id	name	category	provided_by	xrefs	subsets	synonym	iri	description	same_as
MONDO:0002974	cervical cancer	biolink:Disease	mondo	ICD9:180.8|ICD9:180|COHD:198984|OMIM:603956|ICD9:180.9|ICD10:C53.9|SCTID:363354003|NCIT:C9311|DOID:4362|ICD10:C53		malignant neoplasm of cervix uteri|cervix uteri cancer|malignant cervix uteri tumor|malignant neoplasm of the cervix uteri|malignant cervix neoplasm|malignant uterine cervix tumor|malignant neoplasm of the uterine cervix|neoplasm of uterine cervix|cervix cancer|tumor of the cervix uteri|malignant tumor of cervix|malignant tumor of the cervix|malignant cervical tumor|malignant cervical neoplasm|cervical neoplasm|uterine cervical neoplasm|malignant tumor of cervix uteri|malignant tumor of uterine cervix|malignant tumor of the cervix uteri|malignant uterine cervix neoplasm|malignant tumor of the uterine cervix|malignant neoplasm of cervix|malignant neoplasm of the cervix|malignant cervix tumor|malignant neoplasm of uterine cervix|malignant cervix uteri neoplasm|cancer of uterine cervix|uterine cervix cancer	http://purl.obolibrary.org/obo/MONDO_0002974	A primary or metastatic malignant neoplasm involving the cervix.	NCIT:C9311|DOID:4362|SNOMEDCT:363354003|http://identifiers.org/omim/603956
MONDO:0000311	obsolete congenital hypothyroidism	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000311		
MONDO:0000310	Alkhurma hemorrhagic fever	biolink:Disease	mondo	DOID:0050308		Alkhumra hemorrhagic fever virus disease or disorder|Alkhumra hemorrhagic fever virus infectious disease|Alkhumra hemorrhagic fever virus caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0000310	A disease caused by infection with Alkhumra hemorrhagic fever virus.	DOID:0050308
MONDO:0002975	malignant breast melanoma	biolink:Disease	mondo	NCIT:C8410|SCTID:188050009|DOID:4364|UMLS:C0346787		malignant breast melanoma|breast melanoma (disease)|melanoma (disease) of breast|breast melanoma|malignant melanoma of breast|malignant melanoma of the breast	http://purl.obolibrary.org/obo/MONDO_0002975	A melanoma that arises usually from the breast skin and less often from the breast glandular tissue. Primary breast melanomas are rare.	NCIT:C8410|DOID:4364|SNOMEDCT:188050009|UMLS:C0346787
MONDO:0002976	stomach diverticulosis	biolink:Disease	mondo	UMLS:C1148546|DOID:4370|MESH:D045724			http://purl.obolibrary.org/obo/MONDO_0002976	A pathological condition characterized by the presence of a number of gastric diverticula in the stomach.	DOID:4370|MESH:D045724|UMLS:C1148546
HP:0011772	Abnormal thyroid morphology	biolink:PhenotypicFeature	mondo	UMLS:C4023195		Abnormal shape of thyroid gland|Abnormality of thyroid morphology	http://purl.obolibrary.org/obo/HP_0011772	A structural abnormality of the thyroid gland.	
MONDO:0002977	autoimmune disease of the nervous system	biolink:Disease	mondo	NCIT:C99383|UMLS:C0751872|DOID:438|UMLS:C0751871|MESH:D020274		autoimmune disorders of the nervous system|autoimmune disease of nervous system|nervous system immune disorders|neurologic autoimmune diseases|autoimmune nervous system disorder|nervous system autoimmune disease|immune disorders, nervous system|autoimmune diseases, nervous system|autoimmune disorders, nervous system|immune diseases, nervous system|autoimmune disease, neurologic|diseases, neurologic autoimmune|nervous system autoimmune diseases|nervous system immune diseases|disease, neurologic autoimmune|nervous system hypersensitivity reaction type II disease|autoimmune diseases, neurologic|autoimmune nervous system diseases|neurologic autoimmune disease	http://purl.obolibrary.org/obo/MONDO_0002977	A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis.	DOID:438|NCIT:C99383|UMLS:C0751871|UMLS:C0751872|MESH:D020274
MONDO:0000315	commensal bacterial infectious disease	biolink:Disease	mondo	DOID:0050339		opportunistic bacterial infectious disease	http://purl.obolibrary.org/obo/MONDO_0000315	A bacterial infectious disease that results in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder.	DOID:0050339
MONDO:0002970	ciliary body disease	biolink:Disease	mondo	DOID:4353|SCTID:68575007|COHD:442770|NCIT:C35775|UMLS:C0271100		disease of ciliary body|disorder of ciliary body|disease or disorder of ciliary body|ciliary body disorder|ciliary body disease|ciliary body disease or disorder|disorder of ciliary body	http://purl.obolibrary.org/obo/MONDO_0002970	A disease involving the ciliary body.	DOID:4353|SNOMEDCT:68575007|UMLS:C0271100|NCIT:C35775
UBERON:0011591	tract of diencephalon	biolink:AnatomicalEntity	mondo			diencephalon tract	http://purl.obolibrary.org/obo/UBERON_0011591	An axon tract that is part of a diencephalon.	
MONDO:0002971	amelanotic melanoma	biolink:Disease	mondo	DOID:4359|EFO:1001937|NCIT:C3802|MESH:D018328|ICDO:8730/3|UMLS:C0206735		amelanotic melanoma|melanomas, amelanotic|melanoma, amelanotic, malignant|amelanotic melanomas|amelanotic melanoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0002971	A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction.	DOID:4359|UMLS:C0206735|MESH:D018328|NCIT:C3802
MONDO:0000314	primary bacterial infectious disease	biolink:Disease	mondo	DOID:0050338			http://purl.obolibrary.org/obo/MONDO_0000314		DOID:0050338
UBERON:0011590	commissure of diencephalon	biolink:AnatomicalEntity	mondo			diencephalon commissure	http://purl.obolibrary.org/obo/UBERON_0011590	A commissure that is part of a diencephalon.	
MONDO:0000313	hypophosphatemia (disease)	biolink:Disease	mondo	DOID:0050336|NCIT:C37977|SCTID:4996001|MESH:D017674|HP:0002148|UMLS:C0085682		hypophosphatemia	http://purl.obolibrary.org/obo/MONDO_0000313	Lower than normal levels of phosphates in the circulating blood.	NCIT:C37977|SNOMEDCT:4996001|UMLS:C0085682|DOID:0050336|MESH:D017674
MONDO:0002972	posterior mediastinum cancer	biolink:Disease	mondo	SCTID:448670003|DOID:436|UMLS:C0153502|ICD9:164.3|ICD10:C38.2|COHD:40490995		cancer of posterior mediastinum|malignant posterior mediastinum neoplasm|malignant neoplasm of posterior mediastinum|posterior mediastinum cancer	http://purl.obolibrary.org/obo/MONDO_0002972	A malignant neoplasm involving the posterior mediastinum.	DOID:436|SNOMEDCT:448670003|UMLS:C0153502
MONDO:0002973	epithelioid cell melanoma	biolink:Disease	mondo	NCIT:C4236|UMLS:C0334443|ICDO:8771/3|DOID:4360		epithelioid cell melanoma|epithelioid melanoma|epithelioid cell melanoma (morphologic abnormality)|epithelioid cell malignant melanoma	http://purl.obolibrary.org/obo/MONDO_0002973	A melanoma characterized by the presence of malignant large epithelioid melanocytes.	DOID:4360|NCIT:C4236|UMLS:C0334443
MONDO:0000312	obsolete enlarged vestibular aqueduct	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000312		
UBERON:0011595	jaw region	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011595	A subdivision of the head that corresponds to the jaw skeleton, containing both soft tissue, skeleton and teeth (when present). The jaw region is divided into upper and lower regions.	
MONDO:0014959	mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant	biolink:Disease	mondo	UMLS:C4310676|OMIM:617184		mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant; MTDPS12A|mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant|MTDPS12A	http://purl.obolibrary.org/obo/MONDO_0014959		UMLS:C4310676|http://identifiers.org/omim/617184
UBERON:0011594	dentary tooth	biolink:AnatomicalEntity	mondo			tooth of dentary|mandibular teeth|mandibular tooth	http://purl.obolibrary.org/obo/UBERON_0011594	Tooth that is attached to a dentary/mandible[TAO,modified].	
UBERON:0011593	maxillary tooth	biolink:AnatomicalEntity	mondo			maxillary teeth	http://purl.obolibrary.org/obo/UBERON_0011593	A tooth that is attached to a maxilla[TAO,modified].	
MONDO:0014958	Harel-Yoon syndrome	biolink:Disease	mondo	UMLS:C4310677|OMIM:617183		HAYOS|Harel-Yoon syndrome; HAYOS|Harel-Yoon syndrome	http://purl.obolibrary.org/obo/MONDO_0014958		UMLS:C4310677|http://identifiers.org/omim/617183
MONDO:0014957	language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia	biolink:Disease	mondo	OMIM:617182|UMLS:C4310678		language delay and attention Deficit-hyperactivity disorder/cognitive impairment with or without Cardiac arrhythmia|LADCI|language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia; LADCI	http://purl.obolibrary.org/obo/MONDO_0014957		UMLS:C4310678|http://identifiers.org/omim/617182
UBERON:0011592	future upper lip	biolink:AnatomicalEntity	mondo			upper jaw future lip	http://purl.obolibrary.org/obo/UBERON_0011592		
UBERON:0011597	bone of upper jaw	biolink:AnatomicalEntity	mondo			upper jaw bone	http://purl.obolibrary.org/obo/UBERON_0011597	Any bone that is part of the upper jaw skeleton. This includes (when present): the maxilla, the quadrate (in some species).	
UBERON:0011596	future lower lip	biolink:AnatomicalEntity	mondo			lower jaw future lip	http://purl.obolibrary.org/obo/UBERON_0011596		
MONDO:0014963	Shashi-Pena syndrome	biolink:Disease	mondo	UMLS:C4310672|OMIM:617190		SHAPNS|Shashi-Pena syndrome; SHAPNS|Shashi-Pena syndrome	http://purl.obolibrary.org/obo/MONDO_0014963		http://identifiers.org/omim/617190|UMLS:C4310672
MONDO:0012300	prostate cancer, hereditary, 6	biolink:Disease	mondo	OMIM:609558|UMLS:C1836005|MESH:C563699		HPC6|prostate cancer, hereditary, type 6|prostate cancer, hereditary, 6	http://purl.obolibrary.org/obo/MONDO_0012300		UMLS:C1836005|MESH:C563699|http://identifiers.org/omim/609558
MONDO:0012301	mitochondrial DNA depletion syndrome, myopathic form	biolink:Disease	mondo	SCTID:703527003|ICD9:359.89|DOID:0080120|Orphanet:254875|OMIM:609560|UMLS:C3501891|ICD10:G71.3|MESH:C563698	ordo_disease	mitochondrial DNA depletion syndrome 2 (myopathic type); MTDPS2|mitochondrial DNA depletion syndrome 2|mitochondrial DNA depletion syndrome type 2|MTDPS2|mitochondrial DNA depletion myopathy, Tk2-related|mtDNA depletion syndrome, myopathic form|mitochondrial DNA depletion syndrome 2 (myopathic type)	http://purl.obolibrary.org/obo/MONDO_0012301	Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.	DOID:0080120|ORPHA:254875|UMLS:C3501891|MESH:C563698|SNOMEDCT:703527003|http://identifiers.org/omim/609560
MONDO:0014962	intellectual disability, autosomal recessive 57	biolink:Disease	mondo	UMLS:C4310673|OMIM:617188		intellectual disability, autosomal recessive type 57|MBOAT7 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive 57; MRT57|intellectual disability, autosomal recessive 57; MRT57|mental retardation, autosomal recessive 57|intellectual disability, autosomal recessive 57; MRT57|autosomal recessive non-syndromic intellectual disability caused by mutation in MBOAT7|intellectual disability, autosomal recessive 57|MRT57|mental retardation, autosomal recessive type 57	http://purl.obolibrary.org/obo/MONDO_0014962	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MBOAT7 gene.	http://identifiers.org/omim/617188|UMLS:C4310673
MONDO:0014961	spermatogenic failure 16	biolink:Disease	mondo	DOID:0070184|OMIM:617187|UMLS:C4310674		spermatogenic failure 16|spermatogenic failure type 16|azoospermia caused by mutation in SUN5|acephalic spermatozoa syndrome|SUN5 azoospermia|SPGF16|spermatogenic failure 16; SPGF16	http://purl.obolibrary.org/obo/MONDO_0014961	Any azoospermia in which the cause of the disease is a mutation in the SUN5 gene.	http://identifiers.org/omim/617187|DOID:0070184|UMLS:C4310674
MONDO:0014960	encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	biolink:Disease	mondo	UMLS:C4310675|OMIMPS:617186	ordo_disease	encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy; PEBEL|encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy|PEBEL	http://purl.obolibrary.org/obo/MONDO_0014960		UMLS:C4310675
UBERON:0011589	non-mineralized cartilage tissue	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011589	Cartilage tissue that is not mineralized.	
MONDO:0012304	PPR2	biolink:Disease	mondo	OMIM:609572|UMLS:C1835967		PPR2|photoparoxysmal response 2|photoparoxysmal response with or without idiopathic generalized epilepsy|photoparoxysmal response 2; PPR2	http://purl.obolibrary.org/obo/MONDO_0012304		http://identifiers.org/omim/609572|UMLS:C1835967
MONDO:0014967	heterotaxy, visceral, 8, autosomal	biolink:Disease	mondo	OMIM:617205|UMLS:C4310668		heterotaxy, visceral, 8, autosomal|HTX8|heterotaxy, visceral, 8, autosomal; HTX8|visceral heterotaxy caused by mutation in PKD1L1|PKD1L1 visceral heterotaxy|HTX8	http://purl.obolibrary.org/obo/MONDO_0014967	Any visceral heterotaxy in which the cause of the disease is a mutation in the PKD1L1 gene.	UMLS:C4310668|http://identifiers.org/omim/617205
MONDO:0012305	PPR3	biolink:Disease	mondo	OMIM:609573|UMLS:C1835966|MESH:C563695		PPR3|photoparoxysmal response with or without myoclonic epilepsy|photoparoxysmal response 3|photoparoxysmal response 3; PPR3	http://purl.obolibrary.org/obo/MONDO_0012305		http://identifiers.org/omim/609573|MESH:C563695|UMLS:C1835966
MONDO:0014966	periventricular nodular heterotopia 7	biolink:Disease	mondo	OMIM:617201|UMLS:C4310669		NEDD4L periventricular nodular heterotopia|PVNH7|periventricular nodular heterotopia 7|periventricular nodular heterotopia 7; PVNH7|periventricular nodular heterotopia type 7|periventricular nodular heterotopia caused by mutation in NEDD4L	http://purl.obolibrary.org/obo/MONDO_0014966	Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the NEDD4L gene.	UMLS:C4310669|http://identifiers.org/omim/617201
MONDO:0014965	lethal congenital contracture syndrome 11	biolink:Disease	mondo	OMIM:617194|UMLS:C4310670|GARD:0013220		GLDN lethal congenital contracture syndrome|lethal congenital contracture syndrome 11; LCCS11|lethal congenital contracture syndrome 11|lethal congenital contracture arthrogryposis-11|lethal congenital contracture syndrome caused by mutation in GLDN|LCCS11|lethal congenital contracture syndrome type 11	http://purl.obolibrary.org/obo/MONDO_0014965	Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the GLDN gene.	http://identifiers.org/omim/617194|UMLS:C4310670
MONDO:0012302	PFM3	biolink:Disease	mondo	MESH:C563697|OMIM:609566|UMLS:C1835980		parietal foramina 3|PFM3|parietal foramina 3; PFM3	http://purl.obolibrary.org/obo/MONDO_0012302		MESH:C563697|UMLS:C1835980|http://identifiers.org/omim/609566
MONDO:0014964	obsolete encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0014964		
MONDO:0012303	migraine with or without aura, susceptibility to, 8	biolink:Disease	mondo	OMIM:609570	predisposition	migraine with or without aura, susceptibility to, 8|migraine with or without aura, susceptibility to, type 8|Mgr8	http://purl.obolibrary.org/obo/MONDO_0012303		http://identifiers.org/omim/609570
MONDO:0000308	primary systemic mycosis	biolink:Disease	mondo	DOID:0050292			http://purl.obolibrary.org/obo/MONDO_0000308	A systemic mycosis that arises from infection in an immunologically normal host.	DOID:0050292
NCBITaxon:75739	Eucoccidiorida	organism taxon	mondo	GC_ID:1		Eucoccidiida	http://purl.obolibrary.org/obo/NCBITaxon_75739		
MONDO:0000307	parasitic Ichthyosporea infectious disease	biolink:Disease	mondo	DOID:0050291		Ichthyosporea infectious disease|Ichthyosporea caused disease or disorder|Ichthyosporea disease or disorder	http://purl.obolibrary.org/obo/MONDO_0000307	A disease caused by infection with Ichthyosporea.	DOID:0050291
HGNC:6470	L1CAM	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6470		
MONDO:0000306	trichosporonosis	biolink:Disease	mondo	DOID:0050290|SCTID:240761008|UMLS:C0343939|MESH:D060586		Trichosporon infectious disease|Trichosporon disease or disorder|Trichosporon caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0000306	Fungal infections caused by trichosporon that may become systemic especially in an immunocompromised host. Clinical manifestations range from superficial cutaneous infections to systemic lesions in multiple organs.	MESH:D060586|DOID:0050290|UMLS:C0343939|SNOMEDCT:240761008
MONDO:0000305	obsolete fusariosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000305		
MONDO:0002967	dermatophytosis of scalp or beard	biolink:Disease	mondo	UMLS:C0011640|SCTID:266148000|DOID:4337|NCIT:C34536|UMLS:C1274426|COHD:141508|ICD9:110.0		dermatophytosis of scalp and Beard|tinea capitis|dermatophytosis of scalp or beard|dermatophytosis of scalp|Trichophyton rubrum tinea capitis|tinea capitis due to Trichophyton rubrum|dermatophytosis of scalp|scalp dermatophytosis|scalp ringworm	http://purl.obolibrary.org/obo/MONDO_0002967	Dermatophytosis involving the stratum corneum of the skin of the scalp and beard area.	NCIT:C34536|DOID:4337|UMLS:C0011640|UMLS:C1274426|SNOMEDCT:266148000
MONDO:0002968	lymphocele	biolink:Disease	mondo	DOID:4347|ICD9:457.8|MESH:D008210|UMLS:C0024248|SCTID:234110002		lymph cyst	http://purl.obolibrary.org/obo/MONDO_0002968	A cystic lesion containing lymph. It usually results from injury, gynecologic surgery, or urologic surgery.	NCIT:C78442|MESH:D008210|DOID:4347|UMLS:C0024248|SNOMEDCT:234110002
MONDO:0002969	ciliary body cancer	biolink:Disease	mondo	NCIT:C4766|UMLS:C0496833|ICD10:C69.4|DOID:4352|SCTID:188263008		malignant neoplasm of the ciliary body|malignant neoplasm of ciliary body|malignant ciliary body tumor|malignant tumor of the ciliary body|malignant ciliary body neoplasm|cancer of ciliary body|neoplasm of ciliary body|malignant tumor of ciliary body|tumor of the ciliary body|ciliary body cancer	http://purl.obolibrary.org/obo/MONDO_0002969	A malignant neoplasm involving the ciliary body.	NCIT:C4766|UMLS:C0496833|DOID:4352|SNOMEDCT:188263008
MONDO:0000309	aniseikonia	biolink:Disease	mondo	ICD10:H52.32|ICD9:367.32|DOID:0050304|EFO:1001266|MESH:D000839|SCTID:16059006			http://purl.obolibrary.org/obo/MONDO_0000309	A condition in which the ocular image of an object as seen by one eye differs in size and shape from that seen by the other.	DOID:0050304|SNOMEDCT:16059006|MESH:D000839
MONDO:0000322	obsolete Carrion disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000322	A disease caused by infection with Bartonella bacilliformis.	
MONDO:0002985	obsolete pustulosis of palm and sole	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002985		
MONDO:0000321	typhoidal tularemia	biolink:Disease	mondo	DOID:0050383|UMLS:C0473876|SCTID:398554008			http://purl.obolibrary.org/obo/MONDO_0000321	A tularemia that results in bacteremia and has symptom fever, has symptom chills, has symptom myalgia, has symptom malaise, and has symptom weight loss.	DOID:0050383|SNOMEDCT:398554008|UMLS:C0473876
MONDO:0002986	obsolete neuromuscular disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002986		
MONDO:0000320	glandular tularemia	biolink:Disease	mondo	SCTID:21857006|UMLS:C0275974|DOID:0050382		lymph node tularemia	http://purl.obolibrary.org/obo/MONDO_0000320	A tularemia that involves the lymph node.	DOID:0050382|UMLS:C0275974|SNOMEDCT:21857006
MONDO:0002987	spongiotic dermatitis	biolink:Disease	mondo	UMLS:C0262984|SCTID:23615008|ICD9:692.9|NCIT:C27037|EFO:1000768|DOID:4406			http://purl.obolibrary.org/obo/MONDO_0002987	A chronic inflammatory skin condition characterized by itchiness and a rash in the chest and abdominal areas. It affects males more than females and is usually contracted at a relatively young age. It is thought to be caused by an allergic reaction to food, insect bites, or medication.	DOID:4406|NCIT:C27037|UMLS:C0262984|SNOMEDCT:23615008
MONDO:0002988	cervix melanoma	biolink:Disease	mondo	DOID:4413|UMLS:C0877611|GARD:0009664|NCIT:C40239	gard_rare	melanoma of the cervix|primary malignant melanoma of the cervix uteri|primary malignant melanoma of the uterine cervix|cervical melanoma	http://purl.obolibrary.org/obo/MONDO_0002988	An aggressive malignant tumor of melanocytic origin that arises from the cervix.	DOID:4413|UMLS:C0877611|NCIT:C40239
MONDO:0002981	peripheral primitive neuroectodermal tumor of bone	biolink:Disease	mondo	UMLS:C0855009|DOID:4388|NCIT:C8776		peripheral neuroectodermal tumor of bone|peripheral neuroectodermal tumor of the bone|bone peripheral neuroepithelioma|peripheral primitive neuroectodermal tumor of bone tissue|osseous peripheral neuroepithelioma|peripheral primitive neuroectodermal tumor of bone|peripheral neuroepithelioma of bone|peripheral neuroepithelioma of the bone|bone tissue peripheral primitive neuroectodermal tumor	http://purl.obolibrary.org/obo/MONDO_0002981	A small round cell tumor with neural differentiation arising from the bone. It may be associated with pain.	NCIT:C8776|UMLS:C0855009|DOID:4388
MONDO:0000326	obsolete lissencephaly	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000326		
MONDO:0002982	peripheral primitive neuroectodermal tumor of soft tissues	biolink:Disease	mondo	DOID:4389|NCIT:C27471|UMLS:C1112437		peripheral neuroepithelioma of soft tissues|peripheral neuroepithelioma of the soft tissues|peripheral neuroectodermal tumor of the soft tissues|peripheral neuroectodermal tumor of soft tissues|soft tissue peripheral neuroepithelioma|peripheral primitive neuroectodermal tumor of soft tissues	http://purl.obolibrary.org/obo/MONDO_0002982	A small round cell tumor with neural differentiation arising from the soft tissues.	DOID:4389|NCIT:C27471|UMLS:C1112437
MONDO:0000325	obsolete pachyonychia congenita	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000325		
MONDO:0002983	obsolete neuromuscular junction disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002983		
MONDO:0000324	obsolete familial partial lipodystrophy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000324		
MONDO:0002984	reticulohistiocytic granuloma	biolink:Disease	mondo	SCTID:404162004|DOID:4394|UMLS:C0035290|GARD:0012967|ICD9:277.89|NCIT:C3356		reticulohistiocytic granuloma (morphologic abnormality)|Reticulohistiocytoma|solitary Reticulohistiocytoma|solitary reticulohistiocytosis|solitary histiocytoma|solitary reticulohistiocytoma	http://purl.obolibrary.org/obo/MONDO_0002984	A rare cutaneous lesion composed of eosinophilic histiocytes, which are often multinucleated. The lesions are yellow-brown papules affecting any part of the body. Patients are usually adult men. The prognosis is excellent. -- 2003	DOID:4394|SNOMEDCT:404162004|UMLS:C0035290|NCIT:C3356
MONDO:0000323	obsolete familial adenomatous polyposis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000323		
UBERON:0011584	zeugopodial skeleton	biolink:AnatomicalEntity	mondo			zygopodium|mesomere 2|zeugopod skeleton|skeleton of zeugopod|mesomere 2 skeleton|epipodium|epipodial skeleton	http://purl.obolibrary.org/obo/UBERON_0011584	Section of the forelimb skeleton located between the stylopodium and the autopodium.	
MONDO:0014949	developmental and epileptic encephalopathy, 47	biolink:Disease	mondo	OMIM:617166|DOID:0080425|UMLS:C4310685		FGF12 early infantile epileptic encephalopathy|EIEE47|epileptic encephalopathy, early infantile, type 47|DEE47|early infantile epileptic encephalopathy caused by mutation in FGF12|epileptic encephalopathy, early infantile, 47; EIEE47|epileptic encephalopathy, early infantile, 47	http://purl.obolibrary.org/obo/MONDO_0014949	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FGF12 gene.	UMLS:C4310685|DOID:0080425|http://identifiers.org/omim/617166
MONDO:0014948	short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	biolink:Disease	mondo	OMIM:617164|UMLS:C4310686		short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay|short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay; SRMMD|SRMMD	http://purl.obolibrary.org/obo/MONDO_0014948		UMLS:C4310686|http://identifiers.org/omim/617164
UBERON:0011583	stylopodial skeleton	biolink:AnatomicalEntity	mondo			propodial skeleton|mesomere 1|stylopodium skeleton|stylopod|propodium|stylopodium|proximal metapterygial mesomere	http://purl.obolibrary.org/obo/UBERON_0011583	Proximal element of a free limb skeleton consisting of the femur and humerus in the forelimb stylopodium and hindlimb stylopodium respectively[VSAO, modified].	
MONDO:0014947	developmental and epileptic encephalopathy, 46	biolink:Disease	mondo	UMLS:C4310687|OMIM:617162|DOID:0080456		epileptic encephalopathy, early infantile, type 46|EIEE46|epileptic encephalopathy, early infantile, 46|early infantile epileptic encephalopathy caused by mutation in GRIN2D|epileptic encephalopathy, early infantile, 46; EIEE46|GRIN2D early infantile epileptic encephalopathy|DEE46	http://purl.obolibrary.org/obo/MONDO_0014947	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2D gene.	UMLS:C4310687|DOID:0080456|http://identifiers.org/omim/617162
UBERON:0011582	paired limb/fin skeleton	biolink:AnatomicalEntity	mondo			skeleton of limb/fin|skeletal parts of limb/fin|limb/fin skeleton	http://purl.obolibrary.org/obo/UBERON_0011582	The collection of all skeletal elements in an individual limb or fin.	
MONDO:0014946	Sifrim-Hitz-Weiss syndrome	biolink:Disease	mondo	UMLS:C4310688|OMIM:617159		Sifrim-Hitz-Weiss syndrome|Sifrim-Hitz-Weiss multiple congenital anomalies-mental retardation syndrome|SIHIWES|Sifrim-Hitz-Weiss syndrome; SIHIWES|Sifrim-Hitz-Weiss multiple congenital anomalies-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0014946		UMLS:C4310688|http://identifiers.org/omim/617159
MONDO:0002980	obsolete myofibroma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002980		
UBERON:0011588	pre-enamel	biolink:AnatomicalEntity	mondo			pre-enamel tissue|preenamel tissue	http://purl.obolibrary.org/obo/UBERON_0011588	Odontogenic tissue that is avascular non-mineralized matrix that is deposited by preameloblast and ameloblasts that are excluded from the matrix.	
UBERON:0011587	pre-dentine	biolink:AnatomicalEntity	mondo			predentine tissue|predentin|pre-dentine tissue	http://purl.obolibrary.org/obo/UBERON_0011587	Odontogenic tissue that is collagen-rich and characteristic of vertebrate teeth and tooth-like structures (e.g., odontodes) deposited by preodontoblasts and odontoblasts that are typically excluded from the matrix.	
UBERON:0011585	cell condensation	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011585	Anatomical structure that is an aggregation of similar cells from which cartilages and bones form, and from which chondrogenesis and osteogenesis are initiated during repair and/or regeneration. (Hall and Miyake 1995).	
MONDO:0014952	intellectual disability-epilepsy-extrapyramidal syndrome	biolink:Disease	mondo	UMLS:C4310683|Orphanet:468620|OMIM:617171	ordo_disease	dyskinesia, seizures, and intellectual developmental disorder; DYSEIDD|DYSEIDD|dyskinesia, seizures, and intellectual developmental disorder	http://purl.obolibrary.org/obo/MONDO_0014952		UMLS:C4310683|http://identifiers.org/omim/617171|ORPHA:468620
MONDO:0014951	Sotos syndrome 3	biolink:Disease	mondo	UMLS:C4310684|OMIM:617169		Sotos syndrome caused by mutation in APC2|Sotos syndrome 3; SOTOS3|SOTOS3|Sotos syndrome type 3|Sotos syndrome 3|APC2 Sotos syndrome	http://purl.obolibrary.org/obo/MONDO_0014951	Any Sotos syndrome in which the cause of the disease is a mutation in the APC2 gene.	http://identifiers.org/omim/617169|UMLS:C4310684
MONDO:0014950	aortic aneurysm, familial thoracic 10	biolink:Disease	mondo	UMLS:C4284414|OMIM:617168		LOX familial thoracic aortic aneurysm and aortic dissection|AAT10|aortic aneurysm, familial thoracic 10; AAT10|familial thoracic aortic aneurysm and aortic dissection caused by mutation in LOX|aortic aneurysm, familial thoracic type 10|aortic aneurysm, familial thoracic 10	http://purl.obolibrary.org/obo/MONDO_0014950	Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the LOX gene.	UMLS:C4284414|http://identifiers.org/omim/617168
MONDO:0014956	Chitayat syndrome	biolink:Disease	mondo	OMIM:617180|UMLS:C4310679		Chitayat syndrome; CHYTS|Chitayat syndrome|CHYTS	http://purl.obolibrary.org/obo/MONDO_0014956		UMLS:C4310679|http://identifiers.org/omim/617180
MONDO:0014955	retinal dystrophy with or without extraocular anomalies	biolink:Disease	mondo	UMLS:C4310680|OMIM:617175		RDEOA|retinal dystrophy with or without extraocular anomalies; RDEOA|retinal dystrophy with or without extraocular anomalies	http://purl.obolibrary.org/obo/MONDO_0014955		UMLS:C4310680|http://identifiers.org/omim/617175
MONDO:0014954	Ehlers-Danlos syndrome, periodontal type 2	biolink:Disease	mondo	OMIM:617174		Ehlers-Danlos syndrome, periodontal type, 2|Ehlers-Danlos syndrome, periodontal type, 2; EDSPD2|EDSPD2	http://purl.obolibrary.org/obo/MONDO_0014954		http://identifiers.org/omim/617174
MONDO:0014953	gnb5-related intellectual disability-cardiac arrhythmia syndrome	biolink:Disease	mondo	Orphanet:542306|UMLS:C4310682|OMIM:617173	ordo_disease	intellectual developmental disorder with cardiac arrhythmia|intellectual developmental disorder with cardiac arrhythmia; IDDCA|IDDCA	http://purl.obolibrary.org/obo/MONDO_0014953		UMLS:C4310682|ORPHA:542306|http://identifiers.org/omim/617173
MONDO:0000319	obsolete infant botulism	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000319		
HP:0011767	Abnormality of the parathyroid physiology	biolink:PhenotypicFeature	mondo	UMLS:C4023198		Parathyroid dysfunction|Parathyroid issue	http://purl.obolibrary.org/obo/HP_0011767	A functional abnormality of the parathyroid gland.	
HGNC:6481	LAMA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6481		
MONDO:0000318	obsolete wound botulism	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000318		
MONDO:0000317	obsolete foodborne botulism	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000317		
HGNC:6482	LAMA2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6482		
MONDO:0000316	opportunistic bacterial infectious disease	biolink:Disease	mondo	DOID:0050340			http://purl.obolibrary.org/obo/MONDO_0000316		DOID:0050340
HGNC:6483	LAMA3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6483		
MONDO:0002978	orbit alveolar rhabdomyosarcoma	biolink:Disease	mondo	UMLS:C1335126|NCIT:C6247|DOID:4384		alveolar rhabdomyosarcoma of orbit|alveolar rhabdomyosarcoma of the orbit	http://purl.obolibrary.org/obo/MONDO_0002978	A malignant mesenchymal neoplasm that arises in the orbit. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma.	DOID:4384|NCIT:C6247|UMLS:C1335126
HGNC:6484	LAMA4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6484		
MONDO:0002979	papillary squamous carcinoma	biolink:Disease	mondo	NCIT:C4102|UMLS:C0334244|DOID:4385|ICDO:8052/3		papillary epidermoid carcinoma|papillary squamous carcinoma|papillary squamous cell carcinoma|papillary epidermoid cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002979	A well differentiated squamous cell carcinoma characterized by a papillary, exophytic growth pattern and hyperkeratosis. The most commonly affected anatomic sites are the larynx, penis, cervix, vagina, and vulva.	DOID:4385|NCIT:C4102|UMLS:C0334244
HGNC:6485	LAMA5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6485		
HGNC:6486	LAMB1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6486		
HGNC:6487	LAMB2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6487		
MONDO:0002952	follicular basal cell carcinoma	biolink:Disease	mondo	SCTID:402526009|UMLS:C1883723|DOID:4295|NCIT:C27538		follicular (pilar) basal cell carcinoma|skin follicular basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002952		SNOMEDCT:402526009|DOID:4295|NCIT:C27538|UMLS:C1883723
MONDO:0002953	skin infiltrative basal cell carcinoma	biolink:Disease	mondo	UMLS:C0334257|ICDO:8092/3|DOID:4299|NCIT:C27539		infiltrating basal cell carcinoma|infiltrative basal cell carcinoma|skin infiltrating basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002953	A variant of basal cell carcinoma presenting as a pale, indurated plaque, usually in the upper trunk or face. Morphologically, it is characterized by the presence of strands, cords, and columns of basaloid cells infiltrating the dermis. Perineural invasion may be present and the basaloid cell infiltrate may extend into deeper tissues.	DOID:4299|NCIT:C27539|UMLS:C0334257
MONDO:0002954	superficial multifocal basal cell carcinoma	biolink:Disease	mondo	UMLS:C0334256|DOID:4300|ICDO:8091/3|NCIT:C4108|SCTID:403914000		multifocal superficial basal cell carcinoma|superficial multicentric basal-cell carcinoma|superficial basal cell carcinoma|multifocal superficial basal cell carcinoma (morphologic abnormality)|superficial multifocal basal cell carcinoma|multicentric basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002954	A superficial basal cell carcinoma of the skin characterized by the presence of lobules of basaloid cells which are separated by large distances and represent multifocal discrete tumors.	DOID:4300|NCIT:C4108|SNOMEDCT:403914000|UMLS:C0334256
MONDO:0002955	vulva basal cell carcinoma	biolink:Disease	mondo	Orphanet:494451|DOID:4301|NCIT:C6381|UMLS:C1336977|SCTID:717731002		skin basal cell carcinoma of mammalian vulva|basal cell carcinoma of the vulva|basal cell carcinoma of vulva|vulvar basal cell carcinoma|vulvar basal cell cancer|mammalian vulva skin basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002955	A slow growing, locally infiltrating carcinoma that arises from the vulva. It is characterized by the presence of malignant cells that resemble the basal cells that are present in the epidermis.	UMLS:C1336977|SNOMEDCT:717731002|DOID:4301|ORPHA:494451|NCIT:C6381
MONDO:0002950	skin clear cell basal cell carcinoma	biolink:Disease	mondo	NCIT:C27536|UMLS:C1516599|DOID:4293		skin clear cell basal cell carcinoma|clear cell basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002950	A morphologic variant of basal cell carcinoma characterized by the presence of clear cells.	DOID:4293|NCIT:C27536|UMLS:C1516599
MONDO:0002951	skin adenoid basal cell carcinoma	biolink:Disease	mondo	SCTID:402525008|NCIT:C27535|ICDO:8098/3|DOID:4294		adenoid basal cell carcinoma|skin adenoid basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002951	A variant of basal cell carcinoma morphologically characterized by the presence of thin strands of basaloid cells forming a reticulate pattern.	DOID:4294|SNOMEDCT:402525008|NCIT:C27535
HGNC:6490	LAMB3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6490		
MONDO:0014938	aniridia 3	biolink:Disease	mondo	OMIM:617142		AN3|AN3|aniridia 3|aniridia 3; AN3|TRIM44 isolated aniridia|aniridia type 3|isolated aniridia caused by mutation in TRIM44	http://purl.obolibrary.org/obo/MONDO_0014938	Any isolated aniridia in which the cause of the disease is a mutation in the TRIM44 gene.	http://identifiers.org/omim/617142
MONDO:0014937	aniridia 2	biolink:Disease	mondo	MESH:C536372|OMIM:617141|SCTID:253232000		AN2|AN2|aniridia 2|aniridia 2; AN2|aniridia type 2	http://purl.obolibrary.org/obo/MONDO_0014937		SNOMEDCT:253232000|MESH:C536372|http://identifiers.org/omim/617141
MONDO:0014936	ZTTK syndrome	biolink:Disease	mondo	OMIM:617140|Orphanet:500150|UMLS:C4310696	ordo_malformation_syndrome	brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome|Tokita-Kim syndrome|ZTTK syndrome; ZTTKS|TOKIMS|ZTTK multiple congenital anomalies-intellectual disability syndrome|ZTTKS|ZTTK multiple congenital anomalies-mental retardation syndrome|Zhu-Tokita-Takenouchi-Kim syndrome	http://purl.obolibrary.org/obo/MONDO_0014936		UMLS:C4310696|ORPHA:500150|http://identifiers.org/omim/617140
MONDO:0014935	frontometaphyseal dysplasia 2	biolink:Disease	mondo	UMLS:C4310697|OMIM:617137|DOID:0111787		MAP3K7 frontometaphyseal dysplasia|FMD2|frontometaphyseal dysplasia caused by mutation in MAP3K7|frontometaphyseal dysplasia 2; FMD2|FMD2|Frontometaphyseal dysplasia 2|Frontometaphyseal dysplasia type 2	http://purl.obolibrary.org/obo/MONDO_0014935	Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the MAP3K7 gene.	UMLS:C4310697|DOID:0111787|http://identifiers.org/omim/617137
CHEBI:63510	EC 3.6.3.9 (Na(+)/K(+)-transporting ATPase) inhibitor	biolink:ChemicalSubstance	mondo			Na(+)/K(+)-ATPase inhibitors|Na(+)/K(+)-transporting ATPase (EC 3.6.3.9) inhibitor|Na(+)/K(+)-pump inhibitors|sodium pump inhibitors|sodium-potassium adenosine triphosphatase inhibitor|sodium-potassium adenosine triphosphatase inhibitors|sodium pump inhibitor|Na(+)/K(+)-transporting ATPase (EC 3.6.3.9) inhibitors|Na(+)/K(+)-pump inhibitor|EC 3.6.3.9 (Na(+)/K(+)-transporting ATPase) inhibitors|Na(+)/K(+)-ATPase inhibitor|EC 3.6.3.9 inhibitor|Na(+)/K(+)-transporting ATPase inhibitors|sodium-potassium pump inhibitors|Na(+)/K(+)-transporting ATPase inhibitor|sodium-potassium pump inhibitor|EC 3.6.3.9 inhibitors	http://purl.obolibrary.org/obo/CHEBI_63510	An EC 3.6.3.* (acid anhydride hydrolase catalysing transmembrane movement of substances) inhibitor that interferes with the action of  Na(+)/K(+)-transporting ATPase (EC 3.6.3.9).	
MONDO:0014939	congenital myasthenic syndrome 20	biolink:Disease	mondo	DOID:0110661|OMIM:617143|UMLS:C4310694		congenital myasthenic syndrome caused by mutation in SLC5A7|myasthenic syndrome, congenital, 20, presynaptic|myasthenic syndrome, congenital, 20, presynaptic; CMS20|congenital myasthenic syndrome type 20|CMS20|congenital myasthenic syndrome 20 presynaptic|SLC5A7 congenital myasthenic syndrome	http://purl.obolibrary.org/obo/MONDO_0014939	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC5A7 gene.	UMLS:C4310694|http://identifiers.org/omim/617143|DOID:0110661
UBERON:0011574	mesonephric duct lumen	biolink:AnatomicalEntity	mondo			cavity of nephric duct|nephric duct lumen	http://purl.obolibrary.org/obo/UBERON_0011574	A tube lumen that is part of a mesonephric duct.	
HP:0033100	Increased proteinogenic amino acid level in urine	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0033100	An elevated level of a proteinogenic amino acid in the urine. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine.	
MONDO:0014941	arthrogryposis, distal, with impaired proprioception and touch	biolink:Disease	mondo	UMLS:C4310692|OMIM:617146		arthrogryposis, distal, with impaired proprioception and touch|arthrogryposis, distal, with impaired proprioception and touch; DAIPT|DAIPT	http://purl.obolibrary.org/obo/MONDO_0014941		UMLS:C4310692|http://identifiers.org/omim/617146
MONDO:0014940	neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	biolink:Disease	mondo	UMLS:C4310693|OMIM:617145		neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset; NADGP|NADGP|neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	http://purl.obolibrary.org/obo/MONDO_0014940		UMLS:C4310693|http://identifiers.org/omim/617145
CHEBI:38500	EC 1.9.3.1 (cytochrome c oxidase) inhibitor	biolink:ChemicalSubstance	mondo			cytochrome aa3 inhibitors|cytochrome-c oxidase inhibitor|CcO inhibitor|cytochrome-c oxidase inhibitors|cytochrome aa3 inhibitor|ferrocytochrome c oxidase inhibitor|mitochondrial complex IV inhibitors|cytochrome c oxidase (EC 1.9.3.1) inhibitors|EC 1.9.3.1 (cytochrome c oxidase) inhibitors|cytochrome c oxidase inhibitor|EC 1.9.3.1 inhibitors|indophenol oxidase inhibitor|complex IV (mitochondrial electron transport) inhibitors|Warburg's respiratory enzyme inhibitor|indophenolase inhibitors|ferrocytochrome-c:oxygen oxidoreductase inhibitor|mitochondrial cytochrome-c oxidase inhibitors|cytochrome oxidase inhibitor|NADH cytochrome c oxidase inhibitors|cytochrome a3 inhibitors|cytochrome a3 inhibitor|NADH cytochrome c oxidase inhibitor|cytochrome oxidase inhibitors|indophenolase inhibitor|ferrocytochrome-c:oxygen oxidoreductase inhibitors|Warburg's respiratory enzyme inhibitors|complex IV (mitochondrial electron transport) inhibitor|cytochrome c oxidase (EC 1.9.3.1) inhibitor|ferrocytochrome c oxidase inhibitors|mitochondrial complex IV inhibitor|cytochrome c oxidase inhibitors|indophenol oxidase inhibitors|EC 1.9.3.1 inhibitor	http://purl.obolibrary.org/obo/CHEBI_38500	An EC 1.9.3.* (oxidoreductase acting on donor heme group, oxygen as acceptor) inhibitor that interferes with the action of cytochrome c oxidase (EC 1.9.3.1).	
MONDO:0014945	myopathy, distal, with rimmed vacuoles	biolink:Disease	mondo	UMLS:CN239822|OMIM:617158		myopathy, distal, with rimmed vacuoles|DMRV|myopathy, distal, with rimmed vacuoles; DMRV|DMRV	http://purl.obolibrary.org/obo/MONDO_0014945		UMLS:CN239822|http://identifiers.org/omim/617158
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0033107	An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine.	
MONDO:0014944	short stature-brachydactyly-obesity-global developmental delay syndrome	biolink:Disease	mondo	UMLS:C4310689|OMIM:617157|Orphanet:464288	ordo_malformation_syndrome	SBIDDS|short stature, brachydactyly, intellectual developmental disability, and seizures|short stature, brachydactyly, intellectual developmental disability, and seizures; SBIDDS	http://purl.obolibrary.org/obo/MONDO_0014944		UMLS:C4310689|ORPHA:464288|http://identifiers.org/omim/617157
MONDO:0014943	mitochondrial DNA depletion syndrome 15 (hepatocerebral type);	biolink:Disease	mondo	DOID:0080337|UMLS:C4310690|OMIM:617156		mitochondrial DNA depletion syndrome caused by mutation in TFAM|TFAM mitochondrial DNA depletion syndrome|mitochondrial DNA depletion syndrome 15 (hepatocerebral type)|mitochondrial DNA depletion syndrome 15 (hepatocerebral type); MTDPS15|MTDPS15	http://purl.obolibrary.org/obo/MONDO_0014943	Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the TFAM gene.	UMLS:C4310690|DOID:0080337|http://identifiers.org/omim/617156
MONDO:0014942	developmental and epileptic encephalopathy, 45	biolink:Disease	mondo	OMIM:617153|UMLS:C4310691|DOID:0080428		early infantile epileptic encephalopathy caused by mutation in GABRB1|GABRB1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, type 45|epileptic encephalopathy, early infantile, 45; EIEE45|epileptic encephalopathy, early infantile, 45|DEE45|EIEE45	http://purl.obolibrary.org/obo/MONDO_0014942	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB1 gene.	UMLS:C4310691|DOID:0080428|http://identifiers.org/omim/617153
NCBITaxon:157540	Zygodontomys	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_157540		
MONDO:0002949	morpheaform basal cell carcinoma	biolink:Disease	mondo	DOID:4292|UMLS:C0555191|NCIT:C27182|SCTID:403913006		basal cell carcinoma, morphea|morphea-type basal cell carcinoma|morphea-type (sclerosing) basal cell carcinoma|sclerosing type basal cell carcinoma|skin morphea-type (sclerosing) basal cell carcinoma|morpheaform basal cell carcinoma|cicatricial basal-cell carcinoma|basal cell carcinoma sclerosing type	http://purl.obolibrary.org/obo/MONDO_0002949	A histologic variant of basal cell carcinoma of the skin characterized by the presence of strands and nests of malignant cells that are embedded in a dense fibrotic stroma.	SNOMEDCT:403913006|UMLS:C0555191|DOID:4292|NCIT:C27182
HGNC:6493	LAMC2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6493		
HGNC:6494	LAMC3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6494		
MONDO:0002945	micronodular basal cell carcinoma	biolink:Disease	mondo	UMLS:C1367861|NCIT:C27541|DOID:4289|SCTID:402529002		skin micronodular basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002945	A basal cell carcinoma of the skin characterized by the presence of small nodules that permeate the dermis. It presents as an elevated or flat infiltrating tumor, usually in the back.	SNOMEDCT:402529002|DOID:4289|NCIT:C27541|UMLS:C1367861
MONDO:0002946	gynatresia	biolink:Disease	mondo	EFO:1001335|NCIT:C84743|DOID:429|MESH:D006175|UMLS:C0018414			http://purl.obolibrary.org/obo/MONDO_0002946	A congenital or acquired occlusion of an opening in any part of the female genital tract.	NCIT:C84743|DOID:429|MESH:D006175|UMLS:C0018414
MONDO:0002947	adamantinoid basal cell epithelioma	biolink:Disease	mondo	NCIT:C7585|DOID:4290|UMLS:C1304295|SCTID:402524007		basal cell carcinoma - adamantinoid|melanotic adamantinoma of skin|adamantinoid basal cell carcinoma|skin adamantinoid basal cell carcinoma|skin adamantinoid basal cell epithelioma	http://purl.obolibrary.org/obo/MONDO_0002947		UMLS:C1304295|DOID:4290|SNOMEDCT:402524007|NCIT:C7585
MONDO:0002948	skin fibroepithelial basal cell carcinoma	biolink:Disease	mondo	SCTID:254703005|DOID:4291|NCIT:C4109|ICDO:8093/3|UMLS:C0346013		Pinkus tumor|fibroepithelioma of Pinkus|fibroepithelial basal cell carcinoma|fibroepithelioma of Pinkus type	http://purl.obolibrary.org/obo/MONDO_0002948	A variant of basal cell carcinoma presenting as an elevated or erythematous nodular lesion usually in the back. Morphologically, it is characterized by the presence of cords of basaloid cells extending from the epidermis into the dermis, creating a fenestrating pattern. It follows an indolent course.	NCIT:C4109|UMLS:C0346013|SNOMEDCT:254703005|DOID:4291
CHEBI:26536	retinoic acid	biolink:ChemicalSubstance	mondo			3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoic acid	http://purl.obolibrary.org/obo/CHEBI_26536	A retinoid consisting of 3,7-dimethylnona-2,4,6,8-tetraenoic acid substituted at position 9 by a 2,6,6-trimethylcyclohex-1-en-1-yl group (geometry of the four exocyclic double bonds is not specified).	
MONDO:0002963	acantholytic acanthoma	biolink:Disease	mondo	DOID:4324|UMLS:C1301270|NCIT:C27517		acantholytic acanthoma	http://purl.obolibrary.org/obo/MONDO_0002963	A benign epithelial neoplasm of the skin. It presents as a papular or nodular lesion. Morphologically, it is characterized by the presence of hyperkeratosis, acanthosis, papillomatosis, and prominent acantholysis.	DOID:4324|UMLS:C1301270|NCIT:C27517
MONDO:0000300	obsolete tungiasis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000300		
CHEBI:26537	retinoid	biolink:ChemicalSubstance	mondo			retinoid|retinoids|retinoids	http://purl.obolibrary.org/obo/CHEBI_26537	Oxygenated derivatives of 3,7-dimethyl-1-(2,6,6-trimethylcyclohex-1-enyl)nona-1,3,5,7-tetraene and derivatives thereof.	
MONDO:0002964	obsolete non-Langerhans-cell histiocytosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002964		
MONDO:0002965	parovarian cyst	biolink:Disease	mondo	ICD10:Q50.4|ICD10:Q50.5|DOID:4333|UMLS:C0030584|SCTID:64233004|MESH:D010310		hydatid of Morgagni|cyst, Paratubal|cyst, fimbrial|Morgagni hydatid cyst|cysts, parovarian|cysts, Paratubal|Paratubal cyst|Morgagni Hydatids|Morgagni hydatid|parovarian cysts|cyst, parovarian|Paratubal cysts|parovarian cyst|hydatid cyst of Morgagni|fimbrial cyst|Morgagni hydatid cysts|embryonic fimbrial cyst	http://purl.obolibrary.org/obo/MONDO_0002965	A cyst (cysts) near the ovary, derived from anomalies of the fallopian tubes or the broad ligament. The paramesonephric type consists of ciliated cells similar to the oviduct epithelium. The mesonephric type consisted of an epithelium with minimally surface structures. They can be found on the thin oviduct (paratubal cysts) or near its fimbriated end (hydatid of Morgagni).	UMLS:C0030584|DOID:4333|MESH:D010310|SNOMEDCT:64233004
MONDO:0002966	splenic manifestation of prolymphocytic leukemia	biolink:Disease	mondo	NCIT:C7297|DOID:4334|UMLS:C1336066		prolymphocytic leukemia of spleen|splenic manifestation of prolymphocytic leukemia|spleen prolymphocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0002966	A prolymphocytic leukemia that involves the spleen.	DOID:4334|NCIT:C7297|UMLS:C1336066
MONDO:0000304	penicilliosis	biolink:Disease	mondo	SCTID:372936000|DOID:0050288|UMLS:C1274008|SCTID:713315007		Talaromyces marneffei infectious disease|Talaromyces marneffei caused disease or disorder|infection caused by Penicillium marneffei|Penicillium marneffei infectious disease|infection caused by Talaromyces marneffei|Talaromyces marneffei disease or disorder|infection due to Penicillium marneffei	http://purl.obolibrary.org/obo/MONDO_0000304	A disease caused by infection with Talaromyces marneffei.	DOID:0050288|SNOMEDCT:713315007|SNOMEDCT:372936000|UMLS:C1274008
MONDO:0002960	polyradiculopathy	biolink:Disease	mondo	UMLS:C0032586|MESH:D011128|ICD9:356.9|DOID:4307|SCTID:75572007|NCIT:C34934			http://purl.obolibrary.org/obo/MONDO_0002960	A radiculopathy that is present in more than one nerve.	DOID:4307|MESH:D011128|NCIT:C34934|SNOMEDCT:75572007|UMLS:C0032586
MONDO:0000303	conidiobolomycosis	biolink:Disease	mondo	SCTID:240783007|DOID:0050279|ICD9:111.8|UMLS:C0276712		infection by Conidiobolus|rhinoentomophthoromycosis|Conidiobolus infectious disease	http://purl.obolibrary.org/obo/MONDO_0000303		DOID:0050279|UMLS:C0276712|SNOMEDCT:240783007
MONDO:0000302	basidiobolomycosis	biolink:Disease	mondo	MEDGEN:575966|SCTID:4921002|DOID:0050278|UMLS:C0343965		basidiobolomycosis|Basidiobolus disease or disorder|Basidiobolus infectious disease|infection caused by Basidiobolus|Basidiobolus caused disease or disorder|infection by Basidiobolus	http://purl.obolibrary.org/obo/MONDO_0000302	A disease caused by infection with Basidiobolus.	DOID:0050278|UMLS:C0343965|SNOMEDCT:4921002
MONDO:0002961	large cell acanthoma	biolink:Disease	mondo	DOID:4321|NCIT:C27518|UMLS:C1334362			http://purl.obolibrary.org/obo/MONDO_0002961		DOID:4321|NCIT:C27518|UMLS:C1334362
MONDO:0000301	ophthalmomyiasis	biolink:Disease	mondo	DOID:0050268|UMLS:C0027034|SCTID:48216006		ophthalmomyiasis|Oestrus ovis myiasis|Oestrus ovis caused myiasis|ophthalmic myiasis	http://purl.obolibrary.org/obo/MONDO_0000301	An myiasis caused by infection with Oestrus ovis.	DOID:0050268|SNOMEDCT:48216006|UMLS:C0027034
MONDO:0002962	epidermolytic acanthoma	biolink:Disease	mondo	DOID:4323|UMLS:C1333414|NCIT:C27516			http://purl.obolibrary.org/obo/MONDO_0002962	A benign epithelial verrucous lesion of the skin. Morphologically, it is characterized by the presence of epidermolytic hyperkeratosis and papillomatosis.	UMLS:C1333414|DOID:4323|NCIT:C27516
MONDO:0014927	Joubert syndrome 27	biolink:Disease	mondo	OMIM:617120|DOID:0110996|UMLS:C4310706		B9D1 Joubert syndrome|Joubert syndrome caused by mutation in B9D1|Joubert syndrome 27|Joubert syndrome type 27|JBTS27|Joubert syndrome 27; JBTS27	http://purl.obolibrary.org/obo/MONDO_0014927	Any Joubert syndrome in which the cause of the disease is a mutation in the B9D1 gene.	DOID:0110996|UMLS:C4310706|http://identifiers.org/omim/617120
NCBITaxon:157541	Zygodontomys brevicauda	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_157541		
MONDO:0014926	Bardet-Biedl syndrome 20	biolink:Disease	mondo	OMIM:617119|UMLS:C4310707		IFT74 Bardet-Biedl syndrome|BBS20|Bardet-Biedl syndrome caused by mutation in IFT74|Bardet-Biedl syndrome 20|Bardet-Biedl syndrome 20; BBS20|Bardet-Biedl syndrome type 20	http://purl.obolibrary.org/obo/MONDO_0014926	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT74 gene.	UMLS:C4310707|http://identifiers.org/omim/617119
MONDO:0014925	epilepsy, familial focal, with variable foci 3	biolink:Disease	mondo	OMIM:617118|UMLS:C4310708		epilepsy, familial focal, with variable foci type 3|NPRL3 epilepsy, familial focal, with variable foci|epilepsy, familial focal, with variable foci 3; FFEVF3|epilepsy, familial focal, with variable foci 3|epilepsy, familial focal, with variable foci caused by mutation in NPRL3|FFEVF3	http://purl.obolibrary.org/obo/MONDO_0014925	Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL3 gene.	UMLS:C4310708|http://identifiers.org/omim/617118
UBERON:0035597	profundal placode	biolink:AnatomicalEntity	mondo			ophthalmic lobe of trigeminal placode|ophthalmic lobe of trigeminal placode complex|ophthalmic placode|profundus placode	http://purl.obolibrary.org/obo/UBERON_0035597	An embryonic structure positioned halfway between the prospective eye and ear, adjacent to the future midbrain-hindbrain boundary. The profundal and the trigeminal ganglia are separate distally but fused at their proximal end as they condense around NF stage 24.	
MONDO:0014924	epilepsy, familial focal, with variable foci 2	biolink:Disease	mondo	UMLS:C4310709|OMIM:617116		epilepsy, familial focal, with variable foci 2|epilepsy, familial focal, with variable foci 2; FFEVF2|epilepsy, familial focal, with variable foci caused by mutation in NPRL2|FFEVF2|epilepsy, familial focal, with variable foci type 2|NPRL2 epilepsy, familial focal, with variable foci	http://purl.obolibrary.org/obo/MONDO_0014924	Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL2 gene.	UMLS:C4310709|http://identifiers.org/omim/617116
UBERON:0011566	lumen of esophagus	biolink:AnatomicalEntity	mondo			cavity of eosophagus|eosophagus lumen|esophageal lumen|cavity of esophagus|eosophageal cavity|esophagus lumen|eosophageal lumen|esophageal cavity	http://purl.obolibrary.org/obo/UBERON_0011566	An anatomical cavity that is part of a esophagus.	
UBERON:0011565	lumen of gastrointestinal system	biolink:AnatomicalEntity	mondo			cavity of gastrointestinal tract|gastrointestinal tract lumen|cavity of digestive tract|lumen of gastrointestinal tract	http://purl.obolibrary.org/obo/UBERON_0011565		
MONDO:0014929	retinitis pigmentosa 76	biolink:Disease	mondo	UMLS:C4310704|OMIM:617123		retinitis pigmentosa type 76|retinitis pigmentosa 76; RP76|RP76|retinitis pigmentosa caused by mutation in POMGNT1|RP76|POMGNT1 retinitis pigmentosa|retinitis pigmentosa 76	http://purl.obolibrary.org/obo/MONDO_0014929	Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene.	UMLS:C4310704|http://identifiers.org/omim/617123
MONDO:0014928	Joubert syndrome 28	biolink:Disease	mondo	UMLS:C4310705|OMIM:617121|DOID:0110997		Joubert syndrome caused by mutation in MKS1|Joubert syndrome 28|Joubert syndrome 28; JBTS28|Joubert syndrome type 28|JBTS28|MKS1 Joubert syndrome	http://purl.obolibrary.org/obo/MONDO_0014928	Any Joubert syndrome in which the cause of the disease is a mutation in the MKS1 gene.	DOID:0110997|UMLS:C4310705|http://identifiers.org/omim/617121
MONDO:0014930	intellectual disability, autosomal recessive 56	biolink:Disease	mondo	OMIM:617125|UMLS:C4310703		mental retardation, autosomal recessive 56; MRT56|intellectual disability, autosomal recessive 56|mental retardation, autosomal recessive 56|autosomal recessive non-syndromic intellectual disability caused by mutation in ZC3H14|intellectual disability, autosomal recessive type 56|intellectual disability, autosomal recessive 56; MRT56|mental retardation, autosomal recessive type 56|MRT56|ZC3H14 autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive 56; MRT56	http://purl.obolibrary.org/obo/MONDO_0014930	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZC3H14 gene.	UMLS:C4310703|http://identifiers.org/omim/617125
MONDO:0014934	spinocerebellar ataxia, autosomal recessive 24	biolink:Disease	mondo	OMIM:617133|UMLS:C4310699|DOID:0111615		UBA5 autosomal dominant cerebellar ataxia|spinocerebellar ataxia, autosomal recessive 24|spinocerebellar ataxia, autosomal recessive 24; SCAR24|SCAR24|spinocerebellar ataxia, autosomal recessive type 24|autosomal dominant cerebellar ataxia caused by mutation in UBA5	http://purl.obolibrary.org/obo/MONDO_0014934	Any autosomal dominant cerebellar ataxia in which the cause of the disease is a mutation in the UBA5 gene.	UMLS:C4310699|DOID:0111615|http://identifiers.org/omim/617133
MONDO:0014933	developmental and epileptic encephalopathy, 44	biolink:Disease	mondo	UMLS:C4310700|OMIM:617132|DOID:0080424		epileptic encephalopathy, early infantile, 44|EIEE44|epileptic encephalopathy, early infantile, type 44|UBA5 early infantile epileptic encephalopathy|early infantile epileptic encephalopathy caused by mutation in UBA5|DEE44|epileptic encephalopathy, early infantile, 44; EIEE44	http://purl.obolibrary.org/obo/MONDO_0014933	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the UBA5 gene.	UMLS:C4310700|DOID:0080424|http://identifiers.org/omim/617132
MONDO:0014932	orofaciodigital syndrome XV	biolink:Disease	mondo	UMLS:C4310701|OMIM:617127		oral-Facial-digital syndrome, type 15|orofaciodigital syndrome type XV|orofaciodigital syndrome 15|orofaciodigital syndrome XV; OFD15|orofaciodigital syndrome XV|OFD15|Ofds 15	http://purl.obolibrary.org/obo/MONDO_0014932		UMLS:C4310701|http://identifiers.org/omim/617127
MONDO:0014931	Alazami-Yuan syndrome	biolink:Disease	mondo	OMIM:617126|UMLS:C4310702		Alazami-Yuan syndrome|Alazami-Yuan syndrome; ALYUS|ALYUS	http://purl.obolibrary.org/obo/MONDO_0014931		UMLS:C4310702|http://identifiers.org/omim/617126
HP:0011747	Abnormality of the anterior pituitary	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:399244003|UMLS:C0032002|MSH:D010900|UMLS:C4023206		Pituitary disease	http://purl.obolibrary.org/obo/HP_0011747	An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.	
MONDO:0002956	skin cystic basal cell carcinoma	biolink:Disease	mondo	NCIT:C27537|UMLS:C1275193|DOID:4302|SCTID:403912001		cystic basal cell carcinoma|skin cystic basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002956		SNOMEDCT:403912001|DOID:4302|UMLS:C1275193|NCIT:C27537
MONDO:0002957	sarcomatoid basal cell carcinoma	biolink:Disease	mondo	NCIT:C38111|DOID:4303|UMLS:C1519182		skin sarcomatoid basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002957		DOID:4303|UMLS:C1519182|NCIT:C38111
MONDO:0002958	signet ring basal cell carcinoma	biolink:Disease	mondo	UMLS:C1519320|NCIT:C38110|DOID:4304		signet Ring cell basal cell carcinoma|skin signet Ring cell basal cell carcinoma|skin signet ring cell basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002958		DOID:4304|UMLS:C1519320|NCIT:C38110
MONDO:0002959	radiculopathy	biolink:Disease	mondo	UMLS:C0700594|DOID:4306|ICD10:M54.1|MESH:D011843|ICD10:M54.10|SCTID:72274001		nerve root disorder|nerve root disorder, NOS	http://purl.obolibrary.org/obo/MONDO_0002959	Disease involving a spinal nerve root (see spinal nerve roots) which may result from compression related to intervertebral disk displacement; spinal cord injuries; spinal diseases; and other conditions. Clinical manifestations include radicular pain, weakness, and sensory loss referable to structures innervated by the involved nerve root.	SNOMEDCT:72274001|UMLS:C0700594|DOID:4306|MESH:D011843
MONDO:0024322	disorder of glycosylation	biolink:Disease	mondo			glycosylation disease|disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0024322	A disease that has its basis in the disruption of glycosylation.	
MONDO:0000355	Ullrich congenital muscular dystrophy	biolink:Disease	mondo	UMLS:C0410179|Orphanet:75840|MESH:C537521|NCIT:C123438|ICD10:G71.2|OMIMPS:254090|SCTID:240062007|DOID:0050558|GARD:0004769	ordo_disease|gard_rare	scleroatonic muscular dystrophy|Ullrich disease|late onset scleroatonic familial myopathy (subtype)|UCMD|Ullrich scleroatonic muscular dystrophy|scleroatonic Ullrich disease|congenital muscular dystrophy, Ullrich type	http://purl.obolibrary.org/obo/MONDO_0000355	Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence.	SNOMEDCT:240062007|NCIT:C123438|UMLS:C0410179|ORPHA:75840|MESH:C537521|DOID:0050558
MONDO:0024321	disorder of GPI anchor biosynthesis	biolink:Disease	mondo			GPI anchor biosynthetic process disease|GPIBD|glycosylphosphatidylinositol biosynthesis defect|disorder of GPI anchor biosynthetic process	http://purl.obolibrary.org/obo/MONDO_0024321	A disease that has its basis in the disruption of GPI anchor biosynthetic process.	
NCBITaxon:4857	Entomophthorales	organism taxon	mondo	PMID:17572334|PMID:17051209|GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_4857		
MONDO:0000354	obsolete JMP syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000354		
MONDO:0000353	obsolete Saldino-Noonan syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000353		
MONDO:0024323	glomangiomyoma	biolink:Disease	mondo	NCIT:C4223|UMLS:C0334422|DOID:8020|ICDO:8713/0		glomangiomyoma	http://purl.obolibrary.org/obo/MONDO_0024323	A morphologic variant of the glomus tumor with architectural features similar to solid glomus tumor. It is characterized by the presence of elongated glomus cells which resemble mature smooth muscle.	DOID:8020|NCIT:C4223|UMLS:C0334422
MONDO:0000352	obsolete hereditary sensory neuropathy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000352		
MONDO:0024326	pleural adenomatoid tumor	biolink:Disease	mondo	NCIT:C4499		pleural benign mesothelioma|pleura adenomatoid tumor|pleural mesothelioma, benign|pleural adenomatoid tumor|benign mesothelioma of pleura|benign mesothelioma of the pleura	http://purl.obolibrary.org/obo/MONDO_0024326	A rare benign neoplasm that arises from the mesothelial cells of the pleura. It is characterized by a proliferation of epithelioid cells forming glandular and tubular patterns in a fibrous stroma.	NCIT:C4499
MONDO:0000359	spondylocostal dysostosis	biolink:Disease	mondo	GARD:0006798|MESH:C537565|GARD:0012174|GARD:0010726|OMIMPS:277300|NCIT:C125598|DOID:0050568|UMLS:CN201467		spondylocostal dysplasia|spondylothoracic dysplasia|SCD|spondylothoracic dysostosis|Jarcho-Levin syndrome|spondylocostal dysostosis|SCDO|costovertebral dysplasia	http://purl.obolibrary.org/obo/MONDO_0000359	Spondylocostal dysplasia is a rare genetic disorder characterized by defects of the bones of the spine (vertebrae) and abnormalities of the ribs. Ribs can be fused or missing in chaotic patterns. These malformations are present at birth (congenital).	DOID:0050568|NCIT:C125598|UMLS:CN201467|MESH:C537565
MONDO:0000358	orofacial cleft	biolink:Disease	mondo	OMIMPS:119530|SCTID:449790007|DOID:0050567|UMLS:CN221583	clingen		http://purl.obolibrary.org/obo/MONDO_0000358		SNOMEDCT:449790007|UMLS:CN221583|DOID:0050567
MONDO:0024325	cutaneous glomangiomyoma	biolink:Disease	mondo	UMLS:C1275227|SCTID:403971002|ICD9:227.6		zone of skin glomangiomyoma|glomangiomyoma of skin	http://purl.obolibrary.org/obo/MONDO_0024325	A glomangiomyoma that involves the zone of skin.	UMLS:C1275227|SNOMEDCT:403971002
MONDO:0000357	obsolete West syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000357		
MONDO:0024327	chronic renal failure syndrome	biolink:Disease	mondo	MESH:D051436|SCTID:90688005|NCIT:C9438|ICD9:585.9		chronic renal failure|chronic renal failure disease|CRF - chronic renal failure|Chronic renal disease|kidney failure, chronic|chronic kidney failure	http://purl.obolibrary.org/obo/MONDO_0024327	Impairment of the renal function due to chronic kidney damage.	SNOMEDCT:90688005|MESH:D051436|NCIT:C9438
MONDO:0000356	obsolete Walker-Warburg syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000356		
MONDO:0012339	celiac disease, susceptibility to, 4	biolink:Disease	mondo	OMIM:609753	predisposition	susceptibility to celiac disease 4|celiac disease, susceptibility to, 4|MYO9B celiac disease|celiac disease, susceptibility to, 4; CELIAC4|celiac disease, susceptibility to, type 4|gluten-sensitive enteropathy, susceptibility to, 4|CELIAC4|celiac disease caused by mutation in MYO9B	http://purl.obolibrary.org/obo/MONDO_0012339	Any celiac disease in which the cause of the disease is a mutation in the MYO9B gene.	http://identifiers.org/omim/609753
MONDO:0000351	disorder of methionine catabolism	biolink:Disease	mondo	HP:0003235|SCTID:43123004|DOID:0050544|UMLS:C4048705		inborn error of methionine catabolic process|rare inborn error of methionine catabolic process|hypermethioninemia|inborn methionine catabolic process disorder	http://purl.obolibrary.org/obo/MONDO_0000351	An acquired metabolic disease that is has its basis in the disruption of methionine catabolic process.	UMLS:C4048705|SNOMEDCT:43123004|DOID:0050544
MONDO:0000350	obsolete Charcot-Marie-Tooth disease intermediate type	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000350		
MONDO:0024320	inner ear neoplasm	biolink:Disease	mondo	UMLS:C1512779|NCIT:C39784		inner Ear neoplasm|neoplasm of internal ear|internal ear neoplasm|internal ear tumor|internal Ear neoplasm|tumor of internal ear|internal ear neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0024320	A rare neoplasm that arises from the inner ear. Representative examples include lipoma and acoustic schwannoma.	NCIT:C39784|UMLS:C1512779
NCBITaxon:4858	Basidiobolaceae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_4858		
NCBITaxon:4859	Basidiobolus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_4859		
UBERON:0035523	anterior surface of prostate	biolink:AnatomicalEntity	mondo			facies anterior (prostatae)|anterior surface of prostate gland|facies anterior prostatae	http://purl.obolibrary.org/obo/UBERON_0035523	The aspect of the prostate facing the pubic symphysis.	
MONDO:0012344	Alzheimer disease 11	biolink:Disease	mondo	DOID:0110044|MESH:C565228|ICD10:G30|UMLS:C1853360|OMIM:609790		Alzheimer's disease 11|AD11|Ad11|Alzheimer's disease type 11|Alzheimer disease 11|Alzheimer disease, familial, 11|Alzheimer disease type 11	http://purl.obolibrary.org/obo/MONDO_0012344	An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1.	UMLS:C1853360|http://identifiers.org/omim/609790|MESH:C565228|DOID:0110044
MONDO:0012345	acral peeling skin syndrome	biolink:Disease	mondo	OMIM:609796|Orphanet:263534|UMLS:C1853354|MESH:C536316|ICD10:Q80.8|GARD:0012863|SCTID:709416009	gard_rare|ordo_disease	peeling skin syndrome type 2|acral peeling skin syndrome|peeling skin syndrome 2|localized deciduous skin|acral deciduous skin|peeling skin syndrome 2; PSS2|localized PSS|acral PSS|PSS2|peeling skin syndrome, acral type	http://purl.obolibrary.org/obo/MONDO_0012345	Acral peeling skin syndrome (PSS) is a form of PSS characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet.	UMLS:C1853354|SNOMEDCT:709416009|ORPHA:263534|http://identifiers.org/omim/609796|MESH:C536316
MONDO:0012342	7q11.23 microduplication syndrome	biolink:Disease	mondo	Orphanet:96121|ICD10:Q92.3|GARD:0012076|MESH:C565723|UMLS:C1857844|SCTID:726707004|UMLS:C4512054|OMIM:609757	ordo_malformation_syndrome	7q11.23 duplication syndrome|trisomy 7q11.23|Somerville-Van Der Aa syndrome|Wbs Duplication syndrome|chromosome 7Q11.23 triplication syndrome|chromosome 7Q11.23 Duplication syndrome|Wbs triplication syndrome|dup(7)(q11.23)|Williams-Beuren region DUPLICATION syndrome	http://purl.obolibrary.org/obo/MONDO_0012342	7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short piltrum, thin upper lip and facial asymmetry). hypotonia, developmental coordination disordes, behavioural problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported.	SNOMEDCT:726707004|http://identifiers.org/omim/609757|UMLS:C1857844|ORPHA:96121|MESH:C565723|UMLS:C4512054
MONDO:0012343	AAA2	biolink:Disease	mondo	MESH:C565229|OMIM:609782|UMLS:C1853364		aortic aneurysm, familial abdominal, 2|AAA2|aortic aneurysm, familial abdominal, 2; AAA2	http://purl.obolibrary.org/obo/MONDO_0012343		UMLS:C1853364|http://identifiers.org/omim/609782|MESH:C565229
MONDO:0012348	maturity-onset diabetes of the young type 8	biolink:Disease	mondo	SCTID:609575003|OMIM:609812|DOID:0111105|MESH:C565225|GARD:0010662	gard_rare	MODY type 8|maturity-onset diabetes of the young (disease) caused by mutation in CEL|diabetes and pancreatic exocrine dysfunction|type 8 maturity-onset diabetes of the young|diabetes and pancreatic exocrine|maturity-onset diabetes of the young, type 8, with exocrine dysfunction|DPED|maturity-onset diabetes of the young type 8 with exocrine dysfunction|maturity-onset diabetes of the young, type 8|MODY8|diabetes-pancreatic exocrine dysfunction syndrome|diabetes mellitus MODY type 8|maturity-onset diabetes of the young, type 8, with exocrine dysfunction; MODY8|CEL maturity-onset diabetes of the young (disease)	http://purl.obolibrary.org/obo/MONDO_0012348	Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the CEL gene.	SNOMEDCT:609575003|http://identifiers.org/omim/609812|MESH:C565225|DOID:0111105
MONDO:0012349	spondylocostal dysostosis 3, autosomal recessive	biolink:Disease	mondo	OMIM:609813|GARD:0004973|UMLS:C1853296		spondylocostal dysostosis 3, autosomal recessive|SCDO3|spondylocostal dysostosis 3, autosomal recessive; SCDO3|LFNG autosomal recessive spondylocostal dysostosis|autosomal recessive spondylocostal dysostosis caused by mutation in LFNG|SCOD3|spondylocostal dysostosis 3	http://purl.obolibrary.org/obo/MONDO_0012349	Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the LFNG gene.	UMLS:C1853296|http://identifiers.org/omim/609813
MONDO:0012346	GEFSP4	biolink:Disease	mondo	UMLS:C1853345|OMIM:609800|MESH:C565227|DOID:0111293		generalized epilepsy with febrile seizures plus, type 4|GEFSP4|generalized epilepsy with febrile seizures plus, type 4; GEFSP4|Gefs+, type 4	http://purl.obolibrary.org/obo/MONDO_0012346		UMLS:C1853345|http://identifiers.org/omim/609800|DOID:0111293|MESH:C565227
MONDO:0012347	hamartoma, Precalcaneal congenital fibrolipomatous	biolink:Disease	mondo	OMIM:609808|MESH:C565226|UMLS:C1853298		Pcfh|hamartoma, Precalcaneal congenital fibrolipomatous	http://purl.obolibrary.org/obo/MONDO_0012347		UMLS:C1853298|http://identifiers.org/omim/609808|MESH:C565226
MONDO:0024318	viral infection of central nervous system	biolink:Disease	mondo	SCTID:302810003|MESH:D020805|UMLS:C0348165|ICD10:A80.A89		central nervous system viral infection|viral infection of central nervous system|viral disease of central nervous system	http://purl.obolibrary.org/obo/MONDO_0024318		UMLS:C0348165|MESH:D020805|SNOMEDCT:302810003
MONDO:0000349	obsolete Charcot-Marie-Tooth disease type 1	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000349		
MONDO:0012340	CELIAC2	biolink:Disease	mondo	OMIM:609754	predisposition	celiac disease, susceptibility to, 2|CELIAC2|gluten-sensitive enteropathy, susceptibility to, 2|celiac disease, susceptibility to, 2; CELIAC2	http://purl.obolibrary.org/obo/MONDO_0012340		http://identifiers.org/omim/609754
MONDO:0012341	celiac disease, susceptibility to, 3	biolink:Disease	mondo	OMIM:609755	predisposition	CTLA4 celiac disease|celiac disease, susceptibility to, 3; CELIAC3|celiac disease, susceptibility to, type 3|CELIAC3|celiac disease caused by mutation in CTLA4|gluten-sensitive enteropathy, susceptibility to, 3|susceptibility to celiac disease 3|celiac disease, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0012341	Any celiac disease in which the cause of the disease is a mutation in the CTLA4 gene.	http://identifiers.org/omim/609755
MONDO:0000366	obsolete glycogen storage disease IX	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000366		
MONDO:0024311	cancer affecting bone of limb skeleton	biolink:Disease	mondo	ICD10:C40		malignant neoplasm of limb bone|cancer of limb bone|limb bone cancer|malignant limb bone neoplasm	http://purl.obolibrary.org/obo/MONDO_0024311	A cancer that involves the limb bone.	
MONDO:0000365	primary congenital glaucoma (disease)	biolink:Disease	mondo	UMLS:C1533041|SCTID:415176004|DOID:0050593|HP:0008007|NCIT:C150251|UMLS:C3888011		primary congenital glaucoma	http://purl.obolibrary.org/obo/MONDO_0000365	Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs.	SNOMEDCT:415176004|UMLS:C1533041|UMLS:C3888011|NCIT:C150251|DOID:0050593
MONDO:0024310	angiodysplasia of stomach	biolink:Disease	mondo	UMLS:C0744273|SCTID:424802006		gastric vascular dysplasia|stomach angiodysplasia|gastric angiodysplasia	http://purl.obolibrary.org/obo/MONDO_0024310	A angiodysplasia that involves the stomach.	UMLS:C0744273|SNOMEDCT:424802006
MONDO:0024313	staphylococcal infection	biolink:Disease	mondo	NCIT:C35038|MESH:D013203|SCTID:56038003		staphylococcal infection	http://purl.obolibrary.org/obo/MONDO_0024313	An infection caused by Staphylococcus.	SNOMEDCT:56038003|NCIT:C35038|MESH:D013203
MONDO:0000364	obsolete severe congenital neutropenia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000364		
MONDO:0000363	gummatous syphilis	biolink:Disease	mondo	DOID:0050584			http://purl.obolibrary.org/obo/MONDO_0000363	A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ.	DOID:0050584
MONDO:0024312	cancer of short bone of upper limb	biolink:Disease	mondo	ICD10:C40.1			http://purl.obolibrary.org/obo/MONDO_0024312		
MONDO:0024315	parasitic endophthalmitis	biolink:Disease	mondo	ICD9:360.13|UMLS:C0014238|SCTID:57100005|NCIT:C34587		parasitic endophthalmitis	http://purl.obolibrary.org/obo/MONDO_0024315	Infection of the epicondyles by a parasite.	NCIT:C34587|SNOMEDCT:57100005|UMLS:C0014238
MONDO:0024314	parasitemia	biolink:Disease	mondo	UMLS:C0242723|MESH:D018512		Parasitemias	http://purl.obolibrary.org/obo/MONDO_0024314	The presence of parasites (especially malarial parasites) in the blood. (Dorland, 27th ed)	MESH:D018512|UMLS:C0242723
MONDO:0000369	abdominal tuberculosis	biolink:Disease	mondo	SCTID:447330002|UMLS:C0740652|ICD9:014.80|DOID:0050599		tuberculosis of abdomen	http://purl.obolibrary.org/obo/MONDO_0000369	An extrapulmonary tuberculosis that is located in gastrointestinal tract, located in peritoneum, located in omentum, located in mesentery, located in liver, located in spleen or located in pancreas.	SNOMEDCT:447330002|UMLS:C0740652|DOID:0050599
MONDO:0000368	extrapulmonary tuberculosis	biolink:Disease	mondo	UMLS:C0679362|SCTID:423997002|DOID:0050598			http://purl.obolibrary.org/obo/MONDO_0000368	A tuberculosis that occurs at body sites other than the lung.	UMLS:C0679362|DOID:0050598|SNOMEDCT:423997002
MONDO:0024317	chronic pain syndrome	biolink:Disease	mondo	SCTID:373621006|ICD10:G89.4|UMLS:C1298685|ICD9:338.4		chronic pain disease|disorder involving pain, chronic|chronic disorder involving pain	http://purl.obolibrary.org/obo/MONDO_0024317	Chronic form of disorder involving pain.	SNOMEDCT:373621006|UMLS:C1298685
MONDO:0024316	physiological malfunction arising from mental factor	biolink:Disease	mondo	NCIT:C35186|UMLS:C0154548		physiological malfunction arising from mental Factor	http://purl.obolibrary.org/obo/MONDO_0024316	A dysfunction in biological function that is due to a psychological process.	UMLS:C0154548|NCIT:C35186
MONDO:0000367	taeniasis	biolink:Disease	mondo	MESH:D013622|ICD10:B68.1|UMLS:C0152073|EFO:1001433|SCTID:69163003|ICD9:123.2|NCIT:C85180|DOID:0050596|ICD10:B68		Taenia infection|taenia saginata infection|infections, Taenia|infection by Taeniarhynchus saginatus|infection by taenia saginata|unarmed tapeworm infection|beef tapeworm infection|Taenia saginata infectious disease	http://purl.obolibrary.org/obo/MONDO_0000367	A parasitic infection caused by tapeworms of the genus Taenia. Humans are infected by eating undercooked or raw meat of infected animals. It is usually an asymptomatic infection and patients may become aware of the infection by noticing segments of the tapeworm in their feces. If symptoms are present, they include nausea, abdominal pain, indigestion, constipation, or diarrhea.	NCIT:C85180|UMLS:C0152073|MESH:D013622|DOID:0050596|SNOMEDCT:69163003
MONDO:0012328	trichilemmal cyst	biolink:Disease	mondo	SCTID:254677004|OMIM:609649|UMLS:C1864801|UMLS:C2266788|COHD:4115282		trichilemmal cyst 1|Tricholemmal cyst|Pilar cyst|trichilemmal cyst 1; TRICY1|TRICY1	http://purl.obolibrary.org/obo/MONDO_0012328		SNOMEDCT:254677004|UMLS:C2266788|UMLS:C1864801|http://identifiers.org/omim/609649
MONDO:0012329	short stature and Facioauriculothoracic malformations	biolink:Disease	mondo	MESH:C566457|UMLS:C1864791|OMIM:609654		short stature and Facioauriculothoracic malformations	http://purl.obolibrary.org/obo/MONDO_0012329		MESH:C566457|UMLS:C1864791|http://identifiers.org/omim/609654
MONDO:0000362	obsolete Sensenbrenner syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000362		
MONDO:0000361	obsolete d-2-hydroxyglutaric aciduria	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000361		
MONDO:0000360	obsolete 2-hydroxyglutaric aciduria	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000360		
MONDO:0012333	autosomal recessive nonsyndromic deafness 53	biolink:Disease	mondo	MESH:C566453|UMLS:C1864746|ICD10:H90.3|OMIM:609706|DOID:0110509		autosomal recessive nonsyndromic deafness type 53|COL11A2 autosomal recessive nonsyndromic deafness|autosomal recessive deafness 53|autosomal recessive nonsyndromic deafness caused by mutation in COL11A2|deafness, autosomal recessive type 53|deafness, autosomal recessive 53|DFNB53|deafness, autosomal recessive 53; DFNB53	http://purl.obolibrary.org/obo/MONDO_0012333	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene.	DOID:0110509|UMLS:C1864746|http://identifiers.org/omim/609706|MESH:C566453
MONDO:0014996	intellectual disability, autosomal recessive 58	biolink:Disease	mondo	GARD:0013361|UMLS:C4310641|OMIM:617270		intellectual disability, autosomal recessive 58; MRT58|mental retardation, autosomal recessive 58; MRT58|intellectual disability, autosomal recessive type 58|ELP2-related disorder|mental retardation, autosomal recessive 58|autosomal recessive non-syndromic intellectual disability caused by mutation in ELP2|autosomal recessive intellectual disability 58|intellectual disability, autosomal recessive 58; MRT58|mental retardation, autosomal recessive type 58|MRT58|ELP2 autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive 58	http://purl.obolibrary.org/obo/MONDO_0014996	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ELP2 gene.	http://identifiers.org/omim/617270|UMLS:C4310641
MONDO:0014995	neurodevelopmental disorder with hypotonia, seizures, and absent language	biolink:Disease	mondo	OMIM:617268|UMLS:C4310643		neurodevelopmental disorder with hypotonia, seizures, and absent language; NDHSAL|neurodevelopmental disorder with hypotonia, seizures, and absent language|NDHSAL	http://purl.obolibrary.org/obo/MONDO_0014995		http://identifiers.org/omim/617268|UMLS:C4310643
MONDO:0012334	hereditary spastic paraplegia 29	biolink:Disease	mondo	GARD:0009729|OMIM:609727|Orphanet:101009|UMLS:C1857855|SCTID:733029008|DOID:0110780|ICD10:G11.4|MESH:C536863	ordo_disease	spastic paraplegia 29, autosomal dominant; SPG29|autosomal dominant spastic paraplegia 29|spastic paraplegia 29, autosomal dominant|SPG29|spastic paraplegia 29|hereditary spastic paraplegia type 29|autosomal dominant spastic paraplegia type 29	http://purl.obolibrary.org/obo/MONDO_0012334	Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.	MESH:C536863|SNOMEDCT:733029008|DOID:0110780|ORPHA:101009|http://identifiers.org/omim/609727|UMLS:C1857855
MONDO:0014994	global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	biolink:Disease	mondo	UMLS:C4310644|OMIM:617260		global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies; GDACCF|global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies|GDACCF	http://purl.obolibrary.org/obo/MONDO_0014994		http://identifiers.org/omim/617260|UMLS:C4310644
MONDO:0012331	migraine with aura, susceptibility to, 9	biolink:Disease	mondo	OMIM:609670	predisposition	Mgr9|migraine with aura, susceptibility to, 9|migraine with aura, susceptibility to, type 9	http://purl.obolibrary.org/obo/MONDO_0012331		http://identifiers.org/omim/609670
MONDO:0014993	myofibrillar myopathy 8	biolink:Disease	mondo	OMIM:617258|DOID:0080308|UMLS:C4310645		myopathy, myofibrillar, 8|MFM8|myofibrillar myopathy (disease) caused by mutation in PYROXD1|myopathy, myofibrillar, type 8|PYROXD1 myofibrillar myopathy (disease)|myopathy, myofibrillar, 8; MFM8	http://purl.obolibrary.org/obo/MONDO_0014993	Any myofibrillar myopathy in which the cause of the disease is a mutation in the PYROXD1 gene.	UMLS:C4310645|DOID:0080308|http://identifiers.org/omim/617258
MONDO:0012332	short stature-delayed bone age due to thyroid hormone metabolism deficiency	biolink:Disease	mondo	ICD10:E03.1|OMIM:609698|UMLS:C1864761|Orphanet:171706|MESH:C566454	ordo_disease	thyroid hormone metabolism, abnormal	http://purl.obolibrary.org/obo/MONDO_0012332	Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported.	UMLS:C1864761|ORPHA:171706|http://identifiers.org/omim/609698|MESH:C566454
MONDO:0012337	GLC1I	biolink:Disease	mondo	OMIM:609745|UMLS:C1857852|MESH:C565724		GLC1I|glaucoma 1, open angle, I; GLC1I|glaucoma 1, open angle, I	http://purl.obolibrary.org/obo/MONDO_0012337		MESH:C565724|http://identifiers.org/omim/609745|UMLS:C1857852
MONDO:0012338	EIG4	biolink:Disease	mondo	DOID:0111319|OMIM:609750	predisposition	epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10|epilepsy, idiopathic generalized, susceptibility to, 4|epilepsy, idiopathic generalized, susceptibility to, 4; EIG4|EIG4	http://purl.obolibrary.org/obo/MONDO_0012338		DOID:0111319|http://identifiers.org/omim/609750
MONDO:0014999	tooth agenesis, selective, 9	biolink:Disease	mondo	OMIM:617275		GREM2 tooth agenesis|STHAG9|tooth agenesis, selective, 9; STHAG9|tooth agenesis, selective, type 9|tooth agenesis caused by mutation in GREM2|tooth agenesis, selective, 9	http://purl.obolibrary.org/obo/MONDO_0014999	Any tooth agenesis in which the cause of the disease is a mutation in the GREM2 gene.	http://identifiers.org/omim/617275
UBERON:0035529	left common iliac artery	biolink:AnatomicalEntity	mondo			trunk of left common iliac arterial tree	http://purl.obolibrary.org/obo/UBERON_0035529		
MONDO:0012335	obesity due to pro-opiomelanocortin deficiency	biolink:Disease	mondo	OMIM:609734|ICD10:E66.8|ICD9:255.5|MESH:C565726|Orphanet:71526|UMLS:C1857854|GARD:0010823|SCTID:702949005	ordo_malformation_syndrome	obesity, early-onset, with adrenal insufficiency and Red hair|POMC deficiency|obesity, early-onset, adrenal insufficiency, and Red hair|OBAIRH|obesity, early-onset, with adrenal insufficiency and RED hair; OBAIRH|PROOPIOMELANOCORTIN deficiency	http://purl.obolibrary.org/obo/MONDO_0012335	Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.	MESH:C565726|ORPHA:71526|SNOMEDCT:702949005|http://identifiers.org/omim/609734|UMLS:C1857854
MONDO:0014998	glaucoma 3, primary congenital, E	biolink:Disease	mondo	UMLS:C4310639|OMIM:617272		GLC3E|glaucoma 3, primary congenital, E; GLC3E|glaucoma 3, primary congenital, E|glaucoma 3, primary congenital, type E	http://purl.obolibrary.org/obo/MONDO_0014998		http://identifiers.org/omim/617272|UMLS:C4310639
MONDO:0012336	cataract 22 multiple types	biolink:Disease	mondo	UMLS:C1857853|DOID:0110268|OMIM:609741|MESH:C565725|ICD10:Q12.0		early-onset non-syndromic cataract caused by mutation in CRYBB3|cataract 22, multiple types|CTRCT22|cataract 22, multiple types; CTRCT22|autosomal recessive congenital nuclear cataract 2|CRYBB3 early-onset non-syndromic cataract|cataract, congenital nuclear, autosomal recessive 2|CATCN2	http://purl.obolibrary.org/obo/MONDO_0012336	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB3 gene.	DOID:0110268|MESH:C565725|http://identifiers.org/omim/609741|UMLS:C1857853
MONDO:0014997	nephronophthisis 20	biolink:Disease	mondo	DOID:0111127|UMLS:C4310640|OMIM:617271		nephronophthisis 20|nephronophthisis type 20|NPHP20|nephronophthisis 20; NPHP20|MAPKBP1 nephronophthisis (disease)|nephronophthisis (disease) caused by mutation in MAPKBP1	http://purl.obolibrary.org/obo/MONDO_0014997	Any nephronophthisis in which the cause of the disease is a mutation in the MAPKBP1 gene.	http://identifiers.org/omim/617271|UMLS:C4310640|DOID:0111127
HP:0008169	Reduced factor VII activity	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:37193007|UMLS:C4024722|UMLS:C0015503|MSH:D005168		Factor VII deficiency	http://purl.obolibrary.org/obo/HP_0008169	Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X.	
MONDO:0024308	pseudoxanthoma elasticum (inherited or acquired)	biolink:Disease	mondo	ICD9:757.39|SCTID:252246005		PXE|pseudoxanthoma elasticum	http://purl.obolibrary.org/obo/MONDO_0024308	An inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract.	SNOMEDCT:252246005
MONDO:0024307	prothrombin deficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0024307		
MONDO:0024309	neuropathy, hereditary sensory and autonomic, type 2A	biolink:Disease	mondo	DOID:0070155|OMIM:201300		HSAN2A|HSAN 2A|hereditary sensory and autonomic neuropathy type 2A|acroosteolysis, Giaccai type|acroosteolysis, neurogenic|Morvan disease|neuropathy, progressive sensory, of children|neuropathy, hereditary sensory and autonomic, type IIA; HSAN2A|hereditary sensory and autonomic neuropathy type IIA|HSN 2A|neuropathy, hereditary sensory, type 2A|neuropathy, hereditary sensory radicular, autosomal recessive|neuropathy, congenital sensory	http://purl.obolibrary.org/obo/MONDO_0024309	A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has material basis in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13	http://identifiers.org/omim/201300|DOID:0070155
MONDO:0014992	lissencephaly 8	biolink:Disease	mondo	OMIM:617255|UMLS:C4310646		lissencephaly type 8|lissencephaly 8|LIS8|lissencephaly (disease) caused by mutation in TMTC3|LIS8|lissencephaly 8; LIS8|TMTC3 lissencephaly (disease)	http://purl.obolibrary.org/obo/MONDO_0014992	Any lissencephaly (disease) in which the cause of the disease is a mutation in the TMTC3 gene.	UMLS:C4310646|http://identifiers.org/omim/617255
MONDO:0012330	talo-patello-scaphoid osteolysis	biolink:Disease	mondo	OMIM:609655|MESH:C536894|UMLS:C1864784|GARD:0010061|Orphanet:50809	ordo_malformation_syndrome	talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals|singh-Williams-McAlister syndrome	http://purl.obolibrary.org/obo/MONDO_0012330	Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E), in the absence of renal disease. Autosomal recessive inheritance has been suggested.	UMLS:C1864784|http://identifiers.org/omim/609655|ORPHA:50809|MESH:C536894
MONDO:0014991	Seckel syndrome 10	biolink:Disease	mondo	UMLS:C4310647|DOID:0070008|OMIM:617253		SCKL10|Seckel syndrome 10; SCKL10|Seckel syndrome 10|NSMCE2 Seckel syndrome|Seckel syndrome caused by mutation in NSMCE2|Seckel syndrome type 10	http://purl.obolibrary.org/obo/MONDO_0014991	Any Seckel syndrome in which the cause of the disease is a mutation in the NSMCE2 gene.	DOID:0070008|UMLS:C4310647|http://identifiers.org/omim/617253
MONDO:0014990	uncombable hair syndrome 3	biolink:Disease	mondo	UMLS:C4310648|OMIM:617252		UHS3|uncombable hair syndrome 3; UHS3|uncombable hair syndrome type 3|uncombable hair syndrome caused by mutation in TCHH|UHS3|TCHH uncombable hair syndrome|uncombable hair syndrome 3	http://purl.obolibrary.org/obo/MONDO_0014990	Any uncombable hair syndrome in which the cause of the disease is a mutation in the TCHH gene.	UMLS:C4310648|http://identifiers.org/omim/617252
MONDO:0000333	early congenital syphilis	biolink:Disease	mondo	ICD9:090.2|DOID:0050488|UMLS:C0275859|COHD:436632|SCTID:4359001		Early congenital syphilis (less than 2 years)	http://purl.obolibrary.org/obo/MONDO_0000333	A congenital syphilis that is manifested between 0 and 2 years old.	DOID:0050488|UMLS:C0275859|SNOMEDCT:4359001
MONDO:0002996	cavernous sinus meningioma	biolink:Disease	mondo	NCIT:C5268|DOID:4435|UMLS:C1332865		meningioma (disease) of cavernous sinus|meningioma of cavernous sinus|meningioma of the cavernous sinus|cavernous sinus meningioma (disease)	http://purl.obolibrary.org/obo/MONDO_0002996	A meningioma that affects the cavernous sinus.	DOID:4435|NCIT:C5268|UMLS:C1332865
MONDO:0024300	hypophosphatemic rickets	biolink:Disease	mondo	NCIT:C131449|MESH:D063730		hypophosphatemia, vitamin D-resistant rickets|acquired vitamin D resistant rickets|Phosphopenic rickets|Ricket, hypophosphatemic|hypophosphatemic rickets|hypophosphatemic Ricket|hypophosphatemic vitamin D-resistant rickets|rickets, vitamin D-resistant|acquired vitamin D-resistant rickets|vitamin D-resistant rickets|hypophosphatemic vitamin D resistant rickets|rickets, vitamin D resistant	http://purl.obolibrary.org/obo/MONDO_0024300	Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D.	NCIT:C131449|MESH:D063730
MONDO:0000332	sennetsu fever	biolink:Disease	mondo	DOID:0050485|GARD:0000120|UMLS:C0520779|SCTID:21013006|MESH:C537582|ICD9:088.89	gard_rare	Neorickettsia sennetsu disease or disorder|Neorickettsia sennetsu infectious disease|Neorickettsia sennetsu caused disease or disorder|sennetsu fever|Human Ehrlichial infection, sennetsu type|sennetsu ehrlichiosis	http://purl.obolibrary.org/obo/MONDO_0000332	An ehlrichiosis caused by Neorickettsia sennetsu.	DOID:0050485|SNOMEDCT:21013006|UMLS:C0520779|MESH:C537582
MONDO:0002997	anterior cranial fossa meningioma	biolink:Disease	mondo	NCIT:C5286|UMLS:C1332301|DOID:4436		meningioma of anterior fossa|meningioma of the anterior fossa|meningioma (disease) of anterior cranial fossa|anterior cranial fossa meningioma (disease)|meningioma of anterior cranial fossa|meningioma of the anterior cranial fossa|anterior fossa meningioma	http://purl.obolibrary.org/obo/MONDO_0002997	A meningioma that affects the anterior cranial fossa.	DOID:4436|NCIT:C5286|UMLS:C1332301
HP:0011792	Neoplasm by histology	biolink:PhenotypicFeature	mondo	UMLS:C4023186			http://purl.obolibrary.org/obo/HP_0011792	Neoplasm categorized according to type of histological abnormality.	
MONDO:0002998	skull base meningioma	biolink:Disease	mondo	UMLS:C1335976|NCIT:C5272|DOID:4437		meningioma of skull base|basicranium meningioma (disease)|meningioma (disease) of basicranium|meningioma of the skull base|skull base meningioma	http://purl.obolibrary.org/obo/MONDO_0002998	A meningioma that arises from the skull base.	DOID:4437|NCIT:C5272|UMLS:C1335976
MONDO:0024302	internal hirudiniasis	biolink:Disease	mondo	SCTID:187227006|ICD10:B83.4|UMLS:C0348999			http://purl.obolibrary.org/obo/MONDO_0024302	A condition resulting from accidental ingestion of leeches in drinking water. They may attach themselves to the wall of the pharynx, nasal cavity, or larynx.	SNOMEDCT:187227006|UMLS:C0348999
MONDO:0000331	Rickettsia helvetica spotted fever	biolink:Disease	mondo	DOID:0050484		Rickettsia helvetica infectious disease|Rickettsia helvetica disease or disorder|Rickettsia helvetica caused disease or disorder|aneruptive fever|Rickettsia helvetica aneruptive fever	http://purl.obolibrary.org/obo/MONDO_0000331	A disease caused by infection with Rickettsia helvetica.	DOID:0050484
HP:0011793	Neoplasm by anatomical site	biolink:PhenotypicFeature	mondo	UMLS:C4023185			http://purl.obolibrary.org/obo/HP_0011793	Neoplasm categorized according to the anatomical site of origin of the neoplasm.	
MONDO:0002999	central nervous system germinoma	biolink:Disease	mondo	NCIT:C7009|DOID:4438	ordo_clinical_subtype	germinoma of central nervous system|intracranial germinoma|central nervous system germinoma (disease)|germinoma of the central nervous system|central nervous system germinoma|germinoma of CNS|germinoma of the CNS	http://purl.obolibrary.org/obo/MONDO_0002999	A malignant germ cell tumor arising from the central nervous system. It is composed of uniform cells resembling primitive germ cells. These cells have large, vesicular nuclei, prominent nucleoli and a clear, glycogen-rich cytoplasm. Additional features are lymphoid or lymphoplasmacytic infiltrates and, less frequently, scattered syncytiotrophoblastic giant cells. (Adapted from WHO)	NCIT:C7009|DOID:4438
MONDO:0000330	endemic typhus	biolink:Disease	mondo	NCIT:C84688|UMLS:CN206047|DOID:0050481|MESH:D014437|MedDRA:10028282|Orphanet:83315|ICD10:A75.2	ordo_disease	toulon typhus|urban typhus|cat flea rickettsiosis|endemic flea-borne typhus|urban typhus of Malaya|shop typhus|rat-flea typhus|fleaborne typhus|Rickettsia felis spotted fever|endemic typhus fever|murine typhus	http://purl.obolibrary.org/obo/MONDO_0000330	A bacterial infection caused by Rickettsia typhi.	UMLS:CN206047|MEDDRA:10028282|ORPHA:83315|NCIT:C84688|MESH:D014437|DOID:0050481
MONDO:0024301	acquired mineral metabolism disease	biolink:Disease	mondo	DOID:0050032		acquired mineral metabolism disease|mineral metabolism disease	http://purl.obolibrary.org/obo/MONDO_0024301	An instance of mineral metabolism disease that is acquired during the lifetime of the individual.	DOID:0050032
MONDO:0000337	exanthema subitum	biolink:Disease	mondo	COHD:135745|UMLS:C0595993|EFO:1001320|UMLS:C0015231|ICD10:B08.2|NCIT:C128420|MESH:D005077|ICD9:058.1|ICD9:057.8|DOID:0050495|ICD9:058.10|SCTID:54385001|ICD10:B08.20		roseola Infantum|pseudorubella|exanthem subitum|sixth disease|roseola	http://purl.obolibrary.org/obo/MONDO_0000337	An infection that is due to human herpesvirus (HHV) types 6 or 7; it is characterized by 3-5 days of high fever followed by the acute onset of a rosy, pink, non-pruritic, macular rash that is predominantly on the neck and trunk.	DOID:0050495|NCIT:C128420|UMLS:C0595993|MESH:D005077|UMLS:C0015231|SNOMEDCT:54385001
MONDO:0024304	ichthyosis vulgaris	biolink:Disease	mondo	NCIT:C84778|GARD:0006752		ichthyosis vulgaris|fish scale disease|common ichthyosis	http://purl.obolibrary.org/obo/MONDO_0024304	The most common form of ichthyosis. It is an autosomal dominant inherited or acquired disorder characterized by scaling and desquamation of the skin.	NCIT:C84778
MONDO:0002992	obsolete juvenile xanthogranuloma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002992		
MONDO:0024303	external hirudiniasis	biolink:Disease	mondo	SCTID:1086871000119109|ICD10:B88.3|UMLS:C0392037			http://purl.obolibrary.org/obo/MONDO_0024303	The attachment of leeches to the skin. After the leeches drop off, bleeding may continue as a result of the action of hirudin. Bites may become infected or ulcerate.	SNOMEDCT:1086871000119109|UMLS:C0392037
MONDO:0002993	pancreatic somatostatinoma	biolink:Disease	mondo	DOID:4432|NCIT:C95595|EFO:1001964|UMLS:C1368041		pancreatic somatostatin cell tumor|pancreatic delta cell somatostatin producing neoplasm	http://purl.obolibrary.org/obo/MONDO_0002993	A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss.	NCIT:C95595|DOID:4432|UMLS:C1368041
MONDO:0000336	meningovascular neurosyphilis	biolink:Disease	mondo	DOID:0050491			http://purl.obolibrary.org/obo/MONDO_0000336	A tertiary neurosyphilis that results in inflammation located in arteries of the brain or located in arteries of spinal cord. The infection has symptom headache, has symptom neck stiffness, has symptom dizziness, has symptom behavioral abnormalities, has symptom poor concentration, has symptom memory loss, has symptom lassitude, has symptom insomnia, has symptom blurred vision, has symptom weakness and wasting of shoulder-girdle and arm muscles, has symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has symptom paralysis of the legs due to thrombosis of spinal arteries.	DOID:0050491
MONDO:0002994	pancreatic delta cell neuroendocrine tumor	biolink:Disease	mondo	NCIT:C28396|DOID:4433|UMLS:C1335301		pancreatic Delta cell neuroendocrine tumor|pancreatic Delta cell neoplasm|pancreatic Delta cell NET|pancreatic Delta cell tumor|pancreatic delta cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0002994	A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It may be associated with inappropriate secretion of somatostatin and an associated clinical syndrome, or it may be hormonally inactive (non-functioning).	NCIT:C28396|UMLS:C1335301|DOID:4433
MONDO:0000335	parenchymatous neurosyphilis	biolink:Disease	mondo	DOID:0050490			http://purl.obolibrary.org/obo/MONDO_0000335	A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has symptom irritability, has symptom difficulty concentrating, has symptom deterioration of memory, has symptom defective judgment, has symptom headaches, has symptom insomnia, has symptom fatigue, and has symptom lethargy.	DOID:0050490
MONDO:0024306	acquired lactic acidosis	biolink:Disease	mondo	EFO:1000036|ICD10:E87.2|DOID:3650|UMLS_CUI:C0001125		lactic acidosis|acquired lactic acidosis	http://purl.obolibrary.org/obo/MONDO_0024306	An instance of lactic acidosis that is acquired during the lifetime of the individual.	DOID:3650
MONDO:0000334	multinodular goiter	biolink:Disease	mondo	DOID:0050489|SCTID:237570007|NCIT:C131438|UMLS:C0342208|OMIMPS:138800		goiter, multinodular	http://purl.obolibrary.org/obo/MONDO_0000334	Nodular goiter characterized by more than one discrete tissue mass.	DOID:0050489|UMLS:C0342208|SNOMEDCT:237570007|NCIT:C131438
MONDO:0002995	small intestine neuroendocrine tumor, well differentiated, low or intermediate grade	biolink:Disease	mondo	NCIT:C96061|UMLS:C3272528|EFO:1001928		small intestinal neuroendocrine tumor|small intestinal well differentiated endocrine tumor|small intestinal well differentiated endocrine tumor/carcinoma|carcinoid tumor of small intestine|small intestine neuroendocrine tumor|small intestinal NET	http://purl.obolibrary.org/obo/MONDO_0002995	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the small intestine.	NCIT:C96061|UMLS:C3272528
MONDO:0024305	acquired hyperprolactinemia	biolink:Disease	mondo	DOID:12700|ICD10:E22.1		Chiari-Frommel syndrome|acquired hyperprolactinemia (disease)|pregnancy-related A-G syndrome|hyperprolactinemia|hyperprolactinaemia	http://purl.obolibrary.org/obo/MONDO_0024305	An instance of hyperprolactinemia (disease) that is acquired during the lifetime of the individual.	DOID:12700
MONDO:0012319	major affective disorder 3	biolink:Disease	mondo	MESH:C566501|UMLS:C1864994|OMIM:609633		MAJOR affective disorder 3; MAFD3|bipolar affective disorder, early-onset|MAFD3|major affective disorder 3	http://purl.obolibrary.org/obo/MONDO_0012319		http://identifiers.org/omim/609633|MESH:C566501|UMLS:C1864994
MONDO:0012317	visceral neuropathy, familial, autosomal dominant	biolink:Disease	mondo	OMIM:609629|UMLS:C1864996		enteric neuropathy, familial|pseudoobstruction, idiopathic intestinal|pseudoobstruction, chronic intestinal, neuropathic|visceral neuropathy, familial, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0012317		http://identifiers.org/omim/609629|UMLS:C1864996
MONDO:0002990	benign deep fibrous histiocytoma	biolink:Disease	mondo	NCIT:C6492|DOID:4419|UMLS:C1266125		deep benign fibrous histiocytoma|benign deep fibrous histiocytoma	http://purl.obolibrary.org/obo/MONDO_0002990	A rare, well-circumscribed, pseudo-encapsulated benign fibrous histiocytoma that arises entirely within the subcutaneous tissue or deep soft tissue. It usually affects the extremities or the head and neck region. It recurs locally in a minority of cases.	NCIT:C6492|UMLS:C1266125|DOID:4419
MONDO:0012318	leukemia, chronic lymphocytic, susceptibility to, 1	biolink:Disease	mondo	OMIM:609630	predisposition	Clls1|leukemia, chronic lymphocytic, susceptibility to, type 1|leukemia, chronic lymphocytic, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0012318		http://identifiers.org/omim/609630
MONDO:0014979	myoclonus, intractable, neonatal	biolink:Disease	mondo	OMIM:617235|UMLS:C4310658		myoclonus, intractable, neonatal; NEIMY|NEIMY|myoclonus, intractable, neonatal	http://purl.obolibrary.org/obo/MONDO_0014979		http://identifiers.org/omim/617235|UMLS:C4310658
MONDO:0002991	adenocarcinofibroma	biolink:Disease	mondo	UMLS:C1510778|NCIT:C40035|DOID:4422		adenocarcinofibroma|adenofibroma, malignant|malignant adenofibroma	http://purl.obolibrary.org/obo/MONDO_0002991	A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells in a fibrotic stroma. Histologic variants include clear cell, serous, mucinous, and endometrioid adenocarcinofibroma.	UMLS:C1510778|NCIT:C40035|DOID:4422
UBERON:0035546	uveal vein	biolink:AnatomicalEntity	mondo			ciliary vein	http://purl.obolibrary.org/obo/UBERON_0035546		
UBERON:0035545	deep lymphatic vessel	biolink:AnatomicalEntity	mondo			deep lymph vessel	http://purl.obolibrary.org/obo/UBERON_0035545	The tubules that carry lymph throughout the body that are in the interior of the body or limbs.	
MONDO:0012322	holoprosencephaly 5	biolink:Disease	mondo	DOID:0110878|MESH:C566464|UMLS:C1864827|OMIM:609637|NCIT:C75460		holoprosencephaly type 5|HPE5|holoprosencephaly caused by mutation in ZIC2|holoprosencephaly 5|holoprosencephaly 5; HPE5|ZIC2 holoprosencephaly	http://purl.obolibrary.org/obo/MONDO_0012322	Holoprosencephaly associated with mutations in the ZIC2 gene.	NCIT:C75460|DOID:0110878|UMLS:C1864827|http://identifiers.org/omim/609637|MESH:C566464
MONDO:0014985	Fanconi anemia complementation group V	biolink:Disease	mondo	DOID:0111080|OMIM:617243|UMLS:C4310652		Fanconi anemia caused by mutation in MAD2L2|Fanconi Anemia, complementation Group 5|MAD2L2 Fanconi anemia|FANCV|Fanconi anemia, complementation GROUP V; FANCV|Fanconi anemia complementation group type V|Fanconi Anemia, complementation group V|Fanconi Anemia, complementation group type V	http://purl.obolibrary.org/obo/MONDO_0014985	Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene.	http://identifiers.org/omim/617243|UMLS:C4310652|DOID:0111080
MONDO:0012323	lethal acantholytic epidermolysis bullosa	biolink:Disease	mondo	ICD10:Q81.0|MESH:C535493|GARD:0009910|Orphanet:158687|OMIM:609638|UMLS:C1864826	ordo_disease|gard_rare	LAEB|epidermolysis bullosa, lethal acantholytic|EBLA|epidermolysis bullosa, lethal acantholytic; EBLA|lethal acantholytic epidermolysis bullosa	http://purl.obolibrary.org/obo/MONDO_0012323	Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized oozing erosions, usually in the absence of blisters.	MESH:C535493|ORPHA:158687|UMLS:C1864826|http://identifiers.org/omim/609638
MONDO:0014984	lung disease, immunodeficiency, and chromosome breakage syndrome;	biolink:Disease	mondo	OMIM:617241|UMLS:C4310653		LICS|lung disease, immunodeficiency, and chromosome breakage syndrome; LICS|lung disease, immunodeficiency, and chromosome breakage syndrome	http://purl.obolibrary.org/obo/MONDO_0014984		http://identifiers.org/omim/617241|UMLS:C4310653
MONDO:0012320	migraine, familial hemiplegic, 3	biolink:Disease	mondo	OMIM:609634|GARD:0010974|DOID:0111183|MESH:C566500|UMLS:C1864987		migraine, familial hemiplegic, type 3|SCN1A familial or sporadic hemiplegic migraine|FHM3|familial or sporadic hemiplegic migraine caused by mutation in SCN1A|migraine, familial hemiplegic, 3|migraine, familial hemiplegic, 3; FHM3	http://purl.obolibrary.org/obo/MONDO_0012320	Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the SCN1A gene.	UMLS:C1864987|http://identifiers.org/omim/609634|MESH:C566500|DOID:0111183
MONDO:0014983	congenital myasthenic syndrome 21	biolink:Disease	mondo	OMIM:617239|DOID:0110672|UMLS:C4310654		myasthenic syndrome, congenital, 21, presynaptic; CMS21|myasthenic syndrome, congenital, 21, presynaptic|congenital myasthenic syndrome 21, presynaptic|congenital myasthenic syndrome caused by mutation in SLC18A3|SLC18A3 congenital myasthenic syndrome|CMS21|congenital myasthenic syndrome type 21	http://purl.obolibrary.org/obo/MONDO_0014983	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC18A3 gene.	http://identifiers.org/omim/617239|DOID:0110672|UMLS:C4310654
UBERON:0035539	esophageal artery	biolink:AnatomicalEntity	mondo			aortic esophageal artery|oesophageal artery	http://purl.obolibrary.org/obo/UBERON_0035539	Any of several arteries that arise from the aorta and supply blood to the esophagus.	
MONDO:0012321	Alzheimer disease 10	biolink:Disease	mondo	MESH:C566465|ICD10:G30|OMIM:609636|DOID:0110043|UMLS:C1864828		Ad10|Alzheimer disease, familial, 10|Alzheimer disease 10|Alzheimer's disease 10|AD10|Alzheimer's disease type 10|Alzheimer disease type 10|Alzheimer disease familial 10	http://purl.obolibrary.org/obo/MONDO_0012321	An Alzheimer's disease that is characterized by an associated with variation in the region 7q36.	DOID:0110043|UMLS:C1864828|http://identifiers.org/omim/609636|MESH:C566465
MONDO:0014982	myopia 25, autosomal dominant	biolink:Disease	mondo	OMIM:617238|UMLS:C4310655		myopia (disease) caused by mutation in P4HA2|P4HA2 myopia (disease)|myopia 25, autosomal dominant|MYP25|myopia 25, autosomal dominant; MYP25	http://purl.obolibrary.org/obo/MONDO_0014982	Any myopia (disease) in which the cause of the disease is a mutation in the P4HA2 gene.	http://identifiers.org/omim/617238|UMLS:C4310655
MONDO:0012326	autosomal recessive nonsyndromic deafness 42	biolink:Disease	mondo	OMIM:609646|DOID:0110500|MESH:C566460|UMLS:C1864818|ICD10:H90.3		autosomal recessive nonsyndromic deafness type 42|ILDR1 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 42|deafness, autosomal recessive 42|autosomal recessive nonsyndromic deafness caused by mutation in ILDR1|deafness, autosomal recessive 42; DFNB42|DFNB42|autosomal recessive deafness 42	http://purl.obolibrary.org/obo/MONDO_0012326	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ILDR1 gene.	MESH:C566460|DOID:0110500|UMLS:C1864818|http://identifiers.org/omim/609646
MONDO:0014989	uncombable hair syndrome 2	biolink:Disease	mondo	UMLS:C4310649|OMIM:617251		UHS2|uncombable hair syndrome caused by mutation in TGM3|uncombable hair syndrome 2|uncombable hair syndrome 2; UHS2|TGM3 uncombable hair syndrome|uncombable hair syndrome type 2|UHS2	http://purl.obolibrary.org/obo/MONDO_0014989	Any uncombable hair syndrome in which the cause of the disease is a mutation in the TGM3 gene.	http://identifiers.org/omim/617251|UMLS:C4310649
MONDO:0012327	autosomal recessive nonsyndromic deafness 46	biolink:Disease	mondo	ICD10:H90.3|OMIM:609647|DOID:0110503|MESH:C566459|UMLS:C1864815		deafness, autosomal recessive 46; DFNB46|DFNB46|autosomal recessive nonsyndromic deafness type 46|deafness, autosomal recessive 46|autosomal recessive deafness 46	http://purl.obolibrary.org/obo/MONDO_0012327	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 18p11.32-p11.31.	MESH:C566459|DOID:0110503|UMLS:C1864815|http://identifiers.org/omim/609647
MONDO:0014988	obsolete 3-methylglutaconic aciduria, type VIII	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0014988		
MONDO:0014987	Fanconi anemia complementation group U	biolink:Disease	mondo	DOID:0111085|OMIM:617247|UMLS:C4310651		Fanconi Anemia, complementation group U|Fanconi Anemia, complementation group type U|Fanconi anemia complementation group type U|XRCC2 Fanconi anemia|FANCU|Fanconi anemia caused by mutation in XRCC2|Fanconi anemia, complementation GROUP U; FANCU	http://purl.obolibrary.org/obo/MONDO_0014987	Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene.	http://identifiers.org/omim/617247|UMLS:C4310651|DOID:0111085
MONDO:0012324	14q22q23 microdeletion syndrome	biolink:Disease	mondo	OMIM:609640|UMLS:C1864825|MESH:C535639|ICD10:Q93.5|GARD:0002384|Orphanet:264200	ordo_malformation_syndrome	monosomy 14q22-q23|chromosome 14Q22 deletion syndrome|14q22-q23 microdeletion syndrome|Growth deficiency, Facial anomalies, and brachydactyly|monosomy 14q22q23|Del(14)(q22q23)|Frias syndrome	http://purl.obolibrary.org/obo/MONDO_0012324	14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression.	MESH:C535639|ORPHA:264200|UMLS:C1864825|http://identifiers.org/omim/609640
MONDO:0012325	Nguyen syndrome	biolink:Disease	mondo	MESH:C536115|GARD:0009754|OMIM:609643|UMLS:C1864823	gard_rare	Nguyen syndrome|MCA/Mr with hypocholesterolemia due to familial hypobetalipoproteinemia|MCA/MR syndrome with hypocholesterolemia due to familial hypobetalipoproteinemia	http://purl.obolibrary.org/obo/MONDO_0012325		MESH:C536115|UMLS:C1864823|http://identifiers.org/omim/609643
MONDO:0014986	Fanconi anemia complementation group r	biolink:Disease	mondo	UMLS:C4284093|DOID:0111090|OMIM:617244		Fanconi anemia complementation group type R|RAD51 Fanconi anemia|Fanconi Anemia, complementation group R|Fanconi anemia caused by mutation in RAD51|Fanconi Anemia, complementation group type R|FANCR|Fanconi anemia, complementation GROUP R; FANCR	http://purl.obolibrary.org/obo/MONDO_0014986	Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene.	http://identifiers.org/omim/617244|UMLS:C4284093|DOID:0111090
HP:0011799	Abnormality of facial soft tissue	biolink:PhenotypicFeature	mondo	UMLS:C4023183		Malformation of facial soft tissue|Deformity of facial soft tissue|Abnormality of facial soft tissue|Anomaly of facial soft tissue	http://purl.obolibrary.org/obo/HP_0011799		
MONDO:0000329	obsolete epidemic typhus	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000329		
MONDO:0000328	hyperphosphatemia (disease)	biolink:Disease	mondo	MESH:D054559|HP:0002905|DOID:0050459|SCTID:20165001|UMLS:C0085681		hyperphosphatemia	http://purl.obolibrary.org/obo/MONDO_0000328	Abnormally high level of phosphate in the blood.	UMLS:C0085681|DOID:0050459|MESH:D054559|SNOMEDCT:20165001|NCIT:C113750
MONDO:0000327	Buruli ulcer disease	biolink:Disease	mondo	DOID:0050456|ICD10:A31.1|SCTID:15845006|MESH:D054312|EFO:1001281|UMLS:C0085568|NCIT:C84604		Mycobacterium ulcerans infectious disease|Mycobacterium ulcerans caused disease or disorder|Searl ulcer|Searle's ulcer|Mossman ulcer|Mycobacterium ulcerans disease or disorder|Buruli ulcer|Bairnsdale ulcer|Daintree ulcer	http://purl.obolibrary.org/obo/MONDO_0000327	A cutaneous infection caused by Mycobacterium ulcerans. It presents with painless nodular swelling of the skin, leading to the formation of necrotizing ulcers.	UMLS:C0085568|MESH:D054312|DOID:0050456|SNOMEDCT:15845006|NCIT:C84604
MONDO:0014981	immunodeficiency 49	biolink:Disease	mondo	OMIM:617237|UMLS:C4310656		immunodeficiency 49; IMD49|BCL11B primary immunodeficiency disease|immunodeficiency type 49|SCID, T cell-Negative, B cell-Positive, Nk cell-Positive, with intellectual disability, spasticity, and craniofacial abnormalities|IMD49|severe combined immunodeficiency, T cell-Negative, B cell-Positive, Nk cell-Positive, with intellectual disability, spasticity, and craniofacial abnormalities|immunodeficiency 49|primary immunodeficiency disease caused by mutation in BCL11B	http://purl.obolibrary.org/obo/MONDO_0014981	Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene.	http://identifiers.org/omim/617237|UMLS:C4310656
MONDO:0002989	benign fibrous histiocytoma	biolink:Disease	mondo	ICDO:8830/0|DOID:4415|UMLS:C0206644|MESH:D018219|NCIT:C3739		fibrous histiocytoma NOS (morphologic abnormality)|histiocytoma, fibrous, benign|fibroxanthoma|benign fibrous histiocytoma|benign fibrous histiocytoma (morphologic abnormality)|fibroxanthoma NOS (morphologic abnormality)|fibrous histiocytoma	http://purl.obolibrary.org/obo/MONDO_0002989	A benign neoplasm composed of fibroblastic spindle cells in a whorled storiform pattern. It is characterized by the presence of foam cells, inflammatory cells, hemosiderin deposition and stromal hemorrhage.	DOID:4415|UMLS:C0206644|MESH:D018219|NCIT:C3739
MONDO:0014980	cone-rod dystrophy and hearing loss	biolink:Disease	mondo	OMIMPS:617236|UMLS:C4310657|EFO:0009151		CRDHL|cone-rod dystrophy and hearing loss|cone-rod dystrophy and hearing loss; CRDHL	http://purl.obolibrary.org/obo/MONDO_0014980		UMLS:C4310657
MONDO:0000344	Ross river fever	biolink:Disease	mondo	SCTID:602001|DOID:0050518|UMLS:C0035865		Ross River virus caused disease or disorder|Ross River virus disease|Ross River virus disease or disorder|Ross River virus infectious disease	http://purl.obolibrary.org/obo/MONDO_0000344	A disease caused by infection with Ross River virus.	UMLS:C0035865|SNOMEDCT:602001|DOID:0050518
MONDO:0000343	Barmah forest virus disease	biolink:Disease	mondo	DOID:0050517		Barmah Forest virus infectious disease|Barmah Forest virus caused disease or disorder|Barmah Forest virus disease or disorder	http://purl.obolibrary.org/obo/MONDO_0000343	A disease caused by infection with Barmah Forest virus.	DOID:0050517
MONDO:0000342	O'nyong'nyong fever	biolink:Disease	mondo	MEDGEN:547234|SCTID:85579005|ICD10:A92.1|DOID:0050516|UMLS:C0276286		O'nyong-nyong virus disease or disorder|O'nyong-nyong virus infectious disease|O'nyong-nyong virus caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0000342	An disease or disorder caused by infection with O'nyong-nyong virus.	SNOMEDCT:85579005|DOID:0050516|UMLS:C0276286
MONDO:0000341	paralytic poliomyelitis	biolink:Disease	mondo	DOID:0050515			http://purl.obolibrary.org/obo/MONDO_0000341	A poliomyelitis that results in destruction located in motor neurons of central nervous system, has material basis in Human poliovirus 1, has material basis in Human poliovirus 2, or has material basis in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis.	DOID:0050515
MONDO:0000348	obsolete posterior polar cataract (disease)	biolink:Disease	mondo	DOID:0050537		cataract, posterior polar	http://purl.obolibrary.org/obo/MONDO_0000348		DOID:0050537
MONDO:0000347	obsolete adult T-cell leukemia/lymphoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000347		
MONDO:0000346	Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type	biolink:Disease	mondo	DOID:0050522		Balkan hemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0000346		DOID:0050522
MONDO:0000345	Oropouche fever	biolink:Disease	mondo	DOID:0050521|MEDGEN:547314|SCTID:72880002|UMLS:C0276386		Oropouche virus disease or disorder|Oropouche virus infectious disease|Oropouche virus caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0000345	A disease caused by infection with Oropouche virus.	DOID:0050521|UMLS:C0276386|SNOMEDCT:72880002
MONDO:0012308	Joubert syndrome with renal defect	biolink:Disease	mondo	ICD10:Q61.5|Orphanet:220497|SCTID:716999001|GARD:0010169|DOID:0110999|OMIM:609583|ICD10:Q04.3|NCIT:C74997|MESH:C536296	gard_rare|ordo_disease	Joubert syndrome 4|JBTS4|Joubert syndrome 4; JBTS4|JS-R|Joubert syndrome with renal anomalies|Joubert syndrome type 4	http://purl.obolibrary.org/obo/MONDO_0012308	Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.	http://identifiers.org/omim/609583|MESH:C536296|NCIT:C74997|DOID:0110999|SNOMEDCT:716999001|ORPHA:220497
UBERON:0035551	deep vasculature	biolink:AnatomicalEntity	mondo			deep part of circulatory system	http://purl.obolibrary.org/obo/UBERON_0035551	The part of the circulatory system that lies deep beneath the subcutaneous tissue layers away from the surface of the skin.	
MONDO:0012309	parietal foramina 2	biolink:Disease	mondo	OMIM:609597|MESH:C566510|UMLS:C1865044		parietal foramina type 2|parietal foramina caused by mutation in ALX4|PFM2|ALX4 parietal foramina|parietal foramina 2; PFM2|parietal foramina 2	http://purl.obolibrary.org/obo/MONDO_0012309	Any parietal foramina in which the cause of the disease is a mutation in the ALX4 gene.	http://identifiers.org/omim/609597|MESH:C566510|UMLS:C1865044
UBERON:0035550	superficial vein	biolink:AnatomicalEntity	mondo			superficial veins|superficial vessels|superfical vein	http://purl.obolibrary.org/obo/UBERON_0035550	Any of the veins carrying deoxygenated blood from the subcutaneous tissue layers.	
MONDO:0014969	isolated sedoheptulokinase deficiency	biolink:Disease	mondo	UMLS:C1291373|OMIM:617213|SCTID:124309005|ICD9:277.6|Orphanet:440713	ordo_disease	sedoheptulokinase deficiency; SHPKD|SHPKD|sedoheptulokinase deficiency|isolated SHPK deficiency	http://purl.obolibrary.org/obo/MONDO_0014969		SNOMEDCT:124309005|ORPHA:440713|http://identifiers.org/omim/617213|UMLS:C1291373
MONDO:0012306	cardiomyopathy, familial restrictive, 2	biolink:Disease	mondo	UMLS:C1865071|MESH:C566512|DOID:0111426|OMIM:609578		cardiomyopathy, familial restrictive, 2; RCM2|RCM2|cardiomyopathy, familial restrictive, 2	http://purl.obolibrary.org/obo/MONDO_0012306		http://identifiers.org/omim/609578|MESH:C566512|DOID:0111426|UMLS:C1865071
UBERON:0035553	left cardiac chamber	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0035553	Any chamber of the left side of the heart	
MONDO:0014968	encephalopathy, progressive, with amyotrophy and optic atrophy	biolink:Disease	mondo	OMIM:617207|UMLS:C4310667		encephalopathy, progressive, with amyotrophy and optic atrophy; PEAMO|encephalopathy, progressive, with amyotrophy and optic atrophy|PEAMO	http://purl.obolibrary.org/obo/MONDO_0014968		UMLS:C4310667|http://identifiers.org/omim/617207
MONDO:0012307	familial scaphocephaly syndrome, McGillivray type	biolink:Disease	mondo	Orphanet:168624|ICD10:Q87.0|MESH:C566511|OMIM:609579|UMLS:C1865070	ordo_malformation_syndrome	scaphocephaly, maxillary retrusion, and intellectual disability|scaphocephaly, maxillary retrusion, and mental retardation|scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0012307	Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.	http://identifiers.org/omim/609579|MESH:C566511|UMLS:C1865070|ORPHA:168624
UBERON:0035552	deep vein	biolink:AnatomicalEntity	mondo			deep veins|deep vessels	http://purl.obolibrary.org/obo/UBERON_0035552	A blood vessel carrying deoxygenated blood far beneath the skin usually accompanying an artery.	
MONDO:0000340	bulbospinal polio	biolink:Disease	mondo	DOID:0050514			http://purl.obolibrary.org/obo/MONDO_0000340	A paralytic poliomyelitis in which the site of paralysis is the bulbospinal tract.	DOID:0050514
PATO-PROPERTY:different_in_magnitude_relative_to	different_in_magnitude_relative_to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/pato#different_in_magnitude_relative_to	q1 different_in_magnitude_relative_to q2 if and only if magnitude(q1) NOT =~ magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale.	
UBERON:0035554	right cardiac chamber	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0035554	Any chamber of the right side of the heart	
MONDO:0012311	spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness	biolink:Disease	mondo	OMIM:609616|MESH:C566507|UMLS:C1865022		spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness	http://purl.obolibrary.org/obo/MONDO_0012311		MESH:C566507|UMLS:C1865022|http://identifiers.org/omim/609616
MONDO:0014974	sudden cardiac failure, alcohol-induced	biolink:Disease	mondo	OMIM:617223|UMLS:C4310663		sudden Cardiac failure, alcohol-induced|SCFAI|sudden cardiac failure, alcohol-induced; SCFAI	http://purl.obolibrary.org/obo/MONDO_0014974		http://identifiers.org/omim/617223|UMLS:C4310663
UBERON:0035548	colic artery	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0035548		
MONDO:0012312	short QT syndrome type 1	biolink:Disease	mondo	OMIM:609620|UMLS:C1865020|MESH:C566506		short QT syndrome 1; SQT1|SQT1|short QT syndrome type 1|KCNH2 short QT syndrome|short QT syndrome 1|SQTS|short QT syndrome caused by mutation in KCNH2	http://purl.obolibrary.org/obo/MONDO_0012312	Any short QT syndrome in which the cause of the disease is a mutation in the KCNH2 gene.	MESH:C566506|UMLS:C1865020|http://identifiers.org/omim/609620
MONDO:0014973	sudden cardiac failure, infantile	biolink:Disease	mondo	OMIM:617222|UMLS:C4310664		sudden Cardiac failure, infantile|SCFI|SCFI|sudden cardiac failure, infantile; SCFI	http://purl.obolibrary.org/obo/MONDO_0014973		http://identifiers.org/omim/617222|UMLS:C4310664
MONDO:0014972	chromosome 19q13.11 deletion syndrome, proximal	biolink:Disease	mondo	OMIM:617219|UMLS:C4311046			http://purl.obolibrary.org/obo/MONDO_0014972		http://identifiers.org/omim/617219|UMLS:C4311046
MONDO:0014971	amelogenesis imperfecta, hypomaturation type, IIa6	biolink:Disease	mondo	OMIM:617217|UMLS:C4310665		AI2A6|amelogenesis imperfecta, hypomaturation type, IIa6|amelogenesis imperfecta, hypomaturation type, IIa6; AI2A6	http://purl.obolibrary.org/obo/MONDO_0014971		http://identifiers.org/omim/617217|UMLS:C4310665
UBERON:0035549	vasculature of integument	biolink:AnatomicalEntity	mondo			vasculature of skin|superficial vasculature|dermis vasculature|hypodermis vasculature|skin vasculature|superficial part of circulatory system|subcutaneous vasculature	http://purl.obolibrary.org/obo/UBERON_0035549	The part of the circulatory system that lies within the subcutaneous tissue layers close to the surface of the skin.	
MONDO:0012310	fibrosis of extraocular muscles, congenital, with synergistic divergence	biolink:Disease	mondo	OMIM:609612|UMLS:C1865040		fibrosis of extraocular muscles, congenital, with synergistic divergence|congenital fibrosis syndrome with synergistic divergence|external ophthalmoplegia, synergistic divergence, jaw winking, and oculocutaneous hypopigmentation|external ophthalmoplegia with synergistic divergence	http://purl.obolibrary.org/obo/MONDO_0012310		UMLS:C1865040|http://identifiers.org/omim/609612
MONDO:0012315	distal 10q deletion syndrome	biolink:Disease	mondo	MESH:C567182|UMLS:C4305277|ICD10:Q93.5|SCTID:718687003|UMLS:C2674937|OMIM:609625|Orphanet:96148|DOID:0060390|GARD:0003711	ordo_malformation_syndrome	telomeric deletion 10q|distal monosomy 10q|terminal chromosome 10Q26 deletion syndrome|10q monosomy|distal deletion 10q|chromosome 10q deletion|terminal chromosome 10q26 deletion syndrome|deletion 10q|monosomy 10qter|chromosome 10q26 deletion syndrome|distal monosomy type 10q|monosomy 10q|partial monosomy 10q|10q deletion	http://purl.obolibrary.org/obo/MONDO_0012315	Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay.	ORPHA:96148|UMLS:C2674937|DOID:0060390|SNOMEDCT:718687003|MESH:C567182|http://identifiers.org/omim/609625|UMLS:C4305277
MONDO:0014978	preimplantation embryonic lethality 2	biolink:Disease	mondo	UMLS:C4310659|OMIM:617234		preimplantation embryonic lethality type 2|PREMBL2|PADI6 preimplantation embryonic lethality|preimplantation embryonic lethality caused by mutation in PADI6|preimplantation embryonic lethality 2|preimplantation embryonic lethality 2; PREMBL2	http://purl.obolibrary.org/obo/MONDO_0014978	Any preimplantation embryonic lethality in which the cause of the disease is a mutation in the PADI6 gene.	http://identifiers.org/omim/617234|UMLS:C4310659
MONDO:0012316	Majeed syndrome	biolink:Disease	mondo	OMIM:609628|Orphanet:77297|SCTID:703540008|NCIT:C119058|GARD:0010088|ICD9:759.89|MedDRA:10072223|MESH:C537839|UMLS:C1864997	gard_rare|ordo_disease	chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic Anemia, and neutrophilic dermatosis|Majeed syndrome|congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis|MAJEED syndrome; MJDS|dyserythropoietic anemia, and neutrophilic dermatosis|MJDS|chronic recurrent multifocal osteomyelitis, congenital|chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome|CDA and CRMO	http://purl.obolibrary.org/obo/MONDO_0012316	Majeed syndrome is a rare genetic multisystemic disorder characterized by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and variable transient inflammatory dermatosis.	SNOMEDCT:703540008|MESH:C537839|ORPHA:77297|MEDDRA:10072223|NCIT:C119058|UMLS:C1864997|http://identifiers.org/omim/609628
MONDO:0014977	autosomal recessive limb-girdle muscular dystrophy type 2Z	biolink:Disease	mondo	Orphanet:480682|UMLS:C4310660|NCIT:C142082|OMIM:617232|UMLS:CN776834	ordo_disease	autosomal recessive limb-girdle muscular dystrophy caused by mutation in POGLUT1|LGMD2Z|muscular dystrophy, limb-girdle, type 2Z|POGLUT1 autosomal recessive limb-girdle muscular dystrophy|limb-girdle muscular dystrophy type 2Z	http://purl.obolibrary.org/obo/MONDO_0014977	An autosomal recessive condition caused by mutation(s) in the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking.	ORPHA:480682|http://identifiers.org/omim/617232|NCIT:C142082|UMLS:CN776834|UMLS:C4310660
MONDO:0012313	short QT syndrome type 2	biolink:Disease	mondo	UMLS:C1865019|OMIM:609621|MESH:C566505		short QT syndrome 2; SQT2|KCNQ1 short QT syndrome|SQT2|short QT syndrome type 2|short QT syndrome caused by mutation in KCNQ1|short QT syndrome 2	http://purl.obolibrary.org/obo/MONDO_0012313	Any short QT syndrome in which the cause of the disease is a mutation in the KCNQ1 gene.	MESH:C566505|UMLS:C1865019|http://identifiers.org/omim/609621
MONDO:0014976	lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	biolink:Disease	mondo	UMLS:C4310661|Orphanet:478049|OMIM:617228|DOID:0111488	ordo_disease	combined oxidative phosphorylation deficiency caused by mutation in MIPEP|combined oxidative phosphorylation deficiency type 31|COXPD31|combined oxidative phosphorylation deficiency 31; COXPD31|combined oxidative phosphorylation deficiency 31|MIPEP combined oxidative phosphorylation deficiency	http://purl.obolibrary.org/obo/MONDO_0014976	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.	DOID:0111488|http://identifiers.org/omim/617228|ORPHA:478049|UMLS:C4310661
MONDO:0014975	autosomal recessive spastic paraplegia type 78	biolink:Disease	mondo	UMLS:C4310662|Orphanet:513436|OMIM:617225	ordo_disease	ATP13A2 hereditary spastic paraplegia|hereditary spastic paraplegia caused by mutation in ATP13A2|spastic paraplegia 78, autosomal recessive; SPG78|spastic paraplegia 78, autosomal recessive|SPG78	http://purl.obolibrary.org/obo/MONDO_0014975	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATP13A2 gene.	ORPHA:513436|http://identifiers.org/omim/617225|UMLS:C4310662
MONDO:0012314	short QT syndrome type 3	biolink:Disease	mondo	UMLS:C1865018|OMIM:609622|MESH:C566504		short QT syndrome caused by mutation in KCNJ2|SQT3|short QT syndrome 3; SQT3|short QT syndrome type 3|short QT syndrome 3|KCNJ2 short QT syndrome	http://purl.obolibrary.org/obo/MONDO_0012314	Any short QT syndrome in which the cause of the disease is a mutation in the KCNJ2 gene.	MESH:C566504|UMLS:C1865018|http://identifiers.org/omim/609622
MONDO:0000339	spinal polio	biolink:Disease	mondo	DOID:0050513			http://purl.obolibrary.org/obo/MONDO_0000339	A paralytic poliomyelitis in which the site of paralysis is the spinal cord.	DOID:0050513
MONDO:0000338	variola major infectious disease	biolink:Disease	mondo	COHD:134563|SCTID:47452006|ICD9:050.0|DOID:0050508|UMLS:C1812609		variola major	http://purl.obolibrary.org/obo/MONDO_0000338		DOID:0050508|UMLS:C1812609|SNOMEDCT:47452006
MONDO:0014970	spermatogenic failure 17	biolink:Disease	mondo	OMIM:617214|DOID:0070174|UMLS:C4310666		SPGF17|spermatogenic failure 17|spermatogenic failure type 17|PLCZ1 azoospermia|Male infertility due to oocyte Activation failure|azoospermia caused by mutation in PLCZ1|spermatogenic failure 17; SPGF17	http://purl.obolibrary.org/obo/MONDO_0014970	Any azoospermia in which the cause of the disease is a mutation in the PLCZ1 gene.	http://identifiers.org/omim/617214|DOID:0070174|UMLS:C4310666
GO:0099531	presynaptic process involved in chemical synaptic transmission	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0099531	The pathway leading to secretion of a neurotransmitter from the presynapse as part of synaptic transmission.	
GO:1903353	regulation of nucleus organization	biolink:OntologyClass	mondo			regulation of nuclear organization|regulation of nuclear organisation|regulation of nuclear organization and biogenesis|regulation of nuclear morphology|regulation of nucleus organization and biogenesis	http://purl.obolibrary.org/obo/GO_1903353	Any process that modulates the frequency, rate or extent of nucleus organization.	
GO:0051590	positive regulation of neurotransmitter transport	biolink:OntologyClass	mondo			up regulation of neurotransmitter transport|stimulation of neurotransmitter transport|up-regulation of neurotransmitter transport|activation of neurotransmitter transport|upregulation of neurotransmitter transport	http://purl.obolibrary.org/obo/GO_0051590	Any process that activates or increases the frequency, rate or extent of the directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
GO:0099537	trans-synaptic signaling	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0099537	Cell-cell signaling in either direction across the synaptic cleft.	
GO:0099536	synaptic signaling	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0099536	Cell-cell signaling to, from or within a synapse.	
MONDO:0002900	cerebral neuroblastoma	biolink:Disease	mondo	SCTID:281560004|NCIT:C4826|DOID:4164|UMLS:C0559458		neuroblastoma of cerebral hemispheres|neuroblastoma of the cerebral hemispheres|neuroblastoma of the cerebrum|neuroblastoma of the cerebral hemisphere|neuroblastoma of brain|neuroblastoma of telencephalon|cerebral neuroblastoma, PNET|cerebral neuroblastoma|neuroblastoma of cerebrum|telencephalon neuroblastoma|cerebral hemispheric neuroblastoma|central nervous system neuroblastoma	http://purl.obolibrary.org/obo/MONDO_0002900	A neuroblastoma arising from the cerebral hemispheres.	UMLS:C0559458|NCIT:C4826|SNOMEDCT:281560004|DOID:4164
NCBITaxon:61172		organism taxon	mondo				http://purl.obolibrary.org/obo/NCBITaxon_61172		
HGNC:6404	KPTN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6404		
HGNC:6407	KRAS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6407		
GO:0002637	regulation of immunoglobulin production	biolink:OntologyClass	mondo			regulation of antibody production|regulation of immunoglobulin secretion|regulation of immunoglobulin biosynthetic process	http://purl.obolibrary.org/obo/GO_0002637	Any process that modulates the frequency, rate, or extent of immunoglobulin production.	
CHEBI:51570	biotins	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_51570	Compounds containing a biotin (5-[(3aS,4S,6aR)-2-oxohexahydro-1H-thieno[3,4-d]imidazol-4-yl]pentanoic acid) skeleton.	
GO:0002638	negative regulation of immunoglobulin production	biolink:OntologyClass	mondo			negative regulation of immunoglobulin secretion|down-regulation of immunoglobulin production|down regulation of immunoglobulin production|inhibition of immunoglobulin production|downregulation of immunoglobulin production|negative regulation of immunoglobulin biosynthetic process	http://purl.obolibrary.org/obo/GO_0002638	Any process that stops, prevents, or reduces the frequency, rate, or extent of immunoglobulin production.	
GO:0002639	positive regulation of immunoglobulin production	biolink:OntologyClass	mondo			stimulation of immunoglobulin production|upregulation of immunoglobulin production|positive regulation of immunoglobulin secretion|positive regulation of immunoglobulin biosynthetic process|up-regulation of immunoglobulin production|up regulation of immunoglobulin production|activation of immunoglobulin production	http://purl.obolibrary.org/obo/GO_0002639	Any process that activates or increases the frequency, rate, or extent of immunoglobulin production.	
GO:0099547	regulation of translation at synapse, modulating synaptic transmission	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0099547	Any process that modulates synaptic transmission by regulating translation occurring at the synapse.	
GO:0099512	supramolecular fiber	biolink:OntologyClass	mondo			fibril	http://purl.obolibrary.org/obo/GO_0099512	A polymer consisting of an indefinite number of protein or protein complex subunits that have polymerised to form a fiber-shaped structure.	
HGNC:6408	MAFB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6408		
HGNC:6412	KRT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6412		
HGNC:6413	KRT10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6413		
HGNC:6414	KRT12	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6414		
HGNC:6415	KRT13	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6415		
HGNC:6416	KRT14	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6416		
GO:0099522	region of cytosol	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0099522	Any (proper) part of the cytosol of a single cell of sufficient size to still be considered cytosol.	
GO:0099523	presynaptic cytosol	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0099523	The region of the cytosol consisting of all cytosol that is part of the presynapse.	
GO:1903379	regulation of mitotic chromosome condensation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1903379	Any process that modulates the frequency, rate or extent of mitotic chromosome condensation.	
HGNC:6423	KRT16	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6423		
UBERON:0035505	right inguinal part of abdomen	biolink:AnatomicalEntity	mondo			right iliac fossa viewed surgically|right iliac region|right inguinal region	http://purl.obolibrary.org/obo/UBERON_0035505		
UBERON:0035508	branch of posterior cerebral artery	biolink:AnatomicalEntity	mondo			posterior cerebral arterial branch	http://purl.obolibrary.org/obo/UBERON_0035508		
HGNC:6427	KRT17	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6427		
GO:1903380	positive regulation of mitotic chromosome condensation	biolink:OntologyClass	mondo			up-regulation of mitotic chromosome condensation|up regulation of mitotic chromosome condensation|activation of mitotic chromosome condensation|upregulation of mitotic chromosome condensation	http://purl.obolibrary.org/obo/GO_1903380	Any process that activates or increases the frequency, rate or extent of mitotic chromosome condensation.	
NCBITaxon:4892	Saccharomycetales	organism taxon	mondo	GC_ID:1		budding yeasts|Endomycetales	http://purl.obolibrary.org/obo/NCBITaxon_4892		
NCBITaxon:4893	Saccharomycetaceae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_4893		
NCBITaxon:4890	Ascomycota	organism taxon	mondo	GC_ID:1|PMID:17572334		ascomycetes|sac fungi|ascomycetes	http://purl.obolibrary.org/obo/NCBITaxon_4890		
NCBITaxon:4891	Saccharomycetes	organism taxon	mondo	GC_ID:1		Hemiascomycetes	http://purl.obolibrary.org/obo/NCBITaxon_4891		
GO:0099529	neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0099529	Neurotransmitter receptor activity occurring in the postsynaptic membrane that is involved in regulating postsynaptic membrane potential, either directly (ionotropic receptors) or indirectly (e.g. via GPCR activation of an ion channel).	
GO:0099524	postsynaptic cytosol	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0099524	The region of the cytosol consisting of all cytosol that is part of the postsynapse.	
MONDO:0002930	kidney sarcoma	biolink:Disease	mondo	UMLS:C0346251|ICD9:189.0|SCTID:254918001|NCIT:C4525|DOID:4242		renal sarcoma|sarcoma of kidney|sarcoma of the kidney|kidney sarcoma	http://purl.obolibrary.org/obo/MONDO_0002930	A sarcoma involving a kidney.	NCIT:C4525|UMLS:C0346251|DOID:4242|SNOMEDCT:254918001
GO:0099577	regulation of translation at presynapse, modulating synaptic transmission	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0099577	Any process that modulates synaptic transmission by regulating translation occurring at the presynapse.	
GO:0099578	regulation of translation at postsynapse, modulating synaptic transmission	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0099578	Any process that modulates synaptic transmission by regulating translation occurring at the postsynapse.	
MONDO:0002931	conjunctivochalasis	biolink:Disease	mondo	DOID:4250|ICD10:H11.82|UMLS:C0878693|SCTID:408663001|ICD9:372.81|COHD:375817			http://purl.obolibrary.org/obo/MONDO_0002931		DOID:4250|SNOMEDCT:408663001|UMLS:C0878693
MONDO:0002932	obsolete conjunctival disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002932		
MONDO:0002933	osteosclerosis	biolink:Disease	mondo	NCIT:C41236|MESH:D010026|ICD10:Q78.2|UMLS:C0029464|SCTID:49347007|DOID:4254			http://purl.obolibrary.org/obo/MONDO_0002933	Abnormally high bone density.	NCIT:C41236|UMLS:C0029464|DOID:4254|MESH:D010026|SNOMEDCT:49347007
HP:0011730	Abnormal central sensory function	biolink:PhenotypicFeature	mondo	UMLS:C4023215		Abnormality of central sensory function	http://purl.obolibrary.org/obo/HP_0011730	An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord.	
MONDO:0014916	developmental and epileptic encephalopathy, 41	biolink:Disease	mondo	OMIM:617105|UMLS:C4310717|DOID:0080442		epileptic encephalopathy, early infantile, type 41|SLC1A2 early infantile epileptic encephalopathy|early infantile epileptic encephalopathy caused by mutation in SLC1A2|EIEE41|epileptic encephalopathy, early infantile, 41|epileptic encephalopathy, early infantile, 41; EIEE41|DEE41	http://purl.obolibrary.org/obo/MONDO_0014916	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC1A2 gene.	UMLS:C4310717|DOID:0080442|http://identifiers.org/omim/617105
HGNC:25088	SGO1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25088		
MONDO:0014915	short-rib thoracic dysplasia 16 with or without polydactyly	biolink:Disease	mondo	OMIM:617102|UMLS:C4310718		short-rib thoracic dysplasia 16 with or without polydactyly; SRTD16|short-rib thoracic dysplasia 16 with or without polydactyly|SRTD16	http://purl.obolibrary.org/obo/MONDO_0014915		UMLS:C4310718|http://identifiers.org/omim/617102
MONDO:0014914	Dias-Logan syndrome	biolink:Disease	mondo	OMIM:617101|UMLS:C4310833		Dias-Logan syndrome; DILOS|Dias-Logan syndrome|DILOS|BCL11A-related intellectual developmental disorder with persistence of fetal hemoglobin|intellectual developmental disorder with hereditary persistence of fetal Hemoglobin|intellectual developmental disorder with persistence of fetal Hemoglobin|intellectual developmental disorder with persistence of fetal HEMOGLOBIN	http://purl.obolibrary.org/obo/MONDO_0014914		UMLS:C4310833|http://identifiers.org/omim/617101
MONDO:0014913		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0014913		
MONDO:0014919	sessile serrated polyposis cancer syndrome	biolink:Disease	mondo	UMLS:C4310714|OMIM:617108		sessile serrated polyposis cancer syndrome; SSPCS|sessile serrated polyposis cancer syndrome|SSPCS	http://purl.obolibrary.org/obo/MONDO_0014919		http://identifiers.org/omim/617108|UMLS:C4310714
MONDO:0014918	tall stature-intellectual disability-renal anomalies syndrome	biolink:Disease	mondo	UMLS:C4310715|Orphanet:500095|OMIM:617107	ordo_malformation_syndrome	THAUVIN-robinet-Faivre syndrome; TROFAS|Thauvin-robinet-Faivre syndrome|TROFAS	http://purl.obolibrary.org/obo/MONDO_0014918		http://identifiers.org/omim/617107|UMLS:C4310715|ORPHA:500095
MONDO:0014917	developmental and epileptic encephalopathy, 42	biolink:Disease	mondo	OMIM:617106|UMLS:C4310716|DOID:0080454		epileptic encephalopathy, early infantile, type 42|CACNA1A early infantile epileptic encephalopathy|EIEE42|DEE42|early infantile epileptic encephalopathy caused by mutation in CACNA1A|epileptic encephalopathy, early infantile, 42; EIEE42|epileptic encephalopathy, early infantile, 42	http://purl.obolibrary.org/obo/MONDO_0014917	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CACNA1A gene.	http://identifiers.org/omim/617106|UMLS:C4310716|DOID:0080454
MONDO:0014923	peeling skin syndrome 5	biolink:Disease	mondo	UMLS:C4310710|OMIM:617115		peeling skin syndrome caused by mutation in SERPINB8|peeling skin syndrome type 5|peeling skin syndrome 5; PSS5|PSS5|SERPINB8 peeling skin syndrome|peeling skin syndrome 5|PSS5	http://purl.obolibrary.org/obo/MONDO_0014923	Any peeling skin syndrome in which the cause of the disease is a mutation in the SERPINB8 gene.	UMLS:C4310710|http://identifiers.org/omim/617115
MONDO:0014922	myofibrillar myopathy 7	biolink:Disease	mondo	UMLS:C4310711|DOID:0080098|OMIM:617114		MFM7|myofibrillar myopathy (disease) caused by mutation in KY|myopathy, myofibrillar, type 7|KY myofibrillar myopathy (disease)|alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy|myopathy, myofibrillar, 7; MFM7|myopathy, myofibrillar, 7	http://purl.obolibrary.org/obo/MONDO_0014922	Any myofibrillar myopathy in which the cause of the disease is a mutation in the KY gene.	UMLS:C4310711|DOID:0080098|http://identifiers.org/omim/617114
MONDO:0014921	developmental and epileptic encephalopathy, 43	biolink:Disease	mondo	UMLS:C4310712|DOID:0080447|OMIM:617113		epileptic encephalopathy, early infantile, 43; EIEE43|EIEE43|early infantile epileptic encephalopathy caused by mutation in GABRB3|epileptic encephalopathy, early infantile, 43|GABRB3 early infantile epileptic encephalopathy|DEE43|epileptic encephalopathy, early infantile, type 43	http://purl.obolibrary.org/obo/MONDO_0014921	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB3 gene.	UMLS:C4310712|DOID:0080447|http://identifiers.org/omim/617113
HGNC:6439	KRT2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6439		
MONDO:0014920	patterned macular dystrophy 3	biolink:Disease	mondo	UMLS:C4310713|OMIM:617111|Orphanet:466718|DOID:0060865|ICD10:H35.5	ordo_disease	MCRPE|MAPKAPK3 patterned macular dystrophy|patterned macular dystrophy type 3|MDPT3|macular dystrophy, patterned, type 3|Martinique crinkled retinal pigment epitheliopathy|macular dystrophy, patterned, 3|patterned macular dystrophy caused by mutation in MAPKAPK3|macular dystrophy, patterned, 3; MDPT3	http://purl.obolibrary.org/obo/MONDO_0014920	Any patterned macular dystrophy in which the cause of the disease is a mutation in the MAPKAPK3 gene.	UMLS:C4310713|ORPHA:466718|http://identifiers.org/omim/617111|DOID:0060865
MONDO:0002927	spindle cell sarcoma	biolink:Disease	mondo	ICDO:8801/3|NCIT:C27005|UMLS:C0205945|DOID:4235		spindle cell sarcoma	http://purl.obolibrary.org/obo/MONDO_0002927	A malignant mesenchymal neoplasm composed of spindle-shaped cells. This is a morphologic term which can be applied to a wide range of sarcomas.	NCIT:C27005|UMLS:C0205945|DOID:4235
HP:0011733	Abnormality of adrenal physiology	biolink:PhenotypicFeature	mondo	UMLS:C4023212			http://purl.obolibrary.org/obo/HP_0011733	A functional abnormality of the adrenal glands.	
MONDO:0002928	carcinosarcoma	biolink:Disease	mondo	UMLS:C1334603|UMLS:C0007140|UMLS:C0206627|NCIT:C34448|ICDO:8980/3|MESH:D002296|DOID:4236|GARD:0006966		malignant mixed mesodermal (mullerian) tumor|carcinosarcoma|mullerian mixed tumor (morphologic abnormality)|mixed tumor, Mullerian|mullerian mixed tumor|malignant mixed Mullerian tumor|mixed mesodermal (mullerian) tumor|carcinosarcoma, malignant|mesodermal mixed tumor (morphologic abnormality)|mixed Mullerian tumor|MMMT|mesodermal mixed tumor	http://purl.obolibrary.org/obo/MONDO_0002928	A malignant tumor composed of a mixture of carcinomatous and sarcomatous elements.	MESH:D002296|UMLS:C1334603|NCIT:C34448|DOID:4236|UMLS:C0206627|UMLS:C0007140
MONDO:0002929	pulmonary immaturity	biolink:Disease	mondo	DOID:424|COHD:258554|SCTID:42908004|ICD10:P28.0|ICD9:770.4		primary atelectasis, in perinatal period|primary atelectasis of newborn	http://purl.obolibrary.org/obo/MONDO_0002929		SNOMEDCT:42908004|DOID:424
MONDO:0002923	uterine corpus endometrial stromal sarcoma	biolink:Disease	mondo	DOID:4227|NCIT:C40219|UMLS:C1519849		uterine corpus endometrial stromal sarcoma|body of uterus endometrioid stromal sarcoma|endometrioid stromal sarcoma of body of uterus|uterine corpus ess|uterine corpus endometrial stromal tumor|body of uterus endometrial stromal sarcoma	http://purl.obolibrary.org/obo/MONDO_0002923	A uterine corpus sarcoma originating from the endometrial stroma. It is further subdivided into low grade and high grade endometrial stromal sarcoma.	UMLS:C1519849|NCIT:C40219|DOID:4227
MONDO:0002924	smooth muscle cancer	biolink:Disease	mondo	DOID:4230|UMLS:C1334620|NCIT:C6511		malignant neoplasm of smooth muscle|malignant smooth muscle tumor|malignant tumor of the smooth muscle|smooth muscle cancer|cancer of the smooth muscle|cancer of smooth muscle|malignant smooth muscle neoplasm|malignant tumor of smooth muscle|malignant neoplasm of the smooth muscle	http://purl.obolibrary.org/obo/MONDO_0002924	A malignant neoplasm arising from smooth muscle.	NCIT:C6511|UMLS:C1334620|DOID:4230
MONDO:0002925	obsolete extraosseous Ewing's sarcoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002925		
MONDO:0002926	clear cell sarcoma	biolink:Disease	mondo	DOID:4233|ONCOTREE:CCS|NCIT:C3745|SCTID:402561003|EFO:0008498|ICD9:171.9|ICDO:9044/3|UMLS:C0206651|MESH:D018227		clear cell sarcoma (morphologic abnormality)|clear cell sarcoma of soft tissue|clear cell sarcoma of soft parts|malignant melanoma of the soft parts|clear cell sarcoma - not kidney|melanoma, malignant, of soft parts|adult soft part clear cell sarcoma|chordoid sarcoma|malignant melanoma of soft tissues|clear cell sarcoma/malignant melanoma of soft parts (excluding clear cell sarcoma of the kidney)|malignant melanoma of soft parts	http://purl.obolibrary.org/obo/MONDO_0002926	A rare malignant neoplasm with melanocytic differentiation characterized by the presence of polygonal or spindle shaped clear cells. This sarcoma usually affects the tendons and aponeuroses and is associated with a poor prognosis due to recurrences and metastases.	MESH:D018227|SNOMEDCT:402561003|NCIT:C3745|DOID:4233|UMLS:C0206651
MONDO:0002941	anal margin carcinoma	biolink:Disease	mondo	NCIT:C7472|DOID:4284|UMLS:C0349534		carcinoma of anal margin|anal margin carcinoma|carcinoma of the anal margin|perianal skin carcinoma|carcinoma of perianal skin|anal margin cancer	http://purl.obolibrary.org/obo/MONDO_0002941	A carcinoma that arises from epithelial cells of the perianal skin	DOID:4284|NCIT:C7472|UMLS:C0349534
MONDO:0002942	sebaceous basal cell carcinoma	biolink:Disease	mondo	DOID:4286		skin basosebaceous basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002942		DOID:4286
MONDO:0002943	external ear basal cell carcinoma	biolink:Disease	mondo	UMLS:C1333491|DOID:4287|NCIT:C6082		external Ear basal cell carcinoma|basal cell carcinoma of external Ear|basal cell external ear carcinoma|basal cell carcinoma of the external Ear|skin basal cell carcinoma of external ear|basal cell carcinoma of the external ear|external ear skin basal cell carcinoma|basal cell carcinoma of external ear	http://purl.obolibrary.org/obo/MONDO_0002943	A basal cell carcinoma that arises from the skin of the external ear.	UMLS:C1333491|DOID:4287|NCIT:C6082
MONDO:0002944	external ear carcinoma	biolink:Disease	mondo	UMLS:C1333492|DOID:4288|NCIT:C6081		external Ear carcinoma|external ear carcinoma|carcinoma of external ear|carcinoma of external Ear|carcinoma of the external Ear|carcinoma of the external ear	http://purl.obolibrary.org/obo/MONDO_0002944	A carcinoma that arises from epithelial cells of the external ear	UMLS:C1333492|DOID:4288|NCIT:C6081
MONDO:0002940	anal margin basal cell carcinoma	biolink:Disease	mondo	UMLS:C1332269|ICD10:C44.510|DOID:4283|NCIT:C7473		basal cell carcinoma of perianal skin|perianal skin skin basal cell carcinoma|basal cell carcinoma of anal margin|basal cell carcinoma of the perianal skin|basal cell carcinoma of the anal margin|anal margin basal cell carcinoma|skin basal cell carcinoma of perianal skin|perianal skin basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002940	A basal cell carcinoma arising from the perianal skin. Local excision is the treatment of choice. Metastases are extremely rare.	UMLS:C1332269|DOID:4283|NCIT:C7473
MONDO:0014905	Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome	biolink:Disease	mondo	UMLS:C4310726|OMIM:617086|Orphanet:485421	ordo_malformation_syndrome	encephalopathy due to defective mitochondrial and peroxisomal fission type 2|EMPF2|encephalopathy due to defective mitochondrial and peroxisomal fission 2; EMPF2|encephalopathy due to defective mitochondrial and peroxisomal fission 2	http://purl.obolibrary.org/obo/MONDO_0014905		http://identifiers.org/omim/617086|ORPHA:485421|UMLS:C4310726
MONDO:0014904	congenital disorder of glycosylation, type IAA	biolink:Disease	mondo	UMLS:C4310727|DOID:0080553|OMIM:617082		congenital disorder of glycosylation, type IAA|congenital disorder of glycosylation, type IAA; CDG1AA|CDG1AA	http://purl.obolibrary.org/obo/MONDO_0014904		http://identifiers.org/omim/617082|UMLS:C4310727|DOID:0080553
CHEBI:26596	salicylates	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_26596	Any salt or ester arising from reaction of the carboxy group of salicylic acid, or any ester resulting from the condensation of the phenolic hydroxy group of salicylic acid with an organic acid.	
MONDO:0014903	seizures, benign familial infantile, 5	biolink:Disease	mondo	UMLS:C4310728|OMIM:617080		BFIS5|convulsions, benign familial infantile, 5|seizures, benign familial infantile, 5|benign familial infantile epilepsy caused by mutation in SCN8A|seizures, benign familial infantile, type 5|seizures, benign familial infantile, 5; BFIS5|SCN8A benign familial infantile epilepsy	http://purl.obolibrary.org/obo/MONDO_0014903	Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN8A gene.	UMLS:C4310728|http://identifiers.org/omim/617080
MONDO:0014902	nasopharyngeal carcinoma, susceptibility to, 3	biolink:Disease	mondo	OMIM:617075	predisposition	nasopharyngeal carcinoma caused by mutation in MST1R|susceptibility to nasopharyngeal carcinoma 3|nasopharyngeal carcinoma, susceptibility to, type 3|MST1R nasopharyngeal carcinoma|nasopharyngeal carcinoma, susceptibility to, 3; NPCA3|nasopharyngeal carcinoma, susceptibility to, 3|NPCA3	http://purl.obolibrary.org/obo/MONDO_0014902	Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the MST1R gene.	http://identifiers.org/omim/617075
MONDO:0014909	primary ciliary dyskinesia 34	biolink:Disease	mondo	OMIM:617091|DOID:0110610|UMLS:C4310722		primary ciliary dyskinesia 34 without situs inversus|ciliary dyskinesia, primary, 34; CILD34|ciliary dyskinesia, primary, 34|ciliary dyskinesia, primary, 34, without situs inversus|DNAJB13 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 34|primary ciliary dyskinesia caused by mutation in DNAJB13|CILD34|primary ciliary dyskinesia type 34	http://purl.obolibrary.org/obo/MONDO_0014909	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAJB13 gene.	http://identifiers.org/omim/617091|DOID:0110610|UMLS:C4310722
MONDO:0014908	microcephaly 17, primary, autosomal recessive	biolink:Disease	mondo	DOID:0070288|OMIM:617090|UMLS:C4310723		autosomal recessive primary microcephaly caused by mutation in CIT|autosomal recessive primary microcephaly caused by mutation in cit|microcephaly 17, primary, autosomal recessive|microcephaly 17, primary, autosomal recessive; MCPH17|MCPH17|CIT autosomal recessive primary microcephaly|cit autosomal recessive primary microcephaly	http://purl.obolibrary.org/obo/MONDO_0014908	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CIT gene.	http://identifiers.org/omim/617090|DOID:0070288|UMLS:C4310723
MONDO:0014907	short-rib thoracic dysplasia 15 with polydactyly	biolink:Disease	mondo	UMLS:C4310724|OMIM:617088		SRTD15|short-rib thoracic dysplasia 15 with polydactyly; SRTD15|short-rib thoracic dysplasia 15 with polydactyly	http://purl.obolibrary.org/obo/MONDO_0014907		http://identifiers.org/omim/617088|UMLS:C4310724
MONDO:0014906	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;	biolink:Disease	mondo	DOID:0111557|UMLS:C4310725|OMIM:617087|NCIT:C150647		CMT2A2B|Charcot-Marie-Tooth disease type 2A2B|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B; CMT2A2B|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	http://purl.obolibrary.org/obo/MONDO_0014906	An autosomal recessive sub-type of Charcot-Marie-Tooth disease caused by compound heterozygous or homozygous mutation(s) in the MFN2 gene, encoding mitofusin-2. This condition is more severe and has an earlier onset as compared to Charcot-Marie-Tooth disease type 2A2A.	DOID:0111557|http://identifiers.org/omim/617087|UMLS:C4310725|NCIT:C150647
HGNC:6444	KRT6B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6444		
HGNC:6447	KRT9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6447		
MONDO:0014912	infantile-onset periodic fever-panniculitis-dermatosis syndrome	biolink:Disease	mondo	GARD:0013198|SCTID:765435009|UMLS:C4310614|Orphanet:500062|OMIM:617099|DOID:0080163	ordo_disease|gard_rare	ORAS|otulin-related autoinflammatory syndrome|AUTOINFLAMMATION, panniculitis, and dermatosis syndrome; AIPDS|autoinflammation, panniculitis and dermatosis syndrome|Autoinflammation, panniculitis, and dermatosis syndrome|otulin deficiency|otulipenia|AIPDS	http://purl.obolibrary.org/obo/MONDO_0014912		SNOMEDCT:765435009|UMLS:C4310614|DOID:0080163|ORPHA:500062|http://identifiers.org/omim/617099
MONDO:0014911	growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy	biolink:Disease	mondo	OMIM:617093|EFO:0009155|UMLS:C4310720|Orphanet:541423	ordo_disease|clingen	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy|GRIDHH|growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy; GRIDHH	http://purl.obolibrary.org/obo/MONDO_0014911	A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss.	UMLS:C4310720|http://identifiers.org/omim/617093|ORPHA:541423
MONDO:0014910	primary ciliary dyskinesia 35	biolink:Disease	mondo	UMLS:C4310721|OMIM:617092|DOID:0110620		primary ciliary dyskinesia type 35|TTC25 primary ciliary dyskinesia|primary ciliary dyskinesia 35 with or without situs inversus|ciliary dyskinesia, primary, 35, with or without situs inversus|primary ciliary dyskinesia caused by mutation in TTC25|ciliary dyskinesia, primary, 35; CILD35|ciliary dyskinesia, primary, 35|CILD35|ciliary dyskinesia, primary, type 35	http://purl.obolibrary.org/obo/MONDO_0014910	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the TTC25 gene.	UMLS:C4310721|http://identifiers.org/omim/617092|DOID:0110620
MONDO:0002938	metatypical basal cell carcinoma	biolink:Disease	mondo	ICDO:8095/3|SCTID:254702000|DOID:4281|NCIT:C66903		basosquamous carcinoma of skin|skin metatypical basal cell carcinoma|skin metatypical carcinoma	http://purl.obolibrary.org/obo/MONDO_0002938	A skin carcinoma displaying cytological characteristics intermediate to nodular basal cell carcinoma and squamous cell carcinoma.	NCIT:C66903|SNOMEDCT:254702000|DOID:4281
MONDO:0002939	skin pigmented basal cell carcinoma	biolink:Disease	mondo	SCTID:403909004|UMLS:C1368275|DOID:4282|NCIT:C9359		pigmented basal cell carcinoma|skin pigmented basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002939	A basal cell carcinoma that contains large amounts of melanin. The melanin is produced by symbiotic nontumoral proliferating melanocytes. - 2002.	SNOMEDCT:403909004|NCIT:C9359|DOID:4282|UMLS:C1368275
MONDO:0002934	intravascular angioleiomyoma	biolink:Disease	mondo	NCIT:C5355|UMLS:C1334267|DOID:4266		intravascular angioleiomyoma|intravascular angiomyoma	http://purl.obolibrary.org/obo/MONDO_0002934	A morphologic variant of angioleiomyoma characterized by the adherence of neoplastic smooth muscle cells to the walls of vascular channels.	NCIT:C5355|UMLS:C1334267|DOID:4266
HGNC:6440	KRT3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6440		
HGNC:6441	KRT4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6441		
MONDO:0002935	penis basal cell carcinoma	biolink:Disease	mondo	UMLS:C1518949|NCIT:C39961|DOID:4277		penile basal cell carcinoma|skin of penis skin basal cell carcinoma|skin basal cell carcinoma of penis|penile basal cell cancer|basal cell carcinoma of the penis|penis skin basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002935	A basal cell carcinoma of the penis with an indolent clinical course. It is usually superficial and arises from the shaft and rarely the glans.	UMLS:C1518949|NCIT:C39961|DOID:4277
HGNC:6442	KRT5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6442		
MONDO:0002936	scrotum basal cell carcinoma	biolink:Disease	mondo	UMLS:C1335934|NCIT:C6386|DOID:4278		basal cell scrotal carcinoma|scrotum skin basal cell carcinoma|skin basal cell carcinoma of scrotum|basal cell carcinoma of the scrotum|scrotal basal cell carcinoma|basal cell carcinoma of scrotum	http://purl.obolibrary.org/obo/MONDO_0002936	A scrotal carcinoma that involves the basal cell.	UMLS:C1335934|DOID:4278|NCIT:C6386
HP:0011729	Abnormality of joint mobility	biolink:PhenotypicFeature	mondo	UMLS:C4023216			http://purl.obolibrary.org/obo/HP_0011729	An abnormality in the range and ease of motion of joints across their normal range.	
MONDO:0002937	nodular basal cell carcinoma	biolink:Disease	mondo	UMLS:C1304300|NCIT:C5568|DOID:4280|SCTID:403910009		skin solid (nodular) basal cell carcinoma|skin nodulo-ulcerative basal cell carcinoma|Nodulo-ulcerative basal cell carcinoma|circumscribed solid basal cell carcinoma|Rodent Ulcer|basal cell carcinoma, nodular (morphologic abnormality)|basal cell carcinoma, nodular	http://purl.obolibrary.org/obo/MONDO_0002937	A basal cell carcinoma of the skin that often appears as elevated nodules which may become ulcerated.	NCIT:C5568|UMLS:C1304300|SNOMEDCT:403910009|DOID:4280
HGNC:6443	KRT6A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6443		
MONDO:0002910	peroneal neuropathy	biolink:Disease	mondo	UMLS:C0747533|NCIT:C27596|MESH:D020427|DOID:4201		peroneal neuropathy	http://purl.obolibrary.org/obo/MONDO_0002910	Disease involving the common peroneal nerve or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with paralysis of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the fibula is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)	NCIT:C27596|MESH:D020427|DOID:4201|UMLS:C0747533
MONDO:0002911	brain stem glioma	biolink:Disease	mondo	NCIT:C8501|SCTID:444545003|UMLS:C0677865|DOID:4202		brainstem neuroglial tumor|brain stem neuroglial tumor|brainstem glioma|diffuse brainstem glioma|brain stem glioma|glioma of brain stem|malignant glioma of brainstem|glioma of the brain stem|brainstem malignant glioma|glioma of the brainstem|glioma of brainstem|brain stem neuroglial neoplasm|brainstem neuroglial neoplasm	http://purl.obolibrary.org/obo/MONDO_0002911	A neuroglial tumor that arises from the brain stem.	UMLS:C0677865|SNOMEDCT:444545003|DOID:4202|NCIT:C8501
GO:0099550	trans-synaptic signaling, modulating synaptic transmission	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0099550	Cell-cell signaling between presynapse and postsynapse, across the synaptic cleft, that modulates the synaptic transmission properties of the synapse.	
HGNC:6458	KRT81	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6458		
MONDO:0014901	tooth agenesis, selective, 8	biolink:Disease	mondo	UMLS:C4310730|OMIM:617073		tooth agenesis, selective, type 8|tooth agenesis, selective, 8; STHAG8|STHAG8|tooth agenesis, selective, 8|WNT10B tooth agenesis|tooth agenesis caused by mutation in WNT10B	http://purl.obolibrary.org/obo/MONDO_0014901	Any tooth agenesis in which the cause of the disease is a mutation in the WNT10B gene.	UMLS:C4310730|http://identifiers.org/omim/617073
MONDO:0002909	hyperglycemia	biolink:Disease	mondo	MESH:D006943|ICD10:R73.9|COHD:4214376|DOID:4195|UMLS:C0020456|ICD9:790.6|SCTID:80394007			http://purl.obolibrary.org/obo/MONDO_0002909	Abnormally high level of glucose in the blood.	DOID:4195|MESH:D006943|NCIT:C26797|UMLS:C0020456|SNOMEDCT:80394007
MONDO:0014900	autosomal recessive limb-girdle muscular dystrophy type 2Y	biolink:Disease	mondo	SCTID:725907002|DOID:0110289|ICD10:G71.0|UMLS:C4310731|OMIM:617072|Orphanet:424261	ordo_disease	LGMD2Y|muscular dystrophy, limb-girdle, type 2Y; LGMD2Y|muscular dystrophy, limb-girdle, type 2Y|autosomal recessive limb-girdle muscular dystrophy caused by mutation in TOR1AIP1|autosomal recessive muscular dystrophy due to LAP1B deficiency|autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency|muscular dystrophy with progressive weakness, distal contractures and rigid spine|TOR1AIP1 autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy, limb-girdle, type 2y	http://purl.obolibrary.org/obo/MONDO_0014900	Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.	SNOMEDCT:725907002|ORPHA:424261|UMLS:C4310731|http://identifiers.org/omim/617072|DOID:0110289
MONDO:0002905	mutism (disease)	biolink:Disease	mondo	DOID:4189|MESH:D009155|HP:0002300|UMLS:C0026884		mutism	http://purl.obolibrary.org/obo/MONDO_0002905	The inability to generate oral-verbal expression, despite normal comprehension of speech. This may be associated with brain diseases or mental disorders. Organic mutism may be associated with damage to the frontal lobe; brain stem; thalamus; and cerebellum. Selective mutism is a psychological condition that usually affects children characterized by continuous refusal to speak in social situations by a child who is able and willing to speak to selected persons. Kussmal aphasia refers to mutism in psychosis. (From Fortschr Neurol Psychiatr 1994; 62(9):337-44)	UMLS:C0026884|MESH:D009155|DOID:4189
MONDO:0002906	obsolete scleroderma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002906		
MONDO:0002907	intracranial thrombosis	biolink:Disease	mondo	SCTID:71444005|COHD:441874|UMLS:C0752143|MESH:D020767|DOID:4193|ICD9:434.00|ICD9:434.0		cerebral thrombosis	http://purl.obolibrary.org/obo/MONDO_0002907	Formation or presence of a blood clot (thrombus) in a blood vessel within the skull. Intracranial thrombosis can lead to thrombotic occlusions and brain infarction. The majority of the thrombotic occlusions are associated with atherosclerosis.	DOID:4193|SNOMEDCT:71444005|MESH:D020767|UMLS:C0752143
MONDO:0002908	glucose metabolism disease	biolink:Disease	mondo	MESH:D044882|SCTID:126877002|UMLS:C1257958|DOID:4194|ICD9:271.8|NCIT:C53655		glucose metabolism disorder|disorder of glucose metabolism	http://purl.obolibrary.org/obo/MONDO_0002908	A metabolic disorder characterized by abnormal blood glucose levels.	DOID:4194|SNOMEDCT:126877002|UMLS:C1257958|NCIT:C53655|MESH:D044882
MONDO:0002901	blood group incompatibility	biolink:Disease	mondo	CSP:0440-3703|DOID:4176|UMLS:C0005806			http://purl.obolibrary.org/obo/MONDO_0002901		UMLS:C0005806|DOID:4176
MONDO:0002902	obsolete pseudohypoparathyroidism	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002902		
MONDO:0002903	articulation disorder	biolink:Disease	mondo	COHD:4039744|MESH:D001184|ICD9:315.39|SCTID:386701004|NCIT:C92564|DOID:4186		articulation impairment|phonological disorder	http://purl.obolibrary.org/obo/MONDO_0002903	A disorder characterized by the failure to use developmentally expected speech sounds that are appropriate for the individual's age (i.e., the individual makes errors in sound production or use or omits sounds such as final consonants).	NCIT:C92564|SNOMEDCT:386701004|MESH:D001184|DOID:4186
MONDO:0002904	echolalia (disease)	biolink:Disease	mondo	DOID:4188|HP:0010529|MESH:D004454		echolalia	http://purl.obolibrary.org/obo/MONDO_0002904	A symptom of neurologic or psychiatric dysfunction in which the individual involuntarily and meaninglessly repeats a recently heard word, series of words, or a song.	NCIT:C97166|MESH:D004454|DOID:4188
MONDO:0002920	malignant ovarian Brenner tumor	biolink:Disease	mondo	NCIT:C4270|EFO:1000357|ICDO:9000/3|DOID:4217|UMLS:C0334495		malignant Brenner tumor of ovary|ovarian Brenner tumor, malignant|malignant ovarian Brenner tumor|malignant Brenner tumor of the ovary	http://purl.obolibrary.org/obo/MONDO_0002920	A malignant neoplasm that arises from the ovary and is characterized by the presence of an invasive malignant transitional cell component and nests of benign transitional cells in a fibrotic stroma. When the neoplasm is confined to the ovary, the prognosis is good.	NCIT:C4270|UMLS:C0334495|DOID:4217
MONDO:0002921	congenital structural myopathy	biolink:Disease	mondo	DOID:422|MESH:D020914|NCIT:C84648|UMLS:C0752282		centronuclear myopathy	http://purl.obolibrary.org/obo/MONDO_0002921	A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills.	NCIT:C84648|MESH:D020914|UMLS:C0752282|DOID:422
GO:0099565	chemical synaptic transmission, postsynaptic	biolink:OntologyClass	mondo			postsynaptic process involved in chemical synaptic transmission	http://purl.obolibrary.org/obo/GO_0099565	The part of synaptic transmission occurring in the post-synapse: a signal transduction pathway consisting of neurotransmitter receptor activation and its effects on postsynaptic membrane potential and the ionic composition of the postsynaptic cytosol.	
MONDO:0002922	pyoderma	biolink:Disease	mondo	MESH:D011711|ICD9:686.09|ICD9:686.00|UMLS:C0034212|COHD:133547|ICD10:L08.0|ICD9:686.0|DOID:4223|SCTID:70759006			http://purl.obolibrary.org/obo/MONDO_0002922	Any skin disease that is pyegenic.	UMLS:C0034212|DOID:4223|SNOMEDCT:70759006|MESH:D011711
HGNC:6469	KYNU	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6469		
HGNC:25070	ACD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25070		
MONDO:0002916	brainstem intraparenchymal clear cell meningioma	biolink:Disease	mondo	NCIT:C5295|DOID:4209|UMLS:C1332612		brain stem intraparenchymal clear cell meningioma|intraparenchymal clear cell meningioma of the brainstem|intraparenchymal clear cell meningioma of brainstem	http://purl.obolibrary.org/obo/MONDO_0002916	A morphologic variant of meningioma arising from the brain stem. It is characterized by the presence of clear glycogen-rich polygonal cells.	NCIT:C5295|DOID:4209|UMLS:C1332612
MONDO:0002917	disease of pilosebaceous unit	biolink:Disease	mondo	SCTID:201128002|UMLS:C0554472|MESH:D006201|ICD9:704.9|UMLS:C0018500|COHD:135033|DOID:421|NCIT:C34656|ICD9:704.8		pilosebaceous unit disease or disorder|hair/hair follicle diseases|disorder of pilosebaceous unit|disease of pilosebaceous unit|disorder of pilosebaceous unit|disease or disorder of pilosebaceous unit|hair and hair follicle diseases|pilosebaceous unit disease|hair disorder|hair disease	http://purl.obolibrary.org/obo/MONDO_0002917	A disease that involves the pilosebaceous unit.	MESH:D006201|UMLS:C0018500|SNOMEDCT:201128002|DOID:421|NCIT:C34656|UMLS:C0554472
MONDO:0002918	clear cell meningioma	biolink:Disease	mondo	ICDO:9538/1|NCIT:C4722|DOID:4210|UMLS:C0431121|EFO:1000180|ONCOTREE:CCM		CCM|clear cell meningioma (morphologic abnormality)|clear cell meningioma	http://purl.obolibrary.org/obo/MONDO_0002918	A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells.	UMLS:C0431121|NCIT:C4722|DOID:4210
HGNC:6460	KRT83	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6460		
MONDO:0002919	posterior cranial fossa meningioma	biolink:Disease	mondo	DOID:4211|NCIT:C6775|UMLS:C1335448		posterior cranial fossa meningioma (disease)|meningioma (disease) of posterior cranial fossa|meningioma of posterior cranial fossa|meningioma of the posterior cranial fossa	http://purl.obolibrary.org/obo/MONDO_0002919	A meningioma that affects the posterior cranial fossa.	NCIT:C6775|UMLS:C1335448|DOID:4211
MONDO:0002912	brainstem cancer	biolink:Disease	mondo	ICD9:191.7|SCTID:363473003|MESH:D020295|GARD:0008244|COHD:4180908|NCIT:C3570|ICD10:C71.7|DOID:4203	gard_rare	primary brain stem tumor|brain stem cancer|malignant neoplasm of the brainstem|malignant brainstem tumor|malignant brainstem neoplasm|malignant tumor of brain stem|malignant tumor of the brain stem|malignant neoplasm of brainstem|malignant tumor of the brainstem|neoplasm of adult brain stem|tumor of adult brainstem|tumor of the brainstem|brainstem cancer|malignant tumor of brainstem|primary brain stem neoplasm|malignant neoplasm of the brain stem|malignant brain stem neoplasm|malignant brain stem tumor|neoplasm of brain stem|malignant neoplasm of brain stem|cancer of brainstem	http://purl.obolibrary.org/obo/MONDO_0002912	A primary or metastatic malignant neoplasm that affects the brain stem.	SNOMEDCT:363473003|MESH:D020295|NCIT:C3570|DOID:4203
HGNC:6462	KRT85	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6462		
MONDO:0002913	cerebellar neoplasm	biolink:Disease	mondo	UMLS:C0007762|SCTID:126960003|ICD9:191.6|NCIT:C2935|DOID:4205|MESH:D002528|ICD10:C71.6		cerebellar cancer|malignant tumor of cerebellum|neoplasm of cerebellum|cerebellar tumor|cerebellum neoplasm|tumor of the cerebellum|cerebellum cancer|cerebellum tumor|tumor of cerebellum|cerebellum neoplasm (disease)|neoplasm of the cerebellum|cerebellar neoplasm	http://purl.obolibrary.org/obo/MONDO_0002913	A benign or malignant (primary or metastatic) tumor involving the cerebellum. -- 2003	UMLS:C0007762|SNOMEDCT:126960003|MESH:D002528|NCIT:C2935|DOID:4205
HGNC:6463	KRT86	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6463		
MONDO:0002914	childhood brain stem neoplasm	biolink:Disease	mondo	NCIT:C5969|EFO:1001767|UMLS:C1332951|DOID:4206		childhood brain stem neoplasm|childhood neoplasm of brain stem|childhood neoplasm of the brain stem|brainstem cancer of childhood|pediatric tumor of brain stem|childhood brain stem tumor|pediatric tumor of brainstem|pediatric tumor of the brain stem|pediatric brainstem neoplasm|pediatric tumor of the brainstem|childhood neoplasm of the brainstem|childhood neoplasm of brainstem|childhood brainstem cancer|childhood brainstem tumor|pediatric neoplasm of brain stem|brain stem neoplasm|pediatric brain stem tumor|pediatric neoplasm of the brain stem|pediatric brain stem neoplasm|childhood tumor of brain stem|childhood tumor of the brain stem|childhood brainstem neoplasm|childhood tumor of the brainstem|childhood tumor of brainstem|pediatric neoplasm of the brainstem|pediatric brainstem cancer|pediatric neoplasm of brainstem|pediatric brainstem cancer|pediatric brainstem tumor	http://purl.obolibrary.org/obo/MONDO_0002914	A neoplasm that affects the brain stem and occurs during childhood.	NCIT:C5969|DOID:4206|UMLS:C1332951
GO:0099568	cytoplasmic region	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0099568	Any (proper) part of the cytoplasm of a single cell of sufficient size to still be considered cytoplasm.	
MONDO:0002915	childhood infratentorial neoplasm	biolink:Disease	mondo	NCIT:C5802|UMLS:C1332973|DOID:4207		pediatric infratentorial neoplasm|childhood infratentorial neoplasm|pediatric infratentorial neoplasm|childhood infratentorial tumors|infratentorial neoplasm of childhood|childhood infratentorial tumor|childhood infratentorial neoplasms|pediatric infratentorial tumor	http://purl.obolibrary.org/obo/MONDO_0002915	A neoplasm that affects the infratentorial region of the brain and occurs during childhood.	NCIT:C5802|DOID:4207|UMLS:C1332973
GO:0002580	regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II	biolink:OntologyClass	mondo			regulation of peptide or polysaccharide antigen processing and presentation via MHC class II	http://purl.obolibrary.org/obo/GO_0002580	Any process that modulates the frequency, rate, or extent of antigen processing and presentation of antigen (peptide or polysaccharide) via MHC class II.	
GO:0002581	negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II	biolink:OntologyClass	mondo			negative regulation of peptide or polysaccharide antigen processing and presentation via MHC class II|down-regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|down regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|inhibition of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|downregulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II	http://purl.obolibrary.org/obo/GO_0002581	Any process that stops, prevents, or reduces the frequency, rate, or extent of antigen processing and presentation of antigen (peptide or polysaccharide) via MHC class II.	
GO:0002582	positive regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II	biolink:OntologyClass	mondo			up regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|activation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|stimulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|positive regulation of peptide or polysaccharide antigen processing and presentation via MHC class II|upregulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|up-regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II	http://purl.obolibrary.org/obo/GO_0002582	Any process that activates or increases the frequency, rate, or extent of antigen processing and presentation of antigen (peptide or polysaccharide) via MHC class II.	
HGNC:13187	ZP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13187		
SO:0000946	integration_excision_site	biolink:SequenceFeature	mondo			attachment site|integration excision site	http://purl.obolibrary.org/obo/SO_0000946	A region specifically recognised by a recombinase, which inserts or removes another region marked by a distinct cognate integration/excision site.	
GO:0002562	somatic diversification of immune receptors via germline recombination within a single locus	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002562	The process in which immune receptor genes are diversified through recombination of the germline genetic elements within a single genetic locus.	
HGNC:13164	CNBP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13164		
GO:0002577	regulation of antigen processing and presentation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002577	Any process that modulates the frequency, rate, or extent of antigen processing and presentation.	
GO:0002578	negative regulation of antigen processing and presentation	biolink:OntologyClass	mondo			down-regulation of antigen processing and presentation|down regulation of antigen processing and presentation|inhibition of antigen processing and presentation|downregulation of antigen processing and presentation	http://purl.obolibrary.org/obo/GO_0002578	Any process that stops, prevents, or reduces the frequency, rate, or extent of antigen processing and presentation.	
GO:0002579	positive regulation of antigen processing and presentation	biolink:OntologyClass	mondo			stimulation of antigen processing and presentation|upregulation of antigen processing and presentation|up-regulation of antigen processing and presentation|up regulation of antigen processing and presentation|activation of antigen processing and presentation	http://purl.obolibrary.org/obo/GO_0002579	Any process that activates or increases the frequency, rate, or extent of antigen processing and presentation.	
GO:0002573	myeloid leukocyte differentiation	biolink:OntologyClass	mondo			myeloid leucocyte differentiation	http://purl.obolibrary.org/obo/GO_0002573	The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte lineage.	
GO:0002574	thrombocyte differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002574	The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a thrombocyte, a nucleated cell found in all vertebrates but mammals involved in hemostasis.	
HGNC:25151	ADAT3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25151		
HGNC:25155	HOGA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25155		
GO:1905951	mitochondrion DNA recombination	biolink:OntologyClass	mondo			DNA recombination in mitochondria	http://purl.obolibrary.org/obo/GO_1905951	Any DNA recombination that takes place in mitochondrion.	
GO:1905952	regulation of lipid localization	biolink:OntologyClass	mondo			regulation of lipid localisation	http://purl.obolibrary.org/obo/GO_1905952	Any process that modulates the frequency, rate or extent of lipid localization.	
GO:1905953	negative regulation of lipid localization	biolink:OntologyClass	mondo			down-regulation of lipid localization|downregulation of lipid localisation|down regulation of lipid localisation|inhibition of lipid localisation|negative regulation of lipid localisation|downregulation of lipid localization|down-regulation of lipid localisation|down regulation of lipid localization|inhibition of lipid localization	http://purl.obolibrary.org/obo/GO_1905953	Any process that stops, prevents or reduces the frequency, rate or extent of lipid localization.	
GO:1905954	positive regulation of lipid localization	biolink:OntologyClass	mondo			up regulation of lipid localisation|upregulation of lipid localization|up-regulation of lipid localisation|activation of lipid localisation|up regulation of lipid localization|up-regulation of lipid localization|upregulation of lipid localisation|activation of lipid localization|positive regulation of lipid localisation	http://purl.obolibrary.org/obo/GO_1905954	Any process that activates or increases the frequency, rate or extent of lipid localization.	
HGNC:13176	IKZF1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13176		
GO:1903304	positive regulation of pyruvate kinase activity	biolink:OntologyClass	mondo			up-regulation of phosphoenol transphosphorylase activity|up-regulation of pyruvate kinase activity|positive regulation of ATP:pyruvate 2-O-phosphotransferase activity|activation of pyruvate kinase activity|upregulation of phosphoenolpyruvate kinase activity|up regulation of phosphoenol transphosphorylase activity|up regulation of ATP:pyruvate 2-O-phosphotransferase activity|activation of phosphoenol transphosphorylase activity|positive regulation of phosphoenol transphosphorylase activity|up-regulation of ATP:pyruvate 2-O-phosphotransferase activity|upregulation of pyruvate kinase activity|activation of ATP:pyruvate 2-O-phosphotransferase activity|upregulation of phosphoenol transphosphorylase activity|up-regulation of phosphoenolpyruvate kinase activity|up regulation of phosphoenolpyruvate kinase activity|upregulation of ATP:pyruvate 2-O-phosphotransferase activity|up regulation of pyruvate kinase activity|positive regulation of phosphoenolpyruvate kinase activity|activation of phosphoenolpyruvate kinase activity	http://purl.obolibrary.org/obo/GO_1903304	Any process that activates or increases the frequency, rate or extent of pyruvate kinase activity.	
GO:1903303	negative regulation of pyruvate kinase activity	biolink:OntologyClass	mondo			downregulation of phosphoenol transphosphorylase activity|downregulation of pyruvate kinase activity|negative regulation of phosphoenolpyruvate kinase activity|down-regulation of phosphoenolpyruvate kinase activity|down regulation of pyruvate kinase activity|inhibition of pyruvate kinase activity|down regulation of phosphoenolpyruvate kinase activity|downregulation of ATP:pyruvate 2-O-phosphotransferase activity|down-regulation of pyruvate kinase activity|negative regulation of phosphoenol transphosphorylase activity|down-regulation of phosphoenol transphosphorylase activity|inhibition of phosphoenolpyruvate kinase activity|downregulation of phosphoenolpyruvate kinase activity|down regulation of ATP:pyruvate 2-O-phosphotransferase activity|inhibition of ATP:pyruvate 2-O-phosphotransferase activity|down regulation of phosphoenol transphosphorylase activity|negative regulation of ATP:pyruvate 2-O-phosphotransferase activity|down-regulation of ATP:pyruvate 2-O-phosphotransferase activity|inhibition of phosphoenol transphosphorylase activity	http://purl.obolibrary.org/obo/GO_1903303	Any process that stops, prevents or reduces the frequency, rate or extent of pyruvate kinase activity.	
GO:1903302	regulation of pyruvate kinase activity	biolink:OntologyClass	mondo			regulation of phosphoenolpyruvate kinase activity|regulation of ATP:pyruvate 2-O-phosphotransferase activity|regulation of phosphoenol transphosphorylase activity	http://purl.obolibrary.org/obo/GO_1903302	Any process that modulates the frequency, rate or extent of pyruvate kinase activity.	
HP:0033095	Increased sulfur amino acid level in urine	biolink:PhenotypicFeature	mondo			An elevated level of a sulfur-containing amino acid in the urine.|Increased sulfur-containing amino acid level in urine|Increased sulphur amino acid level in urine	http://purl.obolibrary.org/obo/HP_0033095		
ENVO:01001835	alpine biome	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001835	A biome which is subject to alpine altitudinal conditions.	
GO:1903319	positive regulation of protein maturation	biolink:OntologyClass	mondo			up-regulation of protein maturation|activation of protein maturation|upregulation of protein maturation|up regulation of protein maturation	http://purl.obolibrary.org/obo/GO_1903319	Any process that activates or increases the frequency, rate or extent of protein maturation.	
GO:1903318	negative regulation of protein maturation	biolink:OntologyClass	mondo			downregulation of protein maturation|down regulation of protein maturation|inhibition of protein maturation|down-regulation of protein maturation	http://purl.obolibrary.org/obo/GO_1903318	Any process that stops, prevents or reduces the frequency, rate or extent of protein maturation.	
GO:1903317	regulation of protein maturation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1903317	Any process that modulates the frequency, rate or extent of protein maturation.	
GO:1903316	positive regulation of nitrogen cycle metabolic process	biolink:OntologyClass	mondo			up-regulation of nitrogen cycle metabolic process|activation of nitrogen cycle metabolic process|upregulation of nitrogen cycle metabolic process|up regulation of nitrogen cycle metabolic process	http://purl.obolibrary.org/obo/GO_1903316	Any process that activates or increases the frequency, rate or extent of nitrogen cycle metabolic process.	
GO:1903315	negative regulation of nitrogen cycle metabolic process	biolink:OntologyClass	mondo			downregulation of nitrogen cycle metabolic process|down regulation of nitrogen cycle metabolic process|inhibition of nitrogen cycle metabolic process|down-regulation of nitrogen cycle metabolic process	http://purl.obolibrary.org/obo/GO_1903315	Any process that stops, prevents or reduces the frequency, rate or extent of nitrogen cycle metabolic process.	
GO:1903314	regulation of nitrogen cycle metabolic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1903314	Any process that modulates the frequency, rate or extent of nitrogen cycle metabolic process.	
HGNC:25135	LRSAM1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25135		
ENVO:01001836	montane biome	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001836	A biome which is subject to montane altitudinal conditions.	
ENVO:01001838	arid biome	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001838	A biome which is subject to arid environmental conditions.	
HGNC:25133	MARS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25133		
HGNC:13156	ZNF81	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13156		
GO:0051560	mitochondrial calcium ion homeostasis	biolink:OntologyClass	mondo			mitochondrial calcium ion concentration regulation|calcium ion homeostasis in mitochondria|regulation of calcium ion concentration in mitochondria|regulation of mitochondrial calcium ion concentration|regulation of calcium ion concentration in mitochondrion|calcium ion homeostasis in mitochondrion	http://purl.obolibrary.org/obo/GO_0051560	Any process involved in the maintenance of an internal steady state of calcium ions within the cytoplasm of a cell or between mitochondria and their surroundings.	
GO:0099503	secretory vesicle	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0099503	A cytoplasmic, membrane bound vesicle that is capable of fusing to the plasma membrane to release its contents into the extracellular space.	
GO:0002522	leukocyte migration involved in immune response	biolink:OntologyClass	mondo			leukocyte trafficking during immune response|immune cell migration during immune response|leucocyte migration during immune response|leucocyte trafficking during immune response|immune cell trafficking during immune response	http://purl.obolibrary.org/obo/GO_0002522	The movement of a leukocyte within or between different tissues and organs of the body as part of an immune response.	
GO:0002523	leukocyte migration involved in inflammatory response	biolink:OntologyClass	mondo			leukocyte trafficking during inflammatory response|immune cell migration during inflammatory response|leucocyte migration during inflammatory response|leucocyte trafficking during inflammatory response|immune cell trafficking during inflammatory response|leukocyte migration during inflammatory response	http://purl.obolibrary.org/obo/GO_0002523	The movement of a leukocyte within or between different tissues and organs of the body contributing to an inflammatory response.	
ENVO:01001865	concentration of carbon dioxide in an atmosphere	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001865	The concentration of carbon dioxide when measured in air that is part of an atmosphere.	
GO:0002524	hypersensitivity	biolink:OntologyClass	mondo			hypersensitivity response	http://purl.obolibrary.org/obo/GO_0002524	An inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system.	
ENVO:01001862	Solar radiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001862	Stellar radiation emitted from Sol.	
GO:0002520	immune system development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002520	The process whose specific outcome is the progression of an organismal system whose objective is to provide calibrated responses by an organism to a potential internal or invasive threat, over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process.	
GO:0002521	leukocyte differentiation	biolink:OntologyClass	mondo			leucocyte differentiation|immune cell differentiation	http://purl.obolibrary.org/obo/GO_0002521	The process in which a relatively unspecialized hemopoietic precursor cell acquires the specialized features of a leukocyte. A leukocyte is an achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue.	
HP:0045084	Limb myoclonus	biolink:PhenotypicFeature	mondo			Myoclonus of limbs	http://purl.obolibrary.org/obo/HP_0045084		
HGNC:13128	ZNF711	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13128		
GO:0002526	acute inflammatory response	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002526	Inflammation which comprises a rapid, short-lived, relatively uniform response to acute injury or antigenic challenge and is characterized by accumulations of fluid, plasma proteins, and granulocytic leukocytes. An acute inflammatory response occurs within a matter of minutes or hours, and either resolves within a few days or becomes a chronic inflammatory response.	
GO:0051588	regulation of neurotransmitter transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0051588	Any process that modulates the frequency, rate or extent of the directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
HGNC:25118	OTULIN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25118		
GO:0051589	negative regulation of neurotransmitter transport	biolink:OntologyClass	mondo			inhibition of neurotransmitter transport|down-regulation of neurotransmitter transport|downregulation of neurotransmitter transport|down regulation of neurotransmitter transport	http://purl.obolibrary.org/obo/GO_0051589	Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
GO:0002534	cytokine production involved in inflammatory response	biolink:OntologyClass	mondo			cytokine production involved in acute inflammatory response	http://purl.obolibrary.org/obo/GO_0002534	The synthesis or release of a cytokine following a inflammatory stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels.	
ENVO:01001856	liquid accumulation process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001856	A material accumulation process during which the volume of liquid entity increases.	
ENVO:01001852	energy transfer process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001852	A process during which one entity loses energy to another entity.	
GO:0002532	production of molecular mediator involved in inflammatory response	biolink:OntologyClass	mondo			production of molecular mediator involved in acute inflammatory response|production of cellular mediator of acute inflammation	http://purl.obolibrary.org/obo/GO_0002532	The synthesis or release of any molecular mediator of the inflammatory response following an inflammatory stimulus, resulting in an increase in its intracellular or extracellular levels.	
GO:1903337	positive regulation of vacuolar transport	biolink:OntologyClass	mondo			upregulation of vacuolar transport|up regulation of vacuolar transport|activation of vacuolar transport|up-regulation of vacuolar transport	http://purl.obolibrary.org/obo/GO_1903337	Any process that activates or increases the frequency, rate or extent of vacuolar transport.	
GO:1903336	negative regulation of vacuolar transport	biolink:OntologyClass	mondo			down regulation of vacuolar transport|inhibition of vacuolar transport|down-regulation of vacuolar transport|downregulation of vacuolar transport	http://purl.obolibrary.org/obo/GO_1903336	Any process that stops, prevents or reduces the frequency, rate or extent of vacuolar transport.	
GO:1903335	regulation of vacuolar transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1903335	Any process that modulates the frequency, rate or extent of vacuolar transport.	
NCBITaxon:422676	Aconoidasida	organism taxon	mondo	GC_ID:1		Hematozoa Vivier 1982	http://purl.obolibrary.org/obo/NCBITaxon_422676		
GO:0002538	arachidonic acid metabolite production involved in inflammatory response	biolink:OntologyClass	mondo			arachidonic acid metabolite production involved in acute inflammatory response|production of arachidonic acid metabolites involved in acute inflammatory response|production of arachidonic acid metabolites involved in inflammatory response	http://purl.obolibrary.org/obo/GO_0002538	The synthesis or release of products of arachidonic acid metabolism following a stimulus as part of an inflammatory response, resulting in an increase in their intracellular or extracellular levels.	
GO:0002539	prostaglandin production involved in inflammatory response	biolink:OntologyClass	mondo			prostaglandin production involved in acute inflammatory response	http://purl.obolibrary.org/obo/GO_0002539	The synthesis or release of any prostaglandin following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels.	
MONDO:0000399	obsolete dyskinetic cerebral palsy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000399		
NCBITaxon:38820	Poales	organism taxon	mondo	GC_ID:1|PMID:26350789			http://purl.obolibrary.org/obo/NCBITaxon_38820		
MONDO:0000398	obsolete female breast cancer	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000398		
MONDO:0000397	ataxic cerebral palsy	biolink:Disease	mondo	NCIT:C97168|SCTID:278512001|UMLS:C0394005|ICD9:343.8|DOID:0050670		hypotonic cerebral palsy	http://purl.obolibrary.org/obo/MONDO_0000397	A form of cerebral palsy caused by damage to cerebellar structures.	DOID:0050670|SNOMEDCT:278512001|UMLS:C0394005|NCIT:C97168
MONDO:0000396	spastic cerebral palsy	biolink:Disease	mondo	DOID:0050669|ICD9:344.89|SCTID:230773005|UMLS:C0338596|NCIT:C116903		hypertonic cerebral palsy	http://purl.obolibrary.org/obo/MONDO_0000396	A form of cerebral palsy wherein spasticity is the exclusive impairment present.	SNOMEDCT:230773005|DOID:0050669|UMLS:C0338596|NCIT:C116903
MONDO:0000391	obsolete Bethlem myopathy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000391		
MONDO:0000390	vitelliform macular dystrophy	biolink:Disease	mondo	NCIT:C118788|ICD10:H35.5|SCTID:90036004|DOID:0050661|MESH:D057826|OMIMPS:153840|UMLS:C0339510		macular dystrophy, vitelliform|vitelliform macular dystrophy	http://purl.obolibrary.org/obo/MONDO_0000390	A rare genetic disorder characterized by macular degeneration in the retina resulting in progressive loss of central vision with retention of the peripheral vision.	NCIT:C118788|UMLS:C0339510|DOID:0050661|SNOMEDCT:90036004|MESH:D057826
MONDO:0024360	central sleep apnea caused by high altitude	biolink:Disease	mondo	UMLS:C4075997|SCTID:91441000119109		central sleep apnea caused by high altitude|central sleep apnea due to high altitude	http://purl.obolibrary.org/obo/MONDO_0024360		UMLS:C4075997|SNOMEDCT:91441000119109
MONDO:0000395	alcohol-related birth defect	biolink:Disease	mondo	NCIT:C92727|DOID:0050668|UMLS:C3146244		alcohol related birth defect|ARBD	http://purl.obolibrary.org/obo/MONDO_0000395	A physical or cognitive mental abnormality caused by maternal alcohol consumption and its toxic effect on the developing embryo during pregnancy.	UMLS:C3146244|NCIT:C92727|DOID:0050668
MONDO:0024361	circadian rhythm sleep disorder	biolink:Disease	mondo	NCIT:C95071|ICD9:327.30|SCTID:3745000|ICD10:G47.2		sleep-wake schedule disorder|disorders of the sleep-wake schedule|circadian sleep disorder	http://purl.obolibrary.org/obo/MONDO_0024361	A persistent or recurrent pattern of sleep disruption that is primarily due to an alteration of the circadian system or to a misalignment between the endogenous circadian rhythm and the sleep-wake schedule required by an individual's physical environment or social or professional schedule.(DSM IV)	NCIT:C95071|SNOMEDCT:3745000
MONDO:0000394	obsolete alcohol-related neurodevelopmental disorder	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000394		
MONDO:0000393	partial fetal alcohol syndrome	biolink:Disease	mondo	UMLS:C3661483|DOID:0050666			http://purl.obolibrary.org/obo/MONDO_0000393	A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure.	DOID:0050666|UMLS:C3661483
MONDO:0024363	rapid eye movement sleep disorder	biolink:Disease	mondo	ICD9:379.59|SCTID:192004002		repeated rapid eye movement sleep interruptions	http://purl.obolibrary.org/obo/MONDO_0024363		SNOMEDCT:192004002
MONDO:0000392	obsolete fetal alcohol syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000392		
MONDO:0012388	MYP11	biolink:Disease	mondo	MESH:C566490|UMLS:C1864941|OMIM:609994		myopia 11, autosomal dominant; MYP11|myopia 11, autosomal dominant|MYP11	http://purl.obolibrary.org/obo/MONDO_0012388		UMLS:C1864941|http://identifiers.org/omim/609994|MESH:C566490
MONDO:0012389	MYP12	biolink:Disease	mondo	UMLS:C1864940|MESH:C566489|OMIM:609995		myopia 12, autosomal dominant|myopia 12, autosomal dominant; MYP12|MYP12	http://purl.obolibrary.org/obo/MONDO_0012389		UMLS:C1864940|http://identifiers.org/omim/609995|MESH:C566489
MONDO:0012386	trichoscyphodysplasia	biolink:Disease	mondo	OMIM:609990|MESH:C536557|UMLS:C1864943|GARD:0009861	gard_rare	metaphyseal chondrodysplasia with ectodermal dysplasia|Trichoscyphodysplasia|metaphyseal chondrodysplasia with cone-Shaped epiphyses and alopecia|cupped metaphyses and cone-Shaped epiphyses with alopecia	http://purl.obolibrary.org/obo/MONDO_0012386		UMLS:C1864943|http://identifiers.org/omim/609990|MESH:C536557
MONDO:0012387	osteosclerosis-ichthyosis-premature ovarian failure syndrome	biolink:Disease	mondo	Orphanet:75325|GARD:0009904|MESH:C536064|OMIM:609993|SCTID:722114007	ordo_disease	osteosclerosis with ichthyosis and POF|sclerosing dysplasia of bone with ichthyosis and premature ovarian failure|sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome|osteosclerosis with ichthyosis and premature ovarian failure	http://purl.obolibrary.org/obo/MONDO_0012387	This syndrome is characterised by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals.	ORPHA:75325|UMLS:C1864942|http://identifiers.org/omim/609993|MESH:C536064|SNOMEDCT:722114007
HGNC:15766	ADNP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15766		
MONDO:0012380	autosomal dominant nonsyndromic deafness 53	biolink:Disease	mondo	UMLS:C1864957|ICD10:H90.3|OMIM:609965|GARD:0009934|DOID:0110579|MESH:C566495		autosomal dominant deafness 53|deafness, autosomal dominant 53|deafness, autosomal dominant 53; DFNA53|deafness, autosomal dominant nonsyndromic sensorineural 53|autosomal dominant nonsyndromic deafness type 53|DFNA53	http://purl.obolibrary.org/obo/MONDO_0012380	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 14q11.2-q12.	http://identifiers.org/omim/609965|MESH:C566495|DOID:0110579|UMLS:C1864957
MONDO:0012381	hyperinsulinism due to INSR deficiency	biolink:Disease	mondo	OMIM:609968|Orphanet:263458|DOID:0070220|MESH:C566494|UMLS:C1864952|ICD10:E16.1|SCTID:721235003	ordo_disease	hyperinsulinemic hypoglycemia, familial, 5|hyperinsulinemic hypoglycemia, familial, 5; HHF5|hyperinsulinemic hypoglycemia due to insulin receptor deficiency|hyperinsulinemic hypoglycemia, familial, type 5|HHF5|hyperinsulinemic hypoglycemia due to INSR deficiency	http://purl.obolibrary.org/obo/MONDO_0012381	Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.	http://identifiers.org/omim/609968|MESH:C566494|SNOMEDCT:721235003|ORPHA:263458|DOID:0070220|UMLS:C1864952
HGNC:15761	OSBPL2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15761		
MONDO:0012384	panic disorder 3	biolink:Disease	mondo	UMLS:C1864946|OMIM:609985		panic disorder 3|panic disorder susceptibility locus, chromosome 4Q-related|panic disorder type 3|Pand3	http://purl.obolibrary.org/obo/MONDO_0012384		http://identifiers.org/omim/609985|UMLS:C1864946
MONDO:0012385	metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands	biolink:Disease	mondo	UMLS:C1864944|OMIM:609989|GARD:0009942|MESH:C537354	gard_rare	cupped metaphyses and cone-Shaped epiphyses without alopecia or brachydactyly|metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands	http://purl.obolibrary.org/obo/MONDO_0012385		http://identifiers.org/omim/609989|MESH:C537354|UMLS:C1864944
MONDO:0012382	hyperinsulinemic hypoglycemia, familial, 4	biolink:Disease	mondo	DOID:0070215|SCTID:721236002|UMLS:C4303473|OMIM:609975|MESH:C566493|UMLS:C1864948		hyperinsulinemic hypoglycemia due to HADH deficiency|hyperinsulinemic hypoglycemia (disease) caused by mutation in HADH|HADH hyperinsulinemic hypoglycemia (disease)|hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency|HHF4|hyperinsulinemic hypoglycemia, familial, 4; HHF4|hyperinsulinemic hypoglycemia, familial, 4|hyperinsulinemic hypoglycemia, familial, type 4|hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0012382	Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the HADH gene.	http://identifiers.org/omim/609975|MESH:C566493|UMLS:C4303473|SNOMEDCT:721236002|DOID:0070215|UMLS:C1864948
MONDO:0012383	primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	biolink:Disease	mondo	NCIT:C123729|SCTID:724275005|Orphanet:75391|UMLS:C1864947|OMIM:609981|MESH:C566492|ICD10:D84.8	ordo_disease	natural KILLER cell and glucocorticoid deficiency with DNA repair defect|immunodeficiency 54; IMD54|mini-chromosome maintenance 4|natural KILLER cell and glucocorticoid deficiency with DNA repair defect; NKGCD|natural Killer cell deficiency, familial isolated|IMD54|immunodeficiency 54|NKGCD|primary immunodeficiency due to MCM4 deficiency	http://purl.obolibrary.org/obo/MONDO_0012383	The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterised by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localised to within a 12-Mb region on chromosome 8p11.23-q11.21.	SNOMEDCT:724275005|http://identifiers.org/omim/609981|MESH:C566492|UMLS:C1864947|NCIT:C123729|ORPHA:75391
MONDO:0024355	respiratory tract infectious disease	biolink:Disease	mondo	ICD9:519.8|MESH:D012141|SCTID:275498002		upper respiratory infections|infections, upper respiratory tract|respiratory infection, upper|upper respiratory tract infections|infections, respiratory tract|infections, upper respiratory|infection, respiratory tract|infections, respiratory|respiratory infections|respiratory tract infection	http://purl.obolibrary.org/obo/MONDO_0024355	Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases.	MESH:D012141|SNOMEDCT:275498002
MONDO:0024354	cytomegalovirus pneumonia	biolink:Disease	mondo	SCTID:7678002|UMLS:C0276253|NCIT:C35360		CMV pneumonia|Cytomegalovirus pneumonia|cytomegalovirus pneumonia|Cytomegaloviral pneumonia|Cytomegalovirus caused pneumonia	http://purl.obolibrary.org/obo/MONDO_0024354	Pneumonia caused by cytomegalovirus. Most humans are exposed to cytomegalovirus. Healthy individuals do not develop signs and symptoms of infection. Patients with weakened immune system (e.g., AIDS patients, cancer patients who are being treated with chemotherapy, and patients who have received bone marrow or solid organ transplants) develop signs and symptoms of infection. They include cough, shortness of breath, fatigue, malaise, fever, muscle and joint pain, and excessive sweating.	NCIT:C35360|SNOMEDCT:7678002|UMLS:C0276253
MONDO:0024357	drug induced central sleep apnea	biolink:Disease	mondo	UMLS:C3662033|SCTID:104831000119109		drug induced central sleep apnea	http://purl.obolibrary.org/obo/MONDO_0024357		SNOMEDCT:104831000119109|UMLS:C3662033
MONDO:0024356	primary central sleep apnea syndrome	biolink:Disease	mondo	UMLS:C0751762|ICD9:327.21|SCTID:9741000119101|ICD10:G47.31		primary central sleep apnea	http://purl.obolibrary.org/obo/MONDO_0024356		SNOMEDCT:9741000119101|UMLS:C0751762
MONDO:0024359	central sleep apnea due to periodic breathing	biolink:Disease	mondo	SCTID:85721000119105|ICD9:786.09|UMLS:C3662057|ICD9:327.27		central sleep apnea due to periodic breathing	http://purl.obolibrary.org/obo/MONDO_0024359		SNOMEDCT:85721000119105|UMLS:C3662057
MONDO:0024358	complex sleep apnea	biolink:Disease	mondo	SCTID:230493001|DOID:0080302		complex sleep apnea|mixed sleep apnea|CompSAS	http://purl.obolibrary.org/obo/MONDO_0024358	A distinct form of sleep-disordered breathing characterized as central sleep apnea (CSA), and presents in obstructive sleep apnea (OSA) patients during initial treatment with a continuous positive airway pressure (CPAP) device.	SNOMEDCT:230493001|DOID:0080302
MONDO:0024351	familial pityriasis rubra pilaris	biolink:Disease	mondo	UMLS:C2930842|MESH:C531784		Pityriasis rubra pilaris--familial type|hereditary pityriasis rubra pilaris	http://purl.obolibrary.org/obo/MONDO_0024351	An instance of pityriasis rubra pilaris that is caused by an inherited modification of the individual's genome.	UMLS:C2930842|MESH:C531784
MONDO:0024350	pityriasis steatoides	biolink:Disease	mondo	UMLS:C1274781|SCTID:403426003|ICD9:696.5		pityriasis steatoides	http://purl.obolibrary.org/obo/MONDO_0024350		UMLS:C1274781|SNOMEDCT:403426003
MONDO:0024352	viral respiratory tract infection	biolink:Disease	mondo	ICD9:519.8|NCIT:C27219|SCTID:312133006		viral respiratory tract infection	http://purl.obolibrary.org/obo/MONDO_0024352	A respiratory tract infection caused by a virus. Viruses represent the most common causes of upper and lower respiratory tract infections and include rhinoviruses, influenza viruses, parainfluenza viruses, and respiratory syncytial virus.	SNOMEDCT:312133006|NCIT:C27219
MONDO:0012377	ASPG4	biolink:Disease	mondo	OMIM:609954	predisposition	ASPERGER syndrome, susceptibility to, 4; ASPG4|ASPERGER syndrome, susceptibility to, 4|ASPG4	http://purl.obolibrary.org/obo/MONDO_0012377		http://identifiers.org/omim/609954
MONDO:0012378	GINGF3	biolink:Disease	mondo	MESH:C537928|GARD:0009911|OMIM:609955		fibromatosis, gingival, hereditary, 3|GGF3|HGF3|hereditary gingival fibromatosis, 3|GINGF3|fibromatosis, gingival, 3; GINGF3|fibromatosis gingival, hereditary, 3|gingival fibromatosis, 3|fibromatosis, gingival, 3	http://purl.obolibrary.org/obo/MONDO_0012378		http://identifiers.org/omim/609955|MESH:C537928
MONDO:0012375	autosomal recessive nonsyndromic deafness 47	biolink:Disease	mondo	OMIM:609946|ICD10:H90.3|DOID:0110504|GARD:0009935|MESH:C566498|UMLS:C1864964		deafness, neurosensory, autosomal recessive 47|autosomal recessive deafness 47|DFNB47|deafness, autosomal recessive 47; DFNB47|autosomal recessive nonsyndromic deafness type 47|deafness, autosomal recessive 47	http://purl.obolibrary.org/obo/MONDO_0012375	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2p25.1-p24.3.	UMLS:C1864964|http://identifiers.org/omim/609946|MESH:C566498|DOID:0110504
MONDO:0012376	autosomal recessive nonsyndromic deafness 55	biolink:Disease	mondo	ICD10:H90.3|GARD:0009919|MESH:C538203|DOID:0110510|OMIM:609952		autosomal recessive deafness 55|autosomal recessive nonsyndromic deafness type 55|DFNB55|deafness, autosomal recessive 55; DFNB55|deafness, autosomal recessive 55	http://purl.obolibrary.org/obo/MONDO_0012376	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.2.	MESH:C538203|http://identifiers.org/omim/609952|DOID:0110510
MONDO:0012379	asthma-related traits, susceptibility to, 3	biolink:Disease	mondo	OMIM:609958	predisposition	ASRT3|asthma-related traits, susceptibility to, type 3|asthma-related traits, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0012379		http://identifiers.org/omim/609958
MONDO:0012370	autosomal recessive nonsyndromic deafness 51	biolink:Disease	mondo	DOID:0110508|GARD:0009918|OMIM:609941|ICD10:H90.3|MESH:C538202		deafness, autosomal recessive 51|autosomal recessive nonsyndromic deafness type 51|autosomal recessive deafness 51|deafness, autosomal recessive 51; DFNB51|DFNB51	http://purl.obolibrary.org/obo/MONDO_0012370	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11p13-p12.	MESH:C538202|http://identifiers.org/omim/609941|DOID:0110508
MONDO:0012373	ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features	biolink:Disease	mondo	MESH:C536182|GARD:0009939|UMLS:C1864966|OMIM:609944	gard_rare	ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features	http://purl.obolibrary.org/obo/MONDO_0012373		UMLS:C1864966|http://identifiers.org/omim/609944|MESH:C536182
MONDO:0012374	brachyphalangy, polydactyly, and tibial aplasia/hypoplasia	biolink:Disease	mondo	GARD:0009893|OMIM:609945|UMLS:C1864965|MESH:C537100	gard_rare	brachyphalangy, polydactyly, and tibial aplasia/hypoplasia|brachyphalangy, polydactyly and absent tibiae	http://purl.obolibrary.org/obo/MONDO_0012374		UMLS:C1864965|MESH:C537100|http://identifiers.org/omim/609945
MONDO:0012371	Noonan syndrome 3	biolink:Disease	mondo	MESH:C537847|UMLS:C1860991|OMIM:609942|DOID:0060581|GARD:0009885	gard_rare	Noonan syndrome 3; NS3|Noonan syndrome 3|KRAS gene related Noonan syndrome|Noonan syndrome caused by mutation in KRAS|Noonan syndrome type 3|NS3|KRAS Noonan syndrome	http://purl.obolibrary.org/obo/MONDO_0012371	Any Noonan syndrome in which the cause of the disease is a mutation in the KRAS gene.	http://identifiers.org/omim/609942|MESH:C537847|UMLS:C1860991|DOID:0060581
MONDO:0012372	obsolete hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0012372		
MONDO:0024344	pityriasis folliculorum	biolink:Disease	mondo	ICD9:696.5|SCTID:200993008|UMLS:C0406312		pityriasis folliculorum	http://purl.obolibrary.org/obo/MONDO_0024344		SNOMEDCT:200993008|UMLS:C0406312
HP:0033062	Abnormal factor IX activity	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0033062	Abnormal activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.	
MONDO:0000377	malignant Leydig cell tumor	biolink:Disease	mondo	DOID:0050616|UMLS:C0334410|NCIT:C4213|ICDO:8650/3		malignant neoplasm of Leydig cell|malignant Leydig cell neoplasm|malignant interstitial cell tumor|Leydig cell cancer|Leydig cell tumor, malignant|cancer of Leydig cell|malignant interstitial cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0000377	A Leydig cell tumor characterized by large tumor size, the presence of cytologic atypia, increased mitotic activity, necrosis, and vascular invasion. Approximately 10% of the testicular Leydig cell tumors show malignant characteristics and metastasize. Leydig cell tumors of the ovary follow a benign clinical course.	NCIT:C4213|UMLS:C0334410|DOID:0050616
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	biolink:PhenotypicFeature	mondo	UMLS:C4024739			http://purl.obolibrary.org/obo/HP_0008062	Absence or underdevelopment of the anterior segment of the eye.	
MONDO:0024343	pityriasis simplex	biolink:Disease	mondo	SCTID:200767005|ICD9:690.18		furfuracea|pityriasis simplex|dandruff	http://purl.obolibrary.org/obo/MONDO_0024343		SNOMEDCT:200767005
MONDO:0000376	respiratory system cancer	biolink:Disease	mondo	ICD9:165.8|DOID:0050615|SCTID:449096009|ICD9:165.9|UMLS:C3164456		malignant respiratory system neoplasm|cancer of respiratory system|respiratory system cancer|malignant neoplasm of respiratory system	http://purl.obolibrary.org/obo/MONDO_0000376	A malignant neoplasm involving the respiratory system	SNOMEDCT:449096009|UMLS:C3164456|DOID:0050615
MONDO:0000375	bronchus carcinoma in situ	biolink:Disease	mondo	DOID:0050614|SCTID:92557009|UMLS:C2939445		bronchus in situ carcinoma|carcinoma in situ of bronchus|stage 0 bronchus carcinoma	http://purl.obolibrary.org/obo/MONDO_0000375	A carcinoma in situ involving a bronchus.	UMLS:C2939445|DOID:0050614|SNOMEDCT:92557009
MONDO:0024346	pityriasis amiantacea	biolink:Disease	mondo	ICD9:696.5|SCTID:238924007|UMLS:C0343100		pityriasis amiantacea|tinea amiantacea	http://purl.obolibrary.org/obo/MONDO_0024346		SNOMEDCT:238924007|UMLS:C0343100
MONDO:0024345	pityriasis streptogenes	biolink:Disease	mondo	ICD9:696.5|SCTID:200994002		pityriasis streptogenes	http://purl.obolibrary.org/obo/MONDO_0024345		SNOMEDCT:200994002
MONDO:0000374	bile duct carcinoma in situ	biolink:Disease	mondo	DOID:0050613		stage 0 bile duct carcinoma|bile duct in situ carcinoma|carcinoma in situ of bile duct	http://purl.obolibrary.org/obo/MONDO_0000374	A carcinoma in situ involving a bile duct.	DOID:0050613
HP:0008063	Aplasia/Hypoplasia of the lens	biolink:PhenotypicFeature	mondo	UMLS:C4024738		Absent/underdeveloped lens|Absent/small lens	http://purl.obolibrary.org/obo/HP_0008063	Absence or underdevelopment of the lens.	
MONDO:0024348	pityriasis capitis	biolink:Disease	mondo	SCTID:400201008		pityriasis capitis	http://purl.obolibrary.org/obo/MONDO_0024348		SNOMEDCT:400201008
MONDO:0000379	malignant Sertoli-Leydig cell tumor	biolink:Disease	mondo	DOID:0050618		Sertoli-Leydig cell tumor, malignant	http://purl.obolibrary.org/obo/MONDO_0000379	A malignant form of Sertoli-leydig cell tumor.	DOID:0050618
MONDO:0000378	malignant Sertoli cell tumor	biolink:Disease	mondo	ICDO:8630/3|ICDO:8640/3|DOID:0050617|NCIT:C67006|UMLS:C0334406		Sertoli cell tumor, malignant|malignant Androblastoma	http://purl.obolibrary.org/obo/MONDO_0000378	A Sertoli cell tumor of the testis or the ovary which metastasizes to another anatomic site.	NCIT:C67006|UMLS:C0334406|DOID:0050617
MONDO:0024349	pityriasis alba	biolink:Disease	mondo	SCTID:402296004|ICD9:696.5		pityriasis alba	http://purl.obolibrary.org/obo/MONDO_0024349		SNOMEDCT:402296004
CHEBI:63473	aromatic amino-acid anion	biolink:ChemicalSubstance	mondo			aromatic amino-acid anions	http://purl.obolibrary.org/obo/CHEBI_63473	An aromatic amino acid whose alpha-carboxylic acid group is ionized (non-protonated).	
MONDO:0024340	retinal neuroblastoma	biolink:Disease	mondo	NCIT:C6956		retina neuroblastoma|neuroblastoma of retina|neuroblastoma of the retina|retinal neuroblastoma	http://purl.obolibrary.org/obo/MONDO_0024340	A neuroblastoma arising from the retina.	NCIT:C6956
MONDO:0000373	gall bladder carcinoma in situ	biolink:Disease	mondo	DOID:0050612		gall bladder in situ carcinoma|carcinoma in situ of gall bladder|stage 0 gall bladder carcinoma	http://purl.obolibrary.org/obo/MONDO_0000373	A carcinoma in situ involving a gall bladder.	DOID:0050612
MONDO:0000372	pharynx carcinoma in situ	biolink:Disease	mondo	NCIT:C4942|SCTID:92681005|DOID:0050611|UMLS:C0347098		carcinoma in situ of pharynx|carcinoma in situ of the pharynx|pharynx carcinoma in situ|pharynx in situ carcinoma|stage 0 pharynx carcinoma|stage 0 pharyngeal carcinoma|pharyngeal carcinoma in situ|pharyngeal cancer stage 0|stage 0 pharyngeal cancer|stage 0 pharyngeal throat cancer|stage 0 carcinoma of the pharynx|stage 0 carcinoma of pharynx	http://purl.obolibrary.org/obo/MONDO_0000372	Stage 0 carcinoma of the pharynx according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions.	NCIT:C4942|DOID:0050611|SNOMEDCT:92681005|UMLS:C0347098
MONDO:0000371	oral cavity carcinoma in situ	biolink:Disease	mondo	NCIT:C4587|SCTID:92660005|DOID:0050610|UMLS:C0347073		carcinoma in situ of the mouth|carcinoma in situ of mouth|stage 0 oral cavity cancer|stage 0 oral cavity cancer aJCC v6 and v7|mouth carcinoma in situ|stage 0 oral cavity carcinoma|oral cavity in situ carcinoma|stage 0 mouth carcinoma|stage 0 carcinoma of the oral cavity|stage 0 carcinoma of oral cavity|stage 0 oral cavity cancer aJCC v7|stage 0 carcinoma of the mouth|stage 0 carcinoma of mouth|stage 0 oral cavity cancer aJCC v6|carcinoma in situ of the oral cavity|carcinoma in situ of oral cavity	http://purl.obolibrary.org/obo/MONDO_0000371	A in situ carcinoma that involves the oral cavity.	NCIT:C4587|SNOMEDCT:92660005|DOID:0050610|UMLS:C0347073
MONDO:0024341	retinal cell neoplasm	biolink:Disease	mondo	NCIT:C7061|UMLS:C1335765		retinal neural cell neoplasm|retinal cell tumor|retinal cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0024341	A neoplasm arising from the neural retina. This category includes retinoblastoma and retinocytoma.	UMLS:C1335765|NCIT:C7061
MONDO:0000370	obsolete Askin's tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000370		
MONDO:0012366	GBD3	biolink:Disease	mondo	UMLS:C1835924|OMIM:609919|MESH:C563686		gallbladder disease 3|gallbladder disease 3; GBD3|GBD3	http://purl.obolibrary.org/obo/MONDO_0012366		UMLS:C1835924|http://identifiers.org/omim/609919|MESH:C563686
MONDO:0012367	retinitis pigmentosa 31	biolink:Disease	mondo	ICD10:H35.5|OMIM:609923|MESH:C563685|DOID:0110391|GARD:0010396|UMLS:C1835923	gard_rare	RP 31|TOPORS retinitis pigmentosa|retinitis pigmentosa type 31|RP31|retinitis pigmentosa 31; RP31|retinitis pigmentosa 31|retinitis pigmentosa caused by mutation in TOPORS	http://purl.obolibrary.org/obo/MONDO_0012367	Any retinitis pigmentosa in which the cause of the disease is a mutation in the TOPORS gene.	UMLS:C1835923|http://identifiers.org/omim/609923|DOID:0110391|MESH:C563685
MONDO:0012364	dilated cardiomyopathy 1Q	biolink:Disease	mondo	DOID:0110442|ICD10:I42.0|MESH:C563688|OMIM:609915|UMLS:C1835926		cardiomyopathy, dilated, 1Q|dilated cardiomyopathy type 1Q|CMD1Q|cardiomyopathy, dilated, 1Q; CMD1Q	http://purl.obolibrary.org/obo/MONDO_0012364	A dilated cardiomyopathy that has material basis in variation in the chromosome region 7q22.3-q31.1.	UMLS:C1835926|http://identifiers.org/omim/609915|DOID:0110442|MESH:C563688
MONDO:0012365	GBD2	biolink:Disease	mondo	UMLS:C1835925|MESH:C563687|OMIM:609918		GBD2|gallbladder disease 2|gallbladder disease 2; GBD2	http://purl.obolibrary.org/obo/MONDO_0012365		UMLS:C1835925|http://identifiers.org/omim/609918|MESH:C563687
MONDO:0012368	aminoacylase 1 deficiency	biolink:Disease	mondo	MESH:C538246|UMLS:C1835922|GARD:0009741|SCTID:709282004|ICD9:270.8|Orphanet:137754|EFO:1001981|ICD10:E72.8|OMIM:609924	ordo_disease|gard_rare	aminoacylase 1 deficiency; ACY1D|ACY1D|N-acyl-L-amino acid amidohydrolase deficiency|neurological conditions associated with aminoacylase 1 deficiency|ACY1 deficiency|deficiency of the aminoacylase-1 enzyme|aminoacylase 1 deficiency	http://purl.obolibrary.org/obo/MONDO_0012368	Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms.	UMLS:C1835922|ORPHA:137754|MESH:C538246|http://identifiers.org/omim/609924|SNOMEDCT:709282004
MONDO:0012369	systemic lupus erythematosus, susceptibility to, 6	biolink:Disease	mondo	OMIM:609939	predisposition	systemic lupus erythematosus, susceptibility to, 6|systemic lupus erythematosus, susceptibility to, 6; SLEB6|SLEB6	http://purl.obolibrary.org/obo/MONDO_0012369		http://identifiers.org/omim/609939
MONDO:0012362	dilated cardiomyopathy 1P	biolink:Disease	mondo	DOID:0110439|ICD10:I42.0|MESH:C563690|OMIM:609909|UMLS:C1835928		dilated cardiomyopathy type 1P|CMD1P|cardiomyopathy, dilated, 1P|cardiomyopathy, dilated, type 1P|familial isolated dilated cardiomyopathy caused by mutation in PLN|PLN familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, 1P; CMD1P	http://purl.obolibrary.org/obo/MONDO_0012362	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PLN gene.	UMLS:C1835928|http://identifiers.org/omim/609909|DOID:0110439|MESH:C563690
HP:0008055	Aplasia/Hypoplasia affecting the uvea	biolink:PhenotypicFeature	mondo	UMLS:C4024746		Absent/underdeveloped uvea	http://purl.obolibrary.org/obo/HP_0008055	Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid.	
MONDO:0012363	retinitis pigmentosa 32	biolink:Disease	mondo	MESH:C563689|UMLS:C1835927|ICD10:H35.5|OMIM:609913|GARD:0010395|DOID:0110355	gard_rare	retinitis pigmentosa 32|RP32|retinitis pigmentosa type 32|retinitis pigmentosa 32; RP32	http://purl.obolibrary.org/obo/MONDO_0012363	A retinitis pigmentosa that has material basis in variation in the chromosome region 1p21.3-p13.3.	UMLS:C1835927|http://identifiers.org/omim/609913|DOID:0110355|MESH:C563689
MONDO:0012360	congenital nongoitrous hypothryoidism 3	biolink:Disease	mondo	MESH:C567935|DOID:0070127|ICD10:E03.1|UMLS:C2940785|OMIM:609893		thyrotropin resistance|CHNG3|hypothyroidism, congenital, nongoitrous, 3|congenital nongoitrous hypothyroidism 3|hypothyroidism, congenital, nongoitrous, 3; CHNG3|resistance to thyrotropin	http://purl.obolibrary.org/obo/MONDO_0012360	A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has material basis in variation in the chromosome region 15q25.3-q26.1.	http://identifiers.org/omim/609893|UMLS:C2940785|MESH:C567935|DOID:0070127
MONDO:0012361	systemic lupus erythematosus, susceptibility to, 5	biolink:Disease	mondo	OMIM:609903	predisposition	systemic lupus erythematosus, susceptibility to, 5; SLEB5|systemic lupus erythematosus, susceptibility to, 5|SLEB5	http://purl.obolibrary.org/obo/MONDO_0012361		http://identifiers.org/omim/609903
HP:0008056	Aplasia/Hypoplasia affecting the eye	biolink:PhenotypicFeature	mondo	UMLS:C4024745		Absent/underdeveloped eye|Absent/small eye	http://purl.obolibrary.org/obo/HP_0008056		
MONDO:0024333	sciatica	biolink:Disease	mondo	SCTID:23056005|ICD9:724.3|MESH:D012585		sciatic neuralgia|neuralgia, sciatic|sciatica, bilateral|neuralgias, sciatic|sciatic Neuralgias|bilateral sciatica|bilateral sciaticas	http://purl.obolibrary.org/obo/MONDO_0024333	A condition characterized by pain radiating from the back into the buttock and posterior/lateral aspects of the leg. Sciatica may be a manifestation of sciatic neuropathy; radiculopathy (involving the spinal nerve roots; L4, L5, S1, or S2, often associated with intervertebral disk displacement); or lesions of the cauda equina.	SNOMEDCT:23056005|MESH:D012585
MONDO:0000388	obsolete anonychia congenita	biolink:Disease	mondo			hyponychia congenita	http://purl.obolibrary.org/obo/MONDO_0000388		
MONDO:0000387	hypochromic microcytic anemia (disease)	biolink:Disease	mondo	HP:0004840|UMLS:C0271901|SCTID:44666001|DOID:0050642|MESH:C536357		hypochromic microcytic anemia	http://purl.obolibrary.org/obo/MONDO_0000387	Anemia in which the circulating RBCs are smaller than the usual size of RBCs (microcytic) and have decreased red color (hypochromic).	SNOMEDCT:44666001|UMLS:C0271901|MESH:C536357|DOID:0050642
MONDO:0024332	perennial allergic rhinitis	biolink:Disease	mondo	NCIT:C92189|UMLS:C0035457|SCTID:446096008		perennial allergic rhinitis|nonseasonal allergic rhinitis|non-seasonal allergic rhinitis	http://purl.obolibrary.org/obo/MONDO_0024332	Allergic rhinitis caused by indoor allergens and lasting year round.	SNOMEDCT:446096008|NCIT:C92189|UMLS:C0035457
MONDO:0000386	digestive system neuroendocrine tumor, grade 1/2	biolink:Disease	mondo	DOID:0050626|ONCOTREE:GINET|UMLS:C2987127|NCIT:C95404		digestive system NET|alimentary part of gastrointestinal system neuroendocrine tumor|digestive system neuroendocrine tumor|gastrointestinal neuroendocrine tumors|gastrointestinal neuroendocrine tumor|Gastroenteropancreatic NET|digestive system well differentiated Neuroendocrine tumor|gastrointestinal system neuroendocrine tumor|malignant gastrointestinal neuroendocrine tumor|Gastroenteropancreatic Neuroendocrine tumor|gastrointestinal NET|GINET	http://purl.obolibrary.org/obo/MONDO_0000386	A well-differentiated neuroendocrine tumor arising from the digestive system. It is characterized by the presence of cells with features similar to those of the normal endocrine cells of the digestive system. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation and hormones. There is mild to moderate nuclear atypia and less than 20 mitoses per 10 HPF. It includes well-differentiated endocrine tumors or carcinoid tumors and well-differentiated endocrine carcinomas.	NCIT:C95404|DOID:0050626|UMLS:C2987127
MONDO:0024335	retrobulbar neuritis	biolink:Disease	mondo	SCTID:230507009			http://purl.obolibrary.org/obo/MONDO_0024335		SNOMEDCT:230507009
MONDO:0000385	benign digestive system neoplasm	biolink:Disease	mondo	NCIT:C4787|DOID:0050624|UMLS:C0497538		benign tumor of GI system|alimentary part of gastrointestinal system benign neoplasm|gastrointestinal system benign neoplasm|benign gastrointestinal neoplasm|benign GI tumor|benign GI neoplasm|benign gastrointestinal tumor|benign tumor of digestive system|benign tumor of the digestive system|benign neoplasm of digestive system|benign GI system neoplasm|benign neoplasm of gastrointestinal system|benign neoplasm of the digestive system|benign digestive system tumor|benign tumor of the gastrointestinal system|benign gastrointestinal system tumor|benign tumor of gastrointestinal system|benign GI system tumor|benign tumor of the GI system	http://purl.obolibrary.org/obo/MONDO_0000385	A non-metastasizing neoplasm arising from any part of the digestive system.	NCIT:C4787|DOID:0050624|UMLS:C0497538
MONDO:0024334	peripheral nerve lesion	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0024334		
MONDO:0024337	urothelial neoplasm	biolink:Disease	mondo	UMLS:C1519840|NCIT:C39852		urothelial neoplasm|urothelium neoplasm (disease)|transitional cell neoplasm of the urinary tract|neoplasm of urothelium|urothelium tumor|urothelium neoplasm|tumor of urothelium	http://purl.obolibrary.org/obo/MONDO_0024337	A neoplasm involving a urothelium.	UMLS:C1519840|NCIT:C39852
MONDO:0024336	vulvar adenocarcinoma	biolink:Disease	mondo	DOID:2098|UMLS:C1336975|NCIT:C6380|Orphanet:494454		vulvar adenocarcinoma|adenocarcinoma of the vulva|adenocarcinoma of vulva|mammalian vulva adenocarcinoma|vulva adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0024336	An adenocarcinoma that arises from the vulva. Representative examples include Bartholin gland adenocarcinoma, eccrine adenocarcinoma, apocrine adenocarcinoma, and sebaceous carcinoma.	NCIT:C6380|UMLS:C1336975|ORPHA:494454|DOID:2098
MONDO:0024339	lymph node neoplasm	biolink:Disease	mondo	GARD:0006932|NCIT:C35497		neoplasm of lymph node|lymph node tumor|lymph node neoplasm|lymph node neoplasm (disease)|tumor of lymph node	http://purl.obolibrary.org/obo/MONDO_0024339	A neoplasm involving a lymph node.	NCIT:C35497
HP:0008071	Maternal hypertension	biolink:PhenotypicFeature	mondo	UMLS:C0565599|SNOMEDCT_US:288250001			http://purl.obolibrary.org/obo/HP_0008071	Increased blood pressure during a pregnancy.	
HP:0008070	Sparse hair	biolink:PhenotypicFeature	mondo	UMLS:C1837770|MSH:D007039|MEDDRA:10021126|SNOMEDCT_US:56558005|UMLS:C0020678|UMLS:C1860844|SNOMEDCT_US:53602002	hposlim_core	Decreased hair growth on body|Hypotrichosis|Sparse hair since birth|Decreased hair growth|Marked hypotrichosis|Sparse hair|Thin, sparse hair	http://purl.obolibrary.org/obo/HP_0008070	Reduced density of hairs.	
MONDO:0000389	atelosteogenesis	biolink:Disease	mondo	SCTID:43814000|DOID:0050648|OMIMPS:108720|UMLS:CN163181			http://purl.obolibrary.org/obo/MONDO_0000389		UMLS:CN163181|DOID:0050648|SNOMEDCT:43814000
MONDO:0024338	mucinous neoplasm	biolink:Disease	mondo	UMLS:C1334811|NCIT:C7070		mucinous tumor|mucinous neoplasm	http://purl.obolibrary.org/obo/MONDO_0024338		UMLS:C1334811|NCIT:C7070
MONDO:0000380	paranasal sinus carcinoma	biolink:Disease	mondo	NCIT:C6014|UMLS:C0854995|DOID:0050619		accessory sinus cancer|adenoid cystic carcinoma of paranasal sinus|carcinoma of paranasal sinus|accessory sinus carcinoma|paranasal sinus cancer|cancer of paranasal sinus|malignant paranasal sinus neoplasm|paranasal sinus mucoepidermoid carcinoma|paranasal sinus adenoid cystic carcinoma|squamous cell carcinoma of paranasal sinus|carcinoma of the accessory sinus|carcinoma of accessory sinus|paranasal sinus carcinoma|adenoid cystic carcinoma of accessory sinus|mucoepidermoid carcinoma of accessory sinus|paranasal sinus adenocarcinoma|malignant neoplasm of paranasal sinus|epidermoid carcinoma of the paranasal sinus|paranasal sinus squamous cell carcinoma|carcinoma of the paranasal sinus	http://purl.obolibrary.org/obo/MONDO_0000380	A malignant epithelial neoplasm arising in the paranasal sinus.	DOID:0050619|NCIT:C6014|UMLS:C0854995
MONDO:0000384	bladder benign neoplasm	biolink:Disease	mondo	UMLS:C0154017|COHD:201824|DOID:0050623|SCTID:91992005|NCIT:C3618|ICD9:223.3		benign tumor of the bladder|benign urinary bladder neoplasm|benign bladder tumor|benign tumor of bladder|urinary bladder benign neoplasm|benign neoplasm of the urinary bladder|benign neoplasm of urinary bladder|benign tumor of the urinary bladder|benign urinary bladder tumor|benign bladder neoplasm|benign tumor of urinary bladder|benign neoplasm of the bladder|benign neoplasm of bladder	http://purl.obolibrary.org/obo/MONDO_0000384	A benign abnormal growth of the cells that comprise the bladder.	NCIT:C3618|DOID:0050623|UMLS:C0154017|SNOMEDCT:91992005
MONDO:0000383	benign reproductive system neoplasm	biolink:Disease	mondo	DOID:0050622|UMLS:C1332536|NCIT:C7617		benign reproductive system neoplasm|reproductive organ benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000383	A non-metastasizing neoplasm that arises from the male or female reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, uterine corpus leiomyoma, and benign ovarian serous tumor.	UMLS:C1332536|DOID:0050622|NCIT:C7617
MONDO:0024331	colorectal carcinoma	biolink:Disease	mondo	UMLS:CN221574|DOID:0080199|NCIT:C2955		carcinoma of the large bowel|colorectal cancer, NOS|cancer of the large bowel|large bowel cancer|carcinoma of large bowel|large intestine carcinoma|cancer of large bowel|colorectal cancer|carcinoma of colorectum|carcinoma of the large intestine|colorectal carcinoma|cancer of the large intestine|large intestine cancer|carcinoma of large intestine|colorectal (colon or rectal) cancer|colorectum carcinoma|cancer of large intestine|large bowel carcinoma|CRC	http://purl.obolibrary.org/obo/MONDO_0024331	A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas.	UMLS:CN221574|DOID:0080199|NCIT:C2955
MONDO:0000382	respiratory system benign neoplasm	biolink:Disease	mondo	UMLS:C0497556|SCTID:255166003|DOID:0050621		respiratory system benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000382	A benign neoplasm that involves the respiratory system.	SNOMEDCT:255166003|DOID:0050621|UMLS:C0497556
MONDO:0024330	infectious otitis media	biolink:Disease	mondo	NCIT:C84354|UMLS:C2827407|UMLS:C0271429		infectious otitis Media|otitis media|AOM|middle Ear infection|acute otitis Media	http://purl.obolibrary.org/obo/MONDO_0024330	Inflammation of the anatomical structures of the middle ear secondary to an infectious process. Bacterial etiology is most common, but both viral and fungal pathogens are also possible. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever. In severe infections, inflammation and edema of the structures of the middle ear can lead to perforation of the tympanic membrane secondary to the buildup of pressure in the narrow space.	NCIT:C84354|UMLS:C0271429|UMLS:C2827407
MONDO:0000381	infiltrating renal pelvis transitional cell carcinoma	biolink:Disease	mondo	DOID:0050620			http://purl.obolibrary.org/obo/MONDO_0000381	A infiltrating urothelial carcinoma that involves the renal pelvis.	DOID:0050620
MONDO:0012355	autosomal recessive nonsyndromic deafness 28	biolink:Disease	mondo	OMIM:609823|DOID:0110486|ICD10:H90.3|MESH:C565218|UMLS:C1853276|NCIT:C129023		TRIOBP autosomal recessive nonsyndromic deafness|DFNB28|autosomal recessive nonsyndromic deafness type 28|deafness, autosomal recessive 28; DFNB28|deafness, autosomal recessive type 28|autosomal recessive nonsyndromic deafness caused by mutation in TRIOBP|deafness, autosomal recessive 28|autosomal recessive deafness 28	http://purl.obolibrary.org/obo/MONDO_0012355	An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss.	NCIT:C129023|http://identifiers.org/omim/609823|MESH:C565218|DOID:0110486|UMLS:C1853276
MONDO:0012356	glomerulocystic kidney disease with hyperuricemia and isosthenuria	biolink:Disease	mondo	OMIM:609886|UMLS:C1835934|MESH:C563693		glomerulocystic kidney disease with hyperuricemia and isosthenuria	http://purl.obolibrary.org/obo/MONDO_0012356		MESH:C563693|UMLS:C1835934|http://identifiers.org/omim/609886
MONDO:0012353	erythrocytosis, familial, 3	biolink:Disease	mondo	UMLS:C1853286|DOID:0080338|OMIM:609820|MESH:C565221		erythrocytosis, familial, 3|erythrocytosis, familial, type 3|erythrocytosis, familial, 3; ECYT3|EGLN1 familial polycythemia|familial polycythemia caused by mutation in EGLN1|ECYT3	http://purl.obolibrary.org/obo/MONDO_0012353	Any familial polycythemia in which the cause of the disease is a mutation in the EGLN1 gene.	http://identifiers.org/omim/609820|DOID:0080338|MESH:C565221|UMLS:C1853286
MONDO:0012354	platelet-type bleeding disorder 8	biolink:Disease	mondo	ICD10:D69.8|UMLS:C1853278|SCTID:725291001|MESH:C565220|Orphanet:36355|OMIM:609821|GARD:0012478|DOID:0060692	ordo_disease	P2Y12 defect|bleeding disorder, platelet-type 8|bleeding disorder, platelet-type, 8|ADP platelet receptor P2Y12 defect|BDPLT8|bleeding disorder due to P2Ry12 defect|bleeding disorder, platelet-type, 8; BDPLT8|bleeding disorder due to P2Rx1 defect, somatic	http://purl.obolibrary.org/obo/MONDO_0012354	P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.	ORPHA:36355|DOID:0060692|http://identifiers.org/omim/609821|SNOMEDCT:725291001|MESH:C565220|UMLS:C1853278
MONDO:0012359	combined immunodeficiency due to partial RAG1 deficiency	biolink:Disease	mondo	MESH:C563691|UMLS:C4510944|ICD10:D81.8|Orphanet:231154|OMIM:609889|SCTID:725290000|UMLS:C1835931	ordo_disease	Cid due to partial RAG1 deficiency|combined immunodeficiency with expansion of gamma delta T cells|Cid with expansion of gamma delta T cells|ALPHA/BETA T-cell lymphopenia with gamma/DELTA T-cell expansion, severe CYTOMEGALOVIRUS infection, and autoimmunity	http://purl.obolibrary.org/obo/MONDO_0012359	Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.	MESH:C563691|UMLS:C1835931|UMLS:C4510944|ORPHA:231154|http://identifiers.org/omim/609889|SNOMEDCT:725290000
MONDO:0012357	glaucoma 1, open angle, G	biolink:Disease	mondo	OMIM:609887|MESH:C563692|UMLS:C1835933		open-angle glaucoma caused by mutation in WDR36|GLC1G|glaucoma 1, open angle, type G|glaucoma 1, open angle, G; GLC1G|glaucoma 1, open angle, G|WDR36 open-angle glaucoma	http://purl.obolibrary.org/obo/MONDO_0012357	Any open-angle glaucoma in which the cause of the disease is a mutation in the WDR36 gene.	MESH:C563692|UMLS:C1835933|http://identifiers.org/omim/609887
MONDO:0012358	LPRS1	biolink:Disease	mondo	OMIM:609888	predisposition	leprosy, susceptibility to, 1; LPRS1|LPRS1|leprosy, susceptibility to, 1|leprosy, Paucibacillary type, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0012358		http://identifiers.org/omim/609888
HP:0008066	Abnormal blistering of the skin	biolink:PhenotypicFeature	mondo	UMLS:C2220104|UMLS:C2132198|UMLS:C0241054		Blisters|Blister|Abnormal blistering of the skin|Skin bullae|Skin blisters|Blistering, generalized	http://purl.obolibrary.org/obo/HP_0008066	The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.	
MONDO:0012351	zygodactyly type 1	biolink:Disease	mondo	UMLS:C1853294|OMIM:609815|ICD10:Q70.3|MESH:C565223|Orphanet:295187	ordo_clinical_subtype	syndactyly type 1a|Zygodactyly, Weidenreich type|SD1, Weidenreich type|Zd1|SD1a|syndactyly type 1, Weidenreich type|zygodactyly type 1|ZYGODACTYLY 1	http://purl.obolibrary.org/obo/MONDO_0012351		http://identifiers.org/omim/609815|MESH:C565223|ORPHA:295187|UMLS:C1853294
MONDO:0012352	vasculitis, lymphocytic, cutaneous small vessel	biolink:Disease	mondo	OMIM:609817|MESH:C565222|UMLS:C1853293		vasculitis, lymphocytic, cutaneous small vessel	http://purl.obolibrary.org/obo/MONDO_0012352		http://identifiers.org/omim/609817|MESH:C565222|UMLS:C1853293
MONDO:0012350	complement factor H deficiency	biolink:Disease	mondo	MESH:C562875|SCTID:234622003|OMIM:609814|ICD9:279.8		complement factor H deficiency; CFHD|CFHD|complement factor H deficiency|Cfh deficiency|factor H deficiency	http://purl.obolibrary.org/obo/MONDO_0012350		MESH:C562875|SNOMEDCT:234622003|http://identifiers.org/omim/609814
HP:0045058	Abnormality of the testis size	biolink:PhenotypicFeature	mondo	UMLS:C4073180			http://purl.obolibrary.org/obo/HP_0045058	An anomaly of the size of the testicle (the male gonad).	
HGNC:15718	APCDD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15718		
MONDO:0024390	obsolete actinomycotic infectious disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0024390		
MONDO:0024392	anaerobic balanitis	biolink:Disease	mondo	SCTID:236746000|UMLS:C0403764		anaerobic balanitis	http://purl.obolibrary.org/obo/MONDO_0024392		SNOMEDCT:236746000|UMLS:C0403764
MONDO:0024388	Clostridium infectious disease	biolink:Disease	mondo	EFO:1000874|MESH:D003015|ICD9:040.89|SCTID:56688005		Clostridium infection|commensal Clostridium infection|infections, Clostridium|commensal infections, Clostridium|infection, Clostridium|commensal infection, Clostridium	http://purl.obolibrary.org/obo/MONDO_0024388	Infections with bacteria of the genus clostridium.	MESH:D003015|SNOMEDCT:56688005
MONDO:0024387	benign ovarian sex cord-stromal tumor	biolink:Disease	mondo	UMLS:C1332528|DOID:0080370|NCIT:C6803		ovarian sex cord-stromal tumor, benign|ovarian SEX cord-stromal tumor, benign|Sex cord stromal tumor, benign|benign Sex cord-stromal tumor of the ovary|benign Sex cord-stromal tumor of ovary|benign ovarian Sex cord-stromal neoplasm|benign Sex cord-stromal neoplasm of the ovary|benign Sex cord-stromal neoplasm of ovary|benign ovarian Sex cord-stromal tumor	http://purl.obolibrary.org/obo/MONDO_0024387	A sex cord-stromal tumor arising from the ovary, without metastatic potential.	DOID:0080370|UMLS:C1332528|NCIT:C6803
MONDO:0024389	anaerobic bacteria infectious disease	biolink:Disease	mondo	UMLS:C0854328|ICD9:041.84|SCTID:423451008		infection due to anaerobic bacteria|anaerobic bacterial infection|infection caused by anaerobic bacteria	http://purl.obolibrary.org/obo/MONDO_0024389		UMLS:C0854328|SNOMEDCT:423451008
MONDO:0024382	circadian rhythm sleep disorder, shift work type	biolink:Disease	mondo	SCTID:713498009|ICD10:G47.26		shift work disorder|circadian rhythm sleep disorder of shift work type	http://purl.obolibrary.org/obo/MONDO_0024382	A circadian sleep disorder that occurs when work schedules force people to be awake when their circadian rhythms dictate that they should be sleeping. It is classified as a Circadian Rhythm Disorder (CRD) and is extrinsic, i.e. caused by external behavioral factors.	SNOMEDCT:713498009
MONDO:0024381	circadian rhythm sleep disorder, jet lag type	biolink:Disease	mondo	UMLS:C0231311|ICD10:G47.25		jet lag	http://purl.obolibrary.org/obo/MONDO_0024381	A circadian sleep disorder that results from travelling across time zones.	UMLS:C0231311
MONDO:0024384		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0024384		
MONDO:0024386	large cell lung carcinoma, clear cell variant	biolink:Disease	mondo	ONCOTREE:CCLC|NCIT:C4451|UMLS:C1707407		clear cell carcinoma of the lung|clear cell lung carcinoma, large cell type|clear cell carcinoma of the lung, large cell type|clear cell carcinoma of lung, large cell type|large cell lung carcinoma, clear cell variant	http://purl.obolibrary.org/obo/MONDO_0024386	A morphologic variant of large cell lung carcinoma characterized by a predominance of clear cells that may or may not contain glycogen.	UMLS:C1707407|NCIT:C4451
MONDO:0024385	obsolete arenavirus infectious disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0024385		
HP:0045005	Neural tube defect	biolink:PhenotypicFeature	mondo	MSH:D009436|UMLS:C0027794|SNOMEDCT_US:253098009		Abnormality of neural tube closure	http://purl.obolibrary.org/obo/HP_0045005	A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine.	
NCBITaxon:2697495	Spiralia	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2697495		
MONDO:0024377	circadian rhythm sleep disorder, delayed sleep phase type	biolink:Disease	mondo	UMLS:C0393770|DOID:0111141|ICD10:G47.21|SCTID:28011000119104		DSPD|sleep-wake schedule disorder, delayed phase|sleepwake schedule disorder, delayed phase|DSPS|delayed sleep phase syndrome|sleep wake schedule disorder, delayed phase type	http://purl.obolibrary.org/obo/MONDO_0024377	A circadian sleep disorder in which the individual's internal body clock is delayed with respect to the external day/night cycle.	DOID:0111141|SNOMEDCT:28011000119104|UMLS:C0393770
MONDO:0024376	sleep disorder, initiating and maintaining sleep	biolink:Disease	mondo	SCTID:194437008		disorders of initiating and maintaining sleep	http://purl.obolibrary.org/obo/MONDO_0024376		SNOMEDCT:194437008
MONDO:0024379	circadian rhythm sleep disorder, irregular sleep wake type	biolink:Disease	mondo	UMLS:C0393771|ICD9:327.33|ICD10:G47.23|SCTID:271793004		irregular sleep-wake disorder|ISWD|irregular sleep-wake pattern	http://purl.obolibrary.org/obo/MONDO_0024379	A circadian sleep disorder characterized by at least three sleep episodes per 24-hour period, irregularly from day to day.	UMLS:C0393771|SNOMEDCT:271793004
MONDO:0024378	circadian rhythm sleep disorder, advanced sleep phase type	biolink:Disease	mondo	ICD9:327.32|SCTID:31537005|ICD10:G47.22		sleep-wake schedule disorder, advanced phase type|ASPS|circadian rhythm sleep disorder, advanced sleep phase type|circadian rhythm sleep disorder, advanced sleep phase|advanced sleep phase syndrome	http://purl.obolibrary.org/obo/MONDO_0024378	A circadian sleep disorder characterized by bedtime and wake-up time much earlier than normal, although sleep quality is normal.	SNOMEDCT:31537005
UBERON_CORE:transitively_anteriorly_connected_to	transitively anteriorly connected to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/uberon/core#transitively_anteriorly_connected_to	.	
MONDO:0012399	complex cortical dysplasia with other brain malformations 7	biolink:Disease	mondo	OMIM:610031|ICD10:Q04.3|GARD:10783|UMLS:CN203403|DOID:0090132|Orphanet:300573	ordo_malformation_syndrome	polymicrogyria, symmetric or asymmetric; PMGYSA|cortical dysplasia, Complex, with Other brain malformations 7|cortical dysplasia, COMPLEX, with OTHER brain malformations 7; CDCBM7|PMGYSA|polymicrogyria, symmetric or asymmetric|TUBB2B complex cortical dysplasia with other brain malformations|polymicrogyria due to TUBB2B mutation|complex cortical dysplasia with other brain malformations caused by mutation in TUBB2B|CDCBM7|complex cortical dysplasia with other brain malformations type 7	http://purl.obolibrary.org/obo/MONDO_0012399	Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2B gene.	http://identifiers.org/omim/610031|DOID:0090132|ORPHA:300573|UMLS:CN203403
HGNC:15714	LRPPRC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15714		
MONDO:0012397	brachydactyly, coloboma, and anterior segment dysgenesis	biolink:Disease	mondo	OMIM:610023|UMLS:C1864901|MESH:C566484		brachydactyly, coloboma, and anterior segment dysgenesis	http://purl.obolibrary.org/obo/MONDO_0012397		MESH:C566484|http://identifiers.org/omim/610023|UMLS:C1864901
MONDO:0012398	retinal cone dystrophy 3A	biolink:Disease	mondo	OMIM:610024|UMLS:C1864900|MESH:C566483|GARD:0010648	gard_rare	cone dystrophy with night blindness and supernormal rod responses PDE6H-related|achromatopsia 6|cone dystrophy with night blindness and supernormal Rod responses, Pde6H-related|RCD3A|retinal cone dystrophy type 3A|retinal cone dystrophy 3A; RCD3A|retinal cone dystrophy 3A	http://purl.obolibrary.org/obo/MONDO_0012398		MESH:C566483|http://identifiers.org/omim/610024|UMLS:C1864900
HGNC:15710	LDB3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15710		
MONDO:0012391	neuronal ceroid lipofuscinosis 8 northern epilepsy variant	biolink:Disease	mondo	ICD10:E75.4|DOID:0110724|Orphanet:1947|GARD:0002163|OMIM:610003|GARD:0004010	ordo_disease|gard_rare	NCL, Northern epilepsy variant|progressive epilepsy - intellectual disability, Finnish type|EPMR|progressive epilepsy with intellectual disability, northern epilepsy|ceroid lipofuscinosis, neuronal, 8, NORTHERN epilepsy variant|CLN8 disease, late infantile (subtype)|epilepsy mental deterioration Finnish type|CLN8 disease, EPMR (subtype)|neuronal ceroid lipofuscinosis 8|CLN8 disease, Northern epilepsy variant|epilepsy, progressive, with mental retardation|progressive epilepsy with mental retardation, northern epilepsy|neuronal ceroid lipofuscinosis, Northern epilepsy variant|Northern epilepsy|CLN8|epilepsy, progressive, with intellectual disability|progressive epilepsy-intellectual disability syndrome, Finnish type|northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant|ceroid lipofuscinosis neuronal 8	http://purl.obolibrary.org/obo/MONDO_0012391	Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision.	http://identifiers.org/omim/610003|ORPHA:1947|DOID:0110724|UMLS:C1864923
MONDO:0012392	2-methylbutyryl-CoA dehydrogenase deficiency	biolink:Disease	mondo	UMLS:C1864912|GARD:0010322|Orphanet:79157|MESH:C566487|ICD10:E71.1|NCIT:C98863|OMIM:610006	gard_rare|ordo_disease	developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency|2-methylbutyric aciduria|short branched-chain acyl-CoA dehydrogenase deficiency|2-methylbutyryl Glycinuria|butyryl-CoA dehydrogenase deficiency|short/branched-chain acyl-Coa dehydrogenase deficiency|short/branched-chain acyl-coA dehydrogenase deficiency|SBCAD deficiency|2-methylbutyryl-CoA dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0012392	A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported.	MESH:C566487|http://identifiers.org/omim/610006|ORPHA:79157|NCIT:C98863|UMLS:C1864912
MONDO:0012390	arthrogryposis multiplex with deafness, inguinal hernias, and early death	biolink:Disease	mondo	OMIM:610001|GARD:0009946|MESH:C535381|UMLS:C1864939	gard_rare	arthrogryposis multiplex with deafness, inguinal hernias, and early death	http://purl.obolibrary.org/obo/MONDO_0012390		http://identifiers.org/omim/610001|MESH:C535381|UMLS:C1864939
MONDO:0012395	cataract 18	biolink:Disease	mondo	ICD10:Q12.0|MESH:C535337|DOID:0110238|OMIM:610019|GARD:0009892		CATC2|FYCO1 cataract (disease)|cataract type 18|cataract 18|cataract 18 autosomal recessive|cataract (disease) caused by mutation in FYCO1|cataract 18; CTRCT18|autosomal recessive congenital cataract 2|cataract, autosomal recessive congenital 2|CTRCT18	http://purl.obolibrary.org/obo/MONDO_0012395	Any cataract in which the cause of the disease is a mutation in the FYCO1 gene.	http://identifiers.org/omim/610019|DOID:0110238|MESH:C535337
MONDO:0012396	exercise-induced hyperinsulinism	biolink:Disease	mondo	NCIT:C131839|DOID:0070214|OMIM:610021|ICD10:E16.1|SCTID:715830008|Orphanet:165991|UMLS:C1864904|GARD:0009932|MESH:C538376|UMLS:C1864902	ordo_disease	hyperinsulinemic hypoglycemia familial 7|MCT1 hyperinsulinism|hyperinsulinemic hypoglycemia, familial, 7; HHF7|EIHI|exercise induced hyperinsulinemic hypoglycemia|monocarboxylate transporter 1 hyperinsulinism|hyperinsulinemic hypoglycemia, familial, type 7|hyperinsulinism due to monocarboxylate transporter 1 deficiency|hyperinsulinism due to SLC16A1 deficiency|hyperinsulinemic hypoglycemia, familial, 7|hyperinsulinemic hypoglycemia, exercise-induced|exercise-induced hyperinsulinemic hypoglycemia|hyperinsulinemic hypoglycemia exercise-induced|HHF7	http://purl.obolibrary.org/obo/MONDO_0012396	Exercise-induced hyperinsulinism (EIHI) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells.	MESH:C538376|ORPHA:165991|http://identifiers.org/omim/610021|NCIT:C131839|SNOMEDCT:715830008|DOID:0070214|UMLS:C1864904|UMLS:C1864902
MONDO:0012393	congenital brain dysgenesis due to glutamine synthetase deficiency	biolink:Disease	mondo	MESH:C536832|ICD10:E72.8|GARD:0009848|Orphanet:71278|UMLS:C1864910|OMIM:610015	ordo_disease	congenital glutamine deficiency|glutamine synthetase deficiency, congenital systemic|glutamine deficiency, congenital|inherited glutamine synthetase deficiency|glutamine synthase deficiency, congenital systemic|inherited GS deficiency	http://purl.obolibrary.org/obo/MONDO_0012393		http://identifiers.org/omim/610015|MESH:C536832|ORPHA:71278|UMLS:C1864910
MONDO:0012394	multiple synostoses syndrome 2	biolink:Disease	mondo	MESH:C537380|GARD:0009916|UMLS:C1832708|OMIM:610017	gard_rare	SYNS2|multiple synostoses syndrome type 2|multiple synostoses syndrome 2; SYNS2|multiple synostoses syndrome 2|multiple synostoses syndrome caused by mutation in GDF5|GDF5 multiple synostoses syndrome	http://purl.obolibrary.org/obo/MONDO_0012394	Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene.	MESH:C537380|UMLS:C1832708|http://identifiers.org/omim/610017
HP:0045014	Hypolipidemia	biolink:PhenotypicFeature	mondo	UMLS:C0342892|SNOMEDCT_US:238090007			http://purl.obolibrary.org/obo/HP_0045014		
MONDO:0002853	rectum rhabdomyosarcoma	biolink:Disease	mondo	UMLS:C1335687|DOID:4053|NCIT:C5627		rectum rhabdomyosarcoma (disease)|rhabdomyosarcoma (disease) of rectum|rhabdomyosarcoma of the rectum|rectal rhabdomyosarcoma|rhabdomyosarcoma of rectum	http://purl.obolibrary.org/obo/MONDO_0002853	A malignant mesenchymal tumor with skeletal muscle differentiation affecting the rectum.	NCIT:C5627|UMLS:C1335687|DOID:4053
MONDO:0002854	prostate sarcoma	biolink:Disease	mondo	NCIT:C7731|DOID:4054|UMLS:C0238393		prostate gland sarcoma|sarcoma of prostate|sarcoma of prostate gland|prostate sarcoma|sarcoma of the prostate	http://purl.obolibrary.org/obo/MONDO_0002854	A rare malignant soft tissue neoplasm that arises from the prostate gland. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and stromal sarcoma.	DOID:4054|NCIT:C7731|UMLS:C0238393
MONDO:0002855	ectomesenchymoma	biolink:Disease	mondo	GARD:0012279|DOID:4055|ICDO:8921/3|UMLS:C0431111|NCIT:C4716		rhabdomyosarcoma with ganglionic differentiation (morphologic abnormality)|malignant ectomesenchymoma|ectomesenchymoma|sarcoma with ganglionic or neuroectodermal differentiation|rhabdomyosarcoma with ganglionic differentiation	http://purl.obolibrary.org/obo/MONDO_0002855	An aggressive malignant mesenchymal neoplasm of the nervous system or soft tissues. It is characterized by the presence of a sarcomatous component (most often rhabdomyosarcoma) and a ganglionic or a neuroectodermal component.	DOID:4055|UMLS:C0431111|NCIT:C4716
MONDO:0002856	gallbladder rhabdomyosarcoma	biolink:Disease	mondo	NCIT:C5839|DOID:4057|UMLS:C1333756		rhabdomyosarcoma (disease) of gall bladder|gall bladder rhabdomyosarcoma (disease)|rhabdomyosarcoma of gallbladder|rhabdomyosarcoma of the gallbladder|gallbladder rhabdomyosarcoma|gall bladder rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0002856	A rhabdomyosarcoma that is located in the gallbladder.	UMLS:C1333756|DOID:4057|NCIT:C5839
HP:0011893	Abnormal leukocyte count	biolink:PhenotypicFeature	mondo	UMLS:C0580531|SNOMEDCT_US:165509000		Abnormal white blood cell count	http://purl.obolibrary.org/obo/HP_0011893	Number of leukocytes per volume of blood beyond normal limits.	
HP:0011895	Anemia due to reduced life span of red cells	biolink:PhenotypicFeature	mondo	UMLS:C4021112		Anaemia due to reduced life span of red cells	http://purl.obolibrary.org/obo/HP_0011895	A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days.	
MONDO:0002850	central nervous system rhabdomyosarcoma	biolink:Disease	mondo	DOID:4048|UMLS:C1332891|NCIT:C5464		rhabdomyosarcoma of the central nervous system|rhabdomyosarcoma (disease) of central nervous system|rhabdomyosarcoma of CNS|central nervous system rhabdomyosarcoma|CNS rhabdomyosarcoma|rhabdomyosarcoma of the CNS|central nervous system rhabdomyosarcoma (disease)|rhabdomyosarcoma of central nervous system	http://purl.obolibrary.org/obo/MONDO_0002850	A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the central nervous system.	UMLS:C1332891|NCIT:C5464|DOID:4048
MONDO:0002851	mediastinum rhabdomyosarcoma	biolink:Disease	mondo	DOID:4049|NCIT:C6617|UMLS:C1334677		mediastinum rhabdomyosarcoma (disease)|rhabdomyosarcoma of the mediastinum|rhabdomyosarcoma of mediastinum|rhabdomyosarcoma (disease) of mediastinum|mediastinal rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0002851	A malignant mesenchymal tumor with skeletal muscle differentiation affecting the mediastinum.	NCIT:C6617|UMLS:C1334677|DOID:4049
MONDO:0002852	mediastinum sarcoma	biolink:Disease	mondo	DOID:4050|NCIT:C6606|UMLS:C1334678		sarcoma of mediastinum|mediastinal sarcoma|mediastinum sarcoma|sarcoma of the mediastinum	http://purl.obolibrary.org/obo/MONDO_0002852	A rare sarcoma that arises from the mediastinum. Examples include liposarcoma, leiomyosarcoma, and angiosarcoma.	NCIT:C6606|UMLS:C1334678|DOID:4050
MONDO:0014839	chorea, childhood-onset, with psychomotor retardation	biolink:Disease	mondo	UMLS:C4310787|OMIM:616939		chorea, childhood-onset, with psychomotor retardation; COCPMR|chorea, childhood-onset, with psychomotor retardation|COCPMR	http://purl.obolibrary.org/obo/MONDO_0014839		UMLS:C4310787|http://identifiers.org/omim/616939
MONDO:0014838	Coffin-Siris syndrome 5	biolink:Disease	mondo	OMIM:616938|UMLS:C4310788		Coffin-Siris syndrome 5|Coffin-Siris syndrome type 5|Coffin-Siris syndrome caused by mutation in SMARCE1|CSS5|SMARCE1 Coffin-Siris syndrome|COFFIN-SIRIS syndrome 5; CSS5	http://purl.obolibrary.org/obo/MONDO_0014838	Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCE1 gene.	UMLS:C4310788|http://identifiers.org/omim/616938
MONDO:0014837	thrombocytopenia 6	biolink:Disease	mondo	OMIM:616937|UMLS:C4310789|Orphanet:480851	ordo_disease	thrombocytopenia type 6|thrombocytopenia 6; THC6|thrombocytopenia, autosomal dominant, 6|THC6|thrombocytopenia 6|hereditary thrombocytopenia with early-onset myelofibrosis	http://purl.obolibrary.org/obo/MONDO_0014837		UMLS:C4310789|ORPHA:480851|http://identifiers.org/omim/616937
MONDO:0014836	Charcot-Marie-Tooth disease axonal type 2CC	biolink:Disease	mondo	DOID:0110180|UMLS:C4310790|OMIM:616924		CMT2CC|Charcot-Marie-Tooth disease, axonal, type 2CC; CMT2CC|NEFH Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease caused by mutation in NEFH|Charcot-Marie-Tooth neuropathy type 2CC|Charcot-Marie-Tooth neuropathy, type 2Cc|Charcot-Marie-Tooth disease, axonal, type 2cc	http://purl.obolibrary.org/obo/MONDO_0014836	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NEFH gene.	UMLS:C4310790|DOID:0110180|http://identifiers.org/omim/616924
CHEBI:26421	pyridines	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_26421	Any organonitrogen heterocyclic compound based on a pyridine skeleton and its substituted derivatives.	
NCBITaxon:133423	Batillus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_133423		
MONDO:0014842	intellectual disability, autosomal dominant 41	biolink:Disease	mondo	OMIM:616944|UMLS:C4310784|DOID:0070071		autosomal dominant non-syndromic intellectual disability 41|autosomal dominant mental retardation 41|intellectual disability, autosomal dominant 41; MRD41|mental retardation, autosomal dominant 41|mental retardation, autosomal dominant type 41|MRD41|mental retardation, autosomal dominant 41; MRD41|autosomal dominant non-syndromic intellectual disability caused by mutation in TBL1XR1|intellectual disability, autosomal dominant 41|intellectual disability, autosomal dominant type 41|TBL1XR1 autosomal dominant non-syndromic intellectual disability|intellectual disability, autosomal dominant 41; MRD41|autosomal dominant intellectual disability 41	http://purl.obolibrary.org/obo/MONDO_0014842	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the TBL1XR1 gene.	http://identifiers.org/omim/616944|DOID:0070071|UMLS:C4310784
MONDO:0014841	trichothiodystrophy 6, nonphotosensitive	biolink:Disease	mondo	OMIM:616943|UMLS:C4310785		trichothiodystrophy 6, nonphotosensitive|trichothiodystrophy 6, nonphotosensitive; TTD6|TTD6|TTD6|nonphotosensitive trichothiodystrophy caused by mutation in GTF2E2|GTF2E2 nonphotosensitive trichothiodystrophy	http://purl.obolibrary.org/obo/MONDO_0014841	Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the GTF2E2 gene.	http://identifiers.org/omim/616943|UMLS:C4310785
HGNC:6357	KLK1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6357		
MONDO:0014840	agammaglobulinemia 8, autosomal dominant	biolink:Disease	mondo	OMIM:616941|UMLS:C4310786		TCF3 autosomal agammaglobulinemia|agammaglobulinemia, autosomal dominant, due to TCF3 defect|AGM8|AGM8|agammaglobulinemia 8, autosomal dominant|autosomal agammaglobulinemia caused by mutation in TCF3|agammaglobulinemia 8, autosomal dominant; AGM8	http://purl.obolibrary.org/obo/MONDO_0014840	Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the TCF3 gene.	http://identifiers.org/omim/616941|UMLS:C4310786
HGNC:15804	OVOL2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15804		
MONDO:0014846	autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency	biolink:Disease	mondo	UMLS:C4310780|DOID:0111613|OMIM:616949|ICD10:G11.1|Orphanet:404493	ordo_disease	spinocerebellar ataxia, autosomal recessive type 23|spinocerebellar ataxia autosomal recessive type 23|spinocerebellar ataxia, autosomal recessive 23; SCAR23|SCAR23|spinocerebellar ataxia, autosomal recessive 23	http://purl.obolibrary.org/obo/MONDO_0014846		DOID:0111613|ORPHA:404493|http://identifiers.org/omim/616949|UMLS:C4310780
MONDO:0014845	spinocerebellar ataxia, autosomal recessive 22	biolink:Disease	mondo	UMLS:C4310781|DOID:0111614|OMIM:616948		autosomal recessive cerebellar ataxia caused by mutation in VWA3B|SCAR22|spinocerebellar ataxia, autosomal recessive 22|spinocerebellar ataxia, autosomal recessive 22; SCAR22|VWA3B autosomal recessive cerebellar ataxia|spinocerebellar ataxia, autosomal recessive type 22	http://purl.obolibrary.org/obo/MONDO_0014845	Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the VWA3B gene.	DOID:0111614|http://identifiers.org/omim/616948|UMLS:C4310781
MONDO:0014844	premature ovarian failure 12	biolink:Disease	mondo	UMLS:C4310782|OMIM:616947		SYCE1 primary ovarian failure|primary ovarian failure caused by mutation in SYCE1|premature ovarian failure 12|premature ovarian failure type 12|POF12|premature ovarian failure 12; POF12	http://purl.obolibrary.org/obo/MONDO_0014844	Any primary ovarian failure in which the cause of the disease is a mutation in the SYCE1 gene.	http://identifiers.org/omim/616947|UMLS:C4310782
MONDO:0014843	premature ovarian failure 11	biolink:Disease	mondo	UMLS:C4310783|OMIM:616946		ERCC6 primary ovarian failure|primary ovarian failure caused by mutation in ERCC6|premature ovarian failure 11|premature ovarian failure type 11|premature ovarian failure 11; POF11|POF11	http://purl.obolibrary.org/obo/MONDO_0014843	Any primary ovarian failure in which the cause of the disease is a mutation in the ERCC6 gene.	http://identifiers.org/omim/616946|UMLS:C4310783
MONDO:0002846	granulomatous gastritis	biolink:Disease	mondo	DOID:4038|UMLS:C1112577|NCIT:C27348|ICD10:K29.6		granulomatous gastritis	http://purl.obolibrary.org/obo/MONDO_0002846	Gastritis that is associated with the presence of granulomas.	DOID:4038|NCIT:C27348|UMLS:C1112577
MONDO:0002847	skeletal muscle cancer	biolink:Disease	mondo	DOID:4043|UMLS:C1334619|NCIT:C6516		malignant skeletal muscle neoplasm|malignant skeletal muscle tissue neoplasm|malignant tumor of skeletal muscle|cancer of skeletal muscle tissue|malignant neoplasm of the skeletal muscle|malignant neoplasm of skeletal muscle|malignant skeletal muscle tumor|malignant neoplasm of skeletal muscle tissue|skeletal muscle tissue cancer|malignant tumor of the skeletal muscle	http://purl.obolibrary.org/obo/MONDO_0002847	A malignant neoplasm arising from skeletal muscle.	UMLS:C1334619|DOID:4043|NCIT:C6516
MONDO:0002848	skeletal muscle neoplasm	biolink:Disease	mondo	SCTID:699955004|NCIT:C6514|ICD9:239.2|UMLS:C1335971|DOID:4044		skeletal muscle tissue neoplasm (disease)|neoplasm of the skeletal muscle|tumor of skeletal muscle|neoplasm of skeletal muscle tissue|neoplasm of skeletal muscle|skeletal muscle tissue tumor|skeletal muscle tumor|skeletal muscle tissue neoplasm|tumor of the skeletal muscle|tumor of skeletal muscle tissue|skeletal muscle neoplasm	http://purl.obolibrary.org/obo/MONDO_0002848	A benign or malignant mesenchymal neoplasm arising from skeletal muscle.	UMLS:C1335971|DOID:4044|NCIT:C6514|SNOMEDCT:699955004
HGNC:6354	KLHL3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6354		
MONDO:0002849	liver rhabdomyosarcoma	biolink:Disease	mondo	UMLS:C1333975|DOID:4047|NCIT:C5834		rhabdomyosarcoma (disease) of liver|liver rhabdomyosarcoma|rhabdomyosarcoma of the liver|rhabdomyosarcoma of liver|hepatic rhabdomyosarcoma|liver rhabdomyosarcoma (disease)	http://purl.obolibrary.org/obo/MONDO_0002849	A malignant mesenchymal tumor with skeletal muscle differentiation affecting the liver.	UMLS:C1333975|DOID:4047|NCIT:C5834
NCBITaxon:348386	unclassified Lentivirus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_348386		
MONDO:0002864	anus rhabdomyosarcoma	biolink:Disease	mondo	UMLS:C1332276|DOID:4066|NCIT:C5610		rhabdomyosarcoma of the anus|rhabdomyosarcoma (disease) of anus|rhabdomyosarcoma of anus|anal rhabdomyosarcoma|anus rhabdomyosarcoma (disease)	http://purl.obolibrary.org/obo/MONDO_0002864	A malignant mesenchymal tumor with skeletal muscle differentiation affecting the anus.	NCIT:C5610|UMLS:C1332276|DOID:4066
MONDO:0000201	obsolete thyroid cancer, nonmedullary	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000201		
MONDO:0000200	Zimmermann-Laband syndrome	biolink:Disease	mondo	SCTID:699447001|Orphanet:3473|DC:0000708|ICD9:759.89|OMIMPS:135500|MESH:C536725|ICD10:Q87.8|UMLS:C0796013|GARD:0000385	prototype_pattern|ordo_malformation_syndrome	Zimmermann-Laband syndrome type 1|ZLS1|Laband syndrome|Zimmermann-Laband syndrome 1|Laband-Zimmermann syndrome|ZLS|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|gingival fibromatosis, abnormal fingers, fingernails, nose and ears, and splenomegaly|fibromatosis gingival, hepatosplenomegaly other anomalies|Zimmerman Laband syndrome	http://purl.obolibrary.org/obo/MONDO_0000200	Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.	MESH:C536725|SNOMEDCT:699447001|UMLS:C0796013|ORPHA:3473
MONDO:0002865	anus sarcoma	biolink:Disease	mondo	UMLS:C1332277|DOID:4067|NCIT:C5611		sarcoma of the anus|anal sarcoma|anus sarcoma|sarcoma of anus	http://purl.obolibrary.org/obo/MONDO_0002865	A malignant soft tissue neoplasm arising from the anus. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and Kaposi sarcoma.	NCIT:C5611|UMLS:C1332277|DOID:4067
MONDO:0002866	duodenal disease	biolink:Disease	mondo	UMLS:C0013289|ICD9:537.89|MESH:D004378|SCTID:52182008|DOID:4072|ICD9:537.9		duodenum disease or disorder|disorder of duodenum|duodenum disorder|disease of duodenum|disorder of duodenum|disease or disorder of duodenum|duodenum disease	http://purl.obolibrary.org/obo/MONDO_0002866	Pathological conditions in the duodenum region of the small intestine (intestine, small).	SNOMEDCT:52182008|MESH:D004378|UMLS:C0013289|DOID:4072
MONDO:0002867	pancreatic cystadenocarcinoma	biolink:Disease	mondo	SCTID:235966007|DOID:4073|UMLS:C0238337|NCIT:C3874		acinar cell cystadenocarcinoma|cystadenocarcinoma of pancreas|cystadenocarcinoma of the pancreas|pancreas cystadenocarcinoma|pancreatic cystadenocarcinoma|cystadenocarcinoma - pancreas	http://purl.obolibrary.org/obo/MONDO_0002867	A cystic adenocarcinoma that arises from the pancreas. It includes the acinar cell and serous cystadenocarcinoma subtypes.	SNOMEDCT:235966007|UMLS:C0238337|NCIT:C3874|DOID:4073
MONDO:0002860	testis rhabdomyosarcoma	biolink:Disease	mondo	UMLS:C1336726|NCIT:C6378|DOID:4061		rhabdomyosarcoma (disease) of testis|testicular rhabdomyosarcoma|rhabdomyosarcoma of testis|rhabdomyosarcoma of the testis|testis rhabdomyosarcoma (disease)	http://purl.obolibrary.org/obo/MONDO_0002860	A malignant mesenchymal tumor with skeletal muscle differentiation affecting the testis.	NCIT:C6378|UMLS:C1336726|DOID:4061
MONDO:0000205	obsolete radioulnar synostosis with amegakaryocytic thrombocytopenia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000205		
MONDO:0002861	testis sarcoma	biolink:Disease	mondo	UMLS:C1336727|DOID:4062|NCIT:C6359		sarcoma of testis|testis sarcoma|testicular sarcoma|sarcoma of the testis	http://purl.obolibrary.org/obo/MONDO_0002861	A sarcoma that arises from the testis. The majority of cases arise from teratomas or spermatocytic seminomas.	NCIT:C6359|UMLS:C1336727|DOID:4062
MONDO:0000204	obsolete skin creases, congenital symmetric circumferential	biolink:Disease	mondo	DC:0000715|OMIMPS:156610			http://purl.obolibrary.org/obo/MONDO_0000204		
MONDO:0002862	bile duct sarcoma	biolink:Disease	mondo	DOID:4064		sarcoma of bile duct|bile duct sarcoma|sarcoma of the bile duct	http://purl.obolibrary.org/obo/MONDO_0002862	A sarcoma that involves the bile duct.	DOID:4064
MONDO:0000203	obsolete Dehydrated hereditary stomatocytosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000203		
MONDO:0002863	rhabdomyosarcoma with mixed embryonal and alveolar features	biolink:Disease	mondo	UMLS:C0334481|DOID:4065|UMLS:C1709053|NCIT:C4259|ICDO:8902/3		mixed alveolar rhabdomyosarcoma|rhabdomyosarcoma with mixed embryonal and alveolar features|mixed type rhabdomyosarcoma|mixed embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma|mixed type alveolar rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0002863	A rhabdomyosarcoma composed of embryonic and alveolar components. It is characterized by the presence of spindle cells with myoblastic differentiation, a myxoid stroma, and fibrous septa. These tumors were previously considered variants of alveolar rhabdomyosarcoma. The lack of PAX3-FOXO1 fusions in most of these tumors suggests that are biologically and clinically related to embryonal rhabdomyosarcoma.	NCIT:C4259|UMLS:C1709053|UMLS:C0334481|DOID:4065
MONDO:0000202	obsolete Heimler syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000202		
MONDO:0014828	immunodeficiency-centromeric instability-facial anomalies syndrome 3	biolink:Disease	mondo	UMLS:C4310799|OMIM:616910|DOID:0090010|ICD10:D84.8		ICF syndrome 3|immunodeficiency-centromeric instability-Facial anomalies syndrome 3|immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in CDCA7|ICF3|immunodeficiency-centromeric instability-facial anomalies syndrome type 3|immunodeficiency-centromeric instability-FACIAL anomalies syndrome 3; ICF3|immunodeficiency-centromeric instability-Facial anomalies syndrome type 3|CDCA7 immunodeficiency-centromeric instability-facial anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0014828	Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the CDCA7 gene.	UMLS:C4310799|DOID:0090010|http://identifiers.org/omim/616910
MONDO:0014827	autosomal recessive spastic paraplegia type 76	biolink:Disease	mondo	DOID:0110821|EFO:0009019|OMIM:616907|Orphanet:488594|UMLS:C4310800	ordo_disease	hereditary spastic paraplegia type 76|autosomal recessive complex spastic paraplegia caused by mutation in CAPN1|spastic paraplegia 76, autosomal recessive; SPG76|CAPN1 autosomal recessive complex spastic paraplegia|SPG76|hereditary spastic paraplegia 76|spastic paraplegia 76, autosomal recessive|autosomal recessive spastic paraplegia 76	http://purl.obolibrary.org/obo/MONDO_0014827	Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration.	UMLS:C4310800|ORPHA:488594|DOID:0110821|http://identifiers.org/omim/616907
MONDO:0014826	nucleoside diphosphate-linked moiety X Motif 15 deficiency	biolink:Disease	mondo	OMIM:616903|UMLS:C4225160		Nudt15 deficiency|NUDT15D|THPM2|THIOPURINES, poor metabolism OF, 2; THPM2|nucleoside diphosphate-linked moiety X Motif 15 deficiency; NUDT15D|nucleoside diphosphate-linked moiety X Motif 15 deficiency|Thiopurines, poor metabolism Of, 2	http://purl.obolibrary.org/obo/MONDO_0014826		UMLS:C4225160|http://identifiers.org/omim/616903
MONDO:0014825	chromosome 11p13 deletion syndrome, distal	biolink:Disease	mondo	OMIM:616902|UMLS:C4311047			http://purl.obolibrary.org/obo/MONDO_0014825		UMLS:C4311047|http://identifiers.org/omim/616902
HGNC:15807	ZNF335	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15807		
MONDO:0014829	immunodeficiency-centromeric instability-facial anomalies syndrome 4	biolink:Disease	mondo	ICD10:D84.8|UMLS:C4310798|OMIM:616911|DOID:0090011		ICF syndrome 4|immunodeficiency-centromeric instability-Facial anomalies syndrome 4|ICF4|immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in HELLS|immunodeficiency-centromeric instability-facial anomalies syndrome type 4|immunodeficiency-centromeric instability-FACIAL anomalies syndrome 4; ICF4|immunodeficiency-centromeric instability-Facial anomalies syndrome type 4|HELLS immunodeficiency-centromeric instability-facial anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0014829	Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the HELLS gene.	UMLS:C4310798|DOID:0090011|http://identifiers.org/omim/616911
HGNC:15808	GZF1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15808		
MONDO:0014831	progeroid and marfanoid aspect-lipodystrophy syndrome	biolink:Disease	mondo	OMIM:616914|Orphanet:300382|UMLS:C4310796|ICD10:E88.1	ordo_disease	MFLS|Marfanoid-progeroid syndrome|Marfan-progeroid-lipodystrophy syndrome|Marfan lipodystrophy syndrome|Marfan lipodystrophy syndrome; MFLS	http://purl.obolibrary.org/obo/MONDO_0014831		ORPHA:300382|http://identifiers.org/omim/616914|UMLS:C4310796
MONDO:0014830	platelet-type bleeding disorder 20	biolink:Disease	mondo	OMIM:616913|DOID:0111055|UMLS:C4310797|Orphanet:466806	ordo_disease	inherited bleeding disorder, platelet-type caused by mutation in SLFN14|autosomal dominant thrombocytopenia with platelet secretion defect|bleeding disorder, platelet-type, 20; BDPLT20|BDPLT20|SLFN14 inherited bleeding disorder, platelet-type|bleeding disorder, platelet-type, 20	http://purl.obolibrary.org/obo/MONDO_0014830	Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the SLFN14 gene.	DOID:0111055|ORPHA:466806|http://identifiers.org/omim/616913|UMLS:C4310797
MONDO:0014835	striatal degeneration, autosomal dominant 2	biolink:Disease	mondo	OMIM:616922|UMLS:C4310791		striatal Degeneration, autosomal dominant type 2|striatal degeneration, autosomal dominant caused by mutation in PDE10A|striatal degeneration, autosomal dominant 2; ADSD2|striatal Degeneration, autosomal dominant 2|PDE10A striatal degeneration, autosomal dominant|ADSD2	http://purl.obolibrary.org/obo/MONDO_0014835	Any striatal degeneration, autosomal dominant in which the cause of the disease is a mutation in the PDE10A gene.	UMLS:C4310791|http://identifiers.org/omim/616922
MONDO:0014834	dyskinesia, limb and orofacial, infantile-onset	biolink:Disease	mondo	UMLS:C4310792|OMIM:616921		dyskinesia, limb and orofacial, infantile-onset; IOLOD|dyskinesia, limb and orofacial, infantile-onset|IOLOD	http://purl.obolibrary.org/obo/MONDO_0014834		UMLS:C4310792|http://identifiers.org/omim/616921
CHEBI:38418	1,3-thiazoles	biolink:ChemicalSubstance	mondo			1,3-thiazoles	http://purl.obolibrary.org/obo/CHEBI_38418		
MONDO:0014833	heart and brain malformation syndrome	biolink:Disease	mondo	UMLS:C4310793|OMIM:616920		heart and brain malformation syndrome; HBMS|HBMS|HBMS|heart and brain malformation syndrome	http://purl.obolibrary.org/obo/MONDO_0014833		UMLS:C4310793|http://identifiers.org/omim/616920
MONDO:0014832	intellectual disability, autosomal recessive 53	biolink:Disease	mondo	UMLS:C4310794|Orphanet:488635|OMIM:616917	ordo_disease	early-onset epilepsy-intellectual disability-brain anomalies syndrome|mental retardation, autosomal recessive type 53|mental retardation, autosomal recessive 53; MRT53|intellectual disability, autosomal recessive type 53|PIGG-CDG|intellectual disability, autosomal recessive 53; MRT53|GPIBD13|congenital disorder of glycosylation due to PIGG deficiency|glycosylphosphatidylinositol biosynthesis defect 13|mental retardation, autosomal recessive 53|intellectual disability, autosomal recessive 53|MRT53	http://purl.obolibrary.org/obo/MONDO_0014832		ORPHA:488635|http://identifiers.org/omim/616917|UMLS:C4310794
MONDO:0002857	gallbladder sarcoma	biolink:Disease	mondo	UMLS:C1333757|NCIT:C5736|DOID:4058		sarcoma of gall bladder|sarcoma of the gallbladder|gallbladder sarcoma|sarcoma of gallbladder|malignant mesenchymal tumor of gallbladder|gall bladder sarcoma	http://purl.obolibrary.org/obo/MONDO_0002857	A malignant soft tissue neoplasm that arises from the gallbladder. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma.	UMLS:C1333757|DOID:4058|NCIT:C5736
MONDO:0002858	ovary rhabdomyosarcoma	biolink:Disease	mondo	DOID:4059|NCIT:C5236|UMLS:C1335176		rhabdomyosarcoma (disease) of ovary|rhabdomyosarcoma of the ovary|ovarian rhabdomyosarcoma|rhabdomyosarcoma of ovary|ovary rhabdomyosarcoma (disease)	http://purl.obolibrary.org/obo/MONDO_0002858	A malignant mesenchymal tumor with skeletal muscle differentiation affecting the ovaries.	DOID:4059|NCIT:C5236|UMLS:C1335176
MONDO:0002859	breast rhabdomyosarcoma	biolink:Disease	mondo	UMLS:C1332637|NCIT:C5190|DOID:4060		rhabdomyosarcoma of the breast|rhabdomyosarcoma of breast|breast rhabdomyosarcoma (disease)|rhabdomyosarcoma (disease) of breast|breast rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0002859	A malignant mesenchymal tumor with skeletal muscle differentiation affecting the breast.	DOID:4060|UMLS:C1332637|NCIT:C5190
HGNC:6365	KLK4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6365		
MONDO:0002831	non-keratinizing sinonasal squamous cell carcinoma	biolink:Disease	mondo	UMLS:C0334270|NCIT:C54287|DOID:4003|ICDO:8121/3|ONCOTREE:SNSC		Sinonasal cylindrical cell carcinoma|cylindrical cell carcinoma|Schneiderian carcinoma|Sinonasal Schneiderian carcinoma|sinonasal squamous cell carcinoma|Sinonasal transitional cell carcinoma|Ringertz carcinoma|non-keratinizing sinonasal squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002831	A squamous cell carcinoma of the sinonasal tract characterized by a plexiform or ribbon-like growth pattern, cytological atypia, and lack of histological evidence of keratinization.	DOID:4003|UMLS:C0334270|NCIT:C54287
MONDO:0002832	endometrial transitional cell carcinoma	biolink:Disease	mondo	DOID:4005|NCIT:C40154|UMLS:C1516864		endometrial transitional cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002832	A rare primary carcinoma of the endometrium characterized by the presence of malignant epithelial cells resembling urothelial transitional cells. The malignant transitional cells constitute at least 90% of the tumor cells.	DOID:4005|UMLS:C1516864|NCIT:C40154
MONDO:0002833	fallopian tube transitional cell carcinoma	biolink:Disease	mondo	DOID:4008|UMLS:C1517128|NCIT:C40104		fallopian tube transitional cell carcinoma|fallopian tube transitional cell cancer	http://purl.obolibrary.org/obo/MONDO_0002833	A rare transitional cell carcinoma that arises from the fallopian tube.	DOID:4008|UMLS:C1517128|NCIT:C40104
MONDO:0002834	primary prostate urothelial carcinoma	biolink:Disease	mondo	UMLS:C1514430|NCIT:C39898|DOID:4011		primary prostate urothelial cancer|prostate transitional cell carcinoma|primary prostate urothelial carcinoma|prostate urothelial carcinoma|prostate gland transitional cell carcinoma|transitional cell carcinoma of prostate|transitional cell carcinoma of the prostate	http://purl.obolibrary.org/obo/MONDO_0002834	An urothelial carcinoma that arises from the urothelial lining of the prostatic ducts or the prostatic urethra.	UMLS:C1514430|DOID:4011|NCIT:C39898
HP:0011873	Abnormal platelet count	biolink:PhenotypicFeature	mondo	UMLS:C0580317|SNOMEDCT_US:165558001			http://purl.obolibrary.org/obo/HP_0011873	Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood.	
MONDO:0002830	obsolete ovary transitional cell carcinoma	biolink:Disease	mondo			ovary transitional cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002830		
MONDO:0014817	nephrotic syndrome, type 12	biolink:Disease	mondo	OMIM:616892|DOID:0080387|UMLS:C4225166		nephrotic syndrome, type 12|nephrotic syndrome, type 12; NPHS12|NUP93 familial nephrotic syndrome|familial nephrotic syndrome caused by mutation in NUP93|NPHS12	http://purl.obolibrary.org/obo/MONDO_0014817	Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene.	http://identifiers.org/omim/616892|DOID:0080387|UMLS:C4225166
MONDO:0014816	split-foot malformation-mesoaxial polydactyly syndrome	biolink:Disease	mondo	OMIM:616890|UMLS:C4225167|Orphanet:488232	ordo_malformation_syndrome	split-foot malformation with mesoaxial polydactyly; SFMMP|split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome|split-foot malformation with mesoaxial polydactyly|SFMMP	http://purl.obolibrary.org/obo/MONDO_0014816		http://identifiers.org/omim/616890|UMLS:C4225167|ORPHA:488232
MONDO:0014815	intellectual disability, autosomal recessive 52	biolink:Disease	mondo	UMLS:C4225168|OMIM:616887		mental retardation, autosomal recessive type 52|autosomal recessive non-syndromic intellectual disability caused by mutation in LMAN2L|mental retardation, autosomal recessive 52; MRT52|intellectual disability, autosomal recessive type 52|intellectual disability, autosomal recessive 52; MRT52|LMAN2L autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive 52|intellectual disability, autosomal recessive 52|MRT52	http://purl.obolibrary.org/obo/MONDO_0014815	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LMAN2L gene.	UMLS:C4225168|http://identifiers.org/omim/616887
MONDO:0014814	advanced sleep phase syndrome 3	biolink:Disease	mondo	OMIM:616882|UMLS:C4225169|DOID:0110013		familial advanced sleep phase syndrome 3|advanced sleep phase syndrome, familial, 3|FASPS3|advanced sleep phase syndrome caused by mutation in PER3|advanced sleep phase syndrome type 3|PER3 advanced sleep phase syndrome|advanced sleep phase syndrome, familial, 3; FASPS3|advanced sleep phase syndrome, familial, type 3	http://purl.obolibrary.org/obo/MONDO_0014814	Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER3 gene.	UMLS:C4225169|DOID:0110013|http://identifiers.org/omim/616882
MONDO:0014819	autosomal dominant Robinow syndrome 3	biolink:Disease	mondo	DOID:0060767|OMIM:616894|UMLS:C4225164|ICD10:Q87.1		Robinow syndrome, autosomal dominant 3; DRS3|Robinow syndrome caused by mutation in DVL3|DVL3 Robinow syndrome|DRS3|Robinow syndrome, autosomal dominant type 3|autosomal dominant Robinow syndrome type 3|Robinow syndrome, autosomal dominant 3	http://purl.obolibrary.org/obo/MONDO_0014819	Any Robinow syndrome in which the cause of the disease is a mutation in the DVL3 gene.	http://identifiers.org/omim/616894|UMLS:C4225164|DOID:0060767
MONDO:0014818	nephrotic syndrome, type 13	biolink:Disease	mondo	UMLS:C4225165|DOID:0080381|OMIM:616893		nephrotic syndrome, type 13|familial nephrotic syndrome caused by mutation in NUP205|nephrotic syndrome, type 13; NPHS13|NPHS13|NUP205 familial nephrotic syndrome	http://purl.obolibrary.org/obo/MONDO_0014818	Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP205 gene.	http://identifiers.org/omim/616893|DOID:0080381|UMLS:C4225165
UBERON:0011695	embryonic cardiovascular system	biolink:AnatomicalEntity	mondo			conceptus cardiovascular system|embryonic circulatory system|fetal circulatory system	http://purl.obolibrary.org/obo/UBERON_0011695	A cardiovascular system that is part of a conceptus.	
MONDO:0014820	mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)	biolink:Disease	mondo	OMIM:616896|UMLS:C4225163|DOID:0080336		mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type); MTDPS14|OPA1 mitochondrial DNA depletion syndrome|mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)|MTDPS14|mitochondrial DNA depletion syndrome caused by mutation in OPA1	http://purl.obolibrary.org/obo/MONDO_0014820	Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the OPA1 gene.	DOID:0080336|UMLS:C4225163|http://identifiers.org/omim/616896
MONDO:0014824	craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	biolink:Disease	mondo	Orphanet:459061|UMLS:C4310801|OMIM:616901	ordo_malformation_syndrome	Loucks-Innes syndrome|developmental delay-short stature-dysmorphic features-sparse hair syndrome|developmental delay with short stature, dysmorphic features, and sparse hair; DEDSSH|developmental delay with short stature, dysmorphic features, and sparse hair|DEDSSH	http://purl.obolibrary.org/obo/MONDO_0014824		UMLS:C4310801|ORPHA:459061|http://identifiers.org/omim/616901
MONDO:0014823	TBCK-related intellectual disability syndrome	biolink:Disease	mondo	Orphanet:488632|OMIM:616900|UMLS:C4225161	ordo_malformation_syndrome	hypotonia, infantile, with psychomotor retardation and characteristic facies 3; IHPRF3|IHPRF3|hypotonia, infantile, with psychomotor retardation and characteristic facies type 3|hypotonia, infantile, with psychomotor retardation and characteristic facies 3	http://purl.obolibrary.org/obo/MONDO_0014823	TBCK-related intellectual disability syndrome is a rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features.	UMLS:C4225161|ORPHA:488632|http://identifiers.org/omim/616900
MONDO:0014822	15q14 microdeletion syndrome	biolink:Disease	mondo	OMIM:616898|SCTID:719575008|UMLS:C4225666|UMLS:C4305230|ICD10:Q93.5|Orphanet:261190	ordo_malformation_syndrome	chromosome 15q14 deletion syndrome|monosomy 15q14|Del(15)(q14)	http://purl.obolibrary.org/obo/MONDO_0014822	15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.	UMLS:C4305230|SNOMEDCT:719575008|UMLS:C4225666|http://identifiers.org/omim/616898|ORPHA:261190
MONDO:0014821	complex lethal osteochondrodysplasia	biolink:Disease	mondo	ICD10:Q78.8|OMIM:616897|Orphanet:457378|UMLS:C4225162	ordo_malformation_syndrome	osteochondrodysplasia, COMPLEX lethal, Symoens-Barnes-Gistelinck type; OCLSBG|OCLSBG|Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type|osteochondrodysplasia, Complex lethal, Symoens-Barnes-Gistelinck type	http://purl.obolibrary.org/obo/MONDO_0014821		UMLS:C4225162|ORPHA:457378|http://identifiers.org/omim/616897
MONDO:0002828	Bartholin gland transitional cell carcinoma	biolink:Disease	mondo	DOID:3998|UMLS:C1511053|NCIT:C40297		Bartholin gland transitional cell carcinoma|major vestibular gland transitional cell carcinoma|Bartholin's gland transitional cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002828	A rare carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant urothelial-type epithelial cells.	NCIT:C40297|UMLS:C1511053|DOID:3998
MONDO:0002829	bartholin gland carcinoma	biolink:Disease	mondo	HP:0030419|UMLS:C0349561|DOID:3999|EFO:1000103|DOID:60003|NCIT:C9055|SCTID:276876007		Bartholin gland carcinoma (disease)|Bartholin's gland carcinoma|Bartholin gland cancer|carcinoma of Bartholin's gland|bartholin gland carcinoma|carcinoma of the Bartholin's gland|Bartholin's gland cancer|carcinoma of major vestibular gland|major vestibular gland carcinoma	http://purl.obolibrary.org/obo/MONDO_0002829	A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma.	SNOMEDCT:276876007|NCIT:C9055|DOID:60003|DOID:3999|UMLS:C0349561
HGNC:6371	KLKB1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6371		
MONDO:0002824	extrinsic cardiomyopathy	biolink:Disease	mondo	SCTID:195029002|DOID:3978|ICD9:425.8		secondary cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0002824	A cardiomyopathy that is not due to abnormalities in heart muscle cells.	DOID:3978|SNOMEDCT:195029002
MONDO:0002825	obsolete Meige syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002825		
MONDO:0002826	obsolete tuberculosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002826		
MONDO:0002827	obsolete urinary system cancer	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002827		
MONDO:0002842	bacterial gastritis	biolink:Disease	mondo	UMLS:C0948039|NCIT:C27340|SCTID:723096000|DOID:4033		Bacteria caused gastritis (disease)|Bacteria gastritis (disease)|bacterial gastritis	http://purl.obolibrary.org/obo/MONDO_0002842	Gastritis resulting from bacteria.	DOID:4033|NCIT:C27340|SNOMEDCT:723096000|UMLS:C0948039
MONDO:0002843	fungal gastritis	biolink:Disease	mondo	UMLS:C0948638|SCTID:723097009|NCIT:C27342|DOID:4034		Fungi gastritis (disease)|fungal gastritis|Fungi caused gastritis (disease)	http://purl.obolibrary.org/obo/MONDO_0002843	Gastritis resulting from fungi.	DOID:4034|NCIT:C27342|SNOMEDCT:723097009|UMLS:C0948638
MONDO:0002844	lymphocytic gastritis	biolink:Disease	mondo	DOID:4035|NCIT:C27051|ICD9:535.40|UMLS:C1283271|SCTID:360375007		lymphocytic gastritis	http://purl.obolibrary.org/obo/MONDO_0002844		UMLS:C1283271|DOID:4035|NCIT:C27051|SNOMEDCT:360375007
MONDO:0002845	necrotizing gastritis	biolink:Disease	mondo	UMLS:C0877152|DOID:4037|NCIT:C27329		necrotizing gastritis	http://purl.obolibrary.org/obo/MONDO_0002845	A variant of phlegmonous gastritis, typically progressing to gastric gangrene.	DOID:4037|UMLS:C0877152|NCIT:C27329
MONDO:0002840	eosinophilic gastritis	biolink:Disease	mondo	SCTID:66329006|COHD:195309|ICD9:535.70|ICD9:535.7|UMLS:C0267154|ICD9:535.40|DOID:4030|NCIT:C27052		eosinophilic gastritis	http://purl.obolibrary.org/obo/MONDO_0002840	An eosinophilic gastroenteritis that is characterized by inflammation of the stomach.	DOID:4030|NCIT:C27052|UMLS:C0267154|SNOMEDCT:66329006
MONDO:0002841	obsolete eosinophilic gastroenteritis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002841		
MONDO:0014806	spinal muscular atrophy with congenital bone fractures 1	biolink:Disease	mondo	GARD:0004947|UMLS:C1849101|OMIM:616866|OMIM:271225|UMLS:C4225177|MESH:C564805		spinal muscular atrophy with congenital bone fractures type 1|spinal muscular atrophy with congenital bone fractures 1; SMABF1|SMABF1|spinal muscular atrophy type 1 with congenital bone fractures|spinal muscular atrophy, type I, with congenital bone fractures|spinal muscular atrophy with congenital bone fractures 1|SMA1 with congenital bone fractures|TRIP4 prenatal-onset spinal muscular atrophy with congenital bone fractures|prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in TRIP4	http://purl.obolibrary.org/obo/MONDO_0014806	Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the TRIP4 gene.	http://identifiers.org/omim/616866|UMLS:C4225177|http://identifiers.org/omim/271225|UMLS:C1849101|MESH:C564805
GO:0097060	synaptic membrane	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0097060	A specialized area of membrane on either the presynaptic or the postsynaptic side of a synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell.	
MONDO:0014805	16p13.2 microdeletion syndrome	biolink:Disease	mondo	Orphanet:500055|UMLS:C4225667|OMIM:616863	ordo_malformation_syndrome	Del(16)(p13.2)|chromosome 16P13.2 deletion syndrome|chromosome 16p13.2 deletion syndrome|monosomy 16p13.2	http://purl.obolibrary.org/obo/MONDO_0014805		http://identifiers.org/omim/616863|ORPHA:500055|UMLS:C4225667
MONDO:0014804	sideroblastic anemia 3	biolink:Disease	mondo	SCTID:720465002|OMIM:616860|DOID:0080343|Orphanet:255132|ICD10:D64.0	ordo_disease	GLRX5-related sideroblastic anemia|anemia, sideroblastic, 3, pyridoxine-refractory; SIDBA3|adult-onset autosomal recessive sideroblastic anemia|SIDBA3|anemia, sideroblastic, 3, pyridoxine-refractory	http://purl.obolibrary.org/obo/MONDO_0014804		http://identifiers.org/omim/616860|ORPHA:255132|DOID:0080343|SNOMEDCT:720465002
CL:1001319	bladder cell	biolink:Cell	mondo	KUPO:0001120			http://purl.obolibrary.org/obo/CL_1001319		
MONDO:0014803	spasticity-ataxia-gait anomalies syndrome	biolink:Disease	mondo	OMIM:616859|Orphanet:401866|ICD10:E88.8|UMLS:C4225178	ordo_disease	SPAHGC|childhood-onset spasticity with variant non-ketotic hyperglycinemia|spasticity, childhood-onset, with hyperglycinemia|spasticity, childhood-onset, with hyperglycinemia; SPAHGC|childhood-onset spasticity with hyperglycinemia	http://purl.obolibrary.org/obo/MONDO_0014803		http://identifiers.org/omim/616859|ORPHA:401866|UMLS:C4225178
MONDO:0014809	DDX41-related hematologic malignancy predisposition syndrome	biolink:Disease	mondo	Orphanet:488647|OMIM:616871	ordo_disease	DDX41 hereditary neoplastic syndrome|MPLPF|susceptibility to familial (multiple types) myeloproliferative/lymphoproliferative neoplasms|hereditary neoplastic syndrome caused by mutation in DDX41|myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to; MPLPF|myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to	http://purl.obolibrary.org/obo/MONDO_0014809	Any hereditary neoplastic syndrome in which the cause of the disease is a mutation in the DDX41 gene.	http://identifiers.org/omim/616871|ORPHA:488647
MONDO:0014808	congenital secretory sodium diarrhea 8	biolink:Disease	mondo	OMIM:616868|DOID:0060777|UMLS:CN515063|ICD10:P78.3		diarrhea 8, secretory sodium, congenital|secretory diarrhea caused by mutation in SLC9A3|DIAR8|diarrhea 8, secretory sodium, congenital; DIAR8|congenital secretory sodium diarrhea type 8|diarrhea, congenital sodium|SLC9A3 secretory diarrhea	http://purl.obolibrary.org/obo/MONDO_0014808	Any secretory diarrhea in which the cause of the disease is a mutation in the SLC9A3 gene.	DOID:0060777|http://identifiers.org/omim/616868|UMLS:CN515063
MONDO:0014807	spinal muscular atrophy with congenital bone fractures 2	biolink:Disease	mondo	OMIM:616867|UMLS:C4225176		spinal muscular atrophy with congenital bone fractures type 2|spinal muscular atrophy with congenital bone fractures 2; SMABF2|SMABF2|spinal muscular atrophy with congenital bone fractures 2|ASCC1 prenatal-onset spinal muscular atrophy with congenital bone fractures|prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in ASCC1	http://purl.obolibrary.org/obo/MONDO_0014807	Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the ASCC1 gene.	http://identifiers.org/omim/616867|UMLS:C4225176
UBERON:0011679	proximal tarsal bone	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011679	A tarsal bone that connected_to a hindlimb zeugopod skeleton.	
UBERON:0011677	trunk vertebra	biolink:AnatomicalEntity	mondo			presacral vertebra|thoracolumbar vertebra	http://purl.obolibrary.org/obo/UBERON_0011677	A vertebra in the trunk region. For tetrapods, includes lumbar and thoracic vertebrae. Excludes caudal/coccygeal vertebra, which are located posteriorly. In tetrapods this includes thoracic, lumbar and sacral vertebrae, and excludes the cervical vertebrae, which are located anteriorly.	
MONDO:0014813	hypomyelinating leukodystrophy 13	biolink:Disease	mondo	UMLS:C4225170|DOID:0060795|OMIM:616881		HIKESHI leukodystrophy|hikeshi leukodystrophy|hypomyelinating leukodystrophy type 13|HLD13|leukodystrophy, hypomyelinating, 13; HLD13|leukodystrophy caused by mutation in HIKESHI|leukodystrophy, hypomyelinating, 13|leukodystrophy caused by mutation in hikeshi|leukodystrophy, hypomyelinating, type 13	http://purl.obolibrary.org/obo/MONDO_0014813	Any leukodystrophy in which the cause of the disease is a mutation in the HIKESHI gene.	UMLS:C4225170|DOID:0060795|http://identifiers.org/omim/616881
MONDO:0014812	metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	biolink:Disease	mondo	GARD:0013423|OMIM:616878|UMLS:C4225171		metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, Cardiac arrhythmias, and neurodegeneration|transport and golgi organization protein 2 (TANGO2) deficiency|metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration; MECRCN|TANGO2 deficiency|MECRCN	http://purl.obolibrary.org/obo/MONDO_0014812		UMLS:C4225171|http://identifiers.org/omim/616878
MONDO:0014811	cerebellar atrophy, visual impairment, and psychomotor retardation;	biolink:Disease	mondo	OMIM:616875|UMLS:C4225172		cerebellar atrophy, visual impairment, and psychomotor retardation|cerebellar atrophy, visual impairment, and psychomotor retardation; CAVIPMR|CAVIPMR	http://purl.obolibrary.org/obo/MONDO_0014811		UMLS:C4225172|http://identifiers.org/omim/616875
MONDO:0014810	pancytopenia due to IKZF1 mutations	biolink:Disease	mondo	ICD10:D81.8|Orphanet:317473|OMIM:616873|UMLS:C4225173	ordo_disease	IKZF1 syndrome with combined immunodeficiency|Cid due to IKAROS deficiency|immunodeficiency, common variable, type 13|syndrome with combined immunodeficiency caused by mutation in IKZF1|combined immunodeficiency due to IKAROS deficiency|immunodeficiency, common variable, 13|immunodeficiency, common variable, 13; CVID13|CVID13	http://purl.obolibrary.org/obo/MONDO_0014810	Any syndrome with combined immunodeficiency in which the cause of the disease is a mutation in the IKZF1 gene.	ORPHA:317473|UMLS:C4225173|http://identifiers.org/omim/616873
MONDO:0002839	leather-bottle stomach	biolink:Disease	mondo	ICDO:8142/3|MESH:D008039|NCIT:C3190|UMLS:C0023743|DOID:4023		linitis plastica (morphologic abnormality)|linitis plastica	http://purl.obolibrary.org/obo/MONDO_0002839	A cancer-related condition in which the gastric wall becomes thickened and rubbery (leather-bottle stomach). It is most often associated with diffuse gastric adenocarcinomas.	NCIT:C3190|MESH:D008039|DOID:4023|UMLS:C0023743
HGNC:6383	KNG1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6383		
MONDO:0002835	obsolete papillary transitional carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002835		
OBI:0100026	organism	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/OBI_0100026	A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs.	
MONDO:0002836	urethra transitional cell carcinoma	biolink:Disease	mondo	UMLS:C0863015|NCIT:C6166|ONCOTREE:UCU|DOID:4013		urethral urothelial carcinoma|UCU|transitional cell carcinoma of the urethra|urethra transitional cell carcinoma|transitional cell carcinoma of urethra|urethral transitional cell carcinoma|urethral urothelial cancer	http://purl.obolibrary.org/obo/MONDO_0002836	A transitional cell carcinoma that arises from the male or female urethra.	DOID:4013|NCIT:C6166|UMLS:C0863015
MONDO:0002837	sarcomatoid transitional cell carcinoma	biolink:Disease	mondo	NCIT:C4120|ICDO:8122/3|DOID:4014|UMLS:C0334271		transitional cell carcinoma, sarcomatoid|transitional cell spindle cell carcinoma|transitional spindle cell carcinoma|sarcomatoid transitional cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002837	A poorly differentiated transitional cell carcinoma characterized by the presence of malignant cells with spindle cell morphologic features.	DOID:4014|NCIT:C4120|UMLS:C0334271
MONDO:0002838	obsolete spindle cell carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002838		
HGNC:6388	KIF11	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6388		
MONDO:0002897	secondary syphilis	biolink:Disease	mondo	ICD9:091.9|COHD:437787|UMLS:C0343676|NCIT:C128413|MESH:C536773|UMLS:C0149985|SCTID:240557004|ICD9:091.89|DOID:4157		secondary syphilis of viscera or bone	http://purl.obolibrary.org/obo/MONDO_0002897	The secondary stage of syphilis typically that is characterized by generalized rash (including palms and soles), mucocutaneous lesions, and lymphadenopathy. It usually begins one to two months after the primary stage.	SNOMEDCT:240557004|UMLS:C0149985|DOID:4157|NCIT:C128413|UMLS:C0343676|MESH:C536773
MONDO:0000234	Rickettsia parkeri spotted fever	biolink:Disease	mondo	DOID:0050051		maculatum infection	http://purl.obolibrary.org/obo/MONDO_0000234	A spotted fever that has material basis in Rickettsia parkeri, which is transmitted by Gulf Coast tick (Amblyomma maculatum). The infection has symptom fever, has symptom headache, has symptom eschar, and has symptom rash.	DOID:0050051
MONDO:0002898	skin cancer	biolink:Disease	mondo	COHD:4155297|SCTID:372130007|ICD9:173.9|ICD9:173.8|UMLS:C0007114|GARD:0010421|ICD10:C43.C44|DOID:4159|NCIT:C2920		CA - skin cancer|malignant neoplasm of skin|malignant tumor of skin|skin cancer, Including melanoma|malignant tumor of the skin|skin cancer|skin neoplasm, malignant|cancer of zone of skin|skin cancer, NOS|zone of skin cancer|malignant neoplasm of the skin|malignant skin tumor|melanoma and non-melanoma skin cancer|cancer of skin|malignant skin neoplasm|malignant zone of skin neoplasm|malignant neoplasm of zone of skin	http://purl.obolibrary.org/obo/MONDO_0002898	A malignant neoplasm involving the zone of skin	SNOMEDCT:372130007|NCIT:C2920|DOID:4159|UMLS:C0007114
MONDO:0000233	Japanese spotted fever	biolink:Disease	mondo	UMLS:C2108396|DOID:0050050		Japanese spotted fevers|oriental spotted fever|Japanese spotted fever|Rickettsia japonica spotted fever|fever, Japanese spotted|spotted fever, Japanese|fevers, Japanese spotted	http://purl.obolibrary.org/obo/MONDO_0000233	A spotted fever that has material basis in Rickettsia japonica, which is transmitted by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has symptom fever, has symptom eschars, has symptom regional adenopathy, and has symptom rash on extremities.	UMLS:C2108396|DOID:0050050
MONDO:0000232	Flinders island spotted fever	biolink:Disease	mondo	UMLS:C4505102|DOID:0050047		Thai tick typhus|FISF	http://purl.obolibrary.org/obo/MONDO_0000232	A spotted fever that has material basis in Rickettsia honei, which is transmitted by cayenne ticks (Amblyomma cajennense). The infection has symptom mild spotted fever, has symptom eschar and has symptom adenopathy.	UMLS:C4505102|DOID:0050047
MONDO:0002899	differentiating neuroblastoma	biolink:Disease	mondo	UMLS:C1511934|DOID:4160|NCIT:C42048		differentiating neuroblastoma	http://purl.obolibrary.org/obo/MONDO_0002899	A neuroblastoma in which the differentiating neuroblasts constitute more than five-percent of the tumor cells.	UMLS:C1511934|NCIT:C42048|DOID:4160
NCBITaxon:4734	commelinids	organism taxon	mondo	PMID:26350789|GC_ID:1		Commeliniflorae|Commelinidae	http://purl.obolibrary.org/obo/NCBITaxon_4734		
MONDO:0000231	Far eastern spotted fever	biolink:Disease	mondo	UMLS:C3532354|SCTID:472822008|DOID:0050046		Rickettsia heilongjiangensis spotted fever	http://purl.obolibrary.org/obo/MONDO_0000231		SNOMEDCT:472822008|UMLS:C3532354|DOID:0050046
MONDO:0000238	pestis minor	biolink:Disease	mondo	MEDGEN:546803|UMLS:C0275757|ICD9:020.8|SCTID:186287003		ambulatory plague|larval plague|pestis minor|abortive plague	http://purl.obolibrary.org/obo/MONDO_0000238	A mild form of bubonic plague characterized by symptoms such as mild fever and lymphadenitis.	SNOMEDCT:186287003|UMLS:C0275757
MONDO:0002893	obsolete chondroid chordoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002893		
MONDO:0002894	spinal chordoma	biolink:Disease	mondo	DOID:4153|UMLS:C1859101|EFO:1000543|NCIT:C5156		spinal column chordoma|chordoma of spine|chordoma of the spinal column|spinal chordoma|chordoma of spinal column|spinal Chordomas	http://purl.obolibrary.org/obo/MONDO_0002894	A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells.	UMLS:C1859101|DOID:4153|NCIT:C5156
MONDO:0000237	erysipeloid	biolink:Disease	mondo	UMLS:C1276801|DOID:0050061|SCTID:400105005|MESH:D004887|ICD10:A26			http://purl.obolibrary.org/obo/MONDO_0000237	An infection caused by Erysipelothrix rhusiopathiae that is almost wholly restricted to persons who in their occupation handle infected fish, shellfish, poultry, or meat. Three forms of this condition exist: a mild localized form manifested by local swelling and redness of the skin; a diffuse form that might present with fever; and a rare systemic form associated with endocarditis.	UMLS:C1276801|MESH:D004887|SNOMEDCT:400105005|DOID:0050061
MONDO:0002895	obsolete dentinogenesis imperfecta	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002895		
MONDO:0000236	oropharyngeal anthrax	biolink:Disease	mondo	DOID:0050059		oropharynx anthrax infection	http://purl.obolibrary.org/obo/MONDO_0000236	A anthrax infection that involves the oropharynx.	DOID:0050059
MONDO:0002896	primary syphilis	biolink:Disease	mondo	SCTID:186846005|MESH:C536772|NCIT:C128412|UMLS:C2931317|ICD9:091|DOID:4156|COHD:433410|UMLS:C0153139		early symptomatic syphilis|symptomatic early syphilis|early syphilis, symptomatic	http://purl.obolibrary.org/obo/MONDO_0002896	The subclinical or symptomatic stage of syphilis, occurring at an average of three weeks after contact with an infected individual. It manifests with one or more painless, indurated ulcers (chancres) of the skin or mucous membranes at the site of inoculation. These lesions heal spontaneously within a few weeks.	SNOMEDCT:186846005|UMLS:C2931317|UMLS:C0153139|DOID:4156|NCIT:C128412|MESH:C536772
HGNC:6391	KIF22	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6391		
MONDO:0000235	obsolete Rocky mountain spotted fever	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000235		
MONDO:0002890	obsolete gastrointestinal adenoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002890		
MONDO:0012218	ADDWOC	biolink:Disease	mondo	UMLS:C2674987|MESH:C567185|OMIM:609222		Dandy-Walker malformation with occipital cephalocele, autosomal dominant|ADDWOC|Dandy-Walker malformation with occipital cephalocele, autosomal dominant; ADDWOC	http://purl.obolibrary.org/obo/MONDO_0012218		UMLS:C2674987|http://identifiers.org/omim/609222|MESH:C567185
MONDO:0002891	obsolete gastrointestinal neuroendocrine benign tumor	biolink:Disease	mondo	DOID:4148			http://purl.obolibrary.org/obo/MONDO_0002891		DOID:4148
MONDO:0002892	skull base chordoma	biolink:Disease	mondo	UMLS:C1335975|DOID:4151|NCIT:C5453		chordoma of the skull base|chordoma of skull base|skull base chordoma	http://purl.obolibrary.org/obo/MONDO_0002892	A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells..	UMLS:C1335975|DOID:4151|NCIT:C5453
MONDO:0012219	spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type	biolink:Disease	mondo	UMLS:C1836584|OMIM:609223|MESH:C563772		spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type	http://purl.obolibrary.org/obo/MONDO_0012219		MESH:C563772|UMLS:C1836584|http://identifiers.org/omim/609223
MONDO:0000230	Israeli tick typhus	biolink:Disease	mondo	DOID:0050043		Israeli spotted fever	http://purl.obolibrary.org/obo/MONDO_0000230	An infectious disease caused by infection with rickettsia conorii subsp. israelensis.	DOID:0050043
UBERON:0035642	laryngeal nerve	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0035642	Any nerve that innervates the larynx.	
MONDO:0014886	severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	biolink:Disease	mondo	OMIM:617051|UMLS:C4310745|Orphanet:488627	ordo_malformation_syndrome	mental retardation, autosomal recessive 55; MRT55|intellectual disability, autosomal recessive 55|mental retardation, autosomal recessive 55|intellectual disability, autosomal recessive type 55|MRT55|intellectual disability, autosomal recessive 55; MRT55|mental retardation, autosomal recessive type 55	http://purl.obolibrary.org/obo/MONDO_0014886		UMLS:C4310745|http://identifiers.org/omim/617051|ORPHA:488627
MONDO:0012223	hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate	biolink:Disease	mondo	MESH:C563765|UMLS:C1836521|OMIM:609250		hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate|Marie Unna-like scalp hypotrichosis	http://purl.obolibrary.org/obo/MONDO_0012223		UMLS:C1836521|MESH:C563765|http://identifiers.org/omim/609250
MONDO:0014885	Hermansky-Pudlak syndrome 10	biolink:Disease	mondo	UMLS:C4310746|OMIM:617050		HPS10|AP3D1 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome caused by mutation in AP3D1|Hermansky-Pudlak syndrome 10; HPS10|Hermansky-Pudlak syndrome 10|Hermansky-Pudlak syndrome type 10	http://purl.obolibrary.org/obo/MONDO_0014885	Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene.	UMLS:C4310746|http://identifiers.org/omim/617050
MONDO:0012224	FEB6	biolink:Disease	mondo	UMLS:C1836518|OMIM:609253|MESH:C563764|DOID:0111309		FEB6|febrile seizures, familial, 6|febrile seizures, familial, 6; FEB6|convulsions, familial febrile, 6	http://purl.obolibrary.org/obo/MONDO_0012224		MESH:C563764|UMLS:C1836518|http://identifiers.org/omim/609253|DOID:0111309
MONDO:0014884	cholestasis, progressive familial intrahepatic, 5	biolink:Disease	mondo	UMLS:C4310747|UMLS:CN776839|Orphanet:480476|DOID:0070225|OMIM:617049	ordo_clinical_subtype	NR1H4 deficiency|cholestasis, progressive familial intrahepatic, 5|NR1H4 progressive familial intrahepatic cholestasis|cholestasis, progressive familial intrahepatic, type 5|progressive familial intrahepatic cholestasis caused by mutation in NR1H4|cholestasis, progressive familial intrahepatic, 5; PFIC5|PFIC5	http://purl.obolibrary.org/obo/MONDO_0014884	Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the NR1H4 gene.	UMLS:CN776839|DOID:0070225|UMLS:C4310747|ORPHA:480476|http://identifiers.org/omim/617049
MONDO:0012221	alpha-N-acetylgalactosaminidase deficiency type 1	biolink:Disease	mondo	GARD:0003903|GARD:0000116|ICD10:E77.1|Orphanet:79279|OMIM:609241	gard_rare|ordo_clinical_subtype	Schindler disease type I|Schindler disease, type I|Schindler disease, type 3|NAGA deficiency type 1|NAGA deficiency, type 3|NAGA deficiency, type 1|Schindler disease, type 1|Schindler disease type 1|Alpha-N-acetylgalactosaminidase deficiency, type 3|neuroaxonal dystrophy, Schindler type|N-acetyl-alpha-D-galactosaminidase deficiency type III|Alpha-N-acetylgalactosaminidase deficiency, type 1|alpha-N-acetylgalactosaminidase deficiency, type 1	http://purl.obolibrary.org/obo/MONDO_0012221	Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.	http://identifiers.org/omim/609241|ORPHA:79279
MONDO:0012222	alpha-N-acetylgalactosaminidase deficiency type 2	biolink:Disease	mondo	GARD:0009161|ICD10:E77.1|OMIM:609242|Orphanet:79280|UMLS:C1836522	ordo_clinical_subtype	Alpha-N-acetylgalactosaminidase deficiency, adult-onset|Kanzaki disease|adult-onset Alpha-N-acetylgalactosaminidase deficiency|Schindler disease, type 2|Naga deficiency, type 2|NAGA deficiency type 2|Alpha-N-acetylgalactosaminidase deficiency adult onset|KANZAKI disease|Alpha-N-acetylgalactosaminidase deficiency, type 2|Schindler disease type 2	http://purl.obolibrary.org/obo/MONDO_0012222	Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy.	UMLS:C1836522|http://identifiers.org/omim/609242|ORPHA:79280
MONDO:0014883	hypertrophic cardiomyopathy 26	biolink:Disease	mondo	DOID:0110327|OMIM:617047|UMLS:C4310749		cardiomyopathy, familial restrictive, 5|cardiomyopathy, familial hypertrophic, 26|FLNC hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, 26; CMH26|CMH26|cardiomyopathy familial hypertrophic 26|hypertrophic cardiomyopathy caused by mutation in FLNC|cardiomyopathy, familial hypertrophic, type 26|hypertrophic cardiomyopathy type 26	http://purl.obolibrary.org/obo/MONDO_0014883	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the FLNC gene.	UMLS:C4310749|http://identifiers.org/omim/617047|DOID:0110327
MONDO:0012227	MYP7	biolink:Disease	mondo	OMIM:609256|UMLS:C1836506|MESH:C563761		myopia 7|myopia 7; MYP7|MYP7	http://purl.obolibrary.org/obo/MONDO_0012227		UMLS:C1836506|MESH:C563761|http://identifiers.org/omim/609256
MONDO:0014889	striatonigral degeneration, childhood-onset	biolink:Disease	mondo	Orphanet:497906|OMIM:617054|UMLS:C4310743	ordo_disease	SNDC|childhood-onset basal ganglia degeneration syndrome|SNDC|striatonigral degeneration, childhood-onset; SNDC|Lenk-Ploski syndrome|striatonigral Degeneration, childhood-onset	http://purl.obolibrary.org/obo/MONDO_0014889		ORPHA:497906|UMLS:C4310743|http://identifiers.org/omim/617054
UBERON:0035639	ocular adnexa	biolink:AnatomicalEntity	mondo			appendages of the eye|accessory parts of orbital region|structurae oculi accessoriae|set of accessory visual structures|adnexa oculi|accessory visual structures set|appendage of eye|accessory visual structures|eye adnexa|adnexal parts of orbital region	http://purl.obolibrary.org/obo/UBERON_0035639	The parts of the orbital region that are outside of the the eyeball, including the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva	
MONDO:0012228	MYP8	biolink:Disease	mondo	OMIM:609257|UMLS:C1836505|MESH:C563760		MYP8|myopia 8|myopia 8; MYP8	http://purl.obolibrary.org/obo/MONDO_0012228		UMLS:C1836505|MESH:C563760|http://identifiers.org/omim/609257
MONDO:0012225	Senior-Loken syndrome 5	biolink:Disease	mondo	UMLS:C1836517|OMIM:609254|MESH:C563763		Senior-Loken syndrome 5|IQCB1 Senior-Loken syndrome|Senior-Loken syndrome caused by mutation in IQCB1|Senior-Loken syndrome type 5|SENIOR-Loken syndrome 5; SLSN5|SLSN5	http://purl.obolibrary.org/obo/MONDO_0012225	Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 gene.	UMLS:C1836517|MESH:C563763|http://identifiers.org/omim/609254
MONDO:0014888	MIRAGE syndrome	biolink:Disease	mondo	OMIM:617053|GARD:0013108|UMLS:C4284088|Orphanet:494433|NCIT:C147530		mirage|mirage syndrome|myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome|myelodysplasia, infection, restriction of Growth, adrenal Hypoplasia, genital phenotypes, and enteropathy|myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome	http://purl.obolibrary.org/obo/MONDO_0014888	An autosomal dominant condition caused by mutation(s) in the SAMD9 gene, encoding sterile alpha motif domain-containing protein 9A. It is a syndromic condition comprising myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital abnormalities, and enteropathy.	NCIT:C147530|UMLS:C4284088|ORPHA:494433|http://identifiers.org/omim/617053
MONDO:0014887	bone marrow failure syndrome 3	biolink:Disease	mondo	UMLS:C4310744|OMIM:617052		bone marrow failure syndrome type 3|bone marrow failure syndrome 3|bone marrow failure syndrome caused by mutation in DNAJC21|BMFS3|DNAJC21 bone marrow failure syndrome	http://purl.obolibrary.org/obo/MONDO_0014887	Any bone marrow failure syndrome in which the cause of the disease is a mutation in the DNAJC21 gene.	UMLS:C4310744|http://identifiers.org/omim/617052
MONDO:0012226	FEB5	biolink:Disease	mondo	OMIM:609255|UMLS:C1836507|MESH:C563762|DOID:0111306		febrile seizures, familial, 5; FEB5|convulsions, familial febrile, 5|FEB5|febrile seizures, familial, 5	http://purl.obolibrary.org/obo/MONDO_0012226		MESH:C563762|UMLS:C1836507|http://identifiers.org/omim/609255|DOID:0111306
MONDO:0000229	Indian tick typhus	biolink:Disease	mondo	Orphanet:101335|DOID:0050042			http://purl.obolibrary.org/obo/MONDO_0000229	An infectious disease caused by infection with rickettsia conorii subsp. coronorii.	ORPHA:101335|DOID:0050042
MONDO:0000228	obsolete Astrakhan spotted fever	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000228		
MONDO:0014882	hereditary spastic paraplegia 77	biolink:Disease	mondo	OMIM:617046|Orphanet:466722|UMLS:C4310750|ICD10:G11.4|DOID:0110822	ordo_disease	hereditary spastic paraplegia type 77|autosomal recessive spastic paraplegia 77|spastic paraplegia 77, autosomal recessive|autosomal recessive spastic paraplegia type 77|SPG77|spastic paraplegia 77, autosomal recessive; SPG77|FARS2 hereditary spastic paraplegia|hereditary spastic paraplegia caused by mutation in FARS2	http://purl.obolibrary.org/obo/MONDO_0014882	Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated.	UMLS:C4310750|ORPHA:466722|http://identifiers.org/omim/617046|DOID:0110822
MONDO:0012220	Griscelli syndrome type 3	biolink:Disease	mondo	MESH:C537303|OMIM:609227|Orphanet:79478|DOID:0060834|ICD10:E70.3|UMLS:C1836573|GARD:0009715	gard_rare|ordo_clinical_subtype	Griscelli-PruniC)ras syndrome type 3|Griscelli syndrome, type 3|Griscelli-Pruni��ras syndrome type 3|Griscelli-Pruniéras syndrome type 3|Griscelli syndrome, type 3; GS3|GS3|Griscelli disease type 3|hypomelanosis with no immunologic or neurologic manifestations	http://purl.obolibrary.org/obo/MONDO_0012220	A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes.	UMLS:C1836573|DOID:0060834|http://identifiers.org/omim/609227|MESH:C537303|ORPHA:79478
MONDO:0014881	transketolase deficiency	biolink:Disease	mondo	Orphanet:488618|UMLS:C4310751|OMIM:617044	ordo_malformation_syndrome	TKT deficiency|short stature-developmental delay-congenital heart defect syndrome|SDDHD|short stature, developmental delay, and congenital heart defects|short stature, developmental delay, and congenital heart defects; SDDHD	http://purl.obolibrary.org/obo/MONDO_0014881		UMLS:C4310751|http://identifiers.org/omim/617044|ORPHA:488618
MONDO:0014880	Duane retraction syndrome 3 with or without deafness	biolink:Disease	mondo	OMIM:617041|UMLS:C4310752|GARD:0010691	gard_rare	Duane retraction syndrome caused by mutation in MAFB|Duane retraction syndrome 3|Duane syndrome type 3|DURS3|MAFB Duane retraction syndrome|Duane retraction syndrome 3 with or without deafness|Duane retraction syndrome 3 with or without deafness; DURS3	http://purl.obolibrary.org/obo/MONDO_0014880	Duane syndrome type 3 is a disorder of eye movement.The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. About 15 percent of all cases of Duane syndrome are type 3. Most cases occur without other signs and symptoms.In most people with Duane syndrome type 3, the cause is unknown; but it can sometimes be caused by mutations in the CHN1 gene and inherited in an autosomal dominant fashion.	UMLS:C4310752|http://identifiers.org/omim/617041
MONDO:0000245	tinea imbricata	biolink:Disease	mondo	UMLS:C0040255|ICD10:B35.5|DOID:0050116|SCTID:240699006			http://purl.obolibrary.org/obo/MONDO_0000245	A tinea corporis that results in fungal infection located in skin, has material basis in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition.	SNOMEDCT:240699006|DOID:0050116|UMLS:C0040255
MONDO:0000244	endothrix infectious disease	biolink:Disease	mondo	DOID:0050105			http://purl.obolibrary.org/obo/MONDO_0000244	A dermatophyte infection of the hair that nvade the hair shaft and internalize into the hair cell.	DOID:0050105
MONDO:0000243	ectothrix infectious disease	biolink:Disease	mondo	DOID:0050097			http://purl.obolibrary.org/obo/MONDO_0000243	A dermatophyte infection of the hair that infects the hair surface.	DOID:0050097
MONDO:0000242	tinea barbae	biolink:Disease	mondo	DOID:0050096|UMLS:C2349994|SCTID:399329002		beard dermatophytosis|dermatophytosis of beard	http://purl.obolibrary.org/obo/MONDO_0000242	A dermatophytosis that involves the beard.	UMLS:C2349994|DOID:0050096|SNOMEDCT:399329002
MONDO:0000249	secretory diarrhea	biolink:Disease	mondo	SCTID:15699003|UMLS:C0267557|DOID:0050129|HP:0005208			http://purl.obolibrary.org/obo/MONDO_0000249	Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption.	SNOMEDCT:15699003|UMLS:C0267557|DOID:0050129
MONDO:0000248	dengue shock syndrome	biolink:Disease	mondo	MESH:D019595|UMLS:C0376300|SCTID:409671005|DOID:0050125		DSS	http://purl.obolibrary.org/obo/MONDO_0000248	A dengue disease that involves the most severe form of dengue fever, has material basis in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom easy bruising, has symptom blood spots, has symptom bleeding gums, and has symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth.	UMLS:C0376300|DOID:0050125|SNOMEDCT:409671005|MESH:D019595
MONDO:0000247	obsolete hemophagocytic lymphohistiocytosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000247	A rare but potentially life-threatening disorder characterized by the proliferation of histiocytes and macrophages and phagocytosis of red blood cells, white blood cells, and platelets. It may be inherited or secondary, due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia.	
MONDO:0026856	obsolete homosexuality 1	biolink:Disease	mondo	OMIM:306995		HOMOSEXUALITY 1; HMS1|Sexual Orientation, Male	http://purl.obolibrary.org/obo/MONDO_0026856		http://identifiers.org/omim/306995
MONDO:0000246	obsolete la Crosse encephalitis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000246		
UBERON:0035650	nerve of clitoris	biolink:AnatomicalEntity	mondo			clitoral nerve|clitoris nerve	http://purl.obolibrary.org/obo/UBERON_0035650	Any nerve that innervates the clitoris.	
MONDO:0012209	branchiogenic deafness syndrome	biolink:Disease	mondo	Orphanet:50815|MESH:C563780|ICD10:Q87.0|OMIM:609166|SCTID:717944002|UMLS:C1836673	ordo_malformation_syndrome	BRANCHIOGENIC-deafness syndrome|Mégarbané-Loiselet syndrome|MC)garbanC)-Loiselet syndrome	http://purl.obolibrary.org/obo/MONDO_0012209	Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent.	MESH:C563780|UMLS:C1836673|SNOMEDCT:717944002|http://identifiers.org/omim/609166|ORPHA:50815
MONDO:0012207	umbilicus, familial flat	biolink:Disease	mondo	GARD:0009490|UMLS:C1836682|MESH:C537059|OMIM:609164	gard_rare	flat umbilicus autosomal dominant|umbilicus, familial flat|flat umbilicus familial|flat umbilicus, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0012207		UMLS:C1836682|http://identifiers.org/omim/609164|MESH:C537059
UBERON:0035652	fibular nerve	biolink:AnatomicalEntity	mondo			peroneal nerve	http://purl.obolibrary.org/obo/UBERON_0035652	Any nerve that innervates the fibularis. Includes the common fibular nerve, and its branches	
MONDO:0012208	congenital reticular ichthyosiform erythroderma	biolink:Disease	mondo	Orphanet:281190|MESH:C563781|OMIM:609165|SCTID:703504006|UMLS:C3665704	ordo_disease	erythroderma, ichthyosiform, congenital reticular|IWC|erythrokeratoderma, reticular|ichthyosis with confetti|CRIE|Aarau disease|CRIE|erythroderma, ichthyosiform, congenital reticular; CRIE|ichthyosis variegata	http://purl.obolibrary.org/obo/MONDO_0012208		ORPHA:281190|SNOMEDCT:703504006|MESH:C563781|http://identifiers.org/omim/609165|UMLS:C3665704
MONDO:0014869	hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome	biolink:Disease	mondo	Orphanet:528091|OMIM:617021|UMLS:C4310761	ordo_disease	hydrops, lactic acidosis, and sideroblastic anemia; HLASA|hydrops, lactic acidosis, and sideroblastic anemia|HLASA	http://purl.obolibrary.org/obo/MONDO_0014869		http://identifiers.org/omim/617021|ORPHA:528091|UMLS:C4310761
UBERON:0035651	glans	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0035651		
MONDO:0000241	Keshan disease	biolink:Disease	mondo	SCTID:46939000|DOID:0050083|GARD:0008761|UMLS:C0268095|ICD9:269.3|MESH:C536166	gard_rare	caused by deficiency of selenium in the diet|enlarged heart and poor heart function|congestive cardiomyopathy due to selenium deficiency	http://purl.obolibrary.org/obo/MONDO_0000241	A congestive cardiomyopathy caused by a combination of dietary deficiency of selenium and the presence of a mutated strain of Coxsackievirus.	UMLS:C0268095|SNOMEDCT:46939000|MESH:C536166|DOID:0050083
MONDO:0000240	invasive aspergillosis	biolink:Disease	mondo	DOID:0050073|SCTID:721798004|UMLS:C0238013			http://purl.obolibrary.org/obo/MONDO_0000240	An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage.	UMLS:C0238013|SNOMEDCT:721798004|DOID:0050073
MONDO:0014875	hyperaldosteronism, familial, type IV	biolink:Disease	mondo	OMIM:617027|UMLS:C4310756		HALD4|hyperaldosteronism, familial, type IV|hyperaldosteronism, familial, type IV; HALD4|hyperaldosteronism, familial, type 4|FH 4|aldosteronism, primary, and hypertension	http://purl.obolibrary.org/obo/MONDO_0014875		UMLS:C4310756|http://identifiers.org/omim/617027
MONDO:0012212	Loeys-Dietz syndrome 1	biolink:Disease	mondo	NCIT:C75119|GARD:0009458|Orphanet:97295|UMLS:C2697933|DOID:0070235|OMIM:609192		Furlong syndrome|aortic aneurysm, familial thoracic 5|LDS1|Loeys-Dietz syndrome caused by mutation in TGFBR1|TGFBR1 Loeys-Dietz syndrome|Loeys-Dietz syndrome 1|Loeys-Dietz syndrome 1; LDS1|Loeys-Dietz aortic aneurysm syndrome|Loeys-Dietz syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0012212	A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones.	UMLS:C2697933|DOID:0070235|http://identifiers.org/omim/609192|ORPHA:97295|NCIT:C75119
MONDO:0012213	hereditary spastic paraplegia 26	biolink:Disease	mondo	OMIM:609195|SCTID:726607007|UMLS:C1836632|GARD:0009587|MESH:C536862|UMLS:C4511959|ICD10:G11.4|Orphanet:101006|DOID:0110777	ordo_disease	hereditary spastic paraplegia type 26|autosomal recessive spastic paraplegia 26|SPG26|GM2 synthase deficiency|spastic paraplegia 26, autosomal recessive; SPG26|spastic paraplegia 26, autosomal recessive|autosomal recessive spastic paraplegia type 26|spastic paraplegia 26	http://purl.obolibrary.org/obo/MONDO_0012213	A rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1.	DOID:0110777|ORPHA:101006|UMLS:C1836632|UMLS:C4511959|http://identifiers.org/omim/609195|MESH:C536862|SNOMEDCT:726607007
MONDO:0014874	pontocerebellar hypoplasia, type 2F	biolink:Disease	mondo	OMIM:617026|UMLS:C4310757		pontocerebellar hypoplasia, type 2F|TSEN15 non-syndromic pontocerebellar hypoplasia|pontocerebellar hypoplasia, type 2F; PCH2F|PCH2F|non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN15	http://purl.obolibrary.org/obo/MONDO_0014874	Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN15 gene.	UMLS:C4310757|http://identifiers.org/omim/617026
MONDO:0014873	nevus comedonicus syndrome	biolink:Disease	mondo	GARD:0013073|NCIT:C3946|SCTID:35962006|UMLS:C0265987|ICD10:Q82.5|Orphanet:64754|OMIM:617025	ordo_disease	NC|acne Nevus|Nevus comedonicus|pilosebaceous nevoid disorder|acneiform Nevus|NEVUS comedonicus; NC|comedo Nevus	http://purl.obolibrary.org/obo/MONDO_0014873	A rare developmental skin condition consisting of abnormal pilosebaceous follicle development. It is characterized by linear or band-like distributions of groups of comedones, usually on the face, neck, upper arm, chest, and abdomen, that appear at birth or in childhood.	ORPHA:64754|NCIT:C3946|http://identifiers.org/omim/617025|UMLS:C0265987|SNOMEDCT:35962006
MONDO:0012210	migraine with aura, susceptibility to, 7	biolink:Disease	mondo	UMLS:C1836670|OMIM:609179	predisposition	migraine with aura, susceptibility to, type 7|migraine with aura, susceptibility to, 7|Mgr7	http://purl.obolibrary.org/obo/MONDO_0012210		UMLS:C1836670|http://identifiers.org/omim/609179
UBERON:0035649	nerve of penis	biolink:AnatomicalEntity	mondo			penile nerve|penis nerve	http://purl.obolibrary.org/obo/UBERON_0035649	Any nerve that innervates the penis.	
MONDO:0014872	congenital stationary night blindness 1H	biolink:Disease	mondo	UMLS:C4310758|DOID:0110866|OMIM:617024		GNB3 congenital stationary night blindness|night blindness, congenital stationary, type 1H|congenital stationary night blindness type 1H|night blindness, congenital stationary, type 1H; CSNB1H|congenital stationary night blindness caused by mutation in GNB3|CSNB1H	http://purl.obolibrary.org/obo/MONDO_0014872	Any congenital stationary night blindness in which the cause of the disease is a mutation in the GNB3 gene.	UMLS:C4310758|http://identifiers.org/omim/617024|DOID:0110866
MONDO:0012211	MPDU1-CDG	biolink:Disease	mondo	UMLS:C1836669|ICD10:E77.8|Orphanet:79323|GARD:0009832|DOID:0080558|SCTID:724096007|NCIT:C126872|MESH:C535744|OMIM:609180	ordo_disease	congenital disorder of glycosylation, type If|congenital disorder of glycosylation type 1f|carbohydrate deficient glycoprotein syndrome type If|CDG1F|CDG-If|MPDU1-CDG (CDG-If)|CDG If|CDG syndrome type If|congenital disorder of glycosylation type If|CDGIf|carbohydrate-deficient glycoprotein syndrome type 1F|CDG 1F|congenital disorder of glycosylation, type If; CDG1F	http://purl.obolibrary.org/obo/MONDO_0012211	The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.	UMLS:C1836669|NCIT:C126872|SNOMEDCT:724096007|http://identifiers.org/omim/609180|DOID:0080558|ORPHA:79323|MESH:C535744
UBERON:0035648	nerve innervating pinna	biolink:AnatomicalEntity	mondo			auricular nerve	http://purl.obolibrary.org/obo/UBERON_0035648	Any nerve that innervates the pinna.	
MONDO:0014879	obsolete patent ductus arteriosus 3	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0014879		
MONDO:0012216	foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome	biolink:Disease	mondo	ICD10:Q15.8|Orphanet:397618|MESH:C563774|OMIM:609218	ordo_disease	FVH2|foveal hypoplasia type 2|foveal hypoplasia 2|foveal hypoplasia 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism|foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis|FHONDA syndrome|foveal hypoplasia 2; FVH2	http://purl.obolibrary.org/obo/MONDO_0012216		ORPHA:397618|MESH:C563774|http://identifiers.org/omim/609218
MONDO:0014878	patent ductus arteriosus 2	biolink:Disease	mondo	OMIM:617035|UMLS:C4284595		patent ductus arteriosus 2; PDA2|patent ductus arteriosus 2|PDA2|PDA2|patent ductus arteriosus type 2	http://purl.obolibrary.org/obo/MONDO_0014878		UMLS:C4284595|http://identifiers.org/omim/617035
MONDO:0012217	Bruck syndrome 2	biolink:Disease	mondo	GARD:0010023|OMIM:609220|UMLS:C1836602		Bruck syndrome caused by mutation in PLOD2|Bruck syndrome 2|BRKS2|Bruck syndrome type 2|Bruck syndrome 2; BRKS2|osteogenesis imperfecta with congenital Joint contractures|PLOD2 Bruck syndrome	http://purl.obolibrary.org/obo/MONDO_0012217	Any Bruck syndrome in which the cause of the disease is a mutation in the PLOD2 gene.	UMLS:C1836602|http://identifiers.org/omim/609220
MONDO:0012214	GCCD3	biolink:Disease	mondo	OMIM:609197|UMLS:C1836621		glucocorticoid deficiency 2, formerly|glucocorticoid deficiency 2|familial glucocorticoid deficiency 3|glucocorticoid deficiency 3|GCCD3|glucocorticoid deficiency 3; GCCD3	http://purl.obolibrary.org/obo/MONDO_0012214		UMLS:C1836621|http://identifiers.org/omim/609197
MONDO:0014877	myopathy, distal, 5	biolink:Disease	mondo	UMLS:C4310754|OMIM:617030		myopathy, distal, type 5|myopathy, distal, 5|ADSSL1 distal myopathy|myopathy, distal, 5; MPD5|MPD5|distal myopathy caused by mutation in ADSSL1|MPD5	http://purl.obolibrary.org/obo/MONDO_0014877	Any distal myopathy in which the cause of the disease is a mutation in the ADSSL1 gene.	UMLS:C4310754|http://identifiers.org/omim/617030
MONDO:0012215	myofibrillar myopathy 3	biolink:Disease	mondo	SCTID:765196004|ICD10:G71.8|DOID:0080094|Orphanet:98911|UMLS:C1836607|OMIM:609200|MESH:C563775	ordo_disease	myotilinopathy|myopathy, myofibrillar, 3; MFM3|MFM3|myopathy, myofibrillar, myotilin-related|autosomal dominant distal myopathy caused by mutation in MYOT|myopathy, myofibrillar, type 3|distal myotilinopathy|myopathy, myofibrillar, 3|myofibrillar myopathy type 3|MYOT autosomal dominant distal myopathy	http://purl.obolibrary.org/obo/MONDO_0012215	Distal myotilinopathy is a rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.	MESH:C563775|UMLS:C1836607|http://identifiers.org/omim/609200|DOID:0080094|SNOMEDCT:765196004|ORPHA:98911
NCBITaxon:12080	Human poliovirus 1	organism taxon	mondo	GC_ID:1		Poliovirus 1|HPV-1|Polio virus 1|Poliovirus type 1|PV1|Human poliovirus type 1|poliovirus type 1 PV1	http://purl.obolibrary.org/obo/NCBITaxon_12080		
MONDO:0014876	intellectual disability, autosomal recessive 54	biolink:Disease	mondo	OMIM:617028|UMLS:C4310755		intellectual disability, autosomal recessive 54; MRT54|autosomal recessive non-syndromic intellectual disability caused by mutation in TNIK|intellectual disability, autosomal recessive type 54|mental retardation, autosomal recessive type 54|MRT54|intellectual disability, autosomal recessive 54; MRT54|mental retardation, autosomal recessive 54; MRT54|TNIK autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive 54|mental retardation, autosomal recessive 54	http://purl.obolibrary.org/obo/MONDO_0014876	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TNIK gene.	UMLS:C4310755|http://identifiers.org/omim/617028
NCBITaxon:12083	Human poliovirus 2	organism taxon	mondo	GC_ID:1		Poliovirus 2|HPV-2|Poliovirus type 2|Human Poliovirus type 2	http://purl.obolibrary.org/obo/NCBITaxon_12083		
MONDO:0000239	adiaspiromycosis	biolink:Disease	mondo	MEDGEN:537148|UMLS:C0259737|DOID:0050072|ICD9:117.9|SCTID:23892008		adiaspirosis|adiaspiromycosis|haplosporangiosis|pulmonary adiaspiromycosis	http://purl.obolibrary.org/obo/MONDO_0000239	Adiaspiromycosis is a rare fungal infection in the lung and is caused by inhalation of spores of the saprophytic soil fungus Chrysosporium parvum var crescens (previously known as Emmonsia crescens).	UMLS:C0259737|SNOMEDCT:23892008|DOID:0050072
MONDO:0014871	retinitis pigmentosa 75	biolink:Disease	mondo	UMLS:C4310759|ICD10:H35.5|DOID:0110361|OMIM:617023		retinitis pigmentosa 75; RP75|RP75|retinitis pigmentosa type 75|retinitis pigmentosa caused by mutation in AGBL5|retinitis pigmentosa 75|AGBL5 retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0014871	Any retinitis pigmentosa in which the cause of the disease is a mutation in the AGBL5 gene.	UMLS:C4310759|http://identifiers.org/omim/617023|DOID:0110361
NCBITaxon:12086	Human poliovirus 3	organism taxon	mondo	GC_ID:1		Poliovirus 3|Poliovirus type 3|HPV-3|Polio virus 3|Human poliovirus type 3	http://purl.obolibrary.org/obo/NCBITaxon_12086		
MONDO:0014870	NEK9-related lethal skeletal dysplasia	biolink:Disease	mondo	ICD10:Q77.2|UMLS:C4310760|Orphanet:464366|OMIM:617022	ordo_malformation_syndrome	lethal congenital contracture syndrome 10|lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome|lethal congenital contracture syndrome type 10|lethal congenital contracture syndrome 10; LCCS10|LCCS10	http://purl.obolibrary.org/obo/MONDO_0014870	NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.	UMLS:C4310760|ORPHA:464366|http://identifiers.org/omim/617022
NCBITaxon:12089	Coxsackievirus A24	organism taxon	mondo	GC_ID:1		Coxsackievirus A-24|CV-A24|Human coxsackievirus A24|Human enterovirus CVA24	http://purl.obolibrary.org/obo/NCBITaxon_12089		
MONDO:0000212	hypercalcemia, infantile	biolink:Disease	mondo	SCTID:276645004|OMIMPS:143880|DC:0000724|MESH:C562999		infantile hypercalcemia|infantile hypercalcemia disease|hypercalcemia disease of infancy|infantile onset hypercalcemia disease	http://purl.obolibrary.org/obo/MONDO_0000212	A hypercalcemia disease that occurs between 28 days to one year of life..	MESH:C562999|SNOMEDCT:276645004
MONDO:0002875	parasitic ectoparasitic infectious disease	biolink:Disease	mondo	DOID:4110|UMLS:C0013578|MESH:D004478		Infestations, ectoparasitic|ectoparasitic infestation|ectoparasitism|infestation, ectoparasitic	http://purl.obolibrary.org/obo/MONDO_0002875	Infestations by parasites which live on, or burrow into, the surface of their host's epidermis. Most ectoparasites are arthropods.	MESH:D004478|UMLS:C0013578|DOID:4110
NCBITaxon:12058	Picornaviridae	organism taxon	mondo	GC_ID:1		Picornavirus	http://purl.obolibrary.org/obo/NCBITaxon_12058		
MONDO:0002876	cervical adenosarcoma	biolink:Disease	mondo	NCIT:C40229|ICD10:C53.8|DOID:4111|Orphanet:213792|SCTID:764847000|ICD10:C53.0|ICD10:C53.1|UMLS:C1516426|UMLS:CN201069	ordo_disease	cervical Mullerian adenosarcoma|adenosarcoma of uterine cervix|cervical Müllerian adenosarcoma|cervical adenosarcoma|uterine cervix adenosarcoma|cervical Muellerian adenosarcoma|adenosarcoma of the cervix uteri	http://purl.obolibrary.org/obo/MONDO_0002876	A rare malignant mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign epithelial elements.	SNOMEDCT:764847000|UMLS:C1516426|NCIT:C40229|UMLS:CN201069|DOID:4111|ORPHA:213792
MONDO:0000211	striatal degeneration, autosomal dominant	biolink:Disease	mondo	UMLS:C1836694|Orphanet:228169|DC:0000722|MESH:C563783|OMIMPS:609161		ADSD|autosomal dominant striatal neurodegeneration	http://purl.obolibrary.org/obo/MONDO_0000211	An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.	MESH:C563783|UMLS:C1836694|ORPHA:228169
MONDO:0002877	cervical carcinosarcoma	biolink:Disease	mondo	UMLS:CN201068|Orphanet:213787|NCIT:C36097|UMLS:C1516420|DOID:4112|ICD10:C53|UMLS:C1332917|SCTID:764951002	ordo_disease	uterine cervix carcinosarcoma|cervical malignant mixed mesodermal (Müllerian) tumor|cervical malignant Müllerian mixed tumor|carcinosarcoma of the cervix uteri|malignant Müllerian mixed tumor of the cervix uteri|cervical carcinosarcoma|cervical malignant mixed mesodermal mullerian tumor|cervical malignant mixed Mullerian tumor|cervical malignant mixed mesodermal (Mullerian) tumor|cervical mixed epithelial and mesenchymal neoplasm|cervical malignant Mullerian mixed tumor|malignant Mullerian mixed tumor of the cervix uteri	http://purl.obolibrary.org/obo/MONDO_0002877	A mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign or malignant epithelial elements. This category includes adenosarcoma and carcinosarcoma.	SNOMEDCT:764951002|UMLS:C1516420|NCIT:C36097|UMLS:CN201068|DOID:4112|ORPHA:213787|UMLS:C1332917
MONDO:0000210	thiopurine metabolic disease	biolink:Disease	mondo	DC:0000721|OMIMPS:610460			http://purl.obolibrary.org/obo/MONDO_0000210		
NCBITaxon:12059	Enterovirus	organism taxon	mondo	GC_ID:1		Enteroviruses	http://purl.obolibrary.org/obo/NCBITaxon_12059		
MONDO:0002878	uterine corpus adenosarcoma	biolink:Disease	mondo	Orphanet:213600|DOID:4113|GARD:0009636|ICD10:C54.2|NCIT:C6336|MESH:C538232|UMLS:C1336917|UMLS:CN201046|ONCOTREE:UAS	ordo_disease	adenosarcoma of the uterus|uterine adenosarcoma|uterine body adenosarcoma|body of uterus adenosarcoma|uterine corpus Müllerian adenosarcoma|adenosarcoma of body of uterus|adenosarcoma of the body of uterus|uterine corpus adenosarcoma|adenosarcoma of the uterine corpus|uterine corpus Mullerian adenosarcoma|adenosarcoma of the corpus uteri|adenosarcoma of uterine corpus|Mullerian adenosarcoma of the uterus|uterine corpus mullerian adenosarcoma|adenosarcoma of uterine body|adenosarcoma of the uterine body	http://purl.obolibrary.org/obo/MONDO_0002878	A primary polypoid malignant neoplasm of the uterine corpus characterized by the presence of a sarcomatous mesenchymal component and a benign epithelial component. Patients usually present with abnormal vaginal bleeding. It is considered a low grade malignant neoplasm and may recur following resection.	NCIT:C6336|UMLS:C1336917|MESH:C538232|UMLS:CN201046|DOID:4113|ORPHA:213600
MONDO:0002871	testicular trophoblastic tumor	biolink:Disease	mondo	DOID:4084|NCIT:C39934|UMLS:C1515301		testicular trophoblastic tumor	http://purl.obolibrary.org/obo/MONDO_0002871	A tumor that arises from the testis and is composed of neoplastic trophoblastic cells. The vast majority of cases are choriocarcinomas.	NCIT:C39934|UMLS:C1515301|DOID:4084
MONDO:0000216	obsolete congenital bilateral aplasia of vas deferens	biolink:Disease	mondo	DC:0000730			http://purl.obolibrary.org/obo/MONDO_0000216		
MONDO:0002872	trophoblastic neoplasm	biolink:Disease	mondo	DOID:4085|NCIT:C3422|MESH:D014328|UMLS:C0041182		tumor of trophoblast|trophoblastic tumor|trophoblastic neoplasm NOS (morphologic abnormality)|trophoblast neoplasm|trophoblastic tumor (qualifier value)|trophoblastic neoplasm (morphologic abnormality)|neoplasm of trophoblast|trophoblast tumor|trophoblastic neoplasm|trophoblastic neoplasms|trophoblast neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0002872	A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells. Representative examples include hydatidiform mole and choriocarcinoma.	NCIT:C3422|MESH:D014328|DOID:4085|UMLS:C0041182
MONDO:0000215	obsolete epilepsy, familial focal, with variable foci	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000215		
MONDO:0000214	hypermanganesemia with dystonia	biolink:Disease	mondo	DC:0000727|SCTID:768553002|DOID:0080535|OMIMPS:613280			http://purl.obolibrary.org/obo/MONDO_0000214		SNOMEDCT:768553002|DOID:0080535
MONDO:0002873	obsolete testicular germ cell tumor non-seminomatous	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002873		
MONDO:0000213	autoimmune disease, multisystem, infantile-onset	biolink:Disease	mondo	OMIMPS:615952|DC:0000725|UMLS:CN238808			http://purl.obolibrary.org/obo/MONDO_0000213		UMLS:CN238808
MONDO:0002874	testicular pure germ cell tumor	biolink:Disease	mondo	DOID:4087|UMLS:C1514608|NCIT:C39915		testicular Pure germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0002874	A germ cell tumor that arises from the testis and is characterized by the presence of one histologic component. This category includes seminoma, teratoma, embryonal carcinoma, yolk sac tumor, and trophoblastic tumor.	NCIT:C39915|UMLS:C1514608|DOID:4087
MONDO:0014859	developmental and epileptic encephalopathy, 37	biolink:Disease	mondo	UMLS:C4310770|OMIM:616981|DOID:0080435		DEE37|early infantile epileptic encephalopathy caused by mutation in FRRS1L|epileptic encephalopathy, early infantile, type 37|epileptic encephalopathy, early infantile, 37; EIEE37|epileptic encephalopathy, early infantile, 37|EIEE37|FRRS1L early infantile epileptic encephalopathy	http://purl.obolibrary.org/obo/MONDO_0014859	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FRRS1L gene.	DOID:0080435|http://identifiers.org/omim/616981|UMLS:C4310770
NCBITaxon:169440	Coelopidae	organism taxon	mondo	GC_ID:1		kelp flies|seaweed flies	http://purl.obolibrary.org/obo/NCBITaxon_169440		
MONDO:0002870	tricuspid valve insufficiency	biolink:Disease	mondo	UMLS:C0040961|NCIT:C50842|MESH:D014262|DOID:4080|SCTID:111287006		tricuspid insufficiency|insufficiency, tricuspid|tricuspid valve regurgitation|tricuspid incompetence|tricuspid regurgitation	http://purl.obolibrary.org/obo/MONDO_0002870	The backflow of blood from the right ventricle into the right atrium, owning to imperfect functioning/insufficiency of the tricuspid valve.	UMLS:C0040961|MESH:D014262|SNOMEDCT:111287006|DOID:4080|NCIT:C50842
MONDO:0014858	intellectual disability, autosomal dominant 43	biolink:Disease	mondo	UMLS:C4310771|OMIM:616977|GARD:0013179|DOID:0070073|SCTID:765434008		mental retardation, autosomal dominant 43|autosomal dominant non-syndromic intellectual disability 43|mental retardation, autosomal dominant type 43|autosomal dominant non-syndromic intellectual disability caused by mutation in HIVEP2|MRD43|mental retardation, autosomal dominant 43; MRD43|intellectual disability, autosomal dominant type 43|intellectual disability, autosomal dominant 43|autosomal dominant intellectual disability-43|HIVEP2 autosomal dominant non-syndromic intellectual disability|HIVEP2-related intellectual disability|intellectual disability, autosomal dominant 43; MRD43|autosomal dominant intellectual disability 43|autosomal dominant mental retardation 43	http://purl.obolibrary.org/obo/MONDO_0014858	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the HIVEP2 gene.	http://identifiers.org/omim/616977|DOID:0070073|SNOMEDCT:765434008|UMLS:C4310771
UBERON:0035662	parotid vein	biolink:AnatomicalEntity	mondo			parotid branch of facial vein|anterior parotid vein	http://purl.obolibrary.org/obo/UBERON_0035662		
MONDO:0014864	hypermanganesemia with dystonia 2	biolink:Disease	mondo	SCTID:768554008|DOID:0080537|UMLS:C4310765|Orphanet:521406|OMIM:617013	ordo_disease	SLC39A14 hypermanganesemia with dystonia|hypermanganesemia with dystonia 2; HMNDYT2|hypermanganesemia with dystonia type 2|hypermanganesemia with dystonia caused by mutation in SLC39A14|hypermanganesemia with dystonia 2|HMNDYT2	http://purl.obolibrary.org/obo/MONDO_0014864	Any hypermanganesemia with dystonia in which the cause of the disease is a mutation in the SLC39A14 gene.	ORPHA:521406|UMLS:C4310765|SNOMEDCT:768554008|DOID:0080537|http://identifiers.org/omim/617013
MONDO:0012201	obsolete tibia, bowing of, with pseudarthrosis and pectus excavatum	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0012201		
MONDO:0014863	macrocephaly, dysmorphic facies, and psychomotor retardation	biolink:Disease	mondo	OMIM:617011|UMLS:C4310766		MDFPMR|macrocephaly, dysmorphic facies, and psychomotor retardation; MDFPMR|macrocephaly, dysmorphic facies, and psychomotor retardation	http://purl.obolibrary.org/obo/MONDO_0014863		UMLS:C4310766|http://identifiers.org/omim/617011
MONDO:0012202	malaria, mild, susceptibility to	biolink:Disease	mondo	OMIM:609148	predisposition	Mals|malaria, mild, susceptibility to|susceptibility to mild malaria	http://purl.obolibrary.org/obo/MONDO_0012202		http://identifiers.org/omim/609148
MONDO:0014862	cerebral palsy, spastic quadriplegic, 3	biolink:Disease	mondo	UMLS:C4310767|OMIM:617008		spastic quadriplegia caused by mutation in ADD3|CPSQ3|cerebral palsy, spastic quadriplegic, 3; CPSQ3|cerebral palsy, spastic quadriplegic, 3|ADD3 spastic quadriplegia|cerebral palsy, spastic quadriplegic, type 3	http://purl.obolibrary.org/obo/MONDO_0014862	Any spastic quadriplegia in which the cause of the disease is a mutation in the ADD3 gene.	UMLS:C4310767|http://identifiers.org/omim/617008
MONDO:0014861	autoimmune disease, multisystem, infantile-onset, 2	biolink:Disease	mondo	OMIM:617006|UMLS:C4310768		autoimmune disease, multisystem, infantile-onset, type 2|autoimmune disease, multisystem, infantile-onset, 2|ZAP70 autoimmune disease, multisystem, infantile-onset|autoimmune disease, multisystem, infantile-onset caused by mutation in ZAP70|autoimmune disease, multisystem, infantile-onset, 2; ADMIO2|ADMIO2	http://purl.obolibrary.org/obo/MONDO_0014861	Any autoimmune disease, multisystem, infantile-onset in which the cause of the disease is a mutation in the ZAP70 gene.	UMLS:C4310768|http://identifiers.org/omim/617006
MONDO:0012200	posterior polymorphous corneal dystrophy 3	biolink:Disease	mondo	OMIM:609141|ICD10:H18.50|UMLS:C1836724|MESH:C563788|DOID:0110857		posterior polymorphous corneal dystrophy type 3|corneal dystrophy, posterior polymorphous, type 3|ZEB1 posterior polymorphous corneal dystrophy|posterior polymorphous corneal dystrophy caused by mutation in ZEB1|PPCD3|corneal dystrophy, POSTERIOR polymorphous, 3|corneal dystrophy, POSTERIOR polymorphous, 3; PPCD3|Ppcd3	http://purl.obolibrary.org/obo/MONDO_0012200	Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the ZEB1 gene.	DOID:0110857|MESH:C563788|UMLS:C1836724|http://identifiers.org/omim/609141
MONDO:0014868	developmental and epileptic encephalopathy, 38	biolink:Disease	mondo	DOID:0080417|OMIM:617020|UMLS:C4310762		ARV1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 38|DEE38|EIEE38|epileptic encephalopathy, early infantile, type 38|early infantile epileptic encephalopathy caused by mutation in ARV1|epileptic encephalopathy, early infantile, 38; EIEE38	http://purl.obolibrary.org/obo/MONDO_0014868	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARV1 gene.	http://identifiers.org/omim/617020|UMLS:C4310762|DOID:0080417
MONDO:0012205	autosomal dominant striatal neurodegeneration type 1	biolink:Disease	mondo	OMIM:609161|SCTID:725392005	ordo_disease	striatal degeneration, autosomal dominant caused by mutation in PDE8B|striatal degeneration, autosomal dominant|ADSD1|striatal degeneration, autosomal dominant; ADSD|striatal degeneration, autosomal dominant 1; ADSD1|striatal Degeneration, autosomal dominant 1|ADSD|autosomal dominant striatal neurodegeneration|PDE8B striatal degeneration, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0012205	Autosomal dominant striatal degeneration is a neurologic disorder characterized by variable movement abnormalities due to dysfunction in the striatal part of the basal ganglia.	SNOMEDCT:725392005|http://identifiers.org/omim/609161
MONDO:0014867	spinocerebellar ataxia 43	biolink:Disease	mondo	OMIM:617018|DOID:0111745|UMLS:C4310763|Orphanet:497764|EFO:0009060		autosomal dominant cerebellar ataxia caused by mutation in MME|spinocerebellar ataxia 43; SCA43|SCA43|spinocerebellar ataxia type 43|MME autosomal dominant cerebellar ataxia|spinocerebellar ataxia 43	http://purl.obolibrary.org/obo/MONDO_0014867	Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor.	DOID:0111745|http://identifiers.org/omim/617018|ORPHA:497764|UMLS:C4310763
MONDO:0012206	Czech dysplasia, metatarsal type	biolink:Disease	mondo	SCTID:720826006|ICD10:Q77.7|GARD:0010220|Orphanet:137678|MESH:C535766|OMIM:609162	ordo_disease|gard_rare	Czech dysplasia|Czech dysplasia, metatarsal type|Czech dysplasia metatarsal type|pseudorheumatoid dysplasia progressive, with hypoplastic toes|spondyloepiphyseal dysplasia with precocious osteoarthritis|pseudorheumatoid dysplasia, progressive, with hypoplastic toes	http://purl.obolibrary.org/obo/MONDO_0012206	Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterised by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes.	SNOMEDCT:720826006|MESH:C535766|UMLS:C1836683|http://identifiers.org/omim/609162|ORPHA:137678
MONDO:0014866	Charcot-Marie-Tooth disease axonal type 2T	biolink:Disease	mondo	OMIM:617017|ICD10:G60.0|UMLS:C4015635|Orphanet:443950|DOID:0110160	ordo_disease	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2T|AR-CMT2T|DNAJB2-related Charcot-Marie-Tooth disease type 2|autosomal recessive axonal Charcot-Marie-Tooth disease type 2T|Charcot-Marie-Tooth disease, axonal, type 2t|Charcot-Marie-Tooth disease, axonal, type 2T; CMT2T|DNAJB2-related CMT2|CMT2T|Charcot-Marie-Tooth neuropathy type 2T|Charcot-Marie-Tooth neuropathy, type 2T	http://purl.obolibrary.org/obo/MONDO_0014866	A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25.	DOID:0110160|http://identifiers.org/omim/617017|ORPHA:443950|UMLS:C4015635
MONDO:0012203	familial hyperthyroidism due to mutations in TSH receptor	biolink:Disease	mondo	UMLS:C1836706|ICD10:E05.8|Orphanet:424|OMIM:609152|MESH:C563786|GARD:0002858	ordo_disease	hyperthyroidism, Nonautoimmune, autosomal dominant|resistance to thyroid stimulating hormone|familial non-immune hyperthyroidism|toxic thyroid hyperplasia, autosomal dominant|Nonautoimmune hyperthyroidism|hyperthyroidism, congenital Nonautoimmune|hyperthyroidism, NONAUTOIMMUNE	http://purl.obolibrary.org/obo/MONDO_0012203	Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.	MESH:C563786|UMLS:C1836706|http://identifiers.org/omim/609152|ORPHA:424
MONDO:0014865	autosomal recessive severe congenital neutropenia due to CSF3R deficiency	biolink:Disease	mondo	ICD10:D70|Orphanet:420702|UMLS:C4310764|OMIM:617014	ordo_disease	SCN7|neutropenia, Severe congenital, 7, autosomal recessive|neutropenia, severe congenital, 7, autosomal recessive; SCN7	http://purl.obolibrary.org/obo/MONDO_0014865		http://identifiers.org/omim/617014|ORPHA:420702|UMLS:C4310764
MONDO:0012204	familial pseudohyperkalemia	biolink:Disease	mondo	UMLS:C4273970|Orphanet:90044|UMLS:C1836705|OMIM:609153|SCTID:717254007|ICD10:D58.8|MESH:C563785	ordo_disease	cryohydrocytosis, mild|pseudohyperkalemia, familial, 2, due to RED cell leak; PSHK2|pseudohyperkalemia East London|pseudohyperkalemia Chiswick|pseudohyperkalemia Falkirk|pseudohyperkalemia, familial, 2, due to RED cell leak|pseudohyperkalemia Lille|Pshk2	http://purl.obolibrary.org/obo/MONDO_0012204	An inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis.	SNOMEDCT:717254007|MESH:C563785|UMLS:C1836705|http://identifiers.org/omim/609153|ORPHA:90044|UMLS:C4273970
MONDO:0000209	prenatal-onset spinal muscular atrophy with congenital bone fractures	biolink:Disease	mondo	Orphanet:486811|UMLS:CN238807|OMIMPS:616866|DC:0000720	ordo_disease	SMABF|spinal muscular atrophy with congenital bone fractures	http://purl.obolibrary.org/obo/MONDO_0000209		UMLS:CN238807|ORPHA:486811
MONDO:0000208	microcephaly, short stature, and impaired glucose metabolism 1	biolink:Disease	mondo	DC:0000719|UMLS:C4014997|OMIM:616033		MSSGM|microcephaly, short stature, and impaired glucose metabolism|microcephaly, short stature, and impaired glucose metabolism 1; MSSGM1|microcephaly, short stature, and impaired glucose metabolism 1|microcephaly, short stature, and impaired glucose metabolism; MSSGM|MSSGM1	http://purl.obolibrary.org/obo/MONDO_0000208		http://identifiers.org/omim/616033|UMLS:C4014997
GO:0036094	small molecule binding	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0036094	Interacting selectively and non-covalently with a small molecule, any low molecular weight, monomeric, non-encoded molecule.	
MONDO:0000207	obsolete hypotonia, infantile, with psychomotor retardation and characteristic facies	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000207		
MONDO:0000206	obsolete cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy	biolink:Disease	mondo			CADASIL|obsolete cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy; CADASIL	http://purl.obolibrary.org/obo/MONDO_0000206		
MONDO:0002868	bile duct mucinous cystic neoplasm with an associated invasive carcinoma	biolink:Disease	mondo	ICDO:8161/3|NCIT:C4130|DOID:4075|UMLS:C0334286		bile duct cystadenocarcinoma (morphologic abnormality)|bile duct cystadenocarcinoma|cystadenocarcinoma of the bile duct|cystadenocarcinoma of bile duct|biliary cystadenocarcinoma|bile duct mucinous cystic neoplasm with an associated invasive carcinoma	http://purl.obolibrary.org/obo/MONDO_0002868	A mucinous cystic neoplasm that arises from the intrahepatic or extrahepatic bile ducts and it is associated with an invasive carcinomatous component.	DOID:4075|NCIT:C4130|UMLS:C0334286
MONDO:0014860	polycystic liver disease 2	biolink:Disease	mondo	OMIM:617004|UMLS:C4310769		polycystic liver disease 2; PCLD2|polycystic liver disease 2|polycystic liver disease type 2|PCLD2|polycystic liver disease 2 with or without kidney cysts|polycystic liver disease 2 with or without kidney cysts; PCLD2	http://purl.obolibrary.org/obo/MONDO_0014860	Any polycystic kidney disease in which the cause of the disease is a mutation in the SEC63 gene.	UMLS:C4310769|http://identifiers.org/omim/617004
MONDO:0002869	heart valve disease	biolink:Disease	mondo	ICD9:424.99|DOID:4079|UMLS:C0018824|SCTID:368009|NCIT:C45525|MESH:D006349		disorder of heart valve|valvular heart disorder|valvular heart disease|heart valve disorder|disease of cardial valve|cardial valve disease or disorder|disorder of cardial valve|disorder of cardial valve|cardial valve disease|disease or disorder of cardial valve	http://purl.obolibrary.org/obo/MONDO_0002869	A disease involving the cardial valve.	DOID:4079|NCIT:C45525|MESH:D006349|UMLS:C0018824|SNOMEDCT:368009
MONDO:0002886	common bile duct disease	biolink:Disease	mondo	MESH:D003137|DOID:4137|UMLS:C0009440		common bile duct disease or disorder|disorder of common bile duct|disease of common bile duct|disease or disorder of common bile duct|disorder of common bile duct|common bile duct disease	http://purl.obolibrary.org/obo/MONDO_0002886	A disease involving the common bile duct.	MESH:D003137|UMLS:C0009440|DOID:4137
MONDO:0000223	obsolete chikungunya	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000223		
MONDO:0002887	bile duct disease	biolink:Disease	mondo	NCIT:C96716|UMLS:C0005395|SCTID:118926004|MESH:D001649|DOID:4138		disease of bile duct|bile duct disease or disorder|bile duct disorder|disorder of bile duct|disorder of bile duct|bile duct disease|disease or disorder of bile duct	http://purl.obolibrary.org/obo/MONDO_0002887	A disease involving the bile duct.	SNOMEDCT:118926004|UMLS:C0005395|NCIT:C96716|MESH:D001649|DOID:4138
MONDO:0000222	seminal vesicle acute gonorrhea	biolink:Disease	mondo	SCTID:65049003|DOID:0050004|UMLS:C0153194		acute gonococcal seminal vesiculitis|gonococcal seminal vesiculitis, acute	http://purl.obolibrary.org/obo/MONDO_0000222	Acute form of gonococcal seminal vesiculitis.	UMLS:C0153194|DOID:0050004|SNOMEDCT:65049003
MONDO:0002888	intraorbital meningioma	biolink:Disease	mondo	UMLS:C1334261|DOID:4141|NCIT:C6778		intraorbital meningioma	http://purl.obolibrary.org/obo/MONDO_0002888	A meningioma that affects the intraorbital structures.	NCIT:C6778|UMLS:C1334261|DOID:4141
MONDO:0000221	obsolete cerebroretinal microangiopathy with calcifications and cysts	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000221		
MONDO:0002889	orbital cancer	biolink:Disease	mondo	ICD9:239.89|DOID:4143|SCTID:127003006|EFO:0007408|ICD9:190.1|NCIT:C3562|ICD10:C69.6		malignant orbital tumor|malignant tumor of orbit|malignant orbital neoplasm|cancer of orbit of skull|orbit of skull cancer|malignant neoplasm of orbit|malignant orbit neoplasm|orbit cancer|neoplasm of orbit proper|malignant neoplasm of the orbit|malignant orbit of skull neoplasm|malignant neoplasm of orbit of skull|malignant orbit tumor|orbital tumor|malignant tumor of the orbit	http://purl.obolibrary.org/obo/MONDO_0002889	A primary or metastatic malignant neoplasm involving the orbit.	NCIT:C3562|SNOMEDCT:127003006|DOID:4143
MONDO:0000220	obsolete anterior segment dysgenesis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000220		
MONDO:0000227	African tick-bite fever	biolink:Disease	mondo	DOID:0050035|UMLS:C1320317|SCTID:415561000		Rickettsia africae spotted fever|South African tick-bite fever	http://purl.obolibrary.org/obo/MONDO_0000227		SNOMEDCT:415561000|UMLS:C1320317|DOID:0050035
MONDO:0002882	colon neuroendocrine neoplasm	biolink:Disease	mondo	NCIT:C5697|UMLS:C1333097|Orphanet:100080|DOID:4118		neuroendocrine tumor of the colon|colonic neuroendocrine neoplasm|colon neuroendocrine neoplasm|colon neuroendocrine tumor, well differentiated, low or intermediate grade|colon neuroendocrine tumor|colonic neuroendocrine tumor|colon NET|colon neuroendocrine tumor|neuroendocrine neoplasm of colon|neuroendocrine neoplasm of the colon	http://purl.obolibrary.org/obo/MONDO_0002882	A neoplasm with neuroendocrine differentiation that arises from the colon. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).	NCIT:C5697|ORPHA:100080|UMLS:C1333097|DOID:4118
MONDO:0002883	intestinal neuroendocrine neoplasm	biolink:Disease	mondo	NCIT:C5695|UMLS:C1334231|DOID:4119		neuroendocrine neoplasm of intestine|intestine neuroendocrine tumor|neuroendocrine neoplasm of the intestine|neuroendocrine tumor of intestine|intestinal neuroendocrine neoplasm|intestine neuroendocrine tumor|intestine neuroendocrine neoplasm|intestine NET|intestinal neuroendocrine benign tumor|intestine neuroendocrine tumor, well differentiated, low or intermediate grade	http://purl.obolibrary.org/obo/MONDO_0002883	A neoplasm with neuroendocrine differentiation that arises from the small or large intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).	NCIT:C5695|UMLS:C1334231|DOID:4119
MONDO:0000226	mineral metabolism disease	biolink:Disease	mondo	ICD9:275.8|ICD10:E83|SCTID:45744005|ICD9:275.9		disorder of mineral metabolism|disease of mineral metabolism	http://purl.obolibrary.org/obo/MONDO_0000226		SNOMEDCT:45744005
MONDO:0002884	nail disease	biolink:Disease	mondo	UMLS:C0027339|SCTID:17790008|ICD10:L60|MESH:D009260|ICD9:703.8|ICD10:L60.9|ICD9:703|ICD9:703.9|DOID:4123		disorder of nail|disease or disorder of nail|disease of nail|nail disease|nail disease or disorder|disorder of nail	http://purl.obolibrary.org/obo/MONDO_0002884	A disease involving the nail.	UMLS:C0027339|MESH:D009260|DOID:4123|SNOMEDCT:17790008
MONDO:0000225	human monocytic ehrlichiosis	biolink:Disease	mondo	ICD9:082.41|SCTID:359747000|UMLS:C1282983|GARD:0000072|DOID:0050026	gard_rare	ehrlichiosis chafeensis|Human ehrlichial infection, human monocytic type|human ehrlichiosis caused by Ehrlichia chaffeensis|HME|human ehrlichiosis due to Ehrlichia chaffeensis	http://purl.obolibrary.org/obo/MONDO_0000225	A form of ehrlichiosis associated with Ehrlichia chaffeensis, an obligate intracellular pathogen affecting monocytes and macrophages.	UMLS:C1282983|SNOMEDCT:359747000|DOID:0050026
MONDO:0000224	acquired carbohydrate metabolism disease	biolink:Disease	mondo	DOID:0050013		carbohydrate metabolism disease	http://purl.obolibrary.org/obo/MONDO_0000224	An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolism.	DOID:0050013
MONDO:0002885	erythrasma	biolink:Disease	mondo	SCTID:264207005|DOID:4131|UMLS:C2364003|ICD9:041.85|EFO:1000696|UMLS:C0014752|ICD10:L08.1|MESH:D004894		infection due to Corynebacterium minutissimum	http://purl.obolibrary.org/obo/MONDO_0002885	A chronic bacterial infection of major folds of the skin, caused by Corynebacterium minutissimum.	UMLS:C2364003|MESH:D004894|SNOMEDCT:264207005|UMLS:C0014752|DOID:4131
MONDO:0014849	autosomal recessive nonsyndromic deafness 105	biolink:Disease	mondo	OMIM:616958|DOID:0110466|UMLS:C4310777|ICD10:H90.3		DFNB105|deafness, autosomal recessive 105|deafness, autosomal recessive type 105|deafness, autosomal recessive 105; DFNB105|autosomal recessive nonsyndromic deafness caused by mutation in CDC14A|autosomal recessive deafness 105|autosomal recessive nonsyndromic deafness type 105|CDC14A autosomal recessive nonsyndromic deafness	http://purl.obolibrary.org/obo/MONDO_0014849	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CDC14A gene.	UMLS:C4310777|DOID:0110466|http://identifiers.org/omim/616958
MONDO:0002880	ovarian adenosarcoma	biolink:Disease	mondo	NCIT:C7317|UMLS:C1335169|DOID:4115		ovarian adenosarcoma|ovarian Mullerian adenosarcoma|ovarian mullerian adenosarcoma|adenosarcoma of ovary|ovary adenosarcoma|ovarian Müllerian adenosarcoma|ovarian mesodermal adenosarcoma	http://purl.obolibrary.org/obo/MONDO_0002880	A biphasic neoplasm that arises from the ovary and is characterized by the presence of mullerian-type epithelial tissue in a mesenchymal sarcomatous stroma. The presence of a high grade sarcomatous component is associated with recurrences and metastases.	UMLS:C1335169|DOID:4115|NCIT:C7317
MONDO:0014848	TELO2-related intellectual disability-neurodevelopmental disorder	biolink:Disease	mondo	EFO:0009061|Orphanet:488642|OMIM:616954|UMLS:C4310778	ordo_malformation_syndrome	you-Hoover-Fong syndrome|YHFS|you-Hoover-Fong syndrome; YHFS	http://purl.obolibrary.org/obo/MONDO_0014848		UMLS:C4310778|ORPHA:488642|http://identifiers.org/omim/616954
MONDO:0002881	vaginal adenosarcoma	biolink:Disease	mondo	UMLS:C1519914|DOID:4117|NCIT:C40277		vaginal adenosarcoma|adenosarcoma of vagina|vaginal Mullerian adenosarcoma|vagina adenosarcoma|vaginal Müllerian adenosarcoma	http://purl.obolibrary.org/obo/MONDO_0002881	A malignant mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant mesenchymal component and a benign or atypical mullerian-type epithelial component.	UMLS:C1519914|NCIT:C40277|DOID:4117
MONDO:0014847	spermatogenic failure 15	biolink:Disease	mondo	OMIM:616950|DOID:0070172|UMLS:C4310779		SPGF15|spermatogenic failure type 15|spermatogenic failure 15|spermatogenic failure 15; SPGF15|SYCE1 azoospermia|azoospermia caused by mutation in SYCE1	http://purl.obolibrary.org/obo/MONDO_0014847	Any azoospermia in which the cause of the disease is a mutation in the SYCE1 gene.	http://identifiers.org/omim/616950|DOID:0070172|UMLS:C4310779
MONDO:0014853	autosomal dominant nonsyndromic deafness 70	biolink:Disease	mondo	OMIM:616968|ICD10:H90.3|DOID:0110592|UMLS:C4310775		deafness, autosomal dominant 70; DFNA70|autosomal dominant nonsyndromic deafness type 70|autosomal dominant deafness 70|autosomal dominant nonsyndromic deafness caused by mutation in MCM2|DFNA70|deafness, autosomal dominant type 70|MCM2 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 70	http://purl.obolibrary.org/obo/MONDO_0014853	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MCM2 gene.	DOID:0110592|http://identifiers.org/omim/616968|UMLS:C4310775
MONDO:0014852	obsolete palmoplantar carcinoma, multiple self-healing	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0014852		
NCBITaxon:169449	Coelopinae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_169449		
MONDO:0014851	hypercalcemia, infantile 2	biolink:Disease	mondo	OMIM:616963|UMLS:CN847585|UMLS:C4310473|UMLS:CN262351|UMLS:CN774236		hypercalcemia, infantile, type 2|HCINF2|hypercalcemia, infantile, 2|SLC34A1 autosomal recessive infantile hypercalcemia|autosomal recessive infantile hypercalcemia caused by mutation in SLC34A1	http://purl.obolibrary.org/obo/MONDO_0014851	Any autosomal recessive infantile hypercalcemia in which the cause of the disease is a mutation in the SLC34A1 gene.	UMLS:CN774236|http://identifiers.org/omim/616963|UMLS:CN262351|UMLS:C4310473|UMLS:CN847585
MONDO:0014850	retinitis pigmentosa and erythrocytic microcytosis	biolink:Disease	mondo	UMLS:C4310776|OMIM:616959		retinitis pigmentosa and erythrocytic microcytosis; RPEM|RPEM|retinitis pigmentosa and erythrocytic microcytosis|RPEM	http://purl.obolibrary.org/obo/MONDO_0014850		http://identifiers.org/omim/616959|UMLS:C4310776
MONDO:0014857	neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	biolink:Disease	mondo	OMIM:616975|MONDO:0044630|Orphanet:494344|UMLS:C4310772		NEDBEH|neurodevelopmental disorder with or without anomalies of the brain, eye, or heart|rere-related neurodevelopmental syndrome|neurodevelopmental disorder with or without anomalies of the brain, eye, or heart; NEDBEH	http://purl.obolibrary.org/obo/MONDO_0014857		ORPHA:494344|http://identifiers.org/omim/616975|UMLS:C4310772
MONDO:0014856	combined oxidative phosphorylation defect type 30	biolink:Disease	mondo	EFO:0009038|Orphanet:478042|DOID:0111471|UMLS:C4310773|OMIM:616974	ordo_disease	combined oxidative phosphorylation deficiency caused by mutation in TRMT10C|combined oxidative phosphorylation deficiency type 30|COXPD30|combined oxidative phosphorylation deficiency 30; COXPD30|combined oxidative phosphorylation deficiency 30|TRMT10C combined oxidative phosphorylation deficiency	http://purl.obolibrary.org/obo/MONDO_0014856	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT10C gene.	DOID:0111471|http://identifiers.org/omim/616974|UMLS:C4310773|ORPHA:478042
MONDO:0014855	intellectual disability, autosomal dominant 42	biolink:Disease	mondo	OMIM:616973|DOID:0070072|UMLS:C4310774		intellectual disability, autosomal dominant 42|intellectual disability, autosomal dominant type 42|mental retardation, autosomal dominant 42|mental retardation, autosomal dominant type 42|intellectual disability, autosomal dominant 42; MRD42|GNB1 autosomal dominant non-syndromic intellectual disability|MRD42|Gnb1 autosomal dominant non-syndromic intellectual disability|mental retardation, autosomal dominant 42; MRD42|autosomal dominant intellectual disability 42|autosomal dominant non-syndromic intellectual disability caused by mutation in Gnb1|autosomal dominant non-syndromic intellectual disability caused by mutation in GNB1|autosomal dominant non-syndromic intellectual disability 42|autosomal dominant mental retardation 42	http://purl.obolibrary.org/obo/MONDO_0014855	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GNB1 gene.	DOID:0070072|http://identifiers.org/omim/616973|UMLS:C4310774
MONDO:0014854	autosomal dominant nonsyndromic deafness 66	biolink:Disease	mondo	DOID:0110587|UMLS:C4283893|ICD10:H90.3|OMIM:616969		CD164 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 66; DFNA66|autosomal dominant deafness 66|deafness, autosomal dominant type 66|DFNA66|deafness, autosomal dominant 66|autosomal dominant nonsyndromic deafness caused by mutation in CD164|autosomal dominant nonsyndromic deafness type 66	http://purl.obolibrary.org/obo/MONDO_0014854	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CD164 gene.	DOID:0110587|UMLS:C4283893|http://identifiers.org/omim/616969
MONDO:0000219	obsolete uncombable hair syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000219		
MONDO:0000218	preimplantation embryonic lethality	biolink:Disease	mondo	UMLS:CN282827|DC:0000733|OMIMPS:616814			http://purl.obolibrary.org/obo/MONDO_0000218		UMLS:CN282827
MONDO:0000217	obsolete Frontometaphyseal dysplasia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000217		
MONDO:0002879	uterine body mixed cancer	biolink:Disease	mondo	DOID:4114|UMLS:C1334628|NCIT:C6311		malignant mixed tumor of corpus uteri|malignant mixed neoplasm of uterine body|malignant mixed neoplasm of the uterine body|malignant body of uterus mixed tumor|malignant corpus uteri mixed tumor|malignant mixed tumor of uterine body|malignant mixed tumor of the uterine body|malignant uterine corpus mixed tumor|malignant uterine body mixed neoplasm|malignant uterine corpus mixed epithelial and mesenchymal neoplasm|malignant mixed neoplasm of body of uterus|malignant mixed neoplasm of corpus uteri|malignant mixed neoplasm of the corpus uteri|malignant mixed neoplasm of the body of uterus|malignant mixed neoplasm of uterine corpus|malignant mixed neoplasm of the uterine corpus|malignant uterine body mixed tumor|malignant mixed tumor of body of uterus|malignant mixed tumor of the corpus uteri|malignant mixed tumor of the body of uterus|malignant corpus uteri mixed neoplasm|malignant body of uterus mixed neoplasm|malignant mixed tumor of uterine corpus|malignant mixed tumor of the uterine corpus	http://purl.obolibrary.org/obo/MONDO_0002879	A primary malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. This category includes carcinosarcoma, carcinofibroma, and adenosarcoma.	NCIT:C6311|UMLS:C1334628|DOID:4114
NCBITaxon:12066	Coxsackievirus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_12066		
NCBITaxon:36087	Trichuris trichiura	organism taxon	mondo	GC_ID:1		human whipworm	http://purl.obolibrary.org/obo/NCBITaxon_36087		
NCBITaxon:36086	Trichuris	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_36086		
HGNC:8927	PHKB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8927		
GO:0061041	regulation of wound healing	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0061041	Any process that modulates the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury.	
GO:0061045	negative regulation of wound healing	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0061045	Any process that decreases the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury.	
HGNC:8931	PHKG2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8931		
UBERON:0011628	early premaxilla	biolink:AnatomicalEntity	mondo			future premaxilla	http://purl.obolibrary.org/obo/UBERON_0011628		
NCBITaxon:169455	Coelopellini	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_169455		
NCBITaxon:2129	Ureaplasma	organism taxon	mondo	PMID:11034506|PMID:8782697|GC_ID:4|PMID:1906731|PMID:2223597			http://purl.obolibrary.org/obo/NCBITaxon_2129		
NCBITaxon:85004	Bifidobacteriales	organism taxon	mondo	PMID:19244447|GC_ID:11|PMID:27446019			http://purl.obolibrary.org/obo/NCBITaxon_85004		
NCBITaxon:85007	Corynebacteriales	organism taxon	mondo	PMID:19244447|GC_ID:11|PMID:30186281|PMID:1736962|PMID:11837321|PMID:31157615		Mycobacteriales|Corynebacterineae	http://purl.obolibrary.org/obo/NCBITaxon_85007		
NCBITaxon:85006	Micrococcales	organism taxon	mondo	PMID:20190019|PMID:19244447|GC_ID:11|PMID:30186281|PMID:19542112|PMID:11837321		Micrococcineae	http://purl.obolibrary.org/obo/NCBITaxon_85006		
GO:0061035	regulation of cartilage development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0061035	Any process that modulates the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate.	
GO:0061036	positive regulation of cartilage development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0061036	Any process that increases the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate.	
HGNC:8941	SERPINA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8941		
GO:0061037	negative regulation of cartilage development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0061037	Any process that decreases the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate.	
HGNC:8943	SERPINI1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8943		
UBERON:0035606	cartilage of external acoustic meatus	biolink:AnatomicalEntity	mondo			external acoustic meatus cartilage|cartilage of auditory canal|cartilago meatus acustici|cartilage of acoustic meatus	http://purl.obolibrary.org/obo/UBERON_0035606		
UBERON:0035608	dura mater lymph vessel	biolink:AnatomicalEntity	mondo			dural lymph vessel|dural lymph vasculature	http://purl.obolibrary.org/obo/UBERON_0035608	Any lymph vessel that is located in the dura mater of the brain.	
GO:0002757	immune response-activating signal transduction	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002757	The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately leading to activation or perpetuation of an immune response.	
GO:0097006	regulation of plasma lipoprotein particle levels	biolink:OntologyClass	mondo			plasma lipoprotein particle homeostasis	http://purl.obolibrary.org/obo/GO_0097006	Any process involved in the maintenance of internal levels of plasma lipoprotein particles within an organism.	
HP:0011804	Abnormal muscle physiology	biolink:PhenotypicFeature	mondo	UMLS:C4023182		Abnormality of muscle physiology|Issue with muscle function	http://purl.obolibrary.org/obo/HP_0011804	A functional abnormality of a skeletal muscle.	
HP:0011805	Abnormal skeletal muscle morphology	biolink:PhenotypicFeature	mondo	UMLS:C4023181		Abnormal muscle morphology|Abnormally shaped muscle|Issue with muscle structure|Abnormality of muscle morphology	http://purl.obolibrary.org/obo/HP_0011805	A structural abnormality of a skeletal muscle.	
HGNC:8940	PHYH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8940		
GO:0002759	regulation of antimicrobial humoral response	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002759	Any process that modulates the frequency, rate, or extent of an antimicrobial humoral response.	
CHEBI:38497	respiratory-chain inhibitor	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_38497		
CHEBI:38496	electron-transport chain inhibitor	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_38496		
GO:0002720	positive regulation of cytokine production involved in immune response	biolink:OntologyClass	mondo			activation of cytokine production during immune response|up regulation of cytokine production during immune response|positive regulation of cytokine biosynthetic process involved in immune response|up-regulation of cytokine production during immune response|positive regulation of cytokine secretion involved in immune response|upregulation of cytokine production during immune response|stimulation of cytokine production during immune response|positive regulation of cytokine production during immune response	http://purl.obolibrary.org/obo/GO_0002720	Any process that activates or increases the frequency, rate, or extent of cytokine production that contributes to an immune response.	
NCBITaxon:4753	Pneumocystis	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_4753		
NCBITaxon:4751	Fungi	organism taxon	mondo	PMID:11062127|PMID:12684019|GC_ID:1		fungi|fungi|Mycota	http://purl.obolibrary.org/obo/NCBITaxon_4751		
CHEBI:51446	organic divalent group	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_51446		
CHEBI:51447	organic univalent group	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_51447		
GO:0014706	striated muscle tissue development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0014706	The process whose specific outcome is the progression of a striated muscle over time, from its formation to the mature structure. Striated muscle contain fibers that are divided by transverse bands into striations, and cardiac and skeletal muscle are types of striated muscle. Skeletal muscle myoblasts fuse to form myotubes and eventually multinucleated muscle fibers. The fusion of cardiac cells is very rare and can only form binucleate cells.	
GO:0061061	muscle structure development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0061061	The progression of a muscle structure over time, from its formation to its mature state. Muscle structures are contractile cells, tissues or organs that are found in multicellular organisms.	
HGNC:8952	SERPINB8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8952		
UBERON:0011602	gingiva of lower jaw	biolink:AnatomicalEntity	mondo			lower jaw gum|lower gum|lower jaw gingiva|lower gingiva|gum of lower jaw|mandibular gum|gum of mandible	http://purl.obolibrary.org/obo/UBERON_0011602	A gingiva that is part of a lower jaw region.	
UBERON:0011601	gingiva of upper jaw	biolink:AnatomicalEntity	mondo			maxillary gum|upper gum|upper jaw gingiva|upper gingiva|gum of upper jaw|gum of maxilla	http://purl.obolibrary.org/obo/UBERON_0011601	A gingiva that is part of a upper jaw region.	
NCBITaxon:12090	Enterovirus D70	organism taxon	mondo	GC_ID:1		Enterovirus type 70|Enterovirus 70|Human enterovirus 70	http://purl.obolibrary.org/obo/NCBITaxon_12090		
HGNC:8957	PIGA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8957		
NCBITaxon:12092	Hepatovirus A	organism taxon	mondo	GC_ID:1		Hepatitis A virus|HAV	http://purl.obolibrary.org/obo/NCBITaxon_12092		
NCBITaxon:12091	Hepatovirus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_12091		
HGNC:8950	SERPINB6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8950		
NCBITaxon:85025	Nocardiaceae	organism taxon	mondo	GC_ID:11|PMID:30186281|PMID:19244447		Williamsiaceae	http://purl.obolibrary.org/obo/NCBITaxon_85025		
GO:0099643	signal release from synapse	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0099643	Any signal release from a synapse.	
NCBITaxon:2104	Mycoplasma pneumoniae	organism taxon	mondo	GC_ID:4|PMID:19871393|PMID:4867945|PMID:29556819|PMID:31971499|PMID:31385780		Schizoplasma pneumoniae|Filterable agent of primary atypical pneumonia|Mycoplasmoides pneumoniae|Mycoplasmoides pneumoniae (Somerson et al. 1963) Gupta et al. 2018	http://purl.obolibrary.org/obo/NCBITaxon_2104		
ENVO:01001813	construction	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001813	A material entity which has been assembled through the intentional, instinctual, or deliberately programmed efforts of an organism or machine.	
NCBITaxon:169495	This	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_169495		
ENVO:01001814	organic object	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001814	An object which is formed as a result of one or more biological processes and is composed primarily of organic material.	
HGNC:8966	PIGL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8966		
HGNC:8967	PIGN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8967		
HGNC:6307	KDR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6307		
MONDO:0002810	pancreatic serous cystic neoplasm	biolink:Disease	mondo	UMLS:C1518875|NCIT:C41248|DOID:3919		pancreatic serous neoplasm|pancreatic serous cystic neoplasm	http://purl.obolibrary.org/obo/MONDO_0002810	A benign or malignant epithelial neoplasm that is usually cystic and arises from the exocrine pancreas. It is characterized by the presence of neoplastic epithelial cells that produce fluid similar to serum. Representative examples include serous cystadenoma and serous cystadenocarcinoma.	NCIT:C41248|DOID:3919|UMLS:C1518875
GO:0099699	integral component of synaptic membrane	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0099699	The component of the synaptic membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.	
MONDO:0002811	main bronchus cancer	biolink:Disease	mondo	DOID:3924|SCTID:372065009|ICD9:162.2|COHD:4157333|ICD10:C34.0|UMLS:C0153490		malignant main bronchus neoplasm|malignant neoplasm of main bronchus|Ca main bronchus|main bronchus cancer|cancer of main bronchus	http://purl.obolibrary.org/obo/MONDO_0002811	A malignant neoplasm involving the main bronchus.	UMLS:C0153490|SNOMEDCT:372065009|DOID:3924
GO:0002700	regulation of production of molecular mediator of immune response	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002700	Any process that modulates the frequency, rate, or extent of the production of molecular mediator of immune response.	
MONDO:0002812	infectious otitis interna	biolink:Disease	mondo	NCIT:C27339|UMLS:C1168225		infectious otitis interna|inner Ear infection|internal Ear infection|infectious labyrinthitis|inner ear infection	http://purl.obolibrary.org/obo/MONDO_0002812	Inflammation of the anatomical structures of the inner ear secondary to an infectious process. Symptoms include severe vertigo, nausea, vomiting, anxiety, and pain. Viral etiology is most common, and recent history of an upper respiratory infection is common. In rare cases an infection of the middle ear can spread to the inner ear, resulting in a bacterial or fungal etiology.	NCIT:C27339|UMLS:C1168225
GO:0002701	negative regulation of production of molecular mediator of immune response	biolink:OntologyClass	mondo			down-regulation of production of molecular mediator of immune response|down regulation of production of molecular mediator of immune response|inhibition of production of molecular mediator of immune response|downregulation of production of molecular mediator of immune response	http://purl.obolibrary.org/obo/GO_0002701	Any process that stops, prevents, or reduces the frequency, rate, or extent of the production of molecular mediator of immune response.	
CHEBI:51422	organodiyl group	biolink:ChemicalSubstance	mondo			organodiyl groups	http://purl.obolibrary.org/obo/CHEBI_51422	Any organic substituent group, regardless of functional type, having two free valences at carbon atom(s).	
NCBITaxon:2157	Archaea	organism taxon	mondo	PMID:11542149|PMID:2112744|PMID:10843050|PMID:10939673|PMID:10939651|PMID:11211268|PMID:11321113|PMID:10490293|PMID:25527841|PMID:10425797|PMID:270744|PMID:10425796|PMID:11411719|PMID:8123559|PMID:10425795|PMID:11542064|GC_ID:11|PMID:11321083|PMID:11540071|PMID:9336922|PMID:11760965|PMID:9103655|PMID:10939677|PMID:8590690|PMID:11541975|PMID:12054223		Procaryotae|Archaebacteria|Monera|prokaryote|Metabacteria|Prokaryotae|Prokaryota|Mendosicutes|archaea|prokaryotes	http://purl.obolibrary.org/obo/NCBITaxon_2157		
HGNC:6309	KERA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6309		
UBERON:0011676	subdivision of organism along main body axis	biolink:AnatomicalEntity	mondo			axial subdivision of organism|body segment|main body segment	http://purl.obolibrary.org/obo/UBERON_0011676	A major subdivision of an organism that divides an organism along its main body axis (typically anterio-posterior axis). In vertebrates, this is based on the vertebral column.	
HGNC:8975	PIK3CA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8975		
HGNC:8977	PIK3CD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8977		
HGNC:6315	KHK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6315		
MONDO:0014802	Cowden syndrome 7	biolink:Disease	mondo	OMIM:616858|UMLS:C4225179		CWS7|Cowden syndrome 7|Cowden syndrome type 7|SEC23B Cowden disease|Cowden disease caused by mutation in SEC23B|Cowden syndrome 7; CWS7	http://purl.obolibrary.org/obo/MONDO_0014802	Any Cowden disease in which the cause of the disease is a mutation in the SEC23B gene.	http://identifiers.org/omim/616858|UMLS:C4225179
HGNC:8979	PIK3R1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8979		
MONDO:0014801	even-plus syndrome	biolink:Disease	mondo	UMLS:C4225180|Orphanet:496751|OMIM:616854	ordo_malformation_syndrome	even-plus syndrome; EVPLS|epiphyseal and vertebral dysplasia, microtia, and flat Nose, plus associated malformations|EVPLS|even-plus syndrome|epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome	http://purl.obolibrary.org/obo/MONDO_0014801		ORPHA:496751|UMLS:C4225180|http://identifiers.org/omim/616854
HGNC:6317	KIF1C	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6317		
MONDO:0014800	progressive scapulohumeroperoneal distal myopathy	biolink:Disease	mondo	UMLS:C4225181|ICD10:G71.0|OMIM:616852|Orphanet:447977	ordo_disease	myopathy, scapulohumeroperoneal; SHPM|myopathy, scapulohumeroperoneal|SHPM	http://purl.obolibrary.org/obo/MONDO_0014800		UMLS:C4225181|ORPHA:447977|http://identifiers.org/omim/616852
HGNC:6318	KIF2A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6318		
MONDO:0002806	bronchogenic carcinoma	biolink:Disease	mondo	CSP:2017-6052|MESH:D002283|UMLS:C0007121|DOID:3904|ICD9:162.9|EFO:1001942|NCIT:C35875|SCTID:254622008		bronchogenic lung carcinoma|carcinoma of bronchus|bronchial carcinoma|bronchiogenic carcinoma|bronchogenic carcinoma|bronchus carcinoma|carcinoma, bronchial, malignant|BC - bronchogenic carcinoma|bronchogenic lung cancer	http://purl.obolibrary.org/obo/MONDO_0002806	A lung carcinoma arising from the bronchial epithelium.	DOID:3904|MESH:D002283|NCIT:C35875|SNOMEDCT:254622008|UMLS:C0007121
GO:0002706	regulation of lymphocyte mediated immunity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002706	Any process that modulates the frequency, rate, or extent of lymphocyte mediated immunity.	
MONDO:0002807	bronchial neoplasm (disease)	biolink:Disease	mondo	UMLS:C0006264|EFO:1000849|SCTID:126705004|HP:0030077|DOID:3906|MESH:D001984		tumor of bronchus|bronchus neoplasm|neoplasm of bronchus|bronchus tumor|bronchial neoplasm|bronchus neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0002807	Tumors or cancer of the bronchi.	SNOMEDCT:126705004|DOID:3906|MESH:D001984|UMLS:C0006264
GO:0002707	negative regulation of lymphocyte mediated immunity	biolink:OntologyClass	mondo			downregulation of lymphocyte mediated immunity|down regulation of lymphocyte mediated immunity|inhibition of lymphocyte mediated immunity|down-regulation of lymphocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002707	Any process that stops, prevents, or reduces the frequency, rate, or extent of lymphocyte mediated immunity.	
MONDO:0002808	pancreatic serous cystadenoma	biolink:Disease	mondo	DOID:3917|ONCOTREE:PSC|UMLS:C1335316|NCIT:C5712		pancreatic serous cystadenoma|pancreatic microcystic adenoma|serous cystadenoma of pancreas|serous cystadenoma of the pancreas|pancreas serous cystadenoma|PSC	http://purl.obolibrary.org/obo/MONDO_0002808	A benign, non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of glycogen-rich epithelial cells which produce a watery fluid. Signs and symptoms include abdominal mass, abdominal pain, nausea, vomiting, and weight loss.	DOID:3917|NCIT:C5712|UMLS:C1335316
GO:0002708	positive regulation of lymphocyte mediated immunity	biolink:OntologyClass	mondo			stimulation of lymphocyte mediated immunity|up regulation of lymphocyte mediated immunity|up-regulation of lymphocyte mediated immunity|activation of lymphocyte mediated immunity|upregulation of lymphocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002708	Any process that activates or increases the frequency, rate, or extent of lymphocyte mediated immunity.	
GO:0002709	regulation of T cell mediated immunity	biolink:OntologyClass	mondo			regulation of T-lymphocyte mediated immunity|regulation of T-cell mediated immunity|regulation of T lymphocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002709	Any process that modulates the frequency, rate, or extent of T cell mediated immunity.	
MONDO:0002809	pancreatic cystadenoma	biolink:Disease	mondo	DOID:3918|UMLS:C0341486|NCIT:C4374|SCTID:235967003		exocrine pancreas cystadenoma|pancreatic cystadenoma|cystadenoma of pancreas|cystadenoma of the pancreas	http://purl.obolibrary.org/obo/MONDO_0002809	A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas.	UMLS:C0341486|DOID:3918|SNOMEDCT:235967003|NCIT:C4374
HP:0011858	Reduced factor IX activity	biolink:PhenotypicFeature	mondo	UMLS:C4023159		Low factor IX activity	http://purl.obolibrary.org/obo/HP_0011858	Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.	
GO:0002702	positive regulation of production of molecular mediator of immune response	biolink:OntologyClass	mondo			stimulation of production of molecular mediator of immune response|upregulation of production of molecular mediator of immune response|up-regulation of production of molecular mediator of immune response|up regulation of production of molecular mediator of immune response|activation of production of molecular mediator of immune response	http://purl.obolibrary.org/obo/GO_0002702	Any process that activates or increases the frequency, rate, or extent of the production of molecular mediator of immune response.	
MONDO:0002802	functional colonic disease	biolink:Disease	mondo	DOID:3877|UMLS:C0009374|MESH:D003109			http://purl.obolibrary.org/obo/MONDO_0002802	Chronic or recurrent colonic disorders without an identifiable structural or biochemical explanation. The widely recognized irritable bowel syndrome falls into this category.	MESH:D003109|UMLS:C0009374|DOID:3877
MONDO:0002803	intestinal pseudo-obstruction	biolink:Disease	mondo	EFO:1000988|SCTID:235825006|DOID:3878|NCIT:C34733|MESH:D007418|GARD:0006789|ICD9:569.89	gard_rare	pseudo-obstruction of intestine|intestinal pseudo-obstruction|intestinal pseudoobstruction|hollow visceral myopathy|intestine pseudoobstruction	http://purl.obolibrary.org/obo/MONDO_0002803	Intestinal pseudo-obstruction is a digestive disorder in whichthe intestinal walls are unable to contract normally (called hypomotility); the conditionresembles a true obstruction, but no actual blockage exists. Signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrients leading to weight loss and/or failure to thrive ; and other symptoms. It may be classified as neuropathic (from lack of nerve function)or myopathic (from lack of muscle function), depending on the source of the abnormality. The condition is sometimes inherited (in an X-linked recessive or autosomal dominant manner)and may be caused by mutations in the FLNA gene; it may also be acquired after certain illnesses. The goal of treatment is to provide relief from symptoms andensure that nutritional support is adequate.	NCIT:C34733|SNOMEDCT:235825006|MESH:D007418|DOID:3878
GO:0002703	regulation of leukocyte mediated immunity	biolink:OntologyClass	mondo			regulation of immune cell mediated immunity|regulation of leucocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002703	Any process that modulates the frequency, rate, or extent of leukocyte mediated immunity.	
GO:0002704	negative regulation of leukocyte mediated immunity	biolink:OntologyClass	mondo			down-regulation of leukocyte mediated immunity|down regulation of leukocyte mediated immunity|downregulation of leukocyte mediated immunity|inhibition of leukocyte mediated immunity|negative regulation of immune cell mediated immunity|negative regulation of leucocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002704	Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte mediated immunity.	
MONDO:0002804	apocrine adenoma	biolink:Disease	mondo	NCIT:C4168|SCTID:307596009|DOID:3895|ICDO:8401/0|UMLS:C0334345		tubular apocrine adenoma	http://purl.obolibrary.org/obo/MONDO_0002804	A benign epithelial neoplasm arising from the apocrine sweat glands. Representative examples include tubular apocrine adenoma and external auditory canal ceruminous adenoma.	NCIT:C4168|UMLS:C0334345|SNOMEDCT:307596009|DOID:3895
MONDO:0002805	hidradenoma	biolink:Disease	mondo	NCIT:C7563|DOID:3896		Syringoadenoma|hidradenoma of skin|hidradenoma|eccrine acrospiroma|sweat gland adenoma|acrospiroma	http://purl.obolibrary.org/obo/MONDO_0002805	A benign epithelial neoplasm arising from the sweat glands. Variants include the clear cell and nodular hidradenoma.	NCIT:C7563|DOID:3896
GO:0002705	positive regulation of leukocyte mediated immunity	biolink:OntologyClass	mondo			upregulation of leukocyte mediated immunity|positive regulation of immune cell mediated immunity|positive regulation of leucocyte mediated immunity|up-regulation of leukocyte mediated immunity|up regulation of leukocyte mediated immunity|activation of leukocyte mediated immunity|stimulation of leukocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002705	Any process that activates or increases the frequency, rate, or extent of leukocyte mediated immunity.	
MONDO:0002820	obsolete thyroid carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002820		
GO:0002710	negative regulation of T cell mediated immunity	biolink:OntologyClass	mondo			negative regulation of T-lymphocyte mediated immunity|downregulation of T cell mediated immunity|down regulation of T cell mediated immunity|inhibition of T cell mediated immunity|down-regulation of T cell mediated immunity|negative regulation of T-cell mediated immunity|negative regulation of T lymphocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002710	Any process that stops, prevents, or reduces the frequency, rate, or extent of T cell mediated immunity.	
MONDO:0002821	trabecular follicular adenocarcinoma	biolink:Disease	mondo	DOID:3964|UMLS:C0334327		follicular adenocarcinoma, trabecular|follicular adenocarcinoma, trabecular (morphologic abnormality)|trabecular follicular carcinoma	http://purl.obolibrary.org/obo/MONDO_0002821		DOID:3964|UMLS:C0334327
GO:0002711	positive regulation of T cell mediated immunity	biolink:OntologyClass	mondo			stimulation of T cell mediated immunity|up regulation of T cell mediated immunity|positive regulation of T-cell mediated immunity|positive regulation of T lymphocyte mediated immunity|up-regulation of T cell mediated immunity|activation of T cell mediated immunity|positive regulation of T-lymphocyte mediated immunity|upregulation of T cell mediated immunity	http://purl.obolibrary.org/obo/GO_0002711	Any process that activates or increases the frequency, rate, or extent of T cell mediated immunity.	
MONDO:0002822	trabecular adenocarcinoma	biolink:Disease	mondo	ICDO:8190/3|DOID:3965|ICDO:8332/3|UMLS:C0302182|NCIT:C4068		trabecular adenocarcinoma (morphologic abnormality)|trabecular adenocarcinoma|trabecular carcinoma|trabecula adenocarcinoma|Merkel cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002822	A malignant epithelial neoplasm characterized by the presence of a trabecular glandular architectural pattern.	UMLS:C0302182|DOID:3965|NCIT:C4068
MONDO:0002823	obsolete thyroid gland medullary carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002823		
GO:0002712	regulation of B cell mediated immunity	biolink:OntologyClass	mondo			regulation of B-cell mediated immunity|regulation of B lymphocyte mediated immunity|regulation of B-lymphocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002712	Any process that modulates the frequency, rate, or extent of B cell mediated immunity.	
HP:0011842	Abnormality of skeletal morphology	biolink:PhenotypicFeature	mondo	UMLS:C4023165		Abnormally shaped skeletal	http://purl.obolibrary.org/obo/HP_0011842	An abnormality of the form, structure, or size of the skeletal system.	
NCBITaxon:63671	Turbinidae	organism taxon	mondo	GC_ID:1		turban shells	http://purl.obolibrary.org/obo/NCBITaxon_63671		
NCBITaxon:63672	Turbo <genus>	organism taxon	mondo	GC_ID:1		Turbo	http://purl.obolibrary.org/obo/NCBITaxon_63672		
NCBITaxon:63673	Turbo cornutus	organism taxon	mondo	GC_ID:1		Turbo (Taeniaturbo) cornutus|Turbo (Batillus) cornutus|Batillus cornutus	http://purl.obolibrary.org/obo/NCBITaxon_63673		
HGNC:6323	KIF5A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6323		
HGNC:6325	KIF5C	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6325		
GO:1903284	positive regulation of glutathione peroxidase activity	biolink:OntologyClass	mondo			up regulation of non-selenium glutathione peroxidase activity|up-regulation of glutathione peroxidase activity|positive regulation of selenium-glutathione peroxidase activity|enhancement of GPX activity|up regulation of selenium-glutathione peroxidase activity|up-regulation of reduced glutathione peroxidase activity|up-regulation of GSH peroxidase activity|upregulation of glutathione:hydrogen-peroxide oxidoreductase activity|up regulation of glutathione peroxidase activity|up-regulation of non-selenium glutathione peroxidase activity|up-regulation of selenium-glutathione peroxidase activity|up regulation of GSH peroxidase activity|up regulation of reduced glutathione peroxidase activity|activation of glutathione peroxidase activity|activation of selenium-glutathione peroxidase activity|activation of GSH peroxidase activity|positive regulation of GSH peroxidase activity|activation of reduced glutathione peroxidase activity|positive regulation of reduced glutathione peroxidase activity|upregulation of glutathione peroxidase activity|activation of non-selenium glutathione peroxidase activity|upregulation of non-selenium glutathione peroxidase activity|up-regulation of glutathione:hydrogen-peroxide oxidoreductase activity|upregulation of reduced glutathione peroxidase activity|upregulation of GSH peroxidase activity|upregulation of selenium-glutathione peroxidase activity|up regulation of glutathione:hydrogen-peroxide oxidoreductase activity|positive regulation of non-selenium glutathione peroxidase activity|positive regulation of glutathione:hydrogen-peroxide oxidoreductase activity|activation of glutathione:hydrogen-peroxide oxidoreductase activity	http://purl.obolibrary.org/obo/GO_1903284	Any process that activates or increases the frequency, rate or extent of glutathione peroxidase activity.	
GO:1903283	negative regulation of glutathione peroxidase activity	biolink:OntologyClass	mondo			downregulation of glutathione peroxidase activity|inhibition of reduced glutathione peroxidase activity|inhibition of GSH peroxidase activity|downregulation of non-selenium glutathione peroxidase activity|downregulation of GSH peroxidase activity|downregulation of reduced glutathione peroxidase activity|negative regulation of glutathione:hydrogen-peroxide oxidoreductase activity|down-regulation of glutathione:hydrogen-peroxide oxidoreductase activity|downregulation of selenium-glutathione peroxidase activity|down regulation of non-selenium glutathione peroxidase activity|down regulation of glutathione:hydrogen-peroxide oxidoreductase activity|down-regulation of glutathione peroxidase activity|inhibition of glutathione:hydrogen-peroxide oxidoreductase activity|down-regulation of non-selenium glutathione peroxidase activity|negative regulation of non-selenium glutathione peroxidase activity|down regulation of selenium-glutathione peroxidase activity|inhibition of selenium-glutathione peroxidase activity|downregulation of glutathione:hydrogen-peroxide oxidoreductase activity|down-regulation of GSH peroxidase activity|negative regulation of reduced glutathione peroxidase activity|negative regulation of GSH peroxidase activity|down-regulation of reduced glutathione peroxidase activity|negative regulation of selenium-glutathione peroxidase activity|down-regulation of selenium-glutathione peroxidase activity|down regulation of glutathione peroxidase activity|inhibition of non-selenium glutathione peroxidase activity|down regulation of reduced glutathione peroxidase activity|down regulation of GSH peroxidase activity|inhibition of glutathione peroxidase activity	http://purl.obolibrary.org/obo/GO_1903283	Any process that stops, prevents or reduces the frequency, rate or extent of glutathione peroxidase activity.	
GO:1903282	regulation of glutathione peroxidase activity	biolink:OntologyClass	mondo			regulation of non-selenium glutathione peroxidase activity|regulation of selenium-glutathione peroxidase activity|regulation of glutathione:hydrogen-peroxide oxidoreductase activity|regulation of reduced glutathione peroxidase activity|regulation of GSH peroxidase activity	http://purl.obolibrary.org/obo/GO_1903282	Any process that modulates the frequency, rate or extent of glutathione peroxidase activity.	
HP:0008207	Primary adrenal insufficiency	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:373662000|SNOMEDCT_US:363732003|SNOMEDCT_US:386584007|MSH:D000224|UMLS:C0001403|UMLS:C0405580		Primary adrenocortical failure|Addison disease|Adrenocortical insufficiency|Addison's disease	http://purl.obolibrary.org/obo/HP_0008207	Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves.	
GO:0002717	positive regulation of natural killer cell mediated immunity	biolink:OntologyClass	mondo			up regulation of natural killer cell mediated immunity|positive regulation of natural killer cell activity|activation of natural killer cell mediated immunity|stimulation of natural killer cell mediated immunity|upregulation of natural killer cell mediated immunity|positive regulation of NK cell activity|up-regulation of natural killer cell mediated immunity|positive regulation of NK cell mediated immunity	http://purl.obolibrary.org/obo/GO_0002717	Any process that activates or increases the frequency, rate, or extent of natural killer cell mediated immunity.	
MONDO:0002817	adrenal gland cancer	biolink:Disease	mondo	GARD:0005751|NCIT:C9338|ICD10:C74|SCTID:127021009|ICD10:C74.9|DOID:3953|ICD9:239.7|ICD9:194.0|MESH:D000310	gard_rare	malignant tumor of the adrenal gland|malignant tumor of adrenal gland|adrenal cancer|cancer of adrenal gland|adrenal gland cancer|malignant neoplasm of the adrenal gland|malignant adrenal gland neoplasm|malignant adrenal neoplasm|malignant neoplasm of adrenal gland|tumor of the adrenal gland|malignant adrenal gland tumor|neoplasm of adrenal gland|adrenal neoplasm|malignant adrenal tumor	http://purl.obolibrary.org/obo/MONDO_0002817	A malignant neoplasm involving the adrenal gland	SNOMEDCT:127021009|MESH:D000310|NCIT:C9338|DOID:3953
HP:0011843	Abnormality of musculoskeletal physiology	biolink:PhenotypicFeature	mondo	UMLS:C4023164			http://purl.obolibrary.org/obo/HP_0011843	An abnormality of the function of the skeletal system.	
GO:0002718	regulation of cytokine production involved in immune response	biolink:OntologyClass	mondo			regulation of cytokine biosynthetic process involved in immune response|regulation of cytokine secretion involved in immune response|regulation of cytokine production during immune response	http://purl.obolibrary.org/obo/GO_0002718	Any process that modulates the frequency, rate, or extent of cytokine production that contributes to an immune response.	
MONDO:0002818	obsolete adrenal cortical adenocarcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002818		
HP:0011844	Abnormal appendicular skeleton morphology	biolink:PhenotypicFeature	mondo	UMLS:C4023163			http://purl.obolibrary.org/obo/HP_0011844	An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles.	
NCBITaxon:194441	Primate T-lymphotropic virus 2	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_194441		
NCBITaxon:194440	Primate T-lymphotropic virus 1	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_194440		
GO:0002719	negative regulation of cytokine production involved in immune response	biolink:OntologyClass	mondo			negative regulation of cytokine production during immune response|inhibition of cytokine production during immune response|negative regulation of cytokine secretion involved in immune response|downregulation of cytokine production during immune response|down-regulation of cytokine production during immune response|negative regulation of cytokine biosynthetic process involved in immune response|down regulation of cytokine production during immune response	http://purl.obolibrary.org/obo/GO_0002719	Any process that stops, prevents, or reduces the frequency, rate, or extent of cytokine production contributing to an immune response.	
MONDO:0002819	obsolete Loeffler endocarditis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002819		
HGNC:8980	PIK3R2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8980		
MONDO:0002813	lipomatous cancer	biolink:Disease	mondo	ICD9:171.9|NCIT:C4501|UMLS:C0346117|SCTID:254828009|DOID:3939		malignant neoplasm of adipose tissue|adipose tissue cancer|malignant adipose tissue tumor|malignant tumor of adipose tissue|malignant neoplasm of the adipose tissue|malignant lipomatous neoplasm|malignant adipose tissue neoplasm|malignant lipomatous tumor|cancer of adipose tissue|malignant tumor of the adipose tissue	http://purl.obolibrary.org/obo/MONDO_0002813	A malignant mesenchymal neoplasm arising from adipocytes.	UMLS:C0346117|NCIT:C4501|SNOMEDCT:254828009|DOID:3939
GO:0002713	negative regulation of B cell mediated immunity	biolink:OntologyClass	mondo			negative regulation of B-lymphocyte mediated immunity|downregulation of B cell mediated immunity|down regulation of B cell mediated immunity|inhibition of B cell mediated immunity|down-regulation of B cell mediated immunity|negative regulation of B-cell mediated immunity|negative regulation of B lymphocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002713	Any process that stops, prevents, or reduces the frequency, rate, or extent of B cell mediated immunity.	
GO:0002714	positive regulation of B cell mediated immunity	biolink:OntologyClass	mondo			positive regulation of B-cell mediated immunity|stimulation of B cell mediated immunity|positive regulation of B lymphocyte mediated immunity|up-regulation of B cell mediated immunity|activation of B cell mediated immunity|positive regulation of B-lymphocyte mediated immunity|upregulation of B cell mediated immunity|up regulation of B cell mediated immunity	http://purl.obolibrary.org/obo/GO_0002714	Any process that activates or increases the frequency, rate, or extent of B cell mediated immunity.	
MONDO:0002814	adrenal carcinoma	biolink:Disease	mondo	DOID:3950		carcinoma of adrenal gland|carcinoma of the adrenal gland|adrenal gland carcinoma	http://purl.obolibrary.org/obo/MONDO_0002814	A carcinoma involving a adrenal gland.	DOID:3950
MONDO:0002815	acute myocarditis	biolink:Disease	mondo	ICD10:I40|UMLS:C0155686|SCTID:46701001|ICD9:422|DOID:3951|ICD9:422.99|COHD:312653|NCIT:C35206|ICD9:422.90|ICD10:I40.9		myocarditis, acute	http://purl.obolibrary.org/obo/MONDO_0002815	The sudden onset of inflammation of heart muscle with myocellular necrosis; this is generally secondary to an infectious cause, and patients often have a recent history of a flu-like illness.	NCIT:C35206|SNOMEDCT:46701001|DOID:3951|UMLS:C0155686
HP:0011849	Abnormal bone ossification	biolink:PhenotypicFeature	mondo	UMLS:C4280317|MP:0008271|UMLS:C4023161		Abnormal bone maturation	http://purl.obolibrary.org/obo/HP_0011849	Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.	
GO:0002715	regulation of natural killer cell mediated immunity	biolink:OntologyClass	mondo			regulation of NK cell mediated immunity|regulation of natural killer cell activity	http://purl.obolibrary.org/obo/GO_0002715	Any process that modulates the frequency, rate, or extent of natural killer cell mediated immunity.	
GO:0002716	negative regulation of natural killer cell mediated immunity	biolink:OntologyClass	mondo			negative regulation of NK cell mediated immunity|negative regulation of NK cell activity|down-regulation of natural killer cell mediated immunity|down regulation of natural killer cell mediated immunity|negative regulation of natural killer cell activity|inhibition of natural killer cell mediated immunity|downregulation of natural killer cell mediated immunity	http://purl.obolibrary.org/obo/GO_0002716	Any process that stops, prevents, or reduces the frequency, rate, or extent of natural killer cell mediated immunity.	
MONDO:0002816	adrenal cortex disease	biolink:Disease	mondo	SCTID:129636003|DOID:3952|UMLS:C0001614|MESH:D000303		adrenal cortex disease or disorder|disorder of adrenal cortex|disease of adrenal cortex|disease or disorder of adrenal cortex|disorder of adrenal cortex|adrenal cortex disease	http://purl.obolibrary.org/obo/MONDO_0002816	A disease involving the adrenal cortex.	UMLS:C0001614|SNOMEDCT:129636003|MESH:D000303|DOID:3952
HGNC:8983	PI4KA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8983		
GO:0097014	ciliary plasm	biolink:OntologyClass	mondo			cilium plasm|microtubule-based flagellar cytoplasm|cilial cytoplasm|microtubule-based flagellar matrix|cilium cytoplasm|microtubule-based flagellum cytoplasm|microtubule-based flagellum matrix|ciliary cytoplasm	http://purl.obolibrary.org/obo/GO_0097014	All of the contents of a cilium, excluding the plasma membrane surrounding the cilium.	
HP:0011830	Abnormal oral mucosa morphology	biolink:PhenotypicFeature	mondo	UMLS:C4023170	hposlim_core	Abnormality of oral mucous membrane|Abnormality of lining of mouth|Abnormality of mucosa of mouth|Abnormality of oral mucosa	http://purl.obolibrary.org/obo/HP_0011830	Abnormality of the oral mucosa.	
HGNC:25186	TMEM240	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25186		
UBERON:2001950	inter-premaxillary joint	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_2001950	Joint that articulates the left and right premaxillary bones. Inter-premaxillary joint is unpaired.	
HGNC:8996	PIP5K1C	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8996		
UBERON:0011645	iliofemoralis muscle	biolink:AnatomicalEntity	mondo			iliofemoralis	http://purl.obolibrary.org/obo/UBERON_0011645	Limb extensor that runs from ilium to femur.	
HGNC:6338	KIR3DL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6338		
UBERON:0011648	jaw muscle	biolink:AnatomicalEntity	mondo			mandibular muscles|mandibular muscle	http://purl.obolibrary.org/obo/UBERON_0011648		
UBERON:0008000	sesamoid bone of pes	biolink:AnatomicalEntity	mondo			sesamoid bone of foot	http://purl.obolibrary.org/obo/UBERON_0008000	A sesamoid bone that is part of a pes.	
UBERON:0008001	irregular bone	biolink:AnatomicalEntity	mondo			os irregulare|os irregulare	http://purl.obolibrary.org/obo/UBERON_0008001	The irregular bones are bones which, from their peculiar form, cannot be grouped as long bone, short bone, flat bone or sesamoid bone. Irregular bones serve various purposes in the body, such as protection of nervous tissue, affording multiple anchor points for skeletal muscle attachment (as with the sacrum), and maintaining pharynx and trachea support, and tongue attachment (such as the hyoid bone). They consist of cancellous tissue enclosed within a thin layer of compact bone. The irregular bones are: the vertebrC&, sacrum, coccyx, temporal, sphenoid, ethmoid, zygomatic, maxilla, mandible, palatine, inferior nasal concha, and hyoid.	
MONDO:0002800	thrombophlebitis	biolink:Disease	mondo	ICD9:451.0|ICD9:451.2|NCIT:C3410|ICD10:I80.0|MESH:D013924|DOID:3875|SCTID:40283005|COHD:320741|UMLS:C0040046		phlebitis and thrombophlebitis of superficial vessels of lower extremities|thrombophlebitis of a superficial leg vein|superficial thrombophlebitis of leg|thrombophlebitis of superficial veins of lower extremity	http://purl.obolibrary.org/obo/MONDO_0002800	Inflammation of the veins associated with the presence of a thrombus.	NCIT:C3410|SNOMEDCT:40283005|UMLS:C0040046|MESH:D013924|DOID:3875
MONDO:0002801	colonic pseudo-obstruction	biolink:Disease	mondo	MESH:D003112|SCTID:35065006|UMLS:C0009377|DOID:3876|EFO:1000871|ICD9:564.89|GARD:0007248	gard_rare	acute colonic ileus|primary chronic pseudo-obstruction of colon|ACPO|Ogilvie's syndrome|acute colonic pseudo-obstruction	http://purl.obolibrary.org/obo/MONDO_0002801	Functional obstruction of the colon leading to megacolon in the absence of obvious colonic diseases or mechanical obstruction. When this condition is acquired, acute, and coexisting with another medical condition (trauma, surgery, serious injuries or illness, or medication), it is called Ogilvie's syndrome.	SNOMEDCT:35065006|MESH:D003112|UMLS:C0009377|DOID:3876
HGNC:25198	SLC25A46	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25198		
UBERON:0011642	oral epithelium from ectoderm	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011642	An epithelium that develops_from a ectoderm and is part of a oral epithelium.	
HGNC:6345	KLF1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6345		
HP:0011821	Abnormality of facial skeleton	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:433096001|UMLS:C2315229		Anomaly of facial bones|Deformity of facial skeleton|Malformation of facial skeleton|Anomaly of facial skeleton|Malformation of facial bones|Deformity of the facial bones|Abnormality of facial skeleton|Abnormality of facial bones	http://purl.obolibrary.org/obo/HP_0011821	An abnormality of one or more of the set of bones that make up the facial skeleton.	
HGNC:6341	KISS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6341		
GO:0097028	dendritic cell differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0097028	The process in which a precursor cell type acquires the specialized features of a dendritic cell. A dendritic cell is a leukocyte of dendritic lineage specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation.	
HGNC:6342	KIT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6342		
HGNC:6343	KITLG	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6343		
GO:0000041	transition metal ion transport	biolink:OntologyClass	mondo			transition metal transport	http://purl.obolibrary.org/obo/GO_0000041	The directed movement of transition metal ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver.	
HGNC:25280	ODAD4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25280		
HGNC:37276	CRPPA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/37276		
SO:0000831	gene_member_region	biolink:SequenceFeature	mondo			gene member region	http://purl.obolibrary.org/obo/SO_0000831	A region of a gene.	
CHEBI:145795	digoxin(1-)	biolink:ChemicalSubstance	mondo			digoxin anion|12beta,14-dihydroxy-17beta-(5-oxo-2,5-dihydrofuran-2-id-3-yl)-5beta,14beta-androstan-3beta-yl 2,6-dideoxy-beta-D-ribo-hexopyranosyl-(1->4)-2,6-dideoxy-beta-D-ribo-hexopyranosyl-(1->4)-2,6-dideoxy-beta-D-ribo-hexopyranoside|digoxin	http://purl.obolibrary.org/obo/CHEBI_145795	An organic anion that is the conjugate base of digoxin resulting from the deprotonation of furanone moiety; major species at pH 7.3.	
GO:0051641	cellular localization	biolink:OntologyClass	mondo			intracellular localization|cellular localisation|localization within cell|establishment and maintenance of cellular localization|establishment and maintenance of localization in cell or cell membrane|single-organism cellular localization|single organism cellular localization	http://purl.obolibrary.org/obo/GO_0051641	A cellular localization process whereby a substance or cellular entity, such as a protein complex or organelle, is transported to, and/or maintained in, a specific location within a cell including the localization of substances or cellular entities to the cell membrane.	
GO:0051648	vesicle localization	biolink:OntologyClass	mondo			cytoplasmic vesicle localization|vesicle localisation|establishment and maintenance of vesicle localization	http://purl.obolibrary.org/obo/GO_0051648	Any process in which a vesicle or vesicles are transported to, and/or maintained in, a specific location.	
GO:0051649	establishment of localization in cell	biolink:OntologyClass	mondo			establishment of cellular localization|establishment of intracellular localization|positioning within cell|establishment of localization within cell|establishment of localisation in cell	http://purl.obolibrary.org/obo/GO_0051649	Any process, occuring in a cell, that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation.	
GO:0000050	urea cycle	biolink:OntologyClass	mondo			ornithine cycle|urea biosynthesis|urea biosynthetic process	http://purl.obolibrary.org/obo/GO_0000050	The sequence of reactions by which arginine is synthesized from ornithine, then cleaved to yield urea and regenerate ornithine. The overall reaction equation is NH3 + CO2 + aspartate + 3 ATP + 2 H2O = urea + fumarate + 2 ADP + 2 phosphate + AMP + diphosphate.	
GO:0051640	organelle localization	biolink:OntologyClass	mondo			establishment and maintenance of organelle localization|organelle localisation	http://purl.obolibrary.org/obo/GO_0051640	Any process in which an organelle is transported to, and/or maintained in, a specific location.	
NCBITaxon:216275	Vetigastropoda	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_216275		
GO:0002687	positive regulation of leukocyte migration	biolink:OntologyClass	mondo			positive regulation of immune cell migration|positive regulation of leucocyte migration|up-regulation of leukocyte migration|up regulation of leukocyte migration|activation of leukocyte migration|stimulation of leukocyte migration|upregulation of leukocyte migration	http://purl.obolibrary.org/obo/GO_0002687	Any process that activates or increases the frequency, rate, or extent of leukocyte migration.	
GO:0002688	regulation of leukocyte chemotaxis	biolink:OntologyClass	mondo			regulation of immune cell chemotaxis|regulation of leucocyte chemotaxis	http://purl.obolibrary.org/obo/GO_0002688	Any process that modulates the frequency, rate, or extent of leukocyte chemotaxis.	
ENVO:01001788	marine ecosystem	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001788		
GO:0002689	negative regulation of leukocyte chemotaxis	biolink:OntologyClass	mondo			negative regulation of immune cell chemotaxis|negative regulation of leucocyte chemotaxis|downregulation of leukocyte chemotaxis|down regulation of leukocyte chemotaxis|inhibition of leukocyte chemotaxis|down-regulation of leukocyte chemotaxis	http://purl.obolibrary.org/obo/GO_0002689	Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte chemotaxis.	
HGNC:13281	ESPN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13281		
ENVO:01001785	land	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001785	A surface layer of an astronomical body which is primarily composed of solid material and is not covered by oceans or other bodies of water.	
GO:0002683	negative regulation of immune system process	biolink:OntologyClass	mondo			down-regulation of immune system process|down regulation of immune system process|downregulation of immune system process|inhibition of immune system process	http://purl.obolibrary.org/obo/GO_0002683	Any process that stops, prevents, or reduces the frequency, rate, or extent of an immune system process.	
GO:0002684	positive regulation of immune system process	biolink:OntologyClass	mondo			activation of immune system process|stimulation of immune system process|upregulation of immune system process|up-regulation of immune system process|up regulation of immune system process	http://purl.obolibrary.org/obo/GO_0002684	Any process that activates or increases the frequency, rate, or extent of an immune system process.	
ENVO:01001784	compound astronomical body part	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001784	A part of an astronomical body which is primarily composed of a continuous medium bearing liquid, gaseous, and solid material in varying quantities.	
GO:0051656	establishment of organelle localization	biolink:OntologyClass	mondo			establishment of organelle localisation	http://purl.obolibrary.org/obo/GO_0051656	The directed movement of an organelle to a specific location.	
GO:0002685	regulation of leukocyte migration	biolink:OntologyClass	mondo			regulation of immune cell migration|regulation of leucocyte migration	http://purl.obolibrary.org/obo/GO_0002685	Any process that modulates the frequency, rate, or extent of leukocyte migration.	
ENVO:01001787	aquatic ecosystem	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001787		
GO:0002686	negative regulation of leukocyte migration	biolink:OntologyClass	mondo			inhibition of leukocyte migration|downregulation of leukocyte migration|negative regulation of immune cell migration|negative regulation of leucocyte migration|down-regulation of leukocyte migration|down regulation of leukocyte migration	http://purl.obolibrary.org/obo/GO_0002686	Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte migration.	
GO:0002682	regulation of immune system process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002682	Any process that modulates the frequency, rate, or extent of an immune system process.	
GO:1905821	positive regulation of chromosome condensation	biolink:OntologyClass	mondo			up regulation of eukaryotic chromosome condensation|upregulation of chromosome condensation|up-regulation of eukaryotic chromosome condensation|up-regulation of nuclear chromosome condensation|activation of eukaryotic chromosome condensation|up regulation of nuclear chromosome condensation|activation of nuclear chromosome condensation|positive regulation of nuclear chromosome condensation|up-regulation of chromosome condensation|upregulation of eukaryotic chromosome condensation|up regulation of chromosome condensation|upregulation of nuclear chromosome condensation|activation of chromosome condensation|positive regulation of eukaryotic chromosome condensation	http://purl.obolibrary.org/obo/GO_1905821	Any process that activates or increases the frequency, rate or extent of chromosome condensation.	
ENVO:01001781	part of a landmass	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001781	A solid astronomical body part which is part of the landmass of that body.	
ENVO:01001780	desert ecosystem	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001780	An ecosystem in which the composition, structure, and function of resident ecological assemblages are primarily determined by a desert.	
ENVO:01001782	landmass	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001782	A large continuous area of land, either surrounded by sea or contiguous with another landmass.	
GO:0051650	establishment of vesicle localization	biolink:OntologyClass	mondo			establishment of vesicle localisation	http://purl.obolibrary.org/obo/GO_0051650	The directed movement of a vesicle to a specific location.	
NCBITaxon:216285	Trochoidea <superfamily>	organism taxon	mondo	GC_ID:1		Trochoidea|Turbinoidea|Phasianelloidea	http://purl.obolibrary.org/obo/NCBITaxon_216285		
GO:0002698	negative regulation of immune effector process	biolink:OntologyClass	mondo			down-regulation of immune effector process|down regulation of immune effector process|inhibition of immune effector process|downregulation of immune effector process	http://purl.obolibrary.org/obo/GO_0002698	Any process that stops, prevents, or reduces the frequency, rate, or extent of an immune effector process.	
MONDO:0024299	vitamin D-dependent rickets	biolink:Disease	mondo	SCTID:68295002|UMLS:C0221468		VDDR	http://purl.obolibrary.org/obo/MONDO_0024299		SNOMEDCT:68295002|UMLS:C0221468
GO:0002699	positive regulation of immune effector process	biolink:OntologyClass	mondo			upregulation of immune effector process|up-regulation of immune effector process|up regulation of immune effector process|activation of immune effector process|stimulation of immune effector process	http://purl.obolibrary.org/obo/GO_0002699	Any process that activates or increases the frequency, rate, or extent of an immune effector process.	
GO:0002694	regulation of leukocyte activation	biolink:OntologyClass	mondo			regulation of leucocyte activation|regulation of immune cell activation	http://purl.obolibrary.org/obo/GO_0002694	Any process that modulates the frequency, rate, or extent of leukocyte activation.	
GO:0002695	negative regulation of leukocyte activation	biolink:OntologyClass	mondo			down regulation of leukocyte activation|inhibition of leukocyte activation|down-regulation of leukocyte activation|negative regulation of leucocyte activation|negative regulation of immune cell activation|downregulation of leukocyte activation	http://purl.obolibrary.org/obo/GO_0002695	Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte activation.	
GO:0002696	positive regulation of leukocyte activation	biolink:OntologyClass	mondo			positive regulation of immune cell activation|positive regulation of leucocyte activation|upregulation of leukocyte activation|up regulation of leukocyte activation|stimulation of leukocyte activation|up-regulation of leukocyte activation|activation of leukocyte activation	http://purl.obolibrary.org/obo/GO_0002696	Any process that activates or increases the frequency, rate, or extent of leukocyte activation.	
GO:0051668	localization within membrane	biolink:OntologyClass	mondo			positioning within membrane|localization to membrane|establishment and maintenance of localization in membrane|establishment and maintenance of position in membrane|localisation within membrane	http://purl.obolibrary.org/obo/GO_0051668	Any process in which a substance or cellular entity, such as a protein complex or organelle, is transported to, and/or maintained in, a specific location within a membrane.	
GO:0002697	regulation of immune effector process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002697	Any process that modulates the frequency, rate, or extent of an immune effector process.	
GO:0002690	positive regulation of leukocyte chemotaxis	biolink:OntologyClass	mondo			positive regulation of leucocyte chemotaxis|positive regulation of immune cell chemotaxis|upregulation of leukocyte chemotaxis|up regulation of leukocyte chemotaxis|stimulation of leukocyte chemotaxis|up-regulation of leukocyte chemotaxis|activation of leukocyte chemotaxis	http://purl.obolibrary.org/obo/GO_0002690	Any process that activates or increases the frequency, rate, or extent of leukocyte chemotaxis.	
MONDO:0024292	gastrointestinal polyp	biolink:Disease	mondo	NCIT:C35516|UMLS:C0744333		gastrointestinal tract polyp|GI polyp|gastrointestinal polyp	http://purl.obolibrary.org/obo/MONDO_0024292	A polypoid tumor that arises from any part of the gastrointestinal tract and protrudes into the lumen. Representative examples include adenomatous polyps, hyperplastic polyps, and hamartomatous polyps.	UMLS:C0744333|NCIT:C35516
MONDO:0024291	vascular malformation	biolink:Disease	mondo	MESH:D054079		malformations, vascular|malformation, vascular|vascular malformation	http://purl.obolibrary.org/obo/MONDO_0024291	A non-neoplastic disorder that is the result of defects of vascular morphogenesis.	MESH:D054079
MONDO:0024294	skin disease caused by infection	biolink:Disease	mondo	MESH:D012874		diseases, infectious skin|skin disease, infectious|disease, infectious skin|infectious skin diseases|infectious skin disease	http://purl.obolibrary.org/obo/MONDO_0024294	Skin diseases caused by bacteria, fungi, parasites, or viruses.	MESH:D012874
GO:0048018	receptor ligand activity	biolink:OntologyClass	mondo			signaling molecule|vitamin D receptor activator activity|signaling receptor ligand activity|receptor agonist activity	http://purl.obolibrary.org/obo/GO_0048018	The activity of a gene product that interacts with a receptor to effect a change in the activity of the receptor. Ligands may be produced by the same, or different, cell that expresses the receptor. Ligands may diffuse extracellularly from their point of origin to the receiving cell, or remain attached to an adjacent cell surface (e.g. Notch ligands).	
MONDO:0024293	polyposis, gastric, Dos Santos and de Magalhaes 1980	biolink:Disease	mondo	UMLS:C0236048|OMIM:175020	n_of_one	polyposis, gastric	http://purl.obolibrary.org/obo/MONDO_0024293		UMLS:C0236048|http://identifiers.org/omim/175020
MONDO:0024296	vascular neoplasm	biolink:Disease	mondo	NCIT:C7388		vascular neoplasms|vascular tumor, NOS|vascular system neoplasm|tumors, vascular|tumor of vascular tissue|tumor of vascular system|vascular system neoplasm (disease)|vascular tissue neoplasm|vascular neoplasm|neoplasms, vascular|vascular tumor|neoplasm of vascular tissue|vascular tumors|vascular tissue tumor|neoplasm of vascular system|vascular system tumor	http://purl.obolibrary.org/obo/MONDO_0024296	A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells.	NCIT:C7388
MONDO:0024295	skin disease caused by bacterial infection	biolink:Disease	mondo	MESH:D017192		skin disease, bacterial|disease, bacterial skin|bacterial skin disease|diseases, bacterial skin|bacterial skin diseases|Bacteria skin disease caused by infection|Bacteria caused skin disease caused by infection	http://purl.obolibrary.org/obo/MONDO_0024295	Skin diseases caused by bacteria.	MESH:D017192
MONDO:0024298	vitamin deficiency disorder	biolink:Disease	mondo	ICD9:269.1|UMLS:C1510471|SCTID:85670002|EFO:0005878|NCIT:C35772|UMLS:C0376286|MESH:D001361|ICD9:269.2		Avitaminoses|avitaminosis|vitamin deficiency disorder|deficiencies, vitamin|vitamin deficiency|vitamin deficiencies|deficiency, vitamin	http://purl.obolibrary.org/obo/MONDO_0024298	A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency.	UMLS:C1510471|UMLS:C0376286|MESH:D001361|NCIT:C35772|SNOMEDCT:85670002
MONDO:0024297	nutritional or metabolic disease	biolink:Disease	mondo	ICD10:E00.E90|MESH:D009750|UMLS:C0028715			http://purl.obolibrary.org/obo/MONDO_0024297	A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances.	UMLS:C0028715|MESH:D009750
MONDO:0024290	enuresis	biolink:Disease	mondo	NCIT:C34588|MESH:D004775|UMLS:C0014394		enuresis	http://purl.obolibrary.org/obo/MONDO_0024290	An elimination disorder characterized by urinary incontinence, whether involuntary or intentional, which is not due to a medical condition and which occurs at or beyond an age at which continence is expected (usually 5 years).	MESH:D004775|UMLS:C0014394|NCIT:C34588
GO:0000002	mitochondrial genome maintenance	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0000002	The maintenance of the structure and integrity of the mitochondrial genome; includes replication and segregation of the mitochondrial chromosome.	
GO:0051674	localization of cell	biolink:OntologyClass	mondo			establishment and maintenance of localization of cell|establishment and maintenance of cell localization|localisation of cell|cell localization	http://purl.obolibrary.org/obo/GO_0051674	Any process in which a cell is transported to, and/or maintained in, a specific location.	
GO:0000003	reproduction	biolink:OntologyClass	mondo			reproductive physiological process	http://purl.obolibrary.org/obo/GO_0000003	The production of new individuals that contain some portion of genetic material inherited from one or more parent organisms.	
HGNC:25240	ANO6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25240		
GO:0002660	positive regulation of peripheral tolerance induction	biolink:OntologyClass	mondo			stimulation of peripheral tolerance induction|up regulation of peripheral tolerance induction|activation of peripheral tolerance induction|up-regulation of peripheral tolerance induction|upregulation of peripheral tolerance induction	http://purl.obolibrary.org/obo/GO_0002660	Any process that activates or increases the frequency, rate, or extent of peripheral tolerance induction.	
HGNC:25244	CCDC39	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25244		
HGNC:37234	TMEM231	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/37234		
GO:0002673	regulation of acute inflammatory response	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002673	Any process that modulates the frequency, rate, or extent of an acute inflammatory response.	
GO:0002674	negative regulation of acute inflammatory response	biolink:OntologyClass	mondo			inhibition of acute inflammatory response|downregulation of acute inflammatory response|down-regulation of acute inflammatory response|down regulation of acute inflammatory response	http://purl.obolibrary.org/obo/GO_0002674	Any process that stops, prevents, or reduces the frequency, rate, or extent of an acute inflammatory response.	
GO:0002675	positive regulation of acute inflammatory response	biolink:OntologyClass	mondo			up-regulation of acute inflammatory response|up regulation of acute inflammatory response|activation of acute inflammatory response|stimulation of acute inflammatory response|upregulation of acute inflammatory response	http://purl.obolibrary.org/obo/GO_0002675	Any process that activates or increases the frequency, rate, or extent of an acute inflammatory response.	
HGNC:37227	KBTBD13	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/37227		
CHEBI:51374	GABA agent	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_51374	A substance, such as agonists, antagonists, degradation or uptake inhibitors, depleters, precursors, and modulators of receptor function, used for its pharmacological actions on GABAergic systems.	
GO:0000018	regulation of DNA recombination	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0000018	Any process that modulates the frequency, rate or extent of DNA recombination, a DNA metabolic process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents.	
HGNC:13273	DUOX2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13273		
GO:0002643	regulation of tolerance induction	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002643	Any process that modulates the frequency, rate, or extent of tolerance induction.	
GO:0002644	negative regulation of tolerance induction	biolink:OntologyClass	mondo			inhibition of tolerance induction|downregulation of tolerance induction|down-regulation of tolerance induction|down regulation of tolerance induction	http://purl.obolibrary.org/obo/GO_0002644	Any process that stops, prevents, or reduces the frequency, rate, or extent of tolerance induction.	
ENVO:01001747	mass fluid flow	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001747		
GO:0002645	positive regulation of tolerance induction	biolink:OntologyClass	mondo			up-regulation of tolerance induction|up regulation of tolerance induction|activation of tolerance induction|stimulation of tolerance induction|upregulation of tolerance induction	http://purl.obolibrary.org/obo/GO_0002645	Any process that activates or increases the frequency, rate, or extent of tolerance induction.	
HGNC:8907	PGM3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8907		
HGNC:25223	COQ2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25223		
HGNC:25221	MMADHC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25221		
GO:0061024	membrane organization	biolink:OntologyClass	mondo			cellular membrane organisation|cellular membrane organization|membrane organisation|membrane organization and biogenesis|single-organism membrane organization	http://purl.obolibrary.org/obo/GO_0061024	A process which results in the assembly, arrangement of constituent parts, or disassembly of a membrane. A membrane is a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins.	
HGNC:8910	PGR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8910		
HGNC:8912	PHB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8912		
HGNC:13243	LMBR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13243		
HGNC:37212	KLLN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/37212		
GO:0002654	positive regulation of tolerance induction dependent upon immune response	biolink:OntologyClass	mondo			positive regulation of immune response-dependent tolerance induction|up regulation of tolerance induction dependent upon immune response|stimulation of tolerance induction dependent upon immune response|activation of tolerance induction dependent upon immune response|up-regulation of tolerance induction dependent upon immune response|upregulation of tolerance induction dependent upon immune response	http://purl.obolibrary.org/obo/GO_0002654	Any process that activates or increases the frequency, rate, or extent of tolerance induction dependent upon immune response.	
CHEBI:51356	penicillinate anion	biolink:ChemicalSubstance	mondo			penicillin anions|penicillin|penicillin anion	http://purl.obolibrary.org/obo/CHEBI_51356	Any anion formed by loss of a proton from the carboxy group of a penicillin.	
GO:0002652	regulation of tolerance induction dependent upon immune response	biolink:OntologyClass	mondo			regulation of immune response-dependent tolerance induction	http://purl.obolibrary.org/obo/GO_0002652	Any process that modulates the frequency, rate, or extent of tolerance induction dependent upon immune response.	
GO:0002653	negative regulation of tolerance induction dependent upon immune response	biolink:OntologyClass	mondo			downregulation of tolerance induction dependent upon immune response|negative regulation of immune response-dependent tolerance induction|down regulation of tolerance induction dependent upon immune response|inhibition of tolerance induction dependent upon immune response|down-regulation of tolerance induction dependent upon immune response	http://purl.obolibrary.org/obo/GO_0002653	Any process that stops, prevents, or reduces the frequency, rate, or extent of tolerance induction dependent upon immune response.	
HGNC:25230	AHDC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25230		
HGNC:8918	PHEX	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8918		
HGNC:8923	PHGDH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8923		
HGNC:8926	PHKA2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8926		
HGNC:8925	PHKA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8925		
HGNC:13254	FTSJ1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13254		
GO:0002658	regulation of peripheral tolerance induction	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002658	Any process that modulates the frequency, rate, or extent of peripheral tolerance induction.	
GO:0002659	negative regulation of peripheral tolerance induction	biolink:OntologyClass	mondo			inhibition of peripheral tolerance induction|down-regulation of peripheral tolerance induction|downregulation of peripheral tolerance induction|down regulation of peripheral tolerance induction	http://purl.obolibrary.org/obo/GO_0002659	Any process that stops, prevents, or reduces the frequency, rate, or extent of peripheral tolerance induction.	
GO:0099601	regulation of neurotransmitter receptor activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0099601	Any process that modulates the frequency, rate or extent of neurotransmitter receptor activity. Modulation may be via an effect on ligand affinity, or effector funtion such as ion selectivity or pore opening/closing in ionotropic receptors.	
MONDO:0024245	ductal eccrine adenocarcinoma	biolink:Disease	mondo	NCIT:C43345|SCTID:403939009|DOID:5570		sweat gland carcinoma of the hand|ductal eccrine carcinoma|primary mucoepidermoid cutaneous carcinoma|ductal eccrine adenocarcinoma|malignant hidradenoma|eccrine ductal carcinoma of skin|eccrine ductal carcinoma|anaplastic syringoma|eccrine ductal carcinoma (morphologic abnormality)|malignant acrospiroma|hidradenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0024245		DOID:5570|NCIT:C43345|SNOMEDCT:403939009
MONDO:0000278	obsolete Bolivian hemorrhagic fever	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000278		
MONDO:0000277	obsolete Argentine hemorrhagic fever	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000277		
MONDO:0000276	Powassan encephalitis	biolink:Disease	mondo	SCTID:416707008|DOID:0050179|UMLS:C0032858|UMLS:C1563215|ICD9:063.8		Powassan virus infectious disease|Powassan virus caused disease or disorder|powassan encephalitis virus infection|Powassan virus disease or disorder|encephalitis, powassan	http://purl.obolibrary.org/obo/MONDO_0000276	A disease caused by infection with Powassan virus.	UMLS:C0032858|DOID:0050179|UMLS:C1563215|SNOMEDCT:416707008
MONDO:0024247	benign eccrine neoplasm	biolink:Disease	mondo	NCIT:C6797|UMLS:C1332493|SCTID:254715009		benign eccrine tumor of the skin|benign eccrine tumor|benign eccrine neoplasm of skin|benign eccrine skin tumor|benign eccrine neoplasm of the skin|benign eccrine skin neoplasm|eccrine sweat gland neoplasm, benign|benign eccrine neoplasm|benign eccrine sweat gland neoplasm|benign eccrine tumor of skin|benign skin tumor with eccrine differentiation	http://purl.obolibrary.org/obo/MONDO_0024247	A non-metastasizing eccrine appendage sweat gland neoplasm. Representative examples include hidrocystoma, syringoma, and syringofibroadenoma.	SNOMEDCT:254715009|UMLS:C1332493|NCIT:C6797
MONDO:0024246	syringofibroadenoma	biolink:Disease	mondo	NCIT:C43356|HP:0031018|ICDO:8392/0|UMLS:C1266060|SCTID:403936002|UMLS:C0473578		acrosyringeal nevus|eccrine syringofibroadenoma|eccrine syringofibroadenomatous hyperplasia|syringofibroadenoma|eccrine syringofibroadenoma of skin|acrosyringeal adenomatosis	http://purl.obolibrary.org/obo/MONDO_0024246	A rare, benign eccrine neoplasm usually arising on acral areas as a solitary papular or nodular lesion. Multiple lesions are referred as syringofibroadenomatosis. It is characterized by the presence of epithelial cuboidal cells forming anastomosing cords in a fibrovascular stroma.	UMLS:C1266060|SNOMEDCT:403936002|UMLS:C0473578|NCIT:C43356
MONDO:0000275	obsolete monogenic disease	biolink:Disease	mondo	DOID:0050177			http://purl.obolibrary.org/obo/MONDO_0000275	A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele).	DOID:0050177
MONDO:0024249	pityriasis lichenoides	biolink:Disease	mondo	NCIT:C85013|MESH:D017514|GARD:0010265|SCTID:200983001	gard_rare	chronic Pityriasis Lichenoides|Pityriasis Lichenoides, acute|Pityriasis Lichenoides|Pityriasis Lichenoides chronica|parapsoriasis en gouttes|pityriasis lichenoides|Pityriasis Lichenoides et Varioliformis Acuta|parapsoriasis guttata|Pityriasis Lichenoides, chronic|acute Pityriasis Lichenoides	http://purl.obolibrary.org/obo/MONDO_0024249	A rare cutaneous disorder of unknown etiology that can present either as an acute condition, with multiple papular lesions which become vesicular and necrotic (pityriasis lichenoides et varioliformis acuta) or chronic, with small, scaling papules (pityriasis lichenoides chronica).	NCIT:C85013|SNOMEDCT:200983001|MESH:D017514
MONDO:0024248	obsolete pityriasis	biolink:Disease	mondo	SCTID:34630004|MESH:D010915|ICD9:696.5		Pityriases	http://purl.obolibrary.org/obo/MONDO_0024248	A name originally applied to a group of skin diseases characterized by the formation of fine, branny scales, but now used only with a modifier. (Dorland, 27th ed)	SNOMEDCT:34630004|MESH:D010915
MONDO:0000279	obsolete Venezuelan hemorrhagic fever	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000279		
MONDO:0000270	lower respiratory tract disease	biolink:Disease	mondo	SCTID:128272009|ICD9:478.1|ICD9:478.19|UMLS:C1290325|DOID:0050161		lower respiratory tract disease|disease or disorder of lower respiratory tract|disease of lower respiratory tract|lower respiratory tract disease or disorder|disorder of lower respiratory tract	http://purl.obolibrary.org/obo/MONDO_0000270	A disease involving the lower respiratory tract.	SNOMEDCT:128272009|DOID:0050161|UMLS:C1290325
MONDO:0000274	obsolete tick-borne encephalitis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000274		
MONDO:0024240	eccrine carcinoma	biolink:Disease	mondo	DOID:4920|UMLS:C1302864|UMLS:C1707878|NCIT:C27255|SCTID:400173004|UMLS:C1266066|ICDO:8413/3		eccrine carcinoma|carcinoma of eccrine sweat gland|eccrine sweat gland carcinoma|eccrine adenocarcinoma (morphologic abnormality)|eccrine carcinoma of skin|eccrine sweat gland adenocarcinoma|eccrine adenocarcinoma|carcinoma, eccrine gland, malignant	http://purl.obolibrary.org/obo/MONDO_0024240	An adenocarcinoma with eccrine differentiation arising from the sweat glands. It includes the following subtypes: ductal eccrine adenocarcinoma, papillary eccrine carcinoma, and eccrine porocarcinoma.	UMLS:C1266066|UMLS:C1707878|SNOMEDCT:400173004|UMLS:C1302864|DOID:4920|NCIT:C27255
MONDO:0000273	Kunjin virus infectous disease	biolink:Disease	mondo	DOID:0050174		Kunjin encephalitis	http://purl.obolibrary.org/obo/MONDO_0000273		DOID:0050174
CHEBI:63332	EC 3.1.3.1 (alkaline phosphatase) inhibitor	biolink:ChemicalSubstance	mondo			alkaline phosphohydrolase inhibitor|glycerophosphatase inhibitors|alkaline phenyl phosphatase inhibitors|alkaline phosphatase (EC 3.1.3.1) inhibitor|alkaline phosphomonoesterase inhibitor|EC 3.1.3.1 inhibitors|orthophosphoric-monoester phosphohydrolase (alkaline optimum) inhibitors|phosphate-monoester phosphohydrolase (alkaline optimum) inhibitor|phosphomonoesterase inhibitors|alkaline phosphatase inhibitor|alkaline phosphatase inhibitors|phosphomonoesterase inhibitor|orthophosphoric-monoester phosphohydrolase (alkaline optimum) inhibitor|phosphate-monoester phosphohydrolase (alkaline optimum) inhibitors|alkaline phosphomonoesterase inhibitors|EC 3.1.3.1 inhibitor|alkaline phosphatase (EC 3.1.3.1) inhibitors|alkaline phenyl phosphatase inhibitor|EC 3.1.3.1 (alkaline phosphatase) inhibitors|glycerophosphatase inhibitor|alkaline phosphohydrolase inhibitors	http://purl.obolibrary.org/obo/CHEBI_63332	An EC 3.1.3.* (phosphoric monoester hydrolase) inhibitor that interferes with the action of alkaline phosphatase (EC 3.1.3.1).	
MONDO:0000272	obsolete autoimmune polyendocrine syndrome type 2	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000272		
MONDO:0000271	tuberculous salpingitis	biolink:Disease	mondo	ICD9:016.6|ICD10:A18.17|DOID:0050166|UMLS:C0275933|ICD9:016.60|SCTID:49558004		fallopian tube tuberculosis	http://purl.obolibrary.org/obo/MONDO_0000271	An urogenital tuberculosis involving a pathogenic inflammatory response in the fallopian tube.	DOID:0050166|SNOMEDCT:49558004|UMLS:C0275933
MONDO:0012267	holoprosencephaly 8	biolink:Disease	mondo	OMIM:609408|DOID:0110879|UMLS:C1836254|MESH:C563723		HPE8|holoprosencephaly type 8|holoprosencephaly 8; HPE8|holoprosencephaly 8	http://purl.obolibrary.org/obo/MONDO_0012267	A holoprosencephaly that has material basis in variation in the chromosome region 14q13.	http://identifiers.org/omim/609408|UMLS:C1836254|DOID:0110879|MESH:C563723
MONDO:0012268	AIDS	biolink:Disease	mondo	NCIT:C2851|SCTID:62479008|ICD10:B20|MESH:D000163|DOID:635|EFO:0000765		AIDS|acquired immunodeficiency syndrome|AIDS, acquired immunodeficiency syndrome|acquired immunodeficiency syndrome, AIDS|acquired immunodeficiency disease|acquired immune deficiency|acquired immune deficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0012268	A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin lymphoma and Kaposi sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood.	MESH:D000163|NCIT:C2851|DOID:635|SNOMEDCT:62479008
MONDO:0012265	PEE3	biolink:Disease	mondo	OMIM:609403|UMLS:C1836256		PREECLAMPSIA/eclampsia 3|PREECLAMPSIA/eclampsia 3; PEE3|PEE3	http://purl.obolibrary.org/obo/MONDO_0012265		http://identifiers.org/omim/609403|UMLS:C1836256
MONDO:0012266	preeclampsia/eclampsia 4	biolink:Disease	mondo	UMLS:C1836255|OMIM:609404|MESH:C563724		preeclampsia caused by mutation in STOX1|PREECLAMPSIA/eclampsia 4; PEE4|Preeclampsia/eclampsia type 4|preeclampsia/eclampsia 4|STOX1 preeclampsia|PEE4	http://purl.obolibrary.org/obo/MONDO_0012266	Any preeclampsia in which the cause of the disease is a mutation in the STOX1 gene.	http://identifiers.org/omim/609404|UMLS:C1836255|MESH:C563724
MONDO:0012269	chromosome 3q29 microdeletion syndrome	biolink:Disease	mondo	SCTID:716456000|MESH:C567184|Orphanet:65286|UMLS:C2674949|GARD:0011974|ICD10:Q93.5|OMIM:609425|DOID:0060419	ordo_malformation_syndrome	3qter deletion|monosomy 3qter|3q29 microdeletion syndrome|3q29 deletion|monosomy 3q29|chromosome 3q29 deletion syndrome|3q29 deletion syndrome|microdeletion 3Q29 syndrome|3q subtelomere deletion syndrome|Del(3)(q29)	http://purl.obolibrary.org/obo/MONDO_0012269	3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.	http://identifiers.org/omim/609425|MESH:C567184|SNOMEDCT:716456000|UMLS:C2674949|ORPHA:65286|DOID:0060419
HGNC:15889	FERMT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15889		
HGNC:15888	RTEL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15888		
MONDO:0012260	cataract 35	biolink:Disease	mondo	OMIM:609376|ICD10:Q12.0|MESH:C563728|UMLS:C1836272|DOID:0110261		cataract 35, congenital nuclear|cataract type 35|cataract 35; CTRCT35|autosomal recessive congenital nuclear cataract 1|cataract 35|cataract, congenital nuclear, autosomal recessive 1|CTRCT35|CATCN1	http://purl.obolibrary.org/obo/MONDO_0012260	A cataract that has material basis in variation in the region 19q13.	DOID:0110261|UMLS:C1836272|MESH:C563728|http://identifiers.org/omim/609376
HGNC:13221	BCL11A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13221		
HGNC:13222	BCL11B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13222		
MONDO:0012263	AIS4	biolink:Disease	mondo	OMIM:609400	predisposition	autoimmune disease, susceptibility to, 4; AIS4|autoimmune disease, susceptibility to, 4|vitiligo-associated multiple autoimmune disease susceptibility 5|AIS4|autoimmune disease susceptibility locus, chromosome 4-related	http://purl.obolibrary.org/obo/MONDO_0012263		http://identifiers.org/omim/609400
MONDO:0012264	PEE2	biolink:Disease	mondo	OMIM:609402|UMLS:C1836257		PREECLAMPSIA/eclampsia 2|PREECLAMPSIA/eclampsia 2; PEE2|PEE2	http://purl.obolibrary.org/obo/MONDO_0012264		UMLS:C1836257|http://identifiers.org/omim/609402
CHEBI:77974	food packaging gas	biolink:ChemicalSubstance	mondo			food packaging gases	http://purl.obolibrary.org/obo/CHEBI_77974	A food additive that is a (generally inert) gas which is used to envelop foodstuffs during packing and so protect them from unwanted chemical reactions such as food spoilage or oxidation during subsequent transport and storage. The term includes propellant gases, used to expel foods from a container.	
MONDO:0012261	AUTS6	biolink:Disease	mondo	UMLS:C1836271|OMIM:609378	predisposition	AUTS6|autism, susceptibility to, 6; AUTS6|autism, susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0012261		UMLS:C1836271|http://identifiers.org/omim/609378
MONDO:0012262	CFEOM3C	biolink:Disease	mondo	OMIM:609384|MESH:C567666|UMLS:C2750404		fibrosis of extraocular muscles, congenital, 3C; CFEOM3C|fibrosis of extraocular muscles, congenital, 3C|CFEOM3C|Feom4 locus	http://purl.obolibrary.org/obo/MONDO_0012262		MESH:C567666|UMLS:C2750404|http://identifiers.org/omim/609384
MONDO:0024234	Seckel like syndrome majoor-krakauer type	biolink:Disease	mondo	GARD:0004781	gard_rare	Bird-headed dwarfism microcephaly micrognathia	http://purl.obolibrary.org/obo/MONDO_0024234		
MONDO:0000289	obsolete selective IgM deficiency disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000289		
MONDO:0000288	polycystic echinococcosis	biolink:Disease	mondo	DOID:0050218		neotropical echinococcosis|human polycystic hydatid disease	http://purl.obolibrary.org/obo/MONDO_0000288		DOID:0050218
MONDO:0000287	obsolete Lambert-Eaton myasthenic syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000287		
MONDO:0024236	obsolete degenerative disorder	biolink:Disease	mondo	UMLS:C1285162|NCIT:C27090|SCTID:362975008|ICD9:796.4		degenerative disorder|degenerative disease	http://purl.obolibrary.org/obo/MONDO_0024236	A disorder characterized by the progressive loss of function and/or structure of the affected tissues.	
MONDO:0000286	Epstein-Barr virus hepatitis	biolink:Disease	mondo	UMLS:C0554114|DOID:0050204|SCTID:302919001			http://purl.obolibrary.org/obo/MONDO_0000286	A viral hepatitis that results in inflammation, located in liver, has material basis in Human herpesvirus 4 and has symptom headache, has symptom fatigue, has symptom fever, has symptom abdominal pain, has symptom nausea, and has symptom jaundice.	UMLS:C0554114|DOID:0050204|SNOMEDCT:302919001
MONDO:0024235	Brenner tumor	biolink:Disease	mondo	ICDO:9000/0|ONCOTREE:BTOV|NCIT:C39954		Brenner tumor	http://purl.obolibrary.org/obo/MONDO_0024235	A usually benign tumor composed of solid and cystic nests of epithelial cells resembling transitional epithelium; it is surrounded by an abundant stromal component that is dense and fibroblastic in nature.	NCIT:C39954
MONDO:0024238	cerebral degeneration	biolink:Disease	mondo	UMLS:C0154671|ICD9:331.9|SCTID:418143002		neurodegenerative disease of telencephalon|telencephalon neurodegenerative disease|cerebral degeneration	http://purl.obolibrary.org/obo/MONDO_0024238	A neurodegenerative disease that involves the telencephalon.	UMLS:C0154671|SNOMEDCT:418143002
MONDO:0024237	inherited neurodegenerative disorder	biolink:Disease	mondo	UMLS:CN200549|UMLS:C3273225|Orphanet:183500|MESH:D020271|NCIT:C97073	ordo_group_of_disorders	genetic neurodegenerative disease|hereditary neurodegenerative disorder|hereditary neurodegenerative disease	http://purl.obolibrary.org/obo/MONDO_0024237	An inherited disorder characterized by progressive degeneration and atrophy of the nervous system.	MESH:D020271|UMLS:C3273225|ORPHA:183500|UMLS:CN200549|NCIT:C97073
MONDO:0024239	congenital anomaly of cardiovascular system	biolink:Disease	mondo	SCTID:9904008|NCIT:C35729|ICD9:747.89|ICD9:747.9		disorder of cardiovascular system development|congenital cardiovascular anomaly|congenital cardiovascular disorder|congenital anomaly of cardiovascular system|disorder of cardiovascular system development|cardiovascular system development disease|congenital Abnormality of the circulatory system|congenital cardiovascular Abnormality	http://purl.obolibrary.org/obo/MONDO_0024239	A disease that has its basis in the disruption of cardiovascular system development.	SNOMEDCT:9904008|NCIT:C35729
MONDO:0000281	obsolete Chapare hemorrhagic fever	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000281		
MONDO:0000280	obsolete Brazilian hemorrhagic fever	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000280		
MONDO:0000285	obsolete lujo hemorrhagic fever	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000285		
MONDO:0000284	Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type	biolink:Disease	mondo	DOID:0050201|UMLS:C0242993		nephropathis epidemica|nephropathia epidemica	http://purl.obolibrary.org/obo/MONDO_0000284		UMLS:C0242993|DOID:0050201
MONDO:0000283	Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type	biolink:Disease	mondo	DOID:0050200		Korean hemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0000283		DOID:0050200
MONDO:0000282	Whitewater Arroyo hemorrhagic fever	biolink:Disease	mondo	DOID:0050199			http://purl.obolibrary.org/obo/MONDO_0000282	A viral infectious disease that is a hemorrhagic fever, has material basis in Whitewater Arroyo virus, which is transmitted by white-throated woodrats (Neotoma albigula). The infection has symptom fever, has symptom headache, has symptom myalgia, and has symptom hemorrhagic manifestations.	DOID:0050199
MONDO:0012256	hereditary spastic paraplegia 28	biolink:Disease	mondo	MESH:C563732|UMLS:C1836295|SCTID:763376002|DOID:0110779|Orphanet:101008|ICD10:G11.4|OMIM:609340	ordo_disease	spastic paraplegia 28, autosomal recessive; SPG28|DDHD1 autosomal recessive pure spastic paraplegia|autosomal recessive spastic paraplegia type 28|hereditary spastic paraplegia type 28|autosomal recessive pure spastic paraplegia caused by mutation in DDHD1|spastic paraplegia 28, autosomal recessive|autosomal recessive spastic paraplegia 28|SPG28	http://purl.obolibrary.org/obo/MONDO_0012256	Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations reported include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs.	http://identifiers.org/omim/609340|SNOMEDCT:763376002|DOID:0110779|UMLS:C1836295|ORPHA:101008|MESH:C563732
MONDO:0012257	Cerebrorenodigital syndrome	biolink:Disease	mondo	UMLS:C1836287|MESH:C563731|ICD10:Q87.8|Orphanet:1396|OMIM:609345	ordo_malformation_syndrome	CEREBRORENODIGITAL syndrome with limb malformations and triradiate acetabula	http://purl.obolibrary.org/obo/MONDO_0012257		http://identifiers.org/omim/609345|ORPHA:1396|UMLS:C1836287|MESH:C563731
MONDO:0012254	multiple epiphyseal dysplasia, with miniepiphyses	biolink:Disease	mondo	OMIM:609325|UMLS:C1836307|ICD10:Q77.3|Orphanet:166032|MESH:C563735	ordo_disease	epiphyseal dysplasia, multiple, with miniepiphyses	http://purl.obolibrary.org/obo/MONDO_0012254	Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported.	http://identifiers.org/omim/609325|UMLS:C1836307|MESH:C563735|ORPHA:166032
MONDO:0012255	chromosome 18 pericentric inversion	biolink:Disease	mondo	MESH:C563734|UMLS:C1836305|OMIM:609334		chromosome 18 pericentric inversion	http://purl.obolibrary.org/obo/MONDO_0012255		http://identifiers.org/omim/609334|UMLS:C1836305|MESH:C563734
MONDO:0012258	epidermolysis bullosa simplex with circinate migratory erythema	biolink:Disease	mondo	SCTID:716700003|ICD10:Q81.0|MESH:C563730|UMLS:C1836284|Orphanet:158681|OMIM:609352	ordo_disease	EBS-migr|epidermolysis bullosa simplex with migratory circinate erythema	http://purl.obolibrary.org/obo/MONDO_0012258	Epidermolysis bullosa simplex with circinate migratory erythema (EBS-migr) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema.	http://identifiers.org/omim/609352|SNOMEDCT:716700003|ORPHA:158681|UMLS:C1836284|MESH:C563730
MONDO:0012259	colloid cysts of third ventricle	biolink:Disease	mondo	OMIM:609363|MESH:C535966|GARD:0009878	gard_rare	neuroepithelial cysts of third ventricle|colloid cysts of third ventricle	http://purl.obolibrary.org/obo/MONDO_0012259	Colloid cysts of the third ventricle are non-cancerous brain lesions. The third ventricle is a cavity in the brain that is filled with cerebral spinal fluid (CSF). Colloid cysts can cause blockages resulting in a build up of CSF in the brain (hydrocephalus) and increased pressure. Some colloid cysts are asymptomatic while others cause neurological symptoms, such as headaches, swelling of the optic nerve (papilledema), and drop attacks. When symptoms are present onset tends to be in the third to sixth decade of life. While uncommon, symptoms of colloid cyst can become life threatening.	http://identifiers.org/omim/609363|MESH:C535966
HGNC:15899	NDUFAF5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15899		
HGNC:15894	PANK2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15894		
MONDO:0012252	rhabdoid tumor predisposition syndrome 1	biolink:Disease	mondo	OMIM:609322		brain tumor, posterior fossa, of infancy, familial|SMARCB1 familial rhabdoid tumor|At/RT|rhabdoid tumor predisposition syndrome 1; RTPS1|malignant rhabdoid tumor, somatic|familial rhabdoid tumor caused by mutation in SMARCB1|rhabdoid tumor predisposition syndrome type 1|rhabdoid tumor predisposition syndrome 1|teratoid tumor, atypical|RTPS1	http://purl.obolibrary.org/obo/MONDO_0012252	Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCB1 gene.	http://identifiers.org/omim/609322
MONDO:0012253	multiple epiphyseal dysplasia, with severe proximal femoral dysplasia	biolink:Disease	mondo	ICD10:Q77.3|Orphanet:166029|UMLS:C1836315|OMIM:609324|MESH:C563736	ordo_disease	epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia	http://purl.obolibrary.org/obo/MONDO_0012253	Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated.	http://identifiers.org/omim/609324|UMLS:C1836315|MESH:C563736|ORPHA:166029
CHEBI:75324	excipient	biolink:ChemicalSubstance	mondo			filler|excipient|bulking agents|bulking agent|fillers	http://purl.obolibrary.org/obo/CHEBI_75324	A generally pharmacologically inactive substance that is formulated with the active ingredient of a medication.	
MONDO:0012250	Charcot-Marie-Tooth disease type 4H	biolink:Disease	mondo	UMLS:C1836336|Orphanet:99954|MESH:C563740|DOID:0110192|GARD:0012442|OMIM:609311|SCTID:715802008|ICD10:G60.0	ordo_disease|gard_rare	FGD4 Charcot-Marie-Tooth disease type 4|autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H|Charcot-Marie-Tooth disease, autosomal recessive, type 4H|Charcot-Marie-Tooth disease type 4 caused by mutation in FGD4|CMT4H|autosomal recessive Charcot-Marie-Tooth disease type 4H|Charcot-Marie-Tooth disease, type 4H; CMT4H|Charcot-Marie-Tooth neuropathy, type 4H|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4H|Charcot-Marie-Tooth disease, type 4H|Charcot-Marie-Tooth neuropathy type 4H	http://purl.obolibrary.org/obo/MONDO_0012250	Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy	ORPHA:99954|DOID:0110192|SNOMEDCT:715802008|UMLS:C1836336|MESH:C563740|http://identifiers.org/omim/609311
MONDO:0012251	MEDNIK syndrome	biolink:Disease	mondo	Orphanet:171851|UMLS:CN229776|DOID:0060483|OMIM:609313|SCTID:722035007|MESH:C563739|UMLS:C1836330	ordo_disease	MEDNIK|mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma|intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermia|mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma; MEDNIK|mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia|intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma|intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma; MEDNIK|erythrokeratodermia variabilis, Kamouraska type|erythrokeratodermia variabilis 3|intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome	http://purl.obolibrary.org/obo/MONDO_0012251	MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).	ORPHA:171851|UMLS:C1836330|DOID:0060483|MESH:C563739|UMLS:CN229776|SNOMEDCT:722035007|http://identifiers.org/omim/609313
MONDO:0000256	systemic mycosis	biolink:Disease	mondo	UMLS:C0553576|ICD9:117.9|SCTID:399314004|DOID:0050136		systemic fungal infection	http://purl.obolibrary.org/obo/MONDO_0000256	A mycosis that involves the lungs, abdominal viscera, bones and or central nervous system.	SNOMEDCT:399314004|DOID:0050136|UMLS:C0553576
MONDO:0000255	subcutaneous mycosis	biolink:Disease	mondo	DOID:0050135		subcutaneous mycosis	http://purl.obolibrary.org/obo/MONDO_0000255	A mycosis that involves subcutaneous tissue. There are three general types of subcutaneous mycoses: chromoblastomycosis, mycetoma, and sporotrichosis.	DOID:0050135
MONDO:0000254	cutaneous mycosis	biolink:Disease	mondo	SCTID:14560005|DOID:0050134			http://purl.obolibrary.org/obo/MONDO_0000254	A mycosis that involves the integument and its appendages, including hair and nails. Infection may involve the stratum corneum or deeper layers of the epidermis.	DOID:0050134|SNOMEDCT:14560005
MONDO:0000253	piedra	biolink:Disease	mondo	UMLS:C0031898|MESH:D010854|SCTID:402135006		Piedras, black|steroid-modified tinea infection|piedra, White|White piedra|black Piedras|hair shaft fungal infectious disease|Piedras, White|black piedra|White Piedras|piedra, black|Piedras	http://purl.obolibrary.org/obo/MONDO_0000253	Either of two diseases resulting from fungal infection of the hair shafts. Black piedra occurs mainly in and on the hairs of the scalp and is caused by Piedraia hortae; white piedra occurs in and on the hairs of the scalp, beard, moustache and genital areas and is caused by Trichosporon species.	SNOMEDCT:402135006|UMLS:C0031898|MESH:D010854
MONDO:0024227	miliaria pustulosa	biolink:Disease	mondo	DOID:0070319|SCTID:26988005			http://purl.obolibrary.org/obo/MONDO_0024227	A miliaria that is characterized by pustules resulting from inflammation and bacterial infection.	DOID:0070319|SNOMEDCT:26988005
MONDO:0000259	asymptomatic dengue	biolink:Disease	mondo	DOID:0050143			http://purl.obolibrary.org/obo/MONDO_0000259		DOID:0050143
MONDO:0024229	miliaria crystallina	biolink:Disease	mondo	ICD10CM:L74.1|DOID:0070321			http://purl.obolibrary.org/obo/MONDO_0024229	A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located in the stratum corneum.	DOID:0070321
MONDO:0000258	obsolete intestinal botulism	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000258		
MONDO:0024228	miliaria profunda	biolink:Disease	mondo	SCTID:47317002|DOID:0070320			http://purl.obolibrary.org/obo/MONDO_0024228	A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash.	DOID:0070320|SNOMEDCT:47317002
MONDO:0000257	acute diarrhea	biolink:Disease	mondo	DOID:0050140|SCTID:409966000|UMLS:C0740441		acute diarrheal disease|diarrheal disease, acute|diarrhea, acute|diarrhea (disease), acute	http://purl.obolibrary.org/obo/MONDO_0000257	Acute form of diarrhea.	UMLS:C0740441|DOID:0050140|SNOMEDCT:409966000
MONDO:0000252	inflammatory diarrhea	biolink:Disease	mondo	SCTID:95544006|DOID:0050132			http://purl.obolibrary.org/obo/MONDO_0000252	An diarrhea (disease) involving a pathogenic inflammatory response in the intestinal mucosa.	DOID:0050132|SNOMEDCT:95544006
MONDO:0000251	diarrheal disease secondary to altered bowel motility	biolink:Disease	mondo			motility-related diarrhea|diarrhea secondary to altered bowel motility	http://purl.obolibrary.org/obo/MONDO_0000251	A diarrhea that results from either increased or decreased motility in the bowel.	
MONDO:0000250	osmotic diarrheal disease	biolink:Disease	mondo	MEDGEN:540779|UMLS:C0267556|SCTID:2946003|DOID:0050130		permeability diarrhea|osmotic diarrhea	http://purl.obolibrary.org/obo/MONDO_0000250	A diarrhea that results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption.	UMLS:C0267556|DOID:0050130|SNOMEDCT:2946003
MONDO:0012245	developmental and epileptic encephalopathy, 3	biolink:Disease	mondo	DOID:0080440|OMIM:609304		SLC25A22 early infantile epileptic encephalopathy|EIEE3|epileptic encephalopathy, early infantile, type 3|epileptic encephalopathy, early infantile, 3|early infantile epileptic encephalopathy caused by mutation in SLC25A22|epileptic encephalopathy, early infantile, 3; EIEE3|DEE3	http://purl.obolibrary.org/obo/MONDO_0012245	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC25A22 gene.	http://identifiers.org/omim/609304|DOID:0080440
MONDO:0012246	spinocerebellar ataxia type 26	biolink:Disease	mondo	OMIM:609306|GARD:0009995|DOID:0050975|MESH:C537203|UMLS:C1836395|ICD10:G11.2|SCTID:718769009|Orphanet:101112	ordo_disease	SCA26|spinocerebellar ataxia 26; SCA26|spinocerebellar ataxia 26|spinocerebellar ataxia type 26	http://purl.obolibrary.org/obo/MONDO_0012246	Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.	http://identifiers.org/omim/609306|MESH:C537203|SNOMEDCT:718769009|DOID:0050975|UMLS:C1836395|ORPHA:101112
HGNC:15868	ABHD12	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15868		
MONDO:0012243	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations	biolink:Disease	mondo	MESH:C563745|UMLS:C1836437|OMIM:609296		Bilu syndrome|Hoffman syndrome|B-cell immunodeficiency, distal limb anomalies, and urogenital malformations	http://purl.obolibrary.org/obo/MONDO_0012243		http://identifiers.org/omim/609296|MESH:C563745|UMLS:C1836437
MONDO:0012244	prostate cancer, hereditary, 5	biolink:Disease	mondo	OMIM:609299|MESH:C563744|UMLS:C1836436		prostate cancer, hereditary, type 5|prostate cancer, hereditary, 5|HPC5	http://purl.obolibrary.org/obo/MONDO_0012244		http://identifiers.org/omim/609299|MESH:C563744|UMLS:C1836436
MONDO:0012249	colorectal cancer, hereditary nonpolyposis, type 2	biolink:Disease	mondo	NCIT:C6726|OMIM:609310|MESH:D055847|DOID:0070274		Hereditary non-polyposis colon cancer type 2|COCA2|colorectal cancer, hereditary nonpolyposis, type 2|colorectal cancer, hereditary nonpolyposis, type 2; HNPCC2|HNPCC2|colon cancer, familial nonpolyposis, type 2|Hereditary nonpolyposis colorectal cancer type 2|familial non-polyposis colon cancer type 2|Lynch 2 syndrome	http://purl.obolibrary.org/obo/MONDO_0012249	A rare genetic neoplastic syndrome with an autosomal dominant pattern of inheritance but incomplete penetrance. It is associated with an inherited risk for malignancy, in particular, colorectal, endometrial or gastric carcinoma. It is caused by mutations in one of the mismatch repair genes: MSH2, MLH1, MSH6 or PMS2. It usually manifests at age 50 or younger with multiple synchronous or metachronous proximal colonic or extracolonic cancers. Clinical course is rapidly progressive. Prognosis is variable with high risk for development of gastrointestinal, reproductive or urinary tract cancer. However, survival is significantly better than non-HNPCC carcinomas of equivalent stage.	DOID:0070274|http://identifiers.org/omim/609310|MESH:D055847|NCIT:C6726
HGNC:15865	KIZ	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15865		
HGNC:15864	RBCK1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15864		
HGNC:13203	AICDA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13203		
MONDO:0012247	spinocerebellar ataxia type 27	biolink:Disease	mondo	UMLS:C4304846|OMIM:609307|ICD10:G11.8|GARD:0009963|DOID:0050976|MESH:C537204|SCTID:719252002|UMLS:C1836383|Orphanet:98764	ordo_disease	SCA27|spinocerebellar ataxia 27; SCA27|cerebellar ataxia autosomal dominant FGF14-related|spinocerebellar ataxia 27|cerebellar ataxia, autosomal dominant, Fgf14-related|spinocerebellar ataxia type 27	http://purl.obolibrary.org/obo/MONDO_0012247	Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.	SNOMEDCT:719252002|http://identifiers.org/omim/609307|MESH:C537204|ORPHA:98764|UMLS:C4304846|DOID:0050976|UMLS:C1836383
MONDO:0012248	autosomal recessive limb-girdle muscular dystrophy type 2K	biolink:Disease	mondo	Orphanet:86812|EFO:0009145|ICD10:G71.0|DOID:0110297|NCIT:C133730|SCTID:720523006|GARD:0012535|OMIM:609308	ordo_disease	autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1|muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1|POMT1 autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1; MDDGC1|limb-girdle muscular dystrophy - intellectual disability|MDDGC1|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1|muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1|LGMD2K|muscular dystrophy, limb-girdle, type 2K|limb-girdle muscular dystrophy-intellectual disability syndrome|muscular dystrophy limb-girdle type 2K|limb-girdle muscular dystrophy type 2K	http://purl.obolibrary.org/obo/MONDO_0012248	Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.	SNOMEDCT:720523006|http://identifiers.org/omim/609308|NCIT:C133730|ORPHA:86812|DOID:0110297
HGNC:15860	PRPF6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15860		
HGNC:13201	ADAMTS10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13201		
MONDO:0012241	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	biolink:Disease	mondo	UMLS:C1836439|OMIM:609286|MESH:C563747|DOID:0111520		progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 3|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3; PEOA3|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3|progressive external ophthalmoplegia, autosomal dominant 3|TWNK progressive external ophthalmoplegia with mitochondrial DNA deletions|progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in TWNK|PEOA3	http://purl.obolibrary.org/obo/MONDO_0012241	Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the TWNK gene.	http://identifiers.org/omim/609286|DOID:0111520|UMLS:C1836439|MESH:C563747
MONDO:0012242	VVS	biolink:Disease	mondo	OMIM:609289|MESH:C536849|UMLS:C1836438|GARD:0009502		familial vasovagal syncope|VVS|syncope, familial VASOVAGAL; VVS|familial neurocardiogenic syncope|syncope familial neurocardiogenic|syncope, familial Neurocardiogenic|syncope, familial VASOVAGAL	http://purl.obolibrary.org/obo/MONDO_0012242		http://identifiers.org/omim/609289|MESH:C536849|UMLS:C1836438
MONDO:0012240	nemaline myopathy 4	biolink:Disease	mondo	OMIM:609285|MESH:C538351|UMLS:C1836447|DOID:0110932		nemaline myopathy type 4|TPM2 nemaline myopathy|nemaline myopathy 4; NEM4|nemaline myopathy 4, autosomal dominant|nemaline myopathy 4|nemaline myopathy caused by mutation in TPM2|NEM4|Cap myopathy 2	http://purl.obolibrary.org/obo/MONDO_0012240	Any nemaline myopathy in which the cause of the disease is a mutation in the TPM2 gene.	http://identifiers.org/omim/609285|MESH:C538351|DOID:0110932|UMLS:C1836447
MONDO:0000267	obsolete cryptogenic organizing pneumonia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000267		
MONDO:0000266	pulmonary aspergilloma	biolink:Disease	mondo	MESH:D055732|UMLS:C2350529|DOID:0050153		lung aspergillosis	http://purl.obolibrary.org/obo/MONDO_0000266	A aspergillosis that involves the lung.	UMLS:C2350529|MESH:D055732|DOID:0050153
MONDO:0000265	aspiration pneumonia (disease)	biolink:Disease	mondo	MESH:D011015|ICD10:J69.0|SCTID:422588002|HP:0011951|UMLS:C0032290|DOID:0050152|UMLS:C0085740		aspiration Pneumonias|Pneumonias, aspiration|gastric acid aspiration syndrome|syndrome, acid aspiration|Mendelsons syndrome|syndromes, acid aspiration|aspiration pneumonia|Mendelson's syndrome|syndrome, Mendelson|Mendelson syndrome|syndrome, Mendelson's|acid aspiration syndromes|acid aspiration syndrome|inhalation pneumonia	http://purl.obolibrary.org/obo/MONDO_0000265	A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper respiratory tract.	UMLS:C0032290|DOID:0050152|UMLS:C0085740|SNOMEDCT:422588002|MESH:D011015
MONDO:0000264	obsolete Pontiac fever	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000264		
MONDO:0000269	obsolete inhalation anthrax	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000269		
MONDO:0000268	obsolete lymphoid interstitial pneumonia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000268		
MONDO:0012229	MYP9	biolink:Disease	mondo	MESH:C563759|OMIM:609258|UMLS:C1836504		MYP9|myopia 9|myopia 9; MYP9	http://purl.obolibrary.org/obo/MONDO_0012229		MESH:C563759|UMLS:C1836504|http://identifiers.org/omim/609258
MONDO:0000263	laryngotracheitis	biolink:Disease	mondo	ICD9:464|SCTID:55130001|DOID:0050148|UMLS:C0023076|ICD10:J04.2|ICD10:J37.1|ICD10:J04|ICD9:464.2|ICD9:476.1			http://purl.obolibrary.org/obo/MONDO_0000263	An inflammation of both larynx and trachea.	DOID:0050148|SNOMEDCT:55130001|UMLS:C0023076
MONDO:0000262	otomycosis	biolink:Disease	mondo	MESH:D059249|UMLS:C0029895|DOID:0050147|SCTID:53316003|ICD9:111.8		Singapore ear|otitis mycotic externa|external ear fungal infectious disease	http://purl.obolibrary.org/obo/MONDO_0000262	Fungus infection of the external ear, usually by aspergillus species	DOID:0050147|SNOMEDCT:53316003|MESH:D059249|UMLS:C0029895
MONDO:0000261	adenoiditis	biolink:Disease	mondo	ICD10:J35.02|DOID:0050145|UMLS:C0001427|ICD9:474.01|COHD:439851|UMLS:C0396023|SCTID:70020005		inflammation of pharyngeal tonsil|pharyngeal tonsil inflammation|pharyngeal tonsilitis|chronic adenoiditis	http://purl.obolibrary.org/obo/MONDO_0000261	An inflammatory disease involving a pathogenic inflammatory response in the pharyngeal tonsil.	UMLS:C0001427|DOID:0050145|UMLS:C0396023|SNOMEDCT:70020005
MONDO:0000260	obsolete Kartagener syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000260		
MONDO:0014897	portal hypertension, noncirrhotic	biolink:Disease	mondo	UMLS:C4310735|OMIM:617068		NCPH|portal hypertension, noncirrhotic|portal hypertension, noncirrhotic; NCPH|NCPH	http://purl.obolibrary.org/obo/MONDO_0014897		UMLS:C4310735|http://identifiers.org/omim/617068
MONDO:0012234	obsolete LFS3	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0012234		
MONDO:0012235	autosomal recessive spinocerebellar ataxia 7	biolink:Disease	mondo	OMIM:609270|ICD10:G11.1|MESH:C563753|DOID:0080059|UMLS:C1836474|Orphanet:284324|GARD:0012232	gard_rare|ordo_disease	childhood onset autosomal recessive slowly progressive spinocerebellar ataxia|autosomal recessive spinocerebellar ataxia type 7|childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia|spinocerebellar ataxia, autosomal recessive 7; SCAR7|spinocerebellar ataxia, autosomal recessive type 7|spinocerebellar ataxia autosomal recessive 7|SCAR7|spinocerebellar ataxia, autosomal recessive 7	http://purl.obolibrary.org/obo/MONDO_0012235	Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements)and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner.	MESH:C563753|http://identifiers.org/omim/609270|DOID:0080059|ORPHA:284324|UMLS:C1836474
MONDO:0014896	congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	biolink:Disease	mondo	Orphanet:486815|OMIM:617066|UMLS:C4310736	ordo_disease	muscular dystrophy, congenital, Davignon-Chauveau type|muscular dystrophy, congenital, Davignon-Chauveau type; MDCDC|MDCDC|congenital muscular dystrophy, Davignon-Chauveau type	http://purl.obolibrary.org/obo/MONDO_0014896		ORPHA:486815|UMLS:C4310736|http://identifiers.org/omim/617066
MONDO:0012232	stuttering, familial persistent, 2	biolink:Disease	mondo	MESH:C563756|OMIM:609261|UMLS:C1836484		stuttering, familial persistent, 2|STUT2|stuttering, familial persistent, 2; STUT2	http://purl.obolibrary.org/obo/MONDO_0012232		http://identifiers.org/omim/609261|MESH:C563756|UMLS:C1836484
MONDO:0014895	developmental and epileptic encephalopathy, 40	biolink:Disease	mondo	DOID:0080427|OMIM:617065|UMLS:C4310737		epileptic encephalopathy, early infantile, 40; EIEE40|EIEE40|DEE40|epileptic encephalopathy, early infantile, 40|early infantile epileptic encephalopathy caused by mutation in GUF1|GUF1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, type 40	http://purl.obolibrary.org/obo/MONDO_0014895	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GUF1 gene.	UMLS:C4310737|DOID:0080427|http://identifiers.org/omim/617065
MONDO:0012233	Li-Fraumeni syndrome 2	biolink:Disease	mondo	UMLS:C1836482|MESH:C563755|OMIM:609265|DOID:0111504	clingen	Li-Fraumeni syndrome type 2|LFS2|CHEK2 Li-Fraumeni syndrome|Li-Fraumeni syndrome 2|Li-Fraumeni syndrome 2; LFS2|Li-Fraumeni syndrome caused by mutation in CHEK2	http://purl.obolibrary.org/obo/MONDO_0012233	Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the CHEK2 gene.	http://identifiers.org/omim/609265|DOID:0111504|MESH:C563755|UMLS:C1836482
MONDO:0014894	Meier-Gorlin syndrome 7	biolink:Disease	mondo	OMIM:617063|UMLS:C4310738|DOID:0080518		Meier-Gorlin syndrome caused by mutation in CDC45|MGORS7|Meier-Gorlin syndrome type 7|Meier-Gorlin syndrome 7; MGORS7|Meier-Gorlin syndrome 7|CDC45 Meier-Gorlin syndrome	http://purl.obolibrary.org/obo/MONDO_0014894	Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC45 gene.	UMLS:C4310738|DOID:0080518|http://identifiers.org/omim/617063
MONDO:0012238	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	biolink:Disease	mondo	UMLS:C1836460|MESH:C563750|DOID:0111517|OMIM:609283		SLC25A4 progressive external ophthalmoplegia with mitochondrial DNA deletions|progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in SLC25A4|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2; PEOA2|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 2|PEOA2|progressive external ophthalmoplegia, autosomal dominant 2|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	http://purl.obolibrary.org/obo/MONDO_0012238	Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the SLC25A4 gene.	UMLS:C1836460|MESH:C563750|http://identifiers.org/omim/609283|DOID:0111517
MONDO:0012239	nemaline myopathy 1	biolink:Disease	mondo	OMIM:609284|UMLS:C1836448|DOID:0110926|MESH:C538348		nemaline myopathy type 1|nemaline myopathy 1; NEM1|nemaline myopathy 1|nemaline myopathy caused by mutation in TPM3|Cap myopathy 1|nemaline myopathy 1, autosomal dominant or recessive|Nem1|TPM3 nemaline myopathy	http://purl.obolibrary.org/obo/MONDO_0012239	Any nemaline myopathy in which the cause of the disease is a mutation in the TPM3 gene.	DOID:0110926|UMLS:C1836448|http://identifiers.org/omim/609284|MESH:C538348
MONDO:0014899	adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	biolink:Disease	mondo	Orphanet:329314|UMLS:C4310733|OMIM:617070|DOID:0111516|ICD10:G71.3|SCTID:733599009	ordo_disease	adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 4|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4; PEOB4|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4|PEOB4|progressive external ophthalmoplegia, autosomal recessive 4	http://purl.obolibrary.org/obo/MONDO_0014899	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is an extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.	UMLS:C4310733|ORPHA:329314|DOID:0111516|http://identifiers.org/omim/617070|SNOMEDCT:733599009
MONDO:0012236	KTCN4	biolink:Disease	mondo	MESH:C563752|OMIM:609271|UMLS:C1836473		keratoconus 4; KTCN4|keratoconus 4|KTCN4	http://purl.obolibrary.org/obo/MONDO_0012236		UMLS:C1836473|MESH:C563752|http://identifiers.org/omim/609271
MONDO:0012237	nemaline myopathy 6	biolink:Disease	mondo	MESH:C538398|OMIM:609273|DOID:0110935|UMLS:C1836472		nemaline myopathy caused by mutation in KBTBD13|nemaline myopathy 6, autosomal dominant|NEM6|nemaline myopathy 6; NEM6|nemaline myopathy type 6|KBTBD13 nemaline myopathy|nemaline myopathy 6	http://purl.obolibrary.org/obo/MONDO_0012237	Any nemaline myopathy in which the cause of the disease is a mutation in the KBTBD13 gene.	UMLS:C1836472|DOID:0110935|http://identifiers.org/omim/609273|MESH:C538398
MONDO:0014898	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	biolink:Disease	mondo	OMIM:617069|UMLS:C4310734|DOID:0111523		progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 3|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3; PEOB3|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3|autosomal recessive progressive external ophthalmoplegia caused by mutation in TK2|progressive external ophthalmoplegia, autosomal recessive 3|PEOB3|TK2 autosomal recessive progressive external ophthalmoplegia	http://purl.obolibrary.org/obo/MONDO_0014898	Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the TK2 gene.	UMLS:C4310734|DOID:0111523|http://identifiers.org/omim/617069
HGNC:13210	ARL6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13210		
HGNC:13211	ATP2C1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13211		
MONDO:0014893	Okur-Chung neurodevelopmental syndrome	biolink:Disease	mondo	OMIM:617062|UMLS:C4310739		Okur-Chung neurodevelopmental syndrome|Okur-Chung neurodevelopmental syndrome; OCNDS|OCNDS	http://purl.obolibrary.org/obo/MONDO_0014893		UMLS:C4310739|http://identifiers.org/omim/617062
MONDO:0012230	MYP10	biolink:Disease	mondo	UMLS:C1836503|OMIM:609259|MESH:C563758		myopia 10|myopia 10; MYP10|MYP10	http://purl.obolibrary.org/obo/MONDO_0012230		http://identifiers.org/omim/609259|MESH:C563758|UMLS:C1836503
MONDO:0012231	Charcot-Marie-Tooth disease type 2A2	biolink:Disease	mondo	Orphanet:99947|DOID:0110155|MESH:C563757|UMLS:C1836485|SCTID:764850002|NCIT:C150646|OMIM:609260|ICD10:G60.0	ordo_disease	Charcot-Marie-Tooth neuropathy, type 2A2|autosomal dominant Charcot-Marie-Tooth disease type 2A2|Charcot-Marie-Tooth disease type 2A2A|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2A|HMSN IIA2|MFN2 Charcot-Marie-Tooth disease type 2|hereditary motor and sensory neuropathy IIa2|Charcot-Marie-Tooth neuropathy type 2A2|CMT2A2A|Charcot-Marie-Tooth disease, axonal, type 2A2; CMT2A2|hereditary motor and sensory neuropathy IIA2|Charcot-Marie-Tooth disease, neuronal, type 2A2|Charcot-Marie-Tooth disease, axonal, type 2A2|Charcot-Marie-Tooth disease type 2 caused by mutation in MFN2|Charcot-Marie-Tooth neuronal type 2A2|autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2|CMT2A2|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2A; CMT2A2A|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2|HMSN2A2|HMSN IIa2	http://purl.obolibrary.org/obo/MONDO_0012231	Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported.	http://identifiers.org/omim/609260|ORPHA:99947|NCIT:C150646|DOID:0110155|SNOMEDCT:764850002|MESH:C563757|UMLS:C1836485
MONDO:0014892	micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	biolink:Disease	mondo	OMIM:617061|UMLS:C4310740|Orphanet:476126|DOID:0070074	ordo_malformation_syndrome	mercer-Ba syndrome|autosomal dominant mental retardation 44|autosomal dominant intellectual disability 44|intellectual disability, autosomal dominant 44; MRD44|intellectual disability, autosomal dominant 44|autosomal dominant non-syndromic intellectual disability 44|MRD44|mental retardation, autosomal dominant 44|MEBAS|mental retardation, autosomal dominant 44; MRD44	http://purl.obolibrary.org/obo/MONDO_0014892		UMLS:C4310740|ORPHA:476126|http://identifiers.org/omim/617061|DOID:0070074
MONDO:0014891	hyperuricemic nephropathy, familial juvenile type 4	biolink:Disease	mondo	UMLS:C4310741|OMIM:617056		SEC61A1-related autosomal dominant tubulointerstitial kidney disease|SEC61A1 familial juvenile hyperuricemic nephropathy|hyperuricemic NEPHROPATHY, familial juvenile, 4; HNFJ4|HNFJ4|familial juvenile hyperuricemic nephropathy caused by mutation in SEC61A1|ADTKD-SEC61A1|hyperuricemic nephropathy, familial juvenile, type 4|hyperuricemic nephropathy, familial juvenile, 4	http://purl.obolibrary.org/obo/MONDO_0014891	Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene.	UMLS:C4310741|http://identifiers.org/omim/617056
MONDO:0014890	PERCHING syndrome	biolink:Disease	mondo	UMLS:C4310742|DOID:0080331|OMIM:617055		PERCHING|Postural and Palatal abnormalities; Exophthalmos and Enteral-tube dependency/feeding issues; Respiratory distress and Retinitis pigmentosa; Contractures and Camptodactyly; Hypertelorism and Hirsutism; Intrauterine growth retardation (IUGR)/growth failure and Intellectual disability/developmental delay; Nevus flammeus and Neurologic malformations; and facial Gestalt/grimacing and Genitourinary abnormalities|CRISPONI/cold-induced sweating syndrome 3; CISS3|CISS3|KLHL7 cold-induced sweating syndrome|cold-induced sweating syndrome type 3|cold-induced sweating syndrome caused by mutation in KLHL7|cold-induced sweating syndrome 3|Crisponi/cold-induced sweating syndrome 3	http://purl.obolibrary.org/obo/MONDO_0014890	Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the KLHL7 gene.	UMLS:C4310742|DOID:0080331|http://identifiers.org/omim/617055
MONDO:0024289	obsolete disorder of bilirubin metabolism	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0024289		
MONDO:0024288	hyperbilirubinemia	biolink:Disease	mondo	SCTID:14783006|UMLS:C0020433		bilirubinemia|hyperbilirubinemia	http://purl.obolibrary.org/obo/MONDO_0024288	A disease characterized by elevated level of the pigment bilirubin in the blood.	SNOMEDCT:14783006|UMLS:C0020433
MONDO:0024281	juvenile chronic polyarthritis	biolink:Disease	mondo	NCIT:C26979		juvenile chronic polyarthritis	http://purl.obolibrary.org/obo/MONDO_0024281	A group of conditions used to describe polyarthritis occurring in children.	NCIT:C26979
MONDO:0024280	polyarticular arthritis	biolink:Disease	mondo	NCIT:C26996|SCTID:416956002		polyarticular arthritis|polyarthritis	http://purl.obolibrary.org/obo/MONDO_0024280	An arthritis affecting five or more separate joints.	NCIT:C26996|SNOMEDCT:416956002
HP:0033127	Abnormality of the musculoskeletal system	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0033127	An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body.	
MONDO:0024283	Demodex folliculitis	biolink:Disease	mondo	SCTID:240894003|UMLS:C0392666|ICD9:133.8|ICD9:704.8		hair follicle demodicidosis	http://purl.obolibrary.org/obo/MONDO_0024283	A demodicidosis that involves the hair follicle.	SNOMEDCT:240894003|UMLS:C0392666
MONDO:0024282	mucinous ovarian cancer	biolink:Disease	mondo	NCIT:C40033|ONCOTREE:MOV|UMLS:C1518233		malignant ovarian mucinous tumor|ovarian mucinous neoplasm, malignant|malignant ovarian mucinous neoplasm	http://purl.obolibrary.org/obo/MONDO_0024282	An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. It includes mucinous adenocarcinoma and mucinous adenocarcinofibroma.	UMLS:C1518233|NCIT:C40033
MONDO:0024285	epsilon-heavy chain disease	biolink:Disease	mondo	UMLS:C0272254|ICD9:273.2|SCTID:60620005		IgE heavy chain disease	http://purl.obolibrary.org/obo/MONDO_0024285		UMLS:C0272254|SNOMEDCT:60620005
MONDO:0024284	demodicidosis of sebaceous gland	biolink:Disease	mondo			sebaceous gland demodicidosis	http://purl.obolibrary.org/obo/MONDO_0024284	A demodicidosis that involves the sebaceous gland.	
MONDO:0024287	congenital vascular malformation	biolink:Disease	mondo	NCIT:C112117		vascular malformation|congenital vascular malformation	http://purl.obolibrary.org/obo/MONDO_0024287	A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels.	NCIT:C112117
MONDO:0024286	benign blood vessel neoplasm	biolink:Disease	mondo	UMLS:C0685121|NCIT:C8537		benign blood vessel tumor|benign blood vessel neoplasm	http://purl.obolibrary.org/obo/MONDO_0024286	A benign neoplasm arising from arteries or veins.	UMLS:C0685121|NCIT:C8537
HGNC:15844	HPS4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15844		
HGNC:15840	KMT2B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15840		
MONDO:0024278	proctocolitis	biolink:Disease	mondo	SCTID:418130002|UMLS:C0033247|NCIT:C77952		proctocolitis|colorectum inflammation|inflammation of colorectum	http://purl.obolibrary.org/obo/MONDO_0024278	Inflammation of the rectum and colon.	NCIT:C77952|SNOMEDCT:418130002|UMLS:C0033247
MONDO:0024277	neonatal thrombocytopenia	biolink:Disease	mondo	SCTID:82835005|MESH:D054098		neonatal purpura|purpura of newborn|neonatal thrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0024277		SNOMEDCT:82835005|MESH:D054098
GO:0000098	sulfur amino acid catabolic process	biolink:OntologyClass	mondo			sulfur amino acid breakdown|sulphur amino acid catabolism|sulphur amino acid catabolic process|sulfur amino acid degradation|sulfur amino acid catabolism	http://purl.obolibrary.org/obo/GO_0000098	The chemical reactions and pathways resulting in the breakdown of amino acids containing sulfur, comprising cysteine, methionine and selenocysteine.	
MONDO:0024279	chronic endometritis	biolink:Disease	mondo	SCTID:63922003|NCIT:C102820|UMLS:C0238104		chronic endometritis|endometritis, chronic	http://purl.obolibrary.org/obo/MONDO_0024279	A non-granulomatous or granulomatous chronic inflammation of the endometrium. Causes include sexually transmitted pathogens and gynecological procedures. Patients may present with irregular bleeding.	NCIT:C102820|UMLS:C0238104|SNOMEDCT:63922003
GO:0051604	protein maturation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0051604	Any process leading to the attainment of the full functional capacity of a protein.	
ENVO:01001795	ecosystem process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001795	An environmental process either driven by or primarily impacting the parts or emergent properties of an ecosystem.	
MONDO:0024270	parasitic intestinal disease	biolink:Disease	mondo	UMLS:C0021832|MESH:D007411		intestinal disease, parasitic|parasitic intestinal disease|disease, parasitic intestinal|intestine parasitic infection|diseases, parasitic intestinal|parasitic intestinal diseases	http://purl.obolibrary.org/obo/MONDO_0024270	Infections of the INTESTINES with PARASITES, commonly involving PARASITIC WORMS. Infections with roundworms (NEMATODE INFECTIONS) and tapeworms (CESTODE INFECTIONS) are also known as HELMINTHIASIS.	UMLS:C0021832|MESH:D007411
GO:0051608	histamine transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0051608	The directed movement of histamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Histamine is a physiologically active amine, found in plant and animal tissue and released from mast cells as part of an allergic reaction in humans.	
GO:0051606	detection of stimulus	biolink:OntologyClass	mondo			stimulus sensing|stimulus detection|perception of stimulus	http://purl.obolibrary.org/obo/GO_0051606	The series of events in which a stimulus is received by a cell or organism and converted into a molecular signal.	
MONDO:0024271	intestinal helminthiasis	biolink:Disease	mondo	UMLS:C0348287|SCTID:26249004|MESH:C531698		intestine parasitic helminthiasis infectious disease	http://purl.obolibrary.org/obo/MONDO_0024271	A parasitic helminthiasis infectious disease that involves the intestine.	UMLS:C0348287|MESH:C531698|SNOMEDCT:26249004
GO:0000096	sulfur amino acid metabolic process	biolink:OntologyClass	mondo			sulfur amino acid metabolism|sulphur amino acid metabolic process|sulphur amino acid metabolism	http://purl.obolibrary.org/obo/GO_0000096	The chemical reactions and pathways involving amino acids containing sulfur, comprising cysteine, homocysteine, methionine and selenocysteine.	
MONDO:0024276	glandular cell neoplasm	biolink:Disease	mondo	NCIT:C7132|HP:0031493|UMLS:C1333820		glandular cell neoplasm|glandular cell epithelium neoplasm|glandular cell tumor|glandular cell epithelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0024276		NCIT:C7132|UMLS:C1333820
MONDO:0024275	amebic dysentery	biolink:Disease	mondo	GARD:0000652|NCIT:C34558|MESH:D004404	gard_rare	colitis, amebic|Amebiases, intestinal|Colitides, amebic|amoebiasis due to Entamoeba histolytica|entamoebiasis, intestinal|intestinal Entamoebiases|dysenteries, amoebic|amoebic dysentery|amebic colitis|amebic colitides|amebiasis, intestinal|intestinal Amebiases|amoebic dysentery due to Entamoeba histolytica|intestinal entamoebiasis|dysentery, amoebic|amoebic dysenteries|amebic dysentery|amoebiases, intestinal|dysenteries, amebic|Colitides, amoebic|intestinal Amoebiases|colitis, amoebic|intestinal amebiasis|amoebiasis, intestinal|amebic dysenteries|amoebic colitis|Entamoebiases, intestinal|intestinal amoebiasis|amoebic Colitides	http://purl.obolibrary.org/obo/MONDO_0024275	Dysentery caused by intestinal amebic infection, chiefly with entamoeba histolytica. This condition may be associated with amebic infection of the liver and other distant sites.	MESH:D004404|NCIT:C34558
MONDO:0012298	omphalocele, diaphragmatic hernia, and radial ray defects	biolink:Disease	mondo	GARD:0010354|UMLS:C1836007|OMIM:609545|MESH:C563701		Gershoni-Baruch syndrome|omphalocele, diaphragmatic hernia, and radial ray defects	http://purl.obolibrary.org/obo/MONDO_0012298		UMLS:C1836007|MESH:C563701|http://identifiers.org/omim/609545
MONDO:0012299	nanophthalmos 2	biolink:Disease	mondo	OMIM:609549|UMLS:C1836006|MESH:C563700		nanophthalmos, autosomal recessive|MFRP nanophthalmia|nanophthalmos 2; NNO2|NNO2|nanophthalmos type 2|Nanophthalmia 2|nanophthalmia caused by mutation in MFRP|nanophthalmos 2	http://purl.obolibrary.org/obo/MONDO_0012299	Any nanophthalmia in which the cause of the disease is a mutation in the MFRP gene.	UMLS:C1836006|MESH:C563700|http://identifiers.org/omim/609549
HGNC:15853	ARFGEF2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15853		
MONDO:0012292	hepatitis c virus, susceptibility to	biolink:Disease	mondo	UMLS:C2750389|OMIM:609532	predisposition	Hepatitis C Virus infection, response to therapy of|hepatitis c virus, susceptibility to|Hepatitis C Virus, resistance to|HCV, resistance to|HCV, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0012292		UMLS:C2750389|http://identifiers.org/omim/609532
MONDO:0012293	autosomal recessive nonsyndromic deafness 23	biolink:Disease	mondo	ICD10:H90.3|UMLS:C1836027|MESH:C563705|DOID:0110481|OMIM:609533		deafness, autosomal recessive 23; DFNB23|autosomal recessive deafness 23|autosomal recessive nonsyndromic deafness type 23|deafness, autosomal recessive 23|DFNB23|autosomal recessive nonsyndromic deafness caused by mutation in PCDH15|PCDH15 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 23	http://purl.obolibrary.org/obo/MONDO_0012293	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PCDH15 gene.	DOID:0110481|UMLS:C1836027|MESH:C563705|http://identifiers.org/omim/609533
MONDO:0012290	CEDNIK syndrome	biolink:Disease	mondo	ICD10:Q82.8|OMIM:609528|MESH:C537943|UMLS:C1836033|Orphanet:66631|GARD:0009940|DOID:0060337|SCTID:722385008	ordo_disease	cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome|cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome|CEDNIK syndrome|cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome	http://purl.obolibrary.org/obo/MONDO_0012290	CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.	UMLS:C1836033|DOID:0060337|ORPHA:66631|SNOMEDCT:722385008|http://identifiers.org/omim/609528|MESH:C537943
MONDO:0012291	immunoglobulin A deficiency 2	biolink:Disease	mondo	MESH:C536291|OMIM:609529|UMLS:C1836032|GARD:0010198	gard_rare	TNFRSF13B selective IgA deficiency disease|IMMUNOGLOBULIN A deficiency 2; IGAD2|IGAD2|selective IgA deficiency disease caused by mutation in TNFRSF13B|Immunoglobulin a deficiency type 2|Immunoglobulin A, selective deficiency of, TACI-related|IgA, selective deficiency of, TACI-related|immunoglobulin a deficiency 2|Immunoglobulin A, selective deficiency of, TACI related|IgA, selective deficiency of, TACI related	http://purl.obolibrary.org/obo/MONDO_0012291	Any selective IgA deficiency disease in which the cause of the disease is a mutation in the TNFRSF13B gene.	UMLS:C1836032|http://identifiers.org/omim/609529|MESH:C536291
MONDO:0012296	lipomyelomeningocele	biolink:Disease	mondo	ICD9:214.8|OMIM:609537|GARD:0010053|MESH:C537030|Orphanet:268835|UMLS:C1836022|SCTID:104431000119107|ICD10:Q05.9	ordo_morphological_anomaly|gard_rare	lipomyelomeningocele|familial lipomyelomeningocele	http://purl.obolibrary.org/obo/MONDO_0012296	Lipomyelomeningocele is a rare neural tube closure defect characterized by a subcutaneous lipoma that extends through a defect in the lumbodorsal fascia, vertebral neural arch, and dura. This painless lesion can occur anywhere along the spinal canal but usually is found in the sacral or lumbar region. If left untreated it can cause tethered cord syndrome.	SNOMEDCT:104431000119107|UMLS:C1836022|http://identifiers.org/omim/609537|MESH:C537030|ORPHA:268835
MONDO:0012297	SPOAN syndrome	biolink:Disease	mondo	ICD10:G11.4|DOID:0060491|OMIM:609541|MESH:C563702|UMLS:C1836010|Orphanet:320406	ordo_disease	SPOAN|spastic paraplegia, optic atropy, and neuropathy syndrome|spastic paraplegia, optic atrophy, and neuropathy|spastic paraplegia-optic atrophy-neuropathy syndrome|spastic paraplegia, optic atrophy, and neuropathy; SPOAN|spastic paraplegia, optic atropy, and neuropathy	http://purl.obolibrary.org/obo/MONDO_0012297	A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.	UMLS:C1836010|DOID:0060491|MESH:C563702|http://identifiers.org/omim/609541|ORPHA:320406
ENVO:01001790	terrestrial ecosystem	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001790		
MONDO:0012294	obsolete drug metabolism, poor, Cyp2C19-related	biolink:Disease	mondo	OMIM:609535|GARD:0012906|UMLS:C1836023		clopidogrel, poor metabolism of|Proguanil, poor metabolism of|Opremazole, poor metabolism of|Omeprazole, poor metabolism of|Mephenytoin, poor metabolism of|drug metabolism, poor, Cyp2C19-related	http://purl.obolibrary.org/obo/MONDO_0012294		UMLS:C1836023|http://identifiers.org/omim/609535
MONDO:0012295	complement component 5 deficiency	biolink:Disease	mondo	OMIM:609536|DOID:8158|UMLS:C0343047|NCIT:C9469|GARD:0006878		complement component 5 deficiency|complement component 5 deficiency; C5D|complement deficiency caused by mutation in C5|C5D|dysfunction of the fifth component of complement (C5)|C5 complement deficiency|C5 deficiency	http://purl.obolibrary.org/obo/MONDO_0012295	A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections.	DOID:8158|http://identifiers.org/omim/609536|UMLS:C0343047|NCIT:C9469
MONDO:0024267	obsolete epidemic encephalitis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0024267		
MONDO:0000299	thelaziasis	biolink:Disease	mondo	UMLS:C0344058|ICD9:128.8|DOID:0050261|SCTID:46477004		conjunctival spirurosis|thelaziasis|thelaziosis|verminous ophthalmia|Thelazia infectious disease|infection by Thelazia|Thelazia caused disease or disorder|infection caused by Thelazia|Thelazia disease or disorder	http://purl.obolibrary.org/obo/MONDO_0000299	A disease caused by infection with Thelazia.	DOID:0050261|SNOMEDCT:46477004|UMLS:C0344058
MONDO:0024266	patent ductus arteriosus 3	biolink:Disease	mondo	OMIM:617039		PDA3|patent ductus arteriosus 3; PDA3|patent ductus arteriosus caused by mutation in PRDM6|PRDM6 patent ductus arteriosus	http://purl.obolibrary.org/obo/MONDO_0024266	Any patent ductus arteriosus in which the cause of the disease is a mutation in the PRDM6 gene.	http://identifiers.org/omim/617039
MONDO:0000298	dioctophymiasis	biolink:Disease	mondo	SCTID:40410004|UMLS:C0012482|DOID:0050260		Dioctophyme renale infection|dioctophyma renale infection|Dioctophyme renale infectious disease|Dioctophyme renale caused disease or disorder|dioctophymosis|Dioctophyme renale disease or disorder|giant kidney worm disease	http://purl.obolibrary.org/obo/MONDO_0000298	A disease caused by infection with Dioctophyme renale.	DOID:0050260|SNOMEDCT:40410004|UMLS:C0012482
MONDO:0024269		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0024269		
MONDO:0024268	superficial mycosis	biolink:Disease	mondo	ICD9:117.9|ICD10:B36.9|DOID:0050133|UMLS:C2980104|SCTID:276206000|COHD:4077081		steroid-modified tinea infection|stratum corneum of epidermis fungal infectious disease|piedra	http://purl.obolibrary.org/obo/MONDO_0024268	A mycosis that is limited to the stratum corneum and essentially elicits no inflammation.	UMLS:C2980104|DOID:0050133|SNOMEDCT:276206000
MONDO:0000297	baylisascariasis	biolink:Disease	mondo	DOID:0050259|UMLS:C0162626|NCIT:C128397|UMLS:C0277150		Baylisascaris procyonis infectious disease|Baylisascaris procyonis caused disease or disorder|Baylisascaris procyonis disease or disorder|raccoon roundworm infection	http://purl.obolibrary.org/obo/MONDO_0000297	An infection that is caused by the raccoon nematode Baylisascaris procyonis, which is transmitted by the ingestion of embryonated eggs in contaminated soil; symptoms depend on larval migration sites (visceral organs, eye, or brain) provoking severe inflammatory responses.	UMLS:C0162626|UMLS:C0277150|DOID:0050259|NCIT:C128397
UBERON:5001466	pedal digit plus metapodial segment	biolink:AnatomicalEntity	mondo			pedal digit|pedal digit digitopodial subdivision|pedal digit ray|pedal digit ( phalanges plus metapodial) plus soft tissue	http://purl.obolibrary.org/obo/UBERON_5001466	A subdivision of the autopod consisting of pedal digit plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis.	
MONDO:0000292	philophthalmiasis	biolink:Disease	mondo	DOID:0050250		Philophthalmus disease or disorder|Philophthalmus infectious disease|Philophthalmus caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0000292	A disease caused by infection with Philophthalmus.	DOID:0050250
MONDO:0000291	granulomatous amebic encephalitis	biolink:Disease	mondo	DOID:0050246|SCTID:230187000|GARD:0012651|ICD9:323.2|UMLS:C0338428	gard_rare	Acanthamoeba granulomatous encephalitis|granulomatous amoebic encephalitis|Acanthamoeba encephalitis|granulomatous amebic encephalitis due to Acanthamoeba	http://purl.obolibrary.org/obo/MONDO_0000291	Granulomatous amebic encephalitis is a life-threatening infection of the brain caused by the free-living amoebae Acanthamoeba spp., Balamuthia mandrillaris and Sappinia pedata. Acanthamoeba species, are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. The disease affects immunocompromised peple and is very serious. Symptoms include mental status changes, loss of coordination, fever, muscular weakness or partial paralysis affecting one side of the body, double vision, sensitivity to light and other neurologic problems. The diagnosis is difficult and is often made at advanced stages. Tests useful in the diagnosis include brain scans, biopsies, or spinal taps and in disseminated disease, biopsy of the involved sites and testing by the laboratory experts. Early diagnosis is important for the prognosis. No single drug is effective; hence multiple antibiotics are needed for successful treatment. A combination of surgical and medical interventions involving multiple specialty experts is required to prevent death and morbidity in survivors.	UMLS:C0338428|SNOMEDCT:230187000|DOID:0050246
MONDO:0000290	primary amebic meningoencephalitis	biolink:Disease	mondo	DOID:0050242|UMLS:C0300934|MESH:C535275|GARD:0009554|SCTID:721816008|UMLS:C4303098		Naegleria fowleri infection|infections, Naegleria fowleri	http://purl.obolibrary.org/obo/MONDO_0000290	A infectious disease involving the Naegleria fowleri.	MESH:C535275|UMLS:C0300934|SNOMEDCT:721816008|DOID:0050242|UMLS:C4303098
MONDO:0000296	obsolete angiostrongyliasis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000296		
MONDO:0024263	neonatal aspiration syndrome	biolink:Disease	mondo	UMLS:C0349468|NCIT:C118312|SCTID:276533002			http://purl.obolibrary.org/obo/MONDO_0024263	Aspiration of meconium, blood, amniotic fluid or gastric contents around the time of delivery resulting in clinical symptoms from airway obstruction, parenchymal injury, and ventilation-perfusion mismatch. This may lead to persistent pulmonary hypertension in the newborn.	UMLS:C0349468|SNOMEDCT:276533002|NCIT:C118312
MONDO:0000295	acanthocephaliasis	biolink:Disease	mondo	SCTID:105713003|DOID:0050254|UMLS:C0277331		infection by Acanthocephala|Acanthocephala disease or disorder|disease caused by Acanthocephala|disease due to Acanthocephala|infection by thorny-headed worm|Acanthocephala infectious disease|Acanthocephala caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0000295	An disease or disorder caused by infection with Acanthocephala.	DOID:0050254|UMLS:C0277331|SNOMEDCT:105713003
MONDO:0024262	massive neonatal aspiration syndrome	biolink:Disease	mondo	SCTID:10269001			http://purl.obolibrary.org/obo/MONDO_0024262		SNOMEDCT:10269001
MONDO:0000294	mesocestoidiasis	biolink:Disease	mondo	UMLS:C0277110|DOID:0050253|UMLS:C0277108|SCTID:85750001		infection caused by Mesocestoides|Mesocestoides disease or disorder|infection by Mesocestoides|Mesocestoides infectious disease|Mesocestoides caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0000294	An disease or disorder caused by infection with Mesocestoides.	SNOMEDCT:85750001|UMLS:C0277110|UMLS:C0277108|DOID:0050253
MONDO:0024265	Duane syndrome type 1	biolink:Disease	mondo	GARD:0010763|SCTID:128082002|OMIM:126800	gard_rare	Duane retraction syndrome 1; DURS1|Duane syndrome|retraction syndrome|Duane anomaly|Drs|DURS1|Duane retraction syndrome 1	http://purl.obolibrary.org/obo/MONDO_0024265	Duane syndrome type 1 is the most common type of Duane syndrome, an eye movement disorder that is present at birth. People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). The different types are distinguished by the eye movements that are most restricted. Duane syndrome type 1 is characterized by absent to very restricted abduction and normal to mildly restricted adduction. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit with adduction. With abduction, the reverse occurs. One or both eyes may be affected. The majority of cases are sporadic (not inherited), while about 10% are familial. 70% of affected people do not have any other abnormalities at birth (isolated Duane syndrome). Treatment is mainly supportive and may include glasses or contact lenses for vision correction, eye patches, or surgery.	SNOMEDCT:128082002|http://identifiers.org/omim/126800
MONDO:0024264	hypothyroidism, congenital, nongoitrous, 2	biolink:Disease	mondo	DOID:0070124|ICD10:E03.1|OMIM:218700		thyroid agenesis|thyroid hypoplasia|congenital nongoitrous hypothyroidism 2|resistance to thyrotropin|congenital nongoitrous hypothryoidism 2|CHNG2|hypothyroidism, congenital, due to thyroid dysgenesis|thyrotropin resistance|hypothyroidism, athyreotic|congenital hypothyroidism due to thyroid dysgenesis or hypoplasia|thyroid, ectopic|athyreotic hypothyroidism|hypothyroidism, congenital, nongoitrous, 2; CHNG2|thyroid dysgenesis	http://purl.obolibrary.org/obo/MONDO_0024264	A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13.	DOID:0070124|http://identifiers.org/omim/218700
MONDO:0000293	coenurosis	biolink:Disease	mondo	UMLS:C0009225|ICD9:123.8|DOID:0050251|SCTID:24360007		caenurosis|sturdy|infection by larvae of multiceps|infection by tapeworm larva|coenuriasis|coenurosis	http://purl.obolibrary.org/obo/MONDO_0000293	A parasitic infection that develops in the intermediate hosts of some tapeworm species (Taenia multiceps, T. serialis, T. brauni, or T. glomerata) and are caused by the coenurus, the larval stage of these worms. This disease occurs mainly in sheep and other ungulates, but occasionally can occur in humans too by accidental ingestion of worms' eggs.	SNOMEDCT:24360007|UMLS:C0009225|DOID:0050251
MONDO:0012289	myofibrillar myopathy 5	biolink:Disease	mondo	MESH:C537932|OMIM:609524|DOID:0080096|Orphanet:171445|ICD10:G71.8	ordo_disease	myofibrillar myopathy (disease) caused by mutation in FLNC|myopathy, myofibrillar, type 5|filaminopathy|muscle filaminopathy|myopathy, myofibrillar, 5|FLNC myofibrillar myopathy (disease)|myopathy, myofibrillar, 5; MFM5|myopathy, myofibrillar, filamin C-related|myofibrillar myopathy type 5|MFM5|filaminopathy, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0012289	Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases.	MESH:C537932|ORPHA:171445|http://identifiers.org/omim/609524|DOID:0080096
MONDO:0012287	Stickler syndrome, type I, nonsyndromic ocular	biolink:Disease	mondo	OMIM:609508|UMLS:C1836080		rhegmatogenous retinal detachment, autosomal dominant|Stickler syndrome, type I, predominantly ocular|Stickler syndrome, type i, nonsyndromic ocular|Stickler syndrome, atypical	http://purl.obolibrary.org/obo/MONDO_0012287		UMLS:C1836080|http://identifiers.org/omim/609508
MONDO:0012288	iridogoniodysgenesis and skeletal anomalies	biolink:Disease	mondo	GARD:0010058|MESH:C535534|UMLS:C1836074|OMIM:609515	gard_rare	iridogoniodysgenesis and skeletal anomalies	http://purl.obolibrary.org/obo/MONDO_0012288		MESH:C535534|UMLS:C1836074|http://identifiers.org/omim/609515
MONDO:0012281	obsolete sarcoidosis, early-onset	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0012281		
MONDO:0012282	Al-Gazali syndrome	biolink:Disease	mondo	GARD:0010054|OMIM:609465|Orphanet:2725|UMLS:C1836121|MESH:C536817	gard_rare|ordo_malformation_syndrome	Al Gazali syndrome|eye defects arachnodactyly cardiopathy|Al Gazali Al Talabani syndrome|Al-Gazali syndrome	http://purl.obolibrary.org/obo/MONDO_0012282	An autosomal recessive syndrome characterized by joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality.	MESH:C536817|UMLS:C1836121|http://identifiers.org/omim/609465|ORPHA:2725
MONDO:0012280	Goldberg-Shprintzen megacolon syndrome	biolink:Disease	mondo	GARD:0009849|MESH:C537279|SCTID:717822006|DOID:0060481|ICD10:Q87.8|Orphanet:66629|OMIM:609460|UMLS:C1836123	ordo_malformation_syndrome	megacolon-microcephaly syndrome|GOSHS|Goldberg-Shprintzen megacolon syndrome|Goldberg-Shprintzen syndrome; GOSHS|Goldberg-Shprintzen syndrome	http://purl.obolibrary.org/obo/MONDO_0012280	Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.	UMLS:C1836123|DOID:0060481|ORPHA:66629|http://identifiers.org/omim/609460|MESH:C537279|SNOMEDCT:717822006
MONDO:0012285	LVNC2	biolink:Disease	mondo	OMIM:609470|UMLS:C1836118		LVNC2|left ventricular noncompaction 2|left ventricular noncompaction 2; LVNC2	http://purl.obolibrary.org/obo/MONDO_0012285		UMLS:C1836118|http://identifiers.org/omim/609470
MONDO:0012286	myopathy, autophagic vacuolar, infantile-onset	biolink:Disease	mondo	OMIM:609500		myopathy, autophagic vacuolar, infantile-onset	http://purl.obolibrary.org/obo/MONDO_0012286		http://identifiers.org/omim/609500
MONDO:0012283	cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss	biolink:Disease	mondo	GARD:0010063|OMIM:609466|UMLS:C1836120|MESH:C536427	gard_rare	cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss	http://purl.obolibrary.org/obo/MONDO_0012283		MESH:C536427|UMLS:C1836120|http://identifiers.org/omim/609466
MONDO:0012284	nephropathy, progressive, with deafness	biolink:Disease	mondo	UMLS:C1836119|OMIM:609469|MESH:C563713		Alport/focal segmental glomerulosclerosis-like syndrome|nephropathy, progressive, with deafness|Nede	http://purl.obolibrary.org/obo/MONDO_0012284		UMLS:C1836119|MESH:C563713|http://identifiers.org/omim/609469
MONDO:0024255	genetic skin disease	biolink:Disease	mondo	SCTID:239001006|MESH:D012873		diseases, genetic skin|skin disease, genetic|genodermatosis|disease, genetic skin|genetic skin diseases|genetic skin disease	http://purl.obolibrary.org/obo/MONDO_0024255	An instance of skin disease that is caused by a modification of the individual's genome.	SNOMEDCT:239001006|MESH:D012873
MONDO:0024257	hereditary motor neuron disease	biolink:Disease	mondo	Orphanet:98505|SCTID:49793008|UMLS:CN207018	ordo_group_of_disorders	genetic anterior horn cell disease|hereditary motor neuron disease|genetic motor neuron disease	http://purl.obolibrary.org/obo/MONDO_0024257	An instance of motor neuron disease that is caused by an inherited modification of the individual's genome.	SNOMEDCT:49793008|ORPHA:98505|UMLS:CN207018
NCBITaxon:12103	Cardiovirus	organism taxon	mondo	GC_ID:1		Cardioviruses	http://purl.obolibrary.org/obo/NCBITaxon_12103		
GO:0000070	mitotic sister chromatid segregation	biolink:OntologyClass	mondo			mitotic sister-chromatid adhesion release|mitotic chromosome segregation	http://purl.obolibrary.org/obo/GO_0000070	The cell cycle process in which replicated homologous chromosomes are organized and then physically separated and apportioned to two sets during the mitotic cell cycle. Each replicated chromosome, composed of two sister chromatids, aligns at the cell equator, paired with its homologous partner. One homolog of each morphologic type goes into each of the resulting chromosome sets.	
MONDO:0024250	acute lichenoid pityriasis	biolink:Disease	mondo	SCTID:86487001|ICD9:696.5		Mucha-Habermann disease|PLEVA|Mucha Habermann disease|disease, Habermann|mucha-habermann syndrome|Habermann disease|disease, Habermann's|Habermanns disease|mucha-habermann disease|Habermann's disease|parapsoriasis lichenoides et varioliformis acuta|mucha habermann disease|disease, Mucha-Habermann|parapsoriasis varioliformis acuta	http://purl.obolibrary.org/obo/MONDO_0024250		SNOMEDCT:86487001
MONDO:0024252	global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome	biolink:Disease	mondo	Orphanet:488613	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0024252		ORPHA:488613
MONDO:0024251	Minamata disease	biolink:Disease	mondo	SCTID:39640004|UMLS:CN200665		Chisso-Minamata disease	http://purl.obolibrary.org/obo/MONDO_0024251	A neurological syndrome caused by severe mercury poisoning.	UMLS:CN200665|SNOMEDCT:39640004
MONDO:0024254	obsolete vibratory angioedema	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0024254		
MONDO:0024253		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0024253		
MONDO:0012278	PSNP2	biolink:Disease	mondo	UMLS:C1836148|MESH:C563717|OMIM:609454		PSNP2|supranuclear palsy, progressive, 2|supranuclear palsy, progressive, 2; PSNP2	http://purl.obolibrary.org/obo/MONDO_0012278		UMLS:C1836148|MESH:C563717|http://identifiers.org/omim/609454
HGNC:15836	PROKR2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15836		
MONDO:0012279	congenital muscular dystrophy merosin-positive	biolink:Disease	mondo	DOID:0110638|GARD:0003855|OMIM:609456|MESH:C563716|UMLS:C1836133	gard_rare	muscular dystrophy, congenital, merosin-POSITIVE	http://purl.obolibrary.org/obo/MONDO_0012279	The congenital muscle dystrophies are currently classified according to the genetic defects. Historically, congenital muscular dystrophies were classified in two broad groups: Classic CMD (which included the Merosin-deficient CMD and the Merosin-positive CMD) and the CMD with central nervous system (CNS) abnormalities (Fukuyama CMD, muscle-eye-brain disease and Walker-Warburg syndrome). Therefore, merosin-positive congenital muscle dystrophy (CMD) is now considered an old term which refers to a group of diseases without structural brain abnormalities that are caused by a variety of gene mutations, resulting in protein defects that do not affect the merosin protein. Itusually has a milder phenotype than the merosin-negative CMD dystrophy group and includes, among others: Classic CMD without distinguishing features Rigid spine syndrome associated with mutations in the selenoprotein N1 gene (SEPN1) CMD with hyperextensible distal joints (Ullrich type) CMD with intellectual disability or sensory abnormalities. The pattern of muscle weakness and wasting in the patients within this group of congenital muscular dystrophy conditions is worse in the proximal upper limb-girdle and trunk muscles. Lower limb muscles may be mildly involved. Muscle biopsy shows a dystrophic pattern with normal staining for dystrophin, laminin alpha-2 of merosin and the sarcoglycans.	DOID:0110638|UMLS:C1836133|MESH:C563716|http://identifiers.org/omim/609456
MONDO:0012276	generalized epilepsy-paroxysmal dyskinesia syndrome	biolink:Disease	mondo	UMLS:C1836173|ICD10:G40.3|MESH:C563719|OMIM:609446|Orphanet:79137	ordo_disease	epilepsy, generalized, with paroxysmal dyskinesia|GEPD|PNKD3|paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy; PNKD3|generalized epilepsy and paroxysmal dyskinesia|paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy|generalized epilepsy and paroxysmal dyskinesia; GEPD	http://purl.obolibrary.org/obo/MONDO_0012276	Generalized epilepsy-paroxysmal dyskinesia syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant.	ORPHA:79137|UMLS:C1836173|MESH:C563719|http://identifiers.org/omim/609446
MONDO:0012277	myofibrillar myopathy 4	biolink:Disease	mondo	MESH:C563718|UMLS:C1836155|ICD10:G71.8|DOID:0080095|Orphanet:98912|GARD:0001886|OMIM:609452	ordo_disease	myofibrillar myopathy type 4|late-onset distal myopathy, Markesbery-Griggs type|myopathy, myofibrillar, 4; MFM4|myofibrillar myopathy (disease) caused by mutation in LDB3|MFM4|LDB3 myofibrillar myopathy (disease)|zaspopathy|ZASP-related myofibrillar myopathy|myopathy, myofibrillar, type 4|myopathy, myofibrillar, 4	http://purl.obolibrary.org/obo/MONDO_0012277	Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases.	DOID:0080095|ORPHA:98912|UMLS:C1836155|MESH:C563718|http://identifiers.org/omim/609452
HGNC:15832	BSCL2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15832		
CHEBI:75381	EC 1.11.1.* (peroxidases) inhibitor	biolink:ChemicalSubstance	mondo			inhibitors of peroxidases|inhibitor of peroxidases|EC 1.11.1 inhibitor|EC 1.11.1.* (peroxidases) inhibitors|EC 1.11.1.* inhibitors|EC 1.11.1.* (peroxidase) inhibitor|peroxidases inhibitors|EC 1.11.1.* (peroxidase) inhibitors|EC 1.11.1.* inhibitor|EC 1.11.1 inhibitors	http://purl.obolibrary.org/obo/CHEBI_75381	An EC 1.11.* (oxidoreductase acting on peroxide as donors) inhibitor that interferes with the action of any of the peroxidases (EC 1.11.1.*).	
MONDO:0012270	Tukel syndrome	biolink:Disease	mondo	GARD:0009814|OMIM:609428|UMLS:C1836217		Tukel syndrome|fibrosis of extraocular muscles, congenital, 4|fibrosis of extraocular muscles, congenital, with ulnar hand anomalies|congenital extraocular muscle fibrosis with ulnar hand anomalies|Cfeom-U	http://purl.obolibrary.org/obo/MONDO_0012270		UMLS:C1836217|http://identifiers.org/omim/609428
MONDO:0012271	mesoaxial synostotic syndactyly with phalangeal reduction	biolink:Disease	mondo	ICD10:Q70.2|OMIM:609432|ICD10:Q70.0|Orphanet:157801|SCTID:724170007|GARD:0010590|MESH:C563721|UMLS:C1836206	ordo_morphological_anomaly	syndactyly, mesoaxial synostotic, with phalangeal reduction; MSSD|syndactyly type 9|syndactyly, mesoaxial synostotic, with phalangeal reduction|syndactyly Malik-Percin type|syndactyly, type 9|syndactyly, Malik-Percin type|syndactyly mesoaxial synostotic with phalangeal reduction|MSSD	http://purl.obolibrary.org/obo/MONDO_0012271	Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.	SNOMEDCT:724170007|UMLS:C1836206|ORPHA:157801|MESH:C563721|http://identifiers.org/omim/609432
UBERON:5001463	manual digit 1 plus metapodial segment	biolink:AnatomicalEntity	mondo			manual digit 1 digitopodial subdivision|manual digit I plus metapodial segment|manual digit 1|manual digit 1 ray|manual digit 1 ( phalanges plus metapodial) plus soft tissue	http://purl.obolibrary.org/obo/UBERON_5001463	A subdivision of the autopod consisting of manual digit 1 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis.	
MONDO:0012274	acromesomelic dysplasia, Demirhan type	biolink:Disease	mondo	GARD:0010077|OMIM:609441|MESH:C537913	gard_rare	chondrodysplasia, acromesomelic, with or without genital anomalies|acromesomelic dysplasia, DEMIRHAN type; AMDD|acromesomelic dysplasia, Demirhan type|AMDD|chondrodysplasia acromesomelic with genital anomalies	http://purl.obolibrary.org/obo/MONDO_0012274		MESH:C537913|http://identifiers.org/omim/609441
MONDO:0012275	fetal valproate syndrome	biolink:Disease	mondo	MESH:C536525|GARD:0005447|DOID:0060471|UMLS:C0236026|ICD9:759.89|NCIT:C98930|OMIM:609442|ICD10:Q86.8|Orphanet:1906|MedDRA:10016524|SCTID:17231009	gard_rare|ordo_malformation_syndrome	fetal valproate syndrome|valproate embryopathy, susceptibility to|FVS|valproic acid embryopathy|susceptibility to valproate embryopathy|fetal valproic acid syndrome	http://purl.obolibrary.org/obo/MONDO_0012275	Fetal valproate syndrome (FVS), is an anticonvulsant drug-related embryofetopathy that can occur when a fetus is exposed to valproic acid (VPA), characterized by distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication).	MESH:C536525|ORPHA:1906|MEDDRA:10016524|DOID:0060471|SNOMEDCT:17231009|NCIT:C98930|http://identifiers.org/omim/609442|UMLS:C0236026
MONDO:0012272	intellectual disability, keratoconus, febrile seizures, and sinoatrial block	biolink:Disease	mondo	OMIM:609438|GARD:0010064|MESH:C537452|UMLS:C1836202	gard_rare	intellectual disability, keratoconus, febrile seizures, and sinoatrial block|mental retardation, keratoconus, febrile seizures, and sinoatrial block	http://purl.obolibrary.org/obo/MONDO_0012272		UMLS:C1836202|http://identifiers.org/omim/609438|MESH:C537452
MONDO:0012273	autosomal recessive nonsyndromic deafness 48	biolink:Disease	mondo	UMLS:C1836199|DOID:0110505|ICD10:H90.3|MESH:C563720|OMIM:609439		DFNB48|deafness, autosomal recessive 48; DFNB48|CIB2 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 48|deafness, autosomal recessive type 48|deafness, autosomal recessive 48|autosomal recessive deafness 48|autosomal recessive nonsyndromic deafness caused by mutation in CIB2	http://purl.obolibrary.org/obo/MONDO_0012273	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CIB2 gene.	DOID:0110505|UMLS:C1836199|MESH:C563720|http://identifiers.org/omim/609439
MONDO:0002732	lung benign neoplasm	biolink:Disease	mondo	DOID:3683|NCIT:C4454		tumor of the lung|benign tumor of lung|benign tumor of the lung|lung benign neoplasm|benign neoplasm of lung|benign lung tumor|benign neoplasm of the lung|benign lung neoplasm	http://purl.obolibrary.org/obo/MONDO_0002732	A non-metastasizing neoplasm that arises from the lung parenchyma or the bronchi. Representative examples include lung adenoma, lung hamartoma, and endobronchial lipoma.	DOID:3683|NCIT:C4454
MONDO:0002733		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002733		
MONDO:0002734	anal mucinous adenocarcinoma	biolink:Disease	mondo	NCIT:C5606|DOID:3691|UMLS:C1332272		anus mucinous adenocarcinoma|anal colloidal adenocarcinoma|mucinous adenocarcinoma of anus|anal mucinous adenocarcinoma|colloidal adenocarcinoma of anus|anal colloid adenocarcinoma|colloidal adenocarcinoma of the anus|mucinous adenocarcinoma of the anus|colloid adenocarcinoma of anus|colloid adenocarcinoma of the anus	http://purl.obolibrary.org/obo/MONDO_0002734	An anal adenocarcinoma characterized by the presence of mucoid stroma formation.	DOID:3691|NCIT:C5606|UMLS:C1332272
MONDO:0002735	anal canal adenocarcinoma (disease)	biolink:Disease	mondo	ICD10:C21.1|UMLS:C1332259|Orphanet:424016|NCIT:C7471|DOID:3692|HP:0030439|SCTID:764845008	ordo_disease	adenocarcinoma arising in the anal mucosa|adenocarcinoma arising in anal mucosa|anal canal adenocarcinoma|adenocarcinoma of anal canal|adenocarcinoma of the anal canal	http://purl.obolibrary.org/obo/MONDO_0002735	An anal adenocarcinoma arising from the anal canal mucosa. Morphologically, it resembles the adenocarcinoma which arises from the colorectal glandular epithelium. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding.	NCIT:C7471|DOID:3692|SNOMEDCT:764845008|ORPHA:424016|UMLS:C1332259
NCBITaxon:36362	Polyomavirus sp.	organism taxon	mondo	GC_ID:1		Polyomavirus|Polyomaviruses	http://purl.obolibrary.org/obo/NCBITaxon_36362		
MONDO:0002730	childhood kidney neoplasm	biolink:Disease	mondo	NCIT:C6563|DOID:3675|UMLS:C1333003		childhood renal tumor|pediatric kidney tumor|kidney neoplasm|pediatric kidney neoplasm|childhood renal neoplasm|kidney neoplasm of childhood|childhood kidney neoplasm|childhood kidney tumor|pediatric kidney neoplasm|pediatric renal tumor|pediatric renal neoplasm	http://purl.obolibrary.org/obo/MONDO_0002730	A kidney neoplasm that occurs during childhood.	DOID:3675|NCIT:C6563|UMLS:C1333003
MONDO:0002731	cerebral hemisphere cancer	biolink:Disease	mondo	COHD:4091490|DOID:368|ICD9:191.8|NCIT:C4577|SCTID:429033009		cerebrum cancer|malignant cerebral neoplasm|malignant neoplasm of cerebral hemisphere|neoplasm of cerebrum|telencephalon cancer|malignant tumor of cerebrum|tumor of cerebrum|malignant tumor of cerebral hemispheres|malignant cerebral hemisphere neoplasm|malignant tumor of the cerebral hemispheres|malignant tumor of the cerebrum|malignant telencephalon neoplasm|malignant cerebral tumor|cancer of telencephalon|malignant neoplasm of cerebrum|cancer of cerebral hemisphere|malignant neoplasm of cerebral hemispheres|malignant neoplasm of the cerebral hemispheres|malignant neoplasm of the cerebrum|malignant cerebral hemispheric neoplasm|cerebral cancer|malignant cerebral hemispheric tumor|malignant neoplasm of telencephalon	http://purl.obolibrary.org/obo/MONDO_0002731	A cancer that involves the cerebral hemisphere.	NCIT:C4577|SNOMEDCT:429033009|DOID:368
CHEBI:28965	dicarboxylic acid dianion	biolink:ChemicalSubstance	mondo			a dicarboxylate|dicarboxylate|dicarboxylates|dicarboxylic acid dianion|dicarboxylic acid dianions	http://purl.obolibrary.org/obo/CHEBI_28965	A carboxylic acid dianion obtained by deprotonation of both carboxy groups of any dicarboxylic acid.	
MONDO:0014718	developmental and epileptic encephalopathy, 34	biolink:Disease	mondo	UMLS:C4225257|OMIM:616645|DOID:0080460		DEE34|epileptic encephalopathy, early infantile, 34|SLC12A5 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, type 34|EIEE34|early infantile epileptic encephalopathy caused by mutation in SLC12A5|epileptic encephalopathy, early infantile, 34; EIEE34	http://purl.obolibrary.org/obo/MONDO_0014718	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC12A5 gene.	DOID:0080460|UMLS:C4225257|http://identifiers.org/omim/616645
MONDO:0014717	early-onset Lafora body disease	biolink:Disease	mondo	Orphanet:324290|UMLS:C4225258|OMIM:616640|SCTID:733082001|UMLS:C4518574|DOID:0111445|ICD10:G40.3	ordo_disease	epilepsy, progressive myoclonic, 10|epilepsy, progressive myoclonic, type 10|EPM10|epilepsy, progressive myoclonic, 10; EPM10	http://purl.obolibrary.org/obo/MONDO_0014717	Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades.	SNOMEDCT:733082001|UMLS:C4225258|DOID:0111445|http://identifiers.org/omim/616640|ORPHA:324290|UMLS:C4518574
MONDO:0014716	macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	biolink:Disease	mondo	UMLS:C4225259|EFO:0009050|Orphanet:457485|OMIM:616638	ordo_malformation_syndrome	SMITH-Kingsmore syndrome; SKS|macrocephaly, seizures, mental retardation, umbilical hernia, and Facial Dysmorphism|macrocephaly, seizures, intellectual disability, umbilical hernia, and Facial Dysmorphism|SKS|MINDS syndrome|Smith-Kingsmore syndrome	http://purl.obolibrary.org/obo/MONDO_0014716		UMLS:C4225259|ORPHA:457485|http://identifiers.org/omim/616638
GO:0097194	execution phase of apoptosis	biolink:OntologyClass	mondo			apoptosis|execution phase of apoptotic process	http://purl.obolibrary.org/obo/GO_0097194	A stage of the apoptotic process that starts with the controlled breakdown of the cell through the action of effector caspases or other effector molecules (e.g. cathepsins, calpains etc.). Key steps of the execution phase are rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.	
UBERON:0035322	right common iliac artery	biolink:AnatomicalEntity	mondo			trunk of right common iliac arterial tree	http://purl.obolibrary.org/obo/UBERON_0035322		
MONDO:0014715	primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	biolink:Disease	mondo	ICD10:D84.8|Orphanet:431166|UMLS:C4225260|OMIM:616636	ordo_disease	IMD44|immunodeficiency type 44|immunodeficiency 44; IMD44|immunodeficiency 44|primary immunodeficiency with post-MMR vaccine viral infection	http://purl.obolibrary.org/obo/MONDO_0014715	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis.	UMLS:C4225260|http://identifiers.org/omim/616636|ORPHA:431166
HGNC:15917	PLCB1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15917		
GO:0097190	apoptotic signaling pathway	biolink:OntologyClass	mondo			apoptotic signalling pathway|induction of apoptosis by extracellular signals	http://purl.obolibrary.org/obo/GO_0097190	A series of molecular signals which triggers the apoptotic death of a cell. The pathway starts with reception of a signal, and ends when the execution phase of apoptosis is triggered.	
MONDO:0014719	developmental and epileptic encephalopathy, 35	biolink:Disease	mondo	ICD10:G40.4|UMLS:C4225256|Orphanet:457375|DOID:0080458|OMIM:616647	ordo_disease	ITPA-related encephalopathy|epileptic encephalopathy, early infantile, 35|epileptic encephalopathy, early infantile, 35; EIEE35|epileptic encephalopathy, early infantile, type 35|EIEE35|DEE35	http://purl.obolibrary.org/obo/MONDO_0014719		DOID:0080458|UMLS:C4225256|http://identifiers.org/omim/616647|ORPHA:457375
MONDO:0014721	obsolete hereditary spherocytosis type 2	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0014721		
HGNC:15924	SALL4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15924		
HGNC:6235	KCNC3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6235		
MONDO:0014720	autosomal dominant optic atrophy plus syndrome	biolink:Disease	mondo	SCTID:715374003|GARD:0005243|ICD10:H47.2|UMLS:C4275164|DOID:0111340|Orphanet:1215|UMLS:C1852267	ordo_disease	dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy|optic atrophy - deafness- polyneuropathy - myopathy|Treft-Sanborn-Carey syndrome|optic atrophy-deafness-polyneuropathy-myopathy syndrome|optic atrophy type 8|DOA+	http://purl.obolibrary.org/obo/MONDO_0014720	Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness.	SNOMEDCT:715374003|UMLS:C1852267|UMLS:C4275164|UMLS:C1832466|ORPHA:1215|DOID:0111340
UBERON:0035316	prostatic capsule	biolink:AnatomicalEntity	mondo			capsule of prostate gland|capsule of prostate	http://purl.obolibrary.org/obo/UBERON_0035316	The membrane the surrounds the prostate gland.	
HGNC:15925	SAMHD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15925		
MONDO:0014725	spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	biolink:Disease	mondo	Orphanet:447997|UMLS:C4225254|ICD10:Q02|OMIM:616657	ordo_disease	spastic tetraplegia, thin corpus callosum, and progressive microcephaly|spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome|ASCT1 deficiency|spastic tetraplegia, thin corpus callosum, and progressive microcephaly; SPATCCM|SPATCCM	http://purl.obolibrary.org/obo/MONDO_0014725		UMLS:C4225254|ORPHA:447997|http://identifiers.org/omim/616657
HGNC:6239	KCND3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6239		
MONDO:0014724	Joubert syndrome 24	biolink:Disease	mondo	OMIM:616654|UMLS:C4084841|DOID:0110993		Joubert syndrome 24; JBTS24|TCTN2 Joubert syndrome|Joubert syndrome caused by mutation in TCTN2|Joubert syndrome type 24|Joubert syndrome 24|JBTS24	http://purl.obolibrary.org/obo/MONDO_0014724	Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN2 gene.	DOID:0110993|UMLS:C4084841|http://identifiers.org/omim/616654
GO:0120054	intestinal motility	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0120054	Contractions of the intestinal tract that include peristalsis (moving contents onward) and non-peristaltic movement (moving contents back and forth).	
MONDO:0014723	PMP22-RAI1 contiguous gene duplication syndrome	biolink:Disease	mondo	UMLS:C4225255|OMIM:616652|Orphanet:477817	ordo_malformation_syndrome	17p11.2p12 microduplication syndrome|trisomy 17p11.2-p12|YUAN-Harel-Lupski syndrome; YUHAL|trisomy 17p11.2p12|Yuan-Harel-Lupski syndrome|dup(17)(p11.2p12)|YUHAL	http://purl.obolibrary.org/obo/MONDO_0014723		ORPHA:477817|http://identifiers.org/omim/616652|UMLS:C4225255
MONDO:0014722	Roifman syndrome	biolink:Disease	mondo	ICD10:Q77.7|OMIM:616651|Orphanet:353298|UMLS:C1846059|GARD:0009163|MESH:C535866	gard_rare|ordo_disease	spondyloepiphseal dysplasia, retinal dystrophy and antibody deficiency|RFMN|ROIFMAN syndrome; RFMN|spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome|Roifman syndrome|spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency	http://purl.obolibrary.org/obo/MONDO_0014722		MESH:C535866|http://identifiers.org/omim/616651|ORPHA:353298|UMLS:C1846059
MONDO:0002729	rhabdoid tumor of the kidney	biolink:Disease	mondo	NCIT:C8715|UMLS:C0854917|DOID:3674|EFO:1000512		rhabdoid neoplasm of the kidney|MRTK|rhabdoid tumor of the kidney (RTK)|rhabdoid tumour of kidney|rhabdoid tumour of the kidney|renal rhabdoid tumor|rhabdoid tumor of the kidney|kidney rhabdoid cancer|malignant rhabdoid tumor of kidney|malignant rhabdoid tumor of the kidney|kidney rhabdoid tumor|renal rhabdoid neoplasm|rhabdoid neoplasm of kidney	http://purl.obolibrary.org/obo/MONDO_0002729	A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor.	NCIT:C8715|DOID:3674|UMLS:C0854917
NCBITaxon:121791	Nipah henipavirus	organism taxon	mondo	GC_ID:1		Nipah-virus|Nipah virus	http://purl.obolibrary.org/obo/NCBITaxon_121791		
FOODON:03311737	processed food product	biolink:OntologyClass	mondo	SUBSET_SIREN:F11737	"subset_siren"		http://purl.obolibrary.org/obo/FOODON_03311737		
MONDO:0002725	obsolete diffuse cutaneous mastocytosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002725		
NCBITaxon:106179	phagocytophilum group	organism taxon	mondo	GC_ID:11		phagocytophila group	http://purl.obolibrary.org/obo/NCBITaxon_106179		
HGNC:6231	KCNB1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6231		
MONDO:0002726	cutaneous solitary mastocytoma	biolink:Disease	mondo	NCIT:C7138|DOID:3666|MESH:D054705|ICDO:9740/1|EFO:1001844		solitary mastocytoma|solitary mastocytoma of skin|solitary mastocytoma of the skin|skin solitary mastocytoma	http://purl.obolibrary.org/obo/MONDO_0002726	A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology.	NCIT:C7138|MESH:D054705|DOID:3666
NCBITaxon:106178	canis group	organism taxon	mondo	GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_106178		
MONDO:0002727	olfactory nerve disease	biolink:Disease	mondo	UMLS:C0751937|ICD9:352.0|NCIT:C27210|DOID:367|ICD10:G52.0|COHD:435253|SCTID:68982002|MESH:D020431		disorder of 1st nerve|disorder of the 1st nerve|olfactory nerve disease or disorder|disease of olfactory nerve|disorder of olfactory [1st] nerve|disorder of olfactory nerve|olfactory nerve disorder|disorder of olfactory nerve|olfactory nerve disease|disease or disorder of olfactory nerve	http://purl.obolibrary.org/obo/MONDO_0002727	A disease involving the olfactory nerve.	SNOMEDCT:68982002|DOID:367|NCIT:C27210|UMLS:C0751937|MESH:D020431
HGNC:8896	PGK1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8896		
HGNC:6233	KCNC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6233		
MONDO:0002728	rhabdoid tumor	biolink:Disease	mondo	Orphanet:69077|ICDO:8963/3|EFO:0005701|ICD10:C49.9|UMLS:C0206743|DOID:3672|NCIT:C3808|GARD:0007572|MESH:D018335|ONCOTREE:MRT	ordo_disease	rhabdoid cancer|malignant rhabdoid tumour|rhabdoid sarcoma|rhabdoid tumor|malignant rhabdoid tumor	http://purl.obolibrary.org/obo/MONDO_0002728	An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor.	NCIT:C3808|ORPHA:69077|UMLS:C0206743|DOID:3672|MESH:D018335
MONDO:0002743	obsolete prostate colloid adenocarcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002743		
MONDO:0002744	fallopian tube mucinous adenocarcinoma	biolink:Disease	mondo	UMLS:C1517119|DOID:3704|NCIT:C40103		fallopian tube mucinous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002744	An extremely rare adenocarcinoma that arises from the fallopian tube. It is characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin. The cases that have been reported are predominantly in situ mucinous adenocarcinomas.	DOID:3704|UMLS:C1517119|NCIT:C40103
MONDO:0002745	fallopian tube mucinous tumor	biolink:Disease	mondo	NCIT:C40109|UMLS:C1517120|DOID:3705		fallopian tube mucinous tumor|fallopian tube mucinous neoplasm	http://purl.obolibrary.org/obo/MONDO_0002745	A rare borderline or malignant epithelial tumor of the fallopian tube characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract.	DOID:3705|UMLS:C1517120|NCIT:C40109
MONDO:0002746	fallopian tube adenocarcinoma	biolink:Disease	mondo	DOID:3706|NCIT:C6265|UMLS:C1333590		adenocarcinoma of fallopian tube|fallopian tube adenocarcinoma|adenocarcinoma of the fallopian tube	http://purl.obolibrary.org/obo/MONDO_0002746	A carcinoma that arises from glandular epithelial cells of the fallopian tube	DOID:3706|NCIT:C6265|UMLS:C1333590
MONDO:0002740	uterine ligament mucinous adenocarcinoma	biolink:Disease	mondo	NCIT:C40137|DOID:3699|UMLS:C1519869		uterine ligament mucinous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002740	A rare mucinous adenocarcinoma that arises from the uterine ligament.	DOID:3699|UMLS:C1519869|NCIT:C40137
MONDO:0002741	uterine ligament adenocarcinoma	biolink:Disease	mondo	NCIT:C40135|DOID:3700|UMLS:C1519866		uterine ligament adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002741	A rare adenocarcinoma that arises from the uterine ligament.	DOID:3700|UMLS:C1519866|NCIT:C40135
MONDO:0002742	cervical mucinous adenocarcinoma	biolink:Disease	mondo	NCIT:C36095|DOID:3701|UMLS:C1332919		cervical mucinous adenocarcinoma|uterine cervix mucinous adenocarcinoma|cervical mucinous adenocarcinoma, not otherwise specified|cervical mucinous adenocarcinoma, NOS	http://purl.obolibrary.org/obo/MONDO_0002742	A usually well to moderately differentiated cervical adenocarcinoma characterized by the presence of malignant glandular cells that contain significant amount of intracytoplasmic mucin.	DOID:3701|NCIT:C36095|UMLS:C1332919
CHEBI:28976	carbonic acid	biolink:ChemicalSubstance	mondo			Koehlensaeure|H2CO3|carbonic acid|Carbonic acid|[CO(OH)2]|Dihydrogen carbonate|dihydroxidooxidocarbon	http://purl.obolibrary.org/obo/CHEBI_28976		
MONDO:0014707	14q32 duplication syndrome	biolink:Disease	mondo	UMLS:C4225449|Orphanet:488280|OMIM:616604	ordo_disease	chromosome 14q32 DUPLICATION syndrome, 700-KB|myeloproliferative neoplasms, familial, susceptibility to|dup(14)q(32)|predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication|trisomy 14q32	http://purl.obolibrary.org/obo/MONDO_0014707	14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed.	UMLS:C4225449|ORPHA:488280|http://identifiers.org/omim/616604
UBERON:0011342	surface of mandible	biolink:AnatomicalEntity	mondo			mandibular surface	http://purl.obolibrary.org/obo/UBERON_0011342	A anatomical surface that is part of a mandible.	
MONDO:0014706	cutis laxa, autosomal dominant 3	biolink:Disease	mondo	ICD10:Q82.8|OMIM:616603|UMLS:C4225268|DOID:0070131		cutis laxa, autosomal dominant type 3|cutis laxa, autosomal dominant 3|autosomal dominant cutis laxa 3|cutis laxa, autosomal dominant 3; ADCL3|ADCL3	http://purl.obolibrary.org/obo/MONDO_0014706	An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has material basis in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.	UMLS:C4225268|http://identifiers.org/omim/616603|DOID:0070131
MONDO:0014705	craniosynostosis 6	biolink:Disease	mondo	UMLS:C4225269|OMIM:616602		craniosynostosis caused by mutation in ZIC1|craniosynostosis 6; CRS6|CRS6|craniosynostosis type 6|ZIC1 craniosynostosis|craniosynostosis 6	http://purl.obolibrary.org/obo/MONDO_0014705	Any craniosynostosis in which the cause of the disease is a mutation in the ZIC1 gene.	UMLS:C4225269|http://identifiers.org/omim/616602
MONDO:0014704	skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome	biolink:Disease	mondo	OMIM:616592|Orphanet:477831|UMLS:C4225270	ordo_malformation_syndrome	Kosaki overgrowth syndrome|Kosaki overgrowth syndrome; KOGS|KOGS|skeletal overgrowth with Facial Dysmorphism, hyperelastic skin, White matter lesions, and neurologic deterioration	http://purl.obolibrary.org/obo/MONDO_0014704		UMLS:C4225270|ORPHA:477831|http://identifiers.org/omim/616592
MONDO:0014709	Heimler syndrome 2	biolink:Disease	mondo	DOID:0080624|OMIM:616617|UMLS:C4225267		HMLR2|Heimler syndrome type 2|Heimler syndrome 2|peroxisome biogenesis disorder 4C|HEIMLER syndrome 2; HMLR2	http://purl.obolibrary.org/obo/MONDO_0014709		DOID:0080624|UMLS:C4225267|http://identifiers.org/omim/616617
MONDO:0014708	ring chromosome 14	biolink:Disease	mondo	ICD10:Q93.2|UMLS:CN233170|GARD:0006072|MESH:C535487|SCTID:702345009|Orphanet:1440|ICD9:758.89|OMIM:616606	gard_rare|ordo_malformation_syndrome	Ring chromosome type 14|chromosome 14 ring|RING chromosome 14 syndrome|Ring 14	http://purl.obolibrary.org/obo/MONDO_0014708	Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.	UMLS:C2930916|ORPHA:1440|MESH:C535487|http://identifiers.org/omim/616606|UMLS:CN233170|SNOMEDCT:702345009
MONDO:0014710	autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	biolink:Disease	mondo	UMLS:C4225266|OMIM:616622|Orphanet:477857	ordo_disease|predisposition	RORC autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency|immunodeficiency type 42|IMD42|immunodeficiency 42; IMD42|autosomal recessive primary immunodeficiency due to RORC mutation|immunodeficiency 42|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in RORC|autosomal recessive MSMD due to complete RORgamma receptor defiency	http://purl.obolibrary.org/obo/MONDO_0014710	Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the RORC gene.	UMLS:C4225266|ORPHA:477857|http://identifiers.org/omim/616622
MONDO:0014714	progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	biolink:Disease	mondo	OMIM:616632|UMLS:C4225261|Orphanet:477814	ordo_malformation_syndrome	seizures, cortical blindness, and microcephaly syndrome|seizures, cortical blindness, microcephaly syndrome|seizures, cortical blindness, and microcephaly syndrome; SCBMS|SCBMS	http://purl.obolibrary.org/obo/MONDO_0014714	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal.	UMLS:C4225261|ORPHA:477814|http://identifiers.org/omim/616632
MONDO:0014713	porokeratosis 9, multiple types	biolink:Disease	mondo	OMIM:616631|UMLS:C4225262		porokeratosis 9, multiple types; POROK9|POROK9|porokeratosis (disease) caused by mutation in FDPS|FDPS porokeratosis (disease)|porokeratosis 9, multiple types	http://purl.obolibrary.org/obo/MONDO_0014713	Any porokeratosis (disease) in which the cause of the disease is a mutation in the FDPS gene.	UMLS:C4225262|http://identifiers.org/omim/616631
MONDO:0014712	Senior-Loken syndrome 9	biolink:Disease	mondo	UMLS:C4225263|OMIM:616629		Senior-Loken syndrome type 9|Senior-Loken syndrome 9|Senior-Loken syndrome 9; SLSN9|Senior-Loken syndrome caused by mutation in TRAF3IP1|SLSN9|TRAF3IP1 Senior-Loken syndrome	http://purl.obolibrary.org/obo/MONDO_0014712	Any Senior-Loken syndrome in which the cause of the disease is a mutation in the TRAF3IP1 gene.	UMLS:C4225263|http://identifiers.org/omim/616629
MONDO:0014711	autosomal dominant Charcot-Marie-Tooth disease type 2W	biolink:Disease	mondo	UMLS:C4225265|Orphanet:488333|OMIM:616625|DOID:0110162	ordo_disease	Charcot-Marie-Tooth neuropathy, type 2W|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2W|Charcot-Marie-Tooth disease type 2 caused by mutation in HARS|Charcot-Marie-Tooth disease, axonal type 2W|autosomal dominant axonal Charcot-Marie-Tooth disease type 2W|HARS Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease, axonal, type 2w|Charcot-Marie-Tooth disease, axonal, type 2W; CMT2W|Charcot-Marie-Tooth neuropathy type 2W|autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation|CMT2W	http://purl.obolibrary.org/obo/MONDO_0014711	Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the HARS gene.	UMLS:C4225265|DOID:0110162|ORPHA:488333|http://identifiers.org/omim/616625
HGNC:6240	KCNE1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6240		
MONDO:0002736	ampulla of vater mucinous adenocarcinoma	biolink:Disease	mondo	UMLS:C1332248|NCIT:C27416|DOID:3693		ampulla of Vater mucinous adenocarcinoma|hepatopancreatic ampulla mucinous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002736	A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucoid stroma formation.	DOID:3693|NCIT:C27416|UMLS:C1332248
HGNC:6242	KCNE2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6242		
MONDO:0002737	acute sanguinous otitis media	biolink:Disease	mondo	COHD:378768|UMLS:C0395865|DOID:3696|SCTID:77478005|ICD9:381.03			http://purl.obolibrary.org/obo/MONDO_0002737	A acute transudative otitis media which involves bloody effusion.	SNOMEDCT:77478005|DOID:3696|UMLS:C0395865
HGNC:6243	KCNE3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6243		
MONDO:0002738	acute transudative otitis media	biolink:Disease	mondo	ICD9:381.0|DOID:3697|ICD9:381.00|UMLS:C0271432|SCTID:359609001|COHD:374948|UMLS:C2939185		acute transudative otitis media|acute secretory otitis media|acute non-suppurative otitis media|non-suppurative otitis media, acute|acute nonsuppurative otitis media|acute otitis media with effusion	http://purl.obolibrary.org/obo/MONDO_0002738	Acute form of non-suppurative otitis media.	DOID:3697|UMLS:C2939185|SNOMEDCT:359609001|UMLS:C0271432
MONDO:0002739	extrahepatic bile duct mucinous adenocarcinoma	biolink:Disease	mondo	DOID:3698|NCIT:C5846|UMLS:C0861856		colloid bile duct carcinoma|bile duct colloid carcinoma|colloidal adenocarcinoma of extrahepatic bile duct|mucinous carcinoma of the bile duct|colloid carcinoma of the bile duct|colloidal adenocarcinoma of the extrahepatic bile duct|mucinous carcinoma of bile duct|mucinous bile duct adenocarcinoma|colloid carcinoma of bile duct|colloid bile duct adenocarcinoma|colloid adenocarcinoma of the bile duct|colloid adenocarcinoma of bile duct|mucinous adenocarcinoma of the bile duct|mucinous adenocarcinoma of bile duct|bile duct colloidal carcinoma|colloidal bile duct carcinoma|mucinous adenocarcinoma of extrahepatic bile duct|mucinous adenocarcinoma of the extrahepatic bile duct|bile duct mucinous adenocarcinoma|colloid adenocarcinoma of extrahepatic bile duct|colloid extrahepatic bile duct adenocarcinoma|colloid adenocarcinoma of the extrahepatic bile duct|colloidal adenocarcinoma of the bile duct|mucinous extrahepatic bile duct adenocarcinoma|colloidal adenocarcinoma of bile duct|colloidal extrahepatic bile duct adenocarcinoma|colloidal carcinoma of the bile duct|colloidal bile duct adenocarcinoma|extrahepatic bile duct mucinous adenocarcinoma|colloidal carcinoma of bile duct	http://purl.obolibrary.org/obo/MONDO_0002739	An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor.	UMLS:C0861856|DOID:3698|NCIT:C5846
MONDO:0002710	infiltrating angiolipoma	biolink:Disease	mondo	NCIT:C7449|UMLS:C1305256|DOID:3615		angiolipoma, infiltrating (morphologic abnormality)|angiolipoma, infiltrating|infiltrating angiolipoma	http://purl.obolibrary.org/obo/MONDO_0002710	An uncommon lipoma characterized by prominent vascularity that invades the surrounding deep tissue.	NCIT:C7449|DOID:3615|UMLS:C1305256
MONDO:0002711	obsolete angiolipoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002711		
MONDO:0002712	epidural spinal canal angiolipoma	biolink:Disease	mondo	NCIT:C5424|UMLS:C1333416|DOID:3617		epidural space angiolipoma|angiolipoma of extradural spinal canal|angiolipoma of epidural space|angiolipoma of the extradural spinal canal|angiolipoma of the epidural spinal canal|angiolipoma of epidural spinal canal|extradural spinal canal angiolipoma	http://purl.obolibrary.org/obo/MONDO_0002712	An uncommon lipoma characterized by prominent vascularity that arises in the epidural space of the spinal canal.	DOID:3617|NCIT:C5424|UMLS:C1333416
MONDO:0002713	epidural spinal canal neoplasm	biolink:Disease	mondo	UMLS:C0014536|MESH:D015174|EFO:1000923|DOID:3618|NCIT:C3019		epidural space neoplasm|epidural tumor|neoplasm of the extradural spinal canal|epidural spinal canal neoplasm|extradural spinal neoplasms|neoplasm of extradural spinal canal|extradural spinal canal tumor|extradural neoplasm|neoplasm of the epidural spinal canal|extradural spinal canal neoplasm|epidural spinal neoplasms|tumor of epidural space|neoplasm of epidural spinal canal|epidural spinal canal tumors|epidural spinal canal tumor|epidural neoplasm|extradural spinal canal neoplasms|epidural spinal tumors|tumor of the extradural spinal canal|tumor of extradural spinal canal|extradural spinal tumors|tumor of the epidural spinal canal|extradural tumor|tumor of epidural spinal canal|neoplasm of epidural space|epidural space tumor	http://purl.obolibrary.org/obo/MONDO_0002713	A primary or metastatic neoplasm that involves the space between the vertebral periosteum and dura mater that surrounds the spinal cord.	UMLS:C0014536|DOID:3618|NCIT:C3019|MESH:D015174
UBERON:0011332	extrinsic tongue pre-muscle mass	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011332		
HGNC:6257	KCNJ11	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6257		
HGNC:15901	IFT52	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15901		
HGNC:6259	KCNJ13	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6259		
MONDO:0014703	Adams-Oliver syndrome 6	biolink:Disease	mondo	OMIM:616589|UMLS:C4225271		Adams-Oliver syndrome type 6|Adams-Oliver syndrome 6|DLL4 Adams-Oliver syndrome|Adams-Oliver syndrome caused by mutation in DLL4|Adams-Oliver syndrome 6; AOS6|AOS6	http://purl.obolibrary.org/obo/MONDO_0014703	Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DLL4 gene.	UMLS:C4225271|http://identifiers.org/omim/616589
MONDO:0014702	autosomal recessive complex spastic paraplegia type 9B	biolink:Disease	mondo	DOID:0110825|Orphanet:447760|UMLS:C4225272|ICD10:G11.4|OMIM:616586	ordo_disease	hereditary spastic paraplegia type 9B|spastic paraplegia 9B, autosomal recessive|hereditary spastic paraplegia 9B|autosomal recessive complex spastic paraplegia type 9B|spastic paraplegia 9B, autosomal recessive; SPG9B|ALDH18A1 autosomal recessive complex spastic paraplegia|autosomal recessive spastic paraplegia 9B|AR-SPG9B|autosomal recessive complex spastic paraplegia caused by mutation in ALDH18A1|SPG9B	http://purl.obolibrary.org/obo/MONDO_0014702	Any autosomal recessive complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene.	UMLS:C4225272|ORPHA:447760|DOID:0110825|http://identifiers.org/omim/616586
CHEBI:16998	D-phenylalanine	biolink:ChemicalSubstance	mondo			DPN|D-phenylalanine|D-PHENYLALANINE|D-Phenylalanine|(2R)-2-amino-3-phenylpropanoic acid|phenylalanine D-form|D-alpha-Amino-beta-phenylpropionic acid|D-Phe	http://purl.obolibrary.org/obo/CHEBI_16998	The D-enantiomer of phenylalanine.	
MONDO:0014701	spondyloepiphyseal dysplasia, Stanescu type	biolink:Disease	mondo	Orphanet:459051|OMIM:616583|UMLS:C4225273|ICD10:Q77.7	ordo_disease|clingen	spondyloepiphyseal dysplasia, Stanescu type; SEDSTN|spondyloepiphyseal dysplasia, Stanescu type|SEDSTN|SED, Stanescu type	http://purl.obolibrary.org/obo/MONDO_0014701		UMLS:C4225273|ORPHA:459051|http://identifiers.org/omim/616583
MONDO:0014700	neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation	biolink:Disease	mondo	UMLS:C4225274|OMIM:616580|UMLS:CN237748|Orphanet:453504	ordo_etiological_subtype	AU-Kline syndrome; AUKS|AU-Kline syndrome|AUKS|Au-Kline syndrome	http://purl.obolibrary.org/obo/MONDO_0014700		ORPHA:453504|UMLS:C4225274|UMLS:CN237748|http://identifiers.org/omim/616580
MONDO:0002707	breast mucinous carcinoma	biolink:Disease	mondo	ONCOTREE:IMMC|DOID:3610|SCTID:444712000|UMLS:C1334807|NCIT:C9131		invasive mucinous breast carcinoma|colloid carcinoma of breast|colloid carcinoma of the breast|mucinous carcinoma of breast|mucinous carcinoma of the breast|infiltrating colloid breast carcinoma|mucinous breast cancer|mucinous breast carcinoma|breast mucinous carcinoma|colloid breast carcinoma|infiltrating mucinous breast carcinoma|invasive colloid breast carcinoma|breast invasive mixed mucinous carcinoma	http://purl.obolibrary.org/obo/MONDO_0002707	An invasive adenocarcinoma of the breast characterized by the presence of islands of small and uniform cells, surrounded by large amounts of mucin. Pure mucinous breast carcinomas generally have a favorable prognosis.	UMLS:C1334807|NCIT:C9131|SNOMEDCT:444712000|DOID:3610
MONDO:0002708	retinitis	biolink:Disease	mondo	MESH:D012173|DOID:3612|SCTID:399463004|UMLS:C0035333|ICD10:H30.9|NCIT:C115993		inflammation of retina|retina inflammation	http://purl.obolibrary.org/obo/MONDO_0002708	Inflammation of the retina.	MESH:D012173|DOID:3612|NCIT:C115993|UMLS:C0035333|SNOMEDCT:399463004
HP:0011514	Abnormality of binocular vision	biolink:PhenotypicFeature	mondo	UMLS:C4023320			http://purl.obolibrary.org/obo/HP_0011514	An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth.	
HGNC:6250	KCNH1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6250		
MONDO:0002709	obsolete Kallmann syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002709		
HGNC:6251	KCNH2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6251		
MONDO:0002703	appendix mucinous cystadenocarcinoma	biolink:Disease	mondo	UMLS:C1096639|NCIT:C5511|DOID:3607		appendix colloid cystadenocarcinoma|colloidal cystadenocarcinoma of appendix|appendiceal colloid cystadenocarcinoma|mucinous cystadenocarcinoma of appendix|vermiform appendix mucinous cystadenocarcinoma|colloid cystadenocarcinoma of appendix|mucinous cystadenocarcinoma of the appendix|colloid cystadenocarcinoma of the appendix|colloidal cystadenocarcinoma of the appendix|appendiceal mucinous cystadenocarcinoma|appendix colloidal cystadenocarcinoma|appendix mucinous cystadenocarcinoma|appendiceal colloidal cystadenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002703	An adenocarcinoma arising from the appendix, characterized by the presence of mucinous stroma formation and cystic structures.	UMLS:C1096639|DOID:3607|NCIT:C5511
MONDO:0002704	obsolete appendix adenocarcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002704		
HGNC:6255	KCNJ1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6255		
MONDO:0002705	breast mucinous cystadenocarcinoma	biolink:Disease	mondo	UMLS:C1511318|NCIT:C40354|DOID:3609		breast mucinous cystadenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002705	An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are identified.	NCIT:C40354|UMLS:C1511318|DOID:3609
MONDO:0002706	cervix endometriosis	biolink:Disease	mondo	DOID:361|SCTID:61640006|NCIT:C27623|UMLS:C0269107		uterine cervix endometriosis (disease)|cervical endometriosis|endometriosis of cervix|endometriosis (disease) of uterine cervix	http://purl.obolibrary.org/obo/MONDO_0002706	Endometriosis that affects the cervix. Most patients are asymptomatic. Some patients may present with recurrent minimal uterine bleeding.	DOID:361|SNOMEDCT:61640006|NCIT:C27623|UMLS:C0269107
HGNC:6256	KCNJ10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6256		
MONDO:0002721	necrosis of pituitary	biolink:Disease	mondo	UMLS:C0271558|NCIT:C27066|DOID:3646|SCTID:59572000		pituitary gland Necrosis|pituitary necrosis	http://purl.obolibrary.org/obo/MONDO_0002721	Ischemic or hemorrhagic necrosis of the pituitary gland.	DOID:3646|NCIT:C27066|UMLS:C0271558|SNOMEDCT:59572000
MONDO:0002722	olfactory nerve neoplasm	biolink:Disease	mondo	ICD9:239.7|NCIT:C5121|UMLS:C0346319|DOID:366|SCTID:126967000|DOID:8256		olfactory nerve neoplasms|neoplasm of the first cranial nerve|neoplasm of first cranial nerve|olfactory neural tumor|first cranial nerve tumor|neoplasm of olfactory nerve|olfactory nerve neoplasm|tumor of the olfactory nerve|olfactory nerve tumor|first cranial nerve neoplasms|tumor of the first cranial nerve|neoplasms, cranial nerve I|olfactory nerve neoplasm (disease)|tumor of first cranial nerve|neoplasm of the olfactory nerve|neoplasms, olfactory nerve|cranial nerve I neoplasms|tumor of olfactory nerve|first cranial nerve neoplasm|olfactory neural neoplasm	http://purl.obolibrary.org/obo/MONDO_0002722	Benign and malignant neoplasms which arise from or metastasize to the olfactory or first cranial nerve. Clinical features may include facial pain and impairments of taste or smell.	DOID:366|NCIT:C5121|DOID:8256|UMLS:C0346319|SNOMEDCT:126967000
MONDO:0002723	obsolete cutaneous mastocytosis (disease)	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002723		
MONDO:0002724	mast cell neoplasm	biolink:Disease	mondo	SCTID:414653009|DOID:3664|ICD9:238.79|NCIT:C9295|ICD10:D47.0|EFO:0009000|UMLS:C0334664		tumor of Mast cells|tumor of the Mast cells|Mast cell tumor|mast cell neoplasm|mast cell tumor|neoplasm of Mast cells|neoplasm of the Mast cells|Mast cell proliferative disease|mastocytoma	http://purl.obolibrary.org/obo/MONDO_0002724	A heterogeneous group of disorders characterized by the abnormal growth and accumulation of mast cells in one or more organ systems. Recent data suggest that most variants of mast cell neoplasms are clonal disorders. (WHO, 2001)	NCIT:C9295|SNOMEDCT:414653009|DOID:3664|UMLS:C0334664
NCBITaxon:36330	Plasmodium ovale	organism taxon	mondo	PMID:20380562|GC_ID:1		malaria parasite P. ovale	http://purl.obolibrary.org/obo/NCBITaxon_36330		
UBERON:0001997	olfactory epithelium	biolink:AnatomicalEntity	mondo			nasal cavity olfactory epithelium|MOE|sensory olfactory epithelium|olfactory sensory epithelium|nasal sensory epithelium|nasal epithelium|olfactory membrane|pseudostratified main olfactory epithelium|main olfactory epithelium	http://purl.obolibrary.org/obo/UBERON_0001997	A sensory epithelium inside the nasal cavity that is responsible for detecting odors[WP].	
MONDO:0002720	sella turcica neoplasm	biolink:Disease	mondo	DOID:3643|NCIT:C4944|ONCOTREE:SELT|UMLS:C0748616		tumor of sella turcica|selt|neoplasm of the sella turcica|neoplasm of sella turcica|sellar neoplasm|sella turcica neoplasm|sella turcica tumor|sellar tumor|tumor of the sella turcica	http://purl.obolibrary.org/obo/MONDO_0002720	A benign or malignant neoplasm that occurs in sella turcica. Representative examples include craniopharyngioma and pituitary gland adenoma.	UMLS:C0748616|DOID:3643|NCIT:C4944
GO:0097186	amelogenesis	biolink:OntologyClass	mondo			enamel development	http://purl.obolibrary.org/obo/GO_0097186	The process whose specific outcome is the formation of tooth enamel, occurring in two stages: secretory stage and maturation stage.	
HGNC:15911	NOP56	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15911		
MONDO:0002718	central nervous system teratoma	biolink:Disease	mondo	Orphanet:252018|UMLS:C1332895|NCIT:C5441|DOID:3640	ordo_clinical_subtype	teratoma of the central nervous system|CNS teratoma|teratoma of the CNS|teratoma of central nervous system|teratoma of CNS|central nervous system teratoma	http://purl.obolibrary.org/obo/MONDO_0002718	A mature or immature teratoma that affects the central nervous system.	UMLS:C1332895|ORPHA:252018|DOID:3640|NCIT:C5441
MONDO:0002719	conus medullaris neoplasm	biolink:Disease	mondo	NCIT:C5443|DOID:3641|UMLS:C1333153		tumor of the conus medullaris|conus medullaris neoplasm|neoplasm of the conus medullaris|conus medullaris neoplasm (disease)|tumor of conus medullaris|neoplasm of conus medullaris|conus medullaris tumor	http://purl.obolibrary.org/obo/MONDO_0002719	A neoplasm (disease) that involves the conus medullaris.	UMLS:C1333153|DOID:3641|NCIT:C5443
CHEBI:14321	glutamate(1-)	biolink:ChemicalSubstance	mondo			glutamate|glutamic acid monoanion|glutamate(1-)|2-ammoniopentanedioate|hydrogen glutamate	http://purl.obolibrary.org/obo/CHEBI_14321	An alpha-amino-acid anion that is the conjugate base of glutamic acid, having anionic carboxy groups and a cationic amino group	
HGNC:6263	KCNJ2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6263		
MONDO:0002714	central nervous system cancer	biolink:Disease	mondo	ICD9:239.7|NCIT:C4627|DOID:3620|EFO:0000326|SCTID:126951006|ICD10:C72.9|MESH:D016543		malignant neoplasm of central nervous system, NOS|malignant tumor of the CNS|central nervous system tumor|cancer of the CNS|cancer of the central nervous system|malignant central nervous system neoplasm|malignant CNS neoplasm|central nervous system cancer|malignant tumor of central nervous system|malignant tumor of CNS|cancer of CNS|central nervous system tumors|malignant tumor of the central nervous system|malignant neoplasm of central nervous system|neoplasm of central nervous system|malignant neoplasm of the CNS|CNS neoplasm|malignant central nervous system tumor|malignant neoplasm of the central nervous system|CNS cancer|malignant neoplasm of CNS|central nervous system neoplasms, malignant|CNS neoplasms, malignant|malignant CNS tumor|malignant CNS neoplasms|cancer of central nervous system|CNS malignant neoplasms	http://purl.obolibrary.org/obo/MONDO_0002714	A malignant neoplasm involving the central nervous system	SNOMEDCT:126951006|DOID:3620|NCIT:C4627|MESH:D016543
MONDO:0002715	uterine cancer	biolink:Disease	mondo	SCTID:371973000|ICD9:179|NCIT:C3552|COHD:197230|MESH:D014594|ICD10:C55|DOID:363		uterine cancer, NOS|neoplasm of uterus|malignant uterus neoplasm|malignant neoplasm of the uterus|uterine tumor|malignant uterine tumor|cancer of uterus|CA - cancer of uterus|malignant uterine neoplasm|tumour of uterus|cancer of the uterus|malignant tumor of uterus|malignant tumor of the uterus|uterus cancer|malignant neoplasm of uterus|uterus neoplasm|uterine cancer	http://purl.obolibrary.org/obo/MONDO_0002715	Primary or metastatic malignant neoplasm involving the uterine corpus and/or the cervix.	MESH:D014594|DOID:363|SNOMEDCT:371973000|NCIT:C3552
MONDO:0002716	childhood spinal cord tumor	biolink:Disease	mondo	DOID:3637|UMLS:C1134515|NCIT:C9234		pediatric spinal cord neoplasm|childhood spinal cord neoplasm|spinal cord neoplasm of childhood|pediatric spinal cord neoplasm	http://purl.obolibrary.org/obo/MONDO_0002716	A benign or malignant neoplasm affecting the spinal cord during childhood.	UMLS:C1134515|NCIT:C9234|DOID:3637
HGNC:6266	KCNJ5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6266		
MONDO:0002717	spinal cord intramedullary teratoma	biolink:Disease	mondo	NCIT:C5428|UMLS:C1334259|DOID:3639		intramedullary spinal cord teratoma|intramedullary teratoma of the spinal cord|intramedullary teratoma of spinal cord|intramedullary spinal teratoma	http://purl.obolibrary.org/obo/MONDO_0002717		DOID:3639|NCIT:C5428|UMLS:C1334259
HGNC:6267	KCNJ6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6267		
MONDO:0002776	external ear disease	biolink:Disease	mondo	ICD10:H60-H62|COHD:133859|ICD9:744.47|UMLS:C0155388|ICD9:380|NCIT:C26972|ICD10:H60.H62|ICD10:H61.9|SCTID:49130001|ICD9:380.9|DOID:379		external ear disorder|external ear disease or disorder|preauricular cyst|preauricular sinus or fistula NOS (disorder)|disorder of external ear|preauricular cyst (disorder)|preauricular sinus or fistula|disease or disorder of external ear|disease of external ear|disorder of external ear|external ear disease|preauricular sinus and fistula (disorder)|preauricular sinus and fistula	http://purl.obolibrary.org/obo/MONDO_0002776	A disease involving the external ear.	NCIT:C26972|DOID:379|SNOMEDCT:49130001|UMLS:C0155388
MONDO:0000113	obsolete cerebellar ataxia, mental retardation, and dysequilibrium syndrome	biolink:Disease	mondo	DC:0000490			http://purl.obolibrary.org/obo/MONDO_0000113		
MONDO:0000112	obsolete cardioencephalomyopathy, fatal infantile	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000112		
MONDO:0002777	obsolete pleural empyema	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002777		
MONDO:0002778	epidural spinal canal meningioma	biolink:Disease	mondo	UMLS:C1333417|NCIT:C5310|DOID:3809		meningioma of the epidural spinal canal|meningioma of epidural spinal canal	http://purl.obolibrary.org/obo/MONDO_0002778	A meningioma that arises in the epidural spinal canal space.	NCIT:C5310|UMLS:C1333417|DOID:3809
MONDO:0000111	camptodactyly syndrome, Guadalajara	biolink:Disease	mondo	DC:0000486			http://purl.obolibrary.org/obo/MONDO_0000111		
MONDO:0002779	central nervous system chondroma	biolink:Disease	mondo	NCIT:C7001|DOID:3813|UMLS:C1333019		osteochondroma of the CNS|CNS chondroma|osteochondroma of central nervous system|osteochondroma of CNS|osteochondroma of the central nervous system|chondroma of the CNS|chondroma of central nervous system|chondroma of the central nervous system|central nervous system chondroma|central nervous system osteochondroma|CNS osteochondroma|chondroma of CNS	http://purl.obolibrary.org/obo/MONDO_0002779	An extraskeletal chondroma usually arising from the dura.	UMLS:C1333019|NCIT:C7001|DOID:3813
MONDO:0000110	bifid nose	biolink:Disease	mondo	ICD10:Q30.2|DC:0000479|GARD:0000884|MESH:C535441|Orphanet:2695|UMLS:CN227089	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0000110	Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated.	UMLS:CN227089|ORPHA:2695|MESH:C535441|UMLS:C0221363
CHEBI:77932	tetracycline zwitterion	biolink:ChemicalSubstance	mondo			tetracycline|(1S,4aS,11S,11aS,12aS)-3-carbamoyl-1-(dimethylazaniumyl)-4a,5,7,11-tetrahydroxy-11-methyl-4,6-dioxo-1,4,4a,6,11,11a,12,12a-octahydrotetracen-2-olate	http://purl.obolibrary.org/obo/CHEBI_77932	A zwitterion obtained by transfer of a proton from the 2-hydroxy group to the 1-amino group of tetracycline. It is the major microspecies at pH 7.3 (according to Marvin v 6.2.0.).	
MONDO:0002772	intraventricular meningioma	biolink:Disease	mondo	NCIT:C5273|UMLS:C1334271|DOID:3772		meningioma (disease) of brain ventricle|brain ventricle meningioma (disease)	http://purl.obolibrary.org/obo/MONDO_0002772	A meningioma that affects the ventricles of the brain.	UMLS:C1334271|DOID:3772|NCIT:C5273
MONDO:0000117	obsolete diarrhea, congenital	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000117		
MONDO:0000116	obsolete cortical dysplasia, complex, with other brain malformations	biolink:Disease	mondo	DC:0000498			http://purl.obolibrary.org/obo/MONDO_0000116		
MONDO:0002773		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002773		
CHEBI:77938	barbiturate(1-)	biolink:ChemicalSubstance	mondo			2,4,6-trioxohexahydropyrimidin-5-ide|barbiturate	http://purl.obolibrary.org/obo/CHEBI_77938	An organic anion obtained by removal of one of the methylene protons from barbituric acid. It is the major microspecies at pH 7.3 (according to Marvin v 6.2.0.).	
MONDO:0000115	Chiari malformation	biolink:Disease	mondo	MESH:D001139|SCTID:253184003|NCIT:C84570|DC:0000492		Arnold-Chiari malformation|(Arnold) Chiari malformation|Chiari malformation	http://purl.obolibrary.org/obo/MONDO_0000115	A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus.	NCIT:C84570|SNOMEDCT:253184003|MESH:D001139
MONDO:0002774	obsolete chordoid glioma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002774		
MONDO:0002775	anovulation	biolink:Disease	mondo	UMLS:C0003128|MESH:D000858|DOID:3781			http://purl.obolibrary.org/obo/MONDO_0002775	The absence of ovulation.	UMLS:C0003128|NCIT:C34388|MESH:D000858|DOID:3781
UBERON:0011390	pudendal nerve	biolink:AnatomicalEntity	mondo			internal pudendal nerve|pudenal nerve|pudendal	http://purl.obolibrary.org/obo/UBERON_0011390	The pudendal nerve is a somatic nerve in the pelvic region that innervates the external genitalia of both sexes, as well as sphincters for the bladder and the rectum. It originates in Onuf's nucleus in the sacral region of the spinal cord.	
MONDO:0000114	cerebelloparenchymal disorder	biolink:Disease	mondo	DC:0000491			http://purl.obolibrary.org/obo/MONDO_0000114		
MONDO:0002770	vaginal discharge	biolink:Disease	mondo	MESH:D019522|DOID:3767|NCIT:C50795		Discharge, vaginal	http://purl.obolibrary.org/obo/MONDO_0002770	Normal or abnormal secretions from the vagina. Mucus produced by the cervical glands is discharged from the vagina naturally, especially during the childbearing years. Causes of abnormal vaginal discharge include infectious agents (e.g., Neisseria gonorrhea, Chlamydia trachomatis, Trichomonas, and Candida albicans), the presence of foreign bodies, and cervical or vaginal cancer.	NCIT:C50795|MESH:D019522|DOID:3767
MONDO:0014759	intellectual disability, autosomal recessive 51	biolink:Disease	mondo	UMLS:C4225220|OMIM:616739		mental retardation, autosomal recessive 51; MRT51|mental retardation, autosomal recessive type 51|autosomal recessive non-syndromic intellectual disability caused by mutation in HNMT|MRT51|intellectual disability, autosomal recessive 51; MRT51|intellectual disability, autosomal recessive 51|HNMT autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive 51|intellectual disability, autosomal recessive type 51|intellectual disability, autosomal recessive 51; MRT51	http://purl.obolibrary.org/obo/MONDO_0014759	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the HNMT gene.	http://identifiers.org/omim/616739|UMLS:C4225220
MONDO:0002771	pulmonary fibrosis	biolink:Disease	mondo	UMLS:C0034069|MESH:D011658|DOID:3770|NCIT:C26869|SCTID:51615001		fibrosis of lung|pulmonary interstitial fibrosis	http://purl.obolibrary.org/obo/MONDO_0002771	Chronic progressive interstitial lung disorder characterized by the replacement of the lung tissue by connective tissue, leading to progressive dyspnea, respiratory failure, or right heart failure. Causes include chronic inflammatory processes, exposure to environmental irritants, radiation therapy, autoimmune disorders, certain drugs, or it may be idiopathic (no identifiable cause).	NCIT:C26869|MESH:D011658|DOID:3770|UMLS:C0034069|SNOMEDCT:51615001
MONDO:0014765	woolly hair, autosomal recessive 3	biolink:Disease	mondo	OMIM:616760|DOID:0111574|UMLS:C4225214		woolly hair, autosomal recessive type 3|ARWH3|woolly hair, autosomal recessive 3, with hypotrichosis|KRT25 woolly hair (disease)|woolly hair, autosomal recessive 3|woolly hair (disease) caused by mutation in KRT25|woolly hair, autosomal recessive 3; ARWH3	http://purl.obolibrary.org/obo/MONDO_0014765	Any woolly hair in which the cause of the disease is a mutation in the KRT25 gene.	http://identifiers.org/omim/616760|UMLS:C4225214|DOID:0111574
MONDO:0012102	GLC1K	biolink:Disease	mondo	OMIM:608696|MESH:C563873|UMLS:C1837527		glaucoma 1, open angle, K; GLC1K|glaucoma 1, open angle, K|JOAG1K|glaucoma, primary open angle, juvenile-onset, 3|GLC1K	http://purl.obolibrary.org/obo/MONDO_0012102		MESH:C563873|http://identifiers.org/omim/608696|UMLS:C1837527
MONDO:0012103	spinocerebellar ataxia type 25	biolink:Disease	mondo	OMIM:608703|Orphanet:101111|ICD10:G11.8|GARD:0009996|SCTID:718770005|MESH:C537202|DOID:0050974|UMLS:C1837518	ordo_disease	spinocerebellar ataxia 25; SCA25|SCA25|spinocerebellar ataxia 25	http://purl.obolibrary.org/obo/MONDO_0012103	Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy.	ORPHA:101111|SNOMEDCT:718770005|MESH:C537202|http://identifiers.org/omim/608703|DOID:0050974|UMLS:C1837518
MONDO:0014764	spastic paraplegia-severe developmental delay-epilepsy syndrome	biolink:Disease	mondo	Orphanet:464282|OMIM:616756|UMLS:C4225215	ordo_disease	SPPRS syndrome|spastic paraplegia and psychomotor retardation with or without seizures; SPPRS|spastic paraplegia and psychomotor retardation with or without seizures|SPPRS|spastic paraplegia-psychomotor retardation-seizures syndrome	http://purl.obolibrary.org/obo/MONDO_0014764	Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.	http://identifiers.org/omim/616756|UMLS:C4225215|ORPHA:464282
MONDO:0012100	major depressive disorder 2	biolink:Disease	mondo	UMLS:C1837529|MESH:C563875|OMIM:608691		major depressive disorder type 2|MDD2|unipolar depression 2|major depressive disorder 2	http://purl.obolibrary.org/obo/MONDO_0012100		http://identifiers.org/omim/608691|UMLS:C1837529|MESH:C563875
MONDO:0014763	Bombay phenotype	biolink:Disease	mondo	OMIM:616754		Reunion variant|para-Bombay phenotype	http://purl.obolibrary.org/obo/MONDO_0014763		http://identifiers.org/omim/616754
MONDO:0014762	heterotaxy, visceral, 7, autosomal	biolink:Disease	mondo	UMLS:C4225217|OMIM:616749		heterotaxy, visceral, 7, autosomal|visceral heterotaxy caused by mutation in MMP21|HTX7|heterotaxy, visceral, 7, autosomal; HTX7|HTX7|MMP21 visceral heterotaxy	http://purl.obolibrary.org/obo/MONDO_0014762	Any visceral heterotaxy in which the cause of the disease is a mutation in the MMP21 gene.	UMLS:C4225217|http://identifiers.org/omim/616749
MONDO:0012101	GLC1J	biolink:Disease	mondo	OMIM:608695|MESH:C563874|UMLS:C1837528		JOAG2|glaucoma 1, open angle, J; GLC1J|glaucoma 1, open angle, J|JOAG1J|glaucoma, primary open angle, juvenile-onset, 2|GLC1J	http://purl.obolibrary.org/obo/MONDO_0012101		http://identifiers.org/omim/608695|UMLS:C1837528|MESH:C563874
MONDO:0012106	microcephaly 5, primary, autosomal recessive	biolink:Disease	mondo	DOID:0070280|UMLS:C1837501|MESH:C563871|OMIM:608716		ASPM autosomal recessive primary microcephaly|microcephaly 5, primary, autosomal recessive|autosomal recessive primary microcephaly caused by mutation in ASPM|microcephaly 5, primary, autosomal recessive; MCPH5|MCPH5	http://purl.obolibrary.org/obo/MONDO_0012106	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the ASPM gene.	MESH:C563871|DOID:0070280|http://identifiers.org/omim/608716|UMLS:C1837501
MONDO:0014769	inherited oocyte maturation defect	biolink:Disease	mondo	UMLS:CN238505|OMIMPS:615774	prototype_pattern	OOMD|oocyte maturation defect	http://purl.obolibrary.org/obo/MONDO_0014769		UMLS:CN238505
MONDO:0012107	neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia	biolink:Disease	mondo	OMIM:608720|UMLS:C1837492|MESH:C563870		neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia	http://purl.obolibrary.org/obo/MONDO_0012107		MESH:C563870|http://identifiers.org/omim/608720|UMLS:C1837492
MONDO:0014768	cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	biolink:Disease	mondo	DOID:0111036|UMLS:C4225211|OMIM:616779|ICD10:F01.1		CADASIL 2|CADASIL caused by mutation in HTRA1|CADASIL2|cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2|CADASIL type 2|autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2|HTRA1 CADASIL|cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2; CADASIL2	http://purl.obolibrary.org/obo/MONDO_0014768	Any CADASIL in which the cause of the disease is a mutation in the HTRA1 gene.	http://identifiers.org/omim/616779|DOID:0111036|UMLS:C4225211
MONDO:0012104	acquired partial lipodystrophy	biolink:Disease	mondo	Orphanet:79087|MESH:C562448|OMIM:608709|GARD:0010509|ICD10:E88.1|NCIT:C129723|UMLS:C0220989|SCTID:75659004	ordo_disease	partial acquired lipodystrophy|Apld, susceptibility to|lipodystrophy partial acquired|lipodystrophy cephalothoracic type|lipodystrophy, cephalothoracic type|Barraquer-Simons syndrome|APLD|susceptibility to partial acquired lipodystrophy|progressive cephalothoracic lipodystrophy|lipodystrophy, partial, progressive|lipodystrophy, partial, acquired, susceptibility to; APLD|lipodystrophy, partial, acquired, susceptibility to|acquired partial lipodystrophy|lipodystophy partial progressive	http://purl.obolibrary.org/obo/MONDO_0012104	Acquired partial lipodystrophy, or Barraquer-Simons syndrome, is characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.	MESH:C562448|UMLS:C0220989|http://identifiers.org/omim/608709|NCIT:C129723|SNOMEDCT:75659004|ORPHA:79087
MONDO:0014767	Seckel syndrome 9	biolink:Disease	mondo	OMIM:616777|DOID:0070005|UMLS:C4225212		Seckel syndrome 9|TRAIP Seckel syndrome|Seckel syndrome type 9|Seckel syndrome 9; SCKL9|Seckel syndrome caused by mutation in TRAIP|SCKL9	http://purl.obolibrary.org/obo/MONDO_0014767	Any Seckel syndrome in which the cause of the disease is a mutation in the TRAIP gene.	http://identifiers.org/omim/616777|DOID:0070005|UMLS:C4225212
NCBITaxon:121759	Paracoccidioides brasiliensis	organism taxon	mondo	GC_ID:1		Loboa loboi	http://purl.obolibrary.org/obo/NCBITaxon_121759		
MONDO:0012105	granulomatosis with polyangiitis	biolink:Disease	mondo	COHD:313223|SCTID:195353004|EFO:0005297|ICD10:M31.30|MESH:D014890|MedDRA:10047888|OMIM:608710|ICD10:M31.3|UMLS:C3495801|DOID:12132|NCIT:C123111|ICD9:446.4|GARD:0007880|Orphanet:900|UMLS:C4050407	ordo_disease	granulomatosis with polyangiitis|GPA|pauci-immune glomerulonephritis associated with granulomatosis with polyangiitis|Wegener's granulomatosis|Midline granulomatosis|Wg|Wegener granulomatosis|ANCA-associated vasculitis|necrotizing respiratory granulomatosis|granulomatosis - Wegener's|Wegener's syndrome	http://purl.obolibrary.org/obo/MONDO_0012105	A small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis.	NCIT:C123111|UMLS:C0043092|UMLS:C4050407|MESH:D014890|http://identifiers.org/omim/608710|UMLS:C3495801|MEDDRA:10047888|ORPHA:900|DOID:12132|SNOMEDCT:195353004
MONDO:0014766	leukodystrophy and acquired microcephaly with or without dystonia;	biolink:Disease	mondo	UMLS:C4225213|OMIM:616763		LDAMD|leukodystrophy and acquired microcephaly with or without dystonia; LDAMD|leukodystrophy and acquired microcephaly with or without dystonia	http://purl.obolibrary.org/obo/MONDO_0014766		http://identifiers.org/omim/616763|UMLS:C4225213
MONDO:0000109	obsolete basal ganglia calcification, idiopathic	biolink:Disease	mondo	DC:0000478			http://purl.obolibrary.org/obo/MONDO_0000109		
MONDO:0000108	bacteremia, susceptibility	biolink:Disease	mondo	UMLS:C3280646|DC:0000476	predisposition		http://purl.obolibrary.org/obo/MONDO_0000108		UMLS:C3280646
MONDO:0000107	auriculocondylar syndrome	biolink:Disease	mondo	GARD:0009798|OMIMPS:602483|ICD10:Q75.8|SCTID:702443003|MESH:C538270|UMLS:CN160484|DC:0000475|UMLS:C1865295|Orphanet:137888	ordo_malformation_syndrome	auriculo-condylar syndrome|question mark ear|ears prominent and constricted|dysgnathia complex|question-mark ear syndrome|question mark ear syndrome	http://purl.obolibrary.org/obo/MONDO_0000107	Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.	SNOMEDCT:702443003|UMLS:C1865295|UMLS:CN160484|MESH:C538270|ORPHA:137888
MONDO:0002769	leukorrhea	biolink:Disease	mondo	MESH:D007973|COHD:195873|DOID:3766|ICD10:N89.8		leukorrhea of vagina|discharge - leukorrhea	http://purl.obolibrary.org/obo/MONDO_0002769	Whitish or yellowish mucosal vaginal discharge.	DOID:3766|MESH:D007973|NCIT:C34775
MONDO:0014761	hereditary pediatric Behçet-like disease	biolink:Disease	mondo	UMLS:C4225218|Orphanet:476102|OMIM:616744	ordo_disease	AISBL|hereditary pediatric Behçet-like disease|Behçet-like disease due to haploinsufficiency of A20|autoinflammatory syndrome, familial, Behcet-like; AISBL|Behçet-like disease due to HA20|autoinflammatory syndrome, familial, Behcet-like	http://purl.obolibrary.org/obo/MONDO_0014761		UMLS:C4225218|ORPHA:476102|http://identifiers.org/omim/616744
MONDO:0014760	TFRC-related combined immunodeficiency	biolink:Disease	mondo	OMIM:616740|UMLS:C4225219|Orphanet:476113	ordo_disease	combined immunodeficiency due to TFRC deficiency|immunodeficiency type 46|immunodeficiency 46; IMD46|Cid due to TFRC deficiency|immunodeficiency 46|IMD46	http://purl.obolibrary.org/obo/MONDO_0014760		UMLS:C4225219|ORPHA:476113|http://identifiers.org/omim/616740
NCBITaxon:121752	Lacazia loboi	organism taxon	mondo	GC_ID:1		Paracoccidioides loboi nom. inval.	http://purl.obolibrary.org/obo/NCBITaxon_121752		
HGNC:6278	KCNK3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6278		
MONDO:0002787	adamantinous craniopharyngioma	biolink:Disease	mondo	NCIT:C4726|DOID:3846|UMLS:C0431129|EFO:1000069|ICDO:9351/1		adamantinous neoplasm of Rathke's pouch|adamantinous Rathke's pouch neoplasm|adamantinomatous craniopharyngioma|adamantinous tumor of Rathke's pouch|adamantinous craniopharyngioma (morphologic abnormality)|craniopharyngioma, adamantinomatous|adamantinous Rathke's pouch tumor	http://purl.obolibrary.org/obo/MONDO_0002787	A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO)	NCIT:C4726|DOID:3846|UMLS:C0431129
MONDO:0026732	hypothyroidism, congenital, nongoitrous, 9	biolink:Disease	mondo	OMIM:301035		HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9; CHNG9	http://purl.obolibrary.org/obo/MONDO_0026732		http://identifiers.org/omim/301035
MONDO:0000124	obsolete focal facial dermal dysplasia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000124		
MONDO:0002788	papillary craniopharyngioma	biolink:Disease	mondo	DOID:3847|EFO:1000447|NCIT:C4725|UMLS:C0431128|ICDO:9352/1		papillary craniopharyngioma (morphologic abnormality)|papillary neoplasm of Rathke's pouch|papillary Rathke's pouch neoplasm|craniopharyngioma, papillary (morphologic abnormality)|papillary Rathke pouch neoplasm|craniopharyngioma, papillary|papillary Rathke's pouch tumor|papillary tumor of Rathke's pouch	http://purl.obolibrary.org/obo/MONDO_0002788	A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)	NCIT:C4725|UMLS:C0431128|DOID:3847
MONDO:0026733	intellectual developmental disorder, x-linked, syndromic, Hackmann-Di Donato type	biolink:Disease	mondo	OMIM:301039		Mental Retardation, X-Linked, With Marfanoid Habitus, 2|INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD	http://purl.obolibrary.org/obo/MONDO_0026733		http://identifiers.org/omim/301039
MONDO:0000123	obsolete factor V and Factor VIII, combined deficiency of	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000123		
MONDO:0002789	hemangiopericytic tumor	biolink:Disease	mondo	NCIT:C7076|EFO:1000289|UMLS:C0476144|DOID:3850		hemangiopericytic neoplasm	http://purl.obolibrary.org/obo/MONDO_0002789	A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern.	UMLS:C0476144|NCIT:C7076|DOID:3850
MONDO:0026730	Basilicata-Akhtar syndrome	biolink:Disease	mondo	OMIM:301032		BASILICATA-AKHTAR SYNDROME; MRXSBA|Mental Retardation, X-Linked, Syndromic 36|Mental Retardation, X-Linked, Syndromic, Basilicata-Akhtar Type	http://purl.obolibrary.org/obo/MONDO_0026730		http://identifiers.org/omim/301032
MONDO:0000122	obsolete facial paresis, hereditary congenital	biolink:Disease	mondo	DC:0000516			http://purl.obolibrary.org/obo/MONDO_0000122		
HP:0011563	Abnormal ventriculoarterial connection	biolink:PhenotypicFeature	mondo	UMLS:C4023296		Abnormal ventriculoarterial connexion|Abnormal ventriculo-arterial connection	http://purl.obolibrary.org/obo/HP_0011563	An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta.	
MONDO:0026731	hypothyroidism, congenital, nongoitrous, 8	biolink:Disease	mondo	OMIM:301033		HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8; CHNG8	http://purl.obolibrary.org/obo/MONDO_0026731		http://identifiers.org/omim/301033
MONDO:0000121	obsolete emphysema	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000121		
MONDO:0002783	Shwartzman phenomenon	biolink:Disease	mondo	DOID:3825|UMLS:C0037018|GARD:0007636|MESH:D012790	gard_rare	Shwartzman reaction|Shwartzman reaction (function)	http://purl.obolibrary.org/obo/MONDO_0002783	Hemorrhagic necrosis that was first demonstrated in rabbits with a two-step reaction, an initial local (intradermal) or general (intravenous) injection of a priming endotoxin (endotoxins) followed by a second intravenous endotoxin injection (provoking agent) 24 h later. The acute inflammation damages the small blood vessels. The following intravascular coagulation leads to capillary and venous thrombosis and necrosis. Shwartzman phenomenon can also occur in other species with a single injection of a provoking agent, and during infections or pregnancy. Its susceptibility depends on the status of immune system, coagulation, fibrinolysis, and blood flow.	UMLS:C0037018|MESH:D012790|DOID:3825
MONDO:0000128	giant axonal neuropathy	biolink:Disease	mondo	MESH:D056768|UMLS:C1850386|DC:0000525|NCIT:C84728|OMIMPS:256850|SCTID:128207002|ICD9:349.89	clingen		http://purl.obolibrary.org/obo/MONDO_0000128	A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs.	NCIT:C84728|UMLS:C1850386|MESH:D056768|SNOMEDCT:128207002
MONDO:0000127	geleophysic dysplasia	biolink:Disease	mondo	ICD9:759.89|SCTID:28557005|GARD:0002449|OMIMPS:231050|DC:0000524|MedDRA:10063361|ICD10:Q87.1|Orphanet:2623|DOID:0111724	ordo_malformation_syndrome	Geleophysic dwarfism|geleophysic dwarfism syndrome	http://purl.obolibrary.org/obo/MONDO_0000127	Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').	SNOMEDCT:28557005|ORPHA:2623|MESH:C537677|MEDDRA:10063361|DOID:0111724|UMLS:C3489726
MONDO:0002784	obsolete craniopharyngioma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002784		
MONDO:0002785	skull base neoplasm	biolink:Disease	mondo	NCIT:C4676|DOID:3842|UMLS:C0376527|MESH:D019292		basicranium neoplasm|tumor of skull base|tumor of the skull base|neoplasm of basicranium|skull base cancer|basicranium tumor|basicranium neoplasm (disease)|neoplasm of skull base|skull base tumor|skull base neoplasm|neoplasm of the skull base|tumor of basicranium|tumors of skull base	http://purl.obolibrary.org/obo/MONDO_0002785	A benign or malignant neoplasm that affects the skull base.	NCIT:C4676|UMLS:C0376527|MESH:D019292|DOID:3842
UBERON:0011380	female external urethral sphincter	biolink:AnatomicalEntity	mondo			compressor urethrae|urethrovaginal sphincter|rhabdosphincter of female urethra|sphincter urethrovaginalis|striated muscle layer of female urethra|outer muscle layer of female urethra|musculus sphincter urethrae externus urethrae femininae|external urethral sphincter of female urethra|musculus sphincter urethrae externus (urethra feminina)	http://purl.obolibrary.org/obo/UBERON_0011380	The external sphincter muscle of female urethra is a muscle which controls urination.	
MONDO:0000126	obsolete gastric cancer	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000126		
MONDO:0002786	diencephalic cancer	biolink:Disease	mondo	DOID:3843|NCIT:C5126|UMLS:C1334576		malignant diencephalic tumor|tumor of diencephalon|malignant diencephalic neoplasm|cancer of diencephalon|malignant diencephalic neoplasms|diencephalon cancer|diencephalic neoplasm|malignant diencephalon neoplasm|malignant neoplasm of diencephalon	http://purl.obolibrary.org/obo/MONDO_0002786	A cancer involving a diencephalon.	UMLS:C1334576|DOID:3843|NCIT:C5126
MONDO:0000125	obsolete fundus dystrophy, pseudoinflammatory	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000125		
MONDO:0002780		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002780		
MONDO:0014749	tooth agenesis, selective, 7	biolink:Disease	mondo	UMLS:C4225231|OMIM:616724		tooth agenesis, selective, type 7|tooth agenesis, selective, 7|tooth agenesis caused by mutation in LRP6|tooth agenesis, selective, 7; STHAG7|STHAG7|LRP6 tooth agenesis	http://purl.obolibrary.org/obo/MONDO_0014749	Any tooth agenesis in which the cause of the disease is a mutation in the LRP6 gene.	http://identifiers.org/omim/616724|UMLS:C4225231
MONDO:0002781	glossopharyngeal nerve paralysis	biolink:Disease	mondo	NCIT:C27335|DOID:3816|UMLS:C0919940		cranial nerve palsy of glossopharyngeal nerve|glossopharyngeal nerve cranial nerve palsy	http://purl.obolibrary.org/obo/MONDO_0002781	Paralysis of the glossopharyngeal nerve.	UMLS:C0919940|DOID:3816|NCIT:C27335
MONDO:0002782	cranial nerve palsy	biolink:Disease	mondo	NCIT:C26941|DOID:3817|UMLS:C0151311		cranial nerve palsies|cranial nerve palsy|cranial nerve paralysis	http://purl.obolibrary.org/obo/MONDO_0002782	Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness.	UMLS:C0151311|DOID:3817|NCIT:C26941
MONDO:0014748	progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	biolink:Disease	mondo	UMLS:C4225232|Orphanet:457395|OMIM:616723	ordo_malformation_syndrome	spondyloepimetaphyseal dysplasia, faden-ALKURAYA type; SEMDFA|spondyloepimetaphyseal dysplasia, progressive, with short stature, Facial Dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis|spondyloepimetaphyseal dysplasia, faden-Alkuraya type|SEMDFA|spondyloepimetaphyseal dysplasia, progressive, with short stature, Facial Dysmorphism, short fourth metatarsals, and intellectual disability, with or without craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0014748		http://identifiers.org/omim/616723|ORPHA:457395|UMLS:C4225232
MONDO:0000120	obsolete ectopia lentis, isolated	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000120		
MONDO:0014754	primary coenzyme Q10 deficiency 8	biolink:Disease	mondo	UMLS:C4225226|DOID:0070245|OMIM:616733		coenzyme Q10 deficiency, primary, type 8|COQ10D8|primary coenzyme Q10 deficiency 8|coenzyme Q10 deficiency, primary, 8|coenzyme Q10 deficiency caused by mutation in COQ7|COQ7 coenzyme Q10 deficiency	http://purl.obolibrary.org/obo/MONDO_0014754	Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ7 gene.	http://identifiers.org/omim/616733|DOID:0070245|UMLS:C4225226
MONDO:0014753	autosomal recessive optic atrophy	biolink:Disease	mondo	ICD10:H47.2|UMLS:CN229293|Orphanet:98676	ordo_disease	autosomal recessive nonsyndromic optic atrophy|autosomal recessive isolated optic atrophy	http://purl.obolibrary.org/obo/MONDO_0014753		UMLS:CN229293|ORPHA:98676
GO:0120025	plasma membrane bounded cell projection	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0120025	A prolongation or process extending from a cell and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon.	
MONDO:0014752	nephrotic syndrome, type 11	biolink:Disease	mondo	UMLS:C4225228|DOID:0080385|OMIM:616730		nephrotic syndrome, type 11; NPHS11|familial nephrotic syndrome caused by mutation in Nup107|familial nephrotic syndrome caused by mutation in NUP107|NPHS11|nephrotic syndrome, type 11|NUP107 familial nephrotic syndrome|Nup107 familial nephrotic syndrome	http://purl.obolibrary.org/obo/MONDO_0014752	Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene.	http://identifiers.org/omim/616730|DOID:0080385|UMLS:C4225228
MONDO:0014751	palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	biolink:Disease	mondo	UMLS:C4225229|OMIM:616728|Orphanet:477993	ordo_malformation_syndrome	palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome|cleft palate, psychomotor retardation, and distinctive FACIAL features; CPRF|CPRF|cleft palate, psychomotor retardation, and distinctive Facial features	http://purl.obolibrary.org/obo/MONDO_0014751	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.	http://identifiers.org/omim/616728|UMLS:C4225229|ORPHA:477993
MONDO:0014758	radioulnar synostosis with amegakaryocytic thrombocytopenia 2	biolink:Disease	mondo	OMIM:616738|UMLS:C4225221		radioulnar synostosis with amegakaryocytic thrombocytopenia 2|RUSAT2|MECOM radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome|radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in MECOM|radioulnar synostosis with amegakaryocytic thrombocytopenia type 2|radioulnar synostosis with amegakaryocytic thrombocytopenia 2; RUSAT2	http://purl.obolibrary.org/obo/MONDO_0014758	Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the MECOM gene.	http://identifiers.org/omim/616738|UMLS:C4225221
MONDO:0014757	macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	biolink:Disease	mondo	Orphanet:487796|UMLS:C4225222|OMIM:616737	ordo_malformation_syndrome	Takenouchi-Kosaki syndrome|TKS|TAKENOUCHI-Kosaki syndrome; TKS|macrothrombocytopenia and intellectual disability syndrome|macrothrombocytopenia and mental retardation syndrome	http://purl.obolibrary.org/obo/MONDO_0014757		http://identifiers.org/omim/616737|ORPHA:487796|UMLS:C4225222
MONDO:0014756	tremor, hereditary essential, 5	biolink:Disease	mondo	DOID:0111432|OMIM:616736|UMLS:C4225223		tremor, hereditary essential, 5; ETM5|tremor, hereditary essential, 5|essential tremor caused by mutation in TENM4|tremor, hereditary essential, type 5|ETM5|TENM4 essential tremor|ETM5	http://purl.obolibrary.org/obo/MONDO_0014756	Any essential tremor in which the cause of the disease is a mutation in the TENM4 gene.	http://identifiers.org/omim/616736|UMLS:C4225223|DOID:0111432
MONDO:0014755	skin creases, congenital symmetric circumferential, 2	biolink:Disease	mondo	OMIM:616734		CSCSC2|skin creases, congenital symmetric circumferential, 2; CSCSC2|skin creases, congenital symmetric circumferential, type 2|MAPRE2 multiple benign circumferential skin creases on limbs|skin creases, congenital symmetric circumferential, 2|multiple benign circumferential skin creases on limbs caused by mutation in MAPRE2	http://purl.obolibrary.org/obo/MONDO_0014755		http://identifiers.org/omim/616734
MONDO:0026729	congenital disorder of glycosylation, type ICC	biolink:Disease	mondo	OMIM:301031		CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG1CC	http://purl.obolibrary.org/obo/MONDO_0026729		http://identifiers.org/omim/301031
HGNC:6283	KCNK9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6283		
HGNC:6284	KCNMA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6284		
MONDO:0000119	congenital heart defects, multiple types	biolink:Disease	mondo	DC:0000506		CHTD	http://purl.obolibrary.org/obo/MONDO_0000119		
MONDO:0026727	Shukla-Vernon syndrome	biolink:Disease	mondo	OMIM:301029		SHUKLA-VERNON SYNDROME; SHUVER	http://purl.obolibrary.org/obo/MONDO_0026727		http://identifiers.org/omim/301029
MONDO:0000118	reticulate pigment disorder	biolink:Disease	mondo	OMIMPS:179850|DC:0000504		reticulate pigment disorders	http://purl.obolibrary.org/obo/MONDO_0000118		
MONDO:0014750	primary ciliary dyskinesia 33	biolink:Disease	mondo	DOID:0110619|ICD10:Q34.8|OMIM:616726|UMLS:C4225230		primary ciliary dyskinesia 33 without situs inversus|ciliary dyskinesia, primary, 33, without situs inversus|ciliary dyskinesia, primary, 33; CILD33|primary ciliary dyskinesia caused by mutation in GAS8|ciliary dyskinesia, primary, type 33|CILD33|primary ciliary dyskinesia type 33|GAS8 primary ciliary dyskinesia|ciliary dyskinesia, primary, 33	http://purl.obolibrary.org/obo/MONDO_0014750	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the GAS8 gene.	http://identifiers.org/omim/616726|UMLS:C4225230|DOID:0110619
CHEBI:77941	EC 3.5.1.4 (amidase) inhibitor	biolink:ChemicalSubstance	mondo			amidase (EC 3.5.1.4) inhibitors|fatty acylamidase inhibitors|EC 3.5.1.4 (amidase) inhibitors|acylamide amidohydrolase inhibitors|acylamidase inhibitors|acylamidase inhibitor|acylamide amidohydrolase inhibitor|fatty acylamidase inhibitor|amidase (EC 3.5.1.4) inhibitor|N-acetylaminohydrolase inhibitors|amidase inhibitors|deaminase inhibitor|EC 3.5.1.4 inhibitor|amidohydrolase inhibitors|amidohydrolase inhibitor|EC 3.5.1.4 inhibitors|deaminase inhibitors|N-acetylaminohydrolase inhibitor|amidase inhibitor	http://purl.obolibrary.org/obo/CHEBI_77941	An EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor that interferes with the action of amidase (EC 3.5.1.4).	
CHEBI:28938	ammonium	biolink:ChemicalSubstance	mondo			ammonium ion|[NH4](+)|Ammonium(1+)|ammonium|ammonium cation|NH4+|azanium|NH4(+)	http://purl.obolibrary.org/obo/CHEBI_28938	An onium cation obtained by protonation of ammonia.	
MONDO:0002754	extramedullary plasmacytoma	biolink:Disease	mondo	ICD10:C90.2|ICD9:203.80|NCIT:C4002|UMLS:C0278619|ONCOTREE:EP|ICDO:9734/3|DOID:3720|ICD10:C90.20|SCTID:188718006		EP|extraosseous plasmacytoma|plasmacytoma, extramedullary (not occurring in bone)|plasmacytoma, extramedullary|extramedullary plasmacytoma|extramedullary plasmacytoma (clinical)	http://purl.obolibrary.org/obo/MONDO_0002754	A plasma cell neoplasm arising at an extraosseous site. There is no involvement of the bone marrow. It most frequently involves the oropharynx, nasopharynx, sinuses, and larynx. Other sites of involvement include the gastrointestinal tract, central nervous system, breast, skin, lymph nodes, and bladder. A minority of patients have a monoclonal gammopathy. Treatment includes radiation therapy. Progression to plasma cell myeloma occurs in a minority of patients.	DOID:3720|NCIT:C4002|SNOMEDCT:188718006|UMLS:C0278619
MONDO:0026721	mitochondrial complex 1 deficiency, nuclear type 30	biolink:Disease	mondo	OMIM:301021		MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30; MC1DN30	http://purl.obolibrary.org/obo/MONDO_0026721		http://identifiers.org/omim/301021
MONDO:0002755	solitary osseous plasmacytoma	biolink:Disease	mondo	UMLS:C0272256|NCIT:C7812|DOID:3722|SCTID:426336007|ICD9:238.6|ONCOTREE:SPB		isolated plasmacytoma of bone|solitary plasmacytoma of bone|isolated osseous plasmacytoma|SPB	http://purl.obolibrary.org/obo/MONDO_0002755	A localized, clonal (malignant) plasma cell infiltrate in the bone, without peripheral blood involvement. The most commonly affected bones are the vertebrae, ribs, skull, pelvis and femur. X-rays examination reveals a solitary lytic lesion.	DOID:3722|SNOMEDCT:426336007|NCIT:C7812|UMLS:C0272256
CHEBI:77956	L-erythro-sphingosine(1+)	biolink:ChemicalSubstance	mondo			(2R,3S,4E)-1,3-dihydroxyoctadec-4-en-2-aminium|L-erythro-sphing-4-enine(1+)|L-erythro-sphing-4-enine	http://purl.obolibrary.org/obo/CHEBI_77956	A cationic sphingoid resulting from the protonation of the amino group of L-erythro-sphingosine; major species at pH 7.3.	
MONDO:0026722	Mullegama-Klein-Martinez syndrome	biolink:Disease	mondo	OMIM:301022		Neurodevelopmental Disorder, X-Linked, With Craniofacial Abnormalities|MULLEGAMA-KLEIN-MARTINEZ SYNDROME; MKMS	http://purl.obolibrary.org/obo/MONDO_0026722		http://identifiers.org/omim/301022
MONDO:0002756	solitary plasmacytoma of chest wall	biolink:Disease	mondo	NCIT:C6711|DOID:3723|UMLS:C1332936		chest wall solitary plasmacytoma|plasmacytoma of chest wall|solitary plasmacytoma of the chest wall|solitary plasmacytoma of chest wall|chest wall plasmacytoma	http://purl.obolibrary.org/obo/MONDO_0002756	A solitary plasmacytoma that arises from the chest wall.	DOID:3723|NCIT:C6711|UMLS:C1332936
MONDO:0026720	mitochondrial complex 1 deficiency, nuclear type 12	biolink:Disease	mondo	OMIM:301020		MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12; MC1DN12	http://purl.obolibrary.org/obo/MONDO_0026720		http://identifiers.org/omim/301020
MONDO:0002757	acute allergic sanguinous otitis media	biolink:Disease	mondo	ICD9:381.06|DOID:3728|SCTID:17866004|UMLS:C0155420			http://purl.obolibrary.org/obo/MONDO_0002757	A acute sanguinous otitis media caused by an allergen.	DOID:3728|UMLS:C0155420|SNOMEDCT:17866004
MONDO:0002750	bladder colloid adenocarcinoma	biolink:Disease	mondo	DOID:3710|NCIT:C39837|UMLS:C1511193		bladder mucinous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002750		NCIT:C39837|UMLS:C1511193|DOID:3710
MONDO:0026726	nephrotic syndrome, type 20	biolink:Disease	mondo	OMIM:301028|DOID:0070357		NEPHROTIC SYNDROME, TYPE 20; NPHS20	http://purl.obolibrary.org/obo/MONDO_0026726		http://identifiers.org/omim/301028|DOID:0070357
MONDO:0002751	bladder adenocarcinoma	biolink:Disease	mondo	ONCOTREE:BLAD|UMLS:C0279682|EFO:1000125|DOID:3711|NCIT:C4032|SCTID:255110003		urinary bladder adenocarcinoma|bladder adenocarcinoma, not otherwise specified|bladder adenocarcinoma|adenocarcinoma of the urinary bladder|adenocarcinoma of urinary bladder|adenocarcinoma of the bladder|adenocarcinoma of bladder|blad	http://purl.obolibrary.org/obo/MONDO_0002751	A carcinoma that arises from glandular epithelial cells of the urinary bladder	NCIT:C4032|UMLS:C0279682|SNOMEDCT:255110003|DOID:3711
MONDO:0002752	ovarian adenocarcinoma	biolink:Disease	mondo	NCIT:C7700|EFO:0006460|MedDRA:10051938|DOID:3713|ICD10:C56|Orphanet:213504	ordo_disease	adenocarcinoma of ovary|ovarian adenocarcinoma|adenocarcinoma of the ovary|ovarian adenoacanthoma|ovary adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002752	An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma.	UMLS:C0948216|ORPHA:213504|MEDDRA:10051938|NCIT:C7700|DOID:3713
MONDO:0026723	intellectual developmental disorder, X-linked 108	biolink:Disease	mondo	OMIM:301024		INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108; MRX108|Mental Retardation, X-Linked 108	http://purl.obolibrary.org/obo/MONDO_0026723		http://identifiers.org/omim/301024
UBERON_CORE:proximally_connected_to	proximally connected to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/uberon/core#proximally_connected_to	x proximally_connected_to y iff the proximal part of x is connected to y. i.e. x connected_to y and x distal_to y.	
MONDO:0002753	obsolete mucinous stomach adenocarcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002753		
MONDO:0026724	Paganini-Miozzo syndrome	biolink:Disease	mondo	OMIM:301025		Mental Retardation, X-Linked, Syndromic, Paganini-Miozzo Type|PAGANINI-MIOZZO SYNDROME; MRXSPM	http://purl.obolibrary.org/obo/MONDO_0026724		http://identifiers.org/omim/301025
UBERON:0011375	skin of prepuce of clitoris	biolink:AnatomicalEntity	mondo			preputial skin of clitoris	http://purl.obolibrary.org/obo/UBERON_0011375	A zone of skin that is part of a prepuce of clitoris.	
MONDO:0014739	autosomal recessive nonsyndromic deafness 97	biolink:Disease	mondo	ICD10:H90.3|OMIM:616705|UMLS:C4084709|DOID:0110539		deafness, autosomal recessive type 97|autosomal recessive nonsyndromic deafness caused by mutation in MET|DFNB97|autosomal recessive deafness 97|deafness, autosomal recessive 97; DFNB97|deafness, autosomal recessive 97|autosomal recessive nonsyndromic deafness type 97|MET autosomal recessive nonsyndromic deafness	http://purl.obolibrary.org/obo/MONDO_0014739	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MET gene.	DOID:0110539|UMLS:C4084709|http://identifiers.org/omim/616705
UBERON:0011374	prepuce	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011374	A retractable double-layered fold of skin and mucous membrane that covers the glans penis or clitoris. Glands may also be present.	
MONDO:0014738	autosomal dominant nonsyndromic deafness 69	biolink:Disease	mondo	ICD10:H90.3|UMLS:C4225241|OMIM:616697|DOID:0110590		unilateral or asymmetric congenital deafness|DCUA|KITLG autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 69|DFNA69|autosomal dominant nonsyndromic deafness caused by mutation in KITLG|deafness, autosomal dominant 69; DFNA69|deafness, congenital, unilateral or asymmetric|autosomal dominant deafness 69|autosomal dominant nonsyndromic deafness type 69	http://purl.obolibrary.org/obo/MONDO_0014738	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KITLG gene.	UMLS:C4225241|DOID:0110590|http://identifiers.org/omim/616697
MONDO:0014737	dehydrated hereditary stomatocytosis 2	biolink:Disease	mondo	OMIM:616689|UMLS:C4225242|DOID:0111577		dehydrated hereditary stomatocytosis 2; DHS2|dehydrated hereditary stomatocytosis caused by mutation in KCNN4|DHS2|Desiccytosis Gardos|KCNN4 dehydrated hereditary stomatocytosis|Dehydrated hereditary stomatocytosis 2|xerocytosis Gardos|Dehydrated hereditary stomatocytosis type 2|DHS2	http://purl.obolibrary.org/obo/MONDO_0014737	Any dehydrated hereditary stomatocytosis in which the cause of the disease is a mutation in the KCNN4 gene.	DOID:0111577|http://identifiers.org/omim/616689|UMLS:C4225242
UBERON:0011379	male external urethral sphincter	biolink:AnatomicalEntity	mondo			musculus sphincter urethrae externus urethrae masculinae|bulboglandular muscle|musculus sphincter urethrae membranaceae|external urethral sphincter of male urethra|musculus sphincter urethrae externus (urethra masculina)|male sphincter urethrae muscle|male sphincter urethrae|male urethral sphincter muscle|bulboglandular	http://purl.obolibrary.org/obo/UBERON_0011379	The external sphincter muscle of urethra (or sphincter urethrae membranaceae) surrounds the whole length of the membranous portion of the urethra, and is enclosed in the fasciæ of the urogenital diaphragm. They arch across the front of the urethra and bulbourethral glands, pass around the urethra, and behind it unite with the muscle of the opposite side, by means of a tendinous raphé.	
GO:0120039	plasma membrane bounded cell projection morphogenesis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0120039	The process in which the anatomical structures of a plasma membrane bounded cell projection are generated and organized.	
OBO:so#part_of	part_of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/so#part_of	X part_of Y if X is a subregion of Y.	
GO:0120035	regulation of plasma membrane bounded cell projection organization	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0120035	Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of plasma membrane bounded cell projections.	
MONDO:0014743	rhizomelic chondrodysplasia punctata type 5	biolink:Disease	mondo	Orphanet:468717|UMLS:C4225237|DOID:0110854|OMIM:616716	ordo_malformation_syndrome	RCDP5|Rcdp5|rhizomelic chondrodysplasia punctata caused by mutation in PEX5|rhizomelic chondrodysplasia punctata, type 5; RCDP5|rhizomelic chondrodysplasia punctata, type 5|PEX5 rhizomelic chondrodysplasia punctata	http://purl.obolibrary.org/obo/MONDO_0014743	Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the PEX5 gene.	DOID:0110854|http://identifiers.org/omim/616716|ORPHA:468717|UMLS:C4225237
MONDO:0014742	Parkinson disease 22, autosomal dominant	biolink:Disease	mondo	DOID:0080504|UMLS:C4225238|OMIM:616710		Parkinson disease 22, autosomal dominant; PARK22|Parkinson disease 22, autosomal dominant|PARK22|CHCHD2 Parkinson disease|Parkinson disease caused by mutation in CHCHD2	http://purl.obolibrary.org/obo/MONDO_0014742	Any Parkinson disease in which the cause of the disease is a mutation in the CHCHD2 gene.	http://identifiers.org/omim/616710|DOID:0080504|UMLS:C4225238
GO:0120036	plasma membrane bounded cell projection organization	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0120036	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a plasma membrane bounded prolongation or process extending from a cell, e.g. a cilium or axon.	
MONDO:0014741	facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	biolink:Disease	mondo	UMLS:C4225239|OMIM:616708|UMLS:CN242167|Orphanet:466950	ordo_clinical_subtype	DESANTO-SHINAWI syndrome; DESSH|developmental delay, behavioral abnormalities, Facial Dysmorphism, and ocular abnormalities|chromosome 10P12-p11 deletion syndrome|Desanto-Shinawi syndrome|DESSH	http://purl.obolibrary.org/obo/MONDO_0014741		http://identifiers.org/omim/616708|UMLS:CN242167|ORPHA:466950|UMLS:C4225239
GO:0120038	obsolete plasma membrane bounded cell projection part	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0120038	OBSOLETE. Any constituent part of a plasma membrane bounded cell projection, a prolongation or process extending from a cell, e.g. a cilium or axon.	
MONDO:0014740	autosomal dominant nonsyndromic deafness 68	biolink:Disease	mondo	UMLS:C4225240|OMIM:616707|ICD10:H90.3|DOID:0110589		autosomal dominant nonsyndromic deafness type 68|autosomal dominant deafness 68|autosomal dominant nonsyndromic deafness caused by mutation in HOMER2|deafness, autosomal dominant type 68|DFNA68|deafness, autosomal dominant 68|deafness, autosomal dominant 68; DFNA68|HOMER2 autosomal dominant nonsyndromic deafness	http://purl.obolibrary.org/obo/MONDO_0014740	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the HOMER2 gene.	http://identifiers.org/omim/616707|UMLS:C4225240|DOID:0110589
MONDO:0014747	familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome	biolink:Disease	mondo	UMLS:C4225233|Orphanet:488197|OMIM:616722	ordo_disease	retinal dystrophy and iris coloboma with or without congenital cataract; RDICC|retinal dystrophy and iris coloboma with or without congenital cataract|RDICC	http://purl.obolibrary.org/obo/MONDO_0014747		ORPHA:488197|http://identifiers.org/omim/616722|UMLS:C4225233
GO:0120031	plasma membrane bounded cell projection assembly	biolink:OntologyClass	mondo			eupodium	http://purl.obolibrary.org/obo/GO_0120031	Formation of a prolongation or process extending and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon.	
NCBITaxon:121739	Lacazia	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_121739		
MONDO:0014746	SLC39A8-CDG	biolink:Disease	mondo	Orphanet:468699|OMIM:616721|UMLS:CN234734|UMLS:C4225234|DOID:0070266	ordo_disease	congenital disorder of glycosylation type IIn|CDG syndrome type IIn|congenital disorder of glycosylation type 2n|CDG2N|CDG-IIn|carbohydrate deficient glycoprotein syndrome type IIn|congenital disorder of glycosylation, type IIn|SLC39A8 deficiency|congenital disorder of glycosylation, type IIn; CDG2N|CDG IIn	http://purl.obolibrary.org/obo/MONDO_0014746		http://identifiers.org/omim/616721|UMLS:CN234734|DOID:0070266|ORPHA:468699|UMLS:C4225234
GO:0120032	regulation of plasma membrane bounded cell projection assembly	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0120032	Any process that modulates the rate, frequency, or extent of plasma membrane bounded cell projection assembly.	
MONDO:0014745	congenital myasthenic syndrome 19	biolink:Disease	mondo	OMIM:616720|DOID:0110673|UMLS:C4225235		CMS19|congenital myasthenic syndrome type 19|myasthenic syndrome, congenital, type 19|congenital myasthenic syndrome caused by mutation in COL13A1|COL13A1 congenital myasthenic syndrome|myasthenic syndrome, congenital, 19; CMS19|myasthenic syndrome, congenital, 19	http://purl.obolibrary.org/obo/MONDO_0014745	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the COL13A1 gene.	DOID:0110673|http://identifiers.org/omim/616720|UMLS:C4225235
GO:0120033	negative regulation of plasma membrane bounded cell projection assembly	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0120033	Any process that stops, prevents or reduces the frequency, rate or extent of plasma membrane bounded cell projection assembly.	
MONDO:0014744	acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	biolink:Disease	mondo	Orphanet:466794|DOID:0111155|UMLS:C4225236|OMIM:616719	ordo_disease	spinocerebellar ataxia, autosomal recessive 21; SCAR21|spinocerebellar ataxia, autosomal recessive 21|spinocerebellar ataxia, autosomal recessive 21, with hepatopathy|autosomal recessive spinocerebellar ataxia 21|autosomal recessive spinocerebellar ataxia 21 with hepatopathy|autosomal recessive spinocerebellar ataxia type 21|SCAR21|spinocerebellar ataxia, autosomal recessive type 21|acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	http://purl.obolibrary.org/obo/MONDO_0014744	An autosomal recessive cerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13.	http://identifiers.org/omim/616719|ORPHA:466794|DOID:0111155|UMLS:C4225236
GO:0120034	positive regulation of plasma membrane bounded cell projection assembly	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0120034	Any process that activates or increases the frequency, rate or extent of plasma membrane bounded cell projection assembly.	
HGNC:6293	KCNN4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6293		
HGNC:6294	KCNQ1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6294		
HGNC:6295	KCNQ1OT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6295		
HGNC:6296	KCNQ2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6296		
MONDO:0002747	endometrial mucinous adenocarcinoma	biolink:Disease	mondo	DOID:3707|NCIT:C40144|ONCOTREE:UMC|EFO:1000236|UMLS:C1519859		uterine corpus mucinous adenocarcinoma|endometrial mucinous adenocarcinoma|uterine mucinous carcinoma|endometrium mucinous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002747	A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin.	DOID:3707|UMLS:C1519859|NCIT:C40144
HGNC:6297	KCNQ3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6297		
MONDO:0002748	rectum mucinous adenocarcinoma	biolink:Disease	mondo	UMLS:C0279652|DOID:3709|NCIT:C7973		rectum mucinous adenocarcinoma|mucinous adenocarcinoma of rectum|rectal colloidal adenocarcinoma|mucinous adenocarcinoma of the rectum|colloid adenocarcinoma of rectum|colloidal adenocarcinoma of rectum|colloid adenocarcinoma of the rectum|rectal colloid adenocarcinoma|rectal mucinous adenocarcinoma|colloidal adenocarcinoma of the rectum	http://purl.obolibrary.org/obo/MONDO_0002748	An invasive adenocarcinoma of the rectum characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion.	DOID:3709|NCIT:C7973|UMLS:C0279652
HGNC:6298	KCNQ4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6298		
MONDO:0002749	extracranial neuroblastoma	biolink:Disease	mondo	UMLS:C1333499|NCIT:C5437|DOID:371		extracranial neuroblastoma	http://purl.obolibrary.org/obo/MONDO_0002749	A neuroblastoma arising from an anatomic site other than the brain.	NCIT:C5437|UMLS:C1333499|DOID:371
MONDO:0002765	plantar verrucous skin carcinoma	biolink:Disease	mondo	UMLS:C1335424|NCIT:C6811|DOID:3751		plantar verrucous carcinoma of skin|plantar verrucous skin carcinoma|plantar verrucous carcinoma of the skin|plantar part of pes verrucous carcinoma	http://purl.obolibrary.org/obo/MONDO_0002765	A verrucous carcinoma that involves the plantar part of pes.	NCIT:C6811|UMLS:C1335424|DOID:3751
MONDO:0000102	obsolete vertigo	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000102		
MONDO:0002766	larynx verrucous carcinoma	biolink:Disease	mondo	SCTID:707427000|NCIT:C8188|UMLS:C0280328|DOID:3752		verrucous carcinoma of the larynx|laryngeal verrucous carcinoma|laryngeal throat verrucous cancer|verrucous carcinoma of larynx|larynx verrucous carcinoma	http://purl.obolibrary.org/obo/MONDO_0002766	A well differentaited, non-metastasizing squamous cell carcinoma arising from the larynx. It is an exophytic, warty, and slow growing tumor affecting predominantly older men. It is associated with tobacco smoking. Symptoms include hoarseness, airway obstruction, weight loss, dysphagia, and throat pain. If left untreated, it may cause extensive local destruction.	SNOMEDCT:707427000|NCIT:C8188|UMLS:C0280328|DOID:3752
MONDO:0000101	obsolete tumoral calcinosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000101		
MONDO:0000100	obsolete trichorhinophalangeal syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000100		
MONDO:0002767	obsolete protein C deficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002767	A rare thrombophilia disorder characterized by deficiency of protein C. It results in venous thromboembolism.	
MONDO:0002768	true hermaphroditism	biolink:Disease	mondo	SCTID:237821001|UMLS:C0019269|PATO:0001340|DOID:3763|NCIT:C85207		ovotestis|hermaphroditism|true hermaphroditism	http://purl.obolibrary.org/obo/MONDO_0002768	A rare condition characterized by the unequivocal presence of both testicular and ovarian tissues in an individual. It is usually manifested with ambiguous external genitalia.	DOID:3763|NCIT:C85207|NCIT:C45909|SNOMEDCT:237821001|UMLS:C0019269
MONDO:0002761	cervical verrucous carcinoma	biolink:Disease	mondo	DOID:3743|NCIT:C40190|UMLS:C1516435		cervical verrucous carcinoma|uterine cervix verrucous carcinoma	http://purl.obolibrary.org/obo/MONDO_0002761	A highly differentiated variant of cervical squamous cell carcinoma characterized by the presence of a warty surface and stromal invasion with pushing borders. The malignant cells have abundant cytoplasm and minimal nuclear atypia. Koilocytosis is not present.	UMLS:C1516435|NCIT:C40190|DOID:3743
MONDO:0000106	obsolete apnea (disease)	biolink:Disease	mondo	DC:0000472		apnea	http://purl.obolibrary.org/obo/MONDO_0000106		
MONDO:0002762	esophagus verrucous carcinoma	biolink:Disease	mondo	NCIT:C27420|DOID:3747|UMLS:C1333470		verrucous carcinoma of the esophagus|verrucous carcinoma of esophagus|esophagus verrucous carcinoma|esophageal verrucous carcinoma|esophageal verrucous cancer	http://purl.obolibrary.org/obo/MONDO_0002762	A rare variant of esophageal squamous cell carcinoma. It is an exophytic, cauliflower-like or papillary mass that can arise in any part of the esophagus. This variant of squamous cell carcinoma grows slowly and invades locally, with a very low metastasizing potential. (WHO)	UMLS:C1333470|DOID:3747|NCIT:C27420
MONDO:0000105	anemia, nonspherocytic hemolytic	biolink:Disease	mondo	DC:0000470			http://purl.obolibrary.org/obo/MONDO_0000105		
MONDO:0002763	urethral verrucous carcinoma	biolink:Disease	mondo	DOID:3749|UMLS:C1519827|NCIT:C39874		urethra verrucous carcinoma|urethral verrucous carcinoma	http://purl.obolibrary.org/obo/MONDO_0002763	A verrucous carcinoma that involves the urethra.	UMLS:C1519827|NCIT:C39874|DOID:3749
MONDO:0000104	anemia, hypochromic microcytic with iron overload	biolink:Disease	mondo	MESH:C567144|DC:0000469|OMIMPS:206100|UMLS:C2673913		anemia, hypochromic microcytic, with iron overload	http://purl.obolibrary.org/obo/MONDO_0000104		UMLS:C2673913|MESH:C567144
MONDO:0002764	urethra squamous cell carcinoma	biolink:Disease	mondo	ONCOTREE:USCC|NCIT:C6165|DOID:3750|UMLS:C1336890		squamous cell carcinoma of the urethra|squamous cell carcinoma of urethra|urethral epidermoid carcinoma|urethra squamous cell carcinoma|urethral squamous cell carcinoma|urethral squamous cell cancer|urethra epidermoid carcinoma|epidermoid carcinoma of the urethra|USCC|epidermoid carcinoma of urethra	http://purl.obolibrary.org/obo/MONDO_0002764	A well differentiated, moderately differentiated, or poorly differentiated squamous cell carcinoma that arises from the male or female urethra.	UMLS:C1336890|DOID:3750|NCIT:C6165
HP:0011545	Abnormal connection of the cardiac segments	biolink:PhenotypicFeature	mondo	UMLS:C4023306		Discordant connection of the cardiac segments|Abnormal connexion of the cardiac segments	http://purl.obolibrary.org/obo/HP_0011545	A deviance in the normal connections between two cardiac segements.	
MONDO:0000103	obsolete Wilms tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000103		
MONDO:0014729	hereditary spastic paraplegia 75	biolink:Disease	mondo	DOID:0110820|EFO:0009018|ICD10:G11.4|OMIM:616680|UMLS:C4225250|Orphanet:459056	ordo_disease	spastic paraplegia 75, autosomal recessive; SPG75|MAG hereditary spastic paraplegia|spastic paraplegia 75, autosomal recessive|autosomal recessive spastic paraplegia type 75|hereditary spastic paraplegia caused by mutation in MAG|SPG75|autosomal recessive spastic paraplegia 75|hereditary spastic paraplegia type 75	http://purl.obolibrary.org/obo/MONDO_0014729	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the MAG gene.	UMLS:C4225250|ORPHA:459056|DOID:0110820|http://identifiers.org/omim/616680
UBERON:0011363	cranial lymph vasculature	biolink:AnatomicalEntity	mondo			cranial lymph vessels|cranial lymph vessel|cranial lymphatics|set of lymphatic vessels of head|set of cranial lymphatic vessels	http://purl.obolibrary.org/obo/UBERON_0011363	A lymph vasculature that is part of a head.	
MONDO:0014728	combined oxidative phosphorylation defect type 27	biolink:Disease	mondo	Orphanet:477774|UMLS:C4225251|DOID:0111489|EFO:0009037|OMIM:616672	ordo_disease	COXPD27|combined oxidative phosphorylation deficiency 27|combined oxidative phosphorylation deficiency type 27|CARS2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency 27; COXPD27|combined oxidative phosphorylation deficiency caused by mutation in CARS2	http://purl.obolibrary.org/obo/MONDO_0014728	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the CARS2 gene.	UMLS:C4225251|DOID:0111489|ORPHA:477774|http://identifiers.org/omim/616672
MONDO:0014727	immunodeficiency 45	biolink:Disease	mondo	OMIM:616669|UMLS:C4225252		IMD45|immunodeficiency type 45|immunodeficiency 45	http://purl.obolibrary.org/obo/MONDO_0014727		UMLS:C4225252|http://identifiers.org/omim/616669
UBERON:0011362	cranial blood vasculature	biolink:AnatomicalEntity	mondo			set of blood vessels of head|cranial blood vessel|cranial blood vessels	http://purl.obolibrary.org/obo/UBERON_0011362	A blood vasculature that is part of a head.	
MONDO:0014726	Charcot-Marie-Tooth disease axonal type 2X	biolink:Disease	mondo	UMLS:C4225253|Orphanet:466775|DOID:0110176|OMIM:616668|EFO:1001983	ordo_disease	Charcot-Marie-Tooth neuropathy, type 2X|Charcot-Marie-Tooth neuropathy type 2X|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2X|ARCMT2X|SPG11 Charcot-Marie-Tooth disease|autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation|autosomal recessive Charcot-Marie-Tooth disease type 2X|Charcot-Marie-Tooth disease, axonal, type 2x|autosomal recessive axonal Charcot-Marie-Tooth disease type 2X|Charcot-Marie-Tooth disease caused by mutation in SPG11|CMT2X|Charcot-Marie-Tooth disease, axonal, type 2X; CMT2X|autosomal recessive Charcot Marie Tooth disease type 2X	http://purl.obolibrary.org/obo/MONDO_0014726	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the SPG11 gene.	ORPHA:466775|UMLS:C4225253|DOID:0110176|http://identifiers.org/omim/616668
MONDO:0002760	bladder squamous cell carcinoma	biolink:Disease	mondo	NCIT:C4031|ONCOTREE:BLSC|DOID:3742|EFO:1000130|UMLS:C0279681|SCTID:255111004		squamous cell carcinoma of urinary bladder|urinary bladder squamous cell carcinoma|squamous cell carcinoma of the bladder|urinary bladder epidermoid carcinoma|squamous cell carcinoma of bladder|bladder squamous cell cancer|epidermoid carcinoma of the urinary bladder|epidermoid carcinoma of urinary bladder|bladder squamous cell carcinoma|epidermoid carcinoma of the bladder|epidermoid carcinoma of bladder|bladder epidermoid carcinoma|BLSC|squamous cell carcinoma of the urinary bladder	http://purl.obolibrary.org/obo/MONDO_0002760	A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming.	UMLS:C0279681|SNOMEDCT:255111004|DOID:3742|NCIT:C4031
UBERON:0035313	posterior wall of laryngopharynx	biolink:AnatomicalEntity	mondo			posterior wall of hypopharynx	http://purl.obolibrary.org/obo/UBERON_0035313		
UBERON:0011368	brachiocephalic muscle	biolink:AnatomicalEntity	mondo			brachiocephalicus	http://purl.obolibrary.org/obo/UBERON_0011368	The brachiocephalicus is a long and flat, complex of muscles that extends from the lower half of the humeral shaft to the head and neck. The muscle divides into two parts at the clavicular intersection. This is also the point of origin for all the muscles that make up the brachiocephalicus. This point is situated just cranial to the shoulder. The two main sections are the cleidobrachialis which is distal to the clavicular intersection and the cleidocephalicus which extends proximally to the clavivular intersection. The cleidocephalicus can also be divided into the pars cervicalis, which inserts on the broad aponeurosis, over the fibrous raphe of the cranial half of the neck. The other part, the pars mastoideus inserts on the mastoid process of the temporal bone via a strong tendon. The cleidobrachialis extends distally from the clavicular intersection and inserts on the cranial edge of the distal half of the humerus. The tendon that inserts the cleidobrachialis lies between the brachialis muscle and the biceps brachii. As a result of the brachiocephalicus spanning a large region it has the ability to provide a number of actions. These include extending the shoulder joint, protracts the limb, provides lateral movement of the head and allows the neck to be depressed.	
MONDO:0014732	hypomyelinating leukodystrophy 12	biolink:Disease	mondo	Orphanet:466934|UMLS:C4225247|DOID:0060796|OMIM:616683	ordo_disease	VPS11-related autosomal recessive hypomyelinating leukoencephalopathy|leukodystrophy, hypomyelinating, type 12|hypomyelinating leukodystrophy type 12|VPS11-related autosomal recessive hypomyelinating leukodystrophy|VPS11 leukodystrophy|leukodystrophy, hypomyelinating, 12; HLD12|HLD12|leukodystrophy caused by mutation in VPS11|leukodystrophy, hypomyelinating, 12	http://purl.obolibrary.org/obo/MONDO_0014732	Any leukodystrophy in which the cause of the disease is a mutation in the VPS11 gene.	DOID:0060796|http://identifiers.org/omim/616683|UMLS:C4225247|ORPHA:466934
MONDO:0014731	seizures-scoliosis-macrocephaly syndrome	biolink:Disease	mondo	OMIM:616682|GARD:0009960|Orphanet:466926|UMLS:C4225248	ordo_disease	SSM syndrome|seizures, scoliosis, and macrocephaly syndrome|SSMS|seizures, scoliosis, and macrocephaly syndrome; SSMS	http://purl.obolibrary.org/obo/MONDO_0014731	Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.	http://identifiers.org/omim/616682|ORPHA:466926|UMLS:C4225248
MONDO:0014730	microcephaly 16, primary, autosomal recessive	biolink:Disease	mondo	OMIM:616681|UMLS:C4225249|DOID:0070289		microcephaly 16, primary, autosomal recessive|MCPH16|microcephaly 16, primary, autosomal recessive; MCPH16	http://purl.obolibrary.org/obo/MONDO_0014730		http://identifiers.org/omim/616681|DOID:0070289|UMLS:C4225249
UBERON:0035307	branch of vertebral artery	biolink:AnatomicalEntity	mondo			vertebral arterial branch	http://purl.obolibrary.org/obo/UBERON_0035307		
MONDO:0014736	Charcot-Marie-Tooth disease axonal type 2Z	biolink:Disease	mondo	UMLS:C4225243|Orphanet:466768|OMIM:616688|DOID:0110181	ordo_disease	Charcot-Marie-Tooth disease, axonal, type 2z|autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z|Charcot-Marie-Tooth disease caused by mutation in MORC2|autosomal dominant Charcot-Marie-Tooth disease type 2Z|CMT2Z|Charcot-Marie-Tooth neuropathy type 2Z|Charcot-Marie-Tooth disease, axonal, type 2Z; CMT2Z|Charcot-Marie-Tooth neuropathy, type 2Z|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Z|MORC2 Charcot-Marie-Tooth disease|autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation	http://purl.obolibrary.org/obo/MONDO_0014736	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the MORC2 gene.	DOID:0110181|http://identifiers.org/omim/616688|ORPHA:466768|UMLS:C4225243
MONDO:0014735	Charcot-Marie-Tooth disease type 2Y	biolink:Disease	mondo	UMLS:C4225244|OMIM:616687|DOID:0110168|ICD10:G60.0|Orphanet:435387	ordo_disease	Charcot-Marie-Tooth disease, axonal, type 2y|CMT2Y|Charcot-Marie-Tooth disease, axonal, type 2Y; CMT2Y|autosomal dominant axonal Charcot-Marie-Tooth type 2Y|Charcot-Marie-Tooth neuropathy, type 2Y|autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation|autosomal dominant Charcot-Marie-Tooth disease type 2Y|CMT2 due to VCP mutation|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Y|Charcot-Marie-Tooth disease type 2 caused by mutation in VCP|Charcot-Marie-Tooth neuropathy type 2Y|VCP Charcot-Marie-Tooth disease type 2	http://purl.obolibrary.org/obo/MONDO_0014735	Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the VCP gene.	DOID:0110168|http://identifiers.org/omim/616687|UMLS:C4225244|ORPHA:435387
MONDO:0014734	epilepsy, idiopathic generalized, susceptibility to, 14	biolink:Disease	mondo	DOID:0111315|OMIM:616685	predisposition	EIG14|epilepsy, idiopathic generalized, susceptibility to, 14|epilepsy, idiopathic generalized, susceptibility to, type 14|susceptibility to idiopathic generalized epilepsy 14|epilepsy, idiopathic generalized, susceptibility to, 14; EIG14	http://purl.obolibrary.org/obo/MONDO_0014734		http://identifiers.org/omim/616685|DOID:0111315
MONDO:0014733	Charcot-Marie-Tooth disease type 4K	biolink:Disease	mondo	Orphanet:391351|ICD10:G60.0|SCTID:765047006|OMIM:616684|DOID:0110187|UMLS:C4225246	ordo_disease	autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K|Charcot-Marie-Tooth disease type 4 caused by mutation in SURF1|SURF1 Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease, type 4K; CMT4K|SURF1-related severe demyelinating Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4K|Charcot-Marie-Tooth disease, type 4k|SURF1-related Charcot-Marie-Tooth disease type 4|CMT4K|SURF1-related CMT4|autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K|Charcot-Marie-Tooth disease type 4K|Charcot-Marie-Tooth neuropathy, demyelinating, autosomal recessive, type 4K	http://purl.obolibrary.org/obo/MONDO_0014733	SURF1-related Charcot-Marie-Tooth disease type 4 (CMT4K) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).	http://identifiers.org/omim/616684|UMLS:C4225246|ORPHA:391351|SNOMEDCT:765047006|DOID:0110187
MONDO:0002758	vulva verrucous carcinoma	biolink:Disease	mondo	DOID:3740|UMLS:C1336983|NCIT:C6383		verrucous carcinoma of vulva|vulvar verrucous carcinoma|mammalian vulva verrucous carcinoma|verrucous carcinoma of the vulva	http://purl.obolibrary.org/obo/MONDO_0002758	A highly differentiated squamous cell carcinoma that arises from the vulva. It is characterized by the presence of a warty and hyperkeratinized surface, malignant cells with abundant eosinophilic cytoplasm, minimal cytologic atypia, and absence or rarity of mitotic figures. The tumor infiltrates the underlying stroma with a pushing border.	NCIT:C6383|DOID:3740|UMLS:C1336983
MONDO:0002759	bladder verrucous carcinoma	biolink:Disease	mondo	DOID:3741|NCIT:C39832|UMLS:C1511208		urinary bladder verrucous carcinoma|bladder verrucous carcinoma|bladder verrucous squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002759	A verrucous carcinoma that involves the urinary bladder.	UMLS:C1511208|DOID:3741|NCIT:C39832
GO:0002863	positive regulation of inflammatory response to antigenic stimulus	biolink:OntologyClass	mondo			stimulation of inflammatory response to antigenic stimulus|upregulation of inflammatory response to antigenic stimulus|up-regulation of inflammatory response to antigenic stimulus|up regulation of inflammatory response to antigenic stimulus|activation of inflammatory response to antigenic stimulus	http://purl.obolibrary.org/obo/GO_0002863	Any process that activates or increases the frequency, rate, or extent of an inflammatory response to an antigenic stimulus.	
GO:0002864	regulation of acute inflammatory response to antigenic stimulus	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002864	Any process that modulates the frequency, rate, or extent of an acute inflammatory response to an antigenic stimulus.	
GO:0002865	negative regulation of acute inflammatory response to antigenic stimulus	biolink:OntologyClass	mondo			down regulation of acute inflammatory response to antigenic stimulus|inhibition of acute inflammatory response to antigenic stimulus|downregulation of acute inflammatory response to antigenic stimulus|down-regulation of acute inflammatory response to antigenic stimulus	http://purl.obolibrary.org/obo/GO_0002865	Any process that stops, prevents, or reduces the frequency, rate, or extent of an acute inflammatory response to an antigenic stimulus.	
UBERON:0001949	gingival epithelium	biolink:AnatomicalEntity	mondo			epithelium of gingiva|epithelial tissue of gingiva|gingiva epithelial tissue|gingiva epithelium	http://purl.obolibrary.org/obo/UBERON_0001949	A stratified squamous epithelium consisting of a basal layer; it is keratinized or parakeratinized[BTO].	
GO:0002866	positive regulation of acute inflammatory response to antigenic stimulus	biolink:OntologyClass	mondo			up-regulation of acute inflammatory response to antigenic stimulus|up regulation of acute inflammatory response to antigenic stimulus|activation of acute inflammatory response to antigenic stimulus|stimulation of acute inflammatory response to antigenic stimulus|upregulation of acute inflammatory response to antigenic stimulus	http://purl.obolibrary.org/obo/GO_0002866	Any process that activates or increases the frequency, rate, or extent of an acute inflammatory response to an antigenic stimulus.	
UBERON:0001948	regional part of spinal cord	biolink:AnatomicalEntity	mondo			spinal cord part	http://purl.obolibrary.org/obo/UBERON_0001948	A multi-tissue structure that is part of a spinal cord.	
UBERON:0001943	midbrain tegmentum	biolink:AnatomicalEntity	mondo			MTg|tegmentum mesencephali|tegmentum of midbrain|tegmentum mesencephalicum|tegmentum|mesencephalic tegmentum	http://purl.obolibrary.org/obo/UBERON_0001943	Ventral part of the midbrain, separated from the hindbrain by the isthmus[ISBN:0471888893]. Subdivision of the midbrain lying anterior to the tectum and posterior to the substantia nigra and cerebral peduncle[FMA] The part of the midbrain extending from the substantia nigra to the cerebral aqueduct in a horizontal section of the midbrain. It forms the floor of the midbrain that surrounds the cerebral aqueduct[WP].	
GO:0002861	regulation of inflammatory response to antigenic stimulus	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002861	Any process that modulates the frequency, rate, or extent of an inflammatory response to an antigenic stimulus.	
GO:0002862	negative regulation of inflammatory response to antigenic stimulus	biolink:OntologyClass	mondo			down-regulation of inflammatory response to antigenic stimulus|down regulation of inflammatory response to antigenic stimulus|inhibition of inflammatory response to antigenic stimulus|downregulation of inflammatory response to antigenic stimulus	http://purl.obolibrary.org/obo/GO_0002862	Any process that stops, prevents, or reduces the frequency, rate, or extent of an inflammatory response to an antigenic stimulus.	
HGNC:8806	PDHA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8806		
HGNC:8808	PDHB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8808		
UBERON:0001950	neocortex	biolink:AnatomicalEntity	mondo			neocortex (isocortex)|iso-cortex|homogenetic cortex|nucleus hypoglossalis|nonolfactory cortex|isocortex|homotypical cortex|cerebral neocortex|isocortex (sensu lato)|neopallium|neopallial cortex	http://purl.obolibrary.org/obo/UBERON_0001950	An area of cerebral cortex defined on the basis of cytoarchitecture that have six layers. Starting from the cortical surface the layers are: molecular layer (I), external granular layer (II), external pyramidal layer (III), internal granular layer (IV), internal pyramidal layer (V), and multiform layer (VI). Neocortex is most prominent in the frontal lobe, the parietal lobe, the temporal lobe and the occipital lobe, less so in the cingulate gyrus, the parahippocampal gyrus and the insula. It is composed of two subdivisions: true isocortex and proisocortex (Carpenter-83)(NN)	
UBERON_CORE:transitively_connected_to	transitively_connected to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/uberon/core#transitively_connected_to		
UBERON:0001952	epithelium of oropharynx	biolink:AnatomicalEntity	mondo			oropharyngeal epithelium|oropharynx epithelium|oropharynx epithelial tissue	http://purl.obolibrary.org/obo/UBERON_0001952	An epithelium that is part of a oropharynx [Automatically generated definition].	
UBERON:0001951	epithelium of nasopharynx	biolink:AnatomicalEntity	mondo			nasopharynx epithelial tissue|nasal part of pharynx epithelial tissue|rhinopharynx epithelium|rhinopharynx epithelial tissue|nasal part of pharynx epithelium|nasopharyngeal epithelium|nasopharynx epithelium|epithelial tissue of rhinopharynx|epithelial tissue of nasopharynx|epithelium of nasal part of pharynx|epithelium of rhinopharynx|epithelial tissue of nasal part of pharynx	http://purl.obolibrary.org/obo/UBERON_0001951	An epithelium that is part of a nasopharynx [Automatically generated definition].	
GO:0048199	vesicle targeting, to, from or within Golgi	biolink:OntologyClass	mondo			Golgi vesicle targeting|dictyosome vesicle targeting|vesicle targeting, to, from or within dictyosome	http://purl.obolibrary.org/obo/GO_0048199	The process in which vesicles are directed to specific destination membranes during transport to, from or within the Golgi apparatus; mediated by the addition of specific coat proteins, including COPI and COPII proteins and clathrin, to the membrane during vesicle formation.	
GO:0048193	Golgi vesicle transport	biolink:OntologyClass	mondo			Golgi-derived vesicle transport	http://purl.obolibrary.org/obo/GO_0048193	The directed movement of substances into, out of or within the Golgi apparatus, mediated by vesicles.	
HGNC:8818	SLC26A4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8818		
HGNC:8819	PDXK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8819		
HGNC:8820	PDYN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8820		
HGNC:8824	SERPINF1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8824		
ENVO:01001700	Antarctic front	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001700	A polar front between the deep, cold Antarctic air and the shallower, warmer polar air of southern latitudes on Earth.	
UBERON:0001913	milk	biolink:AnatomicalEntity	mondo			mammary gland milk|mammal milk|milk	http://purl.obolibrary.org/obo/UBERON_0001913	An emulsion of fat globules within a fluid that is secreted by the mammary gland during lactation.	
UBERON:0001916	endothelium of arteriole	biolink:AnatomicalEntity	mondo			arteriole endothelium	http://purl.obolibrary.org/obo/UBERON_0001916	An endothelium that is part of an arteriole [Automatically generated definition].	
UBERON:0001915	endothelium of capillary	biolink:AnatomicalEntity	mondo			blood capillary endothelium|capillary vessel endothelium|capillary endothelium|endothelium of capillary vessel|endothelium of blood capillary	http://purl.obolibrary.org/obo/UBERON_0001915	An endothelium that is part of a capillary [Automatically generated definition].	
UBERON:0001912	lobule of mammary gland	biolink:AnatomicalEntity	mondo			mammary gland lobule|lactiferous acinus|acinus of mammary gland|lobule of lactiferous gland|lactiferous lobule|mammary acinus|lactiferous gland lobule|lobule of mammary gland	http://purl.obolibrary.org/obo/UBERON_0001912	Organ component of the mammary gland which consists of an aggregate of mammary alveoli that communicate with a lobular lactiferous duct.[FMA]	
UBERON:0001911	mammary gland	biolink:AnatomicalEntity	mondo			milk patch|mamma|glandula mammaria|mammae|lobe of breast|lobe of mammary gland|Brustdruese|dug|glandula mammaria|lactiferous gland	http://purl.obolibrary.org/obo/UBERON_0001911	A specialized accessory gland of the skin of mammals that secretes milk. The gland is typically only developed in females, and regresses in males.	
CHEBI:26375	pterins	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_26375		
UBERON:0001918	endothelium of venule	biolink:AnatomicalEntity	mondo			venule endothelium	http://purl.obolibrary.org/obo/UBERON_0001918	An endothelium that is part of a venule [Automatically generated definition].	
UBERON:0001917	endothelium of artery	biolink:AnatomicalEntity	mondo			artery endothelium|arterial endothelium	http://purl.obolibrary.org/obo/UBERON_0001917	An endothelium that is part of an artery [Automatically generated definition].	
UBERON:0001919	endothelium of vein	biolink:AnatomicalEntity	mondo			venous endothelium|vein endothelium|veinous endothelium	http://purl.obolibrary.org/obo/UBERON_0001919	An endothelium that is part of a vein [Automatically generated definition].	
NCBITaxon:1335626	Middle East respiratory syndrome-related coronavirus	organism taxon	mondo	GC_ID:1		MERS virus|MERS-CoV|Middle East respiratory syndrome coronavirus|MERS|Middle East Respiratory Syndrome Coronavirus (MERS-CoV)|MERS coronavirus	http://purl.obolibrary.org/obo/NCBITaxon_1335626		
CHEBI:26373	pteridines	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_26373		
GO:0061178	regulation of insulin secretion involved in cellular response to glucose stimulus	biolink:OntologyClass	mondo			regulation of insulin secretion in response to glucose	http://purl.obolibrary.org/obo/GO_0061178	Any process that modulates the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose.	
GO:0061179	negative regulation of insulin secretion involved in cellular response to glucose stimulus	biolink:OntologyClass	mondo			negative regulation of insulin secretion in response to glucose|negative regulation of insulin secretion involved in cellular response to glucose	http://purl.obolibrary.org/obo/GO_0061179	Any process that decreases the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose.	
HGNC:8847	PER3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8847		
HGNC:8846	PER2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8846		
HGNC:8840	PEPD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8840		
GO:0002820	negative regulation of adaptive immune response	biolink:OntologyClass	mondo			down regulation of adaptive immune response|inhibition of adaptive immune response|down-regulation of adaptive immune response|downregulation of adaptive immune response	http://purl.obolibrary.org/obo/GO_0002820	Any process that stops, prevents, or reduces the frequency, rate, or extent of an adaptive immune response.	
GO:0002821	positive regulation of adaptive immune response	biolink:OntologyClass	mondo			upregulation of adaptive immune response|stimulation of adaptive immune response|up regulation of adaptive immune response|up-regulation of adaptive immune response|activation of adaptive immune response	http://purl.obolibrary.org/obo/GO_0002821	Any process that activates or increases the frequency, rate, or extent of an adaptive immune response.	
GO:0002822	regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002822	Any process that modulates the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata.	
UBERON:0001987	placenta	biolink:AnatomicalEntity	mondo			allantoic placenta|eutherian placenta	http://purl.obolibrary.org/obo/UBERON_0001987	organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin[GO]. The fetal portion of the placenta is known as the villous chorion. The maternal portion is known as the decidua basalis. The two portions are held together by anchoring villi that are anchored to the decidua basalis by the cytotrophoblastic shell.	
UBERON:0001986	endothelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0001986	A layer of epithelium that lines the heart, blood vessels (endothelium, vascular), lymph vessels (endothelium, lymphatic), and the serous cavities of the body[MESH]. Simple squamous epithelium which lines blood and lymphatic vessels and the heart[FMA]	
UBERON:0001988	feces	biolink:AnatomicalEntity	mondo			ordure|portion of feces|matières fécales@fr|fecal matter|portion of fecal matter|portion of excrement|spoor|merde@fr|portion of dung|dung|partie de la merde@fr|droppings|excrement|teil der fäkalien@de|frass|stool|guano|portion of guano|fewmet|spraint|portion of scat|scat|fecal material|portion of fecal material|portion of faeces|faeces|piece of shit|portionem cacas|porción de mierda@es|excreta|cow dung|cow pat	http://purl.obolibrary.org/obo/UBERON_0001988	Portion of semisolid bodily waste discharged through the anus[MW,modified]	
CHEBI:26348	prosthetic group	biolink:ChemicalSubstance	mondo			groupe prosthetique|prosthetic group|prosthetic groups	http://purl.obolibrary.org/obo/CHEBI_26348	A tightly bound, specific nonpolypeptide unit in a protein determining and involved in its biological activity.	
HGNC:8854	PEX12	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8854		
HGNC:8853	PEX11B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8853		
HGNC:8856	PEX14	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8856		
HGNC:8855	PEX13	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8855		
HGNC:8858	PEX3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8858		
HGNC:8857	PEX16	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8857		
HGNC:8859	PEX6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8859		
GO:0002827	positive regulation of T-helper 1 type immune response	biolink:OntologyClass	mondo			up regulation of T-helper 1 type immune response|activation of T-helper 1 type immune response|stimulation of T-helper 1 type immune response|upregulation of T-helper 1 type immune response|up-regulation of T-helper 1 type immune response	http://purl.obolibrary.org/obo/GO_0002827	Any process that activates or increases the frequency, rate, or extent of a T-helper 1 type immune response.	
UBERON:0001994	hyaline cartilage tissue	biolink:AnatomicalEntity	mondo			chondroid cartilage|hyaline cartilage	http://purl.obolibrary.org/obo/UBERON_0001994	Cartilage tissue primarily composed of type II collagen (thin fibrils) and a glassy appearance.	
GO:0002828	regulation of type 2 immune response	biolink:OntologyClass	mondo			regulation of T-helper 2 type immune response|regulation of Th2 immune response	http://purl.obolibrary.org/obo/GO_0002828	Any process that modulates the frequency, rate, or extent of a type 2 immune response.	
UBERON:0001996	elastic cartilage tissue	biolink:AnatomicalEntity	mondo			yellow elastic cartilage tissue|yellow cartilage|reticular cartilage|yellow elastic cartilage|elastic cartilage tissue|elastic cartilage	http://purl.obolibrary.org/obo/UBERON_0001996	Cartilage tissue that is flexible and contains abundant elastic fibers.	
GO:0002829	negative regulation of type 2 immune response	biolink:OntologyClass	mondo			inhibition of type 2 immune response|down-regulation of type 2 immune response|negative regulation of T-helper 2 type immune response|negative regulation of Th2 immune response|downregulation of type 2 immune response|down regulation of type 2 immune response	http://purl.obolibrary.org/obo/GO_0002829	Any process that stops, prevents, or reduces the frequency, rate, or extent of a type 2 immune response.	
UBERON:0001995	fibrocartilage	biolink:AnatomicalEntity	mondo			fibrocartilage tissue|stratified cartilage tissue	http://purl.obolibrary.org/obo/UBERON_0001995	Cartilage tissue intermediate between hyaline cartilage and dense connective tissue; contains of abundant collagen fibers; chondrocytes often arranged in columns.	
HGNC:8850	PEX1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8850		
GO:0002823	negative regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002823	Any process that stops, prevents, or reduces the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata.	
CHEBI:38323	cholinergic drug	biolink:ChemicalSubstance	mondo			cholinomimetic|cholinergic agent|cholinergic drugs	http://purl.obolibrary.org/obo/CHEBI_38323	Any drug used for its actions on cholinergic systems. Included here are agonists and antagonists, drugs that affect the life cycle of acetylcholine, and drugs that affect the survival of cholinergic neurons.	
GO:0002824	positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002824	Any process that activates or increases the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata.	
GO:0097159	organic cyclic compound binding	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0097159	Interacting selectively and non-covalently with an organic cyclic compound, any molecular entity that contains carbon arranged in a cyclic molecular structure.	
GO:0002825	regulation of T-helper 1 type immune response	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002825	Any process that modulates the frequency, rate, or extent of a T-helper 1 type immune response.	
HGNC:8851	PEX10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8851		
GO:0002826	negative regulation of T-helper 1 type immune response	biolink:OntologyClass	mondo			down-regulation of T-helper 1 type immune response|down regulation of T-helper 1 type immune response|inhibition of T-helper 1 type immune response|downregulation of T-helper 1 type immune response	http://purl.obolibrary.org/obo/GO_0002826	Any process that stops, prevents, or reduces the frequency, rate, or extent of a T-helper 1 type immune response.	
GO:0002830	positive regulation of type 2 immune response	biolink:OntologyClass	mondo			up regulation of type 2 immune response|stimulation of type 2 immune response|up-regulation of type 2 immune response|activation of type 2 immune response|positive regulation of T-helper 2 type immune response|upregulation of type 2 immune response|positive regulation of Th2 immune response	http://purl.obolibrary.org/obo/GO_0002830	Any process that activates or increases the frequency, rate, or extent of a type 2 immune response.	
UBERON:0001979	venule	biolink:AnatomicalEntity	mondo			venula	http://purl.obolibrary.org/obo/UBERON_0001979	One of the minute vessels that collect deoxygenated blood from the capillary plexuses returns it to the veins	
MONDO:0002700	obsolete epithelioid trophoblastic tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002700		
GO:0002831	regulation of response to biotic stimulus	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002831	Any process that modulates the frequency, rate, or extent of a response to biotic stimulus.	
MONDO:0002701	ovarian mucinous cystadenocarcinoma	biolink:Disease	mondo	DOID:3604|EFO:1001963|NCIT:C4026|SCTID:254851009|UMLS:C0279665		ovarian mucinous cystadenocarcinoma|mucinous cystadenocarcinoma of the ovary|mucinous cystadenocarcinoma of ovary|ovary mucinous cystadenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002701	An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis.	UMLS:C0279665|SNOMEDCT:254851009|DOID:3604|NCIT:C4026
GO:0002832	negative regulation of response to biotic stimulus	biolink:OntologyClass	mondo			down-regulation of response to biotic stimulus|down regulation of response to biotic stimulus|inhibition of response to biotic stimulus|downregulation of response to biotic stimulus	http://purl.obolibrary.org/obo/GO_0002832	Any process that stops, prevents, or reduces the frequency, rate, or extent of a response to biotic stimulus.	
GO:0002833	positive regulation of response to biotic stimulus	biolink:OntologyClass	mondo			activation of response to biotic stimulus|stimulation of response to biotic stimulus|upregulation of response to biotic stimulus|up-regulation of response to biotic stimulus|up regulation of response to biotic stimulus	http://purl.obolibrary.org/obo/GO_0002833	Any process that activates or increases the frequency, rate, or extent of a response to biotic stimulus.	
MONDO:0002702	ovarian cystadenocarcinoma	biolink:Disease	mondo	EFO:1001962|NCIT:C5228|SCTID:314191009|UMLS:C1096638|DOID:3605		cystadenocarcinoma of the ovary|cystadenocarcinoma of ovary|ovarian cystadenocarcinoma|ovary cystadenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002702	An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma.	SNOMEDCT:314191009|UMLS:C1096638|DOID:3605|NCIT:C5228
UBERON:0001976	epithelium of esophagus	biolink:AnatomicalEntity	mondo			epithelial tissue of oesophagus|epithelial tissue of gullet|epithelium of oesophagus|epithelium of gullet|gullet epithelium|esophagus epithelium|epithelial tissue of esophagus|oesophagus epithelial tissue|esophageal epithelium|gullet epithelial tissue|esophagus epithelial tissue|oesophagus epithelium	http://purl.obolibrary.org/obo/UBERON_0001976	the epithelial layer that lines the luminal space of the esophagus	
UBERON:0001975	serosa of esophagus	biolink:AnatomicalEntity	mondo			gullet serous membrane|esophagus serous membrane|serosa of gullet|esophagus serosa|gullet serosa|serous membrane of esophagus|serous membrane of oesophagus|serosa of abdominal part of esophagus|tunica serosa oesophageae|serous membrane of gullet|oesophagus serosa|serous coat of oesophagus|oesophagus serous membrane|serosa of oesophagus	http://purl.obolibrary.org/obo/UBERON_0001975	A serous membrane that is part of a esophagus [Automatically generated definition].	
UBERON:0001978	parenchyma of pancreas	biolink:AnatomicalEntity	mondo			pancreas parenchyma|pancreatic parenchyma	http://purl.obolibrary.org/obo/UBERON_0001978		
UBERON:0011300	gray matter of telencephalon	biolink:AnatomicalEntity	mondo			predominantly gray regional part of telencephalon	http://purl.obolibrary.org/obo/UBERON_0011300	A portion of gray matter that is part of a telencephalon.	
CHEBI:38338	aminopyrimidine	biolink:ChemicalSubstance	mondo			aminopyrimidines	http://purl.obolibrary.org/obo/CHEBI_38338	A member of the class of  pyrimidines that is pyrimidine substituted by at least one amino group and its derivatives.	
CHEBI:38337	pyrimidone	biolink:ChemicalSubstance	mondo			pyrimidones	http://purl.obolibrary.org/obo/CHEBI_38337	A pyrimidine carrying one or more oxo substituents.	
HGNC:8864	CFP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8864		
HGNC:6207	JUP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6207		
UBERON:0001982	capillary	biolink:AnatomicalEntity	mondo			blood capillary|capillary vessel	http://purl.obolibrary.org/obo/UBERON_0001982	Any of the smallest blood vessels connecting arterioles with venules.	
UBERON:0001985	corneal endothelium	biolink:AnatomicalEntity	mondo			endothelium of cornea|epithelium posterius corneae|cornea endothelium	http://purl.obolibrary.org/obo/UBERON_0001985	A monolayer of specialized, flattened, mitochondria-rich cells that lines the posterior surface of the cornea and faces the anterior chamber of the eye[WP].	
HGNC:8860	PEX7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8860		
UBERON:0001981	blood vessel	biolink:AnatomicalEntity	mondo			region of vascular tree organ|vas sanguineum|vascular tree organ region|vascular element	http://purl.obolibrary.org/obo/UBERON_0001981	A vessel through which blood circulates in the body.	
UBERON:0001980	arteriole	biolink:AnatomicalEntity	mondo			arteriola	http://purl.obolibrary.org/obo/UBERON_0001980	The smallest division of the artery located between the muscular arteries and the capillaries[GO].	
UBERON:0001969	blood plasma	biolink:AnatomicalEntity	mondo			plasma|portion of plasma|blood plasm|portion of blood plasma	http://purl.obolibrary.org/obo/UBERON_0001969	The liquid component of blood, in which erythrocytes are suspended.	
UBERON:0001968	semen	biolink:AnatomicalEntity	mondo			ejaculate|sperm	http://purl.obolibrary.org/obo/UBERON_0001968	Organism substance that is composed of sperm cells suspended in seminal fluid.	
HGNC:6215	KARS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6215		
HGNC:8877	PFKM	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8877		
HGNC:6217	KATNB1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6217		
HGNC:6218	KCNA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6218		
UBERON:0001972	submucosa of esophagus	biolink:AnatomicalEntity	mondo			tela submucosa esophagi|submucosa of esophagus|tela submucosa oesophageae|oesophagus submucosa|esophagus submucosa|gullet submucosa|submucous layer of esophagus|tela submucosa oesophagi|tela submucosa of esophagus|tela submucosa (oesophagus)|submucosa of oesophagus|submucosa of gullet|esophageal submucosa	http://purl.obolibrary.org/obo/UBERON_0001972	A submucosa that is part of a esophagus [Automatically generated definition].	
UBERON:0001971	gastric juice	biolink:AnatomicalEntity	mondo			stomach secretion|succus gastricus	http://purl.obolibrary.org/obo/UBERON_0001971	.	
UBERON:0001974	lamina propria of esophagus	biolink:AnatomicalEntity	mondo			lamina propria of oesophagus|esophagus lamina propria mucosae|gullet lamina propria mucosae|lamina propria of gullet|oesophagus lamina propria mucosae|lamina propria mucosa of oesophagus|gullet lamina propria|esophagus lamina propria|lamina propria mucosa of gullet|lamina propria mucosa of esophagus|oesophagus lamina propria|lamina propria mucosae of esophagus|lamina propria mucosae of oesophagus|esophageal lamina propria|oesophagus lamina propria mucosa|gullet lamina propria mucosa|lamina propria mucosae of gullet|esophagus lamina propria mucosa	http://purl.obolibrary.org/obo/UBERON_0001974	A lamina propria that is part of a esophagus [Automatically generated definition].	
HGNC:6210	CD82	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6210		
UBERON:0001970	bile	biolink:AnatomicalEntity	mondo			fel|gall	http://purl.obolibrary.org/obo/UBERON_0001970	vital aqueous secretion of the liver that is formed by hepatocytes and modified down stream by absorptive and secretory properties of the bile duct epithelium.	
HGNC:6211	ANOS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6211		
UBERON:0001958	terminal bronchiole epithelium	biolink:AnatomicalEntity	mondo			epithelium of bronchiolus terminalis|epithelium of terminal bronchiole|epithelial tissue of terminal bronchiole|bronchiolus terminalis epithelium|terminal bronchiole epithelium|terminal bronchiole epithelial tissue|bronchiolus terminalis epithelial tissue|epithelial tissue of bronchiolus terminalis	http://purl.obolibrary.org/obo/UBERON_0001958	An epithelium that lines a terminal bronchiole.	
UBERON:0001957	submucosa of bronchus	biolink:AnatomicalEntity	mondo			bronchi submucosa|bronchial trunk submucosa|submucous layer of bronchi|bronchus submucosa|bronchial submucosa|tela submucosa bronchi|submucosa of bronchi|submucosa of bronchial trunk	http://purl.obolibrary.org/obo/UBERON_0001957	A submucosa that is part of a bronchus [Automatically generated definition].	
UBERON:0001959	white pulp of spleen	biolink:AnatomicalEntity	mondo			pulpa alba|spleen white pulp|white pulp|splenic white pulp|noduli lymphoidei splenici	http://purl.obolibrary.org/obo/UBERON_0001959	the parenchymatous tissue of the spleen that surrounds splenic blood vessels, consists of compact masses of lymphatic cells and is where foreign material removed from the blood is used to initiate an immune reaction that results in the production of antibodies	
UBERON:0001954	Ammon's horn	biolink:AnatomicalEntity	mondo			Ammon's horn|hippocampus major|ammon horn|hippocampus proper|cornu ammonis|Ammon horn fields|ammon gyrus|Ammons horn|hippocampus proprius|hippocampus	http://purl.obolibrary.org/obo/UBERON_0001954	A part of the brain consisting of a three layered cortex located in the forebrain bordering the medial surface of the lateral ventricle. The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum.	
UBERON:0001956	cartilage of bronchus	biolink:AnatomicalEntity	mondo			bronchial cartilage ring|bronchi cartilage|bronchial trunk cartilage|cartilage of bronchi|cartilage of bronchial trunk|bronchus cartilage|bronchial cartilage|cartilagines bronchiales	http://purl.obolibrary.org/obo/UBERON_0001956	The hyaline cartilaginous structures that support the bronchi, present as irregular rings in the larger bronchi (and not as regular as in the trachea), and as small plates and islands in the smaller bronchi; as the branching continues through the bronchial tree, the amount of hyaline cartilage in the walls decreases until it is absent in the smallest bronchioles[MP].	
UBERON:0001955	epithelium of respiratory bronchiole	biolink:AnatomicalEntity	mondo			epithelium of bronchiolus respiratorius|epithelial tissue of bronchiolus respiratorius|respiratory bronchiole epithelial tissue|bronchiolus respiratorius epithelial tissue|bronchiolus respiratorius epithelium|respiratory bronchiole epithelium|epithelial tissue of respiratory bronchiole	http://purl.obolibrary.org/obo/UBERON_0001955	An epithelium that is part of a respiratory bronchiole [Automatically generated definition].	
HGNC:6224	KCNA5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6224		
HGNC:8889	PGAM2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8889		
CHEBI:38313	diazines	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_38313	Any organic heterocyclic compound containing a benzene ring in which two of the C-H fragments have been replaced by isolobal nitrogens (the diazine parent structure).	
UBERON:0001961	mucosa-associated lymphoid tissue	biolink:AnatomicalEntity	mondo			MALT|mucosal-associated lymphoid tissue|mucosa associated lymphatic tissue|mucosa associated lymphoid tissue|mucosal-associated lymphatic tissue|epithelio-lymphoid tissue|mucosa-associated lymphoid tissue	http://purl.obolibrary.org/obo/UBERON_0001961	diffuse system of small concentrations of lymphoid tissue found in various sites of the body such as the gastrointestinal tract, thyroid, breast, lung, salivary glands, eye, and skin[WP]. Mucosal-associated lymphoid tissue is typically found as nodules associated with mucosal epithelia with distinct internal structures including B- and T-zones for the activation of lymphocytes[GO].	
UBERON:0001963	bronchial-associated lymphoid tissue	biolink:AnatomicalEntity	mondo			BALT|bronchus associated lymphoid tissue	http://purl.obolibrary.org/obo/UBERON_0001963	A diffuse collection of lymphpoid cells that participate in airway immune responses	
GO:0002818		biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002818		
HGNC:8881	PFN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8881		
UBERON:0001962	gut-associated lymphoid tissue	biolink:AnatomicalEntity	mondo			gut associated lymphoid tissue|GALT	http://purl.obolibrary.org/obo/UBERON_0001962	Mucosa-associated lymphoid tissue in digestive tract. includes Peyer's patches, appendix, and solitary lymph nodules[GO].	
GO:0002819	regulation of adaptive immune response	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002819	Any process that modulates the frequency, rate, or extent of an adaptive immune response.	
HGNC:6220	KCNA2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6220		
HGNC:8885	PGA3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8885		
ENVO:01001646	amorphous solid	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001646	A solid material which does not have a regularly organised internal structure.	
ENVO:01001645	gaseous part of an atmosphere	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001645	That part of an atmosphere which is composed of gaseous material.	
GO:1903509	liposaccharide metabolic process	biolink:OntologyClass	mondo			liposaccharide metabolism	http://purl.obolibrary.org/obo/GO_1903509	The chemical reactions and pathways involving liposaccharide.	
GO:1903508	positive regulation of nucleic acid-templated transcription	biolink:OntologyClass	mondo			up regulation of nucleic acid-templated transcription|up-regulation of nucleic acid-templated transcription|activation of nucleic acid-templated transcription|upregulation of nucleic acid-templated transcription	http://purl.obolibrary.org/obo/GO_1903508	Any process that activates or increases the frequency, rate or extent of nucleic acid-templated transcription.	
GO:1903507	negative regulation of nucleic acid-templated transcription	biolink:OntologyClass	mondo			downregulation of nucleic acid-templated transcription|down regulation of nucleic acid-templated transcription|inhibition of nucleic acid-templated transcription|down-regulation of nucleic acid-templated transcription	http://purl.obolibrary.org/obo/GO_1903507	Any process that stops, prevents or reduces the frequency, rate or extent of nucleic acid-templated transcription.	
GO:1903506	regulation of nucleic acid-templated transcription	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1903506	Any process that modulates the frequency, rate or extent of nucleic acid-templated transcription.	
CL:0011026	progenitor cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0011026	A precursor cell that has a tendency to differentiate into a specific type of cell. They are descendants of stem cells, only they are more constrained in their differentiation potential or capacity for self-renewal, and are often more limited in both senses.	
CHEBI:63299	carbohydrate derivative	biolink:ChemicalSubstance	mondo			derivatized carbohydrates|derivatized carbohydrate|carbohydrate derivatives|derivatised carbohydrates|derivatised carbohydrate	http://purl.obolibrary.org/obo/CHEBI_63299	Any organooxygen compound derived from a carbohydrate by replacement of one or more hydroxy group(s) by an amino group, a thiol group or similar heteroatomic groups. The term also includes derivatives of these compounds.	
GO:0048103	somatic stem cell division	biolink:OntologyClass	mondo			somatic stem cell renewal	http://purl.obolibrary.org/obo/GO_0048103	The self-renewing division of a somatic stem cell, a stem cell that can give rise to cell types of the body other than those of the germ-line.	
NCBITaxon:1264872	Basidiobolales	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1264872		
ENVO:01001639	formation of a solid aerosol from liquid material in an atmosphere	biolink:OntologyClass	mondo			formation of solid particles from liquid material in an atmosphere|formation of a solid aerosol in the atmosphere|formation of a solid aerosol in an atmosphere|atmospheric formation of a solid aerosol	http://purl.obolibrary.org/obo/ENVO_01001639	A process during which microscopic solid particulates are formed from liquid materials in an atmosphere.	
CL:0011012	neural crest cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0011012	A cell of the neural crest. Neural crest cells are multipotent. Premigratory neural crest cells are found at the neural plate boarder, some of which will undergo ectomesynchymal transition and delamination to form migratory neural crest cells.	
GO:1903510	mucopolysaccharide metabolic process	biolink:OntologyClass	mondo			mucopolysaccharide metabolism	http://purl.obolibrary.org/obo/GO_1903510	The chemical reactions and pathways involving mucopolysaccharide.	
MONDO:0024182	dry beriberi	biolink:Disease	mondo	DOID:0070318|ICD10CM:E51.11		endemic neuritis	http://purl.obolibrary.org/obo/MONDO_0024182		DOID:0070318
GO:1903524	positive regulation of blood circulation	biolink:OntologyClass	mondo			upregulation of hemolymph circulation|up-regulation of blood circulation|activation of hemolymph circulation|up regulation of blood circulation|activation of blood circulation|up-regulation of hemolymph circulation|up regulation of hemolymph circulation|upregulation of blood circulation|positive regulation of hemolymph circulation	http://purl.obolibrary.org/obo/GO_1903524	Any process that activates or increases the frequency, rate or extent of blood circulation.	
GO:1903523	negative regulation of blood circulation	biolink:OntologyClass	mondo			down regulation of blood circulation|negative regulation of hemolymph circulation|down-regulation of hemolymph circulation|inhibition of blood circulation|downregulation of blood circulation|down regulation of hemolymph circulation|downregulation of hemolymph circulation|down-regulation of blood circulation|inhibition of hemolymph circulation	http://purl.obolibrary.org/obo/GO_1903523	Any process that stops, prevents or reduces the frequency, rate or extent of blood circulation.	
MONDO:0024183	wet beriberi	biolink:Disease	mondo	DOID:0070317|ICD10CM:E51.12			http://purl.obolibrary.org/obo/MONDO_0024183		DOID:0070317
HGNC:25382	TMEM126A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25382		
GO:1903522	regulation of blood circulation	biolink:OntologyClass	mondo			regulation of hemolymph circulation	http://purl.obolibrary.org/obo/GO_1903522	Any process that modulates the frequency, rate or extent of blood circulation.	
NCBITaxon:1264859	Entomophthoromycotina	organism taxon	mondo	PMID:27738200|PMID:17572334|PMID:17051209|GC_ID:1		Zygomycota|Entomophthoromycota	http://purl.obolibrary.org/obo/NCBITaxon_1264859		
GO:0051784	negative regulation of nuclear division	biolink:OntologyClass	mondo			inhibition of nuclear division|down-regulation of nuclear division|downregulation of nuclear division|down regulation of nuclear division	http://purl.obolibrary.org/obo/GO_0051784	Any process that stops, prevents, or reduces the frequency, rate or extent of nuclear division, the partitioning of the nucleus and its genetic information.	
GO:0051785	positive regulation of nuclear division	biolink:OntologyClass	mondo			upregulation of nuclear division|stimulation of nuclear division|up regulation of nuclear division|up-regulation of nuclear division|activation of nuclear division	http://purl.obolibrary.org/obo/GO_0051785	Any process that activates or increases the frequency, rate or extent of nuclear division, the partitioning of the nucleus and its genetic information.	
MONDO:0012190	nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome	biolink:Disease	mondo	UMLS:C1836823|MESH:C563798|Orphanet:300333|OMIM:609057	ordo_disease	nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome|nephropathy with pretibial epidermolysis bullosa and deafness	http://purl.obolibrary.org/obo/MONDO_0012190		http://identifiers.org/omim/609057|ORPHA:300333|MESH:C563798|UMLS:C1836823
ENVO:01001652	atmospheric aerosol	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001652	An aerosol that is suspended in an atmosphere.	
ENVO:01001654	aerosol formation process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001654	A material transformation process during which solid or liquid particles form and are suspended in a mass of air, thus creating an aerosol.	
MONDO:0024171	radio-digito-facial dysplasia	biolink:Disease	mondo	GARD:0004629	gard_rare	Van Goethem syndrome	http://purl.obolibrary.org/obo/MONDO_0024171		
HGNC:25396	FREM2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25396		
GO:1903532	positive regulation of secretion by cell	biolink:OntologyClass	mondo			positive regulation of cellular secretion|up regulation of secretion by cell|up regulation of cellular secretion|activation of secretion by cell|up-regulation of cellular secretion|activation of cellular secretion|upregulation of secretion by cell|upregulation of cellular secretion|up-regulation of secretion by cell	http://purl.obolibrary.org/obo/GO_1903532	Any process that activates or increases the frequency, rate or extent of secretion by cell.	
GO:0048137	spermatocyte division	biolink:OntologyClass	mondo			spermatocyte cell division	http://purl.obolibrary.org/obo/GO_0048137	The meiotic divisions undergone by the primary and secondary spermatocytes to produce haploid spermatids.	
GO:1903531	negative regulation of secretion by cell	biolink:OntologyClass	mondo			downregulation of cellular secretion|down-regulation of secretion by cell|down regulation of cellular secretion|down regulation of secretion by cell|inhibition of cellular secretion|down-regulation of cellular secretion|negative regulation of cellular secretion|inhibition of secretion by cell|downregulation of secretion by cell	http://purl.obolibrary.org/obo/GO_1903531	Any process that stops, prevents or reduces the frequency, rate or extent of secretion by cell.	
GO:1903530	regulation of secretion by cell	biolink:OntologyClass	mondo			regulation of cellular secretion	http://purl.obolibrary.org/obo/GO_1903530	Any process that modulates the frequency, rate or extent of secretion by cell.	
MONDO:0012199	posterior polymorphous corneal dystrophy 2	biolink:Disease	mondo	ICD10:H18.50|UMLS:C1852795|OMIM:609140|DOID:0110856|MESH:C565176		COL8A2 posterior polymorphous corneal dystrophy|corneal dystrophy, posterior polymorphous, type 2|posterior polymorphous corneal dystrophy type 2|posterior polymorphous corneal dystrophy caused by mutation in COL8A2|PPCD2|corneal dystrophy, POSTERIOR polymorphous, 2|corneal dystrophy, POSTERIOR polymorphous, 2; PPCD2|Ppcd2	http://purl.obolibrary.org/obo/MONDO_0012199	Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the COL8A2 gene.	DOID:0110856|UMLS:C1852795|http://identifiers.org/omim/609140|MESH:C565176
CHEBI:51270	tetracenes	biolink:ChemicalSubstance	mondo			naphthacenes	http://purl.obolibrary.org/obo/CHEBI_51270	Compounds containing a tetracene skeleton.	
MONDO:0012193	autosomal dominant limb-girdle muscular dystrophy type 1G	biolink:Disease	mondo	SCTID:719990003|MESH:C563794|DOID:0110306|OMIM:609115|Orphanet:55596|ICD10:G71.0|GARD:0012531	ordo_disease	HNRNPDL autosomal dominant limb-girdle muscular dystrophy|LGMD1G|autosomal dominant limb-girdle muscular dystrophy caused by mutation in HNRNPDL|muscular dystrophy limb-girdle type 1G|limb-girdle muscular dystrophy, type 1G; LGMD1G|limb-girdle muscular dystrophy, type 1G|limb-girdle muscular dystrophy type 1G	http://purl.obolibrary.org/obo/MONDO_0012193	Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.	http://identifiers.org/omim/609115|SNOMEDCT:719990003|ORPHA:55596|DOID:0110306|MESH:C563794
MONDO:0012194	ANIB3	biolink:Disease	mondo	OMIM:609122|UMLS:C1836757|MESH:C563792		aneurysm, intracranial BERRY, 3; ANIB3|ANIB3|aneurysm, intracranial BERRY, 3	http://purl.obolibrary.org/obo/MONDO_0012194		UMLS:C1836757|http://identifiers.org/omim/609122|MESH:C563792
MONDO:0012191	hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	biolink:Disease	mondo	DOID:0111474|MESH:C563797|Orphanet:137681|OMIM:609060|NCIT:C125663|SCTID:764962002|UMLS:C1836797|ICD10:E88.8	ordo_disease	GFM1 combined oxidative phosphorylation deficiency|COXPD1|combined oxidative phosphorylation deficiency type 1|combined oxidative phosphorylation deficiency caused by mutation in GFM1|combined oxidative phosphorylation deficiency 1|Hepatoencephalopathy, early fatal progressive|Hepatoencephalopathy due to COXPD1|combined oxidative phosphorylation deficiency 1; COXPD1	http://purl.obolibrary.org/obo/MONDO_0012191	Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.	http://identifiers.org/omim/609060|ORPHA:137681|SNOMEDCT:764962002|DOID:0111474|MESH:C563797|UMLS:C1836797|NCIT:C125663
MONDO:0012192	permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	biolink:Disease	mondo	MESH:C563796|UMLS:C1836780|Orphanet:65288|OMIM:609069	ordo_malformation_syndrome	diabetes mellitus, permanent neonatal, with cerebellar agenesis|pancreatic and cerebellar agenesis; paca|pancreatic and cerebellar agenesis|paca	http://purl.obolibrary.org/obo/MONDO_0012192	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.	http://identifiers.org/omim/609069|ORPHA:65288|MESH:C563796|UMLS:C1836780
MONDO:0012197	idiopathic aplastic anemia	biolink:Disease	mondo	MESH:C538494|SCTID:191256002|NCIT:C61230|ICD10:D61.0|Orphanet:88|UMLS:C0348890|ICD10:D61.3|GARD:0005836|OMIM:609135	ordo_disease	secondary aplastic anemia|aplastic anemia idiopathic|anemia aplastic|idiopathic bone marrow failure|aplastic Anemia, susceptibility to|aplastic anemia|idiopathic aplastic aplasia	http://purl.obolibrary.org/obo/MONDO_0012197	Aplastic anemia without a known cause.	ORPHA:88|UMLS:C0348890|http://identifiers.org/omim/609135|MESH:C538494|NCIT:C61230|SNOMEDCT:191256002
GO:0051782	negative regulation of cell division	biolink:OntologyClass	mondo			down-regulation of cell division|down regulation of cell division|inhibition of cell division|downregulation of cell division	http://purl.obolibrary.org/obo/GO_0051782	Any process that stops, prevents, or reduces the frequency, rate or extent of cell division.	
MONDO:0012198	PCWH syndrome	biolink:Disease	mondo	UMLS:CN239463|MESH:C563789|ICD10:E75.2|UMLS:C1836727|DOID:0090111|OMIM:609136|Orphanet:163746	ordo_disease	peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease|WS4 plus|peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome|peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease; PCWH|neurologic Waardenburg-Shah syndrome|peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease|Waardenburg-Shah syndrome, neurologic variant|PCWH	http://purl.obolibrary.org/obo/MONDO_0012198	Waardenburg-Shah syndrome, neurologic variant, also referred to as Peripheral demyelinating neuropathy, Central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH), is characterized by the association of the features of WSS (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease) with neurological features, namely, neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy.	MESH:C563789|UMLS:C1836727|http://identifiers.org/omim/609136|UMLS:CN239463|DOID:0090111|ORPHA:163746
UBERON:4300226	forelimb bud mesenchyme	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_4300226	Mesenchyme that is part of a forelimb bud.	
GO:0051783	regulation of nuclear division	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0051783	Any process that modulates the frequency, rate or extent of nuclear division, the partitioning of the nucleus and its genetic information.	
MONDO:0012195	arthrogryposis-severe scoliosis syndrome	biolink:Disease	mondo	SCTID:715575001|ICD10:Q68.8|OMIM:609128|MESH:C563791|Orphanet:65720|UMLS:C1836756	ordo_malformation_syndrome	DA4|arthrogryposis with Severe scoliosis|arthrogryposis, distal, type 4; DA4|arthrogryposis, distal, type 4|distal arthrogryposis type IID|distal arthrogryposis type 4|arthrogryposis, distal, type 2D	http://purl.obolibrary.org/obo/MONDO_0012195	Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal.	MESH:C563791|UMLS:C1836756|ORPHA:65720|http://identifiers.org/omim/609128|SNOMEDCT:715575001
UBERON:4300227	hindlimb bud mesenchyme	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_4300227	Mesenchyme that is part of a hindlimb bud.	
MONDO:0012196	autosomal dominant auditory neuropathy 1	biolink:Disease	mondo	OMIM:609129|DOID:0060690|UMLS:C1836743|ICD10:H90.3|MESH:C563790		autosomal dominant auditory neuropathy type 1|auditory neuropathy, autosomal dominant, 1; AUNA1|auditory neuropathy caused by mutation in DIAPH3|DIAPH3 auditory neuropathy|auditory neuropathy, nonsyndromic dominant|auditory neuropathy, autosomal dominant, type 1|AUNA1|NSDAN|nonsyndromic dominant auditory neuropathy|auditory neuropathy, autosomal dominant, 1	http://purl.obolibrary.org/obo/MONDO_0012196	Any auditory neuropathy in which the cause of the disease is a mutation in the DIAPH3 gene.	DOID:0060690|MESH:C563790|UMLS:C1836743|http://identifiers.org/omim/609129
GO:0051781	positive regulation of cell division	biolink:OntologyClass	mondo			up regulation of cell division|activation of cell division|stimulation of cell division|upregulation of cell division|up-regulation of cell division	http://purl.obolibrary.org/obo/GO_0051781	Any process that activates or increases the frequency, rate or extent of cell division.	
ENVO:01001602	Eritrean Coastal Desert Ecoregion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001602		
GO:0051797	regulation of hair follicle development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0051797	Any process that modulates the frequency, rate or extent of hair follicle development.	
ENVO:01001601	Ethiopian Xeric Grasslands and Shrublands Ecoregion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001601		
GO:0000122	negative regulation of transcription by RNA polymerase II	biolink:OntologyClass	mondo			down-regulation of global transcription from RNA polymerase II promoter|negative regulation of transcription from Pol II promoter|downregulation of transcription from RNA polymerase II promoter|inhibition of global transcription from RNA polymerase II promoter|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of global transcription from Pol II promoter|inhibition of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter, global|downregulation of global transcription from RNA polymerase II promoter|down-regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|down regulation of global transcription from RNA polymerase II promoter|down regulation of transcription from RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_0000122	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.	
GO:0051798	positive regulation of hair follicle development	biolink:OntologyClass	mondo			up-regulation of hair follicle development|up regulation of hair follicle development|activation of hair follicle development|stimulation of hair follicle development|upregulation of hair follicle development	http://purl.obolibrary.org/obo/GO_0051798	Any process that activates or increases the frequency, rate or extent of hair follicle development.	
ENVO:01001604	Oman, Yemen, and Saudi Arabia Ecoregion	biolink:OntologyClass	mondo			Western Asia: Oman, Yemen, and Saudi Arabia Ecoregion	http://purl.obolibrary.org/obo/ENVO_01001604		
ENVO:01001603	East Saharan Montane Xeric Woodland Ecoregion	biolink:OntologyClass	mondo			North central Africa: Eastern Chad and small area of western Sudan	http://purl.obolibrary.org/obo/ENVO_01001603		
CHEBI:51269	acenes	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_51269	Polycyclic aromatic hydrocarbons consisting of fused benzene rings in a rectilinear arrangement and their substitution derivatives.	
GO:0051799	negative regulation of hair follicle development	biolink:OntologyClass	mondo			down-regulation of hair follicle development|down regulation of hair follicle development|inhibition of hair follicle development|downregulation of hair follicle development	http://purl.obolibrary.org/obo/GO_0051799	Any process that stops, prevents, or reduces the frequency, rate or extent of hair follicle development.	
ENVO:01001600	Oman and United Arab Emirates Ecoregion	biolink:OntologyClass	mondo			Arabian Peninsula: Oman and United Arab Emirates Ecoregion	http://purl.obolibrary.org/obo/ENVO_01001600		
GO:0002784	regulation of antimicrobial peptide production	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002784	Any process that modulates the frequency, rate, or extent of antimicrobial peptide production.	
GO:0002785	negative regulation of antimicrobial peptide production	biolink:OntologyClass	mondo			down regulation of antimicrobial peptide production|inhibition of antimicrobial peptide production|down-regulation of antimicrobial peptide production|downregulation of antimicrobial peptide production	http://purl.obolibrary.org/obo/GO_0002785	Any process that stops, prevents, or reduces the frequency, rate, or extent of antimicrobial peptide production.	
ENVO:01001609	cryospheric layer	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001609	A layer which is part of a cryosphere.	
HGNC:25360	DDX59	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25360		
HGNC:25367	CCDC8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25367		
ENVO:01001605	Aldabra Island Xeric Scrub Ecoregion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001605		
GO:1903551	regulation of extracellular exosome assembly	biolink:OntologyClass	mondo			regulation of extracellular vesicular exosome assembly	http://purl.obolibrary.org/obo/GO_1903551	Any process that modulates the frequency, rate or extent of extracellular vesicular exosome assembly.	
HGNC:13387	NEK8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13387		
GO:0099738	cell cortex region	biolink:OntologyClass	mondo			perimembrane region	http://purl.obolibrary.org/obo/GO_0099738	The complete extent of cell cortex that underlies some some region of the plasma membrane.	
GO:0002793	positive regulation of peptide secretion	biolink:OntologyClass	mondo			up-regulation of peptide secretion|up regulation of peptide secretion|activation of peptide secretion|stimulation of peptide secretion|upregulation of peptide secretion	http://purl.obolibrary.org/obo/GO_0002793	Any process that activates or increases the frequency, rate, or extent of peptide secretion.	
GO:0002794	regulation of antimicrobial peptide secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002794	Any process that modulates the frequency, rate, or extent of antimicrobial peptide secretion.	
GO:0002795	negative regulation of antimicrobial peptide secretion	biolink:OntologyClass	mondo			down-regulation of antimicrobial peptide secretion|down regulation of antimicrobial peptide secretion|downregulation of antimicrobial peptide secretion|inhibition of antimicrobial peptide secretion	http://purl.obolibrary.org/obo/GO_0002795	Any process that stops, prevents, or reduces the frequency, rate, or extent of antimicrobial peptide secretion.	
GO:0002796	positive regulation of antimicrobial peptide secretion	biolink:OntologyClass	mondo			up regulation of antimicrobial peptide secretion|activation of antimicrobial peptide secretion|stimulation of antimicrobial peptide secretion|upregulation of antimicrobial peptide secretion|up-regulation of antimicrobial peptide secretion	http://purl.obolibrary.org/obo/GO_0002796	Any process that activates or increases the frequency, rate, or extent of antimicrobial peptide secretion.	
GO:0002790	peptide secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002790	The controlled release of a peptide from a cell or a tissue.	
GO:0002791	regulation of peptide secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002791	Any process that modulates the frequency, rate, or extent of peptide secretion.	
GO:0002792	negative regulation of peptide secretion	biolink:OntologyClass	mondo			downregulation of peptide secretion|down-regulation of peptide secretion|down regulation of peptide secretion|inhibition of peptide secretion	http://purl.obolibrary.org/obo/GO_0002792	Any process that stops, prevents, or reduces the frequency, rate, or extent of peptide secretion.	
GO:1903553	positive regulation of extracellular exosome assembly	biolink:OntologyClass	mondo			upregulation of extracellular vesicular exosome assembly|up regulation of extracellular vesicular exosome assembly|positive regulation of extracellular vesicular exosome assembly|up-regulation of extracellular vesicular exosome assembly|activation of extracellular vesicular exosome assembly	http://purl.obolibrary.org/obo/GO_1903553	Any process that activates or increases the frequency, rate or extent of extracellular vesicular exosome assembly.	
GO:1903552	negative regulation of extracellular exosome assembly	biolink:OntologyClass	mondo			down regulation of extracellular vesicular exosome assembly|inhibition of extracellular vesicular exosome assembly|negative regulation of extracellular vesicular exosome assembly|down-regulation of extracellular vesicular exosome assembly|downregulation of extracellular vesicular exosome assembly	http://purl.obolibrary.org/obo/GO_1903552	Any process that stops, prevents or reduces the frequency, rate or extent of extracellular vesicular exosome assembly.	
GO:1903561	extracellular vesicle	biolink:OntologyClass	mondo			microparticle	http://purl.obolibrary.org/obo/GO_1903561	Any vesicle that is part of the extracellular region.	
NCBITaxon:649188	Lujo mammarenavirus	organism taxon	mondo	GC_ID:1		Lujo virus	http://purl.obolibrary.org/obo/NCBITaxon_649188		
CHEBI:38297	thiabicycloalkane	biolink:ChemicalSubstance	mondo			thiabicycloalkanes	http://purl.obolibrary.org/obo/CHEBI_38297		
CHEBI:38295	azabicycloalkane	biolink:ChemicalSubstance	mondo			azabicycloalkanes	http://purl.obolibrary.org/obo/CHEBI_38295		
HGNC:13398	NSDHL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13398		
HGNC:13394	NPHS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13394		
GO:0002764	immune response-regulating signaling pathway	biolink:OntologyClass	mondo			immune response-regulating signalling pathway	http://purl.obolibrary.org/obo/GO_0002764	The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately leading to the activation, perpetuation, or inhibition of an immune response.	
ENVO:01001626	Indo-Malay Ecoregion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001626		
GO:0002760	positive regulation of antimicrobial humoral response	biolink:OntologyClass	mondo			up regulation of antimicrobial humoral response|stimulation of antimicrobial humoral response|up-regulation of antimicrobial humoral response|activation of antimicrobial humoral response|upregulation of antimicrobial humoral response	http://purl.obolibrary.org/obo/GO_0002760	Any process that activates or increases the frequency, rate, or extent of an antimicrobial humoral response.	
ENVO:01001620	mass of ice and snow	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001620	A object which is composed primarily of water-based snow and ice.	
GO:0002761	regulation of myeloid leukocyte differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002761	Any process that modulates the frequency, rate, or extent of myeloid leukocyte differentiation.	
GO:0002762	negative regulation of myeloid leukocyte differentiation	biolink:OntologyClass	mondo			down-regulation of myeloid leukocyte differentiation|down regulation of myeloid leukocyte differentiation|inhibition of myeloid leukocyte differentiation|downregulation of myeloid leukocyte differentiation	http://purl.obolibrary.org/obo/GO_0002762	Any process that stops, prevents, or reduces the frequency, rate, or extent of myeloid leukocyte differentiation.	
GO:0002763	positive regulation of myeloid leukocyte differentiation	biolink:OntologyClass	mondo			activation of myeloid leukocyte differentiation|stimulation of myeloid leukocyte differentiation|upregulation of myeloid leukocyte differentiation|up-regulation of myeloid leukocyte differentiation|up regulation of myeloid leukocyte differentiation	http://purl.obolibrary.org/obo/GO_0002763	Any process that activates or increases the frequency, rate, or extent of myeloid leukocyte differentiation.	
ENVO:01001628	Northwestern Thorn Scrub Forests	biolink:OntologyClass	mondo			Southern Asia: Eastern India and western Pakistan	http://purl.obolibrary.org/obo/ENVO_01001628		
GO:1903566	positive regulation of protein localization to cilium	biolink:OntologyClass	mondo			upregulation of protein localization to cilium|up regulation of protein localization to cilium|up-regulation of protein localization to cilium|activation of protein localization to cilium	http://purl.obolibrary.org/obo/GO_1903566	Any process that activates or increases the frequency, rate or extent of protein localization to cilium.	
GO:1903565	negative regulation of protein localization to cilium	biolink:OntologyClass	mondo			down regulation of protein localization to cilium|inhibition of protein localization to cilium|down-regulation of protein localization to cilium|downregulation of protein localization to cilium	http://purl.obolibrary.org/obo/GO_1903565	Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to cilium.	
ENVO:01001627	Thar Desert	biolink:OntologyClass	mondo			Southern Asia: Western India into Pakistan	http://purl.obolibrary.org/obo/ENVO_01001627		
GO:1903564	regulation of protein localization to cilium	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1903564	Any process that modulates the frequency, rate or extent of protein localization to cilium.	
GO:0002768	immune response-regulating cell surface receptor signaling pathway	biolink:OntologyClass	mondo			immune response-regulating cell surface receptor signalling pathway	http://purl.obolibrary.org/obo/GO_0002768	A series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell capable of activating, perpetuating, or inhibiting an immune response.	
GO:0002775	antimicrobial peptide production	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002775	The synthesis or release of an antimicrobial peptide during an immune response, resulting in an increase in intracellular or extracellular levels. Such peptides may have protective properties against bacteria, fungi, viruses, or protozoa.	
GO:0002776	antimicrobial peptide secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002776	The regulated release of an antimicrobial peptide from a cell or a tissue. Such peptides may have protective properties against bacteria, fungi, viruses, or protozoa.	
HGNC:25358	RNF170	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25358		
NCBITaxon:471472	Chlamydia trachomatis 434/Bu	organism taxon	mondo	GC_ID:11		Chlamydia trachomatis str. 434/Bu|Chlamydia trachomatis strain 434/Bu	http://purl.obolibrary.org/obo/NCBITaxon_471472		
ENVO:01001614	ice-bearing permafrost	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001614	Permafrost which contains inclusions of water-based ice.	
GO:1903579	negative regulation of ATP metabolic process	biolink:OntologyClass	mondo			down-regulation of ATP metabolic process|downregulation of ATP metabolism|down regulation of ATP metabolic process|down regulation of ATP metabolism|inhibition of ATP metabolism|inhibition of ATP metabolic process|downregulation of ATP metabolic process|negative regulation of ATP metabolism|down-regulation of ATP metabolism	http://purl.obolibrary.org/obo/GO_1903579	Any process that stops, prevents or reduces the frequency, rate or extent of ATP metabolic process.	
GO:1903578	regulation of ATP metabolic process	biolink:OntologyClass	mondo			regulation of ATP metabolism	http://purl.obolibrary.org/obo/GO_1903578	Any process that modulates the frequency, rate or extent of ATP metabolic process.	
HGNC:25356	SPRTN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25356		
ENVO:01001617	snow accumulation process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001617	A material accumulation process during which the mass of snow on a surface increases.	
HGNC:25355	SLC30A10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25355		
ENVO:01001619	snow and ice accumulation process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001619	A material accumulation process during which a accumulation of snow and ice forms or increases in mass.	
ENVO:01001618	ice accumulation process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001618	A material accumulation process during which ice forms in an environmental material or an existing accumulation of ice increases in mass.	
HGNC:8800	PDGFB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8800		
GO:1903580	positive regulation of ATP metabolic process	biolink:OntologyClass	mondo			upregulation of ATP metabolic process|up-regulation of ATP metabolism|activation of ATP metabolism|up-regulation of ATP metabolic process|upregulation of ATP metabolism|up regulation of ATP metabolic process|activation of ATP metabolic process|positive regulation of ATP metabolism|up regulation of ATP metabolism	http://purl.obolibrary.org/obo/GO_1903580	Any process that activates or increases the frequency, rate or extent of ATP metabolic process.	
HGNC:8803	PDGFRA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8803		
HGNC:8805	PDGFRL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8805		
HGNC:8804	PDGFRB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8804		
MONDO:0000157	obsolete episodic pain syndrome, familial	biolink:Disease	mondo	DC:0000616			http://purl.obolibrary.org/obo/MONDO_0000157		
HP:0011495	Abnormal corneal epithelium morphology	biolink:PhenotypicFeature	mondo	UMLS:C4023326		Abnormality of corneal epithelium	http://purl.obolibrary.org/obo/HP_0011495	Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea.	
MONDO:0000156	trigonocephaly	biolink:Disease	mondo	SCTID:28740008|DC:0000606		trigonocephalus|trigonocephaly, isolated|trigonocephalia|trigonocephaly	http://purl.obolibrary.org/obo/MONDO_0000156		SNOMEDCT:28740008
MONDO:0000155	triglyceride storage disease	biolink:Disease	mondo	DC:0000605		inborn sequestering of triglyceride disorder|inborn error of sequestering of triglyceride|rare inborn error of sequestering of triglyceride	http://purl.obolibrary.org/obo/MONDO_0000155	An acquired metabolic disease that is has its basis in the disruption of sequestering of triglyceride.	
MONDO:0000154	obsolete Trichohepatoenteric syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000154		
MONDO:0000159	bone marrow failure syndrome	biolink:Disease	mondo	DC:0000621|UMLS:C2931245|OMIMPS:614675|MESH:C536572			http://purl.obolibrary.org/obo/MONDO_0000159		MESH:C536572|UMLS:C2931245
HGNC:6192	JAK2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6192		
MONDO:0000158	developmental dysplasia of the hip	biolink:Disease	mondo	UMLS:C1840555|DC:0000618|ICD9:755.63|SCTID:52781008|OMIMPS:142700|EFO:1000648|MESH:D006618		congenital acetabular dysplasia|congenital dysplasia of the hip|dysplasia of acetabulum|congenital hip dysplasia	http://purl.obolibrary.org/obo/MONDO_0000158	A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation.	NCIT:C119752|MESH:D006618|UMLS:C1840555|SNOMEDCT:52781008
HGNC:6193	JAK3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6193		
MONDO:0000153	transposition of the great arteries	biolink:Disease	mondo	ICD10:Q20.3|MESH:D014188|NCIT:C84742|Orphanet:216675|DC:0000602|ICD10:Q20.5	ordo_group_of_disorders	transposition of great vessels|great vessels transposition|complete transposition|TGV|TGA|transposition of the great vessels	http://purl.obolibrary.org/obo/MONDO_0000153	A congenital cardiac defect in which two heart vessels are reversed (transposed).	NCIT:C84742|ORPHA:216675|MESH:D014188
MONDO:0000152	thiamine-responsive dysfunction syndrome	biolink:Disease	mondo	OMIMPS:249270|DC:0000600			http://purl.obolibrary.org/obo/MONDO_0000152		
MONDO:0000151	symphalangism	biolink:Disease	mondo	SCTID:253975004|DC:0000599			http://purl.obolibrary.org/obo/MONDO_0000151		SNOMEDCT:253975004
MONDO:0000150	obsolete spondylometaphyseal dysplasia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000150		
MONDO:0026782	chondrodysplasia punctata 2, X-linked dominant	biolink:Disease	mondo	OMIM:302960		Conradi-Hunermann Syndrome|CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2|Happle Syndrome|Conradi-Hunermann-Happle Syndrome|Cdpxd	http://purl.obolibrary.org/obo/MONDO_0026782		http://identifiers.org/omim/302960
MONDO:0012146	familial hemophagocytic lymphohistiocytosis 3	biolink:Disease	mondo	GARD:0009928|DOID:0110923|OMIM:608898|MESH:C537251	gard_rare	hemophagocytic lymphohistiocytosis, familial, 3; FHL3|familial hemophagocytic lymphohistiocytosis type 3|hemophagocytic lymphohistiocytosis, familial, 3|HPLH3|HLH3|UNC13D genetic hemophagocytic lymphohistiocytosis|FHL3|hemophagocytic lymphohistiocytosis, familial, type 3|Hlh3|Hplh3|genetic hemophagocytic lymphohistiocytosis caused by mutation in UNC13D	http://purl.obolibrary.org/obo/MONDO_0012146	Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the UNC13D gene.	MESH:C537251|http://identifiers.org/omim/608898|DOID:0110923
MONDO:0012147	coronary heart disease, susceptibility to, 5	biolink:Disease	mondo	OMIM:608901	predisposition	susceptibility to coronary heart disease 5|KALRN coronary artery disease|coronary artery disease caused by mutation in KALRN|coronary artery disease, early-onset|coronary heart disease, susceptibility to, type 5|Chds5|coronary heart disease, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0012147	Any coronary artery disease in which the cause of the disease is a mutation in the KALRN gene.	http://identifiers.org/omim/608901
MONDO:0012144	Waardenburg syndrome type 2D	biolink:Disease	mondo	UMLS:C1837203|MESH:C563839|DOID:0110952|OMIM:608890		SNAI2 Waardenburg syndrome type 2|Waardenburg syndrome type 2 caused by mutation in SNAI2|Waardenburg syndrome, type 2D|Waardenburg syndrome type IID|WS2D|Waardenburg syndrome, type 2D; WS2D	http://purl.obolibrary.org/obo/MONDO_0012144	Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SNAI2 gene.	http://identifiers.org/omim/608890|UMLS:C1837203|DOID:0110952|MESH:C563839
MONDO:0012145	macular degeneration, age-related, 3	biolink:Disease	mondo	MESH:C563838|OMIM:608895|UMLS:C1837187		HNARMD|macular Degeneration, age-related, type 3|macular degeneration, age-related, 3; ARMD3|neuropathy, hereditary, with or without age-related macular degeneration; HNARMD|ARMD3|FBLN5 age-related macular degeneration|neuropathy, hereditary, with or without age-related macular Degeneration|macular degeneration, age-related, 3|age-related macular degeneration caused by mutation in FBLN5	http://purl.obolibrary.org/obo/MONDO_0012145	Any age-related macular degeneration in which the cause of the disease is a mutation in the FBLN5 gene.	http://identifiers.org/omim/608895|UMLS:C1837187|MESH:C563838
HGNC:13345	LPIN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13345		
MONDO:0012148	obsolete drug metabolism, poor, CYP2D6-related	biolink:Disease	mondo	EFO:0009161|UMLS:C1837154|OMIM:608902|MESH:C563835		debrisoquine, poor metabolism of|debrisoquine, ultrarapid metabolism of|drug metabolism, ultrarapid, CYP2D6-related|codeine, ultrarapid metabolism of|sparteine, poor metabolism of|nortriptyline, poor metabolism of|drug metabolism, poor, CYP2D6-related	http://purl.obolibrary.org/obo/MONDO_0012148		http://identifiers.org/omim/608902|UMLS:C1837154|MESH:C563835
MONDO:0012149	attention deficit-hyperactivity disorder, susceptibility to, 1	biolink:Disease	mondo	OMIM:608903	predisposition	attention Deficit-hyperactivity disorder, susceptibility to, type 1|Adhd1|attention deficit-hyperactivity disorder, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0012149		http://identifiers.org/omim/608903
MONDO:0012142	orofacial cleft 5	biolink:Disease	mondo	DOID:0080399|OMIM:608874|MESH:C563843|UMLS:C1837210		cleft lip with or without cleft palate, nonsyndromic, 5|MSX1 orofacial cleft|OFC5|orofacial cleft caused by mutation in MSX1|orofacial cleft 5|orofacial cleft 5; OFC5|orofacial cleft type 5	http://purl.obolibrary.org/obo/MONDO_0012142	Any orofacial cleft in which the cause of the disease is a mutation in the MSX1 gene.	DOID:0080399|http://identifiers.org/omim/608874|UMLS:C1837210|MESH:C563843
MONDO:0012143	hereditary cryohydrocytosis with reduced stomatin	biolink:Disease	mondo	MESH:C563840|Orphanet:168577|OMIM:608885|UMLS:C1837206|ICD10:D58.8	ordo_disease	cryohydrocytosis, stomatin-deficient, with intellectual disability, seizures, cataracts, and massive hepatosplenomegaly|hereditary cryohydrocytosis type 2|cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly|GLUT1 deficiency syndrome with pseudohyperkalemia and hemolysis|ChC type 2|sdCHC|stomatin-deficient cryohydrocytosis with neurologic defects; SDCHCN|SDCHCN|stomatin-deficient cryohydrocytosis with neurologic defects|stomatin-deficient cryohydrocytosis	http://purl.obolibrary.org/obo/MONDO_0012143		http://identifiers.org/omim/608885|UMLS:C1837206|MESH:C563840|ORPHA:168577
MONDO:0012140	obsolete pulmonary function	biolink:Disease	mondo	OMIM:608852		lung function, accelerated rate of decline In, smoking-related|Plf|pulmonary function	http://purl.obolibrary.org/obo/MONDO_0012140		http://identifiers.org/omim/608852
MONDO:0012141	orofacial cleft 6, susceptibility to	biolink:Disease	mondo	DOID:0080593|OMIM:608864	predisposition	orofacial cleft 6, susceptibility to; OFC6|orofacial cleft 6, susceptibility to|cleft lip with or without cleft palate, nonsyndromic, 6|orofacial cleft caused by mutation in IRF6|OFC6|IRF6 orofacial cleft|susceptibility to orofacial cleft 6	http://purl.obolibrary.org/obo/MONDO_0012141	Any orofacial cleft in which the cause of the disease is a mutation in the IRF6 gene.	DOID:0080593|http://identifiers.org/omim/608864
MONDO:0000168	obsolete mental retardation, X-linked, nonsyndromic	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000168		
MONDO:0000167	Huntington disease and related disorders	biolink:Disease	mondo	DC:0000649			http://purl.obolibrary.org/obo/MONDO_0000167	A grouping for Huntington disease and similar diseases.	
MONDO:0026777	VEXAS syndrome	biolink:Disease	mondo	OMIM:301054		vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome|VEXAS	http://purl.obolibrary.org/obo/MONDO_0026777		http://identifiers.org/omim/301054
MONDO:0000166	encephalopathy, acute, infection-induced	biolink:Disease	mondo	OMIMPS:610551|UMLS:CN236791|DC:0000646			http://purl.obolibrary.org/obo/MONDO_0000166		UMLS:CN236791
MONDO:0000165	obsolete ectodermal dysplasia-syndactyly syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000165		
MONDO:0000169	microphthalmia, isolated, with cataract	biolink:Disease	mondo	OMIMPS:156850|DC:0000657			http://purl.obolibrary.org/obo/MONDO_0000169		
MONDO:0000160	epilepsy, familial adult myoclonic	biolink:Disease	mondo	DOID:0111689|OMIMPS:601068|DC:0000624			http://purl.obolibrary.org/obo/MONDO_0000160		DOID:0111689
MONDO:0000164	obsolete corneal dystrophy, Fuchs endothelial	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000164		
MONDO:0000163	obsolete breast-ovarian cancer, familial, susceptibility to	biolink:Disease	mondo		predisposition		http://purl.obolibrary.org/obo/MONDO_0000163		
MONDO:0000162	autoimmune thyroid disease, susceptibility to	biolink:Disease	mondo	DC:0000634	predisposition		http://purl.obolibrary.org/obo/MONDO_0000162		
MONDO:0000161	obsolete adrenal hyperplasia (disease)	biolink:Disease	mondo	DC:0000631|UMLS:C1621895		adrenal hyperplasia	http://purl.obolibrary.org/obo/MONDO_0000161		UMLS:C1621895
MONDO:0026771	developmental and epileptic encephalopathy, 85, with or without midline brain defects	biolink:Disease	mondo	OMIM:301044		DEE85, with or without midline brain defects|EIEE85|epileptic encephalopathy, early infantile, 85, with or without midline brain defects	http://purl.obolibrary.org/obo/MONDO_0026771		http://identifiers.org/omim/301044
MONDO:0014798	brachydactyly type A1D	biolink:Disease	mondo	DOID:0110978|OMIM:616849|UMLS:C4225183		BDA1D|brachydactyly, type A1, D; BDA1D|brachydactyly type A1 caused by mutation in BMPR1B|brachydactyly, type A1, D|BMPR1B brachydactyly type A1	http://purl.obolibrary.org/obo/MONDO_0014798	Any brachydactyly type A1 in which the cause of the disease is a mutation in the BMPR1B gene.	UMLS:C4225183|DOID:0110978|http://identifiers.org/omim/616849
MONDO:0012135	restless legs syndrome, susceptibility to, 2	biolink:Disease	mondo	UMLS:C1837285|OMIM:608831|GARD:0009710	predisposition	RLS2|restless legs syndrome, susceptibility to, 2|restless legs syndrome, susceptibility to, 2; RLS2	http://purl.obolibrary.org/obo/MONDO_0012135		http://identifiers.org/omim/608831|UMLS:C1837285
MONDO:0012136	carnitine palmitoyl transferase II deficiency, neonatal form	biolink:Disease	mondo	ICD10:E71.3|OMIM:608836|UMLS:C1833518|MESH:C563463|Orphanet:228308	ordo_clinical_subtype	Carnitine palmitoyl transferase II deficiency, lethal systemic form|Carnitine Palmitoyltransferase 2 deficiency, antenatal|Cpt2 deficiency, lethal neonatal|Carnitine Palmitoyltransferase 2 deficiency, lethal neonatal|CPTII, neonatal form|CPT 2 deficiency, lethal neonatal|CARNITINE PALMITOYLTRANSFERASE II deficiency, lethal neonatal|Carnitine Palmitoyltransferase 2 deficiency, neonatal|Carnitine palmitoyl transferase deficiency type 2, lethal systemic form|CPT2, lethal systemic form|Carnitine palmitoyl transferase deficiency type 2, neonatal form|CPT2, neonatal form|CPTII, lethal systemic form	http://purl.obolibrary.org/obo/MONDO_0012136	The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.	UMLS:C1833518|http://identifiers.org/omim/608836|MESH:C563463|ORPHA:228308
MONDO:0014797	lymphedema, hereditary, type III	biolink:Disease	mondo	EFO:0009153|OMIM:616843|UMLS:C4225184		lymphedema, hereditary, III|lymphedema, hereditary, 3|lymphedema, hereditary, type III|LMPH3|lymphedema, hereditary, III; LMPH3|generalized lymphatic dysplasia of Fotiou	http://purl.obolibrary.org/obo/MONDO_0014797		UMLS:C4225184|http://identifiers.org/omim/616843
MONDO:0014796	autosomal recessive early-onset Parkinson disease 23	biolink:Disease	mondo	DOID:0060896|OMIM:616840|ICD10:G20|UMLS:C4225186		young-onset Parkinson disease caused by mutation in VPS13C|autosomal recessive early-onset Parkinson's disease 23|VPS13C young-onset Parkinson disease|Parkinson disease 23, autosomal recessive early-onset; PARK23|autosomal recessive early-onset Parksinson disease type 23|PARK23|autosomal recessive early-onset Parkinson disease 23|Parkinson disease 23, autosomal recessive early-onset	http://purl.obolibrary.org/obo/MONDO_0014796	Any young-onset Parkinson disease in which the cause of the disease is a mutation in the VPS13C gene.	UMLS:C4225186|DOID:0060896|http://identifiers.org/omim/616840
MONDO:0012133	lateral semicircular canal malformation, familial, with external and middle ear abnormalities	biolink:Disease	mondo	UMLS:C1837314|MESH:C537879|OMIM:608814|GARD:0010067	gard_rare	lateral semicircular canal malformation, familial, with external and middle ear abnormalities	http://purl.obolibrary.org/obo/MONDO_0012133		http://identifiers.org/omim/608814|MESH:C537879|UMLS:C1837314
MONDO:0012134	EJM3	biolink:Disease	mondo	OMIM:608816|DOID:0111326|UMLS:C1837308	predisposition	myoclonic epilepsy, juvenile, susceptibility to, 3|EJM3|myoclonic epilepsy, juvenile, susceptibility to, 3; EJM3	http://purl.obolibrary.org/obo/MONDO_0012134		http://identifiers.org/omim/608816|DOID:0111326|UMLS:C1837308
MONDO:0014795	exercise intolerance, riboflavin-responsive	biolink:Disease	mondo	UMLS:C4225187|OMIM:616839		exercise intolerance, riboflavin-responsive|RREI|exercise intolerance, riboflavin-responsive; RREI	http://purl.obolibrary.org/obo/MONDO_0014795		UMLS:C4225187|http://identifiers.org/omim/616839
MONDO:0012139	macular dystrophy, retinal, 3	biolink:Disease	mondo	OMIM:608850|UMLS:C3888009		macular dystrophy, retinal, 3; MCDR3|macular dystrophy, retinal, type 3|Mcdr3|macular dystrophy, retinal, 3	http://purl.obolibrary.org/obo/MONDO_0012139		UMLS:C3888009|http://identifiers.org/omim/608850
HGNC:13356	MCOLN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13356		
MONDO:0012137	Carney complex - trismus - pseudocamptodactyly syndrome	biolink:Disease	mondo	OMIM:608837|ICD10:Q68.8|Orphanet:319340	ordo_disease	Carney complex variant|CARNEY complex variant	http://purl.obolibrary.org/obo/MONDO_0012137	Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).	http://identifiers.org/omim/608837|ORPHA:319340
MONDO:0014799	cataract 45	biolink:Disease	mondo	OMIM:616851|DOID:0110262|ICD10:Q12.0|UMLS:C4225182		cataract 45; CTRCT45|CTRCT45|SIPA1L3 early-onset non-syndromic cataract|early-onset non-syndromic cataract caused by mutation in SIPA1L3|cataract type 45|cataract 45	http://purl.obolibrary.org/obo/MONDO_0014799	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the SIPA1L3 gene.	UMLS:C4225182|DOID:0110262|http://identifiers.org/omim/616851
MONDO:0012138	muscular dystrophy-dystroglycanopathy type B6	biolink:Disease	mondo	MESH:C563844|DOID:0110637|ICD10:G71.2|OMIM:608840|UMLS:C1837229|Orphanet:98894		muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 6|muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6|MDC1D|congenital muscular dystrophy large-related|congenital muscular dystrophy type 1D|muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 6; MDDGB6|muscular dystrophy, congenital, type 1D|muscular dystrophy, congenital, large-related|MDDGB6|muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6; MDDGB6	http://purl.obolibrary.org/obo/MONDO_0012138	A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12.	http://identifiers.org/omim/608840|ORPHA:98894|UMLS:C1837229|DOID:0110637|MESH:C563844
MONDO:0014790	TMEM199-CDG	biolink:Disease	mondo	DOID:0070268|OMIM:616829|UMLS:C4225190|Orphanet:466703	ordo_disease	congenital disorder of glycosylation, type IIp|congenital disorder of glycosylation, type IIp; CDG2P|congenital disorder of glycosylation type IIp|CDG2P|CDG IIp|CDG syndrome type IIp|congenital disorder of glycosylation type 2p|carbohydrate deficient glycoprotein syndrome type IIp|CDG-IIp	http://purl.obolibrary.org/obo/MONDO_0014790		UMLS:C4225190|ORPHA:466703|http://identifiers.org/omim/616829|DOID:0070268
MONDO:0012131	metaphyseal undermodeling, spondylar dysplasia, and overgrowth	biolink:Disease	mondo	GARD:0010066|OMIM:608811|Orphanet:498485|MESH:C537355|UMLS:C1837316	gard_rare	metaphyseal undermodeling, spondylar dysplasia, and overgrowth|overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0012131		MESH:C537355|http://identifiers.org/omim/608811|UMLS:C1837316|ORPHA:498485
MONDO:0014794	Meier-Gorlin syndrome 6	biolink:Disease	mondo	OMIM:616835|UMLS:C4225188|DOID:0080517		MGORS6|GMNN Meier-Gorlin syndrome|Meier-GORLIN syndrome 6; MGORS6|Meier-Gorlin syndrome 6|Meier-Gorlin syndrome type 6|Meier-Gorlin syndrome caused by mutation in GMNN	http://purl.obolibrary.org/obo/MONDO_0014794	Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the GMNN gene.	UMLS:C4225188|DOID:0080517|http://identifiers.org/omim/616835
MONDO:0012132	colorectal cancer, susceptibility to, 1	biolink:Disease	mondo	OMIM:608812	predisposition	colorectal cancer caused by mutation in GALNT12|colorectal adenoma and cancer, susceptibility to|colorectal cancer, susceptibility to, on chromosome 9|susceptibility to colorectal cancer 1|colorectal cancer, susceptibility to, 1|colorectal cancer, susceptibility to, type 1|GALNT12 colorectal cancer|CRCS1|colorectal cancer, susceptibility to, 1; CRCS1	http://purl.obolibrary.org/obo/MONDO_0012132	Any colorectal cancer in which the cause of the disease is a mutation in the GALNT12 gene.	http://identifiers.org/omim/608812
MONDO:0014793	microcephaly-congenital cataract-psoriasiform dermatitis syndrome	biolink:Disease	mondo	UMLS:C4225189|OMIM:616834|Orphanet:488168	ordo_malformation_syndrome	sterol-C4-methyl oxidase deficiency|MCCPD|Sc4Mol deficiency|microcephaly, congenital cataract, and psoriasiform dermatitis|microcephaly, congenital cataract, and psoriasiform dermatitis; MCCPD|smo deficiency	http://purl.obolibrary.org/obo/MONDO_0014793		UMLS:C4225189|ORPHA:488168|http://identifiers.org/omim/616834
MONDO:0014792	Paget disease of bone 6	biolink:Disease	mondo	UMLS:C4085250|OMIM:616833		PDB6|Paget disease of bone 6|PDB6|Paget disease of bone 6; PDB6|Paget disease of bone type 6	http://purl.obolibrary.org/obo/MONDO_0014792		UMLS:C4085250|http://identifiers.org/omim/616833
MONDO:0012130	myofibrillar myopathy 2	biolink:Disease	mondo	Orphanet:399058|OMIM:608810|MESH:C563848|UMLS:C1837317|DOID:0080093|ICD10:G71.0	ordo_disease	alpha-B crystallinopathy|myopathy, desmin-related, associated with mutation in the Cryab Gene|MFM2|alpha-B crystallin-related late-onset distal myopathy|myopathy, myofibrillar, alpha-B crystallin-related|myofibrillar myopathy type 2|myopathy, myofibrillar, type 2|myopathy, myofibrillar, with or without cataract and/or cardiomyopathy|myopathy, myofibrillar, 2|late-onset distal crystallinopathy|autosomal dominant distal myopathy caused by mutation in CRYAB|CRYAB autosomal dominant distal myopathy|myopathy, myofibrillar, 2; MFM2	http://purl.obolibrary.org/obo/MONDO_0012130	Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene.	ORPHA:399058|http://identifiers.org/omim/608810|UMLS:C1837317|MESH:C563848|DOID:0080093
MONDO:0014791	Luscan-Lumish syndrome	biolink:Disease	mondo	OMIM:616831|UMLS:C4085873		Luscan-Lumish syndrome|LLs|LLs|Luscan-Lumish syndrome; LLs	http://purl.obolibrary.org/obo/MONDO_0014791		UMLS:C4085873|http://identifiers.org/omim/616831
MONDO:0002798	childhood central nervous system primitive neuroectodermal neoplasm	biolink:Disease	mondo	NCIT:C5961|UMLS:C1332957|DOID:3870		childhood CNS PNET|childhood central nervous system PNET|childhood central nervous system embryonal tumor, NOS|Central nervous system embryonal tumor, NOS|pediatric central nervous system primitive neuroectodermal tumor|central nervous system embryonal tumor, not otherwise specified|pediatric CNS primitive neuroectodermal tumor|childhood central primitive neuroectodermal neoplasm|central nervous system primitive neuroectodermal neoplasm of childhood|pediatric central nervous system primitive neuroectodermal neoplasm|childhood CNS primitive neuroectodermal neoplasm|childhood central nervous system primitive neuroectodermal neoplasm|pediatric central primitive neuroectodermal tumor|childhood central nervous system embryonal tumor, not otherwise specified|pediatric CNS PNET|pediatric central primitive neuroectodermal neoplasm|childhood central nervous system primitive neuroectodermal tumor|pediatric central nervous system primitive neuroectodermal neoplasm|childhood CNS primitive neuroectodermal tumor|pediatric CNS primitive neuroectodermal neoplasm|childhood central primitive neuroectodermal tumor	http://purl.obolibrary.org/obo/MONDO_0002798	A central nervous system embryonal tumor, not otherwise specified that occurs in childhood.	UMLS:C1332957|DOID:3870|NCIT:C5961
MONDO:0000135	obsolete Kenny-Caffey syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000135		
MONDO:0026765	congenital disorder of glycosylation, type IIr	biolink:Disease	mondo	OMIM:301045		CDG IIr|CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R	http://purl.obolibrary.org/obo/MONDO_0026765		http://identifiers.org/omim/301045
MONDO:0002799	nodular medulloblastoma	biolink:Disease	mondo	DOID:3873			http://purl.obolibrary.org/obo/MONDO_0002799	A medulloblastoma characterized by nodularity and neuronal differentiation.	DOID:3873
MONDO:0000134	obsolete inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000134		
MONDO:0000133	immunodeficiency-centromeric instability-facial anomalies syndrome	biolink:Disease	mondo	DOID:0090007|MESH:C537362|ICD10:D84.8|UMLS:CN201349|DC:0000544|SCTID:234633000|Orphanet:2268|OMIMPS:242860|GARD:0002945	ordo_malformation_syndrome	ICF syndrome|immunodeficiency-centromeric instability-facial anomalies syndrome|CIID|immunodeficiency-centromeric instability-facial anomalies	http://purl.obolibrary.org/obo/MONDO_0000133	The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.	ORPHA:2268|SNOMEDCT:234633000|UMLS:CN201349|MESH:C537362|DOID:0090007
MONDO:0026763	holoprosencephaly 13, x-linked	biolink:Disease	mondo	OMIM:301043		HOLOPROSENCEPHALY 13, X-LINKED; HPE13	http://purl.obolibrary.org/obo/MONDO_0026763		http://identifiers.org/omim/301043
MONDO:0000132	obsolete hypocalcemia (disease)	biolink:Disease	mondo	DC:0000541			http://purl.obolibrary.org/obo/MONDO_0000132		
HGNC:25302	COQ9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25302		
MONDO:0002794	adult medulloblastoma	biolink:Disease	mondo	DOID:3864|UMLS:C0278876|UMLS:C1332188|NCIT:C4011		medulloblastoma of adults|medulloblastoma|adult brain medulloblastoma	http://purl.obolibrary.org/obo/MONDO_0002794	A medulloblastoma arising from the brain, occurring in adults.	UMLS:C1332188|UMLS:C0278876|DOID:3864|NCIT:C4011
MONDO:0000139	obsolete microcephalic primordial dwarfism	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000139		
MONDO:0002795	adult central nervous system primitive neuroectodermal neoplasm	biolink:Disease	mondo	UMLS:C1332196|DOID:3865|NCIT:C5411		adult central nervous system primitive neuroectodermal neoplasm|adult central primitive neuroectodermal neoplasm|adult central nervous system embryonal tumor, not otherwise specified|adult CNS primitive neuroectodermal neoplasm|adult CNS primitive neuroectodermal tumor|central nervous system primitive neuroectodermal neoplasm of adults|adult central primitive neuroectodermal tumour|adult central nervous system primitive neuroectodermal tumor|adult central nervous system embryonal tumor, NOS|adult CNS PNET	http://purl.obolibrary.org/obo/MONDO_0002795	A central nervous system embryonal tumor, not otherwise specified that occurs in adults.	UMLS:C1332196|DOID:3865|NCIT:C5411
MONDO:0000138	metaphyseal chondrodysplasia (disease)	biolink:Disease	mondo	DC:0000558|HP:0005871|SCTID:28681006		metaphyseal chondrodysplasia	http://purl.obolibrary.org/obo/MONDO_0000138		SNOMEDCT:28681006
MONDO:0002796	melanotic medulloblastoma	biolink:Disease	mondo	ONCOTREE:MMBL|DOID:3868|UMLS:C1275668|NCIT:C9497		medulloblastoma, melanotic (morphologic abnormality)|melanotic medulloblastoma|medulloblastoma, melanotic|melanocytic medulloblastoma|MMBL|medulloblastoma with melanotic differentiation	http://purl.obolibrary.org/obo/MONDO_0002796	A rare malignant embryonal neoplasm characterized by the presence of small cells which resemble the cells of classic medulloblastoma and a minor population of melanin-forming neuroepithelial cells. It usually has an unfavorable clinical course.	NCIT:C9497|DOID:3868|UMLS:C1275668
MONDO:0026767	immunodeficiency 74, covid19-related, x-linked	biolink:Disease	mondo	OMIM:301051		Respiratory Insufficiency Due to Sars-Cov-2 Viral Infection|IMMUNODEFICIENCY 74, COVID19-RELATED, X-LINKED; IMD74|Tlr7 Deficiency	http://purl.obolibrary.org/obo/MONDO_0026767		http://identifiers.org/omim/301051
MONDO:0000137	leukoencephalopathy, megalencephalic	biolink:Disease	mondo	DC:0000556|OMIMPS:604004			http://purl.obolibrary.org/obo/MONDO_0000137		
MONDO:0026768	warfarin sensitivity, x-linked	biolink:Disease	mondo	OMIM:301052		Coumarin Sensitivity, X-Linked|WARFARIN SENSITIVITY, X-LINKED	http://purl.obolibrary.org/obo/MONDO_0026768		http://identifiers.org/omim/301052
MONDO:0002797	childhood medulloblastoma	biolink:Disease	mondo	DOID:3869|NCIT:C3997|GARD:0009350|UMLS:C0278510	gard_rare	medulloblastoma|pediatric medulloblastoma|childhood medulloblastoma|pediatric medulloblastoma|medulloblastoma of childhood|medulloblastoma, childhood	http://purl.obolibrary.org/obo/MONDO_0002797	A medulloblastoma occurring in children.	NCIT:C3997|UMLS:C0278510|DOID:3869
MONDO:0000136	keratosis follicularis spinulosa decalvans	biolink:Disease	mondo	SCTID:238626006|ICD9:757.39|DC:0000550|ICD10:Q82.8|Orphanet:2340|GARD:0006829	ordo_disease	keratosis pilaris decalvans	http://purl.obolibrary.org/obo/MONDO_0000136	Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma.	ORPHA:2340|UMLS:C0343057|SNOMEDCT:238626006
MONDO:0002790	seminal vesicle tumor	biolink:Disease	mondo	DOID:3855|SCTID:236740006|ICD9:239.5|NCIT:C39908|UMLS:C0341767		seminal vesicle tumor|seminal vesicle neoplasm (disease)|tumor of seminal vesicle|seminal vesicle neoplasm|neoplasm of seminal vesicle	http://purl.obolibrary.org/obo/MONDO_0002790	A benign or malignant neoplasm that affects the seminal vesicle. Representative examples include cystadenoma and adenocarcinoma.	SNOMEDCT:236740006|DOID:3855|UMLS:C0341767|NCIT:C39908
HGNC:27960	SLC6A19	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/27960		
MONDO:0002791	large cell medulloblastoma	biolink:Disease	mondo	ICDO:9474/3|EFO:0008508|NCIT:C6904|UMLS:C1266180|DOID:3857		large cell medulloblastoma (morphologic abnormality)|large cell medulloblastoma	http://purl.obolibrary.org/obo/MONDO_0002791	A medulloblastoma composed of large cells with prominent nucleoli and a larger amount of cytoplasm in contrast with the cells of the classic medulloblastoma.	UMLS:C1266180|DOID:3857|NCIT:C6904
MONDO:0012119	ASPG3	biolink:Disease	mondo	OMIM:608781|UMLS:C1837434	predisposition	ASPG3|ASPERGER syndrome, susceptibility to, 3|ASPERGER syndrome, susceptibility to, 3; ASPG3	http://purl.obolibrary.org/obo/MONDO_0012119		http://identifiers.org/omim/608781|UMLS:C1837434
MONDO:0002792	cerebellar vermis medulloblastoma	biolink:Disease	mondo	DOID:3860|UMLS:C1332903|NCIT:C5401		cerebellar vermis medulloblastoma|medulloblastoma of the cerebellar vermis|vermis medulloblastoma|medulloblastoma of cerebellar vermis	http://purl.obolibrary.org/obo/MONDO_0002792	A medulloblastoma arising from the vermis of the cerebellum.	UMLS:C1332903|DOID:3860|NCIT:C5401
HGNC:27962	STING1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/27962		
MONDO:0002793	obsolete medullomyoblastoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002793		
MONDO:0000131	obsolete hyperpigmentation, familial progressive	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000131		
MONDO:0000130	obsolete hypercarotenemia and vitamin a deficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000130		
MONDO:0026762	Wieacker-Wolff syndrome, female-restricted	biolink:Disease	mondo	OMIM:301041		WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR	http://purl.obolibrary.org/obo/MONDO_0026762		http://identifiers.org/omim/301041
MONDO:0012124	sudden infant death-dysgenesis of the testes syndrome	biolink:Disease	mondo	UMLS:C1837371|GARD:0012382|OMIM:608800|ICD10:G90.8|Orphanet:168593|MESH:C563856	ordo_malformation_syndrome	sudden infant death - dysgenesis of the testes|sudden infant death with dysgenesis of the testes syndrome; SIDDT|sudden infant death with dysgenesis of the testes syndrome|SIDDT	http://purl.obolibrary.org/obo/MONDO_0012124	Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.	http://identifiers.org/omim/608800|UMLS:C1837371|MESH:C563856|ORPHA:168593
MONDO:0014787	severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	biolink:Disease	mondo	OMIM:616819|Orphanet:466688|UMLS:C4225193	ordo_malformation_syndrome	Birk-Flusser syndrome|corpus callosum, agenesis OF, with FACIAL anomalies and cerebellar ataxia; CCAFCA|corpus callosum, agenesis of, with Facial anomalies and cerebellar ataxia|CCAFCA	http://purl.obolibrary.org/obo/MONDO_0014787		UMLS:C4225193|ORPHA:466688|http://identifiers.org/omim/616819
MONDO:0012125	hypomyelinating leukodystrophy 2	biolink:Disease	mondo	MESH:C563855|DOID:0060787|ICD10:E75.2|OMIM:608804|UMLS:C1837355|Orphanet:280282	ordo_clinical_subtype	Pelizaeus-Merzbacher-like disease 1|leukodystrophy, hypomyelinating, 2; HLD2|leukodystrophy, hypomyelinating, type 2|PMLD1|hypomyelinating leukodystrophy type 2|HLD2|leukodystrophy caused by mutation in GJC2|Pelizaeus-Merzbacher-like disease due to GJC2 mutation|leukodystrophy, hypomyelinating, 2|GJC2 leukodystrophy|Pelizaeus-Merzbacher-like disease, 1	http://purl.obolibrary.org/obo/MONDO_0012125	Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene.	http://identifiers.org/omim/608804|UMLS:C1837355|ORPHA:280282|MESH:C563855|DOID:0060787
CHEBI:16914	salicylic acid	biolink:ChemicalSubstance	mondo			2-hydroxybenzoic acid|Salicylic acid|2-HYDROXYBENZOIC ACID|o-hydroxybenzoic acid|o-Hydroxybenzoic acid|2-carboxyphenol|o-carboxyphenol	http://purl.obolibrary.org/obo/CHEBI_16914	A monohydroxybenzoic acid that is benzoic acid with a hydroxy group at the ortho position. It is obtained from the bark of the white willow and wintergreen leaves.	
MONDO:0014786	IgA nephropathy, susceptibility to, 3	biolink:Disease	mondo	OMIM:616818	predisposition	IgA nephropathy, susceptibility to, 3|IgA glomerulonephritis caused by mutation in SPRY2|susceptibility to IgA nephropathy 3|SPRY2 IgA glomerulonephritis|IgA nephropathy, susceptibility to, type 3|IGAN3|IgA nephropathy, susceptibility to, 3; IGAN3	http://purl.obolibrary.org/obo/MONDO_0014786	Any IgA glomerulonephritis in which the cause of the disease is a mutation in the SPRY2 gene.	http://identifiers.org/omim/616818
MONDO:0014785	microcephaly, short stature, and impaired glucose metabolism 2	biolink:Disease	mondo	OMIM:616817|UMLS:C4225195		PPP1R15B microcephaly, short stature, and impaired glucose metabolism|MSSGM2|microcephaly, short stature, and impaired glucose metabolism type 2|microcephaly, short stature, and impaired glucose metabolism caused by mutation in PPP1R15B|microcephaly, short stature, and impaired glucose metabolism 2; MSSGM2|microcephaly, short stature, and impaired glucose metabolism 2	http://purl.obolibrary.org/obo/MONDO_0014785	Any microcephaly, short stature, and impaired glucose metabolism in which the cause of the disease is a mutation in the PPP1R15B gene.	UMLS:C4225195|http://identifiers.org/omim/616817
MONDO:0012122	MYMY3	biolink:Disease	mondo	UMLS:C1837418|MESH:C536993|OMIM:608796		Moyamoya disease 3; MYMY3|MYMY3|Moyamoya disease 3	http://purl.obolibrary.org/obo/MONDO_0012122		http://identifiers.org/omim/608796|MESH:C536993|UMLS:C1837418
MONDO:0012123	congenital disorder of glycosylation type 1E	biolink:Disease	mondo	DOID:0080557|GARD:0009831|NCIT:C126871|OMIM:608799|MESH:C535743|SCTID:725078006|ICD10:E77.8|Orphanet:79322	ordo_disease	DPM1 congenital disorder of glycosylation|CDG1E|DPM1-CDG (CDG-Ie)|CDG Ie|CDG syndrome type Ie|congenital disorder of glycosylation type Ie|CDGIe|congenital disorder of glycosylation caused by mutation in DPM1|congenital disorder of glycosylation, type Ie; CDG1E|CDG 1E|carbohydrate-deficient glycoprotein syndrome type 1E|congenital disorder of glycosylation, type Ie|Dol-P-mannosyltransferase deficiency|congenital disorder of glycosylation type 1e|DPM1-CDG|carbohydrate deficient glycoprotein syndrome type Ie|CDG-Ie	http://purl.obolibrary.org/obo/MONDO_0012123	The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.	SNOMEDCT:725078006|DOID:0080557|http://identifiers.org/omim/608799|ORPHA:79322|MESH:C535743|NCIT:C126871
MONDO:0014784	severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome	biolink:Disease	mondo	UMLS:C4225196|Orphanet:467176|OMIM:616816	ordo_disease	hypotonia, infantile, with psychomotor retardation|hypotonia, infantile, with psychomotor retardation; IHPMR|IHPMR	http://purl.obolibrary.org/obo/MONDO_0014784	Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.	UMLS:C4225196|http://identifiers.org/omim/616816|ORPHA:467176
MONDO:0012128	dextro-looped transposition of the great arteries 1	biolink:Disease	mondo	GARD:0007795|UMLS:C1837341|OMIM:608808|MESH:C563853|ICD10:Q20.3|DOID:0060771		D-TGA|transposition of the great arteries, dextro-looped type 1|dextro-looped transposition of the great arteries type 1|transposition of the great arteries, dextro-looped 1; DTGA1|MED13L dextro-looped transposition of the great arteries|DTGA1|dextro-looped transposition of the great arteries caused by mutation in MED13L|transposition of the great arteries, dextro-looped 1	http://purl.obolibrary.org/obo/MONDO_0012128	Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the MED13L gene.	http://identifiers.org/omim/608808|UMLS:C1837341|DOID:0060771|MESH:C563853
MONDO:0012129	leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema	biolink:Disease	mondo	OMIM:608809|MESH:C563852|UMLS:C1837329|GARD:0010065	gard_rare	LACH|leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema; LACH|leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema	http://purl.obolibrary.org/obo/MONDO_0012129		http://identifiers.org/omim/608809|UMLS:C1837329|MESH:C563852
MONDO:0012126	familial avascular necrosis of femoral head	biolink:Disease	mondo	OMIMPS:608805|UMLS:CN206226|NCIT:C35480|SCTID:715657008|GARD:0010914|MESH:D005271|ICD10:M87.8|Orphanet:86820	gard_rare|ordo_disease|prototype_pattern	aseptic Necrosis of head of femur|avascular NECROSIS of femoral head, primary, 1; ANFH1|ANFH|familial osteonecrosis of the femoral head|ischemic Necrosis of femoral head|femoral head, avascular Necrosis of|avascular Necrosis of femoral head, primary, 1|femoral head, aseptic Necrosis of|aseptic Necrosis of femoral head|osteonecrosis of femoral head|avascular NECROSIS of femoral head, primary|ANFH1|avascular NECROSIS of femoral head, primary; ANFH|familial avascular necrosis of the femoral head|primary avascular necrosis of the femoral head	http://purl.obolibrary.org/obo/MONDO_0012126	Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterised by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty.	NCIT:C35480|http://identifiers.org/omim/608805|ORPHA:86820|UMLS:CN206226|MESH:D005271|SNOMEDCT:715657008
MONDO:0014789	CCDC115-CDG	biolink:Disease	mondo	OMIM:616828|DOID:0070267|Orphanet:468684	ordo_disease	congenital disorder of glycosylation type IIo|CDG syndrome type IIo|congenital disorder of glycosylation type 2o|CDG2O|congenital disorder of glycosylation, type IIo|carbohydrate deficient glycoprotein syndrome type IIo|CDG-IIo|congenital disorder of glycosylation, type IIo; CDG2O|CDG IIo	http://purl.obolibrary.org/obo/MONDO_0014789		DOID:0070267|ORPHA:468684|http://identifiers.org/omim/616828
MONDO:0014788	autosomal recessive limb-girdle muscular dystrophy type 2W	biolink:Disease	mondo	UMLS:C4225192|OMIM:616827|Orphanet:466801|DOID:0110288	ordo_disease	muscular dystrophy, limb-girdle, type 2W|LIMS2 autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy, limb-girdle, type 2W; LGMD2W|LGMD2W|autosomal recessive limb-girdle muscular dystrophy caused by mutation in LIMS2|muscular dystrophy, limb-girdle, type 2w	http://purl.obolibrary.org/obo/MONDO_0014788	Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration.	ORPHA:466801|UMLS:C4225192|DOID:0110288|http://identifiers.org/omim/616827
MONDO:0012127	autosomal recessive limb-girdle muscular dystrophy type 2J	biolink:Disease	mondo	ICD10:G71.0|MESH:C563854|DOID:0110283|UMLS:C1837342|OMIM:608807|Orphanet:140922|GARD:0012534	ordo_disease	muscular dystrophy, limb-girdle, type 2J; LGMD2J|TTN autosomal recessive limb-girdle muscular dystrophy|LGMD2J|autosomal recessive limb-girdle muscular dystrophy caused by mutation in TTN|muscular dystrophy, limb-girdle, type 2J|limb-girdle muscular dystrophy type 2J	http://purl.obolibrary.org/obo/MONDO_0012127	Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.	http://identifiers.org/omim/608807|ORPHA:140922|DOID:0110283|UMLS:C1837342|MESH:C563854
GO:0120111	neuron projection cytoplasm	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0120111	All of the contents of a plasma membrane bounded neuron projection, excluding the plasma membrane surrounding the projection.	
HGNC:15984	APTX	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15984		
MONDO:0000129	glutaric aciduria (disease)	biolink:Disease	mondo	SCTID:28987007|HP:0003150|DC:0000526|HP:0003530|ICD9:270.8|UMLS:C0268594		glutaric acidemia|glutaric aciduria	http://purl.obolibrary.org/obo/MONDO_0000129		UMLS:C0268594|SNOMEDCT:28987007
MONDO:0014783	preimplantation embryonic lethality 1	biolink:Disease	mondo	OMIM:616814|UMLS:C4225197		preimplantation embryonic lethality caused by mutation in TLE6|PREMBL1|preimplantation embryonic lethality 1|preimplantation embryonic lethality 1; PREMBL1|Prembl|preimplantation embryonic lethality type 1|TLE6 preimplantation embryonic lethality	http://purl.obolibrary.org/obo/MONDO_0014783	Any preimplantation embryonic lethality in which the cause of the disease is a mutation in the TLE6 gene.	UMLS:C4225197|http://identifiers.org/omim/616814
MONDO:0012120	pyruvate dehydrogenase phosphatase deficiency	biolink:Disease	mondo	UMLS:C1837429|ICD10:E74.4|MESH:C536258|Orphanet:79246|GARD:0009888|OMIM:608782	gard_rare|ordo_clinical_subtype	pyruvate dehydrogenase phosphatase deficiency|PDHPD|pyruvate dehydrogenase phosphatase deficiency; PDHPD|lactic acidemia with pyruvate dehydrogenase phosphatase deficiency|PDH phosphatase deficiency	http://purl.obolibrary.org/obo/MONDO_0012120	Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period.	http://identifiers.org/omim/608782|MESH:C536258|ORPHA:79246|UMLS:C1837429
MONDO:0012121	OTSC5	biolink:Disease	mondo	OMIM:608787|MESH:C563858|UMLS:C1837422		otosclerosis 5|OTSC5|otosclerosis 5; OTSC5	http://purl.obolibrary.org/obo/MONDO_0012121		http://identifiers.org/omim/608787|UMLS:C1837422|MESH:C563858
MONDO:0014782	autosomal recessive limb-girdle muscular dystrophy type 2X	biolink:Disease	mondo	DOID:0110290|UMLS:C4225199|Orphanet:476084|OMIM:616812	ordo_disease	BVES autosomal recessive limb-girdle muscular dystrophy|LGMD2X|muscular dystrophy, limb-girdle, type 2X|muscular dystrophy, limb-girdle, type 2x|autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome|muscular dystrophy, limb-girdle, type 2X; LGMD2X|autosomal recessive limb-girdle muscular dystrophy caused by mutation in BVES	http://purl.obolibrary.org/obo/MONDO_0014782	Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers.	UMLS:C4225199|ORPHA:476084|DOID:0110290|http://identifiers.org/omim/616812
MONDO:0014781	combined oxidative phosphorylation deficiency 29	biolink:Disease	mondo	OMIM:616811|UMLS:C4225200|DOID:0111501		TXN2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency 29|combined oxidative phosphorylation deficiency 29; COXPD29|combined oxidative phosphorylation deficiency caused by mutation in TXN2|COXPD29|combined oxidative phosphorylation deficiency type 29	http://purl.obolibrary.org/obo/MONDO_0014781	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TXN2 gene.	UMLS:C4225200|DOID:0111501|http://identifiers.org/omim/616811
MONDO:0014780	hyperphosphatasia with intellectual disability syndrome 6	biolink:Disease	mondo	UMLS:C4225201|OMIM:616809		hyperphosphatasia with mental retardation syndrome type 6|glycosylphosphatidylinositol biosynthesis defect 12|hyperphosphatasia with mental retardation syndrome 6|hyperphosphatasia with intellectual disability syndrome 6; HPMRS6|hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGY|hyperphosphatasia with intellectual disability syndrome type 6|HPMRS6|PIGY hyperphosphatasia-intellectual disability syndrome|hyperphosphatasia with intellectual disability syndrome 6	http://purl.obolibrary.org/obo/MONDO_0014780	Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGY gene.	UMLS:C4225201|http://identifiers.org/omim/616809
HP:0011461	Fetal onset	biolink:PhenotypicFeature	mondo	UMLS:C4023347		Foetal onset	http://purl.obolibrary.org/obo/HP_0011461	Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks).	
MONDO:0000146	obsolete progeroid syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000146		
MONDO:0026754	obsolete histidinuria-renal tubular defect syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0026754		
MONDO:0000145	obsolete premature aging syndrome	biolink:Disease	mondo	DC:0000581			http://purl.obolibrary.org/obo/MONDO_0000145		
HP:0011463	Childhood onset	biolink:PhenotypicFeature	mondo	UMLS:C1837352		Symptoms begin in childhood	http://purl.obolibrary.org/obo/HP_0011463	Onset of disease at the age of between 1 and 5 years.	
MONDO:0000144	pregnancy loss, recurrent, susceptibility	biolink:Disease	mondo	DC:0000580	predisposition		http://purl.obolibrary.org/obo/MONDO_0000144		
MONDO:0000143	obsolete multiple mitochondrial dysfunctions syndrome	biolink:Disease	mondo	DC:0000566			http://purl.obolibrary.org/obo/MONDO_0000143		
GO:0051703	biological process involved in intraspecies interaction between organisms	biolink:OntologyClass	mondo			intraspecies interaction between organisms|intraspecies interaction with other organisms	http://purl.obolibrary.org/obo/GO_0051703	Any process in which an organism has an effect on an organism of the same species.	
MONDO:0000149	obsolete retinopathy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000149		
MONDO:0000148	pulmonary fibrosis and/or bone marrow failure, telomere-related	biolink:Disease	mondo	UMLS:CN262497|OMIMPS:614742|DC:0000590			http://purl.obolibrary.org/obo/MONDO_0000148		UMLS:CN262497
MONDO:0000147	polyposis	biolink:Disease	mondo	DC:0000587|NCIT:C4089|UMLS:C0334108		polyposis|multiple polyps	http://purl.obolibrary.org/obo/MONDO_0000147		NCIT:C4089|UMLS:C0334108
GO:0051707	response to other organism	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0051707	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from another living organism.	
MONDO:0012108	spondyloepimetaphyseal dysplasia, matrilin-3 type	biolink:Disease	mondo	UMLS:C1837481|MESH:C563869|OMIM:608728|ICD10:Q77.7|Orphanet:156728|SCTID:719166003|GARD:0010611	ordo_disease	SEMD, MATN3-related|spondyloepimetaphyseal dysplasia matrilin-3 related|SEMD, MATN3-related|spondyloepimetaphyseal dysplasia, matrilin-3 related|spondyloepimetaphyseal dysplasia matrilin-3 type|SEMD, matrilin-3 type|SEMD MATN3-related	http://purl.obolibrary.org/obo/MONDO_0012108	Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.	UMLS:C1837481|MESH:C563869|ORPHA:156728|http://identifiers.org/omim/608728|SNOMEDCT:719166003
GO:0051704	multi-organism process	biolink:OntologyClass	mondo			physiological interaction with other organism|physiological interaction between organisms|interaction between organisms	http://purl.obolibrary.org/obo/GO_0051704	A biological process which involves another organism of the same or different species.	
GO:0051705	obsolete multi-organism behavior	biolink:OntologyClass	mondo			behavioral signalling|behavioural interaction with other organism|behavioural interaction between organisms|behavioral signaling|behavioral interaction with other organism|behavioral interaction between organisms	http://purl.obolibrary.org/obo/GO_0051705	OBSOLETE. Any process in which an organism has a behavioral effect on another organism of the same or different species.	
MONDO:0012109	hypertension, essential, susceptibility to, 4	biolink:Disease	mondo	OMIM:608742|UMLS:C1837479	predisposition	hypertension, essential, susceptibility to, 4|hypertension, essential, susceptibility to, type 4|Hyt4	http://purl.obolibrary.org/obo/MONDO_0012109		UMLS:C1837479|http://identifiers.org/omim/608742
MONDO:0000142	obsolete multiple congenital anomalies-hypotonia-seizures syndrome	biolink:Disease	mondo	DC:0000565			http://purl.obolibrary.org/obo/MONDO_0000142		
MONDO:0000141	mosaic variegated aneuploidy syndrome	biolink:Disease	mondo	ICD10:Q99.8|DC:0000564|Orphanet:1052|UMLS:C1850343|SCTID:700056005|ICD9:758.89|NCIT:C128192|OMIMPS:257300|MESH:C536987|GARD:0003007	ordo_malformation_syndrome	MVA1|Warburton-Anyane-Yeboa syndrome|Mosaic variegated aneuploidy syndrome 1	http://purl.obolibrary.org/obo/MONDO_0000141	Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.	ORPHA:1052|NCIT:C128192|MESH:C536987|SNOMEDCT:700056005|UMLS:C1850343
MONDO:0000140		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000140		
MONDO:0012113	EIG3	biolink:Disease	mondo	OMIM:608762|DOID:0111318	predisposition	EIG3|epilepsy, idiopathic generalized, susceptibility to, 3; EIG3|epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 9|epilepsy, idiopathic generalized, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0012113		http://identifiers.org/omim/608762|DOID:0111318
MONDO:0014776	spinocerebellar ataxia type 42	biolink:Disease	mondo	UMLS:C4225205|Orphanet:458803|ICD10:G11.8|OMIM:616795|NCIT:C171269|DOID:0111742|EFO:0009059	ordo_disease	spinocerebellar ataxia type 42|spinocerebellar ataxia 42; SCA42|spinocerebellar ataxia 42|SCA42	http://purl.obolibrary.org/obo/MONDO_0014776		UMLS:C4225205|DOID:0111742|NCIT:C171269|ORPHA:458803|http://identifiers.org/omim/616795
MONDO:0012114	Ehlers-Danlos syndrome, Beasley-Cohen type	biolink:Disease	mondo	OMIM:608763|UMLS:C1837462|MESH:C536199	n_of_one	Ehlers-Danlos syndrome with intellectual disability, deafness, and cataract|Ehlers-Danlos syndrome with mental retardation, deafness, and cataract|Ehlers-Danlos syndrome, Beasley-Cohen type	http://purl.obolibrary.org/obo/MONDO_0012114		http://identifiers.org/omim/608763|MESH:C536199|UMLS:C1837462
MONDO:0014775	combined oxidative phosphorylation deficiency 28	biolink:Disease	mondo	OMIM:616794|UMLS:C4225206|DOID:0111470|Orphanet:466784	ordo_disease	combined oxidative phosphorylation deficiency 28; COXPD28|combined oxidative phosphorylation deficiency 28; COXPD28|COXPD28|combined oxidative phosphorylation deficiency 28|neonatal severe cardiopulmonary failure due to mitochondrial methylation defect|SLC25A26 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency type 28|combined oxidative phosphorylation defect type 28|combined oxidative phosphorylation deficiency caused by mutation in SLC25A26	http://purl.obolibrary.org/obo/MONDO_0014775	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SLC25A26 gene.	ORPHA:466784|UMLS:C4225206|DOID:0111470|http://identifiers.org/omim/616794
HGNC:13339	KIF4A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13339		
CHEBI:63248	oxidising agent	biolink:ChemicalSubstance	mondo			oxidiser|oxidising agents|oxidisers|oxidant|oxidizer|oxidizing agent|oxidizers|oxidizing agents|oxidants	http://purl.obolibrary.org/obo/CHEBI_63248	A substance that removes electrons from another reactant in a redox reaction.	
MONDO:0012111	hypertrophic cardiomyopathy 8	biolink:Disease	mondo	MESH:C563866|UMLS:C1837471|DOID:0110314|OMIM:608751		cardiomyopathy, familial hypertrophic, 8; CMH8|hypertrophic cardiomyopathy type 8|cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 1|cardiomyopathy, familial hypertrophic, 8|cardiomyopathy hypertrophic mid-left ventricular chamber type 1|MYL3 hypertrophic cardiomyopathy|hypertrophic cardiomyopathy caused by mutation in MYL3|cardiomyopathy, familial hypertrophic, type 8|CMH8	http://purl.obolibrary.org/obo/MONDO_0012111	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL3 gene.	http://identifiers.org/omim/608751|DOID:0110314|UMLS:C1837471|MESH:C563866
MONDO:0014774	neuroblastoma, susceptibility to, 7	biolink:Disease	mondo	OMIM:616792	predisposition	neuroblastoma, susceptibility to, 7; NBLST7|neuroblastoma, susceptibility to, type 7|NBLST7|neuroblastoma, susceptibility to, 7	http://purl.obolibrary.org/obo/MONDO_0014774		http://identifiers.org/omim/616792
MONDO:0014773	cardiac anomalies - developmental delay - facial dysmorphism syndrome	biolink:Disease	mondo	UMLS:C4225208|OMIM:616789|ICD10:Q87.8|GARD:0012999|Orphanet:369891|HGNC:22962	gard_rare|ordo_malformation_syndrome	mental retardation and distinctive FACIAL features with or without CARDIAC defects; MRFACD|MED13L syndrome|intellectual disability and distinctive facial features with or without cardiac defects|MED13L haploinsufficiency syndrome|mental retardation and distinctive Facial features with or without Cardiac defects|cardiac anomalies - developmental delay - facial dysmorphism syndrome|intellectual disability and distinctive FACIAL features with or without CARDIAC defects; MRFACD|MRFACD|intellectual disability and distinctive Facial features with or without Cardiac defects	http://purl.obolibrary.org/obo/MONDO_0014773		UMLS:C4225208|ORPHA:369891|http://identifiers.org/omim/616789
MONDO:0012112	hypertrophic cardiomyopathy 10	biolink:Disease	mondo	MESH:C563865|OMIM:608758|UMLS:C1834460|DOID:0110316		cardiomyopathy, familial hypertrophic, type 10|cardiomyopathy, familial hypertrophic, 10|cardiomyopathy, familial hypertrophic, 10; CMH10|CMH10|MYL2 hypertrophic cardiomyopathy|cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 2|hypertrophic cardiomyopathy caused by mutation in MYL2|hypertrophic cardiomyopathy type 10	http://purl.obolibrary.org/obo/MONDO_0012112	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL2 gene.	UMLS:C1834460|http://identifiers.org/omim/608758|DOID:0110316|MESH:C563865
MONDO:0012117	ALG9-CDG	biolink:Disease	mondo	UMLS:C2931006|ICD10:E77.8|DOID:0080564|SCTID:720978005|Orphanet:79328|OMIM:608776|GARD:0009839|MESH:C535750	ordo_disease	congenital disorder of glycosylation type IL|congenital disorder of glycosylation type 1L|CDG-IL|ALG9-CDG (CDG-IL)|mannosyltransferase 7-9 deficiency|CDG1L|congenital disorder of glycosylation, type IL|CDG syndrome type IL|carbohydrate deficient glycoprotein syndrome type IL|carbohydrate deficient glycoprotein syndrome type 1L|congenital disorder of glycosylation, type IL; CDG1L|CDG 1L|CDG IL	http://purl.obolibrary.org/obo/MONDO_0012117	(11q23).	SNOMEDCT:720978005|http://identifiers.org/omim/608776|DOID:0080564|ORPHA:79328|MESH:C535750|UMLS:C2931006
MONDO:0014779	Wilms tumor 6	biolink:Disease	mondo	OMIM:616806		WT6|WT6|Wilms tumor 6; WT6|Wilms tumor type 6|Wilms tumor 6	http://purl.obolibrary.org/obo/MONDO_0014779	Any Wilms tumor in which the cause of the disease is a mutation in the REST gene.	http://identifiers.org/omim/616806
MONDO:0012118	COG7-CDG	biolink:Disease	mondo	ICD10:E77.8|Orphanet:79333|GARD:0009842|OMIM:608779|MESH:C535754|SCTID:717773005	ordo_disease	congenital disorder of glycosylation type IIe|CDG syndrome type IIe|congenital disorder of glycosylation type 2e|COG7-CDG (CDG-IIe)|CDG IIe|CDG2E|carbohydrate deficient glycoprotein syndrome type IIe|CDG-IIe|congenital disorder of glycosylation, type IIe; CDG2E|congenital disorder of glycosylation, type IIe|CDG 2E	http://purl.obolibrary.org/obo/MONDO_0012118	COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.	http://identifiers.org/omim/608779|SNOMEDCT:717773005|ORPHA:79333|MESH:C535754
MONDO:0014778	Lamb-Shaffer syndrome	biolink:Disease	mondo	OMIM:616803|UMLS:C4225202|Orphanet:530983	ordo_disease	Lamb-Shaffer syndrome; LAMSHF|LAMSHF|Lamb-Shaffer syndrome	http://purl.obolibrary.org/obo/MONDO_0014778		http://identifiers.org/omim/616803|UMLS:C4225202|ORPHA:530983
MONDO:0012115	scoliosis, isolated, susceptibility to, 3	biolink:Disease	mondo	OMIM:608765	predisposition	scoliosis, isolated, susceptibility to, 3; IS3|scoliosis, isolated, susceptibility to, 3|IS3	http://purl.obolibrary.org/obo/MONDO_0012115		http://identifiers.org/omim/608765
HGNC:15999	SELENON	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15999		
MONDO:0012116	spinocerebellar ataxia type 8	biolink:Disease	mondo	UMLS:C4275024|DOID:0050959|Orphanet:98760|SCTID:715753001|ICD10:G11.2|UMLS:C1837454|GARD:0004956|OMIM:608768	ordo_disease	spinocerebellar ataxia 8|spinocerebellar ataxia type 8|SCA8|spinocerebellar ataxia 8; SCA8	http://purl.obolibrary.org/obo/MONDO_0012116	Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients.	UMLS:C4275024|MESH:C537307|http://identifiers.org/omim/608768|ORPHA:98760|SNOMEDCT:715753001|DOID:0050959|UMLS:C1837454
MONDO:0014777	hypotonia, infantile, with psychomotor retardation and characteristic facies 2	biolink:Disease	mondo	UMLS:C4225203|OMIM:616801		hypotonia, infantile, with psychomotor retardation and characteristic facies type 2|hypotonia, infantile, with psychomotor retardation and characteristic facies 2|UNC80 hypotonia, infantile, with psychomotor retardation and characteristic facies|hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in UNC80|hypotonia, infantile, with psychomotor retardation and characteristic facies 2; IHPRF2|IHPRF2	http://purl.obolibrary.org/obo/MONDO_0014777	Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the UNC80 gene.	http://identifiers.org/omim/616801|UMLS:C4225203
HGNC:15993	CHST8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15993		
GO:0036161	calcitonin secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0036161	The regulated release of calcitonin, a peptide hormone that participates in calcium and phosphorus metabolism, from a cell.	
MONDO:0014772	orofacial cleft 15	biolink:Disease	mondo	OMIM:616788|DOID:0080408		cleft lip/palate caused by mutation in DLX4|DLX4 cleft lip/palate|orofacial cleft 15|orofacial cleft type 15|OFC15	http://purl.obolibrary.org/obo/MONDO_0014772	Any cleft lip/palate in which the cause of the disease is a mutation in the DLX4 gene.	DOID:0080408|http://identifiers.org/omim/616788
MONDO:0014771	Joubert syndrome 26	biolink:Disease	mondo	UMLS:C4084843|OMIM:616784|DOID:0110995		Joubert syndrome 26; JBTS26|KIAA0556 Joubert syndrome|JBTS26|Joubert syndrome caused by mutation in KIAA0556|Joubert syndrome 26|Joubert syndrome type 26	http://purl.obolibrary.org/obo/MONDO_0014771	Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0556 gene.	DOID:0110995|UMLS:C4084843|http://identifiers.org/omim/616784
MONDO:0012110	growth delay due to insulin-like growth factor type 1 deficiency	biolink:Disease	mondo	ICD10:E34.3|Orphanet:73272|GARD:0010627|UMLS:C4518327|OMIM:608747|SCTID:724385009|UMLS:C1837475|MESH:C563867	ordo_disease	IGF-1 deficiency|insulin-like growth Factor 1 deficiency|growth retardation with sensorineural deafness and intellectual disability|growth retardation with sensorineural deafness and mental retardation|primary insulin-like growth factor deficiency|growth delay-deafness- intellectual disability syndrome|IGF1 deficiency|insulin-like growth factor I deficiency	http://purl.obolibrary.org/obo/MONDO_0012110	Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.	ORPHA:73272|http://identifiers.org/omim/608747|UMLS:C1837475|MESH:C563867|SNOMEDCT:724385009|UMLS:C4518327
MONDO:0014770	Joubert syndrome 25	biolink:Disease	mondo	DOID:0110994|UMLS:C4084842|OMIM:616781		Joubert syndrome caused by mutation in CEP104|CEP104 Joubert syndrome|JBTS25|Joubert syndrome 25|Joubert syndrome type 25|Joubert syndrome 25; JBTS25	http://purl.obolibrary.org/obo/MONDO_0014770	Any Joubert syndrome in which the cause of the disease is a mutation in the CEP104 gene.	UMLS:C4084842|DOID:0110994|http://identifiers.org/omim/616781
NCBITaxon:12475	Hepatitis delta virus	organism taxon	mondo	GC_ID:1		HDV|Hepatitis D virus|hepatitis delta virus HDV	http://purl.obolibrary.org/obo/NCBITaxon_12475		
ENVO:01001689	mass of gas	biolink:OntologyClass	mondo			gaseous mass	http://purl.obolibrary.org/obo/ENVO_01001689	An object which is composed primarily of a gas.	
MONDO:0000199	obsolete familial adenomatous polyposis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000199		
MONDO:0000198	obsolete linear skin defects with multiple congenital anomalies	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000198		
ENVO:01001686	mass of environmental material	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001686	An object which is composed primarily of an environmental material	
ENVO:01001688	mass of fluid	biolink:OntologyClass	mondo			fluid mass	http://purl.obolibrary.org/obo/ENVO_01001688	An object which is composed primarily of a fluid.	
ENVO:01001687	mass of solid material	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001687	An object which is composed primarily of a solid environmental material	
MONDO:0000193	cortisone reductase deficiency	biolink:Disease	mondo	ICD9:277.6|OMIMPS:604931|DOID:0090139|ICD10:E25.8|GARD:0009882|DC:0000697|SCTID:124138004|UMLS:CN200166|MESH:C536447|Orphanet:168588	ordo_malformation_syndrome|gard_rare	deficiency of (R)-20-hydroxysteroid dehydrogenase|deficiency of cortisone reductase|11-alpha beta-hydroxysteroid dehydrogenase type I deficiency of|CORTRD|hyperandrogenism due to cortisone reductase deficiency|HSD 11B1 deficiency|11-beta-hydroxysteroid dehydrogenase deficiency type 1	http://purl.obolibrary.org/obo/MONDO_0000193	A disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via 11beta-HSD1. The resulting lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in childhood with precocious pseudopuberty and females presenting in adolescence and early adulthood with hirsutism, oligoamenorrhea, and infertility.	SNOMEDCT:124138004|ORPHA:168588|UMLS:CN200166|MESH:C536447|DOID:0090139
MONDO:0000192	polyglucosan body myopathy	biolink:Disease	mondo	UMLS:CN228160|DC:0000696|OMIMPS:615895			http://purl.obolibrary.org/obo/MONDO_0000192		UMLS:CN228160
MONDO:0000191	obsolete renal hypodysplasia/aplasia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000191		
MONDO:0000190	ventricular fibrillation (disease)	biolink:Disease	mondo	COHD:437894|SCTID:71908006|UMLS:C0042510|ICD9:427.41|DC:0000692|MESH:D014693|NCIT:C50799|EFO:0004287|HP:0001663		ventricular fibrillation|VFib|VF|fibrillation, ventricular	http://purl.obolibrary.org/obo/MONDO_0000190	A disorder characterized by an electrocardiographic finding of a rapid grossly irregular ventricular rhythm with marked variability in QRS cycle length, morphology, and amplitude. The rate is typically greater than 300 bpm. (CDISC)	SNOMEDCT:71908006|MESH:D014693|UMLS:C0042510|NCIT:C50799
GO:0051716	cellular response to stimulus	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0051716	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus by a cell and ends with a change in state or activity or the cell.	
MONDO:0000197	obsolete singleton-Merten syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000197		
MONDO:0000196	obsolete ataxia-oculomotor apraxia	biolink:Disease	mondo	DC:0000702			http://purl.obolibrary.org/obo/MONDO_0000196		
MONDO:0000195	obsolete atrial standstill	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000195		
MONDO:0000194	obsolete Otofaciocervical syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000194		
HGNC:15968	GDAP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15968		
MONDO:0012188	neuronal ceroid lipofuscinosis 9	biolink:Disease	mondo	DOID:0110733|OMIM:609055|Orphanet:228357|GARD:0006618|ICD10:E75.4|MESH:C537953	gard_rare|ordo_etiological_subtype	CLN9|ceroid lipofuscinosis, neuronal, 9; CLN9|neuronal ceroid lipofuscinosis type 9|CLN 9|ceroid lipofuscinosis, neuronal, 9|CLN9 disease	http://purl.obolibrary.org/obo/MONDO_0012188	Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9-NCLis unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.	DOID:0110733|ORPHA:228357|http://identifiers.org/omim/609055|MESH:C537953
MONDO:0012189	obsolete Amish infantile epilepsy syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0012189		
HGNC:15964	DAZ2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15964		
HGNC:15965	DAZ3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15965		
MONDO:0012182	skeletal dysplasia, rhizomelic, with retinitis pigmentosa	biolink:Disease	mondo	OMIM:609047|UMLS:C1836898|MESH:C563806		skeletal dysplasia, rhizomelic, with retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0012182		MESH:C563806|UMLS:C1836898|http://identifiers.org/omim/609047
ENVO:01001682	air mass	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001682	An object which is composed of a continuous mass of air.	
MONDO:0012183	melanoma, cutaneous malignant, susceptibility to, 3	biolink:Disease	mondo	OMIM:609048	predisposition	melanoma, cutaneous malignant, susceptibility to, 3; CMM3|melanoma, cutaneous malignant, susceptibility to, type 3|melanoma, cutaneous malignant, susceptibility to, 3|susceptibility to cutaneous malignant melanoma 3|CMM3	http://purl.obolibrary.org/obo/MONDO_0012183		http://identifiers.org/omim/609048
ENVO:01001681	weather front	biolink:OntologyClass	mondo			meteorological front	http://purl.obolibrary.org/obo/ENVO_01001681	A gaseous front which separates two masses of air with different densities and is a principal cause of meteorological phenomena.	
ENVO:01001684	interface layer	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001684	A layer which separates two portions of environmental material which possess 1) differing compositions, 2) a discontinuity of some property, or 3) some derivative of some property in a direction normal to the interface.	
MONDO:0012180	arrhythmogenic right ventricular dysplasia 9	biolink:Disease	mondo	DOID:0110077|ICD10:I42.8|MESH:C563808|UMLS:C1836906|OMIM:609040		ARVD9|PKP2 familial isolated arrhythmogenic right ventricular dysplasia|arrhythmogenic right ventricular cardiomyopathy 9|arrhythmogenic right ventricular dysplasia, familial, 9|ARVC9|familial arrhythmogenic right ventricular dysplasia 9|arrhythmogenic right ventricular dysplasia type 9|familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in PKP2|arrhythmogenic right ventricular dysplasia, familial, 9; ARVD9|arrhythmogenic right ventricular dysplasia, familial, type 9	http://purl.obolibrary.org/obo/MONDO_0012180	Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the PKP2 gene.	MESH:C563808|UMLS:C1836906|http://identifiers.org/omim/609040|DOID:0110077
MONDO:0012181	hereditary spastic paraplegia 27	biolink:Disease	mondo	OMIM:609041|DOID:0110778|Orphanet:101007|MESH:C563807|ICD10:G11.4|UMLS:C1836899	ordo_disease	spastic paraplegia 27, autosomal recessive; SPG27|autosomal recessive spastic paraplegia type 27|spastic paraplegia 27, autosomal recessive|hereditary spastic paraplegia type 27|autosomal recessive spastic paraplegia 27|SPG27	http://purl.obolibrary.org/obo/MONDO_0012181	A hereditary spastic paraplegia that has material basis in variation in the chromosome region 10q22.1-q24.1.	MESH:C563807|UMLS:C1836899|http://identifiers.org/omim/609041|DOID:0110778|ORPHA:101007
ENVO:01001683	gaseous surface layer	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001683	A fluid surface layer which is composed primarily of some gaseous material.	
MONDO:0012186	Fanconi anemia complementation group I	biolink:Disease	mondo	MESH:C563802|UMLS:C1836861|OMIM:609053|NCIT:C129026|DOID:0111091		Fanconi anemia, complementation group I; FANCI|Fanconi anemia complementation group type I|Fanconi Anemia, complementation group type 1|Fanconi anemia, complementation group I|FANCI|Fanconi Anemia, complementation Group 1	http://purl.obolibrary.org/obo/MONDO_0012186	Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein.	MESH:C563802|UMLS:C1836861|http://identifiers.org/omim/609053|NCIT:C129026|DOID:0111091
MONDO:0012187	Fanconi anemia complementation group j	biolink:Disease	mondo	OMIM:609054|MESH:C563801|UMLS:C1836860|DOID:0111097|NCIT:C129027		Fanconi Anemia, complementation group type J|Fanconi anemia, complementation group J; FANCJ|FANCJ|Fanconi anemia, complementation group J|Fanconi anemia complementation group type J	http://purl.obolibrary.org/obo/MONDO_0012187	Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein.	MESH:C563801|UMLS:C1836860|http://identifiers.org/omim/609054|NCIT:C129027|DOID:0111097
MONDO:0012184	Pierson syndrome	biolink:Disease	mondo	GARD:0003945|ICD10:N04.8|GARD:0009420|SCTID:723449004|OMIM:609049|DOID:0060852|MESH:C537185|NCIT:C128145|Orphanet:2670|UMLS:C1836876	gard_rare|ordo_malformation_syndrome	microcoria-congenital nephrosis syndrome|Pierson syndrome|microcoria-congenital nephrotic syndrome|microcoria - congenital nephrotic syndrome|microcoria - congenital nephrosis	http://purl.obolibrary.org/obo/MONDO_0012184	Pierson syndrome is characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria.	DOID:0060852|UMLS:C1836876|http://identifiers.org/omim/609049|MESH:C537185|ORPHA:2670|NCIT:C128145|SNOMEDCT:723449004
ENVO:01001680	gaseous front	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001680	A fluid front which is composed primarily of gaseous material and separates at least two gaseous masses.	
MONDO:0012185	spondylometaphyseal dysplasia, A4 type	biolink:Disease	mondo	UMLS:C1836862|Orphanet:168555|MESH:C563803|OMIM:609052|GARD:0000458|ICD10:Q77.8	ordo_disease|gard_rare	spondylometaphyseal dysplasia type A4|spondylometaphyseal dysplasia A4 type|spondylometaphyseal dysplasia, type A4	http://purl.obolibrary.org/obo/MONDO_0012185		MESH:C563803|UMLS:C1836862|ORPHA:168555|http://identifiers.org/omim/609052
ENVO:01001679	fluid front	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001679	A fluid interface which separates two fluid masses with differing properties.	
ENVO:01001678	fluid layer	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001678	A layer which is composed primarily of some fluid.	
UBERON:0035371	retroperitoneal lymph node	biolink:AnatomicalEntity	mondo			retroperitoneal node	http://purl.obolibrary.org/obo/UBERON_0035371	A lymph node located in the retroperitoneal space.	
ENVO:01001677	fluid interface layer	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001677	A surface layer which separates two portions of fluid with respect to either 1) a discontinuity of some fluid property or 2) some derivative of one of these properties in a direction normal to the interface.	
GO:0051726	regulation of cell cycle	biolink:OntologyClass	mondo			cell cycle regulation|regulation of progression through cell cycle|control of cell cycle progression|modulation of cell cycle progression|regulation of cell cycle progression|cell cycle regulator|cell cycle modulation|tumor suppressor	http://purl.obolibrary.org/obo/GO_0051726	Any process that modulates the rate or extent of progression through the cell cycle.	
HGNC:15979	TP63	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15979		
MONDO:0012179	narcolepsy 3	biolink:Disease	mondo	OMIM:609039|UMLS:C1836907		narcolepsy 3; NRCLP3|NRCLP3|narcolepsy 3	http://purl.obolibrary.org/obo/MONDO_0012179		UMLS:C1836907|http://identifiers.org/omim/609039
MONDO:0012177	posterior column ataxia-retinitis pigmentosa syndrome	biolink:Disease	mondo	MESH:C536343|SCTID:724065003|Orphanet:88628|UMLS:C4510304|ICD10:G11.1|UMLS:C1836916|OMIM:609033|GARD:0009898	ordo_disease	autosomal recessive posterior column ataxia and retinitis pigmentosa|POSTERIOR column ataxia with retinitis pigmentosa; AXPC1|POSTERIOR column ataxia with retinitis pigmentosa|AXPC1|Pcarp|PCARP	http://purl.obolibrary.org/obo/MONDO_0012177	Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa.	UMLS:C4510304|UMLS:C1836916|http://identifiers.org/omim/609033|ORPHA:88628|SNOMEDCT:724065003|MESH:C536343
MONDO:0012178	intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature	biolink:Disease	mondo	OMIM:609037|MESH:C563810|UMLS:C1836915		intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature|mental retardation with optic atrophy, facial dysmorphism, microcephaly, and short stature	http://purl.obolibrary.org/obo/MONDO_0012178		MESH:C563810|UMLS:C1836915|http://identifiers.org/omim/609037
HGNC:15974	TRIM2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15974		
HGNC:15977	HES7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15977		
MONDO:0012171	marfanoid habitus with situs inversus	biolink:Disease	mondo	OMIM:609008|MESH:C563814|UMLS:C1836994		marfanoid habitus with situs inversus	http://purl.obolibrary.org/obo/MONDO_0012171		MESH:C563814|UMLS:C1836994|http://identifiers.org/omim/609008
HGNC:15971	TSG101	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15971		
MONDO:0012172	mitochondrial trifunctional protein deficiency	biolink:Disease	mondo	OMIM:609015|GARD:0003684|MESH:D024741|ICD10:G71.3|DOID:0111277|SCTID:237999008|Orphanet:746|NCIT:C98991|ICD9:277.85	gard_rare|ordo_disease	mitochondrial trifunctional protein deficiency|MTPD|trifunctional Protein deficiency|TFP deficiency|TFPD|trifunctional Protein deficiency with myopathy and neuropathy|mitochondrial trifunctional PROTEIN deficiency; MTPD	http://purl.obolibrary.org/obo/MONDO_0012172	Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..	NCIT:C98991|http://identifiers.org/omim/609015|DOID:0111277|ORPHA:746|UMLS:C0342786|SNOMEDCT:237999008|MESH:D024741
ENVO:01001673	fluid surface layer	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001673	A surface layer which is composed primarily of some liquid or gas.	
MONDO:0012170	autosomal recessive nonsyndromic deafness 36	biolink:Disease	mondo	MESH:C563815|ICD10:H90.3|DOID:0110494|OMIM:609006		deafness, autosomal recessive 36, with or without vestibular involvement; DFNB36|deafness, autosomal dominant, without vestibular involvement|autosomal recessive nonsyndromic deafness caused by mutation in ESPN|deafness, autosomal recessive 36, with or without vestibular involvement|ESPN autosomal recessive nonsyndromic deafness|DFNB36|autosomal recessive nonsyndromic deafness type 36|autosomal recessive deafness 36	http://purl.obolibrary.org/obo/MONDO_0012170	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESPN gene.	MESH:C563815|http://identifiers.org/omim/609006|DOID:0110494
MONDO:0012175	cataract 28	biolink:Disease	mondo	UMLS:C1836942|DOID:0110244|MESH:C563812|OMIM:609026		cataract 28|age-related cortical cataract 1|cataract, age-related cortical, 1|cataract 28; CTRCT28|ARCC1|cataract type 28|CTRCT28	http://purl.obolibrary.org/obo/MONDO_0012175	A cataract that has material basis in variation in the region 6p12-q12.	MESH:C563812|UMLS:C1836942|http://identifiers.org/omim/609026|DOID:0110244
MONDO:0012176	Emanuel syndrome	biolink:Disease	mondo	OMIM:609029|GARD:0009835|Orphanet:96170|MESH:C535733|UMLS:C1836929|SCTID:702417004|ICD9:758.5|ICD10:Q92.6	ordo_malformation_syndrome|gard_rare	Emanuel syndrome|supernumerary der(22) syndrome|Der(22)t(11;22) syndrome|supernumerary Der(22)T(11|supernumerary der(22),t(11;22) syndrome	http://purl.obolibrary.org/obo/MONDO_0012176	Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities.	MESH:C535733|UMLS:C1836929|http://identifiers.org/omim/609029|SNOMEDCT:702417004|ORPHA:96170
MONDO:0012173	long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	biolink:Disease	mondo	OMIM:609016|NCIT:C129929|GARD:0006867|ICD10:E71.3|UMLS:C3711645|SCTID:726021008|Orphanet:5|UMLS:CN239369|UMLS:CN074230	ordo_disease	long-chain 3-hydroxy acyl CoA dehydrogenase deficiency|LCHAD deficiency|LCHADD|trifunctional protein deficiency type 1|3-hydroxyacyl-CoA dehydrogenase long chain deficiency|long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency|long-chain 3-OH acyl-CoA dehydrogenase deficiency|long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0012173	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.	UMLS:C0342786|http://identifiers.org/omim/609016|UMLS:CN074230|UMLS:CN239369|NCIT:C129929|ORPHA:5|SNOMEDCT:726021008|UMLS:C3711645
MONDO:0012174	peripheral cone dystrophy	biolink:Disease	mondo	MESH:C563813|UMLS:C1836946|OMIM:609021		peripheral cone dystrophy	http://purl.obolibrary.org/obo/MONDO_0012174		MESH:C563813|UMLS:C1836946|http://identifiers.org/omim/609021
MONDO:0000179	Neu-Laxova syndrome	biolink:Disease	mondo	DC:0000672|MESH:C536405|NCIT:C14089|GARD:0000102|SCTID:77817004|UMLS:C0265218|ICD10:Q87.8|ICD9:759.89|OMIMPS:256520|Orphanet:2671	ordo_malformation_syndrome|gard_rare	Neu Laxova syndrome|NLS|nuclear localization signal	http://purl.obolibrary.org/obo/MONDO_0000179	Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.	UMLS:C0265218|SNOMEDCT:77817004|MESH:C536405|NCIT:C14089|ORPHA:2671
MONDO:0000178	obsolete breasts and/or nipples, aplasia or hypoplasia of	biolink:Disease	mondo	DC:0000671			http://purl.obolibrary.org/obo/MONDO_0000178		
MONDO:0000177	obsolete laryngeal abductor paralysis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000177		
NCBITaxon:12455	Borna disease virus	organism taxon	mondo	GC_ID:1|PMID:25449305		Borna disease virus BDV|BDV	http://purl.obolibrary.org/obo/NCBITaxon_12455		
MONDO:0000176	obsolete megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000176		
UBERON:0035383	lateral wall of nasopharynx	biolink:AnatomicalEntity	mondo			lateral nasopharynx	http://purl.obolibrary.org/obo/UBERON_0035383		
MONDO:0000171	muscular dystrophy-dystroglycanopathy, type A	biolink:Disease	mondo	ICD10:Q04.3|NCIT:C99109|DOID:0050560|SCTID:111504002|DC:0000659|OMIMPS:236670|UMLS:CN239483|GARD:0002599|MESH:D058494|Orphanet:899	ordo_disease	hard syndrome|cerebroocular dysgenesis|Warburg syndrome|Walker-Warburg muscular dystrophy|cerebroocular dysplasia muscular dystrophy syndrome|hydrocephalus-agyria-retinal dysplasia syndrome|Pagon syndrome|WWS|Chemke syndrome|hydrocephalus, agyria and retinal dysplasia|cerebroocular dysplasia-muscular dystrophy syndrome|hard +/- E syndrome|Walker-Warburg syndrome	http://purl.obolibrary.org/obo/MONDO_0000171		ORPHA:899|MESH:D058494|UMLS:CN239483|SNOMEDCT:111504002|DOID:0050560|NCIT:C99109
MONDO:0000170	microphthalmia, isolated, with coloboma	biolink:Disease	mondo	DC:0000658|OMIMPS:300345			http://purl.obolibrary.org/obo/MONDO_0000170		
MONDO:0000175	obsolete ataxia-telangiectasia-like disorder	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000175		
MONDO:0000174	obsolete split-hand/foot malformation with long bone deficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000174		
MONDO:0000173	muscular dystrophy-dystroglycanopathy, type C	biolink:Disease	mondo	UMLS:CN262500|OMIMPS:609308|DC:0000661			http://purl.obolibrary.org/obo/MONDO_0000173		UMLS:CN262500
MONDO:0000172	muscular dystrophy-dystroglycanopathy, type B	biolink:Disease	mondo	OMIMPS:613155|UMLS:CN228400|DC:0000660			http://purl.obolibrary.org/obo/MONDO_0000172		UMLS:CN228400
MONDO:0012168	dyslexia, susceptibility to, 8	biolink:Disease	mondo	OMIM:608995	predisposition	dyslexia, susceptibility to, 8|DYX8|dyslexia, susceptibility to, 8; DYX8	http://purl.obolibrary.org/obo/MONDO_0012168		http://identifiers.org/omim/608995
HGNC:15946	RP1L1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15946		
MONDO:0012169	premature ovarian failure 3	biolink:Disease	mondo	UMLS:C1837008|MESH:C563816|OMIM:608996		premature ovarian failure type 3|premature ovarian failure 3; Pof3|Pof3|premature ovarian failure 3	http://purl.obolibrary.org/obo/MONDO_0012169		http://identifiers.org/omim/608996|UMLS:C1837008|MESH:C563816
MONDO:0012166	autosomal dominant sensory ataxia 1	biolink:Disease	mondo	DOID:0111170|OMIM:608984|UMLS:C1837015		Adsa|SNAX1|ADSA|hereditary ataxia caused by mutation in RNF170|ataxia, sensory, 1, autosomal dominant; SNAX1|RNF170 hereditary ataxia|ataxia, sensory, 1, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0012166	Any hereditary ataxia in which the cause of the disease is a mutation in the RNF170 gene.	UMLS:C1837015|DOID:0111170|http://identifiers.org/omim/608984
MONDO:0012167	ATFB2	biolink:Disease	mondo	OMIM:608988|MESH:C563903|UMLS:C1837812		ATFB2|atrial fibrillation, familial, 2; ATFB2|atrial fibrillation, familial, 2	http://purl.obolibrary.org/obo/MONDO_0012167		http://identifiers.org/omim/608988|UMLS:C1837812|MESH:C563903
MONDO:0012160	spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	biolink:Disease	mondo	OMIM:608940|Orphanet:85167|MESH:C563825|GARD:0010647|ICD10:Q77.8|UMLS:C1837073	ordo_disease	spondylometaphyseal dysplasia with cone-rod dystrophy; SMDCRD|SMDCRD|spondylometaphyseal dysplasia with cone-rod dystrophy|SmD-CRD	http://purl.obolibrary.org/obo/MONDO_0012160	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.	MESH:C563825|ORPHA:85167|http://identifiers.org/omim/608940|UMLS:C1837073
MONDO:0012161	susceptibility to respiratory infections associated with CD8alpha chain mutation	biolink:Disease	mondo	UMLS:C1837065|MESH:C563824|SCTID:766983005|ICD10:D84.8|OMIM:608957|Orphanet:169085	ordo_disease|predisposition	CD8 deficiency, familial|familial CD8 deficiency	http://purl.obolibrary.org/obo/MONDO_0012161	Susceptibility to respiratory infections associated with CD8 alpha chain mutation is a rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes.	ORPHA:169085|SNOMEDCT:766983005|MESH:C563824|http://identifiers.org/omim/608957|UMLS:C1837065
MONDO:0012164	Meacham syndrome	biolink:Disease	mondo	SCTID:722461004|ICD10:Q87.8|OMIM:608978|Orphanet:3097|GARD:0003432|UMLS:C1837026	ordo_malformation_syndrome	Meacham-Winn-Culler syndrome|Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype|Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome|Meacham Winn Culler syndrome|Meacham syndrome	http://purl.obolibrary.org/obo/MONDO_0012164	Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations.	UMLS:C1837026|ORPHA:3097|SNOMEDCT:722461004|http://identifiers.org/omim/608978
MONDO:0012165	BNAR syndrome	biolink:Disease	mondo	SCTID:717940006|Orphanet:217266|MESH:C567672|OMIM:608980|UMLS:C4303547|ICD10:Q87.8|GARD:0010595|UMLS:C2750433	ordo_malformation_syndrome	bifid NOSE with or without anorectal and renal anomalies|BNAR|bifid nose with or without anorectal and renal anomalies|bifid NOSE with or without anorectal and renal anomalies; BNAR	http://purl.obolibrary.org/obo/MONDO_0012165	BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome.	UMLS:C4303547|SNOMEDCT:717940006|UMLS:C2750433|ORPHA:217266|MESH:C567672|http://identifiers.org/omim/608980
MONDO:0012162	patterned macular dystrophy 2	biolink:Disease	mondo	OMIM:608970|UMLS:C1837029|DOID:0060864		butterfly-shaped pigmentary maculary dystrophy 2|macular dystrophy, patterned, 2; MDPT2|macular dystrophy, patterned, 2|MDPT2|macular dystrophy, butterfly-Shaped pigmentary, 2|patterned macular dystrophy caused by mutation in CTNNA1|CTNNA1 patterned macular dystrophy|patterned macular dystrophy type 2|macular dystrophy, patterned, type 2	http://purl.obolibrary.org/obo/MONDO_0012162	Any patterned macular dystrophy in which the cause of the disease is a mutation in the CTNNA1 gene.	UMLS:C1837029|DOID:0060864|http://identifiers.org/omim/608970
MONDO:0012163	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive	biolink:Disease	mondo	UMLS:C1837028|ICD10:D81.2|MESH:C563822|DOID:0090014|OMIM:608971		autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID|SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive|severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive|autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID	http://purl.obolibrary.org/obo/MONDO_0012163	A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31.	DOID:0090014|UMLS:C1837028|MESH:C563822|http://identifiers.org/omim/608971
MONDO:0000189	obsolete Schindler disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000189		
MONDO:0000188	GLUT1 deficiency syndrome	biolink:Disease	mondo	DC:0000690|OMIMPS:606777		GLUT1DS	http://purl.obolibrary.org/obo/MONDO_0000188		
MONDO:0000187	obsolete ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000187		
ENVO:01001699	Arctic front	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001699	A polar front between the deep, cold Arctic air and the shallower, warmer polar air of northern latitudes on Earth.	
ENVO:01001698	polar front	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001698	A weather front which separates air masses of tropical and polar origin.	
MONDO:0000182	congenital myasthenic syndrome with tubular aggregates	biolink:Disease	mondo	OMIMPS:610542|DC:0000677|UMLS:CN228621		myasthenic syndrome, congenital, with tubular aggregates|CMS-TA	http://purl.obolibrary.org/obo/MONDO_0000182	A congenital myasthenic syndrome with a finding of tubular aggregates in myofibers.	UMLS:CN228621
MONDO:0000181	microcephaly and chorioretinopathy	biolink:Disease	mondo	DC:0000676|OMIMPS:251279|OMIMPS:251270			http://purl.obolibrary.org/obo/MONDO_0000181		
MONDO:0000180	obsolete inflammatory skin and bowel disease, neonatal	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000180		
UBERON:0035398	branch of external carotid artery	biolink:AnatomicalEntity	mondo			subdivision of external carotid artery|external carotid arterial subdivision	http://purl.obolibrary.org/obo/UBERON_0035398		
MONDO:0000186	obsolete spondyloepimetaphyseal dysplasia with joint laxity	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000186		
MONDO:0000185	obsolete polyposis syndrome, hereditary mixed	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000185		
MONDO:0000184	obsolete congenital vitamin K-dependent coagulation factors combined deficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000184		
MONDO:0000183	obsolete hypertrophic osteoarthropathy, primary	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000183		
MONDO:0012157	congenital myasthenic syndrome 4C	biolink:Disease	mondo	OMIM:608931|DOID:0110679|GARD:0010108		myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency|CMS Id|Cms Id, formerly|myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency|congenital myasthenic syndrome type Id|Cms Id|CMS4C|CMS1D|myasthenia, familial infantile, 1, formerly|congenital myasthenic syndrome associated with acetylcholine receptor deficiency|congenital myasthenic syndrome type 4C|familial infantile myasthenia 1|myasthenia, familial infantile, 1|FIM1|myasthenic syndrome, congenital, type Id|congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency|myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency; CMS4C	http://purl.obolibrary.org/obo/MONDO_0012157	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.	http://identifiers.org/omim/608931|DOID:0110679
MONDO:0012158	KTCN2	biolink:Disease	mondo	OMIM:608932|MESH:C563827|UMLS:C1837090		KTCN2|keratoconus 2; KTCN2|keratoconus 2	http://purl.obolibrary.org/obo/MONDO_0012158		http://identifiers.org/omim/608932|UMLS:C1837090|MESH:C563827
MONDO:0012155	choanal atresia	biolink:Disease	mondo	Orphanet:137914|COHD:256810|MedDRA:10008587|SCTID:204508009|OMIM:608911|ICD9:748.0|ICD10:Q30.0|DOID:9574|MESH:D002754	ordo_morphological_anomaly	atresia of nares|choanal atresia, POSTERIOR; PCA|posterior choanal atresia|choanal atresia, POSTERIOR|imperforate nares|PCA	http://purl.obolibrary.org/obo/MONDO_0012155	Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction.	SNOMEDCT:204508009|UMLS:C0008297|http://identifiers.org/omim/608911|DOID:9574|MEDDRA:10008587|MESH:D002754|ORPHA:137914
MONDO:0012156	myasthenic syndrome, congenital, 1B, fast-channel	biolink:Disease	mondo	UMLS:C4225405|DOID:0110662|OMIM:608930|UMLS:C1837122		CMS1B|congenital myasthenic syndrome 1B|myasthenic syndrome, congenital, 1B, fast-channel|CMS1B|congenital myasthenic syndrome 1B, fast-channel|congenital myasthenic syndrome type 1B|myasthenic syndrome, congenital, 1B, FAST-channel; CMS1B	http://purl.obolibrary.org/obo/MONDO_0012156	A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has material basis in mutation in the CHRNA1 gene on chromosome 2q.	http://identifiers.org/omim/608930|UMLS:C4225405|UMLS:C1837122|DOID:0110662
MONDO:0012159	LNCR1	biolink:Disease	mondo	OMIM:608935|UMLS:C1837089		lung cancer susceptibility 1|LNCR1|lung cancer susceptibility 1; LNCR1	http://purl.obolibrary.org/obo/MONDO_0012159		http://identifiers.org/omim/608935|UMLS:C1837089
HGNC:15954	TOE1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15954		
MONDO:0012150	attention deficit-hyperactivity disorder, susceptibility to, 2	biolink:Disease	mondo	OMIM:608904	predisposition	Adhd2|attention deficit-hyperactivity disorder, susceptibility to, 2|attention Deficit-hyperactivity disorder, susceptibility to, type 2	http://purl.obolibrary.org/obo/MONDO_0012150		http://identifiers.org/omim/608904
MONDO:0012153	Alzheimer disease 9	biolink:Disease	mondo	UMLS:C1837149|MESH:C563834|DOID:0111364|OMIM:608907		Alzheimer disease 9|Alzheimer disease 9, susceptibility to|Alzheimer disease 9, susceptibility to; AD9|AD9|Alzheimer disease 9, late-onset|Alzheimer disease 9; AD9	http://purl.obolibrary.org/obo/MONDO_0012153		http://identifiers.org/omim/608907|DOID:0111364|UMLS:C1837149|MESH:C563834
NCBITaxon:12461	Hepatitis E virus	organism taxon	mondo	GC_ID:1		HEV|Hepatitis E virus HEV	http://purl.obolibrary.org/obo/NCBITaxon_12461		
MONDO:0012154	myopia 6	biolink:Disease	mondo	GARD:0009937|MESH:C536105|OMIM:608908	gard_rare	MYP6|myopia, susceptibility to|myopia 6|SCO2 myopia (disease)|myopia type 6|myopia 6; MYP6|myopia (disease) caused by mutation in SCO2	http://purl.obolibrary.org/obo/MONDO_0012154	Any myopia in which the cause of the disease is a mutation in the SCO2 gene.	MESH:C536105|http://identifiers.org/omim/608908
ENVO:01001691	mass of compounded environmental materials	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001691	An mass of environmental materials which has appreciable quantities of several individual materials, such that the removal of one would convert the mass into a different entity.	
MONDO:0012151	attention deficit-hyperactivity disorder, susceptibility to, 3	biolink:Disease	mondo	OMIM:608905	predisposition	Adhd3|attention deficit-hyperactivity disorder, susceptibility to, 3|attention Deficit-hyperactivity disorder, susceptibility to, type 3	http://purl.obolibrary.org/obo/MONDO_0012151		http://identifiers.org/omim/608905
ENVO:01001690	mass of liquid	biolink:OntologyClass	mondo			liquid mass	http://purl.obolibrary.org/obo/ENVO_01001690	An object which is composed primarily of a liquid.	
MONDO:0012152	attention deficit-hyperactivity disorder, susceptibility to, 4	biolink:Disease	mondo	OMIM:608906	predisposition	Adhd4|attention deficit-hyperactivity disorder, susceptibility to, 4|attention Deficit-hyperactivity disorder, susceptibility to, type 4	http://purl.obolibrary.org/obo/MONDO_0012152		http://identifiers.org/omim/608906
MONDO:0002611	obsolete benign epilepsy with centrotemporal spikes	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002611		
MONDO:0002612	frontal lobe epilepsy	biolink:Disease	mondo	MESH:D017034|DOID:3331|UMLS:C0085541|SCTID:230394006		epilepsy of frontal lobe|frontal lobe epilepsy	http://purl.obolibrary.org/obo/MONDO_0002612	A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures). (From Adams et al., Principles of Neurology, 6th ed, pp318-9)	DOID:3331|MESH:D017034|UMLS:C0085541|SNOMEDCT:230394006
MONDO:0002613	histrionic personality disorder (disease)	biolink:Disease	mondo	ICD10:F60.4|NCIT:C92634|SCTID:55341008|DOID:334|ICD9:301.50|HP:0012077|ICD9:301.59|COHD:440369|ICD9:301.5|MESH:D006677		histrionic personality disorder	http://purl.obolibrary.org/obo/MONDO_0002613	A disorder characterized by an enduring pattern of excessively intense and superficial emotionality, attention seeking behavior, seductive appearance and speech, self dramatization and/or theatrical behavior.	NCIT:C92634|MESH:D006677|DOID:334|SNOMEDCT:55341008
MONDO:0002614	bone inflammation disease	biolink:Disease	mondo	DOID:3342|MESH:D010000|UMLS:C0029400|SCTID:274144001		osteitis|bone inflammatory disease|inflammatory disorder of bone	http://purl.obolibrary.org/obo/MONDO_0002614	Inflammation of the bone.	SNOMEDCT:274144001|DOID:3342|MESH:D010000|UMLS:C0029400
MONDO:0002610	purpura (disease)	biolink:Disease	mondo	MESH:D011693|ICD10:D69.2|UMLS:C0034150|HP:0000979|DOID:3326|SCTID:387778001		purpura|purpuric disorder	http://purl.obolibrary.org/obo/MONDO_0002610	A small blood vessel hemorrhage into the skin and/or mucous membranes. Newer lesions appear reddish in color. Older lesions are usually a darker purple color and eventually become a brownish-yellow color.	MESH:D011693|UMLS:C0034150|NCIT:C78787|SNOMEDCT:387778001|DOID:3326
MONDO:0014600	dyskeratosis congenita, autosomal recessive 6	biolink:Disease	mondo	OMIM:616353|UMLS:C4225356|DOID:0070024		dyskeratosis congenita, autosomal recessive 6|dyskeratosis congenita, autosomal recessive 6; DKCB6|dyskeratosis congenita caused by mutation in PARN|PARN dyskeratosis congenita|autosomal recessive dyskeratosis congenita 6|DKCB6|dyskeratosis congenita, autosomal recessive type 6	http://purl.obolibrary.org/obo/MONDO_0014600	Any dyskeratosis congenita in which the cause of the disease is a mutation in the PARN gene.	http://identifiers.org/omim/616353|DOID:0070024|UMLS:C4225356
HGNC:6116	IRF1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6116		
HGNC:8778	PDE3A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8778		
MONDO:0014604	Parkinson disease 21	biolink:Disease	mondo	UMLS:C4225353|OMIM:616361|DOID:0111251		Parkinson disease type 21|DNAJC13 hereditary late onset Parkinson disease|hereditary late onset Parkinson disease caused by mutation in DNAJC13|PARK21|Parkinson disease 21|Parkinson disease 21; PARK21	http://purl.obolibrary.org/obo/MONDO_0014604	Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the DNAJC13 gene.	http://identifiers.org/omim/616361|UMLS:C4225353|DOID:0111251
HGNC:6118	IRF3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6118		
MONDO:0014603	autosomal dominant nonsyndromic deafness 40	biolink:Disease	mondo	OMIM:616357|DOID:0110566|ICD10:H90.3|UMLS:C4084708		deafness, autosomal dominant 40|autosomal dominant nonsyndromic deafness caused by mutation in CRYM|deafness, autosomal dominant type 40|deafness, autosomal dominant 40; DFNA40|CRYM autosomal dominant nonsyndromic deafness|autosomal dominant deafness 40|autosomal dominant nonsyndromic deafness type 40|DFNA40	http://purl.obolibrary.org/obo/MONDO_0014603	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CRYM gene.	DOID:0110566|UMLS:C4084708|http://identifiers.org/omim/616357
MONDO:0014602	intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	biolink:Disease	mondo	UMLS:C4225354|DOID:0070065|Orphanet:457279|OMIM:616355	ordo_malformation_syndrome	mental retardation, autosomal dominant type 35|intellectual disability, autosomal dominant 35; MRD35|autosomal dominant mental retardation 35|intellectual disability, autosomal dominant 35|mental retardation, autosomal dominant 35; MRD35|mental retardation, autosomal dominant 35|autosomal dominant intellectual disability 35|intellectual disability, autosomal dominant type 35|autosomal dominant non-syndromic intellectual disability 35|MRD35	http://purl.obolibrary.org/obo/MONDO_0014602	An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PPP2R5D on chromosome 6p21.1.	ORPHA:457279|http://identifiers.org/omim/616355|DOID:0070065|UMLS:C4225354
MONDO:0014601	autosomal recessive spinocerebellar ataxia 20	biolink:Disease	mondo	Orphanet:397709|ICD10:Q87.8|OMIM:616354|DOID:0080066|UMLS:C4225355	ordo_malformation_syndrome	autosomal recessive spinocerebellar ataxia type 20|spinocerebellar ataxia, autosomal recessive type 20|intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome|intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome|spinocerebellar ataxia, autosomal recessive 20|SNX14 autosomal recessive cerebellar ataxia|autosomal recessive cerebellar ataxia caused by mutation in SNX14|spinocerebellar ataxia, autosomal recessive 20; SCAR20|SCAR20	http://purl.obolibrary.org/obo/MONDO_0014601	Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene.	http://identifiers.org/omim/616354|ORPHA:397709|DOID:0080066|UMLS:C4225355
MONDO:0002608	obsolete gangliosidosis GM2	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002608		
MONDO:0002609	obsolete gangliosidosis GM1	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002609		
MONDO:0002604	pericytic neoplasm	biolink:Disease	mondo	NCIT:C6528|UMLS:C1335392|DOID:3316		Pericytic neoplasm|Pericytic tumor|malignant perivascular cancer|perivascular neoplasm|perivascular tumor	http://purl.obolibrary.org/obo/MONDO_0002604	A benign or malignant mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels.	DOID:3316|NCIT:C6528|UMLS:C1335392
HGNC:8773	PDE11A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8773		
MONDO:0002605	hepatic angiomyolipoma	biolink:Disease	mondo	UMLS:C1333962|NCIT:C27485|DOID:3317		liver PEComa|liver angiomyolipoma	http://purl.obolibrary.org/obo/MONDO_0002605	An angiomyolipoma arising from the liver.	UMLS:C1333962|DOID:3317|NCIT:C27485
HGNC:8772	PDE10A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8772		
MONDO:0002606	epithelioid type angiomyolipoma	biolink:Disease	mondo	DOID:3318|UMLS:C1333426|NCIT:C38151			http://purl.obolibrary.org/obo/MONDO_0002606	An angiomyolipoma composed exclusively or predominantly by polygonal epithelioid cells with eosinophilic cytoplasm, often associated with cytologic atypia.	DOID:3318|NCIT:C38151|UMLS:C1333426
MONDO:0002607	obsolete lymphangioleiomyomatosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002607		
MONDO:0002622	multifocal osteogenic sarcoma	biolink:Disease	mondo	DOID:3360|NCIT:C6470|UMLS:C1334820		multicentric osteosarcoma|multifocal osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0002622	A primary bone osteosarcoma affecting multiple bone sites.	NCIT:C6470|UMLS:C1334820|DOID:3360
MONDO:0002623	pediatric osteosarcoma	biolink:Disease	mondo	UMLS:C1332986|DOID:3361|NCIT:C6585		childhood osteogenic sarcoma|pediatric osteosarcoma|childhood osteosarcoma (disease)|osteosarcoma|osteosarcoma (disease) of childhood|pediatric osteosarcoma (disease)|childhood osteosarcoma|pediatric osteosarcoma (disease)	http://purl.obolibrary.org/obo/MONDO_0002623	An osteosarcoma occurring in childhood.	NCIT:C6585|UMLS:C1332986|DOID:3361
MONDO:0002624	bone leiomyosarcoma	biolink:Disease	mondo	UMLS:C1332579|NCIT:C7154|DOID:3367		leiomyosarcoma of bone|bone leiomyosarcoma|leiomyosarcoma of bone tissue|bone tissue leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0002624	A rare aggressive malignant smooth muscle neoplasm, arising from the bone. It is characterized by a proliferation of neoplastic spindle cells.	UMLS:C1332579|DOID:3367|NCIT:C7154
MONDO:0002625	Ewing sarcoma of bone	biolink:Disease	mondo	SCTID:307608006|ICD9:170.9|UMLS:C0585474|DOID:3368|NCIT:C4835		skeletal Ewing's sarcoma|bone Ewing's sarcoma|bone localized Ewing's sarcoma|osseous Ewing's sarcoma|bone tissue Ewing sarcoma|bone Ewing's sarcoma|Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor|skeletal Ewing's tumor|Ewing's sarcoma, osseous|osseous Ewing's tumor|localized skeletal Ewing's sarcoma|Ewing sarcoma of bone|bone Ewing sarcoma|Ewing's sarcoma of bone|bone localized Ewing sarcoma	http://purl.obolibrary.org/obo/MONDO_0002625	A small round cell bone tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It often affects the diaphysis or metaphyseal-diaphyseal portion of long bones. Clinical findings include pain and a mass in the involved area. fever, anemia, leukocytosis, and an increased sedimentation rate are often seen. X-ray examination reveals osteolytic lesions. The prognosis depends on the stage, anatomic location, and size of the tumor.	DOID:3368|SNOMEDCT:307608006|NCIT:C4835|UMLS:C0585474
MONDO:0002620	localized osteosarcoma	biolink:Disease	mondo	UMLS:C0278511|DOID:3356|NCIT:C7780		localized osteogenic sarcoma|localized osteosarcoma|osteosarcoma, localized	http://purl.obolibrary.org/obo/MONDO_0002620	A non-disseminated osteosarcoma.	NCIT:C7780|UMLS:C0278511|DOID:3356
UBERON:0035450	cervical part of esophagus	biolink:AnatomicalEntity	mondo			pars colli oesophageae|cervical esophagus|pars cervicalis (oesophagus)|cervical part of oesophagus|pars cervicalis oesophageae	http://purl.obolibrary.org/obo/UBERON_0035450	Clinical esophageal segment composed of skeletal muscle. It corresponds to the superior part of the upper third topographic segment of the esophagus.	
MONDO:0002621	extraosseous osteosarcoma	biolink:Disease	mondo	NCIT:C8810|ICD9:170.9|SCTID:404077005|DOID:3357|UMLS:C0855052		extraskeletal osteosarcoma|osteosarcoma, extraskeletal, malignant|soft tissue osteosarcoma|extraskeletal osteogenic sarcoma|extraosseous osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0002621	An osteosarcoma arising from the soft tissue.	SNOMEDCT:404077005|UMLS:C0855052|NCIT:C8810|DOID:3357
HGNC:6125	IRS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6125		
HGNC:8788	PDE6D	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8788		
HGNC:8787	PDE6C	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8787		
HGNC:6126	IRS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6126		
HGNC:8789	PDE6G	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8789		
CHEBI:16842	formaldehyde	biolink:ChemicalSubstance	mondo			FORMALIN|Formalin|Methanal|Formaldehyd|Methylene oxide|FORMALDEHYDE|formaldehyde|Formaldehyde|Oxomethylene|Oxomethane	http://purl.obolibrary.org/obo/CHEBI_16842	An aldehyde resulting from the formal oxidation of methanol.	
MONDO:0002619	bone fibrosarcoma	biolink:Disease	mondo	DOID:3354|NCIT:C6604|UMLS:C2733623		bone tissue fibrosarcoma (disease)|fibrosarcoma of bone|bone fibrosarcoma|fibrosarcoma of the bone	http://purl.obolibrary.org/obo/MONDO_0002619	A usually aggressive malignant neoplasm arising from the bone. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.	DOID:3354|NCIT:C6604|UMLS:C2733623
HGNC:6120	IRF5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6120		
MONDO:0002615	xanthomatosis (disease)	biolink:Disease	mondo	DOID:3345|UMLS:C0043325|HP:0000991|SCTID:63103006		xanthelasmatosis|xanthomatosis	http://purl.obolibrary.org/obo/MONDO_0002615	A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the skin; tendons; joints of knees and elbows. Xanthomatosis is associated with disturbance of lipid metabolism and formation of foam cells.	DOID:3345|UMLS:C0043325|SNOMEDCT:63103006
HGNC:6121	IRF6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6121		
MONDO:0002616	mesenchymal cell neoplasm	biolink:Disease	mondo	NCIT:C7059|DOID:3350|UMLS:C1334699		benign miscellaneous mesenchymal tumor|mesenchymal tumor|mesenchymal neoplasm|mesenchymal cell neoplasm|mesenchymal cell tumor	http://purl.obolibrary.org/obo/MONDO_0002616	A benign, intermediate, or malignant neoplasm that arises from the mesenchyma-derived cells of the soft tissue or bone. Representative examples include lipoma, leiomyoma, leiomyosarcoma and osteosarcoma.	NCIT:C7059|DOID:3350|UMLS:C1334699
HGNC:6122	IRF7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6122		
HGNC:8783	PDE4D	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8783		
MONDO:0002617	bone angiosarcoma	biolink:Disease	mondo	UMLS:C1332574|DOID:3351|NCIT:C6479		bone hemangiosarcoma|angiosarcoma (disease) of bone tissue|bone angioendothelial sarcoma|osseous hemangiosarcoma|bone tissue angiosarcoma (disease)|osseous angioendothelial sarcoma|bone angiosarcoma|osseous angiosarcoma|bone Hemangioendothelial sarcoma	http://purl.obolibrary.org/obo/MONDO_0002617	A high-grade malignant vascular neoplasm that arises from the bone. It is characterized by the presence of neoplastic cells with endothelial differentiation.	DOID:3351|NCIT:C6479|UMLS:C1332574
HGNC:8786	PDE6B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8786		
MONDO:0002618	undifferentiated high grade pleomorphic sarcoma of bone	biolink:Disease	mondo	NCIT:C8563|DOID:3352|UMLS:C0740479		undifferentiated high-grade pleomorphic sarcoma|malignant fibrous histiocytoma of bone|undifferentiated high grade pleomorphic sarcoma|malignant bone fibrous histiocytoma|undifferentiated high grade pleomorphic sarcoma of bone|malignant fibrous histiocytoma of the bone	http://purl.obolibrary.org/obo/MONDO_0002618	A rare, high-grade pleomorphic malignant neoplasm arising from the bone. It usually presents with pain which may or may not be associated with swelling in the affected area. It is characterized by the presence of spindle-shaped cells, polygonal or epithelioid cells, multinucleated giant cells, and inflammatory cells. The neoplastic cells exhibit nuclear pleomorphism and high mitotic activity. It metastasizes frequently, most often in the lungs.	UMLS:C0740479|NCIT:C8563|DOID:3352
HGNC:8785	PDE6A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8785		
UBERON:0035465	endometrial cavity	biolink:AnatomicalEntity	mondo			endometrial lumen|cavity of body of uterus|intrauterine cavity|endometrial cavity	http://purl.obolibrary.org/obo/UBERON_0035465	A space inside the uterus lined by a layer of mucus membranes called the endometrium.	
HGNC:6137	ITGA2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6137		
HGNC:6138	ITGA2B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6138		
HGNC:6139	ITGA3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6139		
CHEBI:16874	psychosine	biolink:ChemicalSubstance	mondo			(2S,3R,4E)-2-amino-3-hydroxyoctadec-4-en-1-yl beta-D-galactopyranoside|beta-psychosine|Galactosylsphingosine|sphingosine galactoside|1-O-beta-D-galactopyranosylsphingosine|Psychosine|1-beta-D-galactosylsphingosine|(2S,3R,4E)-2-amino-1-(beta-D-galactopyranosyloxy)-3-hydroxyoctadec-4-ene|1-O-beta-D-galactosylsphingosine|O-galactosylsphingosine|O-Galactosylsphingosine|1-beta-D-galactosphingosine	http://purl.obolibrary.org/obo/CHEBI_16874	A glycosylsphingoid consisting of sphingosine having a beta-D-galactosyl residue attached at the 1-position.	
HGNC:8790	PDE6H	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8790		
CHEBI:28829	aminophenol	biolink:ChemicalSubstance	mondo			aminobenzenol|aminophenol|hydroxyaniline	http://purl.obolibrary.org/obo/CHEBI_28829	A substituted aniline carrying a hydroxy substituent.	
HGNC:8794	PDE8B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8794		
MONDO:0002600	obsolete mixed germ cell cancer	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002600		
MONDO:0002601	teratoma	biolink:Disease	mondo	ONCOTREE:TT|ICDO:9080/1|DOID:3307|SCTID:36591000119102|MESH:D013724|NCIT:C3403		teratoma	http://purl.obolibrary.org/obo/MONDO_0002601	A non-seminomatous germ cell tumor characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). It occurs in the testis, ovary, and extragonadal sites including central nervous system, mediastinum, lung, and stomach. According to the level of differentiation of the tissues which comprise the tumor, teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal-type tissues. Testicular teratomas in children follow a benign clinical course. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor.	MESH:D013724|DOID:3307|SNOMEDCT:36591000119102|NCIT:C3403
NCBITaxon:1538075	Malasseziomycetes	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1538075		
MONDO:0002602	central nervous system disease	biolink:Disease	mondo	SCTID:23853001|MESH:D002493|NCIT:C2934|DOID:331|UMLS:C0007682|ICD10:G96.9		central nervous system disease or disorder|disorder of central nervous system|central nervous system disease|disease of central nervous system|disorder of central nervous system|disease or disorder of central nervous system|central nervous system disorder|central nervous disease	http://purl.obolibrary.org/obo/MONDO_0002602	A disease involving the central nervous system.	SNOMEDCT:23853001|UMLS:C0007682|MESH:D002493|DOID:331|NCIT:C2934
MONDO:0002603	angiomyolipoma	biolink:Disease	mondo	DOID:3314|NCIT:C3734|GARD:0012024|MESH:D018207|ICDO:8860/0|UMLS:C0206633		angiomyolipoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0002603	A neoplasm with perivascular epithelioid cell differentiation often associated with tuberous sclerosis. It is characterized by a mixture of epithelioid cells, smooth muscle, vessels, and mature adipose tissue. The kidney is the most common site of involvement. Other sites of involvement include the liver, lung, lymph nodes, and retroperitoneum. The vast majority of cases follow a benign clinical course. However, cases of metastatic angiomyolipomas with sarcomatoid features have been described.	UMLS:C0206633|DOID:3314|MESH:D018207|NCIT:C3734
UBERON:0035471	posterior surface of kidney	biolink:AnatomicalEntity	mondo			facies posterior (Ren)|facies posterior renis	http://purl.obolibrary.org/obo/UBERON_0035471		
HGNC:6149	ITGAM	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6149		
HGNC:6142	ITGA6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6142		
HGNC:6143	ITGA7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6143		
HGNC:6144	ITGA8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6144		
MONDO:0002655	cutaneous Paget disease	biolink:Disease	mondo	DOID:3450		zone of skin Paget disease|cutaneous Paget's disease|extramammary Paget's disease|Paget's disease of skin|cutaneous Paget disease	http://purl.obolibrary.org/obo/MONDO_0002655	A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli.	DOID:3450
MONDO:0002656	skin carcinoma	biolink:Disease	mondo	NCIT:C4914|UMLS:C0699893|DOID:3451		non-melanoma skin cancer|carcinoma of zone of skin|non-melanoma cancer of skin|zone of skin carcinoma|carcinoma of the skin|non-melanoma cancer of the skin|carcinoma of skin|nonmelanoma skin cancer|skin carcinoma|skin cancer, non-melanoma	http://purl.obolibrary.org/obo/MONDO_0002656	A carcinoma that arises from epithelial cells of the zone of skin	NCIT:C4914|UMLS:C0699893|DOID:3451
MONDO:0002657	breast disease	biolink:Disease	mondo	MESH:D001941|ICD10:N60-N65|SCTID:79604008|ICD10:N64.9|COHD:77030|ICD9:611.8|NCIT:C26709|UMLS:C0006145|DOID:3463|ICD9:610-612.99|ICD9:611.9		breast diseases|breast disease or disorder|disorder of breast|breast disorder|disease of breast|disease or disorder of breast|disorder of breast|breast disease	http://purl.obolibrary.org/obo/MONDO_0002657	A disease involving the breast.	SNOMEDCT:79604008|NCIT:C26709|MESH:D001941|DOID:3463|UMLS:C0006145
MONDO:0002658	iris cancer	biolink:Disease	mondo	NCIT:C4554|SCTID:188264002|EFO:1000996|UMLS:C0346372|DOID:3478		malignant tumor of iris|tumor of the iris|cancer of iris|malignant tumor of the iris|iris cancer|malignant neoplasm of iris|malignant iris tumor|malignant iris neoplasm|malignant neoplasm of the iris	http://purl.obolibrary.org/obo/MONDO_0002658	A malignant neoplasm involving the iris.	NCIT:C4554|UMLS:C0346372|SNOMEDCT:188264002|DOID:3478
MONDO:0002651	anal Paget disease	biolink:Disease	mondo	DOID:3446|NCIT:C5598|UMLS:C1332274		anal Paget disease|anal Paget's disease|anus mammary Paget's disease|anus Paget disease|Paget disease of the anus|Paget's disease of anus|Paget's disease of the anus	http://purl.obolibrary.org/obo/MONDO_0002651	A slowly spreading, erythematous eczematoid plaque in the anal region. Histologically, the basal part or whole thickness of the squamous epithelium is infiltrated by large cells with abundant pale cytoplasm and large nuclei. Half of the cases are associated with an internal malignancy, most often a colorectal adenocarcinoma. The other half of the cases, have a high local recurrence rate and they may become invasive (WHO).	UMLS:C1332274|DOID:3446|NCIT:C5598
MONDO:0002652	anus adenocarcinoma	biolink:Disease	mondo	SCTID:423607006|DOID:3447|NCIT:C5600|UMLS:C1332257		anus adenocarcinoma|anal adenocarcinoma|adenocarcinoma of anus|adenocarcinoma of the anus	http://purl.obolibrary.org/obo/MONDO_0002652	An adenocarcinoma arising in the anal canal epithelium, including the mucosal surface, the anal glands, and the lining of fistulous tracts. The prognosis is related to the stage at diagnosis.	UMLS:C1332257|SNOMEDCT:423607006|DOID:3447|NCIT:C5600
MONDO:0002653	Paget disease of the penis	biolink:Disease	mondo	SCTID:398768004|DOID:3448|NCIT:C27817|UMLS:C0221286		penile adenocarcinoma|penis Paget's disease|Paget's disease of penis|Paget's disease of the penis|Paget disease of the penis|penis Paget disease|penis mammary Paget's disease	http://purl.obolibrary.org/obo/MONDO_0002653	A premalignant condition morphologically characterised by the presence of the characteristic Paget cells in the intraepithelial tissue of the penis. It presents as a smooth raised reddish area that may or may not be painful. -- 2003	SNOMEDCT:398768004|DOID:3448|UMLS:C0221286|NCIT:C27817
MONDO:0002654	uterine disease	biolink:Disease	mondo	ICD10:N85.9|UMLS:C0042131|SCTID:12337004|ICD9:621.8|NCIT:C26907|ICD9:621.9|DOID:345|MESH:D014591		uterus disease or disorder|disorder of uterus|uterine disease|disease or disorder of uterus|disease of uterus|disorder of uterus|uterine disorder|uterus disease	http://purl.obolibrary.org/obo/MONDO_0002654	A non-neoplastic or neoplastic disorder that affects the uterine corpus or the cervix. Representative examples of non-neoplastic disorders include endometritis and cervicitis. Representative examples of neoplastic disorders include endometrial carcinoma, carcinosarcoma, and cervical carcinoma.	NCIT:C26907|SNOMEDCT:12337004|UMLS:C0042131|MESH:D014591|DOID:345
MONDO:0014639	familial temporal lobe epilepsy 7	biolink:Disease	mondo	UMLS:C4225327|OMIM:616436|DOID:0060751		familial temporal lobe epilepsy type 7|epilepsy, familial temporal lobe, 7; ETL7|epilepsy, familial temporal lobe, 7|ETL7|epilepsy, familial temporal lobe, type 7	http://purl.obolibrary.org/obo/MONDO_0014639	A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has material basis in heterozygous mutation in the RELN gene on chromosome 7q22.	http://identifiers.org/omim/616436|DOID:0060751|UMLS:C4225327
MONDO:0002650	scrotal carcinoma	biolink:Disease	mondo	DOID:3445|UMLS:C1370468|NCIT:C6389		carcinoma of the scrotum|cancer of the scrotum|scrotum carcinoma|cancer of scrotum|carcinoma of scrotum|scrotal cancer	http://purl.obolibrary.org/obo/MONDO_0002650	A carcinoma that arises from epithelial cells of the scrotum.	DOID:3445|NCIT:C6389|UMLS:C1370468
MONDO:0014638	Fanconi anemia complementation group T	biolink:Disease	mondo	UMLS:C4084840|OMIM:616435|DOID:0111081		Fanconi Anemia, complementation group type T|FANCT|UBE2T Fanconi anemia|Fanconi anemia caused by mutation in UBE2T|Fanconi anemia complementation group type T|Fanconi anemia, complementation group T|Fanconi anemia, complementation group T; FANCT	http://purl.obolibrary.org/obo/MONDO_0014638	Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene.	UMLS:C4084840|http://identifiers.org/omim/616435|DOID:0111081
UBERON:0035401	posterior wall of nasopharynx	biolink:AnatomicalEntity	mondo			posterior nasopharynx	http://purl.obolibrary.org/obo/UBERON_0035401		
UBERON:0035403	hypophysial artery	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0035403	An artery that supplies the pituitary gland.	
MONDO:0014644	hereditary spastic paraplegia 74	biolink:Disease	mondo	DOID:0110819|Orphanet:468661|OMIM:616451|UMLS:C4225322	ordo_disease	IBA57 hereditary spastic paraplegia|spastic paraplegia 74, autosomal recessive|hereditary spastic paraplegia caused by mutation in IBA57|hereditary spastic paraplegia type 74|autosomal recessive spastic paraplegia 74|spastic paraplegia 74, autosomal recessive; SPG74|SPG74|autosomal recessive spastic paraplegia type 74	http://purl.obolibrary.org/obo/MONDO_0014644	Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported.	ORPHA:468661|UMLS:C4225322|DOID:0110819|http://identifiers.org/omim/616451
HGNC:6158	ITGB4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6158		
MONDO:0014643	congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome	biolink:Disease	mondo	Orphanet:464738|OMIM:616449|UMLS:C4225323	ordo_malformation_syndrome	BVSYS|BASEL-Vanagaite-SMIRIN-YOSEF syndrome; BVSYS|BASEL-Vanagaite-SMIRIN-YOSEF syndrome	http://purl.obolibrary.org/obo/MONDO_0014643		UMLS:C4225323|ORPHA:464738|http://identifiers.org/omim/616449
MONDO:0014642	candidiasis, familial, 9	biolink:Disease	mondo	UMLS:C4225324|OMIM:616445		candidiasis, familial, 9|candidiasis, familial, 9; CANDF9|candidiasis, familial, type 9|IL17RC chronic mucocutaneous candidiasis (disease)|chronic mucocutaneous candidiasis (disease) caused by mutation in IL17RC|CANDF9	http://purl.obolibrary.org/obo/MONDO_0014642	Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17RC gene.	UMLS:C4225324|http://identifiers.org/omim/616445
MONDO:0014641	FTDALS4	biolink:Disease	mondo	UMLS:C4225325|OMIM:616439|DOID:0110069		frontotemporal dementia and/or amyotrophic lateral sclerosis 4; FTDALS4|frontotemporal dementia and/or amyotrophic lateral sclerosis 4|frontotemporal dementia and/or amyotrophic lateral sclerosis type 4|FTDALS4	http://purl.obolibrary.org/obo/MONDO_0014641	An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14.	UMLS:C4225325|DOID:0110069|http://identifiers.org/omim/616439
MONDO:0014648	Al-Raqad syndrome	biolink:Disease	mondo	UMLS:C4085595|OMIM:616459		ARS|AL-RAQAD syndrome; ARS|Al-Raqad syndrome	http://purl.obolibrary.org/obo/MONDO_0014648		UMLS:C4085595|http://identifiers.org/omim/616459
MONDO:0014647	developmental and epileptic encephalopathy, 50	biolink:Disease	mondo	Orphanet:448010|OMIM:616457|ICD10:E77.8|UMLS:C4225320|DOID:0080419	ordo_disease	CAD-CDG|congenital disorder of glycosylation, type Iz, formerly|CDG1Z|congenital disorder of glycosylation type 1z|carbohydrate deficient glycoprotein syndrome type Iz|CDG-Iz|epileptic encephalopathy, early infantile, 50; EIEE50|congenital disorder of glycosylation, type Iz|epileptic encephalopathy, early infantile, 50|DEE50|congenital disorder of glycosylation, type Iz; CDG1Z|EIEE50|CDG syndrome type Iz	http://purl.obolibrary.org/obo/MONDO_0014647		ORPHA:448010|DOID:0080419|UMLS:C4225320|http://identifiers.org/omim/616457
MONDO:0014646	Zimmermann-Laband syndrome 2	biolink:Disease	mondo	UMLS:C4225321|OMIM:616455		Zimmermann-Laband syndrome 2|Zimmermann-Laband syndrome type 2|ZLS2|ATP6V1B2 Zimmermann-Laband syndrome|Zimmermann-Laband syndrome caused by mutation in ATP6V1B2|Zimmermann-Laband syndrome 2; ZLS2	http://purl.obolibrary.org/obo/MONDO_0014646	Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the ATP6V1B2 gene.	UMLS:C4225321|http://identifiers.org/omim/616455
MONDO:0014645	BENTA disease	biolink:Disease	mondo	GARD:0013339|Orphanet:464336|UMLS:CN231446|OMIM:616452|UMLS:CN242071	gard_rare|ordo_disease	B-cell expansion with NF-kB and T-cell anergy disease|BENTA|B-cell expansion with NFKB and T-cell anergy; BENTA|B-cell expansion with NFKB and T-cell anergy	http://purl.obolibrary.org/obo/MONDO_0014645	BENTA disease (B cell Expansion with N F-N:B and T cell Anergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several immune cells with very high numbers of polyclonal B cell lymphocytos (above 2200/N<l) and few memory B cells. Other findings are low levels of IgM in blood and poor antibody responses to specific vaccines. BENTA disease is caused by mutations in the CARD11 gene. There is no established treatment, but some patients have their spleen removed and there is one case of a hematopoietic stem cell transplantation with good results.	UMLS:CN231446|UMLS:CN242071|ORPHA:464336|http://identifiers.org/omim/616452
ENVO:00001999	marine water body	biolink:OntologyClass	mondo			marine waterbody|body of marine water	http://purl.obolibrary.org/obo/ENVO_00001999	A significant accumulation of water which is part of a marine biome.	
ENVO:00001998	soil	biolink:OntologyClass	mondo			regolith	http://purl.obolibrary.org/obo/ENVO_00001998	Soil is an environmental material which is primarily composed of minerals, varying proportions of sand, silt, and clay, organic material such as humus, gases, liquids, and a broad range of resident micro- and macroorganisms.	
MONDO:0014640	FTDALS3	biolink:Disease	mondo	UMLS:C4225326|OMIM:616437|DOID:0110068		frontotemporal dementia and/or amyotrophic lateral sclerosis 3|frontotemporal dementia and/or amyotrophic lateral sclerosis type 3|FTDALS3|frontotemporal dementia and/or amyotrophic lateral sclerosis 3; FTDALS3	http://purl.obolibrary.org/obo/MONDO_0014640	An amyotrophic lateral sclerosis that has material basis in mutation in the SQSTM1 gene on chromosome 5q35.	UMLS:C4225326|DOID:0110068|http://identifiers.org/omim/616437
MONDO:0002648	mammary Paget disease	biolink:Disease	mondo	NCIT:C47857|ICDO:8540/3|UMLS:CN200478|DOID:3443		Paget disease of the breast|Paget cell neoplasm|Paget's disease of breast|mammary Paget's disease|Paget's disease of the breast|mammary Paget disease|breast Paget disease|Paget's disease	http://purl.obolibrary.org/obo/MONDO_0002648	A malignant neoplasm in which there is infiltration of the skin overlying the breast by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It is almost always associated with an intraductal or invasive ductal carcinoma of the breast. The clinical features include focal skin reddening, and eczema. Retraction of the nipple may sometimes occur.	UMLS:CN200478|NCIT:C47857|DOID:3443
MONDO:0002649	scrotum Paget disease	biolink:Disease	mondo	DOID:3444|NCIT:C7728|UMLS:C0238330		scrotum Paget's disease|Paget's disease of scrotum|Paget disease of the scrotum|scrotum mammary Paget's disease|scrotum Paget disease|scrotal Paget's disease|Paget's disease of the scrotum	http://purl.obolibrary.org/obo/MONDO_0002649	A mammary Paget's disease that involves the scrotum.	NCIT:C7728|UMLS:C0238330|DOID:3444
HGNC:6155	ITGB2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6155		
HP:0008035	Retinitis pigmentosa inversa	biolink:PhenotypicFeature	mondo	UMLS:C4021559		Central retinitis pigmentosa	http://purl.obolibrary.org/obo/HP_0008035	Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery).	
ENVO:00001995	rock	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_00001995	A rock is a naturally occurring solid aggregate of one or more minerals or mineraloids.	
HGNC:6156	ITGB3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6156		
MONDO:0002666	pancreatic signet ring cell adenocarcinoma	biolink:Disease	mondo	NCIT:C5720|UMLS:C1335317|DOID:3497		signet Ring cell carcinoma of pancreas|pancreatic signet ring cell carcinoma|pancreas signet ring cell carcinoma|pancreatic signet Ring cell carcinoma|signet Ring cell carcinoma of the pancreas	http://purl.obolibrary.org/obo/MONDO_0002666	A rare pancreatic ductal adenocarcinoma with poor prognosis. It is characterized by the presence of malignant signet ring cells infiltrating the pancreatic parenchyma in an individual cell pattern.	DOID:3497|NCIT:C5720|UMLS:C1335317
MONDO:0000003	obsolete 17-hydroxysteroid dehydrogenase deficiency	biolink:Disease	mondo	DC:0000002			http://purl.obolibrary.org/obo/MONDO_0000003		
MONDO:0002667	gallbladder signet ring cell adenocarcinoma	biolink:Disease	mondo	DOID:3499|UMLS:C1333758|NCIT:C5745		gall bladder signet ring cell carcinoma|signet Ring cell carcinoma of gallbladder|gallbladder signet Ring cell carcinoma|signet Ring cell carcinoma of the gallbladder	http://purl.obolibrary.org/obo/MONDO_0002667	An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of signet ring malignant epithelial cells.	UMLS:C1333758|DOID:3499|NCIT:C5745
MONDO:0000002	obsolete 46,XX sex reversal	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000002		
MONDO:0000001	disease or disorder	biolink:Disease	mondo	UMLS:C0012634|NCIT:C2991|ICD9:799.9|Orphanet:377788|MESH:D004194|ICD10:N18|OGMS:0000031|EFO:0000408|SCTID:64572001|DOID:4		disease|other disease|condition|disease or disorder|diseases|disease or disorder, non-neoplastic|disorders|medical condition|diseases and disorders|disorder	http://purl.obolibrary.org/obo/MONDO_0000001	A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism.	SNOMEDCT:64572001|ORPHA:377788|DOID:4|NCIT:C2991|UMLS:C0012634|MESH:D004194
HP:0008053	Aplasia/Hypoplasia of the iris	biolink:PhenotypicFeature	mondo	UMLS:C4024748		Absent/underdeveloped iris|Absent/small iris	http://purl.obolibrary.org/obo/HP_0008053	Absence or underdevelopment of the iris.	
MONDO:0002668	obsolete gallbladder adenocarcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002668		
MONDO:0002669	ampullary signet ring cell adenocarcinoma	biolink:Disease	mondo	DOID:3501|UMLS:C1332249|NCIT:C6656		ampulla of Vater signet Ring cell carcinoma|ampullary signet ring cell carcinoma|ampullary signet Ring cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002669	An adenocarcinoma arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucin-containing signet-ring cells.	UMLS:C1332249|DOID:3501|NCIT:C6656
MONDO:0000007	obsolete atypical Mycobacteriosis, familial	biolink:Disease	mondo	DC:0000046			http://purl.obolibrary.org/obo/MONDO_0000007		
MONDO:0002662	obsolete plague	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002662		
MONDO:0002663	obsolete systemic mastocytosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002663		
MONDO:0000006	obsolete alopecia-mental retardation syndrome	biolink:Disease	mondo	DC:0000017			http://purl.obolibrary.org/obo/MONDO_0000006		
MONDO:0002664	extrahepatic bile duct signet ring cell carcinoma	biolink:Disease	mondo	NCIT:C5776|DOID:3494|UMLS:C0861859		signet Ring cell carcinoma of the bile duct|signet Ring cell carcinoma of bile duct|extrahepatic bile duct signet Ring cell carcinoma|bile duct signet ring cell carcinoma|bile duct signet Ring cell carcinoma|signet Ring cell bile duct carcinoma	http://purl.obolibrary.org/obo/MONDO_0002664	An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of signet ring malignant epithelial cells.	UMLS:C0861859|DOID:3494|NCIT:C5776
MONDO:0000005	alopecia, isolated	biolink:Disease	mondo	DC:0000016|OMIMPS:203655			http://purl.obolibrary.org/obo/MONDO_0000005		
MONDO:0000004	adrenocortical insufficiency	biolink:Disease	mondo	NCIT:C26691|DOID:10493|SCTID:386584007|UMLS:C0405580|DC:0000011|ICD9:255.41|MESH:D000309|GARD:0006722|ICD9:255.4		adrenal cortical insufficiency|hypocortisolemia|adrenocortical insufficiency|hypocortisolism|adrenal cortical hypofunction|adrenal gland insufficiency|adrenal insufficiency|corticoadrenal insufficiency	http://purl.obolibrary.org/obo/MONDO_0000004	An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency).	DOID:10493|SNOMEDCT:386584007|MESH:D000309|UMLS:C0405580|NCIT:C26691
MONDO:0002665	extrahepatic bile duct adenocarcinoma	biolink:Disease	mondo	UMLS:C0279659|DOID:3495|NCIT:C7975		extrahepatic bile duct adenocarcinoma|adenocarcinoma of extrahepatic bile duct|adenocarcinoma of the extrahepatic bile duct	http://purl.obolibrary.org/obo/MONDO_0002665	A carcinoma that arises from glandular epithelial cells of the extrahepatic bile duct	UMLS:C0279659|DOID:3495|NCIT:C7975
MONDO:0014629	autoimmune interstitial lung disease-arthritis syndrome	biolink:Disease	mondo	UMLS:C4225334|OMIM:616414|Orphanet:444092|ICD10:J84.8	ordo_disease	AILJK|autoimmune interstitial lung, joint, and kidney disease; AILJK|autoimmune interstitial lung, joint, and kidney disease|copa defect|copa syndrome	http://purl.obolibrary.org/obo/MONDO_0014629		http://identifiers.org/omim/616414|ORPHA:444092|UMLS:C4225334
MONDO:0014628	basal ganglia calcification, idiopathic, 6	biolink:Disease	mondo	OMIM:616413|UMLS:C4225335		IBGC6|bilateral striopallidodentate calcinosis caused by mutation in XPR1|basal ganglia calcification, idiopathic, type 6|basal ganglia calcification, idiopathic, 6; IBGC6|basal ganglia calcification, idiopathic, 6|XPR1 bilateral striopallidodentate calcinosis	http://purl.obolibrary.org/obo/MONDO_0014628	Any bilateral striopallidodentate calcinosis in which the cause of the disease is a mutation in the XPR1 gene.	http://identifiers.org/omim/616413|UMLS:C4225335
MONDO:0002660	blepharochalasis (disease)	biolink:Disease	mondo	SCTID:47704002|ICD9:374.34|DOID:348|COHD:375551|ICD10:H02.3|UMLS:C0005742|HP:0010749		blepharochalasis	http://purl.obolibrary.org/obo/MONDO_0002660	An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins.	SNOMEDCT:47704002|DOID:348|UMLS:C0005742
MONDO:0002661	uveal disease	biolink:Disease	mondo	MESH:D014603|SCTID:95678007|GARD:0008192|NCIT:C26908|DOID:3480|UMLS:C0042161		disorder of uvea|disorder of uveal tract|uveal tract disease|uveal diseases|disease of uvea|uveal disorder|disorder of uvea|disease or disorder of uvea|uvea disease|uveal disease|uvea disease or disorder	http://purl.obolibrary.org/obo/MONDO_0002661	A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma.	UMLS:C0042161|MESH:D014603|DOID:3480|SNOMEDCT:95678007|NCIT:C26908
MONDO:0014627	dystonia 27	biolink:Disease	mondo	Orphanet:464440|DOID:0090050|UMLS:C4225336|ICD10:G24.1|OMIM:616411	ordo_disease	dystonia type 27|DYT27|COL6A3 dystonic disorder|dystonia 27; DYT27|dystonia 27|primary dystonia, DYT27 type|dystonic disorder caused by mutation in COL6A3	http://purl.obolibrary.org/obo/MONDO_0014627	Any dystonic disorder in which the cause of the disease is a mutation in the COL6A3 gene.	http://identifiers.org/omim/616411|UMLS:C4225336|ORPHA:464440|DOID:0090050
MONDO:0014633	myoclonic-atonic epilepsy	biolink:Disease	mondo	OMIM:616421|UMLS:C4085238		mae|myoclonic-atonic epilepsy|myoclonic-atonic epilepsy; mae	http://purl.obolibrary.org/obo/MONDO_0014633		UMLS:C4085238|http://identifiers.org/omim/616421
HGNC:6169	ITIH4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6169		
MONDO:0014632	hypomyelinating leukodystrophy 10	biolink:Disease	mondo	DOID:0060788|OMIM:616420|UMLS:C4225332		hypomyelinating leukodystrophy type 10|HLD10|leukodystrophy, hypomyelinating, type 10|leukodystrophy, hypomyelinating, 10; HLD10|leukodystrophy caused by mutation in PYCR2|leukodystrophy, hypomyelinating, 10|PYCR2 leukodystrophy	http://purl.obolibrary.org/obo/MONDO_0014632	Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene.	UMLS:C4225332|http://identifiers.org/omim/616420|DOID:0060788
MONDO:0014631	hypomagnesemia, seizures, and intellectual disability	biolink:Disease	mondo	OMIMPS:616418|UMLS:C4225333		hypomagnesemia, seizures, and mental retardation|hypomagnesemia, seizures, and intellectual disability; HOMGSMR|HOMGSMR|hypomagnesemia, seizures, and mental retardation; HOMGSMR|hypomagnesemia, seizures, and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0014631		UMLS:C4225333
MONDO:0014630	NTHL1-related attenuated familial adenomatous polyposis	biolink:Disease	mondo	OMIM:616415|ICD10:D12.6|UMLS:C4225157|Orphanet:454840	ordo_clinical_subtype	familial adenomatous polyposis 3|FAP3|familial adenomatous polyposis 3; FAP3|NTHL1-related AFAP|familial adenomatous polyposis type 3|NTHL1-related attenuated FAP	http://purl.obolibrary.org/obo/MONDO_0014630		ORPHA:454840|UMLS:C4225157|http://identifiers.org/omim/616415
MONDO:0014637	DOCK2 deficiency	biolink:Disease	mondo	ICD10:D81.8|UMLS:C4225328|Orphanet:447737|OMIM:616433|GARD:0012653	ordo_disease|gard_rare	IMD40|immunodeficiency type 40|immunodeficiency 40; IMD40|immunodeficiency 40	http://purl.obolibrary.org/obo/MONDO_0014637		http://identifiers.org/omim/616433|UMLS:C4225328|ORPHA:447737
MONDO:0014636	combined oxidative phosphorylation defect type 25	biolink:Disease	mondo	EFO:0009035|UMLS:C4225329|ICD10:E88.8|Orphanet:447954|OMIM:616430|DOID:0111468	ordo_disease	combined oxidative phosphorylation deficiency type 25|COXPD25|combined oxidative phosphorylation deficiency 25|combined oxidative phosphorylation deficiency 25; COXPD25|MARS2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in MARS2	http://purl.obolibrary.org/obo/MONDO_0014636	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the MARS2 gene.	http://identifiers.org/omim/616430|UMLS:C4225329|DOID:0111468|ORPHA:447954
MONDO:0014635	microphthalmia, isolated, with coloboma 10	biolink:Disease	mondo	OMIM:616428|UMLS:C4225330		microphthalmia, isolated, with coloboma 10|microphthalmia, isolated, with coloboma type 10|microphthalmia, isolated, with coloboma 10; MCOPCB10|RBP4 microphthalmia, isolated, with coloboma|MCOPCB10|microphthalmia, isolated, with coloboma caused by mutation in RBP4	http://purl.obolibrary.org/obo/MONDO_0014635	Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the RBP4 gene.	http://identifiers.org/omim/616428|UMLS:C4225330
MONDO:0014634	46,XY sex reversal 10	biolink:Disease	mondo	OMIM:616425|UMLS:C4225331|DOID:0111775		SRXY10|46,XY Sex reversal type 10|chromosome 17Q24 deletion syndrome|46,XY SEX reversal 10; SRXY10|46,XY sex reversal 10	http://purl.obolibrary.org/obo/MONDO_0014634		UMLS:C4225331|DOID:0111775|http://identifiers.org/omim/616425
HGNC:6161	ITGB6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6161		
HP:0008047	Abnormality of the vasculature of the eye	biolink:PhenotypicFeature	mondo	UMLS:C4024752		Abnormality of eye blood vessels	http://purl.obolibrary.org/obo/HP_0008047		
MONDO:0002659	uveal cancer	biolink:Disease	mondo	NCIT:C6105|UMLS:C1334629|DOID:3479|EFO:1001230		malignant neoplasm of uvea|uvea cancer|malignant neoplasm of the uvea|malignant uvea tumor|malignant uveal tumor|uveal tumor|malignant uveal neoplasm|cancer of uvea|malignant tumor of uvea|malignant tumor of the uvea|malignant uvea neoplasm	http://purl.obolibrary.org/obo/MONDO_0002659	A primary or metastatic malignant neoplasm that affects the choroid, ciliary body, or iris.	UMLS:C1334629|DOID:3479|NCIT:C6105
MONDO:0002633	cranial nerve neoplasm	biolink:Disease	mondo	UMLS:C0010267|NCIT:C2963|SCTID:126966009|ICD9:239.7|DOID:338|MESH:D003390		cranial nerve neoplasm|tumor of cranial nerve|neoplasm of the cranial nerve|cranial nerve neoplasms|neoplasm of cranial nerve|cranial nerve tumor|cranial nerve neoplasm (disease)|tumor of the cranial nerve	http://purl.obolibrary.org/obo/MONDO_0002633	Abnormal growth of the cells that comprise the cranial nerves.	MESH:D003390|SNOMEDCT:126966009|NCIT:C2963|DOID:338|UMLS:C0010267
MONDO:0002634	liposarcoma of bone	biolink:Disease	mondo	DOID:3381|UMLS:C1332581|NCIT:C7598		bone liposarcoma|bone tissue liposarcoma|liposarcoma of the bone|liposarcoma of bone|liposarcoma of bone tissue	http://purl.obolibrary.org/obo/MONDO_0002634	A very rare malignant adipose tissue neoplasm that arises from the bone.	UMLS:C1332581|DOID:3381|NCIT:C7598
MONDO:0002635	periodontal disease	biolink:Disease	mondo	COHD:134398|MESH:D010510|SCTID:2556008|ICD10:K05.6|ICD9:523.8|DOID:3388|UMLS:C0031090|NCIT:C63743		periodontal disease|disease of supporting structures of teeth, NOS|periodontium disease or disorder|disease of supporting structures of teeth|disorder of periodontium|periodontal disorder|periodontium disorder|disease of periodontium|disorder of periodontium|disease or disorder of periodontium|periodontium disease	http://purl.obolibrary.org/obo/MONDO_0002635	An inflammatory process of the gingival tissues and/or periodontal membrane of the teeth, resulting in an abnormally deep gingival sulcus, possibly producing periodontal pockets and loss of alveolar bone support.	MESH:D010510|UMLS:C0031090|SNOMEDCT:2556008|NCIT:C63743|DOID:3388
MONDO:0002636	accessory nerve disease	biolink:Disease	mondo	ICD9:352.4|COHD:437547|NCIT:C26953|UMLS:C0152180|SCTID:84759007|DOID:339|MESH:D020436		accessory nerve disorder|disease of accessory XI nerve|disease or disorder of accessory XI nerve|disorder of accessory XI nerve|disorder of accessory [11th] nerve|accessory XI nerve disease|eleventh nerve disorder|accessory XI nerve disease or disorder|disorder of accessory nerve|disorder of 11th nerve|disorder of accessory XI nerve|disorder of the 11th nerve	http://purl.obolibrary.org/obo/MONDO_0002636	A disease involving the accessory XI nerve.	NCIT:C26953|MESH:D020436|UMLS:C0152180|SNOMEDCT:84759007|DOID:339
MONDO:0002630	small cell osteogenic sarcoma	biolink:Disease	mondo	NCIT:C4023|UMLS:C0279622|ONCOTREE:SCOS|DOID:3377|ICDO:9185/3		small cell osteosarcoma|round cell osteosarcoma|SCOS	http://purl.obolibrary.org/obo/MONDO_0002630	An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of small cells and osteoid production. The prognosis is usually unfavorable.	NCIT:C4023|UMLS:C0279622|DOID:3377
HP:0011675	Arrhythmia	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:698247007|SNOMEDCT_US:102594003|UMLS:C0264886|UMLS:C0003811|MSH:D001145|UMLS:C1832603|UMLS:C0855329|UMLS:C1842820|SNOMEDCT_US:44808001|MSH:C562490|UMLS:C0522055		Cardiac arrhythmia|Irregular heart beat|Arrhythmias|Cardiac arrhythmias|Cardiac rhythm disturbances|Heart rhythm disorders|Abnormal heart rate|Irregular heartbeat	http://purl.obolibrary.org/obo/HP_0011675	Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.	
MONDO:0002631	conventional osteosarcoma	biolink:Disease	mondo	ICDO:9195/3|NCIT:C35870|DOID:3378|DOID:7602|UMLS:C1266166|ICDO:9186/3		intracortical osteosarcoma (morphologic abnormality)|conventional osteosarcoma|intracortical osteogenic sarcoma|medullary osteosarcoma|conventional central osteosarcoma|intracortical osteosarcoma|central osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0002631	A high grade malignant bone-forming mesenchymal neoplasm producing osteoid. The tumor arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis.	DOID:7602|UMLS:C1266166|NCIT:C35870|DOID:3378
MONDO:0002632	metachronous osteosarcoma of the bone	biolink:Disease	mondo	UMLS:C1334704|NCIT:C38157|DOID:3379		metachronous osteosarcoma|metachronous osteosarcoma of the bone	http://purl.obolibrary.org/obo/MONDO_0002632	A bone osteosarcoma that has metastasized to skeletal or extraskeletal sites.	NCIT:C38157|UMLS:C1334704|DOID:3379
HGNC:6171	ITK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6171		
MONDO:0014619	trichothiodystrophy 3, photosensitive	biolink:Disease	mondo	UMLS:C4017171|OMIM:616395		TTD3|trichothiodystrophy, complementation group A|trichothiodystrophy 3, photosensitive; TTD3|trichothiodystrophy 3, photosensitive	http://purl.obolibrary.org/obo/MONDO_0014619		http://identifiers.org/omim/616395|UMLS:C4017171
MONDO:0014618	retinitis pigmentosa 71	biolink:Disease	mondo	UMLS:C4225342|ICD10:H35.5|DOID:0110363|OMIM:616394		IFT172 retinitis pigmentosa|RP71|retinitis pigmentosa caused by mutation in IFT172|retinitis pigmentosa 71|retinitis pigmentosa 71; RP71|retinitis pigmentosa type 71	http://purl.obolibrary.org/obo/MONDO_0014618	Any retinitis pigmentosa in which the cause of the disease is a mutation in the IFT172 gene.	DOID:0110363|http://identifiers.org/omim/616394|UMLS:C4225342
MONDO:0014617	intellectual disability, autosomal dominant 38	biolink:Disease	mondo	UMLS:C4225343|OMIM:616393|DOID:0070068		autosomal dominant mental retardation 38|EEF1A2 autosomal dominant non-syndromic intellectual disability|intellectual disability, autosomal dominant type 38|mental retardation, autosomal dominant type 38|autosomal dominant non-syndromic intellectual disability caused by mutation in EEF1A2|psychomotor retardation, epilepsy, and language disability syndrome|PRELDS|autosomal dominant intellectual disability 38|mental retardation, autosomal dominant 38|autosomal dominant non-syndromic intellectual disability 38|intellectual disability, autosomal dominant 38; MRD38|mental retardation, autosomal dominant 38; MRD38|MRD38|intellectual disability, autosomal dominant 38	http://purl.obolibrary.org/obo/MONDO_0014617	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EEF1A2 gene.	http://identifiers.org/omim/616393|DOID:0070068|UMLS:C4225343
MONDO:0014616	Skint1-like pseudogene	biolink:Disease	mondo	OMIM:616392		Skintp|Skint1-like pseudogene|SKINT1-like pseudogene; SKINTL|Skint1L|SKINTL	http://purl.obolibrary.org/obo/MONDO_0014616		http://identifiers.org/omim/616392
MONDO:0014622	isolated focal non-epidermolytic palmoplantar keratoderma	biolink:Disease	mondo	UMLS:C4225339|Orphanet:448264|OMIM:616400	ordo_disease	FNEPPK2|palmoplantar keratoderma, nonepidermolytic, focal 2|palmoplantar keratoderma, nonepidermolytic, focal type 2|palmoplantar keratoderma, nonepidermolytic, focal 2; FNEPPK2	http://purl.obolibrary.org/obo/MONDO_0014622		http://identifiers.org/omim/616400|ORPHA:448264|UMLS:C4225339
UBERON:0035416	diaphragma sellae	biolink:AnatomicalEntity	mondo			sellar diaphragm	http://purl.obolibrary.org/obo/UBERON_0035416	The diaphragma sellae or sellar diaphragm is the circular fold of dura mater that almost completely roofs the fossa hypophyseos in the sphenoid bone of the skull. It retains the pituitary gland in the fossa hypophyseos, with only the infundibulum of the pituitary gland passing through it.	
MONDO:0014621	Brugada syndrome 9	biolink:Disease	mondo	ICD10:I49.8|DOID:0110226|OMIM:616399|UMLS:C4225340		Brugada syndrome 9; BRGDA9|BRGDA9|Brugada syndrome caused by mutation in KCND3|Brugada syndrome type 9|KCND3 Brugada syndrome|Brugada syndrome 9	http://purl.obolibrary.org/obo/MONDO_0014621	Any Brugada syndrome in which the cause of the disease is a mutation in the KCND3 gene.	UMLS:C4225340|DOID:0110226|http://identifiers.org/omim/616399
MONDO:0014620	myoclonic dystonia 26	biolink:Disease	mondo	DOID:0090036|OMIM:616398|UMLS:C4225341		myoclonus-dystonia syndrome caused by mutation in KCTD17|DYT26|dystonia 26, myoclonic|dystonia 26, myoclonic; DYT26|myoclonic dystonia type 26|KCTD17 myoclonus-dystonia syndrome	http://purl.obolibrary.org/obo/MONDO_0014620	Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the KCTD17 gene.	UMLS:C4225341|DOID:0090036|http://identifiers.org/omim/616398
MONDO:0014626	spinocerebellar ataxia type 41	biolink:Disease	mondo	DOID:0111744|Orphanet:458798|EFO:0009058|ICD10:G11.2|UMLS:C4225158|OMIM:616410	ordo_disease	spinocerebellar ataxia 41|spinocerebellar ataxia type 41|spinocerebellar ataxia 41; SCA41|SCA41	http://purl.obolibrary.org/obo/MONDO_0014626	Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging.	http://identifiers.org/omim/616410|ORPHA:458798|UMLS:C4225158|DOID:0111744
MONDO:0014625	developmental and epileptic encephalopathy, 33	biolink:Disease	mondo	OMIM:616409|UMLS:C4225337|DOID:0080463		early infantile epileptic encephalopathy caused by mutation in EEF1A2|EIEE33|epileptic encephalopathy, early infantile, 33|epileptic encephalopathy, early infantile, 33; EIEE33|epileptic encephalopathy, early infantile, type 33|EEF1A2 early infantile epileptic encephalopathy|DEE33	http://purl.obolibrary.org/obo/MONDO_0014625	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the EEF1A2 gene.	http://identifiers.org/omim/616409|DOID:0080463|UMLS:C4225337
MONDO:0014624	Brown syndrome	biolink:Disease	mondo	DOID:10235|SCTID:35929003|COHD:76122|UMLS:C0155339|ICD10:H50.61|ICD9:378.61|OMIM:616407|GARD:0005963		tendon sheath adherence, Superior oblique|BRWNS|superior oblique tendon sheath syndrome|Brown syndrome; BRWNS|Brown's tendon sheath syndrome|Brown syndrome|Brown's sheath syndrome|Brown tendon sheath syndrome|Brown's (tendon) sheath syndrome	http://purl.obolibrary.org/obo/MONDO_0014624	Brown syndrome is a rare eye disorder characterized by defects in eye movements caused by abnormalities of the superior oblique tendon sheath of the superior oblique muscle.	http://identifiers.org/omim/616407|DOID:10235|SNOMEDCT:35929003|UMLS:C0155339
MONDO:0014623	microcephaly 14, primary, autosomal recessive	biolink:Disease	mondo	UMLS:C4225338|DOID:0070279|OMIM:616402		microcephaly 14, primary, autosomal recessive|MCPH14|SASS6 autosomal recessive primary microcephaly|microcephaly 14, primary, autosomal recessive; MCPH14|autosomal recessive primary microcephaly caused by mutation in SASS6	http://purl.obolibrary.org/obo/MONDO_0014623	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the SASS6 gene.	http://identifiers.org/omim/616402|DOID:0070279|UMLS:C4225338
HGNC:6172	STT3A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6172		
HGNC:6174	ITM2B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6174		
MONDO:0002626	spinal accessory nerve neoplasm	biolink:Disease	mondo	DOID:337|ICD9:239.7|SCTID:126977003|NCIT:C5829|UMLS:C1263902		tumor of eleventh cranial nerve|spinal accessory nerve neoplasm|tumor of the eleventh cranial nerve|eleventh cranial nerve tumors|neoplasm of accessory nerve|tumor of accessory XI nerve spinal component|spinal accessory nerve tumors|accessory nerve neoplasm|XIth cranial nerve tumors|neoplasm of spinal accessory nerve|spinal accessory nerve tumor|neoplasm of the spinal accessory nerve|neoplasm of eleventh cranial nerve|accessory XI nerve spinal component neoplasm|eleventh cranial nerve tumor|neoplasm of the eleventh cranial nerve|spinal accessory nerve neoplasms|neoplasm of accessory XI nerve spinal component|accessory XI nerve spinal component tumor|XIth cranial nerve neoplasms|eleventh cranial nerve neoplasms|tumor of spinal accessory nerve|accessory XI nerve spinal component neoplasm (disease)|tumor of the spinal accessory nerve|eleventh cranial nerve neoplasm	http://purl.obolibrary.org/obo/MONDO_0002626	A neoplasm involving a accessory XI nerve spinal component.	UMLS:C1263902|NCIT:C5829|DOID:337|SNOMEDCT:126977003
HGNC:6176	ITPA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6176		
MONDO:0002627	chondroblastic osteosarcoma	biolink:Disease	mondo	UMLS:C0279603|DOID:3372|ICDO:9181/3|NCIT:C4021|ONCOTREE:CHOS		chondroblastic osteogenic sarcoma|chondroblastic osteosarcoma (morphologic abnormality)|chondrosarcomatous osteogenic sarcoma|CHOS|chondroblastic osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0002627	An osteosarcoma characterised by the presence of atypical cartilage of variable cellularity. It may or may not be associated with the presence of myxoid areas or focal bone formation.	DOID:3372|NCIT:C4021|UMLS:C0279603
MONDO:0002628	peripheral osteosarcoma	biolink:Disease	mondo	NCIT:C7134|UMLS:C1332591|DOID:3374		peripheral osteosarcoma|surface osteosarcoma|bone surface (peripheral) osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0002628	A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the surface of the bone.	NCIT:C7134|DOID:3374|UMLS:C1332591
MONDO:0002629	bone osteosarcoma	biolink:Disease	mondo	GARD:0007284|DOID:3376|OMIM:259500|MedDRA:10031291|SCTID:307576001|Orphanet:668|MESH:D012516|ICD9:170.9|NCIT:C53707|ICD10:C41.9	ordo_disease	primary osteosarcoma of bone|osteosarcoma of bone|bone osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0002629	A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs.	MESH:D012516|ORPHA:668|DOID:3376|SNOMEDCT:307576001|MEDDRA:10031291|UMLS:C0029463|http://identifiers.org/omim/259500|NCIT:C53707
MONDO:0002644	idiopathic granulomatous myositis	biolink:Disease	mondo	NCIT:C27575|DOID:3428|Orphanet:206979|UMLS:C1334150		idiopathic granulomatous myositis|granulomatous myositis	http://purl.obolibrary.org/obo/MONDO_0002644		ORPHA:206979|UMLS:C1334150|DOID:3428|NCIT:C27575
MONDO:0002645	cerebritis	biolink:Disease	mondo	UMLS:C0742115|NCIT:C27199|DOID:3431		cerebral hemisphere inflammation|inflammation of cerebral hemisphere	http://purl.obolibrary.org/obo/MONDO_0002645	Inflammation of the cerebrum.	UMLS:C0742115|DOID:3431|NCIT:C27199
MONDO:0002646	viral laryngitis	biolink:Disease	mondo	DOID:3436|ICD9:464.00|SCTID:441551009|UMLS:C0853195|NCIT:C27305		Viruses caused laryngitis|Viruses laryngitis	http://purl.obolibrary.org/obo/MONDO_0002646	Acute inflammation of the larynx caused by viruses, including rhinovirus, influenza virus, parainfluenza virus, and adenovirus.	SNOMEDCT:441551009|UMLS:C0853195|DOID:3436|NCIT:C27305
MONDO:0002647	laryngitis	biolink:Disease	mondo	UMLS:C0023067|DOID:3437|ICD9:464.00|MESH:D007827|NCIT:C26811|SCTID:45913009		laryngeal Inflammation|laryngeal inflammation|larynx inflammation|inflammation of larynx	http://purl.obolibrary.org/obo/MONDO_0002647	An acute or chronic, bacterial or viral inflammatory process affecting the larynx. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness.	NCIT:C26811|SNOMEDCT:45913009|DOID:3437|UMLS:C0023067|MESH:D007827
MONDO:0002640	optic nerve neoplasm	biolink:Disease	mondo	MESH:D019574|DOID:3419|NCIT:C4801|UMLS:C0524802|SCTID:395505000|ICD9:239.7|EFO:1001073		tumor of cranial nerve II|optic nerve neoplasms|second cranial nerve neoplasms|second cranial nerve neoplasm|optic nerve neoplasm|tumor of the optic nerve|tumour of optic nerve|tumor of optic nerve|cranial nerve II neoplasm (disease)|tumor of the second cranial nerve|neoplasm of cranial nerve II|cranial nerve II tumor|cranial nerve II neoplasms|neoplasm of the optic nerve|neoplasms, optic nerve|neoplasm of optic nerve|neoplasms, second cranial nerve|optic nerve tumor|neoplasm of second cranial nerve|second cranial nerve tumor|cranial nerve II neoplasm|tumor of second cranial nerve|neoplasm of the second cranial nerve	http://purl.obolibrary.org/obo/MONDO_0002640	Benign and malignant neoplasms which arise from or metastasize to the optic or second cranial nerve which extends from the optic disc of the eye and joins the optic chiasm. Clinical features may include visual loss, proptosis, and local pain. The majority of optic nerve tumors or optic gliomas.	SNOMEDCT:395505000|NCIT:C4801|UMLS:C0524802|DOID:3419|MESH:D019574
MONDO:0002641	subclavian artery aneurysm	biolink:Disease	mondo	DOID:342|UMLS:C0155746|COHD:432335|SCTID:40136003|ICD9:442.82			http://purl.obolibrary.org/obo/MONDO_0002641	A subclavian aneurysm is weakness or bulging in the wall of the subclavian artery, which is located below the collarbone. If the aneurysm ruptures, it can cause life-threatening, uncontrolled bleeding. Blood clots caused by the aneurysm can potentially lead to stroke or loss of fingers, the hand or, in rare cases, the entire arm.	SNOMEDCT:40136003|DOID:342|UMLS:C0155746
HGNC:6180	ITPR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6180		
MONDO:0002642	trochlear nerve neoplasm	biolink:Disease	mondo	SCTID:126970001|ICD9:239.7|DOID:3421|UMLS:C1263896|NCIT:C5825		trochlear nerve neoplasms|tumor of trochlear nerve|tumor of fourth cranial nerve|tumor of the fourth cranial nerve|tumor of the trochlear nerve|trochlear nerve neoplasm (disease)|IVth cranial nerve tumors|IVth cranial nerve neoplasms|neoplasm of fourth cranial nerve|neoplasm of the trochlear nerve|fourth cranial nerve neoplasm|neoplasm of the fourth cranial nerve|fourth cranial nerve tumor|trochlear nerve tumors|neoplasm of trochlear nerve|trochlear nerve tumor|fourth cranial nerve neoplasms|fourth cranial nerve tumors	http://purl.obolibrary.org/obo/MONDO_0002642	A neoplasm involving a trochlear nerve.	NCIT:C5825|SNOMEDCT:126970001|DOID:3421|UMLS:C1263896
HGNC:6181	ITPR2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6181		
MONDO:0002643	vestibular disease	biolink:Disease	mondo	ICD10:H81|ICD10:H81.9|DOID:3426|MESH:D015837|ICD10:H81.90|UMLS:C0042594		vestibular labyrinth disease or disorder|disease of vestibular system|vertigo, vestibular disorder|disorder of vestibular labyrinth|disorder of vestibular labyrinth|disease or disorder of vestibular labyrinth|vestibular system disease|disorder of vestibular system|disease of vestibular labyrinth|vestibular labyrinth disease	http://purl.obolibrary.org/obo/MONDO_0002643	Pathological processes of the vestibular labyrinth which contains part of the balancing apparatus. Patients with vestibular diseases show instability and are at risk of frequent falls.	MESH:D015837|UMLS:C0042594|DOID:3426
HGNC:6182	ITPR3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6182		
MONDO:0014608	mandibulofacial dysostosis with alopecia	biolink:Disease	mondo	Orphanet:443995|DOID:0060365|ICD10:Q75.4|UMLS:C4225349|OMIM:616367	ordo_malformation_syndrome	mandibulofacial dysostosis with alopecia|MFDA|mandibulofacial dysostosis with alopecia; MFDA	http://purl.obolibrary.org/obo/MONDO_0014608	A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia.	UMLS:C4225349|DOID:0060365|http://identifiers.org/omim/616367|ORPHA:443995
MONDO:0014607	developmental and epileptic encephalopathy, 32	biolink:Disease	mondo	UMLS:C4225350|OMIM:616366|DOID:0080416	clingen	early infantile epileptic encephalopathy caused by mutation in KCNA2|epileptic encephalopathy, early infantile, 32|epileptic encephalopathy, early infantile, type 32|epileptic encephalopathy, early infantile, 32; EIEE32|EIEE32|KCNA2 early infantile epileptic encephalopathy|DEE32	http://purl.obolibrary.org/obo/MONDO_0014607	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNA2 gene.	UMLS:C4225350|http://identifiers.org/omim/616366|DOID:0080416
MONDO:0014606	intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	biolink:Disease	mondo	Orphanet:468678|DOID:0070067|EFO:0009079|OMIM:616364	ordo_disease	WHSUS|WHITE-Sutton syndrome; WHSUS|autosomal dominant mental retardation 37|intellectual disability, autosomal dominant 37; MRD37|intellectual disability, autosomal dominant 37|mental retardation, autosomal dominant type 37|White-Sutton syndrome|intellectual disability, autosomal dominant type 37|mental retardation, autosomal dominant 37; MRD37|mental retardation, autosomal dominant 37|autosomal dominant intellectual disability 37|MRD37	http://purl.obolibrary.org/obo/MONDO_0014606	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).	http://identifiers.org/omim/616364|DOID:0070067|ORPHA:468678
MONDO:0014605	microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	biolink:Disease	mondo	DOID:0070066|OMIM:616362|Orphanet:457284	ordo_malformation_syndrome	intellectual disability, autosomal dominant 36; MRD36|MRD36|intellectual disability, autosomal dominant 36|autosomal dominant mental retardation 36|mental retardation, autosomal dominant type 36|intellectual disability, autosomal dominant type 36|autosomal dominant intellectual disability 36|mental retardation, autosomal dominant 36; MRD36|mental retardation, autosomal dominant 36|autosomal dominant non-syndromic intellectual disability 36	http://purl.obolibrary.org/obo/MONDO_0014605		http://identifiers.org/omim/616362|ORPHA:457284|DOID:0070066
UBERON:0035431	mediastinal pleura	biolink:AnatomicalEntity	mondo			pars mediastinalis (pleurae)|mediastinal part of parietal pleura|pars mediastinalis pleurae parietalis	http://purl.obolibrary.org/obo/UBERON_0035431	The parietal pleura that lines the mediastinum.	
CHEBI:16827	corticosterone	biolink:ChemicalSubstance	mondo			11beta,21-Dihydroxy-4-pregnene-3,20-dione|11beta,21-dihydroxyprogesterone|11beta,21-dihydroxypregn-4-ene-3,20-dione|corticosterone|(11beta)-11,21-dihydroxypregn-4-ene-3,20-dione|CORTICOSTERONE|Corticosterone|Reichstein's substance H|Kendall's compound B|17-deoxycortisol	http://purl.obolibrary.org/obo/CHEBI_16827	A 21-hydroxy steroid that consists of pregn-4-ene substituted by hydroxy groups at positions 11 and 21 and oxo groups at positions 3 and 20. Corticosterone is a 21-carbon steroid hormone of the corticosteroid type produced in the cortex of the adrenal glands.	
MONDO:0014609	cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	biolink:Disease	mondo	OMIM:616368|Orphanet:444077|UMLS:C4085597|GARD:0012845|EFO:0009031|ICD10:Q87.8|SCTID:764455002	ordo_malformation_syndrome	CHOPS|CHOPS syndrome; CHOPS|CHOPS syndrome|cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia	http://purl.obolibrary.org/obo/MONDO_0014609		UMLS:C4085597|SNOMEDCT:764455002|ORPHA:444077|http://identifiers.org/omim/616368
UBERON:0035435	right suprarenal vein	biolink:AnatomicalEntity	mondo			vena suprarenalis (adrenalis) dextra	http://purl.obolibrary.org/obo/UBERON_0035435	A vein that drains blood from the right adrenal gland into the inferior vena cava.	
MONDO:0014611	multiple mitochondrial dysfunctions syndrome 4	biolink:Disease	mondo	DOID:0080136|UMLS:C4225348|Orphanet:457406|OMIM:616370	ordo_disease	multiple mitochondrial dysfunctions syndrome 4|multiple mitochondrial dysfunctions syndrome 4; MMDS4|multiple mitochondrial dysfunctions syndrome type 4|MMDS4|ISCA2 fatal multiple mitochondrial dysfunctions syndrome|fatal multiple mitochondrial dysfunctions syndrome caused by mutation in ISCA2	http://purl.obolibrary.org/obo/MONDO_0014611	Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the ISCA2 gene.	http://identifiers.org/omim/616370|ORPHA:457406|DOID:0080136|UMLS:C4225348
MONDO:0014610	obsolete ciliary dyskinesia, primary, 31	biolink:Disease	mondo			moved to 243605	http://purl.obolibrary.org/obo/MONDO_0014610		
MONDO:0014615	trichothiodystrophy 2, photosensitive	biolink:Disease	mondo	OMIM:616390|UMLS:C4225344		trichothiodystrophy 2, photosensitive; TTD2|TTD2|trichothiodystrophy 2, photosensitive	http://purl.obolibrary.org/obo/MONDO_0014615		http://identifiers.org/omim/616390|UMLS:C4225344
MONDO:0014614	congenital stationary night blindness 1G	biolink:Disease	mondo	OMIM:616389|UMLS:C4225345|DOID:0110714		night blindness, congenital stationary, type 1G; CSNB1G|night blindness, congenital stationary, type 1G|congenital stationary night blindness type 1G|CSNB1G	http://purl.obolibrary.org/obo/MONDO_0014614	A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the GNAT1 gene on chromosome 3p21.	DOID:0110714|http://identifiers.org/omim/616389|UMLS:C4225345
MONDO:0014613	pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	biolink:Disease	mondo	OMIM:616373|UMLS:C4225346		pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 3|RTEL1 pulmonary fibrosis and/or bone marrow failure, Telomere-related|PFBMFT3|pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 3; PFBMFT3|pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in RTEL1|pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	http://purl.obolibrary.org/obo/MONDO_0014613	Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the RTEL1 gene.	http://identifiers.org/omim/616373|UMLS:C4225346
MONDO:0014612	pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4	biolink:Disease	mondo	OMIM:616371|UMLS:C4225347		PARN pulmonary fibrosis and/or bone marrow failure, Telomere-related|pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in PARN|pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 4; PFBMFT4|pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4|PFBMFT4|pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 4	http://purl.obolibrary.org/obo/MONDO_0014612	Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the PARN gene.	http://identifiers.org/omim/616371|UMLS:C4225347
HGNC:6186	IVD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6186		
MONDO:0002637	histiocytosis	biolink:Disease	mondo	NCIT:C3106|DOID:3405|ONCOTREE:HDCN|UMLS:C0019618|MESH:D015614		histiocytic and dendritic cell neoplasms|hand Schuller Christian disease|histiocytic syndrome|histiocytic infiltrate|chronic histiocytosis X	http://purl.obolibrary.org/obo/MONDO_0002637	A morphologic finding indicating tissue infiltration by non-neoplastic or neoplastic histiocytes.	UMLS:C0019618|NCIT:C3106|MESH:D015614|DOID:3405
MONDO:0002638	glossopharyngeal nerve neoplasm	biolink:Disease	mondo	NCIT:C5828|UMLS:C1263900|DOID:3417|ICD9:239.7|SCTID:126975006		tumor of the glossopharyngeal nerve|Ninth cranial nerve tumors|glossopharyngeal nerve neoplasm (disease)|neoplasm of the Ninth cranial nerve|tumor of glossopharyngeal nerve|neoplasm of Ninth cranial nerve|Ninth cranial nerve tumor|Ninth cranial nerve neoplasms|neoplasm of the glossopharyngeal nerve|tumor of the Ninth cranial nerve|glossopharyngeal nerve neoplasms|IXth cranial nerve neoplasms|glossopharyngeal nerve neoplasm|tumor of Ninth cranial nerve|IXth cranial nerve tumors|neoplasm of glossopharyngeal nerve|glossopharyngeal nerve tumor|glossopharyngeal nerve tumors|Ninth cranial nerve neoplasm	http://purl.obolibrary.org/obo/MONDO_0002638	A neoplasm involving a glossopharyngeal nerve.	DOID:3417|SNOMEDCT:126975006|UMLS:C1263900|NCIT:C5828
HGNC:6188	JAG1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6188		
MONDO:0002639	glossopharyngeal nerve disease	biolink:Disease	mondo	NCIT:C27211|ICD9:352|ICD10:G52|DOID:3418|UMLS:C0751941|ICD9:352.2|SCTID:80962007		ninth nerve disorder|disorder of glossopharyngeal nerve|disease of glossopharyngeal nerve|glossopharyngeal nerve disorder|disorder of glossopharyngeal nerve|disease or disorder of glossopharyngeal nerve|glossopharyngeal nerve disease|IX nerve disorder|glossopharyngeal nerve disease or disorder	http://purl.obolibrary.org/obo/MONDO_0002639	A disease involving the glossopharyngeal nerve.	DOID:3418|UMLS:C0751941|NCIT:C27211|SNOMEDCT:80962007
GO:0000323	lytic vacuole	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0000323	A vacuole that is maintained at an acidic pH and which contains degradative enzymes, including a wide variety of acid hydrolases.	
GO:0097237	cellular response to toxic substance	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0097237	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a toxic stimulus.	
GO:1903489	positive regulation of lactation	biolink:OntologyClass	mondo			upregulation of lactation|up-regulation of lactation|up regulation of lactation|activation of lactation	http://purl.obolibrary.org/obo/GO_1903489	Any process that activates or increases the frequency, rate or extent of lactation.	
GO:1903488	negative regulation of lactation	biolink:OntologyClass	mondo			down-regulation of lactation|down regulation of lactation|inhibition of lactation|downregulation of lactation	http://purl.obolibrary.org/obo/GO_1903488	Any process that stops, prevents or reduces the frequency, rate or extent of lactation.	
GO:1903487	regulation of lactation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1903487	Any process that modulates the frequency, rate or extent of lactation.	
GO:0000313	organellar ribosome	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0000313	A ribosome contained within a subcellular membrane-bounded organelle.	
HGNC:8724	PCK1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8724		
HGNC:8725	PCK2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8725		
HGNC:8727	PCM1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8727		
CHEBI:38234	DNA polymerase inhibitor	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_38234	Any inhibitor of a DNA polymerase.	
HGNC:8729	PCNA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8729		
HGNC:8743	PCSK1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8743		
HP:0011603	Congenital malformation of the great arteries	biolink:PhenotypicFeature	mondo	UMLS:C0478012			http://purl.obolibrary.org/obo/HP_0011603	Defect or defects of the morphogenesis of the aorta and pulmonary arteries.	
HGNC:8740	CHMP1A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8740		
CHEBI:28868	fatty acid anion	biolink:ChemicalSubstance	mondo			Fatty acid anion|a fatty acid|Fettsaeureanion|anion de l'acide gras|fatty acid anions|acidos grasos anionicos|acido graso anionico|Alkanate|Fettsaeureanionen	http://purl.obolibrary.org/obo/CHEBI_28868	The conjugate base of a fatty acid, arising from deprotonation of the carboxylic acid group of the corresponding fatty acid.	
GO:0002920	regulation of humoral immune response	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002920	Any process that modulates the frequency, rate, or extent of a humoral immune response.	
GO:0002921	negative regulation of humoral immune response	biolink:OntologyClass	mondo			inhibition of humoral immune response|downregulation of humoral immune response|down-regulation of humoral immune response|down regulation of humoral immune response	http://purl.obolibrary.org/obo/GO_0002921	Any process that stops, prevents, or reduces the frequency, rate, or extent of a humoral immune response.	
HGNC:8754	PCYT1A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8754		
GO:0002922	positive regulation of humoral immune response	biolink:OntologyClass	mondo			up-regulation of humoral immune response|up regulation of humoral immune response|activation of humoral immune response|stimulation of humoral immune response|upregulation of humoral immune response	http://purl.obolibrary.org/obo/GO_0002922	Any process that activates or increases the frequency, rate, or extent of a humoral immune response.	
CHEBI:26214	porphyrins	biolink:ChemicalSubstance	mondo			porphyrins	http://purl.obolibrary.org/obo/CHEBI_26214	Natural pigments containing a fundamental skeleton of four pyrrole nuclei united through the alpha-positions by four methine groups to form a macrocyclic structure.	
HGNC:8768	AIFM1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8768		
HGNC:6106	FOXP3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6106		
HGNC:6107	PDX1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6107		
HGNC:6109	IPW	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6109		
HGNC:8761	PDCD10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8761		
ENVO:01001524	frozen land	biolink:OntologyClass	mondo			frozen ground	http://purl.obolibrary.org/obo/ENVO_01001524	Land which is below the freezing point of water.	
ENVO:01001526	frozen soil	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001526	Soil which is below the freezing point of water.	
GO:0000280	nuclear division	biolink:OntologyClass	mondo			karyokinesis	http://purl.obolibrary.org/obo/GO_0000280	The division of a cell nucleus into two nuclei, with DNA and other nuclear contents distributed between the daughter nuclei.	
GO:0051885	positive regulation of timing of anagen	biolink:OntologyClass	mondo			upregulation of anagen|stimulation of anagen|positive regulation of anagen|activation of anagen|up regulation of anagen|up-regulation of anagen	http://purl.obolibrary.org/obo/GO_0051885	Any process that activates or increases the frequency, rate or extent of timing of anagen, the growth phase of the hair cycle.	
GO:0051886	negative regulation of timing of anagen	biolink:OntologyClass	mondo			downregulation of anagen|inhibition of anagen|down regulation of anagen|negative regulation of anagen|down-regulation of anagen	http://purl.obolibrary.org/obo/GO_0051886	Any process that stops, prevents, or reduces the frequency, rate or extent of timing of anagen, the growth phase of the hair cycle.	
GO:0048232	male gamete generation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0048232	Generation of the male gamete; specialised haploid cells produced by meiosis and along with a female gamete takes part in sexual reproduction.	
GO:0051884	regulation of timing of anagen	biolink:OntologyClass	mondo			regulation of anagen	http://purl.obolibrary.org/obo/GO_0051884	Any process that modulates the frequency, rate or extent of timing of anagen, the growth phase of the hair cycle.	
MONDO:0012090	autosomal dominant nonsyndromic deafness 47	biolink:Disease	mondo	OMIM:608652|ICD10:H90.3|DOID:0110570|UMLS:C1837609|MESH:C563885		autosomal dominant nonsyndromic deafness type 47|autosomal dominant deafness 47|deafness, autosomal dominant 47; DFNA47|DFNA47|deafness, autosomal dominant 47	http://purl.obolibrary.org/obo/MONDO_0012090	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 9p22-p21.	http://identifiers.org/omim/608652|DOID:0110570|UMLS:C1837609|MESH:C563885
ENVO:01001510	material congelation process	biolink:OntologyClass	mondo			congelation|congelation process	http://purl.obolibrary.org/obo/ENVO_01001510	A material transformation process during which a material's viscosity increase either through a reduction in temperature, through chemical reactions, or other physical effects.	
MONDO:0012091	autosomal recessive nonsyndromic deafness 32	biolink:Disease	mondo	UMLS:C1837608|DOID:0110491|MESH:C563884|OMIM:608653|ICD10:H90.3		autosomal recessive deafness 32|autosomal recessive nonsyndromic deafness type 32|deafness, autosomal recessive 32|deafness, autosomal recessive 32; DFNB32|DFNB32	http://purl.obolibrary.org/obo/MONDO_0012091	An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in variation in the chromosome region 1p22.1-p13.3.	http://identifiers.org/omim/608653|DOID:0110491|UMLS:C1837608|MESH:C563884
MONDO:0012094	prostate cancer, hereditary, 4	biolink:Disease	mondo	MESH:C563882|UMLS:C1837593|OMIM:608658		HPC4|prostate cancer, hereditary, type 4|prostate cancer, hereditary, on chromosome 7|prostate cancer, hereditary, 4	http://purl.obolibrary.org/obo/MONDO_0012094		http://identifiers.org/omim/608658|UMLS:C1837593|MESH:C563882
MONDO:0012095	intellectual disability-brachydactyly-Pierre Robin syndrome	biolink:Disease	mondo	ICD10:Q87.0|MESH:C563880|UMLS:C1837564|OMIM:608670|Orphanet:364577	ordo_malformation_syndrome	ROBIN sequence with distinctive facial appearance and brachydactyly	http://purl.obolibrary.org/obo/MONDO_0012095	Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.	ORPHA:364577|http://identifiers.org/omim/608670|UMLS:C1837564|MESH:C563880
MONDO:0012092	hereditary sensory and autonomic neuropathy type 5	biolink:Disease	mondo	PMID:77656|DOID:0070145|GARD:0012328|ICD10:G60.8|Orphanet:64752|OMIM:608654|SCTID:128206006|GARD:12328|PMID:14976160	ordo_disease	HSAN V|neuropathy, hereditary sensory and autonomic, type V; HSAN5|neuropathy, hereditary sensory and autonomic, type V|NGF autosomal recessive hereditary sensory and autonomic neuropathy|HSAN 5|congenital insensitivity to pain and thermal analgesia|insensitivity to pain, congenital|hereditary sensory and autonomic neuropathy type V|HSAN5|autosomal recessive hereditary sensory and autonomic neuropathy caused by mutation in NGF|neuropathy, hereditary sensory and autonomic, type 5	http://purl.obolibrary.org/obo/MONDO_0012092	Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies.	UMLS:C0002768|http://identifiers.org/omim/608654|MESH:D000699|SNOMEDCT:128206006|UMLS:C0020075|DOID:0070145|ORPHA:64752
MONDO:0012093	prostate cancer, hereditary, 3	biolink:Disease	mondo	UMLS:C1837595|MESH:C563883|OMIM:608656		prostate cancer, hereditary, type 3|HPC3|prostate cancer, hereditary, 3	http://purl.obolibrary.org/obo/MONDO_0012093		http://identifiers.org/omim/608656|UMLS:C1837595|MESH:C563883
MONDO:0012098	spinocerebellar ataxia type 20	biolink:Disease	mondo	GARD:0009997|UMLS:C1837541|SCTID:718771009|ICD10:G11.2|OMIM:608687|DOID:0050971|MESH:C537199|Orphanet:101110	ordo_disease	spinocerebellar ataxia 20; SCA20|spinocerebellar ataxia with dysphonia|chromosome 11q12 duplication syndrome, 260-Kb|SCA20|spinocerebellar ataxia with spasmodic cough|spinocerebellar ataxia 20|spinocerebellar ataxia type 20	http://purl.obolibrary.org/obo/MONDO_0012098	Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar dysarthria as the initial typical manifestation.	MESH:C537199|http://identifiers.org/omim/608687|DOID:0050971|SNOMEDCT:718771009|UMLS:C1837541|ORPHA:101110
MONDO:0012099	AICA-ribosiduria	biolink:Disease	mondo	MESH:C563876|OMIM:608688|SCTID:725289009|UMLS:C4510943|ICD10:E79.8|Orphanet:250977|UMLS:C1837530	ordo_disease	AICAR transformylase/IMP cyclohydrolase deficiency|Aica-Ribosuria due to Atic deficiency|ATIC deficiency|5-amino-4-imidazole carboxamide ribosiduria|Atic deficiency	http://purl.obolibrary.org/obo/MONDO_0012099	AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.	ORPHA:250977|UMLS:C4510943|SNOMEDCT:725289009|http://identifiers.org/omim/608688|UMLS:C1837530|MESH:C563876
MONDO:0012096	Charcot-Marie-Tooth disease axonal type 2L	biolink:Disease	mondo	DOID:0110174|OMIM:608673|Orphanet:99945|UMLS:C4304673|SCTID:719513008|GARD:0012432|ICD10:G60.0|UMLS:C1837552	ordo_disease	CMT2L|autosomal dominant Charcot-Marie-Tooth disease type 2L|Charcot-Marie-Tooth disease, axonal, type 2L; CMT2L|Charcot-Marie-Tooth disease type 2L|autosomal dominant axonal Charcot-Marie-Tooth disease type 2L|Charcot-Marie-Tooth disease, axonal, type 2L|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2L|Charcot-Marie-Tooth neuropathy axonal type 2L|Charcot-Marie-Tooth neuropathy, axonal, type 2L|Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB8|HSPB8 Charcot-Marie-Tooth disease type 2	http://purl.obolibrary.org/obo/MONDO_0012096	Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.	http://identifiers.org/omim/608673|ORPHA:99945|UMLS:C4304673|DOID:0110174|UMLS:C1837552|SNOMEDCT:719513008
MONDO:0012097	spondylocostal dysostosis 2, autosomal recessive	biolink:Disease	mondo	OMIM:608681|UMLS:C1837549|GARD:0009703		SCDO2|spondylocostal dysostosis 2|spondylocostal dysostosis 2, autosomal recessive; SCDO2|spondylocostal dysostosis 2, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0012097		http://identifiers.org/omim/608681|UMLS:C1837549
ENVO:01001549	freezing of water into water ice	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001549	A freezing process during which liquid water is transformed into water ice.	
ENVO:01001548	freezing	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001548	A material congelation process during which a liquid turns into a solid when its temperature is lowered below its melting point.	
MONDO:0000099	obsolete trichoepithelioma, multiple familial	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000099		
GO:0048240	sperm capacitation	biolink:OntologyClass	mondo			sperm activation	http://purl.obolibrary.org/obo/GO_0048240	A process required for sperm to reach fertilization competence. Sperm undergo an incompletely understood series of morphological and molecular maturational processes, termed capacitation, involving, among other processes, protein tyrosine phosphorylation and increased intracellular calcium.	
MONDO:0012080	neuronopathy, distal hereditary motor, type 2B	biolink:Disease	mondo	UMLS:C2608087|DOID:0111207|OMIM:608634|MESH:C567084		HMN 2B|HSPB1 neuronopathy, distal hereditary motor|neuronopathy, distal hereditary motor, type IIB; HMN2B|neuropathy, distal hereditary motor, type 2B|neuronopathy, distal hereditary motor caused by mutation in HSPB1|HMN2B|neuronopathy, distal hereditary motor, type IIB	http://purl.obolibrary.org/obo/MONDO_0012080	Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB1 gene.	MESH:C567084|http://identifiers.org/omim/608634|DOID:0111207|UMLS:C2608087
NCBITaxon:241475	Dioctophymatoidea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_241475		
MONDO:0000094	obsolete spherocytosis (disease)	biolink:Disease	mondo	DC:0000412|HP:0004444		spherocytosis	http://purl.obolibrary.org/obo/MONDO_0000094		
MONDO:0000093	Schistosoma mansoni infection, susceptibility	biolink:Disease	mondo	DC:0000398	predisposition		http://purl.obolibrary.org/obo/MONDO_0000093		
MONDO:0000092	obsolete pyloric stenosis, infantile	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000092		
MONDO:0000091	obsolete progressive familial heart block	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000091		
GO:0000262	mitochondrial chromosome	biolink:OntologyClass	mondo			mitochondrial DNA|mitochondrial genome|mtDNA	http://purl.obolibrary.org/obo/GO_0000262	A chromosome found in the mitochondrion of a eukaryotic cell.	
MONDO:0000098	obsolete thyrotoxic periodic paralysis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000098		
MONDO:0000097	obsolete thyroid dyshormonogenesis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000097		
MONDO:0000096	obsolete pulmonary surfactant metabolism dysfunction	biolink:Disease	mondo	DC:0000426		SMDP	http://purl.obolibrary.org/obo/MONDO_0000096		
MONDO:0000095	obsolete split-hand/foot malformation	biolink:Disease	mondo	DC:0000416			http://purl.obolibrary.org/obo/MONDO_0000095		
GO:0036211	protein modification process	biolink:OntologyClass	mondo			protein modification	http://purl.obolibrary.org/obo/GO_0036211	The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification).	
MONDO:0012089	ichthyosis prematurity syndrome	biolink:Disease	mondo	Orphanet:88621|MESH:C536271|UMLS:C1504431|SCTID:12381000132107|OMIM:608649|NCIT:C62590|UMLS:C1837610|GARD:0009886	ordo_disease|gard_rare	IPS|ichthyosis prematurity syndrome; IPS|idiopathic pneumonia syndrome|ichthyosis-prematurity syndrome|ichthyosis prematurity syndrome|ichthyosis congenita IV|congenital ichthyosis type 4|ichthyosis congenita 4	http://purl.obolibrary.org/obo/MONDO_0012089	Ichthyosis prematurity syndrome is a rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy.	UMLS:C1504431|ORPHA:88621|http://identifiers.org/omim/608649|MESH:C536271|NCIT:C62590|UMLS:C1837610|SNOMEDCT:12381000132107
MONDO:0000090	progressive external ophthalmoplegia with mitochondrial DNA deletions	biolink:Disease	mondo	OMIMPS:157640|DC:0000373|UMLS:CN239267		progressive external ophthalmoplegia with mtDNA deletions	http://purl.obolibrary.org/obo/MONDO_0000090		UMLS:CN239267
CHEBI:38187	pyridinecarbaldehyde	biolink:ChemicalSubstance	mondo			pyridinecarbaldehydes	http://purl.obolibrary.org/obo/CHEBI_38187		
MONDO:0012083	autosomal dominant nonsyndromic deafness 28	biolink:Disease	mondo	ICD10:H90.3|DOID:0110557|MESH:C563890|OMIM:608641|UMLS:C1837640		deafness, autosomal dominant 28; DFNA28|autosomal dominant nonsyndromic deafness type 28|deafness, autosomal dominant 28|autosomal dominant deafness 28|autosomal dominant nonsyndromic deafness caused by mutation in GRHL2|deafness, autosomal dominant type 28|GRHL2 autosomal dominant nonsyndromic deafness|DFNA28	http://purl.obolibrary.org/obo/MONDO_0012083	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GRHL2 gene.	http://identifiers.org/omim/608641|DOID:0110557|UMLS:C1837640|MESH:C563890
MONDO:0012084	aromatic L-amino acid decarboxylase deficiency	biolink:Disease	mondo	ICD10:G24.8|SCTID:237922009|ICD9:270.8|Orphanet:35708|DOID:0090123|NCIT:C142085|OMIM:608643|MESH:C537437|GARD:770|GARD:0000770	gard_rare|ordo_disease	DDC deficiency|Dopa decarboxylase deficiency|AADC deficiency|aromatic L-amino acid decarboxylase deficiency|aromatic L-amino-acid decarboxylase deficiency|aromatic amino acid decarboxylase deficiency|Aadc deficiency	http://purl.obolibrary.org/obo/MONDO_0012084	Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.	http://identifiers.org/omim/608643|MESH:C537437|SNOMEDCT:237922009|DOID:0090123|NCIT:C142085|UMLS:C1291564|ORPHA:35708
MONDO:0012081	15q11q13 microduplication syndrome	biolink:Disease	mondo	ICD10:Q92.3|OMIM:608636|UMLS:C2675336|NCIT:C126692|UMLS:C4304726|Orphanet:238446|SCTID:719427001	predisposition|ordo_malformation_syndrome	chromosome 15Q11.2 Duplication syndrome|trisomy 15q11q13|chromosome 15q11-q13 DUPLICATION syndrome|autism, susceptibility to, 4|15q11-q13 duplication syndrome|15q11q13 duplication syndrome|dup(15)(q11q13)|Duplication 15Q11-q13 syndrome|15q11-q13 microduplication syndrome|trisomy 15q11-q13	http://purl.obolibrary.org/obo/MONDO_0012081	The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.	SNOMEDCT:719427001|http://identifiers.org/omim/608636|UMLS:C2675336|ORPHA:238446|UMLS:C4304726|NCIT:C126692
MONDO:0012082	ASPG1	biolink:Disease	mondo	UMLS:C1837646|OMIM:608638	predisposition	ASPG1|ASPERGER syndrome, susceptibility to, 1; ASPG1|ASPERGER syndrome, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0012082		http://identifiers.org/omim/608638|UMLS:C1837646
MONDO:0012087	primary ciliary dyskinesia 4	biolink:Disease	mondo	OMIM:608646|DOID:0110614|MESH:C535279|UMLS:C1837616|ICD10:Q34.8		ciliary dyskinesia, primary, 4; CILD4|ciliary dyskinesia, primary, 4, with or without situs inversus|primary ciliary dyskinesia type 4|ciliary dyskinesia, primary, 4|primary ciliary dyskinesia 4 with or without situs inversus|CILD4	http://purl.obolibrary.org/obo/MONDO_0012087	A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has material basis in variation in the chromosome region 15q13.1-q15.1.	http://identifiers.org/omim/608646|MESH:C535279|DOID:0110614|UMLS:C1837616
MONDO:0012088	primary ciliary dyskinesia 5	biolink:Disease	mondo	OMIM:608647|ICD10:Q34.8|MESH:C563886|DOID:0110617|UMLS:C1837615		primary ciliary dyskinesia type 5|ciliary dyskinesia, primary, 5; CILD5|HYDIN primary ciliary dyskinesia|primary ciliary dyskinesia 5 without situs inversus|ciliary dyskinesia, primary, 5, without situs inversus|primary ciliary dyskinesia caused by mutation in HYDIN|ciliary dyskinesia, primary, type 5|CILD5|ciliary dyskinesia, primary, 5	http://purl.obolibrary.org/obo/MONDO_0012088	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the HYDIN gene.	http://identifiers.org/omim/608647|UMLS:C1837615|DOID:0110617|MESH:C563886
MONDO:0012085	primary ciliary dyskinesia 3	biolink:Disease	mondo	UMLS:C1837618|ICD10:Q34.8|MESH:C535278|DOID:0110599|OMIM:608644		CILD3|ciliary dyskinesia, primary, type 3|primary ciliary dyskinesia 3 with or without situs inversus|primary ciliary dyskinesia type 3|primary ciliary dyskinesia caused by mutation in DNAH5|ciliary dyskinesia, primary, 3|DNAH5 primary ciliary dyskinesia|ciliary dyskinesia, primary, 3; CILD3|ciliary dyskinesia, primary, 3, with or without situs inversus	http://purl.obolibrary.org/obo/MONDO_0012085	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH5 gene.	http://identifiers.org/omim/608644|MESH:C535278|DOID:0110599|UMLS:C1837618
MONDO:0012086	autosomal dominant nonsyndromic deafness 31	biolink:Disease	mondo	OMIM:608645|MESH:C563888|DOID:0110561|UMLS:C1837617|ICD10:H90.3		deafness, autosomal dominant 31|autosomal dominant nonsyndromic deafness type 31|deafness, autosomal dominant 31; DFNA31|DFNA31|autosomal dominant deafness 31	http://purl.obolibrary.org/obo/MONDO_0012086	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p21.3.	http://identifiers.org/omim/608645|DOID:0110561|UMLS:C1837617|MESH:C563888
GO:0000278	mitotic cell cycle	biolink:OntologyClass	mondo			mitosis	http://purl.obolibrary.org/obo/GO_0000278	Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent.	
GO:0048259	regulation of receptor-mediated endocytosis	biolink:OntologyClass	mondo			regulation of receptor mediated endocytosis	http://purl.obolibrary.org/obo/GO_0048259	Any process that modulates the frequency, rate or extent of receptor mediated endocytosis, the uptake of external materials by cells, utilizing receptors to ensure specificity of transport.	
GO:0000272	polysaccharide catabolic process	biolink:OntologyClass	mondo			multicellular organismal polysaccharide catabolic process|polysaccharide degradation|polysaccharide breakdown|polysaccharide catabolism	http://purl.obolibrary.org/obo/GO_0000272	The chemical reactions and pathways resulting in the breakdown of a polysaccharide, a polymer of many (typically more than 10) monosaccharide residues linked glycosidically.	
MONDO:0012078	Joubert syndrome 3	biolink:Disease	mondo	MESH:C536295|OMIM:608629|UMLS:C1837713|NCIT:C148259|DOID:0110998		AHI1 Joubert syndrome|JBTS3|Joubert syndrome type 3|Joubert syndrome 3|JBTS3|Joubert syndrome 3; JBTS3|Joubert syndrome caused by mutation in AHI1	http://purl.obolibrary.org/obo/MONDO_0012078	Any Joubert syndrome in which the cause of the disease is a mutation in the AHI1 gene.	NCIT:C148259|http://identifiers.org/omim/608629|MESH:C536295|UMLS:C1837713|DOID:0110998
MONDO:0012079	ASPG2	biolink:Disease	mondo	OMIM:608631|UMLS:C1837697	predisposition	ASPERGER syndrome, susceptibility to, 2; ASPG2|ASPERGER syndrome, susceptibility to, 2|ASPG2	http://purl.obolibrary.org/obo/MONDO_0012079		http://identifiers.org/omim/608631|UMLS:C1837697
MONDO:0012072	familial partial lipodystrophy, Kobberling type	biolink:Disease	mondo	DOID:0070207|Orphanet:79084|OMIM:608600|GARD:0012598|SCTID:725035001|ICD10:E88.1	ordo_disease	lipodystrophy, familial partial, Kobberling type|FPLD1|familial partial lipodystrophy type 1|lipodystrophy, familial partial, type 1; FPLD1|familial partial lipodystrophy type Köbberling|familial partial lipodystrophy, Köbberling type|lipodystrophy, familial partial, type 1	http://purl.obolibrary.org/obo/MONDO_0012072	Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy (FPLD) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.	DOID:0070207|SNOMEDCT:725035001|http://identifiers.org/omim/608600|ORPHA:79084
MONDO:0012073	ribose-5-P isomerase deficiency	biolink:Disease	mondo	UMLS:C1291609|MESH:C563212|SCTID:124667004|OMIM:608611|Orphanet:440706|ICD9:277.6	ordo_disease	ribose 5-phosphate isomerase deficiency	http://purl.obolibrary.org/obo/MONDO_0012073	Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.	http://identifiers.org/omim/608611|ORPHA:440706|MESH:C563212|SNOMEDCT:124667004|UMLS:C1291609
MONDO:0012070	obsolete autosomal dominant Charcot-Marie-Tooth disease type 2G	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0012070		
CHEBI:38196	hydroxymethylpyridine	biolink:ChemicalSubstance	mondo			hydroxymethylpyridines	http://purl.obolibrary.org/obo/CHEBI_38196	Any member of the class of  pyridines carrying a hydroxymethyl substituent at unspecified position.	
MONDO:0012071	congenital generalized lipodystrophy type 1	biolink:Disease	mondo	ICD10:E88.1|OMIM:608594|DOID:0111135|GARD:0000084	gard_rare	lipodystrophy, Berardinelli-Seip congenital, type 1|lipodystrophy, congenital generalized, type 1; CGL1|Berardinelli-Seip congenital lipodystrophy, type 1|AGPAT2 congenital generalized lipodystrophy (disease)|AGPAT2-related Brunzell syndrome|lipodystrophy, congenital generalized, type 1|BSCL1|CGL1|Berardinelli-Seip congenital lipodystrophy type 1|Brunzell syndrome AGPAT2-related|congenital generalized lipodystrophy (disease) caused by mutation in AGPAT2|Brunzell syndrome, Agpat2-related	http://purl.obolibrary.org/obo/MONDO_0012071	Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene.	http://identifiers.org/omim/608594|DOID:0111135
MONDO:0012076	midface hypoplasia, obesity, developmental delay, and neonatal hypotonia	biolink:Disease	mondo	UMLS:C1837730|MESH:C563896|OMIM:608624		midface hypoplasia, obesity, developmental delay, and neonatal hypotonia	http://purl.obolibrary.org/obo/MONDO_0012076		http://identifiers.org/omim/608624|UMLS:C1837730|MESH:C563896
MONDO:0012077	amyotrophic lateral sclerosis type 8	biolink:Disease	mondo	OMIM:608627|MESH:C563895|GARD:0010499|DOID:0050752	gard_rare	VAPB amyotrophic lateral sclerosis|amyotrophic lateral sclerosis 8|amyotrophic lateral sclerosis caused by mutation in VAPB|ALS8|amyotrophic lateral sclerosis 8; ALS8|amyotrophic lateral sclerosis type 8	http://purl.obolibrary.org/obo/MONDO_0012077	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VAPB gene.	MESH:C563895|http://identifiers.org/omim/608627|DOID:0050752
CHEBI:51151	dipolar compound	biolink:ChemicalSubstance	mondo			dipolar compounds	http://purl.obolibrary.org/obo/CHEBI_51151	An  organic molecule that is electrically neutral carrying a positive and a negative charge in one of its major canonical descriptions. In most dipolar compounds the charges are delocalized; however the term is also applied to species where this is not the case.	
MONDO:0012074	mandibuloacral dysplasia with type B lipodystrophy	biolink:Disease	mondo	UMLS:C1837756|OMIM:608612|Orphanet:90154|GARD:0009989|MESH:C535706|ICD10:Q87.5	ordo_clinical_subtype|gard_rare	MADB|MANDIBULOACRAL dysplasia with type B lipodystrophy; MADB|mandibuloacral dysplasia with type B lipodystrophy|lipodystrophy, type B, associated with Mandibuloacral dysplasia	http://purl.obolibrary.org/obo/MONDO_0012074		ORPHA:90154|http://identifiers.org/omim/608612|MESH:C535706|UMLS:C1837756
MONDO:0012075	oligodontia-cancer predisposition syndrome	biolink:Disease	mondo	UMLS:C1837750|MESH:C563898|OMIM:608615|Orphanet:300576	ordo_disease	autosomal dominant ectodermal dysplasia-cancer predisposition syndrome|tooth agenesis-colorectal cancer syndrome|oligodontia-colorectal cancer syndrome|oligodontia-colorectal cancer syndrome; ODCRCS|ODCRCS	http://purl.obolibrary.org/obo/MONDO_0012075		http://identifiers.org/omim/608615|UMLS:C1837750|ORPHA:300576|MESH:C563898
GO:0048261	negative regulation of receptor-mediated endocytosis	biolink:OntologyClass	mondo			down regulation of receptor mediated endocytosis|inhibition of receptor mediated endocytosis|downregulation of receptor mediated endocytosis|down-regulation of receptor mediated endocytosis|negative regulation of receptor mediated endocytosis	http://purl.obolibrary.org/obo/GO_0048261	Any process that stops, prevents, or reduces the frequency, rate or extent of receptor mediated endocytosis, the uptake of external materials by cells, utilizing receptors to ensure specificity of transport.	
GO:0048260	positive regulation of receptor-mediated endocytosis	biolink:OntologyClass	mondo			up-regulation of receptor mediated endocytosis|up regulation of receptor mediated endocytosis|activation of receptor mediated endocytosis|positive regulation of receptor mediated endocytosis|stimulation of receptor mediated endocytosis|upregulation of receptor mediated endocytosis	http://purl.obolibrary.org/obo/GO_0048260	Any process that activates or increases the frequency, rate or extent of receptor mediated endocytosis, the uptake of external materials by cells, utilizing receptors to ensure specificity of transport.	
GO:1903429	regulation of cell maturation	biolink:OntologyClass	mondo			regulation of functional differentiation	http://purl.obolibrary.org/obo/GO_1903429	Any process that modulates the frequency, rate or extent of cell maturation.	
CHEBI:26188	polyketide	biolink:ChemicalSubstance	mondo			polyketides|polyketide	http://purl.obolibrary.org/obo/CHEBI_26188	Natural and synthetic compounds containing alternating carbonyl and methylene groups ('beta-polyketones'), biogenetically derived from repeated condensation of acetyl coenzyme A (via malonyl coenzyme A), and usually the compounds derived from them by further condensations, etc. Considered by many to be synonymous with the less frequently used terms acetogenins and ketides.	
HGNC:25481	TRMU	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25481		
GO:1903430	negative regulation of cell maturation	biolink:OntologyClass	mondo			down regulation of cell maturation|down regulation of functional differentiation|downregulation of cell maturation|down-regulation of functional differentiation|negative regulation of functional differentiation|inhibition of cell maturation|inhibition of functional differentiation|down-regulation of cell maturation|downregulation of functional differentiation	http://purl.obolibrary.org/obo/GO_1903430	Any process that stops, prevents or reduces the frequency, rate or extent of cell maturation.	
CHEBI:26191	polyol	biolink:ChemicalSubstance	mondo			polyols	http://purl.obolibrary.org/obo/CHEBI_26191	A compound that contains two or more hydroxy groups.	
CHEBI:51143	nitrogen molecular entity	biolink:ChemicalSubstance	mondo			nitrogen molecular entities|nitrogen compounds|Nitrogenous compounds	http://purl.obolibrary.org/obo/CHEBI_51143		
CHEBI:38164	organic heteropentacyclic compound	biolink:ChemicalSubstance	mondo			organic heteropentacyclic compounds	http://purl.obolibrary.org/obo/CHEBI_38164		
CHEBI:38166	organic heteropolycyclic compound	biolink:ChemicalSubstance	mondo			organic heteropolycyclic compounds	http://purl.obolibrary.org/obo/CHEBI_38166		
CHEBI:38182	monohydroxypyridine	biolink:ChemicalSubstance	mondo			monohydroxypyridines	http://purl.obolibrary.org/obo/CHEBI_38182	A hydroxypyridine carrying a single hydroxy substituent.	
GO:1903431	positive regulation of cell maturation	biolink:OntologyClass	mondo			up-regulation of functional differentiation|upregulation of cell maturation|activation of functional differentiation|up-regulation of cell maturation|upregulation of functional differentiation|up regulation of cell maturation|activation of cell maturation|positive regulation of functional differentiation|up regulation of functional differentiation	http://purl.obolibrary.org/obo/GO_1903431	Any process that activates or increases the frequency, rate or extent of cell maturation.	
HGNC:25491	FRMD4A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25491		
CHEBI:38179	monocyclic heteroarene	biolink:ChemicalSubstance	mondo			monocyclic heteroarenes	http://purl.obolibrary.org/obo/CHEBI_38179		
GO:0002885	positive regulation of hypersensitivity	biolink:OntologyClass	mondo			up regulation of hypersensitivity|stimulation of hypersensitivity|up-regulation of hypersensitivity|activation of hypersensitivity|upregulation of hypersensitivity	http://purl.obolibrary.org/obo/GO_0002885	Any process that activates or increases the frequency, rate, or extent of hypersensitivity.	
GO:0002886	regulation of myeloid leukocyte mediated immunity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002886	Any process that modulates the frequency, rate, or extent of myeloid leukocyte mediated immunity.	
GO:0002887	negative regulation of myeloid leukocyte mediated immunity	biolink:OntologyClass	mondo			down-regulation of myeloid leukocyte mediated immunity|down regulation of myeloid leukocyte mediated immunity|inhibition of myeloid leukocyte mediated immunity|downregulation of myeloid leukocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002887	Any process that stops, prevents, or reduces the frequency, rate, or extent of myeloid leukocyte mediated immunity.	
GO:0002888	positive regulation of myeloid leukocyte mediated immunity	biolink:OntologyClass	mondo			upregulation of myeloid leukocyte mediated immunity|up-regulation of myeloid leukocyte mediated immunity|up regulation of myeloid leukocyte mediated immunity|activation of myeloid leukocyte mediated immunity|stimulation of myeloid leukocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002888	Any process that activates or increases the frequency, rate, or extent of myeloid leukocyte mediated immunity.	
GO:0048285	organelle fission	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0048285	The creation of two or more organelles by division of one organelle.	
GO:0000226	microtubule cytoskeleton organization	biolink:OntologyClass	mondo			microtubule cytoskeleton organization and biogenesis|microtubule cytoskeleton organisation|microtubule dynamics	http://purl.obolibrary.org/obo/GO_0000226	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins.	
GO:0000224	peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity	biolink:OntologyClass	mondo			glycopeptide N-glycosidase activity|PNGase F|PNGase|peptide:N-glycanase|jack-bean glycopeptidase|PNGase A|glycopeptidase activity|N-linked-glycopeptide-(N-acetyl-beta-D-glucosaminyl)-L-asparagine amidohydrolase activity|N-glycanase activity|N-oligosaccharide glycopeptidase activity	http://purl.obolibrary.org/obo/GO_0000224	Catalysis of the reaction: 4-N-(N-acetyl-D-glucosaminyl)-protein + H2O = N-acetyl-beta-D-glucosaminylamine + peptide L-aspartate. This reaction is the hydrolysis of an N4-(acetyl-beta-D-glucosaminyl)asparagine residue in which the N-acetyl-D-glucosamine residue may be further glycosylated, to yield a (substituted) N-acetyl-beta-D-glucosaminylamine and the peptide containing an aspartic residue.	
ENVO:01001501	radiation from a manufactured product	biolink:OntologyClass	mondo			artificial radiation|anthropogenic radiation	http://purl.obolibrary.org/obo/ENVO_01001501	An electromagnetic radiation process during which electromagnetic waves or their quanta are emitted from a manufactured product.	
GO:0002883	regulation of hypersensitivity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002883	Any process that modulates the frequency, rate, or extent of hypersensitivity.	
GO:0002884	negative regulation of hypersensitivity	biolink:OntologyClass	mondo			downregulation of hypersensitivity|down regulation of hypersensitivity|inhibition of hypersensitivity|down-regulation of hypersensitivity	http://purl.obolibrary.org/obo/GO_0002884	Any process that stops, prevents, or reduces the frequency, rate, or extent of hypersensitivity.	
HGNC:25461	PUS3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25461		
CHEBI:26167	polar amino acid	biolink:ChemicalSubstance	mondo			polar amino-acid|polar amino acid|polar amino-acids|polar amino acids	http://purl.obolibrary.org/obo/CHEBI_26167	Any amino acid whose side chain is capable of forming one or more hydrogen bonds.	
GO:0000229	cytoplasmic chromosome	biolink:OntologyClass	mondo			cytoplasmic interphase chromosome	http://purl.obolibrary.org/obo/GO_0000229	A chromosome found in the cytoplasm.	
GO:0000228	nuclear chromosome	biolink:OntologyClass	mondo			nuclear interphase chromosome	http://purl.obolibrary.org/obo/GO_0000228	A chromosome that encodes the nuclear genome and is found in the nucleus of a eukaryotic cell during the cell cycle phases when the nucleus is intact.	
HGNC:13486	USP27X	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13486		
HGNC:13487	VPS35	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13487		
CHEBI:38147	cardiotonic drug	biolink:ChemicalSubstance	mondo			cardiotonic drugs	http://purl.obolibrary.org/obo/CHEBI_38147	A drug that has a strengthening effect on the heart or that can increase cardiac output.	
GO:0002889	regulation of immunoglobulin mediated immune response	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002889	Any process that modulates the frequency, rate, or extent of an immunoglobulin mediated immune response.	
HGNC:13481	UNC93B1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13481		
GO:0002892	regulation of type II hypersensitivity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002892	Any process that modulates the frequency, rate, or extent of type II hypersensitivity.	
GO:0002893	negative regulation of type II hypersensitivity	biolink:OntologyClass	mondo			downregulation of type II hypersensitivity|down regulation of type II hypersensitivity|inhibition of type II hypersensitivity|down-regulation of type II hypersensitivity	http://purl.obolibrary.org/obo/GO_0002893	Any process that stops, prevents, or reduces the frequency, rate, or extent of type II hypersensitivity.	
GO:0002894	positive regulation of type II hypersensitivity	biolink:OntologyClass	mondo			up regulation of type II hypersensitivity|stimulation of type II hypersensitivity|activation of type II hypersensitivity|up-regulation of type II hypersensitivity|upregulation of type II hypersensitivity	http://purl.obolibrary.org/obo/GO_0002894	Any process that activates or increases the frequency, rate, or extent of type II hypersensitivity.	
GO:0002890	negative regulation of immunoglobulin mediated immune response	biolink:OntologyClass	mondo			inhibition of immunoglobulin mediated immune response|downregulation of immunoglobulin mediated immune response|down-regulation of immunoglobulin mediated immune response|down regulation of immunoglobulin mediated immune response	http://purl.obolibrary.org/obo/GO_0002890	Any process that stops, prevents, or reduces the frequency, rate, or extent of an immunoglobulin mediated immune response.	
GO:0002891	positive regulation of immunoglobulin mediated immune response	biolink:OntologyClass	mondo			up-regulation of immunoglobulin mediated immune response|up regulation of immunoglobulin mediated immune response|activation of immunoglobulin mediated immune response|stimulation of immunoglobulin mediated immune response|upregulation of immunoglobulin mediated immune response	http://purl.obolibrary.org/obo/GO_0002891	Any process that activates or increases the frequency, rate, or extent of an immunoglobulin mediated immune response.	
MONDO:0002699	obsolete pancreatic ductal carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002699		
MONDO:0000036	obsolete hemolytic anemia, nonspherocytic	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000036		
MONDO:0000035	obsolete glucocorticoid deficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000035		
MONDO:0000034	obsolete glomerulopathy with fibronectin deposits	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000034		
MONDO:0000033	obsolete frontonasal dysplasia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000033		
MONDO:0002695	sagittal sinus thrombosis	biolink:Disease	mondo	SCTID:192760003|DOID:3576|MESH:D020225|UMLS:C0338575		thrombosis of superior sagittal sinus|thrombosis of superior longitudinal sinus	http://purl.obolibrary.org/obo/MONDO_0002695	Formation or presence of a blood clot (thrombus) in the superior sagittal sinus or the inferior sagittal sinus. Sagittal sinus thrombosis can result from infections, hematological disorders, craniocerebral trauma; and neurosurgical procedures. Clinical features are primarily related to the increased intracranial pressure causing headache; nausea; and vomiting. Severe cases can evolve to seizures or coma.	UMLS:C0338575|DOID:3576|SNOMEDCT:192760003|MESH:D020225
MONDO:0002696	Sertoli cell tumor	biolink:Disease	mondo	UMLS:C0036769|DOID:3577|ICDO:8630/1|NCIT:C39976|ICDO:8640/1|MESH:D012707		tubular androblastoma NOS (morphologic abnormality)|tubular androblastoma|Sertoli cell tumor	http://purl.obolibrary.org/obo/MONDO_0002696	A sex cord-stromal tumor of the testis or the ovary. It is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent. It may be associated with Peutz-Jeghers syndrome. In males, the presenting symptom is a slow growing testicular mass. Most cases follow a benign clinical course. In females it may present with estrogenic or androgenic manifestations. The vast majority of cases have a benign clinical course.	MESH:D012707|DOID:3577|UMLS:C0036769|NCIT:C39976
NCBITaxon:38946	Paracoccidioides	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_38946		
MONDO:0000039	obsolete hypercalciuria, absorptive	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000039		
MONDO:0002697	ovarian gonadoblastoma (disease)	biolink:Disease	mondo	EFO:1000420|DOID:3578|HP:0000149|Orphanet:206484|SCTID:716594002|UMLS:C1518716|OMIM:424500|NCIT:C39985		ovarian gonadoblastoma|gonadoblastoma; GBY|gonadoblastoma of ovary|ovary gonadoblastoma|GBY	http://purl.obolibrary.org/obo/MONDO_0002697	A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites.	DOID:3578|http://identifiers.org/omim/424500|ORPHA:206484|UMLS:C1518716|NCIT:C39985|SNOMEDCT:716594002
MONDO:0000038	obsolete hyper-IgE recurrent infection syndrome	biolink:Disease	mondo	DC:0000192			http://purl.obolibrary.org/obo/MONDO_0000038		
MONDO:0002698	testicular gonadoblastoma (disease)	biolink:Disease	mondo	DOID:3579|UMLS:C1515283|NCIT:C39911|HP:0000030		testis gonadoblastoma|testicular gonadoblastoma|gonadoblastoma of testis	http://purl.obolibrary.org/obo/MONDO_0002698	A testicular mixed germ cell-sex cord-stromal tumor. It is usually associated with mixed gonadal dysgenesis and ambiguous genitalia. It is characterized by the presence of nests of large neoplastic germ cells and immature cells that resemble Sertoli cells.	DOID:3579|NCIT:C39911|UMLS:C1515283
MONDO:0000037	obsolete herpes simplex encephalitis, susceptibility	biolink:Disease	mondo		predisposition		http://purl.obolibrary.org/obo/MONDO_0000037		
MONDO:0002691	liver cancer	biolink:Disease	mondo	SCTID:93870000|UMLS:C0854795|ICD9:155.0|NCIT:C34803|UMLS:C0345904|DOID:3571|UMLS:C0024620|ICD10:C22.0|GARD:0006608|ICD9:155.2|ICD10:C22.9		liver cancer|hepatic neoplasm|malignant liver neoplasm|primary liver cancer|malignant neoplasm of liver|non-resectable primary hepatic malignant neoplasm|malignant hepato-biliary neoplasm|resectable malignant neoplasm of the liver|hepatic cancer|cancer of liver|neoplasm of liver|Ca liver - primary|ca liver - primary|malignant neoplasm of liver, not specified as primary or secondary|primary cancer of liver|malignant neoplasm of liver, primary|primary malignant neoplasm of liver|primary tumor of the liver|primary malignant liver neoplasm|malignant tumor of liver|Resectable malignant neoplasm of liver	http://purl.obolibrary.org/obo/MONDO_0002691	An epithelial or non-epithelial malignant neoplasm that arises from the liver. Representative examples include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and sarcoma.	NCIT:C34803|UMLS:C0024620|DOID:3571|UMLS:C0854795|SNOMEDCT:93870000|UMLS:C0345904
MONDO:0002692	intracranial sinus thrombosis	biolink:Disease	mondo	UMLS:C0037198|DOID:3572|MESH:D012851			http://purl.obolibrary.org/obo/MONDO_0002692	Formation or presence of a blood clot (thrombus) in the cranial sinuses, large endothelium-lined venous channels situated within the skull. Intracranial sinuses, also called cranial venous sinuses, include the superior sagittal, cavernous, lateral, petrous sinuses, and many others. Cranial sinus thrombosis can lead to severe headache; seizure; and other neurological defects.	MESH:D012851|DOID:3572|UMLS:C0037198
MONDO:0002693	lateral sinus thrombosis	biolink:Disease	mondo	SCTID:192761004|DOID:3574|MESH:D020227|UMLS:C0270639		thrombosis transverse sinus|thrombosis of lateral venous sinus	http://purl.obolibrary.org/obo/MONDO_0002693	Formation or presence of a blood clot (thrombus) in the lateral sinuses. This condition is often associated with ear infections (otitis media or mastoiditis) without antibiotic treatment. In developed nations, lateral sinus thrombosis can result from craniocerebral trauma; brain neoplasms; neurosurgical procedures; thrombophilia; and other conditions. Clinical features include headache; vertigo; and increased intracranial pressure.	SNOMEDCT:192761004|DOID:3574|MESH:D020227|UMLS:C0270639
MONDO:0002694	cavernous sinus thrombosis	biolink:Disease	mondo	DOID:3575|MESH:D020226|UMLS:C0238454|SCTID:89980009		thrombosis of cavernous venous sinus	http://purl.obolibrary.org/obo/MONDO_0002694	Formation or presence of a blood clot (thrombus) in the cavernous sinus of the brain. Infections of the paranasal sinuses and adjacent structures, craniocerebral trauma, and thrombophilia are associated conditions. Clinical manifestations include dysfunction of cranial nerves iii, iv, V, and vi, marked periorbital swelling, chemosis, fever, and visual loss. (From Adams et al., Principles of Neurology, 6th ed, p711)	DOID:3575|MESH:D020226|UMLS:C0238454|SNOMEDCT:89980009
MONDO:0000032	febrile seizures, familial	biolink:Disease	mondo	OMIMPS:121210|DOID:0111297|DC:0000159		seizures, familial febrile	http://purl.obolibrary.org/obo/MONDO_0000032		DOID:0111297
MONDO:0000031	obsolete fatty liver disease, nonalcoholic	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000031		
HGNC:25443	C19orf12	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25443		
MONDO:0000030	epilepsy, nocturnal frontal lobe	biolink:Disease	mondo	DC:0000154|OMIMPS:600513			http://purl.obolibrary.org/obo/MONDO_0000030		
MONDO:0002690	obsolete meningioma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002690		
MONDO:0014688	short-rib thoracic dysplasia 14 with polydactyly	biolink:Disease	mondo	UMLS:C4225286|OMIM:616546|DOID:0110096|ICD10:Q04.3		short-rib thoracic dysplasia 14 with polydactyly; SRTD14|SRTD14|short-rib thoracic dysplasia 14 with polydactyly	http://purl.obolibrary.org/obo/MONDO_0014688	An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23.	UMLS:C4225286|DOID:0110096|http://identifiers.org/omim/616546
NCBITaxon:204428	Chlamydiae	organism taxon	mondo	PMID:29458499|PMID:26654112|PMID:24185849|GC_ID:11		Chlamydiota|Chlamydaeota	http://purl.obolibrary.org/obo/NCBITaxon_204428		
MONDO:0012025	branchiootic syndrome 3	biolink:Disease	mondo	UMLS:C1842124|OMIM:608389|MESH:C564248		branchiootic syndrome 3; BOS3|BOS3|branchiootic syndrome caused by mutation in SIX1|branchiootic syndrome 3|branchiootic syndrome type 3|bo syndrome 3|SIX1 branchiootic syndrome	http://purl.obolibrary.org/obo/MONDO_0012025	Any branchiootic syndrome in which the cause of the disease is a mutation in the SIX1 gene.	UMLS:C1842124|MESH:C564248|http://identifiers.org/omim/608389
MONDO:0014687	retinitis pigmentosa 73	biolink:Disease	mondo	ICD10:H35.5|UMLS:C4225287|OMIM:616544|DOID:0110389		retinitis pigmentosa 73; RP73|retinitis pigmentosa 73|retinitis pigmentosa caused by mutation in HGSNAT|retinitis pigmentosa type 73|RP73|HGSNAT retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0014687	Any retinitis pigmentosa in which the cause of the disease is a mutation in the HGSNAT gene.	UMLS:C4225287|DOID:0110389|http://identifiers.org/omim/616544
MONDO:0012026	obsolete myotonia, potassium-aggravated	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0012026		
MONDO:0012023	autosomal dominant nonsyndromic deafness 49	biolink:Disease	mondo	OMIM:608372|MESH:C564250|ICD10:H90.3|DOID:0110572|UMLS:C1842136		autosomal dominant deafness 49|deafness, autosomal dominant 49|DFNA49|autosomal dominant nonsyndromic deafness type 49|deafness, autosomal dominant 49; DFNA49	http://purl.obolibrary.org/obo/MONDO_0012023	An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has material basis in variation in the chromosome region 1q21-q23.	UMLS:C1842136|MESH:C564250|DOID:0110572|http://identifiers.org/omim/608372
MONDO:0014686	short stature, microcephaly, and endocrine dysfunction	biolink:Disease	mondo	UMLS:C4225288|OMIM:616541		short stature, microcephaly, and endocrine dysfunction|SSMED|short stature, microcephaly, and endocrine dysfunction; SSMED	http://purl.obolibrary.org/obo/MONDO_0014686		UMLS:C4225288|http://identifiers.org/omim/616541
MONDO:0012024	retinitis pigmentosa 26	biolink:Disease	mondo	ICD10:H35.5|OMIM:608380|GARD:0010397|DOID:0110368|UMLS:C1842127|MESH:C564249	gard_rare	CERKL retinitis pigmentosa|retinitis pigmentosa caused by mutation in CERKL|RP 26|retinitis pigmentosa type 26|retinitis pigmentosa 26; RP26|retinitis pigmentosa 26|RP26	http://purl.obolibrary.org/obo/MONDO_0012024	Any retinitis pigmentosa in which the cause of the disease is a mutation in the CERKL gene.	UMLS:C1842127|MESH:C564249|DOID:0110368|http://identifiers.org/omim/608380
MONDO:0014685	progressive myoclonic epilepsy type 9	biolink:Disease	mondo	UMLS:C4225289|OMIM:616540|Orphanet:457265|DOID:0111450|ICD10:G40.3	ordo_disease	PME type 9|LMNB2 progressive myoclonic epilepsy|progressive myoclonus epilepsy type 9|epilepsy, progressive myoclonic, type 9|progressive myoclonic epilepsy due to LMNB2 deficiency|EPM9|progressive myoclonic epilepsy caused by mutation in LMNB2|epilepsy, progressive myoclonic, 9; EPM9|epilepsy, progressive myoclonic, 9	http://purl.obolibrary.org/obo/MONDO_0014685	Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the LMNB2 gene.	UMLS:C4225289|DOID:0111450|ORPHA:457265|http://identifiers.org/omim/616540
NCBITaxon:204429	Chlamydiia	organism taxon	mondo	PMID:26179278|GC_ID:11		Chlamydiae	http://purl.obolibrary.org/obo/NCBITaxon_204429		
MONDO:0012029	microcephaly 6, primary, autosomal recessive	biolink:Disease	mondo	MESH:C564247|OMIM:608393|UMLS:C1842109|DOID:0070290		MCPH6|autosomal recessive primary microcephaly caused by mutation in CENPJ|microcephaly 6, primary, autosomal recessive|CENPJ autosomal recessive primary microcephaly|microcephaly 6, primary, autosomal recessive; MCPH6	http://purl.obolibrary.org/obo/MONDO_0012029	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPJ gene.	http://identifiers.org/omim/608393|UMLS:C1842109|MESH:C564247|DOID:0070290
MONDO:0012027	AIS2	biolink:Disease	mondo	OMIM:608391	predisposition	AIS2|autoimmune disease, susceptibility to, 2|vitiligo-associated multiple autoimmune disease susceptibility 3|autoimmune disease susceptibility locus, chromosome 7-related|autoimmune disease, susceptibility to, 2; AIS2	http://purl.obolibrary.org/obo/MONDO_0012027		http://identifiers.org/omim/608391
MONDO:0014689	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome	biolink:Disease	mondo	Orphanet:447974|DOID:0080592|UMLS:C4225285|ICD10:Q76.1|OMIM:616549	ordo_malformation_syndrome	Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism; KFS4|Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism|Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism|KFS4|Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism; KFS4	http://purl.obolibrary.org/obo/MONDO_0014689		DOID:0080592|UMLS:C4225285|ORPHA:447974|http://identifiers.org/omim/616549
MONDO:0012028	AIS3	biolink:Disease	mondo	OMIM:608392	predisposition	autoimmune disease, susceptibility to, 3|vitiligo-associated multiple autoimmune disease susceptibility 4|autoimmune disease, susceptibility to, 3; AIS3|autoimmune disease susceptibility locus, chromosome 8-related|AIS3	http://purl.obolibrary.org/obo/MONDO_0012028		http://identifiers.org/omim/608392
MONDO:0014680	herpes simplex encephalitis, susceptibility to, 7	biolink:Disease	mondo	OMIM:616532	predisposition	herpes simplex encephalitis, susceptibility to, 7|herpes simplex encephalitis caused by mutation in IRF3|IIAE7|IRF3 herpes simplex encephalitis|encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 7; IIAE7|Herpes simplex encephalitis, susceptibility to, 5|encephalopathy, acute, infection-induced, susceptibility to, 7|Herpes simplex encephalitis, susceptibility to, type 7|encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 7	http://purl.obolibrary.org/obo/MONDO_0014680	Any herpes simplex encephalitis in which the cause of the disease is a mutation in the IRF3 gene.	http://identifiers.org/omim/616532
CHEBI:90710	receptor modulator	biolink:ChemicalSubstance	mondo			receptor modulators	http://purl.obolibrary.org/obo/CHEBI_90710	A drug that acts as an antagonist, agonist, reverse agonist, or in some other fashion when interacting with cellular receptors.	
MONDO:0014684	combined oxidative phosphorylation defect type 26	biolink:Disease	mondo	Orphanet:477684|EFO:0009036|UMLS:C4225290|DOID:0111490|OMIM:616539	ordo_disease	COXPD26|combined oxidative phosphorylation deficiency 26|combined oxidative phosphorylation deficiency 26; COXPD26|TRMT5 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in TRMT5|combined oxidative phosphorylation deficiency type 26	http://purl.obolibrary.org/obo/MONDO_0014684	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT5 gene.	UMLS:C4225290|ORPHA:477684|DOID:0111490|http://identifiers.org/omim/616539
MONDO:0012021	MYP17	biolink:Disease	mondo	UMLS:C3888211|OMIM:608367		MYP17|myopia 17, autosomal dominant; MYP17|myopia 4, formerly|myopia 4|myopia 17, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0012021		UMLS:C3888211|http://identifiers.org/omim/608367
MONDO:0012022	orofacial cleft 4	biolink:Disease	mondo	DOID:0080398|MESH:C564251|UMLS:C1842143|OMIM:608371		orofacial cleft 4|orofacial cleft 4; OFC4|cleft lip with or without cleft palate, nonsyndromic, 4|OFC4	http://purl.obolibrary.org/obo/MONDO_0012022		UMLS:C1842143|MESH:C564251|http://identifiers.org/omim/608371|DOID:0080398
MONDO:0014683	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	biolink:Disease	mondo	DOID:0111232|UMLS:C4225291|OMIM:616538		MDDGA9|Walker-Warburg syndrome or muscle-eye brain disease, Dag1-related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9; MDDGA9	http://purl.obolibrary.org/obo/MONDO_0014683		http://identifiers.org/omim/616538|UMLS:C4225291|DOID:0111232
MONDO:0014682	thyroid cancer, nonmedullary, 5	biolink:Disease	mondo	OMIM:616535|UMLS:C4225292		thyroid cancer, nonmedullary, type 5|NMTC5|thyroid cancer, nonmedullary caused by mutation in HABP2|HABP2 thyroid cancer, nonmedullary|thyroid cancer, nonmedullary, 5; NMTC5|thyroid cancer, nonmedullary, 5	http://purl.obolibrary.org/obo/MONDO_0014682	Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the HABP2 gene.	http://identifiers.org/omim/616535|UMLS:C4225292
MONDO:0012020	chromosome 22q11.2 microduplication syndrome	biolink:Disease	mondo	MESH:C567224|ICD10:Q92.3|OMIM:608363|UMLS:C2675369|GARD:0010557|SCTID:699311001|DOID:0060436|ICD9:758.5|Orphanet:1727	gard_rare|ordo_malformation_syndrome	trisomy 22q11.2|duplication 22q11.2|chromosome 22q11.2 microduplication syndrome|chromosome 22q11.2 DUPLICATION syndrome|chromosome 22q11.2 duplication syndrome|22q11.2 microduplication syndrome|22q11.2 duplication|Duplication 22q11.2|dup(22)(q11)|22q11.2 duplication syndrome	http://purl.obolibrary.org/obo/MONDO_0012020	The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS), establishing a complementary duplication syndrome.	ORPHA:1727|DOID:0060436|SNOMEDCT:699311001|MESH:C567224|http://identifiers.org/omim/608363|UMLS:C2675369
MONDO:0014681	thyroid cancer, nonmedullary, 4	biolink:Disease	mondo	OMIM:616534|UMLS:C4225293		thyroid cancer, nonmedullary, type 4|thyroid cancer, nonmedullary caused by mutation in FOXE1|NMTC4|FOXE1 thyroid cancer, nonmedullary|thyroid cancer, nonmedullary, 4; NMTC4|thyroid cancer, nonmedullary, 4	http://purl.obolibrary.org/obo/MONDO_0014681	Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the FOXE1 gene.	http://identifiers.org/omim/616534|UMLS:C4225293
MONDO:0000047	obsolete immunodeficiency with hyper-IgM	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000047		
MONDO:0000046	obsolete hypouricemia, renal	biolink:Disease	mondo	DC:0000219			http://purl.obolibrary.org/obo/MONDO_0000046		
MONDO:0000045	hypothyroidism, congenital, nongoitrous	biolink:Disease	mondo	OMIMPS:275200|DC:0000217			http://purl.obolibrary.org/obo/MONDO_0000045		
CHEBI:77746	human metabolite	biolink:ChemicalSubstance	mondo			H. sapiens metabolites|H. sapiens metabolite|Homo sapiens metabolite|Homo sapiens metabolites	http://purl.obolibrary.org/obo/CHEBI_77746	Any mammalian metabolite  produced during a metabolic reaction in humans (Homo sapiens).	
MONDO:0000044	hereditary hypophosphatemic rickets	biolink:Disease	mondo	GARD:0006735|Orphanet:437|MedDRA:10060873|ICD10:E83.3|OMIMPS:193100|DC:0000215	gard_rare|ordo_group_of_disorders	hereditary hypophosphatemic rickets	http://purl.obolibrary.org/obo/MONDO_0000044	Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium.	ORPHA:437|UMLS:C1704375|MEDDRA:10060873
HGNC:6080	INPPL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6080		
ENVO:01001598	Ile Europa and Bassas da India Ecoregion	biolink:OntologyClass	mondo			Southern Africa: Islands about half-way between southern Madagascar and southern Mozambique Ecoregion	http://purl.obolibrary.org/obo/ENVO_01001598		
ENVO:01001597	Kalahari Xeric Savanna Ecoregion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001597		
HGNC:6081	INS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6081		
MONDO:0000049	obsolete invasive pneumococcal disease, recurrent isolated	biolink:Disease	mondo	UMLS:CN228622|OMIMPS:610799|DC:0000227			http://purl.obolibrary.org/obo/MONDO_0000049		UMLS:CN228622
MONDO:0000048	obsolete immunoglobulin A deficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000048		
ENVO:01001599	Hobyo Grassland and Shrubland Ecoregion	biolink:OntologyClass	mondo			Eastern Africa: Somalia	http://purl.obolibrary.org/obo/ENVO_01001599		
MONDO:0012009	coronary heart disease, susceptibility to, 2	biolink:Disease	mondo	UMLS:C1842260|OMIM:608316	predisposition	coronary heart disease, susceptibility to, 2|coronary heart disease, susceptibility to, type 2|Chds2	http://purl.obolibrary.org/obo/MONDO_0012009		http://identifiers.org/omim/608316|UMLS:C1842260
MONDO:0000043	obsolete hypomagnesemia	biolink:Disease	mondo	DC:0000212			http://purl.obolibrary.org/obo/MONDO_0000043		
HGNC:25455	TSR2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25455		
MONDO:0000042	obsolete hyperprolinemia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000042		
MONDO:0000041	obsolete hyperphosphatasia with mental retardation syndrome	biolink:Disease	mondo	DC:0000203			http://purl.obolibrary.org/obo/MONDO_0000041		
MONDO:0000040	obsolete hyperphenylalaninemia, BH4-deficient	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000040		
MONDO:0012014	Charcot-Marie-Tooth disease recessive intermediate a	biolink:Disease	mondo	Orphanet:217055|MESH:C564256|ICD10:G60.0|DOID:0110201|UMLS:C1842197|GARD:0012453|OMIM:608340	ordo_disease	Charcot-Marie-Tooth disease caused by mutation in GDAP1|Ri-Cmta|RI-CMTA|autosomal recessive intermediate Charcot-Marie-Tooth disease type A|Charcot-Marie-Tooth disease, recessive intermediate A|RI-CMT type A|Charcot-Marie-Tooth neuropathy, recessive Intermediate a|Charcot-Marie-Tooth disease recessive intermediate type A|Charcot-Marie-Tooth neuropathy recessive intermediate A|Charcot-Marie-Tooth disease, recessive intermediate A; CMTRIA|GDAP1 Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, recessive Intermediate type a|Charcot-Marie-Tooth disease, recessive intermediate, A|CMTRIA	http://purl.obolibrary.org/obo/MONDO_0012014	Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology.	http://identifiers.org/omim/608340|UMLS:C1842197|DOID:0110201|MESH:C564256|ORPHA:217055
MONDO:0014677	achromatopsia 7	biolink:Disease	mondo	DOID:0110009|UMLS:C4225297|OMIM:616517		achromatopsia caused by mutation in ATF6|ATF6 achromatopsia|achromatopsia 7; ACHM7|achromatopsia type 7|ACHM7|achromatopsia 7	http://purl.obolibrary.org/obo/MONDO_0014677	Any achromatopsia in which the cause of the disease is a mutation in the ATF6 gene.	UMLS:C4225297|DOID:0110009|http://identifiers.org/omim/616517
MONDO:0014676	Emery-Dreifuss muscular dystrophy 3, autosomal recessive	biolink:Disease	mondo	OMIM:616516|MESH:C567633|UMLS:C2750035|DOID:0070248		Emery-Dreifuss muscular dystrophy 3, autosomal recessive|EMERY-Dreifuss muscular dystrophy 3, autosomal recessive; EDMD3|autosomal recessive Emery-Dreifuss muscular dystrophy caused by mutation in LMNA|EDMD3|LMNA autosomal recessive Emery-Dreifuss muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0014676	Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene.	MESH:C567633|UMLS:C2750035|http://identifiers.org/omim/616516|DOID:0070248
MONDO:0012015	NYS3	biolink:Disease	mondo	MESH:C537855|UMLS:C1842186|GARD:0009600|OMIM:608345		NYS3|NYSTAGMUS 3, congenital, autosomal dominant; NYS3|NYSTAGMUS 3, congenital, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0012015		http://identifiers.org/omim/608345|MESH:C537855|UMLS:C1842186
MONDO:0014675	autosomal recessive nonsyndromic deafness 104	biolink:Disease	mondo	OMIM:616515|UMLS:C4225298|DOID:0110465|ICD10:H90.3		autosomal recessive nonsyndromic deafness caused by mutation in RIPOR2|autosomal recessive nonsyndromic deafness type 104|DFNB104|deafness, autosomal recessive type 104|RIPOR2 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 104; DFNB104|deafness, autosomal recessive 104|autosomal recessive deafness 104	http://purl.obolibrary.org/obo/MONDO_0014675	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RIPOR2 gene.	UMLS:C4225298|DOID:0110465|http://identifiers.org/omim/616515
MONDO:0012012	Charcot-Marie-Tooth disease dominant intermediate c	biolink:Disease	mondo	ICD10:G60.0|MESH:C564257|GARD:0012439|UMLS:C1842237|Orphanet:100045|DOID:0110199|OMIM:608323|SCTID:765746008	ordo_disease	Di-Cmtc|Charcot-Marie-Tooth neuropathy dominant intermediate C|YARS-related intermediate Charcot-Marie-Tooth neuropathy|Charcot-Marie-Tooth disease dominant intermediate type C|Charcot-Marie-Tooth disease caused by mutation in YARS|Charcot-Marie-Tooth disease, dominant intermediate C|YARS Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, dominant intermediate C; CMTDIC|CMTDIC|Charcot-Marie-Tooth neuropathy, dominant Intermediate C|autosomal dominant intermediate Charcot-Marie-Tooth disease type C|DI-CMTC|Charcot-Marie-Tooth disease, dominant Intermediate type C	http://purl.obolibrary.org/obo/MONDO_0012012	Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs.	SNOMEDCT:765746008|DOID:0110199|UMLS:C1842237|MESH:C564257|ORPHA:100045|http://identifiers.org/omim/608323
MONDO:0012013	glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome	biolink:Disease	mondo	OMIM:608328|GARD:0002452|ICD10:Q87.1|SCTID:722450007|Orphanet:2084	ordo_malformation_syndrome	glaucoma, ectopia, microspherophakia, Stiff joints and short stature syndrome|mesodermal Dysmorphodystrophy, congenital|Weill-Marchesani syndrome 2|glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome|Weill-Marchesani syndrome type 2|spherophakia-brachymorphia syndrome|Weill-Marchesani syndrome 2; WMS2|WMS2|GEMSS syndrome|GEMSS|Weill-Marchesani syndrome, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0012013	Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome is characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome.	http://identifiers.org/omim/608328|SNOMEDCT:722450007|UMLS:C2931588|ORPHA:2084
MONDO:0014674	maturity-onset diabetes of the young type 14	biolink:Disease	mondo	UMLS:C4225299|OMIM:616511|DOID:0111111		maturity-onset diabetes of the young, type 14; MODY14|maturity-onset diabetes of the young (disease) caused by mutation in APPL1|maturity-onset diabetes of the young, type 14|MODY14|APPL1 maturity-onset diabetes of the young (disease)	http://purl.obolibrary.org/obo/MONDO_0014674	Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the APPL1 gene.	DOID:0111111|UMLS:C4225299|http://identifiers.org/omim/616511
MONDO:0012018	myopathy, myosin storage, autosomal dominant	biolink:Disease	mondo	UMLS:C1842160|ICD9:359.89|MESH:C564253|OMIM:608358|SCTID:699267007		myopathy with lysis of type 1 myofibrils|MSMA|myopathy, myosin storage, autosomal dominant|myopathy, myosin storage, autosomal dominant; MSMA|myopathy, hyaline body, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0012018		http://identifiers.org/omim/608358|SNOMEDCT:699267007|UMLS:C1842160|MESH:C564253
MONDO:0012019	spondyloepiphyseal dysplasia, Kimberley type	biolink:Disease	mondo	OMIM:608361|ICD10:Q77.7|Orphanet:93283|MESH:C564252|SCTID:719203001	ordo_disease	spondyloepiphyseal dysplasia, Kimberley type|Sedk|spondyloepiphyseal dysplasia, Kimberley type; SEDK	http://purl.obolibrary.org/obo/MONDO_0012019	Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy.	http://identifiers.org/omim/608361|SNOMEDCT:719203001|MESH:C564252|ORPHA:93283
HGNC:13478	UBE3B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13478		
MONDO:0012016	capillary malformation-arteriovenous malformation syndrome	biolink:Disease	mondo	Orphanet:137667|OMIMPS:608354|MESH:C564254|ICD10:Q27.3|ICD9:747.69|SCTID:703533007|GARD:0011904	ordo_malformation_syndrome|gard_rare	CM-AVM|capillary malformation-arteriovenous malformation; CMAVM|CMAVM|CM-AVM syndrome|capillary malformation without arteriovenous malformation|capillary malformation-arteriovenous malformation	http://purl.obolibrary.org/obo/MONDO_0012016	This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas.	ORPHA:137667|MESH:C564254|SNOMEDCT:703533007
MONDO:0014679	polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	biolink:Disease	mondo	OMIM:616531|UMLS:C4225295		PMGYCHA|polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis|polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis; PMGYCHA	http://purl.obolibrary.org/obo/MONDO_0014679		UMLS:C4225295|http://identifiers.org/omim/616531
MONDO:0014678	intellectual disability, autosomal dominant 39	biolink:Disease	mondo	OMIM:616521|DOID:0070069|UMLS:C4225296		autosomal dominant intellectual disability 39|chromosome 2P25.3 Duplication syndrome|autosomal dominant non-syndromic intellectual disability 39|autosomal dominant mental retardation 39|mental retardation, autosomal dominant type 39|chromosome 2P25.3 deletion syndrome|mental retardation, autosomal dominant 39|intellectual disability, autosomal dominant 39|intellectual disability, autosomal dominant 39; MRD39|autosomal dominant non-syndromic intellectual disability caused by mutation in MYT1L|MRD39|MYT1L autosomal dominant non-syndromic intellectual disability|mental retardation, autosomal dominant 39; MRD39|intellectual disability, autosomal dominant type 39	http://purl.obolibrary.org/obo/MONDO_0014678	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MYT1L gene.	UMLS:C4225296|http://identifiers.org/omim/616521|DOID:0070069
MONDO:0012017	Parkes Weber syndrome	biolink:Disease	mondo	SCTID:234143003|ICD9:759.6|Orphanet:90307|ICD10:Q87.2|OMIM:608355|GARD:0009787|UMLS:CN206396|UMLS:CN074207	ordo_clinical_subtype|gard_rare	PARKES WEBER syndrome; PKWS|Parkes Weber syndrome|Pkws	http://purl.obolibrary.org/obo/MONDO_0012017	Parkes Weber syndrome (PWS) is a rare congenital condition characterized by a large number of abnormal blood vessels.The main signs and symptoms of PWS typically include a capillary malformation on the skin; hypertrophy (excessive growth) ofthe bone and soft tissue of the affected limb; and multiple arteriovenousfistulas (abnormal connections between arteries and veins) which canpotentially lead to heart failure. There also may be pain in the affected limb and a difference in size between the limbs. Some cases of Parkes Weber syndrome result from mutations inthe RASA1 gene, andare inherited in an autosomal dominant manner. In these cases, affected people usually have multiple capillary malformations. People with PWS without multiple capillary malformations are unlikely to have mutations in the RASA1 gene; in these cases, the cause of the condition is often unknown. Management typically depends on the presence and severity of symptoms and may includeembolization or surgery in the affected limb.	UMLS:CN074207|ORPHA:90307|http://identifiers.org/omim/608355|SNOMEDCT:234143003|UMLS:CN206396
ENVO:01001594	Madagascar Succulent Woodlands Ecoregion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001594		
ENVO:01001593	Masai Xeric Grasslands and Shrublands Ecoregion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001593		
ENVO:01001596	Kaokoveld Desert Ecoregion	biolink:OntologyClass	mondo			Africa: Coastal Namibia and Angola Ecoregion	http://purl.obolibrary.org/obo/ENVO_01001596		
HGNC:6086	INSL3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6086		
ENVO:01001595	Madagascar Spiny Thickets Ecoregion	biolink:OntologyClass	mondo			Madagascar spiny desert ecoregion	http://purl.obolibrary.org/obo/ENVO_01001595		
MONDO:0012010	coronary heart disease, susceptibility to, 4	biolink:Disease	mondo	OMIM:608318|UMLS:C1842258	predisposition	coronary heart disease, susceptibility to, type 4|Chds4|coronary heart disease, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0012010		UMLS:C1842258|http://identifiers.org/omim/608318
MONDO:0014673	cataract 44	biolink:Disease	mondo	UMLS:C4225300|DOID:0110267|ICD10:Q12.0|OMIM:616509		cataract type 44|cataract 44; CTRCT44|CTRCT44|early-onset non-syndromic cataract caused by mutation in LSS|cataract 44|total early-onset cataract|LSS early-onset non-syndromic cataract	http://purl.obolibrary.org/obo/MONDO_0014673	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LSS gene.	UMLS:C4225300|DOID:0110267|http://identifiers.org/omim/616509
ENVO:01001590	Namibian Savanna Woodland Ecoregion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001590		
MONDO:0012011	coronary artery disease, autosomal dominant, 1	biolink:Disease	mondo	UMLS:C1842247|MESH:C564258|OMIM:608320		coronary artery disease, autosomal dominant, type 1|MEF2A coronary artery disease|ADCAD1|coronary artery disease with myocardial infarction|coronary artery disease, autosomal dominant, 1; ADCAD1|coronary artery disease caused by mutation in MEF2A|coronary artery disease, autosomal dominant, 1	http://purl.obolibrary.org/obo/MONDO_0012011	Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene.	UMLS:C1842247|MESH:C564258|http://identifiers.org/omim/608320
MONDO:0014672	osteogenesis imperfecta type 17	biolink:Disease	mondo	UMLS:C4225301|DOID:0110338|OMIM:616507|ICD10:Q78.0		osteogenesis imperfecta, type XVII; OI17|osteogenesis imperfecta type XVII|SPARC osteogenesis imperfecta|OI17|osteogenesis imperfecta caused by mutation in SPARC|osteogenesis imperfecta, type XVII|osteogenesis imperfecta, type 17	http://purl.obolibrary.org/obo/MONDO_0014672	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SPARC gene.	UMLS:C4225301|DOID:0110338|http://identifiers.org/omim/616507
MONDO:0014671	neuropathy, hereditary motor and sensory, type 6B	biolink:Disease	mondo	EFO:0009075|UMLS:C4225302|OMIM:616505		HMSN 6B|neuropathy, hereditary motor and sensory, type VIB; HMSN6B|HMSN6B|CMT6B|Charcot-Marie-Tooth disease, type 6B|neuropathy, hereditary motor and sensory, type VIB|hereditary motor and sensory neuropathy type 6 caused by mutation in SLC25A46|SLC25A46 hereditary motor and sensory neuropathy type 6	http://purl.obolibrary.org/obo/MONDO_0014671	Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the SLC25A46 gene.	UMLS:C4225302|http://identifiers.org/omim/616505
ENVO:01001592	Nama Karoo Ecoregion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001592		
MONDO:0014670	lethal congenital contracture syndrome 9	biolink:Disease	mondo	OMIM:616503|UMLS:C4225303		lethal congenital contracture syndrome 9|ADGRG6 lethal congenital contracture syndrome|lethal congenital contracture syndrome 9; LCCS9|LCCS9|lethal congenital contracture syndrome caused by mutation in ADGRG6|lethal congenital contracture syndrome type 9	http://purl.obolibrary.org/obo/MONDO_0014670	Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADGRG6 gene.	UMLS:C4225303|http://identifiers.org/omim/616503
ENVO:01001591	Namib Desert Ecoregion	biolink:OntologyClass	mondo			Africa: Namibia Ecoregion	http://purl.obolibrary.org/obo/ENVO_01001591		
MONDO:0002677	conventional fibrosarcoma	biolink:Disease	mondo	NCIT:C9429|UMLS:C1333156|DOID:3517		conventional fibrosarcoma|classical fibrosarcoma|classic fibrosarcoma	http://purl.obolibrary.org/obo/MONDO_0002677	A malignant mesenchymal neoplasm composed of fibroblasts, and characterized by collagen production and usually a herringbone architectural pattern.	UMLS:C1333156|NCIT:C9429|DOID:3517
MONDO:0000014	colorblindness, partial	biolink:Disease	mondo	DC:0000090			http://purl.obolibrary.org/obo/MONDO_0000014		
MONDO:0002678	pediatric fibrosarcoma	biolink:Disease	mondo	UMLS:C0279981|NCIT:C8088|DOID:3520		childhood adult fibrosarcoma|childhood fibrosarcoma|adult fibrosarcoma of childhood|pediatric adult fibrosarcoma|pediatric adult fibrosarcoma|pediatric fibrosarcoma|fibrosarcoma	http://purl.obolibrary.org/obo/MONDO_0002678	A malignant neoplasm arising from the deep soft tissues in children. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.	UMLS:C0279981|NCIT:C8088|DOID:3520
MONDO:0000013	obsolete choroidal dystrophy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000013		
MONDO:0002679	cerebral infarction	biolink:Disease	mondo	DOID:3526|NCIT:C50486|ICD9:433.01|ICD9:433.21|MESH:D002544|ICD9:433.31|ICD10:I63|UMLS:C0007785|COHD:443454|SCTID:432504007|ICD9:433.81|ICD10:I63.9|ICD9:434.91		telencephalon brain infarction|cerebral ischemia|brain infarction of telencephalon|cerebral infarction|infarction, cerebral|cerebral, infarction|cerebral infarction NOS|cerebral infarct|CVA - cerebral infarction	http://purl.obolibrary.org/obo/MONDO_0002679	An ischemic condition of the brain, producing a persistent focal neurological deficit in the area of distribution of the cerebral arteries.	MESH:D002544|NCIT:C50486|DOID:3526|UMLS:C0007785|SNOMEDCT:432504007
MONDO:0000012	obsolete choreoathetosis (disease)	biolink:Disease	mondo	DC:0000083			http://purl.obolibrary.org/obo/MONDO_0000012		
MONDO:0000011	obsolete chondrodysplasia	biolink:Disease	mondo	DC:0000080			http://purl.obolibrary.org/obo/MONDO_0000011		
MONDO:0002673	obsolete dermatofibrosarcoma protuberans	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002673		
MONDO:0000018	obsolete myotonic dystrophy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000018		
HGNC:6091	INSR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6091		
MONDO:0000017	obsolete deafness, autosomal recessive	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000017		
MONDO:0002674	stricture or kinking of ureter	biolink:Disease	mondo	ICD9:593.3|DOID:3508			http://purl.obolibrary.org/obo/MONDO_0002674		DOID:3508
MONDO:0002675	neurofibrosarcoma	biolink:Disease	mondo	DOID:3512|MESH:D018319|GARD:0008211		neurosarcoma|neurosarcoma [obs]	http://purl.obolibrary.org/obo/MONDO_0002675	A malignant tumor that arises from small cutaneous nerves, is locally aggressive, and has a potential for metastasis. Characteristic histopathologic features include proliferating atypical spindle cells with slender wavy and pointed nuclei, hypocellular areas, and areas featuring organized whorls of fibroblastic proliferation. The most common primary sites are the extremities, retroperitoneum, and trunk. These tumors tend to present in childhood, often in association with neurofibromatosis 1. (From DeVita et al., Cancer: Principles & Practice of Oncology, 5th ed, p1662; Mayo Clin Proc 1990 Feb;65(2):164-72)	DOID:3512|MESH:D018319
MONDO:0000016	obsolete coronary heart disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000016		
MONDO:0002676	adult fibrosarcoma	biolink:Disease	mondo	DOID:3516|UMLS:C0278595|NCIT:C7809		adult fibrosarcoma (disease)|fibrosarcoma (disease) of adults|adult fibrosarcoma|fibrosarcoma	http://purl.obolibrary.org/obo/MONDO_0002676	A malignant mesenchymal neoplasm composed of fibroblasts. It is characterized by collagen production and a herringbone architectural pattern. It is more commonly seen in middle-aged and older adults. It usually affects the deep soft tissues of extremities, trunk, head and neck. Adult fibrosarcomas may recur and metastasize to the lungs and bones.	UMLS:C0278595|DOID:3516|NCIT:C7809
MONDO:0000015	classic complement early component deficiency	biolink:Disease	mondo	UMLS:C1285186|ICD9:279.8|GARD:0009526|SCTID:363009005|DC:0000094	gard_rare	genetic deficiency of early component of the classical complement pathway	http://purl.obolibrary.org/obo/MONDO_0000015	A genetic deficiency of any early component of the classical pathway (C1q, C1r/s, C2, C4, and C3) that is associated with autoimmune diseases due to the failure of clearance of immune complexes (IC) and apoptotic materials, and the impairment of normal humoral response.	SNOMEDCT:363009005|UMLS:C1285186
MONDO:0002670	ampulla of vater adenocarcinoma	biolink:Disease	mondo	DOID:3502|EFO:0008490|NCIT:C6650|UMLS:C1332243		hepatopancreatic ampulla adenocarcinoma|adenocarcinoma of ampulla of Vater|ampulla of Vater adenocarcinoma|invasive adenocarcinoma of the ampullary region|adenocarcinoma of ampulla of vater|ampullary adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002670	A carcinoma that arises from glandular epithelial cells of the hepatopancreatic ampulla	DOID:3502|NCIT:C6650|UMLS:C1332243
MONDO:0002671	signet ring cell breast carcinoma	biolink:Disease	mondo	UMLS:C1335964|ONCOTREE:BRSRCC|NCIT:C5175|DOID:3503		signet Ring cell carcinoma of breast|signet Ring cell carcinoma of the breast|primary signet Ring cell carcinoma of breast|primary signet Ring cell breast carcinoma|primary signet Ring cell carcinoma of the breast|breast signet ring cell adenocarcinoma|signet Ring cell breast carcinoma|breast carcinoma with signet ring|mammary signet Ring cell carcinoma|primary SRC carcinoma of breast|primary SRC carcinoma of the breast|SRC carcinoma of breast|SRC carcinoma of the breast|signet ring cell carcinoma of breast|SRC breast carcinoma|primary mammary signet Ring cell carcinoma|primary SRC breast carcinoma|breast signet ring cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002671	An invasive breast adenocarcinoma characterized by the presence of malignant epithelial cells with signet ring appearance.	DOID:3503|NCIT:C5175|UMLS:C1335964
MONDO:0002672	acinar prostate adenocarcinoma, signet ring variant	biolink:Disease	mondo	UMLS:C1335520|NCIT:C5535|DOID:3504		prostate signet ring cell carcinoma|prostate signet Ring cell carcinoma|signet Ring cell carcinoma of the prostate|acinar prostate adenocarcinoma, signet Ring variant|prostate gland signet ring cell carcinoma|prostate signet ring cell adenocarcinoma|signet Ring cell carcinoma of prostate	http://purl.obolibrary.org/obo/MONDO_0002672	A morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of signet ring malignant cells.	DOID:3504|NCIT:C5535|UMLS:C1335520
MONDO:0000010	obsolete cerebrooculofacioskeletal syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000010		
MONDO:0014666	hypomyelinating leukodystrophy 11	biolink:Disease	mondo	UMLS:C4225305|DOID:0060792|ICD10:G11.1|OMIM:616494		leukodystrophy, hypomyelinating, 11|leukodystrophy, hypomyelinating, 11; HLD11|POLR1C leukodystrophy|leukodystrophy caused by mutation in POLR1C|hypomyelinating leukodystrophy type 11|HLD11|leukodystrophy, hypomyelinating, type 11	http://purl.obolibrary.org/obo/MONDO_0014666	Any leukodystrophy in which the cause of the disease is a mutation in the POLR1C gene.	UMLS:C4225305|http://identifiers.org/omim/616494|DOID:0060792
MONDO:0012003	autosomal recessive nonsyndromic deafness 39	biolink:Disease	mondo	OMIM:608265|NCIT:C129874|MESH:C564265|DOID:0110497|UMLS:C1842342|ICD10:H90.3	clingen	deafness, autosomal recessive 39|DFNB39|HGF autosomal recessive nonsyndromic deafness|autosomal recessive deafness 39|autosomal recessive nonsyndromic deafness caused by mutation in HGF|deafness, autosomal recessive 39; DFNB39|deafness, autosomal recessive type 39|autosomal recessive nonsyndromic deafness type 39	http://purl.obolibrary.org/obo/MONDO_0012003	An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor receptor. It is characterized by profound deafness.	http://identifiers.org/omim/608265|NCIT:C129874|MESH:C564265|UMLS:C1842342|DOID:0110497
MONDO:0012004	parathyroid gland carcinoma	biolink:Disease	mondo	SCTID:255037004|EFO:1000456|OMIM:608266|DOID:1540|NCIT:C4906|ICD10:C75.0|Orphanet:143|GARD:0007329|ONCOTREE:PTHC|ICD9:194.1	ordo_disease	cancer of the parathyroid gland|carcinoma of the parathyroid|cancer of parathyroid gland|carcinoma of parathyroid|parathyroid gland carcinoma|neoplasm of parathyroid gland|PRTC|parathyroid cancer|parathyroid carcinoma|carcinoma of parathyroid gland|malignant neoplasm of parathyroid gland|parathyroid adenocarcinoma|parathyroid gland cancer|parathyroid neoplasm|parathyroid gland neoplasm|malignant tumor of parathyroid gland|parathyroid cancer, NOS|malignant neoplasm of the parathyroid|adenocarcinoma of the parathyroid gland|adenocarcinoma of parathyroid gland|parathyroid gland adenocarcinoma|adenocarcinoma of the parathyroid|carcinoma of the parathyroid gland|adenocarcinoma of parathyroid	http://purl.obolibrary.org/obo/MONDO_0012004	Parathyroid carcinoma (PRTC) is a very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors.	NCIT:C4906|http://identifiers.org/omim/608266|ORPHA:143|DOID:1540|SNOMEDCT:255037004
MONDO:0014665	Charcot-Marie-Tooth disease axonal type 2V	biolink:Disease	mondo	OMIM:616491|Orphanet:447964|DOID:0110178|ICD10:G60.0|UMLS:C4225306	ordo_disease	hereditary adult-onset painful axonal polyneuropathy|Charcot-Marie-Tooth disease, axonal, type 2V; CMT2V|autosomal dominant axonal Charcot-Marie-Tooth disease type 2V|NAGLU Charcot-Marie-Tooth disease|Charcot-Marie-Tooth neuropathy type 2V|Charcot-Marie-Tooth neuropathy, type 2V|Charcot-Marie-Tooth disease caused by mutation in NAGLU|Charcot-Marie-Tooth disease, axonal, type 2V|CMT2V|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V|autosomal dominant Charcot-Marie-Tooth disease type 2V|autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation	http://purl.obolibrary.org/obo/MONDO_0014665	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene.	UMLS:C4225306|DOID:0110178|ORPHA:447964|http://identifiers.org/omim/616491
MONDO:0014664	Joubert syndrome 23	biolink:Disease	mondo	OMIM:616490|UMLS:C4084822|DOID:0110992		Joubert syndrome type 23|Joubert syndrome caused by mutation in KIAA0586|JBTS23|Joubert syndrome 23|KIAA0586 Joubert syndrome|Joubert syndrome 23; JBTS23	http://purl.obolibrary.org/obo/MONDO_0014664	Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0586 gene.	DOID:0110992|UMLS:C4084822|http://identifiers.org/omim/616490
MONDO:0012001	mandibulofacial dysostosis with ptosis, autosomal dominant	biolink:Disease	mondo	UMLS:C1842349|MESH:C564267|OMIM:608257		mandibulofacial dysostosis with ptosis, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0012001		http://identifiers.org/omim/608257|MESH:C564267|UMLS:C1842349
MONDO:0012002	autosomal recessive nonsyndromic deafness 40	biolink:Disease	mondo	OMIM:608264|UMLS:C1842345|MESH:C564266|DOID:0110499|ICD10:H90.3		autosomal recessive deafness 40|autosomal recessive nonsyndromic deafness type 40|deafness, autosomal recessive 40|DFNB40|deafness, autosomal recessive 40; DFNB40	http://purl.obolibrary.org/obo/MONDO_0012002	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 22q11.21-q12.1.	http://identifiers.org/omim/608264|MESH:C564266|UMLS:C1842345|DOID:0110499
MONDO:0014663	Silver-Russell syndrome 3	biolink:Disease	mondo	OMIM:616489|UMLS:C4225307		GRDF|SRS3|growth restriction, severe, with distinctive facies; GRDF|growth restriction, severe, with distinctive facies	http://purl.obolibrary.org/obo/MONDO_0014663		UMLS:C4225307|http://identifiers.org/omim/616489
HGNC:13444	SLC2A10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13444		
MONDO:0012007	scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities	biolink:Disease	mondo	OMIM:608281|MESH:C564262|UMLS:C1842315		anomalous pulmonary Venous return, multiple Cardiac malformations, and craniofacial and central nervous system abnormalities|scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities	http://purl.obolibrary.org/obo/MONDO_0012007		http://identifiers.org/omim/608281|UMLS:C1842315|MESH:C564262
MONDO:0014669	cone-rod dystrophy 21	biolink:Disease	mondo	UMLS:C4049066|UMLS:CN231743|OMIM:616502		retinal dystrophy with early macular involvement|CORD21|cone-rod dystrophy type 21|cone-rod dystrophy 21; CORD21|DRAM2 cone-rod dystrophy|cone-rod dystrophy 21|cone-rod dystrophy caused by mutation in DRAM2	http://purl.obolibrary.org/obo/MONDO_0014669	Any cone-rod dystrophy in which the cause of the disease is a mutation in the DRAM2 gene.	UMLS:CN231743|UMLS:C4049066|http://identifiers.org/omim/616502
MONDO:0012008	Lelis syndrome	biolink:Disease	mondo	SCTID:719429003|UMLS:C1842307|OMIM:608290|GARD:0010367|MESH:C564261|Orphanet:140936	ordo_malformation_syndrome|gard_rare	Lelis syndrome|ectodermal dysplasia, hypohidrotic, with acanthosis nigricans|ectodermal dysplasia-acanthosis nigricans syndrome	http://purl.obolibrary.org/obo/MONDO_0012008	Lelis syndrome is characterised by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.	SNOMEDCT:719429003|http://identifiers.org/omim/608290|ORPHA:140936|UMLS:C1842307|MESH:C564261
MONDO:0014668	cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4	biolink:Disease	mondo	UMLS:C4225304|OMIM:616501|DOID:0080360		COA6 fatal infantile encephalocardiomyopathy|cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4|fatal infantile encephalocardiomyopathy caused by mutation in COA6|cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4; CEMCOX4|cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 4|CEMCOX4	http://purl.obolibrary.org/obo/MONDO_0014668	Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA6 gene.	DOID:0080360|UMLS:C4225304|http://identifiers.org/omim/616501
MONDO:0012005	growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy	biolink:Disease	mondo	UMLS:C1842321|MESH:C564264|OMIM:608278		growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy|growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy	http://purl.obolibrary.org/obo/MONDO_0012005		http://identifiers.org/omim/608278|UMLS:C1842321|MESH:C564264
HGNC:13446	SLC2A9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13446		
MONDO:0014667	cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3	biolink:Disease	mondo	DOID:0080359|UMLS:C4225154|OMIM:616500		COA5 fatal infantile encephalocardiomyopathy|cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3|fatal infantile encephalocardiomyopathy caused by mutation in COA5|cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3; CEMCOX3|cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 3|CEMCOX3	http://purl.obolibrary.org/obo/MONDO_0014667	Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA5 gene.	DOID:0080359|UMLS:C4225154|http://identifiers.org/omim/616500
MONDO:0012006	craniosynostosis with ocular abnormalities and hallucal defects	biolink:Disease	mondo	UMLS:C1842316|MESH:C564263|OMIM:608279		craniosynostosis with ocular abnormalities and hallucal defects	http://purl.obolibrary.org/obo/MONDO_0012006		http://identifiers.org/omim/608279|UMLS:C1842316|MESH:C564263
MONDO:0000009	inherited bleeding disorder, platelet-type	biolink:Disease	mondo	OMIMPS:231200|UMLS:C0005818|DOID:2218|DC:0000057		platelet disorder|blood platelet disease|bleeding disorder, platelet-type|thrombocytopathy	http://purl.obolibrary.org/obo/MONDO_0000009		UMLS:C0005818|DOID:2218
MONDO:0000008	obsolete bare lymphocyte syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000008		
MONDO:0014662	congenital insensitivity to pain-hypohidrosis syndrome	biolink:Disease	mondo	Orphanet:478664|OMIM:616488|DOID:0070153|UMLS:C4225308	ordo_disease	CIP-hypohidrosis syndrome|hereditary sensory and autonomic neuropathy type 8|HSAN 8|HSAN8|neuropathy, hereditary sensory and autonomic, type VIII|hereditary sensory and autonomic neuropathy type VIII|neuropathy, hereditary sensory and autonomic, type VIII; HSAN8|neuropathy, hereditary sensory and autonomic, type 8	http://purl.obolibrary.org/obo/MONDO_0014662	A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has material basis in homozygous mutation in the PRDM12 gene on chromosome 9q34.	ORPHA:478664|UMLS:C4225308|http://identifiers.org/omim/616488|DOID:0070153
MONDO:0012000	specific phobia	biolink:Disease	mondo	MESH:C562465|OMIM:608251|EFO:1001918|NCIT:C35284|DOID:599|SCTID:54587008|ICD9:300.29|ICD10:F40.2		simple phobia|phobia, simple|phobia, specific	http://purl.obolibrary.org/obo/MONDO_0012000	An anxiety disorder characterized by an intense, irrational fear cued by the presence or anticipation of a specific object or situation. Exposure to the phobic stimulus immediately provokes an anxiety response. In adults, the specific phobia is recognized as excessive or unreasonable.	NCIT:C35284|http://identifiers.org/omim/608251|DOID:599|SNOMEDCT:54587008|MESH:C562465
MONDO:0014661	epidermolysis bullosa simplex with nail dystrophy	biolink:Disease	mondo	OMIM:616487|UMLS:C4225309		EBSND|epidermolysis bullosa simplex with nail dystrophy; EBSND|epidermolysis bullosa simplex with nail dystrophy	http://purl.obolibrary.org/obo/MONDO_0014661		UMLS:C4225309|http://identifiers.org/omim/616487
MONDO:0014660	microcephaly 15, primary, autosomal recessive	biolink:Disease	mondo	DOID:0070277|UMLS:C4225310|OMIM:616486		microcephaly 15, primary, autosomal recessive|microcephaly 15, primary, autosomal recessive; MCPH15|MCPH15	http://purl.obolibrary.org/obo/MONDO_0014660		UMLS:C4225310|http://identifiers.org/omim/616486|DOID:0070277
MONDO:0002688	duodenal obstruction	biolink:Disease	mondo	UMLS:C0013292|DOID:3558|MESH:D004380|EFO:1000908|SCTID:95532008|ICD10:K31.5			http://purl.obolibrary.org/obo/MONDO_0002688	Blockage of the normal flow of stomach contents through the duodenum.	UMLS:C0013292|DOID:3558|SNOMEDCT:95532008|MESH:D004380|NCIT:C79548
MONDO:0000025	obsolete familial cold autoinflammatory syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000025		
MONDO:0002689	obsolete pseudomyxoma peritonei	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002689		
MONDO:0000024	obsolete exostoses, multiple	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000024		
MONDO:0000023	infantile liver failure	biolink:Disease	mondo	DC:0000134|OMIMPS:615438|UMLS:CN228161		infantile liver failure syndrome|liver failure, infantile	http://purl.obolibrary.org/obo/MONDO_0000023		UMLS:CN228161
MONDO:0000022	nocturnal enuresis	biolink:Disease	mondo	DC:0000133|MESH:D053206|NCIT:C118172|COHD:193874		bedwetting|sleep enuresis|enuresis, nocturnal	http://purl.obolibrary.org/obo/MONDO_0000022	Urination during sleep.	MESH:D053206|NCIT:C118172
MONDO:0002684	atypical choroid plexus papilloma	biolink:Disease	mondo	DOID:3544|ICDO:9390/1|ONCOTREE:ACPP|NCIT:C53686|Orphanet:251902|UMLS:C1266176|ICD10:C71.5	ordo_disease	atypical papilloma of choroid plexus|atypical choroid plexus papilloma|ACPP|atypical choroid plexus papilloma (morphologic abnormality)|atypical CPP	http://purl.obolibrary.org/obo/MONDO_0002684	A choroid plexus papilloma characterized by increased mitotic activity.	DOID:3544|ORPHA:251902|NCIT:C53686|UMLS:C1266176
MONDO:0000029	obsolete corticosterone methyloxidase deficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000029		
MONDO:0002685	childhood choroid plexus carcinoma	biolink:Disease	mondo	DOID:3545|UMLS:C0280623|NCIT:C124292		pediatric choroid plexus carcinoma|pediatric choroid plexus carcinoma|childhood choroid plexus neoplasm|childhood choroid plexus carcinoma|choroid plexus carcinoma of childhood|childhood choroid plexus cancer	http://purl.obolibrary.org/obo/MONDO_0002685	A choroid plexus carcinoma that occurs during childhood.	DOID:3545|UMLS:C0280623|NCIT:C124292
MONDO:0000028	obsolete epilepsy, hot water	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000028		
HGNC:25439	TANGO2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25439		
MONDO:0000027	obsolete epilepsy, absence	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000027		
MONDO:0002686	obsolete mast-cell sarcoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002686		
MONDO:0002687	superior mesenteric artery syndrome	biolink:Disease	mondo	DOID:3557|EFO:1001201|UMLS:C0038828|GARD:0007712|MESH:D013478|NCIT:C85175|SCTID:197006009	gard_rare	vascular compression of the duodenum|superior mesenteric artery syndromic disease|Wilkie syndrome|superior mesenteric artery syndrome|Cast syndrome|Arteriomesenteric duodenal compression syndrome|syndromic disease of superior mesenteric artery	http://purl.obolibrary.org/obo/MONDO_0002687	Superior mesenteric artery syndrome (SMAS) is a digestive condition that occurs when the duodenum (the first part of the small intestine) is compressed between two arteries (the aorta and the superior mesenteric artery). This compression causes partial or complete blockage of the duodenum. Symptoms vary based on severity, but can be severely debilitating. Symptoms may include abdominal pain, fullness, nausea, vomiting, and/or weight loss. SMAS typically is due toloss of the mesenteric fat pad (fatty tissue that surrounds the superior mesenteric artery). The most common cause is significant weight loss caused by medical disorders, psychological disorders, or surgery. In younger patients, it most commonly occurs after corrective spinal surgery for scoliosis. Delays in diagnosis may result in significant complications. Depending on the cause and severity, treatment options may include addressing the underlying cause, dietary changes (small feedings or a liquid diet), and/or surgery. Symptoms may not resolve completely after treatment.	MESH:D013478|UMLS:C0038828|DOID:3557|NCIT:C85175|SNOMEDCT:197006009
MONDO:0000026	obsolete Fanconi renotubular syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000026		
MONDO:0002680	chronic wasting disease	biolink:Disease	mondo	DOID:3530|MESH:D034081|UMLS:C1135993			http://purl.obolibrary.org/obo/MONDO_0002680	A transmissible spongiform encephalopathy (prion disease) of deer and elk characterized by chronic weight loss leading to death. It is thought to spread by direct contact between animals or through environmental contamination with the prion protein (prions).	DOID:3530|MESH:D034081|UMLS:C1135993
MONDO:0002681	choroid plexus cancer	biolink:Disease	mondo	DOID:3540|NCIT:C4533		choroid plexus neoplasm|malignant choroid plexus tumors|malignant choroid plexus neoplasms|cancer of choroid plexus|malignant tumor of choroid plexus|malignant tumor of the choroid plexus|choroid plexus cancer|malignant neoplasm of choroid plexus|malignant choroid plexus neoplasm|tumor of the choroid plexus|malignant choroid plexus tumor|malignant neoplasm of the choroid plexus|tumor of choroid plexus	http://purl.obolibrary.org/obo/MONDO_0002681	A malignant neoplasm involving the choroid plexus	DOID:3540|NCIT:C4533
MONDO:0002682	cerebral ventricle cancer	biolink:Disease	mondo	NCIT:C2937|DOID:3541|SCTID:126958000|EFO:0007201|GARD:0006025|ICD9:191.5|MESH:D002551|ICD10:C71.5	gard_rare	intraventricular brain neoplasms|intraventricular brain neoplasm|brain ventricle cancer|malignant neoplasm of brain ventricle|intraventricular tumor of the brain|intraventricular neoplasms|malignant brain ventricle neoplasm|cerebral ventricle neoplasm|intraventricular tumor of brain|intraventricular neoplasm of the brain|cancer of brain ventricle|brain neoplasms, intraventricular|intraventricular neoplasm of brain|intraventricular brain tumor	http://purl.obolibrary.org/obo/MONDO_0002682	A neoplasm that involves a brain ventricle. It may be a primary neoplasm arising from a brain ventricle, a metastasis from a distant anatomic site, or an extension of an invasive neoplasm from an adjacent brain structure.	DOID:3541|SNOMEDCT:126958000|MESH:D002551|NCIT:C2937
MONDO:0014649	intellectual disability, autosomal recessive 50	biolink:Disease	mondo	OMIM:616460		intellectual disability, autosomal recessive 50|MRT50|EDC3 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive 50; MRT50|autosomal recessive non-syndromic intellectual disability caused by mutation in EDC3|intellectual disability, autosomal recessive 50; MRT50|mental retardation, autosomal recessive type 50|intellectual disability, autosomal recessive type 50|mental retardation, autosomal recessive 50	http://purl.obolibrary.org/obo/MONDO_0014649	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the EDC3 gene.	http://identifiers.org/omim/616460
MONDO:0002683	adult choroid plexus neoplasm	biolink:Disease	mondo	DOID:3542|UMLS:C0796430|NCIT:C8568		adult choroid plexus neoplasm|neoplasm of adult choroid plexus|choroid plexus neoplasm of adults|adult choroid plexus cancer|adult choroid plexus tumor|neoplasm of the adult choroid plexus|choroid plexus neoplasm|tumor of adult choroid plexus|tumor of the adult choroid plexus	http://purl.obolibrary.org/obo/MONDO_0002683	A choroid plexus neoplasm that occurs in an adult.	NCIT:C8568|DOID:3542|UMLS:C0796430
MONDO:0000021	obsolete short-rib thoracic dysplasia	biolink:Disease	mondo	DC:0000131			http://purl.obolibrary.org/obo/MONDO_0000021		
MONDO:0000020	obsolete elliptocytosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000020		
MONDO:0014655	Bethlem myopathy 2	biolink:Disease	mondo	OMIM:616471|UMLS:C4225313		Bethlem myopathy type 2|EDS, myopathic type|COL12A1 Bethlem myopathy|Ehlers-Danlos syndrome, myopathic type|Bethlem myopathy caused by mutation in COL12A1|Bethlem myopathy 2; BTHLM2|BTHLM2|Bethlem myopathy 2	http://purl.obolibrary.org/obo/MONDO_0014655	Any Bethlem myopathy in which the cause of the disease is a mutation in the COL12A1 gene.	UMLS:C4225313|http://identifiers.org/omim/616471
MONDO:0014654	Ullrich congenital muscular dystrophy 2	biolink:Disease	mondo	OMIM:616470|UMLS:C4225314		Ullrich congenital muscular dystrophy caused by mutation in COL12A1|Ullrich congenital muscular dystrophy 2|Ullrich congenital muscular dystrophy 2; UCMD2|Ullrich congenital muscular dystrophy type 2|UCMD2|COL12A1 Ullrich congenital muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0014654	Any Ullrich congenital muscular dystrophy in which the cause of the disease is a mutation in the COL12A1 gene.	UMLS:C4225314|http://identifiers.org/omim/616470
MONDO:0014653	retinitis pigmentosa 72	biolink:Disease	mondo	DOID:0110395|UMLS:C4225315|ICD10:H35.5|OMIM:616469		RP72|retinitis pigmentosa 72|retinitis pigmentosa caused by mutation in ZNF408|retinitis pigmentosa type 72|retinitis pigmentosa 72; RP72|ZNF408 retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0014653	Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF408 gene.	UMLS:C4225315|DOID:0110395|http://identifiers.org/omim/616469
MONDO:0014652	exudative vitreoretinopathy 6	biolink:Disease	mondo	UMLS:C4225316|OMIM:616468|DOID:0111410		exudative vitreoretinopathy 6|exudative vitreoretinopathy type 6|exudative vitreoretinopathy caused by mutation in ZNF408|exudative vitreoretinopathy 6; EVR6|EVR6|ZNF408 exudative vitreoretinopathy	http://purl.obolibrary.org/obo/MONDO_0014652	Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the ZNF408 gene.	UMLS:C4225316|DOID:0111410|http://identifiers.org/omim/616468
MONDO:0014659	fever-associated acute infantile liver failure syndrome	biolink:Disease	mondo	Orphanet:464724|GARD:0013113|OMIM:616483|UMLS:CN232144	ordo_disease	infantile liver failure syndrome 2; ILFS2|infantile liver failure syndrome 2|infantile liver failure caused by mutation in NBAS|infantile liver failure syndrome type 2|ILFS2|NBAS infantile liver failure	http://purl.obolibrary.org/obo/MONDO_0014659	Any infantile liver failure in which the cause of the disease is a mutation in the NBAS gene.	UMLS:CN232144|ORPHA:464724|http://identifiers.org/omim/616483
MONDO:0014658	severe achondroplasia-developmental delay-acanthosis nigricans syndrome	biolink:Disease	mondo	Orphanet:85165|GARD:0009443|SCTID:699870002|OMIM:616482|ICD9:757.39|ICD9:783.40|PMID:10053006|url:https://ghr.nlm.nih.gov/condition/saddan|DOID:0111158|ICD10:Q77.4	ordo_disease	achondroplasia, severe, with developmental delay and acanthosis nigricans; SADDAN|severe achondroplasia with developmental delay and acanthosis nigricans|SADDAN|achondroplasia, severe, with developmental delay and acanthosis nigricans|SADDAN dysplasia	http://purl.obolibrary.org/obo/MONDO_0014658	Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).	ORPHA:85165|UMLS:C2674173|DOID:0111158|http://identifiers.org/omim/616482|SNOMEDCT:699870002
MONDO:0014657	primary ciliary dyskinesia 32	biolink:Disease	mondo	DOID:0110603|UMLS:C4225311|ICD10:Q34.8|OMIM:616481		ciliary dyskinesia, primary, 32, without situs inversus|RSPH3 primary ciliary dyskinesia|ciliary dyskinesia, primary, 32; CILD32|ciliary dyskinesia, primary, type 32|primary ciliary dyskinesia caused by mutation in RSPH3|primary ciliary dyskinesia 32 without situs inversus|ciliary dyskinesia, primary, 32|primary ciliary dyskinesia type 32|CILD32	http://purl.obolibrary.org/obo/MONDO_0014657	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH3 gene.	UMLS:C4225311|DOID:0110603|http://identifiers.org/omim/616481
MONDO:0014656	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	biolink:Disease	mondo	UMLS:C4225312|DOID:0111515|OMIM:616479		progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 2|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2; PEOB2|PEOB2|RNASEH1 progressive external ophthalmoplegia with mitochondrial DNA deletions|progressive external ophthalmoplegia, autosomal recessive 2|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2|progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RNASEH1	http://purl.obolibrary.org/obo/MONDO_0014656	Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RNASEH1 gene.	UMLS:C4225312|DOID:0111515|http://identifiers.org/omim/616479
MONDO:0000019	obsolete ectodermal dysplasia	biolink:Disease	mondo	DC:0000128			http://purl.obolibrary.org/obo/MONDO_0000019		
MONDO:0014651	acrofacial dysostosis Cincinnati type	biolink:Disease	mondo	DOID:0060353|OMIM:616462|UMLS:C4225317		acrofacial dysostosis, Cincinnati type|acrofacial dysostosis caused by mutation in POLR1A|AFDCIN|acrofacial dysostosis, Cincinnati type; AFDCIN|POLR1A acrofacial dysostosis	http://purl.obolibrary.org/obo/MONDO_0014651	Any acrofacial dysostosis in which the cause of the disease is a mutation in the POLR1A gene.	UMLS:C4225317|DOID:0060353|http://identifiers.org/omim/616462
MONDO:0014650	familial temporal lobe epilepsy 8	biolink:Disease	mondo	DOID:0060754|OMIM:616461|UMLS:C4225318		familial temporal lobe epilepsy type 8|epilepsy, familial temporal lobe, 8; ETL8|ETL8|epilepsy, familial temporal lobe, 8|epilepsy, familial temporal lobe, type 8	http://purl.obolibrary.org/obo/MONDO_0014650	A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has material basis in heterozygous mutation in the GAL gene on chromosome 11q13.	UMLS:C4225318|http://identifiers.org/omim/616461|DOID:0060754
ENVO:01001569	Western Australian Mulga Shrublands Ecoregion	biolink:OntologyClass	mondo			Western Australia Ecoregion	http://purl.obolibrary.org/obo/ENVO_01001569		
MONDO:0000079	nephrolithiasis/osteoporosis, hypophosphatemic	biolink:Disease	mondo	OMIMPS:612286|DOID:0080655|DC:0000341			http://purl.obolibrary.org/obo/MONDO_0000079		DOID:0080655
HGNC:25403	SASS6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25403		
MONDO:0000078	acrocephalopolysyndactyly	biolink:Disease	mondo	DC:0000331|SCTID:205260006|UMLS:C0687154		ACPS	http://purl.obolibrary.org/obo/MONDO_0000078	A common presentation of craniosynostosis and polysyndactyly.	SNOMEDCT:205260006|UMLS:C0687154
MONDO:0000077	obsolete nystagmus (disease)	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000077		
UBERON:0035480	surface of prostate	biolink:AnatomicalEntity	mondo			surface of prostate gland|prostatic surface	http://purl.obolibrary.org/obo/UBERON_0035480	The external portion of the prostate including the anterior, inferolateral, lateral and posterior surfaces.	
UBERON:0035483	left suprarenal vein	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0035483	A vein that drains blood from the left adrenal gland into the left renal artery.	
MONDO:0000072	obsolete myopathy, reducing body, X-linked	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000072		
MONDO:0000071	obsolete myopathy, myofibrillar	biolink:Disease	mondo	DC:0000305			http://purl.obolibrary.org/obo/MONDO_0000071		
MONDO:0000070	mycobacterium tuberculosis, susceptibility	biolink:Disease	mondo	DC:0000298	predisposition		http://purl.obolibrary.org/obo/MONDO_0000070		
UBERON:0035489	branch of basilar artery	biolink:AnatomicalEntity	mondo			basilar arterial branch	http://purl.obolibrary.org/obo/UBERON_0035489		
MONDO:0000076	obsolete neuropathy, hereditary sensory and autonomic	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000076		
MONDO:0000075	neuronopathy, distal hereditary motor	biolink:Disease	mondo	DC:0000322			http://purl.obolibrary.org/obo/MONDO_0000075		
MONDO:0000074	obsolete neurodegeneration with brain iron accumulation	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000074		
MONDO:0000073	obsolete nail disorder, nonsyndromic congenital	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000073		
MONDO:0012069	KTCN3	biolink:Disease	mondo	OMIM:608586|MESH:C563900|UMLS:C1837809		keratoconus 3; KTCN3|keratoconus 3|KTCN3	http://purl.obolibrary.org/obo/MONDO_0012069		UMLS:C1837809|MESH:C563900|http://identifiers.org/omim/608586
MONDO:0012067	asthma-related traits, susceptibility to, 2	biolink:Disease	mondo	OMIM:608584|UMLS:C1837811	predisposition	asthma-related traits, susceptibility to, type 2|inherited susceptibility to asthma caused by mutation in NPSR1|asthma-related traits, susceptibility to, 2|ASRT2|NPSR1 inherited susceptibility to asthma	http://purl.obolibrary.org/obo/MONDO_0012067	Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the NPSR1 gene.	UMLS:C1837811|http://identifiers.org/omim/608584
MONDO:0012068	brachial palsy, familial congenital	biolink:Disease	mondo	MESH:C563901|OMIM:608585|UMLS:C1837810		brachial palsy, familial congenital	http://purl.obolibrary.org/obo/MONDO_0012068		UMLS:C1837810|MESH:C563901|http://identifiers.org/omim/608585
HGNC:13429	RLIM	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13429		
MONDO:0012061	familial sick sinus syndrome	biolink:Disease	mondo	Orphanet:166282|MedDRA:10040639|MESH:C563907|ICD10:I49.5|SCTID:233913007	ordo_disease	familial sinus node dysfunction|hereditary sick sinus syndrome|sick sinus syndrome 1, autosomal recessive|SSS1	http://purl.obolibrary.org/obo/MONDO_0012061	Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients.	ORPHA:166282|MEDDRA:10040639|UMLS:C0037052|SNOMEDCT:233913007|MESH:C563907
MONDO:0012062	dilated cardiomyopathy 1O	biolink:Disease	mondo	OMIM:608569|DOID:0110451|ICD10:I42.0|UMLS:C1837839|MESH:C563906		cardiomyopathy, dilated, type 1O|ABCC9 familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, 1O|familial isolated dilated cardiomyopathy caused by mutation in ABCC9|CMD1O|cardiomyopathy, dilated, with ventricular tachycardia|cardiomyopathy, dilated, 1O; CMD1O|dilated cardiomyopathy with ventricular tachycardia|dilated cardiomyopathy type 1O	http://purl.obolibrary.org/obo/MONDO_0012062	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene.	MESH:C563906|http://identifiers.org/omim/608569|DOID:0110451|UMLS:C1837839
MONDO:0012060	autosomal recessive nonsyndromic deafness 35	biolink:Disease	mondo	DOID:0110493|OMIM:608565|MESH:C563908|UMLS:C1837857|ICD10:H90.3		autosomal recessive nonsyndromic deafness caused by mutation in ESRRB|deafness, autosomal recessive type 35|deafness, autosomal recessive 35; DFNB35|autosomal recessive nonsyndromic deafness type 35|autosomal recessive deafness 35|DFNB35|deafness, autosomal recessive 35|ESRRB autosomal recessive nonsyndromic deafness	http://purl.obolibrary.org/obo/MONDO_0012060	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESRRB gene.	http://identifiers.org/omim/608565|DOID:0110493|UMLS:C1837857|MESH:C563908
MONDO:0012065	obsolete Stevens-Johnson syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0012065		
MONDO:0012066	ATFB1	biolink:Disease	mondo	OMIM:608583|MESH:C538261|UMLS:C1843687		ATFB1|atrial fibrillation, familial, 1; ATFB1|atrial fibrillation, familial, 1|atrial fibrillation, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0012066		MESH:C538261|http://identifiers.org/omim/608583|UMLS:C1843687
MONDO:0012063	ulnar/fibula ray defect-brachydactyly syndrome	biolink:Disease	mondo	SCTID:719843001|OMIM:608571|Orphanet:52056|ICD10:Q73.8|MESH:C563905	ordo_malformation_syndrome	ulnar/fibular RAY defect and brachydactyly|Morava-Mehes syndrome	http://purl.obolibrary.org/obo/MONDO_0012063	Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.	MESH:C563905|SNOMEDCT:719843001|http://identifiers.org/omim/608571|ORPHA:52056
MONDO:0012064	choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome	biolink:Disease	mondo	GARD:0010041|OMIM:608572|Orphanet:1200|UMLS:C1835913|ICD10:Q87.8|MESH:C563682	gard_rare|ordo_malformation_syndrome	choanal atresia deafness cardiac defects dysmorphism|Burn-McKeown syndrome|Burn-McKeown syndrome|Burn-McKeown syndrome; BMKS|BMKS|oculootofacial dysplasia|bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance	http://purl.obolibrary.org/obo/MONDO_0012064	Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome.	MESH:C563682|UMLS:C1835913|ORPHA:1200|http://identifiers.org/omim/608572|MESH:C537411|UMLS:C1837822
ECTO:9001334	primary alcohol exposure	biolink:OntologyClass	mondo			exposure to primary alcohol	http://purl.obolibrary.org/obo/ECTO_9001334	An exposure to primary alcohol.	
HGNC:25415	PPM1K	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25415		
MONDO:0000089	obsolete age-related hearing impairment	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000089		
MONDO:0000088	precocious puberty	biolink:Disease	mondo	Orphanet:95708|MedDRA:10058084|NCIT:C79704|ICD9:259.1|MedDRA:10044701|UMLS:C0034013|DC:0000367|ICD10:E30.1|COHD:4267558|MESH:D011629|SCTID:400179000|ICD10:E22.8|HP:0000826|GARD:0007446	ordo_group_of_disorders|gard_rare	idiopathic sexual precocity|sexual precocity|familial precocious puberty|pubertas praecox	http://purl.obolibrary.org/obo/MONDO_0000088	Unusually early sexual maturity.	ORPHA:95708|MEDDRA:10044701|NCIT:C79704|MEDDRA:10058084|MESH:D011629|UMLS:C0034013|SNOMEDCT:400179000
ENVO:01001554	surface layer of a water body	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001554	A water surface that is part of a water body.	
HGNC:25419	ARL13B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25419		
MONDO:0000083	obsolete Griscelli syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000083		
UBERON:0035495	hilum of lymph node	biolink:AnatomicalEntity	mondo			hilum nodi lymphoidei|lymph node hilum	http://purl.obolibrary.org/obo/UBERON_0035495	The concave side of the lymph node.	
MONDO:0000082	pelvic organ prolapse	biolink:Disease	mondo	DC:0000354|EFO:0004710|SCTID:237113009|UMLS:C0877015|MESH:D056887			http://purl.obolibrary.org/obo/MONDO_0000082	Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, dyspareunia; urinary stress incontinence; and fecal incontinence.	MESH:D056887|UMLS:C0877015|SNOMEDCT:237113009
MONDO:0000081	obsolete ovarian dysgenesis	biolink:Disease	mondo	DC:0000345			http://purl.obolibrary.org/obo/MONDO_0000081		
UBERON:0035498	gastrophrenic ligament	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0035498	the portion of the greater omentum that extends from the greater curvature of the stomach to the inferior surface of the diaphragm	
MONDO:0000080	obsolete Oto-palato-digital syndrome	biolink:Disease	mondo	DC:0000342			http://purl.obolibrary.org/obo/MONDO_0000080		
MONDO:0000087	polymicrogyria	biolink:Disease	mondo	NCIT:C116936|ICD10:Q04.3|GARD:0012271|Orphanet:35981|UMLS:C0266464|DC:0000363|MESH:D065706|SCTID:4945003	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0000087	A developmental brain abnormality characterized by an excessive amount of small convolutions on the surface of the brain and cognitive dysfunction.	SNOMEDCT:4945003|ORPHA:35981|UMLS:C0266464|NCIT:C116936|MESH:D065706
MONDO:0000086	obsolete polydactyly, preaxial	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000086		
MONDO:0000085	obsolete pituitary hormone deficiency, combined	biolink:Disease	mondo	DC:0000358			http://purl.obolibrary.org/obo/MONDO_0000085		
MONDO:0000084	obsolete pigmented nodular adrenocortical disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000084		
MONDO:0012058	myocardial infarction, susceptibility to, 2	biolink:Disease	mondo	OMIM:608557|UMLS:C1837871	predisposition	myocardial infarction, susceptibility to, type 2|Mci2|myocardial infarction, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0012058		UMLS:C1837871|http://identifiers.org/omim/608557
MONDO:0012059	polydactyly, postaxial, type A4	biolink:Disease	mondo	OMIM:608562|UMLS:C1837868|MESH:C563909		postaxial polydactyly, type A4|Papa4|polydactyly, postaxial, type A4	http://purl.obolibrary.org/obo/MONDO_0012059		UMLS:C1837868|MESH:C563909|http://identifiers.org/omim/608562
ECTO:9001347	sodium chloride exposure	biolink:OntologyClass	mondo			exposure to sodium chloride	http://purl.obolibrary.org/obo/ECTO_9001347	An exposure to sodium chloride.	
MONDO:0012056	Leber congenital amaurosis 9	biolink:Disease	mondo	DOID:0110005|OMIM:608553|MESH:C536603|ICD10:H35.5|GARD:0009491	gard_rare	NMNAT1 Leber congenital amaurosis|Leber congenital amaurosis 9; LCA9|LCA9|Leber congenital amaurosis type 9|Leber congenital amaurosis caused by mutation in NMNAT1|Leber congenital amaurosis 9|amaurosis congenita of Leber, type 9	http://purl.obolibrary.org/obo/MONDO_0012056	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the NMNAT1 gene.	http://identifiers.org/omim/608553|MESH:C536603|DOID:0110005
MONDO:0012057	legionnaire disease, susceptibility to	biolink:Disease	mondo	GARD:0006876|OMIM:608556	predisposition	susceptibility to legionnaire disease|legionnaire disease, susceptibility to|Legionella infection|legionnaire's disease	http://purl.obolibrary.org/obo/MONDO_0012057		http://identifiers.org/omim/608556
HGNC:13433	ROBO3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13433		
HGNC:13436	RPGRIP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13436		
MONDO:0012050	major depressive disorder 1	biolink:Disease	mondo	OMIM:608520|UMLS:C1837929|MESH:C563919		major depressive disorder 1|unipolar depression 1|MDD1|major depressive disorder type 1	http://purl.obolibrary.org/obo/MONDO_0012050		UMLS:C1837929|MESH:C563919|http://identifiers.org/omim/608520
MONDO:0012051	periodontitis, aggressive, 2	biolink:Disease	mondo	MESH:C566946|UMLS:C1969478|OMIM:608526		periodontitis, aggressive, type 2|periodontitis, aggressive, 2	http://purl.obolibrary.org/obo/MONDO_0012051		http://identifiers.org/omim/608526|MESH:C566946|UMLS:C1969478
MONDO:0012054	schizophrenia 12	biolink:Disease	mondo	OMIM:608543|UMLS:C1837893|DOID:0070088		schizophrenia susceptibility locus, chromosome 1P-related|Sczd12|SCZD12|schizophrenia type 12|schizophrenia 12	http://purl.obolibrary.org/obo/MONDO_0012054	A schizophrenia that has material basis in a mutation on chromosome 1p36.2.	UMLS:C1837893|DOID:0070088|http://identifiers.org/omim/608543
MONDO:0012055	Larsen-like osseous dysplasia-short stature syndrome	biolink:Disease	mondo	MESH:C563914|Orphanet:2370|UMLS:C1837884|ICD10:Q74.8|OMIM:608545	ordo_malformation_syndrome	Lrsl|Larsen-like syndrome	http://purl.obolibrary.org/obo/MONDO_0012055	Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia.	UMLS:C1837884|MESH:C563914|ORPHA:2370|http://identifiers.org/omim/608545
MONDO:0012052	ALG1-CDG	biolink:Disease	mondo	OMIM:608540|SCTID:720941007|MESH:C535749|ICD10:E77.8|Orphanet:79327|UMLS:C2931005|DOID:0080563|GARD:0009838	ordo_disease	CDG 1K|mannosyltransferase 1 deficiency|congenital disorder of glycosylation type 1k|carbohydrate deficient glycoprotein syndrome type Ik|CDG-Ik|CDG1K|congenital disorder of glycosylation, type Ik|congenital disorder of glycosylation, type Ik; CDG1K|CDG syndrome type Ik|ALG1-CDG (CDG-Ik)|congenital disorder of glycosylation type Ik|CDG Ik	http://purl.obolibrary.org/obo/MONDO_0012052	(16p13.3).	UMLS:C2931005|SNOMEDCT:720941007|http://identifiers.org/omim/608540|DOID:0080563|ORPHA:79327|MESH:C535749
MONDO:0012053	ANIB2	biolink:Disease	mondo	UMLS:C1837894|OMIM:608542|MESH:C536360|GARD:0010033		aneurysm, intracranial BERRY, 2; ANIB2|aneurysm, intracranial BERRY, 2|ANIB2	http://purl.obolibrary.org/obo/MONDO_0012053		UMLS:C1837894|http://identifiers.org/omim/608542|MESH:C536360
MONDO:0000058	obsolete melanoma, cutaneous malignant	biolink:Disease	mondo	DC:0000271			http://purl.obolibrary.org/obo/MONDO_0000058		
MONDO:0000057	obsolete medullary cystic kidney disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000057		
MONDO:0000056	obsolete mandibuloacral dysplasia with lipodystrophy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000056		
MONDO:0000055	obsolete major affective disorder	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000055		
ENVO:01001587	Somali Montane Xeric Woodland Ecoregion	biolink:OntologyClass	mondo			Somali montane xeric woodlands ecoregion	http://purl.obolibrary.org/obo/ENVO_01001587		
ENVO:01001586	Yemen, Saudi Arabia, and Oman Ecoregion	biolink:OntologyClass	mondo			Arabian Peninsula: Yemen, Saudi Arabia, and Oman	http://purl.obolibrary.org/obo/ENVO_01001586		
ENVO:01001589	Red Sea Coastal Desert Ecoregion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001589		
ENVO:01001588	Socotran Archipelago Ecoregion	biolink:OntologyClass	mondo			Islands east of the Horn of Africa and south of Yemen Ecoregion	http://purl.obolibrary.org/obo/ENVO_01001588		
MONDO:0000059	obsolete methylmalonic aciduria and homocystinuria	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000059		
MONDO:0000050	isolated congenital growth hormone deficiency	biolink:Disease	mondo	MedDRA:10035083|SCTID:2109003|ICD10:E23.0|DC:0000229|OMIMPS:262400|GARD:0012556|Orphanet:631|DOID:0060870	ordo_disease	congenital isolated GH deficiency|isolated growth hormone deficiency|familial isolated growth hormone deficiency|IGHD|ICGHD|non-acquired isolated growth hormone deficiency|congenital IGHD|congenital isolated growth hormone deficiency	http://purl.obolibrary.org/obo/MONDO_0000050		DOID:0060870|SNOMEDCT:2109003|MEDDRA:10035083|UMLS:C0013338|ORPHA:631
MONDO:0000054	obsolete macular dystrophy (disease)	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000054		
MONDO:0000053	obsolete macroglobulinemia, Waldenstrom	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000053		
MONDO:0000052	obsolete leukodystrophy, hypomyelinating	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000052		
MONDO:0000051	obsolete keratoderma, palmoplantar striate	biolink:Disease	mondo	DC:0000234			http://purl.obolibrary.org/obo/MONDO_0000051		
MONDO:0012047	alopecia universalis congenita, 10Y gonadal dysgenesis, and laryngomalacia	biolink:Disease	mondo	UMLS:C1837946|MESH:C563920|OMIM:608509		alopecia universalis congenita, XY gonadal dysgenesis, and laryngomalacia	http://purl.obolibrary.org/obo/MONDO_0012047		UMLS:C1837946|MESH:C563920|http://identifiers.org/omim/608509
MONDO:0012048	endogenous depression	biolink:Disease	mondo	DOID:1595|SCTID:300706003|NCIT:C34532|OMIM:608516		MAJOR depressive disorder; MDD|unipolar depression|clinical depression|MAJOR depressive disorder|MDD	http://purl.obolibrary.org/obo/MONDO_0012048	Depression which is considered strictly biological.	SNOMEDCT:300706003|DOID:1595|http://identifiers.org/omim/608516|NCIT:C34532
MONDO:0012045	MYP5	biolink:Disease	mondo	UMLS:C1837972|MESH:C563922|OMIM:608474		myopia 5, autosomal dominant|myopia 5, autosomal dominant; MYP5|MYP5	http://purl.obolibrary.org/obo/MONDO_0012045		UMLS:C1837972|MESH:C563922|http://identifiers.org/omim/608474
HGNC:13406	PCLO	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13406		
MONDO:0012046	congenital corneal opacities, cornea guttata, and corectopia	biolink:Disease	mondo	UMLS:C1837970|MESH:C563921|OMIM:608484		congenital corneal opacities, cornea guttata, and corectopia|corneal opacities, congenital, with cornea guttata and corectopia	http://purl.obolibrary.org/obo/MONDO_0012046		UMLS:C1837970|MESH:C563921|http://identifiers.org/omim/608484
MONDO:0012049	orofaciodigital syndrome VII	biolink:Disease	mondo	DOID:0060377|MESH:C563104|Orphanet:90649|UMLS:C0796100|OMIM:608518|UMLS:CN206429		orofaciodigital syndrome type VII|orofaciodigital syndrome 7|orofaciodigital syndrome VII; OFD7|oral-Facial-digital syndrome, type 7|orofaciodigital syndrome VII|Whelan syndrome|orofaciodigital syndrome type 7|Ofds 7|OFD7	http://purl.obolibrary.org/obo/MONDO_0012049		MESH:C563104|DOID:0060377|UMLS:CN206429|UMLS:C0796100|http://identifiers.org/omim/608518|ORPHA:90649
GO:0048209	regulation of vesicle targeting, to, from or within Golgi	biolink:OntologyClass	mondo			regulation of Golgi vesicle targeting	http://purl.obolibrary.org/obo/GO_0048209	Any process that modulates the frequency, rate, or destination of vesicle-mediated transport to, from or within the Golgi apparatus.	
ENVO:01001583	Afrotropical Ecoregion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001583		
MONDO:0012040	inflammatory bowel disease 9	biolink:Disease	mondo	DOID:0110886|MESH:C563926|UMLS:C1838019|OMIM:608448		inflammatory bowel disease type 9|inflammatory bowel disease 9; IBD9|IBD9|inflammatory bowel disease 9	http://purl.obolibrary.org/obo/MONDO_0012040	An inflammatory bowel disease that has material basis in variation in the chromosome region 3p26.	DOID:0110886|MESH:C563926|http://identifiers.org/omim/608448|UMLS:C1838019
ENVO:01001585	Yemen and Saudi Arabia Ecoregion	biolink:OntologyClass	mondo			Arabian Peninsula: Yemen and Saudi Arabia	http://purl.obolibrary.org/obo/ENVO_01001585		
ENVO:01001584	Succulent Karoo Ecoregion	biolink:OntologyClass	mondo			Southern Africa: Southern Namibia into South Africa	http://purl.obolibrary.org/obo/ENVO_01001584		
MONDO:0012043	Reis-Bucklers corneal dystrophy	biolink:Disease	mondo	SCTID:231930000|ICD10:H18.5|Orphanet:98961|UMLS:C0339278|OMIM:608470|GARD:0009276|ICD9:371.52|MESH:C535476|DOID:0060453	ordo_disease	Reis-Bücklers corneal dystrophy|granular corneal dystrophy, type 3|corneal dystrophy of Bowman layer type 1|corneal dystrophy, REIS-Bucklers type; CDRB|granular corneal dystrophy type III|geographic corneal dystrophy|Reis Bucklers dystrophy|CDRB|anterior limiting membrane dystrophy type 1|superficial granular corneal dystrophy|granular corneal dystrophy type 3|corneal dystrophy, geographic|atypical granular corneal dystrophy|RBCD|Reis-Bucklers corneal dystrophy|corneal dystrophy of Bowman Layer, type 1|corneal dystrophy geographic|Reis Bucklers corneal dystrophy|corneal dystrophy of Bowman layer type I|corneal dystrophy, REIS-Bucklers type|corneal dystrophy Reis Bucklers type|CDB1|anterior limiting membrane dystrophy type I	http://purl.obolibrary.org/obo/MONDO_0012043	Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment.	MESH:C535476|DOID:0060453|http://identifiers.org/omim/608470|UMLS:C0339278|ORPHA:98961|SNOMEDCT:231930000
MONDO:0012044	corneal dystrophy, lattice type 3A	biolink:Disease	mondo	MESH:C563923|OMIM:608471|UMLS:C1837974|GARD:0010320	gard_rare	lattice corneal dystrophy type 3A|lattice corneal dystrophy, type 3A|corneal dystrophy, lattice type IIIA|CDL3A|lattice corneal dystrophy type III A|corneal dystrophy, lattice type IIIA; CDL3A	http://purl.obolibrary.org/obo/MONDO_0012044	Lattice corneal dystrophy type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and sensitivity to bright light. Lattice corneal dystrophy type 3A is caused by changes (mutations) in the TGFBI gene and is inherited in an autosomal dominant manner. The condition is usually treated surgically.	UMLS:C1837974|MESH:C563923|http://identifiers.org/omim/608471
MONDO:0012041	MUTYH-related attenuated familial adenomatous polyposis	biolink:Disease	mondo	GARD:0010805|MESH:C563924|NCIT:C96520|UMLS:C1837991|ICD10:D12.6|Orphanet:247798|OMIM:608456	ordo_clinical_subtype|gard_rare|clingen	adenomas, multiple colorectal, autosomal recessive|autosomal recessive multiple colorectal adenomas|colorectal adenomatous polyposis, autosomal recessive|MUTYH-related attenuated familial polyposis coli|MUTYH-related AFAP|familial adenomatous polyposis, type 2|MUTYH-related attenuated FAP|MYH-associated polyposis|familial adenomatous polyposis, 2|MAP|familial adenomatous polyposis 2; FAP2|MAP syndrome|familial adenomatous polyposis 2|MUTYH-associated polyposis|autosomal recessive familial adenomatous polyposis|familial adenomatous polyposis, 2; FAP2|FAP2	http://purl.obolibrary.org/obo/MONDO_0012041	An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1. It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma. Development of gastric and small intestinal polyps may also occur.	UMLS:C1837991|MESH:C563924|ORPHA:247798|NCIT:C96520|http://identifiers.org/omim/608456
ENVO:01001581	sea surface layer	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001581	A surface layer of a water body which is part of an ocean or sea.	
MONDO:0012042	HSCR8	biolink:Disease	mondo	OMIM:608462	predisposition	Hirschsprung disease, susceptibility to, 8; HSCR8|Hirschsprung disease, susceptibility to, 8|HSCR8	http://purl.obolibrary.org/obo/MONDO_0012042		http://identifiers.org/omim/608462
ENVO:01001580	Nullarbor Plains Xeric Shrubland Ecoregion	biolink:OntologyClass	mondo			Southern Australia Ecoregion	http://purl.obolibrary.org/obo/ENVO_01001580		
MONDO:0000069	obsolete multiple endocrine neoplasia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000069		
ENVO:01001579	Great Victoria Desert Ecoregion	biolink:OntologyClass	mondo			Southern Australia Ecoregion	http://purl.obolibrary.org/obo/ENVO_01001579		
MONDO:0000068	obsolete mucolipidosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000068		
MONDO:0000067	obsolete mitochondrial DNA depletion syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000067		
MONDO:0000066	mitochondrial complex deficiency	biolink:Disease	mondo	DC:0000283			http://purl.obolibrary.org/obo/MONDO_0000066		
CHEBI:63161	glycosyl compound	biolink:ChemicalSubstance	mondo			glycosyl compounds	http://purl.obolibrary.org/obo/CHEBI_63161	A carbohydrate derivative arising formally from the elimination of water from a glycosidic hydroxy group and an H atom bound to an oxygen, carbon, nitrogen or sulfur atom of a separate entity.	
ENVO:01001576	Central Ranges Xeric Shrub Ecoregion	biolink:OntologyClass	mondo			Central Australia Ecoregion	http://purl.obolibrary.org/obo/ENVO_01001576		
ENVO:01001575	Carnarvon Xeric Shrublands Ecoregion	biolink:OntologyClass	mondo			Western coast of Australia Ecoregion	http://purl.obolibrary.org/obo/ENVO_01001575		
ENVO:01001578	The Great Sandy-Tanami Desert Ecoregion	biolink:OntologyClass	mondo			Northwestern Australia	http://purl.obolibrary.org/obo/ENVO_01001578		
ENVO:01001577	Gibson Desert Ecoregion	biolink:OntologyClass	mondo			Western central Australia	http://purl.obolibrary.org/obo/ENVO_01001577		
MONDO:0000061	obsolete microcephaly, primary, autosomal recessive	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000061		
MONDO:0000060	microcephalic osteodysplastic primordial dwarfism	biolink:Disease	mondo	UMLS:CN239360|DC:0000276			http://purl.obolibrary.org/obo/MONDO_0000060		UMLS:CN239360
MONDO:0000065	microvascular complications of diabetes, susceptibility	biolink:Disease	mondo	DC:0000281|UMLS:CN357508|OMIMPS:603933	predisposition	microvascular complications of diabetes	http://purl.obolibrary.org/obo/MONDO_0000065		UMLS:CN357508
MONDO:0000064	obsolete syndromic microphthalmia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000064		
MONDO:0000063	obsolete molybdenum cofactor deficiency (disease)	biolink:Disease	mondo	DC:0000279|HP:0003570		molybdenum cofactor deficiency	http://purl.obolibrary.org/obo/MONDO_0000063		
MONDO:0000062	isolated microphthalmia	biolink:Disease	mondo	DOID:0080637|DC:0000278|OMIMPS:251600		nonsyndromic microphthalmia|microphthalmia, isolated	http://purl.obolibrary.org/obo/MONDO_0000062	A microphthalmia that is not part of a larger syndrome.	DOID:0080637
MONDO:0014699	intellectual disability, autosomal dominant 40	biolink:Disease	mondo	UMLS:C4225275|OMIM:616579|DOID:0070070		autosomal dominant non-syndromic intellectual disability 40|intellectual disability, autosomal dominant 40|autosomal dominant non-syndromic intellectual disability caused by mutation in CHAMP1|autosomal dominant mental retardation 40|mental retardation, autosomal dominant 40; MRD40|mental retardation, autosomal dominant type 40|MRD40|CHAMP1 autosomal dominant non-syndromic intellectual disability|intellectual disability, autosomal dominant type 40|intellectual disability, autosomal dominant 40; MRD40|autosomal dominant intellectual disability 40|mental retardation, autosomal dominant 40	http://purl.obolibrary.org/obo/MONDO_0014699	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CHAMP1 gene.	UMLS:C4225275|http://identifiers.org/omim/616579|DOID:0070070
MONDO:0012036	systemic lupus erythematosus, susceptibility to, 4	biolink:Disease	mondo	OMIM:608437	predisposition	systemic lupus erythematosus, susceptibility to, 4; SLEB4|systemic lupus erythematosus, susceptibility to, 4|SLEB4	http://purl.obolibrary.org/obo/MONDO_0012036		http://identifiers.org/omim/608437
MONDO:0012037	intellectual disability, autosomal recessive 3	biolink:Disease	mondo	MESH:C563929|OMIM:608443|UMLS:C1838023		intellectual disability, autosomal recessive 3; MRT3|autosomal recessive non-syndromic intellectual disability caused by mutation in CC2D1A|mental retardation, autosomal recessive type 3|mental retardation, autosomal recessive 3|CC2D1A autosomal recessive non-syndromic intellectual disability|MRT3|mental retardation, autosomal recessive 3; MRT3|intellectual disability, autosomal recessive type 3|intellectual disability, autosomal recessive 3	http://purl.obolibrary.org/obo/MONDO_0012037	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CC2D1A gene.	UMLS:C1838023|MESH:C563929|http://identifiers.org/omim/608443
MONDO:0014698	microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	biolink:Disease	mondo	UMLS:C4225276|Orphanet:457351|OMIM:616577	ordo_malformation_syndrome	epilepsy, hearing loss, and mental retardation syndrome|epilepsy, hearing loss, and mental retardation syndrome; EHLMRS|epilepsy, hearing loss, and intellectual disability syndrome|epilepsy, hearing loss, and intellectual disability syndrome; EHLMRS|EHLMRS|microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome	http://purl.obolibrary.org/obo/MONDO_0014698		UMLS:C4225276|http://identifiers.org/omim/616577|ORPHA:457351
MONDO:0014697	immunodeficiency, common variable, 12	biolink:Disease	mondo	UMLS:C4225277|OMIM:616576		NFKB1 common variable immunodeficiency|common variable immunodeficiency caused by mutation in NFKB1|immunodeficiency, common variable, 12; CVID12|immunodeficiency, common variable, 12|NFKB1 deficiency|CVID12|immunodeficiency, common variable, type 12	http://purl.obolibrary.org/obo/MONDO_0014697	Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB1 gene.	http://identifiers.org/omim/616576|UMLS:C4225277
MONDO:0012034	autosomal dominant limb-girdle muscular dystrophy type 1F	biolink:Disease	mondo	DOID:0110304|MESH:C564242|ICD10:G71.0|OMIM:608423|Orphanet:55595|SCTID:719989007|GARD:0012530	ordo_disease	muscular dystrophy, limb-girdle, type 1F; LGMD1F|limb-girdle muscular dystrophy type 1F|muscular dystrophy, limb-girdle, type 1F|LGMD1F|muscular dystrophy limb-girdle type 1F	http://purl.obolibrary.org/obo/MONDO_0012034	Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.	ORPHA:55595|MESH:C564242|DOID:0110304|SNOMEDCT:719989007|http://identifiers.org/omim/608423
MONDO:0012035	craniosynostosis-intracranial calcifications syndrome	biolink:Disease	mondo	UMLS:C1842058|Orphanet:52054|MESH:C564241|SCTID:720816004|OMIM:608432|ICD10:Q87.0	ordo_malformation_syndrome	Longman-Tolmie syndrome|craniosynostosis, calcification of basal ganglia, and facial dysmorphism	http://purl.obolibrary.org/obo/MONDO_0012035	Craniosynostosis-intracranial calcification is a form of syndromic craniosynostosis, characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner.	UMLS:C1842058|MESH:C564241|ORPHA:52054|http://identifiers.org/omim/608432|SNOMEDCT:720816004
MONDO:0014696	cerebrooculofacioskeletal syndrome 3	biolink:Disease	mondo	MESH:C565035|UMLS:C1851443|OMIM:616570		cerebrooculofacioskeletal syndrome 3|COFS3|cerebrooculofacioskeletal syndrome 3; COFS3|cerebrooculofacioskeletal syndrome type 3	http://purl.obolibrary.org/obo/MONDO_0014696		http://identifiers.org/omim/616570|UMLS:C1851443|MESH:C565035
MONDO:0012038	speech-sound disorder	biolink:Disease	mondo	MESH:C563928|OMIM:608445|UMLS:C4078288		speech-sound disorder|SSD	http://purl.obolibrary.org/obo/MONDO_0012038		UMLS:C4078288|MESH:C563928|http://identifiers.org/omim/608445
MONDO:0012039	myocardial infarction, susceptibility to	biolink:Disease	mondo	OMIM:608446	predisposition	myocardial infarction, susceptibility to, 1|susceptibility to myocardial infarction|myocardial infarction, protection against|myocardial infarction, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0012039		http://identifiers.org/omim/608446
MONDO:0014691	Noonan syndrome 9	biolink:Disease	mondo	UMLS:C4225282|OMIM:616559|DOID:0060587		NS9|SOS2 Noonan syndrome|Noonan syndrome 9; NS9|Noonan syndrome type 9|Noonan syndrome 9|Noonan syndrome caused by mutation in SOS2	http://purl.obolibrary.org/obo/MONDO_0014691	Any Noonan syndrome in which the cause of the disease is a mutation in the SOS2 gene.	DOID:0060587|http://identifiers.org/omim/616559|UMLS:C4225282
ENVO:01001572	Tirari-Sturt Stony Desert Ecoregion	biolink:OntologyClass	mondo			Southern central Australia Ecoregion	http://purl.obolibrary.org/obo/ENVO_01001572		
MONDO:0014690	dyskeratosis congenita, autosomal dominant 6	biolink:Disease	mondo	UMLS:C4225284|OMIM:616553|DOID:0070023		dyskeratosis congenita, autosomal dominant 6|dyskeratosis congenita, autosomal dominant type 6|dyskeratosis congenita, autosomal dominant 6; DKCA6|DKCA6|autosomal dominant dyskeratosis congenita 6|dyskeratosis congenita, autosomal recessive 7	http://purl.obolibrary.org/obo/MONDO_0014690	A dyskeratosis congenita that has material basis in an autosomal dominant mutation of ACD on chromosome 16q22.1.	http://identifiers.org/omim/616553|DOID:0070023|UMLS:C4225284
ENVO:01001571	Australasia Ecoregion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001571		
ENVO:01001574	Pilbara Shrublands Ecoregion	biolink:OntologyClass	mondo			Western Australia Ecoregion	http://purl.obolibrary.org/obo/ENVO_01001574		
UBERON:3011045	gasserian ganglion	biolink:AnatomicalEntity	mondo			gasserian ganglia	http://purl.obolibrary.org/obo/UBERON_3011045		
ENVO:01001573	Simpson Desert Region	biolink:OntologyClass	mondo			Eastern central Australia Ecoregion	http://purl.obolibrary.org/obo/ENVO_01001573		
MONDO:0014695	glioma susceptibility 9	biolink:Disease	mondo	OMIM:616568	predisposition	glioma susceptibility 9|glioma susceptibility type 9|GLM9|POT1 malignant glioma|Pot1 malignant glioma|malignant glioma caused by mutation in Pot1|malignant glioma caused by mutation in POT1|glioma susceptibility 9; GLM9	http://purl.obolibrary.org/obo/MONDO_0014695	Any malignant glioma in which the cause of the disease is a mutation in the POT1 gene.	http://identifiers.org/omim/616568
MONDO:0012032	Braddock syndrome	biolink:Disease	mondo	ICD10:Q87.8|UMLS:C4303988|Orphanet:52047|UMLS:C1842082|SCTID:720575002|OMIM:608406|MESH:C564244	ordo_malformation_syndrome	VATER-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency|Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency	http://purl.obolibrary.org/obo/MONDO_0012032	Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect.	MESH:C564244|UMLS:C4303988|ORPHA:52047|SNOMEDCT:720575002|http://identifiers.org/omim/608406|UMLS:C1842082
MONDO:0012033	bradyopsia	biolink:Disease	mondo	ICD9:368.8|GARD:0012299|ICD10:H53.8|Orphanet:75374|SCTID:711163009|MESH:C564243|OMIM:608415|DOID:0050335	ordo_disease|gard_rare	prolonged electroretinal response suppression|prolonged electroretinal response suppression; PERRS|PERRS|bradyopsia	http://purl.obolibrary.org/obo/MONDO_0012033	Bradyopsia is characterised by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia.	MESH:C564243|ORPHA:75374|http://identifiers.org/omim/608415|SNOMEDCT:711163009|DOID:0050335
MONDO:0014694	spondylocostal dysostosis 6, autosomal recessive	biolink:Disease	mondo	OMIM:616566|GARD:0012807|UMLS:C4225279		spondylocostal dysostosis 6, autosomal recessive|autosomal recessive spondylocostal dysostosis caused by mutation in RIPPLY2|spondylocostal dysostosis 6|spondylocostal dysostosis 6, autosomal recessive; SCDO6|RIPPLY2 autosomal recessive spondylocostal dysostosis|SCDO6	http://purl.obolibrary.org/obo/MONDO_0014694	Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the RIPPLY2 gene.	http://identifiers.org/omim/616566|UMLS:C4225279
MONDO:0012030	autosomal dominant nonsyndromic deafness 43	biolink:Disease	mondo	DOID:0110568|UMLS:C1842108|OMIM:608394|ICD10:H90.3|MESH:C564246		DFNA43|deafness, autosomal dominant 43|deafness, autosomal dominant 43; DFNA43|autosomal dominant nonsyndromic deafness type 43|autosomal dominant deafness 43	http://purl.obolibrary.org/obo/MONDO_0012030	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p12.	MESH:C564246|DOID:0110568|http://identifiers.org/omim/608394|UMLS:C1842108
ENVO:01001570	terrestrial ecoregion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001570	An ecoregion which is located on a landmass.	
MONDO:0014693	Noonan syndrome 10	biolink:Disease	mondo	UMLS:C4225280|OMIM:616564|DOID:0060588		Noonan syndrome 10|NS10|Noonan syndrome type 10|LZTR1 Noonan syndrome|Noonan syndrome 10; NS10|Noonan syndrome caused by mutation in LZTR1	http://purl.obolibrary.org/obo/MONDO_0014693	Any Noonan syndrome in which the cause of the disease is a mutation in the LZTR1 gene.	DOID:0060588|http://identifiers.org/omim/616564|UMLS:C4225280
MONDO:0014692	retinitis pigmentosa 74	biolink:Disease	mondo	DOID:0110401|OMIM:616562|UMLS:C4225281|ICD10:H35.5		RP74|retinitis pigmentosa 74|retinitis pigmentosa 74; RP74|BBS2 retinitis pigmentosa|retinitis pigmentosa caused by mutation in BBS2|retinitis pigmentosa type 74	http://purl.obolibrary.org/obo/MONDO_0014692	Any retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene.	DOID:0110401|http://identifiers.org/omim/616562|UMLS:C4225281
MONDO:0012031	platelet-type bleeding disorder 10	biolink:Disease	mondo	UMLS:C1842090|OMIM:608404|DOID:0111046|MESH:C564245		BDPLT10|CD36 deficiency|CD36 inherited bleeding disorder, platelet-type|bleeding disorder, Platelet-type, 10|platelet glycoprotein 4 deficiency|inherited bleeding disorder, platelet-type caused by mutation in CD36|platelet glycoprotein IV deficiency	http://purl.obolibrary.org/obo/MONDO_0012031	Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the CD36 gene.	MESH:C564245|http://identifiers.org/omim/608404|DOID:0111046|UMLS:C1842090
UBERON:0001789	outer nuclear layer of retina	biolink:AnatomicalEntity	mondo			outer nuclear layer|layer of outer granules|retinal outer nuclear layer|ONL|stratum nucleare externum (retina)|stratum nucleare externum retinae|retina, outer nuclear layer|neural retina outer nuclear layer|retina outer nuclear layer|external nuclear layer|retinal outer nuclear layers	http://purl.obolibrary.org/obo/UBERON_0001789	The layer within the retina where the photoreceptor cell bodies reside.	
UBERON:0001788	outer limiting layer of retina	biolink:AnatomicalEntity	mondo			outer limiting membrane|external limiting membrane|outer limiting membranes|blood retina barrier|stratum limitans externum retinae|retina outer limiting membrane|BRB|retina external limiting lamina|stratum limitans externum (retina)|external limiting lamina of retina|external limiting membrane of retina|outer limiting membrane of retina	http://purl.obolibrary.org/obo/UBERON_0001788	The row of jucntional complexes between the plasma membranes of rod segments and the Muller glia cells; this barrier separates the layer of inner and outer segments of the rods and cones from the outer nuclear layer and forms a blood-retina barrier[MP].	
UBERON:0013774	diaphysis of metatarsal bone	biolink:AnatomicalEntity	mondo			metatarsal diaphysis|shaft of metatarsal bone|diaphysis of metatarsal|metatarsal bone diaphysis	http://purl.obolibrary.org/obo/UBERON_0013774	A diaphysis that is part of a metatarsal bone.	
UBERON:0011111	humeroradial joint	biolink:AnatomicalEntity	mondo			humero-radial joint|articulatio humeroradialis	http://purl.obolibrary.org/obo/UBERON_0011111	A hinge joint between the head of the radius and the capitulum of the humerus.	
UBERON:0011110	humeroulnar joint	biolink:AnatomicalEntity	mondo			humero-ulnar joint|articulatio humeroulnaris	http://purl.obolibrary.org/obo/UBERON_0011110	The humeroulnar joint, is part of the elbow-joint or the Olecron Joint, between the ulna and humerus bones is the simple hinge-joint, which allows for movements of flexion, extension and circumduction. The Humero-Ulnar Joint is the junction of trochlear notch of the ulna and the trochlea of the humerus. Owing to the obliquity of the trochlea of the humerus, this movement does not take place in the antero-posterior plane of the body of the humerus. When the forearm is extended and supinated, the axis of the arm and forearm are not in the same line; the arm forms an obtuse angle with the forearm. During flexion, however, the forearm and the hand tend to approach the middle line of the body, and thus enable the hand to be easily carried to the face. The accurate adaptation of the trochlea of the humerus, with its prominences and depressions, to the semilunar notch of the ulna, prevents any lateral movement. Flexion is produced by the action of the Biceps brachii and Brachialis, assisted by the Brachioradialis, with a tiny contribution from the muscles arising from the medial epicondyle of the humerus. Extension is produced by the Triceps brachii and AnconC&us, with a tiny contribution from the muscles arising from the lateral epicondyle of the humerus, such as the Extensor digitorum communis.	
UBERON:0013776	skin of palmar/plantar part of autopod	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0013776	A zone of skin that is part of a palmar/plantar part of autopod.	
UBERON:0013777	skin of palm of manus	biolink:AnatomicalEntity	mondo			palmar skin of hand|skin of palmar area of hand	http://purl.obolibrary.org/obo/UBERON_0013777	A zone of skin that is part of a palmar part of manus.	
UBERON:0013772	left nipple	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0013772	A nipple that is in_the_left_side_of a body proper.	
UBERON:0013773	right nipple	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0013773	A nipple that is in_the_right_side_of a body proper.	
UBERON:0011112	tibiofibular joint	biolink:AnatomicalEntity	mondo			fibulatibial joint|tibiafibular joint|fibulotibial joint	http://purl.obolibrary.org/obo/UBERON_0011112	A joint that connects the tibia and the fibula.	
HGNC:13503	ZBTB20	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13503		
UBERON:0011108	synovial joint of pectoral girdle	biolink:AnatomicalEntity	mondo			joint of shoulder girdle|pectoral girdle joint	http://purl.obolibrary.org/obo/UBERON_0011108	A synovial joint that is part of a pectoral girdle region.	
CHEBI:61313	C21-steroid	biolink:ChemicalSubstance	mondo			a C21-steroid	http://purl.obolibrary.org/obo/CHEBI_61313	A steroid that has a structure based on a 21-carbon (pregnane) skeleton. Note that individual examples may have ring substituents at other positions and/or contain double bonds, aromatic A-rings, expanded/contracted rings etc., so the formula and mass may vary from that given for the generic structure.	
UBERON:0011107	synovial joint of pelvic girdle	biolink:AnatomicalEntity	mondo			joint of pelvic girdle|pelvic girdle joint	http://purl.obolibrary.org/obo/UBERON_0011107	A synovial joint that is part of a pelvic girdle region.	
CHEBI:36347	nuclear particle	biolink:ChemicalSubstance	mondo			nuclear particle	http://purl.obolibrary.org/obo/CHEBI_36347	A nucleus or any of its constituents in any of their energy states.	
UBERON:0001790	outer plexiform layer of retina	biolink:AnatomicalEntity	mondo			retinal outer plexiform layers|OPL|external plexiform layer|stratum plexiforme externum|retinal outer plexiform layer|outer plexiform layer|stratum plexiforme externum retinae|retina, outer plexiform layer|retina outer plexiform layer	http://purl.obolibrary.org/obo/UBERON_0001790	The layer within the retina where the bipolar cells synapse with the photoreceptor cells[ZFA]. Between the inner and outer nuclear layers, the outer plexiform layer (OPL) contains connections between the photoreceptors and bipolar and horizontal cells[GO].	
CHEBI:36344	hadron	biolink:ChemicalSubstance	mondo			hadrons	http://purl.obolibrary.org/obo/CHEBI_36344	Hadron is a subatomic particle which experiences the strong force.	
UBERON:0013768	great vessel of heart	biolink:AnatomicalEntity	mondo			great vessel of thorax|great vessel	http://purl.obolibrary.org/obo/UBERON_0013768	Great vessels is a term used to refer collectively to the large vessels that bring blood to and from the heart.	
UBERON:0013769	uterine lumen	biolink:AnatomicalEntity	mondo			uterine space|cavity of uterus|uterine cavity	http://purl.obolibrary.org/obo/UBERON_0013769	A organ cavity that is part of a uterus.	
UBERON:0001796	aqueous humor of eyeball	biolink:AnatomicalEntity	mondo			aqueous humor|aqueous humour|humor aquosus	http://purl.obolibrary.org/obo/UBERON_0001796	A thick watery refractive medium that fills the space between the lens and the cornea[WP].	
UBERON:0001795	inner plexiform layer of retina	biolink:AnatomicalEntity	mondo			retinal internal plexiform layer|retinal inner plexiform layer|stratum plexiforme internum retinae|retina, inner plexiform layer|retina inner plexiform layer|inner plexiform layer|stratum plexiforme internum|stratum plexifome internum|IPL|internal plexiform layer of retina	http://purl.obolibrary.org/obo/UBERON_0001795	Cytoarchitectural layer of the retina that is made up of a dense reticulum of fibrils formed by interlaced dendrites of retinal ganglion cells and cells of the inner nuclear layer (adapted from Wikipedia)	
UBERON:0001798	vitreous body	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0001798	Gelatinous mucoid tissue that is composed of vitreous humor and fills the cavity behind the crystalline lens of the eye and in front of the retina[MP,modified]	
UBERON:0001797	vitreous humor	biolink:AnatomicalEntity	mondo			humor vitreous|humor vitreus|humoral fluid|whole portion of vitreous humor|ocular fluid|portion of vitreous humor|vitreous humour|vitreous fluid|vitreous	http://purl.obolibrary.org/obo/UBERON_0001797	A transparent, semigelatinous substance that fills the cavity behind the crystalline lens of the eye and in front of the retina	
CHEBI:36342	subatomic particle	biolink:ChemicalSubstance	mondo			subatomic particles	http://purl.obolibrary.org/obo/CHEBI_36342	A particle smaller than an atom.	
UBERON:0001792	ganglionic layer of retina	biolink:AnatomicalEntity	mondo			stratum ganglionicum (retina)|GCL layer|retina, ganglion cell layer|retina ganglion cell layer|retinal ganglion layer|RGC layer|ganglionic cell layer of retina|stratum ganglionicum retinae|ganglion cell layer|retinal ganglion cell layer|retina ganglion layer	http://purl.obolibrary.org/obo/UBERON_0001792	Cytoarchitectural layer of retina that contains somata of retinal ganglion cells, bounded by the stratum opticum and the inner plexiform layer	
UBERON:0001791	inner nuclear layer of retina	biolink:AnatomicalEntity	mondo			stratum nucleare internum retinae|retinal inner nuclear layer|INL|inner nuclear layer|layer of inner granules|intermediate cell layer|retina, inner nuclear layer|neural retina inner nuclear layer|retina inner nuclear layer|stratum nucleare internum	http://purl.obolibrary.org/obo/UBERON_0001791	Cytoarchitectural layer of retina containing closely packed cell bodies, the majority of which are bipolar cells (adapted from Wikipedia).	
CHEBI:36343	composite particle	biolink:ChemicalSubstance	mondo			composite particles	http://purl.obolibrary.org/obo/CHEBI_36343	A subatomic particle known to have substructure (i.e. consisting of smaller particles).	
UBERON:0001794	inner limiting layer of retina	biolink:AnatomicalEntity	mondo			stratum limitans internum retinae|inner limiting membrane|ILM|retina internal limiting lamina|internal limiting lamina of retina|internal limiting membrane of retina|retina inner limiting membrane|inner limiting membranes|inner limiting membrane of retina	http://purl.obolibrary.org/obo/UBERON_0001794	The row of fused Muller cell processes and astrocytes that separates the retinal nerve fiber layer from the vitreous[MP].	
CHEBI:36340	fermion	biolink:ChemicalSubstance	mondo			fermions|fermion	http://purl.obolibrary.org/obo/CHEBI_36340	Particle of half-integer spin quantum number following Fermi-Dirac statistics. Fermions are named after Enrico Fermi.	
HGNC:8654	PCCB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8654		
UBERON:0001793	nerve fiber layer of retina	biolink:AnatomicalEntity	mondo			stratum opticum of retina|optic fiber layer|layer of nerve fibres of retina|neural retina nerve fibre layer|optic fiber layers|stratum neurofibrarum (retina)|retina nerve fiber layer|stratum neurofibrarum retinae|nerve fiber layer|layer of nerve fibers of retina|optic fiber layer|stratum neurofibrum retinae	http://purl.obolibrary.org/obo/UBERON_0001793	layer of the retina formed by expansion of the fibers of the optic nerve	
HGNC:8653	PCCA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8653		
MONDO:0002501	brain glioblastoma	biolink:Disease	mondo	DOID:3073|SCTID:276828006|NCIT:C4642|EFO:0006545|UMLS:C0349543		glioblastoma multiforme of brain|brain glioblastoma (disease)|grade IV astrocytic tumor of the brain|grade IV brain astrocytic tumor|glioblastoma multiforme of the brain|grade IV astrocytic tumor of brain|grade IV brain astrocytic neoplasm|grade IV astrocytic neoplasm of the brain|glioblastoma (disease) of brain|grade IV astrocytic neoplasm of brain|brain glioblastoma multiforme (disease)|brain glioblastoma multiforme|brain glioblastoma	http://purl.obolibrary.org/obo/MONDO_0002501	A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor.	UMLS:C0349543|NCIT:C4642|SNOMEDCT:276828006|DOID:3073
NCBITaxon:36596	Prunus armeniaca	organism taxon	mondo	GC_ID:1		apricot|Armeniaca vulgaris|Armeniaca vulgaris var. vulgaris|Armeniaca vulgaris var. glabra	http://purl.obolibrary.org/obo/NCBITaxon_36596		
MONDO:0002502	obsolete giant cell glioblastoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002502		
MONDO:0002503	adult astrocytic tumour	biolink:Disease	mondo	DOID:3076|NCIT:C7049|UMLS:C1332183		adult astrocytic tumor|adult astrocytic neoplasm|astrocytic tumor|adult astrocytoma	http://purl.obolibrary.org/obo/MONDO_0002503	An astrocytic tumor occurring during adulthood. Representative examples include diffuse astrocytoma, anaplastic astrocytoma, and glioblastoma.	UMLS:C1332183|DOID:3076|NCIT:C7049
MONDO:0002504	obsolete grade III astrocytoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002504		
UBERON:0001778	ciliary epithelium	biolink:AnatomicalEntity	mondo			ciliary body epithelium|ocular ciliary epithelium|epithelium of ciliary body	http://purl.obolibrary.org/obo/UBERON_0001778	A double layer covering the ciliary body that produces aqueous humor.	
UBERON:0001777	substantia propria of cornea	biolink:AnatomicalEntity	mondo			substantia propria|corneal stroma|substantia propria corneae|stroma of cornea	http://purl.obolibrary.org/obo/UBERON_0001777	the lamellated connective tissue of the cornea between the Bowman and Descemet membranes	
UBERON:0001779	iris stroma	biolink:AnatomicalEntity	mondo			iridial stroma|stroma of iris	http://purl.obolibrary.org/obo/UBERON_0001779	The delicate vascular connective tissue that lies between the anterior surface of the iris and the pars iridica retinae.	
MONDO:0002500	obsolete gliosarcoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002500		
UBERON:0013765	digestive system element	biolink:AnatomicalEntity	mondo			digestive organ|digestive system organ	http://purl.obolibrary.org/obo/UBERON_0013765	Any of the organs or elements that are part of the digestive system. Examples: tongue, esophagus, spleen, crop, lunge feeding organ, tooth elements.	
UBERON:0011104	epiphysis of fifth metacarpal bone	biolink:AnatomicalEntity	mondo			fifth metacarpal bone epiphysis|metacarpal 5 epiphysis	http://purl.obolibrary.org/obo/UBERON_0011104	An epiphysis that is part of a metacarpal bone of digit 5.	
HGNC:13508	BPY2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13508		
UBERON:0013760	external cervical os	biolink:AnatomicalEntity	mondo			external os|ostium of uterus|ostium uteri|external os of uterus	http://purl.obolibrary.org/obo/UBERON_0013760	Opening of uterine cervix into the vagina.	
UBERON:0013761	cervical cavity	biolink:AnatomicalEntity	mondo			endocervical canal|endocervix|cervical canal of uterus|canal of the cervix|cervical canal|cavity of cervix|lumen of cervix of uterus|endocervical	http://purl.obolibrary.org/obo/UBERON_0013761	The cavity formed by the walls of the cervix.	
NCBITaxon:194924	Desulfovibrionaceae	organism taxon	mondo	GC_ID:11|PMID:16403855			http://purl.obolibrary.org/obo/NCBITaxon_194924		
CHEBI:36357	polyatomic entity	biolink:ChemicalSubstance	mondo			polyatomic entities	http://purl.obolibrary.org/obo/CHEBI_36357	Any molecular entity consisting of more than one atom.	
CHEBI:36358	polyatomic ion	biolink:ChemicalSubstance	mondo			polyatomic ions	http://purl.obolibrary.org/obo/CHEBI_36358	An ion consisting of more than one atom.	
HGNC:6005	IL21	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6005		
HGNC:6006	IL21R	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6006		
HGNC:13517	CLIC5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13517		
HGNC:6008	IL2RA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6008		
UBERON:0013756	venous blood	biolink:AnatomicalEntity	mondo			blood in vein|portion of venous blood|venous blood	http://purl.obolibrary.org/obo/UBERON_0013756	A blood that is part of a vein.	
UBERON:0013757	capillary blood	biolink:AnatomicalEntity	mondo			blood in capillary|portion of blood in capillary|portion of capillary blood	http://purl.obolibrary.org/obo/UBERON_0013757	A blood that is part of a capillary.	
UBERON:0013758	cervical os	biolink:AnatomicalEntity	mondo			uterine cervix opening|cervical opening	http://purl.obolibrary.org/obo/UBERON_0013758	One of two openings in the uterine cervix.	
CHEBI:36359	phosphorus oxoacid derivative	biolink:ChemicalSubstance	mondo			phosphorus oxoacid derivative	http://purl.obolibrary.org/obo/CHEBI_36359		
UBERON:0013759	internal cervical os	biolink:AnatomicalEntity	mondo			internal orifice|internal os	http://purl.obolibrary.org/obo/UBERON_0013759	Opening of uterine cervix into the body of the uterus.	
UBERON:0001785	cranial nerve	biolink:AnatomicalEntity	mondo			cranial neural tree organ|nervus cranialis|cranial nerves	http://purl.obolibrary.org/obo/UBERON_0001785	Cranial nerves are nerves that emerge directly from the brain, in contrast to spinal nerves, which emerge from segments of the spinal cord.	
UBERON:0001787	photoreceptor layer of retina	biolink:AnatomicalEntity	mondo			layer of rods and cones|stratum segmentorum externorum et internorum (retina)|retinal photoreceptor layer|retinal photoreceptor layers|retina photoreceptor layer|stratum segmentorum externorum et internorum retinae	http://purl.obolibrary.org/obo/UBERON_0001787	The layer within the retina where the photoreceptor cell receptor segments reside.	
UBERON:0001781	layer of retina	biolink:AnatomicalEntity	mondo			retina neuronal layer|retinal layer|retinal neuronal layer|retina layer	http://purl.obolibrary.org/obo/UBERON_0001781	Any of the layers that make up the retina[MP].	
HGNC:6000	IL1RN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6000		
UBERON:0001780	spinal nerve	biolink:AnatomicalEntity	mondo			backbone nerve|spinal column nerve|vertebral column nerve|nerve of spine|nerve of backbone|spine nerve|nerve of vertebral column|nervi spinales|spinal nerves|spinal nerve tree|nerve of spinal column	http://purl.obolibrary.org/obo/UBERON_0001780	the any of the paired peripheral nerves formed by the union of the dorsal and ventral spinal roots from each spinal cord segment[MP,modified]	
UBERON:0001783	optic disc	biolink:AnatomicalEntity	mondo			optic nerve head|physiologic blind spot|optic disk|optic papilla|physiologic blind spot of mariotte|optic disk|optic nerve disc	http://purl.obolibrary.org/obo/UBERON_0001783	The optic disc or optic nerve head is the location where ganglion cell axons exit the eye to form the optic nerve. There are no light sensitive rods or cones to respond to a light stimulus at this point. This causes a break in the visual field called 'the blind spot' or the 'physiological blind spot'. The optic nerve head in a normal human eye carries from 1 to 1.2 million neurons from the eye towards the brain. [WP,unvetted].	
UBERON:0001782	pigmented layer of retina	biolink:AnatomicalEntity	mondo			RPE|stratum pigmentosum (retina)|pigment epithelium of retina|PRE|stratum pigmentosum retinae|epithelium, retinal pigment|pigmented retinal epithelium|retinal pigmented epithelium|pigmented retina|outer pigmented layer of retina|retinal pigment epithelium|stratum pigmentosa retinae|retinal pigment layer|pigmented epithelium|p. pigmentosa retinae|pigmented retina epithelium	http://purl.obolibrary.org/obo/UBERON_0001782	A monolayer of pigmented epithelium covering the neural retina; develops from the outer of the two layers of the optic cup[ZFA]. the pigmented cell layer just outside the neurosensory retina that nourishes retinal visual cells, and is firmly attached to the underlying choroid and overlying retinal visual cells[WP].	
NCBITaxon:85552	Scylla paramamosain	organism taxon	mondo	GC_ID:1		green mud crab	http://purl.obolibrary.org/obo/NCBITaxon_85552		
UBERON:0001766	anterior chamber of eyeball	biolink:AnatomicalEntity	mondo			camera anterior bulbi oculi|anterior chamber|eye anterior chamber|camera anterior|anterior chamber of eye|camera oculi anterior|camera anterior bulbi	http://purl.obolibrary.org/obo/UBERON_0001766	the space in the eye, filled with aqueous humor, and bounded anteriorly by the cornea and a small portion of the sclera and posteriorly by a small portion of the ciliary body, the iris, and part of the crystalline lens	
UBERON:0001769	iris	biolink:AnatomicalEntity	mondo			irides|irises|anterior uvea	http://purl.obolibrary.org/obo/UBERON_0001769	the adjustable membrane, composed of the stroma and pigmented epithelium, located just in front of the crystalline lens within the eye	
UBERON:0001768	uvea	biolink:AnatomicalEntity	mondo			uvea|pars iridica retinae|uveal tract|tunica vasculosa of eyeball|tunica vasculosa bulbi|vascular layer of eyeball|tunica vasculatis oculi	http://purl.obolibrary.org/obo/UBERON_0001768	the pigmented middle of the three concentric layers that make up an eye, consisting of the iris, ciliary body and choroid[WP,edited].	
UBERON:0013752	diaphysis of metacarpal bone	biolink:AnatomicalEntity	mondo			corpus ossis metacarpi|body of metacarpal|shaft of metacarpal bone|metacarpal bone diaphysis|shaft of metacarpal	http://purl.obolibrary.org/obo/UBERON_0013752	A diaphysis that is part of a metacarpal bone.	
UBERON:0013753	distal epiphysis of metacarpal bone	biolink:AnatomicalEntity	mondo			lower end of metacarpal bone|distal end of metacarpal bone|caput ossis metacarpi|head of metacarpal bone	http://purl.obolibrary.org/obo/UBERON_0013753	A distal epiphysis that is part of a metacarpal bone.	
UBERON:0013754	integumentary system layer	biolink:AnatomicalEntity	mondo			skin layer|layer of skin	http://purl.obolibrary.org/obo/UBERON_0013754	A organ component layer that is part of a integumental system.	
UBERON:0035102	transverse process of caudal vertebra	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0035102	A transverse process that is part of a caudal vertebra	
UBERON:0013755	arterial blood	biolink:AnatomicalEntity	mondo			portion of arterial blood|blood in artery|arterial blood	http://purl.obolibrary.org/obo/UBERON_0013755	A blood that is part of a artery.	
UBERON:0013750	metaphysis of tibia	biolink:AnatomicalEntity	mondo			tibial metaphysis	http://purl.obolibrary.org/obo/UBERON_0013750	A metaphysis that is part of a tibia.	
UBERON:0013751	metaphysis of radius	biolink:AnatomicalEntity	mondo			radial metaphysis	http://purl.obolibrary.org/obo/UBERON_0013751	A metaphysis that is part of a radius bone.	
UBERON:0013749	metaphysis of humerus	biolink:AnatomicalEntity	mondo			humeral metaphysis|diaphyseal end of humerus	http://purl.obolibrary.org/obo/UBERON_0013749	A metaphysis that is part of a metaphysis.	
HGNC:6015	IL4R	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6015		
HGNC:6018	IL6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6018		
UBERON:0013748	ulnar metaphysis	biolink:AnatomicalEntity	mondo			metaphysis of ulna	http://purl.obolibrary.org/obo/UBERON_0013748	A metaphysis that is part of a ulna.	
UBERON:0001774	skeletal muscle of trunk	biolink:AnatomicalEntity	mondo			muscle organ of trunk|body musculature|muscle organ of torso|torso muscle organ|trunk muscle organ|trunk muscle|muscle of trunk|trunk musculature	http://purl.obolibrary.org/obo/UBERON_0001774	A skeletal muscle organ that is part of the trunk region.	
UBERON:0001773	sclera	biolink:AnatomicalEntity	mondo			scleral capsule	http://purl.obolibrary.org/obo/UBERON_0001773	Opaque fibrous outer layer of the eyeball[ZFA,Kardong,WP].	
UBERON:0001776	optic choroid	biolink:AnatomicalEntity	mondo			optic choroid|choroidea|chorioid|eye choroid|choroid|choroidea|posterior uvea|choroid coat	http://purl.obolibrary.org/obo/UBERON_0001776	vascular layer containing connective tissue, of the eye lying between the retina and the sclera. The choroid provides oxygen and nourishment to the outer layers of the retina. Along with the ciliary body and iris, the choroid forms the uveal tract[WP].	
UBERON:0001775	ciliary body	biolink:AnatomicalEntity	mondo			ciliary bodies|corpus ciliare|ocular ciliary body|anterior uvea	http://purl.obolibrary.org/obo/UBERON_0001775	the thickened portion of the vascular tunic, which lies between the choroid and the iris, composed of ciliary muscle and ciliary processes	
HGNC:6010	IL2RG	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6010		
UBERON:0001770	lacrimal canaliculus	biolink:AnatomicalEntity	mondo			canaliculus lacrimalis	http://purl.obolibrary.org/obo/UBERON_0001770	The part of the lacrimal duct that connects the lacrimal punctum to the lacrimal sac.	
UBERON:0001772	corneal epithelium	biolink:AnatomicalEntity	mondo			epithelium corneæ anterior layer|anterior corneal epithelium|epithelial tissue of cornea|endothelium corneale|e. anterius corneae|epithelium of cornea|cornea epithelium|anterior endothelium of cornea|epithelium anterius (cornea)|epithelium posterius corneae|cornea epithelial tissue|endothelium anterius corneae|epithelium anterius corneae|endothelium camerae anterioris bulbi|external epithelium of cornea	http://purl.obolibrary.org/obo/UBERON_0001772	the smooth stratified squamous epithelium that covers the outer surface of the cornea	
UBERON:0001771	pupil	biolink:AnatomicalEntity	mondo			pupils	http://purl.obolibrary.org/obo/UBERON_0001771	the central circular aperture of the iris through which light rays enter the eye	
UBERON:0001759	vagus nerve	biolink:AnatomicalEntity	mondo			nervus vagus|nerve X|vagal nerve|vagus X nerve|pneuomgastric nerve|vagus|vagus nerve tree|vagus nerve or its root|cranial nerve X|10n|vagus nerve [X]|nervus vagus [x]|tenth cranial nerve|CN-X	http://purl.obolibrary.org/obo/UBERON_0001759	Cranial nerve that branches into the lateral (to body sense organs) and the intestino-accessorial (to the skin, muscles of shoulder, hyoid, larynx, gut, lungs, and heart).	
UBERON:0001756	middle ear	biolink:AnatomicalEntity	mondo			auris media	http://purl.obolibrary.org/obo/UBERON_0001756	The middle ear is the air-filled cavity within the skull of vertebrates that lies between the outer ear and the inner ear. It is linked to the pharynx (and therefore to outside air) via the Eustachian tube and in mammals contains the three ear ossicles, which transmit auditory vibrations from the outer ear (via the tympanum) to the inner ear (via the oval window)[GO].	
UBERON:0001758	periodontium	biolink:AnatomicalEntity	mondo			periodontal membrane|tooth supporting structure|paradentium|periodontal ligament	http://purl.obolibrary.org/obo/UBERON_0001758	The tissues that invest or help to invest and support the teeth, including the periodontal ligament, gingivae, cementum, and alveolar and supporting bone[BTO].	
UBERON:0001757	pinna	biolink:AnatomicalEntity	mondo			auricle of ear|auricle of external ear|auricula (auris externa)|pinnae|pinna of ear|auricula|auricle	http://purl.obolibrary.org/obo/UBERON_0001757	The part of the ear that projects from the head, connecting to the external acoustic meatus.	
UBERON:0035111	medial plantar nerve	biolink:AnatomicalEntity	mondo			internal plantar nerve|nervus plantaris medialis	http://purl.obolibrary.org/obo/UBERON_0035111	A plantar nerve that supplies the medial side of the plantar part of the foot, including pedal digit 1.	
UBERON:0035110	lateral plantar nerve	biolink:AnatomicalEntity	mondo			external plantar nerve|nervus plantaris lateralis	http://purl.obolibrary.org/obo/UBERON_0035110	A plantar nerve that supplies the lateral side of the plantar part of the foot, including pedal digit 5.	
CHEBI:51958	organic polycyclic compound	biolink:ChemicalSubstance	mondo			organic polycyclic compounds	http://purl.obolibrary.org/obo/CHEBI_51958		
CHEBI:51959	organic tricyclic compound	biolink:ChemicalSubstance	mondo			organic tricyclic compounds	http://purl.obolibrary.org/obo/CHEBI_51959		
HGNC:6026	CXCR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6026		
HGNC:6027	CXCR2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6027		
CHEBI:36333	local anaesthetic	biolink:ChemicalSubstance	mondo			anesthesique local|local anaesthetic|Lokalanaesthetikum|local anaesthetics|local anesthetics	http://purl.obolibrary.org/obo/CHEBI_36333	Any member of a group of drugs that reversibly inhibit the propagation of signals along nerves. Wide variations in potency, stability, toxicity, water-solubility and duration of action determine the route used for administration, e.g. topical, intravenous, epidural or spinal block.	
UBERON:0035109	plantar nerve	biolink:AnatomicalEntity	mondo			nerve, plantar	http://purl.obolibrary.org/obo/UBERON_0035109	A nerve that innervates the sole of the foot. Planar nerves arise from the posterior branch of the tibial nerve.	
CHEBI:36339	baryon	biolink:ChemicalSubstance	mondo			baryons	http://purl.obolibrary.org/obo/CHEBI_36339	Baryon is a fermion that does experience the strong force (strong interaction). The term is derived from the Greek betaalpharhoupsilonsigma (heavy).	
CHEBI:36338	lepton	biolink:ChemicalSubstance	mondo			leptons	http://purl.obolibrary.org/obo/CHEBI_36338	Lepton is a fermion that does not experience the strong force (strong interaction). The term is derived from the Greek lambdaepsilonpitauomicronsigma (small, thin).	
UBERON:0001763	odontogenic papilla	biolink:AnatomicalEntity	mondo			dermal papilla|dentinal papilla|papilla dentis|dental papilla|odontogenic condensation|pharyngeal tooth mesenchyme|tooth mesenchyme	http://purl.obolibrary.org/obo/UBERON_0001763	A condensation of odontoblasts that forms the part of a tooth germ that gives rise to dentin and pulp in the mature tooth. It lies below a cellular aggregation known as the enamel organ.	
UBERON:0001765	mammary duct	biolink:AnatomicalEntity	mondo			lactiferous tubule|galactophorous duct|galactophorous tubule|lactiferous duct|ductus lactiferi|lactiferous gland duct|mammilary duct|mammary gland duct	http://purl.obolibrary.org/obo/UBERON_0001765	Epithelial tube that transports milk[GO].	
UBERON:0001764	maxillary sinus	biolink:AnatomicalEntity	mondo			maxillary antrum|Highmore antrum|sinus maxilliaris|antrum of Highmore	http://purl.obolibrary.org/obo/UBERON_0001764	One of the paired paranasal sinuses, located in the body of the maxilla, communicating with the middle meatus of the nasal cavity.	
HGNC:6024	IL7R	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6024		
UBERON:0001760	frontal sinus	biolink:AnatomicalEntity	mondo			sinus frontales|cavity of frontal bone	http://purl.obolibrary.org/obo/UBERON_0001760	The frontal sinus occupies the dorsal part of the skull medial to the orbit. It overlaps cranial and nasal cavities and is often referred to as the conchofrontal sinus. .	
MONDO:0002534	fallopian tube papilloma	biolink:Disease	mondo	UMLS:C1517123|NCIT:C40112|DOID:3173		fallopian tube serous papilloma|fallopian tube papilloma	http://purl.obolibrary.org/obo/MONDO_0002534	A benign epithelial neoplasm that arises from the fallopian tube. It is characterized by the presence of fibrovascular stalks lined by serous epithelial cells.	NCIT:C40112|DOID:3173|UMLS:C1517123
MONDO:0002535	verrucous papilloma	biolink:Disease	mondo	ICDO:8051/0|NCIT:C4101|UMLS:C0334243|DOID:3177			http://purl.obolibrary.org/obo/MONDO_0002535	A benign epithelial neoplasm characterized by a papillary growth pattern, lack of significant cytologic atypia, and a wart-like appearance.	DOID:3177|NCIT:C4101|UMLS:C0334243
MONDO:0002536	skin papilloma	biolink:Disease	mondo	SCTID:255184001|DOID:3178|NCIT:C4614|UMLS:C0347390		skin papilloma NOS|papilloma of the skin|basosquamous tumor, benign|zone of skin papilloma|papilloma of skin|cutaneous papilloma|skin papilloma	http://purl.obolibrary.org/obo/MONDO_0002536	A benign papillary neoplastic growth on the skin composed of epithelial cells and a fibrous stalk. It usually develops in the eyelid, axilla, neck, upper chest, and groin.	NCIT:C4614|SNOMEDCT:255184001|DOID:3178|UMLS:C0347390
MONDO:0002537	inverted papilloma	biolink:Disease	mondo	NCIT:C3793|ICD9:212.0|DOID:3179|UMLS:C0206721|SCTID:104081000119103|MESH:D018308		inverted papilloma|inverted papilloma, squamous cell	http://purl.obolibrary.org/obo/MONDO_0002537	An endophytic benign papillary epithelial neoplasm that results from the invagination and proliferation of epithelial cells in the underlying stroma. Representative examples are the inverted urothelial papilloma that arises from the urinary tract and inverted Schneiderian papilloma that arises from the nasal cavity or paranasal sinuses.	NCIT:C3793|SNOMEDCT:104081000119103|DOID:3179|UMLS:C0206721|MESH:D018308
MONDO:0002530	obsolete malignant spindle cell melanoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002530		
MONDO:0002531	skin neoplasm	biolink:Disease	mondo	SCTID:126488004|UMLS:C0037286|NCIT:C3372|ICD9:239.2|DOID:3165|MESH:D012878|EFO:0004198|ONCOTREE:SKIN		zone of skin neoplasm|neoplasm of zone of skin|tumor of skin|zone of skin tumor|skin neoplasm|neoplasm of skin by site|zone of skin neoplasm (disease)|tumor of zone of skin|skin|tumor of the skin|neoplasm of skin|skin benign neoplasm|skin tumor|neoplasm of the skin|skin neoplasms	http://purl.obolibrary.org/obo/MONDO_0002531	A benign or malignant tumor involving the skin. Representative examples of benign skin neoplasms include the benign melanocytic skin nevus, acanthoma, sebaceous adenoma, sweat gland adenoma, lipoma, hemangioma, fibroma, and benign fibrous histiocytoma. Representative examples of malignant skin neoplasms include basal cell carcinoma, squamous cell carcinoma, melanoma, and Kaposi sarcoma.	UMLS:C0037286|DOID:3165|SNOMEDCT:126488004|MESH:D012878|NCIT:C3372
MONDO:0002532	squamous cell neoplasm	biolink:Disease	mondo	NCIT:C3792|DOID:3168|UMLS:C0206720|MESH:D018307		squamous cell tumor|epidermoid cell neoplasm|epidermoid cell tumor|squamous cell neoplasm|squamous cell tumor (qualifier value)	http://purl.obolibrary.org/obo/MONDO_0002532	A neoplasm that is composed of squamous epithelial cells. Squamous cell carcinoma is a representative example.	NCIT:C3792|DOID:3168|UMLS:C0206720|MESH:D018307
MONDO:0002533	papillary adenoma	biolink:Disease	mondo	NCIT:C79951|UMLS:C0205650|DOID:3172		adenoma, papillary, benign|papillary adenoma NOS (morphologic abnormality)|papillary adenoma|glandular papilloma	http://purl.obolibrary.org/obo/MONDO_0002533	An adenoma characterized by the presence of papillary epithelial patterns.	NCIT:C79951|DOID:3172|UMLS:C0205650
MONDO:0014519	chronic mountain sickness, susceptibility to	biolink:Disease	mondo	OMIM:616182|UMLS:C0274294	predisposition	chronic mountain sickness, susceptibility to|Monge disease	http://purl.obolibrary.org/obo/MONDO_0014519		UMLS:C0274294|http://identifiers.org/omim/616182
UBERON:0011154	gular region	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011154	Surface structure that extends from the chin covering pharynx and larynx.	
MONDO:0014518	platelet-type bleeding disorder 19	biolink:Disease	mondo	OMIM:616176|DOID:0111048|UMLS:C4015405|ICD10:D69.4|Orphanet:438207	ordo_disease	severe autosomal recessive macrothrombocytopenia|PRKACG isolated hereditary giant platelet disorder|BDPLT19|bleeding disorder, platelet-type, 19; BDPLT19|isolated hereditary giant platelet disorder caused by mutation in PRKACG|bleeding disorder, platelet-type, 19	http://purl.obolibrary.org/obo/MONDO_0014518	Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene.	ORPHA:438207|DOID:0111048|UMLS:C4015405|http://identifiers.org/omim/616176
MONDO:0014517	generalized epilepsy with febrile seizures plus, type 9	biolink:Disease	mondo	DOID:0111301|OMIM:616172|UMLS:C4015395		generalized epilepsy with febrile seizures plus, type 9|STX1B generalized epilepsy with febrile seizures plus|STX1b generalized epilepsy with febrile seizures plus|generalized epilepsy with febrile seizures plus, type 9; GEFSP9|generalized epilepsy with febrile seizures plus caused by mutation in STX1B|GEFSP9|generalized epilepsy with febrile seizures plus caused by mutation in STX1b|Gefs+, type 9	http://purl.obolibrary.org/obo/MONDO_0014517	Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the STX1B gene.	UMLS:C4015395|DOID:0111301|http://identifiers.org/omim/616172
CHEBI:36309	cyclic tetrapyrrole	biolink:ChemicalSubstance	mondo			macrocyclic tetrapyrrole|macrocyclic tetrapyrroles|cyclic tetrapyrroles	http://purl.obolibrary.org/obo/CHEBI_36309		
UBERON:0011159	primary subdivision of cranial skeletal system	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011159		
UBERON:0011158	primary subdivision of skull	biolink:AnatomicalEntity	mondo			skull subdivision|subdivision of skull	http://purl.obolibrary.org/obo/UBERON_0011158	The skull can be divided into two: the neurocranium and the facial skeleton	
UBERON:0011156	facial skeleton	biolink:AnatomicalEntity	mondo			viscerocranium|facial skeleton|ossa faciei|ossa facialia|facial bone	http://purl.obolibrary.org/obo/UBERON_0011156	Subdivision of skull that consists of the facial bones.	
GO:0120255	olefinic compound biosynthetic process	biolink:OntologyClass	mondo			alkene substituted compound anabolic process|alkene substituted compound anabolism|alkene substituted compound synthesis|alkene substituted compound biosynthesis|alkene substituted compound biosynthetic process	http://purl.obolibrary.org/obo/GO_0120255	The chemical reactions and pathways resulting in the formation of an olefinic compound, any compound which contains a carbon-carbon double bond (aka C=C).	
MONDO:0014523	juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	biolink:Disease	mondo	Orphanet:445062|UMLS:C4015436|OMIM:616192	ordo_disease	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus|ACPHD|combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome|ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus; ACPHD	http://purl.obolibrary.org/obo/MONDO_0014523		UMLS:C4015436|ORPHA:445062|http://identifiers.org/omim/616192
MONDO:0014522	retinal dystrophy and obesity	biolink:Disease	mondo	UMLS:C4015424|OMIM:616188		RDOB|retinal dystrophy and obesity|retinal dystrophy and obesity; RDOB	http://purl.obolibrary.org/obo/MONDO_0014522		UMLS:C4015424|http://identifiers.org/omim/616188
MONDO:0014521	progressive myoclonic epilepsy type 7	biolink:Disease	mondo	Orphanet:435438|NCIT:C142804|UMLS:C4015420|OMIM:616187|DOID:0111447|ICD10:G40.3	ordo_disease	PME type 7|progressive myoclonus epilepsy type 7|progressive myoclonic epilepsy due to KV3.1 deficiency|epilepsy, progressive myoclonic 7|epilepsy, progressive myoclonic 7; EPM7|meak|EPM7|epilepsy, progressive myoclonic type 7|myoclonus epilepsy and ataxia due to potassium channel mutation|progressive myoclonic epilepsy caused by mutation in KCNC1|KCNC1 progressive myoclonic epilepsy	http://purl.obolibrary.org/obo/MONDO_0014521	Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCNC1 gene.	UMLS:C4015420|DOID:0111447|ORPHA:435438|http://identifiers.org/omim/616187|NCIT:C142804
MONDO:0014520	46,XX ovarian dysgenesis-short stature syndrome	biolink:Disease	mondo	DOID:0080496|Orphanet:444048|ICD10:Q96.8|OMIM:616185|UMLS:C4015409	ordo_disease	ODG4|ovarian dysgenesis type 4|ovarian dysgenesis 4|ovarian dysgenesis 4; ODG4	http://purl.obolibrary.org/obo/MONDO_0014520		DOID:0080496|UMLS:C4015409|http://identifiers.org/omim/616185|ORPHA:444048
MONDO:0014527	progeroid features-hepatocellular carcinoma predisposition syndrome	biolink:Disease	mondo	DOID:0111264|OMIM:616200|Orphanet:435953|UMLS:C4015461	ordo_disease	Ruijs-Aalfs syndrome|RUIJS-Aalfs syndrome; RJALS|RJALS|RUIJS-Aalfs syndrome	http://purl.obolibrary.org/obo/MONDO_0014527		UMLS:C4015461|DOID:0111264|ORPHA:435953|http://identifiers.org/omim/616200
MONDO:0014526	polyglucosan body myopathy type 2	biolink:Disease	mondo	ICD10:E74.0|UMLS:C4015452|Orphanet:456369|OMIM:616199	ordo_disease	polyglucosan body myopathy caused by mutation in GYG1|polyglucosan body myopathy type 2|PGBM2|GYG1 polyglucosan body myopathy|polyglucosan body myopathy 2|polyglucosan body myopathy 2; PGBM2	http://purl.obolibrary.org/obo/MONDO_0014526	Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene.	ORPHA:456369|UMLS:C4015452|http://identifiers.org/omim/616199
MONDO:0014525	combined oxidative phosphorylation defect type 23	biolink:Disease	mondo	EFO:0009033|UMLS:C4015447|ICD10:I42.2|OMIM:616198|Orphanet:444013|DOID:0111500	ordo_disease	GTPBP3 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency 23; COXPD23|COXPD23|combined oxidative phosphorylation deficiency 23|combined oxidative phosphorylation deficiency caused by mutation in GTPBP3|combined oxidative phosphorylation deficiency type 23	http://purl.obolibrary.org/obo/MONDO_0014525	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the GTPBP3 gene.	UMLS:C4015447|DOID:0111500|http://identifiers.org/omim/616198|ORPHA:444013
GO:0120254	olefinic compound metabolic process	biolink:OntologyClass	mondo			alkene substituted compound metabolic process|alkene substituted compound metabolism	http://purl.obolibrary.org/obo/GO_0120254	The chemical reactions and pathways involving an olefinic compound, any compound which contains a carbon-carbon double bond (aka C=C).	
MONDO:0014524	intellectual disability, autosomal recessive 47	biolink:Disease	mondo	OMIM:616193|UMLS:C4015444		intellectual disability, autosomal recessive 47|FMN2 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive type 47|mental retardation, autosomal recessive 47|intellectual disability, autosomal recessive 47; MRT47|MRT47|mental retardation, autosomal recessive 47; MRT47|autosomal recessive non-syndromic intellectual disability caused by mutation in FMN2|intellectual disability, autosomal recessive type 47	http://purl.obolibrary.org/obo/MONDO_0014524	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FMN2 gene.	UMLS:C4015444|http://identifiers.org/omim/616193
MONDO:0002527	keratoacanthoma	biolink:Disease	mondo	MESH:D007636|UMLS:C0022572|NCIT:C3146|ICDO:8071/1|DOID:3149|SCTID:254662007			http://purl.obolibrary.org/obo/MONDO_0002527	A dome-shaped, rapidly growing skin lesion composed of well differentiated squamous cells. It represents a proliferation of the infundibular epithelium of the hair follicle and its morphologic distinction from a well differentiated carcinoma may be difficult or impossible. Keratoacanthomas affect males more frequently than females and the majority tend to regress spontaneously. It has been suggested that keratoacanthoma represents a distinct subtype of squamous cell carcinoma of the skin.	UMLS:C0022572|NCIT:C3146|DOID:3149|MESH:D007636|SNOMEDCT:254662007
MONDO:0002528	synovium neoplasm	biolink:Disease	mondo	NCIT:C8964|UMLS:C0476203|DOID:315		synovial membrane of synovial joint neoplasm (disease)|neoplasm of synovial membrane of synovial joint|synovial neoplasm NOS (morphologic abnormality)|synovial membrane of synovial joint tumor|synovial neoplasm (morphologic abnormality)|tumor of the synovium|synovial membrane of synovial joint neoplasm|tumor of synovial membrane of synovial joint|tumor of synovium|synovial tumor|synovial neoplasm|neoplasm of synovium|neoplasm of the synovium	http://purl.obolibrary.org/obo/MONDO_0002528	A benign or malignant soft tissue neoplasm arising exclusively from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath, localized giant cell tumor of tendon sheath, and malignant giant cell tumor of tendon sheath.	UMLS:C0476203|DOID:315|NCIT:C8964
MONDO:0002529	skin squamous cell carcinoma	biolink:Disease	mondo	ONCOTREE:CSCC|UMLS:C0553723|NCIT:C4819|DOID:3151|SCTID:254651007|COHD:4111921|EFO:1001927		cutaneous squamous cell carcinoma|squamous cell carcinoma of the skin|skin squamous cell cancer|CSCC|squamous cell carcinoma - skin|epidermoid carcinoma of skin|epidermoid carcinoma of the skin|squamous cell skin carcinoma|skin squamous cell carcinoma|squamous cell carcinoma of skin|epidermoid skin carcinoma|zone of skin squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002529	A carcinoma arising from the squamous cells of the epidermis. Skin squamous cell carcinoma is most commonly found on sun-exposed areas. The majority of the tumors are well-differentiated.	NCIT:C4819|DOID:3151|SNOMEDCT:254651007|UMLS:C0553723
MONDO:0002545	spinal cord disease	biolink:Disease	mondo	ICD9:336.9|UMLS:C0037928|COHD:135526|DOID:319|ICD9:336.8|SCTID:48522003|MESH:D013118|NCIT:C97110|ICD10:G95.9		spinal cord disease|disorder of spinal cord|disease or disorder of spinal cord|myelopathy|disease of spinal cord|spinal cord disease or disorder|spinal cord disorder|disorder of spinal cord	http://purl.obolibrary.org/obo/MONDO_0002545	A disease involving the spinal cord.	MESH:D013118|DOID:319|SNOMEDCT:48522003|UMLS:C0037928|NCIT:C97110
MONDO:0002546	schwannoma	biolink:Disease	mondo	NCIT:C3269|DOID:3192|ICDO:9560/0|SCTID:404022001|DOID:955|GARD:0004767|ICD9:215.9|MedDRA:10029235|UMLS:C0027809|EFO:0000693|MedDRA:10029234|UMLS:CN202001|Orphanet:252164|ONCOTREE:SCHW	ordo_disease|gard_rare	SCHW|peripheral fibroblastoma|schwannoma, benign|neurinoma|schwannoma|schwannoma (WHO grade I)|benign schwannoma|psammomatous schwannoma|benign neurilemmoma|neurilemmoma|neurolemmoma	http://purl.obolibrary.org/obo/MONDO_0002546	A benign, usually encapsulated slow growing tumor composed of Schwann cells. It affects peripheral and cranial nerves. It recurs infrequently and only rare cases associated with malignant transformation have been reported.	UMLS:C0027809|DOID:3192|MEDDRA:10029234|MEDDRA:10029235|DOID:955|ORPHA:252164|UMLS:C0854906|SNOMEDCT:404022001|NCIT:C3269|UMLS:CN202001
MONDO:0002547	nerve sheath neoplasm	biolink:Disease	mondo	DOID:3193|NCIT:C4972|MESH:D018317|ONCOTREE:NST		nerve sheath neoplasm|neoplasm of nerve sheath|nerve sheath tumor|tumor of nerve sheath|nerve sheath tumour|peripheral nerve sheath neoplasm|neoplasm of the nerve sheath	http://purl.obolibrary.org/obo/MONDO_0002547	A benign or malignant neoplasm arising from the perineural cells in the sheaths surrounding the nerves. Representative examples include neurofibroma, schwannoma, and malignant peripheral nerve sheath tumor.	NCIT:C4972|DOID:3193|MESH:D018317
MONDO:0002548	cellular schwannoma	biolink:Disease	mondo	SCTID:404026003|NCIT:C4724|ICD9:215.9|UMLS:C0431124|ONCOTREE:CSCHW|DOID:3196		cellular neurinoma|cellular neurilemmoma|cellular schwannoma|CSCHW	http://purl.obolibrary.org/obo/MONDO_0002548	A morphologic variant of schwannoma characterized by hypercellularity, Antoni A pattern, and the absence of well-formed Verocay bodies.	NCIT:C4724|DOID:3196|SNOMEDCT:404026003|UMLS:C0431124
MONDO:0002541	spinal cord oligodendroglioma	biolink:Disease	mondo	NCIT:C4535|SCTID:254950006|DOID:3184|UMLS:C0346295		well differentiated spinal cord oligodendroglioma|oligodendroglioma of spinal cord|well differentiated spinal cord oligodendroglial tumor|spinal cord oligodendroglioma	http://purl.obolibrary.org/obo/MONDO_0002541	A oligodendroglioma that involves the spinal cord.	DOID:3184|SNOMEDCT:254950006|NCIT:C4535|UMLS:C0346295
MONDO:0002542	spinal cord glioma	biolink:Disease	mondo	NCIT:C4534|UMLS:C2937245|DOID:3185|SCTID:254946004		spinal cord malignant glioma|glial tumor of spinal cord|spinal cord glial neoplasm|glioma of spinal cord|glial neoplasm spinal cord|malignant glioma of spinal cord|spinal cord glial tumor|spinal cord glioma	http://purl.obolibrary.org/obo/MONDO_0002542	A neoplasm that arises from glial cells in the spinal cord. Representative examples include astrocytoma, oligodendroglioma, and ependymoma.	DOID:3185|SNOMEDCT:254946004|NCIT:C4534|UMLS:C2937245
MONDO:0002543	adult oligodendroglioma	biolink:Disease	mondo	NCIT:C4014|DOID:3186|UMLS:C0279070		oligodendroglioma|adult oligodendroglioma|adult brain oligodendroglioma|grade II adult oligodendroglial tumor|oligodendroglioma of adults	http://purl.obolibrary.org/obo/MONDO_0002543	An oligodendroglioma occurring during adulthood.	DOID:3186|NCIT:C4014|UMLS:C0279070
MONDO:0002544	brain oligodendroglioma	biolink:Disease	mondo	SCTID:254940005|UMLS:C0346286|NCIT:C9377|DOID:3187		oligodendroglioma of brain|brain oligodendroglioma|oligodendroglioma of the brain	http://purl.obolibrary.org/obo/MONDO_0002544	A oligodendroglioma that involves the brain.	NCIT:C9377|DOID:3187|SNOMEDCT:254940005|UMLS:C0346286
MONDO:0014509	vitelliform macular dystrophy 5	biolink:Disease	mondo	OMIM:616152|UMLS:C4015343		VMD5|macular dystrophy, vitelliform, 5|IMPG2 vitelliform macular dystrophy|macular dystrophy, vitelliform, 5; VMD5|vitelliform macular dystrophy caused by mutation in IMPG2|macular dystrophy, vitelliform, type 5	http://purl.obolibrary.org/obo/MONDO_0014509	Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG2 gene.	http://identifiers.org/omim/616152|UMLS:C4015343
MONDO:0014508	vitelliform macular dystrophy 4	biolink:Disease	mondo	OMIM:616151|UMLS:C4015342		vitelliform macular dystrophy caused by mutation in IMPG1|VMD4|macular dystrophy, vitelliform, 4|IMPG1 vitelliform macular dystrophy|macular dystrophy, vitelliform, 4; VMD4|macular dystrophy, vitelliform, type 4	http://purl.obolibrary.org/obo/MONDO_0014508	Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG1 gene.	http://identifiers.org/omim/616151|UMLS:C4015342
UBERON:0011143	upper urinary tract	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011143	Subdivision of urinary system which consists of the kidney and the ureters.	
MONDO:0014507	Catel-Manzke syndrome	biolink:Disease	mondo	SCTID:722383001|MESH:C535347|GARD:0000028|Orphanet:1388|UMLS:C1844887|OMIM:616145|ICD10:Q87.8	ordo_malformation_syndrome|gard_rare	hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome|Catel Manzke syndrome|Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome|Pierre Robin sequence-hyperphalangy-clinodactyly syndrome|index finger anomaly-Pierre Robin syndrome|Pierre Robin syndrome with hyperphalangy and clinodactyly|index finger anomaly with Pierre Robin syndrome|Palatodigital syndrome, Catel-Manzke type|Catel-Manzke syndrome|Catel-Manzke syndrome; CATMANS|Palatodigital syndrome Catel-Manzke type|CATMANS|micrognathia digital syndrome	http://purl.obolibrary.org/obo/MONDO_0014507	Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis.	http://identifiers.org/omim/616145|SNOMEDCT:722383001|ORPHA:1388|UMLS:C1844887|MESH:C535347
UBERON:0011142	axial ossicle	biolink:AnatomicalEntity	mondo			ossicle of postcranial-axial skeleton|vertebral ossicle|ossicle of axial skeleton	http://purl.obolibrary.org/obo/UBERON_0011142	Ossicle that is part of the axial skeleton.	
MONDO:0014506	hypomyelinating leukodystrophy 9	biolink:Disease	mondo	DOID:0060791|Orphanet:438114|OMIM:616140|UMLS:C4015323|ICD10:E75.2	ordo_disease	RARS-related autosomal recessive hypomyelinating leukodystrophy|leukodystrophy caused by mutation in RARS|RARS leukodystrophy|leukodystrophy, hypomyelinating, type 9|leukodystrophy, hypomyelinating, 9; HLD9|HLD9|leukodystrophy, hypomyelinating, 9|hypomyelinating leukodystrophy type 9	http://purl.obolibrary.org/obo/MONDO_0014506	Any leukodystrophy in which the cause of the disease is a mutation in the RARS gene.	http://identifiers.org/omim/616140|DOID:0060791|ORPHA:438114|UMLS:C4015323
MONDO:0002540	childhood oligodendroglioma	biolink:Disease	mondo	UMLS:C0280475|NCIT:C4045|DOID:3183		oligodendroglioma|pediatric oligodendroglioma|oligodendroglioma of childhood|pediatric oligodendroglioma	http://purl.obolibrary.org/obo/MONDO_0002540	An oligodendroglioma that arises from the central nervous system and occurs during childhood.	DOID:3183|UMLS:C0280475|NCIT:C4045
UBERON:0011141	appendicular ossicle	biolink:AnatomicalEntity	mondo			ossicle of appendicular skeleton	http://purl.obolibrary.org/obo/UBERON_0011141	Ossicle that is part of the appendicular skeleton.	
UBERON:0011148	submucosal gland	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011148	Gland of the lamina epithelialis mucosae which perforate the lamina muscularis, with their adenomeres located in the submucosal connective tissue.	
MONDO:0014512	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	biolink:Disease	mondo	UMLS:C4015357|ICD10:G40.4|Orphanet:438216|OMIM:616158|UMLS:CN237609|DOID:0070061	ordo_clinical_subtype	mental retardation, autosomal dominant 31; MRD31|autosomal dominant intellectual disability 31|mental retardation, autosomal dominant 31|intellectual disability, autosomal dominant 31|autosomal dominant mental retardation 31|autosomal dominant non-syndromic intellectual disability 31|intellectual disability, autosomal dominant type 31|intellectual disability, autosomal dominant 31; MRD31|MRD31|mental retardation, autosomal dominant type 31	http://purl.obolibrary.org/obo/MONDO_0014512	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.	ORPHA:438216|UMLS:C4015357|UMLS:CN237609|http://identifiers.org/omim/616158|DOID:0070061
CHEBI:38976	alkylbenzene	biolink:ChemicalSubstance	mondo			Alkylbenzol|alkylbenzene|alkylbenzenes	http://purl.obolibrary.org/obo/CHEBI_38976	A  monocyclic arene that is benzene substituted with one or more alkyl groups.	
CL:1001610	bone marrow hematopoietic cell	biolink:Cell	mondo	CALOHA:TS-2109		bone marrow hematopoietic cells|bone marrow poietic cells	http://purl.obolibrary.org/obo/CL_1001610	Hematopoietic cells resident in the bone marrow. Include: hematopoietic stem cells (lymphoid stem cells and myeloid stem cells) and the precursor cells for thrombocytes, erythrocytes, basophils, neutrophils, eosinophils, monocytes and lymphocytes.	
MONDO:0014511	Charcot-Marie-Tooth disease axonal type 2S	biolink:Disease	mondo	UMLS:C4015349|OMIM:616155|DOID:0110171|ICD10:G60.0|Orphanet:443073	ordo_disease	IGHMBP2 Charcot-Marie-Tooth disease|Charcot-Marie-Tooth neuropathy, type 2S|Charcot-Marie-Tooth disease, axonal, type 2S|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2S|Charcot-Marie-Tooth neuropathy type 2S|CMT2S|Charcot-Marie-Tooth disease caused by mutation in IGHMBP2|Charcot-Marie-Tooth disease, axonal, type 2S; CMT2S|autosomal recessive axonal Charcot-Marie-Tooth type 2S|Charcot-Marie-Tooth disease type 2S	http://purl.obolibrary.org/obo/MONDO_0014511	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene.	UMLS:C4015349|DOID:0110171|http://identifiers.org/omim/616155|ORPHA:443073
CHEBI:38975	methylbenzene	biolink:ChemicalSubstance	mondo			methylbenzenes	http://purl.obolibrary.org/obo/CHEBI_38975	Any alkylbenzene that is benzene substituted with one or more methyl groups.	
MONDO:0014510	fatty acyl-CoA reductase 1 deficiency	biolink:Disease	mondo	Orphanet:438178|UMLS:C4015344|ICD10:E71.3|OMIM:616154	ordo_disease	peroxisomal fatty acyl-CoA reductase 1 disorder|severe intellectual disability-epilepsy-cataract syndrome due to FAR1 deficiency|peroxisomal fatty acyl-CoA reductase 1 disorder; PFCRD|severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency|PFCRD|Fatty acyl-CoA reductase 1 disorder or fatty acyl-CoA reductase 1 deficiency|severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder|fatty acyl-CoA reductase 1 disorder	http://purl.obolibrary.org/obo/MONDO_0014510		ORPHA:438178|UMLS:C4015344|http://identifiers.org/omim/616154
UBERON:0011139	synovial limb joint	biolink:AnatomicalEntity	mondo			synovial joint of free limb segment	http://purl.obolibrary.org/obo/UBERON_0011139	Any synovial joint that is part of a (free) limb.	
UBERON:0011138	postcranial axial skeletal system	biolink:AnatomicalEntity	mondo			post-cranial axial skeletal system|axial skeletal system	http://purl.obolibrary.org/obo/UBERON_0011138	Subdivision of the skeletal system which consists of the postcranial axial skeleton plus associated joints.	
MONDO:0014516	microcephaly and chorioretinopathy 2	biolink:Disease	mondo	DOID:0080106|UMLS:C4015388|OMIM:616171		microcephaly and chorioretinopathy caused by mutation in PLK4|microcephaly and chorioretinopathy, autosomal recessive, 2; MCCRP2|microcephaly and chorioretinopathy, autosomal recessive, type 2|microcephaly and chorioretinopathy, autosomal recessive, 2|microcephaly and chorioretinopathy type 2|MCCRP2|PLK4 microcephaly and chorioretinopathy	http://purl.obolibrary.org/obo/MONDO_0014516	Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the PLK4 gene.	DOID:0080106|UMLS:C4015388|http://identifiers.org/omim/616171
MONDO:0014515	macular dystrophy with central cone involvement	biolink:Disease	mondo	OMIM:616170|UMLS:C4015371		CCMD|macular dystrophy with central cone involvement|macular dystrophy with central cone involvement; CCMD	http://purl.obolibrary.org/obo/MONDO_0014515		UMLS:C4015371|http://identifiers.org/omim/616170
MONDO:0014514	aortic aneurysm, familial thoracic 9	biolink:Disease	mondo	OMIM:616166|UMLS:C4015368		MFAP5 familial thoracic aortic aneurysm and aortic dissection|AAT9|aortic aneurysm, familial thoracic 9|aortic aneurysm, thoracic, with or without aortic dissection|familial thoracic aortic aneurysm and aortic dissection caused by mutation in MFAP5|aortic aneurysm, familial thoracic 9; AAT9|aortic aneurysm, familial thoracic type 9	http://purl.obolibrary.org/obo/MONDO_0014514	Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MFAP5 gene.	UMLS:C4015368|http://identifiers.org/omim/616166
MONDO:0014513	nemaline myopathy 10	biolink:Disease	mondo	DOID:0110931|UMLS:C4015360|OMIM:616165		nemaline myopathy caused by mutation in LMOD3|nemaline myopathy 10; NEM10|NEM10|nemaline myopathy 10|LMOD3 nemaline myopathy|nemaline myopathy type 10	http://purl.obolibrary.org/obo/MONDO_0014513	Any nemaline myopathy in which the cause of the disease is a mutation in the LMOD3 gene.	UMLS:C4015360|http://identifiers.org/omim/616165|DOID:0110931
MONDO:0002538	obsolete progressive muscular atrophy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002538		
MONDO:0002539	obsolete oligodendroglioma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002539		
MONDO:0002512	papillary adenocarcinoma	biolink:Disease	mondo	NCIT:C2853|UMLS:C0001420|UMLS:C1321863|MESH:D000231|ICDO:8260/3|DOID:3112		infiltrating and papillary adenocarcinoma|papillary adenocarcinoma NOS (morphologic abnormality)|adenocarcinoma, papillary, malignant|papillary adenocarcinoma (morphologic abnormality)|infiltrating papillary adenocarcinoma|papillary adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002512	A morphologic variant of adenocarcinoma. It is characterized by the presence of a papillary growth pattern. Representative examples include thyroid gland papillary carcinoma, invasive papillary breast carcinoma, and ovarian serous surface papillary adenocarcinoma.	NCIT:C2853|UMLS:C0001420|UMLS:C1321863|MESH:D000231|DOID:3112
MONDO:0002513	kidney benign neoplasm	biolink:Disease	mondo	ICD9:223.0|NCIT:C4778|COHD:195498|DOID:3116|EFO:1000111|SCTID:92165001		benign kidney neoplasm|renal tumor, benign|kidney benign neoplasm|benign renal neoplasm|benign renal tumor|renal neoplasm, benign|renal and ureteral tumor|benign tumor of kidney|benign tumor of the kidney|benign neoplasm of kidney|benign neoplasm of the kidney|benign kidney tumor	http://purl.obolibrary.org/obo/MONDO_0002513	A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis.	NCIT:C4778|DOID:3116|SNOMEDCT:92165001
MONDO:0002514	hepatobiliary neoplasm	biolink:Disease	mondo	EFO:0008550|DOID:3117|UMLS:C0854196|NCIT:C8614		hepato-biliary tumor|neoplasm of hepatobiliary system|hepatobiliary system tumor|hepatobiliary neoplasm|hepatobiliary system neoplasm|hepatobiliary tumors|hepatobiliary tumor|hepatobiliary benign neoplasm|liver and biliary system neoplasm|hepatic, biliary, and gallbladder neoplasms|hepatic and biliary tumors|hepato-biliary neoplasm|hepatic and biliary neoplasms|liver and biliary neoplasm|tumor of hepatobiliary system|hepatobiliary system neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0002514	A benign or malignant neoplasm that affects the liver parenchyma, bile ducts, and gallbladder. Representative examples of benign neoplasms include hepatocellular adenoma, bile duct adenoma, and gallbladder lipoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic and extrahepatic cholangiocarcinoma, and gallbladder carcinoma.	UMLS:C0854196|DOID:3117|NCIT:C8614
MONDO:0002515	hepatobiliary disease	biolink:Disease	mondo	UMLS:C0267792|NCIT:C3959|DOID:3118		disorder of hepatobiliary system|liver and biliary tract disease|disease of hepatobiliary system|disease or disorder of hepatobiliary system|disorder of hepatobiliary system|hepatobiliary disorder|hepatobiliary system disease|liver and biliary system disorder|liver and biliary disorder|liver and biliary disease|hepatobiliary system disease or disorder	http://purl.obolibrary.org/obo/MONDO_0002515	A non-neoplastic or neoplastic disorder that affects the liver, bile ducts, and gallbladder. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and cholecystitis. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, and cholangiocarcinoma.	NCIT:C3959|UMLS:C0267792|DOID:3118
MONDO:0002510	obsolete germ cell and embryonal cancer	biolink:Disease	mondo	MESH:D009373|DOID:3095		germ cell and embryonal neoplasm	http://purl.obolibrary.org/obo/MONDO_0002510	Neoplasms composed of primordial germ cells of embryonic gonads or of elements of the germ layers of the embryo, mammalian. The concept does not refer to neoplasms located in the gonads or present in an embryo or fetus.	MESH:D009373|DOID:3095
MONDO:0002511	stenosis of lacrimal sac	biolink:Disease	mondo	ICD10:H04.57|ICD10:H04.579|DOID:3096|COHD:439026|SCTID:11772001|ICD9:375.54			http://purl.obolibrary.org/obo/MONDO_0002511		SNOMEDCT:11772001|DOID:3096
HGNC:6050	IMPA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6050		
UBERON:0011133	intermetatarsal joint	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011133	A joint that connects two adjacent metatarsals	
UBERON:0011132	intercarpal joint	biolink:AnatomicalEntity	mondo			carpal joint|intercarpal|midcarpal articulation|intercarpal articulation	http://purl.obolibrary.org/obo/UBERON_0011132	A skeletal joint that connects two carpal bones.	
UBERON:0011131	intermetacarpal joint	biolink:AnatomicalEntity	mondo			intermetacarpal|intermetacarpal articulation	http://purl.obolibrary.org/obo/UBERON_0011131	A skeletal joint that connects two adjacent metacarpals[FMA,modified].	
UBERON:0011137	axial skeletal system	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011137	Subdivision of the skeletal system which consists of the axial skeleton plus associated joints.	
NCBITaxon:85512	Dicondylia	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_85512		
UBERON:0011136	ligament of vertebral column	biolink:AnatomicalEntity	mondo			vertebral column ligament|vertebral centrum ligament|intervertebral ligament	http://purl.obolibrary.org/obo/UBERON_0011136	ligament that joins successive centra. Important in controlling the stiffness of the vertebral column when it flexes.	
UBERON:0011135	intervertebral cartilage	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011135	A cartilage element that lies between two successive vertebral centra.	
UBERON:0011134	nonsynovial joint	biolink:AnatomicalEntity	mondo			solid joint	http://purl.obolibrary.org/obo/UBERON_0011134	Joint in which the articulating bones or cartilages are connected by ligaments or fibrocartilage without an intervening synovial cavity. Examples: sagittal suture, inferior tibiofibular syndesmosis, costochondral joint, pubic symphysis.	
MONDO:0014501	macular degeneration, early-onset	biolink:Disease	mondo	OMIM:616118|UMLS:C4015286		EOMD|macular degeneration, early-onset; EOMD|macular degeneration, early-onset	http://purl.obolibrary.org/obo/MONDO_0014501		UMLS:C4015286|http://identifiers.org/omim/616118
MONDO:0014500	atrial conduction disease	biolink:Disease	mondo	OMIM:616117|Orphanet:436242|EFO:0005304|ICD10:I45.8|UMLS:C4015285	ordo_disease	CARDIAC conduction disease with or without dilated cardiomyopathy|CCDD|familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease|CARDIAC conduction disease with or without dilated cardiomyopathy; CCDD	http://purl.obolibrary.org/obo/MONDO_0014500	Atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted	UMLS:C4015285|ORPHA:436242|http://identifiers.org/omim/616117
MONDO:0014505	developmental and epileptic encephalopathy, 27	biolink:Disease	mondo	UMLS:C4015316|DOID:0080444|OMIM:616139		early infantile epileptic encephalopathy caused by mutation in GRIN2B|DEE27|EIEE27|epileptic encephalopathy, early infantile, 27; EIEE27|epileptic encephalopathy, early infantile, 27|epileptic encephalopathy, early infantile, type 27|GRIN2B early infantile epileptic encephalopathy	http://purl.obolibrary.org/obo/MONDO_0014505	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2B gene.	DOID:0080444|UMLS:C4015316|http://identifiers.org/omim/616139
MONDO:0014504	Perrault syndrome 5	biolink:Disease	mondo	UMLS:C4015307|OMIM:616138		Perrault syndrome caused by mutation in TWNK|PRLTS5|Perrault syndrome type 5|Perrault syndrome 5; PRLTS5|Perrault syndrome 5|TWNK Perrault syndrome	http://purl.obolibrary.org/obo/MONDO_0014504	Any Perrault syndrome in which the cause of the disease is a mutation in the TWNK gene.	UMLS:C4015307|http://identifiers.org/omim/616138
MONDO:0014503	autosomal recessive spinocerebellar ataxia 17	biolink:Disease	mondo	OMIM:616127|UMLS:C4015301|Orphanet:453521|DOID:0080064|ICD10:G11.1	ordo_disease	SCAR17|spinocerebellar ataxia autosomal recessive type 17|autosomal recessive cerebellar ataxia due to CWF19L1 deficiency|autosomal recessive congenital cerebellar ataxia caused by mutation in CWF19L1|spinocerebellar ataxia, autosomal recessive type 17|spinocerebellar ataxia, autosomal recessive 17; SCAR17|autosomal recessive spinocerebellar ataxia type 17|CWF19L1 autosomal recessive congenital cerebellar ataxia|spinocerebellar ataxia, autosomal recessive 17	http://purl.obolibrary.org/obo/MONDO_0014503	Any autosomal recessive congenital cerebellar ataxia in which the cause of the disease is a mutation in the CWF19L1 gene.	DOID:0080064|UMLS:C4015301|ORPHA:453521|http://identifiers.org/omim/616127
MONDO:0014502	mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	biolink:Disease	mondo	UMLS:C4015293|ICD10:D84.8|Orphanet:319563|OMIM:616126	predisposition|ordo_disease	IMD38|immunodeficiency 38, Mycobacteriosis, autosomal recessive|immunodeficiency 38 with basal ganglia calcification|ISG15 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency|MSMD due to complete ISG15 deficiency|ISG15 deficiency, autosomal recessive|immunodeficiency 38 with basal ganglia calcification; IMD38|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in ISG15	http://purl.obolibrary.org/obo/MONDO_0014502	Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-GuC)rin (BCG) infections.	ORPHA:319563|UMLS:C4015293|http://identifiers.org/omim/616126
MONDO:0002509	non-specific granulomatous orchitis	biolink:Disease	mondo	SCTID:50390006|DOID:3089|NCIT:C27162|UMLS:C0436545		granulomatous orchitis	http://purl.obolibrary.org/obo/MONDO_0002509	Granulomatous inflammation of the testis. It is characterized by the formation of granulomas around the seminiferous tubules. History of trauma may be present. It is assumed to be a reactive process due to autoimmune phenomena.	NCIT:C27162|SNOMEDCT:50390006|UMLS:C0436545|DOID:3089
HGNC:6052	IMPDH1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6052		
MONDO:0002505	childhood astrocytic tumor	biolink:Disease	mondo	DOID:3079|NCIT:C9022|UMLS:C1321865		astrocytic tumors, childhood|astrocytic tumor|childhood astrocytic neoplasm|pediatric astrocytic tumor|juvenile astrocytoma (morphologic abnormality)|astrocytic tumor of childhood|pediatric astrocytic tumor|childhood astrocytic tumor|pediatric astrocytoma|childhood astrocytic tumour|juvenile astrocytoma|pediatric astrocytic neoplasm	http://purl.obolibrary.org/obo/MONDO_0002505	An astrocytic tumor appearing before the age of twenty one without designation of benign or malignant nor designated location.	UMLS:C1321865|NCIT:C9022|DOID:3079
HGNC:6055	IMPG1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6055		
MONDO:0002506	obsolete early myoclonic encephalopathy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002506		
MONDO:0002507	gingival overgrowth	biolink:Disease	mondo	SCTID:54711002|MESH:D019214|DOID:3086|ICD10:K06.1|ICD9:523.8		gingival enlargement NOS|gingival enlargement	http://purl.obolibrary.org/obo/MONDO_0002507	Excessive growth of the gingiva either by an increase in the size of the constituent cells (gingival hypertrophy) or by an increase in their number (gingival hyperplasia). (From Jablonski's Dictionary of Dentistry, 1992, p574)	MESH:D019214|SNOMEDCT:54711002|DOID:3086
MONDO:0002508	gingivitis	biolink:Disease	mondo	ICD9:523.10|MESH:D005891|DOID:3087|NCIT:C34636|UMLS:C0017574|ICD10:K05.1|ICD10:K05.0|ICD10:K05.00|ICD10:K05.10|ICD9:523.1|SCTID:66383009|ICD9:523.0		gingiva inflammation|inflammation of gingiva|acute gingivitis|gingivitis|chronic gingivitis	http://purl.obolibrary.org/obo/MONDO_0002508	A disorder involving inflammation of the gums; may affect surrounding and supporting structures of the teeth.	SNOMEDCT:66383009|MESH:D005891|UMLS:C0017574|NCIT:C34636|DOID:3087
MONDO:0002523	cutaneous mucinosis	biolink:Disease	mondo	ICD9:701.8|SCTID:402721001|MESH:D017520|UMLS:C0162855|DOID:3141		mucinosis|mucinosis affecting the skin|mucinoses	http://purl.obolibrary.org/obo/MONDO_0002523	The mucinoses are a diverse group of disorders which have in common the deposition of basophilic, finely granular and stringy material (mucin) in the connective tissues of the dermis (dermal mucinoses), in the pilosebaceous follicles (follicular mucinoses), or in the epidermis and tumors derived therefrom (epithelial mucinoses).	DOID:3141|UMLS:C0162855|SNOMEDCT:402721001|MESH:D017520
MONDO:0002524	obsolete hyperlipoproteinemia type III	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002524		
MONDO:0002525	inherited lipid metabolism disorder	biolink:Disease	mondo	ICD9:272.8|SCTID:267431006|Orphanet:309005|UMLS:C0154251|MedDRA:10061227|DOID:3146|ICD9:272.9|NCIT:C97092	ordo_group_of_disorders	lipid metabolism disorder|disorder of lipid metabolism|dyslipidemia|fatty acid metabolism disorder	http://purl.obolibrary.org/obo/MONDO_0002525	An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production.	DOID:3146|ORPHA:309005|MEDDRA:10061227|SNOMEDCT:267431006|UMLS:C0154251|NCIT:C97092
MONDO:0002526	dermal unilateral segmental cavernous angioma	biolink:Disease	mondo	DOID:3148|UMLS:C0474966		unilateral segmental cavernous hemangioma|unilateral segmental cavernous hemangioma of the skin	http://purl.obolibrary.org/obo/MONDO_0002526		DOID:3148|UMLS:C0474966
CHEBI:26979	organic heterotricyclic compound	biolink:ChemicalSubstance	mondo			heterotricyclic compounds|organic heterotricyclic compounds	http://purl.obolibrary.org/obo/CHEBI_26979	An organic tricyclic compound in which at least one of the rings of the tricyclic skeleton contains one or more heteroatoms.	
UBERON:0001799	vitreous chamber of eyeball	biolink:AnatomicalEntity	mondo			vitreous chamber|postremal chamber of eyeball|postremal chamber|camera postrema|camera postrema bulbi oculi|camera vitrea bulbi|camera vitrea	http://purl.obolibrary.org/obo/UBERON_0001799	The chamber in the eyeball enclosing the vitreous humor, bounded anteriorly by the lens and ciliary body and posteriorly by the posterior wall of the eyeball[BTO,modified].	
MONDO:0002520	acute hepatic porphyria	biolink:Disease	mondo	GTR:AN0932921|Orphanet:95157|SCTID:55056006|UMLS:C0162533|DOID:3133|UMLS:CN552491|ICD10:E80.2|NCIT:C133887|MESH:D017094	ordo_group_of_disorders	liver porphyria|porphyria, hepatic|porphyria of liver|ALAD deficiency|porphobilinogen synthase deficiency|acute porphyria|Delta-aminolevulinate dehydratase deficiency|hepatic Porphyrias|hepatic porphyria	http://purl.obolibrary.org/obo/MONDO_0002520	A group of metabolic diseases due to deficiency of one of a number of liver enzymes in the biosynthetic pathway of heme. They are characterized by the accumulation and increased excretion of porphyrins or its precursors. Clinical features include neurological symptoms (porphyria, acute intermittent), cutaneous lesions due to photosensitivity (porphyria cutanea tarda), or both (hereditary coproporphyria). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues.	UMLS:C0162533|NCIT:C133887|DOID:3133|ORPHA:95157|MESH:D017094|UMLS:CN552491|SNOMEDCT:55056006
MONDO:0002521	obsolete multiple symmetrical lipomatosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002521		
MONDO:0002522	tenosynovial giant cell tumor	biolink:Disease	mondo	UMLS:C1318543|ICDO:9252/0|EFO:1000562|NCIT:C3402|DOID:314|ICD9:727.02|SCTID:310605004|ICD9:727.89		tenosynovial giant cell neoplasm|giant cell neoplasm of tendon sheath|tenosynovial giant cell tumor|tendon sheath giant cell neoplasm|giant cell tumor of the Tenosynovium|giant cell neoplasm of Tenosynovium|giant cell neoplasm of the Tenosynovium|giant cell tumor of Tenosynovium|tendon sheath giant cell tumor|giant cell tumor of tendon sheath|fibrous histiocytoma of tendon sheath	http://purl.obolibrary.org/obo/MONDO_0002522	A tumor usually arising in the synovium of joints, bursa or tendon sheath. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. According to the growth pattern, it is classified as localized or diffuse.	UMLS:C1318543|NCIT:C3402|DOID:314|SNOMEDCT:310605004
UBERON:0011120	laryngeal joint	biolink:AnatomicalEntity	mondo			joint of larynx|laryngeal articulation	http://purl.obolibrary.org/obo/UBERON_0011120	A skeletal joint that connects a laryngeal cartilage.	
UBERON:0011119	carpometacarpal joint	biolink:AnatomicalEntity	mondo			CMJ|articulationes carpometacarpeæ|carpometacarpal|carpometacarpal articulation	http://purl.obolibrary.org/obo/UBERON_0011119	The carpometacarpal joints (CMC) are joints in the wrist that articulates the distal row of carpal bones and the proximal bases of the metacarpal bones.	
UBERON:0011118	tarsometatarsal joint	biolink:AnatomicalEntity	mondo			tarsometatarsal|Lisfranc joint|articulationes tarsometatarsales|tarso-metatarsal join|tarsometatarsal articulation|cuboideometatarsal	http://purl.obolibrary.org/obo/UBERON_0011118	The tarsometatarsal articulations are arthrodial joints in the pes.	
UBERON:0013778	skin of sole of pes	biolink:AnatomicalEntity	mondo			plantar skin of foot|skin of plantar part of foot|skin of sole of foot	http://purl.obolibrary.org/obo/UBERON_0013778	A zone of skin that is part of a skin of pes.	
HGNC:6062	ING1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6062		
CHEBI:24319	EC 6.3.1.2 (glutamate--ammonia ligase) inhibitor	biolink:ChemicalSubstance	mondo			EC 6.3.1.2 inhibitors|glutamate--ammonia ligase (EC 6.3.1.2) inhibitor|L-glutamate:ammonia ligase (ADP-forming) inhibitor|glutamate--ammonia ligase inhibitors|L-glutamine synthetase inhibitor|glutamine synthetase inhibitor|glutamylhydroxamic synthetase inhibitors|glutamine synthetase inhibitors|glutamylhydroxamic synthetase inhibitor|L-glutamine synthetase inhibitors|glutamate--ammonia ligase inhibitor|L-glutamate:ammonia ligase (ADP-forming) inhibitors|glutamate--ammonia ligase (EC 6.3.1.2) inhibitors|EC 6.3.1.2 (glutamate--ammonia ligase) inhibitors|EC 6.3.1.2 inhibitor	http://purl.obolibrary.org/obo/CHEBI_24319	An EC 6.3.* (C-N bond-forming ligase) inhibitor that interferes with the action of glutamate--ammonia ligase (EC 6.3.1.2).	
CHEBI:24318	glutamine family amino acid	biolink:ChemicalSubstance	mondo			glutamine family amino acids	http://purl.obolibrary.org/obo/CHEBI_24318	An L-alpha-amino acid which is L-glutamic acid or any of the essential amino acids biosynthesised from it (glutamine, proline and arginine). A closed class.	
MONDO:0002516	digestive system cancer	biolink:Disease	mondo	ICD10:C15.C26|ICD10:C26.9|NCIT:C4890|ICD9:239.0|DOID:3119		gastrointestinal cancer, NOS|malignant digestive system neoplasm|malignant gastrointestinal system neoplasm|malignant neoplasm of digestive system|malignant gastrointestinal neoplasm|GI tumor|gastrointestinal system cancer|gastrointestinal tract cancer|cancer of digestive system|digestive system cancer	http://purl.obolibrary.org/obo/MONDO_0002516	A primary or metastatic malignant neoplasm involving any part of the digestive system.	NCIT:C4890|DOID:3119
MONDO:0002517	tenosynovitis of foot and ankle	biolink:Disease	mondo	DOID:312|ICD9:727.06			http://purl.obolibrary.org/obo/MONDO_0002517		DOID:312
MONDO:0002518	gallbladder papillary neoplasm	biolink:Disease	mondo	UMLS:C1333754|DOID:3120|NCIT:C7130		intracystic papillary neoplasm|gall bladder papillary epithelial neoplasm|gallbladder papillomatosis|gallbladder papillary neoplasm	http://purl.obolibrary.org/obo/MONDO_0002518	A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the gallbladder. Intraepithelial neoplasia is present.	UMLS:C1333754|NCIT:C7130|DOID:3120
MONDO:0002519	anus disease	biolink:Disease	mondo	UMLS:C1301262|MESH:D001004|UMLS:C0003462|NCIT:C26695|DOID:3128|UMLS:C0016167|SCTID:32110003		fissure in ano|anal ulcer|anus disease|Ulcer of anus|anal fissure|nontraumatic tear of anus|anal disorder|anus disease or disorder|anal fissure and fistula|disorder of anal region|disorder of anus|disease of anus|anal disease|disease or disorder of anus|disorder of anus|solitary anal ulcer	http://purl.obolibrary.org/obo/MONDO_0002519	A non-neoplastic or neoplastic disorder that affects the anal canal or anal margin. Representative examples of non-neoplastic disorders include hemorrhoids and anal ulcer. Representative examples of neoplastic disorders include carcinoma, lymphoma, and melanoma.	UMLS:C0016167|NCIT:C26695|SNOMEDCT:32110003|UMLS:C0003462|MESH:D001004|UMLS:C1301262|DOID:3128
UBERON:0001705	nail	biolink:AnatomicalEntity	mondo			claw|talon|nail/claw	http://purl.obolibrary.org/obo/UBERON_0001705	A horn-like keratin structure covering the dorsal aspect of the terminal phalanges of fingers and toes[WP].	
UBERON:0001707	nasal cavity	biolink:AnatomicalEntity	mondo			nasal canal|olfactory chamber|cavitas nasalis|olfactory cavity|cavum nasi|olfactory pit|nasal fossa|cavity of nose|nasal pit|cavity of olfactory apparatus|nasal conduit space|cavitas nasi|olfactory chamber cavity	http://purl.obolibrary.org/obo/UBERON_0001707	An anatomical cavity that is part of the olfactory apparatus. This includes the space bounded anteriorly by the nares and posteriorly by the choanae, when these structures are present.	
UBERON:0001701	glossopharyngeal ganglion	biolink:AnatomicalEntity	mondo			ganglion of glosspharyngeal nerve|petrosal ganglion|gIX|ganglion of glossopharyngeal nerve|glossopharyngeal IX ganglion	http://purl.obolibrary.org/obo/UBERON_0001701	The group of neuron cell bodies associated with the ninth cranial nerve.	
UBERON:0001700	geniculate ganglion	biolink:AnatomicalEntity	mondo			ganglion geniculi|internal genu|facial ganglion|gVII|genicular ganglion|facial VII ganglion|ganglion geniculi nervi facialis|geniculate ganglion|ganglion genicularum|geniculate	http://purl.obolibrary.org/obo/UBERON_0001700	the group of sensory neuron cell bodies associated with the facial nerve (seventh cranial nerve)	
UBERON:0001703	neurocranium	biolink:AnatomicalEntity	mondo			brain case|brain box|braincase|brain pan	http://purl.obolibrary.org/obo/UBERON_0001703	Subdivision of skeletal system that surrounds and protects the brain. Includes the skull base, sensory capsules and the central part of the skull roof.	
UBERON:0001709	upper jaw region	biolink:AnatomicalEntity	mondo			upper pharyngeal jaws|palatoquadrate arch|dorsal pharyngeal arch 1|maxillary part of mouth|maxillary part of mouth proper|dorsal mandibular arch|alveolodental arch of bimaxilla	http://purl.obolibrary.org/obo/UBERON_0001709	Subdivision of head that consists of the upper jaw skeletal elements plus associated soft tissue (skin, lips, muscle)[cjm].	
UBERON:0001708	jaw skeleton	biolink:AnatomicalEntity	mondo			pharyngeal arch 1 skeleton|visceral arch 1|anterior splanchnocranium|mandibular arch|mandibular arch skeleton|jaw|jaws|jaw cartilage|oral jaw skeleton	http://purl.obolibrary.org/obo/UBERON_0001708	Subdivision of skeleton which includes upper and lower jaw skeletons.	
UBERON:0001710	lower jaw region	biolink:AnatomicalEntity	mondo			mandibular series|lower part of mouth|mandibular part of mouth	http://purl.obolibrary.org/obo/UBERON_0001710	Subdivision of head that consists of the lower jaw skeletal elements plus associated soft tissue (skin, lips, muscle)[cjm].	
GO:1901192	positive regulation of formation of translation initiation ternary complex	biolink:OntologyClass	mondo			upregulation of translation initiation ternary complex assembly|upregulation of formation of translation initiation ternary complex|activation of translation initiation ternary complex assembly|up-regulation of translation initiation ternary complex assembly|up-regulation of formation of translation initiation ternary complex|up regulation of translation initiation ternary complex assembly|up regulation of formation of translation initiation ternary complex|positive regulation of translation initiation ternary complex assembly|activation of formation of translation initiation ternary complex	http://purl.obolibrary.org/obo/GO_1901192	Any process that activates or increases the frequency, rate or extent of formation of translation initiation ternary complex.	
GO:1901190	regulation of formation of translation initiation ternary complex	biolink:OntologyClass	mondo			regulation of translation initiation ternary complex assembly	http://purl.obolibrary.org/obo/GO_1901190	Any process that modulates the frequency, rate or extent of formation of translation initiation ternary complex.	
GO:1901191	negative regulation of formation of translation initiation ternary complex	biolink:OntologyClass	mondo			down regulation of translation initiation ternary complex assembly|down regulation of formation of translation initiation ternary complex|downregulation of formation of translation initiation ternary complex|downregulation of translation initiation ternary complex assembly|inhibition of formation of translation initiation ternary complex|inhibition of translation initiation ternary complex assembly|down-regulation of translation initiation ternary complex assembly|down-regulation of formation of translation initiation ternary complex|negative regulation of translation initiation ternary complex assembly	http://purl.obolibrary.org/obo/GO_1901191	Any process that stops, prevents or reduces the frequency, rate or extent of formation of translation initiation ternary complex.	
HGNC:8604	PAPSS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8604		
HGNC:8607	PRKN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8607		
UBERON:0001749	parenchyma of parathyroid gland	biolink:AnatomicalEntity	mondo			parathyroid parenchyma|parathyroid gland parenchyma|parenchyma of parathyroid	http://purl.obolibrary.org/obo/UBERON_0001749	A parenchyma that is part of a parathyroid gland [Automatically generated definition].	
CHEBI:48379	isourea	biolink:ChemicalSubstance	mondo			isoureas|isoureas	http://purl.obolibrary.org/obo/CHEBI_48379	A carboximidic acid that is the imidic acid tautomer of urea, H2NC(=NH)OH, and its hydrocarbyl derivatives.	
CHEBI:48378	carboximidic acid	biolink:ChemicalSubstance	mondo			carboximidic acids|carboximidic acid|carboximidic acids	http://purl.obolibrary.org/obo/CHEBI_48378		
UBERON:0001748	capsule of parathyroid gland	biolink:AnatomicalEntity	mondo			parathyroid gland capsule	http://purl.obolibrary.org/obo/UBERON_0001748	The dense and irregular connective tissue capsule surrounding a parathyroid gland.	
UBERON:0001744	lymphoid tissue	biolink:AnatomicalEntity	mondo			lymphocytic tissue|lymphatic tissue	http://purl.obolibrary.org/obo/UBERON_0001744	Portion of connective tissue with various types of white blood cells enmeshed in it, most numerous being the lymphocytes[WP].	
UBERON:0001747	parenchyma of thyroid gland	biolink:AnatomicalEntity	mondo			thyroid follicle parenchyma|thyroid gland parenchyma|parenchyma glandulae thyroideae|parenchyma of thyroid|parenchyma of thyroid follicle|parenchyma of thyroid gland follicle|thyroid parenchyma|thyroid gland follicle parenchyma	http://purl.obolibrary.org/obo/UBERON_0001747	A parenchyma that is part of a thyroid follicle [Automatically generated definition].	
UBERON:0001746	capsule of thyroid gland	biolink:AnatomicalEntity	mondo			fibrous capsule of thyroid gland|capsula fibrosa glandulae thyroideae|thyroid gland capsule|thyroid capsule	http://purl.obolibrary.org/obo/UBERON_0001746		
HGNC:8609	PARN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8609		
CHEBI:48377	imidic acid	biolink:ChemicalSubstance	mondo			imidic acids|imidic acids|imino acids|imidic acid	http://purl.obolibrary.org/obo/CHEBI_48377	Compounds derived from oxoacids RkE(=O)l(OH)m (l =/= 0) by replacing =O by =NR; thus tautomers of amides. In organic chemistry an unspecified imidic acid is generally a carboximidic acid, RC(=NR)(OH).	
CHEBI:48376	carbamimidic acid	biolink:ChemicalSubstance	mondo			HO-C(=NH)-NH2|pseudourea|H2N-C(=NH)-OH|H2N-C(OH)=NH|carbamimic acid|Isoharnstoff|carbonamidimidic acid|carbamimidic acid|isourea	http://purl.obolibrary.org/obo/CHEBI_48376		
UBERON:0013727	notochordal fluid	biolink:AnatomicalEntity	mondo			notochord fluid|portion of notochordal fluid	http://purl.obolibrary.org/obo/UBERON_0013727	Fluid contained within the notochordal canal	
CHEBI:36388	saturated organic heterocyclic parent	biolink:ChemicalSubstance	mondo			saturated heterocyclic parent hydride|saturated heterocyclic parent hydrides|saturated organic heterocyclic parents	http://purl.obolibrary.org/obo/CHEBI_36388		
CHEBI:36389	saturated organic heteromonocyclic parent	biolink:ChemicalSubstance	mondo			saturated heteromonocyclic parent hydride|saturated organic heteromonocyclic parents|saturated heteromonocyclic parent hydrides	http://purl.obolibrary.org/obo/CHEBI_36389		
HGNC:8616	PAX2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8616		
HGNC:8615	PAX1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8615		
HGNC:8618	PAX4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8618		
HGNC:8617	PAX3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8617		
UBERON:0001752	enamel	biolink:AnatomicalEntity	mondo			enameloid|enamel tissue|tooth enamel|enamel of tooth	http://purl.obolibrary.org/obo/UBERON_0001752	A dentine-like hypermineralized substance that covers the tooth tip. Enamel's primary mineral is hydroxylapatite, which is a crystalline calcium phosphate. Unlike dentin and bone, enamel does not contain collagen. Instead, it has two unique classes of proteins called amelogenins and enamelins[WP].	
UBERON:0001751	dentine	biolink:AnatomicalEntity	mondo			dentine of tooth|predentin|dentin	http://purl.obolibrary.org/obo/UBERON_0001751	Collagen-rich odontogenic tissue characteristic of teeth and tooth-like skeletal elements (e.g., odontodes); mature dentine is mineralized and develops from predentine tissue; often (but not always) tubular and acellular.	
UBERON:0001754	dental pulp	biolink:AnatomicalEntity	mondo			pulp of tooth|dental pulp cell|tooth pulp	http://purl.obolibrary.org/obo/UBERON_0001754	The part in the center of a tooth made up of living soft tissue and cells called odontoblasts[WP].	
UBERON:0001753	cementum	biolink:AnatomicalEntity	mondo			bone of attachment|cementum|cementum of tooth|cement|cement of tooth	http://purl.obolibrary.org/obo/UBERON_0001753	Odontoid tissue that is deposited by cementoblasts onto dentine tissue and functions to attach teeth, odontodes and other odontogenic derivatives to bone tissue and the integument.	
UBERON:0001750	lacrimal apparatus	biolink:AnatomicalEntity	mondo			apparatus lacrimalis|nasolacrimal system|lacrimal drainage system|nasolacrimal drainage system|lacrymal system	http://purl.obolibrary.org/obo/UBERON_0001750	A network of orbital structures of the eye that secrete and drain tears from the surface of the eyeball into the nasal cavity; these parts include the lacrimal glands, lacrimal lake, lacrimal ducts, lacrimal canals, lacrimal sacs, nasolacrimal ducts, and lacrimal puncta.	
UBERON:0001737	larynx	biolink:AnatomicalEntity	mondo			Kehlkopf@de	http://purl.obolibrary.org/obo/UBERON_0001737	A continuation of the pharynx that is involved in breathing, sound production, and protecting the trachea against food aspiration.	
UBERON:0001739	laryngeal cartilage	biolink:AnatomicalEntity	mondo			larynx cartilage|cartilage of larynx|cartilagines laryngeales	http://purl.obolibrary.org/obo/UBERON_0001739	The cartilaginous structures that support the larynx.	
UBERON:0001734	palatine uvula	biolink:AnatomicalEntity	mondo			uvula palatina|palatine uvula|uvula of palate|uvula|uvula palatina	http://purl.obolibrary.org/obo/UBERON_0001734	Conic projection from the posterior edge of the middle of the soft palate, composed of connective tissue containing a number of racemose glands, and some muscular fibers.	
UBERON:0001733	soft palate	biolink:AnatomicalEntity	mondo			velum|velum palatinum|palatum molle|muscular palate	http://purl.obolibrary.org/obo/UBERON_0001733	The muscular, non-bony arch-shaped posterior portion of the palate extending from the posterior edge of the hard palate.	
UBERON:0001736	submandibular gland	biolink:AnatomicalEntity	mondo			maxillary gland|submaxillary gland|mandibular gland|glandula submandibularis|submandibular salivary gland|mandibular salivary gland	http://purl.obolibrary.org/obo/UBERON_0001736	Either of the paired compound tubuloalveolar (aka tubuloacinar) major salivary glands composed of both serous and mucous secretory cells and situated beneath the mandible.	
UBERON:0001735	tonsillar ring	biolink:AnatomicalEntity	mondo			Waldeyer's ring|Waldeyer's tonsillar ring|anulus lymphoideus pharyngis|oropharyngeal lymphoid tissue|pharyngeal lymphoid ring|pharyngeal lymphatic ring	http://purl.obolibrary.org/obo/UBERON_0001735	the circular lymphoid tissue formed by the lingual, pharyngeal, and facial tonsils	
CHEBI:48360	amphiprotic solvent	biolink:ChemicalSubstance	mondo			amphiprotic solvent	http://purl.obolibrary.org/obo/CHEBI_48360	Self-ionizing solvent possessing both characteristics of Bronsted acids and bases.	
UBERON:0013720	dartos muscle of labia majora	biolink:AnatomicalEntity	mondo			dartos muliebris|dartos layer of labia	http://purl.obolibrary.org/obo/UBERON_0013720	A dartos muscle that is part of a female reproductive system.	
HGNC:8619	PAX5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8619		
HGNC:8623	PAX9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8623		
HGNC:8622	PAX8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8622		
UBERON:0013718	dartos muscle	biolink:AnatomicalEntity	mondo			tunica dartos|dartos muscle|dartos tunic	http://purl.obolibrary.org/obo/UBERON_0013718	The dartos fascia is a fat-free layer of smooth muscular fiber outside the external spermatic fascia but below the skin. It is a continuation of Scarpa's Fascia which is a membranous layer of the subcutaneous tissue in the abdominal wall.	
HGNC:8624	PAXIP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8624		
UBERON:0013719	dartos muscle of scrotum	biolink:AnatomicalEntity	mondo			dartos layer of scrotum|dartos tunic	http://purl.obolibrary.org/obo/UBERON_0013719	A dartos muscle that is part of a male reproductive system.	
UBERON:0001743	ligament of larynx	biolink:AnatomicalEntity	mondo			laryngeal ligament|larynx ligament	http://purl.obolibrary.org/obo/UBERON_0001743	A ligament that is part of a larynx and connexts the cartilages of the larynx	
UBERON:0001742	epiglottic cartilage	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0001742	The most superior of the laryngeal cartilages, which is found at the root of the tongue and folds back over the entrance to the larynx during swallowing.	
HGNC:8621	PAX7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8621		
HGNC:8620	PAX6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8620		
UBERON:0001727	taste bud	biolink:AnatomicalEntity	mondo			tastebuds|caliculus gustatorius|tastebud|taste buds|taste-bud	http://purl.obolibrary.org/obo/UBERON_0001727	A specialized receptor organ that is a collection of cells spanning the gustatory epithelium.	
CHEBI:48356	protic solvent	biolink:ChemicalSubstance	mondo			protogenic solvent	http://purl.obolibrary.org/obo/CHEBI_48356	A polar solvent that is capable of acting as a hydron (proton) donor.	
UBERON:0001726	papilla of tongue	biolink:AnatomicalEntity	mondo			lingual papilla|tongue papilla	http://purl.obolibrary.org/obo/UBERON_0001726		
UBERON:0001729	oropharynx	biolink:AnatomicalEntity	mondo			pars oralis pharyngis|mesopharynx|oral part of pharynx	http://purl.obolibrary.org/obo/UBERON_0001729	the portion of the pharynx that lies between the soft palate and the upper edge of the epiglottis	
CHEBI:48359	protophilic solvent	biolink:ChemicalSubstance	mondo			hydrogen bond acceptor solvent|HBA solvent|protophilic solvent	http://purl.obolibrary.org/obo/CHEBI_48359	Solvent that is capable of acting as a hydron (proton) acceptor.	
UBERON:0001728	nasopharynx	biolink:AnatomicalEntity	mondo			nasal part of pharynx|Nasenrachenraum|epipharynx|rhinopharynx|pars nasalis pharyngis	http://purl.obolibrary.org/obo/UBERON_0001728	the section of the pharynx that lies above the soft palate	
UBERON:0001723	tongue	biolink:AnatomicalEntity	mondo			glossus	http://purl.obolibrary.org/obo/UBERON_0001723	A muscular organ in the floor of the mouth.	
UBERON_CORE:distally_connected_to	distally connected to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/uberon/core#distally_connected_to	x distally_connected_to y iff the distal part of x is connected to y. i.e. x connected_to y and x proximal_to y.	
UBERON:0001725	cranial synchondrosis	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0001725	The cartilaginous joints of the skull; these include sphenoethmoidal synchondrosis, sphenooccipital synchondrosis, sphenopetrosal synchondrosis, petrooccipital synchondrosis, anterior intraoccipital synchondrosis and posterior intraoccipital synchondrosis.	
UBERON:0001724	sphenoidal sinus	biolink:AnatomicalEntity	mondo			sinus sphenoidalis|sphenoid sinus	http://purl.obolibrary.org/obo/UBERON_0001724	One of the paired paranasal sinuses, located in the body of the sphenoid bone and communicating with the highest meatus of the nasal cavity on the same side[MESH]. The sphenoidal sinuses (or sphenoid) contained within the body of the sphenoid vary in size and shape; owing to the lateral displacement of the intervening septum they are rarely symmetrical. The following are their average measurements: vertical height, 2.2 cm. ; transverse breadth, 2 cm. ; antero-posterior depth, 2.2 cm. [WP,unvetted].	
CHEBI:48355	non-polar solvent	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_48355		
CHEBI:48354	polar solvent	biolink:ChemicalSubstance	mondo			polar solvent|polar solvents	http://purl.obolibrary.org/obo/CHEBI_48354	A solvent that is composed of polar molecules. Polar solvents can dissolve ionic compounds or ionisable covalent compounds.	
UBERON:0013705	fascia of Scarpa	biolink:AnatomicalEntity	mondo			Colles fascia|stratum membranosum telae subcutaneae abdominis|Scarpa's fascia|fascia of Scarpa|membranous layer of superficial fascia of abdomen|membranous layer of subcutaneous tissue of abdomen|deep layer of superficial fascia of abdomen|Colles' fascia|Scarpa's fascia	http://purl.obolibrary.org/obo/UBERON_0013705	The deep layer (fascia of Scarpa) is a layer of the anterior abdominal wall.	
HGNC:8636	PC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8636		
UBERON:0013701	main body axis	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0013701	A principle subdivision of an organism that includes all structures along the primary axis, typically the anterior-posterior axis, from head to tail, including structures of the body proper where present (for example, ribs), but excluding appendages.	
UBERON:0013702	body proper	biolink:AnatomicalEntity	mondo			body|whole body	http://purl.obolibrary.org/obo/UBERON_0013702	The region of the organism associated with the visceral organs.	
UBERON:0013703	integumentary projection	biolink:AnatomicalEntity	mondo			skin projection	http://purl.obolibrary.org/obo/UBERON_0013703	Anatomical projection that is part of the integumentl system.	
UBERON:0013704	notochordal canal	biolink:AnatomicalEntity	mondo			chordal canal	http://purl.obolibrary.org/obo/UBERON_0013704	A tubular passage that extends from the primitive pit into the head process during the early stages of embryonic development in mammals. It perforates the splanchnopleure layer so that the yolk sac and the amnion are connected temporarily.	
CHEBI:36360	phosphorus oxoacids and derivatives	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_36360		
UBERON:0001732	pharyngeal tonsil	biolink:AnatomicalEntity	mondo			adenoid|nasopharyngeal tonsil|tonsilla pharyngealis|Rachenmandel|tonsil of Luschka|tonsilla pharyngea	http://purl.obolibrary.org/obo/UBERON_0001732	the lymph tissue in the roof and posterior wall of the nasopharynx	
UBERON:0001731	cavity of pharynx	biolink:AnatomicalEntity	mondo			pharyngeal cavity|cavitas pharyngealis|lumen of pharynx|cavitas pharyngis	http://purl.obolibrary.org/obo/UBERON_0001731	A anatomical space that is enclosed by a pharynx.	
UBERON:0001716	secondary palate	biolink:AnatomicalEntity	mondo			roof of mouth|definitive palate|palatum|palatum definitivum|palate|palatum secundarium|palatum|oral roof	http://purl.obolibrary.org/obo/UBERON_0001716	The part of the palate formed from the fusion of the two palatine shelves, extensions of the maxillary prominences.	
UBERON:0001715	oculomotor nuclear complex	biolink:AnatomicalEntity	mondo			oculomotor nucleus|nucleus oculomotorius|nucleus of oculomotor nuclear complex|nucleus nervi oculomotorii|oculomotor III nuclear complex|OM|nucleus of third cranial nerve|oculomotor III nucleus|motor nucleus III|third cranial nerve nucleus|oculomotor motornucleus|nucleus of oculomotor nerve|nIII	http://purl.obolibrary.org/obo/UBERON_0001715	Nuclear complex containing subnuclei that give rise to the axons of the occulomotor nerve, both motor and parasympathetic fibers, situated at the midline at the level of the superior colliculus in the midbrain tegmentum (Brodal, Neurological Anatomy, 3rd ed., 1981, pg 533-534).	
UBERON:0001712	upper eyelid	biolink:AnatomicalEntity	mondo			palpebra superior|superior eyelid	http://purl.obolibrary.org/obo/UBERON_0001712		
UBERON:0001711	eyelid	biolink:AnatomicalEntity	mondo			blepharon|palpebra|palpebrae|eye lid|blephara	http://purl.obolibrary.org/obo/UBERON_0001711	A fold of skin that covers and protects part of the eyeball. Examples: upper eyelid, lower eyelid, nictitating membrane	
UBERON:0001714	cranial ganglion	biolink:AnatomicalEntity	mondo			cranial ganglia|cranial ganglion/nerve|ganglion of cranial neural tree organ|presumptive cranial ganglia|cranial nerve ganglion|cranial ganglion part of peripheral nervous system|head ganglion|ganglion of cranial nerve|cranial neural ganglion|cranial ganglion|cranial neural tree organ ganglion	http://purl.obolibrary.org/obo/UBERON_0001714	the groups of nerve cell bodies associated with the twelve cranial nerves	
UBERON:0001713	lower eyelid	biolink:AnatomicalEntity	mondo			palpebra inferior|inferior eyelid	http://purl.obolibrary.org/obo/UBERON_0001713		
GO:0097384	cellular lipid biosynthetic process	biolink:OntologyClass	mondo			cellular lipid synthesis|cellular lipid formation|cellular lipid biosynthesis|cellular lipid anabolism	http://purl.obolibrary.org/obo/GO_0097384	The chemical reactions and pathways resulting in the formation of lipids, as carried out by individual cells.	
UBERON:0013700	axial musculature	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0013700	Musculature of the head and neck, spine, and ribs.	
HGNC:8646	PCBD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8646		
UBERON:0001720	cochlear nucleus	biolink:AnatomicalEntity	mondo			nucleus of cochlear nerve|cochlear VIII nucleus|vestibulocochlear nucleus|cochlear nucleus of acoustic nerve|statoacoustic (VIII) nucleus|cochlear nucleus of eighth cranial nerve	http://purl.obolibrary.org/obo/UBERON_0001720	Any of the nuclei of the cochlear nuclear complex.	
UBERON_CORE:channel_for	channel for	biolink:OntologyClass	mondo			carries	http://purl.obolibrary.org/obo/uberon/core#channel_for		
GO:1903759	obsolete signal transduction involved in regulation of aerobic respiration	biolink:OntologyClass	mondo			signalling pathway involved in regulation of aerobic respiration|signaling cascade involved in regulation of aerobic respiration|signaling pathway involved in regulation of aerobic respiration|signalling cascade involved in regulation of aerobic respiration	http://purl.obolibrary.org/obo/GO_1903759	OBSOLETE. Any signal transduction that is involved in regulation of aerobic respiration.	
GO:0061311	cell surface receptor signaling pathway involved in heart development	biolink:OntologyClass	mondo			cell surface receptor linked signaling pathway involved in heart development|cell surface receptor linked signalling pathway involved in heart development	http://purl.obolibrary.org/obo/GO_0061311	Any series of molecular signals initiated by the binding of a receptor on the surface of a cell to a physiological ligand, which contributes to the progression of the heart over time.	
GO:2000112	regulation of cellular macromolecule biosynthetic process	biolink:OntologyClass	mondo			regulation of cellular macromolecule anabolism|regulation of cellular macromolecule synthesis|regulation of cellular biopolymer biosynthetic process|regulation of cellular macromolecule formation|regulation of cellular macromolecule biosynthesis	http://purl.obolibrary.org/obo/GO_2000112	Any process that modulates the frequency, rate or extent of cellular macromolecule biosynthetic process.	
GO:2000113	negative regulation of cellular macromolecule biosynthetic process	biolink:OntologyClass	mondo			negative regulation of cellular macromolecule formation|negative regulation of cellular macromolecule biosynthesis|negative regulation of cellular macromolecule anabolism|negative regulation of cellular macromolecule synthesis|negative regulation of cellular biopolymer biosynthetic process	http://purl.obolibrary.org/obo/GO_2000113	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular macromolecule biosynthetic process.	
GO:1903771	positive regulation of beta-galactosidase activity	biolink:OntologyClass	mondo			up regulation of beta-D-lactosidase activity|upregulation of trilactase activity|up regulation of beta-D-galactoside galactohydrolase activity|activation of lactozym|activation of lactose hydrolysis|activation of beta-galactosidase activity|upregulation of lactose hydrolysis|upregulation of lactozym|up regulation of maxilact|up regulation of oryzatym|activation of beta-D-lactosidase activity|positive regulation of beta-D-lactosidase activity|activation of S 2107|activation of beta-D-galactoside galactohydrolase activity|upregulation of S 2107|up-regulation of hydrolact|positive regulation of exo-(1->4)-beta-D-galactanase activity|activation of sumiklat|up-regulation of beta-D-galactoside galactohydrolase activity|up-regulation of oryzatym|up-regulation of maxilact|upregulation of sumiklat|positive regulation of lactozym|up regulation of exo-(1->4)-beta-D-galactanase activity|up-regulation of beta-D-galactanase activity|upregulation of beta-galactosidase activity|positive regulation of lactose hydrolysis|up-regulation of beta-lactosidase activity|upregulation of beta-D-lactosidase activity|up regulation of hydrolact|positive regulation of S 2107|up regulation of lactozym|up regulation of lactose hydrolysis|up-regulation of trilactase activity|activation of exo-(1->4)-beta-D-galactanase activity|up-regulation of exo-(1->4)-beta-D-galactanase activity|up regulation of beta-D-galactanase activity|positive regulation of sumiklat|positive regulation of hydrolact|up regulation of beta-lactosidase activity|up regulation of S 2107|activation of beta-D-galactanase activity|positive regulation of beta-D-galactanase activity|upregulation of beta-D-galactoside galactohydrolase activity|activation of maxilact|up-regulation of lactose hydrolysis|up-regulation of lactozym|up regulation of trilactase activity|activation of beta-lactosidase activity|up regulation of sumiklat|activation of oryzatym|activation of trilactase activity|upregulation of maxilact|upregulation of oryzatym|positive regulation of beta-lactosidase activity|positive regulation of trilactase activity|up-regulation of beta-galactosidase activity|upregulation of hydrolact|up-regulation of S 2107|up-regulation of sumiklat|up-regulation of beta-D-lactosidase activity|activation of hydrolact|positive regulation of beta-D-galactoside galactohydrolase activity|upregulation of beta-D-galactanase activity|positive regulation of maxilact|upregulation of exo-(1->4)-beta-D-galactanase activity|upregulation of beta-lactosidase activity|up regulation of beta-galactosidase activity|positive regulation of oryzatym	http://purl.obolibrary.org/obo/GO_1903771	Any process that activates or increases the frequency, rate or extent of beta-galactosidase activity.	
GO:1903770	negative regulation of beta-galactosidase activity	biolink:OntologyClass	mondo			negative regulation of lactozym|down-regulation of lactose hydrolysis|negative regulation of lactose hydrolysis|down regulation of sumiklat|down-regulation of lactozym|down regulation of beta-D-galactanase activity|down regulation of beta-lactosidase activity|down-regulation of S 2107|downregulation of beta-D-galactoside galactohydrolase activity|negative regulation of S 2107|downregulation of hydrolact|down regulation of trilactase activity|downregulation of maxilact|downregulation of oryzatym|down-regulation of sumiklat|negative regulation of sumiklat|down-regulation of beta-galactosidase activity|downregulation of beta-D-galactanase activity|inhibition of lactozym|inhibition of beta-D-galactanase activity|inhibition of lactose hydrolysis|down-regulation of beta-D-lactosidase activity|negative regulation of beta-D-lactosidase activity|inhibition of beta-lactosidase activity|downregulation of beta-lactosidase activity|down regulation of beta-D-galactoside galactohydrolase activity|inhibition of S 2107|inhibition of trilactase activity|downregulation of trilactase activity|down regulation of maxilact|inhibition of sumiklat|downregulation of exo-(1->4)-beta-D-galactanase activity|down regulation of oryzatym|inhibition of hydrolact|down regulation of beta-galactosidase activity|inhibition of beta-D-galactoside galactohydrolase activity|down regulation of beta-D-lactosidase activity|downregulation of lactozym|negative regulation of beta-D-galactoside galactohydrolase activity|downregulation of lactose hydrolysis|down-regulation of beta-D-galactoside galactohydrolase activity|negative regulation of maxilact|down-regulation of maxilact|down-regulation of oryzatym|negative regulation of oryzatym|down regulation of exo-(1->4)-beta-D-galactanase activity|downregulation of beta-galactosidase activity|negative regulation of hydrolact|inhibition of beta-galactosidase activity|down-regulation of hydrolact|downregulation of S 2107|downregulation of beta-D-lactosidase activity|inhibition of beta-D-lactosidase activity|downregulation of sumiklat|down-regulation of beta-D-galactanase activity|down regulation of lactozym|down regulation of lactose hydrolysis|negative regulation of beta-D-galactanase activity|inhibition of exo-(1->4)-beta-D-galactanase activity|inhibition of oryzatym|down regulation of hydrolact|negative regulation of beta-lactosidase activity|down-regulation of beta-lactosidase activity|negative regulation of exo-(1->4)-beta-D-galactanase activity|inhibition of maxilact|down-regulation of exo-(1->4)-beta-D-galactanase activity|negative regulation of trilactase activity|down-regulation of trilactase activity|down regulation of S 2107	http://purl.obolibrary.org/obo/GO_1903770	Any process that stops, prevents or reduces the frequency, rate or extent of beta-galactosidase activity.	
GO:1903779	regulation of cardiac conduction	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1903779	Any process that modulates the frequency, rate or extent of cardiac conduction.	
GO:1903781	positive regulation of cardiac conduction	biolink:OntologyClass	mondo			upregulation of cardiac conduction|up regulation of cardiac conduction|activation of cardiac conduction|up-regulation of cardiac conduction	http://purl.obolibrary.org/obo/GO_1903781	Any process that activates or increases the frequency, rate or extent of cardiac conduction.	
GO:1903780	negative regulation of cardiac conduction	biolink:OntologyClass	mondo			down regulation of cardiac conduction|inhibition of cardiac conduction|down-regulation of cardiac conduction|downregulation of cardiac conduction	http://purl.obolibrary.org/obo/GO_1903780	Any process that stops, prevents or reduces the frequency, rate or extent of cardiac conduction.	
GO:0061337	cardiac conduction	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0061337	Transfer of an organized electrical impulse across the heart to coordinate the contraction of cardiac muscles. The process begins with generation of an action potential (in the sinoatrial node (SA) in humans) and ends with a change in the rate, frequency, or extent of the contraction of the heart muscles.	
NCBITaxon:12637	Dengue virus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_12637		
GO:1903789	regulation of amino acid transmembrane transport	biolink:OntologyClass	mondo			regulation of amino acid membrane transport	http://purl.obolibrary.org/obo/GO_1903789	Any process that modulates the frequency, rate or extent of amino acid transmembrane transport.	
GO:1903788	positive regulation of glutathione biosynthetic process	biolink:OntologyClass	mondo			up regulation of glutathione anabolism|up-regulation of glutathione synthesis|activation of glutathione anabolism|positive regulation of glutathione anabolism|upregulation of glutathione biosynthesis|upregulation of glutathione biosynthetic process|up-regulation of glutathione formation|up regulation of glutathione synthesis|positive regulation of glutathione biosynthesis|activation of glutathione synthesis|positive regulation of glutathione synthesis|upregulation of glutathione anabolism|up regulation of glutathione formation|up regulation of glutathione biosynthetic process|up regulation of glutathione biosynthesis|activation of glutathione formation|positive regulation of glutathione formation|upregulation of glutathione synthesis|up-regulation of glutathione biosynthesis|up-regulation of glutathione biosynthetic process|activation of glutathione biosynthesis|activation of glutathione biosynthetic process|up-regulation of glutathione anabolism|upregulation of glutathione formation	http://purl.obolibrary.org/obo/GO_1903788	Any process that activates or increases the frequency, rate or extent of glutathione biosynthetic process.	
GO:1903787	negative regulation of glutathione biosynthetic process	biolink:OntologyClass	mondo			down regulation of glutathione biosynthetic process|down regulation of glutathione biosynthesis|down regulation of glutathione formation|inhibition of glutathione biosynthetic process|inhibition of glutathione biosynthesis|inhibition of glutathione synthesis|downregulation of glutathione synthesis|down-regulation of glutathione biosynthetic process|negative regulation of glutathione biosynthesis|down-regulation of glutathione biosynthesis|inhibition of glutathione formation|downregulation of glutathione formation|negative regulation of glutathione anabolism|down-regulation of glutathione anabolism|down regulation of glutathione anabolism|negative regulation of glutathione synthesis|down-regulation of glutathione synthesis|downregulation of glutathione biosynthetic process|downregulation of glutathione biosynthesis|inhibition of glutathione anabolism|down regulation of glutathione synthesis|downregulation of glutathione anabolism|negative regulation of glutathione formation|down-regulation of glutathione formation	http://purl.obolibrary.org/obo/GO_1903787	Any process that stops, prevents or reduces the frequency, rate or extent of glutathione biosynthetic process.	
GO:1903786	regulation of glutathione biosynthetic process	biolink:OntologyClass	mondo			regulation of glutathione synthesis|regulation of glutathione formation|regulation of glutathione anabolism|regulation of glutathione biosynthesis	http://purl.obolibrary.org/obo/GO_1903786	Any process that modulates the frequency, rate or extent of glutathione biosynthetic process.	
GO:1903793	positive regulation of anion transport	biolink:OntologyClass	mondo			up regulation of anion transport|activation of anion transport|upregulation of anion transport|up-regulation of anion transport	http://purl.obolibrary.org/obo/GO_1903793	Any process that activates or increases the frequency, rate or extent of anion transport.	
GO:1903792	negative regulation of anion transport	biolink:OntologyClass	mondo			down-regulation of anion transport|down regulation of anion transport|downregulation of anion transport|inhibition of anion transport	http://purl.obolibrary.org/obo/GO_1903792	Any process that stops, prevents or reduces the frequency, rate or extent of anion transport.	
GO:1901137	carbohydrate derivative biosynthetic process	biolink:OntologyClass	mondo			carbohydrate derivative anabolism|carbohydrate derivative synthesis|carbohydrate derivative biosynthesis|carbohydrate derivative formation	http://purl.obolibrary.org/obo/GO_1901137	The chemical reactions and pathways resulting in the formation of carbohydrate derivative.	
GO:1903797	positive regulation of inorganic anion transmembrane transport	biolink:OntologyClass	mondo			up regulation of inorganic anion transmembrane transport|up regulation of transmembrane inorganic anion transport|activation of inorganic anion transmembrane transport|activation of transmembrane inorganic anion transport|positive regulation of transmembrane inorganic anion transport|upregulation of inorganic anion membrane transport|upregulation of inorganic anion transmembrane transport|upregulation of transmembrane inorganic anion transport|positive regulation of inorganic anion membrane transport|up regulation of inorganic anion membrane transport|activation of inorganic anion membrane transport|up-regulation of transmembrane inorganic anion transport|up-regulation of inorganic anion membrane transport|up-regulation of inorganic anion transmembrane transport	http://purl.obolibrary.org/obo/GO_1903797	Any process that activates or increases the frequency, rate or extent of inorganic anion transmembrane transport.	
GO:1903796	negative regulation of inorganic anion transmembrane transport	biolink:OntologyClass	mondo			down regulation of inorganic anion membrane transport|inhibition of inorganic anion membrane transport|negative regulation of inorganic anion membrane transport|down-regulation of inorganic anion membrane transport|negative regulation of transmembrane inorganic anion transport|down-regulation of inorganic anion transmembrane transport|down-regulation of transmembrane inorganic anion transport|down regulation of inorganic anion transmembrane transport|down regulation of transmembrane inorganic anion transport|downregulation of inorganic anion membrane transport|downregulation of inorganic anion transmembrane transport|downregulation of transmembrane inorganic anion transport|inhibition of inorganic anion transmembrane transport|inhibition of transmembrane inorganic anion transport	http://purl.obolibrary.org/obo/GO_1903796	Any process that stops, prevents or reduces the frequency, rate or extent of inorganic anion transmembrane transport.	
GO:1901135	carbohydrate derivative metabolic process	biolink:OntologyClass	mondo			carbohydrate derivative metabolism	http://purl.obolibrary.org/obo/GO_1901135	The chemical reactions and pathways involving carbohydrate derivative.	
GO:1903795	regulation of inorganic anion transmembrane transport	biolink:OntologyClass	mondo			regulation of transmembrane inorganic anion transport|regulation of inorganic anion membrane transport	http://purl.obolibrary.org/obo/GO_1903795	Any process that modulates the frequency, rate or extent of inorganic anion transmembrane transport.	
GO:0097325	melanocyte proliferation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0097325	The multiplication or reproduction of melanocytes, resulting in the expansion of a cell population. A melanocyte is a pigment cell derived from the neural crest. It contains melanin-filled pigment granules, which give a brown to black appearance.	
HGNC:25583	ODAD2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25583		
GO:1901148	gene expression involved in extracellular matrix organization	biolink:OntologyClass	mondo			extracellular matrix protein production|expression of extracellular matrix proteins	http://purl.obolibrary.org/obo/GO_1901148	Any gene expression that is involved in extracellular matrix organization. Gene expression includes both transcription to produce an RNA transcript, and the translation of that mRNA into protein. Protein maturation is included in gene expression when required to form an active form of a product from an inactive precursor form.	
GO:0061370	testosterone biosynthetic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0061370	The chemical reactions and pathways resulting in the formation of testosterone, an androgen having 17beta-hydroxy and 3-oxo groups, together with unsaturation at C-4 C-5.	
MONDO:0002578	botryoid rhabdomyosarcoma	biolink:Disease	mondo	DOID:3255|UMLS:C1306574|NCIT:C9150|SCTID:404052009|ICD9:171.9|GARD:0009398|UMLS:C1306573		botryoid-type embryonal rhabdomyosarcoma|botryoid sarcoma|sarcoma botryoides|botryoid sarcoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0002578	A morphologic variant of embryonal rhabdomyosarcoma arising from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma.	DOID:3255|SNOMEDCT:404052009|UMLS:C1306573|UMLS:C1306574|NCIT:C9150
UBERON:0011191	ophthalmic vein	biolink:AnatomicalEntity	mondo			opthalmic vein|vena ophthalmica	http://purl.obolibrary.org/obo/UBERON_0011191	Ophthalmic veins are veins which drain the eye. More specifically, they can refer to: Superior ophthalmic vein Inferior ophthalmic vein	
HGNC:25568	FANCI	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25568		
MONDO:0002579	orbit embryonal rhabdomyosarcoma	biolink:Disease	mondo	DOID:3258|UMLS:C1335127|NCIT:C6246		embryonal rhabdomyosarcoma of the orbit|embryonal rhabdomyosarcoma of orbit	http://purl.obolibrary.org/obo/MONDO_0002579	A malignant mesenchymal neoplasm that arises from the orbit. It is characterized by the presence of skeletal muscle tissue exhibiting embryonic features.	DOID:3258|NCIT:C6246|UMLS:C1335127
HGNC:25567	ATAD3A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25567		
HGNC:25566	SETD5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25566		
MONDO:0002574	prostate embryonal rhabdomyosarcoma	biolink:Disease	mondo	NCIT:C5525|DOID:3251|UMLS:C1335508		embryonal rhabdomyosarcoma (disease) of prostate gland|embryonal rhabdomyosarcoma of prostate|prostate gland embryonal rhabdomyosarcoma (disease)|prostate embryonal rhabdomyosarcoma|embryonal rhabdomyosarcoma of the prostate	http://purl.obolibrary.org/obo/MONDO_0002574	A malignant mesenchymal neoplasm of the prostate. It is characterized by the presence of skeletal muscle exhibiting embryonic features.	DOID:3251|NCIT:C5525|UMLS:C1335508
MONDO:0002575	obsolete prostate rhabdomyosarcoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002575		
MONDO:0002576	embryonal extrahepatic bile duct rhabdomyosarcoma	biolink:Disease	mondo	DOID:3253|UMLS:C1333505|NCIT:C5847		extrahepatic bile duct embryonal rhabdomyosarcoma (disease)|extrahepatic bile duct embryonal rhabdomyosarcoma|embryonal extrahepatic bile duct rhabdomyosarcoma|embryonal rhabdomyosarcoma (disease) of extrahepatic bile duct|embryonal rhabdomyosarcoma of extrahepatic bile duct|embryonal rhabdomyosarcoma of the extrahepatic bile duct	http://purl.obolibrary.org/obo/MONDO_0002576	An embryonal rhabdomyosarcoma that arises from the extrahepatic bile ducts.	DOID:3253|NCIT:C5847|UMLS:C1333505
MONDO:0002577	extrahepatic bile duct rhabdomyosarcoma	biolink:Disease	mondo	DOID:3254|UMLS:C2064434|NCIT:C5860		rhabdomyosarcoma of the bile duct|extrahepatic bile duct rhabdomyosarcoma|bile duct rhabdomyosarcoma|bile duct rhabdomyosarcoma (disease)|rhabdomyosarcoma of extrahepatic bile duct|extrahepatic bile duct rhabdomyosarcoma (disease)|rhabdomyosarcoma of the extrahepatic bile duct|rhabdomyosarcoma (disease) of extrahepatic bile duct	http://purl.obolibrary.org/obo/MONDO_0002577	A malignant mesenchymal tumor with skeletal muscle differentiation, arising from the extrahepatic bile ducts.	DOID:3254|UMLS:C2064434|NCIT:C5860
MONDO:0002570	high pressure neurological syndrome	biolink:Disease	mondo	DOID:3230|UMLS:C0019537|MESH:D006610			http://purl.obolibrary.org/obo/MONDO_0002570	A syndrome related to increased atmospheric pressure and characterized by tremors, nausea, dizziness, decreased motor and mental performance, and seizures. This condition may occur in those who dive deeply (c. 1000 ft) usually while breathing a mixture of oxygen and helium. The condition is associated with a neuroexcitatory effect of helium.	UMLS:C0019537|MESH:D006610|DOID:3230
MONDO:0002571	primary central nervous system lymphoma	biolink:Disease	mondo	ONCOTREE:PCNSL|ICD9:200.5|COHD:373152|NCIT:C9301|Orphanet:46135|ICD10:C83.3|SCTID:307649006|EFO:1000157|GARD:0009318|MedDRA:10036685|UMLS:C0742472|DOID:3234	ordo_disease	primary CNS lymphoma|lymphoma of central nervous system|central nervous system lymphoma|malignant lymphomas of the CNS|primary brain lymphoma|PCNSL|malignant lymphomas of CNS|primary lymphoma, CNS|microglioma|primary central nervous system lymphoma|CNS lymphoma	http://purl.obolibrary.org/obo/MONDO_0002571	A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis.	SNOMEDCT:307649006|UMLS:C0280803|ORPHA:46135|UMLS:C0742472|MEDDRA:10036685|NCIT:C9301|DOID:3234
UBERON:0035165	posterior surface of prostate	biolink:AnatomicalEntity	mondo			posterior surface of prostate gland|facies posterior (prostatae)|facies posterior prostatae	http://purl.obolibrary.org/obo/UBERON_0035165	The flattened aspect of the prostate with a slight furrow facing the rectum and anus.	
UBERON:0011198	muscle layer of large intestine	biolink:AnatomicalEntity	mondo			muscular layer of large intestine|tunica muscularis intestini crassi|muscularis externa of large intestine|muscular coat of large intestine	http://purl.obolibrary.org/obo/UBERON_0011198	A muscle layer that is part of a large intestine.	
MONDO:0002572	aspiration pneumonitis	biolink:Disease	mondo	DOID:3240|NCIT:C34932|SCTID:155597006|ICD10:J69.0|UMLS:C1761609		aspiration pneumonia|chemical pneumonitis|Mendelson's syndrome	http://purl.obolibrary.org/obo/MONDO_0002572	Inflammation of the lungs due to the inhalation of solid or liquid material.	NCIT:C34932|UMLS:C1761609|SNOMEDCT:155597006|DOID:3240
UBERON:0011197	parathyroid epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011197	An epithelium that is part of a parathyroid gland.	
MONDO:0002573	obsolete pleomorphic rhabdomyosarcoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002573		
MONDO:0014567	glutamate pyruvate transaminase 2 deficiency	biolink:Disease	mondo	Orphanet:477673|OMIM:616281	ordo_disease	mental retardation, autosomal recessive 49; MRT49|MRT49|postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome|GPT2 deficiency|mental retardation, autosomal recessive 49|mental retardation, autosomal recessive type 49	http://purl.obolibrary.org/obo/MONDO_0014567		ORPHA:477673|http://identifiers.org/omim/616281
MONDO:0014566	Charcot-Marie-Tooth disease axonal type 2U	biolink:Disease	mondo	OMIM:616280|UMLS:C4084821|Orphanet:397735|SCTID:765046002|ICD10:G60.0|DOID:0110173	ordo_disease	autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation|MARS Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth neuropathy, type 2U|autosomal dominant Charcot-Marie-Tooth disease type 2U|Charcot-Marie-Tooth disease, axonal, type 2U|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2U|Charcot-Marie-Tooth disease type 2 caused by mutation in MARS|autosomal dominant axonal Charcot-Marie-Tooth disease type 2U|CMT2U|Charcot-Marie-Tooth disease, axonal, type 2U; CMT2U|Charcot-Marie-Tooth neuropathy type 2U	http://purl.obolibrary.org/obo/MONDO_0014566	Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) is a subtype of autosonal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated.	DOID:0110173|SNOMEDCT:765046002|ORPHA:397735|UMLS:C4084821|http://identifiers.org/omim/616280
CL:0001054	CD14-positive monocyte	biolink:Cell	mondo			monocyte	http://purl.obolibrary.org/obo/CL_0001054	A monocyte that expresses CD14 and is negative for the lineage markers CD3, CD19, and CD20.	
MONDO:0014565	cataract 43	biolink:Disease	mondo	OMIM:616279|DOID:0110259|ICD10:Q12.0|UMLS:C4225389		cataract 43|early-onset non-syndromic cataract caused by mutation in UNC45B|UNC45B early-onset non-syndromic cataract|cataract 43; CTRCT43|CTRCT43|cataract type 43	http://purl.obolibrary.org/obo/MONDO_0014565	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the UNC45B gene.	DOID:0110259|http://identifiers.org/omim/616279|UMLS:C4225389
MONDO:0014564	congenital bile acid synthesis defect 5	biolink:Disease	mondo	DOID:0111066|OMIM:616278		CBAS5|ABCD3 congenital bile acid synthesis defect|congenital bile acid synthesis defect caused by mutation in ABCD3|bile acid synthesis defect, congenital, 5; CBAS5|bile acid synthesis defect, congenital, 5|bile acid synthesis defect, congenital, type 5|congenital bile acid synthesis defect type 5	http://purl.obolibrary.org/obo/MONDO_0014564	Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene.	http://identifiers.org/omim/616278|DOID:0111066
CL:0001059	common myeloid progenitor, CD34-positive	biolink:Cell	mondo			common myeloid precursor, CD34-positive|multipotential myeloid stem cell|myeloid stem cell|CMP|colony forming unit granulocyte, erythrocyte, macrophage, and megakaryocyte|CFU-GEMM|CFU-S|pluripotent stem cell (bone marrow)	http://purl.obolibrary.org/obo/CL_0001059	A progenitor cell committed to myeloid lineage, including the megakaryocyte and erythroid lineages. These cells are CD34-positive, and express Gata1, Gata2, C/EBPa, and Pu.1.	
CHEBI:38925	benzopteridine	biolink:ChemicalSubstance	mondo			benzopteridines	http://purl.obolibrary.org/obo/CHEBI_38925		
MONDO:0014569	lethal congenital contracture syndrome 7	biolink:Disease	mondo	UMLS:C4225386|OMIM:616286		LCCS7|CNTNAP1 lethal congenital contracture syndrome|lethal congenital contracture syndrome type 7|lethal congenital contracture syndrome 7|lethal congenital contracture syndrome 7; LCCS7|lethal congenital contracture syndrome caused by mutation in CNTNAP1	http://purl.obolibrary.org/obo/MONDO_0014569	Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the CNTNAP1 gene.	UMLS:C4225386|http://identifiers.org/omim/616286
MONDO:0014568	hereditary spastic paraplegia 73	biolink:Disease	mondo	OMIM:616282|ICD10:G11.4|UMLS:C4225387|DOID:0110818|Orphanet:444099	ordo_disease	autosomal dominant spastic paraplegia 73|SPG73|autosomal dominant spastic paraplegia type 73|hereditary spastic paraplegia type 73|spastic paraplegia 73, autosomal dominant|spastic paraplegia 73, autosomal dominant; SPG73|CPT1C autosomal dominant pure spastic paraplegia|autosomal dominant pure spastic paraplegia caused by mutation in CPT1C	http://purl.obolibrary.org/obo/MONDO_0014568	Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.	UMLS:C4225387|DOID:0110818|http://identifiers.org/omim/616282|ORPHA:444099
HGNC:13586	FBXO7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13586		
MONDO:0014563	mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	biolink:Disease	mondo	OMIM:616277|UMLS:C4225391|GARD:0013019		ECHS1D|short-chain enoyl-CoA hydratase deficiency|mitochondrial short-chain ENOYL-CoA hydratase 1 deficiency; ECHS1D|mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	http://purl.obolibrary.org/obo/MONDO_0014563		http://identifiers.org/omim/616277|UMLS:C4225391
MONDO:0014562	neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	biolink:Disease	mondo	OMIM:616276|UMLS:C4225392|Orphanet:457185|DOID:0070244	ordo_disease	coenzyme Q10 deficiency, primary, type 7|coenzyme Q10 deficiency, primary, 7|COQ10D7|COQ4-related neonatal encephalomyopathy|coenzyme Q10 deficiency, primary, 7; COQ10D7|primary coenzyme Q10 deficiency 7	http://purl.obolibrary.org/obo/MONDO_0014562		ORPHA:457185|http://identifiers.org/omim/616276|DOID:0070244|UMLS:C4225392
GO:2000181	negative regulation of blood vessel morphogenesis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000181	Any process that stops, prevents, or reduces the frequency, rate or extent of blood vessel morphogenesis.	
CHEBI:26948	thiamine	biolink:ChemicalSubstance	mondo			thiamines	http://purl.obolibrary.org/obo/CHEBI_26948		
MONDO:0014561	3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia	biolink:Disease	mondo	Orphanet:445038|UMLS:C4225393|DOID:0110003|EFO:0009014|SCTID:764860006|ICD10:E71.1|OMIM:616271	ordo_disease	MGA7|3-methylglutaconic aciduria type 7|3-methylglutaconic aciduria type VII|3-methylglutaconic aciduria caused by mutation in CLPB|3-METHYLGLUTACONIC aciduria with cataracts, neurologic involvement, and neutropenia|MGCA7|3-Methylglutaconic aciduria, type 7|3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome|CLPB 3-methylglutaconic aciduria|MEGCANN|3-METHYLGLUTACONIC aciduria with cataracts, neurologic involvement, and neutropenia; MEGCANN	http://purl.obolibrary.org/obo/MONDO_0014561	Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the CLPB gene.	ORPHA:445038|http://identifiers.org/omim/616271|SNOMEDCT:764860006|DOID:0110003|UMLS:C4225393
CL:0001053	IgD-negative memory B cell	biolink:Cell	mondo			IgD- memory B cell	http://purl.obolibrary.org/obo/CL_0001053	A memory B cell that lacks expression of surface IgD.	
MONDO:0014560	amelogenesis imperfecta type 1F	biolink:Disease	mondo	OMIM:616270|UMLS:C4225394|ICD10:K00.5|DOID:0110065		AI1F|amelogenesis imperfecta, type IF; AI1F|amelogenesis imperfecta hypoplastic type IF|amelogenesis imperfecta type IF|amelogenesis imperfecta caused by mutation in AMBN|amelogenesis imperfecta, type IF|AMBN amelogenesis imperfecta|amelogenesis imperfecta, hypoplastic type 1F|amelogenesis imperfecta, type 1F	http://purl.obolibrary.org/obo/MONDO_0014560	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMBN gene.	http://identifiers.org/omim/616270|UMLS:C4225394|DOID:0110065
MONDO:0002589	obsolete thymoma type AB	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002589		
MONDO:0002585	breast fibrocystic change, proliferative type	biolink:Disease	mondo	DOID:3274|NCIT:C6940|UMLS:C0334056		proliferative fibrocystic change|fibrocystic disease, proliferative type with atypia|proliferative breast disease|proliferative breast lesion|proliferative type fibrocystic change of breast|proliferative type fibrocystic change of the breast|fibrocystic change, proliferative type with atypia|breast fibrocystic change, proliferative type|benign proliferative breast disease|proliferative fibrocystic change|proliferating lesion of the breast without atypia|proliferating lesion of breast without atypia	http://purl.obolibrary.org/obo/MONDO_0002585	Breast fibrocystic change characterized by the presence of epithelial cell hyperplasia. Epithelial atypia may be present or absent.	NCIT:C6940|UMLS:C0334056|DOID:3274
MONDO:0002586	thymus cancer	biolink:Disease	mondo	DOID:3277|UMLS:C0751552|ICD9:164.0|NCIT:C4962|ICD10:C37|COHD:443380|SCTID:363434003		malignant Thymus tumor|malignant neoplasm of the Thymus|thymus cancer|thymic neoplasm|malignant thymus neoplasm|thymic tumor|malignant Thymus neoplasm|neoplasm of thymus|cancer of thymus|cancer of Thymus|cancer of the Thymus|malignant tumor of Thymus|malignant tumor of the Thymus|Thymus cancer|malignant neoplasm of thymus|malignant neoplasm of Thymus	http://purl.obolibrary.org/obo/MONDO_0002586	A primary or metastatic malignant neoplasm involving the thymus. This category includes malignant thymomas, thymic lymphomas, primary thymic carcinomas, and metastatic carcinomas from other anatomic sites.	UMLS:C0751552|SNOMEDCT:363434003|NCIT:C4962|DOID:3277
MONDO:0002587	encapsulated thymoma	biolink:Disease	mondo	DOID:3278|UMLS:C1333383|NCIT:C7386		encapsulated thymoma	http://purl.obolibrary.org/obo/MONDO_0002587	A thymoma that is confined within the capsule and may display benign or malignant morphologic characteristics.	DOID:3278|NCIT:C7386|UMLS:C1333383
UBERON:0035174	right ear	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0035174	The organ of hearing located on the right side of the head.	
MONDO:0002588	thymoma type A	biolink:Disease	mondo	DOID:3279|ICD10:C37|ICDO:8581/1|UMLS:C1266091|NCIT:C6454|ICD10:D15.0|Orphanet:263310	ordo_histopathological_subtype	spindle cell thymoma|thymoma, medullary|primary thymic epithelial tumor type A|primary thymic epithelial neoplasm type A|medullary thymoma|thymoma type A	http://purl.obolibrary.org/obo/MONDO_0002588	A thymic epithelial neoplasm characterized by the presence of spindle and/or oval neoplastic epithelial cells. Lymphocytic infiltration is minimal or absent. It may be associated with myasthenia gravis or pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. Approximately 20% of the cases occur as stage II or stage III tumors. Type A thymoma generally behaves as a benign tumor and the overall survival is reported to be 100% at 5 and 10 years.	DOID:3279|NCIT:C6454|ORPHA:263310|UMLS:C1266091
GO:0051926	negative regulation of calcium ion transport	biolink:OntologyClass	mondo			down regulation of calcium ion transport|inhibition of calcium ion transport|downregulation of calcium ion transport|negative regulation of calcium transport|down-regulation of calcium ion transport	http://purl.obolibrary.org/obo/GO_0051926	Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
UBERON:0035177	abdominal part of esophagus	biolink:AnatomicalEntity	mondo			abdominal part of oesophagus|t11 segment of esophagus|pars abdominalis (oesophagus)|pars abdominalis oesophageae|T11 part of esophagus|abdominal esophagus	http://purl.obolibrary.org/obo/UBERON_0035177	Clinical esophageal segment composed of smooth muscle. It corresponds to the inferior part of the lower third topographic segment of the esophagus.	
MONDO:0002581	spindle cell rhabdomyosarcoma	biolink:Disease	mondo	SCTID:404055006|DOID:3260|NCIT:C6519|ICD9:171.9|ONCOTREE:SCRMS|ICDO:8912/3|UMLS:C1266134		spindle cell rhabdomyosarcoma (morphologic abnormality)|SCRMS	http://purl.obolibrary.org/obo/MONDO_0002581	An uncommon variant of rhabdomyosarcoma characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck.	NCIT:C6519|UMLS:C1266134|SNOMEDCT:404055006|DOID:3260
MONDO:0002582	subacute leukemia	biolink:Disease	mondo	DOID:3264|ICD9:208.20|ICD9:208.2|SCTID:302855005|UMLS:C0153924			http://purl.obolibrary.org/obo/MONDO_0002582	A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity.	SNOMEDCT:302855005|UMLS:C0153924|DOID:3264
MONDO:0002583	mucinous ovarian cystadenoma	biolink:Disease	mondo	SCTID:119422004|NCIT:C4512|UMLS:C0346172|DOID:3267		benign mucinous cystadenoma of the ovary|benign mucinous cystadenoma of ovary|ovarian mucinous cystadenoma|mucinous cystadenoma of the ovary|mucinous cystadenoma of ovary|benign ovarian mucinous cystadenoma|ovary mucinous cystadenoma	http://purl.obolibrary.org/obo/MONDO_0002583	A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells.	NCIT:C4512|UMLS:C0346172|SNOMEDCT:119422004|DOID:3267
GO:0051924	regulation of calcium ion transport	biolink:OntologyClass	mondo			regulation of calcium transport	http://purl.obolibrary.org/obo/GO_0051924	Any process that modulates the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
UBERON:0011185	gastrointestinal sphincter	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011185	A sphincter muscle that is part of the gastrointestinal system	
MONDO:0002584	obsolete syringomyelia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002584		
HGNC:25576	NAXD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25576		
CHEBI:85234	human blood serum metabolite	biolink:ChemicalSubstance	mondo			human blood serum metabolites	http://purl.obolibrary.org/obo/CHEBI_85234	Any metabolite (endogenous or exogenous) found in human blood serum samples.	
GO:0051928	positive regulation of calcium ion transport	biolink:OntologyClass	mondo			positive regulation of calcium transport|up-regulation of calcium ion transport|up regulation of calcium ion transport|activation of calcium ion transport|stimulation of calcium ion transport|upregulation of calcium ion transport	http://purl.obolibrary.org/obo/GO_0051928	Any process that activates or increases the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
MONDO:0002580	orbit rhabdomyosarcoma	biolink:Disease	mondo	NCIT:C4543|UMLS:C0346347|MESH:C537605|SCTID:254994000|DOID:3259		rhabdomyosarcoma of the orbit|rhabdomyosarcoma of orbit|orbital region rhabdomyosarcoma|rhabdomyosarcoma (disease) of orbital region|orbital region rhabdomyosarcoma (disease)	http://purl.obolibrary.org/obo/MONDO_0002580	A malignant mesenchymal neoplasm with skeletal muscle differentiation that arises from the orbit.	NCIT:C4543|UMLS:C0346347|MESH:C537605|DOID:3259|SNOMEDCT:254994000
UBERON:0011189	lamina propria of large intestine	biolink:AnatomicalEntity	mondo			large intestine lamina propria|lamina propria of mucosa of large intestine|large intestinal lamina propria	http://purl.obolibrary.org/obo/UBERON_0011189	A lamina propria that is part of a large intestine.	
CL:0001066	erythroid progenitor cell, mammalian	biolink:Cell	mondo	BTO:0004911		blast forming unit erythroid|colony forming unit erythroid|erythroid stem cell|burst forming unit erythroid|CFU-E|BFU-E	http://purl.obolibrary.org/obo/CL_0001066	A progenitor cell committed to the erythroid lineage. This cell is ter119-positive but lacks expression of other hematopoietic lineage markers (lin-negative).	
MONDO:0014556	congenital contractures of the limbs and face, hypotonia, and developmental delay	biolink:Disease	mondo	UMLS:C4225398|OMIM:616266|EFO:1001868		CLIFAHDD|congenital contractures of the limbs and face, hypotonia, and developmental delay; CLIFAHDD|congenital contractures of the limbs and face, hypotonia, and developmental delay	http://purl.obolibrary.org/obo/MONDO_0014556		UMLS:C4225398|http://identifiers.org/omim/616266
CL:0001065	innate lymphoid cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0001065	A lymphocyte that lacks characteristic T cell, B cell, myeloid cell, and dendritic cell markers, that functions as part of the innate immune response to produce cytokines and other effector responses.	
MONDO:0014555	peeling skin syndrome type A	biolink:Disease	mondo	ICD10:Q80.8|OMIM:616265|UMLS:C4015729|Orphanet:263548	ordo_clinical_subtype	PSS type A|generalized deciduous skin type A|generalized peeling skin syndrome type A|peeling skin syndrome type 3|non-inflammatory peeling skin syndrome type A|non-inflammatory generalized peeling skin syndrome type A.|peeling skin syndrome 3|peeling skin syndrome 3; PSS3|PSS3	http://purl.obolibrary.org/obo/MONDO_0014555	Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS, a type of ichthyosis, characterized by generalized white scaling and superficial painless peeling of the skin.	UMLS:C4015729|http://identifiers.org/omim/616265|ORPHA:263548
MONDO:0014554	infantile multisystem neurologic-endocrine-pancreatic disease	biolink:Disease	mondo	Orphanet:456312|OMIM:616263|UMLS:C4015728	ordo_disease	neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset|neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset; IMNEPD|IMNEPD	http://purl.obolibrary.org/obo/MONDO_0014554		UMLS:C4015728|http://identifiers.org/omim/616263|ORPHA:456312
CL:0001068	ILC1	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0001068	A group 1 innate lymphoid cell that is non-cytotoxic.	
CL:0001067	group 1 innate lymphoid cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0001067	An innate lymphoid cell that is capable of producing the type 1 cytokine IFN-gamma, but not Th2 or Th17 cell-associated cytokines.	
MONDO:0014553	Tenorio syndrome	biolink:Disease	mondo	UMLS:C4015710|OMIM:616260		Tenorio syndrome|overgrowth, macrocephaly, and intellectual disability syndrome|TENORIO syndrome; TNORS|TNORS	http://purl.obolibrary.org/obo/MONDO_0014553		UMLS:C4015710|http://identifiers.org/omim/616260
MONDO:0014559	progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	biolink:Disease	mondo	OMIM:616269|UMLS:C4225395|Orphanet:457212	ordo_disease	intellectual disability, autosomal recessive type 48|mental retardation, autosomal recessive type 48|mental retardation, autosomal recessive 48|intellectual disability, autosomal recessive 48|MRT48|intellectual disability, autosomal recessive 48; MRT48|mental retardation, autosomal recessive 48; MRT48	http://purl.obolibrary.org/obo/MONDO_0014559		UMLS:C4225395|http://identifiers.org/omim/616269|ORPHA:457212
MONDO:0014558	autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	biolink:Disease	mondo	Orphanet:457193|OMIM:616268|DOID:0070062	ordo_malformation_syndrome	intellectual disability, autosomal dominant 32|autosomal dominant mental retardation 32|mental retardation, autosomal dominant 32|autosomal dominant non-syndromic intellectual disability 32|intellectual disability, autosomal dominant type 32|KAT6A Syndrome|MRD32|mental retardation, autosomal dominant type 32|intellectual disability, autosomal dominant 32; MRD32|mental retardation, autosomal dominant 32; MRD32|autosomal dominant intellectual disability 32	http://purl.obolibrary.org/obo/MONDO_0014558		ORPHA:457193|http://identifiers.org/omim/616268|DOID:0070062
MONDO:0014557	ataxia - oculomotor apraxia type 4	biolink:Disease	mondo	OMIM:616267|UMLS:C4225397|GARD:0013111|EFO:0009016|Orphanet:459033	ordo_disease|gard_rare	ataxia-oculomotor apraxia-4|ataxia - oculomotor apraxia type 4|PNKP oculomotor apraxia or related oculomotor disease|AOA4|ataxia-oculomotor apraxia 4|oculomotor apraxia or related oculomotor disease caused by mutation in PNKP|ataxia-oculomotor apraxia 4; AOA4	http://purl.obolibrary.org/obo/MONDO_0014557	Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene.	UMLS:C4225397|ORPHA:459033|http://identifiers.org/omim/616267
ECTO:9001021	chlorine atom exposure	biolink:OntologyClass	mondo			exposure to chlorine atom	http://purl.obolibrary.org/obo/ECTO_9001021	An exposure to chlorine atom.	
CL:0001060	hematopoietic oligopotent progenitor cell, lineage-negative	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0001060	A hematopoietic oligopotent progenitor cell that has the ability to differentiate into limited cell types but lacks lineage cell markers and self renewal capabilities. Cell lacks hematopoeitic lineage markers.	
CHEBI:73263	cyclooxygenase 3 inhibitor	biolink:ChemicalSubstance	mondo			COX-3 inhibitors|cyclooxygenase 3 inhibitors|cyclooxygenase-3 inhibitor|cyclo-oxygenase 3 inhibitor|cyclooxygenase-3 inhibitors|cyclo-oxygenase 3 inhibitors|COX-3 inhibitor	http://purl.obolibrary.org/obo/CHEBI_73263	A cyclooxygenase inhibitor that interferes with the action of cyclooxygenase 3.	
MONDO:0014552	lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	biolink:Disease	mondo	Orphanet:439897|UMLS:C4015701|OMIM:616258	ordo_malformation_syndrome	Meckel syndrome 12|MKS12|Meckel syndrome 12; MKS12|Meckel syndrome type 12	http://purl.obolibrary.org/obo/MONDO_0014552	Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.	UMLS:C4015701|http://identifiers.org/omim/616258|ORPHA:439897
MONDO:0014551	short stature with nonspecific skeletal abnormalities	biolink:Disease	mondo	UMLS:C4225399|OMIM:616255		short stature with nonspecific skeletal abnormalities; SNSK|short stature with nonspecific skeletal abnormalities|SNSK	http://purl.obolibrary.org/obo/MONDO_0014551		UMLS:C4225399|http://identifiers.org/omim/616255
MONDO:0014550	long QT syndrome 15	biolink:Disease	mondo	UMLS:C4015695|DOID:0110656|ICD10:I45.8|OMIM:616249		long QT syndrome 15; LQT15|LQT15|long QT syndrome caused by mutation in CALM2|CALM2 long QT syndrome|long QT syndrome 15|long QT syndrome type 15	http://purl.obolibrary.org/obo/MONDO_0014550	Any long QT syndrome in which the cause of the disease is a mutation in the CALM2 gene.	DOID:0110656|http://identifiers.org/omim/616249|UMLS:C4015695
MONDO:0002556	microcystic/reticular schwannoma	biolink:Disease	mondo	UMLS:C4054526|NCIT:C5321		microcystic/reticular schwannoma	http://purl.obolibrary.org/obo/MONDO_0002556	The rarest histopathologic subtype of Schwannoma. The reported cases have been located in the gastrointestinal submucosa or subcutaneous tissue. Morphologically it is characterized by the presence of a microcyst-rich network of spindle cells with minimal amount of cytoplasm and Antoni A tissue.	UMLS:C4054526|NCIT:C5321
GO:0051930	regulation of sensory perception of pain	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0051930	Any process that modulates the frequency, rate or extent of the sensory perception of pain, the series of events required for an organism to receive a painful stimulus, convert it to a molecular signal, and recognize and characterize the signal.	
MONDO:0002557	obsolete schwannomatosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002557		
MONDO:0002558	melanotic neurilemmoma	biolink:Disease	mondo	DOID:3205|ICD9:215.8|SCTID:404024000|UMLS:C1306247|NCIT:C6970|ONCOTREE:MSCHW		melanocytic schwannoma|pigmented schwannoma|melanotic schwannoma (morphologic abnormality)|melanotic schwannoma|MSCHW|pigmented neurilemmoma|melanocytic neurilemmoma|melanotic neurinoma	http://purl.obolibrary.org/obo/MONDO_0002558	A rare circumscribed, non-encapsulated and grossly pigmented nerve sheath tumor. It is composed of cells with the immunophenotypic and electron microscopic features of Schwann cells which contain melanosomes and are positive for melanoma markers. It usually involves spinal nerve roots but may occur in other locations. It may be associated with PRKAR1A gene mutation and Carney complex. Malignant behavior has been reported in a significant number of patients.	DOID:3205|SNOMEDCT:404024000|NCIT:C6970|UMLS:C1306247
MONDO:0002559	plexiform schwannoma	biolink:Disease	mondo	DOID:3206|NCIT:C6969|ICD9:215.9|SCTID:404025004|UMLS:C1370659		plexiform schwannoma (morphologic abnormality)|plexiform neurilemmoma|plexiform neurinoma|plexiform schwannoma	http://purl.obolibrary.org/obo/MONDO_0002559	A schwannoma characterized by a plexiform or multinodular growth pattern. It usually arises from the skin or subcutaneous tissues in the extremities, trunk, and head and neck.	DOID:3206|SNOMEDCT:404025004|UMLS:C1370659|NCIT:C6969
MONDO:0002552	vascular myelopathy	biolink:Disease	mondo	UMLS:C0154685|ICD10:G95.1|COHD:136960|SCTID:29774004|ICD9:336.1|DOID:320		vascular myelopathies	http://purl.obolibrary.org/obo/MONDO_0002552		DOID:320|UMLS:C0154685|SNOMEDCT:29774004
MONDO:0002553	cerebellopontine angle tumor	biolink:Disease	mondo	SCTID:126947009|DOID:3200|NCIT:C5414		neoplasm of the C-P angle|neoplasm of C-P angle|tumor of cerebellopontine angle|C-P angle tumor|neoplasm of cerebellar Pontine angle|cerebellar Pontine angle tumor|neoplasm of the cerebellar Pontine angle|tumor of the C-P angle|cerebellopontine angle neoplasm (disease)|neoplasm of the cerebellopontine angle|tumor of C-P angle|cerebellopontine angle neoplasm|cerebellar Pontine angle neoplasm|neoplasm of cerebellopontine angle|cerebellopontine angle tumor|tumor of cerebellar Pontine angle|tumor of the cerebellopontine angle|C-P angle neoplasm|tumor of the cerebellar Pontine angle	http://purl.obolibrary.org/obo/MONDO_0002553	A neoplasm that affects the cerebellopontine angle. Representative examples include vestibular schwannoma and meningioma.	SNOMEDCT:126947009|DOID:3200|NCIT:C5414
GO:0051931	regulation of sensory perception	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0051931	Any process that modulates the frequency, rate or extent of sensory perception, the series of events required for an organism to receive a sensory stimulus, convert it to a molecular signal, and recognize and characterize the signal.	
UBERON:0011171	joint connecting upper and lower jaws	biolink:AnatomicalEntity	mondo			jaw joint|craniomandibular joint	http://purl.obolibrary.org/obo/UBERON_0011171	Synovial joint that articulates bones of upper and lower jaw.	
MONDO:0002554	sympathetic neurilemmoma	biolink:Disease	mondo	DOID:3201|UMLS:C1336543|NCIT:C5421		sympathetic schwannoma	http://purl.obolibrary.org/obo/MONDO_0002554	A benign tumor derived from schwann cells of the peripheral sympathetic nervous system, including the sympathetic plexus.	DOID:3201|NCIT:C5421|UMLS:C1336543
MONDO:0002555	trigeminal schwannoma	biolink:Disease	mondo	ICD9:215.9|UMLS:C0349582|DOID:3202|NCIT:C4655|SCTID:277185000		fifth cranial nerve neurilemmoma|neurilemmoma of the fifth cranial nerve|neurilemmoma of trigeminal nerve|neurilemmoma of fifth cranial nerve|neurilemmoma of the trigeminal nerve|trigeminal nerve schwannoma|fifth cranial nerve schwannoma|schwannoma of trigeminal nerve|schwannoma of the trigeminal nerve|schwannoma of the fifth cranial nerve|schwannoma of fifth cranial nerve|trigeminal neurilemmoma|trigeminal schwannoma	http://purl.obolibrary.org/obo/MONDO_0002555	A schwannoma that involves the trigeminal nerve.	DOID:3202|UMLS:C0349582|SNOMEDCT:277185000|NCIT:C4655
GO:0051937	catecholamine transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0051937	The directed movement of catecholamines, a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine.	
MONDO:0002550	hypoglossal nerve neoplasm	biolink:Disease	mondo	ICD9:239.7|UMLS:C1263903|DOID:3198|NCIT:C5830|SCTID:126978008		hypoglossal nerve neoplasm (disease)|neoplasm of hypoglossal nerve|tumor of the hypoglossal nerve|hypoglossal nerve neoplasm|hypoglossal nerve tumor|XIIth cranial nerve tumors|hypoglossal nerve tumors|twelfth cranial nerve neoplasm|neoplasm of the twelfth cranial nerve|neoplasm of twelfth cranial nerve|twelfth cranial nerve tumors|twelfth cranial nerve tumor|neoplasm of the hypoglossal nerve|twelfth cranial nerve neoplasms|tumor of hypoglossal nerve|tumor of the twelfth cranial nerve|hypoglossal nerve neoplasms|tumor of twelfth cranial nerve|XIIth cranial nerve neoplasms	http://purl.obolibrary.org/obo/MONDO_0002550	A neoplasm involving a hypoglossal nerve.	DOID:3198|UMLS:C1263903|NCIT:C5830|SNOMEDCT:126978008
MONDO:0014539	focal segmental glomerulosclerosis 9	biolink:Disease	mondo	OMIM:616220|UMLS:C4015555|ICD10:N04.1|DOID:0111134		FSGS9|focal segmental glomerulosclerosis 9; FSGS9|glomerulosclerosis, focal segmental, 9|focal segmental glomerulosclerosis 9|focal segmental glomerulosclerosis type 9|focal segmental glomerulosclerosis caused by mutation in CRB2|CRB2 focal segmental glomerulosclerosis	http://purl.obolibrary.org/obo/MONDO_0014539	Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene.	DOID:0111134|UMLS:C4015555|http://identifiers.org/omim/616220
MONDO:0002551	c-P angle neurinoma	biolink:Disease	mondo	DOID:3199|UMLS:C1332905|NCIT:C5413		cerebellar Pontine angle neurinoma|cerebellopontine angle neurinoma|cerebellopontine angle schwannoma	http://purl.obolibrary.org/obo/MONDO_0002551		UMLS:C1332905|DOID:3199|NCIT:C5413
MONDO:0014545	progressive myoclonic epilepsy type 8	biolink:Disease	mondo	Orphanet:424027|ICD10:G40.3|OMIM:616230|UMLS:C4015619|DOID:0111451	ordo_disease	epilepsy, progressive myoclonic, 8; EPM8|epilepsy, progressive myoclonic, 8|progressive myoclonic epilepsy due to CERS1 deficiency|CERS1 progressive myoclonic epilepsy|epilepsy, progressive myoclonic, type 8|EPM8|PME type 8|progressive myoclonus epilepsy type 8|progressive myoclonic epilepsy caused by mutation in CERS1	http://purl.obolibrary.org/obo/MONDO_0014545	Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene.	UMLS:C4015619|DOID:0111451|http://identifiers.org/omim/616230|ORPHA:424027
MONDO:0014544	osteogenesis imperfecta type 16	biolink:Disease	mondo	UMLS:C4015610|OMIM:616229|DOID:0110345|ICD10:Q78.0		OI16|osteogenesis imperfecta, type XVI; OI16|osteogenesis imperfecta type XVI|chromosome 11P11.2 deletion syndrome, 91.3-Kb|chromosome 11p11.2 deletion syndrome 91.3-KB|osteogenesis imperfecta, type 16|OI, type 16|osteogenesis imperfecta, type XVI	http://purl.obolibrary.org/obo/MONDO_0014544	An osteogenesis imperfecta that has material basis in contiguous gene deletion on chromosome 11p11.	UMLS:C4015610|DOID:0110345|http://identifiers.org/omim/616229
MONDO:0014543	congenital myasthenic syndrome 14	biolink:Disease	mondo	UMLS:C4015597|DOID:0110669|OMIM:616228		myasthenic syndrome, congenital, type 14|ALG2 congenital myasthenic syndromes with glycosylation defect|congenital myasthenic syndromes with glycosylation defect caused by mutation in ALG2|congenital myasthenic syndrome type 14|myasthenic syndrome, congenital, 14|CMSTA3|congenital myasthenic syndrome 14, with tubular aggregates|myasthenic syndrome, congenital, with tubular aggregates 3|congenital myasthenic syndrome with tubular aggregates 3|myasthenic syndrome, congenital, 14; CMS14|CMS14	http://purl.obolibrary.org/obo/MONDO_0014543	Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 gene.	UMLS:C4015597|DOID:0110669|http://identifiers.org/omim/616228
MONDO:0014542	congenital myasthenic syndrome 15	biolink:Disease	mondo	DOID:0110658|UMLS:C4015596|OMIM:616227		myasthenic syndrome, congenital, 15|congenital myasthenic syndrome type 15|ALG14 congenital myasthenic syndrome|congenital myasthenic syndrome 15 without tubular aggregates|congenital myasthenic syndrome caused by mutation in ALG14|myasthenic syndrome, congenital, 15; CMS15|myasthenic syndrome, congenital, type 15|myasthenic syndrome, congenital, without tubular aggregates|CMS15	http://purl.obolibrary.org/obo/MONDO_0014542	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the ALG14 gene.	UMLS:C4015596|DOID:0110658|http://identifiers.org/omim/616227
MONDO:0014549	lethal congenital contracture syndrome 6	biolink:Disease	mondo	UMLS:C4015686|OMIM:616248		lethal congenital contracture syndrome type 6|LCCS6|lethal congenital contracture syndrome 6; LCCS6|lethal congenital contracture syndrome 6|lethal congenital contracture syndrome caused by mutation in ZBTB42|ZBTB42 lethal congenital contracture syndrome	http://purl.obolibrary.org/obo/MONDO_0014549	Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ZBTB42 gene.	UMLS:C4015686|http://identifiers.org/omim/616248
MONDO:0014548	long QT syndrome 14	biolink:Disease	mondo	ICD10:I45.8|OMIM:616247|UMLS:C4015671|DOID:0110655		long QT syndrome caused by mutation in CALM1|CALM1 long QT syndrome|long QT syndrome 14|long QT syndrome type 14|LQT14|long QT syndrome 14; LQT14	http://purl.obolibrary.org/obo/MONDO_0014548	Any long QT syndrome in which the cause of the disease is a mutation in the CALM1 gene.	UMLS:C4015671|DOID:0110655|http://identifiers.org/omim/616247
MONDO:0014547	combined oxidative phosphorylation defect type 24	biolink:Disease	mondo	UMLS:C4015643|Orphanet:444458|ICD10:G71.3|EFO:0009034|DOID:0111485|OMIM:616239	ordo_disease	NARS2 combined oxidative phosphorylation deficiency|COXPD24|combined oxidative phosphorylation deficiency type 24|combined oxidative phosphorylation deficiency caused by mutation in NARS2|combined oxidative phosphorylation deficiency 24|combined oxidative phosphorylation deficiency 24; COXPD24	http://purl.obolibrary.org/obo/MONDO_0014547	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the NARS2 gene.	UMLS:C4015643|DOID:0111485|http://identifiers.org/omim/616239|ORPHA:444458
MONDO:0014546	myopathy due to calsequestrin and SERCA1 protein overload	biolink:Disease	mondo	SCTID:724095006|Orphanet:88635|ICD10:G71.8|OMIM:616231|UMLS:C4510368|UMLS:C4015624	ordo_disease	myopathy, vacuolar, with CASQ1 aggregates; VMCQA|myopathy, vacuolar, with CASQ1 aggregates|VMCQA	http://purl.obolibrary.org/obo/MONDO_0014546	Myopathy due to calsequestrin and SERCA1 protein overload is characterised by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms.	UMLS:C4015624|http://identifiers.org/omim/616231|UMLS:C4510368|SNOMEDCT:724095006|ORPHA:88635
MONDO:0014541	motor developmental delay due to 14q32.2 paternally expressed gene defect	biolink:Disease	mondo	NCIT:C120409|DOID:0111713|OMIM:616222|UMLS:C4015558|Orphanet:254516	ordo_malformation_syndrome	mUPD14 syndrome|uniparental disomy, maternal, chromosome 14|maternal uniparental disomy chromosome 14 syndrome|TEMPLE syndrome	http://purl.obolibrary.org/obo/MONDO_0014541	A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father.	UMLS:C4015558|NCIT:C120409|ORPHA:254516|DOID:0111713|http://identifiers.org/omim/616222
MONDO:0002549	schwannoma of twelfth cranial nerve	biolink:Disease	mondo	NCIT:C5434|UMLS:C1335928|DOID:3197		schwannoma of the twelfth cranial nerve|hypoglossal nerve schwannoma|schwannoma of twelfth cranial nerve|schwannoma of the hypoglossal nerve|hypoglossal nerve neurilemmoma|schwannoma of hypoglossal nerve|neurilemmoma of the twelfth cranial nerve|hypoglossal schwannoma|neurilemmoma of twelfth cranial nerve|twelfth cranial nerve neurilemmoma|neurilemmoma of the hypoglossal nerve|neurilemmoma of hypoglossal nerve|hypoglossal neurilemmoma|twelfth cranial nerve schwannoma	http://purl.obolibrary.org/obo/MONDO_0002549	A schwannoma that involves the hypoglossal nerve.	UMLS:C1335928|DOID:3197|NCIT:C5434
NCBITaxon:552467	Cryptococcus gattii VGIII	organism taxon	mondo	GC_ID:1		Filobasidiella neoformans var. bacillispora|Filobasidiella bacillispora|Cryptococcus bacillisporus|Cryptococcus bacillisporus VGIII	http://purl.obolibrary.org/obo/NCBITaxon_552467		
MONDO:0014540	amelogenesis imperfecta type 1H	biolink:Disease	mondo	ICD10:K00.5|DOID:0110064|UMLS:C4015557|OMIM:616221		amelogenesis imperfecta, type IH|amelogenesis imperfecta, type 1H|amelogenesis imperfecta type IH|amelogenesis imperfecta, type IH; AI1H|ITGB6 amelogenesis imperfecta|amelogenesis imperfecta caused by mutation in ITGB6|AI1H	http://purl.obolibrary.org/obo/MONDO_0014540	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ITGB6 gene.	UMLS:C4015557|DOID:0110064|http://identifiers.org/omim/616221
SO:0000578	snoRNA_encoding	biolink:SequenceFeature	mondo			snoRNA encoding	http://purl.obolibrary.org/obo/SO_0000578	A region that can be transcribed into a small nucleolar RNA (snoRNA).	
CL:0001030	CD117-positive common myeloid progenitor OR CD217-positive common lymphoid progenitor	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0001030		
MONDO:0002567	tracheal disease	biolink:Disease	mondo	SCTID:47125007|DOID:3225|UMLS:C0040580|ICD10:S12.8|NCIT:C35079|MESH:D014133		disease or disorder of trachea|disease of trachea|trachea disease or disorder|disorder of trachea|trachea disease|tracheal disorder|disorder of trachea	http://purl.obolibrary.org/obo/MONDO_0002567	A non-neoplastic or neoplastic disorder that affects the trachea. Representative examples of non-neoplastic disorders include congenital malformations and infection. Representative examples of neoplastic disorders include carcinoma and lymphoma.	SNOMEDCT:47125007|DOID:3225|UMLS:C0040580|MESH:D014133|NCIT:C35079
CHEBI:26932	tetrapyrrole	biolink:ChemicalSubstance	mondo			a tetrapyrrole|tetrapyrroles|tetrapyrrole	http://purl.obolibrary.org/obo/CHEBI_26932	A natural pigment containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next.	
NCBITaxon:12663	Feline coronavirus	organism taxon	mondo	GC_ID:1		Feline enteric coronavirus FECV|FECV|Feline enteric coronavirus	http://purl.obolibrary.org/obo/NCBITaxon_12663		
MONDO:0002568	tracheal stenosis	biolink:Disease	mondo	DOID:3227|ICD9:519.19|UMLS:C0040583|MESH:D014135|SCTID:11296007		stenosis of trachea	http://purl.obolibrary.org/obo/MONDO_0002568	Narrowing of the lumen of the trachea.	SNOMEDCT:11296007|DOID:3227|UMLS:C0040583|MESH:D014135|NCIT:C78646
SO:0000571	miRNA_encoding	biolink:SequenceFeature	mondo			miRNA encoding	http://purl.obolibrary.org/obo/SO_0000571	A region that can be transcribed into a microRNA (miRNA).	
HGNC:25557	PRMT7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25557		
MONDO:0002569	gastric dilatation	biolink:Disease	mondo	UMLS:C0038353|MESH:D013271|DOID:3229		stomach dilatation	http://purl.obolibrary.org/obo/MONDO_0002569	Abnormal distention of the stomach due to accumulation of gastric contents that may reach 10 to 15 liters. Gastric dilatation may be the result of gastric outlet obstruction; ileus; gastroparesis; or denervation.	MESH:D013271|UMLS:C0038353|DOID:3229
MONDO:0002563	jejunal somatostatinoma	biolink:Disease	mondo	NCIT:C5787|UMLS:C1334297|DOID:3216		Somatosatinoma of the jejunum|Somatosatinoma of jejunum|jejunal somatostatin-producing neuroendocrine tumor|Delta cell tumor of the jejunum|jejunal somatostatin-producing NET|Delta cell tumor of jejunum|jejunal somatostatin producing tumor|jejunal delta cell somatostatin producing tumor	http://purl.obolibrary.org/obo/MONDO_0002563	A somatostatin-producing neuroendocrine tumor that arises from the jejunum. It is characterized by the presence of tubulo-glandular structures.	DOID:3216|NCIT:C5787|UMLS:C1334297
MONDO:0002564	jejunal neoplasm	biolink:Disease	mondo	MESH:D007580|NCIT:C8401|UMLS:C0022374|SCTID:126834003|DOID:3218		jejunal tumor|jejunum tumor|jejunum neoplasm (disease)|neoplasm of the jejunum|tumor of jejunum|jejunum neoplasm|tumor of the jejunum|neoplasm of jejunum	http://purl.obolibrary.org/obo/MONDO_0002564	A benign or malignant neoplasm that affects the wall of the jejunum. Representative examples include adenoma, carcinoma, and lymphoma.	NCIT:C8401|DOID:3218|MESH:D007580|UMLS:C0022374|SNOMEDCT:126834003
MONDO:0002565	myelitis	biolink:Disease	mondo	ICD9:323.9|COHD:138965|EFO:1001472|DOID:322|MESH:D009187|SCTID:41370002|NCIT:C26832|GARD:0007130|UMLS:C0026975	gard_rare	spinal cord inflammation|inflammation of spinal cord	http://purl.obolibrary.org/obo/MONDO_0002565	An inflammatory process affecting the spinal cord. Causes include viral infections, autoimmune disorders, vascular disorders, and toxic agents. Symptoms include weakness, paresthesia, sensory loss, pain, and incontinence.	DOID:322|UMLS:C0026975|SNOMEDCT:41370002|NCIT:C26832|MESH:D009187
NCBITaxon:2697049	Severe acute respiratory syndrome coronavirus 2	organism taxon	mondo	GC_ID:1		SARS-CoV-2|COVID-19|COVID-19 virus|COVID19|Wuhan seafood market pneumonia virus|Wuhan coronavirus|Human coronavirus 2019|SARS-CoV2|SARS-2|SARS2|2019-nCoV|HCoV-19	http://purl.obolibrary.org/obo/NCBITaxon_2697049		
MONDO:0002566	obsolete complex regional pain syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002566		
UBERON:0011166	patellofemoral joint	biolink:AnatomicalEntity	mondo			femorapatellar joint|femoropatellar joint|patello femoral joint	http://purl.obolibrary.org/obo/UBERON_0011166		
MONDO:0002560	obsolete junctional epidermolysis bullosa	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002560		
UBERON:0035198	superficial lymphatic vessel	biolink:AnatomicalEntity	mondo			superficial lymph vessel	http://purl.obolibrary.org/obo/UBERON_0035198	The tubules that carry lymph throughout the body that are just beneath the surface of the skin.	
MONDO:0002561	lysosomal storage disease	biolink:Disease	mondo	UMLS:CN205533|DOID:3211|SCTID:23585005|Orphanet:68366|NCIT:C61250|MESH:D016464|UMLS:C0085078	ordo_group_of_disorders	lysosomal disorder|lysosomal storage disorder|lysosome disease|inborn lysosomal enzyme disorder|disorder of lysosomal enzymes|phospholipidosis|disorder of lysosomal enzyme|lysosomal storage metabolism disorder|lysosome disorder|lysosomal disease	http://purl.obolibrary.org/obo/MONDO_0002561	A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins.	ORPHA:68366|DOID:3211|NCIT:C61250|UMLS:CN205533|SNOMEDCT:23585005|MESH:D016464|UMLS:C0085078
MONDO:0014529	cerebellar-facial-dental syndrome	biolink:Disease	mondo	UMLS:CN221667|Orphanet:444072|EFO:0009030|OMIM:616202|ICD10:Q87.0|UMLS:C4015495	ordo_malformation_syndrome	CFDS|cerebellar-facial-dental syndrome|Cerebellofaciodental syndrome|CEREBELLOFACIODENTAL syndrome|CEREBELLOFACIODENTAL syndrome; CFDS	http://purl.obolibrary.org/obo/MONDO_0014529		UMLS:CN221667|UMLS:C4015495|http://identifiers.org/omim/616202|ORPHA:444072
UBERON:0011164	neurocranium bone	biolink:AnatomicalEntity	mondo			chondrocranium bone	http://purl.obolibrary.org/obo/UBERON_0011164	A bone that is part of a neurocranium [Automatically generated definition].	
MONDO:0014528	chronic atrial and intestinal dysrhythmia	biolink:Disease	mondo	OMIM:616201|GARD:0012281|DOID:0060339|Orphanet:435988|UMLS:C4015474|SCTID:720507006|ICD10:K59.8	ordo_disease	chronic atrial and intestinal dysrhythmia; caid|Cohesinopathy affecting heart and gut rhythm|caid syndrome|caid|chronic atrial intestinal dysrhythmia syndrome|chronic atrial dysrhythmia-intestinal motility disorder|chronic atrial and intestinal dysrhythmia syndrome|chronic atrial and intestinal dysrhythmia	http://purl.obolibrary.org/obo/MONDO_0014528	A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has material basis in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO).	UMLS:C4015474|DOID:0060339|ORPHA:435988|http://identifiers.org/omim/616201|SNOMEDCT:720507006
MONDO:0002562	demyelinating disease	biolink:Disease	mondo	DOID:3213|ICD10:G35.G37|NCIT:C34527|MESH:D003711|UMLS:C0011303		demyelinating disorder	http://purl.obolibrary.org/obo/MONDO_0002562	A broad group of disorders that affect the myelin sheaths that cover the neurons. Myelin sheathes cover neuronal axons in the central and peripheral nervous system and function to increase travelling impulse speeds. Disruption of this sheath impairs neuronal transmission and can result in disorders such as multiple sclerosis and Guillain-Barre syndrome, among others.	NCIT:C34527|DOID:3213|UMLS:C0011303|MESH:D003711
MONDO:0014534	lissencephaly 6 with microcephaly	biolink:Disease	mondo	OMIM:616212		LIS6|lissencephaly 6 with microcephaly; LIS6|Microlissencephaly caused by mutation in KATNB1|microlissencephaly caused by mutation in KATNB1|KATNB1 microlissencephaly|KATNB1 Microlissencephaly|lissencephaly 6 with microcephaly	http://purl.obolibrary.org/obo/MONDO_0014534	Any microlissencephaly in which the cause of the disease is a mutation in the KATNB1 gene.	http://identifiers.org/omim/616212
MONDO:0014533	developmental and epileptic encephalopathy, 28	biolink:Disease	mondo	DOID:0080452|UMLS:C4015519|OMIM:616211		epileptic encephalopathy, early infantile, 28|DEE28|epileptic encephalopathy, early infantile, type 28|early infantile epileptic encephalopathy caused by mutation in WWOX|WWOX early infantile epileptic encephalopathy|EIEE28|epileptic encephalopathy, early infantile, 28; EIEE28	http://purl.obolibrary.org/obo/MONDO_0014533	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the WWOX gene.	DOID:0080452|UMLS:C4015519|http://identifiers.org/omim/616211
MONDO:0014532	autosomal dominant mitochondrial myopathy with exercise intolerance	biolink:Disease	mondo	Orphanet:457050|OMIM:616209|ICD10:G71.3|UMLS:C4015513	ordo_disease	myopathy, isolated mitochondrial, autosomal dominant|myopathy, isolated mitochondrial, autosomal dominant; IMMD|IMMD	http://purl.obolibrary.org/obo/MONDO_0014532		UMLS:C4015513|http://identifiers.org/omim/616209|ORPHA:457050
MONDO:0014531	amyotrohpic lateral sclerosis type 22	biolink:Disease	mondo	UMLS:C4015512|DOID:0060355|OMIM:616208		amyotrohpic lateral sclerosis 22 with or without frontotemporal dementia|ALS22|amyotrophic lateral sclerosis 22|amyotrophic lateral sclerosis type 22|TUBA4A amyotrophic lateral sclerosis|amyotrophic lateral sclerosis 22 with or without frontotemporal dementia|amyotrophic lateral sclerosis caused by mutation in TUBA4A|ALS 22|amyotrophic lateral sclerosis 22 with or without frontotemporal dementia; ALS22	http://purl.obolibrary.org/obo/MONDO_0014531	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TUBA4A gene.	UMLS:C4015512|DOID:0060355|http://identifiers.org/omim/616208
MONDO:0014538	fibrosis of extraocular muscles, congenital, 5	biolink:Disease	mondo	OMIM:616219|UMLS:C4015552		fibrosis of extraocular muscles, congenital, 5; CFEOM5|congenital fibrosis of extraocular muscles caused by mutation in COL25A1|COL25A1 congenital fibrosis of extraocular muscles|CFEOM5|fibrosis of extraocular muscles, congenital, type 5|fibrosis of extraocular muscles, congenital, 5	http://purl.obolibrary.org/obo/MONDO_0014538	Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the COL25A1 gene.	UMLS:C4015552|http://identifiers.org/omim/616219
MONDO:0014537	nephronophthisis 19	biolink:Disease	mondo	UMLS:C4015542|OMIM:616217|DOID:0111126		NPHP19|nephronophthisis 19|DCDC2 nephronophthisis (disease)|nephronophthisis (disease) caused by mutation in DCDC2|nephronophthisis 19; NPHP19|nephronophthisis type 19	http://purl.obolibrary.org/obo/MONDO_0014537	Any nephronophthisis in which the cause of the disease is a mutation in the DCDC2 gene.	DOID:0111126|UMLS:C4015542|http://identifiers.org/omim/616217
MONDO:0014536	thrombocytopenia 5	biolink:Disease	mondo	OMIM:616216|UMLS:C4015537		ETV6 thrombocytopenia|thrombocytopenia 5|thrombocytopenia caused by mutation in ETV6|thrombocytopenia 5; THC5|thrombocytopenia, autosomal dominant, 5|THC5|thrombocytopenia type 5|thrombocytopenia 5 with increased susceptibility to malignancy	http://purl.obolibrary.org/obo/MONDO_0014536	Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene.	UMLS:C4015537|http://identifiers.org/omim/616216
MONDO:0014535	hyperproinsulinemia	biolink:Disease	mondo	MESH:C562776|SCTID:237613005|ICD9:250.80|OMIM:616214|UMLS:C0342283		hyperproinsulinemia	http://purl.obolibrary.org/obo/MONDO_0014535		UMLS:C0342283|SNOMEDCT:237613005|http://identifiers.org/omim/616214|MESH:C562776
MONDO:0014530	autosomal recessive spinocerebellar ataxia 18	biolink:Disease	mondo	OMIM:616204|Orphanet:363432|DOID:0080042|ICD10:G11.1|UMLS:C4015505	ordo_clinical_subtype	GRID2 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome|spinocerebellar ataxia, autosomal recessive type 18|autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency|autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRID2|spinocerebellar ataxia, autosomal recessive 18; SCAR18|autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRID2|autosomal recessive spinocerebellar ataxia type 18|spinocerebellar ataxia, autosomal recessive 18|autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency|SCAR18|GRID2 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome	http://purl.obolibrary.org/obo/MONDO_0014530	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.	ORPHA:363432|UMLS:C4015505|http://identifiers.org/omim/616204|DOID:0080042
GO:0051952	regulation of amine transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0051952	Any process that modulates the frequency, rate or extent of the directed movement of amines into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
GO:1903708	positive regulation of hemopoiesis	biolink:OntologyClass	mondo			up-regulation of blood cell biosynthesis|up-regulation of blood cell formation|up regulation of hematopoiesis|positive regulation of haemopoiesis|up-regulation of hemopoiesis|activation of blood cell formation|positive regulation of hematopoiesis|up regulation of blood cell biosynthesis|up regulation of haemopoiesis|activation of hematopoiesis|up regulation of hemopoiesis|activation of blood cell biosynthesis|positive regulation of blood cell biosynthesis|activation of hemopoiesis|up-regulation of haemopoiesis|upregulation of hematopoiesis|activation of haemopoiesis|upregulation of blood cell formation|upregulation of blood cell biosynthesis|upregulation of hemopoiesis|positive regulation of blood cell formation|upregulation of haemopoiesis|up regulation of blood cell formation|up-regulation of hematopoiesis	http://purl.obolibrary.org/obo/GO_1903708	Any process that activates or increases the frequency, rate or extent of hemopoiesis.	
HGNC:25523	CCDC88A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25523		
GO:1903707	negative regulation of hemopoiesis	biolink:OntologyClass	mondo			inhibition of hemopoiesis|downregulation of blood cell biosynthesis|downregulation of hemopoiesis|downregulation of blood cell formation|down regulation of blood cell formation|downregulation of haemopoiesis|inhibition of blood cell formation|negative regulation of hematopoiesis|down-regulation of hematopoiesis|down-regulation of blood cell formation|negative regulation of blood cell formation|down-regulation of blood cell biosynthesis|negative regulation of blood cell biosynthesis|down-regulation of hemopoiesis|down regulation of haemopoiesis|down regulation of hematopoiesis|inhibition of haemopoiesis|down regulation of blood cell biosynthesis|down-regulation of haemopoiesis|inhibition of hematopoiesis|down regulation of hemopoiesis|negative regulation of haemopoiesis|downregulation of hematopoiesis|inhibition of blood cell biosynthesis	http://purl.obolibrary.org/obo/GO_1903707	Any process that stops, prevents or reduces the frequency, rate or extent of hemopoiesis.	
HGNC:25522	WRAP53	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25522		
GO:1903706	regulation of hemopoiesis	biolink:OntologyClass	mondo			regulation of blood cell formation|regulation of haemopoiesis|regulation of hematopoiesis|regulation of blood cell biosynthesis	http://purl.obolibrary.org/obo/GO_1903706	Any process that modulates the frequency, rate or extent of hemopoiesis.	
GO:0051955	regulation of amino acid transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0051955	Any process that modulates the frequency, rate or extent of the directed movement of amino acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
GO:0051956	negative regulation of amino acid transport	biolink:OntologyClass	mondo			down-regulation of amino acid transport|negative regulation of amino acid transmembrane transport|downregulation of amino acid transport|down regulation of amino acid transport|inhibition of amino acid transport	http://purl.obolibrary.org/obo/GO_0051956	Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of amino acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
GO:0051953	negative regulation of amine transport	biolink:OntologyClass	mondo			down-regulation of amine transport|down regulation of amine transport|downregulation of amine transport|inhibition of amine transport	http://purl.obolibrary.org/obo/GO_0051953	Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of amines into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
GO:0051954	positive regulation of amine transport	biolink:OntologyClass	mondo			up regulation of amine transport|activation of amine transport|stimulation of amine transport|upregulation of amine transport|up-regulation of amine transport	http://purl.obolibrary.org/obo/GO_0051954	Any process that activates, maintains or increases the frequency, rate or extent of the directed movement of amines into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
GO:0051957	positive regulation of amino acid transport	biolink:OntologyClass	mondo			upregulation of amino acid transport|up regulation of amino acid transport|stimulation of amino acid transport|positive regulation of amino acid transmembrane transport|up-regulation of amino acid transport|activation of amino acid transport	http://purl.obolibrary.org/obo/GO_0051957	Any process that activates, maintains or increases the frequency, rate or extent of the directed movement of amino acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
UBERON:0035128	manus cartilage element	biolink:AnatomicalEntity	mondo			hand cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0035128		
UBERON:0035127	suture of hard palate	biolink:AnatomicalEntity	mondo			palatine suture	http://purl.obolibrary.org/obo/UBERON_0035127	Any of the sutures of the hard palate	
UBERON:0035118	material entity in digestive tract	biolink:AnatomicalEntity	mondo			digestive tract contents|ingested material entity	http://purl.obolibrary.org/obo/UBERON_0035118	Any material entity that is located in the digestive tract. This includes undigested food and liquid as well as unexcreted waste products. It also includes other entities such as ingested stones used to aid digestion. Any microbial cells or cell populations are also included.	
CL:0001012	CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0001012		
GO:2000145	regulation of cell motility	biolink:OntologyClass	mondo			regulation of cell movement|regulation of cell locomotion|regulation of movement of a cell	http://purl.obolibrary.org/obo/GO_2000145	Any process that modulates the frequency, rate or extent of cell motility.	
GO:2000146	negative regulation of cell motility	biolink:OntologyClass	mondo			negative regulation of movement of a cell|negative regulation of cell locomotion|negative regulation of cell movement	http://purl.obolibrary.org/obo/GO_2000146	Any process that stops, prevents, or reduces the frequency, rate or extent of cell motility.	
GO:2000147	positive regulation of cell motility	biolink:OntologyClass	mondo			positive regulation of cell locomotion|positive regulation of movement of a cell|positive regulation of cell movement	http://purl.obolibrary.org/obo/GO_2000147	Any process that activates or increases the frequency, rate or extent of cell motility.	
HGNC:25519	ANO10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25519		
GO:0051962	positive regulation of nervous system development	biolink:OntologyClass	mondo			up regulation of nervous system development|stimulation of nervous system development|up-regulation of nervous system development|activation of nervous system development|upregulation of nervous system development	http://purl.obolibrary.org/obo/GO_0051962	Any process that activates, maintains or increases the frequency, rate or extent of nervous system development, the origin and formation of nervous tissue.	
NCBITaxon:10066	Muridae	organism taxon	mondo	PMID:15371245|GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_10066		
HGNC:25535	TMEM38B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25535		
GO:0051960	regulation of nervous system development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0051960	Any process that modulates the frequency, rate or extent of nervous system development, the origin and formation of nervous tissue.	
GO:0051961	negative regulation of nervous system development	biolink:OntologyClass	mondo			downregulation of nervous system development|down regulation of nervous system development|inhibition of nervous system development|down-regulation of nervous system development	http://purl.obolibrary.org/obo/GO_0051961	Any process that stops, prevents, or reduces the frequency, rate or extent of nervous system development, the origin and formation of nervous tissue.	
UBERON:0035131	auditory ossicle cartilage element	biolink:AnatomicalEntity	mondo			ossicle cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0035131		
GO:1903715	regulation of aerobic respiration	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1903715	Any process that modulates the frequency, rate or extent of aerobic respiration.	
HGNC:25538	DARS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25538		
UBERON:0035130	auditory ossicle endochondral element	biolink:AnatomicalEntity	mondo			auditory skeletal element|ossicle element of ear|middle ear ossicle element|ossicular chain element|middle ear skeletal element|ossicle element|ear ossicles element|ossicle element of inner ear|ear ossicle element	http://purl.obolibrary.org/obo/UBERON_0035130		
UBERON:0035132	auditory ossicle pre-cartilage element	biolink:AnatomicalEntity	mondo			ossicle pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0035132		
GO:0051969	regulation of transmission of nerve impulse	biolink:OntologyClass	mondo			regulation of conduction of nerve impulse	http://purl.obolibrary.org/obo/GO_0051969	Any process that modulates the frequency, rate or extent of transmission of a nerve impulse, the sequential electrochemical polarization and depolarization that travels across the membrane of a neuron in response to stimulation.	
HGNC:25532	MTPAP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25532		
CL:0001021	CD34-positive, CD38-positive common lymphoid progenitor	biolink:Cell	mondo			CD10-positive common lymphocyte progenitor|CD10-positive common lymphoid precursor|CD10-positive common lymphocyte precursor	http://purl.obolibrary.org/obo/CL_0001021	A common lymphoid progenitor that is CD10-positive, CD45RA-positive, CD34-positive and CD38-positive.	
MONDO:0014599	intellectual disability, autosomal dominant 34	biolink:Disease	mondo	DOID:0070064|OMIM:616351		MRD34|intellectual disability, autosomal dominant 34|autosomal dominant mental retardation 34|mental retardation, autosomal dominant type 34|COL4A3BP autosomal dominant non-syndromic intellectual disability|intellectual disability, autosomal dominant type 34|autosomal dominant intellectual disability 34|mental retardation, autosomal dominant 34; MRD34|autosomal dominant non-syndromic intellectual disability 34|autosomal dominant non-syndromic intellectual disability caused by mutation in COL4A3BP|mental retardation, autosomal dominant 34|intellectual disability, autosomal dominant 34; MRD34	http://purl.obolibrary.org/obo/MONDO_0014599	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the COL4A3BP gene.	http://identifiers.org/omim/616351|DOID:0070064
UBERON:0035129	pes cartilage element	biolink:AnatomicalEntity	mondo			foot cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0035129		
MONDO:0014598	developmental and epileptic encephalopathy, 31	biolink:Disease	mondo	DOID:0080437|UMLS:C4225357|OMIM:616346		EIEE31|epileptic encephalopathy, early infantile, 31|epileptic encephalopathy, early infantile, type 31|early infantile epileptic encephalopathy caused by mutation in DNM1|epileptic encephalopathy, early infantile, 31; EIEE31|DNM1 early infantile epileptic encephalopathy|DEE31	http://purl.obolibrary.org/obo/MONDO_0014598	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DNM1 gene.	http://identifiers.org/omim/616346|DOID:0080437|UMLS:C4225357
CL:0001024	CD34-positive, CD38-negative hematopoietic stem cell	biolink:Cell	mondo	CALOHA:TS-0448|FMA:86475		CD133-positive hematopoietic stem cell	http://purl.obolibrary.org/obo/CL_0001024	CD133-positive hematopoietic stem cell is a hematopoietic stem cell that is CD34-positive, CD90-positive, and CD133-positive.	
MONDO:0014597	immunodeficiency 39	biolink:Disease	mondo	UMLS:C4225358|OMIM:616345		IMD39|immunodeficiency type 39|primary immunodeficiency disease caused by mutation in IRF7|IRF7 primary immunodeficiency disease|immunodeficiency 39; IMD39|immunodeficiency 39	http://purl.obolibrary.org/obo/MONDO_0014597	Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IRF7 gene.	http://identifiers.org/omim/616345|UMLS:C4225358
CL:0001023	Kit-positive, CD34-positive common myeloid progenitor	biolink:Cell	mondo			CD117-positive common myeloid precursor	http://purl.obolibrary.org/obo/CL_0001023	A common myeloid progenitor that is Kit-positive and CD34-positive, Il7ra-negative, and is SCA1-low and Fcgr2-low and Fcgr3-low.	
CL:0001026	CD34-positive, CD38-positive common myeloid progenitor	biolink:Cell	mondo			CD71-positive common myeloid precursor	http://purl.obolibrary.org/obo/CL_0001026	A common myeloid progenitor that is CD34-positive, CD38-positive, IL3ra-low, CD10-negative, CD7-negative, CD45RA-negative, and IL-5Ralpha-negative.	
GO:2000155	positive regulation of cilium-dependent cell motility	biolink:OntologyClass	mondo			positive regulation of ciliary cell motility	http://purl.obolibrary.org/obo/GO_2000155	Any process that activates or increases the frequency, rate or extent of cilium-dependent cell motility.	
CL:0001025	Kit-positive, Sca1-positive common lymphoid progenitor	biolink:Cell	mondo			CD217-positive common lymphoid precursor|CD217-positive common lymphocyte progenitor|CD217-positive common lymphocyte precursor	http://purl.obolibrary.org/obo/CL_0001025	A common lymphoid progenitor that is Kit-low, FLT3-positive, IL7ralpha-positive, and SCA1-low.	
CL:0001028	CD7-positive lymphoid progenitor cell	biolink:Cell	mondo			CD7-positive lymphoid precursor	http://purl.obolibrary.org/obo/CL_0001028	CD7-positive lymphoid progenitor cell is a lymphoid progenitor cell that is CD34-positive, CD7-positive and is CD45RA-negative.	
HGNC:13556	IFT122	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13556		
CL:0001027	CD7-negative lymphoid progenitor cell	biolink:Cell	mondo			CD7-negative lymphoid precursor	http://purl.obolibrary.org/obo/CL_0001027	CD7-negative lymphoid progenitor cell is a lymphoid progenitor cell that is CD34-positive, CD7-negative and CD45RA-negative.	
MONDO:0014592	microcephaly and chorioretinopathy 3	biolink:Disease	mondo	OMIM:616335|DOID:0080107|UMLS:C4225362		microcephaly and chorioretinopathy type 3|microcephaly and chorioretinopathy, autosomal recessive, 3; MCCRP3|TUBGCP4 microcephaly and chorioretinopathy|microcephaly and chorioretinopathy, autosomal recessive, 3|microcephaly and chorioretinopathy caused by mutation in TUBGCP4|microcephaly and chorioretinopathy, autosomal recessive, type 3|MCCRP3	http://purl.obolibrary.org/obo/MONDO_0014592	Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene.	DOID:0080107|UMLS:C4225362|http://identifiers.org/omim/616335
MONDO:0014591	autosomal dominant Robinow syndrome 2	biolink:Disease	mondo	DOID:0060765|OMIM:616331|ICD10:Q87.1|UMLS:C4225363		autosomal dominant Robinow syndrome caused by mutation in DVL1|Robinow syndrome, autosomal dominant 2|DRS2|DVL1 autosomal dominant Robinow syndrome|Robinow syndrome, autosomal dominant type 2|Robinow syndrome, autosomal dominant 2; DRS2|autosomal dominant Robinow syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0014591	Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the DVL1 gene.	UMLS:C4225363|http://identifiers.org/omim/616331|DOID:0060765
MONDO:0014590	congenital myasthenic syndrome 18	biolink:Disease	mondo	DOID:0110683|OMIM:616330|UMLS:C4225364		CMS18|myasthenic syndrome, congenital, 18, with intellectual disability and ataxia|congenital myasthenic syndrome caused by mutation in SNAP25|SNAP25 congenital myasthenic syndrome|myasthenic syndrome, congenital, type 18|myasthenic syndrome, congenital, 18; CMS18|congenital myasthenic syndrome type 18|myasthenic syndrome, congenital, 18	http://purl.obolibrary.org/obo/MONDO_0014590	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SNAP25 gene.	UMLS:C4225364|DOID:0110683|http://identifiers.org/omim/616330
MONDO:0014596	lissencephaly 7 with cerebellar hypoplasia	biolink:Disease	mondo	OMIM:616342|UMLS:C4225359		lissencephaly 7 with cerebellar hypoplasia; LIS7|LIS7|lissencephaly 7 with cerebellar hypoplasia	http://purl.obolibrary.org/obo/MONDO_0014596		UMLS:C4225359|http://identifiers.org/omim/616342
MONDO:0014595	developmental and epileptic encephalopathy, 30	biolink:Disease	mondo	UMLS:C4225360|OMIM:616341|DOID:0080465		epileptic encephalopathy, early infantile, 30; EIEE30|DEE30|early infantile epileptic encephalopathy caused by mutation in SIK1|EIEE30|SIK1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 30|epileptic encephalopathy, early infantile, type 30	http://purl.obolibrary.org/obo/MONDO_0014595	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SIK1 gene.	DOID:0080465|UMLS:C4225360|http://identifiers.org/omim/616341
MONDO:0014594	autosomal dominant nonsyndromic deafness 67	biolink:Disease	mondo	OMIM:616340|ICD10:H90.3|UMLS:C4084712|DOID:0110588		deafness, autosomal dominant 67|deafness, autosomal dominant 67; DFNA67|autosomal dominant deafness 67|autosomal dominant nonsyndromic deafness type 67|deafness, autosomal dominant type 67|OSBPL2 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness caused by mutation in OSBPL2|DFNA67	http://purl.obolibrary.org/obo/MONDO_0014594	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the OSBPL2 gene.	DOID:0110588|UMLS:C4084712|http://identifiers.org/omim/616340
GO:0036385	nucleoid DNA packaging	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0036385	Any process in which DNA and associated proteins are formed into a compact, orderly structure within a nucleoid.	
MONDO:0014593	developmental and epileptic encephalopathy, 29	biolink:Disease	mondo	OMIM:616339|DOID:0080451|UMLS:C4225361		EIEE29|epileptic encephalopathy, early infantile, 29; EIEE29|epileptic encephalopathy, early infantile, 29|epileptic encephalopathy, early infantile, type 29|DEE29|AARS early infantile epileptic encephalopathy|early infantile epileptic encephalopathy caused by mutation in AARS	http://purl.obolibrary.org/obo/MONDO_0014593	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AARS gene.	DOID:0080451|UMLS:C4225361|http://identifiers.org/omim/616339
GO:0051971	positive regulation of transmission of nerve impulse	biolink:OntologyClass	mondo			up-regulation of transmission of nerve impulse|up regulation of transmission of nerve impulse|activation of transmission of nerve impulse|positive regulation of conduction of nerve impulse|stimulation of transmission of nerve impulse|upregulation of transmission of nerve impulse	http://purl.obolibrary.org/obo/GO_0051971	Any process that activates, maintains or increases the frequency, rate or extent of transmission of a nerve impulse, the sequential electrochemical polarization and depolarization that travels across the membrane of a neuron in response to stimulation.	
GO:1903729	regulation of plasma membrane organization	biolink:OntologyClass	mondo			regulation of plasma membrane organisation|regulation of plasma membrane organization and biogenesis	http://purl.obolibrary.org/obo/GO_1903729	Any process that modulates the frequency, rate or extent of plasma membrane organization.	
MONDO:0002596	obsolete chordoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002596		
HGNC:25507	VAC14	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25507		
MONDO:0002597	notochordal tumor	biolink:Disease	mondo	DOID:3303|UMLS:C1335069|NCIT:C7063		notochordal cancer|tumor of notochord|malignant neoplasm of notochord|notochord neoplasm|notochord cancer|neoplasm of notochord|malignant notochord neoplasm|notochord tumor|cancer of notochord|notochordal neoplasm|notochordal tumor	http://purl.obolibrary.org/obo/MONDO_0002597	A bone tumor arising from the remnants of the fetal notochord. This category includes the chordoma and benign notochordal cell tumor.	UMLS:C1335069|NCIT:C7063|DOID:3303
GO:1903727	positive regulation of phospholipid metabolic process	biolink:OntologyClass	mondo			up-regulation of phospholipid metabolic process|activation of phospholipid metabolic process|upregulation of phospholipid metabolism|upregulation of phospholipid metabolic process|up-regulation of phospholipid metabolism|up regulation of phospholipid metabolic process|up regulation of phospholipid metabolism|activation of phospholipid metabolism|positive regulation of phospholipid metabolism	http://purl.obolibrary.org/obo/GO_1903727	Any process that activates or increases the frequency, rate or extent of phospholipid metabolic process.	
GO:1903726	negative regulation of phospholipid metabolic process	biolink:OntologyClass	mondo			downregulation of phospholipid metabolic process|down-regulation of phospholipid metabolism|negative regulation of phospholipid metabolism|down regulation of phospholipid metabolic process|inhibition of phospholipid metabolic process|down regulation of phospholipid metabolism|down-regulation of phospholipid metabolic process|inhibition of phospholipid metabolism|downregulation of phospholipid metabolism	http://purl.obolibrary.org/obo/GO_1903726	Any process that stops, prevents or reduces the frequency, rate or extent of phospholipid metabolic process.	
MONDO:0002598	germinoma (disease)	biolink:Disease	mondo	NCIT:C3753|UMLS:C0206660|HP:0100620|MESH:D018237|ICDO:9064/3|DOID:3304|ONCOTREE:GMN		germinoma	http://purl.obolibrary.org/obo/MONDO_0002598	A malignant germ cell tumor arising in the central nervous system. It is characterized by the presence of primitive, large malignant germ cells and lymphocytes.	MESH:D018237|NCIT:C3753|DOID:3304|UMLS:C0206660
MONDO:0002599	teratocarcinoma	biolink:Disease	mondo	UMLS:C0206664|ICDO:9081/3|MESH:D018243|DOID:3305|NCIT:C3756		mixed embryonal carcinoma and teratoma|teratocarcinoma|teratocarcinoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0002599	A germ cell tumor characterized by the presence of an embryonal carcinoma component and a teratoma component.	MESH:D018243|NCIT:C3756|UMLS:C0206664|DOID:3305
GO:1903725	regulation of phospholipid metabolic process	biolink:OntologyClass	mondo			regulation of phospholipid metabolism	http://purl.obolibrary.org/obo/GO_1903725	Any process that modulates the frequency, rate or extent of phospholipid metabolic process.	
MONDO:0002592	invasive malignant thymoma	biolink:Disease	mondo	DOID:3283|NCIT:C7904|UMLS:C0278846		malignant thymoma, invasive|thymoma malignant invasive|invasive malignant thymoma|infiltrating thymoma	http://purl.obolibrary.org/obo/MONDO_0002592	A malignant thymoma that extends beyond the capsule and infiltrates the surrounding tissues.	UMLS:C0278846|DOID:3283|NCIT:C7904
MONDO:0002593	obsolete thymic carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002593		
MONDO:0002594	monkeypox	biolink:Disease	mondo	SCTID:359814004|ICD10:B04|DOID:3292|GARD:0010722|NCIT:C128421|UMLS:C0276180|ICD9:136.8|MESH:D045908|ICD9:059.01	gard_rare	infections, Monkeypox virus|Monkeypox virus infection	http://purl.obolibrary.org/obo/MONDO_0002594	An infection that is caused by an Orthopoxvirus, which is transmitted by primates or rodents, and which is characterized by a prodromal syndrome of fever, chills, headache, myalgia, and lymphedema; initial symptoms are followed by a generalized papular rash that typically progresses from vesiculation through crusting over the course of two weeks.	SNOMEDCT:359814004|MESH:D045908|NCIT:C128421|UMLS:C0276180|DOID:3292
MONDO:0002595	vaccinia	biolink:Disease	mondo	UMLS:C0042214|ICD9:999.0|MESH:D014615|SCTID:111852003|DOID:3298			http://purl.obolibrary.org/obo/MONDO_0002595	The cutaneous and occasional systemic reactions associated with vaccination using smallpox (variola) vaccine.	MESH:D014615|SNOMEDCT:111852003|UMLS:C0042214|DOID:3298
MONDO:0002590	combined thymoma	biolink:Disease	mondo	DOID:3281			http://purl.obolibrary.org/obo/MONDO_0002590		DOID:3281
MONDO:0002591	obsolete dendritic cell thymoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002591		
MONDO:0014589	maturity-onset diabetes of the young type 13	biolink:Disease	mondo	OMIM:616329|DOID:0111110|UMLS:C4225365		MODY13|MODY type 13|KCNJ11 maturity-onset diabetes of the young (disease)|maturity-onset diabetes of the young, type 13; MODY13|MODY, type 13|maturity-onset diabetes of the young (disease) caused by mutation in KCNJ11|maturity-onset diabetes of the young, type 13	http://purl.obolibrary.org/obo/MONDO_0014589	Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KCNJ11 gene.	http://identifiers.org/omim/616329|DOID:0111110|UMLS:C4225365
MONDO:0014588	congenital myasthenic syndrome 11	biolink:Disease	mondo	DOID:0110675|MESH:C563831|OMIM:616326		Cms Ie|congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency|CMS11|congenital myasthenic syndrome 1e|CMS1E|congenital myasthenic syndrome type 11|CMS Ie|congenital myasthenic syndrome caused by mutation in RAPSN|myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency; CMS11|RAPSN congenital myasthenic syndrome|myasthenic syndrome, congenital, Ie, formerly|Cms Ie, formerly|myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency|myasthenic syndrome, congenital, Ie	http://purl.obolibrary.org/obo/MONDO_0014588	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the RAPSN gene.	DOID:0110675|http://identifiers.org/omim/616326|MESH:C563831
MONDO:0014587	congenital myasthenic syndrome 9	biolink:Disease	mondo	OMIM:616325|DOID:0110670|UMLS:C4225368		MUSK congenital myasthenic syndrome|CMS9|congenital myasthenic syndrome caused by mutation in MUSK|myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency|congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency|myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency; CMS9|congenital myasthenic syndrome type 9	http://purl.obolibrary.org/obo/MONDO_0014587	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the MUSK gene.	DOID:0110670|http://identifiers.org/omim/616325|UMLS:C4225368
GO:0036378	calcitriol biosynthetic process from calciol	biolink:OntologyClass	mondo			calcitriol biosynthesis from calciol|1alpha,25-dihydroxycholecalciferol biosynthesis|1alpha,25-dihydroxyvitamin D3 biosynthesis|1alpha,25(OH)2D3 biosynthesis|vitamin D3 activation	http://purl.obolibrary.org/obo/GO_0036378	Conversion of vitamin D3 from its largely inactive form (calciol, also called cholecalciferol) into a hormonally active form (calcitriol). Conversion requires 25-hydroxylation of calciol in the liver to form calcidiol, and subsequent 1,alpha-hydroxylation of calcidiol in the kidney to form calcitriol.	
MONDO:0014586	congenital myasthenic syndrome 4B	biolink:Disease	mondo	UMLS:C4225369|OMIM:616324|DOID:0110677		CMS4B|congenital myasthenic syndrome type 4B|congenital myasthenic syndrome 4B fast-channel|myasthenic syndrome, congenital, 4B, FAST-channel|myasthenic syndrome, congenital, 4B, FAST-channel; CMS4B	http://purl.obolibrary.org/obo/MONDO_0014586	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.	DOID:0110677|http://identifiers.org/omim/616324|UMLS:C4225369
MONDO:0014581	congenital myasthenic syndrome 2A	biolink:Disease	mondo	GARD:0009895|OMIM:616313|DOID:0110681|UMLS:C4225374		myasthenic syndrome, congenital, postsynaptic slow-channel|myasthenic syndrome, congenital, 2A, slow-channel|myasthenic syndrome, congenital, type IIa|CMS2A|congenital myasthenic syndrome 2A slow-channel|myasthenic syndrome, congenital, slow-channel|congenital myasthenic syndrome type 2A|slow channel congenital myasthenic syndrome|myasthenic syndrome, congenital, 2A, slow-channel; CMS2A|SCCMS|CMS2A|CMS IIa	http://purl.obolibrary.org/obo/MONDO_0014581	A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous mutation in the CHRNB1 gene on chromosome 17p13.	UMLS:C4225374|DOID:0110681|http://identifiers.org/omim/616313
GO:0061307	cardiac neural crest cell differentiation involved in heart development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0061307	The process in which a relatively unspecialized cell acquires specialized features of a cardiac neural crest cell that will migrate to the heart and contribute to its development. Cardiac neural crest cells are specialized cells that migrate toward the heart from the third, fourth and sixth pharyngeal arches.	
MONDO:0014580	intellectual disability, autosomal dominant 33	biolink:Disease	mondo	DOID:0070063|OMIM:616311		mental retardation, autosomal dominant type 33|DPP6 autosomal dominant non-syndromic intellectual disability|mental retardation, autosomal dominant 33; MRD33|intellectual disability, autosomal dominant 33|autosomal dominant mental retardation 33|autosomal dominant intellectual disability 33|mental retardation, autosomal dominant 33|autosomal dominant non-syndromic intellectual disability 33|intellectual disability, autosomal dominant type 33|autosomal dominant non-syndromic intellectual disability caused by mutation in DPP6|MRD33|intellectual disability, autosomal dominant 33; MRD33	http://purl.obolibrary.org/obo/MONDO_0014580	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DPP6 gene.	DOID:0070063|http://identifiers.org/omim/616311
GO:0061308	cardiac neural crest cell development involved in heart development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0061308	The process aimed at the progression of a cardiac neural crest cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell that contributes to the development of the heart.	
MONDO:0014585	congenital myasthenic syndrome 3C	biolink:Disease	mondo	OMIM:616323|DOID:0110664|UMLS:C4225370		CMS3C|congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency|myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency; CMS3C|congenital myasthenic syndrome type 3C|myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency	http://purl.obolibrary.org/obo/MONDO_0014585	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has material basis in compound heterozygous mutation in the CHRND gene on chromosome 2q37.	http://identifiers.org/omim/616323|UMLS:C4225370|DOID:0110664
MONDO:0014584	congenital myasthenic syndrome 3B	biolink:Disease	mondo	OMIM:616322|DOID:0110665|UMLS:C4225371		congenital myasthenic syndrome 3B, fast-channel|CMS3B|myasthenic syndrome, congenital, 3B, FAST-channel|congenital myasthenic syndrome type 3B|myasthenic syndrome, congenital, 3B, FAST-channel; CMS3B	http://purl.obolibrary.org/obo/MONDO_0014584	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has material basis in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37.	http://identifiers.org/omim/616322|UMLS:C4225371|DOID:0110665
GO:0051970	negative regulation of transmission of nerve impulse	biolink:OntologyClass	mondo			downregulation of transmission of nerve impulse|inhibition of transmission of nerve impulse|negative regulation of conduction of nerve impulse|down-regulation of transmission of nerve impulse|down regulation of transmission of nerve impulse	http://purl.obolibrary.org/obo/GO_0051970	Any process that stops, prevents, or reduces the frequency, rate or extent of transmission of a nerve impulse, the sequential electrochemical polarization and depolarization that travels across the membrane of a neuron in response to stimulation.	
MONDO:0014583	congenital myasthenic syndrome 3A	biolink:Disease	mondo	UMLS:C4225372|DOID:0110666|OMIM:616321		congenital myasthenic syndrome 3A, slow-channel|myasthenic syndrome, congenital, 3A, slow-channel|congenital myasthenic syndrome type 3A|CMS3A|myasthenic syndrome, congenital, 3A, slow-channel; CMS3A	http://purl.obolibrary.org/obo/MONDO_0014583	A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has material basis in heterozygous mutation in the CHRND gene on chromosome 2q37.	http://identifiers.org/omim/616321|UMLS:C4225372|DOID:0110666
GO:0036374	glutathione hydrolase activity	biolink:OntologyClass	mondo			glutathionase activity|gamma-glutamyltranspeptidase activity	http://purl.obolibrary.org/obo/GO_0036374	Catalysis of the reaction: glutathione + H2O = L-cysteinylglycine + L-glutamate.	
MONDO:0014582	congenital myasthenic syndrome 2C	biolink:Disease	mondo	OMIM:616314|DOID:0110680|UMLS:C4225373		myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency; CMS2C|CMS2C|congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency|myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency|congenital myasthenic syndrome type 2C	http://purl.obolibrary.org/obo/MONDO_0014582	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13.	UMLS:C4225373|DOID:0110680|http://identifiers.org/omim/616314
GO:0051984	positive regulation of chromosome segregation	biolink:OntologyClass	mondo			upregulation of chromosome segregation|up regulation of chromosome segregation|stimulation of chromosome segregation|up-regulation of chromosome segregation|activation of chromosome segregation	http://purl.obolibrary.org/obo/GO_0051984	Any process that activates or increases the frequency, rate or extent of chromosome segregation, the process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets.	
GO:0051985	negative regulation of chromosome segregation	biolink:OntologyClass	mondo			down regulation of chromosome segregation|inhibition of chromosome segregation|down-regulation of chromosome segregation|downregulation of chromosome segregation	http://purl.obolibrary.org/obo/GO_0051985	Any process that stops, prevents, or reduces the frequency, rate or extent of chromosome segregation, the process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets.	
NCBITaxon:2701	Gardnerella	organism taxon	mondo	GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_2701		
GO:0051983	regulation of chromosome segregation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0051983	Any process that modulates the frequency, rate or extent of chromosome segregation, the process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets.	
CL:0001008	Kit and Sca1-positive hematopoietic stem cell	biolink:Cell	mondo			LSK stem cell|Sca1-positive hematopoietic stem cell	http://purl.obolibrary.org/obo/CL_0001008	A hematopoietic stem cell that has plasma membrane part Kit-positive, SCA-1-positive, CD150-positive and CD34-negative.	
UBERON:0035159	entire surface of organism	biolink:AnatomicalEntity	mondo			surface of body	http://purl.obolibrary.org/obo/UBERON_0035159	Anatomical surface, which is the external surface of the whole body. Examples: There is only one body surface.	
NCBITaxon:2702	Gardnerella vaginalis	organism taxon	mondo	PMID:8782675|PMID:14361525|GC_ID:11		Corynebacterium vaginale|Haemophilus vaginalis|Haemophilus hemolyticus vaginalis	http://purl.obolibrary.org/obo/NCBITaxon_2702		
MONDO:0014578	congenital myasthenic syndrome 17	biolink:Disease	mondo	UMLS:C4225377|OMIM:616304|DOID:0110674		CMS17|congenital myasthenic syndrome type 17|myasthenic syndrome, congenital, type 17|myasthenic syndrome, congenital, 17; CMS17|LRP4 congenital myasthenic syndrome|congenital myasthenic syndrome caused by mutation in LRP4|myasthenic syndrome, congenital, 17	http://purl.obolibrary.org/obo/MONDO_0014578	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene.	DOID:0110674|http://identifiers.org/omim/616304|UMLS:C4225377
MONDO:0014577	short-rib thoracic dysplasia 13 with or without polydactyly	biolink:Disease	mondo	OMIM:616300|UMLS:C4225378|DOID:0110093|ICD10:Q77.2		short-rib thoracic dysplasia 13 with or without polydactyly; SRTD13|SRTD13|short-rib thoracic dysplasia 13 with or without polydactyly	http://purl.obolibrary.org/obo/MONDO_0014577	An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23.	http://identifiers.org/omim/616300|UMLS:C4225378|DOID:0110093
MONDO:0014576	lipoyl transferase 1 deficiency	biolink:Disease	mondo	Orphanet:401862|ICD10:E88.8|UMLS:C4225379|OMIM:616299	ordo_disease	lipoyltransferase 1 deficiency|lipoyltransferase 1 deficiency; LIPT1D|LIPT1D	http://purl.obolibrary.org/obo/MONDO_0014576		http://identifiers.org/omim/616299|ORPHA:401862|UMLS:C4225379
MONDO:0014575	Singleton-Merten syndrome 2	biolink:Disease	mondo	OMIM:616298|UMLS:C4225380		singleton-Merten syndrome 2|singleton-Merten dysplasia caused by mutation in DDX58|DDX58 singleton-Merten dysplasia|singleton-Merten syndrome 2; SGMRT2|singleton-Merten syndrome type 2|SGMRT2	http://purl.obolibrary.org/obo/MONDO_0014575	Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the DDX58 gene.	http://identifiers.org/omim/616298|UMLS:C4225380
HGNC:13533	ATP8A2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13533		
MONDO:0014579	Senior-Loken syndrome 8	biolink:Disease	mondo	UMLS:C4225376|OMIM:616307		SLSN8|Senior-Loken syndrome 8|WDR19 Senior-Loken syndrome|Senior-Loken syndrome type 8|Senior-Loken syndrome caused by mutation in WDR19|SENIOR-Loken syndrome 8; SLSN8	http://purl.obolibrary.org/obo/MONDO_0014579	Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene.	http://identifiers.org/omim/616307|UMLS:C4225376
MONDO:0014570	lethal congenital contracture syndrome 8	biolink:Disease	mondo	OMIM:616287|UMLS:C4225385		lethal congenital contracture syndrome type 8|lethal congenital contracture syndrome 8|lethal congenital contracture syndrome caused by mutation in ADCY6|lethal congenital contracture syndrome 8; LCCS8|LCCS8|ADCY6 lethal congenital contracture syndrome	http://purl.obolibrary.org/obo/MONDO_0014570	Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADCY6 gene.	http://identifiers.org/omim/616287|UMLS:C4225385
HGNC:13530	RXYLT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13530		
MONDO:0014574	peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome	biolink:Disease	mondo	OMIM:616295|ICD10:Q82.8|UMLS:C4225381|Orphanet:444138	ordo_disease	plack|peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads|peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads; plack|plack syndrome|peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome	http://purl.obolibrary.org/obo/MONDO_0014574		http://identifiers.org/omim/616295|ORPHA:444138|UMLS:C4225381
MONDO:0014573	Cole-Carpenter syndrome 2	biolink:Disease	mondo	UMLS:C4225382|OMIM:616294		Cole-Carpenter syndrome caused by mutation in SEC24D|SEC24D Cole-Carpenter syndrome|Cole-Carpenter syndrome type 2|CLCRP2|Cole-Carpenter syndrome 2|COLE-CARPENTER syndrome 2; CLCRP2	http://purl.obolibrary.org/obo/MONDO_0014573	Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the SEC24D gene.	http://identifiers.org/omim/616294|UMLS:C4225382
MONDO:0014572	Lichtenstein-Knorr syndrome	biolink:Disease	mondo	UMLS:C4225383|ICD10:G11.1|OMIM:616291|Orphanet:448251|DOID:0080065	ordo_disease	SCAR19|LIKNS|Lichtenstein-Knorr syndrome|autosomal recessive spinocerebellar ataxia 19|progressive autosomal recessive ataxia-deafness syndrome|progressive autosomal recessive ataxia-sensorineural hearing loss syndrome|Lichtenstein-Knorr syndrome; LIKNS|spinocerebellar ataxia, autosomal recessive 19|autosomal recessive spinocerebellar ataxia type 19	http://purl.obolibrary.org/obo/MONDO_0014572		http://identifiers.org/omim/616291|DOID:0080065|ORPHA:448251|UMLS:C4225383
MONDO:0014571	optic atrophy 9	biolink:Disease	mondo	OMIM:616289|DOID:0111442|UMLS:C4085249		autosomal recessive isolated optic atrophy caused by mutation in ACO2|optic atrophy 9|optic atrophy 9; OPA9|OPA9|ACO2 autosomal recessive isolated optic atrophy	http://purl.obolibrary.org/obo/MONDO_0014571		http://identifiers.org/omim/616289|UMLS:C4085249|DOID:0111442
CHEBI:48219	disinfectant	biolink:ChemicalSubstance	mondo			desinfectant|disinfectants|Desinfektionsmittel|disinfecting agent	http://purl.obolibrary.org/obo/CHEBI_48219	An antimicrobial agent that is applied to non-living objects to destroy harmful microorganisms or to inhibit their activity.	
UBERON:0035201	gastrocolic ligament	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0035201	A major portion of the greater omentum between the stomach and the transverse colon.	
CHEBI:48210	cyclopentafurofurochromene	biolink:ChemicalSubstance	mondo			cyclopentafurofurochromenes	http://purl.obolibrary.org/obo/CHEBI_48210		
UBERON:0011234	fibrous membrane of synovial tendon sheath	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011234		
UBERON:0011233	synovial membrane of synovial tendon sheath	biolink:AnatomicalEntity	mondo			synovium	http://purl.obolibrary.org/obo/UBERON_0011233	Synovial sac which surrounds parts of one or more tendons. Examples: synovial tendon sheath of manual digit 2, radial bursa.	
HGNC:8533	P2RX1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8533		
HGNC:25613	CWF19L1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25613		
UBERON:0001899	epithalamus	biolink:AnatomicalEntity	mondo			epithalamus|ETh	http://purl.obolibrary.org/obo/UBERON_0001899	Most dorsal part of the thalamus, comprising the pineal gland and habenular nuclei in most vertebrates. In a few vertebrates, it also includes the parietal eye. (Butler and Hodos, Comparative Vertebrate Neuroanatomy, 2nd ed, 2005, pg. 345-346.	
UBERON:0001898	hypothalamus	biolink:AnatomicalEntity	mondo			preoptico-hypothalamic region|Hy|hypothalamus|preoptico-hypothalamic area	http://purl.obolibrary.org/obo/UBERON_0001898	A specialized brain region of the ventral diencephalon arising near the end of the segmentation period; the embryonic hypothalamic region will give rise to the posterior pituitary gland as well as a number of brain nuclei. [ZFA]. One of the most important functions of the hypothalamus is to link the nervous system to the endocrine system via the pituitary gland (hypophysis).[Wikipedia].	
NCBITaxon:133894	Penaeus	organism taxon	mondo	GC_ID:1		Farfantepenaeus|Marsupenaeus|Fenneropenaeus|Melicertus|Litopenaeus	http://purl.obolibrary.org/obo/NCBITaxon_133894		
UBERON:0011220	mastoid process of temporal bone	biolink:AnatomicalEntity	mondo			mastoid process|mastoid process of skull|mastoid|processus mastoideus ossis temporalis	http://purl.obolibrary.org/obo/UBERON_0011220	The mastoid process is a conical prominence projecting from the undersurface of the mastoid portion of the temporal bone. It is located just behind the external acoustic meatus, and lateral to the styloid process. Its size and form vary somewhat; it is larger in the male than in the female. This process serves for the attachment of the posterior belly of the digastric, sternocleidomastoid, splenius capitis, and longissimus capitis muscles. The word is derived from the Greek 'masto-', alluding to its resemblance to the breast.	
NCBITaxon:133898		organism taxon	mondo				http://purl.obolibrary.org/obo/NCBITaxon_133898		
UBERON:0035216	thoracic part of esophagus	biolink:AnatomicalEntity	mondo			pars thoracica oesophageae|thoracic part of oesophagus|pars thoracica (oesophagus)|thoracic esophagus	http://purl.obolibrary.org/obo/UBERON_0035216	Zone of esophagus located in the thorax.	
UBERON:0011222	intra-ocular muscle	biolink:AnatomicalEntity	mondo			intrinsic muscle of eyeball|intrinsic ocular muscle	http://purl.obolibrary.org/obo/UBERON_0011222		
NCBITaxon:73421	Dicrocoeliidae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_73421		
UBERON:0011216	organ system subdivision	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011216	A subdivision of an anatomical system.	
HGNC:8548	P4HB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8548		
UBERON:0011215	central nervous system cell part cluster	biolink:AnatomicalEntity	mondo			cell part cluster of neuraxis|neuraxis layer	http://purl.obolibrary.org/obo/UBERON_0011215	A multi cell part structure that is part of a central nervous system.	
HGNC:8547	P4HA2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8547		
HGNC:8549	BLOC1S6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8549		
HGNC:25608	VPS53	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25608		
NCBITaxon:131221	Streptophytina	organism taxon	mondo	GC_ID:1		Charophyta/Embryophyta group|charophyte/embryophyte group	http://purl.obolibrary.org/obo/NCBITaxon_131221		
HP:0031047	Paraproteinemia	biolink:PhenotypicFeature	mondo			Monoclonal hypergammaglobulinemia	http://purl.obolibrary.org/obo/HP_0031047	An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells.	
UBERON:0011213	root of vagus nerve	biolink:AnatomicalEntity	mondo			vagal root|rX|vagus neural rootlet|vagus root|rootlet of vagus nerve|vagus nerve root	http://purl.obolibrary.org/obo/UBERON_0011213	A root of cranial nerve that is part of a vagus nerve.	
CHEBI:38869	general anaesthetic	biolink:ChemicalSubstance	mondo			general anaesthetic|general anaesthetics|Allgemeinanaesthetika|general anesthetics|Allgemeinanaesthetikum	http://purl.obolibrary.org/obo/CHEBI_38869	Substance that produces loss of consciousness.	
CHEBI:38867	anaesthetic	biolink:ChemicalSubstance	mondo			Anaesthetikum|anesthetic agent|anesthetics|Anaesthetika|anesthetic drug|anaesthetic|anaesthetics	http://purl.obolibrary.org/obo/CHEBI_38867	Substance which produces loss of feeling or sensation.	
HGNC:13601	FBXL4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13601		
UBERON:0001895	metencephalon	biolink:AnatomicalEntity	mondo			epencephalon|epencephalon-2	http://purl.obolibrary.org/obo/UBERON_0001895	Rostral segment of the hindbrain that has as its parts the pons (where present) and the cerebellum[WP,modified].	
UBERON:0001894	diencephalon	biolink:AnatomicalEntity	mondo			interbrain|mature diencephalon|betweenbrain|thalamencephalon|DiE|between brain|diencephalon	http://purl.obolibrary.org/obo/UBERON_0001894	The division of the forebrain that develops from the foremost primary cerebral vesicle.	
UBERON:0001897	dorsal plus ventral thalamus	biolink:AnatomicalEntity	mondo			wider thalamus|Th|thalami|thalamencephalon|thalamus opticus|thalamus	http://purl.obolibrary.org/obo/UBERON_0001897	Subcortical brain region consisting of paired gray matter bodies in the dorsal diencephalon and forming part of the lateral wall of the third ventricle of the brain. The thalamus represents the major portion of the diencephalon and is commonly divided into cellular aggregates known as nuclear groups.(MeSH). The dorsal topographic division of the interbrain. The macrodissected adult human thalamus was clearly illustrated by Vesalius in 1543 and the term as defined here was introduced by His in 1893. It includes the traditional epithalamus, dorsal thalamus, and ventral thalamus of Herrick (1910, pp. 494, 498). Also see Kuhlenbeck (1927, Ch. 9) and Jones (1985, p. 87).	
UBERON:0001896	medulla oblongata	biolink:AnatomicalEntity	mondo			bulbus|metepencephalon|medulla oblonzata|bulb|medulla	http://purl.obolibrary.org/obo/UBERON_0001896	Organ component of neuraxis that has as its parts the medullary reticular formation, inferior olivary complex and cochlear nuclear complex, among other structures[FMA]. The medulla oblongata lies directly above the spinal cord and controls vital autonomic functions such as digestion, breathing and the control of heart rate[GO].	
UBERON:0001891	midbrain	biolink:AnatomicalEntity	mondo			mesencephalon|MB	http://purl.obolibrary.org/obo/UBERON_0001891	The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles)[GO].	
UBERON:0001890	forebrain	biolink:AnatomicalEntity	mondo			FB|prosencephalon	http://purl.obolibrary.org/obo/UBERON_0001890	The most anterior region the brain including both the telencephalon and diencephalon.	
UBERON:0001893	telencephalon	biolink:AnatomicalEntity	mondo			cerebrum|supratentorial region|endbrain	http://purl.obolibrary.org/obo/UBERON_0001893	Part of the forebrain consisting of paired olfactory bulbs and cerebral hemispheres.	
UBERON:0001892	rhombomere	biolink:AnatomicalEntity	mondo			future rhombencephalon|segment of hindbrain|hindbrain segment|hindbrain neuromere|rhombomeres|hindbrain neuromeres|rhombomere	http://purl.obolibrary.org/obo/UBERON_0001892	A segment of the developing hindbrain[ZFA]. In the vertebrate embryo, a rhombomere is a transiently divided segment of the developing neural tube, within the hindbrain region (a neuromere) in the area that will eventually become the rhombencephalon. The rhombomeres appear as a series of slightly constricted swellings in the neural tube, caudal to the cephalic flexure.[WP].	
IAO:0100001	term replaced by	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/IAO_0100001		
CHEBI:26895	tetracyclines	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_26895	A subclass of polyketides having an octahydrotetracene-2-carboxamide skeleton, substituted with many hydroxy and other groups.	
HP:0031058	Impairment of activities of daily living	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0031058	Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure.	
UBERON:0011203	urachus mesenchyme	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011203	Mesenchyme that is part of a developing urachus.	
UBERON:0011202	urachus epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011202	An epithelium that is part of a urachus.	
UBERON:0011201	muscle layer of small intestine	biolink:AnatomicalEntity	mondo			muscularis externa of small intestine|muscular coat of small intestine|muscular layer of small intestine|tunica muscularis intestini tenuis|small intestine muscularis propria|tunica muscularis (intestinum tenue)	http://purl.obolibrary.org/obo/UBERON_0011201	A muscle layer that is part of a small intestine.	
UBERON:0011200	sacrococcygeal symphysis	biolink:AnatomicalEntity	mondo			sacrococcygeal joint|sacrococcygeal joint	http://purl.obolibrary.org/obo/UBERON_0011200	The sacrococcygeal symphysis (sacrococcygeal articulation, articulation of the sacrum and coccyx) is an amphiarthrodial joint, formed between the oval surface at the apex of the sacrum, and the base of the coccyx. It is a slightly moveable joint which is frequently, partially or completely, obliterated in old age, homologous with the joints between the bodies of the vertebrae.	
UBERON:0035237	branch of internal carotid artery	biolink:AnatomicalEntity	mondo			subdivision of internal carotid artery|internal carotid arterial subdivision	http://purl.obolibrary.org/obo/UBERON_0035237		
CHEBI:38877	intravenous anaesthetic	biolink:ChemicalSubstance	mondo			i.v.-Anaesthetikum|i.v.-Anaesthetika|intravenous anesthetics	http://purl.obolibrary.org/obo/CHEBI_38877		
UBERON:0035228	tonsillar fossa	biolink:AnatomicalEntity	mondo			tonsillar sinus|tonsillar bed	http://purl.obolibrary.org/obo/UBERON_0035228	Between the plica triangularis and the surface of the palatine tonsils is a space known as the tonsillar fossa (or tonsillar sinus); in many cases, however, this sinus is obliterated by its walls becoming adherent.	
UBERON:0001884	phrenic nerve	biolink:AnatomicalEntity	mondo			diaphragmatic nerve|phrenic|nervus phrenicus	http://purl.obolibrary.org/obo/UBERON_0001884	A nerve that arises from the caudal cervical nerves and is primarily the motor nerve of the diaphragm but also sends sensory fibers to the pericardium.	
UBERON:0001886	choroid plexus	biolink:AnatomicalEntity	mondo			choroid plexus of cerebral hemisphere|ventricular choroid plexus|plexus choroideus|chorioid plexus|CP|plexus choroideus	http://purl.obolibrary.org/obo/UBERON_0001886	A network formed by blood vessels and the tela choroidea which secretes CSF into the ventricular spaces.	
UBERON:0001885	dentate gyrus of hippocampal formation	biolink:AnatomicalEntity	mondo			dentate area (dentate gyrus)|dentate gyrus|gyrus dentatus|area dentata|fascia dentata|hippocampal dentate gyrus|dentate area	http://purl.obolibrary.org/obo/UBERON_0001885	Part of the hippocampal formation forming a 'V' or 'U' shaped structure with the opening bounded by hippocampal area CA3. It consists of 3 layers from superficial to deep: molecular, granule cell and polymorphic or hilar layer.	
HGNC:8565	PABPN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8565		
MONDO:0002413	glycogen storage disease I	biolink:Disease	mondo	MedDRA:10018464|ICD10:E74.0|NCIT:C84733|DOID:2749|MESH:D005953|Orphanet:364|SCTID:7265005|ICD10:E74.01	ordo_disease	hepatorenal glycogenosis|glycogen storage disease type I|von Gierke disease|glycogen storage disease, type I|glycogenosis type 1|GSD type I|glycogenosis type I|GSD due to G6P deficiency|glycogen storage disease due to G6P deficiency|G6P deficiency|GSD1|glycogen storage disease type 1|deficiency of glucose-6-phosphatase|glycogen storage disease due to glucose-6-phosphatase deficiency|GSD type 1|von Gierke's disease	http://purl.obolibrary.org/obo/MONDO_0002413	Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.	ORPHA:364|MEDDRA:10018464|DOID:2749|SNOMEDCT:7265005|MESH:D005953|UMLS:C0017920|NCIT:C84733
MONDO:0002414	gastric hemangioma	biolink:Disease	mondo	UMLS:C1333770|NCIT:C5481|DOID:275		gastric angioma|gastric hemangioma|stomach hemangioma|hemangioma of stomach|hemangioma of the stomach|angioma of the stomach|angioma of stomach	http://purl.obolibrary.org/obo/MONDO_0002414	A hemangioma arising from the stomach.	UMLS:C1333770|DOID:275|NCIT:C5481
CHEBI:73216	EC 3.6.* (hydrolases acting on acid anhydrides) inhibitor	biolink:ChemicalSubstance	mondo			EC 3.6 inhibitor|EC 3.6 inhibitors|EC 3.6.* (hydrolases acting on acid anhydrides) inhibitors|EC 3.6.* inhibitor|acid anhydride hydrolase inhibitor|EC 3.6.*.* inhibitor|EC 3.6.*.* inhibitors|acid anhydride hydrolase inhibitors|inhibitors of hydrolase acting on acid anhydride (EC 3.6.*)|inhibitor of hydrolase acting on acid anhydride (EC 3.6.*)|EC 3.6.* inhibitors	http://purl.obolibrary.org/obo/CHEBI_73216	Any hydrolase inhibitor that interferes with the action of a hydrolase which acts on acid anhydrides (EC 3.6.*.*).	
MONDO:0002415	bone carcinoma	biolink:Disease	mondo	DOID:2762		carcinoma of bone element|bone element carcinoma	http://purl.obolibrary.org/obo/MONDO_0002415	A carcinoma that involves the bone element.	DOID:2762
MONDO:0002416	ethmoid sinus squamous cell carcinoma	biolink:Disease	mondo	UMLS:C1333477|NCIT:C6065|DOID:2763|SCTID:707359008		epidermoid carcinoma of the ethmoid sinus|epidermoid carcinoma of ethmoid sinus|ethmoid sinus epidermoid carcinoma|epidermoid carcinoma of ethmoidal sinus|epidermoid carcinoma of the ethmoidal sinus|ethmoidal sinus squamous cell carcinoma|squamous cell carcinoma of the ethmoid sinus|squamous cell carcinoma of ethmoid sinus|ethmoidal sinus epidermoid carcinoma|squamous cell carcinoma of the ethmoidal sinus|squamous cell carcinoma of ethmoidal sinus|ethmoid sinus squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002416	A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.	SNOMEDCT:707359008|UMLS:C1333477|NCIT:C6065|DOID:2763
UBERON:0011272	embryonic skin basal layer	biolink:AnatomicalEntity	mondo			basal cell layer of skin|outer epithelium of body	http://purl.obolibrary.org/obo/UBERON_0011272		
MONDO:0002410	pyeloureteritis cystica	biolink:Disease	mondo	DOID:2743|SCTID:37779008|ICD10:N28.85|UMLS:C0156254|COHD:199869|ICD9:590.3			http://purl.obolibrary.org/obo/MONDO_0002410		SNOMEDCT:37779008|UMLS:C0156254|DOID:2743
MONDO:0002411	narcissistic personality disorder	biolink:Disease	mondo	COHD:440080|DOID:2745|SCTID:80711002|ICD10:F60.81|ICD9:301.81|NCIT:C92635			http://purl.obolibrary.org/obo/MONDO_0002411	A disorder characterized by an enduring pattern of grandiose beliefs and arrogant behavior together with an overwhelming need for admiration and a lack of empathy for (and even exploitation of) others.	NCIT:C92635|SNOMEDCT:80711002|DOID:2745
UBERON:0011270	dorsal trunk	biolink:AnatomicalEntity	mondo			dorsal part of trunk|dorsum of trunk|back of trunk|trunk back	http://purl.obolibrary.org/obo/UBERON_0011270	The part of the trunk that is in the dorsum[cjm].	
MONDO:0002412	glycogen storage disease	biolink:Disease	mondo	ICD10:E74.00|MESH:D006008|NCIT:C61272|ICD9:271.0|UMLS:C0017919|ICD10:E74.0|COHD:434003|SCTID:29633007|DOID:0050728|Orphanet:79201|DOID:2747|MedDRA:10061990	ordo_group_of_disorders	glycogen metabolism disorder|inborn glycogen storage disorder|glycogen storage disease|rare inborn error of glycogen metabolic process|glycogenosis|GSD|inborn glycogen metabolic process disorder|glycogenoses|inborn error of glycogen metabolic process|glycogen storage disorder|rare inborn error of glycogen metabolic process	http://purl.obolibrary.org/obo/MONDO_0002412	An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues.	SNOMEDCT:29633007|DOID:0050728|MESH:D006008|NCIT:C61272|ORPHA:79201|DOID:2747|MEDDRA:10061990|UMLS:C0017919
UBERON:0011273	nail of manual digit 1	biolink:AnatomicalEntity	mondo			nail plate of thumb|thumb nail|nail of manual digit I|nail of thumb|claw of digit 1 of fore-paw	http://purl.obolibrary.org/obo/UBERON_0011273	A nail that is part of a manual digit 1.	
UBERON:0011278	nail of pedal digit 1	biolink:AnatomicalEntity	mondo			nail of pedal digit I|claw of digit 1 of hind-paw|big toe nail|nail of big toe|nail of great toe|nail of first toe|nail plate of big toe	http://purl.obolibrary.org/obo/UBERON_0011278	A nail that is part of a pedal digit 1.	
UBERON:0011277	nail of manual digit 5	biolink:AnatomicalEntity	mondo			little finger nail|nail of fifth finger|nail of little finger|nail plate of little finger|nail of manual digit V|claw of digit 5 of fore-paw	http://purl.obolibrary.org/obo/UBERON_0011277	A nail that is part of a manual digit 5.	
MONDO:0014402	severe neurodegenerative syndrome with lipodystrophy	biolink:Disease	mondo	ICD10:G31.8|OMIM:615924|Orphanet:363400|UMLS:C4014700	ordo_disease	severe neurodegenerative syndrome due to BSCL2 deficiency|encephalopathy, progressive, with or without lipodystrophy|PELD|encephalopathy, progressive, with or without lipodystrophy; PELD	http://purl.obolibrary.org/obo/MONDO_0014402		ORPHA:363400|UMLS:C4014700|http://identifiers.org/omim/615924
MONDO:0014401	tall stature-scoliosis-macrodactyly of the great toes syndrome	biolink:Disease	mondo	Orphanet:329191|UMLS:C4014690|OMIM:615923|DOID:0070316	ordo_disease	ECDM|epiphyseal chondrodysplasia, MIURA type; ECDM|epiphyseal chondrodysplasia, MIURA type|Miura type epiphyseal chondrodysplasia|tall stature-scoliosis-macrodactyly of the halluces syndrome	http://purl.obolibrary.org/obo/MONDO_0014401	Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis.	ORPHA:329191|UMLS:C4014690|DOID:0070316|http://identifiers.org/omim/615923
MONDO:0014400	retinitis pigmentosa 70	biolink:Disease	mondo	DOID:0110392|UMLS:C4014681|OMIM:615922|ICD10:H35.5		RP70|retinitis pigmentosa caused by mutation in PRPF4|retinitis pigmentosa type 70|retinitis pigmentosa 70|PRPF4 retinitis pigmentosa|retinitis pigmentosa 70; RP70	http://purl.obolibrary.org/obo/MONDO_0014400	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF4 gene.	UMLS:C4014681|DOID:0110392|http://identifiers.org/omim/615922
MONDO:0014406	pancreatic agenesis 2	biolink:Disease	mondo	OMIM:615935|UMLS:C4014737		pancreatic agenesis 2|pancreatic agenesis 2; PAGEN2|PTF1A pancreatic agenesis|pancreatic hypoplasia, congenital 2|PAGEN2|pancreatic agenesis caused by mutation in PTF1A|pancreatic agenesis type 2	http://purl.obolibrary.org/obo/MONDO_0014406	Any pancreatic agenesis in which the cause of the disease is a mutation in the PTF1A gene.	http://identifiers.org/omim/615935|UMLS:C4014737
MONDO:0014405	STING-associated vasculopathy with onset in infancy	biolink:Disease	mondo	ICD10:M35.8|Orphanet:425120|UMLS:C4014722|UMLS:C4040879|GARD:0012357|ICD9:279.8|DOID:0111457|SCTID:711164003|OMIM:615934	gard_rare|ordo_disease	STING-associated vasculopathy, infantile-onset; SAVI|SAVI|STING-associated vasculopathy, infantile-onset	http://purl.obolibrary.org/obo/MONDO_0014405	STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation.	http://identifiers.org/omim/615934|ORPHA:425120|SNOMEDCT:711164003|DOID:0111457|UMLS:C4014722|UMLS:C4040879
MONDO:0014404	Webb-Dattani syndrome	biolink:Disease	mondo	OMIM:615926|UMLS:C4014708|Orphanet:370006		hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies|WEDAS|WEBB-Dattani syndrome; WEDAS|Webb-Dattani syndrome|hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0014404		UMLS:C4014708|ORPHA:370006|http://identifiers.org/omim/615926
MONDO:0014403	short stature due to GHSR deficiency	biolink:Disease	mondo	Orphanet:314811|ICD10:E34.3|SCTID:766817004|OMIM:615925	ordo_disease	short stature due to growth hormone secretagogue receptor deficiency|growth hormone deficiency, isolated partial; GHDP|growth hormone deficiency, isolated partial|GHDP|ghrelin receptor deficiency	http://purl.obolibrary.org/obo/MONDO_0014403	Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.	ORPHA:314811|SNOMEDCT:766817004|http://identifiers.org/omim/615925
MONDO:0002406	dermatitis	biolink:Disease	mondo	EFO:1000636|SCTID:43116000|DOID:2723|NCIT:C2983|UMLS:C0011603|ICD10:L30.9|MESH:D003872|ICD9:692.9		eczema|inflammatory skin disease|inflammation of skin|zone of skin inflammation|inflammation of the skin|inflammation of zone of skin|skin inflammation	http://purl.obolibrary.org/obo/MONDO_0002406	An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis.	MESH:D003872|NCIT:C2983|UMLS:C0011603|SNOMEDCT:43116000|DOID:2723
MONDO:0002407	capillary hemangioma	biolink:Disease	mondo	ICD10:Q82.5|DOID:2725|ICDO:9131/0|NCIT:C7457|SCTID:56975005|UMLS:C0206733|MESH:D018324		congenital vascular hamartoma|congenital vascular naevus|strawberry nevus of skin|strawberry haemangioma|strawberry nevus|cellular hemangioma of infancy|infantile hemangioma|juvenile hemangioma|capillary hemangioma|capillary angioma|capillary hemangioma (morphologic abnormality)|cellular hemangioma of infancy (strawberry nevus)	http://purl.obolibrary.org/obo/MONDO_0002407	A common hemangioma characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells.	SNOMEDCT:56975005|UMLS:C0206733|NCIT:C7457|MESH:D018324|DOID:2725
HGNC:8574	PAFAH1B1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8574		
MONDO:0002408	hereditary hyperbilirubinemia	biolink:Disease	mondo	DOID:2741|NCIT:C84761|UMLS:C0020435|OMIMPS:237450|MESH:D006933		hereditary hyperbilirubinemia|hyperbilirubinemia|hyperbilirubinaemia|bilirubin metabolic disorder	http://purl.obolibrary.org/obo/MONDO_0002408	An inherited disorder affecting the metabolism of bilirubin. It results in increased levels of bilirubin in the blood. Representative examples of this condition include Gilbert syndrome and Crigler-Najjar syndrome.	MESH:D006933|NCIT:C84761|UMLS:C0020435|DOID:2741
MONDO:0002409	auditory system disease	biolink:Disease	mondo	ICD9:388.9|ICD10:H93.9|EFO:1001455|DOID:2742|ICD10:H93.90|SCTID:362966006		disorder of auditory system|ear and mastoid disease|disorder of auditory system|auditory system disease|auditory disease|disease or disorder of auditory system|auditory system disease or disorder|disease of auditory system	http://purl.obolibrary.org/obo/MONDO_0002409	A disease involving the auditory system.	SNOMEDCT:362966006|DOID:2742
MONDO:0002424	rectosigmoid carcinoma	biolink:Disease	mondo	NCIT:C7421|DOID:2781|UMLS:C1327709		rectosigmoid junction carcinoma|rectosigmoid carcinoma|rectosigmoid cancer|carcinoma of rectosigmoid junction	http://purl.obolibrary.org/obo/MONDO_0002424	A malignant epithelial neoplasm that arises from the rectosigmoid area and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. About 50% of colorectal carcinomas occur in the rectosigmoid area.	UMLS:C1327709|NCIT:C7421|DOID:2781
MONDO:0002425	rectosigmoid junction cancer	biolink:Disease	mondo	COHD:4180792|NCIT:C7420|SCTID:363414004|DOID:2782|ICD9:154.0|ICD10:C19|UMLS:C0153443		rectosigmoid junction cancer|malignant rectosigmoid neoplasm|cancer of rectosigmoid junction|malignant rectosigmoid junction neoplasm|malignant neoplasm of the rectosigmoid junction|malignant rectosigmoid tumor|malignant tumor of the rectosigmoid junction|malignant tumor of rectosigmoid junction|malignant neoplasm of rectosigmoid|malignant neoplasm of rectosigmoid junction	http://purl.obolibrary.org/obo/MONDO_0002425	A primary or metastatic malignant neoplasm that affects the rectosigmoid area. Representative examples include carcinoma, lymphoma, and sarcoma.	NCIT:C7420|DOID:2782|UMLS:C0153443|SNOMEDCT:363414004
CHEBI:26878	tertiary alcohol	biolink:ChemicalSubstance	mondo			tertiary alcohol|tertiary alcohols	http://purl.obolibrary.org/obo/CHEBI_26878	A tertiary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has three other carbon atoms attached to it.	
MONDO:0002426	lung sarcoma	biolink:Disease	mondo	NCIT:C4860|DOID:2784|UMLS:C0598790		pulmonary sarcoma|sarcoma of lung|lung sarcoma|sarcoma of the lung	http://purl.obolibrary.org/obo/MONDO_0002426	A malignant mesenchymal neoplasm that arises from the lung. Representative examples include Kaposi sarcoma, leiomyosarcoma, and synovial sarcoma.	UMLS:C0598790|DOID:2784|NCIT:C4860
MONDO:0002427	cerebellar disease	biolink:Disease	mondo	UMLS:C0007760|DOID:2786|MESH:D002526|SCTID:223176004		disease of cerebellum|disease or disorder of cerebellum|disorder of cerebellum|cerebellum disease|cerebellum disease or disorder|disorder of cerebellum	http://purl.obolibrary.org/obo/MONDO_0002427	Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia.	MESH:D002526|SNOMEDCT:223176004|UMLS:C0007760|DOID:2786
CHEBI:26873	terpenoid	biolink:ChemicalSubstance	mondo			terpenoides|Terpenoid|terpenoids|terpenoide	http://purl.obolibrary.org/obo/CHEBI_26873	Any isoprenoid that is a natural product or related compound formally derived from isoprene units. Terpenoids may contain oxygen in various functional groups. This class is subdivided according to the number of carbon atoms in the parent terpene. The skeleton of terpenoids may differ from strict additivity of isoprene units by the loss or shift of a fragment, generally a methyl group.	
MONDO:0002420	tic disorder	biolink:Disease	mondo	ICD10:F95.9|SCTID:568005|COHD:381839|MESH:D013981|ICD9:307.2|ICD9:307.20|ICD10:F95|DOID:2769			http://purl.obolibrary.org/obo/MONDO_0002420	Disorders characterized by recurrent TICS that may interfere with speech and other activities. Tics are sudden, rapid, nonrhythmic, stereotyped motor movements or vocalizations which may be exacerbated by stress and are generally attenuated during absorbing activities. Tic disorders are distinguished from conditions which feature other types of abnormal movements that may accompany another another condition. (From DSM-IV, 1994)	MESH:D013981|SNOMEDCT:568005|DOID:2769
MONDO:0002421	obsolete chorioangioma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002421		
MONDO:0002422	adamantinoma	biolink:Disease	mondo	Orphanet:55881|DOID:2776|ONCOTREE:ADMA|DOID:2775|MESH:D050398|ICD10:C40.2|UMLS:C1367554|NCIT:C7644|MESH:C562741|ICDO:9261/3|OMIM:102660|ICD9:170.9|SCTID:307609003|UMLS:C0334556	ordo_disease	adamantinoma|adamantinoma of long bones|long bone adamantinoma|adamantinoma of long bone|adamantinoma, malignant|adamantinoma of long bones (morphologic abnormality)|Extragnathic adamantinoma	http://purl.obolibrary.org/obo/MONDO_0002422	A low grade malignant neoplasm arising from the long bones. The tibia is the most frequently affected bone site. Patients present with swelling which may or may not be associated with pain. Morphologically, it is characterized by a biphasic pattern consisting of an epithelial and an osteofibrous component. The vast majority of cases recur if they are not treated with radical surgery. In a minority of cases the tumor may metastasize to other anatomic sites including lymph nodes, lungs, liver, brain, and skeleton.	SNOMEDCT:307609003|UMLS:C1367554|ORPHA:55881|NCIT:C7644|DOID:2775|DOID:2776|MESH:D050398|MESH:C562741|UMLS:C0334556|http://identifiers.org/omim/102660
MONDO:0002423	rectosigmoid junction neoplasm	biolink:Disease	mondo	SCTID:126848003|DOID:2780|UMLS:C0345873|NCIT:C4877		rectosigmoid junction tumor|rectosigmoid tumor|neoplasm of rectosigmoid junction|tumor of the rectosigmoid junction|rectosigmoid junction neoplasm (disease)|rectosigmoid neoplasm|neoplasm of the rectosigmoid junction|tumor of rectosigmoid junction	http://purl.obolibrary.org/obo/MONDO_0002423	A benign or malignant neoplasm that affects the rectosigmoid region. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectosigmoid adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.	UMLS:C0345873|DOID:2780|SNOMEDCT:126848003|NCIT:C4877
UBERON:0011265	carpometacarpal joint of digit 1	biolink:AnatomicalEntity	mondo			carpometacarpal joint of pollex|carpometacarpal joint of thumb|carpometacarpal joint of digit I|carpometacarpal joint of the thumb|TMJ|trapeziometacarpal joint	http://purl.obolibrary.org/obo/UBERON_0011265	A carpometacarpal joint that connects to metacarpal 1.	
NCBITaxon:299071	Ajellomycetaceae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_299071		
HGNC:8582	PAH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8582		
HGNC:8583	SERPINE1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8583		
MONDO:0002417	obsolete ethmoid sinus adenoid cystic carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002417		
MONDO:0002418	ethmoid sinus adenocarcinoma	biolink:Disease	mondo	DOID:2766|UMLS:C1333472|NCIT:C6237		adenocarcinoma of the ethmoid sinus|adenocarcinoma of ethmoid sinus	http://purl.obolibrary.org/obo/MONDO_0002418	A carcinoma that arises from glandular epithelial cells of the epithelial cell	UMLS:C1333472|NCIT:C6237|DOID:2766
MONDO:0002419	transient tic disorder	biolink:Disease	mondo	ICD10:F95.0|SCTID:56573006|DOID:2768|COHD:4210636|NCIT:C116767|ICD9:307.21		benign Tic disorder of childhood	http://purl.obolibrary.org/obo/MONDO_0002419	A neurological disorder presenting in childhood that is characterized by motor and/or phonic tics that occur daily or nearly daily for one to twelve months and are not attributed to an identifiable cause.	SNOMEDCT:56573006|NCIT:C116767|DOID:2768
UBERON:0011250	autopod bone	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011250	A bone that is part of a autopod region. Note that this incudes the carpal and tarsal bones.	
UBERON:0011252	scent gland	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011252	Scent glands are exocrine glands found in most mammals. They produce semi-viscous secretions which contain pheromones and other semiochemical compounds. These odor-messengers indicate information such as status, territory marking, mood, and sexual power. The odor may be subliminal-not consciously detectable. Though it is not their primary function, the salivary glands may also function as scent glands in some animals.	
UBERON:0011249	appendicular skeletal system	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011249	Subdivision of the skeletal system which consists of the appendicular skeleton plus associated joints.	
HGNC:8592	PAK3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8592		
MONDO:0002402	malignant giant cell tumor	biolink:Disease	mondo	NCIT:C4090|UMLS:C0334229|ICDO:8003/3|DOID:2705		malignant giant cell neoplasm|giant cell tumor, malignant|malignant giant cell tumor|malignant tumor, giant cell type (morphologic abnormality)|malignant tumor, giant cell type	http://purl.obolibrary.org/obo/MONDO_0002402	A malignant neoplasm characterized by then presence of atypical giant cells.	DOID:2705|NCIT:C4090|UMLS:C0334229
MONDO:0002403	synovium cancer	biolink:Disease	mondo	NCIT:C6531|DOID:2706|UMLS:C1334624		cancer of synovial membrane of synovial joint|malignant tumor of the synovium|malignant synovial tumor|malignant neoplasm of layer of synovial tissue|malignant neoplasm of synovium|layer of synovial tissue cancer|malignant neoplasm of synovial membrane of synovial joint|malignant neoplasm of the synovium|malignant synovial neoplasm|malignant tumor of synovium|malignant synovial membrane of synovial joint neoplasm|synovial membrane of synovial joint cancer|malignant layer of synovial tissue neoplasm|cancer of layer of synovial tissue	http://purl.obolibrary.org/obo/MONDO_0002403	A cancer that involves the layer of synovial tissue.	UMLS:C1334624|NCIT:C6531|DOID:2706
MONDO:0002404	liver hemangioma	biolink:Disease	mondo	SCTID:93469006|DOID:271|UMLS:C0238246|NCIT:C3869		hepatic angioma|liver hemangioma|liver angioma|hemangioma of the liver|angioma of the liver|hemangioma of liver|hepatic hemangioma|angioma of liver|hemangioma of liver	http://purl.obolibrary.org/obo/MONDO_0002404	A hemangioma arising from the liver.	UMLS:C0238246|NCIT:C3869|DOID:271|SNOMEDCT:93469006
MONDO:0002405	hepatic vascular disease	biolink:Disease	mondo	SCTID:235878005|DOID:272|UMLS:C0400923|ICD9:573.8|NCIT:C35442		hepatic vascular disorder|liver vascular disorder|vascular disorder of liver	http://purl.obolibrary.org/obo/MONDO_0002405	A non-neoplastic or neoplastic vascular disorder that affects the liver. Representative examples include veno-occlusive disease, hemangioma, lymphangioma, and angiosarcoma.	UMLS:C0400923|NCIT:C35442|DOID:272|SNOMEDCT:235878005
MONDO:0002400	synovitis (disease)	biolink:Disease	mondo	DOID:2703|HP:0100769|SCTID:416209007|EFO:0008997|MESH:D013585|GARD:0007722|NCIT:C50766		inflammation of synovial membrane of synovial joint|synovitis|Synovitides|synovial membrane of synovial joint inflammation	http://purl.obolibrary.org/obo/MONDO_0002400	Inflammation of a synovial membrane.	MESH:D013585|NCIT:C50766|SNOMEDCT:416209007|DOID:2703
MONDO:0002401	malignant tenosynovial giant cell tumor	biolink:Disease	mondo	UMLS:C1266168|NCIT:C6535|ICDO:9252/3|DOID:2704		malignant tendon sheath giant cell tumor|malignant giant cell neoplasm of tendon sheath|tenosynovial giant cell tumor, malignant|malignant giant cell tumor of the tendon sheath|malignant giant cell tumor of tendon sheath|malignant tendon sheath giant cell neoplasm|giant cell tumour of tendon sheath, malignant|malignant giant cell neoplasm of the tendon sheath|malignant tenosynovial giant cell tumor	http://purl.obolibrary.org/obo/MONDO_0002401	An uncommon malignant tumor arising from the tendon sheath. Morphologically, it is characterized by the presence of a cellular infiltrate reminiscent of a giant cell tumor with prominent malignant characteristics. Recurrent giant cell tumors with a sarcomatous dedifferentiation are included in this category as well.	UMLS:C1266168|NCIT:C6535|DOID:2704
UBERON:0011241	ethmoid region	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011241	The most anterior region of the braincase. Provides structural support for peripheral olfactory organ.	
UBERON:0001826	nasal cavity mucosa	biolink:AnatomicalEntity	mondo			nasal mucosa|tunica mucosa nasi|mucosa of nose|tunica mucosa nasalis|mucous membrane of nose	http://purl.obolibrary.org/obo/UBERON_0001826	The mucous membrane that lines the nasal cavity[MP].	
UBERON:0001825	paranasal sinus	biolink:AnatomicalEntity	mondo			nasal sinus|sinus	http://purl.obolibrary.org/obo/UBERON_0001825	the paired air-filled cavities surrounded by the bones of the face that are lined by mucous membranes and are continuous with the nasal cavity	
UBERON:0001828	gingiva	biolink:AnatomicalEntity	mondo			gum tissue|gums|gum|gingival mucosa	http://purl.obolibrary.org/obo/UBERON_0001828	The fibrous investing tissue, covered by keratinized epithelium, that immediately surrounds a tooth and is contiguous with its periodontal ligament and with the mucosal tissues of the mouth[Glossary of Periodontal Terms 2001].	
UBERON:0001827	secretion of lacrimal gland	biolink:AnatomicalEntity	mondo			tear fluid|tear|tears|lacrimal fluid|lacrimal gland secretion|lacrimal secretion	http://purl.obolibrary.org/obo/UBERON_0001827	Aqueous substance secreted by the lacrimal gland.	
UBERON:0001821	sebaceous gland	biolink:AnatomicalEntity	mondo			glandula sebacea|sebaceous follicle|glandula sebaceae	http://purl.obolibrary.org/obo/UBERON_0001821	A holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts.[MP].	
UBERON:0001824	mucosa of larynx	biolink:AnatomicalEntity	mondo			tunica mucosa laryngis|larynx mucous membrane|laryngeal mucosa|laryngeal mucous membrane|mucosa of organ of larynx|organ mucosa of larynx|mucous membrane of larynx|larynx mucosa|larynx mucosa of organ|larynx organ mucosa	http://purl.obolibrary.org/obo/UBERON_0001824	The mucous lining of the larynx, which is composed of squamous epithelium in the upper larynx and ciliated columnar epithelium in the lower larynx.	
UBERON:0001823	nasal cartilage	biolink:AnatomicalEntity	mondo			cartilage of nose	http://purl.obolibrary.org/obo/UBERON_0001823	One of the cartilage structures in the nose that provide form and support[WP].	
UBERON:0001829	major salivary gland	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0001829	One of the three largest glands of the oral cavity that secrete most of the saliva, including the parotid, submandibular, and sublingual glands.	
UBERON:0001831	parotid gland	biolink:AnatomicalEntity	mondo			parotid|glandula parotidea	http://purl.obolibrary.org/obo/UBERON_0001831	The parotid gland is the largest of the salivary glands. It is found wrapped around the mandibular ramus, and it secretes saliva through Stensen's duct into the oral cavity, to facilitate mastication and swallowing. [WP,unvetted].	
UBERON:0001830	minor salivary gland	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0001830	One of the smaller, largely mucus-secreting, exocrine glands of the oral cavity, consisting of the labial, buccal, molar, lingual, and palatine glands[MP].	
UBERON:0001815	lumbosacral nerve plexus	biolink:AnatomicalEntity	mondo			lumbosacral plexus|plexus lumbosacralis|plexus lumbosacralis	http://purl.obolibrary.org/obo/UBERON_0001815	An arrangement of nerve fibers, running from the spine that travels to the pelvic appendage where it innervates skin and muscle.	
UBERON:0001814	brachial nerve plexus	biolink:AnatomicalEntity	mondo			plexus brachialis|brachial plexus	http://purl.obolibrary.org/obo/UBERON_0001814	An arrangement of nerve fibers, running from the spine where it proceeds through the neck then the axilla and into the arm where it innervates skin and muscle. [WP,modified].	
GO:0097485	neuron projection guidance	biolink:OntologyClass	mondo			neuronal cell projection guidance|neuron protrusion guidance|neurite guidance|neuron process guidance	http://purl.obolibrary.org/obo/GO_0097485	The process in which the migration of a neuron projection is directed to a specific target site in response to a combination of attractive and repulsive cues.	
UBERON:0001817	lacrimal gland	biolink:AnatomicalEntity	mondo			glandula lacrimalis|preorbital gland|tear gland|lacrimal-preorbital gland|glandula praeorbitalis	http://purl.obolibrary.org/obo/UBERON_0001817	The lacrimal glands are paired almond-shaped glands, located in or near the orbital region, that secrete the aqueous layer of the tear film.[WP].	
UBERON:0001816	autonomic nerve plexus	biolink:AnatomicalEntity	mondo			plexus visceralis|visceral nerve plexus|autonomic plexus|plexus nervosus visceralis|visceral plexus|plexus autonomicus	http://purl.obolibrary.org/obo/UBERON_0001816	A nerve plexus that is part of an autonomic nervous system [Automatically generated definition].	
UBERON:0001811	conjunctiva	biolink:AnatomicalEntity	mondo			conjunctivae|wall of conjunctival sac|conjunctivas|tunica conjunctiva	http://purl.obolibrary.org/obo/UBERON_0001811	the mucous membrane that lines the inner surface of the eyelids and the front of the eyeball	
UBERON:0001810	nerve plexus	biolink:AnatomicalEntity	mondo			plexus	http://purl.obolibrary.org/obo/UBERON_0001810	Anatomical junction where subdivisions of two or more neural trees interconnect with one another to form a network through which nerve fibers of the constituent nerve trees become regrouped; together with other nerve plexuses, nerves and ganglia, it constitutes the peripheral nervous system. Examples: cervical nerve plexus, brachial nerve plexus, sacral nerve plexus[FMA].	
UBERON:0001813	spinal nerve plexus	biolink:AnatomicalEntity	mondo			plexus of spinal nerves|spinal nerve plexus|somatic nerve plexus|plexus nervorum spinalium	http://purl.obolibrary.org/obo/UBERON_0001813	an intermingling of fiber fascicles from adjacent spinal nerves to form a network.	
UBERON:0001818	tarsal gland	biolink:AnatomicalEntity	mondo			gland of Meibom|Meibomian gland|tarsoconjunctival gland|palpebral gland|glandula tarsales	http://purl.obolibrary.org/obo/UBERON_0001818	A modified lobulated sebaceous gland at the rim of an eyelid, responsible for the supply of meibum.	
UBERON:0001820	sweat gland	biolink:AnatomicalEntity	mondo			glandula sudorifera|sudoriparous gland|sudoriferous gland	http://purl.obolibrary.org/obo/UBERON_0001820	any of the coil glands of the skin that secrete sweat	
UBERON:0001804	capsule of lens	biolink:AnatomicalEntity	mondo			lens capsule|capsula lentis	http://purl.obolibrary.org/obo/UBERON_0001804	the elastic, clear, membrane-like structure, that is outer most layer of the lens	
UBERON:0001803	epithelium of lens	biolink:AnatomicalEntity	mondo			eye lens epithelium|lens epithelium|lens epithelial tissue|eye lens epithelial tissue|epithelial tissue of lens|epithelium lentis|epithelial tissue of eye lens|epithelium of eye lens	http://purl.obolibrary.org/obo/UBERON_0001803	A layer of epithelial cells that is part of the eye.	
UBERON:0001806	sympathetic ganglion	biolink:AnatomicalEntity	mondo			ganglion sympatheticum|sympathetic part of autonomic division of nervous system ganglion|ganglion of sympathetic part of autonomic division of nervous system|ganglion sympathicum|sympathetic nervous system ganglion|ganglion of sympathetic nervous system	http://purl.obolibrary.org/obo/UBERON_0001806	A ganglion of the sympathetic nervous system. Examples: paravertebral and the prevertebral ganglia, which include the sympathetic chain ganglia, the superior, middle, and inferior cervical ganglia, and the aorticorenal, celiac, and stellate ganglia	
UBERON:0001805	autonomic ganglion	biolink:AnatomicalEntity	mondo			ganglion of visceral nervous system|autonomic nervous system ganglion|ganglion autonomicum|ganglion of autonomic nervous system|visceral nervous system ganglion	http://purl.obolibrary.org/obo/UBERON_0001805	ganglion that has dendrites that form a junction between autonomic nerves originating from the central nervous system and autonomic nerves innervating their target organs in the periphery. There are two subtypes, sympathetic ganglion and parasympathetic ganglion.	
UBERON:0001800	sensory ganglion	biolink:AnatomicalEntity	mondo			ganglion sensorium	http://purl.obolibrary.org/obo/UBERON_0001800	The clusters of neurons in the somatic peripheral nervous system which contain the cell bodies of sensory nerve axons, interneurons and non-neuronal supporting cells.	
UBERON:0001802	posterior segment of eyeball	biolink:AnatomicalEntity	mondo			segmentum posterius (bulbus oculi)|posterior segment of the eye|posterior segment of eye|eye posterior segment|posterior segment eye|posterior eye segment|segmentum posterius bulbi oculi	http://purl.obolibrary.org/obo/UBERON_0001802	any of the parts of the eye that lie in back of, or dorsal to, the lens (but not inclusive)	
UBERON:0001801	anterior segment of eyeball	biolink:AnatomicalEntity	mondo			eye anterior segment|segmentum anterius (bulbus oculi)|segmentum anterius bulbi oculi|anterior segment of the eye|anterior segment of eye|anterior segment eye|anterior eye segment	http://purl.obolibrary.org/obo/UBERON_0001801	any of the parts of the eye that lie in front of, or ventral to, the lens (inclusive)	
UBERON:0001808	parasympathetic ganglion	biolink:AnatomicalEntity	mondo			ganglion parasympathicum	http://purl.obolibrary.org/obo/UBERON_0001808	Ganglion containing neurons that receive innervation from parasympathetic neurons in the central nervous system and subserves parasympathetic functions through innervation of smooth muscle, cardiac muscle and glands.	
CHEBI:48278	serotonergic drug	biolink:ChemicalSubstance	mondo			serotonergic drugs|serotonergic agents|serotonin drugs	http://purl.obolibrary.org/obo/CHEBI_48278		
CHEBI:131530	pyridoxal(1+)	biolink:ChemicalSubstance	mondo			pyridoxal cation|4-formyl-3-hydroxy-5-(hydroxymethyl)-2-methylpyridin-1-ium	http://purl.obolibrary.org/obo/CHEBI_131530	A pyridinium ion obtained by protonation of the ring nitrogen of pyridoxal.	
GO:0097458	obsolete neuron part	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0097458	OBSOLETE. Any constituent part of a neuron, the basic cellular unit of nervous tissue. A typical neuron consists of a cell body (often called the soma), an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system.	
UBERON:0001869	cerebral hemisphere	biolink:AnatomicalEntity	mondo			hemispherium cerebri|hemisphere|nucleus amygdaloideus medialis|medial amygdalar nucleus|cerebrum|nucleus medialis amygdalae|hemispheric regions	http://purl.obolibrary.org/obo/UBERON_0001869	One of two bilateral, largely symmetrical organ subdivisions within the telencephalon which contain the cerebral cortex and cerebral white matter.[FMA]	
UBERON:0001866	sebum	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0001866	Fatty lubricant matter secreted by sebaceous glands, and made of made of triglyceride oils, wax, squalene, and metabolytes of fat-producing cells[BTO,WP].	
UBERON:0001868	skin of chest	biolink:AnatomicalEntity	mondo			front of thorax zone of skin|chest zone of skin|zone of skin of pectoral part of chest|chest skin|zone of skin of anterolateral part of thorax|anterior thoracic region zone of skin|zone of skin of anterior part of thorax|zone of skin of chest|zone of skin of front of thorax|zone of skin of anterior thoracic region|anterolateral part of thorax zone of skin|zone of skin of anterior chest	http://purl.obolibrary.org/obo/UBERON_0001868	A zone of skin that is part of a chest [Automatically generated definition].	
UBERON:0001867	cartilage of external ear	biolink:AnatomicalEntity	mondo			external ear cartilage	http://purl.obolibrary.org/obo/UBERON_0001867	A cartilage that is part of a external ear [Automatically generated definition].	
GO:0012505	endomembrane system	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0012505	A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles.	
GO:0012506	vesicle membrane	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0012506	The lipid bilayer surrounding any membrane-bounded vesicle in the cell.	
GO:0012501	programmed cell death	biolink:OntologyClass	mondo			PCD|nonapoptotic programmed cell death|non-apoptotic programmed cell death|caspase-independent cell death|caspase-independent apoptosis|RCD|regulated cell death	http://purl.obolibrary.org/obo/GO_0012501	A process which begins when a cell receives an internal or external signal and activates a series of biochemical events (signaling pathway). The process ends with the death of the cell.	
UBERON:0001872	parietal lobe	biolink:AnatomicalEntity	mondo			lobus parietalis|parietal region|regio parietalis	http://purl.obolibrary.org/obo/UBERON_0001872	Upper central part of the cerebral hemisphere. (MSH)	
UBERON:0001871	temporal lobe	biolink:AnatomicalEntity	mondo			temporal cortex|lobus temporalis	http://purl.obolibrary.org/obo/UBERON_0001871	Lower lateral part of the cerebral hemisphere. (MSH)	
UBERON:0001870	frontal cortex	biolink:AnatomicalEntity	mondo			cortex of frontal lobe|gray matter of frontal lobe|frontal neocortex|frontal lobe cortex|grey matter of frontal lobe	http://purl.obolibrary.org/obo/UBERON_0001870	Anterior portion of the neocortex, lying anterior to the central sulcus in humans. It is bounded by the parietal cortex posteriorly and the temporal cortex laterally[NIFSTD,modified].	
HGNC:8507	OSMR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8507		
UBERON:0001862	vestibular labyrinth	biolink:AnatomicalEntity	mondo			vestibular apparatus|labyrinthus vestibularis|vestibular component|inner ear vestibular component	http://purl.obolibrary.org/obo/UBERON_0001862	The part of the membranous labyrinth that includes the utricle and saccule lodged within the vestibule and the semicircular ducts lodged eccentrically in the corresponding canals.	
UBERON:0001860	endolymphatic duct	biolink:AnatomicalEntity	mondo			ductus endolymphaticus|ductus endolymphaticus	http://purl.obolibrary.org/obo/UBERON_0001860	the small membranous canal, connecting with both saccule and utricle of the membranous labyrinth, passing through the aqueduct of vestibule, and terminating in the endolymphatic sac	
UBERON:0001848	auricular cartilage	biolink:AnatomicalEntity	mondo			pinna cartilage|cartilage of pinna	http://purl.obolibrary.org/obo/UBERON_0001848	cartilage of the pinna and much of the external ear canal.	
UBERON:0001849	membranous labyrinth	biolink:AnatomicalEntity	mondo			labyrinthus membranaceus	http://purl.obolibrary.org/obo/UBERON_0001849	Organ with organ cavity which consists of the vestibular labyrinth and the cochlear labyrinth. The membranous labyrinth is lodged within the bony labyrinth and has the same general form; it is, however, considerably smaller and is partly separated from the bony walls by a quantity of fluid, the perilymph.[FMA, WP]	
UBERON:0001844	cochlea	biolink:AnatomicalEntity	mondo			cochlear duct|cochleae|lagenas|cochlear part of bony labyrinth|cochlear organ|lagena	http://purl.obolibrary.org/obo/UBERON_0001844	the spiral-shaped bony canal in the inner ear containing the hair cells that transduce sound. Its core component is the Organ of Corti, the sensory organ of hearing, which is distributed along the partition separating fluid chambers in the coiled tapered tube of the cochlea. [WP,modified].	
UBERON:0001846	internal ear	biolink:AnatomicalEntity	mondo			auris interna|otocyst|inner ear|labyrinth	http://purl.obolibrary.org/obo/UBERON_0001846	Complex labyrinthine structure that comprises sensory endorgans specialized for vestibular, auditory, and acoustico-vestibular sensation.	
CHEBI:24261	glucocorticoid	biolink:ChemicalSubstance	mondo			glucocorticoids	http://purl.obolibrary.org/obo/CHEBI_24261	Glucocorticoids are a class of steroid hormones that regulate a variety of physiological processes, in particular control of the concentration of glucose in blood.	
HGNC:8512	OTC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8512		
HGNC:8515	OTOF	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8515		
HGNC:8516	OTOG	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8516		
UBERON:0001851	cortex	biolink:AnatomicalEntity	mondo			cortex of organ|cortex	http://purl.obolibrary.org/obo/UBERON_0001851	Outermost layer of an organ[WP].	
UBERON:0001850	lacrimal drainage system	biolink:AnatomicalEntity	mondo			tear duct|lacrimal duct	http://purl.obolibrary.org/obo/UBERON_0001850	A collection of channels that connects the conjunctival sac with the nasal cavity, encompassing the lacrimal ducts, the lacrimal sac and the naso-lacrimal duct.	
UBERON:0001837	duct of salivary gland	biolink:AnatomicalEntity	mondo			secretory duct|salivary duct|salivary gland duct	http://purl.obolibrary.org/obo/UBERON_0001837	The duct of a salivary gland.	
UBERON:0001836	saliva	biolink:AnatomicalEntity	mondo			saliva atomaris|sailva normalis|saliva molecularis|salivary gland secretion	http://purl.obolibrary.org/obo/UBERON_0001836	A fluid produced in the oral cavity by salivary glands, typically used in predigestion, but also in other functions.	
UBERON:0001839	bony labyrinth	biolink:AnatomicalEntity	mondo			osseous labyrinth|labyrinthus osseus|osseus labyrinth	http://purl.obolibrary.org/obo/UBERON_0001839	A system of fluid passages in the inner ear, including both the cochlea, which is part of the auditory system, and the vestibular system, which provides the sense of balance. The bony labyrinth, or osseous labyrinth, is the network of passages with bony walls lined with periosteum. The bony labyrinth is lined with the membranous labyrinth. There is a layer of perilymph between them. The three parts of the bony labyrinth are the vestibule of the ear, the semicircular canals, and the cochlea. The vestibular system is the region of the inner ear where the semicircular canals converge, close to the cochlea (the hearing organ). The vestibular system works with the visual system to keep objects in focus when the head is moving. Joint and muscle receptors also are important in maintaining balance. The brain receives, interprets, and processes the information from these systems that control our balance. [WP,unvetted].	
UBERON:0001838	sublingual duct	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0001838	A duct of a sublingual gland.	
UBERON:0001833	lip	biolink:AnatomicalEntity	mondo			labia oris|lips	http://purl.obolibrary.org/obo/UBERON_0001833	One of the two fleshy folds which surround the opening of the mouth.	
UBERON:0001832	sublingual gland	biolink:AnatomicalEntity	mondo			ductus sublingualis|sublingual salivary gland|submaxillary gland|Rivinus gland|glandula sublingualis|Rivinus' gland	http://purl.obolibrary.org/obo/UBERON_0001832	the small mucin-producing salivary glands in the floor of the mouth beneath the tongue, anterior to the submandibular gland	
UBERON:0001835	lower lip	biolink:AnatomicalEntity	mondo			lower jaw lip|labium inferius oris	http://purl.obolibrary.org/obo/UBERON_0001835	Lip that covers the lower portion of the mouth.[TAO].	
UBERON:0001834	upper lip	biolink:AnatomicalEntity	mondo			upper jaw lip|labium superius oris	http://purl.obolibrary.org/obo/UBERON_0001834	Lip that covers the upper portion of the mouth.[TAO].	
HGNC:8527	OXCT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8527		
HP:0008669	Abnormal spermatogenesis	biolink:PhenotypicFeature	mondo	UMLS:C0520933|SNOMEDCT_US:4529005|UMLS:C4020789		Impaired spermatogenesis|Abnormal sperm development	http://purl.obolibrary.org/obo/HP_0008669	Incomplete maturation or aberrant formation of the male gametes.	
UBERON:0001840	semicircular canal	biolink:AnatomicalEntity	mondo			scc|canalis semicircularis|semicircular canals|semicircular ducts|ductus semicirculares	http://purl.obolibrary.org/obo/UBERON_0001840	One of three half-circular, interconnected tubes located inside each ear[WP].	
HGNC:8522	OTX2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8522		
HP:0006000	Ureteral obstruction	biolink:PhenotypicFeature	mondo	Fyler:4492|UMLS:C0041956|MSH:D014517|SNOMEDCT_US:20018005			http://purl.obolibrary.org/obo/HP_0006000	Obstruction of the flow of urine through the ureter.	
GO:0048469	cell maturation	biolink:OntologyClass	mondo			functional differentiation	http://purl.obolibrary.org/obo/GO_0048469	A developmental process, independent of morphogenetic (shape) change, that is required for a cell to attain its fully functional state.	
GO:0048468	cell development	biolink:OntologyClass	mondo			terminal differentiation	http://purl.obolibrary.org/obo/GO_0048468	The process whose specific outcome is the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate.	
GO:0061448	connective tissue development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0061448	The progression of a connective tissue over time, from its formation to the mature structure.	
GO:1903649	regulation of cytoplasmic transport	biolink:OntologyClass	mondo			regulation of cytoplasmic streaming	http://purl.obolibrary.org/obo/GO_1903649	Any process that modulates the frequency, rate or extent of cytoplasmic transport.	
HGNC:23089	SLC13A5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23089		
HGNC:23088	SLC10A7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23088		
GO:1903650	negative regulation of cytoplasmic transport	biolink:OntologyClass	mondo			downregulation of cytoplasmic transport|inhibition of cytoplasmic transport|downregulation of cytoplasmic streaming|inhibition of cytoplasmic streaming|down-regulation of cytoplasmic transport|negative regulation of cytoplasmic streaming|down-regulation of cytoplasmic streaming|down regulation of cytoplasmic transport|down regulation of cytoplasmic streaming	http://purl.obolibrary.org/obo/GO_1903650	Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic transport.	
HGNC:23096	SLC29A3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23096		
HGNC:23094	SLC16A12	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23094		
GO:1903651	positive regulation of cytoplasmic transport	biolink:OntologyClass	mondo			up-regulation of cytoplasmic transport|up-regulation of cytoplasmic streaming|up regulation of cytoplasmic transport|up regulation of cytoplasmic streaming|activation of cytoplasmic transport|positive regulation of cytoplasmic streaming|upregulation of cytoplasmic transport|upregulation of cytoplasmic streaming|activation of cytoplasmic streaming	http://purl.obolibrary.org/obo/GO_1903651	Any process that activates or increases the frequency, rate or extent of cytoplasmic transport.	
MONDO:0014499	intellectual disability, autosomal recessive 46	biolink:Disease	mondo	OMIM:616116|UMLS:C4015283		intellectual disability, autosomal recessive 46|MRT46|mental retardation, autosomal recessive 46; MRT46|intellectual disability, autosomal recessive 46; MRT46|NDST1 autosomal recessive non-syndromic intellectual disability|autosomal recessive non-syndromic intellectual disability caused by mutation in NDST1|intellectual disability, autosomal recessive type 46|mental retardation, autosomal recessive type 46|mental retardation, autosomal recessive 46	http://purl.obolibrary.org/obo/MONDO_0014499	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NDST1 gene.	UMLS:C4015283|http://identifiers.org/omim/616116
MONDO:0014498	familial cold autoinflammatory syndrome 4	biolink:Disease	mondo	Orphanet:576349|OMIM:616115|DOID:0090065|UMLS:C4015276|ICD10:L50.2	ordo_disease	familial cold autoinflammatory syndrome type 4|familial cold autoinflammatory syndrome 4; FCAS4|NLRC4 familial cold autoinflammatory syndrome|familial cold autoinflammatory syndrome 4|FCAS4|NLRC4-related familial cold autoinflammatory syndrome|familial cold autoinflammatory syndrome caused by mutation in NLRC4	http://purl.obolibrary.org/obo/MONDO_0014498	Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRC4 gene.	UMLS:C4015276|DOID:0090065|http://identifiers.org/omim/616115|ORPHA:576349
MONDO:0014493	autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	biolink:Disease	mondo	GARD:0012316|UMLS:C4015214|NCIT:C126341|OMIM:616100|Orphanet:436159|ICD10:D47.9	gard_rare|ordo_disease	ALPS type V|autoimmune lymphoproliferative syndrome, type V; ALPS5|ALPS type 5|ALPS due to CTLA4 haploinsuffiency|chai|CTLA4 haploinsufficiency|autoimmune lymphoproliferative syndrome, type V|autoimmune lymphoproliferative syndrome, type 5|CTLA4 haploinsufficiency with autoimmune infiltration|autoimmune lymphoproliferative syndrome type V|autoimmune lymphoproliferative syndrome type 5|ALPS5|CTLA-4 haploinsufficiency with autoimmune infiltration disease	http://purl.obolibrary.org/obo/MONDO_0014493	A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V.	ORPHA:436159|UMLS:C4015214|NCIT:C126341|http://identifiers.org/omim/616100
MONDO:0014492	woolly hair-palmoplantar keratoderma syndrome	biolink:Disease	mondo	Orphanet:420686|UMLS:C4015202|OMIM:616099|SCTID:764108000|ICD10:Q82.8	ordo_disease	palmoplantar keratoderma and woolly hair|palmoplantar keratoderma and woolly hair; PPKWH|KWWH type IV|woolly hair-palmoplantar hyperkeratosis syndrome|PPKWH|keratoderma with woolly hair type IV	http://purl.obolibrary.org/obo/MONDO_0014492	Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.	UMLS:C4015202|SNOMEDCT:764108000|http://identifiers.org/omim/616099|ORPHA:420686
MONDO:0014491	immunodeficiency 37	biolink:Disease	mondo	UMLS:C4015195|OMIM:616098		BCL10 primary immunodeficiency disease|immunodeficiency 37; IMD37|IMD37|primary immunodeficiency disease caused by mutation in BCL10|immunodeficiency 37|immunodeficiency type 37	http://purl.obolibrary.org/obo/MONDO_0014491	Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL10 gene.	UMLS:C4015195|http://identifiers.org/omim/616098
MONDO:0014490	ketoacidosis due to monocarboxylate transporter-1 deficiency	biolink:Disease	mondo	Orphanet:438075|ICD10:E88.8|UMLS:C4015186|OMIM:616095	ordo_disease	monocarboxylate transporter 1 deficiency|MCT1D|monocarboxylate transporter 1 deficiency; MCT1D	http://purl.obolibrary.org/obo/MONDO_0014490		UMLS:C4015186|http://identifiers.org/omim/616095|ORPHA:438075
MONDO:0014497	polyendocrine-polyneuropathy syndrome	biolink:Disease	mondo	Orphanet:453533|OMIM:616113|UMLS:C4015261	ordo_disease	PEPNS|polyendocrine-polyneuropathy syndrome|polyendocrine-polyneuropathy syndrome; PEPNS	http://purl.obolibrary.org/obo/MONDO_0014497		UMLS:C4015261|ORPHA:453533|http://identifiers.org/omim/616113
MONDO:0014496	mitochondrial complex III deficiency nuclear type 9	biolink:Disease	mondo	OMIM:616111|UMLS:C4015253|DOID:0080118		mitochondrial complex III deficiency caused by mutation in UQCC3|MC3DN9|mitochondrial complex III deficiency, nuclear type 9|mitochondrial complex III deficiency, nuclear type 9; MC3DN9|mitochondrial Complex 3 deficiency, nuclear type 9|UQCC3 mitochondrial complex III deficiency	http://purl.obolibrary.org/obo/MONDO_0014496	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC3 gene.	DOID:0080118|UMLS:C4015253|http://identifiers.org/omim/616111
MONDO:0014495	retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	biolink:Disease	mondo	ICD10:Q87.8|UMLS:C4015242|Orphanet:436245|OMIM:616108	ordo_disease	RDJCSS|retinal dystrophy-juvenile cataract-short stature syndrome|retinal dystrophy, juvenile cataracts, and short stature syndrome; RDJCSS|retinal dystrophy, juvenile cataracts, and short stature syndrome	http://purl.obolibrary.org/obo/MONDO_0014495		ORPHA:436245|UMLS:C4015242|http://identifiers.org/omim/616108
MONDO:0014494	psoriasis 15, pustular, susceptibility to	biolink:Disease	mondo	DOID:0111281|OMIM:616106	predisposition	psoriasis 15, pustular, susceptibility to; PSORS15|susceptibility to pustular psoriasis 15|AP1S3 generalized pustular psoriasis|generalized pustular psoriasis caused by mutation in AP1S3|psoriasis 15, pustular, susceptibility to|PSORS15	http://purl.obolibrary.org/obo/MONDO_0014494	Any generalized pustular psoriasis in which the cause of the disease is a mutation in the AP1S3 gene.	DOID:0111281|http://identifiers.org/omim/616106
UBERON:0001902	epithelium of small intestine	biolink:AnatomicalEntity	mondo			epithelial tissue of small intestine|small intestine epithelial tissue|small intestine epithelium|small intestinal epithelium|mid intestine epithelium|epithelium of small bowel|epithelial tissue of small bowel|small bowel epithelial tissue|small bowel epithelium	http://purl.obolibrary.org/obo/UBERON_0001902	An epithelium that is part of a small intestine [Automatically generated definition].	
UBERON:0001905	pineal body	biolink:AnatomicalEntity	mondo			frontal organ|pineal gland (Galen)|Pi|glandula pinealis|pineal gland|pineal organ|conarium|epiphysis cerebri|stirnorgan|pineal|epiphysis|corpus pineale	http://purl.obolibrary.org/obo/UBERON_0001905	A midline, cone like structure located in the dorso-caudal roof of the 3rd ventricle, attached by peduncles to the habenular and posterior commissures. The stalk contains nerve fibers, blood vessels, connective tissue and parenchymal cells (Paxinos, The Rat Central Nervous System, 2nd ed, pg 399).	
UBERON:0001901	epithelium of trachea	biolink:AnatomicalEntity	mondo			trachea epithelial tissue|epithelial tissue of windpipe|epithelium of windpipe|trachea epithelium|windpipe epithelium|epithelial tissue of trachea|tracheal epithelium|windpipe epithelial tissue	http://purl.obolibrary.org/obo/UBERON_0001901	the epithelial lining of the trachea which contains numerous ciliated cells	
HGNC:23063	NUDT15	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23063		
HGNC:23068	TRAPPC2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23068		
UBERON:0001908	optic tract	biolink:AnatomicalEntity	mondo			optic tracts|optic lemniscus|tractus opticus|visual pathway|tractus optici	http://purl.obolibrary.org/obo/UBERON_0001908	Diencephalic white matter (tract) which is comprised of retinal ganglion cell axons after which they have passed through the optic chiasm[ZFA]. Predominantly white matter structure found in diencephalon consisting of fibers originating in the retina. The optic tract is considered to extend from the point of the optic chiasm and terminates largely, although not exclusively, in the lateral geniculate complex. Other fibers end in the superior colliculus and other structures in the diencephalon, midbrain and brainstem (MM)[NIF].	
GO:1901019	regulation of calcium ion transmembrane transporter activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1901019	Any process that modulates the frequency, rate or extent of calcium ion transmembrane transporter activity.	
HP:0008609	Morphological abnormality of the middle ear	biolink:PhenotypicFeature	mondo	UMLS:C1857456		Middle ear malformation|Morphological abnormality of the middle ear	http://purl.obolibrary.org/obo/HP_0008609	An abnormality of the morphology or structure of the middle ear.	
GO:1901020	negative regulation of calcium ion transmembrane transporter activity	biolink:OntologyClass	mondo			inhibition of calcium ion transmembrane transporter activity|down-regulation of calcium ion transmembrane transporter activity|downregulation of calcium ion transmembrane transporter activity|down regulation of calcium ion transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_1901020	Any process that stops, prevents or reduces the frequency, rate or extent of calcium ion transmembrane transporter activity.	
NCBITaxon:554915	Amoebozoa	organism taxon	mondo	PMID:30257078|PMID:23020233|GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_554915		
NCBITaxon:1933187	Rift Valley fever phlebovirus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1933187		
GO:1901021	positive regulation of calcium ion transmembrane transporter activity	biolink:OntologyClass	mondo			upregulation of calcium ion transmembrane transporter activity|up regulation of calcium ion transmembrane transporter activity|up-regulation of calcium ion transmembrane transporter activity|activation of calcium ion transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_1901021	Any process that activates or increases the frequency, rate or extent of calcium ion transmembrane transporter activity.	
HGNC:11094	SNAI2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11094		
HGNC:11098	SMARCA2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11098		
UBERON:5106048	digit 1 digitopodial skeleton	biolink:AnatomicalEntity	mondo			digit 1 skeleton|digit 1|digit I digitopodial skeleton	http://purl.obolibrary.org/obo/UBERON_5106048	A subdivision of the skeleton of the autopod consisting of the phalanges of digit 1 plus the associated metapodial element.	
HGNC:23041	PDSS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23041		
HGNC:23044	NANOS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23044		
HGNC:11067	SLC7A9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11067		
HGNC:11065	SLC7A7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11065		
NCBITaxon:12506		organism taxon	mondo				http://purl.obolibrary.org/obo/NCBITaxon_12506		
HGNC:23056	ALG3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23056		
UBERON:5106052	digit 5 digitopodial skeleton	biolink:AnatomicalEntity	mondo			digit 5|digit 5 skeleton|digit V digitopodial skeleton	http://purl.obolibrary.org/obo/UBERON_5106052	A subdivision of the skeleton of the autopod consisting of the phalanges of digit 5 plus the associated metapodial element.	
HGNC:11079	SLC9A6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11079		
HGNC:11073	SLC9A3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11073		
HGNC:11071	SLC9A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11071		
SO:0000400	sequence_attribute	biolink:SequenceFeature	mondo			sequence attribute	http://purl.obolibrary.org/obo/SO_0000400	An attribute describes a quality of sequence.	
HGNC:11075	SLC9A3R1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11075		
SO:0000401	gene_attribute	biolink:SequenceFeature	mondo			gene attribute	http://purl.obolibrary.org/obo/SO_0000401	An attribute describing a gene.	
MONDO:0002457	Treacher-Collins syndrome	biolink:Disease	mondo	NCIT:C75018|DOID:2908|Orphanet:861|GARD:0009124|MedDRA:10051456|ICD10:Q75.4|OMIMPS:154500|UMLS:C0265241|SCTID:62767009	ordo_malformation_syndrome|prototype_pattern	Franceschetti syndrome|mandibulofacial dysostosis without limb anomalies|Treacher Collins syndrome|TCOF|MFD1|Franceschetti-Klein syndrome|TCS|mandibulofacial dysostosis	http://purl.obolibrary.org/obo/MONDO_0002457	Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.	ORPHA:861|DOID:2908|SNOMEDCT:62767009|UMLS:C0265241|NCIT:C75018|MEDDRA:10051456
MONDO:0002458	obsolete acute pancreatitis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002458		
MONDO:0002459	type IV hypersensitivity disease	biolink:Disease	mondo	ICD10:C88.9|UMLS:C0020522|DOID:2916|NCIT:C3115		type IV hypersensitivity reaction|delayed hypersensitivity reaction|DTH|type 4 hypersensitivity reaction|delayed-type hypersensitivity response|immunoproliferative disease|type IV hypersensitivity|delayed-type hypersensitivity|disorder of type IV hypersensitivity|disorder of type IV hypersensitivity|hypersensitivity reaction type IV disease	http://purl.obolibrary.org/obo/MONDO_0002459	A disease that has its basis in the disruption of type IV hypersensitivity.	DOID:2916|NCIT:C3115|UMLS:C0020522
HGNC:23026	GNPTG	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23026		
MONDO:0002453	retrocochlear disease	biolink:Disease	mondo	UMLS:C0035352|DOID:2889|MESH:D012181			http://purl.obolibrary.org/obo/MONDO_0002453	Pathological processes involving the vestibulocochlear nerve; brainstem; or central nervous system. When hearing loss is due to retrocochlear pathology, it is called retrocochlear hearing loss.	UMLS:C0035352|DOID:2889|MESH:D012181
HGNC:8490	ORC4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8490		
MONDO:0002454	thyroid adenoma (disease)	biolink:Disease	mondo	UMLS:C0151468|DOID:2891|SCTID:255033000|HP:0000854		thyroid adenoma|thyroid gland adenoma|adenoma of thyroid gland	http://purl.obolibrary.org/obo/MONDO_0002454	A adenoma that involves the thyroid gland.	DOID:2891|UMLS:C0151468|SNOMEDCT:255033000
MONDO:0002455	exocervical carcinoma	biolink:Disease	mondo	DOID:2892|UMLS:C1299238|NCIT:C7453|SCTID:372100004		exocervix carcinoma|exocervical cancer|exocervical carcinoma|carcinoma of the exocervix|carcinoma of exocervix|carcinoma of ectocervix|ectocervix carcinoma	http://purl.obolibrary.org/obo/MONDO_0002455	A carcinoma that arises from the squamous epithelium of the exocervix.	NCIT:C7453|DOID:2892|UMLS:C1299238|SNOMEDCT:372100004
MONDO:0026426	X inactivation, familial skewed, 2	biolink:Disease	mondo	OMIM:300179		X INACTIVATION, FAMILIAL SKEWED, 2; SXI2|X-inactivation, familial skewed, 2	http://purl.obolibrary.org/obo/MONDO_0026426		http://identifiers.org/omim/300179
MONDO:0002456	obsolete cervix carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002456		
MONDO:0002450	prostatic adenoma	biolink:Disease	mondo	UMLS:C0520477|ICD9:600.20|NCIT:C4795|DOID:2883|SCTID:21173002		benign adenoma of prostate|adenoma of prostate|prostate adenoma|prostate gland adenoma|adenoma - prostate|adenoma of the prostate	http://purl.obolibrary.org/obo/MONDO_0002450	Focal benign glandular hyperplasia in the prostate gland.	DOID:2883|UMLS:C0520477|NCIT:C4795|SNOMEDCT:21173002
UBERON:0035286	lateral wall of oropharynx	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0035286		
UBERON:0035289	axillary tail of breast	biolink:AnatomicalEntity	mondo			axillary tail of Spence|axillary tail|processus axillaris (glandula mammaria)|axillary process|tail of Spence	http://purl.obolibrary.org/obo/UBERON_0035289	An extension of the tissue of the breast which extends into the axilla.	
MONDO:0002451	benign prostate phyllodes tumor	biolink:Disease	mondo	NCIT:C5532|DOID:2885|UMLS:C1332535		benign prostate phyllodes tumor|prostate phyllodes tumor|benign phyllodes neoplasm of prostate|benign phyllodes neoplasm of the prostate|prostate phyllodes tumor, benign|phyllodes neoplasm of the prostate|benign phyllodes tumor of prostate|benign phyllodes tumor of the prostate|benign prostate phyllodes neoplasm	http://purl.obolibrary.org/obo/MONDO_0002451	A rare benign neoplasm that arises from the prostate gland and is characterized by the presence of hyperplastic glands and stroma that contains spindle-shaped cells.	DOID:2885|NCIT:C5532|UMLS:C1332535
MONDO:0002452	prostate leiomyoma	biolink:Disease	mondo	UMLS:C1335510|DOID:2887|NCIT:C5544		leiomyoma of the prostate|leiomyoma of prostate gland|prostate leiomyoma|prostate gland leiomyoma|prostatic leiomyoma|leiomyoma of prostate	http://purl.obolibrary.org/obo/MONDO_0002452	A benign smooth muscle neoplasm arising from the prostate. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOID:2887|NCIT:C5544|UMLS:C1335510
MONDO:0014446	Bardet-Biedl syndrome 18	biolink:Disease	mondo	ICD10:Q87.89|OMIM:615995|DOID:0110140|UMLS:C3806174		BBIP1 Bardet-Biedl syndrome|Bardet-Biedl syndrome type 18|Bardet-Biedl syndrome caused by mutation in BBIP1|Bardet-Biedl syndrome 18|BBS18|Bardet-Biedl syndrome 18; BBS18	http://purl.obolibrary.org/obo/MONDO_0014446	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene.	DOID:0110140|UMLS:C3806174|http://identifiers.org/omim/615995
HGNC:11049	SLC6A3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11049		
MONDO:0014445	Bardet-Biedl syndrome 17	biolink:Disease	mondo	DOID:0110139|UMLS:C3714980|OMIM:615994|ICD10:Q87.89		BBS17|LZTFL1 Bardet-Biedl syndrome|Bardet-Biedl syndrome 17|Bardet-Biedl syndrome caused by mutation in LZTFL1|Bardet-Biedl syndrome type 17|Bardet-Biedl syndrome 17; BBS17	http://purl.obolibrary.org/obo/MONDO_0014445	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the LZTFL1 gene.	DOID:0110139|http://identifiers.org/omim/615994|UMLS:C3714980
GO:2000064	regulation of cortisol biosynthetic process	biolink:OntologyClass	mondo			regulation of cortisol synthesis|regulation of cortisol anabolism|regulation of cortisol formation|regulation of cortisol biosynthesis	http://purl.obolibrary.org/obo/GO_2000064	Any process that modulates the frequency, rate or extent of cortisol biosynthetic process.	
HGNC:11048	SLC6A2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11048		
MONDO:0014444	Bardet-Biedl syndrome 16	biolink:Disease	mondo	OMIM:615993|DOID:0110138|UMLS:C3889474|ICD10:Q87.89	clingen	Bardet-Biedl syndrome 16|BBS16|SDCCAG8 Bardet-Biedl syndrome|Bardet-Biedl syndrome type 16|Bardet-Biedl syndrome 16; BBS16|Bardet-Biedl syndrome caused by mutation in SDCCAG8	http://purl.obolibrary.org/obo/MONDO_0014444	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene.	UMLS:C3889474|http://identifiers.org/omim/615993|DOID:0110138
GO:2000065	negative regulation of cortisol biosynthetic process	biolink:OntologyClass	mondo			negative regulation of cortisol biosynthesis|negative regulation of cortisol synthesis|negative regulation of cortisol anabolism|negative regulation of cortisol formation	http://purl.obolibrary.org/obo/GO_2000065	Any process that stops, prevents, or reduces the frequency, rate or extent of cortisol biosynthetic process.	
GO:2000066	positive regulation of cortisol biosynthetic process	biolink:OntologyClass	mondo			positive regulation of cortisol formation|positive regulation of cortisol biosynthesis|positive regulation of cortisol synthesis|positive regulation of cortisol anabolism	http://purl.obolibrary.org/obo/GO_2000066	Any process that activates or increases the frequency, rate or extent of cortisol biosynthetic process.	
MONDO:0014443	Bardet-Biedl syndrome 15	biolink:Disease	mondo	OMIM:615992|DOID:0110137|UMLS:C3150127|ICD10:Q87.89		Bardet-Biedl syndrome 15|BBS15|Bardet-Biedl syndrome type 15|WDPCP Bardet-Biedl syndrome|Bardet-Biedl syndrome 15; BBS15|Bardet-Biedl syndrome caused by mutation in WDPCP	http://purl.obolibrary.org/obo/MONDO_0014443	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the WDPCP gene.	http://identifiers.org/omim/615992|UMLS:C3150127|DOID:0110137
MONDO:0014449	congenital analbuminemia	biolink:Disease	mondo	ICD10:R77.0|UMLS:C4305253|SCTID:718721006|GARD:0013056|OMIM:616000|Orphanet:86816|NCIT:C124851	ordo_disease|gard_rare	analbuminemia|ANALBA|analbuminemia; ANALBA	http://purl.obolibrary.org/obo/MONDO_0014449	Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).	http://identifiers.org/omim/616000|NCIT:C124851|UMLS:C4305253|SNOMEDCT:718721006|ORPHA:86816
MONDO:0014448	hyperthyroxinemia, familial dysalbuminemic	biolink:Disease	mondo	NCIT:C131813|MESH:D050010|SCTID:237547004|OMIM:615999		hyperthyroxinemia, familial dysalbuminemic; FDAH|familial Dysalbuminemic hyperthyroxinemia|FDAH|euthyroid hyperthyroxinemia 1|familial Dysalbuminemic hyperthyroidism|FDH|hyperthyroxinemia, familial Dysalbuminemic	http://purl.obolibrary.org/obo/MONDO_0014448	An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum thyroxine; (T4) in euthyroid patients with abnormal serum albumin that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and tsh are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the alb gene on chromosome 4.	NCIT:C131813|SNOMEDCT:237547004|MESH:D050010|http://identifiers.org/omim/615999
MONDO:0014447	Bardet-Biedl syndrome 19	biolink:Disease	mondo	UMLS:C3889475|OMIM:615996|ICD10:Q87.89|DOID:0110141		Bardet-Biedl syndrome 19; BBS19|Bardet-Biedl syndrome type 19|Bardet-Biedl syndrome caused by mutation in IFT27|Bardet-Biedl syndrome 19|BBS19|IFT27 Bardet-Biedl syndrome	http://purl.obolibrary.org/obo/MONDO_0014447	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT27 gene.	DOID:0110141|UMLS:C3889475|http://identifiers.org/omim/615996
HGNC:11040	SLC5A5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11040		
MONDO:0014442	Bardet-Biedl syndrome 14	biolink:Disease	mondo	DOID:0110136|MESH:C567141|OMIM:615991|ICD10:Q87.89|UMLS:C2673874	clingen	Bardet-Biedl syndrome 14|Bardet-Biedl syndrome type 14|Bardet-Biedl syndrome 14; BBS14|BBS14	http://purl.obolibrary.org/obo/MONDO_0014442	A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21.	UMLS:C2673874|http://identifiers.org/omim/615991|MESH:C567141|DOID:0110136
MONDO:0014441	Bardet-Biedl syndrome 13	biolink:Disease	mondo	DOID:0110135|OMIM:615990|MESH:C567140|ICD10:Q87.89|UMLS:C2673873		Bardet-Biedl syndrome caused by mutation in MKS1|Bardet-Biedl syndrome 13|Bardet-Biedl syndrome type 13|Bardet-Biedl syndrome 13; BBS13|MKS1 Bardet-Biedl syndrome|BBS13	http://purl.obolibrary.org/obo/MONDO_0014441	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene.	UMLS:C2673873|http://identifiers.org/omim/615990|MESH:C567140|DOID:0110135
MONDO:0014440	Bardet-Biedl syndrome 12	biolink:Disease	mondo	DOID:0110134|EFO:0009023|MESH:C565921|ICD10:Q87.89|UMLS:C1859570|OMIM:615989|GARD:0010211		Bardet-Biedl syndrome 12; BBS12|BBS12 Bardet-Biedl syndrome|BBS12|Bardet-Biedl syndrome caused by mutation in BBS12|Bardet-Biedl syndrome 12|Bardet-Biedl syndrome type 12	http://purl.obolibrary.org/obo/MONDO_0014440	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS12 gene.	http://identifiers.org/omim/615989|UMLS:C1859570|DOID:0110134|MESH:C565921
HGNC:11042	SLC6A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11042		
CHEBI:26833	sulfur atom	biolink:ChemicalSubstance	mondo			Schwefel|theion|S|Elemental sulfur|soufre|sulphur|sulfur|16S|azufre|sulfur	http://purl.obolibrary.org/obo/CHEBI_26833		
MONDO:0002468	hyperimmunoglobulin syndrome	biolink:Disease	mondo	DOID:2959|NCIT:C27579|UMLS:C1334069		hyperimmunoglobulin syndrome	http://purl.obolibrary.org/obo/MONDO_0002468		NCIT:C27579|DOID:2959|UMLS:C1334069
HGNC:23038	LMBRD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23038		
MONDO:0002469	lacrimal gland carcinoma ex pleomorphic adenoma	biolink:Disease	mondo	UMLS:C0346342|DOID:296|NCIT:C6804|SCTID:254989000		malignant mixed neoplasm of the lacrimal gland|lacrimal gland carcinoma ex pleomorphic adenoma|carcinoma Ex pleomorphic adenoma of the lacrimal gland|malignant mixed tumor of lacrimal gland|malignant mixed tumor of the lacrimal gland|mixed lacrimal gland cancer|carcinoma ex pleomorphic adenoma of lacrimal gland|carcinoma ex pleomorphic adenoma of the lacrimal gland|malignant mixed neoplasm of lacrimal gland|lacrimal gland malignant mixed neoplasm|lacrimal gland malignant mixed tumor	http://purl.obolibrary.org/obo/MONDO_0002469	A carcinoma arising in a pre-existing pleomorphic adenoma in the lacrimal gland.	SNOMEDCT:254989000|NCIT:C6804|UMLS:C0346342|DOID:296
CHEBI:26835	sulfur molecular entity	biolink:ChemicalSubstance	mondo			sulfur molecular entities|sulfur molecular entity	http://purl.obolibrary.org/obo/CHEBI_26835		
MONDO:0002464	lacrimal gland cancer	biolink:Disease	mondo	NCIT:C3563|SCTID:127004000|ICD9:190.2|COHD:4092530|DOID:294|ICD9:239.89		malignant tumour of lacrimal gland|cancer of lacrimal gland|malignant neoplasm of lacrimal gland|malignant tumor of lacrimal gland|malignant tumor of the lacrimal gland|lacrimal gland cancer|malignant lacrimal gland tumor|malignant neoplasm of the lacrimal gland|tumor of the lacrimal gland|malignant lacrimal gland neoplasm|neoplasm of lacrimal gland	http://purl.obolibrary.org/obo/MONDO_0002464	A malignant neoplasm involving the lacrimal gland.	SNOMEDCT:127004000|NCIT:C3563|DOID:294
MONDO:0002465	bronchiolitis (disease)	biolink:Disease	mondo	NCIT:C39658|HP:0011950|UMLS:C0006271|ICD9:466.19|DOID:2942|MESH:D001988|SCTID:4120002		viral bronchiolitis|RSV bronchiolitis|wheezy bronchitis|bronchiolitis	http://purl.obolibrary.org/obo/MONDO_0002465	Inflammation of the bronchioles characterized by swelling of the bronchioles and mucus accumulation. It is usually caused by the respiratory syncytial virus and affects children. Signs and symptoms include coughing, wheezing, and shortness of breath.	UMLS:C0006271|SNOMEDCT:4120002|NCIT:C39658|DOID:2942|MESH:D001988
MONDO:0002466	eye carcinoma	biolink:Disease	mondo	UMLS:C0848866|DOID:295|NCIT:C6079		ocular carcinoma|carcinoma of eye|eyeball of camera-type eye carcinoma|carcinoma of the eye|eye carcinoma|carcinoma of eyeball of camera-type eye	http://purl.obolibrary.org/obo/MONDO_0002466	A carcinoma that arises from epithelial cells of the eye	NCIT:C6079|UMLS:C0848866|DOID:295
MONDO:0002467	inner ear disease	biolink:Disease	mondo	ICD10:H83.90|MESH:D007759|ICD10:H83.9|NCIT:C27166|DOID:2952|SCTID:232297009|ICD10:H80-H83|ICD10:H80.H83		internal Ear disorder|internal ear disease or disorder|disorder of internal ear|labyrinthine disease|disease of internal ear|disease or disorder of internal ear|disorder of internal ear|vestibular disorder|internal ear disease|inner Ear disorder	http://purl.obolibrary.org/obo/MONDO_0002467	A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems.	MESH:D007759|NCIT:C27166|SNOMEDCT:232297009|DOID:2952
UBERON:0035295	left ear	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0035295	The organ of hearing located on the left side of the head[ncit,modified].	
MONDO:0002460	lacrimal system cancer	biolink:Disease	mondo	NCIT:C5102|UMLS:C1334361|DOID:292|SCTID:416510003		lacrimal apparatus cancer|malignant lacrimal apparatus neoplasm|cancer of lacrimal apparatus|neoplasm of the lacrimal system|neoplasm of lacrimal system|lacrimal system tumor|lacrimal system neoplasm|lacrimal system neoplasms|malignant neoplasm of lacrimal apparatus|tumor of the lacrimal system|tumor of lacrimal system	http://purl.obolibrary.org/obo/MONDO_0002460	A cancer that involves the lacrimal apparatus.	UMLS:C1334361|SNOMEDCT:416510003|DOID:292|NCIT:C5102
UBERON:0035298	tuberculum sellae	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0035298	An elevated zone of the sella turcica behind the chiasmatic groove[WP,modified].	
MONDO:0002461	membranoproliferative glomerulonephritis (disease)	biolink:Disease	mondo	HP:0000793|DOID:2920		membranoproliferative glomerulonephritis|lobular glomerulonephritis|chronic glomerulonephritis, lobular	http://purl.obolibrary.org/obo/MONDO_0002461	Inflammation of the glomeruli characterized by deposits at the intraglomerular mesangium, resulting in thickening of the glomerular basement membrane, activation of complement, and impaired kidney function secondary to damaged glomeruli.	DOID:2920
MONDO:0002462	glomerulonephritis (disease)	biolink:Disease	mondo	ICD9:583.9|UMLS:C0017658|NCIT:C26784|ICD10:N05|HP:0000099|DOID:2921|GARD:0006516|SCTID:36171008|MESH:D005921|ICD10:N08		renal glomerulus nephritis|glomerulonephritis|bright's disease|nephritis of renal glomerulus|glomerular nephritis	http://purl.obolibrary.org/obo/MONDO_0002462	A renal disorder characterized by damage in the glomeruli. It may be acute or chronic, focal or diffuse, and it may lead to renal failure. Causes include autoimmune disorders, infections, diabetes, and malignancies.	DOID:2921|NCIT:C26784|UMLS:C0017658|MESH:D005921|SNOMEDCT:36171008
MONDO:0014429	autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency	biolink:Disease	mondo	UMLS:C4014863|ICD10:D84.8|OMIM:615978|Orphanet:319581	ordo_disease|predisposition	immunodeficiency 27B|immunodeficiency type 27B|autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency|IFNGR1 deficiency, autosomal dominant|autosomal dominant MSMD due to partial IFNgammaR1 deficiency|immunodeficiency 27B; IMD27B|IFNGR1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency|autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1|immunodeficiency 27B, Mycobacteriosis, autosomal dominant|autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency|IMD27B	http://purl.obolibrary.org/obo/MONDO_0014429	Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM).	UMLS:C4014863|http://identifiers.org/omim/615978|ORPHA:319581
MONDO:0002463	lacrimal gland carcinoma	biolink:Disease	mondo	UMLS:C1334358|NCIT:C6129|DOID:293		carcinoma of the lacrimal gland|carcinoma of lacrimal gland|lacrimal gland carcinoma	http://purl.obolibrary.org/obo/MONDO_0002463	A carcinoma that arises from epithelial cells of the lacrimal gland.	UMLS:C1334358|DOID:293|NCIT:C6129
HGNC:25695	CARS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25695		
MONDO:0014435	Bardet-Biedl syndrome 7	biolink:Disease	mondo	DOID:0110129|ICD10:Q87.89|MESH:C565916|EFO:0009026|UMLS:C1859565|GARD:0010206|OMIM:615984	gard_rare	BBS7 Bardet-Biedl syndrome|Bardet-Biedl syndrome 7|BBS7|Bardet-Biedl syndrome type 7|Bardet-Biedl syndrome caused by mutation in BBS7|Bardet-Biedl syndrome 7; BBS7	http://purl.obolibrary.org/obo/MONDO_0014435	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS7 gene.	DOID:0110129|MESH:C565916|UMLS:C1859565|http://identifiers.org/omim/615984
MONDO:0014434	Bardet-Biedl syndrome 5	biolink:Disease	mondo	OMIM:615983|DOID:0110127|EFO:0009025|UMLS:C3892039|GARD:0010204|ICD10:Q87.89	gard_rare	Bardet-Biedl syndrome 5; BBS5|Bardet-Biedl syndrome 5|BBS5 Bardet-Biedl syndrome|Bardet-Biedl syndrome type 5|BBS5|Bardet-Biedl syndrome caused by mutation in BBS5	http://purl.obolibrary.org/obo/MONDO_0014434	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS5 gene.	DOID:0110127|UMLS:C3892039|http://identifiers.org/omim/615983
MONDO:0014433	Bardet-Biedl syndrome 4	biolink:Disease	mondo	OMIM:615982|DOID:0110126|UMLS:C2936864|EFO:0009024|GARD:0000823|ICD10:Q87.89|MESH:C537912	gard_rare	Bardet-Biedl syndrome 4; BBS4|Bardet-Biedl syndrome 4|Bardet-Biedl syndrome type 4|BBS4	http://purl.obolibrary.org/obo/MONDO_0014433		MESH:C537912|DOID:0110126|http://identifiers.org/omim/615982|UMLS:C2936864
MONDO:0014432	Bardet-Biedl syndrome 2	biolink:Disease	mondo	DOID:0110124|OMIM:615981|UMLS:C2936863|GARD:0000821|ICD10:Q87.89|MESH:C537910		Bardet-Biedl syndrome|Bardet-Biedl syndrome 2; BBS2|Bardet-Biedl syndrome type 2|Bardet-Biedl syndrome 2|BBS2|BBS2 Bardet-Biedl syndrome|BBS|Bardet-Biedl syndrome caused by mutation in BBS2	http://purl.obolibrary.org/obo/MONDO_0014432	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS2 gene.	DOID:0110124|http://identifiers.org/omim/615981|UMLS:C2936863|MESH:C537910
MONDO:0014439	Bardet-Biedl syndrome 11	biolink:Disease	mondo	GARD:0010210|OMIM:615988|UMLS:C1859569|DOID:0110133|ICD10:Q87.89|MESH:C565920		Bardet-Biedl syndrome caused by mutation in TRIM32|Bardet-Biedl syndrome type 11|Bardet-Biedl syndrome 11|Bardet-Biedl syndrome 11; BBS11|TRIM32 Bardet-Biedl syndrome|BBS11	http://purl.obolibrary.org/obo/MONDO_0014439	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene.	DOID:0110133|MESH:C565920|http://identifiers.org/omim/615988|UMLS:C1859569
MONDO:0014438	Bardet-Biedl syndrome 10	biolink:Disease	mondo	MESH:C565919|OMIM:615987|UMLS:C1859568|GARD:0010209|DOID:0110132|ICD10:Q87.89|EFO:0009022		BBS10|Bardet-Biedl syndrome type 10|Bardet-Biedl syndrome 10; BBS10|Bardet-Biedl syndrome 10|BBS10 Bardet-Biedl syndrome|Bardet-Biedl syndrome caused by mutation in BBS10	http://purl.obolibrary.org/obo/MONDO_0014438	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS10 gene.	DOID:0110132|MESH:C565919|UMLS:C1859568|http://identifiers.org/omim/615987
MONDO:0014437	Bardet-Biedl syndrome 9	biolink:Disease	mondo	MESH:C565918|EFO:0009027|OMIM:615986|UMLS:C1859567|ICD10:Q87.89|GARD:0010208|DOID:0110131	gard_rare	Bardet-Biedl syndrome type 9|BBS9 Bardet-Biedl syndrome|Bardet-Biedl syndrome 9|Bardet-Biedl syndrome caused by mutation in BBS9|Bardet-Biedl syndrome 9; BBS9|BBS9	http://purl.obolibrary.org/obo/MONDO_0014437	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS9 gene.	DOID:0110131|MESH:C565918|http://identifiers.org/omim/615986|UMLS:C1859567
MONDO:0014436	Bardet-Biedl syndrome 8	biolink:Disease	mondo	MESH:C565917|OMIM:615985|ICD10:Q87.89|UMLS:C1859566|GARD:0010207|DOID:0110130	gard_rare	BBS8|Bardet-Biedl syndrome type 8|TTC8 Bardet-Biedl syndrome|Bardet-Biedl syndrome 8|Bardet-Biedl syndrome caused by mutation in TTC8|Bardet-Biedl syndrome 8; BBS8	http://purl.obolibrary.org/obo/MONDO_0014436	Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TTC8 gene.	DOID:0110130|MESH:C565917|UMLS:C1859566|http://identifiers.org/omim/615985
HGNC:11051	SLC6A5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11051		
HGNC:11050	SLC6A4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11050		
MONDO:0014431	LIPE-related familial partial lipodystrophy	biolink:Disease	mondo	OMIM:615980|UMLS:C4014869|Orphanet:435660|DOID:0070206|ICD10:E88.1|GARD:0013126	ordo_disease|gard_rare	lipodystrophy, familial partial, type 6|LIPE-related FPLD|lipodystrophy, familial partial, associated with Lipe mutations|lipodystrophy, familial partial, type 6; FPLD6|familial partial lipodystrophy associated with LIPE mutations|FPLD6|familial partial lipodystrophy type 6	http://purl.obolibrary.org/obo/MONDO_0014431		ORPHA:435660|UMLS:C4014869|DOID:0070206|http://identifiers.org/omim/615980
HGNC:11056	SLC6A9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11056		
MONDO:0014430	intellectual disability, autosomal recessive 45	biolink:Disease	mondo	OMIM:615979|UMLS:C4014864		mental retardation, autosomal recessive 45; MRT45|MRT45|FBXO31 autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive type 45|mental retardation, autosomal recessive 45|intellectual disability, autosomal recessive 45|mental retardation, autosomal recessive type 45|intellectual disability, autosomal recessive 45; MRT45|autosomal recessive non-syndromic intellectual disability caused by mutation in FBXO31	http://purl.obolibrary.org/obo/MONDO_0014430	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FBXO31 gene.	UMLS:C4014864|http://identifiers.org/omim/615979
HGNC:11055	SLC6A8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11055		
MONDO:0002435	oculomotor nerve neoplasm	biolink:Disease	mondo	ICD9:239.7|NCIT:C6994|DOID:2817|SCTID:126969002|UMLS:C1263895		neoplasm of oculomotor nerve|oculomotor nerve tumor|IIIrd cranial nerve tumor|cranial nerve III tumor|oculomotor nerve neoplasm|tumor of oculomotor nerve|oculomotor nerve neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0002435	A neoplasm involving a oculomotor nerve.	SNOMEDCT:126969002|DOID:2817|NCIT:C6994|UMLS:C1263895
MONDO:0002436	nasal disorder	biolink:Disease	mondo	MESH:D009668|UMLS:C0028432|DOID:2825|ICD9:478.19|SCTID:89488007|COHD:4229909		nasal disorder|disorder of the nose|nose disease or disorder|disorder of nose|nose disease|disease or disorder of nose|disease of nose|disorder of nose	http://purl.obolibrary.org/obo/MONDO_0002436	A disease involving the nose.	SNOMEDCT:89488007|MESH:D009668|DOID:2825|UMLS:C0028432
MONDO:0002437	dehydration polycythemia	biolink:Disease	mondo	UMLS:C0856815|NCIT:C27310|DOID:2833			http://purl.obolibrary.org/obo/MONDO_0002437	Polycythemia resulting from dehydration.	UMLS:C0856815|NCIT:C27310|DOID:2833
MONDO:0002438	acquired polycythemia	biolink:Disease	mondo	ICD9:289.0|ICD10:D75.1|DOID:2834		acquired polycythemia|polycythemia, secondary|secondary polycythemia|acquired polycythemia (disease)	http://purl.obolibrary.org/obo/MONDO_0002438	An instance of polycythemia that is acquired during the lifetime of the individual.	DOID:2834
MONDO:0002431	obsolete nonspecific interstitial pneumonia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002431		
MONDO:0002432	malignant neoplasm of acoustic nerve	biolink:Disease	mondo	SCTID:254980001|UMLS:C0346331|ICD10:C72.4|NCIT:C4539|DOID:2814		vestibulocochlear nerve cancer|malignant neoplasm of the acoustic nerve|malignant acoustic nerve tumor|malignant tumor of vestibulocochlear nerve|malignant neoplasm of eighth cranial nerve|cancer of the vestibulocochlear nerve|malignant eighth cranial nerve neoplasm|malignant eighth cranial nerve tumor|malignant vestibulocochlear nerve neoplasm|malignant neoplasm of the eighth cranial nerve|malignant acoustic nerve neoplasm|malignant neoplasm of vestibulocochlear nerve|malignant tumor of the vestibulocochlear nerve|malignant neoplasm of the vestibulocochlear nerve|malignant tumor of acoustic vestibular nerve|malignant tumor of acoustic nerve|malignant tumor of the acoustic nerve|cancer of vestibulocochlear nerve|malignant vestibulocochlear nerve tumor|malignant tumor of eighth cranial nerve|malignant tumor of the eighth cranial nerve|malignant tumour of acoustic vestibular nerve	http://purl.obolibrary.org/obo/MONDO_0002432	A malignant neoplasm involving the vestibulocochlear nerve.	SNOMEDCT:254980001|DOID:2814|NCIT:C4539|UMLS:C0346331
SO:0000460	vertebrate_immunoglobulin_T_cell_receptor_segment	biolink:SequenceFeature	mondo			vertebrate_immunoglobulin/T-cell receptor gene|vertebrate immunoglobulin T cell receptor segment	http://purl.obolibrary.org/obo/SO_0000460	Germline genomic DNA with the sequence for a V, D, C, or J portion of an immunoglobulin/T-cell receptor.	
MONDO:0002433	malignant cranial nerve neoplasm	biolink:Disease	mondo	ICD10:C72.50|NCIT:C3571|SCTID:188307009|UMLS:C0153644|ICD9:192.0|DOID:2815		malignant tumor of the cranial nerve|malignant neoplasm of cranial nerve|malignant neoplasm of cranial nerves|malignant neoplasm of the cranial nerve|malignant cranial nerve tumor|malignant tumor of cranial nerve|cranial nerve malignant neoplasm|malignant cranial nerve neoplasm|cranial nerve neoplasm, malignant|cancer of cranial nerve|cranial nerve cancer	http://purl.obolibrary.org/obo/MONDO_0002433	Abnormal malignant growth of the cells that comprise the cranial nerve.	SNOMEDCT:188307009|DOID:2815|UMLS:C0153644|NCIT:C3571
MONDO:0026404	X inactivation, familial skewed, 1	biolink:Disease	mondo	OMIM:300087		X INACTIVATION, FAMILIAL SKEWED, 1; SXI1|X-inactivation, familial skewed, 1	http://purl.obolibrary.org/obo/MONDO_0026404		http://identifiers.org/omim/300087
MONDO:0002434	oculomotor nerve cancer	biolink:Disease	mondo	SCTID:93929003|NCIT:C6995|DOID:2816|UMLS:C0686417		cancer of oculomotor nerve|primary malignant neoplasm of oculomotor nerve|oculomotor nerve neoplasm, malignant|malignant oculomotor nerve tumor|oculomotor nerve cancer|malignant neoplasm of oculomotor nerve|malignant oculomotor nerve neoplasm|IIIrd cranial nerve neoplasm, malignant	http://purl.obolibrary.org/obo/MONDO_0002434	A cancer involving a oculomotor nerve.	UMLS:C0686417|DOID:2816|NCIT:C6995|SNOMEDCT:93929003
UBERON:0011298	submucosa of uterine tube	biolink:AnatomicalEntity	mondo			tela submucosa tubae uterinae|submucous layer of uterine tube|submucosa of fallopian tube|uterine submucosa	http://purl.obolibrary.org/obo/UBERON_0011298	The submucous layer of the wall of the uterine tube.	
HGNC:25660	TTC21B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25660		
MONDO:0014419	ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	biolink:Disease	mondo	UMLS:C4014821|OMIM:615960|Orphanet:370022|ICD10:G11.1	ordo_disease	Poretti-Boltshauser syndrome|PORETTI-Boltshauser syndrome|PORETTI-Boltshauser syndrome; PTBHS|PTBHS	http://purl.obolibrary.org/obo/MONDO_0014419	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.	http://identifiers.org/omim/615960|UMLS:C4014821|ORPHA:370022
MONDO:0002430	obsolete acute interstitial pneumonia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002430		
MONDO:0014418	myopathy, centronuclear, 5	biolink:Disease	mondo	OMIM:615959|UMLS:C4014814|DOID:0111222		CNM5|myopathy, centronuclear, 5; CNM5|SPEG autosomal recessive centronuclear myopathy|myopathy, centronuclear, type 5|autosomal recessive centronuclear myopathy caused by mutation in SPEG|myopathy, centronuclear, 5	http://purl.obolibrary.org/obo/MONDO_0014418	Any autosomal recessive centronuclear myopathy in which the cause of the disease is a mutation in the SPEG gene.	DOID:0111222|UMLS:C4014814|http://identifiers.org/omim/615959
HGNC:25662	AAGAB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25662		
UBERON:0011299	white matter of telencephalon	biolink:AnatomicalEntity	mondo			telencephalic white matter|telencephalic tract/commissure|predominantly white regional part of telencephalon|telencephalic tracts	http://purl.obolibrary.org/obo/UBERON_0011299	A partion of white matter that is part of a telencephalon. This can be further subdivided in some species, for example, into hemisphere white matter and the corpus callosum.	
MONDO:0014424	congenital deficiency in alpha-fetoprotein	biolink:Disease	mondo	MESH:C566300|UMLS:C1863081|OMIM:615969|Orphanet:168612	ordo_biological_anomaly	ALPHA-fetoprotein deficiency; AFPD|ALPHA-fetoprotein deficiency|AFPD	http://purl.obolibrary.org/obo/MONDO_0014424	Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate.	MESH:C566300|ORPHA:168612|UMLS:C1863081|http://identifiers.org/omim/615969
HGNC:11027	SLC4A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11027		
MONDO:0014423	severe combined immunodeficiency due to DNA-PKcs deficiency	biolink:Disease	mondo	SCTID:716871006|OMIM:615966|ICD10:D81.1|UMLS:C4014833|Orphanet:317425	ordo_disease	immunodeficiency 26 with or without neurologic abnormalities; IMD26|IMD26|immunodeficiency 26 with or without neurologic abnormalities|SCID due to DNA-PKcs deficiency	http://purl.obolibrary.org/obo/MONDO_0014423	Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.	UMLS:C4014833|SNOMEDCT:716871006|http://identifiers.org/omim/615966|ORPHA:317425
MONDO:0014422	vesicoureteral reflux 8	biolink:Disease	mondo	OMIM:615963|UMLS:C4014831		vesicoureteral reflux (disease) caused by mutation in TNXB|vesicoureteral reflux type 8|VUR8|vesicoureteral reflux 8|vesicoureteral reflux 8; VUR8|TNXB vesicoureteral reflux (disease)	http://purl.obolibrary.org/obo/MONDO_0014422	Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene.	UMLS:C4014831|http://identifiers.org/omim/615963
HGNC:11025	SLC3A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11025		
MONDO:0014421	glucocorticoid resistance	biolink:Disease	mondo	MESH:C564221|GARD:0002499|UMLS:C1841972|Orphanet:786|ICD10:E25.8|OMIM:615962	ordo_disease|gard_rare	GCCR|cortisol resistance from glucocorticoid receptor defect|Gcr deficiency|glucocorticoid receptor deficiency|glucocorticoid resistance, generalized; GCCR|Gccr deficiency|glucocorticoid resistance, generalized|Grl deficiency	http://purl.obolibrary.org/obo/MONDO_0014421		ORPHA:786|MESH:C564221|UMLS:C1841972|http://identifiers.org/omim/615962
MONDO:0014428	autosomal recessive nonsyndromic deafness 102	biolink:Disease	mondo	OMIM:615974|UMLS:C3892050|ICD10:H90.3|DOID:0110463		deafness, autosomal recessive type 102|deafness, autosomal recessive 102; DFNB102|autosomal recessive nonsyndromic deafness type 102|autosomal recessive nonsyndromic deafness caused by mutation in EPS8|DFNB102|EPS8 autosomal recessive nonsyndromic deafness|autosomal recessive deafness 102|deafness, autosomal recessive 102	http://purl.obolibrary.org/obo/MONDO_0014428	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 gene.	DOID:0110463|UMLS:C3892050|http://identifiers.org/omim/615974
MONDO:0014427	cone-rod dystrophy 20	biolink:Disease	mondo	OMIM:615973|DOID:0111026|UMLS:C4014856		POC1B cone-rod dystrophy|cone-rod dystrophy type 20|cone-rod dystrophy 20; CORD20|cone-rod dystrophy 20|CORD20|cone-rod dystrophy caused by mutation in POC1B	http://purl.obolibrary.org/obo/MONDO_0014427	Any cone-rod dystrophy in which the cause of the disease is a mutation in the POC1B gene.	DOID:0111026|UMLS:C4014856|http://identifiers.org/omim/615973
MONDO:0014426	nanophthalmos 4	biolink:Disease	mondo	OMIM:615972|UMLS:C4014848		nanophthalmos 4; NNO4|nanophthalmia caused by mutation in TMEM98|nanophthalmos type 4|Nanophthalmia 4|NNO4|TMEM98 nanophthalmia|nanophthalmos 4	http://purl.obolibrary.org/obo/MONDO_0014426	Any nanophthalmia in which the cause of the disease is a mutation in the TMEM98 gene.	UMLS:C4014848|http://identifiers.org/omim/615972
MONDO:0014425	hereditary persistence of alpha-fetoprotein	biolink:Disease	mondo	OMIM:615970|SCTID:716697002|Orphanet:168615	ordo_biological_anomaly	ALPHA-fetoprotein, hereditary persistence OF; HPAFP|ALPHA-fetoprotein, hereditary persistence OF|HPAFP	http://purl.obolibrary.org/obo/MONDO_0014425	Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy	ORPHA:168615|SNOMEDCT:716697002|http://identifiers.org/omim/615970
MONDO:0002428	protozoa infectious disease	biolink:Disease	mondo	MESH:D011528|DOID:2789|NCIT:C34953|ICD10:B64|ICD10:B50-B64		protozoal infection|parasitic protozoa infectious disease|Mastigophora infectious disease|sarcomastigophora infectious disease	http://purl.obolibrary.org/obo/MONDO_0002428	An infection that is caused by protozoans.	NCIT:C34953|MESH:D011528|DOID:2789
MONDO:0014420	short stature due to primary acid-labile subunit deficiency	biolink:Disease	mondo	SCTID:721074002|UMLS:C3900122|ICD10:E34.3|Orphanet:140941|OMIM:615961	ordo_disease	ACLSD|acid-labile SUBUNIT deficiency|acid-labile SUBUNIT deficiency; ACLSD	http://purl.obolibrary.org/obo/MONDO_0014420	Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity.	UMLS:C3900122|http://identifiers.org/omim/615961|SNOMEDCT:721074002|ORPHA:140941
HGNC:11023	SLC35A3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11023		
MONDO:0002429	idiopathic interstitial pneumonia	biolink:Disease	mondo	ICD10:J84.114|SCTID:700249006|ICD10:J84.11|DOID:2797|MESH:D054988|UMLS:C2350236|Orphanet:98300|ICD10:J84.112|NCIT:C35714	ordo_group_of_disorders	idiopathic fibrosing alveolitis|noninfectious pneumonia|IIp|IPF|diffuse idiopathic pulmonary fibrosis	http://purl.obolibrary.org/obo/MONDO_0002429	A class of diffuse lung diseases that typically affect the pulmonary interstitium, although some also have a component affecting the airways (for instance, Cryptogenic organizing pneumonitis).	UMLS:C2350236|ORPHA:98300|NCIT:C35714|MESH:D054988|DOID:2797|SNOMEDCT:700249006
HGNC:11022	SLC35A2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11022		
HGNC:11021	SLC35A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11021		
HGNC:11020	SLC34A2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11020		
HGNC:13681	DCHS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13681		
NCBITaxon:12542	Omsk hemorrhagic fever virus	organism taxon	mondo	GC_ID:1		Omsk haemorrhagic fever virus|Omsk haemorrhagic fever virus OHF	http://purl.obolibrary.org/obo/NCBITaxon_12542		
MONDO:0002446	obsolete hemoglobinopathy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002446		
MONDO:0002447	endometrial carcinoma (disease)	biolink:Disease	mondo	SCTID:254878006|DOID:2871|HP:0012114|UMLS:C0476089|NCIT:C7558|ONCOTREE:UCEC		endometrial cancer|carcinoma, endometrial, malignant|endometrium carcinoma|endometrioid carcinoma|endometrioid carcinoma of female reproductive system|carcinoma of endometrium|carcinoma of the endometrium|endometrial carcinoma	http://purl.obolibrary.org/obo/MONDO_0002447	A malignant tumor arising from the epithelium that lines the cavity of the uterine body. The vast majority of endometrial carcinomas are adenocarcinomas; squamous cell and adenosquamous carcinomas represent a minority of the cases. Endometrioid adenocarcinoma is the most frequently seen variant of endometrial adenocarcinoma. Uterine bleeding is an initial clinical sign. The prognosis depends on the stage of the tumor, the depth of myometrial wall invasion, and the degree of differentiation.	NCIT:C7558|DOID:2871|SNOMEDCT:254878006|UMLS:C0476089
MONDO:0002448	laryngeal sarcoma	biolink:Disease	mondo	UMLS:C1334377|NCIT:C6020|DOID:2877		laryngeal sarcoma|sarcoma of larynx|larynx sarcoma|sarcoma of the larynx	http://purl.obolibrary.org/obo/MONDO_0002448	A rare malignant soft tissue neoplasm that arises from the larynx.	NCIT:C6020|DOID:2877|UMLS:C1334377
HGNC:25676	GORAB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25676		
MONDO:0002449	nodular degeneration of cornea	biolink:Disease	mondo	COHD:381296|UMLS:C0155122|SCTID:72620002|ICD9:371.46|ICD10:H18.45|DOID:2879			http://purl.obolibrary.org/obo/MONDO_0002449		SNOMEDCT:72620002|UMLS:C0155122|DOID:2879
HGNC:23015	FAM20A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23015		
MONDO:0002442	long QT syndrome	biolink:Disease	mondo	NCIT:C34786|UMLS:C0023976|COHD:314664|ICD9:426.82|MESH:D008133|DOID:2843|ICD10:I45.81		long Q-T syndrome|Romano-Ward syndrome|ventricular arrhythmia associated with long QT syndrome|LQT	http://purl.obolibrary.org/obo/MONDO_0002442	A condition that is characterized by episodes of fainting (syncope) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are Romano-Ward syndrome (also known as long QT syndrome 1) and Jervell-Lange Nielsen syndrome.	NCIT:C34786|DOID:2843|UMLS:C0023976|MESH:D008133
MONDO:0002443	bruxism (disease)	biolink:Disease	mondo	HP:0003763|ICD10:G47.63|DOID:2846|ICD10:F45.8|ICD9:327.53		bruxism - teeth grinding|grinding teeth|bruxism|sleep related bruxism|teeth grinding	http://purl.obolibrary.org/obo/MONDO_0002443	Excessive clenching of the jaw and grinding of the teeth.	NCIT:C73511|DOID:2846
UBERON:0011282	nail of pedal digit 5	biolink:AnatomicalEntity	mondo			nail of little toe|nail of pedal digit V|little toe nail|nail plate of little toe|claw of digit 5 of hind-paw|nail of fifth toe	http://purl.obolibrary.org/obo/UBERON_0011282	A nail that is part of a pedal digit 5.	
MONDO:0002444	melancholia	biolink:Disease	mondo	DOID:2848|NCIT:C34812		melancholic depression|depression with melancholic features	http://purl.obolibrary.org/obo/MONDO_0002444	A subtype of depression characterized by the inability to find pleasure in positive things combined with physical agitation, insomnia, or decreased appetite.	NCIT:C34812|DOID:2848
MONDO:0002445	obsolete hemoglobin c disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002445		
HGNC:25671	RNASEH2B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25671		
MONDO:0014409	intellectual disability, autosomal recessive 44	biolink:Disease	mondo	UMLS:C4014745|OMIM:615942		intellectual disability, autosomal recessive type 44|mental retardation, autosomal recessive 44; MRT44|autosomal recessive non-syndromic intellectual disability caused by mutation in METTL23|MRT44|intellectual disability, autosomal recessive 44|intellectual disability, autosomal recessive 44; MRT44|mental retardation, autosomal recessive type 44|METTL23 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive 44	http://purl.obolibrary.org/obo/MONDO_0014409	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the METTL23 gene.	http://identifiers.org/omim/615942|UMLS:C4014745
MONDO:0002440	erythropoietin polycythemia	biolink:Disease	mondo	UMLS:C0391869|DOID:2839|ICD10:D75.1|NCIT:C35434|SCTID:367328005		secondary polycythemia with excess erythropoietin|polycythaemia due to Excess erythropoetin production|polycythemia, nephrogenous|polycythemia due to excess erythopoetin production|nephrogenous polycythemia	http://purl.obolibrary.org/obo/MONDO_0002440	Polycythemia that is caused by excess erythropoietin.	SNOMEDCT:367328005|DOID:2839|NCIT:C35434|UMLS:C0391869
MONDO:0014408	megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	biolink:Disease	mondo	OMIM:615938|UMLS:C4014742		megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in CCND2|MPPH3|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 3|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3|CCND2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3; MPPH3	http://purl.obolibrary.org/obo/MONDO_0014408	Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the CCND2 gene.	http://identifiers.org/omim/615938|UMLS:C4014742
MONDO:0014407	megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	biolink:Disease	mondo	OMIM:615937|UMLS:C4014738		AKT3 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2|MPPH2|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2; MPPH2|megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in AKT3	http://purl.obolibrary.org/obo/MONDO_0014407	Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the AKT3 gene.	http://identifiers.org/omim/615937|UMLS:C4014738
MONDO:0002441	Jervell-Lange Nielsen syndrome	biolink:Disease	mondo	GARD:0003048|DOID:2842|MESH:D029593	gard_rare	prolonged QT interval in EKG and sudden death|Jervell and Lange-Nielson syndrome|Surdo-cardiac syndrome|JLNS1|Cardioauditory syndrome of Jervell and Lange-Nielsen|deafness, congenital, and functional heart disease|Jervell Lange-Nielsen syndrome	http://purl.obolibrary.org/obo/MONDO_0002441	An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome.	DOID:2842|MESH:D029593
UBERON:0011289	pharyngobasilar fascia	biolink:AnatomicalEntity	mondo			pharyngeal aponeurosis|pharyngeal aponeurosis	http://purl.obolibrary.org/obo/UBERON_0011289	The pharyngeal aponeurosis (or pharyngobasilar fascia, or fibrous coat), is situated between the mucous and muscular layers. It is thick above where the muscular fibers are wanting, and is firmly connected to the basilar portion of the occipital and the petrous portions of the temporal bones. As it descends it diminishes in thickness, and is gradually lost. It is strengthened posteriorly by a strong fibrous band, which is attached above to the pharyngeal spine on the under surface of the basilar portion of the occipital bone, and passes downward, forming a median raphe, which gives attachment to the Constrictores pharyngis.	
MONDO:0014413	orofaciodigital syndrome type 14	biolink:Disease	mondo	Orphanet:434179|ICD10:Q87.0|SCTID:763837007|UMLS:C4014780|OMIM:615948	ordo_malformation_syndrome	orofaciodigital syndrome type 14|orofaciodigital syndrome XIV|orofaciodigital syndrome XIV; OFD14|microcephaly-cerebral malformation-orofaciodigital syndrome|orofaciodigital syndrome 14|orofaciodigital syndrome caused by mutation in C2CD3|C2CD3 orofaciodigital syndrome|oral-facial-digital syndrome type 14|OFD14	http://purl.obolibrary.org/obo/MONDO_0014413	Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.	ORPHA:434179|UMLS:C4014780|http://identifiers.org/omim/615948|SNOMEDCT:763837007
MONDO:0014412	hyperlipoproteinemia, type 1D	biolink:Disease	mondo	OMIM:615947|Orphanet:535458|DOID:0111420|UMLS:C4014767	ordo_etiological_subtype	GPIHBP1 familial hyperlipidemia|familial hyperlipidemia caused by mutation in GPIHBP1|hyperlipoproteinemia, type ID	http://purl.obolibrary.org/obo/MONDO_0014412	Any familial hyperlipidemia in which the cause of the disease is a mutation in the GPIHBP1 gene.	DOID:0111420|UMLS:C4014767|ORPHA:535458|http://identifiers.org/omim/615947
HGNC:11037	SLC5A2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11037		
MONDO:0014411	myopia 24, autosomal dominant	biolink:Disease	mondo	UMLS:C4014762|OMIM:615946		myopia 24, autosomal dominant; MYP24|MYP24|myopia 24, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0014411		UMLS:C4014762|http://identifiers.org/omim/615946
HGNC:11036	SLC5A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11036		
MONDO:0014410	spinocerebellar ataxia type 37	biolink:Disease	mondo	DOID:0050984|ICD10:G11.8|UMLS:C3889636|GARD:0012368|SCTID:719301002|Orphanet:363710|OMIM:615945|UMLS:C4304821	ordo_disease	spinocerebellar ataxia 37; SCA37|spinocerebellar ataxia 37|spinocerebellar ataxia with altered vertical eye movements|SCA37	http://purl.obolibrary.org/obo/MONDO_0014410	Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by a cerebellar syndrome along with altered vertical eye movements.	ORPHA:363710|UMLS:C4304821|DOID:0050984|http://identifiers.org/omim/615945|SNOMEDCT:719301002|UMLS:C3889636
MONDO:0014417	spinocerebellar ataxia type 38	biolink:Disease	mondo	UMLS:C4518337|DOID:0050985|GARD:0012369|Orphanet:423296|OMIM:615957|ICD10:G11.8|SCTID:734021001|UMLS:C4014812|EFO:0009056	ordo_disease	spinocerebellar ataxia type 38|spinocerebellar ataxia 38; SCA38|SCA38|spinocerebellar ataxia 38	http://purl.obolibrary.org/obo/MONDO_0014417	Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy.	ORPHA:423296|DOID:0050985|UMLS:C4014812|SNOMEDCT:734021001|UMLS:C4518337|http://identifiers.org/omim/615957
MONDO:0014416	ACTH-independent macronodular adrenal hyperplasia 2	biolink:Disease	mondo	OMIM:615954|DOID:0111624|UMLS:C4014803		ARMC5 Cushing syndrome due to macronodular adrenal hyperplasia|AIMAH2|ACTH-independent macronodular adrenal hyperplasia type 2|Cushing syndrome due to macronodular adrenal hyperplasia caused by mutation in ARMC5|primary macronodular adrenal hyperplasia|ACTH-independent macronodular adrenal hyperplasia 2|ACTH-independent macronodular adrenal hyperplasia 2; AIMAH2	http://purl.obolibrary.org/obo/MONDO_0014416	Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the ARMC5 gene.	DOID:0111624|UMLS:C4014803|http://identifiers.org/omim/615954
MONDO:0014415	kallikrein, decreased urinary activity of	biolink:Disease	mondo	MESH:C563653|OMIM:615953		kallikrein, decreased urinary activity of	http://purl.obolibrary.org/obo/MONDO_0014415		MESH:C563653|http://identifiers.org/omim/615953
MONDO:0014414	STAT3-related early-onset multisystem autoimmune disease	biolink:Disease	mondo	OMIM:615952|ICD10:M35.8|UMLS:C4014795|Orphanet:438159	ordo_disease	autoimmune disease, multisystem, infantile-onset, 1|autoimmune disease, multisystem, infantile-onset; ADMIO|autoimmune disease, multisystem, infantile-onset|ADMIO1|ADMIO|autoimmune disease, multisystem, infantile-onset, 1; ADMIO1	http://purl.obolibrary.org/obo/MONDO_0014414		UMLS:C4014795|ORPHA:438159|http://identifiers.org/omim/615952
HGNC:11030	SLC4A4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11030		
MONDO:0002439	obsolete stress polycythemia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002439		
NCBITaxon:214035	Tunga penetrans	organism taxon	mondo	GC_ID:1		chigger|chigoe flea	http://purl.obolibrary.org/obo/NCBITaxon_214035		
SO:0000483	nc_primary_transcript	biolink:SequenceFeature	mondo			nc primary transcript|noncoding primary transcript	http://purl.obolibrary.org/obo/SO_0000483	A primary transcript that is never translated into a protein.	
MONDO:0002497	food allergy	biolink:Disease	mondo	MESH:D005512|COHD:4188027|EFO:1001890|DOID:3044|ICD9:995.3|SCTID:414285001		allergic disease from food material|food material allergic disease|allergy of food material|food hypersensitivity	http://purl.obolibrary.org/obo/MONDO_0002497	Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food.	DOID:3044|SNOMEDCT:414285001|MESH:D005512
MONDO:0002498	obsolete glioblastoma multiforme (disease)	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002498		
MONDO:0002499	obsolete astrocytoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002499		
UBERON:0035240	posterior wall of oropharynx	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0035240		
MONDO:0002493	prostatic acinar adenocarcinoma	biolink:Disease	mondo	UMLS:C1332139|NCIT:C5596|DOID:3024		prostate acinar adenocarcinoma|acinar adenocarcinoma of prostate|acinar adenocarcinoma of the prostate|acinar prostate adenocarcinoma|prostatic acinar adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002493	An invasive adenocarcinoma of the prostate gland composed of secretory cells. It is the most common histologic type of prostate adenocarcinoma. Several morphologic variants exist, including atrophic, pseudohyperplastic, foamy gland, and oncocytic variants.	UMLS:C1332139|DOID:3024|NCIT:C5596
GO:2000027	regulation of animal organ morphogenesis	biolink:OntologyClass	mondo			regulation of histogenesis and organogenesis	http://purl.obolibrary.org/obo/GO_2000027	Any process that modulates the frequency, rate or extent of animal organ morphogenesis.	
MONDO:0002494	substance-related disorder	biolink:Disease	mondo	MESH:D019966|NCIT:C92203|DOID:303		substance-related disorder	http://purl.obolibrary.org/obo/MONDO_0002494	A category of psychiatric disorders which include disorders related to the taking of a drug of abuse (including alcohol, prescribed medications and recreational drugs).	DOID:303|NCIT:C92203|MESH:D019966
MONDO:0002495	colon signet ring cell adenocarcinoma	biolink:Disease	mondo	NCIT:C7967|UMLS:C1707436|DOID:3033		signet Ring cell colon adenocarcinoma|colon signet ring adenocarcinoma|colon signet Ring cell adenocarcinoma|colonic signet Ring adenocarcinoma|signet Ring cell adenocarcinoma of the colon|signet Ring cell adenocarcinoma of colon|colonic signet Ring cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002495	An invasive adenocarcinoma of the colon characterized by the presence of malignant glandular epithelial cells which contain prominent intracytoplasmic mucin (signet ring cells). The signet ring cells constitute more than 50% of the malignant cells.	UMLS:C1707436|DOID:3033|NCIT:C7967
MONDO:0002496	submucosal invasive colon adenocarcinoma	biolink:Disease	mondo	NCIT:C38760|DOID:3038|UMLS:C1515024		submucosal invasive colon adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002496	An adenocarcinoma of the colon that has invaded into the submucosa.	NCIT:C38760|UMLS:C1515024|DOID:3038
MONDO:0002490	breast sarcoma	biolink:Disease	mondo	DOID:3017|NCIT:C4670|SCTID:278050001|UMLS:C0349667|ONCOTREE:PBS		sarcoma of breast|sarcoma of the breast|PBS|breast sarcoma	http://purl.obolibrary.org/obo/MONDO_0002490	A malignant mesenchymal neoplasm that arises from the breast. Representative examples include angiosarcoma, liposarcoma, leiomyosarcoma, rhabdomyosarcoma, and extraskeletal osteosarcoma.	SNOMEDCT:278050001|DOID:3017|UMLS:C0349667|NCIT:C4670
MONDO:0002491	substance abuse	biolink:Disease	mondo	COHD:4279309|ICD9:305.90|DOID:302|SCTID:66214007			http://purl.obolibrary.org/obo/MONDO_0002491	The use of a drug for a reason other than which it was intended or in a manner or in quantities other than directed.	SNOMEDCT:66214007|DOID:302|NCIT:C16522
HGNC:25640	UFSP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25640		
MONDO:0002492	acute kidney failure	biolink:Disease	mondo	NCIT:C26808|ICD10:N17|MESH:D058186|DOID:3021		acute renal failure|kidney failure, acute|ARF|acute kidney injury|AKI	http://purl.obolibrary.org/obo/MONDO_0002492	Sudden and sustained deterioration of the kidney function characterized by decreased glomerular filtration rate, increased serum creatinine or oliguria.	DOID:3021|MESH:D058186|NCIT:C26808
HGNC:11005	SLC2A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11005		
MONDO:0014489	limb-girdle muscular dystrophy due to POMK deficiency	biolink:Disease	mondo	Orphanet:445110|OMIM:616094|ICD10:G71.0|UMLS:C4015184	ordo_disease	muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12; MDDGC12|muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related|LGMD due to POMK deficiency|MDDGC12|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12	http://purl.obolibrary.org/obo/MONDO_0014489	Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence.	UMLS:C4015184|ORPHA:445110|http://identifiers.org/omim/616094
MONDO:0014488	diabetes mellitus, noninsulin-dependent, 5	biolink:Disease	mondo	OMIM:616087|UMLS:C4015183		NIDDM5|diabetes mellitus, noninsulin-dependent, 5|diabetes mellitus, noninsulin-dependent, type 5|TBC1D4 type 2 diabetes mellitus|type 2 diabetes mellitus caused by mutation in TBC1D4|diabetes mellitus, noninsulin-dependent, 5; NIDDM5	http://purl.obolibrary.org/obo/MONDO_0014488	Any type 2 diabetes mellitus in which the cause of the disease is a mutation in the TBC1D4 gene.	UMLS:C4015183|http://identifiers.org/omim/616087
MONDO:0014487	congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	biolink:Disease	mondo	OMIM:616084|Orphanet:369861|ICD10:D64.0|UMLS:C4015172|DOID:0080209	ordo_disease	SIFD syndrome|sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay|sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay; SIFD|SIFD	http://purl.obolibrary.org/obo/MONDO_0014487	Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia, characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful.	DOID:0080209|UMLS:C4015172|ORPHA:369861|http://identifiers.org/omim/616084
HGNC:13666	AAAS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13666		
GO:2000026	regulation of multicellular organismal development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000026	Any process that modulates the frequency, rate or extent of multicellular organismal development.	
HGNC:11006	SLC2A2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11006		
MONDO:0014482	intellectual disability, autosomal dominant 29	biolink:Disease	mondo	DOID:0070059|GARD:0013379|OMIM:616078|UMLS:C4015141	gard_rare	autosomal dominant intellectual disability 29|mental retardation, autosomal dominant 29; MRD29|SETBP1-related intellectual disability|autosomal dominant non-syndromic intellectual disability 29|intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in SETBP1|mental retardation, autosomal dominant type 29|SETBP1 related developmental delay|intellectual disability, autosomal dominant 29|intellectual disability, autosomal dominant 29; MRD29|SETBP1-related disorder|intellectual disability, autosomal dominant type 29|MRD29|SETBP1 disorder|autosomal dominant mental retardation 29|mental retardation, autosomal dominant 29|SETBP1 intellectual disability-expressive aphasia-facial dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0014482	Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the SETBP1 gene.	UMLS:C4015141|http://identifiers.org/omim/616078|DOID:0070059
MONDO:0014481	inflammatory skin and bowel disease, neonatal, 2	biolink:Disease	mondo	OMIM:616069|UMLS:C4015130		inflammatory skin and bowel disease, neonatal, type 2|inflammatory skin and bowel disease, neonatal, 2|neonatal inflammatory skin and bowel disease caused by mutation in EGFR|inflammatory skin and bowel disease, neonatal, 2; NISBD2|NISBD2|EGFR neonatal inflammatory skin and bowel disease	http://purl.obolibrary.org/obo/MONDO_0014481	Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the EGFR gene.	UMLS:C4015130|http://identifiers.org/omim/616069
MONDO:0014480	46,XY sex reversal 9	biolink:Disease	mondo	OMIM:616067|DOID:0111770|UMLS:C4015129		46,XY sex reversal 9|46,XY Sex reversal type 9|46,XY SEX reversal 9; SRXY9|SRXY9|46,XY Sex reversal, Zfpm2-related	http://purl.obolibrary.org/obo/MONDO_0014480		UMLS:C4015129|DOID:0111770|http://identifiers.org/omim/616067
MONDO:0014486	intellectual disability, autosomal dominant 30	biolink:Disease	mondo	DOID:0070060|OMIM:616083|UMLS:C4015167|GARD:0013136		mental retardation, autosomal dominant 30|autosomal dominant intellectual disability 30|intellectual disability, autosomal dominant type 30|autosomal dominant intellectual disability 30|intellectual disability, autosomal dominant 30; MRD30|autosomal dominant non-syndromic intellectual disability 30|autosomal dominant mental retardation 30|intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in ZMYND11|MRD30|mental retardation, autosomal dominant 30; MRD30|mental retardation, autosomal dominant type 30|ZMYND11 intellectual disability-expressive aphasia-facial dysmorphism syndrome|intellectual disability, autosomal dominant 30	http://purl.obolibrary.org/obo/MONDO_0014486	Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the ZMYND11 gene.	UMLS:C4015167|http://identifiers.org/omim/616083|DOID:0070060
MONDO:0014485	pontocerebellar hypoplasia, type 1C	biolink:Disease	mondo	OMIM:616081|UMLS:C4015160		EXOSC8 pontocerebellar hypoplasia type 1|PCH1C|pontocerebellar hypoplasia type 1 caused by mutation in EXOSC8|pontocerebellar hypoplasia, type 1C; PCH1C|hypomyelination with spinal muscular atrophy and cerebellar hypoplasia|pontocerebellar hypoplasia, type 1C	http://purl.obolibrary.org/obo/MONDO_0014485	Any pontocerebellar hypoplasia type 1 in which the cause of the disease is a mutation in the EXOSC8 gene.	UMLS:C4015160|http://identifiers.org/omim/616081
MONDO:0014484	microcephaly 12, primary, autosomal recessive	biolink:Disease	mondo	UMLS:C4015156|OMIM:616080|DOID:0070284		autosomal recessive primary microcephaly caused by mutation in CDK6|microcephaly 12, primary, autosomal recessive|MCPH12|CDK6 autosomal recessive primary microcephaly|microcephaly 12, primary, autosomal recessive; MCPH12	http://purl.obolibrary.org/obo/MONDO_0014484	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK6 gene.	UMLS:C4015156|http://identifiers.org/omim/616080|DOID:0070284
MONDO:0014483	retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies	biolink:Disease	mondo	UMLS:C4015146|OMIM:616079|Orphanet:397758|ICD10:H35.5	ordo_disease	retinal dystrophy with inner nuclear layer and ganglion cell anomalies|RDGCA|retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities; RDGCA|retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities	http://purl.obolibrary.org/obo/MONDO_0014483		UMLS:C4015146|http://identifiers.org/omim/616079|ORPHA:397758
MONDO:0014479	porokeratosis 8, disseminated superficial actinic type	biolink:Disease	mondo	OMIM:616063|UMLS:C4015128		POROK8|porokeratosis 8, disseminated superficial actinic type|porokeratosis 8, disseminated superficial actinic type; POROK8	http://purl.obolibrary.org/obo/MONDO_0014479		UMLS:C4015128|http://identifiers.org/omim/616063
MONDO:0014478	mirror movements 3	biolink:Disease	mondo	UMLS:C4015124|OMIM:616059		MRMV3|mirror movements 3; MRMV3|familial congenital mirror movements caused by mutation in DNAL4|mirror movements 3|mirror movements type 3|DNAL4 familial congenital mirror movements	http://purl.obolibrary.org/obo/MONDO_0014478	Any familial congenital mirror movements in which the cause of the disease is a mutation in the DNAL4 gene.	UMLS:C4015124|http://identifiers.org/omim/616059
MONDO:0014477	developmental and epileptic encephalopathy, 26	biolink:Disease	mondo	OMIM:616056|GARD:0012391|UMLS:C4015119|DOID:0080461	gard_rare	KCNB1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 26; EIEE26|epileptic encephalopathy, early infantile, 26|epileptic encephalopathy, early infantile, type 26|DEE26|EIEE26|early infantile epileptic encephalopathy caused by mutation in KCNB1|early infantile epileptic encephalopathy 26	http://purl.obolibrary.org/obo/MONDO_0014477	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNB1 gene.	UMLS:C4015119|DOID:0080461|http://identifiers.org/omim/616056
MONDO:0014476	episodic ataxia type 8	biolink:Disease	mondo	UMLS:C4015108|ICD10:G11.8|Orphanet:401953|DOID:0050996|OMIM:616055	ordo_disease	episodic ataxia with slurred speech|episodic ataxia, type 8; EA8|episodic ataxia type 8|episodic ataxia, type 8|EA8	http://purl.obolibrary.org/obo/MONDO_0014476		ORPHA:401953|UMLS:C4015108|DOID:0050996|http://identifiers.org/omim/616055
HGNC:11013	SLC30A2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11013		
GO:2000035	regulation of stem cell division	biolink:OntologyClass	mondo			regulation of stem cell renewal	http://purl.obolibrary.org/obo/GO_2000035	Any process that modulates the frequency, rate or extent of stem cell division.	
HGNC:11019	SLC34A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11019		
CHEBI:73182	plant activator	biolink:ChemicalSubstance	mondo			plant activators	http://purl.obolibrary.org/obo/CHEBI_73182	Any compound that protects plants by activating their defence mechanisms.	
CHEBI:73181	EC 1.11.1.11 (L-ascorbate peroxidase) inhibitor	biolink:ChemicalSubstance	mondo			EC 1.11.1.11 inhibitors|ascorbic acid peroxidase inhibitors|L-ascorbic acid peroxidase inhibitors|ascorbate peroxidase inhibitors|L-ascorbate peroxidase inhibitors|L-ascorbate peroxidase inhibitor|L-ascorbic acid peroxidase inhibitor|ascorbate peroxidase inhibitor|ascorbic acid peroxidase inhibitor|EC 1.11.1.11 inhibitor|L-ascorbate:hydrogen-peroxide oxidoreductase inhibitor|EC 1.11.1.11 (L-ascorbate peroxidase) inhibitors|L-ascorbate peroxidase (EC 1.11.1.11) inhibitors|L-ascorbic acid-specific peroxidase inhibitors|L-ascorbic acid-specific peroxidase inhibitor|L-ascorbate:hydrogen-peroxide oxidoreductase inhibitors|L-ascorbate peroxidase (EC 1.11.1.11) inhibitor	http://purl.obolibrary.org/obo/CHEBI_73181	An  EC 1.11.1.* (peroxidases) inhibitor that inhibits the action of L-ascorbate peroxidase (EC 1.11.1.11).	
MONDO:0014471	mitochondrial proton-transporting ATP synthase complex deficiency	biolink:Disease	mondo	DOID:0111143|OMIMPS:604273|ICD10:E88.8|UMLS:C4015062|Orphanet:254913	ordo_disease	isolated ATP synthase deficiency|isolated mitochondrial respiratory chain complex V deficiency|mitochondrial complex V (ATP synthase) deficiency	http://purl.obolibrary.org/obo/MONDO_0014471	A rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS).	UMLS:C4015062|DOID:0111143|ORPHA:254913
MONDO:0014470	autosomal dominant nonsyndromic deafness 65	biolink:Disease	mondo	ICD10:H90.3|OMIM:616044|UMLS:C3892048|DOID:0110586		deafness, autosomal dominant 65|deafness, autosomal dominant 65; DFNA65|autosomal dominant nonsyndromic deafness type 65|deafness, autosomal dominant type 65|TBC1D24 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness caused by mutation in TBC1D24|DFNA65|autosomal dominant deafness 65	http://purl.obolibrary.org/obo/MONDO_0014470	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene.	UMLS:C3892048|DOID:0110586|http://identifiers.org/omim/616044
HGNC:13672	KLF13	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13672		
MONDO:0014475	spinocerebellar ataxia type 40	biolink:Disease	mondo	GARD:0012371|EFO:0009057|DOID:0050986|UMLS:C4518336|OMIM:616053|Orphanet:423275|ICD10:G11.8|UMLS:CN219009|SCTID:734020000|UMLS:CN237494	ordo_disease	SCA40|spinocerebellar ataxia 40|spinocerebellar ataxia 40; SCA40|spinocerebellar ataxia type 40	http://purl.obolibrary.org/obo/MONDO_0014475	Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.	UMLS:C4518336|ORPHA:423275|UMLS:CN237494|UMLS:CN219009|DOID:0050986|http://identifiers.org/omim/616053|SNOMEDCT:734020000
MONDO:0014474	autosomal recessive limb-girdle muscular dystrophy type 2U	biolink:Disease	mondo	Orphanet:352479|DOID:0110295|OMIM:616052|ICD10:G71.0|UMLS:C4015095	ordo_disease	muscular dystrophy limb-girdle type 2U|ISPD autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7|muscular dystrophy, limb-girdle, type 2U|autosomal recessive limb-girdle muscular dystrophy caused by mutation in ISPD|MDDGC7|muscular dystrophy-dystroglycanopathy (limb-girdle) type C7|LGMD2U|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7; MDDGC7|autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency	http://purl.obolibrary.org/obo/MONDO_0014474	Any autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene.	ORPHA:352479|UMLS:C4015095|DOID:0110295|http://identifiers.org/omim/616052
MONDO:0014473	microcephaly 13, primary, autosomal recessive	biolink:Disease	mondo	UMLS:C4015080|OMIM:616051|DOID:0070283		autosomal recessive primary microcephaly caused by mutation in CENPE|microcephaly 13, primary, autosomal recessive|MCPH13|CENPE autosomal recessive primary microcephaly|microcephaly 13, primary, autosomal recessive; MCPH13	http://purl.obolibrary.org/obo/MONDO_0014473	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPE gene.	DOID:0070283|UMLS:C4015080|http://identifiers.org/omim/616051
MONDO:0014472	periodic fever-infantile enterocolitis-autoinflammatory syndrome	biolink:Disease	mondo	Orphanet:436166|ICD10:E85.0|UMLS:C4015067|OMIM:616050	ordo_disease	NLRC4-related MAS|AIFEC|NLRC4-related autoinflammatory syndrome with MAS|AUTOINFLAMMATION with infantile enterocolitis|NLRC4-related autoinflammatory syndrome with macrophage activation syndrome|NLRC4-related infantile enterocolitis-autoinflammatory syndrome|AUTOINFLAMMATION with infantile enterocolitis; AIFEC|NLRC4-related macrophage activation syndrome	http://purl.obolibrary.org/obo/MONDO_0014472		UMLS:C4015067|ORPHA:436166|http://identifiers.org/omim/616050
MONDO:0002479	Sertoli-Leydig cell tumor	biolink:Disease	mondo	UMLS:C0206723|ONCOTREE:SLCT|MESH:D018310|DOID:2997|GARD:0009967			http://purl.obolibrary.org/obo/MONDO_0002479	A sex cord-gonadal stromal tumor consists of leydig cells; sertoli cells; and fibroblasts in varying proportions and degree of differentiation. Most such tumors produce androgens in the Leydig cells, formerly known as androblastoma or arrhenoblastoma. Androblastomas occur in the testis or the ovary causing precocious masculinization in the males, and defeminization, or virilization (virilism) in the females. In some cases, the Sertoli cells produce estrogens.	MESH:D018310|DOID:2997|UMLS:C0206723
MONDO:0002475	lacrimal gland adenocarcinoma	biolink:Disease	mondo	DOID:298|UMLS:C0346341|NCIT:C4541|SCTID:254988008		lacrimal gland adenocarcinoma|adenocarcinoma of the lacrimal gland|adenocarcinoma of lacrimal gland	http://purl.obolibrary.org/obo/MONDO_0002475	A carcinoma that arises from glandular epithelial cells of the lacrimal gland	SNOMEDCT:254988008|NCIT:C4541|UMLS:C0346341|DOID:298
MONDO:0002476	anuria	biolink:Disease	mondo	MESH:D001002|UMLS:C0003460|DOID:2983		suppression of urinary secretion	http://purl.obolibrary.org/obo/MONDO_0002476	Absence of urine output.	DOID:2983|UMLS:C0003460|MESH:D001002|NCIT:C114699
MONDO:0002477	prostate neuroendocrine neoplasm	biolink:Disease	mondo	NCIT:C5545|ONCOTREE:PRNE|UMLS:C1335515|DOID:2992		prostate gland NET|neuroendocrine neoplasm of prostate|neuroendocrine neoplasm of the prostate|prostate gland neuroendocrine tumor|neuroendocrine neoplasm of prostate gland|neuroendocrine tumor of the prostate|prostate neuroendocrine neoplasm|prostate neuroendocrine carcinoma|prostate gland neuroendocrine neoplasm|prostate gland neuroendocrine tumor, well differentiated, low or intermediate grade|prostate gland neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0002477	A neoplasm with neuroendocrine differentiation that arises from the prostate gland. This category includes carcinoid tumors and small cell carcinomas.	NCIT:C5545|DOID:2992|UMLS:C1335515
MONDO:0002478	mixed germ cell-sex cord-stromal tumor	biolink:Disease	mondo	NCIT:C5241|DOID:2996|UMLS:C1321220		mixed germ cell-Sex cord-stromal tumor|mixed germ cell-sex cord-stromal tumor (morphologic abnormality)|mixed germ cell-Sex cord-stromal neoplasm|mixed germ cell-Sex cord neoplasm|mixed germ cell-Sex cord tumor	http://purl.obolibrary.org/obo/MONDO_0002478	A biphasic neoplasm that arises from the ovary or the testis. It is characterized by the presence of neoplastic germ cells and neoplastic sex cord-stromal cells. It includes the gonadoblastoma and mixed germ cell-sex cord stromal tumor, unclassifiable.	NCIT:C5241|DOID:2996|UMLS:C1321220
MONDO:0002471	bursitis	biolink:Disease	mondo	ICD10:M71.9|SCTID:84017003|UMLS:C0006444|MESH:D002062|DOID:2965|ICD9:727.3|COHD:134453|NCIT:C94407		capsulitis|Capsulitides|adhesive capsulitis, shoulder|adhesive Capsulitides, shoulder|shoulder adhesive capsulitis|adhesive capsulitis|Bursitides|shoulder adhesive Capsulitides|adhesive Capsulitides|shoulders, frozen|capsulitis, adhesive|Capsulitides, adhesive|Capsulitides, shoulder adhesive|shoulder, frozen|capsulitis, shoulder adhesive|frozen shoulders|frozen shoulder|synovial bursa inflammation|adhesive capsulitis of the shoulder|inflammation of synovial bursa	http://purl.obolibrary.org/obo/MONDO_0002471	Inflammation or irritation of a synovial bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin.	MESH:D002062|NCIT:C94407|SNOMEDCT:84017003|UMLS:C0006444|DOID:2965
MONDO:0002472	carcinoma ex pleomorphic adenoma	biolink:Disease	mondo	ICDO:8941/3|UMLS:C0344460|NCIT:C4397		carcinoma ex pleomorphic adenoma|carcinoma ex pleomorphic adenoma (morphologic abnormality)|carcinoma in pleomorphic adenoma	http://purl.obolibrary.org/obo/MONDO_0002472	A carcinoma arising in a pre-existing pleomorphic adenoma. It most often occurs in the parotid gland and less often in the submandibular gland and minor salivary gland. Patients usually present with a history of a long-standing mass which recently had undergone rapid growth. The prognosis depends on the invasiveness of the malignant component. Patients with non-invasive or minimally invasive tumors usually have a good prognosis following surgical resection. Invasive tumors are usually aggressive and are associated with recurrences and metastases.	NCIT:C4397|UMLS:C0344460
MONDO:0002473	cystic kidney disease	biolink:Disease	mondo	COHD:193016|ICD10:Q61|DOID:2975|SCTID:722223000|UMLS:C0022679|NCIT:C34750|MESH:D052177		kidney cyst|renal cyst	http://purl.obolibrary.org/obo/MONDO_0002473	A congenital or acquired kidney disorder characterized by the presence of renal cysts.	UMLS:C0022679|DOID:2975|SNOMEDCT:722223000|NCIT:C34750|MESH:D052177
UBERON:0035267	neck of gallbladder	biolink:AnatomicalEntity	mondo			cervix of gallbladder|gallbladder neck	http://purl.obolibrary.org/obo/UBERON_0035267	The narrowest portion of the gallbladder and distal to the cystic duct.	
MONDO:0002474	primary hyperoxaluria	biolink:Disease	mondo	MESH:D006960|ICD9:271.8|DOID:2977|OMIMPS:259900|ICD10:E72.53|SCTID:17901006|NCIT:C123158|Orphanet:416|ICD10:E74.8|MedDRA:10020703|UMLS:C0020501	ordo_disease	hyperoxaluria, primary|primary hyperoxaluria	http://purl.obolibrary.org/obo/MONDO_0002474	A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria.	MESH:D006960|MESH:D006959|DOID:2977|NCIT:C123158|UMLS:C0020501|UMLS:C0020500|ORPHA:416|SNOMEDCT:17901006|MEDDRA:10020703
MONDO:0002470	photosensitive trichothiodystrophy	biolink:Disease	mondo	Orphanet:453|GARD:0002944|DOID:2960|UMLS:CN205101	gard_rare	trichothiodystrophy with congenital ichtyosis|trichothiodystrophy with congenital ichthyosis|IBIDS syndrome|Tay syndrome|Ichtyosis, brittle hair, intellectual impairment, decreased fertility, and short stature|sulfur-deficient brittle hair syndrome|trichothiodystrophy	http://purl.obolibrary.org/obo/MONDO_0002470	A trichothiodystrophy that is photosensitive, and caused by defects in the NER pathway	ORPHA:453|UMLS:CN205101|DOID:2960
MONDO:0014468	congenital myasthenic syndrome 7	biolink:Disease	mondo	OMIM:616040|UMLS:C4015038|DOID:0110659		CMS7|myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy|congenital myasthenic syndrome type 7|SYT2 congenital myasthenic syndrome|myasthenic syndrome, congenital, 7, presynaptic|myasthenic syndrome, congenital, 7, presynaptic; CMS7|congenital myasthenic syndrome 7 presynaptic|congenital myasthenic syndrome caused by mutation in SYT2	http://purl.obolibrary.org/obo/MONDO_0014468	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SYT2 gene.	http://identifiers.org/omim/616040|UMLS:C4015038|DOID:0110659
MONDO:0014467	Charcot-Marie-Tooth disease recessive intermediate d	biolink:Disease	mondo	DOID:0110203|UMLS:C4015029|ICD10:G60.0|OMIM:616039|Orphanet:435998	ordo_disease	Charcot-Marie-Tooth disease, recessive intermediate D|Charcot-Marie-Tooth disease, recessive intermediate D; CMTRID|CMTRID|RI-CMT type D|Charcot-Marie-Tooth disease recessive intermediate type D|autosomal recessive intermediate Charcot-Marie-Tooth disease type D|Charcot-Marie-Tooth disease, recessive Intermediate type D|Charcot-Marie-Tooth disease caused by mutation in COX6A1|COX6A1 Charcot-Marie-Tooth disease	http://purl.obolibrary.org/obo/MONDO_0014467	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the COX6A1 gene.	UMLS:C4015029|DOID:0110203|http://identifiers.org/omim/616039|ORPHA:435998
MONDO:0014466	Neu-Laxova syndrome 2	biolink:Disease	mondo	UMLS:C4015019|OMIM:616038|DOID:0080075		NEU-Laxova syndrome 2; NLS2|Neu-Laxova syndrome 2|PSAT1 Neu-Laxova syndrome|NLS2|Neu-Laxova syndrome type 2|Neu-Laxova syndrome caused by mutation in PSAT1	http://purl.obolibrary.org/obo/MONDO_0014466	Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PSAT1 gene.	DOID:0080075|UMLS:C4015019|http://identifiers.org/omim/616038
MONDO:0014465	primary ciliary dyskinesia 30	biolink:Disease	mondo	ICD10:Q34.8|UMLS:C4015016|OMIM:616037|DOID:0110624		ciliary dyskinesia, primary, type 30|primary ciliary dyskinesia type 30|ciliary dyskinesia, primary, 30; CILD30|primary ciliary dyskinesia caused by mutation in CCDC151|ciliary dyskinesia, primary, 30|primary ciliary dyskinesia 30 without situs inversus|CCDC151 primary ciliary dyskinesia|ciliary dyskinesia, primary, 30, with or without situs inversus|CILD30	http://purl.obolibrary.org/obo/MONDO_0014465	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC151 gene.	UMLS:C4015016|http://identifiers.org/omim/616037|DOID:0110624
MONDO:0014469	autosomal recessive nonsyndromic deafness 103	biolink:Disease	mondo	UMLS:C4015050|DOID:0110464|ICD10:H90.3|OMIM:616042		deafness, autosomal recessive type 103|CLIC5 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 103; DFNB103|autosomal recessive nonsyndromic deafness caused by mutation in CLIC5|autosomal recessive deafness 103|DFNB103|autosomal recessive nonsyndromic deafness type 103|deafness, autosomal recessive 103	http://purl.obolibrary.org/obo/MONDO_0014469	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLIC5 gene.	http://identifiers.org/omim/616042|UMLS:C4015050|DOID:0110464
MONDO:0014460	nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome	biolink:Disease	mondo	Orphanet:423454|UMLS:C4014987|OMIM:616029|ICD10:Q82.8	ordo_disease	short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome|ectodermal dysplasia/short stature syndrome|ectodermal dysplasia/short stature syndrome; ECTDS|ectodermal dysplasia-short stature syndrome|ECTDS	http://purl.obolibrary.org/obo/MONDO_0014460	Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed.	ORPHA:423454|http://identifiers.org/omim/616029|UMLS:C4014987
MONDO:0014464	progressive encephalopathy with leukodystrophy due to DECR deficiency	biolink:Disease	mondo	ICD10:G31.8|UMLS:C1857252|GARD:0010327|MESH:C565624|OMIM:616034|Orphanet:431361	ordo_disease	2,4-dienoyl-CoA reductase deficiency|2,4-alpha dienoyl-CoA reductase deficiency|DECR deficiency with hyperlysinemia|DECRD|dienoyl-CoA reductase deficiency|2,4-dienoyl-CoA reductase deficiency; DECRD	http://purl.obolibrary.org/obo/MONDO_0014464	Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop.	ORPHA:431361|UMLS:C1857252|MESH:C565624|http://identifiers.org/omim/616034
MONDO:0014463	obsolete microcephaly, short stature, and impaired glucose metabolism	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0014463		
MONDO:0014462	focal segmental glomerulosclerosis 8	biolink:Disease	mondo	DOID:0111133|OMIM:616032|UMLS:C4014993|ICD10:N04.1		focal segmental glomerulosclerosis 8; FSGS8|glomerulosclerosis, focal segmental, 8|focal segmental glomerulosclerosis 8|FSGS8|focal segmental glomerulosclerosis type 8|focal segmental glomerulosclerosis caused by mutation in ANLN|ANLN focal segmental glomerulosclerosis	http://purl.obolibrary.org/obo/MONDO_0014462	Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ANLN gene.	DOID:0111133|http://identifiers.org/omim/616032|UMLS:C4014993
MONDO:0014461	hypogonadotropic hypogonadism 22 with or without anosmia	biolink:Disease	mondo	DOID:0090081|UMLS:C4014988|ICD10:E23.0|OMIM:616030		hypogonadotropic hypogonadism 22 with or without anosmia; HH22|hypogonadotropic hypogonadism 22 with or without anosmia|FEZF1 hypogonadotropic hypogonadism|HH22|hypogonadotropic hypogonadism caused by mutation in FEZF1	http://purl.obolibrary.org/obo/MONDO_0014461	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FEZF1 gene.	DOID:0090081|UMLS:C4014988|http://identifiers.org/omim/616030
MONDO:0002486	lobular neoplasia	biolink:Disease	mondo	UMLS:C0861352|NCIT:C27939|DOID:3010		lobular intraepithelial neoplasia|lobular carcinoma in situ|lobular neoplasia|LN|LIN	http://purl.obolibrary.org/obo/MONDO_0002486	A spectrum of non-invasive neoplastic lesions that arise from the terminal ductal lobular units of the breast. There is atypical small epithelial cell proliferation. Pagetoid involvement of the terminal ducts may or may not be present. In the minority of cases, there is a risk for subsequent development of invasive ductal or invasive lobular carcinoma.	NCIT:C27939|UMLS:C0861352|DOID:3010
MONDO:0002487	breast granular cell tumor	biolink:Disease	mondo	UMLS:C1511312|NCIT:C40400|DOID:3011		breast granular cell tumor|granular cell tumor of breast	http://purl.obolibrary.org/obo/MONDO_0002487	A usually benign neoplasm that arises from the breast. It presents as a single, firm, and painless mass. It is characterized by the presence of neoplastic cells with eosinophilic granular cytoplasm.	NCIT:C40400|DOID:3011|UMLS:C1511312
MONDO:0002488	intraductal breast neoplasm	biolink:Disease	mondo	UMLS:C0948967|NCIT:C36083|DOID:3013		intraductal breast neoplasm	http://purl.obolibrary.org/obo/MONDO_0002488	A benign or malignant epithelial neoplasm that arises anywhere in the ductal system of the breast. This category includes intraductal papilloma, intraductal papillary carcinoma, ductal hyperplasia with or without atypia, and ductal carcinoma in situ.	NCIT:C36083|UMLS:C0948967|DOID:3013
MONDO:0002489	malignant breast phyllodes tumor	biolink:Disease	mondo	ONCOTREE:MPT|NCIT:C4504|EFO:0008545|DOID:3016|SCTID:254844000		malignant cystosarcoma phyllodes of the breast|phyllodes breast neoplasm|malignant mammary phyllodes tumor|malignant breast phyllodes neoplasm|malignant cystosarcoma phyllodes|malignant phyllodes tumor|breast phyllodes tumor, malignant|breast malignant phyllodes tumor|malignant breast phyllodes tumor|malignant phyllodes neoplasm|phyllodes breast tumor|malignant mammary phyllodes neoplasm|malignant phyllodes tumor (morphologic abnormality)|malignant phyllodes breast neoplasm|malignant phyllodes neoplasm of breast|phyllodes tumor, malignant (morphologic abnormality)|malignant phyllodes neoplasm of the breast|phyllodes tumor, malignant|malignant cystosarcoma phyllodes (morphologic abnormality)|malignant phyllodes tumor of breast|malignant cystosarcoma phyllodes of breast|malignant phyllodes tumor of the breast	http://purl.obolibrary.org/obo/MONDO_0002489	A phyllodes tumor of the breast characterized by infiltrative margins and a sarcomatous stromal component. The sarcomatous stroma usually displays features of fibrosarcoma. Liposarcomatous, osteosarcomatous, or rhabdomyosarcomatous elements may also be present.	NCIT:C4504|DOID:3016|SNOMEDCT:254844000
MONDO:0002482	nipple neoplasm	biolink:Disease	mondo	NCIT:C5212|DOID:3003|UMLS:C1112166		nipple tumor|tumor of the nipple|nipple neoplasm|neoplasm of the nipple|nipple neoplasm (disease)|tumor of nipple|neoplasm of nipple	http://purl.obolibrary.org/obo/MONDO_0002482	A benign or malignant neoplasm that arises in the area of the nipple.	DOID:3003|NCIT:C5212|UMLS:C1112166
MONDO:0002483	breast myoepithelial tumor	biolink:Disease	mondo	DOID:3004|NCIT:C40389|UMLS:C1511319		breast myoepithelial tumor|breast myoepithelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0002483	A benign or malignant tumor that arises from the breast and originates from or is composed of myoepithelial cells. Representative examples include adenomyoepithelioma, myoepitheliosis, and malignant myoepithelioma.	NCIT:C40389|DOID:3004|UMLS:C1511319
MONDO:0002484	obsolete breast ductal carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002484		
MONDO:0002485	breast neuroendocrine neoplasm	biolink:Disease	mondo	DOID:3009|NCIT:C5169|UMLS:C1332635		breast neuroendocrine tumor, well differentiated, low or intermediate grade|breast neuroendocrine tumor|breast endocrine neoplasm|neuroendocrine neoplasm of the breast|breast neuroendocrine neoplasm|neuroendocrine tumor of the breast|breast neuroendocrine tumor|breast NET|neuroendocrine neoplasm of breast	http://purl.obolibrary.org/obo/MONDO_0002485	A neoplasm that arises from the breast and is composed of cells of neuroendocrine origin. Most cases are neuroendocrine carcinomas. Primary carcinoid tumors of the breast are very rare.	UMLS:C1332635|DOID:3009|NCIT:C5169
MONDO:0002480	endometrioid tumor	biolink:Disease	mondo	UMLS:C0474809|NCIT:C7113|EFO:0009118|DOID:3001		endometrioid neoplasm|female reproductive endometrioid neoplasm|endometrioid neoplasm of female reproductive system|female reproductive endometrioid cancer|endometrioid neoplasm of the female reproductive system|endometrioid tumor of female reproductive system|endometrioid tumor (morphologic abnormality)|endometrioid tumor of the female reproductive system|endometrioid tumor|female reproductive endometrioid tumor	http://purl.obolibrary.org/obo/MONDO_0002480	A benign, borderline, or malignant epithelial tumor of the female reproductive system characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells.	DOID:3001|NCIT:C7113|UMLS:C0474809
MONDO:0002481	ovarian neuroendocrine neoplasm	biolink:Disease	mondo	NCIT:C5237|UMLS:C1335172|DOID:3002		ovary NET|ovary neuroendocrine tumor, well differentiated, low or intermediate grade|ovary neuroendocrine tumor|neuroendocrine neoplasm of ovary|ovary neuroendocrine tumor|neuroendocrine neoplasm of the ovary|ovarian neuroendocrine neoplasm|neuroendocrine tumor of ovary|ovary neuroendocrine neoplasm	http://purl.obolibrary.org/obo/MONDO_0002481	An epithelial neoplasm with neuroendocrine differentiation that arises from the ovary. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma.	DOID:3002|NCIT:C5237|UMLS:C1335172
MONDO:0014457	hyperphosphatasia with intellectual disability syndrome 5	biolink:Disease	mondo	UMLS:C4014958|OMIM:616025		hyperphosphatasia with mental retardation syndrome 5|hyperphosphatasia with intellectual disability syndrome 5|hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGW|glycosylphosphatidylinositol biosynthesis defect 11|glycosylphosphatidylinositol biosynthesis defect 11; GPIBD11|PIGW hyperphosphatasia-intellectual disability syndrome|hyperphosphatasia with intellectual disability syndrome type 5|GPIBD11|hyperphosphatasia with intellectual disability syndrome 5; HPMRS5|hyperphosphatasia with mental retardation syndrome type 5|HPMRS5|hyperphosphatasia with mental retardation syndrome 5; HPMRS5	http://purl.obolibrary.org/obo/MONDO_0014457	Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGW gene.	UMLS:C4014958|http://identifiers.org/omim/616025
MONDO:0014456	autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	biolink:Disease	mondo	OMIM:616022|Orphanet:423384|ICD10:D70|UMLS:C4014954	ordo_disease	SCN6|neutropenia, severe congenital, 6, autosomal recessive; SCN6|neutropenia, severe congenital, 6, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0014456		UMLS:C4014954|http://identifiers.org/omim/616022|ORPHA:423384
MONDO:0014455	cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	biolink:Disease	mondo	ICD10:Q87.8|UMLS:C4014942|Orphanet:436174|OMIM:616007	ordo_disease	cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia; CAGSSS|cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia|CAGSSS	http://purl.obolibrary.org/obo/MONDO_0014455		UMLS:C4014942|http://identifiers.org/omim/616007|ORPHA:436174
MONDO:0014454	Hennekam lymphangiectasia-lymphedema syndrome 2	biolink:Disease	mondo	OMIM:616006|UMLS:C4014939		FAT4 Hennekam syndrome|Hennekam lymphangiectasia-lymphedema syndrome 2|HKLLS2|Hennekam lymphangiectasia-lymphedema syndrome type 2|Hennekam syndrome caused by mutation in FAT4|Hennekam lymphangiectasia-lymphedema syndrome 2; HKLLS2	http://purl.obolibrary.org/obo/MONDO_0014454	Any Hennekam syndrome in which the cause of the disease is a mutation in the FAT4 gene.	http://identifiers.org/omim/616006|UMLS:C4014939
MONDO:0014459	Adams-Oliver syndrome 5	biolink:Disease	mondo	OMIM:616028|UMLS:C4014970		NOTCH1 Adams-Oliver syndrome|Notch1 Adams-Oliver syndrome|AOS5|Adams-Oliver syndrome 5; AOS5|Adams-Oliver syndrome caused by mutation in Notch1|Adams-Oliver syndrome caused by mutation in NOTCH1|Adams-Oliver syndrome type 5|Adams-Oliver syndrome 5	http://purl.obolibrary.org/obo/MONDO_0014459	Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the NOTCH1 gene.	http://identifiers.org/omim/616028|UMLS:C4014970
MONDO:0014458	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	biolink:Disease	mondo	OMIM:616026|UMLS:C4014962		Fanconi syndrome caused by mutation in HNF4A|Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young; FRTS4|FRTS4|HNF4A Fanconi syndrome|FRTS4 with MODY|Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	http://purl.obolibrary.org/obo/MONDO_0014458	Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene.	UMLS:C4014962|http://identifiers.org/omim/616026
MONDO:0014453	immunodeficiency 36	biolink:Disease	mondo	UMLS:C4014934|OMIM:616005		immunodeficiency 36|IMD36|immunodeficiency type 36|immunodeficiency 36; IMD36	http://purl.obolibrary.org/obo/MONDO_0014453		UMLS:C4014934|http://identifiers.org/omim/616005
MONDO:0014452	familial dysfibrinogenemia	biolink:Disease	mondo	Orphanet:98881|ICD9:286.3|ICD10:D68.2|UMLS:CN207171|OMIM:616004|UMLS:C1260903|SCTID:111589005|GARD:0002004|NCIT:C131659	gard_rare|ordo_clinical_subtype	congenital dysfibrinogenemia|dysfibrinogenemia|familial dysfibrinogenemia|dysfibrinogenemia, familial|dysfibrinogenemia, congenital|hypodysfibrinogenemia, congenital	http://purl.obolibrary.org/obo/MONDO_0014452	Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen.	UMLS:C1260903|SNOMEDCT:111589005|UMLS:CN207171|ORPHA:98881|NCIT:C131659|http://identifiers.org/omim/616004
MONDO:0014451	focal segmental glomerulosclerosis 7	biolink:Disease	mondo	UMLS:C4014925|DOID:0111132|OMIM:616002|ICD10:N04.1		focal segmental glomerulosclerosis caused by mutation in PAX2|FSGS7|focal segmental glomerulosclerosis 7; FSGS7|glomerulosclerosis, focal segmental, 7|focal segmental glomerulosclerosis 7|focal segmental glomerulosclerosis type 7|PAX2 focal segmental glomerulosclerosis	http://purl.obolibrary.org/obo/MONDO_0014451	Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the PAX2 gene.	DOID:0111132|UMLS:C4014925|http://identifiers.org/omim/616002
MONDO:0014450	breasts and/or nipples, aplasia or hypoplasia of, 2	biolink:Disease	mondo	OMIM:616001|UMLS:C4014918		PTPRF isolated congenital breast hypoplasia/aplasia|breasts and/or nipples, aplasia or hypoplasia of, 2|isolated congenital breast hypoplasia/aplasia caused by mutation in PTPRF|breasts and/or nipples, aplasia or hypoplasia of, 2; BNAH2|BNAH2|breasts and/or nipples, aplasia or hypoplasia of, type 2	http://purl.obolibrary.org/obo/MONDO_0014450	Any isolated congenital breast hypoplasia/aplasia in which the cause of the disease is a mutation in the PTPRF gene.	http://identifiers.org/omim/616001|UMLS:C4014918
MONDO:0004911	cardiovascular syphilis	biolink:Disease	mondo	ICD9:093.89|DOID:9880|ICD9:093.8|SCTID:83883001|ICD9:093.9|UMLS:C0039130			http://purl.obolibrary.org/obo/MONDO_0004911	A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries.	DOID:9880|SNOMEDCT:83883001|UMLS:C0039130
MONDO:0004910	mitral valve prolapse (disease)	biolink:Disease	mondo	OMIMPS:157700|COHD:4252872|NCIT:C50655|DOID:988|HP:0001634|SCTID:409712001		mitral leaflet syndrome|mitral valve prolapse syndrome|mitral valve prolapse|myxomatous mitral valve prolapse|mitral valve prolapse, myxomatous|valve, prolapse Of mitral|systolic click-murmur syndrome|floppy mitral valve|barlow's syndrome|prolapse, mitral valve	http://purl.obolibrary.org/obo/MONDO_0004910	A fairly common and often benign valvular heart disorder characterized by redundancy or hooding of mitral valve leaflets so that they prolapse into the left atrium, often causing mitral regurgitation. It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia.	DOID:988|NCIT:C50655|SNOMEDCT:409712001
MONDO:0004913	alternating esotropia	biolink:Disease	mondo	SCTID:39837002|UMLS:C0152205|COHD:381031|ICD10:H50.05|ICD9:378.05|DOID:9888			http://purl.obolibrary.org/obo/MONDO_0004913		UMLS:C0152205|DOID:9888|SNOMEDCT:39837002
MONDO:0004912	obsolete muscular dystrophy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004912		
HGNC:25726	LAS1L	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25726		
CHEBI:24129	furans	biolink:ChemicalSubstance	mondo			oxacyclopenta-2,4-dienes	http://purl.obolibrary.org/obo/CHEBI_24129	Compounds containing at least one furan ring.	
UBERON:0001549	dorsal metatarsal vein	biolink:AnatomicalEntity	mondo			venae metatarsales dorsales|metatarsal vein	http://purl.obolibrary.org/obo/UBERON_0001549	The dorsal metatarsal veins are veins which drain the metatarsus of the foot. [WP,unvetted].	
CL:1001428	bladder urothelial cell	biolink:Cell	mondo	KUPO:0001121			http://purl.obolibrary.org/obo/CL_1001428		
MONDO:0016900	partial deletion of the long arm of chromosome 1	biolink:Disease	mondo	ICD10:Q93.5|Orphanet:262001	ordo_group_of_disorders	partial monosomy of the long arm of chromosome 1|partial monosomy of chromosome 1q|partial deletion of chromosome 1q|partial deletion of the long arm of chromosome type 1	http://purl.obolibrary.org/obo/MONDO_0016900		ORPHA:262001
MONDO:0016901	partial deletion of the long arm of chromosome 2	biolink:Disease	mondo	UMLS:C0795804|ICD10:Q93.5|GARD:0003744|Orphanet:262010|MESH:C538315	gard_rare|ordo_group_of_disorders	deletion 2q|2q deletion|2q monosomy|partial monosomy of chromosome 2q|partial deletion of chromosome 2q|partial deletion of the long arm of chromosome type 2|chromosome 2q deletion|partial monosomy 2q|partial monosomy of the long arm of chromosome 2|monosomy 2q	http://purl.obolibrary.org/obo/MONDO_0016901	Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 2q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.	ORPHA:262010|MESH:C538315|UMLS:C0795804
MONDO:0016902	partial deletion of the long arm of chromosome 3	biolink:Disease	mondo	Orphanet:262019|ICD10:Q93.5	ordo_group_of_disorders	partial monosomy of chromosome 3q|partial deletion of the long arm of chromosome type 3|partial deletion of chromosome 3q|partial monosomy of the long arm of chromosome 3	http://purl.obolibrary.org/obo/MONDO_0016902		ORPHA:262019
MONDO:0016903	partial deletion of the long arm of chromosome 4	biolink:Disease	mondo	Orphanet:262029|MESH:C537639|ICD10:Q93.5|GARD:0001340	gard_rare|ordo_group_of_disorders	partial deletion of the long arm of chromosome type 4|partial monosomy of chromosome 4q|chromosome 4q deletion|partial deletion of chromosome 4q|partial monosomy of the long arm of chromosome 4|partial monosomy 4q|monosomy 4q|4q deletion|deletion 4q|4q monosomy	http://purl.obolibrary.org/obo/MONDO_0016903	Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Common features shared by many people with this deletion includedistinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature. Most cases are not inherited, although affectedpeople can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.	ORPHA:262029|MESH:C537639
UBERON:8300002	left forelimb	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_8300002	A forelimb that is on the left side of a pectoral complex.	
UBERON:0013525	stomach lumen	biolink:AnatomicalEntity	mondo			gastric cavity|cavity of stomach	http://purl.obolibrary.org/obo/UBERON_0013525	The anatomical space that is enclosed by a stomach.	
UBERON:8300001	right forelimb	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_8300001	A forelimb that is on the right side of a pectoral complex.	
UBERON:0013526	otocyst lumen	biolink:AnatomicalEntity	mondo			lumen of otocyst	http://purl.obolibrary.org/obo/UBERON_0013526	A anatomical cavity that is part of a ear vesicle.	
HGNC:13743	ALOXE3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13743		
UBERON:8300004	left hindlimb	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_8300004	A hindlimb that is on the left side of a pelvic complex.	
UBERON:8300003	right hindlimb	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_8300003	A hindlimb that is on the right side of a pelvic complex.	
UBERON:0001554	skin of hip	biolink:AnatomicalEntity	mondo			hip zone of skin|zone of skin of hip region|zone of skin of regio coxae|hip skin|hip region zone of skin|regio coxae zone of skin|zone of skin of hip	http://purl.obolibrary.org/obo/UBERON_0001554	A zone of skin that is part of a hip region.	
MONDO:0004908	obsolete galactosemia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004908		
MONDO:0004907	alopecia	biolink:Disease	mondo	NCIT:C50575|Orphanet:79364|COHD:133280|SCTID:56317004|UMLS:C0002170|ICD10:L65.9|ICD9:704.09|ICD9:704.0|ICD9:704.00|MESH:D000505|DOID:987	ordo_group_of_disorders	alopecia|alopecia areata|hair loss|loss Of hair	http://purl.obolibrary.org/obo/MONDO_0004907	Hair loss usually from the scalp. It may result in bald spots or spread to the entire scalp or the entire epidermis. It may be androgenetic or caused by chemotherapeutic agents, compulsive hair pulling, autoimmune disorders or congenital conditions.	ORPHA:79364|SNOMEDCT:56317004|UMLS:C0002170|MESH:D000505|NCIT:C50575|DOID:987
UBERON:0001556	lower urinary tract	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0001556	Subdivision of urinary system which consists of the urinary bladder and the urethra.	
MONDO:0004909	urethral gland abscess	biolink:Disease	mondo	DOID:9877|ICD9:597.0|SCTID:444820005|ICD10:N34.0			http://purl.obolibrary.org/obo/MONDO_0004909		DOID:9877|SNOMEDCT:444820005
UBERON:0001555	digestive tract	biolink:AnatomicalEntity	mondo			digestive tube|alimentary canal|gut|digestive canal|gut tube|alimentary tract|enteric tract	http://purl.obolibrary.org/obo/UBERON_0001555	A tube extending from the mouth to the anus.	
MONDO:0004904	toxic maculopathy	biolink:Disease	mondo	ICD9:362.55|SCTID:44115007|ICD10:H35.38|UMLS:C0271086|COHD:377848|DOID:9867		toxic maculopathy of retina	http://purl.obolibrary.org/obo/MONDO_0004904		SNOMEDCT:44115007|DOID:9867|UMLS:C0271086
MONDO:0004903	deep keratitis	biolink:Disease	mondo	ICD9:370.59|UMLS:C2960633|ICD9:370.5|SCTID:445741003|DOID:9858|ICD10:H16.3			http://purl.obolibrary.org/obo/MONDO_0004903		UMLS:C2960633|DOID:9858|SNOMEDCT:445741003
MONDO:0004906	obsolete hereditary fructose intolerance syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004906		
MONDO:0004905	intestinal disaccharidase deficiency	biolink:Disease	mondo	NCIT:C34731|EFO:1000060|SCTID:22169002|COHD:192286|ICD9:271.3|DOID:9868		intestinal disaccharidase deficiency and disaccharide malabsorption|intestinal disaccharide deficiency and disaccharide malabsorption	http://purl.obolibrary.org/obo/MONDO_0004905	Inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age.	DOID:9868|SNOMEDCT:22169002|NCIT:C34731
MONDO:0004922	developmental coordination disorder	biolink:Disease	mondo	ICD9:315.4|COHD:440388|DOID:9923|SCTID:27544004|NCIT:C92561|ICD10:F82|UMLS:C0520947|MESH:D019957		development coordination disorder|clumsy child syndrome|developmental dyspraxia	http://purl.obolibrary.org/obo/MONDO_0004922	A disorder characterized by an impairment in the development of an individual's motor coordination skills; this impairment in motor development is not due to a medical condition.	DOID:9923|UMLS:C0520947|SNOMEDCT:27544004|NCIT:C92561|MESH:D019957
MONDO:0004921	obsolete Omsk hemorrhagic fever	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004921		
MONDO:0004924	chronic canaliculitis	biolink:Disease	mondo	UMLS:C0155240|ICD9:375.41|SCTID:26479009|DOID:9936|ICD10:H04.42		chronic actinomycosis|actinomycosis, chronic	http://purl.obolibrary.org/obo/MONDO_0004924	Chronic form of actinomycosis.	DOID:9936|SNOMEDCT:26479009|UMLS:C0155240
HP:0008372	Abnormality of vitamin A metabolism	biolink:PhenotypicFeature	mondo	UMLS:C4024686			http://purl.obolibrary.org/obo/HP_0008372		
MONDO:0004923	chronic inflammation of lacrimal passage	biolink:Disease	mondo	ICD9:375.4|SCTID:267653001|DOID:9935|UMLS:C0155239|ICD10:H04.4			http://purl.obolibrary.org/obo/MONDO_0004923		DOID:9935|UMLS:C0155239|SNOMEDCT:267653001
UBERON:0001536	left common carotid artery plus branches	biolink:AnatomicalEntity	mondo			trunk of left common carotid tree|left common carotid artery|left common carotid artery	http://purl.obolibrary.org/obo/UBERON_0001536	The leftmost of the two common carotid arteries, originating from the aortic arch in the thorax.	
UBERON:0001535	vertebral artery	biolink:AnatomicalEntity	mondo			vertebral arteries|arteria vertebralis	http://purl.obolibrary.org/obo/UBERON_0001535	the first branch of the left and right subclavian arteries that merge to form the single midline basilar artery; branches of the vertebral arteries supply the musculature of the neck	
HGNC:25737	NHEJ1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25737		
MONDO:0004920	hydrocele	biolink:Disease	mondo	COHD:76737|ICD9:603.8|SCTID:55434001|DOID:9912|ICD9:603.9			http://purl.obolibrary.org/obo/MONDO_0004920		DOID:9912|SNOMEDCT:55434001
UBERON:0013522	subdivision of tube	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0013522		
UBERON:8300000	skin of scalp	biolink:AnatomicalEntity	mondo			zone of skin of adult scalp|adult scalp zone of skin|scalp zone of skin|zone of skin of scalp|scalp skin	http://purl.obolibrary.org/obo/UBERON_8300000	A zone of skin that is part of a scalp.	
UBERON:0013514	space surrounding organism	biolink:AnatomicalEntity	mondo			external to organism|outside of body	http://purl.obolibrary.org/obo/UBERON_0013514	The space that surrounds an organism.	
UBERON:0013515	subdivision of oviduct	biolink:AnatomicalEntity	mondo			subdivision of uterine tube|subdivision of fallopian tube|zone of uterine tube|subdivision of oviduct|uterine tube zone	http://purl.obolibrary.org/obo/UBERON_0013515	A section through the tube or network of tubes that connects the ovaries to the outside of the body.	
MONDO:0004919	infected hydrocele	biolink:Disease	mondo	ICD10:N43.1|SCTID:11666007|UMLS:C0156300|COHD:74998|ICD9:603.1|DOID:9911			http://purl.obolibrary.org/obo/MONDO_0004919		DOID:9911|SNOMEDCT:11666007|UMLS:C0156300
UBERON:0001543	popliteal lymph node	biolink:AnatomicalEntity	mondo			popliteal glands|popliteal lymph node|popliteal lymph glands	http://purl.obolibrary.org/obo/UBERON_0001543	the lymph nodes which drain the legs; contained in the popliteal fossa	
UBERON:0001542	inguinal lymph node	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0001542	the lymph nodes located in the groin area	
MONDO:0004918	central corneal ulcer	biolink:Disease	mondo	SCTID:7426009|COHD:380402|UMLS:C0155069|ICD9:370.03|ICD10:H16.01|DOID:9910			http://purl.obolibrary.org/obo/MONDO_0004918		DOID:9910|SNOMEDCT:7426009|UMLS:C0155069
MONDO:0004915		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004915		
MONDO:0004914	median arcuate ligament syndrome	biolink:Disease	mondo	SCTID:9250002|DOID:9892|GARD:0012308|ICD10:I77.4|COHD:194393|ICD9:447.4		median arcuate ligament syndromic disease|Harjola-Marable syndrome|syndromic disease of median arcuate ligament|Marable's syndrome|celiac access syndrome|celiac artery compression syndrome	http://purl.obolibrary.org/obo/MONDO_0004914	A syndromic disease that involves the median arcuate ligament.	DOID:9892|SNOMEDCT:9250002
MONDO:0004917	internal hordeolum	biolink:Disease	mondo	COHD:377560|SCTID:414521009|DOID:9908|ICD9:373.12|ICD10:H00.02|UMLS:C0085690		tarsal gland hordeolum|infection of meibomian gland|infected cyst of meibomian gland|infected meibomian cyst|meibomian adenitis|hordeolum of tarsal gland|hordeolum internum|infected chalazion|internal hordeolum	http://purl.obolibrary.org/obo/MONDO_0004917	A hordeolum that results from infection of a meibomian gland.	DOID:9908|UMLS:C0085690|SNOMEDCT:414521009
MONDO:0004916		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004916		
UBERON:0001528	radio-ulnar joint	biolink:AnatomicalEntity	mondo			articulation of the radus and ulna|radioulnar joint|radioulnar articulation	http://purl.obolibrary.org/obo/UBERON_0001528	A joint that connects the radius and the ulna. Examples: proximal and distal radio-ulnar joints	
HGNC:25705	KCTD17	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25705		
CHEBI:26764	steroid hormone	biolink:ChemicalSubstance	mondo			Steroidhormon|hormones steroides|Steroidhormone|hormone steroide|steroid hormones|hormonas esteroideas|hormona esteroide	http://purl.obolibrary.org/obo/CHEBI_26764	Any steroid that acts as hormone.	
CHEBI:51721	alpha,beta-unsaturated ketone	biolink:ChemicalSubstance	mondo			alpha,beta-unsaturated ketones	http://purl.obolibrary.org/obo/CHEBI_51721	A ketone of general formula R(1)R(2)C=CR(3)-C(=O)R(4) (R(4) =/= H) or R(1)C#C-C(=O)R(2) (R(2) =/= H) in which the ketonic C=O function is conjugated to an unsaturated C-C bond at the alpha,beta position.	
CHEBI:26766	steroid lactone	biolink:ChemicalSubstance	mondo			steroid lactones	http://purl.obolibrary.org/obo/CHEBI_26766		
HP:0011996	Elevated coagulation factor V activity	biolink:PhenotypicFeature	mondo	UMLS:C4021106		Plasma factor V elevated|Elevated factor V activity	http://purl.obolibrary.org/obo/HP_0011996	Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex.	
UBERON:0013510	lumbar vertebra pre-cartilage condensation	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0013510	A lumbar vertebra endochondral element that is composed primarily of a pre-cartilage condensation.	
NCBITaxon:83136	Trombidiformes	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_83136		
NCBITaxon:83137	Sarcoptiformes	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_83137		
NCBITaxon:83138	Anystina	organism taxon	mondo	GC_ID:1		Anystides	http://purl.obolibrary.org/obo/NCBITaxon_83138		
UBERON:0013507	thoracic vertebra cartilage element	biolink:AnatomicalEntity	mondo			thoracic vertebral cartilage condensation group	http://purl.obolibrary.org/obo/UBERON_0013507	A thoracic vertebra endochondral element that is composed primarily of cartilage tissue.	
HGNC:13723	CTCF	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13723		
UBERON:0013508	thoracic vertebra pre-cartilage condensation	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0013508	A thoracic vertebra endochondral element that is composed primarily of a pre-cartilage condensation.	
UBERON:0013509	lumbar vertebra cartilage element	biolink:AnatomicalEntity	mondo			lumbar vertebral cartilage condensation group	http://purl.obolibrary.org/obo/UBERON_0013509	A lumbar vertebra endochondral element that is composed primarily of cartilage tissue.	
UBERON:0013503	caudal vertebra cartilage element	biolink:AnatomicalEntity	mondo			tail vertebral cartilage condensation|coccygeal vertebra cartilage element|coccygeal vertebral cartilage condensation group	http://purl.obolibrary.org/obo/UBERON_0013503	A caudal vertebra endochondral element that is composed primarily of cartilage tissue.	
UBERON:0013504	caudal vertebra pre-cartilage condensation	biolink:AnatomicalEntity	mondo			coccygeal vertebra pre-cartilage condensation|tail vertebral pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0013504	A caudal vertebra endochondral element that is composed primarily of a pre-cartilage condensation.	
UBERON:0013505	cervical vertebra cartilage element	biolink:AnatomicalEntity	mondo			cervical vertebral cartilage condensation group	http://purl.obolibrary.org/obo/UBERON_0013505	A cervical vertebra endochondral element that is composed primarily of cartilage tissue.	
UBERON:0013506	cervical vertebra pre-cartilage condensation	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0013506	A cervical vertebra endochondral element that is composed primarily of a pre-cartilage condensation.	
UBERON:0001532	internal carotid artery	biolink:AnatomicalEntity	mondo			arteria carotis interna|ICA|internal carotid|cranial carotid artery	http://purl.obolibrary.org/obo/UBERON_0001532	A terminal branch of the left or right common carotid artery which supplies oxygenated blood to the brain and eyes[MP]	
UBERON:0001531	right common carotid artery plus branches	biolink:AnatomicalEntity	mondo			right common carotid artery|right common carotid artery|trunk of right common carotid tree	http://purl.obolibrary.org/obo/UBERON_0001531	The rightmost of the two common carotid arteries, originating from in the neck from the brachiocephalic trunk.	
UBERON:0001534	right subclavian artery	biolink:AnatomicalEntity	mondo			arteria subclavia dextra	http://purl.obolibrary.org/obo/UBERON_0001534	The subclavian artery that supplies the right pectoral appendage	
UBERON:0001533	subclavian artery	biolink:AnatomicalEntity	mondo			pectoral artery|arterial tree of upper limb|subclavian arterial tree|arteria subclavia|PA|arteria subclavia	http://purl.obolibrary.org/obo/UBERON_0001533	One of two laterally paired arteries that supplies the pectoral appendages, usually branching from the dorsal aorta	
UBERON:0001530	common carotid artery plus branches	biolink:AnatomicalEntity	mondo			trunk of common carotid tree|carotid artery system|carotid artery|common carotid artery|a. carotis communis	http://purl.obolibrary.org/obo/UBERON_0001530	A bilaterally paired branched artery that originates from the aortic arches and divides into and includes as parts the internal and external carotid arteries[cjm].	
MONDO:0004900	peripheral vertigo	biolink:Disease	mondo	SCTID:50438001|UMLS:C0155501|ICD9:386.10|ICD9:386.1|COHD:78162|ICD10:H81.399|ICD10:H81.3|DOID:9847|ICD10:H81.39|ICD9:386.19			http://purl.obolibrary.org/obo/MONDO_0004900		DOID:9847|SNOMEDCT:50438001|UMLS:C0155501
UBERON:0001518	skin of wrist	biolink:AnatomicalEntity	mondo			carpal region zone of skin|zone of skin of wrist|wrist zone of skin|zone of skin of carpal region|wrist skin	http://purl.obolibrary.org/obo/UBERON_0001518	A zone of skin that is part of a wrist [Automatically generated definition].	
HGNC:25712	PGAP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25712		
UBERON:0001517	skin of elbow	biolink:AnatomicalEntity	mondo			elbow skin|zone of skin of cubital region|zone of skin of elbow|cubital region zone of skin|elbow zone of skin	http://purl.obolibrary.org/obo/UBERON_0001517	A zone of skin that is part of a elbow [Automatically generated definition].	
MONDO:0004902	interstitial keratitis	biolink:Disease	mondo	UMLS:C0155088|ICD9:370.50|COHD:439808|DOID:9857|ICD10:H16.30			http://purl.obolibrary.org/obo/MONDO_0004902		DOID:9857|UMLS:C0155088
MONDO:0004901	lingual-facial-buccal dyskinesia	biolink:Disease	mondo	UMLS:C0152115|SCTID:49386006|ICD9:333.82|ICD10:G24.4|DOID:9854		oro-facial dyskinesia	http://purl.obolibrary.org/obo/MONDO_0004901	Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions.	DOID:9854|UMLS:C0152115|SNOMEDCT:49386006
UBERON:0001519	skin of manus	biolink:AnatomicalEntity	mondo			manus skin|skin of hand|skin of fore-paw|hand skin	http://purl.obolibrary.org/obo/UBERON_0001519	A zone of skin that is part of a manus [Automatically generated definition].	
UBERON:0001514	descending aorta	biolink:AnatomicalEntity	mondo			aorta descendens|pars descendens aortae|pars descendens aortae	http://purl.obolibrary.org/obo/UBERON_0001514	The descending aorta is the portion of the aorta in a two-pass circulatory system from the arch of aorta to the point where it divides into the common iliac arteries[GO]. The descending aorta is part of the aorta, the largest artery in the body. The descending aorta is the part of the aorta beginning at the aortic arch that runs down through the chest and abdomen. The descending aorta is divided into two portions, the thoracic and abdominal, in correspondence with the two great cavities of the trunk in which it is situated. Within the abdomen, the descending aorta branches into the two common iliac arteries which serve the legs. [WP,unvetted].	
HGNC:25716	COA7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25716		
UBERON:0001513	skin of pes	biolink:AnatomicalEntity	mondo			skin of foot|foot skin|skin of hind-paw	http://purl.obolibrary.org/obo/UBERON_0001513	A zone of skin that is part of a pes [Automatically generated definition].	
UBERON:0001516	abdominal aorta	biolink:AnatomicalEntity	mondo			descending abdominal aorta|pars abdominalis aortae|aorta abdominalis|abdominal part of aorta|pars abdominalis aortae|abdominal part of aorta	http://purl.obolibrary.org/obo/UBERON_0001516	Abdominal part of aorta: the distal part of the descending aorta, which is the continuation of the thoracic part and gives rise to the inferior phrenic, lumbar, median sacral, superior and inferior mesenteric, middle suprarenal, renal, and testicular or ovarian arteries, and celiac trunk[BTO]. The abdominal aorta is the largest artery in the abdominal cavity. As part of the aorta, it is a direct continuation of descending aorta(of the thorax). [WP,unvetted].	
UBERON:0001515	thoracic aorta	biolink:AnatomicalEntity	mondo			thoracic part of aorta|aorta thoracalis|aorta thoracica|pars thoracica aortae	http://purl.obolibrary.org/obo/UBERON_0001515	the part of the aorta that extends from the origin at the heart to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest	
UBERON:0013501	cloacal sphincter	biolink:AnatomicalEntity	mondo			sphincter cloacae	http://purl.obolibrary.org/obo/UBERON_0013501	A sphincter muscle that is part of a cloaca.	
HP:0033354	Abnormal urine metabolite level	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0033354	Any deviation from the normal concentration of a metabolite in urine.	
HP:0033353	Abnormal blood vessel morphology	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0033353	Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein).	
NCBITaxon:48796	Setaria <nematodes>	organism taxon	mondo	GC_ID:1		Setaria	http://purl.obolibrary.org/obo/NCBITaxon_48796		
NCBITaxon:48791	Setariidae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_48791		
HGNC:13733	CDH23	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13733		
MONDO:0004955	metabolic syndrome	biolink:Disease	mondo	ICD10:E88.81|ICD9:277.7|EFO:0000195|NCIT:C84442		metabolic syndrome|metabolic syndrome X	http://purl.obolibrary.org/obo/MONDO_0004955	A combination of medical conditions that, when present, increase the risk of heart attack, stroke, and diabetes mellitus. It includes the following medical conditions: increased blood pressure, central obesity, abnormal cholesterol levels, and elevated fasting glucose.	NCIT:C84442
NCBITaxon:131567	cellular organisms	organism taxon	mondo	GC_ID:1		biota	http://purl.obolibrary.org/obo/NCBITaxon_131567		
MONDO:0004954	obsolete malt lymphoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004954		
MONDO:0004957	mucinous adenocarcinoma	biolink:Disease	mondo	ICDO:8480/3|UMLS:C0334368|MESH:D002288|EFO:0000197|DOID:3030|NCIT:C26712|UMLS:C0007130|ONCOTREE:CEMU		mucoid adenocarcinoma|colloid carcinoma|mucin-producing adenocarcinoma (morphologic abnormality)|mucinous carcinoma|mucous adenocarcinoma|mucinuos carcinoma|mucin-producing adenocarcinoma|mucin-secreting carcinoma|mucous carcinoma|gelatinous carcinoma|gelatinous adenocarcinoma|CEMU|mucin-secreting adenocarcinoma|pseudomyxoma peritonei with unknown primary site|mucinous adenocarcinoma|adenocarcinoma, mucinous, malignant|mucoid carcinoma|colloid adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004957	An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland.	DOID:3030|UMLS:C0007130|NCIT:C26712|UMLS:C0334368|MESH:D002288
MONDO:0004956	metastatic prostate carcinoma	biolink:Disease	mondo	ICD9:199.1|SCTID:314994000|EFO:0000196|NCIT:C8946		prostate cancer metastatic|prostate carcinoma metastatic|metastatic prostate carcinoma|metastatic prostate cancer	http://purl.obolibrary.org/obo/MONDO_0004956	A carcinoma that arises from the prostate gland and has spread to other anatomic sites.	NCIT:C8946|SNOMEDCT:314994000
MONDO:0004951	susceptibility to HIV infection	biolink:Disease	mondo	UMLS:CN282826|OMIM:609423	predisposition	acquired immunodeficiency syndrome, progression to|AIDS, progression to|human immunodeficiency virus type 1, resistance to|human immunodeficiency virus type 1, susceptibility to|HIV-1, resistance to|HIV-1, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0004951	The type species of lentivirus and the etiologic agent of acquired immunodeficiency syndrome (AIDS). It is characterized by its cytopathic effect and affinity for the T4-lymphocyte.	UMLS:CN282826|NCIT:C14220|http://identifiers.org/omim/609423
MONDO:0004950	gastric carcinoma	biolink:Disease	mondo	DOID:10538|ICD9:230.2|UMLS:C0153420|NCIT:C4911|EFO:0000178|UMLS:C0699791|ICD9:151.3|ICD10:C16.1|DOID:5517|SCTID:187741001		stomach carcinoma|malignant tumor of fundus of stomach|gastric (stomach) cancer|cancer of the stomach|cancer of fundus of stomach|gastric fundus cancer|fundus of stomach cancer|gastric cancer|gastric cancer, NOS|gastric carcinoma|cancer of stomach|carcinoma of stomach|malignant fundus of stomach neoplasm|malignant neoplasm of fundus of stomach|Ca fundus - stomach|carcinoma of the stomach|stomach cancer	http://purl.obolibrary.org/obo/MONDO_0004950	A carcinoma that arises from epithelial cells of the stomach.	DOID:5517|UMLS:C0699791|UMLS:C0153420|DOID:10538|SNOMEDCT:187741001|NCIT:C4911
MONDO:0004953	invasive ductal breast carcinoma	biolink:Disease	mondo	ONCOTREE:IDC|EFO:0000186|NCIT:C4194|ICD9:174.8|ICDO:8500/3|SCTID:408643008|DOID:3008|ICDO:8521/3		invasive ductal carcinoma, NOS|infiltrating ductal carcinoma|invasive ductal carcinoma of breast|invasive ductal carcinoma of the breast|infiltrating ductal breast carcinoma|infiltrating ductal adenocarcinoma|breast invasive ductal carcinoma|ductal adenocarcinoma|infiltrating ductal carcinoma of breast|invasive ductal carcinoma|invasive ductal carcinoma, NST|invasive ductal carcinoma, not otherwise specified|invasive ductal breast carcinoma|invasive ductal adenocarcinoma|infiltrating ductal carcinoma of the breast|invasive ductal carcinoma, No specific type	http://purl.obolibrary.org/obo/MONDO_0004953	The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas. The gross appearance is usually typical with an irregular stellate outline. Microscopically, randomly arranged epithelial elements are seen. When large sheets of malignant cells are present, necrosis may be seen. With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma. The in situ component is nearly always ductal but occasionally may be lobular or both.	DOID:3008|NCIT:C4194|SNOMEDCT:408643008
CHEBI:26743	sphing-4-enine	biolink:ChemicalSubstance	mondo			(2S,3R)-2-aminooctadec-4-ene-1,3-diol|sphing-4-enine|4-sphingenine	http://purl.obolibrary.org/obo/CHEBI_26743	A sphingenine in which the C=C double bond is located at the 4-position.	
MONDO:0004952	Hodgkins lymphoma	biolink:Disease	mondo	ICD9:201.2|ONCOTREE:HL|ICD9:201.1|ICD9:201.90|ICDO:9650/3|ICD9:201|DOID:8567|EFO:0000183|ICD10:C81|ICD9:201.0|GARD:0002714|MESH:D006689|ICD9:201.9|Orphanet:98293|ICD10:C81.9|NCIT:C9357	ordo_group_of_disorders	stage II subdiaphragmatic Hodgkin lymphoma|Hodgkin's lymphoma|HL|Hodgkin lymphoma|Hodgkins lymphoma|Hodgkin's sarcoma|Hodgkin disease|Hodgkin lymphoma, NOS|lymphoma, Hodgkin's|Hodgkin's disease|stage I subdiaphragmatic Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0004952	Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases. There are two distinct subtypes: nodular lymphocyte predominant Hodgkin lymphoma and classical Hodgkin lymphoma. Hodgkin lymphoma involves primarily lymph nodes.	ORPHA:98293|NCIT:C9357|MESH:D006689|DOID:8567
MONDO:0016937	partial duplication of chromosome 19	biolink:Disease	mondo	Orphanet:262687|SCTID:726358004	ordo_group_of_disorders	partial trisomy of chromosome 19|partial duplication of chromosome type 19	http://purl.obolibrary.org/obo/MONDO_0016937		ORPHA:262687|SNOMEDCT:726358004
MONDO:0016938	partial trisomy of chromosome 20	biolink:Disease	mondo	SCTID:726360002|Orphanet:262692|UMLS:C4518509	ordo_group_of_disorders	partial duplication of chromosome 20|partial trisomy of chromosome type 20	http://purl.obolibrary.org/obo/MONDO_0016938		SNOMEDCT:726360002|ORPHA:262692|UMLS:C4518509
MONDO:0016939	partial duplication of the short arm of chromosome 2	biolink:Disease	mondo	Orphanet:262698|MESH:C538318|GARD:0005337|UMLS:C0795803	gard_rare|ordo_group_of_disorders	partial duplication of chromosome 2p|partial duplication of the short arm of chromosome type 2|2p duplication|trisomy 2p|partial trisomy 2p|partial trisomy of chromosome 2p|chromosome 2p duplication|2p trisomy|Duplication 2p	http://purl.obolibrary.org/obo/MONDO_0016939	Chromosome 2p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.	ORPHA:262698|MESH:C538318|UMLS:C0795803
MONDO:0016944	partial duplication of the short arm of chromosome 7	biolink:Disease	mondo	Orphanet:262749|GARD:0005355|MESH:C537819|UMLS:C0795820	ordo_group_of_disorders|gard_rare	partial trisomy 7p|chromosome 7p duplication|partial duplication of chromosome 7p|7p trisomy|Duplication 7p|partial trisomy of the short arm of chromosome 7|partial trisomy of chromosome 7p|7p duplication|partial duplication of the short arm of chromosome type 7|trisomy 7p	http://purl.obolibrary.org/obo/MONDO_0016944	Chromosome 7p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.	UMLS:C0795820|MESH:C537819|ORPHA:262749
MONDO:0016945	partial duplication of the short arm of chromosome 8	biolink:Disease	mondo	Orphanet:262758|GARD:0005361	ordo_group_of_disorders|gard_rare	chromosome 8p duplication|8p trisomy|Duplication 8p|partial duplication of chromosome 8p|8p duplication|trisomy 8p|partial trisomy of the short arm of chromosome 8|partial duplication of the short arm of chromosome type 8|partial trisomy 8p|partial trisomy of chromosome 8p	http://purl.obolibrary.org/obo/MONDO_0016945	Chromosome 8p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 8p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.	ORPHA:262758
MONDO:0016946	partial trisomy of the short arm of chromosome 9	biolink:Disease	mondo	GARD:0005364|Orphanet:262767	ordo_group_of_disorders|gard_rare	trisomy 9p|partial trisomy 9p|partial duplication of the short arm of chromosome 9|partial trisomy of the short arm of chromosome type 9|chromosome 9p duplication|partial duplication of chromosome 9p|9p trisomy|Duplication 9p|partial trisomy of chromosome 9p|9p duplication	http://purl.obolibrary.org/obo/MONDO_0016946	Chromosome 9p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 9.	ORPHA:262767
UBERON:0001592	bronchial vein	biolink:AnatomicalEntity	mondo			bronchial venous tree	http://purl.obolibrary.org/obo/UBERON_0001592	The bronchial veins are small vessels that return blood from the larger bronchi and structures at the roots of the lungs. The right side drains into the azygos vein, while the left side drains into the left superior intercostal vein or the accessory hemiazygos vein. The bronchial veins are counterparts to the bronchial arteries. The veins, however, do not return all of the blood supplied by the arteries; much of the blood that is carried in the bronchial arteries is returned to the heart via the pulmonary veins. [WP,unvetted].	
UBERON:0001591	thymic vein	biolink:AnatomicalEntity	mondo			thymic tributary of brachiocephalic vein|vena thymica|venae thymicae	http://purl.obolibrary.org/obo/UBERON_0001591	A vein that drains blood from the thymus.	
MONDO:0016947	partial duplication of the short arm of chromosome 10	biolink:Disease	mondo	Orphanet:262776	ordo_group_of_disorders	partial trisomy of chromosome 10p|partial trisomy of the short arm of chromosome 10|partial duplication of chromosome 10p	http://purl.obolibrary.org/obo/MONDO_0016947		ORPHA:262776
MONDO:0016940	partial duplication of the short arm of chromosome 3	biolink:Disease	mondo	MESH:C536811|Orphanet:262707|GARD:0005343	gard_rare|ordo_group_of_disorders	partial trisomy of the short arm of chromosome 3|3p trisomy|partial duplication of the short arm of chromosome type 3|Duplication 3p|partial duplication of chromosome 3p|3p duplication|trisomy 3p|partial trisomy 3p|partial trisomy of chromosome 3p|chromosome 3p duplication	http://purl.obolibrary.org/obo/MONDO_0016940	Chromosome 3p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3p duplication can be de novo or inherited from a parent with a balanced translocation. Treatment is based on the signs and symptoms present in each person.	MESH:C536811|ORPHA:262707
MONDO:0016941	partial duplication of the short arm of chromosome 4	biolink:Disease	mondo	Orphanet:262716	ordo_group_of_disorders	partial duplication of the short arm of chromosome type 4|partial duplication of chromosome 4p|partial trisomy of chromosome 4p|partial trisomy of the short arm of chromosome 4	http://purl.obolibrary.org/obo/MONDO_0016941		ORPHA:262716
MONDO:0016942	partial trisomy/tetrasomy of the short arm of chromosome 5	biolink:Disease	mondo	Orphanet:262725	ordo_group_of_disorders	partial trisomy/tetrasomy of chromosome 5p|partial duplication/triplication of chromosome 5p|partial duplication/triplication of the short arm of chromosome 5|partial trisomy/tetrasomy of the short arm of chromosome type 5	http://purl.obolibrary.org/obo/MONDO_0016942		ORPHA:262725
MONDO:0016943	partial duplication of the short arm of chromosome 6	biolink:Disease	mondo	Orphanet:262740|UMLS:CN036641|MESH:C537811|GARD:0005352	ordo_group_of_disorders|gard_rare	chromosome 6p duplication|partial trisomy of chromosome 6p|partial trisomy of the short arm of chromosome 6|6p trisomy|partial duplication of the short arm of chromosome type 6|Duplication 6p|6p duplication|trisomy 6p|partial trisomy 6p|partial duplication of chromosome 6p	http://purl.obolibrary.org/obo/MONDO_0016943	Chromosome 6p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. This condition can occur sporadically or be inherited from aparent who is either mildy affected (has the deletion) or carries a balanced translocation. Treatment is based on the signs and symptoms present in each person.	MESH:C537811|UMLS:CN036641|ORPHA:262740
MONDO:0004948	B-cell chronic lymphocytic leukemia	biolink:Disease	mondo	ICD10:C91.10|NCIT:C3163|MedDRA:10008958|UMLS:C0855095|ICD10:C91.1|Orphanet:67038|MESH:D015451|ICD9:204.1|OMIM:151400|GARD:0006104|DOID:1040|EFO:0000095|UMLS:C0023434	ordo_disease	B cell chronic lymphocytic leukemia|chronic lymphocytic leukemia|leukemia, chronic lymphatic|chronic B-cell lymphocytic leukemia|small lymphocytic lymphoma|chronic lymphocytic leukemia (CLL)|chronic lymphocytic leukemia, NOS|CLL|lymphoplasmacytic leukemia|B-cell chronic lymphocytic leukemia|B cell CLL|leukemia, lymphocytic, chronic|B-cell lymphocytic leukemia|CLL|chronic lymphogenous leukemia|BCLL|B-cell CLL|B-cell chronic lymphoid leukemia|B-cell chronic lymphogenous leukemia|B cell lymphocytic leukemia|leukemia, chronic LYMPHOCYTIC|chronic lymphatic leukemia|B-CLL|leukemia, chronic LYMPHOCYTIC; CLL|hematopoeitic - chronic lymphocytic leukemia (CLL)	http://purl.obolibrary.org/obo/MONDO_0004948	B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma, and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia. The clinical course is extremely heterogeneous with survival ranging from a few months to several decades.	MESH:D015451|MEDDRA:10008958|UMLS:C0855095|ORPHA:67038|UMLS:C0023434|http://identifiers.org/omim/151400|DOID:1040|NCIT:C3163
MONDO:0004947	B-cell acute lymphoblastic leukemia	biolink:Disease	mondo	SCTID:277571004|NCIT:C8936|DOID:7061|EFO:0000094		precursor B lymphoblastic leukemia/lymphoma|precursor B-lymphoblastic lymphoma/leukemia|precursor B lymphoblastic lymphoma/leukemia|B lymphoblastic leukemia/lymphoma	http://purl.obolibrary.org/obo/MONDO_0004947	A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called B acute lymphoblastic leukemia. When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001)	SNOMEDCT:277571004|NCIT:C8936|DOID:7061
UBERON:0001593	venous plexus	biolink:AnatomicalEntity	mondo			rete venosum|plexus venosus|venous network	http://purl.obolibrary.org/obo/UBERON_0001593	A congregation of multiple veins.	
HP:0008398	Hypoplastic fifth fingernail	biolink:PhenotypicFeature	mondo	UMLS:C4024682		Underdeveloped fifth fingernail|Underdeveloped fingernail of pinkie finger|Underdeveloped fingernail of little finger|Underdeveloped fingernail of pinky finger	http://purl.obolibrary.org/obo/HP_0008398	A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger.	
MONDO:0004949	neoplasm of mature B-cells	biolink:Disease	mondo	EFO:0000096|DOID:706|SCTID:269476000|ONCOTREE:MBN|NCIT:C27910|ICD9:202.0|UMLS:C1334633		mature B-cell neoplasms|mature B-cell lymphocytic neoplasm|mature B-cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0004949	A neoplasm of follicle centre B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001).	UMLS:C1334633|DOID:706|SNOMEDCT:269476000|NCIT:C27910
MONDO:0004966	gastritis (disease)	biolink:Disease	mondo	UMLS:C0267112|MESH:D005756|SCTID:4556007|DOID:4029|UMLS:C2243090|ICD9:535.01|COHD:201340|ICD9:535.00|ICD9:535.4|UMLS:C0017152|NCIT:C26780|EFO:0000217|ICD10:K29.7|ICD9:535.41|ICD9:535.0|ICD9:535.40|UMLS:C2243088|HP:0005263|UMLS:C3854048		acute gastric mucosal erosion|inflammation of stomach|gastritis|erosive gastropathy|erosive gastritis|stomach inflammation	http://purl.obolibrary.org/obo/MONDO_0004966	Inflammation of the stomach.	DOID:4029|SNOMEDCT:4556007|UMLS:C3854048|UMLS:C0017152|MESH:D005756|NCIT:C26780|UMLS:C0267112|UMLS:C2243088|UMLS:C2243090
MONDO:0002303	central retinal vein occlusion	biolink:Disease	mondo	ICD9:362.35|ICD10:H34.81|UMLS:C0154841|DOID:2450|SCTID:68478007|COHD:313761|NCIT:C118859|Orphanet:411527		central retinal vein retinal vein occlusion|central retinal Venous occlusion|retinal vein occlusion of central retinal vein	http://purl.obolibrary.org/obo/MONDO_0002303	Blockage of the central retinal vein.	NCIT:C118859|SNOMEDCT:68478007|ORPHA:411527|DOID:2450|UMLS:C0154841
CHEBI:75767	animal metabolite	biolink:ChemicalSubstance	mondo			animal metabolites	http://purl.obolibrary.org/obo/CHEBI_75767	Any eukaryotic metabolite produced during a metabolic reaction in animals that include diverse creatures from sponges, insects to mammals.	
MONDO:0004965	acinar cell carcinoma	biolink:Disease	mondo	UMLS:C0206685|ONCOTREE:ACCC|GARD:0008568|MESH:D018267|DOID:3025|NCIT:C3768|EFO:0000216|ICDO:8550/3		acinic cell carcinoma|carcinoma of acinar cell|acinic cell adenocarcinoma|acinic cell tumor|acinar cell carcinoma (morphologic abnormality)|acinar carcinoma|ACCC|carcinoma, acinar cell, malignant|acinar adenocarcinoma|acinar cell adenocarcinoma|acinar cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004965	A carcinoma that arises from epithelial cells of the acinar cell	DOID:3025|UMLS:C0206685|MESH:D018267|NCIT:C3768
MONDO:0002304	protein S deficiency	biolink:Disease	mondo	UMLS:C0242666|GARD:0004524|MESH:D018455|HGNC:9456|ICD10:D68.59|DOID:2451|ICD9:289.81|NCIT:C99026|SCTID:1563006	gard_rare	Protein S deficiency|Protein S deficiency disease	http://purl.obolibrary.org/obo/MONDO_0002304	Protein S deficiency is a disorder that causes abnormal blood clotting. When someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding. Other proteins in the blood, such as protein S, usually regulate these chemical reactions to prevent excessive clotting. When protein S is missing (deficient), clotting may not be regulatednormally and affected individuals havean increased risk of forming a blood clot called a thrombosis. People at risk to haveprotein S deficiencyare those with an individual or family history of multiple blood clots in the veins. Treatment may include taking medication known as blood thinners to decrease the chance of developing a blood clot.	NCIT:C99026|DOID:2451|MESH:D018455|SNOMEDCT:1563006|UMLS:C0242666
CHEBI:75768	mammalian metabolite	biolink:ChemicalSubstance	mondo			mammalian metabolites	http://purl.obolibrary.org/obo/CHEBI_75768	Any animal metabolite produced during a metabolic reaction in mammals.	
MONDO:0004968	obsolete acute myelomonocytic leukemia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004968		
MONDO:0002305	thrombophilia	biolink:Disease	mondo	MESH:D019851|COHD:4295287|NCIT:C84479|DOID:2452|OMIMPS:188050|ICD10:D68.59|ICD9:286.9|UMLS:C0398623|SCTID:234467004		excessive blood clotting|hypercoagulable|hypercoagulability|hypercoagulability state	http://purl.obolibrary.org/obo/MONDO_0002305	A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome.	UMLS:C0398623|DOID:2452|MESH:D019851|SNOMEDCT:234467004|NCIT:C84479
MONDO:0004967	acute lymphoblastic leukemia (disease)	biolink:Disease	mondo	COHD:134305|GARD:0000522|ICD9:204.9|ICD10:C91.0|ICD10:C91.9|DOID:9952|EFO:0000220|SCTID:91857003|ICD9:204.0|NCIT:C3167|Orphanet:513|HP:0006721|ICD10:C91.90|ICD9:204|ICD10:C91.00|ICD10:C91|ICDO:9835/3|DOID:1037|ICD9:204.00	gard_rare|ordo_group_of_disorders	ALL|acute lymphocytic leukaemia|acute lymphoblastic leukemia, NOS|acute lymphocytic leukemia|leukemia, lymphoblastic, malignant|acute lymphoid leukemia|acute lymphoblastic leukemia (ALL)|acute lymphogenous leukemia|acute lymphoblastic leukemia|acute lymphoblastic leukemia/lymphoma|ALL - acute lymphocytic leukemia|precursor lymphoblastic leukemia|precursor cell lymphoblastic leukemia|precursor Lymphoblasic leukemia|lymphoblastic leukemia, acute|acute lymphocytic leukemias|lymphoblastic leukemia	http://purl.obolibrary.org/obo/MONDO_0004967	Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia.	ORPHA:513|DOID:1037|SNOMEDCT:91857003|NCIT:C3167|DOID:9952
MONDO:0002306	angular blepharoconjunctivitis	biolink:Disease	mondo	ICD10:H10.52|DOID:2455|UMLS:C0155149|SCTID:69397000|ICD9:372.21|COHD:375283			http://purl.obolibrary.org/obo/MONDO_0002306	A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area.	UMLS:C0155149|DOID:2455|SNOMEDCT:69397000
MONDO:0004962	stage II endometrioid carcinoma	biolink:Disease	mondo	EFO:0000206			http://purl.obolibrary.org/obo/MONDO_0004962	Endometrial carcinoma is a carcinoma that arises from the endometrium (the lining of the uterus or womb). It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage II the cancer has spread from the body of the uterus and is growing into the supporting connective tissue of the cervix (called the cervical stroma). The cancer has spread into connective tissue of the cervix, but has not spread outside the uterus.	
MONDO:0002300	dermis tumor	biolink:Disease	mondo	UMLS:C0346041|NCIT:C4475|DOID:2438		dermis neoplasm|dermal tumor|neoplasm of the dermis|neoplasm of dermis|dermal neoplasm|dermis neoplasm (disease)|tumor of the dermis|dermis tumor|tumor of dermis	http://purl.obolibrary.org/obo/MONDO_0002300	A benign, intermediate, or malignant neoplasm that arises from the dermis.	DOID:2438|UMLS:C0346041|NCIT:C4475
MONDO:0004961	stage I endometrioid carcinoma	biolink:Disease	mondo	EFO:0000205			http://purl.obolibrary.org/obo/MONDO_0004961	Endometrial cancer is a cancer that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage I, the cancer is only growing in the body of the uterus. It may also be growing into the glands of the cervix, but is not growing into the supporting connective tissue of the cervix.	
UBERON:0001579	olfactory nerve	biolink:AnatomicalEntity	mondo			first cranial nerve|1n|olfactoria fila|nervus olfactorius|olfactory i nerve|nerve I|fila olfactoria|cranial nerve I|olfactory fila|olfactory I|olfactory nerve [I]|nerve of smell|CN-I|nervus olfactorius [i]	http://purl.obolibrary.org/obo/UBERON_0001579	Nerve that carries information from the olfactory epithelium to the olfactory bulb[Butler and Hodos].	
CHEBI:75769	B vitamin	biolink:ChemicalSubstance	mondo			B vitamins|B-group vitamins|B-group vitamin|vitamin B	http://purl.obolibrary.org/obo/CHEBI_75769	A role played by any of the group of eight water-soluble vitamins originally thought to be a single compound (vitamin B). The group comprises of vitamin B1, B2, B3, B5, B6, B7, B9, and B12 (Around 20 other compounds were once thought to be B vitamins but are no longer classified as such). B vitamins play important roles in cell metabolism.	
MONDO:0004964	peripheral T-cell lymphoma, not otherwise specified	biolink:Disease	mondo	EFO:0000211|ONCOTREE:PTCL|NCIT:C4340		peripheral T-cell lymphoma, NOS|PTCL|peripheral T-cell lymphoma, not otherwise specified	http://purl.obolibrary.org/obo/MONDO_0004964	Aggressive nodal or extranodal mature (peripheral) T-cell lymphomas that do not belong to the better defined entities of the remainder of mature T-cell lymphomas. This category includes the following variants: lymphoepithelioid cell variant (Lennert's lymphoma), follicular variant, and T-zone variant.	NCIT:C4340
MONDO:0002301	frontal sinus squamous cell carcinoma	biolink:Disease	mondo	NCIT:C6067|DOID:2441|SCTID:707356001|UMLS:C1333646		epidermoid carcinoma of frontal sinus|epidermoid carcinoma of the frontal sinus|squamous cell carcinoma of the frontal sinus|squamous cell carcinoma of frontal sinus|frontal sinus squamous cell carcinoma|frontal sinus epidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0002301	A squamous cell carcinoma that arises from the mucosal epithelial surface of the frontal sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.	NCIT:C6067|SNOMEDCT:707356001|DOID:2441|UMLS:C1333646
MONDO:0004963	T-cell acute lymphoblastic leukemia	biolink:Disease	mondo	ICDO:9837/3|NCIT:C3183|EFO:0000209|HGNC:5056		T-cell acute lymphocytic leukemia|acute T-cell lymphoblastic leukemia|T-cell ALL|T acute lymphoblastic leukemia|T-cell type acute leukemia|acute T cell lymphoblastic leukemia|T-ALL|acute T-cell leukemia|acute T-cell lymphocytic leukemia|T-cell acute lymphoblastic leukemia|acute T cell leukemia|precursor T-lymphoblastic leukemia|acute T cell lymphocytic leukemia|precursor T-lymphoblastic leukemia (T-cell ALL)	http://purl.obolibrary.org/obo/MONDO_0004963	Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001)	NCIT:C3183
MONDO:0002302	obsolete acromegaly	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002302		
MONDO:0004960	monoclonal gammopathy	biolink:Disease	mondo	NCIT:C35548|SCTID:109983007|ICD10:D47.2|MESH:D010265|EFO:0000203|COHD:4002359			http://purl.obolibrary.org/obo/MONDO_0004960	A condition characterized by the abnormal presence of monoclonal immunoglobulins in the blood or urine.	MESH:D010265|SNOMEDCT:109983007|NCIT:C35548
HP:0200067	Recurrent spontaneous abortion	biolink:PhenotypicFeature	mondo	UMLS:C3279439		Spontaneous abortion, recurrent	http://purl.obolibrary.org/obo/HP_0200067	Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference.	
MONDO:0016926	obsolete Geleophysic dysplasia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016926		
MONDO:0016927	partial duplication of chromosome 6	biolink:Disease	mondo	SCTID:726345000|Orphanet:262628	ordo_group_of_disorders	partial duplication of chromosome type 6|partial trisomy of chromosome 6	http://purl.obolibrary.org/obo/MONDO_0016927		ORPHA:262628|SNOMEDCT:726345000
MONDO:0016928	partial duplication of chromosome 7	biolink:Disease	mondo	Orphanet:262633|SCTID:726346004	ordo_group_of_disorders	partial trisomy of chromosome 7|partial duplication of chromosome type 7	http://purl.obolibrary.org/obo/MONDO_0016928		ORPHA:262633|SNOMEDCT:726346004
MONDO:0016929	partial duplication of chromosome 8	biolink:Disease	mondo	MESH:C537941|SCTID:726347008|Orphanet:262638	ordo_group_of_disorders	partial duplication of chromosome type 8|partial trisomy of chromosome 8	http://purl.obolibrary.org/obo/MONDO_0016929		ORPHA:262638|MESH:C537941|SNOMEDCT:726347008
MONDO:0016933	partial trisomy/tetrasomy of the short arm of chromosome 12	biolink:Disease	mondo	Orphanet:262658	ordo_group_of_disorders	partial trisomy/tetrasomy of chromosome 12p|partial trisomy/tetrasomy of the short arm of chromosome type 12|partial duplication/triplication of the short arm of chromosome 12|partial duplication/triplication of chromosome 12p	http://purl.obolibrary.org/obo/MONDO_0016933		ORPHA:262658
MONDO:0016934	partial duplication of chromosome 16	biolink:Disease	mondo	Orphanet:262672|SCTID:726355001	ordo_group_of_disorders	partial trisomy of chromosome 16|partial duplication of chromosome type 16	http://purl.obolibrary.org/obo/MONDO_0016934		SNOMEDCT:726355001|ORPHA:262672
MONDO:0016935	partial duplication of chromosome 17	biolink:Disease	mondo	UMLS:C4518505|SCTID:726356000|Orphanet:262677	ordo_group_of_disorders	partial trisomy of chromosome 17|partial duplication of chromosome type 17	http://purl.obolibrary.org/obo/MONDO_0016935		SNOMEDCT:726356000|UMLS:C4518505|ORPHA:262677
MONDO:0016936	partial trisomy/tetrasomy of chromosome 18	biolink:Disease	mondo	Orphanet:262682	ordo_group_of_disorders	partial duplication/triplication of chromosome 18|partial trisomy/tetrasomy of chromosome type 18	http://purl.obolibrary.org/obo/MONDO_0016936		ORPHA:262682
MONDO:0016930	partial trisomy/tetrasomy of chromosome 9	biolink:Disease	mondo	Orphanet:262643	ordo_group_of_disorders	partial trisomy/tetrasomy of chromosome type 9|partial duplication/triplication of chromosome 9	http://purl.obolibrary.org/obo/MONDO_0016930		ORPHA:262643
MONDO:0016931	partial duplication of chromosome 10	biolink:Disease	mondo	Orphanet:262648|SCTID:726349006	ordo_group_of_disorders	partial trisomy of chromosome 10	http://purl.obolibrary.org/obo/MONDO_0016931		SNOMEDCT:726349006|ORPHA:262648
MONDO:0016932	partial duplication of chromosome 11	biolink:Disease	mondo	Orphanet:262653|SCTID:726350006	ordo_group_of_disorders	partial duplication of chromosome type 11|partial trisomy of chromosome 11	http://purl.obolibrary.org/obo/MONDO_0016932		SNOMEDCT:726350006|ORPHA:262653
HGNC:13711	POF1B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13711		
UBERON:0001586	internal jugular vein	biolink:AnatomicalEntity	mondo			vena jugularis interna|internal jugular|internal jugular venous tree	http://purl.obolibrary.org/obo/UBERON_0001586	One of two jugular veins that collect the blood from the brain, the superficial parts of the face, and the neck. [WP,unvetted].	
MONDO:0004959	plasma cell neoplasm	biolink:Disease	mondo	Orphanet:98282|UMLS:C1959632|SCTID:415111003|ICD9:238.6|COHD:443743|MESH:D054219|NCIT:C4665|DOID:6536|EFO:0000200	ordo_group_of_disorders	plasma cell tumor, malignant|plasmacytic tumour|plasma cell tumor|plasma cell neoplasm|plasma cell dyscrasia|plasma cell tumour|plasmacytic tumor|plasma cell disorder|plasmacytic neoplasm	http://purl.obolibrary.org/obo/MONDO_0004959	A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance.	DOID:6536|ORPHA:98282|MESH:D054219|UMLS:C1959632|SNOMEDCT:415111003|NCIT:C4665
CHEBI:75763	eukaryotic metabolite	biolink:ChemicalSubstance	mondo			eukaryotic metabolites	http://purl.obolibrary.org/obo/CHEBI_75763	Any  metabolite produced during a metabolic reaction in eukaryotes, the taxon that include members of the fungi, plantae and animalia kingdoms.	
MONDO:0004958	oral cavity squamous cell carcinoma	biolink:Disease	mondo	GARD:0007263|UMLS:C0585362|ONCOTREE:OCSC|EFO:0000199|NCIT:C4833|DOID:0050866|Orphanet:502363|SCTID:307502000	gard_rare|ordo_disease	oral cavity squamous cell carcinoma|scc of the oral cavity|scc of the mouth|scc of oral cavity|oral cavity scc|scc of mouth|mouth scc|squamous cell carcinoma of the oral cavity|mouth squamous cell carcinoma|OCSC|squamous cell carcinoma of oral cavity|squamous cell carcinoma of the mouth|squamous cell carcinoma of mouth|oral squamous cell carcinoma|oral cavity squamous cell cancer	http://purl.obolibrary.org/obo/MONDO_0004958	A squamous cell carcinoma arising from the oral cavity. It affects predominantly adults in their fifth and sixth decades of life and is associated with alcohol and tobacco use. Human papillomavirus is present in approximately half of the cases. It is characterized by a tendency to metastasize early to the lymph nodes. When the tumor is small, patients are often asymptomatic. Physical examination may reveal erythematous or white lesions or plaques. The majority of patients present with signs and symptoms of locally advanced disease including mucosal ulceration, pain, difficulty with speaking, chewing, and swallowing, bleeding, weight loss, and neck swelling. Patients may also present with swollen neck lymph nodes without any symptoms from the oropharyngeal tumor. The most significant prognostic factors are the size of the tumor and the lymph nodes status.	UMLS:C0585362|ORPHA:502363|DOID:0050866|SNOMEDCT:307502000|NCIT:C4833
UBERON:0001585	anterior vena cava	biolink:AnatomicalEntity	mondo			cranial vena cava|superior vena cava|precava|vena cava superior|vena maxima|superior caval vein	http://purl.obolibrary.org/obo/UBERON_0001585	A vein that carries deoxygenated blood from the upper half of the body into the right atrium of the heart.	
UBERON:0001584	left subclavian artery	biolink:AnatomicalEntity	mondo			arteria subclavia (sinistra)	http://purl.obolibrary.org/obo/UBERON_0001584	The subclavian artery that supplies the left pectoral appendage	
MONDO:0004933	hypoplastic left heart syndrome	biolink:Disease	mondo	COHD:440207|OMIMPS:241550|UMLS:C0152101|MESH:D018636|DOID:9955|MedDRA:10021076|ICD10:Q23.4|NCIT:C98894|ICD9:746.7|GARD:0006739|Orphanet:2248|SCTID:62067003	ordo_morphological_anomaly	HLHS	http://purl.obolibrary.org/obo/MONDO_0004933	Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis.	SNOMEDCT:62067003|ORPHA:2248|MEDDRA:10021076|MESH:D018636|NCIT:C98894|DOID:9955|UMLS:C0152101
MONDO:0004932	null-cell leukemia	biolink:Disease	mondo	UMLS:C0023483|DOID:9954|SCTID:277574007		null cell acute lymphoblastic leukemia	http://purl.obolibrary.org/obo/MONDO_0004932		SNOMEDCT:277574007|UMLS:C0023483|DOID:9954
MONDO:0004935	acquired carotenemia	biolink:Disease	mondo	DOID:9969|COHD:433985|SCTID:35487009|ICD9:278.3		hypercarotinemia|carotenemia	http://purl.obolibrary.org/obo/MONDO_0004935		DOID:9969|SNOMEDCT:35487009
MONDO:0004934	periostitis (disease)	biolink:Disease	mondo	SCTID:41910004|DOID:9957|HP:0040165|MESH:D010522|NCIT:C13184|UMLS:C0031111		periosteum inflammation|periostitis|inflammation of periosteum|periosteum	http://purl.obolibrary.org/obo/MONDO_0004934	Inflammation of the periosteum. The condition is generally chronic, and is marked by tenderness and swelling of the bone and an aching pain. Acute periostitis is due to infection, is characterized by diffuse suppuration, severe pain, and constitutional symptoms, and usually results in necrosis. (Dorland, 27th ed)	DOID:9957|UMLS:C0031111|SNOMEDCT:41910004|MESH:D010522|NCIT:C13184
UBERON:0001568	muscle of larynx	biolink:AnatomicalEntity	mondo			musculi laryngeales|muscle organ of larynx|larynx muscle organ|larynx muscle|laryngeal muscle	http://purl.obolibrary.org/obo/UBERON_0001568	The muscles associated with the larynx.	
MONDO:0004931	residual stage corticosteroid-induced glaucoma	biolink:Disease	mondo	ICD9:365.32|DOID:9948|UMLS:C0339580|SCTID:193549003			http://purl.obolibrary.org/obo/MONDO_0004931		SNOMEDCT:193549003|UMLS:C0339580|DOID:9948
MONDO:0004930	steroid-induced glaucoma	biolink:Disease	mondo	UMLS:C0339578|ICD9:365.89|SCTID:1654001|DOID:9946|ICD9:365.3		corticosteroid-induced glaucoma	http://purl.obolibrary.org/obo/MONDO_0004930		UMLS:C0339578|SNOMEDCT:1654001|DOID:9946
MONDO:0016919	partial deletion of the long arm of chromosome 21	biolink:Disease	mondo	ICD10:Q93.5|Orphanet:262173	ordo_group_of_disorders	partial deletion of the long arm of chromosome type 21|partial monosomy of the long arm of chromosome 21|partial deletion of chromosome 21q|partial monosomy of chromosome 21q	http://purl.obolibrary.org/obo/MONDO_0016919		ORPHA:262173
HP:0200036	Skin nodule	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:95319004|UMLS:C0037287		Growth of abnormal tissue on or under the skin	http://purl.obolibrary.org/obo/HP_0200036	Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat.	
MONDO:0016915	partial deletion of the long arm of chromosome 17	biolink:Disease	mondo	Orphanet:262137|ICD10:Q93.5	ordo_group_of_disorders	partial deletion of the long arm of chromosome type 17|partial monosomy of the long arm of chromosome 17|partial deletion of chromosome 17q|partial monosomy of chromosome 17q	http://purl.obolibrary.org/obo/MONDO_0016915		ORPHA:262137
MONDO:0016916	partial deletion of the long arm of chromosome 18	biolink:Disease	mondo	Orphanet:262146|ICD10:Q93.5|GARD:0013000	gard_rare|ordo_group_of_disorders	partial deletion of the long arm of chromosome type 18|chromosome 18q deletion|partial monosomy of the long arm of chromosome 18|partial deletion of chromosome 18q|partial monosomy of chromosome 18q	http://purl.obolibrary.org/obo/MONDO_0016916		ORPHA:262146
MONDO:0016917	partial deletion of the long arm of chromosome 19	biolink:Disease	mondo	ICD10:Q93.5|Orphanet:262155	ordo_group_of_disorders	partial monosomy of the long arm of chromosome 19|partial deletion of chromosome 19q|partial monosomy of chromosome 19q|partial deletion of the long arm of chromosome type 19	http://purl.obolibrary.org/obo/MONDO_0016917		ORPHA:262155
MONDO:0016918	partial deletion of the long arm of chromosome 20	biolink:Disease	mondo	ICD10:Q93.5|Orphanet:262164	ordo_group_of_disorders	partial deletion of the long arm of chromosome type 20|partial monosomy of the long arm of chromosome 20|partial deletion of chromosome 20q|partial monosomy of chromosome 20q	http://purl.obolibrary.org/obo/MONDO_0016918		ORPHA:262164
MONDO:0016922	partial duplication of chromosome 2	biolink:Disease	mondo	SCTID:726340005|Orphanet:262196	ordo_group_of_disorders	partial duplication of chromosome type 2|partial trisomy of chromosome 2	http://purl.obolibrary.org/obo/MONDO_0016922		SNOMEDCT:726340005|ORPHA:262196
MONDO:0016923	partial duplication of chromosome 3	biolink:Disease	mondo	SCTID:726341009|Orphanet:262201	ordo_group_of_disorders	partial trisomy of chromosome 3|partial duplication of chromosome type 3	http://purl.obolibrary.org/obo/MONDO_0016923		SNOMEDCT:726341009|ORPHA:262201
MONDO:0016924	partial duplication of chromosome 4	biolink:Disease	mondo	SCTID:726342002|Orphanet:262206	ordo_group_of_disorders	partial duplication of chromosome type 4|partial trisomy of chromosome 4	http://purl.obolibrary.org/obo/MONDO_0016924		SNOMEDCT:726342002|ORPHA:262206
MONDO:0016925	partial trisomy/tetrasomy of chromosome 5	biolink:Disease	mondo	Orphanet:262211	ordo_group_of_disorders	partial duplication/triplication of chromosome 5|partial trisomy/tetrasomy of chromosome type 5	http://purl.obolibrary.org/obo/MONDO_0016925		ORPHA:262211
GO:0048609	multicellular organismal reproductive process	biolink:OntologyClass	mondo			reproductive process in a multicellular organism|organismal reproductive process	http://purl.obolibrary.org/obo/GO_0048609	The process, occurring above the cellular level, that is pertinent to the reproductive function of a multicellular organism. This includes the integrated processes at the level of tissues and organs.	
MONDO:0016920	partial deletion of the long arm of chromosome 22	biolink:Disease	mondo	Orphanet:262182|ICD10:Q93.5	ordo_group_of_disorders	partial deletion of chromosome 22q|partial monosomy of chromosome 22q|partial deletion of the long arm of chromosome type 22|partial monosomy of the long arm of chromosome 22	http://purl.obolibrary.org/obo/MONDO_0016920		ORPHA:262182
CHEBI:38702	inorganic sodium salt	biolink:ChemicalSubstance	mondo			inorganic sodium salts	http://purl.obolibrary.org/obo/CHEBI_38702		
MONDO:0016921	partial duplication of chromosome 1	biolink:Disease	mondo	SCTID:726338000|Orphanet:262191	ordo_group_of_disorders	partial duplication of chromosome type 1|partial trisomy of chromosome 1	http://purl.obolibrary.org/obo/MONDO_0016921		SNOMEDCT:726338000|ORPHA:262191
UBERON:0001576	intrinsic muscle of tongue	biolink:AnatomicalEntity	mondo			intrinsic tongue muscle|intrinsic lingual muscle	http://purl.obolibrary.org/obo/UBERON_0001576	The intrinsic tongue muscles are an integral part of the tongue and completely contained within the tongue that are innervated by Cranial Nerve XII.	
UBERON:0001575	extrinsic muscle of tongue	biolink:AnatomicalEntity	mondo			extrinsic lingual muscle|extrinsic tongue muscle	http://purl.obolibrary.org/obo/UBERON_0001575	A muscle organ that attaches the tongue to some other structure.	
CHEBI:75771	mouse metabolite	biolink:ChemicalSubstance	mondo			mouse metabolites|Mus musculus metabolites|Mus musculus metabolite	http://purl.obolibrary.org/obo/CHEBI_75771	Any mammalian metabolite produced during a metabolic reaction in a mouse (Mus musculus).	
MONDO:0004929	constant exophthalmos	biolink:Disease	mondo	UMLS:C0155267|ICD9:376.31|SCTID:89907009|ICD10:H05.24|COHD:434943|DOID:9945			http://purl.obolibrary.org/obo/MONDO_0004929		SNOMEDCT:89907009|DOID:9945|UMLS:C0155267
UBERON:0001577	facial muscle	biolink:AnatomicalEntity	mondo			craniofacial muscle|muscles of facial expression|facial muscle proper|cranial-facial muscle|facial nerve muscle|muscle organ of face|muscle of face|mimetic muscles|musculi faciei|facial nerve innervated muscle|cranio-facial muscle|face muscle organ|facial muscle|face muscle|muscle of facil expression	http://purl.obolibrary.org/obo/UBERON_0001577	A muscle innervated by a facial nerve.	
MONDO:0004926	dacryocystitis	biolink:Disease	mondo	SCTID:85777005|ICD10:H04.30|COHD:439025|MESH:D003607|DOID:9938|ICD9:375.30|NCIT:C34521|UMLS:C0010930		lacrimal sac inflammation|dacryoadenitis|Dacryoadenitides|inflammation of lacrimal sac|Dacryocystitides	http://purl.obolibrary.org/obo/MONDO_0004926	Inflammation of the lacrimal sac.	UMLS:C0010930|SNOMEDCT:85777005|DOID:9938|MESH:D003607|NCIT:C34521
UBERON:0001572	hyoglossus muscle	biolink:AnatomicalEntity	mondo			hyoglossus|m. hyoglossus	http://purl.obolibrary.org/obo/UBERON_0001572	A muscle that attaches to the hyopid bone and to the tongue and is innervated by cranial nerve XII	
HP:0008373	Puberty and gonadal disorders	biolink:PhenotypicFeature	mondo	UMLS:C4024685		Puberty and gonadal disorders	http://purl.obolibrary.org/obo/HP_0008373		
MONDO:0004925	chronic dacryocystitis	biolink:Disease	mondo	ICD9:375.42|COHD:438760|SCTID:84627005|DOID:9937|UMLS:C0149506|ICD10:H04.41		dacryocystitis, chronic	http://purl.obolibrary.org/obo/MONDO_0004925	Chronic form of dacryocystitis.	UMLS:C0149506|SNOMEDCT:84627005|DOID:9937
UBERON:0001571	genioglossus muscle	biolink:AnatomicalEntity	mondo			musculus genioglossus|genioglossus|m. genioglossus	http://purl.obolibrary.org/obo/UBERON_0001571	Either of a pair of lingual muscles with origin in the mandible, with insertion to the lingual fascia below the mucous membrane and epiglottis, with nerve supply from the hypoglossal nerve, and whose action depresses and protrudes the tongue.	
MONDO:0004928	lymph node disease	biolink:Disease	mondo	NCIT:C35346|SCTID:76616003|UMLS:C0272394|DOID:9942		lymph node disease|lymph node disease or disorder|disorder of lymph node|lymph node disorder|disease of lymph node|disorder of lymph node|disease or disorder of lymph node	http://purl.obolibrary.org/obo/MONDO_0004928	Any disorder of the lymph nodes.	DOID:9942|UMLS:C0272394|NCIT:C35346|SNOMEDCT:76616003
CHEBI:75772	Saccharomyces cerevisiae metabolite	biolink:ChemicalSubstance	mondo			S. cerevisiae metabolites|S. cerevisiae metabolite|Saccharomyces cerevisiae secondary metabolites|baker's yeast metabolite|S. cerevisiae secondary metabolite|Saccharomyces cerevisiae metabolites|baker's yeast secondary metabolites|baker's yeast secondary metabolite|S. cerevisiae secondary metabolites|baker's yeast metabolites	http://purl.obolibrary.org/obo/CHEBI_75772	Any  fungal metabolite produced during a metabolic reaction in Baker's yeast (Saccharomyces cerevisiae).	
MONDO:0004927	dacryocystocele	biolink:Disease	mondo	DOID:9939|ICD9:375.43|COHD:434951		lacrimal mucocele	http://purl.obolibrary.org/obo/MONDO_0004927	A congenital or acquired mucocele that develops in the lacrimal sac. It is usually the result of nasolacrimal duct abnormalities or obstruction.	NCIT:C98968|DOID:9939
MONDO:0004944	neurosyphilis	biolink:Disease	mondo	UMLS:C0027927|NCIT:C84935|GARD:0008729|ICD9:094.89|ICD9:094.9|ICD10:A52.3|SCTID:26039008|ICD9:094|DOID:9988	gard_rare	neurosyphilis|late neurosyphilis|tertiary neurosyphilis	http://purl.obolibrary.org/obo/MONDO_0004944	Infection of the brain or spinal cord by Treponema pallidum. It occurs many years following the original infection which remained untreated. Signs and symptoms include abnormal gait, blindness, depression, paralysis, seizures and dementia.	SNOMEDCT:26039008|UMLS:C0027927|DOID:9988|NCIT:C84935
MONDO:0004943	orbit sarcoma	biolink:Disease	mondo	UMLS:C1335131|DOID:9987|NCIT:C6095|SCTID:699354006		orbit of skull sarcoma|sarcoma of the orbit|sarcoma of orbit|sarcoma of orbit of skull|orbital sarcoma	http://purl.obolibrary.org/obo/MONDO_0004943	A malignant soft tissue neoplasm that arises from the structures of the orbit. The majority of the cases are rhabdomyosarcomas.	NCIT:C6095|SNOMEDCT:699354006|UMLS:C1335131|DOID:9987
MONDO:0004946	hypoglycemia	biolink:Disease	mondo	COHD:24609|NCIT:C3126|ICD10:E16.2|ICD9:251.1|ICD9:251.2|SCTID:302866003|UMLS:C0020615|MESH:D007003|DOID:9993		glucose, Low blood|low blood glucose|blood glucose, Low|hypoglycaemia	http://purl.obolibrary.org/obo/MONDO_0004946	Abnormally low level of glucose in the blood.	UMLS:C0020615|SNOMEDCT:302866003|MESH:D007003|NCIT:C3126|DOID:9993
CHEBI:75787	prokaryotic metabolite	biolink:ChemicalSubstance	mondo			prokaryotic metabolites	http://purl.obolibrary.org/obo/CHEBI_75787	Any metabolite produced during a metabolic reaction in prokaryotes, the taxon that include members of domains such as the bacteria and archaea.	
MONDO:0004945	obsolete hypereosinophilic syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004945		
MONDO:0004940	acute female pelvic peritonitis	biolink:Disease	mondo	SCTID:85051008|UMLS:C0269032|COHD:199885|DOID:9978|ICD10:N73.3|ICD9:614.5			http://purl.obolibrary.org/obo/MONDO_0004940		SNOMEDCT:85051008|UMLS:C0269032|DOID:9978
UBERON:0001558	lower respiratory tract	biolink:AnatomicalEntity	mondo			lower respiratory system	http://purl.obolibrary.org/obo/UBERON_0001558	The segment of the respiratory tract that starts proximally with the trachea and includes all distal structures including the lungs[WP,modified]	
UBERON:0001557	upper respiratory tract	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0001557	The segment of the respiratory tract that starts proximally with the nose and ends distally with the cricoid cartilage, before continuing to the trachea.	
MONDO:0004942	orbit lymphoma	biolink:Disease	mondo	NCIT:C6244|GARD:0009719|DOID:9986|SCTID:13048006|UMLS:C0271333|MESH:C537131		lymphoma of orbit|lymphoma of the orbit|orbital lymphoma|primary orbit lymphoma|primary orbital lymphoma	http://purl.obolibrary.org/obo/MONDO_0004942	A lymphoma that arises from the structures of the orbit. Representative examples include mucosa-associated lymphoid tissue lymphoma, follicular lymphoma, and diffuse large B-cell lymphoma.	MESH:C537131|NCIT:C6244|DOID:9986|UMLS:C0271333|SNOMEDCT:13048006
HP:0200042	Skin ulcer	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:46742003|UMLS:C0037299|MEDDRA:10040943|MSH:D012883	hposlim_core	Open skin sore	http://purl.obolibrary.org/obo/HP_0200042	A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.	
MONDO:0004941	eosinophilia-myalgia syndrome	biolink:Disease	mondo	SCTID:95416007|DOID:998|GARD:0006345|MESH:D016603|EFO:1001316|COHD:258828|ICD9:710.5	gard_rare	severe muscle pain and abnormally high eosinophils|EMS|syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart|L-tryptophan induced EMS|eosinophilia myalgia syndrome	http://purl.obolibrary.org/obo/MONDO_0004941	A complex systemic syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart. Diagnostic features generally include eosinophilia, myalgia severe enough to limit usual activities of daily living, and the absence of coexisting infectious, autoimmune or other conditions that may induce eosinophilia. Biopsy of affected tissue reveals a microangiopathy associated with diffuse inflammation involving connective tissue. (From Spitzer et al., J Rheumatol Suppl 1996 Oct;46:73-9; Blackburn wd, Semin Arthritis Rheum 1997 Jun;26(6):788-93)	SNOMEDCT:95416007|DOID:998|MESH:D016603
MONDO:0016908	partial monosomy of the long arm of chromosome 9	biolink:Disease	mondo	ICD10:Q93.5|Orphanet:262074	ordo_group_of_disorders	partial monosomy of the long arm of chromosome type 9|partial deletion of chromosome 9q|partial deletion of the long arm of chromosome 9|partial monosomy of chromosome 9q	http://purl.obolibrary.org/obo/MONDO_0016908		ORPHA:262074
MONDO:0016909	partial monosomy of the long arm of chromosome 10	biolink:Disease	mondo	Orphanet:262083|ICD10:Q93.5|UMLS:C0795839	ordo_group_of_disorders	partial monosomy of the long arm of chromosome type 10|partial deletion of the long arm of chromosome 10|partial deletion of chromosome 10q|partial monosomy of chromosome 10q	http://purl.obolibrary.org/obo/MONDO_0016909		ORPHA:262083|UMLS:C0795839
MONDO:0016904	partial deletion of the long arm of chromosome 5	biolink:Disease	mondo	Orphanet:262038|ICD10:Q93.5	ordo_group_of_disorders	partial monosomy of chromosome 5q|partial monosomy of the long arm of chromosome 5|partial deletion of chromosome 5q|partial deletion of the long arm of chromosome type 5	http://purl.obolibrary.org/obo/MONDO_0016904		ORPHA:262038
MONDO:0016905	partial deletion of the long arm of chromosome 6	biolink:Disease	mondo	UMLS:C0795816|GARD:0003760|MESH:C537807|Orphanet:262047|ICD10:Q93.5	gard_rare|ordo_group_of_disorders	deletion 6q|partial monosomy of chromosome 6q|chromosome 6q deletion|partial deletion of chromosome 6q|6q deletion|partial deletion of the long arm of chromosome type 6|partial monosomy 6q|monosomy 6q|6q monosomy|partial monosomy of the long arm of chromosome 6	http://purl.obolibrary.org/obo/MONDO_0016905	Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 6q deletion include developmental delay, intellectual disability, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.	ORPHA:262047|UMLS:C0795816|MESH:C537807
MONDO:0016906	partial deletion of the long arm of chromosome 7	biolink:Disease	mondo	NCIT:C36408|ICD10:Q93.5|Orphanet:262056|GARD:0003765	gard_rare|ordo_group_of_disorders	partial monosomy of chromosome 7q|7q monosomy|partial monosomy 7q|loss of chromosome 7q|partial deletion of chromosome 7q|monosomy 7q|deletion 7q|del(7q)|partial deletion of the long arm of chromosome type 7|partial monosomy of the long arm of chromosome 7|7q deletion	http://purl.obolibrary.org/obo/MONDO_0016906	Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.	ORPHA:262056|NCIT:C36408
MONDO:0016907	partial deletion of the long arm of chromosome 8	biolink:Disease	mondo	GARD:0003770|MESH:C537828|ICD10:Q93.5|UMLS:C0795828|Orphanet:262065	gard_rare|ordo_group_of_disorders	chromosome 8q deletion|deletion 8q|partial deletion of chromosome 8q|partial deletion of the long arm of chromosome type 8|8q deletion|partial monosomy of the long arm of chromosome 8|8q monosomy|partial monosomy 8q|monosomy 8q|partial monosomy of chromosome 8q	http://purl.obolibrary.org/obo/MONDO_0016907	Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 8q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.	ORPHA:262065|UMLS:C0795828|MESH:C537828
MONDO:0016911	partial deletion of the long arm of chromosome 13	biolink:Disease	mondo	MESH:C535449|ICD10:Q93.5|Orphanet:262101|NCIT:C36497|GARD:0001738	gard_rare|ordo_group_of_disorders	partial monosomy of chromosome 13q|partial deletion of the long arm of chromosome type 13|del(13q)|partial monosomy of the long arm of chromosome 13|loss of chromosome 13q|13q deletion|deletion 13q|13q monosomy|monosomy 13q|partial deletion of chromosome 13q|chromosome 13q deletion	http://purl.obolibrary.org/obo/MONDO_0016911	A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 13.	NCIT:C36497|MESH:C535449|ORPHA:262101
MONDO:0016912	partial deletion of the long arm of chromosome 14	biolink:Disease	mondo	ICD10:Q93.5|GARD:0003722|Orphanet:262110	gard_rare|ordo_group_of_disorders	14q deletion|partial monosomy of chromosome 14q|partial monosomy of the long arm of chromosome 14|14q monosomy|deletion 14q|monosomy 14q|chromosome 14q deletion|partial monosomy 14q|partial deletion of chromosome 14q|partial deletion of the long arm of chromosome type 14	http://purl.obolibrary.org/obo/MONDO_0016912	Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14.	ORPHA:262110
MONDO:0016913	partial deletion of the long arm of chromosome 15	biolink:Disease	mondo	GARD:0001746|ICD10:Q93.5|MESH:C538038|Orphanet:262119	ordo_group_of_disorders	15q deletion|15q monosomy|partial deletion of the long arm of chromosome type 15|partial deletion of chromosome 15q|deletion 15q|partial monosomy of the long arm of chromosome 15|chromosome 15q deletion|partial monosomy of chromosome 15q|monosomy 15q|partial monosomy 15q	http://purl.obolibrary.org/obo/MONDO_0016913		MESH:C538038|ORPHA:262119
MONDO:0016914	partial deletion of the long arm of chromosome 16	biolink:Disease	mondo	Orphanet:262128|ICD10:Q93.5	ordo_group_of_disorders	partial deletion of the long arm of chromosome type 16|partial deletion of chromosome 16q|partial monosomy of the long arm of chromosome 16|partial monosomy of chromosome 16q	http://purl.obolibrary.org/obo/MONDO_0016914		ORPHA:262128
CHEBI:38716	carboxylic acid dianion	biolink:ChemicalSubstance	mondo			carboxylic acid dianions|carboxylic acid dianion	http://purl.obolibrary.org/obo/CHEBI_38716	Any dianion containing at least one carboxy group.	
MONDO:0016910	partial deletion of the long arm of chromosome 11	biolink:Disease	mondo	UMLS:CN035778|MESH:C538296|GARD:0001735|NCIT:C37312|GTR:AN0100480|ICD10:Q93.5|GTR:AN0100479|GTR:AN0100478|Orphanet:262092	gard_rare|ordo_group_of_disorders	partial deletion of chromosome 11q|deletion 11q|monosomy 11q partial|11q deletion|loss of chromosome 11q|del(11q)|partial monosomy of chromosome 11q|monosomy 11q|chromosome 11q partial deletion|partial monosomy 11q|11q monosomy|partial deletion of the long arm of chromosome type 11|Deletion 11q partial|partial monosomy of the long arm of chromosome 11|chromosome 11q deletion	http://purl.obolibrary.org/obo/MONDO_0016910	A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 11.	MESH:C538296|ORPHA:262092|NCIT:C37312|UMLS:CN035778
UBERON:0001567	cheek	biolink:AnatomicalEntity	mondo			buccae|jowl	http://purl.obolibrary.org/obo/UBERON_0001567	A fleshy subdivision of one side of the face bounded by an eye, ear and the nose.	
MONDO:0004937	hypervitaminosis D	biolink:Disease	mondo	DOID:9971|ICD9:278.4|ICD10:E67.3|SCTID:27712000|UMLS:C1442839|COHD:435522		hypervitaminosis type D	http://purl.obolibrary.org/obo/MONDO_0004937		DOID:9971|UMLS:C1442839|SNOMEDCT:27712000
CHEBI:26738	sphingenine	biolink:ChemicalSubstance	mondo			sphingenines	http://purl.obolibrary.org/obo/CHEBI_26738	A 2-aminooctadecene-1,3-diol having (2S,3R)-configuration.	
HGNC:8487	ORC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8487		
MONDO:0004936	uterine inversion	biolink:Disease	mondo	EFO:1001446|ICD10:N85.5|MESH:D019687|ICD9:665.2|DOID:997|SCTID:27215002			http://purl.obolibrary.org/obo/MONDO_0004936	A complication of obstetric labor in which the corpus of the uterus is forced completely or partially through the uterine cervix. This can occur during the late stages of labor and is associated with immediate postpartum hemorrhage.	SNOMEDCT:27215002|DOID:997|MESH:D019687
UBERON:0001560	neck of organ	biolink:AnatomicalEntity	mondo			organ neck	http://purl.obolibrary.org/obo/UBERON_0001560		
CHEBI:26739	sphingolipid	biolink:ChemicalSubstance	mondo			sphingolipids	http://purl.obolibrary.org/obo/CHEBI_26739	Sphingolipids are a complex family of compounds that share a common structural feature, a sphingoid base backbone.	
MONDO:0004939	hallucinogen dependence	biolink:Disease	mondo	ICD9:304.5|ICD9:304.50|DOID:9977|ICD10:F16.2|NCIT:C34657|SCTID:38247002			http://purl.obolibrary.org/obo/MONDO_0004939	A drug dependence for a hallucinogenic substance.	SNOMEDCT:38247002|DOID:9977|NCIT:C34657
HP:0008386	Aplasia/Hypoplasia of the nails	biolink:PhenotypicFeature	mondo	UMLS:C1859077		Nail aplasia/hypoplasia|Absent/hypoplastic nails|Absent/small nails|Absent/underdeveloped nails	http://purl.obolibrary.org/obo/HP_0008386	Aplasia or developmental hypoplasia of the nail.	
MONDO:0004938	substance dependence	biolink:Disease	mondo	ICD9:304.60|NCIT:C35458|SCTID:2403008|DOID:9973		dependence	http://purl.obolibrary.org/obo/MONDO_0004938	The psychological or physiological need to take a substance in oder to experience its effects or to avoid the effects of its absence.	DOID:9973|NCIT:C35458|SNOMEDCT:2403008
HP:0011927	Short digit	biolink:PhenotypicFeature	mondo	UMLS:C1860176|UMLS:C4023124		Very short digits|Short digit	http://purl.obolibrary.org/obo/HP_0011927	One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened.	
CHEBI:48154	sulfur oxide	biolink:ChemicalSubstance	mondo			Schwefeloxide|sulfur oxides|oxides of sulfur	http://purl.obolibrary.org/obo/CHEBI_48154		
NCBITaxon:1457286	Dorylaimia	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1457286		
UBERON:0001507	biceps brachii	biolink:AnatomicalEntity	mondo			biceps cubiti|biceps brachii muscle|biceps brachii %26 brachialis muscles|biceps|musculus biceps brachii|biceps muscle	http://purl.obolibrary.org/obo/UBERON_0001507	A muscle in the forelimb stylopod which in humans has several functions, the most important being to rotate the forearm and to flex the elbow. [WP,unvetted].	
UBERON:0001509	triceps brachii	biolink:AnatomicalEntity	mondo			musculus triceps brachii|triceps muscle|triceps brachii muscle|triceps	http://purl.obolibrary.org/obo/UBERON_0001509	The triceps brachii muscle (Latin for 'three-headed' muscle of the arm, it is called a three headed muscle because there are three bundles of muscle, each of different origin, joining together at the elbow) is the large muscle on the back of the human upper limb. It is the muscle principally responsible for extension of the elbow joint (i.e. straightening of the arm). Though a similarly-named muscle, the triceps surae, is found on the lower leg, the triceps brachii is commonly called simply the 'triceps'. [WP,unvetted].	
UBERON:0001508	arch of aorta	biolink:AnatomicalEntity	mondo			aortic arch|arcus aortae|thoracic aorta	http://purl.obolibrary.org/obo/UBERON_0001508	the convex portion of the aorta between the ascending and descending parts of the aorta; branches from it include the brachiocephalic trunk, the left common carotid artery, and the left subclavian artery; the brachiocephalic trunk further splits to form the right subclavian artery and the right common carotid artery	
HP:0011974	Myelofibrosis	biolink:PhenotypicFeature	mondo	UMLS:C0026987|SNOMEDCT_US:52967002			http://purl.obolibrary.org/obo/HP_0011974	Replacement of bone marrow by fibrous tissue.	
NCBITaxon:83158	Sarcoptoidea	organism taxon	mondo	GC_ID:1		Psoroptoidea|Listrophoroidea	http://purl.obolibrary.org/obo/NCBITaxon_83158		
UBERON:0001510	skin of knee	biolink:AnatomicalEntity	mondo			knee zone of skin|zone of skin of knee|knee skin	http://purl.obolibrary.org/obo/UBERON_0001510	A zone of skin that is part of a knee [Automatically generated definition].	
UBERON:0001512	skin of ankle	biolink:AnatomicalEntity	mondo			ankle skin|tarsal region skin|zone of skin of ankle|ankle zone of skin	http://purl.obolibrary.org/obo/UBERON_0001512	A zone of skin that is part of an ankle [Automatically generated definition].	
UBERON:0001511	skin of leg	biolink:AnatomicalEntity	mondo			leg zone of skin|zone of skin of leg|leg skin	http://purl.obolibrary.org/obo/UBERON_0001511	A zone of skin that is part of a leg [Automatically generated definition].	
NCBITaxon:83145	Eleutherengona	organism taxon	mondo	GC_ID:1		Eleutherengonides	http://purl.obolibrary.org/obo/NCBITaxon_83145		
HP:0011962	Obstructive azoospermia	biolink:PhenotypicFeature	mondo	UMLS:C4023106			http://purl.obolibrary.org/obo/HP_0011962	Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.	
NCBITaxon:83141	Parasitengona	organism taxon	mondo	GC_ID:1		velvet mites|Parasitengonae	http://purl.obolibrary.org/obo/NCBITaxon_83141		
UBERON:0001500	muscle of manus	biolink:AnatomicalEntity	mondo			manus muscle organ|manus muscle|muscle of hand|hand muscle|muscle organ of manus	http://purl.obolibrary.org/obo/UBERON_0001500	Any muscle organ that is part of a manus [Automatically generated definition].	
HP:0008321	Reduced factor X activity	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:76642003|UMLS:C4024702|MSH:D005171|UMLS:C0015519		Decreased factor x activity|Factor X deficiency	http://purl.obolibrary.org/obo/HP_0008321	Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa).	
HP:0011947	Respiratory tract infection	biolink:PhenotypicFeature	mondo	UMLS:C0035243|MSH:D012141|SNOMEDCT_US:275498002		Respiratory tract infection|Respiratory infections|Respiratory infection	http://purl.obolibrary.org/obo/HP_0011947	An infection of the upper or lower respiratory tract.	
CHEBI:36132	alicyclic ketone	biolink:ChemicalSubstance	mondo			alicyclic ketones|alicyclic ketone	http://purl.obolibrary.org/obo/CHEBI_36132	A cyclic ketone in which the carbocyclic ring structure which may be saturated or unsaturated, but may not be a benzenoid or other aromatic system.	
GO:0048585	negative regulation of response to stimulus	biolink:OntologyClass	mondo			downregulation of response to stimulus|down regulation of response to stimulus|inhibition of response to stimulus|down-regulation of response to stimulus	http://purl.obolibrary.org/obo/GO_0048585	Any process that stops, prevents, or reduces the frequency, rate or extent of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus.	
GO:0048584	positive regulation of response to stimulus	biolink:OntologyClass	mondo			stimulation of response to stimulus|up-regulation of response to stimulus|activation of response to stimulus|upregulation of response to stimulus|up regulation of response to stimulus	http://purl.obolibrary.org/obo/GO_0048584	Any process that activates, maintains or increases the rate of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus.	
GO:0048583	regulation of response to stimulus	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0048583	Any process that modulates the frequency, rate or extent of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus.	
GO:0061564	axon development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0061564	The progression of an axon over time. Covers axonogenesis (de novo generation of an axon) and axon regeneration (regrowth), as well as processes pertaining to the progression of the axon over time (fasciculation and defasciculation).	
PO:0025497	collective plant structure	biolink:OntologyClass	mondo	PO_GIT:479		estructura vegetal colectiva (Spanish, exact)|集合的植物構造 (Japanese, exact)	http://purl.obolibrary.org/obo/PO_0025497	A plant structure (PO:0009011) that is a proper part of a whole plant (PO:0000003) and includes two or more adjacent plant organs (PO:0009008) or adjacent cardinal organ parts (PO:0025001), along with any associated portions of plant tissue (PO:0009007).	
PO:0025496	multi-tissue plant structure	biolink:OntologyClass	mondo	PO_GIT:480		estructura vegetal con m&#250ltiples tejidos (Spanish, exact)|複数の組織からなる植物構造 (Japanese, exact)	http://purl.obolibrary.org/obo/PO_0025496	A plant structure (PO:0009011) that has as parts two or more portions of plant tissue (PO:0009007) of at least two different types and which through specific morphogenetic processes forms a single structural unit demarcated by primarily bona-fide boundaries from other structural units of different types.	
GO:0048593	camera-type eye morphogenesis	biolink:OntologyClass	mondo			camera-style eye morphogenesis	http://purl.obolibrary.org/obo/GO_0048593	The process in which the anatomical structures of the eye are generated and organized. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field.	
MONDO:0014390	hypotrichosis 13	biolink:Disease	mondo	DOID:0110710|UMLS:C4014616|OMIM:615896		hypotrichosis caused by mutation in KRT71|hypotrichosis 13|HYPT13|hypotrichosis 13; HYPT13|hypt13|hypotrichosis type 13|hypotrichosis with woolly hair|KRT71 hypotrichosis	http://purl.obolibrary.org/obo/MONDO_0014390	Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene.	UMLS:C4014616|DOID:0110710|http://identifiers.org/omim/615896
GO:0048592	eye morphogenesis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0048592	The process in which the anatomical structures of the eye are generated and organized.	
NCBITaxon:12845	Swine influenza virus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_12845		
GO:1903999	negative regulation of eating behavior	biolink:OntologyClass	mondo			down regulation of eating behaviour|down regulation of eating behavior|inhibition of eating behaviour|down-regulation of eating behaviour|negative regulation of eating behaviour|inhibition of eating behavior|downregulation of eating behavior|downregulation of eating behaviour|down-regulation of eating behavior	http://purl.obolibrary.org/obo/GO_1903999	Any process that stops, prevents or reduces the frequency, rate or extent of eating behavior.	
GO:1903998	regulation of eating behavior	biolink:OntologyClass	mondo			regulation of eating behaviour	http://purl.obolibrary.org/obo/GO_1903998	Any process that modulates the frequency, rate or extent of eating behavior.	
GO:0048598	embryonic morphogenesis	biolink:OntologyClass	mondo			embryonic anatomical structure morphogenesis	http://purl.obolibrary.org/obo/GO_0048598	The process in which anatomical structures are generated and organized during the embryonic phase. The embryonic phase begins with zygote formation. The end of the embryonic phase is organism-specific. For example, it would be at birth for mammals, larval hatching for insects and seed dormancy in plants.	
MONDO:0014399	PCNA-related progressive neurodegenerative photosensitivy syndrome	biolink:Disease	mondo	OMIM:615919|ICD10:G11.3|Orphanet:438134|UMLS:C4014676	ordo_disease	ataxia-telangiectasia-like disorder 2; ATLD2|PCNA-related progressive neurodegenerative photosensitivity syndrome|ataxia-telangiectasia-like disorder 2|ATLD2|ataxia-telangiectasia-like disorder type 2	http://purl.obolibrary.org/obo/MONDO_0014399		UMLS:C4014676|http://identifiers.org/omim/615919|ORPHA:438134
SO:0000704	gene	biolink:SequenceFeature	mondo			INSDC_feature:gene	http://purl.obolibrary.org/obo/SO_0000704	A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions.	
MONDO:0014394	Diamond-Blackfan anemia 13	biolink:Disease	mondo	OMIM:615909|UMLS:C4014641		Diamond-Blackfan Anemia type 13|Diamond-Blackfan anemia 13|Diamond-Blackfan anemia 13; DBA13|RPS29 Diamond-Blackfan anemia|DBA13|Diamond-Blackfan anemia caused by mutation in RPS29	http://purl.obolibrary.org/obo/MONDO_0014394	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS29 gene.	UMLS:C4014641|http://identifiers.org/omim/615909
MONDO:0014393	lymphedema, hereditary, 1D	biolink:Disease	mondo	UMLS:C4014628|DOID:0070209|OMIM:615907		lymphedema, hereditary, ID; LMPH1D|LMPH1D|VEGFC hereditary lymphedema|lymphedema, hereditary, ID|hereditary lymphedema caused by mutation in VEGFC|lymphedema, hereditary, type 1D	http://purl.obolibrary.org/obo/MONDO_0014393	Any hereditary lymphedema in which the cause of the disease is a mutation in the VEGFC gene.	UMLS:C4014628|DOID:0070209|http://identifiers.org/omim/615907
MONDO:0014392	developmental and epileptic encephalopathy, 25	biolink:Disease	mondo	OMIM:615905|GARD:0012901|UMLS:C4014621|DOID:0080453	gard_rare	DEE25|SLC13A5 deficiency|early infantile epileptic encephalopathy 25|SLC13A5 early infantile epileptic encephalopathy|EIEE25|early infantile epileptic encephalopathy caused by mutation in SLC13A5|epileptic encephalopathy, early infantile, 25; EIEE25|epileptic encephalopathy, early infantile, 25|epileptic encephalopathy, early infantile, type 25	http://purl.obolibrary.org/obo/MONDO_0014392	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC13A5 gene.	UMLS:C4014621|http://identifiers.org/omim/615905|DOID:0080453
GO:0097529	myeloid leukocyte migration	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0097529	The movement of a myeloid leukocyte within or between different tissues and organs of the body.	
MONDO:0014391	severe combined immunodeficiency due to CTPS1 deficiency	biolink:Disease	mondo	SCTID:763623001|UMLS:C4014617|Orphanet:420573|ICD10:D81.2|OMIM:615897	ordo_disease	immunodeficiency 24; IMD24|IMD24|immunodeficiency type 24|SCID due to CTPS1 deficiency|immunodeficiency 24	http://purl.obolibrary.org/obo/MONDO_0014391	Severe combined immunodeficiency (SCID) due to CTPS1 deficiency is a rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV), (including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.	SNOMEDCT:763623001|UMLS:C4014617|ORPHA:420573|http://identifiers.org/omim/615897
MONDO:0014398	combined oxidative phosphorylation defect type 21	biolink:Disease	mondo	ICD10:E88.8|OMIM:615918|DOID:0111465|UMLS:C4014668|SCTID:763211004|EFO:0009032|Orphanet:420733	ordo_disease	combined oxidative phosphorylation deficiency 21|COXPD21|TARS2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency type 21|combined oxidative phosphorylation deficiency caused by mutation in TARS2|combined oxidative phosphorylation deficiency 21; COXPD21	http://purl.obolibrary.org/obo/MONDO_0014398	Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.	DOID:0111465|UMLS:C4014668|ORPHA:420733|SNOMEDCT:763211004|http://identifiers.org/omim/615918
MONDO:0014397	combined oxidative phosphorylation defect type 20	biolink:Disease	mondo	UMLS:C4014660|OMIM:615917|Orphanet:420728|DOID:0111478|ICD10:G31.8	ordo_disease	combined oxidative phosphorylation deficiency 20|COXPD20|VARS2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in VARS2|combined oxidative phosphorylation deficiency type 20|combined oxidative phosphorylation deficiency 20; COXPD20	http://purl.obolibrary.org/obo/MONDO_0014397	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the VARS2 gene.	DOID:0111478|UMLS:C4014660|ORPHA:420728|http://identifiers.org/omim/615917
MONDO:0014396	dilated cardiomyopathy 1NN	biolink:Disease	mondo	DOID:0110432|ICD10:I42.0|UMLS:C4014656|OMIM:615916		CMD1NN|cardiomyopathy, dilated, type 1Nn|familial isolated dilated cardiomyopathy caused by mutation in RAF1|cardiomyopathy, dilated, 1NN; CMD1NN|cardiomyopathy, dilated, 1NN|RAF1 familial isolated dilated cardiomyopathy|dilated cardiomyopathy type 1NN	http://purl.obolibrary.org/obo/MONDO_0014396	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RAF1 gene.	UMLS:C4014656|DOID:0110432|http://identifiers.org/omim/615916
MONDO:0014395	FTDALS2	biolink:Disease	mondo	UMLS:C4014648|OMIM:615911|DOID:0060214		frontotemporal dementia and/or amyotrophic lateral sclerosis type 2|FTDALS2|frontotemporal dementia and/or amyotrophic lateral sclerosis 2|frontotemporal dementia and/or amyotrophic lateral sclerosis 2; FTDALS2	http://purl.obolibrary.org/obo/MONDO_0014395	An amyotrophic lateral sclerosis that has material basis in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.	UMLS:C4014648|DOID:0060214|http://identifiers.org/omim/615911
MONDO:0002398	mucinous adenofibroma	biolink:Disease	mondo	DOID:2700|ICDO:9015/0|NCIT:C8978|UMLS:C0334499		mucinous adenofibroma	http://purl.obolibrary.org/obo/MONDO_0002398	A benign adenofibroma characterized by the presence of epithelial cells which contain intracytoplasmic mucin and a fibrotic stroma. A representative example is the ovarian mucinous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline mucinous adenofibromas and have a low grade malignant potential.	NCIT:C8978|DOID:2700|UMLS:C0334499
MONDO:0002399	tenosynovial giant cell tumor, localized type	biolink:Disease	mondo	DOID:2701|ICD9:727.02|NCIT:C6532|SCTID:95413004|COHD:436200|UMLS:C0588125		tenosynovial giant cell tumor, localized type|localized tenosynovial giant cell neoplasm|localized giant cell tumor of tendon sheath|benign tumor of synovium|synovioma, benign (morphologic abnormality)|localized giant cell tumor of Tenosynovium|localized giant cell neoplasm of Tenosynovium|localized giant cell neoplasm of the Tenosynovium|localized giant cell neoplasm of tendon sheath|synovioma, benign|localized tenosynovial giant cell tumor|localized giant cell tumor of the Tenosynovium|nodular tenosynovitis|benign synovioma	http://purl.obolibrary.org/obo/MONDO_0002399	A well-circumscribed, lobulated tumor, completely or partially covered by a fibrous capsule. It usually arises in the fingers. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. The tumor is slow-growing, usually developing over several years. Clinical presentation includes painless edema of the affected site.	SNOMEDCT:95413004|DOID:2701|NCIT:C6532|UMLS:C0588125
MONDO:0002394	obsolete Leydig cell tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002394		
MONDO:0002395	renal adenoma	biolink:Disease	mondo	UMLS:C0334684|DOID:2697|NCIT:C8383		renal tubule adenoma|renal adenoma|renal cell adenoma|kidney adenoma|renal cell adenoma (morphologic abnormality)|adenoma, renal cell, benign	http://purl.obolibrary.org/obo/MONDO_0002395	An adenoma arising from the renal cortex.	NCIT:C8383|DOID:2697|UMLS:C0334684
MONDO:0002396	nephrogenic adenofibroma	biolink:Disease	mondo	DOID:2698|ICDO:8965/0|NCIT:C39812|UMLS:C1266141		metanephric adenofibroma	http://purl.obolibrary.org/obo/MONDO_0002396	A benign, solitary, and partially cystic neoplasm arising from the kidney. It occurs in children and adults. Presenting symptoms include hematuria and polycythemia. It is characterized by the presence of epithelial nodules embedded in a stroma containing spindle cells.	UMLS:C1266141|DOID:2698|NCIT:C39812
MONDO:0002397	liver sarcoma	biolink:Disease	mondo	SCTID:254601002|DOID:270|UMLS:C0345906|NCIT:C4437		sarcoma of liver|sarcoma of the liver|hepatic sarcoma|liver sarcoma	http://purl.obolibrary.org/obo/MONDO_0002397	A malignant soft tissue neoplasm that arises from the liver. Representative examples include angiosarcoma, undifferentiated (embryonal) sarcoma, rhabdomyosarcoma, and leiomyosarcoma.	UMLS:C0345906|DOID:270|NCIT:C4437|SNOMEDCT:254601002
GO:1901343	negative regulation of vasculature development	biolink:OntologyClass	mondo			down-regulation of vascular system development|negative regulation of vascular system development|down regulation of vascular system development|down-regulation of vasculature development|downregulation of vascular system development|down regulation of vasculature development|inhibition of vasculature development|inhibition of vascular system development|downregulation of vasculature development	http://purl.obolibrary.org/obo/GO_1901343	Any process that stops, prevents or reduces the frequency, rate or extent of vasculature development.	
MONDO:0002390	obsolete ossifying fibromyxoid tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002390		
MONDO:0002391	obsolete skin sarcoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002391		
MONDO:0002392	obsolete lymphangiosarcoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002392		
MONDO:0002393		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002393		
GO:1901342	regulation of vasculature development	biolink:OntologyClass	mondo			regulation of vascular system development	http://purl.obolibrary.org/obo/GO_1901342	Any process that modulates the frequency, rate or extent of vasculature development.	
MONDO:0014389	polyglucosan body myopathy 1 with or without immunodeficiency	biolink:Disease	mondo	OMIM:615895|UMLS:C4014605		PGBM1|polyglucosan body myopathy 1 with or without immunodeficiency|polyglucosan body myopathy, early-onset, with or without immunodeficiency|polyglucosan body myopathy 1 with or without immunodeficiency; PGBM1	http://purl.obolibrary.org/obo/MONDO_0014389		UMLS:C4014605|http://identifiers.org/omim/615895
MONDO:0014388	familial median cleft of the upper and lower lips	biolink:Disease	mondo	Orphanet:401942|OMIM:615892|ICD10:Q36.1	ordo_malformation_syndrome	OFC14|orofacial cleft 14|orofacial cleft 14; OFC14	http://purl.obolibrary.org/obo/MONDO_0014388	Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family.	http://identifiers.org/omim/615892|ORPHA:401942
MONDO:0014383	myopathy, tubular aggregate, 2	biolink:Disease	mondo	OMIM:615883|UMLS:C4014557		ORAI1 tubular aggregate myopathy|myopathy, tubular aggregate, 2; TAM2|tubular aggregate myopathy caused by mutation in ORAI1|myopathy, tubular aggregate, type 2|myopathy, tubular aggregate, 2|TAM2	http://purl.obolibrary.org/obo/MONDO_0014383	Any tubular aggregate myopathy in which the cause of the disease is a mutation in the ORAI1 gene.	UMLS:C4014557|http://identifiers.org/omim/615883
MONDO:0014382	tall stature-intellectual disability-facial dysmorphism syndrome	biolink:Disease	mondo	Orphanet:404443|ICD10:Q87.3|SCTID:768843007|OMIM:615879|UMLS:C4014545	ordo_malformation_syndrome	TBRS|DNMT3A-related overgrowth syndrome|TATTON-BROWN-Rahman syndrome|Tatton-Brown-Rahman overgrowth syndrome|TATTON-BROWN-Rahman syndrome; TBRS	http://purl.obolibrary.org/obo/MONDO_0014382		UMLS:C4014545|ORPHA:404443|http://identifiers.org/omim/615879|SNOMEDCT:768843007
SO:0000733	feature_attribute	biolink:SequenceFeature	mondo			feature attribute	http://purl.obolibrary.org/obo/SO_0000733	An attribute describing a located_sequence_feature.	
MONDO:0014381	cholestasis, progressive familial intrahepatic, 4	biolink:Disease	mondo	GARD:0009803|UMLS:C2931067|OMIM:615878|UMLS:CN776838|Orphanet:480483|DOID:0070224	ordo_clinical_subtype	cholestasis, progressive familial intrahepatic, 4; PFIC4|TJP2 deficit|cholestasis, progressive familial intrahepatic, 4|progressive familial intrahepatic cholestasis 4|cholestasis, progressive familial intrahepatic, type 4|cholestasis, progressive familial intrahepatic 4|TJP2 progressive familial intrahepatic cholestasis|progressive familial intrahepatic cholestasis caused by mutation in TJP2|PFIC4|progressive familial intrahepatic cholestasis type 4	http://purl.obolibrary.org/obo/MONDO_0014381	Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the TJP2 gene.	ORPHA:480483|UMLS:C2931067|UMLS:CN776838|DOID:0070224|http://identifiers.org/omim/615878
MONDO:0014380	colobomatous microphthalmia-rhizomelic dysplasia syndrome	biolink:Disease	mondo	UMLS:C4014540|Orphanet:424099|OMIM:615877|ICD10:Q87.5	ordo_malformation_syndrome	microphthalmia, syndromic 14; MCOPS14|microphthalmia or coloboma with or without rhizomelic skeletal dysplasia|microphthalmia, syndromic type 14|microphthalmia/coloboma and skeletal dysplasia syndrome; MCSKS|microphthalmia/coloboma and skeletal dysplasia syndrome|MCOPS14|microphthalmia, syndromic 14|microphthalmia-coloboma-rhizomelic skeletal dysplasia|microphthalmia and coloboma, with or without rhizomelic skeletal dysplasia|MCSKS	http://purl.obolibrary.org/obo/MONDO_0014380	Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.	UMLS:C4014540|http://identifiers.org/omim/615877|ORPHA:424099
MONDO:0014387	leukoencephalopathy, progressive, with ovarian failure	biolink:Disease	mondo	UMLS:C4014588|OMIM:615889		LKENP|leukoencephalopathy, progressive, with ovarian failure|leukoencephalopathy, progressive, with ovarian failure; LKENP	http://purl.obolibrary.org/obo/MONDO_0014387		UMLS:C4014588|http://identifiers.org/omim/615889
MONDO:0014386	platelet-type bleeding disorder 18	biolink:Disease	mondo	DOID:0111051|ICD10:D69.1|UMLS:C4014584|Orphanet:420566|OMIM:615888	ordo_disease	bleeding disorder, platelet-type, 18; BDPLT18|bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency|RASGRP2 inherited bleeding disorder, platelet-type|BDPLT18|inherited bleeding disorder, platelet-type caused by mutation in RASGRP2|bleeding disorder due to CalDAG-GEFI deficiency|bleeding disorder, platelet-type, 18	http://purl.obolibrary.org/obo/MONDO_0014386	Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.	DOID:0111051|UMLS:C4014584|ORPHA:420566|http://identifiers.org/omim/615888
MONDO:0014385	amelogenesis imperfecta hypomaturation type 2A5	biolink:Disease	mondo	ICD10:K00.5|OMIM:615887|DOID:0110063|UMLS:C4014578		amelogenesis imperfecta type IIA5|amelogenesis imperfecta hypomaturation type IIA5|amelogenesis imperfecta, hypomaturation type, IIA5|AI2A5|SLC24A4 amelogenesis imperfecta|amelogenesis imperfecta, hypomaturation type, IIA5; AI2A5|amelogenesis imperfecta caused by mutation in SLC24A4	http://purl.obolibrary.org/obo/MONDO_0014385	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the SLC24A4 gene.	DOID:0110063|UMLS:C4014578|http://identifiers.org/omim/615887
MONDO:0014384	hypotrichosis 12	biolink:Disease	mondo	UMLS:C4014563|OMIM:615885|DOID:0110709		hypotrichosis 12|hypt12|HYPT12|hypotrichosis type 12|hypotrichosis 12; HYPT12|RPL21 hypotrichosis|hypotrichosis caused by mutation in RPL21	http://purl.obolibrary.org/obo/MONDO_0014384	Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene.	UMLS:C4014563|DOID:0110709|http://identifiers.org/omim/615885
GO:1901361	organic cyclic compound catabolic process	biolink:OntologyClass	mondo			organic cyclic compound breakdown|organic cyclic compound degradation|organic cyclic compound catabolism	http://purl.obolibrary.org/obo/GO_1901361	The chemical reactions and pathways resulting in the breakdown of organic cyclic compound.	
GO:1901362	organic cyclic compound biosynthetic process	biolink:OntologyClass	mondo			organic cyclic compound synthesis|organic cyclic compound biosynthesis|organic cyclic compound formation|organic cyclic compound anabolism	http://purl.obolibrary.org/obo/GO_1901362	The chemical reactions and pathways resulting in the formation of organic cyclic compound.	
MONDO:0014379	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	biolink:Disease	mondo	OMIM:615873|GARD:0012931|DOID:0070058|SCTID:766824003|Orphanet:404448|UMLS:C4014538|ICD10:Q87.0	ordo_malformation_syndrome	MRD28|Helsmoortel-VAN DER AA syndrome; HVDAS|autosomal dominant intellectual disability 28|ADNP syndrome|autosomal dominant mental retardation 28|Helsmoortel-VAN DER AA syndrome|intellectual disability, autosomal dominant 28|mental retardation, autosomal dominant 28|HVDAS	http://purl.obolibrary.org/obo/MONDO_0014379	An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13.	SNOMEDCT:766824003|UMLS:C4014538|ORPHA:404448|DOID:0070058|http://identifiers.org/omim/615873
MONDO:0014378	primary ciliary dyskinesia 29	biolink:Disease	mondo	UMLS:C4014534|OMIM:615872|DOID:0110600|ICD10:Q34.8		CILD29|ciliary dyskinesia, primary, 29, without situs inversus|ciliary dyskinesia, primary, type 29|primary ciliary dyskinesia type 29|ciliary dyskinesia, primary, 29|CCNO primary ciliary dyskinesia|ciliary dyskinesia, primary, 29; CILD29|primary ciliary dyskinesia 29 without situs inversus|primary ciliary dyskinesia caused by mutation in CCNO	http://purl.obolibrary.org/obo/MONDO_0014378	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCNO gene.	UMLS:C4014534|DOID:0110600|http://identifiers.org/omim/615872
CL:0001200	lymphocyte of B lineage, CD19-positive	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0001200	A lymphocyte of B lineage that is CD19-positive.	
MONDO:0014377	developmental and epileptic encephalopathy, 24	biolink:Disease	mondo	UMLS:C4014531|OMIM:615871|DOID:0080429		epileptic encephalopathy, early infantile, 24; EIEE24|DEE24|epileptic encephalopathy, early infantile, 24|epileptic encephalopathy, early infantile, type 24|HCN1 early infantile epileptic encephalopathy|EIEE24|early infantile epileptic encephalopathy caused by mutation in HCN1	http://purl.obolibrary.org/obo/MONDO_0014377	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the HCN1 gene.	DOID:0080429|UMLS:C4014531|http://identifiers.org/omim/615871
GO:1901360	organic cyclic compound metabolic process	biolink:OntologyClass	mondo			organic cyclic compound metabolism	http://purl.obolibrary.org/obo/GO_1901360	The chemical reactions and pathways involving organic cyclic compound.	
CL:0001201	B cell, CD19-positive	biolink:Cell	mondo			CD19-positive B cell|B-lymphocyte, CD19-positive|CD19+ B cell|B lymphocyte, CD19-positive|B-cell, CD19-positive	http://purl.obolibrary.org/obo/CL_0001201	A B cell that is CD19-positive.	
MONDO:0014372	cone-rod dystrophy 19	biolink:Disease	mondo	OMIM:615860|DOID:0111025|UMLS:C4014501		TTLL5 cone-rod dystrophy|CORD19|cone-rod dystrophy type 19|cone-rod dystrophy 19|cone-rod dystrophy caused by mutation in TTLL5|cone-rod dystrophy 19; CORD19	http://purl.obolibrary.org/obo/MONDO_0014372	Any cone-rod dystrophy in which the cause of the disease is a mutation in the TTLL5 gene.	DOID:0111025|UMLS:C4014501|http://identifiers.org/omim/615860
MONDO:0014371	developmental and epileptic encephalopathy, 23	biolink:Disease	mondo	ICD10:G40.4|UMLS:C4014492|OMIM:615859|DOID:0080415|Orphanet:411986	ordo_malformation_syndrome	DEE18|early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome|epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome|EIEE23|epileptic encephalopathy, early infantile, 23|epileptic encephalopathy, early infantile, 23; EIEE23|epileptic encephalopathy, early infantile, type 23	http://purl.obolibrary.org/obo/MONDO_0014371		DOID:0080415|ORPHA:411986|UMLS:C4014492|http://identifiers.org/omim/615859
MONDO:0014370	pontocerebellar hypoplasia type 2E	biolink:Disease	mondo	OMIM:615851|DOID:0060271|UMLS:C4014488		PCH2E|pontocerebellar hypoplasia, type 2E; PCH2E|VPS53 non-syndromic pontocerebellar hypoplasia|pontocerebellar hypoplasia, type 2E|non-syndromic pontocerebellar hypoplasia caused by mutation in VPS53	http://purl.obolibrary.org/obo/MONDO_0014370	Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene.	UMLS:C4014488|DOID:0060271|http://identifiers.org/omim/615851
MONDO:0014376	intellectual disability, autosomal dominant 27	biolink:Disease	mondo	DOID:0070057|UMLS:C4014528|OMIM:615866		mental retardation, autosomal dominant type 27|intellectual disability, autosomal dominant 27|intellectual disability, autosomal dominant 27; MRD27|autosomal dominant intellectual disability 27|autosomal dominant non-syndromic intellectual disability 27|autosomal dominant mental retardation 27|intellectual disability, autosomal dominant type 27|mental retardation, autosomal dominant 27|MRD27|mental retardation, autosomal dominant 27; MRD27	http://purl.obolibrary.org/obo/MONDO_0014376		UMLS:C4014528|DOID:0070057|http://identifiers.org/omim/615866
MONDO:0014375	congenital diarrhea 7 with exudative enteropathy	biolink:Disease	mondo	Orphanet:329242|ICD10:P78.3|OMIM:615863|UMLS:C4014516|DOID:0060778	ordo_disease	diarrhea 7|DGAT1 congenital diarrhea|diarrhea type 7|congenital chronic diarrhea with protein-losing enteropathy|congenital diarrhea caused by mutation in DGAT1|diarrhea 7; DIAR7|DIAR7|congenital chronic diarrhea with exudative enteropathy	http://purl.obolibrary.org/obo/MONDO_0014375	Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.	ORPHA:329242|UMLS:C4014516|DOID:0060778|http://identifiers.org/omim/615863
MONDO:0014374	nephronophthisis 18	biolink:Disease	mondo	UMLS:C3890591|OMIM:615862|DOID:0111125		nephronophthisis (disease) caused by mutation in CEP83|NPHP18|nephronophthisis type 18|nephronophthisis 18; NPHP18|CEP83 nephronophthisis (disease)|nephronophthisis 18	http://purl.obolibrary.org/obo/MONDO_0014374	Any nephronophthisis in which the cause of the disease is a mutation in the CEP83 gene.	DOID:0111125|UMLS:C3890591|http://identifiers.org/omim/615862
GO:0097503	sialylation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0097503	The covalent attachment of sialic acid to a substrate molecule.	
MONDO:0014373	nephrotic syndrome, type 10	biolink:Disease	mondo	DOID:0080386|OMIM:615861|UMLS:C4014507		EMP2 nephrotic syndrome|nephrotic syndrome, type 10; NPHS10|NPHS10|nephrotic syndrome, type 10|nephrotic syndrome caused by mutation in EMP2	http://purl.obolibrary.org/obo/MONDO_0014373	Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene.	DOID:0080386|UMLS:C4014507|http://identifiers.org/omim/615861
GO:1901363	heterocyclic compound binding	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1901363	Interacting selectively and non-covalently with heterocyclic compound.	
NCBITaxon:12870	Variola major virus	organism taxon	mondo	GC_ID:1		variola major virus VAR	http://purl.obolibrary.org/obo/NCBITaxon_12870		
HGNC:23198	CYP4V2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23198		
NCBITaxon:36831	Clostridium botulinum F	organism taxon	mondo	GC_ID:11|PMID:8863443			http://purl.obolibrary.org/obo/NCBITaxon_36831		
NCBITaxon:36830	Clostridium botulinum E	organism taxon	mondo	GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_36830		
GO:0097530	granulocyte migration	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0097530	The movement of a granulocyte within or between different tissues and organs of the body.	
NCBITaxon:1648037	Poodae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1648037		
HGNC:23168	FANCM	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23168		
NCBITaxon:1648038	Triticodae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1648038		
HGNC:11180	SOD2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11180		
CHEBI:36093	inorganic chloride	biolink:ChemicalSubstance	mondo			inorganic chloride salt|inorganic chlorides|inorganic chloride salts	http://purl.obolibrary.org/obo/CHEBI_36093		
HGNC:23162	ALG10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23162		
NCBITaxon:1648030	Triticinae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1648030		
HGNC:23161	ALG8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23161		
HGNC:23166	PNPT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23166		
MONDO:0041996	thallium poisoning	biolink:Disease	mondo	SCTID:51040009		thallium poisoning	http://purl.obolibrary.org/obo/MONDO_0041996		SNOMEDCT:51040009
NCBITaxon:36827	Clostridium botulinum B	organism taxon	mondo	PMID:8863443|GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_36827		
NCBITaxon:36826	Clostridium botulinum A	organism taxon	mondo	PMID:8863443|GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_36826		
HGNC:11183	SON	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11183		
HGNC:11188	SOS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11188		
HGNC:11187	SOS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11187		
HGNC:11185	SORL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11185		
HGNC:11191	SOX11	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11191		
HGNC:11190	SOX10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11190		
HGNC:11195	SOX2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11195		
HGNC:11194	SOX18	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11194		
HGNC:11199	SOX3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11199		
MONDO:0002336	inflammatory and toxic neuropathy	biolink:Disease	mondo	ICD9:357.7|DOID:2537|COHD:378140|ICD9:357|ICD9:357.9|SCTID:267601009|ICD9:357.8			http://purl.obolibrary.org/obo/MONDO_0002336		DOID:2537|SNOMEDCT:267601009
MONDO:0004999	obsolete chondrosarcoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004999		
MONDO:0002337	intra-abdominal hemangioma	biolink:Disease	mondo	ICD10:D18.03|ICD9:228.04|UMLS:C0154052|DOID:254|COHD:197239|NCIT:C3635|SCTID:189197001		hemangioma of intra-abdominal structure|hemangioma of intra-abdominal structures|intra-abdominal hemangioma|hemangioma, intra-abdominal|abdominal cavity hemangioma|hemangioma of abdominal cavity	http://purl.obolibrary.org/obo/MONDO_0002337	A hemangioma arising from organs within the abdominal cavity.	UMLS:C0154052|SNOMEDCT:189197001|NCIT:C3635|DOID:254
MONDO:0004998	obsolete chondromyxoid fibroma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004998		
MONDO:0002338	extratemporal epilepsy	biolink:Disease	mondo	SCTID:111498005|ICD9:345.80|NCIT:C7760|DOID:2544|UMLS:C0270849		extratemporal epilepsy	http://purl.obolibrary.org/obo/MONDO_0002338	An epilepsy syndrome that is located in an area of the brain other than the temporal lobe.	DOID:2544|NCIT:C7760|SNOMEDCT:111498005|UMLS:C0270849
NCBITaxon:10255	Variola virus	organism taxon	mondo	GC_ID:1		small pox virus|variola virus VAR|smallpox virus|smallpox	http://purl.obolibrary.org/obo/NCBITaxon_10255		
HGNC:23147	UNC13D	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23147		
MONDO:0002339	obsolete hemangioma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002339		
MONDO:0002332	splenic disease	biolink:Disease	mondo	DOID:2529|ICD10:D73|EFO:0009002|NCIT:C35823|ICD9:289.50|SCTID:51244008|UMLS:C0037997|MESH:D013158|ICD10:D73.9		splenic disorder|spleen disease or disorder|disorder of spleen|spleen disease|spleen disorder|disease of spleen|disease or disorder of spleen|disorder of spleen|splenic disease|Dyssplenism	http://purl.obolibrary.org/obo/MONDO_0002332	A disease involving the spleen.	DOID:2529|MESH:D013158|NCIT:C35823|SNOMEDCT:51244008|UMLS:C0037997
MONDO:0004995	cardiovascular disease	biolink:Disease	mondo	SCTID:49601007|ICD9:429.81|MESH:D002318|NCIT:C2931|EFO:0000319|ICD9:423.8|ICD9:390-459.99|ICD9:429|ICD9:429.89|UMLS:C0007222|ICD9:459.9|ICD9:424|ICD9:423|ICD10:I00.I99|ICD9:429.8|ICD9:420-429.99|DOID:1287|ICD9:429.2|ICD9:459.89|ICD9:429.7		cardiovascular disorder|disease of subdivision of hemolymphoid system|cardiovascular disease (CVD)|disorder of cardiovascular system|cardiovascular disease|cardiovascular system disease|disease or disorder of cardiovascular system|circulatory system disease|disease of cardiovascular system|disorder of cardiovascular system|cardiovascular system disease or disorder	http://purl.obolibrary.org/obo/MONDO_0004995	A disease involving the cardiovascular system.	DOID:1287|MESH:D002318|NCIT:C2931|SNOMEDCT:49601007|UMLS:C0007222
NCBITaxon:10257	Parapoxvirus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_10257		
MONDO:0004994	cardiomyopathy	biolink:Disease	mondo	ICD10:I42.9|MESH:D009202|EFO:0000318|SCTID:85898001|ICD10:I42|GARD:0011958|ICD9:425|Orphanet:167848|MedDRA:10007636|ICD10:I51.5|COHD:321319|UMLS:C0878544|NCIT:C34830|ICD9:425.9|DOID:0050700|ICD9:425.4	ordo_group_of_disorders	Cardiomyopathies|cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0004994	A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive.	UMLS:C0878544|SNOMEDCT:85898001|ORPHA:167848|MESH:D009202|MEDDRA:10007636|DOID:0050700|NCIT:C34830
NCBITaxon:10258	Orf virus	organism taxon	mondo	GC_ID:1		Contagious pustular dermatitis virus	http://purl.obolibrary.org/obo/NCBITaxon_10258		
MONDO:0002333	splenic abscess (disease)	biolink:Disease	mondo	HP:0025059|NCIT:C35347|ICD9:289.59|SCTID:82053000|UMLS:C0272412|ICD10:D73.3|DOID:2530		splenic abscess	http://purl.obolibrary.org/obo/MONDO_0002333	An abscess that is located in the spleen.	DOID:2530|SNOMEDCT:82053000|UMLS:C0272412|NCIT:C35347
MONDO:0004997	chondroblastoma (disease)	biolink:Disease	mondo	DOID:2649|ONCOTREE:CHBL|NCIT:C2945|MESH:D002804|GARD:0006047|UMLS:C0008441|EFO:0000331|HP:0030432|ICDO:9230/0		chondroblastoma|chondroblastoma of bone|CHBL	http://purl.obolibrary.org/obo/MONDO_0004997	A benign, chondroid-producing, well-circumscribed, lytic neoplasm usually arising from the epiphysis of long bones. It is characterized by the presence of chondroblasts, osteoclast-like giant cells, chondroid formation, calcification, and mitotic activity. In aggressive cases, there is rearrangement of the 8q21 chromosome band. It occurs most frequently in children and young adults and rarely metastasizes.	DOID:2649|MESH:D002804|NCIT:C2945|UMLS:C0008441
MONDO:0002334	hematopoietic and lymphoid system neoplasm	biolink:Disease	mondo	UMLS:C1512393|UMLS:C0376544|SCTID:129154003|NCIT:C35813|UMLS:C0376545|MESH:D019337|DOID:2531		hematopoietic neoplasm|blood cancer|hematologic malignancy|neoplasm of blood|hematopoietic cancer|blood tumor|hematopoietic and lymphoid system tumor|neoplasm of hematopoietic system|hematopoietic system tumor|hematopoietic tumors|malignant hematopoietic neoplasm (morphologic abnormality)|blood neoplasm (disease)|hematologic cancer|malignant hematopoietic neoplasm|tumor of blood|hematological tumors|hematologic neoplasm|tumor of hematopoietic system|hematopoietic neoplasm (morphologic abnormality)|hematopoietic and lymphoid system neoplasm|hematopoietic system neoplasm	http://purl.obolibrary.org/obo/MONDO_0002334	Neoplasms of the hematopoietic system, including hematopoietic cell neoplasms (e.g. leukemias, lymphomas) and non-hematopoietic cell neoplasms that can affect the hematopoietic system (e.g. lymph node and splenic sarcomas). --2003	MESH:D019337|DOID:2531|UMLS:C0376544|UMLS:C0376545|SNOMEDCT:129154003|NCIT:C35813|UMLS:C1512393
MONDO:0004996	childhood acute myeloid leukemia	biolink:Disease	mondo	UMLS:C0220621|NCIT:C9160|ICDO:M9861/3|DOID:0070323|EFO:0000330		childhood acute myeloblastic leukemia|acute myeloid leukemia (AML)|pediatric acute myeloid leukemia|childhood acute granulocytic leukemia|pediatric acute myelogenous leukemia|acute myeloid leukemia of childhood|paediatric acute myeloid leukaemia|childhood acute myelocytic leukemia|pediatric AML|pediatric acute myeloid leukemia|pediatric acute myeloblastic leukemia|childhood acute myeloid leukemia|childhood acute myelogenous leukemia|childhood acute myeloid leukaemia|childhood AML|pediatric acute myelocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0004996	Acute myeloid leukemia occurring in childhood.	UMLS:C0220621|DOID:0070323|NCIT:C9160
MONDO:0002335	chronic inflammatory demyelinating polyneuritis	biolink:Disease	mondo	ICD10:G61.81|ICD9:357.81|NCIT:C84636|DOID:2536|SCTID:444728005		chronic inflammatory demyelinating polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0002335	An immunologic inflammatory disorder characterized by loss of myelin in the peripheral nerves. Patients present with progressive weakness and loss of sensory function in the legs and arms.	DOID:2536|NCIT:C84636|SNOMEDCT:444728005
MONDO:0004991	minimally invasive lung adenocarcinoma	biolink:Disease	mondo	EFO:0000308|ICD9:162.9|DOID:4926|NCIT:C2923|MESH:D002282|SCTID:373627005|ICDO:8251/3|ICDO:8250/3		bronchiolo-alveolar lung carcinoma|minimally invasive lung adenocarcinoma|bronchioalveolar lung carcinoma|bronchioalveolar adenocarcinoma of lung|bac|bronchiolo-alveolar adenocarcinoma|bronchioalveolar adenocarcinoma of the lung|carcinoma, bronchioloalveolar, malignant|bronchiolo-alveolar carcinoma of lung|bronchioloalveolar adenocarcinoma of lung|bronchiolo-alveolar carcinoma of the lung|bronchioloalveolar adenocarcinoma of the lung|bronchioloalveolar lung adenocarcinoma|bronchioloalveolar carcinoma	http://purl.obolibrary.org/obo/MONDO_0004991	A solitary adenocarcinoma arising from the lung measuring 3 cm or less. It is characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension. It is usually a non-mucinous adenocarcinoma, but rarely may be mucinous.	SNOMEDCT:373627005|MESH:D002282|NCIT:C2923|DOID:4926
MONDO:0004990	breast tumor luminal A or B	biolink:Disease	mondo	DOID:0060548|EFO:0000306		breast tumor luminal|luminal breast cancer|luminal breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0004990	Subsets of breast carcinoma defined by expression of genes characteristic of luminal epithelial cells.	DOID:0060548
HGNC:23141	TRMT5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23141		
MONDO:0002330	alcoholic psychosis	biolink:Disease	mondo	ICD9:291.89|EFO:1001260|MESH:D011604|DOID:252|ICD9:291.9|ICD9:291.8|SCTID:42344001		alcoholic psychoses	http://purl.obolibrary.org/obo/MONDO_0002330	A group of mental disorders associated with organic brain damage and caused by poisoning from alcohol.	DOID:252|SNOMEDCT:42344001|MESH:D011604
MONDO:0004993	carcinoma	biolink:Disease	mondo	NCIT:C2916|DOID:305|UMLS:C0007097|EFO:0000313|SCTID:722688002|ICDO:8011/3|ICDO:8010/3|MESH:D002277|CSP:2000-1867		malignant epithelioma|carcinoma, malignant|malignant epithelial neoplasm|malignant epithelial tumor|epithelial carcinoma|epithelioma|epithelioma malignant|carcinoma, NOS|carcinoma|Other carcinoma	http://purl.obolibrary.org/obo/MONDO_0004993	A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas. Morphologically, the malignant epithelial cells may display abnormal mitotic figures, anaplasia, and necrosis. Carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Carcinomas invade the surrounding tissues and tend to metastasize to other anatomic sites. Lung carcinoma, skin carcinoma, breast carcinoma, colon carcinoma, and prostate carcinoma are the most frequently seen carcinomas.	MESH:D002277|NCIT:C2916|DOID:305|UMLS:C0007097|SNOMEDCT:722688002
MONDO:0004992	cancer	biolink:Disease	mondo	DOID:162|ICD9:195.8|NCIT:C9305|ICD10:C80.1|COHD:443392|ICD9:199.1|ICD10:C80|SCTID:363346000|ONCOTREE:MT|EFO:0000311|DOID:0050687|NIFSTD:birnlex_406|ICD9:199|DOID:0050686|GARD:0011960|UMLS:C0006826|ICDO:8000/3		cancer|malignant tumor|primary cancer|malignancy|cell type cancer|malignant neoplasm|MT|malignant Growth|organ system cancer|CA|malignant neoplastic disease|neoplasm, malignant|malignant neoplasm (disease)|neoplasm (disease), malignant	http://purl.obolibrary.org/obo/MONDO_0004992	A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas.	UMLS:C0006826|SNOMEDCT:363346000|DOID:162|NCIT:C9305|DOID:0050686|DOID:0050687
MONDO:0002331	nephrosis	biolink:Disease	mondo	MESH:D009401|DOID:2527|UMLS:C0027720		Nephroses	http://purl.obolibrary.org/obo/MONDO_0002331	Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA.	DOID:2527|UMLS:C0027720|MESH:D009401
MONDO:0014319	renal hypodysplasia/aplasia 2	biolink:Disease	mondo	OMIM:615721|UMLS:C3810359		renal hypodysplasia/aplasia 2; RHDA2|renal hypodysplasia/aplasia 2|renal hypodysplasia/aplasia type 2|RHDA2|FGF20 renal agenesis (disease)|renal agenesis (disease) caused by mutation in FGF20	http://purl.obolibrary.org/obo/MONDO_0014319	Any renal agenesis in which the cause of the disease is a mutation in the FGF20 gene.	UMLS:C3810359|http://identifiers.org/omim/615721
HGNC:23143	SYT14	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23143		
MONDO:0014325	pachyonychia congenita 4	biolink:Disease	mondo	UMLS:C3714949|OMIM:615728		pachyonychia congenita caused by mutation in KRT6B|pachyonychia congenita type 4|pachyonychia congenita 4|KRT6B pachyonychia congenita|pachyonychia congenita 4; PC4|PC4	http://purl.obolibrary.org/obo/MONDO_0014325	Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6B gene.	http://identifiers.org/omim/615728|UMLS:C3714949
MONDO:0016988	hyperinsulinism due to HNF4A deficiency	biolink:Disease	mondo	ICD10:E16.1|SCTID:717048002|UMLS:C4274078|Orphanet:263455	ordo_disease	hyperinsulinemic hypoglycemia due to HNF4A deficiency	http://purl.obolibrary.org/obo/MONDO_0016988	Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1).	ORPHA:263455|UMLS:C4274078|SNOMEDCT:717048002
MONDO:0014324	pachyonychia congenita 3	biolink:Disease	mondo	UMLS:C3714948|OMIM:615726		pachyonychia congenita caused by mutation in KRT6A|PC3|pachyonychia congenita 3|KRT6A pachyonychia congenita|pachyonychia congenita 3; PC3|pachyonychia congenita type 3	http://purl.obolibrary.org/obo/MONDO_0014324	Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6A gene.	http://identifiers.org/omim/615726|UMLS:C3714948
MONDO:0016989	Fuchs heterochromic iridocyclitis	biolink:Disease	mondo	ICD10:H20.8|GARD:0006791|MedDRA:10017406|Orphanet:263479	ordo_disease	Fuchs heterochromic cyclitis|FHI|Fuchs heterochromic uveitis	http://purl.obolibrary.org/obo/MONDO_0016989	Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities.	ORPHA:263479|UMLS:C0016782|MEDDRA:10017406
MONDO:0014323	retinitis pigmentosa 68	biolink:Disease	mondo	UMLS:C3810380|ICD10:H35.5|DOID:0110374|OMIM:615725		SLC7A14 retinitis pigmentosa|retinitis pigmentosa 68; RP68|retinitis pigmentosa caused by mutation in SLC7A14|RP68|retinitis pigmentosa 68|retinitis pigmentosa type 68	http://purl.obolibrary.org/obo/MONDO_0014323	Any retinitis pigmentosa in which the cause of the disease is a mutation in the SLC7A14 gene.	http://identifiers.org/omim/615725|UMLS:C3810380|DOID:0110374
MONDO:0014322	premature ovarian failure 9	biolink:Disease	mondo	UMLS:C3810376|OMIM:615724		premature ovarian failure 9; Pof9|HFM1 primary ovarian failure|Pof9|premature ovarian failure 9|primary ovarian failure caused by mutation in HFM1|premature ovarian failure type 9	http://purl.obolibrary.org/obo/MONDO_0014322	Any primary ovarian failure in which the cause of the disease is a mutation in the HFM1 gene.	http://identifiers.org/omim/615724|UMLS:C3810376
HGNC:11167	SNTA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11167		
MONDO:0014329	atrial standstill 2	biolink:Disease	mondo	UMLS:C3810401|OMIM:615745		atrial standstill type 2|atrial standstill caused by mutation in NPPA|atrial standstill 2; ATRST2|NPPA atrial standstill|ATRST2|atrial dilation and standstill|cardiomyopathy, atrial dilated, with atrial standstill|atrial standstill 2	http://purl.obolibrary.org/obo/MONDO_0014329	Any atrial standstill in which the cause of the disease is a mutation in the NPPA gene.	http://identifiers.org/omim/615745|UMLS:C3810401
MONDO:0016984	nevus of Ota	biolink:Disease	mondo	SCTID:414929001|Orphanet:263425|ICD9:224.0|MESH:D009507|ICD10:D22.3|UMLS:C0027961|NCIT:C7583|MedDRA:10051713|EFO:1000396	ordo_disease	oculocutaneous melanocytic Nevus|oculodermal melanocytosis|Ota's Nevus|Nevus fusculoceruleus ophthalmomaxillaris	http://purl.obolibrary.org/obo/MONDO_0016984	Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito or nevus spilus.	SNOMEDCT:414929001|ORPHA:263425|UMLS:C0027961|MESH:D009507|MEDDRA:10051713|NCIT:C7583
MONDO:0016985	nevus of Ito	biolink:Disease	mondo	GARD:0010830|UMLS:C0022283|Orphanet:263432|NCIT:C7582|EFO:1000395|UMLS:CN202288|ICD10:D22.6	ordo_disease	nevi of Ito|Nevus fuscocaeruleus acromiodeltoideus|Ito's Nevus|hypomelanosis of Ito	http://purl.obolibrary.org/obo/MONDO_0016985	Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and may in rare occasions occur together with the latter.	UMLS:C0022283|ORPHA:263432|UMLS:CN202288|NCIT:C7582
MONDO:0014328	developmental and epileptic encephalopathy, 19	biolink:Disease	mondo	NCIT:C142802|UMLS:C3810400|DOID:0080431|OMIM:615744		epileptic encephalopathy, early infantile, type 19|DEE19|epileptic encephalopathy, early infantile, 19; EIEE19|EIEE19|Early Infantile epileptic encephalopathy 19|early infantile epileptic encephalopathy caused by mutation in GABRA1|GABRA1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 19	http://purl.obolibrary.org/obo/MONDO_0014328	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRA1 gene.	NCIT:C142802|UMLS:C3810400|http://identifiers.org/omim/615744|DOID:0080431
MONDO:0016986	congenital smooth muscle hamartoma	biolink:Disease	mondo	Orphanet:263435|ICD9:759.6|UMLS:C0406819|SCTID:239144007	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016986	Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibres of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported.	SNOMEDCT:239144007|ORPHA:263435|UMLS:C0406819
MONDO:0014327	autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering	biolink:Disease	mondo	ICD10:Q82.8|OMIM:615735|Orphanet:402003|UMLS:C3810394	ordo_disease	palmoplantar keratoderma, nonepidermolytic, focal or diffuse; PPKNEFD|PPKNEFD|palmoplantar keratoderma, nonepidermolytic, focal or diffuse	http://purl.obolibrary.org/obo/MONDO_0014327		ORPHA:402003|http://identifiers.org/omim/615735|UMLS:C3810394
MONDO:0014326	nemaline myopathy 9	biolink:Disease	mondo	OMIM:615731|DOID:0110929|UMLS:C3810384		nemaline myopathy 9; NEM9|nemaline myopathy caused by mutation in KLHL41|nemaline myopathy type 9|nemaline myopathy 9|KLHL41 nemaline myopathy|NEM9	http://purl.obolibrary.org/obo/MONDO_0014326	Any nemaline myopathy in which the cause of the disease is a mutation in the KLHL41 gene.	DOID:0110929|UMLS:C3810384|http://identifiers.org/omim/615731
MONDO:0016987	neuroacanthocytosis	biolink:Disease	mondo	NCIT:C84926|DOID:0050765|Orphanet:263440|GARD:0010902	ordo_group_of_disorders	neuroacanthocytosis syndrome	http://purl.obolibrary.org/obo/MONDO_0016987	Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia.	ORPHA:263440|NCIT:C84926|DOID:0050765
MONDO:0016980	ATR-X-related syndrome	biolink:Disease	mondo	UMLS:CN202282|Orphanet:263355	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016980		UMLS:CN202282|ORPHA:263355
MONDO:0016981	infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome	biolink:Disease	mondo	Orphanet:263410|UMLS:CN202284	ordo_disease	infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome	http://purl.obolibrary.org/obo/MONDO_0016981		ORPHA:263410|UMLS:CN202284
HGNC:11161	SNRPE	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11161		
MONDO:0016982	angiosarcoma (disease)	biolink:Disease	mondo	HP:0200058|EFO:0003968|ICD9:171.9|EFO:0003967|Orphanet:263413|ONCOTREE:ANGS|MedDRA:10002476|MESH:D006394|ICD10:C49.9|DOID:0001816|UMLS:C0018923|ICDO:9120/3|NCIT:C3088|SCTID:403977003	ordo_disease	vascular sarcoma|malignant hemangioendothelioma|malignant angioendothelioma|hemangiosarcoma, malignant|angiosarcoma|hemangiosarcoma|blood vessel sarcoma|sarcoma of blood vessel	http://purl.obolibrary.org/obo/MONDO_0016982	A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma.	MEDDRA:10002476|ORPHA:263413|UMLS:C0018923|DOID:0001816|NCIT:C3088|SNOMEDCT:403977003|MESH:D006394
MONDO:0016983	Bartter syndrome with hypocalcemia	biolink:Disease	mondo	Orphanet:263417|UMLS:C3715128|ICD10:E26.8	ordo_clinical_subtype	Bartter syndrome type V|Bartter syndrome type 5	http://purl.obolibrary.org/obo/MONDO_0016983	Bartter syndrome with hypocalcemia is a type of Bartter syndrome characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH)	ORPHA:263417|UMLS:C3715128
MONDO:0002329	testicular disease	biolink:Disease	mondo	NCIT:C26890|DOID:2519|ICD9:608.89|MESH:D013733|SCTID:64910008|UMLS:C0039584		testicular disease|disease of testis|disorder of testis|disease or disorder of testis|testicular disorder|testis disease|testis disorder|disorder of testis|testis disease or disorder	http://purl.obolibrary.org/obo/MONDO_0002329	A non-neoplastic or neoplastic disorder affecting the testis. Representative examples include torsion, infarction, germ cell tumor, sex cord-stromal tumor, lymphoma, and leukemia.	MESH:D013733|DOID:2519|NCIT:C26890|SNOMEDCT:64910008|UMLS:C0039584
MONDO:0014321	premature ovarian failure 8	biolink:Disease	mondo	UMLS:C3810367|OMIM:615723		POF8|premature ovarian failure 8; POF8|STAG3 primary ovarian failure|premature ovarian failure 8|premature ovarian failure type 8|primary ovarian failure caused by mutation in STAG3	http://purl.obolibrary.org/obo/MONDO_0014321	Any primary ovarian failure in which the cause of the disease is a mutation in the STAG3 gene.	UMLS:C3810367|http://identifiers.org/omim/615723
MONDO:0014320	optic atrophy-intellectual disability syndrome	biolink:Disease	mondo	Orphanet:401777|OMIM:615722|UMLS:C3810363|ICD10:H47.2	ordo_disease	BOSCH-Boonstra-Schaaf optic atrophy syndrome|BBSOAS|BOSCH-Boonstra-Schaaf optic atrophy syndrome; BBSOAS	http://purl.obolibrary.org/obo/MONDO_0014320	Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.	UMLS:C3810363|http://identifiers.org/omim/615722|ORPHA:401777
HGNC:11164	SNRPN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11164		
CHEBI:26708	sodium atom	biolink:ChemicalSubstance	mondo			sodium|11Na|Na|natrium|Natrium|sodio|sodium	http://purl.obolibrary.org/obo/CHEBI_26708		
MONDO:0002347	barbiturate dependence	biolink:Disease	mondo	DOID:2575|ICD9:304.11|ICD9:304.13|SCTID:231472009			http://purl.obolibrary.org/obo/MONDO_0002347	A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance.	DOID:2575|SNOMEDCT:231472009
CHEBI:26712	sodium molecular entity	biolink:ChemicalSubstance	mondo			sodium compounds|sodium molecular entities	http://purl.obolibrary.org/obo/CHEBI_26712		
HGNC:23159	ALG2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23159		
MONDO:0002348	obsolete chondrodysplasia punctata	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002348		
CHEBI:26714	sodium salt	biolink:ChemicalSubstance	mondo			sodium salts|Natriumsalz|Natriumsalze	http://purl.obolibrary.org/obo/CHEBI_26714	Any alkali metal salt having sodium(1+) as the cation.	
HGNC:23157	ALG6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23157		
MONDO:0002349	obsolete agammaglobulinemia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002349		
MONDO:0002343	splenic hemangioma	biolink:Disease	mondo	DOID:256|UMLS:C0685201|SCTID:93472004|NCIT:C8541		angioma of the spleen|hemangioma of the spleen|splenic hemangioma|splenic angioma|spleen angioma|spleen hemangioma|angioma of spleen|hemangioma of spleen	http://purl.obolibrary.org/obo/MONDO_0002343	A hemangioma arising from the spleen.	DOID:256|UMLS:C0685201|SNOMEDCT:93472004|NCIT:C8541
MONDO:0002344	obsolete corneal dystrophy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002344		
CHEBI:26710	sodium chloride	biolink:ChemicalSubstance	mondo			Kochsalz|Natriumchlorid|rock salt|natrii chloridum|NaCl|sodium chloride|common salt|table salt|cloruro sodico|halite|salt|chlorure de sodium	http://purl.obolibrary.org/obo/CHEBI_26710	An inorganic chloride salt having sodium(1+) as the counterion.	
MONDO:0002345	cervicitis (disease)	biolink:Disease	mondo	ICD9:616.0|MESH:D002575|HP:0030160|DOID:2568|ICD10:N72|SCTID:37610005|NCIT:C26716		cervicitis	http://purl.obolibrary.org/obo/MONDO_0002345	An acute or chronic inflammatory process that affects the cervix. Causes include sexually transmitted diseases and bacterial infections. Clinical manifestations include abnormal vaginal bleeding and vaginal discharge.	DOID:2568|NCIT:C26716|MESH:D002575|SNOMEDCT:37610005
MONDO:0002346	obsolete malignant histiocytic disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002346		
HGNC:23151	FERMT3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23151		
MONDO:0002340	tactile epilepsy	biolink:Disease	mondo	UMLS:C0393724|SCTID:230449001|NCIT:C4687|DOID:2550			http://purl.obolibrary.org/obo/MONDO_0002340		NCIT:C4687|UMLS:C0393724|SNOMEDCT:230449001|DOID:2550
GO:0048515	spermatid differentiation	biolink:OntologyClass	mondo			spermatid cell differentiation	http://purl.obolibrary.org/obo/GO_0048515	The process whose specific outcome is the progression of a spermatid over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell.	
MONDO:0002341	granulomatous angiitis	biolink:Disease	mondo	UMLS:C0018202|DOID:2555|NCIT:C34653		Granulomatous arteritis	http://purl.obolibrary.org/obo/MONDO_0002341	Inflammation of the arteries that is characterized by the presence of granulomas.	NCIT:C34653|UMLS:C0018202|DOID:2555
MONDO:0014309	obesity due to CEP19 deficiency	biolink:Disease	mondo	Orphanet:397615|ICD10:E66.8|OMIM:615703|UMLS:C3810324	ordo_disease	morbid obesity and spermatogenic failure|MOSPGF|morbid obesity and spermatogenic failure; MOSPGF	http://purl.obolibrary.org/obo/MONDO_0014309		ORPHA:397615|http://identifiers.org/omim/615703|UMLS:C3810324
GO:0048514	blood vessel morphogenesis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0048514	The process in which the anatomical structures of blood vessels are generated and organized. The blood vessel is the vasculature carrying blood.	
MONDO:0002342	chondromalacia	biolink:Disease	mondo	ICD9:733.92|COHD:438531|UMLS:C0085700|DOID:2557|SCTID:63198006|ICD10:M94.20|ICD10:M94.2			http://purl.obolibrary.org/obo/MONDO_0002342	Pathological processes involving the chondral tissue (cartilage).	UMLS:C0085700|SNOMEDCT:63198006|DOID:2557
MONDO:0014308	familial temporal lobe epilepsy 6	biolink:Disease	mondo	OMIM:615697|DOID:0060749|UMLS:C3810320		epilepsy, familial temporal lobe, 6|ETL6|epilepsy, familial temporal lobe, 6; ETL6|familial temporal lobe epilepsy type 6	http://purl.obolibrary.org/obo/MONDO_0014308	A temporal lobe epilepsy that has material basis in variation in the chromosome region 3q25-q26.	DOID:0060749|http://identifiers.org/omim/615697|UMLS:C3810320
GO:0048513	animal organ development	biolink:OntologyClass	mondo			development of an organ|organogenesis	http://purl.obolibrary.org/obo/GO_0048513	Development of a tissue or tissues that work together to perform a specific function or functions. Development pertains to the process whose specific outcome is the progression of a structure over time, from its formation to the mature structure. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions.	
GO:0048512	circadian behavior	biolink:OntologyClass	mondo			circadian rhythm behavior	http://purl.obolibrary.org/obo/GO_0048512	The specific behavior of an organism that recurs with a regularity of approximately 24 hours.	
GO:0048511	rhythmic process	biolink:OntologyClass	mondo			rhythm	http://purl.obolibrary.org/obo/GO_0048511	Any process pertinent to the generation and maintenance of rhythms in the physiology of an organism.	
MONDO:0014314	sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome	biolink:Disease	mondo	ICD10:Q87.5|OMIM:615709|UMLS:C3810343|Orphanet:397927	ordo_malformation_syndrome	SAVA|sacral agenesis with vertebral anomalies; SAVA|sacral agenesis with vertebral anomalies	http://purl.obolibrary.org/obo/MONDO_0014314		ORPHA:397927|UMLS:C3810343|http://identifiers.org/omim/615709
MONDO:0016977	moderately-differentiated thymic neuroendocrine carcinoma	biolink:Disease	mondo	ICD10:C37|Orphanet:263335|UMLS:CN202279	ordo_histopathological_subtype		http://purl.obolibrary.org/obo/MONDO_0016977		ORPHA:263335|UMLS:CN202279
HGNC:35126	BHLHA9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/35126		
NCBITaxon:1933264	California encephalitis orthobunyavirus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1933264		
MONDO:0014313	autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity	biolink:Disease	mondo	OMIM:615707|Orphanet:437552|ICD10:D84.8|UMLS:C3810342	ordo_disease	IMD20|CD16 deficiency|immunodeficiency type 20|immunodeficiency 20|autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity|immunodeficiency 20; IMD20	http://purl.obolibrary.org/obo/MONDO_0014313		UMLS:C3810342|http://identifiers.org/omim/615707|ORPHA:437552
MONDO:0016978	poorly differentiated thymic neuroendocrine carcinoma	biolink:Disease	mondo	ICD10:C37|Orphanet:263339|UMLS:CN202280|SCTID:717921000	ordo_histopathological_subtype		http://purl.obolibrary.org/obo/MONDO_0016978		SNOMEDCT:717921000|ORPHA:263339|UMLS:CN202280
MONDO:0016979	MRCS syndrome	biolink:Disease	mondo	Orphanet:263347	ordo_disease	microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome	http://purl.obolibrary.org/obo/MONDO_0016979	MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400.	ORPHA:263347
MONDO:0014312	auriculocondylar syndrome 3	biolink:Disease	mondo	OMIM:615706|UMLS:C3810332		Auriculocondylar syndrome type 3|ARCND3|AURICULOCONDYLAR syndrome 3; ARCND3|Auriculocondylar syndrome 3	http://purl.obolibrary.org/obo/MONDO_0014312		UMLS:C3810332|http://identifiers.org/omim/615706
HGNC:11179	SOD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11179		
MONDO:0014311	autosomal recessive spinocerebellar ataxia 15	biolink:Disease	mondo	OMIM:615705|UMLS:C3810326|ICD10:G11.1|DOID:0080057|Orphanet:404499	ordo_disease	autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to KIAA0226 deficiency|RUBCN autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome|SCAR15|Salih ataxia|spinocerebellar ataxia, autosomal recessive type 15|RUBCN autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome|autosomal recessive spinocerebellar ataxia type 15|autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency|spinocerebellar ataxia, autosomal recessive 15|spinocerebellar ataxia, autosomal recessive 15; SCAR15|autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in RUBCN|autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in RUBCN	http://purl.obolibrary.org/obo/MONDO_0014311	Any autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome in which the cause of the disease is a mutation in the RUBCN gene.	ORPHA:404499|UMLS:C3810326|http://identifiers.org/omim/615705|DOID:0080057
MONDO:0014318	hyperphosphatasia with intellectual disability syndrome 4	biolink:Disease	mondo	OMIM:615716|UMLS:C3810354		hyperphosphatasia with intellectual disability syndrome type 4|hyperphosphatasia with mental retardation syndrome type 4|hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP3|HPMRS4|hyperphosphatasia with mental retardation syndrome 4; HPMRS4|hyperphosphatasia with intellectual disability syndrome 4; HPMRS4|hyperphosphatasia with mental retardation syndrome 4|PGAP3 hyperphosphatasia-intellectual disability syndrome|hyperphosphatasia with intellectual disability syndrome 4|glycosylphosphatidylinositol biosynthesis defect 10	http://purl.obolibrary.org/obo/MONDO_0014318	Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP3 gene.	UMLS:C3810354|http://identifiers.org/omim/615716
MONDO:0016973	obsolete thymoma type A	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016973		
MONDO:0016974	thymoma type B	biolink:Disease	mondo	NCIT:C7114|ICD10:C37|UMLS:C1328042|Orphanet:263317|DOID:3282|ICD10:D15.0|UMLS:CN202276	ordo_histopathological_subtype	Dendritic cell thymoma|primary thymic epithelial tumor type B|epithelioid thymoma|dendritic cell thymoma|dendritic cell thymoma (disease)|primary thymic epithelial neoplasm type B|thymoma type B|plump cell thymoma	http://purl.obolibrary.org/obo/MONDO_0016974	An epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It includes thymoma type B1 which is a thymoma of low grade malignant potential, thymoma type B2 which is a thymoma of moderate malignancy, and thymoma type B3 which is also known as well differentiated thymic carcinoma.	ORPHA:263317|UMLS:CN202276|UMLS:C1328042|DOID:3282|NCIT:C7114
MONDO:0014317	pancytopenia-developmental delay syndrome	biolink:Disease	mondo	UMLS:C3810350|OMIM:615715|ICD10:D61.0|Orphanet:401764	ordo_disease	bone marrow failure syndrome 2|bone marrow failure syndrome type 2|bone marrow failure syndrome 2; BMFS2|BMFS2|Trilineage bone marrow failure-developmental delay syndrome	http://purl.obolibrary.org/obo/MONDO_0014317		http://identifiers.org/omim/615715|UMLS:C3810350|ORPHA:401764
GO:0048519	negative regulation of biological process	biolink:OntologyClass	mondo			downregulation of biological process|negative regulation of physiological process|down regulation of biological process|inhibition of biological process|down-regulation of biological process	http://purl.obolibrary.org/obo/GO_0048519	Any process that stops, prevents, or reduces the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule.	
MONDO:0016975	thymoma type AB	biolink:Disease	mondo	ICD10:D15.0|ICDO:8582/1|DOID:3280|ICD10:C37|Orphanet:263324|NCIT:C6885|UMLS:C1266092|EFO:1000582	ordo_histopathological_subtype	primary thymic epithelial neoplasm type AB|primary thymic epithelial tumor type AB|thymoma type AB|thymoma, mixed type|mixed type thymoma	http://purl.obolibrary.org/obo/MONDO_0016975	A thymic epithelial neoplasm characterized by the presence of a lymphocyte-poor component similar to that seen in type A thymoma and a lymphocyte-rich component which contains neoplastic small polygonal epithelial cells. It may be associated with myasthenia gravis and pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II or stage III tumors. The overall survival is reported to be 80-100% at 5 and 10 years.	NCIT:C6885|ORPHA:263324|UMLS:C1266092|DOID:3280
GO:0048518	positive regulation of biological process	biolink:OntologyClass	mondo			positive regulation of physiological process|up-regulation of biological process|activation of biological process|upregulation of biological process|up regulation of biological process|stimulation of biological process	http://purl.obolibrary.org/obo/GO_0048518	Any process that activates or increases the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule.	
MONDO:0014316	Alzheimer disease 19	biolink:Disease	mondo	UMLS:C3810349|OMIM:615711|DOID:0110051		Alzheimer disease 19|Alzheimer's disease type 19|Alzheimer disease caused by mutation in PLD3|Alzheimer disease type 19|Alzheimer disease 19, late-onset|Alzheimer disease 19; AD19|Alzheimer disease 19 late onset|AD19|Alzheimer's disease 19|PLD3 Alzheimer disease	http://purl.obolibrary.org/obo/MONDO_0014316	Any Alzheimer disease in which the cause of the disease is a mutation in the PLD3 gene.	DOID:0110051|http://identifiers.org/omim/615711|UMLS:C3810349
MONDO:0016976	well-differentiated thymic neuroendocrine carcinoma	biolink:Disease	mondo	ICD10:C37|SCTID:717922007|UMLS:CN202278|Orphanet:263331	ordo_histopathological_subtype		http://purl.obolibrary.org/obo/MONDO_0016976		SNOMEDCT:717922007|ORPHA:263331|UMLS:CN202278
MONDO:0014315	Mitchell-Riley syndrome	biolink:Disease	mondo	OMIM:615710		diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia|Mitchell-RILEY syndrome; MTCHRS|Mitchell-Riley syndrome|MTCHRS	http://purl.obolibrary.org/obo/MONDO_0014315		http://identifiers.org/omim/615710
MONDO:0016970	partial trisomy of the long arm of chromosome 20	biolink:Disease	mondo	Orphanet:262995	ordo_group_of_disorders	partial duplication of chromosome 20q|partial trisomy of the long arm of chromosome type 20|partial duplication of the long arm of chromosome 20|partial trisomy of chromosome 20q	http://purl.obolibrary.org/obo/MONDO_0016970		ORPHA:262995
MONDO:0016971	limb-girdle muscular dystrophy	biolink:Disease	mondo	UMLS:C0270950|Orphanet:263|NCIT:C84828|UMLS:C0686353|GARD:0006907|SCTID:78468005|MESH:D049288|ICD10:G71.0|DOID:11724	ordo_group_of_disorders|gard_rare	erb's muscular dystrophy|Leyden-Mbius muscular dystrophy|LGMD|Leyden-Mobius muscular dystrophy|limb girdle muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0016971	Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD.	DOID:11724|NCIT:C84828|ORPHA:263|SNOMEDCT:78468005|UMLS:C0686353|UMLS:C0270950|MESH:D049288
MONDO:0016972	partial duplication of the long arm of chromosome 22	biolink:Disease	mondo	Orphanet:263004	ordo_group_of_disorders	partial duplication of chromosome 22q|partial trisomy of the long arm of chromosome 22|partial duplication of the long arm of chromosome type 22|partial trisomy of chromosome 22q	http://purl.obolibrary.org/obo/MONDO_0016972		ORPHA:263004
MONDO:0014310	hereditary sclerosing poikiloderma with tendon and pulmonary involvement	biolink:Disease	mondo	ICD10:Q82.8|OMIM:615704|UMLS:C3810325|Orphanet:221043|GARD:0013218	ordo_disease	POIKTMP syndrome|hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis|poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement|poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis; POIKTMP|poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis|hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome|POIKTMP	http://purl.obolibrary.org/obo/MONDO_0014310	Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.	ORPHA:221043|http://identifiers.org/omim/615704|UMLS:C3810325
MONDO:0004977	angioimmunoblastic T-cell lymphoma	biolink:Disease	mondo	ICD10:C86.5|EFO:0000255|UMLS:C0020981|Orphanet:86886|MEDDRA:10002449|ICDO:9767/1|ONCOTREE:AITL|GARD:11973|DOID:0111147|ICD9:202.70|MedDRA:10002449|NCIT:C7528|MESH:D007119|SCTID:413537009|GARD:0011973|ICDO:9705/3	gard_rare|ordo_disease	AILT|angioimmunoblastic T-cell lymphoma|AITL|immunoblastic lymphadenopathy|lymphogranulomatosis X|AILD|angioimmunoblastic lymphadenopathy|T-cell lymphoma, AILD type|angioimmunoblastic lymphadenopathy with Dysproteinemia|angioimmunoblastic lymphadenopathy type T-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0004977	A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes and extranodal sites. The clinical course is typically aggressive.	ORPHA:86886|DOID:0111147|MESH:D007119|NCIT:C7528|MEDDRA:10002449|SNOMEDCT:413537009|UMLS:C0020981
MONDO:0002314	chronic conjunctivitis	biolink:Disease	mondo	COHD:374036|DOID:2475|ICD9:372.10|ICD10:H10.4|SCTID:73762008|ICD9:372.1|UMLS:C0155145|NCIT:C35197|ICD10:H10.40		conjunctivitis (disease), chronic|chronic conjunctivitis|chronic conjunctivitis, unspecified|chronic conjunctivitis (disease)	http://purl.obolibrary.org/obo/MONDO_0002314	Conjunctivitis that is persistent and long-standing.	UMLS:C0155145|DOID:2475|SNOMEDCT:73762008|NCIT:C35197
MONDO:0004976	amyotrophic lateral sclerosis	biolink:Disease	mondo	ICD9:335.20|Orphanet:803|NCIT:C34373|OMIMPS:105500|ICD10:G12.21|UMLS:C0002736|NIFSTD:birnlex_12566|EFO:0000253|DOID:332|MESH:D000690|COHD:373182|OMIMPS:105400|KEGG:05014|SCTID:86044005|MedDRA:10002026|ICD10:G12.2|GARD:0005786	ordo_disease	Lou Gehrig's disease|Lou Gehrig disease|Charcot disease|ALS|motor neuron disease, bulbar	http://purl.obolibrary.org/obo/MONDO_0004976	Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.	MESH:D000690|ORPHA:803|MEDDRA:10002026|SNOMEDCT:86044005|UMLS:C0002736|DOID:332|NCIT:C34373
NCBITaxon:10232	Acanthocephala <thorny-headed worms>	organism taxon	mondo	GC_ID:1		thorny-headed worms|thorny-headed worms|Acanthocephala|acanthocephalans|spiny-headed worms	http://purl.obolibrary.org/obo/NCBITaxon_10232		
MONDO:0002315	obsolete hereditary spastic paraplegia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002315		
MONDO:0002316	motor peripheral neuropathy	biolink:Disease	mondo	DOID:2477|ICD9:356.9|SCTID:95663000|ICD10:G60.0|NCIT:C3500		HSMN|HSMN - hereditary sensory and motor neuropathy|peripheral motor neuropathy|hereditary motor and sensory neuropathy|neuropathic muscular atrophy	http://purl.obolibrary.org/obo/MONDO_0002316	Inflammation or degeneration of the peripheral motor nerves.	DOID:2477|SNOMEDCT:95663000|NCIT:C3500
MONDO:0004979	asthma	biolink:Disease	mondo	GARD:0010246|DOID:2841|EFO:0000270|KEGG:05310|ICD9:493|COHD:317009|ICD10:J45|NCIT:C28397|ICD10:J45.909|ICD9:493.9|UMLS:C0004096|ICD10:J45.90|HP:0002099|MESH:D001249|ICD9:493.81|SCTID:31387002		chronic obstructive asthma|chronic obstructive asthma with acute exacerbation|chronic obstructive asthma with status asthmaticus|bronchial hyperreactivity|exercise induced asthma|exercise-induced asthma	http://purl.obolibrary.org/obo/MONDO_0004979	A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety.	NCIT:C28397|DOID:2841|UMLS:C0004096|SNOMEDCT:31387002|MESH:D001249
MONDO:0004978	aortic stenosis	biolink:Disease	mondo	EFO:0000266|ICD9:395.0|ICD9:746.3|DOID:1712|ICD10:Q23.0|ICD10:I06.0|UMLS:C0155567		aortic valve stenosis|congenital aortic valve stenosis|rheumatic aortic valve stenosis|rheumatic aortic stenosis|AS|aortic stenosis	http://purl.obolibrary.org/obo/MONDO_0004978	In the same amount or manner; to the same degree; in the role, function, or capacity of.	NCIT:C64938|NCIT:C50462|UMLS:C0155567|DOID:1712
MONDO:0002317	central nervous system origin vertigo	biolink:Disease	mondo	COHD:381035|DOID:2479|UMLS:C0155503|SCTID:38403006|ICD10:H81.4|ICD10:H81.49|ICD9:386.2		vertigo of central origin|central vestibular vertigo	http://purl.obolibrary.org/obo/MONDO_0002317	An illusion of movement, either of the external world revolving around the individual or of the individual revolving in space. Vertigo may be associated with disorders of the inner ear (ear, inner); vestibular nerve; brainstem; or cerebral cortex. Lesions in the temporal lobe and parietal lobe may be associated with focal seizures that may feature vertigo as an ictal manifestation. (From Adams et al., Principles of Neurology, 6th ed, pp300-1)	DOID:2479|UMLS:C0155503|SNOMEDCT:38403006
HGNC:25786	REEP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25786		
MONDO:0002310	anterior dislocation of lens	biolink:Disease	mondo	UMLS:C0155372|ICD9:379.33|DOID:2460|COHD:374956|SCTID:37283009|ICD10:H27.12			http://purl.obolibrary.org/obo/MONDO_0002310		SNOMEDCT:37283009|DOID:2460|UMLS:C0155372
MONDO:0004973	adenosquamous lung carcinoma	biolink:Disease	mondo	DOID:4829|SCTID:707405009|UMLS:C0279557|NCIT:C9133|ICD9:162.9|ONCOTREE:LUAS|EFO:0000233		adenosquamous cell lung carcinoma|adenosquamous lung carcinoma|adenosquamous lung cancer|lung adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0004973	An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells.	SNOMEDCT:707405009|DOID:4829|NCIT:C9133|UMLS:C0279557
MONDO:0002311	retinal vascular disease	biolink:Disease	mondo	UMLS:C0154833|COHD:434337|DOID:2462|ICD9:362.13|NCIT:C35170|SCTID:57534004		retinal vascular disorder|retina circulation disorder	http://purl.obolibrary.org/obo/MONDO_0002311	Retinal damage resulting from diminished blood flow/oxygenation due to abnormalities of the retinal vessels. Causes include hypertension, diabetes, thrombosis, embolism, and hemorrhage.	SNOMEDCT:57534004|DOID:2462|UMLS:C0154833|NCIT:C35170
MONDO:0004972	adenoma	biolink:Disease	mondo	MESH:D000236|ICDO:8140/0|UMLS:C0001430|SCTID:443416007|DOID:657|NCIT:C2855|EFO:0000232		adenomas|adenoma|adenoma, benign|acinic cell adenoma|acinar cell adenoma (morphologic abnormality)|acinar cell adenoma	http://purl.obolibrary.org/obo/MONDO_0004972	A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract.	SNOMEDCT:443416007|NCIT:C2855|MESH:D000236|UMLS:C0001430|DOID:657
MONDO:0004975	Alzheimer disease	biolink:Disease	mondo	ICD9:331.0|ICD10:G30|HP:0002511|NCIT:C2866|ICD9:290.1|MESH:D000544|EFO:0000249|DOID:10652|KEGG:05010|COHD:378419|NIFSTD:birnlex_2092|UMLS:C0002395|SCTID:142811000119104|GARD:0000632|ICD10:G30.9		Alzheimer dementia|Alzheimers dementia|Alzheimer disease, familial|Alzheimer's disease|Alzheimer disease|Alzheimers disease|Alzheimer's dementia|AD	http://purl.obolibrary.org/obo/MONDO_0004975	A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.	DOID:10652|NCIT:C38778|SNOMEDCT:142811000119104|UMLS:C0002395|NCIT:C2866|MESH:D000544
MONDO:0002312	opportunistic mycosis	biolink:Disease	mondo	COHD:432248|DOID:2473|UMLS:C0029119|ICD9:118|ICD9:117.9|SCTID:78999002		opportunistic systemic mycoses|opportunistic mycoses	http://purl.obolibrary.org/obo/MONDO_0002312	A mycosis that arises from infection in an immunologically compromised host.	DOID:2473|UMLS:C0029119|SNOMEDCT:78999002
MONDO:0002313	vernal conjunctivitis	biolink:Disease	mondo	ICD9:372.13|NCIT:C34508|DOID:2474|UMLS:C0009773|SCTID:318316003|ICD10:H10.44|COHD:377559			http://purl.obolibrary.org/obo/MONDO_0002313	Inflammation of the cornea that is seasonal in nature.	UMLS:C0009773|NCIT:C34508|DOID:2474|SNOMEDCT:318316003
MONDO:0004974	adrenal gland pheochromocytoma	biolink:Disease	mondo	ICDO:8700/0|DOID:0050892|EFO:0000239|NCIT:C3326		adrenal medullary pheochromocytoma|adrenal gland chromaffin paraganglioma|pheochromocytoma (adrenal)|Intraadrenal paraganglioma|adrenal pheochromocytoma|adrenal gland paraganglioma|adrenal gland pheochromocytoma|adrenal medullary paraganglioma|PCC|chromaffin paraganglioma of the adrenal gland|adrenal gland Chromaffinoma|pheochromocytoma	http://purl.obolibrary.org/obo/MONDO_0004974	A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines. It arises from the chromaffin cells of the adrenal medulla. Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor. Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen. Other growth patterns including trabecular pattern may also be present.	DOID:0050892|NCIT:C3326
NCBITaxon:10239	Viruses	organism taxon	mondo	GC_ID:1		viruses|Vira|Viridae	http://purl.obolibrary.org/obo/NCBITaxon_10239		
HGNC:25781	ARMC5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25781		
MONDO:0004971	adenoid cystic carcinoma	biolink:Disease	mondo	GARD:0005743|ICDO:8200/3|MESH:D003528|ONCOTREE:ACYC|UMLS:C0010606|NCIT:C2970|DOID:0080202|EFO:0000231	gard_rare	cribriform carcinoma|adenoid cystic carcinoma|adenocystic carcinoma|adenoid cystic cancer|cylindroid adenocarcinoma|cylindroma	http://purl.obolibrary.org/obo/MONDO_0004971	A malignant tumor arising from the epithelial cells. Microscopically, the neoplastic epithelial cells form cylindrical spatial configurations (cribriform or classic type of adenoid cystic carcinoma), cordlike structures (tubular type of adenoid cystic carcinoma), or solid structures (basaloid variant of adenoid cystic carcinoma). Adenoid cystic carcinomas mostly occur in the salivary glands. Other primary sites of involvement include the lacrimal gland, the larynx, and the lungs. Adenoid cystic carcinomas spread along nerve sheaths, resulting in severe pain, and they tend to recur. Lymph node metastases are unusual; hematogenous tumor spread is characteristic.	UMLS:C0010606|MESH:D003528|DOID:0080202|NCIT:C2970
MONDO:0004970	adenocarcinoma	biolink:Disease	mondo	SCTID:443961001|CSP:2000-0386|UMLS:C0001418|ONCOTREE:ADNOS|EFO:0000228|DOID:299|ICDO:8140/3|MESH:D000230|NCIT:C2852		adenocarcinomas|adenocarcinoma, NOS|adenocarcinoma NOS (morphologic abnormality)|adenocarcinoma, malignant|adenocarcinoma, no subtype (morphologic abnormality)|adenocarcinoma|ADNOS	http://purl.obolibrary.org/obo/MONDO_0004970	A common cancer characterized by the presence of malignant glandular cells. Morphologically, adenocarcinomas are classified according to the growth pattern (e.g., papillary, alveolar) or according to the secreting product (e.g., mucinous, serous). Representative examples of adenocarcinoma are ductal and lobular breast carcinoma, lung adenocarcinoma, renal cell carcinoma, hepatocellular carcinoma (hepatoma), colon adenocarcinoma, and prostate adenocarcinoma.	SNOMEDCT:443961001|NCIT:C2852|DOID:299|MESH:D000230|UMLS:C0001418
MONDO:0016959	partial duplication of the long arm of chromosome 8	biolink:Disease	mondo	Orphanet:262896	ordo_group_of_disorders	partial duplication of chromosome 8q|partial duplication of the long arm of chromosome type 8|partial trisomy of chromosome 8q|partial trisomy of the long arm of chromosome 8	http://purl.obolibrary.org/obo/MONDO_0016959		ORPHA:262896
GO:0048523	negative regulation of cellular process	biolink:OntologyClass	mondo			downregulation of cellular process|down regulation of cellular process|inhibition of cellular process|negative regulation of cellular physiological process|down-regulation of cellular process	http://purl.obolibrary.org/obo/GO_0048523	Any process that stops, prevents, or reduces the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level.	
GO:0048522	positive regulation of cellular process	biolink:OntologyClass	mondo			up regulation of cellular process|stimulation of cellular process|activation of cellular process|up-regulation of cellular process|upregulation of cellular process|positive regulation of cellular physiological process	http://purl.obolibrary.org/obo/GO_0048522	Any process that activates or increases the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level.	
HGNC:25784	DCAF17	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25784		
GO:0048521	negative regulation of behavior	biolink:OntologyClass	mondo			inhibition of behavior|down-regulation of behavior|downregulation of behavior|down regulation of behavior	http://purl.obolibrary.org/obo/GO_0048521	Any process that stops, prevents, or reduces the frequency, rate or extent of behavior, the internally coordinated responses (actions or inactions) of whole living organisms (individuals or groups) to internal or external stimuli.	
GO:0048520	positive regulation of behavior	biolink:OntologyClass	mondo			upregulation of behavior|up regulation of behavior|stimulation of behavior|up-regulation of behavior|activation of behavior	http://purl.obolibrary.org/obo/GO_0048520	Any process that activates or increases the frequency, rate or extent of behavior, the internally coordinated responses (actions or inactions) of whole living organisms (individuals or groups) to internal or external stimuli.	
MONDO:0014303	hereditary spastic paraplegia 64	biolink:Disease	mondo	SCTID:726609005|Orphanet:401810|UMLS:C3810289|ICD10:G11.4|UMLS:C4511960|OMIM:615683|DOID:0110815	ordo_disease	spastic paraplegia 64, autosomal recessive|spastic paraplegia 64, autosomal recessive; SPG64|hereditary spastic paraplegia type 64|autosomal recessive spastic paraplegia type 64|SPG64|autosomal recessive complex spastic paraplegia caused by mutation in ENTPD1|ENTPD1 autosomal recessive complex spastic paraplegia|autosomal recessive spastic paraplegia 64	http://purl.obolibrary.org/obo/MONDO_0014303	An extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1.	DOID:0110815|UMLS:C4511960|UMLS:C3810289|http://identifiers.org/omim/615683|ORPHA:401810|SNOMEDCT:726609005
MONDO:0016966	partial trisomy of the long arm of chromosome 16	biolink:Disease	mondo	GARD:0005316|UMLS:CN036363|Orphanet:262959|MESH:C538042	gard_rare|ordo_group_of_disorders	partial duplication of chromosome 16q|chromosome 16q duplication|partial trisomy 16q|16q trisomy|trisomy 16q|partial duplication of the long arm of chromosome 16|partial trisomy of the long arm of chromosome type 16|16q duplication|Duplication 16q|partial trisomy of chromosome 16q	http://purl.obolibrary.org/obo/MONDO_0016966		UMLS:CN036363|MESH:C538042|ORPHA:262959
MONDO:0016967	partial duplication of the long arm of chromosome 17	biolink:Disease	mondo	UMLS:CN035860|Orphanet:262968|GARD:0005320	ordo_group_of_disorders|gard_rare	chromosome 17q duplication|partial trisomy 17q|trisomy 17q|17q trisomy|partial duplication of chromosome 17q|Duplication 17q|17q duplication|partial duplication of the long arm of chromosome type 17|partial trisomy of the long arm of chromosome 17|partial trisomy of chromosome 17q	http://purl.obolibrary.org/obo/MONDO_0016967		UMLS:CN035860|ORPHA:262968
MONDO:0014302	hereditary spastic paraplegia 62	biolink:Disease	mondo	OMIM:615681|UMLS:C4284588|SCTID:765045003|Orphanet:401785|ICD10:G11.4|DOID:0110813	ordo_disease	SPG62|spastic paraplegia 62, autosomal recessive|spastic paraplegia 62, autosomal recessive; SPG62|ERLIN1 autosomal recessive pure spastic paraplegia|hereditary spastic paraplegia type 62|autosomal recessive pure spastic paraplegia caused by mutation in ERLIN1|autosomal recessive spastic paraplegia type 62|autosomal recessive spastic paraplegia 62	http://purl.obolibrary.org/obo/MONDO_0014302	Autosomal recessive spastic paraplegia type 62 is a pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some.	UMLS:C4284588|DOID:0110813|SNOMEDCT:765045003|http://identifiers.org/omim/615681|ORPHA:401785
MONDO:0016968	partial trisomy of the long arm of chromosome 18	biolink:Disease	mondo	UMLS:C0809935|GARD:0005324|Orphanet:262977|MESH:C538308	ordo_group_of_disorders|gard_rare	partial duplication of chromosome 18q|chromosome 18q duplication|partial duplication of the long arm of chromosome 18|partial trisomy of the long arm of chromosome type 18|18q partial trisomy|trisomy 18q|18q trisomy|partial trisomy of chromosome 18q|Duplication 18q|18q duplication	http://purl.obolibrary.org/obo/MONDO_0016968		UMLS:C0809935|MESH:C538308|ORPHA:262977
MONDO:0014301	DDD3	biolink:Disease	mondo	OMIM:615674|UMLS:C3810286		Dowling-Degos disease 3; DDD3|DDD3|Dowling-Degos disease 3	http://purl.obolibrary.org/obo/MONDO_0014301		http://identifiers.org/omim/615674|UMLS:C3810286
MONDO:0016969	partial duplication of the long arm of chromosome 19	biolink:Disease	mondo	GARD:0005326|MESH:C538311|Orphanet:262986|UMLS:C0795871	ordo_group_of_disorders|gard_rare	19q duplication|Duplication 19q|partial duplication of chromosome 19q|partial duplication of the long arm of chromosome type 19|chromosome 19q duplication|partial trisomy of the long arm of chromosome 19|partial trisomy 19q|19q trisomy|trisomy 19q|partial trisomy of chromosome 19q	http://purl.obolibrary.org/obo/MONDO_0016969		UMLS:C0795871|ORPHA:262986|MESH:C538311
MONDO:0014300	proximal myopathy with extrapyramidal signs	biolink:Disease	mondo	DOID:0111335|UMLS:C3810285|ICD10:G71.3|Orphanet:401768|GARD:0012978|OMIM:615673	ordo_disease	MPXPS|myopathy with extrapyramidal signs; MPXPS|myopathy with extrapyramidal signs	http://purl.obolibrary.org/obo/MONDO_0014300	Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.	http://identifiers.org/omim/615673|UMLS:C3810285|ORPHA:401768|DOID:0111335
MONDO:0016962	partial duplication of the long arm of chromosome 11	biolink:Disease	mondo	Orphanet:262923|GARD:0001923	ordo_group_of_disorders	partial duplication of the long arm of chromosome type 11|partial trisomy of chromosome 11q|chromosome 11q duplication|partial trisomy 11q|11q trisomy|trisomy 11q|partial duplication of chromosome 11q|Duplication 11q|11q duplication|partial trisomy of the long arm of chromosome 11	http://purl.obolibrary.org/obo/MONDO_0016962		ORPHA:262923
MONDO:0014307	Dowling-Degos disease 4	biolink:Disease	mondo	UMLS:C3810313|OMIM:615696		Dowling-Degos disease 4; DDD4|Dowling-Degos disease caused by mutation in POGLUT1|Dowling-Degos disease 4|Dowling-Degos disease type 4|POGLUT1 Dowling-Degos disease|DDD4	http://purl.obolibrary.org/obo/MONDO_0014307	Any Dowling-Degos disease in which the cause of the disease is a mutation in the POGLUT1 gene.	http://identifiers.org/omim/615696|UMLS:C3810313
MONDO:0014306	vasculitis due to ADA2 deficiency	biolink:Disease	mondo	ICD10:M30.8|Orphanet:404553|GARD:0012383|OMIM:615688	ordo_disease	childhood-onset polyarteritis nodosa|Ada2 deficiency|DADA2|vasculitis due to DADA2|polyarteritis nodosa, childhood-onset|polyarteritis nodosa, childhood-onset; PAN|adenosine deaminase 2 deficiency|PAN	http://purl.obolibrary.org/obo/MONDO_0014306	Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.	ORPHA:404553|http://identifiers.org/omim/615688
MONDO:0016963	partial duplication of the long arm of chromosome 13	biolink:Disease	mondo	GARD:0001929|Orphanet:262932	ordo_group_of_disorders|gard_rare	trisomy 13q|13q trisomy|13q duplication|Duplication 13q|partial trisomy of chromosome 13q|partial duplication of chromosome 13q|partial trisomy of the long arm of chromosome 13|chromosome 13q duplication|partial duplication of the long arm of chromosome type 13|partial trisomy 13q	http://purl.obolibrary.org/obo/MONDO_0016963	Chromosome 13q duplication is a chromosome abnormality that occurs when there is an extra(duplicated) copy of genetic material on the long arm (q) of chromosome 13.	ORPHA:262932
MONDO:0014305	hereditary spastic paraplegia 63	biolink:Disease	mondo	DOID:0110814|ICD10:G11.4|OMIM:615686|UMLS:C3810295|SCTID:726610000|Orphanet:401805	ordo_disease	autosomal recessive spastic paraplegia 63|spastic paraplegia 63|autosomal recessive complex spastic paraplegia caused by mutation in AMPD2|spastic paraplegia 63, autosomal recessive|autosomal recessive spastic paraplegia type 63|hereditary spastic paraplegia type 63|SPG63|spastic paraplegia 63, autosomal recessive; SPG63|AMPD2 autosomal recessive complex spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0014305	An extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2.	SNOMEDCT:726610000|DOID:0110814|UMLS:C3810295|http://identifiers.org/omim/615686|ORPHA:401805
MONDO:0016964	partial duplication of the long arm of chromosome 14	biolink:Disease	mondo	GARD:0005311|Orphanet:262941	ordo_group_of_disorders|gard_rare	14q trisomy|trisomy 14q|partial trisomy of chromosome 14q|Duplication 14q|14q duplication|partial trisomy of the long arm of chromosome 14|partial duplication of chromosome 14q|partial duplication of the long arm of chromosome type 14|chromosome 14q duplication|partial trisomy 14q	http://purl.obolibrary.org/obo/MONDO_0016964		ORPHA:262941
MONDO:0014304	hereditary spastic paraplegia 61	biolink:Disease	mondo	DOID:0110812|Orphanet:401780|UMLS:C4511962|ICD10:G11.4|UMLS:C3810294|SCTID:726611001|OMIM:615685	ordo_disease	autosomal recessive complex spastic paraplegia caused by mutation in ARL6IP1|spastic paraplegia 61, autosomal recessive|SPG61|autosomal recessive spastic paraplegia type 61|hereditary spastic paraplegia type 61|ARL6IP1 autosomal recessive complex spastic paraplegia|spastic paraplegia 61, autosomal recessive; SPG61|autosomal recessive spastic paraplegia 61	http://purl.obolibrary.org/obo/MONDO_0014304	A rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1.	SNOMEDCT:726611001|DOID:0110812|UMLS:C4511962|UMLS:C3810294|http://identifiers.org/omim/615685|ORPHA:401780
MONDO:0016965	partial duplication of the long arm of chromosome 15	biolink:Disease	mondo	GARD:0005314|UMLS:C0795858|Orphanet:262950|MESH:C538040	ordo_group_of_disorders|gard_rare	chromosome 15q duplication|partial trisomy 15q|partial trisomy of chromosome 15q|15q trisomy|trisomy 15q|partial trisomy of the long arm of chromosome 15|partial duplication of the long arm of chromosome type 15|partial duplication of chromosome 15q|Duplication 15q|15q duplication	http://purl.obolibrary.org/obo/MONDO_0016965	Chromosome 15q duplication is a chromosome abnormality that occurs when an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication and which genes are involved. Common features shared by many people with this duplication include developmental delay; intellectual disability; hypotonia (low muscle tone); seizures ; high and/or cleft palate (roof of the mouth); scoliosis ; slow growth; communication difficulties; behavioral problems; and distinctive facial features. Most cases are not inherited, although affected people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.	MESH:C538040|ORPHA:262950|UMLS:C0795858
HGNC:11140	SNCB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11140		
MONDO:0016960	partial trisomy of the long arm of chromosome 9	biolink:Disease	mondo	Orphanet:262905	ordo_group_of_disorders	partial duplication of the long arm of chromosome 9|partial duplication of chromosome 9q|partial trisomy of chromosome 9q|partial trisomy of the long arm of chromosome type 9	http://purl.obolibrary.org/obo/MONDO_0016960		ORPHA:262905
MONDO:0016961	partial duplication of the long arm of chromosome 10	biolink:Disease	mondo	Orphanet:262914	ordo_group_of_disorders	partial trisomy of the long arm of chromosome 10|partial trisomy of chromosome 10q|partial duplication of chromosome 10q	http://purl.obolibrary.org/obo/MONDO_0016961		ORPHA:262914
MONDO:0041959	fibrosis of bile duct	biolink:Disease	mondo	UMLS:C0520571|SCTID:48124008		biliary sclerosis|biliary duct fibrosis|fibrosis of bile duct	http://purl.obolibrary.org/obo/MONDO_0041959		UMLS:C0520571|SNOMEDCT:48124008
MONDO:0002307	blepharoconjunctivitis	biolink:Disease	mondo	COHD:374347|ICD9:372.2|DOID:2456|ICD10:H10.5|ICD10:H10.50|UMLS:C0005743|NCIT:C34430|ICD9:372.20|SCTID:68659002			http://purl.obolibrary.org/obo/MONDO_0002307	Inflammation of both the eyelids and the conjunctiva.	NCIT:C34430|SNOMEDCT:68659002|DOID:2456|UMLS:C0005743
MONDO:0004969	acute quadriplegic myopathy	biolink:Disease	mondo	EFO:0000225			http://purl.obolibrary.org/obo/MONDO_0004969	Acute quadriplegic myopathy (AQM) is a specific acquired myopathy in ICU patients. Patients with AQM are characterized by severe muscle weakness and atrophy of spinal nerve innervated limb and trunk muscles, while cranial nerve innervated craniofacial muscles, sensory and cognitive functions are spared or less affected. The muscle weakness is associated with altered muscle membrane properties and a preferential loss of the motor protein myosin and myosin-associated thick filament proteins. Prolonged mechanical ventilation, muscle unloading, postsynaptic block of neuromuscular transmission, sepsis and systemic corticosteroid hormone treatment have been suggested as important triggering factors in AQM.	
MONDO:0002308	giant papillary conjunctivitis	biolink:Disease	mondo	NCIT:C34507|DOID:2457|SCTID:231857004|UMLS:C0009769|ICD9:372.39|GARD:0008445	gard_rare	GPC	http://purl.obolibrary.org/obo/MONDO_0002308	Conjunctivitis that is associated with contact lens wear, and which is characterized by giant papillae in the tarsal conjunctiva.	UMLS:C0009769|NCIT:C34507|DOID:2457|SNOMEDCT:231857004
MONDO:0002309	papillary conjunctivitis	biolink:Disease	mondo	NCIT:C35616|DOID:2458|SCTID:416878008|ICD9:372.39|UMLS:C0854165			http://purl.obolibrary.org/obo/MONDO_0002309	Conjunctivitis that is characterized by the formation of papillae on the palpebral conjunctiva.	NCIT:C35616|SNOMEDCT:416878008|UMLS:C0854165|DOID:2458
HGNC:11142	SIK1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11142		
MONDO:0002325	tooth erosion, non-bacterial	biolink:Disease	mondo	DOID:2498|ICD9:521.3|ICD10:K03.2|SCTID:82212003|ICD9:521.35|MESH:D014077|ICD9:521.34|ICD9:521.30|UMLS:C0040436		tooth erosion|localized erosion|generalized erosion	http://purl.obolibrary.org/obo/MONDO_0002325	Progressive loss of tooth tissue by chemical processes that do not involve bacterial action. (Jablonski, Dictionary of Dentistry, 1992, p296)	UMLS:C0040436|SNOMEDCT:82212003|DOID:2498|MESH:D014077
MONDO:0004988	breast adenocarcinoma	biolink:Disease	mondo	DOID:3458|NCIT:C5214|EFO:0000304		adenocarcinoma of breast|adenocarcinoma of the breast|mammary adenocarcinoma|breast adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004988	A carcinoma that arises from glandular epithelial cells of the breast	DOID:3458|NCIT:C5214
NCBITaxon:10242	Orthopoxvirus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_10242		
MONDO:0004987	urinary bladder neoplasm	biolink:Disease	mondo	UMLS:C0005695|NCIT:C2901|EFO:0000294|COHD:200680|SCTID:126885006|ICD9:239.4		urinary bladder neoplasm|tumor of the bladder|tumor of bladder|tumor of urinary bladder|bladder neoplasm|neoplasm of the urinary bladder|urinary bladder tumors|urinary bladder neoplasms|urinary bladder neoplasm (disease)|neoplasm of the bladder|neoplasm of bladder|tumor of the urinary bladder|bladder tumor|neoplasm of urinary bladder|urinary bladder tumor|bladder tumors	http://purl.obolibrary.org/obo/MONDO_0004987	A benign or malignant, primary or metastatic neoplasm of the bladder. - 2003	UMLS:C0005695|NCIT:C2901|SNOMEDCT:126885006
NCBITaxon:10243	Cowpox virus	organism taxon	mondo	GC_ID:1		CPXV	http://purl.obolibrary.org/obo/NCBITaxon_10243		
MONDO:0002326	alcohol-induced mental disorder	biolink:Disease	mondo	ICD9:291.89|DOID:251|ICD9:291.8			http://purl.obolibrary.org/obo/MONDO_0002326		DOID:251
HGNC:25799	GUF1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25799		
UBERON:0013581	metapodium bone 1	biolink:AnatomicalEntity	mondo			metapodium I|metapodium 1	http://purl.obolibrary.org/obo/UBERON_0013581	A metapodium bone that is part of a digit 1 plus metapodial segment.	
NCBITaxon:10244	Monkeypox virus	organism taxon	mondo	GC_ID:1		monkey pox virus	http://purl.obolibrary.org/obo/NCBITaxon_10244		
MONDO:0002327	intracranial cavernous angioma	biolink:Disease	mondo	SCTID:445513004|NCIT:C5432|UMLS:C1334237|DOID:2516		intracranial cavernous angioma|intracranial cavernoma|intracranial cavernous hemangioma	http://purl.obolibrary.org/obo/MONDO_0002327	A cavernous hemangioma arising from the brain and meninges.	SNOMEDCT:445513004|DOID:2516|NCIT:C5432|UMLS:C1334237
MONDO:0004989	breast carcinoma	biolink:Disease	mondo	EFO:0000305|DOID:3459|NCIT:C4872|UMLS:C0678222|SCTID:254838004		mammary carcinoma|carcinoma of the breast|breast carcinoma|breast cancer, NOS|cancer of breast|cancer of the breast|carcinoma of breast|breast cancer|cancer, breast	http://purl.obolibrary.org/obo/MONDO_0004989	A carcinoma that arises from epithelial cells of the breast	DOID:3459|UMLS:C0678222|SNOMEDCT:254838004|NCIT:C4872
MONDO:0002328	intracranial hemangioma	biolink:Disease	mondo	COHD:441246|ICD9:228.02|ICD10:D18.02|UMLS:C0154050|SCTID:93468003|DOID:2517|NCIT:C3633		hemangioma of intracranial structure|intracranial hemangioma|hemangioma of the intracranial structure|angioma of the intracranial structure|hemangioma of intracranial structures|hemangioma of brain|intracranial structure hemangioma|angioma of intracranial structure|intracranial angioma|brain hemangioma	http://purl.obolibrary.org/obo/MONDO_0002328	A hemangioma arising from the brain and meninges.	SNOMEDCT:93468003|DOID:2517|UMLS:C0154050|NCIT:C3633
NCBITaxon:10245	Vaccinia virus	organism taxon	mondo	GC_ID:1		vaccinia virus VV	http://purl.obolibrary.org/obo/NCBITaxon_10245		
MONDO:0002321	sensory peripheral neuropathy	biolink:Disease	mondo	DOID:2491|UMLS:C0151313|ICD9:356.2|NCIT:C3501|SCTID:95662005|ICD9:356.9		sensory neuropathy|peripheral sensory neuropathy|sensory nerve peripheral neuropathy|peripheral neuropathy of sensory nerve	http://purl.obolibrary.org/obo/MONDO_0002321	Inflammation or degeneration of the sensory nerves.	DOID:2491|NCIT:C3501|SNOMEDCT:95662005|UMLS:C0151313
MONDO:0004984	basal-like breast carcinoma	biolink:Disease	mondo	NCIT:C53558|EFO:0000281|UMLS:C3642347		basal-like breast cancer|basal-like breast carcinoma|basal-like subtype of breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0004984	A biologic subset of breast carcinoma defined by high expression of genes characteristic of basal epithelial cells, including KRT5 and KRT17, annexin 8, CX3CL1, and TRIM29, and usually by lack of expression of the estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). It is the most common subtype of breast cancer associated with BRCA1 mutations, and is associated with a poor prognosis.	UMLS:C3642347|NCIT:C53558
HP:0200000	Dysharmonic bone age	biolink:PhenotypicFeature	mondo	UMLS:C4020918		Dysharmonic skeletal maturation	http://purl.obolibrary.org/obo/HP_0200000	Different levels of maturation of different bones.	
MONDO:0002322	angiodysplasia	biolink:Disease	mondo	ICD9:537.83|DOID:2494|UMLS:C0085411|MESH:D016888|SCTID:90858003		angiodysplasia of stomach and duodenum with hemorrhage	http://purl.obolibrary.org/obo/MONDO_0002322	Acquired degenerative dilation or expansion (ectasia) of normal blood vessels, often associated with aging. They are isolated, tortuous, thin-walled vessels and sources of bleeding. They occur most often in mucosal capillaries of the gastrointestinal tract leading to gastrointestinal hemorrhage and anemia.	SNOMEDCT:90858003|DOID:2494|MESH:D016888|UMLS:C0085411
MONDO:0004983	azoospermia	biolink:Disease	mondo	UMLS:C0004509|MESH:D053713|OMIMPS:258150|ICD10:N46.0|COHD:4143116|ICD10:N46.01|EFO:0000279|DOID:14227|ICD9:606.0|SCTID:425558002		spermatogenic failure	http://purl.obolibrary.org/obo/MONDO_0004983	Complete absence of spermatozoa in the semen.	MESH:D053713|SNOMEDCT:425558002|UMLS:C0004509|NCIT:C80076|DOID:14227
MONDO:0004986	urinary bladder carcinoma	biolink:Disease	mondo	HP:0002862|NCIT:C4912|SCTID:255108000|UMLS:C0699885|DOID:4007|EFO:0000292		urinary bladder cancer|carcinoma bladder|carcinoma of urinary bladder|cancer of the urinary bladder|cancer of urinary bladder|bladder carcinoma|carcinoma of the urinary bladder|cancer of the bladder|bladder cancer|urinary bladder carcinoma|cancer of bladder|carcinoma of the bladder|carcinoma of bladder	http://purl.obolibrary.org/obo/MONDO_0004986	A carcinoma that arises from epithelial cells of the urinary bladder	NCIT:C4912|DOID:4007|SNOMEDCT:255108000|UMLS:C0699885
MONDO:0002323	cherry hemangioma	biolink:Disease	mondo	DOID:2495|SCTID:5050001|NCIT:C4390|UMLS:C0343082		cherry hemangioma|Senile angioma|Senile hemangioma|Senile naevus of skin|cherry angioma	http://purl.obolibrary.org/obo/MONDO_0002323	A capillary hemangioma of the skin, presenting as a red papular lesion.	DOID:2495|NCIT:C4390|SNOMEDCT:5050001|UMLS:C0343082
MONDO:0004985	bipolar disorder	biolink:Disease	mondo	NCIT:C34423|NIFSTD:birnlex_12754|ICD10:F31.9|COHD:436665|SCTID:13746004|UMLS:C0005586|ICD9:296.89|EFO:0000289|DOID:3312|ICD9:296.40|ICD9:296.80|MESH:D001714|ICD9:296.60|ICD10:F31|DC:0000264		MAFD|bipolar depression|manic-depressive illness|major affective disorder|manic depressive disorder|major bipolar affective disorder|manic-depression|manic depressive disorder|manic depression|bipolar disorder manic phase|manic bipolar affective disorder|manic-depressive psychosis|bipolar affective disorder|mixed bipolar disorder|bipolar disorder|depressive-manic psych.|manic disorder|manic bipolar I disorder	http://purl.obolibrary.org/obo/MONDO_0004985	A disorder of the brain that causes unusual shifts in mood, energy, activity levels and the ability to carry out day-to-day tasks. Often these moods range and shift from periods of elation and energized behavior to those of hopelessness and depression.	UMLS:C0005586|SNOMEDCT:13746004|MESH:D001714|NCIT:C34423|DOID:3312
MONDO:0002324	obsolete enamel erosion	biolink:Disease	mondo	ICD9:521.31|DOID:2497			http://purl.obolibrary.org/obo/MONDO_0002324		DOID:2497
MONDO:0004980	atopic eczema	biolink:Disease	mondo	OMIMPS:603165|ICD10:L20|ICD10:L20.9|ICD9:691|NCIT:C3001|EFO:0000274|DOID:3310|ICD10:L20.81|ICD9:691.8		eczematous dermatitis|eczema|Atopic dermatitis|allergic form of dermatitis|eczema|Besnier's prurigo|allergic dermatitis|allergic|atopic eczema|Atopic neurodermatitis	http://purl.obolibrary.org/obo/MONDO_0004980	A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema.	NCIT:C3001|DOID:3310
HGNC:25792	USB1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25792		
MONDO:0004982	pancreatitis	biolink:Disease	mondo	DOID:4989|EFO:0000278|SCTID:75694006|ICD10:K85.9|UMLS:C0030305|NCIT:C3306|MESH:D010195		pancreas inflammation|inflammation of pancreas	http://purl.obolibrary.org/obo/MONDO_0004982	Inflammation of the pancreas.	NCIT:C3306|UMLS:C0030305|SNOMEDCT:75694006|DOID:4989|MESH:D010195
MONDO:0004981	atrial fibrillation (disease)	biolink:Disease	mondo	SCTID:49436004|HP:0005110|ICD10:I48|UMLS:C0004238|DOID:0060224|ICD9:427.31|COHD:313217|EFO:0000275|NCIT:C50466		atrial fibrillation|AFib|A-fib|AF	http://purl.obolibrary.org/obo/MONDO_0004981	A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC)	DOID:0060224|UMLS:C0004238|SNOMEDCT:49436004|NCIT:C50466
MONDO:0002320	congenital nervous system disorder	biolink:Disease	mondo	DOID:2490|ICD9:742|NCIT:C97172		congenital abnormality of the nervous system|congenital neurologic anomaly|congenital nervous system disorder	http://purl.obolibrary.org/obo/MONDO_0002320	An abnormality of the nervous system that is present at birth or detected in the neonatal period.	DOID:2490|NCIT:C97172
GO:0048534	hematopoietic or lymphoid organ development	biolink:OntologyClass	mondo			haemopoietic or lymphoid organ development|hemopoietic or lymphoid organ development|haematopoietic or lymphoid organ development	http://purl.obolibrary.org/obo/GO_0048534	The process whose specific outcome is the progression of any organ involved in hematopoiesis (also known as hemopoiesis) or lymphoid cell activation over time, from its formation to the mature structure. Such development includes differentiation of resident cell types (stromal cells) and of migratory cell types dependent on the unique microenvironment afforded by the organ for their proper differentiation.	
MONDO:0016948	partial duplication of the short arm of chromosome 11	biolink:Disease	mondo	Orphanet:262785	ordo_group_of_disorders	partial trisomy of chromosome 11p|partial trisomy of the short arm of chromosome 11|partial duplication of chromosome 11p|partial duplication of the short arm of chromosome type 11	http://purl.obolibrary.org/obo/MONDO_0016948		ORPHA:262785
MONDO:0016949	partial duplication of the short arm of chromosome 16	biolink:Disease	mondo	Orphanet:262794|GARD:0005315|UMLS:C0795861	gard_rare|ordo_group_of_disorders	partial trisomy of the short arm of chromosome 16|Duplication 16p|16p duplication|partial duplication of the short arm of chromosome type 16|partial trisomy of chromosome 16p|chromosome 16p duplication|partial trisomy 16p|16p trisomy|trisomy 16p|partial duplication of chromosome 16p	http://purl.obolibrary.org/obo/MONDO_0016949	Chromosome 16p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 16. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 16p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.	UMLS:C0795861|ORPHA:262794
UBERON:0013585	metapodium bone 5	biolink:AnatomicalEntity	mondo			metapodium V|metapodium 5	http://purl.obolibrary.org/obo/UBERON_0013585	A metapodium bone that is part of a digit 5 plus metapodial segment.	
MONDO:0016955	partial duplication of the long arm of chromosome 4	biolink:Disease	mondo	Orphanet:262860|ICD10:Q92.3|MESH:C537644|GARD:0005347|UMLS:C0795812|DOID:0111159	ordo_group_of_disorders|gard_rare	dup(4q) syndrome, partial|distal 4q trisomy|Duplication 4q syndrome, partial|chromosome 4q duplication|partial duplication of the long arm of chromosome type 4|partial trisomy distal 4q|chromosome 4, partial trisomy 4q|partial trisomy 4q syndrome|4q trisomy|Duplication 4q|partial duplication of chromosome 4q|4q duplication|partial trisomy of the long arm of chromosome 4|trisomy 4q|partial trisomy 4q|partial trisomy of chromosome 4q	http://purl.obolibrary.org/obo/MONDO_0016955	Chromosome 4q duplication is a chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 4. The severity and specific symptoms depend on the size and location of the duplication, and which genes are involved. Features that have been described in some people with chromosome 4q duplication include developmental delay, intellectual disability, behavioral problems, birth defects, and distinctive facial features. Most cases are inherited from an unaffected parent with a chromosomal rearrangement called a balanced translocation. Some cases are not inherited and occur sporadically. Treatment is based on the signs and symptoms present in each person.	DOID:0111159|MESH:C537644|UMLS:C0795812|ORPHA:262860
MONDO:0016956	partial trisomy of the long arm of chromosome 5	biolink:Disease	mondo	Orphanet:262869|MESH:C537650|UMLS:C1802398|GARD:0005351	ordo_group_of_disorders|gard_rare	5q trisomy|partial trisomy of the long arm of chromosome type 5|Duplication 5q|partial duplication of chromosome 5q|5q duplication|trisomy 5q|partial trisomy 5q|partial trisomy of chromosome 5q|partial duplication of the long arm of chromosome 5|chromosome 5q duplication	http://purl.obolibrary.org/obo/MONDO_0016956	Chromosome 5q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 5q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 5q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person.	UMLS:C1802398|MESH:C537650|ORPHA:262869
MONDO:0016957	partial duplication of the long arm of chromosome 6	biolink:Disease	mondo	MESH:C537812|Orphanet:262878|GARD:0005353	ordo_group_of_disorders|gard_rare	chromosome 6q duplication|partial trisomy of the long arm of chromosome 6|partial duplication of chromosome 6q|6q trisomy|Duplication 6q|partial trisomy of chromosome 6q|6q duplication|trisomy 6q|partial duplication of the long arm of chromosome type 6|partial trisomy 6q	http://purl.obolibrary.org/obo/MONDO_0016957	Chromosome 6q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. In most cases, chromosome 6q duplication occurs de novo or is inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Rarely, it is inherited from a parent with the same duplication. Treatment is based on the signs and symptoms present in each person.	MESH:C537812|ORPHA:262878
MONDO:0016958	partial duplication of the long arm of chromosome 7	biolink:Disease	mondo	MESH:C537821|GARD:0005357|UMLS:C0795821|Orphanet:262887	ordo_group_of_disorders|gard_rare	partial trisomy of the long arm of chromosome 7|trisomy 7q|partial trisomy 7q|partial duplication of chromosome 7q|chromosome 7q duplication|partial trisomy of chromosome 7q|partial duplication of the long arm of chromosome type 7|7q trisomy|Duplication 7q|7q duplication	http://purl.obolibrary.org/obo/MONDO_0016958	Chromosome 7q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.	UMLS:C0795821|MESH:C537821|ORPHA:262887
MONDO:0016951	partial trisomy/tetrasomy of the short arm of chromosome 18	biolink:Disease	mondo	Orphanet:262812	ordo_group_of_disorders	partial duplication/triplication of the short arm of chromosome 18|partial trisomy/tetrasomy of chromosome 18p|partial trisomy/tetrasomy of the short arm of chromosome type 18|partial duplication/triplication of chromosome 18p	http://purl.obolibrary.org/obo/MONDO_0016951		ORPHA:262812
MONDO:0016952	partial duplication of the long arm of chromosome 1	biolink:Disease	mondo	GARD:0010831|UMLS:C0795800|Orphanet:262833|NCIT:C36521	ordo_group_of_disorders	partial trisomy of the long arm of chromosome 1|1q duplications|partial duplication of chromosome 1q|partial duplication of the long arm of chromosome type 1|partial trisomy 1q|partial trisomy of chromosome 1q	http://purl.obolibrary.org/obo/MONDO_0016952		ORPHA:262833|NCIT:C36521|UMLS:C0795800
MONDO:0016953	partial duplication of the long arm of chromosome 2	biolink:Disease	mondo	MESH:C535367|UMLS:C0795805|GARD:0005340|Orphanet:262842	ordo_group_of_disorders|gard_rare	2q duplication|partial trisomy of the long arm of chromosome 2|trisomy 2q|partial trisomy 2q|partial duplication of the long arm of chromosome type 2|partial duplication of chromosome 2q|chromosome 2q duplication|2q trisomy|Duplication 2q|partial trisomy of chromosome 2q	http://purl.obolibrary.org/obo/MONDO_0016953	Chromosome 2q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.	MESH:C535367|ORPHA:262842|UMLS:C0795805
NCBITaxon:85819	Phthiraptera	organism taxon	mondo	GC_ID:1		lice|lice	http://purl.obolibrary.org/obo/NCBITaxon_85819		
MONDO:0016954	partial duplication of the long arm of chromosome 3	biolink:Disease	mondo	GARD:0005345|Orphanet:262851|MESH:C536813|UMLS:C0795809	ordo_group_of_disorders|gard_rare	chromosome 3q duplication|Duplication 3q|partial duplication of the long arm of chromosome type 3|trisomy 3q|partial duplication of chromosome 3q|chromosome 3, trisomy 3q|partial trisomy of chromosome 3q	http://purl.obolibrary.org/obo/MONDO_0016954	Chromosome 3q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on thelong arm (q) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person.	MESH:C536813|ORPHA:262851|UMLS:C0795809
MONDO:0016950	partial duplication of the short arm of chromosome 17	biolink:Disease	mondo	Orphanet:262803	ordo_group_of_disorders	partial duplication of chromosome 17p|partial trisomy of the short arm of chromosome 17|partial duplication of the short arm of chromosome type 17|partial trisomy of chromosome 17p	http://purl.obolibrary.org/obo/MONDO_0016950		ORPHA:262803
NCBITaxon:36855	Brucella canis	organism taxon	mondo	GC_ID:11		Brucella melitensis biovar Canis|Brucella melitensis bv. Canis	http://purl.obolibrary.org/obo/NCBITaxon_36855		
MONDO:0002318	trachea leiomyoma	biolink:Disease	mondo	SCTID:126703006|DOID:248|UMLS:C1336772|NCIT:C6049		trachea leiomyoma|leiomyoma of trachea|tracheal leiomyoma|leiomyoma of the trachea|tracheal tumor|trachea neoplasm|neoplasm of trachea|tracheal neoplasm	http://purl.obolibrary.org/obo/MONDO_0002318	A benign smooth muscle neoplasm arising from the trachea. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOID:248|NCIT:C6049|SNOMEDCT:126703006|UMLS:C1336772
MONDO:0002319	phosphorus metabolism disease	biolink:Disease	mondo	NCIT:C97095|UMLS:C0031707|ICD10:E83.3|ICD9:275.3|DOID:2485|COHD:435788|SCTID:87049008|MESH:D010760		phosphorus disorder|phosphorus metabolism disorder|disorder of phosphorus metabolism|phosphorus metabolic disorder	http://purl.obolibrary.org/obo/MONDO_0002319	A metabolic disorder that affects the phosphate homeostasis.	SNOMEDCT:87049008|UMLS:C0031707|DOID:2485|NCIT:C97095|MESH:D010760
HGNC:11153	SNRPB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11153		
NCBITaxon:10240	Poxviridae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_10240		
NCBITaxon:10241	Chordopoxvirinae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_10241		
MONDO:0002376	spleen angiosarcoma	biolink:Disease	mondo	SCTID:187821001|UMLS:C0346424|NCIT:C4564|ICD9:159.1|DOID:265		splenic hemangiosarcoma|hemangiosarcoma of spleen|angiosarcoma of spleen|angiosarcoma of the spleen|hemangiosarcoma of the spleen|angiosarcoma (disease) of spleen|spleen angiosarcoma (disease)|splenic angiosarcoma	http://purl.obolibrary.org/obo/MONDO_0002376	A malignant vascular neoplasm arising from the spleen.	UMLS:C0346424|DOID:265|SNOMEDCT:187821001|NCIT:C4564
MONDO:0002377	breast intracanalicular fibroadenoma	biolink:Disease	mondo	DOID:2656|ICDO:9011/0|UMLS:C0334496|NCIT:C4271		intracanalicular fibroadenoma of breast|intracanalicular fibroadenoma of the breast|intracanalicular breast fibroadenoma|intracanalicular fibroadenoma|breast intracanalicular fibroadenoma	http://purl.obolibrary.org/obo/MONDO_0002377	A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by distortion and compression of the ducts by proliferating stromal cells.	UMLS:C0334496|DOID:2656|NCIT:C4271
HGNC:23109	FAT4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23109		
MONDO:0002378	dermoid cyst	biolink:Disease	mondo	NCIT:C9011|DOID:2658|ICD10:K09.8|EFO:1000894|SCTID:441459009|MESH:D003884|UMLS:C2700593|ICDO:9084/0|UMLS:C2355625|UMLS:C0011649		subcutaneous cystic teratoma|benign cystic teratoma|dermoid cyst, benign|dermoid|dermoid tumor|teratoma, benign (morphologic abnormality)|mature cystic teratoma|dermoid cyst|teratoma, benign|dermoid choristoma|cystic dermoid choristoma|dermoid tumour	http://purl.obolibrary.org/obo/MONDO_0002378	A mature teratoma characterized by the presence of a cyst which is lined by mature tissue resembling the epidermis and the epidermal appendages. It occurs in the ovary, testis, and extragonadal sites including central nervous system and skin.	MESH:D003884|NCIT:C9011|UMLS:C2700593|SNOMEDCT:441459009|UMLS:C2355625|UMLS:C0011649|DOID:2658
MONDO:0002379	cystic teratoma	biolink:Disease	mondo	NCIT:C9014|DOID:2660|UMLS:C1368903		cystic teratoma	http://purl.obolibrary.org/obo/MONDO_0002379		NCIT:C9014|UMLS:C1368903|DOID:2660
MONDO:0002372	ovarian monodermal and highly specialized teratoma	biolink:Disease	mondo	NCIT:C8113|DOID:2641|UMLS:C0280134		ovarian germ cell monodermal and highly specialized teratoma|ovarian monodermal and highly specialized teratoma	http://purl.obolibrary.org/obo/MONDO_0002372	A teratoma of the ovary composed exclusively or predominantly of a single type of tissue derived from the ectoderm or endoderm. A representative example is struma ovarii which is a teratoma composed exclusively or predominantly of thyroid tissue.	NCIT:C8113|UMLS:C0280134|DOID:2641
MONDO:0002373	benign mesothelioma	biolink:Disease	mondo	DOID:2645|UMLS:C0348424|ICD9:215.9|SCTID:254825007|ICD10:C45|ICD10:C45.9		benign tumor of mesothelial tissue|benign tumor of mesothelium|mesothelioma, benign	http://purl.obolibrary.org/obo/MONDO_0002373	A benign proliferative neoplasm made up of epithelial and mesenchymal cells of the mesothelium which make up part of the serosal covering and lining of various organ surfaces within the body.	DOID:2645|UMLS:C0348424|SNOMEDCT:254825007
GO:1903942	positive regulation of respiratory gaseous exchange	biolink:OntologyClass	mondo			activation of respiratory gaseous exchange|up-regulation of respiratory gaseous exchange|upregulation of respiratory gaseous exchange|up regulation of respiratory gaseous exchange	http://purl.obolibrary.org/obo/GO_1903942	Any process that activates or increases the frequency, rate or extent of respiratory gaseous exchange.	
MONDO:0002374	obsolete parachordoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002374		
MONDO:0002375	sebaceous adenoma	biolink:Disease	mondo	DOID:2648|UMLS:C1368816|ICDO:8410/0|NCIT:C4174		adenoma of the sebaceous gland|sebaceous adenoma (morphologic abnormality)|adenoma of sebaceous gland|skin appendage sebaceous adenoma|adenoma, sebaceous, benign|sebaceous gland adenoma	http://purl.obolibrary.org/obo/MONDO_0002375	A benign, well circumscribed neoplasm arising from the sebaceous glands. It usually presents as a small yellowish tumor in the sun exposed skin of head and neck. It is characterized by the presence of sebaceous cells aggregates with a peripheral rim of basaloid cells.	UMLS:C1368816|DOID:2648|NCIT:C4174
GO:1903941	negative regulation of respiratory gaseous exchange	biolink:OntologyClass	mondo			downregulation of respiratory gaseous exchange|down regulation of respiratory gaseous exchange|inhibition of respiratory gaseous exchange|down-regulation of respiratory gaseous exchange	http://purl.obolibrary.org/obo/GO_1903941	Any process that stops, prevents or reduces the frequency, rate or extent of respiratory gaseous exchange.	
HGNC:25763	SMG9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25763		
GO:0048545	response to steroid hormone	biolink:OntologyClass	mondo			response to steroid hormone stimulus	http://purl.obolibrary.org/obo/GO_0048545	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a steroid hormone stimulus.	
MONDO:0002370	ovarian Brenner tumor	biolink:Disease	mondo	GARD:0009397|EFO:1000112|NCIT:C3872|MESH:D001948|DOID:2636|SCTID:254859006		Brenner tumor of the ovary|ovarian Brenner neoplasm|Brenner tumor of ovary|Brenner tumor|Brenner neoplasm of the ovary|Brenner neoplasm of ovary|benign ovarian Brenner tumor|ovarian Brenner tumor|ovary Brenner tumor	http://purl.obolibrary.org/obo/MONDO_0002370	A benign, borderline, or malignant transitional cell neoplasm arising from the ovary. It constitutes between 1% and 2% of all ovarian neoplasms. The average age at presentation is about 50 years. Grossly it is usually unilateral, firm and white or yellowish. Microscopically it consists of solid and cystic nests of epithelial cells resembling transitional epithelium surrounded by an abundant stromal component of dense, fibroblastic nature.	NCIT:C3872|MESH:D001948|SNOMEDCT:254859006|DOID:2636
MONDO:0002371	breast pericanalicular fibroadenoma	biolink:Disease	mondo	ICDO:9012/0|DOID:2639|NCIT:C4272|UMLS:C0334497		pericanalicular fibroadenoma (morphologic abnormality)|pericanalicular fibroadenoma of the breast|pericanalicular breast fibroadenoma|breast pericanalicular fibroadenoma|pericanalicular fibroadenoma|pericanalicular fibroadenoma of breast	http://purl.obolibrary.org/obo/MONDO_0002371	A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by circumferential proliferation of stromal cells around the ducts. This results in the formation of rounded ductal-epithelial structures.	DOID:2639|NCIT:C4272|UMLS:C0334497
MONDO:0014369	postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	biolink:Disease	mondo	DOID:0080328|UMLS:C4014479|OMIM:615849|Orphanet:420584|ICD10:Q87.8|GARD:0013349	ordo_malformation_syndrome	Pallister-Hall syndrome 2, formerly|Pallister-Hall syndrome 2|Culler-Jones syndrome|Culler-Jones syndrome; CJS|CJS	http://purl.obolibrary.org/obo/MONDO_0014369	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.	http://identifiers.org/omim/615849|DOID:0080328|UMLS:C4014479|ORPHA:420584
MONDO:0014368	melanoma, cutaneous malignant, susceptibility to, 10	biolink:Disease	mondo	OMIM:615848	predisposition	susceptibility to cutaneous malignant melanoma 10|melanoma, cutaneous malignant, susceptibility to, 10; CMM10|melanoma, cutaneous malignant, susceptibility to, 10|melanoma, cutaneous malignant, susceptibility to, type 10|CMM10	http://purl.obolibrary.org/obo/MONDO_0014368		http://identifiers.org/omim/615848
MONDO:0014367	Aicardi-Goutieres syndrome 7	biolink:Disease	mondo	OMIM:615846|UMLS:C3888244		AGS7|Aicardi-Goutieres syndrome type 7|Aicardi-Goutieres syndrome caused by mutation in IFIH1|Aicardi-Goutieres syndrome 7|Aicardi-Goutieres syndrome 7; AGS7|IFIH1 Aicardi-Goutieres syndrome	http://purl.obolibrary.org/obo/MONDO_0014367	Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the IFIH1 gene.	http://identifiers.org/omim/615846|UMLS:C3888244
MONDO:0014366	spermatogenic failure 14	biolink:Disease	mondo	UMLS:C4014454|DOID:0070179|OMIM:615842		SPGF14|spermatogenic failure 14; SPGF14|spermatogenic failure 14|ZMYND15 azoospermia|azoospermia caused by mutation in ZMYND15|spermatogenic failure type 14	http://purl.obolibrary.org/obo/MONDO_0014366	Any azoospermia in which the cause of the disease is a mutation in the ZMYND15 gene.	http://identifiers.org/omim/615842|UMLS:C4014454|DOID:0070179
HGNC:11123	SMS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11123		
MONDO:0014361	autism spectrum disorder due to AUTS2 deficiency	biolink:Disease	mondo	UMLS:C4014435|Orphanet:352490|DOID:0070056|ICD10:F84.1|OMIM:615834	ordo_disease	mental retardation, autosomal dominant 26|mental retardation, autosomal dominant 26; MRD26|intellectual disability type 26|autosomal dominant mental retardation 26|MRD26|ASD due to AUTS2 deficiency|autosomal dominant non-syndromic intellectual disability 26|AUTS2 syndrome|mental retardation, autosomal dominant type 26	http://purl.obolibrary.org/obo/MONDO_0014361	Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.	UMLS:C4014435|DOID:0070056|http://identifiers.org/omim/615834|ORPHA:352490
MONDO:0014360	developmental and epileptic encephalopathy, 21	biolink:Disease	mondo	DOID:0080443|OMIM:615833|UMLS:C4014430		DEE21|EIEE21|early infantile epileptic encephalopathy caused by mutation in NECAP1|epileptic encephalopathy, early infantile, 21|NECAP1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 21; EIEE21|epileptic encephalopathy, early infantile, type 21	http://purl.obolibrary.org/obo/MONDO_0014360	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the NECAP1 gene.	DOID:0080443|UMLS:C4014430|http://identifiers.org/omim/615833
NCBITaxon:10292	Herpesviridae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_10292		
NCBITaxon:10293	Alphaherpesvirinae	organism taxon	mondo	GC_ID:1		Alphaherpesviruses	http://purl.obolibrary.org/obo/NCBITaxon_10293		
MONDO:0014365	spermatogenic failure 13	biolink:Disease	mondo	OMIM:615841|DOID:0070182|UMLS:C4014449		TAF4B azoospermia|spermatogenic failure 13; SPGF13|SPGF13|azoospermia caused by mutation in TAF4B|spermatogenic failure 13|spermatogenic failure type 13	http://purl.obolibrary.org/obo/MONDO_0014365	Any azoospermia in which the cause of the disease is a mutation in the TAF4B gene.	UMLS:C4014449|DOID:0070182|http://identifiers.org/omim/615841
HGNC:11122	SMPX	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11122		
MONDO:0014364	mitochondrial complex III deficiency nuclear type 8	biolink:Disease	mondo	DOID:0080117|OMIM:615838|UMLS:C4014440		mitochondrial complex III deficiency, nuclear type 8|LYRM7 mitochondrial complex III deficiency|MC3DN8|mitochondrial Complex 3 deficiency, nuclear type 8|mitochondrial complex III deficiency, nuclear type 8; MC3DN8|mitochondrial complex III deficiency caused by mutation in LYRM7	http://purl.obolibrary.org/obo/MONDO_0014364	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the LYRM7 gene.	DOID:0080117|UMLS:C4014440|http://identifiers.org/omim/615838
NCBITaxon:10294	Simplexvirus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_10294		
NCBITaxon:578835	Rhipicephalus sanguineus group	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_578835		
MONDO:0014363	autosomal recessive nonsyndromic deafness 101	biolink:Disease	mondo	UMLS:C3892049|OMIM:615837|ICD10:H90.3|DOID:0110462		autosomal recessive nonsyndromic deafness caused by mutation in GRXCR2|GRXCR2 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 101|DFNB101|autosomal recessive nonsyndromic deafness type 101|deafness, autosomal recessive type 101|deafness, autosomal recessive 101; DFNB101|autosomal recessive deafness 101	http://purl.obolibrary.org/obo/MONDO_0014363	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR2 gene.	DOID:0110462|http://identifiers.org/omim/615837|UMLS:C3892049
HGNC:11120	SMPD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11120		
MONDO:0014362	chromosome 16 inversion, 0.45-Mb	biolink:Disease	mondo	OMIM:615835		chromosome 16 inversion, 0.45-Mb	http://purl.obolibrary.org/obo/MONDO_0014362		http://identifiers.org/omim/615835
HGNC:13780	GFM1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13780		
MONDO:0002387	liver angiosarcoma	biolink:Disease	mondo	ICD10:C22.3|GARD:0005813|DOID:268|ONCOTREE:LIAS|NCIT:C4438|UMLS:C0345907|ICDO:9124/3|SCTID:109844006	gard_rare	angiosarcoma (disease) of liver|liver angiosarcoma|primary angiosarcoma of the liver|primary angiosarcoma of liver|angiosarcoma of the liver|liver hemangiosarcoma|hemangiosarcoma of liver|Lias|hepatic angiosarcoma|hepatic hemangiosarcoma|hemangiosarcoma of the liver|angiosarcoma of liver|liver angiosarcoma (disease)	http://purl.obolibrary.org/obo/MONDO_0002387	A malignant vascular neoplasm arising from the liver.	DOID:268|UMLS:C0345907|NCIT:C4438|SNOMEDCT:109844006
GO:1903959	regulation of anion transmembrane transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1903959	Any process that modulates the frequency, rate or extent of anion transmembrane transport.	
MONDO:0002388	intracystic papillary adenoma	biolink:Disease	mondo	UMLS:C0334374|DOID:2682|ICDO:8504/0|NCIT:C4191		intracystic papillary adenoma (morphologic abnormality)|intracystic papillary adenoma|intracystic papilloma	http://purl.obolibrary.org/obo/MONDO_0002388	A papillary epithelial neoplasm arising in a cystically dilated breast duct.	DOID:2682|NCIT:C4191|UMLS:C0334374
MONDO:0002389	obsolete adenofibroma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002389		
MONDO:0002383	Pacinian tumor	biolink:Disease	mondo	NCIT:C4328|ICD9:215.9|UMLS:C0334599|ICDO:9507/0|DOID:2669|SCTID:404033003		Pacinian neurofibroma|Pacinian tumor (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0002383	A neurofibroma characterized by the presence of structures which resemble Vater-Pacini corpuscles.	DOID:2669|NCIT:C4328|UMLS:C0334599|SNOMEDCT:404033003
MONDO:0002384	obsolete transitional cell carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002384		
MONDO:0002385	benign cystic nephroma	biolink:Disease	mondo	EFO:1000213|ICDO:8959/0|DOID:2673|UMLS:C1266138|NCIT:C7504		benign multilocular cystic nephroma|benign cystic nephroma|cystic nephroma	http://purl.obolibrary.org/obo/MONDO_0002385	A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid.	UMLS:C1266138|NCIT:C7504|DOID:2673
HP:0033259	Non-motor seizure	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0033259	A seizure with clinical manifestation but without motor signs (other than possible behavior arrest) as its initial clinical manifestation. The electrographic onset may be generalized, focal, or unknown.	
MONDO:0002386	mixed epithelial stromal tumor of the kidney	biolink:Disease	mondo	DOID:2678|EFO:1000381|UMLS:C1272677|NCIT:C37263		adult mesoblastic nephroma|mixed epithelial and stromal tumour of kidney|mixed epithelial stromal tumor of the kidney|MEST|benign MEST	http://purl.obolibrary.org/obo/MONDO_0002386	A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria.	UMLS:C1272677|DOID:2678|NCIT:C37263
HGNC:25774	TCTN2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25774		
MONDO:0002380	myoepithelial tumor	biolink:Disease	mondo	ICDO:8982/1|DOID:2661|ICDO:8982/0|UMLS:C1947949|MESH:D009208|NCIT:C40392|UMLS:C0027070		myoepithelial neoplasm|myoepithelioma|myoepithelial tumor|benign myoepithelioma|myoepithelial adenoma	http://purl.obolibrary.org/obo/MONDO_0002380	A benign or malignant tumor characterized by the presence of cells that show myoepithelial differentiation. Based on its morphologic features, it is classified as benign or malignant. A representative example of benign myoepithelioma is benign salivary gland myoepithelioma. Representative examples of malignant myoepithelioma or myoepithelial carcinoma are malignant breast myoepithelioma and salivary gland myoepithelial carcinoma.	UMLS:C1947949|DOID:2661|UMLS:C0027070|NCIT:C40392|MESH:D009208
MONDO:0002381	sweat gland neoplasm	biolink:Disease	mondo	SCTID:126490003|DOID:2664|ICDO:8400/1|UMLS:C0038987|ICD9:239.2|MESH:D013544|NCIT:C3398|EFO:1001204		neoplasm of the sweat gland|tumor of sweat gland|sweat gland neoplasms|sweat gland neoplasm|sweat gland neoplasm (disease)|neoplasm of sweat gland|tumor of the sweat gland|sweat gland tumor|sweat gland tumor NOS (morphologic abnormality)|sweat gland tumor (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0002381	A benign or malignant neoplasm arising from the sweat glands.	MESH:D013544|UMLS:C0038987|DOID:2664|SNOMEDCT:126490003|NCIT:C3398
MONDO:0002382	benign mesenchymoma	biolink:Disease	mondo	UMLS:C0334491|NCIT:C4267|ICDO:8990/0|DOID:2667		mesenchymoma, benign (morphologic abnormality)|mesenchymal tumor, benign|mesenchymoma, benign	http://purl.obolibrary.org/obo/MONDO_0002382	A term describing a benign soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation.	DOID:2667|NCIT:C4267|UMLS:C0334491
MONDO:0014358	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	biolink:Disease	mondo	ICD10:Q87.8|DOID:0070055|Orphanet:412069|OMIM:615829|UMLS:C4014419|EFO:0009015	ordo_malformation_syndrome	mental retardation, autosomal dominant 25|Xia-Gibbs syndrome|autosomal dominant intellectual disability 25|intellectual disability, autosomal dominant 25|MRD25|autosomal dominant mental retardation 25	http://purl.obolibrary.org/obo/MONDO_0014358		DOID:0070055|http://identifiers.org/omim/615829|ORPHA:412069|UMLS:C4014419
MONDO:0014357	intellectual disability, autosomal dominant 24	biolink:Disease	mondo	OMIM:615828|UMLS:C4014414|DOID:0070054		autosomal dominant mental retardation 24|mental retardation, autosomal dominant type 24|intellectual disability, autosomal dominant type 24|autosomal dominant intellectual disability 24|mental retardation, autosomal dominant 24; MRD24|mental retardation, autosomal dominant 24|autosomal dominant non-syndromic intellectual disability caused by mutation in DEAF1|autosomal dominant non-syndromic intellectual disability 24|intellectual disability, autosomal dominant 24; MRD24|DEAF1 autosomal dominant non-syndromic intellectual disability|MRD24|intellectual disability, autosomal dominant 24	http://purl.obolibrary.org/obo/MONDO_0014357	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DEAF1 gene.	DOID:0070054|http://identifiers.org/omim/615828|UMLS:C4014414
MONDO:0014356	mitochondrial complex III deficiency nuclear type 7	biolink:Disease	mondo	DOID:0080116|OMIM:615824|UMLS:C4014408		mitochondrial complex III deficiency, nuclear type 7|mitochondrial complex III deficiency caused by mutation in UQCC2|mitochondrial Complex 3 deficiency, nuclear type 7|mitochondrial complex III deficiency, nuclear type 7; MC3DN7|UQCC2 mitochondrial complex III deficiency|MC3DN7	http://purl.obolibrary.org/obo/MONDO_0014356	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC2 gene.	http://identifiers.org/omim/615824|DOID:0080116|UMLS:C4014408
MONDO:0041903	gonococcal infection of joint	biolink:Disease	mondo	UMLS:C0153216|SCTID:44743006		gonococcal arthritis|gonococcal infection of joint|gonococcal joint infection|gonococcal rheumatism	http://purl.obolibrary.org/obo/MONDO_0041903		UMLS:C0153216|SNOMEDCT:44743006
MONDO:0014355	cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis	biolink:Disease	mondo	OMIM:615821|UMLS:C4014393		DCWHKTA|cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis; DCWHKTA|cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis	http://purl.obolibrary.org/obo/MONDO_0014355		http://identifiers.org/omim/615821|UMLS:C4014393
GO:0061512	protein localization to cilium	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0061512	A process in which a protein is transported to, or maintained in, a location within a cilium.	
HGNC:13797	PRX	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13797		
HGNC:11139	SNCAIP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11139		
MONDO:0014359	pigmented nodular adrenocortical disease, primary, 4	biolink:Disease	mondo	UMLS:C4014425|OMIM:615830		Cushing syndrome, adrenal, due to Ppnad4|PPNAD4|PRKACA primary pigmented nodular adrenocortical disease|ACTH-independent adrenal Cushing syndrome, somatic|pigmented nodular adrenocortical disease, primary, 4; PPNAD4|pigmented nodular adrenocortical disease, primary, type 4|primary pigmented nodular adrenocortical disease caused by mutation in PRKACA|pigmented nodular adrenocortical disease, primary, 4|chromosome 19P13 Duplication syndrome	http://purl.obolibrary.org/obo/MONDO_0014359	Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKACA gene.	http://identifiers.org/omim/615830|UMLS:C4014425
HGNC:11138	SNCA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11138		
MONDO:0014350	Seckel syndrome 8	biolink:Disease	mondo	OMIM:615807|UMLS:C3891452|DOID:0070009		Seckel syndrome caused by mutation in DNA2|SCKL8|Seckel syndrome 8; SCKL8|Seckel syndrome type 8|DNA2 Seckel syndrome|Seckel syndrome 8	http://purl.obolibrary.org/obo/MONDO_0014350	Any Seckel syndrome in which the cause of the disease is a mutation in the DNA2 gene.	UMLS:C3891452|DOID:0070009|http://identifiers.org/omim/615807
MONDO:0014354	intellectual disability, autosomal recessive 43	biolink:Disease	mondo	OMIM:615817|UMLS:C4014386		WASHC4 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive type 43|intellectual disability, autosomal recessive type 43|mental retardation, autosomal recessive 43|mental retardation, autosomal recessive 43; MRT43|autosomal recessive non-syndromic intellectual disability caused by mutation in WASHC4|MRT43|intellectual disability, autosomal recessive 43|intellectual disability, autosomal recessive 43; MRT43	http://purl.obolibrary.org/obo/MONDO_0014354	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the WASHC4 gene.	http://identifiers.org/omim/615817|UMLS:C4014386
HGNC:11133	SNAP29	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11133		
MONDO:0014353	PGM3-CDG	biolink:Disease	mondo	GARD:0004331|Orphanet:443811|ICD10:E77.8|UMLS:C4014371|OMIM:615816	ordo_disease	immunodeficiency 23; IMD23|Cid due to PGM3 deficiency|IMD23|phosphoglucomutase 3 deficiency|combined immunodeficiency due to PGM3 deficiency|immunodeficiency with hyper IgE and cognitive impairment|phosphoglucomutase deficiency type 3|immunodeficiency-vasculitis-myoclonus syndrome|PGM3-related congenital disorder of glycosylation|immunodeficiency type 23|immunodeficiency 23	http://purl.obolibrary.org/obo/MONDO_0014353		http://identifiers.org/omim/615816|ORPHA:443811|UMLS:C4014371
HGNC:11132	SNAP25	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11132		
MONDO:0014352	abdominal obesity-metabolic syndrome 3	biolink:Disease	mondo	DOID:0060612|UMLS:C4014361|OMIM:615812		abdominal obesity-metabolic syndrome type 3|abdominal obesity-metabolic syndrome 3|abdominal obesity-metabolic syndrome 3; AOMS3|DYRK1B metabolic syndrome|metabolic syndrome caused by mutation in DYRK1B|central obesity, type 2 diabetes, hypertension, and early-onset coronary artery disease|AOMS3	http://purl.obolibrary.org/obo/MONDO_0014352	Any metabolic syndrome in which the cause of the disease is a mutation in the DYRK1B gene.	http://identifiers.org/omim/615812|UMLS:C4014361|DOID:0060612
MONDO:0014351	pontocerebellar hypoplasia type 9	biolink:Disease	mondo	Orphanet:369920|OMIM:615809|DOID:0060278|ICD10:Q04.3|UMLS:C4014354	ordo_malformation_syndrome	pontocerebellar hypoplasia, type 9|pontocerebellar hypoplasia, type 9; PCH9|non-syndromic pontocerebellar hypoplasia caused by mutation in AMPD2|AMPD2 non-syndromic pontocerebellar hypoplasia|PCH9	http://purl.obolibrary.org/obo/MONDO_0014351	Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the AMPD2 gene.	UMLS:C4014354|DOID:0060278|ORPHA:369920|http://identifiers.org/omim/615809
MONDO:0002358	laryngeal carcinoma	biolink:Disease	mondo	GARD:0006862|SCTID:276975007|DOID:2600|NCIT:C4855|UMLS:C0595989		cancer of larynx|laryngeal cancer|cancer of the larynx|cancer of larynx|cancer of the larynx|carcinoma of the larynx|carcinoma of larynx|laryngeal throat cancer|larynx carcinoma|laryngeal cancer|laryngeal carcinoma|laryngeal throat cancer	http://purl.obolibrary.org/obo/MONDO_0002358	Carcinoma that arises from the laryngeal epithelium. More than 90% of laryngeal carcinomas are squamous cell carcinomas. The remainder are adenoid cystic carcinomas, mucoepidermoid carcinomas and carcinomas with neuroendocrine differentiation.	DOID:2600|NCIT:C4855|SNOMEDCT:276975007|UMLS:C0595989
MONDO:0002359	periosteal chondroma	biolink:Disease	mondo	ICDO:9221/0|DOID:2601|UMLS:C0334548|NCIT:C4302		juxtacortical chondroma (morphologic abnormality)|periosteal chondroma|juxtacortical chondroma	http://purl.obolibrary.org/obo/MONDO_0002359	A benign neoplasm of bone surface composed of hyaline cartilage. It arises beneath the periosteum and is characterized by the presence of chondrocytes, a lobulated growth pattern, and calcification.	DOID:2601|NCIT:C4302|UMLS:C0334548
NCBITaxon:10278	Molluscipoxvirus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_10278		
MONDO:0002354	benign laryngeal neoplasm	biolink:Disease	mondo	NCIT:C3601|SCTID:92175003|DOID:2598|UMLS:C0153952|COHD:23731|ICD9:212.1		larynx neoplasm|laryngeal tumor|benign tumor of larynx|benign tumor of the larynx|benign neoplasm of larynx|benign neoplasm of the larynx|benign larynx tumor|benign laryngeal tumor|laryngeal benign neoplasm|larynx benign neoplasm|benign laryngeal neoplasm|neoplasm of larynx|benign larynx neoplasm|laryngeal neoplasm, benign	http://purl.obolibrary.org/obo/MONDO_0002354	A non-metastasizing neoplasm that arises from the larynx. Representative examples include squamous papilloma and hemangioma.	SNOMEDCT:92175003|UMLS:C0153952|NCIT:C3601|DOID:2598
NCBITaxon:10279	Molluscum contagiosum virus	organism taxon	mondo	GC_ID:1		MOCV	http://purl.obolibrary.org/obo/NCBITaxon_10279		
MONDO:0002355	glottis carcinoma	biolink:Disease	mondo	SCTID:372103002|DOID:2599|NCIT:C4923|UMLS:C0740083		glottic carcinoma|glottic throat cancer|carcinoma of the glottis|cancer of the glottis|glottis cancer|carcinoma of glottis|cancer of glottis|glottis carcinoma	http://purl.obolibrary.org/obo/MONDO_0002355	A carcinoma that arises from epithelial cells of the glottis.	SNOMEDCT:372103002|NCIT:C4923|UMLS:C0740083|DOID:2599
MONDO:0002356	pancreas disease	biolink:Disease	mondo	ICD9:577.9|NCIT:C26842|DOID:26|SCTID:3855007|ICD9:577.8|MESH:D010182|ICD10:K86.8		pancreatic disorder|pancreas disease or disorder|disorder of pancreas|disease, pancreatic|disease of pancreas|disorder of pancreas|disease or disorder of pancreas|pancreatic disease|pancreas disease|diseases, pancreatic	http://purl.obolibrary.org/obo/MONDO_0002356	A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms.	NCIT:C26842|DOID:26|MESH:D010182|SNOMEDCT:3855007
MONDO:0002357	hepatic flexure cancer	biolink:Disease	mondo	ICD10:C18.3|ICD9:153.0|DOID:260|UMLS:C0153433|SCTID:363407001		cancer of hepatic flexure of colon|malignant hepatic flexure of colon neoplasm|Ca hepatic flexure - colon|malignant tumor of hepatic flexure|malignant neoplasm of hepatic flexure of colon|malignant neoplasm of hepatic flexure|hepatic flexure of colon cancer	http://purl.obolibrary.org/obo/MONDO_0002357	A malignant neoplasm involving the hepatic flexure of colon.	UMLS:C0153433|DOID:260|SNOMEDCT:363407001
MONDO:0002350	familial nephrotic syndrome	biolink:Disease	mondo	UMLS:CN043611|UMLS:C3501848|ICD10:N04|NCIT:C35337|OMIMPS:256300|SCTID:48796009|DOID:2590		hereditary nephrotic syndrome|congenital nephrotic syndrome	http://purl.obolibrary.org/obo/MONDO_0002350	An instance of nephrotic syndrome that is caused by an inherited modification of the individual's genome.	NCIT:C35337|UMLS:CN043611|UMLS:C3501848|DOID:2590|SNOMEDCT:48796009
MONDO:0002351	glottis cancer	biolink:Disease	mondo	NCIT:C3544|ICD9:161.0|COHD:4092211|SCTID:187841006|ICD10:C32.0|DOID:2595|UMLS:C0153483		Ca larynx - glottis|malignant tumor of glottis|cancer of glottis|malignant tumor of the glottis|glottis cancer|malignant glottis neoplasm|malignant neoplasm of glottis|malignant neoplasm of the glottis|malignant glottis tumor	http://purl.obolibrary.org/obo/MONDO_0002351	A malignant neoplasm that affects the glottic area of the larynx. The vast majority of cases represent squamous cell carcinomas.	UMLS:C0153483|NCIT:C3544|SNOMEDCT:187841006|DOID:2595
MONDO:0002352	larynx cancer	biolink:Disease	mondo	ICD9:161.8|UMLS:C0007107|EFO:1000354|NCIT:C7484|ICD10:C32|ICD9:161|DOID:2596|ICD9:161.9|SCTID:363429002|ICD10:C32.9		cancer of larynx|malignant larynx tumor|malignant neoplasm of the larynx|malignant larynx neoplasm|larynx cancer|malignant laryngeal neoplasm|malignant tumor of larynx|malignant tumor of the larynx|malignant neoplasm of larynx|malignant laryngeal tumor	http://purl.obolibrary.org/obo/MONDO_0002352	A primary or metastatic malignant neoplasm involving the larynx. The majority are carcinomas.	UMLS:C0007107|NCIT:C7484|DOID:2596|SNOMEDCT:363429002
MONDO:0002353	glottis neoplasm	biolink:Disease	mondo	SCTID:126693009|DOID:2597|UMLS:C0345713|NCIT:C4425		glottis neoplasm|neoplasm of glottis|glottis tumor|tumor of the glottis|glottis neoplasm (disease)|tumor of glottis|neoplasm of the glottis	http://purl.obolibrary.org/obo/MONDO_0002353	A benign or malignant neoplasm that affects the glottic area of the larynx.	NCIT:C4425|UMLS:C0345713|SNOMEDCT:126693009|DOID:2597
GO:1903961	positive regulation of anion transmembrane transport	biolink:OntologyClass	mondo			up-regulation of anion transmembrane transport|up regulation of anion transmembrane transport|activation of anion transmembrane transport|upregulation of anion transmembrane transport	http://purl.obolibrary.org/obo/GO_1903961	Any process that activates or increases the frequency, rate or extent of anion transmembrane transport.	
HGNC:25740	CEP78	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25740		
GO:1903960	negative regulation of anion transmembrane transport	biolink:OntologyClass	mondo			inhibition of anion transmembrane transport|downregulation of anion transmembrane transport|down-regulation of anion transmembrane transport|down regulation of anion transmembrane transport	http://purl.obolibrary.org/obo/GO_1903960	Any process that stops, prevents or reduces the frequency, rate or extent of anion transmembrane transport.	
GO:0048565	digestive tract development	biolink:OntologyClass	mondo			intestine development|intestinal development|gut development	http://purl.obolibrary.org/obo/GO_0048565	The process whose specific outcome is the progression of the digestive tract over time, from its formation to the mature structure. The digestive tract is the anatomical structure through which food passes and is processed.	
MONDO:0014347	short stature with microcephaly and distinctive facies	biolink:Disease	mondo	UMLS:C4014339|OMIM:615789		short stature with microcephaly and distinctive facies	http://purl.obolibrary.org/obo/MONDO_0014347		http://identifiers.org/omim/615789|UMLS:C4014339
MONDO:0014346	white sponge nevus 2	biolink:Disease	mondo	UMLS:C4014321|OMIM:615785		WSN2|White sponge Nevus type 2|WHITE sponge NEVUS 2; WSN2|white sponge nevus 2	http://purl.obolibrary.org/obo/MONDO_0014346		http://identifiers.org/omim/615785|UMLS:C4014321
HGNC:11103	SMARCB1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11103		
MONDO:0014345	retinitis pigmentosa 69	biolink:Disease	mondo	DOID:0110410|OMIM:615780|UMLS:C4014312|ICD10:H35.5		retinitis pigmentosa type 69|KIZ retinitis pigmentosa|retinitis pigmentosa 69; RP69|retinitis pigmentosa 69|retinitis pigmentosa caused by mutation in KIZ|RP69	http://purl.obolibrary.org/obo/MONDO_0014345	Any retinitis pigmentosa in which the cause of the disease is a mutation in the KIZ gene.	http://identifiers.org/omim/615780|UMLS:C4014312|DOID:0110410
HGNC:11102	SMARCAL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11102		
MONDO:0014344	congenital heart defects, multiple types, 4	biolink:Disease	mondo	OMIM:615779|UMLS:C4014310		CHTD4|congenital heart defects, multiple types, 4|NR2F2 congenital heart defects, multiple types|congenital heart defects, multiple types caused by mutation in NR2F2|congenital heart defects, multiple types, 4; CHTD4	http://purl.obolibrary.org/obo/MONDO_0014344	Any congenital heart defects, multiple types in which the cause of the disease is a mutation in the NR2F2 gene.	http://identifiers.org/omim/615779|UMLS:C4014310
GO:0061547	glycogen synthase activity, transferring glucose-1-phosphate	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0061547	Catalysis of the reaction: UDP-glucose + (1,4)-alpha-D-glucosyl(n) = UMP + (1,4)-alpha-D-glucosyl(n)-glucose-1-phosphate.	
MONDO:0014349	pontocerebellar hypoplasia type 10	biolink:Disease	mondo	ICD10:Q04.3|UMLS:C4014347|DOID:0060279|Orphanet:411493|OMIM:615803	ordo_malformation_syndrome	CLP1 non-syndromic pontocerebellar hypoplasia|PCH10|pontocerebellar hypoplasia, type 10; PCH10|CLP1-related pontocerebellar hypoplasia|pontocerebellar hypoplasia, type 10|non-syndromic pontocerebellar hypoplasia caused by mutation in CLP1	http://purl.obolibrary.org/obo/MONDO_0014349	Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the CLP1 gene.	http://identifiers.org/omim/615803|ORPHA:411493|UMLS:C4014347|DOID:0060279
MONDO:0014348	intellectual disability, autosomal recessive 42	biolink:Disease	mondo	OMIM:615802|UMLS:C4014343		mental retardation, autosomal recessive 42; MRT42|MRT42|intellectual disability, autosomal recessive type 42|PGAP1 autosomal recessive non-syndromic intellectual disability|glycosylphosphatidylinositol biosynthesis defect 9|intellectual disability, autosomal recessive 42; MRT42|autosomal recessive non-syndromic intellectual disability caused by mutation in PGAP1|intellectual disability, autosomal recessive 42|mental retardation, autosomal recessive type 42|mental retardation, autosomal recessive 42	http://purl.obolibrary.org/obo/MONDO_0014348	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PGAP1 gene.	http://identifiers.org/omim/615802|UMLS:C4014343
MONDO:0014343	Desbuquois dysplasia 2	biolink:Disease	mondo	OMIM:615777|UMLS:C4014294		XYLT1 Desbuquois dysplasia|Desbuquois dysplasia type 2|DBQD2|Desbuquois dysplasia caused by mutation in XYLT1|Desbuquois dysplasia 2; DBQD2|Desbuquois dysplasia 2	http://purl.obolibrary.org/obo/MONDO_0014343	Any Desbuquois dysplasia in which the cause of the disease is a mutation in the XYLT1 gene.	http://identifiers.org/omim/615777|UMLS:C4014294
HGNC:11100	SMARCA4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11100		
MONDO:0014342	female infertility due to zona pellucida defect	biolink:Disease	mondo	UMLS:C4014291|Orphanet:404466|OMIM:615774|ICD10:N97.8	ordo_disease	oocyte maturation defect; OOMD|oocyte maturation defect|OOMD1|oocyte maturation defect 1; OOMD1|oocyte maturation defect 1|OOMD	http://purl.obolibrary.org/obo/MONDO_0014342	Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa.	http://identifiers.org/omim/615774|UMLS:C4014291|ORPHA:404466
MONDO:0014341	complex cortical dysplasia with other brain malformations 6	biolink:Disease	mondo	DOID:0090136|OMIM:615771|UMLS:C4014283		cortical dysplasia, Complex, with Other brain malformations type 6|CDCBM56|cortical dysplasia, complex, with other brain malformations 6; CDCBM6|cortical dysplasia, complex, with other brain malformations 6|TUBB complex cortical dysplasia with other brain malformations|complex cortical dysplasia with other brain malformations type 6|complex cortical dysplasia with other brain malformations caused by mutation in TUBB|CDCBM6	http://purl.obolibrary.org/obo/MONDO_0014341	Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB gene.	http://identifiers.org/omim/615771|UMLS:C4014283|DOID:0090136
MONDO:0014340	atrial fibrillation, familial, 15	biolink:Disease	mondo	UMLS:C4014269|OMIM:615770		familial atrial fibrillation caused by mutation in NUP155|ATFB15|atrial fibrillation, familial, 15|atrial fibrillation, familial, type 15|NUP155 familial atrial fibrillation|atrial fibrillation, familial, 15; ATFB15	http://purl.obolibrary.org/obo/MONDO_0014340	Any familial atrial fibrillation in which the cause of the disease is a mutation in the NUP155 gene.	http://identifiers.org/omim/615770|UMLS:C4014269
MONDO:0002369	cystadenoma	biolink:Disease	mondo	ICDO:8440/0|NCIT:C2972|DOID:2634|MESH:D003537|UMLS:C0010633		cystadenoma|cystoma|cystadenoma, benign|cystadenoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0002369	A benign or borderline cystic epithelial neoplasm arising from the glandular epithelium. The epithelial cells line the cystic spaces which contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenomas.	MESH:D003537|NCIT:C2972|DOID:2634|UMLS:C0010633
MONDO:0002365	kidney hemangiopericytoma	biolink:Disease	mondo	DOID:262|NCIT:C4527|SCTID:254923001|UMLS:C0346256		hemangiopericytoma of the kidney|renal hemangiopericytoma|kidney spindle cell tumor|kidney hemangiopericytoma|hemangiopericytoma of kidney	http://purl.obolibrary.org/obo/MONDO_0002365	A hemangiopericytoma arising from the kidney.	NCIT:C4527|UMLS:C0346256|DOID:262|SNOMEDCT:254923001
GO:1901318	negative regulation of flagellated sperm motility	biolink:OntologyClass	mondo			down regulation of sperm motility|inhibition of sperm movement|down-regulation of sperm motility|negative regulation of sperm motility|downregulation of sperm movement|inhibition of sperm motility|down regulation of sperm movement|downregulation of sperm motility|down-regulation of sperm movement|negative regulation of sperm movement	http://purl.obolibrary.org/obo/GO_1901318	Any process that stops, prevents or reduces the frequency, rate or extent of flagellated sperm motility.	
MONDO:0002366	autonomic nervous system neoplasm	biolink:Disease	mondo	NCIT:C5112|DOID:2621|UMLS:C1332356		neoplasm of the autonomic nervous system|autonomic nervous system neoplasms|autonomic nervous system neoplasm|neoplasm of autonomic nervous system|tumor of autonomic nervous system|autonomic nervous system tumor|autonomic nervous system neoplasm (disease)|tumor of the autonomic nervous system	http://purl.obolibrary.org/obo/MONDO_0002366	Benign and malignant neoplasms which arise from or directly involve the central or peripheral elements of the autonomic nervous system.	UMLS:C1332356|NCIT:C5112|DOID:2621
MONDO:0002367	kidney cancer	biolink:Disease	mondo	ICD10:C64|DOID:263|UMLS:CN881103|MESH:D007680|ICD9:189.0|SCTID:363518003|NCIT:C7548		kidney cancer|malignant neoplasm of kidney|malignant neoplasm of kidney except pelvis|renal cancer|malignant neoplasm of the kidney|malignant kidney neoplasm|malignant kidney tumor|cancer of kidney|malignant tumour of kidney|malignant renal tumor|malignant tumor of kidney|malignant renal neoplasm|malignant tumor of the kidney	http://purl.obolibrary.org/obo/MONDO_0002367	Primary or metastatic malignant neoplasm involving the kidney.	SNOMEDCT:363518003|UMLS:CN881103|DOID:263|MESH:D007680|NCIT:C7548
MONDO:0002368	papillary serous cystadenocarcinoma	biolink:Disease	mondo	NCIT:C8377|SCTID:716649003|DOID:2632|UMLS:C0334359|ICDO:8460/3		serous surface papillary carcinoma (morphologic abnormality)|papillary serous cystadenocarcinoma|micropapillary serous carcinoma|serous surface papillary carcinoma|papillary serous carcinoma|papillary serous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002368	A malignant cystic serous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present.	UMLS:C0334359|SNOMEDCT:716649003|NCIT:C8377|DOID:2632
GO:1901317	regulation of flagellated sperm motility	biolink:OntologyClass	mondo			regulation of sperm movement|regulation of sperm motility	http://purl.obolibrary.org/obo/GO_1901317	Any process that modulates the frequency, rate or extent of flagellated sperm motility.	
MONDO:0002361	transverse colon cancer	biolink:Disease	mondo	ICD9:153.1|DOID:261|SCTID:363408006|UMLS:C0153434|ICD10:C18.4		malignant neoplasm of transverse colon|malignant transverse colon neoplasm|cancer of transverse colon|malignant tumor of transverse colon|transverse colon cancer|Ca transverse colon	http://purl.obolibrary.org/obo/MONDO_0002361	A malignant neoplasm involving the transverse colon.	SNOMEDCT:363408006|DOID:261|UMLS:C0153434
MONDO:0002362	serous surface papilloma	biolink:Disease	mondo	NCIT:C4181|DOID:2614|ICDO:8461/0|UMLS:C0334360		serous surface papilloma NOS (morphologic abnormality)|serous surface papilloma (morphologic abnormality)|serous surface papilloma	http://purl.obolibrary.org/obo/MONDO_0002362	A non-invasive papillary serous epithelial neoplasm usually arising from the ovary.	DOID:2614|NCIT:C4181|UMLS:C0334360
MONDO:0002363	papilloma	biolink:Disease	mondo	DOID:2615|MESH:D010212|UMLS:C0030354|SCTID:711329002|ICDO:8050/0|NCIT:C7440		papillomatosis|papilloma, benign|papilloma (except papilloma of bladder M-81201) (morphologic abnormality)|papillomatosis NOS (morphologic abnormality)|papillomatosis, NOS|papilloma	http://purl.obolibrary.org/obo/MONDO_0002363	A benign epithelial neoplasm that projects above the surrounding epithelial surface and consists of villous or arborescent outgrowths of fibrovascular stroma.	SNOMEDCT:711329002|UMLS:C0030354|NCIT:C7440|MESH:D010212|DOID:2615
HGNC:11109	SMARCE1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11109		
MONDO:0002364	obsolete Wolffian duct adenoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002364		
HGNC:25751	TRAPPC11	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25751		
MONDO:0002360	chondroma	biolink:Disease	mondo	DOID:2602|NCIT:C53459|GARD:0006052|MESH:D002812|ICDO:9220/0|UMLS:C0936248	gard_rare	chondroma|central chondroma|chondroma, benign	http://purl.obolibrary.org/obo/MONDO_0002360	A benign well circumscribed neoplasm of hyaline cartilage arising from bone or soft tissue. It is characterized by the presence of chondrocytes.	NCIT:C53459|MESH:D002812|DOID:2602|UMLS:C0936248
MONDO:0014336	intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	biolink:Disease	mondo	DOID:0070053|Orphanet:404440|UMLS:C3810406|ICD10:Q87.0|OMIM:615761	ordo_malformation_syndrome	mental retardation, autosomal dominant type 23|intellectual disability, autosomal dominant 23; MRD23|autosomal dominant mental retardation 23|mental retardation, autosomal dominant 23; MRD23|intellectual disability, autosomal dominant 23|autosomal dominant intellectual disability 23|mental retardation, autosomal dominant 23|intellectual disability, autosomal dominant type 23|autosomal dominant non-syndromic intellectual disability 23|MRD23	http://purl.obolibrary.org/obo/MONDO_0014336		ORPHA:404440|DOID:0070053|UMLS:C3810406|http://identifiers.org/omim/615761
MONDO:0016999	X chromosome number anomaly	biolink:Disease	mondo	Orphanet:263714	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016999		ORPHA:263714
HGNC:11115	KDM5D	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11115		
MONDO:0014335	diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	biolink:Disease	mondo	ICD10:G98|UMLS:C4014239|OMIM:615760|Orphanet:404437	ordo_malformation_syndrome	microcephaly, progressive, with seizures and cerebral and cerebellar atrophy|microcephaly, progressive, with seizures and cerebral and cerebellar atrophy; MSCCA|MSCCA	http://purl.obolibrary.org/obo/MONDO_0014335		ORPHA:404437|http://identifiers.org/omim/615760|UMLS:C4014239
HGNC:11114	KDM5C	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11114		
MONDO:0014334	severe combined immunodeficiency due to LCK deficiency	biolink:Disease	mondo	Orphanet:280142|OMIM:615758|ICD10:D81.1|UMLS:C4014233	ordo_disease	immunodeficiency type 22|IMD22|severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency|immunodeficiency 22|immunodeficiency 22; IMD22|SCID due to LCK deficiency|SCID due to lymphocyte-specific protein tyrosine kinase deficiency	http://purl.obolibrary.org/obo/MONDO_0014334		ORPHA:280142|http://identifiers.org/omim/615758|UMLS:C4014233
MONDO:0014333	polymicrogyria, bilateral perisylvian, autosomal recessive	biolink:Disease	mondo	UMLS:C3810405|OMIM:615752		polymicrogyria, bilateral perisylvian, autosomal recessive; BPPR|BPPR|Pmgr|polymicrogyria, bilateral perisylvian, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0014333		http://identifiers.org/omim/615752|UMLS:C3810405
MONDO:0016995	familial multiple meningioma	biolink:Disease	mondo	UMLS:CN202309|ICD10:D32.9|Orphanet:263662	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016995	Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic.	ORPHA:263662|UMLS:CN202309
HGNC:11119	SMO	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11119		
MONDO:0014339	autosomal recessive spinocerebellar ataxia 16	biolink:Disease	mondo	UMLS:C4014261|DOID:0080029|Orphanet:412057|ICD10:G11.1|OMIM:615768	ordo_disease	spinocerebellar ataxia, autosomal recessive type 16|spinocerebellar ataxia autosomal recessive type 16|STUB1 autosomal recessive cerebellar ataxia|spinocerebellar ataxia, autosomal recessive 16; SCAR16|spinocerebellar ataxia, autosomal recessive 16|autosomal recessive cerebellar ataxia due to STUB1 deficiency|autosomal recessive cerebellar ataxia caused by mutation in STUB1|autosomal recessive spinocerebellar ataxia type 16|SCAR16	http://purl.obolibrary.org/obo/MONDO_0014339	Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the STUB1 gene.	http://identifiers.org/omim/615768|ORPHA:412057|DOID:0080029|UMLS:C4014261
MONDO:0016996	NK-cell enteropathy	biolink:Disease	mondo	Orphanet:263665|UMLS:C4509932|ICD10:K63.8|SCTID:723496007	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016996	Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma.	ORPHA:263665|SNOMEDCT:723496007|UMLS:C4509932
HGNC:11118	SMN2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11118		
MONDO:0014338	IL21-related infantile inflammatory bowel disease	biolink:Disease	mondo	Orphanet:477661|UMLS:C4014258|OMIM:615767	ordo_disease	immunodeficiency, common variable, 11|immunodeficiency, common variable, type 11|IL21-related infantile IBD|CVID11|immunodeficiency, common variable, 11; CVID11|IL21 deficiency	http://purl.obolibrary.org/obo/MONDO_0014338		http://identifiers.org/omim/615767|UMLS:C4014258|ORPHA:477661
MONDO:0016997	obsolete hereditary epidermolysis bullosa associated with ocular features	biolink:Disease	mondo	Orphanet:263676	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016997		ORPHA:263676
HGNC:11117	SMN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11117		
MONDO:0014337	complex cortical dysplasia with other brain malformations 5	biolink:Disease	mondo	OMIM:615763|UMLS:C3810407|DOID:0090135		cortical dysplasia, complex, with other brain malformations 5; CDCBM5|TUBB2A complex cortical dysplasia with other brain malformations|cortical dysplasia, complex, with other brain malformations 5|complex cortical dysplasia with other brain malformations caused by mutation in TUBB2A|complex cortical dysplasia with other brain malformations type 5|cortical dysplasia, Complex, with Other brain malformations type 5|CDCBM5	http://purl.obolibrary.org/obo/MONDO_0014337	Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2A gene.	http://identifiers.org/omim/615763|UMLS:C3810407|DOID:0090135
MONDO:0016998	complex chromosomal rearrangement	biolink:Disease	mondo	Orphanet:263708	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016998		ORPHA:263708
MONDO:0016991	acute necrotizing encephalopathy of childhood	biolink:Disease	mondo	Orphanet:263524|SCTID:763310000|ICD10:G31.8	ordo_disease	isolated acute necrotizing encephalopathy|ANEC|isolated ANE	http://purl.obolibrary.org/obo/MONDO_0016991	Acute necrotizing encephalopathy of childhood is a rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases.	SNOMEDCT:763310000|ORPHA:263524
MONDO:0016992	peeling skin syndrome type B	biolink:Disease	mondo	UMLS:CN202306|ICD10:Q80.8|Orphanet:263553	ordo_clinical_subtype	PSS type B|generalized deciduous skin type B|generalized peeling skin syndrome type B|inflammatory peeling skin syndrome	http://purl.obolibrary.org/obo/MONDO_0016992	Peeling skin syndrome (PSS) type B, also known as peeling skin disease (PSD), is a rare inflammatory form of ichthyosis characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy.	UMLS:CN202306|ORPHA:263553
HGNC:13771	SOST	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13771		
MONDO:0016993	generalized peeling skin syndrome type C	biolink:Disease	mondo	Orphanet:263558|UMLS:CN202307|ICD10:Q80.8	ordo_clinical_subtype	peeling skin syndrome type C|generalized deciduous skin type C	http://purl.obolibrary.org/obo/MONDO_0016993		ORPHA:263558|UMLS:CN202307
MONDO:0016994	microcephalic osteodysplastic primordial dwarfism types I and III	biolink:Disease	mondo	UMLS:CN202308|GARD:0005120|SCTID:725461009|ICD10:Q87.1|Orphanet:2636	ordo_malformation_syndrome|gard_rare	MOPD 1|Cephaloskeletal dysplasia|primordial microcephalic dwarfism, Crachami type|microcephalic osteodysplastic primordial dwarfism type 1|Brachymelic primordial dwarfism|osteodysplastic primordial dwarfism type I|MOPD types I and III|Taybi-Linder syndrome|microcephalic osteodysplastic primordial dwarfism types 1 and 3|microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type|low-birth-weight dwarfism with skeletal dysplasia	http://purl.obolibrary.org/obo/MONDO_0016994	Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.	UMLS:CN202308|ORPHA:2636|SNOMEDCT:725461009
MONDO:0014332	hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	biolink:Disease	mondo	ICD10:E74.8|GARD:0013201|Orphanet:401948|OMIM:615751|UMLS:C3810404|SCTID:764456001	ordo_disease	carbonic anhydrase VA deficiency, hyperammonemia due to|carbonic anhydrase VA deficiency|CA-VA deficiency|hyperammonemia due to carbonic anhydrase VA deficiency|carbonic anhydrase 5A deficiency, hyperammonemia due to|carbonic anhydrase VA deficiency, hyperammonemia due to; CA5AD|CA5AD|mitochondrial carbonic anhydrase va deficiency	http://purl.obolibrary.org/obo/MONDO_0014332		http://identifiers.org/omim/615751|UMLS:C3810404|ORPHA:401948|SNOMEDCT:764456001
HGNC:11111	SMC1A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11111		
MONDO:0014331	Moyamoya disease with early-onset achalasia	biolink:Disease	mondo	Orphanet:401945|ICD10:I67.5|UMLS:C3810403|OMIM:615750|SCTID:718551002	ordo_disease	Moyamoya disease 6 with achalasia|MYMY6|Moyamoya disease 6 with achalasia; MYMY6	http://purl.obolibrary.org/obo/MONDO_0014331	Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis.	http://identifiers.org/omim/615750|UMLS:C3810403|ORPHA:401945|SNOMEDCT:718551002
HGNC:11110	ARID1A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11110		
MONDO:0014330	obsolete eculizumab, poor response to	biolink:Disease	mondo	UMLS:C3810402|OMIM:615749		eculizumab, poor response to	http://purl.obolibrary.org/obo/MONDO_0014330		http://identifiers.org/omim/615749|UMLS:C3810402
MONDO:0016990	acquired prothrombin deficiency	biolink:Disease	mondo	SCTID:4152002|MESH:C538174|GARD:0000475|ICD10:D68.4|UMLS:C0392610|NCIT:C131622|Orphanet:26348	ordo_disease	hypoprothrombinemia, acquired|acquired factor II deficiency|acquired prothrombin deficiency|acquired hypoprothrombinemia	http://purl.obolibrary.org/obo/MONDO_0016990	An instance of prothrombin deficiency that is acquired during the lifetime of the individual.	UMLS:C0392610|MESH:C538174|SNOMEDCT:4152002|ORPHA:26348|NCIT:C131622
HGNC:25843	ZNF750	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25843		
NCBITaxon:34064	Francisellaceae	organism taxon	mondo	PMID:16280474|PMID:26747442|GC_ID:11|PMID:22939414		Francisella group	http://purl.obolibrary.org/obo/NCBITaxon_34064		
NCBITaxon:85653		organism taxon	mondo				http://purl.obolibrary.org/obo/NCBITaxon_85653		
UBERON:0001668	cerebellar vein	biolink:AnatomicalEntity	mondo			epencephalon-1 vein|cerebellum vein|vein of cerebellum|vein of epencephalon-1	http://purl.obolibrary.org/obo/UBERON_0001668	A vein that drains the cerebellum.	
CHEBI:26666	short-chain fatty acid	biolink:ChemicalSubstance	mondo			SCFAs|short-chain fatty acids|SCFA	http://purl.obolibrary.org/obo/CHEBI_26666	An aliphatic monocarboxylic acid with a chain length of less than C6. If any non-hydrocarbon substituent is present, the compound is not normally regarded as a short-chain fatty acid.	
NCBITaxon:2759	Eukaryota	organism taxon	mondo	PMID:30257078|PMID:23020233|GC_ID:1		Eucaryotae|eukaryotes|Eucarya|eukaryotes|Eukaryotae|Eukarya|eucaryotes	http://purl.obolibrary.org/obo/NCBITaxon_2759		
HGNC:11201	SOX5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11201		
NCBITaxon:10090	Mus musculus	organism taxon	mondo	GC_ID:1		mouse|house mouse	http://purl.obolibrary.org/obo/NCBITaxon_10090		
HGNC:11204	SOX9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11204		
UBERON:0001675	trigeminal ganglion	biolink:AnatomicalEntity	mondo			trigeminal V ganglion|fused trigeminal ganglion|trigeminus ganglion|ganglion of trigeminal nerve|trigeminal ganglia|Gasserian ganglion|Gasserian ganglia|ganglion trigeminale|ganglion of trigeminal complex|gV|ganglion semilunare|Gasser's ganglion|fifth ganglion|semilunar ganglion|5th ganglion	http://purl.obolibrary.org/obo/UBERON_0001675	The cranial ganglion that is associated with and extends fibers into the trigeminal nerve.	
UBERON:0001677	sphenoid bone	biolink:AnatomicalEntity	mondo			os sphenoidum|sphenoid|os sphenoidale|sphenoidal bone|sphenoid complex|butterfly bone|os sphenoidale	http://purl.obolibrary.org/obo/UBERON_0001677	An unpaired bone situated at the base of the skull in front of the temporal bone and basilar part of the occipital bone. The sphenoid bone is one of the seven bones that articulate to form the orbit. Its shape somewhat resembles that of a butterfly or bat with its wings extended.	
HGNC:25839	GRHL3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25839		
UBERON:0001676	occipital bone	biolink:AnatomicalEntity	mondo			os occipitale|occipital squama|occipital complex	http://purl.obolibrary.org/obo/UBERON_0001676	the bone at the lower, posterior part of the skull	
HGNC:13861	LZTS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13861		
UBERON:0001673	central retinal vein	biolink:AnatomicalEntity	mondo			retinal vein|vena centralis retinae	http://purl.obolibrary.org/obo/UBERON_0001673	The central retinal vein (retinal vein) is a short vein that runs through the optic nerve and drains blood from the capillaries of the retina into the larger veins outside the eye. The anatomy of the veins of the orbit of the eye varies between individuals, and in some the central retinal vein drains into the superior ophthalmic vein, and in some it drains directly into the cavernous sinus. [WP,unvetted].	
MONDO:0004801	unilateral hypoactive labyrinth	biolink:Disease	mondo	DOID:9496|ICD9:386.53|UMLS:C0155517			http://purl.obolibrary.org/obo/MONDO_0004801		UMLS:C0155517|DOID:9496
CHEBI:75603	EC 6.* (ligase) inhibitor	biolink:ChemicalSubstance	mondo			ligase inhibitor|EC 6.*.*.* inhibitor|EC 6.* (ligase) inhibitors|EC 6.*.*.* inhibitors|ligase inhibitors|EC 6.* inhibitor|EC 6.* inhibitors	http://purl.obolibrary.org/obo/CHEBI_75603	Any enzyme inhibitor that interferes with the action of a ligase (EC 6.*.*.*). Ligases are enzymes that catalyse the joining of two molecules with concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate.	
MONDO:0004800	chronic dacryoadenitis	biolink:Disease	mondo	DOID:949|COHD:376416|SCTID:4760008|UMLS:C0155224|ICD10:H04.02|ICD9:375.02		dacryoadenitis, chronic	http://purl.obolibrary.org/obo/MONDO_0004800	Chronic form of dacryoadenitis.	SNOMEDCT:4760008|DOID:949|UMLS:C0155224
MONDO:0004803	disseminated eosinophilic collagen disease	biolink:Disease	mondo	SCTID:423486005|UMLS:C0263662|ICD9:710.8|DOID:9499			http://purl.obolibrary.org/obo/MONDO_0004803		SNOMEDCT:423486005|UMLS:C0263662|DOID:9499
CHEBI:75600	EC 6.3.* (C-N bond-forming ligase) inhibitor	biolink:ChemicalSubstance	mondo			C-N bond-forming ligase inhibitors|EC 6.3.* inhibitor|C-N bond-forming ligase (EC 6.3.*) inhibitor|EC 6.3.* (C-N bond-forming ligase) inhibitorS|EC 6.3.*.* inhibitor|C--N bond-forming ligase inhibitor|C--N bond-forming ligase inhibitors|EC 6.3.*.* inhibitors|C-N bond-forming ligase (EC 6.3.*) inhibitors|EC 6.3.* inhibitors|C-N bond-forming ligase inhibitor	http://purl.obolibrary.org/obo/CHEBI_75600	A ligase inhibitor that interferes with the action of a C-N bond-forming ligase (EC 6.3.*.*).	
MONDO:0004802	pulmonary eosinophilia	biolink:Disease	mondo	MESH:D011657|SCTID:367542003|UMLS:C0034068|ICD9:518.3|DOID:9498			http://purl.obolibrary.org/obo/MONDO_0004802	A condition characterized by infiltration of the lung with eosinophils due to inflammation or other disease processes. Major eosinophilic lung diseases are the eosinophilic pneumonias caused by infections, allergens, or toxic agents.	MESH:D011657|UMLS:C0034068|SNOMEDCT:367542003|DOID:9498
NCBITaxon:1933309	Oropouche orthobunyavirus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1933309		
CHEBI:26677	silicon molecular entity	biolink:ChemicalSubstance	mondo			silicon compounds|silicon molecular entities|silicon molecular entity	http://purl.obolibrary.org/obo/CHEBI_26677		
UBERON:0013645	gular gland	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0013645	A gland that is part of the gular region (throat)	
HGNC:11212	SPAG1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11212		
UBERON:0013636	epithelium of intestinal villus	biolink:AnatomicalEntity	mondo			villous epithelium|villus epithelium|intestinal villus epithelium	http://purl.obolibrary.org/obo/UBERON_0013636	A epithelium that is part of a intestinal villus.	
UBERON:0013637	prostate gland lateral lobe	biolink:AnatomicalEntity	mondo			lateral prostate|lateral ventral lobe of prostate gland|lateral lobe of prostate gland|lateral lobe of prostate	http://purl.obolibrary.org/obo/UBERON_0013637	The prostate gland lobe that is located on the lateral side of the organ.	
HGNC:13875	FOXP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13875		
UBERON:0001663	cerebral vein	biolink:AnatomicalEntity	mondo			venae cerebri|venae encephali	http://purl.obolibrary.org/obo/UBERON_0001663	The cerebral veins are divisible into external and internal groups according to the outer surfaces or the inner parts of the hemispheres they drain into. The external veins are the superior cerebral veins, inferior cerebral veins, and middle cerebral vein. [WP,unvetted].	
UBERON:0001665	triceps surae	biolink:AnatomicalEntity	mondo			gastrosoleus|sural triceps|gastrosoleus complex|calf muscle|musculus triceps surae	http://purl.obolibrary.org/obo/UBERON_0001665	The triceps surae is a pair of muscles located at the calf - the gastrocnemius and the soleus. These muscles both insert into the calcaneus, the bone of the heel of the human foot, and form the major part of the muscle of the back part of the lower leg, commonly known as the calf muscle. The triceps surae is connected to the foot through the Achilles tendon, and has 3 heads deriving from the 2 major masses of muscle. The superficial portion (the gastrocnemius) gives off 2 heads attaching to the base of the femur directly above the knee. The deep (profundis) mass of muscle (the soleus) forms the remaining head which attaches to the superior posterior area of the tibia. The triceps surae is innervated by the tibial nerve, specifically, nerve roots L5-S2. [WP,unvetted].	
HGNC:13872	RIPOR2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13872		
UBERON:0001649	glossopharyngeal nerve	biolink:AnatomicalEntity	mondo			CN-IX|9n|ninth cranial nerve|glossopharyngeal nerve tree|cranial nerve IX|nervus glossopharyngeus|glossopharyngeal IX|nervus glossopharyngeus|nerve IX|glossopharyngeal nerve [IX]|nervus glossopharyngeus [ix]|glossopharyngeal IX nerve	http://purl.obolibrary.org/obo/UBERON_0001649	Cranial nerve that branches into the ramus communicans (to the skin), the pretrematic (to the walls of the pharynx and mouth, viscero-sensory fibers), and the larval post-trematic branch (lost in the adult).	
UBERON:0001646	abducens nerve	biolink:AnatomicalEntity	mondo			nervus abducens|abducent nerve [VI]|abducens nerve tree|abducens nerve/root|sixth cranial nerve|lateral rectus nerve|abducens VI nerve|nerve VI|nervus abducens|CN-VI|abducent nerve|abducents VI nerve|nervus abducens [VI]|6n|cranial nerve VI|abducens nerve [VI]	http://purl.obolibrary.org/obo/UBERON_0001646	Cranial nerve that runs to the eye muscles.	
UBERON:0001645	trigeminal nerve	biolink:AnatomicalEntity	mondo			trigeminal V|fifth cranial nerve|nervus trigeminus|trigeminal v nerve|cranial nerve V|trigeminus|trigeminal nerve [V]|trigeminal nerve tree|nervus trigeminus [v]|CN-V|5n|nervus trigeminus|nerve V	http://purl.obolibrary.org/obo/UBERON_0001645	Cranial nerve that has three branches - the ophthalmic (supplying the skin of the nose and upper jaw), the maxillary and the mandibular (supplying the lower jaw).	
UBERON:0001648	vestibulocochlear nerve	biolink:AnatomicalEntity	mondo			eighth cranial nerve|vestibulocochlear nerve [VIII]|8n|acoustic VIII nerve|vestibulocochlear nerve tree|acoustic nerve (Crosby)|VIIIth cranial nerve|nervus vestibulocochlearis|nervus octavus|octaval nerve|CN-VIII|statoacoustic nerve|vestibulocochlear VIII nerve|nervus statoacusticus|nervus vestibulocochlearis [viii]|cranial nerve VIII|cochleovestibular nerve|stato-acoustic nerve|cochlear-vestibular nerve|VIII nerve|acoustic nerve	http://purl.obolibrary.org/obo/UBERON_0001648	Cranial nerve that transmits sound and equilibrium (balance) information from the inner ear to the brain.	
UBERON:0001647	facial nerve	biolink:AnatomicalEntity	mondo			nerve VII|nervus facialis|facial nerve or its root|facial nerve tree|facial nerve [VII]|face nerve|facial nerve/root|cranial nerve VII|seventh cranial nerve|facial VII|nerve of face|CN-VII|nervus facialis [vii]|branchiomeric cranial nerve|nervus facialis|7n|facial VII nerve	http://purl.obolibrary.org/obo/UBERON_0001647	Cranial nerve that branches into the supraorbital (supplying the skin of the eye region and the lateral line organs here), the palatine (to the roof of the buccal cavity), and the hyomandibular (dividing into the jugular and mental branches).	
UBERON:0013631	sesamoid element	biolink:AnatomicalEntity	mondo			sesamoid	http://purl.obolibrary.org/obo/UBERON_0013631	Ossicle that develops within bands of dense, regular connective tissue (e.g., tendons and ligaments). Sesamoids are generally located proximate to a bony prominence, over which the dense regular connective tissue wraps, and/or a joint or articulation.	
UBERON:0013632	sesamoid cartilage	biolink:AnatomicalEntity	mondo			cartilago sesamoidea|sesamoid cartilage of cricopharyngeal ligament	http://purl.obolibrary.org/obo/UBERON_0013632	A sesamoid element that is composed primarily of cartilage tissue.	
UBERON:0013630	short bone	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0013630	Short bones are designated as those bones that are as wide as they are long. Their primary function is to provide support and stability with little to no movement. They are one of five types of bones: long, short, flat, irregular and sesamoid. Examples of these bones include the tarsals in the foot and the carpals in the hand.	
HGNC:13841	ADGRG6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13841		
UBERON:0001653	facial vein	biolink:AnatomicalEntity	mondo			face vein|vena facialis anterior|anterior facial vein|vein of face	http://purl.obolibrary.org/obo/UBERON_0001653	The anterior facial vein (facial vein) commences at the side of the root of the nose, and is a direct continuation of the angular vein where it also receives a small nasal branch. It lies behind the facial artery and follows a less tortuous course. It receives blood from the external palatine vein before it either joins the anterior branch of the retromandibular vein to form the common facial vein, or drains directly into the internal jugular vein. [WP,unvetted].	
UBERON:0001652	left pulmonary artery	biolink:AnatomicalEntity	mondo			left pulmonary arterial tree|left main pulmonary artery|arteria pulmonalis sinistra	http://purl.obolibrary.org/obo/UBERON_0001652	The pulmonary artery that supplies the left lung.	
UBERON:0001651	right pulmonary artery	biolink:AnatomicalEntity	mondo			arteria pulmonalis dextra|right main pulmonary artery|right pulmonary arterial tree	http://purl.obolibrary.org/obo/UBERON_0001651	The pulmonary artery that supplies the right lung.	
UBERON:0001650	hypoglossal nerve	biolink:AnatomicalEntity	mondo			twelfth cranial nerve|12n|CN-XII|nervus hypoglossus [xii]|hypoglossal nerve tree|hypoglossal nerve [XII]|hypoglossal nerve/ root|nerve XII|hypoglossal XII|nervus hypoglossus|cranial nerve XII|nervi hypoglossalis|hypoglossal XII nerve	http://purl.obolibrary.org/obo/UBERON_0001650	Cranial nerve that innervates the muscles of the tongue.	
NCBITaxon:10088	Mus <genus>	organism taxon	mondo	GC_ID:1		mice|mouse|Mus	http://purl.obolibrary.org/obo/NCBITaxon_10088		
UBERON:0001638	vein	biolink:AnatomicalEntity	mondo			vena|venous vessel|vascular element|venous tree organ part|venous subtree|venae	http://purl.obolibrary.org/obo/UBERON_0001638	Any of the tubular branching vessels that carry blood from the capillaries toward the heart.	
UBERON:0001635	superior cerebellar artery	biolink:AnatomicalEntity	mondo			arteria superior cerebelli	http://purl.obolibrary.org/obo/UBERON_0001635	The superior cerebellar artery (SCA) arises near the termination of the basilar artery. It passes lateralward, immediately below the oculomotor nerve, which separates it from the posterior cerebral artery, winds around the cerebral peduncle, close to the trochlear nerve, and, arriving at the upper surface of the cerebellum, divides into branches which ramify in the pia mater and anastomose with those of the inferior cerebellar arteries. Several branches are given to the pineal body, the anterior medullary velum, and the tela chorioidea of the third ventricle. [WP,unvetted].	
UBERON:0001637	artery	biolink:AnatomicalEntity	mondo			arterial vessel|arterial tree organ part|arteries|arterial system|arterial subtree	http://purl.obolibrary.org/obo/UBERON_0001637	An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition].	
UBERON:0001636	posterior cerebral artery	biolink:AnatomicalEntity	mondo			arteria cerebri posterior	http://purl.obolibrary.org/obo/UBERON_0001636	The posterior cerebral artery (PCA) is one of a pair of blood vessels that supplies oxygenated blood to the posterior aspect of the brain in human anatomy]. It arises near the intersection of the posterior communicating artery and the basilar artery and connects with the ipsilateral middle cerebral artery (MCA) and internal carotid artery via the posterior communicating artery (PCommA). [WP,unvetted].	
CHEBI:38633	sodium channel blocker	biolink:ChemicalSubstance	mondo			Na channel blocker|sodium channel blockers	http://purl.obolibrary.org/obo/CHEBI_38633	An agent that inhibits sodium influx through cell membranes.	
CHEBI:38632	membrane transport modulator	biolink:ChemicalSubstance	mondo			membrane transport modulators	http://purl.obolibrary.org/obo/CHEBI_38632	Any agent that affects the transport of molecular entities across a biological membrane.	
UBERON:0001641	transverse sinus	biolink:AnatomicalEntity	mondo			lateral sinus|sinus transversus|transverse sinus|transverse sinus vein|groove for right and left transverse sinuses|sinus transversus durae matris	http://purl.obolibrary.org/obo/UBERON_0001641	one of the dural venous sinuses and drains the superior sagittal sinus the occipital sinus and the straight sinus, and empties into the sigmoid sinus which in turn reaches the jugular bulb.	
UBERON:0001644	trochlear nerve	biolink:AnatomicalEntity	mondo			CN-IV|trochlear IV nerve|trochlear nerve tree|pathetic nerve|nervus trochlearis [IV]|trochlear nerve/root|4n|nervus trochlearis|nerve IV|fourth cranial nerve|trochlear nerve or its root|superior oblique nerve|trochlear|trochlear nerve [IV]|cranial nerve IV	http://purl.obolibrary.org/obo/UBERON_0001644	A cranial nerve that runs to the eye muscles.	
UBERON:0001643	oculomotor nerve	biolink:AnatomicalEntity	mondo			third cranial nerve|occulomotor|cranial nerve III|oculomotor III nerve|oculomotor nerve tree|CN-III|nervus oculomotorius|3n|nervus oculomotorius [III]|nerve III|oculomotor nerve or its root|oculomotor nerve [III]|oculomotor III	http://purl.obolibrary.org/obo/UBERON_0001643	Cranial nerve which connects the midbrain to the extra-ocular and intra-ocular muscles.	
UBERON:0001640	celiac artery	biolink:AnatomicalEntity	mondo			coeliac trunk|arteria cœliaca|coeliac axis|coeliac trunck|coeliac artery|celiac trunk|truncus cœliacus|celiac tree|arteria coeliaca|truncus coeliacus	http://purl.obolibrary.org/obo/UBERON_0001640	The first major branch of the abdominal aorta.	
MONDO:0004834	ischemic fasciitis	biolink:Disease	mondo	NCIT:C6483|DOID:9601|SCTID:403990005|UMLS:C1304514		atypical decubital fibroplasia	http://purl.obolibrary.org/obo/MONDO_0004834	A reactive, painless lesion which is characterized by a pseudosarcomatous proliferation of fibroblasts and myofibroblasts usually in the deep subcutaneous tissue. It occurs mainly around the limb girdles, sacral region, and greater trochanter. It affects mainly elderly patients and sometimes is associated with physical immobility. Local excision is usually curative.	NCIT:C6483|SNOMEDCT:403990005|DOID:9601|UMLS:C1304514
MONDO:0004833	plantar fasciitis	biolink:Disease	mondo	MESH:D036981|EFO:1001909|ICD10:M72.2|DOID:9600|COHD:4002650|UMLS:C0149756|SCTID:202882003			http://purl.obolibrary.org/obo/MONDO_0004833	Inflammation of the thick tissue on the bottom of the foot (plantar fascia) causing heel pain. The plantar fascia (also called plantar aponeurosis) are bands of fibrous tissue extending from the calcaneal tuberosity to the toes. The etiology of plantar fasciitis remains controversial but is likely to involve a biomechanical imbalance. Though often presenting along with heel spur, they do not appear to be causally related.	SNOMEDCT:202882003|MESH:D036981|DOID:9600|UMLS:C0149756
MONDO:0004836	intravascular fasciitis	biolink:Disease	mondo	NCIT:C4729|DOID:9603|SCTID:254738007|UMLS:C0432529|ICD9:728.79		intravascular pseudosarcomatous fasciitis|intravascular nodular fasciitis	http://purl.obolibrary.org/obo/MONDO_0004836	A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the vessels. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity.	SNOMEDCT:254738007|UMLS:C0432529|DOID:9603|NCIT:C4729
MONDO:0004835	necrotizing fasciitis	biolink:Disease	mondo	MESH:D019115|COHD:133566|ICD9:728.86|DOID:9602|ICD10:M72.6|GARD:0006454|UMLS:C0238124|NCIT:C84916|SCTID:52486002	gard_rare		http://purl.obolibrary.org/obo/MONDO_0004835	Necrotizing fasciitis is a serious infection of the skin, the tissue just beneath the skin (subcutaneous tissue), and the tissue that covers internal organs (fascia). Necrotizing fasciitis can be caused by several different types of bacteria, and the infection can arise suddenly and spread quickly. Early signs include flu-like symptoms and redness and pain around the infection site. A prompt diagnosis and treatment are essential.If the infection is not treated promptly, it can lead to multiple organ failure and death. Treatment typically includes intravenous (IV) antibiotics and surgery to remove infected and dead tissue.	MESH:D019115|DOID:9602|NCIT:C84916|UMLS:C0238124|SNOMEDCT:52486002
MONDO:0004830	fasciitis (disease)	biolink:Disease	mondo	HP:0100537|NCIT:C50559|DOID:9598|UMLS:C0015645|MESH:D005208|ICD10:M72.9|COHD:133569|ICD9:729.4|SCTID:36948007		Fascitis|fasciitis|fascia inflammation|inflammation of fascia	http://purl.obolibrary.org/obo/MONDO_0004830	Inflammation process in fascia.	SNOMEDCT:36948007|NCIT:C50559|MESH:D005208|DOID:9598|UMLS:C0015645
MONDO:0004832	esophagus leiomyoma	biolink:Disease	mondo	DOID:960|UMLS:C0238114|NCIT:C3866|SCTID:276805005		esophagus leiomyoma|leiomyoma of the esophagus|leiomyoma of esophagus|esophageal leiomyoma	http://purl.obolibrary.org/obo/MONDO_0004832	A benign smooth muscle neoplasm arising from the lower part of the esophagus. It is the most common mesenchymal neoplasm of the esophagus. Dysphagia is a frequent clinical symptom.	DOID:960|SNOMEDCT:276805005|UMLS:C0238114|NCIT:C3866
MONDO:0004831	proliferative fasciitis	biolink:Disease	mondo	UMLS:C0432528|DOID:9599|SCTID:254737002|NCIT:C4728			http://purl.obolibrary.org/obo/MONDO_0004831	A rapidly growing, poorly circumscribed, mass-forming proliferation that arises from the subcutaneous tissues. It is characterized by the presence of spindle-shaped fibroblasts, round ganglion-like cells, myxoid to collagenous stroma formation, and high mitotic activity. It recurs only rarely following local excision and does not metastasize.	SNOMEDCT:254737002|UMLS:C0432528|DOID:9599|NCIT:C4728
HGNC:25801	CPLANE1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25801		
UBERON:0013697	exocrine pancreas epithelium	biolink:AnatomicalEntity	mondo			exocrine pancreas epithelial cell|epithelium of exocrine pancreas	http://purl.obolibrary.org/obo/UBERON_0013697	Epithelium lining the exocrine pancreas.	
UBERON:0013699	strand of axillary hair	biolink:AnatomicalEntity	mondo			axillary hair|hair of axilla|axilla hair	http://purl.obolibrary.org/obo/UBERON_0013699	A strand of hair that is part of a axilla.	
HGNC:13815	BCO1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13815		
MONDO:0016816	Leigh syndrome with nephrotic syndrome	biolink:Disease	mondo	Orphanet:255249|ICD10:G31.8|UMLS:CN202084	ordo_disease	Leigh disease with nephrotic syndrome|infantile subacute necrotizing encephalopathy with nephrotic syndrome	http://purl.obolibrary.org/obo/MONDO_0016816		ORPHA:255249|UMLS:CN202084
MONDO:0016817	Meier-Gorlin syndrome	biolink:Disease	mondo	MESH:C538012|MedDRA:10070612|GARD:0002033|OMIMPS:224690|Orphanet:2554|ICD10:Q87.1|DOID:0060306	ordo_malformation_syndrome	ear-patella-short stature syndrome|Meier-Gorlin syndrome	http://purl.obolibrary.org/obo/MONDO_0016817	Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).	MEDDRA:10070612|ORPHA:2554|UMLS:C1868684|DOID:0060306|MESH:C538012
UBERON:0013694	brain endothelium	biolink:AnatomicalEntity	mondo			cerebromicrovascular endothelium	http://purl.obolibrary.org/obo/UBERON_0013694	Vascular endothelium found in blood vessels of the blood-brain-barrier.	
UBERON:0013695	colon endothelium	biolink:AnatomicalEntity	mondo			colorectal endothelium|colorectal endothelial cell|colon endothelial cell|colonic endothelium|colon endothelial cells|colonic endothelial cell	http://purl.obolibrary.org/obo/UBERON_0013695	Vascular endothelium found in colon blood vessels.	
MONDO:0016818	Mikati-Najjar-Sahli syndrome	biolink:Disease	mondo	Orphanet:2558|ICD10:E22.8|UMLS:CN202088	ordo_malformation_syndrome	microcephaly-hypergonadotropic hypogonadism-short stature syndrome	http://purl.obolibrary.org/obo/MONDO_0016818	Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities).	ORPHA:2558|UMLS:CN202088
UBERON:0013696	tonsil epithelium	biolink:AnatomicalEntity	mondo			epithelium of tonsil|tonsil epithelial cell	http://purl.obolibrary.org/obo/UBERON_0013696	The epithelium that forms the surface of the tonsil dips into the underlying connective tissue in numerous places, forming crypts kown as tonsillar crypts. Stratified squamous epithelium, that may be heavily infiltrated by lymphocytes. Epithelial cells are present in the germinal as well as in the periphery of the nodule.	
MONDO:0016819	Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome	biolink:Disease	mondo	UMLS:C2931024|Orphanet:2560	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0016819	This syndrome is characterized by the association of MC6bius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism.	ORPHA:2560|UMLS:C2931024
HGNC:13818	SLC12A5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13818		
MONDO:0016823	mycetoma	biolink:Disease	mondo	SCTID:410039003|ICD10:B47|NCIT:C85505|ICD10:B47.9|MESH:D008271|Orphanet:2583|UMLS:C0024449|MedDRA:10028427|ICD10:B47.1|ICD10:B47.0|GARD:0003862	ordo_disease	Madura foot	http://purl.obolibrary.org/obo/MONDO_0016823	Mycetomas are subcutaneous inflammatory pseudotumors containing fungal or actinomycetic (bacteria with branched filaments) granules or grains.	MESH:D008271|SNOMEDCT:410039003|UMLS:C0024449|MEDDRA:10028427|NCIT:C85505|ORPHA:2583
MONDO:0016824	myofibromatosis	biolink:Disease	mondo	ICDO:8824/1|MESH:D018224|OMIMPS:228550|UMLS:C0206648|ONCOTREE:IMS|DOID:0080109|Orphanet:2591|NCIT:C3742|ICD10:D48.1|GARD:0002998	gard_rare|ordo_disease	myofibromatosis|infantile hemangiopericytoma|infantile myofibromatosis|multicentric myofibromatosis|IMS	http://purl.obolibrary.org/obo/MONDO_0016824	A benign, multifocal, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma.	UMLS:C0206648|UMLS:C0432284|MESH:D018224|NCIT:C3742|ORPHA:2591|DOID:0080109
MONDO:0016825	mitochondrial myopathy-lactic acidosis-deafness syndrome	biolink:Disease	mondo	Orphanet:2597|MESH:C537476|ICD10:G71.3|GARD:0003682|OMIM:251950	gard_rare|ordo_disease	mitochondrial myopathy with lactic acidosis|mitochondrial myopathy-lactic acidosis-hearing loss syndrome|MMLA|mitochondrial myopathy with lactic acidosis; MMLA|metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness	http://purl.obolibrary.org/obo/MONDO_0016825	Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.	MESH:C537476|UMLS:C1855033|http://identifiers.org/omim/251950|ORPHA:2597
MONDO:0016826	methylmalonic acidemia with homocystinuria	biolink:Disease	mondo	ICD10:E71.1|Orphanet:26|GARD:0003579|DC:0000274|MESH:C537359	ordo_disease|gard_rare	combined defect in adenosylcobalamin and methylcobalamin synthesis|methylmalonic aciduria with homocystinuria|methylmalonic acidemia and homocystinemia	http://purl.obolibrary.org/obo/MONDO_0016826	Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ).	MESH:C537359|ORPHA:26|UMLS:C1848561
HGNC:13825	ASPSCR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13825		
MONDO:0016820	Moyamoya disease	biolink:Disease	mondo	MESH:D009072|COHD:378774|ICD9:437.5|SCTID:89142007|GARD:0007064|Orphanet:2573|DOID:13099|NCIT:C84895|ICD10:I67.5|UMLS:C0026654|OMIMPS:252350|MedDRA:10028047	ordo_disease	progressive intracranial arterial occlusion|MYMY|Moyamoya disease, secondary|Moyamoya disease, primary|idiopathic Moyamoya disease	http://purl.obolibrary.org/obo/MONDO_0016820	Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes.	DOID:13099|SNOMEDCT:89142007|MEDDRA:10028047|MESH:C536991|UMLS:C2931384|NCIT:C84895|MESH:D009072|ORPHA:2573|UMLS:C0026654
MONDO:0016821	shoulder and girdle defects-familial intellectual disability syndrome	biolink:Disease	mondo	UMLS:CN227007|GARD:0004860|ICD10:Q87.2|Orphanet:2580	ordo_malformation_syndrome	shoulder girdle defect mental retardation familial|shoulder girdle defect intellectual disability familial	http://purl.obolibrary.org/obo/MONDO_0016821		UMLS:CN227007|ORPHA:2580
MONDO:0016822	myalgia-eosinophilia syndrome associated with tryptophan	biolink:Disease	mondo	Orphanet:2582|ICD10:M35.8|MedDRA:10014952	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0016822	Myalgia-eosinophilia syndrome associated with tryptophan is a rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities.	UMLS:C1275050|MESH:D016603|MEDDRA:10014952|ORPHA:2582
MONDO:0004827	esophagus squamous cell papilloma	biolink:Disease	mondo	DOID:959|UMLS:C1333467|NCIT:C5344		squamous cell papilloma of the esophagus|squamous cell papilloma of esophagus|esophageal squamous papilloma|esophagus squamous papilloma|esophagus squamous cell papilloma	http://purl.obolibrary.org/obo/MONDO_0004827	A rare neoplasm arising from the distal third of the esophagus. Morphologically, it is characterized by the presence of fibrovascular cores covered by mature stratified squamous epithelium. Progression to squamous cell carcinoma is extremely rare.	UMLS:C1333467|DOID:959|NCIT:C5344
MONDO:0004826	urethral calculus	biolink:Disease	mondo	SCTID:20342001|ICD10:N21.1|ICD9:594.2|DOID:9589|UMLS:C0162301		urolithiasis of urethra|urethral Stone|urethra urolithiasis	http://purl.obolibrary.org/obo/MONDO_0004826	A concretion in the urethra.	UMLS:C0162301|DOID:9589|NCIT:C26995|SNOMEDCT:20342001
MONDO:0004829	Krukenberg carcinoma	biolink:Disease	mondo	NCIT:C3153|UMLS:C0022790|MESH:D007725|SCTID:359987004|GARD:0008627|DOID:9597|EFO:1000316		Krukenberg tumor|Krukenberg’s tumor|Krukenberg neoplasm	http://purl.obolibrary.org/obo/MONDO_0004829	Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast.	MESH:D007725|DOID:9597|UMLS:C0022790|SNOMEDCT:359987004|NCIT:C3153
MONDO:0004828	lower urinary tract calculus	biolink:Disease	mondo	COHD:197028|DOID:9590|ICD9:594|ICD9:594.9|ICD9:594.8|SCTID:79509009|ICD10:N21|ICD10:N21.9|UMLS:C0156264		urolithiasis of lower urinary tract|lower urinary tract urolithiasis	http://purl.obolibrary.org/obo/MONDO_0004828	A urolithiasis that involves the lower urinary tract.	UMLS:C0156264|SNOMEDCT:79509009|DOID:9590
MONDO:0004845	aphthous stomatitis	biolink:Disease	mondo	GARD:0005834|DOID:9663|ICD9:528.2	gard_rare	aphthous ulceration|oral ulcer|oral aphthous ulcer|oral aphthae|aphtha|canker sore	http://purl.obolibrary.org/obo/MONDO_0004845	A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring.	DOID:9663
MONDO:0004844	oral mucosa leukoplakia	biolink:Disease	mondo	SCTID:414603003|NCIT:C3187|GARD:0007260|UMLS:C0023532|MESH:D007972|DOID:9655|COHD:138466|ICD9:528.6|ICD10:K13.21|ICD10:K13.2		leukokeratosis of oral mucosa|leukoplakia of the oral mucosa|leukoplakia of oral mucosa|oral leukoplakia|oral keratoses|oral keratosis	http://purl.obolibrary.org/obo/MONDO_0004844	A white patch or plaque on the oral mucosa that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition.	MESH:D007972|UMLS:C0023532|SNOMEDCT:414603003|DOID:9655|NCIT:C3187
MONDO:0004847	senile cataract	biolink:Disease	mondo	DOID:9669|ICD9:366.1|ICD10:H25|ICD9:366.10|SCTID:39450006|NCIT:C35012			http://purl.obolibrary.org/obo/MONDO_0004847	A cataract with no obvious cause occurring in persons over 50 years old.	SNOMEDCT:39450006|DOID:9669|NCIT:C35012
MONDO:0004846	placental abruption (disease)	biolink:Disease	mondo	NCIT:C26685|ICD10:O20.0|DOID:9667|ICD9:640.03|ICD9:640.0|MESH:D000037|EFO:1001754|HP:0011419|ICD9:641.20|SCTID:415105001		placental abruption|Abruptio placentae, premature separation of placenta|abruptio placenta|abruptio placentae|premature separation of placenta	http://purl.obolibrary.org/obo/MONDO_0004846	Vaginal bleeding preceding the 20th week of gestation.	SNOMEDCT:415105001|NCIT:C26685|DOID:9667|NCIT:C112857|MESH:D000037
MONDO:0004841	kidney hypertrophy	biolink:Disease	mondo	ICD9:593.1|DOID:9622|SCTID:88531004|COHD:192686|NCIT:C122991|UMLS:C0156259|ICD10:N28.81		renal Hypertrophy|hypertrophy of the kidney	http://purl.obolibrary.org/obo/MONDO_0004841	Global enlargement of the renal parenchyma in one or both kidneys.	UMLS:C0156259|DOID:9622|SNOMEDCT:88531004|NCIT:C122991
HGNC:25815	CEP63	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25815		
MONDO:0004840	non-congenital cyst of kidney	biolink:Disease	mondo	DOID:9621|ICD9:593.2|ICD10:N28.1|UMLS:C0268799|SCTID:105999006			http://purl.obolibrary.org/obo/MONDO_0004840		DOID:9621|SNOMEDCT:105999006|UMLS:C0268799
MONDO:0004843	pathologic nystagmus	biolink:Disease	mondo	ICD10:H55.0|MESH:D009759|ICD10:H55.00|DOID:9650|ICD9:379.50|UMLS:C0028738			http://purl.obolibrary.org/obo/MONDO_0004843	Involuntary movements of the eyeballs. The presence or absence of nystagmus is often used in the diagnosis of a variety of neurological and visual disorders.	DOID:9650|NCIT:C3282|UMLS:C0028738|MESH:D009759
MONDO:0004842	stomatitis	biolink:Disease	mondo	DOID:9637|MESH:D013280|ICD9:528.0|UMLS:C1568868|EFO:1001904|SCTID:61170000|ICD10:K12.1|COHD:138455|ICD9:528.00|NCIT:C26887|UMLS:C0038362		oral mucositis|inflammation of mouth mucosa|mouth mucosa inflammation|mucositis oral	http://purl.obolibrary.org/obo/MONDO_0004842	Inflammation of the oral mucosa due to local or systemic factors.	SNOMEDCT:61170000|NCIT:C26887|DOID:9637|MESH:D013280|UMLS:C0038362|UMLS:C1568868
HGNC:25812	SRD5A3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25812		
MONDO:0016809	spinocerebellar ataxia with epilepsy	biolink:Disease	mondo	UMLS:CN202060|UMLS:C1843852|Orphanet:254881	ordo_disease	SCAE|MSCAE|mitochondrial spinocerebellar ataxia with epilepsy	http://purl.obolibrary.org/obo/MONDO_0016809		UMLS:CN202060|UMLS:C1843852|ORPHA:254881
UBERON:0013686	anatomical conduit space	biolink:AnatomicalEntity	mondo			foramen space	http://purl.obolibrary.org/obo/UBERON_0013686	An anatomical space which is the lumen of some anatomical conduit and connects two or more spaces together[FMA,modified].	
UBERON:0013687	pericranium	biolink:AnatomicalEntity	mondo			periosteum externum cranii	http://purl.obolibrary.org/obo/UBERON_0013687	Periosteum that is part of a skull.	
NCBITaxon:85604	Amphiesmenoptera	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_85604		
UBERON:0013689	appendix lymphoid tissue	biolink:AnatomicalEntity	mondo			lymphatic tissue of appendix|lymphatic tissue of vermiform appendix|appendix lymphoid	http://purl.obolibrary.org/obo/UBERON_0013689	Lymphoid tissue located in the appendix.	
MONDO:0016805	isolated oxidative phosphorylation complex disorder	biolink:Disease	mondo	UMLS:CN227005|Orphanet:254846	ordo_group_of_disorders	isolated respiratory chain complex disorder	http://purl.obolibrary.org/obo/MONDO_0016805		ORPHA:254846|UMLS:CN227005
MONDO:0016806	maternally-inherited mitochondrial dystonia	biolink:Disease	mondo	ICD10:G24.8|UMLS:C4274074|Orphanet:254851|SCTID:717054001	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016806	Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity.	ORPHA:254851|SNOMEDCT:717054001|UMLS:C4274074
MONDO:0016807	pure mitochondrial myopathy	biolink:Disease	mondo	ICD10:G71.3|Orphanet:254854|UMLS:C4517289|SCTID:732245008	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016807	Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes.	UMLS:C4517289|SNOMEDCT:732245008|ORPHA:254854
MONDO:0016808	mitochondrial DNA depletion syndrome, hepatocerebral form	biolink:Disease	mondo	UMLS:CN069134|Orphanet:254871|UMLS:C3711385|MESH:C580039	ordo_group_of_disorders	deoxyguanosine kinase deficiency|mtDNA depletion syndrome, hepatocerebral form	http://purl.obolibrary.org/obo/MONDO_0016808		UMLS:CN069134|UMLS:C3711385|ORPHA:254871|MESH:C580039
UBERON:0013685	foramen of skull	biolink:AnatomicalEntity	mondo			cranial foramen|cranial conduit|foramina of the skull|foramen of skull	http://purl.obolibrary.org/obo/UBERON_0013685	Anatomical space that is an opening in a bone of the skull.	
HGNC:13829	WNT10A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13829		
MONDO:0016812	dopa-responsive dystonia	biolink:Disease	mondo	MESH:C538007|NCIT:C116719|ICD10:G24.8|Orphanet:255|GARD:0009817|UMLS:C1851920|SCTID:230332007	ordo_group_of_disorders	DYT5|DYT-GCH1 (subtype)|DYT-TH (subtype)|Segawa's disease|DYT5 dystonia|hereditary progressive dystonia with diurnal fluctuation|DYT-SPR (subtype)|HPD with diurnal fluctuation	http://purl.obolibrary.org/obo/MONDO_0016812	Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency.	ORPHA:255|NCIT:C116719|SNOMEDCT:230332007|MESH:C538007|UMLS:C1851920
MONDO:0016813	obsolete microsporidiosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016813		
MONDO:0016814	maternally-inherited Leigh syndrome	biolink:Disease	mondo	SCTID:717052002|GARD:0003671|Orphanet:255210|MESH:C536035|ICD10:G31.8	ordo_disease	maternally-inherited Leigh disease|Leigh disease, maternally inherited|MILS|Subacute necrotizing encephalomyelopathy maternally inherited|mitochondrial DNA-associated Leigh syndrome|maternally inherited Leigh syndrome|maternally-inherited infantile subacute necrotizing encephalopathy	http://purl.obolibrary.org/obo/MONDO_0016814	Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.	ORPHA:255210|MESH:C536035|UMLS:C2931092|SNOMEDCT:717052002
MONDO:0016815	Leigh syndrome with leukodystrophy	biolink:Disease	mondo	Orphanet:255241|UMLS:CN202083|ICD10:G31.8	ordo_disease	infantile subacute necrotizing encephalopathy with leukodystrophy|Leigh disease with leukodystrophy	http://purl.obolibrary.org/obo/MONDO_0016815		ORPHA:255241|UMLS:CN202083
HGNC:13830	CNTNAP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13830		
MONDO:0016810	autosomal recessive progressive external ophthalmoplegia	biolink:Disease	mondo	MESH:C564926|ICD10:H49.4|Orphanet:254886	ordo_disease	progressive external ophthalmoplegia, autosomal recessive|arPEO	http://purl.obolibrary.org/obo/MONDO_0016810	Autosomal recessive form of progressive external ophthalmoplegia.	ORPHA:254886|MESH:C564926
HGNC:13831	WDR11	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13831		
MONDO:0016811	renal tubulopathy-encephalopathy-liver failure syndrome	biolink:Disease	mondo	UMLS:CN202065|ICD10:E88.8|Orphanet:254902	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016811	Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in Gracile syndrome and that can be associated with encephalopathy and psychiatric disorders.	ORPHA:254902|UMLS:CN202065
HGNC:25808	FAM161A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25808		
MONDO:0004838	orthostatic proteinuria	biolink:Disease	mondo	COHD:74080|DOID:9617|UMLS:C0232867|ICD10:R80.2|ICD9:593.6		postural albuminuria	http://purl.obolibrary.org/obo/MONDO_0004838		DOID:9617|UMLS:C0232867
MONDO:0004837	neurofibroma of the esophagus	biolink:Disease	mondo	DOID:961|NCIT:C5704|UMLS:C1333463		neurofibroma of the esophagus|esophagus neurofibroma|neurofibroma of esophagus|esophageal neurofibroma	http://purl.obolibrary.org/obo/MONDO_0004837	A non-metastasizing encapsulated neoplasm arising from nerves in the esophagus. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells.	DOID:961|NCIT:C5704|UMLS:C1333463
MONDO:0004839	obsolete neurofibroma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004839		
MONDO:0004812	acute dacryoadenitis	biolink:Disease	mondo	ICD10:H04.01|SCTID:2589008|ICD9:375.01|DOID:952|UMLS:C0149505|COHD:372636		dacryoadenitis, acute	http://purl.obolibrary.org/obo/MONDO_0004812	Acute form of dacryoadenitis.	DOID:952|SNOMEDCT:2589008|UMLS:C0149505
MONDO:0004811	simple chronic conjunctivitis	biolink:Disease	mondo	COHD:379816|ICD9:372.11|SCTID:8211008|DOID:9512|ICD10:H10.42|UMLS:C0155146			http://purl.obolibrary.org/obo/MONDO_0004811		UMLS:C0155146|DOID:9512|SNOMEDCT:8211008
MONDO:0004814	obsolete vascular skin disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004814		
MONDO:0004813	tuberculous pneumothorax	biolink:Disease	mondo	ICD9:011.76|COHD:252235|ICD9:011.73|ICD9:011.72|ICD9:011.7|ICD9:011.71|UMLS:C0152600|DOID:9534|SCTID:29731002|ICD10:A15.0|ICD9:011.70			http://purl.obolibrary.org/obo/MONDO_0004813	A pneumothorax in which air enters into the pleural cavity.	UMLS:C0152600|SNOMEDCT:29731002|DOID:9534
CHEBI:26605	saponin	biolink:ChemicalSubstance	mondo			sapogenin glycosides|sapogenin glycoside|saponins	http://purl.obolibrary.org/obo/CHEBI_26605	A glycoside that is a compound containing one or more hydrophilic glycoside moieties combined with a lipophilic triterpenoid or steroid derivative. Found in particular abundance in plant species.	
MONDO:0004810	acute ethmoiditis	biolink:Disease	mondo	DOID:9506|COHD:141056|ICD10:J01.20|ICD10:J01.2|SCTID:67832005|ICD9:461.2|UMLS:C0155806		ethmoidal sinus - acute|acute ethmoid sinusitis|acute ethmoidal sinusitis|ethmoid sinusitis, acute	http://purl.obolibrary.org/obo/MONDO_0004810	Acute form of ethmoid sinusitis.	SNOMEDCT:67832005|UMLS:C0155806|DOID:9506
MONDO:0016801	mitochondrial substrate carrier disorder	biolink:Disease	mondo	Orphanet:254830|UMLS:CN227002	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016801		ORPHA:254830|UMLS:CN227002
MONDO:0016802	mitochondrial protein import disorder	biolink:Disease	mondo	UMLS:CN227003|Orphanet:254834	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016802		ORPHA:254834|UMLS:CN227003
UBERON:0001691	external ear	biolink:AnatomicalEntity	mondo			auricular region of head|auricular region|auris externa|outer ear	http://purl.obolibrary.org/obo/UBERON_0001691	Part of the ear external to the tympanum (eardrum). It typically consists of a tube (the external auditory meatus) that directs sound waves on to the tympanum, and may also include the external pinna, which extends beyond the skull[GO].	
MONDO:0016803	unspecified inborn mitochondrial disorder	biolink:Disease	mondo	UMLS:CN227004|Orphanet:254837	ordo_group_of_disorders	unspecified mitochondrial disorder	http://purl.obolibrary.org/obo/MONDO_0016803		ORPHA:254837|UMLS:CN227004
MONDO:0016804	obsolete exercise intolerance with lactic acidosis	biolink:Disease	mondo	Orphanet:254843	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016804		ORPHA:254843
UBERON:0001690	ear	biolink:AnatomicalEntity	mondo			auditory apparatus|auris	http://purl.obolibrary.org/obo/UBERON_0001690	Sense organ in vertebrates that is specialized for the detection of sound, and the maintenance of balance. Includes the outer ear and middle ear, which collect and transmit sound waves; and the inner ear, which contains the organs of balance and (except in fish) hearing. Also includes the pinna, the visible part of the outer ear, present in some mammals.	
GO:0048729	tissue morphogenesis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0048729	The process in which the anatomical structures of a tissue are generated and organized.	
GO:0061702	inflammasome complex	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0061702	A cytosolic protein complex that is capable of activating caspase-1.	
MONDO:0016800	mitochondrial membrane transport disorder	biolink:Disease	mondo	UMLS:CN227001|Orphanet:254827	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016800		ORPHA:254827|UMLS:CN227001
UBERON:0001697	orbit of skull	biolink:AnatomicalEntity	mondo			eye socket|bony orbit|orbit of skull|orbit	http://purl.obolibrary.org/obo/UBERON_0001697	Subdivision of skeleton that is an anterolateral part of the cranium and structurally supports the eye. Includes bones formed and located in sclerotic layer of eyeball.	
MONDO:0004809	obsolete cannabis abuse	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004809		
MONDO:0004808	benign mammary dysplasia	biolink:Disease	mondo	COHD:78200|SCTID:57993004|ICD9:610.9|ICD9:610.8|DOID:9504		benign mammary dysplasia|benign dysplasia of breast	http://purl.obolibrary.org/obo/MONDO_0004808		DOID:9504|SNOMEDCT:57993004
MONDO:0004805	leukocyte disease	biolink:Disease	mondo	UMLS:C0023510|ICD9:288.9|MESH:D007960|SCTID:54097007|ICD10:D72.9|DOID:9500|ICD9:288		leukocyte disorder|disorder of leukocyte|leukocyte disease|disease or disorder of leukocyte|disorder, leukocyte|white blood cell disorder|disease of leukocyte|disorders, leukocyte|leukocyte disease or disorder|disorder of leukocyte	http://purl.obolibrary.org/obo/MONDO_0004805	A disease involving leukocytes.	SNOMEDCT:54097007|MESH:D007960|UMLS:C0023510|DOID:9500
CHEBI:26606	sapogenin	biolink:ChemicalSubstance	mondo			sapogenin|sapogenins	http://purl.obolibrary.org/obo/CHEBI_26606	Any organic polycyclic compound that is the aglycon moiety of a saponin; sapogenins may be steroids or triterpenoids.	
MONDO:0004804	dacryoadenitis	biolink:Disease	mondo	ICD10:H04.00|UMLS:C0155223|NCIT:C26971|ICD10:H04.0|SCTID:86927009|ICD9:375.00|COHD:381858|ICD9:375.0|DOID:950		inflammation of lacrimal gland|lacrimal gland inflammation	http://purl.obolibrary.org/obo/MONDO_0004804	Inflammation and enlargement of the lacrimal gland.	NCIT:C26971|SNOMEDCT:86927009|DOID:950|UMLS:C0155223
CHEBI:26607	saturated fatty acid	biolink:ChemicalSubstance	mondo			SFAs|saturated fatty acid|SFA|saturated fatty acids	http://purl.obolibrary.org/obo/CHEBI_26607	Any fatty acid containing no carbon to carbon multiple bonds. Known to produce adverse biological effects when ingested to excess.	
MONDO:0004807	obsolete Loeffler syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004807		
MONDO:0004806	chronic eosinophilic pneumonia	biolink:Disease	mondo	SCTID:233692000|NCIT:C34471|DOID:9502		cryptogenic pulmonary eosinophilia|eosinophilic pneumonia, chronic	http://purl.obolibrary.org/obo/MONDO_0004806	Chronic inflammatory disorder of the lungs characterized by the presence of eosinophils in the interalveolar septa and alveolar spaces and peripheral blood eosinophilia. Chest x-rays reveal peripheral infiltrates. Approximately half of the patients have history of asthma or atopic disease. Signs and symptoms include fever, dyspnea, cough, and weight loss. Following treatment with corticosteroids, the eosinophilic infiltrates in the lungs disappear, resulting in dramatic clinical improvement.	SNOMEDCT:233692000|NCIT:C34471|DOID:9502
HP:0008496	Multiple rows of eyelashes	biolink:PhenotypicFeature	mondo	UMLS:C0423848|SNOMEDCT_US:95339000|UMLS:C3550336		Two rows of eyelashes|Extra rows of eyelashes|Multiple rows of eyelashes|Double row of eyelashes	http://purl.obolibrary.org/obo/HP_0008496		
UBERON:0001694	petrous part of temporal bone	biolink:AnatomicalEntity	mondo			petromastoid part of temporal bone|pars petrosa (os temporale)|petrosal bone|pars petrosa ossis temporalis|temporal bone petrous part|petrosal|petrous bone	http://purl.obolibrary.org/obo/UBERON_0001694	The petrous portion of the temporal bone or pyramid is pyramidal and is wedged in at the base of the skull between the sphenoid and occipital bones. Directed medially, forward, and a little upward, it presents for examination a base, an apex, three surfaces, and three angles, and contains, in its interior, the essential parts of the organ of hearing. The petrous portion is among the most basal elements of the skull and forms part of the endocranium.[WP,unvetted].	
MONDO:0004823	obsolete dextrocardia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004823		
MONDO:0004822	bronchiectasis	biolink:Disease	mondo	COHD:256449|ICD10:J47|ICD9:494|SCTID:12295008|ICD10:J47.9|UMLS:C0006267|DOID:9563|MESH:D001987|OMIMPS:211400|NCIT:C84475		Polynesian bronchiectasis	http://purl.obolibrary.org/obo/MONDO_0004822	Segmental, irreversible dilation of the bronchial tree resulting in the accumulation of secretions which leads to obstruction. The most common cause is bacterial infection.	MESH:D001987|UMLS:C0006267|SNOMEDCT:12295008|NCIT:C84475|DOID:9563
NCBITaxon:58023	Tracheophyta	organism taxon	mondo	GC_ID:1		vascular plants|vascular plants	http://purl.obolibrary.org/obo/NCBITaxon_58023		
NCBITaxon:58024	Spermatophyta	organism taxon	mondo	GC_ID:1		seed plants|seed plants	http://purl.obolibrary.org/obo/NCBITaxon_58024		
MONDO:0004825	obsolete encephalitis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004825		
MONDO:0004824	neonatal candidiasis	biolink:Disease	mondo	ICD10:P37.5|NCIT:C116810|COHD:440840|SCTID:414821002|UMLS:C0276682|DOID:9577|ICD9:771.7		neonatal Monilia infection|neonatal candida infection|neonatal Candida infection|neonatal moniliasis	http://purl.obolibrary.org/obo/MONDO_0004824	A fungal infection by any of the Candida species in a newborn infant up to 28 days old.	SNOMEDCT:414821002|NCIT:C116810|UMLS:C0276682|DOID:9577
UBERON:0001679	ethmoid bone	biolink:AnatomicalEntity	mondo			ethmoid|ethmoidal bone|os ethmoidale	http://purl.obolibrary.org/obo/UBERON_0001679	A bone in the skull that separates the nasal cavity from the brain. As such, it is located at the roof of the nose, between the two orbits. The cubical bone is lightweight due to a spongy construction. The ethmoid bone is one of the bones that makes up the orbit of the eye[WP]	
UBERON:0001678	temporal bone	biolink:AnatomicalEntity	mondo			os temporale	http://purl.obolibrary.org/obo/UBERON_0001678	the large, irregular bone located at the base and side of the skull; consists of three parts at birth: squamous, tympanic, and petrous	
MONDO:0004821	nasopharyngeal disease	biolink:Disease	mondo	NCIT:C35723|UMLS:C0027438|SCTID:123952009|MESH:D009302|DOID:9561		disorder of nasopharynx|nasopharyngeal disorder|nasopharynx disease|disorder of nasopharynx|disease or disorder of nasopharynx|disease of nasopharynx|disorder of postnasal space|nasopharynx disease or disorder	http://purl.obolibrary.org/obo/MONDO_0004821	A non-neoplastic or neoplastic disorder that affects the nasopharynx. Representative examples include nasopharyngitis, angiofibroma, and carcinoma.	MESH:D009302|NCIT:C35723|DOID:9561|SNOMEDCT:123952009|UMLS:C0027438
MONDO:0004820	peripheral nerve schwannoma	biolink:Disease	mondo	DOID:956|UMLS:C1519001|NCIT:C41430		peripheral nerve schwannoma	http://purl.obolibrary.org/obo/MONDO_0004820	A benign, usually encapsulated slow growing tumor of the peripheral nervous system composed of Schwann cells. It recurs infrequently and only rare cases associated with malignant transformation have been reported.	UMLS:C1519001|DOID:956|NCIT:C41430
GO:0048732	gland development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0048732	The process whose specific outcome is the progression of a gland over time, from its formation to the mature structure. A gland is an organ specialised for secretion.	
GO:0048731	system development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0048731	The process whose specific outcome is the progression of an organismal system over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process.	
UBERON:0011004	pharyngeal arch cartilage	biolink:AnatomicalEntity	mondo			splanchnocranium cartilage|pharyngeal arch cartilages	http://purl.obolibrary.org/obo/UBERON_0011004	A cartilage element that is part of a splanchnocranium.	
HGNC:13806	NEUROG3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13806		
GO:0048738	cardiac muscle tissue development	biolink:OntologyClass	mondo			heart muscle development	http://purl.obolibrary.org/obo/GO_0048738	The process whose specific outcome is the progression of cardiac muscle over time, from its formation to the mature structure.	
UBERON:0001686	auditory ossicle bone	biolink:AnatomicalEntity	mondo			ear ossicle|ossicular chain|middle ear ossicle|ossicle of inner ear|auditory bone|ear bone|auditory ossicle|ossicle|ossicle of ear|ear ossicles|middle ear bone	http://purl.obolibrary.org/obo/UBERON_0001686	One of 3 small bones contained within the middle ear space and serve to transmit sounds from the air to the fluid-filled labyrinth. The absence of the auditory ossicles would constitute a moderate-to-severe hearing loss. The term 'ossicles' literally means 'tiny bones' and commonly refers to the auditory ossicles, though the term may refer to any small bone throughout the body. [WP,unvetted].	
MONDO:0004819	indolent plasma cell myeloma	biolink:Disease	mondo	NCIT:C7150|DOID:9550|SCTID:441313008|UMLS:C2049069		indolent plasma cell myeloma|indolent multiple myeloma|indolent myeloma	http://purl.obolibrary.org/obo/MONDO_0004819		NCIT:C7150|UMLS:C2049069|SNOMEDCT:441313008|DOID:9550
UBERON:0001685	hyoid bone	biolink:AnatomicalEntity	mondo			hyoideum|os hyoideum|hyoid bone|lingual bone|hyoid	http://purl.obolibrary.org/obo/UBERON_0001685	A horseshoe shaped bone situated in the anterior midline of the neck between the chin and the thyroid cartilage. The hyoid bone provides attachment to the muscles of the floor of the mouth and the tongue above, the larynx below, and the epiglottis and pharynx behind. [WP,modified].	
CL:0001082	immature innate lymphoid cell	biolink:Cell	mondo			immature ILC	http://purl.obolibrary.org/obo/CL_0001082	An innate lyphoid cell with an immature phenotype.	
MONDO:0004816	refractory plasma cell neoplasm	biolink:Disease	mondo	NCIT:C7813|UMLS:C0278620|DOID:9544		refractory plasma cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0004816	A plasma cell neoplasm that is resistant to treatment.	UMLS:C0278620|NCIT:C7813|DOID:9544
MONDO:0004815	osteosclerotic plasma cell myeloma	biolink:Disease	mondo	NCIT:C7765|SCTID:425657001|DOID:9541		osteosclerotic myeloma|osteosclerotic multiple myeloma|osteosclerotic plasma cell myeloma	http://purl.obolibrary.org/obo/MONDO_0004815	A plasma cell neoplasm associated with osteosclerotic and fibrotic changes in the bone trabeculae. Often, the lymph nodes show changes resembling the plasma cell variant of Castleman disease. It is often part of POEMS syndrome which is characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes.	SNOMEDCT:425657001|NCIT:C7765|DOID:9541
MONDO:0004818	obsolete benign neurilemmoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004818		
UBERON:0001684	mandible	biolink:AnatomicalEntity	mondo			mandibula|mandibulla|lower mandibula|lower jaw bone|mandibular series|mammaliam mandible|lower jaw|inferior maxillary bone	http://purl.obolibrary.org/obo/UBERON_0001684	A dentary bone that is the only bone in one of the lateral halves of the lower jaw skeleton.	
MONDO:0004817	non-secretory plasma cell myeloma	biolink:Disease	mondo	NCIT:C4734|UMLS:C3898125|DOID:9547|SCTID:277580004|UMLS:C0456845		non-functioning myeloma|non-secretory myeloma|non-secretory multiple myeloma|non-secreting myeloma|non-secretory plasma cell myeloma	http://purl.obolibrary.org/obo/MONDO_0004817	A rare type of multiple myeloma in which the plasma cells synthesize but do not secrete immunoglobulins. As a result, none of the immunoglobulins appear out of the normal range. The symptoms are generally the same with those of immunoglobulin-secreting myeloma; however, the incidence of renal insufficiency is lower in non-secretory myeloma. The diagnosis can be missed because of the absence of monoclonal immunoglobulin in the serum or urine.	NCIT:C4734|UMLS:C3898125|DOID:9547|UMLS:C0456845|SNOMEDCT:277580004
GO:0009135	purine nucleoside diphosphate metabolic process	biolink:OntologyClass	mondo			purine nucleoside diphosphate metabolism	http://purl.obolibrary.org/obo/GO_0009135	The chemical reactions and pathways involving purine nucleoside diphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with diphosphate on the sugar.	
GO:0009132	nucleoside diphosphate metabolic process	biolink:OntologyClass	mondo			nucleoside diphosphate metabolism	http://purl.obolibrary.org/obo/GO_0009132	The chemical reactions and pathways involving a nucleoside diphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with diphosphate on the sugar.	
GO:0009142	nucleoside triphosphate biosynthetic process	biolink:OntologyClass	mondo			nucleoside triphosphate anabolism|nucleoside triphosphate biosynthesis|nucleoside triphosphate synthesis|nucleoside triphosphate formation	http://purl.obolibrary.org/obo/GO_0009142	The chemical reactions and pathways resulting in the formation of a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar.	
GO:0009141	nucleoside triphosphate metabolic process	biolink:OntologyClass	mondo			nucleoside triphosphate metabolism	http://purl.obolibrary.org/obo/GO_0009141	The chemical reactions and pathways involving a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar.	
GO:1901293	nucleoside phosphate biosynthetic process	biolink:OntologyClass	mondo			nucleoside phosphate anabolism|nucleoside phosphate synthesis|nucleoside phosphate formation|nucleoside phosphate biosynthesis	http://purl.obolibrary.org/obo/GO_1901293	The chemical reactions and pathways resulting in the formation of a nucleoside phosphate.	
GO:1901292	nucleoside phosphate catabolic process	biolink:OntologyClass	mondo			nucleoside phosphate degradation|nucleoside phosphate breakdown|nucleoside phosphate catabolism	http://purl.obolibrary.org/obo/GO_1901292	The chemical reactions and pathways resulting in the breakdown of a nucleoside phosphate.	
GO:0071072	negative regulation of phospholipid biosynthetic process	biolink:OntologyClass	mondo			down regulation of phospholipid biosynthetic process|inhibition of phospholipid biosynthetic process|negative regulation of phospholipid synthesis|downregulation of phospholipid biosynthetic process|negative regulation of phospholipid formation|down-regulation of phospholipid biosynthetic process|negative regulation of phospholipid biosynthesis|negative regulation of phospholipid anabolism	http://purl.obolibrary.org/obo/GO_0071072	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phospholipids.	
GO:0071073	positive regulation of phospholipid biosynthetic process	biolink:OntologyClass	mondo			positive regulation of phospholipid anabolism|up-regulation of phospholipid biosynthetic process|positive regulation of phospholipid synthesis|up regulation of phospholipid biosynthetic process|positive regulation of phospholipid biosynthesis|activation of phospholipid biosynthetic process|positive regulation of phospholipid formation|stimulation of phospholipid biosynthetic process|upregulation of phospholipid biosynthetic process	http://purl.obolibrary.org/obo/GO_0071073	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phospholipids.	
GO:0071071	regulation of phospholipid biosynthetic process	biolink:OntologyClass	mondo			regulation of phospholipid formation|regulation of phospholipid biosynthesis|regulation of phospholipid anabolism|regulation of phospholipid synthesis	http://purl.obolibrary.org/obo/GO_0071071	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phospholipids.	
CHEBI:36080	protein	biolink:ChemicalSubstance	mondo			proteins	http://purl.obolibrary.org/obo/CHEBI_36080	A biological macromolecule minimally consisting of one polypeptide chain synthesized at the ribosome.	
GO:0009145	purine nucleoside triphosphate biosynthetic process	biolink:OntologyClass	mondo			purine nucleoside triphosphate anabolism|purine nucleoside triphosphate synthesis|purine nucleoside triphosphate biosynthesis|purine nucleoside triphosphate formation	http://purl.obolibrary.org/obo/GO_0009145	The chemical reactions and pathways resulting in the formation of purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar.	
GO:0009144	purine nucleoside triphosphate metabolic process	biolink:OntologyClass	mondo			purine nucleoside triphosphate metabolism	http://purl.obolibrary.org/obo/GO_0009144	The chemical reactions and pathways involving purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar.	
GO:0009152	purine ribonucleotide biosynthetic process	biolink:OntologyClass	mondo			purine ribonucleotide anabolism|purine ribonucleotide synthesis|purine ribonucleotide formation|purine ribonucleotide biosynthesis	http://purl.obolibrary.org/obo/GO_0009152	The chemical reactions and pathways resulting in the formation of a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar.	
GO:0009150	purine ribonucleotide metabolic process	biolink:OntologyClass	mondo			purine ribonucleotide metabolism	http://purl.obolibrary.org/obo/GO_0009150	The chemical reactions and pathways involving a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar.	
GO:0000781	chromosome, telomeric region	biolink:OntologyClass	mondo			nuclear chromosome, telomeric region|nuclear chromosome, telomere|telomere	http://purl.obolibrary.org/obo/GO_0000781	The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres).	
GO:0097690	iron ion transmembrane transporter inhibitor activity	biolink:OntologyClass	mondo			iron channel inhibitor activity	http://purl.obolibrary.org/obo/GO_0097690	An activity that stops, prevents, or reduces the activity of an iron ion transmembrane transporter.	
GO:0000785	chromatin	biolink:OntologyClass	mondo			chromosome scaffold|cytoplasmic chromatin|nuclear chromatin	http://purl.obolibrary.org/obo/GO_0000785	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.	
CHEBI:51689	enone	biolink:ChemicalSubstance	mondo			enones	http://purl.obolibrary.org/obo/CHEBI_51689	An alpha,beta-unsaturated ketone of general formula R(1)R(2)C=CR(3)-C(=O)R(4) (R(4) =/= H) in which the C=O function is conjugated to a C=C double bond at the alpha,beta position.	
GO:0000784		biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0000784		
GO:0009117	nucleotide metabolic process	biolink:OntologyClass	mondo			nucleotide metabolism	http://purl.obolibrary.org/obo/GO_0009117	The chemical reactions and pathways involving a nucleotide, a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic nucleotides (nucleoside cyclic phosphates).	
GO:0009112	nucleobase metabolic process	biolink:OntologyClass	mondo			nucleobase metabolism	http://purl.obolibrary.org/obo/GO_0009112	The chemical reactions and pathways involving a nucleobase, a nitrogenous base that is a constituent of a nucleic acid, e.g. the purines: adenine, guanine, hypoxanthine, xanthine and the pyrimidines: cytosine, uracil, thymine.	
GO:0009110	vitamin biosynthetic process	biolink:OntologyClass	mondo			vitamin anabolism|vitamin biosynthesis|vitamin synthesis|vitamin formation	http://purl.obolibrary.org/obo/GO_0009110	The chemical reactions and pathways resulting in the formation of a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body.	
CHEBI:36047	antibacterial drug	biolink:ChemicalSubstance	mondo			antibacterial drugs	http://purl.obolibrary.org/obo/CHEBI_36047	A drug used to treat or prevent bacterial infections.	
GO:0000789		biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0000789		
CHEBI:36043	antimicrobial drug	biolink:ChemicalSubstance	mondo			antimicrobial drugs	http://purl.obolibrary.org/obo/CHEBI_36043	A drug used to treat or prevent microbial infections.	
GO:0000792	heterochromatin	biolink:OntologyClass	mondo			nuclear heterochromatin	http://purl.obolibrary.org/obo/GO_0000792	A compact and highly condensed form of chromatin.	
GO:0000791	euchromatin	biolink:OntologyClass	mondo			nuclear euchromatin	http://purl.obolibrary.org/obo/GO_0000791	A dispersed and relatively uncompacted form of chromatin.	
GO:0009127	purine nucleoside monophosphate biosynthetic process	biolink:OntologyClass	mondo			purine nucleoside monophosphate anabolism|purine nucleoside monophosphate synthesis|purine nucleoside monophosphate formation|purine nucleoside monophosphate biosynthesis	http://purl.obolibrary.org/obo/GO_0009127	The chemical reactions and pathways resulting in the formation of purine nucleoside monophosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with phosphate on the sugar.	
GO:0009126	purine nucleoside monophosphate metabolic process	biolink:OntologyClass	mondo			purine nucleoside monophosphate metabolism	http://purl.obolibrary.org/obo/GO_0009126	The chemical reactions and pathways involving purine nucleoside monophosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with phosphate on the sugar.	
GO:0009124	nucleoside monophosphate biosynthetic process	biolink:OntologyClass	mondo			nucleoside monophosphate synthesis|nucleoside monophosphate biosynthesis|nucleoside monophosphate formation|nucleoside monophosphate anabolism	http://purl.obolibrary.org/obo/GO_0009124	The chemical reactions and pathways resulting in the formation of a nucleoside monophosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with phosphate on the sugar.	
GO:0000790		biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0000790		
GO:0009123	nucleoside monophosphate metabolic process	biolink:OntologyClass	mondo			nucleoside monophosphate metabolism	http://purl.obolibrary.org/obo/GO_0009123	The chemical reactions and pathways involving a nucleoside monophosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with phosphate on the sugar.	
CHEBI:36059	hydroxy monocarboxylic acid anion	biolink:ChemicalSubstance	mondo			hydroxy monocarboxylic acid anions|hydroxymonocarboxylic acid anion|hydroxymonocarboxylic acid anions	http://purl.obolibrary.org/obo/CHEBI_36059	Any monocarboxylic acid anion carrying at least one hydroxy substituent.	
CHEBI:36054	benzoate ester	biolink:ChemicalSubstance	mondo			benzoate esters|benzoic acid esters|benzoate ester	http://purl.obolibrary.org/obo/CHEBI_36054	Esters of benzoic acid or substituted benzoic acids.	
UBERON:0001628	posterior communicating artery	biolink:AnatomicalEntity	mondo			arteria cerebri communicans posterior|PCS|caudal communicating segment|posterior communicating segment of the basilar artery|PCA	http://purl.obolibrary.org/obo/UBERON_0001628	One of a pair of right-sided and left-sided blood vessels in the circle of Willis. It connects the three cerebral arteries of the same side. Anteriorly, it is one portion of the terminal trifurcation of the internal carotid artery. The anterior cerebral artery and the middle cerebral artery are the other two branches of the trifurcation. Posteriorly, it communicates with the posterior cerebral artery.	
UBERON:0001629	carotid body	biolink:AnatomicalEntity	mondo			carotid glomus|glomus caroticum	http://purl.obolibrary.org/obo/UBERON_0001629	A small epithelioid structure consisting of a small cluster of chemoreceptive and supporting cells located near the bifurcation of the common carotid artery that serves as a chemoreceptive organ that senses the pH, carbon dioxide, and oxygen concentrations in the blood and plays a crucial role in their homeostatic control.	
UBERON:0001630	muscle organ	biolink:AnatomicalEntity	mondo			muscle	http://purl.obolibrary.org/obo/UBERON_0001630	Organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work[GO].	
UBERON:0001633	basilar artery	biolink:AnatomicalEntity	mondo			BA	http://purl.obolibrary.org/obo/UBERON_0001633	A major artery that supplues the hindbrain and runs along the ventral keel of the hindbrain.	
UBERON:0001632	temporal artery	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0001632		
UBERON:0001616	maxillary artery	biolink:AnatomicalEntity	mondo			internal maxillary artery|arteria maxillaris	http://purl.obolibrary.org/obo/UBERON_0001616	An artery that supplies deep structures of the face. It comes just out behind the neck of the mandible. [WP,unvetted].	
UBERON:0001619	ophthalmic artery	biolink:AnatomicalEntity	mondo			opthalmic artery|arteria ophthalmica	http://purl.obolibrary.org/obo/UBERON_0001619	The ophthalmic artery is a branch of the internal carotid artery which supplies branches to supply the eye and other structures in the orbit. It enters the orbit together with the Optic nerve through the Optic foramen/canal. [WP,modified].	
UBERON:0001613	occipital artery	biolink:AnatomicalEntity	mondo			arteria occipitalis	http://purl.obolibrary.org/obo/UBERON_0001613	The occipital artery arises opposite the facial artery, its path is below the posterior belly of digastric to the occipital region. This artery supplies blood to the back of the scalp and sterno-mastoid muscles. Other muscles it supplies are deep muscles in the back and neck. [WP,unvetted].	
UBERON:0001612	facial artery	biolink:AnatomicalEntity	mondo			external maxillary artery|arteria maxillaris externa	http://purl.obolibrary.org/obo/UBERON_0001612	A branch of the external carotid artery that supplies structures of the face. [WP,unvetted].	
GO:0009108	obsolete coenzyme biosynthetic process	biolink:OntologyClass	mondo			coenzyme anabolism|coenzyme and prosthetic group biosynthetic process|coenzyme and prosthetic group biosynthesis|coenzyme biosynthesis|coenzyme synthesis|coenzyme formation	http://purl.obolibrary.org/obo/GO_0009108	OBSOLETE. The chemical reactions and pathways resulting in the formation of coenzymes, any of various nonprotein organic cofactors that are required, in addition to an enzyme and a substrate, for an enzymatic reaction to proceed.	
GO:0009107	lipoate biosynthetic process	biolink:OntologyClass	mondo			lipoate biosynthesis|lipoic acid biosynthetic process|lipoic acid biosynthesis|lipoic acid anabolism|lipoate anabolism|lipoic acid synthesis|lipoate synthesis|lipoic acid formation|lipoate formation	http://purl.obolibrary.org/obo/GO_0009107	The chemical reactions and pathways resulting in the formation of lipoate, 1,2-dithiolane-3-pentanoate, the anion derived from lipoic acid.	
GO:0009106	lipoate metabolic process	biolink:OntologyClass	mondo			lipoate metabolism|lipoic acid metabolism|lipoic acid metabolic process	http://purl.obolibrary.org/obo/GO_0009106	The chemical reactions and pathways involving lipoate, 1,2-dithiolane-3-pentanoate, the anion derived from lipoic acid.	
CHEBI:48001	protein synthesis inhibitor	biolink:ChemicalSubstance	mondo			protein synthesis inhibitors|protein synthesis antagonists|protein synthesis antagonist	http://purl.obolibrary.org/obo/CHEBI_48001	A compound, usually an anti-bacterial agent or a toxin, which inhibits the synthesis of a protein.	
GO:0009101	glycoprotein biosynthetic process	biolink:OntologyClass	mondo			glycoprotein anabolism|glycoprotein biosynthesis|glycoprotein synthesis|glycoprotein formation	http://purl.obolibrary.org/obo/GO_0009101	The chemical reactions and pathways resulting in the formation of glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide.	
GO:0009100	glycoprotein metabolic process	biolink:OntologyClass	mondo			glycoprotein metabolism	http://purl.obolibrary.org/obo/GO_0009100	The chemical reactions and pathways involving glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide.	
UBERON:0001620	central retinal artery	biolink:AnatomicalEntity	mondo			arteria centralis retinae|retinal artery|central artery of retina|central artery of the retina|Zinn's artery	http://purl.obolibrary.org/obo/UBERON_0001620	The central retinal artery (retinal artery) branches off the ophthalmic artery, running inferior to the optic nerve within its dural sheath to the eyeball. [WP,unvetted].	
UBERON:0001622	lacrimal artery	biolink:AnatomicalEntity	mondo			a. lacrimalis	http://purl.obolibrary.org/obo/UBERON_0001622	The lacrimal artery arises close to the optic foramen, and is one of the largest branches derived from the ophthalmic artery: not infrequently it is given off before the artery enters the orbit. It accompanies the lacrimal nerve along the upper border of the Lateral Rectus, supplies the lacrimal gland. [WP,unvetted].	
UBERON:0001621	coronary artery	biolink:AnatomicalEntity	mondo			coronary vessel|coronary arterial tree	http://purl.obolibrary.org/obo/UBERON_0001621	An artery that supplies the myocardium.	
UBERON:0001606	muscle of iris	biolink:AnatomicalEntity	mondo			iris muscle organ|iris muscle|muscle organ of iris	http://purl.obolibrary.org/obo/UBERON_0001606	.	
UBERON:0001605	ciliary muscle	biolink:AnatomicalEntity	mondo			Bowman`s muscles|musculus ciliaris|ciliaris|musculus ciliarus	http://purl.obolibrary.org/obo/UBERON_0001605	The ciliary muscle is a ring of smooth muscle in the middle layer of the eye that controls the eye's accommodation for viewing objects at varying distances and regulates the flow of aqueous humour through Schlemm's canal. [WP,unvetted].	
UBERON:0001608	dilatator pupillae	biolink:AnatomicalEntity	mondo			musculus dilator pupillae|pupillary dilator|pupillary muscle|iris dilator muscle|dilator muscle of pupil|pupil dilator muscle|musculus dilatator pupillae|radial muscle of iris|radial muscle|dilator pupillae muscle|iris dilator|pupillary dilator muscle|dilator of pupil|radiating fibers|dilator pupillae muscle|pupil dilator|dilator pupillae|musculus dilatator pupillae	http://purl.obolibrary.org/obo/UBERON_0001608	A smooth muscle of the eye, running radially in the iris that functions as a dilator. [WP,unvetted].	
UBERON:0001607	sphincter pupillae	biolink:AnatomicalEntity	mondo			M. sphincter pupillae|pupillary sphincter|circular fibers|sphincter muscle of pupil|iris sphincter muscle|constrictor pupillae|sphincter pupillae|m. sphincter pupillae|spincter pupillae|iris sphincter|iris constrictor|iris constrictor muscle|sphincter pupillae muscle|musculus sphincter pupillae|pupillary sphincter muscle|pupillary constrictor muscle	http://purl.obolibrary.org/obo/UBERON_0001607	A sphincter muscle that is part of the iris.	
UBERON:0001601	extra-ocular muscle	biolink:AnatomicalEntity	mondo			extrinsic muscle of eyeball|extrinsic ocular muscle|musculi externi bulbi oculi|extrinsic eye muscle|extraocular muscle|extraocular skeletal muscle|extraocular musculature|extra-ocular skeletal muscle	http://purl.obolibrary.org/obo/UBERON_0001601	Skeletal muscle derived from cranial mesoderm and controls eye movements.	
UBERON:0001604	levator palpebrae superioris	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0001604	The levator palpebrae superioris (or levator muscle of upper eyelid) is the muscle in the orbit that elevates the superior (upper) eyelid. [WP,unvetted].	
UBERON:0001611	sublingual artery	biolink:AnatomicalEntity	mondo			arteria sublingualis|sublingual branch of lingual artery	http://purl.obolibrary.org/obo/UBERON_0001611	A branch of the lingual artery that supplies the sublingual gland.	
UBERON:0001610	lingual artery	biolink:AnatomicalEntity	mondo			lingual branch of external carotid artery|arteria lingualis	http://purl.obolibrary.org/obo/UBERON_0001610	The lingual artery arises from the external carotid between the superior thyroid and facial artery[WP].	
CARO:0010000	multicellular anatomical structure	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/CARO_0010000		
MONDO:0002299	glomangioma	biolink:Disease	mondo	UMLS:C0334421|DOID:2436|ICDO:8712/0|NCIT:C4222		glomangioma	http://purl.obolibrary.org/obo/MONDO_0002299	A morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions.	DOID:2436|NCIT:C4222|UMLS:C0334421
MONDO:0014280	immunodeficiency 19	biolink:Disease	mondo	OMIM:615617|UMLS:C3810147|DOID:0060016		CD3D severe combined immunodeficiency (disease)|SCID, T cell-negative, B cell-positive, NK cell-positive|immunodeficiency 19|CD3delta deficiency|immunodeficiency 19; IMD19|CD3D|IMD19|severe combined immunodeficiency (disease) caused by mutation in CD3D|immunodeficiency type 19|CD3-Delta deficiency|severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive	http://purl.obolibrary.org/obo/MONDO_0014280	Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD3D gene.	http://identifiers.org/omim/615617|UMLS:C3810147|DOID:0060016
MONDO:0002295	skin glomus tumor	biolink:Disease	mondo	DOID:2430|UMLS:C0346083|SCTID:254795008|NCIT:C4491		glomus neoplasm of skin|glomus neoplasm of the skin|glomus skin tumor|glomus skin neoplasm|glomus tumor of skin|glomus tumor of the skin|skin glomus neoplasm|zone of skin glomus tumor	http://purl.obolibrary.org/obo/MONDO_0002295	A glomus tumor arising from the skin. It usually presents as a small red-blue nodule and it often associated with pain at the site.	SNOMEDCT:254795008|DOID:2430|NCIT:C4491|UMLS:C0346083
MONDO:0002296	obsolete glomus tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002296		
MONDO:0002297	epidermal appendage tumor	biolink:Disease	mondo	ICD9:239.2|SCTID:126489007|NCIT:C4463|UMLS:C0345988|DOID:2433		neoplasm of skin appendage|tumor of Epidermal appendage|neoplasm of cutaneous appendage|skin appendage tumor|cutaneous appendage tumor|neoplasm of the skin appendage|cutaneous appendage neoplasm|adnexal tumor of skin|skin appendage tumour|Epidermal appendage neoplasm|adnexal tumor of the skin|neoplasm of Epidermal appendage|tumor of cutaneous appendage|tumor of skin appendage|tumor of the skin appendage|Epidermal appendage tumor|cutaneous appendage neoplasm (disease)|cutaneous adnexal neoplasm|neoplasm of skin with adnexal differentiation|skin appendage neoplasm|adnexal neoplasm of skin|adnexal neoplasm of the skin	http://purl.obolibrary.org/obo/MONDO_0002297	A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands.	DOID:2433|NCIT:C4463|UMLS:C0345988|SNOMEDCT:126489007
MONDO:0002298	cutaneous glomangioma	biolink:Disease	mondo	SCTID:403970001|NCIT:C6750|DOID:2435|UMLS:C1275226		skin glomangioma|zone of skin glomangioma|cutaneous glomangioma|glomangioma of skin|glomangioma of the skin	http://purl.obolibrary.org/obo/MONDO_0002298	A glomus tumor arising from the skin. It is characterized by the presence of dilated veins surrounded by glomus cells.	UMLS:C1275226|DOID:2435|NCIT:C6750|SNOMEDCT:403970001
MONDO:0002291	cutaneous granular cell tumor	biolink:Disease	mondo	SCTID:254763007|UMLS:C0346060|ICD9:215.9|DOID:2410|NCIT:C5617		granular cell neoplasm of the skin|cutaneous granular cell tumor|skin granular cell neoplasm|granular cell tumor of skin|granular cell tumor of the skin|zone of skin granular cell tumor|skin granular cell tumor|cutaneous granular cell neoplasm|granular cell neoplasm of skin|granular cell skin tumor|granular cell tumor of zone of skin	http://purl.obolibrary.org/obo/MONDO_0002291	A granular cell tumor that involves the zone of skin.	NCIT:C5617|UMLS:C0346060|SNOMEDCT:254763007|DOID:2410
GO:1903862	positive regulation of oxidative phosphorylation	biolink:OntologyClass	mondo			up-regulation of respiratory-chain phosphorylation|up regulation of oxidative phosphorylation|activation of oxidative phosphorylation|up regulation of respiratory-chain phosphorylation|positive regulation of respiratory-chain phosphorylation|activation of respiratory-chain phosphorylation|upregulation of oxidative phosphorylation|upregulation of respiratory-chain phosphorylation|up-regulation of oxidative phosphorylation	http://purl.obolibrary.org/obo/GO_1903862	Any process that activates or increases the frequency, rate or extent of oxidative phosphorylation.	
MONDO:0002292	obsolete granular cell tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002292		
MONDO:0002293	cutaneous ganglioneuroma	biolink:Disease	mondo	NCIT:C4481|SCTID:254766004|UMLS:C0346063|DOID:2425		cutaneous ganglioneuroma|ganglioneuroma of skin|ganglioneuroma of the skin|skin ganglioneuroma	http://purl.obolibrary.org/obo/MONDO_0002293	A ganglioneuroma arising from the skin.	SNOMEDCT:254766004|DOID:2425|NCIT:C4481|UMLS:C0346063
MONDO:0002294	obsolete gangliocytoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002294		
MONDO:0002290	clitoris cancer	biolink:Disease	mondo	SCTID:371979001|ICD9:184.3|DOID:2401|NCIT:C3557|ICD10:C51.2|UMLS:C0153589		clitoral Ca|malignant neoplasm of clitoris|malignant clitoral neoplasm|malignant clitoral tumor|malignant neoplasm of the clitoris|malignant clitoris tumor|clitoral cancer|clitoris cancer|cancer of clitoris|malignant tumor of clitoris|malignant tumor of the clitoris|malignant clitoris neoplasm|carcinoma of clitoris	http://purl.obolibrary.org/obo/MONDO_0002290	A malignant neoplasm that affects the clitoris.	UMLS:C0153589|NCIT:C3557|SNOMEDCT:371979001|DOID:2401
MONDO:0014289	macrocephaly-developmental delay syndrome	biolink:Disease	mondo	Orphanet:397612|OMIM:615637|UMLS:C3810225|ICD10:Q75.3	ordo_malformation_syndrome	intellectual disability, autosomal recessive 41|mental retardation, autosomal recessive type 41|mental retardation, autosomal recessive 41|mental retardation, autosomal recessive 41; MRT41|MRT41|intellectual disability, autosomal recessive type 41|intellectual disability, autosomal recessive 41; MRT41	http://purl.obolibrary.org/obo/MONDO_0014289	Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegally.	ORPHA:397612|http://identifiers.org/omim/615637|UMLS:C3810225
MONDO:0014284	short-rib thoracic dysplasia 10 with or without polydactyly	biolink:Disease	mondo	UMLS:C3810175|ICD10:Q87.5|ICD10:Q77.2|OMIM:615630|DOID:0110091		short-rib thoracic dysplasia 10 with or without polydactyly; SRTD10|SRTD10|short-rib thoracic dysplasia 10 with or without polydactyly	http://purl.obolibrary.org/obo/MONDO_0014284	An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23.	http://identifiers.org/omim/615630|UMLS:C3810175|DOID:0110091
MONDO:0014283	autosomal dominant nonsyndromic deafness 56	biolink:Disease	mondo	ICD10:H90.3|UMLS:C3810170|DOID:0110581|OMIM:615629		deafness, autosomal dominant 56; DFNA56|deafness, autosomal dominant 56|DFNA56|deafness, autosomal dominant type 56|TNC autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness type 56|autosomal dominant nonsyndromic deafness caused by mutation in TNC|autosomal dominant deafness 56	http://purl.obolibrary.org/obo/MONDO_0014283	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TNC gene.	UMLS:C3810170|http://identifiers.org/omim/615629|DOID:0110581
MONDO:0014282	hereditary spastic paraplegia 72	biolink:Disease	mondo	Orphanet:401849|DOID:0110817|ICD10:G11.4|OMIM:615625|UMLS:C3810160	ordo_inheritance_inconsistent|ordo_disease	spastic paraplegia 72, autosomal dominant|hereditary spastic paraplegia type 72|spastic paraplegia 72, autosomal recessive; SPG72|autosomal spastic paraplegia type 72|pure hereditary spastic paraplegia caused by mutation in REEP2|SPG72|REEP2 pure hereditary spastic paraplegia|spastic paraplegia 72, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0014282	Any pure hereditary spastic paraplegia in which the cause of the disease is a mutation in the REEP2 gene.	DOID:0110817|http://identifiers.org/omim/615625|UMLS:C3810160|ORPHA:401849
MONDO:0014281	cholangiocarcinoma, susceptibility to	biolink:Disease	mondo	OMIM:615619	predisposition	Chlc, susceptibility to|cholangiocarcinoma, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0014281		http://identifiers.org/omim/615619
MONDO:0014288	Joubert syndrome 21	biolink:Disease	mondo	OMIM:615636|DOID:0110990|UMLS:C3810212		Joubert syndrome 21|CSPP1 Joubert syndrome|JBTS21|Joubert syndrome caused by mutation in CSPP1|Joubert syndrome 21; JBTS21|Joubert syndrome type 21	http://purl.obolibrary.org/obo/MONDO_0014288	Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene.	DOID:0110990|UMLS:C3810212|http://identifiers.org/omim/615636
MONDO:0014287	short-rib thoracic dysplasia 11 with or without polydactyly	biolink:Disease	mondo	UMLS:C3810200|OMIM:615633|DOID:0110095|ICD10:Q77.2		short-rib thoracic dysplasia 11 with or without polydactyly|SRTD11|short-rib thoracic dysplasia 11 with or without polydactyly; SRTD11	http://purl.obolibrary.org/obo/MONDO_0014287	An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34.	http://identifiers.org/omim/615633|UMLS:C3810200|DOID:0110095
MONDO:0014286	neuropathy, hereditary sensory, type 1F	biolink:Disease	mondo	DOID:0070154|UMLS:C3810194|OMIM:615632		HSN 1F|HSN1F|hereditary sensory and autonomic neuropathy type 1 caused by mutation in ATL3|ATL3 hereditary sensory and autonomic neuropathy type 1|hereditary sensory neuropathy type 1F|neuropathy, hereditary sensory, type IF; HSN1F|hereditary sensory neuropathy type IF|neuropathy, hereditary sensory, type IF	http://purl.obolibrary.org/obo/MONDO_0014286	Any hereditary sensory and autonomic neuropathy type 1 in which the cause of the disease is a mutation in the ATL3 gene.	http://identifiers.org/omim/615632|UMLS:C3810194|DOID:0070154
MONDO:0014285	congenital dyserythropoietic anemia type type 1B	biolink:Disease	mondo	OMIM:615631|DOID:0111397|UMLS:C3810185		anemia, congenital dyserythropoietic, type IB|CDA, type IB|CDAN1B|anemia, congenital dyserythropoietic, type IB; CDAN1B	http://purl.obolibrary.org/obo/MONDO_0014285		UMLS:C3810185|http://identifiers.org/omim/615631|DOID:0111397
NCBITaxon:12721	Human immunodeficiency virus	organism taxon	mondo	GC_ID:1		AIDS virus|HIV	http://purl.obolibrary.org/obo/NCBITaxon_12721		
GO:1901213	regulation of transcription from RNA polymerase II promoter involved in heart development	biolink:OntologyClass	mondo			regulation of transcription from RNA polymerase II promoter involved in cardiac development|regulation of global transcription from Pol II promoter involved in dorsal vessel development|regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|regulation of gene-specific transcription from RNA polymerase II promoter involved in dorsal vessel development|global transcription regulation from Pol II promoter involved in cardiac development|regulation of transcription from RNA polymerase II promoter, global involved in dorsal vessel development|regulation of gene-specific transcription from RNA polymerase II promoter involved in cardiac development|regulation of global transcription from Pol II promoter involved in cardiac development|global transcription regulation from Pol II promoter involved in heart development|regulation of transcription from RNA polymerase II promoter, global involved in cardiac development|regulation of gene-specific transcription from RNA polymerase II promoter involved in heart development|regulation of global transcription from Pol II promoter involved in heart development|regulation of transcription from Pol II promoter involved in heart development|regulation of transcription from Pol II promoter involved in cardiac development|regulation of transcription from RNA polymerase II promoter, global involved in heart development|global transcription regulation from Pol II promoter involved in dorsal vessel development|regulation of transcription from Pol II promoter involved in dorsal vessel development	http://purl.obolibrary.org/obo/GO_1901213	Any process that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter that contributes to the development of the heart over time.	
MONDO:0014279	obsolete arrhythmogenic right ventricular dysplasia, familial, 13	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0014279		
MONDO:0014278	immunodeficiency 18	biolink:Disease	mondo	UMLS:C3810127|OMIM:615615|DOID:0060017		immunodeficiency 18, SCID variant|immunodeficiency 18; IMD18|immunodeficiency 18, Severe combined immunodeficiency variant|IMD18|immunodeficiency 18|CD3-Epsilon deficiency|immunodeficiency type 18	http://purl.obolibrary.org/obo/MONDO_0014278	Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18.	DOID:0060017|UMLS:C3810127|http://identifiers.org/omim/615615
MONDO:0014273	microcephaly-thin corpus callosum-intellectual disability syndrome	biolink:Disease	mondo	Orphanet:397951|ICD10:Q87.8|OMIM:615599|UMLS:C3810080	ordo_disease	intellectual disability, autosomal recessive type 40|mental retardation, autosomal recessive 40; MRT40|mental retardation, autosomal recessive type 40|intellectual disability, autosomal recessive 40; MRT40|mental retardation, autosomal recessive 40|intellectual disability, autosomal recessive 40|MRT40	http://purl.obolibrary.org/obo/MONDO_0014273	Microcephaly-thin corpus callosum-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated.	ORPHA:397951|http://identifiers.org/omim/615599|UMLS:C3810080
MONDO:0014272	palmoplantar keratoderma, Nagashima type	biolink:Disease	mondo	ICD10:Q82.8|SCTID:722205008|Orphanet:140966|UMLS:C3810072|OMIM:615598	ordo_disease	palmoplantar keratoderma, Nagashima type|palmoplantar keratoderma, Nagashima type; PPKN|PPKN|palmoplantar hyperkeratosis, Nagashima type|PPK, Nagashima type	http://purl.obolibrary.org/obo/MONDO_0014272	Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda.	UMLS:C3810072|SNOMEDCT:722205008|http://identifiers.org/omim/615598|ORPHA:140966
MONDO:0014271	STT3B-CDG	biolink:Disease	mondo	MESH:C535751|SCTID:733112007|Orphanet:370924|ICD10:E77.8|UMLS:C2931007|OMIM:615597|DOID:0080573	ordo_disease	CDG1X|congenital disorder of glycosylation type 1x|CDG IX|CDG-Ix|carbohydrate deficient glycoprotein syndrome type IX|CDG syndrome type IX|congenital disorder of glycosylation type IX|congenital disorder of glycosylation, type IX; CDG1X|congenital disorder of glycosylation, type IX	http://purl.obolibrary.org/obo/MONDO_0014271	(3p24.1).	MESH:C535751|UMLS:C2931007|http://identifiers.org/omim/615597|ORPHA:370924|DOID:0080573|SNOMEDCT:733112007
MONDO:0014270	STT3A-CDG	biolink:Disease	mondo	Orphanet:370921|ICD10:E77.8|SCTID:733111000|UMLS:C3810062|OMIM:615596|DOID:0080572	ordo_disease	congenital disorder of glycosylation type 1w|CDG1W|CDG-Iw|CDG Iw|CDG syndrome type Iw|congenital disorder of glycosylation type Iw|congenital disorder of glycosylation, type Iw; CDG1W|congenital disorder of glycosylation, type Iw	http://purl.obolibrary.org/obo/MONDO_0014270	STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3).	SNOMEDCT:733111000|UMLS:C3810062|http://identifiers.org/omim/615596|ORPHA:370921|DOID:0080572
MONDO:0014277	DDH2	biolink:Disease	mondo	OMIM:615612|UMLS:C3715079		developmental dysplasia of the hip 2; DDH2|DDH2|developmental dysplasia of the hip 2	http://purl.obolibrary.org/obo/MONDO_0014277		http://identifiers.org/omim/615612|UMLS:C3715079
MONDO:0014276	combined immunodeficiency due to CD3gamma deficiency	biolink:Disease	mondo	ICD10:D81.2|OMIM:615607|SCTID:725135004|Orphanet:169082|UMLS:C4510864|GARD:0009521|UMLS:C3810107|DOID:0060018	gard_rare|ordo_disease	CD3-gamma deficiency|immunodeficiency type 17|immunodeficiency 17|CD3 deficiency|SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive|immunodeficiency 17; IMD17|CD3gamma deficiency|IMD17	http://purl.obolibrary.org/obo/MONDO_0014276	Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations.	DOID:0060018|ORPHA:169082|SNOMEDCT:725135004|UMLS:C3810107|http://identifiers.org/omim/615607|UMLS:C4510864
MONDO:0014275	Fanconi renotubular syndrome 3	biolink:Disease	mondo	OMIM:615605|UMLS:C3810100		Fanconi renotubular syndrome 3|Fanconi renotubular syndrome type 3|EHHADH Fanconi syndrome|FRTS3|Fanconi renotubular syndrome 3; FRTS3|Fanconi syndrome caused by mutation in EHHADH	http://purl.obolibrary.org/obo/MONDO_0014275	Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene.	http://identifiers.org/omim/615605|UMLS:C3810100
MONDO:0014274	L-ferritin deficiency	biolink:Disease	mondo	UMLS:C3810090|OMIM:615604|Orphanet:440731	ordo_biological_anomaly	L-ferritin deficiency; LFTD|L-ferritin deficiency|LFTD	http://purl.obolibrary.org/obo/MONDO_0014274		UMLS:C3810090|http://identifiers.org/omim/615604|ORPHA:440731
MONDO:0002277	arteriosclerosis disorder	biolink:Disease	mondo	SCTID:72092001|NCIT:C34403|ICD9:440|HP:0002634|NCIT:C34398|CSP:0571-2299|ICD10:I25.1|UMLS:C0003850|MESH:D001161|DOID:2349|ICD10:I70|DOID:2348|EFO:0009086|UMLS:C3665365		cardiovascular arteriosclerosis|arteriosclerotic cardiovascular disease, NOS|arteriosclerotic vascular disease|arteriosclerotic cardiovascular disease|arteriosclerosis|arteriosclerosis NOS|arterial sclerosis|arteriosclerotic vascular disease NOS|vascular sclerosis	http://purl.obolibrary.org/obo/MONDO_0002277	A vascular disorder characterized by thickening and hardening of the walls of the arteries.	NCIT:C34403|NCIT:C34398|DOID:2349|DOID:2348|SNOMEDCT:72092001|UMLS:C0003850|UMLS:C3665365|MESH:D001161
MONDO:0002278	benign colon neoplasm	biolink:Disease	mondo	ICD9:211.3|DOID:235|UMLS:C0004991|NCIT:C2894|SCTID:92065004		benign colonic neoplasm|neoplasm of colon|benign neoplasm of the colon|benign neoplasm of colon|benign tumor of the colon|benign colon neoplasm|benign colon tumor|benign tumor of colon|colon neoplasm|colonic benign neoplasm|colonic Mass|colonic tumor|colon benign neoplasm|benign colonic tumor	http://purl.obolibrary.org/obo/MONDO_0002278	A non-metastasizing neoplasm arising from the wall of the colon.	NCIT:C2894|DOID:235|UMLS:C0004991|SNOMEDCT:92065004
GO:1901228	positive regulation of transcription from RNA polymerase II promoter involved in heart development	biolink:OntologyClass	mondo			stimulation of transcription from RNA polymerase II promoter involved in heart development|stimulation of transcription from RNA polymerase II promoter involved in cardiac development|stimulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|activation of global transcription from RNA polymerase II promoter involved in heart development|upregulation of global transcription from RNA polymerase II promoter involved in heart development|up-regulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|up regulation of global transcription from RNA polymerase II promoter involved in cardiac development|stimulation of global transcription from RNA polymerase II promoter involved in heart development|up-regulation of transcription from RNA polymerase II promoter involved in cardiac development|positive regulation of global transcription from Pol II promoter involved in heart development|up-regulation of transcription from RNA polymerase II promoter involved in heart development|positive regulation of gene-specific transcription from RNA polymerase II promoter involved in heart development|up-regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|up regulation of transcription from RNA polymerase II promoter involved in cardiac development|up-regulation of global transcription from RNA polymerase II promoter involved in cardiac development|up regulation of transcription from RNA polymerase II promoter involved in heart development|up regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|positive regulation of transcription from Pol II promoter involved in heart development|positive regulation of transcription from Pol II promoter involved in cardiac development|activation of transcription from RNA polymerase II promoter involved in heart development|activation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|positive regulation of transcription from Pol II promoter involved in dorsal vessel development|positive regulation of transcription from RNA polymerase II promoter involved in cardiac development|up regulation of global transcription from RNA polymerase II promoter involved in heart development|upregulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|stimulation of global transcription from RNA polymerase II promoter involved in cardiac development|positive regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|positive regulation of global transcription from Pol II promoter involved in dorsal vessel development|positive regulation of gene-specific transcription from RNA polymerase II promoter involved in dorsal vessel development|stimulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|up-regulation of global transcription from RNA polymerase II promoter involved in heart development|upregulation of transcription from RNA polymerase II promoter involved in cardiac development|upregulation of transcription from RNA polymerase II promoter involved in heart development|activation of global transcription from RNA polymerase II promoter involved in cardiac development|upregulation of global transcription from RNA polymerase II promoter involved in cardiac development|activation of transcription from RNA polymerase II promoter involved in cardiac development|upregulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|activation of transcription from RNA polymerase II promoter involved in dorsal vessel development|positive regulation of gene-specific transcription from RNA polymerase II promoter involved in cardiac development|positive regulation of global transcription from Pol II promoter involved in cardiac development|up regulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development	http://purl.obolibrary.org/obo/GO_1901228	Any positive regulation of transcription from RNA polymerase II promoter that is involved in heart development.	
MONDO:0002279	iron metabolism disease	biolink:Disease	mondo	SCTID:30913008|COHD:434614|ICD10:E83.10|UMLS:C0012715|ICD9:275.0|ICD10:E83.1|MESH:D019189|DOID:2351		disorder of iron metabolism|iron disorder|metabolism disorder, iron|iron metabolism disorder|disorder, iron metabolism|disorders, iron metabolism|metabolism disorders, iron	http://purl.obolibrary.org/obo/MONDO_0002279	Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. (From Mosby's Medical, Nursing, & Allied Health Dictionary, 4th ed)	MESH:D019189|UMLS:C0012715|DOID:2351|SNOMEDCT:30913008
MONDO:0002273	plasma protein metabolism disease	biolink:Disease	mondo	DOID:2345|ICD9:273.8			http://purl.obolibrary.org/obo/MONDO_0002273	An inherited metabolic disorder that involves plasma protein metabolism malfunction.	DOID:2345
GO:1901227	negative regulation of transcription from RNA polymerase II promoter involved in heart development	biolink:OntologyClass	mondo			down regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|inhibition of global transcription from RNA polymerase II promoter involved in cardiac development|negative regulation of global transcription from Pol II promoter involved in cardiac development|down-regulation of global transcription from RNA polymerase II promoter involved in heart development|downregulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|negative regulation of gene-specific transcription from RNA polymerase II promoter involved in cardiac development|negative regulation of transcription from Pol II promoter involved in heart development|negative regulation of transcription from Pol II promoter involved in cardiac development|downregulation of transcription from RNA polymerase II promoter involved in cardiac development|inhibition of transcription from RNA polymerase II promoter involved in heart development|downregulation of transcription from RNA polymerase II promoter involved in heart development|negative regulation of transcription from Pol II promoter involved in dorsal vessel development|downregulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|down regulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|inhibition of global transcription from RNA polymerase II promoter involved in heart development|downregulation of global transcription from RNA polymerase II promoter involved in cardiac development|negative regulation of gene-specific transcription from RNA polymerase II promoter involved in heart development|negative regulation of global transcription from Pol II promoter involved in heart development|inhibition of transcription from RNA polymerase II promoter involved in cardiac development|down-regulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|inhibition of transcription from RNA polymerase II promoter involved in dorsal vessel development|down regulation of global transcription from RNA polymerase II promoter involved in cardiac development|downregulation of global transcription from RNA polymerase II promoter involved in heart development|down-regulation of transcription from RNA polymerase II promoter involved in heart development|negative regulation of transcription from RNA polymerase II promoter involved in cardiac development|down-regulation of transcription from RNA polymerase II promoter involved in cardiac development|inhibition of global transcription from RNA polymerase II promoter involved in dorsal vessel development|down-regulation of global transcription from RNA polymerase II promoter involved in cardiac development|negative regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|down-regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|negative regulation of gene-specific transcription from RNA polymerase II promoter involved in dorsal vessel development|negative regulation of global transcription from Pol II promoter involved in dorsal vessel development|down regulation of transcription from RNA polymerase II promoter involved in cardiac development|down regulation of transcription from RNA polymerase II promoter involved in heart development|down regulation of global transcription from RNA polymerase II promoter involved in heart development	http://purl.obolibrary.org/obo/GO_1901227	Any negative regulation of transcription from RNA polymerase II promoter that is involved in heart development.	
MONDO:0002274	monoclonal paraproteinemia disease	biolink:Disease	mondo	COHD:441532|HP:0031047|SCTID:267440005|NCIT:C35878|ICD9:273.1|UMLS:C0026471|DOID:2346		monoclonal paraproteinemia|paraproteinaemia|monoclonal paraproteinaemia	http://purl.obolibrary.org/obo/MONDO_0002274	A disease characterized by the presence of excessive amounts of paraprotein or single monoclonal gammaglobulin in the blood. It is usually due to an underlying immunoproliferative disorder or hematologic neoplasms, especially multiple myeloma.	NCIT:C35878|DOID:2346|SNOMEDCT:267440005|UMLS:C0026471
MONDO:0002275	generalized atherosclerosis	biolink:Disease	mondo	SCTID:39823006|NCIT:C35767|ICD9:440.9|COHD:321882|ICD10:I70.91|UMLS:C0017327|DOID:2347		generalized and unspecified atherosclerosis|generalised atherosclerosis	http://purl.obolibrary.org/obo/MONDO_0002275	Atherosclerosis that is not localized.	NCIT:C35767|DOID:2347|UMLS:C0017327|SNOMEDCT:39823006
MONDO:0002276	obsolete arteriosclerotic cardiovascular disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002276		
MONDO:0002270	viral gastritis	biolink:Disease	mondo	SCTID:285344007|UMLS:C0563238|DOID:2327|NCIT:C27184|ICD9:008.8		Viruses gastritis (disease)|viral gastritis|Viruses caused gastritis (disease)	http://purl.obolibrary.org/obo/MONDO_0002270	Inflammation of the stomach resulting from viral infection.	NCIT:C27184|SNOMEDCT:285344007|DOID:2327|UMLS:C0563238
MONDO:0002271	colon adenocarcinoma	biolink:Disease	mondo	EFO:1001949|UMLS:C0338106|ONCOTREE:COAD|DOID:234|NCIT:C4349		adenocarcinoma - colon|colon adenocarcinoma|adenocarcinoma of the colon|adenocarcinoma of colon|COAD|colonic adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0002271	A carcinoma that arises from glandular epithelial cells of the colon	NCIT:C4349|DOID:234|UMLS:C0338106
MONDO:0002272	polyclonal hypergammaglobulinemia	biolink:Disease	mondo	DOID:2344|COHD:432587|UMLS:C0154254|NCIT:C35885|ICD9:273.0|SCTID:190808009|ICD10:D89.0		polyclonal hypergammaglobulinemia	http://purl.obolibrary.org/obo/MONDO_0002272	A laboratory test result indicating abnormally high proliferation of gamma globulins in the blood originating from multiple cell lines.	DOID:2344|UMLS:C0154254|SNOMEDCT:190808009|NCIT:C35885
GO:0009087	methionine catabolic process	biolink:OntologyClass	mondo			methionine catabolism|methionine degradation|methionine breakdown	http://purl.obolibrary.org/obo/GO_0009087	The chemical reactions and pathways resulting in the breakdown of methionine (2-amino-4-(methylthio)butanoic acid), a sulfur-containing, essential amino acid found in peptide linkage in proteins.	
MONDO:0014269	combined oxidative phosphorylation deficiency 19	biolink:Disease	mondo	UMLS:C3810055|OMIM:615595|DOID:0111476		combined oxidative phosphorylation deficiency 19; COXPD19|LYRM4 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency 19|combined oxidative phosphorylation deficiency type 19|combined oxidative phosphorylation deficiency caused by mutation in LYRM4|COXPD19	http://purl.obolibrary.org/obo/MONDO_0014269	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the LYRM4 gene.	DOID:0111476|UMLS:C3810055|http://identifiers.org/omim/615595
MONDO:0014268	combined immunodeficiency due to OX40 deficiency	biolink:Disease	mondo	SCTID:766879006|OMIM:615593|UMLS:C3810053|ICD10:D81.8|Orphanet:431149	ordo_disease	immunodeficiency 16; IMD16|immunodeficiency type 16|immunodeficiency 16|combined immunodeficiency with childhood-onset Kaposi sarcoma|combined immunodeficiency with impaired immunity to human herpes virus 8|OX40 deficiency|IMD16|combined immunodeficiency with impaired immunity to HHV-8	http://purl.obolibrary.org/obo/MONDO_0014268	Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.	SNOMEDCT:766879006|ORPHA:431149|http://identifiers.org/omim/615593|UMLS:C3810053
MONDO:0014267	severe combined immunodeficiency due to IKK2 deficiency	biolink:Disease	mondo	ICD10:D81.2|UMLS:C3810043|OMIM:615592|Orphanet:397787	ordo_disease	IMD15|immunodeficiency type 15|immunodeficiency 15|SCID due to IKK2 deficiency|immunodeficiency 15; IMD15	http://purl.obolibrary.org/obo/MONDO_0014267	Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present.	ORPHA:397787|UMLS:C3810043|http://identifiers.org/omim/615592
GO:0009081	branched-chain amino acid metabolic process	biolink:OntologyClass	mondo			branched chain family amino acid metabolism	http://purl.obolibrary.org/obo/GO_0009081	The chemical reactions and pathways involving amino acids containing a branched carbon skeleton, comprising isoleucine, leucine and valine.	
MONDO:0014262	Rienhoff syndrome	biolink:Disease	mondo	GARD:0012356|UMLS:C3810012|OMIM:615582|DOID:0070236|EFO:1000012	gard_rare	Rienhoff syndrome|Loeys-Dietz syndrome 5|Loeys-Dietz syndrome type 5|LDS5|Loeys-Dietz syndrome 5; LDS5	http://purl.obolibrary.org/obo/MONDO_0014262	Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection.	UMLS:C3810012|http://identifiers.org/omim/615582|DOID:0070236
MONDO:0014261	growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome	biolink:Disease	mondo	ICD10:E88.8|UMLS:C3810001|DOID:0111484|Orphanet:391348|OMIM:615578	ordo_disease	COXPD18|combined oxidative phosphorylation deficiency 18; COXPD18|combined oxidative phosphorylation deficiency caused by mutation in SFXN4|combined oxidative phosphorylation deficiency type 18|combined oxidative phosphorylation deficiency 18|SFXN4 combined oxidative phosphorylation deficiency	http://purl.obolibrary.org/obo/MONDO_0014261	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene.	DOID:0111484|http://identifiers.org/omim/615578|UMLS:C3810001|ORPHA:391348
MONDO:0014260	immunodeficiency, common variable, 10	biolink:Disease	mondo	UMLS:C3809991|OMIM:615577		NFKB2 common variable immunodeficiency|immunodeficiency, common variable, type 10|immunodeficiency, common variable, with central adrenal insufficiency|immunodeficiency, common variable, 10; CVID10|immunodeficiency, common variable, 10|Deficit in anterior pituitary function and variable immunodeficiency|CVID10|common variable immunodeficiency caused by mutation in NFKB2	http://purl.obolibrary.org/obo/MONDO_0014260	Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB2 gene.	UMLS:C3809991|http://identifiers.org/omim/615577
MONDO:0014266	age related macular degeneration 15	biolink:Disease	mondo	UMLS:C3810042|DOID:0110027|OMIM:615591		macular degeneration, age-related, 15|C9 age-related macular degeneration|macular Degeneration, age-related, type 15|age-related macular degeneration caused by mutation in C9|ARMD15|age related macular degeneration type 15|macular degeneration, age-related, 15; ARMD15	http://purl.obolibrary.org/obo/MONDO_0014266	Any age-related macular degeneration in which the cause of the disease is a mutation in the C9 gene.	DOID:0110027|http://identifiers.org/omim/615591|UMLS:C3810042
MONDO:0014265	Alzheimer disease 18	biolink:Disease	mondo	UMLS:C3810041|OMIM:615590|DOID:0110050		Alzheimer disease 18; AD18|Alzheimer disease caused by mutation in ADAM10|Alzheimer's disease type 18|AD18|Alzheimer disease 18|ADAM10 Alzheimer disease|Alzheimer disease type 18|Alzheimer's disease 18|Alzheimer disease 18, late-onset	http://purl.obolibrary.org/obo/MONDO_0014265	Any Alzheimer disease in which the cause of the disease is a mutation in the ADAM10 gene.	DOID:0110050|UMLS:C3810041|http://identifiers.org/omim/615590
MONDO:0014264	OTSC10	biolink:Disease	mondo	OMIM:615589		OTSC10|otosclerosis 10|otosclerosis 10; OTSC10	http://purl.obolibrary.org/obo/MONDO_0014264		http://identifiers.org/omim/615589
MONDO:0014263	8q24.3 microdeletion syndrome	biolink:Disease	mondo	OMIM:615583|UMLS:C3810023|GARD:0012814|Orphanet:508488	ordo_malformation_syndrome	Verheij syndrome|chromosome 8Q24.3 deletion syndrome|Verheij syndrome; VRJS|VRJS	http://purl.obolibrary.org/obo/MONDO_0014263		ORPHA:508488|UMLS:C3810023|http://identifiers.org/omim/615583
MONDO:0002288	obsolete ovarian cancer	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002288		
MONDO:0002289	iris disease	biolink:Disease	mondo	UMLS:C0022078|SCTID:85478004|MESH:D007499|NCIT:C34737|DOID:240		iris disorder|iris disease or disorder|disorder of iris|disease of iris|disorder of iris|disease or disorder of iris|iris disease	http://purl.obolibrary.org/obo/MONDO_0002289	A disease involving the iris.	NCIT:C34737|MESH:D007499|UMLS:C0022078|SNOMEDCT:85478004|DOID:240
MONDO:0002284	obsolete gangliosidosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002284		
MONDO:0002285	pupil disease	biolink:Disease	mondo	DOID:238|UMLS:C0034124|SCTID:68633000		disorder of pupil|pupil disease|disease or disorder of pupil|pupil disease or disorder|disease of pupil|pupillary disorder|disorder of pupil	http://purl.obolibrary.org/obo/MONDO_0002285	A disease involving the pupil.	SNOMEDCT:68633000|UMLS:C0034124|DOID:238
MONDO:0002286	renal artery disease	biolink:Disease	mondo	DOID:2388|UMLS:C3640053|SCTID:16934004|ICD9:593.81|NCIT:C101254|UMLS:C0268790		vascular disorder of kidney|renal vascular disease	http://purl.obolibrary.org/obo/MONDO_0002286	A disease involving the renal artery.	NCIT:C101254|DOID:2388|SNOMEDCT:16934004|UMLS:C3640053|UMLS:C0268790
MONDO:0002287	glandular cystitis	biolink:Disease	mondo	UMLS:C0268837|NCIT:C39860|DOID:2392|SCTID:72815004|ICD9:595.89		cystitis glandularis	http://purl.obolibrary.org/obo/MONDO_0002287	A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by metaplastic glandular cells.	DOID:2392|NCIT:C39860|UMLS:C0268837|SNOMEDCT:72815004
MONDO:0002280	anemia (disease)	biolink:Disease	mondo	EFO:0004272|ICD9:285.8|ICD10:D64.9|MESH:D000740|SCTID:271737000|HP:0001903|ICD9:285.9|NCIT:C2869|DOID:2355		anaemia|anemia	http://purl.obolibrary.org/obo/MONDO_0002280	A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability.	DOID:2355|SNOMEDCT:271737000|NCIT:C2869|MESH:D000740
MONDO:0002281	macrocytic anemia (disease)	biolink:Disease	mondo	MESH:D000748|NCIT:C34381|HP:0001972|UMLS:C0002886|DOID:2361|SCTID:83414005		macrocytic Anemia|macrocytic anaemia of unspecified cause|macrocytic anemia|anemia macrocytic|D22S676|macrocytic anaemia|D22S750	http://purl.obolibrary.org/obo/MONDO_0002281	Anemia that is characterized by increased red blood cell volume.	DOID:2361|SNOMEDCT:83414005|UMLS:C0002886|NCIT:C34381|MESH:D000748
MONDO:0002282	West Nile fever	biolink:Disease	mondo	MESH:D014901|ICD10:A92.3|ICD9:066.4|SCTID:417093003|ICD9:066.40|DOID:2366|ICD10:A92.30		West Nile virus disease or disorder|West Nile virus infectious disease|West Nile virus caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0002282	A mosquito-borne viral illness caused by the west nile virus, a flavivirus and endemic to regions of Africa, Asia, and Europe. Common clinical features include headache; fever; maculopapular rash; gastrointestinal symptoms; and lymphadenopathy. meningitis; encephalitis; and myelitis may also occur. The disease may occasionally be fatal or leave survivors with residual neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13; Lancet 1998 Sep 5;352(9130):767-71)	DOID:2366|MESH:D014901|SNOMEDCT:417093003
MONDO:0002283	neuroaxonal dystrophy	biolink:Disease	mondo	MESH:D019150|NCIT:C161542|SCTID:230365004|DOID:2367|UMLS:C0338473			http://purl.obolibrary.org/obo/MONDO_0002283	A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)	NCIT:C161542|MESH:D019150|UMLS:C0338473|DOID:2367|SNOMEDCT:230365004
MONDO:0014259	neuronopathy, distal hereditary motor, type 2D	biolink:Disease	mondo	OMIM:615575|DOID:0111210		neuropathy, distal hereditary motor, type 2D|neuronopathy, distal hereditary motor, type IID; HMN2D|neuronopathy, distal hereditary motor caused by mutation in FBXO38|spinal muscular atrophy, distal, autosomal dominant, calf-predominant|HMN2D|neuronopathy, distal hereditary motor, type IID|FBXO38 neuronopathy, distal hereditary motor|HMN 2D	http://purl.obolibrary.org/obo/MONDO_0014259	Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the FBXO38 gene.	DOID:0111210|http://identifiers.org/omim/615575
MONDO:0014258	congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	biolink:Disease	mondo	Orphanet:391376|UMLS:C3809971|OMIM:615574|ICD10:E72.8	ordo_disease	Asns deficiency|ASNSD|asparagine synthetase deficiency|asparagine synthetase deficiency; ASNSD	http://purl.obolibrary.org/obo/MONDO_0014258		ORPHA:391376|UMLS:C3809971|http://identifiers.org/omim/615574
MONDO:0014257	nephrotic syndrome, type 9	biolink:Disease	mondo	OMIM:615573|DOID:0080391|UMLS:C3809965		nephrotic syndrome, type 9|nephrotic syndrome, type 9; NPHS9|NPHS9|COQ8B nephrotic syndrome|nephrotic syndrome caused by mutation in COQ8B	http://purl.obolibrary.org/obo/MONDO_0014257	Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene.	DOID:0080391|UMLS:C3809965|http://identifiers.org/omim/615573
MONDO:0014256	retinitis pigmentosa 67	biolink:Disease	mondo	ICD10:H35.5|OMIM:615565|DOID:0110359|UMLS:C3809954		RP67|retinitis pigmentosa caused by mutation in NEK2|retinitis pigmentosa type 67|retinitis pigmentosa 67; RP67|retinitis pigmentosa 67|NEK2 retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0014256	Any retinitis pigmentosa in which the cause of the disease is a mutation in the NEK2 gene.	DOID:0110359|UMLS:C3809954|http://identifiers.org/omim/615565
MONDO:0014251	melioidosis, susceptibility to	biolink:Disease	mondo	OMIM:615557	predisposition	susceptibility to melioidosis|melioidosis, susceptibility to|melioidosis, resistance to	http://purl.obolibrary.org/obo/MONDO_0014251		http://identifiers.org/omim/615557
MONDO:0014250	familial hyperprolactinemia	biolink:Disease	mondo	SCTID:763715007|Orphanet:397685|ICD10:E22.1|OMIM:615555	ordo_disease	hyperprolactinemia|hyperprolactinemia; HPRL|familial isolated prolactin receptor deficiency|familial hyperprolactinemia|hereditary hyperprolactinemia (disease)|HPRL	http://purl.obolibrary.org/obo/MONDO_0014250	Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients.	SNOMEDCT:763715007|ORPHA:397685|http://identifiers.org/omim/615555
MONDO:0014255	complement factor b deficiency	biolink:Disease	mondo	OMIM:615561|UMLS:C3809950		complement factor b deficiency|complement factor B deficiency; CFBD|CFBD	http://purl.obolibrary.org/obo/MONDO_0014255		UMLS:C3809950|http://identifiers.org/omim/615561
MONDO:0014254	otofaciocervical syndrome 2	biolink:Disease	mondo	UMLS:C3714942|OMIM:615560		otofaciocervical syndrome type 2|otofaciocervical syndrome caused by mutation in PAX1|otofaciocervical syndrome 2; OFC2|otofaciocervical syndrome 2; OTFCS2|PAX1 otofaciocervical syndrome|OFC2|OTFCS2|otofaciocervical syndrome 2	http://purl.obolibrary.org/obo/MONDO_0014254	Any otofaciocervical syndrome in which the cause of the disease is a mutation in the PAX1 gene.	UMLS:C3714942|http://identifiers.org/omim/615560
MONDO:0014253	autoimmune lymphoproliferative syndrome type 3	biolink:Disease	mondo	NCIT:C39577|DOID:0110119|ICD10:D47.9|UMLS:C3809928|UMLS:C1519711|OMIM:615559		autoimmune lymphoproliferative syndrome, type 3|autoimmune lymphoproliferative syndrome, type III|PRKCD autoimmune lymphoproliferative syndrome|autoimmune lymphoproliferative syndrome-undetermined variant|type 3 ALPS|ALPS3|autoimmune lymphoproliferative syndrome caused by mutation in PRKCD|common variable immunodeficiency 9|CVID9|immunodeficiency, common variable, 9, formerly|autoimmune lymphoproliferative syndrome type III|autoimmune lymphoproliferative syndrome, type III; ALPS3|immunodeficiency, common variable, 9|type 3 autoimmune lymphoproliferative syndrome|ALPS-U	http://purl.obolibrary.org/obo/MONDO_0014253	A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma.	DOID:0110119|UMLS:C1519711|UMLS:C3809928|NCIT:C39577|http://identifiers.org/omim/615559
MONDO:0014252	familial hypobetalipoproteinemia 1	biolink:Disease	mondo	GARD:0002876|DOID:0111062|MESH:C566267|UMLS:CN182502|SCTID:60193003|OMIM:615558		hypobetalipoproteinemia, familial|FHBL1|familial hypobetalipoproteinemia type 1|hypobetalipoproteinemia, familial, type 1|FHBL|APOB hypobetalipoproteinemia|hypobetalipoproteinemia, familial, 1; FHBL1|hypobetalipoproteinemia, familial, 1|acanthocytosis with hypobetalipoproteinemia|hypobetalipoproteinemia caused by mutation in APOB|hypobetalipoproteinemia, Normotriglyceridemic	http://purl.obolibrary.org/obo/MONDO_0014252	Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the APOB gene.	DOID:0111062|SNOMEDCT:60193003|http://identifiers.org/omim/615558|UMLS:CN182502|MESH:C566267
UBERON:0035083	transverse process-bearing vertebra	biolink:AnatomicalEntity	mondo			pygal vertebra|TP vertebra	http://purl.obolibrary.org/obo/UBERON_0035083	A vertebra that has a transverse process.	
GO:0009059	macromolecule biosynthetic process	biolink:OntologyClass	mondo			biopolymer biosynthetic process|macromolecule synthesis|macromolecule formation|macromolecule biosynthesis|macromolecule anabolism	http://purl.obolibrary.org/obo/GO_0009059	The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass.	
GO:0009058	biosynthetic process	biolink:OntologyClass	mondo			anabolism|multicellular organismal biosynthetic process|formation|synthesis|single-organism biosynthetic process|biosynthesis	http://purl.obolibrary.org/obo/GO_0009058	The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones.	
GO:0009057	macromolecule catabolic process	biolink:OntologyClass	mondo			biopolymer catabolic process|macromolecule breakdown|multicellular organismal macromolecule catabolic process|macromolecule catabolism|macromolecule degradation	http://purl.obolibrary.org/obo/GO_0009057	The chemical reactions and pathways resulting in the breakdown of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass.	
GO:0009056	catabolic process	biolink:OntologyClass	mondo			degradation|breakdown|single-organism catabolic process|catabolism|multicellular organismal catabolic process	http://purl.obolibrary.org/obo/GO_0009056	The chemical reactions and pathways resulting in the breakdown of substances, including the breakdown of carbon compounds with the liberation of energy for use by the cell or organism.	
GO:0009064	glutamine family amino acid metabolic process	biolink:OntologyClass	mondo			glutamine family amino acid metabolism	http://purl.obolibrary.org/obo/GO_0009064	The chemical reactions and pathways involving amino acids of the glutamine family, comprising arginine, glutamate, glutamine and proline.	
GO:0009063	cellular amino acid catabolic process	biolink:OntologyClass	mondo			amino acid catabolic process|cellular amino acid degradation|cellular amino acid catabolism|cellular amino acid breakdown	http://purl.obolibrary.org/obo/GO_0009063	The chemical reactions and pathways resulting in the breakdown of amino acids, organic acids containing one or more amino substituents.	
GO:0009060	aerobic respiration	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0009060	The enzymatic release of energy from inorganic and organic compounds (especially carbohydrates and fats) which requires oxygen as the terminal electron acceptor.	
UBERON:0035091	extrinsic post-anal tail muscle	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0035091	A post-anal tail that attaches outside the tail.	
UBERON:0035096	fascia of tail	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0035096		
GO:0009069	serine family amino acid metabolic process	biolink:OntologyClass	mondo			serine family amino acid metabolism	http://purl.obolibrary.org/obo/GO_0009069	The chemical reactions and pathways involving amino acids of the serine family, comprising cysteine, glycine, homoserine, selenocysteine and serine.	
GO:0009068	aspartate family amino acid catabolic process	biolink:OntologyClass	mondo			aspartate family amino acid degradation|aspartate family amino acid breakdown|aspartate family amino acid catabolism	http://purl.obolibrary.org/obo/GO_0009068	The chemical reactions and pathways resulting in the breakdown of amino acids of the aspartate family, comprising asparagine, aspartate, lysine, methionine and threonine.	
GO:0009066	aspartate family amino acid metabolic process	biolink:OntologyClass	mondo			aspartate family amino acid metabolism	http://purl.obolibrary.org/obo/GO_0009066	The chemical reactions and pathways involving amino acids of the aspartate family, comprising asparagine, aspartate, lysine, methionine and threonine.	
GO:0009074	aromatic amino acid family catabolic process	biolink:OntologyClass	mondo			aromatic amino acid family breakdown|aromatic amino acid family catabolism|aromatic amino acid family degradation	http://purl.obolibrary.org/obo/GO_0009074	The chemical reactions and pathways resulting in the breakdown of aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan).	
GO:0009072	aromatic amino acid family metabolic process	biolink:OntologyClass	mondo			aromatic amino acid family metabolism	http://purl.obolibrary.org/obo/GO_0009072	The chemical reactions and pathways involving aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan).	
GO:0009070	serine family amino acid biosynthetic process	biolink:OntologyClass	mondo			serine family amino acid synthesis|serine family amino acid formation|serine family amino acid anabolism|serine family amino acid biosynthesis	http://purl.obolibrary.org/obo/GO_0009070	The chemical reactions and pathways resulting in the formation of amino acids of the serine family, comprising cysteine, glycine, homoserine, selenocysteine and serine.	
GO:0097689		biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0097689		
NCBITaxon:12730	Human respirovirus 1	organism taxon	mondo	GC_ID:1		Human parainfluenza virus 1|Human parainfluenza 1 virus|Parainfluenza virus type 1|human parainfluenza virus type 1 hPIV1|human parainfluenza virus type 1 HPIV-1|HPIV1|HPIV-1|Human parainfluenza virus type 1	http://purl.obolibrary.org/obo/NCBITaxon_12730		
HGNC:23287	ETHE1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23287		
GO:1901264	carbohydrate derivative transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1901264	The directed movement of a carbohydrate derivative into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
MONDO:0041879	staphylococcus aureus pneumonia	biolink:Disease	mondo	SCTID:441658007		staphylococcus aureus pneumonia|Staphylococcus aureus pneumonia|Staphylococcus aureus caused pneumonia|pneumonia due to staphylococcus aureus|pneumonia caused by staphylococcus aureus	http://purl.obolibrary.org/obo/MONDO_0041879	An pneumonia caused by infection with Staphylococcus aureus.	SNOMEDCT:441658007
GO:0097659	nucleic acid-templated transcription	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0097659	The cellular synthesis of RNA on a template of nucleic acid (DNA or RNA).	
SO:0000656	stRNA_encoding	biolink:SequenceFeature	mondo			stRNA encoding	http://purl.obolibrary.org/obo/SO_0000656	A region that can be transcribed into a small temporal RNA (stRNA). Found in roundworm development.	
SO:0000655	ncRNA	biolink:SequenceFeature	mondo			noncoding RNA|known_ncrna|INSDC_qualifier:other	http://purl.obolibrary.org/obo/SO_0000655	An RNA transcript that does not encode for a protein rather the RNA molecule is the gene product.	
SO:0000651	large_subunit_rRNA	biolink:SequenceFeature	mondo			LSU rRNA|large subunit rRNA|LSU RNA	http://purl.obolibrary.org/obo/SO_0000651	Ribosomal RNA transcript that structures the large subunit of the ribosome.	
MONDO:0014291	autosomal dominant nonsyndromic deafness 54	biolink:Disease	mondo	DOID:0110580|ICD10:H90.3|OMIM:615649		deafness, autosomal dominant 54; DFNA54|DFNA54|autosomal dominant deafness 54|autosomal dominant nonsyndromic deafness type 54|deafness, autosomal dominant 54	http://purl.obolibrary.org/obo/MONDO_0014291	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.	http://identifiers.org/omim/615649|DOID:0110580
MONDO:0014290	neurodegeneration with brain iron accumulation 6	biolink:Disease	mondo	SCTID:732264002|UMLS:C3810230|GARD:0012571|ICD10:G23.0|OMIM:615643|Orphanet:397725|DOID:0110740	ordo_disease	neurodegeneration with brain iron accumulation caused by mutation in COASY|COASY neurodegeneration with brain iron accumulation|neurodegeneration with brain iron accumulation 6; NBIA6|neurodegeneration with brain iron accumulation 6|NBIA6|CoPAN|neurodegeneration with brain iron accumulation type 6|neurodegeneration with brain iron accumulation due to COASY mutation|COASY protein-associated neurodegeneration	http://purl.obolibrary.org/obo/MONDO_0014290	COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.	UMLS:C3810230|http://identifiers.org/omim/615643|SNOMEDCT:732264002|DOID:0110740|ORPHA:397725
GO:0010032	meiotic chromosome condensation	biolink:OntologyClass	mondo			chromosome condensation involved in meiotic cell cycle	http://purl.obolibrary.org/obo/GO_0010032	Compaction of chromatin structure prior to meiosis in eukaryotic cells.	
GO:0010033	response to organic substance	biolink:OntologyClass	mondo			process resulting in tolerance to organic substance	http://purl.obolibrary.org/obo/GO_0010033	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus.	
MONDO:0014295	hereditary spastic paraplegia 57	biolink:Disease	mondo	EFO:0009017|Orphanet:431329|DOID:0110809|UMLS:C3714897|SCTID:723826007|ICD10:G11.4|OMIM:615658|UMLS:C4510084	ordo_disease	hereditary spastic paraplegia caused by mutation in TFG|spastic paraplegia due to partial TFG deficiency|autosomal recessive spastic paraplegia type 57|hereditary spastic paraplegia type 57|spastic paraplegia 57, autosomal recessive|SPG57|TFG hereditary spastic paraplegia|autosomal recessive spastic paraplegia 57|spastic paraplegia 57, autosomal recessive; SPG57	http://purl.obolibrary.org/obo/MONDO_0014295	An extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.	UMLS:C4510084|SNOMEDCT:723826007|ORPHA:431329|http://identifiers.org/omim/615658|UMLS:C3714897|DOID:0110809
MONDO:0014294	chromosome 15q11.2 deletion syndrome	biolink:Disease	mondo	UMLS:C3180937|DOID:0060393|ICD10:Q93.5|OMIM:615656|GARD:0010525|Orphanet:261183	ordo_malformation_syndrome	chromosome 15q11.2 deletion syndrome|chromosome 15q11.2 deletion|15q11.2 microdeletion|15q11.2 BP1-BP2 microdeletion syndrome|Del(15)(q11.2)|15q11.2 microdeletion syndrome|chromosome 15q11.2 microdeletion|monosomy 15q11.2	http://purl.obolibrary.org/obo/MONDO_0014294	15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia).	http://identifiers.org/omim/615656|ORPHA:261183|UMLS:C3180937|DOID:0060393
GO:0022008	neurogenesis	biolink:OntologyClass	mondo			nervous system cell generation|neural cell differentiation	http://purl.obolibrary.org/obo/GO_0022008	Generation of cells within the nervous system.	
MONDO:0014293	autosomal dominant nonsyndromic deafness 58	biolink:Disease	mondo	ICD10:H90.3|OMIM:615654|DOID:0110582		deafness, autosomal dominant 58; DFNA58|deafness, autosomal dominant 58|DFNA58|autosomal dominant nonsyndromic deafness type 58|autosomal dominant deafness 58	http://purl.obolibrary.org/obo/MONDO_0014293	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p21-p12.	http://identifiers.org/omim/615654|DOID:0110582
MONDO:0014292	leukoencephalopathy with mild cerebellar ataxia and white matter edema	biolink:Disease	mondo	UMLS:C3810242|SCTID:768663003|NCIT:C171603|OMIM:615651|Orphanet:363540|ICD10:E75.2	ordo_disease	leukoencephalopathy with ataxia|LKPAT|leukoencephalopathy with ataxia; LKPAT	http://purl.obolibrary.org/obo/MONDO_0014292		NCIT:C171603|UMLS:C3810242|http://identifiers.org/omim/615651|SNOMEDCT:768663003|ORPHA:363540
MONDO:0014299	schwannomatosis 2	biolink:Disease	mondo	UMLS:C3810283|OMIM:615670		SWNTS2|Schwannomatosis type 2|schwannomatosis 2|SCHWANNOMATOSIS 2; SWNTS2	http://purl.obolibrary.org/obo/MONDO_0014299		UMLS:C3810283|http://identifiers.org/omim/615670
MONDO:0014298	chromosome 5q12 deletion syndrome	biolink:Disease	mondo	Orphanet:439822|OMIM:615668|UMLS:C3810282|DOID:0060421	ordo_malformation_syndrome	chromosome 5q12 deletion syndrome|PDE4D haploinsufficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0014298	PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.	DOID:0060421|UMLS:C3810282|http://identifiers.org/omim/615668|ORPHA:439822
MONDO:0014297	Joubert syndrome 22	biolink:Disease	mondo	UMLS:C3810278|OMIM:615665|DOID:0110991		Joubert syndrome 22; JBTS22|PDE6D Joubert syndrome|Joubert syndrome type 22|JBTS22|Joubert syndrome caused by mutation in PDE6D|Joubert syndrome 22	http://purl.obolibrary.org/obo/MONDO_0014297	Any Joubert syndrome in which the cause of the disease is a mutation in the PDE6D gene.	DOID:0110991|UMLS:C3810278|http://identifiers.org/omim/615665
MONDO:0014296	Warburg micro syndrome 4	biolink:Disease	mondo	UMLS:C3810265|ICD10:Q87.0|OMIM:615663|DOID:0110719		Warburg micro syndrome caused by mutation in TBC1D20|WARBM4|Warburg micro syndrome type 4|micro syndrome 4|WARBURG micro syndrome 4; WARBM4|TBC1D20 Warburg micro syndrome|Warburg micro syndrome 4	http://purl.obolibrary.org/obo/MONDO_0014296	Any Warburg micro syndrome in which the cause of the disease is a mutation in the TBC1D20 gene.	http://identifiers.org/omim/615663|UMLS:C3810265|DOID:0110719
MONDO:0004878	female breast upper-outer quadrant cancer	biolink:Disease	mondo	DOID:9773|UMLS:C0153552|ICD10:C50.41|SCTID:188154003|ICD9:174.4			http://purl.obolibrary.org/obo/MONDO_0004878		SNOMEDCT:188154003|DOID:9773|UMLS:C0153552
MONDO:0002215	obsolete atypical teratoid rhabdoid tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002215		
MONDO:0002216	brain sarcoma	biolink:Disease	mondo	DOID:2132|NCIT:C5154|UMLS:C1332607		sarcoma of brain|primary brain sarcoma|sarcoma of the brain|brain sarcoma	http://purl.obolibrary.org/obo/MONDO_0002216	A sarcoma arising from the brain.	DOID:2132|NCIT:C5154|UMLS:C1332607
MONDO:0004877	transient neonatal thrombocytopenia	biolink:Disease	mondo	UMLS:C0158991|ICD9:776.1|DOID:9771|COHD:435076|SCTID:23205009|ICD10:P61.0			http://purl.obolibrary.org/obo/MONDO_0004877		DOID:9771|SNOMEDCT:23205009|UMLS:C0158991
MONDO:0002217	central nervous system sarcoma	biolink:Disease	mondo	DOID:2133|NCIT:C5153|UMLS:C1332892		CNS sarcoma|sarcoma of CNS|sarcoma of central nervous system|sarcoma of the CNS|sarcoma of the central nervous system|central nervous system sarcoma	http://purl.obolibrary.org/obo/MONDO_0002217	A sarcoma that arises from the central nervous system.	DOID:2133|NCIT:C5153|UMLS:C1332892
MONDO:0002218	temporal lobe cancer	biolink:Disease	mondo	SCTID:363468009|ICD9:191.2|COHD:4180907|UMLS:C0153636|ICD10:C71.2|DOID:2135		malignant temporal lobe neoplasm|temporal lobe neoplasm|malignant neoplasm of temporal lobe|neoplasm of temporal lobe|cancer of temporal lobe|tumor of temporal lobe|temporal lobe cancer	http://purl.obolibrary.org/obo/MONDO_0002218	A cancer that involves the temporal lobe.	DOID:2135|SNOMEDCT:363468009|UMLS:C0153636
MONDO:0004879	senile atrophy of choroid	biolink:Disease	mondo	ICD9:363.41|DOID:9776|SCTID:38513001|UMLS:C0154891			http://purl.obolibrary.org/obo/MONDO_0004879		SNOMEDCT:38513001|DOID:9776|UMLS:C0154891
MONDO:0002211	B cell deficiency	biolink:Disease	mondo	NCIT:C4799|ICD9:279.03|DOID:2115		immunoglobulin heavy chain deficiency|deficiency of humoral immunity|B cell (antibody) deficiencies|B-cell deficiency|immunoglobulin heavy chain deletion	http://purl.obolibrary.org/obo/MONDO_0002211	A broad classification of disorders where circulating numbers of B lymphocytes are decreased or ineffective. Complement components and the production of antibodies may also be deficient.	NCIT:C4799|DOID:2115
MONDO:0004874	ganglion or cyst of synovium/tendon/bursa	biolink:Disease	mondo	ICD9:727.49|DOID:9754			http://purl.obolibrary.org/obo/MONDO_0004874		DOID:9754
UBERON:0035041	deep temporal artery	biolink:AnatomicalEntity	mondo			anterior deep temporal artery|deep temporal branches|posterior deep temporal artery|deep temporal artery|deep temporal arteries	http://purl.obolibrary.org/obo/UBERON_0035041	The deep temporal arteries, two in number, anterior and posterior, ascend between the Temporalis and the pericranium. They supply the muscle, and anastomose with the middle temporal artery. The anterior communicates with the lacrimal artery by means of small branches which perforate the zygomatic bone and great wing of the sphenoid.	
MONDO:0002212	pneumonic tularemia	biolink:Disease	mondo	SCTID:45556008|ICD9:021.2|UMLS:C0339946|ICD10:A21.2|DOID:2122		pulmonary tularemia|bronchopneumonic tularemia|pneumonic tularaemia	http://purl.obolibrary.org/obo/MONDO_0002212	A tularemia that is located in lungs. The bacteria are transmitted by breathing dusts or aerosols containing the organisms. The infection has symptom cough, has symptom chest has symptom pain, and has symptom difficulty breathing.	UMLS:C0339946|DOID:2122|SNOMEDCT:45556008
MONDO:0004873	internal hemorrhoid	biolink:Disease	mondo	ICD9:455.2|UMLS:C0265034|DOID:9749|SCTID:90458007|ICD9:455.6|NCIT:C35319		internal hemorrhoid	http://purl.obolibrary.org/obo/MONDO_0004873	A hemorrhoid which originates above the dentate line.	DOID:9749|SNOMEDCT:90458007|NCIT:C35319|UMLS:C0265034
MONDO:0002213	obsolete tularemia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002213		
MONDO:0004876	myocardial stunning	biolink:Disease	mondo	UMLS:C0206146|MESH:D017682|DOID:9767			http://purl.obolibrary.org/obo/MONDO_0004876	Prolonged dysfunction of the myocardium after a brief episode of severe ischemia, with gradual return of contractile activity.	DOID:9767|MESH:D017682|UMLS:C0206146
MONDO:0004875	xanthogranulomatous cholecystitis	biolink:Disease	mondo	SCTID:448286002|GARD:0009451|NCIT:C35792|UMLS:C1337035|MESH:C536762|DOID:9766	gard_rare	CX	http://purl.obolibrary.org/obo/MONDO_0004875	Cholecystitis that is characterized by nodules containing lipid.	DOID:9766|NCIT:C35792|MESH:C536762|SNOMEDCT:448286002|UMLS:C1337035
MONDO:0002214	brain germinoma	biolink:Disease	mondo	UMLS:C1332606|NCIT:C6284|DOID:2127		germinoma of the brain|germinoma of brain|brain germinoma (disease)|intracranial germinoma	http://purl.obolibrary.org/obo/MONDO_0002214	A germinoma (disease) that involves the brain.	UMLS:C1332606|DOID:2127|NCIT:C6284
UBERON:0035045	parotid gland intralobular duct	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0035045	Any of the tubular canals of the parotid gland located within the parenchymal (secretory) tissue i.e. within lobules; both intercalated and striated (secretory) ducts are intralobular ducts.	
MONDO:0004870	obsolete diabetic neuropathy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004870		
MONDO:0004872	hemorrhoid	biolink:Disease	mondo	ICD9:455|ICD10:K64|SCTID:70153002|NCIT:C26792|MESH:D006484|DOID:9746|ICD9:455.8|UMLS:C0019112		hemorrhoidal disease|Hemorrhoids|hemorrhoid	http://purl.obolibrary.org/obo/MONDO_0004872	Dilated veins in the anal canal.	SNOMEDCT:70153002|NCIT:C26792|DOID:9746|UMLS:C0019112|MESH:D006484
MONDO:0002210	obsolete vulva squamous cell carcinoma	biolink:Disease	mondo			mammalian vulva squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0002210		
MONDO:0004871	perianal hematoma	biolink:Disease	mondo	SCTID:26373009|ICD9:455.4|ICD10:K64.5|DOID:9745|COHD:201045		external thrombosed haemorrhoids|Thrombosed external hemorrhoids	http://purl.obolibrary.org/obo/MONDO_0004871		DOID:9745|SNOMEDCT:26373009
UBERON:0035049	excretory duct of salivary gland	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0035049	Any of the interlobular excretory ducts of a salivary gland which are found in the connective tissue septa and formed by the union of several intralobular striated (secretory) ducts[MP,generalized].	
UBERON:0035048	parotid gland excretory duct	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0035048	Any of the interlobular excretory ducts of the parotid gland which are found in the connective tissue septa and formed by the union of several intralobular striated (secretory) ducts; ultimately, the excretory ducts of the parotid gland coalesce and form a single main excretory duct (Stensen's duct) that opens into the oral cavity; excretory ducts do not change the secretory product.	
MONDO:0014204	basal ganglia calcification, idiopathic, 5	biolink:Disease	mondo	UMLS:C3809645|OMIM:615483		basal ganglia calcification, idiopathic, type 5|basal ganglia calcification, idiopathic, 5; IBGC5|basal ganglia calcification, idiopathic, 5|IBGC5	http://purl.obolibrary.org/obo/MONDO_0014204		UMLS:C3809645|http://identifiers.org/omim/615483
MONDO:0016867	partial deletion of chromosome 2	biolink:Disease	mondo	ICD10:Q93.5|Orphanet:261771	ordo_group_of_disorders	partial monosomy of chromosome 2|partial deletion of chromosome type 2	http://purl.obolibrary.org/obo/MONDO_0016867		ORPHA:261771
MONDO:0014203	primary ciliary dyskinesia 25	biolink:Disease	mondo	ICD10:Q34.8|UMLS:C3809641|DOID:0110615|OMIM:615482		ciliary dyskinesia, primary, 25, with or without situs inversus|ciliary dyskinesia, primary, 25; CILD25|DNAAF4 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 25|CILD25|primary ciliary dyskinesia type 25|primary ciliary dyskinesia caused by mutation in DNAAF4|ciliary dyskinesia, primary, 25|primary ciliary dyskinesia 25 with or without situs inversus	http://purl.obolibrary.org/obo/MONDO_0014203	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF4 gene.	UMLS:C3809641|http://identifiers.org/omim/615482|DOID:0110615
MONDO:0016868	partial deletion of chromosome 3	biolink:Disease	mondo	Orphanet:261776|ICD10:Q93.5	ordo_group_of_disorders	partial deletion of chromosome type 3|partial monosomy of chromosome 3	http://purl.obolibrary.org/obo/MONDO_0016868		ORPHA:261776
MONDO:0016869	partial deletion of chromosome 4	biolink:Disease	mondo	Orphanet:261781	ordo_group_of_disorders	partial monosomy of chromosome 4|partial deletion of chromosome type 4	http://purl.obolibrary.org/obo/MONDO_0016869		ORPHA:261781
MONDO:0014202	primary ciliary dyskinesia 24	biolink:Disease	mondo	ICD10:Q34.8|DOID:0110628|OMIM:615481|UMLS:C3809634		ciliary dyskinesia, primary, 24; CILD24|primary ciliary dyskinesia 24 without situs inversus|ciliary dyskinesia, primary, 24, without situs inversus|RSPH1 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 24|primary ciliary dyskinesia caused by mutation in RSPH1|primary ciliary dyskinesia type 24|CILD24|ciliary dyskinesia, primary, 24	http://purl.obolibrary.org/obo/MONDO_0014202	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH1 gene.	http://identifiers.org/omim/615481|DOID:0110628|UMLS:C3809634
MONDO:0014201	developmental and epileptic encephalopathy, 18	biolink:Disease	mondo	Orphanet:369894|UMLS:C3809624|DOID:0080413|ICD10:G40.4|OMIM:615476	ordo_disease	epileptic encephalopathy, early infantile, 18; EIEE18|DEE18|epileptic encephalopathy, early infantile, 18|EIEE18|epileptic encephalopathy, early infantile, type 18|early infantile epileptic encephalopathy without suppression burst	http://purl.obolibrary.org/obo/MONDO_0014201		http://identifiers.org/omim/615476|DOID:0080413|ORPHA:369894|UMLS:C3809624
MONDO:0014208	Charcot-Marie-Tooth disease type 2R	biolink:Disease	mondo	OMIM:615490|Orphanet:397968|UMLS:C3809655|GARD:0012451|ICD10:G60.0|DOID:0110161	ordo_disease|gard_rare	Charcot-Marie-Tooth neuropathy, type 2R|autosomal recessive axonal Charcot-Marie-Tooth disease type 2R|Charcot-Marie-Tooth disease, axonal, type 2R|CMT2R|TRIM2 Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease, axonal, type 2R; CMT2R|Charcot-Marie-Tooth neuropathy type 2R|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2R|Charcot-Marie-Tooth disease type 2 caused by mutation in TRIM2	http://purl.obolibrary.org/obo/MONDO_0014208	Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the TRIM2 gene.	UMLS:C3809655|ORPHA:397968|http://identifiers.org/omim/615490|DOID:0110161
MONDO:0016863	Okihiro syndrome due to 20q13 microdeletion	biolink:Disease	mondo	UMLS:CN202208|ICD10:Q87.8|Orphanet:261638	ordo_etiological_subtype	Okihiro syndrome due to monosomy 20q13|Okihiro syndrome due to del(20)(q13)|Duane-radial ray syndrome due to monosomy 20q13	http://purl.obolibrary.org/obo/MONDO_0016863		UMLS:CN202208|ORPHA:261638
MONDO:0016864	Okihiro syndrome due to a point mutation	biolink:Disease	mondo	Orphanet:261647|UMLS:CN202209|ICD10:Q87.8	ordo_etiological_subtype	Duane-radial ray syndrome due to a point mutation	http://purl.obolibrary.org/obo/MONDO_0016864		UMLS:CN202209|ORPHA:261647
MONDO:0014207	age related macular degeneration 14	biolink:Disease	mondo	OMIM:615489|DOID:0110026		ARMD14|macular degeneration, age-related, 14; ARMD14|macular Degeneration, age-related, reduced risk of|macular degeneration, age-related, 14|macular Degeneration, age-related, type 14|age related macular degeneration type 14	http://purl.obolibrary.org/obo/MONDO_0014207	An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21.	http://identifiers.org/omim/615489|DOID:0110026
MONDO:0014206	severe early-onset pulmonary alveolar proteinosis due to MARS deficiency	biolink:Disease	mondo	Orphanet:440427|ICD10:J84.0|UMLS:C3809651|OMIM:615486	ordo_disease	interstitial lung and liver disease; ILLD|ILLD|interstitial lung and liver disease|hereditary pulmonary alveolar proteinosis with hepatic involvement|infantile liver failure syndrome 2, formerly|PAP, Reunion island type|infantile liver failure syndrome 2|pulmonary alveolar proteinosis, Reunion Island|pulmonary alveolar proteinosis, Reunion island type	http://purl.obolibrary.org/obo/MONDO_0014206		UMLS:C3809651|http://identifiers.org/omim/615486|ORPHA:440427
MONDO:0016865	Kleefstra syndrome due to a point mutation	biolink:Disease	mondo	ICD10:Q87.8|Orphanet:261652|UMLS:CN202210	ordo_etiological_subtype		http://purl.obolibrary.org/obo/MONDO_0016865		UMLS:CN202210|ORPHA:261652
MONDO:0014205	severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome	biolink:Disease	mondo	Orphanet:352577|UMLS:C3809650|ICD10:Q87.0|OMIM:615485	ordo_disease	BAINBRIDGE-ROPERS syndrome|BRPS|BAINBRIDGE-ROPERS syndrome; BRPS|Bainbridge-Roppers syndrome	http://purl.obolibrary.org/obo/MONDO_0014205		UMLS:C3809650|http://identifiers.org/omim/615485|ORPHA:352577
MONDO:0016866	partial deletion of chromosome 1	biolink:Disease	mondo	Orphanet:261766|ICD10:Q93.5	ordo_group_of_disorders	partial deletion of chromosome type 1|partial monosomy of chromosome 1	http://purl.obolibrary.org/obo/MONDO_0016866		ORPHA:261766
HGNC:11283	SRC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11283		
MONDO:0016860	familial adenomatous polyposis due to 5q22.2 microdeletion	biolink:Disease	mondo	UMLS:CN202203|Orphanet:261584|ICD10:D12.6	ordo_etiological_subtype	colorectal adenomatous polyposis due to monosomy 5q22.2|familial adenomatous polyposis due to monosomy 5q22.2|FAP due to monosomy 5q22.2|familial polyposis coli due to monosomy 5q22.2|familial adenomatous polyposis due to del(5)(q22.2)	http://purl.obolibrary.org/obo/MONDO_0016860		UMLS:CN202203|ORPHA:261584
MONDO:0016861	Alagille syndrome due to 20p12 microdeletion	biolink:Disease	mondo	Orphanet:261600|ICD10:Q44.7|UMLS:CN202205	ordo_etiological_subtype	Alagille-Watson syndrome due to monosomy 20p12|Alagille syndrome due to del(20)(p12)|Alagille syndrome due to monosomy 20p12|syndromic bile duct paucity due to monosomy 20p12|Arteriohepatic dysplasia due to monosomy 20p12	http://purl.obolibrary.org/obo/MONDO_0016861		UMLS:CN202205|ORPHA:261600
NCBITaxon:34105	Streptobacillus moniliformis	organism taxon	mondo	PMID:24912824|PMID:25858245|GC_ID:11		Haverhillia moniliformis|Proactinomyces muris|Streptothrix muris ratti|Actinomyces muris|Asterococcus muris|Nocardia muris|Actinomyces muris ratti|Haverhillia multiformis|"Actinobacillus muris" (de Mello and Pais 1918) Wilson and Miles 1955	http://purl.obolibrary.org/obo/NCBITaxon_34105		
HGNC:11281	SRA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11281		
MONDO:0016862	Alagille syndrome due to a JAG1 point mutation	biolink:Disease	mondo	OMIM:118450|UMLS:CN202206|Orphanet:261619|ICD10:Q44.7|UMLS:C1956125	ordo_etiological_subtype	Alagille-Watson syndrome|Alagille-Watson syndrome due to a JAG1 point mutation|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia due to a JAG1 point mutation|Alagille syndrome 1; ALGS1|syndromic bile duct paucity due to a JAG1 point mutation|Alagille syndrome 1|cholestasis with peripheral pulmonary stenosis|Alagille syndrome type 1|arteriohepatic dysplasia|ALGS1	http://purl.obolibrary.org/obo/MONDO_0016862		UMLS:CN202206|ORPHA:261619|http://identifiers.org/omim/118450|UMLS:C1956125
HGNC:11280	SQSTM1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11280		
MONDO:0014200	aldosterone-producing adenoma with seizures and neurological abnormalities	biolink:Disease	mondo	Orphanet:369929|ICD10:E26.0|UMLS:C3809609|OMIM:615474	ordo_disease	aldosterone-secreting adenoma with seizures and neurological abnormalities|primary aldosteronism, seizures, and neurologic abnormalities; PASNA|apa with seizures and neurological abnormalities|PASNA|Conn adenoma with seizures and neurological abnormalities|primary aldosteronism, seizures, and neurologic abnormalities	http://purl.obolibrary.org/obo/MONDO_0014200		http://identifiers.org/omim/615474|UMLS:C3809609|ORPHA:369929
MONDO:0002208	obsolete vulva adenocarcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002208		
MONDO:0002209	heel spur	biolink:Disease	mondo	MESH:D036982|UMLS:C0158322|COHD:73560|SCTID:55260003|ICD10:M77.3|DOID:210|ICD10:M77.30|ICD9:726.73		calcaneus exostosis|calcaneal spur	http://purl.obolibrary.org/obo/MONDO_0002209	A bony outgrowth on the lower surface of the calcaneus. Though often presenting along with plantar fasciitis (fasciitis, plantar), they are not considered causally related.	SNOMEDCT:55260003|MESH:D036982|DOID:210|UMLS:C0158322
NCBITaxon:34104	Streptobacillus	organism taxon	mondo	PMID:26438009|PMID:24912824|PMID:25858245|GC_ID:11		Haverhillia	http://purl.obolibrary.org/obo/NCBITaxon_34104		
HGNC:11285	SRD5A2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11285		
MONDO:0004889	total central choroidal atrophy	biolink:Disease	mondo	UMLS:C0154898|SCTID:392049002|ICD9:363.54|DOID:9820		total central choroidal atrophy|total central choroid atrophy|choroidal dystrophy, serpiginous|central gyrate choroidal dystrophy|total central dystrophy of choroid|helicoid choroid dystrophy	http://purl.obolibrary.org/obo/MONDO_0004889		UMLS:C0154898|DOID:9820|SNOMEDCT:392049002
MONDO:0002226	tuberculous oophoritis	biolink:Disease	mondo	SCTID:84194006|UMLS:C0275932|ICD9:016.60|ICD10:A18.17|DOID:2148|ICD9:016.6			http://purl.obolibrary.org/obo/MONDO_0002226	An urogenital tuberculosis involving a pathogenic inflammatory response in the ovary.	UMLS:C0275932|SNOMEDCT:84194006|DOID:2148
MONDO:0002227	ovarian lymphoma	biolink:Disease	mondo	UMLS:C1518720|DOID:2150|NCIT:C40021		ovarian lymphoma|primary ovarian lymphoma|ovary lymphoma|lymphoma of ovary	http://purl.obolibrary.org/obo/MONDO_0002227	A lymphoma that affects the ovary. Lymphomatous involvement of the ovary is rare and in approximately half of the cases both ovaries are affected.	UMLS:C1518720|NCIT:C40021|DOID:2150
MONDO:0004888	partial circumpapillary choroid dystrophy	biolink:Disease	mondo	ICD9:363.51|UMLS:C0154895|DOID:9811|SCTID:193466003			http://purl.obolibrary.org/obo/MONDO_0004888		UMLS:C0154895|SNOMEDCT:193466003|DOID:9811
SO:0000673	transcript	biolink:SequenceFeature	mondo			INSDC_feature:misc_RNA	http://purl.obolibrary.org/obo/SO_0000673	An RNA synthesized on a DNA or RNA template by an RNA polymerase.	
UBERON:0035050	excretory duct	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0035050		
MONDO:0002228	obsolete malignant ovarian surface epithelial-stromal neoplasm	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002228		
MONDO:0002229	ovarian epithelial tumor	biolink:Disease	mondo	NCIT:C4381|DOID:2152|SCTID:237057005|ONCOTREE:OVT|UMLS:C0341823|ICD9:239.5		epithelial tumor of ovary|ovarian surface epithelial-stromal tumor|ovary epithelial cancer|ovary epithelial neoplasm|ovarian surface-epithelial stromal neoplasm|epithelial tumor of the ovary|epithelial neoplasm of the ovary|OVT|ovarian epithelial tumor|epithelial neoplasm of ovary	http://purl.obolibrary.org/obo/MONDO_0002229	A benign, borderline, or malignant tumor that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples of benign tumors include serous cystadenoma, mucinous cystadenoma, and benign Brenner tumor. Representative examples of borderline tumors include serous surface papillary tumor, mucinous adenofibroma, and borderline Brenner tumor. Representative examples of malignant tumors include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, and malignant Brenner tumor.	UMLS:C0341823|NCIT:C4381|SNOMEDCT:237057005|DOID:2152
MONDO:0002222	urethra leiomyoma	biolink:Disease	mondo	NCIT:C6171|UMLS:C1336888|DOID:2142		leiomyoma of the urethra|leiomyoma of urethra|urethra leiomyoma|urethral leiomyoma	http://purl.obolibrary.org/obo/MONDO_0002222	A benign smooth muscle neoplasm arising from the urethra. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	UMLS:C1336888|DOID:2142|NCIT:C6171
MONDO:0004885	choroidal sclerosis	biolink:Disease	mondo	DOID:980|ICD9:363.4|SCTID:406446000|ICD9:363.40|ICD10:H31.10|ICD10:H31.1|MESH:C535358		neurodegenerative disease of optic choroid|optic choroid neurodegenerative disease|choroidal degenerations	http://purl.obolibrary.org/obo/MONDO_0004885	A neurodegenerative disease that involves the optic choroid.	DOID:980|MESH:C535358|SNOMEDCT:406446000
MONDO:0004884	eye degenerative disease	biolink:Disease	mondo	ICD9:360.4|ICD9:360.40|ICD9:360.2|SCTID:62585004|ICD10:H44.30|ICD9:360.20|ICD9:360.29|DOID:9799|UMLS:C0154777|ICD10:H44.5		degenerative disorder of globe|eye neurodegenerative disease|neurodegenerative disease of eyeball of camera-type eye|degenerative disorder of eye|eyeball of camera-type eye neurodegenerative disease	http://purl.obolibrary.org/obo/MONDO_0004884	A neurodegenerative disease that involves the eye.	DOID:9799|UMLS:C0154777|SNOMEDCT:62585004
MONDO:0002223	ovarian malignant mesothelioma	biolink:Disease	mondo	UMLS:C1518721|NCIT:C40444|DOID:2143		malignant mesothelioma (disease) of ovary|ovary malignant mesothelioma (disease)|ovarian malignant mesothelioma	http://purl.obolibrary.org/obo/MONDO_0002223	A rare malignant mesothelial neoplasm that usually involves both the ovarian surface and the ovarian stroma. In most cases there is bilateral ovarian involvement.	UMLS:C1518721|NCIT:C40444|DOID:2143
MONDO:0002224	malignant ovarian cyst	biolink:Disease	mondo	UMLS:C0235770|DOID:2145|NCIT:C3843		ovarian cyst (disease), malignant|malignant ovarian cyst|malignant ovarian cyst (disease)	http://purl.obolibrary.org/obo/MONDO_0002224	A cystic cancerous tumor arising from the ovary.	NCIT:C3843|UMLS:C0235770|DOID:2145
MONDO:0004887	obsolete polyarteritis nodosa	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004887		
MONDO:0002225	ovarian sarcoma	biolink:Disease	mondo	SCTID:423627007|NCIT:C8267|DOID:2146|UMLS:C0280746		ovary sarcoma|sarcoma of the ovary|ovarian sarcoma|sarcoma of ovary	http://purl.obolibrary.org/obo/MONDO_0002225	A rare, aggressive malignant mesenchymal neoplasm that arises from the ovary. The prognosis is poor.	SNOMEDCT:423627007|NCIT:C8267|DOID:2146|UMLS:C0280746
MONDO:0004886	diffuse secondary choroid atrophy	biolink:Disease	mondo	DOID:981|UMLS:C0154892|ICD9:363.42|ICD10:H31.12|SCTID:193463006			http://purl.obolibrary.org/obo/MONDO_0004886		UMLS:C0154892|SNOMEDCT:193463006|DOID:981
UBERON:0035053	interlobular duct of salivary gland	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0035053		
MONDO:0004881	myositis fibrosa	biolink:Disease	mondo	NCIT:C26985|ICD10:M60.1|COHD:75048|SCTID:55925001|DOID:9788|ICD9:728.81|UMLS:C0158362		interstitial myositis	http://purl.obolibrary.org/obo/MONDO_0004881	A form of myositis that is characterized by the formation of connective tissue within the muscle.	NCIT:C26985|UMLS:C0158362|SNOMEDCT:55925001|DOID:9788
MONDO:0004880	bowel dysfunction	biolink:Disease	mondo	ICD9:564.9|UMLS:C2004461|DOID:9779|SCTID:235594008|ICD10:K59.9		lower digestive tract disease|disease of lower digestive tract	http://purl.obolibrary.org/obo/MONDO_0004880	Any disease in which the causes of the disease is a perturbation of the lower digestive tract leading to its dysfunction.	UMLS:C2004461|SNOMEDCT:235594008|DOID:9779
GO:0048636	positive regulation of muscle organ development	biolink:OntologyClass	mondo			up regulation of muscle development|stimulation of muscle development|up-regulation of muscle development|activation of muscle development|upregulation of muscle development	http://purl.obolibrary.org/obo/GO_0048636	Any process that activates, maintains or increases the rate of muscle development.	
MONDO:0002220	tooth hard tissue disease	biolink:Disease	mondo	ICD10:K03.8|SCTID:46557008|ICD9:521.89|ICD10:K03|ICD9:521.8|ICD10:K03.89|UMLS:C0155926|DOID:214		teeth hard tissue diseases|disorder of hard tissues of teeth|teeth hard tissue disease	http://purl.obolibrary.org/obo/MONDO_0002220		DOID:214|SNOMEDCT:46557008|UMLS:C0155926
MONDO:0004883	hereditary choroidal atrophy	biolink:Disease	mondo	DOID:9794|ICD9:363.5|UMLS:C0154893|ICD10:H31.2|SCTID:74469006|ICD9:363.50|ICD10:H31.20			http://purl.obolibrary.org/obo/MONDO_0004883		DOID:9794|UMLS:C0154893|SNOMEDCT:74469006
GO:0048635	negative regulation of muscle organ development	biolink:OntologyClass	mondo			downregulation of muscle development|down regulation of muscle development|inhibition of muscle development|down-regulation of muscle development	http://purl.obolibrary.org/obo/GO_0048635	Any process that stops, prevents, or reduces the frequency, rate or extent of muscle development.	
MONDO:0002221	urethral urothelial papilloma	biolink:Disease	mondo	NCIT:C5061|UMLS:C1519826|DOID:2140		urethra urothelial papilloma|urethral urothelial papilloma	http://purl.obolibrary.org/obo/MONDO_0002221	Papilloma's are benign epithelial neoplasms that produce visible warty projections from epithelial surfaces. Papilloma's of the urethra typically occur just within or on the external meatus. - 2003	DOID:2140|NCIT:C5061|UMLS:C1519826
MONDO:0004882	angioid streaks of choroid	biolink:Disease	mondo	ICD9:363.43|DOID:979|SCTID:86103006|UMLS:C0002983		angioid streaks of optic choroid|optic choroid angioid streaks	http://purl.obolibrary.org/obo/MONDO_0004882	A angioid streaks that involves the optic choroid.	SNOMEDCT:86103006|UMLS:C0002983|DOID:979
GO:0048634	regulation of muscle organ development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0048634	Any process that modulates the frequency, rate or extent of muscle development.	
MONDO:0016849	obsolete Nakajo-Nishimura syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016849		
MONDO:0016856	Mowat-Wilson syndrome due to a ZEB2 point mutation	biolink:Disease	mondo	ICD10:Q43.1|Orphanet:261552|UMLS:CN202199	ordo_etiological_subtype	Hirschsprung disease and intellectual disability due to a ZEB2 point mutation	http://purl.obolibrary.org/obo/MONDO_0016856		UMLS:CN202199|ORPHA:261552
MONDO:0016857	blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome	biolink:Disease	mondo	Orphanet:261559|ICD10:Q10.3|UMLS:CN202200	ordo_etiological_subtype		http://purl.obolibrary.org/obo/MONDO_0016857	Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES, which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay.	UMLS:CN202200|ORPHA:261559
MONDO:0041825	bacterial meningitis caused by gram-negative bacteria	biolink:Disease	mondo	SCTID:425887005|UMLS:C0854215		bacterial meningitis caused by gram-negative bacteria|meningitis with gram negative bacteria|bacterial meningitis due to gram-negative bacteria|gram-negative bacterial meningitis	http://purl.obolibrary.org/obo/MONDO_0041825		UMLS:C0854215|SNOMEDCT:425887005
MONDO:0016858	blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome	biolink:Disease	mondo	ICD10:Q10.3|Orphanet:261572|UMLS:CN202201	ordo_etiological_subtype	blepharophimosis types 1 and 2 due to a point mutation	http://purl.obolibrary.org/obo/MONDO_0016858	Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure.	UMLS:CN202201|ORPHA:261572
MONDO:0016859	blepharophimosis-epicanthus inversus-ptosis due to copy number variations	biolink:Disease	mondo	Orphanet:261579|ICD10:Q10.3|UMLS:CN202202	ordo_etiological_subtype	blepharophimosis types 1 and 2 due to copy number variations|blepharophimosis-epicanthus inversus-ptosis due to a CNV	http://purl.obolibrary.org/obo/MONDO_0016859	Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement.	UMLS:CN202202|ORPHA:261579
MONDO:0016852	paternal uniparental disomy of chromosome X	biolink:Disease	mondo	Orphanet:261524|ICD10:Q99.8	ordo_malformation_syndrome	paternal uniparental disomy of chromosome type X|UPD(X)pat	http://purl.obolibrary.org/obo/MONDO_0016852		ORPHA:261524
MONDO:0016853	ring chromosome Y	biolink:Disease	mondo	SCTID:763407008|ICD10:Q98.6|Orphanet:261529	ordo_malformation_syndrome	Ring chromosome Y syndrome|r(Y)|Ring chromosome type Y	http://purl.obolibrary.org/obo/MONDO_0016853	Ring chromosome Y is a rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed.	ORPHA:261529|SNOMEDCT:763407008
MONDO:0016854	49,XXXYY syndrome	biolink:Disease	mondo	UMLS:CN202197|Orphanet:261534|GARD:0010922|ICD10:Q98.8	gard_rare|ordo_malformation_syndrome	XXXYY syndrome|49, XXXYY syndrome	http://purl.obolibrary.org/obo/MONDO_0016854	49, XXXYY syndrome is a chromosome abnormality that occurs when a male inherits two extra copies of the X chromosome and one extra copy of the Y chromosome. The condition is extremely rare with only a handful of cases reported in the medical literature. Signs and symptoms associated with these cases include severe intellectual disability, distinctive facial features, normal to tall stature, gynecomastia, hypogonadism, and behavioral abnormalities. 49, XXXYY syndrome is likely caused by a mistake (called nondisjunction) that occurs at conception or during the formation of the sperm and/or egg. Treatment is based on the signs and symptoms present in each person.	UMLS:CN202197|ORPHA:261534
MONDO:0016855	Mowat-Wilson syndrome due to monosomy 2q22	biolink:Disease	mondo	UMLS:CN202198|ICD10:Q43.1|Orphanet:261537	ordo_etiological_subtype	Hirschsprung disease and intellectual disability due to 2q22 microdeletion|Mowat-Wilson syndrome due to monosomy type 2q22|Hirschsprung disease and intellectual disability due to del(2)(q22)|Mowat-Wilson syndrome due to del(2)q(22)|Mowat-Wilson syndrome due to 2q22 microdeletion|Hirschsprung disease and intellectual disability due to monosomy 2q22	http://purl.obolibrary.org/obo/MONDO_0016855		UMLS:CN202198|ORPHA:261537
MONDO:0016850	atypical Norrie disease due to monosomy Xp11.3	biolink:Disease	mondo	Orphanet:261501|UMLS:C4518083|SCTID:733626002|ICD10:H35.5|UMLS:CN202196	ordo_malformation_syndrome	atypical Norrie disease due to Xp11.3 microdeletion|atypical Norrie disease due to del(X)(p11.3)	http://purl.obolibrary.org/obo/MONDO_0016850	Atypical Norrie disease due to monosomy Xp11.3 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behaviour. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported.	UMLS:C4518083|UMLS:CN202196|ORPHA:261501|SNOMEDCT:733626002
SO:0000669	sequence_rearrangement_feature	biolink:SequenceFeature	mondo			sequence rearrangement feature	http://purl.obolibrary.org/obo/SO_0000669	A feature where a segment of DNA has been rearranged from what it was in the parent cell.	
MONDO:0016851	maternal uniparental disomy of chromosome X	biolink:Disease	mondo	ICD10:Q99.8|Orphanet:261519	ordo_malformation_syndrome	maternal uniparental disomy of chromosome type X|UPD(X)mat	http://purl.obolibrary.org/obo/MONDO_0016851		ORPHA:261519
MONDO:0002219	paraurethral gland neoplasm	biolink:Disease	mondo	SCTID:126884005|DOID:2139|UMLS:C0341766|ICD9:239.5		tumor of paraurethral gland|paraurethral gland neoplasm (disease)|neoplasm of paraurethral glands|tumor of the paraurethral gland|neoplasm of paraurethral gland|paraurethral gland tumor	http://purl.obolibrary.org/obo/MONDO_0002219	A neoplasm (disease) that involves the paraurethral gland.	DOID:2139|SNOMEDCT:126884005|UMLS:C0341766
SO:0000663	tRNA_encoding	biolink:SequenceFeature	mondo			tRNA encoding	http://purl.obolibrary.org/obo/SO_0000663	A region that can be transcribed into a  transfer RNA (tRNA).	
MONDO:0004856	rosacea conjunctivitis	biolink:Disease	mondo	SCTID:10128002|UMLS:C0155152|DOID:9709|ICD9:372.31|COHD:378429			http://purl.obolibrary.org/obo/MONDO_0004856		UMLS:C0155152|SNOMEDCT:10128002|DOID:9709
HGNC:23247	DNAL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23247		
MONDO:0004855	tenosynovitis	biolink:Disease	mondo	UMLS:C0039520|MESH:D013717|DOID:970|EFO:1001435|SCTID:67801009		Inflammation of tendon sheath|inflammation of tendon sheath|Tenosynovitides|tendon sheath inflammation	http://purl.obolibrary.org/obo/MONDO_0004855	Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced.	SNOMEDCT:67801009|UMLS:C0039520|MESH:D013717|DOID:970
MONDO:0004858	occlusion of gallbladder	biolink:Disease	mondo	DOID:9714|SCTID:197416005|UMLS:C0156214|ICD9:575.2|ICD10:K82.0|COHD:192363		obstruction of gallbladder	http://purl.obolibrary.org/obo/MONDO_0004858	Blockage of the normal flow of the contents of the gallbladder.	UMLS:C0156214|SNOMEDCT:197416005|DOID:9714|NCIT:C78308
MONDO:0004857	tendinitis	biolink:Disease	mondo	ICD10:M77.9|DOID:971|MESH:D052256|SCTID:34840004|UMLS:C0039503|NCIT:C97141		inflammation of tendon|tendon inflammation|tendonitis	http://purl.obolibrary.org/obo/MONDO_0004857	Inflammation of a tendon, usually resulting from an overuse injury. It is characterized by swelling of the tendon, tenderness around the inflamed tendon, and pain while moving the affected area of the body.	DOID:971|MESH:D052256|NCIT:C97141|SNOMEDCT:34840004|UMLS:C0039503
HGNC:23246	MYPN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23246		
NCBITaxon:10114	Rattus	organism taxon	mondo	GC_ID:1		rats|rat	http://purl.obolibrary.org/obo/NCBITaxon_10114		
MONDO:0004852	gonococcal keratitis	biolink:Disease	mondo	ICD9:098.43|DOID:9697|ICD10:A54.33|UMLS:C0153214|SCTID:40149008			http://purl.obolibrary.org/obo/MONDO_0004852		UMLS:C0153214|DOID:9697|SNOMEDCT:40149008
MONDO:0004851	toxic myocarditis	biolink:Disease	mondo	UMLS:C0155691|ICD9:422.93|DOID:9694|SCTID:31993003			http://purl.obolibrary.org/obo/MONDO_0004851		UMLS:C0155691|DOID:9694|SNOMEDCT:31993003
NCBITaxon:10116	Rattus norvegicus	organism taxon	mondo	GC_ID:1		rats|brown rat|rat|Norway rat	http://purl.obolibrary.org/obo/NCBITaxon_10116		
MONDO:0004854	ophthalmia neonatorum	biolink:Disease	mondo	DOID:9699|NCIT:C116815|ICD10:P39.1|SCTID:34298002|COHD:372842|UMLS:C0029076|MESH:D009878|ICD9:771.6		gonococcal conjunctivitis (neonatorum)|gonococcal conjunctivitis|neonatal conjunctivitis|gonococcal ophthalmia neonatorum	http://purl.obolibrary.org/obo/MONDO_0004854	Inflammation of the conjunctiva in a newborn due to chemical or infectious causes. Aseptic conjunctivitis is often related to the use of prophylactic medications for infectious conjunctivitis. Septic conjunctivitis is related to perinatal exposure to microorganisms.	UMLS:C0029076|DOID:9699|SNOMEDCT:34298002|MESH:D009878|NCIT:C116815
MONDO:0004853	gonococcal endophthalmia	biolink:Disease	mondo	DOID:9698|ICD10:A54.39|UMLS:C0153213|SCTID:111807001|ICD9:098.42			http://purl.obolibrary.org/obo/MONDO_0004853		DOID:9698|UMLS:C0153213|SNOMEDCT:111807001
MONDO:0004850	obsolete yellow fever	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004850		
GO:0048646	anatomical structure formation involved in morphogenesis	biolink:OntologyClass	mondo			formation of an anatomical structure involved in morphogenesis	http://purl.obolibrary.org/obo/GO_0048646	The developmental process pertaining to the initial formation of an anatomical structure from unspecified parts. This process begins with the specific processes that contribute to the appearance of the discrete structure and ends when the structural rudiment is recognizable. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome.	
MONDO:0016838	16q24.3 microdeletion syndrome	biolink:Disease	mondo	UMLS:C4304594|Orphanet:261250|UMLS:CN202174|GARD:0010935|ICD10:Q93.5|SCTID:719580004	ordo_malformation_syndrome|gard_rare	Del(16)(q24.3)|monosomy 16q24.3|chromosome 16q24.3 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016838	16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.	UMLS:C4304594|SNOMEDCT:719580004|UMLS:CN202174|ORPHA:261250
MONDO:0016839	distal 17p13.3 microdeletion syndrome	biolink:Disease	mondo	ICD10:Q93.5|UMLS:CN202175|SCTID:764696007|Orphanet:261257	ordo_malformation_syndrome	distal del(17)(p13.3)|distal monosomy 17p13.3	http://purl.obolibrary.org/obo/MONDO_0016839	Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly.	SNOMEDCT:764696007|UMLS:CN202175|ORPHA:261257
MONDO:0016845	21q22.11q22.12 microdeletion syndrome	biolink:Disease	mondo	UMLS:CN202185|Orphanet:261323|ICD10:Q93.5	ordo_malformation_syndrome	Del(21)(q22.11q22.12)|21q22.11-q22.12 microdeletion syndrome|monosomy 21q22.11q22.12|monosomy 21q22.11-q22.12	http://purl.obolibrary.org/obo/MONDO_0016845		ORPHA:261323|UMLS:CN202185
MONDO:0016846	distal 22q11.2 microduplication syndrome	biolink:Disease	mondo	UMLS:CN202187|ICD10:Q92.3|Orphanet:261337|SCTID:764524005	ordo_malformation_syndrome	distal trisomy 22q11.2|distal dup(22)(q11.2)	http://purl.obolibrary.org/obo/MONDO_0016846	Distal 22q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslating palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, behavourial problems and seizures have also been reported.	UMLS:CN202187|SNOMEDCT:764524005|ORPHA:261337
GO:0061620	glycolytic process through glucose-6-phosphate	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0061620	The chemical reactions and pathways resulting in the breakdown of a carbohydrate into pyruvate, occurring through a glucose-6-phosphate intermediate, with the concomitant production of a small amount of ATP.	
MONDO:0016847	trisomy 1q	biolink:Disease	mondo	ICD10:Q92.2|SCTID:768927001|Orphanet:261344	ordo_malformation_syndrome	Duplication 1q|trisomy type 1q	http://purl.obolibrary.org/obo/MONDO_0016847	Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections.	SNOMEDCT:768927001|ORPHA:261344
MONDO:0016848	juvenile temporal arteritis	biolink:Disease	mondo	SCTID:722020006|GARD:0003068|UMLS:C0751547|Orphanet:26137|ICD10:L95.8	ordo_disease|gard_rare	non-giant cell granulomatous temporal arteritis with eosinophilia|JTA|juvenile polymyalgia rheumatica|juvenile cranial arteritis|JGCA|JPMR|juvenile giant cell arteritis	http://purl.obolibrary.org/obo/MONDO_0016848	Juvenile temporal arteritis is a rare form of vasculitis, a group of conditions that cause inflammation of the blood vessels. Unlike the classic form of temporal arteritis, this condition is generally diagnosed in late childhood or early adulthood and only affects the temporal arteries (located at the lower sides of the skull, directly underneath the temple). Affected people often have no signs or symptoms aside from a painless nodule or lump in the temporal region. The exact underlying cause of the condition is unknown. It generally occurs sporadically in people with no family history of the condition. Juvenile temporal arteritis is often treated with surgical excision and rarely recurs.	UMLS:C0751547|SNOMEDCT:722020006|ORPHA:26137
NCBITaxon:85708	Porcine circovirus 2	organism taxon	mondo	GC_ID:1		Porcine circovirus-2|Porcine circovirus type 2|PCV2|Porcine circovirus Type II	http://purl.obolibrary.org/obo/NCBITaxon_85708		
MONDO:0016841	20p12.3 microdeletion syndrome	biolink:Disease	mondo	UMLS:C4304539|GARD:0012492|UMLS:CN202180|ICD10:Q93.5|SCTID:719650004|Orphanet:261295	ordo_malformation_syndrome|gard_rare	Del(20)(p12.3)|monosomy 20p12.3	http://purl.obolibrary.org/obo/MONDO_0016841	20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism.	SNOMEDCT:719650004|UMLS:CN202180|ORPHA:261295|UMLS:C4304539
GO:0061622	glycolytic process through glucose-1-phosphate	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0061622	The chemical reactions and pathways through a glucose-1-phosphate intermediate that result in the catabolism of a carbohydrate into pyruvate, with the concomitant production of a small amount of ATP.	
MONDO:0016842	paternal 20q13.2q13.3 microdeletion syndrome	biolink:Disease	mondo	ICD10:Q93.5|UMLS:C4510306|Orphanet:261304|UMLS:CN202182|SCTID:724070005	ordo_malformation_syndrome	paternal del(20)(q13.2q13.3)|paternal monosomy 20q13.2-q13.3|paternal 20q13.2-q13.3 microdeletion syndrome|paternal monosomy 20q13.2q13.3	http://purl.obolibrary.org/obo/MONDO_0016842	Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.	UMLS:C4510306|SNOMEDCT:724070005|ORPHA:261304|UMLS:CN202182
MONDO:0016843	20q13.33 microdeletion syndrome	biolink:Disease	mondo	UMLS:CN202183|SCTID:733520002|Orphanet:261311|UMLS:C4518823|ICD10:Q93.5	ordo_malformation_syndrome	Del(20)(q13.33)|monosomy 20q13.33	http://purl.obolibrary.org/obo/MONDO_0016843	20q13.33 is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated.	SNOMEDCT:733520002|ORPHA:261311|UMLS:CN202183|UMLS:C4518823
MONDO:0016844	trisomy 20p	biolink:Disease	mondo	Orphanet:261318|GARD:0005333|MESH:C535371|ICD10:Q92.2|ICD9:758.5|SCTID:111311004	gard_rare|ordo_malformation_syndrome	20p duplication|Duplication 20p|Duplication of 20p|partial trisomy of chromosome 20p|trisomy 20p|chromosome 20p duplication|partial duplication of chromosome 20p|partial trisomy of the short arm of chromosome 20|partial trisomy 20p|dup(20p)|20p trisomy|trisomy type 20p|partial duplication of the short arm of chromosome 20	http://purl.obolibrary.org/obo/MONDO_0016844	Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features.	UMLS:C2930888|ORPHA:261318|SNOMEDCT:111311004|UMLS:C0265480|MESH:C535371
GO:0061626	pharyngeal arch artery morphogenesis	biolink:OntologyClass	mondo			aortic arch artery morphogenesis	http://purl.obolibrary.org/obo/GO_0061626	The process in which the anatomical structures of a pharyngeal arch artery is generated and organized. The pharyngeal arch arteries are a series of six paired embryological vascular structures, the development of which give rise to several major arteries, such as the stapedial artery, the middle meningeal artery, the internal carotid artery and the pulmonary artery.	
MONDO:0016840	trisomy 17p	biolink:Disease	mondo	UMLS:C0795865|MESH:C538048|Orphanet:261290|ICD10:Q92.2|GARD:0005318|SCTID:717049005	ordo_malformation_syndrome	dup(17p)|trisomy type 17p|chromosome 17p duplication|partial trisomy 17p|17p trisomy|17p duplication|Duplication 17p	http://purl.obolibrary.org/obo/MONDO_0016840	Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features.	SNOMEDCT:717049005|MESH:C538048|ORPHA:261290|UMLS:C0795865
MONDO:0004849	pulmonary emphysema	biolink:Disease	mondo	DOID:9675|ICD10:J43|SCTID:87433001|EFO:0000464|ICD9:492|ICD9:492.8|NCIT:C3348|MESH:D004646|GARD:0011937|MESH:D011656|ICD10:J43.8|COHD:261325|DC:0000512		emphysema|emphysema, pulmonary	http://purl.obolibrary.org/obo/MONDO_0004849	A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing.	MESH:D011656|DOID:9675|MESH:D004646|NCIT:C3348|SNOMEDCT:87433001
MONDO:0004848	ulcerative stomatitis	biolink:Disease	mondo	NCIT:C35039|UMLS:C0038367|ICD9:528.00|DOID:9673|SCTID:450005|ICD10:K12.1		ulcerative stomatitis	http://purl.obolibrary.org/obo/MONDO_0004848	Inflammation of the mouth mucosa associated with the presence of ulcers.	UMLS:C0038367|DOID:9673|SNOMEDCT:450005|NCIT:C35039
MONDO:0002204	transient arthritis	biolink:Disease	mondo	ICD9:716.4|ICD10:M12.8|SCTID:6011000119108|DOID:2092|UMLS:C0152083|ICD9:716.40|UMLS:C3887596		transient arthropathy	http://purl.obolibrary.org/obo/MONDO_0002204	Arthritis that is not permanent.	DOID:2092|SNOMEDCT:6011000119108|UMLS:C0152083|UMLS:C3887596
MONDO:0004867	upper respiratory tract disease	biolink:Disease	mondo	ICD9:478.1|ICD9:478.19|DOID:974|SCTID:201060008|ICD9:478.9		disease of upper respiratory tract|upper respiratory tract disease or disorder|disorder of upper respiratory tract|disorder of upper respiratory tract|upper respiratory tract disease|disease or disorder of upper respiratory tract	http://purl.obolibrary.org/obo/MONDO_0004867	A disease involving the upper respiratory tract.	SNOMEDCT:201060008|DOID:974
MONDO:0004866	eustachian tube disease	biolink:Disease	mondo	ICD9:381.9|UMLS:C0271468|ICD9:381.89|ICD9:381.8|ICD10:H68|DOID:9739|SCTID:69494008		disease or disorder of pharyngotympanic tube|eustachian tube disorder|pharyngotympanic tube disease or disorder|disease of eustachian tube|disease of pharyngotympanic tube|disorder of eustachian tube|disorder of pharyngotympanic tube|auditory tube disorder|pharyngotympanic tube disease|disorder of pharyngotympanic tube	http://purl.obolibrary.org/obo/MONDO_0004866	A disease involving the pharyngotympanic tube.	DOID:9739|UMLS:C0271468|SNOMEDCT:69494008
MONDO:0002205	vulvar melanoma (disease)	biolink:Disease	mondo	NCIT:C40329|SCTID:254896002|DOID:2093|HP:0030418|UMLS:C0241989		mammalian vulva melanoma (disease)|vulvar melanoma|mammalian vulva melanoma|malignant melanoma of vulva|melanoma (disease) of mammalian vulva	http://purl.obolibrary.org/obo/MONDO_0002205	A usually pigmented, nodular or polypoid malignant neoplasm that originates from melanocytes and arises from the vulva. It presents with bleeding and dysuria.	DOID:2093|SNOMEDCT:254896002|NCIT:C40329|UMLS:C0241989
MONDO:0002206	sweat gland cancer	biolink:Disease	mondo	UMLS:C1321904|DOID:2095|ICD10:C44|NCIT:C4810		sweat gland neoplasms, malignant|malignant tumor of the sweat gland|sweat gland cancer|malignant neoplasm of sweat gland|malignant neoplasm of the sweat gland|malignant sweat gland neoplasm|cancer of sweat gland|malignant tumor of sweat gland	http://purl.obolibrary.org/obo/MONDO_0002206	A malignant neoplasm that affects the sweat glands.	DOID:2095|NCIT:C4810|UMLS:C1321904
MONDO:0004869	pelvic varices	biolink:Disease	mondo	DOID:9742|ICD9:456.5|SCTID:17406005|ICD10:I86.2|UMLS:C0155795|COHD:197311		varicose disease of pelvic region of trunk|pelvic region of trunk varicose disease	http://purl.obolibrary.org/obo/MONDO_0004869	A varicose disease that involves the pelvic region of trunk.	UMLS:C0155795|DOID:9742|SNOMEDCT:17406005
MONDO:0004868	biliary tract disease	biolink:Disease	mondo	DOID:9741|ICD9:576.9|SCTID:105997008|ICD10:K83.9|MESH:D001660		disorder of biliary tree|disease or disorder of biliary tree|disease of biliary tree|biliary tree disease|biliary tree disease or disorder|disorder of biliary tree	http://purl.obolibrary.org/obo/MONDO_0004868	A disease involving the biliary tree.	DOID:9741|MESH:D001660|SNOMEDCT:105997008
MONDO:0002207	vulval Paget disease	biolink:Disease	mondo	DOID:2097|SCTID:254898001|ICD9:233.39|UMLS:C1275217|NCIT:C4027		vulva Paget's disease|Paget's disease of the vulva|Paget's disease of vulva|vulvar Paget's disease|vulval Paget disease|Paget disease of the vulva|mammalian vulva Paget disease|vulval Paget's disease	http://purl.obolibrary.org/obo/MONDO_0002207	An uncommon intraepithelial malignant neoplasm of eccrine or apocrine origin, arising from the vulva. It usually affects post-menopausal women. In approximately 10-20% of the cases there is an associated anorectal, or urothelial carcinoma or a skin appendage adenocarcinoma identified. It presents as a red, eczematous lesion. Microscopically, it is characterized by the presence of the typical Paget cells which are large, round cells with abundant cytoplasm and prominent nuclei.	DOID:2097|SNOMEDCT:254898001|UMLS:C1275217|NCIT:C4027
MONDO:0004863	purulent endophthalmitis	biolink:Disease	mondo	UMLS:C0259800|ICD10:H44.0|ICD10:H44.00|SCTID:41720003|ICD9:360.0|ICD9:360.00|DOID:9724|COHD:432621			http://purl.obolibrary.org/obo/MONDO_0004863		UMLS:C0259800|SNOMEDCT:41720003|DOID:9724
MONDO:0002200	eccrine mixed tumor of skin	biolink:Disease	mondo	SCTID:254720009|NCIT:C4474|EFO:1000385|DOID:2079|UMLS:C0346026		benign mixed tumor of the skin (chondroid syringoma)|eccrine mixed tumor|chondroid syringoma|eccrine sweat gland mixed neoplasm|mixed eccrine neoplasm of the skin|mixed tumor of the skin (chondroid syringoma)|benign mixed tumor of skin|benign mixed tumor of the skin|eccrine mixed tumor (morphologic abnormality)|benign mixed tumor of skin (chondroid syringoma)	http://purl.obolibrary.org/obo/MONDO_0002200	A rare, benign, slow-growing and painless neoplasm of sweat glands. It usually arises in the head and neck. It is characterized by the presence of a mesenchymal chondroid stroma, fibrosis, and epithelial structures.	NCIT:C4474|UMLS:C0346026|SNOMEDCT:254720009|DOID:2079
UBERON:0035074	duct of apocrine sweat gland	biolink:AnatomicalEntity	mondo			ductal part of apocrine sweat gland	http://purl.obolibrary.org/obo/UBERON_0035074		
MONDO:0004862	vitreous abscess	biolink:Disease	mondo	UMLS:C0042904|ICD9:360.04|SCTID:48142003|DOID:9723			http://purl.obolibrary.org/obo/MONDO_0004862		DOID:9723|SNOMEDCT:48142003|UMLS:C0042904
MONDO:0002201	vulvar trichoepithelioma	biolink:Disease	mondo	UMLS:C1520100|NCIT:C40314|DOID:2080		trichoblastoma of mammalian vulva|vulvar trichoblastoma|vulvar trichoepithelioma|mammalian vulva trichoblastoma	http://purl.obolibrary.org/obo/MONDO_0002201	A benign neoplasm that arises from the vulva and is characterized by the presence of nests of monomorphic basaloid cells forming small cysts that contain keratin.	UMLS:C1520100|NCIT:C40314|DOID:2080
UBERON:0035073	duct of eccrine sweat gland	biolink:AnatomicalEntity	mondo			ductal part of eccrine sweat gland	http://purl.obolibrary.org/obo/UBERON_0035073		
MONDO:0002202	outlet dysfunction constipation	biolink:Disease	mondo	DOID:2088|ICD9:564.02|ICD10:K59.02			http://purl.obolibrary.org/obo/MONDO_0002202		DOID:2088
MONDO:0004865	blue drum syndrome	biolink:Disease	mondo	SCTID:52353000|COHD:374049|ICD9:381.02|DOID:9736|UMLS:C0395863		acute non-suppurative otitis media - mucoid|blue drum syndrome|acute mucoid otitis media	http://purl.obolibrary.org/obo/MONDO_0004865	A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color.	UMLS:C0395863|DOID:9736|SNOMEDCT:52353000
MONDO:0002203	constipation disorder	biolink:Disease	mondo	DOID:2089|ICD10:K59.0|ICD9:564.0|COHD:75860|ICD9:564.00|MESH:D003248|NCIT:C37930|SCTID:14760008|ICD10:K59.00|HP:0002019		constipation|colonic inertia|Dyschezia	http://purl.obolibrary.org/obo/MONDO_0002203	Irregular and infrequent or difficult evacuation of the bowels.	DOID:2089|MESH:D003248|NCIT:C37930|SNOMEDCT:14760008
MONDO:0004864	acute allergic mucoid otitis media	biolink:Disease	mondo	SCTID:8326008|ICD9:381.05|UMLS:C0155419|DOID:9735			http://purl.obolibrary.org/obo/MONDO_0004864	A blue drum syndrome caused by an allergen.	UMLS:C0155419|DOID:9735|SNOMEDCT:8326008
NCBITaxon:10128	Apodemus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_10128		
UBERON:0035075	thymus subunit	biolink:AnatomicalEntity	mondo			lobe or lobule of thymus	http://purl.obolibrary.org/obo/UBERON_0035075		
UBERON:0035078	parotid gland interlobular duct	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0035078	Any of the excretory ducts of the parotid gland which are found in the connective tissue septa i.e. between lobules	
MONDO:0004861	ophthalmia nodosa	biolink:Disease	mondo	UMLS:C0154775|ICD10:H16.24|ICD9:360.14|SCTID:12371008|DOID:9722			http://purl.obolibrary.org/obo/MONDO_0004861		UMLS:C0154775|SNOMEDCT:12371008|DOID:9722
MONDO:0041850	pneumonia caused by gram negative bacteria	biolink:Disease	mondo	SCTID:430395005|UMLS:C0854248		pneumonia due to gram negative bacteria|pneumonia caused by gram negative bacteria|pneumonia due to gram-negative bacteria|pneumonia caused by gram-negative bacteria|gram negative pneumonia	http://purl.obolibrary.org/obo/MONDO_0041850		SNOMEDCT:430395005|UMLS:C0854248
MONDO:0004860	vitreous disease	biolink:Disease	mondo	DOID:9720|ICD9:379.24|ICD10:H43.39|ICD10:H43.3		vitreous humor disease or disorder|disorder of vitreous humor|disease of vitreous humor|disorder of vitreous humor|disease or disorder of vitreous humor|vitreous humor disease	http://purl.obolibrary.org/obo/MONDO_0004860	A disease involving the vitreous humor.	DOID:9720
MONDO:0016827	myopathy-growth delay-intellectual disability-hypospadias syndrome	biolink:Disease	mondo	Orphanet:2601|UMLS:CN230273|ICD10:G71.8	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0016827		UMLS:CN230273|ORPHA:2601
MONDO:0016828	autosomal recessive sideroblastic anemia	biolink:Disease	mondo	ICD10:D64.0|Orphanet:260305|UMLS:C4274077|SCTID:717050005	ordo_disease	congenital sideroblastic anemia|ARSA|sideroblastic anemia, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0016828	Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.	SNOMEDCT:717050005|UMLS:C4274077|ORPHA:260305
MONDO:0016829	familial visceral myopathy	biolink:Disease	mondo	SCTID:63684002|GARD:0003443|UMLS:CN202146|ICD9:359.89|UMLS:C0266833|ICD10:K56.0|UMLS:C1835084|Orphanet:2604	ordo_disease	hereditary hollow visceral myopathy|familial hollow visceral myopathy|Megaduodenum and/or megacystis|pseudoobstruction idiopathic intestinal|visceral myopathy familial	http://purl.obolibrary.org/obo/MONDO_0016829	Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.	ORPHA:2604|UMLS:C0266833|SNOMEDCT:63684002|UMLS:C1835084|UMLS:CN202146
MONDO:0016834	16p11.2p12.2 microduplication syndrome	biolink:Disease	mondo	UMLS:CN202168|ICD10:Q92.3|SCTID:733518000|Orphanet:261204|UMLS:C4518821	ordo_malformation_syndrome	trisomy 16p11.2p12.2|dup(16)(p11.2p12.2)	http://purl.obolibrary.org/obo/MONDO_0016834	16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behaviour, behavioural problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described.	ORPHA:261204|UMLS:CN202168|UMLS:C4518821|SNOMEDCT:733518000
MONDO:0016835	14q11.2 microduplication syndrome	biolink:Disease	mondo	Orphanet:261229|ICD10:Q92.3|UMLS:CN202171	ordo_malformation_syndrome	trisomy 14q11.2|dup(14)(q11.2)	http://purl.obolibrary.org/obo/MONDO_0016835	14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate.	ORPHA:261229|UMLS:CN202171
MONDO:0016836	16p13.11 microdeletion syndrome	biolink:Disease	mondo	ICD10:Q93.5|SCTID:719577000|UMLS:CN202172|Orphanet:261236|UMLS:C4304596	ordo_malformation_syndrome	monosomy 16p13.11|Del(16)(p13.11)	http://purl.obolibrary.org/obo/MONDO_0016836	16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems.	UMLS:C4304596|ORPHA:261236|UMLS:CN202172|SNOMEDCT:719577000
HGNC:11278	SPTLC2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11278		
MONDO:0016837	16p13.11 microduplication syndrome	biolink:Disease	mondo	UMLS:C4304595|ICD10:Q92.3|SCTID:719578005|UMLS:CN202173|GARD:0013392|Orphanet:261243	gard_rare|ordo_malformation_syndrome	dup(16)(p13.11)|trisomy 16p13.11	http://purl.obolibrary.org/obo/MONDO_0016837	16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.	UMLS:C4304595|ORPHA:261243|UMLS:CN202173|SNOMEDCT:719578005
HGNC:11277	SPTLC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11277		
MONDO:0016830	Emery-Dreifuss muscular dystrophy	biolink:Disease	mondo	SCTID:111508004|Orphanet:261|ICD10:G71.0|GARD:0006329|OMIMPS:310300|UMLS:C0410189|DOID:11726|MESH:D020389|NCIT:C84685	ordo_disease	Humeroperoneal neuromuscular disease, (formerly)|scapuloperoneal syndrome, X-linked (formerly)|EDMD	http://purl.obolibrary.org/obo/MONDO_0016830	Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy.	DOID:11726|SNOMEDCT:111508004|NCIT:C84685|MESH:D020389|UMLS:C0410189|ORPHA:261
MONDO:0016831	linear verrucous nevus syndrome	biolink:Disease	mondo	ICD10:Q82.5|UMLS:CN202159|Orphanet:2611|GARD:0003259	ordo_disease	linear hamartoma syndrome	http://purl.obolibrary.org/obo/MONDO_0016831		UMLS:CN202159|ORPHA:2611
MONDO:0016832	distal 7q11.23 microduplication syndrome	biolink:Disease	mondo	ICD10:Q92.3|UMLS:CN202160|Orphanet:261102	ordo_malformation_syndrome	Dup7q11.23D|distal dup(7)(q11.23)|distal trisomy 7q11.23	http://purl.obolibrary.org/obo/MONDO_0016832	Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported.	UMLS:CN202160|ORPHA:261102
MONDO:0016833	14q12 microdeletion syndrome	biolink:Disease	mondo	UMLS:C4305240|UMLS:CN202163|ICD10:Q93.5|SCTID:719574007|Orphanet:261144	ordo_malformation_syndrome	monosomy 14q12|Del(14)(q12)	http://purl.obolibrary.org/obo/MONDO_0016833	14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.	SNOMEDCT:719574007|ORPHA:261144|UMLS:CN202163|UMLS:C4305240
GO:0061615	glycolytic process through fructose-6-phosphate	biolink:OntologyClass	mondo			glycolysis through fructose-6-phosphate	http://purl.obolibrary.org/obo/GO_0061615	The chemical reactions and pathways resulting in the breakdown of a monosaccharide into pyruvate, occurring through a fructose-6-phosphate intermediate, with the concomitant production of ATP and NADH.	
HGNC:11272	SPTA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11272		
HGNC:11270	SPRY2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11270		
NCBITaxon:36734	Unikaryonidae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_36734		
HGNC:11276	SPTBN2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11276		
MONDO:0004859	hydrops of gallbladder	biolink:Disease	mondo	ICD9:575.3|ICD10:K82.1|COHD:195307|SCTID:47312008|DOID:9717|UMLS:C0152445			http://purl.obolibrary.org/obo/MONDO_0004859		DOID:9717|UMLS:C0152445|SNOMEDCT:47312008
HGNC:11274	SPTB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11274		
HGNC:11273	SPTAN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11273		
MONDO:0002259	gonadal disease	biolink:Disease	mondo	NCIT:C26786|MESH:D006058|DOID:2277|UMLS:C0018050		gonadal disorder|disease of gonad|gonadal disorders|gonad disease or disorder|disorder of gonad|disorder of gonads|gonad disease|disorder of gonad|disease or disorder of gonad	http://purl.obolibrary.org/obo/MONDO_0002259	A non-neoplastic or neoplastic disorder that affects the testis or the ovary.	MESH:D006058|DOID:2277|UMLS:C0018050|NCIT:C26786
GO:1903829	positive regulation of cellular protein localization	biolink:OntologyClass	mondo			up regulation of channel localizer activity|upregulation of cellular protein localization|up-regulation of cellular protein localisation|up-regulation of channel localizer activity|up regulation of cellular protein localisation|activation of cellular protein localisation|positive regulation of cellular protein localisation|activation of channel localizer activity|upregulation of channel localizer activity|up-regulation of cellular protein localization|upregulation of cellular protein localisation|up regulation of cellular protein localization|activation of cellular protein localization|positive regulation of channel localizer activity	http://purl.obolibrary.org/obo/GO_1903829	Any process that activates or increases the frequency, rate or extent of cellular protein localization. Cellular protein localization is any process in which a protein is transported to, and/or maintained in, a specific location and encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell.	
GO:1903828	negative regulation of cellular protein localization	biolink:OntologyClass	mondo			downregulation of cellular protein localisation|inhibition of cellular protein localisation|down-regulation of cellular protein localization|downregulation of channel localizer activity|down regulation of cellular protein localization|down regulation of channel localizer activity|inhibition of cellular protein localization|downregulation of cellular protein localization|negative regulation of channel localizer activity|down-regulation of channel localizer activity|down-regulation of cellular protein localisation|negative regulation of cellular protein localisation|inhibition of channel localizer activity|down regulation of cellular protein localisation	http://purl.obolibrary.org/obo/GO_1903828	Any process that stops, prevents or reduces the frequency, rate or extent of cellular protein localization. Cellular protein localization is any process in which a protein is transported to, and/or maintained in, a specific location and encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell.	
GO:1903827	regulation of cellular protein localization	biolink:OntologyClass	mondo			regulation of cellular protein localisation|regulation of channel localizer activity	http://purl.obolibrary.org/obo/GO_1903827	Any process that modulates the frequency, rate or extent of cellular protein localization. Cellular protein localization is any process in which a protein is transported to, and/or maintained in, a specific location and encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell.	
MONDO:0002255	hypertrophic elongation of cervix	biolink:Disease	mondo	ICD10:N88.4|UMLS:C0020561|COHD:194088|SCTID:198353000|ICD9:622.6|DOID:2251			http://purl.obolibrary.org/obo/MONDO_0002255		DOID:2251|SNOMEDCT:198353000|UMLS:C0020561
MONDO:0002256	cervix disease	biolink:Disease	mondo	SCTID:63339007|DOID:2253|NCIT:C40241|MESH:D002577|UMLS:C0007867		disease of uterine cervix|disorder of uterine cervix|disease or disorder of uterine cervix|uterine cervix disease|cervical disorder|uterine cervix disease or disorder|disorder of uterine cervix	http://purl.obolibrary.org/obo/MONDO_0002256	A non-neoplastic or neoplastic disorder that affects the cervix. Representative examples include cervicitis, endocervical polyp, and carcinoma.	NCIT:C40241|MESH:D002577|SNOMEDCT:63339007|DOID:2253|UMLS:C0007867
MONDO:0002257	ankylosis (disease)	biolink:Disease	mondo	ICD10:M24.6|ICD9:718.50|SCTID:111227009|DOID:227|HP:0031013|MESH:D000844|ICD9:718.5		ankylosis	http://purl.obolibrary.org/obo/MONDO_0002257	Fixation and immobility of a joint.	DOID:227|SNOMEDCT:111227009|MESH:D000844
GO:1903825	organic acid transmembrane transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1903825	The process in which an organic acid is transported across a membrane.	
MONDO:0002258	pharyngitis	biolink:Disease	mondo	ICD10:J02.9|ICD9:462|ICD9:472|NCIT:C26851|ICD9:478.20|SCTID:405737000|UMLS:C0031350|DOID:2275|MESH:D010612|ICD10:J02		acute pharyngitis|chronic pharyngitis|pharyngitis - acute|persistent sore throat|Sore throat|chronic sore throat|chronic pharyngitis and nasopharyngitis|pharyngeal disorder|inflamed throat|acute sore throat|chronic pharyn/nasopharyngitis|Sore throat - chronic|inflammation of throat|throat inflammation|pharyngeal disease	http://purl.obolibrary.org/obo/MONDO_0002258	Inflammation of the throat most often caused by viral and bacterial infections. Other causes include allergens, chemical substances, and trauma.	UMLS:C0031350|SNOMEDCT:405737000|DOID:2275|MESH:D010612|NCIT:C26851
HGNC:23228	CPAMD8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23228		
MONDO:0002251	hepatitis	biolink:Disease	mondo	ICD9:570|SCTID:197268000|DOID:2237|ICD9:571.41|ICD9:571.40|NCIT:C3095|ICD10:K73.9|EFO:0008496|MESH:D006505|ICD9:571.4		chronic hepatitis|acute/subac. necrosis of liver|acute hepatitis|inflammation of liver|Hepatitides|chronic persistent hepatitis|Hepatitis|hepatitis|liver inflammation|animal hepatitis|acute and subacute liver necrosis	http://purl.obolibrary.org/obo/MONDO_0002251	An active inflammatory process affecting the liver for more than six months. Causes include viral infections, autoimmune disorders, drugs, and metabolic disorders.	DOID:2237|MESH:D006505|NCIT:C3095|SNOMEDCT:197268000
MONDO:0002252	granulomatous hepatitis	biolink:Disease	mondo	NCIT:C27015|UMLS:C0235369|SCTID:86514004|DOID:2239			http://purl.obolibrary.org/obo/MONDO_0002252	Hepatitis that is characterized by the presence of granulomas.	UMLS:C0235369|NCIT:C27015|DOID:2239|SNOMEDCT:86514004
MONDO:0002253	spondylosis	biolink:Disease	mondo	ICD9:721.9|MESH:D055009|DOID:2247|ICD10:M47|ICD9:721.3|COHD:4227449|UMLS:C0038019|SCTID:48210000|ICD10:M47.9		spondylogenic compression of thoracic spinal cord|spondylogenic compression of lumbar spinal cord|lumbosacral spondylosis without myelopathy|spondylosis with myelopathy|thoracic or lumbar spondylosis with myelopathy|lumbar spondylosis with myelopathy	http://purl.obolibrary.org/obo/MONDO_0002253	A degenerative spinal disease that can involve any part of the vertebra, the intervertebral disk, and the surrounding soft tissue.	SNOMEDCT:48210000|MESH:D055009|UMLS:C0038019|DOID:2247
GO:0046005	positive regulation of circadian sleep/wake cycle, REM sleep	biolink:OntologyClass	mondo			up-regulation of circadian sleep/wake cycle, REM sleep|up regulation of circadian sleep/wake cycle, REM sleep|activation of circadian sleep/wake cycle, REM sleep|stimulation of circadian sleep/wake cycle, REM sleep|upregulation of circadian sleep/wake cycle, REM sleep|positive regulation of REM sleep	http://purl.obolibrary.org/obo/GO_0046005	Any process that activates or increases the duration or quality of rapid eye movement (REM) sleep.	
MONDO:0002254	syndromic disease	biolink:Disease	mondo	OGMS:0000086|UMLS:C0039082|DOID:225|NCIT:C28193|MESH:D013577		syndromic disease or disorder|clusters, symptom|cluster, symptom|syndrome associated with disease or disorder|symptom cluster|syndromes|symptom clusters|syndrome associated with disease or disorder|syndromic disease|syndrome	http://purl.obolibrary.org/obo/MONDO_0002254	A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition.	DOID:225|MESH:D013577|NCIT:C28193|UMLS:C0039082
GO:0048667	cell morphogenesis involved in neuron differentiation	biolink:OntologyClass	mondo			neuron morphogenesis involved in differentiation	http://purl.obolibrary.org/obo/GO_0048667	The process in which the structures of a neuron are generated and organized. This process occurs while the initially relatively unspecialized cell is acquiring the specialized features of a neuron.	
GO:0048666	neuron development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0048666	The process whose specific outcome is the progression of a neuron over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell.	
UBERON:0035005	preputial swelling of male	biolink:AnatomicalEntity	mondo			prepuce of male	http://purl.obolibrary.org/obo/UBERON_0035005		
UBERON:0035004	preputial swelling	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0035004		
MONDO:0002250	basilar artery insufficiency	biolink:Disease	mondo	UMLS:C0004812|COHD:374055|SCTID:64009001|DOID:223|NCIT:C34413|ICD9:435.0		basilar artery syndrome	http://purl.obolibrary.org/obo/MONDO_0002250	A syndrome which occurs as a result of the occlusion of the basilar artery. It may be caused by atherosclerosis, embolism or hemorrhage. Clinical signs include dizziness, headache, vomiting, hemiparesis or hemiplegia, dysarthria, dysphagia, blurred vision and loss of consciousness. The clinical course is variable and is dependent upon the extent of the occlusion and the location of the clot along the basilar artery which determines the resultant neurologic impairment. Prognosis is dismal in cases where a complete occlusion occurs with rapid deterioration of neurological function.	SNOMEDCT:64009001|DOID:223|NCIT:C34413|UMLS:C0004812
UBERON:0035006	preputial swelling of female	biolink:AnatomicalEntity	mondo			prepuce of female	http://purl.obolibrary.org/obo/UBERON_0035006		
MONDO:0014248	autism spectrum disorder - epilepsy - arthrogryposis syndrome	biolink:Disease	mondo	ICD10:Q87.8|OMIM:615553|Orphanet:370943|UMLS:C3809910	ordo_disease	arthrogryposis, mental retardation, and seizures|AMRS|arthrogryposis, intellectual disability, and seizures; AMRS|SLC35A3-CDG|arthrogryposis, mental retardation, and seizures; AMRS|arthrogryposis, intellectual disability, and seizures	http://purl.obolibrary.org/obo/MONDO_0014248	(1p21).	ORPHA:370943|UMLS:C3809910|http://identifiers.org/omim/615553
HGNC:11247	SPINT2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11247		
MONDO:0014247	familial episodic pain syndrome with predominantly lower limb involvement	biolink:Disease	mondo	OMIM:615552|Orphanet:391392|ICD10:M79.6|UMLS:C3809899|NCIT:C125390	ordo_clinical_subtype	episodic pain syndrome, familial, 3|FEPS3|episodic pain syndrome, familial, 3; FEPS3|episodic pain syndrome, familial, type 3	http://purl.obolibrary.org/obo/MONDO_0014247	A rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age.	ORPHA:391392|NCIT:C125390|UMLS:C3809899|http://identifiers.org/omim/615552
GO:0034097	response to cytokine	biolink:OntologyClass	mondo			response to cytokine stimulus	http://purl.obolibrary.org/obo/GO_0034097	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus.	
MONDO:0014246	episodic pain syndrome, familial, 2	biolink:Disease	mondo	UMLS:C3809893|DOID:0111730|OMIM:615551		FEPS2|SCN10A familial episodic pain syndrome|episodic pain syndrome, familial, 2; FEPS2|familial episodic pain syndrome caused by mutation in SCN10A|episodic pain syndrome, familial, 2|episodic pain syndrome, familial, type 2	http://purl.obolibrary.org/obo/MONDO_0014246	Any familial episodic pain syndrome in which the cause of the disease is a mutation in the SCN10A gene.	DOID:0111730|UMLS:C3809893|http://identifiers.org/omim/615551
MONDO:0014245	Diamond-Blackfan anemia 12	biolink:Disease	mondo	UMLS:C3809888|OMIM:615550		DBA12|Diamond-Blackfan Anemia type 12|Diamond-Blackfan anemia 12|RPL15 Diamond-Blackfan anemia|Diamond-Blackfan anemia 12; DBA12|Diamond-Blackfan anemia caused by mutation in RPL15	http://purl.obolibrary.org/obo/MONDO_0014245	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL15 gene.	UMLS:C3809888|http://identifiers.org/omim/615550
HGNC:11244	SPINK1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11244		
MONDO:0014249	multiple fibroadenoma of the breast	biolink:Disease	mondo	ICD10:D24|Orphanet:50920|OMIM:615554|UMLS:C3809918	ordo_disease	multiple fibroadenomas of the breast|MFAB|mammary polyadenomatosis|multiple fibroadenomas of the breast; MFAB	http://purl.obolibrary.org/obo/MONDO_0014249	Mammary polyadenomatosis is characterised by the presence in both breasts of multiple voluminous fibroadenomas with heterogeneous echo patterns.	ORPHA:50920|UMLS:C3809918|http://identifiers.org/omim/615554
MONDO:0014240	periventricular nodular heterotopia 6	biolink:Disease	mondo	UMLS:C3809872|OMIM:615544		periventricular nodular heterotopia type 6|ERMARD periventricular nodular heterotopia|periventricular nodular heterotopia 6|periventricular nodular heterotopia caused by mutation in ERMARD|PVNH6|periventricular nodular heterotopia 6; PVNH6	http://purl.obolibrary.org/obo/MONDO_0014240	Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the ERMARD gene.	UMLS:C3809872|http://identifiers.org/omim/615544
MONDO:0014244	hereditary sensory and autonomic neuropathy type 7	biolink:Disease	mondo	DOID:0070149|GARD:12723|NCIT:C125388|GARD:0012732|ICD10:G60.8|OMIM:615548|Orphanet:391397|UMLS:C3809882	ordo_disease|gard_rare	insensitivity to pain, congenital, with gastrointestinal dysfunction and hyperhidrosis|CIP with hyperhidrosis and gastrointestinal dysfunction|congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction|HSAN with hyperhidrosis and gastrointestinal dysfunction|SCN11A autosomal dominant hereditary sensory and autonomic neuropathy|neuropathy, hereditary sensory and autonomic, type VII|neuropathy, hereditary sensory and autonomic, type 7|hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction|neuropathy, hereditary sensory and autonomic, type VII; HSAN7|HSAN VII|hereditary sensory and autonomic neuropathy type VII|HSAN7|HSAN 7|autosomal dominant hereditary sensory and autonomic neuropathy caused by mutation in SCN11A	http://purl.obolibrary.org/obo/MONDO_0014244	Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues. Gastrointestinal issues can cause failure to thrive, painful constipation, and diarrhea. The constipation is due to intestinal dysmotility, where the the muscles and nerves of the digestive system do not move food through the digestive tract like it should. Signs and symptoms of HSAN7 usually appear at birth or during infancy. The inability to feel pain often leads to repeated, severe injuries, including bone fractures and joint dislocations. People with HSAN7 may also heal slowly putting them at risk for further complications, such as infection. Excessive sweating may cause itching. Other features may include partial insensitivity to cold and hot temperatures, mild muscle weakness, and motor skill delays. HSAN7 is not known to affect learning or intelligence. Treatment of HSAN7 aims to prevent injury and treat gastrointestinal and orthopedic problems. HSAN7 is caused by a mutation in the SCN11A gene. People with HSAN7 have a 1 in 2 or 50% chance of passing the condition on to each of their children. This pattern of inheritance is called ' autosomal dominant.'	ORPHA:391397|UMLS:C3809882|NCIT:C125388|DOID:0070149|http://identifiers.org/omim/615548
MONDO:0014243	Prader-Willi syndrome due to point mutation	biolink:Disease	mondo	UMLS:C3809877|GARD:0013316|Orphanet:398069|ICD10:Q87.1|OMIM:615547	ordo_etiological_subtype	Schaaf-YANG syndrome|Prader-Willi-like syndrome|Schaaf-Yang syndrome|Prader-Willi syndrome due to a point mutation|Schaaf-YANG syndrome; SHFYNG|PWS due to point mutation|PWS due to a point mutation|SHFYNG	http://purl.obolibrary.org/obo/MONDO_0014243		ORPHA:398069|UMLS:C3809877|http://identifiers.org/omim/615547
MONDO:0014242	van Maldergem syndrome 2	biolink:Disease	mondo	UMLS:C3809875|DOID:0080586|OMIM:615546		van Maldergem syndrome 2|van Maldergem syndrome caused by mutation in FAT4|FAT4 van Maldergem syndrome|VAN Maldergem syndrome 2; VMLDS2|VMLDS2|Van Maldergem syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0014242	Any van Maldergem syndrome in which the cause of the disease is a mutation in the FAT4 gene.	DOID:0080586|UMLS:C3809875|http://identifiers.org/omim/615546
MONDO:0014241	leukemia, acute lymphoblastic, susceptibility to, 3	biolink:Disease	mondo	UMLS:C3809874|OMIM:615545	predisposition	leukemia, acute lymphoblastic, susceptibility to, type 3|leukemia, acute lymphoblastic, susceptibility to, 3; ALL3|susceptibility to acute lymphoblastic leukemia 3|precursor B-cell acute lymphoblastic leukemia caused by mutation in PAX5|ALL3|leukemia, acute lymphoblastic, susceptibility to, 3|PAX5 precursor B-cell acute lymphoblastic leukemia	http://purl.obolibrary.org/obo/MONDO_0014241	Any precursor B-cell acute lymphoblastic leukemia in which the cause of the disease is a mutation in the PAX5 gene.	UMLS:C3809874|http://identifiers.org/omim/615545
HGNC:25897	MFSD2A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25897		
HGNC:25896	ORAI1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25896		
MONDO:0002266	malt worker's lung	biolink:Disease	mondo	DOID:2314|UMLS:C0155888|SCTID:25897000|ICD10:J67.4|ICD9:495.4		Aspergillus caused extrinsic allergic alveolitis|Aspergillus extrinsic allergic alveolitis|malt worker lung|Malt-workers' lung|Malt workers' lung|alveolitis due to aspergillus clavatus	http://purl.obolibrary.org/obo/MONDO_0002266	An extrinsic allergic alveolitis caused by infection with Aspergillus.	SNOMEDCT:25897000|DOID:2314|UMLS:C0155888
MONDO:0002267	obstructive lung disease	biolink:Disease	mondo	DOID:2320|UMLS:C0600260|MESH:D008173		respiratory airway obstruction	http://purl.obolibrary.org/obo/MONDO_0002267	Any disorder marked by obstruction of conducting airways of the lung. airway obstruction may be acute, chronic, intermittent, or persistent.	MESH:D008173|DOID:2320|UMLS:C0600260
MONDO:0002268	dyspepsia	biolink:Disease	mondo	ICD10:R10.13|DOID:2321|COHD:439418|EFO:0008533|MESH:D004415|NCIT:C26756|ICD10:K30		indigestion|dyspepsia, indigestion NOS|dyspepsia, indigestion	http://purl.obolibrary.org/obo/MONDO_0002268	An uncomfortable, often painful feeling in the stomach, resulting from impaired digestion. Symptoms include burning stomach pain, bloating, heartburn, nausea, and vomiting. Causes include gastritis, gastric ulcer, gastroesophageal reflux disease, pancreatic disease, and gallbladder disease.	DOID:2321|NCIT:C26756|MESH:D004415
MONDO:0002269	gastroenteritis	biolink:Disease	mondo	DOID:2326|ICD9:558.9|EFO:1001463|MESH:D005759|NCIT:C34632|ICD10:K52.9|UMLS:C0017160|COHD:198062|SCTID:25374005		intestine inflammation|inflammation of intestine|cholera morbus|infectious colitis, enteritis and gastroenteritis	http://purl.obolibrary.org/obo/MONDO_0002269	An inflammatory disorder that affects the upper and lower gastrointestinal tract. Most commonly, this is attributed to viruses; however bacteria, parasites or adverse reactions can also be the culprit. Symptoms include acute diarrhea and vomiting.	SNOMEDCT:25374005|NCIT:C34632|DOID:2326|UMLS:C0017160|MESH:D005759
MONDO:0002262	capillary lymphangioma	biolink:Disease	mondo	DOID:2286|SCTID:445492005		cutaneous lymphangioma|capillary lymphangioma	http://purl.obolibrary.org/obo/MONDO_0002262	A lymphangioma that involves the capillary.	DOID:2286|SNOMEDCT:445492005
MONDO:0002263	female reproductive system disease	biolink:Disease	mondo	SCTID:310789003|DOID:229|NCIT:C27020|ICD9:629.9|MESH:D005831		disease of female reproductive system|disease or disorder of female reproductive system|disorder of female reproductive system|gynecological disease|disorder of female genital tract|female reproductive disease|female reproductive system disease or disorder|disorder of female reproductive system|female reproductive system disease|disorder of female genital system|female reproductive system disorder|disease of female genital system	http://purl.obolibrary.org/obo/MONDO_0002263	A disease involving the female reproductive system.	DOID:229|NCIT:C27020|MESH:D005831|SNOMEDCT:310789003
MONDO:0002264	obsolete atrophy of prostate	biolink:Disease	mondo	DOID:2301|SCTID:29524003|COHD:200147|ICD9:602.2|ICD10:N42.2|UMLS:C0156296		prostate atrophy|atrophy of prostate|atrophic prostate	http://purl.obolibrary.org/obo/MONDO_0002264		UMLS:C0156296|SNOMEDCT:29524003|DOID:2301
UBERON:0035014	functional part of brain	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0035014	A brain region defined by functional criteria, e.g. auditory cortex, rather than by structural or histological criteria.	
MONDO:0002265	stereotypic movement disorder	biolink:Disease	mondo	COHD:4207660|ICD9:307.3|DOID:2303|SCTID:5507002|MESH:D019956|ICD10:F98.4		stereotypy habit disorder|stereotyped repetitive movements|stereotyped repetitive movements NOS (finding)	http://purl.obolibrary.org/obo/MONDO_0002265	Motor behavior that is repetitive, often seemingly driven, and nonfunctional. This behavior markedly interferes with normal activities or results in severe bodily self-injury. The behavior is not due to the direct physiological effects of a substance or a general medical condition. (dsm-iv, 1994)	DOID:2303|MESH:D019956|SNOMEDCT:5507002
MONDO:0002260	hidradenitis	biolink:Disease	mondo	COHD:434119|ICD9:705.83|UMLS:C0085160|MESH:D016575|DOID:2282|NCIT:C32132|SCTID:69741000		inflammation of apocrine sweat gland|apocrine sweat gland inflammation|Hydradenitis|apocrine sweat gland	http://purl.obolibrary.org/obo/MONDO_0002260	An inflammatory disease involving a pathogenic inflammatory response in the apocrine sweat gland.	SNOMEDCT:69741000|NCIT:C32132|DOID:2282|NCIT:C112190|MESH:D016575|UMLS:C0085160
HGNC:23230	UBA5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23230		
MONDO:0002261	keratopathy	biolink:Disease	mondo	UMLS:C0235270|NCIT:C27012|DOID:2283			http://purl.obolibrary.org/obo/MONDO_0002261	Any disorder of the cornea.	UMLS:C0235270|NCIT:C27012|DOID:2283
MONDO:0014237	autosomal recessive nonsyndromic deafness 76	biolink:Disease	mondo	ICD10:H90.3|DOID:0110524|OMIM:615540|UMLS:C3147083	clingen	autosomal recessive nonsyndromic deafness type 76|DFNB76|autosomal recessive deafness 76|SYNE4 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 76|autosomal recessive nonsyndromic deafness caused by mutation in SYNE4|deafness, autosomal recessive 76|deafness, autosomal recessive 76; DFNB76	http://purl.obolibrary.org/obo/MONDO_0014237	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SYNE4 gene.	http://identifiers.org/omim/615540|UMLS:C3147083|DOID:0110524
MONDO:0014236	Ehlers-Danlos syndrome, musculocontractural type 2	biolink:Disease	mondo	OMIM:615539|UMLS:C3809845		Ehlers-Danlos syndrome, musculocontractural type caused by mutation in DSE|EDSMC2|DSE Ehlers-Danlos syndrome, musculocontractural type|Ehlers-Danlos syndrome, musculocontractural type, 2|Ehlers-Danlos syndrome, musculocontractural type 2|Ehlers-Danlos syndrome, musculocontractural type, 2; EDSMC2|Ehlers-Danlos syndrome, musculocontractural type 2; EDSMC2	http://purl.obolibrary.org/obo/MONDO_0014236	Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene.	UMLS:C3809845|http://identifiers.org/omim/615539
HGNC:11257	SPR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11257		
MONDO:0014235	chromosome 22q13 duplication syndrome	biolink:Disease	mondo	DOID:0060437|UMLS:C3809844|OMIM:615538		chromosome 22q13 duplication syndrome	http://purl.obolibrary.org/obo/MONDO_0014235		DOID:0060437|UMLS:C3809844|http://identifiers.org/omim/615538
MONDO:0014234	reticulate acropigmentation of Kitamura	biolink:Disease	mondo	SCTID:239133004|DOID:0060258|Orphanet:178307|ICD9:709.09|ICD10:L81.8|OMIM:615537	ordo_disease	RAPK|RAK|Kitamura reticulate acropigmentation|reticulate acropigmentation of Kitamura; RAK|reticulate pigmentation of Kitamura|acropigmentatio reticularis|reticulate acropigmentation of Kitamura	http://purl.obolibrary.org/obo/MONDO_0014234	A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present.	ORPHA:178307|UMLS:C0406811|SNOMEDCT:239133004|DOID:0060258|http://identifiers.org/omim/615537
MONDO:0016896	partial deletion of the short arm of chromosome 18	biolink:Disease	mondo	ICD10:Q93.5|Orphanet:261974	ordo_group_of_disorders	partial deletion of chromosome 18p|partial deletion of the short arm of chromosome type 18|partial monosomy of chromosome 18p|partial monosomy of the short arm of chromosome 18	http://purl.obolibrary.org/obo/MONDO_0016896		ORPHA:261974
MONDO:0016897	partial deletion of the short arm of chromosome 19	biolink:Disease	mondo	Orphanet:261983|ICD10:Q93.5	ordo_group_of_disorders	partial deletion of chromosome 19p|partial deletion of the short arm of chromosome type 19|partial monosomy of chromosome 19p|partial monosomy of the short arm of chromosome 19	http://purl.obolibrary.org/obo/MONDO_0016897		ORPHA:261983
MONDO:0016898	partial monosomy of the short arm of chromosome 20	biolink:Disease	mondo	MESH:C535370|Orphanet:261992|ICD10:Q93.5|UMLS:CN036364|GARD:0003739	gard_rare|ordo_group_of_disorders	chromosome 20p deletion|monosomy 20p|partial deletion of the short arm of chromosome 20|partial monosomy 20p|20p deletion|Pure partial 20p deletion|20p monosomy|partial deletion of chromosome 20p|partial monosomy of the short arm of chromosome type 20|deletion 20p|partial monosomy of chromosome 20p	http://purl.obolibrary.org/obo/MONDO_0016898		ORPHA:261992|MESH:C535370|UMLS:CN036364
MONDO:0014239	testicular anomalies with or without congenital heart disease	biolink:Disease	mondo	OMIM:615542|UMLS:C3809858		testicular anomalies with or without congenital heart disease|TACHD|testicular anomalies with or without congenital heart disease; TACHD	http://purl.obolibrary.org/obo/MONDO_0014239		http://identifiers.org/omim/615542|UMLS:C3809858
MONDO:0014238	severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	biolink:Disease	mondo	UMLS:C3809853|OMIM:615541|ICD10:Q87.8|Orphanet:391307	ordo_malformation_syndrome	intellectual disability, autosomal recessive 39; MRT39|MRT39|mental retardation, autosomal recessive 39; MRT39|intellectual disability, autosomal recessive type 39|intellectual disability, autosomal recessive 39|mental retardation, autosomal recessive 39|mental retardation, autosomal recessive type 39	http://purl.obolibrary.org/obo/MONDO_0014238		http://identifiers.org/omim/615541|ORPHA:391307|UMLS:C3809853
MONDO:0016899	Duchenne and Becker muscular dystrophy	biolink:Disease	mondo	Orphanet:262|ICD10:G71.0|UMLS:CN227033	ordo_group_of_disorders	severe dystrophinopathy, Duchenne and Becker type	http://purl.obolibrary.org/obo/MONDO_0016899	Duchenne and Becker muscular dystrophies (DMD and BMD) are neuromuscular diseases characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.	UMLS:CN227033|ORPHA:262
MONDO:0016892	partial deletion of the short arm of chromosome 10	biolink:Disease	mondo	UMLS:C0795836|Orphanet:261938|ICD10:Q93.5	ordo_group_of_disorders	partial deletion of chromosome 10p|partial deletion of the short arm of chromosome type 10|partial monosomy of chromosome 10p|partial monosomy of the short arm of chromosome 10	http://purl.obolibrary.org/obo/MONDO_0016892		ORPHA:261938|UMLS:C0795836
MONDO:0016893	partial deletion of the short arm of chromosome 11	biolink:Disease	mondo	Orphanet:261947|ICD10:Q93.5	ordo_group_of_disorders	partial deletion of the short arm of chromosome type 11|partial deletion of chromosome 11p|partial monosomy of chromosome 11p|partial monosomy of the short arm of chromosome 11	http://purl.obolibrary.org/obo/MONDO_0016893		ORPHA:261947
MONDO:0016894	partial deletion of the short arm of chromosome 16	biolink:Disease	mondo	Orphanet:261956|ICD10:Q93.5	ordo_group_of_disorders	partial monosomy of the short arm of chromosome 16|partial deletion of chromosome 16p|partial monosomy of chromosome 16p|partial deletion of the short arm of chromosome type 16	http://purl.obolibrary.org/obo/MONDO_0016894		ORPHA:261956
MONDO:0016895	partial monosomy of the short arm of chromosome 17	biolink:Disease	mondo	ICD10:Q93.5|Orphanet:261965	ordo_group_of_disorders	partial deletion of chromosome 17p|partial monosomy of the short arm of chromosome type 17|partial monosomy of chromosome 17p|partial deletion of the short arm of chromosome 17	http://purl.obolibrary.org/obo/MONDO_0016895		ORPHA:261965
NCBITaxon:241806	Polypodiopsida	organism taxon	mondo	PMID:21652310|GC_ID:1		Filicopsida|ferns|Moniliformopses	http://purl.obolibrary.org/obo/NCBITaxon_241806		
MONDO:0014233	early-onset Parkinson disease 20	biolink:Disease	mondo	DOID:0060898|OMIM:615530|UMLS:C3809824		early-onset Parkinson disease type 20|Parkinson disease 20, early-onset; PARK20|early-onset Parkinson's disease 20|Parkinson disease 20, early-onset|SYNJ1 Parkinson disease|PARK20|Parkinson disease caused by mutation in SYNJ1	http://purl.obolibrary.org/obo/MONDO_0014233	Any Parkinson disease in which the cause of the disease is a mutation in the SYNJ1 gene.	UMLS:C3809824|DOID:0060898|http://identifiers.org/omim/615530
MONDO:0014232	craniosynostosis 5, susceptibility to	biolink:Disease	mondo	OMIM:615529	predisposition	craniosynostosis 5, susceptibility to|susceptibility to craniosynostosis 5|ALX4 craniosynostosis|CRS5|craniosynostosis 5, susceptibility to; CRS5|craniosynostosis caused by mutation in ALX4	http://purl.obolibrary.org/obo/MONDO_0014232	Any craniosynostosis in which the cause of the disease is a mutation in the ALX4 gene.	http://identifiers.org/omim/615529
MONDO:0014231	juvenile onset Parkinson disease 19A	biolink:Disease	mondo	ICD10:G20|UMLS:C3809811|DOID:0060891|OMIM:615528		Parkinson disease 19A, juvenile-onset|juvenile onset Parkinson disease type 19A|DNAJC6 Parkinson disease|juvenile onset Parkinson's disease 19A|Parkinson disease 19B, early-onset|Parkinson disease 19, juvenile-onset|Parkinson disease caused by mutation in DNAJC6|Parkinson disease 19A, juvenile-onset; PARK19A|PARK19A|PARK19|Parkinson disease 19, juvenile-onset; PARK19|Park19, formerly	http://purl.obolibrary.org/obo/MONDO_0014231	Any Parkinson disease in which the cause of the disease is a mutation in the DNAJC6 gene.	UMLS:C3809811|DOID:0060891|http://identifiers.org/omim/615528
MONDO:0016890	partial deletion of the short arm of chromosome 8	biolink:Disease	mondo	GARD:0003768|ICD10:Q93.5|Orphanet:261920|MESH:C537826	ordo_group_of_disorders|gard_rare	partial monosomy of chromosome 8p|monosomy 8p|deletion 8p|partial deletion of chromosome 8p|8p deletion|8p monosomy|partial deletion of the short arm of chromosome type 8|partial monosomy of the short arm of chromosome 8|partial monosomy 8p|chromosome 8p deletion	http://purl.obolibrary.org/obo/MONDO_0016890	Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.	MESH:C537826|UMLS:C2931635|ORPHA:261920
MONDO:0014230	candidiasis, familial, 8	biolink:Disease	mondo	OMIM:615527|UMLS:C3714992		TRAF3IP2 chronic mucocutaneous candidiasis (disease)|CANDF8|candidiasis, familial chronic mucocutaneous, autosomal recessive|candidiasis, familial, 8|chronic mucocutaneous candidiasis (disease) caused by mutation in TRAF3IP2|candidiasis, familial, type 8|candidiasis, familial, 8; CANDF8	http://purl.obolibrary.org/obo/MONDO_0014230	Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the TRAF3IP2 gene.	UMLS:C3714992|http://identifiers.org/omim/615527
MONDO:0016891	partial deletion of the short arm of chromosome 9	biolink:Disease	mondo	Orphanet:261929|ICD10:Q93.5	ordo_group_of_disorders	partial deletion of the short arm of chromosome type 9|partial monosomy of the short arm of chromosome 9|partial monosomy of chromosome 9p|partial deletion of chromosome 9p	http://purl.obolibrary.org/obo/MONDO_0016891		ORPHA:261929|UMLS:C2931695
MONDO:0002237	carbuncle	biolink:Disease	mondo	ICD9:680.8|EFO:1000674|ICD9:680.9|SCTID:416893007|UMLS:C0007078|DOID:2176|MESH:D002270		carbuncle and furuncle of upper arm and forearm|carbuncle and furuncle of face|carbuncle and furuncle of trunk|carbuncle and furuncle of leg except foot|carbuncle and furuncle of gluteal region|carbuncle and furuncle of any part of face except eye|carbuncle and furuncle of buttock|carbuncle and furuncle of hand|carbuncle and furuncle of neck|carbuncle and furuncle of foot	http://purl.obolibrary.org/obo/MONDO_0002237	An infection of cutaneous and subcutaneous tissue that consists of a cluster of boils. Commonly, the causative agent is staphylococcus aureus. Carbuncles produce fever, leukocytosis, extreme pain, and prostration.	MESH:D002270|UMLS:C0007078|SNOMEDCT:416893007|DOID:2176
UBERON:0011092	right pelvic girdle region	biolink:AnatomicalEntity	mondo			right pelvic girdle	http://purl.obolibrary.org/obo/UBERON_0011092	A pelvic girdle region that is in the right side of a multicellular organism.	
MONDO:0002238	ascending colon cancer	biolink:Disease	mondo	ICD10:C18.2|UMLS:C0153439|DOID:218|SCTID:363412000|ICD9:153.6		malignant neoplasm of right colon|malignant ascending colon neoplasm|cancer of ascending colon|Ca ascending colon|malignant neoplasm of ascending colon|ascending colon cancer|malignant tumor of ascending colon	http://purl.obolibrary.org/obo/MONDO_0002238	A malignant neoplasm involving the ascending colon.	UMLS:C0153439|SNOMEDCT:363412000|DOID:218
MONDO:0004899	monofixation syndrome	biolink:Disease	mondo	ICD10:H50.42|UMLS:C0339611|DOID:9843|ICD9:378.34|SCTID:14785004		microtropia|microstrabismus	http://purl.obolibrary.org/obo/MONDO_0004899		DOID:9843|UMLS:C0339611|SNOMEDCT:14785004
UBERON:0011091	skeleton of left pelvic girdle	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011091	A skeleton of pelvic girdle that is part of a left pelvic girdle region.	
HGNC:23204	KIRREL3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23204		
MONDO:0002239	post-surgical hypoinsulinemia	biolink:Disease	mondo	UMLS:C0154190|DOID:2181|ICD9:251.3|COHD:192591|ICD10:E89.1|SCTID:190437000		postsurgical hypoinsulinemia	http://purl.obolibrary.org/obo/MONDO_0002239		DOID:2181|SNOMEDCT:190437000|UMLS:C0154190
UBERON:0011090	skeleton of right pelvic girdle	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011090	A skeleton of pelvic girdle that is part of a right pelvic girdle region.	
MONDO:0002233	enamel caries	biolink:Disease	mondo	SCTID:80353004|COHD:441049|DOID:217|UMLS:C0266853|ICD9:521.01		dental caries of enamel|simple dental cavity|primary dental caries|dental caries limited to enamel|enamel dental caries	http://purl.obolibrary.org/obo/MONDO_0002233	A dental caries that involves the enamel.	SNOMEDCT:80353004|DOID:217|UMLS:C0266853
MONDO:0004896	esotropia	biolink:Disease	mondo	ICD10:H50.0|UMLS:C0014877|COHD:377877|NCIT:C34596|ICD10:H50.00|SCTID:16596007|ICD9:378.0|ICD9:378.00|MESH:D004948|DOID:9840|GARD:0008235	gard_rare	internal strabismus|crossed eyes|convergence in manifest squint	http://purl.obolibrary.org/obo/MONDO_0004896	A form of strabismus in which one or both eyes are deviated medially.	DOID:9840|SNOMEDCT:16596007|MESH:D004948|UMLS:C0014877|NCIT:C34596
UBERON:0011096	lacrimal nerve	biolink:AnatomicalEntity	mondo			nervus lacrimalis	http://purl.obolibrary.org/obo/UBERON_0011096	The lacrimal nerve is the smallest of the three branches of the ophthalmic division of the trigeminal nerve.	
MONDO:0004895	accommodative esotropia	biolink:Disease	mondo	COHD:381027|ICD10:H50.43|DOID:9839|ICD9:378.35|UMLS:C0155336|SCTID:419494007			http://purl.obolibrary.org/obo/MONDO_0004895		SNOMEDCT:419494007|UMLS:C0155336|DOID:9839
MONDO:0002234	vaginitis (disease)	biolink:Disease	mondo	SCTID:30800001|DOID:2170|MESH:D014627|UMLS:C0042267|ICD9:616.10|EFO:0005757|NCIT:C26911|HP:0030683|ICD9:616.1		inflammation of vagina|vaginitis|vagina inflammation|vaginal inflammation|vaginal Inflammation	http://purl.obolibrary.org/obo/MONDO_0002234	A non-infectious or infectious inflammatory process affecting the vagina.	NCIT:C26911|MESH:D014627|UMLS:C0042267|SNOMEDCT:30800001|DOID:2170
UBERON:0011095	vertebra pre-cartilage condensation	biolink:AnatomicalEntity	mondo			vertebral pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0011095	The pre-cartilaginous form of a vertebral element, a skeletal element that forms around the notochord and is part of the vertebral column.	
MONDO:0004898	total circumpapillary dystrophy of choroid	biolink:Disease	mondo	UMLS:C0154896|SCTID:59753003|ICD9:363.52|DOID:9842		circumpapillary dystrophy of choroid, total	http://purl.obolibrary.org/obo/MONDO_0004898		UMLS:C0154896|DOID:9842|SNOMEDCT:59753003
MONDO:0002235	eyelid neoplasm	biolink:Disease	mondo	NCIT:C3031|Orphanet:98580|UMLS:C0015424|SCTID:278697001|EFO:1000934|MESH:D005142|DOID:2173	ordo_group_of_disorders	tumor of eyelid|neoplasm of the eyelid|tumor of the eyelid|palpebral tumor|eyelid neoplasm|neoplasm of eyelid|eyelid tumor|eyelid neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0002235	A benign or malignant neoplasm that affects the eyelid. Representative examples include hemangioma, nevus, and carcinoma.	SNOMEDCT:278697001|NCIT:C3031|UMLS:C0015424|ORPHA:98580|DOID:2173|MESH:D005142
UBERON:0011094	vertebra cartilage element	biolink:AnatomicalEntity	mondo			vertebral cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0011094	The cartilaginous form of a vertebral element, a skeletal element that forms around the notochord and is part of the vertebral column.	
MONDO:0002236	ocular cancer	biolink:Disease	mondo	ICD9:190.8|NCIT:C4767|MESH:D005134|ICD9:239.89|SCTID:371486001|DOID:2174		ocular tumor|neoplasm of eye|malignant neoplasm of eye|eyeball of camera-type eye cancer|malignant neoplasm of the eye|malignant eyeball of camera-type eye neoplasm|malignant eye cancer, NOS|malignant eye tumor|malignant neoplasm of eyeball of camera-type eye|eye neoplasm|malignant ocular tumor|malignant tumor of the eye|cancer of eye|malignant tumor of eye|malignant ocular neoplasm|cancer of the eye|cancer of eyeball of camera-type eye|malignant eye neoplasm|neoplasm of eye proper|eye cancer|eye neoplasm, malignant	http://purl.obolibrary.org/obo/MONDO_0002236	A benign or malignant neoplasm affecting the structures of the eye.	SNOMEDCT:371486001|NCIT:C4767|DOID:2174|MESH:D005134
MONDO:0004897	hypotropia	biolink:Disease	mondo	SCTID:29491004|NCIT:C42086|COHD:379029|UMLS:C0152208|DOID:9841|ICD9:378.32		hypotropia|sunset sign|downward ocular deviation	http://purl.obolibrary.org/obo/MONDO_0004897	Vertical strabismus in which there is permanent downward deviation of the visual axis of one eye.	DOID:9841|UMLS:C0152208|SNOMEDCT:29491004|NCIT:C42086
UBERON:0011093	left pelvic girdle region	biolink:AnatomicalEntity	mondo			left pelvic girdle	http://purl.obolibrary.org/obo/UBERON_0011093	A pelvic girdle region that is in the left side of a multicellular organism.	
MONDO:0004892	refractive error	biolink:Disease	mondo	MESH:D012030|DOID:9835|SCTID:39021009|ICD10:H52.7			http://purl.obolibrary.org/obo/MONDO_0004892	A defect in the focusing of light on the retina as in astigmatism, myopia, or hyperopia.	SNOMEDCT:39021009|MESH:D012030|NCIT:C87145|DOID:9835
MONDO:0002230	ovarian Wilms tumor	biolink:Disease	mondo	DOID:2153|NCIT:C40443|UMLS:C1518746		ovarian Wilms' tumor|ovary Wilms tumor|ovarian Wilms' cancer|ovarian Wilms tumor	http://purl.obolibrary.org/obo/MONDO_0002230	An embryonal neoplasm arising from the ovary with morphologic features resembling Wilms tumor of the kidney. It occurs during the reproductive age and may present as a rapidly growing adnexal mass.	NCIT:C40443|DOID:2153|UMLS:C1518746
MONDO:0004891	hyperopia	biolink:Disease	mondo	ICD10:H52.0|UMLS:C0020490|COHD:376415|SCTID:38101003|DOID:9834|ICD9:367.0|MESH:D006956		hypermetropia|Far-sightedness	http://purl.obolibrary.org/obo/MONDO_0004891	A refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. It is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation. (Dorland, 27th ed)	MESH:D006956|DOID:9834|UMLS:C0020490|SNOMEDCT:38101003
MONDO:0002231	obsolete malignant ovarian germ cell neoplasm	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002231		
MONDO:0004894	cyclotropia	biolink:Disease	mondo	ICD10:H50.41|ICD9:378.33|DOID:9838|SCTID:70486007|COHD:372647|UMLS:C0152209			http://purl.obolibrary.org/obo/MONDO_0004894		SNOMEDCT:70486007|UMLS:C0152209|DOID:9838
MONDO:0002232	nasal cavity disease	biolink:Disease	mondo	SCTID:232340005|UMLS:C0339820|NCIT:C27102|COHD:439407|DOID:2163		nasal cavity disease or disorder|nasal cavity disorder|disorder of nasal cavity|disease of nasal cavity|disorder of nasal cavity|disease or disorder of nasal cavity|nasal cavity disease	http://purl.obolibrary.org/obo/MONDO_0002232	A disease involving the nasal cavity.	SNOMEDCT:232340005|UMLS:C0339820|NCIT:C27102|DOID:2163
MONDO:0004893	hypertropia	biolink:Disease	mondo	UMLS:C0020575|SCTID:40608009|ICD9:378.31|NCIT:C34716|ICD10:H50.2|DOID:9837|COHD:375275			http://purl.obolibrary.org/obo/MONDO_0004893	Vertical strabismus in which there is permanent upward deviation of the visual axis of one eye.	NCIT:C34716|SNOMEDCT:40608009|DOID:9837|UMLS:C0020575
HGNC:11219	SPARC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11219		
MONDO:0004890	partial central choroid dystrophy	biolink:Disease	mondo	ICD9:363.53|DOID:9822|SCTID:193468002|UMLS:C0339427		partial central dystrophy of choroid|circinate choroidal dystrophy|choroidal dystrophy, central areolar|partial central choroid dystrophy	http://purl.obolibrary.org/obo/MONDO_0004890		UMLS:C0339427|SNOMEDCT:193468002|DOID:9822
MONDO:0014226	idiopathic CD4 lymphocytopenia	biolink:Disease	mondo	GARD:0012375|ICD10:D72.8|UMLS:C3809768|Orphanet:228000|SCTID:763713000|OMIM:615518	ordo_disease	ICL|immunodeficiency 13; IMD13|idiopathic CD4 positive T-lymphocytopenia|idiopathic Cd4 lymphopenia|IMD13|immunodeficiency type 13|immunodeficiency 13	http://purl.obolibrary.org/obo/MONDO_0014226	Idiopathic CD4 lymphocytopenia (ICL) is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/B5L on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.	ORPHA:228000|http://identifiers.org/omim/615518|SNOMEDCT:763713000|UMLS:C3809768
MONDO:0016889	partial deletion of the short arm of chromosome 7	biolink:Disease	mondo	GARD:0001346|ICD10:Q93.5|Orphanet:261911	ordo_group_of_disorders|gard_rare	partial monosomy 7p|monosomy 7p|chromosome 7p deletion|partial deletion of the short arm of chromosome type 7|deletion 7p|partial monosomy of the short arm of chromosome 7|partial monosomy of chromosome 7p|partial deletion of chromosome 7p|7p deletion|7p monosomy	http://purl.obolibrary.org/obo/MONDO_0016889	Chromosome 7p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.	ORPHA:261911
MONDO:0014225	hemochromatosis type 5	biolink:Disease	mondo	ICD10:E83.1|Orphanet:447792|DOID:0111031|UMLS:C1851316|OMIM:615517|MESH:C565020|Orphanet:247790|UMLS:CN237708|UMLS:CN181217	merged_class|ordo_disease	hemochromatosis, type 5; HFE5|FTH1-associated iron overload|FTH1-related iron overload|hemochromatosis, type 5|HFE5|iron overload, autosomal dominant|FTH1 hereditary hemochromatosis|hereditary hemochromatosis caused by mutation in FTH1	http://purl.obolibrary.org/obo/MONDO_0014225	Any hereditary hemochromatosis in which the cause of the disease is a mutation in the FTH1 gene.	http://identifiers.org/omim/615517|UMLS:C1851316|UMLS:CN181217|MESH:C565020|DOID:0111031|UMLS:CN237708|ORPHA:447792|ORPHA:247790
MONDO:0014224	developmental delay with autism spectrum disorder and gait instability	biolink:Disease	mondo	OMIM:615516|Orphanet:329195|UMLS:C3809753	ordo_disease	intellectual disability, autosomal recessive 38|mental retardation, autosomal recessive 38|mental retardation, autosomal recessive type 38|intellectual disability, autosomal recessive 38; MRT38|developmental delay with ASD and gait instability|MRT38|mental retardation, autosomal recessive 38; MRT38|intellectual disability, autosomal recessive type 38	http://purl.obolibrary.org/obo/MONDO_0014224	Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior.	http://identifiers.org/omim/615516|ORPHA:329195|UMLS:C3809753
MONDO:0014223	amyotrophic lateral sclerosis type 19	biolink:Disease	mondo	OMIM:615515|UMLS:C3715155|DOID:0060210		ALS19|ERBB4 amyotrophic lateral sclerosis|amyotrophic lateral sclerosis caused by mutation in ERBB4|amyotrophic lateral sclerosis type 19|amyotrophic lateral sclerosis 19|amyotrophic lateral sclerosis 19; ALS19	http://purl.obolibrary.org/obo/MONDO_0014223	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ERBB4 gene.	UMLS:C3715155|http://identifiers.org/omim/615515|DOID:0060210
MONDO:0016885	partial deletion of the short arm of chromosome 3	biolink:Disease	mondo	Orphanet:261875|ICD10:Q93.5	ordo_group_of_disorders	partial deletion of chromosome 3p|partial deletion of the short arm of chromosome type 3|partial monosomy of the short arm of chromosome 3|partial monosomy of chromosome 3p	http://purl.obolibrary.org/obo/MONDO_0016885		ORPHA:261875
MONDO:0014229	microphthalmia, syndromic 12	biolink:Disease	mondo	UMLS:C3809803|OMIM:615524|GARD:0013235	gard_rare	RARB syndromic microphthalmia|microphthalmia, syndromic type 12|microphthalmia, syndromic 12|microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or Cardiac defects|MCOPS12|microphthalmia, syndromic 12; MCOPS12|syndromic microphthalmia-12|syndromic microphthalmia caused by mutation in RARB	http://purl.obolibrary.org/obo/MONDO_0014229	Syndromic microphthalmia-12 is a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). Other symptoms may include: Severe global developmental delay with progressive motor impairment due to spasticity and/or uncontrolled repetitive muscular contractions (dystonia), with or without abnormal quick movements that resemble dancing (chorea), Defects of the cerebellum (Chiari type I malformation) Accumulation of cerebrospinal fluid inside the brain (hydrocephaly), Severe feeding difficulties, Mild facial dysmorphism with broad nasal root and tip, and a very small chin (micrognathia), Severe language delay, Wheelchair-bound. Syndromic microphthalmia-12 is caused by mutations in the RARB gene. There is no specific treatment for this syndrome.	http://identifiers.org/omim/615524|UMLS:C3809803
MONDO:0016886	partial deletion of the short arm of chromosome 4	biolink:Disease	mondo	Orphanet:261884|ICD10:Q93.3	ordo_group_of_disorders	partial deletion of chromosome 4p|partial deletion of the short arm of chromosome type 4|partial monosomy of the short arm of chromosome 4|partial monosomy of chromosome 4p	http://purl.obolibrary.org/obo/MONDO_0016886		ORPHA:261884
MONDO:0016887	partial deletion of the short arm of chromosome 5	biolink:Disease	mondo	Orphanet:261893|ICD10:Q93.4	ordo_group_of_disorders	partial deletion of chromosome 5p|partial monosomy of the short arm of chromosome 5|partial monosomy of chromosome 5p|partial deletion of the short arm of chromosome type 5	http://purl.obolibrary.org/obo/MONDO_0016887		ORPHA:261893
MONDO:0014228	corneal dystrophy, Fuchs endothelial, 8	biolink:Disease	mondo	UMLS:C3809798|OMIM:615523		AGBL1 Fuchs' endothelial dystrophy|Fuchs' endothelial dystrophy caused by mutation in AGBL1|corneal dystrophy, Fuchs endothelial, 8|corneal dystrophy, Fuchs endothelial, 8; FECD8|corneal dystrophy, Fuchs endothelial, type 8|FECD8	http://purl.obolibrary.org/obo/MONDO_0014228	Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the AGBL1 gene.	http://identifiers.org/omim/615523|UMLS:C3809798
HGNC:13886	ABCG5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13886		
MONDO:0014227	hypopigmentation-punctate palmoplantar keratoderma syndrome	biolink:Disease	mondo	Orphanet:324561|OMIM:615522|ICD9:757.39|ICD10:Q82.8|SCTID:711154007|UMLS:C3809781|GARD:0012384	ordo_disease	guttate hypopigmentation and punctate palmoplantar keratoderma|Cole disease|COLE disease|COLED|punctate palmoplantar keratoderma with or without ectopic calcification|COLE disease; COLED|guttate hypopigmentation|hypopigmentation and punctate keratosis of the palms and soles|guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification	http://purl.obolibrary.org/obo/MONDO_0014227		SNOMEDCT:711154007|http://identifiers.org/omim/615522|ORPHA:324561|UMLS:C3809781
MONDO:0016888	partial deletion of the short arm of chromosome 6	biolink:Disease	mondo	Orphanet:261902|ICD10:Q93.5	ordo_group_of_disorders	partial deletion of the short arm of chromosome type 6|partial monosomy of chromosome 6p|partial monosomy of the short arm of chromosome 6|partial deletion of chromosome 6p	http://purl.obolibrary.org/obo/MONDO_0016888		ORPHA:261902
HGNC:13887	ABCG8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13887		
HGNC:11226	SPG11	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11226		
MONDO:0016881	partial deletion of chromosome 19	biolink:Disease	mondo	ICD10:Q93.5|Orphanet:261841	ordo_group_of_disorders	partial monosomy of chromosome 19|partial deletion of chromosome type 19	http://purl.obolibrary.org/obo/MONDO_0016881		ORPHA:261841
MONDO:0016882	partial deletion of chromosome 20	biolink:Disease	mondo	Orphanet:261846|ICD10:Q93.5	ordo_group_of_disorders	partial monosomy of chromosome 20|partial deletion of chromosome type 20	http://purl.obolibrary.org/obo/MONDO_0016882		ORPHA:261846
MONDO:0016883	partial deletion of the short arm of chromosome 1	biolink:Disease	mondo	NCIT:C36501|GARD:0003730|Orphanet:261857|ICD10:Q93.5|UMLS:C0795796|MESH:C535591	gard_rare|ordo_group_of_disorders	del(1p)|partial deletion of chromosome 1p|loss of chromosome 1p|chromosome 1p deletion|partial monosomy 1p|monosomy 1p|partial deletion of the short arm of chromosome type 1|deletion 1p|partial monosomy of the short arm of chromosome 1|1p deletion|partial monosomy of chromosome 1p|1p monosomy	http://purl.obolibrary.org/obo/MONDO_0016883	Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.	NCIT:C36501|ORPHA:261857|UMLS:C0795796|MESH:C535591
MONDO:0016884	partial deletion of the short arm of chromosome 2	biolink:Disease	mondo	ICD10:Q93.5|Orphanet:261866	ordo_group_of_disorders	partial deletion of chromosome 2p|partial deletion of the short arm of chromosome type 2|partial monosomy of the short arm of chromosome 2|partial monosomy of chromosome 2p	http://purl.obolibrary.org/obo/MONDO_0016884		ORPHA:261866
MONDO:0014222	immunodeficiency 14	biolink:Disease	mondo	OMIM:615513		immunodeficiency 14|immunodeficiency type 14|Activated PI3K-Delta syndrome|p110-Delta-Activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency|immunodeficiency 14; IMD14|IMD14	http://purl.obolibrary.org/obo/MONDO_0014222		http://identifiers.org/omim/615513
MONDO:0014221	triosephosphate isomerase deficiency	biolink:Disease	mondo	OMIM:615512|SCTID:234405009|MESH:C566029|ICD9:282.3|DOID:0050884|UMLS:C1860808|Orphanet:868|ICD10:D55.2|GARD:0005287|NCIT:C131652	ordo_disease|gard_rare	triose phosphate-isomerase deficiency|TPID|triosephosphate isomerase deficiency|TPI deficiency|triosephosphate isomerase deficiency; TPID	http://purl.obolibrary.org/obo/MONDO_0014221	Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.	SNOMEDCT:234405009|MESH:C566029|UMLS:C0398562|DOID:0050884|ORPHA:868|UMLS:C1860808|NCIT:C131652|http://identifiers.org/omim/615512
MONDO:0014220	myopathy due to myoadenylate deaminase deficiency	biolink:Disease	mondo	GARD:0000547|OMIM:615511	gard_rare|prototype_pattern	AMP deaminase 1 deficiency|AMPD1 deficiency|MMDD|myoadenylate deaminase deficiency, myopathy due to|adenosine monophosphate deaminase-1 deficiency, myopathy due to|adenosine monophosphate deaminase deficiency|adenosine monophosphate deaminase 1 deficiency|myopathy due to myoadenylate deaminase deficiency; MMDD|myopathy due to myoadenylate deaminase deficiency|myoadenylate deaminase deficiency|AMP deaminase deficiency	http://purl.obolibrary.org/obo/MONDO_0014220		http://identifiers.org/omim/615511
MONDO:0016880	partial deletion of chromosome 18	biolink:Disease	mondo	Orphanet:261836|ICD10:Q93.5	ordo_group_of_disorders	partial deletion of chromosome type 18|partial monosomy of chromosome 18	http://purl.obolibrary.org/obo/MONDO_0016880		ORPHA:261836
MONDO:0002248	obsolete myeloproliferative neoplasm	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002248		
MONDO:0002249	thrombocytosis disease	biolink:Disease	mondo	NCIT:C35530|DOID:2228|SCTID:6631009|MESH:D013922|ICD9:289.9|UMLS:C0836924		thrombocytosis|elevated Platelet count|Platelet count increased|Thrombocythaemia	http://purl.obolibrary.org/obo/MONDO_0002249	A disease characterized by higher than normal platelet counts in the peripheral blood.	SNOMEDCT:6631009|NCIT:C35530|MESH:D013922|DOID:2228|UMLS:C0836924
HGNC:23215	PIGO	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23215		
HGNC:23212	MYH14	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23212		
GO:0046031	ADP metabolic process	biolink:OntologyClass	mondo			ADP metabolism	http://purl.obolibrary.org/obo/GO_0046031	The chemical reactions and pathways involving ADP, adenosine 5'-diphosphate.	
HGNC:23213	PIGW	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23213		
MONDO:0002244	factor VII deficiency	biolink:Disease	mondo	UMLS:C0015503|ICD9:286.3|SCTID:37193007|MESH:D005168		F7 deficiency|factor 7 deficiency|factor VII deficiency|deficiency, stable	http://purl.obolibrary.org/obo/MONDO_0002244	A coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood.	UMLS:C0015503|SNOMEDCT:37193007|MESH:D005168
MONDO:0002245	blood platelet disease	biolink:Disease	mondo	MESH:D001791|SCTID:22716005|NCIT:C131634		thrombocytopathy|platelet abnormality|platelet disorder	http://purl.obolibrary.org/obo/MONDO_0002245	Disorders caused by abnormalities in platelet count or function.	SNOMEDCT:22716005|MESH:D001791|NCIT:C131634
MONDO:0002246	perichondritis of auricle	biolink:Disease	mondo	ICD9:380.0|ICD9:380.00|UMLS:C0155389|ICD10:H61.009|SCTID:34129005|ICD10:H61.00|COHD:136710|DOID:222|ICD10:H61.0		perichondritis of pinna|perichondritis and chondritis of pinna|perichondritis of pinna, unspecified	http://purl.obolibrary.org/obo/MONDO_0002246	An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it.	DOID:222|SNOMEDCT:34129005|UMLS:C0155389
HGNC:23216	ZNF469	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23216		
MONDO:0002247	factor X deficiency	biolink:Disease	mondo	MESH:D005171|NCIT:C131632			http://purl.obolibrary.org/obo/MONDO_0002247	A coagulation disorder characterized by the partial or complete absence of factor X activity in the blood.	NCIT:C131632|MESH:D005171
MONDO:0002240	acute perichondritis of pinna	biolink:Disease	mondo	COHD:132333|SCTID:45855004|UMLS:C0155390|ICD9:380.01|DOID:221		perichondritis of auricle, acute|acute perichondritis of auricle	http://purl.obolibrary.org/obo/MONDO_0002240	Acute form of perichondritis of auricle.	DOID:221|UMLS:C0155390|SNOMEDCT:45855004
NCBITaxon:481310	Demodex folliculorum	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_481310		
UBERON:0035034	eyelid epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0035034	An epithelium that is part of an eyelid [Automatically generated definition].	
UBERON:0011088	ligament of knee joint	biolink:AnatomicalEntity	mondo			knee joint ligament	http://purl.obolibrary.org/obo/UBERON_0011088	A ligament that is part of a knee joint.	
MONDO:0002241	factor XIII deficiency	biolink:Disease	mondo			FXIIID	http://purl.obolibrary.org/obo/MONDO_0002241	An acquired or inherited coagulation disorder due to reduced levels and activity of factor XIII.	
MONDO:0002242	coagulation protein disease	biolink:Disease	mondo	NCIT:C27215|DOID:2212|MESH:D020147|UMLS:C0600503|SCTID:86075001		coagulation factor deficiency syndrome|coagulation factor deficiency	http://purl.obolibrary.org/obo/MONDO_0002242	Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding.	SNOMEDCT:86075001|DOID:2212|NCIT:C27215|UMLS:C0600503|MESH:D020147
UBERON:0035036	naris epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0035036	An epithelium that is part of a naris [Automatically generated definition].	
MONDO:0014209	early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome	biolink:Disease	mondo	UMLS:C3809665|OMIM:615491|Orphanet:352654|ICD10:G31.8	ordo_disease	SPG79|spastic paraplegia 79, autosomal recessive; SPG79|neurodegeneration with optic atrophy, childhood-onset; NDGOA|neurodegeneration with optic atrophy, childhood-onset|spastic paraplegia 79, autosomal recessive|NDGOA	http://purl.obolibrary.org/obo/MONDO_0014209	Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis.	UMLS:C3809665|http://identifiers.org/omim/615491|ORPHA:352654
MONDO:0002243	hemorrhagic disease	biolink:Disease	mondo	MESH:D006474|DOID:2213|NCIT:C115221|ICD9:287.9|ICD10:D69.9		hemorrhagic disease|hemorrhagic diathesis|bleeding diathesis|bleeding tendency|bleeding predisposition|bleeding disorder	http://purl.obolibrary.org/obo/MONDO_0002243	Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (hemostatic disorders).	NCIT:C115221|DOID:2213|MESH:D006474
GO:0048699	generation of neurons	biolink:OntologyClass	mondo			neuron generation	http://purl.obolibrary.org/obo/GO_0048699	The process in which nerve cells are generated. This includes the production of neuroblasts and their differentiation into neurons.	
UBERON:0035038	carpal tunnel	biolink:AnatomicalEntity	mondo			carpal canal|carpel tunnel	http://purl.obolibrary.org/obo/UBERON_0035038	The fibro-osseous passageway on the palmar side of the wrist that connects the distal forearm to the middle compartment of the deep plane of the palm.	
UBERON:0035037	jaw epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0035037		
GO:0046034	ATP metabolic process	biolink:OntologyClass	mondo			ATP metabolism	http://purl.obolibrary.org/obo/GO_0046034	The chemical reactions and pathways involving ATP, adenosine triphosphate, a universally important coenzyme and enzyme regulator.	
UBERON:0035039	rectal artery	biolink:AnatomicalEntity	mondo			hemorrhoidal artery	http://purl.obolibrary.org/obo/UBERON_0035039		
MONDO:0014215	primary ciliary dyskinesia 27	biolink:Disease	mondo	OMIM:615504|UMLS:C3809701|DOID:0110611|ICD10:Q34.8		CILD27|primary ciliary dyskinesia caused by mutation in CCDC65|ciliary dyskinesia, primary, 27|ciliary dyskinesia, primary, 27; CILD27|CCDC65 primary ciliary dyskinesia|primary ciliary dyskinesia type 27|ciliary dyskinesia, primary, 27, without situs inversus|primary ciliary dyskinesia 27 without situs inversus|ciliary dyskinesia, primary, type 27	http://purl.obolibrary.org/obo/MONDO_0014215	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC65 gene.	http://identifiers.org/omim/615504|DOID:0110611|UMLS:C3809701
MONDO:0016878	partial deletion of chromosome 16	biolink:Disease	mondo	ICD10:Q93.5|Orphanet:261826	ordo_group_of_disorders	partial deletion of chromosome type 16|partial monosomy of chromosome 16	http://purl.obolibrary.org/obo/MONDO_0016878		ORPHA:261826
MONDO:0014214	short-rib thoracic dysplasia 8 with or without polydactyly	biolink:Disease	mondo	UMLS:C3809691|OMIM:615503|DOID:0110094|ICD10:Q77.2		short rib-polydactyly syndrome, type 6|short-rib thoracic dysplasia 8 with or without polydactyly; SRTD8|SRPS6|SRTD8|short rib-polydactyly syndrome type VI|short-rib thoracic dysplasia 8 with or without polydactyly	http://purl.obolibrary.org/obo/MONDO_0014214	An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36.	http://identifiers.org/omim/615503|DOID:0110094|UMLS:C3809691
MONDO:0016879	partial deletion of chromosome 17	biolink:Disease	mondo	Orphanet:261831|ICD10:Q93.5	ordo_group_of_disorders	partial deletion of chromosome type 17|partial monosomy of chromosome 17	http://purl.obolibrary.org/obo/MONDO_0016879		ORPHA:261831
MONDO:0014213	intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	biolink:Disease	mondo	DOID:0070051|ICD10:Q87.8|OMIM:615502|Orphanet:363611|UMLS:C3809686	ordo_disease	intellectual disability, autosomal dominant type 21|mental retardation, autosomal dominant 21|intellectual disability, autosomal dominant 21; MRD21|autosomal dominant intellectual disability 21|autosomal dominant mental retardation 21|autosomal dominant non-syndromic intellectual disability 21|MRD21|intellectual disability, autosomal dominant 21|mental retardation, autosomal dominant type 21|mental retardation, autosomal dominant 21; MRD21	http://purl.obolibrary.org/obo/MONDO_0014213		DOID:0070051|http://identifiers.org/omim/615502|ORPHA:363611|UMLS:C3809686
MONDO:0014212	sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	biolink:Disease	mondo	DOID:0111166|PMID:11095995|ICD10:E72.1|OMIM:615501|MESH:C565374|Orphanet:308400|UMLS:C1854990	ordo_etiological_subtype	molybdenum cofactor deficiency, complementation group C; MOCODC|molybdenum cofactor deficiency complementation group C|molybdenum cofactor deficiency, complementation group type C|MOCOD type C|molybdenum cofactor deficiency, complementation group C|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C|molybdenum cofactor deficiency type C|MOCODC	http://purl.obolibrary.org/obo/MONDO_0014212	A molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23.	http://identifiers.org/omim/615501|DOID:0111166|MESH:C565374|UMLS:C1854990|ORPHA:308400
HGNC:11233	SPAST	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11233		
MONDO:0014219	alacrima, achalasia, and mental retardation syndrome	biolink:Disease	mondo	OMIM:615510|UMLS:C3809738|GARD:0012404		alacrima, achalasia, and intellectual disability syndrome|AAMR|GMPPA-CDG|alacrima, achalasia, and intellectual disability syndrome; AAMR|alacrima, achalasia, and mental retardation syndrome|alacrima, achalasia, and mental retardation syndrome; AAMR	http://purl.obolibrary.org/obo/MONDO_0014219		UMLS:C3809738|http://identifiers.org/omim/615510
MONDO:0016874	partial deletion of chromosome 9	biolink:Disease	mondo	ICD10:Q93.5|Orphanet:261806	ordo_group_of_disorders	partial deletion of chromosome type 9|partial monosomy of chromosome 9	http://purl.obolibrary.org/obo/MONDO_0016874		ORPHA:261806
MONDO:0016875	partial deletion of chromosome 10	biolink:Disease	mondo	Orphanet:261811|ICD10:Q93.5	ordo_group_of_disorders	partial monosomy of chromosome 10	http://purl.obolibrary.org/obo/MONDO_0016875		ORPHA:261811
MONDO:0014218	severe dermatitis-multiple allergies-metabolic wasting syndrome	biolink:Disease	mondo	OMIM:615508|UMLS:C3809719|Orphanet:369992|ICD10:Q82.8	ordo_disease	EPKHE|severe dermatitis, multiple allergies, and metabolic wasting syndrome|erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-IgE; EPKHE|SAM syndrome|Sam syndrome|congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome|erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-IgE	http://purl.obolibrary.org/obo/MONDO_0014218		UMLS:C3809719|ORPHA:369992|http://identifiers.org/omim/615508
MONDO:0014217	telangiectasia, hereditary hemorrhagic, type 5	biolink:Disease	mondo	OMIM:615506|UMLS:C3809710		telangiectasia, hereditary hemorrhagic, type 5; HHT5|GDF2 hereditary hemorrhagic telangiectasia|telangiectasia, hereditary hemorrhagic, type 5|hereditary hemorrhagic telangiectasia caused by mutation in GDF2|HHT5	http://purl.obolibrary.org/obo/MONDO_0014217	Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the GDF2 gene.	UMLS:C3809710|http://identifiers.org/omim/615506
MONDO:0016876	partial deletion of chromosome 11	biolink:Disease	mondo	ICD10:Q93.5|Orphanet:261816	ordo_group_of_disorders	partial deletion of chromosome type 11|partial monosomy of chromosome 11	http://purl.obolibrary.org/obo/MONDO_0016876		ORPHA:261816
MONDO:0014216	primary ciliary dyskinesia 28	biolink:Disease	mondo	OMIM:615505|ICD10:Q34.8|UMLS:C3809706|DOID:0110607		primary ciliary dyskinesia caused by mutation in SPAG1|primary ciliary dyskinesia 28 with or without situs inversus|primary ciliary dyskinesia type 28|ciliary dyskinesia, primary, 28|ciliary dyskinesia, primary, 28; CILD28|CILD28|ciliary dyskinesia, primary, 28, with or without situs inversus|SPAG1 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 28	http://purl.obolibrary.org/obo/MONDO_0014216	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the SPAG1 gene.	UMLS:C3809706|http://identifiers.org/omim/615505|DOID:0110607
MONDO:0016877	partial deletion of the long arm of chromosome 12	biolink:Disease	mondo	Orphanet:261821|ICD10:Q93.5	ordo_group_of_disorders	partial deletion of chromosome 12q|partial monosomy of chromosome 12q|partial deletion of the long arm of chromosome type 12|partial monosomy of the long arm of chromosome 12	http://purl.obolibrary.org/obo/MONDO_0016877		ORPHA:261821
HGNC:11237	SPG7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11237		
MONDO:0016870	partial deletion of chromosome 5	biolink:Disease	mondo	Orphanet:261786	ordo_group_of_disorders	partial deletion of chromosome type 5|partial monosomy of chromosome 5	http://purl.obolibrary.org/obo/MONDO_0016870		ORPHA:261786
MONDO:0016871	partial deletion of chromosome 6	biolink:Disease	mondo	ICD10:Q93.5|Orphanet:261791	ordo_group_of_disorders	partial deletion of chromosome type 6|partial monosomy of chromosome 6	http://purl.obolibrary.org/obo/MONDO_0016871		ORPHA:261791
MONDO:0016872	partial deletion of chromosome 7	biolink:Disease	mondo	Orphanet:261796|ICD10:Q93.5	ordo_group_of_disorders	partial deletion of chromosome type 7|partial monosomy of chromosome 7	http://purl.obolibrary.org/obo/MONDO_0016872		ORPHA:261796
MONDO:0016873	partial deletion of chromosome 8	biolink:Disease	mondo	ICD10:Q93.5|Orphanet:261801	ordo_group_of_disorders	partial monosomy of chromosome 8|partial deletion of chromosome type 8	http://purl.obolibrary.org/obo/MONDO_0016873		ORPHA:261801
MONDO:0014211	primary ciliary dyskinesia 26	biolink:Disease	mondo	ICD10:Q34.8|OMIM:615500|DOID:0110627|UMLS:C3809684		primary ciliary dyskinesia caused by mutation in CFAP298|CILD26|ciliary dyskinesia, primary, 26|ciliary dyskinesia, primary, 26; CILD26|ciliary dyskinesia, primary, 26, with or without situs inversus|primary ciliary dyskinesia type 26|CFAP298 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 26|primary ciliary dyskinesia 26 with or without situs inversus	http://purl.obolibrary.org/obo/MONDO_0014211	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP298 gene.	http://identifiers.org/omim/615500|DOID:0110627|UMLS:C3809684
MONDO:0014210	intellectual disability-hypotonia-spasticity-sleep disorder syndrome	biolink:Disease	mondo	UMLS:C3809672|Orphanet:356996|ICD10:G93.8|OMIM:615493	ordo_disease	mental retardation, autosomal recessive type 37|mental retardation, autosomal recessive 37|intellectual disability, autosomal recessive type 37|MRT37|intellectual disability, autosomal recessive 37|mental retardation, autosomal recessive 37; MRT37|intellectual disability, autosomal recessive 37; MRT37	http://purl.obolibrary.org/obo/MONDO_0014210		http://identifiers.org/omim/615493|UMLS:C3809672|ORPHA:356996
MONDO:0041806	drug-resistant tuberculosis	biolink:Disease	mondo	SCTID:423709000		drug resistant tuberculosis	http://purl.obolibrary.org/obo/MONDO_0041806		SNOMEDCT:423709000
HGNC:11231	ATL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11231		
HGNC:13890	ITCH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13890		
HGNC:25964	RETREG1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25964		
MONDO:0022586	bone dysplasia Moore type	biolink:Disease	mondo	GARD:0000923	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022586		
MONDO:0022587	bone dysplasia corpus callosum agenesis	biolink:Disease	mondo	GARD:0000921	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022587		
MONDO:0022580	blepharo naso facial syndrome van Maldergem type	biolink:Disease	mondo	GARD:0000902	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022580	A syndrome characterized by expressionless facies, thickened facial skin, telecanthus with blepharophimosis, lacrimal duct anomalies, unusual nasal shape, and mild excess interdigital webbing.	
GO:1905125	positive regulation of glucosylceramidase activity	biolink:OntologyClass	mondo			up-regulation of glucosylsphingosine beta-D-glucosidase activity|upregulation of beta-glucosylceramidase activity|positive regulation of GlcCer-beta-glucosidase activity|upregulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|positive regulation of beta-glucocerebrosidase activity|upregulation of psychosine hydrolase activity|up regulation of ceramide glucosidase activity|upregulation of glucosylsphingosine beta-glucosidase activity|up regulation of GlcCer-beta-glucosidase activity|upregulation of glucosylcerebrosidase activity|activation of ceramide glucosidase activity|up regulation of beta-glucocerebrosidase activity|up regulation of glucosylsphingosine beta-D-glucosidase activity|up-regulation of glucocerebrosidase activity|positive regulation of beta-glucosylceramidase activity|activation of glucosylsphingosine beta-D-glucosidase activity|upregulation of acid beta-glucosidase activity|positive regulation of ceramide glucosidase activity|activation of GlcCer-beta-glucosidase activity|positive regulation of glucosylsphingosine beta-D-glucosidase activity|positive regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|up-regulation of GlcCer-beta-glucosidase activity|positive regulation of glucosylcerebrosidase activity|upregulation of beta-D-glucocerebrosidase activity|up regulation of glucocerebrosidase activity|up-regulation of glucosylceramidase activity|up-regulation of beta-glucocerebrosidase activity|activation of beta-glucocerebrosidase activity|up regulation of beta-glucosylceramidase activity|up-regulation of glucosphingosine glucosylhydrolase activity|up regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|activation of glucocerebrosidase activity|upregulation of ceramide glucosidase activity|positive regulation of GCase activity|positive regulation of glucocerebrosidase activity|up-regulation of psychosine hydrolase activity|up regulation of glucosylcerebrosidase activity|positive regulation of acid beta-glucosidase activity|upregulation of glucosylsphingosine beta-D-glucosidase activity|up-regulation of beta-glucosylceramidase activity|up regulation of glucosphingosine glucosylhydrolase activity|activation of beta-glucosylceramidase activity|up-regulation of glucosylsphingosine beta-glucosidase activity|up regulation of glucosylceramidase activity|activation of glucosylceramidase activity|up regulation of acid beta-glucosidase activity|activation of glucosphingosine glucosylhydrolase activity|up-regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|activation of D-glucosyl-N-acylsphingosine glucohydrolase activity|positive regulation of beta-D-glucocerebrosidase activity|activation of glucosylcerebrosidase activity|positive regulation of glucosphingosine glucosylhydrolase activity|up regulation of psychosine hydrolase activity|up-regulation of glucosylcerebrosidase activity|upregulation of glucocerebrosidase activity|up regulation of beta-D-glucocerebrosidase activity|upregulation of GlcCer-beta-glucosidase activity|up regulation of glucosylsphingosine beta-glucosidase activity|activation of psychosine hydrolase activity|upregulation of beta-glucocerebrosidase activity|positive regulation of psychosine hydrolase activity|up-regulation of acid beta-glucosidase activity|activation of glucosylsphingosine beta-glucosidase activity|activation of acid beta-glucosidase activity|positive regulation of glucosylsphingosine beta-glucosidase activity|up-regulation of ceramide glucosidase activity|upregulation of glucosphingosine glucosylhydrolase activity|upregulation of glucosylceramidase activity|up-regulation of beta-D-glucocerebrosidase activity|activation of beta-D-glucocerebrosidase activity	http://purl.obolibrary.org/obo/GO_1905125	Any process that activates or increases the frequency, rate or extent of glucosylceramidase activity.	
HGNC:11326	SSR4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11326		
ENVO:01001088	aerosolised liquids	biolink:OntologyClass	mondo			liquid aerosol	http://purl.obolibrary.org/obo/ENVO_01001088	An aerosol which has non-gaseous parts that are primarily composed of liquid droplets.	
ENVO:01001087	formation of a liquid aerosol in an atmosphere	biolink:OntologyClass	mondo			formation of liquid droplets in an atmosphere|formation of liquid particles in an atmosphere	http://purl.obolibrary.org/obo/ENVO_01001087	A process during which an aerosol, consisting of droplets of liquid suspended in gas, is formed in an atmosphere.	
ENVO:01001089	aerosolised solids	biolink:OntologyClass	mondo			solid aerosol	http://purl.obolibrary.org/obo/ENVO_01001089	An aerosol which has non-gaseous parts that are primarily composed of solid particles.	
ENVO:01001084	particulate matter formation process	biolink:OntologyClass	mondo			particle formation	http://purl.obolibrary.org/obo/ENVO_01001084	A process during which microscopic solid or liquid objects are formed.	
GO:0090324	negative regulation of oxidative phosphorylation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0090324	Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis.	
ENVO:01001086	formation of a solid aerosol in an atmosphere	biolink:OntologyClass	mondo			formation of solid particles in an atmosphere	http://purl.obolibrary.org/obo/ENVO_01001086	A process during which an aerosol, consisting of solid particulates suspended in a gas, is formed in an atmosphere.	
ENVO:01001085	atmospheric aerosol formation	biolink:OntologyClass	mondo			atmospheric aerosol formation	http://purl.obolibrary.org/obo/ENVO_01001085	An aerosol formation process which occurs in an atmosphere.	
MONDO:0022572	bilateral renal agenesis dominant type	biolink:Disease	mondo	GARD:0000885	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022572		
MONDO:0022573	biliary atresia intrahepatic non syndromic form	biolink:Disease	mondo	GARD:0000887	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022573		
MONDO:0022574	biliary atresia intrahepatic syndromic form	biolink:Disease	mondo	GARD:0000888	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022574		
MONDO:0022575	biliary hypoplasia	biolink:Disease	mondo	GARD:0008383	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022575	A syndromic disease characterised by a small ductal system and reduction in the number of interlobular bile ducts.	
MONDO:0022576	bilirubin induced brain injury in the newborn	biolink:Disease	mondo	GARD:0009243	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022576		
MONDO:0022577	Billet bear syndrome	biolink:Disease	mondo	GARD:0000892	gard_rare	Lower limb partial duplication renal agenesis|billet-bear syndrome	http://purl.obolibrary.org/obo/MONDO_0022577	A congenital malformation syndrome characterized by partial duplication of the left lower limb and aplasia of the ipsilateral kidney, plus other congenital malformations.	
MONDO:0022578	childhood bladder carcinoma	biolink:Disease	mondo	UMLS:C3899675|GARD:0009305|NCIT:C118816	gard_rare	childhood bladder cancer|bladder cancer childhood|bladder cancer|bladder carcinoma, childhood|childhood bladder carcinoma|bladder cancer, childhood	http://purl.obolibrary.org/obo/MONDO_0022578	A rare carcinoma of the bladder that occurs during childhood.	NCIT:C118816|UMLS:C3899675
MONDO:0010594	inherited genitourinary tract anomalies (disease)	biolink:Disease	mondo	OMIM:305690|MESH:C564424|HP:0000119		genitourinary tract anomalies	http://purl.obolibrary.org/obo/MONDO_0010594		http://identifiers.org/omim/305690|MESH:C564424
HGNC:11335	SSX1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11335		
MONDO:0010593	obsolete Frontometaphyseal dysplasia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0010593		
MONDO:0010596	membranoproliferative glomerulonephritis, X-linked	biolink:Disease	mondo	UMLS:C1844501|MESH:C564423|OMIM:305800		membranoproliferative glomerulonephritis, X-linked|Mesangiocapillary glomerulonephritis, X-linked	http://purl.obolibrary.org/obo/MONDO_0010596		UMLS:C1844501|http://identifiers.org/omim/305800|MESH:C564423
MONDO:0010595	Sertoli cell-only syndrome	biolink:Disease	mondo	GARD:0008406|SCTID:73465006|MESH:D054331|EFO:1001422|DOID:0050457|ICD9:752.89	gard_rare	Sertoli cell-only syndrome|Del Castillo syndrome|Germinal cell aplasia|DEL CASTILLO syndrome	http://purl.obolibrary.org/obo/MONDO_0010595	Sertoli cell-only syndrome (SCO syndrome) is a cause of male infertility. In SCO syndrome, only Sertoli cells (cells that nurture the immature sperm) line the seminiferous tubules (tubes inside the testicles where sperm develop). Therefore, there are not any sperm cells present in the seminiferous tubules. Men typically learn they are affected between ages 20-40 years when being evaluated for infertility and are found to have no sperm production (azoospermia). Other signs and symptoms are rare, but in some cases there could be an underlying cause of SCO syndrome that causes other symptoms, such as Klinefelter syndrome. Most cases of SCO syndrome are idiopathic (of unknown cause), but causes may include deletions of genetic information on regions of the Y-chromosome, especially on the azoospermia factor (AZF) region of Y-chromosome. Other causes include exposure to chemicals or toxins, history of radiation therapy, and history of severe trauma. Diagnosis of SCO syndrome is confirmed with testicular biopsy. Although there is currently no effective treatment, assisted reproductive technology may assist some men with SCO syndrome in being able to have children.	MESH:D054331|DOID:0050457|SNOMEDCT:73465006
MONDO:0010598	glycogen storage disease IXa	biolink:Disease	mondo	MESH:C564421|OMIM:306000|ICD10:E74.0|DOID:0111042		GSD9A1|glycogen storage disease IXa1|glycogen storage disease type 9A|PHKA2 glycogen storage disease|GSD type 9A|glycogen storage disease VIII, formerly|glycogen storage disease IXa1; GSD9A1|GSD type IXa|GSD VIII, formerly|glycogen storage disease VIII|GSD VIII|glycogen storage disease type IXa|glycogenosis type IXa|liver glycogenosis, X-linked, type 2|glycogenosis type 9A|glycogen storage disease IXa2|liver glycogenosis, X-linked, type 1|GSD IXa2|GSD9A|PHKA2-related glycogen storage disease type IX|glycogen storage disease caused by mutation in PHKA2	http://purl.obolibrary.org/obo/MONDO_0010598	Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene.	DOID:0111042|MESH:C564421|http://identifiers.org/omim/306000
MONDO:0010597	glutamyl ribose-5-phosphate storage disease	biolink:Disease	mondo	MESH:C564422|OMIM:305920|UMLS:C1844440		ADP-ribose Protein hydrolase deficiency|glutamyl ribose-5-phosphate storage disease	http://purl.obolibrary.org/obo/MONDO_0010597		UMLS:C1844440|MESH:C564422|http://identifiers.org/omim/305920
NCBITaxon:302011	Rickettsia conorii subsp. caspia	organism taxon	mondo	PMID:15766388|GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_302011		
MONDO:0010599	granulomas, congenital cerebral	biolink:Disease	mondo	UMLS:C1844406|OMIM:306300|GARD:0008368|MESH:C537294	gard_rare	congenital cerebral granulomas|granulomas, congenital cerebral	http://purl.obolibrary.org/obo/MONDO_0010599		UMLS:C1844406|MESH:C537294|http://identifiers.org/omim/306300
HGNC:11336	SSX2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11336		
HGNC:13997	PRDM12	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13997		
HGNC:13993	PRDM8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13993		
MONDO:0010590	FG syndrome 1	biolink:Disease	mondo	OMIM:305450|Orphanet:93932		FG syndrome|Opitz-Kaveggia syndrome|FG syndrome type 1|Opitz-Kaveggia syndrome; OKS|MED12 FG syndrome|mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|Keller syndrome|OKS|FG syndrome caused by mutation in MED12|FG syndrome 1|intellectual disability, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum	http://purl.obolibrary.org/obo/MONDO_0010590	Any FG syndrome in which the cause of the disease is a mutation in the MED12 gene.	ORPHA:93932|http://identifiers.org/omim/305450
MONDO:0010592	focal dermal hypoplasia	biolink:Disease	mondo	Orphanet:2092|SCTID:205573006|DOID:2120|UMLS:C0016395|GARD:0006457|MESH:D005489|OMIM:305600|ICD9:757.39|NCIT:C84715|ICD10:Q82.8	ordo_malformation_syndrome	Goltz Gorlin syndrome|Goltz-Gorlin syndrome|focal dermal hypoplasia|focal dermal hypoplasia; FDH|Goltz syndrome|Fodh|DHOF|FDH	http://purl.obolibrary.org/obo/MONDO_0010592	Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.	http://identifiers.org/omim/305600|DOID:2120|MESH:D005489|NCIT:C84715|UMLS:C0016395|ORPHA:2092|SNOMEDCT:205573006
MONDO:0010591	fingerprint body myopathy	biolink:Disease	mondo	OMIM:305550|ICD10:G71.2|Orphanet:97232|UMLS:C1844560|MESH:C564425|GARD:0012720	ordo_disease|gard_rare	fingerprint body myopathy	http://purl.obolibrary.org/obo/MONDO_0010591	Fingerprint body myopathy is a congenital benign muscle disorder characterised by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission.	http://identifiers.org/omim/305550|MESH:C564425|UMLS:C1844560|ORPHA:97232
HGNC:25941	TET2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25941		
HGNC:25947	KLHL24	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25947		
MONDO:0022566	obsolete BEST1 retinopathy	biolink:Disease	mondo		gard_rare		http://purl.obolibrary.org/obo/MONDO_0022566		
MONDO:0022567	bhaskar jagannathan syndrome	biolink:Disease	mondo	MESH:C535437|UMLS:C2930901			http://purl.obolibrary.org/obo/MONDO_0022567		MESH:C535437|UMLS:C2930901
MONDO:0022568	bidirectional tachycardia	biolink:Disease	mondo	GARD:0000878|UMLS:C2930902|MESH:C535438	gard_rare	bidirectional ventricular tachycardia	http://purl.obolibrary.org/obo/MONDO_0022568		UMLS:C2930902|MESH:C535438
MONDO:0010579	X-linked corneal dermoid	biolink:Disease	mondo	SCTID:715426004|UMLS:C1844671|OMIM:304730|ICD10:Q13.4|MESH:C535376|Orphanet:1661|GARD:0002580	ordo_disease|gard_rare	dermoids of cornea|corneal dermoids and short stature|Guízar Vázquez-Luengas-muñoz syndrome|dermoids of cornea; CND|bilateral corneal dermoids|CND|corneal dystrophy epithelial-short stature syndrome|Guizar-Vazquez Luengas-Munoz syndrome	http://purl.obolibrary.org/obo/MONDO_0010579	X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders.No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission.	SNOMEDCT:715426004|UMLS:C1844671|ORPHA:1661|MESH:C535376|http://identifiers.org/omim/304730
MONDO:0009589	mesomelic dwarfism-cleft palate-camptodactyly syndrome	biolink:Disease	mondo	GARD:0003552|OMIM:249710|MESH:C565404|SCTID:715471007|ICD10:Q78.8|Orphanet:2631	ordo_malformation_syndrome|gard_rare	mesomelic dysplasia, Reardon type|Reardon-Hall-Slaney syndrome|mesomelic dysplasia, Kozlowski-Reardon type|mesomelic dwarfism cleft palate camptodactyly|mesomelic limb shortening and bowing	http://purl.obolibrary.org/obo/MONDO_0009589	Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.	http://identifiers.org/omim/249710|UMLS:C2930871|SNOMEDCT:715471007|ORPHA:2631|MESH:C565404
MONDO:0009588	Langer mesomelic dysplasia	biolink:Disease	mondo	UMLS:C0432230|Orphanet:2632|OMIM:249700|NCIT:C126876|ICD10:Q87.1|SCTID:38494008|ICD9:756.59|MESH:C537267|GARD:0003553	ordo_malformation_syndrome|gard_rare	Langer mesomelic dysplasia; LMD|dyschondrosteosis, homozygous|mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type|Langer type mesomelic dysplasia|mesomelic dwarfism, Langer type|mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type|Langer syndrome|Langer mesomelic dysplasia|LMD	http://purl.obolibrary.org/obo/MONDO_0009588	Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.	NCIT:C126876|http://identifiers.org/omim/249700|ORPHA:2632|MESH:C537267|UMLS:C0432230|SNOMEDCT:38494008
GO:1905153	regulation of membrane invagination	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1905153	Any process that modulates the frequency, rate or extent of membrane invagination.	
MONDO:0009587	mesoaxial hexadactyly and cardiac malformation	biolink:Disease	mondo	OMIM:249670|MESH:C563087|UMLS:C0796057		Mexican Cardiomelic dysplasia|mesoaxial hexadactyly and cardiac malformation	http://purl.obolibrary.org/obo/MONDO_0009587		http://identifiers.org/omim/249670|UMLS:C0796057|MESH:C563087
GO:1905154	negative regulation of membrane invagination	biolink:OntologyClass	mondo			downregulation of membrane invagination|inhibition of membrane invagination|down-regulation of membrane invagination|down regulation of membrane invagination	http://purl.obolibrary.org/obo/GO_1905154	Any process that stops, prevents or reduces the frequency, rate or extent of membrane invagination.	
MONDO:0009586	mesangial sclerosis, diffuse renal, with ocular abnormalities	biolink:Disease	mondo	MESH:C565405|UMLS:C1855282|OMIM:249660		mesangial sclerosis, diffuse renal, with ocular abnormalities	http://purl.obolibrary.org/obo/MONDO_0009586		http://identifiers.org/omim/249660|MESH:C565405|UMLS:C1855282
GO:1905155	positive regulation of membrane invagination	biolink:OntologyClass	mondo			up-regulation of membrane invagination|up regulation of membrane invagination|activation of membrane invagination|upregulation of membrane invagination	http://purl.obolibrary.org/obo/GO_1905155	Any process that activates or increases the frequency, rate or extent of membrane invagination.	
MONDO:0009585	encephalopathy due to beta-mercaptolactate-cysteine disulfiduria	biolink:Disease	mondo	ICD10:E72.1|GARD:0000654|OMIM:249650|Orphanet:1035|MESH:C563085|UMLS:C0796055	ordo_disease|gard_rare	Beta-mercaptolactate cysteine disulfiduria|3-mercaptopyruvate sulfurtransferase deficiency|mercaptolactate-cysteine disulfiduria; MCDU|disulfiduria, mixed|mercaptolactate-cysteine disulfiduria|Ampola syndrome|MCDU	http://purl.obolibrary.org/obo/MONDO_0009585		http://identifiers.org/omim/249650|UMLS:C0796055|ORPHA:1035|MESH:C563085
MONDO:0009584	intellectual disability, Buenos-Aires type	biolink:Disease	mondo	OMIM:249630|SCTID:725906006|ICD10:Q87.8|Orphanet:3079|UMLS:C0796080|GARD:0003485|MESH:C563095	gard_rare|ordo_malformation_syndrome	mental retardation Buenos Aires type|intellectual deficit Buenos-Aires type|Mutchinick syndrome|mental retardation, Buenos Aires type|intellectual disability, Buenos Aires type|intellectual disability Buenos Aires type	http://purl.obolibrary.org/obo/MONDO_0009584	Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe.	http://identifiers.org/omim/249630|UMLS:C0796080|ORPHA:3079|MESH:C563095|SNOMEDCT:725906006
MONDO:0022560	benign metastasizing leiomyoma	biolink:Disease	mondo	GARD:0010776	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022560	A rare disorder that affects women with a history of uterine leiomyoma, which is found to metastasise within extrauterine sites.The disease develops as a proliferation of multiple nodules composed of smooth muscle cells.The most frequent site of metastasis is the lungs, although other areas may also be affected as well, including some atypical locations, e.g. the heart or spinal cord.	
MONDO:0009583	blepharophimosis - intellectual disability syndrome, Ohdo type	biolink:Disease	mondo	SCTID:412787009|ICD9:374.89|OMIM:249620|Orphanet:2728|ICD9:525.8|UMLS:C0796094	ordo_malformation_syndrome	Ohdo blepharophimosis syndrome|mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth|Ohdo-Madokoro-Sonoda syndrome|intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth|Ohdo syndrome|blepharophimosis syndrome, Ohdo type|BMRS, Ohdo type	http://purl.obolibrary.org/obo/MONDO_0009583	Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.	UMLS:C2931643|SNOMEDCT:412787009|UMLS:C0796094|ORPHA:2728|http://identifiers.org/omim/249620
MONDO:0010583	Dyggve-Melchior-Clausen syndrome, X-linked	biolink:Disease	mondo	OMIM:304950|UMLS:C1844654		Dyggve-Melchior-Clausen disease, X-linked|X-linked Dyggve-Melchior-Clausen disease|Dyggve-Melchior-Clausen syndrome, X-linked	http://purl.obolibrary.org/obo/MONDO_0010583	X-linked form of Dyggve-Melchior-Clausen disease.	UMLS:C1844654|http://identifiers.org/omim/304950
GO:0090305	nucleic acid phosphodiester bond hydrolysis	biolink:OntologyClass	mondo			nucleic acid cleavage	http://purl.obolibrary.org/obo/GO_0090305	The nucleic acid metabolic process in which the phosphodiester bonds between nucleotides are cleaved by hydrolysis.	
MONDO:0009582	Mietens syndrome	biolink:Disease	mondo	SCTID:40291001|OMIM:249600|GARD:0003524|UMLS:C0265249|Orphanet:2557|MESH:C537444|ICD9:759.89|ICD10:Q87.8	ordo_malformation_syndrome	intellectual disability syndrome, Mietens-WEBER type|corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and mental retardation|Mietens-Weber syndrome|mental retardation syndrome, Mietens Weber type|intellectual disability, Mietens-Weber type|mental retardation syndrome, Mietens-WEBER type|intellectual disability syndrome, Mietens Weber type|corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0009582	Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii.	ORPHA:2557|UMLS:C0265249|MESH:C537444|SNOMEDCT:40291001|http://identifiers.org/omim/249600
MONDO:0010582	obsolete diabetes insipidus, neurohypophyseal type, X-linked inheritance	biolink:Disease	mondo	UMLS:CN074293|OMIM:304900		diabetes insipidus, neurohypophyseal type	http://purl.obolibrary.org/obo/MONDO_0010582		http://identifiers.org/omim/304900|UMLS:CN074293
GO:0090303	positive regulation of wound healing	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0090303	Any process that increases the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury.	
MONDO:0009581	intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome	biolink:Disease	mondo	SCTID:722454003|UMLS:C1855303|OMIM:249599|Orphanet:3044|ICD10:Q87.8|MESH:C537447|GARD:0009811	gard_rare|ordo_malformation_syndrome	intellectual disability syndrome, Belgian type|Belgian type mental retardation syndrome|Belgian type intellectual disability syndrome|mental retardation syndrome, Belgian type	http://purl.obolibrary.org/obo/MONDO_0009581	Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome is characterised by moderate intellectual deficit, craniofacial dysmorphism (including broad nose with coloboma of the alea nasi, deep-set eyes, prognathism), hypergonadotropic hypogonadism, eunuchoid habitus, type 1 diabetes mellitus, and epilepsy. It has been described in four patients (three brothers and their sister). This syndrome is probably transmitted as an autosomal recessive trait.	ORPHA:3044|MESH:C537447|SNOMEDCT:722454003|UMLS:C1855303|http://identifiers.org/omim/249599
MONDO:0010585	X-linked hypohidrotic ectodermal dysplasia	biolink:Disease	mondo	GARD:0010427|ICD10:Q82.4|Orphanet:181|OMIM:305100	ordo_etiological_subtype	X-linked anhidrotic ectodermal dysplasia|ectodermal dysplasia, anhidrotic, X-linked|hypohidrotic ectodermal dysplasia, X-linked|ectodermal dysplasia 1|ectodermal dysplasia 1, hypohidrotic, X-linked|Xlhed|Eda1|hypohidrotic ectodermal dysplasia X-linked|CST syndrome|ectodermal dysplasia 1, hypohidrotic, X-linked; XHED|anhidrotic ectodermal dysplasia X-linked|ectodermal dysplasia 1, hypohidrotic/hair/Tooth type, X-linked|Christ-Siemens-Touraine syndrome|ectodermal dysplasia, hypohidrotic, 1|XHED	http://purl.obolibrary.org/obo/MONDO_0010585	An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin.	ORPHA:181|UMLS:C0162359|http://identifiers.org/omim/305100|MESH:D053358
MONDO:0009580	intellectual disability, autosomal recessive 1	biolink:Disease	mondo	MESH:C565406|OMIM:249500|UMLS:C1855304		mental retardation, autosomal recessive 1; MRT1|intellectual disability, autosomal recessive 1|mental retardation, autosomal recessive type 1|autosomal recessive non-syndromic intellectual disability caused by mutation in PRSS12|intellectual disability, autosomal recessive 1; MRT1|mental retardation, autosomal recessive 1|intellectual disability, autosomal recessive type 1|MRT1|PRSS12 autosomal recessive non-syndromic intellectual disability	http://purl.obolibrary.org/obo/MONDO_0009580	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PRSS12 gene.	UMLS:C1855304|MESH:C565406|http://identifiers.org/omim/249500
MONDO:0010584	dyskeratosis congenita, X-linked	biolink:Disease	mondo	GARD:0002007|OMIM:305000|DOID:0070025|NCIT:C126352|SCTID:708536001		dyskeratosis congenita X-linked|Zinsser-Cole-Engman syndrome|DKCX|Hoyeraal Hreidarsson syndrome|DKCX|X-linked dyskeratosis congenita|Growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia|Hoyeraal-Hreidarsson syndrome|cerebellar hypoplasia with pancytopenia|dyskeratosis congenita, X-linked|X-linked dyskeratosis congenita|dyskeratosis congenita, X-linked; DKCX	http://purl.obolibrary.org/obo/MONDO_0010584	X-linked form of dyskeratosis congenita.	http://identifiers.org/omim/305000|NCIT:C126352|SNOMEDCT:708536001|DOID:0070025
GO:0090304	nucleic acid metabolic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0090304	Any cellular metabolic process involving nucleic acids.	
MONDO:0010587	epidermodysplasia verruciformis, X-linked	biolink:Disease	mondo	MESH:C564430|UMLS:C1844589|OMIM:305350		epidermodysplasia verruciformis, X-linked; EDVX; EDV2|EDV2|epidermodysplasia verruciformis, X-linked; EDVX|X-linked epidermodysplasia verruciformis|EDVX|epidermodysplasia verruciformis, X-linked	http://purl.obolibrary.org/obo/MONDO_0010587	X-linked form of epidermodysplasia verruciformis.	UMLS:C1844589|http://identifiers.org/omim/305350|MESH:C564430
MONDO:0010586	X-linked Ehlers-Danlos syndrome	biolink:Disease	mondo	OMIM:305200|ICD10:Q79.6|MESH:C536197|NCIT:C141423|Orphanet:75497|SCTID:67202007|UMLS:C0268341	ordo_disease	Ehlers-Danlos syndrome, type V|Ehlers-Danlos syndrome, type 5|Ehlers-Danlos syndrome type 5|Ehlers-Danlos syndrome, X-linked|EDS V|EDS5|EDS 5	http://purl.obolibrary.org/obo/MONDO_0010586	Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. EDS type V is characterised by hyperextensible skin but tissue fragility and joint hyperlaxity are mild. This form of EDS is very rare and has been described in only two families so far. Other reported features include congenital heart disease, hernias and short stature. Transmission is X-linked recessive.	MESH:C536197|http://identifiers.org/omim/305200|NCIT:C141423|UMLS:C0268341|SNOMEDCT:67202007|ORPHA:75497
MONDO:0010589	Aarskog-Scott syndrome, X-linked	biolink:Disease	mondo	Orphanet:915|OMIM:305400|SCTID:14921002|NCIT:C129720|MedDRA:10067148|GARD:0004775|ICD10:Q87.1|MESH:C535331|ICD9:759.89		Aarskog-Scott syndrome; AAS|faciogenital dysplasia|faciodigitogenital syndrome|mental retardation, X-linked, syndromic 16, included|Aarskog syndrome, X-linked|mental retardation, X-linked, syndromic 16|MRXS16, included|Aarskog syndrome|faciodigitogenital syndrome, recessive|Aarskog Scott syndrome|faciogenital dysplasia with attention Deficit-hyperactivity disorder|AAS|Aarskog-Scott syndrome|FGD|Scott Aarskog syndrome|Aarskog-like syndrome|FGDY|Aarskog disease|facio-digito-genital dysplasia	http://purl.obolibrary.org/obo/MONDO_0010589	Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.	NCIT:C129720|http://identifiers.org/omim/305400|MESH:C535331|ORPHA:915|SNOMEDCT:14921002
MONDO:0010588	exudative vitreoretinopathy 2, X-linked	biolink:Disease	mondo	UMLS:C1844579|DOID:0111413|MESH:C564428|OMIM:305390		Fevr, X-linked|exudative vitreoretinopathy 2, X-linked; EVR2|EVR2|exudative vitreoretinopathy, familial, 2|Evrx|exudative vitreoretinopathy 2, X-linked|NDP exudative vitreoretinopathy|exudative vitreoretinopathy caused by mutation in NDP	http://purl.obolibrary.org/obo/MONDO_0010588	Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the NDP gene.	UMLS:C1844579|http://identifiers.org/omim/305390|DOID:0111413|MESH:C564428
HGNC:11303	SRP72	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11303		
MONDO:0022559	benign angiitis of the central nervous system	biolink:Disease	mondo	GARD:0008704	gard_rare	BACNS	http://purl.obolibrary.org/obo/MONDO_0022559	A central nervous system vasculitis that has a benign course, with acute onset of neurologic symptoms, usually in the form of severe headache and/or a focal neurologic event.	
MONDO:0010581	diabetes insipidus, nephrogenic, X-linked	biolink:Disease	mondo	UMLS:C1563705|OMIM:304800		diabetes insipidus, nephrogenic, type 1|Ndi|diabetes insipidus, nephrogenic, X-linked	http://purl.obolibrary.org/obo/MONDO_0010581		http://identifiers.org/omim/304800|UMLS:C1563705
MONDO:0010580	immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	biolink:Disease	mondo	ICD9:250.81|OMIM:304790|DOID:0090110|ICD10:E31.0|MESH:C580192|GARD:1850|NCIT:C131009|GARD:0001850|SCTID:237618001|Orphanet:37042	ordo_disease	islets of Langerhans, absence of|IPEX syndrome|immunodeficiency, polyendocrinopathy, and enteropathy, X-linked, formerly|XLAAD|diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea|autoimmunity-immunodeficiency syndrome x-linked|IDDM secretory diarrhea syndrome|polyendocrinopathy, immune dysfunction and diarrhea x-linked|immunodeficiency, polyendocrinopathy, and enteropathy, X-linked|Immunodysregulation, polyendocrinopathy and enteropathy X-linked|polyendocrinopathy, immune dysfunction, and diarrhea, X-linked|IPEX|immune dysregulation, polyendocrinopathy, and enteropathy X-linked syndrome|DMSD|autoimmunity-immunodeficiency syndrome, X-linked|immune dysfunction and diarrhea syndrome|X-linked autoimmunity-allergic dysregulation syndrome|IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked; IPEX|immunodysregulation, polyendocrinopathy, and enteropathy, X-linked|X linked polyendocrinopathy|autoimmune enteropathy type 1|Iddm-secretory diarrhea syndrome|IDDM-secretory diarrhea syndrome|enteropathy, autoimmune, with hemolytic Anemia and polyendocrinopathy|diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked|IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked|XPID	http://purl.obolibrary.org/obo/MONDO_0010580	Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.	NCIT:C131009|ORPHA:37042|DOID:0090110|MESH:C580192|http://identifiers.org/omim/304790|SNOMEDCT:237618001
MONDO:0022551	Basedow's coma	biolink:Disease	mondo	GARD:0008177	gard_rare	Coma basedovicum|Karl Adolph von Basedow	http://purl.obolibrary.org/obo/MONDO_0022551	A polygenic and multifactorial disease that develops as a result of a complex interplay between genetic susceptibility and environmental and endogenous factors, which leads to the loss of immune tolerance to thyroid antigens and in particular to the TSH receptor.	
MONDO:0022552	Bazopoulou Kyrkanidou syndrome	biolink:Disease	mondo	MESH:C537664|UMLS:C2931580			http://purl.obolibrary.org/obo/MONDO_0022552		MESH:C537664|UMLS:C2931580
MONDO:0022553	BD syndrome	biolink:Disease	mondo	GARD:0000841	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022553		
MONDO:0022555	Beardwell syndrome	biolink:Disease	mondo	MESH:C537665|UMLS:C2931581		familial ankylosing vertebral hyperostosis with tylosis	http://purl.obolibrary.org/obo/MONDO_0022555		MESH:C537665|UMLS:C2931581
MONDO:0022556	oculo-cerebral dysplasia	biolink:Disease	mondo	GARD:0004021	gard_rare	Behrens Baumann dust syndrome|Behrens-Baumann-Vogel syndrome|unilateral aplasia of the optic nerve with cryptophthalmus and contralateral microphthalmus|microphthalmia-optic nerve dysplasia	http://purl.obolibrary.org/obo/MONDO_0022556		
MONDO:0022557	behrens baumann dust syndrome	biolink:Disease	mondo	MESH:C537670		oculo-cerebral dysplasia	http://purl.obolibrary.org/obo/MONDO_0022557		MESH:C537670
MONDO:0010569	X-linked complicated corpus callosum dysgenesis	biolink:Disease	mondo	UMLS:C1839909|ICD10:Q04.8|OMIM:304100|MESH:C564115|GARD:0012526|Orphanet:1497	ordo_clinical_subtype	corpus callosum, partial agenesis of, X-linked|X-linked partial agenesis of corpus callosum|X-linked complicated corpus callosum agenesis|X-linked partial corpus callosum agenesis	http://purl.obolibrary.org/obo/MONDO_0010569	X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum.	ORPHA:1497|MESH:C564115|http://identifiers.org/omim/304100|UMLS:C1839909
MONDO:0010568	Aicardi syndrome	biolink:Disease	mondo	Orphanet:50|DOID:8461|OMIM:304050|ICD10:Q04.0|MedDRA:10054935|SCTID:80651009|GARD:0005764|MESH:D058540|NCIT:C35256|UMLS:C0175713	gard_rare|ordo_disease	Aicardi syndrome; AIC|agenesis of corpus callosum with chorioretinal abnormality|corpus callosum agenesis of with chorioretinal abnormality|Aicardi syndrome|corpus callosum, agenesis of, with chorioretinal Abnormality|AIC	http://purl.obolibrary.org/obo/MONDO_0010568	Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females.	MESH:D058540|DOID:8461|MEDDRA:10054935|NCIT:C35256|SNOMEDCT:80651009|UMLS:C0175713|http://identifiers.org/omim/304050|ORPHA:50
MONDO:0009599	metaphyseal dysostosis-intellectual disability-conductive deafness syndrome	biolink:Disease	mondo	ICD10:Q78.5|Orphanet:2502|GARD:0003566|UMLS:C1855175|OMIM:250420|MESH:C565396	ordo_malformation_syndrome|gard_rare	metaphyseal dysostosis intellectual disability conductive deafness|metaphyseal dysostosis, conductive hearing loss and mental retardation|metaphyseal dysostosis, conductive hearing loss and intellectual disability|metaphyseal dysostosis, intellectual disability, and conductive deafness|metaphyseal dysostosis, mental retardation, and conductive deafness|metaphyseal dysostosis mental retardation conductive deafness	http://purl.obolibrary.org/obo/MONDO_0009599	Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive.	http://identifiers.org/omim/250420|ORPHA:2502|UMLS:C1855175|MESH:C565396
MONDO:0009598	metaphyseal chondrodysplasia-retinitis pigmentosa syndrome	biolink:Disease	mondo	UMLS:C1855188|Orphanet:166035|MESH:C565398|OMIM:250410	ordo_disease	retinitis pigmentosa with or without skeletal anomalies; RPSKA|brachydactyly-short stature-retinitis pigmentosa syndrome|retinitis pigmentosa with or without skeletal anomalies|RPSKA|metaphyseal chondrodysplasia with retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0009598		ORPHA:166035|http://identifiers.org/omim/250410|UMLS:C1855188|MESH:C565398
MONDO:0009597	metaphyseal chondrodysplasia, Spahr type	biolink:Disease	mondo	GARD:0003563|Orphanet:2501|UMLS:C0432225|OMIM:250400|MESH:C537353|SCTID:254084008|ICD10:Q78.5	ordo_disease	metaphyseal dysplasia, Spahr type; MDST|MDST|metaphyseal dysplasia, Spahr type|metaphyseal chondrodysplasia, Spahr type|Spahr type metaphyseal chondrodysplasia|metaphyseal chondrodysplasia Spahr type	http://purl.obolibrary.org/obo/MONDO_0009597		http://identifiers.org/omim/250400|ORPHA:2501|MESH:C537353|UMLS:C0432225|SNOMEDCT:254084008
MONDO:0009596	metaphyseal chondrodysplasia, Pena type	biolink:Disease	mondo	OMIM:250300|UMLS:C1855195|MESH:C565399		metaphyseal chondrodysplasia, Pena type	http://purl.obolibrary.org/obo/MONDO_0009596		http://identifiers.org/omim/250300|UMLS:C1855195|MESH:C565399
MONDO:0009595	cartilage-hair hypoplasia	biolink:Disease	mondo	ICD10:Q78.8|DOID:14773|NCIT:C61245|MESH:C535916|UMLS:C0220748|MedDRA:10069596|SCTID:7720002|Orphanet:175|OMIM:250250|GARD:0006996	gard_rare|ordo_disease	cartilage-hair hypoplasia|cartilage hair hypoplasia like syndrome|metaphyseal chondrodysplasia McKusick type|metaphyseal chondrodysplasia, McKusick type|autosomal recessive metaphyseal chondrodysplasia|cartilage hair hypoplasia|cartilage-hair hypoplasia; CHH|metaphyseal chondrodysplasia, Mckusick type|CHH|McKusick type metaphyseal chondrodysplasia	http://purl.obolibrary.org/obo/MONDO_0009595	Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.	http://identifiers.org/omim/250250|SNOMEDCT:7720002|ORPHA:175|DOID:14773|NCIT:C61245|MESH:C535916|MEDDRA:10069596|UMLS:C0220748
MONDO:0009594	metaphyseal chondrodysplasia, Kaitila type	biolink:Disease	mondo	Orphanet:166038|UMLS:C1855217|MESH:C565400|OMIM:250230	ordo_disease	metaphyseal chondrodysplasia, Kaitila type	http://purl.obolibrary.org/obo/MONDO_0009594	Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982.	ORPHA:166038|http://identifiers.org/omim/250230|UMLS:C1855217|MESH:C565400
MONDO:0010572	occipital horn syndrome	biolink:Disease	mondo	DOID:0111272|MESH:C537860|ICD10:E83.0|OMIM:304150|SCTID:59399004|GARD:0004017|Orphanet:198	ordo_disease	EDS IX (formerly)|EDS IX|Ehlers-Danlos syndrome, occipital horn type (formerly)|Ehlers-Danlos syndrome, occipital horn type, formerly|Ehlers-Danlos syndrome, occipital horn type|EDS IX, formerly|Ehlers-Danlos syndrome type IX|EDS IX|occipital horn syndrome; OHS|occipital horn syndrome|OHS|X-linked cutis laxa|EDS9, formerly|EDS9|cutis laxa, X-linked, formerly|Ehlers-Danlos syndrome type 9|cutis laxa X-linked|cutis laxa, X-linked	http://purl.obolibrary.org/obo/MONDO_0010572	Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.	SNOMEDCT:59399004|ORPHA:198|DOID:0111272|MESH:C537860|http://identifiers.org/omim/304150|UMLS:C0268353
ENVO:01001091	formation of a liquid aerosol from gaseous material in an atmosphere	biolink:OntologyClass	mondo			formation of a liquid aerosol in an atmosphere|formation of liquid particles from gaseous material in an atmosphere|atmospheric formation of a liquid aerosol|formation of a liquid aerosol in the atmosphere|formation of liquid droplets from gaseous material in an atmosphere	http://purl.obolibrary.org/obo/ENVO_01001091	A process during which microscopic liquid droplets are formed from gaseous materials in an atmosphere.	
GO:0090316	positive regulation of intracellular protein transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0090316	Any process that activates or increases the frequency, rate or extent of the directed movement of proteins within cells.	
MONDO:0010571	otopalatodigital syndrome type 2	biolink:Disease	mondo	ICD10:Q87.0|OMIM:304120|GARD:0005802|MESH:C538089|ICD9:759.89|DOID:0111784|Orphanet:90652|SCTID:42432003	ordo_clinical_subtype	OPD syndrome 2|FPO|otopalatodigital syndrome, type 2|OPD2|cranioorodigital syndrome|oto-palato-digital syndrome type 2|otopalatodigital syndrome, type II; OPD2|OPD 2 syndrome|OPD II syndrome|Andre syndrome|cranio-oro-digital syndrome|faciopalatoosseous syndrome|otopalatodigital syndrome, type II	http://purl.obolibrary.org/obo/MONDO_0010571	Otopalatodigital syndrome type 2 (OPD2) is a severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.	ORPHA:90652|UMLS:C1844696|http://identifiers.org/omim/304120|DOID:0111784|SNOMEDCT:42432003|MESH:C538089
MONDO:0009593	spondylometaphyseal dysplasia, Sedaghatian type	biolink:Disease	mondo	ICD10:Q77.8|UMLS:C1855229|MESH:C535798|GARD:0004993|Orphanet:93317|OMIM:250220	gard_rare|ordo_malformation_syndrome	Sedaghatian chondrodysplasia|spondylometaphyseal dysplasia, Sedaghatian type|SMDS|spondylometaphyseal dysplasia, Sedaghatian type; SMDS|metaphyseal chondrodysplasia, congenital lethal|lethal metaphyseal dysplasia|spondylometaphyseal dysplasia Sedaghatian type	http://purl.obolibrary.org/obo/MONDO_0009593	Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.	http://identifiers.org/omim/250220|UMLS:C1855229|MESH:C535798|ORPHA:93317
ENVO:01001090	formation of a solid aerosol from gaseous material in an atmosphere	biolink:OntologyClass	mondo			formation of a solid aerosol in the atmosphere|formation of a solid aerosol in an atmosphere|formation of solid particles from gaseous material in an atmosphere|atmospheric formation of a solid aerosol	http://purl.obolibrary.org/obo/ENVO_01001090	A process during which microscopic solid particulates are formed from gaseous materials in an atmosphere.	
GO:0090317	negative regulation of intracellular protein transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0090317	Any process that decreases the frequency, rate or extent of the directed movement of proteins within cells.	
MONDO:0009592	metaphyseal acroscyphodysplasia	biolink:Disease	mondo	GARD:0003519|ICD10:Q78.5|OMIM:250215|MESH:C537350|Orphanet:1240|UMLS:C1855243	gard_rare|ordo_disease	cupped metaphyses and cone-Shaped epiphyses of knees with brachydactyly|intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome|Bellini Chiumello Rimoldi syndrome|Bellini syndrome|metaphyseal acroscyphodysplasia|wedge-shaped epiphyses of the knees with mental retardation and short stature|wedge-shaped epiphyses of knees|wedge-shaped epiphyses of the knees with intellectual disability and short stature|wedge-Shaped epiphyses of knees	http://purl.obolibrary.org/obo/MONDO_0009592	Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases.	http://identifiers.org/omim/250215|MESH:C537350|ORPHA:1240|UMLS:C1855243
MONDO:0010574	syndromic X-linked intellectual disability 5	biolink:Disease	mondo	DOID:0060800|OMIM:304340|GARD:0008520|ICD10:Q87.8|Orphanet:1568|NCIT:C124839|ICD10:Q23.8|SCTID:719139003|UMLS:C0796254	ordo_malformation_syndrome	intellectual disability, X-linked 59|MRXS21|X-linked intellectual disability 59|X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures|mental retardation X-linked with Dandy-Walker malformation basal ganglia disease and seizures|intellectual disability, X-linked, syndromic 21|mental retardation, X-linked 59|intellectual disability, X-linked, syndromic 5|syndromic X-linked intellectual disability type 5|X-linked mental retardation 59|PGS|intellectual disability, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures|mental retardation, X-linked, syndromic 21|intellectual disability, X-linked, syndromic, fried type|intellectual disability X-linked with Dandy-Walker malformation basal ganglia disease and seizures|syndromic X-linked mental retardation 21|syndromic X-linked intellectual disability 21|MRX59|mental retardation X-linked syndromic 5|syndromic X-linked intellectual disability fried type|mental retardation, X-linked, syndromic 5|syndromic X-linked mental retardation fried type|intellectual disability, X-linked syndromic 5|mental retardation, X-linked syndromic 5|fried syndrome|Pettigrew syndrome|mental retardation, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures|PETTIGREW syndrome|mental retardation, X-linked, syndromic, fried type|MRXS5|Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures|X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - seizures|X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome|intellectual disability X-linked syndromic 5|PETTIGREW syndrome; PGS	http://purl.obolibrary.org/obo/MONDO_0010574	X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.	SNOMEDCT:719139003|ORPHA:1568|http://identifiers.org/omim/304340|DOID:0060800|NCIT:C124839|UMLS:C0796254
HGNC:11311	SRY	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11311		
MONDO:0009591	metachromatic leukodystrophy, juvenile form	biolink:Disease	mondo	OMIM:250100|SCTID:238031009|Orphanet:309263|GARD:0004545|GARD:0003230|ICD10:E75.2	gard_rare|ordo_clinical_subtype	ARSA deficiency|metachromatic leukodystrophy, late infantile|arylsulfatase A deficiency|leukodystrophy metachromatic|sulfatide lipidosis|metachromatic leukoencephalopathy|metachromatic leukodystrophy, juvenile|cerebral sclerosis, diffuse, metachromatic form|metachromatic leukodystrophy, adult|cerebroside sulfatase deficiency|metachromatic leukodystrophy|MLD, juvenile form|MLD|cerebral sclerosis diffuse metachromatic form|pseudoarylsulfatase A deficiency|metachromatic leukodystrophy; MLD|Mld|arylsulfatase A deficiency, juvenile form	http://purl.obolibrary.org/obo/MONDO_0009591	Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes.	http://identifiers.org/omim/250100|SNOMEDCT:238031009|UMLS:C0751276|ORPHA:309263
MONDO:0010573	cutis verticis gyrata, thyroid aplasia, and mental retardation	biolink:Disease	mondo	GARD:0000578|UMLS:CN237776|Orphanet:79482|MESH:C535610|OMIM:304200		cutis verticis gyrata, thyroid aplasia, and intellectual disability|cutis verticis gyrata, thyroaplasia and mental deficiency syndrome|cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome|Akesson syndrome|cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome|cutis verticis gyrata-thyroid aplasia-mental retardation syndrome|cutis verticis gyrata, thyroid aplasia, and mental retardation	http://purl.obolibrary.org/obo/MONDO_0010573		http://identifiers.org/omim/304200|UMLS:CN237776|MESH:C535610|ORPHA:79482
MONDO:0010576	X-linked mixed deafness with perilymphatic gusher	biolink:Disease	mondo	Orphanet:383|OMIM:304400|DOID:10003|EFO:1001176|GARD:0004504|GARD:0001694|ICD10:H91.9|ICD9:389.14|UMLS:C1844678|ICD9:389.1|MedDRA:10040016|ICD10:H90.5|ICD9:389.10|ICD10:H90.8	gard_rare|ordo_clinical_subtype	high-frequency hearing loss|perceptive hearing loss or deafness|X-linked mixed conductive and sensorineural deafness|X-linked mixed conductive and neurosensory hearing loss|deafness, X-linked 2|X-linked deafness type 2|DFN3|X-linked mixed conductive and neurosensory deafness|perceptive hearing loss|sensorineural deafness|sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental Abnormality of the Ear|deafness mixed with perilymphatic gusher|DFN 3 nonsyndromic hearing loss and deafness|perceptive deafness|sensorineural hearing loss|deafness, X-linked type 2|central hearing loss|deafness 3, conductive, with stapes fixation|deafness, mixed, with perilymphatic gusher|deafness mixed with perilymphatic gusher, X-linked|DFNX2|deafness 3 conductive with stapes fixation|deafness, conductive, with stapes fixation|high frequency hearing loss|deafness, X-linked 2; DFNX2|deafness conductive with stapes fixation|X-linked stapes gusher syndrome|gusher syndrome|perilymphatic gusher-deafness syndrome|sensory hearing loss|Nance deafness|high frequency deafness|conductive deafness with stapes fixation|X-linked mixed conductive and sensorineural hearing loss	http://purl.obolibrary.org/obo/MONDO_0010576	X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafnesss affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss.	UMLS:C1844678|ORPHA:383|http://identifiers.org/omim/304400|DOID:10003
MONDO:0009590	metachromatic leukodystrophy due to saposin b deficiency	biolink:Disease	mondo	OMIM:249900|SCTID:68390005|GARD:0010674|MESH:C562609|UMLS:C0268262	gard_rare	saposin B deficiency|metachromatic leukodystrophy due to saposin b deficiency|metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency	http://purl.obolibrary.org/obo/MONDO_0009590		SNOMEDCT:68390005|MESH:C562609|http://identifiers.org/omim/249900|UMLS:C0268262
MONDO:0010575	deafness-hypogonadism syndrome	biolink:Disease	mondo	MESH:C564435|OMIM:304350|Orphanet:90646|GARD:0001691	ordo_malformation_syndrome|gard_rare	deafness-hypogonadism syndrome|deafness hypogonadism syndrome|deafness-hypogonadism syndrome; DHS|DHS	http://purl.obolibrary.org/obo/MONDO_0010575	This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behavior.	ORPHA:90646|http://identifiers.org/omim/304350|MESH:C564435
MONDO:0010578	deafness dystonia syndrome	biolink:Disease	mondo	DOID:0050757|ICD10:G31.8|GARD:0008331|UMLS:C0796074|OMIM:304700|MESH:C535808|SCTID:702423009|ICD9:759.89|Orphanet:52368	clingen|ordo_disease	MOHR-Tranebjaerg syndrome; MTS|MTS|deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency|deafness dystonia optic neuronopathy syndrome (DDON)|deafness-dystonia-optic neuronopathy syndrome|DDP|DDON syndrome|Mohr-Tranebjaerg syndrome|deafness dystonia optic neuronopathy syndrome|deafness-dystonia-optic neuronopathy (DDON) syndrome|deafness dystonia optic atrophy syndrome|dystonia-deafness syndrome|dystonia deafness syndrome|deafness - dystonia - optic neuronopathy syndrome|deafness-Dystonia-optic atrophy syndrome|MOHR-Tranebjaerg syndrome	http://purl.obolibrary.org/obo/MONDO_0010578	Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.	DOID:0050757|http://identifiers.org/omim/304700|MESH:C535808|ORPHA:52368|SNOMEDCT:702423009|UMLS:C0796074
MONDO:0010577	deafness, X-linked 1	biolink:Disease	mondo	DOID:0111739|MESH:C564433|OMIM:304500|UMLS:C1844677		deafness, X-linked 2, sensorineural congenital|DFNX1|deafness, X-linked type 1|deafness, X-linked 1; DFNX1|deafness, X-linked 1	http://purl.obolibrary.org/obo/MONDO_0010577		UMLS:C1844677|DOID:0111739|http://identifiers.org/omim/304500|MESH:C564433
MONDO:0010570	craniofrontonasal syndrome	biolink:Disease	mondo	OMIM:304110|SCTID:715421009|DOID:14737|UMLS:C0220767|Orphanet:1520|GARD:0001578|ICD10:Q87.1|MESH:C536456	ordo_malformation_syndrome	craniofrontonasal syndrome|CFNS|craniofrontonasal dysostosis|CFND|craniofrontonasal syndrome; CFNS|craniofrontonasal dysplasia	http://purl.obolibrary.org/obo/MONDO_0010570	Craniofrontonasal dysplasia is an X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism.	ORPHA:1520|MESH:C536456|http://identifiers.org/omim/304110|DOID:14737|SNOMEDCT:715421009|UMLS:C0220767
ENVO:01001048	sediment environment	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001048	An environmental system which has its properties and dynamics determined by sediment.	
ENVO:01001044	soil environment	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001044	An environmental system which has its properties and dynamics determined by soil.	
ENVO:01001040	saline environment	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001040	An environment which is determined by materials which bear significant concentrations of salts.	
GO:0090368	regulation of ornithine metabolic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0090368	Any process that modulates the rate, frequency, or extent of the chemical reactions and pathways involving ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis.	
HGNC:25928	WDR73	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25928		
ENVO:01001069	metallic material	biolink:OntologyClass	mondo			metal	http://purl.obolibrary.org/obo/ENVO_01001069	A material which is composed primarily of one or more pure metals and which shows their properties.	
HGNC:25902	POMGNT2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25902		
HP:0001507	Growth abnormality	biolink:PhenotypicFeature	mondo	UMLS:C0262361		Growth issue|Abnormal growth|Growth abnormality	http://purl.obolibrary.org/obo/HP_0001507		
HP:0001508	Failure to thrive	biolink:PhenotypicFeature	mondo	UMLS:C2315100|SNOMEDCT_US:36440009|SNOMEDCT_US:432788009|UMLS:C0231246		Poor weight gain|Undergrowth|Postnatal failure to thrive|Weight faltering|Faltering weight	http://purl.obolibrary.org/obo/HP_0001508	Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.	
ENVO:01001068	meteoroid	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001068	An astronomical body which is composed of rocky or metallic materials and is considerably smaller than asteroids.	
MONDO:0022598	brachydactyly absence of distal phalanges	biolink:Disease	mondo	GARD:0000961	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022598		
MONDO:0022599	brachydactyly anonychia	biolink:Disease	mondo	GARD:0000962	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022599		
GO:0090358	positive regulation of tryptophan metabolic process	biolink:OntologyClass	mondo			positive regulation of tryptophan metabolism	http://purl.obolibrary.org/obo/GO_0090358	Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving tryptophan, the chiral amino acid 2-amino-3-(1H-indol-3-yl)propanoic acid.	
HP:0001513	Obesity	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:414915002|SNOMEDCT_US:414916001|MSH:D009765|UMLS:C0028754		Obesity|Having too much body fat	http://purl.obolibrary.org/obo/HP_0001513	Accumulation of substantial excess body fat.	
HP:0001510	Growth delay	biolink:PhenotypicFeature	mondo	UMLS:C0878787|SNOMEDCT_US:276617005|UMLS:C0151686|SNOMEDCT_US:444896005|UMLS:C1837385|UMLS:C0456070|UMLS:C3552463|SNOMEDCT_US:59576002		Growth retardation|Growth delay|Retarded growth|Poor growth|Delayed growth|Growth deficiency|Very poor growth|Growth failure	http://purl.obolibrary.org/obo/HP_0001510	A deficiency or slowing down of growth pre- and postnatally.	
ENVO:01001055	environment associated with an animal part or small animal	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001055	An environmental system determined by part of a living or dead animal, or a whole small animal.	
ENVO:01001054	non-saline aerosol environment	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001054	An environmental system which has its properties and dynamics determined by an aerosol with a low concentration of dissolved solutes.	
ENVO:01001057	environment associated with a plant part or small plant	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001057	An environmental system determined by part of a living or dead plant, or a whole small plant.	
GO:0090357	regulation of tryptophan metabolic process	biolink:OntologyClass	mondo			regulation of tryptophan metabolism	http://purl.obolibrary.org/obo/GO_0090357	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving tryptophan, the chiral amino acid 2-amino-3-(1H-indol-3-yl)propanoic acid.	
ENVO:01001053	saline aerosol environment	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001053	An environmental system which has its properties and dynamics determined by a saline aerosol.	
ENVO:01001052	aerosol environment	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001052	An environmental system which has its properties and dynamics determined by an aerosol.	
UBERON:0018146	transverse process of lumbar vertebra	biolink:AnatomicalEntity	mondo			costa lumbalis|lumbar transverse process	http://purl.obolibrary.org/obo/UBERON_0018146	A transverse process that is part of a lumbar vertebra	
UBERON:0018144	cervical rib	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0018144	A rib that is attached to a cervical vertebra.	
UBERON:0018145	lumbar rib	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0018145	A rib that is attached to a lumbar vertebra.	
MONDO:0009529	pyruvate dehydrogenase E3 deficiency	biolink:Disease	mondo	GARD:0003263|UMLS:CN043137|SCTID:29914000|ICD10:E74.4|OMIM:246900|UMLS:C0268193|Orphanet:2394	ordo_clinical_subtype	DLDD|lipoamide dehydrogenase deficiency, lactic acidosis due to|dihydrolipoamide dehydrogenase deficiency|maple syrup urine disease, type III|E3-deficient maple syrup urine disease|DLD deficiency|Dld deficiency|dihydrolipoamide dehydrogenase deficiency; DLDD|maple syrup urine disease, type 3|E3 deficiency|dihydrolipoamide dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0009529	Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.	ORPHA:2394|http://identifiers.org/omim/246900|UMLS:CN043137|SNOMEDCT:29914000|UMLS:C0268193
UBERON:0018142	caudal vertebra endochondral element	biolink:AnatomicalEntity	mondo			coccygeal vertebra element|tail vertebra element|coccyx vertebra element|caudal vertebra element	http://purl.obolibrary.org/obo/UBERON_0018142	Any vertebra endochondral element that is part of the caudal region of the vertebral column (tail or coccyx).	
MONDO:0022500	arthrogryposis multiplex congenita CNS calcification	biolink:Disease	mondo	GARD:0000785	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022500	A syndrome characterized by congenital contractures, scarce facial expressions, central nervous system dysfunction, and early death, as well as extensive deposits of calcium compounds in the nervous system and of skeletal muscle.	
MONDO:0009528	chylomicron retention disease	biolink:Disease	mondo	UMLS:C0795956|ICD10:E78.3|GARD:0009683|SCTID:702364003|DOID:0060357|MESH:C535460|OMIM:246700|Orphanet:71|ICD10:E78.6	ordo_disease|gard_rare	CMRD|hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells|hypobetalipoproteinemia with accumulation of apolipoprotein B-like Protein in intestinal cells|chylomicron retention disease; CMRD|chylomicron retention disease|CRD|Anderson disease|lipid Transport defect of intestine	http://purl.obolibrary.org/obo/MONDO_0009528	Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications.	http://identifiers.org/omim/246700|UMLS:C0795956|MESH:C535460|DOID:0060357|SNOMEDCT:702364003|ORPHA:71
UBERON:0018143	transverse process of cervical vertebra	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0018143	A transverse process that is part of a cervical vertebra	
UBERON:0018140	mammary lobe	biolink:AnatomicalEntity	mondo			lobe of mammary gland|lobus glandulae mammariae|lobi glandulae mammariae|lobe of breast|breast lobe	http://purl.obolibrary.org/obo/UBERON_0018140	A cluster of mammary gland lobules. In humans this is a distinct lobe and located in the breast region.	
MONDO:0009527	lipase deficiency, combined	biolink:Disease	mondo	UMLS:C1855498|Orphanet:535453|OMIM:246650|GARD:0010244|DOID:0111422|MESH:C535904|NCIT:C126558	gard_rare|ordo_etiological_subtype	lipase deficiency combined|combined lipase deficiency|LPL and HTGL deficiency|lipase deficiency, combined|lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency|LPL and HL deficiency	http://purl.obolibrary.org/obo/MONDO_0009527	A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders.	http://identifiers.org/omim/246650|UMLS:C1855498|DOID:0111422|NCIT:C126558|MESH:C535904|ORPHA:535453
MONDO:0009526	fibular aplasia, tibial campomelia, and oligosyndactyly syndrome	biolink:Disease	mondo	GARD:0002622|OMIM:246570|UMLS:CN776928|UMLS:C1855499|Orphanet:480773	ordo_malformation_syndrome	limb deficiency-heart malformation syndrome|FATCO syndrome|fibular aplasia, tibial campomelia, and oligosyndactyly syndrome|terminal transverse defects of the limbs associated with congenital heart malformations|fibular aplasia-tibial campomelia-oligosyndactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0009526		http://identifiers.org/omim/246570|UMLS:C1855499|ORPHA:480773|UMLS:CN776928
MONDO:0009525	split hand-foot malformation 3	biolink:Disease	mondo	MESH:C565437|NCIT:C75121|DOID:0090025|SCTID:722429003|ICD10:Q71.6|Orphanet:1307|OMIM:246560|ICD10:Q92.3|GARD:0003252	gard_rare|ordo_malformation_syndrome	split hand-foot malformation type 3|split-hand/foot malformation type 3|chromosome 10Q24 Duplication syndrome|chromosome 10q24 duplication syndrome|10q24 microduplication syndrome|SHFM3|Buttiens-Fryns syndrome|split-hand/foot malformation 3; SHFM3|distal limb deficiencies with micrognathia|Buttiens Fryns syndrome|distal limb deficiencies-micrognathia syndrome|limb deficiencies, distal, with micrognathia|limb deficiencies distal with micrognathia|split-hand/foot malformation 3|Shsf3	http://purl.obolibrary.org/obo/MONDO_0009525	The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.	http://identifiers.org/omim/246560|ORPHA:1307|NCIT:C75121|MESH:C565437|DOID:0090025|SNOMEDCT:722429003
MONDO:0010514	combined immunodeficiency due to moesin deficiency	biolink:Disease	mondo	OMIM:300988|UMLS:C4310812|Orphanet:504530	ordo_disease	immunodeficiency type 50|MSN-related combined immunodeficiency|immunodeficiency 50, X-linked recessive|immunodeficiency 50|Cid due to Moesin deficiency|IMD50|immunodeficiency 50; IMD50|X-linked Moesin-associated immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0010514		ORPHA:504530|http://identifiers.org/omim/300988|UMLS:C4310812
MONDO:0009524	intellectual disability-spasticity-ectrodactyly syndrome	biolink:Disease	mondo	Orphanet:1891|SCTID:763743003|GARD:0003523|MESH:C537446|OMIM:246555|UMLS:C0796001	ordo_malformation_syndrome|gard_rare	limb defects, distal transverse, with intellectual disability and spasticity|mental retardation, spasticity and transverse limb defects|mental retardation spasticity ectrodactyly|ectrodactyly, spastic paraplegia and intellectual disability|limb defects, distal transverse, with mental retardation and spasticity|intellectual disability spasticity ectrodactyly|Jancar syndrome|ectrodactyly, spastic paraplegia and mental retardation|intellectual disability, spasticity and transverse limb defects	http://purl.obolibrary.org/obo/MONDO_0009524	Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).	http://identifiers.org/omim/246555|MESH:C537446|ORPHA:1891|SNOMEDCT:763743003|UMLS:C0796001
MONDO:0010513	obsolete intellectual disability, X-linked, syndromic, Borck type	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0010513		
MONDO:0009523	Lichtenstein syndrome	biolink:Disease	mondo	OMIM:246550|SCTID:763668009|Orphanet:2390|GARD:0003248|MESH:C535894|UMLS:C1855502	gard_rare|ordo_disease	Lichtenstein syndrome|neutropenia immunoglobulin deficiency peculiar facies and bony anomalies	http://purl.obolibrary.org/obo/MONDO_0009523	Lichstenstein syndrome is characterised by frequent infections associated with osteoporosis, a tendency for fractures and osseous anomalies. It has been described in two monozygotic twin brothers. Transmission is autosomal recessive.	http://identifiers.org/omim/246550|ORPHA:2390|SNOMEDCT:763668009|UMLS:C1855502|MESH:C535894
MONDO:0010516	midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	biolink:Disease	mondo	OMIM:300990|UMLS:C4310810		midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis; MFHIEN|MFHIEN|midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	http://purl.obolibrary.org/obo/MONDO_0010516		http://identifiers.org/omim/300990|UMLS:C4310810
MONDO:0010515	Meester-Loeys syndrome	biolink:Disease	mondo	OMIM:300989|UMLS:C4310811		MRLS|MRLS|Meester-Loeys syndrome|Meester-Loeys syndrome; MRLS	http://purl.obolibrary.org/obo/MONDO_0010515		http://identifiers.org/omim/300989|UMLS:C4310811
MONDO:0009522	Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome	biolink:Disease	mondo	Orphanet:1816|SCTID:239032007|MESH:C565440|UMLS:C1855504|ICD10:Q82.4|OMIM:246500|UMLS:C0406729	ordo_malformation_syndrome	ectodermal dysplasia, Berlin type|Berlin syndrome|LEUKOMELANODERMA, infantilism, mental retardation, hypodontia, hypotrichosis|LEUKOMELANODERMA, infantilism, intellectual disability, hypodontia, hypotrichosis	http://purl.obolibrary.org/obo/MONDO_0009522	Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is a rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961.	SNOMEDCT:239032007|UMLS:C0406729|ORPHA:1816|MESH:C565440|UMLS:C1855504|http://identifiers.org/omim/246500
MONDO:0010518	Wiskott-Aldrich syndrome	biolink:Disease	mondo	Orphanet:906|MedDRA:10047992|COHD:440982|OMIM:301000|ICD10:D82.0|ICD9:279.12|DOID:9169|GARD:0007895|MESH:D014923|NCIT:C3448|SCTID:36070007|UMLS:C0043194	ordo_disease|gard_rare	Wiskott syndrome|immunodeficiency 2|Imd 2|Wiskott-Aldrich syndrome 1|Wiskott-Aldrich syndrome|Wiskott-Aldrich syndrome; was|was|eczema-thrombocytopenia-immunodeficiency syndrome|Wiskott Aldrich syndrome|Aldrich syndrome|eczema thrombocytopenia immunodeficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0010518	Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies.	MESH:D014923|MEDDRA:10047992|ORPHA:906|DOID:9169|SNOMEDCT:36070007|http://identifiers.org/omim/301000|NCIT:C3448|UMLS:C0043194
MONDO:0009521	leukemia, acute myelocytic, with polyposis coli and colon cancer	biolink:Disease	mondo	UMLS:C1855505|MESH:C565441|OMIM:246470		leukemia, acute myelocytic, with polyposis coli and colon cancer	http://purl.obolibrary.org/obo/MONDO_0009521		MESH:C565441|UMLS:C1855505|http://identifiers.org/omim/246470
MONDO:0010517	ciliary dyskinesia, primary, 36, X-linked	biolink:Disease	mondo	OMIM:300991|UMLS:C4478372|UMLS:CN240511		ciliary dyskinesia, primary, 36, X-linked|ciliary dyskinesia, primary, 36, with or without situs inversus|PIH1D3 primary ciliary dyskinesia|primary ciliary dyskinesia caused by mutation in PIH1D3|CILD36|ciliary dyskinesia, primary, 36, X-linked; CILD36	http://purl.obolibrary.org/obo/MONDO_0010517	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the PIH1D3 gene.	UMLS:C4478372|UMLS:CN240511|http://identifiers.org/omim/300991
MONDO:0009520	3-hydroxy-3-methylglutaric aciduria	biolink:Disease	mondo	SCTID:410059004|OMIM:246450|GARD:0008387|UMLS:C0268601|MESH:C538324|NCIT:C84523|ICD10:E71.1|Orphanet:20|UMLS:C1533587	ordo_disease	Hydroxymethylglutaric aciduria|HL deficiency|3-hydroxy-3-methylglutaryl-CoA lyase deficiency|HMG CoA lyase deficiency|HMGCLD|defect in leucine metabolism|3-hydroxy-3-methylglutaryl-CoA lyase deficiency; HMGCLD|HMG-CoA lyase deficiency|3-OH 3-Methyl glutaric aciduria|Hmgcl deficiency|deficiency of hydroxymethylglutaryl-CoA lyase|hydroxymethylglutaryl-CoA lyase deficiency|HMG-Coa lyase deficiency	http://purl.obolibrary.org/obo/MONDO_0009520	3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae.	ORPHA:20|NCIT:C84523|SNOMEDCT:410059004|UMLS:C1533587|UMLS:C0268601|MESH:C538324|http://identifiers.org/omim/246450
MONDO:0010519	alpha thalassemia-X-linked intellectual disability syndrome	biolink:Disease	mondo	Orphanet:847|NCIT:C118631|SCTID:715342005|GARD:0005864|MESH:C538258|UMLS:C1845055|DOID:0110030|OMIM:301040|ICD10:D56.0	ordo_disease|do_inheritance_inconsistent|gard_rare	ALPHA-thalassemia/mental retardation syndrome, X-linked; ATRX|Alpha-thalassemia/intellectual disability syndrome, Nondeletion type|ALPHA-thalassemia/mental retardation syndrome, X-linked|ATR, Nondeletion type|ALPHA-thalassemia/intellectual disability syndrome, X-linked; ATRX|ATR-X syndrome|alpha-thalassemia/mental retardation syndrome nondeletion type|ATR, nondeletion type|Alpha thalassemia/mental retardation syndrome X-linked|ATRX|ALPHA-thalassemia/intellectual disability syndrome, X-linked|Alpha thalassemia/intellectual disability syndrome X-linked|alpha-thalassemia/intellectual disability syndrome nondeletion type|Alpha thalassemia X-linked mental retardation syndrome|Alpha thalassemia mental retardation syndrome, nondeletion type, X-linked|XLMR hypotonic face syndrome|Alpha-thalassemia x-linked intellectual disability syndrome|Alpha thalassemia intellectual disability syndrome, nondeletion type, X-linked|Alpha thalassemia X-linked intellectual disability syndrome|Alpha-thalassemia/mental retardation syndrome, Nondeletion type|ATRX syndrome|Alpha-thalassemia-X-linked intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0010519	X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.	DOID:0110030|ORPHA:847|http://identifiers.org/omim/301040|SNOMEDCT:715342005|UMLS:C1845055|MESH:C538258|NCIT:C118631
UBERON:0018149	angle of oral opening	biolink:AnatomicalEntity	mondo			angle of mouth|mouth angle	http://purl.obolibrary.org/obo/UBERON_0018149		
HGNC:2032	CLDN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2032		
NCBITaxon:53549	Sabethini	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_53549		
HGNC:13902	SERPINB7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13902		
MONDO:0010521	amelogenesis imperfecta type 1E	biolink:Disease	mondo	GARD:0009943|OMIM:301200|DOID:0110058|ICD10:K00.5	gard_rare	AIH1|amelogenesis imperfecta, type IE; AI1E|amelogenesis imperfecta caused by mutation in AMELX|amelogenesis imperfecta, X-linked 1|X-linked enamel hypoplasia|AI1E|amelogenesis imperfecta, type IE|enamel hypoplasia, X-linked|amelogenesis imperfecta, hypomaturation type, with Snow-capped teeth|amelogenesis imperfecta hypomaturationtype with snow-capped teeth|amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 1|amelogenesis imperfecta, type 1E|X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1|amelogenesis imperfecta type IE|amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1|enamel hypoplasia X-linked|amelogenesis imperfecta X-linked 1|X-linked amelogenesis imperfecta 1|AMELX amelogenesis imperfecta	http://purl.obolibrary.org/obo/MONDO_0010521	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMELX gene.	http://identifiers.org/omim/301200|DOID:0110058
MONDO:0010520	X-linked Alport syndrome	biolink:Disease	mondo	GARD:0005785|DOID:0110034|SCTID:717768004|OMIM:301050|MedDRA:10001843|ICD10:Q87.8|Orphanet:88917	ordo_etiological_subtype	hemorrhagic familial nephritis|congenital hereditary hematuria|Alport syndrome, X-linked|nephropathy and deafness, X-linked|hemorrhagic hereditary nephritis|ATS|Alport syndrome, X-linked; ATS|nephropathy and deafness, X-linked	http://purl.obolibrary.org/obo/MONDO_0010520	X-linked form of Alport syndrome.	http://identifiers.org/omim/301050|MEDDRA:10001843|ORPHA:88917|SNOMEDCT:717768004|UMLS:C1567742|DOID:0110034
CL:0008007	visceral muscle cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0008007	A muscle cell that is part of some visceral muscle	
MONDO:0010523	X-linked reticulate pigmentary disorder	biolink:Disease	mondo	MESH:C564461|SCTID:717224002|Orphanet:85453|ICD10:L99.0*|OMIM:301220|ICD10:E85.0+	ordo_disease	pigmentary disorder, reticulate, with systemic manifestations; PDR|amyloidosis, familial cutaneous|PDR|pigmentary disorder, reticulate, with systemic manifestations|pigmentary disorder, reticulate, with systemic manifestations, X-linked; PDR|XLPDR|PDR|pigmentary disorder, reticulate, with systemic manifestations, X-linked|Partington disease|familial cutaneous amyloidosis|X-linked cutaneous amyloidosis	http://purl.obolibrary.org/obo/MONDO_0010523	X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.	MESH:C564461|SNOMEDCT:717224002|http://identifiers.org/omim/301220|ORPHA:85453
MONDO:0010522	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2	biolink:Disease	mondo	GARD:0009944|DOID:0110059|UMLS:C1845051|ICD10:K00.5|OMIM:301201		amelogenesis imperfecta 3, hypoplastic type|AIH3 (formerly)|amelogenesis imperfecta 3 hypoplastic type|X-linked enamel hypoplasia|amelogenesis imperfecta type IE X-linked 2|enamel hypoplasia, X-linked|amelogenesis imperfecta 3, hypoplastic type (formerly)|amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2|amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked type 2|X-linked amelogenesis imperfecta hypoplastic/hypomaturation type 2|amelogenesis imperfecta 3, hypoplastic type, formerly|AIH3	http://purl.obolibrary.org/obo/MONDO_0010522	An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region.	http://identifiers.org/omim/301201|UMLS:C1845051|DOID:0110059
HGNC:2037	CLDN16	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2037		
HGNC:4699	GYG1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4699		
HGNC:2035	CLDN14	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2035		
HGNC:4696	GUSB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4696		
CL:0008000	non-striated muscle cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0008000	Any muscle cell in which the fibers are not organised into sarcomeres.	
HGNC:2033	CLDN10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2033		
CL:0008001	hematopoietic precursor cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0008001	Any hematopoietic cell that is a precursor of some other hematopoietic cell type.	
UBERON:0018135	fibrocollagenous connective tissue	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0018135		
UBERON:0018132	tail fat pad	biolink:AnatomicalEntity	mondo			tail fat depot	http://purl.obolibrary.org/obo/UBERON_0018132	Encapsulated adipose tissue that is part of a tail.	
MONDO:0009539	lymphoblastic leukemia, acute, with lymphomatous features	biolink:Disease	mondo	UMLS:C1855472|OMIM:247640|MESH:C565429		lymphoblastic leukemia, acute, with lymphomatous features; lall|lymphomatous All|lall|lymphoblastic leukemia, acute, with lymphomatous features	http://purl.obolibrary.org/obo/MONDO_0009539		MESH:C565429|UMLS:C1855472|http://identifiers.org/omim/247640
MONDO:0009538	lymphoid system deterioration, progressive	biolink:Disease	mondo	OMIM:247630|UMLS:C1855473|MESH:C565430		lymphoid system deterioration, progressive	http://purl.obolibrary.org/obo/MONDO_0009538		MESH:C565430|UMLS:C1855473|http://identifiers.org/omim/247630
MONDO:0009537	lymphoid interstitial pneumonia	biolink:Disease	mondo	Orphanet:79128|ICD9:516.8|ICD10:J84.2|DOID:0050159|SCTID:44274007|UMLS:C0264511|MedDRA:10062997|OMIM:247610|ICD10:J84.1|MESH:C562489|NCIT:C27558	ordo_disease	lymphoid interstitial pneumonia; LIP|lymphocytic interstitial pneumonia|diffuse hyperplasia of bronchus-associated lymphoid tissue|LIP|lymphocytic interst. pneumonitis|lymphocytic interstitial pneumonitis|lymphoid interstitial pneumonia	http://purl.obolibrary.org/obo/MONDO_0009537	Interstitial pneumonia characterized by the presence of bibasilar pulmonary interstitial infiltrates composed of lymphocytes and plasma cells. It may be associated with autoimmune and lymphoproliferative disorders. Signs and symptoms include fever, cough, and dyspnea. Symptomatic patients may require immunosuppressive treatment.	SNOMEDCT:44274007|DOID:0050159|UMLS:C0264511|ORPHA:79128|NCIT:C27558|MEDDRA:10062997|MESH:C562489|http://identifiers.org/omim/247610
MONDO:0010503	Bartter disease type 5	biolink:Disease	mondo	DOID:0110147|UMLS:C4310820|ICD10:E26.8|OMIM:300971		Bartter syndrome, type 5, antenatal, transient; BARTS5|MAGED2 Bartter syndrome|Bartter syndrome caused by mutation in MAGED2|Bartter syndrome, type 5, antenatal, transient|BARTS5	http://purl.obolibrary.org/obo/MONDO_0010503	Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene.	DOID:0110147|http://identifiers.org/omim/300971|UMLS:C4310820
MONDO:0009536	chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation	biolink:Disease	mondo	MESH:C565431|OMIM:247450|UMLS:C1855474		lymphoblastic transformation, intrinsic defect IN|lymphoblastic transformation, intrinsic defect type 1N	http://purl.obolibrary.org/obo/MONDO_0009536		UMLS:C1855474|MESH:C565431|http://identifiers.org/omim/247450
MONDO:0010502	intellectual disability, X-linked 99, syndromic, female-restricted	biolink:Disease	mondo	OMIM:300968		intellectual disability, X-linked 99, syndromic, female-restricted; MRXS99F|intellectual disability, X-linked 99, syndromic, female-restricted; MRXS99F|mental retardation, X-linked 99, syndromic, female-restricted|mental retardation, X-linked 99, syndromic, female-restricted; MRXS99F|MRXS99F|USP9X X-linked syndromic intellectual disability|intellectual disability, X-linked 99, syndromic, female-restricted|X-linked syndromic intellectual disability caused by mutation in USP9X	http://purl.obolibrary.org/obo/MONDO_0010502	Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the USP9X gene.	http://identifiers.org/omim/300968
MONDO:0009535	lymphedema, congenital recessive	biolink:Disease	mondo	MESH:C565432|OMIM:247440|UMLS:C1855475		lymphedema, congenital recessive	http://purl.obolibrary.org/obo/MONDO_0009535		MESH:C565432|UMLS:C1855475|http://identifiers.org/omim/247440
MONDO:0009534	chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation	biolink:Disease	mondo	MESH:C565433|OMIM:247430		lymphoblastic transformation, inhibition of	http://purl.obolibrary.org/obo/MONDO_0009534		MESH:C565433|http://identifiers.org/omim/247430
MONDO:0010505	intellectual disability-balding-patella luxation-acromicria syndrome	biolink:Disease	mondo	GARD:0000257|UMLS:C1866985|OMIM:300977|Orphanet:3041|SCTID:722002002|ICD10:Q87.8|OMIM:181515|MESH:C536638	ordo_malformation_syndrome	Scholte syndrome|SHLTS|Scholte-Begeer-van Essen syndrome|early balding, patella luxation, acromicria and hypogonadism|early balding, patella luxation, acromicria, and hypogonadism|SCHOLTE syndrome; SHLTS	http://purl.obolibrary.org/obo/MONDO_0010505	Intellectual disability-balding-patella luxation-acromicria syndrome is characterised by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males.	MESH:C536638|SNOMEDCT:722002002|http://identifiers.org/omim/181515|UMLS:C1866985|ORPHA:3041|http://identifiers.org/omim/300977
MONDO:0009533	Dahlberg-Borer-Newcomer syndrome	biolink:Disease	mondo	GARD:0000237|SCTID:721083007|ICD10:Q87.8|MESH:C535769|Orphanet:1563|OMIM:247410|UMLS:C1855477	gard_rare|ordo_malformation_syndrome	lymphedema hypoparathyroidism syndrome|hypoparathyroidism-lymphedema syndrome|lymphedema-hypoparathyroidism syndrome|hypoparathyroidism lymphedema syndrome|lymphedema-hypoparathyroidism syndrome|Dahlberg syndrome|Dahlberg Borer Newcomer syndrome	http://purl.obolibrary.org/obo/MONDO_0009533	Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities.	ORPHA:1563|UMLS:C1855477|MESH:C535769|SNOMEDCT:721083007|http://identifiers.org/omim/247410
MONDO:0010504	immunodeficiency 47	biolink:Disease	mondo	UMLS:C4310819|OMIM:300972		primary immunodeficiency disease caused by mutation in ATP6AP1|immunodeficiency type 47|immunodeficiency 47; IMD47|IMD47|immunodeficiency and hepatopathy with or without neurologic features|immunodeficiency 47|ATP6AP1 primary immunodeficiency disease	http://purl.obolibrary.org/obo/MONDO_0010504	Any primary immunodeficiency disease in which the cause of the disease is a mutation in the ATP6AP1 gene.	http://identifiers.org/omim/300972|UMLS:C4310819
MONDO:0009532	Miller-Dieker lissencephaly syndrome	biolink:Disease	mondo	SCTID:253148005|MedDRA:10068361|GARD:0003669|ICD9:758.33|OMIM:247200|NCIT:C124852|UMLS:C0265219|DOID:0060469|ICD10:Q04.3|Orphanet:531	ordo_malformation_syndrome	monosomy 17p13.3|Miller-Dieker syndrome|Miller-Dieker lissencephaly syndrome|telomeric deletion 17p|Miller-Dieker syndrome chromosome region|lissencephaly due to 17p13.3 deletion|MDS|chromosome 17P13.3 deletion syndrome|MDLS|Miller-Dieker lissencephaly syndrome; MDLS	http://purl.obolibrary.org/obo/MONDO_0009532	A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip.	MESH:D054221|UMLS:C0265219|SNOMEDCT:253148005|ORPHA:531|DOID:0060469|MEDDRA:10068361|http://identifiers.org/omim/247200|NCIT:C124852
MONDO:0010507	Xq25 microduplication syndrome	biolink:Disease	mondo	UMLS:C4311049|Orphanet:521258|OMIM:300979	ordo_malformation_syndrome	Xq25 triplication syndrome	http://purl.obolibrary.org/obo/MONDO_0010507		UMLS:C4311049|ORPHA:521258|http://identifiers.org/omim/300979
MONDO:0009531	obsolete lip prints	biolink:Disease	mondo	OMIM:247150		lip prints	http://purl.obolibrary.org/obo/MONDO_0009531		http://identifiers.org/omim/247150
MONDO:0010506	intellectual disability, X-linked 61	biolink:Disease	mondo	OMIM:300978|UMLS:C4283894		intellectual disability, X-linked 61|mental retardation, X-linked type 61|MRX61|intellectual disability, X-linked 61; MRX61|RLIM non-syndromic X-linked intellectual disability|non-syndromic X-linked intellectual disability caused by mutation in RLIM|mental retardation, X-linked 61|intellectual disability, X-linked type 61|mental retardation, X-linked 61; MRX61|intellectual disability, X-linked 61; MRX61	http://purl.obolibrary.org/obo/MONDO_0010506	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RLIM gene.	UMLS:C4283894|http://identifiers.org/omim/300978
MONDO:0010509	intellectual disability, X-linked 104	biolink:Disease	mondo	OMIM:300983|UMLS:C4310817		intellectual disability, X-linked 104; MRX104|intellectual disability, X-linked type 104|intellectual disability, X-linked 104; MRX104|intellectual disability, X-linked 104|non-syndromic X-linked intellectual disability caused by mutation in FRMPD4|mental retardation, X-linked 104; MRX104|mental retardation, X-linked type 104|mental retardation, X-linked 104|FRMPD4 non-syndromic X-linked intellectual disability|MRX104	http://purl.obolibrary.org/obo/MONDO_0010509	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FRMPD4 gene.	http://identifiers.org/omim/300983|UMLS:C4310817
MONDO:0009530	lipoid proteinosis	biolink:Disease	mondo	ICD10:E78.8|NCIT:C84829|UMLS:C0023795|OMIM:247100|GARD:0003268|SCTID:38692000|ICD9:272.8|DOID:14498|Orphanet:530|MESH:D008065	ordo_malformation_syndrome	hyalinosis cutis Et mucosae|lipoid proteinosis of Urbach and Wiethe|lipoproteinosis|lipoid proteinosis|hyalinosis cutis et mucosae|Urbach-Wiethe disease|lipid proteinosis|Urbach Wiethe disease	http://purl.obolibrary.org/obo/MONDO_0009530	Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.	ORPHA:530|DOID:14498|SNOMEDCT:38692000|UMLS:C0023795|http://identifiers.org/omim/247100|NCIT:C84829|MESH:D008065
MONDO:0010508	intellectual disability, X-linked 103	biolink:Disease	mondo	OMIM:300982|UMLS:C4310818		KLHL15 non-syndromic X-linked intellectual disability|intellectual disability, X-linked type 103|intellectual disability, X-linked 103; MRX103|intellectual disability, X-linked 103; MRX103|intellectual disability, X-linked 103|mental retardation, X-linked 103; MRX103|mental retardation, X-linked type 103|mental retardation, X-linked 103|non-syndromic X-linked intellectual disability caused by mutation in KLHL15|MRX103	http://purl.obolibrary.org/obo/MONDO_0010508	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KLHL15 gene.	UMLS:C4310818|http://identifiers.org/omim/300982
HGNC:2040	CLDN19	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2040		
MONDO:0010510	intellectual disability, X-linked 105	biolink:Disease	mondo	UMLS:C4310816|OMIM:300984		non-syndromic X-linked intellectual disability caused by mutation in USP27X|mental retardation, X-linked type 105|intellectual disability, X-linked 105|mental retardation, X-linked 105|intellectual disability, X-linked 105; MRX105|USP27X non-syndromic X-linked intellectual disability|MRX105|intellectual disability, X-linked 105; MRX105|mental retardation, X-linked 105; MRX105|intellectual disability, X-linked type 105	http://purl.obolibrary.org/obo/MONDO_0010510	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP27X gene.	http://identifiers.org/omim/300984|UMLS:C4310816
CL:0008019	mesenchymal cell	biolink:Cell	mondo			mesenchyme cell	http://purl.obolibrary.org/obo/CL_0008019	A non-polarised cell precursor cell that is part of some mesenchyme, is associated with the cell matrix but is not connected to other cells and is capable of migration.	
MONDO:0010512	intellectual disability, X-linked, syndromic, bain type	biolink:Disease	mondo	UMLS:C4310814|OMIM:300986		intellectual disability, X-linked, syndromic, bain type|mental retardation, X-linked, syndromic, bain type; MRXSB|intellectual disability, X-linked, syndromic, bain type; MRXSB|intellectual disability, X-linked, syndromic, bain type; MRXSB|MRXSB|mental retardation, X-linked, syndromic, bain type	http://purl.obolibrary.org/obo/MONDO_0010512		http://identifiers.org/omim/300986|UMLS:C4310814
MONDO:0010511	vas deferens, congenital bilateral aplasia of, X-linked	biolink:Disease	mondo	UMLS:C4310815|OMIM:300985		CBAVDX|vas deferens, congenital bilateral aplasia of, X-linked; CBAVDX|vas deferens, congenital bilateral aplasia of, X-linked	http://purl.obolibrary.org/obo/MONDO_0010511		http://identifiers.org/omim/300985|UMLS:C4310815
NCBITaxon:53551	Sabethes	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_53551		
NCBITaxon:53550	Culicini	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_53550		
MONDO:0009509	Landau-Kleffner syndrome	biolink:Disease	mondo	DOID:2538|SCTID:230438007|UMLS:C0282512|Orphanet:98818|MedDRA:10052075|OMIM:245570|ICD10:G40.8|NCIT:C84806|MedDRA:10052083|GARD:0006855|MESH:D018887|EFO:1001010	gard_rare|ordo_disease	Rolandic epilepsy, intellectual disability, and speech dyspraxia, autosomal dominant|aphasia, acquired, with epilepsy|epilepsy, focal, with speech disorder and with or without mental retardation; FESD|epilepsy, focal, with speech disorder and with or without intellectual disability|continuous Spike and waves during slow-Wave sleep syndrome|FESD|benign epilepsy of childhood with centrotemporal spikes|epilepsy, focal, with speech disorder and with or without intellectual disability; FESD|acquired epileptic aphasia|acquired epileptiform aphasia|epilepsy, focal, with speech disorder and with or without mental retardation|acquired aphasia with convulsive disorder|Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant|LKS|Landau-Kleffner syndrome	http://purl.obolibrary.org/obo/MONDO_0009509	Landau-Kleffner syndrome (LKS) is a rare neurological syndrome characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and recurrent seizures (epilepsy). Children with LKS typically develop normally until signs and symptoms of the syndrome begin to develop between age 2 and 8 years. Males are more often affected by LKS than females. In about 20% of people with LKS, mutations (changes) in the GRIN2A gene have been identified. The syndrome is inherited in an autosomal dominant manner. In other cases, the syndrome may be caused by changes to other unidentified genes. LKS is diagnosed when a doctor sees clinical features that are consistent with the syndrome such as a loss of speech and an electroencephalogram (EEG) that shows specific kinds of seizure activity. Genetic testing can be used to confirm if there is a mutation in GRIN2A, but this testing is not done routinely. Treatment for LKS usually consists of medications such as anticonvulsants and corticosteroids to help prevent seizures. Speech therapy should also be started promptly in order to ensure the best long-term outlook for children with LKS.	MESH:D018887|NCIT:C84806|MEDDRA:10052075|http://identifiers.org/omim/245570|UMLS:C0282512|ORPHA:98818|SNOMEDCT:230438007|DOID:2538
NCBITaxon:186938	Respirovirus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_186938		
MONDO:0009508	Lambotte syndrome	biolink:Disease	mondo	OMIM:245552|MESH:C537549|GARD:0008470|UMLS:C1855550		microcephaly, holoprosencephaly, and intrauterine Growth retardation|Lambotte syndrome	http://purl.obolibrary.org/obo/MONDO_0009508		http://identifiers.org/omim/245552|MESH:C537549|UMLS:C1855550
MONDO:0009507	Lambert syndrome	biolink:Disease	mondo	Orphanet:1296|OMIM:245550|SCTID:732961003|UMLS:C1855551|ICD10:Q87.8|GARD:0003169|MESH:C538396	gard_rare|ordo_malformation_syndrome	branchial dysplasia, clubfoot, inguinal hernia, and biliary atresia|branchial dysplasia clubfoot inguinal hernia and biliary atresia|Lambert syndrome|branchial dysplasia-intellectual disability-inguinal hernia syndrome	http://purl.obolibrary.org/obo/MONDO_0009507	Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit.	MESH:C538396|ORPHA:1296|SNOMEDCT:732961003|http://identifiers.org/omim/245550|UMLS:C1855551
UBERON:0018120	right renal medulla interstitium	biolink:AnatomicalEntity	mondo			medullary interstitial tissue of right kidney	http://purl.obolibrary.org/obo/UBERON_0018120	A renal medulla interstitium that is part of a right kidney.	
MONDO:0009506	specific granule deficiency	biolink:Disease	mondo	ICD10:D71|OMIMPS:245480|Orphanet:169142|MESH:C562873|GARD:0010778|SCTID:234587000|UMLS:C0398593	ordo_disease	neutrophil-specific granule deficiency|specific granule deficiency; SGD|SGD|recurrent infection due to specific granule deficiency|lactoferrin-deficient neutrophils|specific granule deficiency|neutrophil lactoferrin deficiency	http://purl.obolibrary.org/obo/MONDO_0009506		MESH:C562873|UMLS:C0398593|ORPHA:169142|SNOMEDCT:234587000
MONDO:0009505	lactic aciduria due to D-lactic acid	biolink:Disease	mondo	UMLS:C1855552|MESH:C565446|OMIM:245450		lactic aciduria due to d-lactic acid	http://purl.obolibrary.org/obo/MONDO_0009505		http://identifiers.org/omim/245450|MESH:C565446|UMLS:C1855552
MONDO:0009504	mitochondrial DNA depletion syndrome 9	biolink:Disease	mondo	MESH:C538134|GARD:0003163|DOID:0080128|ICD10:E71.1|MESH:C566885|OMIM:245400|Orphanet:17|SCTID:715338007	gard_rare|ordo_disease	mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)|lactic acidosis, fatal infantile, formerly|lactic acidosis, fatal infantile|lactic acidosis congenital infantile|succinate-CoA ligase deficiency|MTDPS9|mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria); MTDPS9|mitochondrial DNA depletion syndrome type 9|SUCLG1 mitochondrial DNA depletion syndrome|mitochondrial DNA depletion syndrome caused by mutation in SUCLG1|fatal infantile lactic acidosis with methylmalonic aciduria	http://purl.obolibrary.org/obo/MONDO_0009504	Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.	MESH:C538134|DOID:0080128|http://identifiers.org/omim/245400|MESH:C566885|SNOMEDCT:715338007|ORPHA:17
MONDO:0009503	pyruvate dehydrogenase E3-binding protein deficiency	biolink:Disease	mondo	ICD10:E74.4|UMLS:C1855553|OMIM:245349|Orphanet:255182	ordo_clinical_subtype	dihydrolipoyl dehydrogenase deficiency|diaphorase deficiency|pyruvate dehydrogenase E3-binding PROTEIN deficiency; PDHXD|Glycine cleavage system L protein deficiency|PDHXD|branched chain alpha-ketoacid dehydrogenase complex deficiency|pyruvate dehydrogenase protein X component deficiency|2-oxoglutarate complex deficiency|lipoamide dehydrogenase deficiency|lactic acidemia due to defect in lipoyl-containing component 10 of the pyruvate dehydrogenase Complex|pyruvate dehydrogenase E3-binding protein deficiency|pyruvate dehydrogenase complex component E3 deficiency	http://purl.obolibrary.org/obo/MONDO_0009503	Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction.	ORPHA:255182|http://identifiers.org/omim/245349|UMLS:C1855553
MONDO:0009502	pyruvate dehydrogenase E2 deficiency	biolink:Disease	mondo	MESH:C565448|ICD10:E74.4|UMLS:C1855565|Orphanet:79244|OMIM:245348	ordo_clinical_subtype	pyruvate dehydrogenase E2 deficiency|dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency|PDHDD|pyruvate dehydrogenase E2 deficiency; PDHDD|pyruvate dehydrogenase complex component E2 deficiency|dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency|lactic acidemia due to defect of E2 lipoyl transacetylase of the pyruvate dehydrogenase Complex	http://purl.obolibrary.org/obo/MONDO_0009502	Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.	http://identifiers.org/omim/245348|MESH:C565448|UMLS:C1855565|ORPHA:79244
MONDO:0009501	metabolic myopathy due to lactate transporter defect	biolink:Disease	mondo	MESH:C565449|OMIM:245340|ICD10:G72.8|UMLS:C1855577|SCTID:766715000|Orphanet:171690	ordo_disease	erythrocyte lactate transporter defect|lactate transporter defect, myopathy due to	http://purl.obolibrary.org/obo/MONDO_0009501	Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.	ORPHA:171690|http://identifiers.org/omim/245340|MESH:C565449|UMLS:C1855577|SNOMEDCT:766715000
MONDO:0009500	kuru, susceptibility to	biolink:Disease	mondo	UMLS:C1855588|OMIM:245300	predisposition	susceptibility to kuru|kuru, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0009500		http://identifiers.org/omim/245300|UMLS:C1855588
NCBITaxon:28568	Trichocomaceae	organism taxon	mondo	GC_ID:1		Eurotiaceae	http://purl.obolibrary.org/obo/NCBITaxon_28568		
MONDO:0010501	syndromic X-linked intellectual disability 34	biolink:Disease	mondo	DOID:0060817|Orphanet:466791|OMIM:300967	ordo_malformation_syndrome	mental retardation, X-linked, syndromic, Mircsof-Langouet type|mental retardation, X-linked, syndromic 34|intellectual disability, X-linked, syndromic type 34|macrocephaly-intellectual disability-left ventricular non compaction syndrome|intellectual disability, X-linked, syndromic 34; MRXS34|MRXSML|MRXS34|intellectual disability, X-linked, syndromic, Mircsof-Langouet type|syndromic X-linked intellectual disability Mircsof-Langouet type|syndromic X-linked intellectual disability type 34|NONO X-linked syndromic intellectual disability|mental retardation, X-linked, syndromic 34; MRXS34|intellectual disability, X-linked, syndromic 34|X-linked syndromic intellectual disability caused by mutation in NONO|mental retardation, X-linked, syndromic type 34|syndromic X-linked mental retardation Mircsof-Langouet type	http://purl.obolibrary.org/obo/MONDO_0010501	Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.	DOID:0060817|http://identifiers.org/omim/300967|ORPHA:466791
MONDO:0010500	intellectual disability, X-linked, syndromic 33	biolink:Disease	mondo	OMIM:300966|UMLS:C4225418		mental retardation, X-linked, syndromic 33|mental retardation, X-linked, syndromic 33; MRXS33|TAF1 X-linked syndromic intellectual disability|intellectual disability, X-linked, syndromic type 33|intellectual disability, X-linked, syndromic 33|intellectual disability, X-linked, syndromic 33; MRXS33|X-linked syndromic intellectual disability caused by mutation in TAF1|MRXS33|mental retardation, X-linked, syndromic type 33	http://purl.obolibrary.org/obo/MONDO_0010500	Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the TAF1 gene.	UMLS:C4225418|http://identifiers.org/omim/300966
CHEBI:5386	globin	biolink:ChemicalSubstance	mondo			globins|Globin|pentacoordinate globin	http://purl.obolibrary.org/obo/CHEBI_5386		
UBERON:0018113	left kidney interstitium	biolink:AnatomicalEntity	mondo			stroma of left kidney|left renal stroma	http://purl.obolibrary.org/obo/UBERON_0018113	A kidney interstitium that is part of a left kidney.	
UBERON:0018114	right kidney interstitium	biolink:AnatomicalEntity	mondo			right renal stroma|stroma of right kidney	http://purl.obolibrary.org/obo/UBERON_0018114	A kidney interstitium that is part of a right kidney.	
UBERON:0018111	muscle layer of rectum	biolink:AnatomicalEntity	mondo			rectal muscularis propria|muscularis externa of rectum|tunica muscularis (rectum)|tunica muscularis recti|muscular coat of rectum	http://purl.obolibrary.org/obo/UBERON_0018111	A muscle layer that is part of the rectum	
UBERON:0018112	rectum smooth muscle tissue	biolink:AnatomicalEntity	mondo			rectal smooth muscle tissue|rectum smooth muscle|smooth muscle of rectum	http://purl.obolibrary.org/obo/UBERON_0018112	Any portion of smooth muscle tissue that is part of the rectum	
MONDO:0009519	letterer-Siwe disease	biolink:Disease	mondo	ICDO:9754/3|OMIM:246400|ICD10:C96.0|Orphanet:99870|MedDRA:10024265|NCIT:C3160|UMLS:C0023381	ordo_disease	histiocytosis X, acute disseminated|L-S disease|multifocal multisystem Langerhans cell histiocytosis|acute disseminated Langerhans cell histiocytosis|letterer-Siwe disease|acute and disseminated Langerhans cell histiocytosis	http://purl.obolibrary.org/obo/MONDO_0009519	A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems including the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia.	NCIT:C3160|MEDDRA:10024265|http://identifiers.org/omim/246400|MESH:C538636|ORPHA:99870|UMLS:C0023381
MONDO:0009518	leprosy, susceptibility to, 3	biolink:Disease	mondo	OMIM:246300	predisposition	LPRS3|leprosy caused by mutation in TLR2|susceptibility to leprosy 3|leprosy, susceptibility to, 3; LPRS3|leprosy, susceptibility to, 3|leprosy, susceptibility to, type 3|TLR2 leprosy	http://purl.obolibrary.org/obo/MONDO_0009518	Any leprosy in which the cause of the disease is a mutation in the TLR2 gene.	http://identifiers.org/omim/246300
MONDO:0009517	Donohue syndrome	biolink:Disease	mondo	NCIT:C84676|GARD:0006885|MESH:D056731|ICD10:E34.8|ICD9:259.8|OMIM:246200|Orphanet:508|UMLS:C0265344|SCTID:111307005|DOID:0050470	ordo_malformation_syndrome	insulin receptor, defect 1N|Donohue syndrome|leprechaunism	http://purl.obolibrary.org/obo/MONDO_0009517	Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome) characterized by intrauterine and mainly postnatal severe growth retardation.	NCIT:C84676|http://identifiers.org/omim/246200|SNOMEDCT:111307005|MESH:D056731|UMLS:C0265344|DOID:0050470|ORPHA:508
MONDO:0009516	absence deformity of leg-cataract syndrome	biolink:Disease	mondo	OMIM:246000|UMLS:C1855523|MESH:C565442|Orphanet:2310	ordo_malformation_syndrome	leg, absence deformity of, with congenital cataract	http://purl.obolibrary.org/obo/MONDO_0009516	Absence deformity of leg B cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed.	http://identifiers.org/omim/246000|ORPHA:2310|MESH:C565442|UMLS:C1855523
MONDO:0009515	Norum disease	biolink:Disease	mondo	OMIM:245900|GARD:0004011|Orphanet:79293|SCTID:238091006|UMLS:CN205883|NCIT:C84813|ICD10:E78.6|DOID:1391	ordo_clinical_subtype	lecithin:cholesterol acyltransferase deficiency|familial LCAT deficiency|lecithin acyltransferase deficiency|complete LCAT deficiency|LCAT deficiency|FLD|Norum disease	http://purl.obolibrary.org/obo/MONDO_0009515	Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme.	NCIT:C84813|SNOMEDCT:238091006|http://identifiers.org/omim/245900|ORPHA:79293|DOID:1391|UMLS:CN205883
MONDO:0009514	Laurence-Moon syndrome	biolink:Disease	mondo	ICD9:253.4|UMLS:C0023138|SCTID:232059000|GARD:0012635|DOID:1930|OMIM:245800|MESH:D007849|Orphanet:2377|ICD10:Q87.8|NCIT:C34760|MedDRA:10056710	ordo_malformation_syndrome|gard_rare	Laurence-Moon syndrome|Laurence-MOON syndrome; LNMS|Laurence-Moon-Biedl syndrome|LNMS	http://purl.obolibrary.org/obo/MONDO_0009514	Laurence-Moon syndrome (LMS) is a very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.	ORPHA:2377|http://identifiers.org/omim/245800|NCIT:C34760|SNOMEDCT:232059000|UMLS:C0023138|MESH:D007849|MEDDRA:10056710|DOID:1930
MONDO:0009513	laryngo-onycho-cutaneous syndrome	biolink:Disease	mondo	UMLS:C1328355|OMIM:245660|SCTID:722675000|Orphanet:2407|ICD10:Q81.8|GARD:0000368|MESH:C537032	ordo_disease	LARYNGOONYCHOCUTANEOUS syndrome; LOCS|Shabbir syndrome|laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome|LOCS|laryngo-onycho-cutaneous syndrome|logic syndrome|LARYNGOONYCHOCUTANEOUS syndrome|LOC syndrome	http://purl.obolibrary.org/obo/MONDO_0009513	LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites.	ORPHA:2407|MESH:C537032|UMLS:C1328355|http://identifiers.org/omim/245660|SNOMEDCT:722675000
MONDO:0009512	lethal Larsen-like syndrome	biolink:Disease	mondo	SCTID:719409004|OMIM:245650|GARD:0003181|UMLS:C4304741|Orphanet:2371|ICD10:Q74.8|MESH:C537872|UMLS:C1855535	ordo_malformation_syndrome	Larsen-like multiple joint dislocation syndrome|Larsen-like syndrome, lethal type	http://purl.obolibrary.org/obo/MONDO_0009512	Larsen-like syndrome, lethal type, is characterised by multiple joint dislocation and respiratory insufficiency due to tracheomalacia and/or lung hypoplasia. It has been described in less than ten patients. Transmission is thought to be autosomal recessive. Brain dysplasia has been described in some patients and could result from systemic hypoxic-ischemic insults during the second half of pregnancy, although genetic factors have not been ruled out.	ORPHA:2371|http://identifiers.org/omim/245650|MESH:C537872|SNOMEDCT:719409004|UMLS:C4304741|UMLS:C1855535
UBERON:0018119	left renal medulla interstitium	biolink:AnatomicalEntity	mondo			medullary interstitial tissue of left kidney	http://purl.obolibrary.org/obo/UBERON_0018119	A renal medulla interstitium that is part of a left kidney.	
MONDO:0009511	Larsen-like syndrome, B3GAT3 type	biolink:Disease	mondo	ICD10:Q74.8|DOID:0080575|MESH:C537874|Orphanet:284139|OMIM:245600	ordo_malformation_syndrome	multiple Joint dislocations, short stature, and craniofacial Dysmorphism with or without congenital heart defects|Larsen syndrome, autosomal recessive, formerly|Larsen syndrome, autosomal recessive|multiple JOINT dislocations, short stature, craniofacial dysmorphism, and congenital heart defects|multiple JOINT dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects; JDSCD|JDSCD|multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome	http://purl.obolibrary.org/obo/MONDO_0009511	Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.	ORPHA:284139|http://identifiers.org/omim/245600|DOID:0080575|MESH:C537874
MONDO:0009510	obsolete Laron syndrome with immunodeficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0009510		
UBERON:0018117	left renal cortex interstitium	biolink:AnatomicalEntity	mondo			cortical interstitial tissue of left kidney	http://purl.obolibrary.org/obo/UBERON_0018117	A renal cortex interstitium that is part of a left kidney.	
UBERON:0018118	right renal cortex interstitium	biolink:AnatomicalEntity	mondo			cortical interstitial tissue of right kidney	http://purl.obolibrary.org/obo/UBERON_0018118	A renal cortex interstitium that is part of a right kidney.	
NCBITaxon:28556	Pleosporaceae	organism taxon	mondo	GC_ID:1		Pyrenophoraceae	http://purl.obolibrary.org/obo/NCBITaxon_28556		
UBERON:0018115	left renal pelvis	biolink:AnatomicalEntity	mondo			pelvis of left ureter|renal pelvis of left kidney	http://purl.obolibrary.org/obo/UBERON_0018115	A renal pelvis that is part of a left ureter.	
UBERON:0018116	right renal pelvis	biolink:AnatomicalEntity	mondo			pelvis of right kidney|pelvis of right ureter	http://purl.obolibrary.org/obo/UBERON_0018116	A renal pelvis that is part of a right ureter.	
UBERON:0006135	myelinated nerve fiber	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006135	Axons of neurons encased in a lipoproteinaceous material called myelin. (MeSH)	
UBERON:0006134	nerve fiber	biolink:AnatomicalEntity	mondo			neurofibra|neurofibra|nerve fibre|nerve fibers|neurofibrum	http://purl.obolibrary.org/obo/UBERON_0006134	A threadlike extension of a nerve cell and consists of an axon and myelin sheath (if it is myelinated) in the nervous system. There are nerve fibers in the central nervous system and peripheral nervous system. A nerve fiber may be myelinated and/or unmyelinated. In the central nervous system (CNS), myelin by oligodendroglia cells is formed. Schwann cells form myelin in the peripheral nervous system (PNS). Schwann cells also make a thin covering in an axon without myelin (in the PNS). A peripheral nerve fiber contains an axon, myelin sheath, schwann cells and its endoneurium. There are no endoneurium and schwann cells in the central nervous system.	
UBERON:0006133	funiculus of neuraxis	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006133	The cerebrospinal nerves consist of numerous nerve fibers collected together and enclosed in membranous sheaths. A small bundle of fibers, enclosed in a tubular sheath, is called a funiculus; if the nerve is of small size, it may consist only of a single funiculus; but if large, the funiculi are collected together into larger bundles or fasciculi, which are bound together in a common membranous investment. Examples include: Anterior funiculus of the spinal cord Lateral funiculus of the spinal cord Posterior funiculus of the spinal cord Funiculus solitarius of the medulla Funiculus separans	
HGNC:2063	CLIC2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2063		
GO:2000531	obsolete regulation of fatty acid biosynthetic process by regulation of transcription from RNA polymerase II promoter	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000531	OBSOLETE. Any process that modulates the frequency, rate or extent of the biosynthesis of fatty acids, by modulating the frequency, rate or extent of transcription from an RNA polymerase II promoter.	
UBERON:0006136	unmyelinated nerve fiber	biolink:AnatomicalEntity	mondo			non-myelinated nerve fiber	http://purl.obolibrary.org/obo/UBERON_0006136		
MONDO:0022545	Barnicoat Baraitser syndrome	biolink:Disease	mondo	GARD:0000825	gard_rare	polysyndactyly overgrowth syndrome|Barnicoat-Baraitser syndrome	http://purl.obolibrary.org/obo/MONDO_0022545		
MONDO:0022546	basal cell nevus anodontia abnormal bone mineralization	biolink:Disease	mondo	GARD:0000831	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022546		
MONDO:0009569	Hennekam-Beemer syndrome	biolink:Disease	mondo	Orphanet:2135|SCTID:722453009|UMLS:CN201032|MESH:C536033|GARD:0003409|OMIM:248910|ICD10:Q82.2	ordo_malformation_syndrome|gard_rare	skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe mental retardation|mastocytosis cutaneous with short stature conductive hearing loss and microtia|Hennekam Beemer syndrome|cutaneous mastocytosis, conductive hearing loss and microtia|mastocytosis-short stature-hearing loss syndrome|skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe intellectual disability	http://purl.obolibrary.org/obo/MONDO_0009569	Hennekam-Beemer syndrome is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. The mode of inheritance is most likely autosomal recessive.	SNOMEDCT:722453009|http://identifiers.org/omim/248910|ORPHA:2135|UMLS:CN201032|MESH:C536033
MONDO:0010558	choroideremia-deafness-obesity syndrome	biolink:Disease	mondo	ICD10:Q87.8|UMLS:C1844836|MESH:C537793|OMIM:303110|Orphanet:1435|SCTID:717761005|GARD:0000369	ordo_malformation_syndrome	choroideremia, obesity, and congenital deafness|Ayazi syndrome|choroideremia, deafness, and mental retardation|choroideremia deafness obesity|chromosome Xq21 deletion syndrome|choroideremia, deafness, and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0010558	Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.	SNOMEDCT:717761005|ORPHA:1435|UMLS:C1844836|MESH:C537793|http://identifiers.org/omim/303110
MONDO:0010557	choroideremia	biolink:Disease	mondo	NCIT:C34469|MedDRA:10008791|UMLS:C0008525|ICD10:H31.21|MESH:D015794|GARD:0006061|OMIM:303100|SCTID:75241009|ICD9:363.55|Orphanet:180|DOID:9821|ICD10:H31.2	ordo_disease|gard_rare	progressive choroidal atrophy|choroideremia|Tapetochoroidal dystrophy, progressive|TCD|progressive tapetochoroidal dystrophy|choroidal sclerosis|choroideremia; CHM|CHM|Tapetochoroidal dystrophy	http://purl.obolibrary.org/obo/MONDO_0010557	Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.	DOID:9821|MEDDRA:10008791|MESH:D015794|NCIT:C34469|ORPHA:180|UMLS:C0008525|SNOMEDCT:75241009|http://identifiers.org/omim/303100
MONDO:0009568	mast syndrome	biolink:Disease	mondo	OMIM:248900|MESH:C565409|UMLS:C1855346|Orphanet:101001|ICD10:G11.4|SCTID:764734003|DOID:0060245	ordo_disease	hereditary spastic paraplegia 21|SPG21|Mast syndrome|autosomal recessive spastic paraplegia type 21|spastic paraplegia 21, autosomal recessive|autosomal recessive spastic paraplegia 21|mast syndrome	http://purl.obolibrary.org/obo/MONDO_0009568	Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging.	DOID:0060245|ORPHA:101001|http://identifiers.org/omim/248900|SNOMEDCT:764734003|UMLS:C1855346|MESH:C565409
MONDO:0009567	Marinesco-Sjogren syndrome	biolink:Disease	mondo	ICD10:G11.1|UMLS:C0024814|DOID:0080195|ICD9:742.4|SCTID:80734006|OMIM:248800|Orphanet:559|GARD:0008341	ordo_disease	Marinesco-Sjogren syndrome-myopathy|hereditary oligophrenic cerebello-lental degeneration|oligophrenic cerebellolenticular degeneration|Marinesco-Sjogren syndrome|Marinesco-Sjogren syndrome; MSS|Marinesco-Sjögren syndrome|Marinesco-Sjogren syndrome-Hypergonadotrophic hypogonadism|MSS|Marinesco-Sjogren-Garland syndrome|Garland-Moorhouse syndrome|Marinesco-Garland syndrome	http://purl.obolibrary.org/obo/MONDO_0009567	Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.	UMLS:C0024814|SNOMEDCT:80734006|http://identifiers.org/omim/248800|DOID:0080195|ORPHA:559
MONDO:0010559	MASA syndrome	biolink:Disease	mondo	GARD:0006986|UMLS:C0795953|OMIM:303350|NCIT:C129930|Orphanet:2466|DOID:0060246|ICD10:G11.4|SCTID:716996008	ordo_clinical_subtype	Clasped thumb and intellectual disability|thumb congenital clasped with intellectual disability|Gareis-Mason syndrome|adducted thumb with mental retardation|thumb, congenital Clasped, with mental retardation|intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome|spastic paraplegia 1, X-linked|crash syndrome|X-linked spastic paraplegia 1|adducted thumb with intellectual disability|thumb, congenital Clasped, with intellectual disability|spastic paraplegia, X-linked|thumb congenital clasped with mental retardation|Clasped thumb and mental retardation|intellectual disability, aphasia, shuffling Gait, and adducted thumbs|X-linked corpus callosum agenesis|mental retardation aphasia shuffling Gait adducted thumbs (MASA)|spastic paraplegia 1|X-linked complicated hereditary spastic paraplegia type 1|MASA syndrome|L1 syndrome|intellectual disability aphasia shuffling Gait adducted thumbs (MASA)|mental retardation, aphasia, shuffling Gait, and adducted thumbs|SPG1|hereditary spastic paraplegia 1	http://purl.obolibrary.org/obo/MONDO_0010559	MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.	ORPHA:2466|MESH:C536029|SNOMEDCT:716996008|UMLS:C0795953|NCIT:C129930|http://identifiers.org/omim/303350|DOID:0060246
MONDO:0009566	marfanoid habitus-autosomal recessive intellectual disability syndrome	biolink:Disease	mondo	GARD:0003388|Orphanet:2463|OMIM:248770|MESH:C565410|ICD10:Q87.8|UMLS:C1855347	ordo_malformation_syndrome	MARFANOID mental retardation syndrome, autosomal|Marfanoid intellectual disability syndrome autosomal|MARFANOID intellectual disability syndrome, autosomal|Marfanoid mental retardation syndrome autosomal	http://purl.obolibrary.org/obo/MONDO_0009566	Marfanoid habitus B intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit.	http://identifiers.org/omim/248770|UMLS:C0268364|ORPHA:2463|MESH:C565410|UMLS:C1855347
MONDO:0009565	microcephaly-glomerulonephritis-marfanoid habitus syndrome	biolink:Disease	mondo	ICD10:Q87.8|OMIM:248760|GARD:0003615|Orphanet:2172|UMLS:C1855348|MESH:C565411	gard_rare|ordo_malformation_syndrome	microcephaly glomerulonephritis Marfanoid habitus|MARFANOID habitus with microcephaly and glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0009565	This syndrome is characterised by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis.	http://identifiers.org/omim/248760|ORPHA:2172|MESH:C565411|UMLS:C1855348
MONDO:0009564	Marden-Walker syndrome	biolink:Disease	mondo	ICD10:Q87.0|ICD9:759.89|OMIM:248700|GARD:0006973|MESH:C535910|SCTID:449824004|Orphanet:2461	ordo_malformation_syndrome	MWKS|MARDEN-WALKER syndrome; MWKS|connective tissue disorder Marden Walker type|Marden-Walker syndrome|Mws	http://purl.obolibrary.org/obo/MONDO_0009564	Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.	MESH:C535910|http://identifiers.org/omim/248700|UMLS:C0796033|ORPHA:2461|SNOMEDCT:449824004
MONDO:0009563	maple syrup urine disease	biolink:Disease	mondo	MedDRA:10026817|Orphanet:511|MESH:D008375|DOID:9269|ICD10:E71.0|GARD:0003228|OMIMPS:248600|OMIM:248600|NCIT:C34806|UMLS:C0024776|SCTID:27718001	ordo_disease|prototype_pattern	BCKDH deficiency|maple syrup urine disease, type 2|maple syrup urine disease; MSUD|dihydrolipoamide dehydrogenase deficiency|maple syrup urine disease, thiamine-responsive|maple syrup urine disease, classic|maple syrup urine disease, intermittent|maple syrup urine disease, type 1B|maple syrup urine disease, type 1A|branched chain ketoaciduria|branched-chain ketoaciduria|Ketoacidaemia|branched-chain 2-ketoacid dehydrogenase deficiency|maple syrup urine disease|BCKD deficiency|branched-chain Alpha-Keto acid dehydrogenase deficiency|Keto acid decarboxylase deficiency|MSUD|maple syrup urine disease, Intermediate	http://purl.obolibrary.org/obo/MONDO_0009563	An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death.	DOID:9269|http://identifiers.org/omim/248600|UMLS:C0268576|MEDDRA:10026817|ORPHA:511|MESH:D008375|NCIT:C34806|SNOMEDCT:27718001|UMLS:C0024776
MONDO:0009562	beta-mannosidosis	biolink:Disease	mondo	Orphanet:118|OMIM:248510|MESH:D044905|UMLS:C4048196|ICD9:271.8|GARD:0000869|DOID:3633|SCTID:238047006|NCIT:C84596|ICD10:E77.1	ordo_disease	mannosidosis, BETA A, lysosomal|beta-mannosidosis|lysosomal beta-mannosidase deficiency|mannosidosis, BETA A, lysosomal; MANSB|Beta-mannosidase deficiency|Beta-D-mannosidosis|beta-mannosidase deficiency|MANSB|lysosomal Beta-mannosidase deficiency	http://purl.obolibrary.org/obo/MONDO_0009562	Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.	UMLS:C4048196|http://identifiers.org/omim/248510|NCIT:C84596|SNOMEDCT:238047006|MESH:D044905|ORPHA:118|UMLS:C0342849|DOID:3633
MONDO:0009561	alpha-mannosidosis	biolink:Disease	mondo	OMIM:248500|SCTID:65524005|ICD9:271.8|NCIT:C84548|MESH:D008363|GARD:0006968|DOID:3413|Orphanet:61|UMLS:C0024748|ICD10:E77.1	ordo_disease|gard_rare	alpha-mannosidosis|deficiency of alpha-mannosidase|mannosidosis, ALPHA B, lysosomal; MANSA|mannosidosis, ALPHA B, lysosomal|Alpha-D-mannosidosis|mannosidosis, alpha B lysosomal|lysosomal Alpha-D-mannosidase deficiency|alpha-mannosidase deficiency|lysosomal alpha-D-mannosidase deficiency|MANSA|Alpha mannosidase B deficiency|Alpha-mannosidase B deficiency	http://purl.obolibrary.org/obo/MONDO_0009561	Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit.	ORPHA:61|http://identifiers.org/omim/248500|NCIT:C84548|MESH:D008363|SNOMEDCT:65524005|DOID:3413|UMLS:C0024748
MONDO:0010561	Coffin-Lowry syndrome	biolink:Disease	mondo	ICD10:Q87.0|SCTID:15182000|UMLS:C0265252|MESH:C536435|NCIT:C84643|DOID:3783|GARD:0008589|ICD9:759.89|Orphanet:192|GARD:0006123|MESH:D038921|OMIM:303600	ordo_malformation_syndrome|gard_rare	dwarfism, lean spastic type|Coffin syndrome|Coffin syndrome 1|lean spastic dwarfism|intellectual disability with osteocartilaginous abnormalities|COFFIN-Lowry syndrome; CLS|CLS|Coffin-Lowry syndrome|mental retardation with osteocartilaginous abnormalities	http://purl.obolibrary.org/obo/MONDO_0010561	Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.	ORPHA:192|UMLS:C0265252|MESH:D038921|MESH:C536435|SNOMEDCT:15182000|DOID:3783|http://identifiers.org/omim/303600|NCIT:C84643
MONDO:0010560	cleft palate with or without ankyloglossia, X-linked	biolink:Disease	mondo	SCTID:766761000|DOID:0060613|OMIM:303400|ICD10:Q35.9|MESH:C536426|GARD:0001394|Orphanet:324601	ordo_malformation_syndrome|gard_rare	X-linked cleft palate and ankyloglossia|X-linked cleft palate|cleft palate X-linked|CPX|cleft palate with or without ankyloglossia, X-linked|cleft palate, X-linked|cleft palate with or without ankyloglossia, X-linked; CPX	http://purl.obolibrary.org/obo/MONDO_0010560	X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported.	MESH:C536426|SNOMEDCT:766761000|http://identifiers.org/omim/303400|DOID:0060613|ORPHA:324601
MONDO:0009560	oculotrichoanal syndrome	biolink:Disease	mondo	ICD9:759.89|MESH:C536022|Orphanet:2717|ICD10:Q87.8|GARD:0003395|SCTID:703539006|OMIM:248450|UMLS:C1855425	ordo_malformation_syndrome	MOTA syndrome|Marles syndrome|MANITOBA oculotrichoanal syndrome|Manitoba Trichoanal syndrome|MOTA|Manitoba oculotrichoanal syndrome|Marles-Greenberg-Persaud syndrome|unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies|MANITOBA oculotrichoanal syndrome; MOTA	http://purl.obolibrary.org/obo/MONDO_0009560		http://identifiers.org/omim/248450|SNOMEDCT:703539006|MESH:C536022|ORPHA:2717|UMLS:C1855425
HGNC:2076	CLN5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2076		
MONDO:0010563	blue cone monochromacy	biolink:Disease	mondo	ICD10:H53.5|MESH:C536238|DOID:0050679|SCTID:24704003|Orphanet:16|UMLS:CN036572|GARD:0000917|OMIM:303700	gard_rare|ordo_disease	blue cone monochromacy; BCM|X-chromosome-linked achromatopsia|S cone monochromatism|CBBM|X-linked achromatopsia incomplete|incomplete achromatopsia X-linked|colorblindness, blue-Mono-cone-monochromatic type|blue cone monochromacy|BCM|blue cone monochromatism|cone dystrophy 5, X-linked|achromatopsia incomplete X-linked|S cone monochromacy|X-linked incomplete achromatopsia|color blindness, blue monocone monochromatic type|atypical X-linked achromatopsia|color blindness blue mono cone monochromatic type	http://purl.obolibrary.org/obo/MONDO_0010563	Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia.	MESH:C538165|UMLS:C0339537|MESH:C536238|DOID:0050679|SNOMEDCT:24704003|http://identifiers.org/omim/303700|UMLS:CN036572|ORPHA:16|UMLS:C2931753
HGNC:2073	TPP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2073		
MONDO:0010562	colonic atresia (disease)	biolink:Disease	mondo	NCIT:C101024|OMIM:303650|HP:0010448|ICD10:Q42.9|MESH:C562562|GARD:0001446|SCTID:37054000|Orphanet:1198	ordo_morphological_anomaly	colonic atresia|colon atresia|atresia of colon|congenital atresia of colon	http://purl.obolibrary.org/obo/MONDO_0010562	Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns.	UMLS:C0266190|ORPHA:1198|NCIT:C101024|SNOMEDCT:37054000|http://identifiers.org/omim/303650|MESH:C562562
HGNC:2074	CLN3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2074		
MONDO:0010565	red color blindness	biolink:Disease	mondo	EFO:0005580|ICD10:H53.54|SCTID:51445007|ICD9:368.51|DOID:13910|OMIM:303900		protanopia|protan defect|colorblindness, partial, protan series; CBP|CBP|protanomaly|red colorblindness|colorblindness, partial, protan series	http://purl.obolibrary.org/obo/MONDO_0010565	Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males.	DOID:13910|http://identifiers.org/omim/303900|SNOMEDCT:51445007
MONDO:0010564	red-green color blindness	biolink:Disease	mondo	ICD9:368.52|DOID:13909|UMLS:C0155016|ICD10:H53.53|OMIM:303800|SCTID:77479002|EFO:0005581		Deutan defect|deuteranopia|colorblindness, partial, DEUTAN series; CBD|CBD|Deutan colorblindness|reduced red-green discrimination|colorblindness, partial, DEUTAN series|Green colorblindness|Deuteranomaly	http://purl.obolibrary.org/obo/MONDO_0010564	Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population.	SNOMEDCT:77479002|UMLS:C0155016|DOID:13909|http://identifiers.org/omim/303800
MONDO:0010567	cone dystrophy, X-linked, with tapetal-like sheen	biolink:Disease	mondo	GARD:0010119|MESH:C535975|UMLS:C1844775|OMIM:304030	gard_rare	cone dystrophy, X-linked, with tapetal-like sheen|X-linked recessive cone dystrophy with tapetal-like sheen|cone dystrophy X-linked with tapetal-like sheen	http://purl.obolibrary.org/obo/MONDO_0010567		UMLS:C1844775|http://identifiers.org/omim/304030|MESH:C535975
MONDO:0010566	X-linked cone-rod dystrophy 1	biolink:Disease	mondo	MESH:C564438|GARD:0010652|DOID:0111008|OMIM:304020	gard_rare	CORDX1|cone dystrophy X-linked 1|COD1|X-linked cone dystrophy 1|X-linked cone-rod dystrophy type 1|cone dystrophy 1, X-linked|cone-rod dystrophy, X-linked, type 1|cone-rod dystrophy X-linked 1|cone-rod dystrophy, X-linked, 1; CORDX1|cone-rod dystrophy, X-linked, 1	http://purl.obolibrary.org/obo/MONDO_0010566		DOID:0111008|http://identifiers.org/omim/304020|MESH:C564438
MONDO:0022538	leukoplakia of gingiva	biolink:Disease	mondo	NCIT:C3881|UMLS:C0239737|ICD9:528.6|SCTID:32236000		Leukoplakia of Gingiva|Gingival Leukoplakia|Leukoplakia of gingiva|leukoplakia of gingiva|gingival leukoplakia	http://purl.obolibrary.org/obo/MONDO_0022538	A clinical term that indicates the presence of a white patch on the surface of the gum which cannot be characterized as any other disease. It may be a precancerous condition and in most cases histologic examination reveals keratosis.	UMLS:C0239737|NCIT:C3881|SNOMEDCT:32236000
HGNC:2079	CLN8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2079		
HGNC:2077	CLN6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2077		
MONDO:0022535	autonomic facial cephalgia	biolink:Disease	mondo	ICD9:337.09|SCTID:230482003|UMLS:C0238902|GARD:0010369		Carotidynia|carotidynia|Autonomic facial cephalgia|Carotodynia	http://purl.obolibrary.org/obo/MONDO_0022535		UMLS:C0238902|SNOMEDCT:230482003
MONDO:0010547	X-linked progressive cerebellar ataxia	biolink:Disease	mondo	UMLS:C0796205|OMIM:302500|Orphanet:1175|ICD10:G11.1|MESH:C563134	ordo_disease	spinocerebellar ataxia, X-linked type 1|spinocerebellar ataxia, X-linked 1; SCAX1|OPCA, X-linked|olivopontocerebellar atrophy, X-linked|SCAX1|spinocerebellar ataxia, X-linked 1	http://purl.obolibrary.org/obo/MONDO_0010547		http://identifiers.org/omim/302500|UMLS:C0796205|ORPHA:1175|MESH:C563134
MONDO:0009579	Frank-Ter Haar syndrome	biolink:Disease	mondo	GARD:0005138|DOID:0111789|ICD10:Q87.8|SCTID:720958002|MESH:C537274|UMLS:C1855305|OMIM:249420|Orphanet:137834	gard_rare|ordo_disease	autosomal recessive Melnick-Needles syndrome (formerly)|Ter Haar syndrome|megalocornea, multiple skeletal anomalies, and developmental delay|Borrone Dermatocardioskeletal syndrome|Frank-Ter Haar syndrome|FRANK-TER Haar syndrome; FTHS|Melnick-Needles syndrome, autosomal recessive, formerly|Frank Ter Haar syndrome|Melnick-Needles syndrome, autosomal recessive|FTHS	http://purl.obolibrary.org/obo/MONDO_0009579	Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.	SNOMEDCT:720958002|http://identifiers.org/omim/249420|ORPHA:137834|MESH:C537274|UMLS:C1855305|DOID:0111789
MONDO:0010546	central incisors, absence of	biolink:Disease	mondo	OMIM:302400		central incisors, absence of	http://purl.obolibrary.org/obo/MONDO_0010546		http://identifiers.org/omim/302400
UBERON:0006192	mesonephric proximal tubule	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006192	The mesonephric proximal tubule extends from the capsule to the distal tubule	
MONDO:0010549	Charcot-Marie-Tooth disease X-linked dominant 1	biolink:Disease	mondo	GARD:0001258|SCTID:763455008|UMLS:C0393808|DOID:0110209|ICD10:G60.0|OMIM:302800|Orphanet:101075|NCIT:C129068	ordo_disease	Charcot-Marie-Tooth disease X-linked dominant type 1|Charcot-Marie-Tooth peroneal muscular atrophy, X-linked|CMT1X|CMTX 1|Charcot Marie Tooth disease X-linked 1|CMTX|Charcot-Marie-Tooth disease, X-linked dominant, 1|GJB1 Charcot-Marie-Tooth disease type X|CMT2, formerly|Charcot-Marie-Tooth neuropathy X type 1|Charcot-Marie-Tooth neuropathy, X-linked, 1|hereditary motor and sensory neuropathy, X-linked|X-linked Charcot-Marie-Tooth disease type 1|Charcot-Marie-Tooth disease, X-linked dominant, type 1|CMT2|Charcot-Marie-Tooth disease, X-linked, 1|Charcot-Marie-Tooth disease, X-linked dominant, 1; CMTX1|CMTX1|Charcot-Marie-Tooth disease type X caused by mutation in GJB1|HMSN, X-linked|Charcot-Marie-Tooth neuropathy X-linked dominant 1	http://purl.obolibrary.org/obo/MONDO_0010549	Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females.	MESH:C535919|ORPHA:101075|http://identifiers.org/omim/302800|UMLS:C0393808|NCIT:C129068|SNOMEDCT:763455008|DOID:0110209
MONDO:0009578	neurocutaneous melanocytosis	biolink:Disease	mondo	ICD10:D22.4|ICD10:D22.3|OMIM:249400|Orphanet:2481|GARD:0007186|ICD10:D22.7|ICD10:D22.6|MESH:C537387|ICD10:D22.5	ordo_disease	Neuromelanosis|neurocutaneous melanosis syndrome|melanosis, neurocutaneous; NCMS|melanosis, neurocutaneous|NCMS|neurocutaneous melanosis|NCM	http://purl.obolibrary.org/obo/MONDO_0009578	Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.	http://identifiers.org/omim/249400|ORPHA:2481|UMLS:C0544862|MESH:C537387
MONDO:0009577	megalocornea-intellectual disability syndrome	biolink:Disease	mondo	ICD10:Q87.8|MESH:C536143|SCTID:733522005|UMLS:C0796086|OMIM:249310|GARD:0003448|Orphanet:2479	ordo_malformation_syndrome|gard_rare	Neuhauser syndrome|Neuhäuser syndrome|MMR syndrome|NeuhC$user syndrome|megalocornea-intellectual disability syndrome|megalocornea intellectual disability syndrome|megalocornea mental retardation syndrome|megalocornea-mental retardation syndrome	http://purl.obolibrary.org/obo/MONDO_0009577	Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.	http://identifiers.org/omim/249310|UMLS:C0796086|ORPHA:2479|MESH:C536143|SNOMEDCT:733522005
MONDO:0010548	spinocerebellar ataxia, X-linked 2	biolink:Disease	mondo	OMIM:302600|UMLS:C1844885|GARD:0009978|MESH:C537314		spinocerebellar ataxia, X-linked type 2|spinocerebellar ataxia, X-linked 2|spinocerebellar ataxia X-linked type 2|cerebellar ataxia with extrapyramidal involvement, early-onset|Scax2|cerebellar ataxia with extrapyramidal involvement early-onset	http://purl.obolibrary.org/obo/MONDO_0010548		http://identifiers.org/omim/302600|MESH:C537314|UMLS:C1844885
UBERON:0006190	mesonephric distal tubule	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006190	The mesonephric distal tubule is a mesonephric nephron tubule that begins at the macula densa and extends to the mesonephric connecting tubule	
MONDO:0009576	megalocornea (disease)	biolink:Disease	mondo	HP:0007660|HP:0000485|OMIM:249300|MESH:C562829|DOID:0060305|SCTID:268158009		congenital anterior megalophthalmia|anterior megalophthalmos|megalocornea	http://purl.obolibrary.org/obo/MONDO_0009576		DOID:0060305|http://identifiers.org/omim/249300|MESH:C562829|SNOMEDCT:268158009
MONDO:0009575	thiamine-responsive megaloblastic anemia syndrome	biolink:Disease	mondo	ICD10:Q21.0|MESH:C536510|DOID:0090117|GARD:0009210|Orphanet:49827|OMIM:249270|SCTID:237617006|GARD:9210	gard_rare|ordo_disease	thiamine-responsive megaloblastic anemia syndrome; TRMA|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus and deafness type)|thiamine metabolism dysfunction syndrome 1 (megaloblastic Anemia, diabetes mellitus, and deafness type)|thiamine responsive megaloblastic anemia syndrome|megaloblastic anemia thiamine-responsive with diabetes mellitus and sensorineural deafness|thiamine metabolism dysfunction syndrome 1|Rogers syndrome|thiamine-responsive Anemia syndrome|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|megaloblastic Anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness|thiamine-responsive megaloblastic anemia syndrome|thiamine-responsive myelodysplasia|TRMA|thiamine-responsive anemia syndrome|THMD1	http://purl.obolibrary.org/obo/MONDO_0009575	Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.	http://identifiers.org/omim/249270|ORPHA:49827|SNOMEDCT:237617006|MESH:C536510|UMLS:C0342287|DOID:0090117
MONDO:0009574	megalencephaly with dysmyelination	biolink:Disease	mondo	OMIM:249240|MESH:C565408|UMLS:C1855309		megalencephaly with diffuse white matter hypodensity|megalencephaly with dysmyelination	http://purl.obolibrary.org/obo/MONDO_0009574		http://identifiers.org/omim/249240|UMLS:C1855309|MESH:C565408
MONDO:0009573	megaepiphyseal dwarfism	biolink:Disease	mondo	OMIM:249230|GARD:0003444	gard_rare	megaepiphyseal dwarfism	http://purl.obolibrary.org/obo/MONDO_0009573		http://identifiers.org/omim/249230
MONDO:0009572	autosomal recessive familial Mediterranean fever	biolink:Disease	mondo	OMIM:249100		familial Mediterranean fever, autosomal recessive|FMF|polyserositis, recurrent|familial Mediterranean fever|polyserositis, familial paroxysmal|familial MEDITERRANEAN FEVER; FMF	http://purl.obolibrary.org/obo/MONDO_0009572	Autosomal recessive form of familial Mediterranean fever.	http://identifiers.org/omim/249100
MONDO:0010550	Charcot-Marie-Tooth disease X-linked recessive 2	biolink:Disease	mondo	DOID:0110208|Orphanet:101076|OMIM:302801|MESH:C535302|ICD10:G60.0|SCTID:763457000|UMLS:C1844873|GARD:0001243	ordo_disease	X-linked Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease, X-linked recessive, 2|Charcot Marie Tooth disease X-linked recessive 2|Charcot-Marie-Tooth disease, X-linked recessive, 2; CMTX2|CMTX2|Charcot-Marie-Tooth neuropathy X-linked recessive 2|CMTX 2|Charcot-Marie-Tooth neuropathy, X-linked recessive, 2|Charcot-Marie-Tooth disease X-linked recessive type 2	http://purl.obolibrary.org/obo/MONDO_0010550	X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals.	SNOMEDCT:763457000|UMLS:C1844873|DOID:0110208|MESH:C535302|ORPHA:101076|http://identifiers.org/omim/302801
MONDO:0009571	Meckel syndrome, type 1	biolink:Disease	mondo	MESH:C536133|OMIM:249000|DOID:0070115|UMLS:C3714506|ICD10:Q61.9		MKS|Meckel syndrome, type 1; MKS1|Meckel-Gruber syndrome, type 1|Meckel syndrome, type 1|MKS1 Meckel syndrome|Meckel Gruber syndrome|Meckel syndrome 1|Gruber syndrome|MKS1|Mes|Meckel syndrome type1|Dysencephalia Splanchnocystica|Meckel syndrome|Meckel syndrome caused by mutation in MKS1|Meckel-Gruber syndrome|Dysencephalia splachnocystica	http://purl.obolibrary.org/obo/MONDO_0009571	Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene.	DOID:0070115|UMLS:C3714506|MESH:C536133|http://identifiers.org/omim/249000
MONDO:0010552	Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita	biolink:Disease	mondo	MESH:C538077|UMLS:C1844864|OMIM:302803		Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita	http://purl.obolibrary.org/obo/MONDO_0010552		MESH:C538077|UMLS:C1844864|http://identifiers.org/omim/302803
MONDO:0009570	McDonough syndrome	biolink:Disease	mondo	OMIM:248950|ICD10:Q87.8|Orphanet:2471|MESH:C538158|GARD:0003424|SCTID:715441004|UMLS:C0796038	gard_rare|ordo_malformation_syndrome	McDonough syndrome|mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect|intellectual disability, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect	http://purl.obolibrary.org/obo/MONDO_0009570	A rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism.	UMLS:C0796038|http://identifiers.org/omim/248950|MESH:C538158|ORPHA:2471|SNOMEDCT:715441004
HGNC:2084	CLPP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2084		
MONDO:0010551	Charcot-Marie-Tooth disease X-linked recessive 3	biolink:Disease	mondo	Orphanet:101077|ICD10:G60.0|SCTID:763458005|MESH:C535303|UMLS:C1844865|GARD:0001244|DOID:0110211|OMIM:302802	ordo_disease	Charcot-Marie-Tooth disease, X-linked recessive, 3|Charcot Marie Tooth disease X-linked recessive 3|Charcot-Marie-Tooth disease X-linked recessive type 3|Charcot-Marie-Tooth disease, X-linked recessive, 3; CMTX3|CMTX 3|Charcot-Marie-Tooth neuropathy, X-linked recessive, 3|X-linked Charcot-Marie-Tooth disease type 3|Charcot-Marie-Tooth neuropathy X-linked recessive 3|CMT3X|CMTX3	http://purl.obolibrary.org/obo/MONDO_0010551	X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported.	SNOMEDCT:763458005|UMLS:C1844865|MESH:C535303|DOID:0110211|ORPHA:101077|http://identifiers.org/omim/302802
MONDO:0010554	Abruzzo-Erickson syndrome	biolink:Disease	mondo	MESH:C535559|SCTID:718574003|OMIM:302905|Orphanet:921|ICD10:Q87.8|GARD:0000360|UMLS:C1844862	gard_rare|ordo_malformation_syndrome	cleft palate-coloboma-deafness syndrome|CHARGE-like syndrome, X-linked|CHARGE like syndrome X-linked|CHARGE-like syndrome|Abruzzo-Erickson syndrome|ABERS|Abruzzo-Erickson syndrome; ABERS	http://purl.obolibrary.org/obo/MONDO_0010554	Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.	http://identifiers.org/omim/302905|UMLS:C1844862|SNOMEDCT:718574003|MESH:C535559|ORPHA:921
MONDO:0010553	Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined	biolink:Disease	mondo	OMIM:302900|MESH:C564446|UMLS:C1844863		Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined	http://purl.obolibrary.org/obo/MONDO_0010553		http://identifiers.org/omim/302900|UMLS:C1844863|MESH:C564446
MONDO:0010556	X-linked chondrodysplasia punctata	biolink:Disease	mondo	DOID:0060292|UMLS:C0263627|ICD10:Q77.3	gard_rare|ordo_disease|prototype_pattern	chondrodysplasia punctata, X-linked|X-linked dominant chondrodysplasia punctata|chondrodystrophia calcificans congenita|chondrodysplasia punctata, X-linked dominant|CPXD	http://purl.obolibrary.org/obo/MONDO_0010556	X-linked form of chondrodysplasia punctata.	DOID:0060292|UMLS:C0263627
MONDO:0010555	X-linked chondrodysplasia punctata 1	biolink:Disease	mondo	UMLS:C1844853|OMIM:302950|ICD10:Q77.3|UMLS:C3669395|GARD:0001296|Orphanet:79345	gard_rare|ordo_malformation_syndrome|prototype_pattern	arse X-linked chondrodysplasia punctata|CDPX1|chondrodysplasia punctata 1, X-linked recessive; CDPX1|brachytelephalangic chondrodysplasia punctata|chondrodysplasia punctata 1, X-linked recessive|arylsulfatase E deficiency|chondrodysplasia punctata 1 X-linked recessive|X-linked chondrodysplasia punctata caused by mutation in arse|X-linked chondrodysplasia punctata caused by mutation in ARSE|chondrodysplasia punctata, brachytelephalangic|chondrodysplasia punctata brachytelephalangic|Cpxr|CPXR|ARSE X-linked chondrodysplasia punctata|chondrodysplasia punctata, Brachytelephalangic	http://purl.obolibrary.org/obo/MONDO_0010555	Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones.	http://identifiers.org/omim/302950|UMLS:C1844853|ORPHA:79345|UMLS:C3669395|MESH:C535941
NCBITaxon:2683628	Bigyra	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2683628		
NCBITaxon:2683629	Opalozoa	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2683629		
MONDO:0022529	BK-virus nephropathy	biolink:Disease	mondo	ICD9:079.89|GARD:0010470|SCTID:713886006|DOID:0040086|UMLS:C1697878	gard_rare	polyomavirus associated nephropathy|PVAN|nephropathy from BK virus|kidney disease caused by BK polyomavirus|nephropathy caused by BK polyomavirus|BK virus nephropathy|Polyomavirus nephropathy|BKN	http://purl.obolibrary.org/obo/MONDO_0022529		UMLS:C1697878|DOID:0040086|SNOMEDCT:713886006
NCBITaxon:162997	Culex annulirostris	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_162997		
MONDO:0009549	severe early-childhood-onset retinal dystrophy	biolink:Disease	mondo	SCTID:716663009|OMIM:248200|Orphanet:364055|ICD10:H35.5	ordo_disease	fundus flavimaculatus|macular Degeneration, juvenile|SECORD|Stargardt disease type 1|early-onset severe retinal dystrophy|STGD1|Stgd|retinal dystrophy, early-onset severe|Stargardt disease 1|EOSRD|Stargardt disease 1; STGD1|macular dystrophy with flecks, type 1	http://purl.obolibrary.org/obo/MONDO_0009549	Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy, characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. An overlap with Leber congenital amaurosis (LCA) occurs when patients are characterized by their visual acuity and panretinal dystrophy.	SNOMEDCT:716663009|http://identifiers.org/omim/248200|ORPHA:364055
MONDO:0009548	renal hypomagnesemia 5 with ocular involvement	biolink:Disease	mondo	Orphanet:2196|ICD10:E83.4|DOID:0060881|MESH:C536148|GARD:0003451|OMIM:248190	ordo_disease|gard_rare	FHHNCOI|familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement|idiopathic hypercalciuria with bilateral macular colobomata|FHHNC with severe ocular involvement|bilateral macular coloboma with hypercalciuria|HOMG5|hypomagnesemia, familial, with hypercalciuria, nephrocalcinosis, and severe ocular involvement|familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement|hypomagnesemia 5, renal, with ocular involvement; HOMG5|hypercalciuria-bilateral macular coloboma syndrome|hypomagnesemia, renal, with ocular involvement|hypomagnesemia 5, renal, with ocular involvement|Meier-Blumberg-Imahorn syndrome|macular coloboma, bilateral, with hypercalciuria|Meier Blumberg Imahorn syndrome	http://purl.obolibrary.org/obo/MONDO_0009548	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.	MESH:C536148|UMLS:C2931121|http://identifiers.org/omim/248190|DOID:0060881|ORPHA:2196
MONDO:0009547	macrosomia-microphthalmia-cleft palate syndrome	biolink:Disease	mondo	UMLS:C1855467|OMIM:248110|Orphanet:2432|GARD:0000177|MESH:C537830|ICD10:Q87.0	ordo_malformation_syndrome|gard_rare	macrosomia microphthalmia cleft palate|macrosomia with microphthalmia, lethal|Teebi-Al Saleh-Hassoon syndrome|macrosomia with lethal microphthalmia|Teebi Al-Saleh Hassoon syndrome	http://purl.obolibrary.org/obo/MONDO_0009547	Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989.	MESH:C537830|UMLS:C1855467|http://identifiers.org/omim/248110|ORPHA:2432
MONDO:0010536	tubulin, beta	biolink:Disease	mondo	OMIM:301850		tubulin, beta	http://purl.obolibrary.org/obo/MONDO_0010536		http://identifiers.org/omim/301850
MONDO:0010535	Bazex-Dupre-Christol syndrome	biolink:Disease	mondo	SCTID:254820002|OMIM:301845|GARD:0000838|Orphanet:113|ICD10:L98.8	ordo_disease	BDCS|Bazex syndrome; BZX|follicular atrophoderma-basocellular proliferations-hypotrichosis syndrome|follicular atrophoderma and basal cell carcinomas|follicular atrophoderma-basal cell carcinoma syndrome|Bazex-Dupre-Christol syndrome|BZX|Bazex-Dupré-Christol syndrome|Bazex syndrome	http://purl.obolibrary.org/obo/MONDO_0010535	Bazex-Dupre-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas.	UMLS:C0346104|http://identifiers.org/omim/301845|ORPHA:113|MESH:C537663|SNOMEDCT:254820002
MONDO:0009546	macrosomia adiposa congenita	biolink:Disease	mondo	OMIM:248100|UMLS:C1855468|MESH:C565425		macrosomia adiposa congenita	http://purl.obolibrary.org/obo/MONDO_0009546		MESH:C565425|UMLS:C1855468|http://identifiers.org/omim/248100
MONDO:0009545	macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance	biolink:Disease	mondo	UMLS:C2931597|MESH:C537721|OMIM:248010|GARD:0000173	gard_rare	Macroepiphyseal dysplasia, McAlister coe type|macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance|McAlister coe Whyte syndrome	http://purl.obolibrary.org/obo/MONDO_0009545		MESH:C537721|http://identifiers.org/omim/248010|UMLS:C2931597
MONDO:0010538	Mononen-Karnes-Senac syndrome	biolink:Disease	mondo	OMIM:301940|DOID:0110973|UMLS:C2931060|MESH:C535914|ICD10:Q87.5|Orphanet:2565|SCTID:733095006|GARD:0004886	ordo_malformation_syndrome|gard_rare	Mononen type brachydactyly|skeletal dysplasia brachydactyly|brachydactyly Mononen type|skeletal dysplasia-brachydactyly syndrome|short and abducted thumbs and great toes|brachydactyly, Mononen type|Mononen Karnes Senac syndrome|thumbs and great toes short and abducted|thumbs and great toes, short and abducted	http://purl.obolibrary.org/obo/MONDO_0010538	Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested.	UMLS:C2931060|DOID:0110973|MESH:C535914|http://identifiers.org/omim/301940|ORPHA:2565|SNOMEDCT:733095006
MONDO:0010537	Borjeson-Forssman-Lehmann syndrome	biolink:Disease	mondo	ICD10:Q87.8|UMLS:C0265339|MESH:C536575|ICD9:759.89|DOID:0050681|GARD:0000936|OMIM:301900|Orphanet:127|SCTID:21634003	ordo_malformation_syndrome|gard_rare	mental retardation, epilepsy, and endocrine disorder|intellectual disability-epilepsy-endocrine disorders syndrome|intellectual deficiency-epilepsy-endocrine disorders syndrome|mental deficiency, epilepsy and endocrine disorders|syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type|mental retardation, epilepsy, and endocrine disorders|intellectual disability, X-linked, syndromic, Borjeson-Forssman-Lehmann type|intellectual disability, epilepsy, and endocrine disorders|MRXSBFL|intellectual disability, epilepsy, and endocrine disorder|Borjeson-FORSSMAN-Lehmann syndrome; BFLS|Borjeson-Forssman-Lehmann syndrome|BFLS|BORJ|Borjeson syndrome|syndromic X-linked intellectual disability Borjeson-Forssman-Lehmann type|mental retardation, X-linked, syndromic, Borjeson-Forssman-Lehmann type	http://purl.obolibrary.org/obo/MONDO_0010537	Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.	SNOMEDCT:21634003|http://identifiers.org/omim/301900|ORPHA:127|UMLS:C0265339|DOID:0050681|MESH:C536575
MONDO:0009544	macrocephaly/megalencephaly syndrome, autosomal recessive	biolink:Disease	mondo	UMLS:C3806412|MESH:C537453|OMIM:248000|GARD:0000148	gard_rare	macrocephaly/megalencephaly syndrome, autosomal recessive|mental retardation, macrocephaly, short stature and craniofacial dysmorphism|Fryns Dereymaeker Haegeman syndrome|macrocephaly/megalencephaly syndrome, autosomal recessive; MGCPH|MGCPH|intellectual disability, macrocephaly, short stature and craniofacial dysmorphism	http://purl.obolibrary.org/obo/MONDO_0009544		http://identifiers.org/omim/248000|UMLS:C3806412|MESH:C537453
MONDO:0009543	prominent glabella-microcephaly-hypogenitalism syndrome	biolink:Disease	mondo	GARD:0000144|Orphanet:2083|ICD10:Q87.8|OMIM:247990|UMLS:C0796024|MESH:C537714	gard_rare|ordo_malformation_syndrome	MacDermot-Winter syndrome|Mac Dermot Winter syndrome|prominent glabella microcephaly hypogenitalism	http://purl.obolibrary.org/obo/MONDO_0009543	Prominent glabella B microcephaly B hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.	MESH:C537714|UMLS:C0796024|ORPHA:2083|http://identifiers.org/omim/247990
MONDO:0010539	X-linked mandibulofacial dysostosis	biolink:Disease	mondo	ICD10:Q75.4|MESH:C537102|GARD:0001002|OMIM:301950|SCTID:719813003|Orphanet:1131|UMLS:C1844918	ordo_malformation_syndrome	mandibulofacial dysostosis, Toriello type|branchial arch syndrome X-linked|X-linked branchial arch syndrome|mandibulofacial dysostosis, X-linked|mandibulofacial dysostosis Toriello type|branchial arch syndrome, X-linked|MFD Toriello type|X-linked mandibulofacial dysostosis with limb anomalies	http://purl.obolibrary.org/obo/MONDO_0010539	X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.	SNOMEDCT:719813003|http://identifiers.org/omim/301950|ORPHA:1131|MESH:C537102|UMLS:C1844918
MONDO:0009542	lysine malabsorption syndrome	biolink:Disease	mondo	MESH:C563080|UMLS:C0796023|OMIM:247950		lysine malabsorption syndrome	http://purl.obolibrary.org/obo/MONDO_0009542		MESH:C563080|UMLS:C0796023|http://identifiers.org/omim/247950
MONDO:0009541	lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis	biolink:Disease	mondo	UMLS:C1855470|MESH:C565427|OMIM:247800		lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0009541		MESH:C565427|UMLS:C1855470|http://identifiers.org/omim/247800
MONDO:0009540	chronic mucocutaneous candidiasis due to lymphokine deficiency	biolink:Disease	mondo	OMIM:247650|MESH:C565428|UMLS:C1855471		lymphokine deficiency	http://purl.obolibrary.org/obo/MONDO_0009540		UMLS:C1855471|http://identifiers.org/omim/247650|MESH:C565428
NCBITaxon:53527	Culex <subgenus>	organism taxon	mondo	GC_ID:1		Culex	http://purl.obolibrary.org/obo/NCBITaxon_53527		
MONDO:0010541	X-linked calvarial hyperostosis	biolink:Disease	mondo	ICD10:M85.2|OMIM:302030|GARD:0001058|MESH:C537963|Orphanet:391327	ordo_disease	calvarial hyperostosis|isolated hyperostosis of the calvarium	http://purl.obolibrary.org/obo/MONDO_0010541		ORPHA:391327|MESH:C537963|http://identifiers.org/omim/302030
MONDO:0010540	bullous dystrophy, macular type	biolink:Disease	mondo	OMIM:302000|Orphanet:1867|ICD10:Q81.8|GARD:0001038|MESH:C563065|UMLS:C0795974	gard_rare|ordo_disease	epidermolysis bullosa, macular type|epidermolysis bullosa macular type|EBM|bullous dystrophy hereditary macular type|bullous dystrophy, hereditary macular type	http://purl.obolibrary.org/obo/MONDO_0010540	Bullous dystrophy, macular type is a genetic disorder characterised by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family.	UMLS:C0795974|ORPHA:1867|MESH:C563065|http://identifiers.org/omim/302000
MONDO:0010543	Barth syndrome	biolink:Disease	mondo	GARD:0005890|SCTID:297231002|UMLS:C0574083|ICD10:E78.71|DOID:0050476|MESH:D056889|OMIM:302060|ICD10:E71.1|Orphanet:111|NCIT:C84585	gard_rare|ordo_disease	Barth syndrome|X-linked cardioskeletal myopathy and neutropenia|Mga, type 2|3-methylglutaconic aciduria type 2|cardioskeletal myopathy with neutropenia and abnormal mitochondria|TAZ defect|MGA type 2|MGA2|cardioskeletal myopathy-neutropenia syndrome|3-methylglutaconic aciduria type II|3-Methylglutaconicaciduria type 2|3-Methylglutaconicaciduria type II|BTHS|BARTH syndrome; BTHS|MGA type II|3-Methylglutaconic aciduria, type 2	http://purl.obolibrary.org/obo/MONDO_0010543	Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.	UMLS:C0574083|NCIT:C84585|ORPHA:111|MESH:D056889|DOID:0050476|http://identifiers.org/omim/302060|SNOMEDCT:297231002
MONDO:0010542	dilated cardiomyopathy 3B	biolink:Disease	mondo	OMIM:302045|MESH:C580047|DOID:0110461|SCTID:702424003|ICD10:I42.0|ICD9:425.4|DOID:0060561|UMLS:C3668940		cardiomyopathy, dilated, type 3B|cardiomyopathy, dilated, 3B|CMD3B|X-linked dilated cardiomyopathy|dilated cardiomyopathy caused by mutation in DMD|DMD-related dilated cardiomyopathy|DMD dilated cardiomyopathy|dilated cardiomyopathy type 3B|cardiomyopathy, dilated, 3B; CMD3B|cardiomyopathy, dilated, X-linked	http://purl.obolibrary.org/obo/MONDO_0010542	Any dilated cardiomyopathy in which the cause of the disease is a mutation in the DMD gene.	SNOMEDCT:702424003|UMLS:C3668940|MESH:C580047|DOID:0110461|http://identifiers.org/omim/302045|DOID:0060561
MONDO:0010545	Nance-Horan syndrome	biolink:Disease	mondo	ICD9:759.89|ICD10:Q87.0|MESH:C538336|SCTID:445257004|OMIM:302350|GARD:0007161|DOID:0060599|Orphanet:627|UMLS:C0796085	ordo_malformation_syndrome|gard_rare	cataract-dental syndrome|Nance-Horan syndrome; NHS|cataract X-linked with Hutchinsonian teeth|Nance-Horan syndrome|Mesiodens cataract syndrome|cataract, X-linked, with Hutchinsonian teeth|cataract dental syndrome|Mesiodens-cataract syndrome|NHS	http://purl.obolibrary.org/obo/MONDO_0010545	Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism.	http://identifiers.org/omim/302350|UMLS:C0796085|MESH:C538336|SNOMEDCT:445257004|ORPHA:627|DOID:0060599
MONDO:0010544	cataract 40	biolink:Disease	mondo	OMIM:302200|GARD:0008278|DOID:0110272|MESH:C535338|ICD10:Q12.0		CTRCT40|cataract 40|NHS early-onset non-syndromic cataract|cataract 40 X-linked|cataract congenital X-linked|early-onset non-syndromic cataract caused by mutation in NHS|cataract, congenital, with microcornea or slight microphthalmia|cataract 40, X-linked|cataract type 40|cataract 40; CTRCT40|cataract, congenital, X-linked|cataract 40 with or without microcornea|cataract, congenital total, with posterior sutural opacities in heterozygotes	http://purl.obolibrary.org/obo/MONDO_0010544	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the NHS gene.	MESH:C535338|DOID:0110272|http://identifiers.org/omim/302200
UBERON:0006183	mesonephric glomerular capillary	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006183	.	
MONDO:0022518	autoimmune inner ear disease	biolink:Disease	mondo	GARD:0008582	gard_rare	AIED	http://purl.obolibrary.org/obo/MONDO_0022518	A syndrome characterized by rapidly progressive sensorineural hearing loss (SNHL), that is often bilateral, and is potentially reversible.	
MONDO:0022519	autoimmune myocarditis	biolink:Disease	mondo	GARD:0009519	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022519	Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. The exact underlying cause of the condition is currently unknown; however, autoimmune conditions, in general, occur when the immune system mistakenly attacks healthy tissue. Treatment is based on the signs and symptoms present in each person. In some cases, medications that suppress the immune system may be recommended.	
MONDO:0022510	atlanto-axial fusion	biolink:Disease	mondo	MESH:C538196|GARD:0009219	gard_rare	atlantoaxial fusion|atlantoaxial joint fusion	http://purl.obolibrary.org/obo/MONDO_0022510		MESH:C538196
UBERON:0018154	ligament of middle ear	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0018154	A ligament that is part of a middle ear.	
MONDO:0022512	obsolete atrial septal defect coronary sinus	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0022512		
UBERON:0018151	skin of upper lip	biolink:AnatomicalEntity	mondo			upper lip skin	http://purl.obolibrary.org/obo/UBERON_0018151	A zone of skin that is part of a upper lip.	
MONDO:0022513	atrophoderma of Pierini and Pasini	biolink:Disease	mondo	SCTID:711524008|ICD10:L90.3|GARD:0005866	gard_rare	idiopathic atrophoderma of Pasini and Pierini|congenital atrophoderma of Pasini and Pierini	http://purl.obolibrary.org/obo/MONDO_0022513	Atrophoderma of Pierini and Pasini is thought to possibly represent a late stage of morphea a type of localized scleroderma. Signs and symptoms ofatrophoderma of Pierini and Pasini include multiple oval, darkened (hyperpigmented) plaques in which tissue under the skin breaks downso that there is a depression (dent) within the skin. Some findings suggest that atrophoderma of Pierini and Pasini may be associated with B burgdorferi, a bacteria that causesLyme disease, in some cases.	SNOMEDCT:711524008
MONDO:0009559	mandibulofacial dysostosis with mental deficiency	biolink:Disease	mondo	OMIM:248400|MESH:C565420|UMLS:C1855432		mandibulofacial dysostosis with intellectual disability|mandibulofacial dysostosis with mental retardation|mandibulofacial dysostosis with mental deficiency	http://purl.obolibrary.org/obo/MONDO_0009559		UMLS:C1855432|MESH:C565420|http://identifiers.org/omim/248400
MONDO:0010525	neural tube defects, X-linked	biolink:Disease	mondo	OMIM:301410|UMLS:C1845026|GARD:0000669|MESH:C536359	gard_rare	X-linked anencephaly/spina bifida|anencephaly and spina bifida X-linked|neural tube defects, X-linked|spina bifida, X-linked	http://purl.obolibrary.org/obo/MONDO_0010525		http://identifiers.org/omim/301410|UMLS:C1845026|MESH:C536359
MONDO:0009558	Treacher Collins syndrome 3	biolink:Disease	mondo	GARD:0009125|MESH:C535707|OMIM:248390	gard_rare	Treacher-Collins syndrome caused by mutation in POLR1C|TCS3|TREACHER COLLINS syndrome 3; TCS3|Treacher Collins syndrome 3|mandibulofacial dysostosis, Treacher Collins type, autosomal recessive|POLR1C Treacher-Collins syndrome|Treacher Collins syndrome type 3	http://purl.obolibrary.org/obo/MONDO_0009558	Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1C gene.	MESH:C535707|http://identifiers.org/omim/248390
MONDO:0009557	mandibuloacral dysplasia with type A lipodystrophy	biolink:Disease	mondo	UMLS:CN236772|OMIM:248370|NCIT:C123417|ICD10:Q87.5|MESH:C535705|GARD:0003374|SCTID:109419009|UMLS:CN206381|Orphanet:90153	gard_rare|ordo_clinical_subtype	mandibuloacral dysplasia with type A lipodystrophy|lipodystrophy, type A, associated with Mandibuloacral dysplasia|craniomandibular Dermatodysostosis|MANDIBULOACRAL dysplasia with type A lipodystrophy; MADA|Mandibuloacral dysplasia with type a lipodystrophy, atypical|MADA	http://purl.obolibrary.org/obo/MONDO_0009557	A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk.	UMLS:CN206381|MESH:C535705|UMLS:CN236772|http://identifiers.org/omim/248370|SNOMEDCT:109419009|NCIT:C123417|ORPHA:90153
MONDO:0010524	X-linked sideroblastic anemia with ataxia	biolink:Disease	mondo	DOID:0060064|UMLS:C4304338|OMIM:301310|SCTID:719816006|UMLS:C1845028|ICD10:D64.0|GARD:0000668|Orphanet:2802|DOID:0050554|MESH:C536358	ordo_disease	XLSA-A|ASAT|sideroblastic anemia with spinocerebellar ataxia|X-linked sideroblastic anemia with spinocerebellar ataxia|anemia, sideroblastic, and spinocerebellar ataxia; ASAT|anemia sideroblastic and spinocerebellar ataxia|X-linked sideroblastic anemia and ataxia|X-linked sideroblastic anemia and spinocerebellar ataxia|X-linked sideroblastic anemia with ataxia|X-linked sideroblastic Anemia and ataxia|anemia, Sex-linked hypochromic Siderobla|anemia, sideroblastic, and spinocerebellar ataxia|Pagon Bird Detter syndrome|Xlsa-A|Pagon-Bird-Detter syndrome	http://purl.obolibrary.org/obo/MONDO_0010524	X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.	DOID:0060064|SNOMEDCT:719816006|http://identifiers.org/omim/301310|UMLS:C1845028|ORPHA:2802|UMLS:C4304338|MESH:C536358|DOID:0050554
UBERON:0006170	mesonephric capsule	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006170	The mesonephric capsule is the tough fibrous layer surrounding the mesonephros, covered in a thick layer of perinephric adipose tissue.	
MONDO:0010527	microphthalmia-ankyloblepharon-intellectual disability syndrome	biolink:Disease	mondo	SCTID:717222003|ICD10:Q11.2|GARD:0005066|OMIM:301590|Orphanet:85275|MESH:C564457	gard_rare|ordo_malformation_syndrome	microphthalmia, syndromic 4; MCOPS4|microphthalmia with ankyloblepharon and mental retardation|microphthalmia syndromic 4|microphthalmia, syndromic 4|syndromic microphthalmia type 4|MCOPS4|microphthalmia with ankyloblepharon and intellectual disability|Anop1, formerly|Anop1	http://purl.obolibrary.org/obo/MONDO_0010527	Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait.	MESH:C564457|http://identifiers.org/omim/301590|SNOMEDCT:717222003|ORPHA:85275
MONDO:0009556	malonic aciduria	biolink:Disease	mondo	SCTID:361203007|UMLS:C0342793|OMIM:248360|ICD10:E72.8|MESH:C535702|GARD:0003371|Orphanet:943	ordo_disease	malonic acidemia|MCD deficiency|malonyl-CoA decarboxylase deficiency|Malonicaciduria	http://purl.obolibrary.org/obo/MONDO_0009556	Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).	ORPHA:943|MESH:C535702|UMLS:C0342793|SNOMEDCT:361203007|http://identifiers.org/omim/248360
MONDO:0009555	malocclusion and short stature	biolink:Disease	mondo	MESH:C565421|OMIM:248350|UMLS:C1855453		malocclusion and short stature	http://purl.obolibrary.org/obo/MONDO_0009555		MESH:C565421|UMLS:C1855453|http://identifiers.org/omim/248350
MONDO:0010526	Fabry disease	biolink:Disease	mondo	UMLS:C0002986|NCIT:C84701|DOID:14499|GARD:0006400|SCTID:16652001|ICD10:E75.2|Orphanet:324|MESH:D000795|MedDRA:10016016|OMIM:301500|ICD10:E75.21	ordo_disease|clingen	Fd|Anderson-Fabry disease|ceramide trihexosidase deficiency|deficiency of melibiase|diffuse angiokeratoma|Alpha-galactosidase A deficiency|hereditary dystopic lipidosis|alpha galactosidase deficiency|Fabry disease, Cardiac variant|Fabry disease|angiokeratoma, diffuse|angiokeratoma corporis diffusum|Gla deficiency|Fabry's disease	http://purl.obolibrary.org/obo/MONDO_0010526	Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.	NCIT:C27528|SNOMEDCT:16652001|http://identifiers.org/omim/301500|NCIT:C84701|UMLS:C0002986|ORPHA:324|MEDDRA:10016016|MESH:D000795|DOID:14499
MONDO:0010529	X-linked spinocerebellar ataxia type 3	biolink:Disease	mondo	UMLS:C1844936|OMIM:301790|Orphanet:85297|GARD:0009981|SCTID:719817002|MESH:C537315|ICD10:G11.1	ordo_malformation_syndrome|gard_rare	X-linked ataxia-deafness syndrome|spinocerebellar ataxia X-linked type 3|spinocerebellar ataxia, X-linked 3|ataxia-deafness syndrome X-linked|Scax3|ataxia-deafness syndrome, X-linked|SCAX3|spinocerebellar ataxia, X-linked type 3	http://purl.obolibrary.org/obo/MONDO_0010529	X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait.	UMLS:C1844936|SNOMEDCT:719817002|http://identifiers.org/omim/301790|MESH:C537315|ORPHA:85297
MONDO:0009554	3MC syndrome 3	biolink:Disease	mondo	Orphanet:2453|UMLS:C0796032|MESH:C535704|OMIM:248340|DOID:0060577		3MC syndrome caused by mutation in COLEC10|3MC syndrome type 3|3MC3|facial clefting syndrome, Gypsy type|3Mc syndrome type 3|COLEC10 3MC syndrome|3MC syndrome 3|3MC syndrome 3; 3MC3|Malpuech Facial clefting syndrome, formerly|Malpuech Facial clefting syndrome	http://purl.obolibrary.org/obo/MONDO_0009554	Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC10 gene.	MESH:C535704|DOID:0060577|http://identifiers.org/omim/248340|UMLS:C0796032|ORPHA:2453
MONDO:0010528	anosmia (disease)	biolink:Disease	mondo	HP:0000458|MESH:D000857|OMIM:301700		anosmia	http://purl.obolibrary.org/obo/MONDO_0010528	Loss of or impaired ability to smell. This may be caused by olfactory nerve diseases; paranasal sinus diseases; viral respiratory tract infections; craniocerebral trauma; smoking; and other conditions.	MESH:D000857|http://identifiers.org/omim/301700
MONDO:0009553	Plasmodium falciparum blood infection level	biolink:Disease	mondo	OMIM:248310		Plasmodium falciparum parasitemia|Pfbi|Plasmodium falciparum blood infection level	http://purl.obolibrary.org/obo/MONDO_0009553		http://identifiers.org/omim/248310
MONDO:0009552	mal de Meleda	biolink:Disease	mondo	Orphanet:87503|ICD10:Q82.8|OMIM:248300|SCTID:239069005|UMLS:C0025221|GARD:0000092|ICD9:757.39|DOID:0060862	gard_rare|ordo_disease	MDM|Meleda disease|MAL DE Meleda; MDM|transgrediens palmoplantar keratoderma of Siemens|keratosis palmoplantaris transgrediens of Siemens|mal de Meleda|keratosis palmoplantaris transgradiens of Siemens	http://purl.obolibrary.org/obo/MONDO_0009552	Mal de Melada (MdM) is a diffuse palmoplantar keratoderma initially reported from of the Island of Meleda characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgradiens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema.	DOID:0060862|http://identifiers.org/omim/248300|ORPHA:87503|UMLS:C0025221|SNOMEDCT:239069005
GO:1905123	regulation of glucosylceramidase activity	biolink:OntologyClass	mondo			regulation of glucocerebrosidase activity|regulation of beta-D-glucocerebrosidase activity|regulation of glucosphingosine glucosylhydrolase activity|regulation of psychosine hydrolase activity|regulation of GlcCer-beta-glucosidase activity|regulation of glucosylsphingosine beta-glucosidase activity|regulation of beta-glucocerebrosidase activity|regulation of beta-glucosylceramidase activity|regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|regulation of glucosylcerebrosidase activity|regulation of ceramide glucosidase activity|regulation of glucosylsphingosine beta-D-glucosidase activity|regulation of GCase activity|regulation of acid beta-glucosidase activity	http://purl.obolibrary.org/obo/GO_1905123	Any process that modulates the frequency, rate or extent of glucosylceramidase activity.	
GO:1905124	negative regulation of glucosylceramidase activity	biolink:OntologyClass	mondo			down-regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|negative regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|down regulation of acid beta-glucosidase activity|down-regulation of psychosine hydrolase activity|negative regulation of psychosine hydrolase activity|inhibition of glucosylcerebrosidase activity|down-regulation of glucosylsphingosine beta-glucosidase activity|down-regulation of glucosylcerebrosidase activity|down regulation of glucosylceramidase activity|negative regulation of glucosylsphingosine beta-glucosidase activity|negative regulation of glucosylcerebrosidase activity|down regulation of glucosphingosine glucosylhydrolase activity|inhibition of glucocerebrosidase activity|down regulation of beta-D-glucocerebrosidase activity|downregulation of glucocerebrosidase activity|inhibition of acid beta-glucosidase activity|negative regulation of acid beta-glucosidase activity|down-regulation of acid beta-glucosidase activity|down regulation of psychosine hydrolase activity|negative regulation of GCase activity|downregulation of GlcCer-beta-glucosidase activity|inhibition of beta-D-glucocerebrosidase activity|down regulation of glucosylsphingosine beta-glucosidase activity|inhibition of glucosphingosine glucosylhydrolase activity|downregulation of beta-glucocerebrosidase activity|negative regulation of beta-D-glucocerebrosidase activity|down-regulation of beta-D-glucocerebrosidase activity|inhibition of glucosylceramidase activity|downregulation of glucosphingosine glucosylhydrolase activity|downregulation of glucosylceramidase activity|down-regulation of ceramide glucosidase activity|negative regulation of ceramide glucosidase activity|downregulation of psychosine hydrolase activity|inhibition of psychosine hydrolase activity|down-regulation of glucosylsphingosine beta-D-glucosidase activity|inhibition of glucosylsphingosine beta-glucosidase activity|down regulation of GlcCer-beta-glucosidase activity|downregulation of glucosylsphingosine beta-glucosidase activity|downregulation of beta-glucosylceramidase activity|negative regulation of glucosylsphingosine beta-D-glucosidase activity|down regulation of beta-glucocerebrosidase activity|downregulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|down regulation of ceramide glucosidase activity|downregulation of glucosylcerebrosidase activity|inhibition of GlcCer-beta-glucosidase activity|negative regulation of glucocerebrosidase activity|down regulation of glucosylsphingosine beta-D-glucosidase activity|inhibition of beta-glucocerebrosidase activity|down-regulation of glucocerebrosidase activity|negative regulation of GlcCer-beta-glucosidase activity|down-regulation of GlcCer-beta-glucosidase activity|downregulation of acid beta-glucosidase activity|down-regulation of beta-glucocerebrosidase activity|negative regulation of beta-glucocerebrosidase activity|down regulation of beta-glucosylceramidase activity|down regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|down-regulation of glucosylceramidase activity|inhibition of beta-glucosylceramidase activity|down-regulation of glucosphingosine glucosylhydrolase activity|inhibition of ceramide glucosidase activity|downregulation of ceramide glucosidase activity|negative regulation of glucosphingosine glucosylhydrolase activity|down regulation of glucosylcerebrosidase activity|downregulation of beta-D-glucocerebrosidase activity|down regulation of glucocerebrosidase activity|negative regulation of beta-glucosylceramidase activity|inhibition of D-glucosyl-N-acylsphingosine glucohydrolase activity|inhibition of glucosylsphingosine beta-D-glucosidase activity|down-regulation of beta-glucosylceramidase activity|downregulation of glucosylsphingosine beta-D-glucosidase activity	http://purl.obolibrary.org/obo/GO_1905124	Any process that stops, prevents or reduces the frequency, rate or extent of glucosylceramidase activity.	
MONDO:0009551	magnesium, elevated red cell	biolink:Disease	mondo	OMIM:248260		magnesium, elevated red cell	http://purl.obolibrary.org/obo/MONDO_0009551		http://identifiers.org/omim/248260
MONDO:0009550	renal hypomagnesemia 3	biolink:Disease	mondo	DOID:0060880|OMIM:248250|MESH:C537153|SCTID:725033008|ICD10:E83.4|Orphanet:31043	ordo_disease	renal hypomagnesemia type 3|CLDN16 primary hypomagnesemia|hypercalciuria, childhood, self-limiting|isolated renal hypomagnesemia|hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis|familial primary hypomagnesemia caused by mutation in CLDN16|familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement|magnesium, defect in renal tubular transport of|primary hypomagnesemia caused by mutation in CLDN16|hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis hypercalciuria, childhood, self-limiting, included|FHHNC without severe ocular involvement|hypomagnesemia 3, renal; HOMG3|hypomagnesemia, primary, due to defect in renal tubular Transport Of magnesium|HOMG3|primary hypomagnesemia due to defect in renal tubular transport of magnesium|hypomagnesemia, primary, due to defect in renal tubular Transport of magnesium|CLDN16 familial primary hypomagnesemia|hypomagnesemia, isolated renal|hypomagnesemia 3, renal	http://purl.obolibrary.org/obo/MONDO_0009550	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.	DOID:0060880|http://identifiers.org/omim/248250|MESH:C537153|ORPHA:31043|SNOMEDCT:725033008
GO:1905114	cell surface receptor signaling pathway involved in cell-cell signaling	biolink:OntologyClass	mondo			cell surface receptor linked signal transduction involved in cell-cell signaling|cell surface receptor linked signalling pathway involved in cell-cell signalling|cell surface receptor linked signaling pathway involved in cell-cell signaling|cell surface receptor linked signaling pathway involved in cell-cell signalling|cell surface receptor signaling pathway involved in cell-cell signalling|cell surface receptor linked signal transduction involved in cell-cell signalling|cell surface receptor linked signalling pathway involved in cell-cell signaling	http://purl.obolibrary.org/obo/GO_1905114	Any cell surface receptor signaling pathway that is involved in cell-cell signaling.	
MONDO:0010530	obsolete anus, imperforate	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0010530		
MONDO:0010532	infantile-onset X-linked spinal muscular atrophy	biolink:Disease	mondo	SCTID:719836007|MESH:C535380|UMLS:C1844934|OMIM:301830|Orphanet:1145|GARD:0008521|ICD10:G12.1	ordo_disease	SMAX2|X-linked spinal muscular atrophy type 2|spinal muscular atrophy, X-linked 2; SMAX2|arthrogryposis, X-linked, type 1|spinal muscular atrophy, X-linked 2|spinal muscular atrophy, X-linked lethal infantile|AMC, distal, X-linked|spinal muscular atrophy, X-linked type 2|spinal muscular atrophy with arthrogryposis|spinal muscular atrophy, infantile X-linked|X-linked distal arthrogryposis multiplex congenita|arthrogryposis multiplex congenita, distal, X-linked	http://purl.obolibrary.org/obo/MONDO_0010532	A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.	http://identifiers.org/omim/301830|ORPHA:1145|SNOMEDCT:719836007|UMLS:C1844934|MESH:C535380
UBERON:0006175	pronephric distal tubule	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006175		
MONDO:0010531	contractures-ectodermal dysplasia-cleft lip/palate syndrome	biolink:Disease	mondo	SCTID:720746006|ICD10:Q87.8|OMIM:301815|GARD:0001515|Orphanet:1484	ordo_malformation_syndrome	Ladda Zonana Ramer syndrome|Ladda-Zonana-Ramer syndrome|contractures ectodermal dysplasia cleft lip palate|congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment|arthrogryposis, ectodermal dysplasia, cleft LIP/palate, and developmental delay	http://purl.obolibrary.org/obo/MONDO_0010531	Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia.	SNOMEDCT:720746006|UMLS:C2931745|http://identifiers.org/omim/301815|MESH:C538135|ORPHA:1484|UMLS:C1844935|MESH:C535465
MONDO:0010534	X-linked spinocerebellar ataxia type 4	biolink:Disease	mondo	SCTID:719818007|UMLS:C1844933|ICD10:G11.1|OMIM:301840|GARD:0009980|MESH:C537316|Orphanet:85292	gard_rare|ordo_disease	X-linked ataxia-dementia syndrome|spinocerebellar ataxia, X-linked 4|ataxia-dementia syndrome, X-linked|Scax4|ataxia-dementia syndrome X-linked|SCAX4|spinocerebellar ataxia X-linked type 4|spinocerebellar ataxia, X-linked type 4	http://purl.obolibrary.org/obo/MONDO_0010534	Spinocerebellar ataxia, X-linked, type 4 is characterised by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life.	http://identifiers.org/omim/301840|MESH:C537316|ORPHA:85292|SNOMEDCT:719818007|UMLS:C1844933
UBERON:0006173	pronephric proximal tubule	biolink:AnatomicalEntity	mondo			pronephros proximal tubule	http://purl.obolibrary.org/obo/UBERON_0006173		
MONDO:0010533	Arts syndrome	biolink:Disease	mondo	Orphanet:1187|MESH:C535388|SCTID:702441001|ICD9:277.2|OMIM:301835|DOID:0050647|UMLS:C0796028|ICD10:E79.8|GARD:0008756	ordo_disease|clingen|gard_rare	MRXS18|intellectual disability, X-linked, syndromic 18|ataxia, fatal X-linked, with deafness and loss of vision|intellectual disability, X-linked, syndromic, Arts type|fatal X-linked ataxia with deafness and loss of vision|Arts syndrome|Arts syndrome; Arts|MRXSARTS|syndromic X-linked intellectual disability 18|syndromic X-linked mental retardation 18|mental retardation, X-linked, syndromic 18|Arts|X-linked fatal ataxia with deafness and loss of vision|mental retardation, X-linked, syndromic, Arts type|syndromic X-linked intellectual disability Arts type|lethal ataxia with deafness and optic atrophy|syndromic X-linked mental retardation Arts type|lethal ataxia-deafness-optic atrophy	http://purl.obolibrary.org/obo/MONDO_0010533	Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.	SNOMEDCT:702441001|UMLS:C0796028|http://identifiers.org/omim/301835|ORPHA:1187|DOID:0050647|MESH:C535388
MONDO:0022504	arthrogryposis spinal muscular atrophy	biolink:Disease	mondo	GARD:0000795	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022504		
UBERON:0018150	skin of lower lip	biolink:AnatomicalEntity	mondo			lower lip skin	http://purl.obolibrary.org/obo/UBERON_0018150	A zone of skin that is part of a lower lip.	
MONDO:0022509	asternia	biolink:Disease	mondo	GARD:0009221	gard_rare	absent sternum	http://purl.obolibrary.org/obo/MONDO_0022509	Asternia, also known as a complete congenital sternal cleft, is a condition in which a bone called thesternum does not form properly.The sternumusuallyconnects to the ribs to form the ribcage. Individuals with asternia are missing this bone and may appear to have a rut or trench under the skin in the middle of the chest. Most individuals with asternia have no symptoms, though some may have difficulty breathing. Asternia is sometimes associated with other conditions, such as heart problems. The cause of asternia is currently unknown. Treatment consists of surgery to close the gap between the ribs.	
UBERON:0006208	auditory hillocks	biolink:AnatomicalEntity	mondo			auditory hillock of Hiss|auditory tubercles|hillock of Hiss|auricular hillock	http://purl.obolibrary.org/obo/UBERON_0006208	A collection of protruberances derived from pharyngeal arches 1 and 2 that develop into the folds of the pinna and gradually shift upwards and backwards to their final position on the head.	
NCBITaxon:6685	Penaeidae	organism taxon	mondo	GC_ID:1		penaeid shrimps	http://purl.obolibrary.org/obo/NCBITaxon_6685		
UBERON:0006207	aortico-pulmonary spiral septum	biolink:AnatomicalEntity	mondo			aortic septum|spiral septum|aortico-pulmonary septum|septum aorticopulmonale|aorticopulmonary septum	http://purl.obolibrary.org/obo/UBERON_0006207	The spiral septum that separates the truncus arteriosus into a ventral pulmonary trunk and the dorsal aorta[MP]. The aorticopulmonary septum is developmentally formed from neural crest, specifically the cardiac neural crest, and actively separates the aorta and pulmonary arteries and fuses with the interventricular septum within the heart during development. The actual mechanism of septation of the outflow tract is poorly understood, but is recognized as a dynamic process with contributions from contractile, hemodynamic, and extracellular matrix interactions.	
HGNC:4612	GSC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4612		
NCBITaxon:6684	Dendrobranchiata	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6684		
NCBITaxon:147389	Triticeae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_147389		
NCBITaxon:6683	Decapoda	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6683		
NCBITaxon:6682	Eucarida	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6682		
UBERON:0008861	pyloric gastric gland	biolink:AnatomicalEntity	mondo			glandula pylorica|pyloric mucuous gland|pyloric antrum gland|pyloric gland	http://purl.obolibrary.org/obo/UBERON_0008861	The gastric glands in the pyloric region of the stomach; the pyloric glands secrete mucin, which coats the stomach and protects it, and hormones such as gastrin and enkephalin[MP].	
NCBITaxon:6681	Malacostraca	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6681		
CHEBI:16294	barbituric acid	biolink:ChemicalSubstance	mondo			Barbitursaeure|Malonylurea|pyrimidine-2,4,6(1H,3H,5H)-trione|Barbituric acid|2,4,6(1H,3H,5H)-pyrimidinetrione|Malonylharnstoff	http://purl.obolibrary.org/obo/CHEBI_16294	A barbiturate, the structure of which is that of perhydropyrimidine substituted at C-2, -4 and -6 by oxo groups.  Barbituric acid is the parent compound of barbiturate drugs, although it is not itself pharmacologically active.	
GO:0006955	immune response	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0006955	Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat.	
GO:0006956	complement activation	biolink:OntologyClass	mondo			complement response|complement cascade|complement activity	http://purl.obolibrary.org/obo/GO_0006956	Any process involved in the activation of any of the steps of the complement cascade, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes; the initial steps of complement activation involve one of three pathways, the classical pathway, the alternative pathway, and the lectin pathway, all of which lead to the terminal complement pathway.	
GO:0006954	inflammatory response	biolink:OntologyClass	mondo			inflammation	http://purl.obolibrary.org/obo/GO_0006954	The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.	
NCBITaxon:147387	Poeae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_147387		
GO:0006952	defense response	biolink:OntologyClass	mondo			defense/immunity protein activity|antimicrobial peptide activity|defence response|physiological defense response	http://purl.obolibrary.org/obo/GO_0006952	Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack.	
NCBITaxon:6687	Penaeus monodon	organism taxon	mondo	GC_ID:1		black tiger shrimp|Penaeus durbani|Penaeus carinatus|giant tiger prawn|Penaeus (Penaeus) monodon|tiger prawn|Penaeus bubulus	http://purl.obolibrary.org/obo/NCBITaxon_6687		
GO:0006950	response to stress	biolink:OntologyClass	mondo			response to biotic stress|response to abiotic stress	http://purl.obolibrary.org/obo/GO_0006950	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation).	
GO:0043902	positive regulation of multi-organism process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0043902	Any process that activates or increases the frequency, rate or extent of a multi-organism process, a process in which an organism has an effect on another organism of the same or different species.	
GO:0043901	negative regulation of multi-organism process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0043901	Any process that stops, prevents, or reduces the frequency, rate or extent of a multi-organism process, a process in which an organism has an effect on another organism of the same or different species.	
GO:0043903	regulation of biological process involved in symbiotic interaction	biolink:OntologyClass	mondo			regulation of symbiotic process|regulation of symbiosis, encompassing mutualism through parasitism|regulation of interspecies interactions between organisms	http://purl.obolibrary.org/obo/GO_0043903	Any process that modulates the frequency, rate or extent of symbiosis, an interaction between two organisms living together in more or less intimate association.	
UBERON:0008856	stomach muscularis externa	biolink:AnatomicalEntity	mondo			muscle layer of stomach|gastric muscularis|tunica muscularis (gaster)|muscularis externa of stomach|tunica muscularis gastris	http://purl.obolibrary.org/obo/UBERON_0008856	The smooth muscle layer of the stomach wall that functions to churn and mix food and gastric secretions as well as to move food along the digestive tract to the intestines	
UBERON:0008858	pyloric canal	biolink:AnatomicalEntity	mondo			canalis pyloricus|canalis pyloricus	http://purl.obolibrary.org/obo/UBERON_0008858	The short narrow part of the stomach extending from the pyloric antrum to the pyloric sphincter	
UBERON:0008859	cardiac gastric gland	biolink:AnatomicalEntity	mondo			gastric cardiac gland|glandula cardiaca (gaster)|cardiac gland|gastric gland of cardia|gastric cardiac mucuous gland|gardiac gland	http://purl.obolibrary.org/obo/UBERON_0008859	A gastric gland in the cardiac region of the stomach; cardiac glands are fewer in number than in the fundus and body, and secrete mucin which coats the stomach and protects it[MP]	
GO:0043900	regulation of multi-organism process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0043900	Any process that modulates the frequency, rate or extent of a multi-organism process, a process in which an organism has an effect on another organism of the same or different species.	
HGNC:4624	GSS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4624		
NCBITaxon:6692	Pleocyemata	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6692		
HGNC:4620	GSN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4620		
GO:0006959	humoral immune response	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0006959	An immune response mediated through a body fluid.	
NCBITaxon:6690	Penaeus aztecus	organism taxon	mondo	GC_ID:1		Penaeus (Farfantepenaeus) aztecus|Farfantepenaeus aztecus|brown shrimp	http://purl.obolibrary.org/obo/NCBITaxon_6690		
NCBITaxon:6657	Crustacea	organism taxon	mondo	GC_ID:1		crustaceans|crustaceans	http://purl.obolibrary.org/obo/NCBITaxon_6657		
NCBITaxon:6656	Arthropoda	organism taxon	mondo	GC_ID:1		arthropods|arthropods	http://purl.obolibrary.org/obo/NCBITaxon_6656		
GO:0006921	cellular component disassembly involved in execution phase of apoptosis	biolink:OntologyClass	mondo			cellular component disassembly involved in apoptosis|cellular component disassembly involved in apoptotic process|disassembly of cell structures	http://purl.obolibrary.org/obo/GO_0006921	The breakdown of structures such as organelles, proteins, or other macromolecular structures during apoptosis.	
CHEBI:65256	antimicrobial food preservative	biolink:ChemicalSubstance	mondo			antimicrobial food preservatives|antimicrobial preservatives|antimicrobial preservative	http://purl.obolibrary.org/obo/CHEBI_65256	A food preservative which prevents decomposition of food by preventing the growth of fungi or bacteria. In European countries, E-numbers for permitted food preservatives are from E200 to E299, divided into sorbates (E200-209), benzoates (E210-219), sulfites (E220-229), phenols and formates (E230-239), nitrates (E240-259), acetates (E260-269), lactates (E270-279), propionates (E280-289) and others (E290-299).	
CHEBI:65255	food preservative	biolink:ChemicalSubstance	mondo			food preservatives	http://purl.obolibrary.org/obo/CHEBI_65255	Substances which are added to food in order to prevent decomposition caused by  microbial growth or by undesirable chemical changes.	
UBERON:0008843	gubernaculum testis	biolink:AnatomicalEntity	mondo			Hunter's gubernaculum|gubernaculum|male gubernaculum	http://purl.obolibrary.org/obo/UBERON_0008843	The fetal ligament attached to the inferior end of the epididymis and testis and, at its other end, to the bottom of the scrotum; it is present during, and is thought to guide, the descent of the testis into the scrotum and then atrophies.	
GO:0018904	ether metabolic process	biolink:OntologyClass	mondo			organic ether metabolic process|ether metabolism|organic ether metabolism	http://purl.obolibrary.org/obo/GO_0018904	The chemical reactions and pathways involving organic ethers, any anhydride of the general formula R1-O-R2, formed between two identical or nonidentical organic hydroxy compounds.	
UBERON:0008844	gubernaculum (female)	biolink:AnatomicalEntity	mondo			gubernaculum ovarii|female gubernaculum	http://purl.obolibrary.org/obo/UBERON_0008844	A gubernaculum that is part of a female reproductive system.	
UBERON:0008845	nonskeletal ligament	biolink:AnatomicalEntity	mondo			non-skeletal ligament|fibrous ligament	http://purl.obolibrary.org/obo/UBERON_0008845	A ligament that does not connect two skeletal elements.	
UBERON:0008846	skeletal ligament	biolink:AnatomicalEntity	mondo			articular ligament|articular larua|ligament|true ligament	http://purl.obolibrary.org/obo/UBERON_0008846	Dense regular connective tissue connecting two or more adjacent skeletal elements[VSAO,modified].	
NCBITaxon:147368	Pooideae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_147368		
NCBITaxon:89593	Craniata <chordates>	organism taxon	mondo	GC_ID:1		Craniata	http://purl.obolibrary.org/obo/NCBITaxon_89593		
GO:0006928	movement of cell or subcellular component	biolink:OntologyClass	mondo			cellular component motion|cell movement|cellular component movement	http://purl.obolibrary.org/obo/GO_0006928	The directed, self-propelled movement of a cell or subcellular component without the involvement of an external agent such as a transporter or a pore.	
GO:0006935	chemotaxis	biolink:OntologyClass	mondo			taxis in response to chemical stimulus	http://purl.obolibrary.org/obo/GO_0006935	The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis).	
UBERON:0008835	hepatic diverticulum	biolink:AnatomicalEntity	mondo			liver diverticulum|diverticulum hepaticum	http://purl.obolibrary.org/obo/UBERON_0008835	An out-pocket of thickened ventral foregut epithelium adjacent to the developing heart. Constitutes the first morphological sign of the embryonic liver. The anterior portion of the hepatic diverticulum gives rise to the liver and intrahepatic biliary tree, while the posterior portion forms the gall bladder and extrahepatic bile ducts.	
UBERON:0008836	liver bud	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0008836		
UBERON:0008837	palmar/plantar part of autopod	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0008837		
CHEBI:53212	isocyanates	biolink:ChemicalSubstance	mondo			iso-cyanates	http://purl.obolibrary.org/obo/CHEBI_53212	Organonitrogen compounds that are derivatives of isocyanic acid; compounds containing the isocyanate functional group -N=C=O (as opposed to the cyanate group, -O-C#N).	
MONDO:0009609	methylcobalamin deficiency type cblG	biolink:Disease	mondo	OMIM:250940|ICD10:E72.1|GARD:0003577|EFO:0005597|SCTID:721187005|Orphanet:2170|DOID:0050733|GARD:0002733	gard_rare|ordo_clinical_subtype	HMAG|homocystinuria-megaloblastic anemia, cblG complementation type|homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblG complementation type|functional methionine synthase deficiency type cblG|methylcobalamin deficiency Cbl G type|methylmalonic aciduria and homocystinuria type cblG|homocystinuria-megaloblastic anemia, cblG complementation type; HMAG|methionine synthase deficiency|methylcobalamin deficiency, cblG type|cblG|homocystinuria due to defect in methylation Cbl g	http://purl.obolibrary.org/obo/MONDO_0009609	Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine.	DOID:0050733|SNOMEDCT:721187005|ORPHA:2170|http://identifiers.org/omim/250940
GO:0006903	vesicle targeting	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0006903	The process in which vesicles are directed to specific destination membranes. Targeting involves coordinated interactions among cytoskeletal elements (microtubules or actin filaments), motor proteins, molecules at the vesicle membrane and target membrane surfaces, and vesicle cargo.	
MONDO:0009608	methionine malabsorption syndrome	biolink:Disease	mondo	OMIM:250900|UMLS:C0268622|SCTID:45812003|MESH:C562682		Smith-strang disease|oasthouse urine disease|methionine malabsorption syndrome	http://purl.obolibrary.org/obo/MONDO_0009608		MESH:C562682|SNOMEDCT:45812003|UMLS:C0268622|http://identifiers.org/omim/250900
GO:0006900	vesicle budding from membrane	biolink:OntologyClass	mondo			single-organism membrane budding|vesicle biosynthesis|single organism membrane budding|vesicle budding|membrane evagination|nonselective vesicle assembly|vesicle formation	http://purl.obolibrary.org/obo/GO_0006900	The evagination of a membrane, resulting in formation of a vesicle.	
MONDO:0009607	methionine adenosyltransferase deficiency	biolink:Disease	mondo	OMIM:250850|NCIT:C123435|ICD10:E72.1|GARD:0008397|Orphanet:168598	ordo_disease	methionine adenosyltransferase I/III deficiency|isolated persistent hypermethioninemia|MAT deficiency|methionine adenosyltransferase deficiency|Mat I/III deficiency|brain demyelination due to methionine adenosyltransferase deficiency|hypermethioninemia, isolated persistent|MAT I/III deficiency	http://purl.obolibrary.org/obo/MONDO_0009607	Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.	ORPHA:168598|NCIT:C123435|http://identifiers.org/omim/250850
MONDO:0009606	methemoglobinemia due to deficiency of methemoglobin reductase	biolink:Disease	mondo	OMIM:250800|GARD:0003909		NADH cytochrome B5 reductase deficiency|NADH methemoglobin reductase deficiency|methemoglobinemia, congenital, autosomal recessive|NADH-dependent methemoglobin reductase deficiency|NADH-cytochrome B5 reductase deficiency, type 2|NADH-cytochrome B5 reductase deficiency|methemoglobinemia, type 2|NADH-cytochrome B5 reductase deficiency, type 1|methemoglobinemia due to deficiency of methemoglobin reductase|methemoglobinemia, type 1|NADH diaphorase deficiency	http://purl.obolibrary.org/obo/MONDO_0009606		http://identifiers.org/omim/250800
MONDO:0009605	methemoglobinemia type 4	biolink:Disease	mondo	UMLS:C2673427|MESH:C567102|OMIM:250790		methemoglobinemia and ambiguous genitalia|CYB5A methemoglobinemia|methemoglobinemia due to deficiency of cytochrome B5, formerly|methemoglobinemia due to deficiency of cytochrome B5|methemoglobinemia caused by mutation in CYB5A|methemoglobinemia and ambiguous genitalia; METAG|isolated 17,20-lyase deficiency, Pure|methemoglobinemia type IV, formerly|METAG|methemoglobinemia type IV	http://purl.obolibrary.org/obo/MONDO_0009605	Any methemoglobinemia in which the cause of the disease is a mutation in the CYB5A gene.	UMLS:C2673427|MESH:C567102|http://identifiers.org/omim/250790
MONDO:0009604	methemoglobin reductase deficiency	biolink:Disease	mondo	OMIM:250700|MESH:C563171|SCTID:234397008|UMLS:C0472786		TPNH-methemoglobin reductase deficiency|methemoglobin reductase deficiency|NADPH-dependent methemoglobin reductase deficiency	http://purl.obolibrary.org/obo/MONDO_0009604		MESH:C563171|UMLS:C0472786|http://identifiers.org/omim/250700|SNOMEDCT:234397008
MONDO:0009603	3-hydroxyisobutyryl-CoA hydrolase deficiency	biolink:Disease	mondo	OMIM:250620|SCTID:722488009|MESH:C562803|GARD:0013202|Orphanet:88639|ICD10:E71.1	ordo_disease	neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency|3-hydroxyisobutyryl-CoA hydrolase deficiency; HIBCHD|valine metabolic defect|beta-hydroxyisobutyryl Coa deacylase deficiency|methacrylic acid toxicity|HIBCH deficiency|3-hydroxyisobutyryl-CoA hydrolase deficiency|methacrylic aciduria|Beta-hydroxyisobutyryl-CoA deacylase deficiency|HIBCHD	http://purl.obolibrary.org/obo/MONDO_0009603	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.	SNOMEDCT:722488009|MESH:C562803|ORPHA:88639|http://identifiers.org/omim/250620
MONDO:0009602	metaphyseal modeling abnormality, skin lesions, and spastic paraplegia	biolink:Disease	mondo	OMIM:250500|GARD:0000217|MESH:C535875|UMLS:C1855164	gard_rare	Roy Maroteaux Kremp syndrome|metaphyseal modeling abnormality, skin lesions, and spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0009602		MESH:C535875|http://identifiers.org/omim/250500|UMLS:C1855164
MONDO:0009601	metaphyseal dysplasia without hypotrichosis	biolink:Disease	mondo	UMLS:C1834821|OMIM:250460|GARD:0010622|MESH:C563574|Orphanet:1838	gard_rare	cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency|cartilage-hair hypoplasia variant, skeletal manifestations only|MDWH|metaphyseal dysplasia without hypotrichosis; MDWH|CHHV|metaphyseal dysplasia without hypotrichosis	http://purl.obolibrary.org/obo/MONDO_0009601		MESH:C563574|UMLS:C1834821|http://identifiers.org/omim/250460|ORPHA:1838
MONDO:0009600	metaphyseal dysplasia, anetoderma, and optic atrophy	biolink:Disease	mondo	MESH:C565395|UMLS:C1855174|OMIM:250450		metaphyseal dysplasia, anetoderma, and optic atrophy	http://purl.obolibrary.org/obo/MONDO_0009600		http://identifiers.org/omim/250450|UMLS:C1855174|MESH:C565395
UBERON:0018227	pulmonary lymphatic vessel	biolink:AnatomicalEntity	mondo			lymphatic vessel of lung	http://purl.obolibrary.org/obo/UBERON_0018227	A lymphatic vessel that is part of a lung.	
UBERON:0018226	pulmonary part of lymphatic system	biolink:AnatomicalEntity	mondo			pulmonary lymphatic vasculature|pulmonary lymphatic chain	http://purl.obolibrary.org/obo/UBERON_0018226	An organ system subdivision that is the part of the lymphoid system that includes the pulmonary lymphatic vessels.	
UBERON:0006245	humerus cartilage element	biolink:AnatomicalEntity	mondo			humeral cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0006245	A humerus endochondral element that is composed primarily of cartilage tissue.	
UBERON:0006242	gall bladder primordium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006242	A sac-like cavity ventral to the liver, lying in the sub-mesodermal space and closed by a thin sheet of ectodermal cells, from which the future gall bladder develops.	
UBERON:0006241	future spinal cord	biolink:AnatomicalEntity	mondo			presumptive spinal cord neural keel|presumptive spinal cord|presumptive spinal cord neural rod|presumptive spinal cord neural plate	http://purl.obolibrary.org/obo/UBERON_0006241		
UBERON:0006240	future forebrain	biolink:AnatomicalEntity	mondo			future prosencephalon|prosencephalon|presumptive prosencephalon|presumptive forebrain	http://purl.obolibrary.org/obo/UBERON_0006240	A presumptive structure that has the potential to develop into a forebrain.	
MONDO:0010600	granulomatous disease, chronic, X-linked	biolink:Disease	mondo	OMIM:306400|DOID:0070195		granulomatous disease, chronic, X-linked|granulomatous disease, chronic, X-linked, variant|cytochrome B-negative granulomatous disease, chronic, X-linked|cytochrome B-positive granulomatous disease, chronic, X-linked|granulomatous disease, chronic, X-linked; CDGX|chronic granulomatous disease, atypical|chronic granulomatous disease, X-linked|granulomatous disease, chronic, X-linked; CGD|CDGX|CGD	http://purl.obolibrary.org/obo/MONDO_0010600		http://identifiers.org/omim/306400|DOID:0070195
GO:0043933	protein-containing complex subunit organization	biolink:OntologyClass	mondo			cellular macromolecular complex organization|protein complex subunit organisation|cellular macromolecular complex subunit organization|macromolecular complex subunit organisation|protein complex subunit organization|macromolecular complex organization|cellular macromolecular complex subunit organisation|macromolecular complex subunit organization	http://purl.obolibrary.org/obo/GO_0043933	Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a protein complex.	
GO:0043932	ossification involved in bone remodeling	biolink:OntologyClass	mondo			ossification involved in bone remodelling	http://purl.obolibrary.org/obo/GO_0043932	The formation or growth of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone, involved in response to injury or other physical, physiological or environmental stress stimuli.	
GO:0006909	phagocytosis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0006909	A vesicle-mediated transport process that results in the engulfment of external particulate material by phagocytes and their delivery to the lysosome. The particles are initially contained within phagocytic vacuoles (phagosomes), which then fuse with primary lysosomes to effect digestion of the particles.	
UBERON:0006247	iliac pre-cartilage condensation	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006247	A iliac endochondral element that is composed primarily of a pre-cartilage condensation.	
UBERON:0006246	humerus pre-cartilage condensation	biolink:AnatomicalEntity	mondo			humeral pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0006246	A humerus endochondral element that is composed primarily of a pre-cartilage condensation.	
HGNC:4651	GTF2E2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4651		
MONDO:0009619	microcephaly-micromelia syndrome	biolink:Disease	mondo	MESH:C565382|Orphanet:572768|OMIM:251230|UMLS:C1855079		MIMIS|microcephaly-micromelia syndrome|microcephaly-micromelia syndrome; MIMIS	http://purl.obolibrary.org/obo/MONDO_0009619		http://identifiers.org/omim/251230|UMLS:C1855079|MESH:C565382|ORPHA:572768
GO:0006911	phagocytosis, engulfment	biolink:OntologyClass	mondo			phagosome biosynthesis|phagosome formation	http://purl.obolibrary.org/obo/GO_0006911	The internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis, including the membrane and cytoskeletal processes required, which involves one of three mechanisms: zippering of pseudopods around a target via repeated receptor-ligand interactions, sinking of the target directly into plasma membrane of the phagocytosing cell, or induced uptake via an enhanced membrane ruffling of the phagocytosing cell similar to macropinocytosis.	
MONDO:0009618	microcephaly-cardiomyopathy syndrome	biolink:Disease	mondo	Orphanet:2515|OMIM:251220|ICD10:Q87.8|SCTID:719380003|UMLS:C1855080|MESH:C536711|GARD:0003609	ordo_malformation_syndrome	severe microcephaly with mental retardation and dilated cardiomyopathy|microcephaly-cardiomyopathy|Winship-Viljoen-Leary syndrome|severe microcephaly and self-limiting dilated cardiomyopathy|microcephaly with cardiomyopathy|severe microcephaly with intellectual disability and dilated cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0009618	Microcephaly-cardiomyopathy syndrome is characterised by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive.	SNOMEDCT:719380003|UMLS:C0796061|http://identifiers.org/omim/251220|ORPHA:2515|MESH:C537324|UMLS:C1855080|MESH:C536711
MONDO:0009617	microcephaly 1, primary, autosomal recessive	biolink:Disease	mondo	DOID:0070285|MESH:C565384|Orphanet:52183|OMIM:251200|UMLS:C1855081		autosomal recessive primary microcephaly caused by mutation in MCPH1|MCPH1 autosomal recessive primary microcephaly|premature chromosome condensation syndrome|PCC syndrome|microcephaly 1, primary, autosomal recessive; MCPH1|MCPH1|microcephaly 1, primary, autosomal recessive|premature chromosome condensation with microcephaly and mental retardation|premature chromosome condensation with microcephaly and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0009617	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the MCPH1 gene.	ORPHA:52183|DOID:0070285|http://identifiers.org/omim/251200|UMLS:C1855081|MESH:C565384
MONDO:0009616	microcephalic primordial dwarfism, Toriello type	biolink:Disease	mondo	UMLS:C1855089|ICD10:Q87.1|OMIM:251190|GARD:0003602|SCTID:715482004|MESH:C537321|Orphanet:2643	ordo_malformation_syndrome|gard_rare	microcephalic primordial dwarfism and cataracts|microcephalic primordial dwarfism, Toriello type|microcephalic primordial dwarfism Toriello type	http://purl.obolibrary.org/obo/MONDO_0009616	Microcephalic primordial dwarfism, Toriello type is characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive.	http://identifiers.org/omim/251190|ORPHA:2643|MESH:C537321|UMLS:C1855089|SNOMEDCT:715482004
GO:0006910	phagocytosis, recognition	biolink:OntologyClass	mondo			recognition of phagocytosed substance by phagocytic cell	http://purl.obolibrary.org/obo/GO_0006910	The initial step in phagocytosis involving adhesion to bacteria, immune complexes and other particulate matter, or an apoptotic cell and based on recognition of factors such as bacterial cell wall components, opsonins like complement and antibody or protein receptors and lipids like phosphatidyl serine, and leading to intracellular signaling in the phagocytosing cell.	
MONDO:0009615	methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	biolink:Disease	mondo	ICD10:E71.1|OMIM:251120|SCTID:765137006|UMLS:C1855100|Orphanet:308425|MESH:C565386	ordo_disease	methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency|methylmalonyl-Coa racemase deficiency|MCEE deficiency|methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency|methylmalonyl-CoA epimerase deficiency|methylmalonic aciduria III, formerly|methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency|methylmalonic aciduria III|methylmalonyl-Coa epimerase deficiency with sepiapterin reductase deficiency	http://purl.obolibrary.org/obo/MONDO_0009615	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.	ORPHA:308425|http://identifiers.org/omim/251120|UMLS:C1855100|MESH:C565386|SNOMEDCT:765137006
NCBITaxon:4069	Solanales	organism taxon	mondo	GC_ID:1		Solananae	http://purl.obolibrary.org/obo/NCBITaxon_4069		
MONDO:0009614	vitamin B12-responsive methylmalonic acidemia type cblB	biolink:Disease	mondo	GARD:0009479|DOID:0060743|ICD10:E71.1|UMLS:C1855102|NCIT:C142172|OMIM:251110|Orphanet:79311	ordo_clinical_subtype	methylmalonic acidemia, cblB type|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type|vitamin B12-responsive methylmalonic aciduria, type cblB|methylmalonic aciduria, cblB type|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type|methylmalonic acidemia cblB type|methylmalonic aciduria cblB type|vitamin B12-responsive methylmalonic acidemia type cblB	http://purl.obolibrary.org/obo/MONDO_0009614	An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial.	DOID:0060743|http://identifiers.org/omim/251110|MESH:C537361|UMLS:C1855102|ORPHA:79311|NCIT:C142172
MONDO:0009613	vitamin B12-responsive methylmalonic acidemia type cblA	biolink:Disease	mondo	UMLS:C0342722|GARD:0005500|UMLS:C0342721|UMLS:C1855109|DOID:0060742|ICD10:E71.1|SCTID:82245003|NCIT:C142171|SCTID:73843004|OMIM:251100|Orphanet:79310	ordo_clinical_subtype	methylmalonic acidemia, cblA type|methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA type|MMA Cbl A type|methylmalonic aciduria cblA type|methylmalonic aciduria, cblA type|vitamin B12-responsive methylmalonic aciduria type cblA|cobalamin locus b variant|cblA methylmalonic acidemia|cobalamin locus a variant|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type|cblB methylmalonic acidemia|cobalamin b disease|cblB - cobalamin locus b|cobalamin a disease|vitamin B12-responsive methylmalonic acidemia type cblA|cblA - cobalamin locus a|methylmalonic acidemia cblA type|methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA complementation type	http://purl.obolibrary.org/obo/MONDO_0009613	An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein.	DOID:0060742|http://identifiers.org/omim/251100|SNOMEDCT:82245003|MESH:C537360|UMLS:C1855109|SNOMEDCT:73843004|ORPHA:79310|UMLS:C0342722|UMLS:C0342721|NCIT:C142171
MONDO:0009612	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	biolink:Disease	mondo	Orphanet:27|NCIT:C148366|UMLS:C1855114|DOID:0060740|ICD10:E71.1|GARD:0003586|OMIM:251000	ordo_disease	methylmalonic aciduria, mut type|methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency|methylmalonic aciduria, mut(0) type|vitamin B12-unresponsive methylmalonic aciduria|methylmalonic aciduria, mut(-) type|methylmalonic acidemia due to methylmalonyl-Coa mutase deficiency MMA due to MCM deficiency|methylmalonyl-CoA mutase deficiency|methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency|MCM deficiency|methylmalonic aciduria mut type|methylmalonyl-Coenzyme A mutase deficiency|vitamin B12-unresponsive methylmalonic acidemia	http://purl.obolibrary.org/obo/MONDO_0009612	Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-.	DOID:0060740|ORPHA:27|http://identifiers.org/omim/251000|NCIT:C148366|UMLS:C1855114
MONDO:0009611	3-methylglutaconic aciduria type 4	biolink:Disease	mondo	ICD10:E71.1|MESH:C565393|SCTID:297233004|OMIM:250951|UMLS:C0574085|UMLS:C1855126|GARD:0010342|DOID:0110006|Orphanet:67048	ordo_disease|gard_rare	3-Methylglutaconic aciduria, type 4|Mga, type 4|Not otherwise specified 3-MGA-Uria type|3 methylglutaconic aciduria type IV|MGA4|3 alpha methylglutaconic aciduria type IV|3-METHYLGLUTACONIC aciduria, type IV; MGCA4|3-methylglutaconic aciduria type IV|3-METHYLGLUTACONIC aciduria, type IV|MGCA4|MGA type IV	http://purl.obolibrary.org/obo/MONDO_0009611	3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III).	UMLS:C0574085|http://identifiers.org/omim/250951|UMLS:C1855126|ORPHA:67048|SNOMEDCT:297233004|MESH:C565393|DOID:0110006
MONDO:0009610	3-methylglutaconic aciduria type 1	biolink:Disease	mondo	SCTID:237951008|DOID:0110002|MESH:C562801|OMIM:250950|ICD10:E71.1|NCIT:C98683|Orphanet:67046|UMLS:C0342728|UMLS:C0342727|GARD:0010321	ordo_disease	3-METHYLGLUTACONIC aciduria, type I|3-Methylglutaconic aciduria, type 1|3-Mg-Coa-hydratase deficiency|3 methylglutaconyl CoA hydratase deficiency|3-methylglutaconic aciduria caused by mutation in AUH|3-methylglutaconic aciduria caused by mutation in auh|3 alpha methylglutaconic aciduria type I|Mga, type 1|3-MGCA type I (3-MGCA-1)|3-METHYLGLUTACONIC aciduria, type I; MGCA1|MGA1|MGA type I|AUH 3-methylglutaconic aciduria|3MG-CoA hydratase deficiency|auh 3-methylglutaconic aciduria|3MG CoA hydratase deficiency|3-methylglutaconyl-CoA hydratase deficiency (auh defect)|3-methylglutaconic aciduria type I|3-methylglutaconyl-Coa hydratase deficiency|3 methylglutaconic aciduria type 1|MGCA1|3-methylglutaconyl-CoA hydratase deficiency	http://purl.obolibrary.org/obo/MONDO_0009610	3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.	MESH:C562801|http://identifiers.org/omim/250950|SNOMEDCT:237951008|DOID:0110002|ORPHA:67046|UMLS:C0342727|UMLS:C0342728|NCIT:C98683
NCBITaxon:4070	Solanaceae	organism taxon	mondo	GC_ID:1		nightshade family	http://purl.obolibrary.org/obo/NCBITaxon_4070		
UBERON:0006234	femur pre-cartilage condensation	biolink:AnatomicalEntity	mondo			femoral pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0006234	A femur endochondral element that is composed primarily of a pre-cartilage condensation.	
UBERON:0008897	fin	biolink:AnatomicalEntity	mondo			fins	http://purl.obolibrary.org/obo/UBERON_0008897	An external projection of an aquatic animal as a fish used in propelling or guiding the body[BTO].	
UBERON:0006233	female genital tubercle	biolink:AnatomicalEntity	mondo			genital tubercle of female	http://purl.obolibrary.org/obo/UBERON_0006233	A differentiated genital tubercle that is part of a female reproductive system.	
UBERON:0006232	facio-acoustic VII-VIII preganglion complex	biolink:AnatomicalEntity	mondo			facio-acoustic preganglion complex	http://purl.obolibrary.org/obo/UBERON_0006232		
UBERON:0006230	extrinsic ocular pre-muscle mass	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006230		
UBERON:0006239	future central tendon	biolink:AnatomicalEntity	mondo			cranial derivative of septum transversum|cranial part of septum transversum	http://purl.obolibrary.org/obo/UBERON_0006239	A tendon that has the potential to develop into a central tendon.	
UBERON:0006238	future brain	biolink:AnatomicalEntity	mondo			encephalon|presumptive brain|brain rudiment|embryonic brain	http://purl.obolibrary.org/obo/UBERON_0006238	The embryonic precursor of the brain.	
UBERON:0008895	splanchnocranium	biolink:AnatomicalEntity	mondo			viscerocranium|gill arch skeleton|branchial arch skeleton|pharyngeal skeleton|visceral skeleton|visceral skeletal system|visceral cranium|pharyngeal endoskeleton|pharyngeal arch|pharyngeal arch skeleton	http://purl.obolibrary.org/obo/UBERON_0008895	Subdivision of endoskeleton derived from pharyngeal arches	
GO:0006915	apoptotic process	biolink:OntologyClass	mondo			apoptosis|type I programmed cell death|signaling (initiator) caspase activity|cell suicide|apoptosis activator activity|apoptotic cell death|caspase-dependent programmed cell death|commitment to apoptosis|induction of apoptosis|apoptosis signaling|apoptotic programmed cell death|cellular suicide|apoptotic program|programmed cell death by apoptosis|induction of apoptosis by p53|activation of apoptosis	http://purl.obolibrary.org/obo/GO_0006915	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.	
UBERON:0008896	post-hyoid pharyngeal arch	biolink:AnatomicalEntity	mondo			visceral arches 3-7|branchial bar|branchial arch|gill arch|branchial arches|gill bar|branchial bars|pharyngeal arch 3-7|gill arches 1-5	http://purl.obolibrary.org/obo/UBERON_0008896	A pharyngeal arch that is posterior to the hyoid arch. i.e. any pharyngeal arch with a number 3 or higher.	
UBERON:0006235	foregut-midgut junction	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006235	An anatomical junctions that overlaps the foregut and midgut.	
CHEBI:65296	primary ammonium ion	biolink:ChemicalSubstance	mondo			a primary amine|substituted ammonium	http://purl.obolibrary.org/obo/CHEBI_65296	An ammonium ion derivative resulting from the protonation of the nitrogen atom of a primary amino compound. Major species at pH 7.3.	
UBERON:0008886	pulmonary vascular system	biolink:AnatomicalEntity	mondo			pulmonary circulatory system|pulmonary system	http://purl.obolibrary.org/obo/UBERON_0008886	The part of the cardiovascular system consisting of all pulmonary arteries and all pulmonary veins.	
UBERON:0008887	rectal venous plexus	biolink:AnatomicalEntity	mondo			plexus venosus rectalis|plexus haemorrhoidalis|haemorrhoidal plexus|hemorrhoidal plexus	http://purl.obolibrary.org/obo/UBERON_0008887	The hemorrhoidal plexus (or rectal venous plexus) surrounds the rectum, and communicates in front with the vesical venous plexus in the male, and the uterovaginal plexus in the female. A free communication between the portal and systemic venous systems is established through the hemorrhoidal plexus.	
UBERON:0006222	future diencephalon	biolink:AnatomicalEntity	mondo			presumptive diencephalon	http://purl.obolibrary.org/obo/UBERON_0006222	The foremost region of the future forebrain that develops into the diencephalon.	
CL:0008024	pancreatic endocrine cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0008024	An endocrine cell that is part of the pancreas.	
HGNC:4679	GUCA1B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4679		
HGNC:4678	GUCA1A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4678		
CHEBI:16277	haloacetic acid	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_16277	A monocarboxylic acid that is acetic acid in which one of the methyl hydrogens has been replaced by a halogen atom.	
UBERON:0006227	ethmoid bone primordium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006227		
UBERON:0008882	spinal cord commissure	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0008882	The nerve fiber tracts that span the midline of the spinal cord	
UBERON:0008883	osteoid	biolink:AnatomicalEntity	mondo			prebone|osteoid tissue|prebone tissue|pre-bone	http://purl.obolibrary.org/obo/UBERON_0008883	Bone tissue that is an unmineralized bone matrix deposited by osteoblasts prior to the mineralization of bone tissue.	
UBERON:0006226	endolymphatic appendage	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006226		
UBERON:0006224	elbow joint primordium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006224		
HGNC:2019	CLCN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2019		
HGNC:2020	CLCN2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2020		
UBERON:0008876	hypodermis skeletal muscle layer	biolink:AnatomicalEntity	mondo			panniculus carnosus|superficial fascia muscular layer|hypodermis muscle layer|hypodermal muscle layer	http://purl.obolibrary.org/obo/UBERON_0008876	Any skeletal muscle organ in the hypodermis / superficial fascia	
UBERON:0006211	buccopharyngeal membrane	biolink:AnatomicalEntity	mondo			pharyngeal membrane|oral membrane|oral plate|oropharyngeal membrane	http://purl.obolibrary.org/obo/UBERON_0006211	The thin bilaminar membrane derived from the prechordal plate that is devoid of mesoderm and formed by the apposition of the stomodeal ectoderm with the foregut endoderm; after the embryonic head fold has evolved it lies at the caudal limit of the stomodeum, forming a septum between the primitive mouth and pharynx; the membrane eventually disappears, and thus a communication is established between the mouth and the future pharynx.	
UBERON:0006210	body-wall mesenchyme	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006210		
UBERON:0008878	palmar part of manus	biolink:AnatomicalEntity	mondo			palm of hand|regio palmaris|palm|palmar region|front of hand	http://purl.obolibrary.org/obo/UBERON_0008878		
NCBITaxon:123368	Acanthomorphata	organism taxon	mondo	GC_ID:1		Acanthomorpha	http://purl.obolibrary.org/obo/NCBITaxon_123368		
HGNC:2026	CLCNKA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2026		
UBERON:0006218	common atrial chamber	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006218		
HGNC:4689	GUCY2D	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4689		
UBERON:0008870	pulmonary alveolar parenchyma	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0008870	The distinguishing cell types of the lung alveolar tissue, including pulmonary epithelial cells (pneumocytes), alveolar capillary endothelial cells, interstitial cells (fibroblasts) and alveolar macrophages	
UBERON:0006217	cloacal membrane	biolink:AnatomicalEntity	mondo			membrana cloacalis|embryonic cloacal membrane	http://purl.obolibrary.org/obo/UBERON_0006217	The membrane that covers the embryonic cloaca, formed by the union of proctodeal (anal pit) ectoderm and cloacal endoderm, with no intervening mesoderm; the urorectal septum joins the cloacal membrane and divides it into an anal membrane and a urogenital membrane; the point where the urorectal septum intersects the cloacal membrane is the future site of the perineal body; proliferation of mesoderm and ectoderm around the cloacal membrane produces primordial tissues of the external genitalia in both sexes: the genital tubercle, genital folds, and genital swellings.	
HGNC:2027	CLCNKB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2027		
HGNC:4688	GUCY2C	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4688		
NCBITaxon:123365	Neoteleostei	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_123365		
UBERON:0006215	rhombic lip	biolink:AnatomicalEntity	mondo			cerebellar primordium|future cerebellum|rostral rhombic lip|dorsal part of alar plate of metencephalon|cerebellar anlage|cerebellum primordium|presumptive cerebellum	http://purl.obolibrary.org/obo/UBERON_0006215	the posterior section of the developing metencephalon recognized transiently within the vertebrate embryo; the rhombic lip extends posteriorly from the roof of the fourth ventricle to dorsal neuroepithelial cell and can be divided into eight structural units based on rhombomeres 1-8 (r1-r8), recognized at early stages of hindbrain development; producing granule cells and five brainstem nuclei, the rhombic lip plays an important role in developing a complex cerebellar neural system	
HGNC:2025	CLCN7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2025		
HGNC:2022	CLCN4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2022		
UBERON:0006214	carpus pre-cartilage condensation	biolink:AnatomicalEntity	mondo			carpal pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0006214	A pre-cartilage condensation that has the potential to develop into a carpal bone.	
NCBITaxon:123366	Eurypterygia	organism taxon	mondo	GC_ID:1		Eurypterygii	http://purl.obolibrary.org/obo/NCBITaxon_123366		
HGNC:4685	GUCY1A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4685		
NCBITaxon:123367	Ctenosquamata	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_123367		
UBERON:0008874	pulmonary acinus	biolink:AnatomicalEntity	mondo			respiratory lobule|arbor alveolaris|acinus pulmonaris|lobulus pulmonis primarius|primary pulmonary lobule	http://purl.obolibrary.org/obo/UBERON_0008874	The part of the airway consisting of a respiratory bronchiole and all of its branches	
UBERON:0006213	carpus cartilage element	biolink:AnatomicalEntity	mondo			carpal cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0006213	A cartilaginous condensation that has the potential to develop into a carpal bone.	
CL:0008034	mural cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0008034	Mural cells are pericytes and the vascular smooth muscle cells (vSMCs) of the microcirculation.	
HGNC:2023	CLCN5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2023		
ENVO:01001008	meteor	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001008	A meteor is any matter- or energy-based entity which is located in the atmosphere of an astronomical body.	
GO:0090283	regulation of protein glycosylation in Golgi	biolink:OntologyClass	mondo			regulation of protein amino acid glycosylation in Golgi	http://purl.obolibrary.org/obo/GO_0090283	Any process that modulates the rate, frequency, or extent of the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in any compartment of the Golgi apparatus.	
GO:0004363	glutathione synthase activity	biolink:OntologyClass	mondo			glutathione synthetase activity|GSH synthetase activity|gamma-L-glutamyl-L-cysteine:glycine ligase (ADP-forming)	http://purl.obolibrary.org/obo/GO_0004363	Catalysis of the reaction: L-gamma-glutamyl-L-cysteine + ATP + glycine = ADP + glutathione + 2 H(+) + phosphate.	
ENVO:01001000	environmental system determined by an organism	biolink:OntologyClass	mondo			host-associated environment	http://purl.obolibrary.org/obo/ENVO_01001000	An environmental system which is determined by a living organism.	
GO:0031982	vesicle	biolink:OntologyClass	mondo			membrane-bounded vesicle|membrane-enclosed vesicle	http://purl.obolibrary.org/obo/GO_0031982	Any small, fluid-filled, spherical organelle enclosed by membrane.	
ENVO:01001002	animal-associated environment	biolink:OntologyClass	mondo			animal environment|Metazoan-associated environment	http://purl.obolibrary.org/obo/ENVO_01001002	An environmental system determined by an animal.	
GO:0090284	positive regulation of protein glycosylation in Golgi	biolink:OntologyClass	mondo			positive regulation of protein amino acid glycosylation in Golgi	http://purl.obolibrary.org/obo/GO_0090284	Any process that increases the rate, frequency, or extent of the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in any compartment of the Golgi apparatus.	
GO:0031981	nuclear lumen	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0031981	The volume enclosed by the nuclear inner membrane.	
ENVO:01001001	plant-associated environment	biolink:OntologyClass	mondo			Viridiplantae-associated environment|plant environment	http://purl.obolibrary.org/obo/ENVO_01001001	An environmental system determined by a green plant.	
GO:0090285	negative regulation of protein glycosylation in Golgi	biolink:OntologyClass	mondo			negative regulation of protein amino acid glycosylation in Golgi	http://purl.obolibrary.org/obo/GO_0090285	Any process that decreases the rate, frequency, or extent of the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in any compartment of the Golgi apparatus.	
HGNC:23399	FREM1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23399		
GO:0031975	envelope	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0031975	A multilayered structure surrounding all or part of a cell; encompasses one or more lipid bilayers, and may include a cell wall layer; also includes the space between layers.	
GO:0031974	membrane-enclosed lumen	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0031974	The enclosed volume within a sealed membrane or between two sealed membranes. Encompasses the volume enclosed by the membranes of a particular organelle, e.g. endoplasmic reticulum lumen, or the space between the two lipid bilayers of a double membrane surrounding an organelle, e.g. nuclear envelope lumen.	
HP:0025408	Abnormal spleen morphology	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0025408	Any anomaly of the structure of the spleen.	
GO:0004370	glycerol kinase activity	biolink:OntologyClass	mondo			GK|glyceric kinase activity|ATP:glycerol-3-phosphotransferase activity|ATP:glycerol 3-phosphotransferase activity|glycerokinase activity|glycerol kinase (phosphorylating)	http://purl.obolibrary.org/obo/GO_0004370	Catalysis of the reaction: ATP + glycerol = sn-glycerol 3-phosphate + ADP + 2 H(+).	
HP:0001450	Y-linked inheritance	biolink:PhenotypicFeature	mondo	UMLS:C0814045|MSH:D050173			http://purl.obolibrary.org/obo/HP_0001450	A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome.	
GO:0004348	glucosylceramidase activity	biolink:OntologyClass	mondo			beta-glucosylceramidase activity|glucocerebrosidase activity|D-glucosyl-N-acylsphingosine glucohydrolase activity|glucosylcerebrosidase activity|glucosphingosine glucosylhydrolase activity|acid beta-glucosidase activity|psychosine hydrolase activity|beta-D-glucocerebrosidase activity|glucosylsphingosine beta-glucosidase activity|GlcCer-beta-glucosidase activity|ceramide glucosidase activity|beta-glucocerebrosidase activity|glucosylsphingosine beta-D-glucosidase activity	http://purl.obolibrary.org/obo/GO_0004348	Catalysis of the reaction: D-glucosyl-N-acylsphingosine + H2O = D-glucose + N-acylsphingosine.	
GO:0031966	mitochondrial membrane	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0031966	Either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope.	
GO:0031967	organelle envelope	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0031967	A double membrane structure enclosing an organelle, including two lipid bilayers and the region between them. In some cases, an organelle envelope may have more than two membranes.	
GO:0004345	glucose-6-phosphate dehydrogenase activity	biolink:OntologyClass	mondo			NADP-dependent glucose 6-phosphate dehydrogenase activity|zwischenferment|G6PD activity|Zwischenferment|Entner-doudoroff enzyme|GDH|G6PDH|glucose 6-phosphate dehydrogenase (NADP) activity|6-phosphoglucose dehydrogenas|NADP-glucose-6-phosphate dehydrogenase activity|6-phosphoglucose dehydrogenase activity|glucose-6-phosphate 1-dehydrogenase activity|D-glucose 6-phosphate dehydrogenase activity|D-glucose-6-phosphate:NADP+ 1-oxidoreductase activity	http://purl.obolibrary.org/obo/GO_0004345	Catalysis of the reaction: D-glucose 6-phosphate + NADP+ = D-glucono-1,5-lactone 6-phosphate + NADPH + H+.	
ENVO:01001026	electromagnetic radiation	biolink:OntologyClass	mondo			EM radiation	http://purl.obolibrary.org/obo/ENVO_01001026	A radiation process during which waves (or their quanta, photons) of the electromagnetic field propagate (radiate) through space carrying electromagnetic energy.	
GO:0004347	glucose-6-phosphate isomerase activity	biolink:OntologyClass	mondo			phosphoglucose isomerase activity|hexose phosphate isomerase activity|hexose monophosphate isomerase activity|phosphohexose isomerase activity|phosphohexoisomerase activity|D-glucose-6-phosphate ketol-isomerase activity|oxoisomerase activity|glucose phosphate isomerase activity|D-glucose-6-phosphate aldose-ketose-isomerase activity|hexosephosphate isomerase activity|phosphosaccharomutase activity|phosphohexomutase activity|phosphoglucoisomerase activity	http://purl.obolibrary.org/obo/GO_0004347	Catalysis of the reaction: D-glucose 6-phosphate = D-fructose 6-phosphate.	
GO:0004346	glucose-6-phosphatase activity	biolink:OntologyClass	mondo			D-glucose-6-phosphate phosphohydrolase activity|glucose 6-phosphate phosphatase activity	http://purl.obolibrary.org/obo/GO_0004346	Catalysis of the reaction: D-glucopyranose 6-phosphate + H2O = D-glucose + phosphate. D-glucopyranose is also known as D-glucose 6-phosphate.	
NCBITaxon:4081	Solanum lycopersicum	organism taxon	mondo	GC_ID:1		Lycopersicon esculentum var. esculentum|Lycopersicon esculentum|Solanum lycopersicum var. humboldtii|tomato|Solanum esculentum	http://purl.obolibrary.org/obo/NCBITaxon_4081		
HGNC:11389	STK11	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11389		
HP:0001423	X-linked dominant inheritance	biolink:PhenotypicFeature	mondo	UMLS:C1847879		X-linked dominant	http://purl.obolibrary.org/obo/HP_0001423	A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.	
ENVO:01001022	natural lake	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001022	A lake which has formed as the result of processes that are not or are only minimally driven by human activity.	
ENVO:01001023	radiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001023	A process during which energy is emitted or transmitted in the form of waves or particles through space or a material medium.	
HGNC:11386	STIM1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11386		
GO:0004357	glutamate-cysteine ligase activity	biolink:OntologyClass	mondo			L-glutamate:L-cysteine gamma-ligase (ADP-forming) activity|gamma-glutamylcysteinyl synthetase activity|gamma-glutamylcysteine synthetase activity|gamma-glutamyl-L-cysteine synthetase activity	http://purl.obolibrary.org/obo/GO_0004357	Catalysis of the reaction: L-cysteine + L-glutamate + ATP = L-gamma-glutamyl-L-cysteine + ADP + 2 H(+) + phosphate.	
GO:0004351	glutamate decarboxylase activity	biolink:OntologyClass	mondo			L-aspartate-alpha-decarboxylase activity|L-glutamic acid decarboxylase activity|L-glutamate alpha-decarboxylase activity|L-glutamate 1-carboxy-lyase (4-aminobutanoate-forming)|aspartic alpha-decarboxylase|cysteic acid decarboxylase activity|L-glutamate 1-carboxy-lyase activity|L-glutamic decarboxylase activity|gamma-glutamate decarboxylase activity	http://purl.obolibrary.org/obo/GO_0004351	Catalysis of the reaction: L-glutamate = 4-aminobutanoate + CO2.	
HP:0001438	Abnormal abdomen morphology	biolink:PhenotypicFeature	mondo	UMLS:C4020869		Abdomen abnormality|Abnormality of abdomen morphology|Abnormality of the abdomen|Abnormality of abdomen structure	http://purl.obolibrary.org/obo/HP_0001438	A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.	
HP:0001433	Hepatosplenomegaly	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:36760000|UMLS:C0019214		Enlarged liver and spleen	http://purl.obolibrary.org/obo/HP_0001433	Simultaneous enlargement of the liver and spleen.	
GO:0090275	negative regulation of somatostatin secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0090275	Any process that decreases the rate, frequency, extent of the regulated release of somatostatin from secretory granules in the D cells of the pancreas.	
GO:0016331	morphogenesis of embryonic epithelium	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016331	The process in which the anatomical structures of embryonic epithelia are generated and organized.	
ENVO:01001010	hydrometeor	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001010	A meteor which is primarily composed of water.	
GO:0090276	regulation of peptide hormone secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0090276	Any process that modulates the rate, frequency, or extent of the regulated release of a peptide hormone from secretory granules.	
GO:0090273	regulation of somatostatin secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0090273	Any process that modulates the rate, frequency, extent of the regulated release of somatostatin from secretory granules in the D cells of the pancreas.	
HGNC:11391	AURKC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11391		
ENVO:01001012	lithometeor	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001012	A meteor which is primarily composed of rock.	
GO:0090274	positive regulation of somatostatin secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0090274	Any process that increases the rate, frequency, extent of the regulated release of somatostatin from secretory granules in the D cells of the pancreas.	
HGNC:11397	PLK4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11397		
GO:0090277	positive regulation of peptide hormone secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0090277	Any process that increases the rate, frequency, or extent of the regulated release of a peptide hormone from secretory granules.	
GO:0090278	negative regulation of peptide hormone secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0090278	Any process that decreases the rate, frequency, or extent of the regulated release of a peptide hormone from secretory granules.	
GO:0031946	regulation of glucocorticoid biosynthetic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0031946	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glucocorticoids.	
GO:0031947	negative regulation of glucocorticoid biosynthetic process	biolink:OntologyClass	mondo			down regulation of glucocorticoid biosynthetic process|inhibition of glucocorticoid biosynthetic process|downregulation of glucocorticoid biosynthetic process|down-regulation of glucocorticoid biosynthetic process	http://purl.obolibrary.org/obo/GO_0031947	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glucocorticoids.	
GO:0031944	negative regulation of glucocorticoid metabolic process	biolink:OntologyClass	mondo			negative regulation of glucocorticoid metabolism|downregulation of glucocorticoid metabolic process|down regulation of glucocorticoid metabolic process|inhibition of glucocorticoid metabolic process|down-regulation of glucocorticoid metabolic process	http://purl.obolibrary.org/obo/GO_0031944	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving glucocorticoids.	
GO:0031945	positive regulation of glucocorticoid metabolic process	biolink:OntologyClass	mondo			stimulation of glucocorticoid metabolic process|up regulation of glucocorticoid metabolic process|up-regulation of glucocorticoid metabolic process|activation of glucocorticoid metabolic process|positive regulation of glucocorticoid metabolism|upregulation of glucocorticoid metabolic process	http://purl.obolibrary.org/obo/GO_0031945	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving glucocorticoids.	
GO:0031943	regulation of glucocorticoid metabolic process	biolink:OntologyClass	mondo			regulation of glucocorticoid metabolism	http://purl.obolibrary.org/obo/GO_0031943	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving glucocorticoids.	
UBERON:0008817	thymus primordium endoderm	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0008817	An endoderm that is part of a thymus primordium.	
UBERON:0008819	inferior mediastinum	biolink:AnatomicalEntity	mondo			inferior mediastinal part of chest	http://purl.obolibrary.org/obo/UBERON_0008819	Anterior, middle and posterior mediastinum.	
GO:0031948	positive regulation of glucocorticoid biosynthetic process	biolink:OntologyClass	mondo			up-regulation of glucocorticoid biosynthetic process|up regulation of glucocorticoid biosynthetic process|activation of glucocorticoid biosynthetic process|stimulation of glucocorticoid biosynthetic process|upregulation of glucocorticoid biosynthetic process	http://purl.obolibrary.org/obo/GO_0031948	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glucocorticoids.	
HGNC:11367	STAT5B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11367		
UBERON:0008822	posterior mediastinum	biolink:AnatomicalEntity	mondo			posterior mediastinal part of chest|mediastinum posterius	http://purl.obolibrary.org/obo/UBERON_0008822	The posterior mediastinum is an irregular triangular space running parallel with the vertebral column.	
HGNC:11365	STAT4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11365		
UBERON:0008823	neural tube derived brain	biolink:AnatomicalEntity	mondo			vertebrate brain	http://purl.obolibrary.org/obo/UBERON_0008823	A brain that develops_from a neural tube.	
UBERON:0008824	duct of epididymis	biolink:AnatomicalEntity	mondo			epididymis duct|epididymal duct	http://purl.obolibrary.org/obo/UBERON_0008824	Any duct branching of of the main epididymis duct.	
GO:0016301	kinase activity	biolink:OntologyClass	mondo			phosphokinase activity	http://purl.obolibrary.org/obo/GO_0016301	Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule.	
HP:0001482	Subcutaneous nodule	biolink:PhenotypicFeature	mondo	UMLS:C0151811|UMLS:C0746926|SNOMEDCT_US:95325000	hposlim_core	Growth of abnormal tissue under the skin|Firm lump under the skin|Nodule below the skin|Subcutaneous nodules|Multiple, subcutaneous nodules	http://purl.obolibrary.org/obo/HP_0001482	Slightly elevated lesions on or in the skin with a diameter of over 5 mm.	
HGNC:11364	STAT3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11364		
HGNC:11363	STAT2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11363		
HP:0001480	Freckling	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:403536009|SNOMEDCT_US:699225003|MSH:D008548|UMLS:C0016689		Freckling	http://purl.obolibrary.org/obo/HP_0001480	The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.	
HGNC:11362	STAT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11362		
GO:0031933	obsolete telomeric heterochromatin	biolink:OntologyClass	mondo			telomeric chromatin	http://purl.obolibrary.org/obo/GO_0031933	OBSOLETE. Heterochromatic regions of the chromosome found at the telomeres.	
GO:0004339	glucan 1,4-alpha-glucosidase activity	biolink:OntologyClass	mondo			1,4-alpha-D-glucan glucohydrolase activity|amyloglucosidase activity|gamma-1,4-glucan glucohydrolase activity|glucose amylase activity|glucoamylase activity|lysosomal alpha-glucosidase activity|exo-1,4-alpha-glucosidase activity|gamma-amylase activity	http://purl.obolibrary.org/obo/GO_0004339	Catalysis of the hydrolysis of terminal (1->4)-linked alpha-D-glucose residues successively from non-reducing ends of the chains with release of beta-D-glucose.	
GO:0006997	nucleus organization	biolink:OntologyClass	mondo			nuclear organization and biogenesis|nucleus organization and biogenesis|nuclear organisation|nuclear morphology|nuclear organization	http://purl.obolibrary.org/obo/GO_0006997	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the nucleus.	
GO:0004336	galactosylceramidase activity	biolink:OntologyClass	mondo			beta-galactosylceramidase activity|galactocerebrosidase activity|ceramide galactosidase activity|galactosylceramide beta-galactosidase activity|galactosylceramidase I|D-galactosyl-N-acylsphingosine galactohydrolase activity|cerebroside galactosidase activity|galcerase activity|galactocerebroside beta-galactosidase activity|galactocerebroside galactosidase activity|cerebroside beta-galactosidase activity|galactosylcerebrosidase activity|lactosylceramidase activity|galactocerebroside-beta-D-galactosidase activity|lactosylceramidase I|beta-galactocerebrosidase activity	http://purl.obolibrary.org/obo/GO_0004336	Catalysis of the reaction: D-galactosyl-N-acylsphingosine + H2O = D-galactose + N-acylsphingosine.	
GO:0006996	organelle organization	biolink:OntologyClass	mondo			single organism organelle organization|single-organism organelle organization|organelle organization and biogenesis|organelle organisation	http://purl.obolibrary.org/obo/GO_0006996	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an organelle within a cell. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane.	
GO:0004332	fructose-bisphosphate aldolase activity	biolink:OntologyClass	mondo			D-fructose-1,6-bisphosphate D-glyceraldehyde-3-phosphate-lyase activity|1,6-diphosphofructose aldolase activity|fructoaldolase activity|aldolase activity|fructose 1-phosphate aldolase activity|ketose 1-phosphate aldolase activity|fructose 1-monophosphate aldolase activity|D-fructose-1,6-bisphosphate D-glyceraldehyde-3-phosphate-lyase (glycerone-phosphate-forming)|zymohexase activity|fructose-1,6-bisphosphate triosephosphate-lyase activity|fructose diphosphate aldolase activity|phosphofructoaldolase activity|SMALDO|fructose 1,6-diphosphate aldolase activity|diphosphofructose aldolase activity	http://purl.obolibrary.org/obo/GO_0004332	Catalysis of the reaction: D-fructose 1,6-bisphosphate = glycerone phosphate + D-glyceraldehyde-3-phosphate.	
UBERON:0008810	nasopalatine nerve	biolink:AnatomicalEntity	mondo			nasopalatine nerves|nasopalatine|Scarpa's nerve|nervus nasopalatinus|naso-palatine nerve	http://purl.obolibrary.org/obo/UBERON_0008810	A branch of that maxillary nerve that innervates the mucous membrane of the hard palate.	
UBERON:0008811	intromittent organ	biolink:AnatomicalEntity	mondo			aedeagus|penis|copulatory organ	http://purl.obolibrary.org/obo/UBERON_0008811	An external organ of a male organism that is specialized to deliver sperm during copulation. Intromittent organs are found most often in terrestrial species, as most aquatic species fertilize their eggs externally, although there are exceptions[WP].	
UBERON:0008814	pharyngeal arch system	biolink:AnatomicalEntity	mondo			pharyngeal complex|pharyngeal arches and clefts|pharyngeal arch region|embryonic pharyngeal complex|pharyngeal apparatus|pharyngeal arch complex|pharyngeal system	http://purl.obolibrary.org/obo/UBERON_0008814	A transient embryonic complex that comprises the pharyngeal arches, bulges of tissues of mesoderm and neural crest derivation through which pass nerves and pharyngeal arch arteries. The arches are separated internally by pharyngeal pouches, evaginations of foregut endoderm, and externally by pharyngeal clefts, invaginations of surface ectoderm. The development of the system ends when the stucture it contributes to are forming, which may include (depending on species) the thymus, thyroid, parathyroids, maxilla, mandible, aortic arch, cardiac outflow tract, external and middle ear[GO,modified].	
UBERON:0008816	embryonic head	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0008816	A head that is part of a embryo.	
GO:0016310	phosphorylation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016310	The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide.	
GO:0016311	dephosphorylation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016311	The process of removing one or more phosphoric (ester or anhydride) residues from a molecule.	
GO:0006968	cellular defense response	biolink:OntologyClass	mondo			intracellular defense response|intracellular defence response|cellular defence response	http://purl.obolibrary.org/obo/GO_0006968	A defense response that is mediated by cells.	
HGNC:25985	PIGG	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25985		
UBERON:0008801	parotid gland primordium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0008801		
UBERON:0008803	skin of cheek	biolink:AnatomicalEntity	mondo			cheek skin	http://purl.obolibrary.org/obo/UBERON_0008803	A zone of skin that is part of a cheek.	
UBERON:0008805	gingival groove	biolink:AnatomicalEntity	mondo			sulcus gingivalis|gingival sulcus|sulcus gingivalis|tooth-gingiva interface	http://purl.obolibrary.org/obo/UBERON_0008805	The gingival sulcus is an area of potential space between a tooth and the surrounding gingival tissue and is lined by sulcular epithelium. The depth of the sulcus (Latin for groove) is bounded by two entities: apically by the gingival fibers of the connective tissue attachment and coronally by the free gingival margin.	
GO:0006974	cellular response to DNA damage stimulus	biolink:OntologyClass	mondo			DNA damage response|cellular DNA damage response|response to genotoxic stress|response to DNA damage stimulus	http://purl.obolibrary.org/obo/GO_0006974	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism.	
HGNC:23338	ACBD5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23338		
HGNC:25994	NSUN2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25994		
HGNC:11356	STAG3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11356		
GO:0018958	phenol-containing compound metabolic process	biolink:OntologyClass	mondo			hydroxybenzene metabolism|carbolic acid metabolic process|phenol-containing compound metabolism|carbolic acid metabolism|hydroxybenzene metabolic process	http://purl.obolibrary.org/obo/GO_0018958	The chemical reactions and pathways involving a phenol, any compound containing one or more hydroxyl groups directly attached to an aromatic carbon ring.	
HP:0025423	Abnormal larynx morphology	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0025423	Any anomaly of the structure of the larynx.	
HGNC:11354	STAG1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11354		
HP:0025426	Abnormal bronchus morphology	biolink:PhenotypicFeature	mondo			Abnormality of the bronchi	http://purl.obolibrary.org/obo/HP_0025426	Any anomaly of the morphology of the bronchi.	
HGNC:11359	STAR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11359		
HGNC:4601	GRN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4601		
MONDO:0022462	anophthalmia esophageal atresia cryptorchidism	biolink:Disease	mondo	GARD:0000716	n_of_one|gard_rare		http://purl.obolibrary.org/obo/MONDO_0022462	A syndrome characterized by bilateral anophthalmia, esophageal atresia, and cryptorchidism.	
MONDO:0022463	obsolete anophthalmia megalocornea cardiopathy skeletal anomalies	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0022463		
MONDO:0022464	obsolete anophthalmia microcephaly hypogonadism	biolink:Disease	mondo	GARD:0000718			http://purl.obolibrary.org/obo/MONDO_0022464		
MONDO:0022465	anotia facial palsy cardiac defect	biolink:Disease	mondo	GARD:0000725	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022465	A syndrome characterized by anotia (congenital absence of the pinna) with a normal cochlea and vestibular apparatus, with facial paralysis caused by congenital absence of the entire right facial nerve, and congenital heart disease, which may present as atrioventricular septal defects or variations of tetralogy of Fallot.	
MONDO:0022468	antigen-peptide-transporter 2 deficiency	biolink:Disease	mondo	GARD:0000732	gard_rare	TAP 2 deficiency|antigen processing (TAP) deficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0022468	An inborn errors of metabolism disorder caused by homozygosity for mutations in the TAP2 gene. It is characterizeed by nonhealing, chronic, ulcerative granulomatous leg lesions combined with recurrent otitis media and sinopulmonary infections.	
MONDO:0022469	obsolete aortic arches defect	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0022469		
MONDO:0009489	hereditary palmoplantar keratoderma, Gamborg-Nielsen type	biolink:Disease	mondo	OMIM:244850|ICD10:Q82.8|MESH:C565454|Orphanet:86923|SCTID:717228004	ordo_disease	palmoplantar keratoderma, Norrbotten recessive type; PPKNR|PPK, Gamborg-Nielsen type|hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type|PPKNR|palmoplantar keratoderma, Norrbotten recessive type	http://purl.obolibrary.org/obo/MONDO_0009489	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterised by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive.	SNOMEDCT:717228004|ORPHA:86923|MESH:C565454|http://identifiers.org/omim/244850
MONDO:0009488	keratoconus posticus circumscriptus	biolink:Disease	mondo	OMIM:244600|UMLS:C1855645|GARD:0003091	gard_rare	keratoconus posticus CIRCUMSCRIPTUS; KPC|keratoconus posticus circumscriptus|KPC|Kpc with associated malformations	http://purl.obolibrary.org/obo/MONDO_0009488		http://identifiers.org/omim/244600|UMLS:C1855645
HP:0001608	Abnormality of the voice	biolink:PhenotypicFeature	mondo	UMLS:C4021776		Voice abnormality|Abnormality of the voice	http://purl.obolibrary.org/obo/HP_0001608		
MONDO:0009487	keratoconus and congenital hip dysplasia	biolink:Disease	mondo	UMLS:C1855647|OMIM:244510|MESH:C565456		keratoconus and congenital hip dysplasia	http://purl.obolibrary.org/obo/MONDO_0009487		http://identifiers.org/omim/244510|MESH:C565456|UMLS:C1855647
HP:0001609	Hoarse voice	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:50219008|UMLS:C0019825|MSH:D006685|UMLS:C1854348		Husky voice|Hoarseness|Hoarse voice	http://purl.obolibrary.org/obo/HP_0001609	Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.	
MONDO:0009486	autosomal recessive Kenny-Caffey syndrome	biolink:Disease	mondo	UMLS:C1855648|ICD10:Q87.1|OMIM:244460|GARD:0008367|NCIT:C130992|Orphanet:93324|MESH:C537021	gard_rare|ordo_etiological_subtype	Kenny-Caffey syndrome, type 1|Kcs|Kenny-Caffey syndrome, type 1; KCS1|KCS1|Kenny-Caffey syndrome type 1|Kenny-Caffey syndrome, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009486	An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet.	MESH:C537021|http://identifiers.org/omim/244460|UMLS:C1855648|NCIT:C130992|ORPHA:93324
MONDO:0022460	obsolete anophthalmia cleft lip palate hypothalamic disorder	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0022460		
MONDO:0009485	oculocerebrofacial syndrome, Kaufman type	biolink:Disease	mondo	OMIM:244450|Orphanet:2707|GARD:0003084|SCTID:722056009|MESH:C537013|ICD10:Q87.0|DOID:0111456|UMLS:C1855663	ordo_malformation_syndrome	Kaufman oculocerebrofacial syndrome|Kaufman oculocerebrofacial syndrome; kos|blepharophimosis-ptosis-intellectual disability syndrome|severe intellectual disability, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet|blepharophimosis-ptosis-intellectual disability syndrome; BPIDS|KOS|severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet	http://purl.obolibrary.org/obo/MONDO_0009485		MESH:C537013|ORPHA:2707|http://identifiers.org/omim/244450|DOID:0111456|UMLS:C1855663|SNOMEDCT:722056009
MONDO:0022461	anophthalmia cleft palate micrognathia	biolink:Disease	mondo	GARD:0000715	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022461	A syndrome characterized by bilateral anophthalmos, hypospadias, bifid scrotum, micrognathia, and cleft palate with normal chromosomes.	
HP:0001607	Subglottic stenosis	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:22668006|UMLS:C0238441			http://purl.obolibrary.org/obo/HP_0001607		
MONDO:0009484	primary ciliary dyskinesia 1	biolink:Disease	mondo	ICD10:Q34.8|OMIM:244400|Orphanet:98861|DOID:0110594		immotile cilia syndrome|ciliary dyskinesia, primary, 1|Kartagener syndrome|PCD|ciliary dyskinesia, primary, 1; CILD1|DNAI1 primary ciliary dyskinesia|dextrocardia, bronchiectasis, and sinusitis|ciliary dyskinesia, primary, 1, with or without situs inversus|Polynesian bronchiectasis|primary ciliary dyskinesia caused by mutation in DNAI1|primary ciliary dyskinesia type 1|CILD1|primary ciliary dyskinesia 1 with or without situs inversus|Siewert syndrome|ciliary dyskinesia, primary, type 1	http://purl.obolibrary.org/obo/MONDO_0009484	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI1 gene.	http://identifiers.org/omim/244400|ORPHA:98861|DOID:0110594
MONDO:0010484	deafness, X-linked 6	biolink:Disease	mondo	UMLS:C3806737|OMIM:300914|DOID:0111740	clingen	COL4A6 X-linked nonsyndromic deafness|DFNX6|deafness, X-linked 6; DFNX6|X-linked nonsyndromic deafness caused by mutation in COL4A6|deafness, X-linked type 6|deafness, X-linked 6	http://purl.obolibrary.org/obo/MONDO_0010484	Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the COL4A6 gene.	UMLS:C3806737|http://identifiers.org/omim/300914|DOID:0111740
HGNC:11445	STXBP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11445		
MONDO:0010483	X-linked intellectual disability, Cantagrel type	biolink:Disease	mondo	Orphanet:85277|OMIM:300912|UMLS:C3806730|SCTID:719016007|ICD10:Q87.8	ordo_malformation_syndrome	intellectual disability, X-linked 98; MRX98|intellectual disability, X-linked type 98|intellectual disability, X-linked 98|mental retardation, X-linked 98|mental retardation, X-linked 98; MRX98|MRX98|mental retardation, X-linked type 98	http://purl.obolibrary.org/obo/MONDO_0010483	X-linked Mental retardation Cantagrel type is characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.	UMLS:C3806730|http://identifiers.org/omim/300912|ORPHA:85277|SNOMEDCT:719016007
MONDO:0009483	kapur-Toriello syndrome	biolink:Disease	mondo	SCTID:722031003|Orphanet:2328|GARD:0003078|OMIM:244300|ICD10:Q87.8|UMLS:C0796005|MESH:C537008	gard_rare|ordo_malformation_syndrome	long columella with cleft Lip/palate and eye, heart, and intestinal anomalies|cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome|kapur Toriello syndrome|kapur-Toriello syndrome|long columella with cleft lip/palate and eye, heart and intestinal anomalies	http://purl.obolibrary.org/obo/MONDO_0009483	Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation.	ORPHA:2328|MESH:C537008|http://identifiers.org/omim/244300|SNOMEDCT:722031003|UMLS:C0796005
HGNC:11444	STXBP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11444		
MONDO:0009482	hypogonadotropic hypogonadism 3 with or without anosmia	biolink:Disease	mondo	UMLS:C3550478|OMIM:244200|DOID:0090092|GARD:0003073|ICD10:E23.0		KAL3|HH3|hypogonadotropic hypogonadism 3 with or without anosmia; HH3|Kallmann syndrome 3|hypogonadotropic hypogonadism 3 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in PROKR2|PROKR2 hypogonadotropic hypogonadism	http://purl.obolibrary.org/obo/MONDO_0009482	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROKR2 gene.	http://identifiers.org/omim/244200|DOID:0090092|UMLS:C3550478
MONDO:0010486	palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked	biolink:Disease	mondo	UMLS:C3806745|OMIM:300918		palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked|Olmsted syndrome, X-linked	http://purl.obolibrary.org/obo/MONDO_0010486		UMLS:C3806745|http://identifiers.org/omim/300918
MONDO:0010485	X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome	biolink:Disease	mondo	ICD10:Q87.0|UMLS:C3806742|Orphanet:431140|OMIM:300915	ordo_malformation_syndrome	X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome|microphthalmia, syndromic type 13|microphthalmia, syndromic 13|Maine microphthalmos|microphthalmia, syndromic 13; MCOPS13|colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation|MCOPS13	http://purl.obolibrary.org/obo/MONDO_0010485	X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.	ORPHA:431140|UMLS:C3806742|http://identifiers.org/omim/300915
MONDO:0009481	Jumping Frenchmen of Maine	biolink:Disease	mondo	OMIM:244100|GARD:0006803		Jumping Frenchmen of Maine|exaggerated startle reflex|'jumpers' of Maine	http://purl.obolibrary.org/obo/MONDO_0009481		http://identifiers.org/omim/244100
MONDO:0010488	intellectual disability, X-linked 100	biolink:Disease	mondo	OMIM:300923|UMLS:C3890167		MRX100|mental retardation, X-linked type 100|mental retardation, X-linked 100; MRX100|non-syndromic X-linked intellectual disability caused by mutation in KIF4A|intellectual disability, X-linked 100|intellectual disability, X-linked type 100|KIF4A non-syndromic X-linked intellectual disability|mental retardation, X-linked 100|intellectual disability, X-linked 100; MRX100	http://purl.obolibrary.org/obo/MONDO_0010488	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KIF4A gene.	http://identifiers.org/omim/300923|UMLS:C3890167
MONDO:0009480	Joubert syndrome with oculorenal defect	biolink:Disease	mondo	SCTID:721862000|Orphanet:2318|UMLS:C1855675|MESH:C537430|OMIM:243910|GARD:0009455|ICD10:Q04.3	ordo_disease|gard_rare	CORS|Dekaban-Arima syndrome|Joubert syndrome 5|JS type B|Cerebellooculorenal syndrome|Joubert syndrome with oculorenal defect|Joubert syndrome with Senior-Loken syndrome|Dekaban Arima syndrome|cerebrooculohepatorenal syndrome|Arima syndrome|chorioretinal coloboma with cerebellar vermis aplasia|cerebello-oculo-renal syndrome|coloboma, chorioretinal, with cerebellar vermis aplasia|Joubert syndrome with oculorenal anomalies|Joubert syndrome with bilateral chorioretinal coloboma|JS-OR|cerebro-oculo-hepato-renal syndrome	http://purl.obolibrary.org/obo/MONDO_0009480	Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease.	MESH:C537430|SNOMEDCT:721862000|UMLS:C1855675|http://identifiers.org/omim/243910|ORPHA:2318
HP:0001600	Abnormality of the larynx	biolink:PhenotypicFeature	mondo	UMLS:C4021777		Laryngeal anomalies|Laryngeal abnormalities	http://purl.obolibrary.org/obo/HP_0001600	An abnormality of the larynx.	
HGNC:11449	SUCLG1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11449		
MONDO:0010487	intellectual disability, X-linked 99	biolink:Disease	mondo	UMLS:C3806746|OMIM:300919		mental retardation, X-linked 99|MRX99|mental retardation, X-linked 99; MRX99|mental retardation, X-linked type 99|USP9X non-syndromic X-linked intellectual disability|non-syndromic X-linked intellectual disability caused by mutation in USP9X|intellectual disability, X-linked type 99|intellectual disability, X-linked 99; MRX99|intellectual disability, X-linked 99	http://purl.obolibrary.org/obo/MONDO_0010487	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP9X gene.	UMLS:C3806746|http://identifiers.org/omim/300919
HGNC:11448	SUCLA2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11448		
MONDO:0010489	intellectual disability, X-linked 101	biolink:Disease	mondo	OMIM:300928|UMLS:C3890168		MID2 non-syndromic X-linked intellectual disability|intellectual disability, X-linked 101; MRX101|mental retardation, X-linked 101|non-syndromic X-linked intellectual disability caused by mutation in MID2|MRX101|intellectual disability, X-linked 101|mental retardation, X-linked type 101|intellectual disability, X-linked type 101|mental retardation, X-linked 101; MRX101	http://purl.obolibrary.org/obo/MONDO_0010489	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the MID2 gene.	http://identifiers.org/omim/300928|UMLS:C3890168
HGNC:23419	KIFBP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23419		
MONDO:0010480	anemia, nonspherocytic hemolytic, due to G6PD deficiency	biolink:Disease	mondo	UMLS:C2720289|OMIM:300908|MESH:C567533		anemia, nonspherocytic hemolytic, due to G6PD deficiency	http://purl.obolibrary.org/obo/MONDO_0010480		UMLS:C2720289|http://identifiers.org/omim/300908|MESH:C567533
MONDO:0010482	X-linked parkinsonism-spasticity syndrome	biolink:Disease	mondo	UMLS:C3806722|ICD10:G20|Orphanet:363654|OMIM:300911	ordo_disease	PARKINSONISM with spasticity, X-linked; XPDS|PARKINSONISM with spasticity, X-linked|XPDS	http://purl.obolibrary.org/obo/MONDO_0010482	X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign.	UMLS:C3806722|http://identifiers.org/omim/300911|ORPHA:363654
MONDO:0010481	angioedema	biolink:Disease	mondo	COHD:432791|ICD9:995.1|DOID:1558|SCTID:400075008|MESH:D000799|CSP:2716-7007|ICD10:T78.3|EFO:0005532|HP:0100665		Urticarias, giant|urticaria, giant|angioneurotic oedema|Edemas, angioneurotic|angioneurotic edema|angioneurotic Edemas|edema, angioneurotic|giant urticaria|giant Urticarias|edema, Quincke's|Quincke's edema|Quincke edema|angioneurotic edema|Quinckes edema|angioedemas	http://purl.obolibrary.org/obo/MONDO_0010481	Swelling involving the deep dermis, subcutaneous, or submucosal tissues, representing localized edema. Angioedema often occurs in the face, lips, tongue, and larynx.	NCIT:C112175|DOID:1558|SNOMEDCT:400075008|MESH:D000799
MONDO:0022453	angiomyomatous hamartoma	biolink:Disease	mondo	UMLS:C2959445|GARD:0008313	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022453	An uncommon benign proliferation of smooth muscle, blood vessels, collagenous stroma, and adipocytes, most commonly affecting inguinal lymph node.	UMLS:C2959445
MONDO:0022454	angiosarcoma of the scalp	biolink:Disease	mondo	GARD:0005814	gard_rare	scalp angiosarcoma (disease)|angiosarcoma (disease) of scalp	http://purl.obolibrary.org/obo/MONDO_0022454	Angiosarcoma of the scalp is a rare cancer which most commonly affects the elderly. This condition is characterized by bruise-like lesions that escalate to elevated, nodular, or ulcerated tumors. Extensive local growth is common and metastasis to regional lymph nodes and to the lungs may occur. The cause of angiosarcoma of the scalp is unknown, although several associations have been reported, including lymphedema, prior radiation treatment, and environmental exposures. Treatment may include surgery, radiation and chemotherapy.	
MONDO:0022456	ankle defects short stature	biolink:Disease	mondo	GARD:0000694	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022456		
MONDO:0022457	ankyloblepharon filiforme imperforate anus	biolink:Disease	mondo	GARD:0000697	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022457		
MONDO:0022458	annular constricting bands	biolink:Disease	mondo	GARD:0000704	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022458	A syndrome characterized by congenital constriction bands, often deformity of the nails with distally located bands, and commonly a malformation of the hand.	
MONDO:0010469	epsilon-trimethyllysine hydroxylase deficiency	biolink:Disease	mondo	OMIM:300872|UMLS:C3550875	predisposition	susceptibility to X-linked autism 6|TMLHED|EPSILON-trimethyllysine HYDROXYLASE deficiency; TMLHED|AUTSX6|autism, susceptibility to, X-linked 6; AUTSX6|autism, susceptibility to, X-linked 6|epsilon-trimethyllysine hydroxylase deficiency	http://purl.obolibrary.org/obo/MONDO_0010469		http://identifiers.org/omim/300872|UMLS:C3550875
MONDO:0009499	Krabbe disease	biolink:Disease	mondo	MESH:D007965|Orphanet:487|OMIM:245200|MedDRA:10023492|SCTID:189979005|DOID:10587|ICD10:E75.2|GARD:0006844|ICD10:E75.23|NCIT:C61254|UMLS:C0023521	ordo_disease	Krabbe's disease|Krabbe disease|beta galactocerebrosidase deficiency|galactosylceramide Beta-galactosidase deficiency|globoid cell leukodystrophy|Krabbe leukodystrophy|galactocerebrosidase deficiency|GALC deficiency|globoid cell leukoencephalopathy|galactosylceramidase deficiency|GLD|Krabbe's leukodystrophy|diffuse globoid body sclerosis|galactosylceramide lipidosis	http://purl.obolibrary.org/obo/MONDO_0009499	Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms.	http://identifiers.org/omim/245200|MEDDRA:10023492|ORPHA:487|NCIT:C61254|UMLS:C0023521|MESH:D007965|DOID:10587|SNOMEDCT:189979005
MONDO:0009498	lethal Kniest-like dysplasia	biolink:Disease	mondo	Orphanet:2347|OMIM:245190|GARD:0003124|ICD10:Q77.8|MESH:C537208|UMLS:C1855605	gard_rare|ordo_malformation_syndrome	Kniest-like dysplasia, lethal|arthrosis, flat face, hypotonia, short neck and macrocephaly|Kniest like dysplasia lethal	http://purl.obolibrary.org/obo/MONDO_0009498	Lethal Kniest-like dysplasia is a severe lethal skeletal dysplasia. It has been described in two sibs (one male and one female) born to nonconsanguineous parents. It is characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities.	ORPHA:2347|http://identifiers.org/omim/245190|MESH:C537208|UMLS:C1855605
MONDO:0009497	Kifafa seizure disorder	biolink:Disease	mondo	UMLS:C0796010|OMIM:245180|MESH:C537708|GARD:0008420	gard_rare	Complex familial seizure disorder|parkinsonian features and neurologic abnormalities, intellectual disability and transient psychotic episodes|parkinsonian features and neurologic abnormalities, mental retardation and transient psychotic episodes|Kifafa seizure disorder|Vitsala	http://purl.obolibrary.org/obo/MONDO_0009497		http://identifiers.org/omim/245180|MESH:C537708|UMLS:C0796010
MONDO:0009496	Kniest-like dysplasia with pursed lips and ectopia lentis	biolink:Disease	mondo	UMLS:C1855606|GARD:0010512|OMIM:245160		Kniest-like dysplasia with pursed lips and ectopia lentis|burton syndrome	http://purl.obolibrary.org/obo/MONDO_0009496		UMLS:C1855606|http://identifiers.org/omim/245160
HP:0001618	Dysphonia	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:47004009|MSH:D055154|UMLS:C1527344		Inability to produce voice sounds	http://purl.obolibrary.org/obo/HP_0001618	An impairment in the ability to produce voice sounds.	
MONDO:0009495	Keutel syndrome	biolink:Disease	mondo	UMLS:C1855607|OMIM:245150|MESH:C536167|GARD:0008449|ICD10:Q87.8|Orphanet:85202|SCTID:724208006	gard_rare|ordo_malformation_syndrome	KTLS|KEUTEL syndrome; KTLS|pulmonic stenosis, brachytelephalangism, and calcification of cartilages|Keutel syndrome|pulmonic stenosis brachytelephalangism and calcification of cartilages|pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome	http://purl.obolibrary.org/obo/MONDO_0009495	Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.	ORPHA:85202|MESH:C536167|UMLS:C1855607|SNOMEDCT:724208006|http://identifiers.org/omim/245150
MONDO:0010473	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	biolink:Disease	mondo	DOID:0060828|OMIM:300886|Orphanet:324410|UMLS:C3550913	ordo_disease	mental retardation, X-linked, syndromic 32|mental retardation, X-linked, syndromic type 32|intellectual disability, X-linked, syndromic type 32|mental retardation, X-linked, syndromic 32; MRXS32|intellectual disability, X-linked, syndromic 32; MRXS32|MRXS32|intellectual disability, X-linked, syndromic 32	http://purl.obolibrary.org/obo/MONDO_0010473	A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has material basis in mutation in the CLIC2 gene on chromosome Xq28.	DOID:0060828|ORPHA:324410|http://identifiers.org/omim/300886|UMLS:C3550913
MONDO:0010472	developmental and epileptic encephalopathy, 36	biolink:Disease	mondo	SCTID:733451007|GARD:0012401|DOID:0080470|ICD10:E77.8|UMLS:C3550904|Orphanet:324422|OMIM:300884	ordo_disease	epileptic encephalopathy, early infantile, 36|CDG syndrome type Is|EIEE36|congenital disorder of glycosylation type Is|DEE36|epileptic encephalopathy, early infantile, 36; EIEE36|CDG Is|ALG13-CDG|congenital disorder of glycosylation, type Is; CDG1S|congenital disorder of glycosylation type 1s|CDG-Is|congenital disorder of glycosylation, type Is|CDG1S	http://purl.obolibrary.org/obo/MONDO_0010472		ORPHA:324422|SNOMEDCT:733451007|http://identifiers.org/omim/300884|UMLS:C3550904|DOID:0080470
MONDO:0009494	Ketoadipicaciduria	biolink:Disease	mondo	UMLS:C1855626|MESH:C565453|OMIM:245130		Ketoadipicaciduria	http://purl.obolibrary.org/obo/MONDO_0009494		MESH:C565453|UMLS:C1855626|http://identifiers.org/omim/245130
MONDO:0010475	X-linked central congenital hypothyroidism with late-onset testicular enlargement	biolink:Disease	mondo	NCIT:C130989|ICD10:E03.1|UMLS:C3550963|Orphanet:329235|DOID:0111140|OMIM:300888	ordo_disease	hypothyroidism Central and testicular enlargement|X-linked central congenital hypothyroidism with late-onset macroorchidism|IGSF1 deficiency syndrome|CHTE|hypothyroidism, central, and testicular enlargement; CHTE|hypothyroidism, central, and testicular enlargement|central hypothyroidism and testicular enlargement|X-linked central congenital hypothyroidism with late-onset testicular enlargement|Immunoglobulin superfamily member 1 deficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0010475	An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency.	NCIT:C130989|http://identifiers.org/omim/300888|UMLS:C3550963|ORPHA:329235|DOID:0111140
MONDO:0009493	Richards-Rundle syndrome	biolink:Disease	mondo	MESH:C535674|UMLS:C0796136|Orphanet:1399|ICD10:G60.2|SCTID:715415005|OMIM:245100|GARD:0008423	ordo_malformation_syndrome	ataxia-deafness-intellectual disability syndrome|RICHARDS-RUNDLE syndrome; RRNS|ataxia-deafness-mental retardation syndrome|ketoaciduria-intellectual disability-ataxia-deafness syndrome|RRNS|familial ataxia-hypogonadism syndrome|ketoaciduria - intellectual disability - ataxia - deafness|ketoaciduria-mental deficiency syndrome|Richards-Rundle syndrome|ataxia-deafness-retardation syndrome with ketoaciduria	http://purl.obolibrary.org/obo/MONDO_0009493	Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria.	ORPHA:1399|MESH:C535674|UMLS:C0796136|SNOMEDCT:715415005|http://identifiers.org/omim/245100
MONDO:0009492	succinyl-CoA:3-ketoacid CoA transferase deficiency	biolink:Disease	mondo	MESH:C537527|Orphanet:832|OMIM:245050|SCTID:238004006|ICD10:E71.3|GARD:0004774|ICD9:270.8	ordo_disease	Scot deficiency|SCOTD|OXCT1 deficiency|succinyl-CoA:3-oxoacid-CoA transferase deficiency; SCOTD|succinyl-CoA:3-oxoacid-CoA transferase deficiency|succinyl-CoA acetoacetate transferase deficiency|3-oxoacid CoA transferase deficiency|succinyl-CoA:3-oxoacid CoA transferase deficiency|ketoacidosis due to Scot deficiency|succinyl-Coa:acetoacetate transferase deficiency|succinyl-Coa:3-ketoacid Coa-transferase deficiency|SCOT deficiency	http://purl.obolibrary.org/obo/MONDO_0009492	Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis.	MESH:C537527|ORPHA:832|SNOMEDCT:238004006|http://identifiers.org/omim/245050
MONDO:0010474	linear skin defects with multiple congenital anomalies 2	biolink:Disease	mondo	UMLS:C3550921|OMIM:300887		linear skin defects with multiple congenital anomalies 2; LSDMCA2|microphthalmia with linear skin defects syndrome caused by mutation in COX7B|linear skin defects with multiple congenital anomalies type 2|linear skin defects with multiple congenital anomalies 2|LSDMCA2|aplasia cutis congenita, Reticulolinear, with microcephaly, Facial Dysmorphism, and Other congenital anomalies|COX7B microphthalmia with linear skin defects syndrome	http://purl.obolibrary.org/obo/MONDO_0010474	Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the COX7B gene.	http://identifiers.org/omim/300887|UMLS:C3550921
MONDO:0009491	Haim-Munk syndrome	biolink:Disease	mondo	UMLS:C1855627|GARD:0000044|ICD10:Q82.8|MESH:C537627|Orphanet:2342|OMIM:245010|SCTID:719973009	ordo_disease|gard_rare	keratosis palmoplantaris with periodontopathia and onychogryposis|Cochin Jewish disorder|palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome|palmoplantar keratoderma-periodontopathia-onychogryposis syndrome|keratosis palmoplantaris-periodontopathia-onychogryposis syndrome|HAIM-Munk syndrome; HMS|Haim-Munk syndrome|HMS	http://purl.obolibrary.org/obo/MONDO_0009491	Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.	MESH:C537627|UMLS:C1855627|http://identifiers.org/omim/245010|ORPHA:2342|SNOMEDCT:719973009
MONDO:0010477	blepharophimosis - intellectual disability syndrome, MKB type	biolink:Disease	mondo	ICD9:759.89|SCTID:699297004|OMIM:300895|Orphanet:293707|UMLS:C3698541	ordo_malformation_syndrome	OHDOX|Ohdo syndrome, X-linked|blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type|X-linked Ohdo syndrome|blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type|Ohdo syndrome, X-linked; OHDOX|blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type|BMRS, MKB type|BMRS, Maat-Kievit-Brunner type	http://purl.obolibrary.org/obo/MONDO_0010477	The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males.	UMLS:C3698541|ORPHA:293707|http://identifiers.org/omim/300895|SNOMEDCT:699297004
MONDO:0009490	Papillon-Lefevre disease	biolink:Disease	mondo	DOID:3389|MESH:D010214|NCIT:C84992|ICD9:759.89|Orphanet:678|ICD10:Q82.8|GARD:0003100|OMIM:245000|SCTID:40158001|UMLS:C0030360	ordo_disease	Papillon-LEFèvre syndrome|Keratoris palmoplantaris with periodontopathia|PALS|Pls|Papillon-Lefvre syndrome|keratosis palmoplantar-periodontopathy syndrome|palmar-plantar hyperkeratosis and concomitant periodontal destruction|keratosis palmoplantaris with periodontopathia|PAPILLON-Lefevre syndrome; PALS|keratosis palmoplantar - periodontopathy|hyperkeratosis palmoplantaris with periodontosis|PAPILLON-Lefevre syndrome|palmoplantar keratoderma with periodontosis|PLS|Papillon Lefevre syndrome	http://purl.obolibrary.org/obo/MONDO_0009490	Papillon-Lefevre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.	SNOMEDCT:40158001|ORPHA:678|DOID:3389|MESH:D010214|NCIT:C84992|http://identifiers.org/omim/245000|UMLS:C0030360
MONDO:0010476	neurodegeneration with brain iron accumulation 5	biolink:Disease	mondo	SCTID:732959007|UMLS:C3550973|OMIM:300894|Orphanet:329284|GARD:0012570|UMLS:CN168656|DOID:0110739|ICD10:G23.0	ordo_disease	static encephalopathy of childhood with neurodegeneration in adulthood|neurodegeneration with brain iron accumulation 5; NBIA5|SENDA|beta-propeller protein-associated neurodegeneration|neurodegeneration with brain iron accumulation 5|NBIA5|WDR45 neurodegeneration with brain iron accumulation|neurodegeneration with brain iron accululation 5|neurodegeneration with brain iron accumulation type 5|static encephalopathy of childhood with neurdegeneration in adulthood|static encephalopathy Of childhood with neurodegeneration In adulthood|neurodegeneration with brain iron accumulation caused by mutation in WDR45|BPAN	http://purl.obolibrary.org/obo/MONDO_0010476	Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.	DOID:0110739|UMLS:CN168656|SNOMEDCT:732959007|http://identifiers.org/omim/300894|ORPHA:329284|UMLS:C3550973
MONDO:0010479	Charcot-Marie-Tooth disease X-linked dominant 6	biolink:Disease	mondo	Orphanet:352675|DOID:0110207|SCTID:763347000|GARD:0012445|UMLS:C3806702|ICD10:G60.0|OMIM:300905	ordo_disease	CMT6X|Charcot-Marie-Tooth disease, X-linked dominant, 6|Charcot-Marie-Tooth disease X-linked dominant type 6|Charcot-Marie-Tooth disease, X-linked dominant, type 6|Charcot-Marie-Tooth neuropathy, X-linked dominant, 6|X-linked Charcot-Marie-Tooth disease type 6|CMTX6|Charcot-Marie-Tooth neuropathy X-linked dominant 6|Charcot-Marie-Tooth disease, X-linked dominant, 6; CMTX6	http://purl.obolibrary.org/obo/MONDO_0010479	X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles).	SNOMEDCT:763347000|DOID:0110207|UMLS:C3806702|http://identifiers.org/omim/300905|ORPHA:352675
MONDO:0010478	SLC35A2-CDG	biolink:Disease	mondo	UMLS:C3806688|DOID:0070265|OMIM:300896|ICD10:E77.8|Orphanet:356961|GARD:0012403	gard_rare|ordo_inheritance_inconsistent|ordo_disease	EIEE22|epileptic encephalopathy, early infantile, 22; EIEE22|congenital disorder of glycosylation type IIm|congenital disorder of glycosylation, type IIm; CDG2M|CDG syndrome type IIm|congenital disorder of glycosylation type 2m|CDG2M|congenital disorder of glycosylation, type IIm|CDG IIm|CDG-IIm|epileptic encephalopathy, early infantile, 22	http://purl.obolibrary.org/obo/MONDO_0010478	SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).	ORPHA:356961|DOID:0070265|UMLS:C3806688|http://identifiers.org/omim/300896
MONDO:0022448	obsolete amyoplasia mandibulofacial dysostosis	biolink:Disease	mondo	GARD:0000660	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022448		
MONDO:0010471	Cornelia de Lange syndrome 5	biolink:Disease	mondo	DOID:0080509|UMLS:C3550903|OMIM:300882		Cornelia De Lange syndrome type 5|Cornelia de Lange syndrome 5|Cornelia DE Lange syndrome 5; CDLS5|CDLS5	http://purl.obolibrary.org/obo/MONDO_0010471		http://identifiers.org/omim/300882|UMLS:C3550903|DOID:0080509
MONDO:0010470	Baratela-Scott syndrome	biolink:Disease	mondo	UMLS:C3550876|OMIM:300881		Baratela-Scott syndrome	http://purl.obolibrary.org/obo/MONDO_0010470		http://identifiers.org/omim/300881|UMLS:C3550876
IAO:0000409	denotator type	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/IAO_0000409	A denotator type indicates how a term should be interpreted from an ontological perspective.	
MONDO:0022444	amyloidosis bronchopulmonary	biolink:Disease	mondo	GARD:0001026	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022444	Amyloidosis with tracheobronchial deposits in diffuse plaques that can cause stenosis or parenchymal nodules or masses.	
HGNC:23405	LRMDA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23405		
NCBITaxon:314145	Laurasiatheria	organism taxon	mondo	PMID:12878460|PMID:11214319|PMID:11214318|GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_314145		
HGNC:23406	DOLK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23406		
NCBITaxon:314146	Euarchontoglires	organism taxon	mondo	PMID:15522813|PMID:11214319|PMID:12878460|GC_ID:1|PMID:12082125			http://purl.obolibrary.org/obo/NCBITaxon_314146		
MONDO:0022446	obsolete amyloidosis nodular localized cutaneous	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0022446		
NCBITaxon:314147	Glires	organism taxon	mondo	PMID:15522813|PMID:11214319|GC_ID:1|PMID:12082125		Rodents and rabbits	http://purl.obolibrary.org/obo/NCBITaxon_314147		
MONDO:0010459	amyotrophic lateral sclerosis type 15	biolink:Disease	mondo	DOID:0060206|OMIM:300857|UMLS:C3275459		amyotrophic lateral sclerosis caused by mutation in UBQLN2|ALS15|amyotrophic lateral sclerosis 15 with or without frontotemporal dementia|amyotrophic lateral sclerosis 15, with or without frontotemporal dementia|amyotrophic lateral sclerosis 15 with or without frontotemporal dementia; ALS15|amyotrophic lateral sclerosis 15|UBQLN2 amyotrophic lateral sclerosis	http://purl.obolibrary.org/obo/MONDO_0010459	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the UBQLN2 gene.	http://identifiers.org/omim/300857|DOID:0060206|UMLS:C3275459
MONDO:0010458	hypospadias 4, X-linked	biolink:Disease	mondo	OMIM:300856		hypospadias 4, X-linked, susceptibility to|HYSP4|hypospadias 4, X-linked, susceptibility to; HYSP4	http://purl.obolibrary.org/obo/MONDO_0010458		http://identifiers.org/omim/300856
GO:1905030	voltage-gated ion channel activity involved in regulation of postsynaptic membrane potential	biolink:OntologyClass	mondo			voltage-dependent ion channel activity involved in regulation of post-synaptic membrane potential|voltage-dependent ion channel activity involved in regulation of postsynaptic membrane potential|voltage-gated ion channel activity involved in regulation of post-synaptic membrane potential|voltage gated ion channel activity involved in regulation of post-synaptic membrane potential|voltage gated ion channel activity involved in regulation of postsynaptic membrane potential	http://purl.obolibrary.org/obo/GO_1905030	Any voltage-gated ion channel activity that is involved in regulation of postsynaptic membrane potential.	
MONDO:0009469	benign recurrent intrahepatic cholestasis type 1	biolink:Disease	mondo	GARD:0010028|ICD10:K83.1|Orphanet:99960|OMIM:243300|DOID:0070231	gard_rare|ordo_clinical_subtype	cholestasis, benign recurrent intrahepatic 1|mild ATP8B1 deficiency|cholestasis, benign recurrent intrahepatic, 1|Summerskill syndrome|Bric type 1|BRIC1|recurrent familial intrahepatic cholestasis 1|cholestasis, benign recurrent intrahepatic, type 1|ATP8B1 benign recurrent intrahepatic cholestasis|benign recurrent intrahepatic cholestasis 1|cholestasis, benign recurrent intrahepatic, 1; BRIC1|benign recurrent intrahepatic cholestasis caused by mutation in ATP8B1	http://purl.obolibrary.org/obo/MONDO_0009469	Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years.Most people with BRIC1have their first episode of cholestasisintheir teens or twenties. Symptoms oftenpresent with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by mutations in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern.BRIC1generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity.	DOID:0070231|ORPHA:99960|http://identifiers.org/omim/243300|UMLS:C1855731|MESH:C535930
MONDO:0009468	pseudotumor cerebri	biolink:Disease	mondo	UMLS:C0033845|OMIM:243200|SCTID:68267002|GARD:0004561|ICD10:G93.2|Orphanet:238624|COHD:312902|MedDRA:10037149|ICD9:348.2|DOID:11459|MESH:D011559|EFO:1001132|NCIT:C85035	gard_rare|ordo_disease	pseudotumor cerebri|benign intracran. hypt.|IIH|intracranial hypertension, idiopathic|benign intracranial hypertension|idiopathic intracranial hypertension	http://purl.obolibrary.org/obo/MONDO_0009468	Idiopathic intracranial hypertension is a neurological disorder characterized by isolated increased intracranial pressure manifesting with recurrent and persistent headaches, nausea, vomiting, progressive and transient obstruction of the visual field, papilledema. Visual loss can be irreversible.	DOID:11459|UMLS:C0033845|SNOMEDCT:68267002|ORPHA:238624|http://identifiers.org/omim/243200|MESH:D011559|NCIT:C85035
MONDO:0009467	natal teeth-intestinal pseudoobstruction-patent ductus syndrome	biolink:Disease	mondo	UMLS:C1855732|GARD:0003928|MESH:C538341|OMIM:243185|ICD10:Q87.8|Orphanet:1654	ordo_malformation_syndrome	intestinal pseudoobstruction with patent ductus arteriosus and NATAL teeth|Natal teeth, intestinal pseudoobstruction and patent ductus	http://purl.obolibrary.org/obo/MONDO_0009467		MESH:C538341|ORPHA:1654|http://identifiers.org/omim/243185|UMLS:C1855732
MONDO:0009466	neuronal intestinal pseudoobstruction	biolink:Disease	mondo	MESH:C537394|GARD:0003969|Orphanet:99811|UMLS:C1855733|ICD10:K59.8|OMIM:243180	ordo_etiological_subtype	visceral neuropathy, familial, autosomal recessive|nid a|visceral neuropathy familial|pseudoobstruction, chronic idiopathic intestinal, neuronal type|pseudoobstruction chronic idiopathic intestinal neuronal type|Argyrophil myenteric plexus deficiency of|Argyrophil myenteric plexus, deficiency of|neuronal intestinal dysplasia, type a|intestinal pseudoobstruction due to neuronal disease	http://purl.obolibrary.org/obo/MONDO_0009466	Neuronal intestinal pseudoobstruction is a form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction.	MESH:C537394|ORPHA:99811|http://identifiers.org/omim/243180|UMLS:C1855733
MONDO:0009465	multiple intestinal atresia	biolink:Disease	mondo	Orphanet:436252|DOID:14671|ICD10:Q82.8|MedDRA:10028210|ICD9:751.8|ICD10:Q43.8|SCTID:95472001|OMIM:243150|Orphanet:2300|GARD:0003013|MESH:C562441	gard_rare|ordo_disease|ordo_morphological_anomaly	multiple gastrointestinal atresias|gastrointestinal defects and immunodeficiency syndrome|combined immunodeficiency-enteropathy spectrum|GIDID|Cid-MIA/early-onset IBD|intestinal atresia multiple|gastrointestinal defects and immunodeficiency syndrome; GIDID|intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency|intestinal atresia, multiple|familial intestinal polyatresia syndrome	http://purl.obolibrary.org/obo/MONDO_0009465	Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.	ORPHA:2300|ORPHA:436252|http://identifiers.org/omim/243150|DOID:14671|MEDDRA:10028210|SNOMEDCT:95472001|MESH:C562441|UMLS:C0220744
MONDO:0009464	immunodeficiency with defective T-cell response to interleukin 1	biolink:Disease	mondo	OMIM:243110|UMLS:C1855735		immunodeficiency with defective T-cell response to Interleukin type 1|Interleukin 1, defective T-cell response to|immunodeficiency with defective T-cell response to interleukin 1	http://purl.obolibrary.org/obo/MONDO_0009464		http://identifiers.org/omim/243110|UMLS:C1855735
MONDO:0009463	internal carotid arteries, hypoplasia of	biolink:Disease	mondo	OMIM:243100		internal carotid arteries, hypoplasia of	http://purl.obolibrary.org/obo/MONDO_0009463		http://identifiers.org/omim/243100
MONDO:0010462	syndromic X-linked intellectual disability Chudley-Schwartz type	biolink:Disease	mondo	DOID:0060819|UMLS:C3275471|OMIM:300861		X-linked intellectual disability with seizures, hypogammaglobinemia, and gait disturbance|intellectual disability, X-linked, syndromic, Chudley-Schwartz type; MRXSCS|mental retardation, X-linked, syndromic, Chudley-Schwartz type|X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance|mental retardation, X-linked, syndromic, Chudley-Schwartz type; MRXSCS|MRXSCS|intellectual disability, X-linked, with seizures, hypogammaglobulinemia, and Gait disturbance|intellectual disability, X-linked, syndromic, Chudley-Schwartz type|mental retardation, X-linked, with seizures, hypogammaglobulinemia, and Gait disturbance	http://purl.obolibrary.org/obo/MONDO_0010462	A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has material basis in variation in the chromosomal region Xq21.33-q23.	DOID:0060819|UMLS:C3275471|http://identifiers.org/omim/300861
MONDO:0009462	inosine phosphorylase deficiency, immune defect due to	biolink:Disease	mondo	UMLS:C1855737|MESH:C565465|OMIM:243080		inosine phosphorylase deficiency, immune defect due to	http://purl.obolibrary.org/obo/MONDO_0009462		http://identifiers.org/omim/243080|MESH:C565465|UMLS:C1855737
MONDO:0009461	male infertility due to large-headed multiflagellar polyploid spermatozoa	biolink:Disease	mondo	ICD10:N46|GARD:0012385|OMIM:243060|UMLS:C0403812|MESH:C562903|SCTID:236806004|Orphanet:137893|DOID:0070183	ordo_clinical_subtype	spermatogenic failure 5|Male infertility due to macrozoospermia|macrocephalic sperm head syndrome|spermatogenic failure 5; SPGF5|infertility associated with multi-tailed spermatozoa and excessive DNA|infertility associated with Multitailed spermatozoa and excessive DNA|SPGF5|Male infertility with large-headed, multiflagellar, polyploid spermatozoa|macrozoospermia|spermatogenic failure type 5	http://purl.obolibrary.org/obo/MONDO_0009461	Male infertility due to large-headed multiflagellar polypoid spermatozoa is a male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy).	ORPHA:137893|http://identifiers.org/omim/243060|UMLS:C0403812|SNOMEDCT:236806004|DOID:0070183|MESH:C562903
MONDO:0010461	syndromic X-linked intellectual disability Nascimento type	biolink:Disease	mondo	UMLS:C3275464|OMIM:300860|ICD10:Q87.8|DOID:0060820|Orphanet:163956	ordo_disease	intellectual disability, X-linked, syndromic, Nascimento type|X-linked intellectual disability, Nascimento type|mental retardation, X-linked, syndromic, Nascimento type|mental retardation, X-linked, syndromic, Nascimento type; MRXSN|intellectual disability, X-linked, syndromic 30|MRXSN|intellectual disability, X-linked syndromic, Nascimento-type|mental retardation, X-linked syndromic, Nascimento-type|X-linked intellectual disability-nail dystrophy-seizures syndrome|intellectual disability, X-linked, syndromic, Nascimento type; MRXSN|mental retardation, X-linked, syndromic 30	http://purl.obolibrary.org/obo/MONDO_0010461	X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.	ORPHA:163956|DOID:0060820|UMLS:C3275464|http://identifiers.org/omim/300860
MONDO:0010464	X-linked cerebral-cerebellar-coloboma syndrome syndrome	biolink:Disease	mondo	OMIM:300864|UMLS:C3275487|ICD10:Q87.8|Orphanet:163961	ordo_disease	cerebral-cerebellar-coloboma syndrome, X-linked|X-linked cerebral-cerebellar-coloboma syndrome|X-linked intellectual disability, Kroes type	http://purl.obolibrary.org/obo/MONDO_0010464	X-linked cerebral-cerebellar-coloboma syndrome is a rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures.	ORPHA:163961|UMLS:C3275487|http://identifiers.org/omim/300864
MONDO:0009460	Indolylacroyl Glycinuria with mental retardation	biolink:Disease	mondo	UMLS:C1855738|MESH:C565466|OMIM:243050		Indolylacroyl Glycinuria with mental retardation|Indolylacroyl Glycinuria with intellectual disability	http://purl.obolibrary.org/obo/MONDO_0009460		http://identifiers.org/omim/243050|MESH:C565466|UMLS:C1855738
MONDO:0010463	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	biolink:Disease	mondo	Orphanet:163966|UMLS:C3275476|OMIM:300863|SCTID:719837003|ICD10:Q87.8	ordo_disease	X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome|chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	http://purl.obolibrary.org/obo/MONDO_0010463	X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.	ORPHA:163966|UMLS:C3275476|http://identifiers.org/omim/300863|SNOMEDCT:719837003
MONDO:0010466	multiple congenital anomalies-hypotonia-seizures syndrome 2	biolink:Disease	mondo	ICD10:Q87.8|UMLS:C3275508|GARD:0012777|Orphanet:300496|OMIM:300868|DOID:0080139	ordo_malformation_syndrome	epileptic encephalopathy, early infantile, 20|MCAHS2|developmental and epileptic encephalopathy 20|multiple congenital anomalies-hypotonia-seizures syndrome 2; MCAHS2|multiple congenital anomalies-hypotonia-seizures syndrome type 2|GPIBD4|DEE20|multiple congenital anomalies-hypotonia-seizures syndrome 2|multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGA|glycosylphosphatidylinositol biosynthesis defect 4|MCAHS type 2|PIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disability	http://purl.obolibrary.org/obo/MONDO_0010466	Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene.	ORPHA:300496|UMLS:C3275508|http://identifiers.org/omim/300868|DOID:0080139
HGNC:11427	STUB1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11427		
MONDO:0010465	Kabuki syndrome 2	biolink:Disease	mondo	OMIM:300867|UMLS:C3275495		KABUKI syndrome 2; KABUK2|KABUK2|Kabuki syndrome 2|Kabuki syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0010465		UMLS:C3275495|http://identifiers.org/omim/300867
MONDO:0010468	ANIB5	biolink:Disease	mondo	OMIM:300870|MESH:C563670|UMLS:C1835857		aneurysm, intracranial BERRY, 5; ANIB5|aneurysm, intracranial BERRY, 5|ANIB5	http://purl.obolibrary.org/obo/MONDO_0010468		MESH:C563670|UMLS:C1835857|http://identifiers.org/omim/300870
HGNC:11425	STS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11425		
MONDO:0010467	Xq27.3q28 duplication syndrome	biolink:Disease	mondo	OMIM:300869|Orphanet:261483|ICD10:Q99.8|UMLS:C3275521	ordo_malformation_syndrome	Xq27.3-q28 microduplication syndrome|dup(X)(q27.3q28)|chromosome Xq27.3-q28 DUPLICATION syndrome|trisomy Xq27.3-q28|trisomy Xq27.3q28	http://purl.obolibrary.org/obo/MONDO_0010467	Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.	UMLS:C3275521|ORPHA:261483|http://identifiers.org/omim/300869
IAO:0000410	universal	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/IAO_0000410		
MONDO:0010460	syndromic X-linked intellectual disability 17	biolink:Disease	mondo	UMLS:C3275460|OMIM:300858|DOID:0060803|Orphanet:289483	ordo_disease	intellectual disability-alacrima-achalasia syndrome|intellectual disability, X-linked, with alacrima and achalasia|mental retardation, X-linked, syndromic 17; MRXS17|X-linked mental retardation with alacrima and achalasia|mental retardation, X-linked, with alacrima and achalasia|MRXS17|intellectual disability, X-linked, syndromic 17|mental retardation, X-linked, syndromic 17|syndromic X-linked intellectual disability type 17|X-linked intellectual disability with alacrima and achalasia|intellectual disability, X-linked, syndromic 17; MRXS17	http://purl.obolibrary.org/obo/MONDO_0010460	Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals.	ORPHA:289483|DOID:0060803|UMLS:C3275460|http://identifiers.org/omim/300858
MONDO:0022430	persistent fetal circulation syndrome	biolink:Disease	mondo	NCIT:C85006|SCTID:233815004		PPHN|persistent fetal circulation|persistent pulmonary hypertension of the newborn	http://purl.obolibrary.org/obo/MONDO_0022430	A cardiopulmonary disorder characterized by systemic arterial hypoxemia secondary to pulmonary hypertension and extrapulmonary right to left shunting across the foramen ovale and ductus arteriosus.	NCIT:C85006|SNOMEDCT:233815004
MONDO:0022432	alves Castelo dos Santos syndrome	biolink:Disease	mondo	MESH:C536593		ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, and cataract	http://purl.obolibrary.org/obo/MONDO_0022432		MESH:C536593
MONDO:0022434	obsolete amelia cleft lip palate hydrocephalus iris coloboma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0022434		
MONDO:0022435	Mauriac syndrome	biolink:Disease	mondo	SCTID:80660001|GTR:AN0543890|NCIT:C130997|ICD9:258.1|GTR:AN0543843|UMLS:C0221005		Mauriac Syndrome|mauriac syndrome|dwarfism-hepatomegaly-obesity-juvenile diabetes syndrome|Mauriac syndrome|Mauriac's syndrome|mauriac's syndrome|mauriac syndrome|Dwarfism-hepatomegaly-obesity-juvenile diabetes syndrome	http://purl.obolibrary.org/obo/MONDO_0022435	A complication of poorly controlled type 1 diabetes mellitus in children characterized by linear growth impairment, glycogenic hepatopathy, and Cushingoid features.	UMLS:C0221005|SNOMEDCT:80660001|NCIT:C130997
MONDO:0010448	moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	biolink:Disease	mondo	UMLS:C3151857|OMIM:300845|Orphanet:280679	ordo_disease	syndromic Moyamoya disease|Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism|Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism; MYMY4|Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism|MYMY4|chromosome Xq28 deletion syndrome, 3.4-Kb	http://purl.obolibrary.org/obo/MONDO_0010448	Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.	http://identifiers.org/omim/300845|UMLS:C3151857|ORPHA:280679
MONDO:0010447	intellectual disability, X-linked 19	biolink:Disease	mondo	UMLS:C0796225|MESH:C563141|OMIM:300844		intellectual disability, X-linked type 19|intellectual disability, X-linked 19|mental retardation, X-linked 19; MRX19|non-syndromic X-linked intellectual disability caused by mutation in RPS6KA3|mental retardation, X-linked 19|intellectual disability, X-linked 19; MRX19|RPS6KA3 non-syndromic X-linked intellectual disability|MRX19|mental retardation, X-linked type 19	http://purl.obolibrary.org/obo/MONDO_0010447	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RPS6KA3 gene.	UMLS:C0796225|http://identifiers.org/omim/300844|MESH:C563141
MONDO:0009479	Johanson-Blizzard syndrome	biolink:Disease	mondo	MESH:C535880|OMIM:260450|DOID:14694|GARD:0000080|Orphanet:2315|UMLS:C0175692|MESH:C564907|SCTID:75979009|EFO:0001063|ICD9:759.89|ICD10:Q87.8|UMLS:C1850081|OMIM:243800	ordo_malformation_syndrome|gard_rare	pancreatic insufficiency, combined exocrine|Johanson-BLIZZARD syndrome; JBS|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness|Johanson-Blizzard syndrome|JBS|nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness	http://purl.obolibrary.org/obo/MONDO_0009479	Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.	UMLS:C1850081|ORPHA:2315|SNOMEDCT:75979009|UMLS:C0175692|http://identifiers.org/omim/260450|DOID:14694|http://identifiers.org/omim/243800|MESH:C535880|MESH:C564907
HGNC:11429	STX11	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11429		
MONDO:0009478	combined immunodeficiency due to DOCK8 deficiency	biolink:Disease	mondo	OMIM:243700|GARD:0002816|UMLS:C1968689|ICD10:D81.1|Orphanet:217390|NCIT:C126343	gard_rare|ordo_disease	Cid due to DOCK8 deficiency|hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive|combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency|DOCK8 deficiency|hyper Ig E syndrome, autosomal recessive|dedicator of cytokinesis 8 deficiency|hyper-IgE syndrome, autosomal recessive|HIES autosomal recessive|autosomal recessive hyper IgE syndrome|AR hyperimmunoglobulin E syndrome|HIES, autosomal recessive|DOCK8 immunodeficiency syndrome|AR-HIES|hyper-IgE recurrent infection syndrome, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009478	Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE).	http://identifiers.org/omim/243700|NCIT:C126343|ORPHA:217390|UMLS:C1968689
MONDO:0010449	autism, susceptibility to, X-linked 5	biolink:Disease	mondo	OMIM:300847	predisposition	susceptibility to X-linked autism 5|AUTSX5|autism, susceptibility to, X-linked 5; AUTSX5|autism, susceptibility to, X-linked 5|autism, susceptibility to, X-linked type 5	http://purl.obolibrary.org/obo/MONDO_0010449		http://identifiers.org/omim/300847
MONDO:0009477	Stromme syndrome	biolink:Disease	mondo	DOID:0110595|OMIM:243605|OMIM:616369|EFO:0009160|Orphanet:506307|Orphanet:444069|MESH:C565460|UMLS:CN237682|ICD10:Q87.8	ordo_malformation_syndrome	primary ciliary dyskinesia 31|apple peel syndrome with microcephaly and ocular anomalies|apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome|ciliary dyskinesia, primary, 31|Stromme syndrome; STROMS|jejunal atresia-microcephaly-ocular anomalies syndrome|CILD31|STROMS|lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome|Stromme syndrome|jejunal atresia with microcephaly and ocular anomalies|ciliary dyskinesia, primary, 31, formerly|ciliary dyskinesia, primary, type 31|ciliary dyskinesia, primary, 31; CILD31	http://purl.obolibrary.org/obo/MONDO_0009477	Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).	MESH:C565460|http://identifiers.org/omim/243605|UMLS:CN237682|DOID:0110595|http://identifiers.org/omim/616369|ORPHA:444069|ORPHA:506307
MONDO:0009476	atresia of small intestine	biolink:Disease	mondo	ICD10:Q41.9|ICD10:Q41.8|NCIT:C98828|ICD10:Q41.2|UMLS:C0266172|MedDRA:10010626|ICD10:Q41.1|ICD10:Q41.0|GARD:0006799|OMIM:243600|Orphanet:1201|GARD:0000140|MESH:C538260	gard_rare|ordo_morphological_anomaly	familial apple peel jejunal atresia|APSB|congenital small intestine atresia|jejunal atresia|small intestinal atresia|Jejunoileal atresia|atresia of the small intestine|congenital atresia of the small intestine|apple peel syndrome|small intestine atresia|intestinal atresia type IIIb|apple-peel intestinal atresia|apple peel small bowel syndrome	http://purl.obolibrary.org/obo/MONDO_0009476	Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis. The most important cause of mortality is short bowel syndrome, encountered in 65% of cases.	MESH:C538260|UMLS:C0266175|UMLS:C0266172|ORPHA:1201|MEDDRA:10010626|http://identifiers.org/omim/243600|NCIT:C98828
MONDO:0009475	isovaleric acidemia	biolink:Disease	mondo	OMIM:243500|UMLS:C0268575|Orphanet:33|GARD:0000465|DOID:14753|ICD10:E71.1|MESH:C538167|SCTID:87827003|ICD10:E71.110|NCIT:C98964	ordo_disease|gard_rare	isovaleric acidemia; IVA|isovaleryl-CoA dehydrogenase deficiency|IVD deficiency|isovaleric aciduria|Isovalericacidemia|IVA|isovaleric acid CoA dehydrogenase deficiency|isovaleric acidemia|isovaleric acid Coa dehydrogenase deficiency|isovaleryl CoA carboxylase deficiency	http://purl.obolibrary.org/obo/MONDO_0009475	Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported.	UMLS:C0268575|MESH:C538167|DOID:14753|http://identifiers.org/omim/243500|ORPHA:33|NCIT:C98964|SNOMEDCT:87827003
MONDO:0009474	isovaleric acid, inability to smell	biolink:Disease	mondo	OMIM:243450		isovaleric acid, inability to smell	http://purl.obolibrary.org/obo/MONDO_0009474		http://identifiers.org/omim/243450
MONDO:0010451	intellectual disability, X-linked 41	biolink:Disease	mondo	OMIM:300849|UMLS:C3887939		non-syndromic X-linked intellectual disability caused by mutation in GDI1|intellectual disability, X-linked 48|mental retardation, X-linked 48|intellectual disability, X-linked 41; MRX41|mental retardation, X-linked 41; MRX41|mental retardation, X-linked 41|intellectual disability, X-linked type 41|intellectual disability, X-linked 41|GDI1 non-syndromic X-linked intellectual disability|mental retardation, X-linked type 41|MRX41	http://purl.obolibrary.org/obo/MONDO_0010451	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the GDI1 gene.	UMLS:C3887939|http://identifiers.org/omim/300849
MONDO:0009473	isotretinoin-like syndrome	biolink:Disease	mondo	SCTID:722006004|GARD:0009675|Orphanet:2306|MESH:C535542|ICD10:Q87.8|OMIM:243440	ordo_malformation_syndrome	microtia-aortic arch syndrome|Kawashima syndrome|microtia-aortic Arch syndrome|Isotretinoin embryopathy like syndrome|microtia aortic arch syndrome|syndrome of microtia and aortic arch anomalies|ISOTRETINOIN embryopathy-like syndrome	http://purl.obolibrary.org/obo/MONDO_0009473	Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy.	SNOMEDCT:722006004|ORPHA:2306|http://identifiers.org/omim/243440|MESH:C535542
MONDO:0009472	acetylation, slow	biolink:Disease	mondo	OMIM:243400		acetylation, Fast|slow acetylator phenotype|INH inactivation, slow|Isoniazid inactivation, slow|acetylation, slow|INH inactivation, Fast|Fast acetylator phenotype	http://purl.obolibrary.org/obo/MONDO_0009472		http://identifiers.org/omim/243400
GO:1905038	regulation of membrane lipid metabolic process	biolink:OntologyClass	mondo			regulation of membrane lipid metabolism	http://purl.obolibrary.org/obo/GO_1905038	Any process that modulates the frequency, rate or extent of membrane lipid metabolic process.	
MONDO:0010450	MRX89	biolink:Disease	mondo	MESH:C564036|OMIM:300848		MRX89|intellectual disability, X-linked 89|mental retardation, X-linked 89|intellectual disability, X-linked 89; MRX89|mental retardation, X-linked 89; MRX89	http://purl.obolibrary.org/obo/MONDO_0010450		MESH:C564036|http://identifiers.org/omim/300848
MONDO:0009471	intrinsic factor and r binder, combined congenital deficiency of	biolink:Disease	mondo	UMLS:C1855721|OMIM:243320|MESH:C565461		intrinsic factor and r binder, combined congenital deficiency of	http://purl.obolibrary.org/obo/MONDO_0009471		MESH:C565461|http://identifiers.org/omim/243320|UMLS:C1855721
MONDO:0010453	MRX92	biolink:Disease	mondo	UMLS:C1845144|MESH:C564483|OMIM:300851		intellectual disability, X-linked 92; MRX92|mental retardation, X-linked 92; MRX92|MRX92|mental retardation, X-linked 92|intellectual disability, X-linked 92	http://purl.obolibrary.org/obo/MONDO_0010453		MESH:C564483|UMLS:C1845144|http://identifiers.org/omim/300851
GO:1905039	carboxylic acid transmembrane transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1905039	The process in which carboxylic acid is transported across a membrane.	
MONDO:0009470	Baraitser-Winter syndrome 1	biolink:Disease	mondo	UMLS:C1853623|OMIM:243310|UMLS:C1837819	clingen	intellectual disability with epilepsy and characteristic facies|mental retardation with epilepsy and characteristic facies|pachygyria, mental retardation, epilepsy, and characteristic facies|Baraitser-Winter syndrome type 1|BRWS1|iris coloboma with ptosis, hypertelorism, and intellectual disability|iris coloboma with ptosis, hypertelorism, and mental retardation|Fryns-Aftimos syndrome|cerebrofrontofacial syndrome|Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTB|Baraitser-WINTER syndrome 1; BRWS1|cerebrooculofacial lymphatic syndrome|Baraitser-Winter syndrome 1|chromosome 7P22 deletion syndrome|ACTB Baraitser-Winter cerebrofrontofacial syndrome|pachygyria, intellectual disability, epilepsy, and characteristic facies	http://purl.obolibrary.org/obo/MONDO_0009470	Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTB gene.	http://identifiers.org/omim/243310|UMLS:C1853623|UMLS:C1837819
MONDO:0010452	intellectual disability, X-linked 90	biolink:Disease	mondo	OMIM:300850|UMLS:C3275443		intellectual disability, X-linked 90; MRX90|non-syndromic X-linked intellectual disability caused by mutation in DLG3|mental retardation, X-linked 90; MRX90|intellectual disability, X-linked type 90|intellectual disability, X-linked 90|mental retardation, X-linked 90|DLG3 non-syndromic X-linked intellectual disability|MRX90|mental retardation, X-linked type 90	http://purl.obolibrary.org/obo/MONDO_0010452	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the DLG3 gene.	UMLS:C3275443|http://identifiers.org/omim/300850
HGNC:11431	STX16	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11431		
MONDO:0010455	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	biolink:Disease	mondo	ICD10:D81.8|GARD:0010907|Orphanet:317476|UMLS:C3275445|OMIM:300853|SCTID:711481001|DOID:0080319	ordo_disease	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia|XMEN|immunodeficiency, X-linked, with magnesium defect, Epstein-Barr VIRUS infection, and neoplasia; XMEN|X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia|combined immunodeficiency due to MAGT1 deficiency|Cid due to MAGT1 deficiency|immunodeficiency, X-linked, with magnesium defect, Epstein-Barr VIRUS infection, and neoplasia	http://purl.obolibrary.org/obo/MONDO_0010455	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyses show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias.	SNOMEDCT:711481001|DOID:0080319|ORPHA:317476|UMLS:C3275445|http://identifiers.org/omim/300853
MONDO:0010454	MRX88	biolink:Disease	mondo	UMLS:C3275444|OMIM:300852		mental retardation, X-linked 88|intellectual disability, X-linked 88|intellectual disability, X-linked 88; MRX88|mental retardation, X-linked 88; MRX88|MRX88	http://purl.obolibrary.org/obo/MONDO_0010454		UMLS:C3275444|http://identifiers.org/omim/300852
MONDO:0010457	Ogden syndrome	biolink:Disease	mondo	Orphanet:276432|MESH:C536107|GARD:0000188|DOID:0050781|UMLS:C3275447|OMIM:300855|HGNC:7645	ordo_malformation_syndrome|gard_rare	NAT1 deficiency|N acetyltransferase deficiency|Acetyl-CoA:arylamine n-acetyltransferase|arylamine n-acetyltransferase 1|Ogden syndrome; OGDNS|N acetyltransferase 1 deficiency|X-linked malformation and infantile lethality syndrome|Ogden syndrome|OGDNS|N-terminal acetyltransferase deficiency|N-alpha-acetyltransferase|premature aging appearance-developmental delay-cardiac arrhythmia syndrome	http://purl.obolibrary.org/obo/MONDO_0010457	Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.	http://identifiers.org/omim/300855|MESH:C536107|DOID:0050781|ORPHA:276432|UMLS:C3275447
MONDO:0010456	renal cell carcinoma, Xp11-associated	biolink:Disease	mondo	UMLS:C3275446|OMIM:300854		renal cell carcinoma, Xp11-associated|renal cell carcinoma, Xp11-associated; RCCX1|RCCX1	http://purl.obolibrary.org/obo/MONDO_0010456		UMLS:C3275446|http://identifiers.org/omim/300854
MONDO:0022428	aluminosis	biolink:Disease	mondo	SCTID:90623003|UMLS:C0311227|GARD:0008357	gard_rare	aluminium lung|pulmonary aluminosis|aluminosis of lung	http://purl.obolibrary.org/obo/MONDO_0022428	Aluminosis is characterized as diffuse interstitial fibrosis which is mainly located in the upper and middle lobes of the lung. In advanced stages it is characterized by subpleural bullous emphysema with an increased risk of spontaneous pneumothorax.	SNOMEDCT:90623003|UMLS:C0311227
IAO:0000423	to be replaced with external ontology term	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/IAO_0000423	Terms with this status should eventually replaced with a term from another ontology.	
IAO:0000420	defined class	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/IAO_0000420	A defined class is a class that is defined by a set of logically necessary and sufficient conditions but is not a universal	
IAO:0000421	named class expression	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/IAO_0000421	A named class expression is a logical expression that is given a name. The name can be used in place of the expression.	
OBO:mondo#disease_triggers	disease triggers	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/mondo#disease_triggers		
HP:0001649	Tachycardia	biolink:PhenotypicFeature	mondo	UMLS:C4020868|SNOMEDCT_US:86651002|UMLS:C0039231|SNOMEDCT_US:3424008|MSH:D013610		Increased heart rate|Rapid heart beat|Fast heart rate|Elevated heart rate|Heart racing|Racing heart	http://purl.obolibrary.org/obo/HP_0001649	A rapid heartrate that exceeds the range of the normal resting heartrate for age.	
HP:0001644	Dilated cardiomyopathy	biolink:PhenotypicFeature	mondo	MSH:D002311|SNOMEDCT_US:195021004|UMLS:C0007193|Fyler:1843|SNOMEDCT_US:399020009		Stretched and thinned heart muscle|Congestive cardiomyopathy|Cardiomyopathy, dilated|DCM	http://purl.obolibrary.org/obo/HP_0001644	Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.	
GO:0090482	vitamin transmembrane transporter activity	biolink:OntologyClass	mondo			vitamin or cofactor transporter activity|vitamin transporter activity	http://purl.obolibrary.org/obo/GO_0090482	Enables the transfer of a vitamin from one side of a membrane to the other.	
MONDO:0022495	obsolete arthritis short stature deafness	biolink:Disease	mondo	GARD:0000775			http://purl.obolibrary.org/obo/MONDO_0022495		
MONDO:0022496	arthrogryposis IUGR thoracic dystrophy	biolink:Disease	mondo	GARD:0000782	gard_rare	Van Bervliet syndrome	http://purl.obolibrary.org/obo/MONDO_0022496	A syndrome characterized by severe intrauterine growth retardation, psychomotor delay and recurrent infections, craniofacial dysostosis, a progeroid appearance, arthrogryposis and camptodactylia.	
HGNC:11408	STK4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11408		
HP:0001651	Dextrocardia	biolink:PhenotypicFeature	mondo	UMLS:C0011813|EPCC:02.01.02|SNOMEDCT_US:27637000|ICD-10:Q24.0|Fyler:110|MSH:D003914|Fyler:0110		Thoracic situs inversus|Heart tip and four chambers point towards right side of body	http://purl.obolibrary.org/obo/HP_0001651	The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.	
HGNC:11411	CDKL5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11411		
HP:0001650	Aortic valve stenosis	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:60573004|UMLS:C0003507|MSH:D001024|Fyler:1411		Narrowing of aortic valve|Aortic stenosis|Valvular aortic stenosis	http://purl.obolibrary.org/obo/HP_0001650	The presence of a stenosis (narrowing) of the aortic valve.	
HP:0001654	Abnormal heart valve morphology	biolink:PhenotypicFeature	mondo	MSH:D006349|UMLS:C0241654|UMLS:C0018824|SNOMEDCT_US:368009		Valvular abnormality|Abnormality of the heart valves|Valvular heart disease	http://purl.obolibrary.org/obo/HP_0001654	Any structural abnormality of a cardiac valve.	
HP:0001626	Abnormality of the cardiovascular system	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:49601007|MSH:D018376|MSH:D002318|UMLS:C0007222|UMLS:C0243050		Cardiovascular disease|Cardiovascular abnormality|Abnormality of the cardiovascular system	http://purl.obolibrary.org/obo/HP_0001626	Any abnormality of the cardiovascular system.	
HP:0001627	Abnormal heart morphology	biolink:PhenotypicFeature	mondo	UMLS:C0152021|UMLS:C0018798|MSH:D006330|SNOMEDCT_US:13213009		Cardiac anomalies|Congenital heart defects|Congenital heart defect|Heart defect|Cardiac abnormality|Abnormality of cardiac morphology|Abnormality of the heart|Cardiac anomaly|Abnormally shaped heart	http://purl.obolibrary.org/obo/HP_0001627	Any structural anomaly of the heart.	
MONDO:0022481	APO A-i deficiency	biolink:Disease	mondo	GARD:0000758	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022481		
MONDO:0022482	obsolete apolipoprotein C 2i deficiency	biolink:Disease	mondo	GARD:0000759	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022482		
GO:0016485	protein processing	biolink:OntologyClass	mondo			protein maturation by peptide bond hydrolysis|protein maturation by peptide bond cleavage|protein maturation by proteolysis|peptidolysis during protein maturation	http://purl.obolibrary.org/obo/GO_0016485	Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein.	
GO:0016482	cytosolic transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016482	The directed movement of substances or organelles within the cytosol.	
GO:1905082	regulation of mitochondrial translational elongation	biolink:OntologyClass	mondo			regulation of mitochondrial translation elongation	http://purl.obolibrary.org/obo/GO_1905082	Any process that modulates the frequency, rate or extent of mitochondrial translational elongation.	
GO:1905083	negative regulation of mitochondrial translational elongation	biolink:OntologyClass	mondo			inhibition of mitochondrial translation elongation|down-regulation of mitochondrial translation elongation|negative regulation of mitochondrial translation elongation|downregulation of mitochondrial translational elongation|down regulation of mitochondrial translational elongation|downregulation of mitochondrial translation elongation|inhibition of mitochondrial translational elongation|down-regulation of mitochondrial translational elongation|down regulation of mitochondrial translation elongation	http://purl.obolibrary.org/obo/GO_1905083	Any process that stops, prevents or reduces the frequency, rate or extent of mitochondrial translational elongation.	
GO:1905084	positive regulation of mitochondrial translational elongation	biolink:OntologyClass	mondo			upregulation of mitochondrial translation elongation|up regulation of mitochondrial translational elongation|activation of mitochondrial translational elongation|positive regulation of mitochondrial translation elongation|up-regulation of mitochondrial translational elongation|up regulation of mitochondrial translation elongation|activation of mitochondrial translation elongation|up-regulation of mitochondrial translation elongation|upregulation of mitochondrial translational elongation	http://purl.obolibrary.org/obo/GO_1905084	Any process that activates or increases the frequency, rate or extent of mitochondrial translational elongation.	
HP:0001637	Abnormal myocardium morphology	biolink:PhenotypicFeature	mondo	UMLS:C4025758		Abnormality of the myocardium	http://purl.obolibrary.org/obo/HP_0001637	A structural anomaly of the muscle layer of the heart wall.	
HP:0001638	Cardiomyopathy	biolink:PhenotypicFeature	mondo	MSH:D009202|Fyler:1840|UMLS:C0878544|SNOMEDCT_US:57809008|SNOMEDCT_US:85898001		Disease of the heart muscle	http://purl.obolibrary.org/obo/HP_0001638	A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.	
HP:0001635	Congestive heart failure	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:42343007|MSH:D006333|SNOMEDCT_US:84114007|UMLS:C0018802|UMLS:C0018801		Heart failure|Chronic heart failure|Cardiac insufficiency|Cardiac failures|Cardiac failure|CHF	http://purl.obolibrary.org/obo/HP_0001635	The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.	
MONDO:0022470	aortic dissection lentiginosis	biolink:Disease	mondo	GARD:0000742	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022470	A syndrome characterized by arterial dissections, multiple lentigines, and cystic medial necrosis.	
MONDO:0022471	childhood aortic valve stenosis	biolink:Disease	mondo	GARD:0000744	gard_rare	aortic valves stenosis of the child	http://purl.obolibrary.org/obo/MONDO_0022471		
MONDO:0010495	trichothiodystrophy 5, nonphotosensitive	biolink:Disease	mondo	OMIM:300953|UMLS:C4225420		RNF113A nonphotosensitive trichothiodystrophy|trichothiodystrophy 5, nonphotosensitive; TTD5|nonphotosensitive trichothiodystrophy caused by mutation in RNF113A|trichothiodystrophy 5, nonphotosensitive|TTD5	http://purl.obolibrary.org/obo/MONDO_0010495	Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the RNF113A gene.	http://identifiers.org/omim/300953|UMLS:C4225420
MONDO:0010494	linear skin defects with multiple congenital anomalies 3	biolink:Disease	mondo	OMIM:300952|UMLS:C4225421		linear skin defects with multiple congenital anomalies type 3|linear skin defects with multiple congenital anomalies 3|linear skin defects with cardiomyopathy and Other congenital anomalies|LSDMCA3|linear skin defects with multiple congenital anomalies 3; LSDMCA3|microphthalmia with linear skin defects syndrome caused by mutation in NDUFB11|NDUFB11 microphthalmia with linear skin defects syndrome	http://purl.obolibrary.org/obo/MONDO_0010494	Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the NDUFB11 gene.	http://identifiers.org/omim/300952|UMLS:C4225421
MONDO:0010497	intellectual disability, X-linked 102	biolink:Disease	mondo	OMIM:300958|GARD:0012715|NCIT:C129931|UMLS:C4085582		DDX3X non-syndromic X-linked intellectual disability|DDX3X-related intellectual disability|mental retardation, X-linked 102|intellectual disability, X-linked 102|intellectual disability, X-linked type 102|MRX102|intellectual disability, X-linked 102; MRX102|non-syndromic X-linked intellectual disability caused by mutation in DDX3X|mental retardation, X-linked type 102|mental retardation, X-linked 102; MRX102	http://purl.obolibrary.org/obo/MONDO_0010497	An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features.	http://identifiers.org/omim/300958|NCIT:C129931|UMLS:C4085582
MONDO:0010496	X-linked intellectual disability-short stature-overweight syndrome	biolink:Disease	mondo	Orphanet:457240|UMLS:C0796218|OMIM:300957	ordo_malformation_syndrome	intellectual disability, X-linked type 12|intellectual disability, X-linked 12|intellectual disability, X-linked 12; MRX12|mental retardation, X-linked 12|MRX12|mental retardation, X-linked 12; MRX12|mental retardation, X-linked type 12|intellectual disability, X-linked 35|mental retardation, X-linked 35	http://purl.obolibrary.org/obo/MONDO_0010496	X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consitent pattern has been noted.	ORPHA:457240|UMLS:C0796218|http://identifiers.org/omim/300957
MONDO:0010499	Ritscher-Schinzel syndrome 2	biolink:Disease	mondo	DOID:0060572|UMLS:C4225419|OMIM:300963		Ritscher-Schinzel syndrome type 2|RTSC2|CCDC22 Ritscher-Schinzel syndrome|Ritscher-Schinzel syndrome 2; RTSC2|Ritscher-Schinzel syndrome 2|Ritscher-Schinzel syndrome caused by mutation in CCDC22	http://purl.obolibrary.org/obo/MONDO_0010499	Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the CCDC22 gene.	DOID:0060572|http://identifiers.org/omim/300963|UMLS:C4225419
MONDO:0010498	MEND syndrome	biolink:Disease	mondo	OMIM:300960|UMLS:C4085243|Orphanet:401973|ICD10:Q87.8	ordo_malformation_syndrome	MEND syndrome; MEND|Male EBP disorder with neurological defects|MEND|MEND syndrome|Male EBP disorder with neurologic defects	http://purl.obolibrary.org/obo/MONDO_0010498		http://identifiers.org/omim/300960|ORPHA:401973|UMLS:C4085243
MONDO:0010491	X-linked acrogigantism due to Xq26 microduplication	biolink:Disease	mondo	ICD10:E22.0|UMLS:C3891556|Orphanet:448372|UMLS:CN237731|SCTID:768472004|OMIM:300942	ordo_etiological_subtype	familial infantile gigantism due to dup(X)q(26)|X-linked acrogigantism|familial infantile gigantism due to Xq26 microduplication|X-LAG (X-linked acrogigantism) due to dup(X)q(26)|chromosome Xq26 microduplication syndrome|chromosome Xq26.3 DUPLICATION syndrome	http://purl.obolibrary.org/obo/MONDO_0010491		http://identifiers.org/omim/300942|UMLS:C3891556|ORPHA:448372|UMLS:CN237731|SNOMEDCT:768472004
GO:0016491	oxidoreductase activity	biolink:OntologyClass	mondo			oxidoreductase activity, acting on other substrates|redox activity	http://purl.obolibrary.org/obo/GO_0016491	Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced.	
MONDO:0010490	SSR4-CDG	biolink:Disease	mondo	DOID:0070257|ICD10:E77.8|Orphanet:370927|GARD:0012405|UMLS:C4012395|OMIM:300934|SCTID:733115009	ordo_disease	CDGIy|congenital disorder of glycosylation type 1y|CDG-Iy|carbohydrate deficient glycoprotein syndrome type Iy|CDG1Y|congenital disorder of glycosylation, type Iy|CDG 1Y|congenital disorder of glycosylation, type Iy; CDG1Y|CDG syndrome type Iy|congenital disorder of glycosylation type Iy|CDG Iy	http://purl.obolibrary.org/obo/MONDO_0010490	(Xq28).	DOID:0070257|ORPHA:370927|http://identifiers.org/omim/300934|SNOMEDCT:733115009|UMLS:C4012395
MONDO:0010493	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis	biolink:Disease	mondo	OMIM:300946|UMLS:C4225422		Diamond-Blackfan anemia 14 with mandibulofacial dysostosis|DBA14|Diamond-Blackfan anemia caused by mutation in TSR2|Diamond-Blackfan anemia 14 with mandibulofacial dysostosis; DBA14|TSR2 Diamond-Blackfan anemia	http://purl.obolibrary.org/obo/MONDO_0010493	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the TSR2 gene.	http://identifiers.org/omim/300946|UMLS:C4225422
MONDO:0010492	pituitary adenoma, growth hormone-secreting, 2	biolink:Disease	mondo	OMIM:300943|UMLS:C4012409		pituitary adenoma 2, growth hormone-secreting; PITA2|pituitary adenoma, Growth hormone-secreting, type 2|acromegaly due to pituitary adenoma 2|pituitary gland adenoma caused by mutation in GPR101|GPR101 pituitary gland adenoma|pituitary adenoma 2, Growth hormone-secreting|acromegaly, X-linked|PAGH2|pituitary adenoma, growth hormone-secreting, 2|PITA2|pituitary adenoma, growth hormone-secreting, 2; PAGH2	http://purl.obolibrary.org/obo/MONDO_0010492	Any pituitary gland adenoma in which the cause of the disease is a mutation in the GPR101 gene.	http://identifiers.org/omim/300943|UMLS:C4012409
MONDO:0009409	hypervitaminosis a, susceptibility to	biolink:Disease	mondo	OMIM:240150	predisposition	hypervitaminosis a, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0009409		http://identifiers.org/omim/240150
MONDO:0009408	hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase	biolink:Disease	mondo	OMIM:240000|UMLS:C1855884|MESH:C565489		hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase	http://purl.obolibrary.org/obo/MONDO_0009408		MESH:C565489|UMLS:C1855884|http://identifiers.org/omim/240000
MONDO:0009407	hypertrophic neuropathy and cataract	biolink:Disease	mondo	OMIM:239900|UMLS:C1855885|MESH:C565490		hypertrophic neuropathy and cataract	http://purl.obolibrary.org/obo/MONDO_0009407		MESH:C565490|http://identifiers.org/omim/239900|UMLS:C1855885
MONDO:0009406	hypertrichotic osteochondrodysplasia Cantu type	biolink:Disease	mondo	DOID:0060569|SCTID:239087008|ICD10:Q87.3|Orphanet:1517|MESH:C535572|OMIM:239850|UMLS:C0795905|GARD:0008585	ordo_malformation_syndrome|gard_rare	hypertrichotic osteochondrodysplasia|Cantu syndrome|hypertrichotic osteochondrodysplasia, Cantu type|Craniofaciocardioskeletal syndrome	http://purl.obolibrary.org/obo/MONDO_0009406	Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.	SNOMEDCT:239087008|ORPHA:1517|UMLS:C0795905|MESH:C535572|http://identifiers.org/omim/239850|DOID:0060569
UBERON:0018261	muscular coat of digestive tract	biolink:AnatomicalEntity	mondo			muscular layer of digestive tract|muscularis externa of digestive tract|tunica muscularis of digestive tract|tunica externa of digestive tract	http://purl.obolibrary.org/obo/UBERON_0018261	A muscular coat that is part of a digestive tract.	
MONDO:0009405	cervical hypertrichosis-peripheral neuropathy syndrome	biolink:Disease	mondo	GARD:0001226|Orphanet:2218|UMLS:C1855902|MESH:C565492|UMLS:C2931676|OMIM:239840	ordo_disease|gard_rare	hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy|cervical hypertrichosis peripheral neuropathy	http://purl.obolibrary.org/obo/MONDO_0009405	Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993.	MESH:C565492|http://identifiers.org/omim/239840|UMLS:C1855902|UMLS:C2931676|ORPHA:2218
MONDO:0009404	hypertelorism, microtia, facial clefting syndrome	biolink:Disease	mondo	SCTID:721836009|DOID:14670|GARD:0000897|OMIM:239800|UMLS:C0220742|Orphanet:2213|ICD10:Q87.0|MESH:C537632	ordo_malformation_syndrome	hypertelorism microtia facial clefting syndrome|Bixler syndrome|hypertelorism, microtia, facial clefting syndrome|Bixler-Christian-Gorlin syndrome|hypertelorism-microtia-clefting syndrome|hypertelorism-microtia-facial clefting syndrome|HMC syndrome|Bixler Christian Gorlin syndrome	http://purl.obolibrary.org/obo/MONDO_0009404	Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.	MESH:C537632|DOID:14670|http://identifiers.org/omim/239800|UMLS:C0220742|SNOMEDCT:721836009|ORPHA:2213
MONDO:0009403	hypertelorism and tetralogy of fallot	biolink:Disease	mondo	OMIM:239711|UMLS:C1855903|MESH:C538386|GARD:0002848	gard_rare	hypertelorism and tetralogy of fallot	http://purl.obolibrary.org/obo/MONDO_0009403		http://identifiers.org/omim/239711|UMLS:C1855903|MESH:C538386
MONDO:0009402	hypertelorism-hypospadias-polysyndactyly syndrome	biolink:Disease	mondo	ICD10:Q87.8|GARD:0000287|MESH:C538332|Orphanet:2211|OMIM:239710|SCTID:721835008	ordo_malformation_syndrome	acrofrontofacionasal dysostosis with genitourinary anomalies|Naguib syndrome|acrofrontofacionasal dysostosis, severe|acrofrontofacionasal dysostosis type 2|acrofrontofacionasal syndrome type 2|Affn dysostosis 2|hypertelorism hypospadias polysyndactyly syndrome|hypertelorism, hypospadias, and polysyndactyly syndrome|acrofrontofacionasal dysostosis 2|Naguib-Richieri-Costa syndrome	http://purl.obolibrary.org/obo/MONDO_0009402	Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.	http://identifiers.org/omim/239710|UMLS:C1855904|MESH:C538332|SNOMEDCT:721835008|ORPHA:2211
MONDO:0009401	hyperprolinemia type 2	biolink:Disease	mondo	DOID:0080543|ICD10:E72.5|OMIM:239510|UMLS:C2931835|GARD:0006710|MESH:C538385|MedDRA:10058514|SCTID:717181004|MedDRA:10058512|Orphanet:79101	ordo_disease|gard_rare	ALDH4A1 hyperprolinemia|HPII|1-pyrroline-5-carboxylate dehydrogenase deficiency|hyperprolinemia caused by mutation in ALDH4A1|HYRPRO2|hyperprolinemia, type 2|hyperprolinemia, type II; HYRPRO2|type 2 hyperprolinemia|1 alpha pyrroline-5-carboxylate dehydrogenase deficiency|hyperprolinemia, type II|delta1-pyrroline-5-carboxylate dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0009401	Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.	DOID:0080543|http://identifiers.org/omim/239510|SNOMEDCT:717181004|ORPHA:79101|MEDDRA:10058514|MEDDRA:10058512|UMLS:C2931835|UMLS:C0268530|MESH:C538385
MONDO:0009400	hyperprolinemia type 1	biolink:Disease	mondo	DOID:0080542|ICD10:E72.5|Orphanet:419|SCTID:61071003|MedDRA:10058513|ICD9:270.8|OMIM:239500	ordo_disease	hyperprolinemia, type I; HYRPRO1|PRODH hyperprolinemia|HPI|HYRPRO1|hyperprolinemia caused by mutation in PRODH|hyperprolinemia, type I|hyperprolinemia, type 1|proline oxidase deficiency	http://purl.obolibrary.org/obo/MONDO_0009400	Hyperprolinaemia type I is an inborn error of proline metabolism characterised by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2).	DOID:0080542|ORPHA:419|http://identifiers.org/omim/239500|MEDDRA:10058513|SNOMEDCT:61071003
UBERON:0006289	rib pre-cartilage condensation	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006289	A rib endochondral element that is composed primarily of a pre-cartilage condensation.	
HGNC:4573	GRIA3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4573		
UBERON:0006288	rib cartilage element	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006288	A rib endochondral element that is composed primarily of cartilage tissue.	
UBERON:0006287	radius-ulna pre-cartilage condensation	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006287	A radius-ulna endochondral element that is composed primarily of a pre-cartilage condensation.	
UBERON:0006286	radius cartilage element	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006286	A cartilaginous condensation that has the potential to develop into a radius bone.	
HGNC:4570	GRHPR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4570		
MONDO:0010400	X-linked scapuloperoneal muscular dystrophy	biolink:Disease	mondo	Orphanet:431272|OMIM:300695|GARD:0007608|UMLS:C2678061|ICD10:G71.0	ordo_disease	X-linked SPMD|scapuloperoneal myopathy, X-linked dominant|X-linked scapuloperoneal syndrome|SPM|scapuloperoneal myopathy, X-linked dominant; SPM|scapuloperoneal myopathy, FHL1-related	http://purl.obolibrary.org/obo/MONDO_0010400	X-linked scapuloperoneal muscular dystrophy (X-linked SPMD) is a skeletal muscle disease characterized by late onset, co-occurrence of scapular and peroneal muscle weakness, and scapular winging.	ORPHA:431272|UMLS:C2678061|http://identifiers.org/omim/300695
UBERON:0006285	pubic pre-cartilage condensation	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006285	A pubic endochondral element that is composed primarily of a pre-cartilage condensation.	
UBERON:0006284	early prosencephalic vesicle	biolink:AnatomicalEntity	mondo			forebrain vesicle|prosencephalic ventricle|preevaginated forebrain vesicle|prosencephalic vesicle|forebrain ventricle	http://purl.obolibrary.org/obo/UBERON_0006284	future brain vesicle that gives rise to telencephalic ventricle/lateral ventricles and 3rd ventricle	
MONDO:0010402	syndromic X-linked intellectual disability 94	biolink:Disease	mondo	UMLS:C2678051|ICD10:F72|DOID:0060823|OMIM:300699|MESH:C567479		mental retardation, X-linked, syndromic, Wu type; MRXSW|intellectual disability, X-linked, syndromic, Wu type; MRXSW|intellectual disability, X-linked 94|syndromic X-linked intellectual disability type 94|mental retardation, X-linked 94|intellectual disability, X-linked, syndromic, Wu type|MRXSW|syndromic X-linked mental retardation 29|syndromic X-linked intellectual disability due to GRIA3 anomalies|MRX94|syndromic X-linked intellectual disability 29|syndromic X-linked mental retardation Wu type|syndromic X-linked intellectual disability Wu type|mental retardation, X-linked, syndromic 29|intellectual disability, X-linked, syndromic 29|mental retardation, X-linked, syndromic, Wu type|MRXS29	http://purl.obolibrary.org/obo/MONDO_0010402	A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has material basis in mutation in the GRIA3 gene on chromosome Xq25.	DOID:0060823|UMLS:C2678051|http://identifiers.org/omim/300699|MESH:C567479
UBERON:0006283	future cardiac ventricle	biolink:AnatomicalEntity	mondo			primordial ventricle|early heart ventricle|future heart ventricle|presumptive cardiac ventricle heart tube|primitive ventricle|primitive ventricle of heart|primordial cardiac ventricle|embryonic heart ventricle|embryonic ventricle	http://purl.obolibrary.org/obo/UBERON_0006283	Multi-tissue structure that is part of the heart tube and will become the cardiac ventricle.	
MONDO:0010401	X-linked myopathy with postural muscle atrophy	biolink:Disease	mondo	DOID:0070251|ICD10:G71.0|OMIM:300696|UMLS:C2678055|Orphanet:178461	ordo_disease	myopathy, X-linked, with postural muscle atrophy; XMPMA|myopathy, X-linked, with postural muscle atrophy|XMPMA|Emery-Dreifuss muscular dystrophy 6, X-linked	http://purl.obolibrary.org/obo/MONDO_0010401	X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.	UMLS:C2678055|DOID:0070251|http://identifiers.org/omim/300696|ORPHA:178461
UBERON:0018260	layer of muscle tissue	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0018260	Any organ component layer that consists of muscle tissue.	
HGNC:4576	GRID2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4576		
UBERON:0018256	lacrimal vein	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0018256	A vein that drains a lacrimal gland.	
UBERON:0018257	submucosa of digestive tract	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0018257	Any portion of submucosa that lines the digestive tract.	
UBERON:0018254	skeletal musculature	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0018254		
UBERON:0018255	jejunal artery	biolink:AnatomicalEntity	mondo			jejunal branch of superior mesenteric artery	http://purl.obolibrary.org/obo/UBERON_0018255	A branch of the superior mesenteric artery that supplies the jejunum.	
MONDO:0009419	Woodhouse-Sakati syndrome	biolink:Disease	mondo	MESH:C536742|OMIM:241080|ICD10:Q87.8|SCTID:237616002|UMLS:C0342286|Orphanet:3464|ICD9:759.89|GARD:0005592	gard_rare|ordo_disease	hypogonadism, diabetes mellitus, alopecia, mental retardation, and electrocardiographic abnormalities|woodhouse-Sakati syndrome|woodhouse Sakati syndrome|diabetes-hypogonadism-deafness-intellectual disability syndrome|hypogonadism, diabetes mellitus, alopecia, intellectual disability, and electrocardiographic abnormalities|hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, intellectual disability, and alopecia|hypogonadism, alopecia, diabetes mellitus, intellectual disability, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia	http://purl.obolibrary.org/obo/MONDO_0009419	Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.	SNOMEDCT:237616002|UMLS:C0342286|MESH:C536742|http://identifiers.org/omim/241080|ORPHA:3464
MONDO:0009418	hypogonadism with low-grade mental deficiency and microcephaly	biolink:Disease	mondo	OMIM:241000|MESH:C565482|UMLS:C1855858		hypogonadism with low-grade mental deficiency and microcephaly	http://purl.obolibrary.org/obo/MONDO_0009418		MESH:C565482|http://identifiers.org/omim/241000|UMLS:C1855858
MONDO:0009417	hypergonadotropic hypogonadism-cataract syndrome	biolink:Disease	mondo	ICD10:E29.1|UMLS:C1855859|Orphanet:2410|OMIM:240950|SCTID:721233005|GARD:0000298|MESH:C543092	ordo_malformation_syndrome	hypogonadism-cataract syndrome|cataracts and testicular failure|Lubinsky syndrome|hypogonadism cataract syndrome	http://purl.obolibrary.org/obo/MONDO_0009417	This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family.	UMLS:C1855859|MESH:C543092|SNOMEDCT:721233005|http://identifiers.org/omim/240950|ORPHA:2410
MONDO:0009416	hypoinsulinemic hypoglycemia and body hemihypertrophy	biolink:Disease	mondo	OMIM:240900|UMLS:CN203155|Orphanet:293964	ordo_disease	hypoinsulinemic hypoglycemia with hemihypertrophy|hypoinsulinemic hypoglycemia with hemihypertrophy; HIHGHH|HIHGHH	http://purl.obolibrary.org/obo/MONDO_0009416		UMLS:CN203155|ORPHA:293964|http://identifiers.org/omim/240900
UBERON:0018251	meningeal vein	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0018251	One of the veins draining a meninix.	
MONDO:0009415	hypoglycemia, leucine-induced	biolink:Disease	mondo	EFO:0006856|GARD:0009915|OMIM:240800|SCTID:62151007|UMLS:C0271714|MESH:C537150		hypoglycemia, leucine-induced|LIH|hypoglycemia leucine-induced|hypoglycemia, leucine-induced; LIH|hypoglycemia leucine induced|leucine-sensitive hypoglycemia of infancy|familial infantile hypoglycemia precipitated by leucine	http://purl.obolibrary.org/obo/MONDO_0009415		SNOMEDCT:62151007|http://identifiers.org/omim/240800|MESH:C537150|UMLS:C0271714
MONDO:0009414	glycogen storage disease due to hepatic glycogen synthase deficiency	biolink:Disease	mondo	OMIM:240600|MESH:C565485|ICD10:E74.0|GARD:0002513|Orphanet:2089|UMLS:C0342748|UMLS:C1855861|SCTID:237964009|GARD:0002889	ordo_disease	GSD type 0a|glycogen storage disease type 0a|liver glycogen storage disease 0|glycogen storage disease type 0|hypoglycemia with deficiency of glycogen synthetase in the liver|glycogen storage disease due to liver glycogen synthase deficiency|liver glycogen storage disease due to glycogen synthase deficiency|glycogen storage disease due to glycogen synthase deficiency of liver|GSD0A|liver glycogen synthase deficiency|hepatic glycogen synthase deficiency|glycogen storage disease 0, liver; GSD0A|GSD 0A|glycogenosis type 0a|glycogen storage disease type 0, liver|liver GSD 0|GSD due to hepatic glycogen synthase deficiency|glycogen storage disease 0, liver|glycogen synthase deficiency	http://purl.obolibrary.org/obo/MONDO_0009414	Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.	SNOMEDCT:237964009|MESH:C565485|UMLS:C0342748|UMLS:C1855861|http://identifiers.org/omim/240600|ORPHA:2089
NCBITaxon:28450	Burkholderia pseudomallei	organism taxon	mondo	GC_ID:11|PMID:12734250|PMID:1283774		Bacterium whitmori|Malleomyces pseudomallei|Pseudomonas pseudomallei|Bacillus pseudomallei|Loefflerella pseudomallei	http://purl.obolibrary.org/obo/NCBITaxon_28450		
MONDO:0009413	immunodeficiency, common variable, 2	biolink:Disease	mondo	OMIM:240500|UMLS:C3150354		hypogammaglobulinemia due to TACI deficiency|antibody deficiency due to TACI defect|immunodeficiency, common variable, type 2|immunodeficiency, common variable, 2; CVID2|immunodeficiency, common variable, 2|CVID2	http://purl.obolibrary.org/obo/MONDO_0009413		UMLS:C3150354|http://identifiers.org/omim/240500
MONDO:0009412	scurvy	biolink:Disease	mondo	MedDRA:10039768|OMIM:240400|ICD10:E54|NCIT:C35010|GARD:0010406|UMLS:C0036474|DOID:13724|MESH:D012614|EFO:1001169	gard_rare	L-gulonolactone oxidase, nonfunctional|hypoascorbemia|scorbutus|Gulo, nonfunctional|vitamin C, inability to synthesize|vitamin C deficiency|L-gulonolactone oxidase pseudogene|deficiency of vitamin C|scurvy	http://purl.obolibrary.org/obo/MONDO_0009412	Scurvy is a condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include general weakness, fatigue and aching limbs. If left untreated, more serious problems can develop such as anemia, gum disease, and skin hemorrhages. Symptoms generally develop after at least 3 months of severe or total vitamin C deficiency. Scurvy can be cured with vitamin C supplements taken by mouth. Once recovery is complete, dietary modifications to ensure the 'recommended daily intake' of vitamin C is reached will prevent relapse. Except in the case of severe dental disease, permanent damage from scurvy does not usually occur.	MESH:D012614|UMLS:C0036474|DOID:13724|http://identifiers.org/omim/240400|NCIT:C35010
MONDO:0009411	autoimmune polyendocrine syndrome type 1	biolink:Disease	mondo	GARD:0005558|Orphanet:3453|ICD9:258.8|ICD10:E31.0|DOID:0050167|OMIM:240300|SCTID:11244009|NCIT:C129727|UMLS:C0085859|GARD:0008466	ordo_disease|gard_rare	autoimmune polyendocrinopathy syndrome type 1|autoimmune polyglandular syndrome, type 1|autoimmune polyendocrinopathy type 1|autoimmune polyendocrine syndrome type 1|ham syndrome|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy|polyglandular autoimmune syndrome, type 1|hypoadrenocorticism with hypoparathyroidism and superficial Moniliasis|autoimmune polyendocrinopathy caused by mutation in AIRE|autoimmune polyendocrinopathy caused by mutation in aire|PGA 1|autoimmune polyglandular syndrome type 1|autoimmune polyglandular syndrome I|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)|autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia; APS1|autoimmune polyendocrinopathy syndrome, type I, autosomal dominant|APS type 1|hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome|Whitaker syndrom|APECED syndrome|autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome|APS 1|Whitaker syndrome|AIRE autoimmune polyendocrinopathy|multiple endocrine deficiency-Addison disease-candidiasis syndrome|MEDAC syndrome|polyglandular autoimmune syndrome type 1|aire autoimmune polyendocrinopathy|autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia|polyglandular deficiency syndrome, Persian-Jewish type|APS1	http://purl.obolibrary.org/obo/MONDO_0009411	Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.	UMLS:C3494489|NCIT:C129727|http://identifiers.org/omim/240300|ORPHA:3453|MESH:C538275|SNOMEDCT:11244009|UMLS:C0085859|DOID:0050167
MONDO:0009410	Addison disease	biolink:Disease	mondo	ICD9:255.41|MedDRA:10001130|NCIT:C113814|ICD10:E27.1|SCTID:373662000|DOID:13774|COHD:4160059|GARD:0005740|OMIM:240200|Orphanet:85138|UMLS:C0271737	ordo_disease	autoimmune primary adrenal insufficiency|adrenal aplasia|Addison disease, chronic adrenal insufficiency|hypoadrenocorticism familial|autoimmune adrenalitis|autoimmune Addison disease|hypoadrenocorticism, familial|adrenal hypoplasia|Addison disease|primary adrenocortical insufficiency|primary hypoadrenalism|Addison's disease|primary Addison's disease|adrenal gland hypofunction|autoimmune Addison's disease|classic Addison's disease	http://purl.obolibrary.org/obo/MONDO_0009410	Addison disease (AD) is a chronic and rare endocrine disorder due to autoimmune destruction of the adrenal cortex and resulting in a glucocorticoid and mineralocorticoid deficiency. Properly speaking AD designates autoimmune adrenalitis, but it is a term commonly used to describe any form of chronic primary adrenal insufficiency (CPAI).	DOID:13774|SNOMEDCT:373662000|MEDDRA:10001130|NCIT:C113814|http://identifiers.org/omim/240200|UMLS:C0271737|UMLS:C0001403|ORPHA:85138|MESH:D000224
CHEBI:77182	food colouring	biolink:ChemicalSubstance	mondo			food colorings|food coloring|food colourings	http://purl.obolibrary.org/obo/CHEBI_77182	A food additive that imparts colour to food. In European countries, E-numbers for permitted food colours are from E 100 to E 199, divided into yellows (E 100-109), oranges (E 110-119), reds (E 120-129), blues and violets (E 130-139), greens (E 140-149), browns and blacks (E 150-159), and others (E 160-199).	
HGNC:4584	GRIN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4584		
NCBITaxon:53436	Treponema pallidum subsp. endemicum	organism taxon	mondo	GC_ID:11		Treponema pallidum endemicum	http://purl.obolibrary.org/obo/NCBITaxon_53436		
HGNC:4580	GRIK2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4580		
UBERON:0006273	otic pit	biolink:AnatomicalEntity	mondo			otic cup	http://purl.obolibrary.org/obo/UBERON_0006273	the pair of depressions of thickened otic placode epithelium, that further develops into the otic vesicles	
UBERON:0006272	oronasal cavity	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006272		
UBERON:0006271	orbital fissure	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006271	Either of two openings transmitting nerves and blood vessels to or from the orbit.	
HGNC:4588	GRIN2D	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4588		
HGNC:4586	GRIN2B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4586		
UBERON:0006279	pleuroperitoneal canal	biolink:AnatomicalEntity	mondo			pleuroperitoneal channel	http://purl.obolibrary.org/obo/UBERON_0006279	Each of the canals that links the peritoneal cavity and the caudal part of a pleural cavity.	
HGNC:4585	GRIN2A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4585		
UBERON:0018246	thyroid vein	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0018246	A vein that drains a thyroid gland.	
NCBITaxon:186817	Bacillaceae	organism taxon	mondo	GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_186817		
UBERON:0018243	thymic artery	biolink:AnatomicalEntity	mondo			thymic arteries|thymic branch of internal thoracic artery	http://purl.obolibrary.org/obo/UBERON_0018243	A vein that supplies blood to the thymus.	
UBERON:0018247	cervical thymic artery	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0018247	An artery that supplies a cervical thymus.	
UBERON:0006267	notochordal plate	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006267	The notochordal plate is the dorsal part of the notochordal process when the ventral portion breaks down. It is continuous laterally with the endoderm that composes the roof of the primitive foregut and is in contact dorsally with the neural tube. The folding off of the notochordal plate gives rise to the notochord.	
UBERON:0006266	nasolacrimal groove	biolink:AnatomicalEntity	mondo			s. lacrimalis maxillae|naso-lacrimal groove	http://purl.obolibrary.org/obo/UBERON_0006266	Groove between maxillary prominence and lateral nasal process.	
HGNC:4593	GRM1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4593		
UBERON:0006264	mouth-foregut junction	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006264	An anatomical junctions that overlaps the mouth and foregut.	
UBERON:0006261	male genital tubercle	biolink:AnatomicalEntity	mondo			genital tubercle of male|penis anlage	http://purl.obolibrary.org/obo/UBERON_0006261	A differentiated genital tubercle that is part of a male reproductive system.	
UBERON:0006260	lingual swellings	biolink:AnatomicalEntity	mondo			lingual swelling	http://purl.obolibrary.org/obo/UBERON_0006260		
CHEBI:16234	hydroxide	biolink:ChemicalSubstance	mondo			hydridooxygenate(1-)|hydroxide|HO-|OH-|oxidanide|OH(-)|HYDROXIDE ION|Hydroxide ion	http://purl.obolibrary.org/obo/CHEBI_16234		
HGNC:4598	GRM6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4598		
UBERON:0006268	notochordal process	biolink:AnatomicalEntity	mondo			chordamesoderm|presumptive notochord	http://purl.obolibrary.org/obo/UBERON_0006268	A midline cellular cord formed from the migration of mesenchymal cells from the primitive knot	
UBERON:0018234	stroma of pancreas	biolink:AnatomicalEntity	mondo			pancreatic stroma	http://purl.obolibrary.org/obo/UBERON_0018234	A stroma that is part of a pancreas.	
UBERON:0018235	capsule of pancreas	biolink:AnatomicalEntity	mondo			pancreatic capsule	http://purl.obolibrary.org/obo/UBERON_0018235	A capsule that divides the parenchyma of the pancreas into lobes and lobules	
UBERON:0018232	axillary sweat gland	biolink:AnatomicalEntity	mondo			axillary apocrine sweat gland|sweat gland of axilla	http://purl.obolibrary.org/obo/UBERON_0018232	A sweat gland that is part of a axilla.	
UBERON:0018239	rhombomere boundary	biolink:AnatomicalEntity	mondo			rhombomere junction	http://purl.obolibrary.org/obo/UBERON_0018239	A boundary delimiting a rhombomere.	
UBERON:0006256	knee joint primordium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006256		
UBERON:0006255	ischial pre-cartilage condensation	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006255	A ischial endochondral element that is composed primarily of a pre-cartilage condensation.	
UBERON:0006254	ischial cartilage element	biolink:AnatomicalEntity	mondo			ischial cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0006254	A ischial endochondral element that is composed primarily of cartilage tissue.	
NCBITaxon:186801	Clostridia	organism taxon	mondo	GC_ID:11|PMID:31076745|PMID:26410691			http://purl.obolibrary.org/obo/NCBITaxon_186801		
NCBITaxon:186804	Peptostreptococcaceae	organism taxon	mondo	GC_ID:11		Clostridium cluster XI	http://purl.obolibrary.org/obo/NCBITaxon_186804		
NCBITaxon:186802	Clostridiales	organism taxon	mondo	GC_ID:11|PMID:24480908|PMID:16558750		Eubacteriales	http://purl.obolibrary.org/obo/NCBITaxon_186802		
IAO:0000428	requires discussion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/IAO_0000428	A term that is metadata complete, has been reviewed, and problems have been identified that require discussion before release. Such a term requires editor note(s) to identify the outstanding issues.	
MONDO:0022423	obsolete alpha-2 deficient collagen disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0022423		
MONDO:0022424	alpha-mannosidosis type 1	biolink:Disease	mondo	UMLS:C2931251|MESH:C536584			http://purl.obolibrary.org/obo/MONDO_0022424		MESH:C536584|UMLS:C2931251
MONDO:0009449	ciliary dyskinesia with defective radial spokes	biolink:Disease	mondo	GARD:0002981|ICD9:759.89|UMLS:C0340035|MESH:C536286|SCTID:233664005|OMIM:242670		immotile cilia syndrome due to defective radial spokes|ciliary dyskinesia with defective radial spokes|immotile cilia syndrome, due to defective radial spokes|cilia with defective radial spokes	http://purl.obolibrary.org/obo/MONDO_0009449		http://identifiers.org/omim/242670|UMLS:C0340035|SNOMEDCT:233664005|MESH:C536286
MONDO:0022425	alpha-thalassemia-abnormal morphogenesis	biolink:Disease	mondo	GARD:0000362	gard_rare	homozygous alpha-thalassemia, genital abnormalities, and terminal transverse limb defects|Abuelo Forman Rubin syndrome	http://purl.obolibrary.org/obo/MONDO_0022425		
MONDO:0009448	iminoglycinuria	biolink:Disease	mondo	OMIM:242600|MESH:C536285|GARD:0008424|SCTID:84121007|Orphanet:42062|ICD9:270.8|UMLS:C0268654|ICD10:E72.0	gard_rare|ordo_disease	iminoglycinuria	http://purl.obolibrary.org/obo/MONDO_0009448	Iminoglycinuria is a metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait.	http://identifiers.org/omim/242600|SNOMEDCT:84121007|UMLS:C0268654|MESH:C536285|ORPHA:42062
MONDO:0010437	severe X-linked mitochondrial encephalomyopathy	biolink:Disease	mondo	UMLS:C3151753|SCTID:722212004|OMIM:300816|ICD10:G31.8|Orphanet:238329|DOID:0111502|UMLS:C4302745	ordo_disease	mitochondrial encephalomyopathy due to COXPD6|combined oxidative phosphorylation deficiency 6; COXPD6|combined oxidative phosphorylation deficiency 6|encephalomyopathy, mitochondrial, X-linked|mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6|combined oxidative phosphorylation deficiency type 6|COXPD6	http://purl.obolibrary.org/obo/MONDO_0010437	Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.	http://identifiers.org/omim/300816|ORPHA:238329|UMLS:C3151753|DOID:0111502|SNOMEDCT:722212004|UMLS:C4302745
MONDO:0009447	ichthyosis, split hairs, and amino aciduria	biolink:Disease	mondo	MESH:C565471|UMLS:C1855786|OMIM:242550		ichthyosis, split hairs, and amino aciduria	http://purl.obolibrary.org/obo/MONDO_0009447		UMLS:C1855786|http://identifiers.org/omim/242550|MESH:C565471
MONDO:0010436	chromosome Xq28 duplication syndrome	biolink:Disease	mondo	MESH:C567580|OMIM:300815|UMLS:C2749007		chromosome Xq28 duplication syndrome	http://purl.obolibrary.org/obo/MONDO_0010436		http://identifiers.org/omim/300815|MESH:C567580|UMLS:C2749007
MONDO:0009446	ichthyosis-intellectual disability-dwarfism-renal impairment syndrome	biolink:Disease	mondo	MESH:C536274|OMIM:242530|GARD:0004641|UMLS:C1855787|Orphanet:2278	ordo_malformation_syndrome	Passwell-Goodman-Siprkowski syndrome|ichthyosis intellectual deficit dwarfism renal impairment|ichthyosis, intellectual disability, dwarfism and renal impairment|ichthyosis, mental retardation, dwarfism, and renal impairment|ichthyosis, intellectual disability, dwarfism, and renal impairment|ichthyosis, mental retardation, dwarfism and renal impairment	http://purl.obolibrary.org/obo/MONDO_0009446	Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive.	http://identifiers.org/omim/242530|ORPHA:2278|MESH:C536274|UMLS:C1855787
MONDO:0010439	cardiomyopathy, fatal fetal, due to myocardial calcification	biolink:Disease	mondo	GARD:0008311|OMIM:300829|MESH:C543241|UMLS:C1853577	gard_rare	cardiomyopathy, fatal fetal, due to myocardial calcification|myocardial calcifications resulting in intrauterine fetal death	http://purl.obolibrary.org/obo/MONDO_0010439		MESH:C543241|http://identifiers.org/omim/300829|UMLS:C1853577
MONDO:0010438	paroxysmal nocturnal hemoglobinuria 1	biolink:Disease	mondo	OMIM:300818|UMLS:C3806670		paroxysmal nocturnal hemoglobinuria caused by mutation in PIGA|paroxysmal nocturnal hemoglobinuria caused by mutation in pIgA|PIGA paroxysmal nocturnal hemoglobinuria|pIgA paroxysmal nocturnal hemoglobinuria|PNH1|paroxysmal nocturnal hemoglobinuria 1|paroxysmal nocturnal hemoglobinuria type 1|paroxysmal nocturnal hemoglobinuria 1; PNH1	http://purl.obolibrary.org/obo/MONDO_0010438	Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGA gene.	UMLS:C3806670|http://identifiers.org/omim/300818
MONDO:0009445	ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome	biolink:Disease	mondo	OMIM:242520|GARD:0001993|ICD9:571.8|SCTID:403779009|MESH:C535727|UMLS:C1275088|ICD10:Q87.8|Orphanet:2274	ordo_disease	Dykes-Markes-Harper syndrome|Dykes-Marks-Harper syndrome|Dykes Markes Harper syndrome|ichthyosis, hepatosplenomegaly, and cerebellar degeneration	http://purl.obolibrary.org/obo/MONDO_0009445	Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterised by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked.	http://identifiers.org/omim/242520|MESH:C535727|UMLS:C1275088|ORPHA:2274|SNOMEDCT:403779009
MONDO:0009444	ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome	biolink:Disease	mondo	OMIM:242510|MESH:C537364|Orphanet:2269|GARD:0000292|UMLS:C1855788	ordo_disease	Jagell-Holmgren-Hofer syndrome|ichthyosis alopecia eclabion ectropion mental retardation|ichthyosis alopecia eclabion ectropion intellectual disability|ichthyosis with alopecia, eclabium, ectropion, and intellectual disability|Jagell Holmgren Hofer syndrome|ichthyosis with alopecia, eclabium, ectropion, and mental retardation	http://purl.obolibrary.org/obo/MONDO_0009444	Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.	ORPHA:2269|MESH:C537364|UMLS:C1855788|http://identifiers.org/omim/242510
MONDO:0009443	autosomal recessive congenital ichthyosis 4B	biolink:Disease	mondo	Orphanet:457|GARD:0006568|MedDRA:10019163|DOID:0060713|ICD10:Q80.4|SCTID:205548006|OMIM:242500|UMLS:C0239849|NCIT:C98934	ordo_disease	ARCI4B|ichthyosis, congenital, autosomal recessive 4B|ichthyosis, congenital, autosomal recessive 4B; ARCI4B|Harlequin fetus|harlequin type ichthyosis fetalis|harlequin type ichthyosis congenita|ichthyosis fetalis, Harlequin type|harlequin ichthyosis|hi|'Harlequin fetus'|ichthyosis congenita, Harlequin type|autosomal recessive congenital ichthyosis type 4B|ichthyosis, congenital, autosomal recessive type 4B|ichthyosis congenita, Harlequin fetus type	http://purl.obolibrary.org/obo/MONDO_0009443	Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.	DOID:0060713|NCIT:C98934|UMLS:C0598226|UMLS:C0239849|MEDDRA:10019163|ORPHA:457|SNOMEDCT:205548006|http://identifiers.org/omim/242500
MONDO:0009442	ichthyosis congenita with biliary atresia	biolink:Disease	mondo	GARD:0002948|SCTID:235916001|MESH:C562886|OMIM:242400	gard_rare	ichthyosis congenita with biliary atresia|ichthyosis congenita biliary atresia|congenital ichthyosis with biliary atresia	http://purl.obolibrary.org/obo/MONDO_0009442		MESH:C562886|SNOMEDCT:235916001|http://identifiers.org/omim/242400
MONDO:0009441	autosomal recessive congenital ichthyosis 1	biolink:Disease	mondo	ICD10:Q80.2|GARD:0003170|DOID:0060656|UMLS:C3536797|OMIM:242300	gard_rare	ichthyosis, lamellar, 1, formerly|lamellar ichthyosis, type 1|lamellar exfoliation of newborn|ichthyosis, lamellar, 1|ichthyosis, congenital, autosomal recessive 1; ARCI1|ichthyosis, congenital, autosomal recessive type 1|bathing suit ichthyosis|autosomal recessive congenital ichthyosis type 1|LI1|ichthyosis, congenital, autosomal recessive 1, with bathing suit distribution|ichthyosis congenita 2|ichthyosis congenita|desquamation of newborn|collodion baby, self-healing|ichthyosis lamellar 1|collodion fetus|ichthyosis, congenital, autosomal recessive 1|ARCI1	http://purl.obolibrary.org/obo/MONDO_0009441	Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the TGM1 gene.	DOID:0060656|UMLS:C3536797|http://identifiers.org/omim/242300
MONDO:0010440	autism, susceptibility to, X-linked 4	biolink:Disease	mondo	GARD:0003775|OMIM:300830	gard_rare|predisposition	autism, susceptibility to, X-linked 4|autism, susceptibility to, X-linked type 4|susceptibility to autism, X-linked|susceptibility to X-linked autism 4|AUTSX4|chromosome Xp22 deletion syndrome|autism, susceptibility to, X-linked 4; AUTSX4|X-linked susceptibility to autism-4	http://purl.obolibrary.org/obo/MONDO_0010440		http://identifiers.org/omim/300830
MONDO:0009440	ichthyosiform erythroderma, corneal involvement, and deafness	biolink:Disease	mondo	MESH:C537363|GARD:0002946|OMIM:242150|SCTID:403780007|UMLS:C1275089		Desmons syndrome|ichthyosiform erythroderma, corneal involvement, and deafness|keratitis-ichthyosis-deafness syndrome, autosomal recessive|ichthyosiform erythroderma, corneal involvement, deafness|Kid syndrome, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009440		MESH:C537363|http://identifiers.org/omim/242150|SNOMEDCT:403780007|UMLS:C1275089
MONDO:0010442	46,XX sex reversal 3	biolink:Disease	mondo	UMLS:C3151782|DOID:0111762|OMIM:300833		SRXX3|46,XX sex reversal 3|46,XX SEX reversal 3; SRXX3|chromosome Xq26 Duplication syndrome|chromosome Xq26 deletion syndrome|46,XX Sex reversal type 3|46,XX Sex reversal, Sox3-related	http://purl.obolibrary.org/obo/MONDO_0010442		http://identifiers.org/omim/300833|UMLS:C3151782|DOID:0111762
MONDO:0010441	CK syndrome	biolink:Disease	mondo	Orphanet:251383|OMIM:300831|UMLS:C3151781	ordo_malformation_syndrome	mental retardation, X-linked, with thin body habitus and cortical malformation|intellectual disability, X-linked, with thin body habitus and cortical malformation|CK syndrome|X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome	http://purl.obolibrary.org/obo/MONDO_0010441		UMLS:C3151781|ORPHA:251383|http://identifiers.org/omim/300831
MONDO:0010444	X-linked dyserythropoetic anemia with abnormal platelets and neutropenia	biolink:Disease	mondo	ICD10:D64.4|OMIM:300835|Orphanet:363727	ordo_disease	XLANP|anemia, X-linked, with or without neutropenia and/or platelet abnormalities; XLANP|anemia, X-linked, with or without neutropenia and/or platelet abnormalities	http://purl.obolibrary.org/obo/MONDO_0010444		http://identifiers.org/omim/300835|ORPHA:363727
MONDO:0010443	macular degeneration, X-linked atrophic	biolink:Disease	mondo	OMIM:300834|UMLS:C3151784		macular degeneration, X-linked atrophic	http://purl.obolibrary.org/obo/MONDO_0010443		http://identifiers.org/omim/300834|UMLS:C3151784
MONDO:0010446	X-linked cone dysfunction syndrome with myopia	biolink:Disease	mondo	Orphanet:90001|ICD10:H53.8|OMIM:300843|SCTID:718718009|UMLS:C3159311|MESH:C564092	ordo_disease	myopia, high, with nonprogressive cone dysfunction|BORNHOLM eye disease; bed|bed|BORNHOLM eye disease|Bornholm eye disease	http://purl.obolibrary.org/obo/MONDO_0010446	X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28.	http://identifiers.org/omim/300843|ORPHA:90001|UMLS:C3159311|MESH:C564092|SNOMEDCT:718718009
MONDO:0010445	obsolete McLeod syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0010445		
GO:0090407	organophosphate biosynthetic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0090407	The chemical reactions and pathways resulting in the biosynthesis of deoxyribose phosphate, the phosphorylated sugar 2-deoxy-erythro-pentose.	
MONDO:0022417	alopecia congenita keratosis palmoplantaris	biolink:Disease	mondo	MESH:C537050		alopecia congenita with keratosis palmoplantaris|alopecia congenita with hyperkeratosis of the palms and soles	http://purl.obolibrary.org/obo/MONDO_0022417		MESH:C537050
MONDO:0022418	obsolete alopecia immunodeficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0022418		
MONDO:0022410	retinal ciliopathy	biolink:Disease	mondo	Orphanet:156165	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0022410		ORPHA:156165
MONDO:0022412	obsolete albinism immunodeficiency	biolink:Disease	mondo	GARD:0000590	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022412		
MONDO:0022413	Albright-like syndrome	biolink:Disease	mondo	GARD:0000596	gard_rare	Albright like syndrome	http://purl.obolibrary.org/obo/MONDO_0022413		
MONDO:0022414	allain-babin-demarquez syndrome	biolink:Disease	mondo	GARD:0000124|Orphanet:1526	gard_rare	acro cephalo synostosis|craniosynostosis synostoses hypertensive nephropathy	http://purl.obolibrary.org/obo/MONDO_0022414		ORPHA:1526
MONDO:0009459	channelopathy-associated congenital insensitivity to pain, autosomal recessive	biolink:Disease	mondo	GARD:0012267|OMIM:243000|Orphanet:88642|ICD10:G60.8|UMLS:C1855739	ordo_disease	insensitivity to pain, channelopathy-associated|congenital analgesia, autosomal recessive|indifference to pain, congenital, autosomal recessive|neuropathy, hereditary sensory and autonomic, type 2D|channelopathy-associated CIP|HSAN2D|HSAN2D, AR|indifference to pain, congenital, autosomal recessive; CIP|CIP|asymbolia for pain	http://purl.obolibrary.org/obo/MONDO_0009459	A syndrome characterized by indifference to pain despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and intellectual disability may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)	UMLS:C0020075|ORPHA:88642|UMLS:C0002768|http://identifiers.org/omim/243000|MESH:D000699|UMLS:C1855739
MONDO:0010426	X-linked endothelial corneal dystrophy	biolink:Disease	mondo	Orphanet:293621|ICD10:H18.5|MESH:C567587|DOID:0060446|OMIM:300779|SCTID:718579008|UMLS:C2749049	ordo_disease	corneal dystrophy, endothelial, X-linked|XECD|corneal dystrophy, endothelial, X-linked; XECD|endothelial corneal dystrophy, X-linked	http://purl.obolibrary.org/obo/MONDO_0010426	X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.	ORPHA:293621|SNOMEDCT:718579008|http://identifiers.org/omim/300779|UMLS:C2749049|MESH:C567587|DOID:0060446
MONDO:0009458	Schimke immuno-osseous dysplasia	biolink:Disease	mondo	ICD10:Q77.7|OMIM:242900|Orphanet:1830|GARD:0004984|DOID:0060490|SCTID:723995003|MESH:C536629|MedDRA:10048699|UMLS:C0877024|NCIT:C135087	clingen|ordo_disease	SIOD|immunoosseous dysplasia Schimke type|Schimke immunoosseous dysplasia|IMMUNOOSSEOUS dysplasia, Schimke type|spondyloepiphyseal dysplasia nephrotic syndrome|Schimke IMMUNOOSSEOUS dysplasia; SIOD|Schimke Immunoosseous dysplasia|spondyloepiphyseal dysplasia-nephrotic syndrome|spondyloepiphyseal dysplasia - nephrotic syndrome|Schimke syndrome	http://purl.obolibrary.org/obo/MONDO_0009458	Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.	UMLS:C0877024|DOID:0060490|http://identifiers.org/omim/242900|NCIT:C135087|MEDDRA:10048699|SNOMEDCT:723995003|ORPHA:1830|MESH:C536629
MONDO:0010425	Lisch epithelial corneal dystrophy	biolink:Disease	mondo	OMIM:300778|UMLS:C2749050|ICD10:H18.5|MESH:C567588|SCTID:724175002|DOID:0060450|Orphanet:98955	ordo_disease	corneal dystrophy, Lisch epithelial; LECD|corneal dystrophy, Lisch epithelial|band-Shaped and whorled microcystic corneal epithelial dystrophy|LECD|band-shaped and whorled microcystic|band-shaped and whorled microcystic dystrophy of the corneal epithelium|Lisch epithelial corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0010425	Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision.	SNOMEDCT:724175002|http://identifiers.org/omim/300778|MESH:C567588|UMLS:C2749050|ORPHA:98955|DOID:0060450
MONDO:0009457	immunoglobulin d level in plasma, low	biolink:Disease	mondo	OMIM:242890		IMMUNOGLOBULIN D level in plasma, LOW	http://purl.obolibrary.org/obo/MONDO_0009457		http://identifiers.org/omim/242890
MONDO:0010428	chromosome Xp11.23-p11.22 duplication syndrome	biolink:Disease	mondo	ICD10:Q99.8|Orphanet:217377|GARD:0012766|MESH:C567585|SCTID:721881008|OMIM:300801|DOID:0060461	ordo_malformation_syndrome	microduplication Xp11.22-p11.23 syndrome|trisomy Xp11.22-p11.23|chromosome Xp11.23-p11.22 duplication syndrome	http://purl.obolibrary.org/obo/MONDO_0010428	A form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.	ORPHA:217377|SNOMEDCT:721881008|http://identifiers.org/omim/300801|MESH:C567585|DOID:0060461
MONDO:0009456	Immunoerythromyeloid hypoplasia	biolink:Disease	mondo	OMIM:242880|UMLS:CN074232		Immunoerythromyeloid hypoplasia	http://purl.obolibrary.org/obo/MONDO_0009456		http://identifiers.org/omim/242880|UMLS:CN074232
MONDO:0010427	syndromic X-linked intellectual disability Raymond type	biolink:Disease	mondo	DOID:0060824|UMLS:C3275406|OMIM:300799|ICD10:Q87.8		mental retardation, X-linked, syndromic, Raymond type; MRXSR|mental retardation, X-linked, syndromic, Raymond type|MRXSR|intellectual disability, X-linked, syndromic, Raymond type; MRXSR|intellectual disability, X-linked, syndromic, Raymond type|mental retardation, X-linked syndromic, Raymond type|intellectual disability, X-linked syndromic, Raymond type	http://purl.obolibrary.org/obo/MONDO_0010427	A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has material basis in mutation in the ZDHHC9 gene on chromosome Xq26.1.	DOID:0060824|UMLS:C3275406|http://identifiers.org/omim/300799
MONDO:0009455	immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes	biolink:Disease	mondo	OMIM:242870|MESH:C565468|UMLS:C1855762		immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes	http://purl.obolibrary.org/obo/MONDO_0009455		MESH:C565468|UMLS:C1855762|http://identifiers.org/omim/242870
MONDO:0010429	intellectual disability, X-linked 96	biolink:Disease	mondo	OMIM:300802|UMLS:C3275408		intellectual disability, X-linked 96; MRX96|intellectual disability, X-linked type 96|intellectual disability, X-linked 96|mental retardation, X-linked 96; MRX96|mental retardation, X-linked 96|MRX96|mental retardation, X-linked type 96|SYP non-syndromic X-linked intellectual disability|non-syndromic X-linked intellectual disability caused by mutation in SYP	http://purl.obolibrary.org/obo/MONDO_0010429	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the SYP gene.	UMLS:C3275408|http://identifiers.org/omim/300802
MONDO:0009454	immunodeficiency-centromeric instability-facial anomalies syndrome 1	biolink:Disease	mondo	DOID:0090008|NCIT:C156430|OMIM:242860|ICD10:D84.8		centromeric instability, immunodeficiency syndrome|immunodeficiency-centromeric instability-facial anomalies syndrome 1|immunodeficiency-centromeric instability-facial anomalies syndrome type 1|immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in DNMT3B|immunodeficiency-centromeric instability-Facial anomalies syndrome type 1|immunodeficiency-centromeric instability-facial anomalies syndrome 1; ICF1|ICF1|DNMT3B immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ICF syndrome 1	http://purl.obolibrary.org/obo/MONDO_0009454	Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the DNMT3B gene.	DOID:0090008|NCIT:C156430|http://identifiers.org/omim/242860
MONDO:0009453	immune deficiency disease	biolink:Disease	mondo	OMIM:242850|MESH:C565469|UMLS:C1855771		immune deficiency disease	http://purl.obolibrary.org/obo/MONDO_0009453		MESH:C565469|UMLS:C1855771|http://identifiers.org/omim/242850
MONDO:0009452	Vici syndrome	biolink:Disease	mondo	UMLS:C1855772|SCTID:719824001|MESH:C535566|GARD:0000448|ICD10:Q87.8|DOID:0060356|OMIM:242840|Orphanet:1493|NCIT:C138174	ordo_malformation_syndrome|gard_rare	Vici syndrome|immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|VICIS|Dionisi Vici Sabetta Gambarara syndrome|immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|Dionisi-Vici-Sabetta-Gambarara syndrome|Vici syndrome; VICIS|immunodeficiency with cleft Lip/palate, cataract, hypopigmentation, and absent corpus callosum|absent corpus callosum-cataract-immunodeficiency syndrome|absent corpus callosum cataract immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0009452	Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.	SNOMEDCT:719824001|ORPHA:1493|UMLS:C1855772|MESH:C535566|DOID:0060356|NCIT:C138174|http://identifiers.org/omim/242840
MONDO:0009451	Nezelof syndrome	biolink:Disease	mondo	UMLS:CN206066|ICD10:D81.4|ICD9:279.13|GARD:0007201|SCTID:55602000|MESH:C536288|DOID:2012|OMIM:242700|Orphanet:83471	ordo_disease	thymic aplasia|Nezelof's syndrome|immune defect due to absence of THYMUS|immune defect due to absence Of Thymus|T-lymphocyte deficiency|Nezelof syndrome	http://purl.obolibrary.org/obo/MONDO_0009451		SNOMEDCT:55602000|MESH:C536288|UMLS:CN206066|DOID:2012|ORPHA:83471|http://identifiers.org/omim/242700
MONDO:0009450	ciliary dyskinesia with excessively long cilia	biolink:Disease	mondo	SCTID:233665006|OMIM:242680|GARD:0002982|ICD9:759.89|MESH:C536287	gard_rare	ciliary dyskinesia with excessively long cilia|immotile cilia syndrome due to excessively long cilia	http://purl.obolibrary.org/obo/MONDO_0009450		MESH:C536287|http://identifiers.org/omim/242680|SNOMEDCT:233665006
MONDO:0010431	Joubert syndrome 10	biolink:Disease	mondo	UMLS:C2749019|OMIM:300804|MESH:C567582|DOID:0110981		OFD1 Joubert syndrome|JBTS10|Joubert syndrome caused by mutation in OFD1|Joubert syndrome 10|Joubert syndrome 10; JBTS10|Joubert syndrome type 10	http://purl.obolibrary.org/obo/MONDO_0010431	Any Joubert syndrome in which the cause of the disease is a mutation in the OFD1 gene.	http://identifiers.org/omim/300804|UMLS:C2749019|MESH:C567582|DOID:0110981
MONDO:0010430	intellectual disability, X-linked 97	biolink:Disease	mondo	UMLS:C2749020|OMIM:300803|MESH:C567583		mental retardation, X-linked 97|Mrxz|mental retardation, X-linked 97; MRX97|ZNF711 non-syndromic X-linked intellectual disability|MRX97|mental retardation, X-linked type 97|non-syndromic X-linked intellectual disability caused by mutation in ZNF711|intellectual disability, X-linked 65|mental retardation, X-linked 65|intellectual disability, X-linked 97; MRX97|intellectual disability, X-linked type 97|intellectual disability, X-linked 97	http://purl.obolibrary.org/obo/MONDO_0010430	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF711 gene.	http://identifiers.org/omim/300803|MESH:C567583|UMLS:C2749020
MONDO:0010433	systemic lupus erythematosus, susceptibility to, 15	biolink:Disease	mondo	OMIM:300809	predisposition	SLEB15|systemic lupus erythematosus, susceptibility to, 15; SLEB15|systemic lupus erythematosus, susceptibility to, 15	http://purl.obolibrary.org/obo/MONDO_0010433		http://identifiers.org/omim/300809
MONDO:0010432	thrombophilia, X-linked, due to factor 9 defect	biolink:Disease	mondo	UMLS:C2749016|OMIM:300807|MESH:C567581		THPH8|thrombophilia, X-linked, due to factor IX defect|deep Venous thrombosis, protection against|thrombophilia, X-linked, due to factor IX defect; THPH8	http://purl.obolibrary.org/obo/MONDO_0010432	A hemostatic disorder characterized by a tendency to thrombosis that has X-linked recessive inheritance, and can be caused by a gain-of-function mutation in the gene encoding factor IX (F9).	http://identifiers.org/omim/300807|MESH:C567581|UMLS:C2749016
MONDO:0010435	nystagmus 6, congenital, X-linked	biolink:Disease	mondo	OMIM:300814|UMLS:C3151752		nystagmus 6, congenital, X-linked|NYS6|NYSTAGMUS 6, congenital, X-linked; NYS6	http://purl.obolibrary.org/obo/MONDO_0010435		http://identifiers.org/omim/300814|UMLS:C3151752
MONDO:0010434	synovial sarcoma (disease)	biolink:Disease	mondo	GARD:0007721|UMLS:C0039101|ONCOTREE:SYNS|OMIM:300813|HP:0012570|ICD9:171.9|ICD10:C49.9|ICDO:9040/3|NCIT:C3400|EFO:0001376|DOID:5485|SCTID:302851001|MESH:D013584|MedDRA:10042863|Orphanet:3273	ordo_disease	sarcoma, synovial, malignant|synovial sarcoma|synovial sarcoma, not otherwise specified|Synovialosarcoma|sarcoma, synovial|synovial sarcoma, NOS|SS	http://purl.obolibrary.org/obo/MONDO_0010434	Synovial sarcoma is an aggressive soft tissue sarcoma, occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name).	ORPHA:3273|NCIT:C3400|UMLS:C0039101|MEDDRA:10042863|http://identifiers.org/omim/300813|DOID:5485|MESH:D013584|SNOMEDCT:302851001
MONDO:0022404	retinal ciliopathy due to mutation in usher gene	biolink:Disease	mondo	Orphanet:156177	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0022404		ORPHA:156177
MONDO:0022405	retinal ciliopathy due to mutation in nephronophthisis gene	biolink:Disease	mondo	Orphanet:156180	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0022405		ORPHA:156180
NCBITaxon:186820	Listeriaceae	organism taxon	mondo	GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_186820		
MONDO:0022406	obsolete aksu von stockhausen syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0022406		
MONDO:0022407	retinal ciliopathy due to mutation in bardet-biedl gene	biolink:Disease	mondo	Orphanet:156183	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0022407		ORPHA:156183
NCBITaxon:186826	Lactobacillales	organism taxon	mondo	GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_186826		
MONDO:0022409	nephropathy-associated ciliopathy	biolink:Disease	mondo	Orphanet:156162	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0022409		ORPHA:156162
MONDO:0022400	retinal ciliopathy due to mutation in the rpgrip gene	biolink:Disease	mondo	Orphanet:156174	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0022400		ORPHA:156174
MONDO:0009429	hypophosphatemia, renal, with intracerebral calcifications	biolink:Disease	mondo	MESH:C565478|UMLS:C1855809|OMIM:241519		hypophosphatemia, renal, with intracerebral calcifications	http://purl.obolibrary.org/obo/MONDO_0009429		MESH:C565478|UMLS:C1855809|http://identifiers.org/omim/241519
MONDO:0022401	agyria pachygyria polymicrogyria	biolink:Disease	mondo	GARD:0000572	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022401	Cortical malformations characterized by no gyri, broad gyri and/or an excessive number of abnormally small gyri that result in an irregular cortical surface with lumpy aspect.	
MONDO:0009428	childhood hypophosphatasia	biolink:Disease	mondo	Orphanet:247667|MESH:C562440|GARD:0008735|SCTID:30174008|ICD10:E83.3|UMLS:C0220743|DOID:0110915|OMIM:241510	ordo_clinical_subtype|gard_rare	pediatric hypophosphatasia|pediatric hypophosphatasia|childhood-onset hypophosphatasia|childhood-onset Rathburn disease|childhood-onset phosphoethanolaminuria|hypophosphatasia of childhood|hypophosphatasia, childhood	http://purl.obolibrary.org/obo/MONDO_0009428	Childhood-onset hypophosphatasia is a rare, mildform of hypophosphatasia characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures,skeletal deformities,and rickets with short stature and waddling gait.	DOID:0110915|http://identifiers.org/omim/241510|MESH:C562440|ORPHA:247667|UMLS:C0220743|SNOMEDCT:30174008
MONDO:0022402	agyria-pachygyria type 1	biolink:Disease	mondo	GARD:0000573	gard_rare	Bielchowsky type of lissencephaly|type I lissencephaly	http://purl.obolibrary.org/obo/MONDO_0022402	A disorder of neuronal migration that is characterized by abnormal cortex morphology, with pathological features including a variably decreased brain size, enlarged ventricles representing a stage of fetal development rather than hydrocephalus, heterotopia of the inferior olivary bodies that lie between the corpus pontobulbare and their normal location, aberrant or absent corticospinal tract, heterotopia of cerebellar granules and abnormally shaped dentate nuclei.	
MONDO:0022403	Ahumada Del Castillo syndrome	biolink:Disease	mondo	GARD:0005763	gard_rare	Argonz Del Castillo syndrome|Argonz Ahumada Del Castillo syndrome|galactorrhea amenorrhea without pregnancy|amenorrhea galactorrhea FSH decrease syndrome|nonpuerperal galactorrhe amenorrhea	http://purl.obolibrary.org/obo/MONDO_0022403	A syndrome characterized by galactorrhea and amenorrhea with symptoms of estrogenic insufficiency and absence of urinary gonadotropins.	
MONDO:0009427	infantile hypophosphatasia	biolink:Disease	mondo	ICD10:E83.3|Orphanet:247651|OMIM:241500|SCTID:55236002|DOID:0110914|UMLS:C0268412	ordo_clinical_subtype	hypophosphatasia, perinatal lethal|HOPS|hypophosphatasia, infantile|phosphoethanolaminuria|infantile Rathburn disease|infantile phosphoethanolaminuria	http://purl.obolibrary.org/obo/MONDO_0009427	Infantile hypophosphatasia (I-HPP) is a very rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization.	http://identifiers.org/omim/241500|DOID:0110914|ORPHA:247651|UMLS:C0268412|SNOMEDCT:55236002
MONDO:0009426	hypoparathyroidism-retardation-dysmorphism syndrome	biolink:Disease	mondo	Orphanet:2323|NCIT:C133727|UMLS:C1855840|GARD:0000411|ICD10:Q87.1|MESH:C537157|DOID:0060348|OMIM:241410	ordo_malformation_syndrome	Sanjad-Sakati syndrome|hypoparathyroidism with short stature, mental retardation, and seizures|hypoparathyroidism-intellectual disability-dysmorphism syndrome|hypoparathyroidism with short stature, mental retardation and seizures|hypoparathyroidism-retardation-dysmorphism syndrome; HRD|hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay|hypoparathyroidism-short stature-intellectual disability-seizures syndrome|hypoparathyroidism-retardation-dysmorphism syndrome|hypoparathyroidism, congenital, associated with Dysmorphism, Growth retardation, and developmental delay|hypoparathyroidism with short stature, intellectual disability and seizures|hypoparathyroidism-retardation-dysmorphism syndrome; HRDS|HRD|HRDS|hypoparathyroidism with short stature, intellectual disability and seizures|HRD syndrome|Richardson-Kirk syndrome|hypoparathyroidism with short stature, intellectual disability, and seizures|SSS	http://purl.obolibrary.org/obo/MONDO_0009426	Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features.	NCIT:C133727|UMLS:C1855840|http://identifiers.org/omim/241410|DOID:0060348|ORPHA:2323|MESH:C537157
MONDO:0010415	myopathy, reducing body, X-linked, childhood-onset	biolink:Disease	mondo	UMLS:C2678015|MESH:C567468|OMIM:300718		RBMX1B|reducing body myopathy, X-linked 1B, with late childhood or adult onset; RBMX1B|reducing body myopathy, X-linked 1B, with late childhood or adult onset|myopathy, reducing body, X-linked, childhood-onset	http://purl.obolibrary.org/obo/MONDO_0010415		UMLS:C2678015|http://identifiers.org/omim/300718|MESH:C567468
MONDO:0009425	hypomandibular faciocranial dysostosis	biolink:Disease	mondo	Orphanet:1790|MESH:C537154|ICD10:Q75.4|OMIM:241310|GARD:0002907|SCTID:721845005	ordo_malformation_syndrome|gard_rare	hypomandibular faciocranial dysostosis	http://purl.obolibrary.org/obo/MONDO_0009425	Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis.	SNOMEDCT:721845005|ORPHA:1790|UMLS:C1855848|http://identifiers.org/omim/241310|MESH:C537154
MONDO:0010414	myopathy, reducing body, X-linked, early-onset, severe	biolink:Disease	mondo	MESH:C567469|OMIM:300717|UMLS:C2678027		RBMX1A|reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset|reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset; RBMX1A|myopathy, reducing body, X-linked, early-onset, severe	http://purl.obolibrary.org/obo/MONDO_0010414		UMLS:C2678027|http://identifiers.org/omim/300717|MESH:C567469
MONDO:0009424	Bartter disease type 2	biolink:Disease	mondo	GARD:0009658|MESH:C537651|ICD10:E26.8|DOID:0110143|SCTID:700109009|OMIM:241200		Bartter syndrome type 2 antenatal|hypokalemic alkalosis with hypercalciuria 2 antenatal|hypokalemic alkalosis with hypercalciuria, antenatal, 2|hyperprostaglandin E syndrome 2|Bartter syndrome, type 2, antenatal|Bartter syndrome, antenatal, type 2|hyperprostaglandin E syndrome 2|Bartter syndrome antenatal type 2|BARTS2|Bartter syndrome caused by mutation in KCNJ1|hypokalemic alkalosis with hypercalciuria antenatal 2|hypokalemic alkalosis with hypercalciuria 2, antenatal|Bartter syndrome type 2|Bartter syndrome, type 2, antenatal; BARTS2|KCNJ1 Bartter syndrome	http://purl.obolibrary.org/obo/MONDO_0009424	Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene.	DOID:0110143|http://identifiers.org/omim/241200|MESH:C537651|SNOMEDCT:700109009
MONDO:0010417	syndromic X-linked intellectual disability Najm type	biolink:Disease	mondo	DOID:0060807|GARD:0012669|UMLS:C2677903|Orphanet:163937|OMIM:300749|ICD10:Q04.3|MESH:C567466	ordo_disease	MICPCH|intellectual disability and microcephaly with pontine and cerebellar hypoplasia|microcephaly with pontine and cerebellar hypoplasia|intellectual disability and microcephaly with pontine and cerebellar hypoplasia|intellectual disability and microcephaly with PONTINE and cerebellar hypoplasia; MICPCH|mental retardation and microcephaly with pontine and cerebellar hypoplasia|mental retardation and microcephaly with PONTINE and cerebellar hypoplasia; MICPCH|X-linked intellectual disability, Najm type|X-linked intellectual disability - microcephaly - pontocerebellar hypoplasia|intellectual disability, X-linked, syndromic, Najm type|Micpch syndrome|X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome|intellectual disability and microcephaly with PONTINE and cerebellar hypoplasia|mental retardation, X-linked, syndromic, Najm type|mental retardation and microcephaly with PONTINE and cerebellar hypoplasia	http://purl.obolibrary.org/obo/MONDO_0010417	Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.	DOID:0060807|http://identifiers.org/omim/300749|MESH:C567466|UMLS:C2677903|ORPHA:163937
MONDO:0009423	hypokalemic alkalosis, familial, with specific renal tubulopathy	biolink:Disease	mondo	OMIM:241150|SCTID:81987005|UMLS:C0268444|MESH:C562654		Gullner syndrome|hypokalemic alkalosis, familial, with specific renal tubulopathy|hypokalemia, familial	http://purl.obolibrary.org/obo/MONDO_0009423		http://identifiers.org/omim/241150|SNOMEDCT:81987005|MESH:C562654|UMLS:C0268444
MONDO:0010416	deafness, cataract, retinitis pigmentosa, and sperm abnormalities	biolink:Disease	mondo	UMLS:C2678011|MESH:C567467|OMIM:300719		deafness, cataract, retinitis pigmentosa, and sperm abnormalities	http://purl.obolibrary.org/obo/MONDO_0010416		UMLS:C2678011|http://identifiers.org/omim/300719|MESH:C567467
MONDO:0010419	obsolete X-linked sideroblastic anemia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0010419		
MONDO:0009422	hypohidrosis with abnormal palmar dermal Ridges	biolink:Disease	mondo	MESH:C565481|UMLS:C1855856|OMIM:241120		sweat gland hypoplasia|hypohidrosis with abnormal palmar dermal Ridges	http://purl.obolibrary.org/obo/MONDO_0009422		UMLS:C1855856|http://identifiers.org/omim/241120|MESH:C565481
MONDO:0010418	hereditary spastic paraplegia 34	biolink:Disease	mondo	DOID:0110785|UMLS:C2677897|ICD10:G11.4|OMIM:300750|SCTID:763370008|Orphanet:171607|MESH:C567465	ordo_disease	spastic paraplegia 34, X-linked|X-linked spastic paraplegia 34|SPG34|hereditary spastic paraplegia type 34|X-linked spastic paraplegia type 34|spastic paraplegia 34, X-linked; SPG34	http://purl.obolibrary.org/obo/MONDO_0010418	X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients.	DOID:0110785|ORPHA:171607|http://identifiers.org/omim/300750|MESH:C567465|SNOMEDCT:763370008|UMLS:C2677897
MONDO:0009421	hypogonadism, male	biolink:Disease	mondo	ICD9:257.2|SCTID:48723006|OMIM:241100		hypogonadism and testicular atrophy|hypogonadism, male	http://purl.obolibrary.org/obo/MONDO_0009421		http://identifiers.org/omim/241100|SNOMEDCT:48723006
MONDO:0009420	primary hypergonadotropic hypogonadism-partial alopecia syndrome	biolink:Disease	mondo	Orphanet:2232|SCTID:719275009|ICD10:E28.3|ICD10:E29.1|MESH:C567109|OMIM:241090	ordo_disease	Al Awadi-Farag-Teebi syndrome|hypergonadotropic hypogonadism and partial alopecia	http://purl.obolibrary.org/obo/MONDO_0009420	This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia.	http://identifiers.org/omim/241090|UMLS:C2931374|ORPHA:2232|MESH:C567109|SNOMEDCT:719275009
MONDO:0010420	X-linked erythropoietic protoporphyria	biolink:Disease	mondo	MESH:C567464|GARD:0010915|Orphanet:443197|OMIM:300752|ICD10:E80.0	ordo_disease	X-linked dominant protoporphyria|XLP|protoporphyria, erythropoietic, X-linked dominant|X-linked dominant erythropoietic protoporphyria|protoporphyria, erythropoietic, X-linked; XLEPP|protoporphyria, erythropoietic, X-linked|XLPP|XLEPP|erythropoietic protoporphyria, X-linked|XLDPP|Erythrohepatic protoporphyria, X-linked	http://purl.obolibrary.org/obo/MONDO_0010420	X-linked form of erythropoietic protoporphyria.	http://identifiers.org/omim/300752|MESH:C567464|ORPHA:443197
MONDO:0010422	Alzheimer disease 16	biolink:Disease	mondo	OMIM:300756|UMLS:C2677888|MESH:C567463|DOID:0110036		Alzheimer's disease 16|AD16|Alzheimer's disease type 16|Alzheimer disease 16|Alzheimer disease 16; AD16	http://purl.obolibrary.org/obo/MONDO_0010422	An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3.	http://identifiers.org/omim/300756|UMLS:C2677888|MESH:C567463|DOID:0110036
MONDO:0010421	Bruton-type agammaglobulinemia	biolink:Disease	mondo	SCTID:65880007|MedDRA:10060360|GARD:0001033|DOID:14179|OMIM:300755|NCIT:C3822|MESH:C537409|Orphanet:47|ICD10:D80.0|UMLS:C0221026	ordo_clinical_subtype	Bruton's agammaglobulinaemia|agammaglobulinemia, X-linked|agammaglobulinemia, BTK|Bruton-type agammaglobulinemia|BTK deficiency|X-linked agammaglobulinemia|Bruton agammaglobulinemia tyrosine kinase deficiency|hypogammaglobulinemia, X-linked|agammaglobulinemia, X-linked; XLA|Bruton's Sex-linked agammaglobulinemia|agammaglobulinemia, Bruton tyrosine kinase|Bruton's type agammaglobulinemia|Bruton's agammaglobulinemia|agammaglobulinemia, X-linked, type 1|XLA|Bruton's X-linked agammaglobulinemia|Bruton type agammaglobulinemia|BTK-deficiency|immunodeficiency 1	http://purl.obolibrary.org/obo/MONDO_0010421	X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, and is characterized in affected males by recurrent bacterial infections during infancy.	http://identifiers.org/omim/300755|NCIT:C3822|DOID:14179|MESH:C537409|UMLS:C0221026|MEDDRA:10060360|ORPHA:47|SNOMEDCT:65880007
MONDO:0010424	surfactant metabolism dysfunction, pulmonary, 4	biolink:Disease	mondo	OMIM:300770|UMLS:C2677877|MESH:C567461		Csf2Ra deficiency|SMDP4|Pap due to Csf2Ra deficiency|surfactant metabolism dysfunction, pulmonary, type 4|surfactant metabolism dysfunction, pulmonary, 4|surfactant metabolism dysfunction, pulmonary, 4; SMDP4|pulmonary alveolar proteinosis, congenital, 4	http://purl.obolibrary.org/obo/MONDO_0010424		http://identifiers.org/omim/300770|UMLS:C2677877|MESH:C567461
MONDO:0010423	hypospadias 2, X-linked	biolink:Disease	mondo	UMLS:C2677879|MESH:C567462|OMIM:300758		HYSP2|hypospadias 2, X-linked; HYSP2|hypospadias 2, X-linked	http://purl.obolibrary.org/obo/MONDO_0010423		http://identifiers.org/omim/300758|MESH:C567462|UMLS:C2677879
UBERON_CORE:conduit_for	conduit for	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/uberon/core#conduit_for	x is a conduit for y iff y passes through the lumen of x.	
MONDO:0009439	autosomal recessive congenital ichthyosis 2	biolink:Disease	mondo	NCIT:C132827|GARD:0009736|OMIM:242100|ICD10:Q80.2|DOID:0060710		Brocq congenital ichthyosiform erythroderma nonbullous form|ichthyosis, congenital, autosomal recessive 2|ichthyosis, congenital, autosomal recessive type 2|nonbullous congenital ichthyosiform erythroderma 1|ichthyosis, congenital, autosomal recessive 2; ARCI2|NCIE|ARCI2|ichthyosiform erythroderma, Brocq congenital, nonbullous form, formerly|ichthyosiform erythroderma, congenital, nonbullous, 1|ichthyosiform erythroderma, Brocq congenital, nonbullous form|ichthyosiform erythroderma, nonbullous congenital, 1, formerly|autosomal recessive congenital ichthyosis type 2|ichthyosiform erythroderma, nonbullous congenital, 1|NBCIE|NCIE1|collodion baby, self-healing	http://purl.obolibrary.org/obo/MONDO_0009439	An autosomal recessive condition caused by mutation(s) in the ALOX12B gene, encoding arachidonate 12-lipoxygenase, 12R-type. It is characterized by dry, thickened, scaly skin.	NCIT:C132827|http://identifiers.org/omim/242100|DOID:0060710
OBI:0000011	planned process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/OBI_0000011	A processual entity that realizes a plan which is the concretization of a plan specification.	
MONDO:0009438	hypouricemia, hypercalcinuria, and decreased bone density	biolink:Disease	mondo	MESH:C565475|OMIM:242050|UMLS:C1855793		hypouricemia, hypercalcinuria, and decreased bone density	http://purl.obolibrary.org/obo/MONDO_0009438		MESH:C565475|http://identifiers.org/omim/242050|UMLS:C1855793
MONDO:0010404	X-linked non progressive cerebellar ataxia	biolink:Disease	mondo	ICD10:G11.0|Orphanet:314978|SCTID:766818009|MESH:C567478|OMIM:300703|UMLS:C2678048	ordo_disease	X-linked spinocerebellar ataxia type 5|spinocerebellar ataxia, X-linked 5|SCAX5|spinocerebellar ataxia, X-linked 5; SCAX5	http://purl.obolibrary.org/obo/MONDO_0010404	X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.	SNOMEDCT:766818009|ORPHA:314978|UMLS:C2678048|http://identifiers.org/omim/300703|MESH:C567478
MONDO:0009437	Bamforth-Lazarus syndrome	biolink:Disease	mondo	GARD:0000414|SCTID:722375007|ICD10:E03.1|MESH:C537901|Orphanet:1226|DOID:0050655|OMIM:241850	ordo_malformation_syndrome	Bamforth syndrome|hypothyroidism, thyroidal or ATHYROIDAL, with spiky hair and cleft palate|Athyroidal hypothyroidism-spiky hair-cleft palate syndrome|hypothyroidism-cleft palate syndrome|hypothyroidism cleft palate hypothyroidism, athyroidal, with spiky hair and cleft palate|hypothyroidism, ATHYROIDAL, with spiky hair and cleft palate|Bamforth-Lazarus syndrome	http://purl.obolibrary.org/obo/MONDO_0009437	Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.	SNOMEDCT:722375007|DOID:0050655|MESH:C537901|UMLS:C1855794|http://identifiers.org/omim/241850|ORPHA:1226
UBERON:0006292	shoulder joint primordium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006292		
MONDO:0010403	albinism-deafness syndrome	biolink:Disease	mondo	SCTID:722285005|OMIM:300700|SCTID:74320008|ICD10:H90.5|MESH:C537042|Orphanet:998|GARD:0000589	ordo_malformation_syndrome|gard_rare	Ziprkowski–Margolis syndrome|Alds|ADFN|Woolf syndrome|Woolf's syndrome|albinism deafness syndrome|albinism-deafness syndrome; ADFN|albinism-deafness syndrome	http://purl.obolibrary.org/obo/MONDO_0010403	Albinism-deafness syndrome (ADFN) is characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.	UMLS:C1845068|http://identifiers.org/omim/300700|MESH:C537042|SNOMEDCT:722285005|SNOMEDCT:74320008|ORPHA:998
MONDO:0009436	congenital hypothalamic hamartoma syndrome	biolink:Disease	mondo	MESH:C537158|OMIM:241800|Orphanet:2113|GARD:0002934|ICD9:759.6|SCTID:237714006|NCIT:C4385	gard_rare	hypothalamic hamartomas|congenital hypothalamic hamartoma syndrome|hamartoma of the hypothalamus|hypothalamic hamartoma|hamartoma of hypothalamus	http://purl.obolibrary.org/obo/MONDO_0009436	Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery, or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome), the majority of cases are sporadic.	http://identifiers.org/omim/241800|NCIT:C4385|SNOMEDCT:237714006|ORPHA:2113|MESH:C537158
UBERON:0006291	scapula pre-cartilage condensation	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006291	A scapula endochondral element that is composed primarily of a pre-cartilage condensation.	
MONDO:0009435	hypospadias-intellectual disability, Goldblatt type syndrome	biolink:Disease	mondo	GARD:0002928|OMIM:241760|Orphanet:2261|ICD10:Q87.8|SCTID:716096005|MESH:C563067	gard_rare|ordo_malformation_syndrome	Goldblatt-Wallis syndrome|hypospadias intellectual disability Goldblatt type|hypospadias-intellectual disability syndrome|hypospadias mental retardation Goldblatt type|hypospadias mental retardation syndrome|hypospadias intellectual disability syndrome|hypospadias-mental retardation syndrome|Goldblatt Wallis syndrome|hypospadias intellectual deficit Goldblatt type	http://purl.obolibrary.org/obo/MONDO_0009435	Hypospasdias B intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails.	MESH:C563067|SNOMEDCT:716096005|http://identifiers.org/omim/241760|ORPHA:2261
MONDO:0010406	chromosome Xp11.22 duplication syndrome	biolink:Disease	mondo	OMIM:300705		intellectual disability, X-linked 31|mental retardation, X-linked 31|chromosome Xp11.22 duplication syndrome|intellectual disability, X-linked 17|mental retardation, X-linked 17	http://purl.obolibrary.org/obo/MONDO_0010406		http://identifiers.org/omim/300705
UBERON:0006290	scapula cartilage element	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006290	A scapula endochondral element that is composed primarily of cartilage tissue.	
MONDO:0009434	hypoproteinemia, hypercatabolic	biolink:Disease	mondo	UMLS:C1855796|OMIM:241600|MESH:C565476		hypoproteinemia, hypercatabolic|B2M deficiency|immunodeficiency 43|Beta-2-microglobulin deficiency|IMD43|immunodeficiency 43; IMD43	http://purl.obolibrary.org/obo/MONDO_0009434		UMLS:C1855796|http://identifiers.org/omim/241600|MESH:C565476
MONDO:0010405	HPCX2	biolink:Disease	mondo	UMLS:C2678047|OMIM:300704|MESH:C567477		HPCX2|prostate cancer, hereditary, X-linked 2|prostate cancer, hereditary, X-linked 2; HPCX2	http://purl.obolibrary.org/obo/MONDO_0010405		UMLS:C2678047|http://identifiers.org/omim/300704|MESH:C567477
MONDO:0009433	hypoplastic left heart syndrome 1	biolink:Disease	mondo	OMIM:241550|UMLS:CN031062		HLHS1|hypoplastic left heart syndrome 1; HLHS1|hypoplastic left heart syndrome 1|HLHS|hypoplastic left heart syndrome caused by mutation in GJA1|GJA1 hypoplastic left heart syndrome|hypoplastic left heart syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0009433	Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the GJA1 gene.	http://identifiers.org/omim/241550|UMLS:CN031062
MONDO:0010408	syndactyly-telecanthus-anogenital and renal malformations syndrome	biolink:Disease	mondo	MESH:C567475|GARD:0010295|ICD10:Q87.8|UMLS:C2678045|Orphanet:140952|OMIM:300707|SCTID:723581006	ordo_malformation_syndrome	toe syndactyly, telecanthus, and anogenital and renal malformations|Star syndrome|toe syndactyly, telecanthus, anogenital and renal malformations|toe syndactyly, telecanthus, and anogenital and renal malformations; STAR|STAR|STAR syndrome|syndactyly with renal and anogenital malformations|syndactyly, telecanthus, anogenital and renal malformations	http://purl.obolibrary.org/obo/MONDO_0010408	This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.	UMLS:C2678045|http://identifiers.org/omim/300707|SNOMEDCT:723581006|MESH:C567475|ORPHA:140952
MONDO:0010407	syndromic X-linked intellectual disability Turner type	biolink:Disease	mondo	MESH:C567476|UMLS:C0796272|DOID:0060829|OMIM:300612|Orphanet:85328|UMLS:C2678046|OMIM:300706|ICD10:Q87.8|Orphanet:3056|DOID:0060811|OMIM:309590|GARD:0005604|SCTID:725912001|MESH:C563154|GARD:0005610	ordo_disease|ordo_malformation_syndrome|gard_rare	mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown type|mental retardation, X-linked, syndromic, Turner type|mental retardation and macrocephaly syndrome|MRXST|X-linked intellectual disability, Turner type|X-linked mental retardation Brooks type|Brooks-Wisniewski-Brown Syndrome|mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown Type|Juberg-Marsidi Syndrome|X-linked intellectual disability, Brooks type|mental retardation, X-Linked, with growth retardation, deafness, and microgenitalism|Brooks Wisniewski Brown syndrome|Brooks-Wisniewski-Brown syndrome|mental retardation and macrocephaly syndrome	http://purl.obolibrary.org/obo/MONDO_0010407	X-linked intellectual disability, Turner type is characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant.	SNOMEDCT:725912001|MESH:C563154|DOID:0060811|DOID:0060829|UMLS:C2678046|ORPHA:3056|http://identifiers.org/omim/309590|UMLS:C0796272|http://identifiers.org/omim/300612|http://identifiers.org/omim/300706|MESH:C567476|ORPHA:85328
MONDO:0009432	hypopituitarism, congenital, with central diabetes insipidus	biolink:Disease	mondo	OMIM:241540|UMLS:C1855800|MESH:C565477		hypopituitarism, congenital, with central diabetes insipidus	http://purl.obolibrary.org/obo/MONDO_0009432		UMLS:C1855800|http://identifiers.org/omim/241540|MESH:C565477
MONDO:0009431	hereditary hypophosphatemic rickets with hypercalciuria	biolink:Disease	mondo	SCTID:237891005|ICD10:E83.3|DOID:0050947|Orphanet:157215|OMIM:241530|NCIT:C131450|UMLS:C1853271|MESH:C562793	ordo_disease	hypercalciuric hypophosphatemic rickets|hypercalciuric rickets|hypophosphatemic hypercalciuric rickets|HHRH|hypophosphatemic rickets with hypercalciuria, hereditary; HHRH|hypophosphatemic rickets with hypercalciuria, hereditary	http://purl.obolibrary.org/obo/MONDO_0009431	Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia.	UMLS:C1853271|ORPHA:157215|http://identifiers.org/omim/241530|MESH:C562793|SNOMEDCT:237891005|DOID:0050947|NCIT:C131450
MONDO:0010409	syndromic X-linked intellectual disability Shrimpton type	biolink:Disease	mondo	OMIM:300709|MESH:C567474|UMLS:C2678039|DOID:0060813|ICD10:Q87.8|Orphanet:85324	ordo_malformation_syndrome	intellectual disability, X-linked, syndromic 9|X-linked intellectual disability, Shrimpton type|mental retardation, X-linked, syndromic 9; MRXS9|MRXS9|intellectual disability, X-linked, syndromic 9; MRXS9|mental retardation, X-linked, syndromic 9	http://purl.obolibrary.org/obo/MONDO_0010409	X-linked intellectual disability, Shrimpton type is characterised by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localised to the q12-Xq21.31 region of the X-chromosome.	DOID:0060813|UMLS:C2678039|http://identifiers.org/omim/300709|MESH:C567474|ORPHA:85324
MONDO:0009430	hypophosphatemic rickets, autosomal recessive, 1	biolink:Disease	mondo	OMIM:241520|UMLS:C0342643|MESH:C562792		hypophosphatemic rickets, autosomal recessive, type 1|hypophosphatemia, autosomal recessive|ARHR1|autosomal recessive hypophosphatemic rickets caused by mutation in DMP1|hypophosphatemic rickets, autosomal recessive, 1; ARHR1|DMP1 autosomal recessive hypophosphatemic rickets|hypophosphatemic rickets, autosomal recessive, 1|Arhr	http://purl.obolibrary.org/obo/MONDO_0009430	Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the DMP1 gene.	http://identifiers.org/omim/241520|MESH:C562792|UMLS:C0342643
UBERON:0006298	submandibular gland primordium	biolink:AnatomicalEntity	mondo			submaxillary gland primordium	http://purl.obolibrary.org/obo/UBERON_0006298	A primordium that has the potential to develop into a submandibular gland.	
UBERON:0006297	sublingual gland primordium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006297	A primordium that has the potential to develop into a sublingual gland.	
MONDO:0010411	IHPS4	biolink:Disease	mondo	MESH:C567472|OMIM:300711|UMLS:C2678037		pyloric stenosis, infantile hypertrophic, 4; IHPS4|IHPS4|pyloric stenosis, infantile hypertrophic, 4	http://purl.obolibrary.org/obo/MONDO_0010411		UMLS:C2678037|http://identifiers.org/omim/300711|MESH:C567472
MONDO:0010410	AGA2	biolink:Disease	mondo	OMIM:300710|UMLS:C2678038|MESH:C567473		AGA2|alopecia, androgenetic, 2; AGA2|alopecia, androgenetic, 2	http://purl.obolibrary.org/obo/MONDO_0010410		UMLS:C2678038|http://identifiers.org/omim/300710|MESH:C567473
MONDO:0010413	MRX95	biolink:Disease	mondo	UMLS:C2678034|MESH:C567470|OMIM:300716		intellectual disability, X-linked 95; MRX95|MRX95|mental retardation, X-linked 95; MRX95|intellectual disability, X-linked 95|mental retardation, X-linked 95	http://purl.obolibrary.org/obo/MONDO_0010413		UMLS:C2678034|http://identifiers.org/omim/300716|MESH:C567470
MONDO:0010412	X-linked intellectual disability-craniofacioskeletal syndrome	biolink:Disease	mondo	MESH:C567471|ICD10:Q87.8|UMLS:C2678036|Orphanet:163979|OMIM:300712	ordo_disease	craniofacioskeletal syndrome	http://purl.obolibrary.org/obo/MONDO_0010412	X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.	UMLS:C2678036|http://identifiers.org/omim/300712|MESH:C567471|ORPHA:163979
UBERON:0006293	spleen primordium	biolink:AnatomicalEntity	mondo			spleen mesenchyme|splenic mesenchyme|left spleen primordium|splenic primordium	http://purl.obolibrary.org/obo/UBERON_0006293	A dense syncitial-like mesenchymal thickening in the dorsal mesogastrium[ISBN]. the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing spleen[MP].	
NCBITaxon:424574	Solaneae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_424574		
GO:2000468	regulation of peroxidase activity	biolink:OntologyClass	mondo			regulation of peroxidase reaction|regulation of oxyperoxidase activity|regulation of donor:hydrogen-peroxide oxidoreductase activity	http://purl.obolibrary.org/obo/GO_2000468	Any process that modulates the frequency, rate or extent of peroxidase activity.	
GO:2000469	negative regulation of peroxidase activity	biolink:OntologyClass	mondo			negative regulation of oxyperoxidase activity|negative regulation of donor:hydrogen-peroxide oxidoreductase activity|negative regulation of peroxidase reaction	http://purl.obolibrary.org/obo/GO_2000469	Any process that stops, prevents or reduces the frequency, rate or extent of peroxidase activity.	
UBERON:0018303	adrenal tissue	biolink:AnatomicalEntity	mondo			adrenal gland tissue	http://purl.obolibrary.org/obo/UBERON_0018303	Tissue that is part of some adrenal gland	
UBERON:0006321	superior oblique extraocular muscle	biolink:AnatomicalEntity	mondo			dorsal oblique extraocular muscle|obliquus oculi superior|musculus obliquus superior|M. obliquus superior|musculus obliquus superior bulbi|superior oblique|dorsal oblique extraocular muscles|superior oblique muscle|obliquus superior	http://purl.obolibrary.org/obo/UBERON_0006321	The superior oblique muscle, or obliquus oculi superior, is a fusiform muscle in the upper, medial side of the orbit whose primary action is downward, lateral rotation of the eye. One of the extraocular muscles, the superior oblique is the only muscle innervated by the trochlear nerve (the fourth cranial nerve).	
UBERON:0008987	renal parenchyma	biolink:AnatomicalEntity	mondo			kidney parenchyma|parenchyma of kidney	http://purl.obolibrary.org/obo/UBERON_0008987	The functional tissue of the kidney, consisting of the nephrons.	
GO:2000463	positive regulation of excitatory postsynaptic potential	biolink:OntologyClass	mondo			positive regulation of EPSP|positive regulation of excitatory post-synaptic membrane potential	http://purl.obolibrary.org/obo/GO_2000463	Any process that enhances the establishment or increases the extent of the excitatory postsynaptic potential (EPSP) which is a temporary increase in postsynaptic potential due to the flow of positively charged ions into the postsynaptic cell. The flow of ions that causes an EPSP is an excitatory postsynaptic current (EPSC) and makes it easier for the neuron to fire an action potential.	
UBERON:0008989	submocosal esophageal gland	biolink:AnatomicalEntity	mondo			mucous gland of submucosa of esophagus|glandulae oesophageae|esophageal gland	http://purl.obolibrary.org/obo/UBERON_0008989	One of the racemose glands in the walls of the esophagus that in humans are small and serve principally to lubricate the food but in some birds secrete a milky fluid on which the young are fed.	
UBERON:0008982	fascia	biolink:AnatomicalEntity	mondo			fascia cluster	http://purl.obolibrary.org/obo/UBERON_0008982	A dense regular connective tissue that that connects muscles together[WP, modified].	
GO:0004415	hyalurononglucosaminidase activity	biolink:OntologyClass	mondo			hyaluronoglucosidase activity|chondroitinase activity|chondroitinase I activity|hyaluronate 4-glycanohydrolase activity|hyaluronoglucosaminidase activity|hyaluronidase activity	http://purl.obolibrary.org/obo/GO_0004415	Catalysis of the random hydrolysis of (1->4) linkages between N-acetyl-beta-D-glucosamine and D-glucuronate residues in hyaluronate.	
GO:2000470	positive regulation of peroxidase activity	biolink:OntologyClass	mondo			positive regulation of donor:hydrogen-peroxide oxidoreductase activity|positive regulation of peroxidase reaction|positive regulation of oxyperoxidase activity	http://purl.obolibrary.org/obo/GO_2000470	Any process that activates or increases the frequency, rate or extent of peroxidase activity.	
UBERON:0006311	chamber of eyeball	biolink:AnatomicalEntity	mondo			eye chamber|eyeball chamber|chamber of eye	http://purl.obolibrary.org/obo/UBERON_0006311	A segment of the eyeball that is filled with refractive media	
UBERON:0008974	apocrine gland	biolink:AnatomicalEntity	mondo			true apocrine gland	http://purl.obolibrary.org/obo/UBERON_0008974	any exocrine gland whose cells bud their secretions off through the plasma membrane producing membrane-bound vesicles in the lumen; the apical portion of the secretory cell of the gland pinches off and enters the lumen; it loses part of its cytoplasm in their secretions; apocrine secretion is functional during hormonal stress or puberty; an example of true apocrine glands are mammary glands, responsible for secreting breast milk.	
OIO:hasRelatedSynonym	has_related_synonym	biolink:OntologyClass	mondo				http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym		
NCBITaxon:2585030	unclassified Riboviria	organism taxon	mondo	GC_ID:1		unclassified RNA viruses	http://purl.obolibrary.org/obo/NCBITaxon_2585030		
UBERON:0006314	bodily fluid	biolink:AnatomicalEntity	mondo			fluid|fluid|body fluid	http://purl.obolibrary.org/obo/UBERON_0006314	Liquid components of living organisms. includes fluids that are excreted or secreted from the body as well as body water that normally is not.	
UBERON:0008971	left colon	biolink:AnatomicalEntity	mondo			distal colon	http://purl.obolibrary.org/obo/UBERON_0008971	The distal portion of the colon; it develops embryonically from the hindgut and functions in the storage and elimination of waste.	
UBERON:0006312	ocular refractive media	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006312	Body substance in a liquid or semi-solid state in the eyeball which serves to refract light.	
HGNC:4507	GABBR2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4507		
NCBITaxon:424551	Solanoideae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_424551		
UBERON:0008969	dental follicle	biolink:AnatomicalEntity	mondo			dental sac|tooth follicle	http://purl.obolibrary.org/obo/UBERON_0008969	A sac containing the developing tooth and its odontogenic organ. The dental follicle (DF) differentiates into the periodontal ligament. In addition, it may be the precursor of other cells of the periodontium, including osteoblasts, cementoblasts and fibroblasts. They develop into the alveolar bone, the cementum with Sharpey's fibers and the periodontal ligament fibers respectively.	
CHEBI:16199	urea	biolink:ChemicalSubstance	mondo			carbonyldiamide|E927b|Harnstoff|H2NC(O)NH2|carbamide|Carbamide|uree|urea|Karbamid|Urea|UREA|ur|1728	http://purl.obolibrary.org/obo/CHEBI_16199	A carbonyl group with two C-bound amine groups. The commercially available fertilizer has an analysis of 46-0-0 (N-P2O5-K2O).	
UBERON:0006306	ulna cartilage element	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006306	A cartilaginous condensation that has the potential to develop into a ulna.	
HGNC:4512	ADGRG1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4512		
UBERON:0006304	future trigeminal ganglion	biolink:AnatomicalEntity	mondo			trigeminal preganglion|trigeminal V preganglion	http://purl.obolibrary.org/obo/UBERON_0006304		
HGNC:4510	KISS1R	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4510		
UBERON:0008962	forelimb bone	biolink:AnatomicalEntity	mondo			wing bone|free forelimb bone	http://purl.obolibrary.org/obo/UBERON_0008962	A bone that is part of a forelimb region. Examples: humerus, any of the phalanges. Counter-example: scapula (a bone of the pectoral girdle). Note that we consider the forelimb to end at the shoulder.	
HGNC:4519	GPR68	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4519		
HGNC:4516	ADGRG2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4516		
HP:0025580	Abnormal right atrium morphology	biolink:PhenotypicFeature	mondo	Fyler:1770			http://purl.obolibrary.org/obo/HP_0025580	Any structural abnormality of the right atrium.	
UBERON:0008951	left lung lobe	biolink:AnatomicalEntity	mondo			lobe of the left lung|lobe of left lung	http://purl.obolibrary.org/obo/UBERON_0008951	A lobe of lung that is part of a left lung.	
NCBITaxon:53469	Ancylostomatinae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_53469		
CHEBI:16134	ammonia	biolink:ChemicalSubstance	mondo			azane|Ammoniak|R-717|spirit of hartshorn|[NH3]|amoniaco|Ammonia|ammonia|AMMONIA|ammoniac|NH3	http://purl.obolibrary.org/obo/CHEBI_16134	An azane that consists of a single nitrogen atom covelently bonded to three hydrogen atoms.	
NCBITaxon:53467	Mesocestoides	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_53467		
NCBITaxon:53466	Mesocestoididae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_53466		
HGNC:4539	GPR88	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4539		
NCBITaxon:172148	Alkhumra hemorrhagic fever virus	organism taxon	mondo	GC_ID:1		AHFV	http://purl.obolibrary.org/obo/NCBITaxon_172148		
UBERON:0006355	superior vesical vein	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006355		
UBERON:0006356	epigastric vein	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006356	A vein that drains the anterior abdominal wall.	
UBERON:0018321	foramen for glossopharyngeal nerve	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0018321	Foramen that allows the passge of the glossopharyngeal nerve (cranial nerve IX).	
UBERON:0018326	ilioischiadic foramen	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0018326	Situated just caudal to the acetabulum, the foramen is bound dorsally by the illium and ventrally by the ischium. The foramen transmitts the ischiadic nerves and vessels (Baumel et al. 1993)	
HGNC:4551	TECR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4551		
UBERON:0006340	fourth ventricle choroid plexus stroma	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006340	A choroid plexus stroma that is part of a fourth ventricle.	
UBERON:0006349	epigastric artery	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006349	An external iliac artery branch that supplies blood to the anterior abdominal wall.	
HGNC:4556	GPX4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4556		
UBERON:0006347	communicating artery	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006347	An artery that connects two larger arteries.	
HGNC:4553	GPX1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4553		
CHEBI:16150	benzoate	biolink:ChemicalSubstance	mondo			benzoate anion|Benzenecarboxylate|Phenylformate|Benzenemethanoate|benzoate|benzoic acid, ion(1-)|Phenylcarboxylate|Benzeneformate	http://purl.obolibrary.org/obo/CHEBI_16150	The simplest member of the class of  benzoates that is the conjugate base of benzoic acid, comprising a benzoic acid core with a proton missing to give a charge of -1.	
CHEBI:28112	nickel atom	biolink:ChemicalSubstance	mondo			28Ni|niccolum|nickel|Raney alloy|Ni|nickel|Nickel|niquel	http://purl.obolibrary.org/obo/CHEBI_28112	Chemical element (nickel group element atom) with atomic number 28.	
UBERON:0008998	vasculature of brain	biolink:AnatomicalEntity	mondo			brain vasculature|cerebrovascular system|intracerebral vasculature	http://purl.obolibrary.org/obo/UBERON_0008998	System pertaining to blood vessels in the brain.	
UBERON:0006331	brainstem nucleus	biolink:AnatomicalEntity	mondo			brain stem nucleus	http://purl.obolibrary.org/obo/UBERON_0006331	A nucleus of brain that is part of a brainstem.	
UBERON:0006339	third ventricle choroid plexus stroma	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006339	A choroid plexus stroma that is part of a third ventricle.	
UBERON:0006338	lateral ventricle choroid plexus stroma	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006338	A choroid plexus stroma that is part of a lateral ventricle.	
GO:0004485	methylcrotonoyl-CoA carboxylase activity	biolink:OntologyClass	mondo			methylcrotonyl-CoA carboxylase activity|3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)|beta-methylcrotonyl CoA carboxylase activity|MCCC activity|methylcrotonyl coenzyme A carboxylase activity|beta-methylcrotonyl-CoA carboxylase activity|beta-methylcrotonyl coenzyme A carboxylase activity	http://purl.obolibrary.org/obo/GO_0004485	Catalysis of the reaction: 3-methylbut-2-enoyl-CoA + ATP + bicarbonate = trans-3-methylglutaconyl-CoA + ADP + 2 H(+) + phosphate.	
GO:0016469	proton-transporting two-sector ATPase complex	biolink:OntologyClass	mondo			hydrogen-transporting two-sector ATPase complex|vacuolar hydrogen-transporting ATPase	http://purl.obolibrary.org/obo/GO_0016469	A large protein complex that catalyzes the synthesis or hydrolysis of ATP by a rotational mechanism, coupled to the transport of protons across a membrane. The complex comprises a membrane sector (F0, V0, or A0) that carries out proton transport and a cytoplasmic compartment sector (F1, V1, or A1) that catalyzes ATP synthesis or hydrolysis. Two major types have been characterized: V-type ATPases couple ATP hydrolysis to the transport of protons across a concentration gradient, whereas F-type ATPases, also known as ATP synthases, normally run in the reverse direction to utilize energy from a proton concentration or electrochemical gradient to synthesize ATP. A third type, A-type ATPases have been found in archaea, and are closely related to eukaryotic V-type ATPases but are reversible.	
GO:0004497	monooxygenase activity	biolink:OntologyClass	mondo			hydroxylase activity	http://purl.obolibrary.org/obo/GO_0004497	Catalysis of the incorporation of one atom from molecular oxygen into a compound and the reduction of the other atom of oxygen to water.	
HP:0001574	Abnormality of the integument	biolink:PhenotypicFeature	mondo	UMLS:C4025761			http://purl.obolibrary.org/obo/HP_0001574	An abnormality of the integument, which consists of the skin and the superficial fascia.	
GO:0016477	cell migration	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016477	The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms.	
GO:0004466	long-chain-acyl-CoA dehydrogenase activity	biolink:OntologyClass	mondo			long-chain-acyl-CoA:(acceptor) 2,3-oxidoreductase activity|palmitoyl-coenzyme A dehydrogenase activity|long-chain acyl-coenzyme A dehydrogenase activity|long-chain-acyl-CoA:acceptor 2,3-oxidoreductase activity|palmitoyl-CoA dehydrogenase activity	http://purl.obolibrary.org/obo/GO_0004466	Catalysis of the reaction: acyl-CoA + ETF = 2,3-dehydroacyl-CoA + reduced ETF.	
HP:0001548	Overgrowth	biolink:PhenotypicFeature	mondo	UMLS:C1849265|UMLS:C3150281|UMLS:C1851731		Generalized overgrowth|General overgrowth	http://purl.obolibrary.org/obo/HP_0001548	Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.	
HP:0001541	Ascites	biolink:PhenotypicFeature	mondo	MSH:D001201|SNOMEDCT_US:389026000|UMLS:C0003962	hposlim_core	Accumulation of fluid in the abdomen	http://purl.obolibrary.org/obo/HP_0001541	Accumulation of fluid in the peritoneal cavity.	
GO:0016444	somatic cell DNA recombination	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016444	Recombination occurring within or between DNA molecules in somatic cells.	
GO:0016445	somatic diversification of immunoglobulins	biolink:OntologyClass	mondo			somatic diversification of antibodies	http://purl.obolibrary.org/obo/GO_0016445	The somatic process that results in the generation of sequence diversity of immunoglobulins.	
GO:0016447	somatic recombination of immunoglobulin gene segments	biolink:OntologyClass	mondo			somatic recombination of antibody gene segments	http://purl.obolibrary.org/obo/GO_0016447	The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, as known as immunoglobulin gene segments, within a single locus.	
HP:0001558	Decreased fetal movement	biolink:PhenotypicFeature	mondo	UMLS:C0235659|SNOMEDCT_US:276369006		Decreased foetal movement|Reduced fetal movements|Reduced fetal movement|Decreased movement in utero|Decreased fetal movements|Decreased fetal activity|Less than 10 fetal movements in 12 hours|Fetal hypokinesia	http://purl.obolibrary.org/obo/HP_0001558	An abnormal reduction in quantity or strength of fetal movements.	
HP:0001557	Prenatal movement abnormality	biolink:PhenotypicFeature	mondo	UMLS:C1849510		Abnormal intrauterine movements	http://purl.obolibrary.org/obo/HP_0001557	An abnormality of fetal movement.	
GO:0090394	negative regulation of excitatory postsynaptic potential	biolink:OntologyClass	mondo			reduction of excitatory postsynaptic membrane potential|negative regulation of excitatory post-synaptic membrane potential|negative regulation of EPSP	http://purl.obolibrary.org/obo/GO_0090394	Any process that prevents the establishment or decreases the extent of the excitatory postsynaptic potential (EPSP) which is a temporary increase in postsynaptic potential due to the flow of positively charged ions into the postsynaptic cell. The flow of ions that causes an EPSP is an excitatory postsynaptic current (EPSC) and makes it easier for the neuron to fire an action potential.	
GO:0016454	C-palmitoyltransferase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016454	Catalysis of the transfer of a palmitoyl group to a carbon atom on the acceptor molecule.	
OGMS:0000087	extended organism	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/OGMS_0000087		
UBERON:0008946	lung parenchyma	biolink:AnatomicalEntity	mondo			parenchyma of lung|respiratory portion of lung|pulmonary parenchyma	http://purl.obolibrary.org/obo/UBERON_0008946	A parenchyma that is part of a lung.	
UBERON:0008947	respiratory primordium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0008947		
HGNC:11480	SVIL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11480		
GO:0016421	CoA carboxylase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016421	Catalysis of the joining of a carboxyl group to a molecule that is attached to CoA, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate.	
GO:0004457	lactate dehydrogenase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0004457	Catalysis of the reaction: lactate + NAD+ = H+ + NADH + pyruvate.	
HGNC:11497	SYNGAP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11497		
HGNC:11495	SYN2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11495		
HGNC:11494	SYN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11494		
GO:0004423	iduronate-2-sulfatase activity	biolink:OntologyClass	mondo			sulfoiduronate sulfohydrolase activity|L-iduronosulfatase activity|iduronate-2-sulfate sulfatase activity|2-sulfo-L-iduronate 2-sulfatase activity|iduronate sulfatase activity|chondroitinsulfatase|L-idurono sulfate sulfatase activity|sulfo-L-iduronate sulfatase activity|idurono-2-sulfatase activity|iduronide-2-sulfate sulfatase activity|iduronate sulfate sulfatase activity|iduronate-2-sulphatase activity|L-iduronate-2-sulfate 2-sulfohydrolase activity|L-iduronate 2-sulfate sulfatase activity	http://purl.obolibrary.org/obo/GO_0004423	Catalysis of the hydrolysis of the 2-sulfate groups of the L-iduronate 2-sulfate units of dermatan sulfate, heparan sulfate and heparin.	
GO:0016408	C-acyltransferase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016408	Catalysis of the transfer of an acyl group to a carbon atom on the acceptor molecule.	
OGMS:0000060	bodily process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/OGMS_0000060	A process in which at least one bodily component of an organsim participates.	
GO:0016409	palmitoyltransferase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016409	Catalysis of the transfer of a palmitoyl (CH3-[CH2]14-CO-) group to an acceptor molecule.	
GO:0016406	carnitine O-acyltransferase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016406	Catalysis of the transfer of an acyl group to an oxygen atom on the carnitine molecule.	
GO:0016407	acetyltransferase activity	biolink:OntologyClass	mondo			acetylase activity	http://purl.obolibrary.org/obo/GO_0016407	Catalysis of the transfer of an acetyl group to an acceptor molecule.	
HP:0001581	Recurrent skin infections	biolink:PhenotypicFeature	mondo	UMLS:C1853193		Cutaneous infections|Skin infections, recurrent|Recurrent skin infections	http://purl.obolibrary.org/obo/HP_0001581	Infections of the skin that happen multiple times.	
HGNC:11460	SUOX	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11460		
UBERON:0008907	dermal bone	biolink:AnatomicalEntity	mondo			dermal bones	http://purl.obolibrary.org/obo/UBERON_0008907	Skeletal element that forms superficially in the organism, usually in association with the ectoderm[VSAO].	
UBERON:0008909	perichordal bone	biolink:AnatomicalEntity	mondo			perichordal bones|perichordal bone	http://purl.obolibrary.org/obo/UBERON_0008909	Bone element that is adjacent to the notochord.	
HGNC:23452	LIPN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23452		
HP:0001596	Alopecia	biolink:PhenotypicFeature	mondo	MSH:D000505|SNOMEDCT_US:278040002|SNOMEDCT_US:56317004|UMLS:C0002170|MEDDRA:10001760	hposlim_core	Hair loss	http://purl.obolibrary.org/obo/HP_0001596	A noncongenital process of hair loss, which may progress to partial or complete baldness.	
HP:0001597	Abnormality of the nail	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:17790008|MSH:D009264|UMLS:C0853087|MSH:D009260|UMLS:C0027339		Abnormality of the nail|Nail disease	http://purl.obolibrary.org/obo/HP_0001597	Abnormality of the nail.	
HP:0001595	Abnormal hair morphology	biolink:PhenotypicFeature	mondo	UMLS:C2677869|UMLS:C0157733	hposlim_core	Abnormality of the hair shaft|Abnormality of the hair|Hair abnormality	http://purl.obolibrary.org/obo/HP_0001595	An abnormality of the hair.	
GO:0016413	O-acetyltransferase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016413	Catalysis of the transfer of an acetyl group to an oxygen atom on the acceptor molecule.	
GO:0016410	N-acyltransferase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016410	Catalysis of the transfer of an acyl group to a nitrogen atom on the acceptor molecule.	
HGNC:11474	SURF1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11474		
MONDO:0010359	Dent disease type 2	biolink:Disease	mondo	UMLS:C1845167|UMLS:C4305529|Orphanet:93623|ICD10:N25.8|OMIM:300555|SCTID:717790004	ordo_clinical_subtype	nephrolithiasis type 2|DENT disease 2|Dent disease type 2|Dent disease caused by mutation in OCRL|OCRL Dent disease	http://purl.obolibrary.org/obo/MONDO_0010359	Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features.	ORPHA:93623|http://identifiers.org/omim/300555|UMLS:C1845167|UMLS:C4305529|SNOMEDCT:717790004
MONDO:0009369	non-immune hydrops fetalis	biolink:Disease	mondo	OMIM:236750|ICD10:P56.9|Orphanet:363999|EFO:0009051|NCIT:C111905|ICD9:778.0|SCTID:276509008|UMLS:C0455988|ICD10:P83.2	ordo_clinical_subtype	hydrops fetalis, nonimmune; NIHF|non-immune fetal edema|non-immune HF|hydrops fetalis, nonimmune|NIHF|non-immune fetal hydrops|Hemoglobin H hydrops fetalis syndrome|hydrops fetalis, Alpha-thalassemia-related	http://purl.obolibrary.org/obo/MONDO_0009369	Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders.	NCIT:C111905|SNOMEDCT:276509008|ORPHA:363999|http://identifiers.org/omim/236750|UMLS:C0455988
MONDO:0009368	urofacial syndrome type 1	biolink:Disease	mondo	OMIM:236730		urofacial syndrome 1|hydronephrosis with peculiar Facial expression|Ochoa syndrome|urofacial syndrome 1; UFS1|inverted smile and occult neuropathic bladder|facial palsy, partial, with urinary abnormalities|urofacial syndrome|UFS1|urofacial syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0009368		http://identifiers.org/omim/236730
MONDO:0009367	McKusick-Kaufman syndrome	biolink:Disease	mondo	GARD:0003427|Orphanet:2473|MESH:C538159|ICD10:Q87.8|UMLS:C0948368|ICD9:758.89|MedDRA:10052312|OMIM:236700|DOID:0111255|SCTID:702407009	ordo_malformation_syndrome|gard_rare	HMCS|MKKS|McKusick-Kaufman syndrome|hydrometrocolpos, postaxial polydactyly, and congenital heart malformation|Kaufman-Mckusick syndrome|MCKUSICK-Kaufman syndrome; MKKS|Kaufman McKusick syndrome|hydrometrocolpos-postaxial polydactyly syndrome|hydrometrocolpos syndrome|McKusick Kaufman syndrome	http://purl.obolibrary.org/obo/MONDO_0009367	McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.	UMLS:C0948368|ORPHA:2473|MEDDRA:10052312|DOID:0111255|http://identifiers.org/omim/236700|SNOMEDCT:702407009|MESH:C538159
OBO:mondo#disease_causes_feature	disease causes feature	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/mondo#disease_causes_feature		
MONDO:0009366	normal pressure hydrocephalus	biolink:Disease	mondo	MedDRA:10029773|COHD:432899|DOID:1572|EFO:1001065|OMIM:236690|UMLS:C0020258|ICD9:331.5|ICD10:G91.2|Orphanet:314928|SCTID:30753002|MESH:D006850	ordo_disease	low pressure hydrocephalus|hydrocephalus, normal-pressure|NPH|chronic adult hydrocephalus	http://purl.obolibrary.org/obo/MONDO_0009366	A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see gait disorders, neurologic), progressive intellectual decline, and urinary incontinence. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of csf including subarachnoid hemorrhage, chronic meningitis, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)	MEDDRA:10029773|ORPHA:314928|DOID:1572|MESH:D006850|http://identifiers.org/omim/236690|UMLS:C0020258|SNOMEDCT:30753002
MONDO:0009365	hydrolethalus syndrome 1	biolink:Disease	mondo	OMIM:236680|UMLS:C1856016|DOID:0111355|MESH:C565504		hydrolethalus syndrome 1; HLS1|HYLS1 hydrolethalus syndrome|hydrolethalus syndrome caused by mutation in HYLS1|hydrolethalus syndrome 1|HLS1|hydrolethalus syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0009365	Any hydrolethalus syndrome in which the cause of the disease is a mutation in the HYLS1 gene.	UMLS:C1856016|DOID:0111355|MESH:C565504|http://identifiers.org/omim/236680
MONDO:0009364	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	biolink:Disease	mondo	UMLS:CN033898|OMIM:236670|DOID:0111237|UMLS:C4284790|NCIT:C128118		hard syndrome|Walker-Warburg syndrome or muscle-eye-brain disease, Pomt1-related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1|cod-MD syndrome|MDDGA1|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1|cerebroocular dysplasia-muscular dystrophy syndrome|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; MDDGA1|hydrocephalus, agyria, and retinal dysplasia	http://purl.obolibrary.org/obo/MONDO_0009364	An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death.	UMLS:CN033898|NCIT:C128118|DOID:0111237|UMLS:C4284790|http://identifiers.org/omim/236670
MONDO:0010363	intellectual disability, X-linked 91	biolink:Disease	mondo	MESH:C564482|UMLS:C1845142|OMIM:300577		ZDHHC15 non-syndromic X-linked intellectual disability|mental retardation, X-linked 91|intellectual disability, X-linked type 91|intellectual disability, X-linked 91|mental retardation, X-linked type 91|MRX91|non-syndromic X-linked intellectual disability caused by mutation in ZDHHC15|intellectual disability, X-linked 91; MRX91|mental retardation, X-linked 91; MRX91	http://purl.obolibrary.org/obo/MONDO_0010363	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZDHHC15 gene.	http://identifiers.org/omim/300577|UMLS:C1845142|MESH:C564482
MONDO:0009363	hydrocephaly-tall stature-joint laxity syndrome	biolink:Disease	mondo	OMIM:236660|SCTID:732926009|Orphanet:2181|UMLS:C1856051|GARD:0001666|MESH:C535770|ICD10:Q87.8	ordo_malformation_syndrome	Daish-Hardman-Lamont syndrome|Daish Hardman Lamont syndrome|hydrocephaly - tall stature - joint laxity|hydrocephalus, tall stature, JOINT laxity, and kyphoscoliosis|hydrocephalus, tall stature, joint laxity and kyphoscoliosis	http://purl.obolibrary.org/obo/MONDO_0009363	Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989.	UMLS:C1856051|SNOMEDCT:732926009|MESH:C535770|http://identifiers.org/omim/236660|ORPHA:2181
HGNC:11566	TAPBP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11566		
MONDO:0010362	glycogen storage disease IXd	biolink:Disease	mondo	Orphanet:715|GARD:0003858|OMIM:300559|DOID:0111040|ICD10:E74.0|MESH:C564485	gard_rare|ordo_disease	GSD due to muscle phosphorylase kinase deficiency|glycogenosis type IXd|GSD type 9D|glycogenosis type 9D|glycogen storage disease due to muscle phosphorylase kinase deficiency|glycogen storage disease type 9D|GSD type 9E|GSD type IXd|GSD IXd|GSD Vb|glycogen storage disease type IXe|glycogen storage disease type 9E|GSD type IXe|GSD9D|muscle phosphorylase kinase deficiency|PHKA1-related glycogen storage disease type IX|PHKA1 glycogen storage disease|glycogen storage disease, type IXd; GSD9D|glycogen storage disease, type IXd|muscular phosphorylase kinase deficiency|glycogen storage disease caused by mutation in PHKA1|glycogenosis due to muscle phosphorylase kinase deficiency|glycogenosis type IXe|X-linked muscke glycogenosis|glycogen storage disease type IXd|glycogenosis type 9E|muscle glycogenosis, X-linked	http://purl.obolibrary.org/obo/MONDO_0010362	A benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness.	http://identifiers.org/omim/300559|DOID:0111040|ORPHA:715|MESH:C564485
MONDO:0009362	growth delay-hydrocephaly-lung hypoplasia syndrome	biolink:Disease	mondo	ICD10:Q87.8|GARD:0002427|UMLS:C1856052|Orphanet:3035|OMIM:236640|MESH:C535406|SCTID:716198008	ordo_malformation_syndrome	retarded growth, hydrocephalus, micrognathia, intestinal malrotation, omphalocele, short lower limbs and foot deformities|game Friedman Paradice syndrome|game-Friedman-Paradice syndrome|hydrocephalus with associated malformations	http://purl.obolibrary.org/obo/MONDO_0009362	Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities.	MESH:C535406|http://identifiers.org/omim/236640|ORPHA:3035|SNOMEDCT:716198008|UMLS:C1856052
MONDO:0010365	CFTDX	biolink:Disease	mondo	OMIM:300580|DOID:0111226|MESH:C567594|UMLS:C2749128		myopathy, congenital, with fiber-type disproportion, X-linked; CFTDX|myopathy, congenital, with fiber-type disproportion, X-linked|CFTDX	http://purl.obolibrary.org/obo/MONDO_0010365		http://identifiers.org/omim/300580|MESH:C567594|UMLS:C2749128|DOID:0111226
MONDO:0009361	autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius	biolink:Disease	mondo	OMIM:236635|UMLS:CN074258		aqueductal stenosis|hydrocephalus due to congenital stenosis of aqueduct of Sylvius	http://purl.obolibrary.org/obo/MONDO_0009361		http://identifiers.org/omim/236635|UMLS:CN074258
MONDO:0010364	X-linked intellectual disability-retinitis pigmentosa syndrome	biolink:Disease	mondo	OMIM:300578|ICD10:H35.5|UMLS:C0795873|Orphanet:85332|GARD:0008360|SCTID:719808002	ordo_disease	retinitis pigmentosa and intellectual disability due to del(X)(p11.3)|chromosome Xp11.3 deletion syndrome|Aldred syndrome|nonspecific mental retardation associated with retinitis pigmentosa|mental retardation, X-linked, with retinitis pigmentosa|nonspecific intellectual disability associated with retinitis pigmentosa|retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion|X-linked mental handicap-retinitis pigmentosa syndrome|retinitis pigmentosa and intellectual disability due to monosomy Xp11.3|intellectual disability, X-linked, with retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0010364	X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.	http://identifiers.org/omim/300578|SNOMEDCT:719808002|ORPHA:85332|UMLS:C0795873
MONDO:0009360	hydrocephalus, nonsyndromic, autosomal recessive 1	biolink:Disease	mondo	UMLS:C3887608|GARD:0006682|OMIM:236600		CCDC88C congenital hydrocephalus|hydrocephalus, nonsyndromic, autosomal recessive 1; HYC1|HYC1|hydrocephaly|hydrocephalus, nonsyndromic, autosomal recessive 1|ventriculomegaly|congenital hydrocephalus caused by mutation in CCDC88C|hydrocephalus, nonsyndromic, autosomal recessive type 1	http://purl.obolibrary.org/obo/MONDO_0009360	Any congenital hydrocephalus in which the cause of the disease is a mutation in the CCDC88C gene.	UMLS:C3887608|http://identifiers.org/omim/236600
MONDO:0010367	SHOX-related short stature	biolink:Disease	mondo	ICD10:Q87.1|Orphanet:314795|OMIM:300582|MESH:C564479|EFO:0008989|SCTID:763868006	ordo_disease	short stature, idiopathic, X-linked|short stature, idiopathic, X-linked; ISS|ISS	http://purl.obolibrary.org/obo/MONDO_0010367	SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never.	MESH:C564479|ORPHA:314795|SNOMEDCT:763868006|http://identifiers.org/omim/300582
MONDO:0010366	FG syndrome 5	biolink:Disease	mondo	OMIM:300581|UMLS:C1845119|MESH:C564480		FGS5|FG syndrome 5; FGS5|FG syndrome 5	http://purl.obolibrary.org/obo/MONDO_0010366		MESH:C564480|http://identifiers.org/omim/300581|UMLS:C1845119
MONDO:0010369	NYS5	biolink:Disease	mondo	OMIM:300589|UMLS:C1845116		NYS5|NYSTAGMUS 5, congenital, X-linked; NYS5|NYSTAGMUS 5, congenital, X-linked	http://purl.obolibrary.org/obo/MONDO_0010369		UMLS:C1845116|http://identifiers.org/omim/300589
MONDO:0010368	immunodeficiency without anhidrotic ectodermal dysplasia	biolink:Disease	mondo	MESH:C536289|UMLS:C1845117|GARD:0009917|OMIM:300584	gard_rare	immunodeficiency, isolated|immunodeficiency, Pure|immunodeficiency without anhidrotic ectodermal dysplasia	http://purl.obolibrary.org/obo/MONDO_0010368		http://identifiers.org/omim/300584|UMLS:C1845117|MESH:C536289
MONDO:0022338	ALK+ histiocytosis	biolink:Disease	mondo	GARD:0010577	gard_rare	anaplastic lymphoma kinase positive histiocytosis	http://purl.obolibrary.org/obo/MONDO_0022338		
MONDO:0036990	benign Leydig cell tumor	biolink:Disease	mondo	ICDO:8650/0|UMLS:C0334409|NCIT:C4212		Leydig cell tumor, benign|benign interstitial cell neoplasm|benign interstitial cell tumor|adenoma, interstitial|benign Leydig cell tumor|benign Leydig cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0036990	A Leydig cell tumor which does not recur or metastasize. Morphologically, there is no evidence of cellular atypia, increased mitotic activity, necrosis, or vascular invasion.	NCIT:C4212|UMLS:C0334409
MONDO:0010361	intellectual disability, X-linked 30	biolink:Disease	mondo	OMIM:300558|UMLS:C0796237		mental retardation, X-linked 47|intellectual disability, X-linked type 30|intellectual disability, X-linked 30|intellectual disability, X-linked 47|non-syndromic X-linked intellectual disability caused by mutation in PAK3|mental retardation, X-linked 30|mental retardation, X-linked 30; MRX30|PAK3 non-syndromic X-linked intellectual disability|MRX30|mental retardation, X-linked type 30|intellectual disability, X-linked 30; MRX30	http://purl.obolibrary.org/obo/MONDO_0010361	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the PAK3 gene.	UMLS:C0796237|http://identifiers.org/omim/300558
MONDO:0010360	PARK12	biolink:Disease	mondo	UMLS:C1845165|OMIM:300557|MESH:C564486		Parkinson disease 12; PARK12|Parkinson disease, X-linked|PARK12|Parkinson disease 12	http://purl.obolibrary.org/obo/MONDO_0010360		http://identifiers.org/omim/300557|UMLS:C1845165|MESH:C564486
MONDO:0022330	4-hydroxyphenylacetic aciduria	biolink:Disease	mondo	GARD:0008155|MESH:C535315	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022330		MESH:C535315
MONDO:0022333	5-nucleotidase syndrome	biolink:Disease	mondo	UMLS:C2930876|MESH:C535321|GARD:0008242	gard_rare	5'NT syndrome|5'-Nucleotidase syndrome	http://purl.obolibrary.org/obo/MONDO_0022333		MESH:C535321|UMLS:C2930876
NCBITaxon:41705	Protacanthopterygii	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_41705		
MONDO:0024996	obsolete Usher syndrome, type 2b	biolink:Disease	mondo	GARD:0005441	gard_rare	USH2B|US2B	http://purl.obolibrary.org/obo/MONDO_0024996		
NCBITaxon:111527	pseudomallei group	organism taxon	mondo	GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_111527		
MONDO:0022337	AIDS dysmorphic syndrome	biolink:Disease	mondo	GARD:0005765	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022337		
MONDO:0010349	ovarian dysgenesis 2	biolink:Disease	mondo	MESH:C564499|DOID:0080494|UMLS:C1845294|OMIM:300510		ovarian dysgenesis 2|ovarian dysgenesis, hypergonadotropic, X-linked|BMP15 primary ovarian failure|ovarian dysgenesis type 2|primary ovarian failure caused by mutation in BMP15|premature ovarian failure 4|ODG2|ovarian dysgenesis 2; ODG2|ovarian failure, hypergonadotropic, due to ovarian dysgenesis	http://purl.obolibrary.org/obo/MONDO_0010349	Any primary ovarian failure in which the cause of the disease is a mutation in the BMP15 gene.	DOID:0080494|MESH:C564499|http://identifiers.org/omim/300510|UMLS:C1845294
MONDO:0010348	dyslexia, susceptibility to, 9	biolink:Disease	mondo	OMIM:300509	predisposition	DYX9|dyslexia, susceptibility to, 9|dyslexia, susceptibility to, 9; DYX9	http://purl.obolibrary.org/obo/MONDO_0010348		http://identifiers.org/omim/300509
MONDO:0009379	Rotor syndrome	biolink:Disease	mondo	MedDRA:10039234|OMIM:237450|UMLS:C0220991|ICD10:E80.6|Orphanet:3111|GARD:0000218|SCTID:32891000	gard_rare|ordo_disease	hyperbilirubinemia, ROTOR type; HBLRR|hyperbilirubinemia, ROTOR type|hyperbilirubinemia, Rotor type|Rotor-type hyperbilirubinemia|Rotor syndrome|HBLRR	http://purl.obolibrary.org/obo/MONDO_0009379	Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology.	http://identifiers.org/omim/237450|MEDDRA:10039234|UMLS:C0220991|ORPHA:3111|SNOMEDCT:32891000
MONDO:0009378	hyper-beta-alaninemia	biolink:Disease	mondo	UMLS:C0268630|MESH:C562684|Orphanet:309147|GARD:0010267|ICD10:E79.8|SCTID:2359002|OMIM:237400|ICD9:270.8	ordo_disease|gard_rare	hyperbetaalaninemia|hyperalaninemia|hyper-beta-alaninemia	http://purl.obolibrary.org/obo/MONDO_0009378	Hyperbetaalaninemia is a very rare metabolic condition.Hyperbetaalaninemia refers to thebuild-upof protein building blocks, called beta amino acids, in the body. The excess beta amino acidsare neurotoxic to the body. Signs and symptoms of hyperbetaalaninemia includeconvulsions (rapid and uncontrollable shaking), lethargy, and encephalopathy.Hyperbetaalaninemia is thought to be due to a loss ofa functional form of the enzyme,beta-alanine-alpha-ketoglutarate transaminase.Treatment with oral pyridoxine wasdemonstrated to be helpful in one case.	ORPHA:309147|http://identifiers.org/omim/237400|MESH:C562684|UMLS:C0268630|SNOMEDCT:2359002
MONDO:0009377	hyperammonemia due to N-acetylglutamate synthase deficiency	biolink:Disease	mondo	MESH:C536109|OMIM:237310|Orphanet:927|ICD10:E72.2|SCTID:57119000|NCIT:C129307|GARD:0007158	ordo_disease	NAGS deficiency|hyperammonemia due to N-acetylglutamate synthetase deficiency|NAGSD|N-acetylglutamate synthetase deficiency|N-acetylglutamate synthase deficiency; NAGSD|N-acetylglutamate synthase deficiency|N-acetyl glutamate synthetase deficiency|NAG synthetase deficiency|Nags deficiency	http://purl.obolibrary.org/obo/MONDO_0009377	N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia.	NCIT:C129307|MESH:C536109|ORPHA:927|http://identifiers.org/omim/237310|SNOMEDCT:57119000
MONDO:0009376	carbamoyl phosphate synthetase I deficiency disease	biolink:Disease	mondo	EFO:0007193|NCIT:C84612|MedDRA:10058297|MESH:D020165|ICD10:E72.2|DOID:9280|GARD:0007269|Orphanet:147|SCTID:62522004|OMIM:237300	ordo_disease	carbamoyl-phosphate synthetase I deficiency|carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to|CPS1 deficiency|carbamoyl phosphate synthetase 1 deficiency|carbamoyl-phosphate synthase|carbamyl phosphate synthetase (CPS) deficiency|carbamoyl-phosphate synthetase deficiency|CPS 1 deficiency|carbamoyl phosphate synthetase I deficiency, hyperammonemia due to|carbamoyl phosphate synthetase deficiency|CPS I deficiency|hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency|carbamoyl-phosphate synthetase 1 deficiency|deficiency disease|CPS1D	http://purl.obolibrary.org/obo/MONDO_0009376	Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.	ORPHA:147|SNOMEDCT:62522004|MEDDRA:10058297|http://identifiers.org/omim/237300|DOID:9280|MESH:D020165|NCIT:C84612
NCBITaxon:111520	Penaeoidea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_111520		
MONDO:0009375	hymen, imperforate	biolink:Disease	mondo	MESH:C562397|OMIM:237100|ICD10:Q52.3|SCTID:65937002|COHD:193587|ICD9:752.42		hymen, imperforate	http://purl.obolibrary.org/obo/MONDO_0009375		http://identifiers.org/omim/237100|MESH:C562397|SNOMEDCT:65937002
MONDO:0024990	swine disease	biolink:Disease	mondo	MESH:D013553|UMLS:C0039006		diseases, swine|swine disease|disease, swine	http://purl.obolibrary.org/obo/MONDO_0024990	Diseases of domestic swine and of the wild boar of the genus Sus.	UMLS:C0039006|MESH:D013553
MONDO:0009374	hydroxyprolinemia (disease)	biolink:Disease	mondo	HP:0003260|OMIM:237000|UMLS:C0268531|GARD:0010717|MESH:C562669|ICD9:270.8|SCTID:25739007	mostly_harmless	4 alpha hydroxy-L-proline oxidase deficiency|Hydroxyprolinemia|HYDROXYPROLINEMIA|4-hydroxy-L-proline oxidase deficiency	http://purl.obolibrary.org/obo/MONDO_0009374		http://identifiers.org/omim/237000|SNOMEDCT:25739007|MESH:C562669|UMLS:C0268531
HGNC:11577	TAZ	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11577		
MONDO:0010352	MRX82	biolink:Disease	mondo	OMIM:300518|UMLS:C1845286|MESH:C564496		intellectual disability, X-linked 82; MRX82|mental retardation, X-linked 82; MRX82|MRX82|intellectual disability, X-linked 82|mental retardation, X-linked 82	http://purl.obolibrary.org/obo/MONDO_0010352		MESH:C564496|http://identifiers.org/omim/300518|UMLS:C1845286
MONDO:0009373	seizures-intellectual disability due to hydroxylysinuria syndrome	biolink:Disease	mondo	ICD10:E72.3|Orphanet:79156|OMIM:236900|MESH:C565502|UMLS:C1855986	ordo_disease	hydroxylysinuria	http://purl.obolibrary.org/obo/MONDO_0009373	Seizures-intellectual disability due to hydroxylysinuria syndrome is characterised by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient.	MESH:C565502|ORPHA:79156|UMLS:C1855986|http://identifiers.org/omim/236900
MONDO:0010351	Fanconi anemia complementation group b	biolink:Disease	mondo	NCIT:C125703|UMLS:C1845292|DOID:0111098|OMIM:300514|MESH:C564497		Fanconi pancytopenia type 2|facb|FA2|Fanconi pancytopenia, type 2|Fanconi anemia complementation group type B|FANCB|Fanconi anemia, complementation group B; FANCB|Fanconi anemia, complementation group B|FACB|Fanconi Anemia, complementation group type B	http://purl.obolibrary.org/obo/MONDO_0010351	Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B.	NCIT:C125703|http://identifiers.org/omim/300514|UMLS:C1845292|DOID:0111098|MESH:C564497
MONDO:0010354	Allan-Herndon-Dudley syndrome	biolink:Disease	mondo	OMIM:300523|ICD10:E03.1|ICD10:G31.8|SCTID:702327009|Orphanet:59|GARD:0005617|NCIT:C118843|UMLS:C0795889|MESH:C537047|DOID:0050631	gard_rare|ordo_clinical_subtype	T3 resistance|X-linked intellectual disability with hypotonia|MCT8 deficiency|Allan-Herndon syndrome|monocarboxylate transporter-8 deficiency|mental retardation, X-linked, with hypotonia|MCT8-specific thyroid hormone cell Membrane transporter deficiency|intellectual disability, X-linked, with hypotonia|monocarboxylate transporter 8 deficiency|X-linked intellectual disability-hypotonia syndrome|triiodothyronine resistance|ALLAN-Herndon syndrome|intellectual disability and muscular atrophy|Allan-Herndon-Dudley syndrome|T3 resisitence|mental retardation and muscular atrophy|AHDS|triiodothyronine resistence|ALLAN-Herndon-DUDLEY syndrome; AHDS	http://purl.obolibrary.org/obo/MONDO_0010354	Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.	ORPHA:59|http://identifiers.org/omim/300523|SNOMEDCT:702327009|NCIT:C118843|MESH:C537047|UMLS:C0795889|DOID:0050631
MONDO:0009372	encephalopathy due to hydroxykynureninuria	biolink:Disease	mondo	ICD9:270.2|GARD:0010039|UMLS:C0268474|Orphanet:79155|SCTID:72945002|OMIM:236800|ICD10:E70.8|MESH:C536081	ordo_disease	kynureninase deficiency, partial|kynureninase deficiency|Xanthurenic aciduria|hydroxykynureninuria	http://purl.obolibrary.org/obo/MONDO_0009372	Encephalopathy due to hydroxykynureninuria is characterised by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway.	ORPHA:79155|SNOMEDCT:72945002|http://identifiers.org/omim/236800|UMLS:C0268474|MESH:C536081
MONDO:0010353	deafness-intellectual disability, Martin-Probst type syndrome	biolink:Disease	mondo	MESH:C564495|Orphanet:85321|OMIM:300519|ICD10:Q87.8|DOID:0060830|SCTID:721087008	ordo_malformation_syndrome	intellectual disability, X-linked, syndromic, Martin-Probst type|mental retardation, X-linked, syndromic, MARTIN-Probst type|Martin-Probst syndrome|Martin-Probst deafness-intellectual disability syndrome|intellectual disability, X-linked, syndromic, MARTIN-Probst type|Martin-Probst deafness-mental retardation syndrome|MRXSMP|deafness-intellectual disability syndrome, Martin-Probst type|mental retardation, X-linked, syndromic, Martin-Probst type|intellectual disability, X-linked, syndromic, MARTIN-Probst type; MRXSMP|mental retardation, X-linked, syndromic, MARTIN-Probst type; MRXSMP|X-linked deafness-intellectual disability syndrome syndrome	http://purl.obolibrary.org/obo/MONDO_0010353	Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.	MESH:C564495|DOID:0060830|http://identifiers.org/omim/300519|SNOMEDCT:721087008|ORPHA:85321
MONDO:0009371	3-hydroxyisobutyric aciduria	biolink:Disease	mondo	Orphanet:939|ICD10:E71.1|GARD:0005662|ICD9:791.9|OMIM:236795|SCTID:237957007|MESH:C535312|UMLS:C0342737	ordo_disease|gard_rare	disorder of valine metabolism|3-hydroxyisobutyric aciduria	http://purl.obolibrary.org/obo/MONDO_0009371	3 hydroxyisobutyric aciduria is characterised by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive.	MESH:C535312|ORPHA:939|UMLS:C0342737|SNOMEDCT:237957007|http://identifiers.org/omim/236795
MONDO:0009370	L-2-hydroxyglutaric aciduria	biolink:Disease	mondo	DOID:0050574|GARD:0010472|Orphanet:79314|UMLS:C3888081|SCTID:237961001|UMLS:C1855995|OMIM:236792|ICD10:E72.8	ordo_disease|gard_rare	L-2-HGA|L-2-hydroxyglutaric aciduria|L-2-hydroxyglutaric aciduria; L2HGA|L2HGA|L-2-hydroxyglutaric acidemia	http://purl.obolibrary.org/obo/MONDO_0009370	L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.	DOID:0050574|ORPHA:79314|UMLS:C1855995|SNOMEDCT:237961001|http://identifiers.org/omim/236792|UMLS:C3888081
MONDO:0010356	nephrogenic syndrome of inappropriate antidiuresis	biolink:Disease	mondo	UMLS:C1845202|OMIM:300539|Orphanet:93606|MESH:C564491|SCTID:723440000|ICD10:E22.2	ordo_disease	nephrogenic syndrome of inappropriate antidiuresis; NSIAD|NSIAD|nephrogenic syndrome of inappropriate antidiuresis	http://purl.obolibrary.org/obo/MONDO_0010356	Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels.	SNOMEDCT:723440000|MESH:C564491|ORPHA:93606|http://identifiers.org/omim/300539|UMLS:C1845202
MONDO:0010355	syndromic X-linked intellectual disability Claes-Jensen type	biolink:Disease	mondo	DOID:0060809|ICD10:Q87.8|MESH:C564494|UMLS:C4304915|SCTID:719161008|OMIM:300534|Orphanet:85279|UMLS:C1845243	ordo_malformation_syndrome	mental retardation, X-linked, syndromic, Claes-Jensen type; MRXSCJ|mental retardation, X-linked, syndromic, JARID1C-related|intellectual disability, X-linked, syndromic, Claes-Jensen type; MRXSCJ|intellectual disability, X-linked, syndromic, JARID1C-related|mental retardation, X-linked, syndromic, Claes-Jensen type|MRXSJ|intellectual disability, X-linked, syndromic, Claes-Jensen type|syndromic X-linked intellectual disability due to JARID1C mutation|syndromic X-linked mental retardation JARID1C-related|MRXSCJ|syndromic X-linked intellectual disability JARID1C-related	http://purl.obolibrary.org/obo/MONDO_0010355		UMLS:C4304915|MESH:C564494|DOID:0060809|SNOMEDCT:719161008|http://identifiers.org/omim/300534|UMLS:C1845243|ORPHA:85279
MONDO:0010358	hypophosphatemic rickets, X-linked recessive	biolink:Disease	mondo	DOID:0080353|OMIM:300554		hypophosphatemic rickets, X-linked recessive|X-linked hypophosphatemic rickets caused by mutation in CLCN5|CLCN5 X-linked hypophosphatemic rickets	http://purl.obolibrary.org/obo/MONDO_0010358	Any X-linked hypophosphatemic rickets in which the cause of the disease is a mutation in the CLCN5 gene.	http://identifiers.org/omim/300554|DOID:0080353
MONDO:0010357	obsolete MRX78	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0010357		
HGNC:11573	TAT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11573		
MONDO:0010350	premature ovarian failure 2A	biolink:Disease	mondo	UMLS:C1845293|OMIM:300511|MESH:C564498		primary ovarian failure caused by mutation in DIAPH2|premature ovarian failure 2A; POF2A|premature ovarian failure type 2A|DIAPH2 primary ovarian failure|POF2A|premature ovarian failure 2A	http://purl.obolibrary.org/obo/MONDO_0010350	Any primary ovarian failure in which the cause of the disease is a mutation in the DIAPH2 gene.	http://identifiers.org/omim/300511|UMLS:C1845293|MESH:C564498
HGNC:11571	TARDBP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11571		
MONDO:0024982	salmonella infections, animal	biolink:Disease	mondo	MESH:D012481|UMLS:C0036118		animal Salmonella infections|animal Salmonella infection|Salmonella infection, animal|infections, animal Salmonella|infection, animal Salmonella	http://purl.obolibrary.org/obo/MONDO_0024982	Infections in animals with bacteria of the genus salmonella.	UMLS:C0036118|MESH:D012481
MONDO:0024981	rodent disease	biolink:Disease	mondo	UMLS:C0035801|MESH:D012376		rodent disease|disease, Rodent|diseases, Rodent	http://purl.obolibrary.org/obo/MONDO_0024981	Diseases of rodents of the order rodentia. This term includes diseases of Sciuridae (squirrels), Geomyidae (gophers), Heteromyidae (pouched mice), Castoridae (beavers), Cricetidae (rats and mice), Muridae (Old World rats and mice), Erethizontidae (porcupines), and Caviidae (guinea pigs).	UMLS:C0035801|MESH:D012376
MONDO:0022321	2-methylacetoacetyl CoA thiolase deficiency	biolink:Disease	mondo	UMLS:C2930874|MESH:C535307|GARD:0008382	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022321		MESH:C535307|UMLS:C2930874
MONDO:0022323	2-hydroxyethyl methacrylate sensitization	biolink:Disease	mondo	MESH:C535305|GARD:0008635|UMLS:C2930873	gard_rare	sensitization to 2-hydroxyethyl methacrylate|2-HEMA sensitization	http://purl.obolibrary.org/obo/MONDO_0022323		MESH:C535305|UMLS:C2930873
MONDO:0024985	sheep disease	biolink:Disease	mondo	UMLS:C0036946|MESH:D012757		diseases, sheep|Ovine diseases|diseases, Ovine|sheep disease|disease, sheep|disease, Ovine|Ovine disease	http://purl.obolibrary.org/obo/MONDO_0024985	Diseases of domestic and mountain sheep of the genus Ovis.	MESH:D012757|UMLS:C0036946
MONDO:0024988	sex cord-stromal benign neoplasm	biolink:Disease	mondo	DOID:0080368			http://purl.obolibrary.org/obo/MONDO_0024988	A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts.	DOID:0080368
MONDO:0022326		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0022326		
MONDO:0010338	X-linked distal spinal muscular atrophy type 3	biolink:Disease	mondo	DOID:0111196|Orphanet:139557|ICD10:G12.2|SCTID:766764008|OMIM:300489|MESH:C564506|UMLS:C1845359	ordo_disease	spinal muscular atrophy caused by mutation in ATP7A|spinal muscular atrophy, distal, X-linked 3; SMAX3|DSMAX|spinal muscular atrophy, distal, X-linked recessive|X-linked distal hereditary motor neuropathy type 3|spinal muscular atrophy, distal, X-linked type 3|X-linked dSMA3|spinal muscular atrophy, distal, X-linked 3|X-linked dHMN3|SMAX3|Dsmax|ATP7A-related distal motor neuropathy|X-linked dSMA type 3|ATP7A spinal muscular atrophy|X-linked dHMN type 3	http://purl.obolibrary.org/obo/MONDO_0010338	X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.	SNOMEDCT:766764008|DOID:0111196|MESH:C564506|ORPHA:139557|http://identifiers.org/omim/300489|UMLS:C1845359
MONDO:0009349	holoprosencephaly 1	biolink:Disease	mondo	ICD10:Q04.1|DOID:0110881|NCIT:C75476|Orphanet:268936|OMIM:236100	ordo_morphological_anomaly	isolated arhinencephaly|arhinencephaly|holoprosencephaly 1|Hpe, familial|HPE1|Demyer sequence|holoprosencephaly 1; HPE1|holoprosencephaly type 1|cyclopia|holoprosencephaly, familial Alobar	http://purl.obolibrary.org/obo/MONDO_0009349	The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22.	ORPHA:268936|NCIT:C75476|http://identifiers.org/omim/236100|DOID:0110881
MONDO:0010337	X-linked intellectual disability-cerebellar hypoplasia syndrome	biolink:Disease	mondo	DOID:0080311|GARD:0009947|SCTID:719136005|ICD10:Q04.3|MESH:C537456|GARD:0013093|OMIM:300486|Orphanet:137831	gard_rare|ordo_disease	intellectual disability x-linked 60 (formerly)|OPHN1 XLMR|OPHN1 deficiency|intellectual disability, X-linked 60|mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance|OPHN1 XLMR, X-linked intellectual disability|MRX60 (formerly)|mental retardation, X-linked 60, formerly|mental retardation, X-linked 60|mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance|X-linked intellectual Deficit with cerebellar Hypoplasia|intellectual disability, X-linked, with cerebellar hypoplasia and distinctive facial appearance|mental retardation x-linked 60 (formerly)|Oligophrenin-1 syndrome|OPHN1 syndrome|intellectual disability x-linked with cerebellar hypoplasia and distinctive facial appearance|OPHN1- related XLID|intellectual disability, X-linked 60, formerly	http://purl.obolibrary.org/obo/MONDO_0010337	X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.	ORPHA:137831|DOID:0080311|MESH:C537456|SNOMEDCT:719136005|http://identifiers.org/omim/300486
MONDO:0009348	classic Hodgkin lymphoma	biolink:Disease	mondo	ICD10:C81.9|ICD10:C81.7|ICD10:C81.4|ICD10:C81.3|ONCOTREE:CHL|OMIM:236000|ICD10:C81.2|UMLS:CN204952|ICD10:C81.1|Orphanet:391|ICD10:C81.0|NCIT:C7164	ordo_disease	lymphoma, Hodgkin, classic; Chl|classic Hodgkin disease|classical Hodgkin's lymphoma|Hodgkin disease|lymphoma, Hodgkin, classic|Chl|classical Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0009348	Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells.	UMLS:CN204952|ORPHA:391|NCIT:C7164|http://identifiers.org/omim/236000
MONDO:0009347	familial lipochrome histiocytosis	biolink:Disease	mondo	OMIM:235900|SCTID:234577004|UMLS:C0334125|MESH:C562738		histiocytosis, familial lipochrome	http://purl.obolibrary.org/obo/MONDO_0009347		MESH:C562738|UMLS:C0334125|http://identifiers.org/omim/235900|SNOMEDCT:234577004
MONDO:0012999	guanidinoacetate methyltransferase deficiency	biolink:Disease	mondo	DOID:0050799|MESH:C537622|GARD:0002578|OMIM:612736|SCTID:124239003|ICD9:277.6|Orphanet:382|ICD10:E72.8|UMLS:C0574080	ordo_disease|gard_rare	creatine deficiency syndrome due to GAMT deficiency|CCDS2|cerebral creatine deficiency syndrome 2; CCDS2|guanidinoacetate methyltransferase deficiency|GAMT deficiency|disorder of guanidinoacetate N-methyltransferase activity|disorder of guanidinoacetate N-methyltransferase activity|cerebral creatine deficiency syndrome 2|cerebral creatine deficiency syndrome type 2|guanidinoacetate N-methyltransferase activity disease	http://purl.obolibrary.org/obo/MONDO_0012999	Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.	MESH:C537622|http://identifiers.org/omim/612736|ORPHA:382|DOID:0050799|UMLS:C0574080|SNOMEDCT:124239003
MONDO:0010339	X-linked epilepsy-learning disabilities-behavior disorders syndrome	biolink:Disease	mondo	OMIM:300491|UMLS:C1845343|MESH:C564505|Orphanet:85294|ICD10:Q87.8	ordo_disease	epilepsy, X-linked, with variable learning disabilities and behavior disorders	http://purl.obolibrary.org/obo/MONDO_0010339	X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).	UMLS:C1845343|ORPHA:85294|MESH:C564505|http://identifiers.org/omim/300491
MONDO:0009346	histidinuria due to a renal tubular defect	biolink:Disease	mondo	Orphanet:2158|MESH:C538321|UMLS:C0268642|OMIM:235830|ICD10:E70.8|GARD:0002708	ordo_disease	histidinuria-renal tubular defect syndrome|histidinuria due to a renal tubular defect	http://purl.obolibrary.org/obo/MONDO_0009346		UMLS:C0268642|http://identifiers.org/omim/235830|ORPHA:2158|MESH:C538321
HGNC:11538	TAF4B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11538		
MONDO:0009345	histidinemia	biolink:Disease	mondo	GARD:0006661|SCTID:410058007|UMLS:C0220992|Orphanet:2157|DOID:0060168|MESH:C538320|OMIM:235800|ICD10:E70.8|ICD10:E70.41	ordo_disease|mostly_harmless|gard_rare	histidase deficiency|HIS deficiency|Histidinuria|Hal deficiency|histidinuria|hyperhistidinemia|histidine ammonia-lyase deficiency|histidinemia	http://purl.obolibrary.org/obo/MONDO_0009345	Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.	http://identifiers.org/omim/235800|ORPHA:2157|SNOMEDCT:410058007|MESH:C538320|DOID:0060168|UMLS:C0220992
MONDO:0009344	Hirschsprung disease-nail hypoplasia-dysmorphism syndrome	biolink:Disease	mondo	Orphanet:2153|OMIM:235760|SCTID:721223002|MESH:C535615|ICD10:Q43.1|GARD:0000584	ordo_malformation_syndrome	Hirschsprung disease with hypoplastic nails and dysmorphic facial features|Al-Gazali-Donnai-Mueller syndrome|Al Gazali-Donnai-Muller syndrome|Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features	http://purl.obolibrary.org/obo/MONDO_0009344	Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions of Hirschsprung disease - nail hypoplasia - dysmorphism syndrome in the literature since 1988.	http://identifiers.org/omim/235760|ORPHA:2153|MESH:C535615|SNOMEDCT:721223002
MONDO:0009343	Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect	biolink:Disease	mondo	MESH:C538120|OMIM:235750|UMLS:C1856111|GARD:0002696|MESH:C565517	gard_rare	Hirschsprung disease polydactyly heart disease|Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect	http://purl.obolibrary.org/obo/MONDO_0009343		http://identifiers.org/omim/235750|MESH:C538120|UMLS:C1856111|MESH:C565517
MONDO:0009342	Hirschsprung disease-deafness-polydactyly syndrome	biolink:Disease	mondo	Orphanet:2155|SCTID:721221000|GARD:0000157|ICD10:Q43.1|MESH:C565518|OMIM:235740	ordo_malformation_syndrome	Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness|Santos Mateus Leal syndrome|Hirschsprung disease with polydactyly, renal agenesis, and deafness|Hirschsprung disease, deafness and polydactyly|Santos-Mateus-Leal syndrome	http://purl.obolibrary.org/obo/MONDO_0009342	Hirschsprung disease-deafness-polydactyly is an extremely rare malformative association, described in only two siblings to date, and characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988.	http://identifiers.org/omim/235740|ORPHA:2155|MESH:C565518|UMLS:C2931452|SNOMEDCT:721221000
MONDO:0009341	Mowat-Wilson syndrome	biolink:Disease	mondo	SCTID:703535000|GARD:0009673|Orphanet:2152|UMLS:C1856113|NCIT:C74999|DOID:0060485|MESH:C536990|ICD10:Q43.1|ICD9:759.89|OMIM:235730	ordo_malformation_syndrome|gard_rare	microcephaly, mental retardation, and distinct Facial features, with or without Hirschsprung disease|Hirschsprung disease-mental retardation syndrome|microcephaly, intellectual disability, and distinct Facial features, with or without Hirschsprung disease|microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease|Hirschsprung disease mental retardation syndrome|mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease|intellectual disability, microcephaly, and distinct facial features with or without Hirschsprung disease|Mowat-Wilson syndrome; MOWS|Hirschsprung disease-intellectual disability syndrome|microcephaly, intellectual disability, and distinct facial featrues, with or without Hirschprung disease|Hirschsprung disease-intellectual disability syndrome|Mowat-Wilson syndrome|Hirschsprung disease intellectual disability syndrome|MOWS	http://purl.obolibrary.org/obo/MONDO_0009341	Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations.	ORPHA:2152|UMLS:C1856113|SNOMEDCT:703535000|MESH:C536990|DOID:0060485|NCIT:C74999|http://identifiers.org/omim/235730
MONDO:0010341	autism, susceptibility to, X-linked 2	biolink:Disease	mondo	MESH:D038901|OMIM:300495	predisposition	mental retardation, X-linked|AUTSX2|autism, susceptibility to, X-linked 2; AUTSX2|intellectual disability, X-linked|autism, susceptibility to, X-linked 2|autism, susceptibility to, X-linked type 2|susceptibility to X-linked autism 2	http://purl.obolibrary.org/obo/MONDO_0010341	A class of genetic disorders resulting in intellectual disability that is associated either with mutations of genes located on the X chromosome or aberrations in the structure of the X chromosome (sex chromosome aberrations).	http://identifiers.org/omim/300495|MESH:D038901
MONDO:0009340	non-spherocytic hemolytic anemia due to hexokinase deficiency	biolink:Disease	mondo	MESH:C562995|ICD10:D55.2|Orphanet:90031|GARD:0003672|OMIM:235700	gard_rare|ordo_disease	hemolytic anemia, nonspherocytic, due to hexokinase deficiency|nonspherocytic hemolytic anemia due to hexokinase deficiency|hexokinase deficiency hemolytic anemia	http://purl.obolibrary.org/obo/MONDO_0009340	Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare conditionmainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes.Itcan be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia.	ORPHA:90031|MESH:C562995|http://identifiers.org/omim/235700
MONDO:0010340	Asperger syndrome, X-linked, susceptibility to, 1	biolink:Disease	mondo	OMIM:300494|UMLS:C1845341	predisposition	ASPERGER syndrome, X-linked, susceptibility to, 1; ASPGX1|ASPGX1|Asperger syndrome, X-linked, susceptibility to, 1|Asperger syndrome, X-linked, susceptibility to, type 1|susceptibility to X-linked asperger syndrome 1	http://purl.obolibrary.org/obo/MONDO_0010340		http://identifiers.org/omim/300494|UMLS:C1845341
MONDO:0010343	Asperger syndrome, X-linked, susceptibility to, 2	biolink:Disease	mondo	OMIM:300497	predisposition	susceptibility to X-linked asperger syndrome 2|ASPGX2|ASPERGER syndrome, X-linked, susceptibility to, 2; ASPGX2|Asperger syndrome, X-linked, susceptibility to, 2|Asperger syndrome, X-linked, susceptibility to, type 2	http://purl.obolibrary.org/obo/MONDO_0010343		http://identifiers.org/omim/300497
MONDO:0010342	autism, susceptibility to, X-linked 3	biolink:Disease	mondo	OMIM:300496	predisposition	susceptibility to X-linked autism 3|autism, susceptibility to, X-linked 3; AUTSX3|AUTSX3|autism, susceptibility to, X-linked 3|autism, susceptibility to, X-linked type 3	http://purl.obolibrary.org/obo/MONDO_0010342		http://identifiers.org/omim/300496
MONDO:0010345	obsolete ocular albinism	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0010345		
MONDO:0010344	intellectual disability, X-linked 45	biolink:Disease	mondo	MESH:C564503|OMIM:300498|UMLS:C1845333		mental retardation, X-linked 45|non-syndromic X-linked intellectual disability caused by mutation in ZNF81|ZNF81 non-syndromic X-linked intellectual disability|MRX45|mental retardation, X-linked type 45|mental retardation, X-linked 45; MRX45|intellectual disability, X-linked type 45|intellectual disability, X-linked 45|intellectual disability, X-linked 45; MRX45	http://purl.obolibrary.org/obo/MONDO_0010344	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF81 gene.	MESH:C564503|http://identifiers.org/omim/300498|UMLS:C1845333
HGNC:11547	TAF15	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11547		
MONDO:0010347	MRX84	biolink:Disease	mondo	OMIM:300505|UMLS:C1845297|MESH:C564501		intellectual disability, X-linked 84; MRX84|intellectual disability, X-linked 84|MRX84|mental retardation, X-linked 84; MRX84|mental retardation, X-linked 84	http://purl.obolibrary.org/obo/MONDO_0010347		MESH:C564501|http://identifiers.org/omim/300505|UMLS:C1845297
MONDO:0010346	obsolete MRX52	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0010346		
MONDO:0022316	hair defect with photosensitivity and intellectual disability syndrome	biolink:Disease	mondo	SCTID:721007005		hair defect with photosensitivity and intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0022316	Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents.	SNOMEDCT:721007005
HGNC:11540	TAF6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11540		
MONDO:0024971	parturient paresis	biolink:Disease	mondo	MESH:D010319|UMLS:C0030612|SCTID:405256006		animal milk fever|Pareses, parturient|milk fever, animal|parturient Pareses|paresis, parturient|fever, animal milk	http://purl.obolibrary.org/obo/MONDO_0024971	A disease of pregnant and lactating cows and ewes leading to generalized paresis and death. The disease, which is characterized by hypocalcemia, occurs at or shortly after parturition in cows and within weeks before or after parturition in ewes.	MESH:D010319|SNOMEDCT:405256006|UMLS:C0030612
MONDO:0024973	pneumonia, atypical interstitial, of cattle	biolink:Disease	mondo	MESH:D011016		adenomatosis, pulmonary, bovine|Adenomatoses, bovine pulmonary|emphysema, acute bovine pulmonary|adenomatosis, bovine pulmonary|pulmonary Adenomatoses, bovine|fever, Fog|bovine pulmonary Adenomatoses|atypical interstitial pneumonia of cattle|pulmonary adenomatosis, bovine|Fog fever|bovine pulmonary adenomatosis	http://purl.obolibrary.org/obo/MONDO_0024973	A cattle disease of uncertain cause, probably an allergic reaction.	MESH:D011016
MONDO:0022311	cote katsantoni syndrome	biolink:Disease	mondo	MESH:C536449|UMLS:C2931195|GARD:0001554	gard_rare	ectodermal dysplasia osteosclerosis	http://purl.obolibrary.org/obo/MONDO_0022311		MESH:C536449|UMLS:C2931195
HGNC:23537	DHTKD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23537		
MONDO:0022314	obsolete Hernandez Aguirre-Negrete syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0022314		
MONDO:0010327	HSD10 mitochondrial disease	biolink:Disease	mondo	GARD:0010716|UMLS:C1846168|DOID:0060810|MESH:C536080|ICD10:G25.5|ICD10:E72.8|OMIM:300220|OMIM:300438|UMLS:CN204973|Orphanet:391417|MESH:C564560|SCTID:791000124107	ordo_clinical_subtype|ordo_disease	3H2MBD deficiency|3-hydroxyacyl-CoA dehydrogenase 2 deficiency|2M3HBA|MHBD deficiency|HSD10 mitochondrial disease|17-beta-hydroxysteroid dehydrogenase X deficiency|mental retardation, X-linked, syndromic 10|17 beta-hydroxysteroid dehydrogenase type 10 deficiency|2-methyl-3-hydroxybutyric aciduria|17-beta-hydroxysteroid dehydrogenase 10 deficiency|mental retardation with chorioathetosis and abnormal behavior|3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency|chorioathetosis with mental retardation and abnormal behavior|2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency|X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome|HSD10 deficiency, atypical type|HSD17B10 deficiency|MRXS10|mental retardation, X-linked, syndromic 10; MRXS10|mental retardation, X-linked syndromic 10|syndromic X-linked intellectual disability type 10|HSD10 deficiency|hydroxyacyl-CoA dehydrogenase II deficiency|HSD10MD|mental retardation, X-linked, syndromic type 10	http://purl.obolibrary.org/obo/MONDO_0010327	HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.	MESH:C536080|ORPHA:391417|MESH:C564560|DOID:0060810|UMLS:C1846168|http://identifiers.org/omim/300220|UMLS:CN204973|http://identifiers.org/omim/300438|SNOMEDCT:791000124107
MONDO:0010326	intellectual disability, X-linked 46	biolink:Disease	mondo	MESH:C564513|UMLS:C1845526|OMIM:300436		ARHGEF6 non-syndromic X-linked intellectual disability|mental retardation, X-linked type 46|MRX46|intellectual disability, X-linked type 46|mental retardation, X-linked 46; MRX46|intellectual disability, X-linked 46|intellectual disability, X-linked 46; MRX46|non-syndromic X-linked intellectual disability caused by mutation in ARHGEF6|mental retardation, X-linked 46	http://purl.obolibrary.org/obo/MONDO_0010326	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ARHGEF6 gene.	UMLS:C1845526|MESH:C564513|http://identifiers.org/omim/300436
MONDO:0009359	multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome	biolink:Disease	mondo	DOID:0080327|Orphanet:500135|UMLS:C1856053|OMIM:236500|MESH:C565507	ordo_malformation_syndrome	hydranencephaly with renal aplasia-dysplasia|MARCH|MARCH syndrome|multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly; MARCH|multinucleated neurons, anhydramnios, renal dysplasia, cerebellar Hypoplasia, and hydranencephaly	http://purl.obolibrary.org/obo/MONDO_0009359		DOID:0080327|UMLS:C1856053|ORPHA:500135|MESH:C565507|http://identifiers.org/omim/236500
MONDO:0010329	MRX77	biolink:Disease	mondo	UMLS:C1845499|OMIM:300454|MESH:C564511		intellectual disability, X-linked 77|MRX77|intellectual disability, X-linked 77; MRX77|mental retardation, X-linked 77|mental retardation, X-linked 77; MRX77	http://purl.obolibrary.org/obo/MONDO_0010329		http://identifiers.org/omim/300454|UMLS:C1845499|MESH:C564511
MONDO:0012988	hypogonadotropic hypogonadism 6 with or without anosmia	biolink:Disease	mondo	GARD:0010774|OMIM:612702|DOID:0090086|MESH:C567199|UMLS:C3552574|ICD10:E23.0	gard_rare	Kallmann syndrome 6|HH6|hypogonadotropic hypogonadism caused by mutation in FGF8|hypogonadotropic hypogonadism 6 with or without anosmia|FGF8 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 6 with or without anosmia; HH6|KAL6	http://purl.obolibrary.org/obo/MONDO_0012988	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene.	http://identifiers.org/omim/612702|DOID:0090086|UMLS:C3552574|MESH:C567199
MONDO:0009358	Hutterite cerebroosteonephrodysplasia syndrome	biolink:Disease	mondo	MESH:C536074|UMLS:C1856054|GARD:0009956|OMIM:236450	gard_rare	cerebroosteonephosis syndrome|cond|Hutterite cerebroosteonephrodysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0009358		UMLS:C1856054|MESH:C536074|http://identifiers.org/omim/236450
MONDO:0010328	alpha-thalassemia-myelodysplastic syndrome	biolink:Disease	mondo	Orphanet:231401|MESH:C563023|ICD10:D46.7|ICD9:282.49|OMIM:300448|UMLS:C0585216|SCTID:307343001|ICD10:D56.0	ordo_disease	Hemoglobin H disease, acquired|ATMDS|acquired HbH disease|acquired hemoglobin H disease|ALPHA-thalassemia myelodysplasia syndrome; ATMDS|ALPHA-thalassemia myelodysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0010328	Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH).	UMLS:C0585216|ORPHA:231401|SNOMEDCT:307343001|MESH:C563023|http://identifiers.org/omim/300448
MONDO:0012989	microcephaly 7, primary, autosomal recessive	biolink:Disease	mondo	UMLS:C2675187|DOID:0070278|MESH:C567198|OMIM:612703		microcephaly 7, primary, autosomal recessive; MCPH7|autosomal recessive primary microcephaly caused by mutation in STIL|MCPH7|STIL autosomal recessive primary microcephaly|microcephaly 7, primary, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0012989	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the STIL gene.	MESH:C567198|UMLS:C2675187|http://identifiers.org/omim/612703|DOID:0070278
MONDO:0009357	humeroradial synostosis with craniofacial anomalies	biolink:Disease	mondo	MESH:C566888|OMIM:236410|UMLS:C1968717		humeroradial synostosis with craniofacial anomalies	http://purl.obolibrary.org/obo/MONDO_0009357		MESH:C566888|http://identifiers.org/omim/236410|UMLS:C1968717
MONDO:0009356	autosomal recessive humeroradial synostosis	biolink:Disease	mondo	OMIM:236400		humeroradial/multiple synostosis syndrome|humeroradial synostosis (disease), autosomal recessive|humeroradial synostosis|autosomal recessive humeroradial synostosis (disease)	http://purl.obolibrary.org/obo/MONDO_0009356	Autosomal recessive form of humeroradial synostosis (disease).	http://identifiers.org/omim/236400
MONDO:0009355	Hooft disease	biolink:Disease	mondo	MESH:C535329|OMIM:236300|GARD:0009702|UMLS:C0268479	gard_rare	delayed physical development, erythematosquamous eruption, opaque leukonychia, intellectual disability, and low serum lipids|Hooft disease	http://purl.obolibrary.org/obo/MONDO_0009355		MESH:C535329|http://identifiers.org/omim/236300|UMLS:C0268479
MONDO:0009354	methylcobalamin deficiency type cblE	biolink:Disease	mondo	UMLS:C1856057|Orphanet:2169|NCIT:C142173|MESH:C565510|EFO:0005568|GARD:0002732|OMIM:236270|DOID:0050732|ICD10:E72.1	gard_rare|ordo_clinical_subtype	homocystinuria due to defect in methylation Cbl e|vitamin B12-responsive homocystinuria, cblE type|homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblE complementation type|functional methionine synthase deficiency type cblE|HMAE|homocystinuria-megaloblastic anemia, cblE complementation type; HMAE|methylcobalamin deficiency, cblE type|methylmalonic aciduria and homocystinuria type cblE|homocystinuria-megaloblastic anemia, cblE complementation type	http://purl.obolibrary.org/obo/MONDO_0009354	An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia.	ORPHA:2169|UMLS:C1856057|DOID:0050732|MESH:C565510|NCIT:C142173|http://identifiers.org/omim/236270
MONDO:0009353	homocystinuria due to methylene tetrahydrofolate reductase deficiency	biolink:Disease	mondo	SCTID:41797007|ICD10:E72.1|OMIM:236250|GARD:0002734|Orphanet:395	ordo_disease	homocystinuria due to MTHFR deficiency|5,10 alpha methylenetetrahydro-folate reductase deficiency|methylene tetrahydrofolate reductase deficiency|MTHFR deficiency, thermolabile type|Methylenetetrahydro-folate reductase deficiency|methylenetetrahydrofolate reductase deficiency|homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity|Homocysteinemia due to methylenetetrahydro-folate reductase deficiency|MTHFR deficiency|5,10-alpha-methylenetetrahydro-folate reductase deficiency|Homocysteinuria due to methylenetetrahydro-folate reductase deficiency	http://purl.obolibrary.org/obo/MONDO_0009353	Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations.	SNOMEDCT:41797007|ORPHA:395|http://identifiers.org/omim/236250
MONDO:0010330	primary ciliary dyskinesia-retinitis pigmentosa syndrome	biolink:Disease	mondo	UMLS:C2749137|MESH:C567595|OMIM:300455|Orphanet:247522	ordo_disease	retinitis pigmentosa, X-linked, and SINORESPIRATORY infections, with or without deafness	http://purl.obolibrary.org/obo/MONDO_0010330	Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss.	ORPHA:247522|http://identifiers.org/omim/300455|MESH:C567595|UMLS:C2749137
MONDO:0009352	classic homocystinuria	biolink:Disease	mondo	Orphanet:394|OMIM:236200|MedDRA:10071093|SCTID:24308003|GARD:0006667|UMLS:C0751202|ICD10:E72.1	ordo_disease|gard_rare	homocystinuria with or without response to pyridoxine|homocystinuria due to CBS deficiency|homocystinuria due to cystathionine beta-synthase deficiency|cystathionine beta-synthase deficiency|hyperhomocysteinemia, thrombotic, CBS-related|CBS deficiency	http://purl.obolibrary.org/obo/MONDO_0009352	Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.	ORPHA:394|UMLS:C0751202|SNOMEDCT:24308003|http://identifiers.org/omim/236200|MEDDRA:10071093
MONDO:0012993	dyschromatosis universalis hereditaria 2	biolink:Disease	mondo	UMLS:C2675183|MESH:C567194|OMIM:612715		dyschromatosis universalis hereditaria 2; DUH2|dyschromatosis universalis hereditaria 2|DUH2	http://purl.obolibrary.org/obo/MONDO_0012993		MESH:C567194|UMLS:C2675183|http://identifiers.org/omim/612715
MONDO:0012994	dopa-responsive dystonia due to sepiapterin reductase deficiency	biolink:Disease	mondo	SCTID:45116002|ICD10:G24.1|GARD:0010365|Orphanet:70594|DOID:0111168|MESH:C562657|OMIM:612716|UMLS:C0268468|ICD9:277.89	ordo_disease	dystonia, DOPA-responsive, due to sepiapterin reductase deficiency|SRD|sepiapterin reductase deficiency|DRD due to SRD|DYT-SPR|SPR deficiency|dopa-responsive dystonia due to sepiapterin reductase deficiency|autosomal recessive sepiapterin reductase-deficient DRD	http://purl.obolibrary.org/obo/MONDO_0012994	Dopa responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.	ORPHA:70594|SNOMEDCT:45116002|MESH:C562657|UMLS:C0268468|http://identifiers.org/omim/612716|DOID:0111168
MONDO:0009351	homocarnosinosis	biolink:Disease	mondo	ICD9:277.89|OMIM:236130|UMLS:C0268632|ICD10:E72.8|DOID:0060177|Orphanet:2168|SCTID:61764000|GARD:0002730|MESH:C535328|UMLS:C3495554	ordo_disease	homocarnosinosis|Homocarnosinase deficiency	http://purl.obolibrary.org/obo/MONDO_0009351	Homocarnosinosis is a metabolic defect characterised by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant.	SNOMEDCT:61764000|UMLS:C3495554|MESH:C535328|DOID:0060177|http://identifiers.org/omim/236130|UMLS:C0268632|ORPHA:2168
MONDO:0010332	X-linked intellectual disability-cubitus valgus-dysmorphism syndrome	biolink:Disease	mondo	UMLS:C1845450|OMIM:300471|MESH:C564510|Orphanet:85280|ICD10:Q87.8	ordo_malformation_syndrome	cubitus valgus with mental retardation and unusual facies|cubitus valgus with intellectual disability and unusual facies	http://purl.obolibrary.org/obo/MONDO_0010332	An X-linked syndromic intellectual disability characterised by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.	ORPHA:85280|MESH:C564510|http://identifiers.org/omim/300471|UMLS:C1845450
MONDO:0012991	Kahrizi syndrome	biolink:Disease	mondo	DOID:0050807|MESH:C567196|UMLS:CN200191|OMIM:612713|Orphanet:168972|UMLS:C2675185		mental retardation, cataract, coloboma, and kyphosis, autosomal recessive|Kahrizi syndrome|Kahrizi syndrome; KHRZ|KHRZ|intellectual disability, cataract, coloboma, and kyphosis, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0012991	An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has material basis in mutation in the SRD5A3 gene.	DOID:0050807|ORPHA:168972|MESH:C567196|UMLS:CN200191|UMLS:C2675185|http://identifiers.org/omim/612713
MONDO:0009350	Holzgreve-Wagner-Rehder syndrome	biolink:Disease	mondo	ICD10:Q87.8|DOID:0060566|UMLS:C1856095|MESH:C535327|Orphanet:2167|OMIM:236110|GARD:0002728	ordo_malformation_syndrome	Complex congenital heart defect, renal agenesis and cleft lip and palate|Holzgreve syndrome|Holzgreve Wagner Rehder syndrome|cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome	http://purl.obolibrary.org/obo/MONDO_0009350	A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects.	UMLS:C1856095|MESH:C535327|http://identifiers.org/omim/236110|DOID:0060566|ORPHA:2167
MONDO:0012992	pancreatic insufficiency-anemia-hyperostosis syndrome	biolink:Disease	mondo	UMLS:C2675184|SCTID:722207000|UMLS:C4302747|OMIM:612714|Orphanet:199337|MESH:C567195	ordo_disease	pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome|exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis	http://purl.obolibrary.org/obo/MONDO_0012992	This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.	ORPHA:199337|UMLS:C4302747|SNOMEDCT:722207000|MESH:C567195|UMLS:C2675184|http://identifiers.org/omim/612714
MONDO:0010331	coronary heart disease, susceptibility to, 3	biolink:Disease	mondo	OMIM:300464	predisposition	coronary heart disease, susceptibility to, type 3|Chds3|coronary heart disease, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0010331		http://identifiers.org/omim/300464
MONDO:0012997	cholestasis-pigmentary retinopathy-cleft palate syndrome	biolink:Disease	mondo	MESH:C535632|SCTID:720636001|OMIM:612726|UMLS:C0795969|Orphanet:1415|GARD:0009280	ordo_malformation_syndrome	Hardikar syndrome|HARDIKAR syndrome	http://purl.obolibrary.org/obo/MONDO_0012997	Cholestasis- pigmentary retinopathy- cleft palate is a syndrome of multiple congenital malformations, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicouretral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis etc) have also been reported. An overlap with Kabuki syndrome is debated.	ORPHA:1415|http://identifiers.org/omim/612726|UMLS:C0795969|MESH:C535632|SNOMEDCT:720636001
MONDO:0010334	severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	biolink:Disease	mondo	Orphanet:369939|MESH:C564508|UMLS:CN204816|OMIM:300475|ICD10:Q87.8	ordo_malformation_syndrome	DDCH|deafness, dystonia, and cerebral hypomyelination; DDCH|deafness, dystonia, and cerebral hypomyelination|contiguous ABCD1/Dxs1375E deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0010334	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).	MESH:C564508|ORPHA:369939|UMLS:CN204816|http://identifiers.org/omim/300475
HGNC:11559	TALDO1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11559		
MONDO:0010333	corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	biolink:Disease	mondo	ICD10:Q87.8|Orphanet:52055|OMIM:300472|MESH:C564509|DOID:0060816|GARD:0012486|SCTID:722282008	ordo_malformation_syndrome	intellectual disability, X-linked, syndromic 28|corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia|MRXS28|Graham-Cox syndrome|corpus callosum, agenesis of, with intellectual disability, ocular coloboma and micrognathia|mental retardation, X-linked, syndromic 28|corpus callosum, agenesis of, with intellectual disability, ocular coloboma, and micrognathia|agenesis of the corpus callosum-intellectual disability-coloboma-micrognathia syndrome|corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia	http://purl.obolibrary.org/obo/MONDO_0010333	Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.	MESH:C564509|SNOMEDCT:722282008|ORPHA:52055|DOID:0060816|http://identifiers.org/omim/300472
MONDO:0012998	faciocardiomelic syndrome	biolink:Disease	mondo	OMIM:612731|UMLS:C2674798|MESH:C567176		faciocardiomelic syndrome	http://purl.obolibrary.org/obo/MONDO_0012998		http://identifiers.org/omim/612731|UMLS:C2674798|MESH:C567176
MONDO:0010336	orofaciodigital syndrome VIII	biolink:Disease	mondo	ICD10:Q87.0|DOID:0060378|SCTID:722106001|GARD:0004060|Orphanet:2755|OMIM:300484|MESH:C557820	ordo_malformation_syndrome	OFD syndrome 8|oral-facial-digital syndrome type 8|orofaciodigital syndrome VIII; OFD8|orofaciodigital syndrome VIII|Edwards syndrome|oral facial digital syndrome type 8|orofaciodigital syndrome type 8|orofaciodigital syndrome, Edwards type|oral-facial-digital syndrome, Edwards type|oral-Facial-digital syndrome, type 8|orofaciodigital syndrome type VIII|orofaciodigital syndrome 8|oral facial digital syndrome 8|Ofds 8|OFD8|oral-Facial-digital syndrome with hypoplastic Epiglottis	http://purl.obolibrary.org/obo/MONDO_0010336	Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit.	ORPHA:2755|SNOMEDCT:722106001|DOID:0060378|UMLS:C0796101|http://identifiers.org/omim/300484|MESH:C557820
MONDO:0012995	MYP15	biolink:Disease	mondo	OMIM:612717|UMLS:C2675180|MESH:C567193		myopia 15, autosomal dominant|myopia 15, autosomal dominant; MYP15|MYP15	http://purl.obolibrary.org/obo/MONDO_0012995		MESH:C567193|UMLS:C2675180|http://identifiers.org/omim/612717
HGNC:11557	TAL2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11557		
MONDO:0012996	AGAT deficiency	biolink:Disease	mondo	Orphanet:35704|GARD:0010323|ICD10:E72.8|UMLS:C2675179|SCTID:702440000|ICD9:270.8|MESH:C567192|DOID:0050712|OMIM:612718	ordo_disease	cerebral creatine deficiency syndrome 3; CCDS3|disorder of glycine amidinotransferase activity|disorder of glycine amidinotransferase activity|L-arginine:glycine amidinotransferase deficiency|creatine deficiency syndrome due to AGAT deficiency|GATM deficiency|glycine amidinotransferase activity disease|arginine:glycine amidinotransferase deficiency|AGAT deficiency|CCDS3|cerebral creatine deficiency syndrome type 3|cerebral creatine deficiency syndrome 3	http://purl.obolibrary.org/obo/MONDO_0012996	L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.	http://identifiers.org/omim/612718|DOID:0050712|SNOMEDCT:702440000|ORPHA:35704|MESH:C567192|UMLS:C2675179
MONDO:0010335	X-linked cone-rod dystrophy 3	biolink:Disease	mondo	GARD:0010654|DOID:0111007|MESH:C564507|OMIM:300476	gard_rare	cone-rod dystrophy, X-linked, 3|CORDX3|cone-rod dystrophy X-linked 3|cone-rod dystrophy, X-linked, type 3|cone-rod dystrophy, X-linked, 3; CORDX3|X-linked cone-rod dystrophy type 3	http://purl.obolibrary.org/obo/MONDO_0010335		DOID:0111007|MESH:C564507|http://identifiers.org/omim/300476
HGNC:11556	TAL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11556		
MONDO:0024969	parasitic disease, non-human animal	biolink:Disease	mondo	MESH:D010273|UMLS:C0030500		disease, animal parasitic|parasitic disease, animal|animal parasitic diseases|animal parasitic disease|diseases, animal parasitic	http://purl.obolibrary.org/obo/MONDO_0024969	Infections or infestations with parasitic organisms. The infestation may be experimental or veterinary.	UMLS:C0030500|MESH:D010273
MONDO:0022308	corticobasal degeneration disorder	biolink:Disease	mondo	GARD:0000046|NCIT:C129069	gard_rare	cortico-basal ganglionic Degeneration (CBGD)|CBGD|corticobasal syndrome|cortical basal ganglionic Degeneration|corticobasal degeneration|corticodentatonigral degeneration with neuronal achromasia|cortical-basal ganglionic degeneration|cortical basal ganglionic degeneration	http://purl.obolibrary.org/obo/MONDO_0022308	A progressive neurodegenerative condition affecting the cerebral cortex and basal ganglia. The disorder is characterized by varying degrees of cognitive and motor impairment.	NCIT:C129069
HGNC:11551	BRF1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11551		
MONDO:0012990	Leber congenital amaurosis 13	biolink:Disease	mondo	ICD10:H35.5|MESH:C567197|DOID:0110330|UMLS:C2675186|OMIM:612712|GARD:0010882	gard_rare	LCA13|Leber congenital amaurosis caused by mutation in RDH12|retinitis pigmentosa 53|Leber congenital amaurosis 13|Leber congenital amaurosis 13; LCA13|Leber congenital amaurosis type 13|RDH12 Leber congenital amaurosis	http://purl.obolibrary.org/obo/MONDO_0012990	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RDH12 gene.	DOID:0110330|MESH:C567197|UMLS:C2675186|http://identifiers.org/omim/612712
HGNC:23505	BMS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23505		
HGNC:23503	SLITRK6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23503		
MONDO:0022380	acute lymphoblastic leukemia congenital sporadic aniridia	biolink:Disease	mondo	GARD:0000523	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022380	A disease characterized by acute lymphoblastic leukemia with the presence of congenital sporadic aniridia, the absence of an iris, where neither parent has aniridia.	
HGNC:11521	TAC3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11521		
HGNC:11529	EPCAM	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11529		
HGNC:11528	TACR3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11528		
MONDO:0010396	developmental and epileptic encephalopathy, 2	biolink:Disease	mondo	Orphanet:505652|OMIM:300672|DOID:0080467|ICD10:G40.4|UMLS:C1839333|MESH:C564064	ordo_disease	epileptic encephalopathy, early infantile, 2|epileptic encephalopathy, early infantile, 2; EIEE2|infantile spasm syndrome, X-linked 2|DEE2|epileptic encephalopathy, early infantile, type 2|EIEE2|early infantile epileptic encephalopathy caused by mutation in CDKL5|CDKL5 early infantile epileptic encephalopathy	http://purl.obolibrary.org/obo/MONDO_0010396	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene.	ORPHA:505652|http://identifiers.org/omim/300672|DOID:0080467|UMLS:C1839333|MESH:C564064
MONDO:0010395	phosphoribosylpyrophosphate synthetase superactivity	biolink:Disease	mondo	ICD10:E79.8|OMIM:300661|Orphanet:3222|DOID:0111260|UMLS:C1970827|SCTID:723454008|MESH:C567064	ordo_disease	PRPS1 superactivity|gout, PRPS-related|PRPP synthetase superactivity|phosphoribosylpyrophosphate synthetase superactivity	http://purl.obolibrary.org/obo/MONDO_0010395	Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity).	ORPHA:3222|http://identifiers.org/omim/300661|MESH:C567064|UMLS:C1970827|DOID:0111260|SNOMEDCT:723454008
MONDO:0010398	syndromic X-linked intellectual disability 14	biolink:Disease	mondo	MESH:C567063|DOID:0060821|ICD10:Q87.8|OMIM:300676|UMLS:C1970822		mental retardation, X-linked, syndromic 14; MRXS14|intellectual disability, X-linked, syndromic 14; MRXS14|intellectual disability, X-linked, syndromic type 14|mental retardation, X-linked, syndromic type 14|MRXS14|intellectual disability, X-linked, syndromic 14|syndromic X-linked intellectual disability type 14|UPF3B X-linked syndromic intellectual disability|mental retardation, X-linked, syndromic 14|X-linked syndromic intellectual disability caused by mutation in UPF3B	http://purl.obolibrary.org/obo/MONDO_0010398	Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the UPF3B gene.	MESH:C567063|http://identifiers.org/omim/300676|UMLS:C1970822|DOID:0060821
MONDO:0010397	severe neonatal-onset encephalopathy with microcephaly	biolink:Disease	mondo	OMIM:300673|Orphanet:209370|ICD10:Q02|MESH:C566878|UMLS:C1968556|NCIT:C132293	ordo_disease	severe congenital encephalopathy due to MECP2 mutation|encephalopathy, neonatal severe, due to MECP2 mutations|severe Neonatal encephalopathy due to MECP2 mutations	http://purl.obolibrary.org/obo/MONDO_0010397	An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy.	http://identifiers.org/omim/300673|ORPHA:209370|NCIT:C132293|MESH:C566878|UMLS:C1968556
HGNC:11530	TACSTD2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11530		
MONDO:0010399	chromosome Xp21 deletion syndrome	biolink:Disease	mondo	DOID:0060427|OMIM:300679|UMLS:C0795887|Orphanet:261476|ICD10:Q99.8|SCTID:297257004|ICD9:277.6	ordo_disease	chromosome Xp21 deletion syndrome|complex glycerol kinase deficiency|Xp21 microdeletion syndrome|monosomy Xp21|Xp21 contiguous gene deletion syndrome|Complex Glycerol kinase deficiency|Del(X)(p21)|Glycerol kinase deficiency-contiguous gene syndrome	http://purl.obolibrary.org/obo/MONDO_0010399		ORPHA:261476|http://identifiers.org/omim/300679|UMLS:C0795887|SNOMEDCT:297257004|DOID:0060427
HGNC:11536	TAF2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11536		
HGNC:11535	TAF1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11535		
HGNC:23508	STOX1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23508		
MONDO:0010390	ocular albinism with late-onset sensorineural deafness	biolink:Disease	mondo	UMLS:C1845069|SCTID:722054007|ICD10:E70.3|OMIM:300650|GARD:0000592|Orphanet:1000	ordo_disease	albinism, ocular, with late-onset sensorineural deafness; OASD|ocular albinism with sensorineural deafness|OASD|albinism ocular late onset sensorineural deafness|deafness and ocular albinism|albinism, ocular, with late-onset sensorineural deafness	http://purl.obolibrary.org/obo/MONDO_0010390	Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism or a contiguous gene syndrome.	MESH:C537043|ORPHA:1000|SNOMEDCT:722054007|UMLS:C1845069|http://identifiers.org/omim/300650
MONDO:0010392	glycogen storage disease due to phosphoglycerate kinase 1 deficiency	biolink:Disease	mondo	ICD10:E74.0|UMLS:C1970848|MESH:C567067|NCIT:C126738|GARD:0007389|Orphanet:713|OMIM:300653	ordo_disease	PHOSPHOGLYCERATE KINASE 1 deficiency|glycogenosis due to phosphoglycerate kinase 1 deficiency|PGK deficiency|Pgk1 deficiency|Phosphoglycerate kinase deficiency|glycogen storage disease caused by mutation in PGK1|GSD due to phosphoglycerate kinase 1 deficiency|PGK1 glycogen storage disease	http://purl.obolibrary.org/obo/MONDO_0010392	Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.	http://identifiers.org/omim/300653|MESH:C567067|UMLS:C1970848|ORPHA:713|UMLS:C0684324|NCIT:C126738
MONDO:0010391	angioma serpiginosum, X-linked	biolink:Disease	mondo	OMIM:300652|GARD:0010188		angioma serpiginosum, X-linked	http://purl.obolibrary.org/obo/MONDO_0010391		http://identifiers.org/omim/300652
MONDO:0010394	obsolete leukoencephalopathy-metaphyseal chondrodysplasia syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0010394		
MONDO:0010393	intellectual disability, X-linked 93	biolink:Disease	mondo	UMLS:C1970841|MESH:C567066|OMIM:300659		intellectual disability, X-linked type 93|intellectual disability, X-linked 93|mental retardation, X-linked 93; MRX93|BRWD3 non-syndromic X-linked intellectual disability|mental retardation, X-linked 93|intellectual disability, X-linked, with macrocephaly|MRX93|mental retardation, X-linked type 93|intellectual disability, X-linked 93; MRX93|non-syndromic X-linked intellectual disability caused by mutation in BRWD3|mental retardation, X-linked, with macrocephaly	http://purl.obolibrary.org/obo/MONDO_0010393	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the BRWD3 gene.	http://identifiers.org/omim/300659|MESH:C567066|UMLS:C1970841
MONDO:0009389	hyperlysinemia due to defect in lysine transport into mitochondria	biolink:Disease	mondo	OMIM:238710|MESH:C565499|UMLS:C1855927		hyperlysinemia due to defect in lysine TRANSPORT into mitochondria	http://purl.obolibrary.org/obo/MONDO_0009389		MESH:C565499|UMLS:C1855927|http://identifiers.org/omim/238710
MONDO:0009388	hyperlysinemia (disease)	biolink:Disease	mondo	UMLS:C0268553|NCIT:C123433|OMIM:238700|SCTID:58558003|ICD10:E72.3|Orphanet:2203|ICD9:270.7|GARD:0002828|DOID:9274|HP:0002161	ordo_disease	hyperlysinemia type I|Alpha-aminoadipic semialdehyde synthase deficiency|L-lysine:NAD-oxido-reductase deficiency|L-lysine NAD-oxido-reductase deficiency|hyperlysinemia, type I|hyperlysinemia|lysine:Alpha-ketoglutarate reductase deficiency|lysine intolerance|lysine alpha-ketoglutarate reductase deficiency|hyperlysinemia, type 1	http://purl.obolibrary.org/obo/MONDO_0009388	Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present.	http://identifiers.org/omim/238700|DOID:9274|SNOMEDCT:58558003|MESH:D020167|UMLS:C0936256|UMLS:C0268553|NCIT:C123433|ORPHA:2203
MONDO:0009387	familial lipoprotein lipase deficiency	biolink:Disease	mondo	SCTID:275598004|Orphanet:309015|DOID:14118|GARD:0012241|COHD:437521|ICD9:272.3|NCIT:C84771|ICD10:E78.3|MESH:D008072|OMIM:238600	gard_rare|ordo_clinical_subtype	hyperlipoproteinemia, type 1|lipoprotein lipase deficiency, familial|hyperchylomicronemia|mixed hyperglyceridemia|familial lipoprotein lipase deficiency (disorder) [ambiguous]|lipd deficiency|hyperchylomicronemia, familial|hyperlipoproteinemia type I|hyperlipoproteinemia, type 1A|familial fat-induced hypertriglyceridemia|familial hyperlipoproteinemia type I|lipase D deficiency|chylomicronemia, familial|hyperlipemia, idiopathic, Burger-Grutz type|endogenous hypertriglyceridaemia|hyperlipoproteinemia, type I|LPL deficiency|Burger-Grutz syndrome|lipoprotein lipase deficiency|familial lipoprotein lipase deficiency with type I phenotype|type I hyperlipoproteinemia|Fredrickson type I lipaemia|familial LPL deficiency|familial hyperchylomicronemia|hyperlipemia, essential familial|familial chylomiconemia syndrome|hypercholesterinaemic xanthomatosis|Fredrickson type I hyperlipoproteinemia	http://purl.obolibrary.org/obo/MONDO_0009387	Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines.	DOID:14118|ORPHA:309015|http://identifiers.org/omim/238600|NCIT:C84771|SNOMEDCT:275598004|MESH:D008072
MONDO:0009386	hyperlexia	biolink:Disease	mondo	OMIM:238350|MESH:C565500		hyperlexia|compulsive reading|precocious reading	http://purl.obolibrary.org/obo/MONDO_0009386		MESH:C565500|http://identifiers.org/omim/238350
MONDO:0010385	X-linked lymphoproliferative disease due to XIAP deficiency	biolink:Disease	mondo	ICD10:D82.3|MESH:C564469|Orphanet:538934|UMLS:C1845076|NCIT:C126295|OMIM:300635|GARD:0010916|DOID:0060706	ordo_disease|gard_rare	lymphoproliferative syndrome, X-linked, 2|lymphoproliferative syndrome, X-linked, type 2|XLP2|X-linked lymphoproliferative syndrome type 2|XIAP deficiency/XLPs|XIAP-related lymphoproliferative disease, X-linked|XIAP deficiency|lymphoproliferative syndrome, X-linked, 2; XLP2|Xiap deficiency	http://purl.obolibrary.org/obo/MONDO_0010385	A condition of decreased or absent presence of baculoviral IAP repeat-containing protein 4. Deficiency of this protein is associated with X-linked lymphoproliferative syndrome 2.	UMLS:C1845076|http://identifiers.org/omim/300635|MESH:C564469|NCIT:C126295|ORPHA:538934|DOID:0060706
MONDO:0009385	hyperleucine-Isoleucinemia	biolink:Disease	mondo	SCTID:7046009|UMLS:C0268574|OMIM:238340|MESH:C562674		hyperleucine-Isoleucinemia	http://purl.obolibrary.org/obo/MONDO_0009385		http://identifiers.org/omim/238340|MESH:C562674|UMLS:C0268574|SNOMEDCT:7046009
MONDO:0009384	Leydig cell hypoplasia, type 1	biolink:Disease	mondo	OMIM:238320		hypergonadotropic hypogonadism, Male, due to Lhcgr defect|luteinizing hormone resistance, female|Leydig cell hypoplasia, complete|Leydig cell hypoplasia with male pseudohermaphroditism|Leydig cell hypoplasia, type I|Leydig cell hypoplasia, partial|Leydig cell agenesis|Leydig cell Hypoplasia, type 2|Leydig cell hypoplasia caused by mutation in LHCGR|LHCGR Leydig cell hypoplasia	http://purl.obolibrary.org/obo/MONDO_0009384	Any Leydig cell hypoplasia in which the cause of the disease is a mutation in the LHCGR gene.	http://identifiers.org/omim/238320
MONDO:0010384	hypospadias 1, X-linked	biolink:Disease	mondo	MESH:C567482|OMIM:300633|UMLS:C2678098		hypospadias 1, X-linked; HYSP1|HYSP1|hypospadias 1, X-linked	http://purl.obolibrary.org/obo/MONDO_0010384		UMLS:C2678098|http://identifiers.org/omim/300633|MESH:C567482
MONDO:0009383	transient familial neonatal hyperbilirubinemia	biolink:Disease	mondo	MESH:C562692|Orphanet:2312|OMIM:237900|GARD:0002791|UMLS:C0270210|ICD10:P59.8|GARD:0003304	gard_rare|ordo_disease	breast milk jaundice|HBLRTFN|transient familial hyperbilirubinemia|hyperbilirubinemia, transient familial neonatal|hyperbilirubinemia, transient familial neonatal; HBLRTFN|hyperbilirubinemia transient familial neonatal|Lucey-Driscoll syndrome	http://purl.obolibrary.org/obo/MONDO_0009383		http://identifiers.org/omim/237900|MESH:C562692|ORPHA:2312|UMLS:C0270210
MONDO:0010387	obsolete invasive pneumococcal disease, recurrent isolated, 2	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0010387		
MONDO:0010386	immunodeficiency 33	biolink:Disease	mondo	UMLS:C1970879|GARD:0012915|MESH:C564468|OMIM:300640|MESH:C567070|ICD10:D84.8|OMIM:300636|UMLS:C1845073|Orphanet:319612	predisposition|ordo_etiological_subtype	invasive pneumococcal disease, recurrent isolated caused by mutation in IKBKG|invasive pneumococcal disease, recurrent isolated, 2; IPD2|X-linked MSMD due to IKBKG deficiency|IKBKG X-linked mendelian susceptibility to mycobacterial diseases|atypical Mycobacteriosis, familial, X-linked 1|IMD33|immunodeficiency type 33|NF-kappa B essential modulator deficiency|invasive pneumococcal disease, recurrent isolated, type 2|X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency|X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency|familial X-linked 1 atypical mycobacteriosis|X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in IKBKG|NEMO deficiency syndrome|invasive pneumococcal disease, recurrent isolated, 2|IPD2|IKBKG invasive pneumococcal disease, recurrent isolated|X-linked MSMD due to NEMO deficiency|immunodeficiency 33, Mycobacteriosis, X-linked	http://purl.obolibrary.org/obo/MONDO_0010386	Any immunodeficiency disease in which the cause of the disease is a mutation in the IKBKG gene.	MESH:C567070|http://identifiers.org/omim/300636|http://identifiers.org/omim/300640|UMLS:C1845073|ORPHA:319612|UMLS:C1970879|MESH:C564468
MONDO:0009382	PSHB	biolink:Disease	mondo	OMIM:237800		PSHB|hyperbilirubinemia, shunt, primary|hyperbilirubinemia, shunt, primary; PSHB	http://purl.obolibrary.org/obo/MONDO_0009382		http://identifiers.org/omim/237800
MONDO:0009381	hyperbilirubinemia, conjugated, type 3	biolink:Disease	mondo	SCTID:235906009|OMIM:237550|MESH:C562885|UMLS:C0400964		hyperbilirubinemia, conjugated, type III	http://purl.obolibrary.org/obo/MONDO_0009381		http://identifiers.org/omim/237550|MESH:C562885|UMLS:C0400964|SNOMEDCT:235906009
MONDO:0010389	X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency	biolink:Disease	mondo	ICD10:D84.8|MESH:C567068|UMLS:C1970859|Orphanet:319623|OMIM:300645	predisposition|ordo_etiological_subtype	atypical Mycobacteriosis, familial, X-linked 2|immunodeficiency type 34|immunodeficiency 34|immunodeficiency 34, Mycobacteriosis, X-linked|X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in CYBB|immunodeficiency 34; IMD34|CYBB X-linked mendelian susceptibility to mycobacterial diseases|X-linked MSMD due to CYBB deficiency|IMD34	http://purl.obolibrary.org/obo/MONDO_0010389	Any X-linked mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the CYBB gene.	ORPHA:319623|http://identifiers.org/omim/300645|MESH:C567068|UMLS:C1970859
MONDO:0009380	Dubin-Johnson syndrome	biolink:Disease	mondo	SCTID:44553005|GARD:0002793|NCIT:C34741|UMLS:C0022350|OMIM:237500|MedDRA:10013800|MESH:D007566|GARD:0006289|Orphanet:234|DOID:12308|ICD10:E80.6	ordo_disease|gard_rare	Dubin-Johnson syndrome; DJS|hyperbilirubinemia 2|hyperbilirubinemia type 2|Sprinz-Nelson syndrome|chronic idiopathic jaundice|hyperbilirubinemia, Dubin-Johnson type|Dubin Johnson syndrome|Dubin-Johnson syndrome|conjugated hyperbilirubinemia|DJS|Dubin-Sprinz disease	http://purl.obolibrary.org/obo/MONDO_0009380	Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells.	MESH:D007566|DOID:12308|UMLS:C0022350|http://identifiers.org/omim/237500|SNOMEDCT:44553005|MEDDRA:10013800|ORPHA:234|NCIT:C34741
MONDO:0036976	benign epithelial neoplasm	biolink:Disease	mondo	NCIT:C4092|ICDO:8011/0|UMLS:C0334232|ICDO:8010/0		epithelioma, benign|benign epithelioma|epithelial neoplasm, benign|benign tumor of epithelium|benign epithelial tumor|benign tumor of the epithelium|benign neoplasm of epithelium|benign neoplasm of the epithelium|benign epithelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0036976	A neoplasm arising from the epithelial cells. It is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign epithelial neoplasms remain confined to the original site of growth and only rarely metastasize to other anatomic sites.	NCIT:C4092|UMLS:C0334232
MONDO:0010388	rolandic epilepsy, mental retardation, and speech dyspraxia, X-linked	biolink:Disease	mondo	UMLS:C1845070|OMIM:300643|MESH:C564467		ROLANDIC epilepsy, intellectual disability, and speech dyspraxia, X-linked; RESDX|ROLANDIC epilepsy, mental retardation, and speech dyspraxia, X-linked; RESDX|rolandic epilepsy, mental retardation, and speech dyspraxia, X-linked|RESDX|rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	http://purl.obolibrary.org/obo/MONDO_0010388		http://identifiers.org/omim/300643|UMLS:C1845070|MESH:C564467
OBO:so#member_of	member_of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/so#member_of		
HGNC:11503	SYNJ1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11503		
MONDO:0010381	Tn polyagglutination syndrome	biolink:Disease	mondo	OMIM:300622|DOID:0080520|MESH:C562719|UMLS:C0272137		Tn polyagglutination syndrome; TNPS|Tn polyagglutination syndrome|galactosyltransferase deficiency|TNPS	http://purl.obolibrary.org/obo/MONDO_0010381		UMLS:C0272137|http://identifiers.org/omim/300622|DOID:0080520|MESH:C562719
MONDO:0010380	cataract, ataxia, short stature, and mental retardation	biolink:Disease	mondo	GARD:0010222|OMIM:300619|UMLS:C1845094|MESH:C535345		cataract, ataxia, short stature, and mental retardation|cataracts, ataxia, short stature, and mental retardation|cataract, ataxia, short stature, and intellectual disability|Casm syndrome|cataracts, ataxia, short stature, and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0010380		http://identifiers.org/omim/300619|UMLS:C1845094|MESH:C535345
MONDO:0010383	fragile X syndrome	biolink:Disease	mondo	NCIT:C84717|SCTID:613003|UMLS:C0016667|OMIM:300624|GARD:0006464|ICD10:Q99.2|DOID:14261|COHD:436803|MedDRA:10017324|Orphanet:908|ICD9:759.83|MESH:D005600	ordo_malformation_syndrome	FRAXA syndrome|primary ovarian insufficiency, fragile X-associated|fragile 10 intellectual disability syndrome|X-linked mental retardation and macroorchidism|fragile X syndrome; FXS|X-linked intellectual disability and macroorchidism|fragile 10 premature ovarian failure|fragile 10 syndrome|FraX syndrome|fragile X intellectual disability syndrome|mental retardation, X-linked, associated with Marxq28|fragile X mental retardation syndrome|Martin-Bell syndrome|marker 10 syndrome|fra(X) syndrome|intellectual disability, X-linked, associated with Marxq28|marker X syndrome|fragile 10 mental retardation syndrome|FXS	http://purl.obolibrary.org/obo/MONDO_0010383	A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities.	NCIT:C84717|UMLS:C0016667|http://identifiers.org/omim/300624|SNOMEDCT:613003|DOID:14261|UMLS:C0751156|MEDDRA:10017324|ORPHA:908|MESH:D005600
MONDO:0010382	fragile X-associated tremor/ataxia syndrome	biolink:Disease	mondo	DOID:0050879|Orphanet:93256|NCIT:C126566|MESH:C564105|OMIM:300623|UMLS:C1839780|ICD10:G11.2|SCTID:448045004	ordo_malformation_syndrome	FXTAS|fragile X tremor/ataxia syndrome; FXTAS|FXTAS syndrome|fragile X tremor/ataxia syndrome|fragile 10 tremor/ataxia syndrome	http://purl.obolibrary.org/obo/MONDO_0010382	Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.	http://identifiers.org/omim/300623|UMLS:C3164069|DOID:0050879|MESH:C564105|UMLS:C1839780|SNOMEDCT:448045004|NCIT:C126566|ORPHA:93256
MONDO:0022357	congenital acardia	biolink:Disease	mondo	GARD:0009823|ICD9:759.89|SCTID:205834002	gard_rare	acardia|congenital absence of the heart	http://purl.obolibrary.org/obo/MONDO_0022357		SNOMEDCT:205834002
HGNC:11506	SYP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11506		
MONDO:0009399	hyperphosphatemia, polyuria, and seizures	biolink:Disease	mondo	MESH:C565494|OMIM:239350|UMLS:C1855922		hyperphosphatemia, polyuria, and seizures	http://purl.obolibrary.org/obo/MONDO_0009399		MESH:C565494|http://identifiers.org/omim/239350|UMLS:C1855922
MONDO:0009398	hyperphosphatasia with intellectual disability syndrome 1	biolink:Disease	mondo	OMIM:239300|UMLS:CN030519		glycosylphosphatidylinositol biosynthesis defect 2|hyperphosphatasia with mental retardation syndrome 1|hyperphosphatasia with mental retardation syndrome 1; HPMRS1|hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGV|PIGV hyperphosphatasia-intellectual disability syndrome|hyperphosphatasia with intellectual disability syndrome 1; HPMRS1|Mabry syndrome|hyperphosphatasia with intellectual disability syndrome 1|hyperphosphatasia with intellectual disability syndrome type 1|hyperphosphatasia with mental retardation syndrome type 1|HPMRS1	http://purl.obolibrary.org/obo/MONDO_0009398	Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGV gene.	http://identifiers.org/omim/239300|UMLS:CN030519
MONDO:0009397	neonatal severe primary hyperparathyroidism	biolink:Disease	mondo	Orphanet:417|UMLS:C1832615|SCTID:715218009|NCIT:C131853|ICD10:E21.0|GARD:0002838|OMIM:239200|MESH:C563375	ordo_disease	NSHPT|Nsph|hyperparathyroidism, neonatal severe primary|hyperparathyroidism, neonatal severe; NSHPT|neonatal severe hyperparathyroidism|hyperparathyroidism, neonatal severe	http://purl.obolibrary.org/obo/MONDO_0009397	3.5 mM) from birth and associated with major hyperparathyroidism.	MESH:C563375|NCIT:C131853|SNOMEDCT:715218009|UMLS:C1832615|ORPHA:417|http://identifiers.org/omim/239200
HGNC:11509	SYT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11509		
MONDO:0010374	retinitis pigmentosa 34	biolink:Disease	mondo	UMLS:C1845104|GARD:0010390|ICD10:H35.5|OMIM:300605|DOID:0110417|MESH:C564475	gard_rare	retinitis pigmentosa 34|RP 34|retinitis pigmentosa type 34|RP34|retinitis pigmentosa 34; RP34	http://purl.obolibrary.org/obo/MONDO_0010374	A retinitis pigmentosa that has material basis in variation in the chromosome region Xq28.	http://identifiers.org/omim/300605|UMLS:C1845104|DOID:0110417|MESH:C564475
MONDO:0009396	hyperparathyroidism, neonatal self-limited primary, with hypercalciuria	biolink:Disease	mondo	MESH:C565496|OMIM:239199|UMLS:C1855924		hyperparathyroidism, neonatal self-limited primary, with hypercalciuria	http://purl.obolibrary.org/obo/MONDO_0009396		UMLS:C1855924|http://identifiers.org/omim/239199|MESH:C565496
MONDO:0009395	hyperostosis corticalis generalisata	biolink:Disease	mondo	NCIT:C131812|GARD:0002833|ICD10:M85.2|SCTID:59763006|OMIM:239100|Orphanet:3416|DOID:0080036	ordo_malformation_syndrome	Van Buchem disease|VBCH|endosteal hyperostosis autosomal recessive|VAN Buchem disease; VBCH|hyperphosphatasemia tarda|endosteal hyperostosis|van Buchem disease|SOST-related sclerosing bone dysplasia|hyperostosis corticalis generalisata|endosteal hyperostosis, autosomal recessive|van Buchem disease type 1	http://purl.obolibrary.org/obo/MONDO_0009395	Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.	SNOMEDCT:59763006|NCIT:C131812|ORPHA:3416|DOID:0080036|http://identifiers.org/omim/239100
MONDO:0010373	premature ovarian failure 2B	biolink:Disease	mondo	OMIM:300604|MESH:C564476|UMLS:C1845105		POF2B|premature ovarian failure 2B; POF2B|premature ovarian failure type 2B|POF1B primary ovarian failure|premature ovarian failure 2B|primary ovarian failure caused by mutation in POF1B	http://purl.obolibrary.org/obo/MONDO_0010373	Any primary ovarian failure in which the cause of the disease is a mutation in the POF1B gene.	http://identifiers.org/omim/300604|UMLS:C1845105|MESH:C564476
HGNC:11510	SYT2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11510		
MONDO:0009394	juvenile Paget disease	biolink:Disease	mondo	ICD10:M88.0|NCIT:C131861|SCTID:9723006|ICD10:M88.9|Orphanet:2801|ICD10:M88.8|GARD:0002831|OMIM:239000|MESH:C537701	ordo_malformation_syndrome|gard_rare	hyperphosphatasia, familial idiopathic|Paget disease of bone 5, juvenile-onset|PDB5|JPD|osteoectasia, familial|hyperphosphatasemia, chronic congenital idiopathic|JPG|Paget disease juvenile type|Paget disease of bone 5, juvenile-onset; PDB5|juvenile Paget's disease|hyperostosid corticalis deformans juvenilis|juvenile Pagets disease|juvenile Paget disease|familial hyperphosphatasia|familial osteoectasia|hyperostosis corticalis deformans juvenilis|hereditary hyperphosphatasia	http://purl.obolibrary.org/obo/MONDO_0009394	Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss.	NCIT:C131861|SNOMEDCT:9723006|http://identifiers.org/omim/239000|ORPHA:2801|MESH:C537701
MONDO:0010376	obsolete Brooks-Wisniewski-brown syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0010376		
MONDO:0010375	developmental and epileptic encephalopathy, 8	biolink:Disease	mondo	OMIM:300607|DOID:0080215|Orphanet:163985|UMLS:C1845102|ICD10:G25.8|MESH:C564474	ordo_disease	hyperekplexia and epilepsy|epileptic encephalopathy, early infantile, 8; EIEE8|epileptic encephalopathy, early infantile, type 8|hyperekplexia-epilepsy syndrome|epileptic encephalopathy, early infantile, 8|DEE8|early infantile epileptic encephalopathy 8|EIEE8	http://purl.obolibrary.org/obo/MONDO_0010375		UMLS:C1845102|http://identifiers.org/omim/300607|DOID:0080215|MESH:C564474|ORPHA:163985
MONDO:0009393	ornithine translocase deficiency	biolink:Disease	mondo	Orphanet:415|GARD:0002830|SCTID:30287008|ICD10:E72.4|UMLS:C0268540|OMIM:238970|NCIT:C129029|MESH:C538380|DOID:0050720	ordo_disease	ornithine translocase deficiency syndrome|ornithine translocase deficiency|hyperornithinemia-hyperammonemia-homocitrullinuria syndrome|triple H syndrome|HHH syndrome|HHHS|Hhh syndrome|HHH|hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome|ornithine carrier deficiency|ORNT1 deficiency	http://purl.obolibrary.org/obo/MONDO_0009393	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (triple H syndrome) is a disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or chronic liver dysfunction.	http://identifiers.org/omim/238970|UMLS:C0268540|MESH:C538380|NCIT:C129029|ORPHA:415|DOID:0050720|SNOMEDCT:30287008
MONDO:0010378	X-linked hereditary sensory and autonomic neuropathy with deafness	biolink:Disease	mondo	MESH:C564472|SCTID:719838008|Orphanet:139583|ICD10:G60.8|UMLS:C1845095|UMLS:C4304400|GARD:0012731|OMIM:300614	gard_rare|ordo_disease	X-linked auditory neuropathy with peripheral sensory neuropathy type 1|DFNX5|X-linked HSAN with deafness|deafness, X-linked 5|auditory neuropathy, X-linked, 1, with peripheral sensory neuropathy|deafness, X-linked 5; DFNX5	http://purl.obolibrary.org/obo/MONDO_0010378	This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.	ORPHA:139583|SNOMEDCT:719838008|http://identifiers.org/omim/300614|UMLS:C1845095|UMLS:C4304400|MESH:C564472
MONDO:0009392	hyperopia, high	biolink:Disease	mondo	OMIM:238950|MESH:C565497		hyperopia, high	http://purl.obolibrary.org/obo/MONDO_0009392		http://identifiers.org/omim/238950|MESH:C565497
HGNC:11515	TBXT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11515		
MONDO:0009391	hypermetabolism due to defect in mitochondria	biolink:Disease	mondo	UMLS:C1855926|OMIM:238800|MESH:C565498		hypermetabolism due to defect in mitochondria	http://purl.obolibrary.org/obo/MONDO_0009391		http://identifiers.org/omim/238800|MESH:C565498|UMLS:C1855926
MONDO:0010377	MYP13	biolink:Disease	mondo	OMIM:300613|UMLS:C1845096|MESH:C564473		MYP13|myopia 13, X-linked|myopia 13, X-linked; MYP13	http://purl.obolibrary.org/obo/MONDO_0010377		UMLS:C1845096|http://identifiers.org/omim/300613|MESH:C564473
MONDO:0009390	hyperlysinuria with hyperammonemia	biolink:Disease	mondo	UMLS:C0268555|ICD9:270.7|SCTID:342553006|OMIM:238750		hyperlysinemia, periodic|hyperlysinuria with hyperammonemia	http://purl.obolibrary.org/obo/MONDO_0009390		http://identifiers.org/omim/238750|SNOMEDCT:342553006|UMLS:C0268555
MONDO:0010379	Brunner syndrome	biolink:Disease	mondo	ICD10:E70.8|DOID:0060693|UMLS:C0796275|GARD:0003531|MESH:C563156|Orphanet:3057|SCTID:718210003|OMIM:300615	ordo_disease	Brunner syndrome; BRNRS|monoamine oxidase A deficiency|Brunner syndrome|antisocial behavior, susceptibility to|BRNRS	http://purl.obolibrary.org/obo/MONDO_0010379	Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood.	MESH:C563156|DOID:0060693|ORPHA:3057|SNOMEDCT:718210003|UMLS:C0796275|http://identifiers.org/omim/300615
MONDO:0022349	congenital absence of septum pellucidum	biolink:Disease	mondo	MESH:C535562|ICD9:742.4|GARD:0009253|SCTID:253143001	gard_rare	absence of septum pellucidum	http://purl.obolibrary.org/obo/MONDO_0022349	The absence of the septum pellucidum is a rare condition that affects the structure of the brain. Specifically, a thin membrane called the septum pellucidum is missing from its normal position in the middle of the brain. When it is missing, symptoms may include learning difficulties, behavioral changes, seizures, and changes in vision. Absence of the septum pellucidum is not typically seen as an isolated finding. Instead, absence of the septum pellucidum is associated with other conditions such as septo-optic dysplasia. Treatment options for the condition vary depending on the underlying disorder. Diagnosis of absence of the septum pellucidum can be made through imaging such as an MRI. Symptoms of absence of the septum pellucidum typically present during childhood, but a diagnosis can also be made before an individual is born (prenatally). If an individual is found to be missing the septum pellucidum, a search for an underlying disorder should be made.	MESH:C535562|SNOMEDCT:253143001
GO:0090594	inflammatory response to wounding	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0090594	The immediate defensive reaction by vertebrate tissue to injury caused by chemical or physical agents.	
MONDO:0010370	Cornelia de Lange syndrome 2	biolink:Disease	mondo	NCIT:C75485|UMLS:C1802395|OMIM:300590|DOID:0080506		Cdls, X-linked|SMC1A Cornelia de Lange syndrome|Cornelia de Lange syndrome caused by mutation in SMC1A|Cornelia De Lange syndrome type 2|Cornelia DE Lange syndrome 2; CDLS2|Cornelia De Lange syndrome, X-linked|Cornelia de Lange syndrome 2|CDLS2|X-linked Cornelia De Lange syndrome	http://purl.obolibrary.org/obo/MONDO_0010370	An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder form of the syndrome compared to patients with the NIPBL gene mutation.	http://identifiers.org/omim/300590|DOID:0080506|UMLS:C1802395|NCIT:C75485
MONDO:0010372	Clark-Baraitser syndrome	biolink:Disease	mondo	UMLS:C2931130|GARD:0009994|OMIM:300602|MESH:C536208	gard_rare	mental retardation, tall stature, obesity, macrocephaly and typical facial features|intellectual disability, tall stature, obesity, macrocephaly and typical facial features|Clark-Baraitser syndrome|Baraitser syndrome	http://purl.obolibrary.org/obo/MONDO_0010372		http://identifiers.org/omim/300602|MESH:C536208|UMLS:C2931130
GO:0090596	sensory organ morphogenesis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0090596	Morphogenesis of a sensory organ. A sensory organ is defined as a tissue or set of tissues that work together to receive and transmit signals from external or internal stimuli. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions.	
MONDO:0010371	Aland island eye disease	biolink:Disease	mondo	MESH:C562664|SCTID:266455006|Orphanet:178333|DOID:0050630|ICD10:H35.5|GARD:0010574|UMLS:C0268505|OMIM:300600	ordo_disease	Aland island eye disease|FORSIUS-Eriksson type ocular albinism|AIED|Åland Islands eye disease|ALAND ISLAND eye disease; AIED|AIED|Forsius-Eriksson syndrome|Forsius Eriksson type ocular albinism|Forsius-Eriksson type ocular albinism	http://purl.obolibrary.org/obo/MONDO_0010371	Aland Island Eye Disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.	MESH:C562664|UMLS:C0268505|http://identifiers.org/omim/300600|ORPHA:178333|DOID:0050630|SNOMEDCT:266455006
MONDO:0000953	cancer of short bone of lower limb	biolink:Disease	mondo	UMLS:C0153518|ICD10:C40.3|ICD9:170.8|DOID:10151|SCTID:712525007		malignant neoplasm of short bones of leg|malignant neoplasm of short bone of lower limb	http://purl.obolibrary.org/obo/MONDO_0000953		DOID:10151|UMLS:C0153518|SNOMEDCT:712525007
MONDO:0000952	cancer of long bone of lower limb	biolink:Disease	mondo	SCTID:449627008|ICD10:C40.2|DOID:10149|ICD9:170.7|UMLS:C3265932		malignant neoplasm of long bones of leg|long bones of lower limb cancer|hindlimb long bone cancer|cancer of hindlimb long bone|malignant hindlimb long bone neoplasm|malignant neoplasm of hindlimb long bone	http://purl.obolibrary.org/obo/MONDO_0000952	A cancer that involves the hindlimb long bone.	DOID:10149|SNOMEDCT:449627008|UMLS:C3265932
MONDO:0000951	thymus lymphoma	biolink:Disease	mondo	NCIT:C6451|UMLS:C1336745|EFO:1000054|DOID:10146		lymphoma of the Thymus|Thymus lymphoma|primary thymic lymphoma|lymphoma of thymus|thymic lymphoma|lymphoma of Thymus|thymus lymphoma	http://purl.obolibrary.org/obo/MONDO_0000951	A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma.	UMLS:C1336745|NCIT:C6451|DOID:10146
MONDO:0000950	asthenopia	biolink:Disease	mondo	DOID:10141|UMLS:C0004095|ICD10:H53.14|MESH:D001248		accommodative strain	http://purl.obolibrary.org/obo/MONDO_0000950	Term generally used to describe complaints related to refractive error, ocular muscle imbalance, including pain or aching around the eyes, burning and itchiness of the eyelids, ocular fatigue, and headaches.	MESH:D001248|UMLS:C0004095|DOID:10141
MONDO:0012935	leukemia, chronic lymphocytic, susceptibility to, 4	biolink:Disease	mondo	OMIM:612558	predisposition	Clls4|leukemia, chronic lymphocytic, susceptibility to, type 4|leukemia, chronic lymphocytic, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0012935		http://identifiers.org/omim/612558
MONDO:0012936	leukemia, chronic lymphocytic, susceptibility to, 5	biolink:Disease	mondo	OMIM:612559	predisposition	Clls5|leukemia, chronic lymphocytic, susceptibility to, type 5|leukemia, chronic lymphocytic, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0012936		http://identifiers.org/omim/612559
MONDO:0012933	breast-ovarian cancer, familial, susceptibility to, 2	biolink:Disease	mondo	OMIM:612555	predisposition	susceptibility to familial breast-ovarian cancer 2|breast-ovarian cancer, familial, susceptibility to, 2; BROVCA2|breast-ovarian cancer, familial, susceptibility to, type 2|BROVCA2|BRCA2 hereditary breast ovarian cancer syndrome|breast cancer, familial, susceptibility to, 2|hereditary breast ovarian cancer syndrome caused by mutation in BRCA2|breast-ovarian cancer, familial, susceptibility to, 2|ovarian cancer, familial, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0012933	Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA2 gene.	http://identifiers.org/omim/612555
MONDO:0012934	leukemia, chronic lymphocytic, susceptibility to, 3	biolink:Disease	mondo	OMIM:612557	predisposition	Clls3|leukemia, chronic lymphocytic, susceptibility to, type 3|leukemia, chronic lymphocytic, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0012934		http://identifiers.org/omim/612557
MONDO:0012939	Diamond-Blackfan anemia 8	biolink:Disease	mondo	OMIM:612563|UMLS:C2675511|MESH:C567253		Diamond-Blackfan anemia 8; DBA8|Diamond-Blackfan anemia caused by mutation in RPS7|DBA8|Diamond-Blackfan Anemia type 8|Diamond-Blackfan anemia 8|RPS7 Diamond-Blackfan anemia	http://purl.obolibrary.org/obo/MONDO_0012939	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS7 gene.	MESH:C567253|http://identifiers.org/omim/612563|UMLS:C2675511
MONDO:0012937	Diamond-Blackfan anemia 6	biolink:Disease	mondo	OMIM:612561		Diamond-Blackfan anemia 6; DBA6|Aase-Smith syndrome 2|DBA6|Diamond-Blackfan Anemia type 6|RPL5 Diamond-Blackfan anemia|Diamond-Blackfan anemia 6|Diamond-Blackfan anemia caused by mutation in RPL5	http://purl.obolibrary.org/obo/MONDO_0012937	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL5 gene.	http://identifiers.org/omim/612561
MONDO:0012938	Diamond-Blackfan anemia 7	biolink:Disease	mondo	OMIM:612562|MESH:C567254|UMLS:C2675512		Diamond-Blackfan anemia 7; DBA7|RPL11 Diamond-Blackfan anemia|DBA7|Diamond-Blackfan anemia caused by mutation in RPL11|Diamond-Blackfan Anemia type 7|Diamond-Blackfan anemia 7	http://purl.obolibrary.org/obo/MONDO_0012938	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL11 gene.	MESH:C567254|http://identifiers.org/omim/612562|UMLS:C2675512
HGNC:4452	GPC4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4452		
HGNC:4451	GPC3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4451		
MONDO:0012942	LNCR3	biolink:Disease	mondo	UMLS:C2675497|OMIM:612571		LNCR3|lung cancer susceptibility 3|adenocarcinoma of lung, susceptibility to|lung cancer susceptibility 3; LNCR3	http://purl.obolibrary.org/obo/MONDO_0012942		http://identifiers.org/omim/612571|UMLS:C2675497
MONDO:0012943	retinitis pigmentosa 46	biolink:Disease	mondo	ICD10:H35.5|OMIM:612572|DOID:0110409|MESH:C567249|UMLS:C2675496		retinitis pigmentosa type 46|RP46|retinitis pigmentosa 46|IDH3B retinitis pigmentosa|retinitis pigmentosa 46; RP46|retinitis pigmentosa, autosomal recessive, Idh3B-related|retinitis pigmentosa caused by mutation in IDH3B	http://purl.obolibrary.org/obo/MONDO_0012943	Any retinitis pigmentosa in which the cause of the disease is a mutation in the IDH3B gene.	MESH:C567249|http://identifiers.org/omim/612572|UMLS:C2675496|DOID:0110409
MONDO:0012940	inflammatory bowel disease 24	biolink:Disease	mondo	DOID:0110908|UMLS:C2675509|OMIM:612566|MESH:C567252		inflammatory bowel disease 24; IBD24|inflammatory bowel disease type 24|inflammatory bowel disease 24|IBD24	http://purl.obolibrary.org/obo/MONDO_0012940	An inflammatory bowel disease that has material basis in variation in the chromosome 20q13.	MESH:C567252|http://identifiers.org/omim/612566|UMLS:C2675509|DOID:0110908
MONDO:0012941	inflammatory bowel disease 25	biolink:Disease	mondo	DOID:0110909|MESH:C567251|UMLS:C2675508|OMIM:612567		inflammatory bowel disease, early-onset, autosomal recessive|inflammatory bowel disease 25, autosomal recessive|IL10RB inflammatory bowel disease|early onset autosomal recessive inflammatory bowel disease 25|inflammatory bowel disease type 25|IBD25|inflammatory bowel disease caused by mutation in IL10RB|inflammatory bowel disease 25, autosomal recessive; IBD25	http://purl.obolibrary.org/obo/MONDO_0012941	Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RB gene.	MESH:C567251|http://identifiers.org/omim/612567|UMLS:C2675508|DOID:0110909
MONDO:0000946	psychologic vaginismus	biolink:Disease	mondo	ICD9:306.51|DOID:10131|ICD10:F52.5|SCTID:71787009		functional vaginismus|non-organic vaginismus|psychogenic vaginismus	http://purl.obolibrary.org/obo/MONDO_0000946	Involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause.	SNOMEDCT:71787009|DOID:10131|NCIT:C35113
MONDO:0024913	cattle disease	biolink:Disease	mondo	MESH:D002418|UMLS:C0007453		cattle disease|disease, cattle|disease, bovine|bovine disease|diseases, cattle|diseases, bovine|bovine diseases	http://purl.obolibrary.org/obo/MONDO_0024913	Diseases of domestic cattle of the genus Bos. It includes diseases of cows, yaks, and zebus.	MESH:D002418|UMLS:C0007453
MONDO:0000945	venous insufficiency (disease)	biolink:Disease	mondo	ICD9:459.81|COHD:321596|UMLS:C0042485|MESH:D014689|HP:0005293|DOID:10128|SCTID:20696009		peripheral venous insufficiency|venous insufficiency	http://purl.obolibrary.org/obo/MONDO_0000945	Impaired venous blood flow or venous return (venous stasis), usually caused by inadequate venous valves. Venous insufficiency often occurs in the legs, and is associated with edema and sometimes with venous stasis ulcers at the ankle.	DOID:10128|SNOMEDCT:20696009|MESH:D014689|UMLS:C0042485
MONDO:0024912	cat disease	biolink:Disease	mondo	MESH:D002371|UMLS:C0007350		Feline disease|diseases, Feline|diseases, Cat|cat disease|disease, Cat|Feline diseases|disease, Feline	http://purl.obolibrary.org/obo/MONDO_0024912	Diseases of the domestic cat (Felis catus or F. domesticus). This term does not include diseases of the so-called big cats such as cheetahs; lions; tigers, cougars, panthers, leopards, and other Felidae for which the heading carnivora is used.	MESH:D002371|UMLS:C0007350
MONDO:0000944	cerebral artery occlusion	biolink:Disease	mondo	ICD9:434.90|COHD:372924|ICD9:434|ICD9:434.91|SCTID:20059004|ICD9:434.9|DOID:10127			http://purl.obolibrary.org/obo/MONDO_0000944		DOID:10127|SNOMEDCT:20059004
HGNC:4458	GPI	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4458		
MONDO:0000943	acute hydrops keratoconus	biolink:Disease	mondo	DOID:10125|UMLS:C0339286|SCTID:111523009|ICD9:371.62		acute corneal hydrops|keratoconus, acute hydrops|acute hydrops of cornea	http://purl.obolibrary.org/obo/MONDO_0000943		DOID:10125|SNOMEDCT:111523009|UMLS:C0339286
HGNC:4456	GPD2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4456		
MONDO:0000949	conjunctival degeneration	biolink:Disease	mondo	DOID:10139|COHD:381580|ICD9:372.50|ICD10:H11.10|SCTID:40787005|UMLS:C0155160			http://purl.obolibrary.org/obo/MONDO_0000949		UMLS:C0155160|SNOMEDCT:40787005|DOID:10139
HGNC:4455	GPD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4455		
MONDO:0000948	xerophthalmia	biolink:Disease	mondo	DOID:10138|NCIT:C34503|ICD10:E50.7|MESH:D014985|COHD:373204|ICD10:H04.12|SCTID:363677007|UMLS:C0043349|UMLS:C3665609|ICD9:375.15		conjunctival xerosis	http://purl.obolibrary.org/obo/MONDO_0000948	Dryness of the eye due to inadequate production of tears. Causes include vitamin A deficiency, Sjogren syndrome, rheumatoid arthritis, systemic lupus erythematosus, and scleroderma.	DOID:10138|SNOMEDCT:363677007|UMLS:C0043349|UMLS:C3665609|MESH:D014985|NCIT:C34503
MONDO:0024919	dog disease	biolink:Disease	mondo	UMLS:C0012979|MESH:D004283		diseases, Dog|disease, canine|dog disease|canine disease|disease, Dog|diseases, canine|canine diseases	http://purl.obolibrary.org/obo/MONDO_0024919	Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, wolves; foxes; and other Canidae for which the heading carnivora is used.	UMLS:C0012979|MESH:D004283
HGNC:4454	GPC6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4454		
MONDO:0000947	psychosexual disorder	biolink:Disease	mondo	SCTID:56627002|ICD9:302.79|COHD:436666|DOID:10132|ICD9:302.9|ICD9:302.89		non-organic sexual dysfunction	http://purl.obolibrary.org/obo/MONDO_0000947		DOID:10132|SNOMEDCT:56627002
MONDO:0000960	diabetic peripheral angiopathy	biolink:Disease	mondo	ICD9:250.7|MESH:D003925|EFO:1000896|SCTID:127014009|DOID:10182|UMLS:C0011875|UMLS:C0011871|ICD9:443.81|NCIT:C35610|DOID:11713		diabetic angiopathy|diabetic vascular disorder	http://purl.obolibrary.org/obo/MONDO_0000960	Diabetic angiopathy is a form of angiopathy associated with diabetic complications.	MESH:D003925|NCIT:C35610|SNOMEDCT:127014009|UMLS:C0011875|UMLS:C0011871|DOID:10182|DOID:11713
MONDO:0000964	skin lipoma	biolink:Disease	mondo	ICD9:214.1|NCIT:C4616|DOID:10188|SCTID:255187008|ICD9:214.0		lipoma of the skin|skin lipoma|cutaneous lipomatous tumor|cutaneous lipoma|zone of skin lipoma|lipoma of face|lipoma of skin|lipoma of zone of skin	http://purl.obolibrary.org/obo/MONDO_0000964	A benign or malignant adipose tissue neoplasm of the skin.	NCIT:C4616|SNOMEDCT:255187008|DOID:10188
MONDO:0000963	esophageal lipoma	biolink:Disease	mondo	DOID:10187|NCIT:C5701|UMLS:C1333455		esophagus lipoma|esophageal lipoma|lipoma of esophagus|lipoma of the esophagus	http://purl.obolibrary.org/obo/MONDO_0000963	A benign adipose tissue neoplasm of the esophagus. Clinical presentation includes obstruction, dysphagia, regurgitation, vomiting and reflux. It may be associated with aspiration and consecutive respiratory infections.	UMLS:C1333455|DOID:10187|NCIT:C5701
NCBITaxon:6843	Chelicerata	organism taxon	mondo	GC_ID:1		chelicerates	http://purl.obolibrary.org/obo/NCBITaxon_6843		
MONDO:0000962	spindle cell lipoma	biolink:Disease	mondo	SCTID:404058008|UMLS:C0334474|ICDO:8857/0|DOID:10184|NCIT:C4254		spindle cell lipoma (morphologic abnormality)|spindle cell lipoma	http://purl.obolibrary.org/obo/MONDO_0000962	A benign circumscribed tumor composed of spindled cells, adipocytes, and collagen bundles. There is no evidence of nuclear hyperchromasia or mitotic activity.	UMLS:C0334474|SNOMEDCT:404058008|NCIT:C4254|DOID:10184
MONDO:0000961	endobronchial lipoma	biolink:Disease	mondo	UMLS:C0852937|DOID:10183|NCIT:C5063		endobronchial lipoma	http://purl.obolibrary.org/obo/MONDO_0000961	A rare benign adipose tissue neoplasm located within the lumen of a bronchus. It is predominantly found in males and usually originates within the fatty tissue between bronchial cartilage. May cause irreversible pulmonary damage distally. Two-thirds of the tumors occur on the right side and most are located on the first three subdivisions of the tracheobronchial tree.	NCIT:C5063|DOID:10183|UMLS:C0852937
MONDO:0012924	Diamond-Blackfan anemia 4	biolink:Disease	mondo	OMIM:612527|MESH:C567281|UMLS:C2675860		Diamond-Blackfan anemia 4; DBA4|Diamond-Blackfan Anemia type 4|RPS17 Diamond-Blackfan anemia|Diamond-Blackfan anemia 4|Diamond-Blackfan anemia caused by mutation in RPS17|DBA4	http://purl.obolibrary.org/obo/MONDO_0012924	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS17 gene.	MESH:C567281|http://identifiers.org/omim/612527|UMLS:C2675860
MONDO:0012925	Diamond-Blackfan anemia 5	biolink:Disease	mondo	UMLS:C2675859|OMIM:612528|MESH:C567280		Diamond-Blackfan anemia 5; DBA5|RPL35A Diamond-Blackfan anemia|Diamond-Blackfan anemia caused by mutation in RPL35A|Diamond-Blackfan Anemia type 5|Diamond-Blackfan anemia 5|DBA5	http://purl.obolibrary.org/obo/MONDO_0012925	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL35A gene.	MESH:C567280|http://identifiers.org/omim/612528|UMLS:C2675859
MONDO:0036915	benign ovarian mucinous tumor	biolink:Disease	mondo	NCIT:C40039|EFO:1000115|UMLS:C1511100		benign ovarian mucinous tumor|ovarian mucinous neoplasm, benign|benign ovarian mucinous neoplasm	http://purl.obolibrary.org/obo/MONDO_0036915	A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of neoplastic epithelium that resembles the epithelium of the endocervix or gastrointestinal tract. It includes mucinous adenofibroma, mucinous cystadenofibroma, and mucinous cystadenoma.	NCIT:C40039|UMLS:C1511100
MONDO:0012922	infantile hypertrophic pyloric stenosis type 5	biolink:Disease	mondo	MESH:C567283|UMLS:C2675862|OMIM:612525		pyloric stenosis, infantile hypertrophic, 5|pyloric stenosis, infantile hypertrophic, 5; IHPS5|IHPS5	http://purl.obolibrary.org/obo/MONDO_0012922		MESH:C567283|http://identifiers.org/omim/612525|UMLS:C2675862
MONDO:0012923	congenital generalized lipodystrophy type 3	biolink:Disease	mondo	DOID:0111137|ICD10:E88.1|MESH:C567282|UMLS:C2675861|OMIM:612526|GARD:0013389	gard_rare	CAV1 congenital generalized lipodystrophy (disease)|type 3 Berardinelli-Seip congenital lipodystrophy|lipodystrophy, congenital generalized, type 3; CGL3|lipodystrophy, Berardinelli-Seip congenital, type 3|BSCL3|Berardinelli-Seip congenital lipodystrophy, type 3|Berardinelli-Seip congenital lipodystrophy type 3|CGL3|lipodystrophy, congenital generalized, type 3|congenital generalized lipodystrophy (disease) caused by mutation in CAV1	http://purl.obolibrary.org/obo/MONDO_0012923	Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene.	MESH:C567282|http://identifiers.org/omim/612526|DOID:0111137|UMLS:C2675861
MONDO:0012928	hereditary spastic paraplegia 42	biolink:Disease	mondo	ICD10:G11.4|UMLS:C2675528|SCTID:763070001|DOID:0110794|MESH:C567262|OMIM:612539|Orphanet:171863	ordo_disease	autosomal dominant spastic paraplegia 42|autosomal dominant spastic paraplegia type 42|spastic paraplegia 42, autosomal dominant|SPG42|spastic paraplegia 42, autosomal dominant; SPG42|SLC33A1 autosomal dominant pure spastic paraplegia|autosomal dominant pure spastic paraplegia caused by mutation in SLC33A1|hereditary spastic paraplegia type 42	http://purl.obolibrary.org/obo/MONDO_0012928	Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging.	DOID:0110794|SNOMEDCT:763070001|ORPHA:171863|MESH:C567262|http://identifiers.org/omim/612539|UMLS:C2675528
MONDO:0012929	Compton-North congenital myopathy	biolink:Disease	mondo	ICD10:G71.2|MESH:C567261|Orphanet:210163|OMIM:612540|UMLS:C2675527|DOID:0080101	ordo_disease	congenital lethal myopathy, Compton-North type|myopathy, congenital, Compton-NORTH; MYPCN|myopathy, congenital, Compton-NORTH|MYPCN	http://purl.obolibrary.org/obo/MONDO_0012929		ORPHA:210163|MESH:C567261|DOID:0080101|http://identifiers.org/omim/612540|UMLS:C2675527
MONDO:0036918	punctate acrokeratoderma freckle-like pigmentation	biolink:Disease	mondo	Orphanet:99710	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0036918		ORPHA:99710
MONDO:0012926	amelogenesis imperfecta hypomaturation type 2A2	biolink:Disease	mondo	MESH:C567279|ICD10:K00.5|OMIM:612529|UMLS:C2675858|DOID:0110060		AI2A2|amelogenesis imperfecta pigmented hypomaturation type 2|MMP20 amelogenesis imperfecta|amelogenesis imperfecta caused by mutation in MMP20|amelogenesis imperfecta, hypomaturation type, IIA2|amelogenesis imperfecta, pigmented hypomaturation type, 2|amelogenesis imperfecta, hypomaturation type, IIA2; AI2A2|amelogenesis imperfecta hypomaturation type IIA2|amelogenesis imperfecta type IIA2	http://purl.obolibrary.org/obo/MONDO_0012926	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the MMP20 gene.	UMLS:C2675858|MESH:C567279|http://identifiers.org/omim/612529|DOID:0110060
MONDO:0012927	chromosome 1q41-q42 deletion syndrome	biolink:Disease	mondo	ICD10:Q93.5|OMIM:612530|Orphanet:250999|GARD:0003738|SCTID:716515000|UMLS:C4274528|UMLS:C2675857|DOID:0060412	gard_rare|ordo_malformation_syndrome	holoprosencephaly 10|chromosome 1q41-q42 deletion syndrome|1q41q42 microdeletion syndrome|Del(1)(q41q42)|monosomy 1q41-q42|1q41-q42 deletion syndrome|deletion 1q41-q42|1q41-q42 microdeletion syndrome|monosomy 1q41q42	http://purl.obolibrary.org/obo/MONDO_0012927	1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.	UMLS:C2675857|DOID:0060412|ORPHA:250999|UMLS:C4274528|http://identifiers.org/omim/612530|SNOMEDCT:716515000
MONDO:0012931	focal segmental glomerulosclerosis 4, susceptibility to	biolink:Disease	mondo	OMIM:612551	predisposition	focal segmental glomerulosclerosis caused by mutation in APOL1|focal segmental glomerulosclerosis 4, susceptibility to|focal segmental glomerulosclerosis 4, susceptibility to; FSGS4|APOL1 focal segmental glomerulosclerosis|FSGS4|end-stage renal disease, nondiabetic, susceptibility to|susceptibility to focal segmental glomerulosclerosis 4	http://purl.obolibrary.org/obo/MONDO_0012931	Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the APOL1 gene.	http://identifiers.org/omim/612551
MONDO:0012932	MYP16	biolink:Disease	mondo	MESH:C567259|OMIM:612554|UMLS:C2675523		myopia 16, autosomal dominant|myopia 16, autosomal dominant; MYP16|MYP16	http://purl.obolibrary.org/obo/MONDO_0012932		MESH:C567259|http://identifiers.org/omim/612554|UMLS:C2675523
MONDO:0012930	autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	biolink:Disease	mondo	Orphanet:331176|UMLS:C2675526|OMIM:612541|ICD10:D70	ordo_disease	pulmonary arterial hypertension, leukopenia, and atrial septal defect|severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome|SCN4|severe congenital neutropenia type 4|Dursun syndrome|neutropenia, severe congenital, 4, autosomal recessive; SCN4|neutropenia, severe congenital, 4, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0012930		http://identifiers.org/omim/612541|UMLS:C2675526|ORPHA:331176
MONDO:0000957	lacrimal passage granuloma	biolink:Disease	mondo	DOID:10174|SCTID:417563003|ICD10:H04.81|UMLS:C0155253|ICD9:375.81		granuloma of lacrimal passages	http://purl.obolibrary.org/obo/MONDO_0000957		DOID:10174|SNOMEDCT:417563003|UMLS:C0155253
MONDO:0000956	small intestine cancer	biolink:Disease	mondo	ICD10:C17.9|DOID:10154|ICD9:152.9|GARD:0009385|NCIT:C7523|ICD10:C17|UMLS:C0153425	gard_rare	malignant tumor of small bowel|malignant neoplasm of the small intestine|malignant small bowel neoplasm|malignant small intestine tumor|malignant small intestine neoplasm|small intestine cancer|malignant tumor of the small intestine|malignant tumor of small intestine|malignant neoplasm of the small bowel|malignant neoplasms of the small intestine|small bowel tumors|malignant neoplasm of small bowel|malignant small bowel tumor|cancer of small intestine|malignant small intestinal neoplasm|malignant tumor of the small bowel|malignant neoplasm of small intestine	http://purl.obolibrary.org/obo/MONDO_0000956	A primary or metastatic malignant neoplasm involving the small intestine.	DOID:10154|UMLS:C0153425|NCIT:C7523
MONDO:0000955	ileum cancer	biolink:Disease	mondo	DOID:10153|ICD10:C17.2|ICD9:152.2		cancer of ileum|ileum cancer|malignant ileum neoplasm|ileal neoplasm|malignant neoplasm of ileum	http://purl.obolibrary.org/obo/MONDO_0000955	A malignant neoplasm involving the ileum	DOID:10153
MONDO:0000954	Meckel diverticulum cancer	biolink:Disease	mondo	UMLS:C0153429|DOID:10152|ICD9:152.3|SCTID:187752007		malignant neoplasm of Meckel's diverticulum|Meckel's diverticulum cancer|malignant Meckel's diverticulum neoplasm|Meckel diverticulum cancer|cancer of Meckel's diverticulum	http://purl.obolibrary.org/obo/MONDO_0000954	A cancer involving a Meckel's diverticulum.	DOID:10152|UMLS:C0153429|SNOMEDCT:187752007
MONDO:0024905	bird disease	biolink:Disease	mondo	MESH:D001715|UMLS:C0005591		disease, Avian|Avian disease|bird disease|disease, Bird|diseases, Avian|Avian diseases|diseases, Bird	http://purl.obolibrary.org/obo/MONDO_0024905	Diseases of birds not considered poultry, therefore usually found in zoos, parks, and the wild. The concept is differentiated from poultry diseases which is for birds raised as a source of meat or eggs for human consumption, and usually found in barnyards, hatcheries, etc.	UMLS:C0005591|MESH:D001715
MONDO:0000959	malignant hypertensive renal disease	biolink:Disease	mondo	DOID:10177|SCTID:65443008|ICD9:403.00|COHD:442766|UMLS:C0155593			http://purl.obolibrary.org/obo/MONDO_0000959		UMLS:C0155593|SNOMEDCT:65443008|DOID:10177
MONDO:0000958	neuroretinitis	biolink:Disease	mondo	DOID:10176|ICD9:363.05|ICD10:H30.9|UMLS:C0154874|COHD:432630		focal retinitis and retinochoroiditis, juxtapapillary|Juxtapapillary focal retinitis and retinochoroiditis|papilloretinitis	http://purl.obolibrary.org/obo/MONDO_0000958	Neuroretinitis is an inflammation of the neural retina and optic nerve. Pathology: Direct invasion or autoimmune activation against the optic nerve may cause optic nerve vascular inflammation with secondary inflammation and edema in the nerve fiber layer of the retina.	DOID:10176|UMLS:C0154874
MONDO:0012919	type 1 diabetes mellitus 20	biolink:Disease	mondo	ICD10:E10|DOID:0110757|UMLS:C2675866|MESH:C567286|OMIM:612520		insulin-dependent diabetes mellitus 20|type 1 diabetes mellitus caused by mutation in HNF1A|diabetes mellitus, insulin-dependent, 20|diabetes mellitus, insulin-dependent, 20; IDDM20|diabetes mellitus, insulin-dependent, type 20|IDDM20|HNF1A type 1 diabetes mellitus	http://purl.obolibrary.org/obo/MONDO_0012919	Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the HNF1A gene.	UMLS:C2675866|DOID:0110757|MESH:C567286|http://identifiers.org/omim/612520
MONDO:0000931	endometrial disease	biolink:Disease	mondo	SCTID:418632009|DOID:1005|NCIT:C3504		disorder of endometrium|endometrium disease|endometrial disorder|disease or disorder of endometrium|disease of endometrium|endometrium disease or disorder	http://purl.obolibrary.org/obo/MONDO_0000931	A non-neoplastic or neoplastic disorder that affects the endometrium. Representative examples include endometritis, endometrial hyperplasia, and endometrial carcinoma.	DOID:1005|NCIT:C3504|SNOMEDCT:418632009
MONDO:0000930	nodular malignant melanoma	biolink:Disease	mondo	SCTID:254731001|DOID:10047|GARD:0009961|NCIT:C4225|UMLS:C0334424|EFO:0008515|ICDO:8721/3		nodular cutaneous (skin) melanoma|nodular malignant skin melanoma|nodular malignant melanoma of skin|nodular malignant melanoma of the skin|nodular melanoma|nodular melanoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0000930	An aggressive form of melanoma, frequently metastasizing to the lymph nodes. It presents as a papular or nodular raised skin lesion. It comprises approximately 10-15% of melanomas. Morphologically, it often displays an epithelioid appearance.	DOID:10047|NCIT:C4225|UMLS:C0334424|SNOMEDCT:254731001
MONDO:0012913	Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome	biolink:Disease	mondo	NCIT:C122804|UMLS:C2675904|MESH:C567292|OMIM:612469		WAGR syndrome with obesity|Wagro syndrome|Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome|chromosome 11P13-p12 deletion syndrome|Wilms tumor-aniridia-genitourinary anomalies-mental retardation-obesity syndrome|Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome|Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome; WAGRO|Wilms tumor-aniridia-genitourinary anomalies-intellectual disability-obesity syndrome|WAGRO|Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome; WAGRO	http://purl.obolibrary.org/obo/MONDO_0012913	A sub-phenotype of WAGR that includes obesity, and is associated with mutation(s) in the BDNF gene.	UMLS:C2675904|MESH:C567292|NCIT:C122804|http://identifiers.org/omim/612469
MONDO:0012914	chromosome 1q21.1 deletion syndrome	biolink:Disease	mondo	ICD10:Q93.5|ICD9:758.33|Orphanet:250989|OMIM:612474|GARD:0010813|SCTID:699305004|DOID:0060411	ordo_malformation_syndrome	Del(1)(q21)|chromosome 1q21.1 deletion syndrome, 1.35-MB|1q21.1 microdeletion syndrome|monosomy 1q21.1|chromosome 1q21.1 microdeletion syndrome|1q21.1 microdeletion	http://purl.obolibrary.org/obo/MONDO_0012914	1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.	DOID:0060411|ORPHA:250989|SNOMEDCT:699305004|http://identifiers.org/omim/612474
MONDO:0012911	pseudohypoparathyroidism type 1C	biolink:Disease	mondo	ICD10:E20.1|GARD:0010681|MESH:C548076|Orphanet:79444|UMLS:C2932716|SCTID:717792007|OMIM:612462	ordo_disease|gard_rare	PHP1C|pseudohypoparathyroidism, type 1C|pseudohypoparathyroidism, type IC; PHP1C|Php 1C|pseudohypoparathyroidism, type IC	http://purl.obolibrary.org/obo/MONDO_0012911	Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha).	ORPHA:79444|UMLS:C2932716|SNOMEDCT:717792007|http://identifiers.org/omim/612462|MESH:C548076
MONDO:0012912	pseudopseudohypoparathyroidism	biolink:Disease	mondo	SCTID:237659007|ICD10:E20.1|ICD9:275.49|OMIM:612463|Orphanet:665|Orphanet:79445|GARD:0007860|DOID:4183|MESH:D011556|UMLS:C0033835|NCIT:C129722	ordo_disease|gard_rare	Albright hereditary osteodystrophy-PPHP syndrome|pseudopseudohypoparathyroidism|PPHP|pseudopseudohypoparathyroidism; PPHP|Normocalcemic pseudohypoparathyroidism (disorder) [ambiguous]|Albright hereditary osteodystrophy without multiple hormone resistance|Pseudopseudo-hypoparathyroidism|aho-PPHP syndrome|Albright Hereditary osteodystrophy with Multiple hormone Resistance|pseudo-pseudohypoparathyroidism|Normocalcemic pseudohypoparathyroidism	http://purl.obolibrary.org/obo/MONDO_0012912	Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP).	ORPHA:79445|MESH:D011556|UMLS:C0033835|SNOMEDCT:237659007|http://identifiers.org/omim/612463|DOID:4183|NCIT:C129722|ORPHA:665
MONDO:0012917	specific language impairment 4	biolink:Disease	mondo	MESH:C567288|UMLS:C2675874|OMIM:612514		specific language impairment 4|specific language impairment 4; SLI4|SLI4	http://purl.obolibrary.org/obo/MONDO_0012917		UMLS:C2675874|MESH:C567288|http://identifiers.org/omim/612514
MONDO:0012918	primary ciliary dyskinesia 10	biolink:Disease	mondo	DOID:0110612|MESH:C567287|OMIM:612518|ICD10:Q34.8|UMLS:C2675867		ciliary dyskinesia, primary, 10; CILD10|ciliary dyskinesia, primary, type 10|primary ciliary dyskinesia caused by mutation in DNAAF2|CILD10|ciliary dyskinesia, primary, 10|primary ciliary dyskinesia type 10|DNAAF2 primary ciliary dyskinesia|ciliary dyskinesia, primary, 10, with or without situs inversus|primary ciliary dyskinesia 10 with or without situs inversus	http://purl.obolibrary.org/obo/MONDO_0012918	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF2 gene.	UMLS:C2675867|DOID:0110612|MESH:C567287|http://identifiers.org/omim/612518
MONDO:0012915	chromosome 1q21.1 duplication syndrome	biolink:Disease	mondo	Orphanet:250994|GARD:0010591|OMIM:612475|UMLS:C2675891|MESH:C567290|DOID:0060435|ICD10:Q92.3	ordo_malformation_syndrome|gard_rare	chromosome 1q21.1 duplication syndrome|trisomy 1q21.1|dup(1)(q21.1)|1q21.1 microduplication syndrome	http://purl.obolibrary.org/obo/MONDO_0012915	Chromosome 1q21.1 duplication syndrome is a rare condition caused by the presence of an extra copy of a small piece of chromosome 1 in the cells of the body. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms, while others may have features such as a large head size (macrocephaly); mild to moderate developmental delay and learning difficulties; autism or autistic-like behavior; heart problems; seizures; and/or and distinctive facial features. This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent. Treatment depends on the signs and symptoms present in each individual.	UMLS:C2675891|DOID:0060435|ORPHA:250994|MESH:C567290|http://identifiers.org/omim/612475
MONDO:0012916	chromosome 2p16.1-p15 deletion syndrome	biolink:Disease	mondo	UMLS:C2675875|OMIM:612513|MESH:C567289|Orphanet:261349|SCTID:719651000|UMLS:C4304538|DOID:0060415|ICD10:Q93.5|GARD:0013391	ordo_malformation_syndrome	2p15-p16.1 microdeletion syndrome|monosomy 2p15-p16.1|monosomy 2p15p16.1|Del(2)(p15p16.1)|chromosome 2p16.1-p15 deletion syndrome|2p15p16.1 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0012916	2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.	UMLS:C4304538|UMLS:C2675875|DOID:0060415|SNOMEDCT:719651000|ORPHA:261349|MESH:C567289|http://identifiers.org/omim/612513
MONDO:0000929	balloon cell malignant melanoma	biolink:Disease	mondo	SCTID:403922007|ICDO:8722/3|DOID:10044|UMLS:C0334426|NCIT:C4227		balloon cell cutaneous (skin) melanoma|balloon cell skin melanoma|balloon cell malignant skin melanoma|balloon cell malignant melanoma of skin|balloon cell malignant melanoma of the skin|balloon cell melanoma	http://purl.obolibrary.org/obo/MONDO_0000929	A rare variant of melanoma with a vertical growth phase. It presents as a nodular or polypoid skin lesion. It is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm. The prognosis is similar to that of other melanomas matched for depth of invasion.	SNOMEDCT:403922007|DOID:10044|NCIT:C4227|UMLS:C0334426
MONDO:0012920	type 1 diabetes mellitus 21	biolink:Disease	mondo	MESH:C567285|OMIM:612521|DOID:0110758|ICD10:E10|UMLS:C2675865		IDDM21|insulin-dependent diabetes mellitus 21|diabetes mellitus, insulin-dependent, 21|diabetes mellitus, insulin-dependent, 21; IDDM21	http://purl.obolibrary.org/obo/MONDO_0012920	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q25.	DOID:0110758|MESH:C567285|http://identifiers.org/omim/612521|UMLS:C2675865
MONDO:0012921	type 1 diabetes mellitus 22	biolink:Disease	mondo	UMLS:C2675864|MESH:C567284|OMIM:612522|DOID:0110759|ICD10:E10		diabetes mellitus, insulin-dependent, type 22|CCR5 type 1 diabetes mellitus|type 1 diabetes mellitus caused by mutation in CCR5|insulin-dependent diabetes mellitus 22|diabetes mellitus, insulin-dependent, 22|diabetes mellitus, insulin-dependent, 22; IDDM22|IDDM22	http://purl.obolibrary.org/obo/MONDO_0012921	Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the CCR5 gene.	DOID:0110759|MESH:C567284|http://identifiers.org/omim/612522|UMLS:C2675864
MONDO:0000924	compensatory emphysema	biolink:Disease	mondo	UMLS:C0155918|SCTID:33325001|DOID:10031|COHD:261895|ICD10:J98.3|ICD9:518.2			http://purl.obolibrary.org/obo/MONDO_0000924		SNOMEDCT:33325001|UMLS:C0155918|DOID:10031
MONDO:0000923	interstitial emphysema	biolink:Disease	mondo	ICD9:518.1|UMLS:C1370824|NCIT:C34571|SCTID:77690003|DOID:10030|ICD10:J98.2		pie|pulmonary interstitial emphysema|interstitial emphysema of lung	http://purl.obolibrary.org/obo/MONDO_0000923	Pathologic accumulation of air in the interstitium of the lungs, which is caused by the rupture of alveoli and terminal bronchioles, and is most often seen in premature infants that need mechanical ventilation for respiratory distress syndrome.	DOID:10030|UMLS:C1370824|SNOMEDCT:77690003|NCIT:C34571
MONDO:0000922	pelvic inflammatory disease	biolink:Disease	mondo	NCIT:C3889|ICD9:614-616.99|SCTID:198130006|ICD9:614.9|ICD10:N70-N77|ICD9:614.8|EFO:1001388|MESH:D000292|ICD10:N73.9|DOID:1003|UMLS:C0242172		disease (PID), pelvic inflammatory|inflammatory disease (PID), pelvic|pelvic infection|PID|pelvic inflammatory disease|pelvic inflammatory disease, (PID)|PID, pelvic inflammatory disease	http://purl.obolibrary.org/obo/MONDO_0000922	Pelvic inflammatory disease (PID) is an acute or chronic inflammation in the pelvic cavity. It is most commonly caused by sexually transmitted diseases, including chlamydia and gonorrhea that have ascended into the uterus, fallopian tubes, or ovaries as a result of intercourse or childbirth, or of surgical procedures, including insertion of IUDs or abortion. PID may be either symptomatic or asymptomatic. It may cause infertility and it may raise the risk of ectopic pregnancy. PID is a disease associated with HIV infection.	DOID:1003|SNOMEDCT:198130006|UMLS:C0242172|NCIT:C3889|MESH:D000292
MONDO:0000921	ampulla of vater neoplasm	biolink:Disease	mondo	UMLS:C0345916|NCIT:C4443|SCTID:126858004|ONCOTREE:AMPULLAOFVATER|DOID:10022		tumor of hepatopancreatic ampulla|hepatopancreatic ampulla neoplasm|neoplasm of ampulla of Vater|ampulla of Vater tumor|neoplasm of the ampulla of Vater|AMPULLAOFVATER|tumor of the ampulla of Vater|hepatopancreatic ampulla neoplasm (disease)|neoplasm of hepatopancreatic ampulla|hepatopancreatic ampulla tumor|tumor of ampulla of Vater	http://purl.obolibrary.org/obo/MONDO_0000921	A benign or malignant neoplasm involving the ampulla of Vater.	DOID:10022|NCIT:C4443|SNOMEDCT:126858004|UMLS:C0345916
MONDO:0000928	eyelid melanoma	biolink:Disease	mondo	UMLS:C0339116|NCIT:C4358|SCTID:231834005|ICD9:172.1|DOID:10040		malignant melanoma of eyelid|malignant melanoma of the eyelid|melanoma of eyelid|melanoma of the eyelid|melanoma (disease) of eyelid|eyelid melanoma (disease)|eyelid melanoma|malignant eyelid melanoma	http://purl.obolibrary.org/obo/MONDO_0000928	A melanoma that arises from the upper or lower eyelid.	UMLS:C0339116|SNOMEDCT:231834005|DOID:10040|NCIT:C4358
MONDO:0000927	asymptomatic neurosyphilis	biolink:Disease	mondo	COHD:376335|ICD9:094.3|ICD10:A52.2|DOID:10035|SCTID:37754005|UMLS:C0153167			http://purl.obolibrary.org/obo/MONDO_0000927		SNOMEDCT:37754005|DOID:10035|UMLS:C0153167
MONDO:0000926	eye accommodation disease	biolink:Disease	mondo	ICD10:H52.5|SCTID:54552008|DOID:10034|ICD9:367.5|UMLS:C0152198		disorder of accommodation	http://purl.obolibrary.org/obo/MONDO_0000926	Disease that disrupts the process by which the vertebrate eye changes optical power to maintain a clear image or focus on an object as its distance varies.	DOID:10034|UMLS:C0152198|SNOMEDCT:54552008
MONDO:0000925	hyperlucent lung	biolink:Disease	mondo	UMLS:C0524799|MESH:D019568|DOID:10032			http://purl.obolibrary.org/obo/MONDO_0000925	A lung with reduced markings on its chest radiograph and increased areas of transradiancy (hyperlucency). A hyperlucent lung is usually associated with pulmonary emphysema or pneumothorax.	UMLS:C0524799|MESH:D019568|DOID:10032
MONDO:0012908	complement component 6 deficiency	biolink:Disease	mondo	ICD10:D84.1|DOID:0060299|OMIM:612446|UMLS:C2676232		complement component 6 deficiency; C6D|complement component 6 deficiency, subtotal|C6 deficiency|C6D|complement component 6 deficiency|classic complement early component deficiency caused by mutation in C6|C6 deficiency, subtotal|C6 classic complement early component deficiency	http://purl.obolibrary.org/obo/MONDO_0012908	Any classic complement early component deficiency in which the cause of the disease is a mutation in the C6 gene.	UMLS:C2676232|http://identifiers.org/omim/612446|DOID:0060299
MONDO:0012909	skeletal defects, genital hypoplasia, and mental retardation	biolink:Disease	mondo	MESH:C567306|OMIM:612447|UMLS:C2676231		skeletal defects, genital hypoplasia, and mental retardation|skeletal defects, genital hypoplasia, and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0012909		MESH:C567306|UMLS:C2676231|http://identifiers.org/omim/612447
MONDO:0000942	corneal disease	biolink:Disease	mondo	ICD10:H18.9|DOID:10124|ICD9:371.89|MESH:D003316|SCTID:15250008|ICD9:371.9|ICD9:371.30|UMLS:C0010034|NCIT:C26731		disorder of cornea|disease or disorder of cornea|disease of cornea|cornea disease|corneal disorder|corneal disease|cornea disease or disorder	http://purl.obolibrary.org/obo/MONDO_0000942	A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma.	DOID:10124|NCIT:C26731|MESH:D003316|SNOMEDCT:15250008|UMLS:C0010034
MONDO:0000941	eyelid degenerative disease	biolink:Disease	mondo	ICD9:374.50|UMLS:C0155209|DOID:10120|SCTID:1112003		eyelid neurodegenerative disease|neurodegenerative disease of eyelid	http://purl.obolibrary.org/obo/MONDO_0000941	A neurodegenerative disease that involves the eyelid.	DOID:10120|SNOMEDCT:1112003|UMLS:C0155209
MONDO:0000940	trypanosomiasis	biolink:Disease	mondo	DOID:10113|ICD10:B57.2|ICD9:086.9|ICD9:086|SCTID:78940002|MESH:D014352|UMLS:C0041227|ICD10:B56		Trypanosoma infectious disease|Trypanosoma caused disease or disorder|Trypanosoma disease or disorder|Trypanosomiases	http://purl.obolibrary.org/obo/MONDO_0000940	Infection with protozoa of the genus trypanosoma.	DOID:10113|MESH:D014352|UMLS:C0041227|SNOMEDCT:78940002
MONDO:0012902	autosomal dominant nonsyndromic deafness 27	biolink:Disease	mondo	OMIM:612431|DOID:0110556|ICD10:H90.3		autosomal dominant nonsyndromic deafness type 27|DFNA27|autosomal dominant deafness 27|deafness, autosomal dominant 27; DFNA27|deafness, autosomal dominant 27	http://purl.obolibrary.org/obo/MONDO_0012902	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.1.	DOID:0110556|http://identifiers.org/omim/612431
MONDO:0012903	autosomal recessive nonsyndromic deafness 45	biolink:Disease	mondo	DOID:0110502|ICD10:H90.3|OMIM:612433		DFNB45|deafness, autosomal recessive 45; DFNB45|autosomal recessive nonsyndromic deafness type 45|deafness, autosomal recessive 45|autosomal recessive deafness 45	http://purl.obolibrary.org/obo/MONDO_0012903	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1q43-q44.	DOID:0110502|http://identifiers.org/omim/612433
MONDO:0012900	cardiomyopathy, familial restrictive, 3	biolink:Disease	mondo	OMIM:612422|DOID:0111427|MESH:C567316|UMLS:C2676271		RCM3|cardiomyopathy, familial restrictive, 3; RCM3|familial isolated restrictive cardiomyopathy caused by mutation in TNNT2|TNNT2 familial isolated restrictive cardiomyopathy|cardiomyopathy, familial restrictive, type 3|cardiomyopathy, familial restrictive, 3	http://purl.obolibrary.org/obo/MONDO_0012900	Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.	DOID:0111427|MESH:C567316|UMLS:C2676271|http://identifiers.org/omim/612422
MONDO:0012901	inherited prekallikrein deficiency	biolink:Disease	mondo	ICD10:D68.8|GARD:0004477|Orphanet:749|ICD9:286.9|MESH:C562725|OMIM:612423	ordo_disease|gard_rare	hereditary prekallikrein deficiency|prekallikrein deficiency|congenital prekallikrein deficiency|prekallikrein deficiency, congenital|Fletcher Factor deficiency|PKK deficiency	http://purl.obolibrary.org/obo/MONDO_0012901	An instance of prekallikrein deficiency that is caused by an inherited modification of the individual's genome.	ORPHA:749|MESH:C562725|http://identifiers.org/omim/612423
MONDO:0012906	primary ciliary dyskinesia 9	biolink:Disease	mondo	OMIM:612444|DOID:0110622|MESH:C567310|ICD10:Q34.8|UMLS:C2676235		ciliary dyskinesia, primary, type 9|CILD9|ciliary dyskinesia, primary, 9|DNAI2 primary ciliary dyskinesia|primary ciliary dyskinesia caused by mutation in DNAI2|primary ciliary dyskinesia 9 with or without situs inversus|ciliary dyskinesia, primary, 9, with or without situs inversus|primary ciliary dyskinesia type 9|ciliary dyskinesia, primary, 9; CILD9	http://purl.obolibrary.org/obo/MONDO_0012906	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI2 gene.	http://identifiers.org/omim/612444|DOID:0110622|MESH:C567310|UMLS:C2676235
MONDO:0012907	blindness - scoliosis - arachnodactyly syndrome	biolink:Disease	mondo	SCTID:717920004|MESH:C567309|UMLS:C2676234|OMIM:612445|Orphanet:171844	ordo_malformation_syndrome	scoliosis, arachnodactyly, and blindness	http://purl.obolibrary.org/obo/MONDO_0012907	This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes.	http://identifiers.org/omim/612445|SNOMEDCT:717920004|ORPHA:171844|MESH:C567309|UMLS:C2676234
MONDO:0012904	epilepsy, progressive myoclonic, 1B	biolink:Disease	mondo	SCTID:702326000|ICD9:345.10|DOID:0111448|MESH:C580388|UMLS:C2676254|OMIM:612437		epilepsy, progressive myoclonic, 1B; EPM1B|EPM1B|epilepsy, progressive myoclonic, type 1B|epilepsy, progressive myoclonic, 1B|PRICKLE1 progressive myoclonic epilepsy|progressive myoclonic epilepsy caused by mutation in PRICKLE1	http://purl.obolibrary.org/obo/MONDO_0012904	Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the PRICKLE1 gene.	DOID:0111448|MESH:C580388|UMLS:C2676254|http://identifiers.org/omim/612437|SNOMEDCT:702326000
MONDO:0012905	hypomyelinating leukodystrophy 6	biolink:Disease	mondo	MESH:C567314|OMIM:612438|Orphanet:139441|GARD:0010917|ICD10:E75.2|DOID:0060798|UMLS:C2676244	ordo_disease	HABC|hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum|leukodystrophy, hypomyelinating, 6; HLD6|leukodystrophy, hypomyelinating, 6|hypomyelination with atrophy of basal ganglia and cerebellum|leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum|HLD6|leukodystrophy, hypomyelinating, type 6|H-ABC|hypomyelinating leukodystrophy type 6	http://purl.obolibrary.org/obo/MONDO_0012905	Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.	ORPHA:139441|DOID:0060798|MESH:C567314|UMLS:C2676244|http://identifiers.org/omim/612438
MONDO:0012910	age-related hearing impairment 1	biolink:Disease	mondo	OMIM:612448|MESH:C567305|UMLS:C2676230		age-related hearing impairment 1|presbycusis 1|age-related hearing impairment 1; ARHI1|ARHI1	http://purl.obolibrary.org/obo/MONDO_0012910		MESH:C567305|UMLS:C2676230|http://identifiers.org/omim/612448
MONDO:0000935	larynx squamous papilloma	biolink:Disease	mondo	NCIT:C7742|UMLS:C0240164|DOID:10071		squamous papilloma of larynx|squamous papilloma of the larynx|larynx papilloma|papilloma of larynx|papilloma of the larynx|larynx squamous papilloma|laryngeal papilloma	http://purl.obolibrary.org/obo/MONDO_0000935	A benign exophytic neoplasm that arises from the larynx, usually the true vocal cords. It is related to human papillomavirus infection and may arise as a single or multiple lesions. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium. Hoarseness is the presenting symptom. Transformation to carcinoma is rare.	NCIT:C7742|DOID:10071|UMLS:C0240164
MONDO:0000934	laryngeal leiomyoma	biolink:Disease	mondo	NCIT:C6027|UMLS:C1334370|DOID:10070		laryngeal leiomyoma|leiomyoma of larynx|leiomyoma of the larynx|larynx leiomyoma	http://purl.obolibrary.org/obo/MONDO_0000934	A benign smooth muscle neoplasm arising from the larynx. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	NCIT:C6027|DOID:10070|UMLS:C1334370
MONDO:0000933	subglottis neoplasm	biolink:Disease	mondo	DOID:10069|SCTID:126696001|UMLS:C0345746|NCIT:C4426		subglottis neoplasm (disease)|tumor of subglottis|subglottic neoplasm|subglottis neoplasm|neoplasm of the subglottis|neoplasm of subglottis|subglottic tumor|subglottis tumor|tumor of the subglottis	http://purl.obolibrary.org/obo/MONDO_0000933	A benign or malignant neoplasm that affects the subglottic area of the larynx.	DOID:10069|SNOMEDCT:126696001|NCIT:C4426|UMLS:C0345746
MONDO:0000932	obsolete skin amelanotic melanoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000932		
MONDO:0000939	intracranial abscess	biolink:Disease	mondo	SCTID:27614006|ICD9:324.0|UMLS:C0021874|COHD:435509|DOID:10095|NCIT:C34734			http://purl.obolibrary.org/obo/MONDO_0000939	An abscess that is located in the intracranial space.	NCIT:C34734|SNOMEDCT:27614006|DOID:10095|UMLS:C0021874
MONDO:0000938	gastric leiomyoma	biolink:Disease	mondo	UMLS:C0238440|NCIT:C3876|DOID:10087|SCTID:276812001		gastric leiomyoma|leiomyoma of stomach|stomach leiomyoma|leiomyoma of the stomach	http://purl.obolibrary.org/obo/MONDO_0000938	A rare benign smooth muscle neoplasm arising from the wall of the stomach. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. Unlike gastrointestinal stromal tumors, gastric leiomyomas are by definition negative for CD34 and CD117 (C-KIT).	SNOMEDCT:276812001|DOID:10087|NCIT:C3876|UMLS:C0238440
MONDO:0000937	syphilitic encephalitis	biolink:Disease	mondo	UMLS:C0153168|SCTID:26135000|ICD9:094.81|DOID:10081		Treponema caused encephalitis|Treponema encephalitis	http://purl.obolibrary.org/obo/MONDO_0000937	An encephalitis caused by infection with Treponema.	DOID:10081|UMLS:C0153168|SNOMEDCT:26135000
MONDO:0000936	syphilitic meningitis	biolink:Disease	mondo	UMLS:C0153166|GARD:0008731|MESH:C536775|COHD:441228|DOID:10073|ICD9:094.2|SCTID:301086002		meningitis, syphilitic|Treponema infectious meningitis|syphilitic aseptic meningitis|meningeal syphilis|Treponema caused infectious meningitis	http://purl.obolibrary.org/obo/MONDO_0000936	An infectious meningitis caused by infection with Treponema.	SNOMEDCT:301086002|MESH:C536775|UMLS:C0153166|DOID:10073
MONDO:0000993	prostate squamous cell carcinoma	biolink:Disease	mondo	NCIT:C5536|ONCOTREE:PRSC|UMLS:C1302530|SCTID:399590005|DOID:10287		squamous cell carcinoma of prostate|prostate gland squamous cell carcinoma|prostate squamous cell carcinoma|squamous cell carcinoma of the prostate|PRSC	http://purl.obolibrary.org/obo/MONDO_0000993	An invasive prostate carcinoma characterized by the presence of squamous differentiation of the malignant cellular infiltrate. There is no evidence of glandular differentiation.	UMLS:C1302530|SNOMEDCT:399590005|NCIT:C5536|DOID:10287
MONDO:0000992	heart conduction disease	biolink:Disease	mondo	ICD9:426.6|SCTID:44808001|DOID:10273		disease of cardiac conduction|conduction disease of heart|cardiac conduction disorder|cardiac conduction disease|heart rhythm disease|disorder of cardiac conduction	http://purl.obolibrary.org/obo/MONDO_0000992	A disease that has its basis in the disruption of the heart's electrical conduction system.	DOID:10273|SNOMEDCT:44808001
MONDO:0000991	left bundle branch block	biolink:Disease	mondo	SCTID:63467002|ICD9:426.2|SCTID:4973001|ICD10:I44.60|UMLS:C0155702|DOID:10272|COHD:313209		left bundle branch hemiblock|left bundle branch [block] or [hemiblock]	http://purl.obolibrary.org/obo/MONDO_0000991	A bundle branch block in which the activation of the left ventricle is delayed.	SNOMEDCT:63467002|UMLS:C0155702|DOID:10272|SNOMEDCT:4973001
MONDO:0000990	acute subendocardial myocardial infarction	biolink:Disease	mondo	SCTID:70422006|ICD9:410.70|ICD9:410.72|ICD9:410.71|DOID:10266|UMLS:C0264710|ICD9:410.7		subendocardial infarction acute myocardial infarction|acute subendocardial infarction|subendocardial myocardial infarction, acute|acute nontransmural infarction	http://purl.obolibrary.org/obo/MONDO_0000990	Acute form of subendocardial myocardial infarction.	UMLS:C0264710|DOID:10266|SNOMEDCT:70422006
MONDO:0000997	monocular esotropia	biolink:Disease	mondo	DOID:10293|ICD9:378.01|UMLS:C0152204|COHD:375285|SCTID:5455000|ICD10:H50.01			http://purl.obolibrary.org/obo/MONDO_0000997	A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a 'cross-eye' appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze.	SNOMEDCT:5455000|DOID:10293|UMLS:C0152204
MONDO:0000996	prostate lymphoma	biolink:Disease	mondo	DOID:10290|UMLS:C1335512|NCIT:C5533		primary prostate lymphoma|prostate lymphoma|lymphoma of prostate|lymphoma of the prostate|lymphoma of prostate gland|prostate gland lymphoma	http://purl.obolibrary.org/obo/MONDO_0000996	A rare non-Hodgkin or Hodgkin lymphoma that arises from the prostate gland.	DOID:10290|NCIT:C5533|UMLS:C1335512
MONDO:0000995	familial periodic paralysis	biolink:Disease	mondo	NCIT:C84709|MESH:D010245|GARD:0006422|ICD10:G72.3|SCTID:267607008|DOID:1029|Orphanet:371433	ordo_group_of_disorders|gard_rare	familial periodic paralyses|paralyses, normokalemic periodic|periodic paralysis, familial|genetic periodic paralysis|normokalemic periodic paralyses|periodic paralyses, normokalemic|paralysis, familial periodic|normokalemic periodic paralysis|hereditary periodic paralysis (disease)|familial periodic paralysis|periodic paralysis, normokalemic|periodic paralyses, familial|paralysis, normokalemic periodic	http://purl.obolibrary.org/obo/MONDO_0000995	A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally.	MESH:D010245|DOID:1029|ORPHA:371433|SNOMEDCT:267607008|NCIT:C84709
MONDO:0009329	pulmonary venoocclusive disease 2	biolink:Disease	mondo	OMIM:234810|SCTID:233949008|GARD:0008527|ICD10:D18.0|ICD9:416.8|UMLS:C0340548|MESH:C535861|Orphanet:199241	ordo_disease	familial pulmonary capillary hemangiomatosis|pulmonary venoocclusive disease 2, autosomal recessive|pulmonary capillary hemangiomatosis|hemangiomatosis, familial pulmonary capillary|pulmonary venoocclusive disease 2, autosomal recessive; PVOD2|PVOD2	http://purl.obolibrary.org/obo/MONDO_0009329	A rare form of pulmonary arterial hypertension (PAH) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal.	ORPHA:199241|MESH:C535861|SNOMEDCT:233949008|UMLS:C0340548|http://identifiers.org/omim/234810
MONDO:0009328	hemangiomatosis, cutaneous, with associated features	biolink:Disease	mondo	UMLS:C0220738|MESH:C562438|OMIM:234800		hemangiomatosis, cutaneous, with associated features	http://purl.obolibrary.org/obo/MONDO_0009328		UMLS:C0220738|MESH:C562438|http://identifiers.org/omim/234800
MONDO:0024965	muscular dystrophy, non-human animal	biolink:Disease	mondo	UMLS:C0026851|MESH:D009137		dystrophies, animal muscular|animal muscular dystrophy|dystrophy, animal muscular|animal muscular dystrophies|muscular dystrophies, animal	http://purl.obolibrary.org/obo/MONDO_0024965		MESH:D009137|UMLS:C0026851
MONDO:0000994	malignant prostate phyllodes tumor	biolink:Disease	mondo	NCIT:C5531|DOID:10289|UMLS:C1334615		malignant phyllodes neoplasm of prostate|malignant phyllodes tumor of prostate|malignant prostate phyllodes neoplasm|malignant phyllodes tumor of the prostate|malignant phyllodes neoplasm of the prostate|prostate malignant phyllodes tumor|malignant prostate phyllodes tumor	http://purl.obolibrary.org/obo/MONDO_0000994	An unusual malignant tumor that arises from the prostate gland. It is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia.	DOID:10289|NCIT:C5531|UMLS:C1334615
MONDO:0012979	primary ciliary dyskinesia 12	biolink:Disease	mondo	UMLS:C2675228|OMIM:612650|DOID:0110601|MESH:C567211|ICD10:Q34.8		ciliary dyskinesia, primary, 12|CILD12|ciliary dyskinesia, primary, 12; CILD12|ciliary dyskinesia, primary, 12, without situs inversus|primary ciliary dyskinesia 12 without situs inversus|RSPH9 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 12|primary ciliary dyskinesia type 12|primary ciliary dyskinesia caused by mutation in RSPH9	http://purl.obolibrary.org/obo/MONDO_0012979	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH9 gene.	MESH:C567211|http://identifiers.org/omim/612650|UMLS:C2675228|DOID:0110601
MONDO:0009327	heart, malformation of	biolink:Disease	mondo	OMIM:140500|OMIM:234750		heart, malformation of	http://purl.obolibrary.org/obo/MONDO_0009327		http://identifiers.org/omim/234750|http://identifiers.org/omim/140500
MONDO:0010316	FG syndrome 3	biolink:Disease	mondo	GARD:0009924|UMLS:C1845567|OMIM:300406	gard_rare	FG syndrome 3|FGS3|FG syndrome 3; FGS3	http://purl.obolibrary.org/obo/MONDO_0010316		http://identifiers.org/omim/300406|UMLS:C1845567
MONDO:0010315	T-B+ severe combined immunodeficiency due to gamma chain deficiency	biolink:Disease	mondo	NCIT:C4682|SCTID:203592006|DOID:0060013|GARD:0005618|Orphanet:276|EFO:0005555|ICD10:D81.2|OMIM:300400	ordo_disease	severe combined immunodeficiency, X-linked|severe combined immunodeficiency, X-linked; SCIDX1|X-SCID|severe combined immunodeficiency T- B+ due to gamma chain deficiency|T-B+ severe combined immunodeficiency due to gamma chain deficiency|X-linked severe combined immunodeficiency|SCID, X-linked|XSCID|X-linked SCID|immunodeficiency 4|severe combined immunodeficiency, X-linked, T cell-negative, B cell-positive, NK cell-negative|thymic epithelial hypoplasia|SCIDX|severe combined immunodeficiency T- B+, X-linked|T-B+ severe combined immunodeficiency, X-linked|SCID-X1|SCIDX1|T-B+ SCID due to gamma chain deficiency	http://purl.obolibrary.org/obo/MONDO_0010315	Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.	http://identifiers.org/omim/300400|ORPHA:276|DOID:0060013|SNOMEDCT:203592006|UMLS:C2931540|NCIT:C4682
MONDO:0009326	congenital heart block	biolink:Disease	mondo	COHD:315069|ICD9:746.86|MedDRA:10019263|DOID:990|SCTID:46619002|GARD:0006164|OMIM:234700|MESH:C535758|ICD10:Q24.6|Orphanet:60041|UMLS:C0149530	gard_rare|ordo_disease	congenital atrioventricular block|heart block, congenital	http://purl.obolibrary.org/obo/MONDO_0009326	Heart block that occurs on or before 28 days of life.	UMLS:C0149530|http://identifiers.org/omim/234700|MEDDRA:10019263|ORPHA:60041|SNOMEDCT:46619002|DOID:990|MESH:C535758
MONDO:0009325	deafness-enamel hypoplasia-nail defects syndrome	biolink:Disease	mondo	UMLS:C1856186|Orphanet:3220|SCTID:721085000|GARD:0001687|MESH:C535994	ordo_malformation_syndrome	Heimler syndrome|deafness enamel hypoplasia nail defects|bilateral sensorineural hearing loss, enamel hypoplasia and nail defects|sensorineural hearing loss, enamel hypoplasia, and nail abnormalities	http://purl.obolibrary.org/obo/MONDO_0009325	Deafness-enamel hypoplasia-nail defects syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive.	MESH:C535994|ORPHA:3220|UMLS:C1856186|SNOMEDCT:721085000
MONDO:0010318	FG syndrome 4	biolink:Disease	mondo	GARD:0009925|UMLS:CN033933|OMIM:300422	gard_rare	CASK FG syndrome|cask FG syndrome|intellectual disability, X-linked, with or without Nystagmus|X-linked intellectual disability with or without nystagmus|FG syndrome 4|FG syndrome 4; FGS4|FG syndrome caused by mutation in CASK|FG syndrome caused by mutation in cask|mental retardation, X-linked, with or without Nystagmus|FG syndrome type 4|FGS4	http://purl.obolibrary.org/obo/MONDO_0010318	Any FG syndrome in which the cause of the disease is a mutation in the CASK gene.	http://identifiers.org/omim/300422|UMLS:CN033933
MONDO:0012977	autosomal recessive nonsyndromic deafness 1B	biolink:Disease	mondo	OMIM:612645|MESH:C567213|GTR:AN1075764|DOID:0110476|UMLS:C2675235|UMLS:CN674504|ICD10:H90.3		autosomal recessive nonsyndromic deafness caused by mutation in GJB6|deafness, autosomal recessive 1B; DFNB1B|deafness, autosomal recessive 1B|autosomal recessive nonsyndromic deafness type 1B|GJB6 autosomal recessive nonsyndromic deafness|DFNB1B|Autosomal recessive deafness type 1B|autosomal recessive deafness 1B|deafness, autosomal recessive type 1B	http://purl.obolibrary.org/obo/MONDO_0012977	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene.	MESH:C567213|http://identifiers.org/omim/612645|UMLS:C2675235|UMLS:CN674504|DOID:0110476
MONDO:0009324	Hartnup disease	biolink:Disease	mondo	MedDRA:10019165|DOID:1060|MESH:D006250|SCTID:80902009|UMLS:C0018609|Orphanet:2116|ICD10:E72.02|OMIM:234500|GARD:0006569|NCIT:C84748|ICD10:E72.0	ordo_disease|gard_rare	Hartnup disorder; HND|HND|neutral amino acid transport defect|Hartnup disease|neutral 1 amino acid transport defect|deficiency of tryptophan oxygenase|Hartnup disorder|aminoaciduria, Hartnup type	http://purl.obolibrary.org/obo/MONDO_0009324	Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).	UMLS:C0018609|SNOMEDCT:80902009|NCIT:C84748|http://identifiers.org/omim/234500|ORPHA:2116|MEDDRA:10019165|MESH:D006250|DOID:1060
MONDO:0010317	intellectual disability, X-linked, with or without seizures, arx-related	biolink:Disease	mondo	MESH:C564502|GARD:0005614|UMLS:C0796244|UMLS:C1845298|OMIM:300419|OMIM:300504|MESH:C563150		MRXARX|intellectual disability, X-linked 29|mental retardation, X-linked 52; MRX52|mental retardation, X-linked 29|intellectual disability, X-linked 38|mental retardation, X-linked 52|mental retardation, X-linked 38|MRX52|intellectual disability, X-linked 33|intellectual disability, X-linked, with or without seizures, ARX-related|intellectual disability, X-linked 32|intellectual disability, X-linked 43|intellectual disability, X-linked 54|intellectual disability, X-linked 87|intellectual disability, X-linked 76|mental retardation, X-linked 33|mental retardation, X-linked, with or without seizures, arx-related|intellectual disability, X-linked 52; MRX52|intellectual disability, X-linked, with or without seizures, arx-RELATED; MRXARX|mental retardation, X-linked 54|mental retardation, X-linked 32|mental retardation, X-linked 43|mental retardation, X-linked 87|mental retardation, X-linked 76|intellectual disability, X-linked 52|mental retardation, X-linked, with or without seizures, arx-RELATED; MRXARX|ARX-related intellectual disability	http://purl.obolibrary.org/obo/MONDO_0010317		http://identifiers.org/omim/300419|UMLS:C0796244|http://identifiers.org/omim/300504|UMLS:C1845298|MESH:C564502|MESH:C563150
MONDO:0012978	primary ciliary dyskinesia 11	biolink:Disease	mondo	DOID:0110602|MESH:C567212|ICD10:Q34.8|OMIM:612649|UMLS:C2675229		ciliary dyskinesia, primary, 11; CILD11|ciliary dyskinesia, primary, 11, without situs inversus|ciliary dyskinesia, primary, type 11|primary ciliary dyskinesia 11 without situs inversus|primary ciliary dyskinesia caused by mutation in RSPH4A|primary ciliary dyskinesia type 11|ciliary dyskinesia, primary, 11|CILD11|RSPH4A primary ciliary dyskinesia	http://purl.obolibrary.org/obo/MONDO_0012978	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH4A gene.	MESH:C567212|UMLS:C2675229|http://identifiers.org/omim/612649|DOID:0110602
MONDO:0009323	Halothane hepatitis	biolink:Disease	mondo	UMLS:C0241913|MESH:C562477|SCTID:235873001|OMIM:234350		Halothane hepatitis	http://purl.obolibrary.org/obo/MONDO_0009323		MESH:C562477|http://identifiers.org/omim/234350|SNOMEDCT:235873001|UMLS:C0241913
GO:1905330	regulation of morphogenesis of an epithelium	biolink:OntologyClass	mondo			regulation of epithelium morphogenesis	http://purl.obolibrary.org/obo/GO_1905330	Any process that modulates the frequency, rate or extent of morphogenesis of an epithelium.	
GO:1905331	negative regulation of morphogenesis of an epithelium	biolink:OntologyClass	mondo			down-regulation of morphogenesis of an epithelium|downregulation of epithelium morphogenesis|down regulation of epithelium morphogenesis|inhibition of epithelium morphogenesis|down-regulation of epithelium morphogenesis|negative regulation of epithelium morphogenesis|downregulation of morphogenesis of an epithelium|down regulation of morphogenesis of an epithelium|inhibition of morphogenesis of an epithelium	http://purl.obolibrary.org/obo/GO_1905331	Any process that stops, prevents or reduces the frequency, rate or extent of morphogenesis of an epithelium.	
MONDO:0010319	syndromic X-linked intellectual disability Hedera type	biolink:Disease	mondo	MESH:C564516|OMIM:300423|UMLS:C1845543|Orphanet:93952|DOID:0060806	ordo_disease	mental retardation, X-linked, syndromic, Hedera type|X-linked intellectual disability with epilepsy|X-linked mental retardation with epilepsy|MRXSH|X-linked intellectual disability, Hedera type|intellectual disability, X-linked, syndromic, Hedera type|MRXE|intellectual disability, X-linked, with epilepsy|mental retardation, X-linked, with epilepsy|intellectual disability, X-linked, syndromic, Hedera type; MRXSH|mental retardation, X-linked, syndromic, Hedera type; MRXSH	http://purl.obolibrary.org/obo/MONDO_0010319	X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.	http://identifiers.org/omim/300423|ORPHA:93952|UMLS:C1845543|MESH:C564516|DOID:0060806
MONDO:0009322	obsolete halo nevi	biolink:Disease	mondo	OMIM:234300			http://purl.obolibrary.org/obo/MONDO_0009322		http://identifiers.org/omim/234300
MONDO:0009321	hallux varus-preaxial polysyndactyly syndrome	biolink:Disease	mondo	ICD10:Q74.2|UMLS:C1856197|OMIM:234280|MESH:C536885|Orphanet:2110|GARD:0003118	ordo_malformation_syndrome	hallux varus and preaxial polysyndactyly|Kleiner Holmes syndrome|Kleiner-Holmes syndrome	http://purl.obolibrary.org/obo/MONDO_0009321	Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980.	http://identifiers.org/omim/234280|ORPHA:2110|UMLS:C1856197|MESH:C536885
GO:1905332	positive regulation of morphogenesis of an epithelium	biolink:OntologyClass	mondo			upregulation of morphogenesis of an epithelium|up-regulation of epithelium morphogenesis|activation of epithelium morphogenesis|up regulation of morphogenesis of an epithelium|upregulation of epithelium morphogenesis|up-regulation of morphogenesis of an epithelium|activation of morphogenesis of an epithelium|positive regulation of epithelium morphogenesis|up regulation of epithelium morphogenesis	http://purl.obolibrary.org/obo/GO_1905332	Any process that activates or increases the frequency, rate or extent of morphogenesis of an epithelium.	
MONDO:0009320	Hall-Riggs syndrome	biolink:Disease	mondo	ICD10:Q87.8|UMLS:C1856198|OMIM:234250|Orphanet:2107|MESH:C535623|SCTID:721008000|GARD:0002586	ordo_malformation_syndrome	HALL-Riggs intellectual disability syndrome|HALL-Riggs mental retardation syndrome|Hall Riggs mental retardation syndrome|Hall Riggs intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0009320	Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit.	http://identifiers.org/omim/234250|ORPHA:2107|UMLS:C1856198|MESH:C535623|SNOMEDCT:721008000
MONDO:0012982	episodic ataxia type 6	biolink:Disease	mondo	DOID:0050994|SCTID:718753002|OMIM:612656|ICD10:G11.8|UMLS:C2675211|Orphanet:209967|MESH:C567207	ordo_disease	SLC1A3 hereditary episodic ataxia|hereditary episodic ataxia caused by mutation in SLC1A3|episodic ataxia, type 6; EA6|EA6|episodic ataxia, type 6	http://purl.obolibrary.org/obo/MONDO_0012982	Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.	ORPHA:209967|DOID:0050994|SNOMEDCT:718753002|MESH:C567207|UMLS:C2675211|http://identifiers.org/omim/612656
MONDO:0012983	cone-rod dystrophy 12	biolink:Disease	mondo	DOID:0111019|OMIM:612657|UMLS:C2675210|MESH:C567206		cone-rod dystrophy 12; CORD12|cone-rod dystrophy type 12|cone-rod dystrophy 12|CORD12|PROM1 cone-rod dystrophy|cone-rod dystrophy caused by mutation in PROM1	http://purl.obolibrary.org/obo/MONDO_0012983	Any cone-rod dystrophy in which the cause of the disease is a mutation in the PROM1 gene.	UMLS:C2675210|http://identifiers.org/omim/612657|DOID:0111019|MESH:C567206
MONDO:0012980	endocrine-cerebro-osteodysplasia syndrome	biolink:Disease	mondo	ICD10:Q87.8|UMLS:C2675227|DOID:0060641|Orphanet:199332|MESH:C567210|UMLS:C4509819|OMIM:612651|SCTID:723309006	ordo_malformation_syndrome	ECO syndrome|endocrine-CEREBROOSTEODYSPLASIA|ECO|endocrine-CEREBROOSTEODYSPLASIA; ECO	http://purl.obolibrary.org/obo/MONDO_0012980	Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.	ORPHA:199332|UMLS:C4509819|DOID:0060641|SNOMEDCT:723309006|MESH:C567210|http://identifiers.org/omim/612651|UMLS:C2675227
MONDO:0010321	autism, susceptibility to, X-linked 1	biolink:Disease	mondo	OMIM:300425	predisposition	autism, susceptibility to, X-linked 1; AUTSX1|autism, susceptibility to, X-linked 1|AUTSX1|autism, susceptibility to, X-linked type 1|susceptibility to X-linked autism 1	http://purl.obolibrary.org/obo/MONDO_0010321		http://identifiers.org/omim/300425
MONDO:0012981	hereditary spherocytosis type 4	biolink:Disease	mondo	OMIM:612653|UMLS:C2675212|DOID:0110919|MESH:C567208		SLC4A1 hereditary spherocytosis|HS4|spherocytosis, type 4; SPH4|spherocytosis, type 4|hereditary spherocytosis 4|SPH4|spherocytosis, hereditary, 4|hereditary spherocytosis caused by mutation in SLC4A1	http://purl.obolibrary.org/obo/MONDO_0012981	Any hereditary spherocytosis in which the cause of the disease is a mutation in the SLC4A1 gene.	DOID:0110919|MESH:C567208|http://identifiers.org/omim/612653|UMLS:C2675212
MONDO:0010320	retinitis pigmentosa 23	biolink:Disease	mondo	UMLS:C1419610|ICD10:H35.5|DOID:0110412|GARD:0010391|OMIM:300424	gard_rare	RP 23|retinitis pigmentosa 23; RP23|OFD1 retinitis pigmentosa|retinitis pigmentosa 23|RP23|retinitis pigmentosa caused by mutation in OFD1|retinitis pigmentosa type 23	http://purl.obolibrary.org/obo/MONDO_0010320	Any retinitis pigmentosa in which the cause of the disease is a mutation in the OFD1 gene.	UMLS:C1419610|DOID:0110412|http://identifiers.org/omim/300424
MONDO:0010323	Atkin-Flaitz syndrome	biolink:Disease	mondo	Orphanet:1193|GARD:0003537|SCTID:718577005|OMIM:300431|ICD10:Q87.8	ordo_malformation_syndrome	X-linked intellectual disability, Atkin type|Atkin syndrome|Atkin-Flaitz syndrome	http://purl.obolibrary.org/obo/MONDO_0010323	Atkin-Flaitz syndrome is characterised by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked.	ORPHA:1193|http://identifiers.org/omim/300431|UMLS:C0796206|SNOMEDCT:718577005
MONDO:0012986	bilateral parasagittal parieto-occipital polymicrogyria	biolink:Disease	mondo	GARD:0010785|OMIM:612691|MESH:C567201|ICD10:Q04.3|UMLS:C2675191|Orphanet:208441	ordo_clinical_subtype|gard_rare	polymicrogyria, bilateral temporooccipital|polymicrogyria, bilateral temporooccipital; BTOP|BTOP	http://purl.obolibrary.org/obo/MONDO_0012986		UMLS:C2675191|http://identifiers.org/omim/612691|ORPHA:208441|MESH:C567201
MONDO:0010322	MRX2	biolink:Disease	mondo	MESH:C563135|OMIM:300428|UMLS:C0796207		intellectual disability, X-linked 2; MRX2|mental retardation, X-linked 2; MRX2|intellectual disability, X-linked 2|mental retardation, X-linked 2|MRX2	http://purl.obolibrary.org/obo/MONDO_0010322		MESH:C563135|http://identifiers.org/omim/300428|UMLS:C0796207
MONDO:0012987	agammaglobulinemia 6, autosomal recessive	biolink:Disease	mondo	UMLS:C3150207|OMIM:612692		agammaglobulinemia, autosomal recessive, due to Cd79B defect|AGM6|agammaglobulinemia 6, autosomal recessive; AGM6|CD79B autosomal agammaglobulinemia|agammaglobulinemia 6, autosomal recessive|autosomal agammaglobulinemia caused by mutation in CD79B	http://purl.obolibrary.org/obo/MONDO_0012987	Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79B gene.	http://identifiers.org/omim/612692|UMLS:C3150207
MONDO:0010325	X-linked intellectual disability, Stocco dos Santos type	biolink:Disease	mondo	Orphanet:85288|ICD10:Q87.8|UMLS:C1845530|SCTID:718910006|GARD:0001133|OMIM:300434|MESH:C537495	ordo_malformation_syndrome	Stocco DOS Santos X-linked intellectual disability syndrome; SDSX|Stocco DOS Santos X-linked mental retardation syndrome; SDSX|intellectual disability, X-linked, Stocco Dos Santos type|mental retardation, X-linked, Stocco Dos Santos type|Stocco dos Santos syndrome|Stocco DOS Santos X-linked intellectual disability syndrome|Sdsx|Stocco DOS Santos X-linked mental retardation syndrome|intellectual disability, Stocco dos Santos type|mental retardation, Stocco dos Santos type	http://purl.obolibrary.org/obo/MONDO_0010325		UMLS:C1845530|ORPHA:85288|MESH:C537495|SNOMEDCT:718910006|http://identifiers.org/omim/300434
MONDO:0012984	PHARC syndrome	biolink:Disease	mondo	MESH:C567203|OMIM:612674|SCTID:723452007|DOID:0080181|UMLS:C2675204|Orphanet:171848	ordo_disease	PHARC|polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract|polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract; PHARC|polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome|peripheral neuropathy, Fiskerstrand type|PHARC syndrome|polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	http://purl.obolibrary.org/obo/MONDO_0012984	Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.	http://identifiers.org/omim/612674|UMLS:C2675204|SNOMEDCT:723452007|ORPHA:171848|MESH:C567203|DOID:0080181
MONDO:0010324	MRX81	biolink:Disease	mondo	OMIM:300433|UMLS:C1845531|MESH:C564515		intellectual disability, X-linked 81; MRX81|mental retardation, X-linked 81; MRX81|MRX81|intellectual disability, X-linked 81|mental retardation, X-linked 81	http://purl.obolibrary.org/obo/MONDO_0010324		UMLS:C1845531|MESH:C564515|http://identifiers.org/omim/300433
MONDO:0012985	hereditary spherocytosis type 5	biolink:Disease	mondo	MESH:C567202|DOID:0110920|OMIM:612690|UMLS:C2675192		hereditary spherocytosis 5|spherocytosis, type 5|spherocytosis, hereditary, 5|hereditary spherocytosis caused by mutation in EPB42|SPH5|HS5|spherocytosis, type 5; SPH5|EPB42 hereditary spherocytosis	http://purl.obolibrary.org/obo/MONDO_0012985	Any hereditary spherocytosis in which the cause of the disease is a mutation in the EPB42 gene.	http://identifiers.org/omim/612690|UMLS:C2675192|DOID:0110920|MESH:C567202
MONDO:0000989	mumps infectious disease	biolink:Disease	mondo	ICD9:072|ICD10:B26.9|EFO:0007383|MESH:D019351|SCTID:36989005|NCIT:C29888|UMLS:C0026780|MESH:D009107|ICD10:B26|GARD:0007116|DOID:10264	gard_rare	mumps|Mumps virus infectious disease|Mumps virus caused disease or disorder|Mumps virus disease or disorder|epidemic parotitis|mumps virus infectious disease	http://purl.obolibrary.org/obo/MONDO_0000989	A contagious viral infection caused by the mumps virus. Symptoms include swollen and tender parotid glands, fever, muscle aches and fatigue. Due to vaccination programs, mumps has become a rare disease.	MESH:D009107|UMLS:C0026780|SNOMEDCT:36989005|MESH:D019351|NCIT:C29888|DOID:10264
MONDO:0000988	discharging ear	biolink:Disease	mondo	ICD10:H92.10|DOID:10261|ICD10:H92.1|ICD9:388.60|ICD9:388.6			http://purl.obolibrary.org/obo/MONDO_0000988	Discharge or drainage of fluid from the ear.	NCIT:C35199|DOID:10261
MONDO:0000987	cholesterolosis of gallbladder	biolink:Disease	mondo	ICD10:K82.4|SCTID:61565001|DOID:10254|ICD9:575.6|COHD:197318|UMLS:C0152456		strawberry gallbladder	http://purl.obolibrary.org/obo/MONDO_0000987	A disorder characterized by a change in the gallbladder wall due to excess cholesterol.	UMLS:C0152456|SNOMEDCT:61565001|DOID:10254
MONDO:0024950	horse disease	biolink:Disease	mondo	MESH:D006734|UMLS:C0019940		horse disease|disease, horse|disease, equine|equine disease|diseases, equine|diseases, horse|equine diseases	http://purl.obolibrary.org/obo/MONDO_0024950	Diseases of domestic and wild horses of the species Equus caballus.	MESH:D006734|UMLS:C0019940
MONDO:0024953	lameness, non-human animal	biolink:Disease	mondo	MESH:D007794		animal lameness|Gait disorders, animal|animal Gait disorder|animal Lamenesses|disorder, animal Gait|disorders, animal Gait|Lamenesses, animal|animal Gait disorders|Gait disorder, animal	http://purl.obolibrary.org/obo/MONDO_0024953	A departure from the normal gait in animals.	MESH:D007794
MONDO:0009339	congenital bile acid synthesis defect 2	biolink:Disease	mondo	MESH:C535443|Orphanet:79303|GARD:0010045|DOID:0111069|ICD10:K76.8|UMLS:C1856127|OMIM:235555	ordo_disease	bile acid synthesis defect, congenital, 2; CBAS2|cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency|bile acid synthesis defect, congenital, 2|CBAS2|congenital bile acid synthesis defect, type 2|bile acid synthesis defect, congenital, type 2|congenital bile acid synthesis defect caused by mutation in AKR1D1|cholestasis with Delta(4)-3-oxosteroid 5-Beta-reductase deficiency|congenital bile acid synthesis defect type 2|AKR1D1 congenital bile acid synthesis defect|BASD2	http://purl.obolibrary.org/obo/MONDO_0009339	Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins.	http://identifiers.org/omim/235555|UMLS:C1856127|DOID:0111069|MESH:C535443|ORPHA:79303
MONDO:0024954	larva migrans, visceral	biolink:Disease	mondo	MESH:D007816		visceral larva migrans|visceral larva Migran|visceral larva migrans syndrome|larva Migran, visceral|Migran, visceral larva|migrans, visceral larva	http://purl.obolibrary.org/obo/MONDO_0024954	A condition produced in humans by the prolonged migration of animal nematode larvae in extraintestinal tissues other than skin; characterized by persistent hypereosinophilia, hepatomegaly, and frequently pneumonitis, commonly caused by Toxocara canis and Toxocara cati.	MESH:D007816
MONDO:0009338	hepatic veno-occlusive disease-immunodeficiency syndrome	biolink:Disease	mondo	ICD10:K76.5|GARD:0010083|Orphanet:79124|OMIM:235550|UMLS:C1856128|SCTID:724361001|MESH:C537257	gard_rare|ordo_disease	veno-occlusive disease and immunodeficiency syndrome|familial veno-occlusive disease with immunodeficiency|hepatic veno-occlusive disease with immunodeficiency|VODI syndrome|hepatic venoocclusive disease with immunodeficiency; VODI|hepatic venoocclusive disease with immunodeficiency|VODI	http://purl.obolibrary.org/obo/MONDO_0009338	Hepatic veno-occlusive disease-immunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease.	SNOMEDCT:724361001|http://identifiers.org/omim/235550|UMLS:C1856128|MESH:C537257|ORPHA:79124
MONDO:0012968	Usher syndrome type 1H	biolink:Disease	mondo	OMIM:612632|ICD10:H35.5|MESH:C567227|DOID:0110835|UMLS:C2675458		USHER syndrome, type IH; USH1H|Usher syndrome type IH|USH1H|USHER syndrome, type IH	http://purl.obolibrary.org/obo/MONDO_0012968	An Usher syndrome type 1 that has material basis in variation in the chromosome region 15q22-q23.	MESH:C567227|http://identifiers.org/omim/612632|UMLS:C2675458|DOID:0110835
MONDO:0010305	creatine transporter deficiency	biolink:Disease	mondo	GARD:0001608|NCIT:C125665|SCTID:698290008|DOID:0050800|ICD9:758.81|MESH:C535598|Orphanet:52503|ICD10:E72.8|OMIM:300352	ordo_disease	creatine transporter deficiency|cerebral creatine deficiency syndrome 1; CCDS1|mental retardation, X-linked, with seizures, short stature, and midface hypoplasia|SLC6A8 deficiency|creatine deficiency, X-linked|intellectual disability, X-linked with seizures, short stature and midface hypoplasia|mental retardation, X-linked, with creatine Transport deficiency|X-linked creatine transporter deficiency|X-linked creatine deficiency syndrome|intellectual disability, X-linked, with creatine transport deficiency|X-linked creatine deficiency|cerebral creatine deficiency syndrome type 1|creatine transporter defect|intellectual disability, X-linked, with seizures, short stature, and midface hypoplasia|cerebral creatine deficiency syndrome 1|mental retardation, X-linked with seizures, short stature and midface hypoplasia|intellectual disability, X-linked, with creatine Transport deficiency|CCDS1|creatine deficiency syndrome, X-linked|mental retardation, X-linked, with creatine transport deficiency	http://purl.obolibrary.org/obo/MONDO_0010305	X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.	http://identifiers.org/omim/300352|SNOMEDCT:698290008|DOID:0050800|MESH:C535598|NCIT:C125665|ORPHA:52503
MONDO:0010304	Graves disease, susceptibility to, X-linked 1	biolink:Disease	mondo	OMIM:300351	predisposition	Graves disease, susceptibility to, X-linked 1|Graves disease, susceptibility to, X-linked 2|Grdx1|Graves disease, susceptibility to, X-linked type 1	http://purl.obolibrary.org/obo/MONDO_0010304		http://identifiers.org/omim/300351
MONDO:0012969	microvascular complications of diabetes, susceptibility to, 5	biolink:Disease	mondo	OMIM:612633	predisposition	PON1 microvascular complications of diabetes, susceptibility|microvascular complications of diabetes, susceptibility to, type 5|MVCD5|retinopathy, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility caused by mutation in PON1|microvascular complications of diabetes, susceptibility to, 5|microvascular complications of diabetes, susceptibility to, 5; MVCD5	http://purl.obolibrary.org/obo/MONDO_0012969	Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the PON1 gene.	http://identifiers.org/omim/612633
MONDO:0009337	Hennekam lymphangiectasia-lymphedema syndrome 1	biolink:Disease	mondo	OMIM:235510|UMLS:C4012050		Hennekam lymphangiectasia-lymphedema syndrome 1; HKLLS1|Hennekam syndrome caused by mutation in CCBE1|Hennekam lymphangiectasia-lymphedema syndrome 1|Hennekam lymphangiectasia-lymphedema syndrome|lymphatic dysplasia, generalized|CCBE1 Hennekam syndrome|Hennekam lymphangiectasia-lymphedema syndrome type 1|HKLLS1	http://purl.obolibrary.org/obo/MONDO_0009337	Any Hennekam syndrome in which the cause of the disease is a mutation in the CCBE1 gene.	http://identifiers.org/omim/235510|UMLS:C4012050
MONDO:0009336	hemosiderosis, pulmonary, with deficiency of gamma-a globulin	biolink:Disease	mondo	OMIM:235500		hemosiderosis, pulmonary, with deficiency of gamma-a globulin	http://purl.obolibrary.org/obo/MONDO_0009336		http://identifiers.org/omim/235500
MONDO:0010307	MRX73	biolink:Disease	mondo	MESH:C564528|OMIM:300355|UMLS:C1845860		intellectual disability, X-linked 73; MRX73|intellectual disability, X-linked 73|MRX73|mental retardation, X-linked 73; MRX73|mental retardation, X-linked 73	http://purl.obolibrary.org/obo/MONDO_0010307		http://identifiers.org/omim/300355|UMLS:C1845860|MESH:C564528
MONDO:0012966	microvascular complications of diabetes, susceptibility to, 4	biolink:Disease	mondo	OMIM:612628	predisposition	nephropathy, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility to, type 4|IL1RN microvascular complications of diabetes, susceptibility|microvascular complications of diabetes, susceptibility to, 4|microvascular complications of diabetes, susceptibility to, 4; MVCD4|microvascular complications of diabetes, susceptibility caused by mutation in IL1RN|MVCD4	http://purl.obolibrary.org/obo/MONDO_0012966	Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the IL1RN gene.	http://identifiers.org/omim/612628
MONDO:0010306	X-linked intellectual disability, Cabezas type	biolink:Disease	mondo	SCTID:719811001|GARD:0013244|UMLS:C1845861|DOID:0060822|UMLS:C1845845|Orphanet:85293|ICD10:Q87.8|OMIM:300354	ordo_malformation_syndrome	MRXS15|mental retardation, X-linked, syndromic 15|Cabezas syndrome; syndromic X-linked intellectual disability 15|intellectual disability, X-linked, syndromic, Cabezas type; MRXSC|X-linked intellectual disability with short stature|intellectual disability, X-linked, with short stature|intellectual disability, X-linked, syndromic 15 (Cabezas type)|mental retardation, X-linked, syndromic 15 (Cabezas type)|X-linked mental retardation with short stature, hypogonadism, and abnormal gait|MRXSC|intellectual disability, X-linked, with short stature, hypogonadism, and abnormal Gait|intellectual disability, X-linked, syndromic, Cabezas type|Cul4B-related X-linked intellectual disability|X-linked mental retardation with short stature|X-linked intellectual disability with short stature, hypogonadism, and abnormal gait|mental retardation, X-linked, syndromic, Cabezas type; MRXSC|Cabezas syndrome|syndromic X-linked intellectual disability Cabezas type|mental retardation, X-linked, with short stature|mental retardation, X-linked, syndromic, Cabezas type|Cabezas type of X-linked syndromic intellectual disability|Cabezas syndrome; syndromic X-linked mental retardation 15|mental retardation, X-linked, with short stature, hypogonadism, and abnormal Gait|intellectual disability, X-linked, syndromic 15|MRSS	http://purl.obolibrary.org/obo/MONDO_0010306	X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.	http://identifiers.org/omim/300354|ORPHA:85293|SNOMEDCT:719811001|UMLS:C1845861|UMLS:C1845845|DOID:0060822
MONDO:0012967	hemolytic anemia due to adenylate kinase deficiency	biolink:Disease	mondo	ICD10:D55.3|SCTID:766982000|OMIM:612631|Orphanet:86817|MESH:C567228|UMLS:C2675459	ordo_disease	ADENYLATE KINASE deficiency, hemolytic anemia due to	http://purl.obolibrary.org/obo/MONDO_0012967	Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.	MESH:C567228|http://identifiers.org/omim/612631|UMLS:C2675459|ORPHA:86817|SNOMEDCT:766982000
MONDO:0009335	hemolytic uremic syndrome, atypical, susceptibility to, 1	biolink:Disease	mondo	OMIM:235400	predisposition	susceptibility to atypical hemolytic uremic syndrome 1|AHUS1|hemolytic uremic syndrome, atypical, susceptibility to, 1; AHUS1|hemolytic uremic syndrome, atypical, susceptibility to, type 1|hemolytic uremic syndrome, typical|hemolytic uremic syndrome, atypical, susceptibility to, 1|Ahus, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0009335		http://identifiers.org/omim/235400
MONDO:0010309	MRX42	biolink:Disease	mondo	UMLS:C1845810|MESH:C564524|OMIM:300372		mental retardation, X-linked 42|mental retardation, X-linked 42; MRX42|intellectual disability, X-linked 42; MRX42|intellectual disability, X-linked 42|MRX42	http://purl.obolibrary.org/obo/MONDO_0010309		http://identifiers.org/omim/300372|UMLS:C1845810|MESH:C564524
MONDO:0009334	hemolytic anemia with thermal sensitivity of red cells	biolink:Disease	mondo	MESH:C565522|OMIM:235370|UMLS:C1856158		hemolytic anemia with thermal sensitivity of red cells	http://purl.obolibrary.org/obo/MONDO_0009334		http://identifiers.org/omim/235370|UMLS:C1856158|MESH:C565522
MONDO:0009333	mullerian derivatives-lymphangiectasia-polydactyly syndrome	biolink:Disease	mondo	GARD:0005430|OMIM:235255|UMLS:C1856159|MESH:C536478|Orphanet:1655	ordo_malformation_syndrome	persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly|Urioste syndrome|Müllerian derivatives-lymphangiectasia-polydactyly syndrome|renal and craniofacial anomalies with persistence of mullerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly|MULLERIAN derivatives, persistence of, with lymphangiectasia and postaxial polydactyly	http://purl.obolibrary.org/obo/MONDO_0009333	Mullerian derivatives-lymphangiectasia-polydactyly syndrome is characterised by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure.	http://identifiers.org/omim/235255|UMLS:C1856159|ORPHA:1655|MESH:C536478
MONDO:0010308	thrombocytopenia, X-linked, with or without dyserythropoietic anemia	biolink:Disease	mondo	UMLS:C3550789|NCIT:C136653|OMIM:300367		XLTDA|thrombocytopenia, X-linked, with or without dyserythropoietic anemia|thrombocytopenia, X-linked, with or without dyserythropoietic anemia; XLTDA|X-linked thrombocytopenia, with or without dyserythropoietic Anemia	http://purl.obolibrary.org/obo/MONDO_0010308	An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present.	http://identifiers.org/omim/300367|NCIT:C136653|UMLS:C3550789
MONDO:0009332	congenital hematological disorder	biolink:Disease	mondo	NCIT:C104003		congenital hematological system disease|congenital hematological disorder	http://purl.obolibrary.org/obo/MONDO_0009332	A disorder of the blood that is present at birth.	NCIT:C104003
MONDO:0009331	isolated hemihyperplasia	biolink:Disease	mondo	ICD10:Q87.3|OMIM:235000|MESH:C565524|UMLS:C1856184|Orphanet:2128|MedDRA:10019463|GARD:0002630	ordo_morphological_anomaly	Hemicorporal hypertrophy|isolated hemihypertrophy|IH|hemihyperplasia, isolated; IH|hemihyperplasia|hemi 3 syndrome|hemi-3 syndrome|hemihypertrophy, isolated|hemihyperplasia, isolated	http://purl.obolibrary.org/obo/MONDO_0009331	Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma and hepoblastoma.	ORPHA:2128|MEDDRA:10019463|UMLS:C1856184|UMLS:C0332890|MESH:C565524|http://identifiers.org/omim/235000
MONDO:0009330	hemangiopericytoma, malignant	biolink:Disease	mondo	ICDO:9150/3|OMIM:234820|GARD:0002627|NCIT:C4301|MESH:C562740|UMLS:C0334542		hemangiopericytoma, malignant|malignant hemangiopericytoma|malignant hemangiopericytoma NOS	http://purl.obolibrary.org/obo/MONDO_0009330	An uncommon malignant neoplasm arising from pericytes. Distinction between benign and malignant hemangiopericytoma may be difficult or even impossible on morphologic grounds alone.	UMLS:C0334542|http://identifiers.org/omim/234820|NCIT:C4301|MESH:C562740
MONDO:0012971	microvascular complications of diabetes, susceptibility to, 7	biolink:Disease	mondo	OMIM:612635	predisposition	microvascular complications of diabetes, susceptibility to, 7|microvascular complications of diabetes, susceptibility to, 7; MVCD7|HFE microvascular complications of diabetes, susceptibility|MVCD7|microvascular complications of diabetes, susceptibility caused by mutation in HFE|proliferative retinopathy, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility to, type 7|nephropathy, diabetic, susceptibility to|nonproliferative retinopathy, diabetic, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0012971	Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the HFE gene.	http://identifiers.org/omim/612635
MONDO:0012972	FEB10	biolink:Disease	mondo	UMLS:C2675251|DOID:0111304|OMIM:612637|MESH:C567218		febrile seizures, familial, 10; FEB10|convulsions, familial febrile, 10|febrile seizures, familial, 10|FEB10	http://purl.obolibrary.org/obo/MONDO_0012972		http://identifiers.org/omim/612637|UMLS:C2675251|DOID:0111304|MESH:C567218
MONDO:0010310	osteopathia striata with cranial sclerosis	biolink:Disease	mondo	DOID:0060886|EFO:0005834|MESH:C536053|ICD9:733.99|SCTID:254129003|GARD:0004148|OMIM:300373|ICD10:Q78.8|UMLS:C0432268|Orphanet:2780	ordo_malformation_syndrome	osteopathia striata - cranial sclerosis|osteopathia striata with cranial sclerosis|osteopathia striata-cranial sclerosis syndrome|hyperostosis generalisata with striations|osteopathia striata with cranial sclerosis; OSCS|OSCS|osteopathia striata cranial sclerosis|Robinow-Unger syndrome	http://purl.obolibrary.org/obo/MONDO_0010310	Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.	MESH:C536053|ORPHA:2780|UMLS:C0432268|SNOMEDCT:254129003|DOID:0060886|http://identifiers.org/omim/300373
MONDO:0012970	microvascular complications of diabetes, susceptibility to, 6	biolink:Disease	mondo	OMIM:612634	predisposition	microvascular complications of diabetes, susceptibility to, 6; MVCD6|SOD2 microvascular complications of diabetes, susceptibility|microvascular complications of diabetes, susceptibility caused by mutation in SOD2|nephropathy, diabetic, susceptibility to|MVCD6|microvascular complications of diabetes, susceptibility to, type 6|microvascular complications of diabetes, susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0012970	Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the SOD2 gene.	http://identifiers.org/omim/612634
MONDO:0012975	autosomal dominant nonsyndromic deafness 3B	biolink:Disease	mondo	MESH:C567215|OMIM:612643|UMLS:C2675237|DOID:0110565|ICD10:H90.3		GJB6 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness type 3B|autosomal dominant nonsyndromic deafness caused by mutation in GJB6|deafness, autosomal dominant 3B|deafness, autosomal dominant 3B; DFNA3B|deafness, autosomal dominant type 3B|autosomal dominant deafness 3B|DFNA3B	http://purl.obolibrary.org/obo/MONDO_0012975	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene.	MESH:C567215|UMLS:C2675237|http://identifiers.org/omim/612643|DOID:0110565
MONDO:0010312	radial ray deficiency, X-linked	biolink:Disease	mondo	MESH:C564523|OMIM:300378|UMLS:C1845717		radial ray deficiency, X-linked|Rrdx	http://purl.obolibrary.org/obo/MONDO_0010312		UMLS:C1845717|MESH:C564523|http://identifiers.org/omim/300378
MONDO:0010311	Becker muscular dystrophy	biolink:Disease	mondo	SCTID:387732009|MedDRA:10059117|UMLS:C3490459|GARD:0005900|MESH:C570377|ICD10:G71.0|OMIM:300376|UMLS:C0699741|NCIT:C84587|DOID:9883|Orphanet:98895	gard_rare|ordo_disease	muscular dystrophy pseudohypertrophic progressive, Becker type|benign pseudohypertrophic muscular dystrophy|BMD|muscular dystrophy, pseudohypertrophic progressive, Becker type|Becker muscular dystrophy|Becker's muscular dystrophy|Becker dystrophinopathy|muscular dystrophy, Becker type; BMD|muscular dystrophy, Becker type|benign congenital myopathy|BMD	http://purl.obolibrary.org/obo/MONDO_0010311	Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.	MESH:C570377|MEDDRA:10059117|ORPHA:98895|UMLS:C0699741|UMLS:C0917713|SNOMEDCT:387732009|NCIT:C84587|UMLS:C3490459|DOID:9883|http://identifiers.org/omim/300376
MONDO:0012976	autosomal dominant nonsyndromic deafness 2B	biolink:Disease	mondo	ICD10:H90.3|MESH:C567214|DOID:0110559|UMLS:C2675236|OMIM:612644		autosomal dominant deafness 2B|autosomal dominant nonsyndromic deafness caused by mutation in GJB3|DFNA2B|deafness, autosomal dominant 2B; DFNA2B|deafness, autosomal dominant 2B|deafness, autosomal dominant type 2B|autosomal dominant nonsyndromic deafness type 2B|GJB3 autosomal dominant nonsyndromic deafness	http://purl.obolibrary.org/obo/MONDO_0012976	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB3 gene.	MESH:C567214|UMLS:C2675236|http://identifiers.org/omim/612644|DOID:0110559
MONDO:0012973	inflammatory bowel disease 26	biolink:Disease	mondo	MESH:C567217|DOID:0110901|OMIM:612639|UMLS:C2675249		inflammatory bowel disease 26; IBD26|IBD26|inflammatory bowel disease type 26|inflammatory bowel disease 26	http://purl.obolibrary.org/obo/MONDO_0012973	An inflammatory bowel disease that has material basis in variation in the chromosome region 12q15.	UMLS:C2675249|http://identifiers.org/omim/612639|DOID:0110901|MESH:C567217
MONDO:0010314	BPPX	biolink:Disease	mondo	OMIM:300388|SCTID:438583008		perisylvian syndrome, congenital bilateral|BPPX|BPP|PMGX|polymicrogyria, bilateral perisylvian, X-linked; BPPX|polymicrogyria, bilateral perisylvian, X-linked	http://purl.obolibrary.org/obo/MONDO_0010314		SNOMEDCT:438583008|http://identifiers.org/omim/300388
MONDO:0012974	autosomal dominant nonsyndromic deafness 59	biolink:Disease	mondo	MESH:C567216|UMLS:C2675238|OMIM:612642|ICD10:H90.3|DOID:0110583		deafness, autosomal dominant 59|autosomal dominant deafness 59|deafness, autosomal dominant 59; DFNA59|DFNA59|autosomal dominant nonsyndromic deafness type 59	http://purl.obolibrary.org/obo/MONDO_0012974	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 11p14.2-q12.3.	MESH:C567216|UMLS:C2675238|http://identifiers.org/omim/612642|DOID:0110583
MONDO:0010313	intellectual disability, X-linked 63	biolink:Disease	mondo	MESH:C564522|OMIM:300387|GARD:0005613|UMLS:C1845672		mental retardation, X-linked 68|intellectual disability, X-linked 63; MRX63|intellectual disability, X-linked type 63|intellectual disability, X-linked 63|ACSL4 non-syndromic X-linked intellectual disability|non-syndromic X-linked intellectual disability caused by mutation in ACSL4|mental retardation, X-linked 63; MRX63|ACSL4-related intellectual disability|mental retardation, X-linked 63|intellectual disability, X-linked 68|MRX63|mental retardation, X-linked type 63	http://purl.obolibrary.org/obo/MONDO_0010313	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ACSL4 gene.	UMLS:C1845672|MESH:C564522|http://identifiers.org/omim/300387
MONDO:0024945	hepatitis, non-human animal	biolink:Disease	mondo	MESH:D006520		Hepatitides, animal|animal Hepatitis|animal Hepatitides	http://purl.obolibrary.org/obo/MONDO_0024945	Inflammation of the liver in non-human animals.	MESH:D006520
MONDO:0000999	obsolete pneumoconiosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000999		
MONDO:0000998	obsolete parotid disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000998		
MONDO:0000971	chest wall lipoma	biolink:Disease	mondo	SCTID:448270009|UMLS:C1332932|ICD9:214.8|NCIT:C6719|DOID:10200		lipoma of chest wall|chest wall lipoma|lipoma of the chest wall	http://purl.obolibrary.org/obo/MONDO_0000971	A benign adipose tissue neoplasm of the chest wall.	UMLS:C1332932|NCIT:C6719|SNOMEDCT:448270009|DOID:10200
MONDO:0000970	breast lipoma	biolink:Disease	mondo	NCIT:C4647|ICD9:214.1|UMLS:C0349565|DOID:10199|SCTID:276891009		lipoma of breast|breast lipoma|lipoma of the breast	http://purl.obolibrary.org/obo/MONDO_0000970	A benign, mesenchymal neoplasm that arises from the breast. It is surrounded by a thin capsule and composed of mature adipose tissue cells. Atypia is absent.	SNOMEDCT:276891009|UMLS:C0349565|DOID:10199|NCIT:C4647
MONDO:0000975	lipoma of spermatic cord	biolink:Disease	mondo	COHD:197823|UMLS:C0153972|ICD9:214.4|NCIT:C3606|DOID:10206|SCTID:93162007		lipoma of the spermatic cord|lipoma of spermatic cord|spermatic cord lipoma	http://purl.obolibrary.org/obo/MONDO_0000975	A benign adipose tissue neoplasm of the spermatic cord. This is the most common tumor amongst the benign paratesticular lesions.	SNOMEDCT:93162007|NCIT:C3606|UMLS:C0153972|DOID:10206
MONDO:0009309	granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1	biolink:Disease	mondo	MESH:C565532|OMIM:233700|DOID:0070192|UMLS:C1856251		Soc2, deficiency of|p47-PHOX, deficiency of|granulomatous disease, chronic, due to Ncf1 deficiency|soluble oxidase component II, deficiency of|CDG1|NCF1 chronic granulomatous disease|Ncf1, deficiency of|granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type I|chronic granulomatous disease caused by mutation in NCF1|granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type I; CDG1|neutrophil cytosol Factor 1, deficiency of|CGD, autosomal recessive cytochrome B-positive, type 1	http://purl.obolibrary.org/obo/MONDO_0009309	Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF1 gene.	MESH:C565532|DOID:0070192|http://identifiers.org/omim/233700|UMLS:C1856251
MONDO:0000974	axillary lipoma	biolink:Disease	mondo	ICD9:214.8|DOID:10205|NCIT:C35419|UMLS:C0347429|SCTID:188993006		lipoma of axilla|axilla lipoma|axillary lipoma	http://purl.obolibrary.org/obo/MONDO_0000974	A benign adipose tissue neoplasm of the axilla.	SNOMEDCT:188993006|NCIT:C35419|DOID:10205|UMLS:C0347429
MONDO:0009308	granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	biolink:Disease	mondo	OMIM:233690|DOID:0070193|UMLS:C1856255|MESH:C565533		Cyba deficiency|granulomatous disease, chronic, autosomal recessive, cytochrome b-negative|CGD, autosomal recessive cytochrome B-negative|CGD due to deficiency of the Alpha Subunit of cytochrome B	http://purl.obolibrary.org/obo/MONDO_0009308		MESH:C565533|DOID:0070193|http://identifiers.org/omim/233690|UMLS:C1856255
NCBITaxon:6854	Arachnida	organism taxon	mondo	GC_ID:1		arachnids|arachnids	http://purl.obolibrary.org/obo/NCBITaxon_6854		
MONDO:0009307	granulomatous disease with defect in neutrophil chemotaxis	biolink:Disease	mondo	OMIM:233670|UMLS:C1856261|MESH:C565534		granulomatous disease with defect in neutrophil chemotaxis	http://purl.obolibrary.org/obo/MONDO_0009307		MESH:C565534|http://identifiers.org/omim/233670|UMLS:C1856261
MONDO:0000973	external ear lipoma	biolink:Disease	mondo	UMLS:C0347423|NCIT:C4618|SCTID:188988008|DOID:10203|ICD9:215.0		lipoma of the external ear|external ear lipoma|lipoma of external auditory meatus|lipoma of the external auditory meatus|external Ear lipoma|lipoma of external ear|lipoma of external Ear|lipoma of the external Ear|external auditory meatus lipoma	http://purl.obolibrary.org/obo/MONDO_0000973	A benign adipose tissue neoplasm of the external ear.	SNOMEDCT:188988008|DOID:10203|UMLS:C0347423|NCIT:C4618
MONDO:0000972	gallbladder lipoma	biolink:Disease	mondo	UMLS:C1333747|NCIT:C5835|DOID:10201		lipoma of gallbladder|lipoma of the gallbladder|gallbladder lipoma|lipoma of gall bladder|gall bladder lipoma	http://purl.obolibrary.org/obo/MONDO_0000972	A benign adipose tissue neoplasm involving the gallbladder wall.	UMLS:C1333747|DOID:10201|NCIT:C5835
MONDO:0009306	combined immunodeficiency with skin granulomas	biolink:Disease	mondo	MESH:C567115|ICD10:D81.1|OMIM:233650|UMLS:C2673536|Orphanet:157949	ordo_disease	CCHIDG|combined immunodeficiency due to RAG 1/2 deficiency|Cid due to RAG 1/2 deficiency|combined cellular and humoral immune defects with granulomas|combined cellular and humoral immune defects with granulomas; CCHIDG	http://purl.obolibrary.org/obo/MONDO_0009306		UMLS:C2673536|ORPHA:157949|MESH:C567115|http://identifiers.org/omim/233650
MONDO:0009305	granulocytopenia with immunoglobulin abnormality	biolink:Disease	mondo	UMLS:C1856263|OMIM:233600|MESH:C565535		granulocytopenia with immunoglobulin abnormality	http://purl.obolibrary.org/obo/MONDO_0009305		MESH:C565535|http://identifiers.org/omim/233600|UMLS:C1856263
MONDO:0012957	multiple sclerosis, susceptibility to, 3	biolink:Disease	mondo	OMIM:612595	predisposition	multiple sclerosis, susceptibility to, 3; MS3|MS3|multiple sclerosis, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0012957		http://identifiers.org/omim/612595
MONDO:0012958	multiple sclerosis, susceptibility to, 4	biolink:Disease	mondo	OMIM:612596	predisposition	multiple sclerosis, susceptibility to, 4; MS4|MS4|multiple sclerosis, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0012958		http://identifiers.org/omim/612596
MONDO:0009304	obsolete Gorlin-Chaudhry-Moss syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0009304		
MONDO:0009303	anti-glomerular basement membrane disease	biolink:Disease	mondo	MedDRA:10018620|ICD10:M31.0+|ICD10:N08.5*|GARD:0002551|DOID:9808|OMIM:233450|ICD9:446.21|NCIT:C84566|MESH:D019867|ICD10:M31.0|Orphanet:375|UMLS:C0403529|SCTID:236432001|EFO:0007290	ordo_disease|gard_rare	anti-GBM syndrome|anti-glomerular basement membrane disease|Goodpasture syndrome|anti-glomerular basement membrane antibody disease|rapidly progressive glomerulonephritis with pulmonary hemorrhage|pulmonary renal syndrome|glomerulonephritis - pulmonary hemorrhage	http://purl.obolibrary.org/obo/MONDO_0009303	Goodpasture syndrome is an autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term 'Goodpasture syndrome' for the findings of glomerulonephritis and pulmonary hemorrhage and the term 'Goodpasture disease' for those patients with glomerulonephritis, pulmonary hemorrhage, and anti-GBM antibodies. Currently, the preferred term for both conditions is “ anti-GBM antibody disease ”. Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). Symptoms may include general body discomfort or pain, bleeding from the nose and/or blood in the urine, respiratory problems, anemia, chest pain, and kidney failure. Anti-GBM disease is thought to result from an environmental insult (smoking, infections, exposure to certain drugs) in a person with genetic susceptibility, such as a specific human leukocyte antigen (HLA) type. Diagnosis is confirmed with the presence of anti-GBM antibody in the blood or in the kidney. The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide.	SNOMEDCT:236432001|UMLS:C0403529|MESH:D019867|NCIT:C84566|DOID:9808|http://identifiers.org/omim/233450|ORPHA:375|MEDDRA:10018620
MONDO:0012955	lung cancer susceptibility 4	biolink:Disease	mondo	UMLS:C2675479|OMIM:612593	predisposition	lung cancer susceptibility 4; LNCR4|LNCR4|lung cancer susceptibility 4	http://purl.obolibrary.org/obo/MONDO_0012955		http://identifiers.org/omim/612593|UMLS:C2675479
MONDO:0009302	XY type gonadal dysgenesis-associated anomalies syndrome	biolink:Disease	mondo	UMLS:C1856272|GARD:0002541|ICD10:Q99.1|OMIM:233430|Orphanet:1770|MESH:C565536	ordo_malformation_syndrome|gard_rare	gonadal dysgenesis, 10Y type, with associated anomalies|gonadal dysgenesis, XY type, with associated anomalies|gonadal dysgenesis XY type associated anomalies	http://purl.obolibrary.org/obo/MONDO_0009302	Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive.	http://identifiers.org/omim/233430|UMLS:C1856272|ORPHA:1770|MESH:C565536
MONDO:0012956	multiple sclerosis, susceptibility to, 2	biolink:Disease	mondo	OMIM:612594	predisposition	MS2|multiple sclerosis, susceptibility to, 2|multiple sclerosis, susceptibility to, 2; MS2	http://purl.obolibrary.org/obo/MONDO_0012956		http://identifiers.org/omim/612594
MONDO:0009301	46,XY sex reversal 7	biolink:Disease	mondo	DOID:0111774|MESH:C565537|OMIM:233420		46,XY Sex reversal, partial or complete, Dhh-related|46,XY gonadal dysgenesis, partial or complete, Dhh-related|46,XY sex reversal 7|46,XY SEX reversal 7; SRXY7|46,XY Sex reversal type 7|SRXY7|gonadal dysgenesis, XY, Male-limited	http://purl.obolibrary.org/obo/MONDO_0009301		http://identifiers.org/omim/233420|MESH:C565537|DOID:0111774
MONDO:0009300	Perrault syndrome 1	biolink:Disease	mondo	OMIM:233400		Perrault syndrome caused by mutation in HSD17B4|ovarian dysgenesis with sensorineural deafness|Perrault syndrome type 1|gonadal dysgenesis, 20 type, with deafness|PRLTS1|Perrault syndrome 1|Perrault syndrome 1; PRLTS1|HSD17B4 Perrault syndrome	http://purl.obolibrary.org/obo/MONDO_0009300	Any Perrault syndrome in which the cause of the disease is a mutation in the HSD17B4 gene.	http://identifiers.org/omim/233400
MONDO:0012959	PSORS11	biolink:Disease	mondo	DOID:0111285|OMIM:612599		PSORS11|psoriasis 11, susceptibility to; PSORS11|psoriasis 11, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0012959		http://identifiers.org/omim/612599|DOID:0111285
MONDO:0012960	intellectual disability, autosomal dominant 5	biolink:Disease	mondo	GARD:0012558|DOID:0070035|MESH:C567234|UMLS:C2675473|OMIM:612621		mental retardation, autosomal dominant 5|SYNGAP1-related NSID|mental retardation, autosomal dominant type 5|SYNGAP1 syndrome|mental retardation, autosomal dominant 5; MRD5|autosomal dominant intellectual disability 5|autosomal dominant mental retardation 5|SYNGAP1-related non-syndromic intellectual disability|MRD5|intellectual disability, autosomal dominant type 5|intellectual disability, autosomal dominant 5; MRD5|autosomal dominant non-syndromic intellectual disability 5|intellectual disability, autosomal dominant 5|autosomal dominant non-syndromic intellectual disability caused by mutation in SYNGAP1|SYNGAP1 autosomal dominant non-syndromic intellectual disability|SYNGAP1 Gene mutation linked to intellectual disability, schizophrenia and autism	http://purl.obolibrary.org/obo/MONDO_0012960	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the SYNGAP1 gene.	MESH:C567234|http://identifiers.org/omim/612621|UMLS:C2675473|DOID:0070035
MONDO:0012961	type 1 diabetes mellitus 23	biolink:Disease	mondo	UMLS:C2675472|OMIM:612622|MESH:C567233|ICD10:E10|DOID:0110760		diabetes mellitus, insulin-dependent, 23; IDDM23|diabetes mellitus, insulin-dependent, 23|insulin-dependent diabetes mellitus 23|IDDM23	http://purl.obolibrary.org/obo/MONDO_0012961	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 4q27.	MESH:C567233|http://identifiers.org/omim/612622|UMLS:C2675472|DOID:0110760
MONDO:0010301	THCYTX	biolink:Disease	mondo	OMIM:300331|UMLS:C1845888		thrombocythemia, X-linked|thrombocythemia, X-linked; THCYTX|thrombocytosis, X-linked|THCYTX	http://purl.obolibrary.org/obo/MONDO_0010301		http://identifiers.org/omim/300331|UMLS:C1845888
MONDO:0012964	chromosome 15q26-qter deletion syndrome	biolink:Disease	mondo	ICD10:Q93.5|DOID:0060397|MESH:C567232|SCTID:766050000|OMIM:612626|Orphanet:1596|UMLS:C2675463	ordo_malformation_syndrome	distal monosomy type 15q|Drayer syndrome|15q26 deletion syndrome|chromosome 15q26-qter deletion syndrome|distal 15q deletion syndrome|telomeric 15q deletion syndrome|monosomy 15q26|distal monosomy 15q	http://purl.obolibrary.org/obo/MONDO_0012964	Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.	MESH:C567232|http://identifiers.org/omim/612626|ORPHA:1596|UMLS:C2675463|SNOMEDCT:766050000|DOID:0060397
GO:1905349	ciliary transition zone assembly	biolink:OntologyClass	mondo			cilial transition zone assembly|ciliary transition zone formation|cilial transition zone formation|cilium transition zone assembly|cilium transition zone formation	http://purl.obolibrary.org/obo/GO_1905349	The aggregation, arrangement and bonding together of a set of components to form a ciliary transition zone.	
MONDO:0012965	BFIS4	biolink:Disease	mondo	OMIM:612627|UMLS:C2675462|MESH:C567231		seizures, benign familial infantile, 4; BFIS4|convulsions, benign familial infantile, 4|BFIS4|seizures, benign familial infantile, 4	http://purl.obolibrary.org/obo/MONDO_0012965		MESH:C567231|http://identifiers.org/omim/612627|UMLS:C2675462
MONDO:0010300	MRX53	biolink:Disease	mondo	UMLS:C1845889|OMIM:300324|MESH:C564533		MRX53|mental retardation, X-linked 53|intellectual disability, X-linked 53; MRX53|mental retardation, X-linked 53; MRX53|intellectual disability, X-linked 53	http://purl.obolibrary.org/obo/MONDO_0010300		UMLS:C1845889|MESH:C564533|http://identifiers.org/omim/300324
MONDO:0012962	microvascular complications of diabetes, susceptibility to, 2	biolink:Disease	mondo	OMIM:612623	predisposition	microvascular complications of diabetes, susceptibility caused by mutation in EPO|MVCD2|microvascular complications of diabetes, susceptibility to, type 2|end-stage renal disease, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility to, 2; MVCD2|microvascular complications of diabetes, susceptibility to, 2|EPO microvascular complications of diabetes, susceptibility|proliferative retinopathy, diabetic, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0012962	Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the EPO gene.	http://identifiers.org/omim/612623
MONDO:0010303	colobomatous microphthalmia	biolink:Disease	mondo	UMLS:CN228419|ICD10:Q11.2|GARD:0003644|Orphanet:98938|MESH:C537463	gard_rare|ordo_malformation_syndrome	MCOPCB1|MAC|microphthalmia associated with colobomatous cyst|microphthalmia with colobomatous cyst|microphthalmia, isolated, with coloboma 1|microphthalmos bilateral, colobomatous orbital cyst|microphthalmia-anophthalmia-coloboma syndrome	http://purl.obolibrary.org/obo/MONDO_0010303	Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.	UMLS:CN228419|MESH:C537463|ORPHA:98938
MONDO:0012963	microvascular complications of diabetes, susceptibility to, 3	biolink:Disease	mondo	OMIM:612624	predisposition	nephropathy, diabetic, susceptibility to|MVCD3|microvascular complications of diabetes, susceptibility caused by mutation in ACE|microvascular complications of diabetes, susceptibility to, type 3|end-stage renal disease, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility to, 3|microvascular complications of diabetes, susceptibility to, 3; MVCD3|ACE microvascular complications of diabetes, susceptibility	http://purl.obolibrary.org/obo/MONDO_0012963	Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the ACE gene.	http://identifiers.org/omim/612624
MONDO:0010302	Ito hypomelanosis	biolink:Disease	mondo	Orphanet:435|ICD10:Q87.8|DOID:3156|OMIM:300337|GARD:0002992	ordo_disease	hypomelanosis of Ito; HMI|Incontinentia pigmenti type 1|Incontinentia pigmenti achromians|IPA|HMI|Incontinentia pigmenti, type I, formerly|Ito|hi syndrome|Incontinentia pigmenti, type I|pigmentary mosaicism, Ito type|hypomelanosis of Ito|Ito hypomelanosis|Incontinentia pigmenti type 1 (formerly)	http://purl.obolibrary.org/obo/MONDO_0010302	Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines.	http://identifiers.org/omim/300337|ORPHA:435|DOID:3156
MONDO:0024935	foot rot	biolink:Disease	mondo	UMLS:C0016513|MESH:D005535		foot Rots|Rots, foot|rot, foot	http://purl.obolibrary.org/obo/MONDO_0024935	A disease of the horny parts and of the adjacent soft structures of the feet of cattle, swine, and sheep. It is usually caused by Corynebacterium pyogenes or Bacteroides nodosus (see dichelobacter nodosus). It is also known as interdigital necrobacillosis. (From Black's Veterinary Dictionary, 18th ed)	MESH:D005535|UMLS:C0016513
MONDO:0000968	kidney lipoma	biolink:Disease	mondo	DOID:10194|NCIT:C5101|UMLS:C1335744		kidney lipoma|renal lipoma|lipoma of kidney|lipoma of the kidney	http://purl.obolibrary.org/obo/MONDO_0000968	A rare benign adipose tissue neoplasm of the kidney. It predominantly affects middle-aged females. It may originate from renal parenchymal fat or fat cells within the renal capsule. Clinical presentation includes hematuria and pain.	DOID:10194|UMLS:C1335744|NCIT:C5101
MONDO:0000967	conventional lipoma	biolink:Disease	mondo	NCIT:C27530|DOID:10193|UMLS:C1333059		classic type lipoma|conventional lipoma	http://purl.obolibrary.org/obo/MONDO_0000967	A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones.	DOID:10193|UMLS:C1333059|NCIT:C27530
MONDO:0024934	fish disease	biolink:Disease	mondo	MESH:D005393|UMLS:C0016154		fish disease|disease, fish|diseases, fish	http://purl.obolibrary.org/obo/MONDO_0024934	Diseases of freshwater, marine, hatchery or aquarium fish. This term includes diseases of both teleosts (true fish) and elasmobranchs (sharks, rays and skates).	UMLS:C0016154|MESH:D005393
MONDO:0000966	pleomorphic lipoma	biolink:Disease	mondo	ICDO:8854/0|UMLS:C0205823|NCIT:C3703|DOID:10192|SCTID:404059000		pleomorphic lipoma|pleomorphic lipoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0000966	A benign circumscribed tumor characterized by small spindle cells, rounded hyperchromatic cells and multinucleated giant cells with radially arranged nuclei.	DOID:10192|SNOMEDCT:404059000|NCIT:C3703|UMLS:C0205823
MONDO:0000965	liver lipoma	biolink:Disease	mondo	NCIT:C5750|DOID:10190|UMLS:C1333970		lipoma of the liver|liver lipoma|hepatic lipoma|lipoma of liver	http://purl.obolibrary.org/obo/MONDO_0000965	A rare benign adipose tissue neoplasm of the liver.	NCIT:C5750|UMLS:C1333970|DOID:10190
MONDO:0000969	pleural lipoma	biolink:Disease	mondo	SCTID:2460001000004103|UMLS:C1335434|DOID:10195|NCIT:C6644		pleura lipoma|pleural lipoma|lipoma of pleura|lipoma of the pleura	http://purl.obolibrary.org/obo/MONDO_0000969	A benign adipose tissue neoplasm of the pleural cavity. It may be purely intra-thoracic or extend to the chest wall.	DOID:10195|UMLS:C1335434|SNOMEDCT:2460001000004103|NCIT:C6644
MONDO:0000982	obsolete Brown's tendon sheath syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000982		
MONDO:0000981	Histoplasma pericarditis	biolink:Disease	mondo	SCTID:187059008|DOID:10234|UMLS:C0153279|ICD9:115.93		histoplasmosis pericarditis|acute Histoplasma pericarditis|histoplasmosis with pericarditis|Histoplasma caused pericarditis (disease)|Histoplasma pericarditis (disease)	http://purl.obolibrary.org/obo/MONDO_0000981	An pericarditis (disease) caused by infection with Histoplasma.	SNOMEDCT:187059008|UMLS:C0153279|DOID:10234
MONDO:0000980	aortic atherosclerosis (disease)	biolink:Disease	mondo	ICD9:440.0|SCTID:81817003|ICD10:I70.0|HP:0012397|DOID:10230|UMLS:C0155733		aortic atherosclerosis|aorta atherosclerosis|atherosclerosis of aorta	http://purl.obolibrary.org/obo/MONDO_0000980	A atherosclerosis that involves the aorta.	UMLS:C0155733|DOID:10230|SNOMEDCT:81817003
MONDO:0000986	pleurisy	biolink:Disease	mondo	ICD9:511.8|SCTID:196075003|NCIT:C26860|UMLS:C0032231|COHD:78786|DOID:10247|MESH:D010998|EFO:1001825|ICD10:R09.1		pleura inflammation|inflammation of pleura|pleuritis	http://purl.obolibrary.org/obo/MONDO_0000986	Inflammation of the pleura. It is usually caused by infections. Chest pain while breathing or coughing is the presenting symptom.	MESH:D010998|DOID:10247|NCIT:C26860|SNOMEDCT:196075003|UMLS:C0032231
MONDO:0009319	pantothenate kinase-associated neurodegeneration	biolink:Disease	mondo	DOID:3981|UMLS:C0018523|Orphanet:157850|OMIM:234200|ICD9:333.0|GARD:0006564|MESH:D006211|ICD10:G23.0|SCTID:2992000|NCIT:C84988	ordo_disease	neuroaxonal dystrophy, late infantile|pigmentary pallidal degeneration|pantothenate kinase-associated neurodegeneration|NBIA1|neurodegeneration with brain iron accumulation type 1|neurodegeneration with brain iron accumulation 1|PKAN|Hallervorden-Spatz syndrome|brain iron accumulation type I syndrome|Hallervorden-Spatz disease|neurodegeneration with brain iron accumulation 1; NBIA1|Pkan neuroaxonal dystrophy, juvenile-onset	http://purl.obolibrary.org/obo/MONDO_0009319	Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system.	SNOMEDCT:2992000|MESH:D006211|DOID:3981|UMLS:C0018523|ORPHA:157850|http://identifiers.org/omim/234200|NCIT:C84988
MONDO:0000985	obsolete ehrlichiosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000985		
MONDO:0009318	Hallermann-Streiff syndrome	biolink:Disease	mondo	GARD:0000288|Orphanet:2108|ICD10:Q87.0|SCTID:7903009|OMIM:234100|UMLS:C0018522|NCIT:C84746|MESH:D006210|DOID:4534	ordo_malformation_syndrome|gard_rare	oculomandibulofacial syndrome|Hallermann-Streiff syndrome; HSS|Hallermann Streiff syndrome|Hallermann Streiff Francois syndrome|Hallermann's syndrome|Hallerman - Streiff syndrome|Hallermann syndrome|Hallermann-Streiff syndrome|François dyscephalic syndrome|FranC'ois dyscephalic syndrome|Francois dyscephalic syndrome|HSS	http://purl.obolibrary.org/obo/MONDO_0009318	Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases.	MESH:D006210|UMLS:C0018522|http://identifiers.org/omim/234100|NCIT:C84746|SNOMEDCT:7903009|ORPHA:2108|DOID:4534
MONDO:0000984	thalassemia	biolink:Disease	mondo	EFO:1001996|MESH:D013789|UMLS:C0039730|ICD9:282.4|ICD9:282.40|NCIT:C35069|ICD9:282.49|SCTID:40108008|ICD10:D56|GARD:0007756|DOID:10241|ICD10:D56.9|COHD:30978		sickle-cell thalassemia with crisis|thalassemia Hb-S disease with crisis|sickle-cell thalassemia without crisis|thalassemia Hb-S disease without crisis	http://purl.obolibrary.org/obo/MONDO_0000984	An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation.	NCIT:C35069|UMLS:C0039730|MESH:D013789|DOID:10241|SNOMEDCT:40108008
MONDO:0000983	exhibitionism	biolink:Disease	mondo	ICD10:F65.2|DOID:10236|SCTID:58349009|MESH:D005084|NCIT:C94352|ICD9:302.4			http://purl.obolibrary.org/obo/MONDO_0000983	A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger.	SNOMEDCT:58349009|MESH:D005084|DOID:10236|NCIT:C94352
MONDO:0009317	nonphotosensitive trichothiodystrophy	biolink:Disease	mondo	Orphanet:1245			http://purl.obolibrary.org/obo/MONDO_0009317	A trichothiodystrophy that is non-photosensitive	ORPHA:1245
MONDO:0012946	intellectual disability, autosomal dominant 3	biolink:Disease	mondo	MESH:C567241|UMLS:C2675488|DOID:0070033|OMIM:612580		autosomal dominant non-syndromic intellectual disability 3|mental retardation, autosomal dominant 3|mental retardation, autosomal dominant type 3|mental retardation, autosomal dominant 3; MRD3|MRD3|intellectual disability, autosomal dominant type 3|autosomal dominant intellectual disability 3|autosomal dominant non-syndromic intellectual disability caused by mutation in CDH15|intellectual disability, autosomal dominant 3|intellectual disability, autosomal dominant 3; MRD3|CDH15 autosomal dominant non-syndromic intellectual disability|autosomal dominant mental retardation 3	http://purl.obolibrary.org/obo/MONDO_0012946	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CDH15 gene.	DOID:0070033|MESH:C567241|http://identifiers.org/omim/612580|UMLS:C2675488
MONDO:0009316	hair defect-photosensitivity-intellectual disability syndrome	biolink:Disease	mondo	Orphanet:1408|GARD:0002582|MESH:C537628|OMIM:234030	ordo_malformation_syndrome	kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation|hair defect with photosensitivity and mental retardation|Calderon Gonzalez-Cantu syndrome|hair defect with photosensitivity and intellectual disability|kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive intellectual disability|Calderón-González-Cantu syndrome	http://purl.obolibrary.org/obo/MONDO_0009316	Calderon-Gonzalez-Cantu syndrome is characterized by the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit without a demonstrable metabolic aberration.	http://identifiers.org/omim/234030|UMLS:C1856241|ORPHA:1408|MESH:C537628
MONDO:0009315	congenital factor XII deficiency	biolink:Disease	mondo	SCTID:46981006|MESH:D005175|DOID:2231|NCIT:C131740|UMLS:C0015526|ICD9:286.3|ICD10:D68.2|Orphanet:330|OMIM:234000|GARD:0006558	ordo_disease|gard_rare	F12 deficiency|factor XII deficiency|congenital Hageman factor deficiency|deficiency, Hageman|coagulation factor 12 deficiency|Haf deficiency|Hageman Factor deficiency|factor 12 deficiency|factor XII deficiency disease	http://purl.obolibrary.org/obo/MONDO_0009315	Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.	DOID:2231|MESH:D005175|NCIT:C131740|SNOMEDCT:46981006|http://identifiers.org/omim/234000|UMLS:C0015526|ORPHA:330
MONDO:0012947	intellectual disability, autosomal dominant 4	biolink:Disease	mondo	MESH:C567240|UMLS:C2675487|DOID:0070034|OMIM:612581		mental retardation, autosomal dominant type 4|autosomal dominant non-syndromic intellectual disability 4|mental retardation, autosomal dominant 4; MRD4|MRD4|autosomal dominant non-syndromic intellectual disability caused by mutation in KIRREL3|intellectual disability, autosomal dominant type 4|autosomal dominant intellectual disability 4|intellectual disability, autosomal dominant 4|intellectual disability, autosomal dominant 4; MRD4|autosomal dominant mental retardation 4|mental retardation, autosomal dominant 4|KIRREL3 autosomal dominant non-syndromic intellectual disability	http://purl.obolibrary.org/obo/MONDO_0012947	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the KIRREL3 gene.	DOID:0070034|MESH:C567240|http://identifiers.org/omim/612581|UMLS:C2675487
MONDO:0012944	chromosome 17P13.3, telomeric, duplication syndrome	biolink:Disease	mondo	UMLS:C2675492|OMIM:612576|MESH:C567245		chromosome 17P13.3, telomeric, duplication syndrome|split-hand/foot malformation with long bone deficiency 3	http://purl.obolibrary.org/obo/MONDO_0012944		MESH:C567245|http://identifiers.org/omim/612576|UMLS:C2675492
MONDO:0009314	obsolete GTP-cyclohydrolase I deficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0009314		
MONDO:0012945	amyotrophic lateral sclerosis type 11	biolink:Disease	mondo	OMIM:612577|UMLS:C2675491|DOID:0060202|GARD:0010496|MESH:C567244	gard_rare	amyotrophic lateral sclerosis caused by mutation in FIG4|amyotrophic lateral sclerosis 11; ALS11|amyotrophic lateral sclerosis type 11|ALS11|amyotrophic lateral sclerosis 11|FIG4 amyotrophic lateral sclerosis	http://purl.obolibrary.org/obo/MONDO_0012945	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FIG4 gene.	MESH:C567244|http://identifiers.org/omim/612577|UMLS:C2675491|DOID:0060202
MONDO:0009313	Grubben-de Cock-Borghgraef syndrome	biolink:Disease	mondo	UMLS:C2931551|MESH:C537621|Orphanet:2101|ICD10:Q87.8|GARD:0002576|OMIM:233810	gard_rare|ordo_malformation_syndrome	severe growth retardation, developmental delay with hypotonia, hypotrophy of the distal extremities, dental anomalies, and eczematous skin|growth retardation, small and puffy hands and feet, and eczema|developmental delay-hypotonia-extremities hypertrophy syndrome|developmental delay - hypotonia - extremities hypertrophy|Grubben de Cock Borghgraef syndrome	http://purl.obolibrary.org/obo/MONDO_0009313	Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients.	UMLS:C2931551|ORPHA:2101|http://identifiers.org/omim/233810|MESH:C537621
MONDO:0009312	lipodystrophy due to peptidic growth factors deficiency	biolink:Disease	mondo	SCTID:724176001|GARD:0012604|MESH:C565529|UMLS:C2931279|Orphanet:1979|OMIM:233805|ICD10:E88.1|GARD:0004280	ordo_disease	combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency|Werner-like syndrome due to combined Growth Factor deficiency|growth factors, combined defect OF|peptide growth factors deficiency|Werner-like syndrome due to combined growth factor deficiency|peptidic growth factors deficiency|Hoepffner Dreyer Reimers syndrome|Hoepffner-Dreyer-Reimers syndrome|insulin, insulin-like Growth Factor I, and Epidermal Growth Factor deficiency	http://purl.obolibrary.org/obo/MONDO_0009312	Deficiency of the peptidic growth factors is characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk).	SNOMEDCT:724176001|UMLS:C2931279|http://identifiers.org/omim/233805|ORPHA:1979|MESH:C565529
MONDO:0009311	grouped pigmentation of the retina	biolink:Disease	mondo	UMLS:C1856244|OMIM:233800|MESH:C565530		grouped pigmentation of the retina|grouped pigmentation of retinal pigment epithelium|grouped pigmentation of the macula	http://purl.obolibrary.org/obo/MONDO_0009311		UMLS:C1856244|http://identifiers.org/omim/233800|MESH:C565530
MONDO:0009310	granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	biolink:Disease	mondo	DOID:0070191|OMIM:233710|MESH:C565531|UMLS:C1856245		chronic granulomatous disease caused by mutation in NCF2|Ncf2, deficiency of|neutrophil cytosol Factor 2, deficiency of|CGD, autosomal recessive cytochrome B-positive, type 2|granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type II; CDG2|granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type II|P67-PHOX, deficiency of|granulomatous disease, chronic, due to Ncf2 deficiency|NCF2 chronic granulomatous disease|CDG2	http://purl.obolibrary.org/obo/MONDO_0009310	Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF2 gene.	DOID:0070191|http://identifiers.org/omim/233710|UMLS:C1856245|MESH:C565531
MONDO:0012948	chromosome 6pter-p24 deletion syndrome	biolink:Disease	mondo	ICD10:Q93.5|MESH:C567239|DOID:0060422|OMIM:612582|SCTID:718688008|UMLS:C4305276|Orphanet:96125|UMLS:C2675486	ordo_malformation_syndrome	distal deletion 6p|chromosome 6pter-p24 deletion syndrome|6p subtelomeric deletion syndrome|monosomy 6p25|6p25 microdeletion syndrome|distal monosomy type 6p|distal monosomy 6p	http://purl.obolibrary.org/obo/MONDO_0012948	Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.	SNOMEDCT:718688008|DOID:0060422|MESH:C567239|UMLS:C4305276|http://identifiers.org/omim/612582|UMLS:C2675486|ORPHA:96125
MONDO:0012949	ANIB9	biolink:Disease	mondo	UMLS:C2675485|MESH:C567238|OMIM:612586		aneurysm, intracranial BERRY, 9|aneurysm, intracranial BERRY, 9; ANIB9|ANIB9	http://purl.obolibrary.org/obo/MONDO_0012949		MESH:C567238|http://identifiers.org/omim/612586|UMLS:C2675485
MONDO:0012950	ANIB10	biolink:Disease	mondo	MESH:C567237|OMIM:612587|UMLS:C2675484		ANIB10|aneurysm, intracranial BERRY, 10; ANIB10|aneurysm, intracranial BERRY, 10	http://purl.obolibrary.org/obo/MONDO_0012950		MESH:C567237|http://identifiers.org/omim/612587|UMLS:C2675484
MONDO:0012953	colorectal cancer, susceptibility to, 10	biolink:Disease	mondo	OMIM:612591	predisposition	colorectal cancer caused by mutation in POLD1|colorectal cancer, susceptibility to, on chromosome 19Q|colorectal cancer, susceptibility to, type 10|colorectal cancer, susceptibility to, 10; CRCS10|CRCS10|susceptibility to colorectal cancer 10|colorectal cancer, susceptibility to, 10|POLD1 colorectal cancer	http://purl.obolibrary.org/obo/MONDO_0012953	Any colorectal cancer in which the cause of the disease is a mutation in the POLD1 gene.	http://identifiers.org/omim/612591
MONDO:0012954	colorectal cancer, susceptibility to, 11	biolink:Disease	mondo	OMIM:612592	predisposition	colorectal cancer, susceptibility to, 11|CRCS11|colorectal cancer, susceptibility to, 11; CRCS11|colorectal cancer, susceptibility to, on chromosome 20P	http://purl.obolibrary.org/obo/MONDO_0012954		http://identifiers.org/omim/612592
MONDO:0012951	CRCS8	biolink:Disease	mondo	OMIM:612589	predisposition	CRCS8|colorectal cancer, susceptibility to, 8; CRCS8|colorectal cancer, susceptibility to, on chromosome 14Q|colorectal cancer, susceptibility to, 8	http://purl.obolibrary.org/obo/MONDO_0012951		http://identifiers.org/omim/612589
MONDO:0012952	CRCS9	biolink:Disease	mondo	OMIM:612590	predisposition	colorectal cancer, susceptibility to, 9|CRCS9|colorectal cancer, susceptibility to, 9; CRCS9|colorectal cancer, susceptibility to, on chromosome 16Q	http://purl.obolibrary.org/obo/MONDO_0012952		http://identifiers.org/omim/612590
MONDO:0000979	pinta disease	biolink:Disease	mondo	UMLS:C0031946|ICD9:103|NCIT:C85011|ICD9:103.9|GARD:0007397|ICD10:A67.3|ICD10:A67.2|SCTID:22064009|ICD10:A67.1|ICD10:A67.0|ICD10:A67|EFO:1001396|ICD9:103.3|DOID:1022|ICD9:103.2|ICD9:103.1|ICD10:A67.9|ICD9:103.0|MESH:D010874		endemic treponematosis caused by Treponema carateum|Mal del pinto|Empeines|Azul|Lota|Carate|infection by Treponema carateum|pinta|Tina	http://purl.obolibrary.org/obo/MONDO_0000979	An endemic bacterial infection caused by Treponema carateum. It is manifested with chronic cutaneous lesions. The early lesions consist of papules and erythematous plaques. The late lesions consist of hypochromic, achromic, hyperpigmented and atrophic lesions. The late skin lesions may cause destruction of bones and cartilage and produce disfiguring changes.	UMLS:C0031946|SNOMEDCT:22064009|DOID:1022|NCIT:C85011|MESH:D010874
MONDO:0000978	extrahepatic bile duct lipoma	biolink:Disease	mondo	NCIT:C5854|DOID:10209|UMLS:C1333509		lipoma of the extrahepatic bile duct|lipoma of extrahepatic bile duct|extrahepatic bile duct lipoma	http://purl.obolibrary.org/obo/MONDO_0000978	A rare benign adipose tissue neoplasm of the extrahepatic bile duct.	NCIT:C5854|UMLS:C1333509|DOID:10209
MONDO:0000977	chondroid lipoma	biolink:Disease	mondo	UMLS:C1266131|DOID:10208|SCTID:404065000|NCIT:C6503|ICDO:8862/0			http://purl.obolibrary.org/obo/MONDO_0000977	A rare benign adipose tissue neoplasm characterized by nests and cord of abundant univacuolated and multivacuolated lipoblasts and mature adipocytes in a prominent myxoid to hyalinized chondroid matrix admix. It predominantly affects females.	UMLS:C1266131|NCIT:C6503|DOID:10208|SNOMEDCT:404065000
MONDO:0000976	paratesticular lipoma	biolink:Disease	mondo	UMLS:C1335348|DOID:10207|NCIT:C6384		paratesticular lipoma	http://purl.obolibrary.org/obo/MONDO_0000976	A rare benign adipose tissue neoplasm of the paratesticular tissues. It is incidentally discovered and presents as a non-tender scrotal mass. It affects patients over a wide age range.	NCIT:C6384|DOID:10207|UMLS:C1335348
PO:0025023	collective phyllome structure	biolink:OntologyClass	mondo	PO_GIT:90|PO_GIT:99	TraitNet	floral whorl (narrow)|phyllome whorl (related)|cycle (broad)|estructura colectiva del filoma (Spanish, exact)|whorl (narrow)|verticil (broad)|葉的器官が集まった構造 (Japanese, exact)	http://purl.obolibrary.org/obo/PO_0025023	A collective plant organ structure (PO:0025007) that consists of two or more phyllomes (PO:0006001) originating from the same node or from one or more adjacent nodes with compressed shoot internodes (PO:0005005).	
GO:2000348	regulation of CD40 signaling pathway	biolink:OntologyClass	mondo			regulation of CD40 signalling pathway	http://purl.obolibrary.org/obo/GO_2000348	Any process that modulates the frequency, rate or extent of signaling via the CD40 signaling pathway.	
GO:2000349	negative regulation of CD40 signaling pathway	biolink:OntologyClass	mondo			negative regulation of CD40 signalling pathway	http://purl.obolibrary.org/obo/GO_2000349	Any process that stops, prevents or reduces the frequency, rate or extent of signaling via the CD40 signaling pathway.	
CHEBI:28044	phenylalanine	biolink:ChemicalSubstance	mondo			Phenylalanine|phenylalanine|F|fenilalanina|alpha-Amino-beta-phenylpropionic acid|Phenylalanin|2-amino-3-phenylpropanoic acid|DL-Phenylalanine|PHE	http://purl.obolibrary.org/obo/CHEBI_28044	An aromatic amino acid that is alanine in which one of the methyl hydrogens is substituted by a phenyl group.	
HP:0001288	Gait disturbance	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:22325002|UMLS:C0575081		Abnormal walk|Gait abnormalities|Abnormal gait|Gait difficulties|Gait disturbances|Impaired gait	http://purl.obolibrary.org/obo/HP_0001288	The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.	
HP:0001289	Confusion	biolink:PhenotypicFeature	mondo	MSH:D003221|SNOMEDCT_US:286933003|UMLS:C0009676		Confusion|Disorientation|Easily confused|Mental disorientation	http://purl.obolibrary.org/obo/HP_0001289	Lack of clarity and coherence of thought, perception, understanding, or action.	
HP:0001287	Meningitis	biolink:PhenotypicFeature	mondo	UMLS:C0025289|MSH:D008581|SNOMEDCT_US:7180009			http://purl.obolibrary.org/obo/HP_0001287	Inflammation of the meninges.	
NCBITaxon:1489388	Euteleosteomorpha	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1489388		
CHEBI:53000	epitope	biolink:ChemicalSubstance	mondo			antigenic determinant|epitope function|epitope role	http://purl.obolibrary.org/obo/CHEBI_53000	The biological role played by a material entity when bound by a receptor of the adaptive immune system. Specific site on an antigen to which an antibody binds.	
CHEBI:65001	EC 3.1.1.3 (triacylglycerol lipase) inhibitor	biolink:ChemicalSubstance	mondo			pancreatic lipase inhibitor|GEH inhibitor|salt-resistant post-heparin lipase inhibitor|triglyceride hydrolase inhibitor|liver lipase inhibitor|steapsin inhibitors|glycerol-ester hydrolase inhibitors|triolein hydrolase inhibitor|Tweenase inhibitor|cacordase inhibitors|triacylglycerol lipase inhibitors|Tweenase inhibitors|cacordase inhibitor|triacylglycerol lipase inhibitor|glycerol-ester hydrolase inhibitor|tween-hydrolysing esterase inhibitor|triolein hydrolase inhibitors|steapsin inhibitor|GEH inhibitors|triglyceride hydrolase inhibitors|liver lipase inhibitors|salt-resistant post-heparin lipase inhibitors|pancreatic lipase inhibitors|tributyrase inhibitor|butyrinase inhibitor|Tweenesterase inhibitors|hepatic monoacylglycerol acyltransferase inhibitor|tributyrin esterase inhibitors|EC 3.1.1.3 inhibitors|PPL inhibitors|triacylglycerol ester hydrolase inhibitor|glycerol ester hydrolase inhibitor|post-heparin plasma protamine-resistant lipase inhibitors|Tween hydrolase inhibitor|triglyceride lipase inhibitors|capalase L inhibitor|triacetinase inhibitor|tween-hydrolyzing esterase inhibitors|EC 3.1.1.3 (triacylglycerol lipase) inhibitors|pancreatic triacylglycerol lipase inhibitor|heparin releasable hepatic lipase inhibitor|triglyceridase inhibitor|triacylglycerol lipase (EC 3.1.1.3) inhibitors|lipazin inhibitor|hepatic lipase inhibitor|tributyrinase inhibitors|lipase inhibitor|hepatic lipase inhibitors|lipase inhibitors|tributyrinase inhibitor|lipazin inhibitors|pancreatic triacylglycerol lipase inhibitors|heparin releasable hepatic lipase inhibitors|triglyceridase inhibitors|triacylglycerol lipase (EC 3.1.1.3) inhibitor|post-heparin plasma protamine-resistant lipase inhibitor|triglyceride lipase inhibitor|triacetinase inhibitors|Tween hydrolase inhibitors|capalase L inhibitors|triacylglycerol ester hydrolase inhibitors|PPL inhibitor|EC 3.1.1.3 inhibitor|tributyrin esterase inhibitor|glycerol ester hydrolase inhibitors|butyrinase inhibitors|Tweenesterase inhibitor|tributyrase inhibitors|hepatic monoacylglycerol acyltransferase inhibitors	http://purl.obolibrary.org/obo/CHEBI_65001	Any EC 3.1.1.* (carboxylic ester hydrolase) inhibitor that inhibits the action of triacylglycerol lipase (EC 3.1.1.3).	
GO:2000350	positive regulation of CD40 signaling pathway	biolink:OntologyClass	mondo			positive regulation of CD40 signalling pathway	http://purl.obolibrary.org/obo/GO_2000350	Any process that activates or increases the frequency, rate or extent of signaling via the CD40 signaling pathway.	
HP:0001297	Stroke	biolink:PhenotypicFeature	mondo	UMLS:C0038454|SNOMEDCT_US:230690007|MSH:D020521		Cerebrovascular accidents|Cerebral vascular events|Cerebrovascular accident|Stroke	http://purl.obolibrary.org/obo/HP_0001297	Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.	
UBERON_CORE:subdivision_of	subdivision of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/uberon/core#subdivision_of		
HP:0001298	Encephalopathy	biolink:PhenotypicFeature	mondo	MSH:D001927|SNOMEDCT_US:81308009|UMLS:C0085584			http://purl.obolibrary.org/obo/HP_0001298	Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.	
PO:0025007	collective plant organ structure	biolink:OntologyClass	mondo	PO_GIT:63	TraitNet	集合植物器官構造 (Japanese, exact)|estructura vegetal colectiva de &#243rgano (Spanish, exact)	http://purl.obolibrary.org/obo/PO_0025007	A collective plant structure (PO:0025497) that is a proper part of a whole plant (PO:0000003), and is composed of two or more adjacent plant organs (PO:0009008) and the associated portions of plant tissue (PO:0009007).	
CHEBI:16042	halide anion	biolink:ChemicalSubstance	mondo			halide(1-)|halides|halide ions|Halide|a halide anion|halide anions|HX|halogen anion	http://purl.obolibrary.org/obo/CHEBI_16042	A monoatomic monoanion resulting from the addition of an electron to any halogen atom.	
CHEBI:28024	cyanic acid	biolink:ChemicalSubstance	mondo			hydrogen nitridooxocarbonate|Zyansaeure|[C(N)OH]|Cyanic acid|Cyansaeure|HOCN|hydroxidonitridocarbon|nitridooxocarbonic acid	http://purl.obolibrary.org/obo/CHEBI_28024		
HP:0025234	Parasomnia	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0025234	An undesirable physical event or experience that occur during entry into sleep, during sleep, or during arousal from sleep.	
HP:0001268	Mental deterioration	biolink:PhenotypicFeature	mondo	MSH:D060825|UMLS:C0234985		Progressive cognitive decline|Intellectual deterioration|Cognitive decline, progressive|Mental deterioration|Cognitive decline	http://purl.obolibrary.org/obo/HP_0001268	Loss of previously present mental abilities, generally in adults.	
HP:0001269	Hemiparesis	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:127377003|UMLS:C0018989|MSH:D010291|SNOMEDCT_US:20022000		Weakness of one side of body	http://purl.obolibrary.org/obo/HP_0001269	Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.	
HP:0001262	Excessive daytime somnolence	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:79519003|UMLS:C2830004|SNOMEDCT_US:271782001		More than typical sleepiness during day|Excessive daytime sleepiness	http://purl.obolibrary.org/obo/HP_0001262	A state of abnormally strong desire for sleep during the daytime.	
HP:0001260	Dysarthria	biolink:PhenotypicFeature	mondo	MSH:D004401|SNOMEDCT_US:8011004|UMLS:C0013362		Difficulty articulating speech|Dysarthric speech	http://purl.obolibrary.org/obo/HP_0001260	Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.	
GO:0004509	steroid 21-monooxygenase activity	biolink:OntologyClass	mondo			cytochrome p450 XXIA1 activity|steroid,hydrogen-donor:oxygen oxidoreductase (21-hydroxylating)|cytochrome P450 CYP21A1|steroid 21-hydroxylase activity|21-hydroxylase activity	http://purl.obolibrary.org/obo/GO_0004509	Catalysis of the reaction: A C(21) steroid + [reduced NADPH--hemoprotein reductase] + O(2) = a 21-hydroxy-C(21)-steroid + [oxidized NADPH--hemoprotein reductase] + H(2)O.	
HP:0001276	Hypertonia	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:41581000|MSH:D009122|SNOMEDCT_US:56731001|UMLS:C0026826		Spasticity and rigidity of muscles|Hypertonicity|Muscle hypertonia|Increased muscle tone	http://purl.obolibrary.org/obo/HP_0001276	A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.	
HP:0001279	Syncope	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:272030005|SNOMEDCT_US:271594007|MSH:D013575|UMLS:C0039070|SNOMEDCT_US:309585006		Fainting spell	http://purl.obolibrary.org/obo/HP_0001279	Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.	
HP:0001273	Abnormal corpus callosum morphology	biolink:PhenotypicFeature	mondo	UMLS:C1842581		Abnormal corpus callosum|Corpus callosum abnormality|Abnormality of the corpus callosum	http://purl.obolibrary.org/obo/HP_0001273	Abnormality of the corpus callosum.	
HGNC:4401	GNB5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4401		
HP:0001274	Agenesis of corpus callosum	biolink:PhenotypicFeature	mondo	Fyler:4321|UMLS:C0175754|SNOMEDCT_US:5102002|MSH:D061085		Absence of corpus callosum|Absent corpus callosum|Callosal agenesis|Dysplastic or absent corpus callosum|Corpus callosum agenesis|Agenesis of the corpus callosum	http://purl.obolibrary.org/obo/HP_0001274	Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.	
HGNC:4400	GNB3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4400		
NCBITaxon:451870	Chaetothyriomycetidae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_451870		
NCBITaxon:451871	Eurotiomycetidae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_451871		
UBERON:0006003	integumentary adnexa	biolink:AnatomicalEntity	mondo			skin adnexa|skin appendage|body hair or bristle|adnexae cutis|skin adnexal structure	http://purl.obolibrary.org/obo/UBERON_0006003	Anatomical structure embedded in or located in the integument that is part of the integumental system. Examples: hair, follicles, skin glands, claws, nails, feathers.	
UBERON:0006002	vitelline artery	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006002	The paired arteries that carry blood to the yolk sac from the dorsal aorta	
HGNC:4416	GNPAT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4416		
CHEBI:16015	L-glutamic acid	biolink:ChemicalSubstance	mondo			(S)-glutamic acid|GLUTAMIC ACID|glutamic acid|Glutamate|(S)-2-aminopentanedioic acid|acide glutamique|Glu|L-Glu|L-Glutaminic acid|acidum glutamicum|L-glutamic acid|acido glutamico|L-Glutamic acid|L-Glutaminsaeure|(2S)-2-aminopentanedioic acid|E	http://purl.obolibrary.org/obo/CHEBI_16015	An optically active form of glutamic acid having L-configuration.	
HGNC:4415	GNMT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4415		
UBERON:0006009	cusp of cardiac valve	biolink:AnatomicalEntity	mondo			cardiac valvule|cardiac valve cusp|semilunar valvule|cardiac valvular cusp|cardial valve cusp	http://purl.obolibrary.org/obo/UBERON_0006009	The part of the heart valves that serves to seal the heart valves when closed. There are three cusps for each valve except for the mitral valve, which has only two (hence its alternate name, 'bicuspid valve'). 'Nodules' are located at the tip of the valve, to form a tighter seal[WP].	
UBERON:0006008	fibrous ring of heart	biolink:AnatomicalEntity	mondo			annulus fibrosus cordis|fibrous ring of heart|atrioventricular ring|anulus fibrosus cordis|coronary tendon|Lower's ring|aortic annulus|anulus fibrosus of heart	http://purl.obolibrary.org/obo/UBERON_0006008	A ring of ribrous tissue that surrounds the atrioventricular and arterial orifices	
NCBITaxon:451864	Dikarya	organism taxon	mondo	PMID:17572334|PMID:16151185|PMID:17051209|GC_ID:1|PMID:15689432|PMID:17010206			http://purl.obolibrary.org/obo/NCBITaxon_451864		
HGNC:4419	GNRH1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4419		
OBO:CP_0000043	cartwheel heterochromatin	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CP_0000043	Heterochromatin that is arranged in a carthwheel pattern.	
NCBITaxon:451866	Taphrinomycotina	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_451866		
NCBITaxon:451867	Dothideomycetidae	organism taxon	mondo	GC_ID:1|PMID:17486979			http://purl.obolibrary.org/obo/NCBITaxon_451867		
NCBITaxon:451868	Pleosporomycetidae	organism taxon	mondo	GC_ID:1|PMID:17486979			http://purl.obolibrary.org/obo/NCBITaxon_451868		
GO:2000310	regulation of NMDA receptor activity	biolink:OntologyClass	mondo			regulation of N-methyl-D-aspartate selective glutamate receptor activity	http://purl.obolibrary.org/obo/GO_2000310	Any process that modulates the frequency, rate or extent of N-methyl-D-aspartate selective glutamate receptor activity.	
HGNC:4422	GNS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4422		
HGNC:4421	GNRHR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4421		
NCBITaxon:147573	Piedraia hortae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_147573		
NCBITaxon:147571	Piedraiaceae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_147571		
NCBITaxon:147572	Piedraia	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_147572		
HGNC:4428	GOLGA5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4428		
NCBITaxon:206351	Neisseriales	organism taxon	mondo	PMID:23575986|GC_ID:11|PMID:16403855			http://purl.obolibrary.org/obo/NCBITaxon_206351		
HP:0025278	Cold-induced sweating	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0025278	Sweating provoked by cold temperature rather than by heat.	
OBO:CP_0000037	increased nucleus size	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CP_0000037	A nucleus size quality which is relatively high compared to the amount of cytoplasm present in the same cell.	
HP:0025270	Abnormality of esophagus physiology	biolink:PhenotypicFeature	mondo			Abnormality of oesophagus physiology|Functional abnormality of the esophagus	http://purl.obolibrary.org/obo/HP_0025270	Any physiological abnormality of the esophagus.	
OBO:CP_0000035	polychromatophilic cytoplasm	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CP_0000035	Cytoplasm that exhibits affinity for both basic and acid stains under specific pH conditions.	
HGNC:4431	GOSR2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4431		
HP:0025276	Abnormality of skin adnexa physiology	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0025276	Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.	
HGNC:4439	GP1BA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4439		
HGNC:4440	GP1BB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4440		
OBO:CP_0000027	acidophilic cytoplasm	biolink:Cell	mondo			eosinophilic	http://purl.obolibrary.org/obo/CP_0000027	Cytoplasm that exhibits a characteristic staining and color, red or pink, with Eosin stain.	
NCBITaxon:147553	Pneumocystidomycetes	organism taxon	mondo	GC_ID:1		Archiascomycota	http://purl.obolibrary.org/obo/NCBITaxon_147553		
HGNC:4446	GPAA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4446		
HGNC:4444	GP9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4444		
OBO:CP_0000028	basophilic cytoplasm	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CP_0000028	Cytoplasm that exhibits molecular interaction for basic dyes under specific pH conditions.	
NCBITaxon:147550	Sordariomycetes	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_147550		
NCBITaxon:147545	Eurotiomycetes	organism taxon	mondo	GC_ID:1		Plectomycetes|Loculoascomycetes|bitunicate ascomycetes	http://purl.obolibrary.org/obo/NCBITaxon_147545		
FOODON:03510136	food consumer group	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03510136	A food consumer group is a class of organism based on their heterotrophic requirements or preferences.	
OBO:CP_0000000	neutrophillic cytoplasm	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CP_0000000	Cytoplasm that exhibits a characteristic staining and color, pale-pink, with Wright-Giemsa stain.	
NCBITaxon:147541	Dothideomycetes	organism taxon	mondo	GC_ID:1		Loculoascomycetes|bitunicate ascomycetes	http://purl.obolibrary.org/obo/NCBITaxon_147541		
GO:0016595	glutamate binding	biolink:OntologyClass	mondo			glutamic acid binding	http://purl.obolibrary.org/obo/GO_0016595	Interacting selectively and non-covalently with glutamate, the anion of 2-aminopentanedioic acid.	
GO:0016597	amino acid binding	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016597	Interacting selectively and non-covalently with an amino acid, organic acids containing one or more amino substituents.	
NCBITaxon:147537	Saccharomycotina	organism taxon	mondo	GC_ID:1		true yeasts	http://purl.obolibrary.org/obo/NCBITaxon_147537		
NCBITaxon:147538	Pezizomycotina	organism taxon	mondo	GC_ID:1		Euascomycota	http://purl.obolibrary.org/obo/NCBITaxon_147538		
MONDO:0022397	retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene	biolink:Disease	mondo	Orphanet:156168	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0022397		ORPHA:156168
MONDO:0022398	aglossia and situs inversus	biolink:Disease	mondo	GARD:0009211	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022398	A disease characterized by complete absence of tongue that can also be associated with limb deformities, syndromes and aberrant positioning of the visceral organs.	
MONDO:0022399	retinal ciliopathy due to mutation in the rpgr gene	biolink:Disease	mondo	Orphanet:156171	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0022399		ORPHA:156171
MONDO:0022394	cervical intraepithelial neoplasia	biolink:Disease	mondo	UMLS:C0206708|MEDGEN:60214|SCTID:285636001|GARD:0009244	gard_rare	Neoplasms, Cervical Intraepithelial|Intraepithelial Neoplasms, Cervical|Cervix Intraepithelial Neoplasia|Cervical Intraepithelial Neoplasm|Cervical Intraepithelial Neoplasia|Cervical intraepithelial neoplasia|Cervical Intraepithelial Neoplasms|Cervix Uteri Intraepithelial Neoplasia|NEOPL CERVICAL INTRAEPITHELIAL|Neoplasm, Cervical Intraepithelial|Uterine Cervix Intraepithelial Neoplasia|Intraepithelial Neoplasm, Cervical|Intraepithelial Neoplasia of Cervix|Intraepithelial Neoplasia of the Cervix|Intraepithelial Neoplasia of Cervix Uteri|Intraepithelial Neoplasia of the Cervix Uteri|Intraepithelial Neoplasia of Uterine Cervix|Intraepithelial Neoplasia of the Uterine Cervix|Intraepithelial Neoplasia, Cervical|Neoplasia, Cervical Intraepithelial|Cervical Dysplasia	http://purl.obolibrary.org/obo/MONDO_0022394		SNOMEDCT:285636001|UMLS:C0206708
GO:0004565	beta-galactosidase activity	biolink:OntologyClass	mondo			S 2107|sumiklat|exo-(1->4)-beta-D-galactanase activity|beta-D-galactanase activity|beta-lactosidase activity|trilactase activity|maxilact|oryzatym|beta-D-galactoside galactohydrolase activity|beta-D-lactosidase activity|hydrolact|lactozym|lactose hydrolysis	http://purl.obolibrary.org/obo/GO_0004565	Catalysis of the hydrolysis of terminal, non-reducing beta-D-galactose residues in beta-D-galactosides.	
GO:0004566	beta-glucuronidase activity	biolink:OntologyClass	mondo			ketodase activity|exo-beta-D-glucuronidase activity|beta-glucuronide glucuronohydrolase activity|glucuronidase activity|beta-D-glucuronoside glucuronosohydrolase activity	http://purl.obolibrary.org/obo/GO_0004566	Catalysis of the reaction: a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate.	
GO:0004561	alpha-N-acetylglucosaminidase activity	biolink:OntologyClass	mondo			N-acetyl-alpha-D-glucosaminidase activity|NAG activity|alpha-N-acetyl-D-glucosaminide N-acetylglucosaminohydrolase activity|alpha-D-2-acetamido-2-deoxyglucosidase activity|N-acetyl-alpha-glucosaminidase activity|alpha-acetylglucosaminidase activity	http://purl.obolibrary.org/obo/GO_0004561	Catalysis of the hydrolysis of terminal non-reducing N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides.	
GO:0004563	beta-N-acetylhexosaminidase activity	biolink:OntologyClass	mondo			N-acetyl-beta-glucosaminidase activity|beta-N-acetyl-D-hexosaminidase activity|beta-D-hexosaminidase activity|beta-D-N-acetylhexosaminidase activity|beta-acetylhexosaminidinase activity|N-acetyl-beta-D-hexosaminidase activity|beta-hexosaminidase activity|beta-N-acetyl-D-hexosaminide N-acetylhexosaminohydrolase activity|hexosaminidase A|N-acetyl-beta-hexosaminidase activity|beta-acetylaminodeoxyhexosidase activity|N-acetylhexosaminidase activity	http://purl.obolibrary.org/obo/GO_0004563	Catalysis of the hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides.	
GO:2000382	positive regulation of mesoderm development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000382	Any process that activates or increases the frequency, rate or extent of mesoderm development.	
HP:0001249	Intellectual disability	biolink:PhenotypicFeature	mondo	UMLS:C4020876|UMLS:C0025362|MSH:D008607|UMLS:C0423903|SNOMEDCT_US:91138005|SNOMEDCT_US:247578003|UMLS:C3714756|SNOMEDCT_US:228156007|UMLS:C1843367|UMLS:C0917816		Mental deficiency|Mental-retardation|Mental retardation, nonspecific|Poor school performance|Mental retardation|Intellectual disability|Low intelligence|Nonprogressive mental retardation|Nonprogressive intellectual disability|Dull intelligence	http://purl.obolibrary.org/obo/HP_0001249	Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.	
NCBITaxon:1489341	Osteoglossocephalai	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1489341		
GO:2000380	regulation of mesoderm development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000380	Any process that modulates the frequency, rate or extent of mesoderm development.	
GO:2000381	negative regulation of mesoderm development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000381	Any process that stops, prevents or reduces the frequency, rate or extent of mesoderm development.	
HGNC:23594	VPS13C	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23594		
HP:0001254	Lethargy	biolink:PhenotypicFeature	mondo	MSH:D053609|SNOMEDCT_US:214264003|UMLS:C0023380		Lethargy	http://purl.obolibrary.org/obo/HP_0001254	A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.	
HP:0001259	Coma	biolink:PhenotypicFeature	mondo	ICD-10:R40.2|UMLS:C0009421|MSH:D003128|SNOMEDCT_US:371632003		Coma	http://purl.obolibrary.org/obo/HP_0001259	Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli.	
HP:0001257	Spasticity	biolink:PhenotypicFeature	mondo	UMLS:C0026838|SNOMEDCT_US:397790002|MSH:D009128|SNOMEDCT_US:221360009		Muscular spasticity|Muscle spasticity|Involuntary muscle stiffness, contraction, or spasm	http://purl.obolibrary.org/obo/HP_0001257	A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.	
HP:0001251	Ataxia	biolink:PhenotypicFeature	mondo	UMLS:C0007758|SNOMEDCT_US:85102008|MSH:D002524		Cerebellar ataxia	http://purl.obolibrary.org/obo/HP_0001251	Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).	
HP:0001252	Muscular hypotonia	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:398152000|SNOMEDCT_US:398151007|MSH:D009123|UMLS:C0026827		Muscle hypotonia|Low or weak muscle tone	http://purl.obolibrary.org/obo/HP_0001252	Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching. Muscular hypotonia may be related to defects in skeletal muscle, neuromuscular junction, or peripheral nerve.	
HP:0001250	Seizure	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:91175000|MSH:D012640|SNOMEDCT_US:128613002|SNOMEDCT_US:246545002|UMLS:C0014544|SNOMEDCT_US:313307000|UMLS:C0036572|MSH:D004827|SNOMEDCT_US:84757009		Epileptic seizure|Seizures|Epilepsy	http://purl.obolibrary.org/obo/HP_0001250	A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.	
HGNC:23564	MIR17HG	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23564		
HGNC:11588	TBP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11588		
HGNC:11584	TBK1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11584		
HGNC:11582	TBCE	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11582		
HGNC:11581	TBCD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11581		
GO:0004557	alpha-galactosidase activity	biolink:OntologyClass	mondo			alpha-D-galactoside galactohydrolase activity|alpha-D-galactosidase activity|alpha-galactoside galactohydrolase activity|melibiase activity|alpha-galactosidase A	http://purl.obolibrary.org/obo/GO_0004557	Catalysis of the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-D-galactosides, including galactose oligosaccharides, galactomannans and galactohydrolase.	
GO:0004559	alpha-mannosidase activity	biolink:OntologyClass	mondo			1,2-alpha-mannosidase|exo-alpha-mannosidase activity|alpha-D-mannopyranosidase activity|alpha-D-mannoside mannohydrolase activity|p-nitrophenyl-alpha-mannosidase activity|1,2-alpha-D-mannosidase activity|alpha-D-mannosidase activity	http://purl.obolibrary.org/obo/GO_0004559	Catalysis of the hydrolysis of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides.	
GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds	biolink:OntologyClass	mondo			O-glucosyl hydrolase activity	http://purl.obolibrary.org/obo/GO_0004553	Catalysis of the hydrolysis of any O-glycosyl bond.	
GO:0004555	alpha,alpha-trehalase activity	biolink:OntologyClass	mondo			alpha,alpha-trehalose glucohydrolase activity	http://purl.obolibrary.org/obo/GO_0004555	Catalysis of the reaction: alpha,alpha-trehalose + H2O = 2 D-glucose.	
HGNC:23573	MORC2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23573		
HGNC:11599	TBX21	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11599		
HGNC:11598	TBX20	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11598		
HP:0001231	Abnormal fingernail morphology	biolink:PhenotypicFeature	mondo	UMLS:C4021782		Abnormal fingernails|Abnormality of the fingernails	http://purl.obolibrary.org/obo/HP_0001231	An abnormality of the fingernails.	
HGNC:11596	TBX19	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11596		
HGNC:11595	TBX18	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11595		
HGNC:11594	TBX15	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11594		
HGNC:11592	TBX1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11592		
MONDO:0022220	Parinaud syndrome	biolink:Disease	mondo	NCIT:C54102|UMLS:C0152222|MEDGEN:57754|SCTID:37991008		Syndrome, Parinaud|Parinaud syndrome|vertical gaze palsy - parinaud|Parinaud's Syndrome|Syndrome, Parinaud's|dorsal midbrain syndrome|Parinaud's ophthalmoplegia|Parinaud Syndrome|Parinauds Syndrome|parinaud syndrome|dorsal midbrain syndrome|Paralysis of vertical movement|parinaud's ophthalmoplegia|Vertical gaze palsy - Parinaud|parinaud syndrome|Parinaud's syndrome|Dorsal Midbrain Syndrome|Dorsal midbrain syndrome|paralysis of vertical movement|parinaud's syndrome	http://purl.obolibrary.org/obo/MONDO_0022220	A rare syndrome affecting conjugate vertical eye movement. It is often caused by a dorsal midbrain neoplasm, commonly a pinealoma, but may also be attributable to demyelinating diseases or stroke. Clinical signs include limitation of upward gaze, light-near dissociation of the pupillary response, eyelid retraction (Collier's sign) and convergence-retraction nystagmus. Clinical course is dependent on effective treatment of underlying cause.	SNOMEDCT:37991008|NCIT:C54102|UMLS:C0152222
MONDO:0024883	metastatic neoplasm	biolink:Disease	mondo	ICDO:8000/6|NCIT:C3261		metastatic neoplasm|metastatic tumor|metastatic disease	http://purl.obolibrary.org/obo/MONDO_0024883	A tumor that has spread from its original (primary) site of growth to another site, close to or distant from the primary site. Metastasis is characteristic of advanced malignancies, but in rare instances can be seen in neoplasms lacking malignant morphology.	NCIT:C3261
MONDO:0024882	secondary neoplasm	biolink:Disease	mondo	NCIT:C36255		secondary neoplasm|secondary tumor	http://purl.obolibrary.org/obo/MONDO_0024882	A neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment.	NCIT:C36255
MONDO:0024885	malignant ovarian serous tumor	biolink:Disease	mondo	NCIT:C40025		ovarian serous tumor, malignant|malignant ovarian serous tumor	http://purl.obolibrary.org/obo/MONDO_0024885	An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia. It includes serous adenocarcinoma and serous adenocarcinofibroma.	NCIT:C40025
HGNC:23663	VKORC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23663		
MONDO:0024884	metastatic carcinoma in the bone	biolink:Disease	mondo	NCIT:C36082|UMLS:C0700110		metastatic carcinoma in the bone|metastatic carcinoma to the bone	http://purl.obolibrary.org/obo/MONDO_0024884	A carcinoma that has spread to the bone from another, primary anatomic site. Bone is one of the most frequent sites of metastatic carcinoma. Common sites of origin include lung, breast, and prostate.	UMLS:C0700110|NCIT:C36082
NCBITaxon:279271	Leptotrombidium	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_279271		
MONDO:0024886	serous adenofibroma	biolink:Disease	mondo	NCIT:C67090|ICDO:9014/0|UMLS:C0334498		serous adenofibroma	http://purl.obolibrary.org/obo/MONDO_0024886	A benign adenofibroma characterized by the presence of serous secretory cells and minute cystic spaces filled with watery fluid. A representative example is the ovarian serous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline serous adenofibromas and have a low grade malignant potential.	NCIT:C67090|UMLS:C0334498
MONDO:0024889	benign mesonephroma	biolink:Disease	mondo	ICDO:9110/0|NCIT:C4294|UMLS:C0334530|DOID:2616		mesonephric neoplasm, benign|benign mesonephric neoplasm|mesonephric adenoma|Mesonephroma, benign (morphologic abnormality)|mesonephric duct adenoma|Mesonephroma, benign|benign Mesonephroma|Wolffian duct adenoma	http://purl.obolibrary.org/obo/MONDO_0024889	A benign epithelial neoplasm of the female reproductive system arising from mesonephric remnants.	DOID:2616|NCIT:C4294|UMLS:C0334530
MONDO:0024888	mesonephric neoplasm	biolink:Disease	mondo	ICDO:9110/1|NCIT:C4295		neoplasm of mesonephric duct|mesonephric duct tumor|mesonephric tumor|Wolffian duct neoplasm|tumor of mesonephric duct|Mesonephroma|mesonephroma|mesonephric duct neoplasm|Wolffian duct tumor|mesonephric neoplasm	http://purl.obolibrary.org/obo/MONDO_0024888	An epithelial neoplasm of the female reproductive system arising from mesonephric remnants.	NCIT:C4295
MONDO:0010239	lissencephaly type 1 due to doublecortin gene mutation	biolink:Disease	mondo	ICD10:Q04.3|OMIM:300067|Orphanet:2148|UMLS:C4275012|UMLS:C1848199|SCTID:715780008|GARD:0006914	gard_rare|ordo_disease	LISX|lissencephaly and agenesis of corpus callosum|lissencephaly, X-linked, 1|lissencephaly, X-linked, type 1|subcortical band heterotopia, X-linked|subcortical laminar heterotopia, X-linked,|subcortical laminar heterotopia, X-linked|X-linked lissencephaly type 1|XLIS|Dc syndrome|Double cortex syndrome|LISX1|lissencephaly X-linked|Xlis|lissencephaly, X-linked, 1; LISX1|X-linked lissencephaly	http://purl.obolibrary.org/obo/MONDO_0010239	Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients.	UMLS:C1848199|UMLS:C4275012|SNOMEDCT:715780008|http://identifiers.org/omim/300067|ORPHA:2148
MONDO:0009249	hereditary fructose intolerance	biolink:Disease	mondo	SCTID:20052008|OMIM:229600|MedDRA:10019878|ICD9:271.2|DOID:9869|NCIT:C84720|ICD10:E74.12|ICD10:E74.1|UMLS:C0016751|Orphanet:469|GARD:0006622	ordo_disease	fructose intolerance, hereditary|aldolase B deficiency|fructose intolerance|fructose-1,6-bisphosphate aldolase B deficiency|fructose-1-phosphate aldolase deficiency|Fructosaemia|hereditary fructose-1-phosphate aldolase deficiency|Aldob deficiency|hereditary fructosemia|fructosemia|hereditary fructose intolerance syndrome	http://purl.obolibrary.org/obo/MONDO_0009249	Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.	SNOMEDCT:20052008|http://identifiers.org/omim/229600|MEDDRA:10019878|ORPHA:469|MESH:D005633|NCIT:C84720|DOID:9869|UMLS:C0016751
MONDO:0010238	deafness, X-linked 4	biolink:Disease	mondo	DOID:0111735|MESH:C564723|UMLS:C1848204|OMIM:300066	clingen	DFNX4|deafness, X-linked 6, progressive|deafness, X-linked 4|deafness, nonsyndromic sensorineural progressive 6|deafness, X-linked 4; DFNX4|SMPX X-linked nonsyndromic deafness|X-linked nonsyndromic deafness caused by mutation in SMPX|deafness, X-linked type 4	http://purl.obolibrary.org/obo/MONDO_0010238	Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the SMPX gene.	DOID:0111735|MESH:C564723|UMLS:C1848204|http://identifiers.org/omim/300066
MONDO:0009248	fructose and galactose intolerance	biolink:Disease	mondo	OMIM:229500|UMLS:C1856686|MESH:C565558		fructose and galactose intolerance	http://purl.obolibrary.org/obo/MONDO_0009248		http://identifiers.org/omim/229500|UMLS:C1856686|MESH:C565558
MONDO:0009247	frontofacionasal dysplasia	biolink:Disease	mondo	MESH:C538063|OMIM:229400|UMLS:C2931720|ICD10:Q75.8|SCTID:716022002|Orphanet:1791|GARD:0002390	ordo_malformation_syndrome|gard_rare	Ffnd|fronto-facio-nasal dysostosis|fronto-facio-nasal dyplasia|Gollop syndrome|Frontofacionasal dysostosis|frontofacionasal dysplasia	http://purl.obolibrary.org/obo/MONDO_0009247	Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).	ORPHA:1791|UMLS:C2931720|MESH:C538063|SNOMEDCT:716022002|http://identifiers.org/omim/229400
MONDO:0009246	Friedreich ataxia and congenital glaucoma	biolink:Disease	mondo	MESH:C538061|UMLS:C1856688|OMIM:229310		Friedreich ataxia and congenital glaucoma	http://purl.obolibrary.org/obo/MONDO_0009246		UMLS:C1856688|MESH:C538061|http://identifiers.org/omim/229310
MONDO:0009245	Friedreich ataxia	biolink:Disease	mondo	DOID:12705|SCTID:10394003|COHD:441554|MedDRA:10017374|ICD10:G11.1|GARD:0006468|MESH:D005621|ICD9:334.0|NCIT:C84718|Orphanet:95|OMIM:229300|UMLS:C0016719	ordo_disease|gard_rare	Friedreich's tabes|Friedreich ataxia 1; FRDA|Friedreich ataxia type 1|spinocerebellar ataxia, Friedreich|hereditary spinal ataxia|Friedreich ataxia 1|Fa|hereditary spinal sclerosis|Friedreich ataxia 1|FA|Friedreich ataxia with retained reflexes|FRDA|Friedreich's ataxia|Frda1	http://purl.obolibrary.org/obo/MONDO_0009245	Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.	MEDDRA:10017374|DOID:12705|ORPHA:95|MESH:D005621|NCIT:C84718|UMLS:C0016719|SNOMEDCT:10394003|http://identifiers.org/omim/229300
MONDO:0009244	Freesia Flowers, inability to smell	biolink:Disease	mondo	OMIM:229250		Freesia Flowers, inability to smell	http://purl.obolibrary.org/obo/MONDO_0009244		http://identifiers.org/omim/229250
MONDO:0024881	secondary malignant neoplasm	biolink:Disease	mondo	ICD9:198.89|ICD9:199.1|SCTID:128462008|NCIT:C4968		secondary malignancy|secondary malignant neoplasm|secondary cancer	http://purl.obolibrary.org/obo/MONDO_0024881	A malignant neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment.	NCIT:C4968|SNOMEDCT:128462008
MONDO:0024880	metastatic malignant neoplasm	biolink:Disease	mondo	NCIT:C36263		metastatic malignant neoplasm|malignant metastatic neoplasm|metastatic neoplasm, malignant|metastatic cancer	http://purl.obolibrary.org/obo/MONDO_0024880	A malignant tumor that has spread from its original (primary) site of growth to another site close to or distant from the primary site.	NCIT:C36263
MONDO:0009243	Fraser-like syndrome	biolink:Disease	mondo	MESH:C565562|UMLS:CN200837|Orphanet:2051|OMIM:229230|UMLS:C1856708		Fused eyelids, airway anomalies, ovarian cysts, and digital anomalies|Fraser-like syndrome	http://purl.obolibrary.org/obo/MONDO_0009243		UMLS:CN200837|UMLS:C1856708|MESH:C565562|ORPHA:2051|http://identifiers.org/omim/229230
MONDO:0009242	brittle cornea syndrome	biolink:Disease	mondo	Orphanet:90354|OMIMPS:229200|ICD10:Q79.6|DOID:14775|SCTID:719096006|GARD:0001019	ordo_disease|prototype_pattern|gard_rare	brittle cornea syndrome type 1|Ehlers-Danlos syndrome type 6b|brittle cornea syndrome|type VIB Ehlers-Danlos syndrome|kyphoscoliosis type|brittle cornea syndrome 2|brittle cornea syndrome 1|EDS VIB (formerly)|Ehlers-Danlos syndrome type 6B (formerly)|BCS1	http://purl.obolibrary.org/obo/MONDO_0009242	Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.	DOID:14775|SNOMEDCT:719096006|ORPHA:90354
MONDO:0010242	fetal akinesia syndrome, X-linked	biolink:Disease	mondo	GARD:0002293|MESH:C537921|UMLS:C1848171|OMIM:300073	gard_rare	polyhydramnios, hypokinesia, brain malformations, telecanthus, and narrow palpebral fissures|fetal akinesia syndrome X-linked|fetal akinesia syndrome, X-linked|X-linked form of fetal akinesia syndrome	http://purl.obolibrary.org/obo/MONDO_0010242		http://identifiers.org/omim/300073|MESH:C537921|UMLS:C1848171
MONDO:0009241	fountain syndrome	biolink:Disease	mondo	SCTID:720957007|OMIM:229120|GARD:0000064|ICD10:Q87.8|MESH:C537270|UMLS:C0795944|Orphanet:3219	gard_rare|ordo_malformation_syndrome	deafness-skeletal dysplasia-coarse face with full lips syndrome|mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips|intellectual disability, deafness, skeletal abnormalities, coarse face with full lips|intellectual disability, sensorineural deafness, skeletal abnormalities, and coarse face with full lips|deafness-skeletal dysplasia-lip granuloma syndrome|deafness, skeletal dysplasia, lip granuloma|fountain syndrome	http://purl.obolibrary.org/obo/MONDO_0009241	Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features.	UMLS:C0795944|SNOMEDCT:720957007|ORPHA:3219|http://identifiers.org/omim/229120|MESH:C537270
MONDO:0010241	congenital stationary night blindness 2A	biolink:Disease	mondo	DOID:0110871|OMIM:300071|UMLS:C1848172		congenital stationary night blindness caused by mutation in CACNA1F|congenital stationary night blindness 2A X-linked|night blindness, congenital stationary, type 2|congenital stationary night blindness type 2A|CSNB2A|night blindness, congenital stationary, type 2A|night blindness, congenital stationary, type 2A; CSNB2A|CACNA1F congenital stationary night blindness|CSNB, incomplete, X-linked	http://purl.obolibrary.org/obo/MONDO_0010241	Any congenital stationary night blindness in which the cause of the disease is a mutation in the CACNA1F gene.	http://identifiers.org/omim/300071|DOID:0110871|UMLS:C1848172
MONDO:0010244	CGF1	biolink:Disease	mondo	OMIM:300082|UMLS:C1848140		social cognition|cognitive function 1, social; CGF1|CGF1|cognitive function 1, social	http://purl.obolibrary.org/obo/MONDO_0010244		UMLS:C1848140|http://identifiers.org/omim/300082
MONDO:0009240	formiminoglutamic aciduria	biolink:Disease	mondo	SCTID:59761008|MESH:C537425|DOID:0111679|OMIM:229100|Orphanet:51208|ICD9:270.8|ICD10:E70.8|GARD:0009279|UMLS:C0268609	ordo_disease	formiminotransferase deficiency|formiminotransferase deficiency syndrome|Formiminoglutamicaciduria (FIGLU-Uria)|formiminoglutamic aciduria|glutamate formiminotransferase deficiency|formiminotransferase cyclodeaminase deficiency|Figlu-Uria|Arakawa syndrome 1|FTCD deficiency|formiminoglutamic acidemia	http://purl.obolibrary.org/obo/MONDO_0009240	Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia.	DOID:0111679|SNOMEDCT:59761008|ORPHA:51208|http://identifiers.org/omim/229100|UMLS:C0268609|MESH:C537425
MONDO:0010243	X-linked immunoneurologic disorder	biolink:Disease	mondo	SCTID:719827008|GARD:0000274|Orphanet:2571|OMIM:300076|UMLS:C1848144|ICD10:D82.8|MESH:C536743	ordo_disease	Woods-Black-Norbury syndrome|X-linked immunoneurological disorder|Woods Black Norbury syndrome|immunoneurologic disorder, X-linked|neonatal death immune deficiency	http://purl.obolibrary.org/obo/MONDO_0010243	X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males.	UMLS:C1848144|SNOMEDCT:719827008|http://identifiers.org/omim/300076|ORPHA:2571|MESH:C536743
MONDO:0010246	developmental and epileptic encephalopathy, 9	biolink:Disease	mondo	UMLS:C1848137|MESH:C564715|DOID:0060848|GARD:0010806|Orphanet:101039|OMIM:300088	ordo_disease	epilepsy and mental retardation limited to females|PCDH19 early infantile epileptic encephalopathy|early infantile epileptic encephalopathy caused by mutation in PCDH19|familial epilepsy and mental retardation limited to females|PCDH19-related FLE|female restricted epilepsy with intellectual disability|epilepsy, female-restricted, with intellectual disability|early infantile female-limited epilecptic encephalopathy|epilepsy, female-restricted, with mental retardation|EFMR|Juberg-Hellman syndrome|female restricted epilepsy with intellectual disability|Juberg Hellman syndrome|EIEE9|early infantile epileptic encephalopathy 9|epileptic encephalopathy, early infantile, 9; EIEE9|DEE9|epileptic encephalopathy, early infantile, type 9|early infantile epileptic encephalopathy type 9|female restricted epilepsy with mental retardation|epilepsy and intellectual disability limited to females|PCDH19-related infantile epileptic encephalopathy|familial epilepsy and intellectual disability limited to females|female restricted epilepsy with intellectual deficit|epilepsy, female restricted, with mental retardation|epileptic encephalopathy, early infantile, 9|PCDH19-related female-limited epilepsy|epilepsy, female restricted, with intellectual disability	http://purl.obolibrary.org/obo/MONDO_0010246	Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.	MESH:C564715|UMLS:C1848137|ORPHA:101039|DOID:0060848|http://identifiers.org/omim/300088
MONDO:0010245	X-linked cone-rod dystrophy 2	biolink:Disease	mondo	DOID:0111006|GARD:0001462|MESH:C564717|OMIM:300085	gard_rare	cone-rod dystrophy, X-linked, 2|CORDX2|cone-rod dystrophy X-linked 2|X-linked cone dystrophy 2|cone dystrophy 2, X-linked|COD2|X-linked cone-rod dystrophy type 2|cone dystrophy X-linked 2|cone-rod dystrophy, X-linked, 2; CORDX2	http://purl.obolibrary.org/obo/MONDO_0010245		http://identifiers.org/omim/300085|DOID:0111006|MESH:C564717
MONDO:0010248	X-linked spondyloepimetaphyseal dysplasia	biolink:Disease	mondo	OMIM:300106|Orphanet:93349|MESH:C564714|ICD10:Q77.7|UMLS:C1848097|GARD:0004979	gard_rare|ordo_disease	SEMDX|spondylo-epimetaphyseal dysplasia|SEMD, X-linked|SEMD X-linked|spondyloepimetaphyseal dysplasia, X-linked; SEMDX|spondyloepimetaphyseal dysplasia X-linked|spondyloepimetaphyseal dysplasia, X-linked	http://purl.obolibrary.org/obo/MONDO_0010248	X-linked form of spondyloepimetaphyseal dysplasia.	MESH:C564714|UMLS:C1848097|ORPHA:93349|http://identifiers.org/omim/300106
MONDO:0010247	X-linked cerebral adrenoleukodystrophy	biolink:Disease	mondo	Orphanet:139396|GARD:0009412|OMIM:300100|UMLS:CN199389|ICD10:E71.3|UMLS:CN036464	gard_rare|ordo_clinical_subtype	adrenoleukodystrophy X-linked cerebral form|childhood-onset cerebral X-linked adrenoleukodystrophy|adrenoleukodystrophy; ALD|adrenoleukodystrophy|adrenomyeloneuropathy|ALD childhood cerebral form|Addison disease and cerebral sclerosis|melanodermic leukodystrophy|adrenoleukodystrophy childhood cerebral form|childhood cerebral ALD|ALD|Siemerling-Creutzfeldt disease|bronze Schilder disease	http://purl.obolibrary.org/obo/MONDO_0010247	X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency.	UMLS:CN036464|ORPHA:139396|http://identifiers.org/omim/300100|UMLS:CN199389
MONDO:0034217	resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta	biolink:Disease	mondo	Orphanet:566243|ICD10:E07.8	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0034217		ORPHA:566243
MONDO:0024879	metastatic carcinoma	biolink:Disease	mondo	NCIT:C3482|UMLS:C1384494|ICDO:8010/6		metastatic carcinoma	http://purl.obolibrary.org/obo/MONDO_0024879	A carcinoma which has spread from the original site of growth to another anatomic site.	UMLS:C1384494|NCIT:C3482
MONDO:0034216	resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha	biolink:Disease	mondo	Orphanet:566231	ordo_disease	resistance to thyroid hormone alpha	http://purl.obolibrary.org/obo/MONDO_0034216		ORPHA:566231
MONDO:0034212	methotrexate toxicity	biolink:Disease	mondo	Orphanet:565782	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0034212		ORPHA:565782
MONDO:0036870	lymphatic vessel neoplasm	biolink:Disease	mondo	NCIT:C3723|UMLS:C0206619		tumor of lymphatic vessel|neoplasm of the lymphatic vessel|neoplasm of lymph vessel|lymph vessel tumor|neoplasm of the lymph vessel|neoplasm of lymphatic vessel|lymph vessel neoplasm|lymphatic vessel tumor|tumor of the lymphatic vessel|lymphatic vessel neoplasm|tumor of lymph vessel|tumor of the lymph vessel	http://purl.obolibrary.org/obo/MONDO_0036870	A benign or malignant neoplasm arising from the lymphatic vessels.	NCIT:C3723|UMLS:C0206619
MONDO:0010240	obsolete androgen insensitivity syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0010240		
HGNC:21014	ANTXR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21014		
MONDO:0024873	clitoral carcinoma	biolink:Disease	mondo	UMLS:C1333070|NCIT:C9362		carcinoma of clitoris|carcinoma of the clitoris|clitoral carcinoma|clitoris carcinoma|clitoral cancer	http://purl.obolibrary.org/obo/MONDO_0024873	A carcinoma that arises from the clitoris.	UMLS:C1333070|NCIT:C9362
MONDO:0024876	tendon sheath disorder	biolink:Disease	mondo	UMLS:C0729734|ICD9:727.9|SCTID:312381009		disease or disorder of tendon sheath|tendon sheath disease or disorder|tendon sheath disease|disease of tendon sheath|disorder of tendon sheath|tendon sheath disorder|disorder of tendon sheath	http://purl.obolibrary.org/obo/MONDO_0024876	A disease that involves the tendon sheath.	SNOMEDCT:312381009|UMLS:C0729734
GO:0099023	vesicle tethering complex	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0099023	Any protein complex that plays a role in vesicle tethering.	
GO:0099024	plasma membrane invagination	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0099024	An infolding of the plasma membrane.	
MONDO:0024878	secondary carcinoma	biolink:Disease	mondo	UMLS:C0085668|NCIT:C36310		secondary carcinoma	http://purl.obolibrary.org/obo/MONDO_0024878	A carcinoma that arises from a pre-existing lower grade epithelial lesion, or as a result of a primary carcinoma that has spread to secondary sites, or due to a complication of a cancer treatment.	NCIT:C36310|UMLS:C0085668
MONDO:0024877	clitoris neoplasm	biolink:Disease	mondo	UMLS:C1263793|SCTID:126925009|ICD9:239.5		tumor of clitoris|clitoral neoplasm|neoplasm of clitoris|clitoris tumor	http://purl.obolibrary.org/obo/MONDO_0024877	A neoplasm involving a clitoris.	UMLS:C1263793|SNOMEDCT:126925009
MONDO:0010228	DFNX3	biolink:Disease	mondo	DOID:0111736|OMIM:300030|MESH:C564727|GARD:0001707	gard_rare	DFNX3|deafness, X-linked 3; DFNX3|deafness X-linked, DFN3|deafness, X-linked 3|deafness, X-linked 4, congenital sensorineural	http://purl.obolibrary.org/obo/MONDO_0010228		DOID:0111736|MESH:C564727|http://identifiers.org/omim/300030
MONDO:0010227	retinitis pigmentosa 3	biolink:Disease	mondo	MESH:C564520|DOID:0110414|GARD:0010381|OMIM:300029|UMLS:C1845667|ICD10:H35.5		retinitis pigmentosa 15|cone-rod Degeneration, X-linked|retinitis pigmentosa type 3|retinitis pigmentosa caused by mutation in RPGR|retinitis pigmentosa 3|RPGR retinitis pigmentosa|retinitis pigmentosa 3; RP3|Choroidoretinal Degeneration with retinal reflex in heterozygous Women|RP3	http://purl.obolibrary.org/obo/MONDO_0010227	Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPGR gene.	MESH:C564520|DOID:0110414|http://identifiers.org/omim/300029|UMLS:C1845667
MONDO:0012889	SS3	biolink:Disease	mondo	OMIM:612388	predisposition	sarcoidosis, susceptibility to, 3|SS3|sarcoidosis, susceptibility to, 3; SS3	http://purl.obolibrary.org/obo/MONDO_0012889		http://identifiers.org/omim/612388
MONDO:0009259	gamma-glutamylcysteine synthetase deficiency	biolink:Disease	mondo	Orphanet:33574|ICD10:D55.1|SCTID:36799008|OMIM:230450|ICD9:270.8|DOID:0111681|MESH:C565557	ordo_disease	gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to|rare inborn error of glutamate-cysteine ligase activity|glutamate-cysteine ligase deficiency|inborn glutamate-cysteine ligase activity disorder|inborn error of glutamate-cysteine ligase activity|rare inborn error of glutamate-cysteine ligase activity	http://purl.obolibrary.org/obo/MONDO_0009259	Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.	DOID:0111681|MESH:C565557|http://identifiers.org/omim/230450|SNOMEDCT:36799008|ORPHA:33574
MONDO:0009258	classic galactosemia	biolink:Disease	mondo	Orphanet:79239|SCTID:10899004|DOID:0111459|ICD10:E74.2|OMIM:230400	ordo_disease	galactosemia, Duarte variant|galactosemia, classic|galactose-1-phosphate uridylyltransferase deficiency|Galt deficiency|galactosemia type 1|GALT deficiency|galactosemia|galactose-1-phosphate uridyltransferase deficiency|classical galactosemia, homozygous duarte-type	http://purl.obolibrary.org/obo/MONDO_0009258	Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.	SNOMEDCT:10899004|DOID:0111459|ORPHA:79239|http://identifiers.org/omim/230400|UMLS:C0268151
MONDO:0010229	alopecia, congenital	biolink:Disease	mondo	SCTID:2965006|NCIT:C35790|OMIM:300042|MESH:C535981		congenital alopecia|alopecia, congenital; ALPC|alopecia, congenital|ALPC	http://purl.obolibrary.org/obo/MONDO_0010229	A congenital condition characterized by the absence of hair on the scalp or entire body. The lack of hair is rarely absolute and is usually accompanied by incompletely grown, lanugo-like hair. It affects males twice as much as females and a familial tendency is common.	NCIT:C35790|MESH:C535981|http://identifiers.org/omim/300042|SNOMEDCT:2965006
MONDO:0009257	galactose epimerase deficiency	biolink:Disease	mondo	SCTID:8849004|DOID:0111458|ICD10:E74.2|Orphanet:79238|OMIM:230350|GARD:0005392	gard_rare|ordo_disease	galactosemia 3|galactose epimerase deficiency|Gale deficiency|GALE-D|galactosemia type 3|uridine diphosphate galactose-4-epimerase deficiency|GALE deficiency|UDP-galactose-4-epimerase deficiency|epimerase deficiency galactosemia	http://purl.obolibrary.org/obo/MONDO_0009257	Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism.	DOID:0111458|http://identifiers.org/omim/230350|ORPHA:79238|SNOMEDCT:8849004
MONDO:0009256	galactorrhea (disease)	biolink:Disease	mondo	MESH:D005687|HP:0100829|OMIM:230300|SCTID:78622004|ICD9:611.6|NCIT:C113343		galactorrhea	http://purl.obolibrary.org/obo/MONDO_0009256	Excessive or inappropriate lactation in females or males, and not necessarily related to pregnancy. Galactorrhea can occur either unilaterally or bilaterally, and be profuse or sparse. Its most common cause is hyperprolactinemia.	http://identifiers.org/omim/230300|SNOMEDCT:78622004|NCIT:C113343|MESH:D005687
MONDO:0009255	galactokinase deficiency	biolink:Disease	mondo	OMIM:230200|Orphanet:79237|GARD:0002422|ICD10:E74.2|ICD10:E74.29|SCTID:124302001|DOID:14695|NCIT:C114767|UMLS:C0268155	ordo_disease|gard_rare	galactokinase deficiency galactosemia|galactokinase deficiency|galactosemia type 2|galactosemia 2|hereditary galactokinase deficiency|galactosemia II|Galk deficiency|GALK-D|GALK deficiency	http://purl.obolibrary.org/obo/MONDO_0009255	Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.	UMLS:C0751158|DOID:14695|http://identifiers.org/omim/230200|ORPHA:79237|MESH:C535999|NCIT:C114767|UMLS:C0268155|SNOMEDCT:124302001
MONDO:0009254	fucosidosis	biolink:Disease	mondo	SCTID:64716005|DOID:14500|ICD10:E77.1|GARD:0006473|ICD9:271.8|Orphanet:349|UMLS:C0016788|NCIT:C61274|MESH:D005645|OMIM:230000	gard_rare|ordo_disease	lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues|fucosidosis|Alpha-L-fucosidase deficiency|alpha fucosidase deficiency|A-fucosidase deficiency	http://purl.obolibrary.org/obo/MONDO_0009254	Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.	http://identifiers.org/omim/230000|DOID:14500|NCIT:C61274|SNOMEDCT:64716005|MESH:D005645|UMLS:C0016788|ORPHA:349
MONDO:0012894	OS6	biolink:Disease	mondo	SCTID:239873007|UMLS:C0409959|ICD9:715.96|OMIM:612401		osteoarthritis susceptibility 6|osteoarthritis of knee|osteoarthritis susceptibility 6; OS6|OS6	http://purl.obolibrary.org/obo/MONDO_0012894		UMLS:C0409959|http://identifiers.org/omim/612401|SNOMEDCT:239873007
MONDO:0009253	Fryns syndrome	biolink:Disease	mondo	GARD:0003699|Orphanet:2059|ICD10:Q87.8|SCTID:702432006|NCIT:C98932|UMLS:C0220730|ICD9:759.89|MESH:C538070|OMIM:229850	ordo_malformation_syndrome|gard_rare	Moerman Van den Berghe Fryns syndrome|diaphragmatic hernia, abnormal face, and distal limb anomalies|Fryns syndrome|diaphragmatic hernia-abnormal face-distal limb anomalies syndrome|FRNS|Fryns syndrome; FRNS	http://purl.obolibrary.org/obo/MONDO_0009253	Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.	SNOMEDCT:702432006|NCIT:C98932|UMLS:C0220730|ORPHA:2059|MESH:C538070|http://identifiers.org/omim/229850
MONDO:0010231	MRX20	biolink:Disease	mondo	UMLS:C0796226|OMIM:300047|MESH:C563142		intellectual disability, X-linked 20; MRX20|intellectual disability, X-linked 20|MRX20|mental retardation, X-linked 20|mental retardation, X-linked 20; MRX20	http://purl.obolibrary.org/obo/MONDO_0010231		http://identifiers.org/omim/300047|UMLS:C0796226|MESH:C563142
MONDO:0010230	MRX23	biolink:Disease	mondo	UMLS:C0796229|OMIM:300046|MESH:C563144		intellectual disability, X-linked 23|intellectual disability, X-linked 23; MRX23|MRX23|mental retardation, X-linked 23|mental retardation, X-linked 23; MRX23	http://purl.obolibrary.org/obo/MONDO_0010230		http://identifiers.org/omim/300046|UMLS:C0796229|MESH:C563144
MONDO:0009252	essential fructosuria	biolink:Disease	mondo	MESH:C538068|ICD10:E74.1|ICD10:E74.11|OMIM:229800|Orphanet:2056|DOID:0111680|MedDRA:10015487|UMLS:C0268160|SCTID:40278002	ordo_disease	ketohexokinase deficiency|fructosuria, essential|hepatic fructokinase deficiency|fructokinase deficiency	http://purl.obolibrary.org/obo/MONDO_0009252	Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated.	DOID:0111680|MEDDRA:10015487|UMLS:C0268160|MESH:C538068|ORPHA:2056|http://identifiers.org/omim/229800|SNOMEDCT:40278002
MONDO:0012895	torsion dystonia 17	biolink:Disease	mondo	UMLS:C2676281|OMIM:612406|ICD10:G24.1|MESH:C567319|DOID:0090042|Orphanet:370103	ordo_disease	dystonia 17, torsion, autosomal recessive|primary dystonia, DYT17 type|dystonia 17, torsion, autosomal recessive; DYT17|DYT17|torsion dystonia type 17	http://purl.obolibrary.org/obo/MONDO_0012895	A dystonia characterized by autosomal recessive inheritance of progressive dystonia, dysphonia, dysarthria and neck torticollis that has material basis in variation in the chromosome region 20p11.2-q13.12.	ORPHA:370103|MESH:C567319|UMLS:C2676281|http://identifiers.org/omim/612406|DOID:0090042
MONDO:0010233	heterotopia, periventricular, X-linked dominant	biolink:Disease	mondo	ICD9:742.4|SCTID:448227009|OMIM:300049|GARD:0007371		heterotopia, periventricular nodular, with Frontometaphyseal dysplasia|heterotopia periventricular X-linked dominant|heterotopia, periventricular, Ehlers-Danlos variant|heterotopia, periventricular, X-linked dominant|periventricular nodular heterotopia 4, formerly|X-linked periventricular heterotopia|periventricular nodular heterotopia 4|NHBP|nodular heterotopia bilateral periventricular|nodular heterotopia, bilateral periventricular|BPNH|bilateral periventricular nodular heterotopia|PVNH1|periventricular nodular heterotopia 1|heterotopia, familial nodular|periventricular nodular heterotopia 1; PVNH1|heterotopia familial nodular	http://purl.obolibrary.org/obo/MONDO_0010233		http://identifiers.org/omim/300049|SNOMEDCT:448227009
MONDO:0009251	fructose-1,6-bisphosphatase deficiency	biolink:Disease	mondo	GARD:0002400|ICD10:E74.1|SCTID:28183005|Orphanet:348|NCIT:C128119|OMIM:229700|ICD10:E74.19|UMLS:C0016756|DOID:5204	ordo_disease	FBP1D|fructose 1 phosphate aldolase deficiency|fructose 1,6 diphosphatase deficiency|fructose-1,6-bisphosphatase deficiency; FBP1D|fructose-1,6-diphosphatase deficiency|fructose-1,6-bisphosphatase deficiency|baker-Winegrad disease	http://purl.obolibrary.org/obo/MONDO_0009251	Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.	SNOMEDCT:28183005|UMLS:C0016756|DOID:5204|http://identifiers.org/omim/229700|ORPHA:348|NCIT:C128119
MONDO:0012892	connective tissue disorder due to lysyl hydroxylase-3 deficiency	biolink:Disease	mondo	Orphanet:300284|SCTID:763318007|OMIM:612394|UMLS:C2676285|MESH:C567320	ordo_disease	connective tissue disorder due to LH3 deficiency|bone fragility with contractures, arterial rupture, and deafness|lysyl Hydroxylase 3 deficiency|bone fragility-contractures-arterial rupture-deafness syndrome|LH3 deficiency	http://purl.obolibrary.org/obo/MONDO_0012892	Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.	UMLS:C2676285|MESH:C567320|http://identifiers.org/omim/612394|SNOMEDCT:763318007|ORPHA:300284
MONDO:0012893	osteoarthritis susceptibility 5	biolink:Disease	mondo	SCTID:239872002|UMLS:C0029410|OMIM:612400	predisposition	GDF5 osteoarthritis|OS5|osteoarthritis of hip|osteoarthritis susceptibility 5|osteoarthritis susceptibility 5; OS5|osteoarthritis susceptibility type 5|osteoarthritis caused by mutation in GDF5	http://purl.obolibrary.org/obo/MONDO_0012893	Any osteoarthritis in which the cause of the disease is a mutation in the GDF5 gene.	UMLS:C0029410|http://identifiers.org/omim/612400|SNOMEDCT:239872002
MONDO:0010232	intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked	biolink:Disease	mondo	OMIM:300048|GARD:0003017|MESH:C535532	gard_rare	CIIP X-linked|CIIP|congenital short bowel syndrome, X-linked|CIIPX|Ipox|intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked|intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement|Ciip, X-linked|intestinal pseudoobstruction neuronal chronic idiopathic X-linked|congenital idiopathic intestinal pseudoobstruction	http://purl.obolibrary.org/obo/MONDO_0010232	Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations (mutations) in the FLNA gene, other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations (mutations) in the FLNA gene which is located in the X chromosome. There is no specific treatment but several medications and procedures may be used to treat the symptoms.	http://identifiers.org/omim/300048|MESH:C535532
MONDO:0009250	fructose utilization	biolink:Disease	mondo	OMIM:229650		fructose utilization	http://purl.obolibrary.org/obo/MONDO_0009250		http://identifiers.org/omim/229650
MONDO:0010235	X-linked intellectual disability-psychosis-macroorchidism syndrome	biolink:Disease	mondo	Orphanet:3077|SCTID:702356009|ICD9:758.89|DOID:0060827|ICD10:F71.1|GARD:0003506|OMIM:300055	gard_rare|ordo_malformation_syndrome	MRXS13|intellectual disability, X-linked 79|PPM-X syndrome|X-linked intellectual disability 79|mental retardation, X-linked, syndromic 13; MRXS13|mental retardation, X-linked, syndromic type 13|intellectual deficit, X-linked - psychosis - macroorchidism|mental retardation with psychosis, pyramidal signs, and macroorchidism|Lindsay-Burn syndrome|intellectual disability, X-linked, syndromic 13|X-linked intellectual disability with spasticity|mental retardation, X-linked, syndromic 13|intellectual disability, X-linked, syndromic type 13|intellectual disability, X-linked, syndromic 13; MRXS13|mental retardation, X-linked 16|mental retardation, X-linked, with spasticity|X-linked mental retardation with spasticity|intellectual disability psychosis macroorchidism|PPM-X|mental retardation psychosis macroorchidism|mental retardation, X-linked 79|X-linked mental retardation 79|intellectual disability, X-linked 16|intellectual disability, X-linked, with spasticity|intellectual disability with psychosis, pyramidal signs, and macroorchidism	http://purl.obolibrary.org/obo/MONDO_0010235		DOID:0060827|http://identifiers.org/omim/300055|ORPHA:3077|SNOMEDCT:702356009
MONDO:0012898	narcolepsy 4, susceptibility to	biolink:Disease	mondo	OMIM:612417|UMLS:C2676275	predisposition	narcolepsy 4, susceptibility to|NRCLP4|narcolepsy 4, susceptibility to; NRCLP4	http://purl.obolibrary.org/obo/MONDO_0012898		UMLS:C2676275|http://identifiers.org/omim/612417
MONDO:0010234	obsolete body length, mouse, human homolog	biolink:Disease	mondo			body length, mouse, HUMAN homolog	http://purl.obolibrary.org/obo/MONDO_0010234		
MONDO:0012899	AGA3	biolink:Disease	mondo	MESH:C567317|UMLS:C2676272|OMIM:612421		alopecia, androgenetic, 3; AGA3|alopecia, androgenetic, 3|AGA3	http://purl.obolibrary.org/obo/MONDO_0012899		MESH:C567317|UMLS:C2676272|http://identifiers.org/omim/612421
MONDO:0010237	X-linked intellectual disability-plagiocephaly syndrome	biolink:Disease	mondo	MESH:C537512|SCTID:719812008|GARD:0004377|UMLS:C2931516|GARD:0002765|ICD10:Q87.0|OMIM:300064|Orphanet:2898	ordo_malformation_syndrome|gard_rare	plagiocephaly and X-linked mental retardation|mental retardation, X-linked, with craniofacial dysmorphism|intellectual disability, X-linked, with craniofacial dysmorphism|intellectual disability, X-linked Hyde-Forster type|mental retardation, X-linked, Hyde-Forster type|Hyde Forster-McCarthy-Berry syndrome|intellectual disability, X-linked, Hyde-Forster type|mental retardation, X-linked Hyde-Forster type|intellectual disability, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features|Hyde Forster McCarthy Berry syndrome|plagiocephaly and X-linked intellectual disability|mental retardation, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features	http://purl.obolibrary.org/obo/MONDO_0010237	X-linked intellectual disability-plagiocephaly syndrome is characterised by severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism.	UMLS:C2931516|http://identifiers.org/omim/300064|SNOMEDCT:719812008|MESH:C537512|ORPHA:2898
MONDO:0012896	PSORS10	biolink:Disease	mondo	DOID:0111289|OMIM:612410		PSORS10|psoriasis 10, susceptibility to; PSORS10|psoriasis 10, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0012896		http://identifiers.org/omim/612410|DOID:0111289
MONDO:0012897	congenital factor XI deficiency	biolink:Disease	mondo	NCIT:C84705|UMLS:C0015523|SCTID:49762007|Orphanet:329|COHD:437256|DOID:2229|ICD9:286.2|MESH:D005173|GARD:0009670|ICD10:D68.1|OMIM:612416	ordo_disease|gard_rare	factor 11 deficiency|PTA deficiency|factor XI deficiency|hereditary Factor XI deficiency|F11 deficiency|congenital factor XI deficiency|hemophilia C|Rosenthal factor deficiency|Rosenthal syndrome|plasma thromboplastin antecedent deficiency|hereditary factor XI deficiency disease|Rosenthal's disease|hereditary factor XI deficiency	http://purl.obolibrary.org/obo/MONDO_0012897	Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery.	MESH:D005173|NCIT:C84705|UMLS:C0015523|http://identifiers.org/omim/612416|ORPHA:329|SNOMEDCT:49762007|DOID:2229
MONDO:0010236	MRX14	biolink:Disease	mondo	OMIM:300062|GARD:0008557|MESH:C537454		MRX14|intellectual disability, X-linked 14|mental retardation, X-linked 14|intellectual disability, X-linked 14; MRX14|mental retardation, X-linked 14; MRX14|intellectual disability, X-linked nonspecific, type 14|mental retardation, X-linked nonspecific, type 14	http://purl.obolibrary.org/obo/MONDO_0010236		http://identifiers.org/omim/300062|MESH:C537454
MONDO:0024868	metastatic carcinoma in the adrenal medulla	biolink:Disease	mondo	NCIT:C9276|UMLS:C1334717		metastatic carcinoma in the adrenal medulla|metastatic carcinoma to the adrenal medulla	http://purl.obolibrary.org/obo/MONDO_0024868	A carcinoma that has spread to the adrenal medulla from an adjacent or distant anatomic site.	UMLS:C1334717|NCIT:C9276
MONDO:0022208	crystal arthropathy	biolink:Disease	mondo	SCTID:18834007|ICD9:712.88|ICD9:712.98|MEDGEN:508879|ICD9:712.80|GARD:0012802|ICD9:712.90|ICD9:712|UMLS:C0152087		Crystal Arthritis|Crystal Arthropathy|Crystal Arthritides|Crystal Arthropathies|Crystalline arthritis|Arthropathies, Crystalline|Arthritides, Crystalline|Arthritis, Crystalline|Arthropathy, Crystalline|crystal-related arthropathy and periarthropathy|Crystal arthropathy|Arthropathies, Crystal|Crystal-induced arthritis AND/OR synovitis|Arthritides, Crystal|Arthropathy, Crystal|Arthritis, Crystal|crystal arthropathy|crystalline arthritis|Crystal-related arthropathy and periarthropathy|Crystalline Arthropathy|Crystalline Arthritis|Crystalline Arthritides|Crystalline Arthropathies|crystal-induced arthritis and/or synovitis	http://purl.obolibrary.org/obo/MONDO_0022208		SNOMEDCT:18834007|UMLS:C0152087
MONDO:0012890	pontocerebellar hypoplasia type 2B	biolink:Disease	mondo	MESH:C567325|OMIM:612389|DOID:0060268|UMLS:C2676466		pontocerebellar hypoplasia, type 2B; PCH2B|TSEN2 non-syndromic pontocerebellar hypoplasia|non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN2|pontocerebellar hypoplasia, type 2B|PCH2B	http://purl.obolibrary.org/obo/MONDO_0012890	Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN2 gene.	MESH:C567325|http://identifiers.org/omim/612389|UMLS:C2676466|DOID:0060268
MONDO:0012891	pontocerebellar hypoplasia type 2C	biolink:Disease	mondo	UMLS:C2676465|MESH:C567324|DOID:0060269|OMIM:612390		TSEN34 non-syndromic pontocerebellar hypoplasia|pontocerebellar hypoplasia, type 2C; PCH2C|PCH2C|pontocerebellar hypoplasia, type 2C|non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN34	http://purl.obolibrary.org/obo/MONDO_0012891	Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN34 gene.	MESH:C567324|http://identifiers.org/omim/612390|UMLS:C2676465|DOID:0060269
MONDO:0000894	mucinous bronchioloalveolar adenocarcinoma	biolink:Disease	mondo	DOID:0080185			http://purl.obolibrary.org/obo/MONDO_0000894	A bronchiolo-alveolar adenocarcinoma that is characterized by a tumour cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion.	DOID:0080185
MONDO:0024861	mixed teratoma and seminoma	biolink:Disease	mondo	NCIT:C9010		mixed teratoma and seminoma	http://purl.obolibrary.org/obo/MONDO_0024861		NCIT:C9010
MONDO:0000893	mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma	biolink:Disease	mondo	DOID:0080184|ICDO:8254/3|UMLS:C1266036|NCIT:C7270		mixed mucinous and non-mucinous bronchioloalveolar adenocarcinoma|indeterminate bronchioloalveolar carcinoma|mixed mucinous and non-mucinous bronchioloalveolar carcinoma|mixed mucinous and non-mucinous bronchioloalveolar lung carcinoma|mixed mucinous and non-mucinous bronchoalveolar lung carcinoma	http://purl.obolibrary.org/obo/MONDO_0000893	A rare morphologic variant of bronchiolo-alveolar lung carcinoma characterized by the presence of both mucin and non-mucin producing cells.	DOID:0080184|UMLS:C1266036|NCIT:C7270
MONDO:0000892	colon medullary carcinoma	biolink:Disease	mondo	NCIT:C60641|UMLS:C1880119|DOID:0080183|ONCOTREE:CMC		medullary colon carcinoma|colon medullary carcinoma|medullary carcinoma of the colon	http://purl.obolibrary.org/obo/MONDO_0000892	A rare, invasive colon adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis.	NCIT:C60641|UMLS:C1880119|DOID:0080183
MONDO:0022200	treatment for disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0022200		
MONDO:0024863	small size posterior uveal melanoma	biolink:Disease	mondo	NCIT:C9089|UMLS:C0278867		small size posterior uveal melanoma	http://purl.obolibrary.org/obo/MONDO_0024863		NCIT:C9089|UMLS:C0278867
MONDO:0000891	mixed fibrolamellar hepatocellular carcinoma	biolink:Disease	mondo	DOID:0080182			http://purl.obolibrary.org/obo/MONDO_0000891	A fibrolamellar carcinoma that is characterized by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components.	DOID:0080182
MONDO:0022201	has treatment by surgery	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0022201		
MONDO:0000898	malignant hemangioma	biolink:Disease	mondo	UMLS:C0474836|DOID:0080189		hemangioma, malignant	http://purl.obolibrary.org/obo/MONDO_0000898	A malignant form of hemangioma.	UMLS:C0474836|DOID:0080189
MONDO:0022202	disseminated	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0022202		
MONDO:0024864	medium/large size posterior uveal melanoma	biolink:Disease	mondo	UMLS:C0278868|NCIT:C9090		medium/large size posterior uveal melanoma	http://purl.obolibrary.org/obo/MONDO_0024864		NCIT:C9090|UMLS:C0278868
MONDO:0000897	obsolete chronic myelomonocytic leukemia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000897		
MONDO:0000896	obsolete chronic neutrophilic leukemia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000896		
MONDO:0009229	hyaline fibromatosis syndrome	biolink:Disease	mondo	GARD:0006807|OMIM:228600|UMLS:C2745948|DOID:0111669|Orphanet:498474	ordo_disease	juvenile hyaline fibromatosis (former subtype)|infantile systemic hyalinosis (former subtype)|hyaline fibromatosis syndrome; HFS|hyalinosis, systemic|inherited systemic hyalinosis|HFS|hyaline fibromatosis syndrome	http://purl.obolibrary.org/obo/MONDO_0009229		ORPHA:498474|UMLS:C2745948|http://identifiers.org/omim/228600|DOID:0111669
MONDO:0022205	pustular psoriasis	biolink:Disease	mondo	MEDGEN:508876|UMLS:C0152081|ICD9:696.1|SCTID:200973000|GARD:0012813	gard_rare	pustular psoriasis|Pustular psoriasis	http://purl.obolibrary.org/obo/MONDO_0022205		SNOMEDCT:200973000|UMLS:C0152081
MONDO:0000895	nonmucinous bronchioloalveolar adenocarcinoma	biolink:Disease	mondo	DOID:0080186			http://purl.obolibrary.org/obo/MONDO_0000895	A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation.	DOID:0080186
MONDO:0010217	de Sanctis-Cacchione syndrome	biolink:Disease	mondo	MESH:C535992|NCIT:C84666|UMLS:CN199649|ICD9:759.89|SCTID:414673004|UMLS:C0265201|OMIM:278800|Orphanet:1569|GARD:0008276	gard_rare	de Sanctis-Cacchione syndrome|xerodermic idiocy	http://purl.obolibrary.org/obo/MONDO_0010217	A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.	UMLS:C0265201|ORPHA:1569|UMLS:CN199649|MESH:C535992|NCIT:C84666|http://identifiers.org/omim/278800|SNOMEDCT:414673004
MONDO:0009228	gingival fibromatosis-facial dysmorphism syndrome	biolink:Disease	mondo	ICD10:Q87.0|MESH:C565567|Orphanet:2025|UMLS:C1856761|OMIM:228560|GARD:0010528	gard_rare|ordo_malformation_syndrome	gingival fibromatosis with craniofacial dysmorphism|fibromatosis, gingival, with distinctive facies|gingival fibromatosis with distinctive facies	http://purl.obolibrary.org/obo/MONDO_0009228	Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism.	ORPHA:2025|http://identifiers.org/omim/228560|UMLS:C1856761|MESH:C565567
MONDO:0009227	myofibromatosis, infantile, 1	biolink:Disease	mondo	ICD9:756.9|SCTID:254146000|OMIM:228550|MESH:C562978		myofibromatosis, infantile, type 1|myofibromatosis, infantile, 1|myofibromatosis caused by mutation in PDGFRB|myofibromatosis, juvenile|PDGFRB myofibromatosis|IMF1|fibromatosis, congenital generalized|myofibromatosis, infantile, 1; IMF1	http://purl.obolibrary.org/obo/MONDO_0009227	Any myofibromatosis in which the cause of the disease is a mutation in the PDGFRB gene.	MESH:C562978|http://identifiers.org/omim/228550|SNOMEDCT:254146000
MONDO:0010216	xeroderma pigmentosum group G	biolink:Disease	mondo	MESH:C562593|NCIT:C3969|Orphanet:276267|UMLS:C0268141|OMIM:278780|SCTID:36454001|ICD10:Q82.1|DOID:0110849|GARD:0005629		xeroderma pigmentosum type 7|XP7|xeroderma pigmentosum, complementation group G|xeroderma pigmentosum, type G/Cockayne syndrome|xeroderma pigmentosum complementation group G|xeroderma pigmentosum, complementation group type G|xeroderma pigmentosum group type G|XPG|ERCC5 xeroderma pigmentosum|XP group G|xeroderma pigmentosum, complementation group G; XPG|XP, Group G|xeroderma pigmentosum caused by mutation in ERCC5|xeroderma pigmentosum 7|XP-G|xeroderma pigmentosum VII	http://purl.obolibrary.org/obo/MONDO_0010216	Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC5 gene.	DOID:0110849|ORPHA:276267|http://identifiers.org/omim/278780|MESH:C562593|UMLS:C0268141|NCIT:C3969|SNOMEDCT:36454001
MONDO:0009226	fibrochondrogenesis 1	biolink:Disease	mondo	UMLS:C3278138|OMIM:228520		fibrochondrogenesis type 1|FBCG1|COL11A1 fibrochondrogenesis|fibrochondrogenesis 1|fibrochondrogenesis caused by mutation in COL11A1|fibrochondrogenesis 1; FBCG1	http://purl.obolibrary.org/obo/MONDO_0009226	Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A1 gene.	http://identifiers.org/omim/228520|UMLS:C3278138
MONDO:0012878	Cowden syndrome 2	biolink:Disease	mondo	UMLS:C3552552|OMIM:612359|MESH:C567337		SDHB Cowden disease|Cowden syndrome 2; CWS2|CWS2|Cowden syndrome type 2|Cowden syndrome 2|Cowden disease caused by mutation in SDHB	http://purl.obolibrary.org/obo/MONDO_0012878	Any Cowden disease in which the cause of the disease is a mutation in the SDHB gene.	UMLS:C3552552|MESH:C567337|http://identifiers.org/omim/612359
MONDO:0010219	xylosidase deficiency	biolink:Disease	mondo	MESH:C564730|UMLS:C1848407|OMIM:278900		xylosidase deficiency	http://purl.obolibrary.org/obo/MONDO_0010219		MESH:C564730|UMLS:C1848407|http://identifiers.org/omim/278900
MONDO:0010218	46,XX sex reversal 2	biolink:Disease	mondo	OMIM:278850|UMLS:C2749215|DOID:0111763		SRXX2|46,XX Sex reversal type 2|46,XX sex reversal 2|46,XX SEX reversal 2; SRXX2|chromosome 17Q24 Duplication syndrome	http://purl.obolibrary.org/obo/MONDO_0010218		UMLS:C2749215|DOID:0111763|http://identifiers.org/omim/278850
MONDO:0012879	schizophrenia 14	biolink:Disease	mondo	DOID:0070090|UMLS:C2677614|OMIM:612361		schizophrenia 14|SCZD14|Sczd14|schizophrenia susceptibility locus, chromosome 2Q32-related|schizophrenia type 14	http://purl.obolibrary.org/obo/MONDO_0012879	A schizophrenia that has material basis in a mutation on chromosome 2q32.1.	DOID:0070090|UMLS:C2677614|http://identifiers.org/omim/612361
MONDO:0009225	fever, familial lifelong persistent	biolink:Disease	mondo	MESH:C565569|OMIM:228400|UMLS:C1856788		fever, familial lifelong persistent	http://purl.obolibrary.org/obo/MONDO_0009225		http://identifiers.org/omim/228400|UMLS:C1856788|MESH:C565569
MONDO:0009224	fetal iodine syndrome	biolink:Disease	mondo	OMIM:228355|GARD:0002304|Orphanet:1910|UMLS:C4273860|ICD10:P72.2|SCTID:718228001	ordo_malformation_syndrome|gard_rare	fetal iodine deficiency disorder|fetal iodine deficiency disorder; FIDD|endemic cretinism|FIDD	http://purl.obolibrary.org/obo/MONDO_0009224	Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH).	http://identifiers.org/omim/228355|UMLS:C4273860|SNOMEDCT:718228001|ORPHA:1910
MONDO:0000890	Zika virus congenital syndrome	biolink:Disease	mondo	DOID:0080180		congenital Zika virus infection|ZIKV congenital infection|congenital Zika syndrome	http://purl.obolibrary.org/obo/MONDO_0000890	A congenital birth syndrome that arises from materal Zika infection.	DOID:0080180
MONDO:0009223	hypogonadotropic hypogonadism 23 with or without anosmia	biolink:Disease	mondo	Orphanet:325448|GARD:0010127|ICD10:Q56.1|SCTID:8829008|UMLS:C0271582|OMIM:228300|MESH:C537919|DOID:0090091|ICD9:253.4	ordo_clinical_subtype	HH23|Pasqualini syndrome|46,XY disorder of sex development due to LHB deficiency|hypogonadotropic hypogonadism 23 without anosmia; HH23|eunuchoidism with spermatogenesis, normal FSH and low or normal interstitial cell-stimulating hormone (ICSH)|46,XY DSD due to LHB deficiency|46,XY DSD due to luteinizing hormone subunit beta deficiency|LHB hypogonadotropic hypogonadism|fertile eunuch syndrome|46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency|hypogonadotropic hypogonadism caused by mutation in LHB|Leydig cell hypoplasia due to LHB deficiency|Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency|hypogonadotropic hypogonadism 23 without anosmia	http://purl.obolibrary.org/obo/MONDO_0009223	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene.	UMLS:C0271582|http://identifiers.org/omim/228300|MESH:C537919|DOID:0090091|SNOMEDCT:8829008|ORPHA:325448
GO:1905276	regulation of epithelial tube formation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1905276	Any process that modulates the frequency, rate or extent of epithelial tube formation.	
GO:1905277	negative regulation of epithelial tube formation	biolink:OntologyClass	mondo			inhibition of epithelial tube formation|downregulation of epithelial tube formation|down-regulation of epithelial tube formation|down regulation of epithelial tube formation	http://purl.obolibrary.org/obo/GO_1905277	Any process that stops, prevents or reduces the frequency, rate or extent of epithelial tube formation.	
MONDO:0009222	Gollop-Wolfgang complex	biolink:Disease	mondo	GARD:0002285|UMLS:C1856789|OMIM:228250|SCTID:716006003|ICD10:Q74.8|MESH:C537917|Orphanet:1986	ordo_malformation_syndrome	femur, unilateral bifid, with monodactylous ectrodactyly|Gollop-Wolfgang complex|femur bifid with monodactylous ectrodactyly|GWC|bifid femur-monodactylous ectrodactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0009222	Gollop-Wolfgang complex is a very rare malformation characterized by ectrodactyly of the hand and ipsilateral bifurcation of the femur.	http://identifiers.org/omim/228250|MESH:C537917|UMLS:C1856789|ORPHA:1986|SNOMEDCT:716006003
MONDO:0009221	femur-fibula-ulna complex	biolink:Disease	mondo	OMIM:228200|Orphanet:2019|UMLS:C1856790|MESH:C537918|MedDRA:10068448|ICD10:Q74.8|GARD:0002286	ordo_malformation_syndrome	femur fibula ulna syndrome|femur-fibula-ulna dysostosis|FFU complex|femur-fibula-ulna syndrome|Ffu syndrome|PFFD	http://purl.obolibrary.org/obo/MONDO_0009221	Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the femur, absence of the fibula and malformation of the ulnar side of the upper limb. Axial skeleton, internal organs and intellectual function are usually normal.	http://identifiers.org/omim/228200|UMLS:C2363814|MESH:C537918|UMLS:C1856790|MEDDRA:10068448|ORPHA:2019
GO:1905278	positive regulation of epithelial tube formation	biolink:OntologyClass	mondo			up-regulation of epithelial tube formation|up regulation of epithelial tube formation|activation of epithelial tube formation|upregulation of epithelial tube formation	http://purl.obolibrary.org/obo/GO_1905278	Any process that activates or increases the frequency, rate or extent of epithelial tube formation.	
MONDO:0010220	Young syndrome	biolink:Disease	mondo	MedDRA:10063689|MESH:C536718|GARD:0000341|ICD9:759.89|ICD10:N46|Orphanet:3471|OMIM:279000|SCTID:233666007|UMLS:C0340037	ordo_disease|gard_rare	Barry Perkins Young syndrome|young syndrome|sinusitis-infertility syndrome|azoospermia-sinopulmonary infections syndrome|Barry-Perkins-Young syndrome|azoospermia obstructive and chronic sinopulmonary infections|azoospermia, obstructive, and chronic sinopulmonary infections	http://purl.obolibrary.org/obo/MONDO_0010220	Young syndrome is characterised by the association of obstructive azoospermia with recurrent sinobronchial infections.	SNOMEDCT:233666007|http://identifiers.org/omim/279000|UMLS:C0340037|ORPHA:3471|MEDDRA:10063689|MESH:C536718
MONDO:0012883	acute promyelocytic leukemia	biolink:Disease	mondo	ICD10:C92.4|MESH:D015473|ICDO:9866/3|SCTID:110004001|MedDRA:10001019|ICD10:C92.40|EFO:0000224|GARD:0000538|Orphanet:520|UMLS:C0023487|OMIM:612376|DOID:0060318|NCIT:C3182	ordo_disease	acute promyelocytic leukemia|acute promyelocytic leukemia with PML-rara|acute myeloid leukemia M3|APML|APML - acute promyelocytic leukemia|AML M3|promyelocytic leukemia|AML with t(15;17)(q22;q12);(PML/RARalpha) and variants|acute myeloblastic leukemia type 3|leukemia, acute promyelocytic|APL|acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants|acute myeloblastic leukemia 3|acute promyelocytic leukemia with t(15;17)(q22;q12); PML/rara|acute promyelocytic leukemia; APL|AML with t(15;17)(q22;q12)|FAB M3|acute promyelocytic leukemia with t(15;17)(q22;q12); PML-rara	http://purl.obolibrary.org/obo/MONDO_0012883	Acute promyelocytic leukemia (APL) is an aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue.	UMLS:C0023487|DOID:0060318|MEDDRA:10001019|NCIT:C3182|MESH:D015473|http://identifiers.org/omim/612376|SNOMEDCT:110004001|ORPHA:520
MONDO:0009220	visceral steatosis, congenital	biolink:Disease	mondo	SCTID:270881008|COHD:4059290|GARD:0008514|OMIM:228100|ICD9:571.8		fatty liver disease, congenital|steatosis of liver|fatal neonatal hepatic steatosis|visceral steatosis|visceral steatosis, congenital|White liver disease|fatty metamorphosis of viscera	http://purl.obolibrary.org/obo/MONDO_0009220		http://identifiers.org/omim/228100|SNOMEDCT:270881008
MONDO:0012884	systemic lupus erythematosus, susceptibility to, 13	biolink:Disease	mondo	OMIM:612378	predisposition	SLEB13|systemic lupus erythematosus, susceptibility to, 13; SLEB13|systemic lupus erythematosus, susceptibility to, 13	http://purl.obolibrary.org/obo/MONDO_0012884		http://identifiers.org/omim/612378
MONDO:0010222	X-linked Opitz G/BBB syndrome	biolink:Disease	mondo	ICD10:Q87.8|OMIM:300000|Orphanet:306597	ordo_etiological_subtype	Opitz GBBB syndrome, type I; GBBB1|Opitz GBBB syndrome, X-linked|Opitz GBBB syndrome, type I|GBBB1|Opitz syndrome, X-linked|hypertelorism with esophageal Abnormality and hypospadias|Opitz syndrome|Opitz GBBB syndrome, type 1|hypertelorism-hypospadias syndrome|X-linked Opitz syndrome|Opitz G/BBB syndrome, X-linked|telecanthus-hypospadias syndrome|Opitz Bbbg syndrome, type 1|Opitz-G syndrome, type 1|X-linked Opitz BBB/G syndrome|XLOS	http://purl.obolibrary.org/obo/MONDO_0010222	X-linked form of Opitz G/BBB syndrome.	http://identifiers.org/omim/300000|ORPHA:306597
MONDO:0012881	major affective disorder 7	biolink:Disease	mondo	OMIM:612371|MESH:C567529		major affective disorder 7|bipolar affective disorder|MAFD7|major affective disorder type 7|major affective disorder 7; MAFD7	http://purl.obolibrary.org/obo/MONDO_0012881		http://identifiers.org/omim/612371|MESH:C567529
MONDO:0010221	CHIME syndrome	biolink:Disease	mondo	Orphanet:3474|OMIM:280000|MESH:C536729|SCTID:720639008|ICD10:Q87.8|GARD:0000310|UMLS:C1848392	ordo_malformation_syndrome	coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome; CHIME|CHIME|Zunich neuroectodermal syndrome|congenital disorder of glycosylation due to PIGL deficiency|CHIME syndrome|PIGL-CDG|neuroectodermal syndrome, Zunich type|glycosylphosphatidylinositol biosynthesis defect 5|coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome|coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome|neuroectodermal dysplasia, CHIME type|coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies syndrome; CHIME|coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies syndrome|Zunich-Kaye syndrome	http://purl.obolibrary.org/obo/MONDO_0010221	CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.	SNOMEDCT:720639008|UMLS:C1848392|http://identifiers.org/omim/280000|ORPHA:3474|MESH:C536729
MONDO:0012882	major affective disorder 9	biolink:Disease	mondo	OMIM:612372|MESH:C567531		major affective disorder 9|bipolar affective disorder|MAJOR affective disorder 9; MAFD9|MAFD9	http://purl.obolibrary.org/obo/MONDO_0012882		http://identifiers.org/omim/612372|MESH:C567531
MONDO:0010224	corpus callosum agenesis-abnormal genitalia syndrome	biolink:Disease	mondo	Orphanet:2508|GARD:0004528|MESH:C563110|OMIM:300004|ICD10:Q87.8|UMLS:C0796124|SCTID:763797003	ordo_malformation_syndrome	New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum|Proud syndrome|corpus callosum, agenesis of, with abnormal genitalia|ACC with abnormal genitalia|microcephaly-corpus callosum agenesis-abnormal genitalia syndrome|Proud Levine Carpenter syndrome|ACC-abnormal genitalia syndrome|Proud-Levine-Carpenter syndrome	http://purl.obolibrary.org/obo/MONDO_0010224	Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (large eyes, prominent supraorbital ridges, synophris) and optic atrophy have been observed.	SNOMEDCT:763797003|MESH:C563110|http://identifiers.org/omim/300004|UMLS:C0796124|ORPHA:2508
GO:0051092	positive regulation of NF-kappaB transcription factor activity	biolink:OntologyClass	mondo			activation of NF-kappaB transcription factor|activation of NF-kappaB|NF-kappaB activation	http://purl.obolibrary.org/obo/GO_0051092	Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB.	
MONDO:0012887	inflammatory bowel disease 23	biolink:Disease	mondo	UMLS:C2676484|DOID:0110884|OMIM:612381|MESH:C567326		inflammatory bowel disease 23|IBD23|inflammatory bowel disease type 23|inflammatory bowel disease 23; IBD23	http://purl.obolibrary.org/obo/MONDO_0012887	An inflammatory bowel disease that has material basis in variation in the chromosome region 1q32.1.	DOID:0110884|MESH:C567326|http://identifiers.org/omim/612381|UMLS:C2676484
MONDO:0012888	sarcoidosis, susceptibility to, 2	biolink:Disease	mondo	OMIM:612387	predisposition	sarcoidosis, susceptibility to, 2; SS2|BTNL2 sarcoidosis|SS2|sarcoidosis, susceptibility to, type 2|susceptibility to sarcoidosis 2|sarcoidosis, susceptibility to, 2|sarcoidosis caused by mutation in BTNL2	http://purl.obolibrary.org/obo/MONDO_0012888	Any sarcoidosis in which the cause of the disease is a mutation in the BTNL2 gene.	http://identifiers.org/omim/612387
MONDO:0010223	ichthyosis, X-linked, without steroid sulfatase deficiency	biolink:Disease	mondo	UMLS:C1848387|MESH:C564729|OMIM:300001		ichthyosis, X-linked, without steroid sulfatase deficiency	http://purl.obolibrary.org/obo/MONDO_0010223		MESH:C564729|UMLS:C1848387|http://identifiers.org/omim/300001
GO:0051093	negative regulation of developmental process	biolink:OntologyClass	mondo			downregulation of developmental process|inhibition of developmental process|down-regulation of developmental process|down regulation of developmental process	http://purl.obolibrary.org/obo/GO_0051093	Any process that stops, prevents or reduces the rate or extent of development, the biological process whose specific outcome is the progression of an organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult).	
MONDO:0010226	46,XY sex reversal 2	biolink:Disease	mondo	DOID:0111777|OMIM:300018|UMLS:C1848296|MESH:C535601		46,XY SEX reversal 2; SRXY2|46,XY sex reversal 2|SRXY2|dosage-sensitive Sex reversal|46,XY Sex reversal type 2|46,XY Sex reversal, Dax1-related	http://purl.obolibrary.org/obo/MONDO_0010226		DOID:0111777|MESH:C535601|UMLS:C1848296|http://identifiers.org/omim/300018
MONDO:0012885	SRD5A3-CDG	biolink:Disease	mondo	ICD10:E77.8|UMLS:C3150191|Orphanet:324737|GARD:0012397|OMIM:612379|SCTID:733601006|DOID:0080568|UMLS:C4317224	ordo_disease	coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities|CDGIq|congenital disorder of glycosylation type 1q|CDG Iq|congenital disorder of glycosylation, type Iq; CDG1Q|congenital disorder of glycosylation due to steroid 5alpha-reductase type 3 deficiency|CDG-Iq|CDG1Q|CDG syndrome type Iq|SRD5A3-CDG (CDG-Iq)|congenital disorder of glycosylation type Iq|congenital disorder of glycosylation, type Iq	http://purl.obolibrary.org/obo/MONDO_0012885	SRD5A3-CDG is a rare, non X-linked congenital disorder of gyclosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.	ORPHA:324737|http://identifiers.org/omim/612379|UMLS:C4317224|SNOMEDCT:733601006|DOID:0080568|UMLS:C3150191
GO:0051090	regulation of DNA-binding transcription factor activity	biolink:OntologyClass	mondo			regulation of DNA binding transcription factor activity|regulation of sequence-specific DNA binding transcription factor activity|regulation of androgen receptor activity|regulation of thyroid hormone receptor activity|regulation of transcription factor activity	http://purl.obolibrary.org/obo/GO_0051090	Any process that modulates the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription.	
MONDO:0010225	Dent disease type 1	biolink:Disease	mondo	SCTID:717789008|OMIM:300009|ICD10:N25.8|Orphanet:93622|UMLS:C4305530|UMLS:CN206679	ordo_clinical_subtype	Dent disease type 1|CLCN5 Dent disease|nephrolithiasis, hypercalciuric, X-linked|Dent disease caused by mutation in CLCN5|nephrolithiasis type 1|nephrolithiasis 2|urolithiasis, hypercalciuric, X-linked|DENT disease 1	http://purl.obolibrary.org/obo/MONDO_0010225	Dent disease type 1 is a type of Dent disease with predominantly renal manifestations.	UMLS:CN206679|UMLS:C1848336|http://identifiers.org/omim/300009|SNOMEDCT:717789008|ORPHA:93622|MESH:C538212|UMLS:C4305530
MONDO:0012886	inflammatory bowel disease 22	biolink:Disease	mondo	DOID:0110905|MESH:C567327|OMIM:612380|UMLS:C2676485		IBD22|inflammatory bowel disease type 22|inflammatory bowel disease 22|inflammatory bowel disease 22; IBD22	http://purl.obolibrary.org/obo/MONDO_0012886	An inflammatory bowel disease that has material basis in variation in the chromosome region 17q21.2.	DOID:0110905|MESH:C567327|http://identifiers.org/omim/612380|UMLS:C2676485
GO:0051091	positive regulation of DNA-binding transcription factor activity	biolink:OntologyClass	mondo			positive regulation of thyroid hormone receptor activity|up-regulation of transcription factor activity|positive regulation of transcription factor activity|up regulation of transcription factor activity|activation of transcription factor activity|stimulation of transcription factor activity|upregulation of transcription factor activity|positive regulation of DNA binding transcription factor activity|positive regulation of sequence-specific DNA binding transcription factor activity	http://purl.obolibrary.org/obo/GO_0051091	Any process that activates or increases the frequency, rate or extent of activity of a transcription factor, any factor involved in the initiation or regulation of transcription.	
MONDO:0024857	immature extragonadal teratoma	biolink:Disease	mondo	NCIT:C8884|UMLS:C0855163		primary malignant extragonadal teratoma|extragonadal primary malignant teratoma|malignant extragonadal teratoma|immature extragonadal teratoma	http://purl.obolibrary.org/obo/MONDO_0024857	An immature teratoma that develops as a primary tumor in an anatomic site other than the testis or ovary.	UMLS:C0855163|NCIT:C8884
MONDO:0000889	haemophilus meningitis	biolink:Disease	mondo	DOID:0080179|SCTID:5900006|COHD:437538|EFO:1000955|SCTID:192643004|MONDO:0006775|ICD9:320.0|MedDRA:10018953|ICD10:G00.0|MESH:D008583		Haemophilus influenzae bacterial meningitis|Haemophilus influenzae caused bacterial meningitis	http://purl.obolibrary.org/obo/MONDO_0000889	Infections of the nervous system caused by bacteria of the genus haemophilus, and marked by prominent inflammation of the meninges. haemophilus influenzae type B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults.	SNOMEDCT:192643004|MESH:D008583|SNOMEDCT:5900006|DOID:0080179
GO:0051094	positive regulation of developmental process	biolink:OntologyClass	mondo			up-regulation of developmental process|up regulation of developmental process|activation of developmental process|stimulation of developmental process|upregulation of developmental process	http://purl.obolibrary.org/obo/GO_0051094	Any process that activates or increases the rate or extent of development, the biological process whose specific outcome is the progression of an organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult).	
MONDO:0000888	gastrointestinal mucositis	biolink:Disease	mondo	COHD:437915|DOID:0080178|MESH:D052016|ICD9:538|SCTID:95518006|NCIT:C3853|UMLS:C0521585|ICD9:558.9		gastrointestinal system mucosa inflammation|mucositis|inflammation of gastrointestinal system mucosa|gastrointestinal system mucosaitis	http://purl.obolibrary.org/obo/MONDO_0000888	Inflammation of the mucous membranes lining the gastrointestinal tract.	SNOMEDCT:95518006|MESH:D052016|UMLS:C0521585|NCIT:C3853|DOID:0080178
HGNC:23639	TTC37	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23639		
MONDO:0012880	hypogonadotropic hypogonadism 5 with or without anosmia	biolink:Disease	mondo	DOID:0090084|MESH:C567220|UMLS:C3552553|ICD10:E23.0|OMIM:612370|GARD:0010773	gard_rare	hypogonadotropic hypogonadism 5 with or without anosmia|hypogonadotropic hypogonadism 5 with or without anosmia; HH5|hypogonadotropic hypogonadism caused by mutation in CHD7|KAL5|HH5|Kallmann syndrome 5|CHD7 hypogonadotropic hypogonadism	http://purl.obolibrary.org/obo/MONDO_0012880	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the CHD7 gene.	UMLS:C3552553|MESH:C567220|http://identifiers.org/omim/612370|DOID:0090084
GO:0090665	glycoprotein complex	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0090665	A protein complex containing at least one glycosylated protein, may be held together by both covalent and noncovalent bonds.	
GO:0051098	regulation of binding	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0051098	Any process that modulates the frequency, rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule.	
GO:0051099	positive regulation of binding	biolink:OntologyClass	mondo			up-regulation of binding|up regulation of binding|activation of binding|stimulation of binding|upregulation of binding	http://purl.obolibrary.org/obo/GO_0051099	Any process that activates or increases the rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule.	
GO:0099003	vesicle-mediated transport in synapse	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0099003	Any vesicle-mediated transport that occurs in a synapse.	
GO:0099004	calmodulin dependent kinase signaling pathway	biolink:OntologyClass	mondo			CAMK signaling pathway	http://purl.obolibrary.org/obo/GO_0099004	Any signal transduction pathway involving calmodulin dependent kinase activity.	
HGNC:23658	DELEC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23658		
HGNC:23657	GNE	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23657		
MONDO:0012869	intellectual disability, autosomal dominant 22	biolink:Disease	mondo	OMIM:612337|MESH:C567346|DOID:0070052|UMLS:C3808184		chromosome 1Q43-q44 deletion syndrome|autosomal dominant intellectual disability 22|intellectual disability, autosomal dominant 22; MRD22|mental retardation, autosomal dominant type 22|chromosome 1Qter deletion syndrome|autosomal dominant non-syndromic intellectual disability 22|mental retardation, autosomal dominant 22; MRD22|intellectual disability, autosomal dominant 22|ZBTB18 autosomal dominant non-syndromic intellectual disability|mental retardation, autosomal dominant 22|autosomal dominant non-syndromic intellectual disability caused by mutation in ZBTB18|intellectual disability, autosomal dominant type 22|MRD22|autosomal dominant mental retardation 22	http://purl.obolibrary.org/obo/MONDO_0012869	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZBTB18 gene.	MESH:C567346|http://identifiers.org/omim/612337|UMLS:C3808184|DOID:0070052
MONDO:0010206	hypotrichosis 8	biolink:Disease	mondo	OMIM:278150|DOID:0110705|MESH:C566950|UMLS:C3279470		hypotrichosis 8|LAH3|woolly hair, autosomal recessive 1, with or without hypotrichosis|hypotrichosis type 8|LPAR6 hypotrichosis|hypotrichosis, localized, autosomal recessive 3|hypotrichosis caused by mutation in LPAR6|HYPT8|HYPT8|hypotrichosis 8; HYPT8	http://purl.obolibrary.org/obo/MONDO_0010206	Any hypotrichosis in which the cause of the disease is a mutation in the LPAR6 gene.	UMLS:C3279470|MESH:C566950|DOID:0110705|http://identifiers.org/omim/278150
MONDO:0009239	hypogonadotropic hypogonadism 24 without anosmia	biolink:Disease	mondo	MESH:C537070|GARD:0010128|DOID:0090088|ICD10:E23.6|Orphanet:52901|SCTID:758664007|OMIM:229070|UMLS:C1856716	ordo_disease	follicle-stimulating hormone deficiency, isolated|hypogonadotropic hypogonadism caused by mutation in FSHB|isolated follicle stimulating hormone deficiency|hypogonadotropic hypogonadism 24 without anosmia; HH24|FSHB hypogonadotropic hypogonadism|isolated FSH deficiency|HH24|isolated follicle-stimulating hormone (FSH) deficiency|isolated follicle-stimulating hormone deficiency|hypogonadotropic hypogonadism 24 without anosmia	http://purl.obolibrary.org/obo/MONDO_0009239	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene.	http://identifiers.org/omim/229070|MESH:C537070|UMLS:C1856716|DOID:0090088|SNOMEDCT:758664007|ORPHA:52901
MONDO:0009238	hereditary folate malabsorption	biolink:Disease	mondo	GARD:0012983|SCTID:62578003|UMLS:C0342705|DOID:0111678|ICD10:D52.8|OMIM:229050|MESH:C562799|Orphanet:90045	ordo_disease|gard_rare	congenital defect of folate absorption|folic acid transport defect|congenital folate malabsorption|folate malabsorption, hereditary	http://purl.obolibrary.org/obo/MONDO_0009238	Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.	http://identifiers.org/omim/229050|ORPHA:90045|SNOMEDCT:62578003|DOID:0111678|UMLS:C0342705|MESH:C562799
MONDO:0010205	Wolman disease with hypolipoproteinemia and acanthocytosis	biolink:Disease	mondo	OMIM:278100|MESH:C564736|UMLS:C1848436		Wolman disease with hypolipoproteinemia and acanthocytosis	http://purl.obolibrary.org/obo/MONDO_0010205		MESH:C564736|http://identifiers.org/omim/278100|UMLS:C1848436
MONDO:0012867	hereditary spastic paraplegia 38	biolink:Disease	mondo	MESH:C567349|ICD10:G11.4|DOID:0110789|Orphanet:171617|UMLS:C2676732|OMIM:612335	ordo_disease	autosomal dominant spastic paraplegia 38|autosomal dominant spastic paraplegia type 38|hereditary spastic paraplegia type 38|spastic paraplegia 38, autosomal dominant; SPG38|SPG38|spastic paraplegia 38, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0012867	A hereditary spastic paraplegia that has material basis in variation in the chromosome region 4p16-p15.	UMLS:C2676732|DOID:0110789|ORPHA:171617|MESH:C567349|http://identifiers.org/omim/612335
MONDO:0009237	focal epithelial hyperplasia	biolink:Disease	mondo	DOID:5362|UMLS:C0206067|SCTID:6121001|MESH:D017573|NCIT:C97083|ICD9:528.79|OMIM:229045|EFO:0007275		multifocal epithelial hyperplasia|heck's disease|heck disease|FEH, oral|focal epithelial hyperplasia, oral	http://purl.obolibrary.org/obo/MONDO_0009237	Hyperplasia characterized by the presence of a focal proliferation of epithelial cells.	http://identifiers.org/omim/229045|DOID:5362|UMLS:C0206067|SNOMEDCT:6121001|NCIT:C97083|MESH:D017573
MONDO:0010208	wrinkly skin syndrome	biolink:Disease	mondo	ICD10:Q82.8|Orphanet:2834|OMIM:278250|ICD9:259.8|MESH:C536750|SCTID:238875009|UMLS:C0406587|GARD:0000273	ordo_clinical_subtype	wrinkly skin syndrome; WSS|WSS|wrinkled skin syndrome|wrinkly skin syndrome	http://purl.obolibrary.org/obo/MONDO_0010208	Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism).	SNOMEDCT:238875009|UMLS:C0406587|ORPHA:2834|MESH:C536750|http://identifiers.org/omim/278250
MONDO:0009236	Kandori fleck retina	biolink:Disease	mondo	OMIM:228990|Orphanet:99179|ICD10:H35.5|UMLS:C0271257|MESH:C562701|SCTID:765191009	ordo_malformation_syndrome	FLECK retina of KANDORI	http://purl.obolibrary.org/obo/MONDO_0009236	Kandori fleck retina is a rare, genetic retinal dystrophy characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness.	ORPHA:99179|SNOMEDCT:765191009|UMLS:C0271257|http://identifiers.org/omim/228990|MESH:C562701
MONDO:0012868	thrombophilia due to protein S deficiency, autosomal dominant	biolink:Disease	mondo	OMIM:612336|ICD10:D68.8|UMLS:C3278211|MESH:C567077|MedDRA:10068370|Orphanet:26349	ordo_disease	THPH5|protein S acquired deficiency|thrombophilia due to protein S deficiency, autosomal dominant; THPH5|hereditary thrombophilia due to congenital protein S deficiency, autosomal dominant|thrombophilia due to protein S deficiency, autosomal dominant|autosomal dominant hereditary thrombophilia due to congenital protein S deficiency	http://purl.obolibrary.org/obo/MONDO_0012868	Autosomal dominant form of hereditary thrombophilia due to congenital protein S deficiency.	http://identifiers.org/omim/612336|UMLS:C2363755|ORPHA:26349|UMLS:C3278211|MEDDRA:10068370|MESH:C567077
MONDO:0010207	woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome	biolink:Disease	mondo	GARD:0005594|Orphanet:1409|SCTID:239023005|MESH:C536746|OMIM:278200	ordo_malformation_syndrome	woolly hair, hypotrichosis, everted LOWER LIP, and outstanding ears|wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome|Salamon syndrome|woolly hair hypotrichosis everted lower lip and outstanding ears	http://purl.obolibrary.org/obo/MONDO_0010207		UMLS:C0406718|ORPHA:1409|MESH:C536746|http://identifiers.org/omim/278200|SNOMEDCT:239023005
MONDO:0009235	familial benign flecked retina	biolink:Disease	mondo	OMIM:228980|MESH:C565564|DOID:0111677|UMLS:C1856718|Orphanet:363989|ICD10:H35.5	ordo_disease	FLECK retina, familial benign|FRFB|FLECK retina, familial benign; FRFB	http://purl.obolibrary.org/obo/MONDO_0009235	Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits.	ORPHA:363989|UMLS:C1856718|http://identifiers.org/omim/228980|DOID:0111677|MESH:C565564
MONDO:0010209	xanthinuria type I	biolink:Disease	mondo	MESH:C562584|ICD10:E79.8|Orphanet:93601|GARD:0005621|SCTID:72682008|OMIM:278300	ordo_etiological_subtype	XO deficiency|xanthinuria type 1|XOR deficiency|xanthine oxidoreductase deficiency|xanthinuria, type I; XAN1|xanthinuria, type I|hereditary xanthinuria, type I|xanthine oxidase deficiency|XDH deficiency|xanthine dehydrogenase deficiency|XAN1|isolated xanthine oxidase deficiency|type 1 xanthinuria|xanthinuria, type 1	http://purl.obolibrary.org/obo/MONDO_0010209	Type I xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.	http://identifiers.org/omim/278300|MESH:C562584|SNOMEDCT:72682008|ORPHA:93601
MONDO:0009234	congenital high-molecular-weight kininogen deficiency	biolink:Disease	mondo	MESH:C537060|OMIM:228960|NCIT:C98946|ICD10:D68.8|GARD:0002684|ICD9:286.9|DOID:0111676|Orphanet:483|SCTID:27312002	ordo_disease|gard_rare	HMWK|Fitzgerald trait kininogen deficiency, total, included|Flaujeac trait|Flaujeac factor deficiency|Flaujeac trait, included|Hmwk deficiency|kininogen deficiency, high molecular weight|kininogen deficiency, high molecular weight and Low molecular weight|Williams trait|kininogen deficiency, total|high molecular weight kininogen deficiency|Fitzgerald trait|high-molecular-weight kininogen deficiency, congenital|HMWK deficiency|Williams trait, included|kininogen deficiency, high molecular weight and LOW molecular weight, included	http://purl.obolibrary.org/obo/MONDO_0009234	A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis.	MESH:C537060|http://identifiers.org/omim/228960|ORPHA:483|DOID:0111676|SNOMEDCT:27312002|NCIT:C98946
MONDO:0009233	Fibulo-ulnar hypoplasia-renal anomalies syndrome	biolink:Disease	mondo	UMLS:C1856727|ICD10:Q87.8|MESH:C537226|Orphanet:2256|GARD:0000320|SCTID:716094008|OMIM:228940	ordo_malformation_syndrome	Saito Kuba Tsuruta syndrome|FIBULOULNAR aplasia or hypoplasia with renal abnormalities|Saito-Kuba-Tsuruta syndrome|Fibulo ulnar hypoplasia renal anomalies	http://purl.obolibrary.org/obo/MONDO_0009233	Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait.	MESH:C537226|UMLS:C1856727|http://identifiers.org/omim/228940|SNOMEDCT:716094008|ORPHA:2256
MONDO:0009232	Fuhrmann syndrome	biolink:Disease	mondo	DOID:0090067|MESH:C538189|UMLS:C1856728|Orphanet:2854|GARD:0002410|ICD10:Q74.8|SCTID:721296004|OMIM:228930	gard_rare|ordo_malformation_syndrome	Fuhrmann syndrome|Fuhrmann-Rieger-de Sousa syndrome|fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly|fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome|bowing of the femurs, aplasia or hypoplasia of the fibula, and digital anomalies	http://purl.obolibrary.org/obo/MONDO_0009232	Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly.	ORPHA:2854|http://identifiers.org/omim/228930|UMLS:C1856728|SNOMEDCT:721296004|DOID:0090067|MESH:C538189
MONDO:0009231	fibular hypoplasia and complex brachydactyly	biolink:Disease	mondo	ICD10:Q73.8|MESH:C537931|Orphanet:2639|GARD:0009879|SCTID:715474004|UMLS:C1856738|DOID:0050790|KEGG:H00467|OMIM:228900	gard_rare|ordo_malformation_syndrome	fibular aplasia-complex brachydactyly syndrome|Du Pan syndrome|fibular hypoplasia and complex brachydactyly	http://purl.obolibrary.org/obo/MONDO_0009231		ORPHA:2639|http://identifiers.org/omim/228900|MESH:C537931|UMLS:C1856738|DOID:0050790|SNOMEDCT:715474004
MONDO:0012872	THPH9	biolink:Disease	mondo	MESH:C567341|OMIM:612348		thrombophilia, familial, due to decreased release of tissue plasminogen activator; THPH9|THPH9|hyperfibrinolysis, familial, due to increased release of tissue plasminogen activator|thrombophilia, familial, due to decreased release of tissue plasminogen activator	http://purl.obolibrary.org/obo/MONDO_0012872		MESH:C567341|http://identifiers.org/omim/612348
MONDO:0009230	fibrosclerosis, multifocal	biolink:Disease	mondo	OMIM:228800|ICD9:710.8|SCTID:111210001|ICD10:M35.5|GARD:0005697|MESH:C537375		retroperitoneal fibrosis, familial|multifocal fibrosclerosis|fibrosclerosis, multifocal|mediastinal fibrosis, familial	http://purl.obolibrary.org/obo/MONDO_0009230		MESH:C537375|http://identifiers.org/omim/228800|SNOMEDCT:111210001
MONDO:0012873	Ehlers-Danlos syndrome, spondylocheirodysplastic type	biolink:Disease	mondo	OMIM:612350|ICD10:Q79.6|MESH:C567340|UMLS:C2676510|Orphanet:157965	ordo_disease	SCD-EDS|Ehlers-Danlos syndrome, spondylodysplastic type, 3; EDSSPD3|EDSSPD3|spondylocheirodysplasia, Ehlers-Danlos syndrome-like|EDS, spondylocheirodysplastic type|Ehlers-Danlos syndrome, spondylodysplastic type, 3	http://purl.obolibrary.org/obo/MONDO_0012873	Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers.	ORPHA:157965|MESH:C567340|http://identifiers.org/omim/612350|UMLS:C2676510
MONDO:0012870	chromosome 2q31.2 deletion syndrome	biolink:Disease	mondo	MESH:C567344|OMIM:612345|DOID:0060416|UMLS:C2676724		chromosome 2q31.2 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0012870		DOID:0060416|MESH:C567344|http://identifiers.org/omim/612345|UMLS:C2676724
MONDO:0010211	xeroderma pigmentosum group C	biolink:Disease	mondo	NCIT:C114770|DOID:0110844|SCTID:25784009|UMLS:C2752147|OMIM:278720|Orphanet:276255|ICD10:Q82.1|GARD:0005626|MESH:C567886	gard_rare	xeroderma pigmentosum, complementation group C; XPC|XP-C|xeroderma pigmentosum, type 3|xeroderma pigmentosum III|XP3|xeroderma pigmentosum 3|XP, Group C|XP group C|xeroderma pigmentosum, complementation group C|XPC|XPCC|xeroderma pigmentosum, complementation group type C|xeroderma pigmentosum group type C	http://purl.obolibrary.org/obo/MONDO_0010211	An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair.	UMLS:C2752147|NCIT:C114770|DOID:0110844|ORPHA:276255|http://identifiers.org/omim/278720|SNOMEDCT:25784009|MESH:C567886
MONDO:0010210	xeroderma pigmentosum group A	biolink:Disease	mondo	UMLS:C0268135|GARD:0005624|DOID:0110843|OMIM:278700|NCIT:C3965|SCTID:43477006|Orphanet:276249|ICD10:Q82.1	gard_rare	xeroderma pigmentosum, complementation group type a|xeroderma pigmentosum, complementation group A; XPA|xeroderma pigmentosum group type A|xeroderma pigmentosum, type 1|XPA xeroderma pigmentosum|XP group A|xeroderma pigmentosum 1|XP1|XPA|XP, group A|xeroderma pigmentosum caused by mutation in XPA|xeroderma pigmentosum, complementation group A|xeroderma pigmentosum complementation group A|XP-A	http://purl.obolibrary.org/obo/MONDO_0010210	Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene.	SNOMEDCT:43477006|DOID:0110843|ORPHA:276249|http://identifiers.org/omim/278700|UMLS:C0268135|NCIT:C3965
MONDO:0012871	Jervell and Lange-Nielsen syndrome 2	biolink:Disease	mondo	MESH:C567343|OMIM:612347|GARD:0010364	gard_rare	Jervell and Lange-Nielsen syndrome caused by mutation in KCNE1|Jervell and Lange-Nielsen syndrome type 2|KCNE1 Jervell and Lange-Nielsen syndrome|Jervell and Lange-Nielsen syndrome 2; JLNS2|Jervell and Lange-Nielsen syndrome 2|JLNS2	http://purl.obolibrary.org/obo/MONDO_0012871	Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNE1 gene.	MESH:C567343|http://identifiers.org/omim/612347
MONDO:0010213	xeroderma pigmentosum group E	biolink:Disease	mondo	NCIT:C114771|DOID:0110846|Orphanet:276261|OMIM:278740|UMLS:C1848411|ICD10:Q82.1|MESH:C564732|SCTID:56048001|GARD:0005627	gard_rare	XP, Group E|xeroderma pigmentosum 5|XP5|XPE|XP-E|xeroderma pigmentosum, type 5|XP group E|xeroderma pigmentosum, complementation group type E|xeroderma pigmentosum V|xeroderma pigmentosum group type E|XPe|xeroderma pigmentosum, complementation group E	http://purl.obolibrary.org/obo/MONDO_0010213	An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer.	SNOMEDCT:56048001|MESH:C564732|DOID:0110846|NCIT:C114771|ORPHA:276261|UMLS:C1848411|http://identifiers.org/omim/278740
MONDO:0012876	heparin cofactor 2 deficiency	biolink:Disease	mondo	OMIM:612356|MESH:C562865|SCTID:234468009|ICD9:286.3|UMLS:C0398626		Hcf2 deficiency|thrombophilia due to heparin cofactor 2 deficiency|Hcf 2 deficiency|heparin cofactor II deficiency	http://purl.obolibrary.org/obo/MONDO_0012876		SNOMEDCT:234468009|MESH:C562865|http://identifiers.org/omim/612356|UMLS:C0398626
MONDO:0012877	major affective disorder 8	biolink:Disease	mondo	OMIM:612357|MESH:C567530		bipolar affective disorder|MAJOR affective disorder 8; MAFD8|major affective disorder 8|MAFD8	http://purl.obolibrary.org/obo/MONDO_0012877		http://identifiers.org/omim/612357|MESH:C567530
MONDO:0010212	xeroderma pigmentosum group D	biolink:Disease	mondo	DOID:0110845|MESH:C562591|NCIT:C3967|OMIM:278730|Orphanet:276258|ICD10:Q82.1|SCTID:68637004		xeroderma pigmentosum caused by mutation in ERCC2|XP, Group H|XPH|XP8|xeroderma pigmentosum VIII|XP group H|XP, Group D|xeroderma pigmentosum 4|XP4 xeroderma pigmentosum VIII, formerly|XP4|xeroderma pigmentosum, complementation group D|XP4 xeroderma pigmentosum VIII|XP group D|xeroderma pigmentosum IV|XPD|XPDC|ERCC2 xeroderma pigmentosum|xeroderma pigmentosum, complementation group type D|xeroderma pigmentosum group type D|XP, Group H, formerly|XP-D|xeroderma pigmentosum, complementation group D; XPD	http://purl.obolibrary.org/obo/MONDO_0010212	Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC2 gene.	DOID:0110845|ORPHA:276258|MESH:C562591|http://identifiers.org/omim/278730|SNOMEDCT:68637004|NCIT:C3967
MONDO:0010215	xeroderma pigmentosum group F	biolink:Disease	mondo	MESH:C562592|NCIT:C3968|SCTID:42530008|OMIM:278760|ICD10:Q82.1|Orphanet:276264|GARD:0005628|DOID:0110848	gard_rare	XP6|xeroderma pigmentosum 6|xeroderma pigmentosum, complementation group F|xeroderma pigmentosum, type F/Cockayne syndrome|xeroderma pigmentosum, type 6|XP group F|xeroderma pigmentosum VI|XPF|xeroderma pigmentosum, complementation group type F|xeroderma pigmentosum group type F|ERCC4 xeroderma pigmentosum|XP, group F|xeroderma pigmentosum, complementation group F; XPF|XP-F|xeroderma pigmentosum caused by mutation in ERCC4	http://purl.obolibrary.org/obo/MONDO_0010215	Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC4 gene.	SNOMEDCT:42530008|DOID:0110848|ORPHA:276264|MESH:C562592|http://identifiers.org/omim/278760|NCIT:C3968
MONDO:0012874	POROK6	biolink:Disease	mondo	OMIM:612353|UMLS:C2676508|MESH:C567339		porokeratosis 6, multiple types; POROK6|porokeratosis, disseminated superficial actinic, 4|porokeratosis 6, disseminated superficial actinic type; POROK6|porokeratosis 6, disseminated superficial|porokeratosis 6, disseminated superficial actinic type|POROK6	http://purl.obolibrary.org/obo/MONDO_0012874		MESH:C567339|http://identifiers.org/omim/612353|UMLS:C2676508
MONDO:0010214	xeroderma pigmentosum variant type	biolink:Disease	mondo	UMLS:C1848410|ICD10:Q82.1|GARD:0005630|NCIT:C141367|Orphanet:90342|OMIM:278750|MESH:C536766|DOID:0110847	gard_rare|ordo_disease	xeroderma pigmentosum with normal DNA repair rates|xeroderma pigmentosum variant|xeroderma pigmentosum, variant type|xeroderma pigmentosum with normal DNA repair rates|photosensitivity with defective DNA synthesis|XPV|xeroderma pigmentosum, variant type; XPV	http://purl.obolibrary.org/obo/MONDO_0010214	Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.	MESH:C536766|UMLS:C0432328|DOID:0110847|UMLS:C1848410|NCIT:C141367|http://identifiers.org/omim/278750|ORPHA:90342
MONDO:0012875	inflammatory bowel disease 21	biolink:Disease	mondo	OMIM:612354|DOID:0110906|UMLS:C2676507|MESH:C567338		inflammatory bowel disease 21|inflammatory bowel disease type 21|inflammatory bowel disease 21; IBD21|IBD21	http://purl.obolibrary.org/obo/MONDO_0012875	An inflammatory bowel disease that has material basis in variation in the chromosome region 18p11.	DOID:0110906|MESH:C567338|http://identifiers.org/omim/612354|UMLS:C2676507
GO:0038065	collagen-activated signaling pathway	biolink:OntologyClass	mondo			collagen-activated signalling pathway	http://purl.obolibrary.org/obo/GO_0038065	A series of molecular signals initiated by collagen binding to a cell surface receptor, and ending with regulation of a downstream cellular process, e.g. transcription.	
GO:0038064	collagen receptor activity	biolink:OntologyClass	mondo			transmembrane collagen receptor activity	http://purl.obolibrary.org/obo/GO_0038064	Combining with a collagen and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity.	
MONDO:0000899	obsolete malignant epithelioid hemangioendothelioma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000899		
MONDO:0022266		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0022266		
MONDO:0022267		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0022267		
GO:1905292	regulation of neural crest cell differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1905292	Any process that modulates the frequency, rate or extent of neural crest cell differentiation.	
GO:0099055	integral component of postsynaptic membrane	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0099055	The component of the postsynaptic membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.	
GO:1905293	negative regulation of neural crest cell differentiation	biolink:OntologyClass	mondo			down regulation of neural crest cell differentiation|inhibition of neural crest cell differentiation|downregulation of neural crest cell differentiation|down-regulation of neural crest cell differentiation	http://purl.obolibrary.org/obo/GO_1905293	Any process that stops, prevents or reduces the frequency, rate or extent of neural crest cell differentiation.	
GO:1905294	positive regulation of neural crest cell differentiation	biolink:OntologyClass	mondo			up-regulation of neural crest cell differentiation|up regulation of neural crest cell differentiation|activation of neural crest cell differentiation|upregulation of neural crest cell differentiation	http://purl.obolibrary.org/obo/GO_1905294	Any process that activates or increases the frequency, rate or extent of neural crest cell differentiation.	
MONDO:0009289	obsolete glycogen storage disease IC	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0009289		
MONDO:0009288	glycogen storage disease due to glucose-6-phosphatase deficiency type IB	biolink:Disease	mondo	ICD10:E74.0|Orphanet:79259|SCTID:30102006|OMIM:232220|NCIT:C122661|UMLS:C0342749|SCTID:237965005|OMIM:232240|MESH:C562594|GARD:0002515	ordo_clinical_subtype	glycogen storage disease Id|glycogen storage disease type Ic|glycogen storage disease Ic; GSD1C|GSD Ic|GSD due to G6P deficiency type IB|glycogenosis due to glucose-6-phosphatase transport defect type IB|glycogen storage disease due to G6P deficiency type IB|GSD type IB|glycogen storage disease Ib; GSD1B|G6P deficiency type IB|glycogen storage disease type IB|GSD Ib|G6PT deficiency|glucose-6-phosphate Transport defect|glycogenosis type 1b|GSD due to G6PT deficiency|glycogen storage disease type I non-a|GSDIb|GSD1B|Gsd1C|GSD type 1 non a|glycogenosis due to glucose-6-phosphatase deficiency type 1b|glycogen storage disease Ib|GSD type 1b|glycogen storage disease Ic|glycogen storage disease type 1b|G6P translocase deficiency|glycogenosis type IB	http://purl.obolibrary.org/obo/MONDO_0009288	Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency.	MESH:C562594|SNOMEDCT:237965005|NCIT:C122661|http://identifiers.org/omim/232240|http://identifiers.org/omim/232220|SNOMEDCT:30102006|ORPHA:79259|UMLS:C0342749
MONDO:0009287	glycogen storage disease due to glucose-6-phosphatase deficiency type IA	biolink:Disease	mondo	UMLS:CN205860|GARD:0007864|ICD10:E74.0|UMLS:C2919796|SCTID:444707001|OMIM:232200|UMLS:CN069618|Orphanet:79258	ordo_clinical_subtype	hepatorenal form of glycogen storage disease|glycogenosis due to glucose-6-phosphatase deficiency type Ia|GSD due to G6P deficiency type Ia|glycogen storage disease due to G6P deficiency type Ia|glucose-6-phosphatase deficiency|glycogen storage disease Ia; GSD1A|hepatorenal glycogenosis|glycogen storage disease 1A|glycogen storage disease type Ia|Von Gierke disease|GSD Ia|glycogen storage disease caused by mutation in G6PC|glycogenosis due to glucose-6-phosphatase deficiency type 1a|GSDIa|GSD1A|GSD due to G6P deficiency type 1a|G6PC glycogen storage disease|G6P deficiency type 1a|glucose-6-phosphatase deficiency glycogen storage disease|GSD type 1a|glycogen storage disease Ia|glycogen storage disease type 1a|glycogenosis type Ia|GSD1|glycogen storage disease 1	http://purl.obolibrary.org/obo/MONDO_0009287	Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency.	UMLS:CN205860|http://identifiers.org/omim/232200|UMLS:C2919796|UMLS:CN069618|ORPHA:79258|SNOMEDCT:444707001
MONDO:0022263	obsolete congenital hepatic fibrosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0022263		
MONDO:0009286	gluteal muscles, absence of	biolink:Disease	mondo	OMIM:231970|MESH:C535561|GARD:0008518	gard_rare	congenital absence of gluteal muscles|gluteal muscle, absence of|gluteal muscles, absence of|absence of gluteal muscle	http://purl.obolibrary.org/obo/MONDO_0009286		http://identifiers.org/omim/231970|MESH:C535561
MONDO:0010286	syndromic X-linked intellectual disability Siderius type	biolink:Disease	mondo	Orphanet:85287|UMLS:C1846055|GARD:0009704|OMIM:300263|ICD10:Q87.8|DOID:0060812|MESH:C537333	ordo_malformation_syndrome	Siderius Hamel syndrome|Siderius X-linked intellectual disability syndrome; MRXSSD|Siderius X-linked intellectual disability syndrome|X-linked intellectual disability Hamel type|X-linked mental retardation Hamel type|mental retardation X-linked Siderius type|X-linked intellectual disability, Siderius type|intellectual deficit X-linked Siderius type|mental retardation syndrome, X-linked, Siderius type|mental retardation, X-linked, syndromic, Siderius type|intellectual disability syndrome, X-linked, Siderius type|intellectual disability X-linked Siderius type|Siderius-Hamel syndrome|Siderius X-linked mental retardation syndrome; MRXSSD|intellectual disability, X-linked, syndromic, Siderius type|MRXSSD|Siderius X-linked mental retardation syndrome|MRXSSD	http://purl.obolibrary.org/obo/MONDO_0010286		MESH:C537333|ORPHA:85287|DOID:0060812|UMLS:C1846055|http://identifiers.org/omim/300263
MONDO:0009285	gamma-glutamyl transpeptidase deficiency	biolink:Disease	mondo	OMIM:231950|DOID:0111257|SCTID:78586005|GARD:0010099|ICD9:270.8|ICD10:E72.8|MESH:C536836|UMLS:C0268524|Orphanet:33573	ordo_disease	gamma-glutamyltranspeptidase deficiency|rare inborn error of glutathione hydrolase activity|GGT1 deficiency|GGT deficiency|glutathionuria|inborn glutathione hydrolase activity disorder|GTG deficiency|inborn error of glutathione hydrolase activity|rare inborn error of glutathione hydrolase activity|gamma-glutamyltransferase deficiency	http://purl.obolibrary.org/obo/MONDO_0009285	Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.	UMLS:C0268524|ORPHA:33573|DOID:0111257|MESH:C536836|http://identifiers.org/omim/231950|SNOMEDCT:78586005
MONDO:0010285	syndromic X-linked intellectual disability Abidi type	biolink:Disease	mondo	ICD10:Q87.8|MESH:C535556|OMIM:300262|Orphanet:85273|DOID:0060818|UMLS:C1846056|GARD:0009157	ordo_malformation_syndrome	short stature, small head circumference, sloping forehead, hearing loss, cupped ears and small testes|syndromic X-linked intellectual disability Abidi type|MRXSAB|syndromic X-linked mental retardation Abidi type|ABIDI X-linked mental retardation syndrome|intellectual disability, X-linked syndromic, Abidi type|intellectual disability X-linked Abidi type|mental retardation, X-linked syndromic, Abidi type|X-linked intellectual disability, Abidi type|ABIDI X-linked intellectual disability syndrome|mental retardation, X-linked, syndromic, Abidi type|ABIDI X-linked mental retardation syndrome; MRXSAB|intellectual disability, X-linked, syndromic, Abidi type|ABIDI X-linked intellectual disability syndrome; MRXSAB	http://purl.obolibrary.org/obo/MONDO_0010285	X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations.	ORPHA:85273|MESH:C535556|DOID:0060818|UMLS:C1846056|http://identifiers.org/omim/300262
HGNC:11642	ZEB1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11642		
MONDO:0009284	glutathione synthetase deficiency without 5-oxoprolinuria	biolink:Disease	mondo	Orphanet:289849|MESH:C565545|ICD10:D55.1|OMIM:231900|UMLS:C1856399	ordo_clinical_subtype	GSSDE|glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to|glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to; GSSDE	http://purl.obolibrary.org/obo/MONDO_0009284		ORPHA:289849|UMLS:C1856399|MESH:C565545|http://identifiers.org/omim/231900
MONDO:0010288	adrenomyodystrophy	biolink:Disease	mondo	MESH:C538051|UMLS:C1846044|SCTID:763311001|Orphanet:977|OMIM:300270|GARD:0000562	ordo_disease	adrenomyodystrophy	http://purl.obolibrary.org/obo/MONDO_0010288	Adrenomyodystrophy is an extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982.	MESH:C538051|SNOMEDCT:763311001|ORPHA:977|UMLS:C1846044|http://identifiers.org/omim/300270
HGNC:11641	TCF7L2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11641		
MONDO:0010287	hereditary spastic paraplegia 16	biolink:Disease	mondo	MESH:C536643|UMLS:C1846046|GARD:0009585|DOID:0110769|Orphanet:100997|ICD10:G11.4|OMIM:300266	ordo_disease	spastic paraplegia 16|spastic paraplegia 16, X-linked|spastic paraplegia 16, X-linked; SPG16|X-linked spastic paraplegia type 16|hereditary spastic paraplegia type 16|SPG16|X-linked spastic paraplegia 16	http://purl.obolibrary.org/obo/MONDO_0010287	A hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq11.2.	ORPHA:100997|MESH:C536643|DOID:0110769|UMLS:C1846046|http://identifiers.org/omim/300266
MONDO:0009283	glutaric acidemia type 3	biolink:Disease	mondo	ICD10:E72.3|OMIM:231690|GARD:0012469|SCTID:238070003|ICD9:270.2|MESH:C562818|Orphanet:35706|UMLS:C0342873	ordo_disease|gard_rare	GA III|glutaric aciduria (disease) caused by mutation in SUGCT|glutaric aciduria type III|Ga 3|glutaric aciduria type 3|glutaric aciduria III|glutaryl-CoA oxidase deficiency|GA3|glutaryl-Coa oxidase deficiency|glutaric aciduria III; GA3|SUGCT glutaric aciduria (disease)|glutaric aciduria 3|glutaric acidemia type III	http://purl.obolibrary.org/obo/MONDO_0009283	Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive.	MESH:C562818|ORPHA:35706|http://identifiers.org/omim/231690|UMLS:C0342873|SNOMEDCT:238070003
MONDO:0009282	multiple acyl-CoA dehydrogenase deficiency	biolink:Disease	mondo	OMIM:231680|GARD:0006523|ICD10:E71.3|DOID:0060358|ICD10:E71.313|NCIT:C84907|UMLS:C0268596|Orphanet:26791	ordo_disease	glutaric acidemia type 2|glutaric acidemia 2B|glutaric acidemia 2A|glutaric acidemia 2|multiple acyl Coenzyme A dehydrogenase deficiency|Etfa deficiency|ethylmalonic-Adipicaciduria|Etfdh deficiency|Etfb deficiency|glutaric aciduria type 2|MAD deficiency|Ga 2|EMA|multiple acyl-CoA dehydrogenase deficiency|glutaric acidemia type II|electron transfer flavoprotein deficiency|glutaric acidemia type II|glutaric aciduria 2|MADD|electron transfer flavoprotein ubiquinone oxidoreductase deficiency|multiple acyl-CoA dehydrogenase deficiency; MADD|glutaric aciduria, type 2|glutaric acidemia 2C	http://purl.obolibrary.org/obo/MONDO_0009282	A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure.	NCIT:C84907|UMLS:C0268596|NCIT:C99102|http://identifiers.org/omim/231680|ORPHA:26791|DOID:0060358
HGNC:11647	TCIRG1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11647		
MONDO:0010289	intellectual disability, X-linked 72	biolink:Disease	mondo	MESH:C564547|OMIM:300271|UMLS:C1846038		mental retardation, X-linked 72; MRX72|intellectual disability, X-linked type 72|mental retardation, X-linked 72|intellectual disability, X-linked 72|MRX72|mental retardation, X-linked type 72|intellectual disability, X-linked 72; MRX72	http://purl.obolibrary.org/obo/MONDO_0010289		MESH:C564547|UMLS:C1846038|http://identifiers.org/omim/300271
MONDO:0009281	glutaryl-CoA dehydrogenase deficiency	biolink:Disease	mondo	Orphanet:25|UMLS:C0268595|GARD:0006522|OMIM:231670|DOID:0111254|MESH:C536833|NCIT:C99101|ICD10:E72.3|SCTID:76175005	ordo_disease	glutaric acidemia, type 1|GA1|GCDHD|glutaric aciduria type 1|glutaryl-CoA dehydrogenase deficiency|Ga 1|glutaric acidemia type I|glutaryl-coenzyme A dehydrogenase deficiency|glutaric acidemia I; GA1|glutaric acidemia 1|glutaric acidemia I|glutaric acidemia type 1|glutaric aciduria type I|glutaric aciduria, type 1|glutaric aciduria 1	http://purl.obolibrary.org/obo/MONDO_0009281	Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.	ORPHA:25|UMLS:C0268595|DOID:0111254|NCIT:C99101|http://identifiers.org/omim/231670|MESH:C536833|SNOMEDCT:76175005
MONDO:0009280	monosodium glutamate sensitivity	biolink:Disease	mondo	OMIM:231630|MESH:C562377|UMLS:C0008127|SCTID:56344009|ICD9:989.89		monosodium glutamate sensitivity|Chinese restaurant syndrome	http://purl.obolibrary.org/obo/MONDO_0009280		SNOMEDCT:56344009|UMLS:C0008127|http://identifiers.org/omim/231630|MESH:C562377
MONDO:0010280	ptosis, hereditary congenital 2	biolink:Disease	mondo	MESH:C564553|UMLS:C1846128|OMIM:300245		ptosis, hereditary congenital 2|Ptos2|ptosis, X-linked|ptosis, hereditary congenital type 2	http://purl.obolibrary.org/obo/MONDO_0010280		MESH:C564553|http://identifiers.org/omim/300245|UMLS:C1846128
MONDO:0010282	mycobacterium tuberculosis, susceptibility to, X-linked	biolink:Disease	mondo	OMIM:300259	predisposition	MTBSX|mycobacterium tuberculosis, susceptibility to, X-linked	http://purl.obolibrary.org/obo/MONDO_0010282		http://identifiers.org/omim/300259
MONDO:0010281	Danon disease	biolink:Disease	mondo	UMLS:C0878677|EFO:1001333|Orphanet:34587|OMIM:300257|MESH:D052120|SCTID:419097006|ICD10:E74.0|ICD9:759.89|GARD:0009730|NCIT:C84735|DOID:0050437	ordo_disease|gard_rare	pseudoglycogenosis 2|lysosomal glycogen storage disease with normal acid maltase activity|lysosomal glycogen storage disease without acid maltase deficiency (formerly)|glycogen storage disease limited to the heart|vacuolar cardiomyopathy and myopathy X-linked|GSD IIb, formerly|X-linked vacuolar cardiomyopathy and myopathy|Danon disease|GSD IIb|pseudoglycogenosis II|GSD due to LAMP-2 deficiency|glycogen storage disease IIb|glycogen storage cardiomyopathy|GSD2B (formerly)|LAMP2 lysosomal glycogen storage disease|ANTOPOL disease|glycogen storage disease due to LAMP-2 deficiency|glycogenosis due to LAMP-2 deficiency|lysosomal glycogen storage disease without acid maltase deficiency, formerly|glycogen storage disease type 2b (formerly)|lysosomal glycogen storage disease caused by mutation in LAMP2|lysosomal glycogen storage disease without acid maltase deficiency|Antopol disease|vacuolar cardiomyopathy and myopathy, X-linked|glycogen storage disease type IIb	http://purl.obolibrary.org/obo/MONDO_0010281	Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.	DOID:0050437|MESH:D052120|UMLS:C0878677|http://identifiers.org/omim/300257|NCIT:C84735|ORPHA:34587|SNOMEDCT:419097006
MONDO:0010284	Armfield syndrome	biolink:Disease	mondo	ICD10:Q87.8|OMIM:300261|DOID:0050764|MESH:C564551|SCTID:719017003|UMLS:C1846057|Orphanet:85276	ordo_malformation_syndrome	Armfield X-linked intellectual disability syndrome; MRXSA|Armfield X-linked mental retardation syndrome; MRXSA|intellectual disability syndrome, X-linked, Armfield type|Armfield X-linked mental retardation syndrome|syndromic X-linked mental retardation Armfield type|X-linked intellectual disability, Armfield type|intellectual disability, X-linked, syndromic, Armfield type|Armfield X-linked intellectual disability syndrome|mental retardation, X-linked, syndromic, Armfield type|MRXSA|mental retardation syndrome, X-linked, Armfield type|Armfield syndrome|syndromic X-linked intellectual disability Armfield type	http://purl.obolibrary.org/obo/MONDO_0010284	X-linked intellectual disability, Armfield type is characterised by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28.	ORPHA:85276|SNOMEDCT:719017003|DOID:0050764|MESH:C564551|UMLS:C1846057|http://identifiers.org/omim/300261
MONDO:0010283	syndromic X-linked intellectual disability Lubs type	biolink:Disease	mondo	DOID:0060799|ICD10:Q87.8|GARD:0009781|Orphanet:1762|ICD10:Q99.8|UMLS:C1846058|ICD9:758.89|MESH:C537723|SCTID:702816000|NCIT:C126747|OMIM:300260	ordo_malformation_syndrome	MRXSL|MECP2 Duplication syndrome|Lubs X-linked intellectual disability syndrome; MRXSL|Lubs X-linked mental retardation syndrome|Lubs X-linked mental retardation syndrome|MECP2 duplication syndrome|Lubs X-linked mental retardation syndrome (formerly)|mental retardation, X-linked, with recurrent respiratory infections|intellectual disability, X-linked, with recurrent respiratory infections|X-linked intellectual disability-hypotonia-recurrent infections syndrome|Lubs X-linked intellectual disability syndrome|intellectual disability, X-linked, Lubs type (formerly)|intellectual disability, X-linked, syndromic, Lubs type|XLMR syndrome, Lubs type|Lubs X-linked intellectual disability syndrome|Lubs X-linked mental retardation syndrome; MRXSL|telomeric duplication Xq|mental retardation, X-linked, syndromic, Lubs type|mental retardation, X-linked, Lubs type (formerly)|distal duplication Xq|Lubs X-linked intellectual disability syndrome (formerly)|trisomy Xq28	http://purl.obolibrary.org/obo/MONDO_0010283	Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown.	ORPHA:1762|MESH:C537723|NCIT:C126747|DOID:0060799|SNOMEDCT:702816000|http://identifiers.org/omim/300260|UMLS:C1846058
HGNC:23631	NPSR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23631		
HP:0001417	X-linked inheritance	biolink:PhenotypicFeature	mondo	UMLS:C0241764|MSH:D050172|SNOMEDCT_US:263934009		X-linked form|X-linked	http://purl.obolibrary.org/obo/HP_0001417	A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome.	
MONDO:0009299	46 XX gonadal dysgenesis	biolink:Disease	mondo	NCIT:C120197|UMLS:C0949595|DOID:14450|SCTID:95198001|OMIMPS:233300|DC:0000000|ICD10:Q99.1|Orphanet:243|MESH:D023961	ordo_malformation_syndrome	XX gonadal dysgenesis|46,XX ovarian dysgenesis|follicular stimulating hormone-resistant ovaries|46,XX gonadal dysgenesis|hypergonadotropic ovarian dysgenesis|ovarian dysgenesis|FSH-RO|XX-GD|XX female gonadal dysgenesis|46,XX pure gonadal dysgenesis|46,XX complete gonadal dysgenesis	http://purl.obolibrary.org/obo/MONDO_0009299	46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.	MESH:D023961|UMLS:C0949595|NCIT:C120197|SNOMEDCT:95198001|ORPHA:243|DOID:14450|UMLS:C0685837
HP:0001419	X-linked recessive inheritance	biolink:PhenotypicFeature	mondo	UMLS:C1845977		X-linked recessive	http://purl.obolibrary.org/obo/HP_0001419	A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.	
MONDO:0009298	GOMBO syndrome	biolink:Disease	mondo	MESH:C537284|UMLS:C1856274|GARD:0002537|OMIM:233270		GOMBO syndrome|Growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia	http://purl.obolibrary.org/obo/MONDO_0009298		http://identifiers.org/omim/233270|MESH:C537284|UMLS:C1856274
MONDO:0010275	spondyloepimetaphyseal dysplasia, Bieganski type	biolink:Disease	mondo	OMIM:300232|OMIM:300660|UMLS:C1846148|Orphanet:83629|ICD10:G11.4|MESH:C567065|Orphanet:168448|ICD10:Q77.7|MESH:C536671|GARD:0004891	ordo_disease	LKMCD|SEMD, X-linked, with mental deterioration|SEMD X-linked with mental deterioration|leukoencephalopathy with metaphyseal chondrodysplasia|spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration|leukoencephalopathy with metaphyseal chondrodysplasia; LKMCD|spondyloepimetaphyseal dysplasia x-linked with mental deterioration	http://purl.obolibrary.org/obo/MONDO_0010275	Spondyloepimetaphyseal dysplasia, Bieganski type is a rare primary bone dysplasia disorder characterized by infantile-onset, progressive, multiple skeletal deformities in association with slowly progressive central and peripheral neurodegeneration. Patients present short stature, coarse facies, psychomotor regression and cognitive impairment. Imaging shows abnormally-shaped vertebral bodies, small, flat epiphyses, and widened metaphyses, as well as cerebral and cerebellar atrophy and progressive axonal-hypomyelinating neuropathy.	http://identifiers.org/omim/300660|MESH:C567065|MESH:C536671|ORPHA:83629|ORPHA:168448|http://identifiers.org/omim/300232|UMLS:C1846148
MONDO:0009297	familial renal glucosuria	biolink:Disease	mondo	DOID:9432|ICD9:271.4|MedDRA:10038457|SCTID:267430007|MESH:D006030|UMLS:C0017980|UMLS:C3245525|OMIM:233100|ICD10:E74.8|GARD:0007548|EFO:1001151|COHD:193170|Orphanet:69076	gard_rare|ordo_disease	Glys1|GLYS|renal glycosuria|glycosuria, renal|renal glucosuria; GLYS|familial renal glucosuria|renal glucosuria|SGLT2 deficiency|renal diabetes	http://purl.obolibrary.org/obo/MONDO_0009297	Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2).	DOID:9432|UMLS:C3245525|UMLS:C0017980|http://identifiers.org/omim/233100|ORPHA:69076|MESH:D006030|SNOMEDCT:267430007
HGNC:11654	TCOF1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11654		
HGNC:11653	TCN2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11653		
MONDO:0009296	glycoprotein storage disease	biolink:Disease	mondo	MESH:C565538|UMLS:C1856275|SCTID:7810004|UMLS:C0268220|OMIM:232900		glycoprotein storage disorder|glycoprotein storage disease	http://purl.obolibrary.org/obo/MONDO_0009296		UMLS:C0268220|UMLS:C1856275|SNOMEDCT:7810004|http://identifiers.org/omim/232900|MESH:C565538
MONDO:0010274	TGCT1	biolink:Disease	mondo	OMIM:300228|UMLS:C1846164|MESH:C564559		TGCT1|testicular germ cell tumor 1; TGCT1|testicular germ cell tumor 1	http://purl.obolibrary.org/obo/MONDO_0010274		MESH:C564559|UMLS:C1846164|http://identifiers.org/omim/300228
MONDO:0010277	syndromic X-linked intellectual disability Shashi type	biolink:Disease	mondo	Orphanet:85286|SCTID:718900002|OMIM:300238|GARD:0004119|ICD10:Q87.8|UMLS:C4305085|UMLS:C1846145|MESH:C537135|DOID:0060826	ordo_malformation_syndrome	intellectual disability X-linked syndromic 11|MRXS11|mental retardation, X-linked, syndromic 11|mental retardation, X-linked, syndromic 11, Shashi type|mental retardation, X-linked, Shashi type|Shashi X-linked mental retardation syndrome|mental retardation X-linked Shashi type|intellectual disability, X-linked, Shashi type|X-linked intellectual disability, Shashi type|X-linked intellectual disability Shashi type|mental retardation X-linked syndromic 11|intellectual disability, X-linked, syndromic 11|intellectual disability, X-linked, syndromic 11, Shashi type|mental retardation, X-linked, syndromic 11; MRXS11|Shashi X-linked intellectual disability syndrome|syndromic X-linked intellectual disability type 11|X-linked mental retardation Shashi type|SMRXS|intellectual disability, X-linked, syndromic 11; MRXS11|intellectual disability X-linked Shashi type	http://purl.obolibrary.org/obo/MONDO_0010277	X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.	http://identifiers.org/omim/300238|UMLS:C1846145|UMLS:C4305085|MESH:C537135|ORPHA:85286|SNOMEDCT:718900002|DOID:0060826
MONDO:0009295	glycogen storage disease VII	biolink:Disease	mondo	ICD10:E74.0|GARD:0005686|ICD10:E74.09|Orphanet:371|NCIT:C118437|MedDRA:10053241|MESH:D006014|UMLS:C0017926|SCTID:89597008|OMIM:232800|DOID:11721	ordo_disease	glycogen storage disease caused by mutation in PFKM|glycogen storage disease due to muscle phosphofructokinase deficiency|glycogenosis due to muscle phosphofructokinase deficiency|Tarui disease|muscle phosphofructokinase deficiency|glycogen storage disease type VII|GSDVII|GSD type 7|GSD7|Pfkm deficiency|glycogen storage disease VII; GSD7|GSD type VII|phosphofructokinase deficiency|GSD 7|phosphofructokinase myopathy|glycogen storage disease type 7|glycogen storage disease 7|GSD due to muscle phosphofructokinase deficiency|PFKM glycogen storage disease|glycogen storage disease VII|glycogen storage disease, type VII|glycogenosis type 7|glycogenosis type VII	http://purl.obolibrary.org/obo/MONDO_0009295	Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.	DOID:11721|UMLS:C0017926|SNOMEDCT:89597008|NCIT:C118437|MEDDRA:10053241|ORPHA:371|http://identifiers.org/omim/232800|MESH:D006014
MONDO:0009294	glycogen storage disease VI	biolink:Disease	mondo	MESH:D006013|UMLS:C0017925|NCIT:C126875|DOID:2754|MedDRA:10053240|OMIM:232700|ICD10:E74.09|ICD10:E74.0|GARD:0006529|Orphanet:369|SCTID:29291001	ordo_disease	GSD type 6|glycogenosis type VI|liver glycogen phosphorylase deficiency|PYGL glycogen storage disease|GSD due to liver glycogen phosphorylase deficiency|glycogen storage disease type 6|phosphorylase deficiency glycogen-storage disease of liver|glycogenosis type 6|glycogen storage disease due to liver glycogen phosphorylase deficiency|GSD type VI|hers disease|hepatic glycogen phosphorylase deficiency|glycogen storage disease caused by mutation in PYGL|hepatic phosphorylase deficiency|hers' disease|glycogenosis due to liver glycogen phosphorylase deficiency|glycogen storage disease VI; GSD6|GSD6|GSD 6|glycogen storage disease 6|hepatophosphorylase deficiency glycogenosis|glycogen storage disease VI|glycogen storage disease type VI	http://purl.obolibrary.org/obo/MONDO_0009294	Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease.	SNOMEDCT:29291001|UMLS:C0017925|MEDDRA:10053240|ORPHA:369|http://identifiers.org/omim/232700|MESH:D006013|NCIT:C126875|DOID:2754
MONDO:0010276	radioulnar synostosis, radial ray abnormalities, and severe malformations in the male	biolink:Disease	mondo	MESH:C564557|UMLS:C1846147|OMIM:300233		radioulnar synostosis, radial RAY abnormalities, and severe malformations in the MALE	http://purl.obolibrary.org/obo/MONDO_0010276		MESH:C564557|UMLS:C1846147|http://identifiers.org/omim/300233
MONDO:0009293	glycogen storage disease V	biolink:Disease	mondo	ICD10:E74.04|MESH:D006012|DOID:2746|OMIM:232600|UMLS:C0017924|ICD10:E74.0|Orphanet:368|SCTID:55912009|GARD:0006528|NCIT:C84738|MedDRA:10018462	ordo_disease	glycogenosis due to muscle glycogen phosphorylase deficiency|GSD type V|GSD type 5|PYGM glycogen storage disease|McArdle disease|Mcardle disease|GSD due to muscle glycogen phosphorylase deficiency|glycogen storage disease type 5|glycogenosis type V|glycogen storage disease, type V|muscle glycogen phosphorylase deficiency|glycogenosis type 5|glycogen storage disease caused by mutation in PYGM|myophosphorylase deficiency|glycogen storage disease V; GSD5|glycogen storage disease type V|McArdle's disease|GSD 5|glycogen storage disease due to muscle glycogen phosphorylase deficiency|GSD5|glycogen storage disease 5|glycogen storage disease V|Pygm deficiency|McArdle type glycogen storage disease	http://purl.obolibrary.org/obo/MONDO_0009293	Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance.	NCIT:C84738|UMLS:C0017924|MESH:C537276|ORPHA:368|UMLS:C2936916|http://identifiers.org/omim/232600|MEDDRA:10018462|MESH:D006012|SNOMEDCT:55912009|DOID:2746
MONDO:0010279	terminal osseous dysplasia-pigmentary defects syndrome	biolink:Disease	mondo	UMLS:C1846129|OMIM:300244|Orphanet:88630|MESH:C564554|ICD10:Q87.2	ordo_malformation_syndrome	terminal osseous dysplasia|terminal osseous dysplasia and pigmentary defects|terminal osseous dysplasia; TOD|TOD|osseous dysplasia, digital, with Facial pigmentary defects and multiple frenula|Odpd|Odpf syndrome	http://purl.obolibrary.org/obo/MONDO_0010279	Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.	http://identifiers.org/omim/300244|UMLS:C1846129|ORPHA:88630|MESH:C564554
MONDO:0009292	glycogen storage disease due to glycogen branching enzyme deficiency	biolink:Disease	mondo	UMLS:C0017923|ICD10:E74.09|NCIT:C84737|ICD10:E74.0|Orphanet:367|DOID:2750|UMLS:CN204783|OMIM:232500|ICD9:277.6|MedDRA:10053249|SCTID:124267007|GARD:0002520	ordo_disease	GSD type 4|GSD IV, neuromuscular form, adult, with isolated myopathy|glycogen storage disease, type IV|brancher deficiency glycogenosis|Gbe1 deficiency|cirrhosis, familial, with deposition of abnormal glycogen|GSD IV, neuromuscular form, childhood|glycogenosis 4|glycogenosis type IV|glycogenosis due to glycogen branching enzyme deficiency|glycogenosis type 4|glycogen storage disease type 4|glycogen storage disease IV|amylopectinosis|Andersen's disease|GSD IV|GSD IV, neuromuscular form, fatal perinatal|branching-transferase deficiency glycogenosis|GSD 4|GBE1 glycogen storage disease|GSD type IV|glycogen storage disease 4|GSD IV, neuromuscular form, congenital|GSD due to glycogen branching enzyme deficiency|brancher deficiency|GSD IV, classic hepatic|glycogen storage disease type IV|glycogen branching enzyme deficiency|Andersen disease|GSD4|deficiency of 1,4-alpha-glucan branching enzyme|glycogen storage disease IV; GSD4|glycogen storage disease caused by mutation in GBE1|GSD IV, nonprogressive hepatic	http://purl.obolibrary.org/obo/MONDO_0009292	Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases.	UMLS:CN204783|UMLS:C1563715|NCIT:C84737|UMLS:C0017923|MEDDRA:10053249|SNOMEDCT:124267007|http://identifiers.org/omim/232500|ORPHA:367|DOID:2750
MONDO:0010278	Christianson syndrome	biolink:Disease	mondo	DOID:0060825|Orphanet:85278|OMIM:300243|GARD:0010572|SCTID:702354007|UMLS:C2678194|MESH:C567484|ICD9:759.89|ICD10:Q87.8	gard_rare|ordo_malformation_syndrome	intellectual disability, X-linked syndromic, Christianson type|MRXSCH|mental retardation, microcephaly, epilepsy, and ataxia syndrome|MRXS Christianson|intellectual disability, X-linked, syndromic, Christianson type|X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome|Angelman-like syndrome x-linked|intellectual disability, X-linked, syndromic, Christianson type; MRXSCH|intellectual disability, microcephaly, epilepsy, and ataxia syndrome|Angelman-like syndrome, X-linked|X-linked Angelman-like syndrome|mental retardation, X-linked, syndromic, Christianson type|X-linked intellectual disability, South African type|intellectual disability x-linked syndromic Christianson type|intellectual disability microcephaly epilepsy and ataxia syndrome|mental retardation, X-linked syndromic, Christianson type|mental retardation, X-linked, syndromic, Christianson type; MRXSCH|X-linked intellectual disability - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy	http://purl.obolibrary.org/obo/MONDO_0010278	Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.	UMLS:C1846130|http://identifiers.org/omim/300243|UMLS:C2678194|MESH:C567484|ORPHA:85278|MESH:C537450|SNOMEDCT:702354007|DOID:0060825
MONDO:0009291	glycogen storage disease III	biolink:Disease	mondo	ICD10:E74.0|DOID:2748|MESH:D006010|ICD10:E74.03|OMIM:232400|GARD:0009442|MedDRA:10053250|Orphanet:366|UMLS:C0017922|SCTID:66937008|NCIT:C84736|UMLS:CN204781	ordo_disease	GSD type 3|glycogenosis type III|glycogen storage disease IIID|glycogen storage disease caused by mutation in AGL|glycogen storage disease IIIC|glycogen storage disease due to glycogen debranching enzyme deficiency|Agl deficiency|amylo 1,6 glucosidase deficiency|glycogen storage disease type III|glycogen storage disease IIIb|glycogen storage disease, type III|glycogen storage disease IIIa|GDE deficiency|Gde deficiency|glycogen storage disease III; GSD3|glycogenosis due to glycogen debranching enzyme deficiency|Cori disease|glycogenosis type 3|glycogen storage disease III|glycogen storage disease type 3|Cori-Forbes disease|deficiency of dextrin|AGL glycogen storage disease|glycogen storage disease 3|GSD due to glycogen debranching enzyme deficiency|glycogen Debrancher deficiency|GSDIII|limit dextrinosis|amylo-1,6-glucosidase deficiency|Forbes disease|deficiency of debranching enzyme|GSD3	http://purl.obolibrary.org/obo/MONDO_0009291	Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.	NCIT:C84736|UMLS:CN204781|UMLS:C0017922|SNOMEDCT:66937008|MEDDRA:10053250|http://identifiers.org/omim/232400|ORPHA:366|UMLS:C2936915|MESH:D006010|DOID:2748
MONDO:0009290	glycogen storage disease II	biolink:Disease	mondo	NCIT:C84734|UMLS:C0017921|GARD:0002503|SCTID:274864009|MedDRA:10053185|DOID:2752|Orphanet:365|UMLS:C1968741|GARD:0005714|ICD10:E74.02|OMIM:232300|ICD10:E74.0	gard_rare|clingen|ordo_disease	glycogenosis, generalized, Cardiac form|deficiency of alpha-glucosidase|glycogen storage disease caused by mutation in GAA|deficiency of glucoamylase|glucosidase acid-1,4-alpha deficiency|GSD2|Pompe disease|GAA deficiency|Cardiomegalia Glycogenica diffusa|lysosomal alpha-1,4-glucosidase deficiency|glycogen storage disease due to acid maltase deficiency|generalized glycogenosis|glycogenosis type 2|deficiency of maltase|GSD type II|glycogenosis due to acid maltase deficiency|Alpha-1,4-glucosidase deficiency|glycogen storage disease type 2|GSD II|Alpha-1,4-glucosidase acid deficiency|GSD 2|GAA glycogen storage disease|glycogen storage disease 2|glycogen storage disease type II|Aglucosidase alfa|glycogen storage disease II|glycogen storage disease II; GSD2|glycogenosis, type 2|deficiency of lysosomal alpha-glucosidase|GSD type 2|Pompe's disease|glycogenosis type II|glycogen storage disease, type II|acid maltase deficiency|acid maltase deficiency disease|GSD due to acid maltase deficiency	http://purl.obolibrary.org/obo/MONDO_0009290	Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal.	UMLS:C0017921|MEDDRA:10053185|http://identifiers.org/omim/232300|ORPHA:365|MESH:D006009|DOID:2752|SNOMEDCT:274864009|UMLS:C1968741|NCIT:C84734
MONDO:0010271	X-linked myotubular myopathy-abnormal genitalia syndrome	biolink:Disease	mondo	Orphanet:456328|OMIM:300219|MESH:C564561|UMLS:C1846169	ordo_disease	myotubular myopathy with abnormal genital development|Xq28 contiguous gene deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0010271	X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.	MESH:C564561|ORPHA:456328|http://identifiers.org/omim/300219|UMLS:C1846169
MONDO:0010270	syndromic X-linked intellectual disability 7	biolink:Disease	mondo	MESH:C537449|ICD10:Q87.8|GARD:0009156|Orphanet:85274|UMLS:C4304916|DOID:0060808|SCTID:719160009|OMIM:300218|UMLS:C1846170	ordo_malformation_syndrome	MRXS7|intellectual disability, X-linked syndromic 7|mental retardation, X-linked syndromic 7|Ahmad X-linked mental retardation syndrome|Ahmad X-linked intellectual disability syndrome|intellectual disability, X-linked, syndromic 7; MRXS7|X-linked intellectual disability, Ahmad type|intellectual disability, X-linked, syndromic 7|mental retardation X-linked syndromic 7|intellectual disability X-linked syndromic 7|mental retardation, obesity, hypogonadism, and tapering fingers|syndromic X-linked intellectual disability type 7|intellectual disability, obesity, hypogonadism, and tapering fingers|mental retardation, X-linked, syndromic 7|mental retardation, X-linked, syndromic 7; MRXS7	http://purl.obolibrary.org/obo/MONDO_0010270	Syndromic X-linked intellectual disability 7, also called MRXS7, is characterized by X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers.	SNOMEDCT:719160009|ORPHA:85274|MESH:C537449|UMLS:C4304916|DOID:0060808|http://identifiers.org/omim/300218|UMLS:C1846170
MONDO:0010273	lymphoma, Hodgkin, X-linked pseudoautosomal	biolink:Disease	mondo	OMIM:300221|MESH:C538326|GARD:0009899		lymphoma, Hodgkin, X-linked pseudoautosomal|Hodgkin disease, X-linked Pseudoautosomal	http://purl.obolibrary.org/obo/MONDO_0010273		MESH:C538326|http://identifiers.org/omim/300221
MONDO:0010272	obsolete syndromic X-linked intellectual disability type 10	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0010272		
GO:0002089	lens morphogenesis in camera-type eye	biolink:OntologyClass	mondo			lens morphogenesis in camera-style eye|lens morphogenesis	http://purl.obolibrary.org/obo/GO_0002089	The process in which the anatomical structures of the lens are generated and organized. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus.	
GO:0014070	response to organic cyclic compound	biolink:OntologyClass	mondo			response to organic cyclic substance	http://purl.obolibrary.org/obo/GO_0014070	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic cyclic compound stimulus.	
GO:0002087	regulation of respiratory gaseous exchange by nervous system process	biolink:OntologyClass	mondo			neurological control of breathing|regulation of respiratory gaseous exchange by neurological system process	http://purl.obolibrary.org/obo/GO_0002087	A process carried out by the nervous system that is required for the proper control of respiratory gaseous exchange. This process occurs in the respiratory center of the brain in vertebrates.	
MONDO:0009269	geleophysic dysplasia 1	biolink:Disease	mondo	DOID:0111725|UMLS:C3278147|OMIM:231050		GPHYSD1|ADAMTSL2 geleophysic dysplasia|Geleophysic dysplasia type 1|geleophysic dysplasia caused by mutation in ADAMTSL2|GELEOPHYSIC dysplasia 1; GPHYSD1|geleophysic dysplasia 1	http://purl.obolibrary.org/obo/MONDO_0009269	Any geleophysic dysplasia in which the cause of the disease is a mutation in the ADAMTSL2 gene.	UMLS:C3278147|DOID:0111725|http://identifiers.org/omim/231050
GO:0002088	lens development in camera-type eye	biolink:OntologyClass	mondo			lens development in camera-style eye|lens development	http://purl.obolibrary.org/obo/GO_0002088	The process whose specific outcome is the progression of the lens over time, from its formation to the mature structure. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus.	
MONDO:0009268	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	biolink:Disease	mondo	OMIM:231005|GARD:0002445|UMLS:C1856476|Orphanet:2072|GARD:0012504|UMLS:C2931585|ICD10:E75.2	ordo_clinical_subtype|gard_rare	pseudo Gaucher disease|Gaucher-like disease|Gaucher disease, type 3C|cardiovascular Gaucher disease|Gaucher disease type 3C|Gaucher disease - ophthalmoplegia - cardiovascular calcification|Gaucher disease, type IIIC	http://purl.obolibrary.org/obo/MONDO_0009268	Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.	UMLS:C2931585|ORPHA:2072|http://identifiers.org/omim/231005|UMLS:C1856476
MONDO:0009267	Gaucher disease type III	biolink:Disease	mondo	OMIM:231000|ICD10:E75.2|Orphanet:77261|GARD:0002443|DOID:0110959|SCTID:5963005	ordo_clinical_subtype	Gaucher disease, chronic neuronopathic type|GD III|Gaucher disease, type 3|Gaucher's disease type III|Gaucher disease, type 3B|Gaucher disease, Norrbottnian type|Gaucher disease, type 3A|Gaucher disease, juvenile and adult, cerebral|Gaucher disease, Subacute neuronopathic type|Gaucher disease type 3|Gaucher disease, subacute neuronopathic type|Gd 3|Gaucher disease, type III|cerebral juvenile and adult form of Gaucher disease|chronic neuronopathic Gaucher disease	http://purl.obolibrary.org/obo/MONDO_0009267	Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1.	SNOMEDCT:5963005|DOID:0110959|ORPHA:77261|UMLS:C0268251|http://identifiers.org/omim/231000
GO:0002082	regulation of oxidative phosphorylation	biolink:OntologyClass	mondo			OXPHOS	http://purl.obolibrary.org/obo/GO_0002082	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis.	
MONDO:0009266	Gaucher disease type II	biolink:Disease	mondo	ICD10:E75.2|SCTID:12246008|GARD:0002442|OMIM:230900|DOID:0110958|Orphanet:77260	ordo_clinical_subtype	GD II|Gaucher disease, infantile cerebral|Gaucher's disease type II|Gd 2|Gaucher disease, acute neuronopathic type|Gaucher disease type 2|infantile cerebral Gaucher disease|Gaucher disease, type 2|Gaucher disease, type II|acute neuronopathic Gaucher disease	http://purl.obolibrary.org/obo/MONDO_0009266	Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.	http://identifiers.org/omim/230900|DOID:0110958|ORPHA:77260|UMLS:C0268250|SNOMEDCT:12246008
MONDO:0009265	Gaucher disease type I	biolink:Disease	mondo	Orphanet:77259|GARD:0002441|OMIM:230800|DOID:0110957|ICD10:E75.2	ordo_clinical_subtype	Gaucher's disease type I|acid Beta-glucosidase deficiency|Gaucher disease type 1|Gaucher disease, type I|glucocerebrosidase deficiency|Gd 1|non-cerebral juvenile Gaucher disease|Gba deficiency|Gaucher disease, type 1|GD I|Gaucher disease, noncerebral juvenile	http://purl.obolibrary.org/obo/MONDO_0009265	Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia.	http://identifiers.org/omim/230800|UMLS:C1961835|DOID:0110957|ORPHA:77259
MONDO:0010264	X-linked adrenal hypoplasia congenita	biolink:Disease	mondo	OMIM:300200|UMLS:C0342482|SCTID:93235007|DOID:0080156|Orphanet:95702|GARD:0000555|NCIT:C123725|ICD10:E27.1	ordo_disease	adrenal insufficiency, progressive, and hypogonadotropic hypogonadism|AHC with HHG|adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism|cytomegalic adrenocortical hypoplasia|cytomegalic congenital adrenal hypoplasia|X-linked congenital adrenal hypoplasia|AHC with isolated gonadotropin deficiency|adrenal hypoplasia, congenital; AHC|X-linked AHC|mineralocorticoid deficiency, isolated|AHC|Addison disease, X-linked|adrenal hypoplasia congenita|congenital adrenal hypoplasia|adrenal hypoplasia, congenital|adrenal hypoplasia, congenital, with precocious puberty	http://purl.obolibrary.org/obo/MONDO_0010264	A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism.	http://identifiers.org/omim/300200|NCIT:C123725|SNOMEDCT:93235007|DOID:0080156|UMLS:C0342482|ORPHA:95702
MONDO:0009264	gastroschisis	biolink:Disease	mondo	EFO:1000949|NCIT:C84725|UMLS:C0265706|DOID:11044|MESH:D020139|ICD9:756.73|COHD:4218764|GARD:0008661|Orphanet:2368|OMIM:230750|MedDRA:10018046|ICD10:Q79.3|SCTID:72951007	ordo_morphological_anomaly|gard_rare	abdominal wall defects|gastroschisis|eventration|congenital fissure of the abdominal cavity|laparoschisis	http://purl.obolibrary.org/obo/MONDO_0009264	Gastroschisis is marked by viscera protruding, without a covering sac, from the fetal abdomen on the right lateral base of the umbilicus. It is due to defective embryo growth and other malformations are only exceptionally associated.	http://identifiers.org/omim/230750|DOID:11044|MESH:D020139|NCIT:C84725|ORPHA:2368|MEDDRA:10018046|SNOMEDCT:72951007|UMLS:C0265706
HGNC:11621	HNF1A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11621		
MONDO:0010263	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	biolink:Disease	mondo	Orphanet:86818|ICD10:Q87.8|OMIM:300194|MESH:C564570|UMLS:C1846242|SCTID:720982007	ordo_disease	Alport syndrome, intellectual disability, midface hypoplasia, and elliptocytosis|Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis|ATS-MR|chromosome Xq22.3 telomeric deletion syndrome|AMME complex|AMME syndrome|Ats-Mr	http://purl.obolibrary.org/obo/MONDO_0010263		UMLS:C1846242|SNOMEDCT:720982007|ORPHA:86818|MESH:C564570|http://identifiers.org/omim/300194
MONDO:0009263	gapo syndrome	biolink:Disease	mondo	OMIM:230740|SCTID:721843003|GARD:0000400|Orphanet:2067|ICD10:Q87.8	ordo_malformation_syndrome|gard_rare	Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome|Growth retardation, alopecia, pseudoanodontia, and optic atrophy|Growth retardation, alopecia, pseudoanodontia and optic atrophy|gapo syndrome	http://purl.obolibrary.org/obo/MONDO_0009263	GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations	http://identifiers.org/omim/230740|SNOMEDCT:721843003|ORPHA:2067|UMLS:C0406723
MONDO:0009262	GM1 gangliosidosis type 3	biolink:Disease	mondo	GARD:0002431|OMIM:230650|SCTID:238027003|DOID:0080489|Orphanet:79257|ICD10:E75.1	ordo_clinical_subtype|gard_rare	gangliosidosis, generalized GM1, chronic type|gangliosidosis, generalized GM1, adult type|GM1-gangliosidosis, type III|Beta-galactosidase deficiency type 3|gangliosidosis, generalized GM1, type 3|adult-onset GM1 gangliosidosis|adult GM1 gangliosidosis|GM1-gangliosidosis, type 3|gangliosidosis GM1 type 3|gangliosidosis generalized GM1 chronic type	http://purl.obolibrary.org/obo/MONDO_0009262	GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.	http://identifiers.org/omim/230650|ORPHA:79257|SNOMEDCT:238027003|DOID:0080489
MONDO:0010266	intellectual disability, X-linked 58	biolink:Disease	mondo	MESH:C564566|OMIM:300210|UMLS:C1846174		intellectual disability, X-linked type 58|intellectual disability, X-linked 58|non-syndromic X-linked intellectual disability caused by mutation in TSPAN7|intellectual disability, X-linked 58; MRX58|mental retardation, X-linked 58|TSPAN7 non-syndromic X-linked intellectual disability|MRX58|mental retardation, X-linked type 58|mental retardation, X-linked 58; MRX58	http://purl.obolibrary.org/obo/MONDO_0010266	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the TSPAN7 gene.	UMLS:C1846174|http://identifiers.org/omim/300210|MESH:C564566
MONDO:0009261	GM1 gangliosidosis type 2	biolink:Disease	mondo	OMIM:230600|Orphanet:79256|SCTID:18756002|DOID:0080501|GARD:0010126|ICD10:E75.1	gard_rare|ordo_clinical_subtype	juvenile GM1 gangliosidosis|gangliosidosis, generalized GM1, juvenile type|GM1-gangliosidosis, type II|gangliosidosis generalized GM1 type 2|gangliosidosis generalized GM1 juvenile type|gangliosidosis, generalized GM1, type 2|late-infantile GM1 gangliosidosis|GM1-gangliosidosis, type 2|gangliosidosis, generalized GM1, late-infantile type	http://purl.obolibrary.org/obo/MONDO_0009261	GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age.	http://identifiers.org/omim/230600|SNOMEDCT:18756002|DOID:0080501|ORPHA:79256
MONDO:0010265	Simpson-Golabi-Behmel syndrome type 2	biolink:Disease	mondo	Orphanet:79022|MESH:C564567|ICD10:Q87.3|DOID:0080342|OMIM:300209|UMLS:C1846175	ordo_malformation_syndrome	OFD1 Simpson-Golabi-Behmel syndrome|SGBS2|Simpson-Golabi-Behmel syndrome caused by mutation in OFD1|Sgbs2|lethal variant of Simpson-Golabi-Behmel syndrome|Simpson-Golabi-Behmel syndrome, type 2|Simpson-Golabi-Behmel syndrome, type 2; SGBS2	http://purl.obolibrary.org/obo/MONDO_0010265	Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported.	http://identifiers.org/omim/300209|UMLS:C1846175|DOID:0080342|ORPHA:79022|MESH:C564567
MONDO:0010268	X-linked lissencephaly with abnormal genitalia	biolink:Disease	mondo	OMIM:300215|SCTID:717632002|GARD:0012491|ICD10:Q04.3|MESH:C564563|Orphanet:452	gard_rare|ordo_malformation_syndrome	X-linked lissencephaly-agenesis of the corpus callosum-genital anomalies syndrome|X-linked lissencephaly with ambiguous genitalia|XLAG syndrome|lissencephaly, X-linked, with ambiguous genitalia|X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome|hydranencephaly and abnormal genitalia|lissencephaly, X-linked 2|X-linked lissencephaly - agenesis of the corpus callosum - genital anomalies|hydranencephaly with abnormal genitalia|lissencephaly, X-linked, 2; LISX2|LISX2|lissencephaly, X-linked, 2|Xlisg|XLAG (X-linked lissencephaly with abnormal genitalia) syndrome|lissencephaly, X-linked, type 2	http://purl.obolibrary.org/obo/MONDO_0010268	X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. XLAG differs considerably from classical lissencephaly, as the resulting cortical thickness is only 6-7 mm in XLAG, rather than 15-20 mm seen in classical lissencephaly due to mutations of the PAFAH1B1 or DCX genes. In 2002, mutations in the X-linked aristaless-related homeobox gene (ARX ; Xp21.3) were identified in individuals with XLAG and in some of their female relatives. Mouse Arx and human ARX are highly expressed in both dorsal and ventral telencephalon, including the neocortical ventricular zone and germinal zone of the ganglionic eminence, with less intense signals in the subventricular zone, cortical plate, hippocampus, basal ganglia and ventral thalamus. Arx-deficient mice showed deficient tangential migration and abnormal differentiation of GABAergic interneurons in the ganglionic eminence and neocortex, as well as abnormal testicular differentiation. These characteristics include some of the clinical features of XLAG in humans. The ARX mutations in XLAG patients were predominantly premature termination mutations (large deletions, frameshift, nonsense mutations, splice site mutations) while the missense mutations were less common and located essentially in the homeobox domain. Patients carrying nonconservative missense mutations within the homeobox, showed less severe XLAG, while conservative substitution in the homeodomain caused Proud syndrome (ACC with abnormal genitalia). A non conservative missense mutation near the C-terminal aristaless domain caused unusually severe XLAG with microcephaly and mild cerebellar hypoplasia. The ARX mutations are also associated with a spectrum of milder phenotypes, without macroscopic malformations of the brain, such as X-linked infantile spasms, a syndrome featuring mental retardation associated with distal dystonic movements (Partington syndrome), autistic features and nonsyndromicintellectual deficit.	SNOMEDCT:717632002|http://identifiers.org/omim/300215|ORPHA:452|MESH:C564563
MONDO:0009260	GM1 gangliosidosis type 1	biolink:Disease	mondo	GARD:0006479|OMIM:230500|SCTID:238026007|DOID:0080502|ICD10:E75.1|Orphanet:79255	gard_rare|ordo_clinical_subtype	infantile GM1 gangliosidosis|GLB deficiency type 1|gangliosidosis, generalized GM1, type I, with Cardiac involvement|gangliosidosis generalized GM1 type 1|GM1-gangliosidosis, type I, with Cardiac involvement|GM1-gangliosidosis, type I|Norman-Landing disease|Glb1 deficiency|gangliosidosis generalized GM1 infantile form|Beta galactosidase deficiency type 1|gangliosidosis, generalized GM1, type 1|GM1-gangliosidosis, type 1|Beta-galactosidase-1 deficiency|gangliosidosis, generalized GM1, infantile form	http://purl.obolibrary.org/obo/MONDO_0009260	GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations.	DOID:0080502|SNOMEDCT:238026007|http://identifiers.org/omim/230500|ORPHA:79255
MONDO:0010267	EMWX	biolink:Disease	mondo	MESH:C564565|OMIM:300211|UMLS:C1846173		episodic muscle weakness, X-linked; EMWX|EMWX|episodic muscle weakness, X-linked	http://purl.obolibrary.org/obo/MONDO_0010267		http://identifiers.org/omim/300211|UMLS:C1846173|MESH:C564565
HGNC:11623	TCF12	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11623		
MONDO:0010269	Coats disease	biolink:Disease	mondo	OMIM:300216|MedDRA:10015901|MESH:D058456|GARD:0006121|ICD10:H35.02|COHD:373756|Orphanet:190|ICD10:H35.0|UMLS:C0154832|DOID:7765|SCTID:360455002|ICD10:H35.07|ICD9:362.12	gard_rare|ordo_disease	retinal telangiectasis|Coats disease|Leber miliary aneurysm|Coats' disease|congenital retinal telangiectasia|Coats' syndrome|exudative retinopathy	http://purl.obolibrary.org/obo/MONDO_0010269	Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children.	SNOMEDCT:360455002|MEDDRA:10015901|MESH:D058456|UMLS:C0154832|http://identifiers.org/omim/300216|DOID:7765|ORPHA:190
GO:0014063	negative regulation of serotonin secretion	biolink:OntologyClass	mondo			down-regulation of serotonin secretion|positive regulation of serotonin release|down regulation of serotonin secretion|inhibition of serotonin secretion|downregulation of serotonin secretion	http://purl.obolibrary.org/obo/GO_0014063	Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of serotonin.	
GO:0014062	regulation of serotonin secretion	biolink:OntologyClass	mondo			regulation of serotonin release	http://purl.obolibrary.org/obo/GO_0014062	Any process that modulates the frequency, rate or extent of the regulated release of serotonin.	
MONDO:0010260	ACLLX	biolink:Disease	mondo	OMIM:300158|MESH:C564574|UMLS:C1846273		ACLLX|arthrogryposis, congenital, LOWER limb, X-linked; ACLLX|arthrogryposis, congenital, LOWER limb, X-linked|arthrogryposis, X-linked, type V, formerly|arthrogryposis, X-linked, type V	http://purl.obolibrary.org/obo/MONDO_0010260		MESH:C564574|http://identifiers.org/omim/300158|UMLS:C1846273
MONDO:0010262	hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses	biolink:Disease	mondo	UMLS:C1970936|OMIM:300184|MESH:C537159|GARD:0009601		hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses|hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response	http://purl.obolibrary.org/obo/MONDO_0010262		MESH:C537159|UMLS:C1970936|http://identifiers.org/omim/300184
MONDO:0010261	microphthalmia, syndromic 2	biolink:Disease	mondo	OMIM:300166		microphthalmia, syndromic 2; MCOPS2|microphthalmia, cataracts, radiculomegaly, and septal heart defects|Ofcd syndrome|Maa2, formerly|MCOPS2|Anop2, formerly|Maa2|microphthalmia, syndromic type 2|Anop2|microphthalmia, syndromic 2|oculofaciocardiodental syndrome	http://purl.obolibrary.org/obo/MONDO_0010261		http://identifiers.org/omim/300166
GO:0014064	positive regulation of serotonin secretion	biolink:OntologyClass	mondo			stimulation of serotonin secretion|upregulation of serotonin secretion|positive regulation of serotonin release|up-regulation of serotonin secretion|up regulation of serotonin secretion|activation of serotonin secretion	http://purl.obolibrary.org/obo/GO_0014064	Any process that activates or increases the frequency, rate or extent of the regulated release of serotonin.	
MONDO:0024893	toxocara canis infection (canine roundworms)	biolink:Disease	mondo	UMLS:C2930846|MESH:C531834		Toxocara catis infection (feline roundworms)|Human infection with the larvae of canine or feline roundworms	http://purl.obolibrary.org/obo/MONDO_0024893		UMLS:C2930846|MESH:C531834
OBO:mondo#has_onset	has onset	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/mondo#has_onset		
MONDO:0022236	colpocephaly	biolink:Disease	mondo	SCTID:253160006|GARD:0010008|MESH:C535973	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022236	Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken.	MESH:C535973|SNOMEDCT:253160006
MONDO:0010249	obsolete X-linked B cell surface antigen, mouse, homolog-like 1	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0010249		
MONDO:0009279	triple-A syndrome	biolink:Disease	mondo	OMIM:231550|Orphanet:869|NCIT:C131005|SCTID:45414006|EFO:1001997|DOID:0050602|MESH:C536008|GARD:0000457|ICD9:255.41|ICD10:E27.4	gard_rare|ordo_disease	AAA|adrenal insufficiency-achalasia-alacrima syndrome|4A syndrome|3A syndrome|achalasia-addisonianism-alacrima syndrome; AAAS|achalasia-alacrima syndrome|Addisonian-achalasia syndrome|2A syndrome|quaternary A syndrome|AAAS|glucocorticoid deficiency and achalasia|AAA syndrome|triple-a syndrome|Double A syndrome|achalasia alacrima syndrome|achalasia-addisonianism-alacrima syndrome|triple A syndrome|hypoadrenalism with achalasia|alacrima-achalasia-addisonianism|alacrima-achalasia-adrenal insufficiency neurologic disorder|achalasia addisonianism alacrimia syndrome|achalasia-addisonianism-alacrimia syndrome|Allgrove syndrome|ACTH-resistant adrenal insufficiency, achalasia and alacrima|Addisonian achalasia syndrome	http://purl.obolibrary.org/obo/MONDO_0009279	Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.	ORPHA:869|UMLS:C2931084|SNOMEDCT:45414006|UMLS:C0271742|MESH:C536008|MESH:C536009|NCIT:C131005|DOID:0050602|http://identifiers.org/omim/231550
MONDO:0024890	pineal parenchymal cell neoplasm	biolink:Disease	mondo	NCIT:C6965|ICDO:9360/1|UMLS:C0031941		pineal parenchymal neoplasm|pineal parenchymal cell neoplasm|Pineocytic neoplasm|neoplasm of pineal gland|neoplasm of the pineal gland|pineal gland tumor|pineal gland neoplasm|Pineocytic tumor|pineal parenchymal cell tumor|pineal parenchymal tumor|tumor of pineal gland|tumor of the pineal gland	http://purl.obolibrary.org/obo/MONDO_0024890	A neoplasm arising from the pineocyte, a cell with photosensory and neuroendocrine functions. It may be composed of mature elements or primitive, immature cells. The cellular composition determines the biological behavior and clinical outcome. Three types are recognized: pineoblastoma, pineocytoma, and pineal parenchymal tumor of intermediate differentiation (Adapted from WHO.)	UMLS:C0031941|NCIT:C6965
MONDO:0009278	hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	biolink:Disease	mondo	MESH:C535310|ICD10:E71.3|GARD:0009870|Orphanet:71212	gard_rare|ordo_disease	medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency|M/SCHAD|HADH deficiency|L-3-Alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency|had deficiency|M-SCHAD deficiency|SCHAD deficiency|hyperinsulinism due to SCHAD deficiency|3-alpha hydroxyacyl-CoA dehydrogenase deficiency|HADHSC deficiency|3-hydroxylacyl-CoA dehydrogenase deficiency|hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency|3-Alpha-hydroxyacyl-Coenzyme A dehydrogenase deficiency|3-hydroxyacyl-CoA dehydrogenase deficiency|3-hydroxyacyl-Coenzyme A dehydrogenase deficiency|hyperinsulinism due to glutamodehydrogenase deficiency|SCHAD deficiency, formerly|Hadh deficiency	http://purl.obolibrary.org/obo/MONDO_0009278	Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure.	MESH:C535310|ORPHA:71212
MONDO:0009277	glaucoma 3A	biolink:Disease	mondo	NCIT:C148260|DOID:11211|ICD9:743.21|OMIM:231300		simple buphthalmos|glaucoma 3, primary congenital, type a|Primary Congenital glaucoma 3A|buphthalmos|GLC3A|glaucoma 3, primary congenital, A|glaucoma, primary open angle, adult-onset|glaucoma, congenital|glaucoma, primary open angle, juvenile-onset|buphthalmos|glaucoma 3, primary congenital, A; GLC3A	http://purl.obolibrary.org/obo/MONDO_0009277	An autosomal recessive form of congenital glaucoma caused by mutation(s) in the CYP1B1 gene, encoding cytochrome P450 1B1.	DOID:11211|NCIT:C148260|http://identifiers.org/omim/231300
MONDO:0024892	soft tissue amyloid neoplasm	biolink:Disease	mondo	DOID:6755|UMLS:C0333572|ICD9:714.32|NCIT:C8323|UMLS:C1706802		amyloid neoplasm|amyloid tumor|soft tissue amyloid tumor|soft tissue amyloid neoplasm|amyloid tumor (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0024892	A soft tissue neoplasm composed of acellular amyloid material.	UMLS:C0333572|DOID:6755|NCIT:C8323|UMLS:C1706802
MONDO:0009276	Bernard-Soulier syndrome	biolink:Disease	mondo	ICD10:D69.1|UMLS:C0005129|Orphanet:274|MESH:D001606|DOID:2217|GARD:0002470|NCIT:C84595|MedDRA:10057473|OMIM:231200|SCTID:234478007	ordo_disease	Hemorrhagiparous thrombocytic dystrophy|giant platelet disease|Bernard-Soulier syndrome, type C|macrothrombocytopenia, familial Bernard-Soulier type|Bernard-Soulier syndrome, type B|bleeding disorder, Platelet-type, 1|Bernard-Soulier syndrome|Bernard-Soulier syndrome; BSS|Platelet glycoprotein 1b, deficiency of|giant platelet syndrome|deficiency of platelet glycoprotein 1b|thrombopathy, Bernard-Soulier|hemorrhagic dystrophic thrombocytopenia|Bernard Soulier syndrome|Platelet glycoprotein Ib deficiency|Von Willebrand Factor receptor deficiency|Bernard - Soulier thrombopathy|BSS|glycoprotein Ib, Platelet, deficiency of|Bernard-Soulier syndrome, type A1	http://purl.obolibrary.org/obo/MONDO_0009276	Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination.	DOID:2217|MEDDRA:10057473|UMLS:C0005129|NCIT:C84595|SNOMEDCT:234478007|MESH:D001606|ORPHA:274|http://identifiers.org/omim/231200
MONDO:0024891	non-infectious meningitis	biolink:Disease	mondo	UMLS:C0393442|SCTID:230155003		non-infective meningitis	http://purl.obolibrary.org/obo/MONDO_0024891		SNOMEDCT:230155003|UMLS:C0393442
MONDO:0009275	neonatal hemochromatosis	biolink:Disease	mondo	NCIT:C129980|MESH:C536394|ICD10:E83.1|OMIM:231100|Orphanet:446|GARD:0007172|UMLS:C0268059	ordo_disease|gard_rare	giant cell Hepatitis|neonatal hepatitis (formerly)|hemochromatosis, neonatal|alloimmune Hepatitis, congenital|idiopathic neonatal hemochromatosis|neonatal Hepatitis, formerly|neonatal Hepatitis|giant cell Hepatitis (formerly)|Nh|giant cell Hepatitis, formerly|hemochromatosis neonatal|Nhc	http://purl.obolibrary.org/obo/MONDO_0009275	Neonatal hemochromatosis is a disease in which too much iron builds up inthe body. In this form of hemochromatosis the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. There are a number of other forms of hemochromatosis. To learn more about these other forms click on the disease names listed below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4	UMLS:C0268059|ORPHA:446|http://identifiers.org/omim/231100|MESH:C536394|NCIT:C129980
MONDO:0010253	migraine, familial typical, susceptibility to, 2	biolink:Disease	mondo	OMIM:300125	predisposition	migraine, familial typical, susceptibility to, 2|migraine, familial typical, susceptibility to, type 2|migraine with or without aura, susceptibility to, 2|Mgr2|Mfts	http://purl.obolibrary.org/obo/MONDO_0010253		http://identifiers.org/omim/300125
MONDO:0010252	intellectual disability, X-linked, with panhypopituitarism	biolink:Disease	mondo	OMIM:300123		mental retardation, X-linked, with panhypopituitarism|intellectual disability, X-linked, with isolated Growth hormone deficiency|mental retardation, X-linked, with isolated Growth hormone deficiency|intellectual disability, X-linked, with panhypopituitarism	http://purl.obolibrary.org/obo/MONDO_0010252		http://identifiers.org/omim/300123
MONDO:0009274	ghosal hematodiaphyseal dysplasia	biolink:Disease	mondo	Orphanet:1802|OMIM:231095|SCTID:389214003|ICD9:756.59|GARD:0010297|MESH:C565551	gard_rare|ordo_malformation_syndrome	Ghosal hematodiaphyseal dysplasia syndrome|ghosal hematodiaphyseal dysplasia|diaphyseal dysplasia-anemia syndrome|GHOSAL hematodiaphyseal dysplasia; GHDD|GHDD|Ghosal syndrome	http://purl.obolibrary.org/obo/MONDO_0009274	Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.	SNOMEDCT:389214003|http://identifiers.org/omim/231095|ORPHA:1802|MESH:C565551
MONDO:0010255	diabetes mellitus, insulin-dependent, X-linked, susceptibility to	biolink:Disease	mondo	UMLS:C1848042|OMIM:300136	predisposition	diabetes mellitus, insulin-dependent, X-linked, susceptibility to|Iddmx|insulin-dependent diabetes mellitus, X-linked, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0010255		http://identifiers.org/omim/300136|UMLS:C1848042
MONDO:0009273	hydatidiform mole, recurrent, 1	biolink:Disease	mondo	UMLS:C3463897|OMIM:231090		hydatidiform Mole, complete|complete hydatidiform mole caused by mutation in NLRP7|NLRP7 complete hydatidiform mole|hydatidiform Mole, recurrent, type 1|hydatidiform mole, recurrent, 1|gestational trophoblastic disease|HYDM1|hydatidiform MOLE, recurrent, 1; HYDM1|hydatidiform mole	http://purl.obolibrary.org/obo/MONDO_0009273	Any complete hydatidiform mole in which the cause of the disease is a mutation in the NLRP7 gene.	UMLS:C3463897|http://identifiers.org/omim/231090
HGNC:11630	HNF1B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11630		
MONDO:0009272	German syndrome	biolink:Disease	mondo	Orphanet:2077|MESH:C562543|SCTID:733037000|ICD10:Q87.8|OMIM:231080|UMLS:C3887495	ordo_malformation_syndrome	German syndrome	http://purl.obolibrary.org/obo/MONDO_0009272	German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987.	MESH:C562543|ORPHA:2077|SNOMEDCT:733037000|http://identifiers.org/omim/231080|UMLS:C3887495
MONDO:0010254	obsolete hematopoietic stem cell kinetics, control of	biolink:Disease	mondo	OMIM:300129		hematopoietic stem cell kinetics, control of	http://purl.obolibrary.org/obo/MONDO_0010254		http://identifiers.org/omim/300129
MONDO:0009271	geroderma osteodysplastica	biolink:Disease	mondo	Orphanet:2078|ICD10:Q82.8|ICD9:759.89|DOID:0111266|MESH:C537799|GARD:0000413|OMIM:231070|UMLS:C0432255|SCTID:254116003	gard_rare|ordo_malformation_syndrome	GO|GERODERMA OSTEODYSPLASTICUM; GO|GERODERMA OSTEODYSPLASTICUM|Geroderma osteodysplasticum|Gerodermia osteodysplastica|Walt Disney dwarfism	http://purl.obolibrary.org/obo/MONDO_0009271	Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.	SNOMEDCT:254116003|ORPHA:2078|http://identifiers.org/omim/231070|MESH:C537799|DOID:0111266|UMLS:C0432255
MONDO:0010257	HPCX1	biolink:Disease	mondo	OMIM:300147|UMLS:C1846279		prostate cancer, hereditary, X-linked 1|prostate cancer, hereditary, X-linked 1; HPCX1|prostate cancer susceptibility, X-linked|HPCX1	http://purl.obolibrary.org/obo/MONDO_0010257		http://identifiers.org/omim/300147|UMLS:C1846279
MONDO:0010256	intellectual disability, X-linked 21	biolink:Disease	mondo	OMIM:300143		mental retardation, X-linked 21; MRX21|MRX21|mental retardation, X-linked type 21|non-syndromic X-linked intellectual disability caused by mutation in IL1RAPL1|intellectual disability, X-linked 21; MRX21|intellectual disability, X-linked type 21|intellectual disability, X-linked 21|mental retardation, X-linked 34|IL1RAPL1 non-syndromic X-linked intellectual disability|intellectual disability, X-linked 34|mental retardation, X-linked 21	http://purl.obolibrary.org/obo/MONDO_0010256	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the IL1RAPL1 gene.	http://identifiers.org/omim/300143
MONDO:0009270	genito-palato-cardiac syndrome	biolink:Disease	mondo	GARD:0002460|UMLS:C1856466|Orphanet:2075|ICD10:Q87.8|OMIM:231060|MESH:C537683	gard_rare|ordo_malformation_syndrome	genito palato cardiac syndrome|Gardner-Silengo-Wachtel syndrome|GENITOPALATOCARDIAC syndrome|Male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal Cardiac defect	http://purl.obolibrary.org/obo/MONDO_0009270	Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.	ORPHA:2075|http://identifiers.org/omim/231060|MESH:C537683|UMLS:C1856466
MONDO:0010259	retinitis pigmentosa 24	biolink:Disease	mondo	OMIM:300155|ICD10:H35.5|UMLS:C3887982|GARD:0010389|DOID:0110416	gard_rare	RP 24|retinitis pigmentosa 24; RP24|RP24|retinitis pigmentosa type 24|retinitis pigmentosa 24	http://purl.obolibrary.org/obo/MONDO_0010259	A retinitis pigmentosa that has material basis in variation in the chromosome region Xq26-q27.	http://identifiers.org/omim/300155|UMLS:C3887982|DOID:0110416
HGNC:11634	TCF4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11634		
MONDO:0010258	MEHMO syndrome	biolink:Disease	mondo	OMIM:300987|UMLS:C1846278|Orphanet:85282|UMLS:C4310813|SCTID:722037004|DOID:0060801|MESH:C537451|GARD:0009178|OMIM:300148|ICD10:Q87.8	ordo_malformation_syndrome	syndromic X-linked mental retardation 20|intellectual disability, X-linked, syndromic 20|mental retardation, X-linked, syndromic 25|MRXSBRK|syndromic X-linked intellectual disability 20|intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity; MEHMO|MRXS25|mental retardation, X-linked, syndromic, Borck type|MEHMO syndrome; MEHMO|intellectual disability, X-linked, syndromic, Borck type; MRXSBRK|mental retardation, X-linked, syndromic 20|MRXS20|MEHMO|mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity; MEHMO|X-linked MEHMO syndrome|intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity|mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity|intellectual disability, X-linked, syndromic, Borck type|syndromic X-linked mental retardation 25|intellectual disability, X-linked, syndromic 25|intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity|syndromic X-linked intellectual disability 25|X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome	http://purl.obolibrary.org/obo/MONDO_0010258	MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.	DOID:0060801|SNOMEDCT:722037004|UMLS:C2931496|http://identifiers.org/omim/300148|UMLS:C1846278|http://identifiers.org/omim/300987|UMLS:C4310813|MESH:C537451|ORPHA:85282
HGNC:11633	TCF3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11633		
MONDO:0034204	syndromic congenital sodium diarrhea	biolink:Disease	mondo	Orphanet:563708	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0034204		ORPHA:563708
GO:0038023	signaling receptor activity	biolink:OntologyClass	mondo			receptor activity|receptor activity involved in signal transduction|signalling receptor activity	http://purl.obolibrary.org/obo/GO_0038023	Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response.	
MONDO:0010251	MRX50	biolink:Disease	mondo	UMLS:C1848087|MESH:C564713|OMIM:300115		intellectual disability, X-linked 50; MRX50|MRX50|mental retardation, X-linked 50; MRX50|mental retardation, X-linked 50|intellectual disability, X-linked 50	http://purl.obolibrary.org/obo/MONDO_0010251		http://identifiers.org/omim/300115|MESH:C564713|UMLS:C1848087
MONDO:0010250	MRX49	biolink:Disease	mondo	OMIM:300114		mental retardation, X-linked 15|MRX49|intellectual disability, X-linked 49|mental retardation, X-linked 49|intellectual disability, X-linked 49; MRX49|mental retardation, X-linked 49; MRX49|intellectual disability, X-linked 15	http://purl.obolibrary.org/obo/MONDO_0010250		http://identifiers.org/omim/300114
GO:0038024	cargo receptor activity	biolink:OntologyClass	mondo			receptor activity|transport receptor activity|receptor activity involved in receptor-mediated endocytosis|endocytic receptor activity	http://purl.obolibrary.org/obo/GO_0038024	Binding specifically to a substance (cargo) to deliver it to a transport vesicle. Cargo receptors span a membrane (either the plasma membrane or a vesicle membrane), binding simultaneously to cargo molecules and coat adaptors, to efficiently recruit soluble proteins to nascent vesicles.	
NCBITaxon:65647	Ixodes holocyclus	organism taxon	mondo	GC_ID:1		paralysis tick	http://purl.obolibrary.org/obo/NCBITaxon_65647		
MONDO:0000832	obsolete myeloid neoplasm	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000832		
MONDO:0000831	thrombotic disease	biolink:Disease	mondo	NCIT:C26891|MESH:D013927|ICD9:453.9|SCTID:439127006|DOID:0060903		Thromboses|clot, blood|thrombus|thrombosis|blood clot|Clots, blood|blood Clots|thrombotic disorder	http://purl.obolibrary.org/obo/MONDO_0000831	The formation of a blood clot in the lumen of a vessel or heart chamber; causes include coagulation disorders and vascular endothelial injury.	SNOMEDCT:439127006|NCIT:C26891|MESH:D013927|DOID:0060903
MONDO:0000830	obsolete Waldenstroem's macroglobulinemia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000830		
HGNC:4329	GLRB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4329		
MONDO:0012814	diastasis recti and weakness of the linea alba	biolink:Disease	mondo	MESH:C567402|UMLS:C2677303|OMIM:612198		diastasis recti and weakness of the linea alba	http://purl.obolibrary.org/obo/MONDO_0012814		UMLS:C2677303|http://identifiers.org/omim/612198|MESH:C567402
MONDO:0012815	Coats plus syndrome	biolink:Disease	mondo	OMIMPS:612199|ICD10:H35.0|UMLS:CN282828|Orphanet:313838|SCTID:711482008|MESH:C567401|ICD9:348.89	ordo_disease	cerebroretinal microangiopathy with calcfications and cysts|cerebroretinal microangiopathy with calcifications and cysts|CRMCC|CRMCC	http://purl.obolibrary.org/obo/MONDO_0012815	Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.	ORPHA:313838|SNOMEDCT:711482008|MESH:C567401|UMLS:CN282828
MONDO:0012812	developmental and epileptic encephalopathy, 4	biolink:Disease	mondo	SCTID:768666006|NCIT:C162472|DOID:0080436|GARD:0012900|MESH:C567404|UMLS:C2677326|OMIM:612164	gard_rare	EIEE4|early infantile epileptic encephalopathy caused by mutation in STXBP1|epileptic encephalopathy, early infantile, type 4|STXBP1-related early-onset encephalopathy|epileptic encephalopathy, early infantile, 4|STXBP1 early infantile epileptic encephalopathy|early infantile epileptic encephalopathy 4|DEE4|epileptic encephalopathy, early infantile, 4; EIEE4	http://purl.obolibrary.org/obo/MONDO_0012812	Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. Other signs and symptoms mayinclude intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. EIEE4 is caused by changes (mutations) in the STXBP1 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For example, certain medications are often prescribed to help control seizures, although they are not always effective in all people with the condition.	UMLS:C2677326|http://identifiers.org/omim/612164|MESH:C567404|DOID:0080436|NCIT:C162472|SNOMEDCT:768666006
MONDO:0012813	retinitis pigmentosa 29	biolink:Disease	mondo	DOID:0110378|MESH:C567403|GARD:0010378|UMLS:C2677325|ICD10:H35.5|OMIM:612165	gard_rare	retinitis pigmentosa 29; RP29|retinitis pigmentosa type 29|RP29|RP 29|retinitis pigmentosa 29	http://purl.obolibrary.org/obo/MONDO_0012813	A retinitis pigmentosa that has material basis in variation in the chromosome region 4q32-q34.	UMLS:C2677325|http://identifiers.org/omim/612165|MESH:C567403|DOID:0110378
MONDO:0012818	maturity-onset diabetes of the young type 9	biolink:Disease	mondo	SCTID:609576002|MESH:C567393|UMLS:C2677132|OMIM:612225|GARD:0010663|DOID:0111107	gard_rare	maturity-onset diabetes of the young (disease) caused by mutation in PAX4|maturity-onset diabetes of the young, type 9|maturity-onset diabetes of the young, type 9; MODY9|MODY PAX4 related|MODY9|type 9 maturity-onset diabetes of the young|MODY type 9|diabetes mellitus MODY type 9|PAX4 maturity-onset diabetes of the young (disease)	http://purl.obolibrary.org/obo/MONDO_0012818	Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the PAX4 gene.	UMLS:C2677132|http://identifiers.org/omim/612225|MESH:C567393|DOID:0111107|SNOMEDCT:609576002
MONDO:0012819	diabetic ketoacidosis	biolink:Disease	mondo	ICD9:250.10|ICD9:250.1|MedDRA:10012671|EFO:1000897|COHD:443727|SCTID:420422005|DOID:1837|MESH:D016883|UMLS:C0011880|OMIM:612227		KPD|diabetes mellitus, ketosis-prone; KPD|ketosis-prone diabetes mellitus|diabetes mellitus, ketosis-prone	http://purl.obolibrary.org/obo/MONDO_0012819	The metabolic condition resulted from uncontrolled diabetes mellitus, in which the shift of acid-base status of the body toward the acid side because of loss of base or retention of acids other than carbonic acid is accompanied by the accumulation of ketone bodies in body tissues and fluids.	UMLS:C0011880|SNOMEDCT:420422005|DOID:1837|MESH:D016883|http://identifiers.org/omim/612227|NCIT:C50530
MONDO:0012816	atrial fibrillation, familial, 6	biolink:Disease	mondo	UMLS:C2677294|MESH:C567400|OMIM:612201		atrial fibrillation, familial, 6; ATFB6|familial atrial fibrillation caused by mutation in NPPA|atrial fibrillation, familial, type 6|NPPA familial atrial fibrillation|ATFB6|atrial fibrillation, familial, 6	http://purl.obolibrary.org/obo/MONDO_0012816	Any familial atrial fibrillation in which the cause of the disease is a mutation in the NPPA gene.	UMLS:C2677294|http://identifiers.org/omim/612201|MESH:C567400
MONDO:0012817	Ewing sarcoma	biolink:Disease	mondo	MedDRA:10015560|GARD:0006390|ICDO:9260/3|ONCOTREE:ES|ICD10:C40.3|ICD10:C40.2|MESH:D012512|ICD10:C40.1|Orphanet:319|ICD10:C41.4|OMIM:612219|ICD10:C41.3|UMLS:C0553580|ICD10:C41.2|DOID:3369|ICD10:C40.0|NCIT:C4817|EFO:0000174	ordo_disease	sarcoma, Ewing's|ES|ES|neuroepithelioma, peripheral|Ewing's tumor|Ewing sarcoma; ES|localized peripheral primitive neuroectodermal tumor|localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor|Ewing tumor|localized Ewing sarcoma|Ewing sarcoma|peripheral primitive neuroectodermal tumor|Ewing's sarcoma/peripheral primitive neuroectodermal tumor|Ewings sarcoma|localized Ewing's sarcoma|Ewings sarcoma-primitive neuroectodermal tumor|Ewing's sarcoma|Ewing's family localized tumor|localized Ewing's tumor|PNET of Thoracopulmonary region	http://purl.obolibrary.org/obo/MONDO_0012817	A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms.	MEDDRA:10015560|NCIT:C4817|http://identifiers.org/omim/612219|ORPHA:319|MESH:D012512|DOID:3369|UMLS:C0553580
HGNC:4331	GLS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4331		
HGNC:6996	MEF2C	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6996		
MONDO:0012821	CRCS5	biolink:Disease	mondo	OMIM:612230	predisposition	colorectal cancer, susceptibility to, 5; CRCS5|colorectal cancer, susceptibility to, on chromosome 10|colorectal cancer, susceptibility to, 5|CRCS5	http://purl.obolibrary.org/obo/MONDO_0012821		http://identifiers.org/omim/612230
HGNC:6998	MEFV	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6998		
HGNC:11603	TBX4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11603		
MONDO:0012822	CRCS6	biolink:Disease	mondo	OMIM:612231	predisposition	colorectal cancer, susceptibility to, 6; CRCS6|colorectal cancer, susceptibility to, 6|CRCS6|colorectal cancer, susceptibility to, on chromosome 8Q23	http://purl.obolibrary.org/obo/MONDO_0012822		http://identifiers.org/omim/612231
HGNC:11602	TBX3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11602		
MONDO:0012820	colorectal cancer, susceptibility to, 3	biolink:Disease	mondo	OMIM:612229	predisposition	colorectal cancer, susceptibility to, type 3|colorectal cancer caused by mutation in SMAD7|colorectal cancer, susceptibility to, on chromosome 18|CRCS3|colorectal cancer, susceptibility to, 3; CRCS3|susceptibility to colorectal cancer 3|SMAD7 colorectal cancer|colorectal cancer, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0012820	Any colorectal cancer in which the cause of the disease is a mutation in the SMAD7 gene.	http://identifiers.org/omim/612229
HGNC:11600	TBX22	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11600		
MONDO:0000825	obsolete hypomyelinating leukodystrophy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000825		
MONDO:0000824	congenital diarrhea	biolink:Disease	mondo	UMLS:CN232319|DC:0000503|DOID:0060774|OMIMPS:214700		diarrhea, congenital	http://purl.obolibrary.org/obo/MONDO_0000824		DOID:0060774|UMLS:CN232319
MONDO:0000823		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000823		
MONDO:0000822	obsolete lymphoproliferative syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000822		
HGNC:4336	GLUD2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4336		
HGNC:6990	MECP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6990		
MONDO:0000829	obsolete early-onset Parkinson disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000829		
HGNC:4335	GLUD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4335		
MONDO:0000828	juvenile-onset Parkinson disease	biolink:Disease	mondo	DOID:0060893		juvenile-onset Parkinson's disease	http://purl.obolibrary.org/obo/MONDO_0000828		DOID:0060893
MONDO:0000827	salmonellosis	biolink:Disease	mondo	MESH:D012480|SCTID:302231008|UMLS:CN205993|Orphanet:795|UMLS:C0036117|EFO:1001418|ICD10:A01.4|DOID:0060859|ICD10:A02.2|ICD10:A01.3|ICD10:A02.1|ICD9:003.0|ICD10:A01.2|ICD10:A01.1|ICD10:A01.0|ICD9:003.9|MedDRA:10039447|ICD10:A02.0|ICD10:A02.9|ICD10:A02.8|COHD:133685|ICD9:003.8	ordo_group_of_disorders	Salmonella infection|rare form of salmonellosis|infections, Salmonella	http://purl.obolibrary.org/obo/MONDO_0000827	Infections with bacteria of the genus salmonella.	MEDDRA:10039447|DOID:0060859|UMLS:CN205993|MESH:D012480|SNOMEDCT:302231008|UMLS:C0036117|ORPHA:795
UBERON:0006048	digit 1	biolink:AnatomicalEntity	mondo			dewclaw|digit I|autopod digit 1|limb digit 1	http://purl.obolibrary.org/obo/UBERON_0006048	A digit that is part of a digit 1 plus metapodial segment.	
MONDO:0000826	obsolete syndromic X-linked intellectual disability Cabezas type	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000826		
HGNC:6993	MEF2A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6993		
PO:0025099	embryo plant structure	biolink:OntologyClass	mondo	PO_GIT:339|PO_GIT:245		胚性植物構造 (Japanese, exact)|embryonic plant structure (exact)|estructura vegetal embri&#243nica (Spanish, exact)	http://purl.obolibrary.org/obo/PO_0025099	A plant structure (PO:0009011) that is part of an plant embryo (PO:0009009).	
MONDO:0012809	histiocytoma, Angiomatoid fibrous	biolink:Disease	mondo	NCIT:C6494|ONCOTREE:AFH|UMLS:C1266127|ICDO:8836/1|MESH:C563181|OMIM:612160|Orphanet:569164		angiomatoid malignant fibrous histiocytoma|histiocytoma, Angiomatoid fibrous|angiomatoid fibrous histiocytoma|AFH	http://purl.obolibrary.org/obo/MONDO_0012809	A low malignant potential soft tissue neoplasm of uncertain differentiation. It typically affects young patients, presenting as a slowly growing nodular or cystic tumor mass, most often in the subcutaneous tissues of the extremities. Occasionally, patients have systemic symptoms (anemia, fever, and weight loss). This tumor has a relatively good prognosis. A minority of patients develop local recurrences. Metastases are rare.	MESH:C563181|NCIT:C6494|http://identifiers.org/omim/612160|ORPHA:569164|UMLS:C1266127
MONDO:0000843		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000843		
MONDO:0000842		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000842		
MONDO:0000841	obsolete metaphyseal dysplasia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000841		
MONDO:0000840	dysbaric osteonecrosis	biolink:Disease	mondo	DOID:0080018|SCTID:431591000124102		caisson disease of bone|DON	http://purl.obolibrary.org/obo/MONDO_0000840	A form of avascular necrosis where there is death of a portion of the bone that is thought to be caused by nitrogen embolism.	SNOMEDCT:431591000124102|DOID:0080018
MONDO:0012803	diarrhea-vomiting due to trehalase deficiency	biolink:Disease	mondo	GARD:0010372|OMIM:612119|MESH:C562603|SCTID:84193000|UMLS:C0268187|ICD9:271.8|Orphanet:103909|ICD10:E74.3	ordo_disease	isolated trehalose intolerance|trehalase deficiency|trehalose intolerance	http://purl.obolibrary.org/obo/MONDO_0012803	This syndrome is characterised by diarrhoea and vomiting after ingestion of trehalose, a disaccharide found mainly in mushrooms.	ORPHA:103909|MESH:C562603|UMLS:C0268187|http://identifiers.org/omim/612119|SNOMEDCT:84193000
MONDO:0012804	hypertrophic cardiomyopathy 12	biolink:Disease	mondo	OMIM:612124|UMLS:C2677491|DOID:0110318		cardiomyopathy, familial hypertrophic, type 12|CMH12|cardiomyopathy, familial hypertrophic, 12|cardiomyopathy, familial hypertrophic, 12; CMH12|CSRP3 hypertrophic cardiomyopathy|cardiomyopathy familial hypertrophic 12|hypertrophic cardiomyopathy type 12|hypertrophic cardiomyopathy caused by mutation in CSRP3	http://purl.obolibrary.org/obo/MONDO_0012804	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene.	http://identifiers.org/omim/612124|UMLS:C2677491|DOID:0110318
MONDO:0012801	autism, susceptibility to, 15	biolink:Disease	mondo	OMIM:612100	predisposition	AUTS15|autism, susceptibility to, 15; AUTS15|autism, susceptibility to, type 15|susceptibility to autism 15|autism, susceptibility to, 15	http://purl.obolibrary.org/obo/MONDO_0012801		http://identifiers.org/omim/612100
HGNC:11605	TBX6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11605		
MONDO:0012802	oculoauricular syndrome	biolink:Disease	mondo	DOID:0060482|Orphanet:157962|ICD10:Q87.8|OMIM:612109|UMLS:C2677500|MESH:C567416	ordo_malformation_syndrome	OCACS|Schorderet-Munier-Franceschetti syndrome|oculoauricular syndrome|oculoauricular syndrome; OCACS|oculoauricular syndrome, Schorderet type|microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, Rod-cone dystrophy, and anomalies of the external Ear	http://purl.obolibrary.org/obo/MONDO_0012802	Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy), and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus, and lobule aplasia).	DOID:0060482|ORPHA:157962|UMLS:C2677500|http://identifiers.org/omim/612109|MESH:C567416
HGNC:11604	TBX5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11604		
MONDO:0012807	epidermolysis bullosa simplex with pyloric atresia	biolink:Disease	mondo	UMLS:C2677349|SCTID:716701004|MESH:C567408|OMIM:612138|Orphanet:158684|ICD10:Q81.0	ordo_disease	EBS with pyloric atresia|EBS-PA|epidermolysis bullosa simplex with pyloric atresia; EBSPA|epidermolysis bullosa simplex with pyloric atresia|EBSPA	http://purl.obolibrary.org/obo/MONDO_0012807	Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.	ORPHA:158684|UMLS:C2677349|http://identifiers.org/omim/612138|MESH:C567408|SNOMEDCT:716701004
NCBITaxon:41665	Neopterygii	organism taxon	mondo	GC_ID:1		Neopterygi	http://purl.obolibrary.org/obo/NCBITaxon_41665		
MONDO:0012808	dilated cardiomyopathy 1AA	biolink:Disease	mondo	ICD10:I42.0|UMLS:C2677338|OMIM:612158|MESH:C567407|DOID:0110428		dilated cardiomyopathy type 1AA|cardiomyopathy, dilated, 1AA, with or without left ventricular noncompaction; CMD1AA|ACTN2 familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, 1AA, with or without left ventricular noncompaction|cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction|familial isolated dilated cardiomyopathy caused by mutation in ACTN2|dilated cardiomyopathy 1AA with or without left ventricular noncompaction|CMD1AA	http://purl.obolibrary.org/obo/MONDO_0012808	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene.	DOID:0110428|UMLS:C2677338|http://identifiers.org/omim/612158|MESH:C567407
MONDO:0012805	childhood onset GLUT1 deficiency syndrome 2	biolink:Disease	mondo	Orphanet:98811|ICD10:G24.8|OMIM:612126|GARD:0010541|UMLS:C1842534|DOID:0090045|MESH:C564288|SCTID:724072002	ordo_disease	paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic Anemia|ped|paroxysmal exercise-induced dystonia|GLUT1 deficiency syndrome 2; GLUT1DS2|GLUT1 deficiency syndrome 2|GLUT1 deficiency syndrome type 2|dystonia 18|DYT18|paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic Anemia|childhood onset GLUT1 deficiency syndrome type 2|ped with or without epilepsy and/or hemolytic Anemia|paroxysmal exertion-induced dyskinesia|DYT-SLC2A1|PxMD-SLC2A1|GLUT1DS2	http://purl.obolibrary.org/obo/MONDO_0012805	Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.	SNOMEDCT:724072002|http://identifiers.org/omim/612126|ORPHA:98811|DOID:0090045|MESH:C564288|UMLS:C1842534
HGNC:11609	TBXAS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11609		
MONDO:0012806	ectodermal dysplasia and immunodeficiency 2	biolink:Disease	mondo	OMIM:612132|UMLS:C2677481|MESH:C567411		EPAID2|ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0012806		UMLS:C2677481|http://identifiers.org/omim/612132|MESH:C567411
HGNC:11608	TBXA2R	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11608		
HGNC:11610	TCAP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11610		
HGNC:4341	GLUL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4341		
MONDO:0012810	ANIB7	biolink:Disease	mondo	OMIM:612161|MESH:C567406|UMLS:C2677337		ANIB7|aneurysm, intracranial BERRY, 7; ANIB7|aneurysm, intracranial BERRY, 7	http://purl.obolibrary.org/obo/MONDO_0012810		UMLS:C2677337|http://identifiers.org/omim/612161|MESH:C567406
MONDO:0012811	ANIB8	biolink:Disease	mondo	OMIM:612162|MESH:C567405|UMLS:C2677336		ANIB8|aneurysm, intracranial BERRY, 8|aneurysm, intracranial BERRY, 8; ANIB8	http://purl.obolibrary.org/obo/MONDO_0012811		UMLS:C2677336|http://identifiers.org/omim/612162|MESH:C567405
MONDO:0000836	disease of bone structure	biolink:Disease	mondo	DOID:0080010		bone structure disease	http://purl.obolibrary.org/obo/MONDO_0000836		DOID:0080010
MONDO:0000835	obsolete ischemic bone disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000835		
MONDO:0000834	bone deterioration disease	biolink:Disease	mondo	DOID:0080007			http://purl.obolibrary.org/obo/MONDO_0000834	A bone structure disease that results in change or damage of structure located in bone.	DOID:0080007
MONDO:0000833	bone remodeling disease	biolink:Disease	mondo	DOID:0080005			http://purl.obolibrary.org/obo/MONDO_0000833	A bone disease that results in formation or resorption abnormalities located in bone.	DOID:0080005
MONDO:0000839	congenital abnormality	biolink:Disease	mondo	EFO:0003915|UMLS:CN232116|MESH:D000013|ICD9:759.89|DOID:0080015|ICD9:759.9|NCIT:C2849|ICD10:Q00.Q99|SCTID:276654001		congenital deformity|congenital defect|congenital abnormality|physical disorder|congenital anatomic Abnormality|congenital Abnormality|fetal developmental abnormality|CM - congenital malformation|SCONG|congenital anomaly|congenital defect/deformity|congenital anomaly or birth defect|fetal malformation|congenital malformation|congenital anatomical Abnormality|congenital anomalies of fetus|foetal malformation|defect/deformity, congenital|defect/deformity, Congenital|birth defect|deformity/defect, Congenital	http://purl.obolibrary.org/obo/MONDO_0000839	Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period.	SNOMEDCT:276654001|UMLS:CN232116|MESH:D000013|DOID:0080015|NCIT:C2849
MONDO:0000838	obsolete chromosomal disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000838		
MONDO:0000837	bone resorption disease	biolink:Disease	mondo	MESH:D001862|DOID:0080011			http://purl.obolibrary.org/obo/MONDO_0000837	Bone loss due to osteoclastic activity.	DOID:0080011|MESH:D001862
MONDO:0000810	obsolete DMD-related dilated cardiomyopathy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000810	A dilated cardiomyopathy that has material basis in mutations in the DMD gene.	
NCBITaxon:51028	Enterobius vermicularis	organism taxon	mondo	GC_ID:1		human pinworm	http://purl.obolibrary.org/obo/NCBITaxon_51028		
NCBITaxon:51027	Enterobius	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_51027		
MONDO:0000809	purpura fulminans	biolink:Disease	mondo	SCTID:13507004|EFO:1001913|ICD10:D65|DOID:0060538|MESH:D055665		purpura gangrenosa|fibrinolytic purpura	http://purl.obolibrary.org/obo/MONDO_0000809	A severe, rapidly fatal reaction occurring most commonly in children following an infectious illness. It is characterized by large, rapidly spreading skin hemorrhages, fever, or shock. Purpura fulminans often accompanies or is triggered by disseminated intravascular coagulation.	MESH:D055665|DOID:0060538|SNOMEDCT:13507004
MONDO:0000808	obsolete hepatoid adenocarcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000808		
MONDO:0012800	trichoepithelioma, multiple familial, 2	biolink:Disease	mondo	MESH:C567418|UMLS:C2677505|GARD:0010373|OMIM:612099	gard_rare	trichoepithelioma, multiple familial, 2|Mft2|multiple familial trichoepithelioma 2|trichoepithelioma multiple familial 2|trichoepithelioma, multiple familial, type 2	http://purl.obolibrary.org/obo/MONDO_0012800		http://identifiers.org/omim/612099|UMLS:C2677505|MESH:C567418
MONDO:0000803	tiger prawn allergy	biolink:Disease	mondo	DOID:0060528		allergy of Penaeus monodon|Penaeus monodon allergic disease|Penaeus monodon allergy|Penaeus monodon caused allergic disease	http://purl.obolibrary.org/obo/MONDO_0000803	A allergy involving a Penaeus monodon.	DOID:0060528
MONDO:0000802	Indian prawn allergy	biolink:Disease	mondo	DOID:0060527		Fenneropenaeus indicus allergy|Indian prawn allergic disease|allergy of Indian prawn	http://purl.obolibrary.org/obo/MONDO_0000802	A allergic disease involving a Indian prawn.	DOID:0060527
MONDO:0000801	green mud crab allergy	biolink:Disease	mondo	DOID:0060526		Scylla paramamosain allergy|allergy of green mud crab|crab allergy|green mud crab allergic disease	http://purl.obolibrary.org/obo/MONDO_0000801	A allergic disease involving a green mud crab.	DOID:0060526
MONDO:0000800	brown shrimp allergy	biolink:Disease	mondo	DOID:0060525		allergy of brown shrimp|Farfantepenaeus aztecus allergy|brown shrimp allergic disease	http://purl.obolibrary.org/obo/MONDO_0000800	A allergic disease involving a brown shrimp.	DOID:0060525
MONDO:0000807	latex allergy	biolink:Disease	mondo	DOID:0060532|COHD:4102123|MESH:D020315|ICD9:995.3|SCTID:300916003|ICD9:V15.07|ICD9:989.82			http://purl.obolibrary.org/obo/MONDO_0000807	Allergic reaction to products containing processed natural rubber latex such as rubber gloves, condoms, catheters, dental dams, balloons, and sporting equipment. Both T-cell mediated (hypersensitivity, delayed) and IgE antibody-mediated (hypersensitivity, immediate) allergic responses are possible. Delayed hypersensitivity results from exposure to antioxidants present in the rubber; immediate hypersensitivity results from exposure to a latex protein.	DOID:0060532|SNOMEDCT:300916003|MESH:D020315
MONDO:0000806	horned turban snail allergy	biolink:Disease	mondo	DOID:0060531		allergy of Turbo cornutus|Turbo cornutus caused allergic disease|Turbo cornutus allergic disease|Turbo cornutus allergy	http://purl.obolibrary.org/obo/MONDO_0000806	A allergy involving a Turbo cornutus.	DOID:0060531
NCBITaxon:51026	Oxyuridae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_51026		
MONDO:0000805	snail allergy	biolink:Disease	mondo	DOID:0060530		snail food product allergic disease|allergy of snail food product	http://purl.obolibrary.org/obo/MONDO_0000805	A allergic disease involving a snail food product.	DOID:0060530
MONDO:0000804	white shrimp allergy	biolink:Disease	mondo	DOID:0060529		Litopenaeus schmitti allergic disease|Litopenaeus vannamei allergy|Litopenaeus schmitti caused allergic disease|allergy of Litopenaeus schmitti	http://purl.obolibrary.org/obo/MONDO_0000804	A allergy involving a Litopenaeus schmitti.	DOID:0060529
NCBITaxon:51025	Oxyuroidea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_51025		
MONDO:0000821		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000821		
MONDO:0000820	cerebral cavernous malformation	biolink:Disease	mondo	DOID:0060669|NCIT:C84626		familial cavernous angioma|cavernous angiomatous malformations|cerebral capillary malformations|CCM	http://purl.obolibrary.org/obo/MONDO_0000820	A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur.	NCIT:C84626|DOID:0060669
MONDO:0000819	anencephaly	biolink:Disease	mondo	ICD10:00.0|NCIT:C84560|DOID:0060668		anencephalus	http://purl.obolibrary.org/obo/MONDO_0000819	A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus.	DOID:0060668|NCIT:C84560
UBERON:0006011	hyaloid vein	biolink:AnatomicalEntity	mondo			hyaloid veins	http://purl.obolibrary.org/obo/UBERON_0006011		
UBERON:0006010	hyaloid canal	biolink:AnatomicalEntity	mondo			Cloquet's canal|canalis hyaloideus|canal of Cloquet|Stilling's canal	http://purl.obolibrary.org/obo/UBERON_0006010	A small transparent canal running through the vitreous body from the optical nerve disc to the lens. It is formed by an invagination of the hyaloid, a membrane which encloses the vitreous body[WP].	
MONDO:0000814	B-cell adult acute lymphocytic leukemia	biolink:Disease	mondo	UMLS:C0279593|DOID:0060592|NCIT:C9143|EFO:1001935		adult B cell acute lymphoblastic leukemia|B-cell adult acute lymphoblastic leukemia|B-cell adult ALL|adult B-cell acute lymphocytic leukemia|B-cell childhood acute lymphoblastic leukemia of adults|adult B cell ALL|B cell adult acute lymphoblastic leukemia|adult B-lymphoblastic leukemia|adult B acute lymphoblastic leukemia|adult B-cell ALL|adult B cell acute lymphocytic leukemia|adult B-cell childhood acute lymphoblastic leukemia|B acute lymphoblastic leukemia|B cell adult acute lymphocytic leukemia|adult B-cell acute lymphoblastic leukemia|adult precursor B-lymphoblastic leukemia|B cell adult ALL|adult B-cell lymphocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0000814	An acute B-lymphoblastic leukemia occurring in adults.	DOID:0060592|UMLS:C0279593|NCIT:C9143
MONDO:0000813	cardiac tuberculosis	biolink:Disease	mondo	MESH:D014381|DOID:0060570|EFO:1001442|UMLS:C0041308		cardiovascular tuberculosis	http://purl.obolibrary.org/obo/MONDO_0000813	Pathological conditions of the cardiovascular system caused by infection of mycobacterium tuberculosis. Tuberculosis involvement may include the heart; the blood vessels; or the pericardium.	DOID:0060570|MESH:D014381|UMLS:C0041308
MONDO:0000812	vertebral column disease	biolink:Disease	mondo	UMLS:C0037933|SCTID:699699005|MESH:D013122|DOID:0060564|ICD9:724.9		disease or disorder of vertebral column|disease of vertebral column|vertebral column disease|spinal disease|vertebral column disease or disorder|disease of spine|disorder of vertebral column	http://purl.obolibrary.org/obo/MONDO_0000812	A disease involving the vertebral column.	DOID:0060564|MESH:D013122|SNOMEDCT:699699005|UMLS:C0037933
MONDO:0000811	anomalous left coronary artery from the pulmonary artery	biolink:Disease	mondo	MESH:D063748|UMLS:C1735886|DOID:0060562		Bland-White-Garland syndrome|ALCAPA|BWGS|ALCAPA disorder|White-Garland syndrome	http://purl.obolibrary.org/obo/MONDO_0000811	A congenital coronary vessel anomaly in which the left main coronary artery originates from the pulmonary artery instead of from aorta. The congenital heart defect typically results in coronary artery fistula; left-sided heart failure and mitral valve insufficiency during the first months of life.	DOID:0060562|MESH:D063748|UMLS:C1735886
NCBITaxon:77643	Mycobacterium tuberculosis complex	organism taxon	mondo	GC_ID:11|PMID:29205127|PMID:15243089		Mycobacterium complex	http://purl.obolibrary.org/obo/NCBITaxon_77643		
MONDO:0000818	obsolete lethal congenital contracture syndrome 4	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000818		
HGNC:4367	GM2A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4367		
MONDO:0000817		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000817		
MONDO:0000816	abdominal obesity-metabolic syndrome	biolink:Disease	mondo	MESH:C535554|OMIMPS:605552|UMLS:C2930930|DOID:0060611			http://purl.obolibrary.org/obo/MONDO_0000816		MESH:C535554|DOID:0060611|UMLS:C2930930
MONDO:0000815	fetal nicotine spectrum disorder	biolink:Disease	mondo	DOID:0060606			http://purl.obolibrary.org/obo/MONDO_0000815	A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy.	DOID:0060606
MONDO:0000872	B-cell childhood acute lymphoblastic leukemia	biolink:Disease	mondo	NCIT:C9140|EFO:1001946|UMLS:C0279584|DOID:0080146		B cell pediatric acute lymphocytic leukemia|B-cell pediatric acute lymphogenous leukemia|B cell childhood ALL|B cell childhood acute lymphoblastic leukemia|childhood B acute lymphoblastic leukemia|B-cell childhood acute lymphoid leukemia|B-cell childhood ALL|B-cell childhood acute lymphocytic leukemia|B-cell childhood acute lymphogenous leukemia|B-cell pediatric acute lymphoblastic leukemia|B acute lymphoblastic leukemia|B cell childhood acute lymphocytic leukemia|B cell pediatric acute lymphoblastic leukemia|B cell pediatric ALL|childhood B-ALL|B-cell pediatric acute lymphocytic leukemia|childhood precursor B-lymphoblastic leukemia|B-cell pediatric acute lymphoid leukemia|B-cell pediatric ALL	http://purl.obolibrary.org/obo/MONDO_0000872	An acute B-lymphoblastic leukemia occurring in children.	UMLS:C0279584|DOID:0080146|NCIT:C9140
GO:0051038	negative regulation of transcription involved in meiotic cell cycle	biolink:OntologyClass	mondo			down regulation of transcription during meiosis|inhibition of transcription during meiosis|down-regulation of transcription during meiosis|negative regulation of transcription, meiotic|negative regulation of meiotic transcription|downregulation of transcription during meiosis|meiotic repression of transcription	http://purl.obolibrary.org/obo/GO_0051038	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription involved in the meiotic cell cycle.	
MONDO:0000871	T-cell childhood acute lymphocytic leukemia	biolink:Disease	mondo	DOID:0080145|EFO:1001947|NCIT:C7953|UMLS:C0279583		T-cell childhood acute lymphocytic leukemia|T-cell pediatric acute lymphoblastic leukemia|childhood T acute lymphoblastic leukemia|T-cell childhood ALL|T acute lymphoblastic leukemia|childhood T-ALL|T-cell pediatric acute lymphocytic leukemia|T-cell childhood acute lymphoblastic leukemia|childhood T-cell acute lymphoblastic leukemia|childhood precursor T-lymphoblastic leukemia|T-cell pediatric ALL	http://purl.obolibrary.org/obo/MONDO_0000871	An acute lymphoblastic leukemia of T-cell origin occurring in children.	NCIT:C7953|UMLS:C0279583|DOID:0080145
GO:0051039	positive regulation of transcription involved in meiotic cell cycle	biolink:OntologyClass	mondo			upregulation of transcription during meiosis|positive regulation of meiotic transcription|up regulation of transcription during meiosis|stimulation of transcription during meiosis|positive regulation of transcription, meiotic|up-regulation of transcription during meiosis|activation of transcription during meiosis	http://purl.obolibrary.org/obo/GO_0051039	Any process that activates or increases the frequency, rate or extent of transcription as part of a meiotic cell cycle.	
MONDO:0000870	childhood acute lymphoblastic leukemia	biolink:Disease	mondo	DOID:0080144|NCIT:C3168|GARD:0009240	gard_rare	acute lymphoblastic leukemia (ALL)|childhood precursor lymphoblastic leukemia|pediatric acute lymphoblastic leukemia|pediatric ALL|childhood acute lymphocytic leukemia|pediatric acute lymphoid leukemia|pediatric acute lymphogenous leukemia|pediatric acute lymphocytic leukemia (ALL)|pediatric acute lymphocytic leukemia|childhood ALL|childhood acute lymphoid leukemia|childhood acute lymphoblastic leukemia|childhood acute lymphogenous leukemia	http://purl.obolibrary.org/obo/MONDO_0000870	An acute lymphoblastic leukemia occurring during childhood. The majority of cases are B-acute lymphoblastic leukemias. Approximately 15% of the cases are T-acute lymphoblastic leukemias.	NCIT:C3168|DOID:0080144
GO:0051037	regulation of transcription involved in meiotic cell cycle	biolink:OntologyClass	mondo			meiotic regulation of transcription|regulation of transcription, meiotic	http://purl.obolibrary.org/obo/GO_0051037	Any process that modulates the frequency, rate or extent of transcription as part of a meiotic cell cycle.	
NCBITaxon:6757	Portunidae	organism taxon	mondo	GC_ID:1		swimming crabs	http://purl.obolibrary.org/obo/NCBITaxon_6757		
MONDO:0000876	obsolete herpes simplex virus keratitis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000876		
MONDO:0009209	autosomal recessive faciodigitogenital syndrome	biolink:Disease	mondo	ICD10:Q87.8|Orphanet:1974|OMIM:227330	ordo_malformation_syndrome	Aarskog-like syndrome|facio-digito-genital syndrome, Kuwait type|Aarskog-like syndrome|Teebi-Naguib-Alawadi syndrome|Kuwait type faciodigitogenital syndrome|faciodigitogenital syndrome, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009209	Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.	http://identifiers.org/omim/227330|ORPHA:1974
MONDO:0000875	adult acute monocytic leukemia	biolink:Disease	mondo	UMLS:C0280634|DOID:0080149|NCIT:C8263		adult acute differentiated monocytic leukemia (M5b)|adult acute monocytic leukemia|M5b adult acute leukemia|acute monocytic leukemia|acute monocytic leukemia of adults|M5b adult acute differentiated monocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0000875	A acute monocytic leukemia that occurs in an adult.	NCIT:C8263|UMLS:C0280634|DOID:0080149
MONDO:0009208	faciothoracogenital syndrome	biolink:Disease	mondo	MESH:C536387|UMLS:C2931184|GARD:0002228|OMIM:227320		faciothoracogenital syndrome|congenital anomalies, involving mainly the face, thorax, and genitalia|facio thoraco genital syndrome	http://purl.obolibrary.org/obo/MONDO_0009208		UMLS:C2931184|http://identifiers.org/omim/227320|MESH:C536387
MONDO:0000874	T-cell childhood lymphoblastic lymphoma	biolink:Disease	mondo	EFO:1001948|UMLS:C1332998|NCIT:C7210|DOID:0080148		T lymphoblastic lymphoma|childhood precursor T-lymphoblastic lymphoma|childhood T lymphoblastic lymphoma	http://purl.obolibrary.org/obo/MONDO_0000874	A T lymphoblastic lymphoma that occurs during childhood.	UMLS:C1332998|NCIT:C7210|DOID:0080148
MONDO:0000873	lymphoblastic lymphoma	biolink:Disease	mondo	UMLS:C0079748|ICD9:202.80|NCIT:C9360|SCTID:109965004|GARD:0003329|DOID:0080147|ICDO:9727/3	gard_rare	lymphoma, lymphoblastic|precursor lymphoblastic lymphoma|precursor cell lymphoblastic lymphoma|lymphoblastic lymphoma|lymphoma, lymphoblastic, malignant	http://purl.obolibrary.org/obo/MONDO_0000873	A lymphoma composed of immature small to medium-sized precursor lymphoid cells (lymphoblasts). It includes the B- and T-cell lymphoblastic lymphoma.	UMLS:C0079748|SNOMEDCT:109965004|DOID:0080147|NCIT:C9360
MONDO:0009207	factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor	biolink:Disease	mondo	UMLS:C1856882|OMIM:227310		factor V and Factor VIII, combined deficiency of, with normal protein c and Protein C inhibitor|factor 5 and Factor VIII, combined deficiency Of, with normal Protein C and Protein C inhibitor	http://purl.obolibrary.org/obo/MONDO_0009207		http://identifiers.org/omim/227310|UMLS:C1856882
MONDO:0012858	primary CD59 deficiency	biolink:Disease	mondo	OMIM:612300|UMLS:C2676767|MESH:C567355|ICD10:D84.1|Orphanet:169464	ordo_disease	HACD59|hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy; HACD59|CD59 deficiency|hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0012858		MESH:C567355|http://identifiers.org/omim/612300|UMLS:C2676767|ORPHA:169464
MONDO:0009206	factor V and factor VIII, combined deficiency of, type 1	biolink:Disease	mondo	SCTID:84048006|OMIM:227300		factor V and factor VIII, combined deficiency of, 1|combined deficiency of factor V and factor VIII caused by mutation in LMAN1|factor 5 and Factor VIII, combined deficiency of, 1|F5F8D1|factor V and factor VIII, combined deficiency of, 1; F5F8D1|familial multiple coagulation Factor deficiency 1|multiple coagulation Factor deficiency 1|FMFD 1|LMAN1 combined deficiency of factor V and factor VIII	http://purl.obolibrary.org/obo/MONDO_0009206	Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the LMAN1 gene.	SNOMEDCT:84048006|http://identifiers.org/omim/227300
MONDO:0009205	faciocardiorenal syndrome	biolink:Disease	mondo	GARD:0002230|Orphanet:1973|SCTID:723333000|MESH:C536388|UMLS:C0795936|OMIM:227280|ICD10:Q87.8	ordo_malformation_syndrome|gard_rare	Eastman-Bixler syndrome|faciocardiorenal syndrome|Eastman Bixler syndrome	http://purl.obolibrary.org/obo/MONDO_0009205	Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects.	UMLS:C0795936|http://identifiers.org/omim/227280|MESH:C536388|ORPHA:1973|SNOMEDCT:723333000
MONDO:0012859	autosomal recessive osteopetrosis 7	biolink:Disease	mondo	UMLS:C2676766|GARD:0010106|DOID:0110946|ICD10:Q78.2|MESH:C567354|Orphanet:178389|OMIM:612301	ordo_disease|gard_rare	osteopetrosis autosomal recessive 7|osteopetrosis, autosomal recessive 7; OPTB7|osteopetrosis-hypogammaglobulinemia syndrome|autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia|osteoclast-poor osteopetrosis with hypogammaglobulinemia|OPTB7|osteopetrosis (disease) caused by mutation in TNFRSF11A|osteopetrosis, autosomal recessive type 7|osteopetrosis, osteoclast-poor, with hypogammaglobulinemia|autosomal recessive osteopetrosis type 7|osteopetrosis, autosomal recessive 7|osteopetrosis osteoclast-poor with hypogammaglobulinemia|TNFRSF11A osteopetrosis (disease)	http://purl.obolibrary.org/obo/MONDO_0012859	Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFRS11A gene.	MESH:C567354|ORPHA:178389|http://identifiers.org/omim/612301|UMLS:C2676766|DOID:0110946
UBERON:0006082	fundus of urinary bladder	biolink:AnatomicalEntity	mondo			base of urinary bladder|fundus of bladder|urinary bladder fundus region|bladder dome|urinary bladder fundus|urinary bladder base|fundus vesicae	http://purl.obolibrary.org/obo/UBERON_0006082	The base or posterior surface of the urinary bladder contains the trigone of the bladder and the outlet where urine empties through the internal urethral orifice.	
MONDO:0012856	Birk-Barel syndrome	biolink:Disease	mondo	GARD:0010358|DOID:0050675|MESH:C567357|UMLS:C2676770|OMIM:612292|Orphanet:166108|SCTID:764861005|ICD10:Q87.8	ordo_disease|gard_rare	BIRK-Barel intellectual disability dysmorphism syndrome|intellectual disability-hypotonia-facial dysmorphism syndrome|intellectual disability, Birk-Barel type|mental retardation with hypotonia and Facial Dysmorphism|BIRK-Barel mental retardation dysmorphism syndrome|intellectual disability with hypotonia and Facial Dysmorphism|Birk-Barel syndrome|Birk Barel mental retardation dysmorphism syndrome|Birk Barel intellectual disability dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0012856	Birk-Barel syndrome is an inherited condition characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8. This condition demonstrates dominant inheritance with paternal imprinting, which means that a mutation in the maternal gene will result in disease, but a mutation in the paternal gene will have no effect (imprinted with paternal silencing).	http://identifiers.org/omim/612292|MESH:C567357|UMLS:C2676770|DOID:0050675|SNOMEDCT:764861005|ORPHA:166108
MONDO:0009204	lethal faciocardiomelic dysplasia	biolink:Disease	mondo	Orphanet:1972|GARD:0002229|MESH:C565578|UMLS:C1856891|OMIM:227270|ICD10:Q87.8|SCTID:719400000	ordo_malformation_syndrome|gard_rare	faciocardiomelic dysplasia lethal|faciocardiomelic dysplasia, lethal	http://purl.obolibrary.org/obo/MONDO_0009204	Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome.	http://identifiers.org/omim/227270|ORPHA:1972|MESH:C565578|UMLS:C1856891|SNOMEDCT:719400000
MONDO:0012857	POROK5	biolink:Disease	mondo	MESH:C567356|UMLS:C2676769|OMIM:612293		porokeratosis 5, disseminated superficial actinic type|porokeratosis 5, disseminated superficial actinic type; POROK5|POROK5|porokeratosis, disseminated superficial actinic, 3	http://purl.obolibrary.org/obo/MONDO_0012857		http://identifiers.org/omim/612293|MESH:C567356|UMLS:C2676769
MONDO:0009203	focal facial dermal dysplasia type III	biolink:Disease	mondo	Orphanet:1807|SCTID:403771007|GARD:0000121|ICD10:Q82.8|OMIM:227260	gard_rare|ordo_clinical_subtype	facial ectodermal dysplasia|FFDD type 2|bitemporal forceps Marks syndrome|FFDD type III|focal facial dermal dysplasia 3, Setleis type|focal facial dermal dysplasia type 2|FFDD3|focal Facial dermal dysplasia, type II, formerly|Setleis syndrome|bitemporal forceps marks syndrome|FFDD3|focal facial dermal dysplasia 3, Setleis type; FFDD3|focal Facial dermal dysplasia, type II	http://purl.obolibrary.org/obo/MONDO_0009203	Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.	UMLS:C1744559|SNOMEDCT:403771007|http://identifiers.org/omim/227260|ORPHA:1807|MESH:C536385
MONDO:0009202	Thakker-Donnai syndrome	biolink:Disease	mondo	Orphanet:1780|UMLS:C2931219|OMIM:227255|ICD10:Q87.8|GARD:0005158	gard_rare|ordo_malformation_syndrome	Dysmorphism-multiple structural anomalies syndrome|Dysmorphism multiple structural anomalies|facial dysmorphism with multiple malformations|dysmorphic facial features and multiple structural abnormalities	http://purl.obolibrary.org/obo/MONDO_0009202		http://identifiers.org/omim/227255|ORPHA:1780|UMLS:C2931219
MONDO:0009201	facial abnormalities, kyphoscoliosis, and mental retardation	biolink:Disease	mondo	OMIM:227250|MESH:C565580|UMLS:C1856893		facial abnormalities, kyphoscoliosis, and intellectual disability|facial abnormalities, kyphoscoliosis, and mental retardation	http://purl.obolibrary.org/obo/MONDO_0009201		http://identifiers.org/omim/227250|MESH:C565580|UMLS:C1856893
MONDO:0009200	eyebrow duplication-syndactyly syndrome	biolink:Disease	mondo	MESH:C536383|UMLS:C1856896|Orphanet:3172|OMIM:227210|GARD:0002216	ordo_malformation_syndrome	eyebrows, DUPLICATION of, with stretchable skin and syndactyly|eyebrows duplication of, with stretchable skin and syndactyly	http://purl.obolibrary.org/obo/MONDO_0009200	Eyebrow duplication-syndactyly syndrome is characterised by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive.	ORPHA:3172|http://identifiers.org/omim/227210|MESH:C536383|UMLS:C1856896
MONDO:0012861	premature ovarian failure 6	biolink:Disease	mondo	OMIM:612310|UMLS:C2676742|MESH:C567351		premature ovarian failure type 6|FIGLA primary ovarian failure|primary ovarian failure caused by mutation in FIGLA|premature ovarian failure 6; Pof6|Pof6|premature ovarian failure 6	http://purl.obolibrary.org/obo/MONDO_0012861	Any primary ovarian failure in which the cause of the disease is a mutation in the FIGLA gene.	MESH:C567351|http://identifiers.org/omim/612310|UMLS:C2676742
MONDO:0012862	attention deficit-hyperactivity disorder, susceptibility to, 5	biolink:Disease	mondo	OMIM:612311	predisposition	Adhd5|attention deficit-hyperactivity disorder, susceptibility to, 5|motor timing quantitative trait locus|attention Deficit-hyperactivity disorder, susceptibility to, type 5	http://purl.obolibrary.org/obo/MONDO_0012862		http://identifiers.org/omim/612311
MONDO:0010200	Wilson disease	biolink:Disease	mondo	UMLS:C0019202|SCTID:88518009|NCIT:C84756|MedDRA:10019819|DOID:893|OMIM:277900|GARD:0007893|Orphanet:905|ICD10:E83.0|MESH:D006527|ICD10:E83.01	ordo_disease|gard_rare|clingen	WD|hepatolenticular degeneration|hepatolenticular Degeneration|cerebral pseudosclerosis|Wnd|Wilson disease|Westphal pseudosclerosis|Wilson's disease|Westphal-Strumpell syndrome	http://purl.obolibrary.org/obo/MONDO_0010200	Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.	MEDDRA:10019819|DOID:893|SNOMEDCT:88518009|ORPHA:905|UMLS:C0019202|MESH:D006527|NCIT:C84756|http://identifiers.org/omim/277900
MONDO:0012860	thrombophilia due to protein C deficiency, autosomal recessive	biolink:Disease	mondo	OMIM:612304|UMLS:C2676759|MESH:C567353|GARD:0013041	gard_rare	Proc deficiency, autosomal recessive|Protein C deficiency, autosomal recessive|thrombophilia due to protein C deficiency, autosomal recessive|hereditary thrombophilia due to PC deficiency|thrombophilia due to PROTEIN C deficiency, autosomal recessive; THPH4|autosomal recessive protein C deficiency|THPH4|hereditary thrombophilia due to congenital protein C deficiency|autosomal recessive hereditary thrombophilia due to protein C deficiency	http://purl.obolibrary.org/obo/MONDO_0012860		MESH:C567353|http://identifiers.org/omim/612304|UMLS:C2676759
MONDO:0012865	Pseudofolliculitis barbae	biolink:Disease	mondo	OMIM:612318|UMLS:C0549150|ICD10:L73.1|COHD:4160464|MESH:C563016		pili Incarnati|Pseudofolliculitis barbae|PFB|ingrown hairs	http://purl.obolibrary.org/obo/MONDO_0012865		UMLS:C0549150|MESH:C563016|http://identifiers.org/omim/612318
MONDO:0010202	obsolete Wiskott-Aldrich syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0010202		
MONDO:0010201	Winchester syndrome	biolink:Disease	mondo	UMLS:CN204453|SCTID:254151006|GARD:0007894|OMIM:277950|ICD9:733.29		multicentric osteolysis, nodulosis and arthropathy|Winchester syndrome|noa syndrome|Winchester-Grossman syndrome|Al-Qeel Sewairi syndrome|Torg Winchester syndrome|WNCHRS|nodulosis arthropathy osteolysis syndrome|Winchester syndrome; WNCHRS	http://purl.obolibrary.org/obo/MONDO_0010201		SNOMEDCT:254151006|UMLS:CN204453|http://identifiers.org/omim/277950
MONDO:0012866	hereditary spastic paraplegia 35	biolink:Disease	mondo	SCTID:764688002|MESH:C567311|UMLS:C3496228|DOID:0110786|OMIM:612319|Orphanet:171629|ICD10:G11.4	ordo_disease	FAHN|SPG35|autosomal recessive spastic paraplegia type 35|fatty acid hydroxylase-associated neurodegeneration|leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia|spastic paraplegia 35, autosomal recessive|autosomal recessive spastic paraplegia 35|FA2H hereditary spastic paraplegia|hereditary spastic paraplegia caused by mutation in FA2H|leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia|spastic paraplegia 35, autosomal recessive; SPG35|hereditary spastic paraplegia type 35	http://purl.obolibrary.org/obo/MONDO_0012866	Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.	DOID:0110786|SNOMEDCT:764688002|ORPHA:171629|UMLS:C3496228|MESH:C567311|http://identifiers.org/omim/612319
GO:1905207	regulation of cardiocyte differentiation	biolink:OntologyClass	mondo			regulation of cardiac cell differentiation|regulation of heart cell differentiation	http://purl.obolibrary.org/obo/GO_1905207	Any process that modulates the frequency, rate or extent of cardiocyte differentiation.	
MONDO:0010204	lysosomal acid lipase deficiency	biolink:Disease	mondo	GARD:0012097|OMIM:278000|ICD10:E75.5|Orphanet:275761|DOID:0080217|MESH:C531854|SCTID:715923003	ordo_disease	lysosomal acid lipase deficiency|LAL deficiency|Wolman disease|cholesterol ester hydrolase deficiency|cholesteryl ester storage disease|lysosomal and lipase deficiency|lipa deficiency	http://purl.obolibrary.org/obo/MONDO_0010204	Lysosomal acid lipase deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease, or 2) a less severe form, cholesteryl ester storage disease, of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis.	DOID:0080217|SNOMEDCT:715923003|http://identifiers.org/omim/278000|ORPHA:275761|MESH:C531854
MONDO:0012863	attention deficit-hyperactivity disorder, susceptibility to, 6	biolink:Disease	mondo	OMIM:612312	predisposition	Adhd6|digit span quantitative trait locus|attention deficit-hyperactivity disorder, susceptibility to, 6|attention Deficit-hyperactivity disorder, susceptibility to, type 6	http://purl.obolibrary.org/obo/MONDO_0012863		http://identifiers.org/omim/612312
GO:1905208	negative regulation of cardiocyte differentiation	biolink:OntologyClass	mondo			down regulation of cardiocyte differentiation|down regulation of heart cell differentiation|inhibition of cardiocyte differentiation|inhibition of heart cell differentiation|downregulation of cardiac cell differentiation|down-regulation of cardiocyte differentiation|down-regulation of heart cell differentiation|negative regulation of heart cell differentiation|down regulation of cardiac cell differentiation|inhibition of cardiac cell differentiation|negative regulation of cardiac cell differentiation|down-regulation of cardiac cell differentiation|downregulation of cardiocyte differentiation|downregulation of heart cell differentiation	http://purl.obolibrary.org/obo/GO_1905208	Any process that stops, prevents or reduces the frequency, rate or extent of cardiocyte differentiation.	
MONDO:0012864	chromosome 2q32-q33 deletion syndrome	biolink:Disease	mondo	OMIM:612313|Orphanet:251019|MESH:C567350|SCTID:719659003|DOID:0060428|ICD10:Q93.5|UMLS:C2676739|GARD:0013206|UMLS:C4304531	gard_rare|ordo_malformation_syndrome	SATB2 syndrome|monosomy 2q32-q33|glass|monosomy 2q32|glass syndrome|2q32q33 microdeletion syndromes|glass syndrome; glass|SATB2-associated syndrome|monosomy 2q32q33|Del(2)(q32q33)|chromosome 2q32-q33 deletion syndrome|2q32-q33 microdeletion syndrome|SAS|Del(2)(q32)|2q32q33 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0012864	2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.	UMLS:C2676739|UMLS:C4304531|ORPHA:251019|DOID:0060428|SNOMEDCT:719659003|MESH:C567350|http://identifiers.org/omim/612313
GO:1905209	positive regulation of cardiocyte differentiation	biolink:OntologyClass	mondo			up regulation of cardiac cell differentiation|up-regulation of cardiac cell differentiation|upregulation of cardiocyte differentiation|activation of cardiac cell differentiation|upregulation of heart cell differentiation|positive regulation of heart cell differentiation|up regulation of cardiocyte differentiation|upregulation of cardiac cell differentiation|up regulation of heart cell differentiation|up-regulation of cardiocyte differentiation|up-regulation of heart cell differentiation|positive regulation of cardiac cell differentiation|activation of cardiocyte differentiation|activation of heart cell differentiation	http://purl.obolibrary.org/obo/GO_1905209	Any process that activates or increases the frequency, rate or extent of cardiocyte differentiation.	
MONDO:0010203	intellectual disability, Wolff type	biolink:Disease	mondo	ICD10:Q87.0|MESH:C537448|Orphanet:3080|UMLS:C1848439|OMIM:277990	ordo_malformation_syndrome	Wolff-Zimmermann syndrome|WOLFF intellectual disability syndrome|WOLFF mental retardation syndrome	http://purl.obolibrary.org/obo/MONDO_0010203	Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias.	MESH:C537448|UMLS:C1848439|ORPHA:3080|http://identifiers.org/omim/277990
MONDO:0000869	obsolete congenital fibrosis of the extraocular muscles	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000869		
MONDO:0000868	obsolete mitochondrial DNA depletion syndrome 6	biolink:Disease	mondo			MTDPS6|mitochondrial DNA depletion syndrome type 6	http://purl.obolibrary.org/obo/MONDO_0000868		
MONDO:0000867	obsolete multiple pterygium syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000867		
MONDO:0000866	myoglobinuria	biolink:Disease	mondo	HP:0002913|MESH:D009212|NCIT:C114705|ICD10:R82.1|DOID:0080108		myoglobinurias	http://purl.obolibrary.org/obo/MONDO_0000866		DOID:0080108|MESH:D009212|NCIT:C114705
NCBITaxon:6760	Scylla	organism taxon	mondo	GC_ID:1		mud crabs|mangrove crabs	http://purl.obolibrary.org/obo/NCBITaxon_6760		
MONDO:0000883	myeloid neoplasms associated with PDGFRB rearrangement	biolink:Disease	mondo	ICDO:9966/3|DOID:0080166|NCIT:C84276|ONCOTREE:MLNPDGFRB|UMLS:C2827361		myeloid neoplasms with PDGFRB rearrangement|myeloid and lymphoid neoplasms with PDGFRB rearrangement|myeloid/lymphoid neoplasms with PDGFRB rearrangement	http://purl.obolibrary.org/obo/MONDO_0000883	Myeloid and rarely lymphoid neoplasms characterized by the rearrangement of the PDGFRB gene, most often resulting in the formation of ETV6-PDGFRB fusion transcripts. Patients usually present with chronic myelomonocytic leukemia and less often with atypical chronic myeloid leukemia, or chronic eosinophilic leukemia.	NCIT:C84276|DOID:0080166|UMLS:C2827361
GO:0051049	regulation of transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0051049	Any process that modulates the frequency, rate or extent of the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
MONDO:0000882	myeloid and lymphoid neoplasms associated with PDGFRA rearrangement	biolink:Disease	mondo	DOID:0080165|ONCOTREE:MLNPDGFRA|UMLS:C2827360|NCIT:C84275|ICDO:9965/3		myeloid and lymphoid neoplasms with PDGFRA rearrangement|myeloid/lymphoid neoplasms with PDGFRA rearrangement	http://purl.obolibrary.org/obo/MONDO_0000882	Hematologic neoplasms characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusion transcripts. Patients usually present with chronic eosinophilic leukemia, and less often with acute myeloid leukemia or T-lymphoblastic leukemia.	NCIT:C84275|DOID:0080165|UMLS:C2827360
MONDO:0000881	myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1	biolink:Disease	mondo	DOID:0080164|UMLS:C2827356|NCIT:C84270		myeloid/lymphoid neoplasms with eosinophilia and Gene rearrangement|myeloid and lymphoid neoplasms with eosinophilia and abnormalities of platelet-derived growth factor receptor alpha (PDGFRA), platelet-derived growth factor receptor beta (PDGFRB), and fibroblast growth factor receptor-1 (FGFR1) are a group of hematologic neoplasms|myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1|myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with Pcm1-JAK2|myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with Pcm1-JAK2	http://purl.obolibrary.org/obo/MONDO_0000881	A group of rare myeloid and lymphoid neoplasms characterized by rearrangement of the PDGFRA, PDGFRB, or FGFR1 genes, resulting in the formation of fusion transcripts and aberrant tyrosine kinase activity. Eosinophilia is a characteristic finding but it is not always present. This group includes the myeloid and lymphoid neoplasms with t(8;9)(p22;p24.1);PCM1-JAK2 as a provisional entity.	NCIT:C84270|DOID:0080164|UMLS:C2827356
GO:0051047	positive regulation of secretion	biolink:OntologyClass	mondo			stimulation of secretion|upregulation of secretion|up-regulation of secretion|up regulation of secretion|activation of secretion	http://purl.obolibrary.org/obo/GO_0051047	Any process that activates or increases the frequency, rate or extent of the controlled release of a substance from a cell or a tissue.	
GO:0051048	negative regulation of secretion	biolink:OntologyClass	mondo			down-regulation of secretion|down regulation of secretion|inhibition of secretion|downregulation of secretion	http://purl.obolibrary.org/obo/GO_0051048	Any process that stops, prevents, or reduces the frequency, rate or extent of the controlled release of a substance from a cell or a tissue.	
NCBITaxon:4107	Solanum	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_4107		
MONDO:0000880	obsolete lupus nephritis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000880		
MONDO:0000887	obsolete hepatic veno-occlusive disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000887		
MONDO:0000886	obsolete meningococcal meningitis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000886		
MONDO:0009219	fascial dystrophy, congenital	biolink:Disease	mondo	ICD9:709.8|OMIM:228020|MESH:C563219|SCTID:399948007		fascial dystrophy, congenital	http://purl.obolibrary.org/obo/MONDO_0009219		http://identifiers.org/omim/228020|SNOMEDCT:399948007|MESH:C563219
MONDO:0000885	obsolete cloacal exstrophy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000885		
MONDO:0009218	Farber lipogranulomatosis	biolink:Disease	mondo	GARD:0006426|MESH:D055577|ICD9:272.8|UMLS:C0268255|SCTID:79935000|UMLS:CN204335|NCIT:C84710|OMIM:228000|DOID:0050464|ICD10:E75.2|Orphanet:333	ordo_disease	Farber's disease|N-Laurylsphingosine deacylase deficiency|Farber lipogranulomatosis; FRBRL|AC deficiency|Farber disease|FRBRL|acid ceramidase deficiency|N-LAURYLSPHINGOSINE deacylase deficiency|Farber lipogranulomatosis|ceramidase deficiency	http://purl.obolibrary.org/obo/MONDO_0009218	Farber disease is a rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.	UMLS:CN204335|UMLS:C0268255|NCIT:C84710|http://identifiers.org/omim/228000|MESH:C537075|UMLS:C2936785|MESH:D055577|DOID:0050464|ORPHA:333|SNOMEDCT:79935000
MONDO:0000884	myeloid and lymphoid neoplasms associated with FGFR1 abnormalities	biolink:Disease	mondo	DOID:0080167			http://purl.obolibrary.org/obo/MONDO_0000884		DOID:0080167
MONDO:0012847	autosomal recessive congenital ichthyosis 6	biolink:Disease	mondo	OMIM:612281|ICD10:Q80.2|UMLS:C2677065|DOID:0060715		ichthyosis, congenital, autosomal recessive 6; ARCI6|ichthyosis, congenital, autosomal recessive, Nipal4-related|ARCI6|ichthyosis, congenital, autosomal recessive 6|autosomal recessive congenital ichthyosis type 6|ichthyosis, congenital, autosomal recessive type 6	http://purl.obolibrary.org/obo/MONDO_0012847	Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the NIPAL4 gene.	UMLS:C2677065|http://identifiers.org/omim/612281|DOID:0060715
UBERON:0006072	cervical region of vertebral column	biolink:AnatomicalEntity	mondo			cervical spinal column|cervical vertebrae series|cervical skeleton|cervical spine|cervical vertebral column|axial skeleton cervical region|skeletal system of neck	http://purl.obolibrary.org/obo/UBERON_0006072	That portion of the spine comprising the cervical vertebrae. The neck area of the spine.	
MONDO:0009217	Fanconi-like syndrome	biolink:Disease	mondo	UMLS:C0151638|OMIM:227850|MESH:C536855|SCTID:236469003|DOID:0090066		Fanconi-like syndrome	http://purl.obolibrary.org/obo/MONDO_0009217	A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.	UMLS:C0151638|http://identifiers.org/omim/227850|DOID:0090066|MESH:C536855|SNOMEDCT:236469003
MONDO:0009216	glycogen storage disease due to GLUT2 deficiency	biolink:Disease	mondo	OMIM:227810|Orphanet:2088|SCTID:61598006|GARD:0002268|ICD10:E74.0	ordo_disease|gard_rare	glycogenosis, Fanconi type|pseudo-phlorizin diabetes|Fanconi-Bickel disease|Fanconi syndrome with intestinal malabsorption and galactose intolerance|hepatorenal glycogenosis with renal fanconi syndrome|FBS|GLUT2 deficiency|Fanconi-Bickel syndrome; FBS|glycogen storage disease XI|Fanconi Bickel syndrome|glycogenosis due to GLUT2 deficiency|glycogenosis Fanconi EXACT|glycogen storage disease 11|hepatic glycogenosis with Fanconi nephropathy|hepatorenal glycogenosis with renal Fanconi syndrome|GSD type XI|GSD due to GLUT2 deficiency|glycogen storage disease type XI|GSD type 11|Fanconi-Bickel syndrome|Bickel-Fanconi glycogenosis|glycogen storage disease type 11|hepatic glycogenosis with amino aciduria and glucosuria|glycogen storage disease due to GLUT2 deficiency	http://purl.obolibrary.org/obo/MONDO_0009216	Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism.	ORPHA:2088|http://identifiers.org/omim/227810|SNOMEDCT:61598006
MONDO:0012848	Meckel syndrome, type 6	biolink:Disease	mondo	ICD10:Q61.9|DOID:0070120|MESH:C567365|OMIM:612284|UMLS:C2676790		Meckel syndrome, type 6; MKS6|Meckel syndrome caused by mutation in CC2D2A|MKS6|Meckel syndrome, type 6|Meckel syndrome 6|Meckel-Gruber syndrome, type 6|CC2D2A Meckel syndrome	http://purl.obolibrary.org/obo/MONDO_0012848	Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene.	MESH:C567365|http://identifiers.org/omim/612284|UMLS:C2676790|DOID:0070120
UBERON:0006071	caudal region	biolink:AnatomicalEntity	mondo			post-anal tail region|tail region|post-anal caudal region|postsacral region	http://purl.obolibrary.org/obo/UBERON_0006071	Subdivision of an organism along anterior-posterior axis that is the posteriormost region, extending past the anus (or cloaca, if present), consisting of a tail in some fully formed chordates (or a tail bud in embryos). In animals that have a sacral region, this is the region immediately posterior to this.	
MONDO:0012845	inflammatory bowel disease 19	biolink:Disease	mondo	DOID:0110890|OMIM:612278|MESH:C567372|UMLS:C2677079		IBD19|inflammatory bowel disease type 19|inflammatory bowel disease caused by mutation in IRGM|inflammatory bowel disease 19; IBD19|inflammatory bowel disease (Crohn disease) 19; IBD19|IRGM inflammatory bowel disease|inflammatory bowel disease (Crohn disease) 19|inflammatory bowel disease 19	http://purl.obolibrary.org/obo/MONDO_0012845	Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRGM gene.	http://identifiers.org/omim/612278|MESH:C567372|DOID:0110890|UMLS:C2677079
MONDO:0009215	Fanconi anemia complementation group A	biolink:Disease	mondo	NCIT:C125702|EFO:0009044|OMIM:227650|DOID:0111095|UMLS:CN653908|GTR:AN1051558		Fanconi Anemia, complementation group type a|FANCA|Estren-Dameshek variant of Fanconi Anemia|Fanconi anemia complementation group type A|Fanconi Anemia, Estren-Dameshek variant|Fanconi anemia, complementation group A; FANCA|FANCA Fanconi anemia|Fanconi Anemia|Fanconi anemia, complementation group A|Fanconi anemia caused by mutation in FANCA|Estren-Dameshek variant of Fanconi pancytopenia	http://purl.obolibrary.org/obo/MONDO_0009215	Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway.	UMLS:CN653908|DOID:0111095|http://identifiers.org/omim/227650|NCIT:C125702
MONDO:0012846	GEFSP6	biolink:Disease	mondo	UMLS:C2677078|OMIM:612279|DOID:0111300|MESH:C567371		generalized epilepsy with febrile seizures plus, type 6|generalized epilepsy with febrile seizures plus, type 6; GEFSP6|GEFSP6|Gefs+, type 6	http://purl.obolibrary.org/obo/MONDO_0012846		http://identifiers.org/omim/612279|MESH:C567371|DOID:0111300|UMLS:C2677078
MONDO:0009214	Fanconi anemia complementation group D2	biolink:Disease	mondo	DOID:0111083|UMLS:C3160738|NCIT:C125706|OMIM:227646		Fanconi anemia, complementation group D2|Fanconi pancytopenia type 4|Fanconi pancytopenia, type 4|Fanconi Anemia, complementation group D|Fanconi anemia, complementation group D2; FANCD2|Fad2|FANCD2|FA4|FAD2	http://purl.obolibrary.org/obo/MONDO_0009214	Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing.	DOID:0111083|http://identifiers.org/omim/227646|UMLS:C3160738|NCIT:C125706
MONDO:0009213	Fanconi anemia complementation group C	biolink:Disease	mondo	DOID:0111087|UMLS:C3468041|OMIM:227645|NCIT:C125704		Fanconi anemia complementation group type C|Fanconi Anemia, complementation group type C|FANCC|facc|FACC|Fanconi pancytopenia, type 3|FA3|Fanconi pancytopenia type 3|Fanconi anemia, complementation group C|Fanconi anemia, complementation group C; FANCC	http://purl.obolibrary.org/obo/MONDO_0009213	Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA.	DOID:0111087|http://identifiers.org/omim/227645|NCIT:C125704|UMLS:C3468041
MONDO:0009212	congenital factor X deficiency	biolink:Disease	mondo	SCTID:76642003|ICD9:286.3|OMIM:227600|DOID:2222|ICD10:D68.2|GARD:0006404|Orphanet:328|NCIT:C98940	ordo_disease	disease, Stuart-Prower|Stuart-Prower Factor deficiency|factor X deficiency, congenital|congenital Stuart factor deficiency|hereditary Factor X deficiency|factor 10 deficiency|Stuart factor deficiency, congenital|Stuart-Prower factor deficiency|F10 deficiency|factor X deficiency	http://purl.obolibrary.org/obo/MONDO_0009212	Congenital factor X deficiency is an inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms.	SNOMEDCT:76642003|ORPHA:328|http://identifiers.org/omim/227600|DOID:2222|NCIT:C98940
MONDO:0009211	congenital factor VII deficiency	biolink:Disease	mondo	UMLS:C1394919|OMIM:227500|DOID:2215|ICD10:D68.2|MedDRA:10016079|GARD:0002238|Orphanet:327|NCIT:C131631	ordo_disease	deficiency, stable|congenital proconvertin deficiency|F7 deficiency|factor VII deficiency|factor 7 deficiency|hypoproconvertinemia	http://purl.obolibrary.org/obo/MONDO_0009211	Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor.	UMLS:C1394919|ORPHA:327|http://identifiers.org/omim/227500|MEDDRA:10016079|DOID:2215|NCIT:C131631
MONDO:0012849	Joubert syndrome 9	biolink:Disease	mondo	UMLS:C2676788|MESH:C567364|OMIM:612285|DOID:0111004		Joubert syndrome 9; JBTS9|Joubert syndrome 9|Joubert syndrome 9/15, digenic|JBTS9|Joubert syndrome caused by mutation in CC2D2A|Joubert syndrome type 9|CC2D2A Joubert syndrome	http://purl.obolibrary.org/obo/MONDO_0012849	Any Joubert syndrome in which the cause of the disease is a mutation in the CC2D2A gene.	MESH:C567364|http://identifiers.org/omim/612285|UMLS:C2676788|DOID:0111004
MONDO:0009210	congenital factor V deficiency	biolink:Disease	mondo	UMLS:C0015499|MESH:D005166|ICD10:D68.2|MedDRA:10048930|DOID:2216|GARD:0002237|SCTID:88776002|NCIT:C98938|OMIM:227400|Orphanet:326	ordo_disease|gard_rare	hereditary hypoproaccelerinaemia|Parahemophilia|factor 5 deficiency|Proaccelerin deficiency|hereditary factor V deficiency|factor V deficiency|Owren disease|hereditary Factor V deficiency|deficiency, labile|labile factor deficiency|labile Factor deficiency|Owren Parahemophilia	http://purl.obolibrary.org/obo/MONDO_0009210	Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms.	UMLS:C0015499|SNOMEDCT:88776002|ORPHA:326|MEDDRA:10048930|http://identifiers.org/omim/227400|DOID:2216|MESH:D005166|NCIT:C98938
MONDO:0012850	hypophosphatemic nephrolithiasis/osteoporosis 1	biolink:Disease	mondo	UMLS:C2676786|OMIM:612286|DOID:0080077|MESH:C567363		nephrolithiasis/osteoporosis, hypophosphatemic, 1; NPHLOP1|nephrolithiasis/osteoporosis, hypophosphatemic, type 1|NPHLOP1|hypophosphatemic nephrolithiasis/osteoporosis type 1|nephrolithiasis/osteoporosis, hypophosphatemic, 1	http://purl.obolibrary.org/obo/MONDO_0012850		UMLS:C2676786|MESH:C567363|http://identifiers.org/omim/612286|DOID:0080077
GO:1905213	negative regulation of mitotic chromosome condensation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1905213	Any process that stops, prevents or reduces the frequency, rate or extent of mitotic chromosome condensation.	
MONDO:0012851	hypophosphatemic nephrolithiasis/osteoporosis 2	biolink:Disease	mondo	OMIM:612287|DOID:0080078|MESH:C567362|UMLS:C2676782		NPHLOP2|nephrolithiasis/osteoporosis, hypophosphatemic, 2; NPHLOP2|nephrolithiasis/osteoporosis, hypophosphatemic, type 2|hypophosphatemic nephrolithiasis/osteoporosis type 2|nephrolithiasis/osteoporosis, hypophosphatemic, 2	http://purl.obolibrary.org/obo/MONDO_0012851		UMLS:C2676782|DOID:0080078|MESH:C567362|http://identifiers.org/omim/612287
GO:1905214	regulation of RNA binding	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1905214	Any process that modulates the frequency, rate or extent of RNA binding.	
HGNC:4385	GNAI2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4385		
GO:1905215	negative regulation of RNA binding	biolink:OntologyClass	mondo			down-regulation of RNA binding|down regulation of RNA binding|inhibition of RNA binding|downregulation of RNA binding	http://purl.obolibrary.org/obo/GO_1905215	Any process that stops, prevents or reduces the frequency, rate or extent of RNA binding.	
UBERON:0006077	subdivision of vertebral column	biolink:AnatomicalEntity	mondo			vertebral subdivision|vertebral series|subdivision of vertebral skeleton|vertebral column subdivision|vertebral region|vertebrae series	http://purl.obolibrary.org/obo/UBERON_0006077	A collection of all skeletal elements in some subdivision of the vertebral column.	
GO:1905216	positive regulation of RNA binding	biolink:OntologyClass	mondo			activation of RNA binding|upregulation of RNA binding|up-regulation of RNA binding|up regulation of RNA binding	http://purl.obolibrary.org/obo/GO_1905216	Any process that activates or increases the frequency, rate or extent of RNA binding.	
UBERON:0006076	caudal region of vertebral column	biolink:AnatomicalEntity	mondo			postsacral region|caudal vertebrae series|caudal region|caudal skeleton|axial skeleton tail region|tail region	http://purl.obolibrary.org/obo/UBERON_0006076	Subdivision of vertebral column that corresponds to the caudal subdivision of the body, containing the caudal vertebrae.	
MONDO:0012854	bilateral microtia-deafness-cleft palate syndrome	biolink:Disease	mondo	MESH:C567359|ICD10:Q87.0|UMLS:C2676772|Orphanet:140963|OMIM:612290	ordo_malformation_syndrome	microtia, hearing impairment, and cleft palate|microtia with or without hearing impairment	http://purl.obolibrary.org/obo/MONDO_0012854	This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	UMLS:C2676772|ORPHA:140963|http://identifiers.org/omim/612290|MESH:C567359
MONDO:0012855	Joubert syndrome 8	biolink:Disease	mondo	OMIM:612291|UMLS:C2676771|MESH:C567358|DOID:0111003		ARL13B Joubert syndrome|Joubert syndrome caused by mutation in ARL13B|Joubert syndrome type 8|Joubert syndrome 8; JBTS8|JBTS8|Joubert syndrome 8	http://purl.obolibrary.org/obo/MONDO_0012855	Any Joubert syndrome in which the cause of the disease is a mutation in the ARL13B gene.	http://identifiers.org/omim/612291|MESH:C567358|DOID:0111003|UMLS:C2676771
UBERON:0006075	sacral region of vertebral column	biolink:AnatomicalEntity	mondo			sacral vertebrae series|sacral skeleton|axial skeleton sacral region|sacrum	http://purl.obolibrary.org/obo/UBERON_0006075	Subdivision of vertebral column that corresponds to the sacral subdivision of the body, containing the sacral vertebrae or sacrum.	
MONDO:0012852	inflammatory bowel disease 20	biolink:Disease	mondo	OMIM:612288|DOID:0110898|MESH:C567361|UMLS:C2676781		inflammatory bowel disease type 20|inflammatory bowel disease 20|IBD20|inflammatory bowel disease 20; IBD20	http://purl.obolibrary.org/obo/MONDO_0012852	An inflammatory bowel disease that has material basis in variation in the chromosome region 10q23-q24.	UMLS:C2676781|DOID:0110898|MESH:C567361|http://identifiers.org/omim/612288
UBERON:0006074	lumbar region of vertebral column	biolink:AnatomicalEntity	mondo			axial skeleton lumbar region|lumbar spine|lumbar vertebrae series|lumbar skeleton|lumbar vertebral column	http://purl.obolibrary.org/obo/UBERON_0006074	Subdivision of vertebral column that corresponds to the lumbar subdivision of the body, containing the lumbar vertebrae.	
MONDO:0012853	progeroid syndrome, Petty type	biolink:Disease	mondo	SCTID:205800003|ICD10:E34.8|OMIM:233500|GARD:0004497|GARD:0000066|Orphanet:2095|ICD9:759.89|UMLS:C2931653|MESH:C537290|ICD10:Q87.0|OMIM:612289	ordo_malformation_syndrome|gard_rare	Fontaine progeroid syndrome; FPS|Petty-Laxova-Wiedemann syndrome|dental and eye anomalies, patent ductus arteriosus, and normal intelligence|Gorlin-Chaudhry-Moss syndrome|craniofacial dysostosis-genital, dental, cardiac anomalies syndrome|craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies|Fontaine progeroid syndrome|progeroid syndrome congenital Petty type|Gorlin Chaudhry Moss syndrome|progeroid syndrome, congenital, Petty type|Petty syndrome|FPS|dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome|craniofacial dysostosis, hypertrichosis, Hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence|progeroid syndrome Petty type|cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome|craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora|GCM syndrome|Petty Laxova Wiedemann syndrome|GCMS	http://purl.obolibrary.org/obo/MONDO_0012853	Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.	MESH:C537290|SNOMEDCT:205800003|UMLS:C2931653|ORPHA:2095|UMLS:C0345382|http://identifiers.org/omim/612289|http://identifiers.org/omim/233500
UBERON:0006073	thoracic region of vertebral column	biolink:AnatomicalEntity	mondo			thoracic spine|thoracic vertebral column|axial skeleton thoracic region|columna vertebralis thoracicus|thoracic vertebrae series	http://purl.obolibrary.org/obo/UBERON_0006073	That part of the spine comprising the thoracic vertebrae.	
NCBITaxon:6774	Portunoidea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6774		
MONDO:0000879	cutaneous candidiasis	biolink:Disease	mondo	MESH:D002179|DOID:0080161|UMLS:C0006846		zone of skin candidiasis	http://purl.obolibrary.org/obo/MONDO_0000879	Candidiasis of the skin manifested as eczema-like lesions of the interdigital spaces, perleche, or chronic paronychia. (Dorland, 27th ed)	DOID:0080161|UMLS:C0006846|MESH:D002179
MONDO:0000878	cytomegalovirus retinitis	biolink:Disease	mondo	EFO:1001302|NCIT:C50521|DOID:0080160|UMLS:C0206178|GARD:0009531|SCTID:22455005|MESH:D017726	gard_rare	Cytomegalovirus retinitis|cytomegalovirus retinitis|Cytomegaloviral Retinitis|Cytomegalovirus caused retinitis|CMV retinitis|Retinitis, Cytomegaloviral	http://purl.obolibrary.org/obo/MONDO_0000878	Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in aids patients and can cause blindness.	DOID:0080160|UMLS:C0206178|NCIT:C50521|SNOMEDCT:22455005|MESH:D017726
MONDO:0000877	obsolete Cryptococcal meningitis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000877		
HGNC:4389	GNAO1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4389		
GO:0051046	regulation of secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0051046	Any process that modulates the frequency, rate or extent of the controlled release of a substance from a cell or a tissue.	
HGNC:4388	GNAL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4388		
HGNC:4387	GNAI3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4387		
MONDO:0000850	obsolete hypochondroplasia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000850		
GO:0051058	negative regulation of small GTPase mediated signal transduction	biolink:OntologyClass	mondo			negative regulation of small GTPase-mediated signal transduction|down regulation of small GTPase mediated signal transduction|downregulation of small GTPase mediated signal transduction|inhibition of small GTPase mediated signal transduction|down-regulation of small GTPase mediated signal transduction	http://purl.obolibrary.org/obo/GO_0051058	Any process that stops, prevents, or reduces the frequency, rate or extent of small GTPase mediated signal transduction.	
MONDO:0000854	obsolete Stickler syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000854		
MONDO:0000853	obsolete Kniest dysplasia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000853		
MONDO:0000852	obsolete hypochondrogenesis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000852		
MONDO:0000851	obsolete achondrogenesis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000851		
MONDO:0012836	systemic lupus erythematosus, susceptibility to, 12	biolink:Disease	mondo	OMIM:612254	predisposition	systemic lupus erythematosus, susceptibility to, 12; SLEB12|systemic lupus erythematosus, susceptibility to, 12|SLEB12	http://purl.obolibrary.org/obo/MONDO_0012836		http://identifiers.org/omim/612254
UBERON:0006061	process of vertebra	biolink:AnatomicalEntity	mondo			spinous process|vertebral process|vertebra process	http://purl.obolibrary.org/obo/UBERON_0006061	A process projection from a part of the vertebra such as centrum or arches. Examples: transverse process, diapophyses, parapophyses, and zygapophyses (both the cranial zygapophyses and the caudal zygapophyses).	
MONDO:0012837	inflammatory bowel disease 15	biolink:Disease	mondo	MESH:C567381|UMLS:C2677094|OMIM:612255|DOID:0110897		inflammatory bowel disease type 15|inflammatory bowel disease 15|IBD15|inflammatory bowel disease 15; IBD15	http://purl.obolibrary.org/obo/MONDO_0012837	An inflammatory bowel disease that has material basis in variation in the chromosome region 10q21.	UMLS:C2677094|MESH:C567381|http://identifiers.org/omim/612255|DOID:0110897
MONDO:0012834	systemic lupus erythematosus, susceptibility to, 10	biolink:Disease	mondo	OMIM:612251	predisposition	SLEB10|susceptibility to systemic lupus erythematosus 10|systemic lupus erythematosus, susceptibility to, 10|systemic lupus erythematosus (disease) caused by mutation in IRF5|systemic lupus erythematosus, susceptibility to, 10; SLEB10|IRF5 systemic lupus erythematosus (disease)|systemic lupus erythematosus, susceptibility to, type 10	http://purl.obolibrary.org/obo/MONDO_0012834	Any systemic lupus erythematosus in which the cause of the disease is a mutation in the IRF5 gene.	http://identifiers.org/omim/612251
MONDO:0012835	systemic lupus erythematosus, susceptibility to, 11	biolink:Disease	mondo	OMIM:612253	predisposition	systemic lupus erythematosus, susceptibility to, type 11|susceptibility to systemic lupus erythematosus 11|systemic lupus erythematosus, susceptibility to, 11|STAT4 systemic lupus erythematosus (disease)|systemic lupus erythematosus, susceptibility to, 11; SLEB11|SLEB11|systemic lupus erythematosus (disease) caused by mutation in STAT4	http://purl.obolibrary.org/obo/MONDO_0012835	Any systemic lupus erythematosus in which the cause of the disease is a mutation in the STAT4 gene.	http://identifiers.org/omim/612253
MONDO:0012838	inflammatory bowel disease 16	biolink:Disease	mondo	MESH:C567380|OMIM:612259|UMLS:C2677093|DOID:0110896		inflammatory bowel disease type 16|IBD16|inflammatory bowel disease 16|inflammatory bowel disease 16; IBD16	http://purl.obolibrary.org/obo/MONDO_0012838	An inflammatory bowel disease that has material basis in variation in the chromosome region 9q32.	UMLS:C2677093|MESH:C567380|http://identifiers.org/omim/612259|DOID:0110896
MONDO:0012839	pyogenic bacterial infections due to MyD88 deficiency	biolink:Disease	mondo	UMLS:C2677092|ICD10:D84.8|GARD:0012638|MESH:C567379|OMIM:612260|Orphanet:183713	ordo_disease	MyD88 deficiency; MYD88D|MyD88 deficiency|MYD88D|pyogenic bacterial infections, recurrent, due to MyD88 deficiency|recurrent pyogenic bacterial infections due to MyD88 deficiency	http://purl.obolibrary.org/obo/MONDO_0012839	Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease.	UMLS:C2677092|MESH:C567379|ORPHA:183713|http://identifiers.org/omim/612260
MONDO:0012840	inflammatory bowel disease 17	biolink:Disease	mondo	MESH:C567378|DOID:0110883|OMIM:612261|UMLS:C2677091		inflammatory bowel disease caused by mutation in IL23R|inflammatory bowel disease type 17|inflammatory bowel disease 17|IBD17|IL23R inflammatory bowel disease|inflammatory bowel disease 17; IBD17	http://purl.obolibrary.org/obo/MONDO_0012840	Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL23R gene.	http://identifiers.org/omim/612261|DOID:0110883|UMLS:C2677091|MESH:C567378
UBERON:0006068	bone of tail	biolink:AnatomicalEntity	mondo			tail vertebra|tail bone	http://purl.obolibrary.org/obo/UBERON_0006068	A bone that is part of a post-anal tail.	
HGNC:4396	GNB1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4396		
UBERON:0006067	musculature of hindlimb zeugopod	biolink:AnatomicalEntity	mondo			muscle group of leg|leg musculature|set of muscles of leg	http://purl.obolibrary.org/obo/UBERON_0006067	Any collection of muscles that is part of a hindlimb zeugopod.	
HGNC:4394	GNAT2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4394		
UBERON:0006065	hemal arch	biolink:AnatomicalEntity	mondo			chevron|ventral arcocentrum|haemal arch|ventral arch	http://purl.obolibrary.org/obo/UBERON_0006065	A vertebral arch that is attached to the ventral surface or the vertebral centrum and encloses and protects the caudal artery and vein ventrally.	
MONDO:0012843	epilepsy, childhood absence, susceptibility to, 5	biolink:Disease	mondo	OMIM:612269	predisposition	ECA5|epilepsy, childhood absence, susceptibility to, 5|epilepsy, childhood absence, susceptibility to, type 5|susceptibility to childhood absence epilepsy 5|GABRB3 childhood absence epilepsy|epilepsy, childhood absence, susceptibility to, 5; ECA5|childhood absence epilepsy caused by mutation in GABRB3	http://purl.obolibrary.org/obo/MONDO_0012843	Any childhood absence epilepsy in which the cause of the disease is a mutation in the GABRB3 gene.	http://identifiers.org/omim/612269
HGNC:4393	GNAT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4393		
MONDO:0012844	primary ciliary dyskinesia 8	biolink:Disease	mondo	DOID:0110616|OMIM:612274|MESH:C567373|ICD10:Q34.8|UMLS:C2677085		primary ciliary dyskinesia 8 with or without situs inversus|ciliary dyskinesia, primary, 8|CILD8|ciliary dyskinesia, primary, 8, with or without situs inversus|ciliary dyskinesia, primary, 8; CILD8|primary ciliary dyskinesia type 8	http://purl.obolibrary.org/obo/MONDO_0012844	A primary ciliary dyskinesia that has material basis in variation in the chromosome region 15q24-q25.	http://identifiers.org/omim/612274|MESH:C567373|DOID:0110616|UMLS:C2677085
HGNC:4392	GNAS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4392		
MONDO:0012841	inflammatory bowel disease 18	biolink:Disease	mondo	UMLS:C2677090|DOID:0110888|MESH:C567377|OMIM:612262		inflammatory bowel disease 18; IBD18|IBD18|inflammatory bowel disease type 18|inflammatory bowel disease 18	http://purl.obolibrary.org/obo/MONDO_0012841	An inflammatory bowel disease that has material basis in variation in the chromosome region 5p13.1.	http://identifiers.org/omim/612262|MESH:C567377|DOID:0110888|UMLS:C2677090
MONDO:0012842	CMM7	biolink:Disease	mondo	OMIM:612263	predisposition	melanoma, cutaneous malignant, susceptibility to, 7|melanoma, cutaneous malignant, susceptibility to, 7; CMM7|CMM7	http://purl.obolibrary.org/obo/MONDO_0012842		http://identifiers.org/omim/612263
HGNC:4390	GNAQ	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4390		
GO:0051052	regulation of DNA metabolic process	biolink:OntologyClass	mondo			regulation of DNA metabolism	http://purl.obolibrary.org/obo/GO_0051052	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving DNA.	
MONDO:0000847	obsolete pycnodysostosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000847		
MONDO:0000846	obsolete craniodiaphyseal dysplasia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000846		
GO:0051053	negative regulation of DNA metabolic process	biolink:OntologyClass	mondo			down regulation of DNA metabolic process|inhibition of DNA metabolic process|downregulation of DNA metabolic process|negative regulation of DNA metabolism|down-regulation of DNA metabolic process	http://purl.obolibrary.org/obo/GO_0051053	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving DNA.	
MONDO:0024813	pulmonary sulcus neoplasm	biolink:Disease	mondo	NCIT:C27710		pulmonary sulcus tumor|pulmonary sulcus neoplasm	http://purl.obolibrary.org/obo/MONDO_0024813	A neoplasm originating from the apical lung. Most superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor.	NCIT:C27710
MONDO:0000845	fibrous dysplasia	biolink:Disease	mondo	ICD9:733.29|SCTID:254145001|NCIT:C34609|DOID:0080031		fibrous dysplasia of bone	http://purl.obolibrary.org/obo/MONDO_0000845	A genetic, non-inheritable disorder caused by osteoblastic differentiation defects that result in the replacement of bone marrow and trabecular bone by fibrous stroma and immature bone. It usually affects a single bone and less frequently multiple bones. Skull, femur, tibia, and humerus are the most frequently affected bones. It manifests with pain, deformities, and fractures.	DOID:0080031|NCIT:C34609|SNOMEDCT:254145001
GO:0051050	positive regulation of transport	biolink:OntologyClass	mondo			up-regulation of transport|up regulation of transport|activation of transport|stimulation of transport|upregulation of transport	http://purl.obolibrary.org/obo/GO_0051050	Any process that activates or increases the frequency, rate or extent of the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
GO:0051051	negative regulation of transport	biolink:OntologyClass	mondo			down regulation of transport|inhibition of transport|downregulation of transport|down-regulation of transport	http://purl.obolibrary.org/obo/GO_0051051	Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
MONDO:0000844	obsolete spondyloepimetaphyseal dysplasia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000844		
GO:0051056	regulation of small GTPase mediated signal transduction	biolink:OntologyClass	mondo			regulation of small GTPase-mediated signal transduction	http://purl.obolibrary.org/obo/GO_0051056	Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction.	
GO:0051057	positive regulation of small GTPase mediated signal transduction	biolink:OntologyClass	mondo			up-regulation of small GTPase mediated signal transduction|up regulation of small GTPase mediated signal transduction|activation of small GTPase mediated signal transduction|stimulation of small GTPase mediated signal transduction|positive regulation of small GTPase-mediated signal transduction|upregulation of small GTPase mediated signal transduction	http://purl.obolibrary.org/obo/GO_0051057	Any process that activates or increases the frequency, rate or extent of small GTPase mediated signal transduction.	
MONDO:0000849	fibrogenesis imperfecta ossium	biolink:Disease	mondo	DOID:0080040		baker's disease	http://purl.obolibrary.org/obo/MONDO_0000849	A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures.	DOID:0080040
GO:0051054	positive regulation of DNA metabolic process	biolink:OntologyClass	mondo			up-regulation of DNA metabolic process|up regulation of DNA metabolic process|activation of DNA metabolic process|stimulation of DNA metabolic process|upregulation of DNA metabolic process|positive regulation of DNA metabolism	http://purl.obolibrary.org/obo/GO_0051054	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving DNA.	
GO:0051055	negative regulation of lipid biosynthetic process	biolink:OntologyClass	mondo			negative regulation of lipid anabolism|negative regulation of lipid synthesis|downregulation of lipid biosynthetic process|negative regulation of lipid formation|down regulation of lipid biosynthetic process|inhibition of lipid biosynthetic process|negative regulation of lipogenesis|down-regulation of lipid biosynthetic process|negative regulation of lipid biosynthesis	http://purl.obolibrary.org/obo/GO_0051055	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of lipids.	
MONDO:0000848	obsolete axial osteomalacia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000848		
MONDO:0000861	obsolete tubular aggregate myopathy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000861		
MONDO:0000860	obsolete neural tube defect	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000860		
MONDO:0000865	congenital fiber-type disproportion	biolink:Disease	mondo	DOID:0080102			http://purl.obolibrary.org/obo/MONDO_0000865		DOID:0080102
MONDO:0000864	obsolete congenital myopathy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000864		
MONDO:0000863	myopathy, lactic acidosis, and sideroblastic anemia	biolink:Disease	mondo	UMLS:CN220387|GARD:0003885|MESH:C536101|DOID:0080099|Orphanet:2598|OMIMPS:600462|SCTID:724138007|ICD10:G71.3	ordo_disease	myopathy with lactic acidosis and sideroblastic anemia|MLASA|MSA|sideroblastic anemia and mitochondrial myopathy|myopathy, lactic acidosis, and siderblastic anemia|mitochondrial myopathy and sideroblastic anemia|myopathy, lactic acidosis and sideroblastic anemia	http://purl.obolibrary.org/obo/MONDO_0000863	Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.	SNOMEDCT:724138007|ORPHA:2598|MESH:C536101|UMLS:CN220387|DOID:0080099
MONDO:0024812		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0024812		
MONDO:0000862	obsolete reducing body myopathy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000862		
MONDO:0012825	extraskeletal myxoid chondrosarcoma	biolink:Disease	mondo	Orphanet:209916|DOID:6496|UMLS:C1275278|ICD10:C49.9|ICD9:171.9|OMIM:612237|NCIT:C27502|ONCOTREE:EMCHS|SCTID:404079008|MESH:C563195	ordo_disease	extraosseous chondrosarcoma|myxoid extraskeletal chondrosarcoma|EMC|chondrosarcoma, extraskeletal myxoid|extraskeletal chondrosarcoma|myxoid extraosseous chondrosarcoma	http://purl.obolibrary.org/obo/MONDO_0012825	A rare malignant soft tissue neoplasm of uncertain differentiation, characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. The most common sites of involvement are the deep soft tissues of the extremities, particularly the thigh. It usually presents as an enlarging soft tissue mass. Patients may have long survivals, but local recurrences and metastases occur in approximately half of the cases. The most common site of metastasis is the lungs.	DOID:6496|http://identifiers.org/omim/612237|ORPHA:209916|SNOMEDCT:404079008|MESH:C563195|UMLS:C1275278|NCIT:C27502
MONDO:0012826	scoliosis, isolated, susceptibility to, 4	biolink:Disease	mondo	OMIM:612238	predisposition	IS4|scoliosis, isolated, susceptibility to, 4|scoliosis, isolated, susceptibility to, 4; IS4	http://purl.obolibrary.org/obo/MONDO_0012826		http://identifiers.org/omim/612238
MONDO:0012823	CRCS7	biolink:Disease	mondo	OMIM:612232	predisposition	colorectal cancer, susceptibility to, 7; CRCS7|CRCS7|colorectal cancer, susceptibility to, on chromosome 11|colorectal cancer, susceptibility to, 7	http://purl.obolibrary.org/obo/MONDO_0012823		http://identifiers.org/omim/612232
MONDO:0012824	hypomyelinating leukodystrophy 4	biolink:Disease	mondo	DOID:0060789|MESH:C567390|UMLS:C2677109|Orphanet:280288|ICD10:E75.2|OMIM:612233	ordo_clinical_subtype	leukodystrophy caused by mutation in HSPD1|HSPD1 leukodystrophy|mitochondrial HSP60 chaperonopathy|mitochondrial Hsp60 chaperonopathy|Pelizaeus-Merzbacher-like disease due to HSPD1 mutation|hypomyelinating leukodystrophy type 4|leukodystrophy, hypomyelinating, 4|leukodystrophy, hypomyelinating, 4; HLD4|HLD4|Mitchap60 disease|MitCHAP60 disease|leukodystrophy, hypomyelinating, type 4	http://purl.obolibrary.org/obo/MONDO_0012824	Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene.	UMLS:C2677109|MESH:C567390|http://identifiers.org/omim/612233|ORPHA:280288|DOID:0060789
NCBITaxon:41687	Scedosporium	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_41687		
MONDO:0012829	inflammatory bowel disease 12	biolink:Disease	mondo	UMLS:C2677105|MESH:C567388|DOID:0110887|OMIM:612241		inflammatory bowel disease type 12|inflammatory bowel disease 12|inflammatory bowel disease 12; IBD12|IBD12	http://purl.obolibrary.org/obo/MONDO_0012829	An inflammatory bowel disease that has material basis in variation in the chromosome region 3p21.3	UMLS:C2677105|http://identifiers.org/omim/612241|MESH:C567388|DOID:0110887
MONDO:0012827	scoliosis, isolated, susceptibility to, 5	biolink:Disease	mondo	OMIM:612239	predisposition	scoliosis, isolated, susceptibility to, 5|scoliosis, isolated, susceptibility to, 5; IS5|IS5	http://purl.obolibrary.org/obo/MONDO_0012827		http://identifiers.org/omim/612239
MONDO:0012828	atrial fibrillation, familial, 7	biolink:Disease	mondo	OMIM:612240|UMLS:C2677106|MESH:C567389		ATFB7|atrial fibrillation, familial, type 7|atrial fibrillation, familial, 7|atrial fibrillation, familial, 7; ATFB7|familial atrial fibrillation caused by mutation in KCNA5|KCNA5 familial atrial fibrillation	http://purl.obolibrary.org/obo/MONDO_0012828	Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNA5 gene.	UMLS:C2677106|MESH:C567389|http://identifiers.org/omim/612240
UBERON:0006058	multi-limb segment region	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006058	A collection of two or more connected limb segments. Examples: arm (comprising stylopod and zeugopod regions).	
UBERON:0006056	posterior surface of head	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006056		
MONDO:0012832	inflammatory bowel disease 14	biolink:Disease	mondo	OMIM:612245|DOID:0110895|MESH:C567383|UMLS:C2677100		inflammatory bowel disease type 14|inflammatory bowel disease 14|IBD14|IRF5 inflammatory bowel disease|inflammatory bowel disease 14; IBD14|inflammatory bowel disease caused by mutation in IRF5	http://purl.obolibrary.org/obo/MONDO_0012832	Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRF5 gene.	UMLS:C2677100|http://identifiers.org/omim/612245|MESH:C567383|DOID:0110895
MONDO:0012833	Crouzon syndrome-acanthosis nigricans syndrome	biolink:Disease	mondo	Orphanet:93262|DOID:0111161|SCTID:702361006|NCIT:C38145|ICD10:Q75.1|OMIM:612247|MESH:C567382	ordo_malformation_syndrome	Crouzon syndrome with acanthosis nigricans; can|Chronic kidney allograft nephropathy|chronic allograft nephropathy|Crouzon syndrome with acanthosis nigricans|Crouzon-dermoskeletal syndrome|Crouzonodermoskeletal syndrome|CAN	http://purl.obolibrary.org/obo/MONDO_0012833	Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN).	SNOMEDCT:702361006|http://identifiers.org/omim/612247|MESH:C567382|DOID:0111161|NCIT:C38145|ORPHA:93262
MONDO:0012830	chromosome 10q23 deletion syndrome	biolink:Disease	mondo	OMIM:612242|Orphanet:276413|ICD10:Q93.5|GARD:0013018|DOID:0060389|MESH:C567385|UMLS:C2677102|UMLS:CN202618	gard_rare|ordo_malformation_syndrome	10q22.3q23.3 microdeletion syndrome|juvenile polyposis, infantile|chromosome 10q23 deletion syndrome|monosomy 10q22.3q23.3|deletion 10q22.3q23.3|10q22.3q23 microdeletion syndrome|chromosome 10q22.3-q23.2 deletion syndrome|Del(10)(q22.3q23.3)|juvenile polyposis of infancy|chromosome 10Q22.3-q23.2 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0012830	10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.	http://identifiers.org/omim/612242|UMLS:CN202618|MESH:C567385|DOID:0060389|ORPHA:276413|UMLS:C2677102
UBERON:0006052	digit 5	biolink:AnatomicalEntity	mondo			autopod digit 5|limb digit 5|fifth digit|digit V|digiti minimi	http://purl.obolibrary.org/obo/UBERON_0006052	A digit that is part of a digit 5 plus metapodial segment.	
MONDO:0012831	inflammatory bowel disease 13	biolink:Disease	mondo	OMIM:612244|UMLS:C2677101|MESH:C567384|DOID:0110893		inflammatory bowel disease type 13|ABCB1 inflammatory bowel disease|inflammatory bowel disease caused by mutation in ABCB1|inflammatory bowel disease 13|IBD13|inflammatory bowel disease 13; IBD13	http://purl.obolibrary.org/obo/MONDO_0012831	Any inflammatory bowel disease in which the cause of the disease is a mutation in the ABCB1 gene.	http://identifiers.org/omim/612244|MESH:C567384|DOID:0110893|UMLS:C2677101
MONDO:0000858	neuronal intestinal dysplasia	biolink:Disease	mondo	UMLS:C0345244|SCTID:253783001|ICD9:751.5|DOID:0080072			http://purl.obolibrary.org/obo/MONDO_0000858		UMLS:C0345244|DOID:0080072|SNOMEDCT:253783001
NCBITaxon:6752	Brachyura	organism taxon	mondo	GC_ID:1		short-tailed crabs|true crabs	http://purl.obolibrary.org/obo/NCBITaxon_6752		
MONDO:0000857	obsolete Charcot-Marie-Tooth disease type 7	biolink:Disease	mondo	DOID:0080069			http://purl.obolibrary.org/obo/MONDO_0000857	A Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa.	DOID:0080069
MONDO:0000856	obsolete Charcot-Marie-Tooth disease type 6	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000856		
MONDO:0000855	obsolete acromesomelic dysplasia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000855		
MONDO:0000859	spina bifida occulta (disease)	biolink:Disease	mondo	ICD9:756.17|SCTID:76916001|COHD:381677|HP:0003298|NCIT:C101044|MESH:D016136|DOID:0080073		spina bifida occulta	http://purl.obolibrary.org/obo/MONDO_0000859	The mildest form of spina bifida, characterized by any of several neural tube defects which may go undetected until an x-ray is performed. Treatment is symptomatic.	DOID:0080073|NCIT:C101044|SNOMEDCT:76916001|MESH:D016136
UBERON:0006059	falx cerebri	biolink:AnatomicalEntity	mondo			cerebral falx	http://purl.obolibrary.org/obo/UBERON_0006059	The falx cerebri, also known as the cerebral falx, so named from its sickle-like form, is a strong, arched fold of dura mater which descends vertically in the longitudinal fissure between the cerebral hemispheres. It is narrow in front, where it is attached to the crista galli of the ethmoid; and broad behind, where it is connected with the upper surface of the tentorium cerebelli. Its upper margin is convex, and attached to the inner surface of the skull in the middle line, as far back as the internal occipital protuberance; it contains the superior sagittal sinus. Its lower margin is free and concave, and contains the inferior sagittal sinus. The falx cerebri is known to calcify with age.	
GO:2000225	negative regulation of testosterone biosynthetic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000225	Any process that stops, prevents, or reduces the frequency, rate or extent of testosterone biosynthetic process.	
HGNC:6903	MAT1A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6903		
GO:0016628	oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016628	Catalysis of an oxidation-reduction (redox) reaction in which a CH-CH group acts as a hydrogen or electron donor and reduces NAD or NADP.	
HGNC:6909	MATN3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6909		
GO:0016627	oxidoreductase activity, acting on the CH-CH group of donors	biolink:OntologyClass	mondo			oxidoreductase activity, acting on the CH-CH group of donors, other acceptors	http://purl.obolibrary.org/obo/GO_0016627	Catalysis of an oxidation-reduction (redox) reaction in which a CH-CH group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor.	
GO:0016620	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016620	Catalysis of an oxidation-reduction (redox) reaction in which an aldehyde or ketone (oxo) group acts as a hydrogen or electron donor and reduces NAD or NADP.	
HGNC:6912	MATR3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6912		
HGNC:6913	MAX	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6913		
GO:2000224	regulation of testosterone biosynthetic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000224	Any process that modulates the frequency, rate or extent of testosterone biosynthetic process.	
PO:0025131	plant anatomical entity	biolink:OntologyClass	mondo			entidad anat&#243mica vegetal (Spanish, exact)|植物 解剖学（形態）的実体 (Japanese, exact)	http://purl.obolibrary.org/obo/PO_0025131	An anatomical entity that is or was part of a plant.	
HGNC:6922	MBL2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6922		
HGNC:6929	MC1R	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6929		
HP:0001387	Joint stiffness	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:84445001|UMLS:C0162298		Joint stiffness|Stiff joint|Stiff joints	http://purl.obolibrary.org/obo/HP_0001387	Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.	
HP:0025354	Abnormal cellular phenotype	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0025354	An anomaly of cellular morphology or physiology.	
GO:2000241	regulation of reproductive process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000241	Any process that modulates the frequency, rate or extent of reproductive process.	
HGNC:6930	MC2R	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6930		
GO:2000242	negative regulation of reproductive process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000242	Any process that stops, prevents, or reduces the frequency, rate or extent of reproductive process.	
HGNC:6931	MC3R	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6931		
GO:2000243	positive regulation of reproductive process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000243	Any process that activates or increases the frequency, rate or extent of reproductive process.	
HGNC:6932	MC4R	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6932		
HP:0001384	Abnormality of the hip joint	biolink:PhenotypicFeature	mondo	UMLS:C4020870		Abnormality of the hip joints|Abnormality of the hip joint	http://purl.obolibrary.org/obo/HP_0001384	An abnormality of the hip joint.	
GO:0004634	phosphopyruvate hydratase activity	biolink:OntologyClass	mondo			2-phosphoglycerate enolase activity|2-phospho-D-glycerate-hydrolase activity|2-phosphoglycerate dehydratase activity|2-phosphoglyceric dehydratase activity|gamma-enolase activity|2-phospho-D-glycerate hydro-lyase activity|phosphoenolpyruvate hydratase activity|14-3-2-protein|enolase activity|nervous-system specific enolase|2-phospho-D-glycerate hydro-lyase (phosphoenolpyruvate-forming)	http://purl.obolibrary.org/obo/GO_0004634	Catalysis of the reaction: 2-phospho-D-glycerate = phosphoenolpyruvate + H2O.	
GO:2000258	negative regulation of protein activation cascade	biolink:OntologyClass	mondo			negative regulation of protein activation pathway|negative regulation of protein activitory cascade	http://purl.obolibrary.org/obo/GO_2000258	Any process that stops, prevents or reduces the frequency, rate or extent of protein activation cascade.	
HGNC:6936	MCCC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6936		
GO:2000259	positive regulation of protein activation cascade	biolink:OntologyClass	mondo			positive regulation of protein activitory cascade|positive regulation of protein activation pathway	http://purl.obolibrary.org/obo/GO_2000259	Any process that activates or increases the frequency, rate or extent of protein activation cascade.	
HGNC:6937	MCCC2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6937		
HGNC:6938	CHST6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6938		
GO:0016614	oxidoreductase activity, acting on CH-OH group of donors	biolink:OntologyClass	mondo			oxidoreductase activity, acting on the CH-OH group of donors, other acceptors	http://purl.obolibrary.org/obo/GO_0016614	Catalysis of an oxidation-reduction (redox) reaction in which a CH-OH group act as a hydrogen or electron donor and reduces a hydrogen or electron acceptor.	
GO:2000252	negative regulation of feeding behavior	biolink:OntologyClass	mondo			negative regulation of behavioural response to food|negative regulation of behavioral response to food|negative regulation of drinking|negative regulation of eating|negative regulation of feeding behaviour	http://purl.obolibrary.org/obo/GO_2000252	Any process that stops, prevents or reduces the frequency, rate or extent of feeding behavior.	
HP:0001396	Cholestasis	biolink:PhenotypicFeature	mondo	UMLS:C0008370|SNOMEDCT_US:197446008|SNOMEDCT_US:33688009|MSH:D002779|SNOMEDCT_US:30144000		Slowed or blocked flow of bile from liver	http://purl.obolibrary.org/obo/HP_0001396	Impairment of bile flow due to obstruction in bile ducts.	
HP:0001397	Hepatic steatosis	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:197321007|MSH:D005234|UMLS:C2711227|SNOMEDCT_US:442191002		Fatty infiltration of liver|Liver steatosis|Fatty liver|Steatosis	http://purl.obolibrary.org/obo/HP_0001397	Steatosis is a term used to denote lipid accumulation within hepatocytes.	
GO:0016616	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	biolink:OntologyClass	mondo			NADH-dependent glyoxylate reductase|glycolate reductase|glyoxylic acid reductase	http://purl.obolibrary.org/obo/GO_0016616	Catalysis of an oxidation-reduction (redox) reaction in which a CH-OH group acts as a hydrogen or electron donor and reduces NAD+ or NADP.	
GO:2000253	positive regulation of feeding behavior	biolink:OntologyClass	mondo			positive regulation of feeding behaviour|positive regulation of behavioural response to food|positive regulation of eating|positive regulation of drinking|positive regulation of behavioral response to food	http://purl.obolibrary.org/obo/GO_2000253	Any process that activates or increases the frequency, rate or extent of feeding behavior.	
UBERON:0008713	pectoral girdle and thoracic body wall skeletal muscle	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0008713		
UBERON:0008715	muscle tissue of prostate	biolink:AnatomicalEntity	mondo			prostatic musclular tissue|prostate gland muscle tissue|prostate muscle tissue|prostatic muscle	http://purl.obolibrary.org/obo/UBERON_0008715	A muscle tissue that is part of a prostate gland.	
HGNC:6944	MCM2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6944		
UBERON:0008716	hilum of kidney	biolink:AnatomicalEntity	mondo			renal hilum|hilar area of the kidney	http://purl.obolibrary.org/obo/UBERON_0008716	An opening on medial margin of the kidney leading into the renal sinus. he renal vessels enter/leave the kidney at the hilum; the renal pelvis leaves the kidney at the hilum.	
GO:2000257	regulation of protein activation cascade	biolink:OntologyClass	mondo			regulation of protein activitory cascade|regulation of protein activation pathway	http://purl.obolibrary.org/obo/GO_2000257	Any process that modulates the frequency, rate or extent of protein activation cascade.	
HP:0001394	Cirrhosis	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:19943007|MSH:D008103|UMLS:C0023890		Hepatic cirrhosis|Scar tissue replaces healthy tissue in the liver|Liver cirrhosis	http://purl.obolibrary.org/obo/HP_0001394	A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.	
HP:0001392	Abnormality of the liver	biolink:PhenotypicFeature	mondo	UMLS:C4021780|MSH:D008107|UMLS:C0023895|SNOMEDCT_US:235856003		Abnormality of the liver|Abnormal liver|Liver disease|Liver abnormality	http://purl.obolibrary.org/obo/HP_0001392	An abnormality of the liver.	
GO:0004602	glutathione peroxidase activity	biolink:OntologyClass	mondo			glutathione:hydrogen-peroxide oxidoreductase activity|selenium-glutathione peroxidase activity|GSH peroxidase activity|reduced glutathione peroxidase activity|non-selenium glutathione peroxidase activity	http://purl.obolibrary.org/obo/GO_0004602	Catalysis of the reaction: 2 glutathione + hydrogen peroxide = oxidized glutathione + 2 H2O.	
GO:0004601	peroxidase activity	biolink:OntologyClass	mondo			horseradish peroxidase (HRP)|protoheme peroxidase|lactoperoxidase activity|extensin peroxidase|oxyperoxidase activity|MPO|peroxidase reaction|myeloperoxidase activity|scopoletin peroxidase|verdoperoxidase|donor:hydrogen-peroxide oxidoreductase activity|secretory plant peroxidase activity|heme peroxidase|thiocyanate peroxidase|guaiacol peroxidase|bacterial catalase-peroxidase activity|pyrocatechol peroxidase|japanese radish peroxidase|eosinophil peroxidase activity	http://purl.obolibrary.org/obo/GO_0004601	Catalysis of the reaction: donor + hydrogen peroxide = oxidized donor + 2 H2O.	
RO:0011002	regulates activity of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0011002	The entity A has an activity that regulates an activity of the entity B. For example, A and B are gene products where the catalytic activity of A regulates the kinase activity of B.	
HGNC:6947	MCM4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6947		
HGNC:6949	MCM6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6949		
MONDO:0000909	Bartter disease type 4B	biolink:Disease	mondo	ICD10:E26.8|UMLS:C2751312|DOID:0110146|OMIM:613090		Bartter syndrome, type 4b, digenic|Bartter syndrome, type 4B, neonatal, with sensorineural deafness|Bartter syndrome, infantile, with sensorineural deafness|Bartter syndrome, type 4B|Bartter syndrome, type 4B, neonatal, with sensorineural deafness; BARTS4B|neonatal Bartter syndrome type 4B with sensorineural deafness|BARTS4B	http://purl.obolibrary.org/obo/MONDO_0000909	A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes.	http://identifiers.org/omim/613090|DOID:0110146|UMLS:C2751312
UBERON:0008788	posterior cranial fossa	biolink:AnatomicalEntity	mondo			fossa cranii posterior|posterior fossa	http://purl.obolibrary.org/obo/UBERON_0008788	The infratentorial compartment that contains the CEREBELLUM and BRAIN STEM. It is formed by the posterior third of the superior surface of the body of the sphenoid (SPHENOID BONE), by the occipital, the petrous, and mastoid portions of the TEMPORAL BONE, and the posterior inferior angle of the PARIETAL BONE.	
MONDO:0000908	arrhythmogenic right ventricular dysplasia 13	biolink:Disease	mondo	OMIM:615616|DOID:0110084|ICD10:I42.8|UMLS:C3810138		arrhythmogenic right ventricular dysplasia, familial, 13; ARVD13|arrhythmogenic right ventricular cardiomyopathy 13|ARVC13|arrhythmogenic right ventricular cardiomyopathy caused by mutation in CTNNA3|arrhythmogenic right ventricular dysplasia type 13|ARVD13|arrhythmogenic right ventricular dysplasia, familial, 13|arrhythmogenic right ventricular dysplasia, familial, type 13|familial arrhythmogenic right ventricular dysplasia 13|CTNNA3 arrhythmogenic right ventricular cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0000908	Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the CTNNA3 gene.	DOID:0110084|UMLS:C3810138|http://identifiers.org/omim/615616
UBERON:0008789	cranial fossa	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0008789	Any of the three large depressions in the posterior, middle, and anterior aspects of the floor of the cranial cavity	
MONDO:0000907	obsolete amelogenesis imperfecta type 1C	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000907		
HGNC:6953	CD46	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6953		
HGNC:6954	MCPH1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6954		
MONDO:0000902	agenesis of the corpus callosum with peripheral neuropathy	biolink:Disease	mondo	DOID:0090003|DOID:0060600|SCTID:702439002|GARD:0001537|OMIM:218000|Orphanet:1496|UMLS:C0795950|ICD10:G60.0|MESH:C536446	ordo_disease	corpus callosum, agenesis of, with neuronopathy|hereditary motor and sensory neuropathy with agenesis of the corpus callosum|ACCPN|Charlevoix disease|corpus callosum agenesis-neuronopathy syndrome|peripheral neuropathy associated with agenesis of the corpus callosum|agenesis of the corpus callosum with peripheral neuropathy; ACCPN|agenesis of corpus callosum with neuronopathy|corpus callosum agenesis neuronopathy|HMSN/ACC|agenesis of corpus callosum with polyneuropathy|Andermann syndrome|agenesis of corpus callosum with peripheral neuropathy|agenesis of the corpus callosum with peripheral neuropathy|polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum	http://purl.obolibrary.org/obo/MONDO_0000902	Corpus callosum agenesis-neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and "autistic-like" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.	ORPHA:1496|UMLS:C0795950|MESH:C536446|DOID:0090003|SNOMEDCT:702439002|DOID:0060600|http://identifiers.org/omim/218000
MONDO:0000901	relapsed/refractory diffuse large B-cell lymphoma	biolink:Disease	mondo	DOID:0080192			http://purl.obolibrary.org/obo/MONDO_0000901	A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission.	DOID:0080192
UBERON:0008780	inner cell mass derived epiblast	biolink:AnatomicalEntity	mondo			embryonic epiblast	http://purl.obolibrary.org/obo/UBERON_0008780	An embryonic structure that is derived from the inner cell mass and lies above the hypoblast and gives rise to the three primary germ layers	
MONDO:0000900	obsolete PTEN hamartoma tumor syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000900		
MONDO:0000906	obsolete Alzheimer disease 5	biolink:Disease	mondo			obsolete Alzheimer's disease 5	http://purl.obolibrary.org/obo/MONDO_0000906		
UBERON:0008783	dorsal venous arch	biolink:AnatomicalEntity	mondo			arcus venosus dorsalis pedis|dorsal venous arch of foot|arcus venosus dorsalis pedis	http://purl.obolibrary.org/obo/UBERON_0008783	The dorsal venous arch of the foot is a superficial vein that connects the small saphenous vein and the great saphenous vein. Anatomically, it is defined by where the dorsal veins of the first and fifth digit, respectively, meet the great saphenous vein and small saphenous vein.	
UBERON:0008784	lower limb segment	biolink:AnatomicalEntity	mondo			free lower limb subdivision|subdivision of free lower limb|segment of free lower limb|free lower limb segment	http://purl.obolibrary.org/obo/UBERON_0008784	A limb segment that is part of a hindlimb.	
MONDO:0000905	obsolete cortisone reductase deficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000905		
UBERON:0006127	funiculus of spinal cord	biolink:AnatomicalEntity	mondo			spinal cord funiculus|white column of spinal cord	http://purl.obolibrary.org/obo/UBERON_0006127	A funiculus of neuraxis that is part of a spinal cord.	
UBERON:0008785	upper limb segment	biolink:AnatomicalEntity	mondo			free upper limb subdivision|subdivision of free upper limb|segment of free upper limb|free upper limb segment	http://purl.obolibrary.org/obo/UBERON_0008785	A limb segment that is part of a forelimb.	
MONDO:0000904	complex cortical dysplasia with other brain malformations	biolink:Disease	mondo	DOID:0090131|OMIMPS:614039|UMLS:CN228165		cortical dysplasia, complex, with other brain malformations|CDCBM	http://purl.obolibrary.org/obo/MONDO_0000904		DOID:0090131|UMLS:CN228165
MONDO:0000903	myoclonus-dystonia syndrome	biolink:Disease	mondo	ICD9:333.99|Orphanet:36899|GARD:0007139|DOID:0090033|ICD10:G24.1|UMLS:C1834570|SCTID:439732004|MESH:C536096		myoclonus-Dystonia|Hereditary essential myoclonus|dystonia, alcohol responsive|dystonia 11|dystonia 11, myoclonic|hereditary essential myoclonus|DYT11|myoclonic dystonia|myoclonus-dystonia|dystonia-11, myoclonic|alcohol-responsive dystonia|DYT-SGCE|dystonia with myoclonus|myoclonus-dystonia syndrome|myoclonus, hereditary essential|dystonia, alcohol-responsive	http://purl.obolibrary.org/obo/MONDO_0000903	Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.	MESH:C536096|DOID:0090033|ORPHA:36899|UMLS:C1834570|SNOMEDCT:439732004
GO:0004614	phosphoglucomutase activity	biolink:OntologyClass	mondo			glucose phosphomutase activity|phosphoglucose mutase activity|alpha-D-glucose 1,6-phosphomutase activity	http://purl.obolibrary.org/obo/GO_0004614	Catalysis of the reaction: alpha-D-glucose 1-phosphate = alpha-D-glucose 6-phosphate.	
MONDO:0000920	duodenum cancer	biolink:Disease	mondo	MESH:D004379|DOID:10021|SCTID:363403002|ICD10:C17.0|ICD9:152.0|NCIT:C9328		duodenum cancer|duodenal cancer|duodenal neoplasm|malignant duodenum neoplasm|malignant tumor of duodenum|malignant tumor of the duodenum|cancer of duodenum|malignant duodenal neoplasm|malignant neoplasm of duodenum|malignant duodenal tumor|malignant neoplasm of the duodenum	http://purl.obolibrary.org/obo/MONDO_0000920	A primary or metastatic malignant neoplasm that affects the duodenum. Representative examples include carcinoma, lymphoma, and sarcoma.	SNOMEDCT:363403002|DOID:10021|MESH:D004379|NCIT:C9328
MONDO:0000919	ampulla of vater cancer	biolink:Disease	mondo	UMLS:C0153454|ICD9:156.2|NCIT:C3536|ICD10:C24.1|DOID:10020|SCTID:363417006		malignant neoplasm of ampulla of Vater|cancer of hepatopancreatic ampulla|malignant ampulla of Vater tumor|malignant neoplasm of the ampulla of Vater|malignant hepatopancreatic ampulla neoplasm|malignant tumour of ampulla of vater|malignant ampulla of Vater neoplasm|malignant neoplasm of hepatopancreatic ampulla|malignant tumor of ampulla of Vater|malignant tumor of the ampulla of Vater|hepatopancreatic ampulla cancer	http://purl.obolibrary.org/obo/MONDO_0000919	A primary or metastatic malignant neoplasm involving the ampulla of Vater.	SNOMEDCT:363417006|DOID:10020|UMLS:C0153454|NCIT:C3536
MONDO:0000918	endometritis	biolink:Disease	mondo	EFO:1001312|DOID:1002|MESH:D004716|SCTID:78623009|UMLS:C0014179|NCIT:C26764		uterine infection|inflammation of endometrium|endometrium inflammation	http://purl.obolibrary.org/obo/MONDO_0000918	An acute or chronic, usually bacterial infectious process affecting the endometrium. It may extend to the myometrium and parametrial tissues. Symptoms include lower abdominal pain, vaginal discharge, and vaginal bleeding.	SNOMEDCT:78623009|DOID:1002|NCIT:C26764|MESH:D004716|UMLS:C0014179
MONDO:0000913	hereditary spherocytosis type 2	biolink:Disease	mondo	UMLS:C2674219|DOID:0110917|OMIM:616649		spherocytosis, hereditary, 2|hereditary spherocytosis type 2|spherocytosis, type 2|SPTB hereditary spherocytosis|HS2|SPH2|hereditary spherocytosis 2|spherocytosis, type 2; SPH2|hereditary spherocytosis caused by mutation in SPTB	http://purl.obolibrary.org/obo/MONDO_0000913	Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTB gene.	UMLS:C2674219|DOID:0110917|http://identifiers.org/omim/616649
MONDO:0000912	autosomal recessive nonsyndromic deafness 5	biolink:Disease	mondo	UMLS:C1833319|ICD10:H90.3|OMIM:600792|DOID:0110507|MESH:C563444		neurosensory nonsyndromic recessive deafness 5|DFNB5|autosomal recessive deafness 5|autosomal recessive nonsyndromic deafness type 5|deafness, autosomal recessive 5|deafness, autosomal recessive 5; DFNB5	http://purl.obolibrary.org/obo/MONDO_0000912	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 14q12.	DOID:0110507|MESH:C563444|UMLS:C1833319|http://identifiers.org/omim/600792
MONDO:0000911	obsolete dilated cardiomyopathy 1T	biolink:Disease	mondo	OMIM:613740|MESH:C566052|DOID:0110452|UMLS:C3151039		moved to 115200|cardiomyopathy, dilated, 1T|cardiomyopathy, dilated, 1T; CMD1T|familial isolated dilated cardiomyopathy caused by mutation in TMPO|cardiomyopathy, dilated, type 1T|CMD1T|TMPO familial isolated dilated cardiomyopathy|dilated cardiomyopathy type 1T	http://purl.obolibrary.org/obo/MONDO_0000911	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TMPO gene.	DOID:0110452|http://identifiers.org/omim/613740|MESH:C566052|UMLS:C3151039
MONDO:0000910	retinitis pigmentosa 6	biolink:Disease	mondo	MESH:C564065|DOID:0110413|UMLS:C1839368|OMIM:312612|ICD10:H35.5|GARD:0010377	gard_rare	retinitis pigmentosa type 6|retinitis pigmentosa 6|RP 6|retinitis pigmentosa, X-linked recessive, 6|retinitis pigmentosa 6; RP6|RP6	http://purl.obolibrary.org/obo/MONDO_0000910	A retinitis pigmentosa that has material basis in variation in the chromosome region Xp21.3-p21.2.	MESH:C564065|DOID:0110413|http://identifiers.org/omim/312612|UMLS:C1839368
MONDO:0000917	obsolete thyroid lymphoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000917		
UBERON:0008772	proximal epiphysis of tibia	biolink:AnatomicalEntity	mondo			upper end of tibia|head of tibia|proximal end of tibia|proximal tibial epiphysis	http://purl.obolibrary.org/obo/UBERON_0008772	A proximal epiphysis that is part of a tibia.	
MONDO:0000916	intestinal infectious disease	biolink:Disease	mondo	ICD9:008.8|ICD10:A00-A09|ICD9:001-009.99|UMLS:C0152516|DOID:100|ICD10:A00.A09|SCTID:266071000|UMLS:C0178238|COHD:198678		bacterial enteritis	http://purl.obolibrary.org/obo/MONDO_0000916	An infectious disease involving a pathogenic inflammatory response in the intestinal mucosa.	DOID:100|UMLS:C0178238|UMLS:C0152516|SNOMEDCT:266071000
GO:0004619	phosphoglycerate mutase activity	biolink:OntologyClass	mondo			phosphoglycerate phosphomutase activity|PGA mutase activity|diphosphoglycomutase|phosphoglyceromutase activity|GriP mutase|monophosphoglyceromutase activity|D-phosphoglycerate 2,3-phosphomutase activity|PGAM activity|bisphosphoglyceromutase|PGM|MPGM|monophosphoglycerate mutase activity	http://purl.obolibrary.org/obo/GO_0004619	Catalysis of the reaction: 2-phospho-D-glycerate = 3-phospho-D-glycerate.	
MONDO:0000915		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000915		
GO:0004618	phosphoglycerate kinase activity	biolink:OntologyClass	mondo			3-phosphoglyceric acid kinase activity|ATP:D-3-phosphoglycerate 1-phosphotransferase activity|3-phosphoglycerate kinase activity|phosphoglyceric kinase activity|3-phosphoglycerate phosphokinase activity|3-phosphoglyceric acid phosphokinase activity|ATP:3-phospho-D-glycerate 1-phosphotransferase activity|3-PGK|ATP-3-phospho-D-glycerate-1-phosphotransferase activity|phosphoglyceric acid kinase activity|glycerophosphate kinase activity|glycerate 3-phosphate kinase activity|phosphoglycerokinase activity|PGK|3-phosphoglyceric kinase activity	http://purl.obolibrary.org/obo/GO_0004618	Catalysis of the reaction: 3-phospho-D-glycerate + ATP = 3-phospho-D-glyceroyl phosphate + ADP + H(+).	
UBERON:0008775	proximal epiphysis of fibula	biolink:AnatomicalEntity	mondo			fibular head|head of fibula|upper end of fibula|caput fibulae|proximal end of fibula	http://purl.obolibrary.org/obo/UBERON_0008775	A proximal epiphysis that is part of a fibula.	
MONDO:0000914	cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	biolink:Disease	mondo	UMLS:C0751587|OMIM:125310|ICD10:F01.1|DOID:0111035|MESH:D046589|GARD:0001049|NCIT:C84606|Orphanet:136|SCTID:390936003|MedDRA:10065551		CASIL|CADASIL syndrome|familial vascular leukoencephalopathy|autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1|CADASIL type 1|cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; CADASIL1|hereditary multi-infarct dementia|CADASIL|CADASIL 1|CADASIL1|cerebral arteriopathy with subcortical infarcts and leukoencephalopathy|cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy|dementia, hereditary multi-infarct type|cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	http://purl.obolibrary.org/obo/MONDO_0000914	A CADASIL characterized by migraine, strokes, and white matter lesions that has material basis in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.	ORPHA:136|DOID:0111035|UMLS:C0751587|MESH:D046589|SNOMEDCT:390936003|NCIT:C84606|MEDDRA:10065551|http://identifiers.org/omim/125310
HGNC:6973	MDM2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6973		
HGNC:4315	GLE1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4315		
HGNC:4313	GLDC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4313		
HGNC:4312	GCLM	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4312		
HGNC:4311	GCLC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4311		
HGNC:6971	MDH2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6971		
HGNC:4319	GLI3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4319		
HGNC:4318	GLI2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4318		
GO:2000214	regulation of proline metabolic process	biolink:OntologyClass	mondo			regulation of proline metabolism	http://purl.obolibrary.org/obo/GO_2000214	Any process that modulates the frequency, rate or extent of proline metabolic process.	
GO:2000215	negative regulation of proline metabolic process	biolink:OntologyClass	mondo			negative regulation of proline metabolism	http://purl.obolibrary.org/obo/GO_2000215	Any process that stops, prevents, or reduces the frequency, rate or extent of proline metabolic process.	
GO:2000216	positive regulation of proline metabolic process	biolink:OntologyClass	mondo			positive regulation of proline metabolism	http://purl.obolibrary.org/obo/GO_2000216	Any process that activates or increases the frequency, rate or extent of proline metabolic process.	
HGNC:4326	GLRA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4326		
HGNC:21082	SEC63	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21082		
HP:0001328	Specific learning disability	biolink:PhenotypicFeature	mondo	UMLS:C4025790			http://purl.obolibrary.org/obo/HP_0001328	Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.	
HGNC:21086	MIB1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21086		
HP:0001322	obsolete Brain very small	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0001322		
HP:0001320	Cerebellar vermis hypoplasia	biolink:PhenotypicFeature	mondo	UMLS:C1840379		Hypoplastic cerebellar vermis|Cerebellar vermal hypoplasia|Hypoplasia of the cerebellar vermis	http://purl.obolibrary.org/obo/HP_0001320	Underdevelopment of the vermis of cerebellum.	
GO:0014046	dopamine secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0014046	The regulated release of dopamine by a cell. Dopamine is a catecholamine and a precursor of adrenaline and noradrenaline. It acts as a neurotransmitter in the central nervous system but it is also produced peripherally and acts as a hormone.	
FOODON:03510019	cattle as consumer	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03510019		
HP:0001324	Muscle weakness	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:26544005|MSH:D018908|UMLS:C0151786		Muscular weakness|Muscle weakness	http://purl.obolibrary.org/obo/HP_0001324	Reduced strength of muscles.	
HP:0001339	Lissencephaly	biolink:PhenotypicFeature	mondo	UMLS:C0266463|MSH:D054082|SNOMEDCT_US:204036008|UMLS:C1879312		Fewer or absent grooves in brain	http://purl.obolibrary.org/obo/HP_0001339	A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.	
MONDO:0022293	vascular disorder of penis	biolink:Disease	mondo	MEDGEN:102349|UMLS:C0156307|SCTID:198029003|NCIT:C35218|ICD9:607.82		Penis vascular disorder|Vascular disorder of penis|penile vascular disorder|Penile Vascular Disorder|Penile vascular disorder	http://purl.obolibrary.org/obo/MONDO_0022293	A non-neoplastic or neoplastic disorder that affects the blood vessels of the penis. Representative examples include atherosclerosis, venous leak, and hemangioma.	UMLS:C0156307|SNOMEDCT:198029003|NCIT:C35218
GO:0014059	regulation of dopamine secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0014059	Any process that modulates the frequency, rate or extent of the regulated release of dopamine.	
HP:0001331	Absent septum pellucidum	biolink:PhenotypicFeature	mondo	MSH:C535562|UMLS:C0431371|SNOMEDCT_US:253143001		Agenesis of the septum pellucidum|Missing septum pellucidum|Absence of the septum pellucidum|Absence of septum pellucidum	http://purl.obolibrary.org/obo/HP_0001331	Absence of the septum pellucidum.	
HP:0001336	Myoclonus	biolink:PhenotypicFeature	mondo	UMLS:C1854302|SNOMEDCT_US:127324008|UMLS:C0027066|SNOMEDCT_US:17450006|MSH:D009207		Jerking|Involuntary jerking movements|Myoclonic jerks	http://purl.obolibrary.org/obo/HP_0001336	Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.	
HP:0001337	Tremor	biolink:PhenotypicFeature	mondo	UMLS:C0040822|MSH:D014202|SNOMEDCT_US:26079004		Tremor|Tremors	http://purl.obolibrary.org/obo/HP_0001337	An unintentional, oscillating to-and-fro muscle movement about a joint axis.	
FOODON:03510021	animal as food consumer	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03510021		
HGNC:33067	SNORD116-1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/33067		
HGNC:21062	FARS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21062		
HP:0001305	Dandy-Walker malformation	biolink:PhenotypicFeature	mondo	UMLS:C0010964|MSH:D003616|SNOMEDCT_US:14447001		Dandy-walker anomaly|Dandy-Walker cyst	http://purl.obolibrary.org/obo/HP_0001305	A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.	
HGNC:21061	SERAC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21061		
HP:0001300	Parkinsonism	biolink:PhenotypicFeature	mondo	UMLS:C0242422|MSH:D020734|SNOMEDCT_US:32798002		Parkinsonian disease	http://purl.obolibrary.org/obo/HP_0001300	Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.	
GO:0016684	oxidoreductase activity, acting on peroxide as acceptor	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016684	Catalysis of an oxidation-reduction (redox) reaction in which the peroxide group acts as a hydrogen or electron acceptor.	
GO:0014020	primary neural tube formation	biolink:OntologyClass	mondo			primary neurulation|primary neural tube morphogenesis	http://purl.obolibrary.org/obo/GO_0014020	The formation of the neural tube from an epithelial cell sheet (the neuroepithelium or neural plate). In primary neurulation, the cells surrounding the neural plate direct the neural plate cells to proliferate, invaginate, and pinch off from the surface to form a hollow epithelial tube. Primary neurulation is the typical mechanism of formation of the anterior neural tube.	
HGNC:21071	IYD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21071		
HP:0001317	Abnormal cerebellum morphology	biolink:PhenotypicFeature	mondo	UMLS:C1866129|UMLS:C0742038		Cerebellar signs|Cerebellar abnormality|Abnormality of the cerebellum|Cerebellar abnormalities|Cerebellar anomaly	http://purl.obolibrary.org/obo/HP_0001317	Any structural abnormality of the cerebellum.	
MONDO:0010297	FG syndrome 2	biolink:Disease	mondo	GARD:0009923|UMLS:C1845902|OMIM:300321	gard_rare	FGS2|FG syndrome caused by mutation in FLNA|FG syndrome 2; FGS2|FG syndrome type 2|FG syndrome 2|FLNA FG syndrome	http://purl.obolibrary.org/obo/MONDO_0010297	Any FG syndrome in which the cause of the disease is a mutation in the FLNA gene.	UMLS:C1845902|http://identifiers.org/omim/300321
MONDO:0010296	AGMX2	biolink:Disease	mondo	OMIM:300310|UMLS:C1845903|MESH:C538057|GARD:0010007		XLA2|AGMX2|agammaglobulinemia, X-linked, type 2|agammaglobulinemia X-linked type 2|agammaglobulinemia, X-linked, type 2; AGMX2	http://purl.obolibrary.org/obo/MONDO_0010296		UMLS:C1845903|http://identifiers.org/omim/300310|MESH:C538057
MONDO:0010299	hypoxanthine guanine phosphoribosyltransferase partial deficiency	biolink:Disease	mondo	SCTID:238007004|UMLS:C0268117|MESH:C562583|Orphanet:79233|ICD10:E79.8|OMIM:300323|ICD9:277.2	ordo_disease	HPRT-related gout|HPRT partial deficiency|HPRT deficiency, partial|HPRT deficiency, grade I|HPRT-related hyperuricemia|Hprt1 deficiency, partial|hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency|KELLEY-Seegmiller syndrome|Kelley-Seegmiller syndrome|gout, HPRT-related|hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial|HPRT1 partial deficiency|hypoxanthine guanine phosphoribosyltransferase deficiency, grade I	http://purl.obolibrary.org/obo/MONDO_0010299	Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout.	ORPHA:79233|SNOMEDCT:238007004|MESH:C562583|UMLS:C0268117|http://identifiers.org/omim/300323
MONDO:0010298	Lesch-Nyhan syndrome	biolink:Disease	mondo	Orphanet:510|ICD10:E79.1|UMLS:C0023374|DOID:1919|NCIT:C61255|MESH:D007926|UMLS:CN205196|GARD:0007226|OMIM:300322|ICD9:277.2|MedDRA:10057589|SCTID:10406007	ordo_disease	hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome])|Lesch Nyhan disease|HPRT deficiency, complete|complete hypoxanthine-guanine phosphoribosyltransferase deficiency|HPRT deficiency, neurologic variant|hypoxanthine guanine phosphoribosyltransferase 1 deficiency|X-linked hyperuricemia|hypoxanthine guanine phosphoribosyltransferase complete deficiency|hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) [ambiguous]|hypoxanthine-guanine phosphoribosyltransferase deficiency|Lesch-Nyhan syndrome; LNS|HPRT complete deficiency|deficiency of IMP pyrophosphorylase|hypoxanthine guanine phosphoribosyltransferase deficiency|X-linked hyperuricemia (disorder) [ambiguous]|LNS|hypoxanthine-guanine-phosphoribosyltransferase deficiency|Lesch - Nyhan syndrome|Lesch-Nyhan syndrome|HPRT deficiency grade IV|hypoxanthine guanine phospho-ribosyltransferase 1 deficiency|hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV|Hprt1 deficiency|Lesch-Nyhan syndrome, neurologic variant|HG-PRT deficiency|HPRT deficiency|Lesch Nyhan syndrome	http://purl.obolibrary.org/obo/MONDO_0010298	Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.	ORPHA:510|SNOMEDCT:10406007|UMLS:C0023374|NCIT:C61255|MESH:D007926|MEDDRA:10057589|UMLS:CN205196|DOID:1919|http://identifiers.org/omim/300322
MONDO:0010291	obsolete androgen insensitivity syndrome due to coactivator deficiency	biolink:Disease	mondo			androgen insensitivity syndrome due to coactivator deficiency	http://purl.obolibrary.org/obo/MONDO_0010291		
MONDO:0010290	MNG2	biolink:Disease	mondo	OMIM:300273|MESH:C564546|UMLS:C1846033		goiter, multinodular 2|MNG2|goiter, multinodular 2; MNG2	http://purl.obolibrary.org/obo/MONDO_0010290		MESH:C564546|UMLS:C1846033|http://identifiers.org/omim/300273
MONDO:0010293	hypohidrotic ectodermal dysplasia with immunodeficiency	biolink:Disease	mondo	GARD:0009936|UMLS:C1846006|ICD10:D82.8|SCTID:703525006|OMIMPS:300291|NCIT:C118844|Orphanet:98813	ordo_clinical_subtype	ectodermal dysplasia, anhidrotic, with immune deficiency|hypohidrotic ectodermal dysplasia with immune deficiency|Xhm-Ed|anhidrotic ectodermal dysplasia with immune deficiency|hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia|EDA-ID|ectodermal dysplasia, hypohidrotic, with immune deficiency|anhidrotic ectodermal dysplasia with immunodeficiency|HED-ID	http://purl.obolibrary.org/obo/MONDO_0010293		ORPHA:98813|UMLS:C1846006|SNOMEDCT:703525006|NCIT:C118844
MONDO:0010292	Uruguay Faciocardiomusculoskeletal syndrome	biolink:Disease	mondo	OMIM:300280|UMLS:C1846010|MESH:C564544		Uruguay Faciocardiomusculoskeletal syndrome|faciocardiomusculoskeletal syndrome, Uruguay type|FCMSU|URUGUAY FACIOCARDIOMUSCULOSKELETAL syndrome; FCMSU|Fcms	http://purl.obolibrary.org/obo/MONDO_0010292		MESH:C564544|UMLS:C1846010|http://identifiers.org/omim/300280
GO:0014033	neural crest cell differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0014033	The process in which a relatively unspecialized cell acquires specialized features of a neural crest cell.	
MONDO:0010295	anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome	biolink:Disease	mondo	SCTID:720986005|Orphanet:69088|OMIM:300301|MESH:C564538|ICD10:Q78.2	ordo_disease	ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema; OLEDAID|ol-EDA-ID|ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema|OLEDAID	http://purl.obolibrary.org/obo/MONDO_0010295	This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.	MESH:C564538|SNOMEDCT:720986005|http://identifiers.org/omim/300301|ORPHA:69088
GO:0014032	neural crest cell development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0014032	The process aimed at the progression of a neural crest cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell.	
MONDO:0010294	X-linked severe congenital neutropenia	biolink:Disease	mondo	UMLS:C1845987|SCTID:718882006|ICD10:D70|GARD:0003981|Orphanet:86788|MESH:C564539|OMIM:300299	gard_rare|ordo_disease	neutropenia, severe congenital, X-linked|Xln|severe congenital neutropenia X-linked|severe congenital neutropenia, X-linked|neutropenia, severe congenital, X-linked; SCNX|SCNX	http://purl.obolibrary.org/obo/MONDO_0010294	This syndrome is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein.	UMLS:C1845987|ORPHA:86788|MESH:C564539|http://identifiers.org/omim/300299|SNOMEDCT:718882006
GO:0014031	mesenchymal cell development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0014031	The process aimed at the progression of a mesenchymal cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell.	
GO:0004689	phosphorylase kinase activity	biolink:OntologyClass	mondo			glycogen phosphorylase kinase activity|ATP:phosphorylase-b phosphotransferase activity|PHK|phosphorylase kinase, intrinsic catalyst activity|STK17|dephosphophosphorylase kinase activity|phosphorylase kinase (phosphorylating) activity|phosphorylase B kinase activity	http://purl.obolibrary.org/obo/GO_0004689	Catalysis of the reaction: 4 ATP + 2 phosphorylase b = 4 ADP + phosphorylase a.	
GO:0004683	calmodulin-dependent protein kinase activity	biolink:OntologyClass	mondo			caldesmon kinase (phosphorylating) activity|multifunctional calcium/calmodulin regulated protein kinase activity|microtubule-associated protein 2 kinase activity|multifunctional calcium- and calmodulin-regulated protein kinase activity|Ca2+/calmodulin-dependent protein kinase IV activity|Ca2+/calmodulin-dependent protein kinase 1 activity|calmodulin-dependent protein kinase I activity|ATP:protein phosphotransferase (Ca2+/calmodulin-dependent) activity|calmodulin regulated protein kinase activity|Ca2+/calmodulin-dependent protein kinase II activity|CaMKKbeta|CaMKKalpha|calcium- and calmodulin-dependent protein kinase activity|CaM kinase II activity|Ca2+/calmodulin-dependent protein kinase kinase activity|CaMKI|CaMKII|CAM PKII|CaM kinase activity|calmodulin-dependent kinase II activity|ATP:caldesmon O-phosphotransferase activity|Ca2+/CaM-dependent kinase activity|calcium/calmodulin-dependent protein kinase type II activity|CaMKIV|Ca2+/calmodulin-dependent protein kinase activity|STK20|CaM-regulated serine/threonine kinase activity|Ca2+/calmodulin-dependent protein kinase kinase beta activity|calcium/calmodulin-dependent protein kinase activity|Ca2+/calmodulin-dependent microtubule-associated protein 2 kinase activity	http://purl.obolibrary.org/obo/GO_0004683	Calmodulin-dependent catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; and ATP + a protein threonine = ADP + protein threonine phosphate.	
HGNC:21042	NUS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21042		
HGNC:21043	PITPNM3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21043		
HP:0001369	Arthritis	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:3723001|MSH:D001168|UMLS:C0003864		Joint inflammation|Arthritis	http://purl.obolibrary.org/obo/HP_0001369	Inflammation of a joint.	
HP:0025337	Red eye	biolink:PhenotypicFeature	mondo			Red eyes|Red eye	http://purl.obolibrary.org/obo/HP_0025337	A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera.	
HP:0001367	Abnormal joint morphology	biolink:PhenotypicFeature	mondo	UMLS:C0240083|UMLS:C0022408|MSH:D007592|SNOMEDCT_US:399269003		Abnormal shape of joints|Abnormality of the joints|Anomaly of the joints|Joint disease	http://purl.obolibrary.org/obo/HP_0001367	An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.	
GO:0016667	oxidoreductase activity, acting on a sulfur group of donors	biolink:OntologyClass	mondo			oxidoreductase activity, acting on sulfur group of donors, other acceptors|oxidoreductase activity, acting on sulphur group of donors	http://purl.obolibrary.org/obo/GO_0016667	Catalysis of an oxidation-reduction (redox) reaction in which a sulfur-containing group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor.	
HGNC:21057	RSPH9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21057		
HGNC:21056	ERMARD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21056		
HGNC:21050	CDKAL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21050		
HGNC:21054	RSPH3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21054		
HP:0001376	Limitation of joint mobility	biolink:PhenotypicFeature	mondo	UMLS:C1857108		Decreased joint mobility|Decreased mobility of joints|Limited joint mobility|Limitation of joint mobility|Limited joint motion	http://purl.obolibrary.org/obo/HP_0001376	A reduction in the freedom of movement of one or more joints.	
GO:2000272	negative regulation of signaling receptor activity	biolink:OntologyClass	mondo			negative regulation of signalling receptor activity|negative regulation of receptor activity	http://purl.obolibrary.org/obo/GO_2000272	Any process that stops, prevents or reduces the frequency, rate or extent of a signaling receptor activity.	
GO:2000273	positive regulation of signaling receptor activity	biolink:OntologyClass	mondo			positive regulation of signalling receptor activity	http://purl.obolibrary.org/obo/GO_2000273	Any process that activates or increases the frequency, rate or extent of signaling receptor activity.	
HGNC:33020	SNORD115-1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/33020		
HP:0001373	Joint dislocation	biolink:PhenotypicFeature	mondo	MSH:D004204|SNOMEDCT_US:108367008|UMLS:C0012691|SNOMEDCT_US:87642003		Joint dislocations|Recurrent joint dislocations|Joint dislocation	http://purl.obolibrary.org/obo/HP_0001373	Displacement or malalignment of joints.	
CHEBI:137982	tertiary ammonium ion	biolink:ChemicalSubstance	mondo			tertiary amine(1+)|tertiary ammonium ions|a tertiary amine	http://purl.obolibrary.org/obo/CHEBI_137982	An organic cation obtained by protonation of the amino group of any tertiary amino compound.	
HP:0001370	Rheumatoid arthritis	biolink:PhenotypicFeature	mondo	UMLS:C0003873|SNOMEDCT_US:69896004|MSH:D001172		RA|Rheumatoid arthritis	http://purl.obolibrary.org/obo/HP_0001370	Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures.	
HP:0001371	Flexion contracture	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:203598005|UMLS:C0009918|UMLS:C0009917|SNOMEDCT_US:57048009|MSH:D003286|UMLS:C1850530|SNOMEDCT_US:55033002|UMLS:C0333068|SNOMEDCT_US:7890003|SNOMEDCT_US:88565003|SNOMEDCT_US:385522000		Joint contracture|Flexion contractures of joints|Flexion contractures|Contractures|Contracture|Flexed joint that cannot be straightened|Joint contractures	http://purl.obolibrary.org/obo/HP_0001371	A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.	
GO:0016670	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor	biolink:OntologyClass	mondo			oxidoreductase activity, acting on sulphur group of donors, oxygen as acceptor	http://purl.obolibrary.org/obo/GO_0016670	Catalysis of an oxidation-reduction (redox) reaction in which a sulfur-containing group acts as a hydrogen or electron donor and reduces oxygen.	
CHEBI:137980	metalloid atom	biolink:ChemicalSubstance	mondo			metalloids|metalloid	http://purl.obolibrary.org/obo/CHEBI_137980	An atom of an element that exhibits properties that are between those of metals and nonmetals, or that has a mixture of them. The term generally includes boron, silicon, germanium, arsenic, antimony, and tellurium, while carbon, aluminium, selenium, polonium, and astatine are less commonly included.	
HGNC:21024	CUL7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21024		
HGNC:21022	AARS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21022		
GO:2000283	negative regulation of cellular amino acid biosynthetic process	biolink:OntologyClass	mondo			negative regulation of cellular amino acid anabolism|negative regulation of amino acid biosynthetic process|negative regulation of cellular amino acid synthesis|negative regulation of cellular amino acid formation|negative regulation of cellular amino acid biosynthesis	http://purl.obolibrary.org/obo/GO_2000283	Any process that stops, prevents or reduces the frequency, rate or extent of cellular amino acid biosynthetic process.	
GO:0016646	oxidoreductase activity, acting on the CH-NH group of donors, NAD or NADP as acceptor	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016646	Catalysis of an oxidation-reduction (redox) reaction in which a CH-NH group acts as a hydrogen or electron donor and reduces NAD or NADP.	
GO:2000284	positive regulation of cellular amino acid biosynthetic process	biolink:OntologyClass	mondo			positive regulation of amino acid biosynthetic process|positive regulation of cellular amino acid anabolism|positive regulation of cellular amino acid biosynthesis|positive regulation of cellular amino acid synthesis|positive regulation of cellular amino acid formation	http://purl.obolibrary.org/obo/GO_2000284	Any process that activates or increases the frequency, rate or extent of cellular amino acid biosynthetic process.	
GO:0016645	oxidoreductase activity, acting on the CH-NH group of donors	biolink:OntologyClass	mondo			oxidoreductase activity, acting on the CH-NH group of donors, other acceptors	http://purl.obolibrary.org/obo/GO_0016645	Catalysis of an oxidation-reduction (redox) reaction in which a CH-NH group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor.	
GO:0002009	morphogenesis of an epithelium	biolink:OntologyClass	mondo			epithelium morphogenesis	http://purl.obolibrary.org/obo/GO_0002009	The process in which the anatomical structures of epithelia are generated and organized. An epithelium consists of closely packed cells arranged in one or more layers, that covers the outer surfaces of the body or lines any internal cavity or tube.	
GO:2000282	regulation of cellular amino acid biosynthetic process	biolink:OntologyClass	mondo			regulation of cellular amino acid formation|regulation of amino acid biosynthetic process|regulation of cellular amino acid biosynthesis|regulation of cellular amino acid anabolism|regulation of cellular amino acid synthesis	http://purl.obolibrary.org/obo/GO_2000282	Any process that modulates the frequency, rate or extent of cellular amino acid biosynthetic process.	
HGNC:21034	NDUFAF4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21034		
GO:0004674	protein serine/threonine kinase activity	biolink:OntologyClass	mondo			protein serine kinase activity|protein-serine kinase activity|threonine-specific protein kinase activity|protein kinase (phosphorylating) activity|serine/threonine protein kinase activity|serine protein kinase activity|protein phosphokinase activity|serine-specific protein kinase activity|serine(threonine) protein kinase activity|serine kinase activity|protein serine-threonine kinase activity	http://purl.obolibrary.org/obo/GO_0004674	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.	
GO:0004672	protein kinase activity	biolink:OntologyClass	mondo			protamine kinase activity	http://purl.obolibrary.org/obo/GO_0004672	Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP.	
HGNC:21033	HACE1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21033		
GO:2000294	positive regulation of defecation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000294	Any process that activates or increases the frequency, rate or extent of defecation.	
HGNC:6901	MASP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6901		
HGNC:6902	MASP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6902		
GO:0016651	oxidoreductase activity, acting on NAD(P)H	biolink:OntologyClass	mondo			oxidoreductase activity, acting on NADH or NADPH|NAD(P)H dehydrogenase|oxidoreductase activity, acting on NADH or NADPH, other acceptor	http://purl.obolibrary.org/obo/GO_0016651	Catalysis of an oxidation-reduction (redox) reaction in which NADH or NADPH acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor.	
GO:2000292	regulation of defecation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000292	Any process that modulates the frequency, rate or extent of defecation.	
GO:2000293	negative regulation of defecation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000293	Any process that stops, prevents or reduces the frequency, rate or extent of defecation.	
MONDO:0000795	penicillin allergy	biolink:Disease	mondo	NCIT:C34911|SCTID:91936005|ICD9:995.27|UMLS:C0030824|ICD9:V14.0|DOID:0060520		penicillin allergic disease|allergy of penicillin	http://purl.obolibrary.org/obo/MONDO_0000795	An allergy to Penicillin.	UMLS:C0030824|NCIT:C34911|SNOMEDCT:91936005|DOID:0060520
MONDO:0000794	beta-lactam allergy	biolink:Disease	mondo	DOID:0060519		allergy of beta-lactam|beta-lactam allergic disease	http://purl.obolibrary.org/obo/MONDO_0000794	A allergy involving a beta-lactam.	DOID:0060519
MONDO:0000793	rainbow trout allergy	biolink:Disease	mondo	DOID:0060518		Oncorhynchus mykiss allergy|Oncorhynchus mykiss caused allergic disease|allergy of Oncorhynchus mykiss|Oncorhynchus mykiss allergic disease	http://purl.obolibrary.org/obo/MONDO_0000793	A allergy involving a Oncorhynchus mykiss.	DOID:0060518
MONDO:0000792	obsolete zebrafish allergy	biolink:Disease	mondo	DOID:0060517			http://purl.obolibrary.org/obo/MONDO_0000792		DOID:0060517
HGNC:23785	PIKFYVE	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23785		
MONDO:0000799	crustacean allergy	biolink:Disease	mondo	DOID:0060524		allergy of crustacean food product|crustacean food product allergic disease	http://purl.obolibrary.org/obo/MONDO_0000799	A allergic disease involving a crustacean food product.	DOID:0060524
MONDO:0022103	chronic prostatitis	biolink:Disease	mondo	SCTID:19905009|UMLS:C0085696|NCIT:C26930|ICD9:601.1		Chronic prostatitis|chronic prostatitis|Chronic Prostatitis	http://purl.obolibrary.org/obo/MONDO_0022103	An infectious or non-infectious chronic inflammatory process that affects the prostate gland.	NCIT:C26930|SNOMEDCT:19905009|UMLS:C0085696
MONDO:0000798	mollusc allergy	biolink:Disease	mondo	DOID:0060523		mollusc food product allergic disease|allergy of mollusc food product	http://purl.obolibrary.org/obo/MONDO_0000798	A allergic disease involving a mollusc food product.	DOID:0060523
MONDO:0000797	goat milk allergy	biolink:Disease	mondo	DOID:0060522		Capra hircus milk allergy|allergy of goat dairy food product|goat dairy food product allergic disease	http://purl.obolibrary.org/obo/MONDO_0000797	A allergy involving goat milk.	DOID:0060522
MONDO:0000796	cow milk allergy (disease)	biolink:Disease	mondo	DOID:0060521|HP:0100327		cow milk allergy|Bos taurus milk allergy|cow milk based food product allergic disease|allergy of cow milk based food product	http://purl.obolibrary.org/obo/MONDO_0000796	A allergy involving cow mile.	DOID:0060521
MONDO:0009129	dwarfism, proportionate, with hip dislocation	biolink:Disease	mondo	OMIM:223550|UMLS:C1857196|GARD:0010606|MESH:C565614	gard_rare	dwarfism, proportionate with hip dislocation|dwarfism, proportionate, with hip dislocation	http://purl.obolibrary.org/obo/MONDO_0009129		MESH:C565614|http://identifiers.org/omim/223550|UMLS:C1857196
HP:0001967	Diffuse mesangial sclerosis	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:111406002|UMLS:C0268747|MSH:C537346		Diffuse mesangial sclerosis glomerulopathy|Mesangial sclerosis	http://purl.obolibrary.org/obo/HP_0001967	Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion.	
MONDO:0010118	Threoninemia	biolink:Disease	mondo	OMIM:273770		hyperthreoninemia|Threoninemia	http://purl.obolibrary.org/obo/MONDO_0010118		http://identifiers.org/omim/273770
MONDO:0009128	dwarfism, mental retardation, and eye abnormality	biolink:Disease	mondo	UMLS:C0796076|OMIM:223540|MESH:C535809|Orphanet:2650		dwarfism, intellectual disability, and eye abnormality|dwarfism, mental retardation, and eye abnormality|Mollica syndrome	http://purl.obolibrary.org/obo/MONDO_0009128		ORPHA:2650|MESH:C535809|http://identifiers.org/omim/223540|UMLS:C0796076
MONDO:0010117	3M syndrome 1	biolink:Disease	mondo	OMIM:273750		three M syndrome 1; 3M1|Dolichospondylic dysplasia|3M syndrome|3-M syndrome caused by mutation in CUL7|three M syndrome 1|3-M syndrome caused by mutation in Cul7|Le Merrer syndrome|gloomy face syndrome|3M1|CUL7 3-M syndrome|Cul7 3-M syndrome|Yakut short stature syndrome|three M syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0010117	Any 3-M syndrome in which the cause of the disease is a mutation in the CUL7 gene.	http://identifiers.org/omim/273750
MONDO:0009127	dwarfism, low-birth-weight type, with unresponsiveness to growth hormone	biolink:Disease	mondo	UMLS:C1857197|MESH:C565615|GARD:0003293|OMIM:223500	gard_rare	dwarfism, low-birth-weight type, with unresponsiveness to growth hormone|dwarfism, low-birth-weight type with unresponsiveness to growth hormone	http://purl.obolibrary.org/obo/MONDO_0009127		MESH:C565615|http://identifiers.org/omim/223500|UMLS:C1857197
HP:0001965	Abnormal scalp morphology	biolink:PhenotypicFeature	mondo	UMLS:C4025734		Anomaly of scalp|Abnormality of the scalp	http://purl.obolibrary.org/obo/HP_0001965	Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows.	
MONDO:0012779	CELIAC10	biolink:Disease	mondo	OMIM:612008	predisposition	celiac disease, susceptibility to, 10; CELIAC10|celiac disease, susceptibility to, 10|gluten-sensitive enteropathy, susceptibility to, 10|CELIAC10	http://purl.obolibrary.org/obo/MONDO_0012779		http://identifiers.org/omim/612008
MONDO:0010119	Glanzmann's thrombasthenia	biolink:Disease	mondo	SCTID:32942005|Orphanet:849|GARD:0002478|NCIT:C61249|OMIM:273800|ICD10:D69.1|MESH:D013915|DOID:2219	ordo_disease	deficiency of GP IIb-IIIa complex|Glanzmann thrombasthenia; GT|Platelet fibrinogen receptor, deficiency of|Glanzmann thrombasthenia|thrombasthenia|GP IIb-IIIa Complex, deficiency of|platelet glycoprotein IIb-IIIa deficiency|Diacyclothrombopathia 2B 3A|Thrombocytasthenia|glycoprotein Complex IIb-IIIa, deficiency of|Platelet glycoprotein 2B 3A deficiency|glycoprotein IIb/IIIa defect|deficiency of glycoprotein complex IIb-IIIa|bleeding disorder, Platelet-type, 2|BDPLT2|platelet-type bleeding disorder 2|Glanzmann thrombasthenia type A|GT|deficiency of GP 2B 3A complex|deficiency of platelet fibrinogen receptor|thrombasthenia of Glanzmann and Naegeli|Platelet glycoprotein IIb-IIIa deficiency	http://purl.obolibrary.org/obo/MONDO_0010119	Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia.	ORPHA:849|http://identifiers.org/omim/273800|NCIT:C61249|DOID:2219|SNOMEDCT:32942005|MESH:D013915
MONDO:0009126	duodenal atresia (disease)	biolink:Disease	mondo	OMIM:223400|Orphanet:1203|SCTID:51118003|ICD10:Q41.0|HP:0002247|GARD:0000054|MedDRA:10013812|ICD9:751.1|UMLS:C0266174|DOID:0080216|NCIT:C101025|MESH:C535720	ordo_morphological_anomaly|gard_rare	congenital atresia of duodenum|atresia of duodenum|duodenal stenosis|duodenal atresia|congenital duodenal atresia	http://purl.obolibrary.org/obo/MONDO_0009126	Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen.	SNOMEDCT:51118003|NCIT:C101025|MESH:C535720|http://identifiers.org/omim/223400|MEDDRA:10013812|UMLS:C0266174|ORPHA:1203|DOID:0080216
HP:0001966	Abnormal glomerular mesangium morphology	biolink:PhenotypicFeature	mondo	UMLS:C4025733		Mesangial abnormality|Abnormality glomerular mesangium morphology|Abnormality of the glomerular mesangium	http://purl.obolibrary.org/obo/HP_0001966	An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries.	
MONDO:0000791	carp allergy	biolink:Disease	mondo	DOID:0060516		Cyprinus carpio fish allergy|Cyprinus carpio caused allergic disease|allergy of Cyprinus carpio|Cyprinus carpio allergic disease	http://purl.obolibrary.org/obo/MONDO_0000791	A allergy involving a Cyprinus carpio.	DOID:0060516
MONDO:0009125	dopamine beta-hydroxylase, plasma, thermolability of	biolink:Disease	mondo	OMIM:223380		dopamine beta-hydroxylase, plasma, thermolability of	http://purl.obolibrary.org/obo/MONDO_0009125		http://identifiers.org/omim/223380
MONDO:0009124	Dubowitz syndrome	biolink:Disease	mondo	SCTID:2593002|UMLS:C0175691|GARD:0006290|ICD9:742.8|ICD10:Q87.1|MedDRA:10059589|NCIT:C125591|Orphanet:235|OMIM:223370|DOID:14796|MESH:C535718	gard_rare|ordo_malformation_syndrome	intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci|Dubowitz syndrome|Dubowitz's syndrome|intrauterine growth retardation, short stature, microcephaly, mild intellectual disability with behavior problems, eczema, and unusual and distinctive faci|dwarfism-eczema-peculiar facies syndrome	http://purl.obolibrary.org/obo/MONDO_0009124	Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.	ORPHA:235|UMLS:C0175691|MEDDRA:10059589|DOID:14796|MESH:C535718|NCIT:C125591|SNOMEDCT:2593002|http://identifiers.org/omim/223370
MONDO:0000790	Atlantic salmon allergy	biolink:Disease	mondo	DOID:0060515		Salmo salar caused allergic disease|Salmo salar allergic disease|allergy of Salmo salar|Salmo salar fish allergy	http://purl.obolibrary.org/obo/MONDO_0000790	A allergy involving a Salmo salar.	DOID:0060515
MONDO:0009123	dopamine beta-hydroxylase deficiency	biolink:Disease	mondo	SCTID:237923004|GARD:0001903|MESH:C535600|ICD9:270.8|GARD:1903|Orphanet:230|ICD10:G90.8|OMIM:223360|UMLS:C0342687|DOID:0090145	ordo_disease|gard_rare	dopamine beta hydroxylase deficiency|dopamine BETA-HYDROXYLASE deficiency, congenital|norepinephrine deficiency|congenital dopamine beta-hydroxylase deficiency|noradrenaline deficiency	http://purl.obolibrary.org/obo/MONDO_0009123	Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension.	DOID:0090145|UMLS:C0342687|MESH:C535600|http://identifiers.org/omim/223360|SNOMEDCT:237923004|ORPHA:230
MONDO:0009122	Dohle bodies and leukemia	biolink:Disease	mondo	OMIM:223350|MESH:C565617|UMLS:C1857225		Dohle bodies and leukemia	http://purl.obolibrary.org/obo/MONDO_0009122		MESH:C565617|http://identifiers.org/omim/223350|UMLS:C1857225
MONDO:0010121	thrombocytopenia-absent radius syndrome	biolink:Disease	mondo	GARD:0005116|MedDRA:10071719|OMIM:274000|NCIT:C99038|SCTID:85589009|Orphanet:3320|UMLS:C0175703|ICD10:Q87.2|DOID:14699|ICD9:759.89	ordo_malformation_syndrome	chromosome 1Q21.1 deletion syndrome, 200-Kb|thrombocytopenia-absent radius syndrome; TAR|thrombocytopenia absent radii|thrombocytopenia-absent radius syndrome|Tar syndrome|TAR|TAR syndrome|absent radii and thrombocytopenia|thrombocytopenia with absent radii (TAR) syndrome|thrombocytopenia absent radius syndrome|chromosome 1q21.1 deletion syndrome|radial aplasia-thrombocytopenia syndrome	http://purl.obolibrary.org/obo/MONDO_0010121	Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.	ORPHA:3320|MEDDRA:10071719|http://identifiers.org/omim/274000|SNOMEDCT:85589009|UMLS:C0175703|NCIT:C99038|DOID:14699
MONDO:0009121	von Voss-Cherstvoy syndrome	biolink:Disease	mondo	Orphanet:3439|MESH:C565618|GARD:0001894|ICD10:Q87.8|UMLS:C1857226|SCTID:719021005|OMIM:223340	ordo_malformation_syndrome	phocomelia, thrombocytopenia, encephalocele, urogenital malformations|von Voss-Cherstvoy syndrome|Von Voss Cherstvoy syndrome|phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome|phocomelia thrombocytopenia encephalocele and urogenital malformations|DK phocomelia syndrome	http://purl.obolibrary.org/obo/MONDO_0009121	Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.	MESH:C565618|SNOMEDCT:719021005|http://identifiers.org/omim/223340|ORPHA:3439|UMLS:C1857226
MONDO:0012784	autosomal recessive ataxia due to ubiquinone deficiency	biolink:Disease	mondo	OMIM:612016|ICD10:G11.1|UMLS:C4511089|SCTID:725394006|Orphanet:139485|MESH:C567436|GARD:0010294|UMLS:C2677589|DOID:0070241	ordo_disease	autosomal recessive cerebellar ataxia type 2|coenzyme Q10 deficiency, primary, 4; COQ10D4|autosomal recessive ataxia due to coenzyme Q10 deficiency|coenzyme Q10 deficiency, primary, type 4|autosomal recessive spinocerebellar ataxia 9|coenzyme Q10 deficiency, primary, 4|spinocerebellar ataxia, autosomal recessive 9|SCAR9|COQ10D4|autosomal recessive spinocerebellar ataxia type 9|ARCA2	http://purl.obolibrary.org/obo/MONDO_0012784	This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.	DOID:0070241|http://identifiers.org/omim/612016|UMLS:C2677589|MESH:C567436|SNOMEDCT:725394006|UMLS:C4511089|ORPHA:139485
HGNC:4298	GLB1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4298		
MONDO:0012785	infantile hypertrophic pyloric stenosis type 3	biolink:Disease	mondo	UMLS:C2677588|OMIM:612017|MESH:C567435		pyloric stenosis, infantile hypertrophic, 3|IHPS3|pyloric stenosis, infantile hypertrophic, 3; IHPS3	http://purl.obolibrary.org/obo/MONDO_0012785		http://identifiers.org/omim/612017|UMLS:C2677588|MESH:C567435
MONDO:0010120	thrombocytopenia 3	biolink:Disease	mondo	UMLS:C2678311|MESH:C567487|OMIM:273900		thrombocytopenia, autosomal recessive, 3|thrombocytopenia 3|THC3|thrombocytopenia 3; THC3	http://purl.obolibrary.org/obo/MONDO_0010120		UMLS:C2678311|MESH:C567487|http://identifiers.org/omim/273900
MONDO:0009120	marfanoid syndrome, De Silva type	biolink:Disease	mondo	GARD:0003401|MESH:C565619|Orphanet:2464|OMIM:223330|UMLS:C1857227	ordo_malformation_syndrome|gard_rare	diverticulosis of bowel, hernia, and retinal detachment|Marphanoid syndrome type De Silva	http://purl.obolibrary.org/obo/MONDO_0009120	Marfanoid syndrome, da Silva type is characterized by the association of marfanoid habitus with visceral diverticula. It has been reported in four adults and two siblings from a consanguineous marriage in two different publications. Pediatric cases also presented with diaphragmatic hernia. Other connective tissue disorders with visceral diverticula have been reported previously, suggesting a relationship between these two conditions.	MESH:C565619|http://identifiers.org/omim/223330|UMLS:C1857227|ORPHA:2464
MONDO:0010123	absent thumb-short stature-immunodeficiency syndrome	biolink:Disease	mondo	ICD10:D82.8|OMIM:274190|UMLS:C1848818|Orphanet:2951|MESH:C564770	ordo_malformation_syndrome	thumb agenesis, short stature, and immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0010123	Absent thumb-short stature-immunodeficiency is an exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978.	UMLS:C1848818|http://identifiers.org/omim/274190|ORPHA:2951|MESH:C564770
MONDO:0012782	CELIAC13	biolink:Disease	mondo	OMIM:612011	predisposition	celiac disease, susceptibility to, 13|gluten-sensitive enteropathy, susceptibility to, 13|CELIAC13|celiac disease, susceptibility to, 13; CELIAC13	http://purl.obolibrary.org/obo/MONDO_0012782		http://identifiers.org/omim/612011
HGNC:4296	GLA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4296		
MONDO:0010122	congenital thrombotic thrombocytopenic purpura	biolink:Disease	mondo	Orphanet:93583|ICD10:M31.3|ICD9:287.33|OMIM:274150|GARD:0009430|SCTID:373420004|NCIT:C131657	ordo_clinical_subtype	Upshaw Factor, deficiency of|thrombotic microangiopathy, familial|Microangiopathic hemolytic Anemia|TTP|thrombotic thrombocytopenic purpura, congenital; TTP|USS|congenital ADAMTS-13 deficiency|congenital TTP|Schulman-Upshaw syndrome|Microangiopathic hemolytic Anemia, congenital|thrombotic thrombocytopenic purpura, familial|thrombotic thrombocytopenic purpura, congenital|familial TTP|hereditary thrombotic thrombocytopenic purpura|congenital ADAMTS13 deficiency|Upshaw-Schulman syndrome|TTP, congenital	http://purl.obolibrary.org/obo/MONDO_0010122	Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.	ORPHA:93583|SNOMEDCT:373420004|http://identifiers.org/omim/274150|NCIT:C131657
MONDO:0012783	RFT1-CDG	biolink:Disease	mondo	Orphanet:244310|GARD:0012394|OMIM:612015|DOID:0080566|ICD10:E77.8|MESH:C567437|UMLS:C2677590|SCTID:733084000	ordo_disease	CDG in|CDG syndrome type In|Man5GlcNAc2-PP-Dol flippase deficiency|congenital disorder of glycosylation type In|CDG1N|congenital disorder of glycosylation, type In|CDGIN|congenital disorder of glycosylation type 1n|CDG-In|carbohydrate deficient glycoprotein syndrome type In|congenital disorder of glycosylation, type In; CDG1N|RFT1-CDG (CDG-In)	http://purl.obolibrary.org/obo/MONDO_0012783	(3p21.1).	SNOMEDCT:733084000|ORPHA:244310|http://identifiers.org/omim/612015|UMLS:C2677590|MESH:C567437|DOID:0080566
MONDO:0010125	upper limb defect-eye and ear abnormalities syndrome	biolink:Disease	mondo	MESH:C564769|Orphanet:2489|OMIM:274205|UMLS:C1848816|ICD10:Q87.8	ordo_malformation_syndrome	thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness	http://purl.obolibrary.org/obo/MONDO_0010125	Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.	UMLS:C1848816|ORPHA:2489|http://identifiers.org/omim/274205|MESH:C564769
MONDO:0012788	CHDS9	biolink:Disease	mondo	OMIM:612030	predisposition	CHDS9|coronary heart disease, susceptibility to, 9|coronary heart disease, susceptibility to, 9; CHDS9	http://purl.obolibrary.org/obo/MONDO_0012788		http://identifiers.org/omim/612030
CHEBI:16733	D-alpha-amino acid	biolink:ChemicalSubstance	mondo			D-alpha-amino acids|D-alpha-amino acids|D-alpha-amino acid|D-Amino acid	http://purl.obolibrary.org/obo/CHEBI_16733		
MONDO:0010124	thumb, distal hyperextensibility of	biolink:Disease	mondo	OMIM:274200		thumb, distal hyperextensibility of	http://purl.obolibrary.org/obo/MONDO_0010124		http://identifiers.org/omim/274200
MONDO:0012789	dystonia 16	biolink:Disease	mondo	GARD:0010539|ICD10:G24.1|OMIM:612067|Orphanet:210571|SCTID:722435003|UMLS:C2677567|DOID:0090048|MESH:C567430	ordo_disease|gard_rare	dystonia type 16|PRKRA dystonic disorder|dystonia 16|dystonia 16; DYT16|DYT16|dystonic disorder caused by mutation in PRKRA|Young-onset dystonia-(parkinsonism)|DYT-PRKRA|early-onset dystonia parkinsonism	http://purl.obolibrary.org/obo/MONDO_0012789	Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.	http://identifiers.org/omim/612067|UMLS:C2677567|MESH:C567430|DOID:0090048|SNOMEDCT:722435003|ORPHA:210571
NCBITaxon:123736	Oestrus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_123736		
MONDO:0012786	juvenile cataract-microcornea-renal glucosuria syndrome	biolink:Disease	mondo	OMIM:612018|UMLS:C2677587|SCTID:722457005|Orphanet:247794|MESH:C567434|DOID:0070353	ordo_disease	cataract, juvenile, with microcornea and glucosuria|cataract, juvenile, with microcornea|CTRCT47|cataract, juvenile, with microcornea and glucosuria; CJMG|cataract 47|cataract, juvenile, with microcornea and glucosuria, formerly|cataract 47; CTRCT47|CJMG	http://purl.obolibrary.org/obo/MONDO_0012786	Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects.	ORPHA:247794|SNOMEDCT:722457005|DOID:0070353|http://identifiers.org/omim/612018|UMLS:C2677587|MESH:C567434
NCBITaxon:123737	Oestrus ovis	organism taxon	mondo	GC_ID:1		sheep bot fly	http://purl.obolibrary.org/obo/NCBITaxon_123737		
MONDO:0010127	thymoma, familial	biolink:Disease	mondo	MESH:C564767|UMLS:C1848814|OMIM:274230		hereditary thymoma (disease)|thymoma, familial|thymic neoplasia	http://purl.obolibrary.org/obo/MONDO_0010127	An instance of thymoma (disease) that is caused by an inherited modification of the individual's genome.	UMLS:C1848814|http://identifiers.org/omim/274230|MESH:C564767
MONDO:0012787	hereditary spastic paraplegia 39	biolink:Disease	mondo	ICD10:G11.4|UMLS:C2677586|UMLS:C4304963|OMIM:612020|DOID:0110790|SCTID:719103009|GARD:0004924|Orphanet:139480|MESH:C567433	ordo_disease	hereditary spastic paraplegia caused by mutation in PNPLA6|PNPLA6 hereditary spastic paraplegia|NTEMND|spastic paraplegia due to NTE mutation|NTE-related motor neuron disorder|autosomal recessive spastic paraplegia 39|spastic paraplegia 39, autosomal recessive|hereditary spastic paraplegia type 39|spastic paraplegia 39|NTE related motor neuron disorder|spastic paraplegia due to neuropathy target esterase mutation|NTE-related motor neuron disorder|spastic paraplegia 39, autosomal recessive; SPG39|SPG39|autosomal recessive spastic paraplegia type 39	http://purl.obolibrary.org/obo/MONDO_0012787	This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting.	ORPHA:139480|SNOMEDCT:719103009|http://identifiers.org/omim/612020|UMLS:C2677586|MESH:C567433|UMLS:C4304963|DOID:0110790
MONDO:0010126	thymic aplasia with fetal death	biolink:Disease	mondo	MESH:C564768|UMLS:C1848815|OMIM:274210		thymic aplasia with fetal death	http://purl.obolibrary.org/obo/MONDO_0010126		UMLS:C1848815|http://identifiers.org/omim/274210|MESH:C564768
HP:0001962	Palpitations	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:80313002|UMLS:C0030252		Missed heart beat|Heart palpitations|Skipped heart beat|Palpitations	http://purl.obolibrary.org/obo/HP_0001962	A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.	
GO:0051195	obsolete negative regulation of cofactor metabolic process	biolink:OntologyClass	mondo			downregulation of cofactor metabolic process|negative regulation of cofactor metabolism|down regulation of cofactor metabolic process|inhibition of cofactor metabolic process|down-regulation of cofactor metabolic process	http://purl.obolibrary.org/obo/GO_0051195	OBSOLETE. Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving a cofactor.	
GO:0051196	obsolete regulation of coenzyme metabolic process	biolink:OntologyClass	mondo			regulation of coenzyme and prosthetic group metabolic process|regulation of coenzyme and prosthetic group metabolism|regulation of coenzyme metabolism	http://purl.obolibrary.org/obo/GO_0051196	OBSOLETE. Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a coenzyme.	
GO:0051193	obsolete regulation of cofactor metabolic process	biolink:OntologyClass	mondo			regulation of cofactor metabolism	http://purl.obolibrary.org/obo/GO_0051193	OBSOLETE. Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a cofactor.	
GO:0051194	obsolete positive regulation of cofactor metabolic process	biolink:OntologyClass	mondo			up regulation of cofactor metabolic process|stimulation of cofactor metabolic process|positive regulation of cofactor metabolism|up-regulation of cofactor metabolic process|activation of cofactor metabolic process|upregulation of cofactor metabolic process	http://purl.obolibrary.org/obo/GO_0051194	OBSOLETE. Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a cofactor.	
MONDO:0000789	Atlantic cod allergy	biolink:Disease	mondo	DOID:0060514		Gadus morhua fish allergy|Gadus morhua allergic disease|Gadus morhua caused allergic disease|allergy of Gadus morhua	http://purl.obolibrary.org/obo/MONDO_0000789	A allergy involving a Gadus morhua.	DOID:0060514
MONDO:0012780	CELIAC11	biolink:Disease	mondo	OMIM:612009	predisposition	CELIAC11|celiac disease, susceptibility to, 11|gluten-sensitive enteropathy, susceptibility to, 11|celiac disease, susceptibility to, 11; CELIAC11	http://purl.obolibrary.org/obo/MONDO_0012780		http://identifiers.org/omim/612009
MONDO:0012781	CELIAC12	biolink:Disease	mondo	OMIM:612010	predisposition	gluten-sensitive enteropathy, susceptibility to, 12|celiac disease, susceptibility to, 12|celiac disease, susceptibility to, 12; CELIAC12|CELIAC12	http://purl.obolibrary.org/obo/MONDO_0012781		http://identifiers.org/omim/612010
GO:0051197	obsolete positive regulation of coenzyme metabolic process	biolink:OntologyClass	mondo			positive regulation of coenzyme and prosthetic group metabolism|stimulation of coenzyme metabolic process|up regulation of coenzyme metabolic process|up-regulation of coenzyme metabolic process|activation of coenzyme metabolic process|positive regulation of coenzyme metabolism|positive regulation of coenzyme and prosthetic group metabolic process|upregulation of coenzyme metabolic process	http://purl.obolibrary.org/obo/GO_0051197	OBSOLETE. Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a coenzyme.	
GO:0051198	obsolete negative regulation of coenzyme metabolic process	biolink:OntologyClass	mondo			negative regulation of coenzyme and prosthetic group metabolic process|downregulation of coenzyme metabolic process|down regulation of coenzyme metabolic process|negative regulation of coenzyme metabolism|inhibition of coenzyme metabolic process|negative regulation of coenzyme and prosthetic group metabolism|down-regulation of coenzyme metabolic process	http://purl.obolibrary.org/obo/GO_0051198	OBSOLETE. Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving a coenzyme.	
MONDO:0024757	cardiovascular neoplasm	biolink:Disease	mondo	SCTID:721573003|NCIT:C4784		cardiovascular neoplasm|neoplasm of cardiovascular system|cardiovascular system tumor|cardiovascular system neoplasm|cardiovascular tumor|tumor of cardiovascular system	http://purl.obolibrary.org/obo/MONDO_0024757	A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma.	NCIT:C4784|SNOMEDCT:721573003
MONDO:0010107	testicular regression syndrome	biolink:Disease	mondo	UMLS:C0266427|MESH:C537770|SCTID:53599007|Orphanet:983|ICD10:Q55.0|OMIM:273250|MedDRA:10002641|ICD9:752.89	ordo_morphological_anomaly	testicular regression, embryonic|TRS|vanishing testis syndrome|ETRS|embryonic testicular regression syndrome|testicular regression syndrome|vanishing testes syndrome|anorchia, familial|XY gonadal agenesis syndrome|testicular regression syndrome; TRS	http://purl.obolibrary.org/obo/MONDO_0010107	Testicular regression syndrome (TRS) is a developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development.	ORPHA:983|SNOMEDCT:53599007|MEDDRA:10002641|UMLS:C1261504|UMLS:C0266427|http://identifiers.org/omim/273250|MESH:C537770|UMLS:C0405582
MONDO:0009139	dyssegmental dysplasia, Rolland-Desbuquois type	biolink:Disease	mondo	ICD9:756.59|UMLS:C0432209|ICD10:Q77.7|GARD:0009810|Orphanet:156731|OMIM:224400|MESH:C537999|SCTID:95243004	gard_rare|ordo_disease	Anisospondylic Camptomicromelic dwarfism, Rolland-Desbuquois type|Anisospondylic camptomicromelic dwarfism Rolland-Desbuquois type|dyssegmental dysplasia, Rolland-Desbuquois type|dyssegmental dysplasia Rolland-Desbuquois type|dyssegmental dwarfism, Rolland-Desbuquois type|Ddrd|dyssegmental dwarfism Rolland-Desbuquois type	http://purl.obolibrary.org/obo/MONDO_0009139		MESH:C537999|UMLS:C0432209|http://identifiers.org/omim/224400|SNOMEDCT:95243004|ORPHA:156731
MONDO:0010106	testes, rudimentary	biolink:Disease	mondo	OMIM:273150		testes, rudimentary	http://purl.obolibrary.org/obo/MONDO_0010106		http://identifiers.org/omim/273150
MONDO:0010109	tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities	biolink:Disease	mondo	GARD:0003348|GARD:0005146|MESH:C536496|OMIM:273390	gard_rare	tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities|Madokoro Ohdo Sonoda syndrome|tetra-amelia, ectodermal dysplasia, and lacrimal duct abnormality	http://purl.obolibrary.org/obo/MONDO_0010109		http://identifiers.org/omim/273390|MESH:C536496
MONDO:0009138	dysosteosclerosis	biolink:Disease	mondo	ICD10:Q78.8|SCTID:254123002|GARD:0002012|OMIM:224300|Orphanet:1782|MESH:C562973|UMLS:C0432262|ICD9:756.9	ordo_malformation_syndrome|gard_rare	dysosteosclerosis	http://purl.obolibrary.org/obo/MONDO_0009138	Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly.	SNOMEDCT:254123002|ORPHA:1782|UMLS:C0432262|http://identifiers.org/omim/224300|MESH:C562973
MONDO:0012768	HPC11	biolink:Disease	mondo	OMIM:611955|MESH:C567449|UMLS:C2677773		HPC11|prostate cancer, hereditary, 11; HPC11|prostate cancer, hereditary, 11	http://purl.obolibrary.org/obo/MONDO_0012768		http://identifiers.org/omim/611955|UMLS:C2677773|MESH:C567449
MONDO:0012769	HPC14	biolink:Disease	mondo	UMLS:C2677772|OMIM:611958|MESH:C567448		prostate cancer, hereditary, 14|prostate cancer, hereditary, 14; HPC14|HPC14	http://purl.obolibrary.org/obo/MONDO_0012769		http://identifiers.org/omim/611958|UMLS:C2677772|MESH:C567448
MONDO:0010108	testicular germ cell tumor	biolink:Disease	mondo	ICD9:239.5|SCTID:713577007|NCIT:C8591|ICD10:C62.1|MESH:C563236|OMIM:273300|EFO:1000566|UMLS:C1336708|GARD:0013047|Orphanet:363504|DOID:5557	ordo_group_of_disorders	testicular germ cell tumor|testicular germ cell neoplasms|testicular germ cell neoplasm|TGCT|testicular germ cell cancer|testis germ cell tumor|teratoma, testicular|germ cell neoplasm of testis|embryonal cell carcinoma|germ cell neoplasm of the testis|Male germ cell tumor|germ cell tumor of testis|testicular germ cell tumor; TGCT|spermatocytic seminoma|seminoma|TGCT|nonseminomatous germ cell tumors|germ cell tumor of the testis|endodermal sinus tumor	http://purl.obolibrary.org/obo/MONDO_0010108	A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor.	NCIT:C8591|MESH:C563236|SNOMEDCT:713577007|UMLS:C1336708|ORPHA:363504|DOID:5557|http://identifiers.org/omim/273300
MONDO:0009137	dysmyelination with jaundice	biolink:Disease	mondo	OMIM:224250|UMLS:C1857143|MESH:C565610		dysmyelination with jaundice	http://purl.obolibrary.org/obo/MONDO_0009137		MESH:C565610|http://identifiers.org/omim/224250|UMLS:C1857143
HP:0001977	Abnormal thrombosis	biolink:PhenotypicFeature	mondo	UMLS:C4025731		Abnormal blood clotting|Abnormal blood clot	http://purl.obolibrary.org/obo/HP_0001977	Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).	
MONDO:0009136	dyskeratosis congenita, autosomal recessive 1	biolink:Disease	mondo	UMLS:C1857144|OMIM:224230|GARD:0006300|SCTID:707272006|MESH:C565611|DOID:0070015	prototype_pattern|gard_rare	autosomal recessive dyskeratosis congenita 1|DKCB|dyskeratosis congenita, autosomal recessive 1; DKCB1|dyskeratosis congenita, autosomal recessive type 1|dyskeratosis congenita, autosomal recessive 1|DKCB1|dyskeratosis congenita autosomal recessive|autosomal recessive dyskeratosis congenita	http://purl.obolibrary.org/obo/MONDO_0009136	A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA3 on chromosome 15q14.	MESH:C565611|http://identifiers.org/omim/224230|DOID:0070015|UMLS:C1857144|SNOMEDCT:707272006
MONDO:0009135	anemia, congenital dyserythropoietic, type 1a	biolink:Disease	mondo	OMIM:224120|DOID:0111398		anemia, congenital dyserythropoietic, type Ia; CDAN1A|anemia, congenital dyserythropoietic, type Ia|dyserythropoietic Anemia, congenital, type Ia|CDA Ia|CDAN1A|anemia, congenital dyserythropoietic, type 1	http://purl.obolibrary.org/obo/MONDO_0009135		DOID:0111398|http://identifiers.org/omim/224120
MONDO:0009134	congenital dyserythropoietic anemia type 2	biolink:Disease	mondo	ICD10:D64.4|SCTID:68870007|DOID:0111401|ICD9:285.8|Orphanet:98873|GARD:0002001|OMIM:224100	ordo_disease	anemia, congenital dyserythropoietic, type II; CDAN2|anemia, dyserythropoietic, congenital type 2|anemia, congenital dyserythropoietic, type II|CDA type 2|CDAN2|Cda 2|dyserythropoietic Anemia, congenital, type 2|SEC23B-CDG|congenital dyserythropoietic anemia type 2|hempas anemia|CDA type II|hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)|dyserythropoietic Anemia, hempas type|anemia, congenital dyserythropoietic, type 2|hereditary erythroblastic multinuclearity with Positive acidified-serum test|CDA II	http://purl.obolibrary.org/obo/MONDO_0009134	Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.	ORPHA:98873|DOID:0111401|http://identifiers.org/omim/224100|SNOMEDCT:68870007|UMLS:C1306589
HGNC:23791	INF2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23791		
MONDO:0009133	cerebellar ataxia, intellectual disability, and dysequilibrium	biolink:Disease	mondo	MedDRA:10013140|OMIMPS:224050|GARD:0001998|Orphanet:1766|MESH:C535731|DOID:0050997|SCTID:230782004|ICD10:G11.8|NCIT:C114781	gard_rare|ordo_disease|prototype_pattern	dialysis dysequilibrium syndrome|CAMRQ syndrome|cerebellar disorder, nonprogressive, with mental retardation|non-progressive cerebellar ataxia-intellectual disability syndrome|cerebellar hypoplasia, VLDLR associated|VLDLRCH|cerebellar ataxia, mental retardation, and dysequilibrium|cerebellar ataxia, mental retardation and dysequlibrium syndrome|dysequilibrium syndrome|cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome|DES|CAMRQ	http://purl.obolibrary.org/obo/MONDO_0009133	A non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.	DOID:0050997|MESH:C535731|NCIT:C114781|UMLS:C0394006|MEDDRA:10013140|SNOMEDCT:230782004|ORPHA:1766
MONDO:0009132	dysautonomia-like disorder	biolink:Disease	mondo	OMIM:224000|MESH:C535728|GARD:0009475|UMLS:C1857153	gard_rare	dysautonomia like disorder|dysautonomia-like disorder	http://purl.obolibrary.org/obo/MONDO_0009132		http://identifiers.org/omim/224000|MESH:C535728|UMLS:C1857153
MONDO:0010110	tetraamelia-multiple malformations syndrome	biolink:Disease	mondo	Orphanet:3301|MESH:C536500|GARD:0000386|ICD10:Q87.8|SCTID:716249009|UMLS:C2931218	ordo_malformation_syndrome	TETRAAMELIA syndrome, autosomal recessive|TETRAAMELIA syndrome, autosomal recessive; TETAMS|Zimmer Taub Sova syndrome|TETAMS|Zimmer phocomelia|Tetraamelia multiple malformations X-linked	http://purl.obolibrary.org/obo/MONDO_0010110	Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.	UMLS:C2931218|ORPHA:3301|http://identifiers.org/omim/273395|MESH:C536500|SNOMEDCT:716249009
MONDO:0012773	Hunter-Macdonald syndrome	biolink:Disease	mondo	OMIM:611962|MESH:C567445|UMLS:C2677745		Hunter-Macdonald syndrome	http://purl.obolibrary.org/obo/MONDO_0012773		MESH:C567445|UMLS:C2677745|http://identifiers.org/omim/611962
MONDO:0012774	chromosome 15q13.3 microdeletion syndrome	biolink:Disease	mondo	DOID:0060394|GARD:0010296|MESH:C567439|OMIM:612001|SCTID:699254009|ICD10:Q93.5|Orphanet:199318	ordo_malformation_syndrome	chromosome 15q13.3 deletion syndrome|Del(15)(q13.3)|microdeletion 15q13.3 syndrome|monosomy 15q13.3|chromosome 15q13.3 microdeletion syndrome|15q13.3 microdeletion|15q13.3 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0012774	15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.	http://identifiers.org/omim/612001|MESH:C567439|SNOMEDCT:699254009|ORPHA:199318|DOID:0060394
MONDO:0009131	Riley-Day syndrome	biolink:Disease	mondo	DOID:11589|OMIM:223900|ICD10:G90.1|MESH:D004402|UMLS:C0013364|COHD:4104196|NCIT:C84706|Orphanet:1764|SCTID:29159009|MedDRA:10039179|GARD:0007581	ordo_disease	neuropathy, hereditary sensory and autonomic, type III|neuropathy, hereditary sensory and autonomic, type III; HSAN3|HSN 3|hereditary sensory and autonomic neuropathy 3|familial dysautonomia|HSAN III|dysautonomia, familial|familial autonomic nervous dysfunction|hereditary sensory and autonomic neuropathy type 3|HSAN3|neuropathy, hereditary sensory and autonomic, type 3|HSAN 3|Riley-Day syndrome|Riley Day syndrome|hereditary sensory and autonomic neuropathy type III|hereditary sensory neuropathy type 3	http://purl.obolibrary.org/obo/MONDO_0009131	A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system.	MEDDRA:10039179|DOID:11589|MESH:D004402|NCIT:C84706|http://identifiers.org/omim/223900|UMLS:C0013364|ORPHA:1764|SNOMEDCT:29159009
MONDO:0009130	Dyggve-Melchior-Clausen disease	biolink:Disease	mondo	SCTID:82699004|ICD10:Q77.7|GARD:0006295|NCIT:C124844|UMLS:C0265286|DOID:0111167|OMIM:223800|Orphanet:239	ordo_disease	DMC disease|Dyggve-Melchior-Clausen disease; DMC|DMC syndrome|DMC|Dyggve-Melchior-Clausen disease|Dyggve-Melchior-Clausen syndrome|pseudo-Morquio disease type I	http://purl.obolibrary.org/obo/MONDO_0009130	Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias.	MESH:C535726|SNOMEDCT:82699004|http://identifiers.org/omim/223800|NCIT:C124844|ORPHA:239|UMLS:C0265286|DOID:0111167
MONDO:0012771	asthma-related traits, susceptibility to, 7	biolink:Disease	mondo	OMIM:611960	predisposition	CHI3L1 inherited susceptibility to asthma|asthma-related traits, susceptibility to, type 7|asthma-RELATED traits, susceptibility to, 7; ASRT7|inherited susceptibility to asthma caused by mutation in CHI3L1|asthma-related traits, susceptibility to, 7|ASRT7	http://purl.obolibrary.org/obo/MONDO_0012771	Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the CHI3L1 gene.	http://identifiers.org/omim/611960
MONDO:0010112	thalamic degeneration, symmetric infantile	biolink:Disease	mondo	UMLS:C2931220|Orphanet:3311|GARD:0005160|MESH:C536504|OMIM:273490	gard_rare	thalamic degeneration, symmetric infantile|symmetrical thalamic degeneration in infants|symmetric infantile thalamic degeneration	http://purl.obolibrary.org/obo/MONDO_0010112		UMLS:C2931220|ORPHA:3311|http://identifiers.org/omim/273490|MESH:C536504
MONDO:0012772	Stevenson-Carey syndrome	biolink:Disease	mondo	UMLS:C2677763|OMIM:611961|MESH:C567446		Stevenson-Carey syndrome	http://purl.obolibrary.org/obo/MONDO_0012772		MESH:C567446|UMLS:C2677763|http://identifiers.org/omim/611961
MONDO:0010111	odontotrichomelic syndrome	biolink:Disease	mondo	Orphanet:2723|SCTID:239028001|UMLS:CN074199|OMIM:273400	ordo_malformation_syndrome	odontotrichomelic syndrome|tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities|Freire-Maia syndrome	http://purl.obolibrary.org/obo/MONDO_0010111	Odontotrichomelic syndrome is characterised by malformations of all four extremities, hypoplastic nails, ear anomalies, hypotrichosis, abnormal dentition, hyperhidrosis and nasolacrimal duct obstruction. So far, it has been described in less than 10 patients. Transmission is autosomal recessive.	UMLS:CN074199|SNOMEDCT:239028001|ORPHA:2723|http://identifiers.org/omim/273400
HP:0001974	Leukocytosis	biolink:PhenotypicFeature	mondo	MSH:D007964|UMLS:C0023518|SNOMEDCT_US:111583006		Increased blood leukocyte number|High white blood count|Elevated white blood count	http://purl.obolibrary.org/obo/HP_0001974	An abnormal increase in the number of leukocytes in the blood.	
MONDO:0010114	thanatophoric dysplasia, Glasgow variant	biolink:Disease	mondo	MESH:C536506|Orphanet:93275|OMIM:273680|UMLS:C1848865		neonatally lethal short-limb skeletal dysplasia, Glasgow type|thanatophoric dysplasia, Glasgow variant	http://purl.obolibrary.org/obo/MONDO_0010114		ORPHA:93275|UMLS:C1848865|http://identifiers.org/omim/273680|MESH:C536506
MONDO:0012777	CELIAC8	biolink:Disease	mondo	OMIM:612006	predisposition	celiac disease, susceptibility to, 8|CELIAC8|celiac disease, susceptibility to, 8; CELIAC8|gluten-sensitive enteropathy, susceptibility to, 8	http://purl.obolibrary.org/obo/MONDO_0012777		http://identifiers.org/omim/612006
MONDO:0010113	thalidomide susceptibility	biolink:Disease	mondo	OMIM:273600	predisposition	thalidomide susceptibility	http://purl.obolibrary.org/obo/MONDO_0010113		http://identifiers.org/omim/273600
MONDO:0012778	CELIAC9	biolink:Disease	mondo	OMIM:612007	predisposition	CELIAC9|celiac disease, susceptibility to, 9|celiac disease, susceptibility to, 9; CELIAC9|gluten-sensitive enteropathy, susceptibility to, 9	http://purl.obolibrary.org/obo/MONDO_0012778		http://identifiers.org/omim/612007
MONDO:0012775	thrombocytopenia 4	biolink:Disease	mondo	MESH:C567438|UMLS:C2677608|OMIM:612004		thrombocytopenia, autosomal dominant, 4|thrombocytopenia caused by mutation in CYCS|thrombocytopenia type 4|thrombocytopenia 4|thrombocytopenia 4; THC4|CYCS thrombocytopenia|THC4	http://purl.obolibrary.org/obo/MONDO_0012775	Any thrombocytopenia in which the cause of the disease is a mutation in the CYCS gene.	http://identifiers.org/omim/612004|MESH:C567438|UMLS:C2677608
MONDO:0010116	thoracomelic dysplasia	biolink:Disease	mondo	OMIM:273740|UMLS:C1848863|Orphanet:1803|GARD:0010612|ICD10:Q77.2|MESH:C564773	ordo_disease	'thoraco-limb' dysplasia|thoracolimb dysplasia, Rivera type|Rivera-Perez-Salas syndrome|thoraco-limb dysplasia|thoracomelic dysplasia	http://purl.obolibrary.org/obo/MONDO_0010116		MESH:C564773|UMLS:C2931227|UMLS:C1848863|ORPHA:1803|http://identifiers.org/omim/273740
HP:0001972	Macrocytic anemia	biolink:PhenotypicFeature	mondo	UMLS:C0002886|MSH:D000748|SNOMEDCT_US:83414005		Macrocytic anaemia	http://purl.obolibrary.org/obo/HP_0001972	A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).	
MONDO:0010115	thoracic dysplasia-hydrocephalus syndrome	biolink:Disease	mondo	UMLS:C1848864|Orphanet:1861|MESH:C564774|GARD:0005180|ICD10:Q87.8|OMIM:273730	ordo_malformation_syndrome|gard_rare	thoracic dysplasia-hydrocephalus syndrome|thoracic dysplasia hydrocephalus syndrome	http://purl.obolibrary.org/obo/MONDO_0010115		MESH:C564774|UMLS:C1848864|ORPHA:1861|http://identifiers.org/omim/273730
MONDO:0012776	CELIAC7	biolink:Disease	mondo	OMIM:612005	predisposition	celiac disease, susceptibility to, 7|celiac disease, susceptibility to, 7; CELIAC7|CELIAC7|gluten-sensitive enteropathy, susceptibility to, 7	http://purl.obolibrary.org/obo/MONDO_0012776		http://identifiers.org/omim/612005
MONDO:0034106	developmental and epileptic encephalopathy, 73	biolink:Disease	mondo	OMIM:618379|Orphanet:544503	ordo_disease	DEE73|rnf13-related severe early-onset epileptic encephalopathy|epileptic encephalopathy, early infantile, 73	http://purl.obolibrary.org/obo/MONDO_0034106		ORPHA:544503|http://identifiers.org/omim/618379
MONDO:0034104	global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	biolink:Disease	mondo	Orphanet:544488	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0034104		ORPHA:544488
MONDO:0034103	infection-related hemolytic uremic syndrome	biolink:Disease	mondo	Orphanet:544482	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0034103		ORPHA:544482
MONDO:0012770	HPC15	biolink:Disease	mondo	MESH:C567447|UMLS:C2677771|OMIM:611959		prostate cancer, hereditary, 15; HPC15|HPC15|prostate cancer, hereditary, 15	http://purl.obolibrary.org/obo/MONDO_0012770		UMLS:C2677771|MESH:C567447|http://identifiers.org/omim/611959
MONDO:0000773	Timothy grass allergy	biolink:Disease	mondo	DOID:0060498		Phleum pratense caused allergic disease|allergy of Phleum pratense|Phleum pratense allergic disease	http://purl.obolibrary.org/obo/MONDO_0000773	A allergy involving a Phleum pratense.	DOID:0060498
MONDO:0000772	pollen allergy	biolink:Disease	mondo	DOID:0060497		pollen allergic disease|allergy of pollen	http://purl.obolibrary.org/obo/MONDO_0000772	A allergy involving pollen.	DOID:0060497
MONDO:0000771	allergic respiratory disease	biolink:Disease	mondo	DOID:0060496		respiratory allergy|airway allergy|allergic form of respiratory system disease|allergic respiratory system disease	http://purl.obolibrary.org/obo/MONDO_0000771	A respiratory system disease with a basis in a pathological type I hypersensitivity reaction.	DOID:0060496
MONDO:0000770	shellfish allergy	biolink:Disease	mondo	UMLS:C0577625|SCTID:300913006|MESH:D000067208|DOID:0060495			http://purl.obolibrary.org/obo/MONDO_0000770	Allergic reaction to shellfish or shellfish products.	SNOMEDCT:300913006|MESH:D000067208|DOID:0060495|UMLS:C0577625
MONDO:0024744	childhood choroid plexus neoplasm	biolink:Disease	mondo	NCIT:C42080		choroid plexus neoplasm|pediatric choroid plexus neoplasm|pediatric choroid plexus neoplasm|childhood choroid plexus neoplasm|choroid plexus neoplasm of childhood	http://purl.obolibrary.org/obo/MONDO_0024744	A neoplasm that arises from the choroid plexus in the brain and occurs during childhood.	NCIT:C42080
GO:0099111	microtubule-based transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0099111	A microtubule-based process that results in the transport of organelles, other microtubules, or other cellular components.  Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules.	
MONDO:0000777	gastrointestinal allergy	biolink:Disease	mondo	DOID:0060502		digestive tract allergic disease|allergic disease of digestive tract	http://purl.obolibrary.org/obo/MONDO_0000777	A allergic disease that involves the digestive tract.	DOID:0060502
MONDO:0000776	metal allergy	biolink:Disease	mondo	ICD9:995.3|SCTID:300915004|UMLS:C0577627|DOID:0060501		metal allergen allergic disease|allergy of metal allergen	http://purl.obolibrary.org/obo/MONDO_0000776	A allergy involving a metal allergen.	UMLS:C0577627|DOID:0060501|SNOMEDCT:300915004
MONDO:0000775	drug allergy	biolink:Disease	mondo	COHD:439224|DOID:0060500|MESH:D004342		exposure to drug allergic disease|allergy of exposure to drug	http://purl.obolibrary.org/obo/MONDO_0000775	Immunologically mediated adverse reactions to medicinal substances used legally or illegally.	DOID:0060500|MESH:D004342
MONDO:0009109	lysinuric protein intolerance	biolink:Disease	mondo	DOID:0060439|ICD9:270.8|UMLS:C0268647|OMIM:222700|Orphanet:470|GARD:0001853|MedDRA:10058300|NCIT:C121563|SCTID:303852004|MESH:C562687|ICD10:E72.0|GARD:0003335	gard_rare|ordo_disease	hyperdibasic aminoaciduria type 2|LPI|lysinuric PROTEIN intolerance; LPI|hyperdibasic aminoaciduria|dibasic aminoaciduria 2|dibasic amino aciduria 2|Dibasicamino aciduria II|lysinuric protein intolerance|dibasic amino aciduria II	http://purl.obolibrary.org/obo/MONDO_0009109	Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.	http://identifiers.org/omim/222700|UMLS:C0268647|NCIT:C121563|SNOMEDCT:303852004|ORPHA:470|MEDDRA:10058300|DOID:0060439|MESH:C562687
MONDO:0024746	immature teratoma	biolink:Disease	mondo	ICDO:9080/3|NCIT:C4286		malignant teratoma|teratoma, malignant|immature teratoma	http://purl.obolibrary.org/obo/MONDO_0024746	A teratoma composed of immature, fetal-type tissues.	NCIT:C4286
MONDO:0034109	congenital myopathy with reduced type 2 muscle fibers	biolink:Disease	mondo	OMIM:618414|Orphanet:544602	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0034109		ORPHA:544602|http://identifiers.org/omim/618414
MONDO:0009108	hyperdibasic aminoaciduria type 1	biolink:Disease	mondo	Orphanet:1032|OMIM:222690|GARD:0001854|UMLS:C2673736|MESH:C567132|ICD10:E72.0	gard_rare|ordo_disease	dibasic amino aciduria 1|dibasic amino aciduria type 1|dibasic aminoaciduria 1|dibasic amino aciduria I	http://purl.obolibrary.org/obo/MONDO_0009108	Hyperdibasic aminoaciduria, type 1 is characterised by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported.	http://identifiers.org/omim/222690|MESH:C567132|ORPHA:1032|UMLS:C2673736
MONDO:0000774	autoimmune neuropathy	biolink:Disease	mondo	DOID:0040087|DOID:0060499		autoimmune peripheral neuropathy	http://purl.obolibrary.org/obo/MONDO_0000774	An autoimmune form of peripheral neuropathy.	DOID:0060499|DOID:0040087
MONDO:0009107	diastrophic dysplasia	biolink:Disease	mondo	OMIM:222600|GARD:0006275|MESH:C536170|ICD9:756.89|ICD10:Q77.5|DOID:14687|SCTID:58561002|Orphanet:628	ordo_disease	DTD|DD|diastrophic dysplasia; DTD|diastrophic dysplasia|diastrophic dwarfism|diastrophic dysplasia, Broad bone-Platyspondylic variant	http://purl.obolibrary.org/obo/MONDO_0009107	Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).	http://identifiers.org/omim/222600|MESH:C536170|DOID:14687|ORPHA:628|UMLS:C0220726|SNOMEDCT:58561002
MONDO:0012759	camptodactyly syndrome, Guadalajara type 3	biolink:Disease	mondo	Orphanet:488434|GARD:0010573|MESH:C567455|UMLS:C2677809|OMIM:611929	ordo_malformation_syndrome	camptodactyly syndrome, Guadalajara, type 3|camptodactyly syndrome Guadalajara type 3|camptodactyly syndrome, Guadalajara, type III	http://purl.obolibrary.org/obo/MONDO_0012759	Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age.	http://identifiers.org/omim/611929|ORPHA:488434|MESH:C567455|UMLS:C2677809
HP:0001945	Fever	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:386661006|UMLS:C0015967|MSH:D005334|SNOMEDCT_US:50177009		Pyrexia|Fever|Hyperthermia	http://purl.obolibrary.org/obo/HP_0001945	Elevated body temperature due to failed thermoregulation.	
MONDO:0009106	diastematomyelia	biolink:Disease	mondo	COHD:139132|SCTID:49351009|MedDRA:10012750|Orphanet:1671|ICD9:742.51|NCIT:C98913|ICD10:Q06.2|GARD:0001851|OMIM:222500|UMLS:C0011999	ordo_morphological_anomaly	SSCM|Pseudodiplomyelia|diplomyelia|SCM type 1|split cord malformation|diastematomyelia|Dimyelia|split spinal cord malformation|split cord malformation type 1	http://purl.obolibrary.org/obo/MONDO_0009106	A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida.	http://identifiers.org/omim/222500|MEDDRA:10012750|ORPHA:1671|UMLS:C0011999|SNOMEDCT:49351009|NCIT:C98913
MONDO:0012757	lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome	biolink:Disease	mondo	OMIM:611926|ICD10:D82.8|Orphanet:137631|UMLS:C3150156|SCTID:721977007	ordo_disease	immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis	http://purl.obolibrary.org/obo/MONDO_0012757	Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies.	SNOMEDCT:721977007|http://identifiers.org/omim/611926|ORPHA:137631|UMLS:C3150156
MONDO:0009105	tricho-hepato-enteric syndrome	biolink:Disease	mondo	SCTID:703406006|UMLS:C1857276|GARD:0005258|DOID:0111414|OMIMPS:222470|Orphanet:84064	ordo_disease	THES1|phenotypic diarrhea|Syndromatic diarrhea|syndromic diarrhea/Tricho-hepato-enteric syndrome|TRICHOHEPATOENTERIC syndrome 1|Trichohepatoenteric syndrome|Tricho-hepato-enteric syndrome|syndromic diarrhea|SD/THE|Trichohepatoenteric syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0009105	Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.	SNOMEDCT:703406006|UMLS:C1857276|ORPHA:84064|DOID:0111414
HP:0001943	Hypoglycemia	biolink:PhenotypicFeature	mondo	UMLS:C0020615|SNOMEDCT_US:237630007|SNOMEDCT_US:302866003|MSH:D007003|SNOMEDCT_US:271327008		Hypoglycaemia|Low blood sugar	http://purl.obolibrary.org/obo/HP_0001943	A decreased concentration of glucose in the blood.	
MONDO:0012758	prostate cancer, hereditary, 13	biolink:Disease	mondo	MESH:C567456|UMLS:C2677821|OMIM:611928		HPC13|MSMB familial prostate cancer|prostate cancer, hereditary, 13|familial prostate cancer caused by mutation in MSMB|prostate cancer, hereditary, 13; HPC13|prostate cancer, hereditary, type 13	http://purl.obolibrary.org/obo/MONDO_0012758	Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene.	http://identifiers.org/omim/611928|MESH:C567456|UMLS:C2677821
MONDO:0009104	Donnai-Barrow syndrome	biolink:Disease	mondo	GARD:0001899|UMLS:C1857277|ICD10:Q87.8|GARD:1899|DOID:0090144|OMIM:222448|Orphanet:2143|MESH:C536390|ICD9:759.89|SCTID:702418009	ordo_malformation_syndrome|gard_rare	facio-oculo-acoustico-renal syndrome|diaphragmatic hernia-exomphalos-hypertelorism syndrome|Donnai-Barrow syndrome|Holmes-Schepens syndrome|diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria|syndrome of ocular and facial anomalies, telecanthus and deafness|faciooculoacousticorenal syndrome|DBS/FOAR syndrome|diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria|diaphragmatic hernia-hypertelorism-myopia-deafness syndrome|diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and Proteinuria|FOAR syndrome	http://purl.obolibrary.org/obo/MONDO_0009104	Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.	SNOMEDCT:702418009|ORPHA:2143|UMLS:C1857277|MESH:C536390|DOID:0090144|http://identifiers.org/omim/222448
HP:0001944	Dehydration	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:34095006|MSH:D003681|UMLS:C0011175		Dehydration|Exsiccosis	http://purl.obolibrary.org/obo/HP_0001944		
MONDO:0009103	diaphragmatic hernia 2	biolink:Disease	mondo	OMIM:222400|MESH:C565629		diaphragmatic hernia 2; DIH2|diaphragmatic hernia 2|DIH2	http://purl.obolibrary.org/obo/MONDO_0009103		MESH:C565629|http://identifiers.org/omim/222400
MONDO:0009102	diaminopentanuria	biolink:Disease	mondo	UMLS:C1857285|MESH:C565630|OMIM:222350		Diaminopentanuria|cystine-lysinuria	http://purl.obolibrary.org/obo/MONDO_0009102		UMLS:C1857285|MESH:C565630|http://identifiers.org/omim/222350
MONDO:0009101	Wolfram syndrome 1	biolink:Disease	mondo	DOID:0110629|OMIM:222300|ICD10:E13.8		Wolfram syndrome caused by mutation in WFS1|diabetes insipidus and mellitus with optic atrophy and deafness|WOLFRAM syndrome 1; WFS1|WFS1|Wolfram syndrome 1|Wfs|Wolfram syndrome type 1|WFS1 Wolfram syndrome	http://purl.obolibrary.org/obo/MONDO_0009101	Any Wolfram syndrome in which the cause of the disease is a mutation in the WFS1 gene.	DOID:0110629|http://identifiers.org/omim/222300
MONDO:0009100	IDDM 1	biolink:Disease	mondo	OMIM:222100		diabetes mellitus, type 1|insulin-dependent diabetes mellitus 1|IDDM|diabetes mellitus, insulin-dependent|IDDM1|diabetes mellitus, insulin-dependent, 1|diabetes mellitus, insulin-dependent; IDDM|juvenile-onset diabetes	http://purl.obolibrary.org/obo/MONDO_0009100		http://identifiers.org/omim/222100
MONDO:0012762	catecholaminergic polymorphic ventricular tachycardia 2	biolink:Disease	mondo	ICD10:I47.2|NCIT:C148368|DOID:0060676|OMIM:611938|UMLS:C2677794		ventricular tachycardia, catecholaminergic polymorphic, type 2|CPVT2|ventricular tachycardia, stress-induced polymorphic|CASQ2 catecholaminergic polymorphic ventricular tachycardia|ventricular tachycardia, catecholaminergic polymorphic, 2; CPVT2|catecholaminergic polymorphic ventricular tachycardia caused by mutation in CASQ2|ventricular tachycardia, catecholaminergic polymorphic, 2|catecholaminergic polymorphic ventricular tachycardia type 2|CVPT2	http://purl.obolibrary.org/obo/MONDO_0012762	Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CASQ2 gene.	DOID:0060676|NCIT:C148368|UMLS:C2677794|http://identifiers.org/omim/611938
MONDO:0034110	atypical Fanconi syndrome-neonatal hyperinsulinism syndrome	biolink:Disease	mondo	Orphanet:544628	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0034110		ORPHA:544628
HGNC:11786	THBS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11786		
MONDO:0012763	epilepsy, childhood absence, susceptibility to, 6	biolink:Disease	mondo	OMIM:611942	predisposition	epilepsy, childhood absence, susceptibility to, 6|epilepsy, childhood absence, susceptibility to, type 6|CACNA1H childhood absence epilepsy|epilepsy, idiopathic generalized, susceptibility to, 6|epilepsy, childhood absence, susceptibility to, 6; ECA6|susceptibility to childhood absence epilepsy 6|childhood absence epilepsy caused by mutation in CACNA1H|ECA6	http://purl.obolibrary.org/obo/MONDO_0012763	Any childhood absence epilepsy in which the cause of the disease is a mutation in the CACNA1H gene.	http://identifiers.org/omim/611942
MONDO:0010101	Teebi-Shaltout syndrome	biolink:Disease	mondo	GARD:0005125|Orphanet:3291|MESH:C536950|OMIM:272950|UMLS:C1848912	ordo_malformation_syndrome|gard_rare	Teebi-Shaltout syndrome; TBSH|craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage|Teebi-Shaltout syndrome|TBSH|Teebi Shaltout syndrome	http://purl.obolibrary.org/obo/MONDO_0010101	Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features.	http://identifiers.org/omim/272950|UMLS:C1848912|ORPHA:3291|MESH:C536950
MONDO:0012760	EIG5	biolink:Disease	mondo	DOID:0111320|OMIM:611934	predisposition	epilepsy, idiopathic generalized, susceptibility to, 5; EIG5|EIG5|epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10|epilepsy, idiopathic generalized, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0012760		DOID:0111320|http://identifiers.org/omim/611934
HGNC:11784	THBD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11784		
MONDO:0010100	Tay-Sachs disease	biolink:Disease	mondo	DOID:3320|ICD10:E75.02|UMLS:C0039373|ICD10:E75.0|MedDRA:10043147|NCIT:C85184|MESH:D013661|SCTID:111385000|OMIM:272800|GARD:0007737|Orphanet:845	ordo_disease|gard_rare	hexosaminidase a deficiency|TSD|Tay-Sachs disease, juvenile|GM2-gangliosidosis, type 1|GM2 gangliosidosis, type 1|GM2-gangliosidosis, variant B1|GM2-gangliosidosis, adult chronic type|hexosaminidase A deficiency|Tay-Sachs disease|Tay-Sachs disease, variant B1|B variant GM2 gangliosidosis|GM2 gangliosidosis, B, B1 variant|B variant GM2-gangliosidosis|disease, Tay-Sachs|Tay-Sachs disease, pseudo-Ab variant|gangliosidosis GM2, type 1|TAY-Sachs disease; TSD|hexosaminidase a deficiency, adult type|sphingolipidosis, Tay-Sachs|hexosaminidase alpha-subunit deficiency (variant B)|hexa deficiency	http://purl.obolibrary.org/obo/MONDO_0010100	GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency.	http://identifiers.org/omim/272800|NCIT:C85184|MEDDRA:10043147|SNOMEDCT:111385000|UMLS:C1848922|UMLS:C0039373|MESH:D013661|DOID:3320|ORPHA:845
MONDO:0012761	chromosome 3q29 microduplication syndrome	biolink:Disease	mondo	GARD:0010360|DOID:0060459|OMIM:611936|ICD10:Q92.3|Orphanet:251038|UMLS:C2749873|MESH:C567626|SCTID:717973004	gard_rare|ordo_malformation_syndrome	chromosome 3q29 DUPLICATION syndrome|microduplication 3Q29 syndrome|3q29 microduplication syndrome|3q29 microduplication|trisomy 3q29	http://purl.obolibrary.org/obo/MONDO_0012761	3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance.	SNOMEDCT:717973004|MESH:C567626|UMLS:C2749873|http://identifiers.org/omim/611936|ORPHA:251038|DOID:0060459
HP:0001941	Acidosis	biolink:PhenotypicFeature	mondo	MSH:D000138|SNOMEDCT_US:51387008|UMLS:C0001122			http://purl.obolibrary.org/obo/HP_0001941	Abnormal acid accumulation or depletion of base.	
MONDO:0012766	hereditary spastic paraplegia 37	biolink:Disease	mondo	DOID:0110788|OMIM:611945|UMLS:C2936880|ICD10:G11.4|SCTID:763369007|MESH:C567931|Orphanet:171612	ordo_disease	autosomal dominant spastic paraplegia type 37|hereditary spastic paraplegia type 37|SPG37|spastic paraplegia 37, autosomal dominant; SPG37|spastic paraplegia 37, autosomal dominant|autosomal dominant spastic paraplegia 37	http://purl.obolibrary.org/obo/MONDO_0012766	Autosomal dominant spastic paraplegia type 37 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients.	DOID:0110788|SNOMEDCT:763369007|ORPHA:171612|UMLS:C2936880|MESH:C567931|http://identifiers.org/omim/611945
MONDO:0010103	teeth, fused	biolink:Disease	mondo	OMIM:273000|SCTID:1744008		teeth, fused	http://purl.obolibrary.org/obo/MONDO_0010103		SNOMEDCT:1744008|http://identifiers.org/omim/273000
MONDO:0010102	taurodontia-absent teeth-sparse hair syndrome	biolink:Disease	mondo	OMIM:272980|UMLS:C1848909|MESH:C536945|Orphanet:2731|GARD:0005118	ordo_malformation_syndrome|gard_rare	teeth, congenital absence of, with taurodontia and sparse hair|taurodontia, absent teeth, and sparse hair|taurodontia, absent teeth, sparse hair syndrome	http://purl.obolibrary.org/obo/MONDO_0010102	This syndrome is characterised by congenital absence of the teeth, and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families.	http://identifiers.org/omim/272980|UMLS:C1848909|ORPHA:2731|MESH:C536945
HP:0001942	Metabolic acidosis	biolink:PhenotypicFeature	mondo	MSH:D000138|SNOMEDCT_US:59455009|UMLS:C0220981			http://purl.obolibrary.org/obo/HP_0001942	Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.	
MONDO:0012767	age related macular degeneration 11	biolink:Disease	mondo	MESH:C567450|DOID:0110023|UMLS:C2677774|OMIM:611953		macular degeneration, age-related, 11; ARMD11|ARMD11|age related macular degeneration type 11|macular degeneration, age-related, 11|macular Degeneration, age-related, type 11|CST3 age-related macular degeneration|age-related macular degeneration caused by mutation in CST3	http://purl.obolibrary.org/obo/MONDO_0012767	Any age-related macular degeneration in which the cause of the disease is a mutation in the CST3 gene.	UMLS:C2677774|MESH:C567450|DOID:0110023|http://identifiers.org/omim/611953
MONDO:0012764	RIDDLE syndrome	biolink:Disease	mondo	MESH:C567453|EFO:0009055|Orphanet:420741|DOID:0090113|UMLS:C2677792|ICD10:D82.8|OMIM:611943	ordo_malformation_syndrome	radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties|RIDDLE syndrome|radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome|RNF168 deficiency	http://purl.obolibrary.org/obo/MONDO_0012764	An autosomal recessive disease characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature that has material basis in homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29.	ORPHA:420741|MESH:C567453|UMLS:C2677792|http://identifiers.org/omim/611943|DOID:0090113
MONDO:0036779	axillary neoplasm	biolink:Disease	mondo	UMLS:C1290308|SCTID:126639006|NCIT:C35749		axillary neoplasm|neoplasm of axilla|axilla tumor|tumor of axilla|axilla neoplasm	http://purl.obolibrary.org/obo/MONDO_0036779	A benign or malignant neoplasm that affects the structures of the axilla. Representative examples include axillary lipoma, axillary lymph node lymphoma, and metastatic carcinoma to the axillary lymph nodes.	UMLS:C1290308|NCIT:C35749|SNOMEDCT:126639006
MONDO:0010105	teratoma, pineal	biolink:Disease	mondo	MESH:C537401|UMLS:C1848902|OMIM:273120		teratoma, pineal	http://purl.obolibrary.org/obo/MONDO_0010105		UMLS:C1848902|http://identifiers.org/omim/273120|MESH:C537401
MONDO:0010104	non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome	biolink:Disease	mondo	SCTID:723442008|GARD:0005127|GARD:0005027|Orphanet:2972|OMIM:273050|UMLS:C1848903	ordo_malformation_syndrome|gard_rare	teeth noneruption of with maxillary hypoplasia and genu valgum|multiple non-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects|Stoelinga de Koomen Davis syndrome|non erupted teeth with maxillary hypoplasia and genu valgum|multiple none-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects|teeth, noneruption of, with maxillary hypoplasia and genu valgum|Stoelinga-de Koomen-Davis syndrome	http://purl.obolibrary.org/obo/MONDO_0010104	Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears.	MESH:C536952|UMLS:C2931509|UMLS:C1848903|MESH:C537496|http://identifiers.org/omim/273050|ORPHA:2972|SNOMEDCT:723442008
MONDO:0012765	lymphedema, hereditary, 1B	biolink:Disease	mondo	MESH:C567452|OMIM:611944|UMLS:C2677787|DOID:0070211		LMPH1B|lymphedema, hereditary, IB|lymphedema, hereditary, IB; LMPH1B	http://purl.obolibrary.org/obo/MONDO_0012765		DOID:0070211|MESH:C567452|UMLS:C2677787|http://identifiers.org/omim/611944
MONDO:0000769	chicken egg allergy	biolink:Disease	mondo	DOID:0060492		Gallus gallus egg allergy	http://purl.obolibrary.org/obo/MONDO_0000769	An egg allergy triggered by Gallus gallus eggs.	DOID:0060492
MONDO:0000768	obsolete Zika fever	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000768		
MONDO:0000767	obsolete nut midline carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000767		
HGNC:11782	TH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11782		
HGNC:11781	TGM5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11781		
GO:0099118	microtubule-based protein transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0099118	A microtubule-based process that results in the transport of proteins.	
MONDO:0000784	melon allergy	biolink:Disease	mondo	DOID:0060509		Cucumis melo fruit allergy	http://purl.obolibrary.org/obo/MONDO_0000784	A fruit allergy triggered by Cucumis melo plant fruit food product.	DOID:0060509
MONDO:0000783	orange allery	biolink:Disease	mondo	DOID:0060508		Citrus sinensis fruit allergy|orange allergy	http://purl.obolibrary.org/obo/MONDO_0000783	A fruit allergy triggered by Citrus sinensis plant fruit food product.	DOID:0060508
MONDO:0000782	Indian plum allergy	biolink:Disease	mondo	DOID:0060507		Ziziphus mauritiana fruit allergy	http://purl.obolibrary.org/obo/MONDO_0000782	A fruit allergy triggered by Ziziphus mauritiana plant fruit food product.	DOID:0060507
GO:0099124	axonal dopamine secretion	biolink:OntologyClass	mondo			axonal dopamine release|axonal DA release	http://purl.obolibrary.org/obo/GO_0099124	The regulated release of dopamine from an axon.	
MONDO:0000781	cherry allergy	biolink:Disease	mondo	DOID:0060506		Prunus avium fruit allergy	http://purl.obolibrary.org/obo/MONDO_0000781	A fruit allergy triggered by Prunus avium plant fruit food product.	DOID:0060506
MONDO:0000788	fish allergy	biolink:Disease	mondo	DOID:0060513		fish food product allergic disease|allergy of fish food product	http://purl.obolibrary.org/obo/MONDO_0000788	A allergy involving fish.	DOID:0060513
MONDO:0000787	tomato allergy	biolink:Disease	mondo	DOID:0060512		Solanum lycopersicum fruit allergy|Solanum lycopersicum allergic disease|allergy of Solanum lycopersicum|Solanum lycopersicum caused allergic disease	http://purl.obolibrary.org/obo/MONDO_0000787	A allergy involving a Solanum lycopersicum.	DOID:0060512
MONDO:0000786	plum allergy	biolink:Disease	mondo	DOID:0060511		Prunus domestica fruit allergy|Prunus domestica allergic disease|allergy of Prunus domestica|Prunus domestica caused allergic disease	http://purl.obolibrary.org/obo/MONDO_0000786	A allergy involving a Prunus domestica.	DOID:0060511
MONDO:0000785	peach allergy	biolink:Disease	mondo	DOID:0060510		Prunus persica fruit allergy|Prunus persica allergic disease|allergy of Prunus persica|Prunus persica caused allergic disease	http://purl.obolibrary.org/obo/MONDO_0000785	A allergy involving a Prunus persica.	DOID:0060510
MONDO:0009119	diverticulosis, small-intestinal	biolink:Disease	mondo	OMIM:223320|MESH:C565620|UMLS:C1857228		diverticulosis, small-intestinal	http://purl.obolibrary.org/obo/MONDO_0009119		UMLS:C1857228|MESH:C565620|http://identifiers.org/omim/223320
MONDO:0012748	primary ciliary dyskinesia 7	biolink:Disease	mondo	DOID:0110605|ICD10:Q34.8|OMIM:611884|MESH:C567504|UMLS:C2678473		ciliary dyskinesia, primary, type 7|DNAH11 primary ciliary dyskinesia|ciliary dyskinesia, primary, 7|primary ciliary dyskinesia type 7|primary ciliary dyskinesia caused by mutation in DNAH11|primary ciliary dyskinesia 7 with or without situs inversus|ciliary dyskinesia, primary, 7, with or without situs inversus|ciliary dyskinesia, primary, 7; CILD7|CILD7	http://purl.obolibrary.org/obo/MONDO_0012748	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH11 gene.	http://identifiers.org/omim/611884|DOID:0110605|UMLS:C2678473|MESH:C567504
MONDO:0009118	disseminated sclerosis with narcolepsy	biolink:Disease	mondo	OMIM:223300|MESH:C565621|UMLS:C1857229		disseminated sclerosis with narcolepsy	http://purl.obolibrary.org/obo/MONDO_0009118		UMLS:C1857229|MESH:C565621|http://identifiers.org/omim/223300
MONDO:0012749	mesomelic dysplasia, camera type	biolink:Disease	mondo	MESH:C567503|OMIM:611886|UMLS:C2678472		mesomelic dysplasia, camera type	http://purl.obolibrary.org/obo/MONDO_0012749		http://identifiers.org/omim/611886|UMLS:C2678472|MESH:C567503
MONDO:0009117	obsolete disorganization, mouse, homolog of	biolink:Disease	mondo	OMIM:223200|UMLS:C1857230		disorganization, mouse, homolog OF|Ds	http://purl.obolibrary.org/obo/MONDO_0009117		UMLS:C1857230|http://identifiers.org/omim/223200
MONDO:0009116	lactose intolerance (disease)	biolink:Disease	mondo	DOID:10604|UMLS:C0022951|ICD9:271.3|COHD:4143342|HP:0004789|ICD10:E73|EFO:1000062|SCTID:267425008|OMIM:223100|ICD10:E73.9|NCIT:C3154		adult lactase deficiency|lactase persistence|lactose intolerance, ADULT type|lactose intolerance|hypolactasia, adult type|LM - lactose malabsorption|disaccharide intolerance 3	http://purl.obolibrary.org/obo/MONDO_0009116	Inability to fully digest and absorb lactose due to limited or no lactase activity in the small intestine. Congenital intolerance is inherited following an autosomal recessive pattern but is rare. It is more often due to a gradual decline of lactase production in adulthood following the ingestion of fewer lactose-containing foods or secondary to an intestinal mucosal brush-border injury. Prevalence is highest among Asians, Native Americans and Africans. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following the dietary intake of lactose.	http://identifiers.org/omim/223100|UMLS:C0022951|SNOMEDCT:267425008|NCIT:C3154|DOID:10604
MONDO:0012746	dilated cardiomyopathy 2A	biolink:Disease	mondo	UMLS:C2678474|OMIM:611880|DOID:0110460|ICD10:I42.0		cardiomyopathy, dilated, 2A; CMD2A|dilated cardiomyopathy type 2A|cardiomyopathy, dilated, type 2A|cardiomyopathy, dilated, autosomal recessive|cardiomyopathy, dilated, 2A|cardiomyopathy, congestive, autosomal recessive|CMD2A	http://purl.obolibrary.org/obo/MONDO_0012746	A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.	http://identifiers.org/omim/611880|DOID:0110460|UMLS:C2678474
MONDO:0012747	glycogen storage disease due to aldolase A deficiency	biolink:Disease	mondo	ICD9:282.3|GARD:0000600|UMLS:C0272066|SCTID:111578003|MESH:C562718|Orphanet:57|ICD10:E74.0|OMIM:611881	ordo_disease	glycogenosis due to aldolase A deficiency|glycogenosis type XII|glycogen storage disease XII; GSD12|GSD12|GSD type 12|aldolase deficiency, Red cell|aldolase deficiency red cell|glycogen storage disease type 12|glycogen storage disease type XII|Aldoa deficiency|GSD type XII|Red cell aldolase deficiency|GSD due to aldolase A deficiency|glycogen storage disease 12|aldolase a deficiency|glycogen storage disease XII|GSD 12|glycogenosis type 12	http://purl.obolibrary.org/obo/MONDO_0012747	Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported.	http://identifiers.org/omim/611881|ORPHA:57|UMLS:C0272066|MESH:C562718|SNOMEDCT:111578003
MONDO:0009115	congenital lactase deficiency	biolink:Disease	mondo	OMIM:223000|ICD9:271.3|Orphanet:53690|GARD:0012311|DOID:0111646|SCTID:5388008|ICD10:E73.0|MESH:C562600	gard_rare|ordo_disease	Alactasia, congenital|lactase deficiency, congenital|disaccharide intolerance 2	http://purl.obolibrary.org/obo/MONDO_0009115	Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula.	SNOMEDCT:5388008|DOID:0111646|ORPHA:53690|http://identifiers.org/omim/223000|MESH:C562600|UMLS:C0268179
MONDO:0000780	apricot allergy	biolink:Disease	mondo	DOID:0060505		Prunus armeniaca caused allergic disease|allergy of Prunus armeniaca|Prunus armeniaca fruit allergy|Prunus armeniaca allergic disease	http://purl.obolibrary.org/obo/MONDO_0000780	A allergy involving a Prunus armeniaca.	DOID:0060505
MONDO:0009114	congenital sucrase-isomaltase deficiency	biolink:Disease	mondo	MedDRA:10066387|GARD:0006183|MESH:C538139|OMIM:222900|DOID:0111633|SCTID:78373000|ICD9:271.3|GARD:0007710|ICD10:E74.3|Orphanet:35122|UMLS:C1283620|NCIT:C128190	ordo_disease|gard_rare	sucrase-isomaltase deficiency, congenital; CSID|sucrase-alpha-dextrinase deficiency|congenital sucrose intolerance|disaccharide intolerance|SI deficiency|disaccharide intolerance i|congenital sucrose-isomaltase malabsorption|sucrose isomaltose enzyme deficiency|congenital sucrose-isomaltase intolerance|sucrose intolerance, congenital|genetic sucrase-isomaltose malabsorption|disaccharide intolerance, 1|sucrase-isomaltase deficiency|sucrase-isomaltase deficiency, congenital|disaccharide intolerance 1|intestinal sucrase-a-dextrinase deficiency|sucrose-isomaltose malabsorption, congenital|sucrose-isomaltase malabsorption, congenital|sucrose intolerance congenital|invertase deficiency|congenital sucrose malabsorption|CSID|congenital sucrase-isomaltose malabsorption	http://purl.obolibrary.org/obo/MONDO_0009114	A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterised by malabsorption of sucrose and maltose.	UMLS:C1283620|NCIT:C128190|DOID:0111633|SNOMEDCT:78373000|ORPHA:35122|MESH:C538139|MEDDRA:10066387|http://identifiers.org/omim/222900
MONDO:0009113	hemolytic anemia due to diphosphoglycerate mutase deficiency	biolink:Disease	mondo	GARD:0001874|NCIT:C131638|OMIM:222800|DOID:0111630|ICD10:D55.2|UMLS:C1291620|Orphanet:714	ordo_disease	bisphosphoglyceromutase deficiency|diphosphoglycerate phosphatase deficiency|bisphosphoglycerate mutase deficiency|diphosphoglycerate mutase deficiency of erythrocyte|DPGM deficiency|BPGM deficiency	http://purl.obolibrary.org/obo/MONDO_0009113	A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly.	ORPHA:714|DOID:0111630|NCIT:C131638|UMLS:C1291620|http://identifiers.org/omim/222800
MONDO:0009112	rhizomelic chondrodysplasia punctata type 2	biolink:Disease	mondo	Orphanet:309796|GARD:0009429|DOID:0110852|OMIM:222765|UMLS:C1857242|ICD10:Q77.3|MESH:C537607	gard_rare|ordo_etiological_subtype	Dihydroxyacetonephosphate acyltransferase deficiency|Glyceronephosphate O-acyltransferase deficiency|chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate|type 2 rhizomelic chondrodysplasia punctata|chondrodysplasia punctata, rhizomelic, due to Dihydroxyacetonephosphate acyltransferase deficiency|rhizomelic chondrodysplasia punctata, type 2|rhizomelic chondrodysplasia punctata, type 2; RCDP2|Gnpat deficiency|peroxisomal Dihydroxyacetonephosphate acyltransferase deficiency|rhizomelic chondrodysplasia punctata caused by mutation in GNPAT|Rcdp2|Dhapat deficiency|GNPAT rhizomelic chondrodysplasia punctata|RCDP2	http://purl.obolibrary.org/obo/MONDO_0009112	Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene.	MESH:C537607|DOID:0110852|ORPHA:309796|http://identifiers.org/omim/222765|UMLS:C1857242
HP:0001959	Polydipsia	biolink:PhenotypicFeature	mondo	MSH:D059606|UMLS:C0085602|SNOMEDCT_US:267026004|SNOMEDCT_US:17173007		Extreme thirst	http://purl.obolibrary.org/obo/HP_0001959	Excessive thirst manifested by excessive fluid intake.	
MONDO:0009111	dihydropyrimidinuria	biolink:Disease	mondo	OMIM:222748|GARD:0012347|ICD10:E79.8|ICD9:277.2|Orphanet:38874|SCTID:238014002|DOID:0111629	ordo_disease	DPYSD|Dpys deficiency|dihydropyrimidinase deficiency; DPYSD|Dph deficiency|dihydropyrimidinuria|dihydropyrimidinase deficiency	http://purl.obolibrary.org/obo/MONDO_0009111	Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.	SNOMEDCT:238014002|DOID:0111629|ORPHA:38874|http://identifiers.org/omim/222748
MONDO:0012751	AAA3	biolink:Disease	mondo	OMIM:611891|UMLS:C2678470|MESH:C567501		aortic aneurysm, familial abdominal, 3|AAA3|aortic aneurysm, familial abdominal, 3; AAA3	http://purl.obolibrary.org/obo/MONDO_0012751		UMLS:C2678470|MESH:C567501|http://identifiers.org/omim/611891
MONDO:0009110	dicarboxylic aminoaciduria	biolink:Disease	mondo	DOID:0060650|ICD10:E72.0|OMIM:222730|MESH:C536171|SCTID:716747007|GARD:0001855|UMLS:C1857253|Orphanet:2195	gard_rare|ordo_disease	dicarboxylic aminoaciduria; DCBXA|Dicarboxylicaminoaciduria|dicarboxylic aminoaciduria|glutamate-aspartate Transport defect|DCBXA|glutamate-aspartate transport defect	http://purl.obolibrary.org/obo/MONDO_0009110	Dicarboxylicaminoaciduria is characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit.	MESH:C536171|DOID:0060650|SNOMEDCT:716747007|http://identifiers.org/omim/222730|ORPHA:2195|UMLS:C1857253
MONDO:0034121	NAD(P)HX dehydratase deficiency	biolink:Disease	mondo	OMIM:618321|Orphanet:555402	ordo_disease	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2; PEBEL2	http://purl.obolibrary.org/obo/MONDO_0034121		ORPHA:555402|http://identifiers.org/omim/618321
HGNC:11796	THRA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11796		
MONDO:0012752	ANIB6	biolink:Disease	mondo	OMIM:611892|UMLS:C2678469|MESH:C567500		ANIB6|aneurysm, intracranial BERRY, 6; ANIB6|aneurysm, intracranial BERRY, 6	http://purl.obolibrary.org/obo/MONDO_0012752		UMLS:C2678469|MESH:C567500|http://identifiers.org/omim/611892
HGNC:11795	THPO	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11795		
MONDO:0012750	lethal arthrogryposis-anterior horn cell disease syndrome	biolink:Disease	mondo	Orphanet:53696|SCTID:715565004|UMLS:C2678471|MESH:C567502|OMIM:611890	ordo_malformation_syndrome	lethal arthrogryposis with anterior horn cell disease; LAAHD|LAAHD|Vuopala disease|lethal arthrogryposis with anterior horn cell disease	http://purl.obolibrary.org/obo/MONDO_0012750		ORPHA:53696|SNOMEDCT:715565004|UMLS:C2678471|MESH:C567502|http://identifiers.org/omim/611890
MONDO:0012755	episodic ataxia type 7	biolink:Disease	mondo	ICD10:G11.8|UMLS:C2677843|OMIM:611907|Orphanet:209970|MESH:C567459|SCTID:718752007|DOID:0050995	ordo_disease	episodic ataxia, type 7; EA7|episodic ataxia, type 7|EA7	http://purl.obolibrary.org/obo/MONDO_0012755	Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings.	http://identifiers.org/omim/611907|DOID:0050995|SNOMEDCT:718752007|MESH:C567459|UMLS:C2677843|ORPHA:209970
HP:0001952	Glucose intolerance	biolink:PhenotypicFeature	mondo	UMLS:C0235401		Glucose intolerance|Abnormal glucose tolerance	http://purl.obolibrary.org/obo/HP_0001952	Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM).	
MONDO:0012756	proximal 16p11.2 microdeletion syndrome	biolink:Disease	mondo	UMLS:CN202166|MESH:C579850|SCTID:718227006|ICD10:Q93.5|SCTID:699307007|Orphanet:261197|NCIT:C120408|GARD:0010740|OMIM:611913|ICD9:758.39	ordo_malformation_syndrome|gard_rare|predisposition	Del(16)(p11.2)|proximal monosomy 16p11.2|16p11.2 deletion syndrome|microdeletion 16p11.2|proximal del(16)(p11.2)|chromosome 16p11.2 deletion syndrome, 593-KB|chromosome 16p11.2 deletion syndrome|monosomy 16p11.2|autism, susceptibility to, 14A	http://purl.obolibrary.org/obo/MONDO_0012756	The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.	SNOMEDCT:718227006|http://identifiers.org/omim/611913|SNOMEDCT:699307007|ORPHA:261197|UMLS:CN202166|NCIT:C120408|MESH:C579850
HGNC:11799	THRB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11799		
MONDO:0012753	amyotrophic lateral sclerosis type 9	biolink:Disease	mondo	UMLS:C2678468|OMIM:611895|GARD:0010498|MESH:C567499|DOID:0060200	gard_rare	amyotrophic lateral sclerosis 9|ALS9|ANG amyotrophic lateral sclerosis|amyotrophic lateral sclerosis 9; ALS9|amyotrophic lateral sclerosis type 9|amyotrophic lateral sclerosis caused by mutation in ANG	http://purl.obolibrary.org/obo/MONDO_0012753	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ANG gene.	DOID:0060200|UMLS:C2678468|MESH:C567499|http://identifiers.org/omim/611895
MONDO:0012754	NNO3	biolink:Disease	mondo	MESH:C567498|UMLS:C2678467|OMIM:611897		nanophthalmos 3|nanophthalmos 3; NNO3|Nanophthalmia 3|NNO3	http://purl.obolibrary.org/obo/MONDO_0012754		UMLS:C2678467|MESH:C567498|http://identifiers.org/omim/611897
MONDO:0034127	IgA pemphigus	biolink:Disease	mondo	Orphanet:555905	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0034127		ORPHA:555905
MONDO:0000779	apple allergy	biolink:Disease	mondo	DOID:0060504		Malus domestica caused allergic disease|allergy of Malus domestica|Malus domestica allergic disease|Malus domestica fruit allergy	http://purl.obolibrary.org/obo/MONDO_0000779	A allergy involving a Malus domestica.	DOID:0060504
MONDO:0000778	fruit allergy	biolink:Disease	mondo	DOID:0060503			http://purl.obolibrary.org/obo/MONDO_0000778	A food allergy triggered by a plant fruit product.	DOID:0060503
UBERON:0008397	tracheobronchial epithelium	biolink:AnatomicalEntity	mondo			bronchotracheal epithelium	http://purl.obolibrary.org/obo/UBERON_0008397	Epithelium pertaining to the trachea and bronchi.	
MONDO:0036781	benign axillary neoplasm	biolink:Disease	mondo	NCIT:C35750|UMLS:C0684828		benign axillary neoplasm|axillary neoplasm, benign	http://purl.obolibrary.org/obo/MONDO_0036781	A non-metastasizing neoplasm that arises from the structures of the axilla.	NCIT:C35750|UMLS:C0684828
HGNC:11791	TCHH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11791		
MONDO:0034122	obsolete NAD(P)HX epimerase deficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0034122		
MONDO:0022145	obsolete Chiari malformation type II	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0022145		
GO:0099177	regulation of trans-synaptic signaling	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0099177	Any process that modulates the frequency, rate or extent of trans-synaptic signaling.	
GO:0099171	presynaptic modulation of chemical synaptic transmission	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0099171	Any process, acting in the presynapse that results in modulation of chemical synaptic transmission.	
HGNC:11758	TFG	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11758		
MONDO:0009169	endocardial fibroelastosis	biolink:Disease	mondo	ICD10:I42.4|OMIM:226000|Orphanet:2022|UMLS:C0014117|NCIT:C98922|MESH:D004695|EFO:0007251|MedDRA:10014663|COHD:314370|DOID:12929|SCTID:65457005|ICD9:425.3|GARD:0006336	ordo_disease|gard_rare	endocardial fibroelastosis|EFE|endomyocardial fibroelastosis|Elastomyofibrosis|endocardial fibroelastosis; EFE	http://purl.obolibrary.org/obo/MONDO_0009169	Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia.	NCIT:C98922|DOID:12929|MEDDRA:10014663|MESH:D004695|ORPHA:2022|UMLS:C0014117|http://identifiers.org/omim/226000|SNOMEDCT:65457005
MONDO:0009168	Fowler syndrome	biolink:Disease	mondo	DOID:0111666|MESH:C565593|SCTID:700242002|MedDRA:10071718|ICD9:596.59|OMIM:225790|Orphanet:221126	ordo_malformation_syndrome	PVHH|proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome; PVHH|hydranencephaly, fowler type|proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome|cerebral proliferative glomeruloid vasculopathy|hydrocephaly/hydranencephaly due to cerebral vasculopathy|Encephaloclastic proliferative vasculopathy|proliferative vasculopathy and hydranencephaly/hydrocephaly	http://purl.obolibrary.org/obo/MONDO_0009168		http://identifiers.org/omim/225790|ORPHA:221126|SNOMEDCT:700242002|UMLS:C3203738|MEDDRA:10071718|MESH:C565593|DOID:0111666
MONDO:0022140	Charles bonnet syndrome	biolink:Disease	mondo	GARD:0010343|SCTID:193756007|UMLS:C0339731	gard_rare	CBS|charles bonnet syndrome	http://purl.obolibrary.org/obo/MONDO_0022140	Charles Bonnet syndrome (CBS) refers to the presenceof visual hallucinations in individuals with visual acuity loss without havingpsychosis or dementia. The condition is likely caused by the brain continuing to interpret images, even in their absence. Underlying conditions of vision loss associated with Charles Bonnet syndrome are diverse (including conditions such as macular degeneration and stroke) and may affect the eye, optic nerve, or brain. Hallucinations often resolve if the underlying vision deficit is corrected and can also remit in some individuals with static or progressive vision loss. Treatment is individualized.	UMLS:C0339731|SNOMEDCT:193756007
GO:0099170	postsynaptic modulation of chemical synaptic transmission	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0099170	Any process, acting in the postsynapse that results in modulation of chemical synaptic transmission.	
MONDO:0009167	Bonnemann-Meinecke-Reich syndrome	biolink:Disease	mondo	UMLS:C1856973|OMIM:225755|ICD10:Q04.8|SCTID:733049004|Orphanet:1261|GARD:0002113|MESH:C565594	gard_rare|ordo_malformation_syndrome	Bonnemann Meinecke Reich syndrome|encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration|encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration|encephalopathy-intracerebral calcification-retinal degeneration syndrome	http://purl.obolibrary.org/obo/MONDO_0009167	Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991.	http://identifiers.org/omim/225755|SNOMEDCT:733049004|ORPHA:1261|MESH:C565594|UMLS:C1856973
MONDO:0009166	pontocerebellar hypoplasia type 4	biolink:Disease	mondo	DOID:0060273|UMLS:C1856974|Orphanet:166063|MESH:C536716|SCTID:718608006|OMIM:225753|ICD10:Q04.3|GARD:0000343	ordo_malformation_syndrome|gard_rare	PCH4|pontocerebellar hypoplasia, type 4|encephalopathy fatal infantile with olivopontocerebellar hypoplasia|encephalopathy, fatal infantile, with olivopontocerebellar Hypoplasia|pontocerebellar hypoplasia, type 4; PCH4|fatal infantile encephalopathy with olivopontocerebellar hypoplasia|olivopontocerebellar hypoplasia	http://purl.obolibrary.org/obo/MONDO_0009166	Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.	ORPHA:166063|SNOMEDCT:718608006|MESH:C536716|UMLS:C1856974|DOID:0060273|http://identifiers.org/omim/225753
MONDO:0009165	Aicardi-Goutieres syndrome 1	biolink:Disease	mondo	UMLS:C0796126|OMIM:225750|GARD:0010893		Aicardi-Goutieres syndrome 1|Aicardi-Goutieres syndrome caused by mutation in TREX1|Ags|Aicardi-Goutieres syndrome 1; AGS1|encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis|Aicardi-Goutieres syndrome 1, autosomal dominant|Cree encephalitis|Pseudotoxoplasmosis syndrome|TREX1 Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome type 1|AGS1	http://purl.obolibrary.org/obo/MONDO_0009165	Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the TREX1 gene.	UMLS:C0796126|http://identifiers.org/omim/225750
MONDO:0010165	ulna hypoplasia-intellectual disability syndrome	biolink:Disease	mondo	UMLS:C2931370|OMIM:276821|UMLS:C1848650|GARD:0005398|MESH:C564757|ICD10:Q87.2|Orphanet:2249	ordo_malformation_syndrome	mesomelia of the upper limbs, anonychia congenita, clubfeet, and mental retardation|bilateral ulnar hypoplasia and intellectual disability|bilateral ulnar hypoplasia and mental retardation|mesomelia of the upper limbs, anonychia congenita, clubfeet, and intellectual disability|ulnar hypoplasia with mental retardation|ulna hypoplasia with mental retardation|mesomelia of the upper limbs, absent nails, clubfeet, and intellectual disability|mesomelia of the upper limbs, absent nails, clubfeet, and mental retardation|ulna hypoplasia with intellectual disability|ulnar hypoplasia with intellectual disability	http://purl.obolibrary.org/obo/MONDO_0010165	Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.	MESH:C536934|MESH:C564757|UMLS:C2931370|UMLS:C1848650|ORPHA:2249|http://identifiers.org/omim/276821
HGNC:11764	TG	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11764		
MONDO:0010164	phocomelia, Schinzel type	biolink:Disease	mondo	MESH:C535612|ICD10:Q87.2|GARD:0009212|GARD:0005124|OMIM:276820|Orphanet:2879|SCTID:715522000	gard_rare|ordo_malformation_syndrome	Teebi Naguib Al Awadi syndrome|severe limb deficit|aplasia/hypoplasia of limbs and pelvis|profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence|Al-Awadi/Raas-Rothschild syndrome|limb/pelvis-hypoplasia/aplasia syndrome|Schinzel phocomelia syndrome|Al-Awadi-Raas-Rothschild syndrome|Al Awadi Teebi Farag syndrome|absence of ulna and fibula with severe limb deficiency|ulna and fibula, absence of, with severe limb deficiency|Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome|congenital absence of ulna and fibula|ulna and fibula absence of with severe limb deficiency|Al Awadi-Raas-Rothschild syndrome|AARRS	http://purl.obolibrary.org/obo/MONDO_0010164	Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder.	ORPHA:2879|MESH:C535612|SNOMEDCT:715522000|http://identifiers.org/omim/276820
HGNC:11763	TFRC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11763		
MONDO:0009164	encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts	biolink:Disease	mondo	OMIM:225740|UMLS:C1856990|MESH:C565596		encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts|Lyon syndrome	http://purl.obolibrary.org/obo/MONDO_0009164		UMLS:C1856990|MESH:C565596|http://identifiers.org/omim/225740
MONDO:0010167	urocanic aciduria (disease)	biolink:Disease	mondo	UMLS:C0268514|SCTID:60952007|MESH:C536479|GARD:0008539|HP:0012237|Orphanet:210128|ICD10:E70.8|OMIM:276880	ordo_disease	urocanic aciduria|urocanase deficiency; UROCD|UROCD|encephalopathy due to urocanase deficiency|urocanase deficiency	http://purl.obolibrary.org/obo/MONDO_0010167	Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date.	http://identifiers.org/omim/276880|MESH:C536479|ORPHA:210128|SNOMEDCT:60952007|UMLS:C0268514
MONDO:0009163	encephalomalacia, multilocular	biolink:Disease	mondo	OMIM:225700|MESH:C565597|UMLS:C1856991		encephalomalacia, multilocular	http://purl.obolibrary.org/obo/MONDO_0009163		UMLS:C1856991|MESH:C565597|http://identifiers.org/omim/225700
HGNC:11762	TFR2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11762		
MONDO:0009162	Ellis-van Creveld syndrome	biolink:Disease	mondo	UMLS:C0013903|OMIM:225500|SCTID:62501005|ICD9:756.55|Orphanet:289|MedDRA:10008724|GARD:0001301|DOID:12714|ICD10:Q77.6|UMLS:CN239258|NCIT:C84684|MESH:D004613	gard_rare|ordo_malformation_syndrome	Ellis-van Creveld syndrome|Chondroectodermal dysplasia|Ellis-VAN Creveld syndrome; EVC|mesodermic dysplasia|Ellis Van Creveld syndrome|Mesoectodermal dysplasia|EVC	http://purl.obolibrary.org/obo/MONDO_0009162	Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.	NCIT:C84684|MESH:D004613|SNOMEDCT:62501005|UMLS:CN239258|MEDDRA:10008724|ORPHA:289|UMLS:C0013903|http://identifiers.org/omim/225500|DOID:12714
MONDO:0010166	ulnar agenesis and endocardial fibroelastosis	biolink:Disease	mondo	UMLS:C1848649|OMIM:276822|MESH:C564756		ulnar agenesis and endocardial fibroelastosis	http://purl.obolibrary.org/obo/MONDO_0010166		MESH:C564756|UMLS:C1848649|http://identifiers.org/omim/276822
MONDO:0010169	Usher syndrome type 2A	biolink:Disease	mondo	MESH:C536490|OMIM:276901|DOID:0110838|UMLS:C1848634|ICD10:H35.5|GARD:0005440		Usher syndrome, type 2A|USHER syndrome, type IIA|USH2A|USH2A Usher syndrome|Usher syndrome caused by mutation in USH2A|Usher syndrome type IIA|USHER syndrome, type IIA; USH2A|US2	http://purl.obolibrary.org/obo/MONDO_0010169	Any Usher syndrome in which the cause of the disease is a mutation in the USH2A gene.	http://identifiers.org/omim/276901|MESH:C536490|DOID:0110838|UMLS:C1848634
MONDO:0009161	Ehlers-Danlos syndrome, dermatosparaxis type	biolink:Disease	mondo	SCTID:55711009|GARD:0002089|ICD10:Q79.6|OMIM:225410|MESH:C567527|Orphanet:1901	ordo_disease	dermatosparaxis|Ehlers-Danlos syndrome, dermatosparaxis type; EDSDERMS|EDS VIIC|EDS 7C|dermatosparaxis EDS|dermatosparaxis Ehlers-Danlos syndrome|EDSDERMS|Ehlers-Danlos syndrome, dermatosparaxis type|Ehlers-Danlos syndrome, type VII, autosomal recessive|dEDS|Ehlers-Danlos syndrome type 7C (formerly)|EDS7C|Ehlers-Danlos syndrome type 7C	http://purl.obolibrary.org/obo/MONDO_0009161	A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility.	SNOMEDCT:55711009|UMLS:C2700425|MESH:C567527|ORPHA:1901|http://identifiers.org/omim/225410
NCBITaxon:640628	Poinae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_640628		
HGNC:11768	TGFB2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11768		
MONDO:0010168	Usher syndrome type 1	biolink:Disease	mondo	GARD:0005435|DOID:0110826|SCTID:232057003|Orphanet:231169|GARD:0005436|ICD10:H35.5|OMIM:276900|NCIT:C126327	clingen|ordo_clinical_subtype|gard_rare	Usher syndrome, type I, French variety|USH1|retinitis pigmentosa and congenital deafness|USH1A|Usher syndrome, type 1|Usher syndrome, type 1A|US1|Usher syndrome, type Ia, formerly|Usher syndrome, type Ia|USHER syndrome, type I; USH1|USHER syndrome, type I|Usher syndrome, type I, French variety, formerly|Usher syndrome, type 1B	http://purl.obolibrary.org/obo/MONDO_0010168	A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa.	http://identifiers.org/omim/276900|UMLS:C0339533|NCIT:C126327|DOID:0110826|SNOMEDCT:232057003|ORPHA:231169
MONDO:0009160	obsolete Ehlers-Danlos syndrome, type 6	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0009160		
HGNC:11766	TGFB1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11766		
HP:0011339	Abnormality of upper lip vermillion	biolink:PhenotypicFeature	mondo	UMLS:C4023406		Anomaly of the upper lip vermillion|Abnormality of the red part of the upper lip|Deformity of the upper lip vermillion|Malformation of the upper lip vermillion	http://purl.obolibrary.org/obo/HP_0011339	An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin.	
MONDO:0010161	tyrosinemia type I	biolink:Disease	mondo	MedDRA:10069462|Orphanet:882|ICD10:E70.2|UMLS:C0268490|SCTID:410056006|DOID:0050726|NCIT:C98641|OMIM:276700|GARD:0002658	gard_rare|ordo_disease	type I tyrosinemia|fumarylacetoacetate hydrolase deficiency|tyrosinemia type I|FAH deficiency|hepatorenal tyrosinemia|fumarylacetoacetase deficiency|Fah deficiency|tyrosinemia, type I; TYRSN1|TYRSN1|tyrosinemia type 1|tyrosinemia, type I|tyrosinemia, type 1	http://purl.obolibrary.org/obo/MONDO_0010161	Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.	SNOMEDCT:410056006|DOID:0050726|ORPHA:882|NCIT:C98641|MEDDRA:10069462|UMLS:C0268490|http://identifiers.org/omim/276700
MONDO:0010160	tyrosinemia type II	biolink:Disease	mondo	GARD:0003105|MedDRA:10069463|SCTID:4887000|NCIT:C129032|Orphanet:28378|DOID:0050725|ICD10:E70.2|OMIM:276600	gard_rare|ordo_disease	keratosis palmoplantaris-corneal dystrophy syndrome|Tyrosinosis, oculocutaneous type|Richner-Hanhart syndrome|tyrosine transaminase deficiency|tyrosinemia type 2|tyrosine aminotransferase deficiency|Oregon type tyrosinemia|keratosis palmoplantaris with corneal dystrophy|tyrosinemia, type II; TYRSN2|Richner Hanhart syndrome|tyrosinemia due to TAT deficiency|TYRSN2|tyrosinemia, type II|tyrosinemia, type 2|tyrosinemia due to tyrosine aminotransferase deficiency|oculocutaneous tyrosinemia|Tyrosinosis oculocutaneous type|tyrosinemia type II|Tat deficiency	http://purl.obolibrary.org/obo/MONDO_0010160	Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.	SNOMEDCT:4887000|DOID:0050725|MEDDRA:10069463|http://identifiers.org/omim/276600|NCIT:C129032|ORPHA:28378
MONDO:0010163	Tyrosinosis	biolink:Disease	mondo	ICD9:270.2|UMLS:C0268484|OMIM:276800|MESH:C562659|SCTID:57414003		Tyrosinosis	http://purl.obolibrary.org/obo/MONDO_0010163		SNOMEDCT:57414003|MESH:C562659|UMLS:C0268484|http://identifiers.org/omim/276800
MONDO:0010162	tyrosinemia type III	biolink:Disease	mondo	ICD9:270.2|Orphanet:69723|GARD:0010332|MedDRA:10069461|ICD10:E70.2|SCTID:415764005|DOID:0050727|OMIM:276710|UMLS:C0268623	gard_rare|ordo_disease	4-alpha hydroxyphenylpyruvate dioxygenase deficiency|tyrosinemia type 3|4-alpha hydroxyphenylpyruvic acid oxidase deficiency|tyrosinemia type III|tyrosinemia, type III; TYRSN3|tyrosinemia due to HPD deficiency|TYRSN3|tyrosinemia, type III|4-Hydroxyphenylpyruvate dioxygenase deficiency|tyrosinemia, type 3|tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency|4-Hydroxyphenylpyruvic acid oxidase deficiency|tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency	http://purl.obolibrary.org/obo/MONDO_0010162	Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate.	ORPHA:69723|DOID:0050727|MEDDRA:10069461|SNOMEDCT:415764005|UMLS:C0268623|http://identifiers.org/omim/276710
MONDO:0024797	adult brain stem neoplasm	biolink:Disease	mondo	UMLS:C1332192|NCIT:C5967		tumor of adult brain stem|tumor of adult brainstem|tumor of the adult brain stem|adult brain stem neoplasm|adult brainstem neoplasm|neoplasm of the adult brainstem|neoplasm of adult brain stem|neoplasm of adult brainstem|neoplasm of the adult brain stem|adult brain stem tumor|adult brainstem tumor|brainstem neoplasm of adults|tumor of the adult brainstem	http://purl.obolibrary.org/obo/MONDO_0024797	A brainstem neoplasm that occurs in an adult.	UMLS:C1332192|NCIT:C5967
HGNC:23752	CERS3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23752		
HGNC:11769	TGFB3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11769		
MONDO:0009179	recessive dystrophic epidermolysis bullosa	biolink:Disease	mondo	Orphanet:79408|OMIM:226600|SCTID:48528004|ICD10:Q81.2|ICD9:757.39|DOID:0060642|GARD:0006308	ordo_disease	RDEB, Hallopeau-Siemens type|RDEB|RDEB generalisata gravis|dystrophic epidermolysis bullosa, autosomal recessive|epidermolysis bullosa dystrophica, Hallopeau-Siemens type|RDEB, severe generalized|epidermolysis bullosa dystrophica, autosomal recessive; RDEB|autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type|epidermolysis bullosa dystrophica inversa, autosomal recessive|severe generalized RDEB|autosomal recessive dystrophic epidermolysis bullosa generalisata gravis|epidermolysis bullosa dystrophica, autosomal recessive, Localisata variant|RDEB-sev gen|epidermolysis bullosa dystrophica, generalized severe, autosomal recessive|autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly)|severe generalized RDEB|recessive dystrophic epidermolysis bullosa, severe generalized|severe generalized recessive dystrophic epidermolysis bullosa|epidermolysis bullosa dystrophica, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009179	Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.	http://identifiers.org/omim/226600|ORPHA:79408|SNOMEDCT:48528004|DOID:0060642
MONDO:0009178	epidermolysis bullosa dystrophica Neurotrophica	biolink:Disease	mondo	MESH:C562637|SCTID:254176007|OMIM:226500|ICD9:757.39		epidermolysis bullosa progressiva, recessive|epidermolysis bullosa dystrophica Neurotrophica|epidermolysis bullosa with congenital deafness	http://purl.obolibrary.org/obo/MONDO_0009178		MESH:C562637|http://identifiers.org/omim/226500|SNOMEDCT:254176007
MONDO:0009177	late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome	biolink:Disease	mondo	MESH:C535492|ICD10:Q81.8|OMIM:226440|Orphanet:231556|UMLS:C1856969|GARD:0000299	ordo_disease	epidermolysis bullosa, late-onset localized junctional, with intellectual disability|epidermolysis bullosa, late-onset localized junctional, with mental retardation|epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders	http://purl.obolibrary.org/obo/MONDO_0009177		ORPHA:231556|UMLS:C1856969|http://identifiers.org/omim/226440|MESH:C535492
MONDO:0010154	trigonocephaly-bifid nose-acral anomalies syndrome	biolink:Disease	mondo	ICD10:Q87.0|UMLS:C1848743|GARD:0005126|GARD:0005277|OMIM:275595|MESH:C564759|Orphanet:3368	ordo_malformation_syndrome	trigonocephaly - bifid nose - acral anomalies|trigonobrachycephaly, bulbous bifid nose, macrostomia, micrognathia, acral anomalies, and hypotonia|trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet	http://purl.obolibrary.org/obo/MONDO_0010154	Trigonocephaly-bifid nose-acral anomalies syndrome is characterized by trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges.	http://identifiers.org/omim/275595|MESH:C564759|UMLS:C1848743|ORPHA:3368
MONDO:0009176	epidermodysplasia verruciformis	biolink:Disease	mondo	NCIT:C126877|Orphanet:302|UMLS:C0014522|ICD9:757.8|OMIM:226400|ICD10:B07|MESH:D004819|MedDRA:10052339|OMIMPS:226400|ICD9:078.19|DOID:13777|GARD:0006357|SCTID:19138001	ordo_disease|gard_rare	epidermodysplasia verruciformis; EV|Lewandowsky-Lutz dysplasia|ever|Lewandowsky-Lutz syndrome|epidermodysplasia verruciformis|Lutz-Lewandowsky epidermodysplasia verruciformis|EV	http://purl.obolibrary.org/obo/MONDO_0009176	Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer.	MESH:D004819|UMLS:C0014522|MEDDRA:10052339|ORPHA:302|http://identifiers.org/omim/226400|DOID:13777|SNOMEDCT:19138001|NCIT:C126877
MONDO:0009175	eosinophilic fasciitis (disease)	biolink:Disease	mondo	MedDRA:10014954|ICD9:728.89|NCIT:C112116|ICD10:M35.4|SCTID:24129002|GARD:0006351|OMIM:226350|HP:0045029|UMLS:C0264005|Orphanet:3165	ordo_disease	Shulman syndrome|diffuse fasciitis with eosinophilia|EF|eosinophilic fasciitis	http://purl.obolibrary.org/obo/MONDO_0009175	Eosinophilic fasciitis is a rare connective tissue disease that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed.	ORPHA:3165|MEDDRA:10014954|SNOMEDCT:24129002|UMLS:C0264005|http://identifiers.org/omim/226350|NCIT:C112116
MONDO:0010153	trichoodontoonychial dysplasia	biolink:Disease	mondo	MESH:C564760|UMLS:C3502453|SCTID:766813000|GARD:0005267|OMIM:275450|Orphanet:3355	ordo_malformation_syndrome|gard_rare	trichoodontoonychial dysplasia with bone deficiency in frontoparietal region|trichoodontoonychial dysplasia with bone deficiency	http://purl.obolibrary.org/obo/MONDO_0010153	Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.	http://identifiers.org/omim/275450|SNOMEDCT:766813000|UMLS:C3502453|MESH:C564760|ORPHA:3355
MONDO:0009174	protein-losing enteropathy (disease)	biolink:Disease	mondo	HP:0002243|Orphanet:566175|UMLS:C0033680|OMIM:226300|ICD9:579.8|DOID:10611|MESH:D011504|SCTID:22542007		CHAPLE|enteropathy, exudative|enteropathy, PROTEIN-losing|protein-losing enteropathy|complement hyperactivation, ANGIOPATHIC thrombosis, and PROTEIN-losing enteropathy; CHAPLE|exudative enteropathy|complement hyperactivation, Angiopathic thrombosis, and Protein-losing enteropathy	http://purl.obolibrary.org/obo/MONDO_0009174	Pathological conditions in the intestines that are characterized by the gastrointestinal loss of serum proteins, including serum albumin; immunoglobulins; and at times lymphocytes. Severe condition can result in hypogammaglobulinemia or lymphopenia. Protein-losing enteropathies are associated with a number of diseases including intestinal lymphangiectasis; whipple'S disease; and neoplasms of the small intestine.	SNOMEDCT:22542007|DOID:10611|UMLS:C0033680|http://identifiers.org/omim/226300|ORPHA:566175|MESH:D011504
MONDO:0010156	Troyer syndrome	biolink:Disease	mondo	GARD:0005372|OMIM:275900|MESH:C536858|SCTID:230264003|DOID:0050886|ICD10:G11.4|UMLS:C0393559|Orphanet:101000|ICD9:335.29	gard_rare|ordo_disease	childhood-onset spastic paraparesis-distal muscle wasting syndrome|autosomal recessive spastic paraplegia 20|childhood-onset spastic paraparesis with distal muscle wasting|spastic paraparesis, childhood-onset, with distal muscle wasting|SPG20|spastic paraplegia 20, autosomal recessive|hereditary spastic paraplegia 20|spastic paraplegia 20, autosomal recessive; SPG20|spastic paraplegia 20|spastic paraplegia, autosomal recessive, Troyer type|Cross-McKusick syndrome|spastic paraplegia 20 (Troyer syndrome)|Troyer syndrome|autosomal recessive spastic paraplegia Troyer type|spastic paraplegia type 20|autosomal recessive spastic paraplegia type 20	http://purl.obolibrary.org/obo/MONDO_0010156	Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.	SNOMEDCT:230264003|http://identifiers.org/omim/275900|MESH:C536858|DOID:0050886|ORPHA:101000|UMLS:C0393559
HGNC:11773	TGFBR2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11773		
MONDO:0010155	Dorfman-Chanarin disease	biolink:Disease	mondo	OMIM:275630|ICD10:E75.5|GARD:0003979|Orphanet:98907|SCTID:19604005	ordo_disease	ichthyotic neutral Lipid storage disease|Chanarin-Dorfman disease|Chanarin-Dorfman syndrome; CDS|ichthyosiform erythroderma with leukocyte vacuolation|triglyceride storage disease with impaired long-chain fatty acid oxidation|NLSDI|neutral lipid storage disease with ichthyotic|neutral lipid storage disease with ichthyosis|CDS|Chanarin-Dorfman syndrome|neutral Lipid storage disease with ichthyosis|Dorfman-Chanarin syndrome|Chanarin-Dorfman syndrome|Dorfman Chanarin syndrome|DCs|disorder of cornification 12 (neutral lipid storage type)	http://purl.obolibrary.org/obo/MONDO_0010155		SNOMEDCT:19604005|http://identifiers.org/omim/275630|ORPHA:98907
MONDO:0009173	congenital enteropathy due to enteropeptidase deficiency	biolink:Disease	mondo	OMIM:226200|SCTID:190952002|UMLS:C0268416|ICD9:277.89|ICD10:K90.8|Orphanet:168601|DOID:0111667|MESH:C562649	ordo_disease	congenital enterokinase deficiency|enteropeptidase deficiency|enterokinase deficiency	http://purl.obolibrary.org/obo/MONDO_0009173	Congenital enteropathy due to enteropeptidase deficiency is a rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated.	UMLS:C0268416|http://identifiers.org/omim/226200|DOID:0111667|SNOMEDCT:190952002|MESH:C562649|ORPHA:168601
HGNC:11772	TGFBR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11772		
MONDO:0009172	enterocolitis (disease)	biolink:Disease	mondo	HP:0004387|SCTID:43752006|ICD9:558.9|NCIT:C79573|MESH:D004760|EFO:1001481|UMLS:C0014356|OMIM:226150		enterocolitis	http://purl.obolibrary.org/obo/MONDO_0009172	An inflammatory process affecting the small intestine and colon. Causes include viruses, bacteria, radiation, and antibiotics use.	NCIT:C79573|UMLS:C0014356|http://identifiers.org/omim/226150|SNOMEDCT:43752006|MESH:D004760
MONDO:0010158	T-substance anomaly	biolink:Disease	mondo	OMIM:276200		T-substance anomaly	http://purl.obolibrary.org/obo/MONDO_0010158		http://identifiers.org/omim/276200
HGNC:11779	TGM3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11779		
MONDO:0009171	endothelial dystrophy, congenital hereditary, with nail hypoplasia	biolink:Disease	mondo	UMLS:C1856970|OMIM:226110|MESH:C565591		endothelial dystrophy, congenital hereditary, with nail hypoplasia	http://purl.obolibrary.org/obo/MONDO_0009171		http://identifiers.org/omim/226110|MESH:C565591|UMLS:C1856970
MONDO:0010157	Tryptophanuria with dwarfism	biolink:Disease	mondo	OMIM:276100|UMLS:C0268473|GARD:0004268|ICD9:259.4|MESH:C562658|SCTID:12045002	gard_rare	Tryptophanuria with dwarfism	http://purl.obolibrary.org/obo/MONDO_0010157		SNOMEDCT:12045002|MESH:C562658|http://identifiers.org/omim/276100|UMLS:C0268473
HGNC:11777	TGM1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11777		
MONDO:0009170	endocardial fibroelastosis and coarctation of abdominal aorta	biolink:Disease	mondo	UMLS:C1856971|OMIM:226100|MESH:C565592		endocardial fibroelastosis and coarctation of abdominal aorta	http://purl.obolibrary.org/obo/MONDO_0009170		http://identifiers.org/omim/226100|MESH:C565592|UMLS:C1856971
MONDO:0010159	mismatch repair cancer syndrome 1	biolink:Disease	mondo	SCTID:61665008|GARD:0000420|OMIM:276300|UMLS:C4321324|NCIT:C130202|UMLS:C0265325|MESH:C536928|Orphanet:252202	ordo_disease	BTP1 syndrome|glioma-polyposis syndrome|CMMR-D syndrome|malignant tumors of the central nervous system associated with familial polyposis of the colon|constitutional MIS-match repair deficiency syndrome|MMRCS1|brain tumor-polyposis syndrome|brain tumor-polyposis syndrome 1|Turcot syndrome|constitutional mismatch repair deficiency syndrome|MMRCS|mismatch repair deficiency|mismatch repair cancer syndrome|childhood cancer syndrome|MMR deficiency|CNS tumors with familial polyposis of the colon|CMMR-D	http://purl.obolibrary.org/obo/MONDO_0010159	A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1.	http://identifiers.org/omim/276300|UMLS:C4321324|UMLS:C0265325|MESH:C536928|NCIT:C130202|ORPHA:252202|SNOMEDCT:61665008
HGNC:11776	TGIF1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11776		
MONDO:0010150	head and neck squamous cell carcinoma	biolink:Disease	mondo	ONCOTREE:HNSC|UMLS:C1168401|Orphanet:67037|MESH:C535575|DOID:5520|NCIT:C34447|EFO:0000181|MedDRA:10060121|OMIM:275355|SCTID:716659002	ordo_disease	craniocervical region squamous cell carcinoma|HNSCC|SCCHN|squamous cell carcinoma of head and neck|squamous cell carcinoma, head and neck; HNSCC|carcinoma of the head and neck|squamous cell carcinoma of the head and neck|squamous cell carcinoma, head and neck|head and neck squamous cell carcinoma|head and neck squamous cell carcinoma, NOS|squamous cell carcinomas of head and neck	http://purl.obolibrary.org/obo/MONDO_0010150	A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands.	DOID:5520|NCIT:C34447|ORPHA:67037|SNOMEDCT:716659002|MESH:C535575|UMLS:C1168401|MEDDRA:10060121|http://identifiers.org/omim/275355
HGNC:11771	TGFBI	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11771		
MONDO:0010152	trichomegaly-retina pigmentary degeneration-dwarfism syndrome	biolink:Disease	mondo	DOID:0111271|Orphanet:3363|MESH:C536554|OMIM:275400|SCTID:719944006|UMLS:C1848745|GARD:0005266	ordo_malformation_syndrome	eyelashes, long, with intellectual disability|trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina|trichomegaly with mental retardation, dwarfism, and pigmentary Degeneration of retina|long eyelashes-intellectual disability syndrome|Oliver-McFarlane syndrome; OMCS|Oliver-McFarlane syndrome|eyelashes, long, with mental retardation|trichomegaly with intellectual disability, dwarfism, and pigmentary Degeneration of retina|Oliver McFarlane syndrome|OMCS|eyelashes, long with intellectual disability	http://purl.obolibrary.org/obo/MONDO_0010152	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.	SNOMEDCT:719944006|DOID:0111271|MESH:C536554|UMLS:C1848745|ORPHA:3363|http://identifiers.org/omim/275400
MONDO:0010151	tricarboxylic acid cycle, defect of	biolink:Disease	mondo	MESH:C564762|OMIM:275370|UMLS:C1848746		tricarboxylic acid cycle, defect of	http://purl.obolibrary.org/obo/MONDO_0010151		MESH:C564762|UMLS:C1848746|http://identifiers.org/omim/275370
HP:0011314	Abnormality of long bone morphology	biolink:PhenotypicFeature	mondo	UMLS:C4021165		Abnormal shape of long bone|Abnormality of the tubular bones	http://purl.obolibrary.org/obo/HP_0011314	An abnormality of size or shape of the long bones.	
MONDO:0010139	isolated thyroid-stimulating hormone deficiency	biolink:Disease	mondo	UMLS:C4082174|Orphanet:90674|OMIM:275100|GARD:0010129|UMLS:C0271789|DOID:0070123|ICD10:E03.1	ordo_disease	thyrotropin, biologically inactive|hypothyroidism, congenital, nongoitrous, type 4|thyroid-stimulating hormone deficiency|thyroid-stimulating hormone, deficiency of|hypothyroidism, congenital, nongoitrous, 4|TSH deficiency|pituitary cretinism|thyrotropin deficiency, isolated|congenital nongoitrous hypothyroidism 4|congenital nongoitrous hypothryoidism 4|isolated thyrotropin deficiency|isolated TSH deficiency|CHNG4|hypothyroidism, congenital, nongoitrous, 4; CHNG4	http://purl.obolibrary.org/obo/MONDO_0010139	Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.	UMLS:C4082174|DOID:0070123|http://identifiers.org/omim/275100|UMLS:C0271789|ORPHA:90674
MONDO:0009149	ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome	biolink:Disease	mondo	OMIM:225040|UMLS:C1857053|MESH:C565605|Orphanet:1812|ICD10:Q87.8	ordo_malformation_syndrome	ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum	http://purl.obolibrary.org/obo/MONDO_0009149	Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998.	ORPHA:1812|MESH:C565605|http://identifiers.org/omim/225040|UMLS:C1857053
MONDO:0009148	Rosselli-Gulienetti syndrome	biolink:Disease	mondo	UMLS:C0796139|OMIM:225000|Orphanet:90339|MESH:C563117	speculative	Rosselli-Gulienetti syndrome	http://purl.obolibrary.org/obo/MONDO_0009148	A rare congenital ectodermal dysplasia syndrome with a range of signs and symptoms including cleft lip or palate, mental retardation and various forms of ectodermal dysplasia. Additional symptoms may include fused eyelids, absent nails, delayed bone growth and dry skin. It is believed that this syndrome follows an autosomal dominant pattern of inheritance with incomplete penetrance, and caused by a mutation affecting the TP63 gene	http://identifiers.org/omim/225000|MESH:C563117|UMLS:C0796139|ORPHA:90339
MONDO:0009147	ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	biolink:Disease	mondo	UMLS:C3887494|DOID:0111665|OMIM:224900		ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive; ECTD10B|ectodermal dysplasia, hypohidrotic|ectodermal dysplasia, anhidrotic|ECTD10B|ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009147		DOID:0111665|http://identifiers.org/omim/224900|UMLS:C3887494
MONDO:0009146	ectodermal dysplasia-sensorineural deafness syndrome	biolink:Disease	mondo	GARD:0009723|OMIM:224800|MESH:C565606|Orphanet:1883|MESH:C535757|UMLS:C1857068	ordo_malformation_syndrome|gard_rare	hidrotic ectodermal dysplasia, sensorineural hearing loss and contracture of the fifth fingers|ectodermal dysplasia and neurosensory deafness|congenital ectodermal dysplasia with hearing loss|Mikaelian syndrome|ectodermal dysplasia-sensorineural hearing loss syndrome	http://purl.obolibrary.org/obo/MONDO_0009146	Ectodermal dysplasia-sensorineural deafness syndrome is characterised by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive.	MESH:C565606|MESH:C535757|http://identifiers.org/omim/224800|UMLS:C1857068|ORPHA:1883
MONDO:0009145	SchC6pf-Schulz-Passarge syndrome	biolink:Disease	mondo	ICD9:758.89|SCTID:700062000|MESH:C565607|UMLS:C1857069|OMIM:224750|ICD10:Q82.8|DOID:0111647|Orphanet:50944	ordo_disease	keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome|palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome|SChöPF-Schulz-Passarge syndrome|eccrine tumors-ectodermal dysplasia|eccrine tumors with ectodermal dysplasia|SSPS|keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis|SCHOPF-Schulz-Passarge syndrome|SCHOPF-Schulz-Passarge syndrome; SSPS|palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome	http://purl.obolibrary.org/obo/MONDO_0009145	SchC6pf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.	SNOMEDCT:700062000|http://identifiers.org/omim/224750|UMLS:C1857069|ORPHA:50944|DOID:0111647|MESH:C565607
MONDO:0009144	Ebstein anomaly (disease)	biolink:Disease	mondo	ICD10:Q22.5|EFO:0007244|ICD9:746.2|GARD:0006313|DOID:14289|OMIM:224700|COHD:4069182|Orphanet:1880|NCIT:C84681|MESH:D004437|MedDRA:10014075|UMLS:C0013481	ordo_morphological_anomaly	Ebstein's malformation|Ebstein's anomaly of tricuspid valve|Ebstein's anomaly (disorder) [ambiguous]|Ebstein malformation|Ebstein's anomaly of right atrioventricular valve|Ebstein anomaly|Ebstein's anomaly|Ebstein's anomaly of common atrioventricular valve|Ebstein anomaly of the tricuspid valve	http://purl.obolibrary.org/obo/MONDO_0009144	Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction.	MEDDRA:10014075|http://identifiers.org/omim/224700|MESH:D004437|NCIT:C84681|UMLS:C0013481|DOID:14289|ORPHA:1880
MONDO:0010143	lethal restrictive dermopathy	biolink:Disease	mondo	SCTID:400128006|GARD:0001516|DOID:0060762|MESH:C536920|OMIM:275210|ICD10:Q82.8|Orphanet:1662|UMLS:C0406585	ordo_disease	restrictive dermopathy, lethal|hyperkeratosis-contracture syndrome|restrictive dermopathy|fetal hypokinesia sequence due to restrictive dermopathy|tight skin contracture syndrome, lethal|lethal restrictive dermopathy|tight skin contracture syndrome	http://purl.obolibrary.org/obo/MONDO_0010143	Restrictive dermopathy (RD) is a neonatal lethal genetic disease characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities.	http://identifiers.org/omim/275210|UMLS:C0406585|SNOMEDCT:400128006|ORPHA:1662|MESH:C536920|DOID:0060762
MONDO:0009143	Meier-Gorlin syndrome 1	biolink:Disease	mondo	OMIM:224690|ICD9:759.89|SCTID:703508009|DOID:0080512|UMLS:CN030358		Meier-GORLIN syndrome 1; MGORS1|ORC1 Meier-Gorlin syndrome|Meier-Gorlin syndrome 1|Meier-Gorlin syndrome|microtia, absent patellae, micrognathia syndrome|Ear, patella, short stature syndrome|Meier-Gorlin syndrome type 1|Meier-Gorlin syndrome caused by mutation in ORC1|MGORS1	http://purl.obolibrary.org/obo/MONDO_0009143	Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC1 gene.	http://identifiers.org/omim/224690|SNOMEDCT:703508009|DOID:0080512|UMLS:CN030358
HGNC:11742	TFAP2A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11742		
CHEBI:16716	benzene	biolink:ChemicalSubstance	mondo			[6]annulene|Phene|Pyrobenzole|Pyrobenzol|BENZENE|benzene|Benzene|Benzine|phenyl hydride|Benzol|Mineral naphtha|Bicarburet of hydrogen|Coal naphtha|benzole|Benzen|cyclohexatriene	http://purl.obolibrary.org/obo/CHEBI_16716	A six-carbon aromatic annulene in which each carbon atom donates one of its two 2p electrons into a delocalised pi system. A toxic, flammable liquid byproduct of coal distillation, it is used as an industrial solvent. Benzene is a carcinogen that also damages bone marrow and the central nervous system.	
MONDO:0010142	hypothyroidism due to TSH receptor mutations	biolink:Disease	mondo	DOID:0070126|ICD10:E03.1|UMLS:CN206435|UMLS:C3493776|OMIM:275200|Orphanet:90673	ordo_disease	hypothyroidism, congenital, nongoitrous, type 1|CHNG1|hypothyroidism, congenital, nongoitrous, 1|hypothyroidism due to unresponsiveness to thyrotropin|hypothyroidism, congenital, nongoitrous, 1; CHNG1|congenital nongoitrous hypothyroidism 1|congenital nongoitrous hypothryoidism 1|TSH resistance|thyroid-stimulating hormone, resistance to|hypothyroidism, congenital, due to TSH resistance|hypothyroidism, Nonautoimmune|thyrotropin resistance	http://purl.obolibrary.org/obo/MONDO_0010142	Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.	http://identifiers.org/omim/275200|ORPHA:90673|UMLS:C3493776|UMLS:CN206435|DOID:0070126
MONDO:0009142	dystonia with Ringbinden	biolink:Disease	mondo	MESH:C565608|UMLS:C1857089|OMIM:224550		dystonia with Ringbinden	http://purl.obolibrary.org/obo/MONDO_0009142		http://identifiers.org/omim/224550|UMLS:C1857089|MESH:C565608
HGNC:11741	TFAM	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11741		
MONDO:0009141	torsion dystonia 2	biolink:Disease	mondo	GARD:0002028|NCIT:C123415|UMLS:C1857093|ICD10:G24.1|DOID:0090038|Orphanet:99657|OMIM:224500|MESH:C538006	ordo_disease	torsion dystonia 2, autosomal recessive type|torsion dystonia type 2|autosomal recessive torsion dystonia 2|dystonia musculorum deformans type 2|dystonia musculorum deformans 2|HPCA dystonic disorder|dystonia 2, torsion, autosomal recessive|primary dystonia, DYT2 type|dystonia 2, torsion, autosomal recessive; DYT2|DYT2|dystonic disorder caused by mutation in HPCA	http://purl.obolibrary.org/obo/MONDO_0009141	Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet.	http://identifiers.org/omim/224500|NCIT:C123415|MESH:C538006|UMLS:C1857093|ORPHA:99657|DOID:0090038
MONDO:0010145	tibia, absence of, with congenital deafness	biolink:Disease	mondo	UMLS:C1848758|MESH:C564764|OMIM:275230		tibia, absence of, with congenital deafness	http://purl.obolibrary.org/obo/MONDO_0010145		http://identifiers.org/omim/275230|MESH:C564764|UMLS:C1848758
HGNC:11740	TF	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11740		
MONDO:0009140	Silverman-Handmaker type dyssegmental dysplasia	biolink:Disease	mondo	ICD9:759.89|ICD10:Q77.7|OMIM:224410|SCTID:93132001|MESH:C537998|DOID:0090032|GARD:0002026|Orphanet:1865	gard_rare|ordo_disease	dyssegmental dysplasia Silverman-Handmaker type|Anisospondylic Camptomicromelic dwarfism, Silverman-Handmaker type|Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type|dyssegmental dwarfism, Silverman-Handmaker type|DDSH|dyssegmental dysplasia, Silverman-Handmaker type; DDSH|dyssegmental dwarfism Silverman-Handmaker type|dyssegmental dysplasia, Silverman-Handmaker type	http://purl.obolibrary.org/obo/MONDO_0009140	Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.	http://identifiers.org/omim/224410|SNOMEDCT:93132001|ORPHA:1865|MESH:C537998|DOID:0090032
MONDO:0010144	tibial hemimelia	biolink:Disease	mondo	OMIM:275220|ICD10:Q72.5|GARD:0008707|MESH:C535563|Orphanet:93322|SCTID:79177001	ordo_morphological_anomaly	bilateral absence of the tibia|tibial hemimelia|absence of tibia|congenital aplasia and dysplasia of the tibia with intact fibula|tibial longitudinal meromelia|congenital longitudinal deficiency of the tibia|Thm|tibia, absence of|congenital absence of tibia	http://purl.obolibrary.org/obo/MONDO_0010144	Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula.	http://identifiers.org/omim/275220|MESH:C535563|SNOMEDCT:79177001|ORPHA:93322
MONDO:0010147	tongue, pigmented fungiform papillae of	biolink:Disease	mondo	UMLS:C1848756|OMIM:275250		tongue, pigmented fungiform papillae of	http://purl.obolibrary.org/obo/MONDO_0010147		UMLS:C1848756|http://identifiers.org/omim/275250
MONDO:0010146	Kerion celsi	biolink:Disease	mondo	ICD10:B35.0|GARD:0003109|OMIM:275240|SCTID:19087001|Orphanet:499|UMLS:C0276742	gard_rare|ordo_disease	Tinea capitis profunda|trichophytia profunda barbae|trichophytia profunda capitis|TINEA imbricata, susceptibility to|susceptibility to Tinea imbricata|Trichophyton infection	http://purl.obolibrary.org/obo/MONDO_0010146	A rare inflammatory and suppurating type of tinea capitis, a skin infection caused by Trichophyton or Microsporum fungi, that predominantly affects the scalp and that is characterized by the development of painful crusty lesions covered with follicular pustules and surrounded by erythematous alopecic areas, that can later evolve into abscesses and leave permanent cicatricial alopecia. Lesions can be associated with regional lymphadenopathy.	http://identifiers.org/omim/275240|MESH:C536165|ORPHA:499|UMLS:C0276742|SNOMEDCT:19087001
MONDO:0010149	transcobalamin II deficiency	biolink:Disease	mondo	ICD10:D51.2|UMLS:C0342701|GARD:0012338|NCIT:C142806|OMIM:275350|Orphanet:859|SCTID:237934001|DOID:0050818	ordo_disease	TCN2 deficiency|transcobalamin 2 deficiency|transcobalamin deficiency|TC 2 deficiency|Tcn2 deficiency|transcobalamin II deficiency|inherited deficiency of transcobalamin	http://purl.obolibrary.org/obo/MONDO_0010149	Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.	NCIT:C142806|http://identifiers.org/omim/275350|SNOMEDCT:237934001|DOID:0050818|ORPHA:859|UMLS:C0342701
MONDO:0010148	Mounier-Kuhn syndrome	biolink:Disease	mondo	GARD:0003793|UMLS:C2713583|Orphanet:3347|NCIT:C85196|SCTID:57451009|ICD9:748.3|UMLS:C0040587|ICD10:J98.0|OMIM:275300|MedDRA:10044316|MESH:D014137|GARD:0005234	ordo_clinical_syndrome	tracheobronchomegaly|idiopathic tracheobronchomegaly|congenital tracheobronchomegaly|Mounier-Kühn syndrome|Mounier Kuhn syndrome|Mounier-Kuhn syndrome	http://purl.obolibrary.org/obo/MONDO_0010148	Mounier-Kuhn syndrome, also known as idiopathic tracheobronchomegaly, is a congenital disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections.	ORPHA:3347|MESH:D014137|http://identifiers.org/omim/275300|UMLS:C2713583|SNOMEDCT:57451009|UMLS:C0040587|NCIT:C85196|MEDDRA:10044316
HGNC:11743	TFAP2B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11743		
MONDO:0010141	tiglic acidemia	biolink:Disease	mondo	ICD9:270.8|UMLS:C1848793|MESH:C536921|GARD:0009958|SCTID:444755001|OMIM:275190	gard_rare	disorder of isoleucine metabolism|tiglic acidemia	http://purl.obolibrary.org/obo/MONDO_0010141		http://identifiers.org/omim/275190|SNOMEDCT:444755001|MESH:C536921|UMLS:C1848793
NCBITaxon:38323	Bartonella henselae	organism taxon	mondo	PMID:8240958|GC_ID:11|PMID:1371515		Rochalimaea henselae	http://purl.obolibrary.org/obo/NCBITaxon_38323		
HGNC:23719	PGAP3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23719		
MONDO:0010140	isolated thyrotropin-releasing hormone deficiency	biolink:Disease	mondo	Orphanet:238670|SCTID:10736002|ICD10:E03.1|NCIT:C121741|OMIM:275120|ICD9:253.4	ordo_disease	isolated thyroliberin deficiency|isolated TRF deficiency|thyrotropin-releasing hormone deficiency|isolated protirelin deficiency|isolated TRH deficiency|isolated TSH-releasing factor deficiency|tertiary hypothyroidism|isolated thyrotropin-releasing factor deficiency|hypothalamic hypothyroidism|TRH deficiency|isolated prothyroliberin deficiency	http://purl.obolibrary.org/obo/MONDO_0010140	Hypothyroidism due to dysfunction of the hypothalamus, assumed to result in reduced secretion of thyrotropin- releasing hormone.	NCIT:C121741|ORPHA:238670|SNOMEDCT:10736002|http://identifiers.org/omim/275120
MONDO:0022113	central centrifugal cicatricial alopecia	biolink:Disease	mondo	GARD:0010826|UMLS:C1274708|OMIM:618352|ICD9:704.09|SCTID:109441000119102	gard_rare	hot comb alopecia|central centrifugal alopecia|CENTRAL CENTRIFUGAL CICATRICIAL ALOPECIA; CCCA|central centrifugal cicatricial alopecia	http://purl.obolibrary.org/obo/MONDO_0022113		SNOMEDCT:109441000119102|UMLS:C1274708|http://identifiers.org/omim/618352
HGNC:23734	PTF1A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23734		
MONDO:0010129	thymic-renal-anal-lung dysplasia	biolink:Disease	mondo	GARD:0005202|ICD10:Q87.8|SCTID:723555007|OMIM:274265|Orphanet:3326|UMLS:C1848812|MESH:C536907	ordo_malformation_syndrome|gard_rare	syndrome of unilobed or absent thymus, renal and ureter agenesis/dysgenesis, and intrauterine growth retardation (IUGR)|thymic-renal-anal-lung dysplasia	http://purl.obolibrary.org/obo/MONDO_0010129	This syndrome is characterised by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus.	SNOMEDCT:723555007|UMLS:C1848812|ORPHA:3326|http://identifiers.org/omim/274265|MESH:C536907
MONDO:0010128	thyrocerebrorenal syndrome	biolink:Disease	mondo	GARD:0005203|Orphanet:3327|MESH:C536908|OMIM:274240|UMLS:C4518579|SCTID:733096007|UMLS:C1848813	ordo_malformation_syndrome	Thyrocerebral-retinal syndrome|cutler-Bass-Romshe syndrome|THYROCEREBRORETINAL syndrome	http://purl.obolibrary.org/obo/MONDO_0010128	Thyrocerebrorenal syndrome is characterized by renal, neurologic, thyroid disease, associated with thrombocytopenia. It has been described in a brother and his sister. Intelligence was normal. It is transmitted as an autosomal recessive trait.	UMLS:C1848813|UMLS:C4518579|ORPHA:3327|SNOMEDCT:733096007|http://identifiers.org/omim/274240|MESH:C536908
MONDO:0009159	Ehlers-Danlos syndrome, cardiac valvular type	biolink:Disease	mondo	MESH:C536200|SCTID:720858001|ICD10:Q79.6|OMIM:225320|GARD:0012613|Orphanet:230851	ordo_disease	Ehlers-Danlos syndrome, autosomal recessive, CARDIAC valvular form|EDS, cardiac valvular type|Cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome|Cardiac valvular form of Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, CARDIAC valvular type; EDSCV|Cardiac-valvular Ehlers-Danlos syndrome|Cardiac-valvular EDS|cvEDS|Ehlers-Danlos syndrome, arthrochalasis type|Ehlers-Danlos syndrome, autosomal recessive, Cardiac valvular form|EDSCV	http://purl.obolibrary.org/obo/MONDO_0009159	Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency.	http://identifiers.org/omim/225320|UMLS:C1857034|SNOMEDCT:720858001|MESH:C536200|ORPHA:230851
HP:0001999	Abnormal facial shape	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:398302004|UMLS:C0424503|UMLS:C4072833|SNOMEDCT_US:32003007|UMLS:C1385263|UMLS:C4072832|SNOMEDCT_US:398206004|SNOMEDCT_US:248200007|UMLS:C0266617	hposlim_core	Facial dysmorphism|Abnormal facial shape|Malformation of face|Deformity of face|Unusual facial appearance|Distortion of face|Unusual facies|Dysmorphic facial features|Dysmorphic facies|Distinctive facies|Abnormal morphology of the face|Funny looking face	http://purl.obolibrary.org/obo/HP_0001999	An abnormal morphology (form) of the face or its components.	
MONDO:0009158	Ehlers-Danlos syndrome, fibronectinemic type	biolink:Disease	mondo	SCTID:83586000|ICD10:Q79.6|GARD:0008508|Orphanet:75501|OMIM:225310|MESH:C565600	ordo_disease	EDS X|Ehlers-Danlos syndrome, type 10|FN Abnormality|EDS10 (formerly)|Ehlers-Danlos syndrome type 10|Ehlers-Danlos syndrome, fibronectin-deficient|EDS 10|Ehlers-Danlos syndrome type 10 (formerly)|Ehlers-Danlos syndrome, type X (formerly)|Ehlers-Danlos syndrome, dysfibronectinemic type|Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality	http://purl.obolibrary.org/obo/MONDO_0009158	Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive.	http://identifiers.org/omim/225310|ORPHA:75501|SNOMEDCT:83586000|MESH:C565600
MONDO:0009157	split hand-foot malformation 6	biolink:Disease	mondo	ICD10:Q71.6|OMIM:225300|MESH:C567616|DOID:0090026|UMLS:C2749665		split hand-foot malformation caused by mutation in WNT10B|WNT10B split hand-foot malformation|split-hand/foot malformation 6; SHFM6|split hand-foot malformation type 6|SHFM6|split-hand/foot malformation 6|split-hand/foot malformation type 6|ectrodactyly, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009157	Any split hand-foot malformation in which the cause of the disease is a mutation in the WNT10B gene.	http://identifiers.org/omim/225300|MESH:C567616|UMLS:C2749665|DOID:0090026
CHEBI:16709	pyridoxine	biolink:ChemicalSubstance	mondo			Pyridoxol|Pyridoxine|3-hydroxy-4,5-bis(hydroxymethyl)-2-methylpyridine|pyridoxine|4,5-bis(hydroxymethyl)-2-methylpyridin-3-ol|vitamin B6|2-methyl-3-hydroxy-4,5-dihydroxymethylpyridine|3-hydroxy-4,5-dimethylol-alpha-picoline|5-hydroxy-6-methyl-3,4-pyridinedimethanol	http://purl.obolibrary.org/obo/CHEBI_16709	A hydroxymethylpyridine with hydroxymethyl groups at positions 4 and 5, a hydroxy group at position 3 and a methyl group at position 2. The 4-methanol form of vitamin B6, it is converted intoto pyridoxal phosphate which is a coenzyme for synthesis of amino acids, neurotransmitters, sphingolipids and aminolevulinic acid.	
MONDO:0009156	ectrodactyly-polydactyly syndrome	biolink:Disease	mondo	OMIM:225290|MESH:C565601|Orphanet:1892|ICD10:Q74.8|UMLS:C1857040	ordo_malformation_syndrome	ectrodactyly-polydactyly	http://purl.obolibrary.org/obo/MONDO_0009156	Ectrodactyly-polydactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982.	UMLS:C1857040|ORPHA:1892|MESH:C565601|http://identifiers.org/omim/225290
MONDO:0009155	EEM syndrome	biolink:Disease	mondo	GARD:0002078|ICD10:Q87.8|Orphanet:1897|MESH:C536190|DOID:0111649|SCTID:720856002|OMIM:225280	ordo_malformation_syndrome|gard_rare	EEM syndrome|ectodermal dysplasia, ectrodactyly, and macular dystrophy|ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome|EEMS|ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome; EEMS|ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome	http://purl.obolibrary.org/obo/MONDO_0009155	EEM syndrome is characterised by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1).	UMLS:C1857041|MESH:C536190|ORPHA:1897|DOID:0111649|SNOMEDCT:720856002|http://identifiers.org/omim/225280
MONDO:0009154	hypothyroidism, congenital, nongoitrous, 5	biolink:Disease	mondo	ICD10:E03.1|OMIM:225250|DOID:0070125|UMLS:C2673630|MESH:C567123		CHNG5|hypothyroidism, congenital, nongoitrous, 5; CHNG5|hypothyroidism, congenital, nongoitrous, 5|NKX2-5 hypothyroidism, congenital, nongoitrous|congenital nongoitrous hypothyroidism 5|hypothyroidism, congenital, nongoitrous, type 5|congenital nongoitrous hypothryoidism 5|hypothyroidism, congenital, nongoitrous caused by mutation in NKX2-5	http://purl.obolibrary.org/obo/MONDO_0009154	Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the NKX2-5 gene.	DOID:0070125|MESH:C567123|http://identifiers.org/omim/225250|UMLS:C2673630
MONDO:0010132	familial thyroid dyshormonogenesis	biolink:Disease	mondo	NCIT:C121751|ICD10:E03.1|SCTID:718183003|ICD10:E03.0|MESH:C564766|UMLS:C1848805|Orphanet:95716	ordo_disease	dyshormonogenesis|thyroid dyshormonogenesis	http://purl.obolibrary.org/obo/MONDO_0010132	Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.	UMLS:C1848805|NCIT:C121751|SNOMEDCT:718183003|MESH:C564766|ORPHA:95716
MONDO:0012795	hypophosphatemic rickets and hyperparathyroidism	biolink:Disease	mondo	MESH:C567423|UMLS:C2677524|OMIM:612089		hypophosphatemic rickets and hyperparathyroidism	http://purl.obolibrary.org/obo/MONDO_0012795		UMLS:C2677524|http://identifiers.org/omim/612089|MESH:C567423
MONDO:0010131	thyroid hormone resistance, generalized, autosomal recessive	biolink:Disease	mondo	NCIT:C85191|OMIM:274300|GARD:0000301|HGNC:11799	gard_rare	thyroid hormone Resistance|thyroid hormone resistance, generalized, autosomal recessive; GRTH|Refetoff syndrome|thyroid hormone unresponsiveness|thyroid hormone Resistance syndrome|thyroid hormone resistance, generalized, autosomal recessive|THRB|thyroid hormone receptor BETA|GRTH|Gthr|thyroid hormone Resistance syndrome	http://purl.obolibrary.org/obo/MONDO_0010131	A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum.	http://identifiers.org/omim/274300|NCIT:C85191
MONDO:0012796	retinitis pigmentosa 41	biolink:Disease	mondo	UMLS:C2677516|OMIM:612095|GARD:0010379|MESH:C567422|ICD10:H35.5|DOID:0110376	gard_rare	retinitis pigmentosa 41; RP41|retinitis pigmentosa 41|RP 41|RP41|retinitis pigmentosa type 41|PROM1 retinitis pigmentosa|retinal Degeneration, autosomal recessive, prominin-related|retinitis pigmentosa caused by mutation in PROM1	http://purl.obolibrary.org/obo/MONDO_0012796	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PROM1 gene.	http://identifiers.org/omim/612095|UMLS:C2677516|MESH:C567422|DOID:0110376
CHEBI:16705	6-aminopenicillanic acid	biolink:ChemicalSubstance	mondo			Penicin|6-Aminopenicillanate|6-Aminopenicillamine acid|6-amino-2,2-dimethylpenam-3alpha-carboxylic acid|Aminopenicillanic acid|(+)-6-aminopenicillanic acid|6-Aminopenicillanic acid|Penin|(2S,5R,6R)-6-amino-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid|6-Aps|6-APA|6-Apa|Phenacyl 6-aminopenicillinate|6beta-aminopenicillanic acid	http://purl.obolibrary.org/obo/CHEBI_16705	A penicillanic acid compound having a (6R)-amino substituent. The active nucleus common to all penicillins, it may be substituted at the 6-amino position to form the semisynthetic penicillins, resulting in a variety of antibacterial and pharmacologic characteristics.	
MONDO:0009153	ectopia lentis et pupillae	biolink:Disease	mondo	SCTID:419237004|MESH:C563268|UMLS:C1644196|DOID:0111648|OMIM:225200		ectopia lentis et pupillae|ectopia lentis with ectopia of pupil	http://purl.obolibrary.org/obo/MONDO_0009153		SNOMEDCT:419237004|UMLS:C1644196|DOID:0111648|http://identifiers.org/omim/225200|MESH:C563268
HGNC:11752	TFE3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11752		
MONDO:0010134	Pendred syndrome	biolink:Disease	mondo	OMIM:274600|DOID:0060744|Orphanet:705|GARD:0004271|ICD10:E07.1|MESH:C536648|SCTID:70348004|NCIT:C121745|UMLS:C0271829	ordo_malformation_syndrome|clingen	Pendred syndrome|hypothyroidism, congenital, due to dyshormonogenesis, 2B|thyroid hormonogenesis, genetic defect in, 2B|autosomal recessive sensorineural hearing impairment and goiter|thyroid dyshormonogenesis 2B|PDS|goiter-deafness syndrome|Pendred syndrome; PDS|deafness with goiter|congenital hypothyroidism due to dyshormonogenesis 2B|TDH2B|genetic defect in thyroid hormonogenesis 2B	http://purl.obolibrary.org/obo/MONDO_0010134	Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.	UMLS:C0271829|http://identifiers.org/omim/274600|NCIT:C121745|MESH:C536648|ORPHA:705|SNOMEDCT:70348004|DOID:0060744
MONDO:0009152	ectopia lentis 2, isolated, autosomal recessive	biolink:Disease	mondo	GARD:0002060|UMLS:C3541474|OMIM:225100|DOID:0111149		ectopia lentis, isolated autosomal recessive|autosomal recessive isolated ectopia lentis|ECTOL2|ectopia lentis 2, isolated, autosomal recessive; ECTOL2|autosomal recessive isolated ectopia lentis 2|ectopia lentis 2, isolated, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009152	An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21.	DOID:0111149|http://identifiers.org/omim/225100|UMLS:C3541474
MONDO:0012793	hypouricemia, renal, 2	biolink:Disease	mondo	UMLS:C2677549|MESH:C567426|OMIM:612076		gout susceptibility 2|hypouricemia, renal, 2; RHUC2|hypouricemia, renal, type 2|hypouricemia, renal, 2|RHUC2|uric acid concentration, serum, quantitative trait locus 2	http://purl.obolibrary.org/obo/MONDO_0012793		UMLS:C2677549|http://identifiers.org/omim/612076|MESH:C567426
MONDO:0009151	Zlotogora-Ogur syndrome	biolink:Disease	mondo	NCIT:C122656|SCTID:716248001|GARD:0000375|DOID:0080400|Orphanet:3253|DOID:0060773|GARD:0001045|OMIM:225060	gard_rare|ordo_malformation_syndrome	ectodermal dysplasia, margarita Island type|orofacial cleft 7|cleft lip/palate-ectodermal dysplasia syndrome; CLPED1|Zlotogora-Zilberman-Tenenbaum syndrome|margarita type of ectodermal dysplasia|ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly|ectodermal dysplasia, cleft lip and palate, intellectual disability, and syndactyly|CLPED1|cleft lip/palate-syndactyly-pili torti syndrome|ectodermal dysplasia, type 4|Zlotogora-Ogur syndrome|ectodermal dysplasia type 4|syndactyly-ectodermal dysplasia-cleft/lip palate|cleft lip/palate-syndactyly-pili torti|cleft lip with or without cleft palate, nonsyndromic, 7|Bustos Simosa pinto Cisternas syndrome|ectodermal dysplasia margarita island type|autosomal recessive ectodermal dysplasia|cleft lip-palate-ectodermal dysplasia syndrome|cleft lip/palate-ectodermal dysplasia syndrome|Zlotogora syndrome|ED4	http://purl.obolibrary.org/obo/MONDO_0009151	Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.	SNOMEDCT:716248001|DOID:0060773|ORPHA:3253|NCIT:C122656|DOID:0080400|MESH:C536726|http://identifiers.org/omim/225060
MONDO:0012794	ANE syndrome	biolink:Disease	mondo	OMIM:612079|MESH:C567425|Orphanet:157954|UMLS:C2677535	ordo_disease	alopecia, neurologic defects, and endocrinopathy syndrome; anes|alopecia-progressive neurological defect-endocrinopathy syndrome|alopecia, neurologic defects, and endocrinopathy syndrome|anes|ANE syndrome	http://purl.obolibrary.org/obo/MONDO_0012794	ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.	UMLS:C2677535|http://identifiers.org/omim/612079|MESH:C567425|ORPHA:157954
MONDO:0010133	thyroid dyshormonogenesis 2A	biolink:Disease	mondo	MESH:C563206|NCIT:C121750|SCTID:124204003|ICD9:277.6|UMLS:C1291299|OMIM:274500		thyroid dyshormonogenesis type 2A|thyroid hormonogenesis, genetic defect in, 2A|thyroid peroxidase deficiency|iodide peroxidase deficiency|familial thyroid dyshormonogenesis caused by mutation in TPO|TPO familial thyroid dyshormonogenesis|thyroid dyshormonogenesis 2A; TDH2A|TDH2A|thyroid dyshormonogenesis 2A|hypothyroidism, congenital, due to dyshormonogenesis, 2A	http://purl.obolibrary.org/obo/MONDO_0010133	Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase.	http://identifiers.org/omim/274500|NCIT:C121750|MESH:C563206|SNOMEDCT:124204003|UMLS:C1291299
MONDO:0012799	hypertrophic cardiomyopathy 11	biolink:Disease	mondo	MESH:C567419|UMLS:C2677506|DOID:0110317|OMIM:612098		hypertrophic cardiomyopathy caused by mutation in ACTC1|cardiomyopathy, familial hypertrophic, 11|cardiomyopathy, familial hypertrophic, 11; CMH11|CMH11|cardiomyopathy familial hypertrophic 11|ACTC1 hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, type 11|hypertrophic cardiomyopathy type 11	http://purl.obolibrary.org/obo/MONDO_0012799	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene.	http://identifiers.org/omim/612098|UMLS:C2677506|MESH:C567419|DOID:0110317
MONDO:0010136	thyroid dyshormonogenesis 4	biolink:Disease	mondo	UMLS:C0342195|SCTID:17885001|MESH:C562770|OMIM:274800		thyroid hormonogenesis, genetic defect in, 4|iodotyrosine dehalogenase deficiency|deiodinase deficiency|thyroid dyshormonogenesis 4|TDH4|hypothyroidism, congenital, due to dyshormonogenesis, 4|familial thyroid dyshormonogenesis caused by mutation in IYD|thyroid dyshormonogenesis type 4|IYD familial thyroid dyshormonogenesis|thyroid dyshormonogenesis 4; TDH4	http://purl.obolibrary.org/obo/MONDO_0010136	Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the IYD gene.	MESH:C562770|SNOMEDCT:17885001|http://identifiers.org/omim/274800|UMLS:C0342195
MONDO:0009150	hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome	biolink:Disease	mondo	MESH:C565604|ICD10:Q82.4|Orphanet:1882|GARD:0002049|OMIM:225050|SCTID:239050000	gard_rare|ordo_malformation_syndrome	ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia|HEDH syndrome|hypohidrotic ectodermal dysplasia with hypothyroidism|hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia|hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia|another syndrome|ectodermal dysplasia hypohidrotic with hypothyroidism and ciliary dyskinesia	http://purl.obolibrary.org/obo/MONDO_0009150	Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome is characterised by alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction (primary hypothyroidism), hypohidrosis, ephelides, enteropathy, and respiratory tract infections due to ciliary dyskinesia, leading to suggestion of the acronym ANother syndrome as alternative name for this condition. It has been described in three patients (two brothers and an unrelated girl). Transmission is autosomal recessive.	SNOMEDCT:239050000|ORPHA:1882|MESH:C565604|http://identifiers.org/omim/225050
MONDO:0010135	thyroid dyshormonogenesis 3	biolink:Disease	mondo	UMLS:C0342194|SCTID:23536000|OMIM:274700|MESH:C562769		familial thyroid dyshormonogenesis caused by mutation in TG|thyroid hormonogenesis, genetic defect in, 3|thyroid dyshormonogenesis 3|TDH3|hypothyroidism, congenital, due to dyshormonogenesis, 3|thyroid dyshormonogenesis type 3|TG familial thyroid dyshormonogenesis|thyroid dyshormonogenesis 3; TDH3	http://purl.obolibrary.org/obo/MONDO_0010135	Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the TG gene.	MESH:C562769|SNOMEDCT:23536000|http://identifiers.org/omim/274700|UMLS:C0342194
HP:0001997	Gout	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:190828008|SNOMEDCT_US:48440001|MSH:D015210|SNOMEDCT_US:90560007|SNOMEDCT_US:170733007|MSH:D006073|UMLS:C0018099|UMLS:C0003868		Gouty arthritis	http://purl.obolibrary.org/obo/HP_0001997	Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues.	
MONDO:0012797	OTSC8	biolink:Disease	mondo	UMLS:C2677515|MESH:C567421|OMIM:612096		OTSC8|otosclerosis 8|otosclerosis 8; OTSC8	http://purl.obolibrary.org/obo/MONDO_0012797		http://identifiers.org/omim/612096|UMLS:C2677515|MESH:C567421
MONDO:0010138	thyrotoxicosis	biolink:Disease	mondo	COHD:138387|SCTID:90739004|MESH:D013971|OMIM:275000|ICD9:242|ICD10:E05.9|NCIT:C61469|DOID:7997|EFO:0009190|ICD9:242.80|UMLS:C0040156|ICD9:242.90	predisposition	GRD1|Grd|Graves disease, susceptibility to, 1; GRD1|hyperthyroidism, autoimmune|thyrotoxicosis|Graves disease, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0010138	A hypermetabolic syndrome caused by the elevation of thyroid hormone levels in the serum. Signs and symptoms include tachycardia, palpitations, tremor, weight loss, warm weather intolerance, and moist skin. Causes include Graves disease, toxic nodular goiter, toxic thyroid nodule, and lymphocytic thyroiditis.	http://identifiers.org/omim/275000|DOID:7997|SNOMEDCT:90739004|UMLS:C0040156|MESH:D013971|NCIT:C61469
MONDO:0010137	thyroid dyshormonogenesis 5	biolink:Disease	mondo	UMLS:C0342196|SCTID:63127008|MESH:C562771|OMIM:274900		DUOXA2 familial thyroid dyshormonogenesis|thyroid hormonogenesis, genetic defect in, 5|TDH5|thyroid dyshormonogenesis 5|hypothyroidism, congenital, due to dyshormonogenesis, 5|familial thyroid dyshormonogenesis caused by mutation in DUOXA2|thyroid dyshormonogenesis type 5|thyroid dyshormonogenesis 5; TDH5	http://purl.obolibrary.org/obo/MONDO_0010137	Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOXA2 gene.	MESH:C562771|SNOMEDCT:63127008|http://identifiers.org/omim/274900|UMLS:C0342196
MONDO:0012798	deafness, unilateral, with delayed endolymphatic hydrops	biolink:Disease	mondo	UMLS:C2677512|MESH:C567420|OMIM:612097		deafness, unilateral, with delayed endolymphatic hydrops	http://purl.obolibrary.org/obo/MONDO_0012798		http://identifiers.org/omim/612097|UMLS:C2677512|MESH:C567420
MONDO:0022109	catatrichy	biolink:Disease	mondo	GARD:0010080|UMLS:C1861799|MESH:C535346	gard_rare	forelock	http://purl.obolibrary.org/obo/MONDO_0022109		UMLS:C1861799|MESH:C535346
MONDO:0012791	mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	biolink:Disease	mondo	ICD10:G71.3|MESH:C567624|Orphanet:1933|DOID:0080124|GARD:0003681|OMIM:612073	gard_rare|ordo_disease	mitochondrial DNA depletion syndrome type 5|MTDPS5|mitochondrial DNA depletion syndrome 5|encephalomyopathy|mitochondrial DNA depletion syndrome, encephalomyopathic form, with or without methylmalonic aciduria, autosomal recessive, Sucla2-related|mitochondrial encephalomyopathy aminoacidopathy|mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria|mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)|mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria); MTDPS5|booth-Haworth-Dilling syndrome|mitochondrial encephalomyopathy-aminoacidopathy syndrome|mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0012791	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA.	http://identifiers.org/omim/612073|DOID:0080124|MESH:C567624|ORPHA:1933
MONDO:0012792	mitochondrial DNA depletion syndrome 8a	biolink:Disease	mondo	OMIM:612075|SCTID:765100000|DOID:0080127|ICD10:G31.8|Orphanet:255235|GARD:0013200	ordo_disease	mitochondrial DNA depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive|mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy|Mngie, Rrm2B-related|mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)|RRM2B-related mitochondrial DNA depletion syndrome|RRM2B mitochondrial DNA depletion syndrome|mitochondrial neurogastrointestinal encephalopathy syndrome, Rrm2B-related|mitochondrial DNA depletion syndrome 8B (Mngie type)|mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy|encephalomyopathic type with renal tubulopathy|mitochondrial DNA depletion syndrome type 8a|MTDPS8A|mitochondrial DNA depletion syndrome caused by mutation in RRM2B|mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy); MTDPS8A	http://purl.obolibrary.org/obo/MONDO_0012792	Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene.	http://identifiers.org/omim/612075|DOID:0080127|ORPHA:255235|SNOMEDCT:765100000
NCBITaxon:1658400	Hectopsyllidae	organism taxon	mondo	GC_ID:1		Tunginae|Tungidae	http://purl.obolibrary.org/obo/NCBITaxon_1658400		
MONDO:0010130	dihydropyrimidine dehydrogenase deficiency	biolink:Disease	mondo	ICD9:277.2|GARD:0000019|OMIM:274270|ICD10:E79.8|UMLS:C1959620|Orphanet:1675|DOID:14218|MedDRA:10052622|SCTID:77365006|NCIT:C84672|MESH:D054067	ordo_disease|gard_rare	hereditary thymine-uraciluria|DYPD deficiency|familial pyrimidinaemia|thymine-Uraciluria, hereditary|dihydropyrimidine dehydrogenase deficiency|thymine-uracilurea|Dpyd deficiency|dihydrouracil dehydrogenase deficiency|DPD deficiency|5-fluorouracil toxicity|pyrimidinemia, familial|familial pyrimidinemia	http://purl.obolibrary.org/obo/MONDO_0010130	Dihydropyrimidine dehydrogenase (DPD) deficiency isaconditionin which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signsand symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior. All individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner.	SNOMEDCT:77365006|http://identifiers.org/omim/274270|MESH:D054067|MEDDRA:10052622|ORPHA:1675|DOID:14218|UMLS:C1959620|NCIT:C84672
MONDO:0012790	amyotrophic lateral sclerosis type 10	biolink:Disease	mondo	OMIM:612069|DOID:0060201|GARD:0010497|UMLS:C3502417|MESH:C567429	gard_rare	Ftld-TDP, Tardbp-related|amyotrophic lateral sclerosis 10, with or without frontotemporal dementia|ALS10|amyotrophic lateral sclerosis 10|frontotemporal lobar Degeneration with Tdp43 inclusions, Tardbp-related|TARDBP-related frontotemporal lobar degeneration with Tdp43 inclusions|frontotemporal dementia with Tdp43 inclusions, Tardbp-related|TARDBP amyotrophic lateral sclerosis|amyotrophic lateral sclerosis 10 with or without frontotemporal dementia|amyotrophic lateral sclerosis 10 with or without frontotemporal dementia; ALS10|amyotrophic lateral sclerosis caused by mutation in TARDBP	http://purl.obolibrary.org/obo/MONDO_0012790	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TARDBP gene.	http://identifiers.org/omim/612069|MESH:C567429|UMLS:C3502417|DOID:0060201
GO:0051119	sugar transmembrane transporter activity	biolink:OntologyClass	mondo			sugar/polyol channel activity	http://purl.obolibrary.org/obo/GO_0051119	Enables the transfer of a sugar from one side of a membrane to the other. A sugar is any member of a class of sweet, water-soluble, crystallizable carbohydrates, which are the monosaccharides and smaller oligosaccharides.	
MONDO:0000711	obsolete amyotrophic lateral sclerosis type 13	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000711		
MONDO:0000710	gastroduodenal Crohn disease	biolink:Disease	mondo	DOID:0060191|ICD10:K50.0		upper GI Crohn's disease|gastroduodenal Crohn's disease	http://purl.obolibrary.org/obo/MONDO_0000710	An inflammatory bowel disease characterized by inflammation located in stomach and located in duodenum, has symptom nausea, has symptom vomiting, has symptom weight loss and has symptom loss of appetite.	DOID:0060191
HGNC:4208	GCSH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4208		
HGNC:11714	TEAD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11714		
HGNC:11720	TECTA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11720		
MONDO:0000709	Crohn ileitis	biolink:Disease	mondo	NCIT:C35329|MedDRA:10021312|NDFRT:N0000001662|ICD9:558.9|UMLS:C0020877|SCTID:52457000|MESH:D007079|ICD10:K52.9|CSP:1248-5305|DOID:0060189		Crohn's ileitis|ileitis	http://purl.obolibrary.org/obo/MONDO_0000709	An Crohn disease involving a pathogenic inflammatory response in the ileum.	DOID:0060189|SNOMEDCT:52457000|UMLS:C0020877|NCIT:C35329|MESH:D007079
UBERON:0035956	epididymal lumen	biolink:AnatomicalEntity	mondo			epididymis lumen|lumen of epididymis	http://purl.obolibrary.org/obo/UBERON_0035956	The lumen of the epididymis	
MONDO:0012700	renal tubular acidosis, distal, 4, with hemolytic anemia	biolink:Disease	mondo	Orphanet:93610|UMLS:C1969038|OMIM:611590|ICD10:N25.8	ordo_clinical_subtype	renal tubular acidosis, distal, with hemolytic anemia|dRTA with anemia|distal renal tubular acidosis with anemia|RTA, distal, autosomal recessive, with hemolytic Anemia|renal tubular acidosis, distal, with normal Red cell morphology	http://purl.obolibrary.org/obo/MONDO_0012700	Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia.	http://identifiers.org/omim/611590|UMLS:C1969038|ORPHA:93610
HGNC:11724	TEK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11724		
MONDO:0012701	cataract 12 multiple types	biolink:Disease	mondo	OMIM:611597|ICD10:Q12.0|DOID:0110239|MESH:C566909		cataract 12, multiple types|cataract 12, multiple types; CTRCT12|CTRCT12	http://purl.obolibrary.org/obo/MONDO_0012701	A cataract that has material basis in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22.	http://identifiers.org/omim/611597|MESH:C566909|DOID:0110239
MONDO:0000704	lymphocytic colitis	biolink:Disease	mondo	DOID:0060184|UMLS:C0400822|MedDRA:10025268|GARD:0006939|ICD9:558.9|SCTID:31437008|MESH:D046730|NCIT:C27147|ICD10:K52.89|EFO:1001294|ICD10:K52.832|Orphanet:65279			http://purl.obolibrary.org/obo/MONDO_0000704	Microscopic colitis characterized by the accumulation of lymphocytes in the colonic epithelium and lamina propria. Patients present with chronic watery diarrhea. Colonoscopy reveals normal colonic mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples.	SNOMEDCT:31437008|MESH:D046730|UMLS:C0400822|DOID:0060184|NCIT:C27147|ORPHA:65279
HGNC:4218	GDF3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4218		
MONDO:0000703	collagenous colitis	biolink:Disease	mondo	NCIT:C27021|ICD10:K52.831|GARD:0006135|DOID:0060183|UMLS:C0238067|ICD9:558.9|MedDRA:10048928|Orphanet:36205|ICD10:K52.89|MESH:D046729|SCTID:19311003|EFO:1001293			http://purl.obolibrary.org/obo/MONDO_0000703	A type of microscopic colitis of unknown etiology. It is characterized by the presence of collagen deposits in the lamina propria of the colonic mucosa. Patients present with chronic watery diarrhea. Colonoscopy reveals normal-appearing mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples.	MESH:D046729|UMLS:C0238067|NCIT:C27021|SNOMEDCT:19311003|DOID:0060183|ORPHA:36205
GO:0004807	triose-phosphate isomerase activity	biolink:OntologyClass	mondo			D-glyceraldehyde-3-phosphate ketol-isomerase activity|triose phosphate mutase activity|triosephosphate isomerase activity|D-glyceraldehyde-3-phosphate aldose-ketose-isomerase activity|triose phosphoisomerase activity|triosephosphate mutase activity|phosphotriose isomerase activity	http://purl.obolibrary.org/obo/GO_0004807	Catalysis of the reaction: D-glyceraldehyde 3-phosphate = glycerone phosphate.	
HGNC:4217	GDF2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4217		
MONDO:0000702	microscopic colitis	biolink:Disease	mondo	MESH:D046728|DOID:0060182|UMLS:C0400821|Orphanet:58220|ICD9:558.9|NCIT:C38504|SCTID:235753003|EFO:1001295			http://purl.obolibrary.org/obo/MONDO_0000702	Inflammation of the colon that is only apparent by microscopic examination.	MESH:D046728|NCIT:C38504|ORPHA:58220|UMLS:C0400821|SNOMEDCT:235753003|DOID:0060182
MONDO:0000701	ischemic colitis	biolink:Disease	mondo	DOID:0060181|MESH:D017091|UMLS:C0162529|SCTID:30588004|ICD10:K55.9		colonic ischemia	http://purl.obolibrary.org/obo/MONDO_0000701	Inflammation of the colon due to colonic ischemia resulting from alterations in systemic circulation or local vasculature.	UMLS:C0162529|SNOMEDCT:30588004|DOID:0060181|MESH:D017091
UBERON:0008342	intestinal villus of duodenum	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0008342	An intestinal villus in the duodenum.	
UBERON:0008343	intestinal villus of jejunum	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0008343	An intestinal villus in the jejunum.	
MONDO:0000708	Crohn jejunoileitis	biolink:Disease	mondo	ICD10:K50.0|DOID:0060188		jejunoileitis	http://purl.obolibrary.org/obo/MONDO_0000708		DOID:0060188
HGNC:4214	GDF1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4214		
MONDO:0000707	diversion colitis	biolink:Disease	mondo	SCTID:51290000|ICD9:558.9|ICD10:K52|UMLS:C0267532|ICD9:558|DOID:0060187			http://purl.obolibrary.org/obo/MONDO_0000707	A colitis which can occur as a complication of ileostomy or colostomy.	UMLS:C0267532|SNOMEDCT:51290000|DOID:0060187
UBERON:0008344	intestinal villus of ileum	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0008344	An intestinal villus in the ileum.	
MONDO:0000706	chemical colitis	biolink:Disease	mondo	ICD9:558.9|ICD10:K52|SCTID:72965009|ICD9:558|DOID:0060186			http://purl.obolibrary.org/obo/MONDO_0000706	A colitis caused by the introduction of harsh chemicals to the colon by an enema or other procedure. Chemical colitis can resemble ulcerative colitis, infectious colitis and pseudomembranous colitis endoscopically.	SNOMEDCT:72965009|DOID:0060186
UBERON:0008345	ileal epithelium	biolink:AnatomicalEntity	mondo			epithelium of ileum	http://purl.obolibrary.org/obo/UBERON_0008345	An epithelium that is part of a ileum.	
MONDO:0000705	Clostridium difficile colitis	biolink:Disease	mondo	DOID:0060185|EFO:0009130|MedDRA:10009657|SCTID:423590009|MESH:D004761|ICD10:A04.7|NCIT:C35286		C. diff infection|pseudomembranous colitis|Clostridioides difficile colitis (disease)|Clostridium difficile infection|Clostridioides difficile caused colitis (disease)|C. diff colitis	http://purl.obolibrary.org/obo/MONDO_0000705	A bacterial infection of the colon secondary to infection with Clostridium difficile bacteria. This infection generally results from the loss of normal gut flora secondary to recent antibiotic use, and manifests as copious watery stools, with associated abdominal pain and myalgia. C. difficile is the most common cause of pseudomembranous colitis, and can progress to toxic megacolon if left untreated.	MESH:D004761|NCIT:C35286|DOID:0060185|SNOMEDCT:423590009
UBERON:0008346	duodenal epithelium	biolink:AnatomicalEntity	mondo			epithelium of duodenum	http://purl.obolibrary.org/obo/UBERON_0008346	An epithelium that is part of a duodenum.	
MONDO:0000722	non-syndromic synpolydactyly	biolink:Disease	mondo	DOID:0060242		nonsyndromic synpolydactyly|synpolydactyly|isolated synpolydactyly|syndactyly type 2	http://purl.obolibrary.org/obo/MONDO_0000722	A synpolydactyly that is not part of a larger syndrome.	DOID:0060242
MONDO:0000721	xanthinuria	biolink:Disease	mondo	OMIMPS:278300|SCTID:190919008|ICD9:277.2			http://purl.obolibrary.org/obo/MONDO_0000721	A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine.	SNOMEDCT:190919008
GO:0051128	regulation of cellular component organization	biolink:OntologyClass	mondo			regulation of cellular component organisation|regulation of cell organisation|regulation of cellular component organization and biogenesis|regulation of cell organization	http://purl.obolibrary.org/obo/GO_0051128	Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell structures, including the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope.	
MONDO:0000720	obsolete basal ganglia calcification	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000720		
GO:0051129	negative regulation of cellular component organization	biolink:OntologyClass	mondo			negative regulation of cellular component organization and biogenesis|negative regulation of cell organisation|down-regulation of cell organization|down regulation of cell organization|inhibition of cell organization|downregulation of cell organization	http://purl.obolibrary.org/obo/GO_0051129	Any process that stops, prevents, or reduces the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell structures, including the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope.	
UBERON:0011980	crurotarsal joint	biolink:AnatomicalEntity	mondo			crurotarsal	http://purl.obolibrary.org/obo/UBERON_0011980	A joint that connects the bones of the crus to the proximal tarsal bones	
CHEBI:26155	plant growth regulator	biolink:ChemicalSubstance	mondo			plant growth regulators	http://purl.obolibrary.org/obo/CHEBI_26155	A chemical, natural or artificial, that can affect the rate of growth of a plant.	
HGNC:11727	TERC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11727		
CHEBI:26151	piperidines	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_26151		
HGNC:4221	GDF6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4221		
UBERON:0011977	epiphysis of proximal phalanx of manus	biolink:AnatomicalEntity	mondo			epiphysis of proximal phalanx of finger	http://purl.obolibrary.org/obo/UBERON_0011977	An epiphysis that is part of a proximal phalanx of manus.	
UBERON:0011976	epiphysis of distal phalanx of pes	biolink:AnatomicalEntity	mondo			epiphysis of distal phalanx of toe	http://purl.obolibrary.org/obo/UBERON_0011976	An epiphysis that is part of a distal phalanx of pes.	
UBERON:0008337	inguinal part of abdomen	biolink:AnatomicalEntity	mondo			groin|inguen|iliac region|iliac fossa viewed surgically|groin area|inguinal region|inguinal region|iliac region|inguen|groin region	http://purl.obolibrary.org/obo/UBERON_0008337	The external junctural region between the lower part of the abdomen and the thigh.	
UBERON:0035965	wall of blood vessel	biolink:AnatomicalEntity	mondo			blood vessel wall|vascular wall	http://purl.obolibrary.org/obo/UBERON_0035965		
HGNC:11730	TERT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11730		
HGNC:4220	GDF5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4220		
UBERON:0011975	epiphysis of middle phalanx of pes	biolink:AnatomicalEntity	mondo			epiphysis of middle phalanx of toe	http://purl.obolibrary.org/obo/UBERON_0011975	An epiphysis that is part of a middle phalanx of pes.	
UBERON:0008338	plantar part of pes	biolink:AnatomicalEntity	mondo			plantar region|sole of foot|sole of the foot|pelma|planta|sole|planta|regio plantaris|soles of the feet|plantar part of foot|sole of foot	http://purl.obolibrary.org/obo/UBERON_0008338	The sole is the bottom of the foot.	
UBERON:0011974	epiphysis of proximal phalanx of pes	biolink:AnatomicalEntity	mondo			epiphysis of proximal phalanx of toe	http://purl.obolibrary.org/obo/UBERON_0011974	An epiphysis that is part of a proximal phalanx of pes.	
UBERON:0008339	microvascular endothelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0008339		
HGNC:6888	MAPKAPK3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6888		
UBERON:0011979	epiphysis of distal phalanx of manus	biolink:AnatomicalEntity	mondo			epiphysis of distal phalanx of finger	http://purl.obolibrary.org/obo/UBERON_0011979	An epiphysis that is part of a distal phalanx of manus.	
HGNC:11733	TEX11	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11733		
UBERON:0011978	epiphysis of middle phalanx of manus	biolink:AnatomicalEntity	mondo			epiphysis of middle phalanx of finger	http://purl.obolibrary.org/obo/UBERON_0011978	An epiphysis that is part of a middle phalanx of manus.	
MONDO:0000715	lymph node adenoid cystic carcinoma	biolink:Disease	mondo	DOID:0060219		lymph node adenoid cystic cancer|lymph node adenoid cystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0000715	A adenoid cystic carcinoma that involves the lymph node.	DOID:0060219
MONDO:0000714	obsolete crest syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000714		
MONDO:0000713	obsolete Balo concentric sclerosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000713		
MONDO:0000712	obsolete FTDALS	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000712		
HGNC:4226	GDI1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4226		
UBERON:0008331	clitoral smooth muscle	biolink:AnatomicalEntity	mondo			clitoris smooth muscle	http://purl.obolibrary.org/obo/UBERON_0008331	A smooth muscle tissue that is part of a clitoris.	
MONDO:0000719	obsolete Baraitser-winter syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000719		
MONDO:0000718	obsolete Adams-Oliver syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000718		
MONDO:0000717	obsolete acrofrontofacionasal dysostosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000717		
HGNC:6882	MAPK8IP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6882		
HGNC:4223	MSTN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4223		
MONDO:0000716	agraphia	biolink:Disease	mondo	DOID:0060223|ICD10:R48.8			http://purl.obolibrary.org/obo/MONDO_0000716	An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell.	DOID:0060223
UBERON:0011973	epiphysis of phalanx of pes	biolink:AnatomicalEntity	mondo			epiphysis of phalanx of toe	http://purl.obolibrary.org/obo/UBERON_0011973	An epiphysis that is part of a phalanx of a pes [Automatically generated definition].	
UBERON:0011972	medial ligament of ankle joint	biolink:AnatomicalEntity	mondo			medial collateral ligament of ankle joint|ligamentum deltoideum|ligamentum collaterale mediale articulationis talocruralis|ligamentum deltoideum (articulatio talocruralis)|deltoid collateral ligament of ankle joint|ligamentum collaterale mediale (articulatio talocruralis)|deltoid ligament of ankle joint	http://purl.obolibrary.org/obo/UBERON_0011972	A skeletal ligament that connects a tibia and connects a tarsal skeleton.	
UBERON:0011971	calcaneofibular ligament	biolink:AnatomicalEntity	mondo			ligamentum calcaneofibulare	http://purl.obolibrary.org/obo/UBERON_0011971	A skeletal ligament that connects the fibula to the calcaneus	
HGNC:4232	GDNF	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4232		
CHEBI:38106	organosulfur heterocyclic compound	biolink:ChemicalSubstance	mondo			organosulfur heterocyclic compounds|heterocyclic organosulfur compounds	http://purl.obolibrary.org/obo/CHEBI_38106		
NCBITaxon:2044726	Dioctophymatida	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2044726		
CHEBI:38104	oxacycle	biolink:ChemicalSubstance	mondo			oxacycles|heterocyclic organooxygen compounds|organooxygen heterocyclic compounds	http://purl.obolibrary.org/obo/CHEBI_38104	Any organic heterocyclic compound containing at least one ring oxygen atom.	
HGNC:6898	MARS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6898		
UBERON:0011968	radio-carpal joint	biolink:AnatomicalEntity	mondo			articulatio radiocarpea|radiocarpal articulation|wrist joint|radiocarpal joint	http://purl.obolibrary.org/obo/UBERON_0011968	A skeletal joint that connects a radius bone and connects a carpal skeleton.	
GO:0051130	positive regulation of cellular component organization	biolink:OntologyClass	mondo			positive regulation of cell organisation|up-regulation of cell organization|up regulation of cell organization|activation of cell organization|stimulation of cell organization|upregulation of cell organization|positive regulation of cellular component organization and biogenesis	http://purl.obolibrary.org/obo/GO_0051130	Any process that activates or increases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell structures, including the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope.	
HGNC:4238	GFI1B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4238		
HGNC:4237	GFI1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4237		
HGNC:4236	GFER	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4236		
HGNC:6891	MAPRE2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6891		
HGNC:4235	GFAP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4235		
CHEBI:38101	organonitrogen heterocyclic compound	biolink:ChemicalSubstance	mondo			organonitrogen heterocyclic compounds|heterocyclic organonitrogen compounds	http://purl.obolibrary.org/obo/CHEBI_38101	Any organonitrogen compound containing a cyclic component with nitrogen and at least one other element as ring member atoms.	
HGNC:6893	MAPT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6893		
UBERON:0008324	erectile tissue	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0008324	with numerous vascular spaces that may become engorged with blood	
GO:0051148	negative regulation of muscle cell differentiation	biolink:OntologyClass	mondo			inhibition of muscle cell differentiation|downregulation of muscle cell differentiation|down-regulation of muscle cell differentiation|down regulation of muscle cell differentiation	http://purl.obolibrary.org/obo/GO_0051148	Any process that stops, prevents, or reduces the frequency, rate or extent of muscle cell differentiation.	
GO:0051149	positive regulation of muscle cell differentiation	biolink:OntologyClass	mondo			up-regulation of muscle cell differentiation|up regulation of muscle cell differentiation|activation of muscle cell differentiation|stimulation of muscle cell differentiation|upregulation of muscle cell differentiation	http://purl.obolibrary.org/obo/GO_0051149	Any process that activates or increases the frequency, rate or extent of muscle cell differentiation.	
GO:0051146	striated muscle cell differentiation	biolink:OntologyClass	mondo			voluntary muscle cell differentiation	http://purl.obolibrary.org/obo/GO_0051146	The process in which a relatively unspecialized cell acquires specialized features of a striated muscle cell; striated muscle fibers are divided by transverse bands into striations, and cardiac and voluntary muscle are types of striated muscle.	
GO:0051147	regulation of muscle cell differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0051147	Any process that modulates the frequency, rate or extent of muscle cell differentiation.	
MONDO:0000700	familial hemiplegic migraine	biolink:Disease	mondo	OMIMPS:141500|NCIT:C117009|ICD9:346.8|GARD:0010975|DOID:0060178|ICD10:G43.8|SCTID:95656000		FHM|hereditary hemiplegic migraine|hemiplegic-ophthalmoplegic migraine|hemiplegic migraine, familial	http://purl.obolibrary.org/obo/MONDO_0000700	A migraine disorder characterized by individual and family history of aura that includes motor weakness.	NCIT:C117009|SNOMEDCT:95656000|DOID:0060178
HGNC:11708	TDO2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11708		
UBERON:0011960	articular capsule of glenohumeral joint	biolink:AnatomicalEntity	mondo			fibrous capsule of glenohumeral joint|capsule of shoulder joint|articular capsule of humerus|glenohumeral joint capsule|articular capsule of shoulder joint	http://purl.obolibrary.org/obo/UBERON_0011960	An articular capsule that is part of the glenohumeral joint.	
UBERON:0011955	left hepatic vein	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011955	A hepatic vein that is part of a left lobe of liver.	
HGNC:4241	GFPT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4241		
UBERON:0011953	stomach glandular region	biolink:AnatomicalEntity	mondo			glandular stomach	http://purl.obolibrary.org/obo/UBERON_0011953	A region of the stomach that is lined with glandular epithelium.	
UBERON:0011956	right hepatic vein	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011956	A hepatic vein that is part of a right lobe of liver.	
UBERON:0008310	nasopharyngeal gland	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0008310	A gland that is part of a nasopharynx.	
HGNC:4247	GGCX	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4247		
NCBITaxon:90964	Staphylococcaceae	organism taxon	mondo	GC_ID:11		Staphylococcus group	http://purl.obolibrary.org/obo/NCBITaxon_90964		
MONDO:0000751	cervical polyp (disease)	biolink:Disease	mondo	UMLS:C0007855|ICD10:D26.9|UMLS:C0347493|SCTID:65576009|ICD9:219|HP:0030159|COHD:4280498|NCIT:C2939|DOID:0060325|ICD10:D26		polyp of cervix|adenomatous polyp of cervix|cervical polyp|polyp of the cervix|adenomatous polyp of the cervix|polyp of cervix uteri|adenomatous polyp of uterine cervix|polyp of uterine cervix|polyp of the cervix uteri|adenomatous polyp of the uterine cervix|polyp of the uterine cervix|uterine cervix polyp|cervix polyp|cervix adenomatous polyp|cervix uteri adenomatous polyp|cervix uteri polyp|uterine cervix adenomatous polyp	http://purl.obolibrary.org/obo/MONDO_0000751	A polyp that arises from the surface of the cervix.	DOID:0060325|UMLS:C0007855|SNOMEDCT:65576009|UMLS:C0347493|NCIT:C2939
MONDO:0000750	dental abscess	biolink:Disease	mondo	SCTID:299709002|DOID:0060324|ICD10:K04.6|UMLS:C0518988			http://purl.obolibrary.org/obo/MONDO_0000750	A tooth disease characterized by a localized collection of pus associated with a tooth.	DOID:0060324|UMLS:C0518988|SNOMEDCT:299709002
HP:0001929	Reduced factor XI activity	biolink:PhenotypicFeature	mondo	UMLS:C0015523|MSH:D005173|SNOMEDCT_US:49762007		Low factor XI activity|Factor XI deficiency	http://purl.obolibrary.org/obo/HP_0001929	Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX.	
MONDO:0000755	ectopic pregnancy	biolink:Disease	mondo	GARD:0006318|ICD9:633.9|ICD10:O00.9|ICD9:633.8|ICD9:633.90|MESH:D011271|DOID:0060329|NCIT:C34945|ICD10:O00|ICD9:633|SCTID:34801009	gard_rare	extrauterine pregnancy|pregnancy, ectopic|eccyesis	http://purl.obolibrary.org/obo/MONDO_0000755	An abnormal pregnancy in which the conception is implanted outside the endometrial cavity.	SNOMEDCT:34801009|MESH:D011271|NCIT:C34945|DOID:0060329
MONDO:0000754	anal fistula (disease)	biolink:Disease	mondo	ICD10:K60.3|SCTID:72779005|HP:0010447|NCIT:C60785|Orphanet:228113|DOID:0060328|MESH:D012003		anorectal fistula|anal fistula	http://purl.obolibrary.org/obo/MONDO_0000754	A pathologic tract that connects an opening in the anal canal to the perianal skin. In the vast majority of cases there is a history of perianal abscess.	DOID:0060328|NCIT:C60785|ORPHA:228113|SNOMEDCT:72779005|MESH:D012003
MONDO:0000753	obsolete omphalocele	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000753		
MONDO:0000752	obsolete myelomeningocele	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000752		
MONDO:0012737	long QT syndrome 10	biolink:Disease	mondo	MESH:C567514|OMIM:611819|DOID:0110651|ICD10:I45.8|UMLS:C2678484|GARD:0010436	gard_rare	long QT syndrome type 10|atrial fibrillation, familial, 17|long QT syndrome 10|long QT syndrome 10; LQT10|long QT syndrome caused by mutation in SCN4B|LQT10|SCN4B long QT syndrome	http://purl.obolibrary.org/obo/MONDO_0012737	Any long QT syndrome in which the cause of the disease is a mutation in the SCN4B gene.	MESH:C567514|http://identifiers.org/omim/611819|DOID:0110651|UMLS:C2678484
MONDO:0012738	long QT syndrome 11	biolink:Disease	mondo	OMIM:611820|MESH:C567513|UMLS:C2678483|DOID:0110652|ICD10:I45.8|GARD:0010437	gard_rare	long QT syndrome caused by mutation in AKAP9|LQT11|long QT syndrome type 11|long QT syndrome 11|long QT syndrome 11; LQT11|AKAP9 long QT syndrome	http://purl.obolibrary.org/obo/MONDO_0012738	Any long QT syndrome in which the cause of the disease is a mutation in the AKAP9 gene.	MESH:C567513|http://identifiers.org/omim/611820|DOID:0110652|UMLS:C2678483
HP:0001924	Sideroblastic anemia	biolink:PhenotypicFeature	mondo	MSH:D000756|SNOMEDCT_US:41841004|UMLS:C0002896		Sideroblastic anaemia|Hypersideremic anemia	http://purl.obolibrary.org/obo/HP_0001924	Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining).	
MONDO:0012735	Temple-Baraitser syndrome	biolink:Disease	mondo	EFO:0009062|OMIM:611816|Orphanet:420561|UMLS:C2678486|ICD10:Q87.2|MESH:C567516|GARD:0009441	ordo_disease	severe mental retardation and absent nails of hallux and pollex|severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome|intellectual disability, severe, and absent nails of hallux and pollex|severe intellectual disability and absent nails of hallux and pollex|TMBTS|Temple-Baraitser syndrome; TMBTS|Temple-Baraitser syndrome|mental retardation, severe, and absent nails of hallux and pollex	http://purl.obolibrary.org/obo/MONDO_0012735	Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.	http://identifiers.org/omim/611816|ORPHA:420561|UMLS:C2678486|MESH:C567516
NCBITaxon:652611	Pseudomonas aeruginosa PA14	organism taxon	mondo	GC_ID:11		Pseudomonas aeruginosa str. PA14|Pseudomonas aeruginosa strain PA14	http://purl.obolibrary.org/obo/NCBITaxon_652611		
MONDO:0012736	long QT syndrome 9	biolink:Disease	mondo	ICD10:I45.8|DOID:0110650|OMIM:611818|MESH:C567515|GARD:0010435	gard_rare	long QT syndrome 9; LQT9|long QT syndrome type 9|long QT syndrome 9|CAV3 long QT syndrome|long QT syndrome caused by mutation in CAV3|long QT syndrome 2/9, digenic|LQT9|long QT syndrome 9, acquired, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0012736	Any long QT syndrome in which the cause of the disease is a mutation in the CAV3 gene.	MESH:C567515|http://identifiers.org/omim/611818|DOID:0110650
HP:0001927	Acanthocytosis	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:250249008|UMLS:C0687751	hposlim_core	Acanthocytes|Red cell acanthocytosis	http://purl.obolibrary.org/obo/HP_0001927	Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.	
HP:0001928	Abnormality of coagulation	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:362970003|MSH:D006474|UMLS:C1846821|SNOMEDCT_US:64779008|MSH:D001778|UMLS:C0019087|UMLS:C0005779		Abnormal blood coagulation studies|Blood coagulation disorder|Coagulation abnormality|Coagulation abnormalities|Haemorrhagic disorders	http://purl.obolibrary.org/obo/HP_0001928	An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot.	
MONDO:0012739	microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome	biolink:Disease	mondo	MESH:C567512|Orphanet:139450|ICD10:Q15.8|OMIM:611863|UMLS:C2678482|GARD:0010300	ordo_malformation_syndrome	microtia eye coloboma and imperforation of the nasolacrimal duct|Balikova-Vermeesch syndrome|microtia with nasolacrimal duct imperforation and eye coloboma	http://purl.obolibrary.org/obo/MONDO_0012739	This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.	MESH:C567512|http://identifiers.org/omim/611863|ORPHA:139450|UMLS:C2678482
MONDO:0012740	chromosome 22q11.2 deletion syndrome, distal	biolink:Disease	mondo	UMLS:C2678480|UMLS:C4518343|SCTID:734029004|Orphanet:261330|ICD10:Q93.5|DOID:0060413|OMIM:611867|MESH:C567511	ordo_malformation_syndrome	chromosome 22q11.2 deletion syndrome, distal|distal monosomy 22q11.2|distal del(22)(q11.2)|distal 22q11.2 microdeletion syndrome|distal chromosome 22Q11.2 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0012740	Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.	DOID:0060413|SNOMEDCT:734029004|UMLS:C4518343|UMLS:C2678480|ORPHA:261330|MESH:C567511|http://identifiers.org/omim/611867
MONDO:0012741	prostate cancer, hereditary, 12	biolink:Disease	mondo	MESH:C567510|OMIM:611868|UMLS:C2678479		prostate cancer, hereditary, 12|prostate cancer, hereditary, 12; HPC12|HPC12|EHBP1 familial prostate cancer|prostate cancer, hereditary, type 12|familial prostate cancer caused by mutation in EHBP1	http://purl.obolibrary.org/obo/MONDO_0012741	Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene.	http://identifiers.org/omim/611868|UMLS:C2678479|MESH:C567510
MONDO:0012744	dilated cardiomyopathy 1Y	biolink:Disease	mondo	DOID:0110457|ICD10:I42.0|MESH:C567507|OMIM:611878		dilated cardiomyopathy type 1Y|CMD1Y|cardiomyopathy, dilated, type 1Y|cardiomyopathy, dilated, 1Y|cardiomyopathy, dilated, 1Y; CMD1Y|familial isolated dilated cardiomyopathy caused by mutation in TPM1|left ventricular noncompaction 9|TPM1 familial isolated dilated cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0012744	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene.	http://identifiers.org/omim/611878|DOID:0110457|MESH:C567507
HGNC:4250	GGT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4250		
HP:0001920	Renal artery stenosis	biolink:PhenotypicFeature	mondo	UMLS:C0035067|SNOMEDCT_US:302233006|SNOMEDCT_US:282664001|MSH:D012078|Fyler:2634		Narrowing of kidney artery	http://purl.obolibrary.org/obo/HP_0001920	The presence of stenosis of the renal artery.	
MONDO:0012745	dilated cardiomyopathy 1Z	biolink:Disease	mondo	UMLS:C2678475|DOID:0110434|ICD10:I42.0|OMIM:611879|MESH:C567506		TNNC1 familial isolated dilated cardiomyopathy|familial isolated dilated cardiomyopathy caused by mutation in TNNC1|CMD1Z|dilated cardiomyopathy type 1Z|cardiomyopathy, dilated, type 1Z|cardiomyopathy, dilated, 1Z|cardiomyopathy, dilated, 1Z; CMD1Z	http://purl.obolibrary.org/obo/MONDO_0012745	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene.	http://identifiers.org/omim/611879|DOID:0110434|UMLS:C2678475|MESH:C567506
MONDO:0012742	Brugada syndrome 3	biolink:Disease	mondo	OMIM:611875|ICD10:I49.8|GARD:0010361|MESH:C567509|DOID:0110220|UMLS:C2678478	gard_rare	Brugada syndrome 3|CACNA1C Brugada syndrome|Brugada syndrome type 3|Brugada syndrome caused by mutation in CACNA1C|Brugada syndrome 3; BRGDA3|BRGDA3	http://purl.obolibrary.org/obo/MONDO_0012742	Any Brugada syndrome in which the cause of the disease is a mutation in the CACNA1C gene.	http://identifiers.org/omim/611875|DOID:0110220|UMLS:C2678478|MESH:C567509
MONDO:0012743	Brugada syndrome 4	biolink:Disease	mondo	ICD10:I49.8|GARD:0010362|DOID:0110221|MESH:C567508|UMLS:C2678477|OMIM:611876	gard_rare	Brugada syndrome caused by mutation in CACNB2|Brugada syndrome 4|CACNB2 Brugada syndrome|Brugada syndrome type 4|BRGDA4|Brugada syndrome 4; BRGDA4	http://purl.obolibrary.org/obo/MONDO_0012743	Any Brugada syndrome in which the cause of the disease is a mutation in the CACNB2 gene.	DOID:0110221|http://identifiers.org/omim/611876|UMLS:C2678477|MESH:C567508
MONDO:0000748	mastoiditis (disease)	biolink:Disease	mondo	ICD10:H70.90|COHD:374655|NCIT:C128368|SCTID:52404001|ICD9:383.9|DOID:0060322|HP:0000265|UMLS:C0024904|ICD10:H70.9|MESH:D008417		mastoiditis|inflammation of mastoid process of temporal bone|mastoid process of temporal bone inflammation|mastoid process of temporal boneitis	http://purl.obolibrary.org/obo/MONDO_0000748	Inflammation of the mucosal lining of the mastoid antrum and mastoid air cell system of the mastoid process.	NCIT:C128368|MESH:D008417|DOID:0060322|UMLS:C0024904|SNOMEDCT:52404001
MONDO:0024715	benign synovial neoplasm	biolink:Disease	mondo	NCIT:C3829|UMLS:C0221289|ICDO:9040/0		synovium neoplasm, benign|synovioma, benign|benign synovial tumor|benign tumor of synovium|benign tumor of the synovium|benign synovioma|benign synovium neoplasm|benign neoplasm of synovium|benign neoplasm of the synovium|benign synovial neoplasm	http://purl.obolibrary.org/obo/MONDO_0024715	A benign neoplasm arising from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath and localized giant cell tumor of tendon sheath.	UMLS:C0221289|NCIT:C3829
MONDO:0000747	obsolete umbilical hernia	biolink:Disease	mondo	COHD:4245842|DOID:0060321|NCIT:C118375|ICD9:756.72|ICD9:553.1|UMLS:C0019322|SCTID:396347007|MESH:D006554|HP:0001537|ICD10:Q79.2			http://purl.obolibrary.org/obo/MONDO_0000747	A congenital defect in the muscles of the abdominal wall that results in the intestines and other abdominal organs developing outside the abdominal wall covered in a sac.	SNOMEDCT:396347007|UMLS:C0019322|MESH:D006554|DOID:0060321|NCIT:C118375
MONDO:0000746	obsolete inguinal hernia	biolink:Disease	mondo	HP:0000023|SCTID:396232000|MESH:D006552|NCIT:C34690|COHD:4288544|DOID:0060320|ICD9:550.90|ICD10:K40.90|ICD10:K40|ICD9:550			http://purl.obolibrary.org/obo/MONDO_0000746	The protrusion of a sac-like structure containing fibroadipose tissue through an abnormal opening in the inguinal region.	NCIT:C34690|MESH:D006552|DOID:0060320|SNOMEDCT:396232000
MONDO:0000745	cardiac arrest	biolink:Disease	mondo	ICD10:I46|ICD9:427.5|MESH:D006323|COHD:321042|DOID:0060319|UMLS:C0018790|SCTID:410429000|UMLS:C0444720		cardiopulmonary arrest|circulatory arrest	http://purl.obolibrary.org/obo/MONDO_0000745	Cessation of breathing and/or cardiac function.	NCIT:C50483|NCIT:C50479|MESH:D006323|SNOMEDCT:410429000|DOID:0060319|UMLS:C0444720|UMLS:C0018790
GO:0051155	positive regulation of striated muscle cell differentiation	biolink:OntologyClass	mondo			upregulation of striated muscle cell differentiation|up regulation of striated muscle cell differentiation|stimulation of striated muscle cell differentiation|up-regulation of striated muscle cell differentiation|activation of striated muscle cell differentiation	http://purl.obolibrary.org/obo/GO_0051155	Any process that activates or increases the frequency, rate or extent of striated muscle cell differentiation.	
GO:0051153	regulation of striated muscle cell differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0051153	Any process that modulates the frequency, rate or extent of striated muscle cell differentiation.	
MONDO:0000749	breast abscess	biolink:Disease	mondo	DOID:0060323|SCTID:28432003|UMLS:C0151463			http://purl.obolibrary.org/obo/MONDO_0000749	A breast disease characterized by a collection of pus in the breast.	UMLS:C0151463|SNOMEDCT:28432003|DOID:0060323
GO:0051154	negative regulation of striated muscle cell differentiation	biolink:OntologyClass	mondo			inhibition of striated muscle cell differentiation|down-regulation of striated muscle cell differentiation|downregulation of striated muscle cell differentiation|down regulation of striated muscle cell differentiation	http://purl.obolibrary.org/obo/GO_0051154	Any process that stops, prevents, or reduces the frequency, rate or extent of striated muscle cell differentiation.	
MONDO:0000762	syndrome caused by partial chromosomal duplication	biolink:Disease	mondo	DOID:0060429		chromosomal duplication syndrome	http://purl.obolibrary.org/obo/MONDO_0000762		DOID:0060429
MONDO:0000761	syndrome caused by partial chromosomal deletion	biolink:Disease	mondo	DOID:0060388		chromosomal deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0000761		DOID:0060388
MONDO:0000760	obsolete acrofacial dysostosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000760		
MONDO:0000766	corneal endothelial dystrophy	biolink:Disease	mondo	DOID:0060443|ICD9:371.57|COHD:443740|SCTID:416960004		corneal epithelium corneal dystrophy (disease)|endothelial dystrophy|corneal dystrophy (disease) of corneal epithelium	http://purl.obolibrary.org/obo/MONDO_0000766	A corneal dystrophy (disease) that involves the corneal epithelium.	DOID:0060443|SNOMEDCT:416960004
MONDO:0024711	malignant mixed epithelial stromal tumor of the kidney	biolink:Disease	mondo	NCIT:C37265|UMLS:C1334602		malignant mixed epithelial stromal tumor of the kidney|mixed epithelial stromal tumor of the kidney, malignant|malignant MEST	http://purl.obolibrary.org/obo/MONDO_0024711	A mixed epithelial stromal tumor of the kidney with malignant stromal features.	NCIT:C37265|UMLS:C1334602
MONDO:0000765	obsolete corneal stromal dystrophy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000765		
MONDO:0000764	epithelial-stromal TGFBI dystrophy	biolink:Disease	mondo	DOID:0060441		corneal dystrophy (disease) caused by mutation in TGFBI|TGFBI corneal dystrophy (disease)	http://purl.obolibrary.org/obo/MONDO_0000764	Any corneal dystrophy (disease) in which the cause of the disease is a mutation in the TGFBI gene.	DOID:0060441
MONDO:0000763	epithelial and subepithelial corneal dystrophy	biolink:Disease	mondo	DOID:0060440		epithelial and subepithelial dystrophy	http://purl.obolibrary.org/obo/MONDO_0000763		DOID:0060440
MONDO:0012726	autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	biolink:Disease	mondo	OMIM:611773|GARD:0010889|Orphanet:73229|SCTID:702428000|ICD9:758.89|MESH:C567088|UMLS:C2673195|ICD10:I99	ordo_disease	angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps|HANAC syndrome|hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome|HANAC|hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome|angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; HANAC	http://purl.obolibrary.org/obo/MONDO_0012726	Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterised by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal haemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures.	MESH:C567088|ORPHA:73229|SNOMEDCT:702428000|http://identifiers.org/omim/611773|UMLS:C2673195
MONDO:0012727	mucocutaneous lymph node syndrome	biolink:Disease	mondo	Orphanet:2331|SCTID:75053002|MedDRA:10023320|UMLS:C0026691|GARD:0006816|OMIM:611775|MESH:D009080|EFO:0004246|DOID:13378|NCIT:C34825|ICD10:M30.3|ICD9:446.1	ordo_disease	acute febrile mucocutaneous lymph node syndrome|acute febrile mucocutaneous lymph node syndrome [MCLS]|MLNS|Kd|Kawasaki disease|acute febrile MCLS|infantile polyarteritis|mucocutaneous lymph node syndrome|Kawasaki syndrome|Kawasaki's disease|infantile polyarteritis nodosa	http://purl.obolibrary.org/obo/MONDO_0012727	Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood.	MESH:D009080|ORPHA:2331|MEDDRA:10023320|UMLS:C0026691|http://identifiers.org/omim/611775|NCIT:C34825|DOID:13378|SNOMEDCT:75053002
HP:0001935	Microcytic anemia	biolink:PhenotypicFeature	mondo	UMLS:C0085576|SNOMEDCT_US:234349007|MSH:C562385		Microcytic anaemia	http://purl.obolibrary.org/obo/HP_0001935	A kind of anemia in which the volume of the red blood cells is reduced.	
MONDO:0012724	familial cold autoinflammatory syndrome 2	biolink:Disease	mondo	OMIM:611762|ICD10:E85.0|MESH:C567090|UMLS:C2673198|UMLS:C3897034|Orphanet:247868|DOID:0090063|NCIT:C119043	ordo_disease	NLRP12 familial cold autoinflammatory syndrome|familial cold autoinflammatory syndrome 2|NALP12-associated hereditary periodic fever syndrome|familial cold autoinflammatory syndrome caused by mutation in NLRP12|familial cold autoinflammatory syndrome 2; FCAS2|NAPS12|familial cold autoinflammatory syndrome type 2|NLRP12-associated hereditary periodic fever syndrome|FCAS2	http://purl.obolibrary.org/obo/MONDO_0012724	An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month.	http://identifiers.org/omim/611762|UMLS:C3897034|DOID:0090063|UMLS:C2673198|NCIT:C119043|ORPHA:247868|MESH:C567090
MONDO:0012725	lipoprotein glomerulopathy	biolink:Disease	mondo	SCTID:446923008|OMIM:611771|ICD10:N07.8|Orphanet:329481|UMLS:C2673196|MESH:C567089|ICD9:272.8|ICD9:593.89	ordo_disease	lipoprotein glomerulopathy; LPG|lipoprotein glomerulopathy|LPG	http://purl.obolibrary.org/obo/MONDO_0012725		ORPHA:329481|http://identifiers.org/omim/611771|UMLS:C2673196|SNOMEDCT:446923008|MESH:C567089
HP:0001933	Subcutaneous hemorrhage	biolink:PhenotypicFeature	mondo	UMLS:C0854107		Bleeding below the skin|Subcutaneous haemorrhage	http://purl.obolibrary.org/obo/HP_0001933	This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses).	
HP:0001939	Abnormality of metabolism/homeostasis	biolink:PhenotypicFeature	mondo	UMLS:C4021768		Metabolism abnormality|Laboratory abnormality	http://purl.obolibrary.org/obo/HP_0001939		
MONDO:0012728	Brugada syndrome 2	biolink:Disease	mondo	ICD10:I49.8|DOID:0110219|UMLS:C2673193|MESH:C567087|OMIM:611777		Brugada syndrome caused by mutation in GPD1L|Brugada syndrome 2; BRGDA2|GPD1L Brugada syndrome|Brugada syndrome type 2|Brugada syndrome 2|BRGDA2	http://purl.obolibrary.org/obo/MONDO_0012728	Any Brugada syndrome in which the cause of the disease is a mutation in the GPD1L gene.	MESH:C567087|http://identifiers.org/omim/611777|DOID:0110219|UMLS:C2673193
MONDO:0012729	erythrocytosis, familial, 4	biolink:Disease	mondo	OMIM:611783|UMLS:C2673187|MESH:C567086|DOID:0080339		erythrocytosis, familial, type 4|familial polycythemia caused by mutation in EPAS1|erythrocytosis, familial, 4; ECYT4|ECYT4|EPAS1 familial polycythemia|erythrocytosis, familial, 4	http://purl.obolibrary.org/obo/MONDO_0012729	Any familial polycythemia in which the cause of the disease is a mutation in the EPAS1 gene.	MESH:C567086|DOID:0080339|http://identifiers.org/omim/611783|UMLS:C2673187
MONDO:0012730	aortic aneurysm, familial thoracic 6	biolink:Disease	mondo	MESH:C567085|UMLS:C2673186|OMIM:611788		aortic aneurysm, familial thoracic 6; AAT6|AAT6|ACTA2 familial thoracic aortic aneurysm and aortic dissection|familial thoracic aortic aneurysm with livedo reticularis and iris flocculi|familial thoracic aortic aneurysm and aortic dissection caused by mutation in ACTA2|aortic aneurysm, familial thoracic 6|aortic aneurysm, familial thoracic type 6	http://purl.obolibrary.org/obo/MONDO_0012730	Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene.	http://identifiers.org/omim/611788|UMLS:C2673186|MESH:C567085
HGNC:4263	GHR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4263		
MONDO:0012733	autosomal recessive bestrophinopathy	biolink:Disease	mondo	SCTID:723828008|DOID:0050662|UMLS:C3888198|UMLS:C2678493|Orphanet:139455|MESH:C567518|OMIM:611809|ICD10:H35.5	ordo_disease	bestrophinopathy, autosomal recessive; ARB|bestrophinopathy, autosomal recessive|retinopathy, Burgess-Black type|ARB|bestrophinopathy	http://purl.obolibrary.org/obo/MONDO_0012733	Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).	http://identifiers.org/omim/611809|DOID:0050662|SNOMEDCT:723828008|ORPHA:139455|UMLS:C2678493|UMLS:C3888198|MESH:C567518
HGNC:4261	GH1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4261		
HP:0001931	Hypochromic anemia	biolink:PhenotypicFeature	mondo	MSH:D000747|UMLS:C0002884|SNOMEDCT_US:44452003		Hypochromic anaemia	http://purl.obolibrary.org/obo/HP_0001931	A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes.	
MONDO:0012734	SERKAL syndrome	biolink:Disease	mondo	ICD10:Q87.8|UMLS:C2678492|GARD:0010302|Orphanet:139466|NCIT:C123726|OMIM:611812|SCTID:723720008|MESH:C567517	ordo_malformation_syndrome	46,XX SEX reversal with dysgenesis of kidneys, ADRENALS, and lungs; SERKAL|46,XX SEX reversal with dysgenesis of kidneys, ADRENALS, and lungs|46,XX Sex reversal with dysgenesis of kidneys Adrenals and lungs|Sex reversion-kidneys, adrenal and lung dysgenesis syndrome|SERKAL syndrome|SERKAL	http://purl.obolibrary.org/obo/MONDO_0012734	SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.	http://identifiers.org/omim/611812|ORPHA:139466|UMLS:C2678492|NCIT:C123726|SNOMEDCT:723720008|MESH:C567517
MONDO:0012731	elliptocytosis 1	biolink:Disease	mondo	MESH:C567520|UMLS:C2678497|OMIM:611804		Protein 4.1 of erythrocyte Membrane, defect of|elliptocytosis 1; EL1|elliptocytosis, Rhesus-linked type|elliptocytosis type 1|EPB41 hereditary elliptocytosis|EL1|hereditary elliptocytosis caused by mutation in EPB41|4.1-minus trait|elliptocytosis 1|4.1- trait	http://purl.obolibrary.org/obo/MONDO_0012731	Any hereditary elliptocytosis in which the cause of the disease is a mutation in the EPB41 gene.	http://identifiers.org/omim/611804|UMLS:C2678497|MESH:C567520
MONDO:0012732	tremor, hereditary essential, and idiopathic normal pressure hydrocephalus	biolink:Disease	mondo	OMIM:611808|MESH:C567519|UMLS:C2678494		ETINPH|tremor, hereditary essential, and idiopathic normal pressure hydrocephalus; ETINPH|tremor, hereditary essential, and idiopathic normal pressure hydrocephalus	http://purl.obolibrary.org/obo/MONDO_0012732		http://identifiers.org/omim/611808|UMLS:C2678494|MESH:C567519
UBERON:0035927	sulcus of parietal lobe	biolink:AnatomicalEntity	mondo			parietal lobe sulci|parietal lobe sulcus|PLs	http://purl.obolibrary.org/obo/UBERON_0035927		
MONDO:0000759	obsolete acrorenal syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000759		
MONDO:0000758	bacillary angiomatosis	biolink:Disease	mondo	UMLS:C0085434|MESH:D016917|DOID:0060345|SCTID:58213005|NCIT:C3477|ICD9:083.8		Bartonella angiomatosis|bacillary epithelioid Angiomatoses|angiomatoses, epithelioid|Bartonella caused angiomatosis|bacillary angiomatosis|bacillary Angiomatoses|angiomatoses, bacillary|angiomatosis, bacillary epithelioid|epithelioid angiomatosis, bacillary|epithelioid angiomatosis|epithelioid Angiomatoses|angiomatosis, epithelioid|bacillary epithelioid angiomatosis|epithelioid Angiomatoses, bacillary|angiomatoses, bacillary epithelioid	http://purl.obolibrary.org/obo/MONDO_0000758	A condition that is caused by infection with Bartonella, and which is characterized by vascular proliferation, usually in immunocompromised individuals.	DOID:0060345|NCIT:C3477|SNOMEDCT:58213005|MESH:D016917|UMLS:C0085434
MONDO:0000757	glucocorticoid-induced osteoporosis	biolink:Disease	mondo	DOID:0060343		steroid-induced osteoporosis	http://purl.obolibrary.org/obo/MONDO_0000757	An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption.	DOID:0060343
MONDO:0000756	parameningeal embryonal rhabdomyosarcoma	biolink:Disease	mondo	DOID:0060338			http://purl.obolibrary.org/obo/MONDO_0000756	An embryonal rhabdomyosarcoma located in the parameningeal region.	DOID:0060338
HGNC:4268	CBLIF	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4268		
GO:0099106	ion channel regulator activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0099106	Modulates the activity of a channel via direct interaction with it. A channel catalyzes energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel.	
HGNC:4266	GHRHR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4266		
HP:0001909	Leukemia	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:269475001|UMLS:C0376545|MSH:D019337|SNOMEDCT_US:93143009|SNOMEDCT_US:87163000|SNOMEDCT_US:129154003|MSH:D007938|UMLS:C0023418		Blood cancer|Leukaemia	http://purl.obolibrary.org/obo/HP_0001909	A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.	
GO:0051179	localization	biolink:OntologyClass	mondo			single-organism localization|single organism localization|establishment and maintenance of cellular component location|establishment and maintenance of substance location|establishment and maintenance of substrate location|establishment and maintenance of localization|establishment and maintenance of position|localisation	http://purl.obolibrary.org/obo/GO_0051179	Any process in which a cell, a substance, or a cellular entity, such as a protein complex or organelle, is transported, tethered to or otherwise maintained in a specific location. In the case of substances, localization may also be achieved via selective degradation.	
HP:0001907	Thromboembolism	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:371039008|UMLS:C0085307|MSH:D013923|SNOMEDCT_US:13713005|UMLS:C0040038|MSH:D016769		Embolism and thrombosis|Thromboembolic disease|Blood clot in blood vessel|Thromboembolic events	http://purl.obolibrary.org/obo/HP_0001907	The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site.	
MONDO:0000733	cornea plana	biolink:Disease	mondo	DOID:0060287|SCTID:204145006|HP:0007720|ICD10:Q13.4|OMIMPS:121400		flat cornea	http://purl.obolibrary.org/obo/MONDO_0000733		SNOMEDCT:204145006|DOID:0060287
MONDO:0000732	combined oxidative phosphorylation deficiency	biolink:Disease	mondo	OMIMPS:609060|GARD:0012893|DOID:0060286	gard_rare		http://purl.obolibrary.org/obo/MONDO_0000732	A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes.	DOID:0060286
MONDO:0000731	obsolete peeling skin syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000731		
MONDO:0000730	obsolete pontocerebellar hypoplasia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000730		
MONDO:0012715	MGR12	biolink:Disease	mondo	OMIM:611706	predisposition	migraine with or without aura, susceptibility to, 12|MGR12|migraine with or without aura, susceptibility to, 12; MGR12	http://purl.obolibrary.org/obo/MONDO_0012715		http://identifiers.org/omim/611706
MONDO:0012716	spondyloepiphyseal dysplasia, Cantu type	biolink:Disease	mondo	GARD:0010629|Orphanet:163654|MESH:C567128|UMLS:C2673649|OMIM:611717|SCTID:718765003|ICD10:Q77.7	ordo_disease	Sed-BDS|fantasy Island syndrome|SED-BDS|spondyloepiphyseal dysplasia-brachydactyly and distinctive speech|tattoo dysplasia|Tatoo dysplasia|spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome	http://purl.obolibrary.org/obo/MONDO_0012716	Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).	MESH:C567128|http://identifiers.org/omim/611717|ORPHA:163654|UMLS:C2673649|SNOMEDCT:718765003
MONDO:0012713	spondylometaphyseal dysplasia, East African type	biolink:Disease	mondo	OMIM:611702|MESH:C535796|GARD:0004992|UMLS:C2673686	gard_rare	spondylometaphyseal dysplasia, East African type|spondylometaphyseal dysplasia East-African type	http://purl.obolibrary.org/obo/MONDO_0012713		http://identifiers.org/omim/611702|MESH:C535796|UMLS:C2673686
MONDO:0012714	early-onset myopathy with fatal cardiomyopathy	biolink:Disease	mondo	MESH:C567129|UMLS:C2673677|ICD10:G71.8|Orphanet:289377|OMIM:611705|SCTID:702343002	ordo_disease	myopathy, early-onset, with fatal cardiomyopathy|Salih myopathy|EOMFC|Salih myopathy; SALMY|SALMY	http://purl.obolibrary.org/obo/MONDO_0012714		MESH:C567129|SNOMEDCT:702343002|http://identifiers.org/omim/611705|UMLS:C2673677|ORPHA:289377
MONDO:0012719	encephalopathy due to prosaposin deficiency	biolink:Disease	mondo	OMIM:611721|Orphanet:139406|SCTID:720864008|GARD:0012505|DOID:0111330|UMLS:C4303785|MESH:C567125|UMLS:C2673635|ICD10:E75.2	ordo_disease|gard_rare	combined Sap deficiency|combined SAP deficiency|combined saposin deficiency|PSAPD|prosaposin deficiency|combined prosaposin deficiency	http://purl.obolibrary.org/obo/MONDO_0012719	Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses.	SNOMEDCT:720864008|MESH:C567125|DOID:0111330|http://identifiers.org/omim/611721|UMLS:C4303785|UMLS:C2673635|ORPHA:139406
MONDO:0012717	renal hypomagnesemia 4	biolink:Disease	mondo	ICD10:E83.4|MESH:C567127|DOID:0060882|OMIM:611718|UMLS:C2673648		hypomagnesemia 4, renal; HOMG4|familial primary hypomagnesemia caused by mutation in EGF|HOMG4|primary hypomagnesemia caused by mutation in EGF|hypomagnesemia, renal, Normocalciuric|renal hypomagnesemia type 4|EGF primary hypomagnesemia|EGF familial primary hypomagnesemia|hypomagnesemia 4, renal	http://purl.obolibrary.org/obo/MONDO_0012717	Any primary hypomagnesemia in which the cause of the disease is a mutation in the EGF gene.	MESH:C567127|http://identifiers.org/omim/611718|UMLS:C2673648|DOID:0060882
HP:0001903	Anemia	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:271737000|UMLS:C0002871|UMLS:C0162119|SNOMEDCT_US:165397008|MSH:D000740		Anaemia|Low number of red blood cells or hemoglobin|Decreased hemoglobin	http://purl.obolibrary.org/obo/HP_0001903	A reduction in erythrocytes volume or hemoglobin concentration.	
MONDO:0012718	hypotonia with lactic acidemia and hyperammonemia	biolink:Disease	mondo	ICD10:E88.8|UMLS:C2673642|DOID:0111473|OMIM:611719|MESH:C567126|SCTID:724279004|Orphanet:137908|UMLS:C4510567	ordo_disease	combined oxidative phosphorylation deficiency 5; COXPD5|combined oxidative phosphorylation deficiency 5|combined oxidative phosphorylation defect type 5|COXPD5|MRPS22 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency type 5|combined oxidative phosphorylation deficiency caused by mutation in MRPS22	http://purl.obolibrary.org/obo/MONDO_0012718	This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia.	UMLS:C4510567|MESH:C567126|ORPHA:137908|DOID:0111473|http://identifiers.org/omim/611719|SNOMEDCT:724279004|UMLS:C2673642
HGNC:4274	GJA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4274		
MONDO:0012722	Dauwerse-Peters syndrome	biolink:Disease	mondo	UMLS:C2673203|GARD:0010568|MESH:C567093|OMIM:611733	gard_rare	short stature, Facial Dysmorphism, Severe brachydactyly, and syndactyly|short stature, facial dysmorphism, severe brachydactyly and syndactyly|Dauwerse-Peters syndrome	http://purl.obolibrary.org/obo/MONDO_0012722		http://identifiers.org/omim/611733|UMLS:C2673203|MESH:C567093
MONDO:0012723	Leber congenital amaurosis 10	biolink:Disease	mondo	MESH:C565720|DOID:0110291|GARD:0010487|OMIM:611755|ICD10:H35.5	gard_rare	amaurosis congenita of Leber, type 10|CEP290 Leber congenital amaurosis|Leber congenital amaurosis type 10|Leber congenital amaurosis 10; LCA10|LCA10|Leber congenital amaurosis caused by mutation in CEP290|Leber congenital amaurosis 10	http://purl.obolibrary.org/obo/MONDO_0012723	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CEP290 gene.	http://identifiers.org/omim/611755|DOID:0110291|MESH:C565720
MONDO:0012720	Krabbe disease, atypical, due to saposin A deficiency	biolink:Disease	mondo	GARD:0010289|MESH:C567097|UMLS:C2673266|OMIM:611722	gard_rare	saposin A deficiency|Krabbe disease, atypical, due to saposin A deficiency|Krabbe disease, atypical due to saposin A deficiency	http://purl.obolibrary.org/obo/MONDO_0012720		http://identifiers.org/omim/611722|UMLS:C2673266|MESH:C567097
MONDO:0012721	progressive myoclonic epilepsy type 3	biolink:Disease	mondo	ICD10:G40.3|GARD:0002167|OMIM:611726|DOID:0111446|Orphanet:263516|MESH:C567095|UMLS:C2673257	ordo_disease|gard_rare	EPM3|EPM 3|ceroid lipofuscinosis, neuronal, 14|progressive myoclonic epilepsy 3|KCTD7 progressive myoclonic epilepsy|epilepsy, progressive myoclonic, 3, with or without intracellular inclusions|epilepsy progressive myoclonic type 3|PME type 3|epilepsy, progressive myoclonic, 3, with or without intracellular inclusions; EPM3|progressive myoclonic epilepsy due to KCTD7 deficiency|progressive myoclonic epilepsy caused by mutation in KCTD7|progressive myoclonus epilepsy type 3	http://purl.obolibrary.org/obo/MONDO_0012721	Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene.	DOID:0111446|http://identifiers.org/omim/611726|UMLS:C2673257|ORPHA:263516|MESH:C567095
GO:0051173	positive regulation of nitrogen compound metabolic process	biolink:OntologyClass	mondo			upregulation of nitrogen metabolic process|positive regulation of nitrogen metabolic process|up regulation of nitrogen metabolic process|positive regulation of nitrogen metabolism|stimulation of nitrogen metabolic process|up-regulation of nitrogen metabolic process|activation of nitrogen metabolic process	http://purl.obolibrary.org/obo/GO_0051173	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds.	
MONDO:0000726	idiopathic scoliosis	biolink:Disease	mondo	SCTID:203639008|UMLS:CN241052|DOID:0060250			http://purl.obolibrary.org/obo/MONDO_0000726	A scoliosis with no known cause.	UMLS:CN241052|SNOMEDCT:203639008|DOID:0060250
GO:0051174	regulation of phosphorus metabolic process	biolink:OntologyClass	mondo			regulation of phosphorus metabolism	http://purl.obolibrary.org/obo/GO_0051174	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus.	
MONDO:0000725	obsolete Simpson-Golabi-Behmel syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000725		
MONDO:0000724	specific language impairment	biolink:Disease	mondo	UMLS:C0454651|DOID:0060244|OMIMPS:606711		language impairment (disease)	http://purl.obolibrary.org/obo/MONDO_0000724	A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors.	UMLS:C0454651|DOID:0060244
GO:0051171	regulation of nitrogen compound metabolic process	biolink:OntologyClass	mondo			regulation of nitrogen metabolic process|regulation of nitrogen metabolism	http://purl.obolibrary.org/obo/GO_0051171	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds.	
MONDO:0000723	stutter disorder	biolink:Disease	mondo	OMIMPS:184450|NCIT:C35043|DOID:0060243|ICD10:F80.81		stammering|stuttering, familial persistent|stuttering|stutter|familial persistent stuttering	http://purl.obolibrary.org/obo/MONDO_0000723	A speech disorder characterized by frequent sound or syllable repetitions, sound prolongations, or other dysfluencies that are inappropriate for the individual's age.	NCIT:C35043|DOID:0060243
GO:0051172	negative regulation of nitrogen compound metabolic process	biolink:OntologyClass	mondo			downregulation of nitrogen metabolic process|negative regulation of nitrogen metabolism|down regulation of nitrogen metabolic process|inhibition of nitrogen metabolic process|down-regulation of nitrogen metabolic process|negative regulation of nitrogen metabolic process	http://purl.obolibrary.org/obo/GO_0051172	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds.	
MONDO:0000729	obsolete congenital ptosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000729		
HGNC:4279	GJA5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4279		
MONDO:0000728	ptosis (disease)	biolink:Disease	mondo	ICD10:H02.40|UMLS:C0033377|ICD10:H02.4|HP:0000508|MESH:D001763|ICD9:374.3|ICD9:374.30|ICD10:H02.409|NCIT:C27298|UMLS:C0005745|DOID:0060260|SCTID:11934000		blepharoptosis|eyelid ptosis|ptosis|drooping eyelid	http://purl.obolibrary.org/obo/MONDO_0000728	The drooping of the upper eyelid.	UMLS:C0033377|MESH:D001763|SNOMEDCT:11934000|NCIT:C27298|DOID:0060260|UMLS:C0005745
GO:0051175	negative regulation of sulfur metabolic process	biolink:OntologyClass	mondo			inhibition of sulfur metabolic process|down-regulation of sulfur metabolic process|negative regulation of sulphur metabolism|negative regulation of sulphur metabolic process|negative regulation of sulfur metabolism|downregulation of sulfur metabolic process|down regulation of sulfur metabolic process	http://purl.obolibrary.org/obo/GO_0051175	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving sulfur or compounds containing sulfur.	
UBERON:0008367	breast epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0008367	An epithelium that is part of a breast.	
MONDO:0000727	scapuloperoneal myopathy	biolink:Disease	mondo	UMLS:C2931268|MESH:C536624|DOID:0060253		scapuloperoneal syndrome, myopathic type|myopathy, scapuloperoneal	http://purl.obolibrary.org/obo/MONDO_0000727	A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm.	MESH:C536624|DOID:0060253|UMLS:C2931268
GO:0051176	positive regulation of sulfur metabolic process	biolink:OntologyClass	mondo			upregulation of sulfur metabolic process|positive regulation of sulphur metabolic process|positive regulation of sulfur metabolism|positive regulation of sulphur metabolism|up regulation of sulfur metabolic process|stimulation of sulfur metabolic process|up-regulation of sulfur metabolic process|activation of sulfur metabolic process	http://purl.obolibrary.org/obo/GO_0051176	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving sulfur or compounds containing sulfur.	
HGNC:4277	GJA3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4277		
MONDO:0000740	adenoid hypertrophy	biolink:Disease	mondo	DOID:0060311|UMLS:C0149825|ICD10:J35.2|ICD9:474.12|SCTID:111591002|MedDRA:10001229		enlarged adenoids|adenoidal hypertrophy	http://purl.obolibrary.org/obo/MONDO_0000740	An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing.	SNOMEDCT:111591002|DOID:0060311|UMLS:C0149825
NCBITaxon:4447	Liliopsida	organism taxon	mondo	PMID:25249442|GC_ID:1		monocots|monocots|monocotyledons|Monocotyledoneae	http://purl.obolibrary.org/obo/NCBITaxon_4447		
MONDO:0000744	lung abscess (disease)	biolink:Disease	mondo	ICD10:J85.2|UMLS:C0024110|SCTID:73452002|EFO:1001362|ICD9:513.0|MESH:D008169|COHD:257010|DOID:0060317|HP:0025044|NCIT:C99090		lung abscess	http://purl.obolibrary.org/obo/MONDO_0000744	A bacterial, fungal or parasitic abscess that develops in the lung parenchyma. Causes include aspiration pneumonia, necrotizing pneumonia, necrotizing malignant tumors, and Wegener's granulomatosis.	SNOMEDCT:73452002|MESH:D008169|UMLS:C0024110|NCIT:C99090|DOID:0060317
NCBITaxon:89940	Cladophialophora bantiana	organism taxon	mondo	GC_ID:1		Cladosporium bantianum|Xylohypha bantiana|Cladosporium trichoides	http://purl.obolibrary.org/obo/NCBITaxon_89940		
MONDO:0000743	oral hairy leukoplakia	biolink:Disease	mondo	UMLS:C0206186|NCIT:C3722|MESH:D017733|SCTID:414952002|ICD10:K13.3|DOID:0060315|ICD9:528.6		mouth hairy leukoplakia|hairy leukoplakia of the mouth|hairy leukoplakia of mouth|hairy leukoplakia of the oral mucosa|hairy leukoplakia of oral mucosa|hairy leukoplakia|oral hairy keratosis|oral cavity hairy leukoplakia	http://purl.obolibrary.org/obo/MONDO_0000743	An epithelial hyperplasia of the oral cavity mucosa associated with Epstein-Barr virus and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy.	UMLS:C0206186|SNOMEDCT:414952002|DOID:0060315|MESH:D017733|NCIT:C3722
MONDO:0000742	obsolete persistent generalized lymphadenopathy	biolink:Disease	mondo	SCTID:95892003|DOID:0060314		PGL	http://purl.obolibrary.org/obo/MONDO_0000742		DOID:0060314|SNOMEDCT:95892003
MONDO:0000741	angular cheilitis	biolink:Disease	mondo	DOID:0060312|UMLS:C0221237|ICD10:K13.0|SCTID:16459000|UMLS:C0221264|NCIT:C112198		cheilitis of angle of oral opening|angular stomatitis|angular cheilosis|angle of oral opening cheilitis|commissural cheilitis|cheilosis|angular cheilitis|perleche|perlèche	http://purl.obolibrary.org/obo/MONDO_0000741	Inflammation of the skin at the corners of the mouth characterized by redness, fissures or crusts.	UMLS:C0221237|UMLS:C0221264|DOID:0060312|NCIT:C112198|SNOMEDCT:16459000
MONDO:0012704	dilated cardiomyopathy 1X	biolink:Disease	mondo	OMIM:611615|MESH:C566907|DOID:0110444|ICD10:I42.0|UMLS:C1969024		cardiomyopathy, dilated, type 1X|cardiomyopathy, dilated, 1X|cardiomyopathy, dilated, 1X; CMD1X|familial isolated dilated cardiomyopathy caused by mutation in FKTN|FKTN familial isolated dilated cardiomyopathy|dilated cardiomyopathy with mild or no proximal muscle weakness|cardiomyopathy, dilated, with mild or No proximal muscle weakness|dilated cardiomyopathy type 1X|CMD1X	http://purl.obolibrary.org/obo/MONDO_0012704	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene.	http://identifiers.org/omim/611615|MESH:C566907|DOID:0110444|UMLS:C1969024
MONDO:0012705	familial temporal lobe epilepsy 3	biolink:Disease	mondo	MESH:C566903|OMIM:611630|DOID:0060750|UMLS:C1968848		familial temporal lobe epilepsy type 3|FMTLE|epilepsy, familial mesial temporal lobe|ETL3|familial mesial temporal lobe epilepsy|epilepsy, familial temporal lobe, 3; ETL3|epilepsy, familial temporal lobe, 3	http://purl.obolibrary.org/obo/MONDO_0012705		UMLS:C1968848|http://identifiers.org/omim/611630|MESH:C566903|DOID:0060750
HP:0001913	Granulocytopenia	biolink:PhenotypicFeature	mondo	MSH:D000380|SNOMEDCT_US:417672002|SNOMEDCT_US:17182001|UMLS:C0001824			http://purl.obolibrary.org/obo/HP_0001913	An abnormally reduced number of granulocytes in the blood.	
NCBITaxon:63330	Hendra henipavirus	organism taxon	mondo	GC_ID:1|PMID:7701348		Hendra virus|Equine morbillivirus	http://purl.obolibrary.org/obo/NCBITaxon_63330		
MONDO:0012702	CELIAC6	biolink:Disease	mondo	OMIM:611598	predisposition	celiac disease, susceptibility to, 6|celiac disease, susceptibility to, 6; CELIAC6|CELIAC6|gluten-sensitive enteropathy, susceptibility to, 6|autoimmune disease, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0012702		http://identifiers.org/omim/611598
HP:0001911	Abnormal granulocyte morphology	biolink:PhenotypicFeature	mondo	UMLS:C0427515|SNOMEDCT_US:250274006		Abnormality of granulocytes	http://purl.obolibrary.org/obo/HP_0001911	Any structural abnormality or abnormal count of granulocytes.	
MONDO:0012703	lissencephaly due to TUBA1A mutation	biolink:Disease	mondo	Orphanet:171680|UMLS:CN200289|NCIT:C148461|ICD10:Q04.3|MESH:C566908|OMIM:611603	ordo_malformation_syndrome	lissencephaly 3; LIS3|lissencephaly 3|LIS3|lissencephaly type 3	http://purl.obolibrary.org/obo/MONDO_0012703	Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.	ORPHA:171680|NCIT:C148461|UMLS:CN200289|http://identifiers.org/omim/611603|MESH:C566908
MONDO:0012708	PLSA1	biolink:Disease	mondo	OMIM:611637|MESH:C566900		PLSA1|primary lateral sclerosis, ADULT, 1|Pls, adult|primary lateral sclerosis, ADULT, 1; PLSA1	http://purl.obolibrary.org/obo/MONDO_0012708		http://identifiers.org/omim/611637|MESH:C566900
MONDO:0012709	microphthalmia, isolated, with coloboma 5	biolink:Disease	mondo	OMIM:611638|MESH:C566899|UMLS:C1968843		microphthalmia, isolated, with coloboma type 5|microphthalmia, isolated, with coloboma 5; MCOPCB5|SHH microphthalmia, isolated, with coloboma|microphthalmia, isolated, with coloboma 5|Shh microphthalmia, isolated, with coloboma|MCOPCB5|microphthalmia, isolated, with coloboma caused by mutation in Shh|microphthalmia, isolated, with coloboma caused by mutation in SHH	http://purl.obolibrary.org/obo/MONDO_0012709	Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH gene.	UMLS:C1968843|MESH:C566899|http://identifiers.org/omim/611638
MONDO:0012706	familial temporal lobe epilepsy 4	biolink:Disease	mondo	UMLS:C1968847|OMIM:611631|MESH:C566902|DOID:0060753		ETL4|EPOLM|epilepsy, familial temporal lobe, 4; ETL4|epilepsy, familial temporal lobe, 4|familial temporal lobe epilepsy type 4|epilepsy, occipitotemporal lobe, and migraine with aura|occipitotemporal lobe epilepsy and migraine with aura	http://purl.obolibrary.org/obo/MONDO_0012706	A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has material basis in variation in the chromosome region 9q21-q22.	UMLS:C1968847|http://identifiers.org/omim/611631|MESH:C566902|DOID:0060753
MONDO:0012707	familial febrile seizures 9	biolink:Disease	mondo	MESH:C566901|UMLS:C1968846|OMIM:611634|DOID:0111303		febrile seizures, familial, 9; FEB9|febrile seizures, familial, 9|FEB9|febrile convulsions, familial, 9	http://purl.obolibrary.org/obo/MONDO_0012707		UMLS:C1968846|DOID:0111303|http://identifiers.org/omim/611634|MESH:C566901
HGNC:4286	GJB4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4286		
UBERON:0011997	coelom	biolink:AnatomicalEntity	mondo			enterocoelom|schizocoelom|coelomic cavity|coelem|haemocoelom	http://purl.obolibrary.org/obo/UBERON_0011997	The aggregate of the coelemic cavity lumen plus the membranes that line the lumen.	
HGNC:4285	GJB3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4285		
HGNC:4284	GJB2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4284		
MONDO:0012711	peripapillary atrophy, beta type	biolink:Disease	mondo	MESH:C566898|UMLS:C1968838|OMIM:611650		peripapillary atrophy, BETA type; PPAB|Beta-PPA|peripapillary atrophy, beta type|peripapillary chorioretinal atrophy, Beta type|PPAB	http://purl.obolibrary.org/obo/MONDO_0012711		MESH:C566898|http://identifiers.org/omim/611650|UMLS:C1968838
GO:0051180	vitamin transport	biolink:OntologyClass	mondo			vitamin or cofactor transport	http://purl.obolibrary.org/obo/GO_0051180	The directed movement of vitamins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A vitamin is one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body.	
HGNC:4283	GJB1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4283		
GO:0051181	obsolete cofactor transport	biolink:OntologyClass	mondo			vitamin or cofactor transport	http://purl.obolibrary.org/obo/GO_0051181	OBSOLETE. The directed movement of a cofactor into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A cofactor is a substance that is required for the activity of an enzyme or other protein.	
MONDO:0012712	DYTCA	biolink:Disease	mondo	UMLS:C2673697|OMIM:611694|MESH:C567131		dystonia with cerebellar atrophy; DYTCA|DYTCA|dystonia with cerebellar atrophy	http://purl.obolibrary.org/obo/MONDO_0012712		MESH:C567131|http://identifiers.org/omim/611694|UMLS:C2673697
HGNC:4281	GJA8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4281		
MONDO:0012710	HSCR9	biolink:Disease	mondo	OMIM:611644	predisposition	HSCR9|Hirschsprung disease, susceptibility to, 9; HSCR9|Hirschsprung disease, susceptibility to, 9	http://purl.obolibrary.org/obo/MONDO_0012710		http://identifiers.org/omim/611644
MONDO:0000737	obsolete megalocornea	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000737		
MONDO:0000736	dyschromatosis universalis hereditaria	biolink:Disease	mondo	Orphanet:241|DOID:0060304|GARD:0001996|OMIMPS:127500|SCTID:239082002|UMLS:C2930995|ICD10:L81.8|UMLS:C1306229|MESH:C535730	gard_rare|ordo_disease	DUH|dyschromatosis universalis	http://purl.obolibrary.org/obo/MONDO_0000736	A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution.	UMLS:C2930995|ORPHA:241|MESH:C535730|DOID:0060304|SNOMEDCT:239082002|UMLS:C1306229
NCBITaxon:1262365	Tabanoidea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1262365		
MONDO:0000735	obsolete oculodentodigital dysplasia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000735		
MONDO:0000734	Ohdo syndrome and variants	biolink:Disease	mondo	DOID:0060289		Ohdo blepharophimosis syndrome|Ohdo syndrome	http://purl.obolibrary.org/obo/MONDO_0000734		DOID:0060289
GO:0051188	obsolete cofactor biosynthetic process	biolink:OntologyClass	mondo			cofactor anabolism|cofactor biosynthesis|cofactor synthesis|cofactor formation	http://purl.obolibrary.org/obo/GO_0051188	OBSOLETE. The chemical reactions and pathways resulting in the formation of a cofactor, a substance that is required for the activity of an enzyme or other protein.	
MONDO:0000739	uvulitis	biolink:Disease	mondo	UMLS:C0042174|ICD9:528.3|DOID:0060310|ICD10:K12.2|NCIT:C128385|SCTID:300932000|MedDRA:10051962		palatine uvula inflammation|inflammation of palatine uvula|acute uvulitis	http://purl.obolibrary.org/obo/MONDO_0000739	Inflammation of the uvula.	UMLS:C0042174|NCIT:C128385|DOID:0060310|SNOMEDCT:300932000
GO:0051186	obsolete cofactor metabolic process	biolink:OntologyClass	mondo			cofactor metabolism	http://purl.obolibrary.org/obo/GO_0051186	OBSOLETE. The chemical reactions and pathways involving a cofactor, a substance that is required for the activity of an enzyme or other protein. Cofactors may be inorganic, such as the metal atoms zinc, iron, and copper in certain forms, or organic, in which case they are referred to as coenzymes. Cofactors may either be bound tightly to active sites or bind loosely with the substrate.	
HGNC:4289	GK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4289		
MONDO:0000738	obsolete syndromic X-linked intellectual disability	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000738		
HGNC:4288	GJB6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4288		
CHEBI:38092	cardenolide glycoside	biolink:ChemicalSubstance	mondo			5alpha-cardenolide glycoside|5beta-cardenolide glycoside	http://purl.obolibrary.org/obo/CHEBI_38092	Any member of the class of cardenolides with glycosyl residues attached to position 3.	
GO:0016746	transferase activity, transferring acyl groups	biolink:OntologyClass	mondo			acyltransferase activity	http://purl.obolibrary.org/obo/GO_0016746	Catalysis of the transfer of an acyl group from one compound (donor) to another (acceptor).	
GO:0016747	transferase activity, transferring acyl groups other than amino-acyl groups	biolink:OntologyClass	mondo			transferase activity, transferring groups other than amino-acyl groups	http://purl.obolibrary.org/obo/GO_0016747	Catalysis of the transfer of an acyl group, other than amino-acyl, from one compound (donor) to another (acceptor).	
CHEBI:51061	hormone receptor modulator	biolink:ChemicalSubstance	mondo			hormone receptor modulators	http://purl.obolibrary.org/obo/CHEBI_51061	A drug that modulates the function of the endocrine glands, the biosynthesis of their secreted hormones, or the action of hormones upon their specific sites.	
GO:0016741	transferase activity, transferring one-carbon groups	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016741	Catalysis of the transfer of a one-carbon group from one compound (donor) to another (acceptor).	
GO:0016740	transferase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016740	Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2.	
GO:0004773	steryl-sulfatase activity	biolink:OntologyClass	mondo			steroid 3-sulfatase activity|steryl-sulphatase activity|dehydroepiandrosterone sulfatase activity|phenolic steroid sulfatase activity|3-beta-hydroxysteroid sulfate sulfatase activity|steryl-sulfate sulfohydrolase activity|pregnenolone sulfatase activity|dehydroepiandrosterone sulfate sulfatase activity|sterol sulfatase activity|steroid sulfatase activity|steroid sulfate sulfohydrolase activity|arylsulfatase C activity	http://purl.obolibrary.org/obo/GO_0004773	Catalysis of the reaction: 3-beta-hydroxyandrost-5-en-17-one 3-sulfate + H2O = 3-beta-hydroxyandrost-5-en-17-one + sulfate.	
GO:0016757	transferase activity, transferring glycosyl groups	biolink:OntologyClass	mondo			transglycosidase activity|glycosyltransferase activity|transglycosylase activity|transferase activity, transferring other glycosyl groups	http://purl.obolibrary.org/obo/GO_0016757	Catalysis of the transfer of a glycosyl group from one compound (donor) to another (acceptor).	
GO:0016755	transferase activity, transferring amino-acyl groups	biolink:OntologyClass	mondo			aminoacyltransferase activity	http://purl.obolibrary.org/obo/GO_0016755	Catalysis of the transfer of an amino-acyl group from one compound (donor) to another (acceptor).	
CHEBI:38099	thiadiazoles	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_38099		
NCBITaxon:4479	Poaceae	organism taxon	mondo	GC_ID:1		grass family|Bambusaceae|Gramineae	http://purl.obolibrary.org/obo/NCBITaxon_4479		
GO:0004743	pyruvate kinase activity	biolink:OntologyClass	mondo			phosphoenol transphosphorylase activity|ATP:pyruvate 2-O-phosphotransferase activity|phosphoenolpyruvate kinase activity	http://purl.obolibrary.org/obo/GO_0004743	Catalysis of the reaction: = ADP + H(+) + phosphoenolpyruvate => ATP + pyruvate.	
CHEBI:38070	anti-arrhythmia drug	biolink:ChemicalSubstance	mondo			anti-arrhythmia agent|antiarrhythmic agent	http://purl.obolibrary.org/obo/CHEBI_38070	A drug used for the treatment or prevention of cardiac arrhythmias. Anti-arrhythmia drugs may affect the polarisation-repolarisation phase of the action potential, its excitability or refractoriness, or impulse conduction or membrane responsiveness within cardiac fibres.	
ENVO:01001429	land conversion process	biolink:OntologyClass	mondo			land conversion|land development	http://purl.obolibrary.org/obo/ENVO_01001429	An anthropisation process during which terrestrial environments - natural or anthropised - or parts thereof are altered to facilitate human activities such as agriculture, settlement, or commerce.	
HGNC:6814	MAGEL2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6814		
GO:0004749	ribose phosphate diphosphokinase activity	biolink:OntologyClass	mondo			ATP:D-ribose-5-phosphate diphosphotransferase activity|ribose-phosphate diphosphokinase activity|ribophosphate pyrophosphokinase activity|PPRibP synthetase activity|PP-ribose P synthetase activity|phosphoribosyl-diphosphate synthetase activity|phosphoribosylpyrophosphate synthase activity|PRPP synthetase activity|pyrophosphoribosylphosphate synthetase activity|phosphoribosylpyrophosphate synthetase activity|ribose-5-phosphate pyrophosphokinase activity|phosphoribosyl diphosphate synthetase activity|phosphoribosyl pyrophosphate synthetase activity|5-phosphoribosyl-alpha-1-pyrophosphate synthetase activity|5-phosphoribosyl-1-pyrophosphate synthetase activity|ribose-phosphate pyrophosphokinase activity|5-phosphoribose pyrophosphorylase activity	http://purl.obolibrary.org/obo/GO_0004749	Catalysis of the reaction: D-ribose 5-phosphate + ATP = 5-phospho-alpha-D-ribose 1-diphosphate + AMP + 2 H(+).	
GO:0004758	serine C-palmitoyltransferase activity	biolink:OntologyClass	mondo			serine palmitoyltransferase|acyl-CoA:serine C-2 acyltransferase decarboxylating|SPT|3-oxosphinganine synthetase activity|palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity	http://purl.obolibrary.org/obo/GO_0004758	Catalysis of the reaction: L-serine + H(+) + palmitoyl-CoA = 3-dehydrosphinganine + CO(2) + CoA.	
GO:0004757	sepiapterin reductase activity	biolink:OntologyClass	mondo			7,8-dihydrobiopterin:NADP+ oxidoreductase activity	http://purl.obolibrary.org/obo/GO_0004757	Catalysis of the reaction: 7,8-dihydrobiopterin + NADP+ = sepiapterin + NADPH + H+.	
CHEBI:51039	dopamine uptake inhibitor	biolink:ChemicalSubstance	mondo			dopamine uptake inhibitors|DARI|dopamine reuptake inhibitors|dopamine reuptake inhibitor|DRI	http://purl.obolibrary.org/obo/CHEBI_51039	A dopaminergic agent that blocks the transport of dopamine into axon terminals or into storage vesicles within terminals. Most of the adrenergic uptake inhibitors also inhibit dopamine uptake.	
HGNC:6816	MAK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6816		
HGNC:6819	MALT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6819		
HGNC:6823	MAN1B1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6823		
CHEBI:38077	polypyrrole	biolink:ChemicalSubstance	mondo			polypyrroles|poly(pyrrole)s|PPys	http://purl.obolibrary.org/obo/CHEBI_38077	A compound composed of two or more pyrrole units.	
PATO:0015023	decreased combustibility	biolink:OntologyClass	mondo			noncombustible	http://purl.obolibrary.org/obo/PATO_0015023	An decrease in combustibility.	
PATO:0015024	increased porosity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0015024	An increase in porosity.	
PATO:0015021	combustibility	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0015021	The propensity of a material to undergo combustion. Combustion encompasses smouldering and flaming combustion. Combustibility is usually applied to solids.	
PATO:0015022	increased combustibility	biolink:OntologyClass	mondo			combustible	http://purl.obolibrary.org/obo/PATO_0015022	An increase in combustibility.	
PATO:0015025	decreased porosity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0015025	An decrease in porosity.	
HGNC:6826	MAN2B1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6826		
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	biolink:OntologyClass	mondo			oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, miscellaneous	http://purl.obolibrary.org/obo/GO_0016705	Catalysis of an oxidation-reduction (redox) reaction in which hydrogen or electrons are transferred from each of two donors, and molecular oxygen is reduced or incorporated into a donor.	
UBERON:0008424	inguinal mammary gland	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0008424	A mammary gland that is part of a inguinal part of abdomen.	
UBERON:0008425	mammary ridge	biolink:AnatomicalEntity	mondo			mammary fold|mammary line|milk line|mammary gland ridge	http://purl.obolibrary.org/obo/UBERON_0008425	A ridge of epidermal cells that will form the mammary placodes.	
HGNC:6831	MANBA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6831		
HGNC:6833	MAOA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6833		
UBERON:0008429	cervical vertebral foramen	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0008429	A vertebral foramen that is part of a cervical vertebra.	
NCBITaxon:715962	dothideomyceta	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_715962		
UBERON:0008420	buccal epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0008420	An epithelium that is part of a buccal mucosa.	
CHEBI:26078	phosphoric acid	biolink:ChemicalSubstance	mondo			H3PO4|Phosphorsaeure|acide phosphorique|acidum phosphoricum|orthophosphoric acid|trihydroxidooxidophosphorus|Orthophosphoric acid|trihydrogen tetraoxophosphate(3-)|phosphoric acid|Phosphoric acid|Phosphorsaeureloesungen|Phosphate|tetraoxophosphoric acid|[PO(OH)3]	http://purl.obolibrary.org/obo/CHEBI_26078	A phosphorus oxoacid that consists of one oxo and three hydroxy groups joined covalently to a central phosphorus atom.	
CHEBI:26079	phosphoric acid derivative	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_26079		
GO:0016712	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	biolink:OntologyClass	mondo			microsomal p450 activity|microsomal monooxygenase activity|flavoprotein monooxygenase activity|substrate,reduced-flavoprotein:oxygen oxidoreductase (RH-hydroxylating or -epoxidizing)|aryl hydrocarbon hydroxylase activity|cytochrome P450 CYP19|aryl-4-monooxygenase activity|xenobiotic monooxygenase activity|microsomal P-450|flavoprotein-linked monooxygenase activity|cytochrome p450 activity|unspecific monooxygenase activity	http://purl.obolibrary.org/obo/GO_0016712	Catalysis of an oxidation-reduction (redox) reaction in which hydrogen or electrons are transferred from reduced flavin or flavoprotein and one other donor, and one atom of oxygen is incorporated into one donor.	
HGNC:6840	MAP2K1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6840		
CHEBI:26082	phosphorus molecular entity	biolink:ChemicalSubstance	mondo			phosphorus molecular entities	http://purl.obolibrary.org/obo/CHEBI_26082		
HGNC:6842	MAP2K2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6842		
GO:0004737	pyruvate decarboxylase activity	biolink:OntologyClass	mondo			pyruvic decarboxylase activity|2-oxo-acid carboxy-lyase (aldehyde-forming)|alpha-carboxylase activity|2-oxo-acid carboxy-lyase activity|alpha-ketoacid carboxylase activity	http://purl.obolibrary.org/obo/GO_0004737	Catalysis of the reaction: a 2-oxo acid = an aldehyde + CO2.	
HGNC:6848	MAP3K1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6848		
UBERON:0008404	proximal tubular epithelium	biolink:AnatomicalEntity	mondo			proximal tubule epithelium|epithelium of proximal renal tubule|proximal renal tubule epithelium|epithelium of proximal convoluted tubule|proximale tubular epithelium	http://purl.obolibrary.org/obo/UBERON_0008404	The cells lining the proximal tubule are cuboidal epithelial cells with deep basal membrane invaginations that provide a large basal surface area. The long microvilli (the brush border) lining the tubule lumen, maximize luminal surface area and make these cells ideally suited for both reabsorptive and secretory functions.	
HGNC:6853	MAP3K14	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6853		
UBERON:0008408	distal tubular epithelium	biolink:AnatomicalEntity	mondo			distal tubule epithelium	http://purl.obolibrary.org/obo/UBERON_0008408	An epithelium that is part of a distal tubule.	
HGNC:6859	MAP3K7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6859		
NCBITaxon:715989	sordariomyceta	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_715989		
GO:1905516	positive regulation of fertilization	biolink:OntologyClass	mondo			up-regulation of fertilization|up-regulation of syngamy|up regulation of fertilization|up regulation of syngamy|activation of fertilization|activation of syngamy|positive regulation of syngamy|upregulation of fertilization|upregulation of syngamy	http://purl.obolibrary.org/obo/GO_1905516	Any process that activates or increases the frequency, rate or extent of fertilization.	
CHEBI:38032	carbotricyclic compound	biolink:ChemicalSubstance	mondo			carbotricyclic compounds	http://purl.obolibrary.org/obo/CHEBI_38032	A carbopolyclic compound comprising of three carbocyclic rings.	
HGNC:4206	OPN1MW	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4206		
HGNC:4204	GCNT2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4204		
GO:0051100	negative regulation of binding	biolink:OntologyClass	mondo			down-regulation of binding|down regulation of binding|inhibition of binding|downregulation of binding	http://purl.obolibrary.org/obo/GO_0051100	Any process that stops or reduces the rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule.	
GO:0051101	regulation of DNA binding	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0051101	Any process that modulates the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid).	
HGNC:6860	MAP3K8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6860		
GO:0002184	cytoplasmic translational termination	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002184	The process resulting in the release of a polypeptide chain from the ribosome in the cytoplasm, usually in response to a termination codon.	
MONDO:0022180	chromosome 16 trisomy	biolink:Disease	mondo	NCIT:C37866|GARD:0007060	gard_rare	trisomy 16|trisomy chromosome 16|mosaic trisomy 16	http://purl.obolibrary.org/obo/MONDO_0022180		NCIT:C37866
GO:0099094	ligand-gated cation channel activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0099094	Enables the transmembrane transfer of an inorganic cation by a channel that opens when a specific ligand has been bound by the channel complex or one of its constituent parts.	
GO:0002181	cytoplasmic translation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002181	The chemical reactions and pathways resulting in the formation of a protein in the cytoplasm. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein.	
GO:0002182	cytoplasmic translational elongation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002182	The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis in the cytoplasm.	
GO:0002183	cytoplasmic translational initiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002183	The process preceding formation of the peptide bond between the first two amino acids of a protein in the cytoplasm. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA.	
ENVO:01001483	surface of an astronomical body	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001483	A surface layer where the solid or liquid material of an astronomical body comes into contact with an atmosphere or outer space.	
MONDO:0022177	chromosome 13q trisomy	biolink:Disease	mondo	UMLS:C0795849|MESH:C535485		trisomy 13q|Duplication 13q	http://purl.obolibrary.org/obo/MONDO_0022177		MESH:C535485|UMLS:C0795849
MONDO:0022178	chromosome 13q-mosaicism	biolink:Disease	mondo	MESH:C535486|UMLS:CN037259		Mosiacism of chromosome 13q	http://purl.obolibrary.org/obo/MONDO_0022178		MESH:C535486|UMLS:CN037259
ENVO:01001477	liquid astronomical body part	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001477	A part of an astronomical body which is primarily composed of a continuous volume of liquid material, shaped by one or more environmental processes.	
ENVO:01001476	body of liquid	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001476		
ENVO:01001479	fluid astronomical body part	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001479	A part of an astronomical body which is primarily composed of a continuous volume of liquid or gaseous material, shaped by one or more environmental processes.	
ENVO:01001478	gaseous astronomical body part	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001478	A part of an astronomical body which is primarily composed of a continuous volume of gaseous material, shaped by one or more environmental processes.	
MONDO:0022171	chromhidrosis	biolink:Disease	mondo	SCTID:26147006|GARD:0010749|ICD9:705.89|ICD10:L75.1	gard_rare	chromhidrosis|secretion of colored sweat	http://purl.obolibrary.org/obo/MONDO_0022171	A rare condition characterized by the secretion of colored sweat, caused by the deposition of lipofuscin in the sweat glands. Usually chromhidrosis affects the apocrine glands, mainly on the face and underarms.	SNOMEDCT:26147006
MONDO:0022173	chromosome 11q trisomy	biolink:Disease	mondo	MESH:C538297		trisomy 11q|Duplication 11q	http://purl.obolibrary.org/obo/MONDO_0022173		MESH:C538297
MONDO:0022174	chromosome 12p deletion	biolink:Disease	mondo	MESH:C538301|GARD:0006068|UMLS:C0795844|NCIT:C36410	gard_rare	monosomy 12p|loss of chromosome 12p|12p deletion|12p monosomy|12p-|partial monosomy 12p|12p del|del(12p)|deletion 12p	http://purl.obolibrary.org/obo/MONDO_0022174	A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 12.	NCIT:C36410|MESH:C538301|UMLS:C0795844
MONDO:0010198	Wernicke-Korsakoff syndrome	biolink:Disease	mondo	EFO:1001242|SCTID:69482004|OMIM:277730|GARD:0006843|DOID:10915|MedDRA:10047913|NCIT:C35764|MESH:C538669	gard_rare	Wernicke encephalopathy|Korsakoff's psychosis|alcohol-induced encephalopathy|Korsakoff syndrome|Wernicke-Korsakoff syndrome|Korsakov psychosis|Korsakov's psychosis|Korsakoff's syndrome|transketolase defect	http://purl.obolibrary.org/obo/MONDO_0010198	Wernicke-Korsakoff syndrome is a brain disorder, due to thiamine deficiency that has been associated with both Wernicke's encephalopathy and Korsakoff syndrome. The term refers to two different syndromes, each representing a different stage of the disease. Wernicke's encephalopathy represents the 'acute' phase and Korsakoff's syndrome represents the 'chronic' phase. However, they are used interchangeable in many sites. Wernicke's encephalopathy is characterized by confusion, abnormal stance and gait (ataxia), and abnormal eye movements (nystagmus). Korsakoff's syndrome is observed in a small number of patients. It is a type of dementia, characterized by memory loss and confabulation (filling in of memory gaps with data the patient can readily recall) and involvement of the heart, vascular, and nervous system. Wernicke-Korsakoff syndrome mainly results from chronic alcohol use, but also from dietary deficiencies, prolonged vomiting, eating disorders, systemic diseases (cancer, AIDS, infections), bariatric surgery, transplants, or the effects of chemotherapy. Studies indicate that there may be some genetic predisposition for the disease.Treatment involves supplementing the diet with thiamine. Wernicke encephalopathy is an acute syndrome and requires emergency treatment to prevent death and neurologic complications. In cases where the diagnosis is not confirmed, patients should still be treated while additional evaluations are completed.	http://identifiers.org/omim/277730|DOID:10915|MESH:C538669|NCIT:C35764|SNOMEDCT:69482004
MONDO:0010197	whistling face syndrome, recessive form	biolink:Disease	mondo	MESH:C536699|OMIM:277720|UMLS:C1848470|DOID:0111606|GARD:0010024	gard_rare	whistling face syndrome, recessive form	http://purl.obolibrary.org/obo/MONDO_0010197		DOID:0111606|UMLS:C1848470|http://identifiers.org/omim/277720|MESH:C536699
MONDO:0034186	autosomal recessive extra-oral halitosis	biolink:Disease	mondo	Orphanet:562538	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0034186		ORPHA:562538
MONDO:0010199	white forelock with malformations	biolink:Disease	mondo	ICD10:Q87.8|SCTID:763619009|UMLS:C1848463|OMIM:277740|GARD:0010081|MESH:C536700|Orphanet:2475	ordo_malformation_syndrome|gard_rare	white forelock with malformations	http://purl.obolibrary.org/obo/MONDO_0010199	White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980.	SNOMEDCT:763619009|MESH:C536700|UMLS:C1848463|http://identifiers.org/omim/277740|ORPHA:2475
MONDO:0010190	pontocerebellar hypoplasia type 2A	biolink:Disease	mondo	OMIM:277470|DOID:0060267|MESH:C564738|GARD:0003631	gard_rare	PCH2A|Pch2|pontocerebellar hypoplasia type 2 caused by mutation in TSEN54|pontocerebellar hypoplasia, type 2A|microcephaly pontocerebellar hypoplasia dyskinesia|Volendam neurodegenerative disease|pontocerebellar hypoplasia with progressive cerebral atrophy|TSEN54 pontocerebellar hypoplasia type 2|pontocerebellar hypoplasia, type 2A; PCH2A	http://purl.obolibrary.org/obo/MONDO_0010190		http://identifiers.org/omim/277470|DOID:0060267|MESH:C564738
MONDO:0010192	Waardenburg syndrome type 4A	biolink:Disease	mondo	OMIM:277580|DOID:0110953		WS4A|Waardenburg syndrome type IVA|EDNRB Waardenburg syndrome|Waardenburg-Shah syndrome|Shah-Waardenburg syndrome|Ws4|Waardenburg syndrome, type 4A; WS4A|Waardenburg syndrome with Hirschsprung disease type 4A|Waardenburg syndrome caused by mutation in EDNRB|Waardenburg syndrome with Hirschsprung disease, type 4A|Waardenburg syndrome, type 4A	http://purl.obolibrary.org/obo/MONDO_0010192	A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDNRB.	DOID:0110953|http://identifiers.org/omim/277580
MONDO:0010191	von Willebrand disease 3	biolink:Disease	mondo	ICD10:D68.0|MESH:D056729|NCIT:C85213|OMIM:277480|DOID:0111054|Orphanet:166096|UMLS:C1264041|SCTID:128108002	ordo_clinical_subtype	von Willebrand's disease 3|von Willebrand disease type 3|VWD3|Von Willebrand disease, type 3|VWD type 3|von Willebrand's disease type 3|VON WILLEBRAND disease, type 3|von Willebrand disease type III|VWD, type 3|VON WILLEBRAND disease, type 3; VWD3	http://purl.obolibrary.org/obo/MONDO_0010191	Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII).	NCIT:C85213|http://identifiers.org/omim/277480|ORPHA:166096|SNOMEDCT:128108002|MESH:D056729|DOID:0111054|UMLS:C1264041
MONDO:0010194	Weill-Marchesani syndrome 1	biolink:Disease	mondo	OMIM:277600		Weill-Marchesani syndrome, autosomal recessive|mesodermal Dysmorphodystrophy, congenital|Weill-Marchesani syndrome 1|spherophakia-brachymorphia syndrome|Weill-Marchesani syndrome caused by mutation in ADAMTS10|WMS1|Weill-Marchesani syndrome type 1|Weill-Marchesani syndrome 1; WMS1|ADAMTS10 Weill-Marchesani syndrome	http://purl.obolibrary.org/obo/MONDO_0010194	Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene.	http://identifiers.org/omim/277600
MONDO:0010193	Weaver syndrome	biolink:Disease	mondo	OMIM:277590|GTR:AN0102079|ICD9:759.89|GARD:0007878|DOID:14731|NCIT:C125599|MESH:C536687|GTR:AN0102080|UMLS:C0265210|Orphanet:3447|ICD10:Q87.3|UMLS:CN036342|SCTID:63119004	ordo_malformation_syndrome	Weaver syndrome|EZH2 related overgrowth|WEAVER syndrome; WVS|Weaver-like syndrome|WVS|overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly|Weaver Smith syndrome|Weaver-Smith syndrome|camptodactyly-overgrowth-unusual facies syndrome|Weaver like syndrome|Weaver Williams syndrome|Weaver-Williams syndrome|mental retardation, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate|WEAVER-like syndrome|intellectual disability, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate|camptodactyly - overgrowth - unusual facies	http://purl.obolibrary.org/obo/MONDO_0010193	Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.	UMLS:CN036342|NCIT:C125599|SNOMEDCT:63119004|http://identifiers.org/omim/277590|ORPHA:3447|UMLS:C0265210|MESH:C536687|DOID:14731
MONDO:0010196	Werner syndrome	biolink:Disease	mondo	OMIM:277700|NCIT:C3447|MESH:D014898|Orphanet:902|MedDRA:10049429|GARD:0007885|ICD10:E34.8|UMLS:C0043119|SCTID:51626007|DOID:5688|ICD9:259.8	ordo_disease	adult progeria|Werner's syndrome|Werner syndrome|WS|Werner syndrome; WRN|WRN|adult premature ageing syndrome	http://purl.obolibrary.org/obo/MONDO_0010196	Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.	ORPHA:902|http://identifiers.org/omim/277700|SNOMEDCT:51626007|NCIT:C3447|MEDDRA:10049429|UMLS:C0043119|MESH:D014898|DOID:5688
MONDO:0034189	primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome	biolink:Disease	mondo	Orphanet:562639	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0034189		ORPHA:562639
MONDO:0010195	obsolete Weissenbacher-Zweymuller syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0010195		
HGNC:21181	SUMO4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21181		
MONDO:0009189	multiple epiphyseal dysplasia type 4	biolink:Disease	mondo	UMLS:C1847593|MESH:C535504|GARD:0009793|ICD10:Q77.3|DOID:0070300|SCTID:715672007|Orphanet:93307|OMIM:226900	ordo_disease	EDM4|epiphyseal dysplasia, multiple, 4; EDM4|epiphyseal dysplasia, multiple, type 4|multiple epiphyseal dysplasia with clubfoot|multiple epiphyseal dysplasia with double-layered patella|epiphyseal dysplasia, multiple, 4|epiphyseal dysplasia multiple 4|Polyepiphyseal dysplasia type 4|multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2|rMED|MED4|multiple epiphyseal dysplasia with Bilayered patellae|multiple epiphyseal dysplasia 4|multiple epiphyseal dysplasia, autosomal recessive|autosomal recessive multiple epiphyseal dysplasia|SLC26A2 multiple epiphyseal dysplasia (disease)	http://purl.obolibrary.org/obo/MONDO_0009189	Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.	SNOMEDCT:715672007|ORPHA:93307|DOID:0070300|UMLS:C1847593|MESH:C535504|http://identifiers.org/omim/226900
MONDO:0009188	epilepsy-telangiectasia syndrome	biolink:Disease	mondo	OMIM:226850|UMLS:C1856929|MESH:C535497|GARD:0002168|ICD10:G40.8|Orphanet:1951	ordo_disease	epilepsy telangiectasia|epilepsy-telangiectasia|mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency|intellectual disability, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency	http://purl.obolibrary.org/obo/MONDO_0009188	Epilepsy telangiectasia syndrome is characterized by intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait.	ORPHA:1951|UMLS:C1856929|MESH:C535497|http://identifiers.org/omim/226850
MONDO:0010187	vitamin K-dependent clotting factors, combined deficiency of, type 1	biolink:Disease	mondo	ICD10:D68.2|UMLS:C1848534|Orphanet:98434|SCTID:724356003|OMIM:277450|MESH:C564741	prototype_pattern|ordo_disease	FMFD 3|glutamic acid, deficient gamma-carboxylation of|GGCX congenital vitamin K-dependent coagulation factors combined deficiency|vitamin K-dependent coagulation defect|VKCFD1|vitamin K-dependent clotting factors, combined deficiency of, 1|vitamin K-dependent clotting factors, combined deficiency of, type 1|vitamin K-dependent clotting factors, combined deficiency of, 1; VKCFD1|congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in GGCX|Vkcfd|familial multiple coagulation Factor deficiency 3|multiple coagulation Factor deficiency 3|hereditary combined deficiency of factors II, VII, IX and X|factors II, VII, IX, and X, combined deficiency of|hereditary combined deficiency of vitamin K-dependent clotting factors	http://purl.obolibrary.org/obo/MONDO_0010187	Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z.	MESH:C564741|SNOMEDCT:724356003|UMLS:C1848534|http://identifiers.org/omim/277450|ORPHA:98434
MONDO:0009187	celiac disease-epilepsy-cerebral calcification syndrome	biolink:Disease	mondo	GARD:0002166|UMLS:C1856930|Orphanet:1459|MESH:C535496|OMIM:226810	ordo_disease	familial unilateral and bilateral occipital calcifications and epilepsy|CEC|bilateral occipital calcifications with epilepsy|epilepsy occipital calcifications|epilepsy with bilateral occipital calcifications|celiac disease, epilepsy, and cerebral calcification syndrome|celiac disease epilepsy occipital calcifications	http://purl.obolibrary.org/obo/MONDO_0009187	Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications.	ORPHA:1459|UMLS:C1856930|MESH:C535496|http://identifiers.org/omim/226810
MONDO:0010186	vitamin D-dependent rickets, type 2A	biolink:Disease	mondo	SCTID:237894002|NCIT:C131075|UMLS:C0342646|OMIM:277440		vitamin D dependent rickets 2a|rickets, hereditary vitamin D-resistant|rickets-alopecia syndrome|vitamin d-dependent rickets type II with alopecia|VDR vitamin D-dependent rickets, type 2|vitamin D-dependent rickets, type 2A, with or without alopecia|vitamin D-dependent rickets, type 2A; VDDR2A|Pseudovitamin D-deficiency, type 2A|generalized resistance to 1,25-dihydroxyvitamin D|vitamin D-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol|vitamin D-dependent rickets, type 2A|hypocalcemic vitamin D-resistant rickets|vitamin D-dependent rickets, type 2 caused by mutation in VDR|Pddr 2A|vitamin D receptor deficiency rickets|VDDR2A|hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor with alopecia	http://purl.obolibrary.org/obo/MONDO_0010186	Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia.	NCIT:C131075|UMLS:C0342646|SNOMEDCT:237894002|http://identifiers.org/omim/277440
MONDO:0009186	epilepsy, photogenic, with spastic diplegia and mental retardation	biolink:Disease	mondo	OMIM:226800|UMLS:C1856931|MESH:C565587		epilepsy, photogenic, with spastic diplegia and mental retardation|epilepsy, photogenic, with spastic diplegia and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0009186		UMLS:C1856931|MESH:C565587|http://identifiers.org/omim/226800
MONDO:0010189	vitiligo, progressive, with mental retardation and urethral duplication	biolink:Disease	mondo	UMLS:C1848532|MESH:C564739|OMIM:277465		vitiligo, progressive, with intellectual disability and urethral duplication|vitiligo, progressive, with mental retardation and urethral duplication	http://purl.obolibrary.org/obo/MONDO_0010189		MESH:C564739|UMLS:C1848532|http://identifiers.org/omim/277465
MONDO:0009185	amelocerebrohypohidrotic syndrome	biolink:Disease	mondo	OMIM:226750|Orphanet:1946|UMLS:C0406740|DOID:0111668|GARD:0003128|SCTID:109478007|MESH:C537213|ICD10:G40.8	ordo_malformation_syndrome	Kohlschutter-Tonz syndrome|Kohlschutter Tonz syndrome|KOHLSCHUTTER-Tonz syndrome|epilepsy-dementia-amelogenesis imperfecta syndrome|epilepsy and Yellow teeth|KOHLSCHUTTER-Tonz syndrome; KTZS|epilepsy, dementia, and amelogenesis imperfecta|epilepsy dementia amelogenesis imperfecta|Kohlschutter syndrome|KTZS	http://purl.obolibrary.org/obo/MONDO_0009185	Kohlschütter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.	MESH:C537213|UMLS:C0406740|ORPHA:1946|DOID:0111668|http://identifiers.org/omim/226750|SNOMEDCT:109478007
MONDO:0010188	familial isolated deficiency of vitamin E	biolink:Disease	mondo	GARD:0008595|SCTID:702442008|OMIM:277460|ICD10:G11.1|ICD9:334.3|ICD9:269.1|DOID:0090028|MedDRA:10047631|MESH:C535393|Orphanet:96	ordo_disease	vitamin E, familial isolated deficiency OF|Friedreich-like ataxia with selective vitamin E deficiency|Friedreich-like ataxia|AVED|familial isolated vitamin E deficiency|vitamin E, familial isolated deficiency OF; VED|isolated vitamin E deficiency|ataxia with vitamin E deficiency|VED|Friedreich-like ataxia|ataxia, Friedreich-like, with selective vitamin E deficiency|ataxia with isolated vitamin E deficiency|familial isolated deficiency of vitamin type E	http://purl.obolibrary.org/obo/MONDO_0010188	Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.	MEDDRA:10047631|MESH:C535393|DOID:0090028|SNOMEDCT:702442008|UMLS:C1848533|ORPHA:96|http://identifiers.org/omim/277460
MONDO:0009184	epidermolysis bullosa with diaphragmatic hernia	biolink:Disease	mondo	OMIM:226735|MESH:C565588		epidermolysis bullosa with diaphragmatic hernia	http://purl.obolibrary.org/obo/MONDO_0009184		MESH:C565588|http://identifiers.org/omim/226735
MONDO:0009183	junctional epidermolysis bullosa with pyloric atresia	biolink:Disease	mondo	GARD:0009694|Orphanet:79403|DOID:0060733|ICD10:Q81.8|MESH:C535377|OMIM:226730|UMLS:C1856934	gard_rare|ordo_disease	Carmi syndrome|junctional epidermolysis bullosa with pyloric atresia|epidermolysis bullosa, junctional, with pyloric atresia and aplasia cutis congenita|epidermolysis bullosa junctionalis with pyloric atresia|aplasia cutis congenita with gastrointestinal atresia|epidermolysis bullosa JUNCTIONALIS with pyloric atresia|epidermolysis bullosa, junctional, with pyloric atresia|junctional epidermolysis bullosa-pyloric atresia syndrome|JEB-Pa|EB-Pa-ACC|JEB-PA|junctional epidermolysis bullosa - pyloric atresia|epidermolysis bullosa with pyloric atresia	http://purl.obolibrary.org/obo/MONDO_0009183	Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract.	MESH:C535377|UMLS:C1856934|ORPHA:79403|http://identifiers.org/omim/226730|DOID:0060733
MONDO:0009182	junctional epidermolysis bullosa Herlitz type	biolink:Disease	mondo	ICD10:Q81.1|OMIM:226700|Orphanet:79404|SCTID:400140006|GARD:0002153|DOID:0060737	gard_rare|ordo_disease	Herlitz-Pearson-type epidermolysis bullosa|epidermolysis bullosa, junctional, Herlitz-Pearson type|epidermolysis bullosa, junctional, Herlitz type|junctional epidermolysis bullosa, Herlitz-Pearson type|epidermolysis bullosa Junctionalis, Herlitz type|junctional epidermolysis bullosa, generalized severe|epidermolysis bullosa letalis|junctional epidermolysis bullosa, Herlitz type|JEB-Herlitz type|JEB-H|Herlitz type epidermolysis bullosa junctionalis|junctional epidermolysis bullosa generalisata gravis|Herlitz-Pearson type epidermolysis bullosa|JEB, generalized severe	http://purl.obolibrary.org/obo/MONDO_0009182	Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.	http://identifiers.org/omim/226700|ORPHA:79404|DOID:0060737|SNOMEDCT:400140006
MONDO:0009181	epidermolysis bullosa simplex with muscular dystrophy	biolink:Disease	mondo	Orphanet:257|MESH:C535955|GARD:0002137|SCTID:723308003|ICD10:Q81.0|OMIM:226670|UMLS:C2931072|DOID:0090017	ordo_disease|gard_rare	Epidermolysa bullosa simplex and limb girdle muscular dystrophy|epidermolysis bullosa simplex - limb girdle muscular dystrophy|epidermolysis bullosa simplex with muscular dystrophy; EBSMD|Epidermolysa bullosa simplex with muscular dystrophy|limb-girdle muscular dystrophy with epidermolysis bullosa simplex|EBSMD|epidermolysis bullosa simplex with muscular dystrophy|EBS-MD|MD-EBS|epidermolysis bullosa simplex and limb-girdle muscular dystrophy|MDEBS	http://purl.obolibrary.org/obo/MONDO_0009181	Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy.	ORPHA:257|DOID:0090017|http://identifiers.org/omim/226670|UMLS:C2931072|MESH:C535955|SNOMEDCT:723308003
NCBITaxon:740972	Tritrichomonadida	organism taxon	mondo	GC_ID:1|PMID:20093080		Trichomonadida Kirby, 1947, emend. Brugerolle and Patterson, 2001	http://purl.obolibrary.org/obo/NCBITaxon_740972		
NCBITaxon:740973	Dientamoebidae	organism taxon	mondo	GC_ID:1		Protrichomonadinae	http://purl.obolibrary.org/obo/NCBITaxon_740973		
MONDO:0009180	junctional epidermolysis bullosa, non-Herlitz type	biolink:Disease	mondo	ICD9:757.39|OMIM:226650|GARD:0002151|ICD10:Q81.8|SCTID:33662006|Orphanet:89840	ordo_disease	JEB-nH|epidermolysis bullosa Junctionalis, progressive|JEB-I|epidermolysis bullosa, generalized atrophic benign|epidermolysis bullosa Junctionalis, severe Nonlethal|junctional epidermolysis bullosa inversa|epidermolysis bullosa, junctional, non-Herlitz type|JEN-nH|epidermolysis bullosa Junctionalis, Disentis type|epidermolysis bullosa, junctional, Localisata variant|epidermolysis bullosa Junctionalis, non-Herlitz type	http://purl.obolibrary.org/obo/MONDO_0009180	Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia.	SNOMEDCT:33662006|http://identifiers.org/omim/226650|ORPHA:89840
MONDO:0010181	oculogastrointestinal muscular dystrophy	biolink:Disease	mondo	Orphanet:1876|OMIM:277320|SCTID:722060007|GARD:0005496|ICD10:G71.0	ordo_disease	visceral myopathy, familial, with external ophthalmoplegia|visceral myopathy - familial external ophthalmoplegia|familial visceral myopathy with external ophthalmoplegia|visceral myopathy-familial external ophthalmoplegia syndrome|muscular dystrophy, oculogastrointestinal|intestinal pseudoobstruction with external ophthalmoplegia	http://purl.obolibrary.org/obo/MONDO_0010181	Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction.	SNOMEDCT:722060007|UMLS:C1848586|http://identifiers.org/omim/277320|MESH:C536350|ORPHA:1876
MONDO:0010180	autosomal recessive spondylocostal dysostosis	biolink:Disease	mondo	Orphanet:2311|UMLS:CN032975|ICD9:756.9|SCTID:61367005|MESH:C535781|ICD10:Q76.8	ordo_malformation_syndrome	Jarcho-Levin syndrome|spondylocostal dysostosis 1, autosomal recessive|costovertebral dysplasia|spondylocostal dysostosis, autosomal recessive|SCDO1|spondylocostal dysostosis 1, autosomal recessive; SCDO1	http://purl.obolibrary.org/obo/MONDO_0010180	Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.	MESH:C535781|UMLS:C2931020|http://identifiers.org/omim/277300|ORPHA:2311|SNOMEDCT:61367005|UMLS:C0265343|MESH:C537565|UMLS:CN032975
MONDO:0010183	methylmalonic aciduria and homocystinuria type cblF	biolink:Disease	mondo	OMIM:277380|SCTID:80887004|DOID:0050717|MESH:C564747|GARD:0003584|ICD10:E72.1|Orphanet:79284	ordo_clinical_subtype	combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF|vitamin B12 lysosomal release defect|MAHCF|cblF methylmalonic acidemia and homocystinuria|cobalamin, defect in lysosomal release of|lysosomal membrane cobalamin transporter deficiency|vitamin B12 storage disease|methylmalonic aciduria due to vitamin B12-release defect|cobalamin locus f variant|methylmalonic aciduria and homocystinuria, cblF type|cobalamin F deficiency|methylmalonic aciduria and homocystinuria, cblF type; MAHCF|cobalamin F defect|inherited methylmalonic acidemia and homocystinuria|methylmalonic acidemia with homocystinuria type cblF|methylmalonic acidemia and homocystinuria, cblF type|cblF defect|methylmalonic aciduria with homocystinuria, type cblF|cobalamin F disease	http://purl.obolibrary.org/obo/MONDO_0010183	A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner.	ORPHA:79284|MESH:C564747|http://identifiers.org/omim/277380|SNOMEDCT:80887004|DOID:0050717
MONDO:0010182	hypercarotenemia and vitamin A deficiency, autosomal recessive	biolink:Disease	mondo	MESH:C567486|UMLS:C2678266|OMIM:277350		hypercarotenemia and vitamin A deficiency, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0010182		http://identifiers.org/omim/277350|UMLS:C2678266|MESH:C567486
MONDO:0010185	methylmalonic aciduria and homocystinuria type cblD	biolink:Disease	mondo	Orphanet:79283|DOID:0050716|SCTID:31220004|GARD:0003582|ICD10:E72.1|MESH:C564743|UMLS:CN205879|OMIM:277410	ordo_clinical_subtype	methylmalonic acidemia with homocystinuria, type cblD|methylmalonic aciduria, Cblh type|methylmalonic aciduria with homocystinuria, type cblD|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD|homocystinuria, cblD type, variant 1, included|m0e.321 cobalamin locus d variant|methylmalonic acidemia and homocystinuria, cblD type|methylmalonic acidemia with homocystinuria type cblD|cblD methylmalonic acidemia and homocystinuria|cobalamin D deficiency|methylmalonic aciduria and homocystinuria, cblD type; MAHCD|methylmalonic aciduria, cblD type, variant 2|methylmalonic acidemia, Cblh type, formerly|cobalamin D defect|methylmalonic acidemia, Cblh type|cblD - cobalamin locus d|Mehtylmalonic acidemia with homocystinuria cbI d|cblD defect|methylmalonic aciduria, cblD type, variant 2, included|MAHCD|cobalamin d disease|homocystinuria, cblD type, variant 1|methylmalonic aciduria, Cblh type, formerly|methylmalonic aciduria and homocystinuria, cblD type	http://purl.obolibrary.org/obo/MONDO_0010185	A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.	DOID:0050716|ORPHA:79283|MESH:C564743|SNOMEDCT:31220004|UMLS:CN205879|http://identifiers.org/omim/277410
MONDO:0010184	methylmalonic aciduria and homocystinuria type cblC	biolink:Disease	mondo	GARD:0012128|Orphanet:79282|DOID:0050715|SCTID:74653006|ICD10:E72.1|NCIT:C142174|UMLS:CN205878|OMIM:277400	ordo_clinical_subtype	combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC|vitamin B12 metabolic defect with combined deficiency of methylmalonyl-Coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|cblC|methylmalonic acidemia and homocystinuria, cblC type|cobalamin C deficiency|cblC methylmalonic acidemia and homocystinuria|methylmalonic aciduria and homocystinuria cblC|cobalamin C defect|methylmalonic aciduria and homocystinuria, cblC type, digenic|methylmalonic aciduria and homocystinuria, vitamin B12-responsive|cblC defect|methylmalonic aciduria and homocystinuria, cblC type; MAHCC|methylmalonic acidemia and homocystinuria cblC|cobalamin locus c variant|MAHCC|cobalamin c disease|cblC - cobalamin locus c|methylmalonic aciduria and homocystinuria, cblC type|methylmalonic acidemia with homocystinuria type cblC|methylmalonic aciduria with homocystinuria, type cblC|methylmalonic acidemia with homocystinuria, type cblC	http://purl.obolibrary.org/obo/MONDO_0010184	A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner.	DOID:0050715|ORPHA:79282|NCIT:C142174|UMLS:CN205878|http://identifiers.org/omim/277400|SNOMEDCT:74653006
HP:0011220	Prominent forehead	biolink:PhenotypicFeature	mondo	UMLS:C1867446|UMLS:C1837260	hposlim_core	Prominence of frontal region|Prominent forehead|Protruding forehead|Bulging forehead|Pronounced forehead	http://purl.obolibrary.org/obo/HP_0011220	Forward prominence of the entire forehead, due to protrusion of the frontal bone.	
HP:0011226	Aplasia/Hypoplasia of the eyelid	biolink:PhenotypicFeature	mondo	UMLS:C4023453		Failure of development of eyelid|Hypotrophic eyelid	http://purl.obolibrary.org/obo/HP_0011226	Absence or underdevelopment of the eyelid.	
HGNC:21191	DAOA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21191		
GO:0099081	supramolecular polymer	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0099081	A polymeric supramolecular structure.	
MONDO:0022151	Chitty Hall Webb syndrome	biolink:Disease	mondo	UMLS:C2931066|GARD:0001277|MESH:C535929|SCTID:725103004	gard_rare	bowed tibiae, radial anomalies, osteopenia, multiple fractures and developmental delay	http://purl.obolibrary.org/obo/MONDO_0022151		MESH:C535929|UMLS:C2931066|SNOMEDCT:725103004
MONDO:0009199	ethanolaminosis	biolink:Disease	mondo	ICD9:270.8|SCTID:64235006|UMLS:C0268423|MESH:C562651|OMIM:227150		ethanolamine kinase deficiency|ethanolaminosis	http://purl.obolibrary.org/obo/MONDO_0009199		UMLS:C0268423|http://identifiers.org/omim/227150|SNOMEDCT:64235006|MESH:C562651
HGNC:21197	FA2H	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21197		
GO:0099080	supramolecular complex	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0099080	A cellular component that consists of an indeterminate number of proteins or macromolecular complexes, organized into a regular, higher-order structure such as a polymer, sheet, network or a fiber.	
MONDO:0009198	congenital lethal erythroderma	biolink:Disease	mondo	MESH:C535513|GARD:0002192|ICD10:Q82.8|SCTID:722391005|Orphanet:1954|OMIM:227090	ordo_disease|gard_rare	erythroderma, lethal congenital|congenital exfoliative erythroderma resistant to treatment|lethal congenital erythroderma|erythroderma lethal congenital	http://purl.obolibrary.org/obo/MONDO_0009198	Congenital lethal erythroderma is a rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992.	http://identifiers.org/omim/227090|ORPHA:1954|UMLS:C1856898|SNOMEDCT:722391005|MESH:C535513
MONDO:0010176	orofaciodigital syndrome type 6	biolink:Disease	mondo	OMIM:277170|MESH:C536531|DOID:0060376|GARD:0004412|ICD10:Q04.3|SCTID:721873007|UMLS:C2745997|NCIT:C124841|Orphanet:2754	gard_rare|ordo_disease	Varadi syndrome|Varadi-Papp syndrome|Joubert syndrome with orofaciodigital defect|oral-facial-digital syndrome type 6|orofaciodigital syndrome VI|orofaciodigital syndrome 6|orofaciodigital syndrome type 6|polydactyly cleft lip palate psychomotor retardation|Váradi-Papp syndrome|oral-Facial-digital syndrome, type 6|polydactyly, cleft Lip/palate or lingual lump, and psychomotor retardation|Váradi syndrome|Joubert syndrome with oral-facial-digital syndrome|polydactyly - cleft lip/palate - psychomotor retardation|polydactyly-cleft lip/palate-psychomotor retardation syndrome|Ofds 6|orofaciodigital syndrome VI|orofaciodigital syndrome VI; OFD6|OFD6	http://purl.obolibrary.org/obo/MONDO_0010176	Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.	MESH:C536531|SNOMEDCT:721873007|DOID:0060376|http://identifiers.org/omim/277170|UMLS:C2745997|NCIT:C124841|ORPHA:2754
MONDO:0010175	van Bogaert-Hozay syndrome	biolink:Disease	mondo	MESH:C536526|OMIM:277150|GARD:0008415|UMLS:C1848598	gard_rare	van Bogaert-Hozay syndrome|A familial form of acro-osteolysis associated with a mild mental retardation, skin atrophy, facial dysmorphism, and ocular defects|A familial form of acro-osteolysis associated with a mild intellectual disability, skin atrophy, facial dysmorphism, and ocular defects|Hozay’s syndrome|Hozay's syndrome|acro-osteolysis-facial dysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0010175		MESH:C536526|http://identifiers.org/omim/277150|UMLS:C1848598
MONDO:0009197	transient erythroblastopenia of childhood	biolink:Disease	mondo	NCIT:C131683|UMLS:C0238478|ICD9:284.81|ICD10:D60.1|Orphanet:98871|MESH:C536980|OMIM:227050|SCTID:191255003|UMLS:C0451688|GARD:0007793	gard_rare|ordo_disease	transient erythroblastopenia of childhood; tec|tec|transient erythroblastopenia of childhood|familial transient erythroblastopenia of childhood|erythroblastopenia, transient|transient acquired pure red cell aplasia	http://purl.obolibrary.org/obo/MONDO_0009197	An acquired pure red cell aplasia that is self-limited. It is the most common cause of decreased red blood cell production in the pediatric population, and typically presents as a normocytic anemia with reticulocytopenia in an otherwise asymptomatic and normal child with no evidence of other causes for anemia, including blood loss, hemolysis, nutritional deficiency, or malignancy.	UMLS:C0238478|http://identifiers.org/omim/227050|UMLS:C0451688|ORPHA:98871|MESH:C536980|NCIT:C131683|SNOMEDCT:191255003
MONDO:0009196	ermine phenotype	biolink:Disease	mondo	UMLS:C0268501|ICD10:E70.3|MEDGEN:82812|Orphanet:999|ICD9:270.2|UMLS:C1856899|MESH:C535508|MESH:C562663|SCTID:10170007|GARD:0000407|OMIM:227010	ordo_malformation_syndrome|gard_rare	BADS|BADS syndrome|black locks, oculocutaneous albinism, and deafness of the sensorineural type|pigmentary disorder with hearing loss|ermine phenotype|black locks with albinism and deafness syndrome|O'Doherty syndrome	http://purl.obolibrary.org/obo/MONDO_0009196	Cutaneous albinism-ermine phenotype is characterised by the association of white hair with black tufts, depigmented skin and sensorineural deafness. It has been described in two pairs of siblings and one individual case. The depigmentation may present as vitiligo, or be spotted with brown patches. Nystagmus, photophobia, retinal depigmentation and intellectual deficit were also reported in one pair of siblings. An autoimmune mechanism or failure of melanocyte migration may be responsible for the disease.	SNOMEDCT:10170007|http://identifiers.org/omim/227010|UMLS:C1856899|MESH:C535508|ORPHA:999|MESH:C562663|UMLS:C0268501
MONDO:0010178	congenital bilateral aplasia of vas deferens from CFTR mutation	biolink:Disease	mondo	NCIT:C129303|OMIM:277180		vas deferens, congenital bilateral aplasia of; CBAVD|CBAVD|CAVD|congenital bilateral aplasia of the vas deferens|vas deferens, congenital bilateral aplasia of	http://purl.obolibrary.org/obo/MONDO_0010178	An autosomal recessive disorder that is associated with mutation(s) in the CFTR gene, encoding cystic fibrosis transmembrane conductance regulator. Mutation(s) in the same gene are associated with cystic fibrosis.	NCIT:C129303|http://identifiers.org/omim/277180
MONDO:0010177	retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome	biolink:Disease	mondo	ICD10:E78.8|GARD:0004635|MESH:C564750|Orphanet:3018|OMIM:277175	ordo_malformation_syndrome	digestive tract and renal small vessel hyalinosis, intracerebral calcifications, retinal ischemic syndrome and phenotypic a|Rambaud-Gallian syndrome|Rambaud-Gallian-Touchard syndrome|vascular hyalinosis	http://purl.obolibrary.org/obo/MONDO_0010177	Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome is characterized by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract, kidneys, and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikilodermia and greying hair, as well as severe diarrhoea, rectal bleeding, malabsorption and subarachnoid hemorrhage.	MESH:C535283|MESH:C564750|http://identifiers.org/omim/277175|ORPHA:3018|UMLS:C2930864
MONDO:0009195	erythema of acral regions	biolink:Disease	mondo	OMIM:227000		erythema of acral regions	http://purl.obolibrary.org/obo/MONDO_0009195		http://identifiers.org/omim/227000
MONDO:0009194	chronic Epstein-Barr virus infection syndrome	biolink:Disease	mondo	OMIM:614894|OMIM:226990|Orphanet:2566|ICD10:B27.0|GARD:0009534	ordo_disease|gard_rare	CAEBV syndrome|CAEBV infection|immunodeficiency 32B; IMD32B|chronic active Epstein-Barr virus infection|chronic EBV infection syndrome|CEBV|IMD32B|IRF8 deficiency, autosomal recessive|Epstein-Barr VIRUS, susceptibility to chronic infection by|chronic active Epstein-Barr disease|monocyte and dendritic cell deficiency, autosomal recessive|immunodeficiency 32B, monocyte, Dendritic cell, and natural Killer cell deficiency, autosomal recessive|immunodeficiency 32B	http://purl.obolibrary.org/obo/MONDO_0009194	Chronic active Epstein-Barr virus infection (CAEBV) is a rare progressive disease that begins as a primary Epstein-Barr virus (EBV) infection. In this type of infection, the body makes too many lymphocytes (lymphoproliferative disease) for a period of more than 6 months duration. Lymphocytes are a type of white blood cell. They are an importantpart ofthe immune system because they help fight off diseases and protect the body from infection byproducing antibodies against viruses or bacteria and regulating immune responses. In CAEBV there are many antibodies againstEBV in the blood.Most people (about 95% of adults) get infected with EBV at some point in their lives, and never have any health problems.However, EBV can cause infectiousmononucleosis and other illnesses, and has a role in various autoimmune diseases and some types of cancer. While most infections occurring during childhood do not cause any symptoms,EBV infection in adolescents or young adults can often result in mononucleosis.After an EBV infection, the virus becomes latent (inactive) in the body, and, in some cases, the virus may reactivate. This does not always cause symptoms, but people with weakened immune systems are more likely to develop symptoms if EBV reactivates.In rare cases, people infected with EBV develop chronic active EBV virus infection(CAEBV) without apparent immunodeficiency. Most cases of CAEBV have been reported from Japan. These patientshave some of the complications found in otherwise-healthy patients with acute EBV infection, but unlike healthy patients, these complications persist and progress. Symptoms of CAEBV most often include fever, liverdysfunction, an enlarged spleen (splenomegaly), swollen lymph nodes (lymphadenopathy), and low numbers of platelets (thrombocytopenia) as well as high EBV-DNA load in the blood. Other features that appear in more than 10% of patients include enlarged liver (hepatomegaly), anemia, hypersensitivity to mosquito bites, rash, oral ulcers, hemophagocytic syndrome, coronary artery aneurysms, liver failure, lymphoma, and interstitial pneumonia. While the cause is yet unknown, researchers have identified defects in T cells or natural killer (NK) cells activity which results in a decreased defense against the EBV in people with CAEBV.It is important to note that the fatigue and malaise from acute infectious mononucleosis (IM)varies from mild symptoms lasting only a few weeks, to more severe symptoms of fatigue that can persist for several months, or even up to a year or more in up to 10% of patients (which may be considered a less severe form of chronicEBV infection). The persistence of fatigue that is seen in some patients after acute IM would lead some people to believe that EBV may also cause cases of chronic fatigue syndrome (CFS). However, no convincing link has been found between EBV and CFS.Hematopoietic stemcell transplantation has shown promise in the treatment of CAEBV.	ORPHA:2566|http://identifiers.org/omim/226990|http://identifiers.org/omim/614894
MONDO:0009193	epithelial squamous dysplasia, keratinizing desquamative, of urinary tract	biolink:Disease	mondo	OMIM:226985|MESH:C565584|UMLS:C1856902		epithelial squamous dysplasia, keratinizing desquamative, of urinary tract	http://purl.obolibrary.org/obo/MONDO_0009193		MESH:C565584|UMLS:C1856902|http://identifiers.org/omim/226985
MONDO:0010179	isolated right ventricular hypoplasia	biolink:Disease	mondo	ICD10:Q22.6|SCTID:718135001|UMLS:C1848587|MESH:C535682|GARD:0004721|Orphanet:439|OMIM:277200	ordo_morphological_anomaly	isolated hypoplasia of the right ventricle|Irvh|right ventricular hypoplasia, isolated|hypoplasia of the right ventricle|right ventricular hypoplasia|right ventricle hypoplasia	http://purl.obolibrary.org/obo/MONDO_0010179	Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy.	ORPHA:439|SNOMEDCT:718135001|MESH:C535682|http://identifiers.org/omim/277200|UMLS:C1848587
MONDO:0009192	Wolcott-Rallison syndrome	biolink:Disease	mondo	ICD10:E13|Orphanet:1667|UMLS:C0432217|GARD:0005589|NCIT:C131007|MESH:C536739|DOID:0090060|OMIM:226980|SCTID:254066006	ordo_disease|gard_rare	early-onset diabetes mellitus with multiple epiphyseal dysplasia|Wolcott-Rallison syndrome|epiphyseal dysplasia multiple with early-onset diabetes mellitus|WRS|Iddm-Med syndrome|IDDM-MED syndrome|MED-IDDM syndrome|Med-Iddm syndrome|epiphyseal dysplasia, multiple, with early-onset diabetes mellitus|Wolcott Rallison syndrome	http://purl.obolibrary.org/obo/MONDO_0009192	Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.	ORPHA:1667|NCIT:C131007|DOID:0090060|MESH:C536739|UMLS:C0432217|http://identifiers.org/omim/226980|SNOMEDCT:254066006
MONDO:0009191	Lowry-Wood syndrome	biolink:Disease	mondo	SCTID:721975004|ICD10:Q87.5|MESH:C537038|Orphanet:1824|MedDRA:10062600|GARD:0000264|OMIM:226960|UMLS:C0796021	ordo_disease|gard_rare	epiphyseal dysplasia-microcephaly-nystagmus syndrome|Lowry-Wood syndrome|LWS|epiphyseal dysplasia, microcephaly, and NYSTAGMUS|Lowry Wood syndrome|epiphyseal dysplasia, microcephaly and nystagmus	http://purl.obolibrary.org/obo/MONDO_0009191	Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.	ORPHA:1824|MEDDRA:10062600|http://identifiers.org/omim/226960|SNOMEDCT:721975004|UMLS:C0796021|MESH:C537038
MONDO:0009190	epiphyseal dysplasia of femoral head, myopia, and deafness	biolink:Disease	mondo	OMIM:226950|UMLS:C1856918|MESH:C565585		epiphyseal dysplasia of femoral head, myopia, and deafness	http://purl.obolibrary.org/obo/MONDO_0009190		MESH:C565585|UMLS:C1856918|http://identifiers.org/omim/226950
MONDO:0010170	Usher syndrome type 3A	biolink:Disease	mondo	OMIM:276902|DOID:0110841|ICD10:H35.5		Usher syndrome caused by mutation in CLRN1|USHER syndrome, type IIIA; USH3A|CLRN1 Usher syndrome|Usher syndrome type IIIA|USH3A|Usher syndrome, type 3|USHER syndrome, type IIIA|Usher syndrome, type 3A	http://purl.obolibrary.org/obo/MONDO_0010170	Any Usher syndrome in which the cause of the disease is a mutation in the CLRN1 gene.	DOID:0110841|http://identifiers.org/omim/276902
MONDO:0010172	VACTERL with hydrocephalus	biolink:Disease	mondo	UMLS:C1848599|ICD10:Q87.8|OMIM:276950|GARD:0000272|Orphanet:3412	ordo_malformation_syndrome	VACTERL hydrocephaly|vertebral (V), anal (A), cardiac (C), tracheoesophageal (te), renal (R) and limb (L) anomalies and hydrocephaly|VACTERL association with hydrocephalus|Vater association with hydrocephalus|Sujansky-Leonard syndrome|Vater association with macrocephaly and ventriculomegaly|VACTERL association with hydrocephaly|VACTERL-H	http://purl.obolibrary.org/obo/MONDO_0010172	VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.	UMLS:C1848599|ORPHA:3412|http://identifiers.org/omim/276950
MONDO:0010171	Usher syndrome type 1C	biolink:Disease	mondo	GARD:0005437|OMIM:276904|DOID:0110830|UMLS:C1848604|ICD10:H35.5	gard_rare	USHER syndrome, type IC; USH1C|USH1C|Usher syndrome, type I, Acadian variety|Usher syndrome type IC|USHER syndrome, type IC|Usher syndrome type I Acadian variety|Usher syndrome, Acadian variety|Usher syndrome, type 1C	http://purl.obolibrary.org/obo/MONDO_0010171	A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding harmonin on chromosome 11p15. It is inherited in an autosomal recessive manner.	DOID:0110830|UMLS:C1848604|http://identifiers.org/omim/276904
MONDO:0010174	Valinemia	biolink:Disease	mondo	MESH:C536524|GARD:0007845|SCTID:47719001|UMLS:C0268573|OMIM:277100	gard_rare	hypervalinemia|valine transaminase deficiency|Valinemia	http://purl.obolibrary.org/obo/MONDO_0010174	Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine.Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. Low muscle tone (hypotonia), excessive drowsiness, hyperactivity, and developmental delay have also been reported. Valinemia is caused by a deficiency of the enzymevaline transaminase, which is needed for the breakdown (metabolism) of valine in the body. It is inherited in an autosomal recessive manner, although the gene responsible for the condition is not yet known. Treatment includes adiet low in valine (introduced during early infancy) which usually improves symptoms and brings valine levels to normal.	MESH:C536524|http://identifiers.org/omim/277100|SNOMEDCT:47719001|UMLS:C0268573
MONDO:0010173	Mayer-Rokitansky-Kuster-Hauser syndrome type 1	biolink:Disease	mondo	OMIM:277000|SCTID:8793008|ICD10:Q51.8|Orphanet:247775|GARD:0007100|ICD9:752.49	ordo_clinical_subtype|gard_rare	Mrk anomaly|genital renal ear syndrome|Mayer-Rokitansky-Küster-Hauser syndrome type 1|Müllerian agenesis|Von Mayer-Rokitansky-Kuster anomaly|congenital absence of the uterus and vagina (CAUV)|MRKH syndrome|MRKH anomaly|MRKH syndrome type 1|Mullerian dysgenesis|uterus Bipartitus solidus Rudimentarius cum vagina Solida|Mullerian aplasia/dysgenesis|Rokitansky syndrome|Mayer-Rokitansky-KUSTER-Hauser syndrome|urogenital adysplasia|Rokitansky sequence|congenital absence of uterus and vagina|Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH)	http://purl.obolibrary.org/obo/MONDO_0010173	Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females.	http://identifiers.org/omim/277000|ORPHA:247775|SNOMEDCT:8793008
HP:0011297	Abnormal digit morphology	biolink:PhenotypicFeature	mondo	UMLS:C3550704	hposlim_core	Abnormality of digit|Digital anomalies|Abnormality of fingers or toes	http://purl.obolibrary.org/obo/HP_0011297	A morphological abnormality of a digit, i.e., of a finger or toe.	
GO:0016787	hydrolase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016787	Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3.	
GO:0016788	hydrolase activity, acting on ester bonds	biolink:OntologyClass	mondo			esterase activity	http://purl.obolibrary.org/obo/GO_0016788	Catalysis of the hydrolysis of any ester bond.	
ENVO:01001434	anthropogenic ecosystem conversion process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001434	A process during which an ecosystem - natural or anthropised - is changed by the actions of humans.	
HP:0011280	Abnormality of urine calcium concentration	biolink:PhenotypicFeature	mondo	UMLS:C4023434		Abnormality of urine Ca2+ concentration|Abnormality of urine Ca concentration	http://purl.obolibrary.org/obo/HP_0011280	An abnormality of calcium concentration in the urine.	
HP:0011282	Abnormality of hindbrain morphology	biolink:PhenotypicFeature	mondo	UMLS:C4021170		Abnormal shape of hindbrain|Abnormality of the hindbrain	http://purl.obolibrary.org/obo/HP_0011282	An abnormality of the hindbrain, also known as the rhombencephalon.	
HP:0011283	Abnormality of the metencephalon	biolink:PhenotypicFeature	mondo	UMLS:C4023432			http://purl.obolibrary.org/obo/HP_0011283	An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum.	
HGNC:21176	RMND1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21176		
MONDO:0034143	early-onset calcifying leukoencephalopathy-skeletal dysplasia	biolink:Disease	mondo	Orphanet:556985	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0034143		ORPHA:556985
MONDO:0034142	pancreatic agenesis-holoprosencephaly syndrome	biolink:Disease	mondo	Orphanet:556955	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0034142		ORPHA:556955
GO:0016798	hydrolase activity, acting on glycosyl bonds	biolink:OntologyClass	mondo			glycosidase activity|N-glycosylase|glycosylase	http://purl.obolibrary.org/obo/GO_0016798	Catalysis of the hydrolysis of any glycosyl bond.	
MONDO:0034147	neonatal epileptic encephalopathy due to glutaminase deficiency	biolink:Disease	mondo	Orphanet:557064	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0034147		ORPHA:557064
MONDO:0034146	spastic ataxia-dysarthria due to glutaminase deficiency	biolink:Disease	mondo	Orphanet:557056	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0034146		ORPHA:557056
MONDO:0034145	oculocerebrodental syndrome	biolink:Disease	mondo	Orphanet:557003|OMIM:618440	ordo_disease	Cataracts, Early-Onset, With Skeletal and Dental Anomalies|OCSKD|oculoskeletodental syndrome|oculoskeletodental syndrome; OCSKD	http://purl.obolibrary.org/obo/MONDO_0034145		http://identifiers.org/omim/618440|ORPHA:557003
GO:0016791	phosphatase activity	biolink:OntologyClass	mondo			para-nitrophenyl phosphatase activity|4-nitrophenylphosphatase activity|p-nitrophenylphosphate phosphohydrolase activity|phosphatase|phosphoric monoester hydrolase activity|p-nitrophenylphosphatase activity|4-nitrophenylphosphate phosphohydrolase activity|K-pNPPase activity|PNPPase activity|ecto-p-nitrophenyl phosphatase activity|NPPase activity|nitrophenyl phosphatase activity	http://purl.obolibrary.org/obo/GO_0016791	Catalysis of the hydrolysis of phosphoric monoesters, releasing inorganic phosphate.	
HGNC:21144	DSE	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21144		
HP:0011276	Vascular skin abnormality	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:11263005|UMLS:C0162819|MSH:D017445|UMLS:C1842892		Vascular abnormalities restricted to skin|Skin vascular malformation	http://purl.obolibrary.org/obo/HP_0011276		
HP:0011277	Abnormality of the urinary system physiology	biolink:PhenotypicFeature	mondo	UMLS:C4023437			http://purl.obolibrary.org/obo/HP_0011277		
HGNC:21143	ZBTB24	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21143		
GO:0016769	transferase activity, transferring nitrogenous groups	biolink:OntologyClass	mondo			transferase activity, transferring other nitrogenous groups	http://purl.obolibrary.org/obo/GO_0016769	Catalysis of the transfer of a nitrogenous group from one compound (donor) to another (acceptor).	
MONDO:0034150	idiopathic gastroparesis	biolink:Disease	mondo	Orphanet:558411	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0034150		ORPHA:558411
GO:0016765	transferase activity, transferring alkyl or aryl (other than methyl) groups	biolink:OntologyClass	mondo			transferase activity, transferring alkyl or aryl groups, other than methyl groups	http://purl.obolibrary.org/obo/GO_0016765	Catalysis of the transfer of an alkyl or aryl (but not methyl) group from one compound (donor) to another (acceptor).	
CHEBI:51086	chemical role	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_51086	A role played by the molecular entity or part thereof within a chemical context.	
HGNC:21158	RNF135	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21158		
HGNC:21157	GTF2H5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21157		
HGNC:21150	RNF125	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21150		
MONDO:0022196	chronic erosive gastritis	biolink:Disease	mondo	ICD9:535.40|GARD:0006099|UMLS:C0267145|SCTID:63137003	gard_rare	varioliform gastritis|idiopathic chronic, erosive gastritis|chronic erosive gastritis|diffuse varioliform gastritis|ceg - chronic erosive gastritis	http://purl.obolibrary.org/obo/MONDO_0022196		SNOMEDCT:63137003|UMLS:C0267145
GO:0016778	diphosphotransferase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016778	Catalysis of the transfer of a diphosphate group from one compound (donor) to a another (acceptor).	
GO:0016774	phosphotransferase activity, carboxyl group as acceptor	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016774	Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to a carboxyl group (acceptor).	
GO:0016772	transferase activity, transferring phosphorus-containing groups	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016772	Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to another (acceptor).	
GO:0016773	phosphotransferase activity, alcohol group as acceptor	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016773	Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to an alcohol group (acceptor).	
HGNC:21244	LEMD2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21244		
UBERON:5003625	manual digit 5 plus metapodial segment	biolink:AnatomicalEntity	mondo			manual digit V plus metapodial segment|manual digit 5 digitopodial subdivision|manual digit 5 ray|manual digit 5 ( phalanges plus metapodial) plus soft tissue|manual digit 5	http://purl.obolibrary.org/obo/UBERON_5003625	A subdivision of the autopod consisting of manual digit 5 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis.	
MONDO:0000674	mirror agnosia	biolink:Disease	mondo	DOID:0060144			http://purl.obolibrary.org/obo/MONDO_0000674	An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field.	DOID:0060144
MONDO:0000673	integrative agnosia	biolink:Disease	mondo	DOID:0060143			http://purl.obolibrary.org/obo/MONDO_0000673	Agnosia characterized by the inability to integrate perceptual wholes within knowledge.	DOID:0060143
MONDO:0000672	form agnosia	biolink:Disease	mondo	DOID:0060142			http://purl.obolibrary.org/obo/MONDO_0000672	An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details.	DOID:0060142
MONDO:0024643	myocardial disorder	biolink:Disease	mondo	NCIT:C35544|SCTID:57809008		myocardial disorder|myocardium disease or disorder|disorder of myocardium|disease or disorder of myocardium|disorder of myocardium|disorder of heart muscle|myocardial disease|disease of myocardium|myocardium disease	http://purl.obolibrary.org/obo/MONDO_0024643	A disorder that affects the muscle tissue of the heart. Representative examples include myocardial infarction, myocarditis, and cardiomyopathy.	SNOMEDCT:57809008|NCIT:C35544
HGNC:21246	PNPLA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21246		
MONDO:0024642	gastric neuroendocrine tumor G2	biolink:Disease	mondo	UMLS:C3272407|NCIT:C95880		gastric NET G2|gastric neuroendocrine tumor G2	http://purl.obolibrary.org/obo/MONDO_0024642	A well differentiated, intermediate grade tumor with neuroendocrine differentiation that arises from the stomach. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3 to 20 percent.	NCIT:C95880|UMLS:C3272407
NCBITaxon:41831	Psychodoidea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_41831		
MONDO:0000671	finger agnosia (disease)	biolink:Disease	mondo	HP:0010525|DOID:0060141		finger agnosia|manual digit agnosia	http://purl.obolibrary.org/obo/MONDO_0000671	An agnosia characterized by an inabilty to distinguish, name, or recognize the fingers	DOID:0060141
MONDO:0000678	simultanagnosia	biolink:Disease	mondo	GARD:0011943|DOID:0060148	gard_rare		http://purl.obolibrary.org/obo/MONDO_0000678	An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time.	DOID:0060148
MONDO:0024645	retroperitoneal neoplasm	biolink:Disease	mondo	NCIT:C3357		tumor of retroperitoneal space|retroperitoneal neoplasm|neoplasm of retroperitoneal space|retroperitoneal space tumor|retroperitoneal space neoplasm	http://purl.obolibrary.org/obo/MONDO_0024645	A benign or malignant neoplasm that affects the retroperitoneum.	NCIT:C3357
MONDO:0024644	myocardial ischemia	biolink:Disease	mondo	SCTID:414545008|NCIT:C50625|MESH:D017202|EFO:1001375|ICD10:I20.I25|UMLS:C0151744		ischemic heart diseases|ischemic disease of myocardium|IHD|ischemias, myocardial|ischemic heart disease|heart disease, ischemic|disease, ischemic heart|myocardium ischemic disease|heart diseases, ischemic|myocardial Ischemias|ischemia, myocardial|diseases, ischemic heart	http://purl.obolibrary.org/obo/MONDO_0024644	A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (coronary artery disease), to obstruction by a thrombus (coronary thrombosis), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (myocardial infarction).	UMLS:C0151744|SNOMEDCT:414545008|NCIT:C50625|MESH:D017202
MONDO:0000677	semantic agnosia	biolink:Disease	mondo	DOID:0060147			http://purl.obolibrary.org/obo/MONDO_0000677	An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object.	DOID:0060147
MONDO:0024647	urolithiasis	biolink:Disease	mondo	ICD10:N21|NCIT:C114688|UMLS:C0451641|DOID:0080653|SCTID:95566004		calculus|urolithiasis|kidney stone|urinary stones	http://purl.obolibrary.org/obo/MONDO_0024647	Stone(s) within the urinary tract.	SNOMEDCT:95566004|UMLS:C0451641|DOID:0080653|NCIT:C114688
MONDO:0000676	phonagnosia	biolink:Disease	mondo	DOID:0060146			http://purl.obolibrary.org/obo/MONDO_0000676	An agnosia that is a loss of the ability to recognize familiar voices.	DOID:0060146
MONDO:0024646	obsolete refractory	biolink:Disease	mondo	UMLS:C1514815|NCIT:C39752			http://purl.obolibrary.org/obo/MONDO_0024646		NCIT:C39752
MONDO:0000675	pain agnosia	biolink:Disease	mondo	NCIT:C125664|EFO:1001484|DOID:0060145		analgesia	http://purl.obolibrary.org/obo/MONDO_0000675	Loss of the ability to perceive and process pain.	DOID:0060145|NCIT:C125664
MONDO:0009009	hypoplasminogenemia	biolink:Disease	mondo	GARD:0004380|ICD10:L90.5|MESH:C580017|UMLS:C0398621|Orphanet:722|UMLS:C1968804|OMIM:217090|SCTID:95840007	ordo_disease	plasminogen deficiency, type I|ligneous conjunctivitis|type 1 plasminogen deficiency|Dysplasminogenemia|plasminogen deficiency, type 2|plasminogen deficiency, type 1|plasminogen deficiency type 1	http://purl.obolibrary.org/obo/MONDO_0009009	Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterised by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing.	UMLS:C0398621|ORPHA:722|MESH:C580017|SNOMEDCT:95840007|UMLS:C1968804|http://identifiers.org/omim/217090
MONDO:0009008	heart defect - tongue hamartoma - polysyndactyly syndrome	biolink:Disease	mondo	GARD:0002612|OMIM:217085|GARD:0004166|MESH:C535849|UMLS:C2931046|ICD10:Q87.8|Orphanet:1338|DOID:0111591	ordo_malformation_syndrome|gard_rare	congenital heart defects, hamartomas of tongue, and polysyndactyly|Ostravik-Lindemann-Solberg syndrome|CHDTHP|congenital heart defects, hamartomas of tongue, and polysyndactyly; CHDTHP|Orstavik Lindemann Solberg syndrome|heart defect, tongue hamartoma and polysyndactyly	http://purl.obolibrary.org/obo/MONDO_0009008		ORPHA:1338|DOID:0111591|MESH:C535849|UMLS:C2931046|http://identifiers.org/omim/217085
MONDO:0009007	Jalili syndrome	biolink:Disease	mondo	DOID:0111404|Orphanet:1873|GARD:0001463|ICD9:520.5|UMLS:CN200616|OMIM:217080|ICD9:362.75|UMLS:C3495589|ICD10:H35.5|MESH:C000596385|SCTID:707608003	ordo_malformation_syndrome|gard_rare	cone rod dystrophy-amelogenesis imperfecta syndrome|Jalili syndrome|cone-rod dystrophy and amelogenesis imperfecta|cone-rod dystrophy amelogenesis imperfecta|cone-rod dystrophy with amelogenesis imperfecta	http://purl.obolibrary.org/obo/MONDO_0009007	Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy (CORD).	UMLS:C3495589|UMLS:CN200616|DOID:0111404|ORPHA:1873|UMLS:C2931074|SNOMEDCT:707608003|http://identifiers.org/omim/217080|MESH:C000596385
MONDO:0009006	complement component 2 deficiency	biolink:Disease	mondo	GARD:0001452|NCIT:C119992|DOID:0060295|OMIM:217000|UMLS:C3150275|ICD10:D84.1	gard_rare	complement component 2 deficiency|C2 complement deficiency|complement component 2 deficiency; C2D|C2 deficiency|C2D|complement deficiency caused by mutation in C2	http://purl.obolibrary.org/obo/MONDO_0009006	Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions associated with C2D are lupus (10-20%) and vasculitis. C2D is caused by mutations in the C2 gene and is inherited in an autosomal recessive fashion.	UMLS:C3150275|DOID:0060295|http://identifiers.org/omim/217000|NCIT:C119992
MONDO:0012658	brachydactyly type B2	biolink:Disease	mondo	ICD10:Q73.8|UMLS:C1969652|OMIM:611377|Orphanet:140908|DOID:0110975	ordo_malformation_syndrome	BDB2|brachydactyly, type B2|brachydactyly, type B2; BDB2	http://purl.obolibrary.org/obo/MONDO_0012658	Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.	UMLS:C1969652|DOID:0110975|http://identifiers.org/omim/611377|ORPHA:140908
MONDO:0012659	age related macular degeneration 9	biolink:Disease	mondo	OMIM:611378|MESH:C566958|DOID:0110021|UMLS:C1969651		age related macular degeneration type 9|macular degeneration, age-related, 9; ARMD9|age-related macular degeneration caused by mutation in C3|C3 age-related macular degeneration|macular degeneration, age-related, 9|ARMD9|macular Degeneration, age-related, type 9	http://purl.obolibrary.org/obo/MONDO_0012659	Any age-related macular degeneration in which the cause of the disease is a mutation in the C3 gene.	UMLS:C1969651|http://identifiers.org/omim/611378|DOID:0110021|MESH:C566958
MONDO:0009005	complement component C1r/C1s deficiency	biolink:Disease	mondo	OMIM:216950|NCIT:C119991|UMLS:C3150274		complement component C1r/C1s deficiency|C1r/C1s deficiency	http://purl.obolibrary.org/obo/MONDO_0009005	Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.	http://identifiers.org/omim/216950|UMLS:C3150274|NCIT:C119991
MONDO:0000670	cortical deafness	biolink:Disease	mondo	UMLS:C0392704|DOID:0060140			http://purl.obolibrary.org/obo/MONDO_0000670	An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact.	UMLS:C0392704|DOID:0060140
MONDO:0009004	combined inflammatory and immunologic defect	biolink:Disease	mondo	MESH:C565684|UMLS:C1857617|OMIM:216920		combined inflammatory and immunologic defect	http://purl.obolibrary.org/obo/MONDO_0009004		MESH:C565684|UMLS:C1857617|http://identifiers.org/omim/216920
MONDO:0009003	achromatopsia 2	biolink:Disease	mondo	GARD:0009649|DOID:0110007|UMLS:C1857618|OMIM:216900	gard_rare	RMCH2|Rod monochromacy 2|colorblindness, total|achromatopsia 2; ACHM2|rod monochromacy 2|CNGA3 achromatopsia|Rod monochromatism 2|achromatopsia type 2|ACHM2|achromatopsia caused by mutation in CNGA3|rod monochromatism 2|achromatopsia 2	http://purl.obolibrary.org/obo/MONDO_0009003	Achromatopsia 2 is a condition that affects the color vision. Most people have complete achromatopsia which is characterized by a total absence of color vision (only able to see black, white and shades of gray). Rarely, affected people may have incomplete achromatopsia which is associated with some color discrimination. Other common signs and symptoms include reduced visual acuity, involuntary back-and-forth eye movements, increased sensitivity to light (photophobia), and hyperopia (farsightedness). Achromatopsia 2 is caused by changes (mutations) in the CNGA3 gene and is inherited in an autosomal recessive manner. Although color discrimination cannot be improved, treatments are available to address some of the other associated symptoms.	DOID:0110007|UMLS:C1857618|http://identifiers.org/omim/216900
MONDO:0009002	coloboma, ocular, autosomal recessive	biolink:Disease	mondo	UMLS:C4011974|OMIM:216820		coloboma, ocular, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009002		UMLS:C4011974|http://identifiers.org/omim/216820
MONDO:0009001	macular coloboma-cleft palate-hallux valgus syndrome	biolink:Disease	mondo	ICD10:Q87.8|UMLS:C1857619|OMIM:216800|SCTID:722463001|Orphanet:91494|MESH:C565686	ordo_malformation_syndrome	coloboma of macula and skeletal anomalies	http://purl.obolibrary.org/obo/MONDO_0009001	Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive.	MESH:C565686|SNOMEDCT:722463001|ORPHA:91494|UMLS:C1857619|http://identifiers.org/omim/216800
MONDO:0009000	familial reactive perforating collagenosis	biolink:Disease	mondo	GARD:0013331|UMLS:C1857624|ICD10:L87.1|OMIM:216700|MESH:C565687|Orphanet:79147	ordo_disease|gard_rare	collagenosis, familial reactive perforating; RPC|inherited reactive perforating collagenosis|collagenosis, familial reactive perforating|RPC	http://purl.obolibrary.org/obo/MONDO_0009000	Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules.	MESH:C565687|ORPHA:79147|http://identifiers.org/omim/216700|UMLS:C1857624
MONDO:0010000	rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction	biolink:Disease	mondo	OMIM:268315|MESH:C564829|UMLS:C1849333		rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction	http://purl.obolibrary.org/obo/MONDO_0010000		http://identifiers.org/omim/268315|UMLS:C1849333|MESH:C564829
MONDO:0012663	Plasmodium falciparum fever episodes quantitative trait locus 1	biolink:Disease	mondo	OMIM:611384		Plasmodium falciparum fever episodes quantitative trait locus 1|malaria fever episodes quantitative trait locus 1|Plasmodium falciparum fever episodes quantitative trait locus type 1|Pffe1	http://purl.obolibrary.org/obo/MONDO_0012663		http://identifiers.org/omim/611384
HGNC:4177	GBA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4177		
MONDO:0012664	spastic ataxia 3	biolink:Disease	mondo	MESH:C566956|Orphanet:314603|UMLS:C1969645|UMLS:CN230089|DOID:0050942|OMIM:611390|ICD10:G11.4	ordo_disease	autosomal recessive spastic ataxia with leukoencephalopathy|autosomal recessive spastic ataxia type 3|spastic ataxia 3, autosomal recessive; SPAX3|spastic ataxia type 3|MARS2 autosomal recessive spastic ataxia|spastic ataxia 3, autosomal recessive|ARSAL|SPAX3|autosomal recessive spastic ataxia caused by mutation in MARS2	http://purl.obolibrary.org/obo/MONDO_0012664	Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MARS2 gene.	UMLS:CN230089|http://identifiers.org/omim/611390|MESH:C566956|DOID:0050942|ORPHA:314603|UMLS:C1969645
MONDO:0010002	Rothmund-Thomson syndrome	biolink:Disease	mondo	UMLS:C0032339|Orphanet:2909|DOID:2732|MESH:D011038|GARD:0004392|OMIMPS:268400|NCIT:C3335|SCTID:69093006|ICD10:Q82.8|ICD9:759.89	ordo_disease	poikiloderma of Rothmund-Thomson|Rothmund-Thomson syndrome|Rothmund-Thomson syndrome; RTS|RTS|poikiloderma congenitale|congenital poikiloderma|RTS|poikiloderma atrophicans and cataract	http://purl.obolibrary.org/obo/MONDO_0010002	Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers.	SNOMEDCT:69093006|UMLS:C0032339|NCIT:C3335|ORPHA:2909|MESH:D011038|DOID:2732
MONDO:0012661	susceptibility to visceral leishmaniasis, 3	biolink:Disease	mondo	OMIM:611382	predisposition	leishmaniasis, visceral, susceptibility to, 3|kala-AZAR, susceptibility to, 3; KAZA3|kala-AZAR, susceptibility to, 3|KAZA3	http://purl.obolibrary.org/obo/MONDO_0012661		http://identifiers.org/omim/611382
HGNC:4175	GATM	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4175		
HGNC:33235	PWRN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/33235		
MONDO:0010001	ectodermal dysplasia-blindness syndrome	biolink:Disease	mondo	GARD:0000293|OMIM:268320|Orphanet:1806|ICD10:Q87.8|MESH:C535865|UMLS:C1849332	ordo_malformation_syndrome	microphthalmos, microcornea, and sclerocornea with short stature and hair and dental abnormalities|microphthalmia, microcornea, and sclerocornea with short stature and hair and dental abnormalities|RODRIGUES blindness	http://purl.obolibrary.org/obo/MONDO_0010001	Ectodermal dysplasia-blindness syndrome is characterized by intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait.	ORPHA:1806|http://identifiers.org/omim/268320|UMLS:C1849332|MESH:C535865
MONDO:0012662	Usher syndrome type 2D	biolink:Disease	mondo	ICD10:H35.5|DOID:0110840|OMIM:611383		Usher syndrome type IID|USHER syndrome, type IID|Usher syndrome caused by mutation in WHRN|USH2D|WHRN Usher syndrome|USHER syndrome, type IID; USH2D|Usher syndrome, type 2D	http://purl.obolibrary.org/obo/MONDO_0012662	Any Usher syndrome in which the cause of the disease is a mutation in the WHRN gene.	http://identifiers.org/omim/611383|DOID:0110840
HGNC:4174	GATA6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4174		
MONDO:0010004	EEC syndrome	biolink:Disease	mondo	GARD:0002076|DC:0000689|Orphanet:1896|UMLS:C0406704|ICD10:Q82.4|OMIM:268650|DOID:0060782|NCIT:C148261|SCTID:39788007|UMLS:CN776907	ordo_malformation_syndrome|gard_rare	ectrodactyly-ectodermal dysplasia-cleft syndrome|ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome|ectrodactyly-ectodermal dysplasia-clefting syndrome|Rudiger syndrome 1|ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome|ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome|ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate|Walker-Clodius syndrome|ectrodactyly-cleft lip/palate syndrome|RUDIGER syndrome	http://purl.obolibrary.org/obo/MONDO_0010004	EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).	UMLS:CN776907|NCIT:C148261|SNOMEDCT:39788007|UMLS:C0406704|ORPHA:1896|http://identifiers.org/omim/268650|DOID:0060782
MONDO:0012667	dilated cardiomyopathy 1W	biolink:Disease	mondo	MESH:C566954|UMLS:C1969639|DOID:0110446|ICD10:I42.0|OMIM:611407		cardiomyopathy, dilated, type 1W|cardiomyopathy, dilated, 1W; CMD1W|cardiomyopathy, dilated, 1W|VCL familial isolated dilated cardiomyopathy|familial isolated dilated cardiomyopathy caused by mutation in VCL|CMD1W|dilated cardiomyopathy type 1W	http://purl.obolibrary.org/obo/MONDO_0012667	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the VCL gene.	http://identifiers.org/omim/611407|MESH:C566954|DOID:0110446|UMLS:C1969639
HGNC:4173	GATA4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4173		
MONDO:0010003	Rowley-Rosenberg syndrome	biolink:Disease	mondo	UMLS:C0268426|SCTID:53783003|OMIM:268500|MESH:C535874|GARD:0008556	gard_rare	Growth retardation, pulmonary hypertension, and amino aciduria|Growth retardation, pulmonary hypertension, and aminoaciduria|Rowley-Rosenberg syndrome	http://purl.obolibrary.org/obo/MONDO_0010003		UMLS:C0268426|http://identifiers.org/omim/268500|MESH:C535874|SNOMEDCT:53783003
MONDO:0012668	Tented eyebrows	biolink:Disease	mondo	OMIM:611426		Tented eyebrows	http://purl.obolibrary.org/obo/MONDO_0012668		http://identifiers.org/omim/611426
HGNC:4172	GATA3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4172		
MONDO:0010006	Sandhoff disease	biolink:Disease	mondo	MESH:D012497|NCIT:C85052|ICD10:E75.0|SCTID:23849003|DOID:3323|Orphanet:796|GARD:0002521|UMLS:C0036161|OMIM:268800|ICD10:E75.01|GARD:0007604	ordo_disease|gard_rare	Sandhoff disease, infantile type|GM2 gangliosidosis, 0 variant|GM2 gangliosidosis, type 2|GM2 gangliosidosis 0 variant|Sandhoff-Jatzkewitz-Pilz disease|Hexosaminidases a and B deficiency|Hexosaminidases A and B deficiency|Sandhoff Jatzkewitz disease|Beta-hexosaminidase-beta-subunit deficiency|Sandhoff disease, juvenile type|GM2-gangliosidosis, type 2|Sandhoff disease|total hexosaminidase deficiency|Sandhoff disease, adult type|hexosaminidase A and B deficiency disease	http://purl.obolibrary.org/obo/MONDO_0010006	Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterised by central nervous system degeneration.	SNOMEDCT:23849003|MESH:D012497|UMLS:C0036161|ORPHA:796|DOID:3323|http://identifiers.org/omim/268800|NCIT:C85052
MONDO:0012665	cataract 33	biolink:Disease	mondo	Orphanet:217046|DOID:0110264|MESH:C566955|OMIM:611391|Orphanet:217052|UMLS:C3808107|ICD10:Q12.0		CTRCT33|cataract 33|cortical cataract 33|cataract 33, multiple types|BFSP1 early-onset non-syndromic cataract|early-onset non-syndromic cataract caused by mutation in BFSP1|cataract 33, cortical|cataract type 33|cataract 33, multiple types; CTRCT33|cataract 33; CTRCT33	http://purl.obolibrary.org/obo/MONDO_0012665	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the BFSP1 gene.	http://identifiers.org/omim/611391|DOID:0110264|MESH:C566955|UMLS:C3808107|ORPHA:217052|ORPHA:217046
HGNC:4171	GATA2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4171		
MONDO:0010005	saccharopinuria	biolink:Disease	mondo	ICD10:E72.3|MESH:C537218|UMLS:C0268556|ICD9:270.7|SCTID:111397004|Orphanet:3124|GARD:0000314|OMIM:268700	ordo_disease	saccharopine dehydrogenase deficiency|hyperlysinemia type II|hyperlysinemia, type 2|Alpha-aminoadipic semialdehyde synthase deficiency|saccharopinuria	http://purl.obolibrary.org/obo/MONDO_0010005	Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria.	SNOMEDCT:111397004|ORPHA:3124|UMLS:C0268556|MESH:C537218|UMLS:C2936921|http://identifiers.org/omim/268700
MONDO:0012666	asthma-related traits, susceptibility to, 6	biolink:Disease	mondo	OMIM:611403	predisposition	ASRT6|asthma-related traits, susceptibility to, type 6|asthma-related traits, susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0012666		http://identifiers.org/omim/611403
HGNC:4170	GATA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4170		
MONDO:0024638	pancreatic gastrinoma	biolink:Disease	mondo	NCIT:C95596		pancreatic gastrinoma	http://purl.obolibrary.org/obo/MONDO_0024638	A neuroendocrine tumor arising from the pancreas. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. The latter is characterized by the presence of peptic ulcer, gastroesophageal reflux disease, abdominal pain, diarrhea, and malabsorption.	NCIT:C95596
MONDO:0024637	malignant soft tissue neoplasm	biolink:Disease	mondo	NCIT:C4867|SCTID:269469005		malignant tumor of the soft tissue|malignant tumor of soft tissue|malignant soft tissue neoplasm|malignant neoplasm of the soft tissue|malignant neoplasm of soft tissue|malignant soft tissue tumor	http://purl.obolibrary.org/obo/MONDO_0024637	A malignant neoplasm arising exclusively from the soft tissues.	SNOMEDCT:269469005|NCIT:C4867
MONDO:0000669	color agnosia	biolink:Disease	mondo	DOID:0060139			http://purl.obolibrary.org/obo/MONDO_0000669	An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it.	DOID:0060139
NCBITaxon:41828	Chironomoidea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_41828		
MONDO:0024639	gastric enterochromaffin cell serotonin-producing neuroendocrine tumor	biolink:Disease	mondo	UMLS:C3274137|NCIT:C27443		gastric EC cell serotonin-producing NET|gastric enterochromaffin cell serotonin-producing neuroendocrine tumor|gastric EC-cell serotonin-producing neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0024639	A well differentiated neuroendocrine tumor that arises from the stomach. It produces serotonin and it may occasionally be found in association with a carcinoid syndrome.	NCIT:C27443|UMLS:C3274137
MONDO:0000668	autotopagnosia	biolink:Disease	mondo	DOID:0060138			http://purl.obolibrary.org/obo/MONDO_0000668	An agnosia that is a loss of the ability to orient parts of the body.	DOID:0060138
MONDO:0012660	susceptibility to visceral leishmaniasis, 2	biolink:Disease	mondo	OMIM:611381	predisposition	KAZA2|kala-AZAR, susceptibility to, 2; KAZA2|leishmaniasis, visceral, susceptibility to, 2|kala-AZAR, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0012660		http://identifiers.org/omim/611381
MONDO:0024630	defective phagocytic cell chemotaxis	biolink:Disease	mondo	SCTID:234580003|ICD9:279.8|UMLS:C0398735		defective phagocytic cell chemotaxis	http://purl.obolibrary.org/obo/MONDO_0024630		UMLS:C0398735|SNOMEDCT:234580003
CHEBI:28616	carbamic acid	biolink:ChemicalSubstance	mondo			Aminoameisensaeure|Carbamic acid|CARBAMIC ACID|carbamic acid|Carbamate|Carbamidsaeure|Aminoformic acid	http://purl.obolibrary.org/obo/CHEBI_28616	A one-carbon compound that is ammonia in which one of the hydrogens is replaced by a carboxy group. Although carbamic acid derivatives are common, carbamic acid itself has never been synthesised.	
MONDO:0000685	visual agnosia (disease)	biolink:Disease	mondo	NCIT:C35276|SCTID:25762009|DOID:0060155|HP:0030222		visual agnosia|visuoperceptual agnosia	http://purl.obolibrary.org/obo/MONDO_0000685	An inability to recognize or interpret objects by sight.	NCIT:C35276|SNOMEDCT:25762009|DOID:0060155
MONDO:0000684	verbal auditory agnosia	biolink:Disease	mondo	DOID:0060154			http://purl.obolibrary.org/obo/MONDO_0000684	An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful.	DOID:0060154
MONDO:0024632	defective phagocytic cell opsonization	biolink:Disease	mondo	UMLS:C0398733|SCTID:234578009		defective phagocytic cell opsonization	http://purl.obolibrary.org/obo/MONDO_0024632		SNOMEDCT:234578009|UMLS:C0398733
MONDO:0000683	topographical agnosia	biolink:Disease	mondo	SCTID:83824009|DOID:0060153			http://purl.obolibrary.org/obo/MONDO_0000683	An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects.	DOID:0060153|SNOMEDCT:83824009
NCBITaxon:41820	Culicoides <genus>	organism taxon	mondo	GC_ID:1		punkies|Culicoides	http://purl.obolibrary.org/obo/NCBITaxon_41820		
MONDO:0000682	time agnosia	biolink:Disease	mondo	DOID:0060152			http://purl.obolibrary.org/obo/MONDO_0000682	An agnosia that is a loss of the ability to comprehend the succession and duration of events.	DOID:0060152
MONDO:0024634	large intestine disease	biolink:Disease	mondo	SCTID:119523007|UMLS:C0341321		disorder of large intestine|disease of large intestine|disorder of large intestine|disease or disorder of large intestine|large intestine disease or disorder	http://purl.obolibrary.org/obo/MONDO_0024634	A disease that involves the large intestine.	SNOMEDCT:119523007|UMLS:C0341321
NCBITaxon:41827	Culicoidea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_41827		
MONDO:0000689	obsolete survival motor neuron spinal muscular atrophy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000689		
MONDO:0024633	hypertensive renal disease	biolink:Disease	mondo	ICD9:403.90|NCIT:C4757|SCTID:38481006		hypertensive nephropathy|hypertensive renal disease|hypertensive nephropathy	http://purl.obolibrary.org/obo/MONDO_0024633	Kidney damage that results from chronically elevated blood pressure; complications include glomerular damage resulting in proteinuria and hematuria.	NCIT:C4757|SNOMEDCT:38481006
MONDO:0000688	inherited organic acidemia	biolink:Disease	mondo	GARD:0009433|UMLS:C1263739|NCIT:C101334|ICD9:277.89|Orphanet:289899|DOID:0060159	ordo_group_of_disorders|gard_rare	organic aciduria|organic acidemia|inborn error of organic acid metabolic process|disorder of organic acid metabolism|organic acid metabolism disorder|inborn organic acid metabolic process disorder|rare inborn error of organic acid metabolic process	http://purl.obolibrary.org/obo/MONDO_0000688	An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage.	NCIT:C101334|DOID:0060159|UMLS:C1263739|ORPHA:289899
HP:0011400	Abnormal CNS myelination	biolink:PhenotypicFeature	mondo	UMLS:C4021152		Abnormal formation of myelin sheaths	http://purl.obolibrary.org/obo/HP_0011400	An abnormality of myelination of nerves in the central nervous system.	
MONDO:0024636	inflammation of heart layer	biolink:Disease	mondo	ICD9:429.89|SCTID:399617002		heart layer inflammation|carditis	http://purl.obolibrary.org/obo/MONDO_0024636	An inflammatory disease involving a pathogenic inflammatory response in the heart layer.	SNOMEDCT:399617002
MONDO:0000687	diffuse alopecia areata	biolink:Disease	mondo	MESH:C531609|DOID:0060157|SCTID:46586006		marginal alopecia|Cazenave's vitiligo|alopecia celsi|patchy alopecia|Jonston's alopecia|Celsus' vitiligo	http://purl.obolibrary.org/obo/MONDO_0000687	An alopecia areata that involves diffuse loss of hair over the whole scalp.	MESH:C531609|SNOMEDCT:46586006|DOID:0060157
MONDO:0000686	alexia without agraphia	biolink:Disease	mondo	DOID:0060156|MESH:D020237		without agraphia, alexia|agraphia, alexia without|agnosia, visual verbal|visual verbal Agnosias|Pure alexias|Blindnesses, Pure Word|blindness, Pure Word|verbal agnosia, visual|Word blindness, Pure|alexia syndrome without agraphia|without Agraphias, alexia|Agraphias, alexia without|Word Blindnesses, Pure|Pure alexia without agraphia|Pure Word blindness|visual verbal agnosia|Pure alexia|alexia without agraphia|Pure Word Blindnesses|alexia without Agraphias|Agnosias, visual verbal|alexias, Pure|verbal Agnosias, visual	http://purl.obolibrary.org/obo/MONDO_0000686	Loss of the power to comprehend written materials despite preservation of the ability to write (i.e., alexia without agraphia). This condition is generally attributed to lesions that 'disconnect' the visual cortex of the non-dominant hemisphere from language centers in the dominant hemisphere. This may occur when a dominant visual cortex injury is combined with underlying white matter lesions that involve crossing fibers from the occipital lobe of the opposite hemisphere. (From Adams et al., Principles of Neurology, 6th ed, p483)	DOID:0060156|MESH:D020237
MONDO:0024635	small intestine disease	biolink:Disease	mondo	UMLS:C0341268|SCTID:119522002		small intestine disease or disorder|disorder of small intestine|disease of small intestine|disorder of small intestine|disease or disorder of small intestine	http://purl.obolibrary.org/obo/MONDO_0024635	A disease that involves the small intestine.	SNOMEDCT:119522002|UMLS:C0341268
MONDO:0009019	congenital hereditary endothelial dystrophy of cornea	biolink:Disease	mondo	Orphanet:293603|ICD10:H18.5|DOID:0060649|OMIM:217700|GARD:0006196|MESH:C536439	ordo_disease|gard_rare	corneal endothelial dystrophy|corneal endothelial dystrophy 2, autosomal recessive; CHED2|corneal endothelial dystrophy 2, autosomal recessive|CHEDII|Maumenee corneal dystrophy|congenital hereditary endothelial dystrophy of the cornea|corneal dystrophy, congenital hereditary endothelial|CHED2|congenital hereditary endothelial dystrophy type II|autosomal recessive congenital hereditary endothelial dystrophy|corneal endothelial dystrophy; CHED|corneal endothelial dystrophy 2, autosomal recessive, formerly|autosomal recessive CHED|congenital hereditary endothelial dystrophy type 2|CHED|CHED2, formerly|corneal endothelial dystrophy type 2|corneal endothelial dystrophy 2|infantile hereditary endothelial dystrophy|congenital hereditary endothelial dystrophy of cornea	http://purl.obolibrary.org/obo/MONDO_0009019	Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision.	MESH:C536439|DOID:0060649|ORPHA:293603|http://identifiers.org/omim/217700
MONDO:0012649	obsolete FTSD	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0012649		
HGNC:4180	GBE1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4180		
MONDO:0009018	central cloudy dystrophy of François	biolink:Disease	mondo	MESH:C563262|ICD10:H18.5|UMLS:C1622427|SCTID:419074008|Orphanet:98972|OMIM:217600	ordo_disease	CCDF|central cloudy dystrophy of Francois|central cloudy corneal dystrophy of François|central cloudy dystrophy of Francois; CCDF|corneal dystrophy, central type|central cloudy dystrophy of François	http://purl.obolibrary.org/obo/MONDO_0009018	Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision.	ORPHA:98972|MESH:C563262|SNOMEDCT:419074008|http://identifiers.org/omim/217600|UMLS:C1622427
MONDO:0009017	corneal degeneration, band-shaped spheroid	biolink:Disease	mondo	OMIM:217520		corneal degeneration, band-shaped spheroid	http://purl.obolibrary.org/obo/MONDO_0009017		http://identifiers.org/omim/217520
MONDO:0012647	obsolete generalized epilepsy with febrile seizures plus, type 3	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0012647		
MONDO:0009016	band keratopathy	biolink:Disease	mondo	MESH:C562399|NCIT:C118765|UMLS:C0155120|OMIM:217500|COHD:436695|ICD9:371.43|DOID:11164|ICD10:H18.42|SCTID:35055000		corneal dystrophy, band-SHAPED|band keratopathy|band-shaped keratopathy	http://purl.obolibrary.org/obo/MONDO_0009016	The deposition of calcium on the cornea, resulting in pain and decreased visual acuity.	SNOMEDCT:35055000|UMLS:C0155120|DOID:11164|MESH:C562399|http://identifiers.org/omim/217500|NCIT:C118765
MONDO:0012648	isobutyryl-CoA dehydrogenase deficiency	biolink:Disease	mondo	OMIM:611283|Orphanet:79159|ICD10:E71.1|UMLS:C1969809|NCIT:C129975|GARD:0010223|MESH:C535541	ordo_disease|gard_rare	IBD deficiency|isobutyryl-CoA dehydrogenase deficiency|isobutyric aciduria|Acad8 deficiency|acyl-CoaA dehydrogenase family, member 8, deficiency of|acyl-Coa dehydrogenase family, member 8, deficiency of	http://purl.obolibrary.org/obo/MONDO_0012648	Isobutyryl-CoA dehydrogenase deficiency is an inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).	UMLS:C1969809|http://identifiers.org/omim/611283|NCIT:C129975|MESH:C535541|ORPHA:79159
MONDO:0009015	corneal dystrophy-perceptive deafness syndrome	biolink:Disease	mondo	MESH:C535473|SCTID:720749004|DOID:0111620|Orphanet:1490|OMIM:217400|GARD:0001529|UMLS:C1857572|ICD10:H18.5	ordo_malformation_syndrome	CDPD|corneal dystrophy and sensorineural deafness|corneal dystrophy and perceptive deafness|corneal dystrophy and perceptive deafness; CDPD|corneal dystrophy with progressive deafness|Cdpd1|Harboyan syndrome|congenital corneal dystrophy, progressive sensorineural deafness	http://purl.obolibrary.org/obo/MONDO_0009015	Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss.	DOID:0111620|SNOMEDCT:720749004|MESH:C535473|http://identifiers.org/omim/217400|UMLS:C1857572|ORPHA:1490
MONDO:0000681	tactile agnosia	biolink:Disease	mondo	DOID:0060151			http://purl.obolibrary.org/obo/MONDO_0000681	An agnosia that is a loss of the ability to recognize or identify objects by touch alone.	DOID:0060151
MONDO:0000680	astereognosia (disease)	biolink:Disease	mondo	HP:0010527|DOID:0060150		somatosensory agnosia|astereognosia	http://purl.obolibrary.org/obo/MONDO_0000680	An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight.	DOID:0060150
MONDO:0009014	cornea plana 2	biolink:Disease	mondo	OMIM:217300|UMLS:C1857574|MESH:C565677		cornea plana 2, autosomal recessive; CNA2|cornea plana 2; CNA2|cornea plana 2, autosomal recessive|cornea plana 2|cornea plana caused by mutation in KERA|cornea plana type 2|CNA2|KERA cornea plana	http://purl.obolibrary.org/obo/MONDO_0009014	Any cornea plana in which the cause of the disease is a mutation in the KERA gene.	MESH:C565677|http://identifiers.org/omim/217300|UMLS:C1857574
MONDO:0009013	convulsive disorder, familial, with prenatal or early onset	biolink:Disease	mondo	OMIM:217200|UMLS:C1857575|MESH:C565678		convulsive disorder, familial, with prenatal or early onset	http://purl.obolibrary.org/obo/MONDO_0009013		http://identifiers.org/omim/217200|UMLS:C1857575|MESH:C565678
HGNC:21253	LHFPL5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21253		
MONDO:0009012	multiple pterygium-malignant hyperthermia syndrome	biolink:Disease	mondo	ICD10:Q87.8|GARD:0003361|OMIM:217150|MESH:C565679|UMLS:C1857576|Orphanet:2215	ordo_malformation_syndrome|gard_rare	malignant hyperthermia arthrogryposis torticollis|malignant hyperthermia - arthrogryposis - torticollis|froster-Iskenius-Waterson-Hall syndrome|froster-Iskenius-Waterson syndrome|malignant hyperthermia-arthrogryposis-torticollis syndrome|contractures, congenital, torticollis, and malignant hyperthermia	http://purl.obolibrary.org/obo/MONDO_0009012	Malignant hyperthermia-arthrogryposis-torticollisis an extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988.	http://identifiers.org/omim/217150|ORPHA:2215|UMLS:C1857576|MESH:C565679
MONDO:0012652	autosomal recessive limb-girdle muscular dystrophy type 2L	biolink:Disease	mondo	MESH:C566968|DOID:0110284|OMIM:611307|UMLS:C1969785|Orphanet:206549|GARD:0012536|ICD10:G71.0	ordo_disease	muscular dystrophy, limb-girdle, type 2L; LGMD2L|autosomal recessive limb-girdle muscular dystrophy caused by mutation in ANO5|ANO5 autosomal recessive limb-girdle muscular dystrophy|limb-girdle muscular dystrophy type 2L|muscular dystrophy, limb-girdle, type 2L|LGMD2L	http://purl.obolibrary.org/obo/MONDO_0012652	Autosomal recessive limb-girdle muscular dystrophy type 2L (LGMD2L) is a form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.	http://identifiers.org/omim/611307|MESH:C566968|DOID:0110284|ORPHA:206549|UMLS:C1969785
MONDO:0009011	constriction rings syndrome	biolink:Disease	mondo	OMIM:217100|ICD10:Q79.8|Orphanet:295000	ordo_malformation_syndrome	terminal transverse defects of arm|Adam Complex|CONSTRICTING bands, congenital|constriction band syndrome|amputation, congenital|Streeter dysplasia|Streeter anomaly|congenital ring constrictions|amniotic band sequence	http://purl.obolibrary.org/obo/MONDO_0009011	Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise.	http://identifiers.org/omim/217100|ORPHA:295000
MONDO:0012653	PHPVAD	biolink:Disease	mondo	UMLS:C1969784|OMIM:611308		persistent hyperplastic primary vitreous, autosomal dominant; PHPVAD|PHPVAD|persistent hyperplastic primary vitreous, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0012653		http://identifiers.org/omim/611308|UMLS:C1969784
MONDO:0009010	aortic arch interruption	biolink:Disease	mondo	ICD10:Q20.1|ICD9:745.11|MedDRA:10022599|ICD10:Q25.21|ICD10:Q25.4|GARD:0000740|Orphanet:2299	gard_rare|ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0009010	Aortic arch interruption is a rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths.	UMLS:C0152419|ORPHA:2299|MEDDRA:10022599
MONDO:0012650	Cernunnos-XLF deficiency	biolink:Disease	mondo	ICD10:D81.1|SCTID:720853005|Orphanet:169079|UMLS:C1969799|MESH:C566970|OMIM:611291	ordo_disease	combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome|severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation|SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with microcephaly, Growth retardation, and sensitivity to ionizing radiation|severe combined immunodeficiency with sensitivity to ionizing radiation due to Nhej1 deficiency|Nhej1 syndrome|Cernunnos deficiency|SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, and sensitivity to ionizing radiation due to Nhej1 deficiency|Cernunnos XLFD|NHEJ1 deficiency	http://purl.obolibrary.org/obo/MONDO_0012650	Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.	http://identifiers.org/omim/611291|MESH:C566970|ORPHA:169079|UMLS:C1969799|SNOMEDCT:720853005
MONDO:0012651	spastic ataxia 2	biolink:Disease	mondo	MESH:C566969|ICD10:G11.4|DOID:0050941|Orphanet:397946|UMLS:C1969796|OMIM:611302	ordo_disease	spastic ataxia 2, autosomal recessive|spastic ataxia caused by mutation in KIF1C|KIF1C spastic ataxia|SPG58|SPAX2|spastic ataxia type 2|autosomal recessive spastic paraplegia type 58|autosomal recessive spastic ataxia type 2|spastic ataxia 2, autosomal recessive; SPAX2	http://purl.obolibrary.org/obo/MONDO_0012651	Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs.	http://identifiers.org/omim/611302|MESH:C566969|DOID:0050941|UMLS:C1969796|ORPHA:397946
MONDO:0012656	lethal congenital contracture syndrome 3	biolink:Disease	mondo	ICD10:Q68.8|OMIM:611369|UMLS:C4275144|UMLS:C1969655|Orphanet:137783|GARD:0012644|DOID:0060653|MESH:C566961|SCTID:715420005	ordo_malformation_syndrome|gard_rare	lethal congenital contracture syndrome 3; LCCS3|lethal congenital contracture syndrome 3|lethal congenital contracture syndrome caused by mutation in PIP5K1C|lethal congenital contracture syndrome type 3|LCCS3|Israeli Bedouin type B multiple contracture syndrome|PIP5K1C lethal congenital contracture syndrome|multiple contracture syndrome, Israeli Bedouin type B	http://purl.obolibrary.org/obo/MONDO_0012656	Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement.	DOID:0060653|SNOMEDCT:715420005|UMLS:C4275144|ORPHA:137783|http://identifiers.org/omim/611369|MESH:C566961|UMLS:C1969655
MONDO:0012657	Mungan syndrome	biolink:Disease	mondo	MESH:C548078|GARD:0010687|OMIM:611376		visceral neuromyopathy familial with pseudoobstruction megaduodenum Barrett esophagus and cardiac abnormalities|pseudoobstruction chronic idiopathic intestinal with Barrett esophagus and cardiac abnormalities|pseudoobstruction, chronic idiopathic intestinal, with Barrett esophagus and Cardiac abnormalities|visceral Neuromyopathy, familial, with pseudoobstruction, Megaduodenum, Barrett esophagus, and Cardiac abnormalities|MUNGAN syndrome; MGS|MGS|MUNGAN syndrome	http://purl.obolibrary.org/obo/MONDO_0012657		http://identifiers.org/omim/611376|MESH:C548078
MONDO:0012654	atrial heart septal defect 4	biolink:Disease	mondo	UMLS:C1969657|OMIM:611363|MESH:C566963|DOID:0110109|ICD10:Q21.1		ASD4|TBX20 atrial heart septal defect|atrial septal defect type 4|atrial septal defect 4; ASD4|atrial heart septal defect caused by mutation in TBX20|atrial septal defect 4|atrial heart septal defect type 4	http://purl.obolibrary.org/obo/MONDO_0012654	Any atrial heart septal defect in which the cause of the disease is a mutation in the TBX20 gene.	http://identifiers.org/omim/611363|DOID:0110109|MESH:C566963|UMLS:C1969657
MONDO:0012655	EJM4	biolink:Disease	mondo	UMLS:C1969656|DOID:0111327|OMIM:611364	predisposition	EJM4|myoclonic epilepsy, juvenile, susceptibility to, 4|myoclonic epilepsy, juvenile, susceptibility to, 4; EJM4	http://purl.obolibrary.org/obo/MONDO_0012655		http://identifiers.org/omim/611364|DOID:0111327|UMLS:C1969656
MONDO:0024627	phagocytic cell dysfunction	biolink:Disease	mondo	UMLS:C0398732|SCTID:302874002		defective phagocytosis|phagocytic cell dysfunction	http://purl.obolibrary.org/obo/MONDO_0024627		SNOMEDCT:302874002|UMLS:C0398732
NCBITaxon:41819	Ceratopogonidae	organism taxon	mondo	GC_ID:1		biting midges|no-see-ums	http://purl.obolibrary.org/obo/NCBITaxon_41819		
MONDO:0024626	defective phagocytic cell engulfment	biolink:Disease	mondo	SCTID:234585008|UMLS:C0398742		defective phagocytic cell killing	http://purl.obolibrary.org/obo/MONDO_0024626		SNOMEDCT:234585008|UMLS:C0398742
MONDO:0000679	social emotional agnosia	biolink:Disease	mondo	DOID:0060149		expressive agnosia	http://purl.obolibrary.org/obo/MONDO_0000679	An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction.	DOID:0060149
HGNC:4189	GCDH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4189		
MONDO:0000652	integumentary system benign neoplasm	biolink:Disease	mondo	DOID:0060121		integumental system benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000652	A benign neoplasm that involves the integumental system.	DOID:0060121
MONDO:0000651	thoracic disease	biolink:Disease	mondo	NCIT:C35742|SCTID:118946009|MESH:D013896|DOID:0060118|SCTID:609622007|UMLS:C3661979|UMLS:C0039978		disorder of thoracic segment of trunk|thoracic disease|disorder of thorax|thoracic segment of trunk disease|thoracic disorder|disease or disorder of thoracic segment of trunk|disease of thoracic segment of trunk|thoracic segment of trunk disease or disorder	http://purl.obolibrary.org/obo/MONDO_0000651	A non-neoplastic or neoplastic disorder that affects the thorax and/or the organs of the thoracic cavity. Representative examples include pleural infection, mediastinitis, thymoma, mediastinal lymphoma, and pleural mesothelioma.	UMLS:C3661979|SNOMEDCT:609622007|UMLS:C0039978|NCIT:C35742|MESH:D013896|SNOMEDCT:118946009|DOID:0060118
MONDO:0000650	peritoneal benign neoplasm	biolink:Disease	mondo	DOID:0060117|NCIT:C8612|UMLS:C0496874		benign peritoneal neoplasm|peritoneum benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000650	A non-metastasizing neoplasm that arises from the peritoneal cavity. Representative examples include adenomatoid tumor and disseminated peritoneal leiomyomatosis.	UMLS:C0496874|NCIT:C8612|DOID:0060117
MONDO:0024621	serous cystadenocarcinoma	biolink:Disease	mondo	NCIT:C3778|ICDO:8441/3		serous cystadenocarcinoma|serous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0024621	A malignant serous cystic neoplasm usually involving the ovary or the pancreas. It is characterized by the presence of invasive malignant glandular epithelial cells which often form papillary structures.	NCIT:C3778
MONDO:0024620	meningitis caused by poliovirus	biolink:Disease	mondo	SCTID:721765009|UMLS:C4303134		meningitis caused by human poliovirus|polio virus meningitis	http://purl.obolibrary.org/obo/MONDO_0024620		UMLS:C4303134|SNOMEDCT:721765009
MONDO:0024623	otorhinolaryngologic disease	biolink:Disease	mondo	UMLS:C0395797|ICD9:478.19|MESH:D010038|UMLS:C0029896|SCTID:232208008|NCIT:C118420		ENT diseases|disease, ENT|otolaryngologic disease|disease, otolaryngological|diseases, otorhinolaryngologic|disease, otorhinolaryngological|otolaryngologic diseases|ENT disease|ear/nose/throat disease|otolaryngological disease|otorhinolaryngological disease|diseases, otorhinolaryngological|diseases, otolaryngologic|ear, nose or throat disorder|otolaryngologic disorder|ear, nose and throat disorder|diseases, ENT|otorhinolaryngologic disease|disease, otorhinolaryngologic|otolaryngological diseases|diseases, otolaryngological|otorhinolaryngological diseases|disease, otolaryngologic	http://purl.obolibrary.org/obo/MONDO_0024623	Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases.	UMLS:C0395797|SNOMEDCT:232208008|UMLS:C0029896|NCIT:C118420|MESH:D010038
MONDO:0000656	obsolete alpha chain disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000656		
MONDO:0024622	thyroid gland adenocarcinoma	biolink:Disease	mondo	NCIT:C27380|DOID:0080524		thyroid adenocarcinoma|thyroid gland adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0024622	An adenocarcinoma arising from the follicular cells of the thyroid gland. According to the degree of differentiation, it is classified either as differentiated carcinoma (extensive evidence of follicular cell differentiation), or poorly differentiated carcinoma (limited evidence of follicular cell differentiation).	NCIT:C27380|DOID:0080524
MONDO:0000655	obsolete heavy chain disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000655		
MONDO:0024625	disorder of lacrimal gland	biolink:Disease	mondo	SCTID:95766002|UMLS:C0235228		disorder of lacrimal gland|disease or disorder of lacrimal gland|disease of lacrimal gland|lacrimal gland disease|lacrimal gland disease or disorder	http://purl.obolibrary.org/obo/MONDO_0024625	A disease that involves the lacrimal gland.	SNOMEDCT:95766002|UMLS:C0235228
MONDO:0000654	benign connective and soft tissue neoplasm	biolink:Disease	mondo	NCIT:C53684|COHD:374882|DOID:0060123		benign mesenchymal cell neoplasm|soft tissue benign neoplasm|benign tumor of the soft tissue and bone|tumor of the soft tissue|neoplasm of soft tissue|benign neoplasm of the soft tissue and bone|benign connective and soft tissue neoplasm|neoplasm of soft tissues|benign connective and soft tissue tumor|connective and soft tissue neoplasm, benign|connective tissue benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000654	A non-metastasizing neoplasm that arises from the connective and soft tissue. Representative examples include lipoma, leiomyoma, fibroma, and osteoma.	NCIT:C53684|DOID:0060123
MONDO:0000653	integumentary system cancer	biolink:Disease	mondo	DOID:0060122		malignant neoplasm of integumental system|cancer of integumental system|integumental system cancer|malignant integumental system neoplasm	http://purl.obolibrary.org/obo/MONDO_0000653	A malignant neoplasm involving the integumental system	DOID:0060122
MONDO:0024624	obsolete atrophy of lacrimal gland	biolink:Disease	mondo	SCTID:91951001|UMLS:C0339119		degenerative disorder of lacrimal gland|lacrimal gland degenerative disorder|lacrimal atrophy|atrophy of lacrimal gland	http://purl.obolibrary.org/obo/MONDO_0024624	A degenerative disorder that involves the lacrimal gland.	SNOMEDCT:91951001|UMLS:C0339119
MONDO:0012638	microphthalmia-brain atrophy syndrome	biolink:Disease	mondo	SCTID:720010009|GARD:0009292|ICD10:Q11.2|Orphanet:77299|OMIM:611222|MESH:C566985	gard_rare|ordo_malformation_syndrome	microphthalmia and brain atrophy|MOBA|syndromic microphthalmia type 10|MOBA syndrome|microphthalmia, syndromic 10|microphthalmia syndromic 10|microphthalmia, syndromic 10; MCOPS10|MCOPS10	http://purl.obolibrary.org/obo/MONDO_0012638	Microphthalmia-brain atrophy (MOBA) syndrome is a rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter.	MESH:C566985|ORPHA:77299|SNOMEDCT:720010009|http://identifiers.org/omim/611222
MONDO:0012639	hereditary spastic paraplegia 18	biolink:Disease	mondo	ICD10:G11.4|GARD:0004922|Orphanet:209951|DOID:0110771|MESH:C567628|OMIM:611225|SCTID:732932004	ordo_disease	autosomal recessive complex spastic paraplegia caused by mutation in ERLIN2|spastic paraplegia 18, autosomal recessive|IDMDC|autosomal recessive spastic paraplegia type 18|SPG18|hereditary spastic paraplegia type 18|spastic paraplegia 18|intellectual disability, motor dysfunction and joint contractures|spastic paraplegia 18, autosomal recessive; SPG18|ERLIN2 autosomal recessive complex spastic paraplegia|autosomal recessive spastic paraplegia 18|intellectual disability, motor dysfunction, and Joint contractures	http://purl.obolibrary.org/obo/MONDO_0012639	A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.	ORPHA:209951|UMLS:C2749936|DOID:0110771|SNOMEDCT:732932004|MESH:C567628|http://identifiers.org/omim/611225
MONDO:0012636	restless legs syndrome, susceptibility to, 6	biolink:Disease	mondo	OMIM:611185|GARD:0010273	predisposition	restless legs syndrome, susceptibility to, 6|periodic limb movements in sleep|RLS6|restless legs syndrome, susceptibility to, 6; RLS6	http://purl.obolibrary.org/obo/MONDO_0012636		http://identifiers.org/omim/611185
MONDO:0012637	COG1-CDG	biolink:Disease	mondo	Orphanet:263508|GARD:0010226|OMIM:611209|ICD10:E77.8|DOID:0070259|MESH:C535756|SCTID:718750004	ordo_disease	CDG2G|CDG IIg|congenital disorder of glycosylation, type IIg|congenital disorder of glycosylation type IIg|congenital disorder of glycosylation, type IIg; CDG2G|CDG syndrome type IIg|congenital disorder of glycosylation type 2g|COG1-CDG (CDG-IIg)|CDG 2G|CDG-IIg|carbohydrate deficient glycoprotein syndrome type IIg|Cdgii/Cog1 Cerebrocostomandibular-like syndrome	http://purl.obolibrary.org/obo/MONDO_0012637	COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.	MESH:C535756|ORPHA:263508|DOID:0070259|SNOMEDCT:718750004|http://identifiers.org/omim/611209
MONDO:0012641	restless legs syndrome, susceptibility to, 5	biolink:Disease	mondo	GARD:0010272|OMIM:611242	predisposition	restless legs syndrome, susceptibility to, 5|RLS5|RLS 5|restless legs syndrome, susceptibility to, 5; RLS5	http://purl.obolibrary.org/obo/MONDO_0012641		http://identifiers.org/omim/611242
NCBITaxon:28845	Diphyllobothrium dendriticum	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_28845		
MONDO:0012642	major affective disorder 4	biolink:Disease	mondo	MESH:C567073|OMIM:611247		MAFD4|major affective disorder 4|bipolar affective disorder|MAJOR affective disorder 4; MAFD4	http://purl.obolibrary.org/obo/MONDO_0012642		MESH:C567073|http://identifiers.org/omim/611247
HGNC:4198	GCM2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4198		
NCBITaxon:28843	Diphyllobothriidae	organism taxon	mondo	GC_ID:1		Ligulidae	http://purl.obolibrary.org/obo/NCBITaxon_28843		
MONDO:0012640	Charcot-Marie-Tooth disease type 4J	biolink:Disease	mondo	NCIT:C134954|SCTID:720638000|UMLS:C1970011|DOID:0110184|Orphanet:139515|OMIM:611228|MESH:C566984|GARD:0012443|ICD10:G60.0	ordo_disease|gard_rare	Charcot-Marie-Tooth disease, type 4J|Charcot-Marie-Tooth disease, autosomal recessive, type 4J|FIG4 Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4 caused by mutation in FIG4|CMT4J|Charcot-Marie-Tooth disease, type 4J; CMT4J|autosomal recessive Charcot-Marie-Tooth disease type 4J	http://purl.obolibrary.org/obo/MONDO_0012640	Charcot-Marie-Tooth disease, type 4J (CMT4J) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.	ORPHA:139515|SNOMEDCT:720638000|UMLS:C1970011|NCIT:C134954|http://identifiers.org/omim/611228|MESH:C566984|DOID:0110184
NCBITaxon:28844	Diphyllobothrium	organism taxon	mondo	GC_ID:1		fish tapeworms|broad tapeworm|broad tapeworms	http://purl.obolibrary.org/obo/NCBITaxon_28844		
MONDO:0012645	GLC1N	biolink:Disease	mondo	OMIM:611274|UMLS:C1969812|MESH:C566977		JOAG1N|glaucoma 1, open angle, N|glaucoma 1, open angle, N; GLC1N|GLC1N	http://purl.obolibrary.org/obo/MONDO_0012645		UMLS:C1969812|http://identifiers.org/omim/611274|MESH:C566977
HGNC:4195	GCK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4195		
MONDO:0012646	GLC1H	biolink:Disease	mondo	UMLS:C1969811|MESH:C566976|OMIM:611276		glaucoma 1, open angle, H; GLC1H|GLC1H|glaucoma 1, open angle, H	http://purl.obolibrary.org/obo/MONDO_0012646		UMLS:C1969811|http://identifiers.org/omim/611276|MESH:C566976
MONDO:0012643	hereditary spastic paraplegia 32	biolink:Disease	mondo	DOID:0110783|UMLS:C1970009|SCTID:726606003|MESH:C566983|Orphanet:171622|UMLS:C4511958|GARD:0012749|ICD10:G11.4|OMIM:611252	ordo_disease	spastic paraplegia 32, autosomal recessive|spastic paraplegia 32|SPG32|hereditary spastic paraplegia type 32|autosomal recessive spastic paraplegia type 32|spastic paraplegia 32, autosomal recessive; SPG32|autosomal recessive spastic paraplegia 32	http://purl.obolibrary.org/obo/MONDO_0012643	Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.	UMLS:C1970009|UMLS:C4511958|ORPHA:171622|http://identifiers.org/omim/611252|MESH:C566983|SNOMEDCT:726606003|DOID:0110783
HGNC:4193	GCH1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4193		
MONDO:0012644	asphyxiating thoracic dystrophy 2	biolink:Disease	mondo	OMIM:611263|DOID:0110086|UMLS:C1970005|MESH:C566982|ICD10:Q77.2		SRTD2|short-rib thoracic dysplasia 2 with or without polydactyly; SRTD2|Jeune syndrome caused by mutation in IFT80|asphyxiating thoracic dystrophy type 2|asphyxiating thoracic dystrophy 2|ATD2|short-rib thoracic dysplasia 2 with or without polydactyly|IFT80 Jeune syndrome	http://purl.obolibrary.org/obo/MONDO_0012644	Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene.	UMLS:C1970005|http://identifiers.org/omim/611263|DOID:0110086|MESH:C566982
HGNC:4192	GCGR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4192		
HGNC:21219	CILK1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21219		
MONDO:0000649	sensory system cancer	biolink:Disease	mondo	DOID:0060116		malignant sensory system neoplasm|malignant neoplasm of sensory system|sensory system cancer|cancer of sensory system	http://purl.obolibrary.org/obo/MONDO_0000649	A malignant neoplasm involving the sensory system	DOID:0060116
MONDO:0024616	tympanitis	biolink:Disease	mondo	UMLS:C0027134|SCTID:14852000		inflammation of tympanic membrane|tympanic membrane inflammation|myringitis	http://purl.obolibrary.org/obo/MONDO_0024616	An inflammatory disease involving a pathogenic inflammatory response in the tympanic membrane.	UMLS:C0027134|SNOMEDCT:14852000
MONDO:0000648	nervous system benign neoplasm	biolink:Disease	mondo	ICD9:225.8|NCIT:C4789|ICD9:225.9|UMLS:C0497550|SCTID:92247009|DOID:0060115|COHD:373432		benign tumor of nervous system|benign tumor of the nervous system|benign neoplasm of nervous system|benign nervous system tumor|benign neoplasm of the nervous system|nervous system neoplasm, benign|benign nervous system neoplasm|nervous system benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000648	Abnormal growth of cells in the nervous system without evidence of malignant characteristics. Unlike other organ systems, tumors in the central nervous system can have benign histological characteristics but still have life threatening effects due to their location within the neuraxis (e.g., brainstem gliomas).	DOID:0060115|UMLS:C0497550|NCIT:C4789|SNOMEDCT:92247009
MONDO:0024615	T-cell and NK-cell neoplasm	biolink:Disease	mondo	UMLS:C1336554|NCIT:C27908		T-cell neoplasm|T-cell and NK-cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0024615		NCIT:C27908|UMLS:C1336554
MONDO:0024618	poliovirus infection	biolink:Disease	mondo	SCTID:721764008|UMLS:C4303135		human poliovirus infection|infection caused by human poliovirus|Enterovirus C infectious disease|Enterovirus C caused disease or disorder|Enterovirus C disease or disorder	http://purl.obolibrary.org/obo/MONDO_0024618	An disease or disorder caused by infection with Enterovirus C.	UMLS:C4303135|SNOMEDCT:721764008
MONDO:0000647	benign vaginal neoplasm	biolink:Disease	mondo	COHD:201244|NCIT:C3610|ICD9:221.1|UMLS:C0154002|DOID:0060114|SCTID:92473001		benign vaginal neoplasm|vaginal benign neoplasm|benign vaginal tumor|vagina female reproductive organ benign neoplasm|vagina benign neoplasm|benign tumor of vagina|benign vaginal neoplasms|benign tumor of the vagina|benign neoplasm of vagina|benign neoplasm of the vagina	http://purl.obolibrary.org/obo/MONDO_0000647	A non-metastasizing neoplasm that arises from the vagina. Representative examples include squamous papilloma and melanocytic nevus.	DOID:0060114|UMLS:C0154002|NCIT:C3610|SNOMEDCT:92473001
MONDO:0000646	ovarian benign neoplasm	biolink:Disease	mondo	DOID:0060112|NCIT:C2895|SCTID:92260003|EFO:1000116|COHD:199764		benign neoplasm of the ovary|benign neoplasm of ovary|benign tumor of the ovary|benign tumor of ovary|benign ovarian neoplasm|benign ovarian tumor|ovary benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000646	A non-metastasizing neoplasm that arises from the ovary. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, benign Brenner tumor, thecoma, and fibroma.	SNOMEDCT:92260003|DOID:0060112|NCIT:C2895
MONDO:0024617	xanthogranuloma	biolink:Disease	mondo	SCTID:189099001|NCIT:C27302		xanthogranuloma	http://purl.obolibrary.org/obo/MONDO_0024617		NCIT:C27302|SNOMEDCT:189099001
HP:0410243	Abnormal circulating IgM level	biolink:PhenotypicFeature	mondo			Abnormal IgM level in blood	http://purl.obolibrary.org/obo/HP_0410243	An abnormal deviation from normal levels of IgM immunoglobulin in blood.	
MONDO:0024619	central nervous system infectious disorder	biolink:Disease	mondo	MESH:D002494|ICD9:349.89|UMLS:C0007684|NCIT:C27582|EFO:1001456|SCTID:128117002		central nervous system infectious disorder|infectious disease of central nervous system|central nervous system infectious disease|infections, central nervous system|central nervous system infection	http://purl.obolibrary.org/obo/MONDO_0024619	An infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis.	SNOMEDCT:128117002|UMLS:C0007684|NCIT:C27582|MESH:D002494
MONDO:0000663	anosognosia	biolink:Disease	mondo	DOID:0060133			http://purl.obolibrary.org/obo/MONDO_0000663	An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments.	DOID:0060133
MONDO:0000662	amusia	biolink:Disease	mondo	UMLS:C0234497|DOID:0060132		receptive amusia	http://purl.obolibrary.org/obo/MONDO_0000662	An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals.	UMLS:C0234497|DOID:0060132
MONDO:0024610	parasitic skin disease	biolink:Disease	mondo	UMLS:C0037280|MESH:D012876		skin disease, parasitic|parasitic skin disease|disease, parasitic skin|parasitic skin diseases|diseases, parasitic skin	http://purl.obolibrary.org/obo/MONDO_0024610	Skin diseases caused by ARTHROPODS; HELMINTHS; or other parasites.	UMLS:C0037280|MESH:D012876
MONDO:0000661	alexithymia	biolink:Disease	mondo	DOID:0060131			http://purl.obolibrary.org/obo/MONDO_0000661	An agnosia that is a deficiency in understanding, processing, or describing emotions.	DOID:0060131
GO:2000819	regulation of nucleotide-excision repair	biolink:OntologyClass	mondo			regulation of interstrand crosslink repair|regulation of NER|regulation of pyrimidine-dimer repair, DNA damage excision|regulation of intrastrand cross-link repair	http://purl.obolibrary.org/obo/GO_2000819	Any process that modulates the frequency, rate or extent of nucleotide-excision repair.	
MONDO:0000660	akinetopsia	biolink:Disease	mondo	DOID:0060130			http://purl.obolibrary.org/obo/MONDO_0000660	An agnosia that is a loss of motion perception.	DOID:0060130
MONDO:0024612	manic bipolar affective disorder	biolink:Disease	mondo	NCIT:C34805|SCTID:191618007		manic bipolar affective disorder|manic-depressive - now manic|bipolar affective disorder, current episode manic	http://purl.obolibrary.org/obo/MONDO_0024612	The manic phase of bipolar disorder.	SNOMEDCT:191618007|NCIT:C34805
HGNC:21237	UQCC2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21237		
MONDO:0000667	auditory agnosia	biolink:Disease	mondo	DOID:0060137			http://purl.obolibrary.org/obo/MONDO_0000667	An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal.	DOID:0060137
MONDO:0024611	orbit neoplasm	biolink:Disease	mondo	NCIT:C3290		orbit of skull neoplasm|neoplasm of orbit|orbit tumor|neoplasm of orbit of skull|orbit of skull tumor|orbital tumor|tumor of the orbit|orbital neoplasm|tumor of orbit|orbital neoplasms|tumor of orbit of skull|orbit neoplasm|neoplasm of the orbit	http://purl.obolibrary.org/obo/MONDO_0024611	A benign or malignant neoplasm that affects the orbit.	NCIT:C3290
MONDO:0000666	associative visual agnosia	biolink:Disease	mondo	DOID:0060136		associative agnosia	http://purl.obolibrary.org/obo/MONDO_0000666	An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them.	DOID:0060136
MONDO:0000665	apraxia	biolink:Disease	mondo	GARD:0005838|ICD10:R48.2|DOID:0060135|MESH:D001072	gard_rare	dyspraxia|Apraxias	http://purl.obolibrary.org/obo/MONDO_0000665	Apraxia is a neurological disorder characterized by the inability to perform tasks or movements, despite having the desire and physical ability to perform them. It is caused by damage to the brain, especially the parietal lobe, and can arise from many diseases, tumors, a stroke, or traumatic brain injury. In some cases it is present from birth. There are several types of apraxia, which may occur alone or together. These include: Buccofacial or orofacial apraxia is the inability to carry out facial movements on demand. This may include licking the lips, sticking out the tongue, whistling, coughing, or winking. Ideational apraxia is the inability to carryout learned, complex tasks with multiple, sequential movements. This may include dressing, eating, and bathing. Ideomotor apraxia is the inability to perform a learned task (such as using a tool) or communicate using gestures (like waving good-bye). Limb-kinetic apraxia is the inability to make fine, precise movements with an arm or leg. This may include buttoning a shirt or tying a shoe. Verbal apraxia is difficulty coordinating mouth and speech movements. Verbal apraxia may be acquired or present from birth. Constructional apraxia is the inability to copy, draw, or construct simple figures. Oculomotor apraxia is difficulty moving the eyes on command. Treatment of apraxia may include physical, speech, or occupational therapy. If apraxia occurs as a symptom of another disorder, treatment should be directed to the underlying condition.	MESH:D001072|DOID:0060135
MONDO:0024614	neurotic depression	biolink:Disease	mondo	NCIT:C35369		neurotic depression	http://purl.obolibrary.org/obo/MONDO_0024614	A term used for any state of depression that is not psychotic.	NCIT:C35369
MONDO:0024613	bipolar depression	biolink:Disease	mondo	NCIT:C34424|SCTID:191627008		bipolar affective disorder, current episode depression|bipolar depression|manic-depressive - now depressed	http://purl.obolibrary.org/obo/MONDO_0024613	The depressive stage of bipolar disorder.	SNOMEDCT:191627008|NCIT:C34424
MONDO:0000664	apperceptive agnosia	biolink:Disease	mondo	DOID:0060134			http://purl.obolibrary.org/obo/MONDO_0000664	An agnosia that is a loss of the ability to distinguish visual shapes.	DOID:0060134
MONDO:0012627	epilepsy, idiopathic generalized, susceptibility to, 13	biolink:Disease	mondo	OMIM:611136|MESH:C567002|DOID:0111314	predisposition	epilepsy, idiopathic generalized, susceptibility to, 13; EIG13|epilepsy, childhood absence, susceptibility to, 4|epilepsy, idiopathic generalized, susceptibility to, 13|EIG13|juvenile myoclonic epilepsy caused by mutation in GABRA1|epilepsy, idiopathic generalized, susceptibility to, type 13|susceptibility to idiopathic generalized epilepsy 13|GABRA1 juvenile myoclonic epilepsy|epilepsy, juvenile myoclonic, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0012627	Any juvenile myoclonic epilepsy in which the cause of the disease is a mutation in the GABRA1 gene.	DOID:0111314|MESH:C567002|http://identifiers.org/omim/611136
GO:0099240	intrinsic component of synaptic membrane	biolink:OntologyClass	mondo			intrinsic to synaptic membrane	http://purl.obolibrary.org/obo/GO_0099240	The component of the synaptic membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane.	
MONDO:0012628	CHDS8	biolink:Disease	mondo	OMIM:611139	predisposition	coronary heart disease, susceptibility to, 8|coronary heart disease, susceptibility to, 8; CHDS8|CHDS8	http://purl.obolibrary.org/obo/MONDO_0012628		http://identifiers.org/omim/611139
MONDO:0012625	retinitis pigmentosa 37	biolink:Disease	mondo	MESH:C567005|ICD10:H35.5|OMIM:611131|UMLS:C1970163|DOID:0110399		RP37|retinitis pigmentosa caused by mutation in NR2E3|retinitis pigmentosa 37|NR2E3 retinitis pigmentosa|retinitis pigmentosa type 37|retinitis pigmentosa 37; RP37	http://purl.obolibrary.org/obo/MONDO_0012625	Any retinitis pigmentosa in which the cause of the disease is a mutation in the NR2E3 gene.	DOID:0110399|UMLS:C1970163|MESH:C567005|http://identifiers.org/omim/611131
MONDO:0012626	Meckel syndrome, type 4	biolink:Disease	mondo	ICD10:Q61.9|OMIM:611134|DOID:0070118|UMLS:C1970161		Meckel-like Cerebrorenodigital syndrome|Meckel-Gruber syndrome, type 4|MKS4|Meckel syndrome caused by mutation in CEP290|Meckel syndrome, type 4; MKS4|Meckel syndrome, type 4|CEP290 Meckel syndrome|Meckel syndrome 4	http://purl.obolibrary.org/obo/MONDO_0012626	Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene.	DOID:0070118|UMLS:C1970161|http://identifiers.org/omim/611134
MONDO:0012629	paroxysmal nonkinesigenic dyskinesia 2	biolink:Disease	mondo	UMLS:C1970149|ICD10:G24.8|MESH:C567001|OMIM:611147|DOID:0090047		paroxysmal nonkinesigenic dyskinesia 2; PNKD2|paroxysmal nonkinesigenic dyskinesia type 2|dystonia 20|PNKD2|paroxysmal nonkinesigenic dyskinesia 2	http://purl.obolibrary.org/obo/MONDO_0012629	A dystonia characterized by autosomal dominant inheritance of attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has material basis in variation in the chromosome region 2q31.	DOID:0090047|UMLS:C1970149|MESH:C567001|http://identifiers.org/omim/611147
MONDO:0012630	Alzheimer disease 13	biolink:Disease	mondo	MESH:C567000|DOID:0110046|OMIM:611152|ICD10:G30|UMLS:C1970147		Alzheimer's disease type 13|Alzheimer disease 13|Alzheimer disease 13; AD13|AD13|Alzheimer's disease 13	http://purl.obolibrary.org/obo/MONDO_0012630	An Alzheimer's disease that is characterized by an associated with variation in the region 1q21.	UMLS:C1970147|MESH:C567000|http://identifiers.org/omim/611152|DOID:0110046
MONDO:0012631	Alzheimer disease 14	biolink:Disease	mondo	UMLS:C1970144|OMIM:611154|DOID:0110047|MESH:C566999|ICD10:G30		Alzheimer disease 14|AD14|Alzheimer disease 14; AD14|Alzheimer's disease 14|Alzheimer's disease type 14	http://purl.obolibrary.org/obo/MONDO_0012631	An Alzheimer's disease that is characterized by an associated with variation in the region 1q25.	UMLS:C1970144|http://identifiers.org/omim/611154|DOID:0110047|MESH:C566999
MONDO:0012634	craniofacial dysplasia - osteopenia syndrome	biolink:Disease	mondo	Orphanet:314555|MESH:C566988|UMLS:C1970027|OMIM:611174	ordo_malformation_syndrome	HMMS|Hamamy syndrome|HAMAMY syndrome; HMMS|hypertelorism, Severe, with midface prominence, myopia, mental retardation, and bone fragility|HAMAMY syndrome|hypertelorism, Severe, with midface prominence, myopia, intellectual disability, and bone fragility	http://purl.obolibrary.org/obo/MONDO_0012634		ORPHA:314555|UMLS:C1970027|http://identifiers.org/omim/611174|MESH:C566988
MONDO:0012635	COG8-CDG	biolink:Disease	mondo	SCTID:717774004|ICD10:E77.8|OMIM:611182|GARD:0012411|DOID:0070260|Orphanet:95428|MESH:C566987|UMLS:C1970021	ordo_disease	congenital disorder of glycosylation type 2h|congenital disorder of glycosylation, type IIh|CDG2H|carbohydrate deficient glycoprotein syndrome type IIh|CDG-IIh|congenital disorder of glycosylation, type IIh; CDG2H|congenital disorder of glycosylation type IIh|CDG syndrome type IIh|CDG IIh|COG8-CDG (CDG-IIh)	http://purl.obolibrary.org/obo/MONDO_0012635	The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products.	ORPHA:95428|UMLS:C1970021|DOID:0070260|SNOMEDCT:717774004|http://identifiers.org/omim/611182|MESH:C566987
MONDO:0012632	Alzheimer disease 15	biolink:Disease	mondo	DOID:0110048|UMLS:C1970143|MESH:C566998|ICD10:G30|OMIM:611155		AD15|Alzheimer disease 15|Alzheimer disease 15; AD15|Alzheimer's disease type 15|Alzheimer's disease 15	http://purl.obolibrary.org/obo/MONDO_0012632	An Alzheimer's disease that is characterized by an associated with variations in the region 3q22-q24.	UMLS:C1970143|http://identifiers.org/omim/611155|MESH:C566998|DOID:0110048
MONDO:0012633	obsolete malaria	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0012633		
MONDO:0000659	delta-heavy chain disease	biolink:Disease	mondo	SCTID:20224008|ICD9:203.80|UMLS:C0272253|DOID:0060129		delta heavy chain disease|IgD heavy chain disease|delta chain disease	http://purl.obolibrary.org/obo/MONDO_0000659	A heavy chain disease that results from an overproduction of delta antibody (IgD).	DOID:0060129|SNOMEDCT:20224008|UMLS:C0272253
MONDO:0024607	congenital muscular dystrophy with cataracts and intellectual disability	biolink:Disease	mondo	OMIM:617404|UMLS:C4479410|DOID:0080197|EFO:0009149		MDCCAID|muscular dystrophy, congenital, with cataracts and intellectual disability; MDCCAID|muscular dystrophy, congenital, with cataracts and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0024607	A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13.	http://identifiers.org/omim/617404|UMLS:C4479410|DOID:0080197
MONDO:0000658	obsolete mu chain disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000658		
MONDO:0000657	obsolete gamma heavy chain disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000657		
MONDO:0024609	vulvar squamous cell carcinoma	biolink:Disease	mondo	UMLS:C0280856|DOID:2101|NCIT:C4052|EFO:1000624|Orphanet:494448|SCTID:254895003		vulvar epidermoid carcinoma|epidermoid carcinoma of the vulva|epidermoid carcinoma of vulva|epidermoid cell carcinoma of the vulva|vulvar squamous cell cancer|epidermoid cell carcinoma of vulva|vulvar epidermoid cell carcinoma|mammalian vulva squamous cell carcinoma|squamous cell carcinoma of the vulva|vulva epidermoid cell carcinoma|vulvar squamous cell carcinoma|vulva epidermoid carcinoma|squamous cell carcinoma of vulva|vulva squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0024609	An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003)	ORPHA:494448|DOID:2101|UMLS:C0280856|NCIT:C4052|SNOMEDCT:254895003
MONDO:0024608	dientamoebiasis	biolink:Disease	mondo	DOID:946|MESH:D004030|SCTID:67915005		Dientamoeba disease or disorder|Dientamoeba infectious disease|Dientamoeba caused disease or disorder|Dientamoebiases|intestinal trichomoniasis	http://purl.obolibrary.org/obo/MONDO_0024608	Gastrointestinal infection with organisms of the genus dientamoeba.	DOID:946|SNOMEDCT:67915005|MESH:D004030
CARO:0000000	anatomical entity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/CARO_0000000		
CARO:0000003	connected anatomical structure	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/CARO_0000003		
MONDO:0024685	Philadelphia-positive myelogenous leukemia	biolink:Disease	mondo	NCIT:C3177|UMLS:C0023476		Philadelphia-positive myelogenous leukemia|Philadelphia-positive myelocytic leukemia|Ph1-positive granulocytic leukemia|Ph1-positive myelocytic leukemia|Ph1-positive myeloid leukemia|Ph1-positive myelogenous leukemia|Philadelphia-positive granulocytic leukemia|Philadelphia-positive myeloid leukemia	http://purl.obolibrary.org/obo/MONDO_0024685		UMLS:C0023476|NCIT:C3177
MONDO:0022022	bowenoid papulosis	biolink:Disease	mondo	ICD9:447.8|SCTID:402913004|GARD:0005951|NCIT:C8374|UMLS:C0334106	gard_rare	Bowenoid papulosis|bowenoid papulosis|BP	http://purl.obolibrary.org/obo/MONDO_0022022	Dysplastic papular lesions presenting on the genitalia of either sex. The lesions are associated with human papillomavirus infection. The majority of cases have a benign clinical course, although, a small number of cases with malignant transformation have been reported.	NCIT:C8374|SNOMEDCT:402913004|UMLS:C0334106
HP:0011450	Unusual CNS infection	biolink:PhenotypicFeature	mondo	MSH:D002494|UMLS:C0007684|SNOMEDCT_US:128117002		Central nervous system infection	http://purl.obolibrary.org/obo/HP_0011450	A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection.	
HP:0011452	Functional abnormality of the middle ear	biolink:PhenotypicFeature	mondo	UMLS:C4021846		Functional abnormality of the middle ear	http://purl.obolibrary.org/obo/HP_0011452	An abnormality of the function of the middle ear.	
CARO:0000007	immaterial anatomical entity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/CARO_0000007		
MONDO:0022025	boylan dew greco syndrome	biolink:Disease	mondo	UMLS:C2931419|MESH:C537083|GARD:0000954	gard_rare	congenital hypomyelination neuropathy with arthrogryposis multiplex congenita	http://purl.obolibrary.org/obo/MONDO_0022025		MESH:C537083|UMLS:C2931419
MONDO:0024686	tenosynovial giant cell tumor, diffuse type	biolink:Disease	mondo	ONCOTREE:TGCT|NCIT:C3401|ICDO:9251/0		diffuse giant cell neoplasm of tendon sheath|diffuse giant cell neoplasm of Tenosynovium|diffuse giant cell neoplasm of the Tenosynovium|pigmented villonodular synovitis|diffuse tenosynovial giant cell tumor|diffuse giant cell tumor of Tenosynovium|diffuse giant cell tumor of the Tenosynovium|tenosynovial giant cell tumor diffuse type|tenosynovial giant cell tumor, diffuse type|diffuse tenosynovial giant cell neoplasm|diffuse giant cell tumor of tendon sheath	http://purl.obolibrary.org/obo/MONDO_0024686	A locally aggressive, diffusely infiltrating tumor, arising in the tendon sheath. It is composed of synovial-like mononuclear cells, hemosiderin-laden macrophages, foam cells, and inflammatory cells. Multinucleated osteoclast-like giant cells are usually present, although in a minority of cases they may be absent or rare. It predominantly affects young adults. Symptoms include joint swelling, pain, and joint effusion.	NCIT:C3401
CARO:0000006	material anatomical entity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/CARO_0000006		
MONDO:0009049	Cushing syndrome due to macronodular adrenal hyperplasia	biolink:Disease	mondo	GARD:0010824|Orphanet:189427|UMLS:CN200644|MESH:C565662|ICD10:E24.8|SCTID:720459002|UMLS:C2062388	gard_rare|prototype_pattern|ordo_disease	primary bilateral macronodular adrenal hyperplasia|ACTH-independent Cushing syndrome|MMAD|AIMAH|ACTH-independent macronodular adrenocortical hyperplasia|primary macronodular adrenal hyperplasia|corticotropin-independent macronodular adrenal hyperplasia|adrenocorticotropic hormone-independent macronodular adrenal hyperplasia|massive macronodular adrenocortical disease	http://purl.obolibrary.org/obo/MONDO_0009049	ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS.	UMLS:C2062388|ORPHA:189427|UMLS:CN200644|MESH:C565662|SNOMEDCT:720459002
MONDO:0009048	curved nail of fourth toe	biolink:Disease	mondo	OMIM:219070		curved nail of fourth toe|claw-like fingers and toes	http://purl.obolibrary.org/obo/MONDO_0009048		http://identifiers.org/omim/219070
MONDO:0009047	cryptorchidism (disease)	biolink:Disease	mondo	SCTID:204878001|NCIT:C12326|DOID:11383|ICD10:Q53.9|OMIM:219050|MESH:D003456|HP:0000028|ICD9:752.51|EFO:0004562|ICD9:752.5|COHD:437655		undescended testis|undescended testicles|cryptorchism|undescended testes|undescended testicle|cryptorchidism|cryptorchidism, unilateral or bilateral	http://purl.obolibrary.org/obo/MONDO_0009047	The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life.	NCIT:C12326|MESH:D003456|SNOMEDCT:204878001|DOID:11383|http://identifiers.org/omim/219050
MONDO:0009046	Fraser syndrome	biolink:Disease	mondo	GARD:0006465|OMIMPS:219000|SCTID:204102004|MESH:D058497|UMLS:C0265233|NCIT:C118436|DOID:0090001|ICD10:Q87.0|Orphanet:2052	gard_rare|ordo_malformation_syndrome|prototype_pattern	cryptophthalmos-syndactyly syndrome|cryptophthalmos with Other malformations|cryptophthalmos syndrome|Ulrich-Feichtiger syndrome|cryptophthalmos with other malformations|cyclopism|Fraser-Francois syndrome|Meyer-Schwickerath's syndrome|Fraser syndrome	http://purl.obolibrary.org/obo/MONDO_0009046	Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.	MESH:D058497|ORPHA:2052|NCIT:C118436|UMLS:C0265233|DOID:0090001|SNOMEDCT:204102004|http://identifiers.org/omim/219000
MONDO:0022020	Boudhina Yedes Khiari syndrome	biolink:Disease	mondo	UMLS:C2931668|GARD:0000945|MESH:C537939	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022020	Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions	MESH:C537939|UMLS:C2931668
MONDO:0009045	cataract-nephropathy-encephalopathy syndrome	biolink:Disease	mondo	OMIM:218900|ICD10:Q87.8|GARD:0001614|MESH:C536216|UMLS:C0795914|SCTID:722381004|Orphanet:1380	ordo_malformation_syndrome	crome syndrome|congenital cataracts, renal tubular necrosis and encephalopathy in two sisters	http://purl.obolibrary.org/obo/MONDO_0009045	Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963.	http://identifiers.org/omim/218900|SNOMEDCT:722381004|ORPHA:1380|UMLS:C0795914|MESH:C536216
MONDO:0010044	hereditary spastic paraplegia 15	biolink:Disease	mondo	MESH:C536642|DOID:0110768|Orphanet:100996|GARD:0009581|ICD10:G11.4|OMIM:270700|UMLS:C1849128|SCTID:709417000	ordo_disease	autosomal recessive complex spastic paraplegia caused by mutation in ZFYVE26|autosomal recessive spastic paraplegia type 15|hereditary spastic paraplegia type 15|recessive spastic paraplegia with retinal degeneration|spastic paraplegia-retinal degeneration syndrome|autosomal recessive spastic paraplegia 15|SPG15|spastic paraplegia and retinal degeneration|Kjellin syndrome|hereditary spastic paraparesis type 15|spastic paraplegia 15, autosomal recessive; SPG15|spastic paraplegia 15|spastic paraplegia and retinal Degeneration|ZFYVE26 autosomal recessive complex spastic paraplegia|spastic paraplegia 15, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0010044	Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.	MESH:C536642|UMLS:C1849128|DOID:0110768|SNOMEDCT:709417000|http://identifiers.org/omim/270700|ORPHA:100996
MONDO:0009044	Crigler-Najjar syndrome	biolink:Disease	mondo	NCIT:C84656|Orphanet:205|DOID:3803|MedDRA:10011386|MESH:D003414|ICD10:E80.5|SCTID:28259009|UMLS:CN119421|UMLS:C0010324	ordo_disease	Crigler Najjar syndrome|Crigler-Najjar syndrome|bilirubin UDP glucuronyl transferase deficiency|hereditary unconjugated hyperbilirubinemia|UGT deficiency|bilirubin uridinediphosphate glucuronosyltransferase deficiency|bilirubin-UGT deficiency|Crigler-Najjar syndrome, type I	http://purl.obolibrary.org/obo/MONDO_0009044	Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2. CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2.	NCIT:C84656|MESH:D003414|MEDDRA:10011386|UMLS:CN119421|ORPHA:205|DOID:3803|UMLS:C0010324|SNOMEDCT:28259009
MONDO:0009043	generalized resistance to thyroid hormone	biolink:Disease	mondo	ICD10:E07.8|Orphanet:3221	ordo_disease	Refetoff syndrome|deafness-thyroid hormone resistance syndrome|GRTH	http://purl.obolibrary.org/obo/MONDO_0009043	A thyroid hormone resistance syndrome characterized by resistance in the pituitary gland and in most or all of the peripheral tissues.	ORPHA:3221
MONDO:0010043	hereditary spastic paraplegia 17	biolink:Disease	mondo	Orphanet:100998|GARD:0004219|MESH:C536644|UMLS:CN074197|UMLS:C2931276|OMIM:270685|DOID:0110770|ICD10:G11.4	ordo_disease	hereditary spastic paraplegia caused by mutation in BSCL2|spastic paraplegia 17, autosomal dominant|Silver spastic paraplegia syndrome|SPG17|autosomal dominant spastic paraplegia 17|dHMN5B|hereditary spastic paraplegia type 17|spastic paraplegia with amyotrophy of hands and feet|autosomal dominant spastic paraplegia type 17|distal hereditary motor neuropathy type 5B|spastic paraplegia 17|BSCL2 hereditary spastic paraplegia|Silver syndrome|spastic paraplegia-amyotrophy of hands and feet|spastic paraplegia 17, autosomal dominant; SPG17	http://purl.obolibrary.org/obo/MONDO_0010043	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene.	MESH:C536644|DOID:0110770|UMLS:C2931276|http://identifiers.org/omim/270685|UMLS:CN074197|ORPHA:100998
MONDO:0010046	hereditary spastic paraplegia 23	biolink:Disease	mondo	UMLS:C0796019|SCTID:726608002|GARD:0000336|OMIM:270750|DOID:0110774|Orphanet:101003|ICD10:G11.4|MESH:C536859	ordo_disease	spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome|spastic paraplegia 23|spastic paraparesis, vitiligo, premature graying, characteristic facies|spastic paraplegia vitiligo premature graying and characteristic facies|SPG23|spastic paraplegia with pigmentary abnormalities|DSTYK autosomal recessive complex spastic paraplegia|spastic paraplegia 23|SPG 23|spastic paraplegia 23; SPG23|spastic paraplegia and pigmentary abnormalities|autosomal recessive spastic paraplegia type 23|autosomal recessive complex spastic paraplegia caused by mutation in DSTYK|hereditary spastic paraplegia type 23|Lison syndrome	http://purl.obolibrary.org/obo/MONDO_0010046	Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.	SNOMEDCT:726608002|MESH:C536859|DOID:0110774|ORPHA:101003|http://identifiers.org/omim/270750|UMLS:C0796019
MONDO:0009042	craniotelencephalic dysplasia	biolink:Disease	mondo	GARD:0001605|UMLS:C1857471|ICD10:Q04.3|MESH:C535597|OMIM:218670|Orphanet:1528|SCTID:715422002	ordo_malformation_syndrome|gard_rare	Complex of anomalies involving the cranium and brain|craniotelencephalic dysplasia	http://purl.obolibrary.org/obo/MONDO_0009042	Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983.	http://identifiers.org/omim/218670|UMLS:C1857471|ORPHA:1528|MESH:C535597|SNOMEDCT:715422002
MONDO:0010045	obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome	biolink:Disease	mondo	ICD10:G82.1|UMLS:C0795942|Orphanet:2823|GARD:0002343|MESH:C537938|OMIM:270710		FITZSIMMONS-Guilbert syndrome|spastic paraplegia associated with brachydactyly type E|moved to 270550, 190350, and 616944|Fitzsimmons-Guilbert syndrome|Fitzsimmons syndrome	http://purl.obolibrary.org/obo/MONDO_0010045	This syndrome is characterized by slowly progressive spastic paraplegia, skeletal anomalies of the hands and feet with brachydactyly type E, cone-shaped epiphyses, abnormal metaphyseal phalangeal pattern profile, sternal anomaly (pectus carinatum or excavatum), dysarthria, and mild intellectual deficit. It has been reported in five patients, among which there were two sets of identical twins. The significance of the relationship between the twinning process and the condition is not clear. The mode of inheritance is unknown but single-gene transmission seems likely.	ORPHA:2823|UMLS:C0795942|MESH:C537938|http://identifiers.org/omim/270710
MONDO:0009041	craniosynostosis-mental retardation-clefting syndrome	biolink:Disease	mondo	MESH:C537906|UMLS:C1857472|GARD:0001599|UMLS:C2931663|MESH:C565663|GARD:0000817|OMIM:218650	gard_rare	craniosynostosis-intellectual disability-clefting syndrome|craniosynostosis intellectual disability clefting syndrome|craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose|craniosynostosis, intellectual disability, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose|Baraitser Rodeck garner syndrome|craniosynostosis mental retardation clefting syndrome|craniosynostosis-mental retardation-clefting syndrome	http://purl.obolibrary.org/obo/MONDO_0009041	A recessive syndrome characterized by craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose.	http://identifiers.org/omim/218650|UMLS:C1857472|MESH:C537906|MESH:C565663|UMLS:C2931663
MONDO:0010048	spastic paraplegia with myoclonic epilepsy	biolink:Disease	mondo	UMLS:C1849114|OMIM:270805|MESH:C564810		spastic paraplegia with myoclonic epilepsy	http://purl.obolibrary.org/obo/MONDO_0010048		UMLS:C1849114|MESH:C564810|http://identifiers.org/omim/270805
MONDO:0009040	craniosynostosis-mental retardation syndrome of 51N and Gettig	biolink:Disease	mondo	OMIM:218649|MESH:C565664|UMLS:C1857473|GARD:0010282		craniosynostosis-intellectual disability syndrome of Lin and Gettig|craniosynostosis-mental retardation syndrome of Lin and Gettig|Lin-Gettig syndrome	http://purl.obolibrary.org/obo/MONDO_0009040		http://identifiers.org/omim/218649|UMLS:C1857473|MESH:C565664
MONDO:0010047	hereditary spastic paraplegia 5A	biolink:Disease	mondo	UMLS:C2931357|Orphanet:100986|GARD:0004926|DOID:0110810|ICD10:G11.4|SCTID:763373005|UMLS:C1849115|OMIM:270800	ordo_disease	spastic paraplegia 5A, autosomal recessive; SPG5A|spastic paraplegia type 5B, recessive|hereditary spastic paraplegia type 5A|CYP7B1 pure or complex autosomal recessive spastic paraplegia|spastic paraplegia type 5A|spastic paraplegia 5A, autosomal recessive|autosomal recessive spastic paraplegia|autosomal recessive spastic paraplegia type 5A|pure or complex autosomal recessive spastic paraplegia caused by mutation in CYP7B1|spastic paraplegia 5A|autosomal recessive spastic paraplegia 5A|SPG5A	http://purl.obolibrary.org/obo/MONDO_0010047	Autosomal recessive spastic paraplegia type 5A (SPG5A) is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients.	MESH:C536871|UMLS:C1849115|DOID:0110810|UMLS:C2931357|UMLS:C2931356|http://identifiers.org/omim/270800|SNOMEDCT:763373005|ORPHA:100986
MONDO:0010049	spastic paraplegia-glaucoma-intellectual disability syndrome	biolink:Disease	mondo	OMIM:270850|MESH:C564809|GARD:0004931|Orphanet:2818|UMLS:C1849113	ordo_disease	spastic paresis glaucoma mental retardation|spastic paresis, glaucoma, and intellectual disability|spastic paresis, glaucoma, and mental retardation|spastic paresis glaucoma intellectual disability	http://purl.obolibrary.org/obo/MONDO_0010049	Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.	ORPHA:2818|UMLS:C1849113|MESH:C564809|http://identifiers.org/omim/270850
HP:0011458	Abdominal symptom	biolink:PhenotypicFeature	mondo	UMLS:C0740651			http://purl.obolibrary.org/obo/HP_0011458		
MONDO:0010040	ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation	biolink:Disease	mondo	OMIM:270500|UMLS:C3151619		ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability|ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation	http://purl.obolibrary.org/obo/MONDO_0010040		UMLS:C3151619|http://identifiers.org/omim/270500
MONDO:0010042	spastic diplegia and mental retardation	biolink:Disease	mondo	OMIM:270600|UMLS:C1849139|MESH:C537481|GARD:0004911		spastic diplegia and intellectual disability|spastic diplegia and mental retardation|spastic diplegia, infantile type|spastic diplegia infantile type|hereditary spastic diplegia with mental retardation|hereditary spastic diplegia with intellectual disability	http://purl.obolibrary.org/obo/MONDO_0010042		UMLS:C1849139|http://identifiers.org/omim/270600|MESH:C537481
MONDO:0010041	Charlevoix-Saguenay spastic ataxia	biolink:Disease	mondo	ICD10:G11.1|Orphanet:98|GARD:0004910|SCTID:702445005|DOID:0050946|OMIM:270550|MESH:C536787|UMLS:C1849140	ordo_disease	spastic ataxia of Charlevoix-Saguenay|SPAX6|autosomal recessive spastic ataxia type 6|ARSACS|spastic ataxia Charlevoix-Saguenay type|sacs|spastic ataxia, Charlevoix-Saguenay type|autosomal recessive spastic ataxia of Charlevoix-Saguenay|Charlevoix-Saguenay spastic ataxia|spastic ataxia 6, autosomal recessive|spastic ataxia, Charlevoix-Saguenay type; sacs	http://purl.obolibrary.org/obo/MONDO_0010041	Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy.	DOID:0050946|MESH:C536787|UMLS:C1849140|http://identifiers.org/omim/270550|ORPHA:98|SNOMEDCT:702445005
MONDO:0024674	Pancoast syndrome	biolink:Disease	mondo	NCIT:C55815|UMLS:C0030271|MESH:D010178|SCTID:278065000		syndrome, Pancoast|tumor, Pancoast|syndrome, Pancoast's|Pancoast's syndrome|Pancoast tumor|Pancoasts syndrome|superior pulmonary sulcus syndrome|Pancoast syndrome	http://purl.obolibrary.org/obo/MONDO_0024674	A rare neoplastic syndrome characterized by obstruction of the thoracic outlet leading to compression of the brachial plexus and vessels within. It is usually caused by a malignant neoplasm in the superior pulmonary sulcus. The most commonly involved neoplasms are non-small cell lung carcinomas. Clinical signs include Horner's syndrome, shoulder pain radiating down the arm in the ulnar distribution followed by edema and atrophy of the affected extremity. Clinical course usually leads to early local invasion of the bony thoracic structures. Prognosis is highly stage-dependent.	UMLS:C0030271|MESH:D010178|SNOMEDCT:278065000|NCIT:C55815
MONDO:0022011	bobble-head doll syndrome	biolink:Disease	mondo	GARD:0009731|MESH:C536241	gard_rare	BHDS|bobble head doll syndrome	http://purl.obolibrary.org/obo/MONDO_0022011	Bobble-head doll syndrome (BHDS) is a rare neurological condition thatis typically first seen in childhood. The signs and symptoms of BHDS includecharacteristic up and downhead movements that increase during walking and excitement and decrease during concentration.Although the specific cause of this condition is unknown, BHDS is often seen with cysts in the third ventricle of the brain that alsocause hydrocephalus (water on the brain). Treatment for BHDS may involve surgical removal of the cyst causing the condition or using a shunt to drain excess water on the brain.	MESH:C536241
MONDO:0024673	skin lymphangioma	biolink:Disease	mondo	UMLS:C1333176|NCIT:C27509		skin lymphangioma|cutaneous lymphangioma	http://purl.obolibrary.org/obo/MONDO_0024673	A lymphangioma arising from the skin.	NCIT:C27509|UMLS:C1333176
MONDO:0022013	Boerhaave syndrome	biolink:Disease	mondo	GARD:0009261|SCTID:19995004|MESH:C536571|UMLS:C0238115	gard_rare	Boerhaave syndrome|boerhaave's syndrome|spontaneous rupture of the esophagus|Boerhave syndrome|spontaneous perforation of esophagus|spontaneous esophageal perforation|Boerhaave's syndrome|spontaneous rupture of esophagus|spontaneous perforation of the esophagus	http://purl.obolibrary.org/obo/MONDO_0022013	A syndrome characterized by spontaneous longitudinal transmural rupture of the esophagus, usually in its distal part.	MESH:C536571|SNOMEDCT:19995004|UMLS:C0238115
MONDO:0024676	childhood kidney Wilms tumor	biolink:Disease	mondo	NCIT:C27730|UMLS:C1333015		childhood Wilms tumor|childhood kidney Wilms tumor|Wilms tumor|childhood renal Wilms tumor|kidney Wilms tumor|childhood renal Wilms' tumor	http://purl.obolibrary.org/obo/MONDO_0024676	A Wilms tumor of the kidney which occurs in children.	NCIT:C27730|UMLS:C1333015
MONDO:0024675	adult kidney Wilms tumor	biolink:Disease	mondo	UMLS:C1332219|NCIT:C6180		adult nephroblastoma|adenosarcoma of adult kidney|adenosarcoma of the adult kidney|adult renal Wilms' tumor|kidney Wilms tumor of adults|adult renal adenosarcoma|adult kidney Wilms tumor|adult renal Wilms tumor|adult kidney adenosarcoma	http://purl.obolibrary.org/obo/MONDO_0024675	Wilms tumor of the kidney which occurs in adults.	UMLS:C1332219|NCIT:C6180
HP:0011442	Abnormal central motor function	biolink:PhenotypicFeature	mondo	UMLS:C4023354		Abnormality of central motor function	http://purl.obolibrary.org/obo/HP_0011442	An anomaly of the control or production of movement in the central nervous system.	
HP:0011443	Abnormality of coordination	biolink:PhenotypicFeature	mondo	UMLS:C4023353		Coordination issue|Abnormality of coordination	http://purl.obolibrary.org/obo/HP_0011443		
MONDO:0024677	pancreatic insulinoma	biolink:Disease	mondo	MedDRA:10022498|ICD10:E16.8|SCTID:302822000|MESH:D007340|DOID:3892|NCIT:C95598|EFO:0000549|GARD:0003010|HP:0012197	ordo_disease|gard_rare	beta-cell adenoma|Insulomas|beta-cell tumors|adenoma, beta-cell|insulin-producing tumor of islet cells|insulinoma tumor suppressor GENE locus|beta cell tumor|adenomas, beta-cell|insulinoma|insuloma|beta-cell tumor|beta-cell adenomas|tumor, beta-cell|islet cell adenoma|Insulinomas|pancreatic insulinoma|tumors, beta-cell|adenoma, beta cell	http://purl.obolibrary.org/obo/MONDO_0024677	An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin.	SNOMEDCT:302822000|MEDDRA:10022498|MESH:D007340|DOID:3892|NCIT:C95598
MONDO:0022018	Borrone di Rocco Crovato syndrome	biolink:Disease	mondo	UMLS:C1859406|MESH:C536577|GARD:0000939	gard_rare	Borrone dermatocardioskeletal syndrome	http://purl.obolibrary.org/obo/MONDO_0022018		UMLS:C1859406|MESH:C536577
HP:0011446	Abnormality of higher mental function	biolink:PhenotypicFeature	mondo	UMLS:C4023352			http://purl.obolibrary.org/obo/HP_0011446	Cognitive, psychiatric or memory anomaly.	
MONDO:0010029	situs inversus	biolink:Disease	mondo	ICD9:759.3|DOID:758|ICD10:Q89.3|MESH:D012857|GARD:0004883|OMIM:270100|SCTID:24614000|ICD9:759.89|COHD:193306|HP:0001696|NCIT:C87121|Orphanet:101063	ordo_morphological_anomaly	SIV|laterality sequence|situs inversus totalis (disease)|complete situs inversus|situs inversus viscerum|complete transposition|complete situs inversus viscerum|situs inversus totalis|situs ambiguus|heterotaxy, visceral, 5, autosomal; HTX5|situs inversus|complete transposition (morphologic abnormality)|heterotaxy, visceral, 5, autosomal|HTX5	http://purl.obolibrary.org/obo/MONDO_0010029	A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning).	SNOMEDCT:24614000|DOID:758|NCIT:C87121|MESH:D012857|http://identifiers.org/omim/270100|ORPHA:101063
MONDO:0009059	cysteine Peptiduria	biolink:Disease	mondo	OMIM:219550|MESH:C565659|UMLS:C1857438		cysteine Peptiduria	http://purl.obolibrary.org/obo/MONDO_0009059		http://identifiers.org/omim/219550|UMLS:C1857438|MESH:C565659
MONDO:0009058	cystathioninuria (disease)	biolink:Disease	mondo	ICD10:E72.1|NCIT:C129070|HP:0003153|UMLS:C3495552|UMLS:C0220993|GARD:2428|OMIM:219500|GARD:0002428|DOID:0090142|UMLS:C0268616|SCTID:13003007|Orphanet:212	mostly_harmless|ordo_disease	cystathionase deficiency|gamma-cystathionase deficiency|Cystathione gamma-lyase deficiency syndrome|cystathioninuria|cystathione gamma-lyase deficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0009058	Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases.	http://identifiers.org/omim/219500|UMLS:C0220993|UMLS:C0268616|NCIT:C129070|UMLS:C3495552|ORPHA:212|SNOMEDCT:13003007|MESH:C535408|DOID:0090142
MONDO:0009057	cyanosis and hepatic disease	biolink:Disease	mondo	UMLS:C1857443|MESH:C565660|OMIM:219400		cyanosis and hepatic disease	http://purl.obolibrary.org/obo/MONDO_0009057		UMLS:C1857443|MESH:C565660|http://identifiers.org/omim/219400
MONDO:0009056	cutis verticis gyrata and mental retardation	biolink:Disease	mondo	UMLS:C1857444|Orphanet:1557|OMIM:219300		cutis verticis gyrata-intellectual disability syndrome|CVG/MR|cutis verticis gyrata and intellectual disability|cutis verticis gyrata and mental retardation; CVG/MR|cutis verticis gyrata and mental retardation|cutis verticis gyrata and intellectual disability; CVG/MR	http://purl.obolibrary.org/obo/MONDO_0009056		UMLS:C1857444|ORPHA:1557|http://identifiers.org/omim/219300
MONDO:0009055	cutis marmorata telangiectatica congenita (disease)	biolink:Disease	mondo	Orphanet:1556|MESH:C536226|ICD10:Q82.8|ICD9:757.8|HP:0025107|OMIM:219250|GARD:0006228|SCTID:254778000	ordo_malformation_syndrome	CMTC|Van Lohuizen syndrome|cutis marmorata telangiectatica congenita|hereditary cutis marmorata telangiectatica congenita|cutis marmorata telangiectatica congenita; CMTC	http://purl.obolibrary.org/obo/MONDO_0009055	Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.	UMLS:C0345419|ORPHA:1556|MESH:C536226|SNOMEDCT:254778000|http://identifiers.org/omim/219250
MONDO:0010033	generalized peeling skin syndrome	biolink:Disease	mondo	ICD10:Q80.8|Orphanet:263543|UMLS:C4305156|SCTID:718749004|UMLS:CN202304|GARD:0012862	ordo_disease	PSS1|peeling skin syndrome 1|generalized PSS|generalized deciduous skin|peeling skin syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0010033	Generalized peeling skin syndrome (PSS) is a form of PSS presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy.	SNOMEDCT:718749004|ORPHA:263543|UMLS:CN202304|UMLS:C4305156
HGNC:11896	TNFAIP3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11896		
MONDO:0012696	OTSC4	biolink:Disease	mondo	OMIM:611571|MESH:C566914|UMLS:C1969046		otosclerosis 4|OTSC4|otosclerosis 4; OTSC4	http://purl.obolibrary.org/obo/MONDO_0012696		http://identifiers.org/omim/611571|MESH:C566914|UMLS:C1969046
MONDO:0010032	Sjogren-Larsson-like ichthyosis without CNS or eye involvement	biolink:Disease	mondo	UMLS:C1849195|MESH:C536668|GARD:0004885|OMIM:270220		Sjogren-Larsson-like syndrome|Sjogren-Larsson-like ichthyosis without CNS or eye involvement|ichthyosis, Sjogren-Larsson-like, without CNS or eye involvement	http://purl.obolibrary.org/obo/MONDO_0010032		MESH:C536668|UMLS:C1849195|http://identifiers.org/omim/270220
MONDO:0009054	autosomal recessive cutis laxa type 2, classic type	biolink:Disease	mondo	GARD:0001638|UMLS:CN204606|MESH:C562632|DOID:0070136|OMIM:219200|SCTID:73856006|ICD10:Q82.8|DOID:0070141|Orphanet:357074	ordo_clinical_subtype	ARCL2, classic type|ARCL2, Debré type|Arcl2|cutis laxa with Joint laxity and retarded development|cutis laxa, autosomal recessive, type 2A|cutis laxa, autosomal recessive, type IIA; ARCL2A|cutis laxa with congenital disorder of glycosylation|ARCL2, debre type|cutis laxa, autosomal recessive, type IIA|cutis laxa with Growth and developmental delay|cutis laxa, autosomal recessive type 2A|ARCL2, DebrC) type|autosomal recessive cutis laxa type 2, DebrC) type|autosomal recessive cutis laxa type II classic type|cutis laxa with bone dystrophy|ARCL2A|cutis laxa, debre type|autosomal recessive cutis laxa type 2, Debré type|ADCL2	http://purl.obolibrary.org/obo/MONDO_0009054		ORPHA:357074|SNOMEDCT:73856006|http://identifiers.org/omim/219200|MESH:C562632|DOID:0070141|DOID:0070136|UMLS:CN204606
MONDO:0012697	OTSC7	biolink:Disease	mondo	UMLS:C1969044|OMIM:611572|MESH:C566913		OTSC7|otosclerosis 7|otosclerosis 7; OTSC7	http://purl.obolibrary.org/obo/MONDO_0012697		http://identifiers.org/omim/611572|MESH:C566913|UMLS:C1969044
MONDO:0012694	Joubert syndrome 7	biolink:Disease	mondo	UMLS:C1969053|MESH:C566916|OMIM:611560|DOID:0111002		Joubert syndrome 7|RPGRIP1L Joubert syndrome|Joubert syndrome type 7|JBTS7|Joubert syndrome caused by mutation in RPGRIP1L|Joubert syndrome 7; JBTS7	http://purl.obolibrary.org/obo/MONDO_0012694	Any Joubert syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene.	DOID:0111002|http://identifiers.org/omim/611560|MESH:C566916|UMLS:C1969053
MONDO:0010035	Smith-Lemli-Opitz syndrome	biolink:Disease	mondo	OMIM:270400|ICD10:Q87.1|DOID:14692|SCTID:43929004|MESH:D019082|UMLS:C0175694|ICD9:759.89|GARD:0005683|NCIT:C85071|ICD10:E78.72|Orphanet:818	ordo_malformation_syndrome|gard_rare	polydactyly, sex reversal, renal hypoplasia, and unilobular lung|Smith Lemli Opitz syndrome|lethal acrodysgenital syndrome|Smith-Lemli-Opitz syndrome; SLOS|7-dehydrocholesterol reductase deficiency|Rutledge lethal multiple congenital anomaly syndrome|SLO syndrome|RSH syndrome|Smith-Opitz-inborn syndrome|SLOS|polydactyly, sex reversal, renal hypoplasia, and unilobar lung|Smith-Lemli-Opitz syndrome	http://purl.obolibrary.org/obo/MONDO_0010035	Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.	UMLS:C2713347|UMLS:C0175694|MESH:D019082|DOID:14692|ORPHA:818|NCIT:C85071|SNOMEDCT:43929004|http://identifiers.org/omim/270400
MONDO:0009053	ALDH18A1-related de Barsy syndrome	biolink:Disease	mondo	SCTID:59252009|ICD10:Q87.8|Orphanet:35664|ICD10:Q82.8|DOID:0070132|ICD9:371.89|OMIM:219150	ordo_etiological_subtype	progeroid syndrome of De Barsy|ARCL3A|cutis laxa, autosomal recessive, type IIIA; ARCL3A|neurocutaneous syndrome, Bicknell type|cutis laxa, autosomal recessive, type IIIA|Delta-1-pyrroline 5-carboxylate synthetase deficiency|P5CS deficiency|De Barsy syndrome a|autosomal recessive cutis laxa type IIIA|cutis laxa, autosomal recessive, type 3A|cutis laxa, corneal clouding, and mental retardation|cutis laxa, corneal clouding, and intellectual disability|De Barsy syndrome A	http://purl.obolibrary.org/obo/MONDO_0009053	ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity.	SNOMEDCT:59252009|http://identifiers.org/omim/219150|ORPHA:35664|DOID:0070132
MONDO:0009052	cutis laxa, autosomal recessive, type 1A	biolink:Disease	mondo	DOID:0070135|ICD10:Q82.8|OMIM:219100|UMLS:CN033664|MESH:C562628|SCTID:59451000		ARCL1|cutis laxa, autosomal recessive, type IA; ARCL1A|ARCL1A|cutis laxa, autosomal recessive|cutis laxa, autosomal recessive, type IA|autosomal recessive cutis laxa type IA	http://purl.obolibrary.org/obo/MONDO_0009052	An autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32.	UMLS:CN033664|SNOMEDCT:59451000|http://identifiers.org/omim/219100|MESH:C562628|DOID:0070135
MONDO:0012695	Meckel syndrome, type 5	biolink:Disease	mondo	UMLS:C1969052|ICD10:Q61.9|MESH:C566915|OMIM:611561|DOID:0070119		RPGRIP1L Meckel syndrome|Meckel syndrome 5|Meckel-Gruber syndrome, type 5|Meckel syndrome, type 5; MKS5|MKS5|Meckel syndrome caused by mutation in RPGRIP1L|Meckel syndrome, type 5	http://purl.obolibrary.org/obo/MONDO_0012695	Any Meckel syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene.	http://identifiers.org/omim/611561|MESH:C566915|UMLS:C1969052|DOID:0070119
MONDO:0010034	anosmia for butyl mercaptan	biolink:Disease	mondo	OMIM:270350		skunk N-BUTYLMERCAPTAN, inability to smell|skunk N-butyl mercaptan, inability to smell	http://purl.obolibrary.org/obo/MONDO_0010034		http://identifiers.org/omim/270350
MONDO:0009051	cutaneous photosensitivity-lethal colitis syndrome	biolink:Disease	mondo	UMLS:C1857449|ICD10:L57.8|MESH:C536224|Orphanet:2881|GARD:0001633|OMIM:219095	ordo_disease	early cutaneous photosensitivity and severe colitis|cutaneous photosensitivity and colitis, lethal	http://purl.obolibrary.org/obo/MONDO_0009051	Cutaneous photosensitivity and lethal colitisis is a rare inflammatory bowel disease characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991.	UMLS:C1857449|ORPHA:2881|MESH:C536224|http://identifiers.org/omim/219095
MONDO:0010037	sodium-potassium-ATPase activity of red cell	biolink:Disease	mondo	OMIM:270425		sodium pump sites, number of|sodium-potassium-ATPase activity of red cell	http://purl.obolibrary.org/obo/MONDO_0010037		http://identifiers.org/omim/270425
MONDO:0010036	congenital secretory sodium diarrhea 3	biolink:Disease	mondo	DOID:0060781|OMIM:270420|ICD10:P78.3		congenital secretory sodium diarrhea 3 with or without other congenital anomalies|SPINT2 secretory diarrhea|diarrhea 3, secretory sodium, congenital, syndromic|DIAR3|congenital secretory sodium diarrhea 3 syndromic|diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies; DIAR3|congenital secretory sodium diarrhea type 3|secretory diarrhea caused by mutation in SPINT2|diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies|sodium diarrhea, congenital	http://purl.obolibrary.org/obo/MONDO_0010036	Any secretory diarrhea in which the cause of the disease is a mutation in the SPINT2 gene.	http://identifiers.org/omim/270420|DOID:0060781
MONDO:0009050	Cushing disease due to pituitary adenoma	biolink:Disease	mondo	Orphanet:96253|GARD:0012867|UMLS:C0221406|NCIT:C113210|OMIM:219090|UMLS:C1306214|ICD10:D35.2|DOID:7004|ICD10:E24.0|SCTID:254958004|MedDRA:10035109|MESH:D049913	gard_rare|ordo_disease	pituitary adenoma 4, ACTH-secreting; PITA4|pituitary-dependent Cushing syndrome|Corticotropinoma|ACTH-secreting pituitary adenoma|pituitary adenoma, ACTH-secreting|ACTH-producing pituitary adenoma|Cushing disease, pituitary|pituitary corticotroph micro-adenoma|corticotroph pituitary adenoma|Cushing disease|ACTH producing pituitary adenoma|PITA4|corticotroph adenoma|pituitary dependent Cushing syndrome|Cushing's disease|pituitary adenoma 4, ACTH-secreting	http://purl.obolibrary.org/obo/MONDO_0009050	Cushing's syndrome due to abnormally high secretion of adrenocorticotropic hormone (ACTH) from the pituitary gland.	MEDDRA:10035109|ORPHA:96253|MESH:D049913|UMLS:C0221406|NCIT:C113210|http://identifiers.org/omim/219090|MESH:D047748|UMLS:C1306214|SNOMEDCT:254958004|DOID:7004
MONDO:0012698	Waardenburg syndrome type 2E	biolink:Disease	mondo	OMIM:611584|DOID:0110956|UMLS:C2700405		Waardenburg syndrome, type 2E|WS2E with or without neurological involvement|SOX10 Waardenburg syndrome type 2|Waardenburg syndrome, type 2E; WS2E|hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation|hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation|Waardenburg syndrome type 2 caused by mutation in SOX10|Ws2E, with or without neurologic involvement|WS2E|Waardenburg syndrome type 2E with or without neurologic involvement|Waardenburg syndrome, type 2E, with or without neurologic involvement|Waardenburg syndrome type IIE	http://purl.obolibrary.org/obo/MONDO_0012698	Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SOX10 gene.	UMLS:C2700405|http://identifiers.org/omim/611584|DOID:0110956
MONDO:0010039	congenital heart defect-round face-developmental delay syndrome	biolink:Disease	mondo	Orphanet:1355|SCTID:715987000|GARD:0004905|UMLS:C0796162|ICD10:Q87.8|OMIM:270460|MESH:C536680	ordo_malformation_syndrome	round face with depressed nasal Bridge and small mouth, congenital heart defect, and retarded development|Sonoda syndrome	http://purl.obolibrary.org/obo/MONDO_0010039	Heart defect B round face B congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit.	ORPHA:1355|MESH:C536680|http://identifiers.org/omim/270460|SNOMEDCT:715987000|UMLS:C0796162
MONDO:0012699	autosomal recessive limb-girdle muscular dystrophy type 2M	biolink:Disease	mondo	OMIM:611588|Orphanet:206554|UMLS:C1969040|GARD:0012538|MESH:C566912|DOID:0110296|ICD10:G71.0	ordo_disease	FKTN autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4|autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTN|muscular dystrophy, limb-girdle, type 2M|muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4; MDDGC4|limb-girdle muscular dystrophy type 2M|MDDGC4|LGMD2M	http://purl.obolibrary.org/obo/MONDO_0012699	Autosomal recessive limb-girdle muscular dystrophy type 2M (LGMD2M) is a form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.	http://identifiers.org/omim/611588|MESH:C566912|UMLS:C1969040|DOID:0110296|ORPHA:206554
MONDO:0010038	growth delay due to insulin-like growth factor I resistance	biolink:Disease	mondo	ICD10:E34.3|Orphanet:73273|GARD:0010609|OMIM:270450|SCTID:715625007|UMLS:C1849157	gard_rare|ordo_disease	insulin-like growth factor I, resistance to|Somatomedin-C, resistance to|resistance to IGF-1|insulin-like growth factor I, resistance to; IGF1RES|insulin-like growth factor 1 resistance to|Somatomedin, end-organ insensitivity to|Somatomedin-c resistance to|insulin-like Growth Factor I, resistance to, due to increased binding Protein|IGF1RES|IGF-1 resistance|Somatomedin end-organ insensitivity to|IGF-I resistance	http://purl.obolibrary.org/obo/MONDO_0010038	Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).	ORPHA:73273|UMLS:C1849157|http://identifiers.org/omim/270450|SNOMEDCT:715625007
MONDO:0012692	renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies	biolink:Disease	mondo	MESH:C566918|UMLS:C1969055|OMIM:611555		renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies|renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies	http://purl.obolibrary.org/obo/MONDO_0012692		http://identifiers.org/omim/611555|MESH:C566918|UMLS:C1969055
HGNC:11892	TNF	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11892		
MONDO:0012693	glycogen storage disease due to muscle and heart glycogen synthase deficiency	biolink:Disease	mondo	GARD:0010760|UMLS:C1969054|MESH:C566917|Orphanet:137625|OMIM:611556|SCTID:725027004|ICD10:E74.0	ordo_disease	glycogen storage disease type 0, muscle|glycogenosis type 0b|GSD 0B|GSD due to muscle and heart glycogen synthase deficiency|glycogen storage disease 0, muscle; GSD0B|glycogen storage disease 0, muscle|heart glycogen storage disease due to glycogen synthase deficiency|glycogen storage disease due to glycogen synthase deficiency of heart|muscle glycogen storage disease 0|GSD type 0b|glycogen storage disease type 0b|glycogenosis due to muscle and heart glycogen synthase deficiency|muscle glycogen synthase deficiency|GSD0B	http://purl.obolibrary.org/obo/MONDO_0012693	Glycogen storage disease due to muscle and heart glycogen synthase deficiency is characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase.	http://identifiers.org/omim/611556|MESH:C566917|UMLS:C1969054|SNOMEDCT:725027004|ORPHA:137625
MONDO:0012690	Noonan syndrome 5	biolink:Disease	mondo	UMLS:C1969057|DOID:0060583|GARD:0010700|MESH:C548083|OMIM:611553	gard_rare	Noonan syndrome caused by mutation in RAF1|RAF1 gene related Noonan syndrome|Noonan syndrome 5; NS5|RAF1 Noonan syndrome|Noonan syndrome type 5|NS5|Noonan syndrome 5	http://purl.obolibrary.org/obo/MONDO_0012690	Any Noonan syndrome in which the cause of the disease is a mutation in the RAF1 gene.	http://identifiers.org/omim/611553|UMLS:C1969057|DOID:0060583|MESH:C548083
MONDO:0010031	Sjogren-Larsson syndrome	biolink:Disease	mondo	SCTID:111303009|MedDRA:10048676|UMLS:C0037231|ICD10:Q87.1|MESH:D016111|NCIT:C85070|GARD:0007654|DOID:14501|OMIM:270200|EFO:0007031|Orphanet:816	ordo_disease|gard_rare	FAO deficiency|FALDH deficiency|Sjogren-Larsson syndrome; SLS|Sjogren-Larsson's syndrome|fatty alcohol:NAD+ oxidoreductase deficiency|Sjögren-Larsson syndrome|fatty acid alcohol oxidoreductase deficiency|SLS|Sjogren Larsson syndrome|FADH deficiency|fatty aldehyde dehydrogenase deficiency|ichthyosis, spastic neurologic disorder, and oligophrenia|Sjogren-Larsson syndrome	http://purl.obolibrary.org/obo/MONDO_0010031	SjC6gren-Larsson syndrome (SLS) is a neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.	MEDDRA:10048676|UMLS:C0037231|ORPHA:816|DOID:14501|SNOMEDCT:111303009|NCIT:C85070|http://identifiers.org/omim/270200|MESH:D016111
MONDO:0012691	LEOPARD syndrome 2	biolink:Disease	mondo	OMIM:611554|UMLS:C1969056|MESH:C537117|DOID:0080549		leopard syndrome 2|LEOPARD syndrome 2; LPRD2|LPRD2|Leopard syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0012691	Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the RAF1 gene.	http://identifiers.org/omim/611554|UMLS:C1969056|MESH:C537117|DOID:0080549
MONDO:0010030	Sjogren syndrome	biolink:Disease	mondo	MESH:D012859|GARD:0010252|SCTID:83901003|ICD9:710.2|OMIM:270150|ICD10:M35.00|ICD10:M35.0|EFO:0000699|Orphanet:289390|NCIT:C26883|DOID:12894	ordo_disease	xerodermosteosis|primary Sjögren syndrome|syndrome, Sjogren's|primary Sjogren-Gougerot syndrome|Sjögren syndrome|Sjogren's syndrome|Sjogren syndrome|primary Sjögren-Gougerot syndrome|sicca syndrome	http://purl.obolibrary.org/obo/MONDO_0010030	An autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjögren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of Sjögren syndrome are dry mouth and dry eyes. In addition, Sjogren syndrome may cause skin, nose, and vaginal dryness. It also may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain	MESH:D012859|http://identifiers.org/omim/270150|ORPHA:289390|DOID:12894|NCIT:C26883|SNOMEDCT:83901003
MONDO:0024663	primary skin meningioma	biolink:Disease	mondo	NCIT:C5277		primary cutaneous meningioma|primary skin meningioma|primary meningioma of skin|primary meningioma of the skin	http://purl.obolibrary.org/obo/MONDO_0024663		NCIT:C5277
MONDO:0000696	obsolete juvenile absence epilepsy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000696		
MONDO:0024662	colorectal tubulovillous adenoma	biolink:Disease	mondo	NCIT:C5675|UMLS:C1333118		tubulovillous adenoma of the large bowel|tubulovillous adenoma of large bowel|colorectal tubulovillous adenoma|large bowel tubulovillous adenoma	http://purl.obolibrary.org/obo/MONDO_0024662	A neoplasm that arises from the glandular epithelium of the colonic and rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features.	NCIT:C5675|UMLS:C1333118
MONDO:0000695	obsolete histidinemia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000695		
MONDO:0024665	indeterminate sex and/or pseudohermaphroditism	biolink:Disease	mondo	ICD9:752.7|SCTID:268229003|ICD10:Q56		gynandrism	http://purl.obolibrary.org/obo/MONDO_0024665		SNOMEDCT:268229003
MONDO:0000694	seasonal affective disorder	biolink:Disease	mondo	MESH:D016574|DOID:0060167|SCTID:247803002|ICD9:296.99		winter depression|seasonal affective disorder|sad|SADS	http://purl.obolibrary.org/obo/MONDO_0000694	A syndrome characterized by depressions that recur annually at the same time each year, usually during the winter months. Other symptoms include anxiety, irritability, decreased energy, increased appetite (carbohydrate cravings), increased duration of sleep, and weight gain. sad (seasonal affective disorder) can be treated by daily exposure to bright artificial lights (phototherapy), during the season of recurrence.	SNOMEDCT:247803002|DOID:0060167|MESH:D016574
MONDO:0024664	hypertension, pregnancy-induced	biolink:Disease	mondo	MESH:D046110|SCTID:48194001|NCIT:C9243		hypertension associated disorders of pregnancy|hypertensions, pregnancy induced|hypertension, gestational|gestational hypertension|hypertension induced by pregnancy|hypertension complicating pregnancy|induced Hypertensions, pregnancy|hypertension-associated pregnancy disorder|pregnancy-induced hypertension|pregnancy transient hypertension|induced hypertension, pregnancy|hypertension, pregnancy induced|pregnancy induced hypertension|hypertension, pregnancy transient|transient hypertension, pregnancy	http://purl.obolibrary.org/obo/MONDO_0024664	A hypertensive disorder that develops during pregnancy.	NCIT:C9243|SNOMEDCT:48194001|MESH:D046110
MONDO:0000693	bipolar II disorder	biolink:Disease	mondo	SCTID:83225003|DOID:0060166|ICD9:296.89		bipolar 2 disorder|bipolar ll disorder|bipolar II disorder	http://purl.obolibrary.org/obo/MONDO_0000693	A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes.	SNOMEDCT:83225003|DOID:0060166
HGNC:23845	SLX4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23845		
MONDO:0024666	benign epithelial skin neoplasm	biolink:Disease	mondo	UMLS:C0345981|NCIT:C7341		epithelial skin neoplasm, benign|benign epithelial skin neoplasm|benign skin epithelium tumor|benign skin epithelium neoplasm|benign epithelial skin tumor	http://purl.obolibrary.org/obo/MONDO_0024666	A form of epithelial skin neoplasm without malignant characteristics.	UMLS:C0345981|NCIT:C7341
MONDO:0000699	obsolete homocarnosinosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000699		
MONDO:0000698	gamma-amino butyric acid metabolism disorder	biolink:Disease	mondo	DOID:0060176			http://purl.obolibrary.org/obo/MONDO_0000698	An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway.	DOID:0060176
MONDO:0022007	water intoxication	biolink:Disease	mondo	UMLS:C0043049|SCTID:71785001|MESH:D014869		WATER INTOX|water intoxication syndrome|Water Intoxication|Water intoxication syndrome|Water intoxication	http://purl.obolibrary.org/obo/MONDO_0022007	A condition resulting from the excessive retention of water with sodium depletion.	SNOMEDCT:71785001|UMLS:C0043049|MESH:D014869
MONDO:0000697	obsolete succinic semialdehyde dehydrogenase deficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000697		
MONDO:0010019	secretory component deficiency	biolink:Disease	mondo	UMLS:C0398709|ICD9:279.03|SCTID:234554004|OMIM:269650|MESH:C562869		IgA deficiency, secretory|secretory component deficiency	http://purl.obolibrary.org/obo/MONDO_0010019		MESH:C562869|SNOMEDCT:234554004|UMLS:C0398709|http://identifiers.org/omim/269650
MONDO:0009029	cranial nerves, congenital paresis of	biolink:Disease	mondo	MESH:C565673|OMIM:218100|UMLS:C1857531		cranial nerves, congenital paresis of	http://purl.obolibrary.org/obo/MONDO_0009029		MESH:C565673|http://identifiers.org/omim/218100|UMLS:C1857531
MONDO:0010018	second metatarsal-metacarpal syndrome	biolink:Disease	mondo	MESH:C564824|UMLS:C1849259|OMIM:269630		second metatarsal-metacarpal syndrome	http://purl.obolibrary.org/obo/MONDO_0010018		http://identifiers.org/omim/269630|MESH:C564824|UMLS:C1849259
MONDO:0009028	Crane-Heise syndrome	biolink:Disease	mondo	GARD:0008428|SCTID:715991005|Orphanet:1512|ICD10:Q87.5|OMIM:218090|UMLS:C1857532|MESH:C536452	ordo_malformation_syndrome|gard_rare	cleft Lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus|Crane-Heise syndrome	http://purl.obolibrary.org/obo/MONDO_0009028	Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.	SNOMEDCT:715991005|http://identifiers.org/omim/218090|UMLS:C1857532|ORPHA:1512|MESH:C536452
MONDO:0009027	cramps, familial adolescent	biolink:Disease	mondo	OMIM:218050		cramps, familial adolescent	http://purl.obolibrary.org/obo/MONDO_0009027		http://identifiers.org/omim/218050
MONDO:0009026	Costello syndrome	biolink:Disease	mondo	MedDRA:10067380|UMLS:C0587248|GARD:0001550|Orphanet:3071|NCIT:C84652|ICD10:Q87.8|SCTID:309776008|DOID:0050469|OMIM:218040|ICD9:799.89|MESH:D056685	ordo_malformation_syndrome|gard_rare|clingen	Costello syndrome|Costello syndrome; CSTLO|FCS syndrome|CSTLO|faciocutaneoskeletal syndrome|myopathy, congenital, with excess of muscle spindles	http://purl.obolibrary.org/obo/MONDO_0009026	Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.	http://identifiers.org/omim/218040|UMLS:C0587248|NCIT:C84652|MEDDRA:10067380|ORPHA:3071|MESH:D056685|DOID:0050469|SNOMEDCT:309776008
MONDO:0000692	obsolete Kleine-Levin syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000692		
MONDO:0009025	apparent mineralocorticoid excess	biolink:Disease	mondo	OMIM:218030|SCTID:703256004|ICD10:E26.1|UMLS:C2936861|MESH:C537422|GARD:0000433|NCIT:C131083|DOID:0090121|Orphanet:320|UMLS:CN203981|UMLS:C3887949	ordo_disease|gard_rare	cortisol 11-Beta-ketoreductase deficiency|Ulick syndrome|Ame1|cortisol 11-beta-ketoreductase deficiency|AME|apparent mineralocorticoid EXCESS; AME|11 Beta-hydroxysteroid dehydrogenase type 2 deficiency|ape|11-beta-hydroxysteroid dehydrogenase deficiency type 2|AME 1|apparent mineralocorticoid excess	http://purl.obolibrary.org/obo/MONDO_0009025	Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.	http://identifiers.org/omim/218030|SNOMEDCT:703256004|UMLS:CN203981|MESH:D043204|MESH:C537422|UMLS:C2936861|ORPHA:320|NCIT:C131083|UMLS:C3887949|UMLS:C0342488|DOID:0090121
MONDO:0000691	obsolete pain disorder	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000691		
MONDO:0000690	body dysmorphic disorder	biolink:Disease	mondo	ICD10:F45.22|SCTID:83482000|DOID:0060163|MESH:D057215		body dysmorphia|dysmorphic syndrome|dysmorphophobia	http://purl.obolibrary.org/obo/MONDO_0000690	Preoccupations with appearance or self-image causing significant distress or impairment in important areas of functioning.	SNOMEDCT:83482000|DOID:0060163|MESH:D057215
MONDO:0024661	tubulovillous adenoma	biolink:Disease	mondo	UMLS:C0334307|NCIT:C4143|ICDO:8263/0		tubulovillous adenoma	http://purl.obolibrary.org/obo/MONDO_0024661	An epithelial neoplasm morphologically characterized by the presence of a villous and a tubular architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features.	NCIT:C4143|UMLS:C0334307
MONDO:0009024	cortical blindness-intellectual disability-polydactyly syndrome	biolink:Disease	mondo	UMLS:C1857568|GARD:0001548|Orphanet:1389|MESH:C565674|OMIM:218010	gard_rare|ordo_malformation_syndrome	cortical blindness, retardation, and postaxial polydactyly	http://purl.obolibrary.org/obo/MONDO_0009024	This syndrome is characterised by cortical blindness, intellectual deficit, and polydactyly.	http://identifiers.org/omim/218010|ORPHA:1389|UMLS:C1857568|MESH:C565674
MONDO:0024660	tubular adenoma	biolink:Disease	mondo	UMLS:C0334292|NCIT:C4133|SCTID:444408007|ICDO:8211/0		tubular adenoma|adenoma, tubular cell, benign	http://purl.obolibrary.org/obo/MONDO_0024660	A usually polypoid neoplasm arising from the glandular epithelium. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features. Representative examples include the tubular adenomas of the colon and rectum.	SNOMEDCT:444408007|NCIT:C4133|UMLS:C0334292
MONDO:0009023	obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0009023		
MONDO:0012685	major affective disorder 5	biolink:Disease	mondo	OMIM:611535|MESH:C567074		MAFD5|major affective disorder 5|bipolar affective disorder|MAJOR affective disorder 5; MAFD5	http://purl.obolibrary.org/obo/MONDO_0012685		http://identifiers.org/omim/611535|MESH:C567074
MONDO:0009022	corpus callosum, agenesis of	biolink:Disease	mondo	OMIM:217990|SCTID:5102002|MESH:D061085|GARD:0001535|NCIT:C98905		agenesis of the corpus callosum|ACC|isolated corpus callosum agenesis|corpus callosum agenesis|agenesis of corpus callosum|corpus callosum, agenesis of	http://purl.obolibrary.org/obo/MONDO_0009022	A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment.	NCIT:C98905|SNOMEDCT:5102002|MESH:D061085|http://identifiers.org/omim/217990
MONDO:0010022	senile plaque formation	biolink:Disease	mondo	OMIM:269800		senile plaque formation	http://purl.obolibrary.org/obo/MONDO_0010022		http://identifiers.org/omim/269800
MONDO:0012686	major affective disorder 6	biolink:Disease	mondo	OMIM:611536|MESH:C567075		MAFD6|major affective disorder 6|bipolar affective disorder|MAJOR affective disorder 6; MAFD6	http://purl.obolibrary.org/obo/MONDO_0012686		http://identifiers.org/omim/611536|MESH:C567075
MONDO:0009021	Toriello-Carey syndrome	biolink:Disease	mondo	ICD10:Q87.8|SCTID:722477003|MESH:C563127|UMLS:C0796184|Orphanet:3338|OMIM:217980|GARD:0005225	ordo_malformation_syndrome|gard_rare	corpus callosum agenesis facial anomalies Robin sequence|corpus callosum agenesis-blepharophimosis-Robin sequence syndrome|corpus callosum, agenesis of, with facial anomalies and ROBIN sequence|agenesis of corpus callosum with facial anomalies and Robin sequence|Toriello-Carey syndrome	http://purl.obolibrary.org/obo/MONDO_0009021	Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.	ORPHA:3338|UMLS:C0796184|http://identifiers.org/omim/217980|SNOMEDCT:722477003|MESH:C563127
MONDO:0010021	seizures, benign familial neonatal, autosomal recessive	biolink:Disease	mondo	OMIM:269720|GARD:0001519|MESH:C564823|UMLS:C1849250		convulsions, benign familial neonatal, autosomal recessive|convulsions benign familial neonatal dominant form|seizures, benign familial neonatal, autosomal recessive|Bfns, autosomal recessive|autosomal dominant form of benign neonatal seizures|epilepsy, benign familial neonatal, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0010021		http://identifiers.org/omim/269720|MESH:C564823|UMLS:C1849250
MONDO:0010024	Beemer-Langer syndrome	biolink:Disease	mondo	ICD10:Q77.2|ICD9:756.9|OMIM:269860|UMLS:C0432198|MESH:C537599|DOID:9249|Orphanet:93268|GARD:0004832|SCTID:254052001	ordo_malformation_syndrome	short rib-polydactyly syndrome Beemer type|short rib-polydactyly syndrome, type 4|short rib polydactyly syndrome Beemer-Langer type|SRPS type 4|short-rib thoracic dysplasia 12; SRTD12|short rib-polydactyly syndrome, Beemer-Langer type|Srps 4|short rib-polydactyly syndrome type 4|Beemer-Langer syndrome|short rib syndrome, Beemer type|type IV short rib polydactyly syndrome|SRTD12|short-rib thoracic dysplasia 12|Beemer Langer syndrome|short rib-polydactyly syndrome type IV	http://purl.obolibrary.org/obo/MONDO_0010024	Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.	SNOMEDCT:254052001|MESH:C537599|http://identifiers.org/omim/269860|UMLS:C0432198|DOID:9249|ORPHA:93268
MONDO:0009020	macular corneal dystrophy	biolink:Disease	mondo	OMIM:217800|MedDRA:10025406|GARD:0006953|NCIT:C34793|ICD10:H18.5|UMLS:C0024439|SCTID:60258001|ICD10:H18.55|DOID:2565|ICD9:371.55|Orphanet:98969	ordo_disease	macular dystrophy, corneal, 1|Groenouw type II corneal dystrophy|macular corneal dystrophy type 1|MCD|Fehr corneal dystrophy|macular dystrophy, corneal type 1|Mcdc1, formerly|Groenouw type 2 corneal dystrophy|MCD|corneal dystrophy, macular type|macular corneal dystrophy, type 2|macular corneal dystrophy, type 1|Mcdc1|macular dystrophy, corneal; MCD|macular dystrophy, corneal|corneal dystrophy Groenouw type II	http://purl.obolibrary.org/obo/MONDO_0009020	Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment.	MEDDRA:10025406|http://identifiers.org/omim/217800|SNOMEDCT:60258001|ORPHA:98969|NCIT:C34793|UMLS:C0024439|DOID:2565
MONDO:0012683	pontocerebellar hypoplasia type 6	biolink:Disease	mondo	UMLS:C1969084|DOID:0060275|MESH:C548074|OMIM:611523|SCTID:718606005|Orphanet:166073|GARD:0010710|ICD10:Q04.3	ordo_malformation_syndrome|gard_rare|clingen	pontocerebellar hypoplasia, type 6; PCH6|encephalopathy, fatal infantile, with mitochondrial respiratory chain defects|RARS2 non-syndromic pontocerebellar hypoplasia|encephalopathy fatal infantile with mitochondrial respiratory chain defects|fatal infantile encephalopathy with mitochondrial respiratory chain defects|non-syndromic pontocerebellar hypoplasia caused by mutation in RARS2|pontocerebellar hypoplasia, type 6|PCH6	http://purl.obolibrary.org/obo/MONDO_0012683	Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis.	MESH:C548074|http://identifiers.org/omim/611523|SNOMEDCT:718606005|UMLS:C1969084|DOID:0060275|ORPHA:166073
MONDO:0010023	combined immunodeficiency due to ZAP70 deficiency	biolink:Disease	mondo	OMIM:269840|GARD:0000387|SCTID:716378008|MESH:C536722|Orphanet:911|ICD10:D81.8	ordo_disease	immunodeficiency 48|selective T-cell defect|selective T-cell defect; STCD|IMD48|severe combined immunodeficiency due to ZAP70 deficiency|zeta-associated-protein 70 deficiency|STCD|immunodeficiency 48; IMD48|ZAP-70 deficiency	http://purl.obolibrary.org/obo/MONDO_0010023	Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.	SNOMEDCT:716378008|MESH:C536722|http://identifiers.org/omim/269840|ORPHA:911
MONDO:0012684	arrhythmogenic right ventricular dysplasia 12	biolink:Disease	mondo	DOID:0110083|OMIM:611528|UMLS:C1969081|ICD10:I42.8|MESH:C566925		arrhythmogenic right ventricular dysplasia, familial, 12|ARVD12|ARVC12|arrhythmogenic right ventricular dysplasia type 12|arrhythmogenic right ventricular dysplasia, familial, 12; ARVD12|JUP familial isolated arrhythmogenic right ventricular dysplasia|arrhythmogenic right ventricular cardiomyopathy 12|familial arrhythmogenic right ventricular dysplasia 12|arrhythmogenic right ventricular dysplasia, familial, type 12|familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in JUP	http://purl.obolibrary.org/obo/MONDO_0012684	Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the JUP gene.	http://identifiers.org/omim/611528|DOID:0110083|MESH:C566925|UMLS:C1969081
MONDO:0012689	premature ovarian failure 5	biolink:Disease	mondo	OMIM:611548|MESH:C566921|UMLS:C1969060		NOBOX primary ovarian failure|premature ovarian failure 5; Pof5|primary ovarian failure caused by mutation in NOBOX|Pof5|premature ovarian failure 5|premature ovarian failure type 5	http://purl.obolibrary.org/obo/MONDO_0012689	Any primary ovarian failure in which the cause of the disease is a mutation in the NOBOX gene.	http://identifiers.org/omim/611548|MESH:C566921|UMLS:C1969060
MONDO:0010026	SHORT syndrome	biolink:Disease	mondo	Orphanet:3163|MESH:C537327|UMLS:C0878684|OMIM:269880|ICD10:Q87.1|DOID:0111454|GARD:0007633	ordo_malformation_syndrome	Rieger anomaly-partial lipodystrophy syndrome|short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly and teething delay|lipodystrophy, partial, with Rieger anomaly and short stature|short syndrome|short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay|Aarskog-Ose-Pande syndrome|lipodystrophy-Rieger anomaly-diabetes syndrome|partial lipodystrophy with Rieger anomaly and short stature	http://purl.obolibrary.org/obo/MONDO_0010026	SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.	MESH:C537327|DOID:0111454|http://identifiers.org/omim/269880|UMLS:C0878684|ORPHA:3163
MONDO:0010025	short stature-obesity syndrome	biolink:Disease	mondo	MESH:C564821|UMLS:C1849235|OMIM:269870		short stature-obesity syndrome; SSOS|SSOS|short stature-obesity syndrome	http://purl.obolibrary.org/obo/MONDO_0010025		http://identifiers.org/omim/269870|UMLS:C1849235|MESH:C564821
MONDO:0010028	sialuria	biolink:Disease	mondo	ICD10:E77.8|DOID:3659|OMIM:269921|Orphanet:3166|MedDRA:10067529|SCTID:238051008|GARD:0004865|ICD9:796.4	ordo_disease	sialuria|sialuria, French type	http://purl.obolibrary.org/obo/MONDO_0010028	Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.	ORPHA:3166|MEDDRA:10067529|MESH:C537332|http://identifiers.org/omim/269921|DOID:3659|UMLS:C2931471|SNOMEDCT:238051008
MONDO:0012687	familial cavitary optic disc anomaly	biolink:Disease	mondo	Orphanet:464760|UMLS:C1969063|MESH:C566924|OMIM:611543	ordo_morphological_anomaly	CODA|familial CODA|cavitary optic DISC anomalies; CODA|cavitary optic DISC anomalies	http://purl.obolibrary.org/obo/MONDO_0012687		http://identifiers.org/omim/611543|MESH:C566924|UMLS:C1969063|ORPHA:464760
MONDO:0010027	free sialic acid storage disease, infantile form	biolink:Disease	mondo	MedDRA:10067532|GARD:0000175|Orphanet:309324|ICD10:E77.8|SCTID:34566007|OMIM:269920	gard_rare|ordo_clinical_subtype	infantile free sialic acid storage disease|N-acetylneuraminic acid storage disease|infantile sialic acid storage disorder|infantile sialic acid storage disease|Nana storage disease|sialuria, infantile form|ISSD|infantile sialic acid storage disease; ISSD	http://purl.obolibrary.org/obo/MONDO_0010027		MEDDRA:10067532|SNOMEDCT:34566007|http://identifiers.org/omim/269920|UMLS:C1963905|ORPHA:309324
MONDO:0012688	cataract 17 multiple types	biolink:Disease	mondo	MESH:C566923|DOID:0110270|ICD10:Q12.0|OMIM:611544|UMLS:C1969062		autosomal recessive congenital nuclear cataract 3|CTRCT17|cataract 17, multiple types; CTRCT17|cataract, congenital nuclear, autosomal recessive 3|early-onset non-syndromic cataract caused by mutation in CRYBB1|CRYBB1 early-onset non-syndromic cataract|cataract 17, multiple types|CATCN3|cataract 17, multiple types, with or without microcornea	http://purl.obolibrary.org/obo/MONDO_0012688	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB1 gene.	http://identifiers.org/omim/611544|MESH:C566923|DOID:0110270|UMLS:C1969062
MONDO:0024659	colorectal Kaposi sarcoma	biolink:Disease	mondo	NCIT:C96510|UMLS:C3272833		large intestinal Kaposi sarcoma|colorectal Kaposi sarcoma|large intestine Kaposi's sarcoma (disease)|Kaposi's sarcoma (disease) of large intestine	http://purl.obolibrary.org/obo/MONDO_0024659	A Kaposi sarcoma that arises from the colon or rectum.	NCIT:C96510|UMLS:C3272833
HP:0410280	Pediatric onset	biolink:PhenotypicFeature	mondo			Paediatric onset|Onset before adulthood	http://purl.obolibrary.org/obo/HP_0410280	Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset.	
MONDO:0012681	FEB7	biolink:Disease	mondo	MESH:C566929|DOID:0111311|UMLS:C1969087|OMIM:611515		febrile seizures, familial, 7|febrile seizures, familial, 7; FEB7|febrile convulsions, familial, 7|FEB7	http://purl.obolibrary.org/obo/MONDO_0012681		http://identifiers.org/omim/611515|DOID:0111311|MESH:C566929|UMLS:C1969087
MONDO:0012682	susceptibility to infection due to TYK2 deficiency	biolink:Disease	mondo	UMLS:C1969086|Orphanet:331226|MESH:C566928|OMIM:611521|ICD10:D82.4	predisposition|ordo_disease	immunodeficiency type 35|immunodeficiency 35|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in TYK2|hyper-IgE syndrome with atypical Mycobacteriosis, autosomal recessive|TYK2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency|tyrosine kinase 2 deficiency|IMD35|HIES with atypical Mycobacteriosis, autosomal recessive|immunodeficiency 35; IMD35|TYK2 deficiency|autosomal recessive hyper-IgE syndrome due to TYK2 deficiency	http://purl.obolibrary.org/obo/MONDO_0012682	Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency in which the cause of the disease is a mutation in the TYK2 gene.	http://identifiers.org/omim/611521|MESH:C566928|ORPHA:331226|UMLS:C1969086
MONDO:0010020	congenital generalized lipodystrophy type 2	biolink:Disease	mondo	OMIM:269700|GARD:0010212|ICD10:E88.1|DOID:0111136	gard_rare	congenital generalized lipodystrophy (disease) caused by mutation in BSCL2|Berardinelli-Seip congenital lipodystrophy type 2|lipoatrophic diabetes, congenital|Berardinelli-Seip congenital lipodystrophy, type 2|lipodystrophy, congenital generalized, type 2|CGL2|lipodystrophy, total, and acromegaloid gigantism|congenital lipoatrophic diabetes|BSCL2 congenital generalized lipodystrophy (disease)|Berardinelli-Seip syndrome|Seip syndrome|BSCL2-related Brunzell syndrome|Berardinelli Seip congenital lipodystrophy type 2|Brunzell syndrome, BSCL2-related|Berardinelli syndrome|total lipodystrophy and acromegaloid gigantism|Brunzell syndrome BSCL2-related|lipodystrophy, Berardinelli-Seip congenital, type 2|lipodystrophy, congenital generalized, type 2; CGL2	http://purl.obolibrary.org/obo/MONDO_0010020	Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the BSCL2 gene.	DOID:0111136|http://identifiers.org/omim/269700
MONDO:0012680	nephronophthisis 7	biolink:Disease	mondo	MESH:C566930|OMIM:611498|DOID:0111116|UMLS:C1969092		nephronophthisis type 7|GLIS2 nephronophthisis (disease)|NPHP7|nephronophthisis (disease) caused by mutation in GLIS2|nephronophthisis 7; NPHP7|nephronophthisis 7	http://purl.obolibrary.org/obo/MONDO_0012680	Any nephronophthisis in which the cause of the disease is a mutation in the GLIS2 gene.	http://identifiers.org/omim/611498|DOID:0111116|MESH:C566930|UMLS:C1969092
MONDO:0024652	embryonic cyst of fallopian tube	biolink:Disease	mondo	SCTID:302954008|ICD10:Q50.4		cyst of mesenteric remnant|embryonic cyst of fallopian tube	http://purl.obolibrary.org/obo/MONDO_0024652		SNOMEDCT:302954008
MONDO:0024651	corticosteroid-induced osteoporosis	biolink:Disease	mondo	UMLS:C1272167|SCTID:390833005|ICD9:733.09		osteoporosis due to corticosteroid|osteoporosis caused by corticosteroid	http://purl.obolibrary.org/obo/MONDO_0024651		SNOMEDCT:390833005|UMLS:C1272167
MONDO:0024654	skull disorder	biolink:Disease	mondo	SCTID:118945008|NCIT:C27655|UMLS:C1290854		skull disease or disorder|skull disease|disease of skull|disorder of skull|skull disorder|disorder of skull|disease or disorder of skull	http://purl.obolibrary.org/obo/MONDO_0024654	A non-neoplastic or neoplastic disorder that affects structures of the skull.	UMLS:C1290854|SNOMEDCT:118945008|NCIT:C27655
MONDO:0024653	skull neoplasm	biolink:Disease	mondo	NCIT:C3375|SCTID:126538005|UMLS:C0037305|ICD9:239.2		skull neoplasm|neoplasm of skull|tumor of the skull|skull tumor|neoplasm of the skull|tumor of skull	http://purl.obolibrary.org/obo/MONDO_0024653	A benign or malignant neoplasm that affects the bones and structures of the skull.	NCIT:C3375|UMLS:C0037305|SNOMEDCT:126538005
HP:0011420	Age of death	biolink:PhenotypicFeature	mondo	UMLS:C1546180			http://purl.obolibrary.org/obo/HP_0011420	The age group when the cessation of life happens.	
MONDO:0024656	colorectal lymphoma	biolink:Disease	mondo	NCIT:C96498|UMLS:C3272822		large intestine lymphoma|primary colorectal lymphoma|large intestinal lymphoma|colorectal lymphoma|lymphoma of large intestine	http://purl.obolibrary.org/obo/MONDO_0024656	An extranodal lymphoma that arises from the colon or rectum. The majority are B-cell non-Hodgkin lymphomas.	NCIT:C96498|UMLS:C3272822
MONDO:0024655	rheumatic pericarditis	biolink:Disease	mondo	SCTID:28381002|UMLS:C0264747		rheumatic pericarditis	http://purl.obolibrary.org/obo/MONDO_0024655		SNOMEDCT:28381002|UMLS:C0264747
MONDO:0024658	extrahepatic bile duct sarcoma	biolink:Disease	mondo	NCIT:C5029|UMLS:C2205442		sarcoma of the extrahepatic bile duct|extrahepatic bile duct sarcoma|sarcoma of extrahepatic bile duct	http://purl.obolibrary.org/obo/MONDO_0024658	A malignant soft tissue neoplasm that arises from the extrahepatic bile ducts. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma.	NCIT:C5029|UMLS:C2205442
MONDO:0024657	obsolete macrocystic neurilemmoma	biolink:Disease	mondo	DOID:3203			http://purl.obolibrary.org/obo/MONDO_0024657		DOID:3203
MONDO:0010008	sarcosinemia	biolink:Disease	mondo	Orphanet:3129|ICD9:270.8|MESH:C537236|SCTID:64852002|GARD:0000158|MedDRA:10059299|UMLS:C0268563|ICD10:E72.5|OMIM:268900	ordo_disease|gard_rare	SARD deficiency|sarcosinemia|sarcosine dehydrogenase complex deficiency|hypersarcosinemia|SARCOS|SARDH deficiency|sarcosinemia; SARCOS	http://purl.obolibrary.org/obo/MONDO_0010008	Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency.	SNOMEDCT:64852002|ORPHA:3129|UMLS:C0268563|MESH:C537236|MEDDRA:10059299|http://identifiers.org/omim/268900
MONDO:0010007	microbrachycephaly-ptosis-cleft lip syndrome	biolink:Disease	mondo	OMIM:268850|UMLS:C0796142|Orphanet:2511|GARD:0003596|ICD10:Q87.8	ordo_malformation_syndrome|gard_rare	sao Paulo MCA/Mr syndrome|Richieri Costa-Guion Almeida-Ramos syndrome|short stature, mental retardation, eye anomalies, and cleft Lip/palate|short stature, intellectual disability, eye anomalies, and cleft Lip/palate|Richieri-COSTA/Guion-Almeida syndrome|microbrachycephaly ptosis cleft lip	http://purl.obolibrary.org/obo/MONDO_0010007	Microbrachycephaly-ptosis-cleft lip syndrome is characterised by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive.	UMLS:C0796142|ORPHA:2511|http://identifiers.org/omim/268850
MONDO:0009039	Baller-Gerold syndrome	biolink:Disease	mondo	Orphanet:1225|MESH:C536788|OMIM:218600|GARD:0001602|ICD10:Q75.0|DOID:0050654|SCTID:77608001|UMLS:C0265308	gard_rare|ordo_malformation_syndrome	craniosynostosis with radial defects|BGS|BALLER-Gerold syndrome; BGS|Baller-Gerold syndrome|craniosynostosis-radial aplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0009039	Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).	http://identifiers.org/omim/218600|SNOMEDCT:77608001|ORPHA:1225|UMLS:C0265308|DOID:0050654|MESH:C536788
MONDO:0012669	Legius syndrome	biolink:Disease	mondo	GARD:0010714|UMLS:C1969623|OMIM:611431|Orphanet:137605|SCTID:703541007|ICD10:Q85.0|ICD9:709.09|MESH:C548032	gard_rare|ordo_malformation_syndrome	neurofibromatosis type 1 like syndrome|Legius syndrome|neurofibromatosis type 1-like syndrome|neurofibromatosis 1-like syndrome|NF1-like syndrome	http://purl.obolibrary.org/obo/MONDO_0012669	Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling.	ORPHA:137605|SNOMEDCT:703541007|http://identifiers.org/omim/611431|MESH:C548032|UMLS:C1969623
MONDO:0010009	SC phocomelia syndrome	biolink:Disease	mondo	OMIM:269000|DOID:0050536|NCIT:C4681		pseudothalidomide syndrome|hypomelia hypotrichosis Facial hemangioma syndrome|SC phocomelia syndrome|SC pseudothalidomide syndrome|Roberts-SC phocomelia syndrome|phocomelia-pseudothalidomide syndrome|Roberts-SC phocomelia syndrome	http://purl.obolibrary.org/obo/MONDO_0010009	A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities. It is considered to be a mild variant of Roberts syndrome.	NCIT:C4681|http://identifiers.org/omim/269000|DOID:0050536
MONDO:0009038	craniosynostosis-fibular aplasia syndrome	biolink:Disease	mondo	SCTID:732250002|ICD10:Q87.2|Orphanet:1533|MESH:C565665|OMIM:218550|UMLS:C1857492	ordo_malformation_syndrome	craniosynostosis with fibular aplasia|Lowry syndrome	http://purl.obolibrary.org/obo/MONDO_0009038	Craniosynostosis-fibular aplasia is an extremely rare genetic disease, reported in only 2 brothers to date, characterized by the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal and an autosomal recessive mode of inheritance has been proposed. There have been no further reports in the literature since 1972.	http://identifiers.org/omim/218550|UMLS:C1857492|SNOMEDCT:732250002|ORPHA:1533|MESH:C565665
MONDO:0009037	craniosynostosis with anomalies of the cranial base and digits	biolink:Disease	mondo	OMIM:218530|MESH:C565666|UMLS:C1857493		craniosynostosis with anomalies of the cranial base and digits	http://purl.obolibrary.org/obo/MONDO_0009037		http://identifiers.org/omim/218530|UMLS:C1857493|MESH:C565666
MONDO:0009036	cardiocranial syndrome, Pfeiffer type	biolink:Disease	mondo	UMLS:C1857495|GARD:0008586|Orphanet:2872|MESH:C535578|ICD10:Q87.8|OMIM:218450|SCTID:720606005	ordo_malformation_syndrome	Pfeiffer Cardiocranial syndrome|craniosynostosis-congenital heart disease-intellectual disability syndrome|sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis|Cardiocranial syndrome|craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis|Pfeiffer-type cardiocranial syndrome|Pfeiffer Singer Zschiesche syndrome|Pfeiffer-Singer-Zschiesche syndrome	http://purl.obolibrary.org/obo/MONDO_0009036	Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit).	http://identifiers.org/omim/218450|SNOMEDCT:720606005|UMLS:C1857495|ORPHA:2872|MESH:C535578
MONDO:0009035	craniometaphyseal dysplasia, autosomal recessive	biolink:Disease	mondo	GARD:0001582|MESH:C536570|OMIM:218400		craniometaphyseal dysplasia, autosomal recessive; CMDR|craniometaphyseal dysplasia, autosomal recessive type|craniometaphyseal dysplasia, autosomal recessive|CMDR|autosomal recessive craniometaphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0009035	Autosomal recessive form of craniometaphyseal dysplasia.	http://identifiers.org/omim/218400|MESH:C536570
MONDO:0024650	drug-induced osteoporosis	biolink:Disease	mondo	SCTID:14651005|ICD9:733.09		drug-induced osteoporosis	http://purl.obolibrary.org/obo/MONDO_0024650		SNOMEDCT:14651005
MONDO:0009034	craniofacial dyssynostosis	biolink:Disease	mondo	Orphanet:1516|MESH:C536455|GARD:0001575|UMLS:C1857511|ICD10:Q87.0|OMIM:218350	ordo_malformation_syndrome|gard_rare	craniofacial dyssynostosis with short stature|bilateral lambdoid and sagittal synostosis|craniofacial dyssynostosis and short stature|craniosynostosis-craniofacial dysostosis syndrome	http://purl.obolibrary.org/obo/MONDO_0009034	Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull and hydrocephalus.	http://identifiers.org/omim/218350|UMLS:C1857511|ORPHA:1516|MESH:C536455
MONDO:0009033	temtamy syndrome	biolink:Disease	mondo	ICD10:Q87.8|SCTID:719947004|Orphanet:1777|UMLS:C1857512|GARD:0005688|OMIM:218340|NCIT:C148371|MESH:C536959|DOID:0111621	ordo_malformation_syndrome|gard_rare	intellectual disability with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum|Dysmorphism, corpus callosum agenesis and colobomas|TEMTAMY syndrome; TEMTYS|TEMTYS|mental retardation with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|Temtamy-Shalash syndrome|craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation|temtamy syndrome	http://purl.obolibrary.org/obo/MONDO_0009033	Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	SNOMEDCT:719947004|NCIT:C148371|http://identifiers.org/omim/218340|UMLS:C1857512|ORPHA:1777|DOID:0111621|MESH:C536959
MONDO:0012674	age related macular degeneration 10	biolink:Disease	mondo	UMLS:C1969108|OMIM:611488|DOID:0110022|MESH:C566935		macular degeneration, age-related, 10; ARMD10|age-related macular degeneration caused by mutation in TLR4|macular degeneration, age-related, 10|macular Degeneration, age-related, type 10|age related macular degeneration type 10|TLR4 age-related macular degeneration|ARMD10	http://purl.obolibrary.org/obo/MONDO_0012674	Any age-related macular degeneration in which the cause of the disease is a mutation in the TLR4 gene.	http://identifiers.org/omim/611488|DOID:0110022|MESH:C566935|UMLS:C1969108
MONDO:0010011	schizencephaly	biolink:Disease	mondo	ICD10:Q04.6|Orphanet:799|NCIT:C99056|GARD:0000166|SCTID:253159001|OMIM:269160|ICD9:742.4	ordo_disease|gard_rare	schizencephaly	http://purl.obolibrary.org/obo/MONDO_0010011	Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation.	http://identifiers.org/omim/269160|ORPHA:799|NCIT:C99056|SNOMEDCT:253159001
MONDO:0009032	cranioectodermal dysplasia	biolink:Disease	mondo	OMIMPS:218330|GARD:0000359|UMLS:CN016627|Orphanet:1515|UMLS:C0432235|NCIT:C129305|ICD10:Q87.5|ICD9:756.9|DOID:0050577|SCTID:254093009|UMLS:CN119432	ordo_malformation_syndrome	CED|cranioectodermal dysplasia|Sensenbrenner syndrome|Levin syndrome	http://purl.obolibrary.org/obo/MONDO_0009032	Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).	SNOMEDCT:254093009|UMLS:CN016627|UMLS:CN119432|NCIT:C129305|ORPHA:1515|DOID:0050577|UMLS:C0432235
MONDO:0010010	Schinzel-Giedion syndrome	biolink:Disease	mondo	MedDRA:10063540|SCTID:18899000|GARD:0000117|OMIM:269150|MESH:C536632|Orphanet:798|ICD9:759.89|UMLS:C0265227|ICD10:Q87.0|NCIT:C129308	gard_rare|ordo_malformation_syndrome	Schinzel Giedion midface-retraction syndrome|Sgs|Schinzel-Giedion syndrome|SGS|Schinzel-Giedion midface retraction syndrome|Schinzel Giedion syndrome|Schinzel-Giedion midface-retraction syndrome	http://purl.obolibrary.org/obo/MONDO_0010010	Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.	NCIT:C129308|http://identifiers.org/omim/269150|UMLS:C0265227|MESH:C536632|ORPHA:798|MEDDRA:10063540|SNOMEDCT:18899000
MONDO:0012675	corticosteroid-binding globulin deficiency	biolink:Disease	mondo	OMIM:611489|ICD10:E27.8|Orphanet:199247|DOID:0090030|GARD:0013101|UMLS:C1852529	gard_rare|ordo_disease	CBG deficiency|transcortin deficiency|corticosteroid-binding globulin deficiency|corticosteroid-binding globulin, elevated|Transcortin deficiency|Cbg deficiency	http://purl.obolibrary.org/obo/MONDO_0012675	Corticosteroid-binding globulin deficiency is a genetic disorder characterized by extreme tiredness (fatigue), particularly after physical exertion, and low blood pressure (hypotension). Corticosteroid-binding globulin (CBG) is a protein primarily produced in the liver that attaches to cortisol, a hormone with numerous functions, including maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation.When cortisol is needed in the body, CBG delivers the cortisol where it is needed and releases it. Signs and symptoms of CBG deficiency vary. While some individuals may experience no symptoms, others are found to have a fatty liver and chronic pain. Some people with CBG deficiency also have chronic fatigue syndrome. CGB deficiency is caused by mutations in the SERPINA6 gene. The SERPINA6 gene is commonly also referred to as the CBG gene. Both autosomal dominant and autosomal recessive inheritance have been reported.While there is still no cure, treatment options will depend on the type and severity of symptoms present and may involve several specialists.	http://identifiers.org/omim/611489|DOID:0090030|ORPHA:199247|UMLS:C1852529
MONDO:0010013	schneckenbecken dysplasia	biolink:Disease	mondo	SCTID:254049009|OMIM:269250|ICD9:756.9|GARD:0000169|DOID:0050775|ICD10:Q77.7|Orphanet:3144|UMLS:C0432194|MESH:C536637	gard_rare|ordo_malformation_syndrome	chondrodysplasia, lethal neonatal, with snail-like pelvis|chondrodysplasia lethal neonatal with snail like pelvis|SLC35D1-CDG|schneckenbecken dysplasia; SHNKND|chondrodysplasia with snail-like pelvis|SHNKND|schneckenbecken dysplasia	http://purl.obolibrary.org/obo/MONDO_0010013	Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.	ORPHA:3144|http://identifiers.org/omim/269250|UMLS:C0432194|DOID:0050775|MESH:C536637|SNOMEDCT:254049009
MONDO:0012672	cholelithiasis	biolink:Disease	mondo	SCTID:266474003|ICD9:574|ICD9:574.5|ICD9:574.20|DOID:10211|EFO:0004799|MESH:D002769|NCIT:C122822|UMLS:C0008350|OMIM:611465		gallbladder disease 4; GBD4|GBD4|gallbladder disease 4|gallstones|gallbladder disease type 4	http://purl.obolibrary.org/obo/MONDO_0012672	The presence of calculi in the gallbladder.	MESH:D002769|NCIT:C122822|http://identifiers.org/omim/611465|UMLS:C0008350|SNOMEDCT:266474003|DOID:10211
MONDO:0009031	craniodiaphyseal dysplasia	biolink:Disease	mondo	MESH:C562940|UMLS:C0410539|GARD:0001567|Orphanet:1513|SCTID:205506004|NCIT:C131429|ICD9:756.59|OMIM:218300|DOID:0080032|ICD10:M85.2	ordo_malformation_syndrome|gard_rare	CDD|craniodiaphyseal dysplasia|craniodiaphyseal dysplasia; CDD|Lionitis	http://purl.obolibrary.org/obo/MONDO_0009031	Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.	MESH:C562940|http://identifiers.org/omim/218300|DOID:0080032|UMLS:C0410539|ORPHA:1513|NCIT:C131429|http://identifiers.org/omim/122860|SNOMEDCT:205506004
MONDO:0010012	autoimmune polyendocrinopathy type 2	biolink:Disease	mondo	GARD:0007611|ICD10:E31.0|Orphanet:3143|OMIM:269200|SCTID:83728000|ICD9:258.8|DOID:0050168|NCIT:C129728	ordo_disease	autoimmune polyendocrine syndrome, type II|polyglandular autoimmune syndrome, type 2|PGA 2|autoimmune polyendocrine syndrome type 2|autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome|polyglandular deficiency syndrome type 2|multiple endocrine deficiency syndrome, type 2|autoimmune polyendocrine syndrome, type II; APS2|APS 2|diabetes mellitus, Addison disease, myxedema|diabetes mellitus, Addison's disease, myxedema|autoimmune polyglandular syndrome type 2|Schmidt's syndrome|APS type 2|polyendocrine autoimmune syndrome, type 2|APS2|Schmidt syndrome	http://purl.obolibrary.org/obo/MONDO_0010012	Autoimmune polyglandular syndrome of likely polygenic etiology characterized by the presence of primary adrenal insufficiency in association with autoimmune thyroiditis and/or type 1 diabetes mellitus; this condition is not associated with mucocutaneous candidiasis.	SNOMEDCT:83728000|http://identifiers.org/omim/269200|DOID:0050168|NCIT:C129728|ORPHA:3143
MONDO:0012673	CRCS2	biolink:Disease	mondo	OMIM:611469	predisposition	colorectal cancer, susceptibility to, on chromosome 8Q24|colorectal cancer, susceptibility to, 2|CRCS2|colorectal cancer, susceptibility to, 2; CRCS2	http://purl.obolibrary.org/obo/MONDO_0012673		http://identifiers.org/omim/611469
MONDO:0009030	cranial nerves, recurrent paresis of	biolink:Disease	mondo	UMLS:C1857530|MESH:C565672|OMIM:218200		cranial nerves, recurrent paresis of	http://purl.obolibrary.org/obo/MONDO_0009030		http://identifiers.org/omim/218200|UMLS:C1857530|MESH:C565672
MONDO:0010015	anterior segment dysgenesis 7	biolink:Disease	mondo	DOID:0060648|Orphanet:289499|OMIM:269400|UMLS:C3151617	ordo_malformation_syndrome	sclerocornea with Other ocular anomalies|sclerocornea with other ocular anomalies|CCMCO|ASGD7|corneal opacification and other ocular anomalies|congenital cataract microcornea with corneal opacity|anterior segment dysgenesis 7; ASGD7|corneal opacification with Other ocular anomalies|COPOA|PXDN anterior segment dysgenesis|corneal opacification with other ocular anomalies; COPOA|anterior segment dysgenesis caused by mutation in PXDN|corneal opacification with other ocular anomalies	http://purl.obolibrary.org/obo/MONDO_0010015	Any anterior segment dysgenesis in which the cause of the disease is a mutation in the PXDN gene.	http://identifiers.org/omim/269400|UMLS:C3151617|DOID:0060648|ORPHA:289499
MONDO:0012678	ATFB5	biolink:Disease	mondo	MESH:C566932|UMLS:C1969099|OMIM:611494		ATFB5|atrial fibrillation, familial, 5|atrial fibrillation, familial, 5; ATFB5	http://purl.obolibrary.org/obo/MONDO_0012678		http://identifiers.org/omim/611494|MESH:C566932|UMLS:C1969099
MONDO:0010014	craniometadiaphyseal dysplasia, wormian bone type	biolink:Disease	mondo	ICD10:Q78.8|OMIM:269300|Orphanet:85184|SCTID:278833002	ordo_malformation_syndrome	CRMDD|CRANIOMETADIAPHYSEAL dysplasia; CRMDD|CRANIOMETADIAPHYSEAL dysplasia|Schwartz-Lelek syndrome	http://purl.obolibrary.org/obo/MONDO_0010014	Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted.	SNOMEDCT:278833002|ORPHA:85184|http://identifiers.org/omim/269300
MONDO:0012679	autosomal recessive osteopetrosis 6	biolink:Disease	mondo	OMIM:611497|MESH:C566931|UMLS:C1969093|DOID:0110945|ICD10:Q78.2|GARD:0004156|Orphanet:210110	gard_rare|ordo_malformation_syndrome	autosomal recessive intermediate osteopetrosis|osteopetrosis, autosomal recessive 6; OPTB6|osteopetrosis autosomal recessive intermediate form|osteopetrosis (disease) caused by mutation in PLEKHM1|autosomal recessive osteopetrosis intermediate form|osteopetrosis, autosomal recessive type 6|osteopetrosis, autosomal recessive, Intermediate form|intermediate osteopetrosis|osteopetrosis autosomal recessive 6|OPTB6|autosomal recessive osteopetrosis type 6|PLEKHM1 osteopetrosis (disease)|osteopetrosis, autosomal recessive 6	http://purl.obolibrary.org/obo/MONDO_0012679	Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the PLEKHM1 gene.	http://identifiers.org/omim/611497|MESH:C566931|UMLS:C0432261|UMLS:C1969093|ORPHA:210110|DOID:0110945
MONDO:0012676	autosomal recessive osteopetrosis 4	biolink:Disease	mondo	MESH:C566933|DOID:0110944|OMIM:611490|GARD:0005993	gard_rare	autosomal recessive osteopetrosis caused by mutation in CLCN7|osteopetrosis, autosomal recessive type 4|infantile malignant osteopetrosis 2|osteopetrosis infantile malignant 2|autosomal recessive malignant osteopetrosis caused by mutation in CLCN7|OPTB4|osteopetrosis, autosomal recessive 4|CLCN7 autosomal recessive osteopetrosis|osteopetrosis, infantile malignant 2|CLCN7 autosomal recessive malignant osteopetrosis|osteopetrosis autosomal recessive 4|osteopetrosis, autosomal recessive 4; OPTB4|autosomal recessive osteopetrosis type 4	http://purl.obolibrary.org/obo/MONDO_0012676	Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the CLCN7 gene.	http://identifiers.org/omim/611490|MESH:C566933|DOID:0110944
MONDO:0010017	sea-blue histiocyte syndrome	biolink:Disease	mondo	EFO:1001170|Orphanet:158029|SCTID:37821003|NCIT:C85062|GARD:0008241|DOID:4423|MESH:D012618|OMIM:269600|ICD10:D76.3|UMLS:C0036489	clingen|ordo_disease	SEA-blue histiocyte disease|histiocytosis, Sea-blue|sea-blue histiocytosis|inherited Lipemic splenomegaly	http://purl.obolibrary.org/obo/MONDO_0010017	A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly.	SNOMEDCT:37821003|DOID:4423|ORPHA:158029|http://identifiers.org/omim/269600|MESH:D012618|UMLS:C0036489|NCIT:C85062
MONDO:0012677	atrial fibrillation, familial, 4	biolink:Disease	mondo	MESH:C566244|OMIM:611493|UMLS:C1862394		ATFB4|atrial fibrillation, familial, type 4|familial atrial fibrillation caused by mutation in KCNE2|KCNE2 familial atrial fibrillation|atrial fibrillation, familial, 4|atrial fibrillation, familial, 4; ATFB4	http://purl.obolibrary.org/obo/MONDO_0012677	Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNE2 gene.	UMLS:C1862394|MESH:C566244|http://identifiers.org/omim/611493
MONDO:0010016	sclerosteosis 1	biolink:Disease	mondo	ICD10:M85.2|DOID:0060756|UMLS:CN032489|OMIM:269500		sclerosteosis 1; SOST1|SOST sclerosteosis|SOST1|sclerosteosis 1|sclerosteosis type 1|cortical hyperostosis with syndactyly|SOST|sclerosteosis caused by mutation in SOST	http://purl.obolibrary.org/obo/MONDO_0010016	Any sclerosteosis in which the cause of the disease is a mutation in the SOST gene.	UMLS:CN032489|http://identifiers.org/omim/269500|DOID:0060756
HGNC:11875	TMPO	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11875		
MONDO:0024649	optic tract astrocytoma	biolink:Disease	mondo	UMLS:C1336971|NCIT:C7533		astrocytoma (excluding glioblastoma) of optic tract|visual pathway astrocytoma|optic tract astrocytoma (excluding glioblastoma)|optic tract astrocytoma	http://purl.obolibrary.org/obo/MONDO_0024649	An astrocytoma that affects the optic tract. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group.	UMLS:C1336971|NCIT:C7533
MONDO:0024648	optic tract meningioma	biolink:Disease	mondo	UMLS:C1336972|NCIT:C5587		visual pathway meningioma|meningioma of visual pathway|meningioma of the visual pathway|optic tract meningioma|optic tract meningioma (disease)|meningioma of the optic tract|meningioma (disease) of optic tract|meningioma of optic tract	http://purl.obolibrary.org/obo/MONDO_0024648	A meningioma that affects the visual pathway.	NCIT:C5587|UMLS:C1336972
MONDO:0012670	autosomal recessive nonsyndromic deafness 63	biolink:Disease	mondo	OMIM:611451|ICD10:H90.3|MESH:C566951|DOID:0110515|UMLS:C1969621		deafness, autosomal recessive 63|deafness, autosomal recessive 63; DFNB63|LRTOMT autosomal recessive nonsyndromic deafness|autosomal recessive deafness 63|deafness, autosomal recessive type 63|DFNB63|autosomal recessive nonsyndromic deafness type 63|autosomal recessive nonsyndromic deafness caused by mutation in LRTOMT	http://purl.obolibrary.org/obo/MONDO_0012670	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LRTOMT gene.	http://identifiers.org/omim/611451|MESH:C566951|DOID:0110515|UMLS:C1969621
MONDO:0012671	ETM3	biolink:Disease	mondo	OMIM:611456|MESH:C566949|UMLS:C1969617|DOID:0111430		ETM3|tremor, hereditary essential, 3|tremor, hereditary essential, 3; ETM3	http://purl.obolibrary.org/obo/MONDO_0012671		http://identifiers.org/omim/611456|MESH:C566949|DOID:0111430|UMLS:C1969617
GO:0051234	establishment of localization	biolink:OntologyClass	mondo			establishment of localisation	http://purl.obolibrary.org/obo/GO_0051234	Any process that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation.	
GO:0051235	maintenance of location	biolink:OntologyClass	mondo			maintenance of localization|retention|storage|sequestering	http://purl.obolibrary.org/obo/GO_0051235	Any process in which a cell, substance or cellular entity, such as a protein complex or organelle, is maintained in a location and prevented from moving elsewhere.	
GO:0051239	regulation of multicellular organismal process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0051239	Any process that modulates the frequency, rate or extent of a multicellular organismal process, the processes pertinent to the function of a multicellular organism above the cellular level; includes the integrated processes of tissues and organs.	
NCBITaxon:6951	Astigmata	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6951		
GO:0016903	oxidoreductase activity, acting on the aldehyde or oxo group of donors	biolink:OntologyClass	mondo			oxidoreductase activity, acting on the aldehyde or oxo group of donors, other acceptors	http://purl.obolibrary.org/obo/GO_0016903	Catalysis of an oxidation-reduction (redox) reaction in which an aldehyde or ketone (oxo) group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor.	
CHEBI:26020	phosphate	biolink:ChemicalSubstance	mondo			phosphates|phosphates	http://purl.obolibrary.org/obo/CHEBI_26020	Salts and esters of phosphoric and oligophosphoric acids and their chalcogen analogues. In inorganic chemistry, the term is also used to describe anionic coordination entities with phosphorus as central atom.	
GO:2000860	positive regulation of aldosterone secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000860	Any process that activates or increases the frequency, rate or extent of aldosterone secretion.	
HGNC:11843	TLL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11843		
HGNC:6758	MAB21L2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6758		
NCBITaxon:6960	Hexapoda	organism taxon	mondo	GC_ID:1		Uniramia|Atelocerata|insects|Tracheata|insects	http://purl.obolibrary.org/obo/NCBITaxon_6960		
GO:0051247	positive regulation of protein metabolic process	biolink:OntologyClass	mondo			up-regulation of protein metabolic process|positive regulation of protein metabolism|up regulation of protein metabolic process|activation of protein metabolic process|stimulation of protein metabolic process|upregulation of protein metabolic process	http://purl.obolibrary.org/obo/GO_0051247	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a protein.	
GO:0051248	negative regulation of protein metabolic process	biolink:OntologyClass	mondo			down-regulation of protein metabolic process|down regulation of protein metabolic process|negative regulation of protein metabolism|inhibition of protein metabolic process|downregulation of protein metabolic process	http://purl.obolibrary.org/obo/GO_0051248	Any process that stops, prevents, or reduces the frequency, rate or extent of chemical reactions and pathways involving a protein.	
GO:0051245	negative regulation of cellular defense response	biolink:OntologyClass	mondo			down regulation of cellular defense response|downregulation of cellular defense response|inhibition of cellular defense response|negative regulation of cellular defence response|down-regulation of cellular defense response	http://purl.obolibrary.org/obo/GO_0051245	Any process that stops, prevents, or reduces the rate of the cellular defense response.	
GO:0051246	regulation of protein metabolic process	biolink:OntologyClass	mondo			regulation of protein metabolism	http://purl.obolibrary.org/obo/GO_0051246	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a protein.	
MONDO:0000601	autoimmune disease of urogenital tract	biolink:Disease	mondo	DOID:0060049		genitourinary system autoimmune disease|genitourinary system hypersensitivity reaction type II disease|autoimmune disease of genitourinary system	http://purl.obolibrary.org/obo/MONDO_0000601	A hypersensitivity reaction type II disease that involves the genitourinary system.	DOID:0060049
MONDO:0000600	nosophobia	biolink:Disease	mondo	DOID:0060048|EFO:1001903			http://purl.obolibrary.org/obo/MONDO_0000600	A specific phobia that involves an irrational fear of contracting a disease.	DOID:0060048
GO:0051249	regulation of lymphocyte activation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0051249	Any process that modulates the frequency, rate or extent of lymphocyte activation.	
HGNC:11849	TLR3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11849		
HGNC:11848	TLR2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11848		
HGNC:11847	TLR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11847		
NCBITaxon:63235		organism taxon	mondo				http://purl.obolibrary.org/obo/NCBITaxon_63235		
HGNC:11851	TLR5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11851		
HGNC:6764	MAD2L2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6764		
HGNC:11850	TLR4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11850		
HGNC:6769	SMAD3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6769		
HGNC:11854	TSPAN7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11854		
GO:0051240	positive regulation of multicellular organismal process	biolink:OntologyClass	mondo			up regulation of multicellular organismal process|stimulation of multicellular organismal process|up-regulation of multicellular organismal process|activation of multicellular organismal process|upregulation of multicellular organismal process	http://purl.obolibrary.org/obo/GO_0051240	Any process that activates or increases the frequency, rate or extent of an organismal process, any of the processes pertinent to the function of an organism above the cellular level; includes the integrated processes of tissues and organs.	
IAO:0000002	example to be eventually removed	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/IAO_0000002		
GO:0051241	negative regulation of multicellular organismal process	biolink:OntologyClass	mondo			downregulation of multicellular organismal process|down regulation of multicellular organismal process|inhibition of multicellular organismal process|down-regulation of multicellular organismal process	http://purl.obolibrary.org/obo/GO_0051241	Any process that stops, prevents, or reduces the frequency, rate or extent of an organismal process, the processes pertinent to the function of an organism above the cellular level; includes the integrated processes of tissues and organs.	
HGNC:6762	MAD1L1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6762		
NCBITaxon:6936	Argasidae	organism taxon	mondo	GC_ID:1		softbacked ticks|soft ticks	http://purl.obolibrary.org/obo/NCBITaxon_6936		
NCBITaxon:6935	Ixodida	organism taxon	mondo	GC_ID:1		ticks	http://purl.obolibrary.org/obo/NCBITaxon_6935		
NCBITaxon:6934	Parasitiformes	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6934		
NCBITaxon:6933	Acari	organism taxon	mondo	GC_ID:1		mites & ticks|mites and ticks|Acarina	http://purl.obolibrary.org/obo/NCBITaxon_6933		
HGNC:23801	SIPA1L3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23801		
NCBITaxon:6939	Ixodidae	organism taxon	mondo	GC_ID:1		hardbacked ticks|hard ticks|scale ticks	http://purl.obolibrary.org/obo/NCBITaxon_6939		
NCBITaxon:6937	Ornithodoros	organism taxon	mondo	GC_ID:1		Alectorobius|relapsing fever ticks	http://purl.obolibrary.org/obo/NCBITaxon_6937		
HGNC:11817	TIMM8A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11817		
HGNC:6774	SMAD9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6774		
UBERON:0008447	intertarsal joint	biolink:AnatomicalEntity	mondo			articulationes intertarsales|articulationes intertarsale|articulationes intertarseae|tarsal joints|intertarsal joint|intertarsal articulation|intertarsal|intermetatarsal joint|tarsal joint	http://purl.obolibrary.org/obo/UBERON_0008447	Intertarsal articulations are the joints of the tarsus. The specific intertarsal articulations are: Talocalcaneal articulation Talocalcaneonavicular articulation Calcaneocuboid articulation Cuneonavicular articulation Cuboideonavicular articulation Intercuneiform articulation Cuneocuboid articulation	
HGNC:6776	MAF	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6776		
HGNC:11822	TIMP3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11822		
GO:0051250	negative regulation of lymphocyte activation	biolink:OntologyClass	mondo			down-regulation of lymphocyte activation|down regulation of lymphocyte activation|inhibition of lymphocyte activation|downregulation of lymphocyte activation	http://purl.obolibrary.org/obo/GO_0051250	Any process that stops, prevents, or reduces the frequency, rate or extent of lymphocyte activation.	
GO:0051251	positive regulation of lymphocyte activation	biolink:OntologyClass	mondo			up regulation of lymphocyte activation|activation of lymphocyte activation|stimulation of lymphocyte activation|upregulation of lymphocyte activation|up-regulation of lymphocyte activation	http://purl.obolibrary.org/obo/GO_0051251	Any process that activates or increases the frequency, rate or extent of lymphocyte activation.	
HGNC:4118	GALK1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4118		
HGNC:4116	GALE	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4116		
GO:0051254	positive regulation of RNA metabolic process	biolink:OntologyClass	mondo			up-regulation of RNA metabolic process|up regulation of RNA metabolic process|activation of RNA metabolic process|positive regulation of RNA metabolism|stimulation of RNA metabolic process|upregulation of RNA metabolic process	http://purl.obolibrary.org/obo/GO_0051254	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving RNA.	
HGNC:4115	GALC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4115		
HGNC:6770	SMAD4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6770		
HGNC:4114	GAL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4114		
GO:0051252	regulation of RNA metabolic process	biolink:OntologyClass	mondo			regulation of RNA metabolism	http://purl.obolibrary.org/obo/GO_0051252	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving RNA.	
HGNC:6772	SMAD6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6772		
GO:0051253	negative regulation of RNA metabolic process	biolink:OntologyClass	mondo			inhibition of RNA metabolic process|downregulation of RNA metabolic process|negative regulation of RNA metabolism|down-regulation of RNA metabolic process|down regulation of RNA metabolic process	http://purl.obolibrary.org/obo/GO_0051253	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving RNA.	
HGNC:6773	SMAD7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6773		
NCBITaxon:6947	Prostigmata	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6947		
NCBITaxon:6946	Acariformes	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6946		
NCBITaxon:6945	Ixodes scapularis	organism taxon	mondo	GC_ID:1		black-legged tick|blacklegged tick|deer tick|Ixodes dammini|shoulder tick	http://purl.obolibrary.org/obo/NCBITaxon_6945		
NCBITaxon:6944	Ixodes	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6944		
NCBITaxon:6943	Amblyomma americanum	organism taxon	mondo	GC_ID:1		Lone Star tick|Haemalastor americanus	http://purl.obolibrary.org/obo/NCBITaxon_6943		
NCBITaxon:6942	Amblyomma	organism taxon	mondo	GC_ID:1|PMID:12386418		Aponomma	http://purl.obolibrary.org/obo/NCBITaxon_6942		
HGNC:11825	NKX2-1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11825		
HGNC:11824	TINF2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11824		
HGNC:11828	TJP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11828		
HGNC:4122	GALNS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4122		
HGNC:11834	TKT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11834		
HGNC:11831	TK2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11831		
HGNC:23805	ASXL2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23805		
UBERON:0008430	lumbar vertebral foramen	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0008430	A vertebral foramen that is part of a lumbar vertebra.	
IAO:0000027	data item	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/IAO_0000027	a data item is an information content entity that is intended to be a truthful statement about something (modulo, e.g., measurement precision or other systematic errors) and is constructed/acquired by a method which reliably tends to produce (approximately) truthful statements.	
UBERON:0008431	sacral foramen	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0008431	A vertebral foramen that is part of a sacral vertebra.	
UBERON:0008432	thoracic vertebral foramen	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0008432	A vertebral foramen that is part of a thoracic vertebra.	
HGNC:6783	MAG	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6783		
MONDO:0000630	immune system organ benign neoplasm	biolink:Disease	mondo	DOID:0060092		immune organ benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000630	A benign neoplasm that involves the immune organ.	DOID:0060092
GO:2000828	regulation of parathyroid hormone secretion	biolink:OntologyClass	mondo			regulation of parathyrin secretion|regulation of parathormone secretion|regulation of PTH secretion	http://purl.obolibrary.org/obo/GO_2000828	Any process that modulates the frequency, rate or extent of parathyroid hormone secretion.	
GO:2000829	negative regulation of parathyroid hormone secretion	biolink:OntologyClass	mondo			negative regulation of PTH secretion|negative regulation of parathyrin secretion|negative regulation of parathormone secretion	http://purl.obolibrary.org/obo/GO_2000829	Any process that stops, prevents or reduces the frequency, rate or extent of parathyroid hormone secretion.	
MONDO:0000634	thoracic benign neoplasm	biolink:Disease	mondo	SCTID:255059002|DOID:0060097|NCIT:C4565|UMLS:C0346440|ICD9:229.8		thoracic segment of trunk benign neoplasm|benign thoracic tumor|benign tumor of thorax|benign tumor of the thorax|benign thoracic neoplasm|benign neoplasm of thorax|benign neoplasm of the thorax	http://purl.obolibrary.org/obo/MONDO_0000634	A non-metastasizing neoplasm arising from any of the organs of the thoracic cavity. Representative examples include pleural adenomatoid tumor, chest wall lipoma, mediastinal schwannoma, and lung hamartoma.	DOID:0060097|NCIT:C4565|UMLS:C0346440|SNOMEDCT:255059002
MONDO:0000633	sensory organ benign neoplasm	biolink:Disease	mondo	DOID:0060096		sense organ benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000633	A benign neoplasm that involves the sense organ.	DOID:0060096
MONDO:0000632	uterine benign neoplasm	biolink:Disease	mondo	ICD9:219.9|DOID:0060095|UMLS:C0153999|SCTID:92470003|NCIT:C3609|ICD9:219.8|COHD:195500		benign uterus neoplasms|benign uterus tumors|benign uterine neoplasm|Uterous tumors, benign|benign uterine tumors|uterine tumors, benign|uterine neoplasms, benign|benign uterine tumor|benign tumor of uterus|benign tumor of the uterus|Uterous neoplasms, benign|benign uterine neoplasms|benign neoplasm of uterus|benign uterus tumor|benign neoplasm of the uterus|uterus benign neoplasm|benign uterine neoplasm NOS|benign uterus neoplasm	http://purl.obolibrary.org/obo/MONDO_0000632	A non-metastasizing neoplasm that arises from the uterine corpus or the cervix. Representative examples include leiomyoma, adenomyoma, and endocervical polyp.	DOID:0060095|SNOMEDCT:92470003|NCIT:C3609|UMLS:C0153999
MONDO:0000631	bone benign neoplasm	biolink:Disease	mondo	DOID:0060094|COHD:74606|ICD9:213.9|NCIT:C4880|SCTID:92027006		benign tumor of bone|benign tumor of the bone|benign neoplasm of bone|benign neoplasm of the bone|benign bone tumor|benign osseous tumor|benign osseous neoplasm|bone tissue benign neoplasm|benign bone neoplasm	http://purl.obolibrary.org/obo/MONDO_0000631	A neoplasm that arises from the bone or articular cartilage and does not invade adjacent tissues or metastasize to other anatomic sites.	DOID:0060094|SNOMEDCT:92027006|NCIT:C4880
MONDO:0012616	obsolete MRT8	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0012616		
MONDO:0012617	MRT9	biolink:Disease	mondo	MESH:C567014|UMLS:C1970195|OMIM:611095		mental retardation, autosomal recessive 9; MRT9|MRT9|mental retardation, autosomal recessive 9|mental retardation, autosomal recessive 26|intellectual disability, autosomal recessive 9; MRT9|intellectual disability, autosomal recessive 26|intellectual disability, autosomal recessive 9	http://purl.obolibrary.org/obo/MONDO_0012617		http://identifiers.org/omim/611095|UMLS:C1970195|MESH:C567014
MONDO:0012614	intellectual disability, autosomal recessive 6	biolink:Disease	mondo	MESH:C567017|OMIM:611092|UMLS:C1970198		mental retardation, autosomal recessive type 6|GRIK2 autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive type 6|autosomal recessive non-syndromic intellectual disability caused by mutation in GRIK2|mental retardation, autosomal recessive 6|mental retardation, autosomal recessive 6; MRT6|intellectual disability, autosomal recessive 6; MRT6|MRT6|intellectual disability, autosomal recessive 6	http://purl.obolibrary.org/obo/MONDO_0012614	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIK2 gene.	UMLS:C1970198|MESH:C567017|http://identifiers.org/omim/611092
MONDO:0012615	intellectual disability, autosomal recessive 7	biolink:Disease	mondo	UMLS:C1970197|MESH:C567016|OMIM:611093		intellectual disability, autosomal recessive 22|mental retardation, autosomal recessive type 7|intellectual disability, autosomal recessive type 7|mental retardation, autosomal recessive 7; MRT7|TUSC3 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive 7|MRT7|intellectual disability, autosomal recessive 7; MRT7|mental retardation, autosomal recessive 22|autosomal recessive non-syndromic intellectual disability caused by mutation in TUSC3|intellectual disability, autosomal recessive 7	http://purl.obolibrary.org/obo/MONDO_0012615	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TUSC3 gene.	UMLS:C1970197|MESH:C567016|http://identifiers.org/omim/611093
GO:2000823		biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000823		
GO:2000824		biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000824		
GO:2000825	positive regulation of androgen receptor activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000825	Any process that activates or increases the frequency, rate or extent of androgen receptor activity.	
MONDO:0012618	MRT10	biolink:Disease	mondo	MESH:C567013|UMLS:C1970194|OMIM:611096		mental retardation, autosomal recessive 10; MRT10|intellectual disability, autosomal recessive 20|intellectual disability, autosomal recessive 10; MRT10|intellectual disability, autosomal recessive 10|mental retardation, autosomal recessive 20|mental retardation, autosomal recessive 10|MRT10	http://purl.obolibrary.org/obo/MONDO_0012618		http://identifiers.org/omim/611096|UMLS:C1970194|MESH:C567013
MONDO:0012619	MRT11	biolink:Disease	mondo	MESH:C567012|OMIM:611097|UMLS:C1970193		mental retardation, autosomal recessive 11; MRT11|intellectual disability, autosomal recessive 11|intellectual disability, autosomal recessive 11; MRT11|MRT11|mental retardation, autosomal recessive 11	http://purl.obolibrary.org/obo/MONDO_0012619		http://identifiers.org/omim/611097|UMLS:C1970193|MESH:C567012
MONDO:0012620	HPC10	biolink:Disease	mondo	OMIM:611100|MESH:C567011|UMLS:C1970192		HPC10|prostate cancer, hereditary, 10; HPC10|prostate cancer, hereditary, 10	http://purl.obolibrary.org/obo/MONDO_0012620		UMLS:C1970192|MESH:C567011|http://identifiers.org/omim/611100
MONDO:0012623	MRT4	biolink:Disease	mondo	UMLS:C1970179|OMIM:611107|MESH:C567008		MRT4|mental retardation, autosomal recessive 4|intellectual disability, autosomal recessive 4|intellectual disability, autosomal recessive 4; MRT4|mental retardation, autosomal recessive 4; MRT4	http://purl.obolibrary.org/obo/MONDO_0012623		UMLS:C1970179|MESH:C567008|http://identifiers.org/omim/611107
MONDO:0012624	acyl-CoA dehydrogenase 9 deficiency	biolink:Disease	mondo	UMLS:C1970173|SCTID:725046003|Orphanet:99901|ICD10:E71.3|OMIM:611126|MESH:C567006	ordo_disease	acyl-CoA dehydrogenase 9 deficiency|Acad9 deficiency|mitochondrial complex I deficiency due to ACAD9 deficiency|mitochondrial Complex 1 deficiency due to Acad9 deficiency|ACAD9 deficiency	http://purl.obolibrary.org/obo/MONDO_0012624	Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.	SNOMEDCT:725046003|UMLS:C1970173|MESH:C567006|http://identifiers.org/omim/611126|ORPHA:99901
MONDO:0012621	deafness-infertility syndrome	biolink:Disease	mondo	MESH:C567010|ICD10:Q93.5|GARD:0011911|Orphanet:94064|SCTID:700489002|OMIM:611102|ICD9:758.39	gard_rare|ordo_malformation_syndrome	dis|chromosome 15Q15.3 deletion syndrome|deafness-infertility syndrome; dis|deafness, sensorineural, and Male infertility|deafness-infertility syndrome|sensorineural deafness and male infertility	http://purl.obolibrary.org/obo/MONDO_0012621	Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.	ORPHA:94064|SNOMEDCT:700489002|MESH:C567010|http://identifiers.org/omim/611102
MONDO:0012622	leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	biolink:Disease	mondo	ICD10:E75.2|GARD:0012652|SCTID:703537008|OMIM:611105|Orphanet:137898|MESH:C567009	ordo_disease	leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation|LBSL|mitochondrial aspartyl-tRNA synthetase deficiency|leukoencephalopathy with brain stem and spinal cord involvement - high lactate|leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation|leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation|leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation; LBSL|leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome	http://purl.obolibrary.org/obo/MONDO_0012622	This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.	MESH:C567009|ORPHA:137898|http://identifiers.org/omim/611105|SNOMEDCT:703537008
MONDO:0000627	benign endocrine neoplasm	biolink:Disease	mondo	ICD9:227.8|SCTID:92085000|DOID:0060089|UMLS:C0347524|ICD9:227.9|COHD:136937|NCIT:C4621		endocrine organ benign neoplasm|benign neoplasm of the endocrine gland|benign endocrine neoplasm|benign neoplasm of endocrine gland|benign endocrine gland tumor|benign tumor of the endocrine gland|benign endocrine gland neoplasm|benign tumor of endocrine gland|benign endocrine tumor|endocrine gland benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000627	A non-metastasizing, functioning or non-functioning neoplasm that arises from an endocrine organ. Representative examples include thyroid gland follicular adenoma and parathyroid gland adenoma.	DOID:0060089|SNOMEDCT:92085000|NCIT:C4621|UMLS:C0347524
GO:0051272	positive regulation of cellular component movement	biolink:OntologyClass	mondo			positive regulation of cellular component motion	http://purl.obolibrary.org/obo/GO_0051272	Any process that activates or increases the frequency, rate or extent of the movement of a cellular component.	
MONDO:0000626	vestibular gland benign neoplasm	biolink:Disease	mondo	DOID:0060088		vestibular gland benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000626	A benign neoplasm that involves the vestibular gland.	DOID:0060088
MONDO:0000625	benign male reproductive system neoplasm	biolink:Disease	mondo	UMLS:C0947786|DOID:0060087|NCIT:C4777		benign Male reproductive system tumor|male reproductive organ benign neoplasm|benign Male reproductive system neoplasm	http://purl.obolibrary.org/obo/MONDO_0000625	A non-metastasizing neoplasm that arises from the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, seminal vesicle cystadenoma, and epididymal adenomatoid tumor.	UMLS:C0947786|DOID:0060087|NCIT:C4777
GO:0051270	regulation of cellular component movement	biolink:OntologyClass	mondo			regulation of cellular component motion|regulation of cell movement	http://purl.obolibrary.org/obo/GO_0051270	Any process that modulates the frequency, rate or extent of the movement of a cellular component.	
MONDO:0000624	benign female reproductive system neoplasm	biolink:Disease	mondo	DOID:0060086|NCIT:C4934|UMLS:C0744514		benign female reproductive system neoplasm|benign gynecologic tumor|benign female reproductive system tumor|benign gynecologic neoplasm|female reproductive organ benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000624	A non-metastasizing neoplasm that arises from the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, and benign ovarian germ cell tumor.	DOID:0060086|UMLS:C0744514|NCIT:C4934
GO:0051271	negative regulation of cellular component movement	biolink:OntologyClass	mondo			negative regulation of cellular component motion	http://purl.obolibrary.org/obo/GO_0051271	Any process that stops, prevents, or reduces the frequency, rate or extent of the movement of a cellular component.	
HGNC:4138	GANAB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4138		
GO:0051276	chromosome organization	biolink:OntologyClass	mondo			nuclear genome maintenance|maintenance of genome integrity|chromosome organization and biogenesis|chromosome organisation	http://purl.obolibrary.org/obo/GO_0051276	A process that is carried out at the cellular level that results in the assembly, arrangement of constituent parts, or disassembly of chromosomes, structures composed of a very long molecule of DNA and associated proteins that carries hereditary information. This term covers covalent modifications at the molecular level as well as spatial relationships among the major components of a chromosome.	
HGNC:4137	GAN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4137		
HGNC:4136	GAMT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4136		
MONDO:0000629	cardiovascular organ benign neoplasm	biolink:Disease	mondo	DOID:0060091		cardiovascular system benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000629	A benign neoplasm that involves the cardiovascular system.	DOID:0060091
HGNC:4135	GALT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4135		
MONDO:0000628	central nervous system organ benign neoplasm	biolink:Disease	mondo	DOID:0060090		central nervous system benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000628	A benign neoplasm that involves the central nervous system.	DOID:0060090
MONDO:0000641	obsolete cerebellar medulloblastoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000641	A cerebellum cancer that begins in the lower part of the brain on the floor of the skull.	
MONDO:0000640	central nervous system primitive neuroectodermal neoplasm	biolink:Disease	mondo	DOID:0060103|NCIT:C5398|UMLS:CN201960		central nervous system primitive neuroectodermal neoplasm|CNS primitive neuroectodermal neoplasm|central nervous system neuroectodermal tumor|CNS primitive neuroectodermal tumor|central primitive neuroectodermal tumor|primitive neuroectodermal tumor of central nervous system|CNS embryonal tumor, not otherwise specified|central nervous system embryonal tumor, not otherwise specified|CNS PNET|central nervous system PNET|central nervous system primitive neuroectodermal tumor (WHO grade IV)|central nervous system embryonal tumor, NOS|central nervous system primitive neuroectodermal tumor|CNS embryonal tumor, NOS|central primitive neuroectodermal neoplasm	http://purl.obolibrary.org/obo/MONDO_0000640	A neuroectodermal tumor that involves the central nervous system.	NCIT:C5398|UMLS:CN201960|DOID:0060103
CHEBI:28659	phosphorus atom	biolink:ChemicalSubstance	mondo			Phosphor|phosphorus|Phosphorus|P|fosforo|phosphore|15P|phosphorus	http://purl.obolibrary.org/obo/CHEBI_28659		
MONDO:0000645	fallopian tube benign neoplasm	biolink:Disease	mondo	DOID:0060111|ICD10:D28.2|NCIT:C4517|MedDRA:10053865|Orphanet:180237|UMLS:C0346190|SCTID:92100009	ordo_disease	benign tumor of fallopian tube|fallopian tube neoplasm, benign|benign tumor of the fallopian tube|benign neoplasm of fallopian tube|benign neoplasm of the fallopian tube|benign fallopian tube tumor|benign fallopian tube neoplasm|fallopian tube tumor, benign|fallopian tube benign neoplasm|benign tumor of fallopian tubes	http://purl.obolibrary.org/obo/MONDO_0000645	A non-metastasizing neoplasm that arises from the fallopian tube. Representative examples include papilloma, adenofibroma, and leiomyoma.	DOID:0060111|NCIT:C4517|UMLS:C0346190|MEDDRA:10053865|SNOMEDCT:92100009|ORPHA:180237
MONDO:0000644	cervical benign neoplasm	biolink:Disease	mondo	DOID:0060110|UMLS:C0153997|SCTID:92056006|NCIT:C3607|COHD:196364		benign tumor of uterine cervix|benign tumor of the cervix uteri|benign neoplasm of cervix uteri|benign tumor of the uterine cervix|benign neoplasm of uterine cervix|benign neoplasm of the cervix uteri|benign cervix uteri tumor|benign uterine cervix neoplasm|benign uterine cervix tumor|benign neoplasm of the uterine cervix|benign cervix uteri neoplasm NOS|benign cervix uteri neoplasm|uterine cervix benign neoplasm|benign cervical neoplasm|benign tumor of cervix uteri	http://purl.obolibrary.org/obo/MONDO_0000644	A non-metastasizing neoplasm that arises from the cervix. Representative examples include squamous papilloma, endocervical polyp, and rhabdomyoma.	DOID:0060110|SNOMEDCT:92056006|NCIT:C3607|UMLS:C0153997
MONDO:0000643	vulvar benign neoplasm	biolink:Disease	mondo	UMLS:C0154003|NCIT:C3611|DOID:0060109|SCTID:92486005|COHD:438390		benign vulvar tumor|benign vulvar neoplasm|mammalian vulva benign neoplasm|benign neoplasm of the vulva|benign neoplasm of vulva|benign vulva tumor|benign tumor of the vulva|benign tumor of vulva|benign vulva neoplasm|benign vulval neoplasm|vulva benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000643	A non-metastasizing neoplasm that arises from the vulva. Representative examples include cellular angiofibroma, melanocytic nevus, nodular hidradenoma, and Bartholin gland adenoma.	DOID:0060109|UMLS:C0154003|NCIT:C3611|SNOMEDCT:92486005
MONDO:0000642	brain meningioma	biolink:Disease	mondo	DOID:0060106		brain meningioma (disease)|meningioma (disease) of brain	http://purl.obolibrary.org/obo/MONDO_0000642	A meningioma (disease) that involves the brain.	DOID:0060106
MONDO:0012605	isolated microphthalmia 5	biolink:Disease	mondo	Orphanet:251279|MESH:C567024|UMLS:C1970236|OMIM:611040|ICD10:Q15.8|DOID:0060837	ordo_disease	microphthalmia, isolated type 5|isolated microphthalmia caused by mutation in MFRP|Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome|isolated microphthalmia type 5|microphthalmia, isolated 5; MCOP5|posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen|microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome|microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic Disc drusen|MCOP5|microphthalmia, isolated 5|MFRP isolated microphthalmia	http://purl.obolibrary.org/obo/MONDO_0012605	Any isolated microphthalmia in which the cause of the disease is a mutation in the MFRP gene.	http://identifiers.org/omim/611040|ORPHA:251279|DOID:0060837|UMLS:C1970236|MESH:C567024
GO:2000830	positive regulation of parathyroid hormone secretion	biolink:OntologyClass	mondo			positive regulation of parathyrin secretion|positive regulation of parathormone secretion|positive regulation of PTH secretion	http://purl.obolibrary.org/obo/GO_2000830	Any process that activates or increases the frequency, rate or extent of parathyroid hormone secretion.	
MONDO:0012606	mycobacterium tuberculosis, susceptibility to, 2	biolink:Disease	mondo	OMIM:611046	predisposition	MTBS2|Mycobacterium tuberculosis, susceptibility to, type 2|mycobacterium tuberculosis, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0012606		http://identifiers.org/omim/611046
GO:2000831	regulation of steroid hormone secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000831	Any process that modulates the frequency, rate or extent of steroid hormone secretion.	
MONDO:0012603	episodic kinesigenic dyskinesia 2	biolink:Disease	mondo	ICD10:G24.8|MESH:C567026|OMIM:611031|DOID:0090054|UMLS:C1970238		episodic kinesigenic dyskinesia 2; EKD2|episodic kinesigenic dyskinesia type 2|dystonia 19|EKD2|episodic kinesigenic dyskinesia 2	http://purl.obolibrary.org/obo/MONDO_0012603	A dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has material basis in variation in the chromosome region 16q13-q22.1.	http://identifiers.org/omim/611031|DOID:0090054|UMLS:C1970238|MESH:C567026
GO:2000832	negative regulation of steroid hormone secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000832	Any process that stops, prevents or reduces the frequency, rate or extent of steroid hormone secretion.	
MONDO:0012604	isolated microphthalmia 3	biolink:Disease	mondo	DOID:0060842|MESH:C567025|ICD10:Q11.0|UMLS:C1970237|OMIM:611038		isolated microphthalmia caused by mutation in RAX|isolated microphthalmia caused by mutation in rax|RAX isolated microphthalmia|microphthalmia, isolated 3|rax isolated microphthalmia|MCOP3|isolated microphthalmia type 3|microphthalmia, isolated type 3|microphthalmia, isolated 3; MCOP3	http://purl.obolibrary.org/obo/MONDO_0012604	Any isolated microphthalmia in which the cause of the disease is a mutation in the RAX gene.	http://identifiers.org/omim/611038|DOID:0060842|UMLS:C1970237|MESH:C567025
HGNC:11802	TIA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11802		
GO:2000833	positive regulation of steroid hormone secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000833	Any process that activates or increases the frequency, rate or extent of steroid hormone secretion.	
MONDO:0012609	Alzheimer disease 12	biolink:Disease	mondo	OMIM:611073|ICD10:G30|MESH:C567022|UMLS:C1970209|DOID:0110045		Ad12|Alzheimer disease 12|Alzheimer disease, familial, 12|Alzheimer disease familial 12|Alzheimer's disease 12|AD12|Alzheimer's disease type 12|Alzheimer disease type 12	http://purl.obolibrary.org/obo/MONDO_0012609	An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22.	MESH:C567022|http://identifiers.org/omim/611073|DOID:0110045|UMLS:C1970209
GO:2000834	regulation of androgen secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000834	Any process that modulates the frequency, rate or extent of androgen secretion.	
NCBITaxon:2720871	Circumdati	organism taxon	mondo	GC_ID:1|PMID:28082760			http://purl.obolibrary.org/obo/NCBITaxon_2720871		
GO:2000835	negative regulation of androgen secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000835	Any process that stops, prevents or reduces the frequency, rate or extent of androgen secretion.	
MONDO:0012607	asthma-related traits, susceptibility to, 5	biolink:Disease	mondo	OMIM:611064	predisposition	asthma-related traits, susceptibility to, 5|IRAK3 inherited susceptibility to asthma|inherited susceptibility to asthma caused by mutation in IRAK3|asthma-related traits, susceptibility to, type 5|ASRT5	http://purl.obolibrary.org/obo/MONDO_0012607	Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the IRAK3 gene.	http://identifiers.org/omim/611064
GO:2000836	positive regulation of androgen secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000836	Any process that activates or increases the frequency, rate or extent of androgen secretion.	
MONDO:0012608	autosomal recessive lower motor neuron disease with childhood onset	biolink:Disease	mondo	OMIM:611067|Orphanet:206580|UMLS:C1970211|MESH:C567023|ICD10:G12.2|DOID:0111213	ordo_disease	distal spinal muscular atrophy type 4|autosomal recessive distal spinal muscular atrophy type 4|spinal muscular atrophy, distal, autosomal recessive, 4|dSMA4|spinal muscular atrophy, distal, autosomal recessive, 4; DSMA4|spinal muscular atrophy, distal, autosomal recessive, type 4|DSMA4	http://purl.obolibrary.org/obo/MONDO_0012608	Autosomal recessive lower motor neuron disease with childhood onset is a rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported.	http://identifiers.org/omim/611067|DOID:0111213|ORPHA:206580|UMLS:C1970211|MESH:C567023
MONDO:0012612	intellectual disability, autosomal recessive 12	biolink:Disease	mondo	UMLS:C1970200|OMIM:611090|MESH:C567019		intellectual disability, autosomal recessive 12|mental retardation, autosomal recessive 12|mental retardation, autosomal recessive type 12|intellectual disability, autosomal recessive 12; MRT12|mental retardation, autosomal recessive 12; MRT12|MRT12|intellectual disability, autosomal recessive type 12	http://purl.obolibrary.org/obo/MONDO_0012612		UMLS:C1970200|MESH:C567019|http://identifiers.org/omim/611090
HGNC:11812	TRIM24	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11812		
HGNC:11811	KLF11	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11811		
CHEBI:16646	carbohydrate	biolink:ChemicalSubstance	mondo			carbohidrato|glucides|hydrates de carbone|carbohidratos|carbohydrate|glucide|carbohydrates|saccharides|Kohlenhydrat|Kohlenhydrate|glucidos|glucido|saccharide|saccharidum	http://purl.obolibrary.org/obo/CHEBI_16646	Any member of the class of organooxygen compounds that is a polyhydroxy-aldehyde or -ketone or a lactol resulting from their intramolecular condensation (monosaccharides); substances derived from these by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom; and polymeric products arising by intermolecular acetal formation between two or more such molecules (disaccharides, polysaccharides and oligosaccharides). Carbohydrates contain only carbon, hydrogen and oxygen atoms; prior to any oxidation or reduction, most have the empirical formula Cm(H2O)n. Compounds obtained from carbohydrates by substitution, etc., are known as carbohydrate derivatives and may contain other elements. Cyclitols are generally not regarded as carbohydrates.	
MONDO:0012613	intellectual disability, autosomal recessive 5	biolink:Disease	mondo	OMIM:611091|UMLS:C1970199|MESH:C567018		mental retardation, autosomal recessive type 5|NSUN2 autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive type 5|autosomal recessive non-syndromic intellectual disability caused by mutation in NSUN2|mental retardation, autosomal recessive 5|mental retardation, autosomal recessive 5; MRT5|intellectual disability, autosomal recessive 5; MRT5|intellectual disability, autosomal recessive 5|MRT5	http://purl.obolibrary.org/obo/MONDO_0012613	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NSUN2 gene.	UMLS:C1970199|MESH:C567018|http://identifiers.org/omim/611091
MONDO:0012610	inflammatory bowel disease 10	biolink:Disease	mondo	DOID:0110885|UMLS:C1970207|MESH:C567021|OMIM:611081		ATG16L1 inflammatory bowel disease|inflammatory bowel disease (Crohn disease) 10|inflammatory bowel disease 10|inflammatory bowel disease type 10|IBD10|inflammatory bowel disease 10; IBD10|inflammatory bowel disease (Crohn disease) 10; IBD10|inflammatory bowel disease caused by mutation in ATG16L1	http://purl.obolibrary.org/obo/MONDO_0012610	Any inflammatory bowel disease in which the cause of the disease is a mutation in the ATG16L1 gene.	DOID:0110885|UMLS:C1970207|MESH:C567021|http://identifiers.org/omim/611081
MONDO:0012611	polyhydramnios, megalencephaly, and symptomatic epilepsy	biolink:Disease	mondo	Orphanet:500533|MESH:C567020|OMIM:611087|GARD:0012913|UMLS:C1970203	ordo_disease	polyhydramnios-megalencephaly-symptomatic epilepsy syndrome|polyhydramnios, megalencephaly, and symptomatic epilepsy|PMSE syndrome|pretzel syndrome|PMSE|polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome|polyhydramnios, megalencephaly, and symptomatic epilepsy; PMSE	http://purl.obolibrary.org/obo/MONDO_0012611		ORPHA:500533|UMLS:C1970203|MESH:C567020|http://identifiers.org/omim/611087
MONDO:0000638	benign glioma	biolink:Disease	mondo	DOID:0060101		glioma, benign	http://purl.obolibrary.org/obo/MONDO_0000638	A form of glioma without malignant characteristics.	DOID:0060101
MONDO:0000637	musculoskeletal system cancer	biolink:Disease	mondo	DOID:0060100		malignant neoplasm of musculoskeletal system|musculoskeletal system cancer|malignant musculoskeletal system neoplasm|cancer of musculoskeletal system|skeletal system cancer	http://purl.obolibrary.org/obo/MONDO_0000637	A malignant neoplasm involving the musculoskeletal system	DOID:0060100
MONDO:0000636	musculoskeletal system benign neoplasm	biolink:Disease	mondo	DOID:0060099		musculoskeletal system benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0000636	A benign neoplasm that involves the musculoskeletal system.	DOID:0060099
MONDO:0000635	obsolete osteoblastoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000635		
MONDO:0000639	cartilage cancer	biolink:Disease	mondo	DOID:0060102|GARD:0006004	gard_rare	cancer of cartilage tissue|cartilage tissue cancer|malignant cartilage tissue neoplasm|malignant neoplasm of cartilage tissue|cartilaginous cancer	http://purl.obolibrary.org/obo/MONDO_0000639	A cancer involving a cartilage tissue.	DOID:0060102
GO:2000849	regulation of glucocorticoid secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000849	Any process that modulates the frequency, rate or extent of glucocorticoid secretion.	
MONDO:0000612	lymphatic system cancer	biolink:Disease	mondo	DOID:0060073		malignant neoplasm of lymphatic part of lymphoid system|lymphatic part of lymphoid system cancer|malignant lymphatic part of lymphoid system neoplasm|cancer of lymphatic part of lymphoid system	http://purl.obolibrary.org/obo/MONDO_0000612	A malignant neoplasm involving the lymphatic part of lymphoid system	DOID:0060073
MONDO:0000611	pre-malignant neoplasm	biolink:Disease	mondo	DOID:0060071			http://purl.obolibrary.org/obo/MONDO_0000611	A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer.	DOID:0060071
MONDO:0000610	marantic endocarditis	biolink:Disease	mondo	DOID:0060068|MESH:D059905|SCTID:57181007		nonbacterial thrombotic endocarditis|non-bacterial thrombotic endocarditis	http://purl.obolibrary.org/obo/MONDO_0000610	Formation of a non-infectious thrombus, referred to as vegetation, on previously undamaged endocardium. It usually occurs as a complication of connective-tissue diseases and cancers because of the associated hypercoagulable state (see thrombophilia).	DOID:0060068|SNOMEDCT:57181007|MESH:D059905
GO:2000843	regulation of testosterone secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000843	Any process that modulates the frequency, rate or extent of testosterone secretion.	
GO:2000844	negative regulation of testosterone secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000844	Any process that stops, prevents or reduces the frequency, rate or extent of testosterone secretion.	
GO:2000845	positive regulation of testosterone secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000845	Any process that activates or increases the frequency, rate or extent of testosterone secretion.	
GO:2000846	regulation of corticosteroid hormone secretion	biolink:OntologyClass	mondo			regulation of corticosteroid secretion	http://purl.obolibrary.org/obo/GO_2000846	Any process that modulates the frequency, rate or extent of corticosteroid hormone secretion.	
GO:2000847	negative regulation of corticosteroid hormone secretion	biolink:OntologyClass	mondo			negative regulation of corticosteroid secretion	http://purl.obolibrary.org/obo/GO_2000847	Any process that stops, prevents or reduces the frequency, rate or extent of corticosteroid hormone secretion.	
GO:2000848	positive regulation of corticosteroid hormone secretion	biolink:OntologyClass	mondo			positive regulation of corticosteroid secretion	http://purl.obolibrary.org/obo/GO_2000848	Any process that activates or increases the frequency, rate or extent of corticosteroid hormone secretion.	
MONDO:0012601	AUTS10	biolink:Disease	mondo	OMIM:611016	predisposition	AUTS10|autism, susceptibility to, 10|autism, susceptibility to, 10; AUTS10	http://purl.obolibrary.org/obo/MONDO_0012601		http://identifiers.org/omim/611016
MONDO:0012602	autosomal recessive nonsyndromic deafness 24	biolink:Disease	mondo	MESH:C567027|ICD10:H90.3|OMIM:611022|DOID:0110482|UMLS:C1970239		DFNB24|RDX autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 24|autosomal recessive deafness 24|deafness, autosomal recessive type 24|deafness, autosomal recessive 24; DFNB24|autosomal recessive nonsyndromic deafness caused by mutation in RDX|deafness, autosomal recessive 24	http://purl.obolibrary.org/obo/MONDO_0012602	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RDX gene.	DOID:0110482|UMLS:C1970239|MESH:C567027|http://identifiers.org/omim/611022
MONDO:0012600	AUTS9	biolink:Disease	mondo	OMIM:611015	predisposition	autism, susceptibility to, 9|autism, susceptibility to, 9; AUTS9|AUTS9	http://purl.obolibrary.org/obo/MONDO_0012600		http://identifiers.org/omim/611015
MONDO:0000605	hypersensitivity reaction disease	biolink:Disease	mondo	NCIT:C3114|SCTID:473010000|EFO:1002003|DOID:0060056		sensitive|hypersensitive|hypersensitivity reaction|allergic reaction|sensitivity|hypersensitivity	http://purl.obolibrary.org/obo/MONDO_0000605	An immune system disease that has basis in dysregulation of the hypersensitivity reaction, an inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system.	DOID:0060056|SNOMEDCT:473010000|NCIT:C3114
MONDO:0000604	obsolete autonomic peripheral neuropathy	biolink:Disease	mondo			autonomic nervous system peripheral neuropathy	http://purl.obolibrary.org/obo/MONDO_0000604		
MONDO:0000603	autoimmune disease of cardiovascular system	biolink:Disease	mondo	DOID:0060051		cardiovascular system hypersensitivity reaction type II disease|cardiovascular system autoimmune disease	http://purl.obolibrary.org/obo/MONDO_0000603	A hypersensitivity reaction type II disease that involves the cardiovascular system.	DOID:0060051
MONDO:0000602	autoimmune disease of blood	biolink:Disease	mondo	DOID:0060050		blood autoimmune disease|blood hypersensitivity reaction type II disease	http://purl.obolibrary.org/obo/MONDO_0000602	A hypersensitivity reaction type II disease that involves the blood.	DOID:0060050
CHEBI:16670	peptide	biolink:ChemicalSubstance	mondo			peptido|peptidos|peptides|Peptide|Peptid	http://purl.obolibrary.org/obo/CHEBI_16670	Amide derived from two or more amino carboxylic acid molecules (the same or different) by formation of a covalent bond from the carbonyl carbon of one to the nitrogen atom of another with formal loss of water. The term is usually applied to structures formed from alpha-amino acids, but it includes those derived from any amino carboxylic acid. X = OH, OR, NH2, NHR, etc.	
CHEBI:41609	carbonate	biolink:ChemicalSubstance	mondo			Karbonat|[CO3](2-)|trioxidocarbonate(2-)|CO3(2-)|CARBONATE ION|carbonate	http://purl.obolibrary.org/obo/CHEBI_41609		
MONDO:0000609	obsolete sideroblastic anemia with spinocerebellar ataxia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000609		
MONDO:0000608	familial juvenile hyperuricemic nephropathy	biolink:Disease	mondo	UMLS:CN239392|OMIMPS:162000|GARD:0000067|SCTID:46785007|MESH:C537696|DOID:0060062	gard_rare	juvenile gout|FJHN|familial juvenile hyperuricemic nephropathy|nephropathy, familial, with gout|familial nephropathy associated with hyperuricemia|gouty nephropathy, familial juvenile|familial juvenile gouty nephropathy|juvenile gouty nephropathy|gouty nephropathy, familial|familial nephropathy with gout	http://purl.obolibrary.org/obo/MONDO_0000608		UMLS:CN239392|MESH:C537696|SNOMEDCT:46785007|DOID:0060062
MONDO:0000607	primary cutaneous T-cell non-Hodgkin lymphoma	biolink:Disease	mondo	NCIT:C3467|MESH:D016410|EFO:0002913|DOID:0060061|ICDO:9709/3		skin T-cell non-Hodgkin's lymphoma|PCTCL|CTCL|primary cutaneous T-cell non-Hodgkin's lymphoma|cutaneous T-cell non-Hodgkin's lymphoma|cutaneous T-cell lymphoma|T-cell non-Hodgkin's lymphoma of skin|cutaneous T cell lymphoma|primary cutaneous T-cell non-Hodgkin lymphoma|T-cell non-Hodgkin's lymphoma of the skin|cutaneous T-cell non-Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0000607	A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma.	NCIT:C3467|DOID:0060061|MESH:D016410
MONDO:0000606	gluten allergy	biolink:Disease	mondo	DOID:0060057		gluten allergic disease|allergy of gluten|gluten allergic reaction|allergy to gluten	http://purl.obolibrary.org/obo/MONDO_0000606	A allergy involving gluten.	DOID:0060057
MONDO:0000623	obsolete organ system benign neoplasm	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000623		
MONDO:0000622	obsolete cell type benign neoplasm	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000622		
MONDO:0000621	immune system cancer	biolink:Disease	mondo	DOID:0060083		cancer of immune system|immune system cancer|malignant immune system neoplasm|malignant neoplasm of immune system	http://purl.obolibrary.org/obo/MONDO_0000621	A malignant neoplasm involving the immune system	DOID:0060083
MONDO:0000620	breast benign neoplasm	biolink:Disease	mondo	ICD9:217|NCIT:C4505|DOID:0060082|SCTID:269485000|COHD:72576		benign tumor of breast|benign tumor of the breast|benign neoplasm of breast|benign neoplasm of the breast|benign breast tumor|breast benign neoplasm|benign breast neoplasm	http://purl.obolibrary.org/obo/MONDO_0000620	A non-metastasizing neoplasm arising from the breast parenchyma.	DOID:0060082|SNOMEDCT:269485000|NCIT:C4505
GO:2000855	regulation of mineralocorticoid secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000855	Any process that modulates the frequency, rate or extent of mineralocorticoid secretion.	
GO:2000856	negative regulation of mineralocorticoid secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000856	Any process that stops, prevents or reduces the frequency, rate or extent of mineralocorticoid secretion.	
GO:2000857	positive regulation of mineralocorticoid secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000857	Any process that activates or increases the frequency, rate or extent of mineralocorticoid secretion.	
GO:2000858	regulation of aldosterone secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000858	Any process that modulates the frequency, rate or extent of aldosterone secretion.	
GO:2000859	negative regulation of aldosterone secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000859	Any process that stops, prevents or reduces the frequency, rate or extent of aldosterone secretion.	
HGNC:4166	GAS8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4166		
HGNC:4162	GARS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4162		
GO:2000850	negative regulation of glucocorticoid secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000850	Any process that stops, prevents or reduces the frequency, rate or extent of glucocorticoid secretion.	
GO:2000851	positive regulation of glucocorticoid secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000851	Any process that activates or increases the frequency, rate or extent of glucocorticoid secretion.	
MONDO:0000616	progesterone-receptor negative breast cancer	biolink:Disease	mondo	DOID:0060078			http://purl.obolibrary.org/obo/MONDO_0000616		DOID:0060078
MONDO:0000615	progesterone-receptor positive breast cancer	biolink:Disease	mondo	DOID:0060077			http://purl.obolibrary.org/obo/MONDO_0000615		DOID:0060077
MONDO:0000614	obsolete estrogen-receptor negative breast cancer	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000614		
MONDO:0000613	obsolete estrogen-receptor positive breast cancer	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000613		
MONDO:0000619	obsolete triple-receptor negative breast cancer	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000619		
NCBITaxon:2	Bacteria	organism taxon	mondo	PMID:10425795|PMID:8123559|PMID:11411719|GC_ID:11|PMID:11540071|PMID:11321083|PMID:9336922|PMID:9103655|PMID:11760965|PMID:10939677|PMID:8186100|PMID:8590690|PMID:12054223|PMID:7520741|PMID:10843050|PMID:2112744|PMID:11542017|PMID:11211268|PMID:10939673|PMID:10939651|PMID:11321113|PMID:10490293|PMID:10425797|PMID:10425796|PMID:11542087|PMID:270744		Prokaryotae|Prokaryota|prokaryotes|bacteria|Procaryotae|eubacteria|Monera|prokaryote|not Bacteria Haeckel 1894	http://purl.obolibrary.org/obo/NCBITaxon_2		
MONDO:0000618	Her2-receptor negative breast cancer	biolink:Disease	mondo	DOID:0060080			http://purl.obolibrary.org/obo/MONDO_0000618		DOID:0060080
MONDO:0000617	obsolete Her2-receptor positive breast cancer	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000617		
NCBITaxon:1	root	organism taxon	mondo	GC_ID:1		all	http://purl.obolibrary.org/obo/NCBITaxon_1		
GO:0002225	positive regulation of antimicrobial peptide production	biolink:OntologyClass	mondo			up-regulation of antimicrobial peptide production|activation of antimicrobial peptide production|antimicrobial peptide induction|upregulation of antimicrobial peptide production|up regulation of antimicrobial peptide production|stimulation of antimicrobial peptide production	http://purl.obolibrary.org/obo/GO_0002225	Any process that activates or increases the frequency, rate, or extent of antimicrobial peptide production.	
GO:0004888	transmembrane signaling receptor activity	biolink:OntologyClass	mondo			transmembrane signalling receptor activity|transmembrane receptor activity	http://purl.obolibrary.org/obo/GO_0004888	Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction.	
GO:0004887		biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0004887		
GO:0002228	natural killer cell mediated immunity	biolink:OntologyClass	mondo			NK cell mediated immunity	http://purl.obolibrary.org/obo/GO_0002228	The promotion of an immune response by natural killer cells through direct recognition of target cells or through the release of cytokines.	
GO:0004882		biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0004882		
GO:0016866	intramolecular transferase activity	biolink:OntologyClass	mondo			mutase activity|intramolecular transferase activity, transferring other groups	http://purl.obolibrary.org/obo/GO_0016866	Catalysis of the transfer of a functional group from one position to another within a single molecule.	
GO:0016868	intramolecular transferase activity, phosphotransferases	biolink:OntologyClass	mondo			phosphotransferase activity, with regeneration of donors, apparently catalyzing intramolecular transfers|phosphomutase activity	http://purl.obolibrary.org/obo/GO_0016868	Catalysis of the transfer of a phosphate group from one position to another within a single molecule.	
GO:0016860	intramolecular oxidoreductase activity	biolink:OntologyClass	mondo			intramolecular isomerase activity|intramolecular oxidoreductase activity, other intramolecular oxidoreductases	http://purl.obolibrary.org/obo/GO_0016860	Catalysis of an oxidation-reduction (redox) reaction in which the hydrogen donor and acceptor are the same molecule, and no oxidized product appears.	
GO:0016861	intramolecular oxidoreductase activity, interconverting aldoses and ketoses	biolink:OntologyClass	mondo			intramolecular isomerase activity, interconverting aldoses and ketoses	http://purl.obolibrary.org/obo/GO_0016861	Catalysis of an oxidation-reduction (redox) reaction in which the hydrogen donor and acceptor, which is an aldose or a ketose, are the same molecule, and no oxidized product appears.	
GO:0002232	leukocyte chemotaxis involved in inflammatory response	biolink:OntologyClass	mondo			leukocyte chemotaxis during inflammatory response|immune cell chemotaxis during inflammatory response|leucocyte chemotaxis during inflammatory response	http://purl.obolibrary.org/obo/GO_0002232	The movement of an immune cell in response to an external stimulus contributing to an inflammatory response.	
GO:0002233	leukocyte chemotaxis involved in immune response	biolink:OntologyClass	mondo			immune cell chemotaxis during immune response|leucocyte chemotaxis during immune response	http://purl.obolibrary.org/obo/GO_0002233	The movement of an immune cell in response to an external stimulus a part of an immune response.	
GO:0004896	cytokine receptor activity	biolink:OntologyClass	mondo			IL receptor|interleukin receptor activity|hematopoietin/interferon-class (D200-domain) cytokine receptor activity	http://purl.obolibrary.org/obo/GO_0004896	Combining with a cytokine and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity.	
GO:0016879	ligase activity, forming carbon-nitrogen bonds	biolink:OntologyClass	mondo			other carbon-nitrogen ligase activity	http://purl.obolibrary.org/obo/GO_0016879	Catalysis of the joining of two molecules, or two groups within a single molecule, via a carbon-nitrogen bond, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate.	
GO:0016874	ligase activity	biolink:OntologyClass	mondo			synthetase activity	http://purl.obolibrary.org/obo/GO_0016874	Catalysis of the joining of two molecules, or two groups within a single molecule, using the energy from the hydrolysis of ATP, a similar triphosphate, or a pH gradient.	
ENVO:01001305	vegetated area	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001305	A vegetated area is a geographic feature which has ground cover dominated by plant communities.	
GO:0002204	somatic recombination of immunoglobulin genes involved in immune response	biolink:OntologyClass	mondo			somatic recombination of immunoglobulin genes during immune response|somatic recombination of antibody genes during immune response	http://purl.obolibrary.org/obo/GO_0002204	The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, also known as immunoglobulin gene segments, within a single locus following the induction of and contributing to an immune response.	
ENVO:01001307	partially_surrounded_by	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001307	x partially_surrounded_by y if and only if (1) x is adjacent to y and for the region r that is adjacent to x, r partially overlaps y (2) the shared boundary between x and y occupies  a non-trivial proportion of the outermost boundary of x	
GO:0002200	somatic diversification of immune receptors	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002200	The somatic process allowing for the production of immune receptors whose specificity is not encoded in the germline genomic sequences.	
ENVO:01001309	liquid air-water interface layer	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001309	A liquid surface layer which is in contact with air.	
ENVO:01001308	hydroform	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001308	A geographic feature which is primarily composed of a continuous volume of liquid water held in shape or sustained by an environmental process.	
GO:0016840	carbon-nitrogen lyase activity	biolink:OntologyClass	mondo			other carbon-nitrogen lyase activity	http://purl.obolibrary.org/obo/GO_0016840	Catalysis of the release of ammonia or one of its derivatives, with the formation of a double bond or ring. Enzymes with this activity may catalyze the actual elimination of the ammonia, amine or amide, e.g. CH-CH(-NH-R) = C=CH- + NH2-R. Others, however, catalyze elimination of another component, e.g. water, which is followed by spontaneous reactions that lead to breakage of the C-N bond, e.g. L-serine ammonia-lyase (EC:4.3.1.17), so that the overall reaction is C(-OH)-CH(-NH2) = CH2-CO- + NH3, i.e. an elimination with rearrangement. The sub-subclasses of EC:4.3 are the ammonia-lyases (EC:4.3.1), lyases acting on amides, amidines, etc. (EC:4.3.2), the amine-lyases (EC:4.3.3), and other carbon-nitrogen lyases (EC:4.3.99).	
GO:0016842	amidine-lyase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016842	Catalysis of the release of amides or amidines by the cleavage of a carbon-nitrogen bond or the reverse reaction with an amide or amidine as a substrate.	
GO:0002208	somatic diversification of immunoglobulins involved in immune response	biolink:OntologyClass	mondo			somatic diversification of antibodies during immune response|somatic diversification of immunoglobulins during immune response	http://purl.obolibrary.org/obo/GO_0002208	The somatic process that results in the generation of sequence diversity of immunoglobulins after induction, and contributes to an immune response.	
GO:0004879	nuclear receptor activity	biolink:OntologyClass	mondo			ligand-dependent transcription factor activity|calcitriol receptor activity|vitamin A receptor activity|9-cis retinoic acid receptor activity|estrogen nuclear receptor activity|juvenile hormone receptor activity|thyroid hormone receptor activity|nuclear hormone receptor|retinoid-X receptor activity|RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding|vitamin D3 receptor activity|ecdysteroid hormone receptor activity|androgen receptor activity|nuclear receptor activity|ligand-dependent nuclear receptor activity|retinoic acid receptor activity|1,25-(OH)2D3 receptor activity|RXR|RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding|RNA polymerase II transcription factor activity, glucocorticoid-activated sequence-specific DNA binding|vitamin D receptor activity|glucocorticoid receptor activity|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity	http://purl.obolibrary.org/obo/GO_0004879	A DNA-binding transcription factor activity regulated by binding to a ligand that modulates the transcription of specific gene sets transcribed by RNA polymerase II. Nuclear receptor ligands are usually lipid-based (such as a steroid hormone) and the binding of the ligand to its receptor often occurs in the cytoplasm, which leads to its tranlocation to the nucleus.	
GO:0004872		biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0004872		
GO:0004875	complement receptor activity	biolink:OntologyClass	mondo			anaphylatoxin receptor activity	http://purl.obolibrary.org/obo/GO_0004875	Combining with any component or product of the complement cascade and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity.	
CL:0011115	precursor cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0011115	A cell that, by division or terminal differentiation, can give rise to other cell types.	
GO:0004871	obsolete signal transducer activity	biolink:OntologyClass	mondo			hematopoietin/interferon-class (D200-domain) cytokine receptor signal transducer activity|quorum sensing signal generator activity|quorum sensing response regulator activity	http://purl.obolibrary.org/obo/GO_0004871	OBSOLETE. Conveys a signal across a cell to trigger a change in cell function or state. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response.	
HGNC:6700	LRP8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6700		
HGNC:6701	LRPAP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6701		
GO:0016853	isomerase activity	biolink:OntologyClass	mondo			other isomerase activity	http://purl.obolibrary.org/obo/GO_0016853	Catalysis of the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5.	
GO:0016854	racemase and epimerase activity	biolink:OntologyClass	mondo			racemase and epimerase activity, acting on other compounds	http://purl.obolibrary.org/obo/GO_0016854	Catalysis of a reaction that alters the configuration of one or more chiral centers in a molecule.	
HGNC:6708	LSS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6708		
GO:0016826	hydrolase activity, acting on acid sulfur-nitrogen bonds	biolink:OntologyClass	mondo			hydrolase activity, acting on acid sulphur-nitrogen bonds	http://purl.obolibrary.org/obo/GO_0016826	Catalysis of the hydrolysis of any acid sulfur-nitrogen bond.	
HGNC:6709	LTA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6709		
GO:0016829	lyase activity	biolink:OntologyClass	mondo			other lyase activity	http://purl.obolibrary.org/obo/GO_0016829	Catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring.	
MONDO:0034099	SYNGAP1-related developmental and epileptic encephalopathy	biolink:Disease	mondo	Orphanet:544254	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0034099		ORPHA:544254
GO:0016825	hydrolase activity, acting on acid phosphorus-nitrogen bonds	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016825	Catalysis of the hydrolysis of any acid phosphorus-nitrogen bond.	
MONDO:0034092	optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	biolink:Disease	mondo	Orphanet:543470	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0034092		ORPHA:543470
HGNC:6715	LTBP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6715		
NCBITaxon:51291	Chlamydiales	organism taxon	mondo	PMID:16079343|PMID:10319462|PMID:26179278|PMID:11211265|PMID:25634949|GC_ID:11|PMID:10826799		chlamydias	http://purl.obolibrary.org/obo/NCBITaxon_51291		
HGNC:6716	LTBP3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6716		
HGNC:6717	LTBP4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6717		
HGNC:6719	LTC4S	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6719		
GO:0016835	carbon-oxygen lyase activity	biolink:OntologyClass	mondo			other carbon-oxygen lyase activity	http://purl.obolibrary.org/obo/GO_0016835	Catalysis of the breakage of a carbon-oxygen bond.	
GO:0016836	hydro-lyase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016836	Catalysis of the cleavage of a carbon-oxygen bond by elimination of water.	
GO:0016830	carbon-carbon lyase activity	biolink:OntologyClass	mondo			other carbon-carbon lyase activity	http://purl.obolibrary.org/obo/GO_0016830	Catalysis of the cleavage of C-C bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond.	
GO:0016831	carboxy-lyase activity	biolink:OntologyClass	mondo			decarboxylase activity	http://purl.obolibrary.org/obo/GO_0016831	Catalysis of the nonhydrolytic addition or removal of a carboxyl group to or from a compound.	
GO:0016832	aldehyde-lyase activity	biolink:OntologyClass	mondo			aldolase activity	http://purl.obolibrary.org/obo/GO_0016832	Catalysis of the cleavage of a C-C bond in a molecule containing a hydroxyl group and a carbonyl group to form two smaller molecules, each being an aldehyde or a ketone.	
GO:0051216	cartilage development	biolink:OntologyClass	mondo			chondrogenesis|cartilage organ development|cartilage biogenesis|cartilage element development|cartilage biosynthesis|cartilage formation	http://purl.obolibrary.org/obo/GO_0051216	The process whose specific outcome is the progression of a cartilage element over time, from its formation to the mature structure. Cartilage elements are skeletal elements that consist of connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate.	
UBERON:0008522	nasal muscle	biolink:AnatomicalEntity	mondo			muscle of nose	http://purl.obolibrary.org/obo/UBERON_0008522	Any muscle organ that is part of an nose.	
GO:0051223	regulation of protein transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0051223	Any process that modulates the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
GO:0051224	negative regulation of protein transport	biolink:OntologyClass	mondo			inhibition of protein transport|downregulation of protein transport|down-regulation of protein transport|down regulation of protein transport	http://purl.obolibrary.org/obo/GO_0051224	Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
HGNC:6741	LZTFL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6741		
GO:0016811	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016811	Catalysis of the hydrolysis of any non-peptide carbon-nitrogen bond in a linear amide.	
HGNC:6742	LZTR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6742		
GO:0016812	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016812	Catalysis of the hydrolysis of any non-peptide carbon-nitrogen bond in a cyclic amide.	
GO:0016814	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016814	Catalysis of the hydrolysis of any non-peptide carbon-nitrogen bond in a cyclic amidine, a compound of the form R-C(=NH)-NH2.	
GO:0016810	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds	biolink:OntologyClass	mondo			hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in other compounds	http://purl.obolibrary.org/obo/GO_0016810	Catalysis of the hydrolysis of any carbon-nitrogen bond, C-N, with the exception of peptide bonds.	
GO:0051222	positive regulation of protein transport	biolink:OntologyClass	mondo			up-regulation of protein transport|up regulation of protein transport|activation of protein transport|stimulation of protein transport|upregulation of protein transport	http://purl.obolibrary.org/obo/GO_0051222	Any process that activates or increases the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
HGNC:6740	LYZ	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6740		
MONDO:0022067	Cantu sanchez-corona fragoso syndrome	biolink:Disease	mondo	MESH:C535571|UMLS:C2930937|GARD:0001081	gard_rare	severe mental deficiency, proportionate dwarfism, and delayed sexual maturation|severe mental deficiency proportionate dwarfism and delayed sexual maturation	http://purl.obolibrary.org/obo/MONDO_0022067		UMLS:C2930937|MESH:C535571
HP:0011376	Morphological abnormality of the vestibule of the inner ear	biolink:PhenotypicFeature	mondo	UMLS:C0542259		Vestibular abnormality	http://purl.obolibrary.org/obo/HP_0011376	A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals.	
ENVO:01001367	primary aerosol formation process	biolink:OntologyClass	mondo			primary aerosol formation	http://purl.obolibrary.org/obo/ENVO_01001367	A material transport process during which solid or liquid particles are directly introduced into a volume of gas.	
ENVO:01001366	aerosolised particle formation process	biolink:OntologyClass	mondo			new particle formation process	http://purl.obolibrary.org/obo/ENVO_01001366	A process during which particles suspended in a gaseous medium are formed.	
MONDO:0022060	calloso-genital dysplasia	biolink:Disease	mondo	UMLS:C2931677|MESH:C537962|GARD:0001055	gard_rare	primary amenorrhoea with coloboma and total agenesis of the corpus callosum	http://purl.obolibrary.org/obo/MONDO_0022060		UMLS:C2931677|MESH:C537962
MONDO:0009089	deafness-oligodontia syndrome	biolink:Disease	mondo	MESH:C538049|GARD:0001698|UMLS:C1857333|Orphanet:3230|OMIM:221740	ordo_malformation_syndrome|gard_rare	deafness oligodontia syndrome|deafness-oligodontia syndrome|autosomal recessive sensorineural hearing impairment, dizziness, and hypodontia|congenital profound sensorineural deafness and oligodontia	http://purl.obolibrary.org/obo/MONDO_0009089	Deafness-oligodontia syndrome is characterised by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive.	UMLS:C1857333|http://identifiers.org/omim/221740|ORPHA:3230|MESH:C538049
MONDO:0010088	mucosulfatidosis	biolink:Disease	mondo	Orphanet:585|OMIM:272200|NCIT:C84908|UMLS:C0268263|SCTID:54898003|MESH:D052517|ICD10:E75.2|GARD:0005061|DOID:0050441	ordo_disease	sulfatidosis juvenile, Austin type|mucosulfatidosis|juvenile sulfatidosis, Austin type|multiple sulfatase deficiency; MSD|sulfatidosis, juvenile, Austin type|multiple sulfatase deficiency disease|multiple sulfatase deficiency|juvenile sulfatidosis|MSD	http://purl.obolibrary.org/obo/MONDO_0010088	Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.	MESH:D052517|UMLS:C1720864|SNOMEDCT:54898003|UMLS:C0268263|NCIT:C84908|DOID:0050441|ORPHA:585|http://identifiers.org/omim/272200
MONDO:0009088	deafness, neural, with atypical atopic dermatitis	biolink:Disease	mondo	UMLS:C1857334|MESH:C565639|OMIM:221700		deafness, neural, with atypical atopic dermatitis	http://purl.obolibrary.org/obo/MONDO_0009088		MESH:C565639|UMLS:C1857334|http://identifiers.org/omim/221700
NCBITaxon:28901	Salmonella enterica	organism taxon	mondo	PMID:10319519|PMID:15653929|GC_ID:11|PMID:10939679|PMID:15653930		Salmonella cholerae-suis|Bacillus cholerae-suis|Salmonella enterica ser. choleraesuis|Salmonella choleraesuis	http://purl.obolibrary.org/obo/NCBITaxon_28901		
MONDO:0010087	Sugarman brachydactyly	biolink:Disease	mondo	GARD:0005058|OMIM:272150|Orphanet:498602|DOID:0110979	gard_rare|ordo_morphological_anomaly	brachydactyly with Major proximal phalangeal shortening|Sugarman brachydactyly|brachydactyly of the hands and feet with duplication of the first toes|Sugarman-Hager-Kulik syndrome|brachydactyly with major proximal phalangeal shortening	http://purl.obolibrary.org/obo/MONDO_0010087	Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982.	DOID:0110979|ORPHA:498602|http://identifiers.org/omim/272150
MONDO:0009087	deafness, neural, congenital moderate	biolink:Disease	mondo	UMLS:C1857337|MESH:C565640|OMIM:221500		deafness, neural, congenital moderate	http://purl.obolibrary.org/obo/MONDO_0009087		MESH:C565640|http://identifiers.org/omim/221500|UMLS:C1857337
MONDO:0034054	severe combined immunodeficiency due to CD70 deficiency	biolink:Disease	mondo	Orphanet:538958|OMIM:618261	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0034054		http://identifiers.org/omim/618261|ORPHA:538958
MONDO:0009086	deafness-small bowel diverticulosis-neuropathy syndrome	biolink:Disease	mondo	MESH:C537305|GARD:0002568|OMIM:221400|Orphanet:3217|SCTID:733071009|UMLS:C1857338	ordo_disease	deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy|Groll-Hirschowitz syndrome|nerve type deafness with mesenteric diverticula of small bowel and progressive sensory neuropathy|Groll Hirschowitz syndrome	http://purl.obolibrary.org/obo/MONDO_0009086	Deafness-small bowel diverticulosis-neuropathy syndrome is characterised by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis).	ORPHA:3217|http://identifiers.org/omim/221400|SNOMEDCT:733071009|UMLS:C1857338|MESH:C537305
MONDO:0010089	isolated sulfite oxidase deficiency	biolink:Disease	mondo	OMIM:272300|ICD10:E72.1|SCTID:367368009|MESH:C538141|GARD:0005062|DOID:0111270|Orphanet:99731	ordo_clinical_subtype	ISOD|sulfocysteinuria|Sulfocysteinuria|sulfite oxidase deficiency, isolated; ISOD|sulfite oxidase deficiency|sulfite oxidase deficiency, isolated	http://purl.obolibrary.org/obo/MONDO_0010089		SNOMEDCT:367368009|MESH:C538141|ORPHA:99731|DOID:0111270|http://identifiers.org/omim/272300
MONDO:0009085	deafness-vitiligo-achalasia syndrome	biolink:Disease	mondo	MESH:C565642|OMIM:221350|UMLS:C1857339|ICD10:Q87.8|Orphanet:3239|GARD:0001705	ordo_malformation_syndrome|gard_rare	deafness vitiligo achalasia|deafness, congenital, with vitiligo and achalasia|congenital deafness with vitiligo and achalasia	http://purl.obolibrary.org/obo/MONDO_0009085	Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia.	MESH:C565642|ORPHA:3239|http://identifiers.org/omim/221350|UMLS:C1857339
MONDO:0009084	conductive deafness-ptosis-skeletal anomalies syndrome	biolink:Disease	mondo	SCTID:763213001|GARD:0000305|UMLS:C1857340|OMIM:221320|Orphanet:3236|MESH:C535993	ordo_malformation_syndrome	Jackson Barr syndrome|Jackson-Barr syndrome|deafness, conductive, with ptosis and skeletal anomalies|deafness conductive ptosis skeletal anomalies	http://purl.obolibrary.org/obo/MONDO_0009084	Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978.	SNOMEDCT:763213001|MESH:C535993|ORPHA:3236|http://identifiers.org/omim/221320|UMLS:C1857340
MONDO:0009083	conductive deafness-malformed external ear syndrome	biolink:Disease	mondo	UMLS:C1857341|OMIM:221300|Orphanet:3216|GARD:0001460|MESH:C565644	ordo_malformation_syndrome	Mengel-Konigsmark syndrome|Ear deformity and conductive hearing loss|conductive deafness - malformed external ear|familial congenital moderate neural hearing loss|deafness, conductive, with malformed external EAR|conductive deafness with malformed external ear|conductive hearing loss and malformed low-set ears|conductive hearing loss-malformed external ear syndrome	http://purl.obolibrary.org/obo/MONDO_0009083		MESH:C565644|ORPHA:3216|http://identifiers.org/omim/221300|UMLS:C1857341
MONDO:0009082	high myopia-sensorineural deafness syndrome	biolink:Disease	mondo	UMLS:CN204687|GARD:0012844|SCTID:720506002|ICD10:H90.5|OMIM:221200|Orphanet:363396|DOID:0111628	ordo_disease	deafness and myopia|deafness and myopia syndrome|DFNMYP|deafness and myopia; DFNMYP	http://purl.obolibrary.org/obo/MONDO_0009082	High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations.	DOID:0111628|SNOMEDCT:720506002|UMLS:CN204687|http://identifiers.org/omim/221200|ORPHA:363396
MONDO:0009081	deafness, congenital, with total albinism	biolink:Disease	mondo	OMIM:220900|UMLS:C1857343|MESH:C565646		deafness, congenital, with total albinism	http://purl.obolibrary.org/obo/MONDO_0009081		MESH:C565646|UMLS:C1857343|http://identifiers.org/omim/220900
MONDO:0009080	split hand-foot malformation 1 with sensorineural hearing loss	biolink:Disease	mondo	Orphanet:71271|UMLS:C1857344|SCTID:723611008|MESH:C565647|DOID:0090024|ICD10:Q87.2|OMIM:220600	ordo_malformation_syndrome	split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive|deafness, congenital, with split hands and feet|congenital deafness with split hands and feet|split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive; SHFM1D|split hand-split foot-deafness syndrome|SHFM1D	http://purl.obolibrary.org/obo/MONDO_0009080	Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.	ORPHA:71271|DOID:0090024|MESH:C565647|UMLS:C1857344|http://identifiers.org/omim/220600|SNOMEDCT:723611008
MONDO:0010080	familial infantile bilateral striatal necrosis	biolink:Disease	mondo	Orphanet:225154|ICD10:G23.2|UMLS:CN201303|OMIM:271930|GARD:0010665	gard_rare|ordo_clinical_subtype	familial infantile striatonigral necrosis|infantile bilateral striatal necrosis|bilateral striatal Necrosis, infantile|FBSN|SNDI|striatonigral degeneration, infantile; SNDI|hereditary infantile bilateral striatal necrosis|familial bilateral striatal necrosis|striatal degeneration, familial|familial infantile striatonigral degeneration|striatonigral degeneration, infantile|familial IBSN	http://purl.obolibrary.org/obo/MONDO_0010080	Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.	UMLS:CN201303|ORPHA:225154|http://identifiers.org/omim/271930
MONDO:0010082	subaortic stenosis-short stature syndrome	biolink:Disease	mondo	GARD:0000405|Orphanet:3191|MESH:C537749|UMLS:C0795947|OMIM:271960	ordo_malformation_syndrome|gard_rare	subaortic stenosis short stature syndrome|Onat syndrome|subaortic stenosis--short stature syndrome	http://purl.obolibrary.org/obo/MONDO_0010082		ORPHA:3191|UMLS:C0795947|MESH:C537749|http://identifiers.org/omim/271960
MONDO:0010081	subaortic stenosis, membranous	biolink:Disease	mondo	MESH:C564793|OMIM:271950		subaortic stenosis, membranous	http://purl.obolibrary.org/obo/MONDO_0010081		MESH:C564793|http://identifiers.org/omim/271950
MONDO:0010084	sucrosuria, hiatus hernia and mental retardation	biolink:Disease	mondo	OMIM:272000|MESH:C564792|UMLS:C1848963		sucrosuria, hiatus hernia and mental retardation|sucrosuria, hiatus hernia and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0010084		UMLS:C1848963|http://identifiers.org/omim/272000|MESH:C564792
MONDO:0010083	succinic semialdehyde dehydrogenase deficiency	biolink:Disease	mondo	GARD:0007695|MESH:C535803|Orphanet:22|SCTID:49748000|ICD10:E72.8|OMIM:271980|DOID:0060175|UMLS:C0268631	gard_rare|ordo_disease	4-hydroxybutyric aciduria|GABA metabolic defect|Ssadh deficiency|SSADH deficiency|succinic semialdehyde dehydrogenase deficiency; SSADHD|SSADH|SSADHD|gamma-hydroxybutyric aciduria|succinic semialdehyde dehydrogenase deficiency|gamma-hydroxybutyricaciduria	http://purl.obolibrary.org/obo/MONDO_0010083	Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation.	ORPHA:22|UMLS:C0268631|SNOMEDCT:49748000|DOID:0060175|MESH:C535803|http://identifiers.org/omim/271980
MONDO:0010086	sudden infant death syndrome	biolink:Disease	mondo	NCIT:C85173|ICD10:R95|COHD:435937|MESH:D013398|UMLS:C0038644|SCTID:51178009|DOID:9007|EFO:0005303|OMIM:272120|GARD:0007711|ICD9:798.0|MedDRA:10042439	gard_rare	sudden infant death syndrome|sudden infant death syndrome (finding)|cot death (context-dependent category)|Crib death (context-dependent category)|Sids|crib death|sudden death of nonspecific cause in infancy|sudden infant death syndrome (context-dependent category)|SIDS|sudden infant death syndrome NOS (context-dependent category)|cot death	http://purl.obolibrary.org/obo/MONDO_0010086	Sudden infant death syndrome (SIDS) is the unexpected, sudden death of a child under age 1 which cannot be explained after a thorough investigation is conducted. Infants who are affected by the condition generally appear healthy with no suspicious signs and symptoms prior to the incident. It is the leading cause of death in infants age 1 to 12 months old. The exact underlying cause of SIDS is unknown; however, scientists suspect that it is likely a multifactorial condition (associated with the effects of multiple genes in combination with lifestyle and environmental factors). Although there is no guaranteed way to prevent SIDS, the American Academy of Pediatrics has a published list of recommendationsfor risk reduction. Please click on the link to access this resource.	MESH:D013398|SNOMEDCT:51178009|UMLS:C0038644|http://identifiers.org/omim/272120|NCIT:C85173|DOID:9007
MONDO:0010085	Schilder disease	biolink:Disease	mondo	OMIM:272100|ICD9:341.1|Orphanet:59298|SCTID:49692006|UMLS:C0007795|ICD10:G37.0	ordo_disease	Schilder disease|Schilder's disease|SUDANOPHILIC cerebral sclerosis|Myelinoclastic diffuse sclerosis	http://purl.obolibrary.org/obo/MONDO_0010085	Schilder's disease is a progressive demyelinating disorder of the central nervous system.	SNOMEDCT:49692006|ORPHA:59298|http://identifiers.org/omim/272100|UMLS:C0007795
HP:0011362	Abnormal hair quantity	biolink:PhenotypicFeature	mondo	UMLS:C4023401|UMLS:C4023397		Abnormality of hair density|Abnormal hair quantity	http://purl.obolibrary.org/obo/HP_0011362	An abnormal amount of hair.	
MONDO:0022055	Calabro syndrome	biolink:Disease	mondo	MESH:C537960|UMLS:C0796276|GARD:0008584	gard_rare	craniosynostosis, limb abnormalities, brevicollis, micrognathia, pulmonary stenosis, and genital defects	http://purl.obolibrary.org/obo/MONDO_0022055		UMLS:C0796276|MESH:C537960
MONDO:0022057	calcifying epithelial odontogenic tumor	biolink:Disease	mondo	MESH:C537961|UMLS:C0334574|GARD:0006256|NCIT:C54301|ICDO:9340/0	gard_rare	CEOT|calcifying epithelial odontogenic tumor|Pindborg tumor	http://purl.obolibrary.org/obo/MONDO_0022057	A slow growing, locally invasive neoplasm arising from tooth-forming tissues. It most often grows intraosseously in the mandible and less frequently in the maxilla. In a minority of cases it grows extraosseously in the gingiva. It is characterized by the presence of a fibrous stroma, epithelial cells with abundant eosinophilic cytoplasm, and amyloid material which is often calcified. Small tumors may be successfully treated with enucleation. Local resection is usually required for larger tumors. Recurrences have been reported in a minority of cases.	NCIT:C54301|UMLS:C0334574|MESH:C537961
HP:0011368	Epidermal thickening	biolink:PhenotypicFeature	mondo	UMLS:C4020752|UMLS:C0494876		Abnormality of keratinization	http://purl.obolibrary.org/obo/HP_0011368	Thickening of the epidermal layer of the skin.	
ENVO:01001357	desert	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001357	A landform which has been rendered barren or partially barren by environmental extremes, especially by low rainfall.	
MONDO:0010077	spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	biolink:Disease	mondo	UMLS:C1849011|ICD10:Q77.7|GARD:0010616|Orphanet:93358|MESH:C564794|OMIM:271665	ordo_disease	spondyloepimetaphyseal dysplasia - short limb - abnormal calcification|Smed, short limb-hand type|Smed, short limb-abnormal calcification type|SMED short limb-hand type|Smed-SL|Smed short limb-abnormal calcification type|spondylometaepiphyseal dysplasia short limb-hand type|Smed, type 2|spondylometaepiphyseal dysplasia short limb-abnormal calcification type|SMED type 2|spondylometaepiphyseal dysplasia, short limb-hand type|Smed-SL/Ac|spondylometaepiphyseal dysplasia, short limb-abnormal calcification type	http://purl.obolibrary.org/obo/MONDO_0010077	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.	UMLS:C1849011|MESH:C564794|http://identifiers.org/omim/271665|ORPHA:93358
MONDO:0009099	nephrogenic diabetes insipidus-intracranial calcification syndrome	biolink:Disease	mondo	OMIM:221995|Orphanet:3145|SCTID:716200002|ICD10:N21.5|GARD:0000259	ordo_disease|gard_rare	diabetes insipidus, nephrogenic, with intellectual disability and intracerebral calcification|diabetes insipidus nephrogenic intellectual disability and intracerebral calcification|diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification|diabetes insipidus nephrogenic mental retardation and intracerebral calcification|Schofer-Beetz-Bohl syndrome|Schofer Beetz Bohl syndrome	http://purl.obolibrary.org/obo/MONDO_0009099	This syndrome is characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism.	SNOMEDCT:716200002|ORPHA:3145|http://identifiers.org/omim/221995
MONDO:0010076	spondyloepimetaphyseal dysplasia, Irapa type	biolink:Disease	mondo	UMLS:C0432213|MESH:C562958|OMIM:271650|SCTID:717330004|ICD10:Q77.7|Orphanet:93351	ordo_disease	spondyloepimetaphyseal dysplasia, Irapa type|SEMDIT|spondyloepimetaphyseal dysplasia, Irapa type; SEMDIT|SEMD, Irapa type	http://purl.obolibrary.org/obo/MONDO_0010076	Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.	http://identifiers.org/omim/271650|ORPHA:93351|MESH:C562958|SNOMEDCT:717330004|UMLS:C0432213
MONDO:0009098	dextrocardia with unusual facies and microphthalmia	biolink:Disease	mondo	GARD:0000136|MESH:C538269|UMLS:C1857298|OMIM:221950	gard_rare	Aughton syndrome|dextrocardia with unusual facies and microphthalmia|dextrocardia, microphthalmia, cleft palate, choreoathetosis and mental retardation|dextrocardia, microphthalmia, cleft palate, choreoathetosis and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0009098		MESH:C538269|UMLS:C1857298|http://identifiers.org/omim/221950
MONDO:0009097	persistent hyperplastic primary vitreous, autosomal recessive	biolink:Disease	mondo	Orphanet:300337|OMIM:221900|UMLS:C1969783		retinal nonattachment, nonsyndromic congenital|retinal nonattachment and falciform detachment|autosomal recessive persistent hyperplastic primary vitreous|persistent fetal vasculature|persistent hyperplastic primary vitreous, autosomal recessive; PHPVAR|persistent hyperplastic primary vitreous, autosomal recessive|PHPVAR	http://purl.obolibrary.org/obo/MONDO_0009097	Autosomal recessive form of persistent hyperplastic primary vitreous.	ORPHA:300337|UMLS:C1969783|http://identifiers.org/omim/221900
MONDO:0010079	Canavan disease	biolink:Disease	mondo	MedDRA:10067608|GARD:0005984|OMIM:271900|SCTID:80544005|ICD10:E75.2|NCIT:C84611|UMLS:C0206307|DOID:3613|Orphanet:141|MESH:D017825	ordo_disease|gard_rare	Aspa deficiency|aminoacylase 2 deficiency|Canavan disease|aspartoacylase deficiency|spongy degeneration of the brain|Von Bogaert-Bertrand disease|spongy degeneration of the central nervous system|Acy2 deficiency|spongy degeneration of central nervous system|ACY2 deficiency|Canavan-VAN Bogaert-Bertrand disease|spongy Degeneration of central nervous system|Canavan-Van Bogaert-Bertrand disease|Asp deficiency	http://purl.obolibrary.org/obo/MONDO_0010079	Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay.	DOID:3613|http://identifiers.org/omim/271900|NCIT:C84611|MESH:D017825|MEDDRA:10067608|SNOMEDCT:80544005|ORPHA:141|UMLS:C0206307
MONDO:0009096	hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia	biolink:Disease	mondo	MESH:C580150|OMIM:221820|UMLS:C3711381|Orphanet:313808|GARD:0010981|ICD9:323.81|NCIT:C153289|DOID:0080523|SCTID:702427005|ICD10:E75.2	ordo_disease	ALSP|pigmentary orthochromatic leukodystrophy|subcortical gliosis of Neumann|POLD|leukoencephalopathy, hereditary diffuse, with spheroids|adult-onset leukodystrophy with neuroaxonal spheroids|hereditary diffuse leukoencephalopathy with spheroids|leukoencephalopathy, adult-onset, with axonal spheroids and pigmented glia|neuroaxonal leukodystrophy|familial dementia, Neumann type|leukoencephalopathy with neuroaxonal spheroids, autosomal dominant|dementia, familial, Neumann type|FPSG|leukoencephalopathy, hereditary diffuse, with spheroids; HDLS|familial progressive subcortical gliosis|gliosis, familial progressive subcortical|leukoencephalopathy, diffuse hereditary, with spheroids|hereditary diffuse leukoencephalopathy with axonal spheroids|HDLS|autosomal dominant leukoencephalopathy with neuroaxonal spheroids|leukoencephalopathy, diffuse hereditary, with spheroids; HDLS|adult-onset leukoencephalopathy with axonal spheroids and pigmented glia|GPSC	http://purl.obolibrary.org/obo/MONDO_0009096	Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.	UMLS:C3711381|SNOMEDCT:702427005|MESH:C580150|ORPHA:313808|NCIT:C153289|http://identifiers.org/omim/221820|DOID:0080523
MONDO:0010078	spondyloperipheral dysplasia-short ulna syndrome	biolink:Disease	mondo	ICD9:758.89|GARD:0004994|ICD10:Q77.7|MESH:C535799|UMLS:C0796173|Orphanet:1856|OMIM:271700|SCTID:702339001|NCIT:C135088	ordo_disease	spondyloperipheral dysplasia with short ulna|spondyloperipheral dysplasia	http://purl.obolibrary.org/obo/MONDO_0010078	An autosomal dominant condition caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain. It is characterized by short stature, pugilistic facies, midface hypoplasia, spondyloepiphyseal dysplasia, kyphosis, short ulna, and absent styloid process. Mutation(s) in the same gene are responsible for Kniest dysplasia.	MESH:C535799|http://identifiers.org/omim/271700|NCIT:C135088|UMLS:C0796173|SNOMEDCT:702339001|ORPHA:1856
MONDO:0009095	dermatoosteolysis, Kirghizian type	biolink:Disease	mondo	OMIM:221810|MESH:C535373|UMLS:C1857301|GARD:0001814|Orphanet:1657|SCTID:721090002	gard_rare|ordo_malformation_syndrome	autosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontia|Kirghizian Dermatoosteolysis|dermatoosteolysis, Kirghizian type|Dermatoosteolysis Kirghizian type	http://purl.obolibrary.org/obo/MONDO_0009095	Dermatoosteolysis, Kirghizian type, is characterised by recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five sibs in a family of Kirghizian origin (Central Asia). Three of the sibs also presented with keratitis leading to visual impairment or blindess. Transmission is autosomal recessive.	MESH:C535373|UMLS:C1857301|http://identifiers.org/omim/221810|SNOMEDCT:721090002|ORPHA:1657
MONDO:0009094	dermochondrocorneal dystrophy	biolink:Disease	mondo	ICD9:379.99|UMLS:C0432288|OMIM:221800|Orphanet:79149|SCTID:254150007|MESH:C535375|GARD:0001815	ordo_disease	François syndrome|FranC'ois syndrome|DCCD|Francois syndrome|Dermochondrocorneal dystrophy of François|dermochondrocorneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0009094	Dermochondrocorneal dystrophy is characterised by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive.	MESH:C535375|UMLS:C0432288|ORPHA:79149|SNOMEDCT:254150007|http://identifiers.org/omim/221800
MONDO:0009093	dermatoleukodystrophy	biolink:Disease	mondo	MESH:C538220|UMLS:C1857314|GARD:0001813|OMIM:221790|ICD10:E75.2|Orphanet:1659|SCTID:733044009	ordo_disease|gard_rare	Dermatoleukodystrophy	http://purl.obolibrary.org/obo/MONDO_0009093	Dermatoleukodystrophy is characterised by the association of a progressive leukodystrophy marked by generalised mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood.	SNOMEDCT:733044009|MESH:C538220|http://identifiers.org/omim/221790|UMLS:C1857314|ORPHA:1659
MONDO:0009092	Nasu-Hakola disease	biolink:Disease	mondo	ICD9:758.89|GARD:9921|GARD:0009921|SCTID:702347001|Orphanet:2770|ICD10:E75.2|DOID:0090112|UMLS:C1857316|OMIMPS:221770	ordo_malformation_syndrome	PLOSL|polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy|progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease|polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL|NHD|polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly|brain-bone-fat disease|PLO-SL|PLOSL|presenile dementia with bone cysts|dementia, progressive, with lipomembranous polycystic osteodysplasia|dementia, prefrontal, with bone cysts|Nasu-Hakola disease	http://purl.obolibrary.org/obo/MONDO_0009092	Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.	DOID:0090112|SNOMEDCT:702347001|UMLS:C1857316|http://identifiers.org/omim/221770|ORPHA:2770|MESH:C536329
MONDO:0009091	non-acquired combined pituitary hormone deficiency with spine abnormalities	biolink:Disease	mondo	UMLS:C3489787|Orphanet:231720|GARD:0010603|OMIM:221750|MESH:C536710	ordo_malformation_syndrome|gard_rare	deafness, sensorineural, with pituitary dwarfism|non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome|Pituitary hormone deficiency, combined with rigid cervical spine|non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome|pituitary hormone deficiency, combined, type 3|CPHD3|Winkelmann-Bethge-Pfeiffer syndrome|Deafness, sensorineural with pituitary dwarfism|pituitary hormone deficiency, combined, 3; CPHD3|pituitary hormone deficiency, combined, with rigid cervical spine|pituitary hormone deficiency, combined, 3	http://purl.obolibrary.org/obo/MONDO_0009091	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.	UMLS:C3489787|http://identifiers.org/omim/221750|ORPHA:231720|MESH:C536710
MONDO:0009090	deafness, sensorineural, autosomal-mitochondrial type	biolink:Disease	mondo	OMIM:221745|DOID:0111752|MESH:C565637		deafness, sensorineural, autosomal-mitochondrial type	http://purl.obolibrary.org/obo/MONDO_0009090		http://identifiers.org/omim/221745|DOID:0111752|MESH:C565637
MONDO:0010071	obsolete spondyloenchondrodysplasia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0010071		
MONDO:0010070	BCYM1A	biolink:Disease	mondo	OMIM:271530|MESH:C537099|UMLS:C1849055|Orphanet:93301		BCYM1A|spondylodysplasia with Pure brachyolmia|brachyolmia, recessive type of Hobaek|brachyolmia type 1, Hobaek type; BCYM1A|brachyolmia type 1, Hobaek type	http://purl.obolibrary.org/obo/MONDO_0010070		ORPHA:93301|MESH:C537099|UMLS:C1849055|http://identifiers.org/omim/271530
MONDO:0010073	spondyloepiphyseal dysplasia tarda, Kohn type	biolink:Disease	mondo	UMLS:C1849053|ICD10:Q77.7|Orphanet:163665|MESH:C564796|SCTID:719202006|OMIM:271620	ordo_disease	spondyloepiphyseal dysplasia tarda with mental retardation|spondyloepiphyseal dysplasia tarda with intellectual disability|Sedt with mental retardation|Sedt with intellectual disability	http://purl.obolibrary.org/obo/MONDO_0010073	Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.	http://identifiers.org/omim/271620|SNOMEDCT:719202006|ORPHA:163665|UMLS:C1849053|MESH:C564796
MONDO:0010072	spondyloepiphyseal dysplasia tarda, autosomal recessive	biolink:Disease	mondo	MESH:C564797|UMLS:C1849054|OMIM:271600		autosomal recessive spondyloepiphyseal dysplasia tarda|spondyloepiphyseal dysplasia tarda, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0010072	Autosomal recessive form of spondyloepiphyseal dysplasia tarda.	UMLS:C1849054|MESH:C564797|http://identifiers.org/omim/271600
MONDO:0010075	spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	biolink:Disease	mondo	OMIM:271640|DOID:0112198		spondyloepimetaphyseal dysplasia with JOINT laxity, type 1, with or without fractures; SEMDJL1|SEMDJL1|spondyloepimetaphyseal dysplasia with joint laxity caused by mutation in B3GALT6|SEMDJL|B3GALT6 spondyloepimetaphyseal dysplasia with joint laxity|spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	http://purl.obolibrary.org/obo/MONDO_0010075	Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene.	http://identifiers.org/omim/271640|DOID:0112198
MONDO:0010074	BCYM1B	biolink:Disease	mondo	OMIM:271630|UMLS:C1849048|Orphanet:93303|MESH:C535787		spondyloepiphyseal dysplasia tarda, Toledo type|Sed, chondroitin sulfate type|BCYM1B|brachyolmia type 1, Toledo type; BCYM1B|brachyolmia type 1, Toledo type|PAPS-chondroitin sulfate sulfotransferase deficiency	http://purl.obolibrary.org/obo/MONDO_0010074		http://identifiers.org/omim/271630|ORPHA:93303|UMLS:C1849048|MESH:C535787
HP:0011354	Generalized abnormality of skin	biolink:PhenotypicFeature	mondo	UMLS:C4021157		Generalised abnormality of skin|Generalized abnormality of skin	http://purl.obolibrary.org/obo/HP_0011354	An abnormality of the skin that is not localized to any one particular region.	
HP:0011355	Localized skin lesion	biolink:PhenotypicFeature	mondo	UMLS:C0850826		Localised skin lesion|Localized skin lesion	http://purl.obolibrary.org/obo/HP_0011355	A lesion of the skin that is located in a specific region rather than being generalized.	
HP:0011356	Regional abnormality of skin	biolink:PhenotypicFeature	mondo	UMLS:C4023402			http://purl.obolibrary.org/obo/HP_0011356	An abnormality of the skin that is restricted to a particular body region.	
HP:0011357	obsolete Abnormality of hair density	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0011357		
GO:0002284	myeloid dendritic cell differentiation involved in immune response	biolink:OntologyClass	mondo			myeloid dendritic cell differentiation during immune response	http://purl.obolibrary.org/obo/GO_0002284	The process in which an immature myeloid dendritic cell acquires the specialized features of a mature myeloid dendritic cell as part of an immune response.	
GO:0002285	lymphocyte activation involved in immune response	biolink:OntologyClass	mondo			lymphocyte activation during immune response	http://purl.obolibrary.org/obo/GO_0002285	A change in morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response.	
GO:0002286	T cell activation involved in immune response	biolink:OntologyClass	mondo			T-cell activation during immune response|T lymphocyte activation during immune response|T-lymphocyte activation during immune response|T cell activation during immune response	http://purl.obolibrary.org/obo/GO_0002286	The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific, leading to the initiation or perpetuation of an immune response.	
OBO:chebi#is_substituent_group_from	is substituent group from	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/chebi#is_substituent_group_from		
MONDO:0009069	congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	biolink:Disease	mondo	OMIM:220111|SCTID:718219002|Orphanet:70472|ICD10:G31.8|MESH:C537004|GARD:0008370	ordo_disease	Cox deficiency, Saguenay Lac saint Jean type|Cox deficiency, French Canadian type|cytochrome C oxidase deficiency, French Canadian type|COX deficiency, French-Canadian type|Leigh syndrome, French Canadian type|cytochrome C oxidase deficiency, French-Canadian type|Leigh syndrome, French Canadian type; LSFC|LSFC|Leigh syndrome, Saguenay-Lac-Saint-Jean type|Cox deficiency, Saguenay-Lac-Saint-Jean type|Leigh syndrome, Saguenay Lac saint Jean type|cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type|SLSJ-COX deficiency|Leigh syndrome, French-Canadian type	http://purl.obolibrary.org/obo/MONDO_0009069	Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.	http://identifiers.org/omim/220111|MESH:C537004|ORPHA:70472|SNOMEDCT:718219002
MONDO:0009068	cytochrome-c oxidase deficiency disease	biolink:Disease	mondo	ICD10:E88.8|SCTID:67434000|Orphanet:254905|GARD:0000048|DOID:3762|NCIT:C98910|MESH:D030401|OMIM:220110|UMLS:C0268237	gard_rare|ordo_disease	Complex 4 mitochondrial respiratory chain deficiency|isolated COX deficiency|COX deficiency|Complex IV deficiency|Cox deficiency|isolated cytochrome C oxidase deficiency|cytochrome C oxidase deficiency|mitochondrial Complex 4 deficiency|isolated mitochondrial respiratory chain complex IV deficiency|cytochrome-C oxidase deficiency|mitochondrial complex IV deficiency|deficiency of mitochondrial respiratory chain complex4	http://purl.obolibrary.org/obo/MONDO_0009068	A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis.	http://identifiers.org/omim/220110|MESH:D030401|SNOMEDCT:67434000|ORPHA:254905|DOID:3762|NCIT:C98910|UMLS:C0268237
GO:0002281	macrophage activation involved in immune response	biolink:OntologyClass	mondo			macrophage polarization involved in immune response|macrophage activation during immune response	http://purl.obolibrary.org/obo/GO_0002281	A change in morphology and behavior of a macrophage resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response.	
MONDO:0009067	cystinuria (disease)	biolink:Disease	mondo	NCIT:C84664|ICD10:E72.01|HP:0003131|SCTID:85020001|MESH:D003555|ICD10:E72.0|OMIM:220100|GARD:0006237|MedDRA:10011778|DOID:9266|Orphanet:214|UMLS:C0010691	gard_rare|ordo_disease	cystinuria, type II|cystinuria, type B|cystinuria, type a|CSNU|cystinuria-lysinuria|cystinuria, type III, formerly|cystinuria, type non-I, formerly|cystinuria, type I, formerly|cystinuria, type non-I|cystinuria, type III|cystinuria-lysinuria syndrome|cystinuria, type I|cystinuria|cystinuria, type II, formerly|cystinuria, type A/B	http://purl.obolibrary.org/obo/MONDO_0009067	Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones.	UMLS:C0268646|MESH:D003555|http://identifiers.org/omim/220100|MEDDRA:10011778|ORPHA:214|SNOMEDCT:85020001|UMLS:C0010691|DOID:9266|NCIT:C84664
MONDO:0010066	familial isolated congenital asplenia	biolink:Disease	mondo	ICD10:Q89.0|Orphanet:101351|MESH:C563028|SCTID:726708009|OMIM:271400	ordo_morphological_anomaly	ICAS|asplenia, isolated congenital; ICAS|hyposplenia, isolated congenital|splenic hypoplasia|asplenia, familial|asplenia, isolated congenital	http://purl.obolibrary.org/obo/MONDO_0010066	Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.	MESH:C563028|http://identifiers.org/omim/271400|SNOMEDCT:726708009|ORPHA:101351
MONDO:0009066	juvenile nephropathic cystinosis	biolink:Disease	mondo	ICD10:N16.3*|MESH:C562683|ICD10:E72.0+|EFO:0009049|Orphanet:411634|UMLS:C0268626|OMIM:219900|SCTID:22830006	ordo_clinical_subtype	intermediate cystinosis|cystinosis, intermediate|cystinosis, late-onset juvenile or adolescent nephropathic type|juvenile cystinosis	http://purl.obolibrary.org/obo/MONDO_0009066	Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.	UMLS:C0268626|SNOMEDCT:22830006|ORPHA:411634|MESH:C562683|http://identifiers.org/omim/219900
MONDO:0010065	spinocerebellar degeneration with slow eye movements	biolink:Disease	mondo	OMIM:271322		SDSEM|spinocerebellar degeneration with slow eye movements; SDSEM|spinocerebellar degeneration with slow eye movements	http://purl.obolibrary.org/obo/MONDO_0010065		http://identifiers.org/omim/271322
MONDO:0009065	obsolete cystinosis, nephropathic	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0009065		
MONDO:0010068	spondyloepimetaphyseal dysplasia, sponastrime type	biolink:Disease	mondo	SCTID:389161008|MESH:C535786|OMIM:271510|DOID:5684|GARD:0004970|NCIT:C129031|ICD10:Q77.7|ICD9:756.9|Orphanet:93357	gard_rare|ordo_disease	spondyloepimetaphyseal dysplasia Sponastrime type|spondyloepimetaphyseal dysplasia, sponastrime type|short-limb dwarfism with saddle Nose, spinal alterations, and metaphyseal striation|spondylar and nasal alterations with striated metaphyses|sponastrime dysplasia|short limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation|spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia|Sponastrime dysplasia|spondylar and nasal alterations-striated metaphyses syndrome|spondyloepimetaphyseal dysplasia, Sponastrime type|spondylar and nasal changes with triations of the metaphyses (SPONASTRIME) dysplasia	http://purl.obolibrary.org/obo/MONDO_0010068	A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation.	SNOMEDCT:389161008|MESH:C535786|http://identifiers.org/omim/271510|ORPHA:93357|NCIT:C129031|DOID:5684
MONDO:0009064	ocular cystinosis	biolink:Disease	mondo	UMLS:C2931013|MESH:C535765|OMIM:219750|Orphanet:411641|ICD10:E72.0	ordo_clinical_subtype	cystinosis, ADULT NONNEPHROPATHIC|cystinosis, ocular Nonnephropathic|non-nephropathic cystinosis|adult-onset cystinosis|cystinosis, benign Nonnephropathic	http://purl.obolibrary.org/obo/MONDO_0009064	Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations.	ORPHA:411641|MESH:C535765|UMLS:C2931013|http://identifiers.org/omim/219750
MONDO:0010067	splenoportal vascular anomalies	biolink:Disease	mondo	OMIM:271500|SCTID:234131004|MESH:C562761		splenoportal vascular anomalies	http://purl.obolibrary.org/obo/MONDO_0010067		http://identifiers.org/omim/271500|MESH:C562761|SNOMEDCT:234131004
MONDO:0009063	ventriculomegaly-cystic kidney disease	biolink:Disease	mondo	Orphanet:443988|OMIM:219730|DOID:0111625|UMLS:C1857423	ordo_disease	ventriculomegaly with cystic kidney disease|congenital nephrosis-cerebral ventriculomegaly syndrome|ventriculomegaly with cystic kidney disease; VMCKD|VMCKD	http://purl.obolibrary.org/obo/MONDO_0009063		ORPHA:443988|UMLS:C1857423|DOID:0111625|http://identifiers.org/omim/219730
MONDO:0009062	cystic fibrosis-gastritis-megaloblastic anemia syndrome	biolink:Disease	mondo	OMIM:219721|GARD:0003303|MESH:C537039|Orphanet:2575|SCTID:720401009	ordo_disease	cystic fibrosis with Helicobacter pylori gastritis, megaloblastic anemia, and intellectual disability|cystic fibrosis, Helicobacter pylori gastritis, megaloblastic anemia, subnormal mentality and minor anomalies|cystic fibrosis gastritis megaloblastic anemia|cystic fibrosis with Helicobacter pylori gastritis, megaloblastic anemia, and mental retardation|Lubani-Al Saleh-Teebi syndrome|Lubani Al Saleh Teebi syndrome	http://purl.obolibrary.org/obo/MONDO_0009062	A rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.	MESH:C537039|ORPHA:2575|UMLS:C2931402|http://identifiers.org/omim/219721|SNOMEDCT:720401009
MONDO:0009061	cystic fibrosis	biolink:Disease	mondo	MESH:D003550|ICD10:E84.9|DOID:1485|COHD:441267|ICD10:E84|ICD10:E84.8|NCIT:C2975|GARD:0006233|UMLS:C0010674|ICD9:277.0|ICD10:E84.1|SCTID:190905008|ICD10:E84.0|Orphanet:586|MedDRA:10011762|OMIM:219700	ordo_disease|gard_rare	cystic fibrosis; CF|mucoviscidosis|CF|cystic fibrosis	http://purl.obolibrary.org/obo/MONDO_0009061	Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.	NCIT:C2975|MEDDRA:10011762|ORPHA:586|UMLS:C0010674|DOID:1485|SNOMEDCT:190905008|http://identifiers.org/omim/219700|MESH:D003550
MONDO:0010069	spondylocostal dysostosis-anal and genitourinary malformations syndrome	biolink:Disease	mondo	OMIM:271520|Orphanet:94095|UMLS:C1849069|MESH:C564799|ICD10:Q87.8	ordo_malformation_syndrome	CMn syndrome|Casamassima-Morton-Nance syndrome|spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome|spondylocostal dysostosis with anal atresia and urogenital anomalies	http://purl.obolibrary.org/obo/MONDO_0010069	Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterised by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested.	UMLS:C1849069|http://identifiers.org/omim/271520|ORPHA:94095|MESH:C564799
MONDO:0009060	cystic disease of lung	biolink:Disease	mondo	OMIM:219600|UMLS:C1384901|MESH:C563237		cystic disease of lung	http://purl.obolibrary.org/obo/MONDO_0009060		MESH:C563237|UMLS:C1384901|http://identifiers.org/omim/219600
MONDO:0010060	infantile onset spinocerebellar ataxia	biolink:Disease	mondo	Orphanet:1186|MESH:C535523|DOID:0080126|OMIM:271245|SCTID:724227000|DOID:0050556|UMLS:C1849096|ICD10:G11.1|GARD:0004062	ordo_disease	OHAHA syndrome|Ohaha syndrome|ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome|mitochondrial DNA depletion syndrome type 7|MTDPS7|ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis|TWNK autosomal recessive degenerative and progressive cerebellar ataxia|IOSCA|mitochondrial DNA depletion syndrome 7 (hepatocerebral type); MTDPS7|spinocerebellar ataxia 8, formerly|autosomal recessive degenerative and progressive cerebellar ataxia caused by mutation in TWNK|ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis|spinocerebellar ataxia, infantile, with sensory neuropathy|spinocerebellar ataxia 8 (formerly)|mitochondrial DNA depletion syndrome 7 (hepatocerebral type)|spinocerebellar ataxia 8|spinocerebellar ataxia, infantile-onset|ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis|SCA8 (formerly)|spinocerebellar ataxia infantile with sensory neuropathy|mitochondrial DNA depletion syndrome 7	http://purl.obolibrary.org/obo/MONDO_0010060	Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.	DOID:0080126|ORPHA:1186|DOID:0050556|SNOMEDCT:724227000|MESH:C535523|http://identifiers.org/omim/271245|UMLS:C1849096
MONDO:0010062	spinocerebellar ataxia-dysmorphism syndrome	biolink:Disease	mondo	UMLS:C1849088|ICD10:G11.8|MESH:C564802|OMIM:271270|Orphanet:1185|GARD:0004958	ordo_disease	spinocerebellar ataxia with dysmorphism	http://purl.obolibrary.org/obo/MONDO_0010062	Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive.	UMLS:C1849088|MESH:C564802|ORPHA:1185|http://identifiers.org/omim/271270
MONDO:0010061	autosomal recessive cerebellar ataxia-blindness-deafness syndrome	biolink:Disease	mondo	ICD10:G11.1|DOID:0111612|OMIM:271250|Orphanet:95433|UMLS:C1849094|MESH:C537309|GARD:0009971	ordo_disease	autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome|spinocerebellar ataxia with blindness and deafness|SCABD|spinocerebellar ataxia, autosomal recessive 3|spinocerebellar ataxia autosomal recessive 3|autosomal recessive cerebellar ataxia - blindness - deafness|autosomal recessive spinocerebellar ataxia type 3|spinocerebellar ataxia, autosomal recessive 3; SCAR3|autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome|SCAR3	http://purl.obolibrary.org/obo/MONDO_0010061		ORPHA:95433|MESH:C537309|DOID:0111612|UMLS:C1849094|http://identifiers.org/omim/271250
MONDO:0010064	spastic ataxia-corneal dystrophy syndrome	biolink:Disease	mondo	Orphanet:2572|OMIM:271320|SCTID:715465001|ICD10:G11.8|GARD:0003795|UMLS:C1849085|MESH:C536989	ordo_disease	spastic ataxia-ocular anomalies syndrome|spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs|Mousa-Al Din-Al Nassar syndrome|spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia|Bedouin spastic ataxia syndrome|Mousa Al din Al Nassar syndrome	http://purl.obolibrary.org/obo/MONDO_0010064	Mousa-AlDin-AlNassar syndrome is characterised by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia.	UMLS:C1849085|MESH:C536989|http://identifiers.org/omim/271320|ORPHA:2572|SNOMEDCT:715465001
MONDO:0010063	corneal-cerebellar syndrome	biolink:Disease	mondo	Orphanet:3177|SCTID:720750004|UMLS:C1849087|ICD10:G11.1|GARD:0001525|OMIM:271310|MESH:C535472	ordo_malformation_syndrome	spinocerebellar degeneration corneal dystrophy|corneal-cerebellar syndrome|spinocerebellar degeneration-corneal dystrophy syndrome|corneal cerebellar syndrome|Der Kaloustian Jarudi Khoury syndrome|corneal dystrophy with spinocerebellar Degeneration|Der Kaloustian-Jarudi-Khoury syndrome|spinocerebellar degeneration and corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0010063	Corneal cerebellar syndrome is characterised by the unusual combination of spinocerebellar degeneration and corneal dystrophy. Three sisters born to normal consanguineous parents have been reported, one of whom had only minor spinocerebellar signs without ocular involvement.	UMLS:C1849087|http://identifiers.org/omim/271310|SNOMEDCT:720750004|ORPHA:3177|MESH:C535472
MONDO:0022034	lentivirus infection	biolink:Disease	mondo	MESH:D016180|UMLS:C0079680|EFO:1001357		Disease due to Lentivirus|Infection, Lentivirus|Lentivirus Infections|Infections, Lentivirus|Lentivirus Infection|Disease caused by Lentivirus	http://purl.obolibrary.org/obo/MONDO_0022034	Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection.	UMLS:C0079680|MESH:D016180
MONDO:0022037	large-cell immunoblastic lymphoma	biolink:Disease	mondo	MESH:D016400|GARD:0008219|UMLS:C0079746	gard_rare	Lymphoma, Immunoblastic, Large Cell|Large-Cell Immunoblastic Lymphomas|Diffuse non-Hodgkin's lymphoma, immunoblastic (clinical)|Diffuse non-Hodgkin's immunoblastic (diffuse) lymphoma|Lymphoma, immunoblastic, high grade|Immunoblastic malignant lymphoma - large cell|Large Cell Immunoblastic Lymphoma|Lymphoma, Large-Cell, Immunoblastic|Diffuse Immunoblastic Lymphosarcomas|Lymphoma, Immunoblastic, Large-Cell|Immunoblastic Lymphoma, Large-Cell|Lymphoma, Immunoblastic Large-Cell|Sarcoma, Immunoblastic|Immunoblastic Lymphoma|Lymphosarcomas, Diffuse Immunoblastic|Immunoblastic Lymphosarcomas, Diffuse|LARGE IMMUNOBLASTIC LYMPHOMA|LYMPHOMA IMMUNOBLASTIC LARGE|IMMUNOBLASTIC LARGE LYMPHOMA|Immunoblastic Lymphosarcoma, Diffuse|Immunoblastic Large-Cell Lymphoma|LYMPHOMA LARGE IMMUNOBLASTIC|Lymphomas, Immunoblastic Large-Cell|Lymphoma, Large Cell, Immunoblastic|Diffuse non-Hodgkin lymphoma, immunoblastic|Immunoblastomas|Malignant lymphoma - immunoblastic|Large-Cell Lymphoma, Immunoblastic|Immunoblastic Sarcomas|Immunoblastic Sarcoma|Immunoblastic Large Cell Lymphoma|Lymphoma, Large-Cell Immunoblastic|Immunoblastoma|Diffuse non-Hodgkin's lymphoma, immunoblastic|Large cell immunoblastic lymphoma|Immunoblastic Large-Cell Lymphomas|Lymphosarcoma, Diffuse Immunoblastic|Large-Cell Lymphomas, Immunoblastic|Immunoblastic Lymphomas, Large-Cell|Lymphomas, Large-Cell Immunoblastic|Diffuse Immunoblastic Lymphosarcoma|Sarcomas, Immunoblastic|Large-Cell Immunoblastic Lymphoma	http://purl.obolibrary.org/obo/MONDO_0022037	Malignant lymphoma characterized by the presence of immunoblasts with uniformly round-to-oval nuclei, one or more prominent nucleoli, and abundant cytoplasm. This class may be subdivided into plasmacytoid and clear-cell types based on cytoplasmic characteristics. A third category, pleomorphous, may be analogous to some of the peripheral T-cell lymphomas (LYMPHOMA, T-CELL, PERIPHERAL) recorded in both the United States and Japan.	UMLS:C0079746|MESH:D016400
GO:0002292	T cell differentiation involved in immune response	biolink:OntologyClass	mondo			T lymphocyte differentiation during immune response|T-cell differentiation during immune response|T cell differentiation during immune response|T cell development involved in immune response|T-lymphocyte differentiation during immune response	http://purl.obolibrary.org/obo/GO_0002292	The process in which an antigenically naive T cell acquires the specialized features of an effector, regulatory, or memory T cell as part of an immune response. Effector T cells include cells which provide T cell help or exhibit cytotoxicity towards other cells.	
MONDO:0009079	DOORS syndrome	biolink:Disease	mondo	ICD10:Q87.8|DOID:0111627|Orphanet:79500|SCTID:719800009|GARD:0001685|MESH:C563052|OMIM:220500	gard_rare|ordo_malformation_syndrome	autosomal recessive deafness-onychodystrophy syndrome|deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome; DOORS|door syndrome|DOORS|deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome|deafness onychodystrophy osteodystrophy and mental retardation syndrome|deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome|brachydactyly due to absence of distal phalanges|deafness onychodystrophy osteodystrophy and intellectual disability syndrome|deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures syndrome; DOORS|deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures syndrome|deafness-onychoosteodystrophy-intellectual disability syndrome|Eronen syndrome|drc syndrome|DOORS syndrome|deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome|Digitorenocerebral syndrome	http://purl.obolibrary.org/obo/MONDO_0009079	DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome.	SNOMEDCT:719800009|http://identifiers.org/omim/220500|DOID:0111627|ORPHA:79500|MESH:C563052
MONDO:0009078	Jervell and Lange-Nielsen syndrome	biolink:Disease	mondo	SCTID:373905003|Orphanet:90647|ICD10:I45.8|MedDRA:10057936|UMLS:C0022387|NCIT:C84793|OMIMPS:220400	prototype_pattern|ordo_clinical_subtype	Jervell and Lange-Nielsen syndrome type 1|Jervell and Lange-Nielsen syndrome 1|Jervell and Lange Nielsen syndrome|long QT interval-deafness syndrome|JLNS1	http://purl.obolibrary.org/obo/MONDO_0009078	Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive variant of familial long QT syndrome characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval on electrocardiogram and ventricular tachyarrhythmias.	ORPHA:90647|UMLS:C0022387|SNOMEDCT:373905003|MEDDRA:10057936|NCIT:C84793
MONDO:0009077	deafness, congenital, and familial myoclonic epilepsy	biolink:Disease	mondo	UMLS:C1857348|MESH:C565649|OMIM:220300		deafness, congenital, and familial myoclonic epilepsy	http://purl.obolibrary.org/obo/MONDO_0009077		UMLS:C1857348|http://identifiers.org/omim/220300|MESH:C565649
MONDO:0010055	spinal muscular atrophy with microcephaly and mental subnormality	biolink:Disease	mondo	UMLS:C1849108|MESH:C564806|OMIM:271110		spinal muscular atrophy with microcephaly and mental subnormality	http://purl.obolibrary.org/obo/MONDO_0010055		http://identifiers.org/omim/271110|UMLS:C1849108|MESH:C564806
MONDO:0009076	autosomal recessive nonsyndromic deafness 1A	biolink:Disease	mondo	GARD:0001697|MESH:C567134|NCIT:C129022|OMIM:220290|DOID:0110475|ICD10:H90.3	gard_rare	DFNB1A|autosomal recessive nonsyndromic deafness type 1A|deafness, autosomal recessive type 1A|deafness nonsyndromic, connexin 26 linked|deafness, autosomal recessive 1A; DFNB1A|autosomal recessive deafness 1A|deafness, digenic, Gjb2/Gjb6|deafness, autosomal recessive 1A|DFNB1|connexin 26 deafness|deafness, digenic, Gjb2/Gjb3|GJB2-related deafness	http://purl.obolibrary.org/obo/MONDO_0009076	An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction.	http://identifiers.org/omim/220290|NCIT:C129022|DOID:0110475|MESH:C567134
MONDO:0010054	spinal muscular atrophy with mental retardation	biolink:Disease	mondo	MESH:C564807|UMLS:C1849109|OMIM:271109		spinal muscular atrophy with mental retardation|spinal muscular atrophy with intellectual disability	http://purl.obolibrary.org/obo/MONDO_0010054		http://identifiers.org/omim/271109|UMLS:C1849109|MESH:C564807
MONDO:0009075	Dandy-Walker malformation-postaxial polydactyly syndrome	biolink:Disease	mondo	GARD:0001669|MESH:C535771|SCTID:733094005|UMLS:C1857351|ICD10:Q87.8|Orphanet:1566|OMIM:220220	ordo_malformation_syndrome	DWM with postaxial polydactyly|Pierquin syndrome|Dandy-Walker malformation with postaxial polydactyly	http://purl.obolibrary.org/obo/MONDO_0009075	Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.	UMLS:C1857351|SNOMEDCT:733094005|ORPHA:1566|MESH:C535771|http://identifiers.org/omim/220220
MONDO:0010057	spinal muscular atrophy, Ryukyuan type	biolink:Disease	mondo	GARD:0009646|MESH:C536881|OMIM:271200|UMLS:C1849102	gard_rare	spinal muscular atrophy, Ryukyuan type|Ryukyuan muscular atrophy|spinal muscular atrophy Ryukyuan type	http://purl.obolibrary.org/obo/MONDO_0010057		MESH:C536881|http://identifiers.org/omim/271200|UMLS:C1849102
MONDO:0010056	spinal muscular atrophy, type IV	biolink:Disease	mondo	OMIM:271150|GARD:0000564|SCTID:85505000|ICD9:335.19|DOID:0050529|Orphanet:83420|ICD10:G12.1	ordo_clinical_subtype|gard_rare	spinal muscular atrophy, type IV|spinal muscular atrophy 4|spinal muscular atrophy, adult form|adult-onset spinal muscular atrophy|spinal muscular atrophy, proximal, adult, autosomal recessive|spinal muscular atrophy, type 4|SMA4|proximal spinal muscular atrophy type 4|SMA type IV|SMA4|SMA type 4|adult spinal muscular atrophy|SMA 4|spinal muscular atrophy type 4|spinal muscular atrophy, type IV; SMA4|spinal muscular atrophy of adults|SMA-IV	http://purl.obolibrary.org/obo/MONDO_0010056	Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.	DOID:0050529|http://identifiers.org/omim/271150|ORPHA:83420|SNOMEDCT:85505000
MONDO:0009074	facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome	biolink:Disease	mondo	OMIM:220219|MESH:C535985|ICD10:Q87.8|Orphanet:1970|UMLS:C1857352	ordo_malformation_syndrome	Dandy-Walker malformation with intellectual disability, macrocephaly, myopia, and BRACHYTELEPHALANGY|Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and BRACHYTELEPHALANGY	http://purl.obolibrary.org/obo/MONDO_0009074	Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterised by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive.	ORPHA:1970|MESH:C535985|http://identifiers.org/omim/220219|UMLS:C1857352
MONDO:0009073	Ritscher-Schinzel syndrome 1	biolink:Disease	mondo	DOID:0060571|OMIM:220210		Ritscher-Schinzel syndrome caused by mutation in WASHC5|Craniocerebellocardiac dysplasia|RTSC1|RTSC|Dandy-Walker-like malformation with atrioventricular septal defect|Ritscher-Schinzel syndrome|3C syndrome|Ritscher-Schinzel syndrome 1; RTSC1|Ritscher-Schinzel syndrome type 1|Ritscher-Schinzel syndrome; RTSC|WASHC5 Ritscher-Schinzel syndrome	http://purl.obolibrary.org/obo/MONDO_0009073	Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the WASHC5 gene.	DOID:0060571|http://identifiers.org/omim/220210
MONDO:0010059	obsolete spinal muscular atrophy, type I, with congenital bone fractures	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0010059		
MONDO:0009072	Dandy-Walker syndrome	biolink:Disease	mondo	GARD:0006242|MedDRA:10048411|COHD:4031189|EFO:1000890|ICD10:Q03.1|MESH:D003616|UMLS:C0010964|OMIM:220200|NCIT:C75012|SCTID:14447001|Orphanet:217|DOID:2785	ordo_morphological_anomaly	mega cisterna magna (type of DW complex)|Dandy-Walker malformation|Dandy-Walker complex|isolated Dandy-Walker malformation|atresia of foramina of Magendie and Luschka|DWS|Dandy-Walker variant (type of DW complex)|Dandy-Walker syndrome; DWS|Dandy-Walker syndrome|DW complex|Dandy-Walker syndrome or malformation (type of DW complex)	http://purl.obolibrary.org/obo/MONDO_0009072	Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia.	ORPHA:217|NCIT:C75012|DOID:2785|UMLS:C0010964|SNOMEDCT:14447001|MESH:D003616|http://identifiers.org/omim/220200
MONDO:0010058	scapuloperoneal spinal muscular atrophy, autosomal recessive	biolink:Disease	mondo	UMLS:CN074295|OMIM:271220		spinal muscular atrophy, scapuloperoneal	http://purl.obolibrary.org/obo/MONDO_0010058		http://identifiers.org/omim/271220|UMLS:CN074295
MONDO:0009071	hereditary renal hypouricemia	biolink:Disease	mondo	MESH:C537757|GARD:0009496|SCTID:236478009|Orphanet:94088|ICD9:790.6	ordo_malformation_syndrome	hypouricemia, renal|Dalmatian hypouricemia|renal hypouricemia	http://purl.obolibrary.org/obo/MONDO_0009071	Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF).	MESH:C537757|ORPHA:94088|SNOMEDCT:236478009
MONDO:0034082	obsolete necrobiosis lipoidica	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0034082		
MONDO:0009070	D-glyceric aciduria	biolink:Disease	mondo	ICD10:E74.8|DOID:0111626|UMLS:C1291386|GARD:0000234|SCTID:237980004|NCIT:C128804|Orphanet:941|MESH:C535767|UMLS:C0342765|OMIM:220120	ordo_disease	d-glyceric aciduria|D-glyceric acidemia|D-glycericacidemia|non ketotic hyperglycinemia syndrome|glycerate kinase deficiency|D-glycerate kinase deficiency	http://purl.obolibrary.org/obo/MONDO_0009070	A metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21.	SNOMEDCT:237980004|DOID:0111626|ORPHA:941|NCIT:C128804|MESH:C535767|UMLS:C0342765|UMLS:C1291386|http://identifiers.org/omim/220120
MONDO:0010051	spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome	biolink:Disease	mondo	MESH:C564808|Orphanet:3011|UMLS:C1849112|OMIM:270950|GARD:0004932	ordo_disease	spastic quadriplegia, retinitis pigmentosa, and intellectual disability|spastic quadriplegia retinitis pigmentosa mental retardation|progressive quadriparesis, mental retardation, retinitis pigmentosa and hearing loss|spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome|spastic quadriplegia retinitis pigmentosa intellectual disability|progressive quadriparesis, intellectual disability, retinitis pigmentosa and hearing loss|spastic quadriplegia, retinitis pigmentosa, and mental retardation	http://purl.obolibrary.org/obo/MONDO_0010051	Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome is characterized by nonprogressive spastic paraplegia, retinitis pigmentosa, and intellectual deficit. It has been described in two brothers born to consanguineous parents.	UMLS:C1849112|MESH:C564808|http://identifiers.org/omim/270950|ORPHA:3011
MONDO:0010050	spastic pseudosclerosis	biolink:Disease	mondo	UMLS:C0599464|OMIM:270900|MESH:C563024		Corticopallidodegeneration|disseminated encephalomyelopathy|spastic pseudosclerosis	http://purl.obolibrary.org/obo/MONDO_0010050		MESH:C563024|http://identifiers.org/omim/270900|UMLS:C0599464
MONDO:0010053	hereditary spherocytosis type 3	biolink:Disease	mondo	MESH:C567489|DOID:0110918|OMIM:270970|UMLS:C2678338		spherocytosis, type 3|HS3|hereditary spherocytosis caused by mutation in SPTA1|spherocytosis, hereditary, 3|hereditary spherocytosis 3|SPTA1 hereditary spherocytosis|spherocytosis, type 3; SPH3|SPH3	http://purl.obolibrary.org/obo/MONDO_0010053	Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTA1 gene.	DOID:0110918|http://identifiers.org/omim/270970|UMLS:C2678338|MESH:C567489
MONDO:0010052	spermatogenic failure 4	biolink:Disease	mondo	MESH:C536875|DOID:0070176|OMIM:270960|GARD:0008530	predisposition	azoospermia with maturation arrest|SYCP3 azoospermia|pregnancy loss, recurrent, susceptibility to, 4|spermatogenic failure 4|azoospermia caused by mutation in SYCP3|SPGF4|spermatogenic failure type 4|spermatogenesis arrest|arrest of spermatogenesis|azoospermia due to Perturbations of meiosis|spermatogenic failure 4; SPGF4|pregnancy loss, recurrent, 4	http://purl.obolibrary.org/obo/MONDO_0010052	Any azoospermia in which the cause of the disease is a mutation in the SYCP3 gene.	MESH:C536875|http://identifiers.org/omim/270960|DOID:0070176
GO:0002269	leukocyte activation involved in inflammatory response	biolink:OntologyClass	mondo			leukocyte activation during inflammatory response|immune cell activation during inflammatory response	http://purl.obolibrary.org/obo/GO_0002269	A change in the morphology or behavior of a leukocyte resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an inflammatory response.	
GO:0002262	myeloid cell homeostasis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002262	The process of regulating the proliferation and elimination of myeloid cells such that the total number of myeloid cells within a whole or part of an organism is stable over time in the absence of an outside stimulus.	
GO:0002263	cell activation involved in immune response	biolink:OntologyClass	mondo			cell activation during immune response	http://purl.obolibrary.org/obo/GO_0002263	A change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an immune response.	
HGNC:21285	ADCY10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21285		
ENVO:01001311	solid surface layer	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001311	A surface layer which is composed primarily of solid environmental material.	
GO:0002277	myeloid dendritic cell activation involved in immune response	biolink:OntologyClass	mondo			myeloid dendritic cell activation during immune response	http://purl.obolibrary.org/obo/GO_0002277	The change in morphology and behavior of a myeloid dendritic cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response.	
GO:0002279	mast cell activation involved in immune response	biolink:OntologyClass	mondo			mast cell activation during immune response	http://purl.obolibrary.org/obo/GO_0002279	The change in morphology and behavior of a mast cell resulting from exposure to a cytokine, chemokine, soluble factor, or to (at least in mammals) an antigen which the mast cell has specifically bound via IgE bound to Fc-epsilonRI receptors, leading to the initiation or perpetuation of an immune response.	
GO:0002274	myeloid leukocyte activation	biolink:OntologyClass	mondo			myeloid leucocyte activation	http://purl.obolibrary.org/obo/GO_0002274	A change in the morphology or behavior of a myeloid leukocyte resulting from exposure to an activating factor such as a cellular or soluble ligand.	
MONDO:0022094	Cartwright Nelson Fryns syndrome	biolink:Disease	mondo	GARD:0001132|UMLS:C2931062|MESH:C535917	gard_rare	Growth retardation, severe mental retardation, acral limb deficiencies with poorly keratinized nails|Growth retardation, severe intellectual disability, acral limb deficiencies with poorly keratinized nails	http://purl.obolibrary.org/obo/MONDO_0022094		MESH:C535917|UMLS:C2931062
GO:0002275	myeloid cell activation involved in immune response	biolink:OntologyClass	mondo			myeloid cell activation during immune response	http://purl.obolibrary.org/obo/GO_0002275	A change in the morphology or behavior of a myeloid cell resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an immune response.	
MONDO:0022096	pyogenic granuloma	biolink:Disease	mondo	MESH:D017789|GARD:0010963|SCTID:200722003|UMLS:C0085653		Granulomata Pyogenicum|Granuloma pyogenicum|angiogranulomas|PG - Pyogenic granuloma|Capillary Hemangioma, Lobular|hemangioma, Lobular Capillary|Granuloma Telangiecticum|Pyogenic Granuloma|Granuloma Pyogenicum|Lobular Capillary Hemangioma|Capillary hemangioma of granulation tissue type|Pyogenic granuloma|hemangiomatous Granulation Tissue|Lobular capillary hemangioma|Granuloma telangiectaticum|Granuloma, Pyogenic|Lobular Hemangioma|angiogranuloma|Granulation Tissue-Type Hemangioma	http://purl.obolibrary.org/obo/MONDO_0022096	A disorder of the skin, the oral mucosa, and the gingiva, that usually presents as a solitary polypoid capillary hemangioma often resulting from trauma. It is manifested as an inflammatory response with similar characteristics to those of a granuloma.	SNOMEDCT:200722003|UMLS:C0085653|MESH:D017789
ENVO:01001319	saline water body	biolink:OntologyClass	mondo			saline body of water	http://purl.obolibrary.org/obo/ENVO_01001319	A body of water which is primarily composed of saline water.	
MONDO:0022098	catamenial pneumothorax	biolink:Disease	mondo	GARD:0009858|UMLS:C0340007|SCTID:233642001|MESH:C538279	gard_rare	premenstrual pneumothorax|catamenial pneumothorax	http://purl.obolibrary.org/obo/MONDO_0022098	Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that occur within 72 hours before or after the start of menstruation. The exact cause of catamenial pneumothorax is unknown and several theories have been proposed. Many cases are associated with the abnormal development of endometrial tissue outside of the uterus (endometriosis). Some believe that catamenial pneumothorax is the most common form of thoracic endometriosis (a condition in which the endometrial tissue grows in or around the lungs). A diagnosis of catamenial pneumothorax is usually suspected when a woman of reproductive age and with endometriosis has episodes of pneumothorax.Treatment is with hormones and surgery.	MESH:C538279|SNOMEDCT:233642001|UMLS:C0340007
MONDO:0034022	myopathic Ehlers-Danlos syndrome	biolink:Disease	mondo	Orphanet:536516	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0034022		ORPHA:536516
MONDO:0034021	spondylodysplastic Ehlers-Danlos syndrome	biolink:Disease	mondo	Orphanet:536471	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0034021		ORPHA:536471
MONDO:0036688	rhabdomyoma	biolink:Disease	mondo	ICDO:8900/0|MESH:D012207|UMLS:C0035411|NCIT:C3358|SCTID:402877008		Rhabdomyomatous neoplasm|rhabdomyoma|rhabdomyoma, benign	http://purl.obolibrary.org/obo/MONDO_0036688	A benign mesenchymal tumor arising from skeletal or cardiac muscle.	MESH:D012207|UMLS:C0035411|SNOMEDCT:402877008|NCIT:C3358
ENVO:01001310	liquid surface layer	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001310	A surface layer which is composed primarily of some liquid.	
MONDO:0034024	kyphoscoliotic Ehlers-Danlos syndrome	biolink:Disease	mondo	Orphanet:536545	ordo_disease	EDS VI|kyphoscoliotic EDS	http://purl.obolibrary.org/obo/MONDO_0034024	A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype.	ORPHA:536545
MONDO:0022089	Carnevale hernandez castillo syndrome	biolink:Disease	mondo	GARD:0001117|MESH:C535585|UMLS:C2930940	gard_rare	Triphalyngeal thumbs and brachyectrodactyly	http://purl.obolibrary.org/obo/MONDO_0022089		UMLS:C2930940|MESH:C535585
GO:0002244	hematopoietic progenitor cell differentiation	biolink:OntologyClass	mondo			haematopoietic progenitor cell differentiation|haemopoietic progenitor cell differentiation|hemopoietic progenitor cell differentiation	http://purl.obolibrary.org/obo/GO_0002244	The process in which precursor cell type acquires the specialized features of a hematopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells.	
GO:0002246	wound healing involved in inflammatory response	biolink:OntologyClass	mondo			healing during inflammatory response|inflammatory response wound healing	http://purl.obolibrary.org/obo/GO_0002246	The series of events that restore integrity to damaged tissue that contribute to an inflammatory response.	
ENVO:01001346	erosion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001346	An action of exogenic processes (such as water flow or wind) which remove environmental material from one location on the surface of an astronomical body, transporting it to another location where it is deposited.	
NCBITaxon:135621	Pseudomonadaceae	organism taxon	mondo	GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_135621		
HP:0011390	Morphological abnormality of the inner ear	biolink:PhenotypicFeature	mondo	UMLS:C4023381			http://purl.obolibrary.org/obo/HP_0011390	A structural anomaly of the internal part of the ear.	
NCBITaxon:135625	Pasteurellales	organism taxon	mondo	PMID:16280474|GC_ID:11		Pasteruellaceae group	http://purl.obolibrary.org/obo/NCBITaxon_135625		
NCBITaxon:135624	Aeromonadales	organism taxon	mondo	PMID:16280474|GC_ID:11		Aeromonadaceae/Succinivibrionaceae group	http://purl.obolibrary.org/obo/NCBITaxon_135624		
NCBITaxon:135623	Vibrionales	organism taxon	mondo	GC_ID:11		Vibrionaceae group|'Vibrionales'	http://purl.obolibrary.org/obo/NCBITaxon_135623		
MONDO:0036696	spleen neoplasm	biolink:Disease	mondo	GARD:0007683|NCIT:C3383		tumor of spleen|splenic neoplasm|neoplasm of spleen|spleen tumor	http://purl.obolibrary.org/obo/MONDO_0036696	A benign or malignant neoplasm that affects the spleen. Representative examples include hemangioma, lymphoma, splenic involvement by leukemia, and angiosarcoma.	NCIT:C3383
GO:0016885	ligase activity, forming carbon-carbon bonds	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016885	Catalysis of the joining of two molecules via a carbon-carbon bond, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate.	
GO:0016881	acid-amino acid ligase activity	biolink:OntologyClass	mondo			peptide synthase activity	http://purl.obolibrary.org/obo/GO_0016881	Catalysis of the ligation of an acid to an amino acid via a carbon-nitrogen bond, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate.	
UBERON:5003635	pedal digit 5 plus metapodial segment	biolink:AnatomicalEntity	mondo			pedal digit 5 ray|pedal digit 5 ( phalanges plus metapodial) plus soft tissue|pedal digit 5 digitopodial subdivision|pedal digit 5|pedal digit V plus metapodial segment	http://purl.obolibrary.org/obo/UBERON_5003635	A subdivision of the autopod consisting of pedal digit 5 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis.	
HP:0011387	Enlarged vestibular aqueduct	biolink:PhenotypicFeature	mondo	MSH:C566366|UMLS:C1863752		Widened vestibular aqueduct|Dilated vestibular aqueduct	http://purl.obolibrary.org/obo/HP_0011387	Increased size of the vestibular aqueduct.	
ENVO:01001334	advective transport process	biolink:OntologyClass	mondo			advective transport	http://purl.obolibrary.org/obo/ENVO_01001334	A material transport process during which a volume of material is displaced due to a disequilibrium in physical forces and during which 1) the qualities that inhere in that volume and 2) the processes that are unfolding within it are largely unchanged.	
HP:0011389	Functional abnormality of the inner ear	biolink:PhenotypicFeature	mondo	UMLS:C4023382		Functional abnormality of the inner ear	http://purl.obolibrary.org/obo/HP_0011389	An abnormality of the function of the inner ear.	
UBERON:5003631	pedal digit 1 plus metapodial segment	biolink:AnatomicalEntity	mondo			pedal digit 1 digitopodial subdivision|pedal digit 1 ray|pedal digit 1 ( phalanges plus metapodial) plus soft tissue|pedal digit 1|pedal digit I plus metapodial segment	http://purl.obolibrary.org/obo/UBERON_5003631	A subdivision of the autopod consisting of pedal digit 1 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis.	
OBO:mondo#disease_has_basis_in_development_of	disease_has_basis_in_development_of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/mondo#disease_has_basis_in_development_of		
GO:0002250	adaptive immune response	biolink:OntologyClass	mondo			acquired immune response|immune memory response	http://purl.obolibrary.org/obo/GO_0002250	An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory).	
MONDO:0022070	Cantu sanchez-corona hernandez syndrome	biolink:Disease	mondo	GARD:0001083	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022070	Mild mental deficiency, short stature, macrocranium, cardiac anomalies, cutis laxa, peculiar facies, wrinkled palms and soles, small vertebral bodies	
MONDO:0022071	carbon baby syndrome	biolink:Disease	mondo	SCTID:238700008|UMLS:C0406419|GARD:0001089	gard_rare	universal acquired melanosis	http://purl.obolibrary.org/obo/MONDO_0022071	Carbon baby syndrome, also known as universal acquired melanosis, is a rare form of hyperpigmentation. The skin of affected infants progressively darkens over the first years of life in the absence of other symptoms. The cause of the condition is unknown.	SNOMEDCT:238700008|UMLS:C0406419
GO:0002252	immune effector process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002252	Any process of the immune system that can potentially contribute to an immune response.	
GO:0002253	activation of immune response	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002253	Any process that initiates an immune response.	
MONDO:0010099	Tay-Sachs disease AB variant	biolink:Disease	mondo	Orphanet:309246|MESH:D049290|SCTID:71253000|ICD10:E75.0|UMLS:C0268275|NCIT:C133084|DOID:4795|OMIM:272750	ordo_disease	Tay-Sachs disease, variant AB|hexosaminidase activator deficiency|GM2-gangliosidosis, AB variant|Ab variant GM2-gangliosidosis|GM2 activator deficiency|Tay-Sachs disease, AB variant|GM2 gangliosidosis, AB variant	http://purl.obolibrary.org/obo/MONDO_0010099	GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.	UMLS:C0268275|NCIT:C133084|SNOMEDCT:71253000|MESH:D049290|DOID:4795|http://identifiers.org/omim/272750|ORPHA:309246
MONDO:0010098	taurodontism (disease)	biolink:Disease	mondo	MESH:C536946|ICD10:K00.2|SCTID:51744007|OMIM:272700|HP:0000679|UMLS:C0266039|GARD:0005119|Orphanet:3289	ordo_morphological_anomaly	Bull teeth|large pulp chambers in the molars|taurodontism	http://purl.obolibrary.org/obo/MONDO_0010098	Taurodontism is a dental anomaly characterized by an elongated pulp chamber, displaced toward the apical floor of the tooth with no constriction at the level of the cemento-enamel junction, and short roots. It most frequently affects permanent molar teeth. Taurodontism increases the risk of pulp exposure. It can be isolated or associated with certain syndromes such as Down syndrome, amelogenesis imperfecta, and Klinefelter syndrome.	ORPHA:3289|UMLS:C0266039|SNOMEDCT:51744007|MESH:C536946|http://identifiers.org/omim/272700
MONDO:0034041	congenital axonal neuropathy with encephalopathy	biolink:Disease	mondo	Orphanet:538101	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0034041	A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia.	ORPHA:538101
MONDO:0010091	Cold-induced sweating syndrome 1	biolink:Disease	mondo	OMIM:272430|GARD:0001611|MESH:C536214|Orphanet:1545|SCTID:725097006|DOID:0080329|ICD10:G90.8	ordo_malformation_syndrome	CRISPONI/cold-induced sweating syndrome 1; CISS1|Crisponi/cold-induced sweating syndrome 1|Crisponi syndrome|muscle contractions, Tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death|cold-induced sweating syndrome 1|cold-induced sweating syndrome 1; CISS1|Sohar-Crisponi syndrome|cold-induced sweating syndrome type 1|CISS1	http://purl.obolibrary.org/obo/MONDO_0010091	Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.	http://identifiers.org/omim/601378|DOID:0080329|UMLS:C1832409|ORPHA:1545|MESH:C536214|http://identifiers.org/omim/272430|SNOMEDCT:725097006
MONDO:0010090	Summitt syndrome	biolink:Disease	mondo	UMLS:C1802405|ICD10:Q82.0|GARD:0000127|Orphanet:3210|MESH:C538142|SCTID:733606001|OMIM:272350	ordo_malformation_syndrome|gard_rare	recessive acrocephalosyndactyly with normal intelligence|Summitt's acrocephalosyndactyly|Summitt syndrome	http://purl.obolibrary.org/obo/MONDO_0010090	Summitt syndrome is an extremely rare disorder originally described in two brothers and characterized by mild to severe craniosynostosis and syndactyly, obesity, and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979. Summitt syndrome could be a variant of Carpenter syndrome.	ORPHA:3210|MESH:C538142|UMLS:C1802405|http://identifiers.org/omim/272350|SNOMEDCT:733606001
MONDO:0010093	syndesmodysplasic dwarfism	biolink:Disease	mondo	OMIM:272450|Orphanet:2654|MESH:C537869|UMLS:C2931647		syndesmodysplasic dwarfism	http://purl.obolibrary.org/obo/MONDO_0010093		ORPHA:2654|MESH:C537869|http://identifiers.org/omim/272450|UMLS:C2931647
MONDO:0010092	Filippi syndrome	biolink:Disease	mondo	OMIM:272440|ICD10:Q87.8|SCTID:720954000|Orphanet:3255|MESH:C538152|GARD:0000062|UMLS:C0795940	gard_rare|ordo_malformation_syndrome	Scott craniodigital syndrome with mental retardation|unusual facial appearance, microcephaly, growth and intellectual disability and syndactyly|syndactyly, type I, with microcephaly and intellectual disability|FLPIS|syndactyly type I with microcephaly and intellectual disability|syndactyly type I with microcephaly and mental retardation|unusual facial appearance, microcephaly, growth and mental retardation and syndactyly|type 1 syndactyly-microcephaly-intellectual disability syndrome|syndactyly, type I, with microcephaly and mental retardation|Filippi syndrome|FILIPPI syndrome; FLPIS|Scott craniodigital syndrome with intellectual disability	http://purl.obolibrary.org/obo/MONDO_0010092	Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.	ORPHA:3255|MESH:C538152|SNOMEDCT:720954000|UMLS:C0795940|http://identifiers.org/omim/272440
MONDO:0010095	ataxia-tapetoretinal degeneration syndrome	biolink:Disease	mondo	MESH:C564788|OMIM:272600|Orphanet:1178|UMLS:C1848932	ordo_disease	tapetoretinal degeneration with ataxia	http://purl.obolibrary.org/obo/MONDO_0010095		UMLS:C1848932|ORPHA:1178|http://identifiers.org/omim/272600|MESH:C564788
OIO:SubsetProperty	subset_property	biolink:OntologyClass	mondo				http://www.geneontology.org/formats/oboInOwl#SubsetProperty		
MONDO:0010094	spondylocarpotarsal synostosis syndrome	biolink:Disease	mondo	GARD:4974|DOID:0090116|ICD10:Q76.4|OMIM:272460|GARD:0004974|SCTID:702351004|Orphanet:3275|ICD9:758.89|UMLS:C1848934|MESH:C535780	gard_rare|ordo_malformation_syndrome	spondylocarpotarsal synostosis syndrome|spondylocarpotarsal syndrome|spondylocarpotarsal synostosis|Synspondylism|congenital scoliosis with unilateral unsegmented bar|spondylocarpotarsal synostosis syndrome; SCT|SCT|Synspondylism congenital|Synspondylism, congenital|scoliosis, congenital, with unilateral unsegmented Bar|congenital synspondylism|vertebral fusion with carpal coalition|scoliosis, congenital with unilateral unsegmented bar|SCT	http://purl.obolibrary.org/obo/MONDO_0010094	Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism.	UMLS:C1848934|ORPHA:3275|http://identifiers.org/omim/272460|DOID:0090116|MESH:C535780|SNOMEDCT:702351004
MONDO:0010097	Tatsumi factor deficiency	biolink:Disease	mondo	OMIM:272650|MESH:C564787|UMLS:C1848931		Tatsumi factor deficiency	http://purl.obolibrary.org/obo/MONDO_0010097		UMLS:C1848931|http://identifiers.org/omim/272650|MESH:C564787
MONDO:0010096	tardive dyskinesia (disease)	biolink:Disease	mondo	UMLS:C0686347|SCTID:102449007|HP:0040141|OMIM:272620		tardive dyskinesia	http://purl.obolibrary.org/obo/MONDO_0010096		SNOMEDCT:102449007|UMLS:C0686347|http://identifiers.org/omim/272620
MONDO:0024520	renal hypodysplasia/aplasia 3	biolink:Disease	mondo	OMIM:617805|UMLS:CN703737|EFO:0009137		RHDA3|renal hypodysplasia/aplasia 3; RHDA3	http://purl.obolibrary.org/obo/MONDO_0024520		UMLS:CN703737|http://identifiers.org/omim/617805
MONDO:0000553	uterine corpus endometrial carcinoma	biolink:Disease	mondo	DOID:0050939		endometrial carcinoma (disease) of body of uterus|body of uterus endometrial carcinoma (disease)	http://purl.obolibrary.org/obo/MONDO_0000553	A endometrial carcinoma (disease) that involves the body of uterus.	DOID:0050939
HGNC:21365	LYRM4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21365		
MONDO:0000552	breast lobular carcinoma	biolink:Disease	mondo	EFO:0008509|NCIT:C3771|ICDO:8520/3|DOID:0050938|SCTID:278054005		carcinoma of lobule of mammary gland|lobule of mammary gland carcinoma|lobular carcinoma|lobular breast carcinoma|lobular adenocarcinoma|lobular carcinoma of breast|lobular carcinoma of the breast	http://purl.obolibrary.org/obo/MONDO_0000552	An adenocarcinoma of the breast arising from the lobules. This is a relatively uncommon carcinoma, represents approximately 10% of the breast adenocarcinomas and is often bilateral or multifocal.	NCIT:C3771|DOID:0050938|SNOMEDCT:278054005
MONDO:0024522	amyloidosis, primary localized cutaneous, 1	biolink:Disease	mondo	UMLS:C0268398|OMIM:105250		amyloidosis, familial cutaneous lichen|lichen amyloidosis, familial|amyloidosis, primary cutaneous, 1|PCA|amyloidosis 9|PLCA1|amyloidosis, primary localized cutaneous, 1; PLCA1|primary cutaneous amyloidosis caused by mutation in OSMR|OSMR primary cutaneous amyloidosis	http://purl.obolibrary.org/obo/MONDO_0024522	Any primary cutaneous amyloidosis in which the cause of the disease is a mutation in the OSMR gene.	UMLS:C0268398|http://identifiers.org/omim/105250
MONDO:0000551	retroperitoneal neuroblastoma	biolink:Disease	mondo	DOID:0050937		neuroblastoma of retroperitoneal space|retroperitoneal space neuroblastoma	http://purl.obolibrary.org/obo/MONDO_0000551	A neuroblastoma that involves the retroperitoneal space.	DOID:0050937
MONDO:0000550	extra-adrenal sympathetic paraganglioma	biolink:Disease	mondo	EFO:0000489|NCIT:C48576|UMLS:C1257877|DOID:0050936		extra-adrenal pheochromocytoma|extra-adrenal chromaffin neoplasm|extra-adrenal Chromaffinoma|extra-adrenal sympathetic paraganglioma|extra-adrenal sympathetic Paraganglionic neoplasm|extraadrenal pheochromocytoma	http://purl.obolibrary.org/obo/MONDO_0000550	A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland. Clinical symptoms are related to secretion of catecholamines. Representative examples include the superior and inferior paraaortic and bladder paragangliomas.	NCIT:C48576|DOID:0050936|UMLS:C1257877
MONDO:0024521	aortic aneurysm, familial abdominal, 1	biolink:Disease	mondo	OMIM:100070		abdominal aortic aneurysm|aortic aneurysm, familial abdominal, 1; AAA1|AAA1|aneurysm, abdominal aortic	http://purl.obolibrary.org/obo/MONDO_0024521		http://identifiers.org/omim/100070
MONDO:0000557	hereditary ataxia	biolink:Disease	mondo	GARD:0010748|SCTID:763597000|DOID:0050951|ICD10:G11|GARD:0006614|MESH:C531684|Orphanet:183518|NCIT:C140268	ordo_group_of_disorders|gard_rare	rare hereditary ataxia|hereditary cerebellar ataxia|SCA	http://purl.obolibrary.org/obo/MONDO_0000557	Cerebellar ataxia that is transmitted from parent to child.	NCIT:C140268|ORPHA:183518|MESH:C531684|DOID:0050951|SNOMEDCT:763597000
MONDO:0024524	dyschromatosis universalis hereditaria 1	biolink:Disease	mondo	OMIM:127500|UMLS:C2675711|MESH:C567273		dyschromatosis universalis hereditaria 1; DUH1|DUH1	http://purl.obolibrary.org/obo/MONDO_0024524		http://identifiers.org/omim/127500|MESH:C567273|UMLS:C2675711
MONDO:0024523	aortic valve disease 1	biolink:Disease	mondo	OMIM:109730|DOID:0080333|UMLS:C3887892		aortic valve, calcification of|bicuspid aortic valve|aortic valve disease|NOTCH1 aortic valve disease|Notch1 aortic valve disease|AOVD1|aortic valve disease caused by mutation in NOTCH1|aortic valve disease caused by mutation in Notch1|aortic valve, bicuspid|aortic valve disease 1; AOVD1|aortic stenosis, calcific	http://purl.obolibrary.org/obo/MONDO_0024523	Any aortic valve disease in which the cause of the disease is a mutation in the NOTCH1 gene.	http://identifiers.org/omim/109730|DOID:0080333|UMLS:C3887892
MONDO:0000556	obsolete autosomal recessive cerebellar ataxia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000556		
MONDO:0024526	Zimmermann-Laband syndrome 1	biolink:Disease	mondo	OMIM:135500|UMLS:CN032818		fibromatosis, gingival, with abnormal fingers, fingernails, Nose, and ears, and splenomegaly|KCNH1 Zimmermann-Laband syndrome|ZLS1|Zimmermann-Laband syndrome 1; ZLS1|Zimmermann-Laband syndrome caused by mutation in KCNH1|Laband syndrome	http://purl.obolibrary.org/obo/MONDO_0024526	Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the KCNH1 gene.	UMLS:CN032818|http://identifiers.org/omim/135500
MONDO:0000555	obsolete autosomal recessive hypophosphatemic rickets	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000555		
MONDO:0024525	FRTS1	biolink:Disease	mondo	OMIM:134600		Fanconi renotubular syndrome 1; FRTS1|Fanconi renotubular syndrome|renal Fanconi syndrome|Luder-Sheldon syndrome|adult Fanconi syndrome|FRTS1|Fanconi syndrome without cystinosis	http://purl.obolibrary.org/obo/MONDO_0024525		http://identifiers.org/omim/134600
MONDO:0000554	endocervical adenocarcinoma	biolink:Disease	mondo	SCTID:123842006|DOID:0050940|UMLS:C4289591|NCIT:C127907|ONCOTREE:ECAD|UMLS:C1263762		endocervical adenocarcinoma, usual type|endocervix adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0000554	An adenocarcinoma that arises from the endocervix. It is the most common type of endocervical adenocarcinoma. The neoplastic epithelium shows a pseudostratified architecture and the malignant cells have enlarged, elongated, and hyperchromatic nuclei.	SNOMEDCT:123842006|DOID:0050940|NCIT:C127907|UMLS:C1263762|UMLS:C4289591
MONDO:0012539	Joubert syndrome 6	biolink:Disease	mondo	DOID:0111001|OMIM:610688|MESH:C537689|UMLS:C1853153	clingen	TMEM67 Joubert syndrome|Joubert syndrome 6|Joubert syndrome type 6|JBTS6|Joubert syndrome caused by mutation in TMEM67|Joubert syndrome 6; JBTS6	http://purl.obolibrary.org/obo/MONDO_0012539	Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM67 gene.	DOID:0111001|MESH:C537689|http://identifiers.org/omim/610688|UMLS:C1853153
MONDO:0012537	SHFLD2	biolink:Disease	mondo	UMLS:C1853156|OMIM:610685|MESH:C565199		SHFLD2|split-hand/foot malformation with long bone deficiency 2; SHFLD2|split-hand/foot malformation with long bone deficiency 2	http://purl.obolibrary.org/obo/MONDO_0012537		MESH:C565199|http://identifiers.org/omim/610685|UMLS:C1853156
MONDO:0012538	nemaline myopathy 7	biolink:Disease	mondo	OMIM:610687|DOID:0110934|UMLS:C1853154|MESH:C565198		CFL2 nemaline myopathy|nemaline myopathy 7; NEM7|nemaline myopathy type 7|nemaline myopathy 7, autosomal recessive|nemaline myopathy caused by mutation in CFL2|nemaline myopathy 7|NEM7	http://purl.obolibrary.org/obo/MONDO_0012538	Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene.	MESH:C565198|http://identifiers.org/omim/610687|UMLS:C1853154|DOID:0110934
MONDO:0012542	PSORS8	biolink:Disease	mondo	OMIM:610707|DOID:0111288		PSORS8|psoriasis 8, susceptibility to; PSORS8|psoriasis 8, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0012542		DOID:0111288|http://identifiers.org/omim/610707
HGNC:4056	G6PC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4056		
MONDO:0012543	optic atrophy 5	biolink:Disease	mondo	GARD:0010201|DOID:0111438|UMLS:C1853139|OMIM:610708|MESH:C537126		OPA5|optic atrophy 5; OPA5|optic atrophy 5	http://purl.obolibrary.org/obo/MONDO_0012543		MESH:C537126|DOID:0111438|http://identifiers.org/omim/610708|UMLS:C1853139
MONDO:0036511	childhood malignant kidney neoplasm	biolink:Disease	mondo	NCIT:C123907|UMLS:C4086162		childhood malignant renal neoplasm|pediatric kidney cancer|pediatric kidney cancer|childhood malignant kidney tumor|childhood malignant kidney neoplasm|childhood kidney cancer|kidney cancer of childhood|childhood malignant renal tumor	http://purl.obolibrary.org/obo/MONDO_0036511	A malignant neoplasm that affects the kidney and occurs in childhood.	NCIT:C123907|UMLS:C4086162
MONDO:0012540	age related macular degeneration 4	biolink:Disease	mondo	OMIM:610698|UMLS:C1853147|DOID:0110017|MESH:C565196		macular degeneration, age-related, 4; ARMD4|ARMD4|age-related macular degeneration caused by mutation in CFH|CFH age-related macular degeneration|age related macular degeneration type 4|macular degeneration, age-related, 4|macular Degeneration, age-related, type 4	http://purl.obolibrary.org/obo/MONDO_0012540	Any age-related macular degeneration in which the cause of the disease is a mutation in the CFH gene.	MESH:C565196|DOID:0110017|http://identifiers.org/omim/610698|UMLS:C1853147
MONDO:0012541	deafness with labyrinthine aplasia, microtia, and microdontia	biolink:Disease	mondo	UMLS:C1853144|SCTID:702360007|Orphanet:90024|OMIM:610706|ICD10:Q16.5|GARD:0010707|ICD9:759.89|MESH:C565195	ordo_malformation_syndrome	deafness congenital with inner ear agenesis microtia and microdontia|deafness with labyrinthine aplasia microtia and microdontia (LAMM)|congenital deafness with inner ear agenesis microtia and microdontia|deafness with Lamm|deafness, congenital, with labyrinthine aplasia, microtia, and microdontia|microdontia-type I microtia-deafness syndrome|LAMM syndrome|deafness, congenital, with inner EAR agenesis, microtia, and microdontia	http://purl.obolibrary.org/obo/MONDO_0012541	Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.	SNOMEDCT:702360007|ORPHA:90024|MESH:C548011|MESH:C565195|http://identifiers.org/omim/610706|UMLS:C1853144|UMLS:C2932664
HGNC:4053	ISG15	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4053		
MONDO:0012546	nephrotic syndrome, type 3	biolink:Disease	mondo	OMIM:610725|UMLS:C1853124|DOID:0080382		nephrotic syndrome, early-onset, type 3|NPHS3|nephrotic syndrome, type 3; NPHS3|nephrotic syndrome, type 3|nephrotic syndrome caused by mutation in PLCE1|PLCE1 nephrotic syndrome	http://purl.obolibrary.org/obo/MONDO_0012546	Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene.	DOID:0080382|http://identifiers.org/omim/610725|UMLS:C1853124
MONDO:0012547	Noonan syndrome 4	biolink:Disease	mondo	OMIM:610733|GARD:0010699|MESH:C548082|UMLS:C1853120|DOID:0060582	gard_rare	NS4|Noonan syndrome 4; NS4|Noonan syndrome type 4|Noonan syndrome caused by mutation in SOS1|SOS1 gene related Noonan syndrome|Noonan syndrome 4|SOS1 Noonan syndrome	http://purl.obolibrary.org/obo/MONDO_0012547	Any Noonan syndrome in which the cause of the disease is a mutation in the SOS1 gene.	MESH:C548082|http://identifiers.org/omim/610733|UMLS:C1853120|DOID:0060582
MONDO:0012544	brachydactyly-syndactyly syndrome	biolink:Disease	mondo	DOID:0050689|UMLS:C1853137|ICD10:Q73.8|OMIM:610713|Orphanet:93409|MESH:C565193	ordo_malformation_syndrome	Bdsd|brachydactyly-syndactyly syndrome; BDSD|brachydactyly-syndactyly, Zhao type|brachydactyly-syndactyly syndrome|brachydactyly-syndactyly-oligodactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0012544	Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.	MESH:C565193|DOID:0050689|http://identifiers.org/omim/610713|UMLS:C1853137|ORPHA:93409
MONDO:0012545	neutral lipid storage myopathy	biolink:Disease	mondo	SCTID:699315005|ICD10:E75.5|OMIM:610717|GARD:0010288|Orphanet:98908	ordo_disease	neutral lipid storage disease with myopathy; NLSDM|neutral lipid storage disease without ichthyosis|neutral lipid storage disease with myopathy|NLSDM|neutral lipid storage disease with myopathy without ichthyosis|triglyceride deposit cardiomyovasculopathy	http://purl.obolibrary.org/obo/MONDO_0012545		SNOMEDCT:699315005|ORPHA:98908|http://identifiers.org/omim/610717
MONDO:0024517	schwannomatosis 1	biolink:Disease	mondo	OMIM:162091|UMLS:C4048809		SCHWANNOMATOSIS 1; SWNTS1|neurilemmomatosis, congenital cutaneous|SWNTS1	http://purl.obolibrary.org/obo/MONDO_0024517		http://identifiers.org/omim/162091|UMLS:C4048809
MONDO:0024516	familial acne inversa	biolink:Disease	mondo	OMIMPS:142690		hereditary hidradenitis suppurativa|ACNINV|familial hidradenitis suppurativa	http://purl.obolibrary.org/obo/MONDO_0024516	An instance of hidradenitis suppurativa that is caused by an inherited modification of the individual's genome.	
MONDO:0000549	cervical neuroblastoma	biolink:Disease	mondo	DOID:0050935		neck neuroblastoma|neuroblastoma of neck	http://purl.obolibrary.org/obo/MONDO_0000549	A relatively uncommon neuroblastoma that is found in the neck.	DOID:0050935
MONDO:0024519	renal hypodysplasia/aplasia 1	biolink:Disease	mondo	GARD:0004791|OMIM:191830		RHDA1|renal agenesis|renal aplasia|renal adysplasia|Selig Benacerraf Greene syndrome|renal dysplasia, megalocystis, and sirenomelia|renal hypodysplasia/aplasia 1; RHDA1|hereditary renal aplasia	http://purl.obolibrary.org/obo/MONDO_0024519		http://identifiers.org/omim/191830
MONDO:0000548	ovarian clear cell cancer	biolink:Disease	mondo	NCIT:C40077|DOID:0050934|UMLS:C1518230		ovarian clear cell carcinoma|malignant ovarian clear cell neoplasm|clear-cell ovarian carcinoma|malignant ovarian clear cell tumor	http://purl.obolibrary.org/obo/MONDO_0000548	An invasive malignant neoplasm that arises from the ovary and is characterized by a predominance of clear and hobnail malignant epithelial cells.	NCIT:C40077|DOID:0050934|UMLS:C1518230
MONDO:0024518	reactive thrombocytosis	biolink:Disease	mondo	ICD9:286.9|UMLS:C0457506|SCTID:234500001		secondary thrombocytosis	http://purl.obolibrary.org/obo/MONDO_0024518	A thrombocytosis caused by an underlying condition, such as an infection.	SNOMEDCT:234500001|UMLS:C0457506
UBERON:0008188	tendon of biceps brachii	biolink:AnatomicalEntity	mondo			biceps brachii tendon|tendon of biceps brachii muscle	http://purl.obolibrary.org/obo/UBERON_0008188	A tendon that attaches_to a biceps brachii.	
MONDO:0000547	obsolete ovarian serous carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000547		
HGNC:4057	G6PD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4057		
MONDO:0000564	obsolete cerebellar ataxia, mental retardation and dysequlibrium syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000564		
MONDO:0000563	GRID2-related autosomal dominant spinocerebellar ataxia	biolink:Disease	mondo	DOID:0050988		GRID2-related spinocerebellar ataxia	http://purl.obolibrary.org/obo/MONDO_0000563		DOID:0050988
ENVO:00005800	desert sand	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_00005800	Sand which is part of a desert.	
MONDO:0000562	obsolete hypomyelinating leukoencephalopathy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000562		
MONDO:0000561	spinocerebellar ataxia type 16	biolink:Disease	mondo	Orphanet:98770|UMLS:CN229296|NCIT:C150250|DOID:0050966		SCAR16	http://purl.obolibrary.org/obo/MONDO_0000561	An autosomal recessive form of spinocerebellar ataxia caused by mutation(s) in the STUB1 gene, encoding E3 ubiquitin-protein ligase CHIP.	NCIT:C150250|ORPHA:98770|DOID:0050966|UMLS:CN229296
MONDO:0000568	autoimmune disease of central nervous system	biolink:Disease	mondo	DOID:0060004		central nervous system autoimmune disease|central nervous system hypersensitivity reaction type II disease	http://purl.obolibrary.org/obo/MONDO_0000568	A hypersensitivity reaction type II disease that involves the central nervous system.	DOID:0060004
MONDO:0024512	spondyloarthropathy, susceptibility to	biolink:Disease	mondo	UMLS:CN118840|OMIMPS:106300	predisposition	SPDA	http://purl.obolibrary.org/obo/MONDO_0024512		UMLS:CN118840
MONDO:0000567	obsolete C1 inhibitor deficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000567		
MONDO:0000566	obsolete substance withdrawal disorder	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000566		
MONDO:0000565	infective endocarditis	biolink:Disease	mondo	SCTID:233850007|Orphanet:570762|NCIT:C78265|ICD9:136.9|GARD:0006337|DOID:0060000	gard_rare	endocarditis, infective|endocarditis infective	http://purl.obolibrary.org/obo/MONDO_0000565	Infective endocarditis (IE) is an infection of the inner lining of the heart chambers (endocardium) and valves. This condition is sometimes called 'endocarditis,' although it is important to distinguish it from non-infective endocarditis. IE is caused bybacteria, fungi, or other germs invading the bloodstream and attaching to the heart. IE can damagethe heart and cause serious and sometimes fatal complications. It can develop quickly or slowly depending on what type of germ is causing it and whether there is an underlying heart problem. Common symptoms of IE are fever and other flu-like symptoms, but signs and symptoms can vary. It can also cause problems in many other parts of the body besides the heart. IE is typically treated with antibiotics for several weeks; some individuals may need heart surgery to repair or replace heart valves or remove infected heart tissue.	DOID:0060000|SNOMEDCT:233850007|ORPHA:570762|NCIT:C78265
MONDO:0012528	hypogonadotropic hypogonadism 4 with or without anosmia	biolink:Disease	mondo	ICD10:E23.0|UMLS:C3552343|DOID:0090077|OMIM:610628|GARD:0010772|MESH:C565696	gard_rare	PROK2 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism caused by mutation in PROK2|Kallman syndrome 4|hypogonadotropic hypogonadism 4 with or without anosmia|KAL4|hypogonadotropic hypogonadism 4 with or without anosmia; HH4|HH4|Kallmann syndrome 4	http://purl.obolibrary.org/obo/MONDO_0012528	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROK2 gene.	UMLS:C3552343|MESH:C565696|DOID:0090077|http://identifiers.org/omim/610628
MONDO:0012529	Diamond-Blackfan anemia 3	biolink:Disease	mondo	GARD:0010241|MESH:C536355|OMIM:610629|UMLS:C1857719	gard_rare	Diamond-Blackfan anemia 3; DBA3|RPS24 Diamond-Blackfan anemia|DBA3|Diamond-Blackfan Anemia type 3|Diamond-Blackfan anemia 3|Diamond-Blackfan anemia caused by mutation in RPS24|anemia Diamond-Blackfan 3	http://purl.obolibrary.org/obo/MONDO_0012529	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS24 gene.	UMLS:C1857719|MESH:C536355|http://identifiers.org/omim/610629
MONDO:0012526	hereditary angioedema type 3	biolink:Disease	mondo	Orphanet:100054|ICD10:D84.1|ICD9:277.6|MESH:D056828|OMIM:610618|SCTID:427167008	ordo_etiological_subtype	inherited estrogen-associated angioedema|HAE3|HAE-III|angioedema, hereditary, type III; HAE3|hereditary angioneurotic edema type 3|hereditary angioedema with normal C1 inhibitor activity|Hae with normal C1 inhibitor concentration and function|angioedema, hereditary, type 3|angioedema, hereditary, type III|inherited estrogen-dependent angioedema|estrogen-related Hae|F12 hereditary angioedema|inherited estrogen-dependent angioneurotic edema|HAE 3|estrogen-sensitive Hae|hereditary angioedema caused by mutation in F12|inherited estrogen-associated angioneurotic edema|Hae 3|angioneurotic edema, hereditary, with normal C1 inhibitor concentration and function	http://purl.obolibrary.org/obo/MONDO_0012526	Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.	SNOMEDCT:427167008|UMLS:C1960459|ORPHA:100054|UMLS:C1857728|MESH:D056828|http://identifiers.org/omim/610618
HP:0001735	Acute pancreatitis	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:197456007|UMLS:C0001339		Pancreatitis, acute|Acute pancreatic inflammation	http://purl.obolibrary.org/obo/HP_0001735	A acute form of pancreatitis.	
MONDO:0012527	cataract 11 multiple types	biolink:Disease	mondo	OMIM:610623|GARD:0010228|ICD10:Q12.0|DOID:0110249|MESH:C535344		PITX3 early-onset non-syndromic cataract|posterior polar cataract 4|cataract, posterior polar, 4|CTPP4|Posterior polar cataract, 4|Cpp4|CPP4|cataract 11 with microphthalmia and neurodevelopmental abnormalities|early-onset non-syndromic cataract caused by mutation in PITX3|cataract 11, multiple types|cataract 11, multiple types; CTRCT11|CTRCT11	http://purl.obolibrary.org/obo/MONDO_0012527	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the PITX3 gene.	MESH:C535344|DOID:0110249|http://identifiers.org/omim/610623
MONDO:0000560	obsolete spinocerebellar ataxia type 4	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000560		
MONDO:0012531	xeroderma pigmentosum group B	biolink:Disease	mondo	Orphanet:276252|UMLS:C0268136|GARD:0005625|OMIM:610651|ICD10:Q82.1|MESH:C562590|DOID:0110850|NCIT:C3966|SCTID:1073003	gard_rare	xeroderma pigmentosum, complementation group type B|ERCC3 xeroderma pigmentosum|xeroderma pigmentosum, complementation group B; XPB|XP, Group B|XPBC|xeroderma pigmentosum caused by mutation in ERCC3|XP-B|XPB/CS|xeroderma pigmentosum B/Cockayne syndrome|XP group B|xeroderma pigmentosum, complementation group B|xeroderma pigmentosum group type B|XPB|xeroderma pigmentosum, type 2	http://purl.obolibrary.org/obo/MONDO_0012531	Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC3 gene.	NCIT:C3966|SNOMEDCT:1073003|http://identifiers.org/omim/610651|DOID:0110850|ORPHA:276252|MESH:C562590|UMLS:C0268136
MONDO:0012532	hereditary hemorrhagic telangiectasia type 4	biolink:Disease	mondo	GARD:0010615|OMIM:610655|MESH:C565691	gard_rare	telangiectasia, hereditary hemorrhagic, type 4; HHT4|HHT4|telangiectasia, hereditary hemorrhagic, type 4	http://purl.obolibrary.org/obo/MONDO_0012532		MESH:C565691|http://identifiers.org/omim/610655
HGNC:4065	GAA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4065		
MONDO:0012530	palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome	biolink:Disease	mondo	OMIM:610644|Orphanet:85112|MESH:C567165|ICD10:Q56.0	ordo_disease	palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX SEX reversal|palmoplantar hyperkeratosis and true hermaphroditism|palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome	http://purl.obolibrary.org/obo/MONDO_0012530	Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown.	MESH:C567165|ORPHA:85112|http://identifiers.org/omim/610644
HP:0001732	Abnormality of the pancreas	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:3855007|UMLS:C4025751|UMLS:C0030286|MSH:D010182		Pancreatic disease|Abnormality of the pancreas	http://purl.obolibrary.org/obo/HP_0001732	An abnormality of the pancreas.	
MONDO:0012535	holoprosencephaly, recurrent infections, and monocytosis	biolink:Disease	mondo	UMLS:C1853187|MESH:C538328|GARD:0010055|OMIM:610680	gard_rare	holoprosencephaly, recurrent infections, and monocytosis	http://purl.obolibrary.org/obo/MONDO_0012535		MESH:C538328|http://identifiers.org/omim/610680|UMLS:C1853187
HP:0001733	Pancreatitis	biolink:PhenotypicFeature	mondo	MSH:D010195|SNOMEDCT_US:75694006|UMLS:C0030305		Pancreatic inflammation	http://purl.obolibrary.org/obo/HP_0001733	The presence of inflammation in the pancreas.	
MONDO:0012536	osteogenesis imperfecta type 7	biolink:Disease	mondo	SCTID:254111008|ICD10:Q78.0|UMLS:C1853162|OMIM:610682|DOID:0110337|GARD:0008701		osteogenesis imperfecta, type IIb, formerly|osteogenesis imperfecta caused by mutation in CRTAP|osteogenesis imperfecta, type VII; OI7|osteogenesis imperfecta, type IIb|osteogenesis imperfecta type VII|osteogenesis imperfecta, type VII|OI type 7|OI type VII|OI7|CRTAP osteogenesis imperfecta|osteogenesis imperfecta, type 7|OI, type 7	http://purl.obolibrary.org/obo/MONDO_0012536	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the CRTAP gene.	SNOMEDCT:254111008|DOID:0110337|http://identifiers.org/omim/610682|UMLS:C1853162
MONDO:0012533	AUTS7	biolink:Disease	mondo	OMIM:610676	predisposition	AUTS7|autism, susceptibility to, 7; AUTS7|autism, susceptibility to, 7	http://purl.obolibrary.org/obo/MONDO_0012533		http://identifiers.org/omim/610676
HGNC:4061	SLC37A4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4061		
MONDO:0012534	combined oxidative phosphorylation defect type 4	biolink:Disease	mondo	DOID:0111494|UMLS:C1857682|SCTID:766876004|Orphanet:254925|OMIM:610678|MESH:C565690|ICD10:E88.8	ordo_disease	combined oxidative phosphorylation deficiency 4; COXPD4|combined oxidative phosphorylation deficiency caused by mutation in TUFM|COXPD4|combined oxidative phosphorylation deficiency type 4|TUFM combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency 4	http://purl.obolibrary.org/obo/MONDO_0012534	Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.	UMLS:C1857682|DOID:0111494|MESH:C565690|http://identifiers.org/omim/610678|ORPHA:254925|SNOMEDCT:766876004
MONDO:0024506	Adams-Oliver syndrome 1	biolink:Disease	mondo	OMIM:100300|UMLS:CN028867		aplasia cutis congenita with terminal transverse limb defects|ARHGAP31 Adams-Oliver syndrome|absence defect of limbs, scalp, and skull|Adams-Oliver syndrome 1; AOS1|Adams-Oliver syndrome caused by mutation in ARHGAP31|AOS|congenital scalp defects with distal limb reduction anomalies|AOS1|aplasia cutis congenita, congenital heart defect, and frontonasal cysts	http://purl.obolibrary.org/obo/MONDO_0024506	Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the ARHGAP31 gene.	http://identifiers.org/omim/100300|UMLS:CN028867
MONDO:0024505	disorder by anatomical region	biolink:Disease	mondo	UMLS:C1290853|SCTID:123946008	metaclass	disease by body site|disorder of anatomical|disorder by body site|disorder of organism subdivision|disease of organism subdivision	http://purl.obolibrary.org/obo/MONDO_0024505	A broad grouping of diseases based on major body subdivisions.	UMLS:C1290853|SNOMEDCT:123946008
MONDO:0000559		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000559		
MONDO:0024508	epilepsy, hot water, 1	biolink:Disease	mondo	OMIM:613339		HWE1|epilepsy, hot water, 1; HWE1|bathing epilepsy|water immersion epilepsy|epilepsy, hot water, 1	http://purl.obolibrary.org/obo/MONDO_0024508		http://identifiers.org/omim/613339
MONDO:0000558	obsolete spastic ataxia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000558		
MONDO:0024507	aniridia 1	biolink:Disease	mondo	OMIM:106210|SCTID:253231007		AN1|aniridia 1; AN1|aniridia II, formerly|aniridia II|cataract, congenital, with late-onset corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0024507		SNOMEDCT:253231007|http://identifiers.org/omim/106210
MONDO:0000531	bronchus mucoepidermoid carcinoma	biolink:Disease	mondo	DOID:0050916		bronchus mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0000531	A mucoepidermoid carcinoma that involves the bronchus.	DOID:0050916
MONDO:0000530	rectum adenoma	biolink:Disease	mondo	DOID:0050915|UMLS:C1302652|NCIT:C5546|SCTID:399730005		rectum adenoma|adenoma of rectum|adenoma of the rectum|rectal adenoma	http://purl.obolibrary.org/obo/MONDO_0000530	An adenoma that arises from the rectum. The group of rectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis.	UMLS:C1302652|SNOMEDCT:399730005|DOID:0050915|NCIT:C5546
MONDO:0024500	duodenal neuroendocrine neoplasm	biolink:Disease	mondo			duodenum neuroendocrine tumor|duodenum neuroendocrine neoplasm|duodenum neuroendocrine tumor, well differentiated, low or intermediate grade|neuroendocrine neoplasm of duodenum|duodenum neuroendocrine tumor|duodenum NET	http://purl.obolibrary.org/obo/MONDO_0024500	A neuroendocrine neoplasm that involves the duodenum.	
MONDO:0024502	gallbladder neuroendocrine neoplasm	biolink:Disease	mondo	UMLS:C3273115|NCIT:C96917		gall bladder neuroendocrine tumor|gallbladder neuroendocrine neoplasm|gall bladder neuroendocrine neoplasm|gall bladder neuroendocrine tumor, well differentiated, low or intermediate grade|gall bladder neuroendocrine tumor|gall bladder NET|neuroendocrine neoplasm of gall bladder	http://purl.obolibrary.org/obo/MONDO_0024502	A neoplasm with neuroendocrine differentiation that arises from the gallbladder. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).	NCIT:C96917|UMLS:C3273115
MONDO:0000535	tonsil squamous cell carcinoma	biolink:Disease	mondo	DOID:0050920		tonsil squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0000535	A squamous cell carcinoma that involves the tonsil.	DOID:0050920
MONDO:0024501	appendix neuroendocrine neoplasm	biolink:Disease	mondo	NCIT:C60709		vermiform appendix NET|neuroendocrine neoplasm of vermiform appendix|appendix neuroendocrine neoplasm|vermiform appendix neuroendocrine tumor|vermiform appendix neuroendocrine neoplasm|vermiform appendix neuroendocrine tumor, well differentiated, low or intermediate grade|vermiform appendix neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0024501	A neoplasm with neuroendocrine differentiation that arises from the appendix. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).	NCIT:C60709
MONDO:0000534	trachea mucoepidermoid carcinoma	biolink:Disease	mondo	SCTID:707379000|UMLS:C3873401|DOID:0050919		trachea mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0000534	A mucoepidermoid carcinoma that involves the trachea.	SNOMEDCT:707379000|UMLS:C3873401|DOID:0050919
MONDO:0024504	enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor	biolink:Disease	mondo	Orphanet:506090|NCIT:C4446	ordo_disease	enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor|carcinoid neoplasm of the pancreas|serotonin-producing neuroendocrine tumor of pancreas|serotonin-producing PNET|serotonin-producing pancreatic neuroendocrine tumor|serotonin-producing tumor of pancreas|pancreatic serotonin producing tumor|pancreatic carcinoid tumor|pancreatic serotonin producing neoplasm|serotonin-producing tumor of the pancreas|carcinoid tumor of pancreas|EC cell, serotonin producing pancreatic neuroendocrine tumor|carcinoid tumor of the pancreas|serotonin-producing pancreatic NET|carcinoid neoplasm of pancreas|EC cell, serotonin producing pancreatic NET	http://purl.obolibrary.org/obo/MONDO_0024504	A usually slow-growing, grade 1 pancreatic neuroendocrine tumor that secretes serotonin. When it metastasizes to the liver, it produces the clinical symptoms of the carcinoid syndrome.	ORPHA:506090|NCIT:C4446
MONDO:0000533	obsolete vaginal carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000533		
MONDO:0024503	digestive system neuroendocrine neoplasm	biolink:Disease	mondo	MESH:C535650|Orphanet:100092|GARD:0002437|NCIT:C27721|UMLS:CN197371	gard_rare|ordo_group_of_disorders	carcinoid tumor|digestive system neuroendocrine tumor, well differentiated, low or intermediate grade|alimentary part of gastrointestinal system neuroendocrine neoplasm|gastroenteropancreatic endocrine tumor|GEP tumors|alimentary part of gastrointestinal system neuroendocrine tumor|carcinoid tumor of digestive system|gastroenteropancreatic neuroendocrine neoplasm|GEP-NET|alimentary part of gastrointestinal system neuroendocrine tumor, well differentiated, low or intermediate grade|alimentary part of gastrointestinal system NET|alimentary part of gastrointestinal system neuroendocrine tumor|digestive system neuroendocrine neoplasm|neuroendocrine neoplasm of alimentary part of gastrointestinal system|neuroendocrine neoplasm of digestive system|GEP-NEN|digestive system NET|gastrointestinal system neuroendocrine neoplasm|gastrointestinal neuroendocrine neoplasm|gastro-enteropancreatic neuroendocrine tumor|digestive system neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0024503	A neoplasm with neuroendocrine differentiation arising from the digestive system. It includes neuroendocrine tumors (well-differentiated endocrine tumors or carcinoid tumors and well differentiated endocrine carcinomas) and neuroendocrine carcinomas (poorly differentiated neuroendocrine carcinomas, small cell carcinomas, and large cell neuroendocrine carcinomas).	NCIT:C27721|UMLS:CN197371|ORPHA:100092|MESH:C535650
MONDO:0000532	lung combined type small cell adenocarcinoma	biolink:Disease	mondo	DOID:0050917			http://purl.obolibrary.org/obo/MONDO_0000532	A lung combined type small cell carcinoma that has material basis in epithelial tissue of glandular origin.	DOID:0050917
MONDO:0012517	atypical Gaucher disease due to saposin C deficiency	biolink:Disease	mondo	OMIM:610539|DOID:0110961|Orphanet:309252|UMLS:C1864651|ICD10:E75.2|MESH:C566435|GARD:0012503	ordo_clinical_subtype	atypical Gaucher's disease due to saposin c deficiency|atypical Gaucher disease due to saposin C deficiency|PSAP Gaucher disease|Gaucher disease, atypical, due to saposin C deficiency|Gaucher disease caused by mutation in PSAP|Gaucher disease, atypical	http://purl.obolibrary.org/obo/MONDO_0012517	Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene.	ORPHA:309252|DOID:0110961|UMLS:C1864651|MESH:C566435|http://identifiers.org/omim/610539
MONDO:0012518	congenital myasthenic syndrome 12	biolink:Disease	mondo	OMIM:610542|DOID:0110660		congenital myasthenia 12 with tubular aggregates|myasthenic syndrome, congenital, 12|GFPT1 congenital myasthenic syndromes with glycosylation defect|CMS12|congenital myasthenic syndromes with glycosylation defect caused by mutation in GFPT1|myasthenic syndrome, congenital, with tubular aggregates 1|congenital myasthenic syndrome type 12|myasthenic syndrome, congenital, 12; CMS12|myasthenic syndrome, congenital, type 12	http://purl.obolibrary.org/obo/MONDO_0012518	Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the GFPT1 gene.	DOID:0110660|http://identifiers.org/omim/610542
MONDO:0012515	GLC1M	biolink:Disease	mondo	OMIM:610535|UMLS:C1864653|MESH:C566436		glaucoma 1, open angle, M|GLC1M|glaucoma 1, open angle, M; GLC1M|JOAG1M	http://purl.obolibrary.org/obo/MONDO_0012515		UMLS:C1864653|MESH:C566436|http://identifiers.org/omim/610535
MONDO:0012516	mandibulofacial dysostosis-microcephaly syndrome	biolink:Disease	mondo	DOID:0080196|Orphanet:79113|UMLS:C1864652|ICD10:Q87.0|SCTID:711543008|GARD:0010056|OMIM:610536|MESH:C537405	ordo_malformation_syndrome	mandibulofacial dysostosis with microcephaly|MFDM|Growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome|Growth delay - intellectual disability - mandibulofacial dysostosis - microcephaly - cleft palate|mandibulofacial dysostosis, Guion-Almeida type; MFDGA|MFDM syndrome|Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate|mandibulofacial dysostosis, Guion-Almeida type|MFDGA|Growth and intellectual disability, mandibulofacial dysostosis, microcephaly, and cleft palate	http://purl.obolibrary.org/obo/MONDO_0012516	Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability.	UMLS:C1864652|SNOMEDCT:711543008|DOID:0080196|MESH:C537405|ORPHA:79113|http://identifiers.org/omim/610536
HP:0001702	Abnormal tricuspid valve morphology	biolink:PhenotypicFeature	mondo	UMLS:C4025753|EPCC:06.01.00		Abnormality of the tricuspid valve	http://purl.obolibrary.org/obo/HP_0001702	Any structural anomaly of the tricuspid valve.	
MONDO:0012519	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	biolink:Disease	mondo	OMIM:610543|UMLS:C1864648|GARD:0010754|Orphanet:353281|ICD10:Q87.2	gard_rare|ordo_clinical_subtype	Rsts deletion syndrome|16p13.3 deletion syndrome|Rubinstein-Taybi deletion syndrome|chromosome 16p13.3 deletion syndrome, proximal	http://purl.obolibrary.org/obo/MONDO_0012519	Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders.	http://identifiers.org/omim/610543|ORPHA:353281|UMLS:C1864648
NCBITaxon:1891714	Betapolyomavirus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1891714		
MONDO:0012520	insulin-resistance syndrome type A	biolink:Disease	mondo	EFO:1001503|MESH:C562710|GARD:0003008|NCIT:C131836|Orphanet:2297|ICD10:E13|OMIM:610549	ordo_disease	Iran, type a|diabetes mellitus, insulin-resistant, with acanthosis nigricans|diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a|insulin-resistant acanthosis nigricans, type A|insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans|insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism|type A insulin resistance syndrome	http://purl.obolibrary.org/obo/MONDO_0012520	Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.	MESH:C562710|ORPHA:2297|UMLS:C0342336|http://identifiers.org/omim/610549|NCIT:C131836
MONDO:0012521	herpes simplex encephalitis	biolink:Disease	mondo	NCIT:C84762|ICD10:G05.1*|GARD:0006649|MESH:D020803|Orphanet:1930|ICD10:B00.4+	ordo_disease|gard_rare	Herpes simplex meningo-encephalitis|HSV encephalitis|Simplexvirus infectious encephalitis|Simplexvirus caused infectious encephalitis|HSE|Herpes simplex virus encephalitis|HSVE|Herpes simplex neuroinvasion|herpetic encephalitis	http://purl.obolibrary.org/obo/MONDO_0012521	Herpes simplex virus encephalitis (HSE) is caused by the infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. HSV often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness.	NCIT:C84762|MESH:D020803|ORPHA:1930
HGNC:4076	GABRA2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4076		
HGNC:4075	GABRA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4075		
MONDO:0012524	corticosterone methyloxidase type 2 deficiency	biolink:Disease	mondo	UMLS:C3463917|OMIM:610600		hyperreninemic hypoaldosteronism, familial, 1|Cmo 2 deficiency|corticosterone methyloxidase type II deficiency|18-oxidase deficiency|aldosterone deficiency due to deficiency of steroid 18-oxidase|steroid 18-oxidase deficiency|aldosterone deficiency 2	http://purl.obolibrary.org/obo/MONDO_0012524		http://identifiers.org/omim/610600|UMLS:C3463917
HP:0001700	Myocardial necrosis	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:251061000|UMLS:C1442837			http://purl.obolibrary.org/obo/HP_0001700	Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction).	
MONDO:0012525	Leber congenital amaurosis 12	biolink:Disease	mondo	OMIM:610612|ICD10:H35.5|GARD:0010489|MESH:C565697|DOID:0110080	gard_rare	RD3 Leber congenital amaurosis|Leber congenital amaurosis caused by mutation in RD3|Leber congenital amaurosis 12; LCA12|LCA12|Leber congenital amaurosis 12|amaurosis congenita of Leber, type 12|Leber congenital amaurosis type 12	http://purl.obolibrary.org/obo/MONDO_0012525	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RD3 gene.	DOID:0110080|MESH:C565697|http://identifiers.org/omim/610612
MONDO:0012522	diabetes mellitus, transient neonatal, 3	biolink:Disease	mondo	SCTID:609581006|OMIM:610582		diabetes mellitus, type II, autosomal dominant|diabetes mellitus, transient neonatal, 3|diabetes mellitus, transient neonatal, type 3|transient neonatal diabetes mellitus (disease) caused by mutation in KCNJ11|Tndm3|KCNJ11 transient neonatal diabetes mellitus (disease)	http://purl.obolibrary.org/obo/MONDO_0012522	Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the KCNJ11 gene.	SNOMEDCT:609581006|http://identifiers.org/omim/610582
MONDO:0012523	retinitis pigmentosa 36	biolink:Disease	mondo	OMIM:610599|UMLS:C1864621|GARD:0010403|ICD10:H35.5|DOID:0110405|MESH:C566431	gard_rare	retinitis pigmentosa 36; RP36|RP 36|retinitis pigmentosa type 36|retinitis pigmentosa caused by mutation in PRCD|retinitis pigmentosa 36|PRCD retinitis pigmentosa|RP36	http://purl.obolibrary.org/obo/MONDO_0012523	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRCD gene.	UMLS:C1864621|MESH:C566431|http://identifiers.org/omim/610599|DOID:0110405
MONDO:0000528		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000528		
MONDO:0000527	colon adenoma	biolink:Disease	mondo	NCIT:C3864|DOID:0050912|UMLS:C0850572		adenoma of the colon|colonic adenoma|adenoma of colon|colon adenoma	http://purl.obolibrary.org/obo/MONDO_0000527	An adenoma that arises from the colon. The group of colonic adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis.	DOID:0050912|UMLS:C0850572|NCIT:C3864
MONDO:0000526	obsolete appendix carcinoid tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000526	A carcinoid tumor (disease) that involves the vermiform appendix.	
MONDO:0000525	cecum villous adenoma	biolink:Disease	mondo	UMLS:C1332869|DOID:0050910|NCIT:C5520|EFO:1000155		villous adenoma of the cecum|villous adenoma of cecum|caecum villous adenoma|cecal villous adenoma|cecum villous adenoma|caecum adenoma|cecum adenoma	http://purl.obolibrary.org/obo/MONDO_0000525	A neoplasm that arises from the glandular epithelium of the cecal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features.	NCIT:C5520|UMLS:C1332869|DOID:0050910
MONDO:0000529		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000529		
MONDO:0000542	obsolete duodenum adenoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000542		
MONDO:0000541	jejunal adenocarcinoma (disease)	biolink:Disease	mondo	UMLS:C4072935|HP:0030411|DOID:0050926		jejunal adenocarcinoma|jejunum adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0000541	A adenocarcinoma that involves the jejunum.	DOID:0050926|UMLS:C4072935
MONDO:0000540	small intestinal neuroendocrine tumor G1	biolink:Disease	mondo	SCTID:276818002|UMLS:C0349536|COHD:198100|NCIT:C4638|DOID:0050925		small intestine neuroendocrine neoplasm G1|carcinoid tumor of the small intestine|carcinoid tumor of small intestine|small intestine NET G1|small bowel carcinoid tumor|small intestinal NET G1|small intestine carcinoid tumor|small intestine carcinoid tumor (disease)|grade 1 neuroendocrine neoplasm of small intestine|carcinoid tumor of the small bowel|carcinoid tumor of small bowel|small intestine neuroendocrine tumor, well differentiated, low grade|small intestine carcinoid neuroendocrine tumor|small intestinal neuroendocrine tumor G1|small intestinal carcinoid tumor	http://purl.obolibrary.org/obo/MONDO_0000540	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	NCIT:C4638|DOID:0050925|UMLS:C0349536|SNOMEDCT:276818002
MONDO:0000546	obsolete parotid gland adenoid cystic carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000546		
MONDO:0000545	sublingual gland adenoid cystic carcinoma	biolink:Disease	mondo	DOID:0050930		sublingual gland adenoid cystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0000545	A adenoid cystic carcinoma that involves the sublingual gland.	DOID:0050930
MONDO:0000544	mucosal melanoma	biolink:Disease	mondo	UMLS:C3898222|NCIT:C114828|DOID:0050929		mucosal melanoma	http://purl.obolibrary.org/obo/MONDO_0000544	A melanoma that arises from a mucosal site.	UMLS:C3898222|DOID:0050929|NCIT:C114828
MONDO:0000543	ovarian melanoma	biolink:Disease	mondo	DOID:0050928		ovary metastatic melanoma|melanoma (disease) of ovary|ovary melanoma (disease)|metastatic melanoma of ovary	http://purl.obolibrary.org/obo/MONDO_0000543	A melanoma (disease) that involves the ovary.	DOID:0050928
MONDO:0012506	arrhythmogenic right ventricular dysplasia 11	biolink:Disease	mondo	ICD10:I42.8|MESH:C566471|OMIM:610476|DOID:0110082		arrhythmogenic right ventricular dysplasia, familial, type 11|arrhythmogenic right ventricular dysplasia type 11|ARVC11|arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair|familial arrhythmogenic right ventricular dysplasia 11|arrhythmogenic right ventricular dysplasia, familial, 11|ARVD11|DSC2 familial isolated arrhythmogenic right ventricular dysplasia|arrhythmogenic right ventricular dysplasia, familial, 11, and mild palmoplantar keratoderma with or without woolly hair|arrhythmogenic right ventricular dysplasia, familial, 11; ARVD11|arrhythmogenic right ventricular cardiomyopathy 11|familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in DSC2	http://purl.obolibrary.org/obo/MONDO_0012506	Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the DSC2 gene.	DOID:0110082|http://identifiers.org/omim/610476|MESH:C566471
HGNC:4081	GABRB1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4081		
MONDO:0012507	retinal cone dystrophy 4	biolink:Disease	mondo	GARD:0010650|UMLS:C1864849|MESH:C566470|OMIM:610478	gard_rare	retinal cone dystrophy 4; RCD4|retinal cone dystrophy type 4|RCD4|retinal cone dystrophy 4|CACNA2D4 cone dystrophy|cone dystrophy caused by mutation in CACNA2D4	http://purl.obolibrary.org/obo/MONDO_0012507	Any cone dystrophy in which the cause of the disease is a mutation in the CACNA2D4 gene.	http://identifiers.org/omim/610478|UMLS:C1864849|MESH:C566470
MONDO:0012504	camptodactyly-tall stature-scoliosis-hearing loss syndrome	biolink:Disease	mondo	ICD10:Q87.2|Orphanet:85164|OMIM:610474|DOID:0111160|UMLS:C1864852|MESH:C537975|GARD:0010012	ordo_disease|gard_rare	camptodactyly, tall stature, and hearing loss syndrome|CATSHLS|CATSHL syndrome|camptodactyly, tall stature, and hearing loss syndrome; CATSHLS	http://purl.obolibrary.org/obo/MONDO_0012504	Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.	UMLS:C1864852|ORPHA:85164|DOID:0111160|MESH:C537975|http://identifiers.org/omim/610474
MONDO:0012505	pigmented nodular adrenocortical disease, primary, 2	biolink:Disease	mondo	MESH:C566472|UMLS:C1864851|OMIM:610475		pigmented nodular adrenocortical disease, primary, 2; PPNAD2|pigmented nodular adrenocortical disease, primary, type 2|PDE11A primary pigmented nodular adrenocortical disease|primary pigmented nodular adrenocortical disease caused by mutation in PDE11A|PPNAD2|pigmented nodular adrenocortical disease, primary, 2|Cushing syndrome, adrenal, due to PPNAD2|pigmented micronodular adrenocortical disease, primary, 2	http://purl.obolibrary.org/obo/MONDO_0012505	Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE11A gene.	http://identifiers.org/omim/610475|UMLS:C1864851|MESH:C566472
HP:0001718	Mitral stenosis	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:79619009|MSH:D008946|ICD-10:Q23.2|EPCC:06.02.92|UMLS:C0026269|Fyler:1511		Mitral valve stenosis	http://purl.obolibrary.org/obo/HP_0001718	An abnormal narrowing of the orifice of the mitral valve.	
HGNC:21350	PDHX	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21350		
MONDO:0012508	agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome	biolink:Disease	mondo	OMIM:610483|GARD:0010011|SCTID:722281001|ICD10:Q87.0|MESH:C538055|Orphanet:83617|UMLS:C1864848	ordo_malformation_syndrome	agammaglobulinemia, microcephaly, and severe dermatitis	http://purl.obolibrary.org/obo/MONDO_0012508	Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation.	http://identifiers.org/omim/610483|ORPHA:83617|SNOMEDCT:722281001|UMLS:C1864848|MESH:C538055
MONDO:0012509	pigmented nodular adrenocortical disease, primary, 1	biolink:Disease	mondo	OMIM:610489|MESH:C566469		PRKAR1A primary pigmented nodular adrenocortical disease|primary pigmented nodular adrenocortical disease caused by mutation in PRKAR1A|pigmented micronodular adrenocortical disease, primary, 1|pigmented nodular adrenocortical disease, primary, type 1|PPNAD1|adrenocortical nodular dysplasia, primary|pigmented nodular adrenocortical disease, primary, 1; PPNAD1|pigmented nodular adrenocortical disease, primary, 1|Cushing syndrome, adrenal, due to PPNAD1	http://purl.obolibrary.org/obo/MONDO_0012509	Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKAR1A gene.	http://identifiers.org/omim/610489|MESH:C566469
MONDO:0012510	combined oxidative phosphorylation defect type 2	biolink:Disease	mondo	OMIM:610498|DOID:0111483|MESH:C566468|UMLS:C1864843|ICD10:E88.8|Orphanet:254920|SCTID:764943000	ordo_disease	corpus callosum, agenesis of, with Dysmorphism and fatal lactic acidosis|combined oxidative phosphorylation deficiency 2; COXPD2|COXPD2|combined oxidative phosphorylation deficiency type 2|MRPS16 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in MRPS16|combined oxidative phosphorylation deficiency 2	http://purl.obolibrary.org/obo/MONDO_0012510	Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.	UMLS:C1864843|MESH:C566468|SNOMEDCT:764943000|http://identifiers.org/omim/610498|DOID:0111483|ORPHA:254920
HGNC:4087	GABRG2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4087		
MONDO:0012513	maturity-onset diabetes of the young type 7	biolink:Disease	mondo	UMLS:C1864839|SCTID:609574004|MESH:C566466|GARD:0010661|OMIM:610508|DOID:0111106	gard_rare	maturity-onset diabetes of the young (disease) caused by mutation in KLF11|KLF11 maturity-onset diabetes of the young (disease)|MODY type 7|diabetes mellitus MODY type 7|maturity-onset diabetes of the young, type 7|MODY KLF11 related|maturity-onset diabetes of the young, type 7; MODY7|MODY7|type 7 maturity-onset diabetes of the young	http://purl.obolibrary.org/obo/MONDO_0012513	Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KLF11 gene.	SNOMEDCT:609574004|UMLS:C1864839|MESH:C566466|DOID:0111106|http://identifiers.org/omim/610508
HP:0001710	Conotruncal defect	biolink:PhenotypicFeature	mondo	UMLS:C1853238		Conotruncal heart defects	http://purl.obolibrary.org/obo/HP_0001710	A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle.	
MONDO:0012514	hypomyelinating leukodystrophy 5	biolink:Disease	mondo	MESH:C567166|ICD9:341.8|SCTID:702379005|GARD:0011980|OMIM:610532|Orphanet:85163|UMLS:C1864663|ICD10:G37.8|DOID:0060793	ordo_malformation_syndrome	hypomyelination - congenital cataract|HLD5|hypomyelination-congenital cataract syndrome|leukodystrophy, hypomyelinating, type 5|hypomyelination and congenital cataract|leukodystrophy caused by mutation in FAM126A|hypomyelination and congenital cataract: HCC|leukodystrophy, hypomyelinating, 5; HLD5|FAM126A leukodystrophy|hypomyelinating leukodystrophy type 5|leukodystrophy, hypomyelinating, 5	http://purl.obolibrary.org/obo/MONDO_0012514	Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.	DOID:0060793|UMLS:C1864663|MESH:C567166|ORPHA:85163|SNOMEDCT:702379005|http://identifiers.org/omim/610532
HGNC:4084	GABRD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4084		
MONDO:0012511	preterm premature rupture of the membranes	biolink:Disease	mondo	DOID:0111144|OMIM:610504|SCTID:312974005|MESH:C563032|NCIT:C92862		PPROM|preterm premature rupture of the membranes; PPROM|preterm premature rupture of the membranes	http://purl.obolibrary.org/obo/MONDO_0012511	A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation.	SNOMEDCT:312974005|DOID:0111144|NCIT:C92862|http://identifiers.org/omim/610504|MESH:C563032
HGNC:4083	GABRB3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4083		
MONDO:0012512	fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	biolink:Disease	mondo	DOID:0111486|SCTID:720951008|ICD10:E88.8|Orphanet:168566|MESH:C566467|OMIM:610505	ordo_disease	TSFM combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in TSFM|combined oxidative phosphorylation deficiency 3|fatal mitochondrial disease due to COXPD3|combined oxidative phosphorylation deficiency 3; COXPD3|COXPD3|encephalomyopathy, respiratory failure, and lactic acidosis|combined oxidative phosphorylation deficiency type 3|concentric cardiomyopathy, hypotonia, and lactic acidosis	http://purl.obolibrary.org/obo/MONDO_0012512	Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.	ORPHA:168566|MESH:C566467|SNOMEDCT:720951008|DOID:0111486|http://identifiers.org/omim/610505
MONDO:0000539	striated muscle rhabdoid tumor	biolink:Disease	mondo	DOID:0050924		striated muscle tissue rhabdoid tumor	http://purl.obolibrary.org/obo/MONDO_0000539	A rhabdoid tumor that involves the striated muscle tissue.	DOID:0050924
MONDO:0000538	obsolete spindle epithelial tumor with thymus-like differentiation tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000538		
MONDO:0000537	obsolete gastrointestinal carcinoma (disease)	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000537		
MONDO:0000536	pharyngeal squamous cell carcinoma	biolink:Disease	mondo	SCTID:408649007|EFO:1001965|NCIT:C102872|DOID:0050921|UMLS:C1319317		pharyngeal squamous cell carcinoma|pharyngeal squam. cell carcinoma|pharynx squamous cell carcinoma|pharyngeal throat squamous cell cancer|pharyngeal (including hypopharyngeal and oropharyngeal) squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0000536	A squamous cell carcinoma that arises from the pharynx.	UMLS:C1319317|SNOMEDCT:408649007|DOID:0050921|NCIT:C102872
MONDO:0000597	Munchausen by proxy	biolink:Disease	mondo	DOID:0060045|SCTID:95637005|GARD:0007117|MESH:D016735	gard_rare	Munchausen by proxy syndrome|Munchausen syndrome by proxy	http://purl.obolibrary.org/obo/MONDO_0000597	A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others.	DOID:0060045|SNOMEDCT:95637005|MESH:D016735
MONDO:0024564	cerebroretinal microangiopathy with calcifications and cysts 1	biolink:Disease	mondo	OMIM:612199		Coats plus syndrome caused by mutation in CTC1|cerebroretinal microangiopathy with calcifications and cysts 1; CRMCC1|Crmcc|CRMCC1|CTC1 Coats plus syndrome|Coats plus syndrome	http://purl.obolibrary.org/obo/MONDO_0024564	Any Coats plus syndrome in which the cause of the disease is a mutation in the CTC1 gene.	http://identifiers.org/omim/612199
MONDO:0024563	herpes simplex encephalitis, susceptibility to, 1	biolink:Disease	mondo	OMIM:610551	predisposition	herpes simplex encephalitis caused by mutation in UNC93B1|encephalopathy, acute, infection-induced, susceptibility to, 1|IIAE1|encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 1|encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 1; IIAE1|herpes simplex encephalitis, susceptibility to, 1|UNC93B1 herpes simplex encephalitis	http://purl.obolibrary.org/obo/MONDO_0024563	Any herpes simplex encephalitis in which the cause of the disease is a mutation in the UNC93B1 gene.	http://identifiers.org/omim/610551
MONDO:0000596	paraphilic disorder	biolink:Disease	mondo	DOID:0060044|SCTID:50299009|MESH:D010262		Sex deviation|paraphilia disorder|paraphilia|deviation, Sex|disorder of sexual preference|Deviations, Sex|Paraphilias|disorders, Paraphilic|paraphilic disorder|disorder, Paraphilic|Sex Deviations	http://purl.obolibrary.org/obo/MONDO_0000596	Disorders that include recurrent, intense sexually arousing fantasies, sexual urges, or behaviors generally involving nonhuman objects, suffering of oneself or partners, or children or other nonconsenting partners. (from DSM-V)	MESH:D010262|DOID:0060044|SNOMEDCT:50299009
MONDO:0000595	sexual and gender identity disorders	biolink:Disease	mondo	SCTID:231532002|NCIT:C92202|DOID:0060043		sexual disorder	http://purl.obolibrary.org/obo/MONDO_0000595	A category of psychiatric disorders characterized by a disturbance in sexual desire and in the psychophysiological changes that make up the sexual response cycle.	DOID:0060043|SNOMEDCT:231532002|NCIT:C92202
MONDO:0024566	febrile seizures, familial, 11	biolink:Disease	mondo	DOID:0111308|OMIM:614418|UMLS:C3280734		convulsions, familial febrile, 11|febrile seizures, familial, 11; FEB11|FEB11	http://purl.obolibrary.org/obo/MONDO_0024566		DOID:0111308|UMLS:C3280734|http://identifiers.org/omim/614418
MONDO:0000594	pervasive developmental disorder	biolink:Disease	mondo	SCTID:35919005|MESH:D002659|DOID:0060040|NCIT:C97179|ICD9:299.80		pervasive development disorder|pervasive development disorders|pervasive child development disorders	http://purl.obolibrary.org/obo/MONDO_0000594	A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions.	DOID:0060040|NCIT:C97179|MESH:D002659|SNOMEDCT:35919005
MONDO:0024565	ectodermal dysplasia-syndactyly syndrome 1	biolink:Disease	mondo	OMIM:613573|UMLS:C3150807		ectodermal dysplasia-syndactyly syndrome 1; EDSS1|NECTIN4 ectodermal dysplasia-syndactyly syndrome|EDSS1|ectodermal dysplasia-syndactyly syndrome caused by mutation in NECTIN4	http://purl.obolibrary.org/obo/MONDO_0024565	Any ectodermal dysplasia-syndactyly syndrome in which the cause of the disease is a mutation in the NECTIN4 gene.	UMLS:C3150807|http://identifiers.org/omim/613573
MONDO:0024568	infantile liver failure syndrome 1	biolink:Disease	mondo	UMLS:C3809522|GARD:0013114|OMIM:615438|Orphanet:370088|ICD10:K72.0	ordo_disease	infantile liver failure syndrome 1; ILFS1|infantile liver failure syndrome 1|ILFS1|infantile liver failure syndrome type 1|LARS infantile liver failure|Lars infantile liver failure|infantile liver failure caused by mutation in LARS|acute infantile liver failure - multisystemic involvement syndrome|infantile liver failure caused by mutation in Lars	http://purl.obolibrary.org/obo/MONDO_0024568	Any infantile liver failure in which the cause of the disease is a mutation in the LARS gene.	UMLS:C3809522|ORPHA:370088|http://identifiers.org/omim/615438
MONDO:0024567	hypotonia, infantile, with psychomotor retardation and characteristic facies 1	biolink:Disease	mondo	UMLS:C3809454|OMIM:615419		NALCN hypotonia, infantile, with psychomotor retardation and characteristic facies|IHPRF1|hypotonia, infantile, with psychomotor retardation and characteristic facies 1; IHPRF1|Ihprf|hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in NALCN	http://purl.obolibrary.org/obo/MONDO_0024567	Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene.	UMLS:C3809454|http://identifiers.org/omim/615419
MONDO:0000599	writing disorder	biolink:Disease	mondo	DOID:0060047			http://purl.obolibrary.org/obo/MONDO_0000599	A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition.	DOID:0060047
MONDO:0000598	aphasia	biolink:Disease	mondo	DOID:0060046|ICD10:R47.01|COHD:440424			http://purl.obolibrary.org/obo/MONDO_0000598	A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language.	DOID:0060046
MONDO:0024569	optic atrophy 8	biolink:Disease	mondo	OMIM:616648|DOID:0111439		optic atrophy 8; OPA8|OPA8	http://purl.obolibrary.org/obo/MONDO_0024569		DOID:0111439|http://identifiers.org/omim/616648
HGNC:23987	NDUFA12	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23987		
HGNC:4092	GAD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4092		
MONDO:0024560	PDA1	biolink:Disease	mondo	OMIM:607411		PDA1|patent ductus arteriosus 1; PDA1|PDA	http://purl.obolibrary.org/obo/MONDO_0024560		http://identifiers.org/omim/607411
UBERON:0035764	pulmonary lymph node	biolink:AnatomicalEntity	mondo			intrapulmonary lymph node|pulmonary node	http://purl.obolibrary.org/obo/UBERON_0035764		
MONDO:0000593	obsolete autoimmune disease of skin and connective tissue	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000593		
MONDO:0000592	specific developmental disorder	biolink:Disease	mondo	SCTID:10720004|ICD9:315.8|DOID:0060038		specific delays in development|specific developmental disorder	http://purl.obolibrary.org/obo/MONDO_0000592	A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.	DOID:0060038|SNOMEDCT:10720004
UBERON:0035763	cavity of cardiac chamber	biolink:AnatomicalEntity	mondo			heart lumen|heart cavity|cardiac chamber cavity	http://purl.obolibrary.org/obo/UBERON_0035763		
MONDO:0024562	sick sinus syndrome 1	biolink:Disease	mondo	OMIM:608567		sick sinus syndrome caused by mutation in SCN5A|sinus rhythm, congenital absence of|sinus node disease, familial, autosomal recessive|sick sinus syndrome 1; SSS1|sinus bradycardia syndrome, familial|SSS1|SCN5A sick sinus syndrome|sick sinus syndrome, congenital	http://purl.obolibrary.org/obo/MONDO_0024562	Any sick sinus syndrome in which the cause of the disease is a mutation in the SCN5A gene.	http://identifiers.org/omim/608567
MONDO:0000591	intrinsic cardiomyopathy	biolink:Disease	mondo	DOID:0060036		primary cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0000591	A cardiomyopathy that is due to abnormalities in heart muscle cells.	DOID:0060036
MONDO:0024561	vitelliform macular dystrophy 3	biolink:Disease	mondo	OMIM:608161		vitelliform macular dystrophy caused by mutation in PRPH2|vitelliform macular dystrophy, adult-onset|foveomacular dystrophy, adult-onset|PRPH2 vitelliform macular dystrophy|VMD3|macular dystrophy, vitelliform, 3; VMD3|foveomacular dystrophy, adult-onset, with or without choroidal neovascularization	http://purl.obolibrary.org/obo/MONDO_0024561	Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.	http://identifiers.org/omim/608161
MONDO:0000590	autoimmune disease of peripheral nervous system	biolink:Disease	mondo	DOID:0060033		peripheral nervous system hypersensitivity reaction type II disease|peripheral nervous system autoimmune disease	http://purl.obolibrary.org/obo/MONDO_0000590	A hypersensitivity reaction type II disease that involves the peripheral nervous system.	DOID:0060033
MONDO:0012586	coronary artery disease, autosomal dominant 2	biolink:Disease	mondo	UMLS:C1970440|MESH:C567045|OMIM:610947		ADCAD2|coronary artery disease, autosomal dominant 2; ADCAD2|LRP6 coronary artery disease|coronary artery disease, autosomal dominant type 2|coronary artery disease, autosomal dominant 2|coronary artery disease caused by mutation in LRP6	http://purl.obolibrary.org/obo/MONDO_0012586	Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene.	http://identifiers.org/omim/610947|MESH:C567045|UMLS:C1970440
HP:0001762	Talipes equinovarus	biolink:PhenotypicFeature	mondo	MEDDRA:10043106|SNOMEDCT_US:397932003|SNOMEDCT_US:249808002|MSH:D003025|Fyler:4171|UMLS:C0009081	hposlim_core	Foot, talipes equinovarus|Equinovarus|Pes equinovarus|Club feet|Club foot|Talipes varus|Clubbing of feet|Clubfoot|Clubfeet|Pes equinus	http://purl.obolibrary.org/obo/HP_0001762	Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.	
MONDO:0012587	hypertension, essential, susceptibility to, 7	biolink:Disease	mondo	OMIM:610948	predisposition	hypertension, essential, susceptibility to, 7|hypertension, essential, susceptibility to, type 7|Hyt7	http://purl.obolibrary.org/obo/MONDO_0012587		http://identifiers.org/omim/610948
MONDO:0012584	systemic lupus erythematosus, susceptibility to, 9	biolink:Disease	mondo	OMIM:610927	predisposition	CR2 systemic lupus erythematosus (disease)|systemic lupus erythematosus, susceptibility to, type 9|systemic lupus erythematosus (disease) caused by mutation in CR2|systemic lupus erythematosus, susceptibility to, 9; SLEB9|SLEB9|susceptibility to systemic lupus erythematosus 9|systemic lupus erythematosus, susceptibility to, 9	http://purl.obolibrary.org/obo/MONDO_0012584	Any systemic lupus erythematosus in which the cause of the disease is a mutation in the CR2 gene.	http://identifiers.org/omim/610927
MONDO:0012585	coronary heart disease, susceptibility to, 7	biolink:Disease	mondo	OMIM:610938	predisposition	coronary heart disease, susceptibility to, 7; CHDS7|coronary artery disease caused by mutation in CD36|susceptibility to coronary heart disease 7|coronary heart disease, susceptibility to, 7|CHDS7|CD36 coronary artery disease|coronary heart disease, susceptibility to, type 7	http://purl.obolibrary.org/obo/MONDO_0012585	Any coronary artery disease in which the cause of the disease is a mutation in the CD36 gene.	http://identifiers.org/omim/610938
HP:0001760	Abnormal foot morphology	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:229844004|UMLS:C0016506|MSH:D005530		Abnormality of the feet|Abnormality of the foot|Abnormal feet structure|Foot deformity|Foot deformities	http://purl.obolibrary.org/obo/HP_0001760	An abnormality of the skeleton of foot.	
MONDO:0012588	neuronal ceroid lipofuscinosis 7	biolink:Disease	mondo	DOID:0110722|GARD:0001220|MESH:C563989|OMIM:610951|Orphanet:228366|ICD10:E75.4	gard_rare|ordo_etiological_subtype	MFSD8 neuronal ceroid lipofuscinosis|CLN7 disease, late infantile|ceroid lipofuscinosis, neuronal, 7|CLN7 disease|CLN7|ceroid lipofuscinosis, neuronal, 7; CLN7|neuronal ceroid lipofuscinosis caused by mutation in MFSD8|ceroid lipofuscinosis, neuronal, type 7|neuronal ceroid lipofuscinosis type 7	http://purl.obolibrary.org/obo/MONDO_0012588	Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.	http://identifiers.org/omim/610951|DOID:0110722|MESH:C563989|ORPHA:228366
MONDO:0012589	Pitt-Hopkins syndrome	biolink:Disease	mondo	ICD9:758.5|DOID:0060488|NCIT:C129872|OMIM:610954|MESH:C537403|GARD:0004372|Orphanet:2896|UMLS:C1970431|ICD10:Q87.0|SCTID:702344008	gard_rare|ordo_malformation_syndrome	Pitt-Hopkins syndrome; PTHS|Pitt Hopkins syndrome|PTHS|Pitt-Hopkins syndrome|mental retardation, Syndromal, with intermittent hyperventilation|intellectual disability, Syndromal, with intermittent hyperventilation|encephalopathy, Severe epileptic, with autonomic dysfunction|intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea	http://purl.obolibrary.org/obo/MONDO_0012589	Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.	NCIT:C129872|http://identifiers.org/omim/610954|DOID:0060488|UMLS:C1970431|SNOMEDCT:702344008|ORPHA:2896|MESH:C537403
ENVO:01001286	slate dust	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001286	Dust which is primarily composed of slate particles.	
ENVO:01001285	talc dust	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001285	Dust which is primarily composed of hydrated magnesium silicate (talc) particles.	
HGNC:21317	DYM	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21317		
ENVO:01001288	kaolin dust	biolink:OntologyClass	mondo			kaolinite dust	http://purl.obolibrary.org/obo/ENVO_01001288	Dust which is primarily composed of kaolinite particles.	
MONDO:0012582	interstitial lung disease due to ABCA3 deficiency	biolink:Disease	mondo	MESH:C567046|OMIM:610921|UMLS:C1970456|Orphanet:440402|ICD10:J84.8	ordo_disease	SMDP3|interstitial lung disease due to ABCA3 deficiency|surfactant metabolism dysfunction, pulmonary, 3; SMDP3|surfactant metabolism dysfunction, pulmonary, type 3|pulmonary alveolar proteinosis, congenital, 3|surfactant metabolism dysfunction, pulmonary, 3|interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency	http://purl.obolibrary.org/obo/MONDO_0012582	Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea.	http://identifiers.org/omim/610921|UMLS:C1970456|MESH:C567046|ORPHA:440402
ENVO:01001282	silica dust	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001282	Dust which is composed primarily of slicon dioxide.	
MONDO:0012583	STHAG5	biolink:Disease	mondo	OMIM:610926|MESH:C565757|UMLS:C1858210		he-Zhao deficiency|hypodontia/oligodontia 5|tooth agenesis, selective, 5; STHAG5|tooth agenesis, selective, 5|STHAG5	http://purl.obolibrary.org/obo/MONDO_0012583		MESH:C565757|http://identifiers.org/omim/610926|UMLS:C1858210
MONDO:0012580	hereditary pulmonary alveolar proteinosis	biolink:Disease	mondo	Orphanet:264675|ICD10:J84.0|GARD:0004582|MESH:C535832|UMLS:C2931035|OMIMPS:265120|SCTID:707442002	gard_rare|ordo_disease	congenital PAP|sufactant metabolism dysfunction, pulmonary|inborn error of pulmonary surfactant metabolism|pulmonary alveolar proteinosis, congenital|hereditary pulmonary alveolar proteinosis|congenital pulmonary alveolar proteinosis	http://purl.obolibrary.org/obo/MONDO_0012580	Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure.	UMLS:C2931035|MESH:C535832|ORPHA:264675|SNOMEDCT:707442002
ENVO:01001284	barium dust	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001284	Dust which is primarily composed of barium particles.	
MONDO:0012581	osteogenesis imperfecta type 8	biolink:Disease	mondo	MESH:C536049|OMIM:610915|DOID:0110336|GARD:0010152|ICD10:Q78.0		OI8|OI, type 8|osteogenesis imperfecta, type 8|osteogenesis imperfecta, type VIII; OI8|osteogenesis imperfecta caused by mutation in P3H1|osteogenesis imperfecta type VIII|osteogenesis imperfecta, type VIII|P3H1 osteogenesis imperfecta|OI type VIII	http://purl.obolibrary.org/obo/MONDO_0012581	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the P3H1 gene.	http://identifiers.org/omim/610915|MESH:C536049|DOID:0110336
MONDO:0024553	myopathy, lactic acidosis, and sideroblastic anemia 1	biolink:Disease	mondo	OMIM:600462|UMLS:C1838103|DOID:0111185		PUS1 myopathy, lactic acidosis, and sideroblastic anemia|mitochondrial myopathy and sideroblastic anemia|myopathy, lactic acidosis, and sideroblastic anemia caused by mutation in PUS1|MLASA1|myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1	http://purl.obolibrary.org/obo/MONDO_0024553	Any myopathy, lactic acidosis, and sideroblastic anemia in which the cause of the disease is a mutation in the PUS1 gene.	DOID:0111185|UMLS:C1838103|http://identifiers.org/omim/600462
MONDO:0024552	linear skin defects with multiple congenital anomalies 1	biolink:Disease	mondo	OMIM:309801		microphthalmia, syndromic 7|Midas syndrome|microphthalmia with linear skin defects|HCCS microphthalmia with linear skin defects syndrome|LSDMCA1|microphthalmia, dermal aplasia, and sclerocornea|microphthalmia with linear skin defects syndrome caused by mutation in HCCS|linear skin defects with multiple congenital anomalies 1; LSDMCA1	http://purl.obolibrary.org/obo/MONDO_0024552	Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the HCCS gene.	UMLS:C0796070|http://identifiers.org/omim/309801
MONDO:0024555	megalencephalic leukoencephalopathy with subcortical cysts 1	biolink:Disease	mondo	OMIM:604004|DOID:0080316		megalencephalic leukoencephalopathy with subcortical cysts 1; MLC1|Lvm|VL|leukoencephalopathy with swelling and cysts|Van Der Knaap disease|Vacuolating megalencephalic leukoencephalopathy with subcortical cysts|MLC1	http://purl.obolibrary.org/obo/MONDO_0024555		DOID:0080316|http://identifiers.org/omim/604004|UMLS:C1858854
MONDO:0024554	D-2-hydroxyglutaric aciduria 1	biolink:Disease	mondo	UMLS:C3152055|DOID:0111351|OMIM:600721		D2HGDH D-2-hydroxyglutaric aciduria|D-2-hydroxyglutaric aciduria 1; D2HGA1|D2HGA1|D-2-hydroxyglutaric aciduria caused by mutation in D2HGDH	http://purl.obolibrary.org/obo/MONDO_0024554	Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the D2HGDH gene.	http://identifiers.org/omim/600721|DOID:0111351|UMLS:C3152055
MONDO:0024557	ataxia-telangiectasia-like disorder 1	biolink:Disease	mondo	OMIM:604391|UMLS:C1858391		Atld|ataxia - telangiectasia-like disorder caused by mutation in MRE11|MRE11 ataxia-telangiectasia-like disorder|ataxia-telangiectasia-like disorder 1; ATLD1|ataxia-telangiectasia-like disorder caused by mutation in MRE11|MRE11 ataxia - telangiectasia-like disorder|ATLD1	http://purl.obolibrary.org/obo/MONDO_0024557	Any ataxia-telangiectasia-like disorder in which the cause of the disease is a mutation in the MRE11 gene.	http://identifiers.org/omim/604391|UMLS:C1858391
MONDO:0024556	epilepsy, familial focal, with variable foci 1	biolink:Disease	mondo	NCIT:C161005|OMIM:604364|UMLS:C1858477		epilepsy, familial focal, with variable foci|FFEVF1|epilepsy, familial focal, with variable foci caused by mutation in DEPDC5|DEPDC5 epilepsy, familial focal, with variable foci|epilepsy, partial, with variable foci|epilepsy, familial focal, with variable foci 1; FFEVF1	http://purl.obolibrary.org/obo/MONDO_0024556	Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the DEPDC5 gene.	NCIT:C161005|http://identifiers.org/omim/604364|UMLS:C1858477
MONDO:0024559	AAT1	biolink:Disease	mondo	OMIM:607086		aortic dissection, familial|aortic aneurysm, familial thoracic 1; AAT1|aortic aneurysm, familial thoracic|AAT1|aneurysm, thoracic aortic|FAA1|Erdheim cystic medial necrosis of aorta|annuloaortic ectasia	http://purl.obolibrary.org/obo/MONDO_0024559		http://identifiers.org/omim/607086
MONDO:0024558	radioulnar synostosis with amegakaryocytic thrombocytopenia 1	biolink:Disease	mondo	OMIM:605432		RUSAT1|radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in HOXA11|HOXA11 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome|radioulnar synostosis with amegakaryocytic thrombocytopenia 1; RUSAT1|Rusat|thrombocytopenia, congenital, with radioulnar synostosis	http://purl.obolibrary.org/obo/MONDO_0024558	Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the HOXA11 gene.	http://identifiers.org/omim/605432
NCBITaxon:1129771	Leptotrichiaceae	organism taxon	mondo	GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_1129771		
MONDO:0024551	X-linked lymphoproliferative disease due to SH2D1A deficiency	biolink:Disease	mondo	Orphanet:538931|OMIM:308240	ordo_disease	Purtilo syndrome|Xlp|immunodeficiency 5|infectious mononucleosis, Severe, susceptibility to|immunodeficiency, X-linked progressive combined variable|lymphoproliferative syndrome, X-linked, 1; XLP1|EBV infection, Severe, susceptibility to|Epstein-Barr Virus infection, familial fatal|Lyp|lymphoproliferative disease, X-linked|XLP1|Duncan disease	http://purl.obolibrary.org/obo/MONDO_0024551	A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells.	ORPHA:538931|http://identifiers.org/omim/308240
MONDO:0024550	frontometaphyseal dysplasia 1	biolink:Disease	mondo	OMIM:305620|DOID:0111786		FMD1|FLNA frontometaphyseal dysplasia|FRONTOMETAPHYSEAL dysplasia 1; FMD1|frontometaphyseal dysplasia caused by mutation in FLNA|Fmd	http://purl.obolibrary.org/obo/MONDO_0024550	Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the FLNA gene.	http://identifiers.org/omim/305620|DOID:0111786|UMLS:C0265293
MONDO:0012575	branchiootorenal syndrome 2	biolink:Disease	mondo	DOID:0111424|UMLS:C1970479|OMIM:610896		branchiootorenal syndrome type 2|branchio-oto-renal syndrome caused by mutation in SIX5|branchiootorenal syndrome 2; BOR2|BOR2|branchiootorenal syndrome 2|SIX5 branchio-oto-renal syndrome	http://purl.obolibrary.org/obo/MONDO_0012575	Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene.	DOID:0111424|http://identifiers.org/omim/610896|UMLS:C1970479
MONDO:0012576	PSNP3	biolink:Disease	mondo	UMLS:C1970476|MESH:C567050|OMIM:610898		supranuclear palsy, progressive, 3|PSNP3|supranuclear palsy, progressive, 3; PSNP3	http://purl.obolibrary.org/obo/MONDO_0012576		http://identifiers.org/omim/610898|MESH:C567050|UMLS:C1970476
UBERON:0035767	intrapulmonary bronchus	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0035767		
MONDO:0012573	vesicoureteral reflux 2	biolink:Disease	mondo	UMLS:C1970483|MESH:C567053|OMIM:610878		vesicoureteral reflux type 2|vesicoureteral reflux 2; VUR2|vesicoureteral reflux (disease) caused by mutation in ROBO2|VUR2|vesicoureteral reflux 2|ROBO2 vesicoureteral reflux (disease)	http://purl.obolibrary.org/obo/MONDO_0012573	Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene.	http://identifiers.org/omim/610878|MESH:C567053|UMLS:C1970483
MONDO:0012574	Potocki-Lupski syndrome	biolink:Disease	mondo	ICD10:Q92.3|Orphanet:1713|UMLS:C2931246|OMIM:610883|GARD:0010145|NCIT:C124846|SCTID:734016004|DOID:0060853	ordo_malformation_syndrome	17p11.2 microduplication syndrome|Potocki-Lupski syndrome (dup(17)(p11.2p11.2))|Duplication 17p11.2 syndrome|trisomy 17p11.2|Potocki-Lupski syndrome; PTLS|17p11.2 Duplication syndrome|chromosome 17p11.2 duplication syndrome|chromosome 17P11.2 Duplication syndrome|Potocki-Lupski syndrome|PTLS	http://purl.obolibrary.org/obo/MONDO_0012574	17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioural problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.	ORPHA:1713|MESH:C536578|http://identifiers.org/omim/610883|SNOMEDCT:734016004|UMLS:C2931246|DOID:0060853|NCIT:C124846
MONDO:0012579	autoimmune pulmonary alveolar proteinosis	biolink:Disease	mondo	UMLS:C1970472|SCTID:707443007|MESH:C567049|ICD10:J84.0|GARD:0007499|OMIM:610910|Orphanet:747	ordo_disease|gard_rare	pulmonary alveolar lipoproteinosis acquired|iPAP|idiopathic pulmonary alveolar proteinosis|APAP|pulmonary alveolar proteinosis, autoimmune|pulmonary alveolar lipoproteinosis, acquired|PAP acquired|autoimmune PAP|pulmonary alveolar proteinosis autoimmune|idiopathic PAP|pulmonary alveolar proteinosis, acquired|pulmonary alveolar proteinosis acquired|acquired pulmonary alveolar proteinosis|PAP|Pap, acquired	http://purl.obolibrary.org/obo/MONDO_0012579	Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by the accumulation of a lipoproteinaceous substance in the distal air spaces which positively stains with periodic acid-Schiff (PAS).	ORPHA:747|http://identifiers.org/omim/610910|SNOMEDCT:707443007|UMLS:C1970472|MESH:C567049
MONDO:0012577	asthma-related traits, susceptibility to, 4	biolink:Disease	mondo	OMIM:610906	predisposition	asthma-related traits, susceptibility to, 4|asthma and allergic rhinitis, susceptibility to|ASRT4|asthma-related traits, susceptibility to, type 4	http://purl.obolibrary.org/obo/MONDO_0012577		http://identifiers.org/omim/610906
MONDO:0012578	AUTS13	biolink:Disease	mondo	OMIM:610908	predisposition	autism, susceptibility to, 13; AUTS13|autism, susceptibility to, 13|AUTS13	http://purl.obolibrary.org/obo/MONDO_0012578		http://identifiers.org/omim/610908
ENVO:01001275	solid layer	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001275	A layer which is primarily composed of some solid material, allowing for non-solid parts such as interstitial pockets of gas or liquid.	
MONDO:0024549	MCOPCB1	biolink:Disease	mondo	OMIM:300345		MCOPCB1|microphthalmia, isolated, with coloboma 1; MCOPCB1|microphthalmia, colobomatous, isolated 1	http://purl.obolibrary.org/obo/MONDO_0024549		http://identifiers.org/omim/300345
ENVO:01001276	water ice layer	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001276	A solid layer which is primarily composed of some water-based ice.	
MONDO:0012571	primary ciliary dyskinesia 6	biolink:Disease	mondo	MESH:C567057|OMIM:610852|ICD10:Q34.8|DOID:0110606|UMLS:C1970506		ciliary dyskinesia, primary, type 6|NME8 primary ciliary dyskinesia|primary ciliary dyskinesia caused by mutation in NME8|primary ciliary dyskinesia type 6|ciliary dyskinesia, primary, 6|CILD6|ciliary dyskinesia, primary, 6; CILD6	http://purl.obolibrary.org/obo/MONDO_0012571	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the NME8 gene.	http://identifiers.org/omim/610852|DOID:0110606|MESH:C567057|UMLS:C1970506
MONDO:0012572	Sakoda complex	biolink:Disease	mondo	OMIM:610871|MESH:C567055|UMLS:C1970485|GARD:0009695	gard_rare	Sakoda complex|Sakoda spectrum|sphenoethmoidal encephalomeningocele agenesis of the corpus callosum and cleft lip/palate|sphenoethmoidal encephalomeningocele, agenesis of the corpus callosum, and cleft Lip/palate	http://purl.obolibrary.org/obo/MONDO_0012572		http://identifiers.org/omim/610871|UMLS:C1970485|MESH:C567055
ENVO:01001273	liquid layer	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001273	A layer which is primarily composed of some liquid material.	
MONDO:0012570	body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	biolink:Disease	mondo	ICD10:D68.4|SCTID:717941005|Orphanet:91135|OMIM:610842|MESH:C563654|UMLS:C1835813|UMLS:C4049241	ordo_disease	PXE-like disorder with multiple coagulation Factor deficiency|pseudoxanthoma elasticum-like syndrome|pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency|PXE-like syndrome	http://purl.obolibrary.org/obo/MONDO_0012570	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs.	http://identifiers.org/omim/610842|MESH:C563654|UMLS:C4049241|UMLS:C1835813|ORPHA:91135|SNOMEDCT:717941005
MONDO:0024542	cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	biolink:Disease	mondo	UMLS:CN074243|OMIM:224050		cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 1|cerebellar hypoplasia, VLDLR-associated|cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1|cerebellar ataxia, congenital, and intellectual disability, autosomal recessive|VLDLR dysequilibrium syndrome|dysequilibrium syndrome|cerebellar ataxia, congenital, and mental retardation, autosomal recessive|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1; CAMRQ1|dysequilibrium syndrome caused by mutation in VLDLR|cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 1|cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1; CAMRQ1|CAMRQ1|cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 1	http://purl.obolibrary.org/obo/MONDO_0024542	Any dysequilibrium syndrome in which the cause of the disease is a mutation in the VLDLR gene.	http://identifiers.org/omim/224050|UMLS:CN074243
MONDO:0000575		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000575		
MONDO:0024541	trichohepatoenteric syndrome 1	biolink:Disease	mondo	DOID:0111415|OMIM:222470|UMLS:CN034858		diarrhea, fatal infantile, with trichorrhexis nodosa|diarrhea, syndromic|TRICHOHEPATOENTERIC syndrome 1; THES1|TTC37 tricho-hepato-enteric syndrome|The syndrome|THES1|tricho-hepato-enteric syndrome caused by mutation in TTC37	http://purl.obolibrary.org/obo/MONDO_0024541	Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the TTC37 gene.	DOID:0111415|http://identifiers.org/omim/222470|UMLS:CN034858
MONDO:0000574	obsolete CD45 deficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000574		
MONDO:0024544	Heimler syndrome 1	biolink:Disease	mondo	OMIM:234580|DOID:0080623		HEIMLER syndrome 1; HMLR1|hearing loss, sensorineural, with enamel hypoplasia and nail defects|HMLR1|peroxisome biogenesis disorder 1C	http://purl.obolibrary.org/obo/MONDO_0024544		DOID:0080623|http://identifiers.org/omim/234580
MONDO:0000573	recombinase activating gene 2 deficiency	biolink:Disease	mondo	DOID:0060012			http://purl.obolibrary.org/obo/MONDO_0000573	A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.	DOID:0060012
MONDO:0024543	brittle cornea syndrome 1	biolink:Disease	mondo	SCTID:31798004|OMIM:229200		ZNF469 brittle cornea syndrome|brittle cornea syndrome 1; BCS1|brittle cornea syndrome caused by mutation in ZNF469|corneal fragility, keratoglobus, blue sclerae, Joint hyperextensibility|Ehlers-Danlos syndrome, type Vib, formerly|dysgenesis Mesodermalis corneae Et sclerae|Ehlers-Danlos syndrome, type Vib|Fragilitas oculi with Joint hyperextensibility|BCS1	http://purl.obolibrary.org/obo/MONDO_0024543	Any brittle cornea syndrome in which the cause of the disease is a mutation in the ZNF469 gene.	SNOMEDCT:31798004|http://identifiers.org/omim/229200
MONDO:0000572	recombinase activating gene 1 deficiency	biolink:Disease	mondo	DOID:0060011			http://purl.obolibrary.org/obo/MONDO_0000572	A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.	DOID:0060011
MONDO:0024546	hypertrophic osteoarthropathy, primary, autosomal recessive, 1	biolink:Disease	mondo	OMIM:259100		HPGD primary hypertrophic osteoarthropathy|Cranioosteoarthropathy|pachydermoperiostosis, autosomal recessive|familial idiopathic osteoarthropathy of childhood|PHOAR1|Touraine-Solente-Gole syndrome|Pho, autosomal recessive|primary hypertrophic osteoarthropathy caused by mutation in HPGD|PDP, autosomal recessive|Currarino idiopathic osteoarthropathy|hypertrophic osteoarthropathy, primary, autosomal recessive, 1; PHOAR1	http://purl.obolibrary.org/obo/MONDO_0024546	Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the HPGD gene.	http://identifiers.org/omim/259100
MONDO:0000579	obsolete coronin-1A deficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000579		
MONDO:0024545	Miyoshi muscular dystrophy 1	biolink:Disease	mondo	OMIM:254130|DOID:0070199|UMLS:C1850808		DYSF Miyoshi myopathy|Miyoshi myopathy caused by mutation in DYSF|muscular dystrophy, distal, late-onset, autosomal recessive|MIYOSHI muscular dystrophy 1; MMD1|MMD1|Miyoshi myopathy	http://purl.obolibrary.org/obo/MONDO_0024545	Any Miyoshi myopathy in which the cause of the disease is a mutation in the DYSF gene.	UMLS:C1850808|http://identifiers.org/omim/254130|DOID:0070199
MONDO:0000578	obsolete CD3gamma deficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000578		
MONDO:0024548	peeling skin syndrome 1	biolink:Disease	mondo	UMLS:C3891449|OMIM:270300		deciduous skin|PSS|CDSN peeling skin syndrome|skin peeling, familial continuous generalized|peeling skin syndrome 1; PSS1|peeling skin syndrome caused by mutation in CDSN|keratolysis exfoliativa congenita|PSS1	http://purl.obolibrary.org/obo/MONDO_0024548	Any peeling skin syndrome in which the cause of the disease is a mutation in the CDSN gene.	UMLS:C3891449|http://identifiers.org/omim/270300
MONDO:0000577	congenital anemia	biolink:Disease	mondo	UMLS:C0158995|NCIT:C35228|SCTID:63565007		congenital anemia (disease)|congenital anemia	http://purl.obolibrary.org/obo/MONDO_0000577	Anemia, the cause of which is present at birth.	NCIT:C35228|SNOMEDCT:63565007|UMLS:C0158995
MONDO:0024547	pancreatic agenesis 1	biolink:Disease	mondo	OMIM:260370|UMLS:C3891828		pancreatic agenesis caused by mutation in PDX1|Pagen|PAGEN1|pancreatic agenesis 1; PAGEN1|pancreatic hypoplasia, congenital|PDX1 pancreatic agenesis	http://purl.obolibrary.org/obo/MONDO_0024547	Any pancreatic agenesis in which the cause of the disease is a mutation in the PDX1 gene.	http://identifiers.org/omim/260370|UMLS:C3891828
HGNC:21304	ADPRS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21304		
MONDO:0000576	obsolete CD3delta deficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000576		
MONDO:0012559	primary immunodeficiency syndrome due to p14 deficiency	biolink:Disease	mondo	OMIM:610798|SCTID:718717004|UMLS:C4305256|MESH:C563663|Orphanet:90023|UMLS:C1835829|ICD10:D82.8	ordo_disease	immunodeficiency due to defect in MAPBP-interacting PROTEIN|immunodeficiency due to defect in Mapbp-interacting Protein|primary immunodeficiency syndrome with short stature|primary immunodeficiency syndrome due to LAMTOR2 deficiency	http://purl.obolibrary.org/obo/MONDO_0012559	Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.	UMLS:C1835829|SNOMEDCT:718717004|UMLS:C4305256|ORPHA:90023|http://identifiers.org/omim/610798|MESH:C563663
MONDO:0000571	obsolete CD3zeta deficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000571		
MONDO:0000570	obsolete severe combined immunodeficiency due to artemis deficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000570		
MONDO:0024540	Jervell and Lange-Nielsen syndrome 1	biolink:Disease	mondo	UMLS:CN034131|OMIM:220400		prolonged QT interval in Ekg and sudden death|Jervell and Lange-Nielsen syndrome caused by mutation in KCNQ1|JLNS1|Cardioauditory syndrome of Jervell and Lange-Nielsen|Surdo-Cardiac syndrome|deafness, congenital, and functional heart disease|KCNQ1 Jervell and Lange-Nielsen syndrome|Jervell and Lange-Nielsen syndrome 1; JLNS1	http://purl.obolibrary.org/obo/MONDO_0024540	Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene.	UMLS:CN034131|http://identifiers.org/omim/220400
MONDO:0012564	Polyosteolysis-hyperostosis syndrome	biolink:Disease	mondo	OMIM:610830|GARD:0010456|UMLS:C1835818|MESH:C563658	gard_rare	Polyosteolysis-hyperostosis syndrome|Polyosteolysis/hyperostosis syndrome	http://purl.obolibrary.org/obo/MONDO_0012564		http://identifiers.org/omim/610830|MESH:C563658|UMLS:C1835818
MONDO:0012565	Fanconi anemia complementation group N	biolink:Disease	mondo	DOID:0111094|OMIM:610832|UMLS:C1835817|MESH:C563657		Fanconi anemia, complementation group N|Fanconi anemia complementation group type N|Fanconi Anemia, complementation group type N|FANCN|Fanconi anemia, complementation group N; FANCN|Fanconi anemia caused by mutation in PALB2|PALB2 Fanconi anemia	http://purl.obolibrary.org/obo/MONDO_0012565	Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene.	DOID:0111094|http://identifiers.org/omim/610832|MESH:C563657|UMLS:C1835817
MONDO:0012562	holoprosencephaly 7	biolink:Disease	mondo	MESH:C563660|OMIM:610828|DOID:0110876|UMLS:C1835820		PTCH1 holoprosencephaly|holoprosencephaly 7; HPE7|holoprosencephaly 7|holoprosencephaly caused by mutation in PTCH1|HPE7|holoprosencephaly type 7	http://purl.obolibrary.org/obo/MONDO_0012562	Any holoprosencephaly in which the cause of the disease is a mutation in the PTCH1 gene.	http://identifiers.org/omim/610828|DOID:0110876|MESH:C563660|UMLS:C1835820
MONDO:0012563	holoprosencephaly 9	biolink:Disease	mondo	OMIM:610829|DOID:0110873|UMLS:C1835819		pituitary anomalies with holoprosencephaly-like features|holoprosencephaly with microphthalmia and first branchial arch anomalies|holoprosencephaly 9; HPE9|holoprosencephaly 9|HPE9|holoprosencephaly with microphthalmia and first branchial Arch anomalies|holoprosencephaly caused by mutation in GLI2|holoprosencephaly type 9|pituitary anomalies with holoprosencephaly-like features|GLI2 holoprosencephaly	http://purl.obolibrary.org/obo/MONDO_0012563	Any holoprosencephaly in which the cause of the disease is a mutation in the GLI2 gene.	http://identifiers.org/omim/610829|DOID:0110873|UMLS:C1835819
HP:0001743	Abnormality of the spleen	biolink:PhenotypicFeature	mondo	UMLS:C4025749		Abnormality of the spleen	http://purl.obolibrary.org/obo/HP_0001743	An abnormality of the spleen.	
MONDO:0012568	OS4	biolink:Disease	mondo	UMLS:C1835815|OMIM:610839		osteoarthritis susceptibility 4; OS4|osteoarthritis susceptibility 4|OS4|osteoarthritis, generalized, without dysplasia	http://purl.obolibrary.org/obo/MONDO_0012568		http://identifiers.org/omim/610839|UMLS:C1835815
MONDO:0012569	MMVP3	biolink:Disease	mondo	MESH:C563655|OMIM:610840|UMLS:C1835814		myxomatous mitral valve prolapse 3|mitral valve prolapse, myxomatous 3|MVP3|mitral valve prolapse, myxomatous 3; MMVP3|MMVP3|mitral valve prolapse 3; MVP3	http://purl.obolibrary.org/obo/MONDO_0012569		http://identifiers.org/omim/610840|MESH:C563655|UMLS:C1835814
HP:0001744	Splenomegaly	biolink:PhenotypicFeature	mondo	MSH:D013163|SNOMEDCT_US:16294009|UMLS:C0038002		Increased spleen size	http://purl.obolibrary.org/obo/HP_0001744	Abnormal increased size of the spleen.	
MONDO:0012566	AUTS11	biolink:Disease	mondo	OMIM:610836	predisposition	AUTS11|autism, susceptibility to, 11|autism, susceptibility to, 11; AUTS11	http://purl.obolibrary.org/obo/MONDO_0012566		http://identifiers.org/omim/610836
MONDO:0012567	AUTS12	biolink:Disease	mondo	OMIM:610838	predisposition	AUTS12|autism, susceptibility to, 12|autism, susceptibility to, 12; AUTS12	http://purl.obolibrary.org/obo/MONDO_0012567		http://identifiers.org/omim/610838
MONDO:0024539	choroidal dystrophy, central areolar, 1	biolink:Disease	mondo	OMIM:215500		GUCY2D central areolar choroidal dystrophy|choroidal dystrophy, central areolar, 1; CACD1|choroidal dystrophy, central areolar|CACD1|central areolar choroidal dystrophy caused by mutation in GUCY2D|choroidal sclerosis	http://purl.obolibrary.org/obo/MONDO_0024539	Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.	http://identifiers.org/omim/215500
MONDO:0024538	basal ganglia calcification, idiopathic, 1	biolink:Disease	mondo	OMIM:213600|UMLS:C0393590|NCIT:C129973		Fahr disease, familial|basal ganglia calcification, idiopathic, 3, formerly|idiopathic basal ganglia calcification 1|striopallidodentate calcinosis, bilateral|basal ganglia calcification, idiopathic, 3|ferrocalcinosis, cerebrovascular|basal ganglia calcification, idiopathic, type 1|striopallidodentate calcinosis, autosomal dominant, adult-onset|IBGC1|IBGC1|basal ganglia calcification, idiopathic, 1; IBGC1|Fahr disease, familial, formerly|cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset	http://purl.obolibrary.org/obo/MONDO_0024538		UMLS:C0393590|NCIT:C129973|http://identifiers.org/omim/213600
MONDO:0000569	autoimmune disease of endocrine system	biolink:Disease	mondo	ICD9:279.49|SCTID:237822008|UMLS:C0342552|DOID:0060005		endocrine system hypersensitivity reaction type II disease|endocrine system autoimmune disease	http://purl.obolibrary.org/obo/MONDO_0000569	A hypersensitivity reaction type II disease that involves the endocrine system.	UMLS:C0342552|DOID:0060005|SNOMEDCT:237822008
MONDO:0012560	obsolete invasive pneumococcal disease, recurrent isolated, 1	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0012560		
MONDO:0012561	congenital anomalies of kidney and urinary tract 1, susceptibility to	biolink:Disease	mondo	UMLS:C1835826|MESH:C563661|OMIM:610805|DOID:0080206	predisposition	congenital anomalies of kidney and urinary tract 1, susceptibility to|renal hypodysplasia, nonsyndromic, 1|congenital anomaly of kidney and urinary tract caused by mutation in DSTYK|congenital anomalies of kidney and urinary tract 1|congenital anomalies of kidney and urinary tract 1, susceptibility to; CAKUT1|CAKUT1|congenital anomalies of kidney and urinary tract 1; CAKUT1|DSTYK congenital anomaly of kidney and urinary tract	http://purl.obolibrary.org/obo/MONDO_0012561	Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the DSTYK gene.	http://identifiers.org/omim/610805|MESH:C563661|UMLS:C1835826|DOID:0080206
MONDO:0024531	myopathy, tubular aggregate, 1	biolink:Disease	mondo	UMLS:C4011726|OMIM:160565		myopathy, tubular aggregate|tubular aggregate myopathy caused by mutation in STIM1|myopathy, tubular aggregate, 1; TAM1|STIM1 tubular aggregate myopathy|TAM1|tubular aggregate myopathy	http://purl.obolibrary.org/obo/MONDO_0024531	Any tubular aggregate myopathy in which the cause of the disease is a mutation in the STIM1 gene.	UMLS:C0410207|UMLS:C4011726|http://identifiers.org/omim/160565
MONDO:0000586	autoimmune disease of exocrine system	biolink:Disease	mondo	DOID:0060029		exocrine system hypersensitivity reaction type II disease|exocrine system autoimmune disease	http://purl.obolibrary.org/obo/MONDO_0000586	A hypersensitivity reaction type II disease that involves the exocrine system.	DOID:0060029
NCBITaxon:314295	Hominoidea	organism taxon	mondo	GC_ID:1		ape|apes	http://purl.obolibrary.org/obo/NCBITaxon_314295		
MONDO:0024530	Bethlem myopathy 1	biolink:Disease	mondo	UMLS:CN029274|OMIM:158810		muscular dystrophy, benign congenital|myopathy, benign congenital, with contractures|BTHLM1|Bethlem myopathy|Bethlem myopathy 1; BTHLM1	http://purl.obolibrary.org/obo/MONDO_0024530		http://identifiers.org/omim/158810|UMLS:CN029274
MONDO:0000585	obsolete Good syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000585		
MONDO:0024533	pulmonary hypertension, primary, 1	biolink:Disease	mondo	OMIM:178600		pulmonary hypertension, primary, Fenfluramine-associated|Pph1 with Hht|pulmonary hypertension, primary, 1; PPH1|pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia|primary pulmonary hypertension caused by mutation in BMPR2|PHT|pulmonary hypertension, primary, Dexfenfluramine-associated|PPH1|BMPR2 primary pulmonary hypertension|pulmonary arterial hypertension	http://purl.obolibrary.org/obo/MONDO_0024533	Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene.	http://identifiers.org/omim/178600
MONDO:0000584	B cell linker protein deficiency	biolink:Disease	mondo	DOID:0060027		BLNK deficiency|B-cell linker protein deficiency	http://purl.obolibrary.org/obo/MONDO_0000584	A hypobammaglobulinemia that is a B cell deficiency that has material basis in a mutation in a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation.	DOID:0060027
MONDO:0024532	otofaciocervical syndrome 1	biolink:Disease	mondo	UMLS:CN034490|OMIM:166780|UMLS:C3714941		EYA1 otofaciocervical syndrome|OFC|otofaciocervical syndrome 1; OTFCS|OFC1|otofaciocervical syndrome caused by mutation in EYA1|OTFCS	http://purl.obolibrary.org/obo/MONDO_0024532	Any otofaciocervical syndrome in which the cause of the disease is a mutation in the EYA1 gene.	UMLS:C3714941|http://identifiers.org/omim/166780|UMLS:CN034490
MONDO:0000583	immunoglobulin beta deficiency	biolink:Disease	mondo	DOID:0060026|UMLS:C3502055|MESH:C567200		IgB deficiency	http://purl.obolibrary.org/obo/MONDO_0000583		DOID:0060026|MESH:C567200|UMLS:C3502055
MONDO:0024535	Singleton-Merten syndrome 1	biolink:Disease	mondo	OMIM:182250|UMLS:C4225427		singleton-Merten dysplasia caused by mutation in IFIH1|SGMRT1|IFIH1 singleton-Merten dysplasia|singleton-Merten syndrome 1; SGMRT1	http://purl.obolibrary.org/obo/MONDO_0024535	Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene.	http://identifiers.org/omim/182250|UMLS:C4225427
UBERON:0008192	tendon of triceps brachii	biolink:AnatomicalEntity	mondo			triceps brachii tendon|triceps tendon|tendon of triceps brachii muscle	http://purl.obolibrary.org/obo/UBERON_0008192	A tendon that attaches_to a triceps brachii.	
MONDO:0024534	Dowling-Degos disease 1	biolink:Disease	mondo	OMIM:179850|UMLS:C3714534		Dowling-Degos disease caused by mutation in KRT5|reticular pigment anomaly of flexures|Dowling-Degos disease 1; DDD1|DDD|KRT5 Dowling-Degos disease|DDD1	http://purl.obolibrary.org/obo/MONDO_0024534	Any Dowling-Degos disease in which the cause of the disease is a mutation in the KRT5 gene.	UMLS:C3714534|http://identifiers.org/omim/179850
MONDO:0000589	autoimmune disease of musculoskeletal system	biolink:Disease	mondo	DOID:0060032		musculoskeletal system hypersensitivity reaction type II disease|musculoskeletal system autoimmune disease	http://purl.obolibrary.org/obo/MONDO_0000589	A hypersensitivity reaction type II disease that involves the musculoskeletal system.	DOID:0060032
UBERON:0008193	pneumatized bone	biolink:AnatomicalEntity	mondo			hollow bone|pneumatic bone|os pneumaticum	http://purl.obolibrary.org/obo/UBERON_0008193	A bone that is hollow or contains many air cells, such as the mastoid process of the temporal bone[TMD].	
HGNC:21316	ANKRD11	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21316		
MONDO:0024537	Brown-Vialetto-van Laere syndrome 1	biolink:Disease	mondo	OMIM:211530|UMLS:CN029849|NCIT:C133724		BVVLS1|pontobulbar palsy with deafness|SLC52A3 Brown-Vialetto-van Laere syndrome|bulbar palsy, progressive, with sensorineural deafness|BROWN-Vialetto-VAN Laere syndrome 1; BVVLS1|Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A3	http://purl.obolibrary.org/obo/MONDO_0024537	Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A3 gene.	UMLS:CN029849|NCIT:C133724|http://identifiers.org/omim/211530
MONDO:0000588	autoimmune disease of gastrointestinal tract	biolink:Disease	mondo	DOID:0060031		alimentary part of gastrointestinal system autoimmune disease|alimentary part of gastrointestinal system hypersensitivity reaction type II disease|autoimmune disease of alimentary part of gastrointestinal system	http://purl.obolibrary.org/obo/MONDO_0000588	A hypersensitivity reaction type II disease that involves the alimentary part of gastrointestinal system.	DOID:0060031
MONDO:0024536	glucocorticoid deficiency 1	biolink:Disease	mondo	DOID:0080621|UMLS:C1859974|OMIM:202200		adrenal unresponsiveness to ACTH|glucocorticoid deficiency 1; GCCD1|GCCD1|familial glucocorticoid deficiency caused by mutation in MC2R|ACTH resistance|familial glucocorticoid deficiency 1|MC2R familial glucocorticoid deficiency	http://purl.obolibrary.org/obo/MONDO_0024536	Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MC2R gene.	UMLS:C1859974|http://identifiers.org/omim/202200|DOID:0080621
MONDO:0000587	autoimmune disease of ear, nose and throat	biolink:Disease	mondo	DOID:0060030		autoimmune disease of eyes, ear, nose and throat|autoimmune otorhinolaryngologic disease	http://purl.obolibrary.org/obo/MONDO_0000587	An autoimmune form of otorhinolaryngologic disease.	DOID:0060030
MONDO:0012548	Kostmann syndrome	biolink:Disease	mondo	ICD10:D70|Orphanet:99749|UMLS:CN032247|OMIM:610738|GARD:0000302	ordo_disease	severe congenital neutropenia autosomal recessive 3|severe congenital neutropenia type 3|SCN3|neutropenia, severe congenital, 3, autosomal recessive; SCN3|Kostmann disease|neutropenia, severe congenital, 3, autosomal recessive|infantile agranulocytosis|agranulocytosis infantile|agranulocytosis, infantile	http://purl.obolibrary.org/obo/MONDO_0012548	Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients.	UMLS:CN032247|ORPHA:99749|http://identifiers.org/omim/610738
MONDO:0012549	autosomal recessive ataxia, Beauce type	biolink:Disease	mondo	UMLS:C1853116|OMIM:610743|Orphanet:88644|DOID:0111618|UMLS:C3683483|ICD10:G11.2|GARD:0012234	ordo_disease	spinocerebellar ataxia, autosomal recessive 8|cerebellar ataxia, autosomal recessive, type 1|ataxia, recessive, of Beauce|SYNE1-related autosomal recessive cerebellar ataxia|autosomal recessive cerebellar ataxia type 1|ARCA1|SCAR8|spinocerebellar ataxia, autosomal recessive 8; SCAR8|spinocerebellar ataxia, autosomal recessive type 8|spinocerebellar ataxia autosomal recessive 8|autosomal recessive spinocerebellar ataxia 8|autosomal recessive ataxia Beauce type|recessive ataxia of Beauce	http://purl.obolibrary.org/obo/MONDO_0012549	A rare disorder characterised by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations.	UMLS:C3683483|ORPHA:88644|DOID:0111618|http://identifiers.org/omim/610743|UMLS:C1853116
MONDO:0000582	obsolete immunoglobulin alpha deficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000582		
MONDO:0000581	obsolete lambda 5 deficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000581		
MONDO:0000580	obsolete CD40 ligand deficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000580		
NCBITaxon:314293	Simiiformes	organism taxon	mondo	GC_ID:1		Anthropoidea	http://purl.obolibrary.org/obo/NCBITaxon_314293		
MONDO:0012553	cerebrooculofacioskeletal syndrome 2	biolink:Disease	mondo	UMLS:C1853102|MESH:C565185|OMIM:610756		cerebrooculofacioskeletal syndrome type 2|ERCC2 COFS syndrome|cerebrooculofacioskeletal syndrome 2|cerebrooculofacioskeletal syndrome 2; COFS2|COFS2|COFS syndrome caused by mutation in ERCC2	http://purl.obolibrary.org/obo/MONDO_0012553	Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene.	MESH:C565185|http://identifiers.org/omim/610756|UMLS:C1853102
MONDO:0012554	cerebrooculofacioskeletal syndrome 4	biolink:Disease	mondo	UMLS:C1853100|NCIT:C173104|MESH:C565184|OMIM:610758		COFS syndrome caused by mutation in ERCC1|cerebrooculofacioskeletal syndrome 4; COFS4|cerebrooculofacioskeletal syndrome type 4|COFS4|ERCC1 COFS syndrome|cerebrooculofacioskeletal syndrome 4	http://purl.obolibrary.org/obo/MONDO_0012554	Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene.	MESH:C565184|NCIT:C173104|http://identifiers.org/omim/610758|UMLS:C1853100
HP:0001751	Vestibular dysfunction	biolink:PhenotypicFeature	mondo	UMLS:C1843865		Impaired vestibular function|Interictal vestibular dysfunction|Vestibular function defect	http://purl.obolibrary.org/obo/HP_0001751	An abnormality of the functioning of the vestibular apparatus.	
MONDO:0012551	AA2	biolink:Disease	mondo	OMIM:610753|MESH:C565186|UMLS:C1853104		AA2|alopecia areata 2|alopecia areata 2; AA2	http://purl.obolibrary.org/obo/MONDO_0012551		MESH:C565186|http://identifiers.org/omim/610753|UMLS:C1853104
MONDO:0012552	multiple endocrine neoplasia type 4	biolink:Disease	mondo	UMLS:C4274947|DOID:0080137|UMLS:C1970712|Orphanet:276152|OMIM:610755|MESH:C567059|SCTID:715907003|NCIT:C157449|ICD10:D44.8	ordo_disease	MEN4|CDKN1B multiple endocrine neoplasia|multiple endocrine neoplasia caused by mutation in CDKN1B|multiple endocrine neoplasia, type 4|multiple endocrine neoplasia, type IV|multiple endocrine neoplasia, type IV; MEN4	http://purl.obolibrary.org/obo/MONDO_0012552	Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN, an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors.	UMLS:C4274947|DOID:0080137|SNOMEDCT:715907003|NCIT:C157449|http://identifiers.org/omim/610755|ORPHA:276152|MESH:C567059|UMLS:C1970712
MONDO:0036501	refractory malignant neoplasm	biolink:Disease	mondo	NCIT:C120186|UMLS:C0677936		refractory cancer|refractory malignant neoplasm|resistant cancer|clinical resistance	http://purl.obolibrary.org/obo/MONDO_0036501	A malignant neoplasm that does not respond to treatment.	UMLS:C0677936|NCIT:C120186
MONDO:0012557	cardiomyopathy-hypotonia-lactic acidosis syndrome	biolink:Disease	mondo	UMLS:C4305259|SCTID:718713000|OMIM:610773|UMLS:C1835845|MESH:C563665|ICD10:G71.3|Orphanet:91130	ordo_disease	mitochondrial phosphate carrier deficiency|hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome|Mpcd	http://purl.obolibrary.org/obo/MONDO_0012557	Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.	ORPHA:91130|UMLS:C4305259|SNOMEDCT:718713000|http://identifiers.org/omim/610773|MESH:C563665|UMLS:C1835845
MONDO:0012558	epiphyseal dysplasia, Baumann type	biolink:Disease	mondo	OMIM:610797|UMLS:C1835830|MESH:C563664		epiphyseal dysplasia, Baumann type	http://purl.obolibrary.org/obo/MONDO_0012558		http://identifiers.org/omim/610797|MESH:C563664|UMLS:C1835830
HGNC:11998	TP53	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11998		
MONDO:0012555	Cornelia de Lange syndrome 3	biolink:Disease	mondo	DOID:0080507|UMLS:C1853099|OMIM:610759		Cornelia De Lange syndrome type 3|Cornelia de Lange syndrome caused by mutation in SMC3|Cornelia de Lange syndrome caused by mutation in Smc3|Cornelia DE Lange syndrome 3; CDLS3|Cornelia de Lange syndrome 3|CDLS3|SMC3 Cornelia de Lange syndrome|Smc3 Cornelia de Lange syndrome	http://purl.obolibrary.org/obo/MONDO_0012555	Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the SMC3 gene.	DOID:0080507|http://identifiers.org/omim/610759|UMLS:C1853099
MONDO:0012556	DK1-CDG	biolink:Disease	mondo	MESH:C563666|GARD:0012393|ICD10:E77.8|DOID:0080565|Orphanet:91131|SCTID:718712005|OMIM:610768	ordo_disease	dolichol kinase deficiency|CDG syndrome type Im|hypotonia and ichthyosis due to dolichol phosphate deficiency|congenital disorder of glycosylation type Im|DOLK-CDG (CDG-Im)|congenital disorder of glycosylation, type Im; CDG1M|Dk1 deficiency|CDG Im|congenital disorder of glycosylation type 1m|CDG-Im|CDGIm|CDG1M|carbohydrate deficient glycoprotein syndrome type Im|congenital disorder of glycosylation, type Im	http://purl.obolibrary.org/obo/MONDO_0012556	DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.	ORPHA:91131|DOID:0080565|http://identifiers.org/omim/610768|SNOMEDCT:718712005|MESH:C563666
MONDO:0024528	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	biolink:Disease	mondo	DOID:0111521|UMLS:C1834846|OMIM:157640		progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; PEOA1|autosomal dominant progressive external ophthalmoplegia caused by mutation in POLG|POLG autosomal dominant progressive external ophthalmoplegia|progressive external ophthalmoplegia, autosomal dominant 1|PEOA1	http://purl.obolibrary.org/obo/MONDO_0024528	Any autosomal dominant progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene.	http://identifiers.org/omim/157640|UMLS:C1834846|DOID:0111521
UBERON:0008196	muscle of pectoral girdle	biolink:AnatomicalEntity	mondo			muscle of shoulder girdle|pectoral girdle muscle	http://purl.obolibrary.org/obo/UBERON_0008196	Any muscle organ that is part of a pectoral girdle region.	
HGNC:21307	DSG4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21307		
MONDO:0024527	glomerulopathy with fibronectin deposits 1	biolink:Disease	mondo	OMIM:137950		glomerulopathy with giant fibrillar deposits|lobular glomerulopathy, familial|glomerulopathy with fibronectin deposits 1; GFND1|GFND1	http://purl.obolibrary.org/obo/MONDO_0024527		http://identifiers.org/omim/137950
ENVO:01001299	atmospheric zone	biolink:OntologyClass	mondo			atmospheric area	http://purl.obolibrary.org/obo/ENVO_01001299	An environmental zone which is part of an atmosphere.	
MONDO:0024529	MVP1	biolink:Disease	mondo	OMIM:157700|UMLS:CN074267|GARD:0003688		prolapsed mitral valve|mitral valve prolapse, familial, X-linked|floppy mitral valve|PMV|barlow syndrome|mitral valve prolapse, myxomatous 1|mitral valve prolapse, familial|MVP1|click-murmur syndrome|myxomatous valvular disease, familial|myxomatous mitral valve prolapse 1|mitral regurgitation, familial|mitral valve prolapse 1; MVP1	http://purl.obolibrary.org/obo/MONDO_0024529		http://identifiers.org/omim/157700|UMLS:CN074267
HGNC:21308	ELOVL5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21308		
ENVO:01001293	bush area	biolink:OntologyClass	mondo			the bush	http://purl.obolibrary.org/obo/ENVO_01001293	A vegetated area which has not been cleared or is sparsely settled, usually scrub-covered or forested	
MONDO:0012550	iris pattern	biolink:Disease	mondo	OMIM:610744|UMLS:C1853115		iris pattern	http://purl.obolibrary.org/obo/MONDO_0012550		http://identifiers.org/omim/610744|UMLS:C1853115
GO:0051355	proprioception involved in equilibrioception	biolink:OntologyClass	mondo			equilibrioception by proprioception|perception of orientation with respect to gravity by proprioception|proprioception during equilibrioception	http://purl.obolibrary.org/obo/GO_0051355	The series of events contributing to equilibrioception by which an organism senses the position, location, orientation, and movement of the body and its parts. Proprioception plays an important role in the ability of an organism to perceive its orientation with respect to gravity.	
GO:0051356	visual perception involved in equilibrioception	biolink:OntologyClass	mondo			visual perception during equilibrioception|equilibrioception by visual perception|perception of orientation with respect to gravity by visual perception	http://purl.obolibrary.org/obo/GO_0051356	The series of events during equilibrioception required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual input plays an important role in the ability of an organism to perceive its orientation with respect to gravity.	
GO:1903109	positive regulation of mitochondrial transcription	biolink:OntologyClass	mondo			positive regulation of mitochondrial transcription|upregulation of transcription from mitochondrial promoter|upregulation of mitochondrial transcription|up-regulation of transcription from mitochondrial promoter|up-regulation of mitochondrial transcription|up regulation of transcription from mitochondrial promoter|activation of transcription from mitochondrial promoter|positive regulation of transcription from mitochondrial promoter|up regulation of mitochondrial transcription|activation of mitochondrial transcription	http://purl.obolibrary.org/obo/GO_1903109	Any process that activates or increases the frequency, rate or extent of transcription occuring in the mitochondrion.	
GO:1903108	regulation of mitochondrial transcription	biolink:OntologyClass	mondo			regulation of transcription from mitochondrial promoter|regulation of mitochondrial transcription	http://purl.obolibrary.org/obo/GO_1903108	Any process that modulates the frequency, rate or extent of transcription occuring in the mitochondrion.	
HGNC:11957	MED12	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11957		
HGNC:6631	LMAN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6631		
UBERON:0011745	pulmonary valve leaflets	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011745	A cardiac valve leaflet that is part of a pulmonary valve.	
HGNC:11960	GIGYF2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11960		
HGNC:6636	LMNA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6636		
HGNC:6637	LMNB1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6637		
HGNC:6638	LMNB2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6638		
IAO:0000116	editor note	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/IAO_0000116		
GO:0051350	negative regulation of lyase activity	biolink:OntologyClass	mondo			down-regulation of lyase activity|lyase inhibitor|downregulation of lyase activity|down regulation of lyase activity|inhibition of lyase activity	http://purl.obolibrary.org/obo/GO_0051350	Any process that stops or reduces the rate of lyase activity, the catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond.	
IAO:0000115	definition	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/IAO_0000115		
GO:0051353	positive regulation of oxidoreductase activity	biolink:OntologyClass	mondo			oxidoreductase activator|up-regulation of oxidoreductase activity|up regulation of oxidoreductase activity|activation of oxidoreductase activity|ribonucleotide reductase activating enzyme activity|stimulation of oxidoreductase activity|upregulation of oxidoreductase activity	http://purl.obolibrary.org/obo/GO_0051353	Any process that activates or increases the frequency, rate or extent of oxidoreductase activity, the catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered.	
GO:0051354	negative regulation of oxidoreductase activity	biolink:OntologyClass	mondo			inhibition of oxidoreductase activity|downregulation of oxidoreductase activity|down-regulation of oxidoreductase activity|oxidoreductase inhibitor|down regulation of oxidoreductase activity	http://purl.obolibrary.org/obo/GO_0051354	Any process that stops or reduces the rate of oxidoreductase activity, the catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered.	
GO:0051351	positive regulation of ligase activity	biolink:OntologyClass	mondo			up-regulation of ligase activity|up regulation of ligase activity|ligase activator|activation of ligase activity|stimulation of ligase activity|upregulation of ligase activity	http://purl.obolibrary.org/obo/GO_0051351	Any process that activates or increases the frequency, rate or extent of ligase activity, the catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate.	
GO:0051352	negative regulation of ligase activity	biolink:OntologyClass	mondo			down-regulation of ligase activity|down regulation of ligase activity|ligase inhibitor|inhibition of ligase activity|downregulation of ligase activity	http://purl.obolibrary.org/obo/GO_0051352	Any process that stops or reduces the rate of ligase activity, the catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate.	
NCBITaxon:1891762	Human polyomavirus 1	organism taxon	mondo	GC_ID:1		Human polyomavirus BKV|Polyomavirus hominis 1|BK virus|human polyomavirus type BK BKV|BK virus BKV|BKV|polyomavirus BK|Human polyomavirus BK|Papovavirus BKV|BK polyomavirus|Human polyomavirus (type BK)	http://purl.obolibrary.org/obo/NCBITaxon_1891762		
UBERON:0011742	aortic valve leaflet	biolink:AnatomicalEntity	mondo			aortic valve leaflets	http://purl.obolibrary.org/obo/UBERON_0011742	A cardiac valve leaflet that is part of a aortic valve.	
UBERON:0011741	cardiac valve leaflet	biolink:AnatomicalEntity	mondo			valve leaflet	http://purl.obolibrary.org/obo/UBERON_0011741		
IAO:0000120	metadata complete	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/IAO_0000120	Class has all its metadata, but is either not guaranteed to be in its final location in the asserted IS_A hierarchy or refers to another class that is not complete.	
HGNC:11976	TNXB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11976		
HGNC:6649	LMOD3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6649		
IAO:0000125	pending final vetting	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/IAO_0000125	All definitions, placement in the asserted IS_A hierarchy and required minimal metadata are complete. The class is awaiting a final review by someone other than the term editor.	
IAO:0000123	metadata incomplete	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/IAO_0000123	Class is being worked on; however, the metadata (including definition) are not complete or sufficiently clear to the branch editors.	
IAO:0000124	uncurated	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/IAO_0000124	Nothing done yet beyond assigning a unique class ID and proposing a preferred term.	
IAO:0000121	organizational term	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/IAO_0000121	term created to ease viewing/sort terms for development purpose, and will not be included in a release	
IAO:0000122	ready for release	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/IAO_0000122	Class has undergone final review, is ready for use, and will be included in the next release. Any class lacking "ready_for_release" should be considered likely to change place in hierarchy, have its definition refined, or be obsoleted in the next release.  Those classes deemed "ready_for_release" will also derived from a chain of ancestor classes that are also "ready_for_release."	
HGNC:11937	CD70	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11937		
HGNC:11936	FASLG	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11936		
GO:2000765	regulation of cytoplasmic translation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000765	Any process that modulates the frequency, rate or extent of cytoplasmic translation.	
HGNC:11935	CD40LG	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11935		
GO:2000766	negative regulation of cytoplasmic translation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000766	Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic translation.	
HGNC:11934	TNFSF4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11934		
GO:2000767	positive regulation of cytoplasmic translation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000767	Any process that activates or increases the frequency, rate or extent of cytoplasmic translation.	
HGNC:6654	LMX1B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6654		
GO:1903131	mononuclear cell differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1903131	The process in which a relatively unspecialized cell acquires the specialized features of a mononuclear cell.	
HGNC:11943	TNNC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11943		
IAO:0000136	is about	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/IAO_0000136	A (currently) primitive relation that relates an information artifact to an entity.	
HGNC:11948	TNNT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11948		
HGNC:11947	TNNI3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11947		
HGNC:11946	TNNI2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11946		
HGNC:11949	TNNT2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11949		
HGNC:6664	LOX	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6664		
HGNC:6665	LOXL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6665		
HGNC:11950	TNNT3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11950		
HGNC:4006	FUCA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4006		
HGNC:6663	LORICRIN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6663		
NCBITaxon:2039	Tropheryma whipplei	organism taxon	mondo	PMID:1377787|PMID:10843039|PMID:11491348|GC_ID:11|PMID:10555351|PMID:8863438		Whipple's disease-associated bacterium|Tropheryma whippelii|Whipple's bacillus	http://purl.obolibrary.org/obo/NCBITaxon_2039		
NCBITaxon:2038	Tropheryma	organism taxon	mondo	PMID:1377787|PMID:11491348|GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_2038		
MONDO:0000513	bone ameloblastoma	biolink:Disease	mondo	DOID:0050895		bone tissue ameloblastoma|ameloblastoma of bone tissue	http://purl.obolibrary.org/obo/MONDO_0000513	A ameloblastoma that involves the bone tissue.	DOID:0050895
MONDO:0000512	obsolete ameloblastoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000512		
NCBITaxon:2037	Actinomycetales	organism taxon	mondo	PMID:19244447|PMID:28840812|GC_ID:11|PMID:10028252|PMID:16558735			http://purl.obolibrary.org/obo/NCBITaxon_2037		
MONDO:0000511	obsolete gallbladder adenoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000511		
MONDO:0000510	synucleinopathy	biolink:Disease	mondo	DOID:0050890		synucleinopathies|alpha synucleinopathies	http://purl.obolibrary.org/obo/MONDO_0000510	A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ]	DOID:0050890
HGNC:11919	CD40	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11919		
HGNC:11918	TNFRSF4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11918		
HGNC:11916	TNFRSF1A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11916		
HGNC:4012	FUT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4012		
HGNC:6677	LPL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6677		
HGNC:4010	FUS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4010		
MONDO:0012502	normophosphatemic familial tumoral calcinosis	biolink:Disease	mondo	MESH:C566473|DOID:0080170|GARD:0010878|ICD10:M11.2|Orphanet:306658|OMIM:610455	gard_rare|ordo_clinical_subtype	calcinosis, tumoral, with Normophosphatemia|tumoral calcinosis, normophosphatemic, familial; NFTC|NFTC|tumoral calcinosis, normophosphatemic, familial|familial normophosphatemic tumoral calcinosis	http://purl.obolibrary.org/obo/MONDO_0012502		ORPHA:306658|DOID:0080170|MESH:C566473|http://identifiers.org/omim/610455
HGNC:11922	CD27	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11922		
MONDO:0012503	thiopurine S-methyltransferase deficiency	biolink:Disease	mondo	OMIM:610460|DOID:0080172|SCTID:238012003|GARD:0005173|NCIT:C4389|Orphanet:3315|MESH:C536512		poor metabolism of thiopurines-1|rare inborn error of thiopurine S-methyltransferase activity|inborn error of thiopurine S-methyltransferase activity|rare inborn error of thiopurine S-methyltransferase activity|Thiopurines, poor metabolism of|THPM1|thiopurine methyltransferase deficiency|thiopurines, poor metabolism of, 1; THPM1|thiopurine S methyltranferase deficiency|TPMT deficiency|inborn thiopurine S-methyltransferase activity disorder|Thiopurines, poor metabolism of, 1|6-mercaptopurine sensitivity|thiopurine S-methyltransferase deficiency	http://purl.obolibrary.org/obo/MONDO_0012503	An acquired metabolic disease that is has its basis in the disruption of thiopurine S-methyltransferase activity.	SNOMEDCT:238012003|NCIT:C4389|ORPHA:3315|DOID:0080172|MESH:C536512|http://identifiers.org/omim/610460
MONDO:0012500	chilblain lupus 1	biolink:Disease	mondo	OMIM:610448		chilblain lupus 1|chilblain lupus 1; CHBL1|TREX1 chilblain lupus|chilblain lupus caused by mutation in TREX1|CHBL1|chilblain lupus type 1	http://purl.obolibrary.org/obo/MONDO_0012500	Any chilblain lupus in which the cause of the disease is a mutation in the TREX1 gene.	http://identifiers.org/omim/610448
HGNC:11920	FAS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11920		
MONDO:0012501	mutagen sensitivity	biolink:Disease	mondo	GARD:0008273|OMIM:610452	gard_rare	mutagen sensitivity	http://purl.obolibrary.org/obo/MONDO_0012501		http://identifiers.org/omim/610452
MONDO:0000506	obsolete Caroli disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000506		
MONDO:0000505	obsolete small cell neuroendocrine carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000505		
MONDO:0000504	obsolete follicular lymphoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000504		
MONDO:0000503	lung adenocarcinoma in situ	biolink:Disease	mondo	DOID:0050870|ONCOTREE:LAIS|NCIT:C8748|NCIT:C136486|UMLS:C0854971		stage 0 adenosquamous lung cancer|bronchioloalveolar carcinoma|bronchioalveolar carcinoma|lung adenosquamous cell carcinoma in situ|stage 0 adenosquamous cell carcinoma of lung|lung adenocarcinoma In situ|adenosquamous cell carcinoma in situ of lung|stage 0 adenosquamous cell carcinoma of the lung|adenosquamous cell carcinoma in situ of the lung|stage 0 adenosquamous lung carcinoma aJCC v7|stage 0 adenosquamous lung carcinoma aJCC v6 and v7|stage 0 adenosquamous lung carcinoma aJCC v6|in situ pulmonary adenocarcinoma|stage 0 adenosquamous cell lung carcinoma	http://purl.obolibrary.org/obo/MONDO_0000503	A localized non-invasive adenocarcinoma of the lung measuring 3 cm or less. It is characterized by a pure lepidic growth pattern and the lack of stromal, vascular, or pleural invasion.	DOID:0050870|NCIT:C8748|UMLS:C0854971|NCIT:C136486
HGNC:4017	FUT6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4017		
MONDO:0000509	non-syndromic intellectual disability	biolink:Disease	mondo	DOID:0050889		isolated intellectual disability|nonsyndromic intellectual disability	http://purl.obolibrary.org/obo/MONDO_0000509	An intellectual disability that is not part of a larger syndrome.	DOID:0050889
MONDO:0000508	syndromic intellectual disability	biolink:Disease	mondo	DOID:0050888|UMLS:CN225415		syndrome associated with intellectual disability|syndromic intellectual disability	http://purl.obolibrary.org/obo/MONDO_0000508	A intellectual disability that is part of a larger syndrome.	UMLS:CN225415|DOID:0050888
MONDO:0000507	inclusion body myopathy with Paget disease of bone and frontotemporal dementia	biolink:Disease	mondo	ICD10:G71.8|UMLS:C1833662|DOID:0050881|Orphanet:52430|GARD:0010899|OMIMPS:167320|SCTID:703544004|DC:0000545	ordo_disease	IBMPFD|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia|limb-girdle muscular dystrophy with Paget disease of bone|inclusion body myopathy with early-onset Paget disease and frontotemporal dementia|inclusion body myopathy/Paget disease/frontotemporal dementia|inclusion body myopathy with Paget's disease of bone and frontotemporal dementia|pagetoid neuroskeletal syndrome|pagetoid amyotrophic lateral sclerosis	http://purl.obolibrary.org/obo/MONDO_0000507	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy); early-onset Paget disease of bone, manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia, manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.	DOID:0050881|ORPHA:52430|SNOMEDCT:703544004|UMLS:C1833662
MONDO:0000520	parietal lobe ependymal tumor	biolink:Disease	mondo	NCIT:C131575|DOID:0050903|UMLS:C4330935		parietal lobe ependymal tumor|ependymal tumor of parietal lobe|parietal lobe ependymoma	http://purl.obolibrary.org/obo/MONDO_0000520	An ependymal tumor affecting the parietal lobe of the brain.	UMLS:C4330935|NCIT:C131575|DOID:0050903
NCBITaxon:2049	Actinomycetaceae	organism taxon	mondo	PMID:19244447|GC_ID:11|PMID:30186281|PMID:16558803			http://purl.obolibrary.org/obo/NCBITaxon_2049		
MONDO:0000524	mixed extragonadal germ cell cancer	biolink:Disease	mondo	DOID:0050907			http://purl.obolibrary.org/obo/MONDO_0000524	A mixed germ cell cancer that is located in areas of the body other than the ovary or testicle.	DOID:0050907
MONDO:0000523	obsolete conjunctival nevus	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000523		
MONDO:0000522	obsolete inflammatory myofibroblastic tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000522		
MONDO:0000521	salivary gland carcinoma	biolink:Disease	mondo	UMLS:C0948750|DOID:0050904|ONCOTREE:SACA|NCIT:C9272		carcinoma of the salivary gland|salivary gland cancer|salivary gland carcinoma|carcinoma of saliva-secreting gland|saliva-secreting gland carcinoma|salivary carcinoma|carcinoma of salivary gland	http://purl.obolibrary.org/obo/MONDO_0000521	A carcinoma that arises from the major or minor salivary glands. Representative examples include carcinoma ex pleomorphic adenoma, adenocarcinoma, adenoid cystic carcinoma, and mucoepidermoid carcinoma.	UMLS:C0948750|NCIT:C9272|DOID:0050904
HGNC:11926	TNFSF11	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11926		
UBERON:0011779	nerve of head region	biolink:AnatomicalEntity	mondo			head nerve|cephalic nerve	http://purl.obolibrary.org/obo/UBERON_0011779	A nerve that is part of a head.	
UBERON:0011777	nucleus of spinal cord	biolink:AnatomicalEntity	mondo			spinal cord nucleus	http://purl.obolibrary.org/obo/UBERON_0011777	A neural nucleus that is part of the spinal cord.	
CHEBI:16526	carbon dioxide	biolink:ChemicalSubstance	mondo			methanedione|dioxidocarbon|CO2|carbonic anhydride|E290|[CO2]|E-290|carbon dioxide|E 290|Carbon dioxide|CARBON DIOXIDE|R-744	http://purl.obolibrary.org/obo/CHEBI_16526	A one-carbon compound with formula CO2 in which the carbon is attached to each oxygen atom by a double bond. A colourless, odourless gas under normal conditions, it is produced during respiration by all animals, fungi and microorganisms that depend directly or indirectly on living or decaying plants for food.	
MONDO:0000517	brain stem medulloblastoma	biolink:Disease	mondo	DOID:0050899		medulloblastoma of brainstem|brainstem medulloblastoma	http://purl.obolibrary.org/obo/MONDO_0000517	A medulloblastoma that involves the brainstem.	DOID:0050899
MONDO:0000516	phalanx chondroma	biolink:Disease	mondo	DOID:0050898		phalanx chondroma	http://purl.obolibrary.org/obo/MONDO_0000516	A chondroma that involves the phalanx.	DOID:0050898
MONDO:0000515	bone chondrosarcoma	biolink:Disease	mondo	DOID:0050897		chondrosarcoma (disease) of bone tissue|bone tissue chondrosarcoma (disease)	http://purl.obolibrary.org/obo/MONDO_0000515	A chondrosarcoma (disease) that involves the bone tissue.	DOID:0050897
MONDO:0000514	bone squamous cell carcinoma	biolink:Disease	mondo	DOID:0050896		bone tissue squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0000514	A squamous cell carcinoma that involves the bone tissue.	DOID:0050896
HGNC:4026	FXYD2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4026		
MONDO:0000519	corpus callosum oligodendroglioma	biolink:Disease	mondo	DOID:0050901		corpus callosum oligodendroglioma|oligodendroglioma of corpus callosum	http://purl.obolibrary.org/obo/MONDO_0000519	A oligodendroglioma that involves the corpus callosum.	DOID:0050901
MONDO:0000518	sacrum chordoma	biolink:Disease	mondo	UMLS:C3164279|SCTID:447730004|DOID:0050900		fused sacrum chordoma (disease)|chordoma (disease) of fused sacrum	http://purl.obolibrary.org/obo/MONDO_0000518	A chordoma (disease) that involves the fused sacrum.	DOID:0050900|SNOMEDCT:447730004|UMLS:C3164279
HGNC:6685	LRAT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6685		
UBERON:0011775	vagus nerve nucleus	biolink:AnatomicalEntity	mondo			nucleus of Xth nerve|vagal nucleus|nucleus of vagus nerve|tenth cranial nerve nucleus|nucleus of vagal nerve|vagal X nucleus|nodosal nucleus|vagus nucleus|nucleus of vagal X nerve	http://purl.obolibrary.org/obo/UBERON_0011775	A cranial nerve nucleus that is associated with a vagus nerve.	
GO:1903169	regulation of calcium ion transmembrane transport	biolink:OntologyClass	mondo			regulation of transmembrane calcium transport|regulation of calcium ion membrane transport	http://purl.obolibrary.org/obo/GO_1903169	Any process that modulates the frequency, rate or extent of calcium ion transmembrane transport.	
GO:2000725	regulation of cardiac muscle cell differentiation	biolink:OntologyClass	mondo			regulation of cardiomyocyte differentiation|regulation of heart muscle cell differentiation	http://purl.obolibrary.org/obo/GO_2000725	Any process that modulates the frequency, rate or extent of cardiac muscle cell differentiation.	
GO:2000726	negative regulation of cardiac muscle cell differentiation	biolink:OntologyClass	mondo			negative regulation of heart muscle cell differentiation|negative regulation of cardiomyocyte differentiation	http://purl.obolibrary.org/obo/GO_2000726	Any process that stops, prevents or reduces the frequency, rate or extent of cardiac muscle cell differentiation.	
UBERON:0011773	upper jaw opening	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011773	An anatomical space that is part of a bone of upper jaw.	
UBERON:0011772	lower jaw opening	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011772	An anatomical space that is part of a bone of lower jaw.	
GO:2000727	positive regulation of cardiac muscle cell differentiation	biolink:OntologyClass	mondo			positive regulation of cardiomyocyte differentiation|positive regulation of heart muscle cell differentiation	http://purl.obolibrary.org/obo/GO_2000727	Any process that activates or increases the frequency, rate or extent of cardiac muscle cell differentiation.	
HGNC:6697	LRP5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6697		
UBERON:0011767	right recurrent laryngeal nerve	biolink:AnatomicalEntity	mondo			vagus X nerve right recurrent laryngeal branch|right recurrent laryngeal nerve|right recurrent laryngeal branch	http://purl.obolibrary.org/obo/UBERON_0011767		
HGNC:6698	LRP6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6698		
UBERON:0011766	left recurrent laryngeal nerve	biolink:AnatomicalEntity	mondo			left recurrent laryngeal branch|vagus X nerve left recurrent laryngeal branch|left recurrent laryngeal nerve	http://purl.obolibrary.org/obo/UBERON_0011766		
UBERON:0011769	cartilaginous projection	biolink:AnatomicalEntity	mondo			cartilaginous process|cartilage process	http://purl.obolibrary.org/obo/UBERON_0011769	Anatomical projection that is composed of cartilage tissue.	
GO:1903170	negative regulation of calcium ion transmembrane transport	biolink:OntologyClass	mondo			down regulation of transmembrane calcium transport|downregulation of calcium ion membrane transport|downregulation of transmembrane calcium transport|inhibition of transmembrane calcium transport|down-regulation of calcium ion transmembrane transport|down regulation of calcium ion membrane transport|down regulation of calcium ion transmembrane transport|inhibition of calcium ion membrane transport|negative regulation of calcium ion membrane transport|down-regulation of calcium ion membrane transport|inhibition of calcium ion transmembrane transport|downregulation of calcium ion transmembrane transport|down-regulation of transmembrane calcium transport|negative regulation of transmembrane calcium transport	http://purl.obolibrary.org/obo/GO_1903170	Any process that stops, prevents or reduces the frequency, rate or extent of calcium ion transmembrane transport.	
HGNC:6692	LRP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6692		
HGNC:6694	LRP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6694		
HGNC:4036	FYB1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4036		
HGNC:6696	LRP4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6696		
HGNC:4035	ACKR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4035		
HGNC:11909	TNFRSF11B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11909		
MONDO:0000502	villous adenoma	biolink:Disease	mondo	MESH:D018253|UMLS:C0206674|ICDO:8261/0|DOID:0050869|NCIT:C7399		villous adenoma	http://purl.obolibrary.org/obo/MONDO_0000502	An epithelial neoplasm morphologically characterized by the presence of a villous architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features. It may also arise in the urinary bladder, urethra, and vagina.	NCIT:C7399|DOID:0050869|UMLS:C0206674|MESH:D018253
MONDO:0000501	obsolete Jensen syndrome	biolink:Disease	mondo	GARD:0003046|UMLS:C1839564|DOID:0050867|MESH:C537568	gard_rare	nerve deafness optic nerve atrophy, and dementia|syndrome of opticoacoustic nerve atrophy with dementia|deafness-opticoacoustic nerve atrophy-dementia syndrome|Opticoacustic nerve atrophy with dementia|Jensen syndrome|opticoacoustic nerve atrophy with dementia	http://purl.obolibrary.org/obo/MONDO_0000501		DOID:0050867|MESH:C537568|UMLS:C1839564
MONDO:0000500	tongue squamous cell carcinoma	biolink:Disease	mondo	NCIT:C4648|SCTID:276952000|DOID:0050865|UMLS:C0349566|EFO:1000055		tongue scc|squamous cell carcinoma of tongue|squamous cell carcinoma of the tongue|scc of tongue|scc of the tongue|tongue squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0000500	A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis.	DOID:0050865|UMLS:C0349566|NCIT:C4648|SNOMEDCT:276952000
HGNC:11908	TNFRSF11A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11908		
GO:2000736	regulation of stem cell differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000736	Any process that modulates the frequency, rate or extent of stem cell differentiation.	
GO:2000737	negative regulation of stem cell differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000737	Any process that stops, prevents or reduces the frequency, rate or extent of stem cell differentiation.	
HGNC:11905	TNFRSF10B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/11905		
GO:2000738	positive regulation of stem cell differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000738	Any process that activates or increases the frequency, rate or extent of stem cell differentiation.	
UBERON:0011757	differentiated genital tubercle	biolink:AnatomicalEntity	mondo			primordial phallus|phallus primordialis|phallus	http://purl.obolibrary.org/obo/UBERON_0011757	.	
HGNC:4044	FZD6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4044		
UBERON:0011756	male genital swelling	biolink:AnatomicalEntity	mondo			scrotal bulge|labioscrotal swelling of male|scrotal primordium	http://purl.obolibrary.org/obo/UBERON_0011756	A genital swelling that is part of a male reproductive organ.	
UBERON:0011755	female labial swelling	biolink:AnatomicalEntity	mondo			labial swelling|labial primordium|labioscrotal swelling of female	http://purl.obolibrary.org/obo/UBERON_0011755	A genital swelling that is part of a female reproductive system.	
HGNC:4042	FZD4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4042		
UBERON:0011754	genital swelling	biolink:AnatomicalEntity	mondo			tuberculum labioscrotale|labioscrotal swelling	http://purl.obolibrary.org/obo/UBERON_0011754	Paired structures in the embryo that represent the final stage of development of the caudal end of the external genitals before sexual differentiation. In both males and females the two swellings merge: in the female, they become the posterior labial commissure; In the male, they become the scrotum	
IAO:0000103	failed exploratory term	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/IAO_0000103	The term was used in an attempt to structure part of the ontology but in retrospect failed to do a good job	
CHEBI:16541	protein polypeptide chain	biolink:ChemicalSubstance	mondo			Protein|protein polypeptide chains|polypeptide chain	http://purl.obolibrary.org/obo/CHEBI_16541	A naturally occurring polypeptide synthesized at the ribosome.	
IAO:0000102	data about an ontology part	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/IAO_0000102	data about an ontology part is a data item about a part of an ontology, for example a term	
UBERON:0008114	joint of girdle	biolink:AnatomicalEntity	mondo			girdle joint	http://purl.obolibrary.org/obo/UBERON_0008114	A skeletal joint that is part of a appendage girdle region.	
UBERON:0008115	surface of cartilage	biolink:AnatomicalEntity	mondo			cartilage surface	http://purl.obolibrary.org/obo/UBERON_0008115	A anatomical surface that is part of a cartilage element.	
GO:0002349	histamine production involved in inflammatory response	biolink:OntologyClass	mondo			histamine production involved in acute inflammatory response	http://purl.obolibrary.org/obo/GO_0002349	The synthesis or release of histamine following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels.	
GO:0002343	peripheral B cell selection	biolink:OntologyClass	mondo			peripheral B-lymphocyte selection|peripheral B-cell selection|peripheral B lymphocyte selection	http://purl.obolibrary.org/obo/GO_0002343	Any B cell selection process that occurs in the periphery.	
GO:0002344	B cell affinity maturation	biolink:OntologyClass	mondo			B-lymphocyte affinity maturation|B-cell affinity maturation|B lymphocyte affinity maturation	http://purl.obolibrary.org/obo/GO_0002344	The process in which B cells produce antibodies with increased antigen affinity. This is accomplished by somatic hypermutation and selection for B cells which produce higher affinity antibodies to antigen.	
NCBITaxon:2085	Mycoplasmatales	organism taxon	mondo	PMID:16350067|GC_ID:4		Borrelomycetales|Mollicutales|Paramycetales|Pleuropneumoniales|The Mycoplasmas|Mycoplasmas	http://purl.obolibrary.org/obo/NCBITaxon_2085		
IAO:0000078	curation status specification	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/IAO_0000078	The curation status of the term. The allowed values come from an enumerated list of predefined terms. See the specification of these instances for more detailed definitions of each enumerated value.	
GO:0002351	serotonin production involved in inflammatory response	biolink:OntologyClass	mondo			serotonin production involved in acute inflammatory response	http://purl.obolibrary.org/obo/GO_0002351	The synthesis or release of serotonin following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels.	
GO:0016999	antibiotic metabolic process	biolink:OntologyClass	mondo			antibiotic metabolism	http://purl.obolibrary.org/obo/GO_0016999	The chemical reactions and pathways involving an antibiotic, a substance produced by or derived from certain fungi, bacteria, and other organisms, that can destroy or inhibit the growth of other microorganisms.	
NCBITaxon:2093	Mycoplasma	organism taxon	mondo	PMID:11411711|PMID:25288662|PMID:8863441|PMID:10826816|PMID:15176735|PMID:13403276|PMID:16403858|PMID:16350067|PMID:11321109|PMID:11931184|PMID:8995799|GC_ID:4		Pleuropneumonia|Borrelomyces|Haemobartonella|Asterococcus|Eperythrozoon|Bovimyces|Asteromyces	http://purl.obolibrary.org/obo/NCBITaxon_2093		
NCBITaxon:2092	Mycoplasmataceae	organism taxon	mondo	PMID:13403276|PMID:16350067|GC_ID:4		Pleuropneumoniaceae|Borrelomycetaceae|Parasitaceae	http://purl.obolibrary.org/obo/NCBITaxon_2092		
GO:1905706	regulation of mitochondrial ATP synthesis coupled proton transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1905706	Any process that modulates the frequency, rate or extent of mitochondrial ATP synthesis coupled proton transport.	
GO:1905707	negative regulation of mitochondrial ATP synthesis coupled proton transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1905707	Any process that stops, prevents or reduces the frequency, rate or extent of mitochondrial ATP synthesis coupled proton transport.	
GO:0002335	mature B cell differentiation	biolink:OntologyClass	mondo			mature B-cell differentiation|mature B lymphocyte differentiation|mature B-lymphocyte differentiation|mature cell development	http://purl.obolibrary.org/obo/GO_0002335	The process in which transitional stage B cells acquire the specialized features of mature B cells in the spleen.	
GO:0051302	regulation of cell division	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0051302	Any process that modulates the frequency, rate or extent of the physical partitioning and separation of a cell into daughter cells.	
GO:0051301	cell division	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0051301	The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells.	
GO:0002339	B cell selection	biolink:OntologyClass	mondo			B-cell selection|B lymphocyte selection|B-lymphocyte selection	http://purl.obolibrary.org/obo/GO_0002339	The process dependent upon B cell antigen receptor signaling in response to self or foreign antigen through which B cells are selected for survival.	
UBERON:0011830	duct of lesser vestibular gland	biolink:AnatomicalEntity	mondo			lesser vestibular gland duct	http://purl.obolibrary.org/obo/UBERON_0011830	A duct that is part of a minor vestibular gland.	
UBERON:0011823	dense connective tissue	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011823	Dense connective tissue is mainly composed of collagen type I. Crowded between the collagen fibers are rows of fibroblasts, fiber-forming cells, that manufacture the fibers. Dense connective tissue forms strong, rope-like structures such as tendons and ligaments. Tendons attach skeletal muscles to bones; ligaments connect bones to bones at joints. Ligaments are more stretchy and contain more elastic fibers than tendons. Dense connective tissue also make up the lower layers of the skin (dermis), where it is arranged in sheets	
UBERON:0011822	dense irregular connective tissue	biolink:AnatomicalEntity	mondo			irregular dense connective tissue|typus irregularis (textus connectivus collagenosus compactus)	http://purl.obolibrary.org/obo/UBERON_0011822	Irregular connective tissue is an irregular connective tissue, the intercellular matrix of which contains a dense irregular network of collagen and elastic fiber bundles. Examples: connective tissue of peritoneum, connective tissue of fibrous pericardium.	
UBERON:0011821	irregular connective tissue	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011821	Connective tissue, which consists of a population of connective tissue cells, the intercellular matrix of which contains an irregular network of collagen and elastic fiber bundles. Examples: areolar tissue, mucoid tissue, connective tissue of peritoneum, connective tissue of fibrous pericardium.	
IAO:0000030	information content entity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/IAO_0000030	A generically dependent continuant that is about some thing.	
UBERON:0011820	atrioventricular region	biolink:AnatomicalEntity	mondo			atrioventricular junction|AV segment|atrial ventricular junction|AV region|atrioventricular segment	http://purl.obolibrary.org/obo/UBERON_0011820	An anatomical junction that divides and overlaps with and atrium and a ventricle in the heart.	
UBERON:0011826	vestibular gland	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011826	Lobular organ the parenchyma of which consists of glandular acini which communicate with the vestibule of vagina. Examples: right vestibular gland, lesser vestibular gland.	
UBERON:0011825	loose connective tissue	biolink:AnatomicalEntity	mondo			textus connectivus laxus|textus connectivus collagenosus laxus	http://purl.obolibrary.org/obo/UBERON_0011825	Irregular connective tissue, the intercellular matrix of which contains a sparse irregular network of collagen and elastic fiber bundles. Examples: areolar tissue, neuroglial tissue, mucoid tissue.	
UBERON:0011824	fibrous connective tissue	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011824		
GO:0002313	mature B cell differentiation involved in immune response	biolink:OntologyClass	mondo			mature B-cell differentiation during immune response|mature B cell differentiation during immune response|mature B cell development involved in immune response|mature B-lymphocyte differentiation during immune response|mature B lymphocyte differentiation during immune response	http://purl.obolibrary.org/obo/GO_0002313	The process in which a naive B cell acquires the specialized features of a mature or memory B cell during an immune response.	
GO:0004972	NMDA glutamate receptor activity	biolink:OntologyClass	mondo			N-methyl-D-aspartate selective glutamate receptor activity|NMDA receptor	http://purl.obolibrary.org/obo/GO_0004972	An cation channel that opens in response to binding by extracellular glutmate, but only if glycine is also bound and the membrane is depolarized.  Voltage gating is indirect, due to ejection of bound magnesium from the pore at permissive voltages.	
GO:0002312	B cell activation involved in immune response	biolink:OntologyClass	mondo			B lymphocyte activation during immune response|B-lymphocyte activation during immune response|B cell activation during immune response|B-cell activation during immune response	http://purl.obolibrary.org/obo/GO_0002312	The change in morphology and behavior of a mature or immature B cell during an immune response, resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.	
GO:0004970	ionotropic glutamate receptor activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0004970	Catalysis of the transmembrane transfer of an ion by a channel that opens when glutamate has been bound by the channel complex or one of its constituent parts.	
HGNC:6601	LIG4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6601		
UBERON:0011814	non-neurogenic ectodermal placode	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011814	Ectodermal placode that does not develop into a component of the nervous system.	
OBO:mondo#AMBIGUOUS	ambiguous	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/mondo#AMBIGUOUS		
UBERON:0011818	superficial fascia	biolink:AnatomicalEntity	mondo			superficial fascial layer|tela subcutanea|subcutaneous tissue	http://purl.obolibrary.org/obo/UBERON_0011818	Superficial fascia is found in the subcutis in most regions of the body, blending with the reticular layer of the dermis. It is present on the face, over the upper portion of the sternocleidomastoid, at the nape of the neck, and overlying the sternum. It is comprised mainly of loose areolar connective tissue and adipose and is the layer that primarily determines the shape of a body. In addition to its subcutaneous presence, this type of fascia surrounds organs and glands, neurovascular bundles, and is found at many other locations where it fills otherwise unoccupied space. It serves as a storage medium of fat and water; as a passageway for lymph, nerve and blood vessels; and as a protective padding to cushion and insulate. Superficial fascia is present, but does not contain fat, in the eyelids, ear, scrotum, penis and clitoris.	
UBERON:0011817	skin appendage placode	biolink:AnatomicalEntity	mondo			cutaneous appendage follicle placode|skin follicle placode	http://purl.obolibrary.org/obo/UBERON_0011817	An ectodermal placode that gives rise to any of the cutaneous appendages that protrude from the skin epidermis (heair, feathers, epidermal scales).	
GO:0051321	meiotic cell cycle	biolink:OntologyClass	mondo			meiosis	http://purl.obolibrary.org/obo/GO_0051321	Progression through the phases of the meiotic cell cycle, in which canonically a cell replicates to produce four offspring with half the chromosomal content of the progenitor cell via two nuclear divisions.	
GO:0051336	regulation of hydrolase activity	biolink:OntologyClass	mondo			hydrolase regulator	http://purl.obolibrary.org/obo/GO_0051336	Any process that modulates the frequency, rate or extent of hydrolase activity, the catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3.	
GO:0051339	regulation of lyase activity	biolink:OntologyClass	mondo			lyase regulator	http://purl.obolibrary.org/obo/GO_0051339	Any process that modulates the frequency, rate or extent of lyase activity, the catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring.	
GO:0051338	regulation of transferase activity	biolink:OntologyClass	mondo			transferase regulator	http://purl.obolibrary.org/obo/GO_0051338	Any process that modulates the frequency, rate or extent of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2.	
HGNC:6610	LIM2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6610		
GO:0051346	negative regulation of hydrolase activity	biolink:OntologyClass	mondo			down regulation of hydrolase activity|inhibition of hydrolase activity|down-regulation of hydrolase activity|hydrolase inhibitor|downregulation of hydrolase activity	http://purl.obolibrary.org/obo/GO_0051346	Any process that stops or reduces the rate of hydrolase activity, the catalysis of the hydrolysis of various bonds.	
GO:0051347	positive regulation of transferase activity	biolink:OntologyClass	mondo			up-regulation of transferase activity|activation of transferase activity|upregulation of transferase activity|up regulation of transferase activity|stimulation of transferase activity|transferase activator	http://purl.obolibrary.org/obo/GO_0051347	Any process that activates or increases the frequency, rate or extent of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from a donor compound to an acceptor.	
GO:0051345	positive regulation of hydrolase activity	biolink:OntologyClass	mondo			upregulation of hydrolase activity|up regulation of hydrolase activity|stimulation of hydrolase activity|up-regulation of hydrolase activity|activation of hydrolase activity|hydrolase activator	http://purl.obolibrary.org/obo/GO_0051345	Any process that activates or increases the frequency, rate or extent of hydrolase activity, the catalysis of the hydrolysis of various bonds.	
CHEBI:28479	D-tyrosine	biolink:ChemicalSubstance	mondo			(2R)-2-amino-3-(4-hydroxyphenyl)propanoic acid|DTY|(R)-3-(p-Hydroxyphenyl)alanine|(R)-2-Amino-3-(p-hydroxyphenyl)propionic acid|D-Tyr|D-Tyrosin|D-tyrosine|D-TYROSINE|D-Tyrosine	http://purl.obolibrary.org/obo/CHEBI_28479	An optically active form of tyrosine having D-configuration.	
GO:0051348	negative regulation of transferase activity	biolink:OntologyClass	mondo			downregulation of transferase activity|down regulation of transferase activity|inhibition of transferase activity|down-regulation of transferase activity|transferase inhibitor	http://purl.obolibrary.org/obo/GO_0051348	Any process that stops or reduces the rate of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from a donor compound to an acceptor.	
GO:0051349	positive regulation of lyase activity	biolink:OntologyClass	mondo			lyase activator|upregulation of lyase activity|stimulation of lyase activity|up regulation of lyase activity|activation of lyase activity|up-regulation of lyase activity	http://purl.obolibrary.org/obo/GO_0051349	Any process that activates or increases the frequency, rate or extent of lyase activity, the catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond.	
HGNC:6617	LIPA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6617		
HGNC:6619	LIPC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6619		
GO:0016937	short-branched-chain-acyl-CoA dehydrogenase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016937	Catalysis of the reaction: acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor, where the acyl group is a short branched chain fatty acid residue.	
HGNC:6621	LIPE	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6621		
GO:0051340	regulation of ligase activity	biolink:OntologyClass	mondo			ligase regulator	http://purl.obolibrary.org/obo/GO_0051340	Any process that modulates the frequency, rate or extent of ligase activity, the catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6.	
GO:0051341	regulation of oxidoreductase activity	biolink:OntologyClass	mondo			oxidoreductase regulator	http://purl.obolibrary.org/obo/GO_0051341	Any process that modulates the frequency, rate or extent of oxidoreductase activity, the catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced.	
HP:0011013	Abnormal circulating carbohydrate concentration	biolink:PhenotypicFeature	mondo	UMLS:C4023599			http://purl.obolibrary.org/obo/HP_0011013	A deviation from the normal concentration of a carbohydrate in the blood circulation.	
HP:0011014	Abnormal glucose homeostasis	biolink:PhenotypicFeature	mondo	UMLS:C4023598			http://purl.obolibrary.org/obo/HP_0011014	Abnormality of glucose homeostasis.	
HP:0011015	Abnormal blood glucose concentration	biolink:PhenotypicFeature	mondo	UMLS:C4023597		Abnormality of blood glucose concentration	http://purl.obolibrary.org/obo/HP_0011015	An abnormality of the concentration of glucose in the blood.	
HP:0011016	Abnormality of urine glucose concentration	biolink:PhenotypicFeature	mondo	UMLS:C4023596			http://purl.obolibrary.org/obo/HP_0011016	An abnormality of the concentration of glucose in the urine.	
HP:0011017	Abnormal cellular physiology	biolink:PhenotypicFeature	mondo	UMLS:C4023595		Abnormality of cell physiology	http://purl.obolibrary.org/obo/HP_0011017	An abnormality in a cellular process.	
HP:0001686	Loss of voice	biolink:PhenotypicFeature	mondo	MSH:D001044|SNOMEDCT_US:44564008|UMLS:C0003564|SNOMEDCT_US:441913003		Aphonia	http://purl.obolibrary.org/obo/HP_0001686		
ENVO:01001242	canopy	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001242	A vegetation layer which is formed by a collection of individual plant crowns, themselves constituting part of the aboveground portion of a plant community.	
MONDO:0036591	adrenal cortex neoplasm	biolink:Disease	mondo	NCIT:C2858		adrenal cortex tumor|neoplasm of adrenal cortex|adrenocortical neoplasm|adrenocortical tumor|adrenal cortex neoplasm|tumor of adrenal cortex	http://purl.obolibrary.org/obo/MONDO_0036591	A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05)	NCIT:C2858
ENVO:01001243	forest ecosystem	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001243	An ecosystem which is determined by communities of plants with a tree growth form and in which members of those communities form continuous or discontinuous regions of canopy cover.	
MONDO:0036595	ovarian Sertoli-Leydig cell tumor	biolink:Disease	mondo	NCIT:C2880|SCTID:254866007|UMLS:C0003810|EFO:1000429		arrhenoblastoma|Sertoli-Leydig neoplasm of the ovary|Sertoli-Leydig neoplasm of ovary|ovarian Sertoli-Leydig cell tumor|androblastoma|Sertoli-Leydig cell tumor of the ovary|Sertoli-Leydig cell tumor of ovary|ovarian Sertoli-Leydig cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0036595	A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8.	SNOMEDCT:254866007|UMLS:C0003810|NCIT:C2880
ENVO:01001239	forest canopy	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001239		
MONDO:0024597	obsolete CD3epsilon deficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0024597		
HP:0011001	Increased bone mineral density	biolink:PhenotypicFeature	mondo	MSH:D010026|SNOMEDCT_US:49347007|UMLS:C0029464		Increased bone density|Osteosclerosis|Increased bone mineral density|Osteosclerosis of bones	http://purl.obolibrary.org/obo/HP_0011001	An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.	
HP:0011002	Osteopetrosis	biolink:PhenotypicFeature	mondo	MSH:D010022|SNOMEDCT_US:367489004|UMLS:C0029454|SNOMEDCT_US:1926006		Albers-Schönberg disease|Marble bone disease|Albers-Schoenberg disease|Albers-Schonberg disease|Harder, denser, fracture-prone bones	http://purl.obolibrary.org/obo/HP_0011002	Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal.	
HP:0011004	Abnormal systemic arterial morphology	biolink:PhenotypicFeature	mondo	UMLS:C0151489|Fyler:2600|SNOMEDCT_US:234119001|UMLS:C4021205		Arterial abnormalities|Abnormal systemic artery morphology|Abnormality of the systemic arterial tree|Systemic artery abnormality	http://purl.obolibrary.org/obo/HP_0011004	An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries.	
NCBITaxon:1913638	Zoopagomycota	organism taxon	mondo	GC_ID:1|PMID:27738200			http://purl.obolibrary.org/obo/NCBITaxon_1913638		
NCBITaxon:1913637	Mucoromycota	organism taxon	mondo	GC_ID:1|PMID:27738200			http://purl.obolibrary.org/obo/NCBITaxon_1913637		
HP:0001697	Abnormal pericardium morphology	biolink:PhenotypicFeature	mondo	Fyler:1900|UMLS:C4025754		Abnormality of the pericardium	http://purl.obolibrary.org/obo/HP_0001697	An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery.	
HP:0001698	Pericardial effusion	biolink:PhenotypicFeature	mondo	MSH:D010490|Fyler:1940|SNOMEDCT_US:373945007|UMLS:C0031039		Pericardial effusions|Fluid around heart	http://purl.obolibrary.org/obo/HP_0001698	Accumulation of fluid within the pericardium.	
HP:0011008	Temporal pattern	biolink:PhenotypicFeature	mondo	UMLS:C4021204		Speed of onset	http://purl.obolibrary.org/obo/HP_0011008	The speed at which disease manifestations appear and develop.	
HP:0001669	Transposition of the great arteries	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:204296002|SNOMEDCT_US:26146002|UMLS:C3536741		Transposition of great vessels	http://purl.obolibrary.org/obo/HP_0001669	A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle.	
MONDO:0024582	male reproductive system neoplasm	biolink:Disease	mondo	SCTID:126895004|ICD9:239.5|NCIT:C3054		tumor of male reproductive organ|male reproductive organ neoplasm|tumor of Male reproductive system|tumor of the Male reproductive system|Male reproductive system neoplasm|neoplasm of male reproductive organ|male reproductive organ tumor|neoplasm of Male reproductive system|neoplasm of the Male reproductive system|Male reproductive system tumor	http://purl.obolibrary.org/obo/MONDO_0024582	A benign, borderline, or malignant neoplasm that affects the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign testicular Sertoli cell tumor, prostatic intraepithelial neoplasia, prostate carcinoma, testicular seminoma, and testicular embryonal carcinoma.	SNOMEDCT:126895004|NCIT:C3054
MONDO:0024581		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0024581		
MONDO:0024583	obsolete hernia	biolink:Disease	mondo	NCIT:C34685|MESH:D006547|ICD10:K40.K46		hernias|enterocele	http://purl.obolibrary.org/obo/MONDO_0024583	The protrusion of part of an organ or fibroadipose tissue through an abnormal opening.	MESH:D006547|NCIT:C34685
HP:0001662	Bradycardia	biolink:PhenotypicFeature	mondo	MSH:D001919|UMLS:C0428977|SNOMEDCT_US:48867003		Slow heartbeats|Brachycardia	http://purl.obolibrary.org/obo/HP_0001662	A slower than normal heart rate (in adults, slower than 60 beats per minute).	
HP:0001663	Ventricular fibrillation	biolink:PhenotypicFeature	mondo	UMLS:C0042510|MSH:D014693|SNOMEDCT_US:71908006			http://purl.obolibrary.org/obo/HP_0001663	Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.	
HP:0001660	Truncus arteriosus	biolink:PhenotypicFeature	mondo	MSH:D014338|Fyler:500|SNOMEDCT_US:58140002|ICD-10:Q20.0|Fyler:0500|UMLS:C4020867|UMLS:C0041206		Common arterial trunk|Persistant truncus arteriosus	http://purl.obolibrary.org/obo/HP_0001660	A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.	
HP:0025634	Abnormal ureter physiology	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0025634	A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.	
MONDO:0024575	pregnancy disorder	biolink:Disease	mondo	SCTID:173300003|MESH:D011248|NCIT:C35169		disorder of pregnancy|pregnancy disorder|complication, pregnancy|pregnancy disease|complication of pregnancy or childbirth|disorder of pregnancy, childbirth, or puerperium|Complications, pregnancy|pregnancy complication	http://purl.obolibrary.org/obo/MONDO_0024575	A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor.	MESH:D011248|SNOMEDCT:173300003|NCIT:C35169
MONDO:0024574	von Willebrand disease (hereditary or acquired)	biolink:Disease	mondo	ICD9:286.4|NCIT:C68677|SCTID:128105004|MESH:D014842|ICD10:D68.0|COHD:434316		von Willebrand's disease|von Willebrand disorder|von Willebrand disease|VWD	http://purl.obolibrary.org/obo/MONDO_0024574	Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding.	NCIT:C68677|MESH:D014842|SNOMEDCT:128105004
HP:0001679	Abnormal aortic morphology	biolink:PhenotypicFeature	mondo	UMLS:C4025756|Fyler:1453		Abnormality of the aorta|Abnormal aorta morphology	http://purl.obolibrary.org/obo/HP_0001679	An abnormality of the aorta.	
MONDO:0024571	AIDS-related disorder	biolink:Disease	mondo	UMLS:C0877121|NCIT:C4991		AIDS/HIV - relatedDisease associated with AIDS|disease associated with AIDS|AIDS-related disorder|AIDS-related complications	http://purl.obolibrary.org/obo/MONDO_0024571	A non-neoplastic or neoplastic disorder arising as a result of the immunologic defects caused by Autoimmune deficiency Syndrome.	UMLS:C0877121|NCIT:C4991
MONDO:0024570	hyperparathyroidism 4	biolink:Disease	mondo	UMLS:C4479229|OMIM:617343|UMLS:CN240514		hyperparathyroidism 4; HRPT4|HRPT4|GCM2 familial isolated hyperparathyroidism|familial isolated hyperparathyroidism caused by mutation in GCM2	http://purl.obolibrary.org/obo/MONDO_0024570	Any familial isolated hyperparathyroidism in which the cause of the disease is a mutation in the GCM2 gene.	http://identifiers.org/omim/617343|UMLS:C4479229|UMLS:CN240514
MONDO:0024573	familial hypertrophic cardiomyopathy	biolink:Disease	mondo	OMIMPS:192600|NCIT:C84773|DOID:0080326|MESH:D024741|GARD:0007229|SCTID:471885006		hereditary hypertrophic cardiomyopathy|hypertrophic familial cardiomyopathy|familial hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic	http://purl.obolibrary.org/obo/MONDO_0024573	Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions.	MESH:D024741|NCIT:C84773|SNOMEDCT:471885006|DOID:0080326
MONDO:0024572	immunodeficiency-related disorder	biolink:Disease	mondo	UMLS:C1334159|NCIT:C35686		Immunodepression-related disorder|immunodeficiency-related disorder|Immunosuppression-related disorder|Immunosuppression disorders	http://purl.obolibrary.org/obo/MONDO_0024572	A non-neoplastic or neoplastic disorder that develops in a patient with immunodeficiency. Representative examples include AIDS-related disorders and disorders that develop following organ transplantation.	UMLS:C1334159|NCIT:C35686
MONDO:0012597	prostate cancer, hereditary, 9	biolink:Disease	mondo	MESH:C567031|OMIM:610997|UMLS:C1970250		HPC9|prostate cancer, hereditary, type 9|prostate cancer, hereditary, 9	http://purl.obolibrary.org/obo/MONDO_0012597		http://identifiers.org/omim/610997|UMLS:C1970250|MESH:C567031
MONDO:0012598	GINGF4	biolink:Disease	mondo	GARD:0002475|OMIM:611010|MESH:C567028		fibromatosis, gingival, 4|fibromatosis gingival, hereditary, 4|gingival fibromatosis, 4|fibromatosis, gingival, hereditary, 4|GGF4|HGF4|hereditary gingival fibromatosis, 4|fibromatosis, gingival, 4; GINGF4|GINGF4	http://purl.obolibrary.org/obo/MONDO_0012598		MESH:C567028|http://identifiers.org/omim/611010
MONDO:0012595	leprosy, susceptibility to, 4	biolink:Disease	mondo	OMIM:610988	predisposition	leprosy, susceptibility to, type 4|LPRS4|leprosy, susceptibility to, 4; LPRS4|leprosy caused by mutation in LTA|leprosy, early-onset, susceptibility to|LTA leprosy|susceptibility to leprosy 4|leprosy, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0012595	Any leprosy in which the cause of the disease is a mutation in the LTA gene.	http://identifiers.org/omim/610988
MONDO:0012596	PSAT deficiency	biolink:Disease	mondo	OMIM:610992|MESH:C567032|SCTID:718603002|UMLS:C1970253|Orphanet:284417|DOID:0050723|GARD:0013273|ICD10:E72.8	ordo_disease	phosphoserine aminotransferase deficiency; PSATD|phosphoserine aminotransferase deficiency|PSAT deficiency|PSATD	http://purl.obolibrary.org/obo/MONDO_0012596	Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.	http://identifiers.org/omim/610992|SNOMEDCT:718603002|UMLS:C1970253|MESH:C567032|ORPHA:284417|DOID:0050723
MONDO:0012599	HYT8	biolink:Disease	mondo	OMIM:611014	predisposition	hypertension, essential, susceptibility to, 8; HYT8|hypertension, essential, susceptibility to, 8|HYT8	http://purl.obolibrary.org/obo/MONDO_0012599		http://identifiers.org/omim/611014
MONDO:0012590	XFE progeroid syndrome	biolink:Disease	mondo	UMLS:C1970416|GARD:0010628|DOID:0060590|MESH:C567043|OMIM:610965	gard_rare	XFE progeroid syndrome|XPF-ERCC1 progeroid syndrome|XFE progeroid syndrome; XFEPS|XFEPS	http://purl.obolibrary.org/obo/MONDO_0012590	A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13.	DOID:0060590|UMLS:C1970416|MESH:C567043|http://identifiers.org/omim/610965
MONDO:0012593	brain-lung-thyroid syndrome	biolink:Disease	mondo	MESH:C567034|GARD:0012163|SCTID:719098007|Orphanet:209905|OMIM:610978|ICD10:E03.1	gard_rare|ordo_disease	choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome|choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction; CAHTP|BLT syndrome|CAHTP|choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction|choreoathetosis-hypothyroidism-neonatal respiratory distress|brain-lung-thyroid syndrome	http://purl.obolibrary.org/obo/MONDO_0012593	Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC).	http://identifiers.org/omim/610978|SNOMEDCT:719098007|MESH:C567034|ORPHA:209905
MONDO:0012594	complement factor I deficiency	biolink:Disease	mondo	MESH:C572568|DOID:0050419|UMLS:C3463916|OMIM:610984|Orphanet:200418|ICD10:D84.1	ordo_disease	immunodeficiency with factor I anomaly|complement factor I deficiency|CFID|complement Factor 1 deficiency|complement component 3 inactivator deficiency|complement factor I deficiency; CFID|C3 inactivator deficiency	http://purl.obolibrary.org/obo/MONDO_0012594		http://identifiers.org/omim/610984|UMLS:C3463916|MESH:C572568|DOID:0050419|ORPHA:200418
MONDO:0012591	osteogenesis imperfecta type 5	biolink:Disease	mondo	UMLS:C1970414|DOID:0110344|OMIM:610967|MESH:C567042|Orphanet:216828|ICD10:Q78.0|GARD:0008699	ordo_clinical_subtype	osteogenesis imperfecta type V|osteogenesis imperfecta, type V; OI5|OI with calcification in interosseous membranes|osteogenesis imperfecta, type V|type V OI|IFITM5 osteogenesis imperfecta|OI5|OI type V|osteogenesis imperfecta caused by mutation in IFITM5|OI type 5|OI, type 5|osteogenesis imperfecta, type 5	http://purl.obolibrary.org/obo/MONDO_0012591	Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI).	UMLS:C2931093|ORPHA:216828|MESH:C567042|UMLS:C1970414|MESH:C536046|DOID:0110344|http://identifiers.org/omim/610967
MONDO:0012592	osteogenesis imperfecta type 11	biolink:Disease	mondo	DOID:0110351|OMIM:610968|GARD:0012875|UMLS:C3151218|ICD10:Q78.0		FKBP10 osteogenesis imperfecta|osteogenesis imperfecta type XI|osteogenesis imperfecta, type 11|OI type XI|OI, type 11|osteogenesis imperfecta, type XI; OI11|OI type 11|osteogenesis imperfecta, type XI|osteogenesis imperfecta caused by mutation in FKBP10|OI11	http://purl.obolibrary.org/obo/MONDO_0012592	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the FKBP10 gene.	UMLS:C3151218|DOID:0110351|http://identifiers.org/omim/610968
ENVO:01001206	grassland ecosystem	biolink:OntologyClass	mondo			herbaceous area|grassland|GRASSLAND|down|Grassland|downs|grazing area|downland|glade	http://purl.obolibrary.org/obo/ENVO_01001206	An ecosystem in which grasses (Graminae) are the dominant form of vegetation and determine the system's structure and dynamics.	
ENVO:01001205	lithification	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001205	A process during which sediments compact under pressure, expel connate fluids, and gradually become solid sedimentary rock.	
ENVO:01001201	marine environmental zone	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001201	An environmental zone which is bounded by material parts of a marine environment.	
GO:0002381	immunoglobulin production involved in immunoglobulin-mediated immune response	biolink:OntologyClass	mondo			immunoglobulin production during immune response|immunoglobulin production involved in immunoglobulin mediated immune response|immunoglobulin production involved in immune response|antibody secretion during immune response|immunoglobulin biosynthetic process involved in immune response|immunoglobulin secretion involved in immune response|antibody production during immune response	http://purl.obolibrary.org/obo/GO_0002381	The appearance of immunoglobulin due to biosynthesis or secretion following a cellular stimulus during an immune response, resulting in an increase in its intracellular or extracellular levels.	
ENVO:01001200	anthropised terrestrial environmental zone	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001200	A terrestrial zone which is bounded by constructed, manufactured, or other anthropogenic material entities.	
HP:0011043	Abnormality of circulating adrenocorticotropin level	biolink:PhenotypicFeature	mondo	UMLS:C4023574		Abnormality of circulating adrenocorticotropin level|Abnormality of circulating corticotropin level|Abnormality of circulating adrenocorticotropic hormone level|Abnormality of circulating ACTH level	http://purl.obolibrary.org/obo/HP_0011043	An abnormal concentration of corticotropin in the blood.	
HP:0011042	Abnormal blood potassium concentration	biolink:PhenotypicFeature	mondo	UMLS:C4023575		Abnormal blood K concentration|Abnormality of potassium homeostasis	http://purl.obolibrary.org/obo/HP_0011042	An abnormal concentration of potassium.	
CHEBI:77425	EC 1.1.1.188 (prostaglandin-F synthase) inhibitor	biolink:ChemicalSubstance	mondo			PGF synthetase inhibitor|prostaglandin D2-ketoreductase inhibitors|prostaglandin 11-ketoreductase inhibitor|EC 1.1.1.188 inhibitor|reductase, 15-hydroxy-11-oxoprostaglandin inhibitor|PGD2 11-ketoreductase inhibitors|reductase, 15-hydroxy-11-oxoprostaglandin inhibitors|PGD2 11-ketoreductase inhibitor|prostaglandin 11-ketoreductase inhibitors|EC 1.1.1.188 inhibitors|PGF synthetase inhibitors|prostaglandin D2-ketoreductase inhibitor|prostaglandin-D2 11-reductase inhibitors|(5Z,13E)-(15S)-9alpha,11alpha,15-trihydroxyprosta-5,13-dienoate:NADP(+) 11-oxidoreductase inhibitor|synthetase, prostaglandin F2alpha inhibitors|prostaglandin 11-keto reductase inhibitor|prostaglandin F synthase inhibitors|PGF2alpha synthetase inhibitors|prostaglandin F synthetase inhibitors|NADPH-dependent prostaglandin D2 11-keto reductase inhibitors|EC 1.1.1.188 (prostaglandin-F synthase) inhibitors|NADPH-dependent prostaglandin D2 11-keto reductase inhibitor|prostaglandin F synthetase inhibitor|PGF2alpha synthetase inhibitor|prostaglandin F synthase inhibitor|prostaglandin 11-keto reductase inhibitors|synthetase, prostaglandin F2alpha inhibitor|(5Z,13E)-(15S)-9alpha,11alpha,15-trihydroxyprosta-5,13-dienoate:NADP(+) 11-oxidoreductase inhibitors|prostaglandin-D2 11-reductase inhibitor	http://purl.obolibrary.org/obo/CHEBI_77425	An EC 1.1.1.* (oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor) inhibitor that interferes with the action of prostaglandin-F synthase (EC 1.1.1.188).	
HP:0011032	Abnormality of fluid regulation	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:1860003|UMLS:C2364164|SNOMEDCT_US:190902006		Fluid imbalance|Abnormality of fluid regulation	http://purl.obolibrary.org/obo/HP_0011032	An abnormality of the regulation of body fluids.	
ENVO:01001227	aquatic natural environment	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001227	A natural environment which is within a water body.	
HP:0011035	Abnormal renal cortex morphology	biolink:PhenotypicFeature	mondo	UMLS:C4023580		Abnormality of renal cortex morphology	http://purl.obolibrary.org/obo/HP_0011035	An abnormality of the cortex of the kidney.	
ENVO:01001226	terrestrial natural environment	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001226	A natural environment which is located on a land mass.	
GO:0002366	leukocyte activation involved in immune response	biolink:OntologyClass	mondo			immune cell activation during immune response|leucocyte activation during immune response|leukocyte activation during immune response	http://purl.obolibrary.org/obo/GO_0002366	A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response.	
GO:0002367	cytokine production involved in immune response	biolink:OntologyClass	mondo			cytokine biosynthetic process involved in immune response|cytokine production during immune response|cytokine secretion involved in immune response|cytokine secretion during immune response	http://purl.obolibrary.org/obo/GO_0002367	The appearance of a cytokine due to biosynthesis or secretion following a cellular stimulus contributing to an immune response, resulting in an increase in its intracellular or extracellular levels.	
HP:0011030	Abnormal blood transition element cation concentration	biolink:PhenotypicFeature	mondo	UMLS:C4023584		Abnormality of transition element cation homeostasis	http://purl.obolibrary.org/obo/HP_0011030	An abnormality of the homeostasis (concentration) of transition element cation.	
HP:0011031	Abnormality of iron homeostasis	biolink:PhenotypicFeature	mondo	UMLS:C4023583			http://purl.obolibrary.org/obo/HP_0011031	An abnormality of the homeostasis (concentration) of iron cation.	
ENVO:01001216	ultraviolet stellar radiation	biolink:OntologyClass	mondo			ultraviolet solar radiation	http://purl.obolibrary.org/obo/ENVO_01001216	A stellar radiation process during which electromagnetic waves or their quanta are emitted from a star at wavelengths between 10 nm and 400 nm.	
HP:0011024	Abnormality of the gastrointestinal tract	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:25374005|SNOMEDCT_US:119292006|MSH:D004066|UMLS:C0012242|SNOMEDCT_US:53619000|UMLS:C0017178|UMLS:C4023588|MSH:D005767		Abnormality of the GI tract|Gastrointestinal disease|Digestive system disease|Abnormality of the gastrointestinal tract	http://purl.obolibrary.org/obo/HP_0011024	An abnormality of the gastrointestinal tract.	
HP:0011025	Abnormal cardiovascular system physiology	biolink:PhenotypicFeature	mondo	UMLS:C4023587		Abnormality of cardiovascular system physiology	http://purl.obolibrary.org/obo/HP_0011025	Abnormal functionality of the cardiovascular system.	
GO:0002376	immune system process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002376	Any process involved in the development or functioning of the immune system, an organismal system for calibrated responses to potential internal or invasive threats.	
ENVO:01001215	visible spectrum stellar radiation	biolink:OntologyClass	mondo			optical stellar radiation|visible spectrum solar radiation	http://purl.obolibrary.org/obo/ENVO_01001215	A stellar radiation process during which electromagnetic waves or their quanta are emitted from a star at wavelengths between 380 nm and 760 nm.	
GO:0002377	immunoglobulin production	biolink:OntologyClass	mondo			antibody production|immunoglobulin biosynthetic process|immunoglobulin secretion	http://purl.obolibrary.org/obo/GO_0002377	The appearance of immunoglobulin due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels.	
HP:0011028	Abnormality of blood circulation	biolink:PhenotypicFeature	mondo	UMLS:C4020760|UMLS:C4023585		Blood circulation disorder	http://purl.obolibrary.org/obo/HP_0011028	An abnormality of blood circulation.	
HGNC:21390	RIPPLY2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21390		
HGNC:21396	ABHD5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21396		
HP:0011029	Internal hemorrhage	biolink:PhenotypicFeature	mondo	UMLS:C1390214		Internal bleeding|Internal haemorrhage	http://purl.obolibrary.org/obo/HP_0011029	The presence of hemorrhage within the body.	
ENVO:01001211	stellar radiation	biolink:OntologyClass	mondo			solar radiation	http://purl.obolibrary.org/obo/ENVO_01001211	An electromagnetic radiation process during which electromagnetic waves or their quanta are emitted from a star.	
MONDO:0000432	lymphoplasmacytic lymphoma	biolink:Disease	mondo	NCIT:C3212|ICD9:273.3|ONCOTREE:LPL|ICDO:9761/3|UMLS:C0334633|ICDO:9671/3|ICD10:C88.0|DOID:0050747		lymphoma, lymphoplasmacytic, malignant|lymphoplasmacytic lymphoma (Waldenstrom macroglobulinemia)|lymphoma, plasmacytic|lymphoplasmacytoid lymphoma|Immunocytoma, lymphoplasmacytic type|lymphoplasmacytic lymphoma	http://purl.obolibrary.org/obo/MONDO_0000432	A clonal neoplasm of small B-lymphocytes, lymphoplasmacytoid cells, and plasma cells involving the bone marrow, lymph nodes, and the spleen. The majority of patients have a serum IgM paraprotein.	DOID:0050747|NCIT:C3212|UMLS:C0334633
MONDO:0000431	obsolete mantle cell lymphoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000431		
MONDO:0000430	mature T-cell and NK-cell non-Hodgkin lymphoma	biolink:Disease	mondo	DOID:0050743|MESH:D016411|ICDO:9702/3|ICD10:C84.4|GARD:0007368|SCTID:109977009|COHD:434881|DOID:0050749|NCIT:C3468	gard_rare	NK-T cell lymphoma|mature T-cell and NK-cell non-Hodgkin's lymphoma|PTCL|mature T-cell and NK-cell non-Hodgkin lymphoma|mature T-cell lymphoma|peripheral T-cell lymphoma|mature T-cell non-Hodgkin's lymphoma|mature T-and NK-cell lymphoma|mature T-cell and natural killer cell lymphoma|mature T-cell and NK-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0000430	This type of lymphoma is not frequently seen in the western hemisphere. Clinically, with the exception of anaplastic large cell lymphoma, mature T- and NK-cell lymphomas are among the most aggressive of all hematopoietic neoplasms. Representative disease entities include mycosis fungoides, angioimmunoblastic T-cell lymphoma, hepatosplenic T-cell lymphoma, and anaplastic large cell lymphoma.	DOID:0050743|DOID:0050749|MESH:D016411|SNOMEDCT:109977009|NCIT:C3468
MONDO:0000436	obsolete T-cell large granular lymphocyte leukemia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000436		
MONDO:0000435	obsolete splenic marginal zone lymphoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000435		
MONDO:0000434	obsolete peripheral T-cell lymphoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000434		
MONDO:0024404	obsolete meningitis caused by anaerobic bacteria	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0024404		
MONDO:0000433	obsolete marginal zone B-cell lymphoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000433		
MONDO:0012418	autosomal recessive nonsyndromic deafness 62	biolink:Disease	mondo	UMLS:C1857820|ICD10:H90.3|OMIM:610143|DOID:0110514|MESH:C565719		DFNB62|autosomal recessive nonsyndromic deafness type 62|deafness, autosomal recessive 62|deafness, autosomal recessive 62; DFNB62|autosomal recessive deafness 62	http://purl.obolibrary.org/obo/MONDO_0012418	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 12p13.2-p11.23.	UMLS:C1857820|http://identifiers.org/omim/610143|MESH:C565719|DOID:0110514
MONDO:0012419	age related macular degeneration 7	biolink:Disease	mondo	OMIM:610149|UMLS:C1857813|DOID:0110019|MESH:C565718		ARMD7|macular Degeneration, age-related, type 7|macular Degeneration, age-related, neovascular type, susceptibility to|age-related macular degeneration caused by mutation in HTRA1|macular degeneration, age-related, 7; ARMD7|macular Degeneration, age-related, wet type, susceptibility to|age related macular degeneration type 7|HTRA1 age-related macular degeneration|macular degeneration, age-related, 7	http://purl.obolibrary.org/obo/MONDO_0012419	Any age-related macular degeneration in which the cause of the disease is a mutation in the HTRA1 gene.	UMLS:C1857813|http://identifiers.org/omim/610149|DOID:0110019|MESH:C565718
MONDO:0012416	Devriendt syndrome	biolink:Disease	mondo	MESH:C535947|UMLS:C1857830|OMIM:610136|GARD:0010052	gard_rare	Devriendt syndrome|severe short stature, hyperphalangy of the index fingers, intellectual disability and facial dysmorphism|severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism	http://purl.obolibrary.org/obo/MONDO_0012416		UMLS:C1857830|http://identifiers.org/omim/610136|MESH:C535947
MONDO:0012417	heart-hand syndrome, Slovenian type	biolink:Disease	mondo	ICD10:Q87.2|UMLS:C1857829|MESH:C535852|OMIM:610140|Orphanet:168796|GARD:0009846|SCTID:721014007	gard_rare|ordo_malformation_syndrome	atriodigital dysplasia, Slovenian type|Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome|heart-hand syndrome, Slovenian type	http://purl.obolibrary.org/obo/MONDO_0012417	Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.	ORPHA:168796|UMLS:C1857829|http://identifiers.org/omim/610140|SNOMEDCT:721014007|MESH:C535852
HGNC:21484	MCM9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21484		
MONDO:0012421	autosomal recessive nonsyndromic deafness 44	biolink:Disease	mondo	ICD10:H90.3|UMLS:C1857809|OMIM:610154|DOID:0110501|MESH:C565716		autosomal recessive deafness 44|ADCY1 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness caused by mutation in ADCY1|deafness, autosomal recessive type 44|DFNB44|deafness, autosomal recessive 44; DFNB44|deafness, autosomal recessive 44|autosomal recessive nonsyndromic deafness type 44	http://purl.obolibrary.org/obo/MONDO_0012421	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ADCY1 gene.	UMLS:C1857809|http://identifiers.org/omim/610154|MESH:C565716|DOID:0110501
MONDO:0012422	type 1 diabetes mellitus 19	biolink:Disease	mondo	OMIM:610155|UMLS:C1857808|ICD10:E10|DOID:0110756|MESH:C565715		IDDM19|diabetes mellitus, insulin-dependent, 19; IDDM19|insulin-dependent diabetes mellitus 19|diabetes mellitus, insulin-dependent, 19	http://purl.obolibrary.org/obo/MONDO_0012422	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q24.3.	UMLS:C1857808|http://identifiers.org/omim/610155|MESH:C565715|DOID:0110756
MONDO:0012420	autosomal recessive nonsyndromic deafness 49	biolink:Disease	mondo	OMIM:610153|DOID:0110506|UMLS:C1857811|ICD10:H90.3|NCIT:C129024|MESH:C565717		autosomal recessive deafness 49|DFNB49|deafness, autosomal recessive 49; DFNB49|autosomal recessive nonsyndromic deafness type 49|deafness, autosomal recessive type 49|deafness, autosomal recessive 49|autosomal recessive nonsyndromic deafness caused by mutation in MARVELD2|MARVELD2 autosomal recessive nonsyndromic deafness	http://purl.obolibrary.org/obo/MONDO_0012420	An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness.	NCIT:C129024|UMLS:C1857811|http://identifiers.org/omim/610153|MESH:C565717|DOID:0110506
MONDO:0012425	FECD2	biolink:Disease	mondo	UMLS:C1857800|OMIM:610158		corneal dystrophy, Fuchs endothelial, 2|corneal dystrophy, Fuchs endothelial, late-onset|corneal dystrophy, Fuchs endothelial, 2; FECD2|FECD2|Fcd1 locus	http://purl.obolibrary.org/obo/MONDO_0012425		UMLS:C1857800|http://identifiers.org/omim/610158
MONDO:0012426	immunodeficiency 25	biolink:Disease	mondo	MESH:C565712|DOID:0060007|OMIM:610163|UMLS:C1857798		IMD25|severe combined immunodeficiency (disease) caused by mutation in CD247|immunodeficiency type 25|CD3zeta deficiency|immunodeficiency 25; IMD25|immunodeficiency due to defect in CD3-zeta|immunodeficiency 25|CD247 severe combined immunodeficiency (disease)	http://purl.obolibrary.org/obo/MONDO_0012426	Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene.	UMLS:C1857798|http://identifiers.org/omim/610163|MESH:C565712|DOID:0060007
MONDO:0012423	MORM syndrome	biolink:Disease	mondo	OMIM:610156|MESH:C536984|Orphanet:75858|GARD:0010121|UMLS:C1857802|SCTID:715628009	gard_rare|ordo_disease	intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome|MORM syndrome|mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome|intellectual disability, truncal obesity, retinal dystrophy, and micropenis syndrome|mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome; MORMS|mental retardation, truncal obesity, retinal dystrophy and micropenis|MORMS|intellectual disability, truncal obesity, retinal dystrophy and micropenis|intellectual disability, truncal obesity, retinal dystrophy, and micropenis syndrome; MORMS|mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome	http://purl.obolibrary.org/obo/MONDO_0012423	MORM syndrome is characterised by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34.	ORPHA:75858|UMLS:C1857802|http://identifiers.org/omim/610156|MESH:C536984|SNOMEDCT:715628009
MONDO:0012424	obsolete heat-shock RNA 1	biolink:Disease	mondo	OMIM:610157		Hsr1|heat-shock RNA type 1|heat-shock RNA 1	http://purl.obolibrary.org/obo/MONDO_0012424		http://identifiers.org/omim/610157
MONDO:0000429	autosomal genetic disease	biolink:Disease	mondo	DOID:0050739|ICD9:758.5|UMLS:C0265384|SCTID:1899006		autosomal inherited disorder|autosomal hereditary disorder|autosomal inherited disease	http://purl.obolibrary.org/obo/MONDO_0000429	A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes.	SNOMEDCT:1899006|UMLS:C0265384|DOID:0050739
MONDO:0000428	Y-linked disease	biolink:Disease	mondo	DOID:0050738|MESH:D050174|UMLS:C1563751		genetic disease, Y-linked|disease, Y-linked genetic|disease, Y-linked|Y-linked disease or disorder|genetic diseases, Y linked|Y-linked genetic disease|diseases, Y-linked genetic|Y-linked genetic diseases|disease or disorder, Y-linked|Y linked genetic diseases|genetic diseases, Y-chromosome linked|genetic diseases, Y chromosome linked	http://purl.obolibrary.org/obo/MONDO_0000428	Y-linked form of disease.	UMLS:C1563751|DOID:0050738|MESH:D050174
MONDO:0000427	obsolete autosomal recessive disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000427		
MONDO:0000426	autosomal dominant disease	biolink:Disease	mondo	DOID:0050736|UMLS:C0265385|ICD9:758.5|SCTID:11164009		disease or disorder, autosomal dominant|autosomal dominant inherited disorder|autosomal dominant disease or disorder|autosomal dominant hereditary disorder|disease, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0000426	Autosomal dominant form of disease.	UMLS:C0265385|SNOMEDCT:11164009|DOID:0050736
HGNC:6595	LHX3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6595		
HGNC:6597	LIFR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6597		
HGNC:21497	ACAD9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21497		
MONDO:0000443	obsolete adenylosuccinase lyase deficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000443		
MONDO:0000442	obsolete paramyloidosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000442		
MONDO:0000441	obsolete X-linked myopathy with excessive autophagy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000441		
MONDO:0000440	metabolic acidosis	biolink:Disease	mondo	SCTID:59455009|DOID:0050758			http://purl.obolibrary.org/obo/MONDO_0000440		DOID:0050758|SNOMEDCT:59455009
HGNC:21498	ATG16L1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21498		
MONDO:0000447	autosomal dominant polycystic liver disease	biolink:Disease	mondo	GARD:0009457|ICD9:751.62|NCIT:C82833|OMIMPS:174050|DOID:0050770|UMLS:C0158683|HP:0006557|SCTID:72925005		ADPLD|congenital hepatic cyst|fibrocystic liver disease|AD polycystic liver disease|congenital cystic liver disease|PCLD|polycystic liver disease	http://purl.obolibrary.org/obo/MONDO_0000447	An autosomal dominant inherited condition characterized by many cysts of various sizes scattered throughout the liver.	NCIT:C82833|MESH:C536330|UMLS:C0158683|DOID:0050770|SNOMEDCT:72925005
MONDO:0000446	midface dysplasia	biolink:Disease	mondo	DOID:0050767			http://purl.obolibrary.org/obo/MONDO_0000446		DOID:0050767
MONDO:0000445	obsolete neuroacanthocytosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000445		
MONDO:0000444	obsolete ARC syndrome	biolink:Disease	mondo			pericyte cell syndromic disease	http://purl.obolibrary.org/obo/MONDO_0000444		
MONDO:0012407	pyridoxal phosphate-responsive seizures	biolink:Disease	mondo	SCTID:724576005|Orphanet:79096|OMIM:610090|UMLS:C1864723|MESH:C566449|DOID:0111329|GARD:0010730|ICD10:G40.8	ordo_disease	pyridoxamine 5-prime-phosphate oxidase deficiency; PNPOD|pyridoxine 5' phosphate oxidase deficiency|pyridoxal 5'-phosphate-dependent epilepsy|pyridoxamine 5'-phosphate oxidase deficiency|epileptic encephalopathy, neonatal, Pnpo-related|seizures, pyridoxine-resistant, PLP-sensitive|PNPOD|pyridoxamine 5'-oxidase deficiency|PNPO deficiency|pyridoxine-5'-phosphate oxidase deficiency|pyridoxal phosphate-dependent seizures|Pnpo deficiency|PNPO-related neonatal epileptic encephalopathy|pyridoxamine 5-prime-phosphate oxidase deficiency	http://purl.obolibrary.org/obo/MONDO_0012407	Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.	UMLS:C1864723|SNOMEDCT:724576005|MESH:C566449|http://identifiers.org/omim/610090|DOID:0111329|ORPHA:79096
MONDO:0012408	microphthalmia, isolated, with coloboma 3	biolink:Disease	mondo	OMIM:610092|UMLS:C1864721		MCOPCB3|microphthalmia, colobomatous, isolated 3|microphthalmia, isolated, with coloboma type 3|microphthalmia, isolated, with coloboma 3; MCOPCB3|microphthalmia, isolated, with coloboma 3|VSX2 microphthalmia, isolated, with coloboma|microphthalmia, isolated, with coloboma caused by mutation in VSX2|microphthalmia, cataracts, and iris abnormalities	http://purl.obolibrary.org/obo/MONDO_0012408	Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the VSX2 gene.	UMLS:C1864721|http://identifiers.org/omim/610092
MONDO:0012405	polyposis syndrome, hereditary mixed, 2	biolink:Disease	mondo	DOID:0111686|UMLS:C1864730|OMIM:610069|MESH:C566451		polyposis syndrome, hereditary mixed, type 2|polyposis syndrome, hereditary mixed, 2; HMPS2|BMPR1A hereditary mixed polyposis syndrome|HMPS2|polyposis syndrome, hereditary mixed, 2|hereditary mixed polyposis syndrome caused by mutation in BMPR1A	http://purl.obolibrary.org/obo/MONDO_0012405	Any hereditary mixed polyposis syndrome in which the cause of the disease is a mutation in the BMPR1A gene.	UMLS:C1864730|MESH:C566451|http://identifiers.org/omim/610069|DOID:0111686
MONDO:0012406	HRPT3	biolink:Disease	mondo	UMLS:C1864729|OMIM:610071|MESH:C566450		HRPT3|hyperparathyroidism, familial isolated|hyperparathyroidism 3|hyperparathyroidism 3; HRPT3	http://purl.obolibrary.org/obo/MONDO_0012406		UMLS:C1864729|MESH:C566450|http://identifiers.org/omim/610071
HGNC:21493	DNAAF4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21493		
MONDO:0012409	isolated microphthalmia 2	biolink:Disease	mondo	DOID:0060839|OMIM:610093|ICD10:Q11.0|UMLS:C1864720|MESH:C566446		MCOP2|VSX2 isolated microphthalmia|microphthalmia, isolated 2|anophthalmia, clinical, isolated|isolated microphthalmia caused by mutation in VSX2|microphthalmia, isolated 2; MCOP2|microphthalmia, isolated type 2|isolated microphthalmia type 2	http://purl.obolibrary.org/obo/MONDO_0012409	Any isolated microphthalmia in which the cause of the disease is a mutation in the VSX2 gene.	DOID:0060839|UMLS:C1864720|MESH:C566446|http://identifiers.org/omim/610093
MONDO:0012410	Finnish upper limb-onset distal myopathy	biolink:Disease	mondo	Orphanet:399086|OMIM:610099|UMLS:C1864706|SCTID:763718009|ICD10:G71.0	ordo_disease	distal myopathy type 3|myopathy, distal, 3|MPD3|myopathy, distal, 3; MPD3	http://purl.obolibrary.org/obo/MONDO_0012410	Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common.	ORPHA:399086|http://identifiers.org/omim/610099|UMLS:C1864706|SNOMEDCT:763718009
MONDO:0012411	giant axonal neuropathy 2	biolink:Disease	mondo	ICD10:G60.0|DOID:0090069|GARD:0012447|UMLS:CN226146|Orphanet:401964|OMIM:610100|UMLS:C1864695	ordo_disease	GAN2|HMSN2 with giant axons|giant axonal neuropathy 2, autosomal dominant; GAN2|autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons|DCAF8 giant axonal neuropathy|autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons|CMT2 with giant axons|giant axonal neuropathy caused by mutation in DCAF8|giant axonal neuropathy 2, autosomal dominant|giant axonal neuropathy type 2	http://purl.obolibrary.org/obo/MONDO_0012411	Any giant axonal neuropathy in which the cause of the disease is a mutation in the DCAF8 gene.	UMLS:CN226146|ORPHA:401964|http://identifiers.org/omim/610100|DOID:0090069|UMLS:C1864695
ENVO:01001192	sediment surface	biolink:OntologyClass	mondo			surface sediment|surface of a sedimentary mass	http://purl.obolibrary.org/obo/ENVO_01001192	The surface layer of a mass of sediment.	
ENVO:01001191	water surface	biolink:OntologyClass	mondo			water body surface|surface of a body of water	http://purl.obolibrary.org/obo/ENVO_01001191	The surface layer of a volume of water.	
MONDO:0012414	neuronal ceroid lipofuscinosis 10	biolink:Disease	mondo	SCTID:720831008|GARD:0001218|MESH:C566438|Orphanet:228337|DOID:0110725|ICD10:E75.4|OMIM:610127	ordo_etiological_subtype|gard_rare	CLN10 disease, congenital (subtype)|neuronal ceroid lipofuscinosis due to cathepsin D deficiency|neuronal ceroid lipofuscinosis cathepsin D-deficient|CLN10|CLN10 disease, adult (subtype)|CLN10 disease, late infantile (subtype)|ceroid lipofuscinosis neuronal Cathepsin D-deficient|neuronal ceroid lipofuscinosis, congenital|neuronal ceroid lipofuscinosis type 10|CTSD neuronal ceroid lipofuscinosis|ceroid lipofuscinosis, neuronal, Cathepsin D-deficient|CLN10 disease, juvenile (subtype)|CLN10 disease|ceroid lipofuscinosis, neuronal, 10; CLN10|Cathepsin D deficiency|ceroid lipofuscinosis, neuronal, type 10|neuronal ceroid lipofuscinosis due to Cathepsin D deficiency|ceroid lipofuscinosis, neuronal, 10|neuronal ceroid lipofuscinosis caused by mutation in CTSD	http://purl.obolibrary.org/obo/MONDO_0012414	Neuronal ceroid lipofuscinosis 10(CLN10-NCL) is arare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.	ORPHA:228337|MESH:C566438|http://identifiers.org/omim/610127|SNOMEDCT:720831008|DOID:0110725
MONDO:0012415	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	biolink:Disease	mondo	MESH:C566437|UMLS:C1864668|DOID:0111525|OMIM:610131		progressive external ophthalmoplegia, autosomal dominant 4|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4|POLG2 progressive external ophthalmoplegia with mitochondrial DNA deletions|PEOA4|progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in POLG2|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 4|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4; PEOA4	http://purl.obolibrary.org/obo/MONDO_0012415	Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the POLG2 gene.	UMLS:C1864668|MESH:C566437|http://identifiers.org/omim/610131|DOID:0111525
MONDO:0012412	complement component 7 deficiency	biolink:Disease	mondo	OMIM:610102|UMLS:C1864694|DOID:0060300|ICD10:D84.1|MESH:C566443		C7 classic complement early component deficiency|complement component 7 deficiency|complement component 7 deficiency; C7D|C7 deficiency|C7D|classic complement early component deficiency caused by mutation in C7	http://purl.obolibrary.org/obo/MONDO_0012412	Any classic complement early component deficiency in which the cause of the disease is a mutation in the C7 gene.	MESH:C566443|http://identifiers.org/omim/610102|DOID:0060300|UMLS:C1864694
MONDO:0012413	syndromic microphthalmia type 5	biolink:Disease	mondo	OMIM:610125|Orphanet:178364|GARD:0003692|SCTID:718761007|UMLS:C1864690|MESH:C566441|UMLS:C4305151|ICD10:Q11.2	ordo_malformation_syndrome	microphthalmia, syndromic 5|syndromic microphthalmia/anophthalmia due to OTX2 mutation|MCOPS5|OTX2-related eye disorders|microphthalmia, syndromic type 5|microphthalmia syndromic 5|syndromic microphthalmia caused by mutation in OTX2|retinal dystrophy, early-onset, with or without pituitary dysfunction|OTX2 syndromic microphthalmia|microphthalmia, syndromic 5; MCOPS5	http://purl.obolibrary.org/obo/MONDO_0012413	Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.	ORPHA:178364|UMLS:C4305151|SNOMEDCT:718761007|MESH:C566441|http://identifiers.org/omim/610125|UMLS:C1864690
MONDO:0000439	obsolete batten disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000439		
MONDO:0000438	obsolete ataxia with oculomotor apraxia type 2	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000438		
MONDO:0000437	cerebellar ataxia	biolink:Disease	mondo	SCTID:85102008|NCIT:C82341|COHD:435242|MESH:D002524|GARD:0012060|UMLS:C0087012|DOID:0050753|Orphanet:102002|ICD9:334.3	ordo_group_of_disorders	cerebellar dysmetria|spinocerebellar ataxia|ataxia, cerebellar|cerebellar Dysmetrias|ataxias, cerebellar|ataxia|cerebellar Ataxias|rare ataxia|ataxia syndrome|spinocerebellar Degeneration	http://purl.obolibrary.org/obo/MONDO_0000437	A neurological syndrome characterised by clumsy and unco-ordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways.	NCIT:C82341|SNOMEDCT:85102008|MESH:D002524|DOID:0050753|ORPHA:102002|UMLS:C0087012
ENVO:01001199	terrestrial environmental zone	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001199	An environmental zone which is bounded by material parts of a land mass or the atmosphere or space adjacent to it.	
MONDO:0000410	funisitis	biolink:Disease	mondo	NCIT:C97077|ICD9:658.80|SCTID:396343006|DOID:0050698|UMLS:C1275592			http://purl.obolibrary.org/obo/MONDO_0000410	An acute inflammation of the umbilical cord. It is characterized by the presence of polymorphonuclear cells migrating from the fetal umbilical cord vessels through the umbilical cord towards the bacteria containing amniotic fluid.	DOID:0050698|SNOMEDCT:396343006|NCIT:C97077|UMLS:C1275592
MONDO:0000414	childhood electroclinical syndrome	biolink:Disease	mondo	DOID:0050704		pediatric electroclinical syndrome|electroclinical syndrome of childhood	http://purl.obolibrary.org/obo/MONDO_0000414	A electroclinical syndrome that occurs during childhood.	DOID:0050704
UBERON:0008281	tooth bud	biolink:AnatomicalEntity	mondo			dental germ|dental bud|tooth germ	http://purl.obolibrary.org/obo/UBERON_0008281	A knoblike tooth primordium that develops into the mature tooth and consists of enamel organ, dental papilla, and dental sac enclosing them.	
MONDO:0000413	infancy electroclinical syndrome	biolink:Disease	mondo	DOID:0050703			http://purl.obolibrary.org/obo/MONDO_0000413	An electroclinical syndrome with onset in infancy occurring between birth and one year of age.	DOID:0050703
MONDO:0000412	neonatal period electroclinical syndrome	biolink:Disease	mondo	DOID:0050702			http://purl.obolibrary.org/obo/MONDO_0000412	An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age.	DOID:0050702
MONDO:0000411	electroclinical syndrome	biolink:Disease	mondo	DOID:0050701		electro-clinical syndrome	http://purl.obolibrary.org/obo/MONDO_0000411	An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep.	DOID:0050701
NCBITaxon:544448	Tenericutes	organism taxon	mondo	PMID:29458499|PMID:26654112|GC_ID:11		Mollicutota|Mollicutaeota	http://purl.obolibrary.org/obo/NCBITaxon_544448		
HP:0001824	Weight loss	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:161832001|UMLS:C1262477|SNOMEDCT_US:89362005|SNOMEDCT_US:262285001|MSH:D015431			http://purl.obolibrary.org/obo/HP_0001824	Reduction inexisting body weight.	
MONDO:0012400	cortical dysplasia-focal epilepsy syndrome	biolink:Disease	mondo	ICD10:Q04.8|OMIM:610042|Orphanet:163681|UMLS:C1864887|DOID:0090130|NCIT:C133743	ordo_disease	CDFES|Pitt-Hopkins-like syndrome 1|CDFE syndrome|CDFE syndrome|cortical dysplasia-focal epilepsy syndrome|Pitt-Hopkins-like syndrome 1; PTHSL1|PTHSL1|cortical dysplasia-focal epilepsy syndrome; CDFES	http://purl.obolibrary.org/obo/MONDO_0012400	An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder.	UMLS:C1864887|NCIT:C133743|http://identifiers.org/omim/610042|DOID:0090130|ORPHA:163681
MONDO:0012403	systemic lupus erythematosus, susceptibility to, 7	biolink:Disease	mondo	OMIM:610065	predisposition	systemic lupus erythematosus, susceptibility to, 7|systemic lupus erythematosus, susceptibility to, 7; SLEB7|SLEB7	http://purl.obolibrary.org/obo/MONDO_0012403		http://identifiers.org/omim/610065
MONDO:0012404	systemic lupus erythematosus, susceptibility to, 8	biolink:Disease	mondo	OMIM:610066	predisposition	systemic lupus erythematosus, susceptibility to, 8; SLEB8|systemic lupus erythematosus, susceptibility to, 8|SLEB8	http://purl.obolibrary.org/obo/MONDO_0012404		http://identifiers.org/omim/610066
MONDO:0012401	congenital stromal corneal dystrophy	biolink:Disease	mondo	Orphanet:101068|MESH:C566452|SCTID:702359002|DOID:0060445|ICD10:H18.5|UMLS:C1864738|OMIM:610048|ICD9:371.56	ordo_disease	corneal dystrophy, congenital stromal; CSCD|CSCD|congenital stromal corneal dystrophy|congenital hereditary stromal dystrophy|Witschel dystrophy|corneal dystrophy, congenital stromal	http://purl.obolibrary.org/obo/MONDO_0012401	Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.	UMLS:C1864738|MESH:C566452|http://identifiers.org/omim/610048|DOID:0060445|ORPHA:101068|SNOMEDCT:702359002
MONDO:0012402	opioid dependence, susceptibility to, 1	biolink:Disease	mondo	OMIM:610064	predisposition	opioid dependence, susceptibility to, 1|Ods1|opioid dependence, susceptibility to, type 1	http://purl.obolibrary.org/obo/MONDO_0012402		http://identifiers.org/omim/610064
MONDO:0000407	malignant pleural solitary fibrous tumor	biolink:Disease	mondo	DOID:0050695		pleural solitary fibrous tumor, malignant	http://purl.obolibrary.org/obo/MONDO_0000407	A malignant form of pleural solitary fibrous tumor.	DOID:0050695
MONDO:0000406	obsolete Brown-Vialetto-van Laere syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000406		
MONDO:0000405	anal canal cancer	biolink:Disease	mondo	ICD9:154.2|UMLS:C0153445|SCTID:363352004|DOID:0050688		cancer of anal canal|anal canal cancer|malignant neoplasm of anal canal|malignant anal canal neoplasm	http://purl.obolibrary.org/obo/MONDO_0000405	A malignant neoplasm involving the anal canal	UMLS:C0153445|SNOMEDCT:363352004|DOID:0050688
MONDO:0000404	obsolete cell type cancer	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000404		
MONDO:0000409	chorioamnionitis	biolink:Disease	mondo	MESH:D002821|SCTID:11612004|NCIT:C26720|DOID:0050697		inflammation of fetal membrane|fetal membrane inflammation|intra-amniotic infection	http://purl.obolibrary.org/obo/MONDO_0000409	A morphologic finding indicating inflammation of the fetal sac membranes. It is characterized by neutrophilic infiltration of the amnion and chorion.	NCIT:C26720|SNOMEDCT:11612004|MESH:D002821|DOID:0050697
MONDO:0000408	fetal alcohol spectrum disorder	biolink:Disease	mondo	UMLS:C2985290|NCIT:C92780|SCTID:609437000|UMLS:CN200663|DOID:0050696			http://purl.obolibrary.org/obo/MONDO_0000408	A group of disorders caused by a prenatal exposure to maternal consumption of alcohol leading to a range of behavioral, cognitive and neurological deficits in the offspring. It is characterized by physical growth problems, distinct facies, and varying psycho-neurological issues.	SNOMEDCT:609437000|UMLS:C2985290|UMLS:CN200663|DOID:0050696|NCIT:C92780
MONDO:0000421	inborn serine deficiency	biolink:Disease	mondo	DOID:0050721		rare inborn error of L-serine biosynthetic process|inborn error of L-serine biosynthetic process|inborn L-serine biosynthetic process disorder	http://purl.obolibrary.org/obo/MONDO_0000421	An acquired metabolic disease that is has its basis in the disruption of L-serine biosynthetic process.	DOID:0050721
MONDO:0000420	obsolete cerebral folate receptor alpha deficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000420		
HGNC:21474	INPP5E	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21474		
MONDO:0000425	X-linked disease	biolink:Disease	mondo	UMLS:C2828000|DOID:0050735|UMLS:C1138434|MESH:D040181|ICD9:799.89|NCIT:C85865|SCTID:128430005		X-linked hereditary disease|X-linked disease or disorder|disease, X-linked|X-linked hereditary disorder|X linked genetic diseases|X-linked inherited disease|disease or disorder, X-linked|genetic diseases, X-chromosome linked|genetic disease, X-linked|genetic diseases, X chromosome linked|disease, X-linked genetic|genetic diseases, X linked|X-linked genetic disease|diseases, X-linked genetic|X-linked genetic diseases|X-linked inherited disorder	http://purl.obolibrary.org/obo/MONDO_0000425	X-linked form of disease.	SNOMEDCT:128430005|UMLS:C2828000|DOID:0050735|MESH:D040181|UMLS:C1138434|NCIT:C85865
NCBITaxon:63417	Trichophyton verrucosum	organism taxon	mondo	GC_ID:1		Ectotrichophyton verrucosum|Favotrichophyton verrucosum	http://purl.obolibrary.org/obo/NCBITaxon_63417		
MONDO:0000424	inborn vitamin B12 deficiency (disease)	biolink:Disease	mondo	EFO:0000734|DOID:0050731		hypocobalaminemia|rare inborn error of cobalamin metabolic process|inborn cobalamin metabolic process disorder|inborn error of cobalamin metabolic process|cobalamin deficiency	http://purl.obolibrary.org/obo/MONDO_0000424	Low serum levels of vitamin B12 (cobalamin) due to poor intestinal absorption, decreased dietary intake, or increased physiologic requirement.	DOID:0050731
HGNC:21478	RFX6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21478		
NCBITaxon:63419	Trichophyton concentricum	organism taxon	mondo	GC_ID:1		Oospora concentrica|Aspergillus concentricum|Mycoderma concentricum|Lepidophyton concentricum|Achorion concentricum|Endodermophyton concentricum	http://purl.obolibrary.org/obo/NCBITaxon_63419		
MONDO:0000423	obsolete coenzyme Q10 deficiency disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000423		
MONDO:0000422	obsolete inborn glycogen metabolism disorder	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000422		
GO:0110165	cellular anatomical entity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0110165	A part of a cellular organism that is either an immaterial entity or a material entity with granularity above the level of a protein complex but below that of an anatomical system. Or, a substance produced by a cellular organism with granularity above the level of a protein complex.	
MONDO:0000418	obsolete Ohtahara syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000418		
MONDO:0000417	early onset absence epilepsy	biolink:Disease	mondo	DOID:0050708			http://purl.obolibrary.org/obo/MONDO_0000417	A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years.	DOID:0050708
MONDO:0000416	obsolete variable age at onset electroclinical syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000416		
MONDO:0000415	adolescence-adult electroclinical syndrome	biolink:Disease	mondo	DOID:0050705			http://purl.obolibrary.org/obo/MONDO_0000415	An electroclinical syndrome with onset in adolescence and adulthood.	DOID:0050705
MONDO:0000419	obsolete 3-Methylcrotonyl-CoA carboxylase deficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000419		
MONDO:0000476	generalized dystonia	biolink:Disease	mondo	SCTID:425492002|MESH:D004422|ICD9:333.8|ICD9:333.6|DOID:0050835|ICD10:G24.2|ICD10:G24.1|ICD9:333.89		torsion dystonia|symptomatic torsion dystonia|torsion disease of childhood|dystonias, Idiopathic torsion|torsion dystonia, Idiopathic|spasm, Progressive torsion|Progressive torsion spasm|Idiopathic torsion dystonias|dystonias, torsion|Idiopathic torsion dystonia|idiopathic torsion dystonia|childhood torsion disease|dystonia 12|Oppenheim Ziehen disease|dystonia, Idiopathic torsion|torsion spasm, Progressive|torsion disease, childhood|dystonia deformans progressiva|dystonia deformans musculorum|Oppenheim-Ziehen disease|idiopathic non-familial dystonia|idiopathic familial dystonia|dystonia musculorum deformans|familial dystonia|fragments of torsion dystonia	http://purl.obolibrary.org/obo/MONDO_0000476		DOID:0050835|MESH:D004422|SNOMEDCT:425492002
MONDO:0000475	obsolete pyrimidine metabolic disorder	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000475		
MONDO:0000474	pericardium disease	biolink:Disease	mondo	DOID:0050829|SCTID:55855009|ICD9:423.9|UMLS:C0265122|ICD9:423.8		disease of pericardium|pericardium disease or disorder|disorder of pericardium|pericardium disease|disease or disorder of pericardium	http://purl.obolibrary.org/obo/MONDO_0000474	A disease involving the pericardium.	DOID:0050829|SNOMEDCT:55855009|UMLS:C0265122
MONDO:0000473	arterial disorder	biolink:Disease	mondo	UMLS:C0852949|ICD9:447.9|ICD9:447.8|DOID:0050828|NCIT:C35317|SCTID:359557001		disease of artery|disease or disorder of artery|artery disease|arterial disease|arteriopathy|artery disease or disorder|disorder of artery|arterial disorder	http://purl.obolibrary.org/obo/MONDO_0000473	An impairment of the structure or function of the blood vessels which carry blood away from the heart.	UMLS:C0852949|NCIT:C35317|SNOMEDCT:359557001|DOID:0050828
MONDO:0000479	segmental dystonia	biolink:Disease	mondo	UMLS:C1997740|DOID:0050838|SCTID:427945008|ICD9:333.89			http://purl.obolibrary.org/obo/MONDO_0000479	A dystonia that affects two or more adjacent parts of the body.	SNOMEDCT:427945008|DOID:0050838|UMLS:C1997740
MONDO:0000478	multifocal dystonia	biolink:Disease	mondo	DOID:0050837			http://purl.obolibrary.org/obo/MONDO_0000478	A dystonia that involves two or more unrelated body parts.	DOID:0050837
MONDO:0000477	focal dystonia	biolink:Disease	mondo	UMLS:C0743332|DOID:0050836|SCTID:445006008			http://purl.obolibrary.org/obo/MONDO_0000477	A dystonia that is localized to a specific part of the body.	DOID:0050836|UMLS:C0743332|SNOMEDCT:445006008
UBERON:0035881	ethmoidomaxillary suture	biolink:AnatomicalEntity	mondo			sutura ethmoidomaxillaris|ethmoidomaxillary suture of skull	http://purl.obolibrary.org/obo/UBERON_0035881	A suture between the orbital surface of the body of the maxilla with the orbital plate of the ethmoid bone.	
HP:0001888	Lymphopenia	biolink:PhenotypicFeature	mondo	UMLS:C0024312|SNOMEDCT_US:48813009|MSH:D008231		Lymphocytopenia|Absolute lymphocyte count decrease|Decreased blood lymphocyte number|Low lymphocyte number	http://purl.obolibrary.org/obo/HP_0001888	A reduced number of lymphocytes in the blood.	
HP:0001889	Megaloblastic anemia	biolink:PhenotypicFeature	mondo	MSH:D000749|SNOMEDCT_US:53165003|UMLS:C0002888		Megaloblastic anaemia	http://purl.obolibrary.org/obo/HP_0001889	Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts).	
MONDO:0000472	obsolete rheumatic heart disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000472		
MONDO:0000471	tricuspid valve disease	biolink:Disease	mondo	NCIT:C78649|ICD9:397.0|DOID:0050826|UMLS:C0264776|ICD10:I07|UMLS:C0264882|ICD10:I07.9|SCTID:20721001		tricuspid valve disorder|disease of tricuspid valve|disorder of tricuspid valve|rheumatic disease of tricuspid valve|tricuspid valve disease|RH. tricuspid valve disease|disease or disorder of tricuspid valve|rheumatic tricuspid valve disease|tricuspid disease|tricuspid valve disease or disorder	http://purl.obolibrary.org/obo/MONDO_0000471	A disease involving the tricuspid valve.	UMLS:C0264882|SNOMEDCT:20721001|NCIT:C78649|DOID:0050826|UMLS:C0264776
UBERON:0035884	maxillary-premaxillary suture	biolink:AnatomicalEntity	mondo			premaxillary suture|incisive suture|maxillary-premaxillary incisive suture	http://purl.obolibrary.org/obo/UBERON_0035884	A suture between the maxilla and premaxilla.	
MONDO:0000470	endocardium disease	biolink:Disease	mondo	UMLS:C0854140|DOID:0050825|SCTID:123596001		endocardial disease|disease or disorder of endocardium|disease of endocardium|endocardiopathy|endocardium disease or disorder|disorder of endocardium|endocardium disease	http://purl.obolibrary.org/obo/MONDO_0000470	A disease involving the endocardium.	SNOMEDCT:123596001|UMLS:C0854140|DOID:0050825
MONDO:0012465	hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	biolink:Disease	mondo	OMIM:610293|UMLS:C4510605|GARD:0009965|ICD10:E88.8|SCTID:724344004|Orphanet:83639|UMLS:C1853205	ordo_disease|gard_rare	glycosylphosphatidylinositol deficiency|PIGM-CDG|GPID|GPI deficiency|glycosylphosphatidylinositol deficiency; GPID|congenital disorder of glycosylation due to PIGM deficiency|glycosylphosphatidylinositol biosynthesis defect 1	http://purl.obolibrary.org/obo/MONDO_0012465	The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI.	ORPHA:83639|UMLS:C1853205|SNOMEDCT:724344004|UMLS:C4510605|http://identifiers.org/omim/610293
HP:0001882	Leukopenia	biolink:PhenotypicFeature	mondo	MSH:D007970|SNOMEDCT_US:84828003|UMLS:C0023530		Low white blood cell count|Decreased blood leukocyte number	http://purl.obolibrary.org/obo/HP_0001882	An abnormal decreased number of leukocytes in the blood.	
MONDO:0012466	Parkinson disease 13, autosomal dominant, susceptibility to	biolink:Disease	mondo	OMIM:610297|MESH:C565204	predisposition	Parkinson disease 13, autosomal dominant, susceptibility to; PARK13|young-onset Parkinson disease caused by mutation in HTRA2|Parkinson disease 13, autosomal dominant, susceptibility to|susceptibility to autosomal dominant Parkinson disease 13|PARK13|HTRA2 young-onset Parkinson disease	http://purl.obolibrary.org/obo/MONDO_0012466	Any young-onset Parkinson disease in which the cause of the disease is a mutation in the HTRA2 gene.	MESH:C565204|http://identifiers.org/omim/610297
HP:0001883	Talipes	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:398309008|MSH:D000070558|UMLS:C1301937|UMLS:C3552713		Talipes foot deformities	http://purl.obolibrary.org/obo/HP_0001883	A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.	
MONDO:0012463	retinitis pigmentosa 35	biolink:Disease	mondo	DOID:0110357|OMIM:610282|MESH:C565206|GARD:0010402|ICD10:H35.5|UMLS:C1853214	gard_rare	RP35|retinitis pigmentosa 35|RP 35|retinitis pigmentosa caused by mutation in SEMA4A|retinitis pigmentosa type 35|SEMA4A retinitis pigmentosa|retinitis pigmentosa 35; RP35	http://purl.obolibrary.org/obo/MONDO_0012463	Any retinitis pigmentosa in which the cause of the disease is a mutation in the SEMA4A gene.	UMLS:C1853214|MESH:C565206|http://identifiers.org/omim/610282|DOID:0110357
HP:0001880	Eosinophilia	biolink:PhenotypicFeature	mondo	MSH:D004802|UMLS:C0014457		High blood eosinophil count	http://purl.obolibrary.org/obo/HP_0001880	Increased count of eosinophils in the blood.	
HP:0001881	Abnormal leukocyte morphology	biolink:PhenotypicFeature	mondo	UMLS:C0152009|SNOMEDCT_US:24827003|SNOMEDCT_US:134199001		Abnormal leukocyte function|Abnormality of leukocytes	http://purl.obolibrary.org/obo/HP_0001881	An abnormality of leukocytes.	
MONDO:0012464	cone-rod dystrophy 10	biolink:Disease	mondo	OMIM:610283|DOID:0111017|UMLS:C1846529|MESH:C564597		CORD10|SEMA4A cone-rod dystrophy|cone-rod dystrophy type 10|cone-rod dystrophy 10; CORD10|cone-rod dystrophy 10|cone-rod dystrophy caused by mutation in SEMA4A	http://purl.obolibrary.org/obo/MONDO_0012464	Any cone-rod dystrophy in which the cause of the disease is a mutation in the SEMA4A gene.	MESH:C564597|UMLS:C1846529|DOID:0111017|http://identifiers.org/omim/610283
MONDO:0012469	MYP14	biolink:Disease	mondo	OMIM:610320|UMLS:C1853196|MESH:C565202		myopia 14; MYP14|MYP14|myopia 14	http://purl.obolibrary.org/obo/MONDO_0012469		http://identifiers.org/omim/610320|UMLS:C1853196|MESH:C565202
MONDO:0012467	cold-induced sweating syndrome 2	biolink:Disease	mondo	DOID:0080330|MESH:C564791|OMIM:610313|UMLS:C1853198		CLCF1 cold-induced sweating syndrome|cold-induced sweating syndrome 2|Crisponi/cold-induced sweating syndrome 2|CRISPONI/cold-induced sweating syndrome 2; CISS2|CISS2|cold-induced sweating syndrome 2; CISS2|cold-induced sweating syndrome type 2|cold-induced sweating syndrome caused by mutation in CLCF1	http://purl.obolibrary.org/obo/MONDO_0012467	Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the CLCF1 gene.	http://identifiers.org/omim/610313|UMLS:C1853198|MESH:C564791|DOID:0080330
MONDO:0012468	rhizomelic dysplasia, scoliosis, and retinitis pigmentosa	biolink:Disease	mondo	GARD:0009968|MESH:C537610|UMLS:C1853197|OMIM:610319	gard_rare	rhizomelic dysplasia, scoliosis, and retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0012468		http://identifiers.org/omim/610319|UMLS:C1853197|MESH:C537610
ENVO:01001164	geodiversity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001164	A quality which inheres in a astronomical body or astronomical body part by virtue of the variation in its material composition, participation in geological processes, and the variation in is land- and hydroforms.	
MONDO:0012461	bulimia nervosa, susceptibility to, 2	biolink:Disease	mondo	OMIM:610269	predisposition	moved to 607499 and 606788|BULN2|bulimia nervosa, susceptibility to, 2; BULN2|anorexia nervosa, susceptibility to, 2|bulimia nervosa, susceptibility to, type 2|susceptibility to bulimia nervosa 2|bulimia nervosa, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0012461		http://identifiers.org/omim/610269
MONDO:0012462	autosomal recessive frontotemporal pachygyria	biolink:Disease	mondo	UMLS:C1853215|OMIM:610279|GARD:0010003|MESH:C538092|ICD10:Q04.3|Orphanet:329329	ordo_malformation_syndrome	pachygyria, frontotemporal	http://purl.obolibrary.org/obo/MONDO_0012462		UMLS:C1853215|MESH:C538092|ORPHA:329329|http://identifiers.org/omim/610279
MONDO:0012460	autosomal recessive nonsyndromic deafness 67	biolink:Disease	mondo	UMLS:C1853223|MESH:C565207|OMIM:610265|DOID:0110518|ICD10:H90.3	clingen	autosomal recessive nonsyndromic deafness type 67|autosomal recessive nonsyndromic deafness caused by mutation in LHFPL5|deafness, autosomal recessive type 67|deafness, autosomal recessive 67; DFNB67|LHFPL5 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 67|DFNB67|autosomal recessive deafness 67	http://purl.obolibrary.org/obo/MONDO_0012460	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LHFPL5 gene.	UMLS:C1853223|MESH:C565207|http://identifiers.org/omim/610265|DOID:0110518
MONDO:0000487	hemidystonia	biolink:Disease	mondo	SCTID:427232004|DOID:0050846|ICD9:333.99|UMLS:C1960561			http://purl.obolibrary.org/obo/MONDO_0000487	A multifocal dystonia that involves the arm and leg on the same side of the body.	SNOMEDCT:427232004|UMLS:C1960561|DOID:0050846
MONDO:0024432	nerve plexus disease	biolink:Disease	mondo	UMLS:C1335437|NCIT:C27744|SCTID:2231001|DOID:3688		nerve plexus disorder|nerve plexus disease or disorder|disorder of nerve plexus|disease of nerve plexus|disorder of nerve plexus|disease or disorder of nerve plexus|nerve plexus disease|plexopathy	http://purl.obolibrary.org/obo/MONDO_0024432	A disease that involves the nerve plexus.	DOID:3688|NCIT:C27744|UMLS:C1335437|SNOMEDCT:2231001
MONDO:0000486	craniofacial dystonia	biolink:Disease	mondo	UMLS:C4023011|DOID:0050845|GARD:0010667	gard_rare	cranio-facial dystonia	http://purl.obolibrary.org/obo/MONDO_0000486	A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck.	UMLS:C4023011|DOID:0050845
MONDO:0024431	bilirubin metabolism disease	biolink:Disease	mondo	SCTID:80006005		disorder of bilirubin metabolism	http://purl.obolibrary.org/obo/MONDO_0024431		SNOMEDCT:80006005
MONDO:0000485	spasmodic dystonia	biolink:Disease	mondo	UMLS:C1963946|DOID:0050844|Orphanet:93961|MESH:D055154|ICD9:478.79|SCTID:3331000119108|GARD:0007668		mixed spasmodic dysphonia (type)|laryngeal dyskinesia|spastic dysphonia|spasmodic dysphonia|adductor spasmodic dysphonia|laryngeal dystonia|abductor spasmodic dysphonia	http://purl.obolibrary.org/obo/MONDO_0000485	A chronic voice disorder characterized by momentary periods of uncontrolled spasms of the muscles of the larynx.	SNOMEDCT:3331000119108|ORPHA:93961|MESH:D055154|DOID:0050844|UMLS:C1963946
MONDO:0000484	obsolete oromandibular dystonia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000484		
MONDO:0000489	diabetic encephalopathy	biolink:Disease	mondo	DOID:0050850			http://purl.obolibrary.org/obo/MONDO_0000489	A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes.	DOID:0050850
MONDO:0000488	periampullary adenoma	biolink:Disease	mondo	DOID:0050849|UMLS:CN068444		periampullary region of duodenum adenoma	http://purl.obolibrary.org/obo/MONDO_0000488	A adenoma that involves the periampullary region of duodenum.	DOID:0050849|UMLS:CN068444
MONDO:0012449	spinocerebellar ataxia type 23	biolink:Disease	mondo	GARD:0009950|UMLS:C4305146|DOID:0050973|UMLS:C1853250|MESH:C537201|Orphanet:101108|SCTID:718772002|OMIM:610245|ICD10:G11.2	ordo_disease	spinocerebellar ataxia type 23|spinocerebellar ataxia 23; SCA23|spinocerebellar ataxia 23|SCA23	http://purl.obolibrary.org/obo/MONDO_0012449	Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.	MESH:C537201|http://identifiers.org/omim/610245|SNOMEDCT:718772002|DOID:0050973|UMLS:C1853250|ORPHA:101108|UMLS:C4305146
MONDO:0000483	oculogyric crisis	biolink:Disease	mondo	DOID:0050842			http://purl.obolibrary.org/obo/MONDO_0000483	A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes.	DOID:0050842
MONDO:0000482	focal hand dystonia	biolink:Disease	mondo	SCTID:52008007|ICD9:333.84|DOID:0050841|UMLS:C0154676		hand and arm dystonia|organic writer's cramp|writer's cramp	http://purl.obolibrary.org/obo/MONDO_0000482	A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions.	UMLS:C0154676|SNOMEDCT:52008007|DOID:0050841
MONDO:0000481	cervical dystonia	biolink:Disease	mondo	GARD:0010668|Orphanet:93962|SCTID:74333002|ICD9:333.83|NCIT:C85072|DOID:0050840|COHD:376387	gard_rare	spasmodic torticollis	http://purl.obolibrary.org/obo/MONDO_0000481	Cervical dystonia is a neurological condition characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head (dystonia).Most commonly, the head turns to one side or the other.Tilting sideways, or to the back or front may also occur.The turning or tilting movements may be accompanied by shaking movement (tremor) and/or soreness of the muscles of the neck and shoulders.Cervical dystonia can occur at any age, but most cases occur in middle age. It often begins slowly and usually reaches a plateau over a few months or years. The cause of cervical dystonia is often unknown. In some cases there is a family history. Several genes have been associated with cervical dystonia, including GNAL, THAP1, CIZ1, and ANO3. Other cases may be linked to an underlying disease (e.g. Parkinson disease), neck trauma, or certain medications. Treatment may include local injections of botulinum toxin, pain medications, benzodiazepines (anti-anxiety medications), anticholinergics,physical therapy, or surgery.	ORPHA:93962|SNOMEDCT:74333002|DOID:0050840|NCIT:C85072
MONDO:0024430	allesthesia	biolink:Disease	mondo	MESH:D066190		Dyschirias|Alloesthesias|Allachesthesia|allochiria|Allesthesias|Allachesthesias|Alloesthesia|dyschiria|false allochiria	http://purl.obolibrary.org/obo/MONDO_0024430	A neurological disorder in which a sensory stimulus, usually tactile but more rarely other sensory modalities, is misperceived in a location distant from the original stimulus.	MESH:D066190
MONDO:0000480	anismus	biolink:Disease	mondo	DOID:0050839|UMLS:C0267601|ICD9:569.49|SCTID:83605009		dyssynergic defecation|spastic pelvic floor syndrome|puborectalis syndrome|focal dystonia of anal region skeletal muscle|anal region skeletal muscle focal dystonia|dyskinetic puborectalis|sphincteric disobedience syndrome|rectosphincteric dyssynergia	http://purl.obolibrary.org/obo/MONDO_0000480	A focal dystonia of the pelvic floor muscles during attempted defecation.	UMLS:C0267601|SNOMEDCT:83605009|DOID:0050839
MONDO:0012454	alcohol sensitivity, acute	biolink:Disease	mondo	OMIM:610251|GARD:0012634	gard_rare	alcohol intolerance|acute alcohol sensitivity|alcohol sensitivity, acute|Hangover, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0012454	Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently, usually found in Asians. These individuals accumulate acetaldehyde, the primary metabolite of ethanol, because of a genetic polymorphism of aldehyde dehydrogenase (ALDH) that metabolizes acetaldehyde to nontoxic acetate. The only way to prevent alcohol intolerance reactions is to avoid alcohol. Alcohol intolerance isn't an allergy. However, in some cases, what seems to be alcohol intolerance may be a reaction to something in an alcoholic beverage, such as chemicals, grains or preservatives. Combining alcohol with certain medications also can cause reactions. In rare instances, an unpleasant reaction to alcohol can be a sign of a serious underlying health problem that requires diagnosis and treatment.	http://identifiers.org/omim/610251
MONDO:0012455	Kleefstra syndrome	biolink:Disease	mondo	UMLS:C0795833|MESH:C563043|ICD10:Q87.8|DOID:0060352|OMIMPS:610253|GARD:0008672|NCIT:C129976|Orphanet:261494|SCTID:724207001	prototype_pattern|gard_rare|ordo_malformation_syndrome	9q subtelomeric deletion syndrome|9q34 deletion syndrome|Kleefstra syndrome|9Q- syndrome|9q-syndrome|chromosome 9q deletion syndrome|9Q subtelomeric deletion syndrome|chromosome 9Q34.3 deletion syndrome|9q34.3 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0012455	Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features.	NCIT:C129976|MESH:C563043|DOID:0060352|SNOMEDCT:724207001|ORPHA:261494|UMLS:C0795833
HP:0001894	Thrombocytosis	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:6631009|SNOMEDCT_US:415115007|MSH:D013922|UMLS:C0857460|UMLS:C0836924		Increased platelet count|Thrombocythemia|Increased number of platelets in blood|Thrombocythaemia	http://purl.obolibrary.org/obo/HP_0001894	Increased numbers of platelets in the peripheral blood.	
MONDO:0012452	autosomal recessive nonsyndromic deafness 65	biolink:Disease	mondo	MESH:C565211|OMIM:610248|UMLS:C1853248|DOID:0110516|ICD10:H90.3		deafness, autosomal recessive 65; DFNB65|autosomal recessive deafness 65|deafness, autosomal recessive 65|autosomal recessive nonsyndromic deafness type 65|DFNB65	http://purl.obolibrary.org/obo/MONDO_0012452	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 20q13.2-q13.3.	UMLS:C1853248|DOID:0110516|MESH:C565211|http://identifiers.org/omim/610248
MONDO:0012453	hereditary spastic paraplegia 31	biolink:Disease	mondo	UMLS:C1853247|MESH:C565210|ICD10:G11.4|OMIM:610250|GARD:0010817|DOID:0110782|SCTID:763068005|Orphanet:101011	ordo_disease	autosomal dominant spastic paraplegia 31|REEP1 hereditary spastic paraplegia|autosomal dominant spastic paraplegia type 31|SPG31|hereditary spastic paraplegia caused by mutation in REEP1|spastic paraplegia 31, autosomal dominant|spastic paraplegia 31|spastic paraplegia 31, autosomal dominant; SPG31|hereditary spastic paraplegia type 31	http://purl.obolibrary.org/obo/MONDO_0012453	A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.	UMLS:C1853247|DOID:0110782|ORPHA:101011|SNOMEDCT:763068005|MESH:C565210|http://identifiers.org/omim/610250
HP:0001892	Abnormal bleeding	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:64779008|SNOMEDCT_US:248250000|UMLS:C1458140		Bleeding tendency|Hemorrhagic diathesis|Bleeding diathesis	http://purl.obolibrary.org/obo/HP_0001892	An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.	
MONDO:0012458	hypertension, essential, susceptibility to, 5	biolink:Disease	mondo	OMIM:610261	predisposition	hypertension, essential, susceptibility to, type 5|Hyt5|hypertension, essential, susceptibility to, 5|hypertension, essential, body Mass-related	http://purl.obolibrary.org/obo/MONDO_0012458		http://identifiers.org/omim/610261
MONDO:0012459	hypertension, essential, susceptibility to, 6	biolink:Disease	mondo	OMIM:610262	predisposition	hypertension, essential, susceptibility to, type 6|Hyt6|hypertension, essential, kidney function-related|hypertension, essential, susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0012459		http://identifiers.org/omim/610262
HGNC:33425	MIAT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/33425		
MONDO:0012456	congenital primary aphakia	biolink:Disease	mondo	OMIM:610256|MESH:C537786|SCTID:35387008|MedDRA:10002947|NCIT:C35172|ICD9:743.35|DOID:11367|Orphanet:83461|GARD:0009952|ICD10:Q12.3	ordo_malformation_syndrome	congenital aphakia|CPA|ASGD2|aphakia, congenital primary|congenital absence of lens|anterior segment dysgenesis 2|anterior segment dysgenesis 2; ASGD2	http://purl.obolibrary.org/obo/MONDO_0012456	Congenital primary aphakia (CPA) is characterised by an absence of the lens. The prevalence is unknown. CPA can be associated with variable secondary ocular defects (including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, and in some cases absence of the iris, retinal dysplasia, or sclerocornea). CPA results from early developmental arrest, around the 4th-5th week of embryogenesis, which prevents the formation of any lens structure. Mutations in the FOXE3 gene were identified in three affected siblings born to consanguineous parents.	MESH:C537786|http://identifiers.org/omim/610256|ORPHA:83461|UMLS:C1853230|DOID:11367|MEDDRA:10002947|NCIT:C35172|SNOMEDCT:35387008
MONDO:0012457	IHPS2	biolink:Disease	mondo	OMIM:610260|MESH:C565208|UMLS:C1853228		pyloric stenosis, infantile hypertrophic, 2|IHPS2|pyloric stenosis, infantile hypertrophic, 2; IHPS2	http://purl.obolibrary.org/obo/MONDO_0012457		MESH:C565208|http://identifiers.org/omim/610260|UMLS:C1853228
MONDO:0024429	Alice in wonderland syndrome	biolink:Disease	mondo	NCIT:C116362|MESH:D062026			http://purl.obolibrary.org/obo/MONDO_0024429	A disorienting neuropsychological condition that affects perception. People experience size distortion such as micropsia, macropsia, pelopsia, or teleopsia. Size distortion may occur of other sensory modalities.	NCIT:C116362|MESH:D062026
ENVO:01001154	volatile astrogeological material	biolink:OntologyClass	mondo			volatile	http://purl.obolibrary.org/obo/ENVO_01001154	A material which is composed primarily of chemical elements and compounds with relatively low boiling points, equilibrium condensation temperatures below 1300 Kelvin, and which are part of the crust or atmosphere of a moon or planet.	
ENVO:01001155	astrogeological gas	biolink:OntologyClass	mondo			gas	http://purl.obolibrary.org/obo/ENVO_01001155	An astrogeological volatile which is composed primarily of chemical compounds with boiling points around those of hydrogen and helium.	
MONDO:0012450	spinocerebellar ataxia type 28	biolink:Disease	mondo	OMIM:610246|UMLS:C1853249|SCTID:715824008|ICD10:G11.1|DOID:0050977|MESH:C537205|GARD:0009951|UMLS:C4274988|Orphanet:101109	ordo_disease	spinocerebellar ataxia 28|SCA28|spinocerebellar ataxia type 28|spinocerebellar ataxia 28; SCA28	http://purl.obolibrary.org/obo/MONDO_0012450	Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.	DOID:0050977|UMLS:C1853249|ORPHA:101109|SNOMEDCT:715824008|MESH:C537205|UMLS:C4274988|http://identifiers.org/omim/610246
MONDO:0012451	EOE1	biolink:Disease	mondo	OMIM:610247		EOE1|esophagitis, eosinophilic|esophagitis, eosinophilic, 1|esophagitis, eosinophilic, 1; EOE1	http://purl.obolibrary.org/obo/MONDO_0012451		http://identifiers.org/omim/610247
MONDO:0024421	short stature contractures hypotonia	biolink:Disease	mondo	GARD:0004839	gard_rare	Hennekam Koss de Geest syndrome	http://purl.obolibrary.org/obo/MONDO_0024421		
MONDO:0000454	obsolete multiple synostoses syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000454		
MONDO:0000453	short QT syndrome	biolink:Disease	mondo	NCIT:C71060|SCTID:698272007|MESH:C580439|ICD9:426.89|DOID:0050793|Orphanet:51083|UMLS:C2348199|OMIMPS:609620|ICD10:I49.8	prototype_pattern|ordo_disease	familial short QT syndrome|ventricular arrhythmia associated with short QT syndrome	http://purl.obolibrary.org/obo/MONDO_0000453	A genetic disease of the electrical system of the heart that consists of a constellation of signs and symptoms, consisting of a short QT interval on an EKG (< 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. Short QT syndrome appears to be inherited in an autosomal dominant pattern, and a few affected families have been identified	DOID:0050793|MESH:C580439|NCIT:C71060|UMLS:C2348199|ORPHA:51083|SNOMEDCT:698272007
MONDO:0000452	progressive relapsing multiple sclerosis	biolink:Disease	mondo	DOID:0050785|UMLS:C0393666|SCTID:230374002		progressive-relapsing MS|PRMS	http://purl.obolibrary.org/obo/MONDO_0000452	A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset.	DOID:0050785|SNOMEDCT:230374002|UMLS:C0393666
MONDO:0024422	auditory perceptual disorders	biolink:Disease	mondo	SCTID:229752008|MESH:D001308|NCIT:C84575|UMLS:C0751257		auditory processing disorders|comprehension disorder, auditory|disorder of sensory perception of sound|perceptual disorder, acoustic|Inattentions, auditory|disorders, Psychoacoustical|inattention, auditory|auditory processing disorder|perceptual disorders, acoustic|disorders, auditory comprehension|comprehension disorders, auditory|acoustic perceptual disorder|disorder, Psychoacoustical|disorder, acoustic perceptual|processing disorders, auditory|Psychoacoustical disorders|sensory perception of sound disease|auditory inattention|disorder, auditory processing|disorders, acoustic perceptual|disorder, auditory comprehension|perceptual disorder, auditory|auditory comprehension disorders|auditory comprehension disorder|disorders, auditory processing|perceptual disorders, auditory|disorder of sensory perception of sound|auditory Inattentions|auditory perceptual disorder|Psychoacoustical disorder|acoustic perceptual disorders|processing disorder, auditory	http://purl.obolibrary.org/obo/MONDO_0024422	Acquired or developmental cognitive disorders of AUDITORY PERCEPTION characterized by a reduced ability to perceive information contained in auditory stimuli despite intact auditory pathways. Affected individuals have difficulty with speech perception, sound localization, and comprehending the meaning of inflections of speech.	SNOMEDCT:229752008|UMLS:C0751257|NCIT:C84575|MESH:D001308
MONDO:0000451	primary progressive multiple sclerosis	biolink:Disease	mondo	DOID:0050784|UMLS:C0751964|EFO:0008520|SCTID:428700003		primary-progressive MS|PPMS	http://purl.obolibrary.org/obo/MONDO_0000451	A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous.	DOID:0050784|UMLS:C0751964|SNOMEDCT:428700003
MONDO:0000458	proneural glioblastoma	biolink:Disease	mondo	UMLS:C3828464|NCIT:C111692|DOID:0050804		glioblastoma proneural subtype|proneural glioblastoma	http://purl.obolibrary.org/obo/MONDO_0000458	A molecular subtype of glioblastoma that is associated with younger age at presentation and is characterized by p53 mutations and PDGFRa amplifications.	UMLS:C3828464|DOID:0050804|NCIT:C111692
GO:0110111	negative regulation of animal organ morphogenesis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0110111	Any process that stops, prevents, or reduces the frequency, rate or extent of animal organ morphogenesis.	
HGNC:21424	IFT74	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21424		
MONDO:0000457	classical glioblastoma	biolink:Disease	mondo	NCIT:C111694|UMLS:C3827253|DOID:0050803		classical glioblastoma|glioblastoma classical subtype	http://purl.obolibrary.org/obo/MONDO_0000457	A molecular subtype of glioblastoma characterized by lack of p53 mutations, chromosome 7 amplifications or deletions, and high levels of EGFR amplification.	UMLS:C3827253|DOID:0050803|NCIT:C111694
MONDO:0000456	cerebral creatine deficiency syndrome	biolink:Disease	mondo	DOID:0050798|Orphanet:79172|UMLS:CN227588|OMIMPS:300352|ICD10:E72.8	ordo_group_of_disorders	CDS|CCDS|creatine deficiency syndrome|cerebral creatine deficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0000456	Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency.	ORPHA:79172|DOID:0050798|UMLS:CN227588
MONDO:0000455	cone dystrophy	biolink:Disease	mondo	GARD:0011897|Orphanet:1871|DOID:0050795|SCTID:312917007|UMLS:C0730290|ICD10:H35.5|ICD9:362.75	ordo_disease	cone dystrophy|progressive cone dystrophy|retinal cone dystrophy|stationary cone dystrophy	http://purl.obolibrary.org/obo/MONDO_0000455	An inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.	ORPHA:1871|DOID:0050795|UMLS:C0730290|UMLS:C0271092|SNOMEDCT:312917007
GO:0110110	positive regulation of animal organ morphogenesis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0110110	Any process that activates or increases the frequency, rate or extent of animal organ morphogenesis.	
MONDO:0012438	pontocerebellar hypoplasia type 5	biolink:Disease	mondo	UMLS:C1857762|SCTID:718607001|MESH:C537745|ICD10:Q04.3|GARD:0010709|DOID:0060274|Orphanet:166068|OMIM:610204	gard_rare|ordo_malformation_syndrome	pontocerebellar hypoplasia, type 5|pontocerebellar hypoplasia, type 5; PCH5|olivopontocerebellar hypoplasia, fetal-onset|fetal-onset olivopontocerebellar hypoplasia|PCH5|olivopontocerebellar hypoplasia fetal-onset	http://purl.obolibrary.org/obo/MONDO_0012438	Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5.	UMLS:C1857762|SNOMEDCT:718607001|MESH:C537745|http://identifiers.org/omim/610204|DOID:0060274|ORPHA:166068
MONDO:0012439	Alagille syndrome due to a NOTCH2 point mutation	biolink:Disease	mondo	Orphanet:261629|ICD10:Q44.7|UMLS:C1857761|OMIM:610205	ordo_etiological_subtype	Alagille syndrome 2|Alagille syndrome type 2|Alagille syndrome 2; ALGS2|Alagille-Watson syndrome due to a NOTCH2 point mutation|Arteriohepatic dysplasia due to a NOTCH2 point mutation|syndromic bile duct paucity due to a NOTCH2 point mutation|ALGS2	http://purl.obolibrary.org/obo/MONDO_0012439		ORPHA:261629|UMLS:C1857761|http://identifiers.org/omim/610205
MONDO:0000450	secondary progressive multiple sclerosis	biolink:Disease	mondo	DOID:0050783|EFO:0008522|UMLS:C0751965|SCTID:425500002		secondary-progressive MS|SPMS	http://purl.obolibrary.org/obo/MONDO_0000450	A multiple sclerosis with a clinical course characterized by a progressive accumulation of neurological disability, independent of relapses, following an initial relapsing-remitting (RR) phase.	DOID:0050783|UMLS:C0751965|SNOMEDCT:425500002
MONDO:0012443	ANIB4	biolink:Disease	mondo	UMLS:C1857749|MESH:C565700|OMIM:610213		aneurysm, intracranial BERRY, 4|ANIB4|aneurysm, intracranial BERRY, 4; ANIB4	http://purl.obolibrary.org/obo/MONDO_0012443		http://identifiers.org/omim/610213|MESH:C565700|UMLS:C1857749
MONDO:0012444	neurodegeneration with brain iron accumulation 2B	biolink:Disease	mondo	DOID:0110736|OMIM:610217|ICD10:G23.0|GARD:0010688		neurodegeneration with brain iron accumulation type 2b|neurodegeneration with brain iron accumulation, Pla2g6-related|neurodegeneration with brain iron accumulation 2B; NBIA2B|Karak syndrome|atypical neuroaxonal dystrophy|neurodegeneration with brain iron accumulation 2B|NBIA2B|NBIA2b|neurodegeneration with brain iron accumulation type 2B|neurodegeneration with brain iron accumulation, Pla2G6-related|early-onset progressive cerebellar ataxia dystonia spasticity and intellectual decline|neuroaxonal dystrophy, atypical	http://purl.obolibrary.org/obo/MONDO_0012444		http://identifiers.org/omim/610217|DOID:0110736
MONDO:0012441	migraine with or without aura, susceptibility to, 11	biolink:Disease	mondo	OMIM:610209	predisposition	migraine with or without aura, susceptibility to, 11|Mgr11|migraine with or without aura, susceptibility to, type 11	http://purl.obolibrary.org/obo/MONDO_0012441		http://identifiers.org/omim/610209
MONDO:0012442	autosomal recessive nonsyndromic deafness 66	biolink:Disease	mondo	UMLS:C1857750|ICD10:H90.3|OMIM:610212|MESH:C565701|DOID:0110517		DFNB66|autosomal recessive deafness 66|DCDC2 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 66|autosomal recessive nonsyndromic deafness caused by mutation in DCDC2|deafness, autosomal recessive type 66|deafness, autosomal recessive 66; DFNB66|deafness, autosomal recessive 66	http://purl.obolibrary.org/obo/MONDO_0012442	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the DCDC2 gene.	http://identifiers.org/omim/610212|MESH:C565701|DOID:0110517|UMLS:C1857750
MONDO:0012447	synpolydactyly type 3	biolink:Disease	mondo	UMLS:C1853255|ICD10:Q70.2|ICD10:Q70.0|Orphanet:295199|OMIM:610234|MESH:C565216	ordo_clinical_subtype	SD2, Malik type|synpolydactyly 3; SPD3|SD2c|SPD3|synpolydactyly 3|SPD, Malik type|synpolydactyly, Malik type	http://purl.obolibrary.org/obo/MONDO_0012447		MESH:C565216|ORPHA:295199|http://identifiers.org/omim/610234|UMLS:C1853255
MONDO:0012448	hereditary spastic paraplegia 33	biolink:Disease	mondo	UMLS:C1853251|MESH:C565214|OMIM:610244|DOID:0110784		spastic paraplegia 33, autosomal dominant|hereditary spastic paraplegia type 33|autosomal dominant spastic paraplegia 33|spastic paraplegia 33, autosomal dominant; SPG33|SPG33|ZFYVE27 hereditary spastic paraplegia|hereditary spastic paraplegia caused by mutation in ZFYVE27	http://purl.obolibrary.org/obo/MONDO_0012448	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ZFYVE27 gene.	MESH:C565214|http://identifiers.org/omim/610244|DOID:0110784|UMLS:C1853251
MONDO:0012445	autosomal recessive nonsyndromic deafness 59	biolink:Disease	mondo	MESH:C565698|OMIM:610220|DOID:0110511|UMLS:C1857744|ICD10:H90.3		deafness, autosomal recessive 59; DFNB59|deafness, autosomal recessive type 59|autosomal recessive nonsyndromic deafness caused by mutation in PJVK|DFNB59|deafness, autosomal recessive 59|autosomal recessive deafness 59|PJVK autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 59	http://purl.obolibrary.org/obo/MONDO_0012445	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PJVK gene.	UMLS:C1857744|http://identifiers.org/omim/610220|MESH:C565698|DOID:0110511
MONDO:0012446	seborrhea-like dermatitis with psoriasiform elements	biolink:Disease	mondo	UMLS:C1853258|Orphanet:168606|OMIM:610227|MESH:C565217	ordo_disease	seborrhea-like dermatitis with psoriasiform elements	http://purl.obolibrary.org/obo/MONDO_0012446		MESH:C565217|http://identifiers.org/omim/610227|UMLS:C1853258|ORPHA:168606
MONDO:0024418	muscular fibrosis multifocal obstructed vessels	biolink:Disease	mondo	Orphanet:2033|GARD:0003857	gard_rare		http://purl.obolibrary.org/obo/MONDO_0024418		ORPHA:2033
MONDO:0024417	perceptual disorders	biolink:Disease	mondo	MESH:D010468			http://purl.obolibrary.org/obo/MONDO_0024417	Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body.	MESH:D010468
MONDO:0000449	obsolete Opitz-GBBB syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000449		
MONDO:0024419	enthesitis	biolink:Disease	mondo	SCTID:359643005|NCIT:C114470|UMLS:C1282952		inflammatory enthesopathy|enthesitis|inflammation of enthesis|enthesis inflammation	http://purl.obolibrary.org/obo/MONDO_0024419	Inflammation at the site of insertion of ligaments, tendons, and other fibrous structures into bone.	UMLS:C1282952|NCIT:C114470|SNOMEDCT:359643005
MONDO:0000448	paraganglioma	biolink:Disease	mondo	EFO:1000453|ICD9:239.7|NCIT:C3308|OMIMPS:168000|DOID:0050773|ICDO:8680/1|SCTID:127027008|ONCOTREE:PGNG|MESH:D010235|UMLS:C0030421		paraganglioma|chemodectoma|paragangliomas|neoplasm of paraganglion|neoplasm of the paraganglion|Paraganglionic neoplasm|paraganglion tumor|paraganglion neoplasm|Paraganglionic tumor|tumor of paraganglion|tumor of the paraganglion	http://purl.obolibrary.org/obo/MONDO_0000448	A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases.	UMLS:C0030421|SNOMEDCT:127027008|DOID:0050773|MESH:D010235|NCIT:C3308
MONDO:0012440	migraine with or without aura, susceptibility to, 10	biolink:Disease	mondo	OMIM:610208	predisposition	migraine with or without aura, susceptibility to, 10|migraine with pulsation|Mgr10|migraine with or without aura, susceptibility to, type 10	http://purl.obolibrary.org/obo/MONDO_0012440		http://identifiers.org/omim/610208
MONDO:0000465	atrioventricular block (disease)	biolink:Disease	mondo	ICD9:426.10|HP:0001678|ICD10:I44.30|UMLS:C0004245|ICD10:I44.3|COHD:316135|MESH:D054537|DOID:0050820|SCTID:233917008		atrioventricular block|AVB|AV block|AV nodal block	http://purl.obolibrary.org/obo/MONDO_0000465	A heart block that is initiated in the atrioventricular node.	MESH:D054537|DOID:0050820|UMLS:C0004245|NCIT:C26703|SNOMEDCT:233917008
MONDO:0024410	infection caused by Bifidobacterium	biolink:Disease	mondo	SCTID:721759009|UMLS:C1096283		infection caused by Bifidobacterium|Bifidobacterium infection|Bifidobacterium disease or disorder|Bifidobacterium infectious disease|Bifidobacterium caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0024410	A disease caused by infection with Bifidobacterium.	UMLS:C1096283|SNOMEDCT:721759009
MONDO:0000464	obsolete Stargardt disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000464		
MONDO:0000463	Ochoa syndrome	biolink:Disease	mondo	Orphanet:2704|MESH:C536480|DOID:0050816|SCTID:236533008|GARD:0000104|ICD10:N31.8|OMIMPS:236730	gard_rare|ordo_malformation_syndrome	UFS|hydronephrosis-inverted smile syndrome|inverted smile and occult neuropathic bladder|partial facial palsy with urinary abnormalities|urofacial syndrome|Ochoa syndrome|urofacial Ochoa's syndrome|inverted smile-neurogenic bladder syndrome|hydronephrosis with peculiar facial expression	http://purl.obolibrary.org/obo/MONDO_0000463	Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression.	MESH:C536480|DOID:0050816|UMLS:C0403555|SNOMEDCT:236533008|ORPHA:2704
MONDO:0024412	Peptostreptococcus infectious disease	biolink:Disease	mondo	ICD9:041.84|SCTID:135341000119101|UMLS:C1096562		Peptostreptococcus infection|Peptostreptococcus caused disease or disorder|Peptostreptococcus disease or disorder	http://purl.obolibrary.org/obo/MONDO_0024412	A disease caused by infection with Peptostreptococcus.	SNOMEDCT:135341000119101|UMLS:C1096562
MONDO:0000462	eye adnexa disease	biolink:Disease	mondo	DOID:0050815|SCTID:118941004|UMLS:C1290855|ICD10:H00.H06		disorder of ocular adnexa|ocular adnexa disease|disease or disorder of ocular adnexa|ocular adnexa disease or disorder|disease of ocular adnexa	http://purl.obolibrary.org/obo/MONDO_0000462	A disease involving the ocular adnexa.	DOID:0050815|SNOMEDCT:118941004|UMLS:C1290855
MONDO:0000469	sinoatrial node disease	biolink:Disease	mondo	DOID:0050824		sinuatrial node|disease of sinoatrial node|sinoatrial node disease or disorder|disorder of sinoatrial node|sinoatrial node disease|SA node|disease or disorder of sinoatrial node	http://purl.obolibrary.org/obo/MONDO_0000469	A disease involving the sinoatrial node.	DOID:0050824
MONDO:0024414	anaerobic cellulitis	biolink:Disease	mondo	ICD9:041.84|UMLS:C0241828|ICD9:682.9|SCTID:238401006		anaerobic cellulitis	http://purl.obolibrary.org/obo/MONDO_0024414		UMLS:C0241828|SNOMEDCT:238401006
MONDO:0000468	third-degree atrioventricular block	biolink:Disease	mondo	ICD9:426.0|UMLS:C0151517|NCIT:C50501|SCTID:27885002|DOID:0050823		complete AV block|atrioventricular block, third degree|complete atrioventricular block|third degree AV block|complete heart block|AV block third degree|non-congenital complete atrioventricular block|atrioventricular block complete|third degree atrioventricular block	http://purl.obolibrary.org/obo/MONDO_0000468	A disorder characterized by an electrocardiographic finding of complete failure of atrial electrical impulse conduction to the ventricles. This is manifested on the ECG by disassociation of atrial and ventricular rhythms. The atrial rate must be faster than the ventricular rate. (CDISC)	SNOMEDCT:27885002|NCIT:C50501|DOID:0050823|UMLS:C0151517
MONDO:0000467	second-degree atrioventricular block	biolink:Disease	mondo	UMLS:C0264906|SCTID:195042002|ICD9:426.13|NCIT:C111119|COHD:318448|UMLS:C1621824|DOID:0050822		second-degree heart block|atrioventricular block second degree|second degree atrioventricular block|atrioventricular block, second degree|AV block second degree|second degree AV block	http://purl.obolibrary.org/obo/MONDO_0000467	Intermittent failure of atrial electrical impulse conduction to the ventricles.	SNOMEDCT:195042002|UMLS:C1621824|DOID:0050822|UMLS:C0264906|NCIT:C111119
MONDO:0024416	Neorickettsia infectious disease	biolink:Disease	mondo	UMLS:C0276121|SCTID:78355003		neorickettsiosis|Neorickettsia caused disease or disorder|Neorickettsia disease or disorder	http://purl.obolibrary.org/obo/MONDO_0024416	A disease caused by infection with Neorickettsia.	UMLS:C0276121|SNOMEDCT:78355003
MONDO:0000466	first-degree atrioventricular block	biolink:Disease	mondo	ICD9:426.11|UMLS:C0085614|COHD:314379|NCIT:C62015|DOID:0050821|SCTID:270492004		first degree atrioventricular block|AV block first degree|atrioventricular block, first degree|first degree AV block|atrioventricular block first degree	http://purl.obolibrary.org/obo/MONDO_0000466	A disorder characterized by an electrocardiographic finding of prolonged PR interval for a specific population. For adults one common threshold is a PR interval greater than 0.20 seconds.	NCIT:C62015|DOID:0050821|SNOMEDCT:270492004|UMLS:C0085614
MONDO:0024415	hemorrhagic duodenitis	biolink:Disease	mondo	UMLS:C0341245|SCTID:95531001|ICD9:535.61		multiple duodenal erosions|hemorrhagic duodenitis|erosive duodenitis	http://purl.obolibrary.org/obo/MONDO_0024415		UMLS:C0341245|SNOMEDCT:95531001
MONDO:0012429	Aicardi-Goutieres syndrome 2	biolink:Disease	mondo	OMIM:610181|UMLS:C3489724|GARD:0010894		AGS2|Aicardi-Goutieres syndrome type 2|Aicardi-Goutieres syndrome 2|Aicardi-Goutieres syndrome 2; AGS2|RNASEH2B Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome caused by mutation in RNASEH2B|RNASEH2B-related Aicardi-Goutieres syndrome	http://purl.obolibrary.org/obo/MONDO_0012429	Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2B gene.	http://identifiers.org/omim/610181|UMLS:C3489724
HP:0001879	Abnormal eosinophil morphology	biolink:PhenotypicFeature	mondo	UMLS:C4025738		Abnormality of eosinophils	http://purl.obolibrary.org/obo/HP_0001879	An abnormal count or structure of eosinophils.	
HP:0001877	Abnormal erythrocyte morphology	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:12222001|UMLS:C4020862|UMLS:C0391870		Abnormality of red blood cells|Abnormality of erythroid lineage cell|Abnormality of erythrocytes	http://purl.obolibrary.org/obo/HP_0001877	Any structural abnormality of erythrocytes (red-blood cells).	
MONDO:0012427	Loeys-Dietz syndrome 2	biolink:Disease	mondo	DOID:0070234|GARD:0010586|OMIM:610168|MESH:C537783|NCIT:C114768		Loeys-Dietz syndrome type II|aortic aneurysm, familial thoracic 3|Loeys-Dietz syndrome 2|Loeys-Dietz syndrome 2; LDS2|Marfan syndrome, type II, formerly|Loeys-Dietz syndrome type 2|LDS2|Marfan syndrome, type II|Loeys-Dietz syndrome caused by mutation in TGFBR2|TGFBR2 Loeys-Dietz syndrome	http://purl.obolibrary.org/obo/MONDO_0012427	A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2.	http://identifiers.org/omim/610168|MESH:C537783|NCIT:C114768|DOID:0070234
MONDO:0012428	KYPSC1	biolink:Disease	mondo	OMIM:610170|MESH:C565711|UMLS:C1857795		kyphoscoliosis 1; KYPSC1|KYPSC1|kyphoscoliosis 1	http://purl.obolibrary.org/obo/MONDO_0012428		UMLS:C1857795|http://identifiers.org/omim/610170|MESH:C565711
HP:0001878	Hemolytic anemia	biolink:PhenotypicFeature	mondo	MSH:D000743|UMLS:C0002878|SNOMEDCT_US:61261009		Hemolytic anaemia|Haemolytic anaemia|Increased hemolysis	http://purl.obolibrary.org/obo/HP_0001878	A type of anemia caused by premature destruction of red blood cells (hemolysis).	
MONDO:0000461	nutritional biotin deficiency	biolink:Disease	mondo	MESH:C531633|SCTID:49607006|DOID:0050810		vitamine B7 deficiency|biotin deficiency disease|biotin deficiency|B7 deficiency	http://purl.obolibrary.org/obo/MONDO_0000461		DOID:0050810|SNOMEDCT:49607006|MESH:C531633
MONDO:0000460	neural glioblastoma	biolink:Disease	mondo	DOID:0050806|UMLS:C3828832|NCIT:C111693		neural glioblastoma|glioblastoma neural subtype	http://purl.obolibrary.org/obo/MONDO_0000460	A molecular subtype of glioblastoma characterized by the expression of the neural markers NEFL, GABRA1, SYT1, and SLC12A5.	DOID:0050806|NCIT:C111693|UMLS:C3828832
MONDO:0012432	Joubert syndrome 5	biolink:Disease	mondo	UMLS:C1857780|MESH:C537688|OMIM:610188|DOID:0111000		Joubert syndrome 5; JBTS5|CEP290 Joubert syndrome|JBTS5|Joubert syndrome 5|Joubert syndrome caused by mutation in CEP290|Joubert syndrome type 5	http://purl.obolibrary.org/obo/MONDO_0012432	Any Joubert syndrome in which the cause of the disease is a mutation in the CEP290 gene.	UMLS:C1857780|DOID:0111000|MESH:C537688|http://identifiers.org/omim/610188
HP:0001871	Abnormality of blood and blood-forming tissues	biolink:PhenotypicFeature	mondo	UMLS:C4020864|SNOMEDCT_US:191124002|SNOMEDCT_US:34093004|UMLS:C0018939|UMLS:C0850715|MSH:D006402		Hematologic disease|Abnormality of the hematopoietic system|Abnormality of the haematopoietic system|Hematological abnormality|Abnormality of blood and blood-forming tissues	http://purl.obolibrary.org/obo/HP_0001871	An abnormality of the hematopoietic system.	
HP:0001872	Abnormal thrombocyte morphology	biolink:PhenotypicFeature	mondo	MSH:D013915|UMLS:C4020863|SNOMEDCT_US:32942005|UMLS:C0151854|UMLS:C0040015|SNOMEDCT_US:127566005		Thrombasthenia|Blood platelet disease|Platelet abnormalities	http://purl.obolibrary.org/obo/HP_0001872	An abnormality of platelets.	
MONDO:0012433	Senior-Loken syndrome 6	biolink:Disease	mondo	OMIM:610189|MESH:C565708|UMLS:C1857779		SENIOR-Loken syndrome 6; SLSN6|Senior-Loken syndrome 6|SLSN6|Senior-Loken syndrome caused by mutation in CEP290|CEP290 Senior-Loken syndrome|Senior-Loken syndrome type 6	http://purl.obolibrary.org/obo/MONDO_0012433	Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 gene.	UMLS:C1857779|http://identifiers.org/omim/610189|MESH:C565708
MONDO:0012430	cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2	biolink:Disease	mondo	MESH:C567656|UMLS:C2750234|OMIM:610185		dysequilibrium syndrome caused by mutation in WDR81|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 2|cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2|cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 2|cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2; CAMRQ2|CAMRQ2|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2; CAMRQ2|WDR81 dysequilibrium syndrome|cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 2|cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2	http://purl.obolibrary.org/obo/MONDO_0012430	Any dysequilibrium syndrome in which the cause of the disease is a mutation in the WDR81 gene.	http://identifiers.org/omim/610185|UMLS:C2750234|MESH:C567656
MONDO:0012431	diaphragmatic hernia 3	biolink:Disease	mondo	OMIM:610187|MESH:C565710		diaphragmatic hernia 3; DIH3|ZFPM2 congenital diaphragmatic hernia|congenital diaphragmatic hernia caused by mutation in ZFPM2|diaphragmatic hernia 3|diaphragmatic hernia type 3|DIH3	http://purl.obolibrary.org/obo/MONDO_0012431	Any congenital diaphragmatic hernia in which the cause of the disease is a mutation in the ZFPM2 gene.	http://identifiers.org/omim/610187|MESH:C565710
MONDO:0012436	neonatal diabetes mellitus with congenital hypothyroidism	biolink:Disease	mondo	Orphanet:79118|OMIM:610199|MESH:C565705|DOID:0060638|UMLS:C1857775	ordo_disease	diabetes mellitus, neonatal, with congenital hypothyroidism; NDH|NDH syndrome|neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome|diabetes mellitus, neonatal, with congenital hypothyroidism|NDH|Ndh syndrome	http://purl.obolibrary.org/obo/MONDO_0012436	A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others	UMLS:C1857775|http://identifiers.org/omim/610199|MESH:C565705|ORPHA:79118|DOID:0060638
MONDO:0012437	cataract 21 multiple types	biolink:Disease	mondo	OMIM:610202|DOID:0110256|MESH:C565703|ICD10:Q12.0		CTRCT21|congenital cataract cerulean type 4|CCA4|cataract 21, multiple types; CTRCT21|cataract 21, multiple types|MAF early-onset non-syndromic cataract|cataract, congenital, cerulean type, 4|early-onset non-syndromic cataract caused by mutation in MAF|cataract 21, multiple types, with or without microcornea|cataract, pulverulent, juvenile-onset|cataract 21 multiple types with or without microcornea	http://purl.obolibrary.org/obo/MONDO_0012437	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MAF gene.	http://identifiers.org/omim/610202|DOID:0110256|MESH:C565703
HP:0001876	Pancytopenia	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:127034005|UMLS:C0030312|MSH:D010198		Low blood cell count	http://purl.obolibrary.org/obo/HP_0001876	An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).	
MONDO:0012434	arrhythmogenic right ventricular dysplasia 10	biolink:Disease	mondo	DOID:0110081|UMLS:C1857777|OMIM:610193|ICD10:I42.8|MESH:C565707		arrhythmogenic right ventricular dysplasia, familial, 10|DSG2 arrhythmogenic right ventricular cardiomyopathy|ARVD10|ARVC10|arrhythmogenic right ventricular dysplasia type 10|familial arrhythmogenic right ventricular dysplasia 10|arrhythmogenic right ventricular dysplasia, familial, 10; ARVD10|arrhythmogenic right ventricular cardiomyopathy caused by mutation in DSG2|arrhythmogenic right ventricular cardiomyopathy 10|arrhythmogenic right ventricular dysplasia, familial, type 10	http://purl.obolibrary.org/obo/MONDO_0012434	Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene.	UMLS:C1857777|http://identifiers.org/omim/610193|DOID:0110081|MESH:C565707
HP:0001873	Thrombocytopenia	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:302215000|SNOMEDCT_US:415116008|MSH:D013921|UMLS:C0040034|UMLS:C0392386		Low platelet count	http://purl.obolibrary.org/obo/HP_0001873	A reduction in the number of circulating thrombocytes.	
MONDO:0012435	3-methylglutaconic aciduria type 5	biolink:Disease	mondo	UMLS:C4039473|GARD:0010344|ICD10:E71.1|OMIM:610198|UMLS:C1857776|MESH:C565706|GARD:0012964|DOID:0110000|SCTID:711412004|Orphanet:66634	ordo_disease|gard_rare	MGA 5|3-methylglutaconic aciduria type 5|3-METHYLGLUTACONIC aciduria, type V|3 alpha methylglutaconic aciduria type V|DCMA syndrome|dilated cardiomyopathy with ataxia|3 methylglutaconic aciduria type V|DNAJC19 3-methylglutaconic aciduria|MGA5|3-methylglutaconic aciduria type V|3-methylglutaconic aciduria caused by mutation in DNAJC19|DCMA|MGCA5|3-Methylglutaconic aciduria, type 5|cardiomyopathy, dilated, with ataxia|Mga, type 5|MGA V|3-METHYLGLUTACONIC aciduria, type V; MGCA5	http://purl.obolibrary.org/obo/MONDO_0012435	Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.	UMLS:C1857776|DOID:0110000|http://identifiers.org/omim/610198|UMLS:C4039473|MESH:C565706|ORPHA:66634|SNOMEDCT:711412004
ENVO:01001176	environment associated with an aquatic invertebrate	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001176	An environment which has its properties and composition largely determined by the presence of a metazoan which lacks a vetebral column and which has a habitat that is found in an aquatic environmental system.	
MONDO:0000459	mesenchymal glioblastoma	biolink:Disease	mondo	NCIT:C111695|UMLS:C3829122|DOID:0050805		glioblastoma mesenchymal subtype|mesenchymal glioblastoma	http://purl.obolibrary.org/obo/MONDO_0000459	A molecular subtype of glioblastoma characterized by the presence of NF1 mutations.	UMLS:C3829122|DOID:0050805|NCIT:C111695
IAO:0000228	term imported	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/IAO_0000228		
IAO:0000229	term split	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/IAO_0000229		
UBERON:0035841	esophagogastric junction muscularis propria	biolink:AnatomicalEntity	mondo			gastro-esophageal junction muscularis propria	http://purl.obolibrary.org/obo/UBERON_0035841	muscularis propria from the lowest portion of the esophagus, just proximal to the stomach.	
GO:1905651	regulation of artery morphogenesis	biolink:OntologyClass	mondo			regulation of arterial morphogenesis|regulation of arteriogenesis	http://purl.obolibrary.org/obo/GO_1905651	Any process that modulates the frequency, rate or extent of artery morphogenesis.	
GO:1905652	negative regulation of artery morphogenesis	biolink:OntologyClass	mondo			down regulation of artery morphogenesis|downregulation of arterial morphogenesis|inhibition of artery morphogenesis|down-regulation of artery morphogenesis|downregulation of arteriogenesis|down regulation of arterial morphogenesis|inhibition of arterial morphogenesis|negative regulation of arterial morphogenesis|down-regulation of arterial morphogenesis|down regulation of arteriogenesis|inhibition of arteriogenesis|negative regulation of arteriogenesis|down-regulation of arteriogenesis|downregulation of artery morphogenesis	http://purl.obolibrary.org/obo/GO_1905652	Any process that stops, prevents or reduces the frequency, rate or extent of artery morphogenesis.	
HGNC:6511	LARGE1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6511		
HGNC:6512	LARS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6512		
UBERON:0011865	corneal stroma collagen fibril	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011865	The connective tissue bundles in the extracellular matrix of corneal stroma that are composed of collagen, and play a role in tissue strength and elasticity	
UBERON:0011864	tendon collagen fibril	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011864	The connective tissue bundles in the extracellular matrix of tendon tissue that are composed of collagen, and play a role in tissue strength and elasticity	
UBERON:0008229	craniocervical region musculature	biolink:AnatomicalEntity	mondo			head or neck muscle|head or neck muscle|head muscles	http://purl.obolibrary.org/obo/UBERON_0008229	Musculature system of the pharyngeal and head regions.	
UBERON:0035838	esophagogastric junction mucosa	biolink:AnatomicalEntity	mondo			gastro-esophageal junction mucosa	http://purl.obolibrary.org/obo/UBERON_0035838	mucosa from the lowest portion of the esophagus, just proximal to the stomach.	
UBERON:0035839	esophagogastric junction submucosa	biolink:AnatomicalEntity	mondo			gastro-esophageal junction submucosa	http://purl.obolibrary.org/obo/UBERON_0035839	submucosa from the lowest portion of the esophagus, just proximal to the stomach.	
GO:0002504	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II	biolink:OntologyClass	mondo			peptide or polysaccharide antigen processing and presentation of via MHC class II	http://purl.obolibrary.org/obo/GO_0002504	The process in which an antigen-presenting cell expresses antigen (peptide or polysaccharide) on its cell surface in association with an MHC class II protein complex.	
GO:0002507	tolerance induction	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002507	A process that directly activates any of the steps required for tolerance, a physiologic state in which the immune system does not react destructively against the components of an organism that harbors it or against antigens that are introduced to it.	
HGNC:6518	LBR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6518		
UBERON:0011863	bone collagen fibril	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011863	The connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity	
UBERON:0011862	pulmonary collagen fibril	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011862	The connective tissue bundles in the extracellular matrix of pulmonary tissue that are composed of collagen, and play a role in tissue strength and elasticity	
UBERON:0011861	aorta collagen fibril	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011861	The connective tissue bundles in the extracellular matrix of aorta tissue that are composed of collagen, and play a role in tissue strength and elasticity	
UBERON:0011860	collection of collagen fibrils	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0011860		
GO:1905653	positive regulation of artery morphogenesis	biolink:OntologyClass	mondo			up regulation of arteriogenesis|up-regulation of arterial morphogenesis|activation of arterial morphogenesis|upregulation of artery morphogenesis|up-regulation of arteriogenesis|activation of arteriogenesis|upregulation of arterial morphogenesis|up regulation of artery morphogenesis|upregulation of arteriogenesis|up-regulation of artery morphogenesis|positive regulation of arterial morphogenesis|activation of artery morphogenesis|up regulation of arterial morphogenesis|positive regulation of arteriogenesis	http://purl.obolibrary.org/obo/GO_1905653	Any process that activates or increases the frequency, rate or extent of artery morphogenesis.	
UBERON:0011856	acinus of lactiferous gland	biolink:AnatomicalEntity	mondo			lactiferous gland acinus	http://purl.obolibrary.org/obo/UBERON_0011856	An acinus that is part of a mammary gland.	
UBERON:0035845	enthesis	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0035845	The connective tissue between tendon and bone insertion sites, which acts to transmit tensile load from soft tissues to bone. They may be of the dense fibrous connective tissue or fibrocartilage type; fibrous entheses attach directly to bone or periosteum primarily via fibrous tissue, and fibrocartilaginous entheses attach to bone through a transitional layer of fibrocartilage from the fibrous tendon tissue the sites where tendons or ligaments insert into the bone. Recurring stress or inflammatory autoimmune disease can cause inflammation or occasionally fibrosis and calcification of the enthesis.	
HGNC:6522	LCAT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6522		
UBERON:0035847	fibrocartilage enthesis	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0035847		
UBERON:0035846	fibrous enthesis	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0035846		
HGNC:6524	LCK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6524		
UBERON:0011859	internal acoustic meatus	biolink:AnatomicalEntity	mondo			internal auditory canal|porus acusticus internus|internal acoustic meatus|internal acoustic canal|internal auditory meatus	http://purl.obolibrary.org/obo/UBERON_0011859	The internal auditory meatus (also internal acoustic meatus, internal auditory canal, and internal acoustic canal) is a canal in the petrous bone of the temporal bone of the skull that carries nerves from inside the cranium towards the middle and inner ear compartments namely cranial nerve VII and cranial nerve VIII.	
UBERON:0011858	acinus of exocrine gland	biolink:AnatomicalEntity	mondo			exocrine gland acinus	http://purl.obolibrary.org/obo/UBERON_0011858	An acinus that is part of a exocrine gland.	
UBERON:0011857	acinus of lacrimal gland	biolink:AnatomicalEntity	mondo			lacrimal gland acinus	http://purl.obolibrary.org/obo/UBERON_0011857	An acinus that is part of a lacrimal gland.	
HGNC:21406	RARS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21406		
UBERON:0011850	acinus of salivary gland	biolink:AnatomicalEntity	mondo			salivary gland acinus	http://purl.obolibrary.org/obo/UBERON_0011850	An acinus that is part of a salivary gland.	
GO:1903012	positive regulation of bone development	biolink:OntologyClass	mondo			up regulation of bone development|up-regulation of bone development|activation of bone development|upregulation of bone development	http://purl.obolibrary.org/obo/GO_1903012	Any process that activates or increases the frequency, rate or extent of bone development.	
UBERON:0011845	duct of sebaceous gland	biolink:AnatomicalEntity	mondo			sebaceous gland duct	http://purl.obolibrary.org/obo/UBERON_0011845	A duct that is part of a sebaceous gland.	
GO:1903011	negative regulation of bone development	biolink:OntologyClass	mondo			downregulation of bone development|down regulation of bone development|inhibition of bone development|down-regulation of bone development	http://purl.obolibrary.org/obo/GO_1903011	Any process that stops, prevents or reduces the frequency, rate or extent of bone development.	
GO:1903010	regulation of bone development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1903010	Any process that modulates the frequency, rate or extent of bone development.	
HGNC:6535	LDHA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6535		
UBERON:0011847	acinus of parotid gland	biolink:AnatomicalEntity	mondo			parotid gland acinus	http://purl.obolibrary.org/obo/UBERON_0011847	An acinus that is part of a parotid gland.	
UBERON:0011846	acinus of sebaceous gland	biolink:AnatomicalEntity	mondo			sebaceous gland acinus	http://purl.obolibrary.org/obo/UBERON_0011846	An acinus that is part of a sebaceous gland.	
GO:0051493	regulation of cytoskeleton organization	biolink:OntologyClass	mondo			regulation of cytoskeleton organization and biogenesis|regulation of cytoskeleton organisation	http://purl.obolibrary.org/obo/GO_0051493	Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures.	
GO:0051494	negative regulation of cytoskeleton organization	biolink:OntologyClass	mondo			down regulation of cytoskeleton organization|inhibition of cytoskeleton organization|downregulation of cytoskeleton organization|negative regulation of cytoskeleton organisation|negative regulation of cytoskeleton organization and biogenesis|down-regulation of cytoskeleton organization	http://purl.obolibrary.org/obo/GO_0051494	Any process that stops, prevents, or reduces the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures.	
HGNC:6530	LCT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6530		
UBERON:0008202	bone of hip region	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0008202		
GO:0051495	positive regulation of cytoskeleton organization	biolink:OntologyClass	mondo			positive regulation of cytoskeleton organisation|up-regulation of cytoskeleton organization|up regulation of cytoskeleton organization|activation of cytoskeleton organization|positive regulation of cytoskeleton organization and biogenesis|stimulation of cytoskeleton organization|upregulation of cytoskeleton organization	http://purl.obolibrary.org/obo/GO_0051495	Any process that activates or increases the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures.	
UBERON:0008203	pelvic cavity	biolink:AnatomicalEntity	mondo			cavitas pelvis|space of pelvic compartment	http://purl.obolibrary.org/obo/UBERON_0008203	The part of the ventral body cavity that is within the pelvis.	
GO:1903019	negative regulation of glycoprotein metabolic process	biolink:OntologyClass	mondo			downregulation of glycoprotein metabolic process|down-regulation of glycoprotein metabolism|negative regulation of glycoprotein metabolism|down regulation of glycoprotein metabolic process|down regulation of glycoprotein metabolism|inhibition of glycoprotein metabolic process|down-regulation of glycoprotein metabolic process|downregulation of glycoprotein metabolism|inhibition of glycoprotein metabolism	http://purl.obolibrary.org/obo/GO_1903019	Any process that stops, prevents or reduces the frequency, rate or extent of glycoprotein metabolic process.	
GO:1903018	regulation of glycoprotein metabolic process	biolink:OntologyClass	mondo			regulation of glycoprotein metabolism	http://purl.obolibrary.org/obo/GO_1903018	Any process that modulates the frequency, rate or extent of glycoprotein metabolic process.	
HGNC:6545	COG1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6545		
GO:1903020	positive regulation of glycoprotein metabolic process	biolink:OntologyClass	mondo			upregulation of glycoprotein metabolic process|up-regulation of glycoprotein metabolism|up regulation of glycoprotein metabolism|up regulation of glycoprotein metabolic process|positive regulation of glycoprotein metabolism|activation of glycoprotein metabolism|up-regulation of glycoprotein metabolic process|activation of glycoprotein metabolic process|upregulation of glycoprotein metabolism	http://purl.obolibrary.org/obo/GO_1903020	Any process that activates or increases the frequency, rate or extent of glycoprotein metabolic process.	
UBERON:0011831	duct of vestibular gland	biolink:AnatomicalEntity	mondo			vestibular gland duct	http://purl.obolibrary.org/obo/UBERON_0011831	A duct that is part of a vestibular gland.	
HGNC:6547	LDLR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6547		
HGNC:6541	LDHB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6541		
GO:1903028	positive regulation of opsonization	biolink:OntologyClass	mondo			up-regulation of opsonization|activation of opsonization|upregulation of opsonization|up regulation of opsonization	http://purl.obolibrary.org/obo/GO_1903028	Any process that activates or increases the frequency, rate or extent of opsonization.	
GO:1903027	regulation of opsonization	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1903027	Any process that modulates the frequency, rate or extent of opsonization.	
GO:1903026	negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding	biolink:OntologyClass	mondo			down-regulation of RNA polymerase II regulatory region sequence-specific DNA binding|down regulation of RNA polymerase II regulatory region sequence-specific DNA binding|inhibition of RNA polymerase II regulatory region sequence-specific DNA binding|downregulation of RNA polymerase II regulatory region sequence-specific DNA binding	http://purl.obolibrary.org/obo/GO_1903026	Any process that stops, prevents or reduces the frequency, rate or extent of RNA polymerase II regulatory region sequence-specific DNA binding.	
GO:1903025	regulation of RNA polymerase II regulatory region sequence-specific DNA binding	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1903025	Any process that modulates the frequency, rate or extent of RNA polymerase II regulatory region sequence-specific DNA binding.	
HP:0001804	Hypoplastic fingernail	biolink:PhenotypicFeature	mondo	UMLS:C1856786		Underdeveloped fingernail|Small fingernail	http://purl.obolibrary.org/obo/HP_0001804	Underdevelopment of a fingernail.	
GO:1903034	regulation of response to wounding	biolink:OntologyClass	mondo			regulation of physiological response to wounding	http://purl.obolibrary.org/obo/GO_1903034	Any process that modulates the frequency, rate or extent of response to wounding.	
HGNC:6554	LEPR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6554		
HGNC:6556	LETM1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6556		
UBERON:0008266	periodontal ligament	biolink:AnatomicalEntity	mondo			peridontium|peridontal fiber|alveolar periosteum|periodontal fiber|peridontal ligament fibre|peridontal ligament|periodontium|fibra periodontalis|desmodontium|alveolodental ligament|peridontal membrane|paradentium|peridontal fibre|alveolodental membrane|peridontal ligament fiber|odontoperiosteum|PDL|periodontal fibre|peridental membrane	http://purl.obolibrary.org/obo/UBERON_0008266	The fibrous connective tissue that surrounds the root of a tooth, separating it from and attaching it to the alveolar bone. It extends from the base of the gingival mucosa to the fundus of the bony socket, and its main function is to hold the tooth in its socket[BTO].	
HGNC:6553	LEP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6553		
MONDO:0000403	obsolete organ system cancer	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000403		
MONDO:0000402	small cell carcinoma	biolink:Disease	mondo	UMLS:C0334239|SCTID:11010461000119101|DOID:0050685|ICDO:8042/3|NCIT:C3915|ICDO:8041/3|EFO:0008524|MESH:D018288		intermediate cell small cell carcinoma|small cell carcinoma - intermediate cell|small cell carcinoma|small cell carcinoma, intermediate cell (morphologic abnormality)|small cell NEC|small cell neuroendocrine carcinoma|small cell carcinoma, intermediate cell|small cell cancer|small cell carcinoma (extrapulmonary)|oat cell cancer|small cell car. (extrapulmonary)|oat cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0000402	A neuroendocrine carcinoma composed of small malignant cells which are often said to resemble "oat cells" under the microscope. Small cell carcinoma most often affects the lungs. Clinically, this is often a rapidly growing cancer that spreads to distant sites early.	UMLS:C0334239|SNOMEDCT:11010461000119101|NCIT:C3915|DOID:0050685|MESH:D018288
MONDO:0000401	obsolete congenital bile acid synthesis defect	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000401		
MONDO:0000400	mixed cerebral palsy	biolink:Disease	mondo	UMLS:C0751024|SCTID:702318008|NCIT:C97177|DOID:0050673|ICD9:343.8			http://purl.obolibrary.org/obo/MONDO_0000400	A subtype of cerebral palsy characterized by both the tight muscle tone of spastic cerebral palsy and the writhing, involuntary muscle movements of athetoid cerebral palsy.	UMLS:C0751024|DOID:0050673|SNOMEDCT:702318008|NCIT:C97177
GO:1903039	positive regulation of leukocyte cell-cell adhesion	biolink:OntologyClass	mondo			positive regulation of leukocyte adhesion|up regulation of leukocyte adhesion|up-regulation of leukocyte cell-cell adhesion|activation of leukocyte cell-cell adhesion|up-regulation of leukocyte cell adhesion|up-regulation of leukocyte adhesion|activation of leukocyte adhesion|up regulation of leukocyte cell adhesion|activation of leukocyte cell adhesion|positive regulation of leukocyte cell adhesion|upregulation of leukocyte cell-cell adhesion|upregulation of leukocyte adhesion|upregulation of leukocyte cell adhesion|up regulation of leukocyte cell-cell adhesion	http://purl.obolibrary.org/obo/GO_1903039	Any process that activates or increases the frequency, rate or extent of leukocyte cell-cell adhesion.	
GO:1903038	negative regulation of leukocyte cell-cell adhesion	biolink:OntologyClass	mondo			inhibition of leukocyte cell adhesion|downregulation of leukocyte cell-cell adhesion|downregulation of leukocyte cell adhesion|downregulation of leukocyte adhesion|down regulation of leukocyte cell-cell adhesion|inhibition of leukocyte cell-cell adhesion|down regulation of leukocyte adhesion|down-regulation of leukocyte cell-cell adhesion|inhibition of leukocyte adhesion|down-regulation of leukocyte adhesion|negative regulation of leukocyte adhesion|down-regulation of leukocyte cell adhesion|negative regulation of leukocyte cell adhesion|down regulation of leukocyte cell adhesion	http://purl.obolibrary.org/obo/GO_1903038	Any process that stops, prevents or reduces the frequency, rate or extent of leukocyte cell-cell adhesion.	
GO:1903037	regulation of leukocyte cell-cell adhesion	biolink:OntologyClass	mondo			regulation of leukocyte cell adhesion|regulation of leukocyte adhesion	http://purl.obolibrary.org/obo/GO_1903037	Any process that modulates the frequency, rate or extent of leukocyte cell-cell adhesion.	
GO:1903036	positive regulation of response to wounding	biolink:OntologyClass	mondo			upregulation of response to wounding|upregulation of physiological response to wounding|positive regulation of physiological response to wounding|up regulation of response to wounding|up regulation of physiological response to wounding|up-regulation of response to wounding|activation of response to wounding|activation of physiological response to wounding|up-regulation of physiological response to wounding	http://purl.obolibrary.org/obo/GO_1903036	Any process that activates or increases the frequency, rate or extent of response to wounding.	
GO:1903035	negative regulation of response to wounding	biolink:OntologyClass	mondo			down regulation of response to wounding|down regulation of physiological response to wounding|inhibition of response to wounding|inhibition of physiological response to wounding|down-regulation of response to wounding|down-regulation of physiological response to wounding|negative regulation of physiological response to wounding|downregulation of response to wounding|downregulation of physiological response to wounding	http://purl.obolibrary.org/obo/GO_1903035	Any process that stops, prevents or reduces the frequency, rate or extent of response to wounding.	
UBERON:0011899	epimysium	biolink:AnatomicalEntity	mondo			fascia of muscle organ|epimysia	http://purl.obolibrary.org/obo/UBERON_0011899	Epimysium is a layer of connective tissue which ensheaths the entire muscle. It is composed of dense irregular connective tissue. It is continuous with fascia and other connective tissue wrappings of muscle including the endomysium, and perimysium. It is also continuous with tendons where it becomes thicker and collagenous.	
UBERON:0035805	muscle layer of sigmoid colon	biolink:AnatomicalEntity	mondo			sigmoideum muscularis|sigmoid colon muscularis propria|muscularis propria of sigmoid colon|tunica muscularis colon sigmoideum|muscularis externa of sigmoid colon	http://purl.obolibrary.org/obo/UBERON_0035805	A muscle layer that is part of the sigmoid colon	
UBERON:0035804	future mouth	biolink:AnatomicalEntity	mondo			primordial mouth|primitive mouth	http://purl.obolibrary.org/obo/UBERON_0035804	The primordial mouth region of the developing head.	
UBERON:0035809	serous cavity	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0035809		
HGNC:6560	LFNG	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6560		
HGNC:6562	LGALS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6562		
UBERON:0011892	anterior uvea	biolink:AnatomicalEntity	mondo			ciliary body and iris|tunica vasculosa bulbosa|anterior vascular tunic of the eye|vasculosa oculi|Haller tunica vascula|anterior part of uveal tract|anterior vascular layer of the eyeball|ventral uveal tract|anterior uveal tract	http://purl.obolibrary.org/obo/UBERON_0011892	Front (ventral) portion of the vascular, pigmentary, or middle coat of the eye, including the ciliary body and the iris.	
GO:1903049	negative regulation of acetylcholine-gated cation channel activity	biolink:OntologyClass	mondo			down-regulation of acetylcholine-gated cation channel activity|down regulation of acetylcholine-gated cation channel activity|inhibition of acetylcholine-gated cation channel activity|downregulation of acetylcholine-gated cation channel activity	http://purl.obolibrary.org/obo/GO_1903049	Any process that stops, prevents or reduces the frequency, rate or extent of acetylcholine-gated cation channel activity.	
GO:1903048	regulation of acetylcholine-gated cation channel activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1903048	Any process that modulates the frequency, rate or extent of acetylcholine-gated cation channel activity.	
UBERON:0011894	lumen of vagina	biolink:AnatomicalEntity	mondo			vaginal lumen	http://purl.obolibrary.org/obo/UBERON_0011894	A organ cavity that is part of a vagina.	
GO:1903047	mitotic cell cycle process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1903047	A process that is part of the mitotic cell cycle.	
GO:1903046	meiotic cell cycle process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1903046	A process that is part of the meiotic cell cycle.	
UBERON:0035820	peritoneal sac	biolink:AnatomicalEntity	mondo			peritoneal component	http://purl.obolibrary.org/obo/UBERON_0035820	A serous sac that is the aggregate of the peritoneum and the peritoneal cavity, located in the abdominal cavity.	
GO:1903055	positive regulation of extracellular matrix organization	biolink:OntologyClass	mondo			positive regulation of extracellular matrix organization and biogenesis|activation of extracellular matrix organization|up regulation of extracellular matrix organization and biogenesis|up-regulation of extracellular matrix organisation|upregulation of extracellular matrix organization|up-regulation of extracellular matrix organization and biogenesis|up regulation of extracellular matrix organisation|positive regulation of extracellular matrix organisation|activation of extracellular matrix organisation|up-regulation of extracellular matrix organization|activation of extracellular matrix organization and biogenesis|upregulation of extracellular matrix organization and biogenesis|upregulation of extracellular matrix organisation|up regulation of extracellular matrix organization	http://purl.obolibrary.org/obo/GO_1903055	Any process that activates or increases the frequency, rate or extent of extracellular matrix organization.	
GO:1903054	negative regulation of extracellular matrix organization	biolink:OntologyClass	mondo			down regulation of extracellular matrix organisation|inhibition of extracellular matrix organization and biogenesis|down-regulation of extracellular matrix organization|downregulation of extracellular matrix organisation|inhibition of extracellular matrix organisation|downregulation of extracellular matrix organization and biogenesis|down regulation of extracellular matrix organization|down regulation of extracellular matrix organization and biogenesis|downregulation of extracellular matrix organization|inhibition of extracellular matrix organization|down-regulation of extracellular matrix organization and biogenesis|negative regulation of extracellular matrix organization and biogenesis|negative regulation of extracellular matrix organisation|down-regulation of extracellular matrix organisation	http://purl.obolibrary.org/obo/GO_1903054	Any process that stops, prevents or reduces the frequency, rate or extent of extracellular matrix organization.	
UBERON:0035814	pericardial fat	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0035814	The sum of epicardial and paracardial fat deposits.	
GO:1903053	regulation of extracellular matrix organization	biolink:OntologyClass	mondo			regulation of extracellular matrix organisation|regulation of extracellular matrix organization and biogenesis	http://purl.obolibrary.org/obo/GO_1903053	Any process that modulates the frequency, rate or extent of extracellular matrix organization.	
UBERON:0035815	paracardial fat	biolink:AnatomicalEntity	mondo			intrathoracic fat	http://purl.obolibrary.org/obo/UBERON_0035815	Fat deposits in the mediastinum outside the parietal pericardium .	
UBERON:0035818	visceral fat	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0035818	Any fat deposit surrounding a visceral organ.	
UBERON:0035819	abdominopelvic cavity	biolink:AnatomicalEntity	mondo			cavitas abdominis et pelvis	http://purl.obolibrary.org/obo/UBERON_0035819	The part of the ventral body cavity that is within the abdominal segment of the trunk, which encompasses the abdomen proper plus pelvic cavity.	
UBERON:0008242	lower back muscle	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0008242	A muscle of back that is part of a lower back.	
UBERON:0008243	upper back muscle	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0008243	A muscle of back that is part of a dorsal thoracic segment of trunk.	
HGNC:6572	LGI1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6572		
OBO:cl#has_low_plasma_membrane_amount	has_low_plasma_membrane_amount	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/cl#has_low_plasma_membrane_amount	A relation between a cell and molecule or complex such that every instance of the cell has a low number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617).	
NCBITaxon:4564	Triticum	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_4564		
GO:1903059	regulation of protein lipidation	biolink:OntologyClass	mondo			regulation of protein amino acid lipidation|regulation of lipid:protein modification	http://purl.obolibrary.org/obo/GO_1903059	Any process that modulates the frequency, rate or extent of protein lipidation.	
UBERON:0035831	costal diaphragm	biolink:AnatomicalEntity	mondo			pars costalis diaphragmatis|costal part of diaphragm	http://purl.obolibrary.org/obo/UBERON_0035831	The domain of the diaphragm that is a thin domed sheet of muscle composed of a radial array of myofibers extending laterally from the ribs and medially to a central tendon.	
UBERON:0011878	muscle layer of esophagus	biolink:AnatomicalEntity	mondo			tela muscularis (oesophagus)|tunica muscularis esophagi|tunica muscularis oesophageae|muscular layer of oesophagus|muscular coat of oesophagus|muscle coat of esophagus	http://purl.obolibrary.org/obo/UBERON_0011878	A muscle layer that is part of a wall of esophagus.	
UBERON:0011877	margin of tongue	biolink:AnatomicalEntity	mondo			tongue margin|margo linguae	http://purl.obolibrary.org/obo/UBERON_0011877	The lateral border that separates the dorsum from the inferior surface of the tongue on each side, the two borders meeting anteriorly at the apex..	
UBERON:0035825	left adrenal gland cortex	biolink:AnatomicalEntity	mondo			cortex of left suprarenal gland|left adrenal cortex|cortex of left adrenal gland	http://purl.obolibrary.org/obo/UBERON_0035825	the thick outer layer of the adrenal gland that is in the left side of the abdomen	
UBERON:0035827	right adrenal gland cortex	biolink:AnatomicalEntity	mondo			right adrenal cortex|cortex of right suprarenal gland|cortex of right adrenal gland	http://purl.obolibrary.org/obo/UBERON_0035827	the thick outer layer of the adrenal gland that is in the right side of the abdomen	
UBERON:0035826	left adrenal gland medulla	biolink:AnatomicalEntity	mondo			medulla of left suprarenal gland|left adrenal medulla|medulla of left adrenal gland	http://purl.obolibrary.org/obo/UBERON_0035826	the adrenal gland medulla that is in the left side of the abdomen	
GO:1903061	positive regulation of protein lipidation	biolink:OntologyClass	mondo			positive regulation of lipid:protein modification|upregulation of protein amino acid lipidation|up regulation of lipid:protein modification|up regulation of protein lipidation|up-regulation of lipid:protein modification|activation of lipid:protein modification|activation of protein lipidation|up-regulation of protein lipidation|up-regulation of protein amino acid lipidation|upregulation of lipid:protein modification|up regulation of protein amino acid lipidation|activation of protein amino acid lipidation|upregulation of protein lipidation|positive regulation of protein amino acid lipidation	http://purl.obolibrary.org/obo/GO_1903061	Any process that activates or increases the frequency, rate or extent of protein lipidation.	
GO:1903060	negative regulation of protein lipidation	biolink:OntologyClass	mondo			negative regulation of protein amino acid lipidation|down-regulation of protein amino acid lipidation|down regulation of protein amino acid lipidation|downregulation of lipid:protein modification|downregulation of protein lipidation|inhibition of protein amino acid lipidation|downregulation of protein amino acid lipidation|down regulation of lipid:protein modification|down regulation of protein lipidation|inhibition of lipid:protein modification|inhibition of protein lipidation|negative regulation of lipid:protein modification|down-regulation of lipid:protein modification|down-regulation of protein lipidation	http://purl.obolibrary.org/obo/GO_1903060	Any process that stops, prevents or reduces the frequency, rate or extent of protein lipidation.	
UBERON:0035828	right adrenal gland medulla	biolink:AnatomicalEntity	mondo			medulla of right suprarenal gland|medulla of right adrenal gland|right adrenal medulla	http://purl.obolibrary.org/obo/UBERON_0035828	the adrenal gland medulla that is in the right side of the abdomen	
IAO:0000226	placeholder removed	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/IAO_0000226		
UBERON:0008230	tibialis	biolink:AnatomicalEntity	mondo			tibialis muscle	http://purl.obolibrary.org/obo/UBERON_0008230	Either of two muscles of the calf of the leg.	
IAO:0000227	terms merged	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/IAO_0000227		
IAO:0000224	obsolete_core	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/IAO_0000224	Core is an instance of a grouping of terms from an ontology or ontologies. It is used by the ontology to identify main classes.	
UBERON:0008231	dorsal thoracic segment of trunk	biolink:AnatomicalEntity	mondo			thoracic part of back|posterior part of thorax|dorsum of thorax|back of thorax|upper back|thoracic back	http://purl.obolibrary.org/obo/UBERON_0008231	Subdivision of thorax, which in humans is the posterior part of the thorax and is demarcated from the chest by the external surface of the posterolateral part of the rib cage and the anterior surface of the thoracic vertebral column; together with the chest, it constitutes the thorax.	
IAO:0000225	obsolescence reason specification	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/IAO_0000225	The reason for which a term has been deprecated. The allowed values come from an enumerated list of predefined terms. See the specification of these instances for more detailed definitions of each enumerated value.	
HGNC:6584	LHB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6584		
HGNC:6585	LHCGR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6585		
GO:0002465	peripheral tolerance induction	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002465	Tolerance induction in the peripheral lymphoid tissues: blood, lymph nodes, spleen, and mucosal-associated lymphoid tissues.	
GO:0002460	adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002460	An immune response mediated by lymphocytes expressing specific receptors for antigen produced through a somatic diversification process that includes somatic recombination of germline gene segments encoding immunoglobulin superfamily domains. Recombined receptors for antigen encoded by immunoglobulin superfamily domains include T cell receptors and immunoglobulins (antibodies) produced by B cells. The first encounter with antigen elicits a primary immune response that is slow and not of great magnitude. T and B cells selected by antigen become activated and undergo clonal expansion. A fraction of antigen-reactive T and B cells become memory cells, whereas others differentiate into effector cells. The memory cells generated during the primary response enable a much faster and stronger secondary immune response upon subsequent exposures to the same antigen (immunological memory). An example of this is the adaptive immune response found in Mus musculus.	
GO:0002461	tolerance induction dependent upon immune response	biolink:OntologyClass	mondo			immune response-dependent tolerance induction	http://purl.obolibrary.org/obo/GO_0002461	Tolerance induction dependent upon an immune response, typically a response by a mature T or B cell in the periphery resulting tolerance towards an antigen via induction of anergy, cellular deletion, or regulatory T cell activation.	
GO:0002445	type II hypersensitivity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002445	An inflammatory response resulting in cell death or dysfunction mediated by activation of the classical complement pathway or induction of effector cell phagocytosis, cytolysis mechanisms via complement or Fc receptors following the binding of antibodies to cell surface antigens on a target cell, or mediated by the direct binding of antibody to cellular receptors.	
GO:0002441	histamine secretion involved in inflammatory response	biolink:OntologyClass	mondo			histamine secretion involved in acute inflammatory response	http://purl.obolibrary.org/obo/GO_0002441	The regulated release of histamine by a cell as part of an inflammatory response.	
GO:0002442	serotonin secretion involved in inflammatory response	biolink:OntologyClass	mondo			serotonin release involved in inflammatory response|serotonin secretion involved in acute inflammatory response	http://purl.obolibrary.org/obo/GO_0002442	The regulated release of serotonin by a cell as part of an inflammatory response.	
GO:0002443	leukocyte mediated immunity	biolink:OntologyClass	mondo			leucocyte immune effector process|leucocyte mediated immunity|immune cell mediated immunity|leukocyte immune effector process|immune cell effector process|cellular immune response|cell-mediated immune response	http://purl.obolibrary.org/obo/GO_0002443	Any process involved in the carrying out of an immune response by a leukocyte.	
GO:0002444	myeloid leukocyte mediated immunity	biolink:OntologyClass	mondo			myeloid leukocyte immune effector process|myeloid leucocyte immune effector process|myeloid leucocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002444	Any process involved in the carrying out of an immune response by a myeloid leukocyte.	
GO:0002440	production of molecular mediator of immune response	biolink:OntologyClass	mondo			production of cellular mediator of immune response	http://purl.obolibrary.org/obo/GO_0002440	The synthesis or release of any molecular mediator of the immune response, resulting in an increase in its intracellular or extracellular levels.	
GO:0002449	lymphocyte mediated immunity	biolink:OntologyClass	mondo			cellular immune response|cell-mediated immunity	http://purl.obolibrary.org/obo/GO_0002449	Any process involved in the carrying out of an immune response by a lymphocyte.	
GO:0002456	T cell mediated immunity	biolink:OntologyClass	mondo			cellular immune response|T-cell mediated immunity|cell-mediated immunity|T lymphocyte mediated immunity|T-lymphocyte mediated immunity	http://purl.obolibrary.org/obo/GO_0002456	Any process involved in the carrying out of an immune response by a T cell.	
UBERON:0008307	heart endothelium	biolink:AnatomicalEntity	mondo			cardiac endothelium	http://purl.obolibrary.org/obo/UBERON_0008307	An endothelium that is part of a heart [Automatically generated definition].	
GO:0002429	immune response-activating cell surface receptor signaling pathway	biolink:OntologyClass	mondo			immune response-activating cell surface receptor signalling pathway|activation of immune response by cell surface receptor signaling pathway	http://purl.obolibrary.org/obo/GO_0002429	A series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of a cell capable of activating or perpetuating an immune response.	
GO:0051445	regulation of meiotic cell cycle	biolink:OntologyClass	mondo			regulation of progression through meiotic cell cycle|modulation of meiotic cell cycle progression|regulation of meiotic cell cycle progression|meiotic cell cycle regulator|meiotic cell cycle modulation|meiotic cell cycle regulation	http://purl.obolibrary.org/obo/GO_0051445	Any process that modulates the rate or extent of progression through the meiotic cell cycle.	
GO:0051446	positive regulation of meiotic cell cycle	biolink:OntologyClass	mondo			up regulation of progression through meiotic cell cycle|stimulation of progression through meiotic cell cycle|positive regulation of meiotic cell cycle progression|up-regulation of progression through meiotic cell cycle|activation of progression through meiotic cell cycle|upregulation of progression through meiotic cell cycle|positive regulation of progression through meiotic cell cycle	http://purl.obolibrary.org/obo/GO_0051446	Any process that activates or increases the frequency, rate or extent of progression through the meiotic cell cycle.	
GO:0002437	inflammatory response to antigenic stimulus	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002437	An inflammatory response to an antigenic stimulus, which can be include any number of T cell or B cell epitopes.	
GO:0002430	complement receptor mediated signaling pathway	biolink:OntologyClass	mondo			complement receptor mediated signalling pathway|immune response-regulating cell surface receptor signalling pathway	http://purl.obolibrary.org/obo/GO_0002430	A series of molecular signals generated as a consequence of a component of the complement pathway binding to a complement receptor. Such components include both whole complement proteins and fragments of complement proteins generated through the activity of the complement pathway.	
GO:0051447	negative regulation of meiotic cell cycle	biolink:OntologyClass	mondo			negative regulation of meiotic cell cycle progression|downregulation of progression through meiotic cell cycle|down regulation of progression through meiotic cell cycle|inhibition of progression through meiotic cell cycle|negative regulation of progression through meiotic cell cycle|down-regulation of progression through meiotic cell cycle	http://purl.obolibrary.org/obo/GO_0051447	Any process that stops, prevents or reduces the rate or extent of progression through the meiotic cell cycle.	
GO:0002433	immune response-regulating cell surface receptor signaling pathway involved in phagocytosis	biolink:OntologyClass	mondo			phagocytosis triggered by activation of immune response cell surface activating receptor|immune response-regulating cell surface receptor signalling pathway involved in phagocytosis	http://purl.obolibrary.org/obo/GO_0002433	An immune response-regulating cell surface receptor signaling pathway that contributes to the endocytic engulfment of external particulate material by phagocytes.	
GO:2000677	regulation of transcription regulatory region DNA binding	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000677	Any process that modulates the frequency, rate or extent of transcription regulatory region DNA binding.	
GO:2000678	negative regulation of transcription regulatory region DNA binding	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000678	Any process that stops, prevents or reduces the frequency, rate or extent of transcription regulatory region DNA binding.	
GO:2000679	positive regulation of transcription regulatory region DNA binding	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2000679	Any process that activates or increases the frequency, rate or extent of transcription regulatory region DNA binding.	
UBERON:0011932	pilosebaceous unit	biolink:AnatomicalEntity	mondo			pilo-sebaceous unit|pilosebaceous apparatus|fabrica pilosebacea|pilosebaceous gland|pilo-sebaceous apparatus	http://purl.obolibrary.org/obo/UBERON_0011932	An epidermal invagination that has as parts a hair follicle, a sebaceous gland, and arrector pili muscle	
UBERON:0011931	nasal hair	biolink:AnatomicalEntity	mondo			hair of vestibular part of nose|nose hair|hair of nose	http://purl.obolibrary.org/obo/UBERON_0011931	Hair in the nose	
UBERON:0011930	preganglionic parasympathetic fiber	biolink:AnatomicalEntity	mondo			parasympathetic preganglionic fiber	http://purl.obolibrary.org/obo/UBERON_0011930	A cholinergic axonal fibers projecting from the CNS to a parasympathetic ganglion	
GO:0002438	acute inflammatory response to antigenic stimulus	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0002438	An acute inflammatory response to an antigenic stimulus. An acute inflammatory response occurs within a matter of minutes or hours, and either resolves within a few days or becomes a chronic inflammatory response.	
GO:0051458	corticotropin secretion	biolink:OntologyClass	mondo			ACTH secretion|corticotropic hormone secretion|adrenotropic hormone secretion|adrenocorticotropin secretion|adrenocorticotropic hormone secretion|adrenotropin secretion	http://purl.obolibrary.org/obo/GO_0051458	The regulated release of corticotropin by a cell. Corticotropin hormone is a polypeptide hormone synthesized and secreted from corticotropes in the anterior lobe of the pituitary gland in response to corticotropin-releasing hormone (CRH) released by the hypothalamus.	
GO:0051459	regulation of corticotropin secretion	biolink:OntologyClass	mondo			regulation of adrenotropin hormone secretion|regulation of corticotropic hormone secretion|regulation of adrenocorticotropin secretion|regulation of adrenotropin secretion|regulation of adrenocorticotropic hormone secretion|regulation of ACTH secretion	http://purl.obolibrary.org/obo/GO_0051459	Any process that modulates the frequency, rate or extent of the regulated release of corticotropic hormone from a cell.	
UBERON:0011921	connecting stalk blood islands	biolink:AnatomicalEntity	mondo			blood island of umbilical vesicle|insula sanguinea vesiculae umbilicalis	http://purl.obolibrary.org/obo/UBERON_0011921		
UBERON:0011925	preganglionic autonomic fiber	biolink:AnatomicalEntity	mondo			preganglionic nerve fiber|preganglionic autonomic fibre	http://purl.obolibrary.org/obo/UBERON_0011925	Nerve fibers which project from the central nervous system to autonomic ganglia. In the sympathetic division most preganglionic fibers originate with neurons in the intermediolateral column of the spinal cord, exit via ventral roots from upper thoracic through lower lumbar segments, and project to the paravertebral ganglia; there they either terminate in synapses or continue through the splanchnic nerves to the prevertebral ganglia. In the parasympathetic division the fibers originate in neurons of the brain stem and sacral spinal cord. In both divisions the principal transmitter is acetylcholine but peptide cotransmitters may also be released.	
UBERON:0011927	preganglionic sympathetic fiber	biolink:AnatomicalEntity	mondo			sympathetic preganglionic fiber	http://purl.obolibrary.org/obo/UBERON_0011927	A cholinergic axonal fiber projecting from the CNS to a sympathetic ganglion	
CHEBI:16393	sphingosine	biolink:ChemicalSubstance	mondo			trans-4-sphingenine|(2S,3R,E)-2-aminooctadec-4-ene-1,3-diol|Sphingenine|sphingosin|C18 sphingosine|(2S,3R,4E)-2-amino-3-hydroxyoctadec-4-ene-1-ol|D-erythro-sphingosine|Sph|(2S,3R)-(E)-2-amino-1,3-dihydroxy-4-octadecene|(E)-2-amino-4-octadecan-1,3-diol|D-(+)-erythro-1,3-dihydroxy-2-amino-4-trans-octadecene|Sphingosine|Sphing-4-enine|trans-D-erythro-2-amino-4-octadecene-1,3-diol|Sphingosine d18:1|(2S,3R,4E)-2-amino-4-octadecene-1,3-diol|2-amino-4-octadecene-1,3-diol|(E)-D-erythro-4-octadecene-1,3-diol|(2S,3R,4E)-2-aminooctadec-4-ene-1,3-diol|(4E)-sphing-4-enine|Sphingoid|(4E)-sphingenine	http://purl.obolibrary.org/obo/CHEBI_16393	A sphing-4-enine in which the double bond is trans.	
HGNC:6501	LAMP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6501		
HGNC:6502	RPSA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/6502		
GO:1905636	positive regulation of RNA polymerase II regulatory region sequence-specific DNA binding	biolink:OntologyClass	mondo			up regulation of RNA polymerase II regulatory region sequence-specific DNA binding|activation of RNA polymerase II regulatory region sequence-specific DNA binding|upregulation of RNA polymerase II regulatory region sequence-specific DNA binding|up-regulation of RNA polymerase II regulatory region sequence-specific DNA binding	http://purl.obolibrary.org/obo/GO_1905636	Any process that activates or increases the frequency, rate or extent of RNA polymerase II regulatory region sequence-specific DNA binding.	
UBERON:0011919	yolk sac blood island	biolink:AnatomicalEntity	mondo			yolk sac blood islands|visceral yolk sac blood island	http://purl.obolibrary.org/obo/UBERON_0011919	masses of developing blood cells attached to endothelium in the yolk sac	
GO:0051460	negative regulation of corticotropin secretion	biolink:OntologyClass	mondo			negative regulation of adrenotropic hormone secretion|inhibition of adrenocorticotropin secretion|downregulation of adrenocorticotropin secretion|negative regulation of adrenocorticotropic hormone secretion|negative regulation of adrenotropin secretion|negative regulation of corticotropic hormone secretion|negative regulation of adrenocorticotropin secretion|down-regulation of adrenocorticotropin secretion|negative regulation of ACTH secretion|down regulation of adrenocorticotropin secretion	http://purl.obolibrary.org/obo/GO_0051460	Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of corticotropic hormone from a cell.	
GO:0051463	negative regulation of cortisol secretion	biolink:OntologyClass	mondo			down-regulation of cortisol secretion|downregulation of cortisol secretion|down regulation of cortisol secretion|inhibition of cortisol secretion	http://purl.obolibrary.org/obo/GO_0051463	Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of cortisol from a cell.	
GO:0051464	positive regulation of cortisol secretion	biolink:OntologyClass	mondo			upregulation of cortisol secretion|stimulation of cortisol secretion|up regulation of cortisol secretion|activation of cortisol secretion|up-regulation of cortisol secretion	http://purl.obolibrary.org/obo/GO_0051464	Any process that activates or increases the frequency, rate or extent of the regulated release of cortisol from a cell.	
GO:0051461	positive regulation of corticotropin secretion	biolink:OntologyClass	mondo			positive regulation of ACTH secretion|up-regulation of adrenocorticotropin secretion|positive regulation of adrenotropic hormone secretion|up regulation of adrenocorticotropin secretion|activation of adrenocorticotropin secretion|positive regulation of corticotropic hormone secretion|positive regulation of adrenocorticotropin secretion|stimulation of adrenocorticotropin secretion|upregulation of adrenocorticotropin secretion|positive regulation of adrenotropin secretion|positive regulation of adrenocorticotropic hormone secretion	http://purl.obolibrary.org/obo/GO_0051461	Any process that activates or increases the frequency, rate or extent of the regulated release of corticotropin hormone from a cell.	
GO:0051462	regulation of cortisol secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0051462	Any process that modulates the frequency, rate or extent of the regulated release of cortisol from a cell.	
MONDO:0024487	nail infection	biolink:Disease	mondo	UMLS:C0343026|NCIT:C78493		nail infection	http://purl.obolibrary.org/obo/MONDO_0024487	An infectious process affecting the nail.	NCIT:C78493|UMLS:C0343026
MONDO:0024486	obsolete familial chronic mucocutaneous candidiasis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0024486		
MONDO:0024489	general tumor grading characteristic	biolink:Disease	mondo	NCIT:C28076		disease grade qualifier	http://purl.obolibrary.org/obo/MONDO_0024489	A term that refers to the cellular differentiation of a malignant cellular infiltrate. A cancer is defined through grades I-IV (or 1-4), or as well, moderately, poorly differentiated or undifferentiated.	NCIT:C28076
MONDO:0024488	tumor grading characteristic	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0024488	A modifier that can be applied to a tumor class describing abnormal tumor histology or morphology. It is an indicator of how quickly a tumor is likely to grow and spread	
ENVO:01001125	ice	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001125	An ice is an environmental material which is either frozen or which is maintained in a solid state by gravitational forces or pressure.	
HP:0011138	Abnormality of skin adnexa morphology	biolink:PhenotypicFeature	mondo	UMLS:C4023518		Abnormal skin appendage	http://purl.obolibrary.org/obo/HP_0011138	An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.	
MONDO:0024481	skin appendage disease	biolink:Disease	mondo	SCTID:238714008|UMLS:C0037272		disease of cutaneous appendage|disorder of cutaneous appendage|disease of epidermal appendage|disorder of cutaneous appendage|disorder of skin appendage|cutaneous appendage disease|disease or disorder of cutaneous appendage|disease of epidermal appendages|cutaneous appendage disease or disorder	http://purl.obolibrary.org/obo/MONDO_0024481	A disease that involves the cutaneous appendage.	SNOMEDCT:238714008|UMLS:C0037272
MONDO:0024480	dermatosis of eyelid	biolink:Disease	mondo	UMLS:C1274150|SCTID:402700001		dermatosis of eyelid	http://purl.obolibrary.org/obo/MONDO_0024480		SNOMEDCT:402700001|UMLS:C1274150
MONDO:0024483	urothelial hyperplasia	biolink:Disease	mondo	NCIT:C27877		urothelial hyperplasia|urothelium hyperplasia	http://purl.obolibrary.org/obo/MONDO_0024483	Hyperplasia of the transitional epithelium of the urinary tract. Morphologically it is subdivided into flat and papillary hyperplasia. -- 2003	NCIT:C27877
MONDO:0024482	eccrine sweat gland hamartoma	biolink:Disease	mondo	NCIT:C5564|UMLS:C1333372		eccrine sweat gland hamartoma (disease)|eccrine sweat gland hamartoma|hamartoma of the eccrine sweat gland|hamartoma of eccrine sweat gland	http://purl.obolibrary.org/obo/MONDO_0024482	A hamartoma characterized by localized eccrine sweat gland malformation.	UMLS:C1333372|NCIT:C5564
MONDO:0024485	papillary urothelial hyperplasia	biolink:Disease	mondo	NCIT:C27879		papillary urothelial hyperplasia	http://purl.obolibrary.org/obo/MONDO_0024485	A type of hyperplasia that is characterized by variable thickening of the urinary tract epithelium and a slight papillary growth. The latter is not associated with the presence of fibrovascular cores. There is no evidence of atypia. The relationship between this lesion and papillary urothelial neoplasia is not clear. -- 2003	NCIT:C27879
ENVO:01001122	gas planet	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001122	A planet which is primarily composed of hydrogen and helium.	
MONDO:0024476	epithelial neoplasm of rectum	biolink:Disease	mondo			rectum epithelial neoplasm|rectal epithelial tumor|rectal epithelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0024476	A epithelial neoplasm that involves the rectum.	
HP:0011121	Abnormality of skin morphology	biolink:PhenotypicFeature	mondo	Fyler:4133|UMLS:C4023528		Abnormal skin structure|Abnormal skin morphology	http://purl.obolibrary.org/obo/HP_0011121	Any morphological abnormality of the skin.	
MONDO:0024475	squamous cell intraepithelial neoplasia	biolink:Disease	mondo	NCIT:C8334		squamous intraepithelial lesion|sil|squamous cell intraepithelial neoplasia|SIN	http://purl.obolibrary.org/obo/MONDO_0024475		NCIT:C8334
MONDO:0024478	mesenchymal hamartoma	biolink:Disease	mondo	UMLS:C0334090|NCIT:C40427		mesenchymal hamartoma	http://purl.obolibrary.org/obo/MONDO_0024478		UMLS:C0334090|NCIT:C40427
HP:0011122	Abnormality of skin physiology	biolink:PhenotypicFeature	mondo	UMLS:C4023527		Abnormality of skin physiology	http://purl.obolibrary.org/obo/HP_0011122	Any abnormality of the physiological function of the skin.	
MONDO:0024477	liver and intrahepatic bile duct neoplasm	biolink:Disease	mondo	UMLS:C1333976|NCIT:C7103		hepatic and intrahepatic bile duct neoplasm|liver and intrahepatic bile duct neoplasm	http://purl.obolibrary.org/obo/MONDO_0024477	A benign or malignant neoplasm that affects the liver parenchyma or intrahepatic bile ducts. Representative examples of benign neoplasms include hepatocellular adenoma, and bile duct adenoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, and lymphoma.	UMLS:C1333976|NCIT:C7103
HP:0011123	Inflammatory abnormality of the skin	biolink:PhenotypicFeature	mondo	MP:0004947|UMLS:C0011603|SNOMEDCT_US:703938007|MSH:D003872|UMLS:C3875321		Dermatitis|Inflammatory abnormality of the skin|Skin inflammation|Abnormal tendency to infections of the skin|Inflammatory skin disease	http://purl.obolibrary.org/obo/HP_0011123	The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes.	
MONDO:0024479	epithelial tumor of colon	biolink:Disease	mondo			colon epithelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0024479	A epithelial neoplasm that involves the colon.	
MONDO:0024470	benign chondrogenic neoplasm	biolink:Disease	mondo	UMLS:C0852519|SCTID:722690001|NCIT:C8592		chondrogenic neoplasm, benign|benign cartilaginous neoplasm|benign cartilaginous tumor|benign neoplasm of the cartilage|benign neoplasm of cartilage|benign tumor of the cartilage|benign chondrogenic neoplasm|benign tumor of cartilage|benign chondrogenic tumor	http://purl.obolibrary.org/obo/MONDO_0024470	A non-metastasizing cartilaginous matrix-producing neoplasm characterized by the presence of neoplastic chondrocytes. Representative examples include osteochondroma and chondroma.	NCIT:C8592|UMLS:C0852519|SNOMEDCT:722690001
MONDO:0024472	boutonneuse fever	biolink:Disease	mondo	ICD10:A77.1|SCTID:186774005|Orphanet:83313|MESH:D001907|Orphanet:101334|DOID:14095|ICD9:082.1|MedDRA:10006045|UMLS:C0006060|EFO:0007179	ordo_disease|ordo_etiological_subtype	boutonneuse disease|Kenya fever|Kenyan tick typhus|fievre boutonneuse|Conor and Bruch's disease|marseilles fever|boutonneuse fever|Kenya tick typhus|Mediterranean tick fever|Mediterranean spotted fever|Rickettsia conorii spotted fever|South African tick-bite fever|tick typhus due to rickettsia conorii|African tick typhus	http://purl.obolibrary.org/obo/MONDO_0024472	An infectious disease of the Mediterranean area, the Crimea, Africa, and India, caused by infection with rickettsia conorii subsp. coronorii.	MEDDRA:10006045|DOID:14095|MESH:D001907|SNOMEDCT:186774005|UMLS:C0006060|ORPHA:83313|ORPHA:101334
MONDO:0024471	non-inflammatory vasculopathy	biolink:Disease	mondo	Orphanet:496924	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0024471		ORPHA:496924
MONDO:0024474	intraepithelial neoplasia	biolink:Disease	mondo	NCIT:C8366		intraepithelial neoplasia|epithelial dysplasia|intraepithelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0024474	A precancerous neoplastic process that affects the squamous, glandular, or transitional cell epithelium without evidence of invasion. According to the degree of nuclear atypia, number of mitotic figures, and presence of architectural distortion, it is classified as low grade (mild dysplasia) or high grade (moderate or severe dysplasia).	NCIT:C8366
MONDO:0024473	Astrakhan spotted fever	biolink:Disease	mondo	DOID:0050041			http://purl.obolibrary.org/obo/MONDO_0024473	An infectious disease of the Astrakhan region, Chad, Kosovo, caused by infection with rickettsia conorii subsp. caspia.	DOID:0050041
MONDO:0012498	congenital stationary night blindness autosomal dominant 1	biolink:Disease	mondo	OMIM:610445|MESH:C566474|UMLS:C1864869|DOID:0110862		night blindness, congenital stationary, autosomal dominant type 1|RHO congenital stationary night blindness|congenital stationary night blindness caused by mutation in RHO|night blindness, congenital stationary, rhodopsin-related|rhodopsin-related congenital stationary night blindness|night blindness, congenital stationary, autosomal dominant 1|CSNBAD1|congenital stationary night blindness autosomal dominant type 1|night blindness, congenital stationary, autosomal dominant 1; CSNBAD1	http://purl.obolibrary.org/obo/MONDO_0012498	Any congenital stationary night blindness in which the cause of the disease is a mutation in the RHO gene.	UMLS:C1864869|MESH:C566474|http://identifiers.org/omim/610445|DOID:0110862
MONDO:0012499	Buruli ulcer, susceptibility to	biolink:Disease	mondo	GARD:0009520|OMIM:610446	predisposition	Buruli ulcer, susceptibility to|BUD|Mycobacterium ulcerans, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0012499		http://identifiers.org/omim/610446
MONDO:0012496	Koolen de Vries syndrome	biolink:Disease	mondo	OMIM:610443|ICD10:Q93.5|GARD:0010727|UMLS:C1864871|UMLS:CN776874|Orphanet:96169|DOID:0070076|DOID:0050880|SCTID:717338006	ordo_malformation_syndrome	KANSL1-related intellectual disability syndrome|microdeletion 17Q21.31 syndrome|chromosome 17Q21.31 deletion syndrome|Koolen-DE Vries syndrome; KDVS|Koolen-De Vries syndrome|17q21.31 deletion syndrome|chromosome 17q21.31 microdeletion syndrome|Koolen-DE Vries syndrome|microdeletion 17q21.31 syndrome|KdVS|17q21.31 microdeletion syndrome|KDVS|chromosome 17q21.31 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0012496	Monosomy 17q21.31 (17q21.31 microdeletion syndrome) is a chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior.	DOID:0070076|SNOMEDCT:717338006|UMLS:C1864871|DOID:0050880|ORPHA:96169|http://identifiers.org/omim/610443|UMLS:CN776874
MONDO:0012497	congenital stationary night blindness autosomal dominant 3	biolink:Disease	mondo	OMIM:610444|UMLS:C1864870|DOID:0110715|MESH:C566475		CSNBAD3|congenital stationary night blindness autosomal dominant type 3|Nougaret type congenital stationary night blindness|night blindness, congenital stationary, autosomal dominant 3|night blindness, congenital stationary, Nougaret type|night blindness, congenital stationary, autosomal dominant type 3|night blindness, congenital stationary, autosomal dominant 3; CSNBAD3	http://purl.obolibrary.org/obo/MONDO_0012497	A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the GNAT1 gene on chromosome 3p21.	UMLS:C1864870|MESH:C566475|http://identifiers.org/omim/610444|DOID:0110715
MONDO:0012490	cone-rod synaptic disorder, congenital nonprogressive	biolink:Disease	mondo	OMIM:610427|UMLS:C1864877		night blindness, congenital stationary, incomplete, autosomal recessive, formerly|night blindness, congenital stationary, incomplete, autosomal recessive|cone-rod synaptic disorder, congenital nonprogressive|CRSD|night blindness, congenital stationary, type 2B, formerly|night blindness, congenital stationary, type 2B|cone-rod synaptic disorder, congenital nonprogressive; CRSD	http://purl.obolibrary.org/obo/MONDO_0012490		UMLS:C1864877|http://identifiers.org/omim/610427
ENVO:01001110	ecosystem	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001110	An environmental system which includes both living and non-living components.	
MONDO:0012491	WM2	biolink:Disease	mondo	OMIM:610430	predisposition	WM2|macroglobulinemia, WALDENSTROM, susceptibility to, 2|macroglobulinemia, WALDENSTROM, susceptibility to, 2; WM2	http://purl.obolibrary.org/obo/MONDO_0012491		http://identifiers.org/omim/610430
MONDO:0036482	retinitis pigmentosa 81	biolink:Disease	mondo	DOID:0080292|OMIM:617871|UMLS:CN802781		retinitis pigmentosa 81; RP81|RP81	http://purl.obolibrary.org/obo/MONDO_0036482		DOID:0080292|UMLS:CN802781|http://identifiers.org/omim/617871
MONDO:0012494	testicular microlithiasis (disease)	biolink:Disease	mondo	MESH:C566478|OMIM:610441|HP:0012215|UMLS:C1864873		testicular microlithiasis	http://purl.obolibrary.org/obo/MONDO_0012494		UMLS:C1864873|MESH:C566478|http://identifiers.org/omim/610441
MONDO:0036483	short-rib thoracic dysplasia 18 with polydactyly	biolink:Disease	mondo	OMIM:617866|UMLS:CN795020|DOID:0080293		SRTD18|short-rib thoracic dysplasia 18 with polydactyly; SRTD18	http://purl.obolibrary.org/obo/MONDO_0036483		DOID:0080293|UMLS:CN795020|http://identifiers.org/omim/617866
MONDO:0036484	Charcot-Marie-Tooth disease, dominant intermediate G	biolink:Disease	mondo	UMLS:CN847583|DOID:0080294|OMIM:617882		Charcot-Marie-Tooth disease, dominant intermediate G; CMTDIG|Charcot-Marie-Tooth disease dominant intermediate G|CMTDIG	http://purl.obolibrary.org/obo/MONDO_0036484		UMLS:CN847583|DOID:0080294|http://identifiers.org/omim/617882
MONDO:0012495	spondyloepimetaphyseal dysplasia, Genevieve type	biolink:Disease	mondo	Orphanet:168454|UMLS:C1864872|OMIM:610442|MESH:C535785|DOID:0080576|ICD10:Q77.7|GARD:0010057	ordo_disease	SEMD, Geneviève type|spondyloepimetaphyseal dysplasia Genevieve type|SEMD, Genevieve type|SEMD Genevieve type|spondyloepimetaphyseal dysplasia, Genevieve type|spondyloepimetaphyseal dysplasia, Genevieve type; SEMDG|spondyloepimetaphyseal dysplasia, Geneviève type|SEMDG|Nans deficiency	http://purl.obolibrary.org/obo/MONDO_0012495	Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.	UMLS:C1864872|DOID:0080576|http://identifiers.org/omim/610442|MESH:C535785|ORPHA:168454
MONDO:0012492	restless legs syndrome, susceptibility to, 3	biolink:Disease	mondo	OMIM:610438|GARD:0010270	predisposition	restless legs syndrome, susceptibility to, 3|RLS3|restless legs syndrome, susceptibility to, 3; RLS3	http://purl.obolibrary.org/obo/MONDO_0012492		http://identifiers.org/omim/610438
MONDO:0012493	restless legs syndrome, susceptibility to, 4	biolink:Disease	mondo	OMIM:610439|GARD:0010271	predisposition	RLS4|restless legs syndrome, susceptibility to, 4|restless legs syndrome, susceptibility to, 4; RLS4|RLS 4	http://purl.obolibrary.org/obo/MONDO_0012493		http://identifiers.org/omim/610439
MONDO:0000498	arteritic anterior ischemic optic neuropathy	biolink:Disease	mondo	UMLS:C2242711|SCTID:733506009|DOID:0050863		arteritic aion	http://purl.obolibrary.org/obo/MONDO_0000498	An anterior ischemic neuropathy that is the cause of vision loss that occurs in temporal arteritis (aka giant cell arteritis)	SNOMEDCT:733506009|UMLS:C2242711|DOID:0050863
MONDO:0024465	surfactant metabolism dysfunction, pulmonary, 2	biolink:Disease	mondo	OMIM:610913		surfactant metabolism dysfunction, pulmonary, 2; SMDP2|desquamative interstitial pneumonitis due to surfactant Protein C deficiency|SMDP2|pulmonary alveolar proteinosis, congenital, 2|interstitial lung disease due to surfactant Protein C deficiency	http://purl.obolibrary.org/obo/MONDO_0024465		http://identifiers.org/omim/610913
HP:0011110	Tonsillitis	biolink:PhenotypicFeature	mondo	UMLS:C0040425|MSH:D014069|SNOMEDCT_US:90176007		Inflammation of tonsils	http://purl.obolibrary.org/obo/HP_0011110	An inflammation of the tonsils.	
MONDO:0024464	pituitary hormone deficiency, combined, 1	biolink:Disease	mondo	UMLS:C2751608|MESH:C567803|GARD:0010601|OMIM:613038		CPHD1|combined pituitary hormone deficiencies, genetic form caused by mutation in POU1F1|pituitary hormone deficiency, combined 1|pituitary hormone deficiency, combined, 1; CPHD1|POU1F1 combined pituitary hormone deficiencies, genetic form	http://purl.obolibrary.org/obo/MONDO_0024464	Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the POU1F1 gene.	UMLS:C2751608|http://identifiers.org/omim/613038|MESH:C567803
MONDO:0000497	pyometritis	biolink:Disease	mondo	SCTID:88981003|UMLS:C0034215|MESH:D055112|DOID:0050862|NCIT:C121207|UMLS:C0686163		myometrium inflammation|pyometra|inflammation of myometrium	http://purl.obolibrary.org/obo/MONDO_0000497	Inflammation of uterine musculature associated with pus in the uterine cavity.	UMLS:C0034215|SNOMEDCT:88981003|NCIT:C121207|MESH:D055112|UMLS:C0686163|DOID:0050862
MONDO:0024467	apocrine sweat gland disease	biolink:Disease	mondo	ICD10:L75		disease of apocrine sweat gland|disease or disorder of apocrine sweat gland|disorder of apocrine sweat gland|apocrine sweat gland disease|apocrine sweat gland disease or disorder|disorder of apocrine sweat gland	http://purl.obolibrary.org/obo/MONDO_0024467	A disease that involves the apocrine sweat gland.	
MONDO:0000496	hemorrhagic cystitis	biolink:Disease	mondo	UMLS:C0085692|DOID:0050859|SCTID:87696004|NCIT:C114666			http://purl.obolibrary.org/obo/MONDO_0000496	Inflammation of the bladder resulting in bloody urine.	UMLS:C0085692|SNOMEDCT:87696004|DOID:0050859|NCIT:C114666
MONDO:0024466	facial paresis, hereditary congenital, 1	biolink:Disease	mondo	OMIM:601471|UMLS:C1832284		Mobius syndrome 2, formerly|Moebius syndrome 2, formerly|Mobius syndrome 2|Moebius syndrome 2|HCFP1|facial palsy, congenital, unilateral or bilateral|facial paresis, hereditary congenital, 1; HCFP1	http://purl.obolibrary.org/obo/MONDO_0024466		http://identifiers.org/omim/601471|UMLS:C1832284
MONDO:0000495	oppositional defiant disorder (disease)	biolink:Disease	mondo	HP:0010865|SCTID:18941000|MESH:D019958|DOID:0050856|COHD:441547|ICD9:313.81|NCIT:C92565		oppositional defiant disorder	http://purl.obolibrary.org/obo/MONDO_0000495	A behavior disorder characterized by a persistent pattern of defiant, disobedient, and hostile behavior towards authority figures, manifested by a frequent loss of temper, arguing, becoming angry or vindictive, or other negativistic behaviors.	MESH:D019958|SNOMEDCT:18941000|NCIT:C92565|DOID:0050856
MONDO:0024469	chondrogenic neoplasm	biolink:Disease	mondo	UMLS:C0476147|NCIT:C4755		tumor of the cartilage|tumor of cartilage|cartilaginous tumor|chondromatous neoplasm|neoplasm of the cartilage|chondrogenic tumor|neoplasm of cartilage|chondrogenic neoplasm|chondromatous tumor|cartilaginous neoplasm	http://purl.obolibrary.org/obo/MONDO_0024469	A benign, intermediate, or malignant cartilaginous matrix-producing neoplasm. Representative examples include osteochondroma, chondroblastoma, and chondrosarcoma.	NCIT:C4755|UMLS:C0476147
ENVO:01001147	helium planet	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001147	A gas planet which has an atmosphere composed primarily of helium.	
MONDO:0024468	anterior pituitary gland disease	biolink:Disease	mondo	ICD9:253.9|ICD9:253.4|SCTID:51742006		adenohypophysis disease or disorder|disease of adenohypophysis|disorder of anterior pituitary|disorder of adenohypophysis|disorder of anterior pituitary gland|disorder of adenohypophysis|adenohypophysis disease|disease or disorder of adenohypophysis	http://purl.obolibrary.org/obo/MONDO_0024468	A disease that involves the adenohypophysis.	SNOMEDCT:51742006
MONDO:0000499	non-arteritic anterior ischemic optic neuropathy	biolink:Disease	mondo	DOID:0050864|UMLS:C1852242		nonarteritic anterior ischemic optic neuropathy|non-arteritic aion	http://purl.obolibrary.org/obo/MONDO_0000499		UMLS:C1852242|DOID:0050864
MONDO:0000490	glomerulosclerosis	biolink:Disease	mondo	UMLS:C0178664|DOID:0050851|SCTID:197661001|NCIT:C120888|COHD:261071		glomerular sclerosis	http://purl.obolibrary.org/obo/MONDO_0000490	A hardening of the kidney glomerulus caused by scarring of the blood vessels.	UMLS:C0178664|DOID:0050851|NCIT:C120888|SNOMEDCT:197661001
HP:0001789	Hydrops fetalis	biolink:PhenotypicFeature	mondo	MSH:D015160|UMLS:C0020305|SNOMEDCT_US:276508000			http://purl.obolibrary.org/obo/HP_0001789	The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.	
MONDO:0024461	angiomatosis	biolink:Disease	mondo	SCTID:205562004|MESH:D000798|NCIT:C27503|UMLS:C0002992		multiple hemangiomas|angiomatosis|diffuse angiomatosis|angiomatoses|diffuse hemangioma	http://purl.obolibrary.org/obo/MONDO_0024461	A benign diffuse vascular proliferation usually occurring in young adults. It is characterized by the formation of capillary-sized and cavernous vascular spaces. Patients present with diffuse persistent swelling.	SNOMEDCT:205562004|UMLS:C0002992|MESH:D000798|NCIT:C27503
MONDO:0000494	renal fibrosis	biolink:Disease	mondo	EFO:1001517|UMLS:C0151650|DOID:0050855|SCTID:197660000			http://purl.obolibrary.org/obo/MONDO_0000494	A final common manifestation of a wide variety of chronic kidney diseases characterized by glomerulosclerosis and tubulointerstitial fibrosis.	UMLS:C0151650|DOID:0050855|SNOMEDCT:197660000
MONDO:0000493	obsolete Muckle-Wells syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0000493		
MONDO:0024460	obsolete Herpesviridae infections	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0024460		
MONDO:0024463	ovarian dysgenesis 1	biolink:Disease	mondo	OMIM:233300|DOID:0080493		ovarian dysgenesis 1; ODG1|XX gonadal dysgenesis|gonadal dysgenesis, 20 type|ovarian dysgenesis, hypergonadotropic, autosomal recessive|gonadal dysgenesis, XX type|ovarian failure, hypergonadotropic|ovarian dysgenesis, hypergonadotropic, with normal karyotype|ODG1|XXGD	http://purl.obolibrary.org/obo/MONDO_0024463		http://identifiers.org/omim/233300|DOID:0080493
MONDO:0000492	chronic venous insufficiency	biolink:Disease	mondo	DOID:0050853|UMLS:C1306557|EFO:0007940		chronic venous insufficiency (disease)|venous insufficiency (disease), chronic	http://purl.obolibrary.org/obo/MONDO_0000492	Chronic form of venous insufficiency (disease).	UMLS:C1306557|DOID:0050853
MONDO:0024462	familial cutaneous melanoma	biolink:Disease	mondo	OMIMPS:155600		hereditary cutaneous melanoma (disease)	http://purl.obolibrary.org/obo/MONDO_0024462	An instance of cutaneous melanoma (disease) that is caused by an inherited modification of the individual's genome.	
MONDO:0000491	limb ischemia	biolink:Disease	mondo	DOID:0050852|SCTID:21631000119105|UMLS:C2945695		ischemic disease of limb|limb ischemia|limb ischemic disease	http://purl.obolibrary.org/obo/MONDO_0000491	A ischemia that involves the limb.	SNOMEDCT:21631000119105|DOID:0050852|UMLS:C2945695
MONDO:0012487	alopecia-intellectual disability syndrome 2	biolink:Disease	mondo	DOID:0080629|MESH:C563668|UMLS:C1835852|GARD:0004291|OMIM:610422		alopecia intellectual disability syndrome 2|alopecia-intellectual disability syndrome 2|alopecia with mild to moderate intellectual deficit|APMR2|AMR syndrome 2|alopecia-mental retardation syndrome 2|alopecia-mental retardation syndrome 2; APMR2|alopecia-intellectual disability syndrome 2; APMR2	http://purl.obolibrary.org/obo/MONDO_0012487		MESH:C563668|UMLS:C1835852|DOID:0080629|http://identifiers.org/omim/610422
MONDO:0012488	hepatitis B virus, susceptibility to	biolink:Disease	mondo	OMIM:610424|UMLS:C3552304	predisposition	hepatitis b virus, susceptibility to|Hepatitis B Virus, resistance to|HBV, resistance to|HBV, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0012488		UMLS:C3552304|http://identifiers.org/omim/610424
MONDO:0012485	autosomal recessive nonsyndromic deafness 68	biolink:Disease	mondo	MESH:C563669|DOID:0110519|OMIM:610419|UMLS:C1835854|ICD10:H90.3		S1PR2 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness caused by mutation in S1PR2|deafness, autosomal recessive 68; DFNB68|autosomal recessive deafness 68|DFNB68|autosomal recessive nonsyndromic deafness type 68|deafness, autosomal recessive 68	http://purl.obolibrary.org/obo/MONDO_0012485	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the S1PR2 gene.	MESH:C563669|UMLS:C1835854|http://identifiers.org/omim/610419|DOID:0110519
MONDO:0012486	preauricular tag, isolated, autosomal dominant, 1	biolink:Disease	mondo	MESH:C566904|UMLS:C1968893|OMIM:610420		preauricular Tag, isolated, autosomal dominant, type 1|preauricular tag, isolated, autosomal dominant, 1	http://purl.obolibrary.org/obo/MONDO_0012486		UMLS:C1968893|http://identifiers.org/omim/610420|MESH:C566904
HP:0001787	Abnormal delivery	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:274127000|UMLS:C0549629		Abnormal delivery|Delivery complication	http://purl.obolibrary.org/obo/HP_0001787	An abnormality of the birth process.	
MONDO:0012489	cataract 23	biolink:Disease	mondo	OMIM:610425|UMLS:C3808012|DOID:0110271|ICD10:Q12.0		cataract 23; CTRCT23|cataract 23, lamellar|cataract 23, multiple types, with or without microcornea|cataract 23|cataract 23, multiple types|CRYBA4 early-onset non-syndromic cataract|cataract type 23|CTRCT23|cataract 23, multiple types; CTRCT23|early-onset non-syndromic cataract caused by mutation in CRYBA4|lamellar cataract 23	http://purl.obolibrary.org/obo/MONDO_0012489	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA4 gene.	UMLS:C3808012|http://identifiers.org/omim/610425|DOID:0110271
ENVO:01001143	lava planet	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01001143	A planet which has a surface layer that nearly completely or completely covered by lava, and which has a substantial portion of its mass composed of lava.	
MONDO:0036491	obsolete rare childhood malignant neoplasm	biolink:Disease	mondo	NCIT:C114451|UMLS:C3828369	obsoletion_candidate	rare childhood malignant neoplasm|rare malignant childhood neoplasm|rare childhood cancer|Rare malignant neoplasm	http://purl.obolibrary.org/obo/MONDO_0036491	An infrequent malignant neoplasm that occurs during childhood.	UMLS:C3828369|NCIT:C114451
MONDO:0012480	diabetes mellitus, transient neonatal, 2	biolink:Disease	mondo	MESH:C563672|OMIM:610374|SCTID:609580007|UMLS:C1835887		ABCC8 transient neonatal diabetes mellitus (disease)|diabetes mellitus, transient neonatal, 2|diabetes mellitus, transient neonatal, type 2|transient neonatal diabetes mellitus (disease) caused by mutation in ABCC8|Tndm2	http://purl.obolibrary.org/obo/MONDO_0012480	Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the ABCC8 gene.	UMLS:C1835887|http://identifiers.org/omim/610374|SNOMEDCT:609580007|MESH:C563672
MONDO:0012483	cone-rod dystrophy 11	biolink:Disease	mondo	MESH:C563671|UMLS:C1835865|DOID:0111018|OMIM:610381		cone-rod dystrophy caused by mutation in RAX2|cone-rod dystrophy 11; CORD11|cone-rod dystrophy type 11|cone-rod dystrophy 11|RAX2 cone-rod dystrophy|CORD11	http://purl.obolibrary.org/obo/MONDO_0012483	Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAX2 gene.	UMLS:C1835865|DOID:0111018|http://identifiers.org/omim/610381|MESH:C563671
MONDO:0012484	prosopagnosia, hereditary	biolink:Disease	mondo	GARD:0010035|UMLS:C2931455|OMIM:610382		congenital prosopagnosia|face blindness|prosopagnosia, developmental|prosopagnosia, congenital|hereditary prosopagnosia|prosopagnosia, hereditary|developmental prosopagnosia|hereditary prosopagnosia (disease)	http://purl.obolibrary.org/obo/MONDO_0012484	An instance of prosopagnosia (disease) that is caused by an inherited modification of the individual's genome.	UMLS:C2931455|http://identifiers.org/omim/610382
MONDO:0012481	mevalonic aciduria	biolink:Disease	mondo	NCIT:C84890|OMIM:610377|MedDRA:10072219|UMLS:C1959626|Orphanet:29|GARD:0003588|SCTID:718558008|DOID:0050452|ICD10:E88.8	gard_rare|ordo_disease	mevalonic aciduria|HIDS|mevalonate kinase deficiency|hyperimmunoglobulin D with periodic fever syndrome|mevalonic aciduria; MEVA|complete mevalonate kinase deficiency|Mevalonicaciduria|MVA|MEVA|MKD	http://purl.obolibrary.org/obo/MONDO_0012481	Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.	NCIT:C84890|MESH:D054078|DOID:0050452|SNOMEDCT:718558008|UMLS:C1959626|http://identifiers.org/omim/610377|UMLS:C0342731|MEDDRA:10072219|ORPHA:29
MONDO:0012482	West Nile virus, susceptibility to	biolink:Disease	mondo	OMIM:610379	predisposition	West Nile virus, susceptibility to|WNV, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0012482		http://identifiers.org/omim/610379
MONDO:0024454	sacral nerve plexus disease	biolink:Disease	mondo	MESH:C537224|GARD:0007597|UMLS:C2931445		disorder of sacral nerve plexus|sacral plexopathy|disorder of sacral nerve plexus|disease or disorder of sacral nerve plexus|sacral nerve plexus disorder|sacral nerve plexus disease or disorder|disease of sacral nerve plexus	http://purl.obolibrary.org/obo/MONDO_0024454	A disease that involves the sacral nerve plexus.	UMLS:C2931445|MESH:C537224
MONDO:0024456	anterior segment dysgenesis 3	biolink:Disease	mondo	DOID:0080608|GARD:0002482|GARD:0002978|MESH:C535535|OMIM:601631	gard_rare	anterior segment dysgenesis 3|IGDA syndrome|iris hypoplasia with glaucoma|IGDA|iridogoniodysgenesis, type 1; IRID1|FOXC1 iridogoniodysgenesis|ASGD3|anterior segment dysgenesis 3; ASGD3|iridogoniodysgenesis, type 1|iridogoniodysgenesis type 1|glaucoma iridogoniodysplasia, familial|IRID1|iridogoniodysgenesis anomaly, autosomal dominant|glaucoma iridogoniodysgenesia|iridogoniodysgenesis caused by mutation in FOXC1	http://purl.obolibrary.org/obo/MONDO_0024456	An iridogoniodysgenesis that results from alterations in the forkhead transcription factor gene (FOXC1)	MESH:C535535|http://identifiers.org/omim/601631|DOID:0080608
MONDO:0024455	autosomal dominant Robinow syndrome 1	biolink:Disease	mondo	DOID:0060766|OMIM:180700		autosomal dominant Robinow syndrome caused by mutation in WNT5A|DRS1|fetal face syndrome|Robinow dwarfism|Robinow syndrome, autosomal dominant 1; DRS1|acral dysostosis with Facial and genital abnormalities|WNT5A autosomal dominant Robinow syndrome|Robinow syndrome, autosomal dominant 1	http://purl.obolibrary.org/obo/MONDO_0024455	Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the WNT5A gene.	http://identifiers.org/omim/180700|DOID:0060766
MONDO:0024458	disease of visual system	biolink:Disease	mondo	SCTID:128127008		visual system disease|disease or disorder of visual system|visual system disease or disorder|disease of visual system|disorder of visual system|visual system disorder|disorder of visual system	http://purl.obolibrary.org/obo/MONDO_0024458	A disease that involves the visual system.	SNOMEDCT:128127008
ENVO:01001136	ocean planet	biolink:OntologyClass	mondo			water world|panthalassic planet|aquaplanet	http://purl.obolibrary.org/obo/ENVO_01001136	A planet which has a surface layer that nearly completely or completely covered by water, and which has a substantial portion of its mass composed of water.	
MONDO:0024457	neurodegeneration with brain iron accumulation 2A	biolink:Disease	mondo	GARD:0002751|OMIM:256600|DOID:0110735		neurodegeneration with brain iron accumulation type 2a|neurodegeneration, Pla2g6-associated|Seitelberger disease|neurodegeneration with brain iron accumulation 2A|Hunter Carpenter Macdonald syndrome|inaD|INAD1|NBIA2a|NBIA2A|neurodegeneration with brain iron accumulation type 2A|neurodegeneration, Pla2G6-associated|neurodegeneration, PLA2G6-associated|neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene|infantile neuroaxonal dystrophy 1|neurodegeneration with brain iron accumulation 2A; NBIA2A|neuroaxonal dystrophy, infantile	http://purl.obolibrary.org/obo/MONDO_0024457		http://identifiers.org/omim/256600|DOID:0110735
ENVO:01001135	desert planet	biolink:OntologyClass	mondo			dry planet	http://purl.obolibrary.org/obo/ENVO_01001135	A terrestrial planet which has a surface dominated by hot deserts.	
MONDO:0024459	Aeromonas hydrophila intestinal disease	biolink:Disease	mondo	ICD9:008.47|SCTID:446988001|UMLS:C2960005		intestinal infection due to Aeromonas hydrophila|intestinal infection caused by Aeromonas hydrophila	http://purl.obolibrary.org/obo/MONDO_0024459		UMLS:C2960005|SNOMEDCT:446988001
ENVO:01001137	ice planet	biolink:OntologyClass	mondo			cryoplanet	http://purl.obolibrary.org/obo/ENVO_01001137	A planet which has a surface layer that nearly completely or completely covered by ice, and which has a substantial portion of its mass composed of ice.	
MONDO:0012476	hereditary spastic paraplegia 30	biolink:Disease	mondo	ICD10:G11.4|Orphanet:101010|DOID:0110781|SCTID:763377006|UMLS:C1835896|MESH:C563677|OMIM:610357	ordo_disease	autosomal recessive spastic paraplegia 30|spastic paraplegia 30, autosomal recessive|autosomal spastic paraplegia type 30|KIF1A hereditary spastic paraplegia|spastic paraplegia 30, autosomal recessive; SPG30|SPG30|hereditary spastic paraplegia caused by mutation in KIF1A|hereditary spastic paraplegia type 30	http://purl.obolibrary.org/obo/MONDO_0012476	Autosomal spastic paraplegia type 30 (SPG30) is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, usteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.	DOID:0110781|MESH:C563677|ORPHA:101010|UMLS:C1835896|SNOMEDCT:763377006|http://identifiers.org/omim/610357
MONDO:0012477	retinitis pigmentosa 33	biolink:Disease	mondo	DOID:0110366|MESH:C563676|OMIM:610359|GARD:0010400|UMLS:C1835895|ICD10:H35.5	gard_rare	retinitis pigmentosa 33|retinitis pigmentosa caused by mutation in SNRNP200|SNRNP200 retinitis pigmentosa|RP 33|retinitis pigmentosa type 33|RP33|retinitis pigmentosa 33; RP33	http://purl.obolibrary.org/obo/MONDO_0012477	Any retinitis pigmentosa in which the cause of the disease is a mutation in the SNRNP200 gene.	MESH:C563676|UMLS:C1835895|http://identifiers.org/omim/610359|DOID:0110366
MONDO:0012474	autosomal dominant nocturnal frontal lobe epilepsy 4	biolink:Disease	mondo	MESH:C563679|OMIM:610353|DOID:0060685|UMLS:C1835905		ENFL4|autosomal dominant nocturnal frontal lobe epilepsy type 4|epilepsy, nocturnal frontal lobe, 4|nocturnal frontal lobe epilepsy 4|seizures, benign familial infantile, 6|CHRNA2 autosomal dominant nocturnal frontal lobe epilepsy|epilepsy, nocturnal frontal lobe, 4; ENFL4|epilepsy, familial, with nocturnal wandering and Ictal fear|autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNA2|epilepsy, nocturnal frontal lobe, type 4|convulsions, benign familial infantile, 6	http://purl.obolibrary.org/obo/MONDO_0012474	Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA2 gene.	MESH:C563679|DOID:0060685|UMLS:C1835905|http://identifiers.org/omim/610353
HP:0001792	Small nail	biolink:PhenotypicFeature	mondo	UMLS:C0263523|SNOMEDCT_US:11375002		Nail hypoplasia|Hypoplastic nails|Small nails|Small nail|Hypoplastic nail	http://purl.obolibrary.org/obo/HP_0001792	A nail that is diminished in length and width, i.e., underdeveloped nail.	
MONDO:0012475	cone dystrophy with supernormal rod response	biolink:Disease	mondo	SCTID:719455002|UMLS:C4304714|ICD10:H35.5|GARD:0010649|OMIM:610356|MESH:C563678|UMLS:C1835897|Orphanet:209932	ordo_disease	cone dystrophy with supernormal rod electroretinogram|RCD3B|cone dystrophy with supernormal rod ERG|cone dystrophy with night blindness and supernormal rod responses KCNV2 related|cone dystrophy with supernormal scotopic electroretinogram|retinal cone dystrophy type 3B|cone dystrophy with night blindness and supernormal Rod responses, Kcnv2-related|cone dystrophy with supernormal Rod responses|retinal cone dystrophy 3B; RCD3B|retinal cone dystrophy 3B	http://purl.obolibrary.org/obo/MONDO_0012475	Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation.	MESH:C563678|UMLS:C1835897|UMLS:C4304714|ORPHA:209932|http://identifiers.org/omim/610356|SNOMEDCT:719455002
MONDO:0012478	orofacial cleft 9	biolink:Disease	mondo	OMIM:610361|UMLS:C1835894|DOID:0080402|MESH:C563675		orofacial cleft 9; OFC9|orofacial cleft 9|OFC9|cleft lip with or without cleft palate, nonsyndromic, 9	http://purl.obolibrary.org/obo/MONDO_0012478		MESH:C563675|UMLS:C1835894|DOID:0080402|http://identifiers.org/omim/610361
MONDO:0012479	congenital malabsorptive diarrhea 4	biolink:Disease	mondo	UMLS:C1835888|SCTID:722392003|Orphanet:83620|DOID:0060779|OMIM:610370|MESH:C563673|ICD10:P78.3	ordo_disease	congenital malabsorptive diarrhea type 4|congenital malabsorptive diarrhea due to paucity of enteroendocrine cells|diarrhea 4, malabsorptive, congenital; DIAR4|diarrhea 4, malabsorptive, congenital|enteric anendocrinosis|NEUROG3 congenital diarrhea|congenital diarrhea caused by mutation in NEUROG3|DIAR4	http://purl.obolibrary.org/obo/MONDO_0012479	Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells is an exceedingly rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration, and severe diarrhea unresponsive to various nutrients and formulas, and require home parenteral nutrition. Diabetes mellitus has also been reported.	ORPHA:83620|MESH:C563673|DOID:0060779|UMLS:C1835888|SNOMEDCT:722392003|http://identifiers.org/omim/610370
HP:0011107	Recurrent aphthous stomatitis	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:110426005|SNOMEDCT_US:427617000|MSH:D013281|UMLS:C0038363|SNOMEDCT_US:426965005|UMLS:C2937365|SNOMEDCT_US:398870000		Recurrent oral aphthae|Buccal aphthous ulcers|Aphthous stomatitis|Recurrent canker sores|Recurrent aphthous ulcers	http://purl.obolibrary.org/obo/HP_0011107	Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.	
MONDO:0012472	Aicardi-Goutieres syndrome 4	biolink:Disease	mondo	UMLS:C1835912|GARD:0010896|OMIM:610333|MESH:C563681		Aicardi-Goutieres syndrome 4|Aicardi-Goutieres syndrome caused by mutation in RNASEH2A|Aicardi-Goutieres syndrome 4; AGS4|RNASEH2A-related Aicardi-Goutieres syndrome|AGS4|Aicardi-Goutieres syndrome type 4|RNASEH2A Aicardi-Goutieres syndrome	http://purl.obolibrary.org/obo/MONDO_0012472	Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2A gene.	MESH:C563681|UMLS:C1835912|http://identifiers.org/omim/610333
MONDO:0012473	right pulmonary artery, anomalous origin of, familial	biolink:Disease	mondo	MESH:C535681|OMIM:610338|UMLS:C1835910|GARD:0010146	gard_rare	familial anomalous origin of right pulmonary artery|familial ARPA|Arpa, familial|ARPA familial|anomalous origin of right pulmonary artery familial|right pulmonary artery, anomalous origin of, familial|right pulmonary artery, anomalous origin of, with ventricular septal defect, patent Foramen ovale, and patent ductus arteriosus	http://purl.obolibrary.org/obo/MONDO_0012473		UMLS:C1835910|http://identifiers.org/omim/610338|MESH:C535681
MONDO:0012470	HPC7	biolink:Disease	mondo	UMLS:C1853195|MESH:C565201|OMIM:610321		prostate cancer aggressiveness|HPC7|prostate cancer, hereditary, 7; HPC7|prostate cancer, hereditary, 7	http://purl.obolibrary.org/obo/MONDO_0012470		MESH:C565201|http://identifiers.org/omim/610321|UMLS:C1853195
MONDO:0012471	Aicardi-Goutieres syndrome 3	biolink:Disease	mondo	OMIM:610329|UMLS:C1835916|GARD:0010895|MESH:C563683		Aicardi-Goutieres syndrome caused by mutation in RNASEH2C|RNASEH2C -related Aicardi-Goutieres syndrome|RNASEH2C Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome type 3|AGS3|Aicardi-Goutieres syndrome 3|Aicardi-Goutieres syndrome 3; AGS3	http://purl.obolibrary.org/obo/MONDO_0012471	Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2C gene.	MESH:C563683|UMLS:C1835916|http://identifiers.org/omim/610329
CHEBI:77307	cardioprotective agent	biolink:ChemicalSubstance	mondo			cardioprotective agents	http://purl.obolibrary.org/obo/CHEBI_77307	Any protective agent that is able to prevent damage to the heart.	
MONDO:0024498	glioma susceptibility 1	biolink:Disease	mondo	OMIM:137800	predisposition	astrocytoma|glioblastoma multiforme|glioma of brain, familial|ependymoma|subependymoma|GLM1|glioma susceptibility 1; GLM1|oligodendroglioma	http://purl.obolibrary.org/obo/MONDO_0024498		http://identifiers.org/omim/137800
MONDO:0024497	tumor grade 3 or 4, general grading system	biolink:Disease	mondo	NCIT:C14158		high grade|grade 3/4	http://purl.obolibrary.org/obo/MONDO_0024497	Used to describe tumor samples that exhibit poorly differentiated or undifferentiated cells. They are generally expected to be fast growing and aggressive.	NCIT:C14158
MONDO:0024499	vascular bone neoplasm	biolink:Disease	mondo	NCIT:C6478|UMLS:C1336946		osseous vascular neoplasm|osseous vascular tumor|bone vascular neoplasm|vascular bone neoplasm|vascular neoplasm of bone|vascular neoplasm of the bone|vascular tumor of bone|bone vascular tumor|vascular tumor of the bone	http://purl.obolibrary.org/obo/MONDO_0024499	A benign, intermediate, or malignant vascular neoplasm that arises from the bone.	UMLS:C1336946|NCIT:C6478
HP:0011146	Dialeptic seizure	biolink:PhenotypicFeature	mondo			Unknown onset behavioural arrest seizure with impairment of awareness|Unknown onset behavioral arrest seizure with impairment of awareness|Behavioral arrest seizure with impairment of awareness irrespective of onset	http://purl.obolibrary.org/obo/HP_0011146	A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event.	
HP:0011147	Typical absence seizure	biolink:PhenotypicFeature	mondo	MSH:D004832|SNOMEDCT_US:432241000124101|SNOMEDCT_US:79631006|SNOMEDCT_US:50866000|UMLS:C0014553|SNOMEDCT_US:230413002		Typical absence|Typical absence seizures	http://purl.obolibrary.org/obo/HP_0011147	A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event.	
MONDO:0024490	tumor grade X, general grading system	biolink:Disease	mondo			undetermined grade	http://purl.obolibrary.org/obo/MONDO_0024490		
MONDO:0024492	tumor grade 2, general grading system	biolink:Disease	mondo	EFO:0005746|NCIT:C28078		moderately differentiated|intermediate grade|grade 2|grade II|G2	http://purl.obolibrary.org/obo/MONDO_0024492	A morphologic qualifier indicating that a cancerous lesion is moderately differentiated.	NCIT:C28078
MONDO:0024491	tumor grade 1, general grading system	biolink:Disease	mondo	LOINC:LA9629-2|NCIT:C28077|UMLS:C0475269		well differentiated|grade I|low grade|grade 1|G1	http://purl.obolibrary.org/obo/MONDO_0024491	A morphologic qualifier indicating that a cancerous lesion is well differentiated.	UMLS:C0475269|NCIT:C28077
MONDO:0024494	tumor grade 4, general grading system	biolink:Disease	mondo	NCIT:C28082		grade 4|G4|high grade|grade IV|undifferentiated	http://purl.obolibrary.org/obo/MONDO_0024494	A morphologic qualifier indicating that a cancerous lesion is undifferentiated.	NCIT:C28082
MONDO:0024493	tumor grade 3, general grading system	biolink:Disease	mondo	NCIT:C28079|UMLS:C0475271		poorly differentiated|grade III|high grade|grade 3|G3	http://purl.obolibrary.org/obo/MONDO_0024493	A morphologic qualifier indicating that a cancerous lesion is poorly differentiated.	UMLS:C0475271|NCIT:C28079
MONDO:0024496	tumor grade 2 or 3, general grading system	biolink:Disease	mondo	NCIT:C94678		grade 2/3	http://purl.obolibrary.org/obo/MONDO_0024496	A morphologic qualifier indicating that a neoplastic lesion is moderately to poorly differentiated.	NCIT:C94678
MONDO:0024495	tumor grade 1 or 2, general grading system	biolink:Disease	mondo			grade 1/2	http://purl.obolibrary.org/obo/MONDO_0024495		
NCBITaxon:121229	Pthiridae	organism taxon	mondo	GC_ID:1		Phthiridae|pubic lice	http://purl.obolibrary.org/obo/NCBITaxon_121229		
NCBITaxon:121228	Pthirus pubis	organism taxon	mondo	GC_ID:1		genital louse|crab louse|Phtirus pubis|Phthirus pubis|public louse	http://purl.obolibrary.org/obo/NCBITaxon_121228		
NCBITaxon:121227	Pthirus	organism taxon	mondo	GC_ID:1		Phthirus|Phtirus	http://purl.obolibrary.org/obo/NCBITaxon_121227		
NCBITaxon:121222	Pediculus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_121222		
NCBITaxon:121221	Pediculidae	organism taxon	mondo	GC_ID:1		primate body lice|body lice	http://purl.obolibrary.org/obo/NCBITaxon_121221		
NCBITaxon:121226	Pediculus humanus capitis	organism taxon	mondo	PMID:23049889|GC_ID:1|PMID:18434207		Pediculus capitis|human head louse|human head lice	http://purl.obolibrary.org/obo/NCBITaxon_121226		
NCBITaxon:121225	Pediculus humanus	organism taxon	mondo	PMID:23049889|GC_ID:1|PMID:18434207		human lice|human louse|head lice|body lice	http://purl.obolibrary.org/obo/NCBITaxon_121225		
NCBITaxon:121224	Pediculus humanus corporis	organism taxon	mondo	PMID:23049889|GC_ID:1|PMID:18434207		human body lice|human body louse|Pediculus humanus humanus	http://purl.obolibrary.org/obo/NCBITaxon_121224		
GO:0006144	purine nucleobase metabolic process	biolink:OntologyClass	mondo			purine base metabolic process|purine metabolic process|purine base metabolism|purine metabolism	http://purl.obolibrary.org/obo/GO_0006144	The chemical reactions and pathways involving purine nucleobases, one of the two classes of nitrogen-containing ring compounds found in DNA and RNA, which include adenine and guanine.	
GO:0006142	regulation of pyrimidine nucleobase metabolic process	biolink:OntologyClass	mondo			regulation of pyrimidine base metabolic process|regulation of pyrimidine base metabolism	http://purl.obolibrary.org/obo/GO_0006142	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving pyrimidine nucleobases.	
GO:0006140	regulation of nucleotide metabolic process	biolink:OntologyClass	mondo			regulation of nucleotide metabolism	http://purl.obolibrary.org/obo/GO_0006140	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nucleotides.	
GO:0006141	regulation of purine nucleobase metabolic process	biolink:OntologyClass	mondo			regulation of purine base metabolic process|regulation of purine base metabolism	http://purl.obolibrary.org/obo/GO_0006141	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving purines.	
GO:0045759	negative regulation of action potential	biolink:OntologyClass	mondo			down regulation of action potential|inhibition of action potential|down-regulation of action potential|downregulation of action potential	http://purl.obolibrary.org/obo/GO_0045759	Any process that stops, prevents, or reduces the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels.	
GO:0033764	steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0033764	Catalysis of an oxidation-reduction (redox) reaction in which a CH-OH group acts as a hydrogen or electron donor and reduces NAD+ or NADP, and in which one substrate is a sterol derivative.	
GO:0045763	negative regulation of cellular amino acid metabolic process	biolink:OntologyClass	mondo			inhibition of amino acid metabolic process|down-regulation of amino acid metabolic process|negative regulation of amino acid metabolism|downregulation of amino acid metabolic process|down regulation of amino acid metabolic process	http://purl.obolibrary.org/obo/GO_0045763	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving amino acid.	
GO:0045764	positive regulation of cellular amino acid metabolic process	biolink:OntologyClass	mondo			upregulation of amino acid metabolic process|positive regulation of amino acid metabolism|up regulation of amino acid metabolic process|stimulation of amino acid metabolic process|activation of amino acid metabolic process|up-regulation of amino acid metabolic process	http://purl.obolibrary.org/obo/GO_0045764	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving amino acid.	
GO:0045760	positive regulation of action potential	biolink:OntologyClass	mondo			up regulation of action potential|stimulation of action potential|up-regulation of action potential|activation of action potential|upregulation of action potential	http://purl.obolibrary.org/obo/GO_0045760	Any process that activates or increases the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels.	
GO:0018130	heterocycle biosynthetic process	biolink:OntologyClass	mondo			heterocycle anabolism|heterocycle biosynthesis|heterocycle synthesis|heterocycle formation	http://purl.obolibrary.org/obo/GO_0018130	The chemical reactions and pathways resulting in the formation of heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings).	
FOODON:03400217	meat, poultry, seafood or related product (us cfr)	biolink:OntologyClass	mondo	http://www.langual.org/langual_thesaurus.asp?termid=A0217			http://purl.obolibrary.org/obo/FOODON_03400217	Products of the flesh of animals. [FDA CFSAN 1995]	
HGNC:21580	KIAA0319	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21580		
GO:0045778	positive regulation of ossification	biolink:OntologyClass	mondo			positive regulation of bone formation|positive regulation of bone biosynthesis|upregulation of ossification|stimulation of ossification|up regulation of ossification|activation of ossification|up-regulation of ossification	http://purl.obolibrary.org/obo/GO_0045778	Any process that activates or increases the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance.	
GO:0045779	negative regulation of bone resorption	biolink:OntologyClass	mondo			down-regulation of bone resorption|down regulation of bone resorption|downregulation of bone resorption|inhibition of bone resorption	http://purl.obolibrary.org/obo/GO_0045779	Any process that stops, prevents, or reduces the frequency, rate or extent of bone resorption.	
FOODON:03412215	mud crab family	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03412215	Mud crab may refer to any crab that lives in or near mud, such as: species from family *Portunidae*, such as *Scylla serrata*; *Scylla tranquebarica*; *Scylla paramamosain*; members of the family *Panopeidae*, such as *Panopeus herbstii*; members of the family *Xanthidae*; *Helice crassa*, the tunnelling mud crab. [https://en.wikipedia.org/wiki/Mud_crab]	
GO:0045780	positive regulation of bone resorption	biolink:OntologyClass	mondo			up-regulation of bone resorption|up regulation of bone resorption|activation of bone resorption|stimulation of bone resorption|upregulation of bone resorption	http://purl.obolibrary.org/obo/GO_0045780	Any process that activates or increases the frequency, rate or extent of bone resorption.	
GO:0006139	nucleobase-containing compound metabolic process	biolink:OntologyClass	mondo			cellular nucleobase, nucleoside, nucleotide and nucleic acid metabolism|nucleobase, nucleoside and nucleotide metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolism|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|cellular nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	http://purl.obolibrary.org/obo/GO_0006139	Any cellular metabolic process involving nucleobases, nucleosides, nucleotides and nucleic acids.	
GO:0045787	positive regulation of cell cycle	biolink:OntologyClass	mondo			stimulation of progression through cell cycle|up-regulation of progression through cell cycle|positive regulation of cell cycle progression|activation of progression through cell cycle|upregulation of progression through cell cycle|positive regulation of progression through cell cycle|up regulation of progression through cell cycle	http://purl.obolibrary.org/obo/GO_0045787	Any process that activates or increases the rate or extent of progression through the cell cycle.	
GO:0043124	negative regulation of I-kappaB kinase/NF-kappaB signaling	biolink:OntologyClass	mondo			downregulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of I-kappaB kinase/NF-kappaB cascade|down-regulation of I-kappaB kinase/NF-kappaB cascade|inhibition of I-kappaB kinase/NF-kappaB cascade|down regulation of I-kappaB kinase/NF-kappaB cascade	http://purl.obolibrary.org/obo/GO_0043124	Any process that stops, prevents, or reduces the frequency, rate or extent of -kappaB kinase/NF-kappaB signaling.	
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	biolink:OntologyClass	mondo			up-regulation of I-kappaB kinase/NF-kappaB cascade|stimulation of I-kappaB kinase/NF-kappaB cascade|up regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|upregulation of I-kappaB kinase/NF-kappaB cascade|activation of I-kappaB kinase/NF-kappaB cascade	http://purl.obolibrary.org/obo/GO_0043123	Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling.	
GO:0045785	positive regulation of cell adhesion	biolink:OntologyClass	mondo			up-regulation of cell adhesion|up regulation of cell adhesion|activation of cell adhesion|stimulation of cell adhesion|upregulation of cell adhesion	http://purl.obolibrary.org/obo/GO_0045785	Any process that activates or increases the frequency, rate or extent of cell adhesion.	
GO:0045786	negative regulation of cell cycle	biolink:OntologyClass	mondo			downregulation of progression through cell cycle|down regulation of progression through cell cycle|inhibition of progression through cell cycle|down-regulation of progression through cell cycle|negative regulation of progression through cell cycle|negative regulation of cell cycle progression	http://purl.obolibrary.org/obo/GO_0045786	Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle.	
GO:0043122	regulation of I-kappaB kinase/NF-kappaB signaling	biolink:OntologyClass	mondo			regulation of I-kappaB kinase/NF-kappaB cascade	http://purl.obolibrary.org/obo/GO_0043122	Any process that modulates I-kappaB kinase/NF-kappaB signaling.	
GO:0070727	cellular macromolecule localization	biolink:OntologyClass	mondo			cellular macromolecule localisation	http://purl.obolibrary.org/obo/GO_0070727	Any process in which a macromolecule is transported to, and/or maintained in, a specific location at the level of a cell. Localization at the cellular level encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell.	
GO:0043129	surfactant homeostasis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0043129	Any process involved in the maintenance of a steady-state level of the surface-active lipoprotein mixture which coats the alveoli.	
NCBITaxon:7088	Lepidoptera	organism taxon	mondo	GC_ID:1		moths|butterflies and moths|moths	http://purl.obolibrary.org/obo/NCBITaxon_7088		
GO:0006109	regulation of carbohydrate metabolic process	biolink:OntologyClass	mondo			regulation of carbohydrate metabolism	http://purl.obolibrary.org/obo/GO_0006109	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving carbohydrates.	
UBERON:0005704	secondary palatal shelf mesenchyme	biolink:AnatomicalEntity	mondo			palatal shelf mesenchyme	http://purl.obolibrary.org/obo/UBERON_0005704	Mesenchyme that is part of a developing secondary palatal shelf.	
GO:0006101	citrate metabolic process	biolink:OntologyClass	mondo			citrate metabolism	http://purl.obolibrary.org/obo/GO_0006101	The chemical reactions and pathways involving citrate, 2-hydroxy-1,2,3-propanetricarboyxlate. Citrate is widely distributed in nature and is an important intermediate in the TCA cycle and the glyoxylate cycle.	
HP:0040290	obsolete Abnormality of skeletal muscles	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0040290		
GO:0055114	obsolete oxidation-reduction process	biolink:OntologyClass	mondo			oxidation reduction|oxidoreductase process	http://purl.obolibrary.org/obo/GO_0055114	OBSOLETE. A metabolic process that results in the removal or addition of one or more electrons to or from a substance, with or without the concomitant removal or addition of a proton or protons.	
UBERON:0005712	midgut duodenum mesentery	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005712	A mesentery of duodenum that is part of a midgut.	
UBERON:0005711	foregut duodenum mesentery	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005711	A mesentery of duodenum that is part of a foregut.	
HGNC:33551	NDUFAF8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/33551		
HGNC:21576	NHLRC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21576		
GO:0006119	oxidative phosphorylation	biolink:OntologyClass	mondo			respiratory-chain phosphorylation	http://purl.obolibrary.org/obo/GO_0006119	The phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis.	
HGNC:21575	AHI1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21575		
GO:0006111	regulation of gluconeogenesis	biolink:OntologyClass	mondo			regulation of gluconeogenesis involved in cellular glucose homeostasis|regulation of glucose biosynthesis|regulation of glucose biosynthetic process	http://purl.obolibrary.org/obo/GO_0006111	Any process that modulates the frequency, rate or extent of gluconeogenesis, the formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol.	
GO:0006112	energy reserve metabolic process	biolink:OntologyClass	mondo			energy reserve metabolism	http://purl.obolibrary.org/obo/GO_0006112	The chemical reactions and pathways by which a cell derives energy from stored compounds such as fats or glycogen.	
NCBITaxon:1980613	unclassified Bunyavirales	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1980613		
MONDO:0043494	arteritis	biolink:Disease	mondo	HP:0012089|EFO:0009011|NCIT:C34399|MESH:D001167|SCTID:52089001		inflammation of artery|arterial Inflammation|arteritis|Inflammation, arterial|Arteritides|artery inflammation	http://purl.obolibrary.org/obo/MONDO_0043494	An inflammatory process affecting an artery.	NCIT:C34399|MESH:D001167|SNOMEDCT:52089001
GO:0006110	regulation of glycolytic process	biolink:OntologyClass	mondo			regulation of glycolysis involved in cellular glucose homeostasis	http://purl.obolibrary.org/obo/GO_0006110	Any process that modulates the frequency, rate or extent of glycolysis.	
GO:0043143	regulation of translation by machinery localization	biolink:OntologyClass	mondo			translational protein localization|establishment and maintenance of translational machinery localization|regulation of translation by machinery localisation|establishment and maintenance of translational protein localization|translational machinery localization	http://purl.obolibrary.org/obo/GO_0043143	Any process in which proteins and protein complexes involved in translation are transported to, or maintained in, a specific location.	
UBERON:0005702	optic eminence mesenchyme	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005702	Mesenchyme that is part of a optic eminence.	
GO:0055123	digestive system development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0055123	The process whose specific outcome is the progression of the digestive system over time, from its formation to the mature structure. The digestive system is the entire structure in which digestion takes place. Digestion is all of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism.	
NCBITaxon:92251	Trombiculidae	organism taxon	mondo	GC_ID:1		redbugs|harvest mites|chiggers	http://purl.obolibrary.org/obo/NCBITaxon_92251		
HGNC:1606	CCR5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1606		
GO:0008757	S-adenosylmethionine-dependent methyltransferase activity	biolink:OntologyClass	mondo			S-adenosyl methionine-dependent methyltransferase activity|SAM-dependent methyltransferase activity	http://purl.obolibrary.org/obo/GO_0008757	Catalysis of the transfer of a methyl group from S-adenosyl-L-methionine to a substrate.	
HGNC:21555	EYS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21555		
HGNC:21558	RSPH4A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21558		
GO:0043168	anion binding	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0043168	Interacting selectively and non-covalently with anions, charged atoms or groups of atoms with a net negative charge.	
GO:0043167	ion binding	biolink:OntologyClass	mondo			atom binding	http://purl.obolibrary.org/obo/GO_0043167	Interacting selectively and non-covalently with ions, charged atoms or groups of atoms.	
MONDO:0018480	carcinoma of esophagus, salivary gland type	biolink:Disease	mondo	Orphanet:418945|ICD10:C15.8|ICD10:C15.5|ICD10:C15.4|ICD10:C15.3|ICD10:C15.2|ICD10:C15.1|ICD10:C15.0|UMLS:CN237468	ordo_disease	esophageal carcinoma, salivary gland type	http://purl.obolibrary.org/obo/MONDO_0018480		ORPHA:418945|UMLS:CN237468
MONDO:0018482	obsolete squamous cell carcinoma of stomach	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018482		
MONDO:0018481	undifferentiated carcinoma of esophagus	biolink:Disease	mondo	ICD10:C15.2|ICD10:C15.1|ICD10:C15.0|Orphanet:418951|ICD10:C15.8|UMLS:CN237469|ICD10:C15.5|NCIT:C27422|UMLS:C2188058|ICD10:C15.4|ICD10:C15.3	ordo_disease	undifferentiated esophageal carcinoma|undifferentiated esophageal cancer|esophageal undifferentiated carcinoma|esophagus undifferentiated carcinoma	http://purl.obolibrary.org/obo/MONDO_0018481	An esophageal carcinoma characterized by the absence of microscopic features of squamous differentiation. However, there is immunohistochemical evidence of squamous differentiation.	NCIT:C27422|ORPHA:418951|UMLS:C2188058|UMLS:CN237469
MONDO:0006499	hamartoma (disease)	biolink:Disease	mondo	NCIT:C3075|MESH:D006222|HP:0010566|UMLS:C0018552|EFO:1000634|SCTID:400006008|ICD9:759.6		hamartoma	http://purl.obolibrary.org/obo/MONDO_0006499	A benign and excessive tumor-like growth of mature cells and normal tissues which grow in a disorganized pattern.	SNOMEDCT:400006008|MESH:D006222|UMLS:C0018552|NCIT:C3075
MONDO:0006497	cerebral palsy	biolink:Disease	mondo	HP:0100021|GARD:0010450|ICD10:G80.9|NCIT:C34460|DOID:1969|COHD:4134120|CSP:0723-4729|UMLS:C0007789|ICD10:G80|MESH:D002547|EFO:1000632|ICD9:343.8|SCTID:128188000|ICD9:343.9		infantile cerebral palsy	http://purl.obolibrary.org/obo/MONDO_0006497	A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain.	NCIT:C34460|SNOMEDCT:128188000|UMLS:C0007789|DOID:1969|MESH:D002547
MONDO:0006498	adenomatous colon polyp	biolink:Disease	mondo	SCTID:428054006|NCIT:C96479|EFO:1000633|HP:0005227		colonic adenomatous polyp|adenomatous polyp of the colon|colon adenomatous polyp|adenomatous polyp of colon	http://purl.obolibrary.org/obo/MONDO_0006498	A polypoid adenoma that arises from and protrudes into the lumen of the colon. Epithelial dysplasia is always present. According to the architectural pattern it is classified as tubular, tubulovillous, or villous.	SNOMEDCT:428054006|NCIT:C96479
MONDO:0006495	obsolete marginal zone B-cell lymphoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006495		
MONDO:0006496	palsy	biolink:Disease	mondo	Wikipedia:Palsy|MESH:D010243|EFO:1000631		Plegia|Plegias	http://purl.obolibrary.org/obo/MONDO_0006496	A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)	MESH:D010243
MONDO:0006493	Warthin tumor	biolink:Disease	mondo	UMLS:C0001429|SCTID:422470007|GARD:0008569|EFO:1000625|MESH:D000235|NCIT:C2854|ICDO:8561/0	gard_rare	papillary cystadenoma lymphomatosum (formerly)|Warthin tumor|papillary cystadenoma lymphomatosum|adenolymphoma|Warthin's tumor	http://purl.obolibrary.org/obo/MONDO_0006493	An adenoma characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. It occurs primarily in the parotid gland, and is the second most common benign parotid salivary gland tumor. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland.	SNOMEDCT:422470007|UMLS:C0001429|MESH:D000235|NCIT:C2854
MONDO:0006494	obsolete thyroid disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006494		
NCBITaxon:171	Leptospira	organism taxon	mondo	PMID:1581182|GC_ID:11|PMID:9103653|PMID:10425768|PMID:19868121			http://purl.obolibrary.org/obo/NCBITaxon_171		
MONDO:0006491	vulvar lichen sclerosus	biolink:Disease	mondo	UMLS:C0022783|EFO:1000623|MESH:D007724|NCIT:C27723		mammalian vulva lichen sclerosus et atrophicus|vulvar lichen sclerosus|lichen sclerosus et atrophicus of mammalian vulva	http://purl.obolibrary.org/obo/MONDO_0006491	A chronic inflammatory disorder of unknown etiology that affects the vulva. It is characterized by the development of white elevated plaques in the vulva. Histologically there is marked subepithelial fibrosis. Clinical manifestations include pruritus, dysuria, and dyspareunia.	MESH:D007724|NCIT:C27723|UMLS:C0022783
CHEBI:83970	cardiac glycoside	biolink:ChemicalSubstance	mondo			cardiac glycosides	http://purl.obolibrary.org/obo/CHEBI_83970	Steroid lactones containing sugar residues that act on the contractile force of the cardiac muscles.	
MONDO:0006492	obsolete vulvar squamous cell carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006492		
FOODON:03400289	USA agency food product type	biolink:OntologyClass	mondo	http://www.langual.org/langual_thesaurus.asp?termid=A0289			http://purl.obolibrary.org/obo/FOODON_03400289	Food group having common consumption, functional or manufacturing characteristics, e.g. *FRUIT OR VEGETABLE PRODUCT*, *DAIRY PRODUCT*, *CONFECTIONARY*, *PREPARED FOOD PRODUCT*, etc. [FDA CFSAN 1995]	
MONDO:0006490	vaginal squamous cell carcinoma	biolink:Disease	mondo	UMLS:C0238518|NCIT:C7736|EFO:1000620|ONCOTREE:VSC|SCTID:105121000119102		epidermoid carcinoma of the vagina|carcinoma of vagina squamous cell|vaginal squamous cell carcinoma|vaginal epidermoid carcinoma|vaginal squamous cell cancer, NOS|vagina epidermoid cell carcinoma|squamous cell carcinoma of vagina|vaginal squamous cell carcinoma, not otherwise specified|vagina epidermoid carcinoma|squamous cell carcinoma of the vagina|vagina squamous cell carcinoma|vaginal epidermoid cell carcinoma|vaginal squamous cell cancer|vaginal squamous cell carcinoma, NOS|epidermoid cell carcinoma of vagina|epidermoid cell carcinoma of the vagina|epidermoid carcinoma of vagina|squamous cell carcinoma of the vulva/vagina	http://purl.obolibrary.org/obo/MONDO_0006490	A squamous cell carcinoma arising from the vagina. Human papillomavirus infection is associated with the development of vaginal intraepithelial neoplasia and invasive squamous cell carcinoma. Signs and symptoms include painless bleeding, postcoital bleeding, and urinary tract symptoms. Morphologically it resembles squamous cell carcinomas in other anatomic sites. Radiation therapy is the preferred treatment for most cases. The prognosis is related to the stage of the disease.	NCIT:C7736|SNOMEDCT:105121000119102|UMLS:C0238518
NCBITaxon:170	Leptospiraceae	organism taxon	mondo	GC_ID:11|PMID:16014471		Treponemataceae	http://purl.obolibrary.org/obo/NCBITaxon_170		
MONDO:0018488	rare genetic odontal or periodontal disorder	biolink:Disease	mondo	UMLS:CN237489|Orphanet:420755	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0018488		UMLS:CN237489|ORPHA:420755
MONDO:0018487	autosomal recessive severe congenital neutropenia due to CXCR2 deficiency	biolink:Disease	mondo	ICD10:D70|Orphanet:420699	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018487		ORPHA:420699
MONDO:0018489	autoimmune encephalopathy with parasomnia and obstructive sleep apnea	biolink:Disease	mondo	UMLS:CN237490|SCTID:765751002|Orphanet:420789|ICD10:G04.8	ordo_disease	anti-IgLON5 disease|anti-IgLON5 syndrome	http://purl.obolibrary.org/obo/MONDO_0018489	Autoimmune encephalopathy with parasomnia and obstructive sleep apnea is a rare neurologic disorder characterized by a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (i.e. dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported.	UMLS:CN237490|ORPHA:420789|SNOMEDCT:765751002
MONDO:0018484	semicircular canal dehiscence syndrome	biolink:Disease	mondo	DOID:0080193|SCTID:717799003|ICD10:H83.8|Orphanet:420402|GARD:0010993	ordo_clinical_syndrome	third mobile window syndrome|Minorbs syndrome|superior semicircular canal dehiscence syndrome|SCD syndrome|superior canal syndrome|superior semicircular canal dehiscence|superior canal dehiscence|Minor's syndrome|canal dehiscence syndrome	http://purl.obolibrary.org/obo/MONDO_0018484	Semicircular canal dehiscence (SCD) syndrome is a rare otorhinolaryngologic disease characterized by the uni- or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. Posterior SCD syndrome is associated with high-riding jugular bulb and fibrous dysplasia, while lateral SCD syndrome is associated with chronic otitis media and cholesteatoma, with or without audiological and vestibular symptoms.	ORPHA:420402|DOID:0080193|SNOMEDCT:717799003
MONDO:0018483	secondary pulmonary alveolar proteinosis	biolink:Disease	mondo	SCTID:707510005|ICD10:J84.0|UMLS:C3873302|Orphanet:420259	ordo_disease	secondary PAP|SPAP	http://purl.obolibrary.org/obo/MONDO_0018483	A form of pulmonary alveolar proteinosis that arises in association with hematological disorders, medications, certain infections, acute silicosis, and immunodeficiency.	ORPHA:420259|SNOMEDCT:707510005|UMLS:C3873302
MONDO:0018486	visual snow syndrome	biolink:Disease	mondo	UMLS:CN237477|GARD:0012062|ICD10:H53.8|Orphanet:420556	gard_rare|ordo_disease	visual snow	http://purl.obolibrary.org/obo/MONDO_0018486	Visual snow syndrome is described as a persistent visual problem characterized by seeing snow-like dots. Migraines are a common symptom. Many people also see drifting blobs of varying size and shape (floaters), visual effects (entopic phenomenon), glare, halos, starbursts, trails, odd colors and shapes, and may have persistent recurrence of a visual image (palinopsia) and double vision. Additional symptoms may include fatigue, tinnitus, or depersonalization and depression. Most people have normal vision tests and normal brain images. Standard migraine treatments are often not helpful. There is no cure or effective treatment to completely relieve the symptoms, but medication seems to help some people with visual snow.	UMLS:CN237477|ORPHA:420556
MONDO:0018485	glycogen storage disease due to acid maltase deficiency, late-onset	biolink:Disease	mondo	ICD10:E74.0|UMLS:C3888925|SCTID:722343009|UMLS:C0342753|Orphanet:420429	ordo_clinical_subtype	Alpha-1,4-glucosidase acid deficiency, late onset|glycogen storage disease type 2, late-onset|GSD due to acid maltase deficiency, late-onset|glycogenosis type II, late-onset|GSD type 2, late-onset|glycogen storage disease type 2, late onset|GSD due to acid maltase deficiency, late onset|glycogenosis type II, late onset|GSD type 2, late onset|Pompe disease, late-onset|GSD type II, late-onset|glycogenosis type 2, late-onset|glycogen storage disease type II, late-onset|Pompe disease, late onset|GSD type II, late onset|glycogenosis type 2, late onset|Alpha-1,4-glucosidase acid deficiency, late-onset|glycogen storage disease type II, late onset	http://purl.obolibrary.org/obo/MONDO_0018485	Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes.	UMLS:C0342753|ORPHA:420429|SNOMEDCT:722343009|UMLS:C3888925
MONDO:0018471	generalized eruptive keratoacanthoma	biolink:Disease	mondo	UMLS:CN237455|ICD10:L85.8|UMLS:C0345985|SCTID:254664008|Orphanet:411777	ordo_disease	Grzybowski syndrome|generalized eruptive keratoacanthomas of Grzybowski|GEKA	http://purl.obolibrary.org/obo/MONDO_0018471	Generalized eruptive keratoacanthoma (GEKA) is rare variant of keratoacanthoma (KA) that affects the skin and mucous membranes and which is characterized by a sudden generalized eruption of severely pruritic, hundreds to thousands of small follicular papules, often with a central keratotic plug.	SNOMEDCT:254664008|UMLS:CN237455|ORPHA:411777|UMLS:C0345985
MONDO:0018470	renal agenesis (disease)	biolink:Disease	mondo	NCIT:C99041|HP:0000104|COHD:4003487|OMIMPS:191830|DOID:14766|HP:0008678|ICD10:Q60.1|Orphanet:411709|ICD10:Q60.0|SCTID:204942005|ICD10:Q60.2|GARD:0009228	ordo_morphological_anomaly	renal adysplasia|renal aplasia|renal hypodysplasia/aplasia|renal agenesis|hereditary urogenital adysplasia|renal agenesis/hypoplasia|hereditary renal aplasia|absent/underdeveloped kidney|absent/small kidney	http://purl.obolibrary.org/obo/MONDO_0018470	Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively), accompanied by absent ureter(s).	NCIT:C99041|DOID:14766|SNOMEDCT:204942005|ORPHA:411709
MONDO:0043455	humoral hypercalcemia of malignancy	biolink:Disease	mondo	MESH:C562390|NCIT:C3496|SCTID:47709007|UMLS:C0149911		hhm|malignancy associated hypercalcemia|humoral hypercalcemia of malignancy|hypercalcemia of malignancy|malignant hypercalcemia|mahc	http://purl.obolibrary.org/obo/MONDO_0043455	Hypercalcemia generally develops as a late complication of malignancy; its appearance has grave prognostic significance. It remains unclear, however, whether death is associated with hypercalcemic crisis (uncontrolled or recurrent progressive hypercalcemia) or with advanced disease. Symptoms include central nervous system impairment such as delirium with prominent symptoms of personality change, cognitive dysfunction, disorientation, incoherent speech, and psychotic symptoms such as hallucinations and delusions, smooth muscle hypotonicity, and altered cardiovascular function.	MESH:C562390|NCIT:C3496|UMLS:C0149911|SNOMEDCT:47709007
MONDO:0043452	chromosome 8, trisomy	biolink:Disease	mondo	SCTID:205649008|NCIT:C36396|MESH:C537942		chromosome 8 duplication|trisomy 8	http://purl.obolibrary.org/obo/MONDO_0043452	A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.	SNOMEDCT:205649008|NCIT:C36396|MESH:C537942
MONDO:0018477	bilirubin encephalopathy	biolink:Disease	mondo	GARD:0006830|ICD10:P57.9|Orphanet:415286|SCTID:50143004	ordo_clinical_syndrome	kernicterus spectrum disorder|hyperbilirubinemic encephalopathy|kernicterus	http://purl.obolibrary.org/obo/MONDO_0018477		ORPHA:415286|SNOMEDCT:50143004
MONDO:0018476	dystonia-aphonia syndrome	biolink:Disease	mondo	Orphanet:412217|UMLS:CN237465|ICD10:G24.8	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018476		UMLS:CN237465|ORPHA:412217
MONDO:0018479	congenital adrenal hyperplasia	biolink:Disease	mondo	DOID:0050811|SCTID:237751000|UMLS:C0701163|ICD10:E25|NCIT:C34360|Orphanet:418|ICD10:E25.9|UMLS:C0001627|MESH:D000312|ICD10:E25.0|MedDRA:10010323|GARD:0001467|ICD9:255.2	ordo_group_of_disorders	adrenogenital syndrome|congenital lipoid adrenal hyperplasia|adrenogenital disorder|adrenal hyperplasia, congenital|CAH|lipoid CAH|congenital adrenal gland hyperplasia|adrenal hyperplasia	http://purl.obolibrary.org/obo/MONDO_0018479	Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease.	MEDDRA:10010323|NCIT:C34360|UMLS:C0001627|MESH:D000312|ORPHA:418|DOID:0050811|SNOMEDCT:237751000|UMLS:C0701163
HGNC:21528	DIABLO	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21528		
MONDO:0018478	obsolete primary hyperoxaluria	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018478		
MONDO:0018473	hyperlipoproteinemia type 3	biolink:Disease	mondo	UMLS:C1862561|DOID:3145|OMIM:617347|MedDRA:10060751|Orphanet:412|UMLS:C0020479|ICD10:E78.2|GARD:0006703|SCTID:398796005	ordo_disease	dysbetalipoproteinemia|remnant disease|familial hypercholesterolemia with hyperlipemia|low density lipoprotein cholesterol level quantitative trait locus 5|hyperlipoproteinemia, type III|coronary artery disease, Severe, Susceptibility to|dyslipidemia type 3|familial type 3 hyperlipoproteinemia|dysbetalipoproteinemia due to defect in apolipoprotein E-D|Broad-betalipoproteinemia|familial hypercholesterolaemia with hyperlipaemia|carbohydrate induced hyperlipemia|apolipoprotein E, deficiency or defect of|floating-betalipoproteinemia|hyperlipidemia type 3|familial dysbetalipoproteinemia|hyperlipoproteinemia type III|hyperlipemia with Familial Hypercholesterolemic xanthomatosis|familial Hyperbeta- and Prebetalipoproteinemia|remnant removal disease|familial hyperlipoproteinemia type 3|Broad beta disease|HLP type 3|remnant hyperlipidemia	http://purl.obolibrary.org/obo/MONDO_0018473	Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease.	ORPHA:412|NCIT:C34710|DOID:3145|SNOMEDCT:398796005|http://identifiers.org/omim/617347|MESH:D006952|MEDDRA:10060751|UMLS:C0020479|UMLS:C1862561
GO:0031175	neuron projection development	biolink:OntologyClass	mondo			neurite development|neurite growth|neurite outgrowth|neurite formation|neurite biosynthesis	http://purl.obolibrary.org/obo/GO_0031175	The process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).	
MONDO:0018472	familial isolated trichomegaly	biolink:Disease	mondo	Orphanet:411788|DOID:0111566|SCTID:764523004	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018472	Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated.	ORPHA:411788|DOID:0111566|SNOMEDCT:764523004
MONDO:0018475	PRKAR1B-related neurodegenerative dementia with intermediate filaments	biolink:Disease	mondo	UMLS:CN237461|Orphanet:412066|ICD10:G31.8	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018475		UMLS:CN237461|ORPHA:412066
MONDO:0018474	13q12.3 microdeletion syndrome	biolink:Disease	mondo	ICD10:Q93.5|Orphanet:412035|UMLS:CN237459	ordo_malformation_syndrome	Del(13)(q12.3)|monosomy 13q12.3	http://purl.obolibrary.org/obo/MONDO_0018474	13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain.	UMLS:CN237459|ORPHA:412035
MONDO:0018460	Eales disease	biolink:Disease	mondo	SCTID:54122009|MedDRA:10057429|MESH:C538011|ICD10:H35.0|UMLS:C0271073|Orphanet:40923|GARD:0006309	gard_rare|ordo_disease	idiopathic retinal vasculitis|idiopathic retinal perivasculitis|idiopathic obliterative vasculopathy|idiopathic recurrent vitreal hemorrhage	http://purl.obolibrary.org/obo/MONDO_0018460	Eales disease (ED) is an idiopathic, inflammatory retinal venous occlusive disease characterized by 3 stages: vasculitis, occlusion and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss.	MEDDRA:10057429|SNOMEDCT:54122009|ORPHA:40923|UMLS:C0271073|MESH:C538011
MONDO:0006479	undifferentiated pancreatic carcinoma with osteoclast-like giant cells	biolink:Disease	mondo	UMLS:C2007059|DOID:7718|EFO:1000607|NCIT:C5723		osteoclast-like giant cell neoplasm of pancreas|undifferentiated pancreatic carcinoma with osteoclast-like giant cells|osteoclast-like giant cell neoplasm of the pancreas|pancreatic osteoclast-like giant cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006479	A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells.	DOID:7718|UMLS:C2007059|NCIT:C5723
MONDO:0006477	undifferentiated ovarian carcinoma	biolink:Disease	mondo	SCTID:254856004|UMLS:C0346167|EFO:1000605|NCIT:C4509		undifferentiated carcinoma of the ovary|ovary undifferentiated carcinoma|undifferentiated carcinoma of ovary|anaplastic carcinoma of the ovary|anaplastic carcinoma of ovary|ovarian undifferentiated carcinoma|anaplastic ovarian carcinoma|undifferentiated ovarian carcinoma|ovarian undifferentiated carcinoma|undifferentiated ovarian cancer	http://purl.obolibrary.org/obo/MONDO_0006477	An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor.	SNOMEDCT:254856004|NCIT:C4509|UMLS:C0346167
MONDO:0006478	undifferentiated pancreatic carcinoma	biolink:Disease	mondo	UMLS:C1336861|NCIT:C5722|EFO:1000606|ONCOTREE:UCP		spindle cell pancreatic carcinoma|undifferentiated carcinoma of pancreas|undifferentiated carcinoma of the pancreas|pancreas undifferentiated carcinoma|sarcomatoid pancreatic carcinoma|undifferentiated (anaplastic) pancreatic carcinoma|undifferentiated pancreatic carcinoma|pleomorphic large cell pancreatic carcinoma|pancreatic carcinosarcoma|UCP	http://purl.obolibrary.org/obo/MONDO_0006478	A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells.	UMLS:C1336861|NCIT:C5722
MONDO:0043465	achlorhydria	biolink:Disease	mondo	MESH:D000126|NCIT:C2850|SCTID:47481007		absent gastric acidity|hypochlorhydria|achylia gastrica|gastric anacidity|achlorhydria	http://purl.obolibrary.org/obo/MONDO_0043465	Absence of hydrochloric acid in the gastric juice.	NCIT:C2850|MESH:D000126|SNOMEDCT:47481007
MONDO:0043468	acne keloid	biolink:Disease	mondo	UMLS:C0001145|NCIT:C34346|SCTID:238746008|EFO:1001256|MESH:D000153		papillaris Capillitius, dermatitis|Keloidalis nuchae, lichen|folliculitis Keloidalis nuchae|dermatitis papillaris Capillitii|acne, keloidal|acne keloid|lichen Keloidalis nuchae|nuchae, lichen Keloidalis|folliculitis Keloidalis|keloidal Acnes|keloid Acnes, nuchal|keloid acne, nuchal|keloidal folliculitis|nuchal keloid Acnes|Capillitii, dermatitis papillaris|nuchae, folliculitis Keloidalis|nuchal keloid acne|Capillitius, dermatitis papillaris|keloids, acne|Keloidalis nuchae, folliculitis|keloidal acne|dermatitis papillaris Capillitius|keloid, acne|papillaris Capillitii, dermatitis|acne keloids|acne Keloidalis|acne, nuchal keloid|Acnes, nuchal keloid	http://purl.obolibrary.org/obo/MONDO_0043468	A chronic eruption of fibrous papules that develop and fuse to form a thick sclerotic, hypertrophic band at a site of deep folliculitis, usually along the posterior hairline of the scalp. It is most commonly seen in men of African descent.	UMLS:C0001145|MESH:D000153|NCIT:C34346|SNOMEDCT:238746008
MONDO:0006475	unclassified renal cell carcinoma	biolink:Disease	mondo	UMLS:C1336853|ONCOTREE:URCC|EFO:1000603|NCIT:C27892		URCC|unclassified renal cell cancer|unclassified renal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006475	A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology.	NCIT:C27892|UMLS:C1336853
MONDO:0006476	undifferentiated gallbladder carcinoma	biolink:Disease	mondo	UMLS:C0279653|EFO:1000604|NCIT:C9167		undifferentiated gallbladder carcinoma|gallbladder undifferentiated carcinoma|gall bladder undifferentiated carcinoma|gallbladder undifferentiated carcinoma|undifferentiated gallbladder cancer|undifferentiated carcinoma of the gallbladder|undifferentiated carcinoma of gallbladder|anaplastic carcinoma of the gallbladder|anaplastic carcinoma of gallbladder|anaplastic gallbladder carcinoma	http://purl.obolibrary.org/obo/MONDO_0006476	A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma.	NCIT:C9167|UMLS:C0279653
MONDO:0006473	obsolete tracheal squamous cell carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006473		
MONDO:0006474	transitional cell carcinoma	biolink:Disease	mondo	MESH:D002295|DOID:2671|UMLS:C0007138|NCIT:C2930|GARD:0007794|EFO:1000601|ICDO:8120/3	gard_rare	transitional cell neoplasm|transitional carcinoma|carcinoma of urothelial cell|carcinoma of transitional epithelial cell|urothelial cell carcinoma|transitional cell tumor|carcinoma, urothelial, malignant|transitional epithelial cell carcinoma|transitional cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006474	A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries.	NCIT:C2930|UMLS:C0007138|DOID:2671|MESH:D002295
MONDO:0006471	tracheal adenoid cystic carcinoma	biolink:Disease	mondo	DOID:4875|SCTID:254619006|UMLS:C0345945|NCIT:C6051|EFO:1000598		trachea adenoid cystic carcinoma|adenoid cystic carcinoma of the trachea|tracheal adenoid cystic carcinoma|adenoid cystic carcinoma of trachea	http://purl.obolibrary.org/obo/MONDO_0006471	An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes.	UMLS:C0345945|SNOMEDCT:254619006|NCIT:C6051|DOID:4875
MONDO:0006472	obsolete tracheal carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006472		
MONDO:0006470	tonsillar squamous cell carcinoma	biolink:Disease	mondo	NCIT:C8183|UMLS:C0280317|EFO:1000597		palatine tonsil squamous cell carcinoma|tonsil scc|squamous cell carcinoma of tonsil|squamous cell carcinoma of the tonsil|scc of tonsil|scc of the tonsil|tonsillar scc	http://purl.obolibrary.org/obo/MONDO_0006470	A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass.	NCIT:C8183|UMLS:C0280317
NCBITaxon:194	Campylobacter	organism taxon	mondo	PMID:12361288|PMID:1704793|PMID:19801389|PMID:16627635|PMID:29034857|PMID:11542086|GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_194		
MONDO:0043459	radiation-induced disorder	biolink:Disease	mondo	Orphanet:521132|MESH:D000016|SCTID:85983004|NCIT:C26684|UMLS:C1527225	ordo_group_of_disorders	radiation-induced Abnormality|Abnormality, radiation-induced|abnormalities, radiation induced|radiation induced abnormalities|radiation-induced abnormalities|radiation-induced disorder	http://purl.obolibrary.org/obo/MONDO_0043459	A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas.	NCIT:C26684|ORPHA:521132|UMLS:C1527225|MESH:D000016|SNOMEDCT:85983004
MONDO:0043458	radiation injury	biolink:Disease	mondo	MESH:D011832|UMLS:C0034535		syndromes, radiation|radiation injury|Sicknesses, radiation|sickness, radiation|Injuries, radiation|injury, radiation|radiation sickness|radiation syndromes|radiation Sicknesses|radiation syndrome|syndrome, radiation	http://purl.obolibrary.org/obo/MONDO_0043458	Harmful effects of non-experimental exposure to ionizing or non-ionizing radiation in VERTEBRATES.	UMLS:C0034535|MESH:D011832
MONDO:0018469	pulmonary non-tuberculous mycobacterial infection	biolink:Disease	mondo	Orphanet:411703|ICD10:A31.0|GARD:0012829|UMLS:CN237452	ordo_disease	nontuberculous mycobacterial lung disease|non-tuberculous mycobacterial lung disease	http://purl.obolibrary.org/obo/MONDO_0018469		ORPHA:411703|UMLS:CN237452
NCBITaxon:196	Campylobacter fetus	organism taxon	mondo	GC_ID:11|PMID:1354478|PMID:11321120		Spirillum fetus|Vibrio fetus	http://purl.obolibrary.org/obo/NCBITaxon_196		
MONDO:0018466	hereditary late onset Parkinson disease	biolink:Disease	mondo	Orphanet:411602|SCTID:716662004|DOID:0060892|ICD10:G20	ordo_disease	autosomal dominant late-onset Parkinson disease|late onset Parkinson disease|late onset Parkinson's disease|late-onset Parkinson disease|hereditary late-onset Parkinson disease|LOPD	http://purl.obolibrary.org/obo/MONDO_0018466	Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID).	ORPHA:411602|SNOMEDCT:716662004|DOID:0060892
MONDO:0018465	insulin autoimmune syndrome	biolink:Disease	mondo	SCTID:408539000|ICD10:E16.1|GARD:0010808|DOID:0040100|UMLS:C0854359|Orphanet:411593|ICD9:279.49	gard_rare|ordo_disease	insulin autoimmune hypoglycemia|Hirata disease	http://purl.obolibrary.org/obo/MONDO_0018465	Insulin autoimmune syndrome is a rare condition that causes low blood sugar (hypoglycemia). This occurs because the body begins to make a specific kind of protein called antibodies to attack insulin. Insulin is a naturally occurring hormone that is responsible for keeping blood sugar at a normal level. When blood sugar levels get too high, insulin helps to store the sugar for future use. People affected by insulin autoimmune syndrome have antibodies that attack insulin, causing it to work too hard and the level of blood sugar to become too low. Insulin autoimmune syndrome most often begins during adulthood.	ORPHA:411593|UMLS:C0854359|SNOMEDCT:408539000|DOID:0040100
MONDO:0018468	proton-pump inhibitor-responsive esophageal eosinophilia	biolink:Disease	mondo	ICD10:K20|Orphanet:411696	ordo_disease	PPI-REE|PPI-responsive esophageal eosinophilia|PPIRee	http://purl.obolibrary.org/obo/MONDO_0018468	Proton-pump inhibitor-responsive esophageal eosinophilia (PPI-REE) is a rare, gastroenterologic disease characterized by typical clinical, endoscopic and histological features of eosinophilic oesophagitis (i.e. symptomatic oesophageal dysfunction associated with eosinophil-predominant mucose infiltrate) which completely remits upon proton pump inhibitor therapy.	ORPHA:411696
MONDO:0018467	nephropathic infantile cystinosis	biolink:Disease	mondo	Orphanet:411629|MONDO:0009065|ICD10:N16.3*|ICD10:E72.0+	ordo_clinical_subtype	cystinosin, defect of|lysosomal cystine transport protein, defect of|CTNS|cystinosis, infantile nephropathic|cystinosis, atypical nephropathic	http://purl.obolibrary.org/obo/MONDO_0018467	Nephropathic infantile cystinosis is the most common and severe form of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.	ORPHA:411629
MONDO:0018462	Angelman syndrome due to imprinting defect in 15q11-q13	biolink:Disease	mondo	Orphanet:411515|ICD10:Q93.5|UMLS:CN237442	ordo_etiological_subtype		http://purl.obolibrary.org/obo/MONDO_0018462		ORPHA:411515|UMLS:CN237442
MONDO:0018461	Angelman syndrome due to a point mutation	biolink:Disease	mondo	Orphanet:411511|UMLS:CN237441|ICD10:Q93.5	ordo_etiological_subtype		http://purl.obolibrary.org/obo/MONDO_0018461		ORPHA:411511|UMLS:CN237441
MONDO:0018464	severe phosphoribosylpyrophosphate synthetase superactivity	biolink:Disease	mondo	UMLS:CN237444|Orphanet:411543|ICD10:E79.8	ordo_clinical_subtype	severe PRPP synthetase superactivity|severe PRPS1 superactivity	http://purl.obolibrary.org/obo/MONDO_0018464	Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies.	ORPHA:411543|UMLS:CN237444
MONDO:0018463	mild phosphoribosylpyrophosphate synthetase superactivity	biolink:Disease	mondo	ICD10:E79.8|Orphanet:411536|UMLS:CN237443	ordo_clinical_subtype	mild PRPP synthetase superactivity|mild PRPS1 superactivity	http://purl.obolibrary.org/obo/MONDO_0018463	Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders.	ORPHA:411536|UMLS:CN237443
UBERON:0015083	proximal tarsal bone pre-cartilage condensation	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015083	A proximal tarsal endochondral element that is composed primarily of a pre-cartilage condensation.	
UBERON:0015082	proximal tarsal cartilage	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015082	A proximal tarsal endochondral element that is composed primarily of cartilage tissue.	
MONDO:0006488	vaginal carcinosarcoma	biolink:Disease	mondo	NCIT:C40278|UMLS:C1519918|EFO:1000618|DOID:136		vaginal malignant mixed mesodermal (Mullerian) tumor|vaginal malignant mixed Mullerian tumor|vaginal carcinosarcoma|malignant vaginal mixed epithelial and mesenchymal tumor|vaginal malignant mixed mesodermal (Müllerian) tumor|vaginal mixed epithelial and mesenchymal tumor	http://purl.obolibrary.org/obo/MONDO_0006488	An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component.	DOID:136|UMLS:C1519918|NCIT:C40278
MONDO:0006489	vaginal melanoma	biolink:Disease	mondo	ONCOTREE:VMM|EFO:1000619|NCIT:C27394|UMLS:C2004576		vagina melanoma|melanoma (disease) of vagina|melanoma of vagina|melanoma of the vagina|vagina melanoma (disease)|mucosal melanoma of the vulva/vagina|vaginal melanoma	http://purl.obolibrary.org/obo/MONDO_0006489	A primary malignant neoplasm of the vagina composed of malignant melanocytes.	NCIT:C27394|UMLS:C2004576
GO:0045700	regulation of spermatid nuclear differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0045700	Any process that modulates the frequency, rate or extent of spermatid nuclear differentiation.	
MONDO:0006486	uveal melanoma	biolink:Disease	mondo	UMLS:C0220633|GARD:0008621|DOID:6039|ICD10:C69.3|MESH:C536494|EFO:1000616|NCIT:C7712|MedDRA:10061252|Orphanet:39044|ONCOTREE:UM	ordo_disease	choroidal melanoma|intraocular melanoma|melanoma of the uvea|uvea melanoma (disease)|melanoma (disease) of uvea|melanoma of uvea|melanoma, uveal, malignant|uveal melanoma|iris melanoma|uvea melanoma	http://purl.obolibrary.org/obo/MONDO_0006486	A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B.	ORPHA:39044|MESH:C536494|MEDDRA:10061252|NCIT:C7712|UMLS:C0220633|UMLS:C0346373|DOID:6039
MONDO:0043479	adenoviridae infectious disease	biolink:Disease	mondo	MESH:D000257|NCIT:C115149|SCTID:25225006|UMLS:C0001486		Adenoviridae disease or disorder|infection, Adenoviridae|infection, adenovirus|infections, Adenoviridae|infections, adenovirus|Adenoviridae infection|disease due to adenovirus|disease caused by adenovirus|Adenoviridae infectious disease|adenoviridae infectious disease|Adenoviridae caused disease or disorder|adenovirus infection|adenovirus infections	http://purl.obolibrary.org/obo/MONDO_0043479	An infectious process caused by adenovirus. The virus may cause respiratory illness, conjunctivitis, gastroenteritis, and cystitis.	SNOMEDCT:25225006|UMLS:C0001486|MESH:D000257|NCIT:C115149
MONDO:0006487	vaginal adenoid cystic carcinoma	biolink:Disease	mondo	EFO:1000617|NCIT:C40261|UMLS:C1519912		vaginal adenoid cystic carcinoma|vaginal adenoid cystic cancer	http://purl.obolibrary.org/obo/MONDO_0006487	An adenoid cystic carcinoma that arises from the vagina. Myoepithelial cells are usually not present.	UMLS:C1519912|NCIT:C40261
MONDO:0006484	usual ductal breast hyperplasia	biolink:Disease	mondo	ICD9:611.89|NCIT:C27941|SCTID:472905007|EFO:1000612|UMLS:C3532429		ductal breast hyperplasia of usual type|ordinary intraductal breast hyperplasia|UDH	http://purl.obolibrary.org/obo/MONDO_0006484	A neoplastic ductal proliferative lesion of the breast characterized by the formation of secondary lumens and prominent intraductal proliferation of a heterogeneous cellular population that may include epithelial cells, myoepithelial cells, or metaplastic apocrine cells.	NCIT:C27941|UMLS:C3532429|SNOMEDCT:472905007
MONDO:0043472	ectopic ACTH secretion syndrome	biolink:Disease	mondo	NCIT:C4387|SCTID:626004|MESH:D000182|UMLS:C0001231		ectopic ACTH syndrome|ectopic ACTH secretion causing Cushing's syndrome|ectopic ACTH syndromes|ACTH syndromes, ectopic|hypercortisolism due to nonpituitary tumor|ectopic ACTH secretion syndrome|ectopic ACTH secretion|syndromes, ectopic ACTH|syndrome, ectopic ACTH	http://purl.obolibrary.org/obo/MONDO_0043472	A syndrome characterized by abnormal secretion of adrenocorticotrophic hormone in conjunction with neoplastic growth occurring anywhere in the body. The most common associations are tumors of the bronchus (oat cell or carcinoid), thymic tumors (epithelial or carcinoid), and pancreatic endocrine tumor. (DeVita et al. Cancer, p 1364. 4th edition. Lippincott)	SNOMEDCT:626004|UMLS:C0001231|MESH:D000182|NCIT:C4387
MONDO:0006485	uterine carcinosarcoma	biolink:Disease	mondo	ONCOTREE:UCS|UMLS:C0280630|EFO:1000613|MESH:D012192|NCIT:C42700|DOID:6171|SCTID:702369008		mixed mullerian sarcoma of uterus|uterine carcinosarcoma/uterine malignant mixed mullerian tumor|uterine malignant mixed mesodermal (Mullerian) tumor|carcinosarcoma of the uterus|malignant mixed mesodermal (Müllerian) tumor of the uterus|uterine carcinosarcoma|uterine malignant mixed mesodermal (Müllerian) tumor|malignant mixed mesodermal (Mullerian) tumor of the uterus|uterus carcinosarcoma	http://purl.obolibrary.org/obo/MONDO_0006485	A usually aggressive malignant neoplasm arising from the uterine corpus and less often the cervix. It is characterized by the presence of two components: a malignant epithelial component and a sarcomatous component. In the uterine corpus the epithelial component is usually glandular whereas in the cervix is usually non-glandular. Carcinosarcoma of the cervix, although it is aggressive, it may have a better prognosis compared to the uterine corpus carcinosarcoma.	MESH:D012192|UMLS:C0280630|NCIT:C42700|DOID:6171|SNOMEDCT:702369008
MONDO:0043475	Adams-Stokes syndrome	biolink:Disease	mondo	UMLS:C0001396|NCIT:C79765|EFO:1001259|SCTID:46935006|MESH:D000219		syndrome, Adams-Stokes|syndrome, Stokes-Adams|Adam Stokes attacks|Stokes-Adams syndrome|Adam-Stokes attacks|Stokes Adams syndrome|attacks, Stokes-Adams|Stokes-Adams-morgagni syndrome|Stokes-Adams attacks|attacks, Adam-Stokes|Stokes Adams attacks|Adams Stokes syndrome	http://purl.obolibrary.org/obo/MONDO_0043475	An episode of sudden and transient loss of consciousness sometimes associated with seizures. It is caused by a sudden decrease of the cardiac output that results from a sudden cardiac dysrhythmia. Typically patients develop an initial pallor, followed by facial flush during recovery.	NCIT:C79765|UMLS:C0001396|MESH:D000219|SNOMEDCT:46935006
MONDO:0006482	ureter small cell carcinoma	biolink:Disease	mondo	DOID:6886|NCIT:C6176|UMLS:C1336878|EFO:1000610		small cell carcinoma of ureter|small cell carcinoma of the ureter|ureter small cell carcinoma|ureteral small cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006482	A rare carcinoma that arises from the ureter. It is characterized by the presence of small neuroendocrine cells. The prognosis is poor.	NCIT:C6176|UMLS:C1336878|DOID:6886
MONDO:0006483	urothelial dysplasia	biolink:Disease	mondo	NCIT:C39856|EFO:1000611|UMLS:C1275859		transitional cell dysplasia of the urinary tract|urothelial dysplasia	http://purl.obolibrary.org/obo/MONDO_0006483	A morphologic finding indicating the presence of dysplastic changes in the transitional cell epithelium of the urinary tract.	UMLS:C1275859|NCIT:C39856
MONDO:0006480	undifferentiated pleomorphic sarcoma, inflammatory variant	biolink:Disease	mondo	EFO:1000608|DOID:6192|UMLS:C1334180|NCIT:C6497		undifferentiated pleomorphic sarcoma, inflammatory variant|Xanthosarcoma|malignant xanthogranuloma|inflammatory malignant fibrous histiocytoma|inflammatory MFH	http://purl.obolibrary.org/obo/MONDO_0006480	An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells.	NCIT:C6497|UMLS:C1334180|DOID:6192
MONDO:0006481	ureter carcinoma	biolink:Disease	mondo	EFO:1000609|NCIT:C8993|DOID:4939|SCTID:448864006|UMLS:C0600079		carcinoma of ureter|carcinoma of the ureter|ureter carcinoma|ureteral carcinoma|ureter cancer	http://purl.obolibrary.org/obo/MONDO_0006481	A carcinoma that arises from epithelial cells of the ureter.	SNOMEDCT:448864006|DOID:4939|NCIT:C8993|UMLS:C0600079
MONDO:0018459	isolated glycerol kinase deficiency	biolink:Disease	mondo	Orphanet:408|GARD:0002807|ICD10:E74.8	ordo_disease	nonsyndromic inborn glycerol kinase deficiency|hyperglycerolemia|nonsyndromic glycerol kinase deficiency|isolated inborn glycerol kinase deficiency	http://purl.obolibrary.org/obo/MONDO_0018459	Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD ).	MESH:C538138|ORPHA:408|UMLS:C0574108
MONDO:0018458	familial hypocalciuric hypercalcemia	biolink:Disease	mondo	OMIMPS:145980|UMLS:C1809471|DOID:0060699|GARD:0010828|NCIT:C123262|ICD10:E83.5|UMLS:C0342637|SCTID:237885008|Orphanet:405	ordo_disease	FHH|hypocalciuric hypercalcemia|familial benign hypercalcemia|familial benign hypocalciuric hypercalcemia|FBHH|FBH	http://purl.obolibrary.org/obo/MONDO_0018458	Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration.	SNOMEDCT:237885008|ORPHA:405|UMLS:C1809471|UMLS:C0342637|DOID:0060699|NCIT:C123262
GO:0045701	negative regulation of spermatid nuclear differentiation	biolink:OntologyClass	mondo			down regulation of spermatid nuclear differentiation|downregulation of spermatid nuclear differentiation|inhibition of spermatid nuclear differentiation|down-regulation of spermatid nuclear differentiation	http://purl.obolibrary.org/obo/GO_0045701	Any process that stops, prevents, or reduces the frequency, rate or extent of spermatid nuclear differentiation.	
GO:0045702	positive regulation of spermatid nuclear differentiation	biolink:OntologyClass	mondo			up-regulation of spermatid nuclear differentiation|up regulation of spermatid nuclear differentiation|activation of spermatid nuclear differentiation|stimulation of spermatid nuclear differentiation|upregulation of spermatid nuclear differentiation	http://purl.obolibrary.org/obo/GO_0045702	Any process that activates or increases the frequency, rate or extent of spermatid nuclear differentiation.	
MONDO:0018455	dysostosis of genetic origin with limb anomaly as a major feature	biolink:Disease	mondo	Orphanet:404571	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018455		ORPHA:404571
HGNC:21504	PRY2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21504		
MONDO:0018454	dysostosis of genetic origin	biolink:Disease	mondo	Orphanet:404568	ordo_group_of_disorders	genetic dysostosis	http://purl.obolibrary.org/obo/MONDO_0018454	An instance of dysostosis that is caused by a modification of the individual's genome.	ORPHA:404568
MONDO:0018457	rare genetic bone development disorder	biolink:Disease	mondo	Orphanet:404584|UMLS:CN227376	obsoletion_candidate|ordo_group_of_disorders	rare genetic skeletal development disorder	http://purl.obolibrary.org/obo/MONDO_0018457		UMLS:CN227376|ORPHA:404584
UBERON:0015081	proximal tarsal endochondral element	biolink:AnatomicalEntity	mondo			proximal tarsal	http://purl.obolibrary.org/obo/UBERON_0015081	A proximal mesopodial endochondral element that is part of a hindlimb.	
MONDO:0018456	polyarticular juvenile idiopathic arthritis	biolink:Disease	mondo	SCTID:16044751000119106|Orphanet:404580|EFO:1002020	ordo_group_of_disorders	polyarticular JIA|juvenile polyarticular arthritis|juvenile polyarthritis	http://purl.obolibrary.org/obo/MONDO_0018456		SNOMEDCT:16044751000119106|ORPHA:404580
UBERON:0015080	proximal carpal bone pre-cartilage condensation	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015080	A proximal carpal endochondral element that is composed primarily of a pre-cartilage condensation.	
MONDO:0018451	X-linked distal hereditary motor neuropathy	biolink:Disease	mondo	Orphanet:404538|ICD10:G12.2	ordo_group_of_disorders	distal hereditary motor neuropathy, X-linked|X-linked dHMN|X-linked distal spinal muscular atrophy	http://purl.obolibrary.org/obo/MONDO_0018451	X-linked form of distal hereditary motor neuropathy.	ORPHA:404538
MONDO:0018450	spinal muscular atrophy with respiratory distress type 2	biolink:Disease	mondo	Orphanet:404521|UMLS:CN226195|ICD10:G12.2	ordo_disease	SMARD2|X-linked spinal muscular atrophy with respiratory distress|severe infantile axonal neuropathy with respiratory failure type 2|diaphragmatic spinal muscular atrophy type 2	http://purl.obolibrary.org/obo/MONDO_0018450	Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene.	ORPHA:404521|UMLS:CN226195
MONDO:0018453	familial atypical multiple mole melanoma syndrome	biolink:Disease	mondo	Orphanet:404560|NCIT:C27264|ICD10:D22.9	ordo_disease	FAMM-PC syndrome|familial atypical multiple mole melanoma-pancreatic carcinoma syndrome|familial atypical mole syndrome|B-K mole syndrome|familial Clark nevus syndrome|melanoma-pancreatic cancer syndrome|familial atypical mole melanoma syndrome|familial dysplastic nevus syndrome|FAMMM syndrome|FAMM syndrome	http://purl.obolibrary.org/obo/MONDO_0018453		NCIT:C27264|ORPHA:404560
MONDO:0018452	deficiency of the interleukin-36 receptor antagonist	biolink:Disease	mondo	ICD10:L40.1|Orphanet:404546|NCIT:C119057|UMLS:CN226196	ordo_disease	deficiency of the Interleukin-36 receptor antagonist|deficiency of IL-36Ra|DITRA|deficiency of IL-36R antagonist|familial generalized pustular psoriasis|PSORP	http://purl.obolibrary.org/obo/MONDO_0018452	An autoinflammatory disease caused by mutations in the IL36RN gene, which encodes the IL36 receptor antagonist. It is characterized by periodic fevers and psoriasiform rash.	UMLS:CN226196|ORPHA:404546|NCIT:C119057
HP:0040214	Abnormal insulin level	biolink:PhenotypicFeature	mondo	UMLS:C4073160			http://purl.obolibrary.org/obo/HP_0040214	An abnormal concentration of insulin in the body.	
HP:0040215	Abnormal circulating insulin level	biolink:PhenotypicFeature	mondo	UMLS:C4073161			http://purl.obolibrary.org/obo/HP_0040215	An abnormal concentration of insulin in the blood.	
NCBITaxon:452563	Cladosporiaceae	organism taxon	mondo	GC_ID:1|PMID:17486979		Davidiellaceae	http://purl.obolibrary.org/obo/NCBITaxon_452563		
GO:0045717	negative regulation of fatty acid biosynthetic process	biolink:OntologyClass	mondo			down regulation of fatty acid biosynthetic process|inhibition of fatty acid biosynthetic process|downregulation of fatty acid biosynthetic process|negative regulation of fatty acid anabolism|negative regulation of fatty acid synthesis|negative regulation of fatty acid biosynthesis|down-regulation of fatty acid biosynthetic process|negative regulation of fatty acid formation	http://purl.obolibrary.org/obo/GO_0045717	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of fatty acids.	
HP:0030895	Abnormal gastrointestinal motility	biolink:PhenotypicFeature	mondo			Abnormal GI motility	http://purl.obolibrary.org/obo/HP_0030895	An anomaly of the muscular contractions that propel food though the gastrointestinal tract.	
HP:0040211	Abnormal skin morphology of the palm	biolink:PhenotypicFeature	mondo	UMLS:C4073159			http://purl.obolibrary.org/obo/HP_0040211	An abnormality of the skin of the palm, that is, the skin of the front of the hand.	
GO:0045721	negative regulation of gluconeogenesis	biolink:OntologyClass	mondo			inhibition of gluconeogenesis|downregulation of gluconeogenesis|down-regulation of gluconeogenesis|down regulation of gluconeogenesis	http://purl.obolibrary.org/obo/GO_0045721	Any process that stops, prevents, or reduces the frequency, rate or extent of gluconeogenesis.	
GO:0045722	positive regulation of gluconeogenesis	biolink:OntologyClass	mondo			up-regulation of gluconeogenesis|up regulation of gluconeogenesis|activation of gluconeogenesis|stimulation of gluconeogenesis|upregulation of gluconeogenesis	http://purl.obolibrary.org/obo/GO_0045722	Any process that activates or increases the frequency, rate or extent of gluconeogenesis.	
GO:0045727	positive regulation of translation	biolink:OntologyClass	mondo			positive regulation of protein formation|upregulation of protein biosynthetic process|positive regulation of protein biosynthesis|positive regulation of protein biosynthetic process|stimulation of protein biosynthetic process|up regulation of protein biosynthetic process|positive regulation of protein anabolism|up-regulation of protein biosynthetic process|activation of protein biosynthetic process|positive regulation of protein synthesis	http://purl.obolibrary.org/obo/GO_0045727	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA.	
GO:0045723	positive regulation of fatty acid biosynthetic process	biolink:OntologyClass	mondo			up-regulation of fatty acid biosynthetic process|up regulation of fatty acid biosynthetic process|activation of fatty acid biosynthetic process|positive regulation of fatty acid biosynthesis|positive regulation of fatty acid anabolism|stimulation of fatty acid biosynthetic process|upregulation of fatty acid biosynthetic process|positive regulation of fatty acid synthesis|positive regulation of fatty acid formation	http://purl.obolibrary.org/obo/GO_0045723	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of fatty acids.	
GO:0045724	positive regulation of cilium assembly	biolink:OntologyClass	mondo			up-regulation of cilium assembly|positive regulation of flagellum biogenesis|positive regulation of flagellum assembly|up regulation of cilium assembly|activation of cilium assembly|stimulation of cilium assembly|upregulation of cilium assembly	http://purl.obolibrary.org/obo/GO_0045724	Any process that activates or increases the frequency, rate or extent of the formation of a cilium.	
GO:0031128	developmental induction	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0031128	A developmental process involving two tissues in which one tissue (the inducer) produces a signal that directs cell fate commitment of cells in the second tissue (the responder).	
FOODON:03400260	nut or nut product (us cfr)	biolink:OntologyClass	mondo	http://www.langual.org/langual_thesaurus.asp?termid=A0260			http://purl.obolibrary.org/obo/FOODON_03400260	Nuts in all forms, including nut butters and pastes.	
MONDO:0043424	digestive system infectious disease	biolink:Disease	mondo	SCTID:715852004|NCIT:C35503		infection of gastrointestinal tract|gastrointestinal system infection|gastrointestinal infection|digestive system infection	http://purl.obolibrary.org/obo/MONDO_0043424	A viral, bacterial, fungal, or parasitic infectious process that affects the digestive system.	SNOMEDCT:715852004|NCIT:C35503
GO:0006164	purine nucleotide biosynthetic process	biolink:OntologyClass	mondo			purine nucleotide anabolism|purine nucleotide synthesis|purine nucleotide biosynthesis|purine nucleotide formation	http://purl.obolibrary.org/obo/GO_0006164	The chemical reactions and pathways resulting in the formation of a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar.	
GO:0006165	nucleoside diphosphate phosphorylation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0006165	The process of introducing a phosphate group into a nucleoside diphosphate to produce a nucleoside triphosphate.	
GO:0006163	purine nucleotide metabolic process	biolink:OntologyClass	mondo			purine metabolism|purine metabolic process|purine nucleotide metabolism	http://purl.obolibrary.org/obo/GO_0006163	The chemical reactions and pathways involving a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar.	
GO:0045738	negative regulation of DNA repair	biolink:OntologyClass	mondo			down regulation of DNA repair|inhibition of DNA repair|down-regulation of DNA repair|downregulation of DNA repair	http://purl.obolibrary.org/obo/GO_0045738	Any process that stops, prevents, or reduces the frequency, rate or extent of DNA repair.	
FOODON:03400267	seafood or seafood product (us cfr)	biolink:OntologyClass	mondo	http://www.langual.org/langual_thesaurus.asp?termid=A0267			http://purl.obolibrary.org/obo/FOODON_03400267	Flesh from fish or shellfish. Includes seafood product analogs and seafood-based sausage or luncheon meat as well as such products as squid ink and clam juice.	
GO:0045739	positive regulation of DNA repair	biolink:OntologyClass	mondo			upregulation of DNA repair|up regulation of DNA repair|stimulation of DNA repair|activation of DNA repair|up-regulation of DNA repair	http://purl.obolibrary.org/obo/GO_0045739	Any process that activates or increases the frequency, rate or extent of DNA repair.	
MONDO:0018491	3-phosphoglycerate dehydrogenase deficiency	biolink:Disease	mondo	SCTID:303098002|Orphanet:422519|ICD9:270.7|UMLS:C0580190	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018491		SNOMEDCT:303098002|UMLS:C0580190|ORPHA:422519
MONDO:0018490	cono-spondylar dysplasia	biolink:Disease	mondo	UMLS:CN237491|SCTID:766874001|ICD10:Q77.7|Orphanet:420794	ordo_malformation_syndrome	short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0018490	Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies.	ORPHA:420794|SNOMEDCT:766874001|UMLS:CN237491
MONDO:0018493	malignant hyperthermia of anesthesia	biolink:Disease	mondo	DOID:8545|MedDRA:10020844|SCTID:405501007|UMLS:C0024591|HP:0002047|ICD10:T88.3|OMIMPS:145600|MESH:D008305|ICD9:995.86|NCIT:C84869|Orphanet:423	ordo_disease|clingen	malignant hyperpyrexia due to anesthesia|hyperthermia of anesthesia|malignant hyperpyrexia|malignant hyperthermia syndrome|anesthesia related hyperthermia|malignant hyperthermia	http://purl.obolibrary.org/obo/MONDO_0018493	Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat.	MEDDRA:10020844|NCIT:C84869|DOID:8545|MESH:D008305|ORPHA:423|SNOMEDCT:405501007|UMLS:C0024591
MONDO:0018492	hereditary clear cell renal cell carcinoma	biolink:Disease	mondo	NCIT:C36260|SCTID:764961009|UMLS:CN237493|Orphanet:422526|DOID:7192|ICD10:C64	ordo_disease	hereditary clear cell renal cell adenocarcinoma|hereditary conventional (clear cell) renal cell carcinoma|Hereditary clear cell renal cell cancer|hereditary clear cell renal carcinoma|hereditary clear cell renal cell carcinoma|hereditary conventional renal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0018492	A manifestation of von Hippel-Lindau disease or other familial renal cell cancer syndromes that present as a malignant epithelial neoplasm of the kidney. It is characterized by the presence of lipid-containing clear cells within a vascular network. The tumor usually is bilateral and polycentric, and metastasizes to unusual sites. Late metastasis is common.	DOID:7192|NCIT:C36260|SNOMEDCT:764961009|UMLS:CN237493|ORPHA:422526
MONDO:0018499	double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy	biolink:Disease	mondo	ICD10:Q24.8|Orphanet:423712	ordo_clinical_subtype	DORV with atrioventricular septal defect, pulmonary stenosis, heterotaxy	http://purl.obolibrary.org/obo/MONDO_0018499		ORPHA:423712
MONDO:0018498	double outlet right ventricle with subaortic or doubly committed ventricular septal defect	biolink:Disease	mondo	ICD10:Q20.1|Orphanet:423693	ordo_clinical_subtype	DORV with subaortic or doubly committed VSD	http://purl.obolibrary.org/obo/MONDO_0018498		ORPHA:423693
MONDO:0018495	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	biolink:Disease	mondo	ICD10:E79.8|UMLS:CN237501|Orphanet:423479	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018495	#945;-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination.	ORPHA:423479|UMLS:CN237501
MONDO:0018494	microcephaly-short stature-intellectual disability-facial dysmorphism syndrome	biolink:Disease	mondo	UMLS:CN237496|ICD10:Q87.1|Orphanet:423306	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0018494	Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism.	ORPHA:423306|UMLS:CN237496
MONDO:0018497	obsolete rare autonomic nervous system disorder	biolink:Disease	mondo	Orphanet:423662	ordo_group_of_disorders|obsoletion_candidate	rare autonomic nervous system disease	http://purl.obolibrary.org/obo/MONDO_0018497	Rare autonomic nervous system disease.	ORPHA:423662
MONDO:0018496	ARX-related encephalopathy-brain malformation spectrum	biolink:Disease	mondo	Orphanet:423655	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018496		ORPHA:423655
UBERON:0015152	gland of ocular region	biolink:AnatomicalEntity	mondo			orbital gland|ocular gland	http://purl.obolibrary.org/obo/UBERON_0015152	A gland that is typically found in or near the orbital region, in or around either the medial or lateral canthi, and is typically associated with secretions onto the eyeball or associated ducts. Includes the Harderian, nictitans and lacrimal glands.	
UBERON:0015155	conjunctival space	biolink:AnatomicalEntity	mondo			conjunctival sac cavity|subbrillar space|subconjunctival space|cavity of conjunctival sac	http://purl.obolibrary.org/obo/UBERON_0015155	A anatomical space that is enclosed by a conjunctiva.	
MONDO:0006538	obsolete dermatitis herpetiformis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006538		
MONDO:0006539	diffuse lipomatosis	biolink:Disease	mondo	UMLS:C1333298|DOID:3923|NCIT:C6504|EFO:1000687		diffuse lipomatosis	http://purl.obolibrary.org/obo/MONDO_0006539	A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue. It has been associated with several genetic disorders and different clinical conditions such as liver disease, excessive alcohol intake, adrenocortical steroid therapy, and antiretroviral therapy.	DOID:3923|NCIT:C6504|UMLS:C1333298
UBERON:0015154	lateral gland of orbital region	biolink:AnatomicalEntity	mondo			lateral ocular gland|lateral orbital gland	http://purl.obolibrary.org/obo/UBERON_0015154	A gland that is located in or around the ocular region, nearer the outer canthi.	
MONDO:0006536	congenital generalized lipodystrophy (disease)	biolink:Disease	mondo	DOID:0050585|EFO:1000681|SCTID:284449005|OMIMPS:608594|HP:0009059		lipodystrophy, congenital generalized|familial generalized lipodystrophy|Beradinelli-Seip syndrome|congenital generalized lipodystrophy|hereditary generalized lipodystrophy	http://purl.obolibrary.org/obo/MONDO_0006536	An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues.	DOID:0050585|SNOMEDCT:284449005
MONDO:0006537	conjunctival pigmentation	biolink:Disease	mondo	DOID:12304|SCTID:66081003|UMLS:C0155163|ICD9:372.55|EFO:1000682|ICD10:H11.13|COHD:381014			http://purl.obolibrary.org/obo/MONDO_0006537	Pigmented lesions that arise from the conjunctiva include nevus, complexion-associated melanosis (CAM), primary acquired melanosis (PAM), and malignant melanoma.1,2All of these lesions arise from melanocytes. However, a number of other lesions have a similar appearance but a different source, such as pigment deposits from silver and iron.	UMLS:C0155163|DOID:12304|SNOMEDCT:66081003
MONDO:0006534	cholinergic urticaria	biolink:Disease	mondo	UMLS:C0152230|COHD:138501|Wikipedia:Cholinergic_urticaria|EFO:1000679|ICD9:708.5|SCTID:73098005|ICD10:L50.5|DOID:14443			http://purl.obolibrary.org/obo/MONDO_0006534	A type of physical urticarias (or hives) that appears when a person is sweating.	DOID:14443|UMLS:C0152230|SNOMEDCT:73098005
UBERON:0015150	dorsal hair	biolink:AnatomicalEntity	mondo			back hair|dorsal coat hair|hair of back	http://purl.obolibrary.org/obo/UBERON_0015150	A strand of hair that is part of a dorsum.	
MONDO:0006535	obsolete cicatricial pemphigoid	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006535		
MONDO:0006532	cholesteatoma of external ear	biolink:Disease	mondo	COHD:378434|UMLS:C0155398|SCTID:35247001|ICD10:H60.4|ICD9:380.21|EFO:1000677|ICD10:H60.40|DOID:9462		cholesteatoma (disease) of external ear|external canal cholesteatoma|external ear cholesteatoma (disease)	http://purl.obolibrary.org/obo/MONDO_0006532	A cholesteatoma (disease) that involves the external ear.	UMLS:C0155398|SNOMEDCT:35247001|DOID:9462
MONDO:0006533	cholesteatoma of middle ear	biolink:Disease	mondo	ICD10:H71|SCTID:194339007|ICD9:385.33|DOID:10964|NCIT:C3654|ICD9:385.3|ICD9:385.32|EFO:1000678|MESH:D018424|UMLS:C0155490|COHD:381585		cholesteatoma of middle ear and/or mastoid|Epidermosis of middle ear|unspecified cholesteatoma (morphologic abnormality)|middle ear cholesteatoma|cholesteatoma (disease) of middle ear|cholesteatoma of the middle ear|Epidermosis of ear|cholesteatoma of middle ear|middle ear cholesteatoma (disease)|cholesteatoma|cholesteatoma of middle ear and mastoid	http://purl.obolibrary.org/obo/MONDO_0006533	A non-neoplastic lesion characterized by the proliferation of keratinizing squamous epithelium in the middle ear that results in the accumulation of keratin and cells. It is usually caused by repeated infections. If left untreated, it may increase in size and destroy the adjacent delicate bones of the middle ear.	MESH:D018424|UMLS:C0155490|NCIT:C3654|DOID:10964|SNOMEDCT:194339007
MONDO:0006530	cholesteatoma (disease)	biolink:Disease	mondo	SCTID:363668000|COHD:372925|DOID:869|UMLS:C0008373|ICD10:H71.9|ICD9:385.30|MESH:D002781|HP:0009797|EFO:1000675|NCIT:C2944|GARD:0010422|ICD10:H71.90		congenital cholesteatoma (type)|cholesteatoma|secondary acquired cholesteatoma (type)|primary acquired cholesteatoma (type)	http://purl.obolibrary.org/obo/MONDO_0006530	A pathologic process characterized by the proliferation of keratinizing squamous epithelium resulting in the accumulation of keratin and cells in the middle ear and/or mastoid. It may be congenital or acquired. If left untreated, it may increase in size and destroy adjacent structures.	SNOMEDCT:363668000|MESH:D002781|NCIT:C2944|UMLS:C0008373|DOID:869
HP:0030850	Abnormal pulse pressure	biolink:PhenotypicFeature	mondo	UMLS:C0855322			http://purl.obolibrary.org/obo/HP_0030850	An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure.	
MONDO:0006531	cholesteatoma of attic	biolink:Disease	mondo	ICD10:H71.00|ICD9:385.31|UMLS:C0155489|COHD:258441|DOID:10963|EFO:1000676|ICD10:H71.0|SCTID:38708003			http://purl.obolibrary.org/obo/MONDO_0006531	A cholesteatoma in the attic	SNOMEDCT:38708003|UMLS:C0155489|DOID:10963
HP:0003225	Reduced coagulation factor V activity	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:4320005|SNOMEDCT_US:88776002|MSH:D005166|UMLS:C0015499		Factor V deficiency|Reduced factor V activity	http://purl.obolibrary.org/obo/HP_0003225	Decreased activity of coagulation factor V.	
MONDO:0018529	qualitative or quantitative defects of Torsin-1A-interacting protein 1	biolink:Disease	mondo	Orphanet:424925	ordo_group_of_disorders	qualitative or quantitative defects of Torsin-1A-interacting protein type 1	http://purl.obolibrary.org/obo/MONDO_0018529		ORPHA:424925
MONDO:0018528	congenital myopathy with myasthenic-like onset	biolink:Disease	mondo	SCTID:763315005|Orphanet:424107|ICD10:G71.2	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018528	Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features.	SNOMEDCT:763315005|ORPHA:424107
MONDO:0018525	solid pseudopapillary carcinoma of pancreas	biolink:Disease	mondo	ICD10:C25.2|UMLS:C1336029|ICD10:C25.1|ICD10:C25.0|Orphanet:424065|DOID:6827|NCIT:C5728|ICD10:C25.8|ICD10:C25.7|ICDO:8452/3|EFO:1000542	ordo_disease	solid pseudopapillary carcinoma of pancreas|solid pseudopapillary carcinoma of the pancreas|solid pseudopapillary neoplasm of the pancreas|pancreatic solid pseudopapillary carcinoma	http://purl.obolibrary.org/obo/MONDO_0018525	A malignant neoplasm arising from the exocrine pancreas. It occurs predominantly in young women. It is characterized by the presence of extensive necrosis and hemorrhage and is composed of polyhedral cells forming solid and pseudopapillary patterns. There is morphologic evidence of perineural invasion, vascular invasion, or extensive invasion into the surrounding tissues.	UMLS:C1336029|NCIT:C5728|ORPHA:424065|DOID:6827
MONDO:0018524	obsolete intraductal papillary mucinous carcinoma of pancreas	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018524		
HP:0030852	High pulse pressure	biolink:PhenotypicFeature	mondo	UMLS:C0855323			http://purl.obolibrary.org/obo/HP_0030852	Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure).	
MONDO:0018527	osteoclastic giant cell tumor of pancreas	biolink:Disease	mondo	Orphanet:424080|UMLS:CN237530|ICD10:C25.2|ICD10:C25.1|ICD10:C25.0|ICD10:C25.8|ICD10:C25.7	ordo_disease	undifferentiated carcinoma of pancreas with osteoclast-like giant cells|OGCT of pancreas|pancreatic undifferentiated carcinoma with osteoclast-like giant cells|pancreatic osteoclastic giant cell tumor	http://purl.obolibrary.org/obo/MONDO_0018527		UMLS:CN237530|ORPHA:424080
MONDO:0018526	obsolete serous cystadenocarcinoma of pancreas	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018526		
MONDO:0018521	squamous cell carcinoma of pancreas	biolink:Disease	mondo	Orphanet:424039|ICD10:C25.8|ICD10:C25.7|UMLS:C2675993|DOID:0080323|ICD10:C25.2|UMLS:CN237524|ICD10:C25.1|ICD10:C25.0	ordo_disease	pancreatic squamous cell carcinoma|pancreas squamous cell carcinoma|squamous cell carcinoma of the pancreas	http://purl.obolibrary.org/obo/MONDO_0018521	A squamous cell carcinoma that involves the pancreas.	UMLS:C2675993|ORPHA:424039|DOID:0080323|UMLS:CN237524
MONDO:0018520	rare epithelial tumor of pancreas	biolink:Disease	mondo	Orphanet:424033|UMLS:CN237523	ordo_group_of_disorders|obsoletion_candidate	rare pancreatic epithelial tumor	http://purl.obolibrary.org/obo/MONDO_0018520		ORPHA:424033|UMLS:CN237523
MONDO:0018523	pancreatic mucinous cystadenoma	biolink:Disease	mondo	ICD10:C25.0|NCIT:C5718|DOID:7235|ICD10:C25.8|ICD10:C25.7|Orphanet:424053|ICD10:C25.2|DOID:7735|ICD10:C25.1	ordo_disease	colloid cystadenoma of pancreas|pancreatic mucinous cystadenoma|colloid cystadenoma of the pancreas|mucinous cystadenoma of the pancreas|mucinous cystadenocarcinoma of the pancreas|pancreatic colloidal cystadenoma|pancreatic mucinous cystic neoplasm|colloidal cystadenoma of pancreas|colloidal cystadenoma of the pancreas|pancreas mucinous cystadenoma|pancreatic mucinous cystadenocarcinoma|mucinous cystadenoma of pancreas|pancreatic colloid cystadenoma	http://purl.obolibrary.org/obo/MONDO_0018523	A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of columnar, mucin-producing epithelial cells. It occurs almost exclusively in women. Large tumors are often accompanied by a palpable abdominal mass.	NCIT:C5718|DOID:7235|ORPHA:424053|DOID:7735
MONDO:0018522	obsolete acinar cell carcinoma of pancreas	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018522		
HGNC:1582	CCND1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1582		
HGNC:1583	CCND2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1583		
UBERON:0015142	falciform fat	biolink:AnatomicalEntity	mondo			falciform fat depot|falciform ligament fat pad	http://purl.obolibrary.org/obo/UBERON_0015142	A large fat pad that is located at the base of the abdominal wall, in the falciform ligament of the liver.	
MONDO:0006549	fibroepithelial polyp of the anus	biolink:Disease	mondo	SCTID:195469007|DOID:8170|NCIT:C4435|EFO:1000699		anus skin tag|anal fibrous polyp|anal fibroepithelial polyp|fibrous polyp of anus|anal tag|fibrous polyp of the anus|skin tag of anus|fibroepithelial polyp of anus	http://purl.obolibrary.org/obo/MONDO_0006549	A non-neoplastic polypoid lesion that arises from the anal canal or perianal skin. It is composed of dense fibrous stroma and it is covered by squamous epithelium.	SNOMEDCT:195469007|DOID:8170|NCIT:C5604|NCIT:C4435
UBERON:0015144	autopod hair	biolink:AnatomicalEntity	mondo			hand/foot hair|hair of hand/foot|paw hair	http://purl.obolibrary.org/obo/UBERON_0015144	A strand of hair that is part of a autopod region.	
UBERON:0015143	mesenteric fat pad	biolink:AnatomicalEntity	mondo			mesenteric fat depot	http://purl.obolibrary.org/obo/UBERON_0015143	Encapsulated adipose tissue associated with the mesentery	
MONDO:0006547	exanthem (disease)	biolink:Disease	mondo	ICD10:R21|MESH:D005076|Wikipedia:Exanthem|ICD9:782.1|NCIT:C39594|DOID:0050486|EFO:1000697|SCTID:271807003|HP:0000988		skin Rash|cutaneous eruption|exanthem|exanthema|Rash|skin eruption	http://purl.obolibrary.org/obo/MONDO_0006547	Any change in the skin which affects its appearance or texture. A rash may be localized to one part of the body, or affect all the skin. Rashes may cause the skin to change color, itch, become warm, bumpy, dry, cracked or blistered, swell and may be painful.	MESH:D005076|NCIT:C39594|NCIT:C111884|DOID:0050486|SNOMEDCT:271807003
MONDO:0006548	facial dermatosis	biolink:Disease	mondo	DOID:3134|UMLS:C0015456|EFO:1000698|MESH:D005148			http://purl.obolibrary.org/obo/MONDO_0006548	Facial Dermatosis, also known as facial dermatoses, is related tolipogranulomatosis. An important gene associated with Facial Dermatosis isCCNE1(cyclin E1). The drugsbetamethasoneandbetamethasone acetatehave been mentioned in the context of this disorder.	DOID:3134|MESH:D005148|UMLS:C0015456
MONDO:0006545	erythema multiforme	biolink:Disease	mondo	SCTID:36715001|MESH:D004892|UMLS:C0014742|ICD9:695.1|ICD9:695.10|COHD:132702|GARD:0006372|NCIT:C3024|ICD10:L51|EFO:1000694|DOID:0050185	gard_rare	febrile mucocutaneous syndrome|Herpes iris, erythema multiforme type|Dermatostomatitis, erythema multiforme type|EM|erythema multiforme bullosum|erythema polymorphe, erythema multiforme type	http://purl.obolibrary.org/obo/MONDO_0006545	Erythema multiforme (EM) refers to a group ofhypersensitivity disorders characterized by symmetric red, patchy lesions, primarily on the arms and legs. The cause is unknown, but EM frequently occurs in association with herpes simplex virus, suggesting an immunologic process initiated by the virus. In half of the cases, the triggering agents appear to be medications, including anticonvulsants, sulfonamides, nonsteroidal anti-inflammatory drugs, and other antibiotics. In addition, some cases appear to be associated with infectious organisms such as Mycoplasma pneumoniae and many viral agents. Erythema multiforme is the mildest of three skin disorders that are often discussed in relation to each other. It is generally the mildest of the three. More severe is Stevens-Johnson syndrome. The most severe of the three is toxic epidermal necrolysis (TEN).	NCIT:C3024|MESH:D004892|SNOMEDCT:36715001|UMLS:C0014742|DOID:0050185
MONDO:0006546	erythematosquamous dermatosis	biolink:Disease	mondo	COHD:140172|DOID:9097|ICD9:690.8|NCIT:C34591|SCTID:54792008|UMLS:C0014747|EFO:1000695|ICD9:690		Other erythematosquamous dermatosis|erythematosquamous dermatosis	http://purl.obolibrary.org/obo/MONDO_0006546	A skin condition that primarily affects the scalp and face and presents as scaly inflammation. Examples include itchy, dry skin and dandruff.	DOID:9097|SNOMEDCT:54792008|UMLS:C0014747|NCIT:C34591
MONDO:0006543	epidermolysis bullosa dystrophica	biolink:Disease	mondo	DOID:4959|SCTID:254185007|ICD10:Q81.2|MESH:D016108|ICD9:757.39|NCIT:C84691|Wikipedia:Epidermolysis_bullosa_dystrophica|EFO:1000692		dystrophic epidermolysis bullosa	http://purl.obolibrary.org/obo/MONDO_0006543	A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes.	DOID:4959|MESH:D016108|NCIT:C84691|SNOMEDCT:254185007
MONDO:0006544	erythema infectiosum	biolink:Disease	mondo	ICD9:057.0|SCTID:34730008|UMLS:C0085273|NCIT:C84695|MESH:D016731|COHD:134569|DOID:8743|EFO:1000693|ICD10:B08.3		fifth disease	http://purl.obolibrary.org/obo/MONDO_0006544	A self-limited viral infectious disorder caused by the human parvovirus B19. It affects predominantly children and is characterized by the development of a bright red skin eruption in the cheeks. It is followed by a maculopapular skin eruption in the extremities which eventually fades into a lacey pattern.	NCIT:C84695|MESH:D016731|DOID:8743|SNOMEDCT:34730008|UMLS:C0085273
UBERON:0015149	ventral hair	biolink:AnatomicalEntity	mondo			ventral coat hair	http://purl.obolibrary.org/obo/UBERON_0015149	A strand of hair that is part of a ventrum.	
MONDO:0006541	epidermolysis bullosa	biolink:Disease	mondo	EFO:1000690|ICD10:Q81|MESH:D004820|SCTID:61003004|NCIT:C67383|Wikipedia:Epidermolysis_bullosa|DOID:2730|ICD9:757.39|COHD:4246290|ICD10:Q81.9|GARD:0006359	gard_rare	acantholysis bullosa|EB|epidermolysis bullosa	http://purl.obolibrary.org/obo/MONDO_0006541	Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool.	DOID:2730|SNOMEDCT:61003004|NCIT:C67383|MESH:D004820
MONDO:0006542	obsolete epidermolysis bullosa acquisita	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006542	A chronic autoimmune inflammatory disorder characterized by the formation of subepidermal blisters in the skin and the mucous membranes.	
UBERON:0015146	manus hair	biolink:AnatomicalEntity	mondo			hair of hand|front paw hair|hand hair	http://purl.obolibrary.org/obo/UBERON_0015146	A strand of hair that is part of a manus.	
MONDO:0006540	dyshidrosis	biolink:Disease	mondo	COHD:133551|ICD9:692.9|EFO:1000688|ICD9:705.81|UMLS:C0032633|Wikipedia:Dyshidrosis|DOID:9230|MESH:D011146|SCTID:402567004		pompholyx|vesicular eczema of hands and/or feet|dyshidrosis|DYSHYDROTIC eczema|cheiropompholyx	http://purl.obolibrary.org/obo/MONDO_0006540	A recurrent eczematous reaction characterized by the development of vesicular eruptions on the palms and soles, particularly along the sides and between the digits. It is accompanied by pruritus, a burning sensation, and hyperhidrosis. The disease is self-limiting, lasting only a few weeks. (Dorland, 27th ed)	DOID:9230|UMLS:C0032633|SNOMEDCT:402567004|MESH:D011146
UBERON:0015145	pes hair	biolink:AnatomicalEntity	mondo			hind foot hair|hind paw hair|hair of foot|foot hair	http://purl.obolibrary.org/obo/UBERON_0015145	A strand of hair that is part of a pes.	
UBERON:0015148	tail hair	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015148	A strand of hair that is part of a tail.	
UBERON:0015147	pinna hair	biolink:AnatomicalEntity	mondo			ear hair	http://purl.obolibrary.org/obo/UBERON_0015147	A strand of hair that is part of a pinna.	
MONDO:0018518	obsolete adenocarcinoma of the anal canal	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018518		
FOODON:00002454	food product by quality	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00002454	A class which contains food product categories qualified by a quality such as granularity or temperature, which is useful for tasks like food inspection where little prior knowledge of how the food came to be is available. Some terms like "food (frozen)" are both a quality descriptor and the output of a process.	
MONDO:0018517	obsolete obsolete carcinoma of the anal canal	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018517		
FOODON:00002451	food transformation process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00002451	A process involving the physical transformation of a food source or food product into some derived organic material or food product	
FOODON:00002452	invertebrate animal	biolink:OntologyClass	mondo			animal	http://purl.obolibrary.org/obo/FOODON_00002452	Invertebrates are animals that neither possess nor develop a vertebral column (commonly known as a backbone or spine), derived from the notochord. This includes all animals apart from the subphylum Vertebrata.	
MONDO:0018519	obsolete squamous cell carcinoma of the anal canal	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018519		
MONDO:0018514	obsolete rare epithelial tumor of rectum	biolink:Disease	mondo	UMLS:CN237519|Orphanet:423998	ordo_group_of_disorders|obsoletion_candidate	rare epithelial neoplasm of rectum|rare rectal epithelial tumor	http://purl.obolibrary.org/obo/MONDO_0018514	Any of the forms of epithelial neoplasm of rectum that have a rare incidence.	UMLS:CN237519|ORPHA:423998
MONDO:0018513	squamous cell carcinoma of colon	biolink:Disease	mondo	ICD10:C18.9|UMLS:C1333100|Orphanet:423994|ICD10:C18.8|SCTID:766981007|ICD10:C18.7|ICD10:C18.6|ICD10:C18.5|ICD10:C18.4|ICD10:C18.3|ICD10:C18.2|UMLS:CN237518|DOID:5519|NCIT:C5490|ICD10:C18.0	ordo_disease	colonic epidermoid carcinoma|colon squamous cell cancer|epidermoid carcinoma of the colon|epidermoid carcinoma of colon|squamous cell colon carcinoma|squamous cell carcinoma of colon|colonic squamous cell carcinoma|colon epidermoid carcinoma|squamous cell carcinoma of the colon|colon squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0018513	A squamous cell carcinoma that involves the colon.	UMLS:CN237518|ORPHA:423994|NCIT:C5490|SNOMEDCT:766981007|UMLS:C1333100|DOID:5519
MONDO:0018516	epithelial tumor of anal canal	biolink:Disease	mondo	UMLS:CN237521|Orphanet:424010	ordo_group_of_disorders	anal canal epithelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0018516	A epithelial neoplasm that involves the anal canal.	UMLS:CN237521|ORPHA:424010
MONDO:0018515	squamous cell carcinoma of rectum	biolink:Disease	mondo	UMLS:C1335690|ICD10:C20|SCTID:766979005|NCIT:C5554|Orphanet:424002|DOID:5528	ordo_disease	squamous carcinoma of rectum|rectal squamous cell carcinoma|squamous cell carcinoma of the rectum|squamous carcinoma of the rectum|rectum squamous cell carcinoma|squamous cell carcinoma of rectum|rectal squamous carcinoma|rectal squamous cell cancer	http://purl.obolibrary.org/obo/MONDO_0018515	A very rare rectal carcinoma characterized by the presence of a malignant squamous cell infiltrate.	DOID:5528|SNOMEDCT:766979005|NCIT:C5554|UMLS:C1335690|ORPHA:424002
MONDO:0018510	small intestine neuroendocrine neoplasm	biolink:Disease	mondo	DOID:4434|Orphanet:423975|NCIT:C5803|UMLS:C1336005|UMLS:CN237515	ordo_group_of_disorders	small intestine neuroendocrine neoplasm|neuroendocrine tumor of the small intestine|neuroendocrine tumor of small bowel|small intestinal neuroendocrine neoplasm|NET of the small intestine|small intestine neuroendocrine tumor|small intestine neuroendocrine tumor, well differentiated, low or intermediate grade|small intestine NET|neuroendocrine neoplasm of small intestine|small intestine neuroendocrine tumor|neuroendocrine neoplasm of the small intestine	http://purl.obolibrary.org/obo/MONDO_0018510	A neoplasm with neuroendocrine differentiation that arises from the small intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).	UMLS:CN237515|DOID:4434|ORPHA:423975|UMLS:C1336005|NCIT:C5803
MONDO:0018512	obsolete rare epithelial tumor of colon	biolink:Disease	mondo	UMLS:CN237517|Orphanet:423991	ordo_group_of_disorders|obsoletion_candidate	rare epithelial tumor of colon	http://purl.obolibrary.org/obo/MONDO_0018512	Any of the forms of epithelial tumor of colon that have a rare incidence.	UMLS:CN237517|ORPHA:423991
MONDO:0018511	epithelial tumor of the appendix	biolink:Disease	mondo	Orphanet:423982|UMLS:CN237516	ordo_group_of_disorders	appendiceal epithelial tumor|vermiform appendix epithelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0018511	A epithelial neoplasm that involves the vermiform appendix.	UMLS:CN237516|ORPHA:423982
HP:0003231	Hypertyrosinemia	biolink:PhenotypicFeature	mondo	UMLS:C1879362|SNOMEDCT_US:56595005		Increased tyrosine in blood|Tyrosinemia	http://purl.obolibrary.org/obo/HP_0003231	An increased concentration of tyrosine in the blood.	
MONDO:0006518	sporadic Creutzfeld Jacob disease	biolink:Disease	mondo	EFO:1000656			http://purl.obolibrary.org/obo/MONDO_0006518	Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common type of CJD, accounting for around 85% of cases. The precise cause of sporadic CJD is unclear, but it's been suggested that a normal brain protein changes abnormally ('misfolds') and turns into a prion. Most cases of sporadic CJD occur in adults aged between 45 and 75. On average, symptoms develop at age 60-65 years.	
MONDO:0006519	rectal cancer	biolink:Disease	mondo	NCIT:C7418|ICD10:C20|DOID:1993|SCTID:363351006|ICD9:154.1|EFO:1000657		malignant rectal tumor|malignant rectum neoplasm|malignant neoplasm of the rectum|carcinoma of rectum|cancer of rectum|malignant rectal neoplasm|malignant neoplasm of rectum|malignant tumor of rectum|carcinoma of the rectum|rectum cancer|malignant rectum tumor|malignant tumor of the rectum|rectal cancer	http://purl.obolibrary.org/obo/MONDO_0006519	A primary or metastatic malignant neoplasm that affects the rectum. Representative examples include carcinoma, lymphoma, and sarcoma.	SNOMEDCT:363351006|NCIT:C7418|DOID:1993
UBERON:0015130	connective tissue of prostate gland	biolink:AnatomicalEntity	mondo			connective tissue of prostate	http://purl.obolibrary.org/obo/UBERON_0015130	A portion of connective tissue that is part of a prostate gland.	
MONDO:0006516	sarcopenia	biolink:Disease	mondo	EFO:1000653|MedDRA:10063024|ICD10:M62.84|UMLS:C0872084|MESH:D055948			http://purl.obolibrary.org/obo/MONDO_0006516	Progressive decline in muscle mass due to aging which results in decreased functional capacity of muscles.	UMLS:C0872084|MESH:D055948
MONDO:0006517	childhood malignant neoplasm	biolink:Disease	mondo	EFO:1000654|NCIT:C4005|UMLS:C0278704		malignant pediatric tumor|malignant pediatric neoplasm|malignant neoplasm|childhood cancer|malignant childhood tumor|pediatric cancer|malignant childhood neoplasm|childhood malignant neoplasm|childhood neoplasm, malignant|malignant neoplasm	http://purl.obolibrary.org/obo/MONDO_0006517	A malignant tumor that occurs in children. Representative examples include soft tissue and bone sarcomas (e.g. osteosarcoma) and embryonal neoplasms (e.g. hepatoblastoma and rhabdoid tumor).	UMLS:C0278704|NCIT:C4005
MONDO:0006514	recalcitrant atopic dermatitis	biolink:Disease	mondo	EFO:1000651|PMID:25935106			http://purl.obolibrary.org/obo/MONDO_0006514	Moderate to severe atopic dermatitis with allergic sensitisation.	
MONDO:0006515	acute pancreatitis	biolink:Disease	mondo	EFO:1000652|UMLS:C0001339|ICD9:577.0|ICD10:K85|SCTID:7881005|NCIT:C95437|Wikipedia:Acute_pancreatitis|COHD:199074|HP:0001735|DOID:2913|ICD10:K85.9|MESH:D019283|UMLS:C0267941		acute necrotizing pancreatitis|pancreatitis necrotizing|acute pancreatitis NOS|pancreatitis, acute|acute pancreatitis (disorder) [ambiguous]	http://purl.obolibrary.org/obo/MONDO_0006515	An acute inflammatory process that leads to necrosis of the pancreatic parenchyma. Signs and symptoms include severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. Causes include alcohol consumption, presence of gallstones, trauma, and drugs.	UMLS:C0001339|UMLS:C0267941|SNOMEDCT:7881005|MESH:D019283|DOID:2913|NCIT:C95437
NCBITaxon:1113537	Chlamydia/Chlamydophila group	organism taxon	mondo	PMID:11211265|PMID:21048222|PMID:21048221|PMID:23620152|GC_ID:11|PMID:10319462			http://purl.obolibrary.org/obo/NCBITaxon_1113537		
MONDO:0006512	estrogen-receptor positive breast cancer	biolink:Disease	mondo	DOID:0060075|EFO:1000649		ER+ breast cancer|estrogen receptor positive breast cancer	http://purl.obolibrary.org/obo/MONDO_0006512	A subtype of breast cancer that is estrogen-receptor positive	DOID:0060075
MONDO:0006513	estrogen-receptor negative breast cancer	biolink:Disease	mondo	EFO:1000650|DOID:0060076		ER- breast cancer	http://purl.obolibrary.org/obo/MONDO_0006513	A subtype of breast cancer that is estrogen-receptor negative	DOID:0060076
MONDO:0006510	renal tubular transport disease	biolink:Disease	mondo	UMLS:C0035091|DOID:447|EFO:1000647|MESH:D015499		kidney tubular transport, inborn errors|disorder of renal absorption|kidney tubular transport, inborn error|disorder of renal absorption|renal tubular transport errors|inborn renal tubular transport disorder|renal tubular transport, inborn error|renal absorption disease	http://purl.obolibrary.org/obo/MONDO_0006510	Genetic defects in the selective or non-selective transport functions of the kidney tubules.	DOID:447|UMLS:C0035091|MESH:D015499
MONDO:0006511	obsolete developmental dysplasia of the hip	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006511		
MONDO:0018507	microcephaly-complex motor and sensory axonal neuropathy syndrome	biolink:Disease	mondo	UMLS:CN237512|Orphanet:423894|ICD10:G60.0	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018507	Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis.	UMLS:CN237512|ORPHA:423894
HP:0003202	Skeletal muscle atrophy	biolink:PhenotypicFeature	mondo	MSH:D009133|SNOMEDCT_US:74035001|UMLS:C0234958|UMLS:C0270948|UMLS:C1843479|UMLS:C0541794		Muscle atrophy, neurogenic|Muscle degeneration|Neurogenic muscle atrophy|Amyotrophy|Muscle atrophy|Neurogenic muscular atrophy|Muscular atrophy|Neurogenic muscle atrophy, especially in the lower limbs|Muscle wasting|Amyotrophy involving the extremities|Muscle hypotrophy	http://purl.obolibrary.org/obo/HP_0003202	The presence of skeletal muscular atrophy (which is also known as amyotrophy).	
MONDO:0018506	mesenchymal tumor of small intestine	biolink:Disease	mondo	UMLS:CN237511|Orphanet:423798	ordo_group_of_disorders	mesenchymal tumor of small bowel	http://purl.obolibrary.org/obo/MONDO_0018506		UMLS:CN237511|ORPHA:423798
MONDO:0018509	squamous cell carcinoma of the small intestine	biolink:Disease	mondo	Orphanet:423968|UMLS:CN237514|UMLS:C1710111|ICD10:C17.8|ICD10:C17.3|NCIT:C43534|ICD10:C17.2|ICD10:C17.1|ICD10:C17.0	ordo_disease	squamous cell carcinoma of the small bowel|small intestinal squamous cell cancer|small intestinal squamous cell carcinoma|small intestine squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0018509	A carcinoma that arises from the small intestine. It is composed of malignant squamous cells.	UMLS:C1710111|UMLS:CN237514|ORPHA:423968|NCIT:C43534
MONDO:0018508	obsolete rare carcinoma of small intestine	biolink:Disease	mondo	Orphanet:423957	ordo_group_of_disorders|obsoletion_candidate	rare small intestine carcinoma|rare carcinoma of small bowel	http://purl.obolibrary.org/obo/MONDO_0018508	Any of the forms of small intestine carcinoma that have a rare incidence.	ORPHA:423957
MONDO:0018503	carcinoma of stomach, salivary gland type	biolink:Disease	mondo	ICD10:C16.8|ICD10:C16.6|ICD10:C16.5|ICD10:C16.4|ICD10:C16.3|ICD10:C16.2|ICD10:C16.1|ICD10:C16.0|Orphanet:423781|UMLS:CN237508	ordo_disease	gastric carcinoma, salivary gland type	http://purl.obolibrary.org/obo/MONDO_0018503		UMLS:CN237508|ORPHA:423781
GO:0080090	regulation of primary metabolic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0080090	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism involving those compounds formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism.	
MONDO:0018502	hereditary gastric cancer	biolink:Disease	mondo	Orphanet:423776	ordo_group_of_disorders	hereditary gastric cancer|hereditary cancer of stomach	http://purl.obolibrary.org/obo/MONDO_0018502	Hereditary gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer, and includes hereditary diffuse gastric cancer (early onset diffuse-type gastric cancer), gastric adenocarcinoma and proximal polyposis of the stomach and familial intestinal gastric cancer (familial clustering of intestinal type gastric adenocarcinoma). Hereditary gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and juvenile polyposis syndrome.	ORPHA:423776
HP:0030875	Abnormality of pulmonary circulation	biolink:PhenotypicFeature	mondo	UMLS:C4280730		Abnormality of respiratory circulation|Abnormal pulmonary circulation	http://purl.obolibrary.org/obo/HP_0030875	A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart.	
MONDO:0018505	obsolete rare tumor of small intestine	biolink:Disease	mondo	Orphanet:423793|UMLS:CN237510	ordo_group_of_disorders|obsoletion_candidate	rare tumor of small bowel|rare small intestine neoplasm	http://purl.obolibrary.org/obo/MONDO_0018505	Any of the forms of small intestine neoplasm that have a rare incidence.	UMLS:CN237510|ORPHA:423793
MONDO:0018504	undifferentiated carcinoma of stomach	biolink:Disease	mondo	ICD10:C16.2|SCTID:766757006|NCIT:C5476|ICD10:C16.1|ONCOTREE:USTAD|ICD10:C16.0|UMLS:C1336858|Orphanet:423786|ICD10:C16.8|UMLS:CN237509|ICD10:C16.6|ICD10:C16.5|ICD10:C16.4|ICD10:C16.3	ordo_disease	undifferentiated carcinoma of the stomach|Gastric undifferentiated carcinoma|undifferentiated stomach adenocarcinoma|undifferentiated carcinoma of stomach|anaplastic carcinoma of the stomach|anaplastic carcinoma of stomach|undifferentiated gastric carcinoma|anaplastic gastric carcinoma|stomach undifferentiated carcinoma|undifferentiated gastric (stomach) cancer|Gastric undifferentiated carcinoma	http://purl.obolibrary.org/obo/MONDO_0018504	A carcinoma that arises from the stomach and is characterized by the absence of microscopic features of glandular or squamous differentiation.	UMLS:CN237509|ORPHA:423786|SNOMEDCT:766757006|NCIT:C5476|UMLS:C1336858
MONDO:0018501	obsolete rare carcinoma of stomach	biolink:Disease	mondo	Orphanet:423771	ordo_group_of_disorders|obsoletion_candidate	rare gastric carcinoma|rare stomach carcinoma	http://purl.obolibrary.org/obo/MONDO_0018501	Rare stomach carcinoma.	ORPHA:423771
MONDO:0018500	cutaneous larva migrans	biolink:Disease	mondo	ICD9:126.9|SCTID:19362000|GARD:0001629|MESH:D007815|Orphanet:423717|ICD10:B76.9	ordo_disease|gard_rare	creeping eruption|dew itch|ground itch|CLM	http://purl.obolibrary.org/obo/MONDO_0018500	Cutaneous larva migrans is a rare parasitic disease characterized by single or multiple, linear or serpinginous, erythematous, slightly elevated cutaneous tracks caused by the larval migration of various nematode species. Tracks are variable in length, generally a few millimeters wide and are frequently located on the feet (although any area of the body is possible). Patients typically present with severe, intractable pruritus, which, in some cases, may cause impaired concentration, loss of sleep, and mood disturbances.	ORPHA:423717|MESH:D007815|SNOMEDCT:19362000
NCBITaxon:33993	Neorickettsia	organism taxon	mondo	PMID:11760958|GC_ID:11|PMID:7537065			http://purl.obolibrary.org/obo/NCBITaxon_33993		
MONDO:0006509	papillary carcinoma	biolink:Disease	mondo	EFO:1000646|MESH:D002291|NCIT:C2927|DOID:3113|ICDO:8050/3|UMLS:C0007133		papillary carcinoma|papillary carcinoma NOS (morphologic abnormality)|papillary carcinoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0006509	A malignant epithelial neoplasm characterized by a papillary growth pattern. A papillary carcinoma may be composed of glandular cells (papillary adenocarcinoma), squamous cells (papillary squamous cell carcinoma), or transitional cells (papillary transitional cell carcinoma). Bladder carcinoma is a representative example of papillary transitional cell carcinoma.	MESH:D002291|NCIT:C2927|DOID:3113|UMLS:C0007133
MONDO:0006529	obsolete bullous skin disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006529		
MONDO:0006527	anhidrosis	biolink:Disease	mondo	SCTID:39659002|EFO:1000670|ICD9:705.0|DOID:11156|COHD:140490|ICD10:L74.4		adiaphoresis|absence of sweating	http://purl.obolibrary.org/obo/MONDO_0006527	Lack of sweating or the ability to sweat when provoked by the appropriate stimulus.	NCIT:C34385|SNOMEDCT:39659002|DOID:11156
MONDO:0006528	bacterial exanthem	biolink:Disease	mondo	DOID:0050487|EFO:1000671			http://purl.obolibrary.org/obo/MONDO_0006528	A bacteria-induced exanthem	DOID:0050487
HP:0040202	Abnormal consumption behavior	biolink:PhenotypicFeature	mondo	UMLS:C4073150		Abnormal consumption behaviour	http://purl.obolibrary.org/obo/HP_0040202		
MONDO:0006525	allergic contact dermatitis	biolink:Disease	mondo	ICD10:L23.9|ICD9:692.9|UMLS:C0162820|EFO:1000668|SCTID:238575004|DOID:3042|COHD:4031019|ICD10:L23|NCIT:C26998|MESH:D017449		allergic contact dermatitis|allergic form of contact dermatitis	http://purl.obolibrary.org/obo/MONDO_0006525	An inflammatory skin condition caused by an immune response to direct contact between the skin and an allergen. It consists of a delayed type of allergic reaction at the affected site with resulting red, swollen, and blistered skin that may itch or leak.	DOID:3042|UMLS:C0162820|MESH:D017449|NCIT:C26998|SNOMEDCT:238575004
MONDO:0006526	allergic urticaria	biolink:Disease	mondo	COHD:139902|Wikipedia:Urticaria#Allergic_urticaria|DOID:10612|SCTID:40178009|ICD9:708.0|EFO:1000669|UMLS:C0149526|ICD10:L50.0		allergic urticaria (disease)|allergic form of urticaria (disease)|allergic form of urticaria	http://purl.obolibrary.org/obo/MONDO_0006526	A urticaria with a basis in a pathological type I hypersensitivity reaction.	DOID:10612|UMLS:C0149526|SNOMEDCT:40178009
MONDO:0006523	acrodermatitis	biolink:Disease	mondo	MESH:D000169|ICD9:686.8|UMLS:C0001197|GARD:0005722|DOID:2722|CSP:4008-0032|EFO:1000664|SCTID:8197001|NCIT:C84532	gard_rare		http://purl.obolibrary.org/obo/MONDO_0006523	An inflammatory skin condition affecting children. It is often associated with Epstein-Barr virus infection, hepatitis B infection or cytomegalovirus infection. It is characterized by the presence of cutaneous rashes and patches on the palms and soles. The trunk is not affected.	DOID:2722|NCIT:C84532|UMLS:C0001197|SNOMEDCT:8197001|MESH:D000169
CHEBI:83925	non-proteinogenic alpha-amino acid	biolink:ChemicalSubstance	mondo			non-proteinogenic alpha-amino acids|non-proteinogenic alpha-amino-acid|non-proteinogenic alpha-amino-acids	http://purl.obolibrary.org/obo/CHEBI_83925	Any  alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.	
MONDO:0006524	acrodermatitis chronica atrophicans	biolink:Disease	mondo	DOID:0060344|SCTID:4340003|UMLS:C0263421|DERMO:0002165|EFO:1000665|ICD9:701.8|ICD10:L90.4		Herxheimer disease|primary diffuse atrophy	http://purl.obolibrary.org/obo/MONDO_0006524	An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis.	UMLS:C0263421|DOID:0060344|SNOMEDCT:4340003
MONDO:0043510	brain injury	biolink:Disease	mondo	MESH:D001930		brain trauma|injury of brain|brain injury|brain Traumas	http://purl.obolibrary.org/obo/MONDO_0043510	Acute and chronic (see also brain INJURIES, CHRONIC) injuries to the brain, including the cerebral hemispheres, CEREBELLUM, and brain STEM. Clinical manifestations depend on the nature of injury. Diffuse trauma to the brain is frequently associated with DIFFUSE AXONAL INJURY or COMA, POST-TRAUMATIC. Localized injuries may be associated with NEUROBEHAVIORAL MANIFESTATIONS; HEMIPARESIS, or other focal neurologic deficits.	MESH:D001930
MONDO:0006521	acneiform dermatitis	biolink:Disease	mondo	UMLS:C0234894|NCIT:C35277|DOID:4399|EFO:1000662		Rash acneiform	http://purl.obolibrary.org/obo/MONDO_0006521	Cutaneous eruptions resembling acne, characterized by the presence of papulonodules, pustules, comedones, or cysts in the face, trunk, and extremities. Causes include infections and the use of certain medications (e.g., antibiotics and steroids).	DOID:4399|UMLS:C0234894|NCIT:C35277
UBERON:0015128	subepicardial layer of epicardium	biolink:AnatomicalEntity	mondo			subepicardial connective tissue|perimysial connective tissue of subepicardium	http://purl.obolibrary.org/obo/UBERON_0015128		
MONDO:0006522	acquired keratosis	biolink:Disease	mondo	SCTID:400166009|NCIT:C34746|COHD:137951|DOID:13072|EFO:1000663|ICD9:701.1		acquired keratoderma NOS|acquired keratoderma|keratoderma - acquired|keratoderma, acquired|acquired hyperkeratosis|acquired keratosis	http://purl.obolibrary.org/obo/MONDO_0006522	Focal or diffuse thickening of the skin not inherited as a primary genetic disorder. Causes include inflammatory skin disorders, infectious disorders, lymphedema, and medications.	DOID:13072|NCIT:C34746|SNOMEDCT:400166009
MONDO:0043512	traumatic encephalopathy	biolink:Disease	mondo	SCTID:230282000|NCIT:C35542|EFO:1001277		post-traumatic dementia|dementia due to head trauma|post-traumatic brain syndrome|traumatic encephalopathy	http://purl.obolibrary.org/obo/MONDO_0043512	Encephalopathy resulting from trauma.	NCIT:C35542|SNOMEDCT:230282000
MONDO:0006520	Achenbach syndrome	biolink:Disease	mondo	NCIT:C35467|PMID:22915534|SCTID:238824006|DOID:6687|EFO:1000661		paroxysmal hematoma of the finger|Achenbach syndrome	http://purl.obolibrary.org/obo/MONDO_0006520	A rare disorder which affects the volar surfaces of fingers. Clinical signs include recurrent, spontaneous or post-traumatic bruising of fingers. The clinical course of the resultant hematoma usually follows a pattern of resolution within days.	SNOMEDCT:238824006|DOID:6687|NCIT:C35467
UBERON:0015129	epicardial fat	biolink:AnatomicalEntity	mondo			epicardial adipose tissue|pericardial adipose tissue	http://purl.obolibrary.org/obo/UBERON_0015129	Visceral intrapericardial fat contiguous with the myocardial surface.	
FOODON:00002471	prepared seafood product	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00002471		
FOODON:00002470	food object quality	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00002470		
NCBITaxon:33988	Rickettsieae	organism taxon	mondo	GC_ID:11|PMID:8240958|PMID:11760958			http://purl.obolibrary.org/obo/NCBITaxon_33988		
CHEBI:22978	cadmium molecular entity	biolink:ChemicalSubstance	mondo			cadmium molecular entities|cadmium compounds	http://purl.obolibrary.org/obo/CHEBI_22978		
CHEBI:22977	cadmium atom	biolink:ChemicalSubstance	mondo			cadmio|cadmium|48Cd|Kadmium|Cd|cadmium	http://purl.obolibrary.org/obo/CHEBI_22977		
MONDO:0006578	mediastinal lipomatosis	biolink:Disease	mondo	EFO:1000732|UMLS:C1334662|DOID:3926|NCIT:C27488		mediastinal lipomatosis	http://purl.obolibrary.org/obo/MONDO_0006578	A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the mediastinum.	UMLS:C1334662|DOID:3926|NCIT:C27488
MONDO:0006579	melanoacanthoma	biolink:Disease	mondo	EFO:1000733|Wikipedia:Melanocanthoma|DOID:11684|NCIT:C27548|UMLS:C1321683|SCTID:394727000			http://purl.obolibrary.org/obo/MONDO_0006579	A benign, darkly pigmented skin lesion characterized by proliferation of keratinocytes and melanocytes.	DOID:11684|SNOMEDCT:394727000|UMLS:C1321683|NCIT:C27548
MONDO:0006576	Ludwig's angina	biolink:Disease	mondo	UMLS:C3247204|SCTID:196542004|MESH:D008158|EFO:1000730|Wikipedia:Ludwig's_angina|UMLS:C0024081|ICD9:528.3|DOID:4558		cellulitis (disease) of mouth floor|mouth floor cellulitis (disease)|cellulitis of floor of mouth|Ludwig angina	http://purl.obolibrary.org/obo/MONDO_0006576	Severe cellulitis of the submaxillary space with secondary involvement of the sublingual and submental space. It usually results from infection in the lower molar area or from a penetrating injury to the mouth floor. (From Dorland, 27th ed)	MESH:D008158|SNOMEDCT:196542004|UMLS:C0024081|DOID:4558|UMLS:C3247204
NCBITaxon:136	Spirochaetales	organism taxon	mondo	PMID:11542017|PMID:23908650|PMID:11075904|GC_ID:11|PMID:16558735|PMID:1917844		spirochetes	http://purl.obolibrary.org/obo/NCBITaxon_136		
MONDO:0006577	maxillary sinus cholesteatoma	biolink:Disease	mondo	DOID:867|UMLS:C1334644|EFO:1000731|NCIT:C35868		maxillary sinus cholesteatoma (disease)|cholesteatoma (disease) of maxillary sinus	http://purl.obolibrary.org/obo/MONDO_0006577	A rare, progressive, non-neoplastic pathologic process that arises from the maxillary sinus mucosal epithelium. It is characterized by the proliferation of keratinizing squamous epithelium and the formation of keratin sheets. It may lead to bone erosion and infections. Surgical removal is the appropriate treatment.	UMLS:C1334644|NCIT:C35868|DOID:867
MONDO:0006574	lipomatosis	biolink:Disease	mondo	ICD9:272.8|SCTID:402693001|UMLS:C0023801|Wikipedia:Lipomatosis|DOID:3153|EFO:1000728|NCIT:C3193|MESH:D008068|ICD10:E88.2		Madelung disease|Launois-Bensaude syndrome|lipomatosis|Madelung's disease	http://purl.obolibrary.org/obo/MONDO_0006574	A neoplastic process characterized by diffuse overgrowth of mature adipose tissue.	NCIT:C3193|SNOMEDCT:402693001|MESH:D008068|DOID:3153|UMLS:C0023801
MONDO:0006575	obsolete loiasis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006575		
MONDO:0006572	lichen planus	biolink:Disease	mondo	COHD:132703|MESH:D008010|ICD9:697.0|ICD10:L43|NCIT:C3189|SCTID:4776004|EFO:1000726|UMLS:C0023646|ICD10:L43.9|DOID:9201		ruber planus|lichen, ruber planus|lichen ruber planus	http://purl.obolibrary.org/obo/MONDO_0006572	A chronic, recurrent, pruritic inflammatory disorder of unknown etiology that affects the skin and mucus membranes. It presents with rashes and papules that tend to resolve spontaneously. It may be associated with hepatitis C. Certain drugs that contain arsenic or bismuth are associated with reactions mimicking lichen planus.	NCIT:C3189|MESH:D008010|UMLS:C0023646|SNOMEDCT:4776004|DOID:9201
NCBITaxon:139	Borreliella burgdorferi	organism taxon	mondo	PMID:7981102|PMID:8995796|PMID:7699027|PMID:1380285|PMID:9336916|PMID:24744012|GC_ID:11|PMID:1503971		Borrelia burdorferi|Borrelia burgdorferi|Lyme disease spirochete	http://purl.obolibrary.org/obo/NCBITaxon_139		
MONDO:0006573	lipodystrophy (disease)	biolink:Disease	mondo	MESH:D008060|UMLS:C0023787|ICD10:E88.1|HP:0009125|Wikipedia:Lipodystrophy|NCIT:C97093|COHD:134324|DOID:811|SCTID:71325002|ICD9:272.6|EFO:1000727		lipodsystrophic syndrome|lipodsystrophic syndromes|lipodystrophy	http://purl.obolibrary.org/obo/MONDO_0006573	A congenital or acquired disorder characterized by abnormal loss or redistribution of the adipose tissue in the body.	MESH:D008060|DOID:811|SNOMEDCT:71325002|UMLS:C0023787|NCIT:C97093
MONDO:0006570	lichen disease	biolink:Disease	mondo	DOID:8574|UMLS:C0023643|SCTID:88996004|ICD9:697.8|ICD9:697|ICD9:697.9|EFO:1000724|ICD10:L28.0		lichen condition|lichen	http://purl.obolibrary.org/obo/MONDO_0006570	A long-term skin condition that mainly affects the skin of the genitals. It usually causes itching and white patches to appear on the affected skin.	UMLS:C0023643|SNOMEDCT:88996004|DOID:8574
NCBITaxon:137	Spirochaetaceae	organism taxon	mondo	PMID:23908650|GC_ID:11		Treponemataceae	http://purl.obolibrary.org/obo/NCBITaxon_137		
NCBITaxon:138	Borrelia	organism taxon	mondo	PMID:30154058|PMID:30586413|PMID:28141502|PMID:24744012|PMID:8863409|PMID:27930271|PMID:31836459|PMID:31722850|GC_ID:11|PMID:31454394|PMID:8863416			http://purl.obolibrary.org/obo/NCBITaxon_138		
MONDO:0006571	lichen nitidus	biolink:Disease	mondo	ICD9:697.1|DOID:8573|Wikipedia:Lichen_nitidus|ICD10:L44.1|SCTID:41890004|MESH:D017513|UMLS:C0162849|EFO:1000725|COHD:132704		Pinkus' disease	http://purl.obolibrary.org/obo/MONDO_0006571	A chronic inflammatory disease characterized by shiny, flat-topped, usually flesh-colored micropapules no larger than the head of a pin. Lesions are localized in the early stages, found chiefly on the lower abdomen, penis, and inner surface of the thighs. Distribution may become generalized as the disease progresses.	DOID:8573|SNOMEDCT:41890004|UMLS:C0162849|MESH:D017513
MONDO:0018569	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	biolink:Disease	mondo	ICD10:Q87.8|UMLS:CN237580|Orphanet:435938	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0018569	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding.	UMLS:CN237580|ORPHA:435938
MONDO:0018568	COG2-CDG	biolink:Disease	mondo	UMLS:C4479353|Orphanet:435934|ICD10:E77.8	ordo_disease	COG2-related congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0018568		UMLS:C4479353|ORPHA:435934
HP:0030810	Abnormal tongue physiology	biolink:PhenotypicFeature	mondo	UMLS:C4280754			http://purl.obolibrary.org/obo/HP_0030810	Any functional anomaly of the tongue.	
MONDO:0018565	congenital urachal anomaly	biolink:Disease	mondo	Orphanet:435743	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018565	Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum.	ORPHA:435743
MONDO:0018564	3p25.3 microdeletion syndrome	biolink:Disease	mondo	Orphanet:435638|ICD10:Q93.5|UMLS:CN237571	ordo_malformation_syndrome	monosomy 3p25.3|Del(3)p(25.3)|intellectual disability-epilepsy-stereotypic hand movement syndrome	http://purl.obolibrary.org/obo/MONDO_0018564	3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.	UMLS:CN237571|ORPHA:435638
MONDO:0018567	autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation	biolink:Disease	mondo	Orphanet:435819|ICD10:G60.0|UMLS:CN237576	ordo_disease	CMT2 due to TFG mutation	http://purl.obolibrary.org/obo/MONDO_0018567		UMLS:CN237576|ORPHA:435819
MONDO:0018566	short stature-advanced bone age-early-onset osteoarthritis syndrome	biolink:Disease	mondo	ICD10:M89.8|Orphanet:435804|UMLS:CN237575	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018566		UMLS:CN237575|ORPHA:435804
MONDO:0018561	precocious puberty in female	biolink:Disease	mondo	HP:0010465|UMLS:C0271616|Orphanet:435561	ordo_group_of_disorders	precocious puberty of female organism|female organism precocious puberty	http://purl.obolibrary.org/obo/MONDO_0018561	A precocious puberty that involves the female organism.	UMLS:C0271616|ORPHA:435561
MONDO:0018560	anterior urethral valve	biolink:Disease	mondo	Orphanet:435372|ICD10:Q64.7|UMLS:CN242188|SCTID:253907008	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0018560		UMLS:CN242188|SNOMEDCT:253907008|ORPHA:435372
MONDO:0018563	adactyly of foot	biolink:Disease	mondo	Orphanet:435623|SCTID:66345008|ICD10:Q72.8	ordo_morphological_anomaly	congenital absence of toes	http://purl.obolibrary.org/obo/MONDO_0018563		SNOMEDCT:66345008|ORPHA:435623
MONDO:0018562	genetic otorhinolaryngological malformation	biolink:Disease	mondo	Orphanet:435603	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018562		ORPHA:435603
NCBITaxon:151341	Polyomaviridae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_151341		
UBERON:0015181	neck of tooth	biolink:AnatomicalEntity	mondo			dental neck|cervix dentis|cervix of tooth|cervical zone of tooth|cervical margin of tooth|collumn dentis|tooth neck	http://purl.obolibrary.org/obo/UBERON_0015181	The slightly constricted part of a tooth, between the crown and the root.	
MONDO:0006589	occupational dermatitis	biolink:Disease	mondo	EFO:1000744|NCIT:C34859|MESH:D009783|DOID:4404|SCTID:402587003|UMLS:C0028796|ICD9:692.9		occupational allergic contact dermatitis|occupational eczema|occupational eczema (disorder) [ambiguous]|occupational dermatitis	http://purl.obolibrary.org/obo/MONDO_0006589	Contact dermatitis associated with allergens or irritants found in the workplace.	SNOMEDCT:402587003|UMLS:C0028796|MESH:D009783|NCIT:C34859|DOID:4404
NCBITaxon:151340	Papillomaviridae	organism taxon	mondo	GC_ID:1|PMID:20206957		Papillomavirus	http://purl.obolibrary.org/obo/NCBITaxon_151340		
MONDO:0006587	obsolete nodular nonsuppurative panniculitis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006587		
MONDO:0006588	nonepidermolytic palmoplantar keratoderma	biolink:Disease	mondo	SCTID:716105001|ICD10:Q82.8|EFO:1000743|DOID:0050428|Orphanet:2337	ordo_inheritance_inconsistent|ordo_disease	NEPPK|autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type|diffuse nonepidermolytic palmomplantar keratoderma|tylosis|Unna-Thost syndrome|Thost-Unna syndrome|non-epidermolytic palmoplantar keratoderma|diffuse palmoplantar keratoderma, Bothnian type	http://purl.obolibrary.org/obo/MONDO_0006588	Non-epidermolytic palmoplantar keratoderma is characterised by a diffuse non-epidermolytic palmoplantar keratoderma with frequent fungal infections. Prevalence in the general population is estimated at 1 in 40,000 but is much higher in northern Sweden (0.3-0.55%). Transmission is autosomal dominant and the causative gene has been localised to chromosome 12q11-q13.	ORPHA:2337|DOID:0050428|SNOMEDCT:716105001
MONDO:0006585	neurodermatitis	biolink:Disease	mondo	UMLS:C0149922|NCIT:C111963|MESH:D009450|EFO:1000740|UMLS:C0027822|DOID:3309|SCTID:267854005		lichen simplex Chronicus	http://purl.obolibrary.org/obo/MONDO_0006585	Skin findings arising from repeated rubbing, picking or scratching of a real or imagined irritation of the skin.	UMLS:C0149922|NCIT:C111963|UMLS:C0027822|MESH:D009450|SNOMEDCT:267854005|DOID:3309
MONDO:0006586	neurotic excoriation	biolink:Disease	mondo	ICD9:698.4|Wikipedia:Neurotic_excoriations|ICD10:L98.1|EFO:1000741|DOID:9165|UMLS:C1274184|ICD9:300.19|SCTID:402736003		factitious skin disease|dermatitis ficta|dermatitis factitia|dermatitis artefacta|dermatitis factitia [artefacta]	http://purl.obolibrary.org/obo/MONDO_0006586	A condition in which patients produce skin lesions through repetitive, compulsive excoriation of their skin.	SNOMEDCT:402736003|DOID:9165|UMLS:C1274184
MONDO:0006583	necrobiosis lipoidica	biolink:Disease	mondo	SCTID:9418005|UMLS:C0027538|MESH:D009335|ICD10:L92.1|DOID:3486|Wikipedia:Necrobiosis_lipoidica|EFO:1000738|Orphanet:542592|NCIT:C34840|GARD:0013040	gard_rare|ordo_disease	necrobiosis lipoidica|necrobiosis lipoidica diabeticorum (formerly)	http://purl.obolibrary.org/obo/MONDO_0006583	Necrobiosis lipoidica is a rare skin disorder of collagen degeneration. It is characterized by a rash that occurs on the lower legs. It is more common in women, and there are usually several spots. They are slightly raised shiny red-brown patches. The centers are often yellowish and may develop open sores that are slow to heal. Infections can occur but are uncommon. Some patients have itching, pain, or abnormal sensations. It usually occurs more often in people with diabetes, in people with a family history of diabetes or a tendency to get diabetes, but can occur in nondiabetic people. About 11% to 65% of patients with necrobiosis lipoidica also have diabetes, but the exact cause is still not known. Treatment is difficult. The disease is typically chronic with variable progression and scarring.	UMLS:C0027538|MESH:D009335|NCIT:C34840|DOID:3486|ORPHA:542592|SNOMEDCT:9418005
MONDO:0006584	neonatal jaundice	biolink:Disease	mondo	UMLS:C0022353|SCTID:387712008|ICD10:P59.9|MESH:D007567|COHD:435656|ICD9:774.6|DOID:2383|EFO:1000739|ICD9:774.5		neonatal hyperbilirubinemia|neonatal icterus	http://purl.obolibrary.org/obo/MONDO_0006584	Jaundice that appears during the neonatal period. In the majority of cases, it appears in the first week of life and is classified as physiologic due to accelerated destruction of erythrocytes and liver immaturity. In a minority of cases it is classified as non-physiologic, appearing in the first twenty four hours after birth, and is associated with underlying diseases including hemolytic disorders, polycythemia, and cephalohematoma.	SNOMEDCT:387712008|NCIT:C99246|MESH:D007567|DOID:2383|UMLS:C0022353
MONDO:0006581	miliaria rubra	biolink:Disease	mondo	UMLS:C0162423|ICD10:L74.2|DOID:11153|ICD10:L74.0|SCTID:44279002|ICD9:705.1|UMLS:C3241961|EFO:1000735		miliaria crystallina|sudamina|prickly heat - miliaria	http://purl.obolibrary.org/obo/MONDO_0006581	Miliaria rubraor prickly heat occurs deeper in the epidermis (outside layer of skin) and results in very itchy red papules (bumps).	UMLS:C0162423|UMLS:C3241961|SNOMEDCT:44279002|DOID:11153
MONDO:0006582	mongolian spot	biolink:Disease	mondo	UMLS:C0265985|NCIT:C3945|DOID:4702|MESH:D049328|SCTID:40467008|Wikipedia:Mongolian_spot|EFO:1000736		Mongolian macula|congenital dermal melanocytosis|blue sacral spot	http://purl.obolibrary.org/obo/MONDO_0006582	A benign, flat, congenital birthmark, with wavy borders and an irregular shape. The colour is caused by melanocytes, melanin-containing cells, that are usually located in the surface of the skin (the epidermis), but are in the deeper region (the dermis) in the location of the spot.	NCIT:C3945|MESH:D049328|UMLS:C0265985|DOID:4702|SNOMEDCT:40467008
MONDO:0006580	miliaria	biolink:Disease	mondo	SCTID:63951004|ICD10:L74.3|MESH:D008883|UMLS:C0026113|Wikipedia:Miliaria|EFO:1000734|DOID:1382|NCIT:C34820		prickly heat|heat rash	http://purl.obolibrary.org/obo/MONDO_0006580	A small (one mm or less) vesicular, papular or pustular monomorphous rash, which is associated with heat, fever or occlusion of sweat glands.	SNOMEDCT:63951004|UMLS:C0026113|NCIT:C34820|MESH:D008883|DOID:1382
HP:0030824	Mizuo phenomenon	biolink:PhenotypicFeature	mondo	UMLS:C4280748		Mizuo-Nakamura phenomenon	http://purl.obolibrary.org/obo/HP_0030824	Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14].	
MONDO:0018558	syndrome with woolly hair	biolink:Disease	mondo	Orphanet:434809	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018558		ORPHA:434809
GO:0031090	organelle membrane	biolink:OntologyClass	mondo			intracellular membrane	http://purl.obolibrary.org/obo/GO_0031090	A membrane that is one of the two lipid bilayers of an organelle envelope or the outermost membrane of single membrane bound organelle.	
MONDO:0018557	obsolete rare genetic autonomic nervous system disorder	biolink:Disease	mondo	UMLS:CN237558|Orphanet:434786	obsoletion_candidate|ordo_group_of_disorders	rare genetic autonomic nervous system disease	http://purl.obolibrary.org/obo/MONDO_0018557	Rare genetic autonomic nervous system disease.	UMLS:CN237558|ORPHA:434786
GO:0031091	platelet alpha granule	biolink:OntologyClass	mondo			platelet alpha-granule	http://purl.obolibrary.org/obo/GO_0031091	A secretory organelle found in blood platelets, which is unique in that it exhibits further compartmentalization and acquires its protein content via two distinct mechanisms: (1) biosynthesis predominantly at the megakaryocyte (MK) level (with some vestigial platelet synthesis) (e.g. platelet factor 4) and (2) endocytosis and pinocytosis at both the MK and circulating platelet levels (e.g. fibrinogen (Fg) and IgG).	
MONDO:0018559	fetal lower urinary tract obstruction	biolink:Disease	mondo	Orphanet:435365|UMLS:C4305545|SCTID:717752005	ordo_group_of_disorders	LUTO	http://purl.obolibrary.org/obo/MONDO_0018559		SNOMEDCT:717752005|UMLS:C4305545|ORPHA:435365
HP:0003272	Abnormality of the hip bone	biolink:PhenotypicFeature	mondo	UMLS:C4021735		Abnormality of the hip bone|Abnormality of the hips	http://purl.obolibrary.org/obo/HP_0003272	An abnormality of the hip bone.	
MONDO:0018554	pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis	biolink:Disease	mondo	EFO:0009199|UMLS:CN237555|Orphanet:431353	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018554	Pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis (PVOD and/or PCH) constitutes a rare subgroup of pulmonary arterial hypertension (PAH) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction.	ORPHA:431353|UMLS:CN237555
MONDO:0018553	urachal diverticulum	biolink:Disease	mondo	SCTID:253899000|ICD10:Q64.4|NCIT:C123254|Orphanet:431347|UMLS:CN237554	ordo_morphological_anomaly	Vesicourachal diverticulum	http://purl.obolibrary.org/obo/MONDO_0018553	Urachal diverticulum is the rarest type of congenital urachal anomaly resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications.	ORPHA:431347|NCIT:C123254|SNOMEDCT:253899000|UMLS:CN237554
HP:0003271	Visceromegaly	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:28543008|UMLS:C0042782			http://purl.obolibrary.org/obo/HP_0003271	Abnormal increased size of the viscera of the abdomen.	
MONDO:0018556	Lambert-Eaton myasthenic syndrome	biolink:Disease	mondo	GARD:0006851|NCIT:C3155|Orphanet:43393|ICD10:G73.1|MedDRA:10067685|ICD10:G70.80|SCTID:56989000|DOID:0050214|UMLS:C0022972|ICD9:358.3|MESH:D015624	gard_rare|ordo_disease	myasthenic-myopathic syndrome of Lambert-Eaton|myasthenic syndrome of Lambert-Eaton|Lambert Eaton myasthenic syndrome|Eaton-Lambert syndrome|Lambert-Eaton syndrome|Lambert Eaton syndrome|Eaton Lambert syndrome|LEMS	http://purl.obolibrary.org/obo/MONDO_0018556	Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC).	UMLS:C0022972|NCIT:C3155|SNOMEDCT:56989000|MEDDRA:10067685|MESH:D015624|DOID:0050214|ORPHA:43393
MONDO:0018555	hypogonadotropic hypogonadism	biolink:Disease	mondo	DOID:0090070|HP:0000044|Orphanet:432|NCIT:C113347|ICD9:253.4|ICD10:E23.0|UMLS:CN235466|OMIMPS:147950|SCTID:33927004|DOID:7455	ordo_disease	normosmic congenital hypogonadotropic hypogonadism|Normosmic idiopathic hypogonadotropic hypogonadism|isolated congenital gonadotropin deficiency|congenital idiopathic hypogonadotropic hypogonadism|hypogonadotropic hypogonadism|hypogonadotropic hypogonadism with or without anosmia|isolated hypogonadotropic hypogonadism|hypogonadotropism|low gonadotropins (secondary hypogonadism)|nIHH|hypogonadism, hypogonadotropic|secondary hypogonadism|gonadotropic deficiency|central hypogonadism	http://purl.obolibrary.org/obo/MONDO_0018555	Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis.	DOID:7455|ORPHA:432|DOID:0090070|SNOMEDCT:33927004|UMLS:CN235466|NCIT:C113347
MONDO:0018550	spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder	biolink:Disease	mondo	Orphanet:431320|UMLS:CN237550	ordo_group_of_disorders	SPOAN and SPOAN-related disorder	http://purl.obolibrary.org/obo/MONDO_0018550		ORPHA:431320|UMLS:CN237550
HP:0030828	Wheezing	biolink:PhenotypicFeature	mondo	MSH:D012135|UMLS:C0043144|SNOMEDCT_US:56018004		Wheezing	http://purl.obolibrary.org/obo/HP_0030828	A high-pitched whistling sound associated with labored breathing.	
MONDO:0018552	urachal sinus	biolink:Disease	mondo	Orphanet:431344|UMLS:CN237553|ICD10:Q64.4|SCTID:451030007	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0018552	Urachal sinus is a type of congenital urachal anomaly resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected.	ORPHA:431344|UMLS:CN237553|SNOMEDCT:451030007
HP:0030829	Abnormal breath sound	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:301273002|UMLS:C0231856			http://purl.obolibrary.org/obo/HP_0030829	An anomalous (adventitious) sound produced by the breathing process.	
MONDO:0018551	patent urachus (disease)	biolink:Disease	mondo	NCIT:C99005|SCTID:398316009|ICD10:Q64.4|HP:0010479|UMLS:CN237552|Orphanet:431341	ordo_morphological_anomaly	patent urachus	http://purl.obolibrary.org/obo/MONDO_0018551	Patent urachus is a type of congenital urachal anomaly characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus.	ORPHA:431341|NCIT:C99005|UMLS:CN237552|SNOMEDCT:398316009
MONDO:0006558	pemphigoid gestationis	biolink:Disease	mondo	NCIT:C85003|UMLS:C0019343|Orphanet:63275|Wikipedia:Gestational_pemphigoid|DOID:0040098|GARD:0006497|MedDRA:10019939|ICD10:L12.8|ICD10CM:O26.4|DOID:14482|ICD10:O26.4|ICD9:646.80|ICD10:O26.40|MESH:D006559|SCTID:86081009|EFO:1000709	ordo_disease|gard_rare	gestational pemphigoid|gestational herpes|Herpes gestationis (disorder)|Herpes gestationis NOS (disorder)|pemphigus gestationis|Herpes gestationis|pemphigoid gestationis|Herpes gestationis unspecified (disorder)	http://purl.obolibrary.org/obo/MONDO_0006558	A rare pregnancy-associated autoimmune skin disease that is characterised by an itchy rash that develops into blisters. It is most common during the second and third trimesters of pregnancy. It was previously known as herpes gestationis although it has no association with the herpes virus whatsoever.	UMLS:C0019343|NCIT:C85003|MESH:D006559|ORPHA:63275|DOID:0040098|SNOMEDCT:86081009|MEDDRA:10019939|DOID:14482
MONDO:0006559	hidradenitis suppurativa	biolink:Disease	mondo	Wikipedia:Hidradenitis_suppurativa|UMLS:C0162836|SCTID:59393003|MESH:D017497|EFO:1000710|DOID:2280|ICD10:L73.2|COHD:4241223|GARD:0006658		hidradenitis suppurativa|acne inversa|acne inversa, familial	http://purl.obolibrary.org/obo/MONDO_0006559	A chronic suppurative and cicatricial disease of the apocrine glands occurring chiefly in the axillae in women and in the groin and anal regions in men. It is characterized by poral occlusion with secondary bacterial infection, evolving into abscesses which eventually rupture. As the disease becomes chronic, ulcers appear, sinus tracts enlarge, fistulas develop, and fibrosis and scarring become evident.	DOID:2280|MESH:D017497|SNOMEDCT:59393003|UMLS:C0162836
MONDO:0006556	hand dermatosis	biolink:Disease	mondo	EFO:1000706|MESH:D006229|UMLS:C0018567|DOID:3158			http://purl.obolibrary.org/obo/MONDO_0006556	Skin conditions characterised by dense infiltration of inflammatory cells (neutrophils) in the affected tissue. They arise in reaction to some underlying systemic illness. A neutrophilic dermatosis may be seen in isolation or more than one type may occur in the same individual.	MESH:D006229|UMLS:C0018567|DOID:3158
MONDO:0006557	hemangioma of subcutaneous tissue	biolink:Disease	mondo	EFO:1000707|SCTID:93473009|UMLS:C0685200|DOID:13081|NCIT:C8540		subcutaneous hemangioma|subcutaneous angioma|subcutaneous haemangioma|subcutaneous tissue hemangioma|superficial fascia hemangioma|hemangioma of the subcutaneous tissue|subcutaneous tissue angioma|hemangioma of superficial fascia|angioma of subcutaneous tissue|hemangioma of subcutaneous tissue|angioma of the subcutaneous tissue	http://purl.obolibrary.org/obo/MONDO_0006557	A hemangioma arising from the subcutaneous soft tissues.	SNOMEDCT:93473009|NCIT:C8540|DOID:13081|UMLS:C0685200
UBERON:0015172	endometrial blood vessel	biolink:AnatomicalEntity	mondo			blood vessel of endometrium	http://purl.obolibrary.org/obo/UBERON_0015172	A blood vessel that is part of a endometrium.	
MONDO:0006554	granuloma annulare	biolink:Disease	mondo	Wikipedia:Granuloma_annulare|ICD9:709.8|EFO:1000704|ICD10:L92.0|SCTID:65508009|NCIT:C3470|DOID:3777|MESH:D016460|UMLS:C0085074|GARD:0006546	gard_rare	granuloma annulare|Granulome annulare	http://purl.obolibrary.org/obo/MONDO_0006554	Granuloma annulare is a long-term (chronic) skin disease consisting of a rash with reddish bumps arranged in a circle or ring. The most commonly affected areas are the forearms, hands and feet. The lesions associated with granuloma annulare usually resolve without treatment. Strong steroids (applied as a cream or injection) are sometimes used to clear the rash more quickly. Most symptoms will disappear within 2 years (even without treatment), but recurrence is common. The underlying cause of granuloma annulare is unknown.	MESH:D016460|NCIT:C3470|UMLS:C0085074|SNOMEDCT:65508009|DOID:3777
NCBITaxon:157	Treponema	organism taxon	mondo	PMID:9734025|PMID:9019153|GC_ID:11|PMID:23961314		Microspironema|"Spironema" Vuillemin 1905	http://purl.obolibrary.org/obo/NCBITaxon_157		
MONDO:0006555	granulomatous dermatitis	biolink:Disease	mondo	DOID:4397|EFO:1000705|NCIT:C3505|UMLS:C0743086			http://purl.obolibrary.org/obo/MONDO_0006555	An inflammatory reaction of the skin to various organic and inorganic antigens. It is characterized by tumor-like masses or nodules of granulomatous tissue comprised of activated histiocytes, epitheliod cells, and multinucleated giant cells.	UMLS:C0743086|NCIT:C3505|DOID:4397
MONDO:0006552	folliculitis	biolink:Disease	mondo	EFO:1000702|Wikipedia:Folliculitis|ICD9:704.8|DOID:4409|SCTID:13600006|NCIT:C94408|MESH:D005499		hair follicle dermatitis|dermatitis of hair follicle	http://purl.obolibrary.org/obo/MONDO_0006552	Inflammation of the hair follicles. Causes include excessive perspiration, skin infections, and skin wounds.	MESH:D005499|SNOMEDCT:13600006|NCIT:C94408|DOID:4409
MONDO:0006553	Fox-Fordyce disease	biolink:Disease	mondo	EFO:1000703|DOID:1381|SCTID:65038009|ICD10:L75.2|GARD:0006462|UMLS:C0016632|NCIT:C84716|MESH:D005588|Wikipedia:Fox-Fordyce_disease|ICD9:705.82	gard_rare	miliaria, apocrine|apocrine miliaria|Fox-Fordyce disease|Fox-Fordyce syndrome|Fox Fordyce disease	http://purl.obolibrary.org/obo/MONDO_0006553	Fox-Fordyce disease isa chronic skin diseasemost common in women aged 13-35 years.It is characterized by the development of intense itching in the underarm area, the pubic area, and around the nipple of the breast as a result of perspiration which becomes trapped in the sweat gland and surrounding areas. The cause is unknown,but heat, humidity, and stress may play a role. Treatment may include the use of retinoids, antibiotics, and immunosuppressants.	DOID:1381|MESH:D005588|NCIT:C84716|UMLS:C0016632|SNOMEDCT:65038009
MONDO:0006550	fibroepithelial polyp of urethra	biolink:Disease	mondo	UMLS:C1336884|EFO:1000700|NCIT:C6170|DOID:8108		fibroepithelial polyp of urethra|skin tag of urethra|urethra skin tag|urethral fibroepithelial polyp|fibroepithelial polyp of the urethra|urethra fibroepithelial polyp	http://purl.obolibrary.org/obo/MONDO_0006550	A benign polypoid lesion of mesodermal origin that arises from the urethra.	DOID:8108|UMLS:C1336884|NCIT:C6170
CHEBI:34905	paraquat	biolink:ChemicalSubstance	mondo			1,1'-Dimethyl-4,4'-bipyridinium|methyl viologen ion(2+)|1,1'-dimethyl-[4,4'-bipyridin]-1,1'-diium|paraquat dication|paraquat ion|1,1'-dimethyl-4,4'-bipyridyldiylium|N,N'-dimethyl-4,4'-bipyridinium|dimethyl viologen|Paraquat|N,N'-dimethyl-4,4'-bipyridinium dication	http://purl.obolibrary.org/obo/CHEBI_34905	An organic cation that consists of 4,4'-bipyridine bearing two N-methyl substituents loctated at the 1- and 1'-positions.	
UBERON:0015179	somite boundary epithelium	biolink:AnatomicalEntity	mondo			intersomitic epithelium|intersomitic membrane	http://purl.obolibrary.org/obo/UBERON_0015179	Epithelium located in the intersomitic region.	
MONDO:0006551	alopecia mucinosa	biolink:Disease	mondo	EFO:1000701|MESH:D000507|PMID:24350019|ICD9:704.09|UMLS:C0002173|ICD10:L65.2|DOID:9905|NCIT:C82859|SCTID:27382006		alopecia mucinosis|hair follicle cutaneous focal mucinosis|cutaneous focal mucinosis of hair follicle|alopecia mucinosa|alopecia Mucinosa|follicular mucinosis	http://purl.obolibrary.org/obo/MONDO_0006551	A rare dermatologic disorder characterized by the accumulation of mucinous material in the hair follicles. In some cases it is associated with lymphoproliferative disorders, most often mycosis fungoides and Hodgkin lymphoma.	SNOMEDCT:27382006|DOID:9905|UMLS:C0002173|NCIT:C82859|MESH:D000507
UBERON:0015178	somite border	biolink:AnatomicalEntity	mondo			intersomitic junction|inter-somited border|somite boundary|intersomitic boundary|intersomitic fissure|segmental border	http://purl.obolibrary.org/obo/UBERON_0015178	A region of somite adjacent to presomitic mesoderm.	
NCBITaxon:43351	Dientamoeba	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_43351		
MONDO:0018547	acute tricyclic antidepressant poisoning	biolink:Disease	mondo	ICD10:T43.0|UMLS:CN227537|Orphanet:43117	ordo_clinical_situation		http://purl.obolibrary.org/obo/MONDO_0018547	Acute tricyclic antidepressant (TCA) poisoning is a potentially lethal intoxication that is characterized by life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jerks), refractory hypotension, and sudden death.	UMLS:CN227537|ORPHA:43117
MONDO:0018546	serotonin syndrome	biolink:Disease	mondo	SCTID:371089000|MESH:D020230|EFO:1001842|ICD9:333.99|Orphanet:43116|MedDRA:10040108	ordo_disease	serotonin toxicity|serotonin toxidrome|serotonin storm|serotonergic syndrome	http://purl.obolibrary.org/obo/MONDO_0018546	Serotoninergic syndrome is characterised by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs).	MESH:D020230|SNOMEDCT:371089000|MEDDRA:10040108|ORPHA:43116|UMLS:C0699828
HP:0003249	Genital ulcers	biolink:PhenotypicFeature	mondo	UMLS:C0151281		Genital ulcers	http://purl.obolibrary.org/obo/HP_0003249		
MONDO:0018549	late-onset scapuloperoneal muscular dystrophy with hyaline bodies	biolink:Disease	mondo	Orphanet:431263|UMLS:CN237548	ordo_group_of_disorders	late-onset scapuloperoneal syndrome, myopathic type|late-onset SPMD with hyaline bodies	http://purl.obolibrary.org/obo/MONDO_0018549		ORPHA:431263|UMLS:CN237548
MONDO:0018548	acute poisoning by drugs with membrane-stabilizing effect	biolink:Disease	mondo	UMLS:CN227538|Orphanet:43119	ordo_clinical_situation		http://purl.obolibrary.org/obo/MONDO_0018548	Acute poisoning with a membrane-stabilizing effect is potentially life-threatening. The principle drugs involved are tricyclic antidepressants, chloroquine, some types of beta blockers, class IA antiarrhythmics, carbamazepin and cocaine.	UMLS:CN227538|ORPHA:43119
MONDO:0018543	autosomal dominant hypocalcemia	biolink:Disease	mondo	ICD10:E20.8|UMLS:CN205077|DOID:0090109|OMIMPS:601198|GARD:0002877|Orphanet:428|SCTID:711152006	ordo_clinical_subtype|gard_rare	hypocalcemia, autosomal dominant|hypocalcemia|HYPOC|AD hypocalcemia	http://purl.obolibrary.org/obo/MONDO_0018543	Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria.	SNOMEDCT:711152006|ORPHA:428|DOID:0090109|UMLS:CN205077
MONDO:0018542	severe congenital neutropenia	biolink:Disease	mondo	ICD9:288.01|DOID:0050590|SCTID:89655007|Orphanet:42738|OMIMPS:202700|MedDRA:10052210|ICD10:D70	ordo_group_of_disorders	neutropenia, severe congenital|SCN	http://purl.obolibrary.org/obo/MONDO_0018542		MEDDRA:10052210|MESH:C537592|DOID:0050590|SNOMEDCT:89655007|UMLS:C1853118|ORPHA:42738
MONDO:0018545	obsolete primary immunodeficiency with predisposition to severe viral infection	biolink:Disease	mondo	Orphanet:431156	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018545		ORPHA:431156
MONDO:0018544	X-linked adrenoleukodystrophy	biolink:Disease	mondo	ICD9:341.1|NCIT:C61252|GARD:0005758|MedDRA:10051260|ICD10:E71.52|ICD10:E71.3|ICD10:E71.529|MESH:D000326|DOID:10588|ICD10:G37.0|Orphanet:43	ordo_disease	Siemerling-Creutzfeldt disease|X-linked ALD|encephalitis periaxialis, Schilder's|Bronze-Schilder disease|X-ALD|diffuse cerebral sclerosis of Schilder|Schilder disease|X-linked adrenoleukodystrophy|ALD|sudanophilic cerebral sclerosis|adrenoleukodystrophy|diffuse sclerosis|adrenoleukodystrophy, X-linked|Schilder's disease|encephalitis periaxialis concentrica	http://purl.obolibrary.org/obo/MONDO_0018544	X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency.	ORPHA:43|DOID:10588|MESH:D000326|UMLS:C0162309|MEDDRA:10051260|NCIT:C61252
MONDO:0018541	familial hypoaldosteronism	biolink:Disease	mondo	SCTID:715343000|UMLS:CN205074|ICD10:E27.4|Orphanet:427|UMLS:C4275180	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018541	Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone).	UMLS:C4275180|ORPHA:427|UMLS:CN205074|SNOMEDCT:715343000
HP:0003241	External genital hypoplasia	biolink:PhenotypicFeature	mondo	UMLS:C1855333		Hypogenitalism|Underdevelopment of external reproductive organs|Small genitalia	http://purl.obolibrary.org/obo/HP_0003241	Underdevelopment of part or all of the external reproductive organs.	
MONDO:0018540	PFAPA syndrome	biolink:Disease	mondo	UMLS:CN205072|GARD:0005657|SCTID:717231003|ICD10:E85.0|Orphanet:42642|NCIT:C116917|UMLS:C4082167	ordo_disease	periodic fever, aphthous stomatitis, pharyngitis, adenitis syndrome|periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome|Marshall syndrome|periodic fever, aphthous stomatitis, pharyngitis and adenitis|Marshall syndrome with periodic fever|PFAPA	http://purl.obolibrary.org/obo/MONDO_0018540	PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis.	SNOMEDCT:717231003|NCIT:C116917|UMLS:CN205072|ORPHA:42642|UMLS:C4082167
UBERON:0015165	multi-unit eye	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015165	An eye consisting of multiple light-sensing organs	
MONDO:0006569	leg dermatosis	biolink:Disease	mondo	UMLS:C0023219|DOID:3142|EFO:1000723|MESH:D007868			http://purl.obolibrary.org/obo/MONDO_0006569	A nonspecific term used to denote any cutaneous lesion or group of lesions, or eruptions of any type on the leg. (From Stedman, 25th ed)	MESH:D007868|DOID:3142|UMLS:C0023219
MONDO:0006567	kernicterus due to isoimmunization	biolink:Disease	mondo	ICD9:773.4|ICD10:P57.0|UMLS:C0270204|NCIT:C101270|EFO:1000721|DOID:12043|SCTID:359007		kernicterus related to isoimmunization|kernicterus due to isoimmunization of fetus or newborn|kernicterus - due to isoimm.	http://purl.obolibrary.org/obo/MONDO_0006567	Encephalopathy in infants due to high levels of unconjugated bilirubin that are a result of Rh incompatibility between the mother and the fetus.	UMLS:C0270204|SNOMEDCT:359007|NCIT:C101270|DOID:12043
MONDO:0006568	obsolete Kimura disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006568		
NCBITaxon:168	Treponema pallidum subsp. pertenue	organism taxon	mondo	GC_ID:11		Treponema pertenue|Treponema pallidum pertenue|yaws treponeme	http://purl.obolibrary.org/obo/NCBITaxon_168		
MONDO:0006565	juvenile dermatitis herpetiformis	biolink:Disease	mondo	ICD10:L12.2|ICD9:694.2|DOID:8507|UMLS:C0152092|EFO:1000719|SCTID:5906000			http://purl.obolibrary.org/obo/MONDO_0006565	Dermatitis herpetiformis in children	DOID:8507|UMLS:C0152092|SNOMEDCT:5906000
MONDO:0006566	keratosis	biolink:Disease	mondo	UMLS:C0022593|NCIT:C34745|SCTID:254666005|MESH:D007642|EFO:1000720|DOID:161		keratoderma	http://purl.obolibrary.org/obo/MONDO_0006566	A skin disorder consisting of hypertrophy of the stratum corneum of the skin.	UMLS:C0022593|SNOMEDCT:254666005|DOID:161|NCIT:C34745|NCIT:C34747|MESH:D007642
MONDO:0006563	inverted follicular keratosis	biolink:Disease	mondo	ICD9:264.8|NCIT:C9007|DOID:6945|UMLS:C0334019|EFO:1000717|Wikipedia:Inverted_follicular_keratosis|SCTID:394728005		inverted folicular keratosis|inverted follicular keratosis	http://purl.obolibrary.org/obo/MONDO_0006563	Seborrheic keratosis that arises from follicular structures in the skin. It presents as a solitary nodule in the skin and is characterized by the presence of prominent squamous eddies.	SNOMEDCT:394728005|UMLS:C0334019|NCIT:C9007|DOID:6945
MONDO:0006564	irritant dermatitis	biolink:Disease	mondo	ICD9:692.9|COHD:4004352|ICD10:L24.9|UMLS:C0162823|DOID:2772|MESH:D017453|SCTID:110979008|NCIT:C27151|EFO:1000718|ICD10:L24		primary irritant dermatitis|irritant contact dermatitis	http://purl.obolibrary.org/obo/MONDO_0006564	An inflammatory skin condition caused by direct contact between the skin and an irritating substance. It is typically manifested by erythema, mild edema, and scaling at the affected site.	MESH:D017453|SNOMEDCT:110979008|UMLS:C0162823|NCIT:C27151|DOID:2772
MONDO:0006561	eyelid hypopigmentation	biolink:Disease	mondo	EFO:1000713|UMLS:C0155212|SCTID:68210006|ICD10:H02.73|DOID:11668|ICD9:374.53		hypopigmentation of eyelid	http://purl.obolibrary.org/obo/MONDO_0006561	Under-production of pigment in the eyelid.	DOID:11668|UMLS:C0155212|SNOMEDCT:68210006
MONDO:0006562	obsolete incontinentia pigmenti achromians	biolink:Disease	mondo	SCTID:218358001|EFO:1000716		incontinentia pigmenti syndrome|incontinentia pigmenti achromians syndrome	http://purl.obolibrary.org/obo/MONDO_0006562		SNOMEDCT:218358001
MONDO:0006560	hypohidrosis	biolink:Disease	mondo	EFO:1000712|UMLS:C0020620|SCTID:45004005|DOID:11155|ICD10:L74.4|MESH:D007007|HP:0000966|Wikipedia:Hypodidrosis		Oligohidrosis	http://purl.obolibrary.org/obo/MONDO_0006560	Reduced sweating. Causes include burns, dehydration, radiation, and leprosy.	UMLS:C0020620|SNOMEDCT:45004005|MESH:D007007|NCIT:C34718|DOID:11155
NCBITaxon:160	Treponema pallidum	organism taxon	mondo	GC_ID:11		Spirillum pallidum|Spirochaeta pallida|Microspironema pallidum|Spironema pallidum	http://purl.obolibrary.org/obo/NCBITaxon_160		
MONDO:0018539	rare epithelial tumor of small intestine	biolink:Disease	mondo	UMLS:CN237541|Orphanet:425368	ordo_group_of_disorders|obsoletion_candidate	rare epithelial tumor of small bowel	http://purl.obolibrary.org/obo/MONDO_0018539		UMLS:CN237541|ORPHA:425368
NCBITaxon:163343	Trichostomatia	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_163343		
HP:0003256	Abnormality of the coagulation cascade	biolink:PhenotypicFeature	mondo	UMLS:C0005779|SNOMEDCT_US:362970003|MSH:D001778|SNOMEDCT_US:64779008		Coagulopathy	http://purl.obolibrary.org/obo/HP_0003256	An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators.	
MONDO:0018536	adenocarcinoma of gallbladder and extrahepatic biliary tract	biolink:Disease	mondo	ICD10:C24.1|Orphanet:424991|ICD10:C24.0|ICD10:C28.9|ICD10:C23|SCTID:765741003|UMLS:CN237537|ICD10:C24.8	ordo_disease	adenocarcinoma of the gallbladder and EBT|adenocarcinoma of gallbladder and EBT|adenocarcinoma of the gallbladder and extrahepatic biliary tract	http://purl.obolibrary.org/obo/MONDO_0018536	Adenocarcinoma of the gallbladder and extrahepatic biliary tract is a rare epithelial carcinoma, arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland, characterized by nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (e.g. primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor.	SNOMEDCT:765741003|UMLS:CN237537|ORPHA:424991
MONDO:0018535	biliary cystadenocarcinoma	biolink:Disease	mondo	Orphanet:424982|ICD10:C22.1|UMLS:C2064409	ordo_disease	intrahepatic bile duct cystadenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0018535	A cystadenocarcinoma that involves the biliary tree.	UMLS:C2064409|ORPHA:424982
MONDO:0018538	inherited digestive cancer-predisposing syndrome	biolink:Disease	mondo	Orphanet:425003|UMLS:CN237539	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018538		UMLS:CN237539|ORPHA:425003
MONDO:0018537	squamous cell carcinoma of gallbladder and extrahepatic biliary tract	biolink:Disease	mondo	SCTID:766978002|ICD10:C24.1|Orphanet:424996|ICD10:C24.0|ICD10:C23|ICD10:C24.9|ICD10:C24.8|UMLS:CN237538	ordo_disease	squamous cell carcinoma of gallblader and EBT	http://purl.obolibrary.org/obo/MONDO_0018537	Squamous cell carcinoma of the gallbladder and extrahepatic biliary tract is a rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement.	SNOMEDCT:766978002|ORPHA:424996|UMLS:CN237538
MONDO:0018532	adenocarcinoma of liver and intrahepatic biliary tract	biolink:Disease	mondo	UMLS:CN242181|ICD10:C22.1|ICD10:C22.0|Orphanet:424943	ordo_disease	adenocarcinoma of the liver and IBT|adenocarcinoma of liver and IBT|adenocarcinoma of the liver and intrahepatic biliary tract	http://purl.obolibrary.org/obo/MONDO_0018532		UMLS:CN242181|ORPHA:424943
MONDO:0018531	carcinoma of liver and intrahepatic biliary tract	biolink:Disease	mondo	NCIT:C7927|ONCOTREE:HCCIHCH|Orphanet:424936|UMLS:C0279000	ordo_group_of_disorders	liver cancer|liver and intrahepatic bile duct cancer|carcinoma of liver|hepatocellular carcinoma plus intrahepatic cholangiocarcinoma|primary liver carcinoma|carcinoma of liver and IBT|liver and intrahepatic bile duct carcinoma|cancer of liver and intrahepatic biliary tract|cancer of the liver and intrahepatic biliary tract|liver and intrahepatic biliary tract cancer|liver carcinoma|hepatic cancer|liver and hepatobiliary cancer, NOS|liver/hepatobiliary cancer|cancer of the liver|cancer of liver|liver and intrahepatic biliary tract carcinoma	http://purl.obolibrary.org/obo/MONDO_0018531	A carcinoma that arises from the hepatocytes or intrahepatic bile ducts. The main subtypes are hepatocellular carcinoma (hepatoma) and cholangiocarcinoma.	NCIT:C7927|UMLS:C0279000|ORPHA:424936
MONDO:0018534	squamous cell carcinoma of liver and intrahepatic biliary tract	biolink:Disease	mondo	ICD10:C22.1|ICD10:C22.0|UMLS:CN242131|Orphanet:424975	ordo_disease	squamous cell carcinoma of liver and IBT	http://purl.obolibrary.org/obo/MONDO_0018534	Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare, primary, malignant liver and biliray tract epithelial tumor originating in the intrahepatic bile duct epithelium histologically characterized by the presence of keratinization and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia.	UMLS:CN242131|ORPHA:424975
MONDO:0018533	undifferentiated carcinoma of liver and intrahepatic biliary tract	biolink:Disease	mondo	ICD10:C22.7|Orphanet:424970|ICD10:C22.1|ICD10:C22.0|UMLS:CN242153	ordo_disease	undifferentiated carcinoma of liver and IBT	http://purl.obolibrary.org/obo/MONDO_0018533	Undifferentiated carcinoma of liver and intrahepatic biliary tract is an extremely rare epithelial tumor of the liver and biliary tract which presents heterogenous histological findings and not yet fully defined clinicopathological characterisitcs. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, hight metastatic potential and a rapid clinical course are typically associated.	UMLS:CN242153|ORPHA:424970
MONDO:0018530	rare epithelial tumor of liver and intrahepatic biliary tract	biolink:Disease	mondo	UMLS:CN237535|Orphanet:424933	obsoletion_candidate|ordo_group_of_disorders	rare epithelial tumor of liver and IBT	http://purl.obolibrary.org/obo/MONDO_0018530		ORPHA:424933|UMLS:CN237535
UBERON:0005749	glomerular tuft	biolink:AnatomicalEntity	mondo			glomerular capillary tuft|glomerulus	http://purl.obolibrary.org/obo/UBERON_0005749	The capillary loops of the kidney that normally function as a filtration unit[MP].	
HGNC:1500	CASP10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1500		
GO:0021700	developmental maturation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0021700	A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure, cell or cellular component to attain its fully functional state.	
UBERON:0005754	rostral part of nephrogenic cord	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005754	The initial renal anlage that develops from the most rostral part of the nephrogenic cord is termed the pronephros.	
UBERON:0005753	caudal part of nephrogenic cord	biolink:AnatomicalEntity	mondo			caudal region of nephrogenic cord|rear portion of nephrogenic cord|rear part of nephrogenic cord|caudal portion of nephrogenic cord	http://purl.obolibrary.org/obo/UBERON_0005753	The metanephros develops from the most caudal part of the nephrogenic cord that is itself derived from the intermediate plate mesoderm.	
HGNC:1509	CASP8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1509		
GO:0043062	extracellular structure organization	biolink:OntologyClass	mondo			extracellular structure organization and biogenesis|extracellular structure organisation	http://purl.obolibrary.org/obo/GO_0043062	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of structures in the space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane, and also covers the host cell environment outside an intracellular parasite.	
HGNC:1502	CASP14	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1502		
GO:0043069	negative regulation of programmed cell death	biolink:OntologyClass	mondo			down-regulation of programmed cell death|down regulation of programmed cell death|inhibition of programmed cell death|negative regulation of non-apoptotic programmed cell death|downregulation of programmed cell death	http://purl.obolibrary.org/obo/GO_0043069	Any process that stops, prevents, or reduces the frequency, rate or extent of programmed cell death, cell death resulting from activation of endogenous cellular processes.	
GO:0043068	positive regulation of programmed cell death	biolink:OntologyClass	mondo			activation of programmed cell death|stimulation of programmed cell death|upregulation of programmed cell death|positive regulation of non-apoptotic programmed cell death|up-regulation of programmed cell death|up regulation of programmed cell death	http://purl.obolibrary.org/obo/GO_0043068	Any process that activates or increases the frequency, rate or extent of programmed cell death, cell death resulting from activation of endogenous cellular processes.	
GO:0043065	positive regulation of apoptotic process	biolink:OntologyClass	mondo			upregulation of apoptosis|pro-apoptosis|up-regulation of apoptosis|positive regulation of apoptosis|up regulation of apoptosis|activation of apoptosis|stimulation of apoptosis	http://purl.obolibrary.org/obo/GO_0043065	Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process.	
GO:0043067	regulation of programmed cell death	biolink:OntologyClass	mondo			regulation of non-apoptotic programmed cell death	http://purl.obolibrary.org/obo/GO_0043067	Any process that modulates the frequency, rate or extent of programmed cell death, cell death resulting from activation of endogenous cellular processes.	
GO:0043066	negative regulation of apoptotic process	biolink:OntologyClass	mondo			down-regulation of apoptosis|down regulation of apoptosis|apoptosis inhibitor activity|downregulation of apoptosis|inhibition of apoptosis|negative regulation of apoptosis|pro-survival|anti-apoptosis	http://purl.obolibrary.org/obo/GO_0043066	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.	
NCBITaxon:7148	Nematocera	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_7148		
NCBITaxon:7147	Diptera	organism taxon	mondo	GC_ID:1		flies|flies	http://purl.obolibrary.org/obo/NCBITaxon_7147		
HGNC:1512	CASQ1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1512		
UBERON:0005745	optic foramen	biolink:AnatomicalEntity	mondo			optic canal|optic nerve (II) foramen|optic nerve foramen|optic foramen|canalis opticus|foramen opticum ossis sphenoidalis	http://purl.obolibrary.org/obo/UBERON_0005745	An opening in the skull through which cranial nerve II passes.[MP].	
UBERON:0005744	bone foramen	biolink:AnatomicalEntity	mondo			foramens@fr|foramina@fr|foramen	http://purl.obolibrary.org/obo/UBERON_0005744	Anatomical space that is an opening in a bone, usually for passage of blood vessels or nerves.	
UBERON:0005742	adventitia	biolink:AnatomicalEntity	mondo			tunica advetitia|tunica externa	http://purl.obolibrary.org/obo/UBERON_0005742	An outermost connective tissue covering of an organ, vessel, or other structure[WP].	
UBERON:0005740	tunica intima of artery	biolink:AnatomicalEntity	mondo			tunica interna (intima)(arteriae)|arterial intima	http://purl.obolibrary.org/obo/UBERON_0005740	A tunica intima that is part of a artery.	
HGNC:1515	CAST	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1515		
UBERON:0005729	pectoral appendage field	biolink:AnatomicalEntity	mondo			pectoral appendage field of lateral plate mesoderm|pectoral fin field	http://purl.obolibrary.org/obo/UBERON_0005729	A limb/fin field that has the potential to develop into a pectoral appendage bud mesenchyme.	
UBERON:0005728	extraembryonic mesoderm	biolink:AnatomicalEntity	mondo			extra-embryonic mesoderm|extraembryonic mesenchyme	http://purl.obolibrary.org/obo/UBERON_0005728	.	
HGNC:1516	CAT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1516		
HGNC:1513	CASQ2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1513		
NCBITaxon:1485168	Longamoebia	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1485168		
HGNC:1514	CASR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1514		
UBERON:0005726	chemosensory system	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005726		
UBERON:0005734	tunica adventitia of blood vessel	biolink:AnatomicalEntity	mondo			tunica externa vasorum|tunica adventitia|tunica adventitia of vessel|tunica adventitia vasorum|external coat|adventitia externa	http://purl.obolibrary.org/obo/UBERON_0005734	The outermost layer of a blood vessel, composed mainly of fibrous tissue.	
UBERON:0005733	limb field	biolink:AnatomicalEntity	mondo			limb field of lateral plate mesoderm	http://purl.obolibrary.org/obo/UBERON_0005733	A ring of cells capable of forming a limb.	
UBERON:0005732	paired limb/fin field	biolink:AnatomicalEntity	mondo			limb/fin field of lateral plate mesoderm|paired limb/fin field	http://purl.obolibrary.org/obo/UBERON_0005732	A ring of cells capable of forming a limb or paired fin[Gilbert,modified].	
UBERON:0005730	pelvic appendage field	biolink:AnatomicalEntity	mondo			pelvic appendage field of lateral plate mesoderm|pelvic fin field	http://purl.obolibrary.org/obo/UBERON_0005730	A limb/fin field that has the potential to develop into a pelvic appendage bud mesenchyme.	
GO:0043085	positive regulation of catalytic activity	biolink:OntologyClass	mondo			up-regulation of metalloenzyme activity|stimulation of metalloenzyme activity|up-regulation of enzyme activity|activation of metalloenzyme activity|upregulation of metalloenzyme activity|up regulation of enzyme activity|activation of enzyme activity|positive regulation of enzyme activity|positive regulation of metalloenzyme activity|stimulation of enzyme activity|up regulation of metalloenzyme activity|upregulation of enzyme activity	http://purl.obolibrary.org/obo/GO_0043085	Any process that activates or increases the activity of an enzyme.	
UBERON:0005719	footplate apical ectodermal ridge	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005719	An apical ectodermal ridge that is part of a footplate.	
HGNC:1529	CAV3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1529		
GO:0043084	penile erection	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0043084	The hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow.	
HGNC:1527	CAV1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1527		
GO:0043086	negative regulation of catalytic activity	biolink:OntologyClass	mondo			negative regulation of enzyme activity|down-regulation of enzyme activity|downregulation of metalloenzyme activity|down regulation of enzyme activity|down regulation of metalloenzyme activity|inhibition of enzyme activity|downregulation of enzyme activity|negative regulation of metalloenzyme activity|inhibition of metalloenzyme activity|down-regulation of metalloenzyme activity	http://purl.obolibrary.org/obo/GO_0043086	Any process that stops or reduces the activity of an enzyme.	
UBERON:0005725	olfactory system	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005725	A sensory system that is capable of olfacttion (the sensory perception of smell).	
UBERON:0005724	roof plate spinal cord region	biolink:AnatomicalEntity	mondo			roof plate spinal cord|roofplate spinal cord|spinal cord roof	http://purl.obolibrary.org/obo/UBERON_0005724	A tissue that is part of a spinal cord and is part of a roof plate.	
HP:0030809	Abnormal tongue morphology	biolink:PhenotypicFeature	mondo	UMLS:C4280755			http://purl.obolibrary.org/obo/HP_0030809	Any structural anomaly of the tongue.	
UBERON:0005721	pronephric mesoderm	biolink:AnatomicalEntity	mondo			pronephric mesenchyme|pronephric bulge|pronephric primordium|pronephric anlage	http://purl.obolibrary.org/obo/UBERON_0005721	A mesoderm that has the potential to develop into a pronephros.	
GO:0055065	metal ion homeostasis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0055065	Any process involved in the maintenance of an internal steady state of metal ions within an organism or cell.	
UBERON:0005720	hindbrain venous system	biolink:AnatomicalEntity	mondo			rhombencephalon venous system	http://purl.obolibrary.org/obo/UBERON_0005720	A venous system that is part of a hindbrain.	
HGNC:1530	MICU1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1530		
GO:0055067	monovalent inorganic cation homeostasis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0055067	Any process involved in the maintenance of an internal steady state of monovalent inorganic cations within an organism or cell.	
GO:0055072	iron ion homeostasis	biolink:OntologyClass	mondo			iron homeostasis	http://purl.obolibrary.org/obo/GO_0055072	Any process involved in the maintenance of an internal steady state of iron ions within an organism or cell.	
GO:0055074	calcium ion homeostasis	biolink:OntologyClass	mondo			regulation of calcium ion concentration	http://purl.obolibrary.org/obo/GO_0055074	Any process involved in the maintenance of an internal steady state of calcium ions within an organism or cell.	
UBERON:0005792	nephric ridge	biolink:AnatomicalEntity	mondo			nephric cord	http://purl.obolibrary.org/obo/UBERON_0005792	Nephric tubules (nephrons) form embryonically along the nephric ridge. The ridge comprises three regions; anterior, middle and posterior. The functional kidney uses nephrons from only one or two regions of the ridge. A pronephric kidney uses only the nephrons from the anterior region of the ridge. A mesonephric kidney uses only the middle region, a metanephric kidney uses only the posterior region and an opisthonephric kidney uses the middle and posterior regions.	
FOODON:00002403	food material	biolink:OntologyClass	mondo			foodstuff|sustenance|food|nourishment	http://purl.obolibrary.org/obo/FOODON_00002403	Any substance that can be consumed by an organism to satisfy nutritional or other health needs, or to provide a social or organoleptic food experience	
GO:0055070	copper ion homeostasis	biolink:OntologyClass	mondo			copper homeostasis	http://purl.obolibrary.org/obo/GO_0055070	Any process involved in the maintenance of an internal steady state of copper ions within an organism or cell.	
NCBITaxon:7178	Culex tritaeniorhynchus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_7178		
UBERON:0003135	male reproductive organ	biolink:AnatomicalEntity	mondo			male reproductive system organ|reproductive organ of male organism|reproductive structure of male organism|male organism sex organ|male organism reproductive structure|male organism reproductive system organ|male organism reproductive organ|reproductive system organ of male organism|sex organ of male organism|male sex organ|male reproductive gland/organ	http://purl.obolibrary.org/obo/UBERON_0003135	A male organ involved in reproduction	
GO:0055076	transition metal ion homeostasis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0055076	Any process involved in the maintenance of an internal steady state of transition metal ions within an organism or cell. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver.	
HGNC:1540	SERPINA6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1540		
HGNC:1541	CBL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1541		
UBERON:0003133	reproductive organ	biolink:AnatomicalEntity	mondo			genitalia|sex organ|genital organ|reproductive system organ	http://purl.obolibrary.org/obo/UBERON_0003133	An organ involved in reproduction	
GO:0055078	sodium ion homeostasis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0055078	Any process involved in the maintenance of an internal steady state of sodium ions within an organism or cell.	
UBERON:0003134	female reproductive organ	biolink:AnatomicalEntity	mondo			female reproductive system organ|reproductive organ of female organism|reproductive structure of female organism|female organism sex organ|female organism reproductive system organ|female organism reproductive structure|reproductive system organ of female organism|female organism reproductive organ|sex organ of female organism|female reproductive gland/organ|female sex organ	http://purl.obolibrary.org/obo/UBERON_0003134	A female organ involved in reproduction	
UBERON:0005795	embryonic uterus	biolink:AnatomicalEntity	mondo			fetal uterus	http://purl.obolibrary.org/obo/UBERON_0005795		
NCBITaxon:7174	Culex <genus>	organism taxon	mondo	GC_ID:1		Culex	http://purl.obolibrary.org/obo/NCBITaxon_7174		
MONDO:0006507	hereditary hemochromatosis	biolink:Disease	mondo	GARD:0010746|DOID:2352|EFO:1000642|NCIT:C84481|MESH:D006432|ICD10:E83.11|OMIMPS:235200|ICD10:E83.110|ICD10:E83.119|SCTID:399187006|COHD:4148231		iron storage disorder|hemochromatosis, hereditary|haemochromatosis|diabetes bronze|hemochromatosis	http://purl.obolibrary.org/obo/MONDO_0006507	An inherited metabolic disorder characterized by iron accumulation in the tissues.	DOID:2352|MESH:D006432|SNOMEDCT:399187006|NCIT:C84481
MONDO:0006508	obsolete infantile epileptic encephalopathy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006508		
MONDO:0006505	basal ganglia cerebrovascular disease	biolink:Disease	mondo	MESH:D020144|EFO:1000640|DOID:10991|UMLS:C0751739		collection of basal ganglia cerebrovascular disorder|cerebrovascular disorder of collection of basal ganglia	http://purl.obolibrary.org/obo/MONDO_0006505	A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (basal ganglia), such as infarction; hemorrhage; or ischemia in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (dyskinesias) and muscle weakness (hemiparesis).	DOID:10991|UMLS:C0751739|MESH:D020144
MONDO:0006506	congenital nonspherocytic hemolytic anemia	biolink:Disease	mondo	EFO:1000641|ICD9:282.3|MESH:D000746|SCTID:301317008|UMLS:C0002882|DOID:2861		hereditary nonspherocytic hemolytic anemia|HNSHA	http://purl.obolibrary.org/obo/MONDO_0006506	Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase.	UMLS:C0002882|SNOMEDCT:301317008|MESH:D000746|DOID:2861
MONDO:0006503	obsolete episodic ataxia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006503		
MONDO:0006504	acquired metabolic disease	biolink:Disease	mondo	DOID:0060158|EFO:1000639		acquired metabolic disease	http://purl.obolibrary.org/obo/MONDO_0006504	An instance of metabolic disease that is acquired during the lifetime of the individual.	DOID:0060158
MONDO:0006501	obsolete inflammatory skin disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006501		
UBERON:0003119	pharyngeal arch artery 2	biolink:AnatomicalEntity	mondo			hyoid aortic arch|AA2|2nd aortic arch artery|second aortic arch|aortic arch 2|2nd pharyngeal arch artery|2nd arch artery|second branchial arch artery|2nd branchial arch artery	http://purl.obolibrary.org/obo/UBERON_0003119	The vessels formed within the second pair of branchial arches in embryogenesis	
HGNC:1546	SERPINH1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1546		
MONDO:0006502	acute respiratory distress syndrome	biolink:Disease	mondo	MedDRA:10001052|COHD:4195694|NCIT:C3353|GARD:0005698|EFO:1000637|ICD10:J80	gard_rare	acute lung injury|acute respiratory distress syndrome|ARDS|non-cardiogenic pulmonary edema|increased-permeability pulmonary edema|ALI|shock lung|Stiff lung	http://purl.obolibrary.org/obo/MONDO_0006502	Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition.	NCIT:C3353
MONDO:0006500	hemangioma	biolink:Disease	mondo	ICD9:228.0|MESH:D006391|ICD10:D18.0|SCTID:400210000|UMLS:C0018916|ONCOTREE:HEMA|ICDO:9120/0|COHD:441818|ICD9:228.00|HP:0001028|DOID:255|ICD10:D18.00|GARD:0010759|EFO:1000635|NCIT:C3085|ICD9:228.09		hemangioma|benign angioma|benign hemangioma|angioma|hemangioma, benign	http://purl.obolibrary.org/obo/MONDO_0006500	A benign vascular lesion characterized by the formation of capillary-sized or cavernous vascular channels.	DOID:255|SNOMEDCT:400210000|MESH:D006391|UMLS:C0018916|NCIT:C3085
UBERON:0003120	pharyngeal arch artery 3	biolink:AnatomicalEntity	mondo			3rd pharyngeal arch artery|aortic arch 3|third branchial arch artery|3rd arch artery|3rd branchial arch artery|3rd aortic arch artery|third aortic arch|AA3|carotid arch	http://purl.obolibrary.org/obo/UBERON_0003120	The vessels formed within the third pair of branchial arches in embryogenesis	
UBERON:0003121	pharyngeal arch artery 4	biolink:AnatomicalEntity	mondo			4th aortic arch artery|aortic arch 4|fourth branchial arch artery|4th pharyngeal arch artery|4th arch artery|systemic arch|4th branchial arch artery|fourth aortic arch|AA4	http://purl.obolibrary.org/obo/UBERON_0003121	The vessels formed within the fourth pair of branchial arches in embryogenesis	
GO:0055085	transmembrane transport	biolink:OntologyClass	mondo			membrane transport|ATP hydrolysis coupled transmembrane transport	http://purl.obolibrary.org/obo/GO_0055085	The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other.	
GO:0055086	nucleobase-containing small molecule metabolic process	biolink:OntologyClass	mondo			nucleobase, nucleoside and nucleotide metabolic process|nucleobase, nucleoside and nucleotide metabolism	http://purl.obolibrary.org/obo/GO_0055086	The cellular chemical reactions and pathways involving a nucleobase-containing small molecule: a nucleobase, a nucleoside, or a nucleotide.	
NCBITaxon:7180	Haemagogus <genus>	organism taxon	mondo	GC_ID:1		Haemagogus	http://purl.obolibrary.org/obo/NCBITaxon_7180		
GO:0055080	cation homeostasis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0055080	Any process involved in the maintenance of an internal steady state of cations within an organism or cell.	
GO:0055081	anion homeostasis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0055081	Any process involved in the maintenance of an internal steady state of anions within an organism or cell.	
GO:0055082	cellular chemical homeostasis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0055082	Any biological process involved in the maintenance of an internal steady state of a chemical at the level of the cell.	
UBERON:0003128	cranium	biolink:AnatomicalEntity	mondo			calvarium|upper part of skull|skull minus mandible|bones of cranium|epicranial plate|skeletal system of head|ossa cranii|set of bones of cranium	http://purl.obolibrary.org/obo/UBERON_0003128	Upper portion of the skull that excludes the mandible (when present in the organism).	
UBERON:0003129	skull	biolink:AnatomicalEntity	mondo			cranial skeleton|skeletal system of head	http://purl.obolibrary.org/obo/UBERON_0003129	Anatomical structure that is part of the head consisting entirely of cranium and mandible[WP].	
UBERON:0003126	trachea	biolink:AnatomicalEntity	mondo			cartilaginous trachea|vertebrate trachea|tracheal tubule|windpipe	http://purl.obolibrary.org/obo/UBERON_0003126	The trachea is the portion of the airway that attaches to the bronchi as it branches [GO:dph].	
NCBITaxon:70999	Triatominae	organism taxon	mondo	GC_ID:1		kissing bugs	http://purl.obolibrary.org/obo/NCBITaxon_70999		
UBERON:0005788	lamina rara interna	biolink:AnatomicalEntity	mondo			lamina interna of glomerular basement membrane|internal layer of glomerular basement membrane	http://purl.obolibrary.org/obo/UBERON_0005788	Layer of the glomerular basement membrane adjacent to the glomerular capillary.	
UBERON:0003124	chorion membrane	biolink:AnatomicalEntity	mondo			fetal chorion|chorion|chorion frondosum|chorion (vertebrates)|embryonic chorion|chorionic sac|uterine chorion	http://purl.obolibrary.org/obo/UBERON_0003124	the outermost extraembryonic membrane	
HGNC:1552	CBX2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1552		
GO:0055088	lipid homeostasis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0055088	Any process involved in the maintenance of an internal steady state of lipid within an organism or cell.	
UBERON:0003123	pharyngeal arch artery 6	biolink:AnatomicalEntity	mondo			aortic arch 6|sixth aortic arch|6th aortic arch artery|pulmonary arch|6th arch artery|6th pharyngeal arch artery|6th branchial arch artery|sixth branchial arch artery|AA6	http://purl.obolibrary.org/obo/UBERON_0003123	The vessels formed within the sixth pair of branchial arches in embryogenesis	
HGNC:1550	CBS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1550		
UBERON:0017750	proximal mesopodial endochondral element	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0017750	A mesopodial endochondral element that is in the most proximal part of the mesopodial skeleton, connected to the zeugopodial skeleton.	
UBERON:0017751	proximal mesopodial cartilage element	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0017751	A proximal mesopodial endochondral element that is composed primarily of cartilage tissue.	
FOODON:00002420	has ingredient	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00002420	A relation attaching between a food material and another food material that has been added to it at some point in its history.	
UBERON:0003110	otic region	biolink:AnatomicalEntity	mondo			cranial vault	http://purl.obolibrary.org/obo/UBERON_0003110		
GO:0055092	sterol homeostasis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0055092	Any process involved in the maintenance of an internal steady state of sterol within an organism or cell.	
UBERON:0003117	pharyngeal arch 6	biolink:AnatomicalEntity	mondo			fourth branchial arch|6th pharyngeal arch|branchial arch 4|visceral arch 6|6th visceral arch|sixth pharyngeal arch|sixth branchial arch|6th arch|sixth visceral arch|gill arch 4	http://purl.obolibrary.org/obo/UBERON_0003117	The 6th pharyngeal arch. contributes to the development of the sternocleidomastoid and trapezius muscles	
UBERON:0003118	pharyngeal arch artery 1	biolink:AnatomicalEntity	mondo			1st aortic arch artery|first branchial arch artery|1st arch artery|1st pharyngeal arch artery|1st branchial arch artery|AA1|first arch artery|aortic arch 1|first aortic arch|mandibular aortic arch	http://purl.obolibrary.org/obo/UBERON_0003118	The vessels formed within the first pair of branchial arches in embryogenesis	
UBERON:0003115	pharyngeal arch 4	biolink:AnatomicalEntity	mondo			4th visceral arch|branchial arch 2|fourth visceral arch|visceral arch 4|4th branchial arch|second branchial arch|4th arch|fourth pharyngeal arch|second gill arch|4th pharyngeal arch|gill arch 2	http://purl.obolibrary.org/obo/UBERON_0003115	contributes to development of the cartilage of the larynx, laryngeal, pharyngeal, and soft palate muscles, superior parathyroid gland, and C-cells of the thymus	
NCBITaxon:7157	Culicidae	organism taxon	mondo	GC_ID:1		mosquitos|mosquitos	http://purl.obolibrary.org/obo/NCBITaxon_7157		
CHEBI:58953	saturated fatty acid anion	biolink:ChemicalSubstance	mondo			saturated fatty acid anions	http://purl.obolibrary.org/obo/CHEBI_58953	Any fatty acid anion in which there is no C-C unsaturation.	
UBERON:0005777	glomerular basement membrane	biolink:AnatomicalEntity	mondo			glomerular filtration membrane|glomerular capillary basement membrane|GBM	http://purl.obolibrary.org/obo/UBERON_0005777	the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule; it is a fusion of the endothelial cell and podocyte basal laminas and acts as a physical barrier and an ion-selective filter	
UBERON:0003113	dermatocranium	biolink:AnatomicalEntity	mondo			dermal part of skull|roofing bones of the skull|dendrocranium|skull exoskeleton|dermal skull bones|dermal bone cranium|skull roof|exocranium|roof of skull|dermal skull roof|dermatocranial cover	http://purl.obolibrary.org/obo/UBERON_0003113	Subdivision of skeleton that includes all dermal bones in the cranial skeleton[ZFA,modified].	
UBERON:0003114	pharyngeal arch 3	biolink:AnatomicalEntity	mondo			3rd pharyngeal arch|first gill arch|third visceral arch|branchial arch 1|first branchial arch|visceral arch 3|3rd arch|3rd visceral arch|third pharyngeal arch|gill arch 1	http://purl.obolibrary.org/obo/UBERON_0003114	The third branchial arch contributes to the development of the hyoid bone, stylopharyngeus muscle, inferior parathyroid gland, and thymus.	
CHEBI:58951	short-chain fatty acid anion	biolink:ChemicalSubstance	mondo			a short-chain fatty acid|short-chain fatty acid anions	http://purl.obolibrary.org/obo/CHEBI_58951	Any fatty acid anion obtained by removal of a proton from the carboxy group of a short-chain fatty acid (chain length of less than C6).	
UBERON:0003111	sphenoid region	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0003111	Anatomical cluster that forms the floor and sidewalls of the middle part of the cranium.	
UBERON:0003112	olfactory region	biolink:AnatomicalEntity	mondo			ethmoid region	http://purl.obolibrary.org/obo/UBERON_0003112	Anatomical cluster that is located in the anterior region of the cranium and provides structural support for the olfactory organ.	
CHEBI:46963	2-aminooctadecene-1,3-diol	biolink:ChemicalSubstance	mondo			2-aminooctadecene-1,3-diols|2-aminooctadecene-1,3-diol	http://purl.obolibrary.org/obo/CHEBI_46963	An aminodiol composed of any octadecene having hydroxy functional groups at positions 1 and 3 and an amino substituent at position 2.	
CHEBI:46964	2-aminooctadec-4-ene-1,3-diol	biolink:ChemicalSubstance	mondo			2-aminooctadec-4-ene-1,3-diol|2-aminooctadec-4-ene-1,3-diols	http://purl.obolibrary.org/obo/CHEBI_46964	A 2-aminooctadecene-1,3-diol having its double bond at position 4.	
CHEBI:46965	(2R,3S)-2-aminooctadec-4-ene-1,3-diol	biolink:ChemicalSubstance	mondo			(2R,3S)-2-aminooctadec-4-ene-1,3-diol	http://purl.obolibrary.org/obo/CHEBI_46965	A 2-aminooctadec-4-ene-1,3-diol having (2R,3S)-configuration.	
NCBITaxon:7162	Ochlerotatus triseriatus	organism taxon	mondo	GC_ID:1		Aedes triseriatus	http://purl.obolibrary.org/obo/NCBITaxon_7162		
UBERON:0005760	urorectal septum	biolink:AnatomicalEntity	mondo			urorectal membrane|urorectal fold|septum urorectale|cloacal septum	http://purl.obolibrary.org/obo/UBERON_0005760	The ridge of mesoderm covered with endoderm that in the early developing embryo partitions the endodermal cloaca into the primary urogenital sinus (ventrally) and the anorectal canal of the hindgut (dorsally); the urorectal septum eventually fuses with the cloacal membrane, dividing it into a dorsal anal membrane and a larger ventral urogenital membrane - this area of fusion is represented in the adult by the perineal body[MP].	
HP:0005832	Dysharmonic delayed bone age	biolink:PhenotypicFeature	mondo	UMLS:C1859444			http://purl.obolibrary.org/obo/HP_0005832	A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones.	
CHEBI:46967	L-erythro-sphingosine	biolink:ChemicalSubstance	mondo			L-erythro-sphing-4-enine|(2R,3S,4E)-2-aminooctadec-4-ene-1,3-diol|L-Erythro-c18-sphingosine	http://purl.obolibrary.org/obo/CHEBI_46967	A (2R,3S)-2-aminooctadec-4-ene-1,3-diol in which the double bond has E geochemistry.	
CHEBI:58945	organophosphate oxoanion	biolink:ChemicalSubstance	mondo			organophosphate oxoanions	http://purl.obolibrary.org/obo/CHEBI_58945	An organic phosphoric acid derivative in which one or more oxygen atoms of the phosphate group(s) has been deprotonated.	
UBERON:0005769	basement membrane of epithelium	biolink:AnatomicalEntity	mondo			basement membrane|basement membrane of connective tissue|membrana basalis	http://purl.obolibrary.org/obo/UBERON_0005769	An acellular membrane that is part of the epithelium, lies adjacent to the epithelial cells, and is the fusion of the the basal lamina and the reticular lamina.	
UBERON:0003104	mesenchyme	biolink:AnatomicalEntity	mondo			mesenchyma|portion of mesenchymal tissue|mesenchymal tissue|portion of mesenchyme tissue|mesenchyme tissue	http://purl.obolibrary.org/obo/UBERON_0003104	Portion of tissue composed of mesenchymal cells (motile cells that develop from epthelia via an epithelial to mesenchymal transition) and surrounding extracellular material. Mesenchyme has different embryological origins in different metazoan taxa - in many invertebrates it derives in whole or part from ectoderm. In vertebrates it derives largely from mesoderm, and sometimes the terms are used interchangeably, e.g. lateral plate mesoderm/mesenchyme.	
UBERON:0003102	surface structure	biolink:AnatomicalEntity	mondo			surface region|surface feature|surface structures|anatomical surface feature	http://purl.obolibrary.org/obo/UBERON_0003102	Anatomical structure that overlaps the outer epithelial layer and is adjacent to the space surrounding the organism.	
HGNC:1573	KRIT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1573		
NCBITaxon:7165	Anopheles gambiae	organism taxon	mondo	PMID:16076241|GC_ID:1		Anopheles gambiae sensu stricto|African malaria mosquito|Anopheles gambiae S	http://purl.obolibrary.org/obo/NCBITaxon_7165		
UBERON:0003103	compound organ	biolink:AnatomicalEntity	mondo			organ	http://purl.obolibrary.org/obo/UBERON_0003103	Anatomical structure that has as its parts two or more multi-tissue structures of at least two different types and which through specific morphogenetic processes forms a single distinct structural unit demarcated by bona fide boundaries from other distinct anatomical structures of different types.	
UBERON:0005764	acellular membrane	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005764	A acellular anatomical structure that is the bounding layer of a anatomical structure.	
UBERON:0003100	female organism	biolink:AnatomicalEntity	mondo			female human body|female	http://purl.obolibrary.org/obo/UBERON_0003100	Gonochoristic organism that can produce female gametes.	
NCBITaxon:7164	Anopheles <genus>	organism taxon	mondo	GC_ID:1		Anopheles	http://purl.obolibrary.org/obo/NCBITaxon_7164		
UBERON:0003101	male organism	biolink:AnatomicalEntity	mondo			male human body|male	http://purl.obolibrary.org/obo/UBERON_0003101	Gonochoristic organism that can produce male gametes.	
GO:0031226	intrinsic component of plasma membrane	biolink:OntologyClass	mondo			intrinsic to plasma membrane	http://purl.obolibrary.org/obo/GO_0031226	The component of the plasma membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane.	
GO:0070838		biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0070838		
GO:0043217	myelin maintenance	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0043217	The process of preserving the structure and function of mature myelin. This includes maintaining the compact structure of myelin necessary for its electrical insulating characteristics as well as the structure of non-compact regions such as Schmidt-Lantermann clefts and paranodal loops. This does not include processes responsible for maintaining the nodes of Ranvier, which are not part of the myelin sheath.	
GO:0031224	intrinsic component of membrane	biolink:OntologyClass	mondo			intrinsic to membrane	http://purl.obolibrary.org/obo/GO_0031224	The component of a membrane consisting of the gene products having some covalently attached portion, for example part of a peptide sequence or some other covalently attached group such as a GPI anchor, which spans or is embedded in one or both leaflets of the membrane.	
HGNC:18085	TMEM199	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18085		
HGNC:18083	TRPV4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18083		
HGNC:18084	TRPV3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18084		
GO:0006281	DNA repair	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0006281	The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway.	
GO:0006282	regulation of DNA repair	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0006282	Any process that modulates the frequency, rate or extent of DNA repair.	
GO:0043227	membrane-bounded organelle	biolink:OntologyClass	mondo			membrane-enclosed organelle	http://purl.obolibrary.org/obo/GO_0043227	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.	
GO:0043226	organelle	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0043226	Organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, and prokaryotic structures such as anammoxosomes and pirellulosomes. Excludes the plasma membrane.	
GO:0043229	intracellular organelle	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0043229	Organized structure of distinctive morphology and function, occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane.	
GO:0043228	non-membrane-bounded organelle	biolink:OntologyClass	mondo			non-membrane-enclosed organelle	http://purl.obolibrary.org/obo/GO_0043228	Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane. Includes ribosomes, the cytoskeleton and chromosomes.	
NCBITaxon:236781	Tineinae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_236781		
HGNC:18053	PKD1L1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18053		
GO:0043234		biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0043234		
NCBITaxon:474019	Sarcoptinae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_474019		
GO:0043233	organelle lumen	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0043233	The internal volume enclosed by the membranes of a particular organelle; includes the volume enclosed by a single organelle membrane, e.g. endoplasmic reticulum lumen, or the volume enclosed by the innermost of the two lipid bilayers of an organelle envelope, e.g. nuclear lumen.	
GO:0043235	receptor complex	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0043235	Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.	
GO:0045893	positive regulation of transcription, DNA-templated	biolink:OntologyClass	mondo			upregulation of transcription, DNA-dependent|stimulation of gene-specific transcription|up regulation of gene-specific transcription|positive regulation of cellular transcription, DNA-dependent|positive regulation of gene-specific transcription|positive regulation of transcription, DNA-dependent|stimulation of transcription, DNA-dependent|up regulation of transcription, DNA-dependent|upregulation of gene-specific transcription|activation of gene-specific transcription|activation of transcription, DNA-dependent|up-regulation of transcription, DNA-dependent|transcription activator activity|up-regulation of gene-specific transcription	http://purl.obolibrary.org/obo/GO_0045893	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.	
GO:0043230	extracellular organelle	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0043230	Organized structure of distinctive morphology and function, occurring outside the cell. Includes, for example, extracellular membrane vesicles (EMVs) and the cellulosomes of anaerobic bacteria and fungi.	
GO:0043232	intracellular non-membrane-bounded organelle	biolink:OntologyClass	mondo			intracellular non-membrane-enclosed organelle	http://purl.obolibrary.org/obo/GO_0043232	Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane and occurring within the cell. Includes ribosomes, the cytoskeleton and chromosomes.	
GO:0045892	negative regulation of transcription, DNA-templated	biolink:OntologyClass	mondo			inhibition of gene-specific transcription|negative regulation of cellular transcription, DNA-dependent|negative regulation of gene-specific transcription|down-regulation of gene-specific transcription|downregulation of transcription, DNA-dependent|down regulation of gene-specific transcription|transcription repressor activity|down regulation of transcription, DNA-dependent|downregulation of gene-specific transcription|inhibition of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|down-regulation of transcription, DNA-dependent	http://purl.obolibrary.org/obo/GO_0045892	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.	
GO:0043231	intracellular membrane-bounded organelle	biolink:OntologyClass	mondo			intracellular membrane-enclosed organelle	http://purl.obolibrary.org/obo/GO_0043231	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.	
GO:0070859	positive regulation of bile acid biosynthetic process	biolink:OntologyClass	mondo			upregulation of bile acid biosynthetic process|positive regulation of bile acid anabolism|positive regulation of bile acid biosynthesis|up regulation of bile acid biosynthetic process|positive regulation of bile acid synthesis|stimulation of bile acid biosynthetic process|up-regulation of bile acid biosynthetic process|positive regulation of bile acid formation|activation of bile acid biosynthetic process	http://purl.obolibrary.org/obo/GO_0070859	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of bile acids.	
GO:0070857	regulation of bile acid biosynthetic process	biolink:OntologyClass	mondo			regulation of bile acid synthesis|regulation of bile acid formation|regulation of bile acid biosynthesis|regulation of bile acid anabolism	http://purl.obolibrary.org/obo/GO_0070857	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of bile acids.	
HGNC:33699	KHDC3L	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/33699		
GO:0070858	negative regulation of bile acid biosynthetic process	biolink:OntologyClass	mondo			inhibition of bile acid biosynthetic process|down-regulation of bile acid biosynthetic process|negative regulation of bile acid biosynthesis|negative regulation of bile acid anabolism|downregulation of bile acid biosynthetic process|negative regulation of bile acid synthesis|down regulation of bile acid biosynthetic process|negative regulation of bile acid formation	http://purl.obolibrary.org/obo/GO_0070858	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of bile acids.	
HGNC:18062	GPT2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18062		
GO:0006259	DNA metabolic process	biolink:OntologyClass	mondo			cellular DNA metabolism|DNA metabolism	http://purl.obolibrary.org/obo/GO_0006259	Any cellular metabolic process involving deoxyribonucleic acid. This is one of the two main types of nucleic acid, consisting of a long, unbranched macromolecule formed from one, or more commonly, two, strands of linked deoxyribonucleotides.	
HGNC:18060	ARX	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18060		
GO:0043244	regulation of protein-containing complex disassembly	biolink:OntologyClass	mondo			regulation of protein complex disassembly	http://purl.obolibrary.org/obo/GO_0043244	Any process that modulates the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components.	
GO:0043243	positive regulation of protein-containing complex disassembly	biolink:OntologyClass	mondo			up regulation of protein complex disassembly|activation of protein complex disassembly|stimulation of protein complex disassembly|positive regulation of protein complex disassembly|upregulation of protein complex disassembly|up-regulation of protein complex disassembly	http://purl.obolibrary.org/obo/GO_0043243	Any process that activates or increases the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components.	
GO:0043242	negative regulation of protein-containing complex disassembly	biolink:OntologyClass	mondo			down-regulation of protein complex disassembly|down regulation of protein complex disassembly|negative regulation of protein complex disassembly|downregulation of protein complex disassembly|inhibition of protein complex disassembly	http://purl.obolibrary.org/obo/GO_0043242	Any process that stops, prevents, or reduces the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components.	
FOODON:03400352	international agency food product type	biolink:OntologyClass	mondo	http://www.langual.org/langual_thesaurus.asp?termid=A0352			http://purl.obolibrary.org/obo/FOODON_03400352	Renamed from *PRODUCT TYPE, CODEX ALIMENTARIUS* in LanguaL 2008.	
MONDO:0043361	May-Thurner syndrome	biolink:Disease	mondo	UMLS:C3165062|MESH:D062108|GARD:0012141|SCTID:448804008	gard_rare	Iliac vein compression syndrome|iliac vein compression syndrome|May-Thurner syndrome|Iliocaval compression syndromes|compression syndromes, Iliocaval|syndrome, May-Thurner|syndrome, Cockett|May Thurner syndrome|compression syndrome, Iliocaval|syndrome, Iliocaval compression|Iliocaval compression syndrome|syndromes, Iliocaval compression|Cockett syndrome	http://purl.obolibrary.org/obo/MONDO_0043361	A compression of ILIAC VEIN that results in a decreased flow in the vein and in the left LOWER EXTREMITY due to a vascular malformation. It may result in left leg EDEMA, pain, iliofemoral DEEP VENOUS THROMBOSIS and POSTTHROMBOTIC SYNDROME. Compression of the left common ILIAC VEIN by the right common ILIAC ARTERY against the underlying fifth LUMBAR VERTEBRA is the typical underlying malformation.	SNOMEDCT:448804008|MESH:D062108|UMLS:C3165062
HGNC:21686	RNASET2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21686		
GO:0033844	galactose-6-sulfurylase activity	biolink:OntologyClass	mondo			galactose 6-sulfatase activity|galactose-6-sulfatase activity|D-galactose-6-sulfate:alkyltransferase (cyclizing) activity|porphyran sulfatase activity	http://purl.obolibrary.org/obo/GO_0033844	Catalysis of the elimination of sulfate from the D-galactose 6-sulfate residues of porphyran, producing 3,6-anhydrogalactose residues.	
GO:0043255	regulation of carbohydrate biosynthetic process	biolink:OntologyClass	mondo			regulation of carbohydrate anabolism|regulation of carbohydrate synthesis|regulation of carbohydrate biosynthesis|regulation of carbohydrate formation	http://purl.obolibrary.org/obo/GO_0043255	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of carbohydrates.	
GO:0043254	regulation of protein-containing complex assembly	biolink:OntologyClass	mondo			regulation of protein complex assembly	http://purl.obolibrary.org/obo/GO_0043254	Any process that modulates the frequency, rate or extent of protein complex assembly.	
MONDO:0043364	eosinophil peroxidase deficiency	biolink:Disease	mondo	SCTID:711160007|UMLS:C1850000|MESH:C564893|GARD:0012361|OMIM:261500	gard_rare	presentey anomaly|eosinophil peroxidase deficiency; EPXD|EPXD|eosinophil peroxidase deficiency, partial|peroxidase and phospholipid deficiency in eosinophils|Presentey anomaly|eosinophil peroxidase deficiency, Partial|eosinophil peroxidase deficiency	http://purl.obolibrary.org/obo/MONDO_0043364		http://identifiers.org/omim/261500|SNOMEDCT:711160007|MESH:C564893|UMLS:C1850000
GO:0070875	positive regulation of glycogen metabolic process	biolink:OntologyClass	mondo			positive regulation of glycogen metabolism	http://purl.obolibrary.org/obo/GO_0070875	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving glycogen.	
GO:0070873	regulation of glycogen metabolic process	biolink:OntologyClass	mondo			regulation of glycogen metabolism	http://purl.obolibrary.org/obo/GO_0070873	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving glycogen.	
GO:0070874	negative regulation of glycogen metabolic process	biolink:OntologyClass	mondo			negative regulation of glycogen metabolism	http://purl.obolibrary.org/obo/GO_0070874	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving glycogen.	
MONDO:0031386	cardioacrofacial dysplasia	biolink:Disease	mondo	OMIMPS:619142			http://purl.obolibrary.org/obo/MONDO_0031386		
MONDO:0043370	secondary adrenal insufficiency	biolink:Disease	mondo	NCIT:C62602|GARD:0012735|UMLS:C0948387|UMLS:C0271738|SCTID:16685009	gard_rare	central adrenal insufficiency|secondary adrenal insufficiency|secondary hypocortisolism|central Hypoadrenalism|secondary adrenocortical insufficiency|hypocortisolism secondary to another disorder	http://purl.obolibrary.org/obo/MONDO_0043370	A hormonal disorder that occurs when lack of corticotropin-releasing hormone (CRH) secretion from the hypothalamus or adrenocorticotropic hormone (ACTH) secretion from the pituitary is responsible for hypofunction of the adrenal cortex.	NCIT:C62602|UMLS:C0948387|SNOMEDCT:16685009|UMLS:C0271738
HGNC:21694	POU6F2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21694		
HGNC:21699	CERKL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21699		
HGNC:21698	RNF216	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21698		
HGNC:18040	ARID1B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18040		
MONDO:0043377	juvenile spondyloarthropathy	biolink:Disease	mondo	UMLS:C0409676|GARD:0012939|SCTID:239806000|NCIT:C114347	gard_rare	JSpA|juvenile spondyloarthropathy|juvenile Spondyloarthritis	http://purl.obolibrary.org/obo/MONDO_0043377	A group of chronic, inflammatory childhood diseases characterized by arthritis and enthesitis. This disorder can affect the axial skeleton in late childhood or young adulthood.	NCIT:C114347|UMLS:C0409676|SNOMEDCT:239806000
GO:0043269	regulation of ion transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0043269	Any process that modulates the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
MONDO:0043373	sudden sensorineural hearing loss	biolink:Disease	mondo	MESH:D003639|GARD:0012927|UMLS:C4275242|SCTID:715239002|Orphanet:90059	gard_rare	sudden hearing loss|deafness, sudden|sudden deafness|sudden sensorineural hearing loss|acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma	http://purl.obolibrary.org/obo/MONDO_0043373	Sensorineural hearing loss which develops suddenly over a period of hours or a few days. It varies in severity from mild to total deafness. Sudden deafness can be due to head trauma, vascular diseases, infections, or can appear without obvious cause or warning.	UMLS:C4275242|MESH:D003639|ORPHA:90059|SNOMEDCT:715239002
GO:0018215	protein phosphopantetheinylation	biolink:OntologyClass	mondo			protein amino acid phosphopantetheinylation	http://purl.obolibrary.org/obo/GO_0018215	The modification of a protein amino acid by phosphopantetheinylation.	
GO:0043270	positive regulation of ion transport	biolink:OntologyClass	mondo			up regulation of ion transport|activation of ion transport|stimulation of ion transport|upregulation of ion transport|up-regulation of ion transport	http://purl.obolibrary.org/obo/GO_0043270	Any process that activates or increases the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
UBERON:0005808	bone tissue of long bone	biolink:AnatomicalEntity	mondo			osseous tissue of long bone	http://purl.obolibrary.org/obo/UBERON_0005808	A bone tissue that is part of a long bone.	
GO:0043271	negative regulation of ion transport	biolink:OntologyClass	mondo			down-regulation of ion transport|down regulation of ion transport|downregulation of ion transport|inhibition of ion transport	http://purl.obolibrary.org/obo/GO_0043271	Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
UBERON:0005806	portal system	biolink:AnatomicalEntity	mondo			portal venous system	http://purl.obolibrary.org/obo/UBERON_0005806	In the circulatory system of animals, a portal venous system occurs when a capillary bed drains into another capillary bed through veins, without first going through the heart. Both capillary beds and the blood vessels that connect them are considered part of the portal venous system. They are relatively uncommon as the majority of capillary beds drain into veins which then drain into the heart, not into another capillary bed. Portal venous systems are considered venous because the blood vessels that join the two capillary beds are either veins or venules. Examples of such systems include the hepatic portal system and the hypophyseal portal system. Unqualified, 'portal venous system' often refers to the hepatic portal system. For this reason, 'portal vein' most commonly refers to the hepatic portal vein[WP].	
GO:0006206	pyrimidine nucleobase metabolic process	biolink:OntologyClass	mondo			pyrimidine metabolic process|pyrimidine base metabolism|pyrimidine metabolism|pyrimidine base metabolic process	http://purl.obolibrary.org/obo/GO_0006206	The chemical reactions and pathways involving pyrimidine nucleobases, 1,3-diazine, organic nitrogenous bases.	
UBERON:0005805	dorsal aorta	biolink:AnatomicalEntity	mondo			aorta dorsalis|DA|aortae dorsales|dorsal aortic root|dorsal aortæ|dorsal aortae|dorsal aorta root	http://purl.obolibrary.org/obo/UBERON_0005805	The dorsal aorta is a blood vessel in a single-pass circulatory system that carries oxygenated blood from the gills to the rest of the body. In a single-pass circulatory system blood passes once through the heart to supply the body once.	
UBERON:0005813	tubercle	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005813	A round nodule, small eminence, or warty outgrowth found on bones, skin, or within the lungs in tuberculosis. They are also found on the leading edge of Humpback Whale's flippers, improving fluid flow over the flipper's surface[WP].	
FOODON:03400306	nut or seed product (us cfr)	biolink:OntologyClass	mondo	http://www.langual.org/langual_thesaurus.asp?termid=A0306			http://purl.obolibrary.org/obo/FOODON_03400306		
HGNC:18021	TMC6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18021		
HGNC:21679	RSPO1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21679		
GO:0070887	cellular response to chemical stimulus	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0070887	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus.	
UBERON:0005800	section of aorta	biolink:AnatomicalEntity	mondo			segment of aorta|aortic section|portion of aorta|aortic segment	http://purl.obolibrary.org/obo/UBERON_0005800	Any portion of the aorta including the ascending and descending aorta, and aortic arch or a portion of the aortic orifice of the left ventricle.	
HGNC:18025	COA6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18025		
HGNC:21642	VARS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21642		
MONDO:0018361	neonatal scleroderma	biolink:Disease	mondo	ICD10:P83.8|Orphanet:398127	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018361		ORPHA:398127
MONDO:0018360	neonatal lupus erythematosus	biolink:Disease	mondo	MESH:C536397|GARD:0009563|EFO:0004537|UMLS:C0409979|NCIT:C99236|Orphanet:398124|SCTID:95609003|ICD10:M32.8	ordo_disease	neonatal lupus|congenital lupus|neonatal lupus syndrome|neonatal systemic lupus erythematosus|congenital lupus erythematosus|neonatal SLE	http://purl.obolibrary.org/obo/MONDO_0018360	A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis.	UMLS:C0409979|MESH:C536397|SNOMEDCT:95609003|ORPHA:398124|NCIT:C99236
HGNC:21641	TSPAN12	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21641		
HGNC:21645	CHCHD2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21645		
MONDO:0006378	pleural epithelioid mesothelioma	biolink:Disease	mondo	EFO:1000484|UMLS:C1709574|NCIT:C45662		pleura malignant epithelioid mesothelioma|pleural epithelioid mesothelioma|malignant epithelioid mesothelioma of pleura	http://purl.obolibrary.org/obo/MONDO_0006378	Malignant mesothelioma that arises from the pleura and is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns.	NCIT:C45662|UMLS:C1709574
MONDO:0006379	obsolete pleural mesothelioma (disease)	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006379		
MONDO:0006376	obsolete plantar fibromatosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006376	A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern.	
MONDO:0006377	pleural biphasic mesothelioma	biolink:Disease	mondo	EFO:1000483|NCIT:C45665|UMLS:C1709570		pleural biphasic mesothelioma	http://purl.obolibrary.org/obo/MONDO_0006377	Malignant mesothelioma that arises from the pleura. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor.	NCIT:C45665|UMLS:C1709570
MONDO:0006374	placental choriocarcinoma	biolink:Disease	mondo	DOID:2024|SCTID:448401007|NCIT:C8893|UMLS:C0855173|EFO:1000479		placenta choriocarcinoma (disease)|choriocarcinoma of the placenta|choriocarcinoma of placenta|placental choriocarcinoma|placenta choriocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006374	Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur.	DOID:2024|NCIT:C8893|UMLS:C0855173|SNOMEDCT:448401007
MONDO:0006375	placental hemangioma	biolink:Disease	mondo	EFO:1000480|NCIT:C4868|DOID:277|ICD9:219.8|UMLS:C0677608|SCTID:237268002		Chorangioma|hemangioma of the placenta|angioma of the placenta|Chorangioma placentae|placental angioma|chorioangioma|Chorangioma of the placenta|placental hemangioma|placenta hemangioma|hemangioma of placenta|angioma of placenta|hemangioma of placenta	http://purl.obolibrary.org/obo/MONDO_0006375	A hemangioma arising from the fetal blood vessels in the placental villi.	NCIT:C4868|UMLS:C0677608|SNOMEDCT:237268002|DOID:277
MONDO:0006372	pituicytoma	biolink:Disease	mondo	UMLS:C2986550|ICD9:237.0|NCIT:C94524|Orphanet:251623|ONCOTREE:PTCY|EFO:1000477|SCTID:608817003|ICDO:9432/1|ICD10:C71.9	ordo_disease	PTCY|pituicytoma (WHO grade I)|posterior pituitary astrocytoma|pituicytoma	http://purl.obolibrary.org/obo/MONDO_0006372	An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido.	SNOMEDCT:608817003|UMLS:C2986550|ORPHA:251623|NCIT:C94524
MONDO:0043320	piriformis syndrome	biolink:Disease	mondo	NCIT:C85012|UMLS:C0458224|SCTID:129179000|GARD:0010026|MESH:D055958	gard_rare	pelvic outlet syndrome|syndrome, piriformis muscle|wallet sciatica|syndromes, piriformis muscle|piriformis syndrome|piriformis muscle syndrome|piriformis muscle syndromes|deep gluteal syndrome|Pseudosciatica|muscle syndromes, piriformis|syndromes, piriformis|syndrome, piriformis|muscle syndrome, piriformis|hip socket neuropathy|piriformis syndromes|pyriformis syndrome	http://purl.obolibrary.org/obo/MONDO_0043320	A condition referring to irritation or compression of the proximal sciatic nerve, secondary to contraction of the piriformis muscle. It results in pain in the hip or the back of the leg mimicking disk-related sciatica.	SNOMEDCT:129179000|UMLS:C0458224|MESH:D055958|NCIT:C85012
MONDO:0006373	pituitary gland adenoma	biolink:Disease	mondo	MedDRA:10035079|Orphanet:99408|ICDO:8272/0|NCIT:C3329|UMLS:C0032000|SCTID:254956000|DOID:3829|EFO:1000478|ICD10:D35.2|ONCOTREE:PTAD|OMIMPS:102200	ordo_group_of_disorders	adenoma of pituitary gland|pituitary gland adenoma|adenoma of the pituitary|adenoma of pituitary|PTAD|adenoma, anterior lobe pituitary gland, benign|pituitary adenoma|adenoma of the pituitary gland	http://purl.obolibrary.org/obo/MONDO_0006373	A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss.	DOID:3829|UMLS:C0032000|NCIT:C3329|SNOMEDCT:254956000|ORPHA:99408|MEDDRA:10035079
MONDO:0006370	obsolete pineoblastoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006370		
MONDO:0006371	obsolete pineocytoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006371		
MONDO:0043317	amyopathic dermatomyositis	biolink:Disease	mondo	SCTID:238935002|UMLS:C0406645|GARD:0009907|MESH:C538250	gard_rare	ADM|dermatomyositis sine myositis|amyopathic dermatomyositis	http://purl.obolibrary.org/obo/MONDO_0043317	Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typicalskin findingswithout muscle weakness.Some of the skinchanges that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair.While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included.Fatigue is reported in at least 50% of patients. Some cases have beenassociated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin.	MESH:C538250|UMLS:C0406645|SNOMEDCT:238935002
MONDO:0018367	obsolete clear cell adenocarcinoma of ovary	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018367		
HGNC:21637	SATB2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21637		
MONDO:0018366	obsolete mucinous adenocarcinoma of ovary	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018366		
MONDO:0018369	immature ovarian teratoma	biolink:Disease	mondo	UMLS:C0346182|SCTID:254871000|UMLS:CN205036|ONCOTREE:OIMT|NCIT:C8111|DOID:6331|Orphanet:398987|ICD10:C56	ordo_disease	malignant teratoma of ovary|immature germ cell teratoma of the ovary|immature germ cell teratoma of ovary|immature teratoma|ovarian malignant teratoma|ovarian germ cell immature teratoma|malignant teratoma of the ovary|malignant ovarian germ cell teratoma|ovarian immature germ cell teratoma|immature teratoma of the ovary|ovarian immature teratoma|immature teratoma of ovary|immature ovarian teratoma|ovary malignant teratoma|malignant ovarian teratoma|malignant germ cell teratoma of the ovary|malignant germ cell teratoma of ovary	http://purl.obolibrary.org/obo/MONDO_0018369	A malignant germ cell tumor arising from the ovary. It usually affects females in their first two decades of life. It contains variable amounts of immature embryonal tissues. Based on the amount of immature neuroepithelial component, immature teratomas are graded from 1 to 3. The stage and grade of the tumor and the grade of the metastatic tumor are the important factors that predict prognosis. The use of cisplatin-based combination chemotherapy has significantly improved the survival rates of the patients.	UMLS:CN205036|ORPHA:398987|SNOMEDCT:254871000|UMLS:C0346182|DOID:6331|NCIT:C8111
MONDO:0018368	primary peritoneal serous/papillary carcinoma	biolink:Disease	mondo	Orphanet:398980|ICD10:C48.8|UMLS:CN205035|UMLS:C1368918|ICD10:C48.2|ICD10:C48.1|NCIT:C7695|ICD10:C48.0|DOID:6228	ordo_disease	primary peritoneal serous papillary adenocarcinoma|primary serous papillary carcinoma of peritoneum|peritoneal serous papillary adenocarcinoma|PPSPC|primary peritoneal serous papillary carcinoma	http://purl.obolibrary.org/obo/MONDO_0018368		UMLS:C1368918|NCIT:C7695|UMLS:CN205035|ORPHA:398980|DOID:6228
MONDO:0018363	focal facial dermal dysplasia	biolink:Disease	mondo	Orphanet:398166|ICD10:Q82.8|OMIMPS:136500|DC:0000521	ordo_malformation_syndrome	FFDD	http://purl.obolibrary.org/obo/MONDO_0018363	Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies.	ORPHA:398166
MONDO:0018362	persistent idiopathic facial pain	biolink:Disease	mondo	ICD10:G50.1|COHD:137856|Orphanet:398147	ordo_disease	AFP|atypical facial pain|PIFP	http://purl.obolibrary.org/obo/MONDO_0018362		ORPHA:398147
MONDO:0018365	malignant non-epithelial tumor of ovary	biolink:Disease	mondo	UMLS:CN205032|Orphanet:398940	ordo_group_of_disorders	ovarian malignant non-epithelial tumor|ovarian non-epithelial cancer|non-epithelial cancer of ovary	http://purl.obolibrary.org/obo/MONDO_0018365		UMLS:CN205032|ORPHA:398940
MONDO:0018364	malignant epithelial tumor of ovary	biolink:Disease	mondo	MESH:C538090|DOID:2151|SCTID:254849005|NCIT:C40026|Orphanet:398934|GARD:0009362	ordo_group_of_disorders	ovarian stromal cancer|ovarian epithelial tumor, malignant|epithelial cancer of ovary|ovarian epithelial cancer|ovarian malignant epithelial tumor|malignant ovarian surface epithelial-stromal neoplasm|malignant ovarian epithelial tumor|malignant ovarian surface epithelial-stromal tumor	http://purl.obolibrary.org/obo/MONDO_0018364	An invasive malignant tumor that originates from the surface epithelium of the ovary. It is composed of malignant epithelial cells and stroma. Representative examples include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, clear cell adenocarcinoma, and malignant Brenner tumor.	DOID:2151|ORPHA:398934|NCIT:C40026|SNOMEDCT:254849005|MESH:C538090
MONDO:0018350	obsolete malignant tumor of penis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018350		
HGNC:21653	TOPORS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21653		
HGNC:21652	OSTM1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21652		
MONDO:0006389	prostate rhabdomyosarcoma	biolink:Disease	mondo	DOID:3252|UMLS:C1335518|EFO:1000498|NCIT:C5522		prostate gland rhabdomyosarcoma|rhabdomyosarcoma of prostate|prostate rhabdomyosarcoma|rhabdomyosarcoma (disease) of prostate gland|prostate gland rhabdomyosarcoma (disease)|rhabdomyosarcoma of the prostate	http://purl.obolibrary.org/obo/MONDO_0006389	A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate.	DOID:3252|NCIT:C5522|UMLS:C1335518
MONDO:0006387	primary pulmonary diffuse large B-cell lymphoma	biolink:Disease	mondo	UMLS:C1709666|EFO:1000495|NCIT:C45605		diffuse large B-cell lymphoma of lung|high grade MALT lymphoma of the lung|primary pulmonary diffuse large B-cell lymphoma|lung diffuse large B-cell lymphoma|pulmonary diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0006387	A diffuse large B-cell lymphoma that is localized to the lungs at the time of presentation. Signs and symptoms include cough, dyspnea, and hemoptysis.	NCIT:C45605|UMLS:C1709666
MONDO:0006388	prolactin-producing pituitary gland carcinoma	biolink:Disease	mondo	NCIT:C5962|EFO:1000497|UMLS:C1334614		malignant prolactin secreting tumor of the pituitary gland|malignant prolactin secreting tumor of pituitary gland|malignant prolactin producing tumor|malignant prolactin secreting tumor of the pituitary|malignant prolactin secreting tumor of pituitary|malignant prolactinoma of the pituitary gland|malignant prolactin producing pituitary neoplasm|malignant prolactinoma of pituitary gland|malignant prolactin secreting neoplasm of the pituitary gland|malignant prolactinoma of the pituitary|malignant prolactin producing pituitary gland neoplasm|malignant prolactin secreting neoplasm of pituitary gland|malignant prolactinoma of pituitary|malignant prolactin secreting pituitary gland tumor|malignant prolactin secreting neoplasm of the pituitary|malignant prolactinoma|malignant prolactin secreting neoplasm of pituitary|prolactin-producing pituitary gland carcinoma|malignant prolactin secreting pituitary tumor|PRL producing pituitary gland carcinoma|malignant prolactin secreting pituitary neoplasm|malignant prolactin producing neoplasm of the pituitary gland|malignant prolactin producing tumor of the pituitary gland|malignant prolactin producing tumor of pituitary gland|prolactin producing pituitary gland carcinoma|malignant pituitary prolactinoma|malignant prolactin producing neoplasm of pituitary gland|malignant prolactin secreting pituitary gland neoplasm|malignant prolactin producing pituitary gland tumor|malignant prolactin producing tumor of the pituitary|malignant prolactin producing neoplasm of the pituitary|malignant prolactin producing tumor of pituitary|malignant pituitary gland prolactinoma|malignant prolactin producing neoplasm of pituitary|malignant prolactin producing pituitary tumor	http://purl.obolibrary.org/obo/MONDO_0006388	A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin.	NCIT:C5962|UMLS:C1334614
MONDO:0006385	primary intraosseous squamous cell carcinoma	biolink:Disease	mondo	EFO:1000492|NCIT:C54295|UMLS:C1709663		PIOSCC	http://purl.obolibrary.org/obo/MONDO_0006385	A squamous cell carcinoma that arises centrally from the jaw. It derives from odontogenic epithelial remnants. It includes solid type squamous cell carcinoma, squamous cell carcinoma that arises from an odontogenic cyst, and squamous cell carcinoma that derives from a keratocystic odontogenic tumor.	NCIT:C54295|UMLS:C1709663
MONDO:0043330	Mirizzi syndrome	biolink:Disease	mondo	Orphanet:521219|EFO:1001860|MESH:D057792|GARD:0010177|SCTID:4283007|UMLS:C0267878	gard_rare|ordo_clinical_syndrome	syndrome, Mirizzi's|Mirizzi's syndrome|hepatic duct dystonia syndrome|mirizzi's syndrome|Mirizzis syndrome|Mirizzi syndrome|syndrome, Mirizzi	http://purl.obolibrary.org/obo/MONDO_0043330	Complication of cholelithiasis characterized by obstructive jaundice; abdominal pain, and fever.	MESH:D057792|UMLS:C0267878|SNOMEDCT:4283007|ORPHA:521219
MONDO:0006386	primary peritoneal serous adenocarcinoma	biolink:Disease	mondo	UMLS:C1514429|NCIT:C40023|EFO:1000494		primary peritoneal serous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006386	A rare, serous adenocarcinoma that diffusely involves the pelvic peritoneum seen predominantly in elderly postmenopausal women. Exclusion of serous carcinoma arising from the ovary and fimbrial end of fallopian tube is required to diagnose the above entity.	NCIT:C40023|UMLS:C1514429
MONDO:0006383	primary cutaneous diffuse large B-cell lymphoma, Leg type	biolink:Disease	mondo	EFO:1000490|UMLS:C1709656|ICD10:C83.3|NCIT:C45194|Orphanet:178544|ICDO:9680/3	ordo_disease	primary cutaneous diffuse large B-cell lymphoma, Leg type|PCDLBCL,LT	http://purl.obolibrary.org/obo/MONDO_0006383	An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required.	UMLS:C1709656|ORPHA:178544|NCIT:C45194
MONDO:0006384	obsolete primary effusion lymphoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006384		
GO:0045806	negative regulation of endocytosis	biolink:OntologyClass	mondo			downregulation of endocytosis|inhibition of endocytosis|down-regulation of endocytosis|down regulation of endocytosis	http://purl.obolibrary.org/obo/GO_0045806	Any process that stops, prevents, or reduces the frequency, rate or extent of endocytosis.	
MONDO:0006381	plexiform ameloblastoma	biolink:Disease	mondo	NCIT:C39753|EFO:1000487|UMLS:C0457529			http://purl.obolibrary.org/obo/MONDO_0006381	A histologic variant of solid/multicystic ameloblastoma characterized by the presence of basal cells forming anastomosing strands and cords in a delicate stroma.	NCIT:C39753|UMLS:C0457529
MONDO:0006382	poorly differentiated thyroid gland carcinoma	biolink:Disease	mondo	ICDO:8337/3|NCIT:C6040|EFO:1000489|ONCOTREE:THPD|UMLS:C1266050		insular carcinoma|poorly differentiated carcinoma of the thyroid gland|poorly differentiated carcinoma of thyroid gland|poorly differentiated thyroid gland carcinoma|thyroid gland poorly differentiated carcinoma|poorly differentiated thyroid cancer|poorly differentiated thyroid carcinoma|poorly differentiated thyroid gland cancer	http://purl.obolibrary.org/obo/MONDO_0006382	An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004)	UMLS:C1266050|NCIT:C6040
GO:0045807	positive regulation of endocytosis	biolink:OntologyClass	mondo			up-regulation of endocytosis|up regulation of endocytosis|activation of endocytosis|stimulation of endocytosis|upregulation of endocytosis	http://purl.obolibrary.org/obo/GO_0045807	Any process that activates or increases the frequency, rate or extent of endocytosis.	
MONDO:0006380	pleural sarcomatoid mesothelioma	biolink:Disease	mondo	NCIT:C45663|EFO:1000486|UMLS:C1709578		pleura sarcomatoid mesothelioma|pleural sarcomatoid mesothelioma|sarcomatoid mesothelioma of pleura	http://purl.obolibrary.org/obo/MONDO_0006380	Malignant mesothelioma that arises from the pleura and is characterized by the presence of spindle-shaped cells forming fascicles, or that are distributed haphazardly resembling a sarcoma.	UMLS:C1709578|NCIT:C45663
MONDO:0043327	cerebrospinal fluid leak	biolink:Disease	mondo	MESH:D065634|SCTID:230744007|GARD:0010166	gard_rare	Leaks, cerebrospinal fluid|fluid leakage, cerebrospinal|cerebrospinal fluid Drainages|fluid Drainages, cerebrospinal|cerebrospinal fluid leakage|cerebrospinal fluid leakage, post-traumatic|csf - cerebrospinal fluid leak|cerebrospinal fluid leakage, spontaneous|spinal CSF leak|leak, cerebrospinal fluid|fluid leak, cerebrospinal|fluid Leaks, cerebrospinal|cerebrospinal fluid leakage, post traumatic|CSF leak|cerebrospinal fluid leak, spontaneous|cerebrospinal fluid leakage, traumatic|cerebrospinal fluid Leakages|Leakages, cerebrospinal fluid|fluid drainage, cerebrospinal|drainage, cerebrospinal fluid|cerebrospinal fluid drainage|fluid Leakages, cerebrospinal|cerebrospinal fluid drainage, post-traumatic|CSF rhinorrhea|spinal cerebrospinal fluid leak|spinal cerebrospinal fluid leak, post-traumatic|spinal cerebrospinal fluid leak, spontaneous|cerebrospinal fluid leak|cerebrospinal fluid drainage, spontaneous|cerebrospinal fluid drainage, post traumatic|cerebrospinal fluid leak, traumatic|cerebrospinal fluid leak, post-traumatic|cerebrospinal fluid Leaks|leakage, cerebrospinal fluid|Drainages, cerebrospinal fluid|spinal cerebrospinal fluid leak, post traumatic|spinal cerebrospinal fluid leak, traumatic|CSF otorrhea|cerebrospinal fluid leak, post traumatic|cerebrospinal fluid drainage, traumatic	http://purl.obolibrary.org/obo/MONDO_0043327	Discharge of cerebrospinal fluid through a hole through the skull bone most commonly draining from the nose (CEREBROSPINAL FLUID RHINORRHEA) or the ear (CEREBROSPINAL FLUID OTORRHEA).	SNOMEDCT:230744007|MESH:D065634
MONDO:0018359	neonatal dermatomyositis	biolink:Disease	mondo	Orphanet:398117|ICD10:M33.1	ordo_disease	neonatal DM	http://purl.obolibrary.org/obo/MONDO_0018359		ORPHA:398117
MONDO:0018356	secondary neonatal autoimmune disease	biolink:Disease	mondo	UMLS:CN226097|Orphanet:398091	ordo_group_of_disorders	Transplacentally acquired neonatal autoimmune disease	http://purl.obolibrary.org/obo/MONDO_0018356		ORPHA:398091|UMLS:CN226097
MONDO:0018355	Prader-Willi-like syndrome due to point mutation	biolink:Disease	mondo	Orphanet:398079|ICD10:Q87.1|UMLS:CN226095	ordo_clinical_subtype	PWS-like due to point mutation|PWS-like due to a point mutation|Prader-Willi-like syndrome due to a point mutation	http://purl.obolibrary.org/obo/MONDO_0018355		ORPHA:398079|UMLS:CN226095
MONDO:0018358	neonatal autoimmune hemolytic anemia	biolink:Disease	mondo	Orphanet:398109|ICD10:D59.1	ordo_disease	neonatal AHA|neonatal AIHA	http://purl.obolibrary.org/obo/MONDO_0018358		ORPHA:398109
MONDO:0018357	neonatal antiphospholipid syndrome	biolink:Disease	mondo	ICD10:D68.6|UMLS:CN226098|Orphanet:398097	ordo_disease	neonatal antiphospholipid antibody syndrome|neonatal Hughes syndrome	http://purl.obolibrary.org/obo/MONDO_0018357		ORPHA:398097|UMLS:CN226098
MONDO:0018352	squamous cell carcinoma of penis	biolink:Disease	mondo	ICD10:C60.9|ICD10:C60.8|Orphanet:398058|SCTID:403468003|ONCOTREE:PSCC|UMLS:C0238348|ICD10:C60.2|ICD10:C60.1|ICD10:C60.0|DOID:5518|NCIT:C7729	ordo_disease	epidermoid carcinoma of the penis|epidermoid carcinoma of penis|penile squamous car.(epidermoid)|epidermoid cell carcinoma of the penis|penile epidermoid cell carcinoma|PSCC|squamous cell carcinoma of penis|penile epidermoid carcinoma|penile squamous cell carcinoma|squamous cell carcinoma of the penis|penile squamous carcinoma (epidermoid)|penis squamous cell carcinoma|penile squamous cell cancer|epidermoid cell carcinoma of penis	http://purl.obolibrary.org/obo/MONDO_0018352	A squamous cell carcinoma arising from the penis. It occurs chiefly in the squamous epithelium of the glans, coronal sulcus, and foreskin. Etiologic factors include phimosis, lichen sclerosus, smoking, ultraviolet irradiation, history of warts or condylomas, and lack of circumcision. Human papilloma virus is present in a subset of penile squamous cell carcinomas. Patients may present with an exophytic or flat ulcerative mass in the glans or a large primary tumor with inguinal nodal and skin metastases. Morphologic variants include the basaloid carcinoma, warty (condylomatous) carcinoma, verrucous carcinoma, and sarcomatoid (spindle cell) carcinoma. (WHO, 2004)	NCIT:C7729|SNOMEDCT:403468003|UMLS:C0238348|DOID:5518|ORPHA:398058
MONDO:0018351	adenocarcinoma of penis	biolink:Disease	mondo	Orphanet:398053|ICD10:C60.9|ICD10:C60.8|ICD10:C60.2|ICD10:C60.1|ICD10:C60.0	ordo_disease	adenocarcinoma of the penis|penis adenocarcinoma|penile adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0018351	A adenocarcinoma that involves the penis.	ORPHA:398053
MONDO:0018354	Prader-Willi-like syndrome	biolink:Disease	mondo	ICD10:Q87.1|Orphanet:398073|UMLS:CN226094	ordo_disease	PWS-like	http://purl.obolibrary.org/obo/MONDO_0018354	Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) ocurring in the absence of 15q11-q13 genomic abnormalities.	ORPHA:398073|UMLS:CN226094
MONDO:0018353	refractory celiac disease	biolink:Disease	mondo	ICD10:K90.0|Orphanet:398063|EFO:0009266|UMLS:CN226092	ordo_disease	intractable celiac sprue|refractory sprue|type I refractory sprue|type II refractory sprue|refractory CD	http://purl.obolibrary.org/obo/MONDO_0018353	Refractory celiac disease (RCD) is a complex autoimmune disorder much like the more common celiac disease but, unlike celiac disease, it is resistant or unresponsive to at least 12 months of treatment with a strict gluten-free diet. Gliadin, a component of the wheat storage protein gluten, together with similar proteins in barley and rye, are the villains that trigger the immune reaction in celiac disease. The diagnosis of RCD is made by exclusion, especially of any other disorder that can affect the huge number of thread-like projections that line the interior of the intestine (intestinal villi), such as intestinal lymphoma, Crohn's disease, small intestinal bacterial overgrowth or hypogammaglobulinemia.	ORPHA:398063|UMLS:CN226092
MONDO:0021994	Berk-Tabatznik syndrome	biolink:Disease	mondo	GARD:0005109|UMLS:C2930899|MESH:C535432	gard_rare	kyphosis brachyphalangy optic atrophy|Berk Tabatznik syndrome|cleft nare, brachydactyly, short stature-dwarfism|congenital optic atrophy and brachytelephalangy|cleft nare, brachydactyly, short stature dwarfism|short stature, congenital optic atrophy, and hypoplasia of the cervical vertebral bodies and distal phalanges	http://purl.obolibrary.org/obo/MONDO_0021994		UMLS:C2930899|MESH:C535432
MONDO:0006358	parotid gland squamous cell carcinoma	biolink:Disease	mondo	EFO:1000463|NCIT:C5942|UMLS:C1335367		parotid squamous cell carcinoma|parotid gland squamous cell carcinoma|squamous cell carcinoma of the parotid gland|squamous cell carcinoma of parotid gland|squamous cell carcinoma of the parotid|squamous cell carcinoma of parotid	http://purl.obolibrary.org/obo/MONDO_0006358	An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain.	NCIT:C5942|UMLS:C1335367
MONDO:0006359	neoplasm with perivascular epithelioid cell differentiation	biolink:Disease	mondo	EFO:1000464|ONCOTREE:PECOMA|NCIT:C38150|MESH:D054973|DOID:2643|UMLS:C1300127		neoplasm with perivascular epithelioid cell differentiation|PEComa|perivascular epithelioid cell tumor|tumor with perivascular epithelioid cell differentiation	http://purl.obolibrary.org/obo/MONDO_0006359	A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis.	UMLS:C1300127|MESH:D054973|DOID:2643|NCIT:C38150
MONDO:0006356	parotid gland adenoid cystic carcinoma	biolink:Disease	mondo	SCTID:423615009|DOID:0050931|UMLS:C1335355|EFO:1000459|NCIT:C5937		parotid gland adenoid cystic carcinoma|parotid adenoid cystic carcinoma|adenoid cystic carcinoma of the parotid gland|adenoid cystic carcinoma of parotid gland|adenoid cystic carcinoma of the parotid|adenoid cystic carcinoma of parotid	http://purl.obolibrary.org/obo/MONDO_0006356	An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues.	DOID:0050931|UMLS:C1335355|NCIT:C5937|SNOMEDCT:423615009
MONDO:0006357	parotid gland carcinoma ex pleomorphic adenoma	biolink:Disease	mondo	EFO:1000461|NCIT:C5974|UMLS:C1335356|SCTID:425127006		parotid gland carcinoma ex pleomorphic adenoma|parotid carcinoma ex pleomorphic adenoma|carcinoma ex pleomorphic adenoma of the parotid gland|carcinoma ex pleomorphic adenoma of parotid gland|carcinoma ex pleomorphic adenoma of the parotid|carcinoma ex pleomorphic adenoma of parotid	http://purl.obolibrary.org/obo/MONDO_0006357	A carcinoma that arises from a pleomorphic adenoma in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.	SNOMEDCT:425127006|UMLS:C1335356|NCIT:C5974
MONDO:0006354	parathyroid hyperplasia (disease)	biolink:Disease	mondo	UMLS:C0271844|HP:0008208|NCIT:C3989|EFO:1000457|SCTID:9092004		hyperplasia of the parathyroid|parathyroid gland hyperplasia|hyperplasia of parathyroid|parathyroid hyperplasia	http://purl.obolibrary.org/obo/MONDO_0006354	A hyperplasia that involves the parathyroid gland.	UMLS:C0271844|SNOMEDCT:9092004|NCIT:C3989
CHEBI:83876	cationic sphingoid	biolink:ChemicalSubstance	mondo			cationic sphingoids|sphingoid cations|sphingoid cation	http://purl.obolibrary.org/obo/CHEBI_83876	An organic cation obtained by protonation of the amino function of any sphingoid	
MONDO:0006355	parotid gland acinic cell carcinoma	biolink:Disease	mondo	UMLS:C1335353|EFO:1000458|NCIT:C5933		parotid acinic cell carcinoma|parotid gland acinar cell carcinoma|acinic cell carcinoma of the parotid gland|acinic cell carcinoma of parotid gland|acinic cell carcinoma of the parotid|parotid gland acinic cell carcinoma|acinic cell carcinoma of parotid	http://purl.obolibrary.org/obo/MONDO_0006355	An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area.	UMLS:C1335353|NCIT:C5933
MONDO:0043346	progressive transformation of germinal centers	biolink:Disease	mondo	GARD:0010712|MESH:C548085|NCIT:C38408	gard_rare	progressive transformation of Germinal centers|PTGC	http://purl.obolibrary.org/obo/MONDO_0043346	Progressive transformation of germinal centers is a condition in which a lymph node becomes very enlarged (lymphadenopathy). Typically, only one lymph node is affected, though PTGC can involve multiple lymph nodes. Theneck is the most common location of affected lymph nodes, but PTGC may also affect lymph nodes in the groin and armpits. adults are more frequently affected than children, but children have a higher chance of developing PTGC multiple times (recurrence). PTGC is not considered a precancerous condition, though it has been associated with Hodgkin lymphoma.	MESH:C548085|NCIT:C38408
MONDO:0006352	paranasal sinus adenoid cystic carcinoma	biolink:Disease	mondo	UMLS:C1335337|NCIT:C6019|EFO:1000454		accessory sinus adenoid cystic carcinoma|paranasal sinus adenoid cystic carcinoma|adenoid cystic carcinoma of the paranasal sinus|adenoid cystic carcinoma of paranasal sinus|adenoid cystic carcinoma of the accessory sinus|adenoid cystic carcinoma of accessory sinus	http://purl.obolibrary.org/obo/MONDO_0006352	A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases.	NCIT:C6019|UMLS:C1335337
MONDO:0006353	paranasal sinus Schneiderian papilloma	biolink:Disease	mondo	NCIT:C6835|EFO:1000455|UMLS:C1335343		Schneiderian papilloma of the paranasal sinus|Schneiderian papilloma of paranasal sinus|accessory sinus Schneiderian papilloma|paranasal sinus Schneiderian papilloma|Schneiderian papilloma of the accessory sinus|Schneiderian papilloma of accessory sinus	http://purl.obolibrary.org/obo/MONDO_0006353	A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It is classified as inverted papilloma and oncocytic papilloma.	NCIT:C6835|UMLS:C1335343
MONDO:0043343	Chilaiditi syndrome	biolink:Disease	mondo	SCTID:14911005|MESH:D059269|GARD:0010685	gard_rare	syndrome, Chilaiditi|anomaly, Chilaiditi's|Chilaiditi anomaly|Chilaiditis anomaly|Chilaiditi's syndrome|syndrome, Chilaiditi's|subphrenic interposition syndrome|Chilaiditi's anomaly|Chilaiditis syndrome|anomaly, Chilaiditi|hepatodiaphragmatic colonic interposition|chilaiditi's syndrome	http://purl.obolibrary.org/obo/MONDO_0043343	Interposition of a portion of the colon (e.g., sigmoid colon) between the liver and the diaphragm. It is associated with abdominal pain, vomiting, constipation, anorexia and volvulus. Chilaiditi anomaly refers to asymptomatic interposition.	SNOMEDCT:14911005|MESH:D059269
MONDO:0006350	papillary transitional cell carcinoma	biolink:Disease	mondo	EFO:1000450|UMLS:C0334274|DOID:4012|ICDO:8130/3|NCIT:C4122		papillary transitional carcinoma|papillary transitional cell carcinoma (morphologic abnormality)|papillary transitional cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006350	A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis.	NCIT:C4122|UMLS:C0334274|DOID:4012
MONDO:0006351	parachordoma	biolink:Disease	mondo	EFO:1000452|ICDO:9373/1|ICDO:9373/0|UMLS:C1266175|NCIT:C6581|DOID:2647|SCTID:404086000		parachordoma	http://purl.obolibrary.org/obo/MONDO_0006351	A rare, usually benign myoepithelial tumor characterized by the presence of epithelioid, often vacuolated neoplastic cells. Most patients present with painless swelling in the subcutaneous or subfascial soft tissues of the extremities.	DOID:2647|NCIT:C6581|UMLS:C1266175|SNOMEDCT:404086000
MONDO:0018349	MAN1B1-CDG	biolink:Disease	mondo	Orphanet:397941|ICD10:E77.8|SCTID:733450008|UMLS:C4518783|GARD:0012417	ordo_disease|gard_rare	congenital disorder of glycosylation type II due to MAN1B1 deficiency|congenital disorder of glycosylation type 2 due to MAN1B1 deficiency|carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency|intellectual disability-truncal obesity syndrome	http://purl.obolibrary.org/obo/MONDO_0018349	(9q34.3).	SNOMEDCT:733450008|ORPHA:397941|UMLS:C4518783
MONDO:0018348	polyglucosan body myopathy type 1	biolink:Disease	mondo	ICD10:E74.0|Orphanet:397937	ordo_disease	PGBM1	http://purl.obolibrary.org/obo/MONDO_0018348		ORPHA:397937
NCBITaxon:114292	typhus group	organism taxon	mondo	GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_114292		
MONDO:0043339	lathyrism	biolink:Disease	mondo	EFO:1001776|MESH:D007842|SCTID:5724005|GARD:0010441	gard_rare	Lathyrus species poisoning|vetchling poisoning|lathyrism|Neurolathyrism	http://purl.obolibrary.org/obo/MONDO_0043339	A paralytic condition of the legs caused by ingestion of lathyrogens, especially beta-aminopropionitrile or beta-N-oxalyl amino-L-alanine, which are found in the seeds of plants of the genus lathyrus.	SNOMEDCT:5724005|MESH:D007842
MONDO:0018345	obsolete T+ B+ severe combined immunodeficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018345		
MONDO:0018344	periodic paralysis with transient compartment-like syndrome	biolink:Disease	mondo	UMLS:CN226077|ICD10:G72.3|Orphanet:397755	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018344		ORPHA:397755|UMLS:CN226077
MONDO:0018347	severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome	biolink:Disease	mondo	ICD10:Q87.8|Orphanet:397933|UMLS:CN226082	ordo_disease	severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome|IQSEC2-related syndromic intellectual disability	http://purl.obolibrary.org/obo/MONDO_0018347		ORPHA:397933|UMLS:CN226082
MONDO:0018346	ferro-cerebro-cutaneous syndrome	biolink:Disease	mondo	UMLS:CN226080|ICD10:G23.0|Orphanet:397922	ordo_disease	cerebro-cutaneous syndrome with iron overload	http://purl.obolibrary.org/obo/MONDO_0018346		ORPHA:397922|UMLS:CN226080
MONDO:0018341	3q27.3 microdeletion syndrome	biolink:Disease	mondo	Orphanet:397695|ICD10:Q93.5|UMLS:CN225942	ordo_disease	Del(3)(q27.3)	http://purl.obolibrary.org/obo/MONDO_0018341	3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.	UMLS:CN225942|ORPHA:397695
MONDO:0018340	hereditary isolated aplastic anemia	biolink:Disease	mondo	ICD10:D61.0|Orphanet:397692	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018340		ORPHA:397692
MONDO:0018343	periodic paralysis with later-onset distal motor neuropathy	biolink:Disease	mondo	Orphanet:397750|ICD10:G72.3	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018343		ORPHA:397750
MONDO:0018342	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	biolink:Disease	mondo	SCTID:733418003|UMLS:C4518774|Orphanet:397715|ICD10:Q04.3|UMLS:CN225944	ordo_malformation_syndrome	JBTS with JATD|Joubert syndrome with JATD	http://purl.obolibrary.org/obo/MONDO_0018342	Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes.	UMLS:CN225944|ORPHA:397715|SNOMEDCT:733418003|UMLS:C4518774
MONDO:0006369	pineal parenchymal tumor of intermediate differentiation	biolink:Disease	mondo	NCIT:C6967|SCTID:715904005|EFO:1000474|GARD:0010644|UMLS:C1367859|ONCOTREE:PPTID|DOID:5030		pineal parenchymal tumor of intermediate differentiation|pineal parenchymal tumor of intermediate differentiation (morphologic abnormality)|pineal parenchymal tumors of intermediate differentiation|PPTID|pineal parenchymal tumour of intermediate differentiation	http://purl.obolibrary.org/obo/MONDO_0006369	A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)	UMLS:C1367859|SNOMEDCT:715904005|NCIT:C6967|DOID:5030
MONDO:0006367	pharyngeal adenoid cystic carcinoma	biolink:Disease	mondo	NCIT:C5818|EFO:1000472|UMLS:C1335399		adenoid cystic carcinoma of the pharynx|adenoid cystic carcinoma of pharynx|pharyngeal adenoid cystic carcinoma|pharyngeal throat adenoid cystic cancer|pharynx adenoid cystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0006367	An adenoid cystic carcinoma that arises from the pharynx.	UMLS:C1335399|NCIT:C5818
GO:0045820	negative regulation of glycolytic process	biolink:OntologyClass	mondo			downregulation of glycolysis|down regulation of glycolysis|inhibition of glycolysis|down-regulation of glycolysis	http://purl.obolibrary.org/obo/GO_0045820	Any process that stops, prevents, or reduces the frequency, rate or extent of glycolysis.	
MONDO:0043355	collagenous gastritis	biolink:Disease	mondo	GARD:0010961|NCIT:C122082|SCTID:711499009|UMLS:C4040043	gard_rare	collagenous gastritis	http://purl.obolibrary.org/obo/MONDO_0043355	A rare type of gastritis characterized by gastric subepithelial collagen deposition and inflammatory infiltrates in the lamina propria. The pathogenesis of this disorder is unclear although an association with autoimmune disorders has been reported. It affects both children and adults. Children present with iron deficiency anemia and have a nodular stomach on gastroscopy. adults present with chronic watery diarrhea and may have an associated collagenous colitis.	SNOMEDCT:711499009|UMLS:C4040043|NCIT:C122082
GO:0045821	positive regulation of glycolytic process	biolink:OntologyClass	mondo			up regulation of glycolysis|stimulation of glycolysis|up-regulation of glycolysis|activation of glycolysis|upregulation of glycolysis	http://purl.obolibrary.org/obo/GO_0045821	Any process that activates or increases the frequency, rate or extent of glycolysis.	
MONDO:0006368	phosphaturic mesenchymal tumor	biolink:Disease	mondo	EFO:1000473|UMLS:C1831619|NCIT:C67237		phosphaturic mesenchymal tumor, mixed connective tissue variant|phosphaturic mesenchymal tumor|phosphaturic mesenchymal tumor, mixed connective tissue type	http://purl.obolibrary.org/obo/MONDO_0006368	An extremely rare, benign or malignant mesenchymal tumor arising from the soft tissues or bones. It is a distinctive tumor, which usually displays the following morphologic characteristics: low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of a paraneoplastic syndrome called osteogenic osteomalacia. This syndrome usually precedes the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia, normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances, skeletal deformity, height loss, and slow growth. The metabolic disturbances improve or completely disappear after the complete resection of the tumor.	UMLS:C1831619|NCIT:C67237
MONDO:0043358	engraftment syndrome	biolink:Disease	mondo	SCTID:426768001|GARD:0011909|UMLS:C0919746|NCIT:C63324	gard_rare	engraftment syndrome	http://purl.obolibrary.org/obo/MONDO_0043358	A toxicity of hematopoietic stem cell transplantation that manifests as fever, rash and pulmonary deterioration which becomes evident at marrow engraftment. It occurs unexpectedly and is occasionally fatal. It can occur after an autogeneic or an allogeneic hematopoietic cell transplantation.	UMLS:C0919746|NCIT:C63324|SNOMEDCT:426768001
MONDO:0006365	Peutz-Jeghers polyp	biolink:Disease	mondo	EFO:1000470|NCIT:C4733		Peutz-Jeghers polyp|Peutz Jeghers polyp	http://purl.obolibrary.org/obo/MONDO_0006365	A hamartomatous polyp that occurs in the stomach, small and large intestines, and rarely within the esophagus, nasopharynx and the urinary tract. The Peutz-Jeghers polyps are grossly lobulated and dark. Microscopically, they have a central core of smooth muscle covered by mucosa. The smooth muscle shows tree-like branching. The question of whether or not the Peutz-Jeghers polyp is precancerous is a matter of controversy. The loss of heterozygosity on chromosome 19p (where the responsible gene LKB1 is located) suggests that the increased risk of malignancy may be due to malignant transformation from hamartoma to adenocarcinoma. --2002	NCIT:C4733
MONDO:0006366	Peutz-Jeghers polyp of the stomach	biolink:Disease	mondo	EFO:1000471|NCIT:C36205|UMLS:C1335398		Gastric Peutz-Jeghers polyp	http://purl.obolibrary.org/obo/MONDO_0006366	A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium.	UMLS:C1335398|NCIT:C36205
MONDO:0043352	fournier gangrene	biolink:Disease	mondo	SCTID:398318005|GARD:0010912|UMLS:C0238419|MESH:D018934	gard_rare	fournier's gangrene|gangrene, Fournier|fournier gangrene|gangrene, Fournier's|Fournier disease|Fournier's gangrene|Fourniers gangrene|Fournier's disease|Fourniers disease	http://purl.obolibrary.org/obo/MONDO_0043352	An acute necrotic infection of the SCROTUM; PENIS; or PERINEUM. It is characterized by scrotum pain and redness with rapid progression to gangrene and sloughing of tissue. Fournier gangrene is usually secondary to perirectal or periurethral infections associated with local trauma, operative procedures, or urinary tract disease.	SNOMEDCT:398318005|MESH:D018934|UMLS:C0238419
MONDO:0006363	peritoneal multicystic mesothelioma	biolink:Disease	mondo	NCIT:C6536|SCTID:716650003|ICD10:C45.1|Orphanet:168816|EFO:1000468|GARD:0010777|UMLS:C1334818	ordo_disease	benign cystic peritoneal mesothelioma|peritoneal multicystic mesothelioma|peritoneal cystic mesothelioma|multilocular peritoneal inclusion cyst|multilocular peritoneal cysts|BMPM|multilocular peritoneal inclusion cysts|multicystic mesothelioma of peritoneum|multicystic mesothelioma|benign multicystic peritoneal mesothelioma|multicystic mesothelioma of the peritoneum	http://purl.obolibrary.org/obo/MONDO_0006363	A cystic mesothelioma that arises from the peritoneum and usually affects young to middle aged females. Grossly, it presents as a large multiloculated tumor mass, usually in the pelvic peritoneum. Histologically it is characterized by the presence of multiple cysts that are lined by one or more layers of mesothelial cells that do not show atypia. Patients usually present with abdominal or pelvic mass and pain. The clinical course is indolent. The tumor may recur, but transformation to diffuse malignant mesothelioma is rare.	SNOMEDCT:716650003|NCIT:C6536|ORPHA:168816|UMLS:C1334818
MONDO:0006364	peritoneal well differentiated papillary mesothelioma	biolink:Disease	mondo	NCIT:C45661|UMLS:C1709507|EFO:1000469		peritoneal WDPM|peritoneal well differentiated papillary mesothelioma	http://purl.obolibrary.org/obo/MONDO_0006364	A localized or multifocal mesothelioma arising from the peritoneum. It predominantly occurs in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to diffuse malignant mesothelioma.	NCIT:C45661|UMLS:C1709507
MONDO:0006361	penile fibromatosis	biolink:Disease	mondo	EFO:1000466|NCIT:C3316		penile fibromatosis|Peyronie's disease|penile induration|penis fibromatosis|Peyronie's fibromatosis	http://purl.obolibrary.org/obo/MONDO_0006361	Fibromatosis arising from the soft tissues of the penis. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It causes the penis to bend when it becomes erect.	NCIT:C3316
MONDO:0006362	peritoneal mesothelioma (disease)	biolink:Disease	mondo	ICD10:C45.1|NCIT:C7633|HP:0100003|ONCOTREE:PEMESO|EFO:1000467|SCTID:109853004		peritoneal mesothelioma|peritoneum mesothelioma|mesothelioma of peritoneum|mesothelioma of the peritoneum	http://purl.obolibrary.org/obo/MONDO_0006362	A benign or malignant mesothelial neoplasm that arises from the peritoneum.	SNOMEDCT:109853004|NCIT:C7633
GO:0045828	positive regulation of isoprenoid metabolic process	biolink:OntologyClass	mondo			upregulation of isoprenoid metabolic process|up regulation of isoprenoid metabolic process|positive regulation of isoprenoid metabolism|stimulation of isoprenoid metabolic process|up-regulation of isoprenoid metabolic process|activation of isoprenoid metabolic process	http://purl.obolibrary.org/obo/GO_0045828	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving isoprenoid.	
MONDO:0006360	penile carcinoma	biolink:Disease	mondo	DOID:3449|NCIT:C9061|GARD:0009366|SCTID:372106005|EFO:1000465		penile cancer, NOS|penis carcinoma|cancer penis|penile cancer|carcinoma of the penis|penile carcinoma|cancer of the penis|carcinoma of penis|cancer of penis|penile cancer, adult	http://purl.obolibrary.org/obo/MONDO_0006360	A carcinoma that arises from epithelial cells of the penis	DOID:3449|NCIT:C9061|SNOMEDCT:372106005
GO:0045829	negative regulation of isotype switching	biolink:OntologyClass	mondo			negative regulation of isotype switch recombination|down-regulation of isotype switching|down regulation of isotype switching|inhibition of isotype switching|downregulation of isotype switching|negative regulation of class switching|negative regulation of class switch recombination	http://purl.obolibrary.org/obo/GO_0045829	Any process that stops, prevents, or reduces the frequency, rate or extent of isotype switching.	
GO:0045827	negative regulation of isoprenoid metabolic process	biolink:OntologyClass	mondo			down regulation of isoprenoid metabolic process|inhibition of isoprenoid metabolic process|down-regulation of isoprenoid metabolic process|downregulation of isoprenoid metabolic process|negative regulation of isoprenoid metabolism	http://purl.obolibrary.org/obo/GO_0045827	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving isoprenoid.	
MONDO:0018338	activated PI3K-delta syndrome	biolink:Disease	mondo	GARD:0011983|UMLS:C3714976|Orphanet:397596|ICD9:279.8|ICD10:D81.8|SCTID:711480000	ordo_disease	senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation|APDS	http://purl.obolibrary.org/obo/MONDO_0018338		UMLS:C3714976|SNOMEDCT:711480000|ORPHA:397596
MONDO:0043349	intravascular papillary endothelial hyperplasia	biolink:Disease	mondo	GARD:0010733|SCTID:238770007|UMLS:C0343083|NCIT:C4391	gard_rare	intravascular papillary endothelial hyperplasia|Masson's pseudosarcoma|papillary endothelial hyperplasia|Masson pseudotumor|Masson's pseudoangiosarcoma|Masson's vegetant hemangioma|Masson's pseudotumor|Masson's tumor|masson's pseudosarcoma|Masson lesion|Masson's vegetant intravascular hemangio-endothelioma	http://purl.obolibrary.org/obo/MONDO_0043349	A reactive, well-circumscribed vascular lesion. It is characterized by the formation of thin papillae projecting within the lumen of blood vessels. The papillae are lined by plump endothelial cells. Blood clots are also present.	NCIT:C4391|UMLS:C0343083|SNOMEDCT:238770007
GO:0045824	negative regulation of innate immune response	biolink:OntologyClass	mondo			downregulation of innate immune response|down regulation of innate immune response|inhibition of innate immune response|down-regulation of innate immune response	http://purl.obolibrary.org/obo/GO_0045824	Any process that stops, prevents, or reduces the frequency, rate or extent of the innate immune response.	
MONDO:0018337	severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency	biolink:Disease	mondo	Orphanet:397593|ICD10:E88.8	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018337		ORPHA:397593
GO:0045822	negative regulation of heart contraction	biolink:OntologyClass	mondo			down regulation of heart contraction|inhibition of heart contraction|downregulation of heart contraction|down-regulation of heart contraction|negative regulation of cardiac contraction	http://purl.obolibrary.org/obo/GO_0045822	Any process that stops, prevents, or reduces the frequency, rate or extent of heart contraction.	
GO:0045823	positive regulation of heart contraction	biolink:OntologyClass	mondo			upregulation of heart contraction|up-regulation of heart contraction|positive regulation of cardiac contraction|up regulation of heart contraction|activation of heart contraction|stimulation of heart contraction	http://purl.obolibrary.org/obo/GO_0045823	Any process that activates or increases the frequency, rate or extent of heart contraction.	
MONDO:0018339	PrP systemic amyloidosis	biolink:Disease	mondo	ICD10:G60.8|UMLS:C4518776|SCTID:733422008|Orphanet:397606	ordo_disease	prion protein systemic amyloidosis|chronic diarrhea with hereditary sensory and autonomic neuropathy|chronic diarrhea with HSAN	http://purl.obolibrary.org/obo/MONDO_0018339	(20p13) leading to deposition of prion protein amyloid.	UMLS:C4518776|SNOMEDCT:733422008|ORPHA:397606
MONDO:0018334	chronic hiccup	biolink:Disease	mondo	UMLS:C0744898|GARD:0006657|HP:0100247|SCTID:716771000|Orphanet:396|UMLS:CN205022	ordo_disease|gard_rare	intractable singultus|intractable hiccups|Hiccups, intractable|persistent hiccups|chronic hiccups	http://purl.obolibrary.org/obo/MONDO_0018334	Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours.	ORPHA:396|SNOMEDCT:716771000|UMLS:CN205022|UMLS:C0744898
MONDO:0018333	multiple acyl-CoA dehydrogenase deficiency, mild type	biolink:Disease	mondo	Orphanet:394532|ICD10:E71.3|UMLS:CN205005	ordo_clinical_subtype	MAD deficiency, mild type|glutaric aciduria type 2, mild type|MADD, mild type	http://purl.obolibrary.org/obo/MONDO_0018333		UMLS:CN205005|ORPHA:394532
MONDO:0021977	basaloid follicular hamartoma	biolink:Disease	mondo	ICD9:706.1|GARD:0002354|NCIT:C4749|UMLS:C0474964|SCTID:254705003	gard_rare	basaloid follicular hamartoma|basal cell nevus with comedones	http://purl.obolibrary.org/obo/MONDO_0021977	A type of pilosebaceous hamartoma characterized by basal cell epitheliomata, epidermoid cysts and comedones, and epidermal atrophy.	UMLS:C0474964|SNOMEDCT:254705003|NCIT:C4749
MONDO:0018336	obsolete Silver-Russell syndrome due to a point mutation	biolink:Disease	mondo	ICD10:Q87.1|Orphanet:397590|UMLS:CN225933	ordo_etiological_subtype		http://purl.obolibrary.org/obo/MONDO_0018336		UMLS:CN225933|ORPHA:397590
MONDO:0018335	deep dermatophytosis	biolink:Disease	mondo	ICD10:B35.8|Orphanet:397587	ordo_disease	disseminated granulomatous dermatophytosis	http://purl.obolibrary.org/obo/MONDO_0018335		ORPHA:397587
MONDO:0021979	Basaran Yilmaz syndrome	biolink:Disease	mondo	UMLS:C2931577|MESH:C537660|GARD:0000833	gard_rare	keratoderma, hypotrichosis and leukonychia totalis	http://purl.obolibrary.org/obo/MONDO_0021979	A congenital hypotrichosis that is characterized by trichorrhexis nodosa and trichoptilosis, dry skin, keratosis pilaris and leukonychia totalis. Other features include progressive transgrediens type of palmoplantar keratoderma, and hyperkeratotic lesions on the knees, elbows and perianal region.	MESH:C537660|UMLS:C2931577
MONDO:0018330	mucinous adenocarcinoma of the appendix	biolink:Disease	mondo	ONCOTREE:MAAP|ICD10:C18.1|NCIT:C43558|Orphanet:391723|UMLS:C1706832	ordo_disease	appendiceal mucinous adenocarcinoma|appendix mucinous adenocarcinoma|vermiform appendix mucinous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0018330	Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present.	ORPHA:391723|UMLS:C1706832|NCIT:C43558
MONDO:0018332	multiple acyl-CoA dehydrogenase deficiency, severe neonatal type	biolink:Disease	mondo	UMLS:CN205004|Orphanet:394529|ICD10:E71.3	ordo_clinical_subtype	MADD, severe neonatal type|MAD deficiency, severe neonatal type|glutaric aciduria type 2, severe neonatal type	http://purl.obolibrary.org/obo/MONDO_0018332		UMLS:CN205004|ORPHA:394529
MONDO:0018331	obsolete rare genetic dystonia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018331		
FOODON:03412345	lichen	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03412345	A composite organism that arises from algae or cyanobacteria living among filaments of multiple fungi species in a mutualistic relationship.	
MONDO:0033954	monoclonal mast cell activation syndrome	biolink:Disease	mondo	Orphanet:529468	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0033954		ORPHA:529468
FOODON:03400361	agency food product type	biolink:OntologyClass	mondo	http://www.langual.org/langual_thesaurus.asp?termid=A0361			http://purl.obolibrary.org/obo/FOODON_03400361	A food product type is a class of food products that is differentiated by its food composition, processing and/or consumption characteristics. This does not include brand name products but it may include generic food dish categories.	
GO:0045830	positive regulation of isotype switching	biolink:OntologyClass	mondo			positive regulation of isotype switch recombination|up-regulation of isotype switching|up regulation of isotype switching|activation of isotype switching|positive regulation of class switch recombination|stimulation of isotype switching|upregulation of isotype switching|positive regulation of class switching	http://purl.obolibrary.org/obo/GO_0045830	Any process that activates or increases the frequency, rate or extent of isotype switching.	
GO:0045839	negative regulation of mitotic nuclear division	biolink:OntologyClass	mondo			negative regulation of mitosis|down-regulation of mitosis|down regulation of mitosis|inhibition of mitosis|downregulation of mitosis	http://purl.obolibrary.org/obo/GO_0045839	Any process that stops, prevents or reduces the rate or extent of mitosis. Mitosis is the division of the eukaryotic cell nucleus to produce two daughter nuclei that, usually, contain the identical chromosome complement to their mother.	
NCBITaxon:114277	spotted fever group	organism taxon	mondo	GC_ID:11|PMID:9734038			http://purl.obolibrary.org/obo/NCBITaxon_114277		
GO:0045835	negative regulation of meiotic nuclear division	biolink:OntologyClass	mondo			inhibition of meiosis|downregulation of meiosis|negative regulation of meiosis|down-regulation of meiosis|down regulation of meiosis	http://purl.obolibrary.org/obo/GO_0045835	Any process that stops, prevents, or reduces the frequency, rate or extent of meiosis.	
GO:0045836	positive regulation of meiotic nuclear division	biolink:OntologyClass	mondo			up-regulation of meiosis|up regulation of meiosis|activation of meiosis|positive regulation of meiosis|stimulation of meiosis|upregulation of meiosis	http://purl.obolibrary.org/obo/GO_0045836	Any process that activates or increases the frequency, rate or extent of meiosis.	
GO:0045833	negative regulation of lipid metabolic process	biolink:OntologyClass	mondo			downregulation of lipid metabolic process|inhibition of lipid metabolic process|negative regulation of lipid metabolism|down-regulation of lipid metabolic process|down regulation of lipid metabolic process	http://purl.obolibrary.org/obo/GO_0045833	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving lipids.	
GO:0045834	positive regulation of lipid metabolic process	biolink:OntologyClass	mondo			up-regulation of lipid metabolic process|up regulation of lipid metabolic process|activation of lipid metabolic process|positive regulation of lipid metabolism|stimulation of lipid metabolic process|upregulation of lipid metabolic process	http://purl.obolibrary.org/obo/GO_0045834	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving lipids.	
GO:0031268	pseudopodium organization	biolink:OntologyClass	mondo			pseudopodium organisation|pseudopodium organization and biogenesis	http://purl.obolibrary.org/obo/GO_0031268	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a pseudopodium, a temporary protrusion or retractile process of a cell, associated with cellular movement.	
MONDO:0018392	male infertility with spermatogenesis disorder due to single gene mutation	biolink:Disease	mondo	GARD:0012513|ICD10:N46|Orphanet:399786|UMLS:CN227340	ordo_group_of_disorders|gard_rare		http://purl.obolibrary.org/obo/MONDO_0018392		UMLS:CN227340|ORPHA:399786
MONDO:0018391	male infertility with spermatogenesis disorder	biolink:Disease	mondo	UMLS:CN227339|ICD10:N46|GARD:0012512|Orphanet:399775	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018391		UMLS:CN227339|ORPHA:399775
MONDO:0018394	male infertility with teratozoospermia due to single gene mutation	biolink:Disease	mondo	ICD10:N46|UMLS:CN252642|GARD:0012514|SCTID:764096006|Orphanet:399808	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018394	Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail.	SNOMEDCT:764096006|ORPHA:399808|UMLS:CN252642
MONDO:0018393	male infertility with azoospermia or oligozoospermia due to single gene mutation	biolink:Disease	mondo	UMLS:CN225947|Orphanet:399805|ICD10:N46	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018393	Male infertility with azoospermia or oligospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal.	UMLS:CN225947|ORPHA:399805
MONDO:0033969	inflammatory bowel disease-recurrent sinopulmonary infections syndrome	biolink:Disease	mondo	Orphanet:529980	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0033969		ORPHA:529980
MONDO:0033968	immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome	biolink:Disease	mondo	Orphanet:529977	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0033968		ORPHA:529977
MONDO:0033967	immune dysregulation with inflammatory bowel disease	biolink:Disease	mondo	Orphanet:529974	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0033967		ORPHA:529974
MONDO:0018390	male infertility due to sperm disorder	biolink:Disease	mondo	ICD10:N46|UMLS:CN227338|Orphanet:399771	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018390		UMLS:CN227338|ORPHA:399771
GO:0045843	negative regulation of striated muscle tissue development	biolink:OntologyClass	mondo			down-regulation of striated muscle development|down regulation of striated muscle development|downregulation of striated muscle development|inhibition of striated muscle development	http://purl.obolibrary.org/obo/GO_0045843	Any process that stops, prevents, or reduces the frequency, rate or extent of striated muscle development.	
GO:0045840	positive regulation of mitotic nuclear division	biolink:OntologyClass	mondo			upregulation of mitosis|mitogenic activity|up-regulation of mitosis|up regulation of mitosis|activation of mitosis|positive regulation of mitosis|stimulation of mitosis	http://purl.obolibrary.org/obo/GO_0045840	Any process that activates or increases the frequency, rate or extent of mitosis.	
GO:0045844	positive regulation of striated muscle tissue development	biolink:OntologyClass	mondo			up regulation of striated muscle development|activation of striated muscle development|stimulation of striated muscle development|upregulation of striated muscle development|up-regulation of striated muscle development	http://purl.obolibrary.org/obo/GO_0045844	Any process that activates or increases the frequency, rate or extent of striated muscle development.	
MONDO:0018399	obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018399		
OBO:mondo#excluded_from_qc_check	excluded from QC check	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/mondo#excluded_from_qc_check		
HGNC:21606	MPC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21606		
MONDO:0018396	rare male fertility disorder with obstructive azoospermia	biolink:Disease	mondo	Orphanet:399824|UMLS:CN227342	obsoletion_candidate|ordo_group_of_disorders	rare disorder due to impaired sperm transport|rare disorder with obstructive azoospermia	http://purl.obolibrary.org/obo/MONDO_0018396		UMLS:CN227342|ORPHA:399824
MONDO:0018395	male infertility due to sperm motility disorder	biolink:Disease	mondo	Orphanet:399813|ICD10:N46|UMLS:CN227341	ordo_group_of_disorders	Male infertility due to asthenozoospermia	http://purl.obolibrary.org/obo/MONDO_0018395		UMLS:CN227341|ORPHA:399813
MONDO:0018398	female infertility due to a congenital hypogonadotropic hypogonadism	biolink:Disease	mondo	Orphanet:399839|ICD10:N97.0|Orphanet:399846	ordo_group_of_disorders	rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism	http://purl.obolibrary.org/obo/MONDO_0018398		ORPHA:399839|ORPHA:399846
MONDO:0018397	female infertility due to hypothalamic-pituitary-gonadal axis disorder	biolink:Disease	mondo	ICD10:N97.0|Orphanet:399831|UMLS:CN227343	obsoletion_candidate|ordo_group_of_disorders	rare female infertility due to gonadotropic axis disorder|rare female infertility due to hypothalamic-pituitary-ovarian axis disorder	http://purl.obolibrary.org/obo/MONDO_0018397		UMLS:CN227343|ORPHA:399831
MONDO:0018381	osteochondrosis	biolink:Disease	mondo	ICD10:M92|GARD:0012704|Orphanet:399319|ICD9:732.6|ICD10:M42|MESH:D055034|ICD10:M93.9|UMLS:C0029429|SCTID:19579005|DOID:8125|NCIT:C34879|EFO:0008575	ordo_group_of_disorders|gard_rare	apophysitis|epiphysitis|epiphyseal necrosis|epiphyseal necrosis, NOS|osteochondritis juvenilis|osteochondritis|osteochondrosis not specified as adult or juvenile, of unspecified site	http://purl.obolibrary.org/obo/MONDO_0018381	A condition that is characterized by defective bone growth that affects the growth centers of bone.	DOID:8125|UMLS:C0029429|MESH:D055034|SNOMEDCT:19579005|ORPHA:399319|NCIT:C34879
MONDO:0018380	idiopathic avascular necrosis	biolink:Disease	mondo	Orphanet:399307|ICD10:M87.0	ordo_disease	idiopathic AVN	http://purl.obolibrary.org/obo/MONDO_0018380		ORPHA:399307
MONDO:0018383	osteonecrosis of genetic origin	biolink:Disease	mondo	Orphanet:399380|ICD10:M93.9	ordo_group_of_disorders	genetic osteonecrosis|bone necrosis of genetic origin	http://purl.obolibrary.org/obo/MONDO_0018383	An instance of osteonecrosis that is caused by a modification of the individual's genome.	ORPHA:399380
MONDO:0018382	epiphysiolysis of the hip	biolink:Disease	mondo	EFO:1001317|Orphanet:399329|SCTID:26460006|ICD10:M93.9	ordo_disease	SufE|slipped capital femoral epiphysis|SCFE|epiphysiolysis of the upper femur|slipped upper femoral epiphysis|femoral head epiphysiolysis	http://purl.obolibrary.org/obo/MONDO_0018382	Epiphysiolysis of the hip is a rare osteonecrosis disorder characterized by unilateral or bilateral disruption of the capital femoral physis with varying degrees of posterior epiphysis translation and simultaneous anterior metaphysis displacement. Patients typically present in pre-adolescence/adolescence with pain of variable intensity in varying locations (hip, groin, thigh, knee).	ORPHA:399329|SNOMEDCT:26460006
GO:0018271	biotin-protein ligase activity	biolink:OntologyClass	mondo			biotin-apoprotein ligase activity	http://purl.obolibrary.org/obo/GO_0018271	Catalysis of the reaction: ATP + biotin + protein = AMP + diphosphate + biotin-protein.	
GO:0006289	nucleotide-excision repair	biolink:OntologyClass	mondo			intrastrand cross-link repair|pyrimidine-dimer repair, DNA damage excision|NER	http://purl.obolibrary.org/obo/GO_0006289	A DNA repair process in which a small region of the strand surrounding the damage is removed from the DNA helix as an oligonucleotide. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. Nucleotide excision repair recognizes a wide range of substrates, including damage caused by UV irradiation (pyrimidine dimers and 6-4 photoproducts) and chemicals (intrastrand cross-links and bulky adducts).	
MONDO:0043300	actinic cheilitis	biolink:Disease	mondo	UMLS:C0267026|SCTID:46795000|MESH:C535669|GARD:0009619	gard_rare	solar keratosis of lip|actinic cheilitis|actinic cheilosis	http://purl.obolibrary.org/obo/MONDO_0043300		SNOMEDCT:46795000|UMLS:C0267026|MESH:C535669
MONDO:0006398	retroperitoneal inflammatory myofibroblastic tumor	biolink:Disease	mondo	EFO:1000510|UMLS:C1514921|NCIT:C39741		retroperitoneal space inflammatory myofibroblastic tumor|retroperitoneal inflammatory myofibroblastic tumor	http://purl.obolibrary.org/obo/MONDO_0006398	A multinodular intermediate fibroblastic neoplasm arising from the retroperitoneum. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.	NCIT:C39741|UMLS:C1514921
MONDO:0043303	hyperacusis	biolink:Disease	mondo	GARD:0009655|SCTID:25289003|MESH:D012001|NCIT:C116366	gard_rare	loudness recruitment|sounds seem unnaturally loud|hyperacusia|auditory Hyperesthesias|hyperesthesia, auditory|disturbances, loudness perception|low tolerance to sound|perception disturbance, loudness|auditory hyperesthesia|hyperacusias|hyperesthesias, auditory|loudness Recruitments|perception disturbances, loudness|hyperacusis|oversensitive hearing|phonophobia|loudness perception disturbance|disturbance, loudness perception|hyperacuses|loudness perception disturbances|recruitment, loudness|Phonophobias	http://purl.obolibrary.org/obo/MONDO_0043303	A disorder in which an individual has an abnormally low noise tolerance, and increased sensitivity to sounds.	MESH:D012001|NCIT:C116366|SNOMEDCT:25289003
MONDO:0006399	obsolete rhabdoid tumor of the kidney	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006399		
MONDO:0006396	rectal villous adenoma	biolink:Disease	mondo	SCTID:312823001|EFO:1000506|UMLS:C0730199|NCIT:C4919		villous adenoma of rectum|villous adenoma of the rectum|rectum villous adenoma|rectal villous adenoma	http://purl.obolibrary.org/obo/MONDO_0006396	A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features.	UMLS:C0730199|NCIT:C4919|SNOMEDCT:312823001
MONDO:0006397	renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions	biolink:Disease	mondo	EFO:1000508|ONCOTREE:TRCC|ICDO:0000/0|NCIT:C27891|UMLS:C1337036		renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions|Xp11.2 translocation-related renal cell carcinoma|translocation-associated renal cell carcinoma|TFE3-Rearranged renal cell carcinoma|renal cell cancer associated with Xp11.2 translocations/TFE3 Gene fusions|tRCC	http://purl.obolibrary.org/obo/MONDO_0006397	A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns.	NCIT:C27891|UMLS:C1337036
MONDO:0006394	rectal tubular adenoma	biolink:Disease	mondo	EFO:1000504|UMLS:C3272804|NCIT:C96477		rectal tubular adenoma	http://purl.obolibrary.org/obo/MONDO_0006394	A usually polypoid neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features.	NCIT:C96477|UMLS:C3272804
MONDO:0006395	rectal tubulovillous adenoma	biolink:Disease	mondo	EFO:1000505|UMLS:C1335691|SCTID:448428002|NCIT:C5620		tubulovillous adenoma of rectum|tubulovillous adenoma of the rectum|Villotubular adenoma of rectum|rectal tubulovillous adenoma|Villotubular adenoma of the rectum|rectal Villotubular adenoma	http://purl.obolibrary.org/obo/MONDO_0006395	A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features.	NCIT:C5620|UMLS:C1335691|SNOMEDCT:448428002
MONDO:0006392	rectal hyperplastic polyp	biolink:Disease	mondo	NCIT:C5619|EFO:1000502|UMLS:C1335679		rectal Hp|rectal MP|rectal metaplastic polyp|hyperplastic polyp of rectum|hyperplastic polyp of the rectum	http://purl.obolibrary.org/obo/MONDO_0006392	A serrated polypoid lesion that arises in the rectum. It rarely produces symptoms. This group includes goblet cell rich, mucin poor, and microvesicular hyperplastic polyps.	NCIT:C5619|UMLS:C1335679
MONDO:0006393	rectal traditional serrated adenoma	biolink:Disease	mondo	EFO:1000503|NCIT:C96463|UMLS:C3272790		rectal serrated adenoma type II|rectal TSA|rectal serrated adenoma|rectal traditional serrated adenoma	http://purl.obolibrary.org/obo/MONDO_0006393	An adenoma that arises from the rectum. It is characterized by prominent serration of the glands and the presence of generalized low-grade dysplasia.	NCIT:C96463|UMLS:C3272790
MONDO:0006390	prostate small cell carcinoma	biolink:Disease	mondo	DOID:7141|UMLS:C1300585|EFO:1000499|SCTID:396198006|NCIT:C6766|ONCOTREE:PRSCC		small cell carcinoma of prostate gland|prostate oat cell carcinoma|prostate gland small cell carcinoma|PRSCC|Oat cell carcinoma of prostate|prostate Oat cell carcinoma|Oat cell carcinoma of the prostate|prostate small cell neuroendocrine carcinoma|small cell carcinoma of prostate|small cell carcinoma of the prostate|prostate small cell carcinoma|prostate small cell NEC	http://purl.obolibrary.org/obo/MONDO_0006390	A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells.	DOID:7141|UMLS:C1300585|NCIT:C6766|SNOMEDCT:396198006
GO:0045859	regulation of protein kinase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0045859	Any process that modulates the frequency, rate or extent of protein kinase activity.	
MONDO:0006391	pyloric gland adenoma	biolink:Disease	mondo	NCIT:C43526|EFO:1000501|UMLS:C1709780		pyloric gastric gland adenoma|pyloric gland adenoma	http://purl.obolibrary.org/obo/MONDO_0006391	A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed.	NCIT:C43526|UMLS:C1709780
MONDO:0018389	male infertility due to gonadal dysgenesis or sperm disorder	biolink:Disease	mondo	ICD10:N46|UMLS:CN227337|Orphanet:399764	ordo_group_of_disorders	Male infertility due to testicular dysgenesis or sperm disorder	http://purl.obolibrary.org/obo/MONDO_0018389		UMLS:CN227337|ORPHA:399764
NCBITaxon:33833	Vestibuliferida	organism taxon	mondo	GC_ID:1		Vestibulifera	http://purl.obolibrary.org/obo/NCBITaxon_33833		
MONDO:0018388	rare male infertility due to testicular endocrine disorder	biolink:Disease	mondo	ICD10:N46|UMLS:CN227336|Orphanet:399685	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018388		UMLS:CN227336|ORPHA:399685
MONDO:0018385	osteochondrosis of genetic origin	biolink:Disease	mondo	Orphanet:399391|ICD10:M93.9	ordo_group_of_disorders	genetic osteochondrosis	http://purl.obolibrary.org/obo/MONDO_0018385	An instance of osteochondrosis that is caused by a modification of the individual's genome.	ORPHA:399391
MONDO:0033981	obsolete krt1-related diffuse nonepidermolytic keratoderma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0033981		
MONDO:0018384	avascular necrosis of genetic origin	biolink:Disease	mondo	ICD10:M93.9|Orphanet:399388	ordo_group_of_disorders	genetic avascular necrosis	http://purl.obolibrary.org/obo/MONDO_0018384	An instance of avascular necrosis that is caused by a modification of the individual's genome.	ORPHA:399388
MONDO:0033980	RELA fusion-positive ependymoma	biolink:Disease	mondo	Orphanet:530792	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0033980		ORPHA:530792
MONDO:0018387	rare male infertility due to adrenal disorder	biolink:Disease	mondo	Orphanet:399584|ICD10:N46|UMLS:CN227335	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018387		UMLS:CN227335|ORPHA:399584
MONDO:0018386	rare male infertility due to hypothalamic-pituitary-gonadal axis disorder	biolink:Disease	mondo	Orphanet:399572|ICD10:N46|UMLS:CN227334	ordo_group_of_disorders|obsoletion_candidate	rare male infertility due to gonadotropic axis disorder|rare male infertility due to hypothalamic-pituitary-testicular axis disorder	http://purl.obolibrary.org/obo/MONDO_0018386		UMLS:CN227334|ORPHA:399572
MONDO:0018370	KLHL9-related early-onset distal myopathy	biolink:Disease	mondo	Orphanet:399081|SCTID:763776004|ICD10:G71.0	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018370	KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life.	SNOMEDCT:763776004|ORPHA:399081
MONDO:0018372	obsolete osteonecrosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018372		
MONDO:0018371	nebulin-related early-onset distal myopathy	biolink:Disease	mondo	ICD10:G71.0|Orphanet:399103	ordo_disease	distal nebulin myopathy	http://purl.obolibrary.org/obo/MONDO_0018371		ORPHA:399103
GO:0045864	positive regulation of pteridine metabolic process	biolink:OntologyClass	mondo			up-regulation of pteridine metabolic process|positive regulation of pteridine metabolism|up regulation of pteridine metabolic process|activation of pteridine metabolic process|stimulation of pteridine metabolic process|upregulation of pteridine metabolic process	http://purl.obolibrary.org/obo/GO_0045864	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving pteridine.	
GO:0045862	positive regulation of proteolysis	biolink:OntologyClass	mondo			activation of proteolysis|stimulation of proteolysis|upregulation of proteolysis|positive regulation of peptidolysis|up-regulation of proteolysis|up regulation of proteolysis	http://purl.obolibrary.org/obo/GO_0045862	Any process that activates or increases the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein.	
MONDO:0043314	aquarium granuloma	biolink:Disease	mondo	GARD:0009712|SCTID:240417004|UMLS:C0275708|MESH:C535526	gard_rare	fish tank granuloma|Mycobacterium marinum infection|M. marinum|Mycobacterium marinum caused skin disease|Mycobacterium marinum skin disease|aquarium granuloma|swimming pool granuloma	http://purl.obolibrary.org/obo/MONDO_0043314	A skin condition caused by Mycobacterium marinum, characterized by a skin lesion that presents roughly three weeks after exposure.	UMLS:C0275708|SNOMEDCT:240417004|MESH:C535526
GO:0045863	negative regulation of pteridine metabolic process	biolink:OntologyClass	mondo			down regulation of pteridine metabolic process|negative regulation of pteridine metabolism|downregulation of pteridine metabolic process|inhibition of pteridine metabolic process|down-regulation of pteridine metabolic process	http://purl.obolibrary.org/obo/GO_0045863	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving pteridine.	
GO:0045860	positive regulation of protein kinase activity	biolink:OntologyClass	mondo			stimulation of protein kinase activity|upregulation of protein kinase activity|up-regulation of protein kinase activity|up regulation of protein kinase activity	http://purl.obolibrary.org/obo/GO_0045860	Any process that activates or increases the frequency, rate or extent of protein kinase activity.	
GO:0045861	negative regulation of proteolysis	biolink:OntologyClass	mondo			negative regulation of peptidolysis|down-regulation of proteolysis|down regulation of proteolysis|downregulation of proteolysis|inhibition of proteolysis	http://purl.obolibrary.org/obo/GO_0045861	Any process that stops, prevents, or reduces the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein.	
MONDO:0043310	amaurosis fugax	biolink:Disease	mondo	SCTID:88032003|NCIT:C84550|GARD:0009660|MESH:D020757	gard_rare	blindness, monocular, transient|amaurosis fugax|momentary blindness|amaurosis fugax (one sided temporary vision loss)|monocular blindness, transient|blindness, transient monocular|transient monocular blindness	http://purl.obolibrary.org/obo/MONDO_0043310	Transient complete or partial monocular blindness due to retinal ischemia. This may be caused by emboli from the CAROTID ARTERY (usually in association with CAROTID STENOSIS) and other locations that enter the central RETINAL ARTERY. (From Adams et al., Principles of Neurology, 6th ed, p245)	SNOMEDCT:88032003|NCIT:C84550|MESH:D020757
GO:0043207	response to external biotic stimulus	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0043207	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external biotic stimulus, an external stimulus caused by, or produced by living things.	
MONDO:0018378	osteonecrosis of the jaw	biolink:Disease	mondo	Orphanet:399293|SCTID:441809006|ICD10:K10.2|ICD9:733.45|UMLS:C2711248|NCIT:C63924	ordo_disease	jaw osteonecrosis|ONJ|osteonecrosis of jaw	http://purl.obolibrary.org/obo/MONDO_0018378	An area of necrotic bone in the mandible or maxilla.	NCIT:C63924|UMLS:C2711248|ORPHA:399293|SNOMEDCT:441809006
MONDO:0018377	rare hereditary disease with avascular necrosis	biolink:Disease	mondo	Orphanet:399185|UMLS:CN205038	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0018377		UMLS:CN205038|ORPHA:399185
MONDO:0018379	primary avascular necrosis	biolink:Disease	mondo	ICD10:M87.8|Orphanet:399302	ordo_group_of_disorders	primary AVN	http://purl.obolibrary.org/obo/MONDO_0018379		ORPHA:399302
MONDO:0018374	secondary avascular necrosis	biolink:Disease	mondo	ICD10:M87.3|ICD10:M87.2|ICD10:M87.1|Orphanet:399169	ordo_group_of_disorders	secondary AVN	http://purl.obolibrary.org/obo/MONDO_0018374		ORPHA:399169
MONDO:0018373	avascular necrosis	biolink:Disease	mondo	Orphanet:399164|ICD10:M87.9|ICD10:M87.8|NCIT:C34841|ICD10:M87.3|ICD10:M87.2|ICD10:M87.1|ICD10:M87.0|SCTID:397758007	ordo_group_of_disorders	AVN|avascular necrosis of bone	http://purl.obolibrary.org/obo/MONDO_0018373	Necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure.	SNOMEDCT:397758007|ORPHA:399164|NCIT:C34841
MONDO:0018376	secondary non-traumatic avascular necrosis	biolink:Disease	mondo	ICD10:M87.1|Orphanet:399180|ICD10:M87.3	ordo_disease	secondary non-traumatic AVN	http://purl.obolibrary.org/obo/MONDO_0018376		ORPHA:399180
MONDO:0018375	traumatic avascular necrosis	biolink:Disease	mondo	Orphanet:399175|ICD10:M87.2	ordo_disease	traumatic AVN	http://purl.obolibrary.org/obo/MONDO_0018375		ORPHA:399175
MONDO:0006419	small intestinal intraepithelial neoplasia	biolink:Disease	mondo	NCIT:C27462|EFO:1000536|UMLS:C1335999		small intestinal intraepithelial neoplasia|small intestinal dysplasia	http://purl.obolibrary.org/obo/MONDO_0006419	A precancerous neoplastic process that affects the small intestine. It is characterized by low or high grade dysplasia of the mucosal epithelium. There is no evidence of invasion.	NCIT:C27462|UMLS:C1335999
MONDO:0006417	small intestinal diffuse large B-cell lymphoma	biolink:Disease	mondo	EFO:1000534|UMLS:C3272522|NCIT:C96055		small intestine diffuse large B-cell lymphoma|diffuse large B-cell lymphoma of small intestine|small intestinal diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0006417	A diffuse large B-cell lymphoma that arises from the small intestine.	NCIT:C96055|UMLS:C3272522
MONDO:0006418	small intestinal enteropathy-associated T-cell lymphoma	biolink:Disease	mondo	UMLS:C1519371|NCIT:C39610|EFO:1000535		small intestinal EATL|small intestinal enteropathy-type T-cell lymphoma|small intestine enteropathy-associated T-cell lymphoma|enteropathy-associated T-cell lymphoma of small intestine	http://purl.obolibrary.org/obo/MONDO_0006418	An enteropathy-associated T-cell lymphoma arising from the small intestine, most commonly the jejunum or ileum. Patients usually present with abdominal pain, often associated with intestinal perforation. There is often a history of celiac disease. The lymphoma cells are usually medium-sized to large and form an ulcerating mucosal lesion with invasion of the small intestinal wall. Villous atrophy is present in the adjacent small intestinal mucosa. In a minority of cases the lymphoma cells are medium-sized and form a monomorphic infiltrate.	UMLS:C1519371|NCIT:C39610
MONDO:0006415	obsolete small intestinal adenocarcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006415		
MONDO:0006416	small intestinal Burkitt lymphoma	biolink:Disease	mondo	UMLS:C1335991|NCIT:C27409|EFO:1000533		Burkitt lymphoma of small intestine|small intestine Burkitts lymphoma|small intestine Burkitt lymphoma|primary small intestinal Burkitt's lymphoma|small intestine Burkitt's lymphoma|small intestinal Burkitt's lymphoma|Burkitts lymphoma of small intestine|small intestinal Burkitt lymphoma	http://purl.obolibrary.org/obo/MONDO_0006416	A Burkitt lymphoma that arises from the small intestine.	NCIT:C27409|UMLS:C1335991
MONDO:0006413		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006413		
NCBITaxon:43219	Herpotrichiellaceae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_43219		
MONDO:0006414	skin sarcoma	biolink:Disease	mondo	UMLS:C0856900|NCIT:C5585|EFO:1000531|DOID:2687		skin sarcoma|zone of skin sarcoma|cutaneous sarcoma|sarcoma of skin|sarcoma of zone of skin|sarcoma of the skin	http://purl.obolibrary.org/obo/MONDO_0006414	A sarcoma that arises from the skin. Representative examples include Kaposi sarcoma, angiosarcoma, lymphangiosarcoma, liposarcoma, and leiomyosarcoma.	DOID:2687|NCIT:C5585|UMLS:C0856900
FOODON:03304511	seafood newburg (dish)	biolink:OntologyClass	mondo	SUBSET_SIREN:F4511	"subset_siren"		http://purl.obolibrary.org/obo/FOODON_03304511		
MONDO:0006411	sinonasal undifferentiated carcinoma	biolink:Disease	mondo	UMLS:C1710096|MESH:C537344|GARD:0009249|EFO:1000527|NCIT:C54294|ONCOTREE:SNUC|SCTID:697993003	gard_rare	highly aggressive undifferentiated carcinoma of the nasal cavity and paranasal sinuses|SNUC|Sinonasal anaplastic carcinoma|sinonasal undifferentiated carcinoma|undifferentiated Sinonasal cancer	http://purl.obolibrary.org/obo/MONDO_0006411	A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor.	NCIT:C54294|MESH:C537344|SNOMEDCT:697993003|UMLS:C1710096
MONDO:0006412	sinus histiocytosis with massive lymphadenopathy	biolink:Disease	mondo	NCIT:C36075|EFO:1000528|MESH:D015618|GARD:0007588|SCTID:34287003|ICD9:277.89		Rosai-Dorfman disease|RDD	http://purl.obolibrary.org/obo/MONDO_0006412	A rare disorder of unknown etiology characterized by distention of the lymph node sinuses and sinusoidal histiocytic infiltration. The histiocytes characteristically contain ingested lymphocytes. Patients present with cervical lymphadenopathy, fever, leukocytosis, and hypergammaglobulinemia. It can affect extranodal sites, including skin, bones, and the respiratory tract. It usually regresses spontaneously.	SNOMEDCT:34287003|NCIT:C36075|MESH:D015618
MONDO:0006410	simple endometrial hyperplasia	biolink:Disease	mondo	NCIT:C35463|SCTID:198324001|EFO:1000525|UMLS:C0456483|ICD9:621.31|COHD:199886			http://purl.obolibrary.org/obo/MONDO_0006410	A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia may be present or absent.	UMLS:C0456483|SNOMEDCT:198324001|NCIT:C35463
MONDO:0018408	cystic echinococcosis	biolink:Disease	mondo	GARD:0002764|COHD:255477|ICD10:B67.9|DOID:1495|UMLS:C0153291|ICD10:B67.8|ICD10:B67.4|UMLS:C0153290|ICD10:B67.7|MedDRA:10014096|ICD9:122.4|Orphanet:400|ICD10:B67.6|ICD10:B67.5|UMLS:C4303092|ICD10:B67.3|ICD10:B67.2|ICD10:B67.1|ICD10:B67.0|SCTID:721822004	ordo_disease|gard_rare	Hydatidosis|echinococcus granulosus infectious disease|Echinococcus granulosus infectious disease of liver|hydatid disease|echinococcus granulosus infectious disease of liver|liver echinococcus granulosus|Echinococcus granulosus infection of thyroid|Echinococcus granulosus infection|lung echinococcus granulosus|echinococcus granulosus|echinococcus granulosus infectious disease of thyroid|unilocular hydatid disease|Echinococcus granulosus infection of lung|thyroid echinococcus granulosus|unilocular echinococcosis	http://purl.obolibrary.org/obo/MONDO_0018408		ORPHA:400|MEDDRA:10014096|DOID:1495|UMLS:C0153291|UMLS:C0153290|SNOMEDCT:721822004|UMLS:C4303092
UBERON:0003296	gland of diencephalon	biolink:AnatomicalEntity	mondo			diencephalon gland|interbrain gland	http://purl.obolibrary.org/obo/UBERON_0003296	Any gland that is part of the diencephalon. Examples: pineal gland, neurohypophysis.	
HP:0030976	Abnormal factor VIII activity	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0030976	A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.	
MONDO:0018407	male infertility due to obstructive azoospermia of genetic origin	biolink:Disease	mondo	ICD10:N46|Orphanet:399998	ordo_group_of_disorders	Male infertility due to impaired sperm transport of genetic origin	http://purl.obolibrary.org/obo/MONDO_0018407		ORPHA:399998
UBERON:0003297	gland of integumental system	biolink:AnatomicalEntity	mondo			integumentary gland|integumental system gland|integumental gland	http://purl.obolibrary.org/obo/UBERON_0003297	A gland that is part of a integumental system [Automatically generated definition].	
UBERON:0003294	gland of foregut	biolink:AnatomicalEntity	mondo			foregut gland	http://purl.obolibrary.org/obo/UBERON_0003294	A gland that is part of a foregut [Automatically generated definition].	
MONDO:0018409	rare genetic disorder with obstructive azoospermia	biolink:Disease	mondo	Orphanet:400003|UMLS:CN227352	obsoletion_candidate|ordo_group_of_disorders	rare genetic disorder due to impaired sperm transport	http://purl.obolibrary.org/obo/MONDO_0018409		ORPHA:400003|UMLS:CN227352
UBERON:0003295	pharyngeal gland	biolink:AnatomicalEntity	mondo			glandulae pharyngeae|pharynx gland	http://purl.obolibrary.org/obo/UBERON_0003295	Racemose mucous glands beneath the mucous membrane of the pharynx.	
UBERON:0003292	meninx of spinal cord	biolink:AnatomicalEntity	mondo			spinal cord meninges|spinal meninx|menines of spinal cord|meninges of spinal cord|spinal meninges|spinal cord meninx	http://purl.obolibrary.org/obo/UBERON_0003292	A meninx that is part of a spinal cord [Automatically generated definition].	
MONDO:0018404	obsolete rare genetic male infertility	biolink:Disease	mondo	Orphanet:399980|UMLS:CN227349	ordo_group_of_disorders|obsoletion_candidate	rare genetic male infertility	http://purl.obolibrary.org/obo/MONDO_0018404	Rare genetic male infertility.	ORPHA:399980|UMLS:CN227349
HP:0030972	Abnormal systemic blood pressure	biolink:PhenotypicFeature	mondo			Abnormal systemic BP	http://purl.obolibrary.org/obo/HP_0030972	A chronic deviation from normal pressure in the systemic arterial system.	
MONDO:0018403	female infertility due to an implantation defect	biolink:Disease	mondo	Orphanet:399882|ICD10:N97.2	ordo_group_of_disorders	rare female infertility due to an implantation defect	http://purl.obolibrary.org/obo/MONDO_0018403		ORPHA:399882
UBERON:0003290	meninx of diencephalon	biolink:AnatomicalEntity	mondo			diencephalon meninges|meninx of between brain|meninges of mature diencephalon|meninges of diencephalon|meninx of mature diencephalon|interbrain meninx|mature diencephalon meninx|meninx of interbrain|mature diencephalon meninges|interbrain meninges|between brain meninx|meninges of interbrain|between brain meninges|diencephalon meninx|meninges of between brain	http://purl.obolibrary.org/obo/UBERON_0003290	A meninx that is part of a diencephalon [Automatically generated definition].	
MONDO:0018406	rare male infertility due to adrenal disorder of genetic origin	biolink:Disease	mondo	Orphanet:399994|UMLS:CN227351|ICD10:N46	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018406		ORPHA:399994|UMLS:CN227351
UBERON:0003291	meninx of hindbrain	biolink:AnatomicalEntity	mondo			rhomencephalon meninges|hindbrain meninx|meninges of hindbrain|hindbrain meninges	http://purl.obolibrary.org/obo/UBERON_0003291	A meninx that is part of a hindbrain [Automatically generated definition].	
MONDO:0018405	rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	biolink:Disease	mondo	Orphanet:399983|UMLS:CN227350|ICD10:N46	obsoletion_candidate|ordo_group_of_disorders	rare male infertility due to gonadotropic axis disorder of genetic origin|genetic rare male infertility due to hypothalamic-pituitary-gonadal axis disorder|rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin	http://purl.obolibrary.org/obo/MONDO_0018405	An instance of rare male infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome.	ORPHA:399983|UMLS:CN227350
MONDO:0018400	rare female infertility due to an adrenal disorder	biolink:Disease	mondo	Orphanet:399849|UMLS:CN227346	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0018400		UMLS:CN227346|ORPHA:399849
MONDO:0018402	female infertility due to gonadal dysgenesis	biolink:Disease	mondo	ICD10:N97.0|Orphanet:399877	ordo_group_of_disorders	rare female infertility due to gonadal dysgenesis|female infertility due to ovarian dysgenesis|rare female infertility due to ovarian dysgenesis	http://purl.obolibrary.org/obo/MONDO_0018402		ORPHA:399877
MONDO:0018401	female infertility due to an anomaly of ovarian function	biolink:Disease	mondo	ICD10:N97.0|Orphanet:399853|UMLS:CN227347	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018401		UMLS:CN227347|ORPHA:399853
UBERON:0003299	roof plate of midbrain	biolink:AnatomicalEntity	mondo			midbrain roof plate|roofplate of midbrain|roofplate midbrain|roof plate midbrain|midbrain roof|midbrain roofplate|roof plate midbrain region|roof plate mesencephalon	http://purl.obolibrary.org/obo/UBERON_0003299	the mesencephalic roof plate, including the caudal and rostral part of the midbrain roof	
MONDO:0006428	splenic diffuse large B-cell lymphoma	biolink:Disease	mondo	EFO:1000547|UMLS:C2018774|NCIT:C7308		primary splenic diffuse large B-cell lymphoma|splenic diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0006428	A diffuse large B-cell lymphoma occurring in the spleen.	NCIT:C7308|UMLS:C2018774
MONDO:0006429	splenic hodgkin lymphoma	biolink:Disease	mondo	SCTID:93527005|EFO:1000548|NCIT:C7295|UMLS:C0153791		splenic Hodgkin's lymphoma|Hodgkin's disease of spleen|primary splenic Hodgkin's lymphoma|Hodgkin's disease of the spleen|Hodgkin's lymphoma of spleen|Hodgkin's lymphoma of the spleen|splenic Hodgkins lymphoma|splenic Hodgkin's disease	http://purl.obolibrary.org/obo/MONDO_0006429	A rare Hodgkin lymphoma that arises from the spleen.	NCIT:C7295|SNOMEDCT:93527005|UMLS:C0153791
MONDO:0006426	spinal cord primitive neuroectodermal tumor	biolink:Disease	mondo	DOID:6872|NCIT:C5406|EFO:1000545|UMLS:C1336048		primitive neuroectodermal tumor of the spinal cord|primitive neuroectodermal tumor of spinal cord|spinal cord embryonal tumor, NOS|spinal cord PNET|primitive neuroectodermal neoplasm of the spinal cord|spinal cord primitive neuroectodermal neoplasm|primitive neuroectodermal neoplasm of spinal cord|spinal cord primitive neuroectodermal tumor|spinal cord embryonal tumor, not otherwise specified	http://purl.obolibrary.org/obo/MONDO_0006426	A central nervous system embryonal tumor, not otherwise specified arising from the spinal cord.	UMLS:C1336048|NCIT:C5406|DOID:6872
MONDO:0006427	spindle cell melanoma	biolink:Disease	mondo	SCTID:403923002|ICDO:8772/3|NCIT:C4237|DOID:3162|EFO:1000546|UMLS:C0334444		spindle cell melanoma NOS (morphologic abnormality)|spindle cell malignant melanoma|malignant spindle cell melanoma|desmoplastic melanoma|spindle cell melanoma|spitzoid malignant melanoma	http://purl.obolibrary.org/obo/MONDO_0006427	A melanoma characterized by the presence of malignant spindle-shaped melanocytes.	NCIT:C4237|UMLS:C0334444|SNOMEDCT:403923002|DOID:3162
HP:0040307	Male sexual dysfunction	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0040307	A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity	
MONDO:0006424	soft tissue neoplasm	biolink:Disease	mondo	SCTID:387837005|ONCOTREE:SOFTTISSUE|NCIT:C3377|EFO:1000541		tumor of the soft tissue|tumor of soft tissue|soft tissue neoplasm, NOS|neoplasm of the soft tissue|soft tissue neoplasm|neoplasm of soft tissue|SOFTTISSUE|soft tissue tumor|soft tissue tumors	http://purl.obolibrary.org/obo/MONDO_0006424	A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms.	SNOMEDCT:387837005|NCIT:C3377
MONDO:0006425	obsolete spinal chordoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006425		
MONDO:0006422	small intestinal tubulovillous adenoma	biolink:Disease	mondo	EFO:1000539|UMLS:C1710113|NCIT:C43553			http://purl.obolibrary.org/obo/MONDO_0006422	A neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features.	NCIT:C43553|UMLS:C1710113
MONDO:0006423	soft tissue chondroma	biolink:Disease	mondo	UMLS:C1275277|DOID:3814|SCTID:404078000|EFO:1000540|NCIT:C9482		chondroma of soft parts|extraskeletal osteochondroma|soft tissue chondroma|extraskeletal chondroma	http://purl.obolibrary.org/obo/MONDO_0006423	A benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification.	DOID:3814|UMLS:C1275277|SNOMEDCT:404078000|NCIT:C9482
MONDO:0006420	small intestinal mucosa-associated lymphoid tissue lymphoma	biolink:Disease	mondo	EFO:1000537|UMLS:C1336004|NCIT:C5635		MALToma of the small intestine|MALT lymphoma of the small bowel|mucosa-associated lymphoid tissue lymphoma of the small intestine|MALToma of small intestine|mucosa-associated lymphoid tissue lymphoma of small intestine|MALT lymphoma of small bowel|small bowel MALToma|small bowel mucosa-associated lymphoid tissue lymphoma|mucosa-associated lymphoid tissue lymphoma of the small bowel|MALT lymphoma of the small intestine|MALToma of the small bowel|MALToma of small bowel|MALT lymphoma of small intestine|mucosa-associated lymphoid tissue lymphoma of small bowel|small intestine MALToma|small bowel MALT lymphoma|small intestinal mucosa-associated lymphoid tissue lymphoma|small intestine mucosa-associated lymphoid tissue lymphoma|small intestine MALT lymphoma	http://purl.obolibrary.org/obo/MONDO_0006420	A mucosa-associated lymphoid tissue lymphoma (MALT) that arises from the small intestine. The morphologic characteristics are similar to those seen in gastric MALT lymphomas, with the exception of the lymphoepithelial lesions that are less prominent in the small intestine.	NCIT:C5635|UMLS:C1336004
MONDO:0006421	small intestinal tubular adenoma	biolink:Disease	mondo	EFO:1000538|UMLS:C1710112|NCIT:C43552			http://purl.obolibrary.org/obo/MONDO_0006421	A usually polypoid neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features.	NCIT:C43552|UMLS:C1710112
HP:0003355	Aminoaciduria	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:35912001|UMLS:C0238621|UMLS:C4020843		Hyperaminoaciduria|High urine amino acid levels|Abnormal urinary amino-acid findings|Increased levels of animo acids in urine	http://purl.obolibrary.org/obo/HP_0003355	An increased concentration of an amino acid in the urine.	
UBERON:0003283	mesentery of oesophagus	biolink:AnatomicalEntity	mondo			oesophagus mesentery|esophagus mesentery|gullet mesentery|mesentery of esophagus|meso-esophagus|mesentery of gullet	http://purl.obolibrary.org/obo/UBERON_0003283	A mesentery that is part of a esophagus [Automatically generated definition].	
UBERON:0003284	mesentery of midgut	biolink:AnatomicalEntity	mondo			midgut mesentery	http://purl.obolibrary.org/obo/UBERON_0003284	A mesentery that is part of a midgut [Automatically generated definition].	
UBERON:0003281	mesentery of stomach	biolink:AnatomicalEntity	mondo			ventriculus mesentery|mesentery of ventriculus|stomach mesentery|mesogastium|mesogastrium|mesogaster	http://purl.obolibrary.org/obo/UBERON_0003281	The portion of the primitive mesentery that encloses the stomach; from its dorsal sheet, the greater omentum develops, and from its ventral sheet, the lesser omentum.	
UBERON:0003282	mesentery of heart	biolink:AnatomicalEntity	mondo			mesocardium|cardiac mesentery|heart mesentery	http://purl.obolibrary.org/obo/UBERON_0003282	A mesentery that surrounds the heart.	
UBERON:0003280	endothelium of main bronchus	biolink:AnatomicalEntity	mondo			principal bronchus endothelium|endothelium of bronchus principalis|primary bronchus endothelium|endothelium of principal bronchus|bronchus principalis endothelium|main bronchus endothelium|endothelium of primary bronchus	http://purl.obolibrary.org/obo/UBERON_0003280	An endothelium that is part of a main bronchus [Automatically generated definition].	
HGNC:1476	CAPN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1476		
HGNC:1477	CAPN10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1477		
UBERON:0003289	meninx of telencephalon	biolink:AnatomicalEntity	mondo			telencephalon meninx|meninges of telencephalon|telencephalon meninges	http://purl.obolibrary.org/obo/UBERON_0003289	A meninx that is part of a telencephalon [Automatically generated definition].	
HP:0003351	Decreased circulating renin level	biolink:PhenotypicFeature	mondo	UMLS:C1845206		Decreased plasma renin activity|Low plasma renin activity|Suppressed plasma renin activity	http://purl.obolibrary.org/obo/HP_0003351	An decreased level of renin in the blood.	
UBERON:0003288	meninx of midbrain	biolink:AnatomicalEntity	mondo			mesencephalon meninges|midbrain meninges|meninges of midbrain|midbrain meninx	http://purl.obolibrary.org/obo/UBERON_0003288	A meninx that is part of a midbrain [Automatically generated definition].	
UBERON:0015251	modified sebaceous gland	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015251		
HGNC:1482	CAPN5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1482		
HGNC:1480	CAPN3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1480		
UBERON:0003278	skeleton of lower jaw	biolink:AnatomicalEntity	mondo			lower jaw skeleton|mandibular series|lower jaw|mandibles|mandible	http://purl.obolibrary.org/obo/UBERON_0003278	A subdivision of the skeleton that corresponds to the lower part of the mouth. The lower jaw skeleton includes the following elements, when present: lower jaw teeth, the mandible and other lower jaw bones, and Meckel's cartilage.	
UBERON:0003279	endothelium of trachea	biolink:AnatomicalEntity	mondo			windpipe endothelium|trachea endothelium|endothelium of windpipe	http://purl.obolibrary.org/obo/UBERON_0003279	An endothelium that is part of a trachea.	
UBERON:0003277	skeleton of upper jaw	biolink:AnatomicalEntity	mondo			upper jaw skeleton|upper jaw	http://purl.obolibrary.org/obo/UBERON_0003277	A subdivision of the skeleton that corresponds to the upper part of the mouth. The lower jaw skeleton includes the following elements, when present: upper jaw teeth, the maxilla and other lower jaw bones.	
MONDO:0006408	sex hormone-producing adrenal cortex adenoma	biolink:Disease	mondo	UMLS:C1710067|NCIT:C48452|EFO:1000523		Sex hormone producing adrenal cortical adenoma|Sex hormone producing adrenal cortex adenoma	http://purl.obolibrary.org/obo/MONDO_0006408	A rare adenoma of the adrenal cortex that produces androgens or estrogens.	UMLS:C1710067|NCIT:C48452
MONDO:0006409	signet ring cell gastric adenocarcinoma	biolink:Disease	mondo	NCIT:C5250|UMLS:C1335965|ONCOTREE:SSRCC|DOID:8025|EFO:1000524		signet Ring cell adenocarcinoma of stomach|gastric signet Ring cell adenocarcinoma|gastric signet ring cell adenocarcinoma|signet ring cell carcinoma of the stomach|signet ring cell gastric adenocarcinoma|signet Ring cell adenocarcinoma of the stomach|signet Ring cell stomach adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006409	A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin.	NCIT:C5250|DOID:8025|UMLS:C1335965
MONDO:0006406	sarcomatoid carcinoma	biolink:Disease	mondo	DOID:4015|ICDO:8033/3|ICDO:8032/3|UMLS:C0205697|NCIT:C27004|EFO:1000520		carcinoma, spindle cell, malignant|pseudosarcomatous carcinoma|spindle cell carcinoma (morphologic abnormality)|spindle cell carcinoma|sarcomatoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0006406	A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present.	DOID:4015|NCIT:C27004|UMLS:C0205697
MONDO:0006407	sarcomatoid mesothelioma	biolink:Disease	mondo	DOID:4488|UMLS:C0334513|NCIT:C45655|EFO:1000521		malignant fibrous mesothelioma (morphologic abnormality)|sarcomatoid mesothelioma (morphologic abnormality)|spindled mesothelioma|sarcomatoid mesothelioma|malignant fibrous mesothelioma	http://purl.obolibrary.org/obo/MONDO_0006407	A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen.	DOID:4488|NCIT:C45655|UMLS:C0334513
MONDO:0006404	salivary gland large cell carcinoma	biolink:Disease	mondo	NCIT:C35735|EFO:1000517|UMLS:C2111671		large cell undifferentiated salivary gland carcinoma|saliva-secreting gland large cell carcinoma|large cell salivary gland carcinoma|salivary gland large cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006404	A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass.	UMLS:C2111671|NCIT:C35735
MONDO:0006405	salivary gland small cell carcinoma	biolink:Disease	mondo	NCIT:C35703|EFO:1000519|UMLS:C1335982		saliva-secreting gland small cell carcinoma|small cell carcinoma of saliva-secreting gland|salivary gland anaplastic small cell carcinoma|salivary gland small cell carcinoma|neuroendocrine carcinoma of salivary gland|neuroendocrine carcinoma of the salivary gland|anaplastic small cell carcinoma of salivary gland|anaplastic small cell carcinoma of the salivary gland|small cell salivary gland carcinoma|salivary gland neuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0006405	An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures.	NCIT:C35703|UMLS:C1335982
MONDO:0006402	salivary gland basal cell adenocarcinoma	biolink:Disease	mondo	ICDO:8147/3|EFO:1000515|NCIT:C3678		basal cell adenocarcinoma|salivary gland basal cell adenocarcinoma|skin basal cell carcinoma of saliva-secreting gland|saliva-secreting gland skin basal cell carcinoma|basal cell adenocarcinoma of salivary gland|basal cell adenocarcinoma of the salivary gland	http://purl.obolibrary.org/obo/MONDO_0006402	A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients.	NCIT:C3678
MONDO:0006403	salivary gland carcinoma ex pleomorphic adenoma	biolink:Disease	mondo	EFO:1000516|DOID:297|UMLS:C1519172|NCIT:C40410		saliva-secreting gland carcinoma ex pleomorphic adenoma|salivary gland carcinoma ex pleomorphic adenoma|carcinoma in pleomorphic adenoma|pleomorphic adenoma carcinoma|carcinoma ex pleomorphic adenoma	http://purl.obolibrary.org/obo/MONDO_0006403	A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.	UMLS:C1519172|NCIT:C40410|DOID:297
MONDO:0006400	salivary gland acinic cell carcinoma	biolink:Disease	mondo	NCIT:C8013|EFO:1000513|UMLS:C0279738		salivary gland acinic cell cancer|salivary gland acinic cell tumor|acinic cell neoplasm of salivary gland|acinic cell neoplasm of the salivary gland|acinic cell tumor of salivary gland|acinic cell carcinoma of salivary gland|salivary gland acinic cell neoplasm|acinic cell tumor of the salivary gland|acinic cell carcinoma of the salivary gland	http://purl.obolibrary.org/obo/MONDO_0006400	A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis.	UMLS:C0279738|NCIT:C8013
UBERON:0015249	digit skin	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015249	A zone of skin that is part of a digit [Automatically generated definition].	
MONDO:0006401	salivary gland adenosquamous carcinoma	biolink:Disease	mondo	EFO:1000514|NCIT:C35737|UMLS:C1335894		salivary gland adenosquamous carcinoma|saliva-secreting gland adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0006401	A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component.	UMLS:C1335894|NCIT:C35737
HGNC:1492	SHPK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1492		
UBERON:0003261	thyroid primordium endoderm	biolink:AnatomicalEntity	mondo			endoderm of thyroid primordium	http://purl.obolibrary.org/obo/UBERON_0003261	An endoderm that is part of a thyroid primordium.	
UBERON:0003262	amniotic mesoderm	biolink:AnatomicalEntity	mondo			amnionic mesoderm|amnion mesoderm|mesenchyme of amnion|amnionic mesenchyme|amnion mesenchyme|amnionic mesoderm	http://purl.obolibrary.org/obo/UBERON_0003262	A mesenchyme that is part of a amnion.	
UBERON:0003260	endoderm of hindgut	biolink:AnatomicalEntity	mondo			hindgut endoderm	http://purl.obolibrary.org/obo/UBERON_0003260	An endoderm that is part of a hindgut [Automatically generated definition].	
ECTO:0001152	organochlorine compound exposure	biolink:OntologyClass	mondo			exposure to organochlorine compound	http://purl.obolibrary.org/obo/ECTO_0001152	An exposure to organochlorine compound.	
UBERON:0003269	skeletal muscle tissue of eye	biolink:AnatomicalEntity	mondo			eye skeletal muscle tissue|skeletal muscle tissue of eye|eye skeletal muscle|eye skeletal muscle group	http://purl.obolibrary.org/obo/UBERON_0003269	A portion of skeletal muscle tissue that is part of a eye [Automatically generated definition].	
UBERON:0003267	tooth of upper jaw	biolink:AnatomicalEntity	mondo			maxillary tooth|upper jaw tooth	http://purl.obolibrary.org/obo/UBERON_0003267	A calcareous tooth that is part of the upper jaw region. In mammals, the upper jaw teeth are attached to the maxilla.	
HP:0003330	Abnormal bone structure	biolink:PhenotypicFeature	mondo	UMLS:C4025630			http://purl.obolibrary.org/obo/HP_0003330	Any anomaly in the composite material or the layered arrangement of the bony skeleton.	
UBERON:0003268	tooth of lower jaw	biolink:AnatomicalEntity	mondo			lower jaw dentine containing tooth|lower jaw tooth|mandibular tooth|lower jaw calcareous tooth|lower jaw vertebrate tooth|calcareous tooth of lower jaw	http://purl.obolibrary.org/obo/UBERON_0003268	A calcareous tooth that is part of the lower jaw region. In mammals, the lower jaw teeth are attached to the mandible (dentary).	
HGNC:1497	CASK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1497		
UBERON:0003265	chorionic mesenchyme	biolink:AnatomicalEntity	mondo			chorion mesoderm|mesenchyme of chorion|chorionic mesenchyme|mesenchyme of chorion (vertebrates)|chorion mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003265	A mesenchyme that is part of a chorion.	
HGNC:1494	ALX1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1494		
MONDO:0006459	thymoma type B1	biolink:Disease	mondo	ICDO:8583/1|DOID:6917|NCIT:C6887|EFO:1000584|UMLS:C1266094		thymoma type B1|predominantly cortical thymoma|lymphocyte-rich thymoma|lymphocyte-predominant thymoma|thymoma, organoid|organoid thymoma	http://purl.obolibrary.org/obo/MONDO_0006459	A thymic epithelial neoplasm characterized by the presence of expanded areas which resemble the normal thymic cortex. The neoplastic epithelial cells are small and scant and there is a dense T-lymphocytic component present. Areas of medullary differentiation with or without Hassall's corpuscles are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It has a low grade malignant potential. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II tumors.	UMLS:C1266094|DOID:6917|NCIT:C6887
MONDO:0006457	obsolete thymoma type AB	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006457		
MONDO:0006458	thymoma type B3	biolink:Disease	mondo	NCIT:C7997|DOID:7926|EFO:1000583|UMLS:C0279705|ICDO:8585/3|ICDO:8585/1		well-differentiated thymic carcinoma|epithelial malignant thymoma|atypical thymoma|thymoma, epithelial|squamoid thymoma|epithelial thymoma|thymoma type B3|well differentiated thymic carcinoma|malignant thymoma type B3	http://purl.obolibrary.org/obo/MONDO_0006458	Also known as well-differentiated thymic carcinoma, atypical thymoma, or epithelial thymoma, this type of thymoma displays morphologic characteristics of a well-differentiated carcinoma. The majority of cases occur in the anterior mediastinum as Masaoka stage II or stage III tumors. It is almost always invasive, it recurs frequently, and metastasizes in approximately 20% of the cases.	DOID:7926|UMLS:C0279705|NCIT:C7997
MONDO:0006455	thymic undifferentiated carcinoma	biolink:Disease	mondo	NCIT:C35718|UMLS:C1336865|EFO:1000580		thymic undifferentiated carcinoma	http://purl.obolibrary.org/obo/MONDO_0006455	A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features.	UMLS:C1336865|NCIT:C35718
CHEBI:83813	proteinogenic amino acid	biolink:ChemicalSubstance	mondo			canonical amino acid|canonical amino acids|proteinogenic amino acids	http://purl.obolibrary.org/obo/CHEBI_83813	Any of the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. Apart from glycine, which is non-chiral, all have L configuration.	
MONDO:0006456	thymoma (disease)	biolink:Disease	mondo	ICDO:8580/1|ICD10:D38.4|ICD10:D15.0|ONCOTREE:THYM|UMLS:C0040100|MedDRA:10043670|Orphanet:99867|DOID:3275|ICD9:239.89|NCIT:C3411|EFO:1000581|HP:0100522|SCTID:444231005	ordo_disease	primary thymic epithelial neoplasm|THYM|primary thymic epithelial tumor|thymoma	http://purl.obolibrary.org/obo/MONDO_0006456	A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course.	MEDDRA:10043670|NCIT:C3411|SNOMEDCT:444231005|ORPHA:99867|MESH:D013945|DOID:3275|UMLS:C0040100
CHEBI:83812	non-proteinogenic amino acid derivative	biolink:ChemicalSubstance	mondo			non-canonical amino acid derivative|non-proteinogenic amino-acid derivatives|non-canonical amino-acid derivatives	http://purl.obolibrary.org/obo/CHEBI_83812	Any derivative of a non-proteinogenic amino acid resulting from reaction at an amino group or carboxy group, or from the replacement of any hydrogen by a heteroatom.	
CHEBI:83811	proteinogenic amino acid derivative	biolink:ChemicalSubstance	mondo			proteinogenic amino acid derivatives|canonical amino acid derivative|proteinogenic amino-acid derivatives|proteinogenic amino-acid derivative|canonical amino acid derivatives|canonical amino-acid derivatives|canonical amino-acid derivative	http://purl.obolibrary.org/obo/CHEBI_83811	Any derivative of a proteinogenic amino acid resulting from reaction at an amino group, carboxy group, or a side-chain functional group, or from the replacement of any hydrogen by a heteroatom.	
MONDO:0006453	obsolete thymic small cell carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006453	An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies.	
MONDO:0006454	obsolete thymic squamous cell carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006454	A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation.	
MONDO:0006451	thymic carcinoma	biolink:Disease	mondo	UMLS:C1322286|EFO:1000576|MedDRA:10061031|UMLS:C0205969|GARD:0011952|Orphanet:99868|NCIT:C7569|DOID:4554|ICDO:8586/3|SCTID:444374006|UMLS:CN207411|ONCOTREE:THYC|DOID:3284|ICD10:C37	ordo_disease	malignant thymoma|thymoma, malignant|thymic carcinoma (excluding well differentiated thymic carcinoma)|THYC|thymic carcinoma|thymoma, type C (morphologic abnormality)|type C thymoma|thymic carcinoma excluding well differentiated thymic carcinoma|carcinoma of thymus|thymoma, type C|thymoma type C|thymus carcinoma|thymoma, malignant (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0006451	Thymic carcinoma (TC) is a type of thymic epithelial neoplasm characterized by a high malignant potential.	ORPHA:99868|DOID:4554|SNOMEDCT:444374006|DOID:3284|UMLS:CN207411|NCIT:C7569|MEDDRA:10061031|UMLS:C0205969|UMLS:C1322286
MONDO:0006452	thymic sarcomatoid carcinoma	biolink:Disease	mondo	EFO:1000577|NCIT:C6463|DOID:8138|UMLS:C1335924		sarcomatoid carcinoma of Thymus|sarcomatoid carcinoma of the Thymus|thymic spindle cell carcinoma|thymic carcinosarcoma|Thymus sarcomatoid carcinoma|thymic sarcomatoid carcinoma|thymus sarcomatoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0006452	A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma.	UMLS:C1335924|NCIT:C6463|DOID:8138
MONDO:0006450	therapy-related myeloid neoplasm	biolink:Disease	mondo	EFO:1000575|NCIT:C27912|ONCOTREE:TMN|ICDO:9920/3|DOID:0111365		therapy-related acute myeloid leukemia and myelodysplastic syndrome|therapy-related myeloid neoplasms|therapy-related AML and MDS|therapy-related myeloid neoplasm|TMN|acute myeloid Leukaemias and myelodysplastic syndromes, therapy-related	http://purl.obolibrary.org/obo/MONDO_0006450	Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders.	DOID:0111365|NCIT:C27912
MONDO:0018448	clear cell papillary renal cell carcinoma	biolink:Disease	mondo	SCTID:734015000|ICD10:C64|UMLS:C4518333|Orphanet:404511|ONCOTREE:CCPRC	ordo_histopathological_subtype		http://purl.obolibrary.org/obo/MONDO_0018448	Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome.	SNOMEDCT:734015000|UMLS:C4518333|ORPHA:404511
MONDO:0018447	chondromyxoid fibroma	biolink:Disease	mondo	ICD10:D16.9|UMLS:C0221290|ICDO:9241/0|Orphanet:404507|EFO:0000332|NCIT:C3830	ordo_disease	Chondromyxoid fibroma	http://purl.obolibrary.org/obo/MONDO_0018447	An uncommon benign cartilaginous neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain.	NCIT:C3830|UMLS:C0221290|ORPHA:404507
MONDO:0018449	acquired cystic disease-associated renal cell carcinoma	biolink:Disease	mondo	UMLS:CN226194|Orphanet:404514|ICD10:C64	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018449	Acquired cystic disease-associated renal cell carcinoma is a rare subtype of renal cell carcinoma, ocurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior.	UMLS:CN226194|ORPHA:404514
MONDO:0018444	female infertility due to fertilization defect	biolink:Disease	mondo	Orphanet:404469|ICD10:N97.8	ordo_group_of_disorders	rare female infertility due to oocyte maturation|rare female infertility due to oocyte maturation defect|female infertility due to fecundation defect	http://purl.obolibrary.org/obo/MONDO_0018444		ORPHA:404469
MONDO:0018443	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome	biolink:Disease	mondo	ICD10:Q87.8|Orphanet:404451|UMLS:CN226185	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0018443		UMLS:CN226185|ORPHA:404451
MONDO:0018446	autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome	biolink:Disease	mondo	UMLS:CN226191|Orphanet:404481|ICD10:G11.1	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018446		UMLS:CN226191|ORPHA:404481
MONDO:0018445	global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome	biolink:Disease	mondo	UMLS:CN226190|ICD10:Q87.3|Orphanet:404476	ordo_malformation_syndrome	glow syndrome	http://purl.obolibrary.org/obo/MONDO_0018445		UMLS:CN226190|ORPHA:404476
MONDO:0018440	autosomal recessive distal renal tubular acidosis	biolink:Disease	mondo	Orphanet:402041|ICD10:N25.8|UMLS:C1864498	ordo_clinical_subtype	AR dRTA|autosomal recessive distal renal tubular acidosis (disease)|autosomal recessive distal RTA|distal renal tubular acidosis (disease), autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0018440	Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed.	ORPHA:402041|UMLS:C1864498
MONDO:0018442	acitretin/etretinate embryopathy	biolink:Disease	mondo	GARD:0000468|ICD10:Q86.8|Orphanet:40366|SCTID:725287006|UMLS:CN205049|MESH:C538169	gard_rare|ordo_disease	Acitretine embryofetopathy|acitretin embryopathy|fetal acitretin/etretinate syndrome|fetal acitretin syndrome|acitretin embryofetopathy|retinoid embryopathy	http://purl.obolibrary.org/obo/MONDO_0018442	Acitretin/Etretinate embryopathy is a teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies.	MESH:C538169|SNOMEDCT:725287006|UMLS:CN205049|ORPHA:40366
MONDO:0018441	obsolete hepatitis delta	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018441		
MONDO:0006468	thyroid gland undifferentiated (anaplastic) carcinoma	biolink:Disease	mondo	SCTID:255031003|Orphanet:142|NCIT:C3878|DOID:0080522|HP:0011779|GARD:0000664|EFO:1000595|ONCOTREE:THAP|MedDRA:10002240|UMLS:C0238461|MESH:D065646|ICD10:C73	gard_rare|ordo_disease	anaplastic thyroid carcinoma|Dedifferentiated thyroid gland carcinoma|thyroid carcinoma, anaplastic|undifferentiated carcinoma of the thyroid gland|undifferentiated carcinoma of thyroid gland|anaplastic carcinoma of the thyroid gland|thyroid gland undifferentiated carcinoma|anaplastic carcinoma of thyroid gland|undifferentiated carcinoma of the thyroid|pleomorphic thyroid gland carcinoma|thyroid gland carcinosarcoma|undifferentiated carcinoma of thyroid|anaplastic carcinoma of the thyroid|anaplastic thyroid gland carcinoma|metaplastic thyroid gland carcinoma|anaplastic carcinoma of thyroid|undifferentiated thyroid gland carcinoma|THAP|undifferentiated (anaplastic) thyroid gland carcinoma|sarcomatoid thyroid gland carcinoma|thyroid gland undifferentiated (anaplastic) carcinoma|undifferentiated thyroid carcinoma|anaplastic thyroid cancer|undifferentiated (anaplastic) thyroid gland cancer|undifferentiated thyroid tumor|thyroid cancer, anaplastic	http://purl.obolibrary.org/obo/MONDO_0006468	A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive.	UMLS:C0238461|NCIT:C3878|ORPHA:142|DOID:0080522|MESH:C536910|MESH:D065646|SNOMEDCT:255031003|MEDDRA:10002240
MONDO:0006469	tibial adamantinoma	biolink:Disease	mondo	EFO:1000596|UMLS:C1273017|DOID:6322|NCIT:C8461|SCTID:281702006		adamantinoma of tibia|tibia adamantinoma|tibial adamantinoma morphology|tibia long bone adamantinoma|tibial adamantinoma	http://purl.obolibrary.org/obo/MONDO_0006469	An adamantinoma arising from the tibia. The tibia is the site which is more frequently involved by adamantinoma (80-90% of cases).	DOID:6322|NCIT:C8461|SNOMEDCT:281702006|UMLS:C1273017
MONDO:0006466	thyroid gland spindle cell tumor with thymus-like differentiation	biolink:Disease	mondo	UMLS:C1266099|DOID:0050923|EFO:1000593|ICDO:8588/3|NCIT:C46105		spindle epithelial tumor with thymus-like differentiation tumor|settle|settle tumor	http://purl.obolibrary.org/obo/MONDO_0006466	A rare, slow growing, primary carcinoma of the thyroid gland characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. A small number of cases are composed exclusively of spindle epithelial cells or glandular cells.	UMLS:C1266099|NCIT:C46105|DOID:0050923
MONDO:0006467	thyroid gland squamous cell carcinoma	biolink:Disease	mondo	UMLS:C1710177|EFO:1000594|NCIT:C46008		thyroid gland squamous cell carcinoma|squamous cell thyroid gland carcinoma	http://purl.obolibrary.org/obo/MONDO_0006467	A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive.	NCIT:C46008|UMLS:C1710177
MONDO:0006464	thyroid gland mucosa-associated lymphoid tissue lymphoma	biolink:Disease	mondo	NCIT:C7601|EFO:1000591|UMLS:C1336754		thyroid MALT lymphoma|thyroid mucosa-associated lymphoid tissue lymphoma	http://purl.obolibrary.org/obo/MONDO_0006464	An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis.	NCIT:C7601|UMLS:C1336754
CHEBI:83822	non-proteinogenic L-alpha-amino acid	biolink:ChemicalSubstance	mondo			non-proteinogenic L-alpha-amino acids	http://purl.obolibrary.org/obo/CHEBI_83822	Any L-alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.	
CHEBI:83821	amino acid derivative	biolink:ChemicalSubstance	mondo			modified amino acids|amino acid derivatives	http://purl.obolibrary.org/obo/CHEBI_83821	Any derivative of an amino acid resulting from reaction at an amino group, carboxy group, side-chain functional group, or from the replacement of any hydrogen by a heteroatom. The definition normally excludes peptides containing amino acid residues.	
MONDO:0006465	thyroid gland oncocytic follicular carcinoma	biolink:Disease	mondo	EFO:1000592|NCIT:C4946		thyroid Hurthle cell carcinoma|thyroid gland Hurthle cell carcinoma|Hurthle cell thyroid gland carcinoma|oncocytic carcinoma of the thyroid|thyroid oncocytic carcinoma|oncocytic carcinoma of thyroid|Hurthle cell carcinoma of the thyroid gland|Hurthle cell carcinoma of thyroid gland|Hurthle cell carcinoma of the thyroid|Hurthle cell carcinoma of thyroid	http://purl.obolibrary.org/obo/MONDO_0006465	A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent.	NCIT:C4946
MONDO:0006462	thyroid gland diffuse large B-cell lymphoma	biolink:Disease	mondo	UMLS:C1336749|EFO:1000587|NCIT:C6046		thyroid gland diffuse large B-cell lymphoma|diffuse large B-cell lymphoma of the thyroid gland|primary thyroid gland diffuse large B-cell lymphoma|diffuse large B-cell lymphoma of thyroid gland|diffuse large B-cell lymphoma of the thyroid|diffuse large B-cell lymphoma of thyroid|thyroid diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0006462	A diffuse large B-cell lymphoma primarily involving the thyroid gland.	NCIT:C6046|UMLS:C1336749
CHEBI:83820	non-proteinogenic amino acid	biolink:ChemicalSubstance	mondo			non-coded amino acids|non-canonical amino acid|non-canonical amino-acids|non-canonical amino-acid|non-canonical amino acids|non-coded amino acid|non-proteinogenic amino-acids|non-coded amino-acid|non-proteinogenic amino acids|non-coded amino-acids|non-proteinogenic amino-acid	http://purl.obolibrary.org/obo/CHEBI_83820	Any amino-acid that is not naturally encoded in the genetic code of any organism.	
MONDO:0006463	thyroid gland mucoepidermoid carcinoma	biolink:Disease	mondo	DOID:4687|UMLS:C1513721|EFO:1000590|NCIT:C38762		mucoepidermoid thyroid gland carcinoma|mucoepidermoid thyroid carcinoma|thyroid gland mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0006463	A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent.	UMLS:C1513721|DOID:4687|NCIT:C38762
MONDO:0006460	thyroglossal duct cyst	biolink:Disease	mondo	EFO:1000585|SCTID:39462005|ICD9:759.2|MESH:D013955			http://purl.obolibrary.org/obo/MONDO_0006460	A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck.	MESH:D013955|NCIT:C85189|SNOMEDCT:39462005
MONDO:0006461	obsolete thyroid gland carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006461		
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	biolink:PhenotypicFeature	mondo	UMLS:C4025618|UMLS:C4020842		Abnormality of neuromuscular transmission	http://purl.obolibrary.org/obo/HP_0003398	Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers.	
MONDO:0018437	acute myeloid leukemia with NPM1 somatic mutations	biolink:Disease	mondo	SCTID:763309005|ICD10:C92.0|Orphanet:402026	ordo_disease	AML with NPM1 somatic mutations	http://purl.obolibrary.org/obo/MONDO_0018437	Acute myeloid leukemia with NPM1 somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy.	ORPHA:402026|SNOMEDCT:763309005
MONDO:0018436	megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)	biolink:Disease	mondo	Orphanet:402023|SCTID:763796007|ICD10:C94.2	ordo_disease	megakaryoblastic AML with t(1;22)(p13;q13)	http://purl.obolibrary.org/obo/MONDO_0018436	Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease.	ORPHA:402023|SNOMEDCT:763796007
MONDO:0018439	eosinophilic colitis	biolink:Disease	mondo	NCIT:C27053|Orphanet:402035|COHD:77923|ICD10:K52.8|UMLS:C0267448|ICD9:558.42|SCTID:29120000|ICD10:K52.82	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018439	Inflammation of the colon that is characterized by eosinic infiltration.	ORPHA:402035|UMLS:C0267448|SNOMEDCT:29120000|NCIT:C27053
MONDO:0018438	eosinophilic gastrointestinal disease	biolink:Disease	mondo	UMLS:CN226154|ICD10:K52.8|Orphanet:402029	ordo_group_of_disorders	primary eosinophilic gastrointestinal disease|EGID	http://purl.obolibrary.org/obo/MONDO_0018438		ORPHA:402029|UMLS:CN226154
MONDO:0018433	acute myeloid leukemia with t(6;9)(p23;q34)	biolink:Disease	mondo	ICD10:C92.0|Orphanet:402014	ordo_disease	AML with t(6;9)(p23;q34)	http://purl.obolibrary.org/obo/MONDO_0018433	Acute myeloid leukemia with t(6;9)(p23;q34) is a rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported.	ORPHA:402014
MONDO:0018432	lichen myxedematosus	biolink:Disease	mondo	ICD9:701.8|Orphanet:402007|SCTID:111197009|ICD10:L98.5	ordo_group_of_disorders	lichen myxoedematosus|papular mucinosis|lichenoid myxedema	http://purl.obolibrary.org/obo/MONDO_0018432		SNOMEDCT:111197009|ORPHA:402007
MONDO:0018435	acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)	biolink:Disease	mondo	ICD10:C92.0|GARD:0012759|Orphanet:402020	ordo_disease|gard_rare	AML with inv3(q21;q26.2) or t(3;3)(q21;q26.2)|AML with inv3(p21;q26.2) or t(3;3)(p21;q26.2)|acute myeloid leukemia with inv3(q21;q26.2) or t(3;3)(q21;q26.2)	http://purl.obolibrary.org/obo/MONDO_0018435	Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2) is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dyslplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported.	ORPHA:402020
MONDO:0018434	acute myeloid leukemia with t(9;11)(p22;q23)	biolink:Disease	mondo	ICD10:C92.0|Orphanet:402017	ordo_disease	AML with t(9;11)(p22;q23)	http://purl.obolibrary.org/obo/MONDO_0018434		ORPHA:402017
MONDO:0018431	cold-induced sweating syndrome - hyperthermia spectrum	biolink:Disease	mondo	UMLS:CN226150|ICD10:G90.8|Orphanet:401993	ordo_group_of_disorders|ordo_inheritance_inconsistent		http://purl.obolibrary.org/obo/MONDO_0018431		UMLS:CN226150|ORPHA:401993
MONDO:0018430	partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome	biolink:Disease	mondo	ICD10:Q04.3|Orphanet:401959|UMLS:CN226145	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0018430	Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome is a rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.	ORPHA:401959|UMLS:CN226145
MONDO:0006439	obsolete syringocystadenoma papilliferum	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006439		
NCBITaxon:69826	Ornithodoros savignyi	organism taxon	mondo	GC_ID:1		Argas savignyi	http://purl.obolibrary.org/obo/NCBITaxon_69826		
MONDO:0006437	obsolete superficial fibromatosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006437		
MONDO:0006438	synovial chondromatosis	biolink:Disease	mondo	MESH:D015838|EFO:1000557|GARD:0006054|NCIT:C34467|UMLS:C0008476	gard_rare	Henderson-Jones syndrome|Reichel's syndrome|synovial osteochondromatosis	http://purl.obolibrary.org/obo/MONDO_0006438	Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint. Some tumors may be no larger than a grain of rice. Synovial chondromatosis most commonly occurs in adults ages 20 to 50. Signs and symptoms may include pain, swelling, a decreased range of motion, and locking of the joint. The exact underlying cause of the condition is unknown. Treatment may involve surgery to remove the tumor. Recurrence of the condition is common.	MESH:D015838|NCIT:C34467|UMLS:C0008476
MONDO:0006435	submandibular gland adenocarcinoma	biolink:Disease	mondo	UMLS:C1336521|EFO:1000554|NCIT:C5940		submandibular gland adenocarcinoma|adenocarcinoma of the submandibular gland|adenocarcinoma of submandibular gland	http://purl.obolibrary.org/obo/MONDO_0006435	An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma.	UMLS:C1336521|NCIT:C5940
MONDO:0006436	submandibular gland adenoid cystic carcinoma	biolink:Disease	mondo	SCTID:423189008|NCIT:C5935|EFO:1000555|UMLS:C1336522		submandibular gland adenoid cystic carcinoma|adenoid cystic carcinoma of the submandibular gland|adenoid cystic carcinoma of submandibular gland	http://purl.obolibrary.org/obo/MONDO_0006436	An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues.	SNOMEDCT:423189008|UMLS:C1336522|NCIT:C5935
MONDO:0006433	obsolete subcutaneous panniculitis-like T-cell lymphoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006433		
MONDO:0006434	obsolete Subependymoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006434		
NCBITaxon:9604	Hominidae	organism taxon	mondo	GC_ID:1		great apes|Pongidae	http://purl.obolibrary.org/obo/NCBITaxon_9604		
MONDO:0006431	obsolete splenic marginal zone lymphoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006431		
NCBITaxon:9605	Homo	organism taxon	mondo	GC_ID:1		humans	http://purl.obolibrary.org/obo/NCBITaxon_9605		
MONDO:0006432	stromal predominant kidney Wilms tumor	biolink:Disease	mondo	NCIT:C9148|DOID:5191|EFO:1000551|UMLS:C0279610		stromal predominant kidney Wilms' tumor|stromal predominant Wilms tumor|stromal predominant renal Wilm's tumor|stromal predominant nephroblastoma|stromal predominant renal Wilms' tumor|stromal predominant renal Wilms tumor|stromal predominant kidney adenosarcoma|stromal predominant kidney Wilms tumor|stromal predominant renal adenosarcoma	http://purl.obolibrary.org/obo/MONDO_0006432	Wilms tumor of the kidney characterized by the predominance of the mesenchymal component.	NCIT:C9148|DOID:5191|UMLS:C0279610
NCBITaxon:9606	Homo sapiens	organism taxon	mondo	GC_ID:1		human|man	http://purl.obolibrary.org/obo/NCBITaxon_9606		
MONDO:0006430	splenic mantle cell lymphoma	biolink:Disease	mondo	EFO:1000549|UMLS:C2018777|NCIT:C7306		splenic mantle cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0006430	A mantle cell lymphoma occurring in the spleen.	UMLS:C2018777|NCIT:C7306
FOODON:00002381	food product by organism	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00002381	A food product consisting of food material derived primarily from a single organism.	
HP:0003367	Abnormal femoral neck morphology	biolink:PhenotypicFeature	mondo	UMLS:C4025621		Abnormality of the femoral neck|Abnormal neck of thigh bone	http://purl.obolibrary.org/obo/HP_0003367	An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).	
MONDO:0018429	14q24.1q24.3 microdeletion syndrome	biolink:Disease	mondo	UMLS:CN226142|Orphanet:401935|ICD10:Q93.5	ordo_malformation_syndrome	monosomy 14q24.1q24.3|Del(14)(q24.1q24.3)	http://purl.obolibrary.org/obo/MONDO_0018429		ORPHA:401935|UMLS:CN226142
HP:0030956	Abnormality of cardiovascular system electrophysiology	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0030956	An anomaly of the electrical conduction physiology of the heart.	
HP:0003366	Abnormal femoral neck/head morphology	biolink:PhenotypicFeature	mondo	UMLS:C4025622		Abnormality of the femoral neck or head region|Abnormal neck or head of thigh bone	http://purl.obolibrary.org/obo/HP_0003366		
MONDO:0018426	AXIN2-related attenuated familial adenomatous polyposis	biolink:Disease	mondo	Orphanet:401911|UMLS:CN226139|ICD10:D12.6	ordo_clinical_subtype	AXIN2-related AFAP|AXIN2-related attenuated FAP|AXIN2-related attenuated familial polyposis coli	http://purl.obolibrary.org/obo/MONDO_0018426		UMLS:CN226139|ORPHA:401911
MONDO:0018425	Huntington disease-like syndrome due to C9ORF72 expansions	biolink:Disease	mondo	ICD10:G10|Orphanet:401901|UMLS:CN226138	ordo_disease	C9ORF72-related Huntington disease phenocopy|Huntington disease phenocopy due to C9ORF72 expansions|C9ORF72-related Huntington disease-like syndrome	http://purl.obolibrary.org/obo/MONDO_0018425		ORPHA:401901|UMLS:CN226138
MONDO:0018428	9q31.1q31.3 microdeletion syndrome	biolink:Disease	mondo	UMLS:CN226140|Orphanet:401923|ICD10:Q93.5	ordo_malformation_syndrome	Del(9)(q31.1q31.3)|monosomy 9q31.1q31.3	http://purl.obolibrary.org/obo/MONDO_0018428		UMLS:CN226140|ORPHA:401923
MONDO:0018427	obsolete fibrolamellar carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018427		
MONDO:0018422	autosomal recessive spastic paraplegia type 70	biolink:Disease	mondo	UMLS:CN226129|Orphanet:401835|ICD10:G11.4	ordo_disease	SPG70	http://purl.obolibrary.org/obo/MONDO_0018422	Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities.	UMLS:CN226129|ORPHA:401835
MONDO:0018421	autosomal recessive spastic paraplegia type 69	biolink:Disease	mondo	ICD10:G11.4|UMLS:CN226128|Orphanet:401830	ordo_disease	SPG69	http://purl.obolibrary.org/obo/MONDO_0018421		ORPHA:401830|UMLS:CN226128
MONDO:0018424	inherited lipoic acid biosynthesis defect	biolink:Disease	mondo	GARD:0012679|ICD10:E88.8|Orphanet:401854	ordo_group_of_disorders	rare inborn error of lipoate biosynthetic process|inborn lipoate biosynthetic process disorder|lipoate biosynthesis defect|lipoic acid biosynthesis defect|rare inborn error of lipoate biosynthetic process|inborn error of lipoate biosynthetic process|lipoic acid biosynthesis defects	http://purl.obolibrary.org/obo/MONDO_0018424	An acquired metabolic disease that is has its basis in the disruption of lipoate biosynthetic process.	ORPHA:401854
MONDO:0018423	autosomal recessive spastic paraplegia type 71	biolink:Disease	mondo	UMLS:CN226130|ICD10:G11.4|Orphanet:401840	ordo_disease	SPG71	http://purl.obolibrary.org/obo/MONDO_0018423		UMLS:CN226130|ORPHA:401840
MONDO:0018420	autosomal recessive spastic paraplegia type 68	biolink:Disease	mondo	Orphanet:401825|UMLS:CN226127|ICD10:G11.4	ordo_disease	SPG68	http://purl.obolibrary.org/obo/MONDO_0018420		UMLS:CN226127|ORPHA:401825
ECTO:0001108	aflatoxin exposure	biolink:OntologyClass	mondo			exposure to aflatoxin	http://purl.obolibrary.org/obo/ECTO_0001108	An exposure to aflatoxin.	
UBERON:0015281	pancreas right lobe	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015281	A pancreatic lobule that is in_the_right_side_of a exocrine pancreas.	
MONDO:0006448	testicular teratoma (disease)	biolink:Disease	mondo	HP:0100616|EFO:1000573|NCIT:C3877		teratoma of testis|teratoma of the testis|testicular teratoma	http://purl.obolibrary.org/obo/MONDO_0006448	A non-seminomatous germ cell tumor arising from the testis. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, testicular teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Testicular teratomas in children follow a benign clinical course whereas in postpubertal patients may metastasize to other anatomic sites.	NCIT:C3877
UBERON:0015280	pancreas left lobe	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015280	A pancreatic lobule that is in_the_left_side_of a exocrine pancreas.	
MONDO:0006449	obsolete testicular yolk sac tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006449		
MONDO:0006446	testicular embryonal carcinoma	biolink:Disease	mondo	UMLS:C0238448|DOID:5680|EFO:1000565|NCIT:C6341		testis embryonal carcinoma|embryonal carcinoma of testis|testicular embryonal carcinoma|embryonal carcinoma of the testis|embryonal testis carcinoma	http://purl.obolibrary.org/obo/MONDO_0006446	A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent.	UMLS:C0238448|DOID:5680|NCIT:C6341
MONDO:0006447	testicular non-seminomatous germ cell tumor	biolink:Disease	mondo	UMLS:C1336724|DOID:4086|UMLS:CN204702|NCIT:C9313|ICD10:C62.1|EFO:1000570|ICDO:9065/3|Orphanet:363494	ordo_disease	non-seminomatous germ cell tumor of testis|testicular germ cell tumor non-seminomatous|testicular non-dysgerminomatous germ cell tumor|testicular non seminomatous germ cell tumor|testicular non-seminomatous germ cell tumor|non-dysgerminomatous germ cell tumor of testis	http://purl.obolibrary.org/obo/MONDO_0006447	A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms.	UMLS:C1336724|UMLS:CN204702|NCIT:C9313|ORPHA:363494|DOID:4086
MONDO:0006444	teratoma with malignant transformation	biolink:Disease	mondo	ICDO:9084/3|GARD:0010646|NCIT:C4289|ONCOTREE:TMT|EFO:1000563|UMLS:C0334523	gard_rare	dermoid cyst with malignant transformation|teratoma with malignant transformation|TMT	http://purl.obolibrary.org/obo/MONDO_0006444	A teratoma which is characterized by morphologic transformation to malignancy and an aggressive clinical course. The malignant component most often is sarcomatous or carcinomatous.	NCIT:C4289|UMLS:C0334523
MONDO:0006445	obsolete testicular choriocarcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006445	A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts.	
MONDO:0006442	tendon sheath fibroma	biolink:Disease	mondo	SCTID:403992002|UMLS:C1275236|NCIT:C6485|ICD9:215.9|EFO:1000561		fibroma of the tendon sheath|fibroma of tendon sheath|tendon sheath fibroma	http://purl.obolibrary.org/obo/MONDO_0006442	A small, slow growing, benign neoplasm arising from the tendon sheaths. The tumor is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation.	SNOMEDCT:403992002|NCIT:C6485|UMLS:C1275236
MONDO:0006443	obsolete tenosynovial giant cell tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006443		
MONDO:0006440	obsolete systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006440		
MONDO:0006441	obsolete T-cell prolymphocytic leukemia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006441		
MONDO:0018419	autosomal recessive spastic paraplegia type 67	biolink:Disease	mondo	Orphanet:401820|SCTID:766767001|UMLS:CN226126|ICD10:G11.4	ordo_disease	SPG67	http://purl.obolibrary.org/obo/MONDO_0018419	Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.	SNOMEDCT:766767001|UMLS:CN226126|ORPHA:401820
MONDO:0018418	autosomal recessive spastic paraplegia type 66	biolink:Disease	mondo	UMLS:CN226125|ICD10:G11.4|Orphanet:401815	ordo_disease	SPG66	http://purl.obolibrary.org/obo/MONDO_0018418		ORPHA:401815|UMLS:CN226125
MONDO:0018415	obsolete hymenolepiasis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018415		
MONDO:0018414	female infertility due to an implantation defect of genetic origin	biolink:Disease	mondo	Orphanet:400025|ICD10:N97.2	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018414		ORPHA:400025
HP:0030962	Abnormal morphology of the great vessels	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0030962	A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta.	
MONDO:0018417	autosomal recessive spastic paraplegia type 60	biolink:Disease	mondo	ICD10:G11.4|UMLS:CN226122|Orphanet:401800	ordo_disease	SPG60	http://purl.obolibrary.org/obo/MONDO_0018417		UMLS:CN226122|ORPHA:401800
MONDO:0018416	autosomal recessive spastic paraplegia type 59	biolink:Disease	mondo	Orphanet:401795|UMLS:CN226121|ICD10:G11.4	ordo_disease	SPG59	http://purl.obolibrary.org/obo/MONDO_0018416		UMLS:CN226121|ORPHA:401795
MONDO:0018411	rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	biolink:Disease	mondo	UMLS:CN227354|Orphanet:400011|ICD10:N97.0	ordo_group_of_disorders|obsoletion_candidate	rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin|genetic rare female infertility due to hypothalamic-pituitary-gonadal axis disorder|rare female infertility due to gonadotropic axis disorder of genetic origin	http://purl.obolibrary.org/obo/MONDO_0018411	An instance of rare female infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome.	ORPHA:400011|UMLS:CN227354
NCBITaxon:31245	Schistosomatidae	organism taxon	mondo	GC_ID:1		blood flukes	http://purl.obolibrary.org/obo/NCBITaxon_31245		
MONDO:0018410	obsolete rare genetic female infertility	biolink:Disease	mondo	UMLS:CN227353|Orphanet:400008	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018410		ORPHA:400008|UMLS:CN227353
MONDO:0018413	female infertility due to an anomaly of ovarian function of genetic origin	biolink:Disease	mondo	Orphanet:400022|ICD10:N97.0|UMLS:CN227356	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0018413		ORPHA:400022|UMLS:CN227356
MONDO:0018412	rare female infertility due to adrenal disorder of genetic origin	biolink:Disease	mondo	Orphanet:400018|UMLS:CN227355	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018412		ORPHA:400018|UMLS:CN227355
NCBITaxon:31244	Schistosomatoidea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_31244		
GO:0043170	macromolecule metabolic process	biolink:OntologyClass	mondo			multicellular organismal macromolecule metabolic process|organismal macromolecule metabolism|biopolymer metabolic process|macromolecule metabolism	http://purl.obolibrary.org/obo/GO_0043170	The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass.	
NCBITaxon:116926	Philophthalmidae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_116926		
NCBITaxon:116925	Troglotremata	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_116925		
GO:0043177	organic acid binding	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0043177	Interacting selectively and non-covalently with an organic acid, any acidic compound containing carbon in covalent linkage.	
UBERON:0005870	olfactory pit	biolink:AnatomicalEntity	mondo			nasal pit	http://purl.obolibrary.org/obo/UBERON_0005870	An indentation of the olfactory placode which ends when the pits hollows out to form the nasopharynx[GO].	
UBERON:0003216	hard palate	biolink:AnatomicalEntity	mondo			palatum durum|hard palate	http://purl.obolibrary.org/obo/UBERON_0003216	Anterior portion of the palate consisting of bone and mucous membranes[GO]. The hard palate is formed from bony processes of the maxilla, premaxilla and palatine[Kardong].	
UBERON:0005879	pharyngeal cleft	biolink:AnatomicalEntity	mondo			pharyngeal slit|pharyngeal groove|branchial cleft|branchial groove|pharyngeal groove ectoderm|gill cleft|Kiemenspalten|sulcus pharyngei|pharyngeal ectodermal cleft	http://purl.obolibrary.org/obo/UBERON_0005879	An external pocketing of pharyngeal ectoderm that contacts a region of endoderm (a pharyngeal pouch) and interdigitates in the anterior and posterior directions by the pharyngeal arches.	
UBERON:0003214	mammary gland alveolus	biolink:AnatomicalEntity	mondo			lobe of breast alveolus|alveolus of lobe of mammary gland|alveolus of mammary gland|lactiferous alveolus|lactiferous gland alveolus|mammary alveoli|mammary alveolus|alveolus of lactiferous gland|lobe of mammary gland alveolus|alveolus of lobe of breast	http://purl.obolibrary.org/obo/UBERON_0003214	A sac-like structure that is found in the mature gland[GO].	
UBERON:0005876	undifferentiated genital tubercle	biolink:AnatomicalEntity	mondo			phallic tubercle|tuberculum genitale|genital tubercle|undifferentiated genital tubercle|tuberculum phallicum	http://purl.obolibrary.org/obo/UBERON_0005876	the embryonic anlage of the external genitalia, which emerges as paired swellings ventral to the cloacal membrane, is proposed to be derived from all three germ layers, and gives rise to the penis, clitoris, scrotum, labia, and foreskin	
UBERON:0003215	alveolus	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0003215	organ part that has the form of a hollow cavity[WP].	
UBERON:0003212	gustatory organ	biolink:AnatomicalEntity	mondo			taste organ|organ of gustatory system|organ of gustatory organ system|organ of taste system|gustatory system organ|gustatory organ system organ|taste system organ	http://purl.obolibrary.org/obo/UBERON_0003212	Any sense organ that functions in (some) detection of chemical stimulus involved in sensory perception of taste (GO:0050912).	
UBERON:0005874	3rd arch pharyngeal cleft	biolink:AnatomicalEntity	mondo			3rd pharyngeal cleft|3rd arch branchial groove|branchial groove of 3rd arch|3rd pharyngeal groove ectoderm|3rd branchial cleft|3rd arch groove ectoderm|3rd pharyngeal groove	http://purl.obolibrary.org/obo/UBERON_0005874	A groove that is situated between the 3rd and 4th pharyngeal arch.	
UBERON:0005873	2nd arch pharyngeal cleft	biolink:AnatomicalEntity	mondo			2nd pharyngeal cleft|branchial groove of 2nd arch|2nd branchial cleft|2nd pharyngeal groove|2nd arch branchial groove|2nd pharyngeal groove ectoderm|2nd arch groove ectoderm	http://purl.obolibrary.org/obo/UBERON_0005873	A groove that is situated between the 2nd and 3rd pharyngeal arch.	
UBERON:0005872	1st arch pharyngeal cleft	biolink:AnatomicalEntity	mondo			1st pharyngeal groove|branchial groove of 1st arch|1st arch branchial groove|1st pharyngeal groove ectoderm|1st arch groove ectoderm|1st pharyngeal cleft|1st branchial cleft	http://purl.obolibrary.org/obo/UBERON_0005872	A groove that is situated between the 1st and 2nd pharyngeal arch.	
UBERON:0005868	maxillary prominence	biolink:AnatomicalEntity	mondo			maxillary process of embryo|maxillary process|embryonic maxillary process|prominentia maxilaris	http://purl.obolibrary.org/obo/UBERON_0005868	the paired dorsal prominences formed by bifurcation of the first pharyngeal arches in the embryo that unite with the ipsilateral medial nasal process to form the upper jaw	
UBERON:0005867	mandibular prominence	biolink:AnatomicalEntity	mondo			mandibular process|prominentia mandibularis|mandibular swelling	http://purl.obolibrary.org/obo/UBERON_0005867	the paired ventral prominences formed by bifurcation of the first pharyngeal arches in the embryo; the two prominences unite ventrally and fuse to form the mandible and lower lip	
UBERON:0005866	pre-cartilage condensation	biolink:AnatomicalEntity	mondo			pre-chondrogenic condensation|precartilagenous condensation|precartilage condensation|prechondrogenic condensation	http://purl.obolibrary.org/obo/UBERON_0005866	A delimited region of dense mesenchyme within looser mesenchyme whose cells are committed to become chondroblasts.	
UBERON:0005865	pre-muscle condensation	biolink:AnatomicalEntity	mondo			pre muscle mass|premuscle mass	http://purl.obolibrary.org/obo/UBERON_0005865		
UBERON:0005863	cartilaginous condensation	biolink:AnatomicalEntity	mondo			cartilagenous condensation|cartilage condensation|chondrogenic condensation	http://purl.obolibrary.org/obo/UBERON_0005863	Cell condensation that is an aggregation of mesenchymal cells that are committed to differentiate into chondroblasts and chondrocytes.	
GO:0080135	regulation of cellular response to stress	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0080135	Any process that modulates the frequency, rate or extent of a cellular response to stress. Cellular response to stress is a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation).	
GO:0080134	regulation of response to stress	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0080134	Any process that modulates the frequency, rate or extent of a response to stress. Response to stress is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation).	
UBERON:0005856	developing mesenchymal condensation	biolink:AnatomicalEntity	mondo			mesenchyme condensation	http://purl.obolibrary.org/obo/UBERON_0005856	A delimited region of dense mesenchyme within looser mesenchyme.	
HGNC:1402	CACNB2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1402		
UBERON:0005855	lumbar spinal cord ventral column	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005855	A subdivision of spinal cord ventral column that is part of a lumbar spinal cord.	
UBERON:0005854	cervical spinal cord ventral column	biolink:AnatomicalEntity	mondo			cervical spinal cord anterior column	http://purl.obolibrary.org/obo/UBERON_0005854	A subdivision of spinal cord ventral column that is part of a cervical spinal cord.	
UBERON:0005853	sacral spinal cord ventral column	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005853	A subdivision of spinal cord ventral column that is part of a sacral spinal cord.	
UBERON:0005852	thoracic spinal cord ventral column	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005852	A subdivision of spinal cord ventral column that is part of a thoracic spinal cord.	
CHEBI:46883	carboxy group	biolink:ChemicalSubstance	mondo			-CO2H|carboxyl group|carboxy|CARBOXY GROUP|-C(O)OH|-COOH	http://purl.obolibrary.org/obo/CHEBI_46883		
UBERON:0005838	fasciculus of brain	biolink:AnatomicalEntity	mondo			brain fasciculus	http://purl.obolibrary.org/obo/UBERON_0005838	A fascicle that is part of a brain.	
HGNC:1406	CACNG2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1406		
UBERON:0005837	fasciculus of spinal cord	biolink:AnatomicalEntity	mondo			spinal cord fasciculus	http://purl.obolibrary.org/obo/UBERON_0005837	A fascicle that is part of a spinal cord.	
HGNC:1404	CACNB4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1404		
HP:0005912	Biliary atresia	biolink:PhenotypicFeature	mondo	MSH:D001656|SNOMEDCT_US:82821008|SNOMEDCT_US:77480004|UMLS:C0005411		Biliary duct atresia	http://purl.obolibrary.org/obo/HP_0005912	Atresia of the biliary tree.	
UBERON:0005845	caudal segment of spinal cord	biolink:AnatomicalEntity	mondo			segmenta coccygea medullae spinalis [1-3]|segmenta coccygea|coccygeal segment of spinal cord|coccygeal segments of spinal cord [1-3]|pars coccygea medullae spinalis	http://purl.obolibrary.org/obo/UBERON_0005845	A spinal cord segment that adjacent_to a caudal region.	
UBERON:0005844	spinal cord segment	biolink:AnatomicalEntity	mondo			spinal neuromeres|axial regional part of spinal cord|segment of spinal cord|axial part of spinal cord	http://purl.obolibrary.org/obo/UBERON_0005844		
UBERON:0005843	sacral spinal cord	biolink:AnatomicalEntity	mondo			segmenta sacralia medullae spinalis [1-5]|pars sacralis medullae spinalis|sacral segments of spinal cord [1-5]|sacral segment of spinal cord	http://purl.obolibrary.org/obo/UBERON_0005843	A spinal cord segment that adjacent_to a sacral region.	
NCBITaxon:31286	Trypanosoma brucei rhodesiense	organism taxon	mondo	GC_ID:1		Trypanosoma brucei subsp. rhodesiense|Trypanosoma (Trypanozoon) brucei rhodesiense	http://purl.obolibrary.org/obo/NCBITaxon_31286		
NCBITaxon:31285	Trypanosoma brucei gambiense	organism taxon	mondo	GC_ID:1		Trypanosoma gambiense|Trypanosoma brucei subsp. gambiense|Trypanosoma (Trypanozoon) brucei gambiense	http://purl.obolibrary.org/obo/NCBITaxon_31285		
UBERON:0015238	pineal complex	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015238	A cluster in the epithalamus that consists of the pineal body and any associated structures, such as the parapineal gland or the parietal organ. The complex is poorly developed in mammals.	
HP:0003307	Hyperlordosis	biolink:PhenotypicFeature	mondo	UMLS:C0024003|SNOMEDCT_US:249710008|MSH:D008141|SNOMEDCT_US:61960001	hposlim_core	Prominent swayback|Lordosis	http://purl.obolibrary.org/obo/HP_0003307	Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine.	
GO:0080154	regulation of fertilization	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0080154	Any process that modulates the rate, frequency or extent of fertilization. Fertilization is the union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy).	
UBERON:0003252	thoracic rib cage	biolink:AnatomicalEntity	mondo			cavea thoracis|cavea thoracis|thoracic cage|rib cage	http://purl.obolibrary.org/obo/UBERON_0003252	Subdivision of skeletal system that consists of all ribs in an organism connected to the sternum and the vertebrae. Some vertebrates have abdominal ribs (gastrialia), not connected to the vertebrate - these are not considered part of the rib case.	
UBERON:0003253	neck of rib	biolink:AnatomicalEntity	mondo			collum costae|collum costae|rib neck	http://purl.obolibrary.org/obo/UBERON_0003253	The neck of the rib is the flattened portion which extends lateralward from the head; it is about 2.5 cm. long, and is placed in front of the transverse process of the lower of the two vertebrC& with which the head articulates. Its anterior surface is flat and smooth, its posterior rough for the attachment of the ligament of the neck, and perforated by numerous foramina. Of its two borders the superior presents a rough crest (crista colli costE) for the attachment of the anterior costotransverse ligament; its inferior border is rounded. On the posterior surface at the junction of the neck and body, and nearer the lower than the upper border, is an eminencebthe tubercle; it consists of an articular and a non-articular portion. The articular portion, the lower and more medial of the two, presents a small, oval surface for articulation with the end of the transverse process of the lower of the two vertebrC& to which the head is connected. The non-articular portion is a rough elevation, and affords attachment to the ligament of the tubercle. The tubercle is much more prominent in the upper than in the lower ribs.	
HGNC:1424	CAD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1424		
UBERON:0003258	endoderm of foregut	biolink:AnatomicalEntity	mondo			foregut endoderm	http://purl.obolibrary.org/obo/UBERON_0003258	An endoderm that is part of a foregut [Automatically generated definition].	
HGNC:1421	SLC25A20	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1421		
UBERON:0003259	endoderm of midgut	biolink:AnatomicalEntity	mondo			midgut endoderm	http://purl.obolibrary.org/obo/UBERON_0003259	An endoderm that is part of a midgut [Automatically generated definition].	
UBERON:0003257	yolk sac endoderm	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0003257	The portion of the yolk sac that is derived from endoderm and lines the yolk sac.	
UBERON:0003254	amniotic ectoderm	biolink:AnatomicalEntity	mondo			amnion ectoderm|amnion epithelium|amnionic ectoderm	http://purl.obolibrary.org/obo/UBERON_0003254		
UBERON:0015228	circulatory organ	biolink:AnatomicalEntity	mondo			circulatory vessel|heart or heart like organ|cardiac pump|heart|cardiac structure	http://purl.obolibrary.org/obo/UBERON_0015228	A hollow, muscular organ, which, by contracting rhythmically, contributes to the circulation of lymph, blood or analogs. Examples: a chambered vertebrate heart; the tubular peristaltic heart of ascidians; the dorsal vessel of an insect; the lymoh heart of a reptile.	
GO:0080144	amino acid homeostasis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0080144	Any process involved in the maintenance of an internal steady state of amino acid within an organism or cell.	
GO:0080145	cysteine homeostasis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0080145	Any process involved in the maintenance of an internal steady state of cysteine within an organism or cell.	
HP:0003312	Abnormal form of the vertebral bodies	biolink:PhenotypicFeature	mondo	UMLS:C1839326		Abnormally shaped vertebrae	http://purl.obolibrary.org/obo/HP_0003312	Abnormal morphology of vertebral body.	
UBERON:0003249	epithelium of otic placode	biolink:AnatomicalEntity	mondo			epithelial tissue of otic placode|otic placode epithelial tissue|otic epithelium|otic placode epithelium	http://purl.obolibrary.org/obo/UBERON_0003249	An epithelium that is part of a otic placode [Automatically generated definition].	
UBERON:0003247	epithelium of forearm	biolink:AnatomicalEntity	mondo			forearm epithelium	http://purl.obolibrary.org/obo/UBERON_0003247	An epithelium that is part of a lower arm [Automatically generated definition].	
UBERON:0003248	epithelium of footplate	biolink:AnatomicalEntity	mondo			foot plate epithelium|footplate epithelium	http://purl.obolibrary.org/obo/UBERON_0003248	An epithelium that is part of a footplate.	
UBERON:0003246	epithelium of endolymphatic sac	biolink:AnatomicalEntity	mondo			epithelial tissue of endolymphatic sac|endolymphatic sac epithelium|endolymphatic sac epithelial tissue	http://purl.obolibrary.org/obo/UBERON_0003246	An epithelium that is part of a endolymphatic sac [Automatically generated definition].	
UBERON:0003244	epithelium of mammary gland	biolink:AnatomicalEntity	mondo			mammary gland epithelium|mammary gland epithelial tissue|epithelium of lactiferous gland|lactiferous gland epithelium|mammary epithelium	http://purl.obolibrary.org/obo/UBERON_0003244	the epithelial layer of the luminal surfaces of the mammary gland	
CHEBI:22881	biopterins	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_22881		
UBERON:0003229	epithelium of elbow	biolink:AnatomicalEntity	mondo			cubital region epithelial tissue|elbow epithelium|epithelial tissue of cubital region|epithelial tissue of elbow|epithelium of cubital region|elbow epithelial tissue|cubital region epithelium	http://purl.obolibrary.org/obo/UBERON_0003229	An epithelium that is part of a elbow [Automatically generated definition].	
UBERON:0015215	median arcuate ligament	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015215	The median arcuate ligament is a ligament under the diaphragm that connects the right and left crura of diaphragm.	
UBERON:0015212	lateral structure	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015212	Any structure that is placed on one side of the left-right axis of a bilaterian.	
UBERON:0015214	arcuate ligament	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015214	A ligament that is part of a diaphragm.	
UBERON:0005893	leg bone	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005893	A bone that is part of the region of the hindlimb that includes the zeugopod and stylopod. Examples: patella, femur, tibia. Counter-examples: any pes phalanx	
UBERON:0003230	epithelium of carpal region	biolink:AnatomicalEntity	mondo			epithelium of wrist|epithelial tissue of wrist|carpal region epithelium|epithelial tissue of carpal region|wrist epithelial tissue|wrist epithelium|carpal region epithelial tissue	http://purl.obolibrary.org/obo/UBERON_0003230	An epithelium that is part of a wrist [Automatically generated definition].	
UBERON:0003231	epithelium of hip	biolink:AnatomicalEntity	mondo			regio coxae epithelial tissue|hip region epithelium|hip region epithelial tissue|regio coxae epithelium|epithelial tissue of hip|epithelium of regio coxae|hip epithelial tissue|hip epithelium|epithelial tissue of hip region|epithelial tissue of regio coxae|epithelium of hip region	http://purl.obolibrary.org/obo/UBERON_0003231	An epithelium that is part of a hip [Automatically generated definition].	
UBERON:0005891	coelomic epithelium	biolink:AnatomicalEntity	mondo			germinal epithelium of Waldeyer|celomic epithelium	http://purl.obolibrary.org/obo/UBERON_0005891	The epithelial lining of the surface of the coelom.	
NCBITaxon:2572558	Ancylostomatoidea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2572558		
HGNC:1445	CALM2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1445		
UBERON:0003236	epithelium of lower jaw	biolink:AnatomicalEntity	mondo			ventral mandibular arch epithelium|epithelium of ventral mandibular arch|epithelial tissue of ventral mandibular arch|epithelial tissue of lower jaw|ventral mandibular arch epithelial tissue|lower jaw epithelial tissue|lower jaw epithelium	http://purl.obolibrary.org/obo/UBERON_0003236	An epithelium that is part of a lower jaw [Automatically generated definition].	
UBERON:0005899	pes bone	biolink:AnatomicalEntity	mondo			bone of pes|bone of pedal skeleton|bone of foor proper or tarsal skeleton|bone of foot|foot bone	http://purl.obolibrary.org/obo/UBERON_0005899	A bone that is part of the pes skeleton	
UBERON:0005897	manus bone	biolink:AnatomicalEntity	mondo			bone of hand skeleton|forelimb autopod bone|bone of hand|bone of manus|bone of pectoral limb autopodium|forelimb autopodium bone|bone of pectoral limb autopod|hand bone	http://purl.obolibrary.org/obo/UBERON_0005897	A bone that is part of the manus skeleton. Note that this includes the carpal bones.	
UBERON:0003235	epithelium of upper jaw	biolink:AnatomicalEntity	mondo			epithelial tissue of upper jaw|epithelium of palatoquadrate arch|upper jaw epithelial tissue|epithelial tissue of palatoquadrate arch|palatoquadrate arch epithelium|palatoquadrate arch epithelial tissue|upper jaw epithelium	http://purl.obolibrary.org/obo/UBERON_0003235	An epithelium that is part of a upper jaw [Automatically generated definition].	
HGNC:1442	CALM1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1442		
UBERON:0003232	epithelium of knee	biolink:AnatomicalEntity	mondo			knee epithelial tissue|epithelial tissue of knee|knee epithelium	http://purl.obolibrary.org/obo/UBERON_0003232	An epithelium that is part of a knee [Automatically generated definition].	
UBERON:0003233	epithelium of shoulder	biolink:AnatomicalEntity	mondo			epithelial tissue of shoulder|shoulder epithelial tissue|shoulder epithelium	http://purl.obolibrary.org/obo/UBERON_0003233	An epithelium that is part of a shoulder [Automatically generated definition].	
HGNC:1440	CALCR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1440		
NCBITaxon:2559587	Riboviria	organism taxon	mondo	GC_ID:1		RNA viruses|RNA viruses and viroids	http://purl.obolibrary.org/obo/NCBITaxon_2559587		
UBERON:0003218	ovary septum	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0003218	Septum that divides the ovary, the basal portion of a carpel or group of fused carpels, that encloses the ovule(s)[GO].	
UBERON:0003220	metanephric mesenchyme	biolink:AnatomicalEntity	mondo			metanephros associated mesenchyme|metanephrogenic mesenchyme|metanephric blastema|metanephric mesoderm	http://purl.obolibrary.org/obo/UBERON_0003220	one of the two embryological structures that give rise to the kidney (the other is the ureteric bud). The metanephric blastema mostly develops into nephrons, but can also form parts of the collecting duct system.[WP]. Metanephric mesenchyme is the tissue made up of loosely connected mesenchymal cells in the metanephros[GO]	
UBERON:0005881	autopodial extension	biolink:AnatomicalEntity	mondo			limb outgrowth|digit or predigit	http://purl.obolibrary.org/obo/UBERON_0005881	A subdivision of the autopod that corresponds to one or more bones arranged in series branching from the main limb axis.	
HGNC:1455	CALR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1455		
UBERON:0003221	phalanx	biolink:AnatomicalEntity	mondo			phalanges|digit long bone|phalange|long bone of digit|phalanx bone	http://purl.obolibrary.org/obo/UBERON_0003221	Endochondral bones that are often elongate and arranged in rows of articulating elements, and form the visible part of the digits.	
UBERON:0005884	hyoid arch skeleton	biolink:AnatomicalEntity	mondo			hyocïde@fr|hyoid arch skeleton|hyal@fr|pharyngeal arch 2 skeleton|hyoid bars|visceral arch 2|hyoid arch	http://purl.obolibrary.org/obo/UBERON_0005884	A subdivision of skeleton that supports pharyngeal arch 2.	
MONDO:0043283	silicosiderosis	biolink:Disease	mondo	EFO:1001855|SCTID:34004002|UMLS:C0018929|GARD:0008372|MESH:C537337	gard_rare	hematite pneumoconiosis|iron miners lung|hematite miners' lung disease|siderosilicosis|silicosiderosis	http://purl.obolibrary.org/obo/MONDO_0043283		UMLS:C0018929|SNOMEDCT:34004002|MESH:C537337
GO:0031348	negative regulation of defense response	biolink:OntologyClass	mondo			downregulation of defense response|down regulation of defense response|inhibition of defense response|down-regulation of defense response	http://purl.obolibrary.org/obo/GO_0031348	Any process that stops, prevents, or reduces the frequency, rate or extent of a defense response.	
HGNC:18194	ZNF365	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18194		
GO:0031349	positive regulation of defense response	biolink:OntologyClass	mondo			up regulation of defense response|stimulation of defense response|up-regulation of defense response|activation of defense response|upregulation of defense response	http://purl.obolibrary.org/obo/GO_0031349	Any process that activates or increases the frequency, rate or extent of a defense response.	
MONDO:0043280	Wallerian degeneration	biolink:Disease	mondo	NCIT:C85223|MESH:D014855|GARD:0007875	gard_rare	Degeneration, Wallerian|Wallerian Degeneration|Wallerian degeneration of the pyramidal tract	http://purl.obolibrary.org/obo/MONDO_0043280	A condition caused by degeneration, atrophy, and destruction of the distal part of a nerve fiber's axon and myelin, when continuity with the neural cell nucleus has been severed due to injury. Signs and symptoms include muscle weakness, altered sensation, and limb numbness.	MESH:D014855|NCIT:C85223
GO:0031346	positive regulation of cell projection organization	biolink:OntologyClass	mondo			positive regulation of cell projection organisation|upregulation of cell projection organization|positive regulation of cell projection organization and biogenesis|up regulation of cell projection organization|stimulation of cell projection organization|up-regulation of cell projection organization|activation of cell projection organization	http://purl.obolibrary.org/obo/GO_0031346	Any process that activates or increases the frequency, rate or extent of the process involved in the formation, arrangement of constituent parts, or disassembly of cell projections.	
GO:0031347	regulation of defense response	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0031347	Any process that modulates the frequency, rate or extent of a defense response.	
NCBITaxon:2560547	La Crosse orthobunyavirus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2560547		
GO:0045995	regulation of embryonic development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0045995	Any process that modulates the frequency, rate or extent of embryonic development.	
GO:0045992	negative regulation of embryonic development	biolink:OntologyClass	mondo			down regulation of embryonic development|downregulation of embryonic development|inhibition of embryonic development|down-regulation of embryonic development	http://purl.obolibrary.org/obo/GO_0045992	Any process that stops, prevents, or reduces the frequency, rate or extent of embryonic development.	
MONDO:0043287	superior vena cava syndrome	biolink:Disease	mondo	SCTID:63363004|MESH:D013479|GARD:0009264|NCIT:C3396	gard_rare	SVC syndrome|superior vena cava syndrome|SVC obstruction|SVCS|superior vena cava thrombosis|superior vena cava obstruction	http://purl.obolibrary.org/obo/MONDO_0043287	Obstruction of the blood flow in the superior vena cava caused by a malignant neoplasm, thrombosis, or aneurysm. It is a medical emergency requiring immediate treatment. Signs and symptoms include swelling and cyanosis of the face, neck, and upper arms, cough, orthopnea, and headache.	SNOMEDCT:63363004|NCIT:C3396|MESH:D013479
GO:0006390	mitochondrial transcription	biolink:OntologyClass	mondo			transcription from mitochondrial promoter	http://purl.obolibrary.org/obo/GO_0006390	The synthesis of RNA from a mitochondrial DNA template, usually by a specific mitochondrial RNA polymerase.	
GO:0031344	regulation of cell projection organization	biolink:OntologyClass	mondo			regulation of cell projection organisation|regulation of cell projection organization and biogenesis	http://purl.obolibrary.org/obo/GO_0031344	Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell projections.	
GO:0031345	negative regulation of cell projection organization	biolink:OntologyClass	mondo			down regulation of cell projection organization|inhibition of cell projection organization|down-regulation of cell projection organization|negative regulation of cell projection organization and biogenesis|downregulation of cell projection organization|negative regulation of cell projection organisation	http://purl.obolibrary.org/obo/GO_0031345	Any process that stops, prevents, or reduces the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell projections.	
GO:0031342	negative regulation of cell killing	biolink:OntologyClass	mondo			down regulation of cell killing|inhibition of cell killing|down-regulation of cell killing|downregulation of cell killing	http://purl.obolibrary.org/obo/GO_0031342	Any process that stops, prevents, or reduces the frequency, rate or extent of cell killing.	
GO:0031343	positive regulation of cell killing	biolink:OntologyClass	mondo			upregulation of cell killing|up regulation of cell killing|stimulation of cell killing|activation of cell killing|up-regulation of cell killing	http://purl.obolibrary.org/obo/GO_0031343	Any process that activates or increases the frequency, rate or extent of cell killing.	
GO:0031341	regulation of cell killing	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0031341	Any process that modulates the frequency, rate or extent of cell killing, the process in which a cell brings about the death of another cell, either in the same or a different organism.	
MONDO:0043294	linear scleroderma	biolink:Disease	mondo	SCTID:22784002|NCIT:C116780|GARD:0009513	gard_rare	en coup de sabre|Scleroderma, linear|linear Scleroderma|linear morphea|linear scleroderma	http://purl.obolibrary.org/obo/MONDO_0043294	A type of localized scleroderma characterized by a long strip of indurated skin, which is typically found unilaterally on an arm or leg, and sometimes on the forehead or trunk. This disorder often affects the tissues beneath the skin, causing damage to bones, muscle or other organs. It can limit movement, alter growth, and disfigure the affected area.	NCIT:C116780|SNOMEDCT:22784002
GO:0031337	positive regulation of sulfur amino acid metabolic process	biolink:OntologyClass	mondo			upregulation of sulfur amino acid metabolic process|up-regulation of sulfur amino acid metabolic process|up regulation of sulfur amino acid metabolic process|activation of sulfur amino acid metabolic process|positive regulation of sulfur amino acid metabolism|stimulation of sulfur amino acid metabolic process	http://purl.obolibrary.org/obo/GO_0031337	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving sulfur amino acids.	
MONDO:0043291	Rokitansky-Aschoff sinuses of the gallbladder	biolink:Disease	mondo	SCTID:22149007|UMLS:C0267892|MESH:C535869|GARD:0009419	gard_rare	intramural diverticulosis of the gallbladder|Aschoff-Rokitansky sinuses|Rokitansky-Aschoff sinuses	http://purl.obolibrary.org/obo/MONDO_0043291	An abnormality characterized by macroscopic or microscopic outpouchings of gallbladder mucosa into the muscle of the gallbladder wall. It may be associated with cholecystitis or gallstones.	UMLS:C0267892|SNOMEDCT:22149007|MESH:C535869
GO:0031335	regulation of sulfur amino acid metabolic process	biolink:OntologyClass	mondo			regulation of sulfur amino acid metabolism	http://purl.obolibrary.org/obo/GO_0031335	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving sulfur amino acids.	
GO:0031336	negative regulation of sulfur amino acid metabolic process	biolink:OntologyClass	mondo			down-regulation of sulfur amino acid metabolic process|down regulation of sulfur amino acid metabolic process|downregulation of sulfur amino acid metabolic process|inhibition of sulfur amino acid metabolic process|negative regulation of sulfur amino acid metabolism	http://purl.obolibrary.org/obo/GO_0031336	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving sulfur amino acids.	
MONDO:0043297	vibrio vulnificus infectious disease	biolink:Disease	mondo	GARD:0009584|UMLS:C1274377|MESH:C536348|SCTID:402965002	gard_rare	Vibrio vulnificus infectious disease|vibrio vulnificus infectious disease|Vibrio vulnificus caused disease or disorder|Vibrio vulnificus disease or disorder|vibrio vulnificus infection	http://purl.obolibrary.org/obo/MONDO_0043297	An disease or disorder caused by infection with Vibrio vulnificus.	UMLS:C1274377|SNOMEDCT:402965002|MESH:C536348
GO:0006396	RNA processing	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0006396	Any process involved in the conversion of one or more primary RNA transcripts into one or more mature RNA molecules.	
GO:0031333	negative regulation of protein-containing complex assembly	biolink:OntologyClass	mondo			downregulation of protein complex assembly|down regulation of protein complex assembly|inhibition of protein complex assembly|down-regulation of protein complex assembly|negative regulation of protein complex assembly	http://purl.obolibrary.org/obo/GO_0031333	Any process that stops, prevents, or reduces the frequency, rate or extent of protein complex assembly.	
GO:0031334	positive regulation of protein-containing complex assembly	biolink:OntologyClass	mondo			stimulation of protein complex assembly|up-regulation of protein complex assembly|positive regulation of protein complex assembly|activation of protein complex assembly|upregulation of protein complex assembly|up regulation of protein complex assembly	http://purl.obolibrary.org/obo/GO_0031334	Any process that activates or increases the frequency, rate or extent of protein complex assembly.	
GO:0031331	positive regulation of cellular catabolic process	biolink:OntologyClass	mondo			upregulation of cellular catabolic process|positive regulation of cellular breakdown|up regulation of cellular catabolic process|stimulation of cellular catabolic process|up-regulation of cellular catabolic process|activation of cellular catabolic process|positive regulation of cellular catabolism|positive regulation of cellular degradation	http://purl.obolibrary.org/obo/GO_0031331	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells.	
GO:0033993	response to lipid	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0033993	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus.	
GO:0031330	negative regulation of cellular catabolic process	biolink:OntologyClass	mondo			down regulation of cellular catabolic process|negative regulation of cellular catabolism|inhibition of cellular catabolic process|down-regulation of cellular catabolic process|negative regulation of cellular degradation|downregulation of cellular catabolic process|negative regulation of cellular breakdown	http://purl.obolibrary.org/obo/GO_0031330	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells.	
GO:0031328	positive regulation of cellular biosynthetic process	biolink:OntologyClass	mondo			up-regulation of cellular biosynthetic process|positive regulation of cellular anabolism|up regulation of cellular biosynthetic process|activation of cellular biosynthetic process|positive regulation of cellular biosynthesis|positive regulation of cellular synthesis|stimulation of cellular biosynthetic process|positive regulation of cellular formation|upregulation of cellular biosynthetic process	http://purl.obolibrary.org/obo/GO_0031328	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells.	
SO:0002122	immunoglobulin_gene	biolink:SequenceFeature	mondo			IG_genes|All_IG_genes	http://purl.obolibrary.org/obo/SO_0002122	A germline immunoglobulin  gene.	
GO:0031329	regulation of cellular catabolic process	biolink:OntologyClass	mondo			regulation of cellular breakdown|regulation of cellular degradation|regulation of cellular catabolism	http://purl.obolibrary.org/obo/GO_0031329	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells.	
GO:0031326	regulation of cellular biosynthetic process	biolink:OntologyClass	mondo			regulation of cellular anabolism|regulation of cellular synthesis|regulation of cellular biosynthesis|regulation of cellular formation	http://purl.obolibrary.org/obo/GO_0031326	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells.	
HGNC:18171	CD244	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18171		
GO:0031327	negative regulation of cellular biosynthetic process	biolink:OntologyClass	mondo			downregulation of cellular biosynthetic process|inhibition of cellular biosynthetic process|negative regulation of cellular synthesis|negative regulation of cellular formation|down-regulation of cellular biosynthetic process|negative regulation of cellular biosynthesis|down regulation of cellular biosynthetic process|negative regulation of cellular anabolism	http://purl.obolibrary.org/obo/GO_0031327	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells.	
SO:0002121	vertebrate_immune_system_gene	biolink:SequenceFeature	mondo			immune_gene	http://purl.obolibrary.org/obo/SO_0002121	The configuration of the  IG and TR variable (V), diversity (D) and joining (J) germline genes before DNA rearrangements  (with or without constant (C) genes in undefined configuration. (germline, non rearranged regions of the IG DNA loci).	
GO:0031324	negative regulation of cellular metabolic process	biolink:OntologyClass	mondo			inhibition of cellular metabolic process|down-regulation of cellular metabolic process|downregulation of cellular metabolic process|negative regulation of cellular metabolism|down regulation of cellular metabolic process	http://purl.obolibrary.org/obo/GO_0031324	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances.	
GO:0031325	positive regulation of cellular metabolic process	biolink:OntologyClass	mondo			upregulation of cellular metabolic process|up regulation of cellular metabolic process|positive regulation of cellular metabolism|stimulation of cellular metabolic process|up-regulation of cellular metabolic process|activation of cellular metabolic process	http://purl.obolibrary.org/obo/GO_0031325	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances.	
GO:0006366	transcription by RNA polymerase II	biolink:OntologyClass	mondo			gene-specific transcription from RNA polymerase II promoter|RNA polymerase II transcription factor activity|general transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription from Pol II promoter|specific transcription from RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_0006366	The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs).	
GO:0031323	regulation of cellular metabolic process	biolink:OntologyClass	mondo			regulation of cellular metabolism	http://purl.obolibrary.org/obo/GO_0031323	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances.	
HGNC:18179	VPS33A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18179		
MONDO:0018293	congenital disorder of glycosylation with skin involvement	biolink:Disease	mondo	Orphanet:371200|ICD10:E77.8	ordo_group_of_disorders	CDG with skin involvement	http://purl.obolibrary.org/obo/MONDO_0018293		ORPHA:371200
MONDO:0018292	congenital disorder of glycosylation-related bone disorder	biolink:Disease	mondo	Orphanet:371195|ICD10:E77.8	ordo_group_of_disorders	CDG-related bone disorder	http://purl.obolibrary.org/obo/MONDO_0018292		ORPHA:371195
CHEBI:44185	methotrexate	biolink:ChemicalSubstance	mondo			Emtexate|METHOTREXATE|Methotrexate|MTX|Trexall|methotrexatum|methotrexate|N-(4-{[(2,4-diaminopteridin-6-yl)methyl](methyl)amino}benzoyl)-L-glutamic acid|Rheumatrex|Ledertrexate|metotrexato|N-[4-[[(2,4-diamino-6-pteridinyl)methyl]methylamino]benzoyl]-L-glutamic acid|4-amino-N(10)-methylpteroylglutamic acid|4-amino-10-methylfolic acid	http://purl.obolibrary.org/obo/CHEBI_44185		
HGNC:18187	SIAE	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18187		
MONDO:0018295	congenital disorder of glycosylation with deafness as a major feature	biolink:Disease	mondo	Orphanet:371212|ICD10:E77.8	ordo_group_of_disorders|obsoletion_candidate	CDG with deafness as a major feature	http://purl.obolibrary.org/obo/MONDO_0018295		ORPHA:371212
MONDO:0018294	congenital disorder of glycosylation with nephropathy as a major feature	biolink:Disease	mondo	Orphanet:371207|ICD10:E77.8	ordo_group_of_disorders|obsoletion_candidate	CDG with nephropathy as a major feature	http://purl.obolibrary.org/obo/MONDO_0018294		ORPHA:371207
HGNC:18183	GIPC3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18183		
MONDO:0018291	congenital disorder of glycosylation with intestinal involvement	biolink:Disease	mondo	Orphanet:371188|ICD10:E77.8	ordo_group_of_disorders	CDG with intestinal involvement	http://purl.obolibrary.org/obo/MONDO_0018291		ORPHA:371188
MONDO:0018290	congenital disorder of glycosylation with cardiac malformation as a major feature	biolink:Disease	mondo	Orphanet:371183|ICD10:E77.8	obsoletion_candidate|ordo_group_of_disorders	CDG with cardiac malformation as a major feature	http://purl.obolibrary.org/obo/MONDO_0018290		ORPHA:371183
GO:0043368	positive T cell selection	biolink:OntologyClass	mondo			positive T-cell selection|positive T lymphocyte selection|positive T-lymphocyte selection	http://purl.obolibrary.org/obo/GO_0043368	The process of sparing immature T cells which react with self-MHC protein complexes with low affinity levels from apoptotic death.	
MONDO:0018297	hypotonia-speech impairment-severe cognitive delay syndrome	biolink:Disease	mondo	UMLS:CN204877|Orphanet:371364|ICD10:Q87.8	ordo_disease	infantile hypotonia-psychomotor retardation-characteristic facies syndrome|IHPRF syndrome	http://purl.obolibrary.org/obo/MONDO_0018297	Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip).	ORPHA:371364|UMLS:CN204877
MONDO:0018296	congenital disorder of glycosylation with developmental anomaly	biolink:Disease	mondo	Orphanet:371235|ICD10:E77.8|GARD:0012782	gard_rare|ordo_group_of_disorders	CDG with developmental anomaly	http://purl.obolibrary.org/obo/MONDO_0018296		ORPHA:371235
MONDO:0018299	obsolete sphingolipidosis with epilepsy	biolink:Disease	mondo	Orphanet:371442	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018299		ORPHA:371442
MONDO:0018298	multicentric osteolysis-nodulosis-arthropathy spectrum	biolink:Disease	mondo	SCTID:716868003|ICD10:Q85.9|UMLS:CN227313|Orphanet:371428	ordo_disease	mona spectrum	http://purl.obolibrary.org/obo/MONDO_0018298	Multicentric osteolysis-nodulosis-arthropathy (MONA) spectrum is a rare genetic chronic skeletal disorder characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations.	UMLS:CN227313|SNOMEDCT:716868003|ORPHA:371428
HGNC:18153	TNFRSF13B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18153		
MONDO:0043240	hemophilic arthropathy	biolink:Disease	mondo	SCTID:80813006|GARD:0006592|NCIT:C27039|UMLS:C0263725	gard_rare	arthropathy in hemophilia|hemophilic arthropathy|hemophilic arthritis	http://purl.obolibrary.org/obo/MONDO_0043240	A form of arthritis that affects hemophiliacs, which is characterized by bleeding into the joint space.	NCIT:C27039|SNOMEDCT:80813006|UMLS:C0263725
GO:0031304	intrinsic component of mitochondrial inner membrane	biolink:OntologyClass	mondo			intrinsic to mitochondrial inner membrane	http://purl.obolibrary.org/obo/GO_0031304	The component of the mitochondrial inner membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane.	
GO:0031305	integral component of mitochondrial inner membrane	biolink:OntologyClass	mondo			integral to mitochondrial inner membrane	http://purl.obolibrary.org/obo/GO_0031305	The component of the mitochondrial inner membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.	
HGNC:18150	MYO18B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18150		
MONDO:0043247	Mallory-Weiss syndrome	biolink:Disease	mondo	GARD:0006967|UMLS:C0024633|SCTID:35265002|NCIT:C84881|MESH:D008309	gard_rare	mucosal lacerations - gastroesophageal junction|Lacerations-gastroesophageal junction, mucosal|mucosal Lacerations gastroesophageal junction|Mallory Weiss laceration|junction, mucosal Lacerations-gastroesophageal|gastro-esophageal laceration-hemorrhage syndrome|syndrome, Mallory-Weiss|Lacerations-gastroesophageal junctions, mucosal|Mallory-Weiss laceration|gastroesophageal laceration-hemorrhage syndrome|laceration-hemorrhages, gastroesophageal|junctions, mucosal Lacerations-gastroesophageal|laceration-hemorrhage, gastroesophageal|Mallory-Weiss syndrome|Mallory Weiss tear|gastroesophageal laceration hemorrhage|Mallory Weiss syndrome|laceration, Mallory-Weiss|mucosal Lacerations-gastroesophageal junctions|gastroesophageal laceration-hemorrhage|mucosal Lacerations-gastroesophageal junction|Mallory-Weiss tear|gastroesophageal laceration-hemorrhages	http://purl.obolibrary.org/obo/MONDO_0043247	A disorder characterized by upper gastrointestinal tract bleeding caused by longitudinal mucosal tears in the gastroesophageal junction. The tears result from retching or forceful coughing. It was initially described in alcoholics.	MESH:D008309|UMLS:C0024633|SNOMEDCT:35265002|NCIT:C84881
MONDO:0043243	leukoplakia	biolink:Disease	mondo	NCIT:C3186|SCTID:274134003|MESH:D007971|GARD:0006897|UMLS:C0023531	gard_rare	leukoplakias|leukoplakic lesions|keratotic plaque|leukoplakia|leukoplakic lesion|lesion, leukoplakic|leukokeratoses|leukokeratosis|lesions, leukoplakic	http://purl.obolibrary.org/obo/MONDO_0043243	A white patch or plaque on a mucous membrane that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition.	MESH:D007971|UMLS:C0023531|NCIT:C3186|SNOMEDCT:274134003
GO:0031300	intrinsic component of organelle membrane	biolink:OntologyClass	mondo			intrinsic to organelle membrane	http://purl.obolibrary.org/obo/GO_0031300	The component of the organelle membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane.	
GO:0031301	integral component of organelle membrane	biolink:OntologyClass	mondo			integral to organelle membrane	http://purl.obolibrary.org/obo/GO_0031301	The component of the organelle membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.	
GO:0070991	medium-chain-acyl-CoA dehydrogenase activity	biolink:OntologyClass	mondo			MCAD activity	http://purl.obolibrary.org/obo/GO_0070991	Catalysis of the reaction: acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor, where the acyl group is a medium-chain fatty acid residue. A medium chain fatty acid is any fatty acid with a chain length of between C6 and C12.	
MONDO:0043251	odontoma	biolink:Disease	mondo	GARD:0007247|ICDO:9280/0|NCIT:C3287|MESH:D009810	gard_rare	odontoma|ameloblastic fibro-odontomas|fibroodontomas|odontoma, compound|fibro odontoma, ameloblastic|fibroodontoma|odontomas|odontoma, benign|fibro-odontomas|odontomas, compound|ameloblastic fibro-odontoma|fibro-odontoma, ameloblastic|compound odontomas|fibro-odontomas, ameloblastic|compound odontoma|fibro odontoma|fibro-odontoma	http://purl.obolibrary.org/obo/MONDO_0043251	A benign, slow growing, and painless hamartomatous tumor occurring in tooth-bearing areas of the jaws. According to the presence or absence of tooth-like structures, it is classified as complex type or compound type. Odontoma of complex type is characterized by the presence of enamel and dentin and the absence of tooth-like structures. It is treated with local excision. If it is incompletely removed, it may recur. Odontoma of compound type is characterized by the presence of tooth-like structures. It is treated by local excision. Recurrences have not been reported.	NCIT:C3287|MESH:D009810
HP:0040069	Abnormal lower limb bone morphology	biolink:PhenotypicFeature	mondo	UMLS:C4022457|UMLS:C4022455		Abnormal morphology of bones of the lower limbs|Abnormal shape of bones of the lower limbs|Abnormality of lower limb bone	http://purl.obolibrary.org/obo/HP_0040069		
GO:0006357	regulation of transcription by RNA polymerase II	biolink:OntologyClass	mondo			global transcription regulation from Pol II promoter|regulation of global transcription from Pol II promoter|regulation of gene-specific transcription from RNA polymerase II promoter|regulation of transcription from Pol II promoter|regulation of transcription from RNA polymerase II promoter, global|regulation of transcription from RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_0006357	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.	
GO:0043388	positive regulation of DNA binding	biolink:OntologyClass	mondo			stimulation of DNA binding|upregulation of DNA binding|up-regulation of DNA binding|up regulation of DNA binding|activation of DNA binding	http://purl.obolibrary.org/obo/GO_0043388	Any process that increases the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid).	
MONDO:0043257	pemphigus and fogo selvagem	biolink:Disease	mondo	HGNC:3048|MESH:C535551|SCTID:46459009|GARD:0007353|UMLS:C0263314	gard_rare	FS|amendola's syndrome|Brazilian pemphigus foliaceus|Brazilian pemphigus|wild fire|wildfire pemphigus|endemic pemphigus foliaceus|fogo selvagem|South American pemphigus	http://purl.obolibrary.org/obo/MONDO_0043257		MESH:C535551|UMLS:C0263314|SNOMEDCT:46459009
GO:0006355	regulation of transcription, DNA-templated	biolink:OntologyClass	mondo			transcriptional control|regulation of cellular transcription, DNA-dependent|regulation of transcription, DNA-dependent|regulation of gene-specific transcription	http://purl.obolibrary.org/obo/GO_0006355	Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.	
GO:0006351	transcription, DNA-templated	biolink:OntologyClass	mondo			cellular transcription|DNA-dependent transcription|cellular transcription, DNA-dependent|transcription regulator activity|transcription|transcription, DNA-dependent	http://purl.obolibrary.org/obo/GO_0006351	The cellular synthesis of RNA on a template of DNA.	
GO:0043384	pre-T cell receptor complex	biolink:OntologyClass	mondo			pre-T-lymphocyte receptor complex|pre-TCR complex|pre-T lymphocyte receptor complex|pre-T-cell receptor complex	http://purl.obolibrary.org/obo/GO_0043384	A receptor complex found on immature T cells consisting of a T cell receptor beta chain and the pre-TCR-alpha chain, along with additional signaling components including CD3 family members and additional signaling proteins.	
MONDO:0043254	papular urticaria	biolink:Disease	mondo	MESH:C537169|GARD:0007322|SCTID:55608001	gard_rare	urticaria papulosa of hebra|lichen urticatus|prurigo simplex|strophulus|bullous papular urticaria - type|papular urticaria	http://purl.obolibrary.org/obo/MONDO_0043254		SNOMEDCT:55608001|MESH:C537169
HP:0040064	Abnormality of limbs	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:445144002|UMLS:C4073131|UMLS:C0239337		Abnormal limbs|Limb anomaly|Abnormality of limbs|Dysmelia	http://purl.obolibrary.org/obo/HP_0040064		
HP:0040068	Abnormality of limb bone	biolink:PhenotypicFeature	mondo	UMLS:C4022456		Abnormality of limb bone	http://purl.obolibrary.org/obo/HP_0040068		
HGNC:18169	FKBP10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18169		
HP:0040066	obsolete Abnormal morphology of bones of the lower limbs	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0040066		
GO:0043393	regulation of protein binding	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0043393	Any process that modulates the frequency, rate or extent of protein binding.	
GO:0043392	negative regulation of DNA binding	biolink:OntologyClass	mondo			down regulation of DNA binding|downregulation of DNA binding|inhibition of DNA binding|down-regulation of DNA binding	http://purl.obolibrary.org/obo/GO_0043392	Any process that stops or reduces the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid).	
HGNC:18130	SYCP3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18130		
GO:0006323	DNA packaging	biolink:OntologyClass	mondo			DNA condensation|DNA organisation|DNA organization	http://purl.obolibrary.org/obo/GO_0006323	Any process in which DNA and associated proteins are formed into a compact, orderly structure.	
MONDO:0043267	rheumatoid vasculitis	biolink:Disease	mondo	GARD:0007577|SCTID:400054000|MESH:D056653|UMLS:C0240903	gard_rare	vasculitis, rheumatoid|Vasculitides, rheumatoid|rheumatoid Vasculitides|rheumatoid vasculitis	http://purl.obolibrary.org/obo/MONDO_0043267	Necrotizing VASCULITIS of small and medium size vessels, developing as a complication in RHEUMATOID ARTHRITIS patients. It is characterized by peripheral vascular lesions, cutaneous ulcers, peripheral gangrene, and mononeuritis multiplex.	UMLS:C0240903|MESH:D056653|SNOMEDCT:400054000
FOODON:03412409	coelenterate	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03412409	*Coelenterata* is an obsolete term encompassing the animal phyla *Cnidaria* (coral animals, true jellies, sea anemones, sea pens, and their allies) and *Ctenophora* (comb jellies).  [https://en.wikipedia.org/wiki/Coelenterata]	
MONDO:0043264	post-traumatic epilepsy	biolink:Disease	mondo	GARD:0007437|SCTID:75023009|MESH:D004834|UMLS:C0751126	gard_rare	Epilepsies, post-traumatic|seizure, late post-traumatic|post-traumatic seizures, early|concussive convulsion|late post traumatic seizures|PTE - post-traumatic epilepsy|impact seizure|convulsions, concussive|epilepsy, post traumatic|late post-traumatic seizure|post-traumatic seizure, late|seizures, early post-traumatic|seizure disorder, post-traumatic|early post traumatic seizures|post-traumatic epilepsy|late post-traumatic seizures|impact seizures|convulsion, concussive|concussive convulsions|seizure disorders, post-traumatic|disorders, post-traumatic seizure|Epilepsies, traumatic|traumatic epilepsy|seizure disorder, post traumatic|early post-traumatic seizures|traumatic Epilepsies|epilepsy, traumatic|disorder, post-traumatic seizure|post traumatic seizure disorder|post-traumatic seizure disorders|seizures, late post-traumatic|post-traumatic Epilepsies|seizure, early post-traumatic|post-traumatic seizure disorder|post-traumatic seizure, early|post-traumatic seizures, late|early post-traumatic seizure	http://purl.obolibrary.org/obo/MONDO_0043264	Recurrent seizures causally related to CRANIOCEREBRAL TRAUMA. Seizure onset may be immediate but is typically delayed for several days after the injury and may not occur for up to two years. The majority of seizures have a focal onset that correlates clinically with the site of brain injury. Cerebral cortex injuries caused by a penetrating foreign object (CRANIOCEREBRAL TRAUMA, PENETRATING) are more likely than closed head injuries (HEAD INJURIES, CLOSED) to be associated with epilepsy. Concussive convulsions are nonepileptic phenomena that occur immediately after head injury and are characterized by tonic and clonic movements. (From Rev Neurol 1998 Feb;26(150):256-261; Sports Med 1998 Feb;25(2):131-6)	SNOMEDCT:75023009|MESH:D004834|UMLS:C0751126
HGNC:33778	MYMK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/33778		
HP:0040075	Hypopituitarism	biolink:PhenotypicFeature	mondo	UMLS:C0020635|MSH:D007018|SNOMEDCT_US:74728003			http://purl.obolibrary.org/obo/HP_0040075		
HP:0040077	obsolete Abnormal concentration of calcium in blood	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0040077		
HGNC:18141	DCDC2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18141		
MONDO:0043275	TORCH syndrome	biolink:Disease	mondo	UMLS:C0270173|GARD:0007781|NCIT:C98609|SCTID:41679006	gard_rare	TORCH infection|toxoplasmosis, other infections, rubella, cytomegalovirus, and herpes simplex virus syndrome|torch syndrome|toxoplasmosis, other infections, rubella, cytomegalovirus, and herpes simplex virus (torch) syndrome|toxoplasmosis, Other infections, Rubella, Cytomegalovirus, and Herpes simplex Virus (TORCH) syndrome|Toxoplasma, rubella, cytomegalovirus and herpes simplex mixed infection|TORCH syndrome	http://purl.obolibrary.org/obo/MONDO_0043275	A syndrome that results from a group of infections that affect the fetus or the newborn. The group of infections includes Toxoplasma gondii, rubella, cytomegalovirus, herpes simplex virus, and other infections. The other infections include varicella-zoster virus, hepatitis B virus, human immunodeficiency virus, parvovirus B19, and syphilis. Signs and symptoms include fever, feeding difficulties, petechial rash, jaundice, hepatosplenomegaly, chorioretinitis, and microcephaly.	NCIT:C98609|SNOMEDCT:41679006|UMLS:C0270173
MONDO:0043277	mosaic trisomy 6	biolink:Disease	mondo	SCTID:205647005|GARD:0007815|NCIT:C36475	gard_rare	trisomy 6 mosaicism|trisomy 6	http://purl.obolibrary.org/obo/MONDO_0043277	Trisomy 6 is a rare prenatal finding. Trisomy 6 conceptions have not been observed in the large case reports of chromosomal mosaicism detected during chorionic villus sampling (Hahnemann & Vejerslev 1997).	NCIT:C36475|SNOMEDCT:205647005
CHEBI:32178	Talc	biolink:ChemicalSubstance	mondo			Talc	http://purl.obolibrary.org/obo/CHEBI_32178		
HP:0040084	Abnormal circulating renin	biolink:PhenotypicFeature	mondo	UMLS:C4021038		Abnormal circulating renin|Abnormal plasma renin	http://purl.obolibrary.org/obo/HP_0040084	A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions.	
HP:0040088	Abnormal lymphocyte count	biolink:PhenotypicFeature	mondo	UMLS:C0580550|SNOMEDCT_US:165534000		Abnormal numbers of lymphocytes|Abnormal lymphocyte counts|Abnormality of lymphocyte number|Abnormal number of lymphocytes|Abnormal lymphocyte count	http://purl.obolibrary.org/obo/HP_0040088	Any abnormality in the total number of lymphocytes in the blood.	
HGNC:18145	PHF6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18145		
MONDO:0018240	TRPV4-related bone disorder	biolink:Disease	mondo	UMLS:CN227290|Orphanet:364820	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018240		UMLS:CN227290|ORPHA:364820
MONDO:0031219	mismatch repair cancer syndrome	biolink:Disease	mondo	OMIMPS:276300			http://purl.obolibrary.org/obo/MONDO_0031219		
MONDO:0021895	temporomandibular joint dysfunction syndrome	biolink:Disease	mondo	UMLS:C0039496|NCIT:C35066|MESH:D013706		Temporomandibular Joint Dysfunction Syndrome|Snapping jaw|Temporomandibular Joint Syndrome|Costens Syndrome|Myofascial pain - dysfunction syndrome of TMJ|TMJ Syndrome|Costen's Syndrome|Myofascial Pain Dysfunction Syndrome, Temporomandibular Joint|Temporomandibular joint syndrome|Syndrome, TMJ|Temporomandibular joint-pain-dysfunction syndrome|Costen Syndrome|Temporomandibular joint pain dysfunction syndrome|Costen's complex|Mandibular dysfunction|temporomandibular joint dysfunction syndrome|TMJ syndrome|Joint Syndrome, Temporomandibular|Costen's syndrome|Syndrome, Temporomandibular Joint|Syndrome, Costen's|TMJPDS - Temporomandibular joint pain dysfunction syndrome	http://purl.obolibrary.org/obo/MONDO_0021895	A common disorder noted with jaw movement. It may be caused by malocclusion, repetitive use injury, trauma or arthritis. It is more prevalent among females between their second and fourth decades. Clinical signs include preauricular pain, temporomandibular joint clicking (as the mandibular condyle slips from the articulation made with the capsular disc and temporal bone) and restriction of jaw motion. Clinical course is typically benign but may progress to associated headaches, ear and neck pain, tinnitus and dislocation of temporomandibular joint. Prognosis is favorable as a majority of cases will respond to conservative management.	NCIT:C35066|UMLS:C0039496|MESH:D013706
MONDO:0021896	anterior spinal artery stroke	biolink:Disease	mondo	GARD:0009653|MESH:C537776|UMLS:C2931608	gard_rare		http://purl.obolibrary.org/obo/MONDO_0021896		MESH:C537776|UMLS:C2931608
MONDO:0006259	obsolete juvenile xanthogranuloma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006259		
MONDO:0006257	jejunal neuroendocrine tumor G1	biolink:Disease	mondo	EFO:1000308|NCIT:C6429|UMLS:C1334296		jejunal NET G1|jejunum carcinoid tumor (disease)|grade 1 neuroendocrine neoplasm of jejunum|jejunum neuroendocrine tumor, well differentiated, low grade|jejunal carcinoid tumor|jejunum carcinoid tumor|carcinoid tumor of the jejunum|carcinoid tumor of jejunum|jejunum neuroendocrine neoplasm G1|jejunum carcinoid tumor|jejunum NET G1	http://purl.obolibrary.org/obo/MONDO_0006257	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the jejunum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	NCIT:C6429|UMLS:C1334296
MONDO:0006258	juvenile polyp	biolink:Disease	mondo	UMLS:C0221273|NCIT:C3826|EFO:1000310		juvenile polyp|retention polyp	http://purl.obolibrary.org/obo/MONDO_0006258	A non-neoplastic hamartomatous polyp that arises from the stomach and intestinal tract. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation.	UMLS:C0221273|NCIT:C3826
MONDO:0006255	intimal sarcoma	biolink:Disease	mondo	EFO:1000305|NCIT:C53677|UMLS:C1708550|ONCOTREE:INTS		INTS	http://purl.obolibrary.org/obo/MONDO_0006255	A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor.	NCIT:C53677|UMLS:C1708550
MONDO:0006256	invasive breast carcinoma	biolink:Disease	mondo	ONCOTREE:BRCA|SCTID:713609000|EFO:1000307|NCIT:C9245|UMLS:C0853879		infiltrating breast carcinoma|invasive carcinoma of breast|invasive carcinoma of the breast|invasive mammary carcinoma|invasive breast cancer|invasive breast carcinoma|BRCA|infiltrating carcinoma of breast|infiltrating carcinoma of the breast|infiltrating breast cancer	http://purl.obolibrary.org/obo/MONDO_0006256	A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women.	UMLS:C0853879|SNOMEDCT:713609000|NCIT:C9245
MONDO:0006253	obsolete infiltrating bladder urothelial carcinoma sarcomatoid variant	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006253		
MONDO:0006254	intestinal type adenocarcinoma	biolink:Disease	mondo	ICDO:8144/3|UMLS:C0334279|EFO:1000304|NCIT:C4126		intestinal type carcinoma|intestinal-type adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006254	An adenocarcinoma arising from epithelium which has undergone intestinal metaplasia. Representative examples include gastric, gallbladder, and ampulla of Vater intestinal type adenocarcinomas.	NCIT:C4126|UMLS:C0334279
MONDO:0006251	inclusion body fibromatosis (disease)	biolink:Disease	mondo	HP:0025197|EFO:1000301|NCIT:C3456		inclusion body fibromatosis|infantile digital fibromatosis|Reye tumor|infantile digital fibroma/fibromatosis|Reye's tumor|digital fibrous tumor of Reye	http://purl.obolibrary.org/obo/MONDO_0006251	A rare benign neoplasm arising from the soft tissues of the digits, in young children. It is characterized by the presence of fibroblastic spindle cells, and intracytoplasmic eosinophilic spherical inclusions.	NCIT:C3456
MONDO:0006252	obsolete infiltrating bladder lymphoepithelioma-like carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006252		
GO:0045916	negative regulation of complement activation	biolink:OntologyClass	mondo			down-regulation of complement activation|down regulation of complement activation|downregulation of complement activation|inhibition of complement activation|negative regulation of complement cascade	http://purl.obolibrary.org/obo/GO_0045916	Any process that stops, prevents, or reduces the frequency, rate or extent of complement activation.	
MONDO:0006250	ileal neuroendocrine tumor G1	biolink:Disease	mondo	EFO:1000300|NCIT:C4935|ICD9:209.03|UMLS:C0745216|SCTID:425318003		ileum neuroendocrine neoplasm G1|ileal neuroendocrine tumor G1|ileum carcinoid tumor (disease)|grade 1 neuroendocrine neoplasm of ileum|ileum NET G1|ileal carcinoid tumor|ileum carcinoid tumor|ileum neuroendocrine tumor, well differentiated, low grade|ileal NET G1|carcinoid tumor of the ileum|carcinoid tumor of ileum|ileum carcinoid tumor	http://purl.obolibrary.org/obo/MONDO_0006250	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ileum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	SNOMEDCT:425318003|NCIT:C4935|UMLS:C0745216
GO:0045917	positive regulation of complement activation	biolink:OntologyClass	mondo			activation of complement activation|positive regulation of complement cascade|stimulation of complement activation|upregulation of complement activation|up-regulation of complement activation|up regulation of complement activation	http://purl.obolibrary.org/obo/GO_0045917	Any process that activates or increases the frequency, rate or extent of complement activation.	
GO:0045914	negative regulation of catecholamine metabolic process	biolink:OntologyClass	mondo			down regulation of catecholamine metabolic process|negative regulation of catecholamine metabolism|downregulation of catecholamine metabolic process|inhibition of catecholamine metabolic process|down-regulation of catecholamine metabolic process	http://purl.obolibrary.org/obo/GO_0045914	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving catecholamine.	
GO:0045915	positive regulation of catecholamine metabolic process	biolink:OntologyClass	mondo			up-regulation of catecholamine metabolic process|positive regulation of catecholamine metabolism|up regulation of catecholamine metabolic process|activation of catecholamine metabolic process|stimulation of catecholamine metabolic process|upregulation of catecholamine metabolic process	http://purl.obolibrary.org/obo/GO_0045915	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving catecholamine.	
GO:0045912	negative regulation of carbohydrate metabolic process	biolink:OntologyClass	mondo			inhibition of carbohydrate metabolic process|down-regulation of carbohydrate metabolic process|downregulation of carbohydrate metabolic process|negative regulation of carbohydrate metabolism|down regulation of carbohydrate metabolic process	http://purl.obolibrary.org/obo/GO_0045912	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving carbohydrate.	
GO:0045913	positive regulation of carbohydrate metabolic process	biolink:OntologyClass	mondo			upregulation of carbohydrate metabolic process|up regulation of carbohydrate metabolic process|stimulation of carbohydrate metabolic process|positive regulation of carbohydrate metabolism|up-regulation of carbohydrate metabolic process|activation of carbohydrate metabolic process	http://purl.obolibrary.org/obo/GO_0045913	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving carbohydrate.	
MONDO:0018249	finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome	biolink:Disease	mondo	ICD10:Q87.2|Orphanet:369979|UMLS:CN204822	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0018249		ORPHA:369979|UMLS:CN204822
GO:0045910	negative regulation of DNA recombination	biolink:OntologyClass	mondo			down regulation of DNA recombination|inhibition of DNA recombination|downregulation of DNA recombination|down-regulation of DNA recombination	http://purl.obolibrary.org/obo/GO_0045910	Any process that stops, prevents, or reduces the frequency, rate or extent of DNA recombination.	
HGNC:18119	SPATA5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18119		
GO:0045911	positive regulation of DNA recombination	biolink:OntologyClass	mondo			up-regulation of DNA recombination|up regulation of DNA recombination|activation of DNA recombination|stimulation of DNA recombination|upregulation of DNA recombination	http://purl.obolibrary.org/obo/GO_0045911	Any process that activates or increases the frequency, rate or extent of DNA recombination.	
MONDO:0018246	homozygous 2p21 microdeletion syndrome	biolink:Disease	mondo	Orphanet:369886|UMLS:CN204808|ICD10:Q93.5	ordo_group_of_disorders	2p21 contiguous gene deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0018246		ORPHA:369886|UMLS:CN204808
MONDO:0018245	2p21 microdeletion syndrome without cystinuria	biolink:Disease	mondo	ICD10:Q93.5|UMLS:CN204807|Orphanet:369881	ordo_malformation_syndrome	Del(2)(p21) without cystinuria	http://purl.obolibrary.org/obo/MONDO_0018245	2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.	ORPHA:369881|UMLS:CN204807
MONDO:0018248	intellectual disability-seizures-macrocephaly-obesity syndrome	biolink:Disease	mondo	Orphanet:369950|UMLS:CN204818|ICD10:Q87.8	ordo_disease	Der(8)t(8;12)	http://purl.obolibrary.org/obo/MONDO_0018248	Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.	ORPHA:369950|UMLS:CN204818
MONDO:0033885	mitochondrial complex IV deficiency, nuclear-type	biolink:Disease	mondo	OMIMPS:220110			http://purl.obolibrary.org/obo/MONDO_0033885		
MONDO:0018247	CADDS	biolink:Disease	mondo	Orphanet:369942|ICD10:Q87.8|UMLS:CN180200|GARD:0012472	ordo_disease	contiguous ABCD1 DXS1357E deletion syndrome|Zellweger-like contiguous gene deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0018247		ORPHA:369942|UMLS:CN180200
MONDO:0018242	autoimmune hypoparathyroidism (disease)	biolink:Disease	mondo	SCTID:75316000|HP:0011771|ICD10:E20.8|UMLS:C0271865|Orphanet:36913	ordo_disease	autoimmune hypoparathyroidism	http://purl.obolibrary.org/obo/MONDO_0018242	An autoimmune form of hypoparathyroidism.	ORPHA:36913|UMLS:C0271865|SNOMEDCT:75316000
MONDO:0018241	primary short bowel syndrome	biolink:Disease	mondo	UMLS:CN204780|ICD10:Q41.0|Orphanet:365563	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018241		UMLS:CN204780|ORPHA:365563
MONDO:0018244	obesity due to SIM1 deficiency	biolink:Disease	mondo	Orphanet:369873|ICD10:E66.8	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018244		ORPHA:369873
HGNC:18111	CCDC50	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18111		
MONDO:0018243	intellectual disability-hyperkinetic movement-truncal ataxia syndrome	biolink:Disease	mondo	UMLS:CN204803|Orphanet:369847|ICD10:G71.0	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018243		ORPHA:369847|UMLS:CN204803
HGNC:18121	MFRP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18121		
MONDO:0006268	liver diffuse large B-cell lymphoma	biolink:Disease	mondo	UMLS:C2184126|NCIT:C96843|EFO:1000323		hepatic diffuse large B-cell lymphoma|liver diffuse large B-cell lymphoma|primary liver diffuse large B-cell lymphoma|diffuse large B-cell lymphoma of liver|primary hepatic diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0006268	A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver.	UMLS:C2184126|NCIT:C96843
MONDO:0006269	obsolete liver inflammatory myofibroblastic tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006269		
MONDO:0006266	Leydig cell tumor	biolink:Disease	mondo	ICDO:8650/1|MESH:D007984|NCIT:C3188|UMLS:C0023601|EFO:1000321|DOID:2696		interstitial cell neoplasm|Leydig cell tumor|interstitial cell neoplasm|Leydig cell tumor, undetermined|interstitial cell tumor|Leydig cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0006266	A sex cord-stromal tumor occurring in the testis and rarely in the ovary. It is predominantly or completely composed of Leydig cells which may contain crystals of Reinke. In males it usually presents as a painless testicular enlargement and it may be associated with gynecomastia and decreased libido. The majority of the cases have a benign clinical course. Approximately 10% of the cases have a malignant clinical course and metastasize. In females it may be associated with androgenic manifestations and it follows a benign clinical course.	MESH:D007984|DOID:2696|UMLS:C0023601|NCIT:C3188
MONDO:0006267	liver cavernous hemangioma	biolink:Disease	mondo	EFO:1000322|NCIT:C96839|UMLS:C3282904		cavernous hemangioma of liver|liver cavernous hemangioma	http://purl.obolibrary.org/obo/MONDO_0006267	A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females.	UMLS:C3282904|NCIT:C96839
MONDO:0006264	laryngeal adenoid cystic carcinoma	biolink:Disease	mondo	EFO:1000319|NCIT:C9462|DOID:4869|UMLS:C1334368		laryngeal adenoid cystic carcinoma|laryngeal throat adenoid cystic cancer|adenoid cystic carcinoma of larynx|adenoid cystic carcinoma of the larynx	http://purl.obolibrary.org/obo/MONDO_0006264	A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases.	UMLS:C1334368|NCIT:C9462|DOID:4869
MONDO:0006265	laryngeal small cell carcinoma	biolink:Disease	mondo	DOID:7144|UMLS:C1334378|EFO:1000320|NCIT:C6025		laryngeal small cell carcinoma|laryngeal throat small cell cancer|larynx small cell carcinoma|small cell carcinoma of the larynx|small cell carcinoma of larynx	http://purl.obolibrary.org/obo/MONDO_0006265	A rare carcinoma that arises from the larynx. It is characterized by the presence of small neuroendocrine cells. It metastasizes early and has an aggressive clinical course.	DOID:7144|UMLS:C1334378|NCIT:C6025
MONDO:0006262	lacrimal gland adenoid cystic carcinoma	biolink:Disease	mondo	NCIT:C4540|EFO:1000317|UMLS:C0346340|DOID:4870|SCTID:254987003		adenoid cystic carcinoma of lacrimal gland|lacrimal gland adenoid cystic carcinoma|adenoid cystic carcinoma of the lacrimal gland	http://purl.obolibrary.org/obo/MONDO_0006262	A adenoid cystic carcinoma that involves the lacrimal gland.	SNOMEDCT:254987003|NCIT:C4540|UMLS:C0346340|DOID:4870
MONDO:0006263	obsolete Langerhans cell histiocytosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006263		
MONDO:0006260	kidney medullary carcinoma	biolink:Disease	mondo	ICD10:C64|UMLS:CN203938|ONCOTREE:MRC|NCIT:C7572|EFO:1000314|GARD:0013175|Orphanet:319319|MedDRA:10064886	ordo_disease	renal medullary carcinoma|carcinoma of renal medulla|renal medulla carcinoma|kidney medullary carcinoma	http://purl.obolibrary.org/obo/MONDO_0006260	A type of renal carcinoma affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis.	ORPHA:319319|UMLS:CN203938|MEDDRA:10064886|NCIT:C7572
MONDO:0043209	albinism	biolink:Disease	mondo	MESH:D000417|NCIT:C84543|UMLS:C0001916|GARD:0005768|SCTID:15890002|ICD10:E70.3	gard_rare	albinism	http://purl.obolibrary.org/obo/MONDO_0043209	A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin.	SNOMEDCT:15890002|NCIT:C84543|MESH:D000417|UMLS:C0001916
MONDO:0006261		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006261		
MONDO:0043206	trichostasis spinulosa	biolink:Disease	mondo	UMLS:C0263487|SCTID:21049007|MESH:C536558|GARD:0005269	gard_rare	trichostasis spinulosa|elevated dark spiny papules on the face or trunk	http://purl.obolibrary.org/obo/MONDO_0043206	Trichostasis spinulosa (TS) is a condition where instead of one hair protruding from a hair follicle, a bundle or bush of hair come out of a single follicle. This results in elevated, dark spiny papules on the head, face (usually the nose), and trunk. In this condition, there are numerous tiny open pores filled with multiple tiny short hairs, usually only visible with a magnifying glass. TS usually does not cause problems andmay only be noticed as an incidental finding. The exact cause is unknown.	SNOMEDCT:21049007|MESH:C536558|UMLS:C0263487
GO:0045923	positive regulation of fatty acid metabolic process	biolink:OntologyClass	mondo			positive regulation of fatty acid metabolism|upregulation of fatty acid metabolic process|up regulation of fatty acid metabolic process|stimulation of fatty acid metabolic process|activation of fatty acid metabolic process|up-regulation of fatty acid metabolic process	http://purl.obolibrary.org/obo/GO_0045923	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving fatty acids.	
MONDO:0018239	aggrecan-related bone disorder	biolink:Disease	mondo	UMLS:CN227289|Orphanet:364817	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018239		UMLS:CN227289|ORPHA:364817
MONDO:0018238	obsolete rare bone disease related to a common gene or pathway defect	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018238		
GO:0045922	negative regulation of fatty acid metabolic process	biolink:OntologyClass	mondo			inhibition of fatty acid metabolic process|down-regulation of fatty acid metabolic process|negative regulation of fatty acid metabolism|downregulation of fatty acid metabolic process|down regulation of fatty acid metabolic process	http://purl.obolibrary.org/obo/GO_0045922	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving fatty acids.	
MONDO:0043207	urethral obstruction sequence	biolink:Disease	mondo	UMLS:C0265363|SCTID:18241005|GARD:0005428|MESH:C536477	gard_rare	early urethral obstruction sequence|EUOS|renal dysplasia or hydronephrosis, oligohydramnios and subsequent lung hypoplasia due to urethral obstruction	http://purl.obolibrary.org/obo/MONDO_0043207		SNOMEDCT:18241005|UMLS:C0265363|MESH:C536477
HP:0003074	Hyperglycemia	biolink:PhenotypicFeature	mondo	UMLS:C0020456|MSH:D006943|SNOMEDCT_US:80394007|SNOMEDCT_US:237598005		High blood sugar|High blood glucose	http://purl.obolibrary.org/obo/HP_0003074	An increased concentration of glucose in the blood.	
MONDO:0018235	dysostosis with limb anomaly as a major feature	biolink:Disease	mondo	Orphanet:364568	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0018235		ORPHA:364568
MONDO:0018234	dysostosis	biolink:Disease	mondo	NCIT:C34560|DOID:1934|UMLS:C0013393|SCTID:109420003|Orphanet:364559|ICD9:756.9|MESH:D004413	ordo_group_of_disorders	dysostosis	http://purl.obolibrary.org/obo/MONDO_0018234	A disorder of the development of bone in which ossification is affected.	MESH:D004413|DOID:1934|ORPHA:364559|UMLS:C0013393|SNOMEDCT:109420003|NCIT:C34560
HP:0003073	Hypoalbuminemia	biolink:PhenotypicFeature	mondo	MSH:D034141|SNOMEDCT_US:119247004|UMLS:C0239981		Hypoalbuminaemia|Low blood albumin|Low albumin	http://purl.obolibrary.org/obo/HP_0003073	Reduction in the concentration of albumin in the blood.	
HGNC:18129	GHRL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18129		
HP:0003072	Hypercalcemia	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:66931009|SNOMEDCT_US:166702002|UMLS:C0020437|MSH:D006934		High blood calcium levels|Hypercalcaemia|Increased calcium in blood	http://purl.obolibrary.org/obo/HP_0003072	An abnormally increased calcium concentration in the blood.	
MONDO:0018237	acrofacial dysostosis	biolink:Disease	mondo	Orphanet:364574|UMLS:C1332140|NCIT:C35795|DOID:0060379	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018237		DOID:0060379|ORPHA:364574|UMLS:C1332140|NCIT:C35795
MONDO:0021879	small cell variant anaplastic large cell lymphoma	biolink:Disease	mondo	MESH:C538255|GARD:0009477|NCIT:C7208|UMLS:C1335983	gard_rare	anaplastic small cell lymphoma|small cell variant anaplastic large cell lymphoma|small cell variant of anaplastic large cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0021879	A histologic variant of anaplastic large cell lymphoma characterized by the presence of a predominant population of small to medium size malignant cells with irregular nuclei.	UMLS:C1335983|MESH:C538255|NCIT:C7208
MONDO:0018236	dysostosis with limb and face anomalies as a major feature	biolink:Disease	mondo	Orphanet:364571	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0018236		ORPHA:364571
HGNC:18127	TUBGCP6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18127		
MONDO:0018231	primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments	biolink:Disease	mondo	Orphanet:364531	ordo_group_of_disorders	primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments|primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments	http://purl.obolibrary.org/obo/MONDO_0018231		ORPHA:364531
HGNC:18124	P2RY12	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18124		
MONDO:0018230	primary bone dysplasia	biolink:Disease	mondo	Orphanet:364526	ordo_group_of_disorders	primary skeletal dysplasia|primary osteodysplasia	http://purl.obolibrary.org/obo/MONDO_0018230		ORPHA:364526
HP:0003077	Hyperlipidemia	biolink:PhenotypicFeature	mondo	UMLS:C0020473|MSH:D006949|SNOMEDCT_US:55822004		Elevated lipids in blood	http://purl.obolibrary.org/obo/HP_0003077	An elevated lipid concentration in the blood.	
MONDO:0018233	otopalatodigital syndrome spectrum disorder	biolink:Disease	mondo	Orphanet:364541|DOID:0111782|UMLS:C2748918	ordo_group_of_disorders	OPSD|OPD spectrum disorder	http://purl.obolibrary.org/obo/MONDO_0018233	Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group include otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.	DOID:0111782|UMLS:C2748918|ORPHA:364541
HP:0003076	Glycosuria	biolink:PhenotypicFeature	mondo	UMLS:C0017979|MSH:D006029|SNOMEDCT_US:45154002		Glucosuria|Glucose in urine	http://purl.obolibrary.org/obo/HP_0003076	An increased concentration of glucose in the urine.	
HGNC:18122	SOX17	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18122		
MONDO:0018232	primary bone dysplasia with micromelia	biolink:Disease	mondo	Orphanet:364536	ordo_group_of_disorders	primary skeletal dysplasia with micromelia|primary osteodysplasia with micromelia	http://purl.obolibrary.org/obo/MONDO_0018232		ORPHA:364536
MONDO:0006239	head and neck paraganglioma	biolink:Disease	mondo	EFO:1000288|UMLS:C1333944|NCIT:C5327		paraganglioma of the head and neck|paraganglioma of head and neck|head and neck paraganglioma|craniocervical region paraganglioma|paraganglioma of craniocervical region	http://purl.obolibrary.org/obo/MONDO_0006239	A benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas.	UMLS:C1333944|NCIT:C5327
MONDO:0006237	granulocytic sarcoma	biolink:Disease	mondo	NCIT:C35815|EFO:1000286		granulocytic sarcoma|sarcoma, granulocytic, malignant	http://purl.obolibrary.org/obo/MONDO_0006237	A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001)	NCIT:C35815
MONDO:0006238	growth hormone-producing pituitary gland adenoma	biolink:Disease	mondo	NCIT:C7461|EFO:1000287|ICD10:E22.0|EFO:0004125|SCTID:254957009|Orphanet:96256|DOID:6255|ICD10:D35.2	ordo_group_of_disorders	growth hormone-producing adenoma|growth hormone producing pituitary adenoma|somatotrope adenoma|Somatotrophinoma|growth hormone secreting adenoma of pituitary|somatotroph adenoma|growth hormone producing adenoma of the pituitary gland|growth hormone producing adenoma of pituitary gland|growth hormone producing adenoma of pituitary|growth hormone secreting adenoma of the pituitary gland|growth hormone secreting pituitary gland adenoma|growth hormone secreting adenoma of pituitary gland|GH cell adenoma|growth hormone-producing pituitary gland adenoma|growth hormone secreting pituitary adenoma|growth hormone secreting adenoma of the pituitary|growth hormone producing adenoma of the pituitary|growth hormone producing pituitary gland adenoma|somatotropic adenoma	http://purl.obolibrary.org/obo/MONDO_0006238	An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly.	ORPHA:96256|NCIT:C7461|SNOMEDCT:254957009|DOID:6255
MONDO:0008899	camptodactyly syndrome, Guadalajara type 2	biolink:Disease	mondo	ICD10:Q87.1|MESH:C567138|GARD:0001068|SCTID:720603002|OMIM:211920|Orphanet:1326	ordo_malformation_syndrome|gard_rare	camptodactyly syndrome, Guadalajara, type II|Guadalajara camptodactyly syndrome type II|camptodactyly syndrome Guadalajara type 2|camptodactyly syndrome, Guadalajara, type 2	http://purl.obolibrary.org/obo/MONDO_0008899	Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985.	ORPHA:1326|MESH:C537971|SNOMEDCT:720603002|UMLS:C2931680|http://identifiers.org/omim/211920|MESH:C567138
MONDO:0043224	multi-infarct dementia	biolink:Disease	mondo	NCIT:C34522|GARD:0005925|SCTID:56267009|MESH:D015161	gard_rare	Multiinfarct Dementias|dementia, Multiinfarct|lacunar Dementias|multi infarct dementia|dementia multi infarct|arteriosclerotic dementia|dementia, multi infarct|multi-infarcts, dementia|Dementias, multi-infarct|lacunar dementia|Binswanger disease|multi-infarct dementia|dementia multi-infarcts|dementia, lacunar|Multiinfarct dementia|multi-infarct Dementias|Binswanger's disease|multi-infarct, dementia|Dementias, Multiinfarct|dementia multi-infarct|Dementias, lacunar	http://purl.obolibrary.org/obo/MONDO_0043224	A common form of dementia caused by multiple cortical or subcortical cerebral infarctions.	NCIT:C34522|SNOMEDCT:56267009|MESH:D015161
MONDO:0006235	granular cell tumor	biolink:Disease	mondo	MESH:C535558|ONCOTREE:GCT|GARD:0009618|DOID:2411|ICD9:215.9|UMLS:C0085167|SCTID:404035005|EFO:1000284|NCIT:C3474|ICDO:9580/0|MESH:D016586	gard_rare	granular cell tumor (morphologic abnormality)|neoplasm of granular cell|granular cell neoplasm|Abrikosov's tumor|giant granulocellular Abrikosov's tumor|Abrikosov’s tumor|Abrikossoff tumor|granular cell tumor|granular cell myoblastoma|granular cell schwannoma|Abrikosoff's tumor|Abrikossoff's tumor|granular cell tumor NOS (morphologic abnormality)|Abrikosoff's granulous cell tumor|GCT|malignant variant of Abrikosov's tumor|granular cell nerve sheath tumor	http://purl.obolibrary.org/obo/MONDO_0006235	An unusual benign or malignant neoplasm characterized by the presence of neoplastic large polygonal cells with granular, eosinophilic cytoplasm which contains abundant lysosomes. It was originally thought to be a tumor originating from muscle cells and was named granular cell myoblastoma. Subsequent studies have suggested a derivation from Schwann cells. It affects females more often than males and it usually presents as a solitary mass. A minority of patients have multiple tumors. It can arise from many anatomic sites including the posterior pituitary gland, skin, oral cavity, esophagus, stomach, heart, mediastinum, and breast.	MESH:C535558|DOID:2411|SNOMEDCT:404035005|MESH:D016586|NCIT:C3474|UMLS:C0085167
GO:0045930	negative regulation of mitotic cell cycle	biolink:OntologyClass	mondo			negative regulation of progression through mitotic cell cycle|down-regulation of progression through mitotic cell cycle|negative regulation of mitotic cell cycle progression|downregulation of progression through mitotic cell cycle|down regulation of progression through mitotic cell cycle|inhibition of progression through mitotic cell cycle	http://purl.obolibrary.org/obo/GO_0045930	Any process that stops, prevents or reduces the rate or extent of progression through the mitotic cell cycle.	
MONDO:0008898	camptodactyly syndrome, Guadalajara type 1	biolink:Disease	mondo	ICD10:Q87.1|UMLS:C1859359|MESH:C537970|OMIM:211910|GARD:0001067|Orphanet:1327|SCTID:720602007	ordo_malformation_syndrome|gard_rare	camptodactyly syndrome, Guadalajara, type 1|faciothoracoskeletal syndrome|GCS1|camptodactyly syndrome, Guadalajara, type I; GCS1|camptodactyly syndrome Guadalajara type 1|FTSS|GCS 1|camptodactyly syndrome, Guadalajara, type I	http://purl.obolibrary.org/obo/MONDO_0008898	Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies.	MESH:C537970|SNOMEDCT:720602007|UMLS:C2931679|http://identifiers.org/omim/211910|UMLS:C1859359|ORPHA:1327
MONDO:0008897	hyperphosphatemic familial tumoral calcinosis	biolink:Disease	mondo	UMLS:C1876187|NCIT:C131851|GARD:0010879|Orphanet:306661|OMIM:211900|ICD10:M11.2|DOID:0111063	ordo_clinical_subtype	HFTC|tumoral calcinosis, hyperphosphatemic, familial|hyperphosphatemia hyperostosis syndrome|hyperostosis with hyperphosphatemia|Morbus Teutschlaender|calcinosis, tumoral, with hyperphosphatemia|familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome|hyperphosphatemia hyperostosis|HHS|PHPTC|Teutschlaender disease, familial|HFTC1|hyperostosis-hyperphosphatemia syndrome|tumoral calcinosis, HYPERPHOSPHATEMIC, familial, 1; HFTC1|tumoral calcinosis, hyperphosphatemic, familial; HFTC|hyperphosphatemia tumoral calcinosis|tumoral calcinosis with hyperphosphatemia|tumoral calcinosis, Hyperphosphatemic, familial, 1|morbus Teutschlaender|cortical hyperostosis with hyperphosphatemia|tumoral calcinosis, primary Hyperphosphatemic|hypercalcemic tumoral calcinosis|familial Teutschlaender disease|primary hyperphosphatemic tumoral calcinosis|lipocalcinogranulomatosis	http://purl.obolibrary.org/obo/MONDO_0008897	Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved.	DOID:0111063|NCIT:C131851|UMLS:C1876187|http://identifiers.org/omim/211900|ORPHA:306661
GO:0045931	positive regulation of mitotic cell cycle	biolink:OntologyClass	mondo			upregulation of progression through mitotic cell cycle|positive regulation of progression through mitotic cell cycle|up regulation of progression through mitotic cell cycle|stimulation of progression through mitotic cell cycle|up-regulation of progression through mitotic cell cycle|positive regulation of mitotic cell cycle progression|activation of progression through mitotic cell cycle	http://purl.obolibrary.org/obo/GO_0045931	Any process that activates or increases the rate or extent of progression through the mitotic cell cycle.	
MONDO:0006236	obsolete granular cell tumor of the neurohypophysis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006236		
MONDO:0008896	campomelia, Cumming type	biolink:Disease	mondo	UMLS:C1859371|GARD:0001061|MESH:C537966|ICD10:Q87.8|OMIM:211890|SCTID:720599002|Orphanet:1318	gard_rare|ordo_malformation_syndrome	campomelia Cumming type|cervical lymphocele with bowed long bones|Cumming syndrome|campomelia, Cumming type|campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys	http://purl.obolibrary.org/obo/MONDO_0008896	Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.	MESH:C537966|http://identifiers.org/omim/211890|UMLS:C1859371|SNOMEDCT:720599002|ORPHA:1318
MONDO:0043226	postpartum amenorrhea-galactorrhea syndrome	biolink:Disease	mondo	SCTID:85039006|MESH:D002640|GARD:0006037|EFO:1001291	gard_rare	postpartum amenorrhoea-galactorrhea syndrome|persistent postpartum amenorrhea-galactorrhea syndrome|disease, Frommel|postpartum amenorrhea-galactorrhea syndrome|Frommel disease|syndrome, Chiari-Frommel|Chiari-frommel syndrome|disease, Frommel's|Chiari Frommel syndrome|Frommel's disease	http://purl.obolibrary.org/obo/MONDO_0043226		MESH:D002640|SNOMEDCT:85039006
MONDO:0006233	gonadal teratoma	biolink:Disease	mondo	NCIT:C98291|EFO:1000282|UMLS:C3273942		teratoma, gonads|gonadal teratoma	http://purl.obolibrary.org/obo/MONDO_0006233	A teratoma that arises from the testis or ovary.	NCIT:C98291|UMLS:C3273942
MONDO:0006234	grade III prostatic intraepithelial neoplasia	biolink:Disease	mondo	ICD9:233.4|ICD10:D07.5|DOID:8634|EFO:1000283|COHD:200970|UMLS:C0154088|NCIT:C3642|SCTID:92691004		stage 0 prostate gland carcinoma|carcinoma in situ of prostate|pin III|prostate gland in situ carcinoma|carcinoma in situ of prostate gland|grade III pin|grade 3 pin|prostate carcinoma in situ|prostate gland carcinoma in situ|grade 3 prostatic intraepithelial neoplasia|adenocarcinoma in situ of prostate|prostate adenocarcinoma in situ|adenocarcinoma in situ of the prostate	http://purl.obolibrary.org/obo/MONDO_0006234	High grade prostatic intraepithelial neoplasia characterized by the presence of severe architectural and cytologic abnormalities.	UMLS:C0154088|SNOMEDCT:92691004|DOID:8634|NCIT:C3642
MONDO:0008895	hereditary arterial and articular multiple calcification syndrome	biolink:Disease	mondo	GARD:0010762|OMIM:211800|SCTID:718602007|MESH:C565891|DOID:0111582|UMLS:C4305347|UMLS:C1859372|Orphanet:289601	ordo_disease	arterial calcification due to CD73 deficiency|CALJA|ACDC|calcification of joints and arteries; CALJA|arterial calcification and distal joint calcification|arterial calcification due to deficiency of Cd73|calcification of joints and arteries	http://purl.obolibrary.org/obo/MONDO_0008895	Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints.	DOID:0111582|MESH:C565891|ORPHA:289601|http://identifiers.org/omim/211800|UMLS:C1859372|SNOMEDCT:718602007|UMLS:C4305347
MONDO:0008894	cataract-hypertrichosis-intellectual disability syndrome	biolink:Disease	mondo	ICD10:Q87.8|UMLS:C0796282|Orphanet:1375|OMIM:211770|MESH:C537959|SCTID:722379001	ordo_malformation_syndrome	cataract, hypertrichosis, mental retardation syndrome|cataract, hypertrichosis, intellectual disability syndrome|CAHMR syndrome	http://purl.obolibrary.org/obo/MONDO_0008894	Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait.	MESH:C537959|http://identifiers.org/omim/211770|SNOMEDCT:722379001|UMLS:C0796282|ORPHA:1375
MONDO:0006231	gastrointestinal hamartoma	biolink:Disease	mondo	NCIT:C96475|EFO:1000280|UMLS:C3272802		gastrointestinal hamartoma	http://purl.obolibrary.org/obo/MONDO_0006231	A non-neoplastic, hamartomatous polyp that arises from the stomach, small intestine, and large intestine. This group includes the juvenile polyps and Peutz-Jeghers polyps.	NCIT:C96475|UMLS:C3272802
MONDO:0008893	C syndrome	biolink:Disease	mondo	Orphanet:1308|OMIM:211750|ICD10:Q87.8|UMLS:C0796095|DOID:0111581|SCTID:715409005|MESH:C537418|GARD:0005978	gard_rare|ordo_malformation_syndrome	OTCS|C syndrome|trigonocephaly syndrome|Opitz trigonocephaly syndrome|Opitz C trigonocephaly|trigonocephaly C syndrome|Opitz trigonocephaly C syndrome	http://purl.obolibrary.org/obo/MONDO_0008893	C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.	DOID:0111581|http://identifiers.org/omim/211750|UMLS:C0796095|SNOMEDCT:715409005|ORPHA:1308|MESH:C537418
MONDO:0006232	giant cell tumor of soft tissue	biolink:Disease	mondo	NCIT:C49107|EFO:1000281|UMLS:C0334553|ICDO:9251/1		GCT-ST|giant cell tumor of soft tissue|Osteoclastoma of soft tissue	http://purl.obolibrary.org/obo/MONDO_0006232	A painless, well circumscribed tumor arising in soft tissue, usually of the upper and lower extremities. Morphologically, it is characterized by a multinodular growth pattern. The cellular infiltrate is composed of mononuclear round or oval cells and multinucleated osteoclast-like giant cells, in a rich vascular stroma. It rarely metastasizes.	NCIT:C49107|UMLS:C0334553
MONDO:0008892	progressive familial intrahepatic cholestasis type 1	biolink:Disease	mondo	GARD:0009802|OMIM:211600|UMLS:CN205891|ICD10:K76.8|Orphanet:79306|DOID:0070226	ordo_clinical_subtype|gard_rare	cholestasis, progressive familial intrahepatic, 1|severe ATP8B1 deficiency|cholestasis, fatal intrahepatic|Byler disease|cholestasis, progressive familial intrahepatic, 1; PFIC1|progressive familial intrahepatic cholestasis|FIC1 deficiency|Byler's disease|PFIC1|cholestasis, progressive familial intrahepatic, type 1	http://purl.obolibrary.org/obo/MONDO_0008892	PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features.	ORPHA:79306|MESH:C535933|http://identifiers.org/omim/211600|UMLS:CN205891|DOID:0070226
MONDO:0006230	gastric squamous cell carcinoma	biolink:Disease	mondo	ICD10:C16.2|UMLS:C1333789|Orphanet:418959|ICD10:C16.1|SCTID:766980008|ICD10:C16.0|UMLS:CN237470|NCIT:C5475|ICD10:C16.8|DOID:5516|ICD10:C16.5|EFO:1000278|ICD10:C16.4|ICD10:C16.3	ordo_disease	gastric (stomach) squamous cell cancer|squamous cell carcinoma of stomach|squamous cell carcinoma of the stomach|gastric squamous cell carcinoma|stomach squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006230	A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body.	UMLS:CN237470|ORPHA:418959|NCIT:C5475|SNOMEDCT:766980008|UMLS:C1333789|DOID:5516
MONDO:0008891	riboflavin transporter deficiency	biolink:Disease	mondo	MESH:C537111|DOID:0050694|ICD10:G12.1|GARD:0009993|Orphanet:97229|OMIMPS:211530|SCTID:699866005	ordo_malformation_syndrome	disorder of riboflavin transmembrane transporter activity|disorder of riboflavin transmembrane transporter activity|BVVLS|Brown-Vialetto-Van Laere syndrome 1|progressive bulbar palsy with sensorineural deafness|riboflavin transmembrane transporter activity disease|pontobulbar palsy and neurosensory deafness|Brown-Vialetto-van Laere syndrome|BVVLS1|sensorineural hearing loss-pontobulbar palsy syndrome|Fazio-Londe syndrome	http://purl.obolibrary.org/obo/MONDO_0008891	Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.	SNOMEDCT:699866005|UMLS:C0796274|MESH:C537111|ORPHA:97229|DOID:0050694
MONDO:0008890	progressive bulbar palsy	biolink:Disease	mondo	EFO:0003783|ICD10:G12.22|GARD:0010928|DOID:681|OMIM:211500|COHD:436684|NCIT:C85026|UMLS:C0030442|MESH:D010244|Orphanet:56965|SCTID:54304004|ICD9:335.22	gard_rare	progressive bulbar atrophy|Fazio-Londe disease|bulbar palsy, progressive, of childhood	http://purl.obolibrary.org/obo/MONDO_0008890	Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms.	NCIT:C85026|MESH:D010244|SNOMEDCT:54304004|http://identifiers.org/omim/211500|UMLS:C0030442|DOID:681|ORPHA:56965
GO:0045938	positive regulation of circadian sleep/wake cycle, sleep	biolink:OntologyClass	mondo			activation of circadian sleep/wake cycle, sleep|stimulation of circadian sleep/wake cycle, sleep|upregulation of circadian sleep/wake cycle, sleep|positive regulation of sleep|up-regulation of circadian sleep/wake cycle, sleep|up regulation of circadian sleep/wake cycle, sleep	http://purl.obolibrary.org/obo/GO_0045938	Any process that activates or increases the duration or quality of sleep, a readily reversible state of reduced awareness and metabolic activity that occurs periodically in many animals.	
GO:0045939	negative regulation of steroid metabolic process	biolink:OntologyClass	mondo			down-regulation of steroid metabolic process|down regulation of steroid metabolic process|negative regulation of steroid metabolism|inhibition of steroid metabolic process|downregulation of steroid metabolic process	http://purl.obolibrary.org/obo/GO_0045939	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving steroids.	
GO:0045936	negative regulation of phosphate metabolic process	biolink:OntologyClass	mondo			down regulation of phosphate metabolic process|downregulation of phosphate metabolic process|inhibition of phosphate metabolic process|negative regulation of phosphate metabolism|down-regulation of phosphate metabolic process	http://purl.obolibrary.org/obo/GO_0045936	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving phosphates.	
GO:0045937	positive regulation of phosphate metabolic process	biolink:OntologyClass	mondo			upregulation of phosphate metabolic process|up-regulation of phosphate metabolic process|up regulation of phosphate metabolic process|activation of phosphate metabolic process|stimulation of phosphate metabolic process|positive regulation of phosphate metabolism	http://purl.obolibrary.org/obo/GO_0045937	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving phosphates.	
GO:0045934	negative regulation of nucleobase-containing compound metabolic process	biolink:OntologyClass	mondo			inhibition of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|downregulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|down-regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|down regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|negative regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism|negative regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	http://purl.obolibrary.org/obo/GO_0045934	Any cellular process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids.	
MONDO:0018228	bipartite talus	biolink:Disease	mondo	ICD10:Q66.8|Orphanet:364198|UMLS:CN227287|SCTID:763128009	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0018228	Bipartite talus is a rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling.	SNOMEDCT:763128009|ORPHA:364198|UMLS:CN227287
MONDO:0018227	hypocomplementemic urticarial vasculitis	biolink:Disease	mondo	GARD:0006725|UMLS:C0343206|Orphanet:36412|ICD10:M31.8|SCTID:239945009|UMLS:CN204757	gard_rare|ordo_disease	Mac Duffie hypocomplementemic urticarial vasculitis|anti-C1q vasculitis|McDuffie syndrome|McDuffie hypocomplementemic urticarial vasculitis|Mac Duffie syndrome	http://purl.obolibrary.org/obo/MONDO_0018227	Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations.	UMLS:C0343206|SNOMEDCT:239945009|ORPHA:36412|UMLS:CN204757
GO:0045935	positive regulation of nucleobase-containing compound metabolic process	biolink:OntologyClass	mondo			up-regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|positive regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism|up regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|activation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|stimulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|upregulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|positive regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	http://purl.obolibrary.org/obo/GO_0045935	Any cellular process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids.	
MONDO:0043219	migraine with brainstem aura	biolink:Disease	mondo	SCTID:83351003|NCIT:C117013|GARD:0005896	gard_rare	vertebrobasilar migraine|MBA|brainstem migraine|bickerstaff's migraine|basilar artery migraine with aura|basilar-type migraine|basilar artery migraine|basilar migraine|Bickerstaff migraine	http://purl.obolibrary.org/obo/MONDO_0043219	A migraine disorder characterized by episodes that are preceded by focal neurological symptoms originating in the brainstem.	NCIT:C117013|SNOMEDCT:83351003
MONDO:0018229	Stevens-Johnson syndrome	biolink:Disease	mondo	MedDRA:10042033|GARD:0007700|COHD:141651|SCTID:73442001|NCIT:C79484|ICD10:L51.1|OMIM:608579|Orphanet:36426|UMLS:C0038325|MESH:D013262|ICD9:695.12|ICD9:695.13|DOID:0050426|EFO:0004276|ICD10:L51.2|ICD9:695.15	ordo_clinical_subtype	Stevens Johnson syndrome|toxic Epidermal necrolysis, susceptibility to|severe cutaneous adverse reaction, susceptibility to|hypersensitivity syndrome, carbamazepine-induced, susceptibility to|Stevens-Johnson syndrome, susceptibility to|Dermatostomatitis, Stevens Johnson type|erythema multiforme Major	http://purl.obolibrary.org/obo/MONDO_0018229	Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area.	MESH:D013262|http://identifiers.org/omim/608579|UMLS:C0038325|DOID:0050426|ORPHA:36426|MEDDRA:10042033|NCIT:C79484|SNOMEDCT:73442001
MONDO:0043218	neurovascular disease	biolink:Disease	mondo	UMLS:C3898144|NCIT:C117007		nervous system disorder of vasculature|disease of nervous system vasculature|vasculature nervous system disorder|neurovascular disorder	http://purl.obolibrary.org/obo/MONDO_0043218	A disorder of the nervous system related to a vascular etiology.	NCIT:C117007|UMLS:C3898144
MONDO:0018224	hydroa vacciniforme-like lymphoma	biolink:Disease	mondo	ICDO:9725/3|NCIT:C45327|UMLS:C1708397|SCTID:763719001|ICD10:C84.5|Orphanet:364039	ordo_disease	HVLL|angiocentric cutaneous T-cell lymphoma of childhood|hV-like lymphoma|hydroa vacciniforme-like cutaneous T-cell lymphoma|hydroa-like cutaneous T-cell lymphoma|hydroa vacciniforme-like lymphoma|hydroa vacciniforme-like lymphoproliferative disorder	http://purl.obolibrary.org/obo/MONDO_0018224	A rare, EBV-positive cutaneous T-cell lymphoproliferative disorder, composed of CD8 positive cytotoxic T-lymphocytes. It affects children, almost exclusively in Latin America and Asia. Patients present with papulovesicular skin lesions, clinically resembling hydroa vacciniforme, in areas of sun-exposed skin.	NCIT:C45327|SNOMEDCT:763719001|ORPHA:364039|UMLS:C1708397
MONDO:0018223	systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood	biolink:Disease	mondo	UMLS:CN204753|ICD10:D47.9|ICDO:9724/3|SCTID:721311006|ICD10CM:D47.9|Orphanet:364033|DOID:0070324|NCIT:C80374	ordo_disease	systemic EBV-positive T-cell lymphoma of childhood|systemic EBV-positive T-cell lymphoproliferative disorder of childhood|systemic EBV+ T-cell LPD of childhood|EBV-positive T-cell lymphoproliferative disorder of childhood|systemic EBV-positive T-cell lymphoproliferative disease of childhood	http://purl.obolibrary.org/obo/MONDO_0018223	Systemic Epstein-Barr virus (EBV)-positive T-cell lymphoproliferative disease of childhood is a rare and very aggressive neoplastic disease emerging after a primary acute or chronic active EBV infection. It presents with persisting fever and malaise, hepatosplenomegaly with or without lymphadenopathy, liver failure, severe pancytopenia and a rapid progression towards multi-organ failure and hemophagocytic syndrome with a fatal issue. It is characterized by clonal proliferation of EBV-infected T cells with an activated cytotoxic phenotype.	DOID:0070324|UMLS:CN204753|SNOMEDCT:721311006|ORPHA:364033|NCIT:C80374
MONDO:0018226	infantile epileptic-dyskinetic encephalopathy	biolink:Disease	mondo	ICD10:G40.4|Orphanet:364063	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018226	Infantile epileptic-dyskinetic encephalopathy is a monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability.	ORPHA:364063
MONDO:0018225	ALK-positive large B-cell lymphoma	biolink:Disease	mondo	ICD10:C83.3|SCTID:715950008|Orphanet:364043|UMLS:C1333294|ICDO:9737/3|NCIT:C7225	ordo_disease	ALK-DLBCL|diffuse large B-cell lymphoma with expression of full-length anaplastic lymphoma kinase|ALK-positive large B-cell lymphoma|diffuse large B-cell lymphoma with expression of full-length ALK|ALK+ large B-cell lymphoma|ALK+ LBCL	http://purl.obolibrary.org/obo/MONDO_0018225	Anaplastic lymphoma kinase (ALK)-positive diffuse large B-cell lymphoma is a very rare variant of diffuse large B-cell lymphoma (DLBCL) mainly affecting middle-aged immunocompetent men and characterized by a consistent primary involvement of lymph nodes (mainly in the cervical and mediastinum lymph nodes) and with infrequent extra nodal involvement of the bone marrow and other extra-nodal sites (head and neck region, liver, spleen, and gastrointestinal tract). It has an aggressive disease course, and is associated with a poor prognosis.	NCIT:C7225|SNOMEDCT:715950008|ORPHA:364043|UMLS:C1333294
MONDO:0018220		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018220		
MONDO:0018222	X-linked intellectual disability due to GRIA3 anomalies	biolink:Disease	mondo	Orphanet:364028|ICD10:F72	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018222		ORPHA:364028
MONDO:0018221	immune hydrops fetalis	biolink:Disease	mondo	NCIT:C111904|Orphanet:364013|ICD9:773.3|SCTID:15539009|UMLS:C0455990|ICD10:P56.0	ordo_clinical_subtype	immune fetal edema|immune HF|IHF|immune fetal hydrops	http://purl.obolibrary.org/obo/MONDO_0018221	Immune hydrops fetalis (IHF), a form of HF, describes the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities due to maternal rhesus (Rh) incompatibility.	SNOMEDCT:15539009|ORPHA:364013|UMLS:C0455990|NCIT:C111904
MONDO:0006248	hydatidiform mole	biolink:Disease	mondo	GARD:0010263|MedDRA:10020481|EFO:1000298|ONCOTREE:MP|ICD10:O01.1|MESH:D006828|ICD10:O01.0|SCTID:44782008|ICDO:9100/0|UMLS:C0020217|OMIMPS:231090|NCIT:C3110|ICD10:O01.9|Orphanet:99927|ICD9:631	ordo_disease	HYDM|molar pregnancy|hydatid Mole|hydatidiform mole, recurrent|hydatidiform mole	http://purl.obolibrary.org/obo/MONDO_0006248	A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes.	ORPHA:99927|MEDDRA:10020481|SNOMEDCT:44782008|MESH:D006828|UMLS:C0020217|NCIT:C3110
MONDO:0006249	hyperplastic polyp	biolink:Disease	mondo	EFO:1000299|NCIT:C4083|UMLS:C0333983		metaplastic polyp|MP|Hp	http://purl.obolibrary.org/obo/MONDO_0006249	A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000).	NCIT:C4083|UMLS:C0333983
MONDO:0006246	high grade surface osteosarcoma	biolink:Disease	mondo	EFO:1000296|UMLS:C1266165|ICDO:9194/3|NCIT:C53958|ONCOTREE:HGSOS		high-grade surface osteosarcoma|high grade surface osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0006246	A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone.	NCIT:C53958|UMLS:C1266165
MONDO:0006247	histiocytic and dendritic cell neoplasm	biolink:Disease	mondo	EFO:1000297|DOID:5621|UMLS:C1334030|UMLS:CN206982|NCIT:C9294|Orphanet:98287	ordo_group_of_disorders	histiocytic and dendritic cell cancer|histiocytic and Dendritic cell tumors|histiocytic and Dendritic cell neoplasms|histiocytic and dendritic cell tumor|histiocytic and dendritic cell|histiocytic and dendritic cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0006247	Rare tumors that affect the hematopoietic and lymphoid tissues. The cells of origin are the histiocytes and accessory cells. They can occur at any age and show no significant variations in geographical distribution. This category includes the histiocytic sarcoma, Langerhans cell histiocytosis, Langerhans cell sarcoma, interdigitading dendritic cell sarcoma/tumor, follicular dendritic cell sarcoma/tumor, and dendritic cell sarcoma, not otherwise specified. (WHO, 2001)	DOID:5621|UMLS:CN206982|UMLS:C1334030|NCIT:C9294|ORPHA:98287
MONDO:0043237	glossodynia	biolink:Disease	mondo	GARD:0006518|SCTID:30731004|MESH:D005926	gard_rare	Glossopyroses|glossopyrosis|glossodynia|soreness of tongue|painful tongue|Glossalgias|Glossodynias|glossalgia	http://purl.obolibrary.org/obo/MONDO_0043237	Painful sensations in the tongue, including a sensation of burning.	SNOMEDCT:30731004|MESH:D005926
MONDO:0006244	HER2 positive breast carcinoma	biolink:Disease	mondo	NCIT:C53556|DOID:0060079|EFO:1000294|SCTID:427685000|UMLS:C1960398		HER2 Overexpressing subtype of breast carcinoma|Her2-receptor positive breast cancer|HER2 Overexpressing breast carcinoma|ERBB2 Overexpressing subtype of breast carcinoma|HER2 positive breast carcinoma|HER2 Positive breast cancer	http://purl.obolibrary.org/obo/MONDO_0006244	A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER).	SNOMEDCT:427685000|DOID:0060079|UMLS:C1960398|NCIT:C53556
MONDO:0006245	hidradenocarcinoma	biolink:Disease	mondo	ICDO:8402/3|EFO:1000295|NCIT:C54664|GARD:0010439		clear cell eccrine carcinoma|hidradenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006245	A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes.	NCIT:C54664
GO:0045940	positive regulation of steroid metabolic process	biolink:OntologyClass	mondo			up-regulation of steroid metabolic process|positive regulation of steroid metabolism|up regulation of steroid metabolic process|activation of steroid metabolic process|stimulation of steroid metabolic process|upregulation of steroid metabolic process	http://purl.obolibrary.org/obo/GO_0045940	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving steroids.	
MONDO:0006242	obsolete hepatoblastoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006242		
FOODON:00002196	refined or partially-refined food product	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00002196		
MONDO:0043230	ciguatera fish poisoning	biolink:Disease	mondo	SCTID:241774007|GARD:0006113|MESH:D036841	gard_rare	ciguatera|ciguatera Poisonings|ciguatoxin causing toxic effect|ciguatera fish poisoning|poisoning, ciguatera fish|Poisonings, ciguatera fish|ciguatera poisoning|Poisonings, ciguatera|poisoning, ciguatera|toxic effect of ciguatera fish poisoning|ciguatera fish Poisonings	http://purl.obolibrary.org/obo/MONDO_0043230	Poisoning caused by ingestion of seafood containing microgram levels of ciguatoxins. The poisoning is characterized by gastrointestinal, neurological and cardiovascular disturbances.	SNOMEDCT:241774007|MESH:D036841
MONDO:0006243	hepatoid adenocarcinoma	biolink:Disease	mondo	UMLS:C1266090|ICDO:8576/3|EFO:1000293|DOID:0060534|NCIT:C66950		hepatoid adenocarcinoma|hepatoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0006243	An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver.	DOID:0060534|NCIT:C66950|UMLS:C1266090
MONDO:0043233	exfoliative dermatitis	biolink:Disease	mondo	MESH:D003873|SCTID:399992009|UMLS:C0011606|NCIT:C39646|GARD:0006393	gard_rare	exfoliative dermatitis|dermatitis exfoliativa|Erythrodermas|erythroderma|exfoliative Dermatitides|Dermatitides, exfoliative	http://purl.obolibrary.org/obo/MONDO_0043233	The widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease. It is often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. (From Dorland, 27th ed)	UMLS:C0011606|NCIT:C39646|SNOMEDCT:399992009|MESH:D003873
MONDO:0006240	obsolete hemangiopericytic neoplasm	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006240		
MONDO:0006241	hepatic granuloma	biolink:Disease	mondo	ICD9:572.8|EFO:1000291|SCTID:714253009|UMLS:C0745754			http://purl.obolibrary.org/obo/MONDO_0006241	A granuloma located in the liver.	SNOMEDCT:714253009|UMLS:C0745754|NCIT:C4936
GO:0045947	negative regulation of translational initiation	biolink:OntologyClass	mondo			down regulation of translational initiation|inhibition of translational initiation|down-regulation of translational initiation|downregulation of translational initiation	http://purl.obolibrary.org/obo/GO_0045947	Any process that stops, prevents, or reduces the frequency, rate or extent of translational initiation.	
GO:0045948	positive regulation of translational initiation	biolink:OntologyClass	mondo			upregulation of translational initiation|up regulation of translational initiation|stimulation of translational initiation|up-regulation of translational initiation|activation of translational initiation	http://purl.obolibrary.org/obo/GO_0045948	Any process that activates or increases the frequency, rate or extent of translational initiation.	
MONDO:0018217	Koolen-de Vries syndrome due to a point mutation	biolink:Disease	mondo	ICD10:Q93.5|UMLS:CN204741|Orphanet:363965	ordo_etiological_subtype		http://purl.obolibrary.org/obo/MONDO_0018217		ORPHA:363965|UMLS:CN204741
MONDO:0018216	17q21.31 microdeletion syndrome	biolink:Disease	mondo	UMLS:CN204740|ICD10:Q93.5|Orphanet:363958	ordo_etiological_subtype	Del(17)(q21.31)|monosomy 17q21.31	http://purl.obolibrary.org/obo/MONDO_0018216		ORPHA:363958|UMLS:CN204740
MONDO:0018219		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018219		
GO:0045944	positive regulation of transcription by RNA polymerase II	biolink:OntologyClass	mondo			up-regulation of global transcription from RNA polymerase II promoter|upregulation of transcription from RNA polymerase II promoter|activation of transcription from RNA polymerase II promoter|stimulation of transcription from RNA polymerase II promoter|activation of global transcription from RNA polymerase II promoter|upregulation of global transcription from RNA polymerase II promoter|positive regulation of global transcription from Pol II promoter|positive regulation of gene-specific transcription from RNA polymerase II promoter|up-regulation of transcription from RNA polymerase II promoter|stimulation of global transcription from RNA polymerase II promoter|up regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter, global|positive regulation of transcription from Pol II promoter|positive regulation of transcription from RNA polymerase II promoter|up regulation of global transcription from RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_0045944	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.	
MONDO:0018218	autosomal recessive cerebral atrophy	biolink:Disease	mondo	UMLS:CN204742|Orphanet:363969|ICD10:G31.8	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018218		ORPHA:363969|UMLS:CN204742
MONDO:0018213	hereditary sensory and autonomic neuropathy type 1	biolink:Disease	mondo	GARD:6635|PMID:18348718|SCTID:397734008|DOID:0070162|ICD10:G60.8|Orphanet:36386|GARD:0006635	ordo_disease	HSAN 1|hereditary sensory and autonomic neuropathy type I|HSAN1|neuropathy hereditary sensory and autonomic type 1|HSN1|neuropathy hereditary sensory radicular, autosomal dominant|hereditary sensory neuropathy type 1	http://purl.obolibrary.org/obo/MONDO_0018213	Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset.	ORPHA:36386|SNOMEDCT:397734008|DOID:0070162|UMLS:C0020071
GO:0031399	regulation of protein modification process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0031399	Any process that modulates the frequency, rate or extent of the covalent alteration of one or more amino acid residues within a protein.	
MONDO:0018212	familial cervical artery dissection	biolink:Disease	mondo	Orphanet:36382|ICD10:I72.5|ICD10:I72.0|UMLS:CN204734	ordo_disease	familial CAD|hereditary CAD|hereditary cervical artery dissection	http://purl.obolibrary.org/obo/MONDO_0018212	An instance of cervical artery dissection that is caused by an inherited modification of the individual's genome.	ORPHA:36382|UMLS:CN204734
MONDO:0018215	paraneoplastic neurologic syndrome	biolink:Disease	mondo	MedDRA:10072106|GARD:0007326|SCTID:192877007|Orphanet:36388|ICD9:331.89	ordo_group_of_disorders	paraneoplastic cerebellar degeneration|paraneoplastic syndrome of nervous system|PNS|nervous system paraneoplastic syndrome|PCD	http://purl.obolibrary.org/obo/MONDO_0018215	A paraneoplastic syndrome that involves the nervous system.	UMLS:C3267031|SNOMEDCT:192877007|ORPHA:36388|MEDDRA:10072106
MONDO:0021856	Alsing syndrome	biolink:Disease	mondo	MESH:C536588|UMLS:C2931255|GARD:0009213	gard_rare	atypical macular coloboma, familial juvenile nephronophthisis and skeletal abnormality	http://purl.obolibrary.org/obo/MONDO_0021856	An autosomal recessive, oculo-reno-skeletal syndrome characterized by bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion.	UMLS:C2931255|MESH:C536588
MONDO:0018214	generalized epilepsy with febrile seizures plus	biolink:Disease	mondo	Orphanet:36387|ICD10:G40.3|MESH:C565808|NCIT:C122811|OMIMPS:604233|UMLS:C3502809|SCTID:699688008|DOID:0060170	ordo_disease	generalized epilepsy with febrile seizures-plus|GEFS+|epilepsy, generalized, with febrile seizures plus	http://purl.obolibrary.org/obo/MONDO_0018214	Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS).	NCIT:C122811|SNOMEDCT:699688008|UMLS:C3502809|MESH:C565808|DOID:0060170|ORPHA:36387
MONDO:0018211	Balint syndrome	biolink:Disease	mondo	SCTID:765212008|UMLS:C0270706|Orphanet:363746|ICD10:H51.8	ordo_disease	psychic paralysis of visual fixation|Balint-Holmes syndrome|optic ataxia-gaze apraxia-simultanagnosia syndrome	http://purl.obolibrary.org/obo/MONDO_0018211	Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalomologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time.	ORPHA:363746|UMLS:C0270706|SNOMEDCT:765212008
MONDO:0018210	Alexander disease type II	biolink:Disease	mondo	UMLS:CN204730|ICD10:E75.2|Orphanet:363722	ordo_clinical_subtype	AxD type II	http://purl.obolibrary.org/obo/MONDO_0018210	Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms.	UMLS:CN204730|ORPHA:363722
MONDO:0018282	qualitative or quantitative defects of alpha-dystroglycan	biolink:Disease	mondo	ICD10:G71.2|Orphanet:371024	ordo_group_of_disorders	dystroglycanopathy|Alpha-dystroglycanopathy	http://purl.obolibrary.org/obo/MONDO_0018282		ORPHA:371024
MONDO:0033839	osteoradionecrosis of the mandible	biolink:Disease	mondo	Orphanet:521127	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0033839		ORPHA:521127
MONDO:0018281	congenital muscular dystrophy with hyperlaxity	biolink:Disease	mondo	ICD10:G71.2|Orphanet:371007|SCTID:763314009	ordo_disease	CMDH	http://purl.obolibrary.org/obo/MONDO_0018281	Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time.	ORPHA:371007|SNOMEDCT:763314009
MONDO:0018284	congenital disorder of glycosylation with neurological involvement	biolink:Disease	mondo	Orphanet:371047|ICD10:E77.8	ordo_group_of_disorders	CDG with neurological involvement	http://purl.obolibrary.org/obo/MONDO_0018284		ORPHA:371047
MONDO:0033838	radiation-induced plexopathy	biolink:Disease	mondo	Orphanet:521123	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0033838		ORPHA:521123
MONDO:0018283	primary qualitative or quantitative defects of alpha-dystroglycan	biolink:Disease	mondo	Orphanet:371040|ICD10:G71.2	ordo_group_of_disorders	primary dystroglycanopathy|primary alpha-dystroglycanopathy	http://purl.obolibrary.org/obo/MONDO_0018283		ORPHA:371040
MONDO:0018280	muscle-eye-brain disease with bilateral multicystic leucodystrophy	biolink:Disease	mondo	ICD10:G71.2|Orphanet:370997	ordo_disease	MEB disease with bilateral multicystic leucodystrophy	http://purl.obolibrary.org/obo/MONDO_0018280	Muscle-eye-brain (MEB) disease with bilateral multicystic leucodystrophy is a form of congenital muscular alpha-dystroglycanopathy with brain and eye anomaly characterized by severe muscle-eye-brain disease-like phenotype associated with macrocephaly and extended bilateral multicystic white matter disease, overlapping with the cerebral findings in patients with megalencephalic leukoencephalopathy with subcortical cysts.	ORPHA:370997
MONDO:0006299	obsolete mediastinal neuroblastoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006299		
MONDO:0006297	maxillary sinus adenoid cystic carcinoma	biolink:Disease	mondo	DOID:7198|NCIT:C6239|UMLS:C1334643|EFO:1000365		adenoid cystic carcinoma of maxillary sinus|maxillary sinus adenoid cystic carcinoma|adenoid cystic carcinoma of the maxillary sinus	http://purl.obolibrary.org/obo/MONDO_0006297	An adenoid cystic carcinoma that arises from the maxillary sinus. It usually has an aggressive clinical course.	DOID:7198|UMLS:C1334643|NCIT:C6239
NCBITaxon:9903	Bos	organism taxon	mondo	GC_ID:1		oxen, cattle	http://purl.obolibrary.org/obo/NCBITaxon_9903		
MONDO:0006298	mediastinal malignant germ cell tumor	biolink:Disease	mondo	EFO:1000366|SCTID:713293002|NCIT:C6446|UMLS:C1334597		malignant germ cell tumor of the mediastinum|malignant germ cell tumor of mediastinum|mediastinal malignant germ cell tumor|thymic malignant germ cell tumor|malignant germ cell neoplasm of the mediastinum|malignant mediastinal germ cell neoplasm|malignant germ cell neoplasm of mediastinum|malignant mediastinal germ cell tumor|mediastinal germ cell tumor, malignant	http://purl.obolibrary.org/obo/MONDO_0006298	An extragonadal malignant germ cell tumor that arises from the mediastinum. This category includes seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, mixed germ cell tumors, and immature malignant teratoma.	UMLS:C1334597|SNOMEDCT:713293002|NCIT:C6446
MONDO:0006295	malignant urinary system neoplasm	biolink:Disease	mondo	ICD10:C64.C68|DOID:3996|EFO:1000363|ICD9:189.9|NCIT:C9297|SCTID:448233000|ICD10:C68.9		malignant renal system neoplasm|urothelial/bladder cancer, NOS|malignant neoplasm of renal system|urinary system cancer|malignant urinary tract neoplasm|malignant urinary system neoplasm|cancer of renal system|renal system cancer|urothelial tract/bladder cancer, NOS	http://purl.obolibrary.org/obo/MONDO_0006295	A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas.	NCIT:C9297|SNOMEDCT:448233000|DOID:3996
MONDO:0006296	obsolete mast cell sarcoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006296		
MONDO:0006293	obsolete malignant mixed neoplasm	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006293		
MONDO:0006294	pleural cancer	biolink:Disease	mondo	ICD9:163|ICD9:163.9|NCIT:C3547|EFO:1000362|DOID:5158|ICD10:C38.4|ICD9:163.8|UMLS:C0153494|SCTID:363433009|COHD:4180795		malignant tumor of the pleura|malignant pleura neoplasm|malignant pleural tumor|malignant neoplasm of pleura|pleural cancer|malignant neoplasm of the pleura|neoplasm of pleura|malignant pleural neoplasm|pleural tumor|cancer of pleura|pleura cancer|cancer of the pleura|malignant tumor of pleura	http://purl.obolibrary.org/obo/MONDO_0006294	A primary or metastatic malignant neoplasm affecting the pleura. A representative example of primary malignant pleural neoplasm is the malignant pleural mesothelioma. A representative example of metastatic malignant neoplasm to the pleura is metastatic carcinoma that has spread to the pleura from another anatomic site.	NCIT:C3547|DOID:5158|SNOMEDCT:363433009|UMLS:C0153494
MONDO:0006291	malignant jugulotympanic paraganglioma	biolink:Disease	mondo	EFO:1000353|UMLS:C0347856|NCIT:C4623		malignant glomus jugulare tumor|malignant jugular body neoplasm|malignant tumor of the glomus jugulare|cancer of jugular body|malignant tumor of glomus jugulare|malignant glomus jugulare neoplasm|malignant neoplasm of jugular body|malignant neoplasm of the glomus jugulare|jugular body cancer|malignant neoplasm of glomus jugulare|malignant jugulotympanic paraganglioma	http://purl.obolibrary.org/obo/MONDO_0006291	A jugulotympanic paraganglioma that metastasizes to other anatomic sites.	NCIT:C4623|UMLS:C0347856
GO:0070914	UV-damage excision repair	biolink:OntologyClass	mondo			AER|alternative excision repair|UV-damaged DNA endonuclease-dependent excision repair|UVDE-dependent excision repair|UVER	http://purl.obolibrary.org/obo/GO_0070914	A DNA repair process that is initiated by an endonuclease that introduces a single-strand incision immediately 5' of a UV-induced damage site. UV-damage excision repair acts on both cyclobutane pyrimidine dimers (CPDs) and pyrimidine-pyrimidone 6-4 photoproducts (6-4PPs).	
MONDO:0006292	malignant mesothelioma (disease)	biolink:Disease	mondo	ICD10:C45.0|ICDO:9050/3|UMLS:C0278752|ICD9:199.1|EFO:1000355|NCIT:C4456|UMLS:C0345967|OMIM:156240|MESH:C562839|SCTID:109378008|DOID:1790|UMLS:C1332338|HP:0100001|GARD:0007026|MedDRA:10027406|Orphanet:50251	ordo_disease	malignant mesothelioma|malignant tumor of the mesothelium|asbestos-related malignant mesothelioma|diffuse malignant mesothelioma|mesothelioma, malignant|MESOM|malignant tumor of mesothelium|mesothelioma, malignant; MESOM|malignant mesothelial neoplasm|malignant mesothelial tumor|malignant neoplasm of the mesothelium|malignant neoplasm of mesothelium|advanced malignant mesothelioma	http://purl.obolibrary.org/obo/MONDO_0006292	A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos.	UMLS:C1332338|UMLS:C0345967|UMLS:C0278752|SNOMEDCT:109378008|MEDDRA:10027406|DOID:1790|MESH:C562839|NCIT:C4456|http://identifiers.org/omim/156240|ORPHA:50251
MONDO:0006290	malignant germ cell tumor	biolink:Disease	mondo	NCIT:C4925|EFO:1000352|UMLS:C4048549|GARD:0003360|SCTID:145831000119103	gard_rare	malignant tumor of the germ cell|germ cell cancer, NOS|malignant tumor of germ cell|malignant germ cell neoplasm|germ cell tumor, malignant|malignant neoplasm of germ cell|germ cell cancer|malignant neoplasm of the germ cell|cancer of germ cell|malignant germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0006290	A gonadal or extragonadal malignant neoplasm that arises from germ cells. Representative examples include embryonal carcinoma, yolk sac tumor, and seminoma.	SNOMEDCT:145831000119103|UMLS:C4048549|NCIT:C4925
MONDO:0018289	congenital disorder of glycosylation with dilated cardiomyopathy	biolink:Disease	mondo	Orphanet:371176|ICD10:E77.8	ordo_group_of_disorders	CDG with dilated cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0018289		ORPHA:371176
MONDO:0018286	non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	biolink:Disease	mondo	ICD10:E77.8|Orphanet:371064	obsoletion_candidate|ordo_group_of_disorders	non-X-linked CDG with intellectual disability as a major feature	http://purl.obolibrary.org/obo/MONDO_0018286		ORPHA:371064
MONDO:0018285	X-linked congenital disorder of glycosylation with intellectual disability as a major feature	biolink:Disease	mondo	ICD10:E77.8|Orphanet:371054	obsoletion_candidate|ordo_group_of_disorders	X-linked CDG with intellectual disability as a major feature	http://purl.obolibrary.org/obo/MONDO_0018285		ORPHA:371054
MONDO:0018288	congenital disorder of glycosylation with hepatic involvement	biolink:Disease	mondo	Orphanet:371157|ICD10:E77.8	ordo_group_of_disorders	CDG with hepatic involvement	http://purl.obolibrary.org/obo/MONDO_0018288		ORPHA:371157
MONDO:0018287	congenital disorder of glycosylation with epilepsy as a major feature	biolink:Disease	mondo	ICD10:E77.8|Orphanet:371071	ordo_group_of_disorders|obsoletion_candidate	CDG with epilepsy as a major feature	http://purl.obolibrary.org/obo/MONDO_0018287		ORPHA:371071
MONDO:0018271	peripheral primitive neuroectodermal tumor	biolink:Disease	mondo	ICDO:9364/3|UMLS:C3489398|NCIT:C9341|ICD10:C71.9|UMLS:C0684337|Orphanet:370348	ordo_disease	PPNET|peripheral neuroectodermal neoplasm|pPNET|peripheral primitive neuroectodermal tumor|peripheral PNET|peripheral neuroepithelioma|peripheral primitive neuroectodermal neoplasm|peripheral neuroectodermal tumor	http://purl.obolibrary.org/obo/MONDO_0018271	A small round cell tumor with neural differentiation arising from the soft tissues or bone.	NCIT:C9341|UMLS:C3489398|UMLS:C0684337|ORPHA:370348
MONDO:0018270	extraskeletal Ewing sarcoma	biolink:Disease	mondo	Orphanet:370334|NCIT:C7135|UMLS:C0279980|ICD10:C49.9|DOID:4232|UMLS:CN204849	ordo_disease	extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor|extraosseous Ewing's sarcoma|extraskeletal Ewing tumor|extraosseous Ewing's tumor|extraosseous Ewing tumor|extraosseous Ewing sarcoma|extraskeletal Ewing sarcoma|EOE|Extra-osseous Ewing's sarcoma|extraskeletal Ewing's sarcoma	http://purl.obolibrary.org/obo/MONDO_0018270	A rare malignant neoplasm of the soft tissues. It is typically a disease of children and young adults. Most commonly occurs in the paravertebral region, chest wall, pelvis and lower extremities. Treatment includes local excision with consideration for post-operative chemotherapy and/or radiotherapy.	UMLS:C0279980|DOID:4232|NCIT:C7135|ORPHA:370334|UMLS:CN204849
MONDO:0018273	XYLT1-CDG	biolink:Disease	mondo	UMLS:CN204859|ICD10:E77.8|Orphanet:370930	ordo_disease	XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation	http://purl.obolibrary.org/obo/MONDO_0018273		UMLS:CN204859|ORPHA:370930
MONDO:0018272	obsolete small cell carcinoma of the ovary	biolink:Disease	mondo			ovary small cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0018272	A small cell carcinoma that involves the ovary.	
HGNC:21732	ANTXR2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21732		
HGNC:21734	LHX4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21734		
NCBITaxon:9913	Bos taurus	organism taxon	mondo	GC_ID:1		Bos bovis|Bos primigenius taurus|dairy cow|cow|domestic cow|domestic cattle|cattle|bovine	http://purl.obolibrary.org/obo/NCBITaxon_9913		
HP:0030669	Abnormal ocular adnexa morphology	biolink:PhenotypicFeature	mondo	UMLS:C4073120			http://purl.obolibrary.org/obo/HP_0030669	A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.	
MONDO:0018279	congenital muscular dystrophy without intellectual disability	biolink:Disease	mondo	ICD10:G71.2|Orphanet:370980	ordo_disease	CMD without intellectual disability|congenital muscular dystrophy-dystroglycanopathy without intellectual disability|CMD-no MR	http://purl.obolibrary.org/obo/MONDO_0018279		ORPHA:370980
MONDO:0033853	congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome	biolink:Disease	mondo	Orphanet:521432	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0033853		ORPHA:521432
MONDO:0018278	congenital muscular dystrophy with intellectual disability	biolink:Disease	mondo	Orphanet:370968|ICD10:G71.2	ordo_disease	CMD with intellectual disability|CMD-MR	http://purl.obolibrary.org/obo/MONDO_0018278		ORPHA:370968
MONDO:0033850	autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect	biolink:Disease	mondo	Orphanet:521411	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0033850		ORPHA:521411
MONDO:0018275	obsolete salt and pepper syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018275		
MONDO:0018274	GM3 synthase deficiency	biolink:Disease	mondo	OMIM:609056|ICD10:E77.8|Orphanet:171714|Orphanet:370938|UMLS:CN204860|Orphanet:370933|GARD:0012059|DOID:0060470|UMLS:C1836824|SCTID:722762005	ordo_group_of_disorders	infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome|infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness|salt-and-pepper syndrome|disorder of lactosylceramide alpha-2,3-sialyltransferase activity|disorder of lactosylceramide alpha-2,3-sialyltransferase activity|salt and pepper developmental regression syndrome|ST3GAL5-CDG|salt and pepper developmental regression syndrome; SPDRS|lactosylceramide alpha-2,3-sialyltransferase activity disease|Amish infantile epilepsy syndrome|salt & pepper syndrome|salt and pepper mental retardation syndrome|SPDRS|epilepsy syndrome, infantile-onset symptomatic	http://purl.obolibrary.org/obo/MONDO_0018274	GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications.	UMLS:CN204860|http://identifiers.org/omim/609056|ORPHA:370938|ORPHA:370933|SNOMEDCT:722762005|ORPHA:171714|DOID:0060470|UMLS:C1836824
MONDO:0018277	congenital muscular dystrophy with cerebellar involvement	biolink:Disease	mondo	ICD10:G71.2|Orphanet:370959	ordo_disease	CMD with cerebellar involvement|CMD-CRB	http://purl.obolibrary.org/obo/MONDO_0018277		ORPHA:370959
MONDO:0018276	muscular dystrophy-dystroglycanopathy	biolink:Disease	mondo	ICD10:G71.2|GARD:0012584|DOID:0050588|Orphanet:370953|UMLS:CN229783	ordo_group_of_disorders	congenital muscular dystrophy due to dystroglycanopathy|CMD due to dystroglycanopathy	http://purl.obolibrary.org/obo/MONDO_0018276		UMLS:CN229783|ORPHA:370953|DOID:0050588
MONDO:0018260	scalp syndrome	biolink:Disease	mondo	ICD10:Q84.8|Orphanet:370052	ordo_disease	sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome|sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome	http://purl.obolibrary.org/obo/MONDO_0018260		ORPHA:370052
MONDO:0018262	fetal anticonvulsant syndrome	biolink:Disease	mondo	ICD10:Q86.8|Orphanet:370068|UMLS:C1739111	ordo_group_of_disorders	FACS|fetal antiepileptic drug syndrome|fetal AEDS	http://purl.obolibrary.org/obo/MONDO_0018262		UMLS:C1739111|ORPHA:370068
MONDO:0018261	Nevada syndrome	biolink:Disease	mondo	UMLS:CN204836|Orphanet:370059|ICD10:Q84.8	ordo_disease	Nevus epidermicus verrucosus with angiodysplasia and aneurysms	http://purl.obolibrary.org/obo/MONDO_0018261	NEVADA (Nevus Epidermicus Verrucosus with AngioDysplasia and Aneurysms) syndrome is a rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period.	UMLS:CN204836|ORPHA:370059
MONDO:0033856	LAMA5-related multisystemic syndrome	biolink:Disease	mondo	Orphanet:521450	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0033856		ORPHA:521450
HGNC:21701	BRAT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21701		
MONDO:0006279	lung sarcomatoid carcinoma	biolink:Disease	mondo	ICD9:162.9|ONCOTREE:SARCL|EFO:1000336|SCTID:707460002|NCIT:C45540		sarcomatoid carcinoma of the lung|lung sarcomatoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0006279	A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor.	SNOMEDCT:707460002|NCIT:C45540
MONDO:0006277	lung lymphangioleiomyomatosis	biolink:Disease	mondo	ICD9:518.89|MESH:D018192|Orphanet:538|OMIM:606690|DOID:3319|MedDRA:10049459|GARD:0003319|NCIT:C38153|EFO:1000334|ICD10:D48.7|ONCOTREE:LAM|COHD:4174275|SCTID:277844007		lung lymphangioleiomyomatosis|pulmonary lymphangiomyomatosis|lymphangioleiomyomatosis|lung lymphangiomyomatosis|lymphangiomyomatosis|pulmonary lymphangioleiomyomatosis	http://purl.obolibrary.org/obo/MONDO_0006277	Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course.	NCIT:C38153|MEDDRA:10049459|ORPHA:538|SNOMEDCT:277844007|http://identifiers.org/omim/606690|UMLS:C0751674|DOID:3319|MESH:D018192
HP:0030674	Antenatal onset	biolink:PhenotypicFeature	mondo	UMLS:C2673646			http://purl.obolibrary.org/obo/HP_0030674	Onset prior to birth.	
MONDO:0006278	lung papilloma	biolink:Disease	mondo	NCIT:C8295|UMLS:C0281373|EFO:1000335		respiratory tract papilloma|lung papilloma|papilloma of the respiratory tract|papilloma of respiratory tract	http://purl.obolibrary.org/obo/MONDO_0006278	A benign papillary neoplasm that arises endobronchially. It is classified as squamous cell, glandular, or mixed squamous cell and glandular papilloma. Patients usually present with signs and symptoms of bronchial obstruction.	NCIT:C8295|UMLS:C0281373
MONDO:0006275	lung giant cell carcinoma	biolink:Disease	mondo	MESH:D018286|DOID:5583|ICD9:162.9|UMLS:C0206703|SCTID:254631008|UMLS:C0345960|EFO:1000332|NCIT:C4452|ONCOTREE:GCLC		giant cell lung carcinoma|giant cell carcinoma|lung giant cell carcinoma|giant cell carcinoma of lung|giant cell carcinoma of the lung|GCLC	http://purl.obolibrary.org/obo/MONDO_0006275	A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion.	NCIT:C4452|SNOMEDCT:254631008|UMLS:C0345960|DOID:5583|UMLS:C0206703|MESH:D018286
MONDO:0006276	lung inflammatory myofibroblastic tumor	biolink:Disease	mondo	ICDO:8827/1|UMLS:C1518038|ONCOTREE:IMTL|EFO:1000333|NCIT:C39740		lung inflammatory myofibroblastic tumor|inflammatory myofibroblastic lung tumor	http://purl.obolibrary.org/obo/MONDO_0006276	An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.	NCIT:C39740|UMLS:C1518038
MONDO:0006273	low grade fibromyxoid sarcoma with giant collagen rosettes	biolink:Disease	mondo	EFO:1000329|UMLS:C1708749|NCIT:C45203		hyalinizing spindle cell tumor with giant Rosettes	http://purl.obolibrary.org/obo/MONDO_0006273	A low grade fibromyxoid sarcoma characterized by the presence of prominent collagen rosettes.	UMLS:C1708749|NCIT:C45203
MONDO:0006274	low grade vulvar intraepithelial neoplasia	biolink:Disease	mondo	NCIT:C4760|UMLS:C0495106|EFO:1000330		vulvar flat condyloma|VIN 1 of usual type|VIN 1|grade I VIN|grade 1 vulvar intraepithelial neoplasia|vulvar intraepithelial neoplasia grade 1|vulva intraepithelial neoplasia grade 1|low grade VIN|vulvar mild squamous dysplasia|vulvar intraepithelial neoplasia 1 of usual type|vulvar Low-grade squamous intraepithelial lesion|VIN grade 1|grade 1 VIN|grade I vulvar intraepithelial neoplasia|intraepithelial neoplasia of the vulva grade 1|intraepithelial neoplasia of vulva grade 1|vulvar Low grade squamous intraepithelial lesion	http://purl.obolibrary.org/obo/MONDO_0006274	An intraepithelial lesion of the vulvar squamous epithelium that represents the clinical and morphological manifestation of a productive HPV infection. Low grade refers to the associated low risk of concurrent or future cancer. (WHO, 2014)	NCIT:C4760|UMLS:C0495106
MONDO:0006271	low grade central osteosarcoma	biolink:Disease	mondo	EFO:1000327|ONCOTREE:LGCOS|UMLS:C3814534|ICDO:9187/3|NCIT:C6474|UMLS:C1266163		low grade central osteosarcoma|intraosseous well-differentiated osteogenic sarcoma|low-grade intramedullary osteosarcoma|low grade intramedullary osteosarcoma|intraosseous well-differentiated osteosarcoma|low-grade central osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0006271	A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma.	UMLS:C1266163|UMLS:C3814534|NCIT:C6474
MONDO:0006272	low grade fibromyxoid sarcoma	biolink:Disease	mondo	EFO:1000328|ICD9:171.9|UMLS:C1275282|NCIT:C45202|SCTID:404088004|ONCOTREE:LGFMS		low grade fibromyxoid sarcoma|low-grade fibromyxoid sarcoma	http://purl.obolibrary.org/obo/MONDO_0006272	A low grade, late-metastasizing variant of fibrosarcoma characterized by alternating fibrous and myxoid areas and a whorling growth pattern. The neoplastic cells have a spindle morphology, and lack hyperchromasia or significant nuclear atypia. Approximately 40% of cases show the focal presence of collagen rosettes. A t(7;16)(q33;p11) translocation has been identified in the majority of cases, associated with the presence of FUS-CREB3L2 fusion protein. Rare cases carry the t(11;16)(p11;p11) translocation which is associated with the presence of the FUS-CREB3L1 fusion protein.	SNOMEDCT:404088004|NCIT:C45202|UMLS:C1275282
MONDO:0006270	lobular breast carcinoma in situ	biolink:Disease	mondo	EFO:1000326|SCTID:109888004|UMLS:C0279563|NCIT:C4018|ONCOTREE:LCIS|UMLS:C0334381|ICDO:8520/2		non-invasive lobular carcinoma of breast|non-invasive lobular carcinoma of the breast|LCIS|non-invasive lobular breast carcinoma|lobular Ca in situ of breast|lobular Ca in situ of the breast|lobular carcinoma in situ of breast|lobular carcinoma in situ of the breast|breast lobular carcinoma in situ|non-infiltrating lobular carcinoma of breast|non-infiltrating lobular carcinoma of the breast|lobular carcinoma in situ (LCIS)|lobular carcinoma in situ|non-infiltrating lobular breast carcinoma|lobular breast carcinoma in situ|lobular carcinoma in situ of the breast (LCIS)|non-infiltrating lobular carcinoma	http://purl.obolibrary.org/obo/MONDO_0006270	A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma.	UMLS:C0334381|UMLS:C0279563|SNOMEDCT:109888004|NCIT:C4018
MONDO:0018268	Medich giant platelet syndrome	biolink:Disease	mondo	Orphanet:370127|ICD10:D69.1|UMLS:CN204847|UMLS:C4305375|SCTID:718554005	ordo_disease	Medich macrothrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0018268	Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding.	ORPHA:370127|SNOMEDCT:718554005|UMLS:CN204847|UMLS:C4305375
MONDO:0033864	infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	biolink:Disease	mondo	Orphanet:522077|OMIM:618218	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0033864		ORPHA:522077|http://identifiers.org/omim/618218
MONDO:0018267	combined cervical dystonia	biolink:Disease	mondo	ICD10:G24.3|Orphanet:370114	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018267		ORPHA:370114
MONDO:0033862	primary autoimmune enteropathy	biolink:Disease	mondo	Orphanet:522037	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0033862		ORPHA:522037
MONDO:0018269	white platelet syndrome	biolink:Disease	mondo	ICD10:D69.1|UMLS:C2931293|MESH:C536702|Orphanet:370131|GARD:0009282|SCTID:718553004	ordo_disease|gard_rare	platelet granule deficiency disorder	http://purl.obolibrary.org/obo/MONDO_0018269	White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding.	UMLS:C2931293|ORPHA:370131|SNOMEDCT:718553004|MESH:C536702
MONDO:0018264	oculocutaneous albinism type 6	biolink:Disease	mondo	Orphanet:370097|SCTID:722058005|DOID:0080614|ICD10:E70.3|UMLS:C3805375|OMIM:113750	ordo_disease	OCA6|skin/hair/eye pigmentation 4, fair/dark skin|skin/hair/eye pigmentation, variation In, 4|albinism, oculocutaneous, type VI; OCA6	http://purl.obolibrary.org/obo/MONDO_0018264	A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity.	UMLS:C3805375|http://identifiers.org/omim/113750|DOID:0080614|SNOMEDCT:722058005|ORPHA:370097
MONDO:0018263	fetal carbamazepine syndrome	biolink:Disease	mondo	UMLS:CN204839|Orphanet:370076|ICD10:Q86.8|UMLS:C0432370|SCTID:254249002|ICD9:760.8	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018263	A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to carbamazepine and that is characterized by facial dysmorphism, with some similarities to that seen in fetal valproate syndrome (see this term), such as epicanthal folds, upward slanting palpebral fissures, short nose, micrognathia and malar hypoplasia, as well as nail dysplasia and major anomalies including cleft lip/palate, neural tube defects and cardiac anomalies. In utero exposure to carbamazepine, in combination with valproate, has been associated with significant developmental delay (particularly affecting verbal intelligence) and a high rate of congenital anomalies.	UMLS:CN204839|UMLS:C0432370|SNOMEDCT:254249002|ORPHA:370076
MONDO:0018266	ataxia - telangiectasia variant	biolink:Disease	mondo	UMLS:C1876175|ICD10:G11.3|Orphanet:370109	ordo_disease	v-AT	http://purl.obolibrary.org/obo/MONDO_0018266	Ataxia-telangiectasia variant is a rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present.	ORPHA:370109|UMLS:C1876175
MONDO:0018265	rare disorder with dystonia and other neurologic or systemic manifestation	biolink:Disease	mondo	Orphanet:370106|UMLS:CN227296	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0018265		ORPHA:370106|UMLS:CN227296
HP:0040006	Mortality/Aging	biolink:PhenotypicFeature	mondo	UMLS:C4022499			http://purl.obolibrary.org/obo/HP_0040006		
MONDO:0018251	glycogen storage disease due to phosphorylase kinase deficiency	biolink:Disease	mondo	UMLS:C0268147|SCTID:235908005|NCIT:C122662|Orphanet:370|MESH:C580130|SCTID:40191005|ICD10:E74.0|DOID:0050594	ordo_group_of_disorders	GSDIX|gycogenosis due to PhK deficiency|glycogen storage disease type 9|GSD due to phosphorylase kinase deficiency|GSD type IX|GSD type 9|glycogenosis due to phosphorylase kinase deficiency|glycogen storage disease IX|glycogenosis type 9|glycogen storage disease type IX|glycogen storage disease due to PhK deficiency|glycogenosis type IX|GSD IX|phosphorylase kinase deficiency	http://purl.obolibrary.org/obo/MONDO_0018251	Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency.	SNOMEDCT:235908005|UMLS:C0268147|NCIT:C122662|ORPHA:370|DOID:0050594|SNOMEDCT:40191005|MESH:C580130
MONDO:0018250	diffuse palmoplantar keratoderma with painful fissures	biolink:Disease	mondo	ICD10:Q82.8|UMLS:CN204824|Orphanet:369999	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018250		UMLS:CN204824|ORPHA:369999
GO:0045985	positive regulation of pyrimidine nucleobase metabolic process	biolink:OntologyClass	mondo			up-regulation of pyrimidine base metabolic process|up regulation of pyrimidine base metabolic process|positive regulation of pyrimidine base metabolic process|activation of pyrimidine base metabolic process|stimulation of pyrimidine base metabolic process|upregulation of pyrimidine base metabolic process|positive regulation of pyrimidine base metabolism	http://purl.obolibrary.org/obo/GO_0045985	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving pyrimidine nucleobases.	
HP:0030682	Left ventricular noncompaction	biolink:PhenotypicFeature	mondo	UMLS:C1960469			http://purl.obolibrary.org/obo/HP_0030682	Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer.	
GO:0045983	positive regulation of purine nucleobase metabolic process	biolink:OntologyClass	mondo			positive regulation of purine base metabolic process|activation of purine base metabolic process|positive regulation of purine base metabolism|stimulation of purine base metabolic process|upregulation of purine base metabolic process|up-regulation of purine base metabolic process|up regulation of purine base metabolic process	http://purl.obolibrary.org/obo/GO_0045983	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving purine bases.	
MONDO:0006288	malignant adrenal gland pheochromocytoma	biolink:Disease	mondo	EFO:1000348|ICDO:8700/3|UMLS:C0334419|DOID:0080347|NCIT:C4220|SCTID:21851000119103		malignant pheochromocytoma|malignant adrenal gland Chromaffinoma|malignant adrenal gland chromaffin paraganglioma|malignant adrenal medullary pheochromocytoma|malignant adrenal pheochromocytoma|malignant adrenal gland paraganglioma|malignant adrenal gland pheochromocytoma|malignant adrenal gland chromaffin tumor|malignant adrenal medullary paraganglioma|adrenal gland pheochromocytoma, malignant|pheochromoblastoma|malignant adrenal gland chromaffin neoplasm|pheochromocytoma, malignant	http://purl.obolibrary.org/obo/MONDO_0006288	A pheochromocytoma that metastasizes to other anatomic sites. Common sites of metastasis include lymph nodes, bones, liver, and lung. Morphologic features associated with malignant pheochromocytomas include: atypical mitotic figures, capsular and vascular invasion, tumor cell necrosis, and high mitotic activity.	SNOMEDCT:21851000119103|NCIT:C4220|UMLS:C0334419|DOID:0080347
GO:0045984	negative regulation of pyrimidine nucleobase metabolic process	biolink:OntologyClass	mondo			inhibition of pyrimidine base metabolic process|downregulation of pyrimidine base metabolic process|negative regulation of pyrimidine base metabolism|down-regulation of pyrimidine base metabolic process|negative regulation of pyrimidine base metabolic process|down regulation of pyrimidine base metabolic process	http://purl.obolibrary.org/obo/GO_0045984	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving pyrimidine nucleobases.	
MONDO:0006289	obsolete malignant epitheloid mesothelioma	biolink:Disease	mondo	EFO:1000351			http://purl.obolibrary.org/obo/MONDO_0006289		
MONDO:0006286	major salivary gland mucoepidermoid carcinoma	biolink:Disease	mondo	EFO:1000346|UMLS:C1334551|NCIT:C5906		major salivary gland mucoepidermoid carcinoma|major salivary gland mucoepidermoid cancer|mucoepidermoid carcinoma of Major salivary gland|mucoepidermoid carcinoma of the Major salivary gland	http://purl.obolibrary.org/obo/MONDO_0006286	A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome.	NCIT:C5906|UMLS:C1334551
GO:0045981	positive regulation of nucleotide metabolic process	biolink:OntologyClass	mondo			upregulation of nucleotide metabolic process|positive regulation of nucleotide metabolism|up regulation of nucleotide metabolic process|stimulation of nucleotide metabolic process|up-regulation of nucleotide metabolic process|activation of nucleotide metabolic process	http://purl.obolibrary.org/obo/GO_0045981	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nucleotides.	
MONDO:0006287	malignancy in giant cell tumor of bone	biolink:Disease	mondo	DOID:4719|NCIT:C4304|EFO:1000347|ICDO:9250/3|UMLS:C0334552		giant cell tumor of bone, malignant (morphologic abnormality)|malignancy in giant cell tumor of bone|giant cell tumor of bone, malignant|giant cell sarcoma of bone|malignancy in giant cell tumor of the bone|bone giant cell sarcoma|giant cell bone sarcoma|malignant giant cell tumor of bone|Dedifferentiated giant cell tumor|OSTEOCLASTOMA, malignant|giant cell sarcoma of the bone	http://purl.obolibrary.org/obo/MONDO_0006287	A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor).	NCIT:C4304|UMLS:C0334552|DOID:4719
GO:0045982	negative regulation of purine nucleobase metabolic process	biolink:OntologyClass	mondo			down-regulation of purine base metabolic process|negative regulation of purine base metabolic process|down regulation of purine base metabolic process|inhibition of purine base metabolic process|downregulation of purine base metabolic process|negative regulation of purine base metabolism	http://purl.obolibrary.org/obo/GO_0045982	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving purine nucleobases.	
MONDO:0006284	major salivary gland carcinoma	biolink:Disease	mondo	UMLS:C1334549|EFO:1000344|NCIT:C5907		carcinoma of Major salivary gland|carcinoma of the Major salivary gland|major salivary gland carcinoma|carcinoma of major salivary gland|major salivary gland cancer	http://purl.obolibrary.org/obo/MONDO_0006284	A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland.	NCIT:C5907|UMLS:C1334549
HP:0030680	Abnormality of cardiovascular system morphology	biolink:PhenotypicFeature	mondo	UMLS:C4049796		Cardiovascular malformations	http://purl.obolibrary.org/obo/HP_0030680	Any structural anomaly of the heart and great vessels.	
MONDO:0006285	major salivary gland carcinoma ex pleomorphic adenoma	biolink:Disease	mondo	NCIT:C5975|UMLS:C1334550|EFO:1000345		major salivary gland salivary gland carcinoma ex pleomorphic adenoma|major salivary gland carcinoma ex pleomorphic adenoma|carcinoma ex pleomorphic adenoma of Major salivary gland|carcinoma ex pleomorphic adenoma of the Major salivary gland	http://purl.obolibrary.org/obo/MONDO_0006285	A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.	NCIT:C5975|UMLS:C1334550
GO:0045980	negative regulation of nucleotide metabolic process	biolink:OntologyClass	mondo			down regulation of nucleotide metabolic process|inhibition of nucleotide metabolic process|down-regulation of nucleotide metabolic process|negative regulation of nucleotide metabolism|downregulation of nucleotide metabolic process	http://purl.obolibrary.org/obo/GO_0045980	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving nucleotides.	
HP:0030681	Abnormal morphology of myocardial trabeculae	biolink:PhenotypicFeature	mondo	UMLS:C4073289			http://purl.obolibrary.org/obo/HP_0030681	Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae).	
MONDO:0006282	lymphangiosarcoma	biolink:Disease	mondo	ICD9:171.9|UMLS:C0024224|DOID:2689|NCIT:C3205|ICDO:9170/3|SCTID:403986008|EFO:1000339|MESH:D008204		lymphangioendothelial sarcoma|lymphangiosarcoma, malignant|lymphangiosarcoma|skin lymphangiosarcoma|Stewart-Treves syndrome|lymphangiosarcoma of Stewart and Treves|malignant lymphangioendothelioma	http://purl.obolibrary.org/obo/MONDO_0006282	A malignant neoplasm arising from the endothelial cells of the lymphatic vessels.	NCIT:C3205|MESH:D008204|UMLS:C0024224|SNOMEDCT:403986008|DOID:2689
MONDO:0006283	lymphoepithelioma-like lung carcinoma	biolink:Disease	mondo	NCIT:C45519|UMLS:C1708792|EFO:1000340|ONCOTREE:LECLC		lymphoepithelioma-like carcinoma of the lung	http://purl.obolibrary.org/obo/MONDO_0006283	A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration.	UMLS:C1708792|NCIT:C45519
MONDO:0006280	lung sclerosing hemangioma	biolink:Disease	mondo	UMLS:C1509148|ICD9:228.09|NCIT:C5656|MESH:D047868|SCTID:707365008|DOID:5766|EFO:1000337|DOID:495		sclerosing hemangioma|sclerosing hemangioma of lung|sclerosing hemangioma of the lung|sclerosing haemangioma|lung sclerosing angioma|Pneumocytoma|sclerosing angioma of lung|pulmonary sclerosing hemangioma|sclerosing angioma of the lung|lung sclerosing hemangioma|sclerosing Pneumocytoma	http://purl.obolibrary.org/obo/MONDO_0006280	A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic.	UMLS:C1509148|DOID:5766|DOID:495|MESH:D047868|NCIT:C5656|SNOMEDCT:707365008
GO:0070925	organelle assembly	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0070925	The aggregation, arrangement and bonding together of a set of components to form an organelle. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane.	
MONDO:0006281	lung signet ring cell carcinoma	biolink:Disease	mondo	DOID:0080305|NCIT:C45514|SCTID:707407001|ICD9:162.9|EFO:1000338		signet ring lung adenocarcinoma|lung signet ring cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006281	A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells.	DOID:0080305|SNOMEDCT:707407001|NCIT:C45514
MONDO:0018257	familial syringomyelia	biolink:Disease	mondo	ICD10:Q06.4|Orphanet:370034|UMLS:CN204832	ordo_clinical_subtype	hereditary syringomyelia	http://purl.obolibrary.org/obo/MONDO_0018257	An instance of syringomyelia that is caused by an inherited modification of the individual's genome.	ORPHA:370034|UMLS:CN204832
MONDO:0018256	acute myeloid leukemia with t(8;16)(p11;p13) translocation	biolink:Disease	mondo	ICD10:C92.0|Orphanet:370026|UMLS:C4511003|SCTID:725390002|UMLS:CN204831	ordo_disease	AML with t(8;16)(p11;p13) translocation	http://purl.obolibrary.org/obo/MONDO_0018256	A distinct form of Acute myeloid leukemia (AML) in which this chromosomal anomaly is found de novo or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed.	UMLS:C4511003|ORPHA:370026|SNOMEDCT:725390002|UMLS:CN204831
MONDO:0018259	didymosis aplasticosebacea	biolink:Disease	mondo	ICD10:Q84.8|Orphanet:370046|UMLS:CN204834	ordo_disease	aplasia cutis congenita-nevus sebaceus syndrome	http://purl.obolibrary.org/obo/MONDO_0018259		ORPHA:370046|UMLS:CN204834
MONDO:0018258	Angora hair nevus	biolink:Disease	mondo	Orphanet:370039|ICD10:Q82.5|UMLS:CN204833	ordo_disease	Schauder syndrome	http://purl.obolibrary.org/obo/MONDO_0018258		ORPHA:370039|UMLS:CN204833
MONDO:0018253	intellectual disability-facial dysmorphism-hand anomalies syndrome	biolink:Disease	mondo	UMLS:CN204829|ICD10:Q87.0|Orphanet:370010	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0018253		ORPHA:370010|UMLS:CN204829
MONDO:0018252	focal palmoplantar keratoderma with joint keratoses	biolink:Disease	mondo	UMLS:CN204827|ICD10:Q82.8|Orphanet:370002	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018252		ORPHA:370002|UMLS:CN204827
MONDO:0018255	spondylometaphyseal dysplasia, Czarny-Ratajczak type	biolink:Disease	mondo	Orphanet:370019|ICD10:Q77.8	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018255		ORPHA:370019
MONDO:0018254	spondyloepimetaphyseal dysplasia, Isidor type	biolink:Disease	mondo	ICD10:Q77.8|Orphanet:370015	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018254		ORPHA:370015
HGNC:21708	CCM2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21708		
MONDO:0008959	CHAND syndrome	biolink:Disease	mondo	OMIM:214350|UMLS:C0406733|UMLS:CN199447|SCTID:239037001|Orphanet:1401|MESH:C538074		CHANDS|curly hair-ankyloblepharon-nail dysplasia syndrome|CHAND syndrome; CHANDS	http://purl.obolibrary.org/obo/MONDO_0008959		UMLS:CN199447|SNOMEDCT:239037001|MESH:C538074|UMLS:C0406733|ORPHA:1401|http://identifiers.org/omim/214350
MONDO:0008958	Klippel-Feil syndrome 2, autosomal recessive	biolink:Disease	mondo	DOID:0080590|UMLS:C1859209|MESH:C536888|OMIM:214300		Kfs, autosomal recessive|cervical vertebral fusion, autosomal recessive|MEOX1 isolated Klippel-Feil syndrome|isolated Klippel-Feil syndrome caused by mutation in MEOX1|KFS2|Klippel-FEIL syndrome 2, autosomal recessive; KFS2|Klippel-Feil syndrome 2, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0008958	Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the MEOX1 gene.	MESH:C536888|UMLS:C1859209|DOID:0080590|http://identifiers.org/omim/214300
MONDO:0008957	cervical vertebrae, agenesis of	biolink:Disease	mondo	OMIM:214290|MESH:C562952		cervical vertebrae, agenesis of	http://purl.obolibrary.org/obo/MONDO_0008957		MESH:C562952|http://identifiers.org/omim/214290
HGNC:1339	C6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1339		
MONDO:0008956	congenital neuronal ceroid lipofuscinosis	biolink:Disease	mondo	Orphanet:168486|GARD:0009447|SCTID:720830009|OMIM:214200|ICD10:E75.4	ordo_disease	congenital NCL|ceroid storage disease|lipofuscin storage disease	http://purl.obolibrary.org/obo/MONDO_0008956	Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy.	SNOMEDCT:720830009|ORPHA:168486|http://identifiers.org/omim/214200
CHEBI:22744	benzyl group	biolink:ChemicalSubstance	mondo			benzyl|phenylalanine side-chain|phenylmethyl|C6H5-CH2-|Bn	http://purl.obolibrary.org/obo/CHEBI_22744		
MONDO:0008955	cerebrooculofacioskeletal syndrome 1	biolink:Disease	mondo	OMIM:214150		COFS syndrome caused by mutation in ERCC6|Pena-Shokeir syndrome, type 2|cerebrooculofacioskeletal syndrome 1|cerebrooculofacioskeletal syndrome 1; COFS1|COFS syndrome|ERCC6 COFS syndrome|COFS1|cerebrooculofacioskeletal syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0008955	Any COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene.	http://identifiers.org/omim/214150
MONDO:0008954	peroxisome biogenesis disorder 2A (Zellweger)	biolink:Disease	mondo	DOID:0080477|UMLS:C3550273|OMIM:214110		peroxisome biogenesis disorder 2A (Zellweger); PBD2A|peroxisome biogenesis disorder 2A (Zellweger)|PBD2A|peroxisome biogenesis disorder, complementation group 2	http://purl.obolibrary.org/obo/MONDO_0008954		UMLS:C3550273|DOID:0080477|http://identifiers.org/omim/214110
HGNC:3999	FTL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3999		
MONDO:0008953	peroxisome biogenesis disorder 1A (Zellweger)	biolink:Disease	mondo	DOID:0080476|OMIM:214100		PBD1A|Cerebrohepatorenal syndrome|peroxisome biogenesis disorder 1A (Zellweger)|peroxisome biogenesis disorder 1A (Zellweger); PBD1A|Zs|peroxisome biogenesis disorder, complementation group E|peroxisome biogenesis disorder, complementation group 1	http://purl.obolibrary.org/obo/MONDO_0008953		DOID:0080476|http://identifiers.org/omim/214100
MONDO:0008952	cerebrofaciothoracic dysplasia	biolink:Disease	mondo	Orphanet:1394|OMIM:213980|MESH:C565862|ICD10:Q87.5|SCTID:720635002|GARD:0001210	gard_rare|ordo_malformation_syndrome	cerebro facio thoracic dysplasia|craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome; CFSMR|craniofacial dysmorphism, skeletal anomalies, and intellectual disability syndrome|pascual-Castroviejo syndrome type 1|cerebrofaciothoracic dysplasia|craniofacial dysmorphism, skeletal anomalies, and intellectual disability syndrome; CFSMR|pascual-Castroviejo syndrome|craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome|CFSMR	http://purl.obolibrary.org/obo/MONDO_0008952	Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.	http://identifiers.org/omim/213980|SNOMEDCT:720635002|ORPHA:1394|MESH:C565862
MONDO:0008951	cerebrocortical degeneration of infancy	biolink:Disease	mondo	OMIM:213950|MESH:C565863|UMLS:C1859257		cerebrocortical degeneration of infancy	http://purl.obolibrary.org/obo/MONDO_0008951		UMLS:C1859257|MESH:C565863|http://identifiers.org/omim/213950
MONDO:0008950	cerebral sclerosis similar to Pelizaeus-Merzbacher disease	biolink:Disease	mondo	OMIM:213900|MESH:C536318|GARD:0007348	gard_rare	cerebral sclerosis similar to Pelizaeus-Merzbacher disease	http://purl.obolibrary.org/obo/MONDO_0008950		MESH:C536318|http://identifiers.org/omim/213900
MONDO:0021929	traumatic myositis ossificans	biolink:Disease	mondo	ICD9:728.12|NCIT:C35081|SCTID:70917000|UMLS:C0040798		Myositis ossificans traumatica|myositis ossificans traumatica|traumatic myositis ossificans|Traumatic Myositis Ossificans|Traumatic myositis ossificans|myositis ossificans circumscripta|Myositis ossificans circumscripta	http://purl.obolibrary.org/obo/MONDO_0021929	Myositis Ossificans resulting from trauma.	NCIT:C35081|SNOMEDCT:70917000|UMLS:C0040798
UBERON:0005594	head somite	biolink:AnatomicalEntity	mondo			occipital somite|cranial somite	http://purl.obolibrary.org/obo/UBERON_0005594	Somite located in the head region, caudal to the otic vesicle	
HGNC:1346	C7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1346		
NCBITaxon:2212966	Echinococcus granulosus group	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2212966		
MONDO:0021921	Arnold stickler bourne syndrome	biolink:Disease	mondo	GARD:0000366|UMLS:C2931492|MESH:C537431	gard_rare	corneal crystals myopathy and neuropathy|corneal crystals myopathy and nephropathy	http://purl.obolibrary.org/obo/MONDO_0021921		MESH:C537431|UMLS:C2931492
MONDO:0021923	Arroyo Garcia Cimadevilla syndrome	biolink:Disease	mondo	MESH:C537439|UMLS:C2931494|GARD:0000771	gard_rare|n_of_one	bilateral anophthalmia, esophageal atresia, and right cryptorchidism	http://purl.obolibrary.org/obo/MONDO_0021923	A syndrome characterized by bilateral anophthalmia (absence of one or both eyes), esophageal atresia (the upper esophagus ends and does not connect with the lower esophagus and stomach), and cryptorchidism (a condition in which one or both of the testes fail to descend from the abdomen into the scrotum).	MESH:C537439|UMLS:C2931494
MONDO:0021925	tracheobronchitis	biolink:Disease	mondo	NCIT:C122784|SCTID:13617004|UMLS:C0040586		tracheobronchitis|Tracheobronchitis	http://purl.obolibrary.org/obo/MONDO_0021925	Inflammation of the tracheobronchial tree.	NCIT:C122784|UMLS:C0040586|SNOMEDCT:13617004
HGNC:1343	TRAF3IP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1343		
UBERON:0005599	common dorsal aorta	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005599		
UBERON:0005598	trunk somite	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005598	A somite that is part of a trunk.	
MONDO:0021927	arthrogryposis epileptic seizures migrational brain disorder	biolink:Disease	mondo	MESH:C537442|UMLS:C2931495|GARD:0000781	gard_rare	arthrogryposis multiplex congenita with epileptic seizures and migrational brain disorder	http://purl.obolibrary.org/obo/MONDO_0021927		UMLS:C2931495|MESH:C537442
UBERON:0005597	lung primordium	biolink:AnatomicalEntity	mondo			lateral diverticula|lung endoderm|lung diverticulum	http://purl.obolibrary.org/obo/UBERON_0005597	A pair of lateral diverticula just over the liver rudiment representing the primordia of the lungs, formed by the floor of the foregut just anterior to the liver diverticulum.	
MONDO:0006309	mucinous gastric adenocarcinoma	biolink:Disease	mondo	ONCOTREE:MSTAD|DOID:3716|NCIT:C5248|UMLS:C1334809|EFO:1000386		mucinous adenocarcinoma of the stomach|stomach mucinous adenocarcinoma|mucinous stomach adenocarcinoma|mucinous adenocarcinoma of stomach|mucinous gastric adenocarcinoma|MSTAD	http://purl.obolibrary.org/obo/MONDO_0006309	A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools.	DOID:3716|NCIT:C5248|UMLS:C1334809
MONDO:0006307	mixed somatotroph-lactotroph pituitary gland adenoma	biolink:Disease	mondo	EFO:1000383|UMLS:C1709052|NCIT:C45927		mixed somatotroph-lactotroph adenoma|Mixed somatotroph and lactotroph adenoma|mixed GH-PRL cell adenoma|mixed Somatolactotrope adenoma|Mixed somatotroph and lactotroph adenoma|mixed somatotroph-lactotroph pituitary gland adenoma	http://purl.obolibrary.org/obo/MONDO_0006307	An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry.	NCIT:C45927|UMLS:C1709052
MONDO:0033926	prepubertal anorexia nervosa	biolink:Disease	mondo	Orphanet:525738	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0033926		ORPHA:525738
MONDO:0008969	cholesterol pneumonia	biolink:Disease	mondo	GARD:0008500|OMIM:215030|SCTID:233728004|MESH:C535937|ICD9:516.8|UMLS:C0549472	gard_rare	familiaere cholesterin-Pneumonie|cholesterol pneumonia	http://purl.obolibrary.org/obo/MONDO_0008969		MESH:C535937|http://identifiers.org/omim/215030|UMLS:C0549472|SNOMEDCT:233728004
MONDO:0006308		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006308		
MONDO:0033925	pediatric-onset Graves disease	biolink:Disease	mondo	Orphanet:525731	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0033925		ORPHA:525731
MONDO:0008968	cholestasis with gallstone, ataxia, and visual disturbance	biolink:Disease	mondo	UMLS:C1859161|MESH:C565856|OMIM:214980		cholestasis with gallstone, ataxia, and visual disturbance	http://purl.obolibrary.org/obo/MONDO_0008968		UMLS:C1859161|MESH:C565856|http://identifiers.org/omim/214980
MONDO:0006305	obsolete mixed cell uveal melanoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006305		
MONDO:0006306	mixed lobular and ductal breast carcinoma	biolink:Disease	mondo	EFO:1000382|SCTID:444604002|ONCOTREE:MDLC|ICD9:174.8|NCIT:C5160|UMLS:C0334384		mixed lobular and ductal carcinoma of breast|mixed lobular and ductal carcinoma of the breast|mixed lobular and ductal breast carcinoma|mixed ductal and lobular carcinoma of breast|mixed ductal and lobular carcinoma of the breast|mixed lobular and ductal carcinoma|breast mixed ductal and lobular carcinoma|mixed ductal and lobular breast carcinoma|ductal and lobular carcinoma	http://purl.obolibrary.org/obo/MONDO_0006306	A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor.	NCIT:C5160|UMLS:C0334384|SNOMEDCT:444604002
MONDO:0008967	congenital bile acid synthesis defect 4	biolink:Disease	mondo	MESH:C535444|DOID:0111068|Orphanet:79095|GARD:0010046|ICD10:K76.8|OMIM:214950	ordo_disease|gard_rare	Trihydroxycoprostanic acid in bile|trihydroxycoprostanic acid in bile|Trihydroxycoprostanic acid to cholic acid|Alpha-methyl-acyl-CoA racemase deficiency|bile acid synthesis defect, congenital, 4|bile acid synthesis defect, congenital, type 4|BASD4|2-methylacyl-CoA racemase deficiency|CBAS4|intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid|liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome|cholestasis, intrahepatic, with defective conversion of Trihydroxycoprostanic acid to cholic acid|congenital bile acid synthesis defect type 4|AMACR deficiency|cholestasis, intrahepatic, with defective conversion of|bile acid synthesis defect, congenital, 4; CBAS4	http://purl.obolibrary.org/obo/MONDO_0008967	Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.	UMLS:C1858328|DOID:0111068|ORPHA:79095|MESH:C535444|http://identifiers.org/omim/214950
MONDO:0006303	middle ear squamous cell carcinoma	biolink:Disease	mondo	EFO:1000378|DOID:5526|NCIT:C6086|UMLS:C1334762		squamous cell carcinoma of the middle Ear|middle ear squamous cell carcinoma|middle Ear epidermoid carcinoma|epidermoid carcinoma of the middle ear|epidermoid carcinoma of middle Ear|epidermoid carcinoma of the middle Ear|squamous cell carcinoma of middle ear|squamous cell carcinoma of middle Ear	http://purl.obolibrary.org/obo/MONDO_0006303	A rare squamous cell carcinoma that arises from the middle ear.	UMLS:C1334762|DOID:5526|NCIT:C6086
MONDO:0008966	Aagenaes syndrome	biolink:Disease	mondo	NCIT:C35709|GARD:0000370|DOID:6691|MESH:C535330|OMIM:214900|SCTID:28724005|Orphanet:1414|UMLS:C0268314|ICD9:576.8|ICD10:Q82.0	gard_rare|ordo_disease	cholestasis-edema syndrome, Norwegian type|LCS1|cholestasis-lymphedema syndrome|Aagenaes syndrome|LCS|lymphedema cholestasis syndrome|cholestasis lymphedema syndrome|lymphedema-cholestasis syndrome|Chls	http://purl.obolibrary.org/obo/MONDO_0008966	Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life.	UMLS:C0268314|DOID:6691|NCIT:C35709|ORPHA:1414|SNOMEDCT:28724005|MESH:C535330|http://identifiers.org/omim/214900
HGNC:1348	SAMD9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1348		
MONDO:0008965	CHARGE syndrome	biolink:Disease	mondo	ICD9:759.89|OMIM:214800|UMLS:C0265354|Orphanet:138|DOID:0050834|GARD:0000029|ICD10:Q89.8|MESH:D058747|MedDRA:10064063|SCTID:47535005|ICD10:Q87.8|NCIT:C75100	gard_rare|ordo_malformation_syndrome	coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome|CHARGE association|Charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and Ear anomalies|CHARGE syndrome|coloboma, heart malformation, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear malformations (CHARGE) association|coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies|Hall-Hittner syndrome|coloboma, heart defects, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear anomalies association	http://purl.obolibrary.org/obo/MONDO_0008965	CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).	MESH:D058747|MEDDRA:10064063|SNOMEDCT:47535005|NCIT:C75100|UMLS:C0265354|ORPHA:138|DOID:0050834|http://identifiers.org/omim/214800
MONDO:0006304	minor salivary gland adenocarcinoma	biolink:Disease	mondo	NCIT:C5948|UMLS:C1334768|EFO:1000379		adenocarcinoma of minor salivary gland|adenocarcinoma of the minor salivary gland	http://purl.obolibrary.org/obo/MONDO_0006304	An adenocarcinoma that arises from the minor salivary glands.	NCIT:C5948|UMLS:C1334768
HGNC:1349	SAMD9L	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1349		
MONDO:0008964	congenital secretory chloride diarrhea 1	biolink:Disease	mondo	GARD:0010001|ICD10:P78.3|SCTID:24412005|OMIM:214700|ICD9:579.8|Orphanet:53689|DOID:0060296|MESH:C536210	ordo_disease	secretory diarrhea caused by mutation in SLC26A3|congenital chloridorrhea|DIAR1|chloride diarrhea, congenital, Finnish type|Chloridorrhea, congenital|Darrow-gamble disease|congenital chloride diarrhea Finnish type|congenital chloride diarrhea|CLD|familial chloride diarrhea|SLC26A3 secretory diarrhea|diarrhea 1, secretory chloride, congenital|congenital secretory chloride diarrhea type 1|diarrhea 1, secretory chloride, congenital; DIAR1	http://purl.obolibrary.org/obo/MONDO_0008964	Any secretory diarrhea in which the cause of the disease is a mutation in the SLC26A3 gene.	SNOMEDCT:24412005|ORPHA:53689|UMLS:C0267662|MESH:C536210|http://identifiers.org/omim/214700|DOID:0060296
MONDO:0006301	metanephric adenoma	biolink:Disease	mondo	ICDO:8191/0|ICDO:8325/0|NCIT:C27253|DOID:6404|UMLS:C1266045|EFO:1000373		metanephric adenoma (morphologic abnormality)|metanephric adenoma	http://purl.obolibrary.org/obo/MONDO_0006301	A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients.	UMLS:C1266045|DOID:6404|NCIT:C27253
MONDO:0008963	Chediak-Higashi syndrome	biolink:Disease	mondo	ICD10:E70.3|GARD:0006035|DOID:2935|ICD10:E70.330|UMLS:C0007965|SCTID:111396008|ICD10:D72.0|NCIT:C2941|MedDRA:10008415|OMIM:214500|MESH:D002609|Orphanet:167	gard_rare|ordo_disease	Chédiak-Higashi-Steinbrink syndrome|Chediak Higashi syndrome|Chediak-Higashi syndrome; CHS|ChC)diak-Higashi disease|Chédiak-Higashi syndrome|ChC)diak-Higashi-Steinbrink syndrome|CHS|Chédiak-Higashi disease|Chediak-Higashi syndrome|Chediak - Steinbrinck anomaly	http://purl.obolibrary.org/obo/MONDO_0008963	ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described.	DOID:2935|MEDDRA:10008415|SNOMEDCT:111396008|MESH:D002609|NCIT:C2941|ORPHA:167|http://identifiers.org/omim/214500|UMLS:C0007965
MONDO:0006302	micropapillary serous carcinoma	biolink:Disease	mondo	NCIT:C6882|EFO:1000377			http://purl.obolibrary.org/obo/MONDO_0006302	An adenocarcinoma characterized by the presence of complex micropapillary structures covered by round and cuboidal cells with a high nuclear to cytoplasmic ratio.	NCIT:C6882
MONDO:0008962	Griscelli syndrome type 1	biolink:Disease	mondo	UMLS:C1859194|ICD10:E70.3|OMIM:214450|MESH:C537301|Orphanet:79476|DOID:0060832|GARD:0002566	gard_rare|ordo_clinical_subtype	Griscelli-PruniC)ras syndrome type 1|Griscelli syndrome, type 1|hypopigmentation-neurologic impairment syndrome|pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts|Griscelli-Pruniéras syndrome type 1|Griscelli syndrome, cutaneous and neurological type|Griscelli syndrome with neurological impairment|partial albinism and primary neurologic disease without hemophagocytic syndrome|Griscelli syndrome, cutaneous and neurologic type|GS1|Griscelli syndrome, type 1; GS1|Griscelli disease type 1|Griscelli syndrome with neurologic impairment	http://purl.obolibrary.org/obo/MONDO_0008962	A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2.	DOID:0060832|UMLS:C1859194|MESH:C537301|http://identifiers.org/omim/214450|ORPHA:79476
MONDO:0008961	Charcot-Marie-Tooth disease type 4A	biolink:Disease	mondo	MESH:C535419|ICD10:G60.0|DOID:0110185|SCTID:715796006|OMIM:214400|UMLS:C1859198|GARD:0001252|Orphanet:99948	gard_rare|ordo_disease	autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive|Charcot-Marie-Tooth neuropathy, type 4A|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4A|Charcot-Marie-Tooth disease type 4 caused by mutation in GDAP1|Charcot Marie Tooth disease type 4A|Charcot-Marie-Tooth disease, type 4A; CMT4A|GDAP1 Charcot-Marie-Tooth disease type 4|CMT4A|Charcot-Marie-Tooth neuropathy type 4A|Charcot-Marie-Tooth disease, type 4A	http://purl.obolibrary.org/obo/MONDO_0008961	Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities.	UMLS:C1859198|ORPHA:99948|SNOMEDCT:715796006|http://identifiers.org/omim/214400|DOID:0110185|MESH:C535419
MONDO:0006300	medullomyoblastoma with myogenic differentiation	biolink:Disease	mondo	NCIT:C3706|EFO:1000368|UMLS:C0205833|DOID:3861|ICDO:9472/3|ONCOTREE:MMB		MMB|medullomyoblastoma|medullomyoblastoma with myogenic differentiation	http://purl.obolibrary.org/obo/MONDO_0006300	A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma.	NCIT:C3706|DOID:3861|UMLS:C0205833
MONDO:0008960	Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome	biolink:Disease	mondo	Orphanet:90103|ICD10:G60.0|OMIM:214370|SCTID:715666007	ordo_malformation_syndrome	neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers|hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers|neuropathy, hereditary motor and sensory, with deafness, intellectual disability, and absent sensory large myelinated fibers|Charcot-Marie-Tooth disease and deafness|deafness with Charcot-Marie-Tooth disease	http://purl.obolibrary.org/obo/MONDO_0008960	Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome is a rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease.	SNOMEDCT:715666007|ORPHA:90103|http://identifiers.org/omim/214370
MONDO:0021918	arena syndrome	biolink:Disease	mondo	GARD:0009223|UMLS:C2931491|MESH:C537428	gard_rare	spastic paraplegia with iron deposits in basal ganglia	http://purl.obolibrary.org/obo/MONDO_0021918		UMLS:C2931491|MESH:C537428
NCBITaxon:9963	Caprinae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_9963		
HP:0005656	Positional foot deformity	biolink:PhenotypicFeature	mondo	UMLS:C4025161			http://purl.obolibrary.org/obo/HP_0005656	A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies.	
ECTO:0001055	exposure to decreased amount of temperature of air	biolink:OntologyClass	mondo			exposure to decreased amount in temperature of air	http://purl.obolibrary.org/obo/ECTO_0001055	A exposure event involving the interaction of an exposure receptor to decreased amount of temperature of air.	
MONDO:0021910	obsolete aplasia cutis myopia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021910		
HGNC:1358	C9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1358		
ECTO:0001057	exposure to decreased temperature	biolink:OntologyClass	mondo			decreased temperature exposure	http://purl.obolibrary.org/obo/ECTO_0001057	A exposure event involving the interaction of an exposure receptor to decreased temperature.	
HGNC:1356	ERLIN2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1356		
MONDO:0021913	aquagenic pruritus	biolink:Disease	mondo	SCTID:238695001|GARD:0010278|ICD9:698.8|UMLS:C0406409	gard_rare	water-induced itching|aquagenic pruritus	http://purl.obolibrary.org/obo/MONDO_0021913	Aquagenic pruritus is a conditionin which contact with water of any temperature causes intense itching, without any visible skin changes. The symptoms may begin immediately after contact and can last for an hour or more. The cause of aquagenic pruritus is unknown; however, familial cases have been described. It may be a symptom of polycythemia vera or another underlying condition. Overall, treatment is a challenge. Antihistamines, UVB phototherapy, PUVA therapy and various medications have been tried with varying degrees of success.	SNOMEDCT:238695001|UMLS:C0406409
HGNC:1353	C8B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1353		
MONDO:0021915	arakawa syndrome 2	biolink:Disease	mondo	NCIT:C99081|UMLS:C0268611|MESH:C537426|SCTID:89579000		N5-methylhomocysteine transferase deficiency|tetrahydrofolate-methyltransferase deficiency syndrome|methionine synthase deficiency|methylcobalamin deficiency, cblG type|Arakawa's syndrome 2|tetrahydrofolate methyltransferase deficiency|Arakawa syndrome II|Arakawa's syndrome II|homocystinuria-megaloblastic Anemia, cblG complementation type	http://purl.obolibrary.org/obo/MONDO_0021915	A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly.	UMLS:C0268611|SNOMEDCT:89579000|MESH:C537426|NCIT:C99081
HGNC:1352	C8A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1352		
MONDO:0008939	isolated cerebellar hypoplasia/agenesis	biolink:Disease	mondo	NCIT:C98890|ICD10:Q04.3|SCTID:16026008|Orphanet:1398|OMIM:213000|GARD:0001194|MedDRA:10008033|MESH:C562568|DOID:0070338	ordo_morphological_anomaly	isolated cerebellar agenesis|near total absence of cerebellum|Chiari 4 malformation|Chiari IV malformation|congenital cerebellar Hypoplasia|subtotal absence of cerebellum|cerebellar hypoplasia	http://purl.obolibrary.org/obo/MONDO_0008939	Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures.	UMLS:C0344488|ORPHA:1398|http://identifiers.org/omim/213000|NCIT:C98890|MESH:C562568|MEDDRA:10008033|SNOMEDCT:16026008|DOID:0070338|UMLS:C0266470
MONDO:0033939	hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome	biolink:Disease	mondo	Orphanet:528105	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0033939		ORPHA:528105
MONDO:0008938	early-onset cerebellar ataxia with retained tendon reflexes	biolink:Disease	mondo	ICD10:G11.1|UMLS:C0393520|GARD:0002600|SCTID:230228004|ICD9:334.3|OMIM:212895|MESH:C535633|Orphanet:1177	ordo_disease	cerebellar ataxia, early-onset, with retained tendon reflexes|ataxia, harding type|EOCA|cerebellar ataxia early onset with retained tendon reflex|Harding ataxia|EOCARR|cerebellar ataxia, early-onset, with retained tendon reflexes; EOCA	http://purl.obolibrary.org/obo/MONDO_0008938	Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss.	SNOMEDCT:230228004|MESH:C535633|http://identifiers.org/omim/212895|UMLS:C0393520|ORPHA:1177
MONDO:0008937	cerebellar ataxia, benign, with thermoanalgesia	biolink:Disease	mondo	OMIM:212890|MESH:C565868|UMLS:C1859303		cerebellar ataxia, benign, with thermoanalgesia|cerebellar ataxia with loss of pain and temperature sensation	http://purl.obolibrary.org/obo/MONDO_0008937		MESH:C565868|http://identifiers.org/omim/212890|UMLS:C1859303
MONDO:0008936	cerebellar ataxia and neurosensory deafness	biolink:Disease	mondo	MESH:C565869|OMIM:212850|UMLS:C1859304		cerebellar ataxia and neurosensory deafness	http://purl.obolibrary.org/obo/MONDO_0008936		MESH:C565869|http://identifiers.org/omim/212850|UMLS:C1859304
MONDO:0008935	cerebellar ataxia-hypogonadism syndrome	biolink:Disease	mondo	Orphanet:1173|MESH:C565870|GARD:0003314|ICD10:G11.8|DOID:0111587|OMIM:212840|UMLS:C1859305	ordo_disease	luteinizing hormone releasing hormone, deficiency of with ataxia|cerebellar ataxia and hypogonadotropic hypogonadism|cerebellar ataxia - hypogonadism|Gordon-Holmes syndrome|LHRH deficiency and ataxia|luteinizing hormone-releasing hormone deficiency with ataxia|Gordon Holmes syndrome; GDHS|Gordon Holmes syndrome|GDHS|luteinizing hormone-releasing hormone, deficiency of, with ataxia	http://purl.obolibrary.org/obo/MONDO_0008935	Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome.	DOID:0111587|MESH:C565870|http://identifiers.org/omim/212840|UMLS:C1859305|ORPHA:1173
MONDO:0008934	cerebellar ataxia-ectodermal dysplasia syndrome	biolink:Disease	mondo	OMIM:212835|UMLS:C1859306|MESH:C535350|Orphanet:1174|GARD:0001189|SCTID:715371006|ICD10:G11.1	ordo_malformation_syndrome	ectodermal dysplasia and cerebellar ataxia|cerebellar ataxia - ectodermal dysplasia|cerebellar ataxia ectodermal dysplasia|cerebellar ataxia and ectodermal dysplasia	http://purl.obolibrary.org/obo/MONDO_0008934	Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.	MESH:C535350|http://identifiers.org/omim/212835|SNOMEDCT:715371006|UMLS:C1859306|ORPHA:1174
MONDO:0008933	cephalin lipidosis	biolink:Disease	mondo	MESH:C565872|OMIM:212800|UMLS:C1859307		cephalin lipidosis	http://purl.obolibrary.org/obo/MONDO_0008933		MESH:C565872|http://identifiers.org/omim/212800|UMLS:C1859307
MONDO:0008932	PCD	biolink:Disease	mondo	OMIM:212790|UMLS:C1859308		premature centromere division; PCD|premature centromere division|PCD|X-chromosome centromere peculiarity	http://purl.obolibrary.org/obo/MONDO_0008932		http://identifiers.org/omim/212790|UMLS:C1859308
MONDO:0008931	Cenani-Lenz syndactyly syndrome	biolink:Disease	mondo	GARD:0005084|UMLS:C1859309|OMIM:212780|Orphanet:3258|SCTID:720633009|DOID:0090015|MESH:C538150|ICD10:Q78.4	ordo_malformation_syndrome	syndactyly, type 7|Cenani syndactyly|Cenani-Lenz type syndactyly|Cenani-Lenz syndactyly syndrome|Cenani-Lenz syndactyly syndrome; CLSS|syndactyly Cenani Lenz type|Cenani-Lenz syndactyly|Cenani-Lenz syndrome|Cenani syndactylism|syndactyly type 7|CLSS	http://purl.obolibrary.org/obo/MONDO_0008931	Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.	DOID:0090015|SNOMEDCT:720633009|http://identifiers.org/omim/212780|UMLS:C1859309|ORPHA:3258|MESH:C538150
MONDO:0008930	celiac disease, susceptibility to, 1	biolink:Disease	mondo	OMIM:212750	predisposition	celiac sprue, susceptibility to, 1|celiac disease, susceptibility to, type 1|gluten-sensitive enteropathy, susceptibility to, 1|CELIAC1|susceptibility to celiac disease 1|celiac disease, susceptibility to, 1|celiac disease, susceptibility to, 1; CELIAC1	http://purl.obolibrary.org/obo/MONDO_0008930		http://identifiers.org/omim/212750
NCBITaxon:9922	Capra	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_9922		
NCBITaxon:9925	Capra hircus	organism taxon	mondo	GC_ID:1		domestic goat|goat|goats|Capra hircus Linnaeus, 1758|Capra aegagrus hircus	http://purl.obolibrary.org/obo/NCBITaxon_9925		
MONDO:0021907	aplasia cutis autosomal recessive	biolink:Disease	mondo	GARD:0000749	gard_rare		http://purl.obolibrary.org/obo/MONDO_0021907	Aplasia cutis with autosomal recessive inheritance.	
MONDO:0021908	aplasia cutis congenita dominant	biolink:Disease	mondo	GARD:0000751	gard_rare		http://purl.obolibrary.org/obo/MONDO_0021908	Aplasia cutis congenita with with autosomal dominant inheritance with reduced penetrance.	
MONDO:0021909	obsolete aplasia cutis congenita recessive	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021909		
HGNC:1366	ADAMTS13	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1366		
CHEBI:22723	benzoic acids	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_22723	Any aromatic carboxylic acid that consists of benzene in which at least a single hydrogen has been substituted by a carboxy group.	
MONDO:0021902	aortopulmonary window	biolink:Disease	mondo	SCTID:17024001|MESH:D001028|GARD:0000745|HP:0011604|NCIT:C101050	gard_rare	aortopulmonary septal defect|APW|aortic-pulmonary window|AP window|aorto-pulmonary window|aortopulmonary window|APSD	http://purl.obolibrary.org/obo/MONDO_0021902	A rare, congenital anomaly in the aorta in which a communication exists between the ascending aorta and the pulmonary artery.	MESH:D001028|SNOMEDCT:17024001|NCIT:C101050
HGNC:1362	FRRS1L	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1362		
MONDO:0008929	cataract-intellectual disability-hypogonadism syndrome	biolink:Disease	mondo	Orphanet:1387|GARD:0003406|SCTID:722380003|MESH:C536028|ICD10:Q87.8|OMIM:212720|DOID:0111586|UMLS:C0796037	ordo_malformation_syndrome	Martsolf syndrome|cataract-intellectual disability-hypogonadism|cataract-mental retardation-hypogonadism|MARTSOLF syndrome	http://purl.obolibrary.org/obo/MONDO_0008929	This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.	MESH:C536028|ORPHA:1387|SNOMEDCT:722380003|DOID:0111586|http://identifiers.org/omim/212720|UMLS:C0796037
MONDO:0021905	apert-like polydactyly syndrome	biolink:Disease	mondo	GARD:0000746	gard_rare	apert like polydactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0021905		
MONDO:0008949	cerebral malformation, seizures, hypertrichosis, and overlapping fingers	biolink:Disease	mondo	UMLS:C1859259|OMIM:213820|MESH:C537370|GARD:0003812		cerebral malformation, seizures, hypertrichosis, and overlapping fingers|Muller Barth Menger syndrome	http://purl.obolibrary.org/obo/MONDO_0008949		http://identifiers.org/omim/213820|UMLS:C1859259|MESH:C537370
MONDO:0008948	cerebrotendinous xanthomatosis	biolink:Disease	mondo	Orphanet:909|GARD:0005622|MESH:D019294|OMIM:213700|NCIT:C84628|UMLS:C0238052|SCTID:63246000|DOID:4810|ICD10:E75.5	ordo_disease|gard_rare	CTx|sterol 27-hydroxylase deficiency|cerebral cholesterinosis|cerebrotendinous xanthomatosis; CTx|cerebrotendinous xanthomatosis|cholestanol storage disease	http://purl.obolibrary.org/obo/MONDO_0008948	Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.	SNOMEDCT:63246000|ORPHA:909|DOID:4810|MESH:D019294|http://identifiers.org/omim/213700|NCIT:C84628|UMLS:C0238052
MONDO:0033948	acquired angioedema with C1Inh deficiency	biolink:Disease	mondo	Orphanet:528663	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0033948		ORPHA:528663
MONDO:0008947	bilateral striopallidodentate calcinosis	biolink:Disease	mondo	SCTID:230311004|ICD9:348.89|DOID:0060230|OMIMPS:213600|UMLS:C0393589|HP:0002135|ICD10:G23.8|SCTID:110997000|MedDRA:10059626|MESH:C536275|ICD9:333.0|Orphanet:1980|UMLS:CN852731	ordo_disease	BSPDC|primary familial brain calcification|basal ganglia calcification|idiopathic basal ganglia calcification|basal ganglia degeneration with calcification|Fahr disease|cerebrovascular ferrocalcinosis|PFBC|basal ganglia calcification, idiopathic	http://purl.obolibrary.org/obo/MONDO_0008947	Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.	ORPHA:1980|MEDDRA:10059626|DOID:0060230|UMLS:C0393589|UMLS:CN852731|SNOMEDCT:110997000|SNOMEDCT:230311004|MESH:C536275
MONDO:0033947	hereditary angioedema with normal C1Inh	biolink:Disease	mondo	Orphanet:528647	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0033947		ORPHA:528647
MONDO:0033946	hereditary angioedema with C1Inh deficiency	biolink:Disease	mondo	OMIM:106100|Orphanet:528623	ordo_disease	angioedema, hereditary, type I; HAE1|angioedema, hereditary, type 2|angioedema, hereditary, type 1|angioedema, hereditary, type 1/2|HAE1|C1 esterase inhibitor, deficiency of|angioneurotic edema, hereditary|angioedema, hereditary, type I	http://purl.obolibrary.org/obo/MONDO_0033946	Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein.	ORPHA:528623|http://identifiers.org/omim/106100
MONDO:0008946	cerebral angiopathy, dysphoric	biolink:Disease	mondo	UMLS:C1859283|OMIM:213500|MESH:C565864		cerebral angiopathy, dysphoric	http://purl.obolibrary.org/obo/MONDO_0008946		MESH:C565864|http://identifiers.org/omim/213500|UMLS:C1859283
MONDO:0008945	myoclonic cerebellar dyssynergia	biolink:Disease	mondo	SCTID:73495003|EFO:1001053|OMIM:213400|MESH:D002527|UMLS:C0007761|DOID:12707|ICD10:G11.1		cerebelloparenchymal disorder V|CPD5|cerebelloparenchymal disorder V; CPD5|Spinodentate atrophy|dyssynergia cerebellaris myoclonica|Ramsay Hunt syndrome type 1|progressive cerebellar tremor|cerebelloparenchymal disorder type 5|cerebelloparenchymal disorder 5|Ramsay Hunt cerebellar syndrome|dyssynergia cerebellaris myoclonica of Hunt	http://purl.obolibrary.org/obo/MONDO_0008945	A condition marked by progressive cerebellar ataxia combined with myoclonus usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal seizures, spasticity, and dyskinesias. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the cerebellum are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)	http://identifiers.org/omim/213400|UMLS:C0007761|DOID:12707|MESH:D002527|SNOMEDCT:73495003
MONDO:0008944	Joubert syndrome 1	biolink:Disease	mondo	OMIM:213300|DOID:0110980|UMLS:CN119531		Joubert-Boltshauser syndrome|Joubert syndrome type 1|JBTS1|CORS1|cerebelloparenchymal disorder 4|CPD4|INPP5E Joubert syndrome|Joubert syndrome 1|Joubert syndrome|Joubert syndrome caused by mutation in INPP5E|cerebelloparenchymal disorder IV|Cerebellooculorenal syndrome 1|Joubert syndrome 1; JBTS1|cerebellooculorenal syndrome 1	http://purl.obolibrary.org/obo/MONDO_0008944	Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene.	http://identifiers.org/omim/213300|DOID:0110980|UMLS:CN119531
MONDO:0008943	autosomal recessive spinocerebellar ataxia 2	biolink:Disease	mondo	SCTID:715369006|DOID:0080061|GARD:0001199|ICD10:G11.0|MESH:C565865|OMIM:213200|UMLS:C1859298|Orphanet:1170	ordo_disease	cerebellar granular cell hypoplasia and intellectual disability, congenital|CPDIII|autosomal recessive spinocerebellar ataxia type 2|PMPCA autosomal recessive congenital cerebellar ataxia|cerebellar hypoplasia, nonprogressive Norman type|SCAR2|autosomal recessive congenital cerebellar ataxia caused by mutation in PMPCA|autosomal recessive cerebelloparenchymal disorder type 3|cerebelloparenchymal disorder 3|CPD3|spinocerebellar ataxia, autosomal recessive 2|CPD 3|spinocerebellar ataxia, autosomal recessive 2; SCAR2|cerebellar granular cell hypoplasia and mental retardation, congenital	http://purl.obolibrary.org/obo/MONDO_0008943	The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.	SNOMEDCT:715369006|MESH:C565865|UMLS:C1859298|DOID:0080061|ORPHA:1170|http://identifiers.org/omim/213200
MONDO:0008942	CPD2	biolink:Disease	mondo	MESH:C565866|UMLS:C1859299|OMIM:213100		cerebelloparenchymal disorder II|CPD, late-onset recessive type|CPD2|cerebelloparenchymal disorder II; CPD2	http://purl.obolibrary.org/obo/MONDO_0008942		UMLS:C1859299|http://identifiers.org/omim/213100|MESH:C565866
MONDO:0008941	hepatic fibrosis-renal cysts-intellectual disability syndrome	biolink:Disease	mondo	GARD:0005177|Orphanet:2031|MESH:C565867|OMIM:213010	ordo_malformation_syndrome	Thompson-Baraitser syndrome|Thompson Baraitser syndrome|cerebellar vermis aplasia with associated features suggesting SMITH-Lemli-Opitz syndrome and Meckel syndrome	http://purl.obolibrary.org/obo/MONDO_0008941	Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987.	ORPHA:2031|http://identifiers.org/omim/213010|MESH:C565867
MONDO:0008940	endosteal sclerosis-cerebellar hypoplasia syndrome	biolink:Disease	mondo	GARD:0001195|OMIM:213002|Orphanet:85186|ICD10:Q87.8|UMLS:C1859301|MESH:C535353	ordo_malformation_syndrome	cerebellar hypoplasia with endosteal sclerosis	http://purl.obolibrary.org/obo/MONDO_0008940	Endosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy, and dysarthria. It is appears to be transmitted as an autosomal recessive trait.	UMLS:C1859301|ORPHA:85186|http://identifiers.org/omim/213002|MESH:C535353
UBERON:0005563	trigeminal neural crest	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005563	Cranial neural crest which gives rise to the trigeminal ganglion.	
HGNC:1371	CA12	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1371		
UBERON:0005562	thymus primordium	biolink:AnatomicalEntity	mondo			thymic primordium|thymic rudiment	http://purl.obolibrary.org/obo/UBERON_0005562	A small outgrowth of the pharyngeal epithelium that is the site of lymphocyte cell production[ZFA]. [PMID].	
HGNC:1377	CA5A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1377		
FOODON:00002239	shrimp food product	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00002239		
UBERON:0005568	rhombomere 1 roof plate	biolink:AnatomicalEntity	mondo			roof plate rhombomere 1	http://purl.obolibrary.org/obo/UBERON_0005568	A rhombomere roof plate that is part of a rhombomere 1.	
UBERON:0005567	rhombomere 1 lateral wall	biolink:AnatomicalEntity	mondo			lateral wall rhombomere 1	http://purl.obolibrary.org/obo/UBERON_0005567	A rhombomere lateral wall that is part of a rhombomere 1.	
HGNC:1375	CA4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1375		
UBERON:0005565	facio-acoustic neural crest	biolink:AnatomicalEntity	mondo			facio acoustic neural crest	http://purl.obolibrary.org/obo/UBERON_0005565	Cranial neural crest that gives rise to the facio-acoustic ganglion.	
HGNC:1373	CA2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1373		
UBERON:0005564	gonad primordium	biolink:AnatomicalEntity	mondo			undifferentiated gonad|gonadal primordium|immature gonad|primitive gonad|future gonad	http://purl.obolibrary.org/obo/UBERON_0005564	Portion of tissue that gives rise to the immature gonad.	
MONDO:0006338	obsolete ovarian germ cell tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006338		
MONDO:0021971	obsolete Baraitser Rodeck garner syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021971		
MONDO:0006339	ovarian microcystic stromal tumor	biolink:Disease	mondo	UMLS:C4054287|NCIT:C121953|EFO:1000424			http://purl.obolibrary.org/obo/MONDO_0006339	A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma.	NCIT:C121953|UMLS:C4054287
MONDO:0008999	Cohen syndrome	biolink:Disease	mondo	MESH:C536438|SCTID:56604005|DOID:0111590|Orphanet:193|OMIM:216550|MedDRA:10049066|GARD:0006126|ICD9:759.89|ICD10:Q87.8|UMLS:C1854061	clingen|gard_rare|ordo_malformation_syndrome	Cohen syndrome; COH1|Chs1, formerly|Chs1|cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness|pepper syndrome|hypotonia, obesity, and prominent incisors|Coh|Cohen syndrome|COH1	http://purl.obolibrary.org/obo/MONDO_0008999	Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.	SNOMEDCT:56604005|MEDDRA:10049066|http://identifiers.org/omim/216550|ORPHA:193|UMLS:C0265223|MESH:C536438|UMLS:C1854061|DOID:0111590
MONDO:0006336	ovarian endometrioid adenocarcinoma with squamous differentiation	biolink:Disease	mondo	NCIT:C40061|EFO:1000417		ovarian adenosquamous carcinoma|ovarian endometrioid adenocarcinoma with squamous differentiation|ovarian adenoacanthoma	http://purl.obolibrary.org/obo/MONDO_0006336	An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance.	NCIT:C40061
MONDO:0008998	Cockayne syndrome type 3	biolink:Disease	mondo	GARD:0001417|Orphanet:90324|ICD10:Q87.8	ordo_clinical_subtype	Cockayne syndrome type 3|Cockayne syndrome type C|Cockayne syndrome, type III|Cockayne syndrome type III	http://purl.obolibrary.org/obo/MONDO_0008998	Cockayne syndrome type III, also known as the mild form of Cockayne syndrome, is a rare genetic disorder that causes early (premature) aging. Unlike the more severe forms of this condition, individuals with Cockayne syndrome type III can have normal growth and development. Symptoms may include sunlight sensitivity (photosensitivity), hearing loss, eye and bone abnormalities, and changes to the brain that can be seen on imaging (brain MRIs). In general, symptoms of Cockayne syndrome type III are usually not noticeable until later in childhood.	ORPHA:90324|UMLS:C0751037
MONDO:0006337	ovarian endometriosis	biolink:Disease	mondo	ICD10:N80.1|NCIT:C27628|SCTID:266589005|COHD:199881|UMLS:C0156344|ICD9:617.1|EFO:1000418|DOID:11432		ovary endometriosis (disease)|endometriosis (disease) of ovary|endometriosis of ovary|ovarian endometriosis	http://purl.obolibrary.org/obo/MONDO_0006337	A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions.	UMLS:C0156344|SNOMEDCT:266589005|NCIT:C27628|DOID:11432
MONDO:0008997	obsolete Cockayne syndrome A	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0008997		
MONDO:0006334	obsolete ovarian embryonal carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006334		
MONDO:0008996	Joubert syndrome with hepatic defect	biolink:Disease	mondo	Orphanet:1454|OMIM:216360|ICD10:Q04.3|SCTID:721847002|DOID:0111589|GARD:0001410|UMLS:C1857662|MESH:C536430	ordo_disease	cerebellar vermis hypo/aplasia, oligophrenia, ataxia congenital, coloboma, and hepatic fibrosis|JS-H|gentile syndrome|Joubert syndrome with congenital hepatic fibrosis|coach syndrome|cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis|cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis	http://purl.obolibrary.org/obo/MONDO_0008996	Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).	SNOMEDCT:721847002|http://identifiers.org/omim/216360|ORPHA:1454|UMLS:C1857662|MESH:C536430|DOID:0111589
MONDO:0006335	ovarian endometrioid adenocarcinoma	biolink:Disease	mondo	ONCOTREE:EOV|ICD10:C56|Orphanet:454723|UMLS:C0346163|NCIT:C7979|SCTID:254852002|EFO:1000416|DOID:5828	ordo_disease	ovarian endometrioid adenocarcinoma|endometrioid carcinoma of the ovary|endometrium adenocarcinoma of ovary|endometrioid ovary carcinoma|endometrioid carcinoma ovary|ovarian endometrioid adenocarcinoma not otherwise specified|endometrioid adenocarcinoma of the ovary|endometrioid adenocarcinoma of ovary|endometrioid carcinoma of ovary|endometrioid cancer of the ovary|endometrioid ovarian cancer|ovarian endometrioid adenocarcinoma NOS|ovarian endometrioid cancer|ovary endometrium adenocarcinoma|endometrioid cancer of ovary|ovarian endometrioid carcinoma	http://purl.obolibrary.org/obo/MONDO_0006335	An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma.	SNOMEDCT:254852002|ORPHA:454723|DOID:5828|NCIT:C7979|UMLS:C0346163
MONDO:0008995	Yunis-Varon syndrome	biolink:Disease	mondo	UMLS:C1857663|OMIM:216340|DOID:0060589|MESH:C536719|GARD:0000331|Orphanet:3472|ICD10:Q87.8	gard_rare|ordo_malformation_syndrome	cleidocranial dysplasia-micrognathia-absent thumbs syndrome|cleidocranial dysplasia, micrognathia, absent thumbs, & distal aphalangia|Yunis-Varon syndrome; YVS|cleidocranial dysplasia with micrognathia, absent thumbs, and distal Aphalangia|Yunis-Varón syndrome|cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia|Yunis Varon syndrome|Yunis-Varon syndrome|YVS	http://purl.obolibrary.org/obo/MONDO_0008995	Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.	http://identifiers.org/omim/216340|UMLS:C1857663|MESH:C536719|DOID:0060589|ORPHA:3472
NCBITaxon:9989	Rodentia	organism taxon	mondo	GC_ID:1		rodent|rodents	http://purl.obolibrary.org/obo/NCBITaxon_9989		
MONDO:0006332	obsolete ovarian choriocarcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006332		
MONDO:0008994	cleidocranial dysplasia, recessive form	biolink:Disease	mondo	GARD:0010623|MESH:C565843|OMIM:216330|UMLS:C1859080	gard_rare	cleidocranial dysplasia recessive form|autosomal recessive form of cleidocranial dysostosis|cleidocranial dysplasia, recessive form	http://purl.obolibrary.org/obo/MONDO_0008994		http://identifiers.org/omim/216330|MESH:C565843|UMLS:C1859080
MONDO:0006333	obsolete ovarian dysgerminoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006333		
MONDO:0008993	cleft palate-stapes fixation-oligodontia syndrome	biolink:Disease	mondo	UMLS:C1859081|ICD10:Q87.8|OMIM:216300|GARD:0001393|Orphanet:2010|MESH:C565844	ordo_malformation_syndrome|gard_rare	cleft palate, deafness, and oligodontia|cleft palate stapes fixation oligodontia	http://purl.obolibrary.org/obo/MONDO_0008993	Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971.	http://identifiers.org/omim/216300|MESH:C565844|UMLS:C1859081|ORPHA:2010
MONDO:0006330	ossifying fibromyxoid tumor	biolink:Disease	mondo	ICDO:8842/0|DOID:2685|NCIT:C6582|SCTID:404076001|EFO:1000408|ONCOTREE:OFMT|UMLS:C1266128		OFMT|ossifying fibromyxoid tumor (morphologic abnormality)|ossifying fibromyxoid neoplasm|ossifying fibromyxoma	http://purl.obolibrary.org/obo/MONDO_0006330	A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. The lesions are associated with the formation of metaplastic bone. Most patients present with painless subcutaneous masses. Recurrences have been reported in a minority of patients.	UMLS:C1266128|DOID:2685|NCIT:C6582|SNOMEDCT:404076001
MONDO:0008992	Juberg-Hayward syndrome	biolink:Disease	mondo	GARD:0003060|UMLS:C0796099|OMIM:216100|SCTID:721874001|ICD10:Q87.0|MESH:C537690|Orphanet:2319	gard_rare|ordo_malformation_syndrome	JHS|cleft LIP/palate with abnormal thumbs and microcephaly|Juberg-Hayward syndrome|cleft lip/palate-abnormal thumbs-microcephaly syndrome|Orocraniodigital syndrome	http://purl.obolibrary.org/obo/MONDO_0008992	Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit.	MESH:C537690|SNOMEDCT:721874001|UMLS:C0796099|http://identifiers.org/omim/216100|ORPHA:2319
MONDO:0006331	obsolete ovarian carcinosarcoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006331		
MONDO:0008991	Verloove Vanhorick-Brubakk syndrome	biolink:Disease	mondo	Orphanet:3429|MESH:C536541|UMLS:C1859082|ICD10:Q87.8|GARD:0005482|OMIM:215850|SCTID:764697003	gard_rare|ordo_malformation_syndrome	cleft-limb-heart malformation syndrome syndrome|Verloove Vanhorick Brubakk syndrome|cleft-limb-heart malformation syndrome|cleft lip-limb and heart malformations syndrome|Clh syndrome|cleft limb heart malformation syndrome	http://purl.obolibrary.org/obo/MONDO_0008991	Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981.	SNOMEDCT:764697003|MESH:C536541|http://identifiers.org/omim/215850|UMLS:C1859082|ORPHA:3429
MONDO:0008990	cleft larynx, posterior	biolink:Disease	mondo	GARD:0004015|OMIM:215800|Orphanet:2005	gard_rare	cleft larynx, posterior|Novak syndrome|laryngotracheoesophageal cleft pulmonary hypoplasia|stridor, congenital	http://purl.obolibrary.org/obo/MONDO_0008990		http://identifiers.org/omim/215800|ORPHA:2005
HGNC:1382	CA8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1382		
HP:0003027	Mesomelia	biolink:PhenotypicFeature	mondo	UMLS:C0549306		Mesomelic shortening of limbs|Mesomelic limb shortening|Symmetric mesomelic limb shortness|Disproportionately short middle portion of limb	http://purl.obolibrary.org/obo/HP_0003027	Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.	
FOODON:00002244	snail food product	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00002244		
MONDO:0018327	glomus tumor	biolink:Disease	mondo	ICDO:8711/0|Orphanet:391651|ICD9:239.7|SCTID:403969002|MESH:D005918|NCIT:C3060|DOID:2431|UMLS:C0017653|ICD10:D18.0	ordo_disease	glomus neoplasm|glomus tumor|glomus tumour	http://purl.obolibrary.org/obo/MONDO_0018327	A rare benign or malignant mesenchymal neoplasm arising from cells that resemble the modified smooth muscle cells of the glomus body. The majority of glomus tumors occur in the distal extremities.	ORPHA:391651|DOID:2431|SNOMEDCT:403969002|NCIT:C3060|MESH:D005918|UMLS:C0017653
MONDO:0018326	transient neonatal myasthenia gravis	biolink:Disease	mondo	Orphanet:391504|ICD10:P94.0|UMLS:C0495465|NCIT:C117308	ordo_clinical_subtype	NMG|transient neonatal acquired myasthenia|transient neonatal autoimmune myasthenia gravis|neonatal myasthenia gravis	http://purl.obolibrary.org/obo/MONDO_0018326	Transient neonatal myasthenia gravis (MG) is a rare form of MG occurring in neonates born to mothers who have the disorder or specific circulating autoantibodies.	UMLS:C0495465|NCIT:C117308|ORPHA:391504
MONDO:0018329	persistent combined dystonia	biolink:Disease	mondo	ICD10:G24.1|Orphanet:391711	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018329		ORPHA:391711
MONDO:0018328	homozygous familial hypercholesterolemia	biolink:Disease	mondo	Orphanet:391665|ICD10:E78.0|SCTID:238078005	ordo_disease	HoFH	http://purl.obolibrary.org/obo/MONDO_0018328		ORPHA:391665|SNOMEDCT:238078005
MONDO:0021964	bagatelle Cassidy syndrome	biolink:Disease	mondo	GARD:0000398|UMLS:C2931616|MESH:C537796	gard_rare	macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay|macrocephaly short limbs deafness	http://purl.obolibrary.org/obo/MONDO_0021964		MESH:C537796|UMLS:C2931616
MONDO:0018323	HSD10 disease, neonatal type	biolink:Disease	mondo	ICD10:E72.8|UMLS:CN204975|Orphanet:391457	ordo_clinical_subtype	HSD10 deficiency, neonatal type|2-methyl-3-hydroxybutyric aciduria, neonatal type|2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type|MHBD deficiency, neonatal type	http://purl.obolibrary.org/obo/MONDO_0018323	HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by onset of severe metabolic/lactic acidosis, neurological and psychomotor delay, seizures and severe progressive hypertrophic cardiomyopathy in the neonatal period. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life.	ORPHA:391457|UMLS:CN204975
MONDO:0018322	HSD10 disease, infantile type	biolink:Disease	mondo	UMLS:CN204974|ICD10:E72.8|Orphanet:391428	ordo_clinical_subtype	2-methyl-3-hydroxybutyric aciduria, infantile type|HSD10 deficiency, infantile type|2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type|HSD10 disease, classic type|2-methyl-3-hydroxybutyric aciduria, classic type|MHBD deficiency, infantile type|HSD10 deficiency, classic type|MHBD deficiency, classic type|2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type	http://purl.obolibrary.org/obo/MONDO_0018322	HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. It is characterized by normal early development until 6-18 months of life, followed by progressive neurodegeneration manifesting with developmental regression, progressive visual and hearing troubles, seizures, epilepsy, severe cardiomyopathy, lethargy, hypotonia, poor feeding, choreoathetosis, and movement disorders. Elevated blood levels of isoleucine metabolites and their excretion in urine are reported. The disease is usually fatal around 2-4 years of age.	ORPHA:391428|UMLS:CN204974
MONDO:0018325	juvenile myasthenia gravis	biolink:Disease	mondo	Orphanet:391497|ICD10:G70.0	ordo_clinical_subtype	myasthenia gravis of childhood|pediatric myasthenia gravis|pediatric myasthenia gravis|juvenile autoimmune myasthenia gravis|juvenile acquired myasthenia|childhood myasthenia gravis	http://purl.obolibrary.org/obo/MONDO_0018325	Juvenile myasthenia gravis (MG) is a rare form of MG, an autoimmune disorder of the neuromuscular junction resulting in ocular manifestations or generalized weakness, with onset before 18 years of age.	ORPHA:391497
MONDO:0021966	baker Vinters syndrome	biolink:Disease	mondo	MESH:C537899|GARD:0000808|UMLS:C2931659	n_of_one|gard_rare	hydrocephalus with cerebral aqueductal dysgenesis and craniofacial anomalies	http://purl.obolibrary.org/obo/MONDO_0021966	A very rare syndrome characterized by craniosynostosis (premature fusion of skull bones), hydrocephalus (an abnormal increase of cerebrospinal fluid in the ventricles of the brain) and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles.	MESH:C537899|UMLS:C2931659
HGNC:1388	CACNA1A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1388		
MONDO:0018324	adult-onset myasthenia gravis	biolink:Disease	mondo	ICD10:G70.0|Orphanet:391490	ordo_clinical_subtype	adult-onset acquired myasthenia|adult-onset autoimmune myasthenia gravis	http://purl.obolibrary.org/obo/MONDO_0018324	Acquired myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma.	ORPHA:391490
HGNC:1389	CACNA1B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1389		
HGNC:1386	CABP4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1386		
MONDO:0021969	Banti syndrome	biolink:Disease	mondo	MESH:C537903|GARD:0005888	gard_rare	idiopathic congestive splenomegaly|Banti's disease|idiopathic portal hypertension|Banti's syndrome	http://purl.obolibrary.org/obo/MONDO_0021969	A syndrome characterized by hypochromic anemia with leukopenia, splenomegaly, late onset hepatic cirrhosis and death from gastric hemorrhages.	MESH:C537903
MONDO:0018321	atypical juvenile parkinsonism	biolink:Disease	mondo	ICD10:G20|UMLS:CN204972|SCTID:725146001|UMLS:C4510873|Orphanet:391411	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018321	Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms.	ORPHA:391411|SNOMEDCT:725146001|UMLS:CN204972|UMLS:C4510873
MONDO:0018320	primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	biolink:Disease	mondo	Orphanet:391408|ICD10:Q87.8|UMLS:CN204971	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018320		ORPHA:391408|UMLS:CN204971
HGNC:1385	CABP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1385		
MONDO:0021960	ureteritis	biolink:Disease	mondo	NCIT:C78666|UMLS:C0041959|SCTID:111405003		Ureteritis|Inflammation of ureter|ureteritis	http://purl.obolibrary.org/obo/MONDO_0021960	An acute or chronic inflammatory process affecting the ureter.	UMLS:C0041959|SNOMEDCT:111405003|NCIT:C78666
MONDO:0006349	papillary cystic neoplasm	biolink:Disease	mondo	NCIT:C4179|UMLS:C0334357|EFO:1000448		papillary cystic neoplasm|papillary cystic tumor	http://purl.obolibrary.org/obo/MONDO_0006349	A benign, malignant, or borderline neoplasm characterized by the presence of papillary mucinous, serous, or clear cell structures and cystic structures.	NCIT:C4179|UMLS:C0334357
MONDO:0006347	pancreatic large cell neuroendocrine carcinoma	biolink:Disease	mondo	NCIT:C95582|EFO:1000442|UMLS:C2987239		pancreatic large cell NEC|large cell neuroendocrine carcinoma of pancreas|pancreas large cell neuroendocrine carcinoma|pancreatic large cell neuroendocrine carcinoma|pancreatic large cell NEC G3	http://purl.obolibrary.org/obo/MONDO_0006347	An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells.	NCIT:C95582|UMLS:C2987239
MONDO:0021962	baetz-greenwalt syndrome	biolink:Disease	mondo	MESH:C537795|GARD:0009216|UMLS:C2931615	gard_rare	hypoplastic right-sided heart complex	http://purl.obolibrary.org/obo/MONDO_0021962		UMLS:C2931615|MESH:C537795
MONDO:0006348	pancreatic small cell neuroendocrine carcinoma	biolink:Disease	mondo	EFO:1000444|UMLS:C2987240|NCIT:C95583		pancreatic small cell neuroendocrine carcinoma|pancreatic small cell NEC G3|small cell carcinoma of endocrine pancreas|endocrine pancreas small cell carcinoma|pancreatic small cell NEC	http://purl.obolibrary.org/obo/MONDO_0006348	An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells.	NCIT:C95583|UMLS:C2987240
MONDO:0006345	palmar fibromatosis	biolink:Disease	mondo	SCTID:203045001|EFO:0004229|NCIT:C3469|HP:0005679|EFO:1000438|MESH:D004387		palmar fibromatosis|Dupuytren contracture (disease)|Dupuytren contracture|Dupuytren's contracture|Dupuytren contracture|palmar part of manus fibromatosis	http://purl.obolibrary.org/obo/MONDO_0006345	A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects adult males.	MESH:D004387|SNOMEDCT:203045001|NCIT:C3469
MONDO:0006346	pancreatic acinar cell carcinoma	biolink:Disease	mondo	UMLS:C0279661|ICD10:C25.8|DOID:5742|ICD10:C25.7|ONCOTREE:PAAC|EFO:1000439|ICD10:C25.2|Orphanet:424046|ICD10:C25.1|NCIT:C7977|ICD10:C25.0	ordo_disease	carcinoma of pancreatic acinar cell|acinar cell carcinoma of the pancreas|pancreatic acinar cell carcinoma|pancreas acinar cell adenocarcinoma|pancreatic acinar cell adenocarcinoma|acinar cell adenocarcinoma of pancreas|acinar cell adenocarcinoma of the pancreas|PAAC|acinar cell carcinoma of pancreas|Pancreatic acinar cell cancer	http://purl.obolibrary.org/obo/MONDO_0006346	An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis.	ORPHA:424046|UMLS:C0279661|DOID:5742|NCIT:C7977
MONDO:0006343	ovarian transitional cell carcinoma	biolink:Disease	mondo	UMLS:C1335184|NCIT:C5240|DOID:4000|EFO:1000435		transitional cell carcinoma of ovary|ovary transitional cell carcinoma|ovarian transitional cell carcinoma|malignant ovarian transitional cell neoplasm|ovarian transitional cell cancer|transitional cell carcinoma of the ovary|ovarian transitional cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0006343	A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present.	DOID:4000|NCIT:C5240|UMLS:C1335184
MONDO:0006344	ovarian yolk sac tumor	biolink:Disease	mondo	UMLS:C0346188|NCIT:C8107|SCTID:254876005|EFO:1000437|DOID:5350|ONCOTREE:OYST		ovarian yolk Sac neoplasm|yolk Sac neoplasm of ovary|ovarian yolk sac tumor|germ cell endodermal sinus neoplasm of the ovary|endodermal sinus tumor of the ovary|ovarian germ cell endodermal sinus tumor|germ cell endodermal sinus neoplasm of ovary|endodermal sinus tumor of ovary|ovarian endodermal sinus neoplasm|endodermal sinus neoplasm of the ovary|ovary yolk sac tumor|ovarian endodermal sinus tumor|germ cell endodermal sinus tumor of the ovary|endodermal sinus neoplasm of ovary|yolk sac tumor|germ cell endodermal sinus tumor of ovary|yolk Sac tumor of the ovary|yolk Sac tumor of ovary|ovarian germ cell endodermal sinus neoplasm|yolk Sac neoplasm of the ovary	http://purl.obolibrary.org/obo/MONDO_0006344	A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular.	DOID:5350|SNOMEDCT:254876005|NCIT:C8107|UMLS:C0346188
MONDO:0006341	obsolete ovarian small cell carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006341		
MONDO:0006342	obsolete ovarian squamous cell carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006342		
MONDO:0006340	ovarian serous adenofibroma	biolink:Disease	mondo	UMLS:C1518729|DOID:5474|NCIT:C40031|EFO:1000428		ovary serous adenofibroma|serous adenofibroma of ovary|ovarian serous adenofibroma	http://purl.obolibrary.org/obo/MONDO_0006340	A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma.	DOID:5474|UMLS:C1518729|NCIT:C40031
HGNC:1393	CACNA1F	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1393		
MONDO:0018319	familial episodic pain syndrome	biolink:Disease	mondo	ICD10:M79.6|UMLS:CN228162|UMLS:CN204967|DOID:0111728|Orphanet:391384|OMIMPS:615040|GARD:0012684	gard_rare|ordo_disease	FEPS	http://purl.obolibrary.org/obo/MONDO_0018319		UMLS:CN228162|UMLS:CN204967|ORPHA:391384|DOID:0111728
HGNC:1394	CACNA1G	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1394		
HGNC:1391	CACNA1D	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1391		
MONDO:0018316	fatal post-viral neurodegenerative disorder	biolink:Disease	mondo	Orphanet:391343|ICD10:G04.8|UMLS:CN204961	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018316		UMLS:CN204961|ORPHA:391343
HGNC:1390	CACNA1C	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1390		
MONDO:0018315	X-linked osteoporosis with fractures	biolink:Disease	mondo	Orphanet:391330|ICD10:M80.5	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018315		ORPHA:391330
MONDO:0018318	disorder of asparagine metabolism	biolink:Disease	mondo	Orphanet:391381|UMLS:CN227320	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018318		UMLS:CN227320|ORPHA:391381
MONDO:0018317	growth retardation-mild developmental delay-chronic hepatitis syndrome	biolink:Disease	mondo	Orphanet:391366|UMLS:CN204964	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018317		UMLS:CN204964|ORPHA:391366
MONDO:0018312	histoplasmosis	biolink:Disease	mondo	ICD9:115|ICD10:B39.9|UMLS:C0019655|ICD10:B39.5|SCTID:12962009|MedDRA:10021808|Orphanet:390|ICD10:B39.4|MedDRA:10020141|DOID:1731|ICD10:B39.3|ICD9:115.9|ICD10:B39.2|ICD9:115.99|ICD10:B39.1|ICD10:B39.0|NCIT:C77201|ICD9:115.90|COHD:433134|EFO:0007310|ICD10:B39|MESH:D006660	ordo_disease	Histoplasma infectious disease|Histoplasma caused disease or disorder|darling disease|Histoplasma disease or disorder	http://purl.obolibrary.org/obo/MONDO_0018312	A disease caused by the fungus Histoplasma capsulatum. It primarily affects the lungs but can also occur as a disseminated disease that affects additional organs. The acute respiratory disease has symptoms similar to those of a cold or flu and it usually resolves without treatment in healthy individuals. The disseminated form is generally fatal if untreated.	NCIT:C77201|ORPHA:390|MEDDRA:10020141|MEDDRA:10021808|MESH:D006660|UMLS:C0019655|SNOMEDCT:12962009|UMLS:C0153261|DOID:1731
MONDO:0021953	tuberculous fibrosis of lung	biolink:Disease	mondo	ICD9:011.40|NCIT:C35088|UMLS:C0041336|SCTID:90117007|ICD9:011.46|ICD9:011.44|ICD9:011.43|ICD9:011.42|ICD9:011.41		tuberculous fibrosis of lung|Tuberculous fibrosis of lung|Tuberculous Fibrosis of Lung	http://purl.obolibrary.org/obo/MONDO_0021953	Scarring of the lung parenchyma caused by pulmonary tuberculosis.	UMLS:C0041336|SNOMEDCT:90117007|NCIT:C35088
MONDO:0018311	acromelanosis	biolink:Disease	mondo	Orphanet:39|GARD:0004500|ICD9:709.09|SCTID:239089006|ICD10:L81.4	gard_rare|ordo_disease	progressive acromelanosis	http://purl.obolibrary.org/obo/MONDO_0018311	Acromelanosis is a congenital hyperpigmentation of the skin usually located on the acral areas of the fingers and toes. It is mostly observed in newborns or during the first years of life.	UMLS:C0406779|ORPHA:39|SNOMEDCT:239089006
MONDO:0018314	infantile-onset mesial temporal lobe epilepsy with severe cognitive regression	biolink:Disease	mondo	UMLS:CN204956|ICD10:G40.2|Orphanet:391316	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018314	Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression is a rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities.	UMLS:CN204956|ORPHA:391316
CHEBI:22712	benzenes	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_22712	Any benzenoid aromatic compound consisting of the benzene skeleton and its substituted derivatives.	
MONDO:0018313	obsolete uveal melanoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018313		
MONDO:0021957	autosomal recessive nonsyndromic congenital nuclear cataract	biolink:Disease	mondo	GARD:0009492|UMLS:C2931470|MESH:C537298	gard_rare	congenital nuclear cataract, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0021957		MESH:C537298|UMLS:C2931470
HGNC:1397	CACNA1S	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1397		
CHEBI:22718	benzoates	biolink:ChemicalSubstance	mondo			benzoate anion	http://purl.obolibrary.org/obo/CHEBI_22718	A monocarboxylic acid anion obtained by deprotonation of the carboxy group of any benzoic acid.	
MONDO:0018310	Langerhans cell histiocytosis	biolink:Disease	mondo	ICDO:9751/1|UMLS:C0432554|ICD9:277.89|MedDRA:10069698|UMLS:C0432553|ICD9:202.5|UMLS:C0432552|UMLS:C0019621|UMLS:C0432551|UMLS:C0432550|OMIM:604856|GARD:0006858|NCIT:C3107|ICD10:C96.6|Orphanet:389|DOID:2571|ICD10:C96.5|COHD:4278365|ICDO:9754/3|ONCOTREE:LCH|EFO:1000318|UMLS:C0432549|SCTID:65399007|UMLS:C0432548|ICDO:9753/1|ICDO:9751/3|UMLS:C0432547|ICDO:9752/1|ICD10:C96.0	ordo_group_of_disorders	letterer-Siwe disease of lymph nodes of head, face and/or neck|letterer-Siwe disease involving intrapelvic lymph nodes|Langerhans cell histiocytosis, NOS|letterer-Siwe disease involving lymph nodes of axilla and upper limb|letterer-Siwe disease involving lymph nodes of head, face, and neck|letterer-Siwe disease of lymph nodes of axilla and/or upper limb|letterer-Siwe disease of spleen|letterer-Siwe disease involving lymph nodes of multiple sites|letterer-Siwe disease involving lymph nodes of head, face and neck|Langerhan's cell histiocytosis|letterer-Siwe disease involving lymph nodes of inguinal region and lower limb|letterer-Siwe disease involving intra-abdominal lymph nodes|histiocytosis X|letterer-Siwe disease involving intrathoracic lymph nodes|letterer-Siwe disease of intrapelvic lymph nodes|letterer-Siwe disease of lymph nodes of multiple sites|letterer-Siwe disease involving spleen|letterer-Siwe disease of lymph nodes of axilla and upper limb|letterer-Siwe disease|letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb|Langerhans cell histiocytosis, Not otherwise specified|letterer-Siwe disease of lymph nodes of inguinal region and lower limb|letterer-Siwe disease of lymph nodes of head, face and neck|letterer-Siwe disease of intra-abdominal lymph nodes|letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb|LCH|Langerhans cell granulomatosis|letterer-Siwe disease of intrathoracic lymph nodes|Lch|Langerhans-cell histiocytosis|Langerhans cell histiocytosis	http://purl.obolibrary.org/obo/MONDO_0018310	Langerhans cell histiocytosis (LCH) is a systemic disease associated with the proliferation and accumulation (usually in granulomas) of Langerhans cells in various tissues.	SNOMEDCT:65399007|ORPHA:389|UMLS:C0432549|UMLS:C0432547|UMLS:C0432548|UMLS:C0432552|UMLS:C0432553|UMLS:C0432550|UMLS:C0432551|UMLS:C0432554|MESH:D006646|DOID:2571|UMLS:C0019621|MEDDRA:10069698|http://identifiers.org/omim/604856|NCIT:C3107
HGNC:1395	CACNA1H	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1395		
MONDO:0006318	obsolete nevus of Ito	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006318		
MONDO:0006319	obsolete nevus of Ota	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006319		
MONDO:0006316	neuroblastic tumor	biolink:Disease	mondo	NCIT:C6963|EFO:1000393|UMLS:C1334953		neuroblastic tumor	http://purl.obolibrary.org/obo/MONDO_0006316	A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells.	NCIT:C6963|UMLS:C1334953
MONDO:0008979	chorea, benign familial	biolink:Disease	mondo	UMLS:C1859098|GARD:0001305|MESH:C565851|OMIM:215450	gard_rare	benign hereditary chorea|chorea, benign familial|chorea familial benign	http://purl.obolibrary.org/obo/MONDO_0008979	Benign hereditary chorea (BHC) is a rare movement disorder that beginsin infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can havenormal intellect, but may have learning and behavior problems. Other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections). Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion.	UMLS:C1859098|http://identifiers.org/omim/215450|MESH:C565851
MONDO:0006317	neurothekeoma	biolink:Disease	mondo	NCIT:C7018|ICDO:9562/0|UMLS:C0206730|EFO:1000394|MESH:D018321		nerve sheath Myxoma|neurothekeoma	http://purl.obolibrary.org/obo/MONDO_0006317	A benign neoplasm arising from nerve sheaths. It is characterized by the presence of a myxoid stroma.	MESH:D018321|NCIT:C7018|UMLS:C0206730
MONDO:0008978	chordoma (disease)	biolink:Disease	mondo	ONCOTREE:CHDM|OMIM:215400|MESH:D002817|ICD10:C76.7|NCIT:C2947|MedDRA:10008747|Orphanet:178|DOID:3302|UMLS:C0008487|HP:0010762|GARD:0001303|ICDO:9370/3	ordo_disease	chordoma|chordoma, susceptibility to|CHDM|chordoma, malignant|notochordal sarcoma|notochordoma|chordoma, susceptibility to; CHDM|susceptibility to chordoma	http://purl.obolibrary.org/obo/MONDO_0008978	Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton.	MEDDRA:10008747|MESH:D002817|NCIT:C2947|ORPHA:178|http://identifiers.org/omim/215400|UMLS:C0008487|DOID:3302
MONDO:0021950	autoimmune oophoritis	biolink:Disease	mondo	MESH:C538274|UMLS:C0878654|GARD:0009461	gard_rare		http://purl.obolibrary.org/obo/MONDO_0021950	Autoimmune oophoritis is a rare cause of primary ovarian insufficiency (POI). It happens when the body's immune system mistakenly attacks the ovaries causing inflammation, atrophy and fibrosis. These changes stop the ovaries from working normally. The main symptoms of autoimmune oophorotis are irregular or absent menstrual period (amenorrhea) and symptoms related to ovarian cysts such as abdominal cramping, bloating, nausea and vomiting. Autoimmune oophoritis may occur as part of autoimmune polyglandular syndrome type I and type II but has also been associated with lupus, pernicious anemia, myasthenia gravis and other autoimmune conditions. The underlying cause of autoimmune oophoritis is unknown. Diagnosis involves a special blood test which looks for anti-steroid or anti-ovarian antibodies, a pelvic ultrasound to look for enlarged cystic ovaries and tests to rule out other possible causes of POI. Management of autoimmune oophoritis involves emotional support, possible estrogen replacement therapy and management of other autoimmune conditions.	UMLS:C0878654|MESH:C538274
MONDO:0006314	nasal cavity polyp	biolink:Disease	mondo	EFO:1000391|MESH:D009298|UMLS:C0027430|ICD9:471.0|COHD:253788|NCIT:C3256|SCTID:52756005|ICD9:471.9		nasal polyp|polyp of nasal cavity|polyp of the nasal cavity|nasal cavity polyp	http://purl.obolibrary.org/obo/MONDO_0006314	A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection.	NCIT:C3256|UMLS:C0027430|MESH:D009298|SNOMEDCT:52756005
MONDO:0008977	chondrosarcoma (disease)	biolink:Disease	mondo	HP:0006765|ONCOTREE:CHS|MESH:D002813|SCTID:443520009|ICD9:170.9|Orphanet:55880|EFO:0000333|GARD:0006055|MedDRA:10008734|ICDO:9220/3|DOID:3371|OMIM:215300|UMLS:C0008479|NCIT:C2946|ICD10:C49.9	ordo_disease	chondrosarcoma|chondrosarcoma, malignant|primary chondrosarcoma of the bone|chondrosarcoma of bone	http://purl.obolibrary.org/obo/MONDO_0008977	A malignant cartilaginous matrix-producing mesenchymal neoplasm arising from the bone and soft tissue. It usually affects middle-aged to elderly adults. The pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion.	MEDDRA:10008734|SNOMEDCT:443520009|MESH:D002813|NCIT:C2946|http://identifiers.org/omim/215300|UMLS:C0008479|DOID:3371|ORPHA:55880
MONDO:0008976	chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome	biolink:Disease	mondo	OMIM:215250|UMLS:C1859104|MESH:C565852		chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome	http://purl.obolibrary.org/obo/MONDO_0008976		UMLS:C1859104|http://identifiers.org/omim/215250|MESH:C565852
MONDO:0006315	obsolete neoplastic medium-sized B-lymphocyte with basophilic cytoplasm	biolink:Disease	mondo	NCIT:C37005|EFO:1000392			http://purl.obolibrary.org/obo/MONDO_0006315		NCIT:C37005
MONDO:0021952	autoimmune progesterone dermatitis	biolink:Disease	mondo	UMLS:C1260879|MESH:C535299|SCTID:400009001|GARD:0009139|ICD9:708.8	gard_rare	autoimmune progesterone urticaria|APD|autoimmune progesterone dermatitis|autoimmune progesterone dermatitis/urticaria|progesterone dermatitis	http://purl.obolibrary.org/obo/MONDO_0021952	Autoimmune progesterone dermatitis (APD) is primarily characterized by a recurrent skin rash that varies in severity depending on the phase of the menstrual cycle. The rash generally appears during the second half of the cycle when levels of the hormone, progesterone, begin to rise and it subsides shortly after menstruation. Although the exact underlying cause of APD is not well understood, it is thought to involve an abnormal immune reaction (autoimmune response) triggered by a woman's own progesterone. Depending on the severity of the condition, treatment may include topical (applied to the skin) medications, systemic corticosteroids, hormone therapy to suppress the production of progesterone, and/or surgical removal of the ovaries.	MESH:C535299|SNOMEDCT:400009001|UMLS:C1260879
MONDO:0006312	myofibroma	biolink:Disease	mondo	NCIT:C7052|UMLS:C1266121|ONCOTREE:MF|EFO:1000389|MESH:D047708|ICDO:8824/0|DOID:4386		infantile hemangiopericytoma|myofibroma (morphologic abnormality)|lipoleiomyoma|myofibroma	http://purl.obolibrary.org/obo/MONDO_0006312	A benign, localized, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma.	UMLS:C1266121|NCIT:C7052|DOID:4386|MESH:D047708
MONDO:0008975	otospondylomegaepiphyseal dysplasia	biolink:Disease	mondo	Orphanet:1427|ICD10:Q77.7|SCTID:254060000|OMIMPS:184840|DOID:0080026|GARD:0004130|ICD9:759.89	ordo_disease	chondrodystrophy with sensorineural deafness|OSMED|Nance-Sweeney chondrodysplasia|otospondylomegaepiphyseal dysplasia|otospondylomegaepiphyseal dysplasia; OSMED|Nance Sweeney chondrodysplasia|otospondylmegaepiphyseal dysplasia|oto-spondylo-mega-epiphyseal dysplasia|OSMED syndrome|Nance-Insley syndrome|Insley-Astley syndrome	http://purl.obolibrary.org/obo/MONDO_0008975	Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.	DOID:0080026|ORPHA:1427|SNOMEDCT:254060000
MONDO:0006313	nabothian cyst	biolink:Disease	mondo	EFO:1000390|NCIT:C34835|SCTID:24565001|UMLS:C0027269|Wikipedia:Nabothian_cyst			http://purl.obolibrary.org/obo/MONDO_0006313	A benign, mucus-filled cervical cyst that occurs when mucus-secreting columnar epithelial cells are covered with squamous epithelium.	UMLS:C0027269|SNOMEDCT:24565001|NCIT:C34835
MONDO:0008974	Greenberg dysplasia	biolink:Disease	mondo	SCTID:389261002|UMLS:CN199524|Orphanet:1426|MESH:C535858|ICD10:Q77.3|OMIM:215140|UMLS:C2931048|GARD:0008754|DOID:0111588	gard_rare|ordo_disease	skeletal dysplasia, Greenberg type|autosomal recessive lethal chondrodystrophy with congenital hydrops|GRBGD|hydrops-ectopic calcification-moth-eaten skeletal dysplasia|moth-eaten skeletal dysplasia|chondrodystrophy, hydropic and prenatally lethal type|Greenberg skeletal dysplasia|Greenberg dysplasia; GRBGD|Greenberg dysplasia|hem|hem/Greenberg dysplasia|hem dysplasia|hem skeletal dysplasia|hydrops-ectopic calcification-motheaten syndrome|hydrops, ectopic calcification, moth-eaten skeletal dysplasia	http://purl.obolibrary.org/obo/MONDO_0008974	A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.	SNOMEDCT:389261002|MESH:C537299|http://identifiers.org/omim/215140|ORPHA:1426|DOID:0111588|UMLS:C1300226|MESH:C535858|UMLS:CN199524|UMLS:C2931048
MONDO:0008973	chondrodysplasia punctata, Toriello type	biolink:Disease	mondo	OMIM:215105|Orphanet:79347|MESH:C565853|SCTID:715631005|ICD10:Q77.3	ordo_malformation_syndrome	chondrodysplasia punctata syndrome|Toriello-Higgins-Miller syndrome	http://purl.obolibrary.org/obo/MONDO_0008973	Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported.	http://identifiers.org/omim/215105|ORPHA:79347|MESH:C565853|SNOMEDCT:715631005
MONDO:0006310	obsolete mucinuos carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006310		
MONDO:0006311	myelodysplastic/myeloproliferative Neoplasm	biolink:Disease	mondo	ONCOTREE:MDS%2FMPN|NCIT:C27262|SCTID:445738007|EFO:1000388|DOID:4972|ICDO:9975/3		myelodysplastic/myeloproliferative diseases|myelodysplastic/myeloproliferative Neoplasm|MDS/MPN|myelodysplastic/myeloproliferative disorders|myeloproliferative/myelodysplastic disorders|MDS-MPD|MPD-MDS|myelodysplastic/myeloproliferative neoplasms|myelodysplastic/myeloproliferative disorder|myeloproliferative/myelodysplastic syndromes|MDS/MPD|MPD/MDS|myelodysplastic/myeloproliferative disease|myelodysplastic myeloproliferative disease|myelodysplastic myeloproliferative cancer	http://purl.obolibrary.org/obo/MONDO_0006311	A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation.	SNOMEDCT:445738007|DOID:4972|NCIT:C27262
MONDO:0008972	rhizomelic chondrodysplasia punctata type 1	biolink:Disease	mondo	ICD10:Q77.3|UMLS:C1859133|OMIM:215100|Orphanet:309789|GARD:0006049|DOID:0110851	gard_rare|ordo_etiological_subtype	chondrodysplasia punctata, rhizomelic form|rhizomelic chondrodysplasia punctata, type 1; RCDP1|rhizomelic chondrodysplasia punctata, type 1|Rcdp1|chondrodystrophia calcificans punctata|PEX7 rhizomelic chondrodysplasia punctata|rhizomelic chondrodysplasia punctata caused by mutation in PEX7|RCDP1|Pbd9|peroxisome biogenesis disorder 9	http://purl.obolibrary.org/obo/MONDO_0008972	Rhizomelic chondrodysplasia punctata type 1 (RCDP1) is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause.	http://identifiers.org/omim/215100|DOID:0110851|ORPHA:309789|UMLS:C1859133
MONDO:0008971	chondrodysplasia calcificans Metaphysealis	biolink:Disease	mondo	GARD:0010613|MESH:C565855|UMLS:C1859147|OMIM:215050	gard_rare	chondrodysplasia calcificans Metaphysealis	http://purl.obolibrary.org/obo/MONDO_0008971		http://identifiers.org/omim/215050|MESH:C565855|UMLS:C1859147
MONDO:0008970	chondrodysplasia Blomstrand type	biolink:Disease	mondo	Orphanet:50945|NCIT:C131420|OMIM:215045|DOID:0060387|UMLS:C1859148|ICD10:Q78.8|MESH:C537914|GARD:0000914	ordo_malformation_syndrome|gard_rare	BOCD|Blomstrand osteochondrodysplasia|Blomstrand type chondrodysplasia|chondrodysplasia, Blomstrand type|BLC|Blomstrand chondrodysplasia|chondrodysplasia, Blomstrand type; BOCD|Blomstrand lethal chondrodysplasia|Blomstrand lethal osteochondrodysplasia|Blomstrand's lethal chondrodysplasia	http://purl.obolibrary.org/obo/MONDO_0008970	Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.	ORPHA:50945|http://identifiers.org/omim/215045|MESH:C537914|NCIT:C131420|DOID:0060387|UMLS:C1859148
MONDO:0018309	Hirschsprung disease	biolink:Disease	mondo	GARD:0006660|UMLS:C0019569|DOID:10487|UMLS:C3661523|Orphanet:388|OMIMPS:142623|COHD:194149|MESH:D006627|NCIT:C34700|ICD10:Q43.1|SCTID:204739008|MedDRA:10010539	ordo_disease	Hirschsprung's disease|total intestinal aganglionosis|congenital intestinal aganglionosis|HSCR|congenital megacolon|macrocolon|Hirschsprung disease|Hirschsprung disease susceptibility|pelvirectal achalasia|aganglionic megacolon	http://purl.obolibrary.org/obo/MONDO_0018309	Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.	UMLS:C3661523|MESH:D006627|DOID:10487|SNOMEDCT:204739008|ORPHA:388|MEDDRA:10010539|NCIT:C34700|UMLS:C0019569
MONDO:0018308	liver mesenchymal hamartoma	biolink:Disease	mondo	SCTID:715397000|UMLS:C0334091|Orphanet:386|ICD10:D13.4|NCIT:C5751|UMLS:C1333971|GARD:0002651	ordo_disease|gard_rare	MHL|hepatic mesenchymal hamartoma|Von Meyenburg complexes disease|mesenchymal hamartoma of liver|VMC|liver mesenchymal hamartoma|hepatic cystic hamartoma|liver MH|mesenchymal hamartoma of the liver|biliary hamartoma	http://purl.obolibrary.org/obo/MONDO_0018308	A multicystic, tumor-like hamartomatous lesion that arises from the liver during fetal development. Clinically, it usually presents as an abdominal mass associated with abdominal distention. Following resection, the prognosis is usually good.	SNOMEDCT:715397000|UMLS:C0334091|NCIT:C5751|UMLS:C1333971|ORPHA:386
MONDO:0018305	chronic granulomatous disease	biolink:Disease	mondo	UMLS:C0018203|SCTID:387759001|MedDRA:10008906|GARD:0006100|NCIT:C26788|MESH:D006105|Orphanet:379|OMIMPS:306400|DOID:3265|ICD10:D71	gard_rare|ordo_disease	granulomatous disease, chronic|CGD|chronic septic granulomatosis|Bridges-Good syndrome|Quie syndrome|congenital dysphagocytosis	http://purl.obolibrary.org/obo/MONDO_0018305	Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.	NCIT:C26788|MEDDRA:10008906|ORPHA:379|DOID:3265|MESH:D006105|SNOMEDCT:387759001|UMLS:C0018203
MONDO:0018304	Schnitzler syndrome	biolink:Disease	mondo	ICD9:708.8|MESH:D019873|MedDRA:10062908|GARD:0012390|UMLS:C0524988|EFO:1001165|Orphanet:37748|DOID:4371|SCTID:402415001|ICD10:L50.8	ordo_malformation_syndrome|gard_rare	chronic urticaria with gammapathy|chronic urticaria with gammopathy|chronic urticaria with macroglobulinemia	http://purl.obolibrary.org/obo/MONDO_0018304	Schnitzler syndrome is a rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response.	DOID:4371|UMLS:C0524988|ORPHA:37748|MEDDRA:10062908|MESH:D019873|SNOMEDCT:402415001
MONDO:0018307	neurodegeneration with brain iron accumulation	biolink:Disease	mondo	Orphanet:385|GARD:0011899|ICD10:G23.0|OMIMPS:234200|DC:0000320|DOID:0110734|MESH:C538421	ordo_group_of_disorders	NBIA	http://purl.obolibrary.org/obo/MONDO_0018307	Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system.	UMLS:C2931845|MESH:C538421|ORPHA:385|DOID:0110734
MONDO:0018306	Griscelli syndrome	biolink:Disease	mondo	GARD:0010913|SCTID:37548006|UMLS:CN204933|DC:0000356|DOID:0060831|OMIMPS:214450|ICD9:270.2|ICD10:E70.3|Orphanet:381	gard_rare|ordo_disease	Griscelli-Pruni��ras syndrome|Ch��diak-Higashi-like syndrome|Chédiak-Higashi-like syndrome|Griscelli-PruniC)ras syndrome|partial albinism-immunodeficiency syndrome|Griscelli-Pruniéras syndrome|Griscelli disease|ChC)diak-Higashi-like syndrome	http://purl.obolibrary.org/obo/MONDO_0018306	Griscelli syndrome (GS) is characterised by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3).	DOID:0060831|SNOMEDCT:37548006|UMLS:CN204933|ORPHA:381
MONDO:0018301	interstitial cystitis	biolink:Disease	mondo	UMLS:C0600040|ICD9:595.1|Orphanet:37202|UMLS:C1720830|MedDRA:10011796|SCTID:111409009|DOID:1678|UMLS:C0282488|DOID:13949|NCIT:C27189|COHD:75863|UMLS:CN204884|MESH:D018856|MedDRA:10008927|EFO:1000869|SCTID:197834003|ICD10:N30.1	ordo_disease	chronic interstitial cystitis|interstitial cystitis, chronic|interstitial cystitis/bladder pain syndrome|IC/BPS|bladder pain syndrome|IC/PBS|painful bladder syndrome|interstitial cystitis/painful bladder syndrome|ulcerative cystitis	http://purl.obolibrary.org/obo/MONDO_0018301	Interstitial cystitis, also known as bladder pain syndrome (IC/BPS), is a rare chronic debilitating urogenital disease characterized by urinary frequency, urgency, and pelvic pain.	UMLS:C1720830|UMLS:CN204884|SNOMEDCT:197834003|MEDDRA:10011796|SNOMEDCT:111409009|UMLS:C0282488|UMLS:C0600040|ORPHA:37202|NCIT:C27189|DOID:13949|DOID:1678|MESH:D018856
MONDO:0021943	tuberculoma	biolink:Disease	mondo	UMLS:C0041295|MESH:D014375|SCTID:15202009		Tuberculomas|Tuberculoma	http://purl.obolibrary.org/obo/MONDO_0021943	A tumor-like mass resulting from the enlargement of a tuberculous lesion.	MESH:D014375|UMLS:C0041295|SNOMEDCT:15202009
MONDO:0018300	obsolete genetic hyperaldosteronism	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018300		
MONDO:0021944	auditory neuropathy	biolink:Disease	mondo	UMLS:C1852271|GARD:0009274|UMLS:C2732267|NCIT:C116364|SCTID:443805006|MESH:C538268|OMIMPS:609129	gard_rare	familial auditory neuropathy|progressive auditory neuropathy|auditory dys-synchrony|auditory neuropathy|ANSD|auditory neuropathy spectrum disorder	http://purl.obolibrary.org/obo/MONDO_0021944	A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception.	MESH:C538268|SNOMEDCT:443805006|NCIT:C116364|UMLS:C1852271|UMLS:C2732267
MONDO:0018303	generalized isolated dystonia	biolink:Disease	mondo	Orphanet:376724|ICD10:G24.1	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018303		ORPHA:376724
MONDO:0018302	acquired kinky hair syndrome	biolink:Disease	mondo	ICD10:L67.8|UMLS:CN204889|Orphanet:37559	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018302	Acquired progressive kinking of the hair (APKH) is a rare hair disorder characterized by the appearance of lustreless, curly, frizzy, and coarse hair generally during adolescence predominantly in the frontal, temporal, and vertex regions of the scalp. Eyelashes, as well as growth and pigmentation of the hair, may also be affected.	UMLS:CN204889|ORPHA:37559
MONDO:0021945	hearing disorder	biolink:Disease	mondo	UMLS:C0260662|NCIT:C3078|MESH:D006311|SCTID:128540005		auditory alteration|hearing disorder|disorder of hearing	http://purl.obolibrary.org/obo/MONDO_0021945	A disorder characterized by the partial or complete loss of the ability to detect sounds due to damage to the ear structures or inability of the brain to properly interpret or process the auditory signals it receives from the anatomic structures of the ear.	MESH:D006311|SNOMEDCT:128540005|NCIT:C3078|UMLS:C0260662
MONDO:0021948	cutaneous tuberculosis	biolink:Disease	mondo	UMLS:C0041309|EFO:1001443|SCTID:66986005		Tuberculoses, Skin|Tuberculosis of skin|Skin Tuberculosis|Tuberculosis, Skin|tuberculosis cutis|Tuberculosis, Cutaneous|tuberculosis of skin|Cutaneous Tuberculoses|cutaneous tuberculosis|tuberculoderma|Tuberculoses, Cutaneous|Tuberculosis cutis|Cutaneous Tuberculosis|Cutaneous tuberculosis|Tuberculoderma|Skin Tuberculoses	http://purl.obolibrary.org/obo/MONDO_0021948		UMLS:C0041309|SNOMEDCT:66986005
MONDO:0006329	olfactory neuroblastoma	biolink:Disease	mondo	EFO:1000407|ICDO:9523/3|ICDO:9522/3|ONCOTREE:ONBL|DOID:369|NCIT:C3789		paranasal sinus olfactory neuroblastoma|olfactory neuroblastoma|esthesioneuroblastoma (morphologic abnormality)|esthesioneuroblastoma|Esthesioneuroepithelioma|Esthesioneuroepithelioma (morphologic abnormality)|Asthesioneuroblastoma (morphologic abnormality)|olfactory neuroepithelioma|Asthesioneuroblastoma|olfactory esthesioneuroblastoma|Esthesioneuroepithelioma [dup] (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0006329	An olfactory neuroblastoma arising in the paranasal sinus.	NCIT:C3789|DOID:369
MONDO:0006327	ocular sebaceous carcinoma	biolink:Disease	mondo	EFO:1000405|UMLS:C1709308|NCIT:C43340		eye sebaceous carcinoma|ocular sebaceous carcinoma	http://purl.obolibrary.org/obo/MONDO_0006327	Ocular sebaceous carcinoma is a rare condition and accounts for 1% to 5.5% of eyelid malignancies and is the third most common eyelid malignancy after basal cell and squamous cell carcinoma. It usually affects elderly women, has a high rate of local recurrence, and a tendency to regional and distant metastases.	UMLS:C1709308|NCIT:C43340
MONDO:0006328	odontogenic cyst	biolink:Disease	mondo	EFO:1000406|MESH:D009807|Wikipedia:Odontogenic_cyst|NCIT:C54220|ICD9:526.89|SCTID:235110008			http://purl.obolibrary.org/obo/MONDO_0006328	A cyst in the jaw that arises from tissues of tooth development.	NCIT:C54220|SNOMEDCT:235110008|MESH:D009807
MONDO:0008989	citrulline transport defect	biolink:Disease	mondo	UMLS:C1859084|GARD:0009949|OMIM:215720|MESH:C536207	gard_rare	citrulline transport defect	http://purl.obolibrary.org/obo/MONDO_0008989		UMLS:C1859084|MESH:C536207|http://identifiers.org/omim/215720
MONDO:0008988	citrullinemia type I	biolink:Disease	mondo	OMIM:215700|SCTID:398680004|Orphanet:247525|ICD10:E72.2|MedDRA:10058298|NCIT:C150601|DOID:0070340|GARD:0006114	ordo_disease	CTNL1|citrullinemia 1|ASS deficiency|classic citrullinemia|citrullinemia type 1|Citrullinuria|CTLN1|citrullinemia, classic|argininosuccinate synthetase deficiency|argininosuccinic acid synthase deficiency|citrullinemia, type 1|argininosuccinate synthase deficiency|argininosuccinic acid synthetase deficiency	http://purl.obolibrary.org/obo/MONDO_0008988	Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I).	DOID:0070340|NCIT:C150601|http://identifiers.org/omim/215700|MEDDRA:10058298|SNOMEDCT:398680004|ORPHA:247525
MONDO:0006325	ocular melanoma	biolink:Disease	mondo	NCIT:C8562|EFO:1000403|DOID:1752|ONCOTREE:OM|GARD:0007236		eyeball of camera-type eye melanoma|melanoma of the eye|melanoma of eye|ocular melanoma|OM|eye melanoma|eyeball of camera-type eye melanoma (disease)|intraocular melanoma|melanoma (disease) of eyeball of camera-type eye|eye melanoma (disease)	http://purl.obolibrary.org/obo/MONDO_0006325	A melanoma that arises from the structures of the eye or ocular adnexa.	DOID:1752|NCIT:C8562
MONDO:0021941	infection by Trypanosoma rhodesiense	biolink:Disease	mondo	SCTID:42872003|NCIT:C35085|UMLS:C0041233|ICD9:086.4		rhodesian sleeping sickness|infection caused by trypanosoma rhodesiense|rhodesian trypanosomiasis|infection by trypanosoma rhodesiense|acute sleeping sickness|rhodesian trypanosomiasis	http://purl.obolibrary.org/obo/MONDO_0021941	An infection with Trypanosoma brucei rhodesiense.	UMLS:C0041233|SNOMEDCT:42872003|NCIT:C35085
MONDO:0006326	ocular melanoma with extraocular extension	biolink:Disease	mondo	EFO:1000404|NCIT:C7913|UMLS:C0278869		ocular melanoma with extraocular extension|extraocular extension melanoma|extraocular extension of melanoma	http://purl.obolibrary.org/obo/MONDO_0006326	A melanoma arising from and extending beyond the structures of the eye.	UMLS:C0278869|NCIT:C7913
MONDO:0008987	obsolete cirrhosis, familial	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0008987		
MONDO:0008986	circumvallate placenta syndrome	biolink:Disease	mondo	MESH:C565847|UMLS:C1859089|OMIM:215550		circumvallate placenta syndrome	http://purl.obolibrary.org/obo/MONDO_0008986		http://identifiers.org/omim/215550|MESH:C565847|UMLS:C1859089
MONDO:0006323	non-seminomatous lesion	biolink:Disease	mondo	EFO:1000401			http://purl.obolibrary.org/obo/MONDO_0006323	A group of testicular cancers that begin in the germ cells (cells that give rise to sperm). Nonseminomas are identified by the type of cell in which they begin and include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac carcinoma.	NCIT:C36127
MONDO:0006324	normal breast-like subtype of breast carcinoma	biolink:Disease	mondo	NCIT:C53557|EFO:1000402|UMLS:C3642471		normal breast-like subtype of breast cancer|normal breast-like subtype of breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0006324	A biologic subset of breast carcinoma defined by high expression of many genes expressed by adipose and other non-epithelial tissues.	UMLS:C3642471|NCIT:C53557
MONDO:0008985	ciliary dyskinesia with transposition of ciliary microtubules	biolink:Disease	mondo	UMLS:C2673817|OMIM:215520|MESH:C567137|GARD:0001361	gard_rare	ciliary dyskinesia, due to transposition of ciliary microtubules|ciliary dyskinesia with transposition of ciliary microtubules	http://purl.obolibrary.org/obo/MONDO_0008985		MESH:C567137|http://identifiers.org/omim/215520|UMLS:C2673817
MONDO:0006321	non-functioning adrenal cortex adenoma	biolink:Disease	mondo	UMLS:C1709240|NCIT:C48458|EFO:1000399		non-functioning adrenal cortical adenoma|non-functioning adrenal cortex adenoma|adrenal cortex non-functioning endocrine neoplasm|adrenal cortical incidentaloma|nonfunctional adrenal cortex adenoma|non-functioning endocrine neoplasm of adrenal cortex	http://purl.obolibrary.org/obo/MONDO_0006321	An adenoma of the adrenal cortex characterized by the absence of a hormonal syndrome or symptoms suggestive of adrenal disease.	UMLS:C1709240|NCIT:C48458
MONDO:0008984	ciliary discoordination due to random ciliary orientation	biolink:Disease	mondo	UMLS:C0340038|SCTID:233667003|ICD9:759.89|OMIM:215518|MESH:C562757|GARD:0001360	gard_rare	ciliary discoordination due to random ciliary orientation|Rutland ciliary disorientation syndrome|ciliary discoordination, due to random ciliary orientation	http://purl.obolibrary.org/obo/MONDO_0008984		http://identifiers.org/omim/215518|SNOMEDCT:233667003|UMLS:C0340038|MESH:C562757
MONDO:0006322	non-neoplastic bile duct disorder	biolink:Disease	mondo	UMLS:C3275160|EFO:1000400|NCIT:C35774		non-neoplastic bile duct disorder	http://purl.obolibrary.org/obo/MONDO_0006322	A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia.	NCIT:C35774|UMLS:C3275160
MONDO:0008983	chromosomal instability with tissue-specific radiosensitivity	biolink:Disease	mondo	OMIM:215510|MESH:C565848		chromosomal instability with tissue-specific radiosensitivity	http://purl.obolibrary.org/obo/MONDO_0008983		http://identifiers.org/omim/215510|MESH:C565848
MONDO:0008982	central areolar choroidal dystrophy	biolink:Disease	mondo	SCTID:312918002|Orphanet:75377|SCTID:231996009|OMIMPS:215500|DC:0000084|ICD10:H31.2|ICD9:363.54|GARD:0010049	ordo_disease	choroidal dystrophy, central areolar, 1|choroidal dystrophy|CACD|CACD1|central areolar choroidal sclerosis|choroidal dystrophy central areolar|areolar atrophy of the macula	http://purl.obolibrary.org/obo/MONDO_0008982	Central areolar choroidal dystrophy (CACD) is a hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity.	ORPHA:75377|MESH:C535358|SNOMEDCT:231996009|SNOMEDCT:312918002
MONDO:0008981	infantile choroidocerebral calcification syndrome	biolink:Disease	mondo	Orphanet:1313|GARD:0001313|MESH:C535357|OMIM:215480|ICD10:G93.8|SCTID:724228005|UMLS:C1859092	ordo_disease	choroid plexus calcification with mental retardation|Choroido-cerebral calcification syndrome with retardation|choroid plexus calcification and mental retardation|choroid plexus calcification and intellectual disability|choroid plexus calcification with intellectual disability	http://purl.obolibrary.org/obo/MONDO_0008981	This syndrome is characterized by intellectual deficit, calcification of the choroid plexus, and elevated levels of cerebrospinal fluid (CSF) protein. It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus, hyperactive deep tendon reflexes and foot deformities.	SNOMEDCT:724228005|ORPHA:1313|http://identifiers.org/omim/215480|MESH:C535357|UMLS:C1859092
MONDO:0006320	non-cutaneous melanoma	biolink:Disease	mondo	UMLS:C1334974|NCIT:C8711|EFO:1000397		non-cutaneous melanoma|extracutaneous melanoma	http://purl.obolibrary.org/obo/MONDO_0006320	Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ)	UMLS:C1334974|NCIT:C8711
MONDO:0008980	ataxia-hypogonadism-choroidal dystrophy syndrome	biolink:Disease	mondo	UMLS:C1859093|GARD:0000944|MESH:C565850|OMIM:215470|ICD10:G11.8|SCTID:715984007|DOID:0111265|Orphanet:1180	ordo_disease	Boucher-Neuhauser syndrome; BNHS|Boucher-Neuhauser syndrome|BNHS|spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy|Boucher-Neuhchäuser syndrome|chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism|Boucher-Neuhäuser syndrome|ataxia - hypogonadism - choroidal dystrophy	http://purl.obolibrary.org/obo/MONDO_0008980	Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome.	SNOMEDCT:715984007|ORPHA:1180|http://identifiers.org/omim/215470|DOID:0111265|MESH:C565850|UMLS:C1859093
GO:0045905	positive regulation of translational termination	biolink:OntologyClass	mondo			activation of translational termination|stimulation of translational termination|upregulation of translational termination|up-regulation of translational termination|up regulation of translational termination	http://purl.obolibrary.org/obo/GO_0045905	Any process that activates or increases the frequency, rate or extent of translational termination.	
GO:0045906	negative regulation of vasoconstriction	biolink:OntologyClass	mondo			down regulation of vasoconstriction|inhibition of vasoconstriction|down-regulation of vasoconstriction|downregulation of vasoconstriction	http://purl.obolibrary.org/obo/GO_0045906	Any process that stops, prevents, or reduces the frequency, rate or extent of vasoconstriction.	
GO:0045904	negative regulation of translational termination	biolink:OntologyClass	mondo			down-regulation of translational termination|down regulation of translational termination|inhibition of translational termination|downregulation of translational termination	http://purl.obolibrary.org/obo/GO_0045904	Any process that stops, prevents, or reduces the frequency, rate or extent of translational termination.	
GO:0045901	positive regulation of translational elongation	biolink:OntologyClass	mondo			upregulation of translational elongation|up regulation of translational elongation|stimulation of translational elongation|activation of translational elongation|up-regulation of translational elongation	http://purl.obolibrary.org/obo/GO_0045901	Any process that activates or increases the frequency, rate or extent of translational elongation.	
GO:0045900	negative regulation of translational elongation	biolink:OntologyClass	mondo			downregulation of translational elongation|down regulation of translational elongation|inhibition of translational elongation|down-regulation of translational elongation	http://purl.obolibrary.org/obo/GO_0045900	Any process that stops, prevents, or reduces the frequency, rate or extent of translational elongation.	
MONDO:0021932	infection by Trypanosoma gambiense	biolink:Disease	mondo	ICD9:086.3|GARD:0008540|UMLS:C0041232|NCIT:C35084|SCTID:75809006	gard_rare	gambiense trypanosomiasis infection|Gambian Trypanosomiasis|gambian trypanosomiasis|Infection caused by Trypanosoma gambiense|Chronic sleeping sickness|infection caused by trypanosoma gambiense|gambian sleeping sickness|chronic sleeping sickness|Gambiense trypanosomiasis infection|Gambian trypanosomiasis|gambian trypanosomiasis|Infection by Trypanosoma gambiense|infection by trypanosoma gambiense|Gambian sleeping sickness	http://purl.obolibrary.org/obo/MONDO_0021932	Trypanosomiasis caused by infection by Trypanosoma brucei gambiense.	NCIT:C35084|UMLS:C0041232|SNOMEDCT:75809006
MONDO:0021935	aspergillus niger infection	biolink:Disease	mondo	MESH:C535390|GARD:0009716	gard_rare	infections, Aspergillus niger|Aspergillus niger infection|Aspergillus niger infection, pulmonary	http://purl.obolibrary.org/obo/MONDO_0021935	A infectious disease involving the Aspergillus niger.	MESH:C535390
HP:0003011	Abnormality of the musculature	biolink:PhenotypicFeature	mondo	UMLS:C4021745		Muscular abnormality	http://purl.obolibrary.org/obo/HP_0003011	Abnormality originating in one or more muscles, i.e., of the set of muscles of body.	
GO:0045907	positive regulation of vasoconstriction	biolink:OntologyClass	mondo			activation of vasoconstriction|upregulation of vasoconstriction|up regulation of vasoconstriction|stimulation of vasoconstriction|up-regulation of vasoconstriction	http://purl.obolibrary.org/obo/GO_0045907	Any process that activates or increases the frequency, rate or extent of vasoconstriction.	
MONDO:0021937	obsolete Asrar Facharzt Haque syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021937		
GO:0043292	contractile fiber	biolink:OntologyClass	mondo			contractile fibre|muscle fiber|muscle fibre	http://purl.obolibrary.org/obo/GO_0043292	Fibers, composed of actin, myosin, and associated proteins, found in cells of smooth or striated muscle.	
NCBITaxon:7371	Calliphoridae	organism taxon	mondo	GC_ID:1		blow-fly|bottle flies|blowflly|blow flies|blow flly|blowflies	http://purl.obolibrary.org/obo/NCBITaxon_7371		
CHEBI:46787	solvent	biolink:ChemicalSubstance	mondo			Loesungsmittel|solvant|solvents	http://purl.obolibrary.org/obo/CHEBI_46787	A liquid that can dissolve other substances (solutes) without any change in their chemical composition.	
GO:0006310	DNA recombination	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0006310	Any process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Interchromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction.	
NCBITaxon:7387	Oestridae	organism taxon	mondo	GC_ID:1		botflies|bot flies|warble flies	http://purl.obolibrary.org/obo/NCBITaxon_7387		
UBERON:0005502	rhombomere roof plate	biolink:AnatomicalEntity	mondo			roof plate hindbrain|future hindbrain roof plate|roof plate rhombomere|roof plate rhombomere region|roof plate rhombomeres	http://purl.obolibrary.org/obo/UBERON_0005502		
UBERON:0005501	rhombomere lateral wall	biolink:AnatomicalEntity	mondo			future hindbrain lateral wall	http://purl.obolibrary.org/obo/UBERON_0005501	A neural tube lateral wall that is part of a rhombomere.	
NCBITaxon:2572478	Oesophagostominae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2572478		
HGNC:3942	MTOR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3942		
UBERON:0029503	sacral spinal cord gray matter	biolink:AnatomicalEntity	mondo			sacral spinal cord gray matter	http://purl.obolibrary.org/obo/UBERON_0029503		
HGNC:3948	FRAXD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3948		
NCBITaxon:319546	Rickettsia conorii subsp. conorii	organism taxon	mondo	GC_ID:11|PMID:15766388			http://purl.obolibrary.org/obo/NCBITaxon_319546		
HGNC:3954	FRG1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3954		
HGNC:3951	FXN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3951		
GO:0021915	neural tube development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0021915	The process whose specific outcome is the progression of the neural tube over time, from its formation to the mature structure. The mature structure of the neural tube exists when the tube has been segmented into the forebrain, midbrain, hindbrain and spinal cord regions. In addition neural crest has budded away from the epithelium.	
MONDO:0008917	heart defects-limb shortening syndrome	biolink:Disease	mondo	SCTID:721009008|GARD:0002613|MESH:C535850|UMLS:C1859327|OMIM:212135|ICD10:Q87.2|Orphanet:1354	gard_rare|ordo_malformation_syndrome	heart defect and limb shortening syndrome|heart defects and limb shortening|cardioskeletal syndrome, KUWAITI type|cardioskeletal syndrome kuwaiti type	http://purl.obolibrary.org/obo/MONDO_0008917	Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male sibs from Kuwaiti first-cousins. The clinical and radiological features of these patients were reported as a distinct cardioskeletal syndrome.	ORPHA:1354|SNOMEDCT:721009008|http://identifiers.org/omim/212135|MESH:C535850|UMLS:C1859327
MONDO:0008916	cardiomyopathy associated with myopathy and sudden death	biolink:Disease	mondo	MESH:C565881|OMIM:212130|UMLS:C1859328		cardiomyopathy associated with myopathy and sudden death	http://purl.obolibrary.org/obo/MONDO_0008916		MESH:C565881|http://identifiers.org/omim/212130|UMLS:C1859328
MONDO:0008915	dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	biolink:Disease	mondo	GARD:0003373|SCTID:719451006|UMLS:C0796031|Orphanet:2229|ICD10:Q87.8|OMIM:212112|DOID:0111584|UMLS:C0796083	ordo_malformation_syndrome	cardiomyopathy with primary testicular failure|Malouf syndrome|cardiomyopathy, dilated, with premature ovarian failure|genital anomaly with cardiomyopathy|cardiomyopathy, dilated, with hypergonadotropic hypogonadism|cardiomyopathy, congestive, with hypergonadotropic hypogonadism|Cardiogenital syndrome|dilated cardiomyopathy with hypergonadotropic hypogonadism|Najjar syndrome	http://purl.obolibrary.org/obo/MONDO_0008915	This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).	DOID:0111584|http://identifiers.org/omim/212112|SNOMEDCT:719451006|UMLS:C0796031|UMLS:C0796083|ORPHA:2229
MONDO:0008914	cardioauditory syndrome of Sanchez Cascos	biolink:Disease	mondo	GARD:0008519|OMIM:212100|MESH:C535577|UMLS:C1859329	gard_rare	Sanchez Cascos cardioauditory syndrome|cardioauditory syndrome of Sanchez Cascos	http://purl.obolibrary.org/obo/MONDO_0008914		MESH:C535577|http://identifiers.org/omim/212100|UMLS:C1859329
HGNC:3959	FRZB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3959		
MONDO:0008913	cardiac valvular defect, developmental	biolink:Disease	mondo	MESH:C565882|OMIM:212093|DOID:0080633|UMLS:C1859330		CARDIAC valvular defect, developmental; CVDD|CVDD|cardiac valvular defect, developmental	http://purl.obolibrary.org/obo/MONDO_0008913		DOID:0080633|http://identifiers.org/omim/212093|MESH:C565882|UMLS:C1859330
MONDO:0008912	cardiac septal defects with coarctation of the aorta	biolink:Disease	mondo	MESH:C565883|UMLS:C1859331|OMIM:212090		cardiac septal defects with coarctation of the aorta	http://purl.obolibrary.org/obo/MONDO_0008912		http://identifiers.org/omim/212090|MESH:C565883|UMLS:C1859331
MONDO:0008911	cardiac lipidosis, familial	biolink:Disease	mondo	MESH:C565884|UMLS:C1859332|OMIM:212080		cardiac lipidosis, familial	http://purl.obolibrary.org/obo/MONDO_0008911		MESH:C565884|http://identifiers.org/omim/212080|UMLS:C1859332
MONDO:0008910	carboxypeptidase N deficiency	biolink:Disease	mondo	NCIT:C132196|SCTID:234627009|ICD9:279.8|OMIM:212070|UMLS:C0398782|MESH:C562876|DOID:0111583		carboxypeptidase N deficiency	http://purl.obolibrary.org/obo/MONDO_0008910	An autosomal recessive condition caused by mutation(s) in the CPN1 gene, encoding carboxypeptidase N catalytic chain. It may be characterized by episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity.	SNOMEDCT:234627009|NCIT:C132196|UMLS:C0398782|DOID:0111583|http://identifiers.org/omim/212070|MESH:C562876
PATO:0001018	physical quality	biolink:OntologyClass	mondo			relational physical quality	http://purl.obolibrary.org/obo/PATO_0001018	A quality of a physical entity that exists through action of continuants at the physical level of organisation in relation to other entities.	
HP:0005607	Abnormal tracheobronchial morphology	biolink:PhenotypicFeature	mondo	Fyler:4232|UMLS:C4021631		Tracheobronchial anomalies	http://purl.obolibrary.org/obo/HP_0005607		
HGNC:3964	FSHB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3964		
HGNC:1301	CFAP298	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1301		
MONDO:0008909	congenital disorder of glycosylation, type i/IIx	biolink:Disease	mondo	GARD:0009840|MESH:C562844|UMLS:C0349655|OMIM:212067	gard_rare	congenital disorder of glycosylation, type i/IIx|congenital disorder of glycosylation type I/IIX|CDG X|CDG-X	http://purl.obolibrary.org/obo/MONDO_0008909		MESH:C562844|http://identifiers.org/omim/212067|UMLS:C0349655
HGNC:3960	FSCN2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3960		
MONDO:0008908	MGAT2-CDG	biolink:Disease	mondo	OMIM:212066|ICD10:E77.8|SCTID:724142005|MESH:C535752|DOID:0070253|GARD:0009828|UMLS:C2931008|Orphanet:79329	ordo_disease	CDG-IIa|carbohydrate deficient glycoprotein syndrome type IIa|carbohydrate-deficient glycoprotein syndrome, type II|CDG2A|intellectual disability, Growth retardation, prominent columella, and open mouth|CDGS2|CDG 2A|CDG IIa|congenital disorder of glycosylation, type IIa; CDG2A|congenital disorder of glycosylation type IIa|carbohydrate-deficient glycoprotein syndrome type 2|CDG syndrome type IIa|Alkuraya syndrome|congenital disorder of glycosylation type 2a|congenital disorder of glycosylation, type IIa|MGAT2-CDG (CDG-IIa)|N-acetylglucosaminyltransferase 2 deficiency|carbohydrate-deficient glycoprotein syndrome, type II, formerly|carbohydrate-deficient glycoprotein syndrome, type II, formerly; CDGS2, formerly|mental retardation, Growth retardation, prominent columella, and open mouth	http://purl.obolibrary.org/obo/MONDO_0008908	(14q21).	DOID:0070253|SNOMEDCT:724142005|http://identifiers.org/omim/212066|ORPHA:79329|MESH:C535752|UMLS:C2931008
MONDO:0008907	PMM2-CDG	biolink:Disease	mondo	MESH:C535739|ICD10:E77.8|OMIM:212065|DOID:0080552|SCTID:459063003|UMLS:C0349653|Orphanet:79318|GARD:0009826|NCIT:C126868	ordo_disease	CDG 1A|CDG syndrome type Ia|congenital disorder of glycosylation type Ia|Jaeken syndrome|congenital disorder of glycosylation, type Ia|carbohydrate-deficient glycoprotein syndrome type 1A|carbohydrate-deficient glycoprotein syndrome type 1A (formerly)|carbohydrate-deficient glycoprotein syndrome, type Ia, formerly|CDG1A|carbohydrate-deficient glycoprotein syndrome, type Ia|PMM2-CDG (CDG-Ia)|congenital disorder of glycosylation type 1a|carbohydrate deficient glycoprotein syndrome type Ia|CDG-IA|phosphomannomutase 2 deficiency|congenital disorder of glycosylation, type Ia; CDG1A	http://purl.obolibrary.org/obo/MONDO_0008907	PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.	DOID:0080552|ORPHA:79318|http://identifiers.org/omim/212065|MESH:C535739|UMLS:C0349653|SNOMEDCT:459063003|NCIT:C126868
MONDO:0008928	cataract-ataxia-deafness syndrome	biolink:Disease	mondo	UMLS:C0796123|ICD10:G11.2|OMIM:212710|MESH:C538283|Orphanet:1368|GARD:0001141	ordo_disease	Begeer syndrome|polyneuropathy-cataract-deafness syndrome|polyneuropathy, cataract, deafness syndrome|cataract ataxia deafness syndrome|cataract-ataxia-deafness-retardation syndrome|cataract ataxia deafness	http://purl.obolibrary.org/obo/MONDO_0008928	Cataract-ataxia-deafness syndrome is characterised by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive.	ORPHA:1368|http://identifiers.org/omim/212710|UMLS:C0796123|MESH:C538283
MONDO:0008927	colobomatous optic disc-macular atrophy-chorioretinopathy syndrome	biolink:Disease	mondo	MESH:C565876|ICD10:Q14.8|UMLS:CN237578|Orphanet:435930|DOID:0080635|OMIM:212550	ordo_disease	ODRMD|optic DISC anomalies with retinal and/or macular dystrophy; ODRMD|optic DISC anomalies with retinal and/or macular dystrophy	http://purl.obolibrary.org/obo/MONDO_0008927		DOID:0080635|UMLS:CN237578|MESH:C565876|ORPHA:435930|http://identifiers.org/omim/212550
MONDO:0008926	COFS syndrome	biolink:Disease	mondo	NCIT:C3817|Orphanet:1466|GARD:0006027|DC:0000076|OMIMPS:214150|UMLS:C0220722|ICD10:Q87.1	prototype_pattern|ordo_clinical_subtype|gard_rare	Pena-Shokeir syndrome type 2|cerebro-oculo-facio-skeletal syndrome|COFS|cerebrooculofacioskeletal syndrome	http://purl.obolibrary.org/obo/MONDO_0008926	Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.	ORPHA:1466|UMLS:C2931277|UMLS:C0220722|UMLS:C1859312|NCIT:C3817
MONDO:0008925	cataract 46 juvenile-onset	biolink:Disease	mondo	OMIM:212500|ICD10:Q12.0|GARD:0001150|DOID:0110243|MESH:C538286|Orphanet:98987	gard_rare	cataract 46, juvenile-onset|cataract, congenital or juvenile|LEMD2 early-onset non-syndromic cataract|cataract Hutterite type|juvenilae cataract Hutterite type|cataract, juvenile, Hutterite type|early-onset non-syndromic cataract caused by mutation in LEMD2|CTRCT46|cataract 46, juvenile-onset; CTRCT46	http://purl.obolibrary.org/obo/MONDO_0008925	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LEMD2 gene.	ORPHA:98987|DOID:0110243|http://identifiers.org/omim/212500|MESH:C538286
MONDO:0008924	congenital cataract-ichthyosis syndrome	biolink:Disease	mondo	UMLS:C1859315|GARD:0001145|OMIM:212400|MESH:C538281|Orphanet:1376	ordo_disease	Syndermotic cataract and congenital ichthyosis|cataract and congenital ichthyosis	http://purl.obolibrary.org/obo/MONDO_0008924	Congenital cataract-ichthyosis syndrome is characterized by congenital cataract associated with ichthyosis. It has been described in less than ten patients from two unrelated families. Transmission is autosomal recessive.	ORPHA:1376|http://identifiers.org/omim/212400|UMLS:C1859315|MESH:C538281
HGNC:3969	FSHR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3969		
MONDO:0008923	autosomal recessive palmoplantar keratoderma and congenital alopecia	biolink:Disease	mondo	Orphanet:1366|UMLS:C1859316|DOID:0111245|ICD10:Q82.8|MESH:C535336|GARD:0001139|ICD10:Q84.0|OMIM:212360	gard_rare|ordo_disease	autosomal recessive palmoplantar hyperkeratosis and congenital alopecia|cataract-alopecia-sclerodactyly syndrome|palmoplantar keratoderma and congenital alopecia 2; PPKCA2|PPK-CA, Wallis type|PPKCA2|palmoplantar keratoderma and congenital alopecia 2|palmoplantar keratoderma and congenital alopecia type 2|palmoplantar keratoderma and congenital alopecia, Wallis type|cataract, alopecia, sclerodactyly syndrome|Ppkca, Wallis type|cass|cataract, alopecia, sclerodactyly	http://purl.obolibrary.org/obo/MONDO_0008923	Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.	DOID:0111245|MESH:C535336|http://identifiers.org/omim/212360|UMLS:C1859316|ORPHA:1366
MONDO:0008922	Sengers syndrome	biolink:Disease	mondo	Orphanet:1369|DOID:0080132|GARD:0001142|ICD10:Q87.8|UMLS:C1859317|MESH:C538280|OMIM:212350|SCTID:717812000	gard_rare|ordo_disease	congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome|Sengers syndrome|mitochondrial DNA depletion syndrome 10|cardiomyopathy and cataract|cardiomyopathic mitochondrial DNA depletion syndrome 10|cataract and cardiomyopathy|mitochondrial DNA depletion syndrome 10 (Cardiomyopathic type)	http://purl.obolibrary.org/obo/MONDO_0008922	Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.	http://identifiers.org/omim/212350|UMLS:C1859317|SNOMEDCT:717812000|MESH:C538280|DOID:0080132|ORPHA:1369
HGNC:1304	MRAP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1304		
MONDO:0008921	carnosinemia	biolink:Disease	mondo	NCIT:C125661|ICD10:E70.8|SCTID:410052008|UMLS:C3495555|OMIM:212200|Orphanet:1361|GARD:0006001	ordo_disease	carnosinemia|Carnosinase deficiency|homocarnosinosis	http://purl.obolibrary.org/obo/MONDO_0008921	Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency.	http://identifiers.org/omim/212200|SNOMEDCT:410052008|NCIT:C125661|ORPHA:1361|UMLS:C3495555
MONDO:0008920	carnitine deficiency, myopathic	biolink:Disease	mondo	UMLS:C1859318|OMIM:212160|MESH:C536100|GARD:0006616	gard_rare	myopathic carnitine deficiency|carnitine deficiency, myopathic	http://purl.obolibrary.org/obo/MONDO_0008920		http://identifiers.org/omim/212160|UMLS:C1859318|MESH:C536100
PATO:0001025	pressure	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0001025	A physical quality that inheres in a bearer by virtue of the bearer's amount of force per unit area it exerts.	
HGNC:3976	FTH1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3976		
HGNC:3974	FTCD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3974		
MONDO:0008919	systemic primary carnitine deficiency disease	biolink:Disease	mondo	ICD10:E71.42|DOID:14365|ICD10:E71.41|NCIT:C98864|UMLS:C0342788|SCTID:21764004|ICD10:E71.3|MESH:C536778|Orphanet:158|ICD9:277.82|GARD:0005104|ICD9:277.81|OMIM:212140	ordo_disease	Carnitine plasma-membrane transporter deficiency|Carnitine uptake defect|Carnitine uptake deficiency|cud|CARNITINE deficiency, systemic primary|Carnitine deficiency|deficiency of plasma-membrane carnitine transporter|Carnitine transporter defect|carnitine uptake defect|systemic Carnitine deficiency|systemic primary carnitine deficiency|carnitine transporter deficiency|renal carnitine transport defect|primary carnitine deficiency|Carnitine transporter, plasma-Membrane, deficiency of|Carnitine deficiency, systemic, due to defect in renal reabsorption of Carnitine|CARNITINE deficiency, systemic primary; CDSP|Carnitine deficiency, primary|CDSP|Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine|SPCD	http://purl.obolibrary.org/obo/MONDO_0008919	Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.	SNOMEDCT:21764004|ORPHA:158|DOID:14365|MESH:C536778|http://identifiers.org/omim/212140|UMLS:C0342788|NCIT:C98864
MONDO:0008918	carnitine-acylcarnitine translocase deficiency	biolink:Disease	mondo	SCTID:238003000|Orphanet:159|UMLS:C0342791|NCIT:C133086|GARD:0001123|ICD10:E71.3|MESH:C562812|OMIM:212138|DOID:0111585	gard_rare|ordo_disease	CACTD|Cact deficiency|carnitine-acylcarnitine translocase deficiency|CACT deficiency|CARNITINE-acylcarnitine translocase deficiency; CACTD	http://purl.obolibrary.org/obo/MONDO_0008918	Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.	SNOMEDCT:238003000|NCIT:C133086|ORPHA:159|DOID:0111585|UMLS:C0342791|http://identifiers.org/omim/212138|MESH:C562812
HGNC:1318	C3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1318		
HGNC:1324	C4B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1324		
HGNC:1323	C4A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1323		
HGNC:1321	TIMMDC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1321		
MONDO:0008906	obsolete carbimazole sensitivity	biolink:Disease	mondo	OMIM:212060		carbimazole sensitivity	http://purl.obolibrary.org/obo/MONDO_0008906		http://identifiers.org/omim/212060
MONDO:0008905	predisposition to invasive fungal disease due to CARD9 deficiency	biolink:Disease	mondo	ICD10:D84.8|UMLS:C1859353|OMIM:212050|GARD:0001077|Orphanet:457088	ordo_disease	CANDF2|candidiasis, familial, type 2|candidiasis, familial, 2|CARD9 deficiency|CARD9 immunodeficiency|candidiasis, familial, 2; CANDF2|candidiasis, familial chronic mucocutaneous, autosomal recessive|invasive candidiasis-deep dermatophytosis syndrome|candidiasis familial chronic mucocutaneous, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0008905		http://identifiers.org/omim/212050|ORPHA:457088|UMLS:C1859353
MONDO:0008904	camptomelic syndrome, long-limb type	biolink:Disease	mondo	GARD:0001071|MESH:C537977|OMIM:211990|UMLS:C1859354	gard_rare	campomelic syndrome long limb type|campomelic syndrome, long-limb type|Camptomelic syndrome long limb type|camptomelic syndrome, long-limb type	http://purl.obolibrary.org/obo/MONDO_0008904		MESH:C537977|UMLS:C1859354|http://identifiers.org/omim/211990
MONDO:0008903	lung cancer	biolink:Disease	mondo	ICD9:162.5|ICD10:C34.3|DOID:1324|ICD9:162.4|ICD10:C34.2|ICD9:162.3|ICD10:C34.1|NCIT:C7377|SCTID:363358000|OMIM:211980|ICD9:162.9|ICD9:162.8		malignant tumor of the lung|cancer of lung|malignant neoplasm of lung|lung cancer, protection against|lung cancer|alveolar cell carcinoma|malignant neoplasm of the lung|malignant lung tumor|Nonsmall cell lung cancer|malignant lung neoplasm|lung neoplasm|malignant tumor of lung	http://purl.obolibrary.org/obo/MONDO_0008903	A malignant neoplasm involving the lung.	SNOMEDCT:363358000|NCIT:C7377|DOID:1324|http://identifiers.org/omim/211980
MONDO:0008902	camptodactyly-ichthyosis syndrome	biolink:Disease	mondo	GARD:0010134|MESH:C537976|OMIM:211965|UMLS:C1859355	gard_rare	camptodactyly ichthyosis syndrome|camptodactyly-ichthyosis syndrome	http://purl.obolibrary.org/obo/MONDO_0008902		MESH:C537976|http://identifiers.org/omim/211965|UMLS:C1859355
MONDO:0008901	Tel Hashomer camptodactyly syndrome	biolink:Disease	mondo	UMLS:C1859356|GARD:0005128|ICD10:Q74.0|Orphanet:3292|SCTID:719946008|OMIM:211960|MESH:C536953	gard_rare|ordo_malformation_syndrome	Tel Hashomer camptodactyly syndrome|camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases	http://purl.obolibrary.org/obo/MONDO_0008901	Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics.	MESH:C536953|http://identifiers.org/omim/211960|UMLS:C1859356|SNOMEDCT:719946008|ORPHA:3292
MONDO:0008900	camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia	biolink:Disease	mondo	OMIM:211930|Orphanet:1321|ICD10:Q87.2|GARD:0001064|MESH:C537974	ordo_malformation_syndrome	camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia|camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia	http://purl.obolibrary.org/obo/MONDO_0008900	Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome is an extremely rare chondrodysplastic malformation syndrome that is characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly (hammertoes) and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils, and a mild intellectual disability were also noted. Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. There have been no further descriptions in the literature since 1972.	ORPHA:1321|MESH:C537974|http://identifiers.org/omim/211930
CHEBI:46725	oxide mineral	biolink:ChemicalSubstance	mondo			oxide minerals	http://purl.obolibrary.org/obo/CHEBI_46725		
HGNC:1331	C5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1331		
HGNC:1330	MYOZ2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1330		
MONDO:0043162	pagon stephan syndrome	biolink:Disease	mondo	MESH:C538100|GARD:0004195|UMLS:C2931733	gard_rare	septo-optic dysplasia with digital anomalies	http://purl.obolibrary.org/obo/MONDO_0043162		UMLS:C2931733|MESH:C538100
MONDO:0043168	panostotic fibrous dysplasia	biolink:Disease	mondo	MESH:C537164|UMLS:C2931430|GARD:0004213	gard_rare	unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemia	http://purl.obolibrary.org/obo/MONDO_0043168		UMLS:C2931430|MESH:C537164
MONDO:0043164	palmer pagon syndrome	biolink:Disease	mondo	Orphanet:2184|UMLS:C2931734|MESH:C538107|GARD:0004199	gard_rare	hydrocephaly - low insertion umbilicus|familial hydrocephalus with a low-insertion umbilicus	http://purl.obolibrary.org/obo/MONDO_0043164		UMLS:C2931734|ORPHA:2184|MESH:C538107
MONDO:0043166	pancreatic lipomatosis duodenal stenosis	biolink:Disease	mondo	MESH:C535839|GARD:0004208|UMLS:C2931040	gard_rare	pancreatic lipomatosis and duodenal atresia	http://purl.obolibrary.org/obo/MONDO_0043166		MESH:C535839|UMLS:C2931040
NCBITaxon:1678141	Orthohepevirus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1678141		
GO:0043457	regulation of cellular respiration	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0043457	Any process that modulates the frequency, rate or extent of cellular respiration, the enzymatic release of energy from organic compounds.	
NCBITaxon:1678143	Orthohepevirus A	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1678143		
CL:0005012	multi-ciliated epithelial cell	biolink:Cell	mondo			multiciliated cell|multiciliated epithelial cell|MCC|multi-ciliated cell	http://purl.obolibrary.org/obo/CL_0005012	A ciliated epithelial cell with many cilium.	
MONDO:0043172	pfeiffer rockelein syndrome	biolink:Disease	mondo	GARD:0004306|UMLS:C2931656|MESH:C537890	gard_rare	asymmetrical coronal synostosis, cutaneous syndactyly of fingers and toes, and jejunal atresia	http://purl.obolibrary.org/obo/MONDO_0043172		MESH:C537890|UMLS:C2931656
MONDO:0018194	obsolete sex cord-stromal tumor of testis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018194		
MONDO:0018193	testicular teratoma	biolink:Disease	mondo	Orphanet:363483|ICD10:C62.9	ordo_disease	teratoma of the testis	http://purl.obolibrary.org/obo/MONDO_0018193		ORPHA:363483
MONDO:0043174	Pfeiffer Tietze Welte syndrome	biolink:Disease	mondo	GARD:0004308|UMLS:C2931657|MESH:C537891	gard_rare	sagittal craniostenosis, bilateral coloboma of the iris, craniofacial dysmorphy, asymmetrical split hand malformation, bilateral syndactyly of 2nd-4th	http://purl.obolibrary.org/obo/MONDO_0043174		MESH:C537891|UMLS:C2931657
MONDO:0018196	obsolete germ cell tumor of testis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018196		
MONDO:0018195	obsolete non-seminomatous germ cell tumor of testis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018195		
MONDO:0018190	autosomal dominant childhood-onset proximal spinal muscular atrophy	biolink:Disease	mondo	ICD10:G12.1|UMLS:CN227282|Orphanet:363447|OMIMPS:158600	ordo_disease	spinal muscular atrophy, lower extremity-predominant|SMALED|lower extremity-predominant autosomal dominant proximal spinal muscular atrophy	http://purl.obolibrary.org/obo/MONDO_0018190		UMLS:CN227282|ORPHA:363447
MONDO:0043170	Pavone Fiumara Rizzo syndrome	biolink:Disease	mondo	UMLS:C2931172|MESH:C536313|GARD:0004262	gard_rare	syndactyly type 1 with cataracts and intellectual disability|syndactyly type 1 with cataracts and mental retardation|Pavone Fiumara Rizzo syndrome	http://purl.obolibrary.org/obo/MONDO_0043170		MESH:C536313|UMLS:C2931172
MONDO:0018192	paratesticular adenocarcinoma	biolink:Disease	mondo	ICD10:C63.8|ICD10:C63.7|Orphanet:363478|ICD10:C63.2|ICD10:C63.1|ICD10:C63.0	ordo_disease	adenocarcinoma of paratestis|adenocarcinoma of the paratestis	http://purl.obolibrary.org/obo/MONDO_0018192		ORPHA:363478
MONDO:0018191	tumor of testis and paratestis	biolink:Disease	mondo	Orphanet:363472|UMLS:CN204698	ordo_group_of_disorders	testicular and paratesticular tumor	http://purl.obolibrary.org/obo/MONDO_0018191		UMLS:CN204698|ORPHA:363472
MONDO:0043179	piepkorn karp hickok syndrome	biolink:Disease	mondo	UMLS:C2931016|MESH:C535774|GARD:0004345	gard_rare	short ribs, polysyndactyly, cranial synostosis, cleft palate cardiovascular and urogenital anomalies and severe ossification defect	http://purl.obolibrary.org/obo/MONDO_0043179		MESH:C535774|UMLS:C2931016
GO:0043467	regulation of generation of precursor metabolites and energy	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0043467	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and the processes involved in the liberation of energy from these substances.	
MONDO:0043176	phosphoribosylpyrophosphate synthetase deficiency	biolink:Disease	mondo	UMLS:C1291401|SCTID:124343001|MESH:C535995|GARD:0004337|UMLS:C2931079|MESH:C537897|HGNC:9462|GARD:0001690	gard_rare	deafness hyperuricemia neurologic ataxia|PRPP synthetase deficiency	http://purl.obolibrary.org/obo/MONDO_0043176		SNOMEDCT:124343001|MESH:C537897|MESH:C535995|UMLS:C2931079|UMLS:C1291401
CL:0005026	hepatoblast	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0005026	Multi fate stem cell that gives rise to both hepatocytes and cholangiocytes as descendants.	
CL:0005020	lymphangioblast	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0005020	Lymphatic progenitor cells.	
MONDO:0018198	acute encephalopathy with biphasic seizures and late reduced diffusion	biolink:Disease	mondo	ICD10:G40.4|SCTID:766044005|Orphanet:363549	ordo_disease	AIEF|AESD|acute infantile encephalopathy predominantly affecting the frontal lobes	http://purl.obolibrary.org/obo/MONDO_0018198	Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy.	SNOMEDCT:766044005|ORPHA:363549
MONDO:0018197	mitochondrial DNA depletion syndrome, hepatocerebrorenal form	biolink:Disease	mondo	ICD10:E88.8|UMLS:CN204706|Orphanet:363534	ordo_disease	mtDNA depletion syndrome, hepatocerebrorenal form	http://purl.obolibrary.org/obo/MONDO_0018197		UMLS:CN204706|ORPHA:363534
CL:0005022	vascular lymphangioblast	biolink:Cell	mondo			parachordal lymphangioblast	http://purl.obolibrary.org/obo/CL_0005022	Lymphatic progenitor cells, derived from the veins, that give rise to lymphatic endothelial cells.	
MONDO:0018199	new-onset refractory status epilepticus	biolink:Disease	mondo	ICD10:G41.8|Orphanet:363558|GARD:0012244	ordo_disease	New onset refractory status epilepticus|Norse|De novo cryptogenic refractory multifocal febrile status epilepticus	http://purl.obolibrary.org/obo/MONDO_0018199	New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences.	ORPHA:363558
MONDO:0018183	staphylococcal necrotizing pneumonia	biolink:Disease	mondo	SCTID:763888005|Orphanet:36238|ICD10:J15.2	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018183	Staphylococcal necrotizing pneumonia is a rare, bacterial, pulmonary infectious disease, caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterized by severe respiratory failure, extensive, rapidly progressing pneumonia and hemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated.	SNOMEDCT:763888005|ORPHA:36238
MONDO:0043183	podder-tolmie syndrome	biolink:Disease	mondo	MESH:C537518|GARD:0004387|UMLS:C2931519	gard_rare	meningoencephalocele, arthrogryposis and hypoplastic thumbs	http://purl.obolibrary.org/obo/MONDO_0043183		MESH:C537518|UMLS:C2931519
MONDO:0018182	bullous impetigo	biolink:Disease	mondo	ICD10:L01.03|MedDRA:10006563|SCTID:399183005|Orphanet:36237|UMLS:C0021100|ICD10:L01.0	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018182	Bullous impetigo is a contagious superficial infection occurring in intact skin. Prevalence in the general population is unknown. The disease is characterized by fragile vesicles and flaccid blisters, most often presenting as erosive lesions covered by a yellow crust. The face, trunk and extremities of children under 5 years of age (particularly neonates) are mainly affected. The disease is generally caused by group II Staphylococcus aureus.	ORPHA:36237|UMLS:C0021100|MEDDRA:10006563|SNOMEDCT:399183005
MONDO:0043185	pointer syndrome	biolink:Disease	mondo	UMLS:C0796118|MESH:C536323|GARD:0004395	gard_rare	skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties	http://purl.obolibrary.org/obo/MONDO_0043185		MESH:C536323|UMLS:C0796118
HGNC:18294	ALG1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18294		
MONDO:0018185	congenital anomaly of the great veins	biolink:Disease	mondo	Orphanet:363189	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018185		ORPHA:363189
GO:0043470	regulation of carbohydrate catabolic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0043470	Any process that modulates the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of carbohydrates.	
MONDO:0018184	gastric linitis plastica	biolink:Disease	mondo	UMLS:CN204677|SCTID:721629005|ICD10:C16.9|Orphanet:36273	ordo_clinical_situation	linitis plastica of the stomach|Borrmann gastric cancer type 4	http://purl.obolibrary.org/obo/MONDO_0018184	Gastric linitis plastica (gastric LP) is a malignant, diffuse, infiltrative gastric adenocarcinoma.	SNOMEDCT:721629005|ORPHA:36273|UMLS:CN204677
HGNC:18292	CFC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18292		
MONDO:0018181	staphylococcal scalded skin syndrome	biolink:Disease	mondo	ICD9:695.81|DOID:9063|SCTID:200946001|ICD10:L00|NCIT:C85077|Orphanet:36236|UMLS:C0678185|COHD:132392|EFO:0007473|SCTID:277475006|MedDRA:10041929|MESH:D013206|UMLS:C0038165	ordo_disease	dermatitis exfoliativa neonatorum|Ritter disease|toxic epidermal necrolysis, subcorneal type|Ritter's disease|SSSS|generalized exfoliative disease|pemphigus neonatorum|scalded skin syndrome|staphylococcal scalded skin syndrome	http://purl.obolibrary.org/obo/MONDO_0018181	A blistering skin disorder caused by exfoliative toxins produced by Staphylococcus aureus infection. The toxins cause the formation of bullae and diffuse skin desquamation. The lesions may be localized or generalized, far away from the initial site of infection.	NCIT:C85077|SNOMEDCT:277475006|DOID:9063|ORPHA:36236|UMLS:C0678185|SNOMEDCT:200946001|MESH:D013206|UMLS:C0038165|MEDDRA:10041929
MONDO:0043181	refsum disease with increased pipecolic acidemia	biolink:Disease	mondo	UMLS:C1833022|GARD:0004371|MESH:C535517	gard_rare	RDPA	http://purl.obolibrary.org/obo/MONDO_0043181		MESH:C535517|UMLS:C1833022
MONDO:0018180	staphylococcal scarlet fever	biolink:Disease	mondo	ICD10:A38|UMLS:CN204670|Orphanet:36235	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018180		ORPHA:36235|UMLS:CN204670
GO:0006487	protein N-linked glycosylation	biolink:OntologyClass	mondo			N-glycan biosynthesis|protein amino acid N-linked glycosylation|N-glycan metabolism	http://purl.obolibrary.org/obo/GO_0006487	A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the N4 atom of peptidyl-asparagine, the omega-N of arginine, or the N1' atom peptidyl-tryptophan.	
GO:0006486	protein glycosylation	biolink:OntologyClass	mondo			protein amino acid glycosylation|protein-carbohydrate complex assembly	http://purl.obolibrary.org/obo/GO_0006486	A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins.	
MONDO:0043187	pulmonary artery agenesis	biolink:Disease	mondo	GARD:0004585|SCTID:86252004	gard_rare	agenesis of pulmonary artery|pulmonary artery agenesis|pulmonary artery absent|congenital absence of pulmonary artery	http://purl.obolibrary.org/obo/MONDO_0043187		SNOMEDCT:86252004
MONDO:0006198	endometrial squamous cell carcinoma	biolink:Disease	mondo	NCIT:C8719|DOID:5533|EFO:1000240|UMLS:C1333396		endometrium squamous cell carcinoma|squamous cell carcinoma of the endometrium|squamous cell carcinoma of endometrium|endometrial squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006198	A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells.	DOID:5533|NCIT:C8719|UMLS:C1333396
MONDO:0006199	endometrial undifferentiated carcinoma	biolink:Disease	mondo	EFO:1000242|UMLS:CN201056|NCIT:C40156		undifferentiated endometrial carcinoma|endometrial undifferentiated carcinoma	http://purl.obolibrary.org/obo/MONDO_0006199	A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation.	NCIT:C40156|UMLS:CN201056
MONDO:0006196	endometrial serous adenocarcinoma	biolink:Disease	mondo	EFO:1000238|NCIT:C27838		uterine papillary serous carcinoma|endometrial serous adenocarcinoma|uterine serous carcinoma|serous endometrial adenocarcinoma|uterine serous papillary adenocarcinoma|uterine serous adenocarcinoma|uterine corpus serous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006196	A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor.	NCIT:C27838
MONDO:0006197	endometrial small cell carcinoma	biolink:Disease	mondo	NCIT:C40155|DOID:7139|UMLS:C1516858|EFO:1000239		endometrium small cell carcinoma|endometrial small cell carcinoma|small cell carcinoma of endometrium	http://purl.obolibrary.org/obo/MONDO_0006197	A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically.	DOID:7139|NCIT:C40155|UMLS:C1516858
GO:0043473	pigmentation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0043473	The accumulation of pigment in an organism, tissue or cell, either by increased deposition or by increased number of cells.	
MONDO:0006194	obsolete endometrial mucinous adenocarcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006194	A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin.	
MONDO:0006195	endometrial polyp	biolink:Disease	mondo	NCIT:C6433|EFO:1000237		polyp, endometrial stromal, benign|endometrium polyp|endometrial polyp|polyp of the endometrium|polyp of endometrium|endometrial stromal polyp	http://purl.obolibrary.org/obo/MONDO_0006195	A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported.	NCIT:C6433
MONDO:0006192	endometrial endometrioid adenocarcinoma	biolink:Disease	mondo	ONCOTREE:UEC|UMLS:C1336905|NCIT:C6287|EFO:1000233		endometrioid adenocarcinoma of the endometrium|endometrioid adenocarcinoma of endometrium|endometrial endometrioid adenocarcinoma|endometrioid endomet. adenocar.|endometrioid endometrial adenocarcinoma|uterine corpus endometrioid carcinoma|endometrioid carcinoma of the endometrium|uterine corpus endometrioid adenocarcinoma|endometrioid carcinoma of endometrium|uterine endometrioid carcinoma	http://purl.obolibrary.org/obo/MONDO_0006192	A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma.	NCIT:C6287|UMLS:C1336905
MONDO:0006193	endometrial hyperplasia without atypia	biolink:Disease	mondo	NCIT:C40157|ICD9:621.34|SCTID:134031000119108|EFO:1000234		typical endometrial hyperplasia	http://purl.obolibrary.org/obo/MONDO_0006193	Simple or complex endometrial hyperplasia characterized by the absence of epithelial atypia.	SNOMEDCT:134031000119108|NCIT:C40157
MONDO:0006190	endolymphatic sac tumor (disease)	biolink:Disease	mondo	SCTID:699817008|EFO:1000230|GARD:0009270|ICDO:8260/1|HP:0030393|ICD9:212.0|NCIT:C67560|UMLS:C2348239		endolymphatic sac neoplasm (disease)|neoplasm of endolymphatic sac|ELST|aggressive papillary tumor of the temporal bone|endolymphatic sac neoplasm|tumor of endolymphatic sac|endolymphatic sac tumor	http://purl.obolibrary.org/obo/MONDO_0006190	An aggressive epithelial neoplasm arising from the temporal bone. It is characterized by the presence of a papillary pattern, and has been described as an adenoma or carcinoma in the literature. There is disagreement regarding its relationship to endolymphatic sac tumor.	UMLS:C2348239|NCIT:C67560|SNOMEDCT:699817008
HP:0410008	Abnormality of the peripheral nervous system	biolink:PhenotypicFeature	mondo	UMLS:C4073187		Abnormality of the peripheral nervous system	http://purl.obolibrary.org/obo/HP_0410008	Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord.	
MONDO:0006191	endometrial clear cell adenocarcinoma	biolink:Disease	mondo	EFO:1000231|DOID:5299|NCIT:C8028|UMLS:C0279765		clear cell carcinoma of endometrium|endometrial clear cell adenocarcinoma|clear cell carcinoma of the endometrium|endometrium clear cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006191	A clear cell adenocarcinoma that involves the endometrium.	DOID:5299|UMLS:C0279765|NCIT:C8028
MONDO:0018187	genetic syndromic Pierre Robin syndrome	biolink:Disease	mondo	UMLS:CN204685|Orphanet:363294	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018187		UMLS:CN204685|ORPHA:363294
MONDO:0018186	ring chromosome	biolink:Disease	mondo	ICD10:Q93.2|NCIT:C3360|MESH:D012303|Orphanet:363203	ordo_group_of_disorders	r|supernumerary circular chromosome	http://purl.obolibrary.org/obo/MONDO_0018186	Aberrant chromosomes with no ends, i.e., circular.	MESH:D012303|NCIT:C3360|ORPHA:363203
NCBITaxon:7198	Phlebotominae	organism taxon	mondo	PMID:9835021|GC_ID:1		sandflies|sand flies	http://purl.obolibrary.org/obo/NCBITaxon_7198		
NCBITaxon:7197	Psychodidae	organism taxon	mondo	GC_ID:1		sandflies and mothflies	http://purl.obolibrary.org/obo/NCBITaxon_7197		
MONDO:0018189	autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome	biolink:Disease	mondo	UMLS:CN204693|Orphanet:363429|ICD10:G11.1	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018189	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome is a rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts.	ORPHA:363429|UMLS:CN204693
MONDO:0018188	genetic intestinal polyposis	biolink:Disease	mondo	ICD10:D12.6|UMLS:C2713443|Orphanet:363314	ordo_group_of_disorders	familial intestinal polyposis	http://purl.obolibrary.org/obo/MONDO_0018188		ORPHA:363314|UMLS:C2713443
MONDO:0018172	malignant sex cord stromal tumor of ovary	biolink:Disease	mondo	ICD10:C56|UMLS:C1334609|UMLS:CN204631|NCIT:C8053|Orphanet:35808	ordo_group_of_disorders	ovarian sex cord-stromal tumor, malignant|malignant ovarian sex cord-stromal tumor|malignant ovarian SCST|malignant ovarian Sex cord-stromal tumor|malignant Sex cord-stromal tumor of the ovary|malignant Sex cord-stromal tumor of ovary|malignant ovarian Sex cord-stromal neoplasm	http://purl.obolibrary.org/obo/MONDO_0018172	Malignant sex cord stromal tumor (SCST) of ovary is a rare ovarian cancer arising from granulosa, theca, sertoli and leydig cells or stromal fibroblasts, occurring at any age and presenting with abdominal or pelvic mass, and characterized (with the exception of fibroma) by the production of sex steroids resulting in manifestations of hormone excess, with a relatively favorable prognosis.	NCIT:C8053|UMLS:CN204631|ORPHA:35808|UMLS:C1334609
MONDO:0018171	malignant germ cell tumor of ovary	biolink:Disease	mondo	ICD10:C56|UMLS:C0346180|DOID:2155|NCIT:C4514|SCTID:254869000|Orphanet:35807	ordo_group_of_disorders	malignant germ cell neoplasm of the ovary|malignant ovarian germ cell tumor|malignant germ cell neoplasm of ovary|ovary malignant germ cell tumor|malignant ovarian germ cell neoplasm|MOGCT|ovarian germ cell cancer|malignant germ cell tumor of the ovary|malignant germ cell tumor of ovary	http://purl.obolibrary.org/obo/MONDO_0018171	Malignant germ cell tumor of ovary is a rare ovarian cancer arising from germ cells in the ovary, frequently unilateral at diagnosis which characteristically presents during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen.	DOID:2155|SNOMEDCT:254869000|NCIT:C4514|UMLS:C0346180|ORPHA:35807
MONDO:0043193	richieri-costa guion-almeida cohen syndrome	biolink:Disease	mondo	GARD:0004712|UMLS:C2930979|MESH:C535676	gard_rare	overgrowth - craniosynostosis - arthrogryposis|Richieri Costa Guion-Almeida dwarfism|acrofacial dysostosis Richieri Costa Guion-Almeida type|Richieri-costa Guion-Almeida Cohen syndrome	http://purl.obolibrary.org/obo/MONDO_0043193		MESH:C535676|UMLS:C2930979
MONDO:0018174	hereditary glaucoma	biolink:Disease	mondo	Orphanet:359|GARD:0002486|UMLS:CN227278|MESH:C580055	gard_rare|ordo_group_of_disorders	glaucoma, hereditary|hereditary glaucoma (disease)	http://purl.obolibrary.org/obo/MONDO_0018174	Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities.	ORPHA:359|MESH:C580055|UMLS:CN227278
MONDO:0043195	rubinstein taybi like syndrome	biolink:Disease	mondo	MESH:C535877|GARD:0004745|UMLS:C2931052	gard_rare	Broad terminal phalanges of the thumbs and great toes, antimongoloid slant of the palpebral fissures, and characteristic beaked noses	http://purl.obolibrary.org/obo/MONDO_0043195		MESH:C535877|UMLS:C2931052
MONDO:0018173	acute opioid poisoning	biolink:Disease	mondo	Orphanet:35889|ICD10:T40.2|ICD10:T40.1|UMLS:CN227277|ICD10:T40.0	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018173	Acute opioid poisoning is a rare intoxication with opioids, a large group of alkaloid analgesics, mainly characterized by miosis (pinpoint pupil), respiratory depression (bradypnea/apnea) and central nervous system depression (sedation or coma). Other manifestations include hypotension, reduced bowel motility, hypothermia and hypoglycemia. Naloxone, a competitive inhibitor of the mu-opioid receptor, is a potent antagonist and is used as the antidote for opioid intoxication.	ORPHA:35889|UMLS:CN227277
MONDO:0018170	idiopathic nephrotic syndrome	biolink:Disease	mondo	Orphanet:357502|UMLS:C3496337|NCIT:C122796	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018170	Nephrotic syndrome for which no cause has been identified.	ORPHA:357502|UMLS:C3496337|NCIT:C122796
MONDO:0043191	radial defect robin sequence	biolink:Disease	mondo	GARD:0004624|MESH:C536261|UMLS:C2931143	gard_rare	bilateral radial defects club foot deformity micrognathia and cleft palate|Bruce Winship syndrome|bilateral radial defects, club foot deformity, micrognathia and cleft palate|Bruce winship syndrome	http://purl.obolibrary.org/obo/MONDO_0043191		MESH:C536261|UMLS:C2931143
GO:0006497	protein lipidation	biolink:OntologyClass	mondo			protein amino acid lipidation|lipid:protein modification	http://purl.obolibrary.org/obo/GO_0006497	The covalent attachment of lipid groups to an amino acid in a protein.	
MONDO:0043197	ruvalcaba churesigaew myhre syndrome	biolink:Disease	mondo	GARD:0004747|MESH:C537190|UMLS:C2931437	gard_rare	onset of senility in the early teens, atrophic skin, hypogonadism, retinal and vascular sclerosis	http://purl.obolibrary.org/obo/MONDO_0043197		MESH:C537190|UMLS:C2931437
MONDO:0043199	short limb dwarf lethal colavita kozlowski type	biolink:Disease	mondo	GARD:0004823|MESH:C537597|UMLS:C2931544	gard_rare	Colavita Kozlowski syndrome	http://purl.obolibrary.org/obo/MONDO_0043199		MESH:C537597|UMLS:C2931544
GO:0006493	protein O-linked glycosylation	biolink:OntologyClass	mondo			protein amino acid O-linked glycosylation	http://purl.obolibrary.org/obo/GO_0006493	A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of peptidyl-serine, peptidyl-threonine, peptidyl-hydroxylysine, or peptidyl-hydroxyproline, or via the phenol group of peptidyl-tyrosine, forming an O-glycan.	
GO:0043484	regulation of RNA splicing	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0043484	Any process that modulates the frequency, rate or extent of RNA splicing, the process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA.	
MONDO:0018179	obsolete bacterial toxic-shock syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018179		
MONDO:0018176	obsolete polymicrogyria	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018176		
MONDO:0018175	combined deficiency of factor V and factor VIII	biolink:Disease	mondo	UMLS:C1856883|ICD10:D68.8|DC:0000517|Orphanet:35909|SCTID:715559004	ordo_disease	familial multiple coagulation factor deficiency|F5F8D|combined deficiency of factor V and factor type VIII|FV and FVIII combined deficiency	http://purl.obolibrary.org/obo/MONDO_0018175	Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms.	UMLS:C1856883|ORPHA:35909|SNOMEDCT:715559004
MONDO:0018178	intestinal lymphangiectasia (disease)	biolink:Disease	mondo	MedDRA:10025213|GARD:0012331|ICD10:I89.0|Orphanet:36204|SCTID:197260007|ICD9:457.1|HP:0002593	ordo_group_of_disorders	intestinal lymphangiectasia	http://purl.obolibrary.org/obo/MONDO_0018178	Dilatation of the intestinal lymphatic system usually caused by an obstruction in the intestinal wall. It may be congenital or acquired and is characterized by diarrhea; hypoproteinemia; peripheral and/or abdominal edema; and protein-losing enteropathies.	SNOMEDCT:197260007|MESH:D008201|UMLS:C0024215|ORPHA:36204|MEDDRA:10025213
MONDO:0018177	glioblastoma (disease)	biolink:Disease	mondo	SCTID:393563007|MedDRA:10018337|MedDRA:10018336|HP:0100843|UMLS:C0017636|UMLS:C1621958|DOID:3068|UMLS:CN227279|ONCOTREE:GBM|ICDO:9440/3|GARD:0002491|ONCOTREE:GB|NCIT:C3058|HP:0012174|ICD10:C71.9|Orphanet:360	ordo_disease	grade IV astrocytoma|GBM|primary glioblastoma multiforme|giant cell glioblastoma (histologic variant)|gliosarcoma (histologic variant)|glioblastoma|WHO grade IV glioma|GBM (glioblastoma)|adult glioblastoma multiforme|grade IV astrocytic neoplasm|glioblastoma multiforme|grade IV astrocytic tumor|glioblastoma multiforme (disease)|grade IV adult astrocytic tumor|spongioblastoma multiforme	http://purl.obolibrary.org/obo/MONDO_0018177	The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma, IDH-mutant), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma, IDH- wildtype). (Adapted from WHO)	MEDDRA:10018336|MEDDRA:10018337|ORPHA:360|UMLS:C1621958|DOID:3068|SNOMEDCT:393563007|UMLS:C0017636|MESH:D005909|NCIT:C3058|UMLS:CN227279
GO:0006469	negative regulation of protein kinase activity	biolink:OntologyClass	mondo			down-regulation of protein kinase activity|down regulation of protein kinase activity|inhibition of protein kinase activity|downregulation of protein kinase activity	http://purl.obolibrary.org/obo/GO_0006469	Any process that stops, prevents, or reduces the frequency, rate or extent of protein kinase activity.	
GO:0006468	protein phosphorylation	biolink:OntologyClass	mondo			protein amino acid phosphorylation	http://purl.obolibrary.org/obo/GO_0006468	The process of introducing a phosphate group on to a protein.	
GO:0031424	keratinization	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0031424	The process in which the cytoplasm of the outermost cells of the vertebrate epidermis is replaced by keratin. Keratinization occurs in the stratum corneum, feathers, hair, claws, nails, hooves, and horns.	
MONDO:0043125	mcpherson robertson cammarano syndrome	biolink:Disease	mondo	UMLS:C2931751|GARD:0003431|MESH:C538161	gard_rare	dominantly inherited ptosis, strabismus and ectopic pupils	http://purl.obolibrary.org/obo/MONDO_0043125		UMLS:C2931751|MESH:C538161
MONDO:0043127	mehta lewis patton syndrome	biolink:Disease	mondo	MESH:C536147|UMLS:C2931120|GARD:0003450	gard_rare	congenital heart disease, ptosis, hypodontia, and craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0043127		MESH:C536147|UMLS:C2931120
GO:0006464	cellular protein modification process	biolink:OntologyClass	mondo			process resulting in protein modification|protein tagging activity|protein modification process	http://purl.obolibrary.org/obo/GO_0006464	The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications) occurring at the level of an individual cell. Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification).	
MONDO:0043120	male pseudohermaphroditism due to defective lh molecule	biolink:Disease	mondo	GARD:0003356|MESH:C535692|UMLS:C1835303|HGNC:6584	gard_rare		http://purl.obolibrary.org/obo/MONDO_0043120		MESH:C535692|UMLS:C1835303
MONDO:0043123	massa casaer ceulemans syndrome	biolink:Disease	mondo	UMLS:C2931090|MESH:C536031|GARD:0003407	gard_rare	arthrogryposis multiplex congenita associated with lissencephaly	http://purl.obolibrary.org/obo/MONDO_0043123		UMLS:C2931090|MESH:C536031
ECTO:1000000	exposure to environmental condition conditions	biolink:OntologyClass	mondo			environmental condition exposure	http://purl.obolibrary.org/obo/ECTO_1000000	A exposure event involving the interaction of an exposure receptor to the condition of environmental condition.	
HGNC:18276	SEC61A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18276		
HGNC:18286	RAX2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18286		
MONDO:0043135	microcephaly microphthalmos blindness	biolink:Disease	mondo	MESH:C537541|GARD:0003629|UMLS:C2931526	gard_rare		http://purl.obolibrary.org/obo/MONDO_0043135		UMLS:C2931526|MESH:C537541
MONDO:0043137	isolated microcephaly	biolink:Disease	mondo	GARD:0003630|MESH:C537542	gard_rare	nonsyndromic microcephaly|Nonsyndromal microcephaly|microcephaly, non-syndromic	http://purl.obolibrary.org/obo/MONDO_0043137		MESH:C537542
MONDO:0043131	michels caskey syndrome	biolink:Disease	mondo	MESH:C537576|GARD:0003590|UMLS:C2931537	gard_rare	Mullerian aplasia with unilateral hypoplasia of the thumbs and skeletal spine deformities|Mullerian aplasia with hypoplastic thumbs	http://purl.obolibrary.org/obo/MONDO_0043131		UMLS:C2931537|MESH:C537576
MONDO:0043133	microcephaly micropenis convulsions	biolink:Disease	mondo	MESH:C537540|GARD:0003628|UMLS:C2931525	gard_rare	microcephaly micropenis convulsions|microcephaly seizures genital hypoplasia|microcephaly micropenis seizures	http://purl.obolibrary.org/obo/MONDO_0043133		UMLS:C2931525|MESH:C537540
MONDO:0043129	merlob grunebaum reisner syndrome	biolink:Disease	mondo	GARD:0003545|MESH:C537461|UMLS:C2931499	gard_rare	familial opposable triphalangeal thumbs associated with duplication of the big toes	http://purl.obolibrary.org/obo/MONDO_0043129		MESH:C537461|UMLS:C2931499
GO:0031410	cytoplasmic vesicle	biolink:OntologyClass	mondo			cytoplasmic, membrane-bounded vesicle|cytoplasmic membrane bounded vesicle|cytoplasmic membrane-enclosed vesicle	http://purl.obolibrary.org/obo/GO_0031410	A vesicle found in the cytoplasm of a cell.	
GO:0006449	regulation of translational termination	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0006449	Any process that modulates the frequency, rate or extent of translational termination.	
MONDO:0043141	microdontia hypodontia short stature	biolink:Disease	mondo	UMLS:C2931532|MESH:C537553|GARD:0003638	gard_rare	microdontia, hypodontia, short bulbous roots and root canals with strabismus, short stature, and borderline mentality	http://purl.obolibrary.org/obo/MONDO_0043141		UMLS:C2931532|MESH:C537553
GO:0031406	carboxylic acid binding	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0031406	Interacting selectively and non-covalently with a carboxylic acid, any organic acid containing one or more carboxyl (COOH) groups or anions (COO-).	
ECTO:1000019	exposure to high pressure environment conditions	biolink:OntologyClass	mondo			high pressure environment exposure	http://purl.obolibrary.org/obo/ECTO_1000019	A exposure event involving the interaction of an exposure receptor to the condition of high pressure environment.	
GO:0006448	regulation of translational elongation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0006448	Any process that modulates the frequency, rate, extent or accuracy of translational elongation.	
GO:0031401	positive regulation of protein modification process	biolink:OntologyClass	mondo			up regulation of protein modification|stimulation of protein modification|up-regulation of protein modification|activation of protein modification|upregulation of protein modification	http://purl.obolibrary.org/obo/GO_0031401	Any process that activates or increases the frequency, rate or extent of the covalent alteration of one or more amino acid residues within a protein.	
GO:0006446	regulation of translational initiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0006446	Any process that modulates the frequency, rate or extent of translational initiation.	
MONDO:0043143	microphthalmia microtia fetal akinesia	biolink:Disease	mondo	GARD:0003650|UMLS:C2931224|Orphanet:2547|MESH:C536513	gard_rare|ordo_malformation_syndrome	fetal akinesia with characteristic facial appearance, severe microphthalmia, microtia, and truncus arteriosus|microphthalmia-microtia-fetal akinesia|Thomas-Jewett-Raines syndrome|Thomas Jewett Raines syndrome	http://purl.obolibrary.org/obo/MONDO_0043143		UMLS:C2931224|ORPHA:2547|MESH:C536513
MONDO:0043139	microcephaly sparse hair mental retardation seizures	biolink:Disease	mondo	GARD:0003633|MESH:C537545|UMLS:C2931530	gard_rare		http://purl.obolibrary.org/obo/MONDO_0043139		UMLS:C2931530|MESH:C537545
HP:0040195	Decreased head circumference	biolink:PhenotypicFeature	mondo	UMLS:C0424688|SNOMEDCT_US:271611007		Decreased head circumference	http://purl.obolibrary.org/obo/HP_0040195	An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean.	
GO:0031400	negative regulation of protein modification process	biolink:OntologyClass	mondo			downregulation of protein modification|down regulation of protein modification|inhibition of protein modification|down-regulation of protein modification	http://purl.obolibrary.org/obo/GO_0031400	Any process that stops, prevents, or reduces the frequency, rate or extent of the covalent alteration of one or more amino acid residues within a protein.	
HP:0040194	Increased head circumference	biolink:PhenotypicFeature	mondo	UMLS:C4083076		Increased head circumference	http://purl.obolibrary.org/obo/HP_0040194	An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart.	
HP:0410043	Abnormal neural tube morphology	biolink:PhenotypicFeature	mondo	Fyler:4339			http://purl.obolibrary.org/obo/HP_0410043	Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord).	
HP:0410042	Abnormal liver morphology	biolink:PhenotypicFeature	mondo	Fyler:4447			http://purl.obolibrary.org/obo/HP_0410042	Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage.	
MONDO:0043152	negative rheumatoid factor polyarthritis	biolink:Disease	mondo	GARD:0003931|UMLS:C2931825|MESH:C538347	gard_rare	rheumatoid factor-negative polyarthritis|rheumatoid factor negative erosive chronic polyarthritis|RF-ve CP	http://purl.obolibrary.org/obo/MONDO_0043152		UMLS:C2931825|MESH:C538347
ECTO:1000007	exposure to high temperature environment conditions	biolink:OntologyClass	mondo			high temperature environment exposure	http://purl.obolibrary.org/obo/ECTO_1000007	A exposure event involving the interaction of an exposure receptor to the condition of high temperature environment.	
MONDO:0043154	neonatal ovarian cyst	biolink:Disease	mondo	MESH:C536396|UMLS:C2931186|GARD:0003934	gard_rare	fetal ovarian cyst	http://purl.obolibrary.org/obo/MONDO_0043154		UMLS:C2931186|MESH:C536396
MONDO:0043156	nephrotic syndrome ocular anomalies	biolink:Disease	mondo	UMLS:C2931188|GARD:0003945|MESH:C536403	gard_rare	familial infantile nephrotic syndrome with ocular abnormalities|Glastre Cochat Bouvier syndrome	http://purl.obolibrary.org/obo/MONDO_0043156		UMLS:C2931188|MESH:C536403
MONDO:0031178	monosomy 7 myelodysplasia and leukemia syndrome	biolink:Disease	mondo	OMIMPS:252270			http://purl.obolibrary.org/obo/MONDO_0031178		
UBERON:5103631	pedal digit 1 digitopodial skeleton	biolink:AnatomicalEntity	mondo			pedal digit 1|pedal digit 1 skeleton|pedal digit I digitopodial skeleton	http://purl.obolibrary.org/obo/UBERON_5103631	A subdivision of the skeleton of the autopod consisting of the phalanges of pedal digit 1 plus the associated metapodial element.	
MONDO:0006138	cervical large cell neuroendocrine carcinoma	biolink:Disease	mondo	ONCOTREE:CENE|DOID:6659|UMLS:C1516417|EFO:1000167|NCIT:C40214		cervical large cell neuroendocrine carcinoma|cervical neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0006138	A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli.	UMLS:C1516417|NCIT:C40214|DOID:6659
MONDO:0006139	cervical metaplasia	biolink:Disease	mondo	UMLS:C0281796|EFO:1000168			http://purl.obolibrary.org/obo/MONDO_0006139	Metaplastic changes in the cervical glandular or squamous epithelium.	UMLS:C0281796|NCIT:C4056
MONDO:0008799	anophthalmia/microphthalmia-esophageal atresia syndrome	biolink:Disease	mondo	GARD:0001443|OMIM:206900|ICD10:Q87.8|SCTID:698851003|ICD9:758.5|Orphanet:77298	ordo_malformation_syndrome	anophthalmia-esophageal-genital syndrome|MCOPS3|microphthalmia, syndromic type 3|syndromic microphthalmia, type 3|syndromic microphthalmia type 3|SOX2 anophthalmia syndrome|microphthalmia, syndromic 3; MCOPS3|Aeg syndrome|microphthalmia, syndromic 3|SOX2-related eye disorders|anophthalmia clinical with associated anomalies|anophthalmia microphthalmia esophageal atresia|microphthalmia and esophageal atresia syndrome|anophthalmia esophageal genital syndrome|anophthalmia, clinical, with associated anomalies|optic nerve hypoplasia and abnormalities of the central nervous system	http://purl.obolibrary.org/obo/MONDO_0008799	Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.	ORPHA:77298|SNOMEDCT:698851003|http://identifiers.org/omim/206900
MONDO:0006136	obsolete cervical endometrioid adenocarcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006136		
MONDO:0008798	nonsyndromic congenital nail disorder 4	biolink:Disease	mondo	MESH:C536377|ICD10:Q84.3|DOID:0080082|OMIM:206800|DOID:0050643|Orphanet:94150	ordo_clinical_subtype	HYPONYCHIA congenita|nail disorder, nonsyndromic congenital, 4|anonychia/hyponychia congenita|anonychia congenita|RSPO4 isolated congenital anonychia|nail disorder, nonsyndromic congenital, type 4|NDNC4|isolated congenital anonychia caused by mutation in RSPO4|nonsyndromic congenital nail disorder type 4|anonychia congenita totalis|nail disorder, nonsyndromic congenital, 4; NDNC4|anonychia totalis	http://purl.obolibrary.org/obo/MONDO_0008798	Any isolated congenital anonychia in which the cause of the disease is a mutation in the RSPO4 gene.	ORPHA:94150|http://identifiers.org/omim/206800|DOID:0080082|MESH:C536377|DOID:0050643
MONDO:0006137	cervical intraepithelial neoplasia grade 2/3	biolink:Disease	mondo	UMLS:C2986622|EFO:1000166|NCIT:C94676		CIN 2/3	http://purl.obolibrary.org/obo/MONDO_0006137	A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia.	UMLS:C2986622|NCIT:C94676
MONDO:0008797	anodontia	biolink:Disease	mondo	ICD9:520.0|GARD:0005818|COHD:440438|ICD10:K00.0|MESH:D000848|SCTID:16958000|MedDRA:10002583|DOID:13714|OMIM:206780|Orphanet:99797	gard_rare|ordo_morphological_anomaly	complete absence of teeth|developmental absence of tooth|total anodontia of permanent and deciduous teeth|absence of permanent teeth|teeth, permanent, absence of|anodontia of permanent dentition	http://purl.obolibrary.org/obo/MONDO_0008797	Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth.	MEDDRA:10002583|http://identifiers.org/omim/206780|SNOMEDCT:16958000|ORPHA:99797|MESH:D000848|DOID:13714
MONDO:0006134	cervical adenosquamous carcinoma	biolink:Disease	mondo	EFO:1000162|NCIT:C4519|SCTID:254888007|DOID:5636|ONCOTREE:CEAS|UMLS:C0346202		cervical adenosquamous cell carcinoma|cervical adenosquamous cancer|cervical adenosquamous carcinoma|adenosquamous carcinoma of cervix|uterine cervix adenosquamous cell carcinoma|adenosquamous cell carcinoma of cervix|cervix uteri adenosquamous cell carcinoma|adenosquamous cell carcinoma of the cervix|adenosquamous cell carcinoma of cervix uteri|adenosquamous cell carcinoma of the cervix uteri|cervix adenosquamous cell carcinoma|adenosquamous cell carcinoma of uterine cervix|adenosquamous cell carcinoma of the uterine cervix	http://purl.obolibrary.org/obo/MONDO_0006134	An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells.	NCIT:C4519|UMLS:C0346202|SNOMEDCT:254888007|DOID:5636
MONDO:0006135	cervical clear cell adenocarcinoma	biolink:Disease	mondo	NCIT:C6344|UMLS:C1332912|DOID:5303|EFO:1000163|ONCOTREE:CECC		clear cell adenocarcinoma of uterine cervix|clear cell carcinoma of the cervix|clear cell adenocarcinoma of the cervix uteri|clear cell adenocarcinoma of the uterine cervix|uterine cervix clear cell adenocarcinoma|clear cell carcinoma of cervix uteri|cervix clear cell carcinoma|clear cell carcinoma of uterine cervix|clear cell carcinoma of the cervix uteri|clear cell carcinoma of the uterine cervix|cervix clear cell adenocarcinoma|cervical clear cell carcinoma|cervix uteri clear cell adenocarcinoma|clear cell adenocarcinoma of cervix|clear cell adenocarcinoma of the cervix|uterine cervix clear cell carcinoma|cervical clear cell adenocarcinoma|clear cell carcinoma of cervix|cervix uteri clear cell carcinoma|clear cell adenocarcinoma of cervix uteri	http://purl.obolibrary.org/obo/MONDO_0006135	A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES).	NCIT:C6344|DOID:5303|UMLS:C1332912
MONDO:0008796	aniridia-renal agenesis-psychomotor retardation syndrome	biolink:Disease	mondo	Orphanet:1064|MESH:C000598722|SCTID:733116005|GARD:0000690|UMLS:C1859782|ICD10:Q87.8|OMIM:206750	ordo_malformation_syndrome	aniridia renal agenesis psychomotor retardation|Sommer Rathbun Battles syndrome|Sommer-Rathbun-Battles syndrome|aniridia partial with unilateral renal agenesis and psychomotor retardation|aniridia, partial, with unilateral renal agenesis and psychomotor retardation	http://purl.obolibrary.org/obo/MONDO_0008796	Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.	http://identifiers.org/omim/206750|MESH:C000598722|SNOMEDCT:733116005|UMLS:C1859782|ORPHA:1064|MESH:C536371
MONDO:0008795	aniridia-cerebellar ataxia-intellectual disability syndrome	biolink:Disease	mondo	DOID:0111578|ICD9:759.89|OMIM:206700|Orphanet:1065|MESH:C536370|UMLS:C0431401|SCTID:253176002|ICD10:G11.0|GARD:0000013	gard_rare|ordo_malformation_syndrome	aniridia, cerebellar ataxia, and intellectual disability|Gillespie syndrome|aniridia, cerebellar ataxia, and mental retardation|GILLESPIE syndrome; GLSP|GLSP|aniridia, cerebellar ataxia and mental deficiency	http://purl.obolibrary.org/obo/MONDO_0008795	Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.	UMLS:C0431401|http://identifiers.org/omim/206700|ORPHA:1065|MESH:C536370|SNOMEDCT:253176002|DOID:0111578
MONDO:0006132	cervical adenoid basal carcinoma	biolink:Disease	mondo	ONCOTREE:CABC|EFO:1000160|NCIT:C40213|DOID:6428|UMLS:C1516403		cervical adenoid basal cancer	http://purl.obolibrary.org/obo/MONDO_0006132	A rare low grade carcinoma that arises from the cervix. It is characterized by the presence of nests of basaloid cells with focal glandular formations.	UMLS:C1516403|NCIT:C40213|DOID:6428
MONDO:0008794	anhidrosis, familial generalized, with abnormal or absent sweat glands	biolink:Disease	mondo	UMLS:C4225670|OMIM:206600		anhidrosis, familial generalized, with abnormal or absent sweat glands	http://purl.obolibrary.org/obo/MONDO_0008794		http://identifiers.org/omim/206600|UMLS:C4225670
MONDO:0006133	cervical adenoid cystic carcinoma	biolink:Disease	mondo	EFO:1000161|ONCOTREE:CACC|DOID:4867|NCIT:C6346|UMLS:C1332911		uterine cervix adenoid cystic carcinoma|cervix uteri adenoid cystic carcinoma|adenoid cystic carcinoma of cervix|adenoid cystic carcinoma of the cervix uteri|adenoid cystic carcinoma of the cervix|cervix adenoid cystic carcinoma|adenoid cystic carcinoma of cervix uteri|adenoid cystic carcinoma of uterine cervix|adenoid cystic carcinoma of the uterine cervix|cervical adenoid cystic cancer|cervical adenoid cystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0006133	A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present.	NCIT:C6346|UMLS:C1332911|DOID:4867
MONDO:0008793	angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert	biolink:Disease	mondo	OMIM:206570|GARD:0008587|UMLS:C1859783|MESH:C536367	gard_rare	Divry-Van Bogaert syndrome|Corticomeningeal angiomatosis, myelination of the white substance of the centrum ovale, hemianopsia and marbled skin|angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert	http://purl.obolibrary.org/obo/MONDO_0008793		http://identifiers.org/omim/206570|UMLS:C1859783|MESH:C536367
MONDO:0006130	central nervous system neoplasm	biolink:Disease	mondo	EFO:1000158|NCIT:C9293		central nervous system neoplasm (disease)|tumor of the CNS|neoplasm of central nervous system|tumor of CNS|central nervous system tumor|central nervous system neoplasm|CNS neoplasm|tumor of the central nervous system|tumor of central nervous system|neoplasm of CNS|brain/spinal cord tumor|neoplasm of the central nervous system|CNS tumor	http://purl.obolibrary.org/obo/MONDO_0006130	A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia.	NCIT:C9293
MONDO:0006131	cerebellar liponeurocytoma	biolink:Disease	mondo	ONCOTREE:CLNC|ICDO:0000/0|Orphanet:251931|UMLS:C1370507|EFO:1000159|GARD:0010642|SCTID:716592003|DOID:6458|NCIT:C6905	gard_rare|ordo_disease	cerebellar liponeurocytoma (WHO grade II)|cerebellar liponeurocytoma|lipomatous medulloblastoma (formerly)|lipomatous medulloblastoma|CLNC	http://purl.obolibrary.org/obo/MONDO_0006131	A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO)	NCIT:C6905|UMLS:C1370507|ORPHA:251931|DOID:6458|SNOMEDCT:716592003
MONDO:0008792	familial angiolipomatosis	biolink:Disease	mondo	ICD10:D17.9|UMLS:C1859784|MESH:C565951|Orphanet:199279|OMIM:206550	ordo_disease	angiolipomatosis, familial|angiolipoma Microthromboticum	http://purl.obolibrary.org/obo/MONDO_0008792	Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously.	http://identifiers.org/omim/206550|UMLS:C1859784|MESH:C565951|ORPHA:199279
MONDO:0008791	isolated anencephaly/exencephaly	biolink:Disease	mondo	OMIM:206500|ICD10:Q00.0|SCTID:89369001|GARD:0005808|Orphanet:1048|ICD9:740.0	ordo_morphological_anomaly	absence of a large part of the brain and the skull|anencephaly|anencephaly; ANPH|ANPH	http://purl.obolibrary.org/obo/MONDO_0008791	Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.	http://identifiers.org/omim/206500|SNOMEDCT:89369001|ORPHA:1048
MONDO:0008790	anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism	biolink:Disease	mondo	MESH:C565952|UMLS:C1859785|OMIM:206400		anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism	http://purl.obolibrary.org/obo/MONDO_0008790		http://identifiers.org/omim/206400|UMLS:C1859785|MESH:C565952
FOODON:00002044	mollusc food product	biolink:OntologyClass	mondo			mollusk food product	http://purl.obolibrary.org/obo/FOODON_00002044		
MONDO:0018129	autosomal recessive cerebellar ataxia with late-onset spasticity	biolink:Disease	mondo	UMLS:CN204507|ICD10:G11.8|SCTID:763348005|Orphanet:352641	ordo_disease	autosomal recessive cerebellar ataxia due to GBA2 deficiency	http://purl.obolibrary.org/obo/MONDO_0018129	Autosomal recessive cerebellar ataxia with late-onset spasticity is a rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated.	UMLS:CN204507|ORPHA:352641|SNOMEDCT:763348005
MONDO:0018128	phalangeal microgeodic syndrome	biolink:Disease	mondo	Orphanet:352636|UMLS:CN204506|ICD10:M89.5	ordo_disease	phalangeal osteolysis	http://purl.obolibrary.org/obo/MONDO_0018128	Phalangeal microgeodic syndrome is a rare primary osteolysis characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure.	UMLS:CN204506|ORPHA:352636
MONDO:0018125	focal epilepsy-intellectual disability-cerebro-cerebellar malformation	biolink:Disease	mondo	UMLS:CN204502|Orphanet:352587|ICD10:Q04.8	ordo_disease	focal epilepsy-intellectual disability-dysarthria-ataxia syndrome	http://purl.obolibrary.org/obo/MONDO_0018125	Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistance into adult life is observed.	UMLS:CN204502|ORPHA:352587
MONDO:0018124	Oncogenic osteomalacia	biolink:Disease	mondo	SCTID:392559009|MESH:C537751|ICD10:M83.8|GARD:0009652|UMLS:C1274103|NCIT:C67235|Orphanet:352540	gard_rare|ordo_disease	Oncogenic hypophosphatemic osteomalacia|TIO|tumor-induced osteomalacia|OO|OOM	http://purl.obolibrary.org/obo/MONDO_0018124	Oncogenic osteomalacia is characterized by the development of a tumor that causes the bones to be weakened. This occurs when a tumor secretes a substance called fibroblast growth factor 23 (FGF23). FGF23 inhibits the ability of the kidneys to absorb phosphate. Phosphate is important for keeping bones strong and healthy. Therefore, this disease is characterized by a softening and weakening of the bones (osteomalacia). The disease also results in multiple biochemical abnormalities including high levels of phosphate in the urine (hyperphosphaturia) and low levels of phosphate in the blood (hypophosphatemia). The majority of tumors that cause oncogenic osteomalacia are small and slow-growing. These tumors most commonly occur in the skin, muscles, or bones of the extremities or in the paranasal sinuses around the head. Most of these tumors are benign, meaning they are not associated with cancer. The exact reason that the tumors associated with oncogenic osteomalacia develop is not known. The disease is diagnosed when a person experiences clinical features such as bone weakening and hyperphosphaturia and a tumor is found by imaging of the body. Treatment of the disease consists of surgical removal of the tumor. The symptoms of the disease, including the weakening of the bones, typically resolve once the tumor is removed.	SNOMEDCT:392559009|UMLS:C1274103|NCIT:C67235|ORPHA:352540|MESH:C537751
MONDO:0018127	16q24.1 microdeletion syndrome	biolink:Disease	mondo	Orphanet:352629|ICD10:Q93.5|UMLS:CN204505	ordo_disease	Del(16)(q24.1)|monosomy 16q24.1	http://purl.obolibrary.org/obo/MONDO_0018127	16q24.1 microdeletion syndrome is a partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects).	UMLS:CN204505|ORPHA:352629
MONDO:0018126	progressive myoclonic epilepsy with dystonia	biolink:Disease	mondo	ICD10:G40.3|Orphanet:352596|SCTID:763349002	ordo_disease	PMED|progressive myoclonus epilepsy with dystonia	http://purl.obolibrary.org/obo/MONDO_0018126	Progressive myoclonic epilepsy with dystonia is a rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli.	ORPHA:352596|SNOMEDCT:763349002
MONDO:0018121	mitochondrial DNA maintenance syndrome	biolink:Disease	mondo	UMLS:CN204491|Orphanet:352456	ordo_group_of_disorders	mtDNA maintenance syndrome|inborn error of mitochondrial genome maintenance|rare inborn error of mitochondrial genome maintenance|inborn mitochondrial genome maintenance disorder|rare inborn error of mitochondrial genome maintenance	http://purl.obolibrary.org/obo/MONDO_0018121	An acquired metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance.	UMLS:CN204491|ORPHA:352456
HGNC:18234	MOCOS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18234		
HP:0003187	Breast hypoplasia	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:8915006|UMLS:C0266013		Underdeveloped breasts	http://purl.obolibrary.org/obo/HP_0003187	Underdevelopment of the breast.	
MONDO:0018120	disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement	biolink:Disease	mondo	Orphanet:352312|UMLS:CN227267	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018120		ORPHA:352312|UMLS:CN227267
MONDO:0018123	intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	biolink:Disease	mondo	UMLS:CN204496|ICD10:Q04.8|Orphanet:352530	ordo_disease	autosomal recessive intellectual disability due to TRAPPC9 deficiency	http://purl.obolibrary.org/obo/MONDO_0018123	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.	UMLS:CN204496|ORPHA:352530
UBERON:5103625	manual digit 5 digitopodial skeleton	biolink:AnatomicalEntity	mondo			manual digit V digitopodial skeleton|manual digit 5|manual digit 5 skeleton	http://purl.obolibrary.org/obo/UBERON_5103625	A subdivision of the skeleton of the autopod consisting of the phalanges of manual digit 5 plus the associated metapodial element.	
MONDO:0018122	digital anomalies-intellectual disability-short stature syndrome	biolink:Disease	mondo	UMLS:CN204494|ICD10:Q87.2|Orphanet:352487	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018122		UMLS:CN204494|ORPHA:352487
HGNC:18233	BANK1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18233		
MONDO:0021761	acral dysostosis dyserythropoiesis syndrome	biolink:Disease	mondo	GARD:0000478	gard_rare		http://purl.obolibrary.org/obo/MONDO_0021761	An erythrocytic disorder that is characterized by macrocytosis and megaloblastic changes of the bone marrow cells, with additional morphological defects of hands and feet.	
MONDO:0021762	acrocoxomesomelic dysplasia	biolink:Disease	mondo	GARD:0000483	gard_rare	acro-coxo-mesomelic dwarfism	http://purl.obolibrary.org/obo/MONDO_0021762	A severe, dysmorphic condition is characterized by shortening of median and distal segments of the limbs without anomalies of the spine.	
MONDO:0021764	acrofacial dysostosis preis type	biolink:Disease	mondo	GARD:0000495	gard_rare|n_of_one		http://purl.obolibrary.org/obo/MONDO_0021764	Acrofacial dysostosis with pre-and postaxial involvement; a postaxial defect of the right, and a preaxial defect of the left hand.	
MONDO:0006149	clear cell papillary cystadenoma	biolink:Disease	mondo	EFO:1000181|UMLS:C1880102|ICDO:8443/0|NCIT:C65203		clear cell papillary cystadenoma	http://purl.obolibrary.org/obo/MONDO_0006149	A benign cystic glandular epithelial neoplasm characterized by the presence of neoplastic clear or hobnail cells which form papillary structures. There is no evidence of stromal invasion.	UMLS:C1880102|NCIT:C65203
MONDO:0021765	radiculitis	biolink:Disease	mondo	UMLS:C0034544|SCTID:82473003|ICD9:729.2|NCIT:C78581		Nerve Root Inflammations|Inflammation, Nerve Root|Radiculitides|Nerve Root Inflammation|Radiculitis|radiculitis	http://purl.obolibrary.org/obo/MONDO_0021765	An inflammatory process affecting a nerve root. Patients experience pain radiating along a nerve path because of spinal pressure on the nerve root that connects to the nerve path.	SNOMEDCT:82473003|NCIT:C78581|UMLS:C0034544
MONDO:0006147	chronic eosinophilic leukemia, not otherwise specified	biolink:Disease	mondo	NCIT:C4563|ONCOTREE:CELNOS|ICDO:9964/3|EFO:1000178		chronic eosinophilic leukemia, not otherwise specified|CEL|chronic eosinophilic leukemia|chronic eosinophilic leukemia/hypereosinophilic syndrome|CELNOS|eosinophilic leukemia|chronic eosinophilic leukemia, NOS|CEL/hypereosinophilic syndrome	http://purl.obolibrary.org/obo/MONDO_0006147	A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. Since acute eosinophilic leukemia is at best exceedingly rare, the term eosinophilic leukemia is normally used as a synonym for chronic eosinophilic leukemia. In cases in which it is impossible to prove clonality and there is no increase in blast cells, the diagnosis of "idiopathic hypereosinophilic syndrome" is preferred. (WHO, 2001)	NCIT:C4563
MONDO:0006148	obsolete chronic neutrophilic leukemia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006148		
MONDO:0006145	chondroid chordoma	biolink:Disease	mondo	UMLS:C1266173|DOID:4152|NCIT:C6902|ICDO:9371/3|EFO:1000174		chondroid chordoma (morphologic abnormality)|chondroid chordoma	http://purl.obolibrary.org/obo/MONDO_0006145	A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. The tumor is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells and cartilage.	NCIT:C6902|UMLS:C1266173|DOID:4152
MONDO:0006146	chondroid hamartoma	biolink:Disease	mondo	UMLS:C1707390|EFO:1000175|NCIT:C42589			http://purl.obolibrary.org/obo/MONDO_0006146	A hamartoma that is characterized by the presence of chondroid elements.	NCIT:C42589|UMLS:C1707390
MONDO:0006143	cervical squamous cell carcinoma	biolink:Disease	mondo	SCTID:254886006|ICD10:C53.0|ICD10:C53.1|UMLS:C0279671|DOID:3744|Orphanet:213767|NCIT:C4028|ONCOTREE:CESC|ICD10:C53.8|EFO:1000172	ordo_disease	CESC|squamous cell carcinoma of cervix uteri|squamous cell carcinoma of the cervix uteri|squamous cell carcinoma of uterine cervix|squamous cell carcinoma of the uterine cervix|cervical squamous cell carcinoma, not otherwise specified|squamous cervical cancer|uterine cervix squamous cell carcinoma|cervical squamous cell cancer|cervix squamous cell carcinoma|cervical squamous cell carcinoma, NOS|cervical squamous cell carcinoma|cervix uteri squamous cell carcinoma|squamous cell carcinoma of cervix|squamous cell carcinoma of the cervix	http://purl.obolibrary.org/obo/MONDO_0006143	A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis.	NCIT:C4028|UMLS:C0279671|ORPHA:213767|DOID:3744|SNOMEDCT:254886006
MONDO:0006144	cervical Wilms tumor	biolink:Disease	mondo	DOID:5190|UMLS:C1516437|EFO:1000173|NCIT:C40236		cervical Wilms' tumor|cervical Wilms tumor	http://purl.obolibrary.org/obo/MONDO_0006144	An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney.	UMLS:C1516437|NCIT:C40236|DOID:5190
MONDO:0006141	cervical villoglandular adenocarcinoma	biolink:Disease	mondo	EFO:1000170|UMLS:C4289808|NCIT:C40208|ONCOTREE:VGCE|DOID:8338		villoglandular variant cervical mucinous adenocarcinoma|cervical villoglandular adenocarcinoma|cervical adenocarcinoma, villoglandular variant|villoglandular adenocarcinoma of the cervix|cervical villoglandular carcinoma	http://purl.obolibrary.org/obo/MONDO_0006141	A cervical adenocarcinoma characterized by the presence of a prominent villoglandular pattern.	DOID:8338|UMLS:C4289808|NCIT:C40208
MONDO:0006142	cervical small cell carcinoma	biolink:Disease	mondo	UMLS:C0279674|NCIT:C7982|ONCOTREE:SCCE|DOID:6740|EFO:1000171		cervix small cell carcinoma|small cell carcinoma of cervix|cervix uteri small cell carcinoma|small cell carcinoma of cervix uteri|small cell carcinoma of uterine cervix|small cell carcinoma of the uterine cervix|small cell carcinoma of the cervix|uterine cervix small cell carcinoma|Cervical small cell cancer|cervical small cell carcinoma|small cell carcinoma of the cervix uteri|SCCE	http://purl.obolibrary.org/obo/MONDO_0006142	A small cell carcinoma arising from the cervix.	DOID:6740|UMLS:C0279674|NCIT:C7982
MONDO:0006140	cervical mucinous adenocarcinoma, minimal deviation variant	biolink:Disease	mondo	UMLS:C1516423|DOID:6627|EFO:1000169|NCIT:C40206		cervical mucinous adenocarcinoma, minimal deviation variant|cervical mucinous adenocarcinoma, minimal deviation type|cervical adenoma malignum	http://purl.obolibrary.org/obo/MONDO_0006140	A rare, extremely well differentiated cervical mucinous adenocarcinoma in which most of the neoplastic glands cannot be distinguished from the normal endocervical glands.	UMLS:C1516423|NCIT:C40206|DOID:6627
HGNC:33862	GRXCR2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/33862		
MONDO:0018118	disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement	biolink:Disease	mondo	UMLS:CN227265|Orphanet:352306	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018118		ORPHA:352306|UMLS:CN227265
MONDO:0018117	disorder of phospholipids, sphingolipids and fatty acids biosynthesis	biolink:Disease	mondo	UMLS:CN227264|Orphanet:352301	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018117		ORPHA:352301|UMLS:CN227264
MONDO:0018119	disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement	biolink:Disease	mondo	UMLS:CN227266|Orphanet:352309	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018119		ORPHA:352309|UMLS:CN227266
HGNC:33867	SDHAF1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/33867		
MONDO:0018114	isolated brachycephaly	biolink:Disease	mondo	ICD10:Q75.0|Orphanet:35099	ordo_morphological_anomaly	non-syndromic bicoronal synostosis	http://purl.obolibrary.org/obo/MONDO_0018114	Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges.	ORPHA:35099
HGNC:18249	KCTD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18249		
MONDO:0018113	isolated plagiocephaly	biolink:Disease	mondo	ICD10:Q67.3|Orphanet:35098	ordo_morphological_anomaly	non-syndromic unicoronal synostosis|synostotic plagiocephaly	http://purl.obolibrary.org/obo/MONDO_0018113	Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry.	ORPHA:35098
UBERON:5103635	pedal digit 5 digitopodial skeleton	biolink:AnatomicalEntity	mondo			pedal digit 5 skeleton|pedal digit V digitopodial skeleton|pedal digit 5	http://purl.obolibrary.org/obo/UBERON_5103635	A subdivision of the skeleton of the autopod consisting of the phalanges of pedal digit 5 plus the associated metapodial element.	
MONDO:0018116	galactosemia	biolink:Disease	mondo	ICD9:271.1|COHD:439788|UMLS:C0016952|NCIT:C84723|MESH:D005693|Orphanet:352|DOID:9870|OMIMPS:230400|MedDRA:10017604|GARD:0002424|ICD10:E74.2|ICD10:E74.21|SCTID:190745006	ordo_group_of_disorders	galactosemia|galactosaemia|galactose intolerance	http://purl.obolibrary.org/obo/MONDO_0018116	Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form.	MEDDRA:10017604|MESH:D005693|DOID:9870|NCIT:C84723|UMLS:C0016952|ORPHA:352|SNOMEDCT:190745006
MONDO:0018115	epidermal nevus syndrome	biolink:Disease	mondo	SCTID:239112008|Orphanet:35125|MedDRA:10014985|ICD10:Q85.8	ordo_disease	Epidermal hamartoma syndrome	http://purl.obolibrary.org/obo/MONDO_0018115	A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities.	ORPHA:35125|UMLS:C0334082|MEDDRA:10014985|SNOMEDCT:239112008|MESH:D054000|MESH:C536114
MONDO:0021758	acquired agranulocytosis	biolink:Disease	mondo	GARD:0005717|MESH:C538171|SCTID:72050006	gard_rare	granulocytopenia, primary|neutropenia, malignant|agranulocytosis, acquired|agranulocytic angina	http://purl.obolibrary.org/obo/MONDO_0021758	Agranulocytosis that is autoimmune in origin.	SNOMEDCT:72050006|MESH:C538171
HGNC:18248	ELP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18248		
MONDO:0018110	lethal idiopathic viral infection	biolink:Disease	mondo	UMLS:CN776879|Orphanet:35064	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018110		ORPHA:35064|UMLS:CN776879
MONDO:0021759	acquired fructose intolerance	biolink:Disease	mondo	SCTID:413427002|GARD:0002399	gard_rare	fructose malabsorption|dietary fructose intolerance|intestinal fructose intolerance|acquired fructose intolerance	http://purl.obolibrary.org/obo/MONDO_0021759	Acquired fructose intolerance is a condition in which the body can not properly absorb the sugar, fructose. As a result, affected people may experience gastrointestinal symptoms, such as gas, abdominal pain, bloating and/or diarrhea, depending on the quantity of fructose consumed and the presence of other sugars ingested with it. Gastrointestinal symptoms related to acquired fructose intolerance appear to be more common in people who have an underlying functional bowel disorder such as irritable bowel syndrome. The underlying cause of the condition is poorly understood. It is distinct from the rare, genetic form of fructose intolerance (called hereditary fructose intolerance), which usually develops earlier in life and often affects more than one family member. Acquired fructose intolerance is generally managed with dietary modifications.	SNOMEDCT:413427002
HP:0003198	Myopathy	biolink:PhenotypicFeature	mondo	UMLS:C0026848|SNOMEDCT_US:129565002|MSH:D009135		Muscle tissue disease|Myopathic changes	http://purl.obolibrary.org/obo/HP_0003198	A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.	
MONDO:0018112	isolated scaphocephaly	biolink:Disease	mondo	ICD10:Q75.0|Orphanet:35093	ordo_morphological_anomaly	isolated dolichocephaly|non-syndromic sagittal synostosis	http://purl.obolibrary.org/obo/MONDO_0018112	Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture.	ORPHA:35093
HGNC:18243	RCBTB1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18243		
MONDO:0018111	idiopathic severe pneumococcemia	biolink:Disease	mondo	Orphanet:35065|ICD10:A40.3	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018111		ORPHA:35065
HGNC:21862	DYNC2I1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21862		
MONDO:0021750	pyonephrosis	biolink:Disease	mondo	NCIT:C123032|SCTID:48631008|MESH:D053018|UMLS:C0034216		pyonephrosis|Pyonephrosis|Infected Hydronephrosis|Hydronephrosis, Infected	http://purl.obolibrary.org/obo/MONDO_0021750	Pus within the collecting system of the kidney.	SNOMEDCT:48631008|MESH:D053018|UMLS:C0034216|NCIT:C123032
MONDO:0006118	breast fibrosis	biolink:Disease	mondo	EFO:1000145|NCIT:C3660|COHD:75311|UMLS:C0156318|ICD9:610.3|DOID:10353|SCTID:29070004|ICD10:N60.3		breast fibrosis|fibrosclerosis of the breast|fibrosclerosis of breast|breast fibrosclerosis|fibrosis of the breast|fibrosis of breast	http://purl.obolibrary.org/obo/MONDO_0006118	Breast fibrocystic change characterized by the prominence of fibrotic changes in the parenchyma.	UMLS:C0156318|SNOMEDCT:29070004|DOID:10353|NCIT:C3660
MONDO:0006119	breast mucosa-associated lymphoid tissue lymphoma	biolink:Disease	mondo	EFO:1000146|UMLS:C1332633|NCIT:C35688		breast mucosa-associated lymphoid tissue lymphoma|breast MALT lymphoma	http://purl.obolibrary.org/obo/MONDO_0006119	An extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue that arises from the breast as a primary tumor.	NCIT:C35688|UMLS:C1332633
MONDO:0021752	Achard-Thiers syndrome	biolink:Disease	mondo	GARD:0005709|SCTID:34041001|MESH:C536013|UMLS:C0271732	gard_rare	diabetes in bearded women|diabetic-bearded woman syndrome|Achard Thiers syndrome	http://purl.obolibrary.org/obo/MONDO_0021752	Achard–Thiers syndrome combines the features of adrenogenital syndrome and Cushing syndrome. It occurs mainly in post-menopausal women	UMLS:C0271732|MESH:C536013|SNOMEDCT:34041001
HGNC:21863	RBM28	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21863		
MONDO:0008779	arthrogryposis	biolink:Disease	mondo	NCIT:C84572|MESH:D001176|UMLS:C0003886|EFO:0003857		Arthrogryposes, congenital multiple|congenital multiple Arthrogryposes|congenital multiple arthrogryposis	http://purl.obolibrary.org/obo/MONDO_0008779	A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth.	NCIT:C84572|UMLS:C0003886|MESH:D001176
MONDO:0006116	breast carcinoma by gene expression profile	biolink:Disease	mondo	EFO:1000143|NCIT:C53553|UMLS:C3642344		breast carcinoma by gene expression profile	http://purl.obolibrary.org/obo/MONDO_0006116	A header term that includes the following breast carcinoma subtypes determined by gene expression profiling: luminal A breast carcinoma, luminal B breast carcinoma, HER2 positive breast carcinoma, basal-like breast carcinoma, triple-negative breast carcinoma, and normal breast-like subtype of breast carcinoma.	UMLS:C3642344|NCIT:C53553
MONDO:0006117	breast diffuse large B-cell lymphoma	biolink:Disease	mondo	EFO:1000144|UMLS:C1511306|NCIT:C40375		diffuse large B-cell lymphoma of breast|breast DLBCL|breast diffuse large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0006117	A diffuse large B-cell lymphoma that arises from the breast. It is the most common type of primary breast lymphoma.	UMLS:C1511306|NCIT:C40375
MONDO:0008778	amyloidosis, cutaneous bullous	biolink:Disease	mondo	ICD9:277.39|SCTID:38606009|MESH:C562644|OMIM:204900|UMLS:C0268399		amyloidosis, cutaneous bullous	http://purl.obolibrary.org/obo/MONDO_0008778		SNOMEDCT:38606009|MESH:C562644|UMLS:C0268399|http://identifiers.org/omim/204900
MONDO:0008777	gelatinous drop-like corneal dystrophy	biolink:Disease	mondo	Orphanet:98957|GARD:0009647|OMIM:204870|DOID:0060449|ICD10:H18.5|NCIT:C142805|MESH:C535480|UMLS:C0339273	gard_rare|ordo_disease	primary familial amyloidosis of the cornea|subepithelial amyloidosis of the cornea|lattice corneal dystrophy type 3|amyloidosis corneal|corneal dystrophy, gelatinous drop-like; GDLD|amyloid corneal dystrophy, Japanese type|Cdgdl|lattice corneal dystrophy, type 3|corneal dystrophy, lattice type 3|corneal dystrophy, gelatinous drop-like|amyloidosis, corneal|CDGDL|corneal amyloidosis|GDCD|gelatinous drop-like corneal dystrophy|GDLD	http://purl.obolibrary.org/obo/MONDO_0008777	Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment.	ORPHA:98957|MESH:C535480|DOID:0060449|NCIT:C142805|http://identifiers.org/omim/204870|UMLS:C0339273
MONDO:0043103	hypothyroidism due to iodide transport defect	biolink:Disease	mondo	SCTID:22558005|NCIT:C121747|GARD:0002938|UMLS:C0271826	gard_rare	iodine transport defect|hypothyroidism due to iodide transport defect|iodide transport defect|iodide Transport defect|iodide transport failure|iodine accumulation defect|hypothyroidism due to iodide concentration defect	http://purl.obolibrary.org/obo/MONDO_0043103	A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition.	UMLS:C0271826|NCIT:C121747|SNOMEDCT:22558005
MONDO:0006114	obsolete bladder squamous cell carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006114		
MONDO:0008776	amyloidosis of gingiva and conjunctiva, with mental retardation	biolink:Disease	mondo	OMIM:204850|MESH:C565958|GARD:0000657|UMLS:C1859815	gard_rare	amyloidosis of gingiva and conjunctiva with mental retardation|Hornova Dlushosova syndrome|amyloidosis of gingiva and conjunctiva with intellectual disability|amyloidosis of gingiva and conjunctiva, with mental retardation|amyloidosis of gingiva and conjunctiva, with intellectual disability	http://purl.obolibrary.org/obo/MONDO_0008776		MESH:C565958|UMLS:C1859815|http://identifiers.org/omim/204850
MONDO:0006115	blast phase chronic myelogenous leukemia, BCR-ABL1 positive	biolink:Disease	mondo	EFO:1000131|NCIT:C9110|SCTID:413656006|MESH:D001752|UMLS:C0005699		crises, blast|phases, blast|blast phase chronic myelogenous leukemia|blast phase chronic myelocytic leukemia|blast crisis|blastic phase chronic granulocytic leukemia|phase, blast|blastic phase chronic myelocytic leukemia|blastic phase chronic myeloid leukemia|blast phase CML|blast phase|blastic phase chronic myelogenous leukemia|crisis, blast|blast phases|blast phase chronic granulocytic leukemia|blast crises|blast phase chronic myeloid leukemia|blastic phase CML	http://purl.obolibrary.org/obo/MONDO_0006115	An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001).	UMLS:C0005699|SNOMEDCT:413656006|NCIT:C9110|MESH:D001752
OBO:cl#has_completed	has_completed	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/cl#has_completed		
MONDO:0006112	bladder inflammatory myofibroblastic tumor	biolink:Disease	mondo	ONCOTREE:IMTB|NCIT:C6177|UMLS:C1336891|EFO:1000127		inflammatory myofibroblastic neoplasm of the urinary bladder|bladder inflammatory myofibroblastic tumor|inflammatory myofibroblastic neoplasm of urinary bladder|inflammatory myofibroblastic tumor of the urinary bladder|inflammatory myofibroblastic tumor of urinary bladder|urinary bladder inflammatory myofibroblastic neoplasm|inflammatory myofibroblastic neoplasm of the bladder|inflammatory myofibroblastic neoplasm of bladder|inflammatory myofibroblastic tumor of the bladder|inflammatory myofibroblastic tumor of bladder|bladder inflammatory myofibroblastic neoplasm|inflammatory myofibroblastic bladder tumor|urinary bladder inflammatory myofibroblastic tumor	http://purl.obolibrary.org/obo/MONDO_0006112	A multinodular intermediate fibroblastic neoplasm arising from the bladder. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.	NCIT:C6177|UMLS:C1336891
HGNC:33848	COA5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/33848		
MONDO:0008775	Amobarbital, deficient N-hydroxylation of	biolink:Disease	mondo	MESH:C565959|UMLS:C1859816|OMIM:204800		Amobarbital, deficient N-hydroxylation of	http://purl.obolibrary.org/obo/MONDO_0008775		MESH:C565959|UMLS:C1859816|http://identifiers.org/omim/204800
MONDO:0008774	2-aminoadipic 2-oxoadipic aciduria	biolink:Disease	mondo	DOID:0111453|OMIM:204750|Orphanet:79154|ICD10:E72.3	ordo_disease	AMOXAD|Alpha-aminoadipic aciduria|2-aminoadipic 2-oxoadipic aciduria|2-aminoadipic 2-oxoadipic aciduria; AMOXAD	http://purl.obolibrary.org/obo/MONDO_0008774		ORPHA:79154|http://identifiers.org/omim/204750|DOID:0111453
MONDO:0006113	obsolete bladder small cell neuroendocrine carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006113		
MONDO:0006110	obsolete bladder adenocarcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006110		
MONDO:0008773	amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis	biolink:Disease	mondo	UMLS:C1859818|GARD:0000763|OMIM:204730|MESH:C565960	gard_rare	amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis|amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis	http://purl.obolibrary.org/obo/MONDO_0008773		MESH:C565960|UMLS:C1859818|http://identifiers.org/omim/204730
MONDO:0008772	amelogenesis imperfecta type 2A1	biolink:Disease	mondo	MESH:C567146|DOID:0110057|MESH:C538242|ICD10:K00.5|OMIM:204700|GARD:0009495	gard_rare	amelogenesis imperfecta pigmented hypomaturation type|AI2A1|amelogenesis imperfecta, pigmented hypomaturation type, 1|amelogenesis imperfecta caused by mutation in KLK4|amelogenesis imperfecta, hypomaturation type, IIA1|amelogenesis imperfecta type IIA1|amelogenesis imperfecta, hypomaturation type, IIA1; AI2A1|KLK4 amelogenesis imperfecta|amelogenesis imperfecta pigmented hypomaturation type 1	http://purl.obolibrary.org/obo/MONDO_0008772	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the KLK4 gene.	MESH:C567146|MESH:C538242|http://identifiers.org/omim/204700|DOID:0110057
MONDO:0006111	bladder flat intraepithelial lesion	biolink:Disease	mondo	EFO:1000126|DOID:5429|NCIT:C37266|UMLS:C1332559		flat intraepithelial lesion of the bladder|bladder flat intraepithelial lesion|flat intraepithelial lesion of the urinary bladder|urinary bladder flat intraepithelial lesion	http://purl.obolibrary.org/obo/MONDO_0006111	A non-papillary neoplasm of the urinary bladder, whose classification categories include low-grade intraurothelial neoplasia and urothelial carcinoma in situ.	NCIT:C37266|DOID:5429|UMLS:C1332559
MONDO:0008771	amelogenesis imperfecta type 1G	biolink:Disease	mondo	MESH:C538241|ICD9:520.5|OMIM:204690|SCTID:109477002|Orphanet:1031|DOID:0110066|GARD:0009860|ICD10:K00.5|GARD:0000646	ordo_malformation_syndrome	amelogenesis imperfecta caused by mutation in FAM20A|amelogenesis imperfecta, type Ig|amelogenesis imperfecta nephrocalcinosis|ers|amelogenesis imperfecta, type 1G|amelogenesis imperfecta-nephrocalcinosis syndrome|FAM20A amelogenesis imperfecta|generalized enamel hypoplasia and renal dysfunction|amelogenesis imperfecta, hypoplastic, with nephrocalcinosis|amelogenesis imperfecta type Ig|amelogenesis imperfecta, type Ig; AI1G|enamel-renal syndrome|amelogenesis imperfecta and gingival fibromatosis syndrome|amelogenesis imperfecta and nephrocalcinosis|AI1G|amelogenesis imperfecta hypoplastic type, Ig|enamel renal syndrome|AIGFS|amelogenesis imperfecta hypoplastic with nephrocalcinosis|enamel-renal-gingival syndrome|AI1G|absent enamel, nephrocalcinosis and apparently normal calcium metabolism	http://purl.obolibrary.org/obo/MONDO_0008771	Amelogenesis imperfecta-nephrocalcinosis, also called enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure.	UMLS:C0403549|UMLS:C2931783|SNOMEDCT:109477002|MESH:C538241|ORPHA:1031|http://identifiers.org/omim/204690|DOID:0110066
MONDO:0043101	hypothalamic dysfunction	biolink:Disease	mondo	GARD:0002932|SCTID:111568001	gard_rare	hypothalamic syndrome|hypothalamic dysfunction	http://purl.obolibrary.org/obo/MONDO_0043101	Hypothalamic dysfunction refers to a condition in which the hypothalamus is not working properly. The hypothalamus produces hormones that control body temperature, hunger, moods, release of hormones from many glands such as the pituitary gland, sex drive, sleep, and thirst. The signs and symptoms patients havevary depending on the hormones missing.Anumber of different causes including anorexia, bleeding, genetic disorder, tumors, and more have been linked to hypothalamic dysfunction. Treatment depends on the cause of the hypothalamic dysfunction.	SNOMEDCT:111568001
MONDO:0008770	amelogenesis imperfecta type 1C	biolink:Disease	mondo	DOID:0110056|ICD10:K00.5|UMLS:C2673923|MESH:C567147|OMIM:204650		autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion|amelogenesis imperfecta, type IC; AI1C|autosomal recessive amelogenesis imperfecta local hypoplastic type|amelogenesis imperfecta, local hypoplastic type, autosomal recessive|AI1C|amelogenesis imperfecta, type IC|amelogenesis imperfecta, hypoplastic, with or without Openbite malocclusion, autosomal recessive|amelogenesis imperfecta type IC|amelogenesis imperfecta, type 1C	http://purl.obolibrary.org/obo/MONDO_0008770		UMLS:C2673923|MESH:C567147|http://identifiers.org/omim/204650|DOID:0110056
MONDO:0018107	idiopathic recurrent and disabling cutaneous herpes	biolink:Disease	mondo	UMLS:CN204468|Orphanet:35061|ICD10:B00.1	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018107		ORPHA:35061|UMLS:CN204468
MONDO:0018106	hereditary xanthinuria	biolink:Disease	mondo	SCTID:54627004|HP:0010934|Orphanet:3467|ICD9:277.2|DOID:0060236|ICD10:E79.8	ordo_disease	xanthic urolithiasis|hereditary xanthinuria|xanthine dehydrogenase deficiency|xanthinuria|xanthine oxidase deficiency|xanthine stone disease|classic xanthinuria	http://purl.obolibrary.org/obo/MONDO_0018106	Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.	DOID:0060236|ORPHA:3467|SNOMEDCT:54627004
MONDO:0018109	fulminant viral hepatitis	biolink:Disease	mondo	Orphanet:35063|ICD10:K72	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018109	Fulminant viral hepatitis is a rapid and severe impairment of liver functions (acute liver failure) with hepatic encephalopathy developing less than 8 weeks after the onset of jaundice, secondary to viral hepatitis mainly due to HBV, but also to HAV.	ORPHA:35063
MONDO:0018108	idiopathic disseminated cytomegalovirus infection	biolink:Disease	mondo	Orphanet:35062|UMLS:CN204469|ICD10:B25.8	ordo_disease	idiopathic disseminated CMV infection	http://purl.obolibrary.org/obo/MONDO_0018108		ORPHA:35062|UMLS:CN204469
MONDO:0018103	Quinquaud's folliculitis decalvans	biolink:Disease	mondo	ICD10:L66.2|Orphanet:346|SCTID:53593008|GARD:0000373|UMLS:CN227263|ICD9:704.09	ordo_disease|gard_rare	Quinquaud's decalvans folliculitis|folliculitis decalvans|Quinquaud's disease|Quinquaud’s disease	http://purl.obolibrary.org/obo/MONDO_0018103	Folliculitis decalvans is a rare chronic inflammatory cicatricial alopecia of the scalp occurring in middle-aged adults and characterized by the development of alopecic patches with slowly centrifugal spread predominantly in the vertex and occipital area of the scalp, associated with perifollicular erythema, follicular pustules and hemorrhagic crusts.	UMLS:CN227263|SNOMEDCT:53593008|ORPHA:346
MONDO:0018102	corneal dystrophy (disease)	biolink:Disease	mondo	MESH:D003317|NCIT:C34513|ICD10:H18.5|Orphanet:34533|SCTID:5587004|UMLS:C0010036|ICD10:H18.50|HP:0001131|MedDRA:10011005|ICD9:371.5|ICD9:371.50|DOID:2566	ordo_group_of_disorders	corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0018102	The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value.	UMLS:C0010036|DOID:2566|MESH:D003317|MEDDRA:10011005|ORPHA:34533|SNOMEDCT:5587004|NCIT:C34513
MONDO:0021745	psychosocial short stature	biolink:Disease	mondo	GARD:0009440|MESH:C535569|UMLS:C1455735|SCTID:39465007	gard_rare	abuse dwarfism syndrome|psychosocial dwarfism|child abuse dwarfism|Kaspar Hauser syndrome	http://purl.obolibrary.org/obo/MONDO_0021745	A growth disorder that is observed between the ages of 2 and 15, caused by extreme emotional deprivation or stress.	UMLS:C1455735|MESH:C535569|SNOMEDCT:39465007
MONDO:0018105	Wolfram syndrome	biolink:Disease	mondo	ICD9:250.80|Orphanet:3463|DOID:10632|UMLS:C0043207|SCTID:70694009|ICD10:E13.8|UMLS:CN184630|MESH:D014929|NCIT:C35133|GARD:0007898	ordo_disease	WFS|DIDMOAD|DIDMOAD syndrome|diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome|diabetes mellitus and insipidus with optic atrophy and deafness|diabetes insipidus, diabetes mellitus, optic atrophy, and deafness syndrome	http://purl.obolibrary.org/obo/MONDO_0018105	Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2).	SNOMEDCT:70694009|DOID:10632|UMLS:CN184630|ORPHA:3463|UMLS:C0043207|NCIT:C35133|MESH:D014929
MONDO:0021746	pyelocystitis	biolink:Disease	mondo	EFO:1001835|MESH:D053653|UMLS:C0034184		Pyelocystitis|Cystopyelitis	http://purl.obolibrary.org/obo/MONDO_0021746		UMLS:C0034184|MESH:D053653
MONDO:0018104	Torg-Winchester syndrome	biolink:Disease	mondo	ICD10:M89.5|Orphanet:3460	ordo_clinical_subtype	Winchester syndrome	http://purl.obolibrary.org/obo/MONDO_0018104		UMLS:C1850155|ORPHA:3460|MESH:C536051
MONDO:0021747	Acanthamoeba infectious disease	biolink:Disease	mondo	SCTID:49649001		Acanthamoeba infection|infections, Acanthamoeba|acanthamoebosis|acanthamoebiasis|infection caused by Acanthamoeba|infection by Acanthamoeba	http://purl.obolibrary.org/obo/MONDO_0021747	A infectious disease involving the Acanthamoeba.	SNOMEDCT:49649001
MONDO:0018101	familial primary hypomagnesemia with normocalciuria and normocalcemia	biolink:Disease	mondo	UMLS:CN204443|ICD10:E83.4|UMLS:C4510731|SCTID:725031005|Orphanet:34527	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018101	Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay.	SNOMEDCT:725031005|UMLS:CN204443|UMLS:C4510731|ORPHA:34527
MONDO:0018100	familial primary hypomagnesemia	biolink:Disease	mondo	GARD:0002906|Orphanet:34526|SCTID:80710001|OMIMPS:602014|DOID:0060879|ICD10:E83.4|NCIT:C123263	ordo_group_of_disorders	HOMG|familial primary hypomagnesemia|primary familial hypomagnesemia|hypomagnesemia	http://purl.obolibrary.org/obo/MONDO_0018100	A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration.	SNOMEDCT:80710001|DOID:0060879|NCIT:C123263|ORPHA:34526
MONDO:0006129	obsolete central nervous system lymphoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006129		
MONDO:0021742	puerperal infection	biolink:Disease	mondo	EFO:1001407|MESH:D011645|UMLS:C0034041		Infections, Puerperal|Puerperal Infection|Infection, Puerperal|Puerperal Infections	http://purl.obolibrary.org/obo/MONDO_0021742	An infection occurring in puerperium, the period of 6-8 weeks after giving birth.	MESH:D011645|UMLS:C0034041
MONDO:0006127	obsolete cecum villous adenoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006127		
MONDO:0008789	anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane	biolink:Disease	mondo	OMIM:206300|UMLS:C1859786|MESH:C565953		anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane	http://purl.obolibrary.org/obo/MONDO_0008789		MESH:C565953|http://identifiers.org/omim/206300|UMLS:C1859786
MONDO:0006128	central nervous system anaplastic large cell lymphoma	biolink:Disease	mondo	UMLS:C1335476|NCIT:C5322|EFO:1000156		anaplastic large cell lymphoma of central nervous system|anaplastic central nervous system large cell lymphoma|anaplastic large cell lymphoma of the CNS|anaplastic large cell lymphoma of the central nervous system|anaplastic large cell lymphoma of CNS|central nervous system anaplastic large cell lymphoma|primary central nervous system anaplastic large cell lymphoma|anaplastic CNS large cell lymphoma|primary CNS anaplastic large cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0006128	An anaplastic large cell lymphoma that affects the brain, meninges, or spinal cord.	NCIT:C5322|UMLS:C1335476
MONDO:0043114	Landy-Donnai syndrome	biolink:Disease	mondo	MESH:C537266|UMLS:C2931460|GARD:0003172	gard_rare	hydrops, ectrodactyly, syndactyly, duplication of the great toes	http://purl.obolibrary.org/obo/MONDO_0043114		MESH:C537266|UMLS:C2931460
MONDO:0008788	IRIDA syndrome	biolink:Disease	mondo	ICD10:D50.8|GARD:0010957|Orphanet:209981|OMIM:206200|SCTID:722005000|MESH:C562385	ordo_disease	iron-handling disorder, hereditary|iron-refractory iron deficiency anemia|iron-refractory iron deficiency anemia|pseudo-iron-deficiency Anemia|anemia, hypochromic microcytic, with defect in iron metabolism|IRIDA|iron-refractory iron deficiency anemia; IRIDA	http://purl.obolibrary.org/obo/MONDO_0008788	IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.	MESH:C562385|http://identifiers.org/omim/206200|SNOMEDCT:722005000|ORPHA:209981
SO:0002072	sequence_comparison	biolink:SequenceFeature	mondo			sequence comparison|INSDC_note:sequence_comparison|INSDC_feature:misc_feature	http://purl.obolibrary.org/obo/SO_0002072	A position or feature where two sequences have been compared.	
MONDO:0006125		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006125		
MONDO:0006126	cecum neuroendocrine tumor G1	biolink:Disease	mondo	EFO:1000154|NCIT:C5501|UMLS:C0854488		grade 1 neuroendocrine neoplasm of caecum|caecum NET G1|cecum NET G1|cecum neuroendocrine tumor G1|cecal carcinoid tumor|caecum neuroendocrine tumor, well differentiated, low grade|caecum carcinoid tumor|caecum carcinoid tumor|cecum carcinoid tumor|caecal carcinoid tumor|carcinoid tumor of the cecum|carcinoid tumor of cecum|caecum carcinoid tumor (disease)|caecum neuroendocrine neoplasm G1	http://purl.obolibrary.org/obo/MONDO_0006126	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the cecum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	UMLS:C0854488|NCIT:C5501
MONDO:0008787	microcytic anemia with liver iron overload	biolink:Disease	mondo	ICD10:D50.8|GARD:0012360|SCTID:711161006|Orphanet:83642|OMIM:206100	ordo_disease	hypochromic microcytic anemia with iron overload|AHMIO1|anemia, hypochromic microcytic, with iron overload 1|anemia, hypochromic microcytic, with iron overload type 1|anemia, hypochromic microcytic, with iron overload 1; AHMIO1|microcytic anemia and hepatic iron overload	http://purl.obolibrary.org/obo/MONDO_0008787	Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients.	ORPHA:83642|http://identifiers.org/omim/206100|SNOMEDCT:711161006
MONDO:0006123	cardiac rhabdomyoma (disease)	biolink:Disease	mondo	HP:0009729|EFO:1000150|NCIT:C6739|UMLS:C1332852		rhabdomyoma of the heart|rhabdomyoma of heart|cardiac rhabdomyoma|heart rhabdomyoma	http://purl.obolibrary.org/obo/MONDO_0006123	A well circumscribed benign tumor arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on tumor location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis.	NCIT:C6739|UMLS:C1332852
GO:0043401	steroid hormone mediated signaling pathway	biolink:OntologyClass	mondo			steroid hormone mediated signalling	http://purl.obolibrary.org/obo/GO_0043401	A series of molecular signals mediated by a steroid hormone binding to a receptor.	
MONDO:0008786	pyridoxine-responsive sideroblastic anemia	biolink:Disease	mondo	DOID:0060066|OMIM:206000|UMLS:C0272027|UMLS:C1859787|GARD:0009872|MESH:C565954|SCTID:191260004		anemia, sideroblastic, pyridoxine-responsive, autosomal recessive|anemia congenital sideroblastic B6-responsive|B6-responsive sideroblastic anemia|anemia, congenital sideroblastic, B6-responsive|sideroblastic anemia pyridoxine-responsive autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0008786		MESH:C565954|DOID:0060066|SNOMEDCT:191260004|http://identifiers.org/omim/206000|UMLS:C0272027|UMLS:C1859787
MONDO:0043116	iida kannari syndrome	biolink:Disease	mondo	GARD:0003249|UMLS:C2931159|MESH:C536284	gard_rare	craniosynostosis with joint contractures, ear deformity, cleft palate, scoliosis, and other features	http://purl.obolibrary.org/obo/MONDO_0043116		MESH:C536284|UMLS:C2931159
MONDO:0008785	sideroblastic anemia 2	biolink:Disease	mondo	MESH:C567145|DOID:0060065|GARD:0008249|OMIM:205950		pyridoxine refractory sideroblastic anemia|anemia, sideroblastic, 2, pyridoxine-refractory; SIDBA2|anemia, sideroblastic, pyridoxine-refractory, autosomal recessive|sideroblastic anemia pyridoxine-refractory autosomal recessive|anemia, sideroblastic, 2, pyridoxine-refractory|SIDBA2	http://purl.obolibrary.org/obo/MONDO_0008785		DOID:0060065|MESH:C567145|http://identifiers.org/omim/205950
MONDO:0006124		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006124		
GO:0043400	cortisol secretion	biolink:OntologyClass	mondo			hydrocortisone secretion	http://purl.obolibrary.org/obo/GO_0043400	The regulated release of cortisol, a steroid hormone that in humans is the major circulating hormone of the cortex, or outer layer, of the adrenal gland.	
MONDO:0006121	calcifying fibrous tumor	biolink:Disease	mondo	NCIT:C6488|EFO:1000148|UMLS:C1332833		CFT|calcifying fibrous pseudotumor|calcifying fibrous tumor	http://purl.obolibrary.org/obo/MONDO_0006121	A benign well-circumscribed paucicellular lesion arising from the soft tissues. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, psammoma bodies, and dystrophic calcifications.	NCIT:C6488|UMLS:C1332833
MONDO:0043110	jones hersh yusk syndrome	biolink:Disease	mondo	MESH:C535885|UMLS:C2931054|GARD:0003055	gard_rare	ptosis, ectropion, thin skin, beaked nose|aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly|aplasia cutis cleft palate epidermolysis	http://purl.obolibrary.org/obo/MONDO_0043110		MESH:C535885|UMLS:C2931054
MONDO:0008784	obsolete autoimmune hemolytic anemia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0008784		
MONDO:0008783	Tangier disease	biolink:Disease	mondo	MedDRA:10051875|MESH:D013631|SCTID:723579009|OMIM:205400|GARD:0007731|NCIT:C85182|DOID:1388|Orphanet:31150|ICD10:E78.6|UMLS:C0039292	ordo_disease	HDL lipoprotein deficiency disease|Analphalipoproteinemia|Tangier disease; tgd|defective adenosine triphosphate-binding cassette transporter A1|HDLDT1|cholesterol thesaurismosis|tgd|Tangier disease|A-alphalipoprotein neuropathy|Analphalipo-proteinemia|familial high density lipoprotein deficiency disease|high density lipoprotein deficiency, type 1|Alpha high density lipoprotein deficiency disease|familial hypoalphalipoproteinemia|high density lipoprotein deficiency, Tangier type|ATP-binding cassette transporter A1 deficiency|familial high density lipoprotein deficiency|familial alpha-lipoprotein deficiency|familial Hypoalphalipo-proteinemia	http://purl.obolibrary.org/obo/MONDO_0008783	Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.	NCIT:C85182|DOID:1388|SNOMEDCT:723579009|http://identifiers.org/omim/205400|UMLS:C0039292|ORPHA:31150|MESH:D013631|MEDDRA:10051875
MONDO:0006122	calcifying nested epithelial stromal tumor of the liver	biolink:Disease	mondo	ICDO:8975/1|UMLS:C3273067|NCIT:C96830|EFO:1000149			http://purl.obolibrary.org/obo/MONDO_0006122	A rare malignant tumor that arises from the liver and occurs in children. It is characterized by the presence of nested epithelioid and spindle cells. Desmoplasia, calcifications, and bone formation may also be present.	UMLS:C3273067|NCIT:C96830
MONDO:0008782	amyotrophic lateral sclerosis with polyglucosan bodies	biolink:Disease	mondo	OMIM:205250|MESH:C565955|UMLS:C1859805		amyotrophic lateral sclerosis with polyglucosan bodies	http://purl.obolibrary.org/obo/MONDO_0008782		http://identifiers.org/omim/205250|UMLS:C1859805|MESH:C565955
MONDO:0043112	lachiewicz sibley syndrome	biolink:Disease	mondo	GARD:0003157|MESH:C538131|UMLS:C2931742	gard_rare	hereditary renal disease and preauricular pits	http://purl.obolibrary.org/obo/MONDO_0043112		UMLS:C2931742|MESH:C538131
MONDO:0006120	C-cell hyperplasia	biolink:Disease	mondo	UMLS:C0342190|EFO:1000147|NCIT:C46100		C-cell hyperplasia	http://purl.obolibrary.org/obo/MONDO_0006120	Neoplastic or reactive proliferation of the C-cells in the thyroid gland. The neoplastic C-cell hyperplasia is associated with familial medullary thyroid gland carcinoma and multiple endocrine neoplasia type II and IIB. Morphologically, it is characterized by the presence of clusters of intrafollicular C-cells with atypical cytologic features. The reactive C-cell hyperplasia is also known as physiological or secondary C-cell hyperplasia and it is associated with conditions that cause hypercalcemia (e.g., hyperparathyroidism).	NCIT:C46100|UMLS:C0342190
MONDO:0008781	juvenile amyotrophic lateral sclerosis with dementia	biolink:Disease	mondo	OMIM:205200|DOID:0110067|MESH:C565956|UMLS:C1859806		ALS-dementia Complex|amyotrophic lateral sclerosis, juvenile, with dementia|ALS-dementia complex	http://purl.obolibrary.org/obo/MONDO_0008781	A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia.	http://identifiers.org/omim/205200|UMLS:C1859806|DOID:0110067|MESH:C565956
MONDO:0008780	amyotrophic lateral sclerosis type 2	biolink:Disease	mondo	OMIM:205100|ICD10:G12.2|DOID:0060194|MESH:C565957|GARD:0009470	gard_rare	ALS2|ALS2 amyotrophic lateral sclerosis|ALS, juvenile|amyotrophic lateral sclerosis caused by mutation in ALS2|amyotrophic lateral sclerosis 2|amyotrophic lateral sclerosis 2, juvenile|amyotrophic lateral sclerosis 2, juvenile; ALS2	http://purl.obolibrary.org/obo/MONDO_0008780	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ALS2 gene.	http://identifiers.org/omim/205100|MESH:C565957|DOID:0060194
MONDO:0043106	ichthyosis linearis circumflexa	biolink:Disease	mondo	GARD:0002967|SCTID:54336006	gard_rare	ichthyosis linearis circumflexa	http://purl.obolibrary.org/obo/MONDO_0043106		SNOMEDCT:54336006
MONDO:0043108	infantile striato thalamic degeneration	biolink:Disease	mondo	Orphanet:1575|GARD:0003004	gard_rare		http://purl.obolibrary.org/obo/MONDO_0043108		ORPHA:1575
MONDO:0021736	proctosigmoiditis	biolink:Disease	mondo	NCIT:C34950|SCTID:41364008|UMLS:C0033252|ICD9:569.89		Proctosigmoiditis|proctosigmoiditis|rectosigmoiditis|Rectosigmoiditis	http://purl.obolibrary.org/obo/MONDO_0021736	Inflammation of the sigmoid colon and rectum.	UMLS:C0033252|SNOMEDCT:41364008|NCIT:C34950
HGNC:21869	AGK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21869		
MONDO:0021739	prurigo	biolink:Disease	mondo	SCTID:64144002|ICD9:698.2|UMLS:C0033771|ICD9:698.8|MESH:D011536		prurigo|Itchy skin eruption|Prurigo|Pruritic rash|itchy skin eruption|pruritic rash	http://purl.obolibrary.org/obo/MONDO_0021739	A name applied to several itchy skin eruptions of unknown cause. The characteristic course is the formation of a dome-shaped papule with a small transient vesicle on top, followed by crusting over or lichenification. (From Dorland, 27th ed)	MESH:D011536|UMLS:C0033771|SNOMEDCT:64144002
MONDO:0018161	non-hereditary retinoblastoma	biolink:Disease	mondo	ICD10:C69.2|UMLS:CN204600|Orphanet:357034	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0018161		ORPHA:357034|UMLS:CN204600
MONDO:0018160	hereditary retinoblastoma	biolink:Disease	mondo	ICD10:C69.2|Orphanet:357027|NCIT:C8495|DOID:4648	ordo_clinical_subtype	familial retinoblastoma|hereditary retinoblastoma	http://purl.obolibrary.org/obo/MONDO_0018160	An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.	ORPHA:357027|NCIT:C8495|DOID:4648
MONDO:0033717	congenital cerebellar ataxia due to RNU12 mutation	biolink:Disease	mondo	Orphanet:512260	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0033717	A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume.	ORPHA:512260
MONDO:0018163	autosomal recessive cutis laxa type 2A	biolink:Disease	mondo	DOID:0070134|ICD10:Q82.8|Orphanet:357058	ordo_disease	autosomal recessive cutis laxa type IIA|ARCL2A	http://purl.obolibrary.org/obo/MONDO_0018163	An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.	ORPHA:357058|DOID:0070134
MONDO:0018162	neurometabolic disorder due to serine deficiency	biolink:Disease	mondo	Orphanet:35705|ICD10:E72.8|UMLS:CN227274	ordo_group_of_disorders	serine deficiency	http://purl.obolibrary.org/obo/MONDO_0018162	Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency.	ORPHA:35705|UMLS:CN227274
MONDO:0006178	dedifferentiated solitary fibrous tumor	biolink:Disease	mondo	EFO:1000214|UMLS:C2699572|NCIT:C79948			http://purl.obolibrary.org/obo/MONDO_0006178	A solitary fibrous tumor characterized by the presence of areas of abrupt transition to high grade sarcoma.	NCIT:C79948|UMLS:C2699572
GO:0043412	macromolecule modification	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0043412	The covalent alteration of one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule, resulting in a change in its properties.	
MONDO:0006179	desmoplastic ameloblastoma	biolink:Disease	mondo	UMLS:C0457533|EFO:1000215|NCIT:C39758		desmoplastic ameloblastoma	http://purl.obolibrary.org/obo/MONDO_0006179	An ameloblastoma with prominent desmoplastic stroma that causes compression of the neoplastic epithelial islands.	UMLS:C0457533|NCIT:C39758
MONDO:0006176	cribriform carcinoma	biolink:Disease	mondo	ICDO:8201/3|EFO:1000210|NCIT:C3680|UMLS:C0205643		cribriform carcinoma	http://purl.obolibrary.org/obo/MONDO_0006176	A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma.	NCIT:C3680|UMLS:C0205643
MONDO:0006177	obsolete cutaneous undifferentiated pleomorphic sarcoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006177		
MONDO:0006174	cortisol-producing adrenal cortex adenoma	biolink:Disease	mondo	UMLS:C1707525|NCIT:C48449|EFO:1000208		cortisol producing adrenal cortical adenoma|cortisol producing adrenal cortex adenoma|cortisol-producing adrenal cortex adenoma	http://purl.obolibrary.org/obo/MONDO_0006174	An adenoma of the adrenal cortex that produces cortisol. It may be associated with Cushing syndrome. Clinical presentation includes weight gain, round face, easy bruising, muscle weakness, emotional changes, hirsutism, and hypertension.	NCIT:C48449|UMLS:C1707525
MONDO:0006175	obsolete craniopharyngioma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006175		
MONDO:0006172	conjunctival nevus	biolink:Disease	mondo	SCTID:255006004|NCIT:C4551|DOID:0050906|UMLS:C0346363|EFO:1000205		conjunctival nevus|Nevus of the conjunctiva|Nevus of conjunctiva	http://purl.obolibrary.org/obo/MONDO_0006172	A benign melanocytic neoplasm that arises from the conjunctiva.	SNOMEDCT:255006004|DOID:0050906|NCIT:C4551|UMLS:C0346363
MONDO:0006173	conjunctival squamous cell carcinoma	biolink:Disease	mondo	SCTID:255003007|NCIT:C4549|UMLS:C0346359|DOID:1748|EFO:1000206		conjunctival squamous cell carcinoma|ocular surface squamous neoplasia|conjunctiva squamous cell carcinoma|invasive squamous cell carcinoma of the conjunctiva|conjunctival squamous cell cancer|conjunctiva epidermoid carcinoma|conjunctival epidermoid carcinoma|epidermoid carcinoma of the conjunctiva|epidermoid carcinoma of conjunctiva|squamous cell carcinoma of conjunctiva|squamous cell carcinoma of the conjunctiva	http://purl.obolibrary.org/obo/MONDO_0006173	A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain.	SNOMEDCT:255003007|DOID:1748|NCIT:C4549|UMLS:C0346359
UBERON_CORE:transitively_proximally_connected_to	transitively proximally connected to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/uberon/core#transitively_proximally_connected_to	.	
MONDO:0006170	conjunctival disorder	biolink:Disease	mondo	NCIT:C27605|MONDO:0002932|DOID:4251|EFO:1000203		conjunctiva disease|disease or disorder of conjunctiva|conjunctival disease|conjunctiva disease or disorder|conjunctival disorder|disease of conjunctiva|disorder of conjunctiva	http://purl.obolibrary.org/obo/MONDO_0006170	Any disorder of the conjunctiva.	DOID:4251|NCIT:C27605
MONDO:0006171	obsolete conjunctival melanoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006171		
GO:0043413	macromolecule glycosylation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0043413	The covalent attachment of a glycosyl residue to one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule.	
MONDO:0018169	morning glory syndrome	biolink:Disease	mondo	UMLS:C0549307|MedDRA:10027974|Orphanet:35737|GARD:0013354|ICD10:Q14.2	gard_rare|ordo_morphological_anomaly	Volubilis syndrome|Ectasic coloboma	http://purl.obolibrary.org/obo/MONDO_0018169	Morning glory syndrome (MGS) is an optic neuropathy characterized by a congenital funnel shaped excavation of the posterior fundus that incorporates the optic disc malformation (resembling the morning glory flower) MGS is usually unilateral and may result in a decrease in best-corrected visual acuity (BCVA). MGS either occurs isolated or associated to other ocular or non-ocular anomalies.	UMLS:C0549307|ORPHA:35737|MEDDRA:10027974
MONDO:0018168	primary non-essential cutis verticis gyrata	biolink:Disease	mondo	UMLS:CN204616|Orphanet:357225|ICD10:Q82.8	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018168		ORPHA:357225|UMLS:CN204616
MONDO:0018165	venous thoracic outlet syndrome	biolink:Disease	mondo	SCTID:25981000119102|ICD10:G54.0|UMLS:C1956396|Orphanet:357131	ordo_clinical_subtype	Venous scalenus anticus syndrome|effort subclavian vein thrombosis|Venous cervical rib syndrome|Paget-Schrotter disease|Venous hyperabduction syndrome|Venous TOS|Venous thoracic outlet compression syndrome|VTOS|Venous costoclavicular syndrome	http://purl.obolibrary.org/obo/MONDO_0018165	Venous thoracic outlet syndrome (VTOS) is a form of thoracic outlet syndrome (TOS) that manifests as unilateral (rarely bilateral) arm pain and cyanosis.	ORPHA:357131|UMLS:C1956396|SNOMEDCT:25981000119102
MONDO:0018164	arterial thoracic outlet syndrome	biolink:Disease	mondo	UMLS:C1956395|Orphanet:357107|ICD10:G54.0|SCTID:8051000119105	ordo_clinical_subtype	arterial scalenus anticus syndrome|arterial cervical rib syndrome|arterial thoracic outlet compression syndrome|arterial TOS|arterial hyperabduction syndrome|ATOS|arterial costoclavicular syndrome	http://purl.obolibrary.org/obo/MONDO_0018164	Arterial thoracic outlet syndrome (ATOS) is a form of thoracic outlet syndrome (TOS) that presents as unilateral upper extremity ischemia.	ORPHA:357107|UMLS:C1956395|SNOMEDCT:8051000119105
MONDO:0018167	primary essential cutis verticis gyrata	biolink:Disease	mondo	SCTID:765135003|UMLS:CN204615|Orphanet:357220|ICD10:Q82.8	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018167	Primary essential cutis verticis gyrata is a rare, progressive dermis disorder characterized by thickening of the scalp resulting in redundancy of the skin which gives rise to folds and grooves that give the scalp a cerebriform appearance. Folds cannot be corrected by pressure or traction and typically are symmetric and extend anteroposteriorly from vertex to occiput and/or transversely in occipital region. Additional features may include mild subungual hyperkeratosis and distal onycholysis of the nail plates of the great toes. It is not associated with neurological and ophthalmological changes, nor with secondary causes.	ORPHA:357220|SNOMEDCT:765135003|UMLS:CN204615
MONDO:0018166	oral submucous fibrosis	biolink:Disease	mondo	GARD:0007264|ICD10:K13.5|ICD9:528.8|EFO:1001818|UMLS:C0029172|UMLS:C0029171|DOID:5773|SCTID:32883009|NCIT:C34866|Orphanet:357154|MESH:D009914	ordo_disease|gard_rare	oral submucosal fibrosis|OSMF|oral submucosal fibrosis, including of tongue|oral cavity submucous fibrosis	http://purl.obolibrary.org/obo/MONDO_0018166	Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment.	MESH:D009914|ORPHA:357154|DOID:5773|NCIT:C34866|SNOMEDCT:32883009|UMLS:C0029172|UMLS:C0029171
MONDO:0018150	Gaucher disease	biolink:Disease	mondo	MESH:D005776|MedDRA:10018048|GARD:0008233|SCTID:190794006|DOID:1926|Orphanet:355|NCIT:C61268|ICD10:E75.2|UMLS:C0017205|ICD10:E75.22	ordo_disease	Gaucher syndrome|Gaucher splenomegaly|glucosylceramidase deficiency|kerasin lipoidosis|acute cerebral Gaucher disease|cerebroside lipidosis syndrome|lipoid histiocytosis (kerasin type)|glucosylceramide beta-glucosidase deficiency|glucocerebrosidosis|kerasin histiocytosis|acid beta-glucosidase deficiency|lipoid histiocytosis|Gaucher disease|glocucerebrosidase deficiency|glucocerebrosidase deficiency|kerasin thesaurismosis|glucosyl cerebroside lipidosis|Gaucher's disease|sphingolipidosis 1	http://purl.obolibrary.org/obo/MONDO_0018150	Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).	MEDDRA:10018048|ORPHA:355|NCIT:C61268|UMLS:C0017205|MESH:D005776|DOID:1926|SNOMEDCT:190794006
MONDO:0018152	serpiginous choroiditis	biolink:Disease	mondo	ICD10:H30.8|UMLS:C0729842|SCTID:312491004|ICD9:363.8|GARD:0000031|Orphanet:35686	gard_rare|ordo_disease	geographic serpiginous choroiditis|peripapillary choriopathy|serpiginous choroidopathy|geographic choroiditis|geographic helicoid peripapillary choroidopathy (GHPC)|geographic helicoid peripapillary choroidopathy	http://purl.obolibrary.org/obo/MONDO_0018152	Serpiginous choroiditis is a rare inflammatory eye condition that typicallydevelops betweenage 30 and 70 years. Affected individuals have lesions in the eye thatlast from weeks to months and involve scarringof the eye tissue.Recurrence of these lesionsis common in serpiginous choroiditis. Vision loss may occurin one or both eyeswhen the macula is involved. Treatment options involve anti-inflammatory and immune-suppressing medications.	SNOMEDCT:312491004|UMLS:C0729842|ORPHA:35686
MONDO:0018151	coenzyme Q10 deficiency	biolink:Disease	mondo	MESH:C564403|GARD:0010423|UMLS:C1843920|DOID:0050730|NCIT:C142083|SCTID:724575009|OMIMPS:607426|Orphanet:35656|UMLS:CN229570	ordo_group_of_disorders|gard_rare	CoQ10 deficiency|CoQ10 deficiency, primary|coenzyme Q10 deficiency, primary|coenzyme Q10 deficiency disease	http://purl.obolibrary.org/obo/MONDO_0018151	A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency.	SNOMEDCT:724575009|DOID:0050730|UMLS:C1843920|MESH:C564403|NCIT:C142083|ORPHA:35656|UMLS:CN229570
NCBITaxon:476427	Xenopsyllinae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_476427		
MONDO:0006189	eccrine porocarcinoma	biolink:Disease	mondo	SCTID:254708001|UMLS:C1266065|ICDO:8409/3|DOID:7566|MESH:D057090|ONCOTREE:POCA|EFO:1000229|NCIT:C5560|GARD:0007431	gard_rare	eccrine porocarcinoma|porocarcinoma|epidermotropic eccrine carcinoma|eccrine porocarcinoma of skin|porocarcinoma/spiroadenocarcinoma|malignant eccrine poroma	http://purl.obolibrary.org/obo/MONDO_0006189	A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites.	DOID:7566|UMLS:C1266065|SNOMEDCT:254708001|NCIT:C5560|MESH:D057090
MONDO:0006187	duodenal villous adenoma	biolink:Disease	mondo	EFO:1000225|NCIT:C5338|DOID:0050927|UMLS:C1333322		villous adenoma, duodenum|duodenal villous adenoma|duodenum villous adenoma|duodenum adenoma|villous adenoma of duodenum|villous adenoma of the duodenum	http://purl.obolibrary.org/obo/MONDO_0006187	A neoplasm that arises from the glandular epithelium of the duodenum. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features.	UMLS:C1333322|DOID:0050927|NCIT:C5338
MONDO:0006188	EBV-positive T-cell lymphoproliferative disorder of childhood	biolink:Disease	mondo	NCIT:C80373|UMLS:C2699838|EFO:1000228		EBV-positive T-cell lymphoproliferative disease of childhood|EBV-positive T-cell lymphoproliferative disorder of childhood	http://purl.obolibrary.org/obo/MONDO_0006188	An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoma of childhood and the hydroa vacciniforme-like lymphoma.	NCIT:C80373|UMLS:C2699838
MONDO:0006185	ductal or ductular proliferation	biolink:Disease	mondo	EFO:1000222			http://purl.obolibrary.org/obo/MONDO_0006185	A morphologic finding indicating the presence of typical or atypical proliferation of biliary epithelial cells in the portal tracts of the liver.	NCIT:C111786
MONDO:0006186	duodenal adenocarcinoma	biolink:Disease	mondo	EFO:1000223|SCTID:408644002|NCIT:C7889|UMLS:C0278804|ONCOTREE:DA|DOID:10816		adenocarcinoma of the duodenum|duodenal adenocarcinoma|duodenum adenocarcinoma|adenocarcinoma of duodenum	http://purl.obolibrary.org/obo/MONDO_0006186	A carcinoma that arises from glandular epithelial cells of the duodenum.	UMLS:C0278804|NCIT:C7889|SNOMEDCT:408644002|DOID:10816
MONDO:0006183	disseminated peritoneal leiomyomatosis	biolink:Disease	mondo	ICD10:D20.1|EFO:1000220|Orphanet:71274|UMLS:C0267785|NCIT:C3958|SCTID:62557001|GARD:0012843|DOID:5728	ordo_disease	DPL|LPD|diffuse peritoneal leiomyomatosis|leiomyomatosis peritonealis disseminate|disseminated peritoneal leiomyomatosis|leiomyomatosis peritonealis disseminata	http://purl.obolibrary.org/obo/MONDO_0006183	A rare, benign process that affects the peritoneal cavity and is characterized by the formation of multiple small nodules that are composed of well differentiated smooth muscle. It usually affects adults in their late reproductive years. Most patients are asymptomatic. The tumor nodules may regress spontaneously.	DOID:5728|ORPHA:71274|SNOMEDCT:62557001|NCIT:C3958|UMLS:C0267785
NCBITaxon:439488	ssRNA viruses	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_439488		
MONDO:0006184	ductal breast carcinoma in situ and lobular carcinoma in situ	biolink:Disease	mondo	EFO:1000221|NCIT:C4195|UMLS:C0334383|ICDO:8522/2		non-infiltrating ductal with non-infiltrating lobular carcinoma of breast|ductal and lobular breast carcinoma in situ|ductal and lobular carcinoma in situ of breast|non-infiltrating ductal with non-infiltrating lobular carcinoma of the breast|non-invasive ductal breast carcinoma with non-invasive lobular breast carcinoma|non-invasive ductal carcinoma with non-invasive lobular carcinoma of breast|non-invasive ductal carcinoma with non-invasive lobular carcinoma of the breast|ductal and lobular carcinoma in situ of the breast|intraductal and lobular carcinoma in situ of breast|intraductal and lobular carcinoma in situ of the breast|non-infiltrating ductal and non-infiltrating lobular breast carcinoma|non-invasive ductal and non-invasive lobular breast carcinoma|non-invasive ductal with non-invasive lobular breast carcinoma|non-invasive ductal and non-invasive lobular carcinoma|intraductal carcinoma and lobular carcinoma in situ|DCIS and LCIS of breast|DCIS and LCIS of the breast|ductal carcinoma in situ with lobular carcinoma in situ of breast|ductal carcinoma in situ with lobular carcinoma in situ of the breast|intraductal and lobular breast carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0006184	The co-existence of ductal and lobular carcinoma in situ in the breast, without evidence of stromal invasion.	NCIT:C4195|UMLS:C0334383
MONDO:0006181	digestive system carcinoma	biolink:Disease	mondo	UMLS:C0151544|EFO:1000218|HP:0002672|NCIT:C96963|DOID:0050922		gastrointestinal system carcinoma|carcinoma of digestive system|gastrointestinal carcinoma (disease)|digestive system carcinoma|carcinoma of the gastrointestinal system|gastrointestinal carcinoma	http://purl.obolibrary.org/obo/MONDO_0006181	A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma.	DOID:0050922|NCIT:C96963|UMLS:C0151544
MONDO:0006182	digestive system mixed adenoneuroendocrine carcinoma	biolink:Disease	mondo	ICDO:8244/3|UMLS:C2987129|EFO:1000219|NCIT:C95406		digestive system Mixed Adenoneuroendocrine cancer|mixed Adenoneuroendocrine carcinoma|gastrointestinal mixed Adenoneuroendocrine carcinoma|MANEC|digestive system mixed adenoneuroendocrine carcinoma|gastrointestinal MANEC	http://purl.obolibrary.org/obo/MONDO_0006182	A carcinoma that arises from the digestive system and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30% of either component should be present for the diagnosis to be made.	UMLS:C2987129|NCIT:C95406
MONDO:0006180	digestive system adenoma	biolink:Disease	mondo	DOID:4147|UMLS:C0948101|EFO:1000217|NCIT:C36207		gastrointestinal adenoma|GI adenoma|digestive system adenoma|digestive tract adenoma	http://purl.obolibrary.org/obo/MONDO_0006180	A sporadic or less frequently familial neoplasm, arising from the glandular epithelium of the stomach, small intestine, biliary tract, colon, and rectum. It is a polypoid or flat circumscribed lesion. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. The frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. Larger adenomas with severe dysplastic changes (sometimes called carcinoma in situ) carry a higher risk of progressing to invasive adenocarcinoma. Gastrointestinal adenomas may present as solitary or multifocal lesions. Familial adenomas tend to be multifocal and carry a higher risk of malignant transformation.	DOID:4147|UMLS:C0948101|NCIT:C36207
MONDO:0018158	mitochondrial DNA depletion syndrome	biolink:Disease	mondo	DOID:0070329|OMIMPS:603041|UMLS:CN239350|ICD10:G71.3|MedDRA:10059396|DC:0000284|Orphanet:35698	ordo_group_of_disorders	mtDNA depletion syndrome	http://purl.obolibrary.org/obo/MONDO_0018158	The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome.	ORPHA:35698|DOID:0070329|UMLS:CN239350|MEDDRA:10059396|UMLS:C0342782
MONDO:0018157	mitochondrial disorder due to a defect in mitochondrial protein synthesis	biolink:Disease	mondo	UMLS:CN227273|ICD10:E88.8|Orphanet:35696	ordo_group_of_disorders	combined OXPHOS defect|combined oxidative phosphorylation defect|combined OXPHOS deficiency|COXPD	http://purl.obolibrary.org/obo/MONDO_0018157		ORPHA:35696|UMLS:CN227273
MONDO:0018159	atypical hemolytic-uremic syndrome with DGKE deficiency	biolink:Disease	mondo	ICD10:D58.8|DOID:0080388|Orphanet:357008|UMLS:CN204596	ordo_etiological_subtype	hemolytic-uremic syndrome without diarrhea with DGKE deficiency|D-HUS with DGKE deficiency|atypical HUS with DGKE deficiency|aHUS with DGKE deficiency	http://purl.obolibrary.org/obo/MONDO_0018159		UMLS:CN204596|DOID:0080388|ORPHA:357008
MONDO:0018154	Madelung deformity	biolink:Disease	mondo	SCTID:4530000|MedDRA:10007700|ICD9:755.54|GARD:0012973|ICD10:Q74.0|Orphanet:35688	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0018154	Madelung disease, or deformity (MD) is a predominantly bilateral wrist anomaly characterized by shortened and bowed radii and long ulnae leading to dorsal dislocation of the distal ulna and limited mobility of the wrist and elbow.	UMLS:C0152441|MEDDRA:10007700|SNOMEDCT:4530000|ORPHA:35688
MONDO:0018153	Erdheim-Chester disease	biolink:Disease	mondo	DOID:4329|NCIT:C53972|MedDRA:10060801|ICD9:277.89|GARD:0006369|ONCOTREE:ECD|EFO:1000926|UMLS:C0878675|Orphanet:35687|ICD10:D76.3|MESH:D031249|SCTID:699537002	ordo_disease	lipoid granulomatosis|lipogranulomatosis|ECD|Erdheim Chester disease|polyostotic sclerosing histiocytosis|Erdheim-Chester disease	http://purl.obolibrary.org/obo/MONDO_0018153	Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement.	MESH:D031249|NCIT:C53972|DOID:4329|SNOMEDCT:699537002|UMLS:C0878675|MEDDRA:10060801|ORPHA:35687
MONDO:0018156	3q26q27 microdeletion syndrome	biolink:Disease	mondo	UMLS:CN204590|Orphanet:356947|ICD10:Q93.5	ordo_malformation_syndrome	monosomy 3q26-q27|monosomy 3q26q27|3q26-q27microdeletion syndrome|Del(3)(q26q27)	http://purl.obolibrary.org/obo/MONDO_0018156		ORPHA:356947|UMLS:CN204590
MONDO:0018155	lateral sclerosis	biolink:Disease	mondo	Orphanet:35689|DOID:230|ICD10:G12.29|NCIT:C129933|COHD:381003|ICD9:335.24|GARD:0010684|SCTID:81211007|UMLS:C0154682|ICD10:G12.2|MedDRA:10036704	ordo_disease	adult-onset primary lateral sclerosis|PLS|primary lateral sclerosis|adult-onset PLS	http://purl.obolibrary.org/obo/MONDO_0018155	Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production.	DOID:230|MEDDRA:10036704|NCIT:C129933|SNOMEDCT:81211007|UMLS:C0154682|ORPHA:35689
MONDO:0018141	pyruvate carboxylase deficiency, infantile form	biolink:Disease	mondo	UMLS:CN204538|ICD10:E74.4|Orphanet:353308	ordo_clinical_subtype	pyruvate carboxylase deficiency, infantile type|pyruvate carboxylase deficiency type A	http://purl.obolibrary.org/obo/MONDO_0018141	Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course.	UMLS:CN204538|ORPHA:353308
MONDO:0018140	obsolete burning mouth syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018140		
MONDO:0006158	colorectal diffuse large B-cell lymphoma	biolink:Disease	mondo	EFO:1000191|NCIT:C96503|UMLS:C3272827		colorectum diffuse large B-cell lymphoma|colorectal diffuse large B-cell lymphoma|colorectal DLBCL|diffuse large B-cell lymphoma of colorectum	http://purl.obolibrary.org/obo/MONDO_0006158	A diffuse large B-cell lymphoma that arises from the colon or rectum.	NCIT:C96503|UMLS:C3272827
MONDO:0006159	colorectal gastrointestinal stromal tumor	biolink:Disease	mondo	EFO:1000192|UMLS:C1333109|NCIT:C27735		colorectal gastrointestinal stromal tumor (gist)|colorectal (colon or rectal) gastrointestinal stromal tumor (gist)|colorectal gastrointestinal stromal tumor|colorectal gist	http://purl.obolibrary.org/obo/MONDO_0006159	A gastrointestinal stromal tumor that arises from the colon or rectum. The majority of cases have spindle cell morphology. Gastrointestinal stromal tumors of the colon are usually advanced upon detection and tend to have a poor prognosis; gastrointestinal stromal tumors of the rectum usually have an aggressive clinical course.	NCIT:C27735|UMLS:C1333109
GO:0043434	response to peptide hormone	biolink:OntologyClass	mondo			response to peptide hormone stimulus|response to polypeptide hormone stimulus	http://purl.obolibrary.org/obo/GO_0043434	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals.	
MONDO:0006156	colon sessile serrated adenoma/polyp	biolink:Disease	mondo	NCIT:C96464|EFO:1000189|UMLS:C3272791		colon SSA/P|colon sessile serrated adenoma/polyp|colon SSA|colon SSP|colon sessile serrated adenoma|colon sessile serrated polyp	http://purl.obolibrary.org/obo/MONDO_0006156	A polyp that arises from the colon. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colonic adenocarcinomas with microsatellite instability.	NCIT:C96464|UMLS:C3272791
MONDO:0006157	colorectal adenosquamous carcinoma	biolink:Disease	mondo	EFO:1000190|NCIT:C43589|UMLS:C1707437		colorectal adenosquamous cancer|colorectal (colon or rectal) adenosquamous cancer|colorectal adenosquamous carcinoma|colorectum adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0006157	An unusual colorectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas.	NCIT:C43589|UMLS:C1707437
GO:0043433	negative regulation of DNA-binding transcription factor activity	biolink:OntologyClass	mondo			negative regulation of thyroid hormone receptor activity|negative regulation of transcription factor activity|down-regulation of transcription factor activity|negative regulation of androgen receptor activity|down regulation of transcription factor activity|negative regulation of DNA binding transcription factor activity|negative regulation of sequence-specific DNA binding transcription factor activity|downregulation of transcription factor activity|inhibition of transcription factor activity	http://purl.obolibrary.org/obo/GO_0043433	Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription.	
MONDO:0006154	colon mucosa-associated lymphoid tissue lymphoma	biolink:Disease	mondo	UMLS:C1333096|NCIT:C5498|EFO:1000186		MALT lymphoma of the colon|colonic MALT lymphoma|MALT lymphoma of colon|colon MALToma|MALToma of the colon|colonic MALToma|MALToma of colon|colon MALT lymphoma|colonic mucosa-associated lymphoid tissue lymphoma	http://purl.obolibrary.org/obo/MONDO_0006154	An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon.	UMLS:C1333096|NCIT:C5498
MONDO:0006155	colon neuroendocrine tumor G1	biolink:Disease	mondo	NCIT:C5497|EFO:1000188		colon carcinoid tumor|colon neuroendocrine neoplasm G1|colon neuroendocrine tumor G1|colon carcinoid tumor|colon NET G1|carcinoid tumor of the colon|carcinoid tumor of colon|colon neuroendocrine tumor, well differentiated, low grade|grade 1 neuroendocrine neoplasm of colon|colon carcinoid tumor (disease)|colonic carcinoid tumor	http://purl.obolibrary.org/obo/MONDO_0006155	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	NCIT:C5497
MONDO:0006152	colon inflammatory polyp	biolink:Disease	mondo	EFO:1000184|UMLS:C0267392|NCIT:C5517		colonic inflammatory polyp|inflammatory polyp of the colon|inflammatory polyp of colon	http://purl.obolibrary.org/obo/MONDO_0006152	A non-neoplastic polypoid lesion in the colon. It may arise in a background of inflammatory bowel disease or colitis. It is characterized by the presence of a distorted epithelium, inflammation, and fibrosis.	UMLS:C0267392|NCIT:C5517
MONDO:0006153	colon juvenile polyp	biolink:Disease	mondo	UMLS:C1333090|EFO:1000185|NCIT:C5518		retention polyp of the colon|juvenile polyp of the colon|juvenile polyp of colon|retention polyp of colon|colon retention polyp|colonic retention polyp|colonic juvenile polyp	http://purl.obolibrary.org/obo/MONDO_0006153	A non-neoplastic hamartomatous polyp that arises from the colon. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation.	UMLS:C1333090|NCIT:C5518
HP:0030791	Abnormal jaw morphology	biolink:PhenotypicFeature	mondo	UMLS:C4280767			http://purl.obolibrary.org/obo/HP_0030791	A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla.	
MONDO:0006150	colon Burkitt lymphoma	biolink:Disease	mondo	UMLS:C1333083|EFO:1000182|NCIT:C27465		colon Burkitt lymphoma|Burkitts lymphoma of colon|colon Burkitt's lymphoma|primary colon Burkitt's lymphoma|Burkitt lymphoma of colon|colon Burkitts lymphoma	http://purl.obolibrary.org/obo/MONDO_0006150	A rare Burkitt lymphoma that arises from the colon.	UMLS:C1333083|NCIT:C27465
MONDO:0006151	colon dysplasia	biolink:Disease	mondo	NCIT:C4847|UMLS:C1302363|SCTID:308870004|EFO:1000183		dysplasia of the colon|dysplasia of colon|colonic dysplasia	http://purl.obolibrary.org/obo/MONDO_0006151	A morphologic finding indicating the presence of dysplastic glandular epithelial cells in the colonic mucosa. There is no evidence of invasion.	NCIT:C4847|UMLS:C1302363|SNOMEDCT:308870004
GO:0043436	oxoacid metabolic process	biolink:OntologyClass	mondo			keto acid metabolic process|oxo acid metabolic process|ketoacid metabolism|oxoacid metabolism|ketoacid metabolic process|oxo acid metabolism|keto acid metabolism	http://purl.obolibrary.org/obo/GO_0043436	The chemical reactions and pathways involving any oxoacid; an oxoacid is a compound which contains oxygen, at least one other element, and at least one hydrogen bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons).	
MONDO:0018147	idiopathic macular telangiectasia type 3	biolink:Disease	mondo	ICD10:H35.5|UMLS:CN204545|Orphanet:353351	ordo_disease	occlusive idiopathic juxtafoveolar retinal telangiectasis	http://purl.obolibrary.org/obo/MONDO_0018147	Idiopathic macular telangiectasia type 3 is a rare, acquired, eye disease characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease.	ORPHA:353351|UMLS:CN204545
MONDO:0018146	idiopathic macular telangiectasia type 1	biolink:Disease	mondo	UMLS:CN204544|Orphanet:353344|ICD10:H35.5	ordo_disease	visible and exudative idiopathic juxtafoveolar retinal telangiectasis|aneurysmal telangiectasia	http://purl.obolibrary.org/obo/MONDO_0018146	Idiopathic macular telangiectasia type 1 is a rare, acquired, eye disease characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates.	ORPHA:353344|UMLS:CN204544
NCBITaxon:439490	unclassified ssRNA viruses	organism taxon	mondo	GC_ID:1		unassigned ssRNA viruses	http://purl.obolibrary.org/obo/NCBITaxon_439490		
MONDO:0018149	GM1 gangliosidosis	biolink:Disease	mondo	ICD9:277.6|MESH:D016537|Orphanet:354|NCIT:C84739|ICD10:E75.19|GARD:0010891|SCTID:124465002|DOID:3322|UMLS:C0085131|ICD10:E75.1	ordo_disease	Landing syndrome|GM>1< gangliosidosis|GLB1 deficiency|deficiency of beta-galactosidase|Landing disease|GLB 1 deficiency|Beta-galactosidosis|Beta-galactosidase-1 deficiency|beta-galactosidase deficiency|gangliosidosis GM1|Beta-galactosidase deficiency|Beta galactosidase 1 deficiency	http://purl.obolibrary.org/obo/MONDO_0018149	GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.	MESH:D016537|NCIT:C84739|SNOMEDCT:124465002|UMLS:C0085131|ORPHA:354|DOID:3322
MONDO:0018148	vasoproliferative tumor of retina	biolink:Disease	mondo	ICD10:D31.2|UMLS:CN204546|Orphanet:353356	ordo_disease	VPTR|vasoproliferative tumor of the ocular fundus|vasoproliferative tumor of ocular fundus|retinal vasoproliferative tumor|vasoproliferative tumor of the retina	http://purl.obolibrary.org/obo/MONDO_0018148	Vasoproliferative tumor of the retina is a rare, benign, retinal vascular disease characterized by solitary or multiple, unilateral or bilateral, intra-retinal tumor(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub- and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular edema, as well as, occasionally, retinal and vitreous hemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity, or coloboma, has been reported.	ORPHA:353356|UMLS:CN204546
MONDO:0018143	pyruvate carboxylase deficiency, benign type	biolink:Disease	mondo	Orphanet:353320|ICD10:E74.4|UMLS:CN204540	ordo_clinical_subtype	pyruvate carboxylase deficiency type C	http://purl.obolibrary.org/obo/MONDO_0018143	Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development.	UMLS:CN204540|ORPHA:353320
MONDO:0018142	pyruvate carboxylase deficiency, severe neonatal type	biolink:Disease	mondo	ICD10:E74.4|UMLS:CN204539|Orphanet:353314	ordo_clinical_subtype	pyruvate carboxylase deficiency type B	http://purl.obolibrary.org/obo/MONDO_0018142	Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy.	UMLS:CN204539|ORPHA:353314
MONDO:0018145	congenital retinal arteriovenous communication	biolink:Disease	mondo	ICD10:Q14.8|Orphanet:353334	ordo_morphological_anomaly	congenital arteriovenous communication of the retina|congenital arteriovenous anastomoses of the retina|congenital retinal arteriovenous anastomoses	http://purl.obolibrary.org/obo/MONDO_0018145		ORPHA:353334
MONDO:0018144	congenital myasthenic syndromes with glycosylation defect	biolink:Disease	mondo	Orphanet:353327|ICD10:G70.2	ordo_etiological_subtype		http://purl.obolibrary.org/obo/MONDO_0018144		ORPHA:353327
HP:0040126	Abnormal vitamin B12 level	biolink:PhenotypicFeature	mondo	UMLS:C4021032		Abnormal serum cobalamin level	http://purl.obolibrary.org/obo/HP_0040126	A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins.	
MONDO:0018130	brain dopamine-serotonin vesicular transport disease	biolink:Disease	mondo	Orphanet:352649|SCTID:717942003|UMLS:C4303546|UMLS:CN204508|ICD10:G25.8	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018130	Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.	UMLS:CN204508|ORPHA:352649|SNOMEDCT:717942003|UMLS:C4303546
MONDO:0021783	streptococcal sore throat	biolink:Disease	mondo	EFO:1002024|UMLS:C0036689|SCTID:43878008|ICD9:034.0|NCIT:C116003		Strept throat|Streptococcal pharyngitis|Strep throat|streptococcal pharyngitis|Septic sore throat|Streptococcal angina|Streptococcal sore throat|strep throat|Streptococcal Pharyngitis	http://purl.obolibrary.org/obo/MONDO_0021783	Inflammation of the throat due to Streptococcus pyogenes.	NCIT:C116003|UMLS:C0036689|SNOMEDCT:43878008
MONDO:0006169	complex endometrial hyperplasia	biolink:Disease	mondo	UMLS:C0349578|EFO:1000202|ICD9:621.32|SCTID:198322002|NCIT:C35423|COHD:198471			http://purl.obolibrary.org/obo/MONDO_0006169	A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures. Epithelial atypia may be present or absent.	SNOMEDCT:198322002|NCIT:C35423|UMLS:C0349578
MONDO:0006167	combined lung carcinoma	biolink:Disease	mondo	UMLS:C1333123|EFO:1000200|NCIT:C7591		combined lung cancer|combined carcinoma of lung|combined carcinoma of the lung|combined lung carcinoma	http://purl.obolibrary.org/obo/MONDO_0006167	A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells.	UMLS:C1333123|NCIT:C7591
MONDO:0006168	obsolete common hematopoietic neoplasm	biolink:Disease	mondo	EFO:1000201			http://purl.obolibrary.org/obo/MONDO_0006168		NCIT:C7588
MONDO:0006165	colorectal squamous cell carcinoma	biolink:Disease	mondo	EFO:1000198|NCIT:C43588|UMLS:C1707442		colorectum squamous cell carcinoma|colorectal squamous cell cancer|colorectal squamous cell carcinoma|colorectal (colon or rectal) squamous cell cancer	http://purl.obolibrary.org/obo/MONDO_0006165	A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate.	UMLS:C1707442|NCIT:C43588
MONDO:0006166	columnar cell hyperplasia of the breast	biolink:Disease	mondo	UMLS:C1707446|NCIT:C54183|EFO:1000199		CCH|columnar cell hyperplasia of breast	http://purl.obolibrary.org/obo/MONDO_0006166	A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by more than two layers of columnar epithelial cells. Prominent apical cytoplasmic snouts are present. Secretions are often present in the lumina of the dilated acini.	UMLS:C1707446|NCIT:C54183
MONDO:0006163	colorectal serrated adenocarcinoma	biolink:Disease	mondo	UMLS:C3272809|EFO:1000196|ICDO:8213/3|NCIT:C96485		colorectal serrated adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006163	A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture.	UMLS:C3272809|NCIT:C96485
MONDO:0006164	colorectal sessile serrated adenoma/polyp	biolink:Disease	mondo	EFO:1000197|UMLS:C2826783|NCIT:C83176		colorectal SSA/P|colorectal SSA|colorectal mixed hyperplastic adenomatous polyp|colorectal SSP|colorectal sessile serrated adenoma|colorectal mixed hyperplastic adenomatous polyp/serrated adenoma|colorectal sessile serrated polyp|colorectal sessile serrated adenoma/polyp	http://purl.obolibrary.org/obo/MONDO_0006164	A polyp that arises from the colon or rectum. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colorectal adenocarcinomas with microsatellite instability.	UMLS:C2826783|NCIT:C83176
MONDO:0006161	colorectal juvenile polyp	biolink:Disease	mondo	NCIT:C5681|EFO:1000194		large bowel juvenile polyp|large intestinal juvenile polyp|juvenile polyp of the large bowel|juvenile polyp of large bowel|colorectal retention polyp	http://purl.obolibrary.org/obo/MONDO_0006161	A non-neoplastic hamartomatous polyp that arises from the colon and rectum. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation.	NCIT:C5681
NCBITaxon:523103	Trichophyton mentagrophytes	organism taxon	mondo	GC_ID:1		Ctenomyces mentagrophytes|Arthroderma vanbreuseghemii|Spiralia mentagrophytes|Ectotrichophyton mentagrophytes|Microsporum mentagrophytes|Microides mentagrophytes	http://purl.obolibrary.org/obo/NCBITaxon_523103		
MONDO:0006162	colorectal neuroendocrine tumor G1	biolink:Disease	mondo	NCIT:C96160|EFO:1000195|UMLS:C3272611		grade 1 neuroendocrine neoplasm of colorectum|colorectum carcinoid tumor|colorectal neuroendocrine tumor G1|large intestinal neuroendocrine tumor G1|colorectum neuroendocrine tumor, well differentiated, low grade|colorectal carcinoid tumor|colorectum carcinoid tumor|colorectal NET G1|colorectum neuroendocrine neoplasm G1|colorectum NET G1	http://purl.obolibrary.org/obo/MONDO_0006162	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	UMLS:C3272611|NCIT:C96160
MONDO:0006160	colorectal hamartoma	biolink:Disease	mondo	NCIT:C96474|EFO:1000193|UMLS:C3272801		colorectal hamartoma|colorectum hamartoma (disease)|large intestinal hamartoma	http://purl.obolibrary.org/obo/MONDO_0006160	A non-neoplastic, hamartomatous polyp that arises from the colon and rectum. This group includes the juvenile polyp, Peutz-Jeghers polyp, and Cowden-associated polyp.	UMLS:C3272801|NCIT:C96474
MONDO:0018139	scleredema	biolink:Disease	mondo	ICD10:M34.8|SCTID:95323007|Orphanet:352763|GARD:0005975	ordo_disease	Buschke scleredema	http://purl.obolibrary.org/obo/MONDO_0018139		SNOMEDCT:95323007|ORPHA:352763
MONDO:0018136	minimal pigment oculocutaneous albinism type 1	biolink:Disease	mondo	SCTID:237919007|Orphanet:352734|ICD10:E70.3|ICD9:270.2|UMLS:CN204521	ordo_clinical_subtype	OCA1-MP|MP OCA type 1	http://purl.obolibrary.org/obo/MONDO_0018136	Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi.	UMLS:CN204521|ORPHA:352734|SNOMEDCT:237919007
MONDO:0021777	acute rheumatic heart disease	biolink:Disease	mondo	SCTID:312591002|UMLS:C0035440|NCIT:C34985|ICD9:391.9|ICD9:391.8		active rheumatic fever with heart involvement|acute rheumatic carditis|acute rheumatic fever with heart involvement|acute rheumatic heart disease|acute rheumatic heart disease|Active rheumatic fever with heart involvement|acute Rheumatic Heart Disease	http://purl.obolibrary.org/obo/MONDO_0021777	Pancarditis, involving inflammation of the endocardium, myocardium, and epicardium. It results from an autoimmune reaction following an infection with Streptococcus pyogenes (Group A Streptococci).	NCIT:C34985|SNOMEDCT:312591002|UMLS:C0035440
MONDO:0018135	oculocutaneous albinism type 1	biolink:Disease	mondo	UMLS:CN119529|Orphanet:352731|SCTID:765146000|GARD:0004037|ICD10:E70.3	ordo_disease	OCA1|ATN|oculocutaneous albinism, tyrosinase negative	http://purl.obolibrary.org/obo/MONDO_0018135	Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).	SNOMEDCT:765146000|ORPHA:352731|UMLS:CN119529
MONDO:0018138	ocular albinism with congenital sensorineural deafness	biolink:Disease	mondo	Orphanet:352740|UMLS:C1863198|OMIM:103470|ICD10:E70.3|DOID:0090100	ordo_disease	albinism, ocular, with sensorineural deafness|digenic Waardenburg syndrome/ocular albinism|autosomal recessive Waardenburg syndrome type 2 with ocular albinism|Waardenburg syndrome type 2 with ocular albinism|WS2-OA|ocular albinism with sensorineural deafness|digenic Waardenburg syndrome/albinism|Waardenburg syndrome, type 2, with ocular albinism, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0018138		UMLS:C1863198|http://identifiers.org/omim/103470|ORPHA:352740|DOID:0090100
MONDO:0018137	temperature-sensitive oculocutaneous albinism type 1	biolink:Disease	mondo	ICD10:E70.3|UMLS:C1847132|Orphanet:352737	ordo_clinical_subtype	TS OCA type 1|OCA1-TS	http://purl.obolibrary.org/obo/MONDO_0018137	Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas).	UMLS:C1847132|ORPHA:352737
MONDO:0018132	congenital muscular alpha-dystroglycanopathy with brain and eye anomalies	biolink:Disease	mondo	Orphanet:352687|GARD:0012588|DOID:0111229	gard_rare|ordo_group_of_disorders	MDDGA|lissencephaly type 2 with muscular and ocular involvement	http://purl.obolibrary.org/obo/MONDO_0018132	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy.	ORPHA:352687|DOID:0111229
MONDO:0018131	neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion	biolink:Disease	mondo	Orphanet:352665|ICD10:Q93.5|UMLS:CN204512	ordo_etiological_subtype	9q21 microdeletion syndrome|Del(9)(q21)	http://purl.obolibrary.org/obo/MONDO_0018131		UMLS:CN204512|ORPHA:352665
MONDO:0018134	disorder of melanin metabolism	biolink:Disease	mondo	Orphanet:352728|UMLS:CN227269	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018134		UMLS:CN227269|ORPHA:352728
MONDO:0018133	attenuated Chédiak-Higashi syndrome	biolink:Disease	mondo	UMLS:CN204519|Orphanet:352723|UMLS:C4304022|ICD10:E70.3|SCTID:720520009	ordo_disease	attenuated Chediak-Higashi syndrome|atypical Chediak-Higashi syndrome|atypical Chédiak-Higashi syndrome	http://purl.obolibrary.org/obo/MONDO_0018133	Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS, a genetic disorder characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.	UMLS:CN204519|ORPHA:352723|SNOMEDCT:720520009|UMLS:C4304022
MONDO:0008839	ataxia-microcephaly-cataract syndrome	biolink:Disease	mondo	MESH:C563086|UMLS:C0796056|OMIM:208870		AMC syndrome|ataxia-microcephaly-cataract syndrome	http://purl.obolibrary.org/obo/MONDO_0008839		MESH:C563086|http://identifiers.org/omim/208870|UMLS:C0796056
UBERON:0015031	pedal digit 1 phalanx endochondral element	biolink:AnatomicalEntity	mondo			pedal digit I phalanx endochondral element|pedal digit 1 phalanx element|pedal digit 1 phalanx skeletal element	http://purl.obolibrary.org/obo/UBERON_0015031	A pedal digit 1 phalanx bone or its cartilage or pre-cartilage precursor.	
MONDO:0008838	ataxia - deafness - intellectual disability syndrome	biolink:Disease	mondo	Orphanet:1188|SCTID:720517001|GARD:0004644|MESH:C535295|OMIM:208850|ICD10:G11.1	ordo_malformation_syndrome	ataxia, hearing loss, and mental retardation|Reardon-Baraitser syndrome|ataxia-hearing loss-intellectual disability syndrome|Reardon Wilson Cavanagh syndrome|ataxia, hearing loss, and intellectual disability|familial ataxia, deafness, and developmental delay|ataxia-deafness-retardation syndrome|Adr syndrome	http://purl.obolibrary.org/obo/MONDO_0008838	This syndrome is characterised by progressive ataxia beginning during childhood, deafness and intellectual deficit.	http://identifiers.org/omim/208850|SNOMEDCT:720517001|ORPHA:1188|MESH:C535295
MONDO:0008837	ataxia, deafness, and cardiomyopathy	biolink:Disease	mondo	OMIM:208750|UMLS:C1859645|MESH:C565932		ataxia, deafness, and cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0008837		http://identifiers.org/omim/208750|UMLS:C1859645|MESH:C565932
MONDO:0008836	ataxia with myoclonic epilepsy and presenile dementia	biolink:Disease	mondo	MESH:C565933|UMLS:C1859646|OMIM:208700		ataxia with myoclonic epilepsy and presenile dementia	http://purl.obolibrary.org/obo/MONDO_0008836		http://identifiers.org/omim/208700|UMLS:C1859646|MESH:C565933
MONDO:0008835	asthma, short stature, and elevated IgA	biolink:Disease	mondo	UMLS:C1859647|MESH:C565934|OMIM:208600		asthma, short stature, and elevated IgA	http://purl.obolibrary.org/obo/MONDO_0008835		http://identifiers.org/omim/208600|UMLS:C1859647|MESH:C565934
MONDO:0008834	asthma, nasal polyps, and aspirin intolerance	biolink:Disease	mondo	OMIM:208550|UMLS:C1859648|DOID:0111579		asthma, nasal polyps, and aspirin intolerance|asthma and nasal polyps|asthma, aspirin-induced, susceptibility to|Asa triad	http://purl.obolibrary.org/obo/MONDO_0008834		http://identifiers.org/omim/208550|UMLS:C1859648|DOID:0111579
UBERON:0015030	pedal digit phalanx endochondral element	biolink:AnatomicalEntity	mondo			pedal digit phalanx skeletal element|pedal digit phalanx element	http://purl.obolibrary.org/obo/UBERON_0015030	A pedal digit phalanx bone or its cartilage or pre-cartilage precursor.	
MONDO:0008833	renal-hepatic-pancreatic dysplasia 1	biolink:Disease	mondo	OMIM:208540|UMLS:C3715199		Rhpd|RHPD1|renal-hepatic-pancreatic dysplasia type 1|NPHP3 renal-hepatic-pancreatic dysplasia|renal-hepatic-pancreatic dysplasia 1; RHPD1|renal-hepatic-pancreatic dysplasia caused by mutation in NPHP3|renal-hepatic-pancreatic dysplasia 1	http://purl.obolibrary.org/obo/MONDO_0008833	Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NPHP3 gene.	UMLS:C3715199|http://identifiers.org/omim/208540
MONDO:0008832	right atrial isomerism (disease)	biolink:Disease	mondo	DOID:0060856|OMIM:208530|GARD:0006795|MedDRA:10068335|HP:0011536|ICD10:Q20.6|Orphanet:97548	ordo_malformation_syndrome	asplenia with cardiovascular anomalies|Polyasplenia|right atrial isomerism|right isomerism|Ivemark syndrome|heterotaxy, Visceroatrial, autosomal recessive|asplenia syndrome|bilateral right-sidedness sequence|Vah, autosomal recessive|right atrial isomerism; RAI|RAI|polysplenia syndrome|splenic agenesis syndrome	http://purl.obolibrary.org/obo/MONDO_0008832	A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12.	DOID:0060856|MEDDRA:10068335|ORPHA:97548|http://identifiers.org/omim/208530
MONDO:0008831	asphyxiating thoracic dystrophy 1	biolink:Disease	mondo	UMLS:CN119532|OMIM:208500|DOID:0110085|ICD10:Q77.2		short-rib thoracic dysplasia 1 with or without polydactyly; SRTD1|asphyxiating thoracic dystrophy type 1|ATD1|asphyxiating thoracic dystrophy 1|short-rib thoracic dysplasia 1 with or without polydactyly|thoracic-pelvic-phalangeal dystrophy|SRTD1|Jeune syndrome	http://purl.obolibrary.org/obo/MONDO_0008831	An asphyxiating thoracic dystrophy associated with variation in the region 15q13.	UMLS:CN119532|DOID:0110085|http://identifiers.org/omim/208500
MONDO:0008830	aspartylglucosaminuria	biolink:Disease	mondo	UMLS:C0268225|MESH:D054880|Orphanet:93|NCIT:C61273|MedDRA:10068220|ICD10:E77.1|SCTID:54954004|OMIM:208400|DOID:0050461|GARD:0005854	ordo_disease	Aga deficiency|glycosylasparaginase deficiency|Glycoasparaginase|AGU|aspartylglucosaminuria|aspartylglucosaminuria; AGU|aspartylglucosaminidase deficiency|Aspartylglucosamidase (AGA) deficiency|aspartylglycosaminuria	http://purl.obolibrary.org/obo/MONDO_0008830	Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).	ORPHA:93|UMLS:C2931840|UMLS:C0268225|MESH:C538402|DOID:0050461|NCIT:C61273|MESH:D054880|SNOMEDCT:54954004|http://identifiers.org/omim/208400|MEDDRA:10068220
UBERON:0015036	pedal digit metatarsal endochondral element	biolink:AnatomicalEntity	mondo			pedal digit metatarsal element|pedal digit metatarsal skeletal element	http://purl.obolibrary.org/obo/UBERON_0015036	A pedal digit metatarsal bone or its cartilage or pre-cartilage precursor.	
UBERON:0015035	pedal digit 5 phalanx endochondral element	biolink:AnatomicalEntity	mondo			pedal digit V phalanx endochondral element|pedal digit 5 phalanx skeletal element|pedal digit 5 phalanx element	http://purl.obolibrary.org/obo/UBERON_0015035	A pedal digit 5 phalanx bone or its cartilage or pre-cartilage precursor.	
UBERON:0015037	pedal digit 1 metatarsal endochondral element	biolink:AnatomicalEntity	mondo			pedal digit 1 metatarsal skeletal element|pedal digit 1 metatarsal element|pedal digit I metatarsal endochondral element	http://purl.obolibrary.org/obo/UBERON_0015037	A pedal digit 1 metatarsal bone or its cartilage or pre-cartilage precursor.	
UBERON:0003054	roof plate	biolink:AnatomicalEntity	mondo			roof plate neural tube region|roofplate|roof plate neural tube|alar plate|future brain roof plate	http://purl.obolibrary.org/obo/UBERON_0003054	A single row of glia at the dorsal midline of the developing neural tube along the entire anterior-posterior axis. This region provides inductive signals for the specification of neuronal cell types and of the specification of neural crest cells. The cells comprising the roof plate are the precursors to radial glial cells.	
UBERON:0003055	periderm	biolink:AnatomicalEntity	mondo			EVL|epidermis epithelial layer|periderm|epidermis outer layer|skin periderm|epitrichium	http://purl.obolibrary.org/obo/UBERON_0003055	A temporary epithelium that derives from the outer layer of the ectdoerm and is shed once the inner layer differentiates to form a true epidermis.	
MONDO:0021808	acute cholinergic dysautonomia	biolink:Disease	mondo	UMLS:C2930973|GARD:0009394|MESH:C535672	gard_rare	ACD	http://purl.obolibrary.org/obo/MONDO_0021808	A primary dysautonomia characterized by hypohidrosis and selective parasympathetic peripheral autonomic nerve disturbances of acute onset.	UMLS:C2930973|MESH:C535672
MONDO:0021809	primary dysautonomia	biolink:Disease	mondo	MESH:D054969		Dysautonomias|primary dysautonomia|dysautonomia, primary|dysautonomia|Dysautonomias, primary	http://purl.obolibrary.org/obo/MONDO_0021809	Disorders of the autonomic nervous system occurring as a primary condition. Manifestations can involve any or all body systems but commonly affect the blood pressure and heart rate.	MESH:D054969
UBERON:0003052	midbrain-hindbrain boundary	biolink:AnatomicalEntity	mondo			isthmus/MHB|mid-hindbrain boundary|isthmic organizer territory|midbrain hindbrain boundary|mid-hindbrain junction|isthmo-cerebellar region|isthmus|MHB	http://purl.obolibrary.org/obo/UBERON_0003052	The part of the brain that is the morphological boundary between the midbrain and hindbrain and that is the location of an organizing center which patterns the midbrain and hindbrain primordia of the neural plate.	
UBERON:0003050	olfactory placode	biolink:AnatomicalEntity	mondo			placoda olfactoria|olfactory placodes|placoda nasalis|nasal I placode|nasal placode	http://purl.obolibrary.org/obo/UBERON_0003050	A thick plate of cells derived from the neural ectoderm in the head region of the embryo that develops into the olfactory region of the nasal cavity.	
HP:0003107	Abnormal circulating cholesterol concentration	biolink:PhenotypicFeature	mondo	UMLS:C4025656		Abnormal cholesterol homeostasis|Abnormality of cholesterol metabolism	http://purl.obolibrary.org/obo/HP_0003107	Any deviation from the normal concentration of cholesterol in the blood circulation.	
UBERON:0003051	ear vesicle	biolink:AnatomicalEntity	mondo			otic vesicle|acoustic vesicle|OV|auditory vesicle|otocyst	http://purl.obolibrary.org/obo/UBERON_0003051	An epithelial sac of invaginated ectoderm formed from the otic placode that gives rise to the structures of the inner ear[MP]	
UBERON:0003059	presomitic mesoderm	biolink:AnatomicalEntity	mondo			unsegmented mesenchyme|somitomeric mesoderm|PSM|somitogenic mesoderm|segmental plate|presumptive somite mesoderm|unsegmented paraxial mesoderm	http://purl.obolibrary.org/obo/UBERON_0003059	Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form.	
MONDO:0021804	silicotuberculosis	biolink:Disease	mondo	UMLS:C0037118|SCTID:233763009|MESH:D012830|ICD9:502		Silicotuberculoses|Silicotuberculosis|silicotuberculosis	http://purl.obolibrary.org/obo/MONDO_0021804	Pulmonary or extrapulmonary infection caused by MYCOBACTERIUM TUBERCULOSIS or nontuberculous mycobacteria in a patient with silicosis.	UMLS:C0037118|SNOMEDCT:233763009|MESH:D012830
UBERON:0003056	pre-chordal neural plate	biolink:AnatomicalEntity	mondo			anterior neural plate	http://purl.obolibrary.org/obo/UBERON_0003056	The portion of neural plate anterior to the mid-hindbrain junction.	
MONDO:0021805	acromesomelic dysplasia, Campailla Martinelli type	biolink:Disease	mondo	GARD:0000505|UMLS:C2930969|MESH:C535659	gard_rare	mesomelic dwarfism Campailla-Martinelli type|acromesomelic dysplasia Campailla Martinelli type	http://purl.obolibrary.org/obo/MONDO_0021805		UMLS:C2930969|MESH:C535659
UBERON:0003057	chordal neural plate	biolink:AnatomicalEntity	mondo			posterior neural plate	http://purl.obolibrary.org/obo/UBERON_0003057	The portion of neural plate posterior to the mid-hindbrain junction.	
UBERON:0015021	forelimb endochondral element	biolink:AnatomicalEntity	mondo			forelimb skeletal element	http://purl.obolibrary.org/obo/UBERON_0015021	A forelimb bone or its cartilage or pre-cartilage precursor.	
MONDO:0008849	atrophoderma vermiculata	biolink:Disease	mondo	GARD:0009744|OMIM:209700|ICD9:701.8|Orphanet:79100|ICD10:L66.4|SCTID:2736005	gard_rare|ordo_disease	folliculitis ulerythematosa reticulata|atrophoderma vermiculata|folliculitis ulerythematosa|Atrophodermia vermiculata|honeycomb atrophy|atrophoderma vermiculatum|Atrophodermia reticulata symmetrica faciei|ava|atrophoderma vermiculata; ava|Atrophodermia reticulata|folliculitis ulerythematosa reticulate	http://purl.obolibrary.org/obo/MONDO_0008849		SNOMEDCT:2736005|ORPHA:79100|http://identifiers.org/omim/209700
UBERON:0015023	phalanx endochondral element	biolink:AnatomicalEntity	mondo			phalanx element|phalanx skeletal element	http://purl.obolibrary.org/obo/UBERON_0015023	A phalanx bone or its cartilage or pre-cartilage precursor.	
MONDO:0008848	atrioventricular dissociation (disease)	biolink:Disease	mondo	HP:0011709|MESH:D006327|SCTID:50799005|OMIM:209600|ICD9:426.89		atrioventricular dissociation|A-V dissociation|atrioventricular dissociation	http://purl.obolibrary.org/obo/MONDO_0008848	Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the sinoatrial node and the right atrium (sa block) or between atria and ventricles (av block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects.	SNOMEDCT:50799005|MESH:D006327|http://identifiers.org/omim/209600
UBERON:0015022	hindlimb endochondral element	biolink:AnatomicalEntity	mondo			hindlimb bone skeletal element	http://purl.obolibrary.org/obo/UBERON_0015022	A hindlimb bone or its cartilage or pre-cartilage precursor.	
MONDO:0008847	atrichia with papular lesions	biolink:Disease	mondo	UMLS:C1859592|MESH:C565924|SCTID:715963002|OMIM:209500|Orphanet:86819|ICD10:L65.8|DOID:0060689	ordo_disease	atrichia with papular lesions; APL|atrichia with papular lesions|papular atrichia|APL	http://purl.obolibrary.org/obo/MONDO_0008847	Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.	DOID:0060689|UMLS:C1859592|ORPHA:86819|MESH:C565924|http://identifiers.org/omim/209500|SNOMEDCT:715963002
MONDO:0008846	atransferrinemia	biolink:Disease	mondo	Orphanet:1195|OMIM:209300|DOID:0050649|GARD:0009595|UMLS:C0521802|MESH:C538259|NCIT:C125693|ICD10:E88.0|SCTID:111571009	ordo_disease|gard_rare	transferrin serum level quantitative trait locus 1|congenital atransferrinemia|congenital hypotransferrinemia|familial hypotransferrinemia|hereditary atransferrinemia|atransferrinemia|hypotransferrinemia, familial	http://purl.obolibrary.org/obo/MONDO_0008846	Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.	SNOMEDCT:111571009|NCIT:C125693|UMLS:C0521802|UMLS:C1859593|MESH:C538259|ORPHA:1195|DOID:0050649|http://identifiers.org/omim/209300
MONDO:0008845	atonic-astatic syndrome of Foerster	biolink:Disease	mondo	MESH:C565926|OMIM:209100|UMLS:C1859594		atonic-astatic syndrome of Foerster	http://purl.obolibrary.org/obo/MONDO_0008845		UMLS:C1859594|http://identifiers.org/omim/209100|MESH:C565926
MONDO:0008844	Athrombia, essential	biolink:Disease	mondo	OMIM:209050|UMLS:C1859595|MESH:C565927		Athrombia, essential	http://purl.obolibrary.org/obo/MONDO_0008844		UMLS:C1859595|http://identifiers.org/omim/209050|MESH:C565927
HGNC:1228	SERPING1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1228		
MONDO:0008843	atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome	biolink:Disease	mondo	OMIM:209010|MESH:C565928|SCTID:720519003|Orphanet:1192|GARD:0002279	ordo_malformation_syndrome	Feigenbaum Bergeron Richardson syndrome|Feigenbaum-Bergeron-Richardson syndrome|atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease|premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder	http://purl.obolibrary.org/obo/MONDO_0008843	Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome is characterised by sensorineural deafness, diabetes mellitus, progressive neurological deterioration with photomyoclonic epilepsy, and progressive nephropathy. It has been described in two brothers. Premature atherosclerosis of renal, coronary, and cerebral arteries and the aorta was also observed.	ORPHA:1192|http://identifiers.org/omim/209010|MESH:C565928|SNOMEDCT:720519003
UBERON:0015029	manual digit 5 phalanx endochondral element	biolink:AnatomicalEntity	mondo			manual digit 5 phalanx element|manual digit V phalanx endochondral element|manual digit 5 phalanx skeletal element	http://purl.obolibrary.org/obo/UBERON_0015029	A manual digit 5 phalanx bone or its cartilage or pre-cartilage precursor.	
MONDO:0008842	ataxia with oculomotor apraxia type 1	biolink:Disease	mondo	MESH:C538013|DOID:0050754|ICD10:G11.3|GARD:0009283|UMLS:C1859598|Orphanet:1168|OMIM:208920	ordo_disease	early-onset ataxia with oculomotor apraxia and hypoalbuminemia|ataxia, adult-onset, with oculomotor apraxia|ataxia-oculomotor apraxia 1|ataxia-telangiectasia-like syndrome|ataxia-oculomotor apraxia type 1|EOCA-HA|ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia|ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; EAOH|cerebellar ataxia, early-onset, with hypoalbuminemia|early-onset cerebellar ataxia with hypoalbuminemia|AOA1|EAOH|APTX oculomotor apraxia or related oculomotor disease|ataxia-oculomotor apraxia syndrome|oculomotor apraxia or related oculomotor disease caused by mutation in APTX	http://purl.obolibrary.org/obo/MONDO_0008842	Ataxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.	UMLS:C1859598|MESH:C538013|ORPHA:1168|DOID:0050754|http://identifiers.org/omim/208920
MONDO:0008841	ataxia-telangiectasia with generalized skin pigmentation and early death	biolink:Disease	mondo	UMLS:C1859615|MESH:C565930|OMIM:208910		ataxia-telangiectasia with generalized skin pigmentation and early death	http://purl.obolibrary.org/obo/MONDO_0008841		UMLS:C1859615|MESH:C565930|http://identifiers.org/omim/208910
MONDO:0008840	ataxia telangiectasia	biolink:Disease	mondo	ICD10:G11.3|MESH:D001260|Orphanet:100|DOID:12704|UMLS:C0004135|NCIT:C2887|MedDRA:10003594|ICD9:334.8|GARD:0005862|SCTID:68504005|OMIM:208900	gard_rare|ordo_disease	ataxia - telangiectasia|boder-Sedgwick syndrome|Louis-Bar syndrome|ataxia - telangiectasia variant|AT, complementation group E|ataxia telangiectasia syndrome|AT, complementation group D|immunodeficiency with ataxia telangiectasia|AT, complementation group C|ataxia-telangiectasia; AT|AT, complementation group A|AT|AT1|Louis Bar syndrome|cerebello-oculocutaneous telangiectasia|ataxia telangiectasia	http://purl.obolibrary.org/obo/MONDO_0008840	Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.	SNOMEDCT:68504005|MESH:D001260|ORPHA:100|NCIT:C2887|MEDDRA:10003594|DOID:12704|UMLS:C0004135|http://identifiers.org/omim/208900
UBERON:0015025	manual digit 1 phalanx endochondral element	biolink:AnatomicalEntity	mondo			manual digit I phalanx endochondral element|manual digit 1 phalanx element|manual digit 1 phalanx skeletal element	http://purl.obolibrary.org/obo/UBERON_0015025	A manual digit 1 phalanx bone or its cartilage or pre-cartilage precursor.	
UBERON:0015024	manual digit phalanx endochondral element	biolink:AnatomicalEntity	mondo			manual digit phalanx element|manual digit phalanx skeletal element	http://purl.obolibrary.org/obo/UBERON_0015024	A manual digit phalanx bone or its cartilage or pre-cartilage precursor.	
MONDO:0033809	isolated blepharochalasis	biolink:Disease	mondo	Orphanet:519390	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0033809		ORPHA:519390
UBERON:0003041	trigeminal nerve fibers	biolink:AnatomicalEntity	mondo			central part of trigeminal nerve|trigeminal nerve tract|fibrae nervi trigemini|trigeminal nerve fibers	http://purl.obolibrary.org/obo/UBERON_0003041	A nerve fiber that is part of a trigeminal nerve.	
HP:0003112	Abnormal circulating amino acid concentration	biolink:PhenotypicFeature	mondo	UMLS:C4025653		Abnormality of serum amino acid levels|Abnormality of serum amino acid level	http://purl.obolibrary.org/obo/HP_0003112	The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation.	
HP:0003119	Abnormal circulating lipid concentration	biolink:PhenotypicFeature	mondo	UMLS:C0242339|MSH:D050171|SNOMEDCT_US:370992007|UMLS:C4025650		Dyslipidemia	http://purl.obolibrary.org/obo/HP_0003119	Any deviation from the normal concentration of a lipid in the blood circulation.	
HP:0003117	Abnormal circulating hormone level	biolink:PhenotypicFeature	mondo	UMLS:C4025652		Abnormality of circulating hormone level	http://purl.obolibrary.org/obo/HP_0003117	An abnormal concentration of a hormone in the blood.	
MONDO:0033810	isolated iridoschisis	biolink:Disease	mondo	Orphanet:519392	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0033810		ORPHA:519392
HP:0003111	Abnormal blood ion concentration	biolink:PhenotypicFeature	mondo	UMLS:C4025654|SNOMEDCT_US:237840007|UMLS:C1704431		Abnormality of ion homeostasis|Electrolyte disorders	http://purl.obolibrary.org/obo/HP_0003111	Abnormality of the homeostasis (concentration) of a monoatomic ion.	
HGNC:1232	EGLN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1232		
HP:0003110	Abnormality of urine homeostasis	biolink:PhenotypicFeature	mondo	UMLS:C4025655		Urine issues|Pee issues	http://purl.obolibrary.org/obo/HP_0003110	An abnormality of the composition of urine or the levels of its components.	
MONDO:0033818	Terrien marginal degeneration	biolink:Disease	mondo	Orphanet:519410	ordo_disease	Terrien's marginal degeneration	http://purl.obolibrary.org/obo/MONDO_0033818	A distinct marginal thinning of the cornea which causes high degree of against-the-rule astigmatism	ORPHA:519410
MONDO:0008818	arterial tortuosity syndrome	biolink:Disease	mondo	OMIM:208050|GARD:0000774|UMLS:C1859726|SCTID:458432002|MESH:C565942|ICD10:Q87.82|ICD10:I77.1|Orphanet:3342|DOID:0050645	ordo_malformation_syndrome	arterial tortuosity syndrome; ATS|arterial tortuosity syndrome|ATS|arterial tortuosity	http://purl.obolibrary.org/obo/MONDO_0008818	Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.	DOID:0050645|SNOMEDCT:458432002|http://identifiers.org/omim/208050|MESH:C565942|ORPHA:3342|UMLS:C1859726
UBERON:0015010	sacral vertebra endochondral element	biolink:AnatomicalEntity	mondo			sacral vertebra skeletal element|sacral vertebra element	http://purl.obolibrary.org/obo/UBERON_0015010	A vertebra endochondral element that is part of the sacral region of the vertebral column.	
MONDO:0008817	arterial calcification, generalized, of infancy, 1	biolink:Disease	mondo	NCIT:C128805|OMIM:208000		idiopathic infantile arterial calcification|Gaci|arterial calcification of infancy caused by mutation in ENPP1|arterial calcification, generalized, of infancy, type 1|arterial calcification, idiopathic infantile|generalized arterial calcification of infancy 1|arterial calcification, generalized, of infancy, 1|arteriopathy, occlusive infantile|arterial calcification, generalized, of infancy, 1; GACI1|coronary sclerosis, medial, of infancy|ENPP1 arterial calcification of infancy|GACI1	http://purl.obolibrary.org/obo/MONDO_0008817	An autosomal recessive genetic disorder caused by mutations in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by calcification and narrowing of medium- and large-sized arteries, resulting in cardiovascular complications.	NCIT:C128805|http://identifiers.org/omim/208000
MONDO:0008816	Chiari malformation type II	biolink:Disease	mondo	GARD:0009232|Orphanet:1136|MedDRA:10056945|SCTID:373587001|ICD10:Q07.0|OMIM:207950	ordo_morphological_anomaly	Arnold-Chiari malformation|Arnold Chiari malformation type II|Arnold-Chiari malformation type 2|Arnold-Chiari malformation type II|Chiari malformation type II|Chiari malformation type 2|Cm2|Chiari type II malformation	http://purl.obolibrary.org/obo/MONDO_0008816	Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache.	UMLS:C0750930|MEDDRA:10056945|http://identifiers.org/omim/207950|ORPHA:1136|SNOMEDCT:373587001
MONDO:0033816	thygeson superficial punctate keratopathy	biolink:Disease	mondo	Orphanet:519406	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0033816	An insidious, chronic and recurrent disorder, characterized by small and elevated oval corneal intraepithelial, whitish-gray opacities, extending to the entire anterior surface of the cornea of both eyes. Corneal lesions show a tendency for the central pupillary area distribution with mild or absent conjunctival inflammation and no association to systemic disease.	ORPHA:519406
MONDO:0008815	argininosuccinic aciduria	biolink:Disease	mondo	UMLS:C0268547|GARD:0005843|NCIT:C84569|DOID:14755|ICD10:E72.2|Orphanet:23|OMIM:207900|SCTID:41013004|MESH:D056807|MedDRA:10058299	ordo_disease|gard_rare	argininosuccinic acidemia|ASL deficiency|argininosuccinatelyase deficiency|argininosuccinate lyase deficiency|argininosuccinic aciduria|argininosuccinase deficiency|argininosuccinicaciduria|argininosuccinate acidemia|ASA deficiency|arginino succinase deficiency|argininosuccinic acid lyase deficiency|arginosuccinase deficiency|urea cycle disorder, arginino succinase type|deficiency of argininosuccinate lyase|inborn error of urea synthesis, arginino succinic type	http://purl.obolibrary.org/obo/MONDO_0008815	Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction.	SNOMEDCT:41013004|DOID:14755|MEDDRA:10058299|ORPHA:23|NCIT:C84569|http://identifiers.org/omim/207900|UMLS:C0268547|MESH:D056807
UBERON:0017672	abdominal viscera	biolink:AnatomicalEntity	mondo			set of abdominal viscera|abdominal viscera set|abdominal viscera	http://purl.obolibrary.org/obo/UBERON_0017672	A viscus that is part of a abdomen.	
MONDO:0008814	hyperargininemia	biolink:Disease	mondo	UMLS:C0268548|Orphanet:90|NCIT:C84568|MedDRA:10062695|DOID:9278|GARD:0005840|ICD10:E72.21|SCTID:23501004|OMIM:207800|ICD10:E72.2|MESH:D020162	ordo_disease	hyperargininemia|arginase deficiency|deficiency of canavanase|Arg1 deficiency|argininemia	http://purl.obolibrary.org/obo/MONDO_0008814	Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.	MEDDRA:10062695|DOID:9278|ORPHA:90|NCIT:C84568|MESH:D020162|SNOMEDCT:23501004|http://identifiers.org/omim/207800|UMLS:C0268548
MONDO:0008813	arachnoid cyst	biolink:Disease	mondo	SCTID:33595009|MESH:D016080|UMLS:C0078981|ICD10:G93.0|NCIT:C3455|MedDRA:10049005|GARD:0000017|Orphanet:2356	ordo_morphological_anomaly|gard_rare	arachnoid cysts	http://purl.obolibrary.org/obo/MONDO_0008813	Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with hydrocephalus; headache; seizures; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115)	UMLS:C0078981|MESH:D016080|NCIT:C3455|MEDDRA:10049005|ORPHA:2356|SNOMEDCT:33595009
MONDO:0008812	AREDYLD syndrome	biolink:Disease	mondo	OMIM:207780|GARD:0008509|ICD9:753.3|UMLS:C0342280|SCTID:237610008|MESH:C537427|Orphanet:1133|ICD10:Q87.8	ordo_malformation_syndrome	acral renal ectodermal dysplasia lipoatrophic diabetes|acrorenal defect-ectodermal dysplasia-diabetes syndrome|AREDYLD|acrorenal Field defect, ectodermal dysplasia, and lipoatrophic diabetes	http://purl.obolibrary.org/obo/MONDO_0008812	AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait.	http://identifiers.org/omim/207780|SNOMEDCT:237610008|ORPHA:1133|MESH:C537427|UMLS:C0342280
MONDO:0008811	XK aprosencephaly	biolink:Disease	mondo	ICD10:Q04.3|MESH:C536767|Orphanet:3469|GARD:0000424|UMLS:C0795952|SCTID:277921008|OMIM:207770	gard_rare|ordo_malformation_syndrome	Xk syndrome|atelencephaly|aprosencephaly syndrome|Garcia-Lurie syndrome|XK-aprosencephaly|XK-aprosencephaly syndrome|XK aprosencephaly syndrome|aprosencephaly-atelencephaly syndrome	http://purl.obolibrary.org/obo/MONDO_0008811	XK aprosencephaly is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance.	UMLS:C0431348|http://identifiers.org/omim/207770|ORPHA:3469|UMLS:C0795952|MESH:C536767|SNOMEDCT:277921008
MONDO:0008810	familial apolipoprotein C-II deficiency	biolink:Disease	mondo	UMLS:C0268199|SCTID:33513003|UMLS:C1720779|OMIM:207750|DOID:0111418|Orphanet:309020|ICD10:E78.3	ordo_clinical_subtype	hyperlipoproteinemia, type IB|Apoc2 deficiency|C-II Anapolipoproteinemia|hyperlipoproteinemia, type 1B|apolipoprotein C-II deficiency|familial apoC-II deficiency	http://purl.obolibrary.org/obo/MONDO_0008810		ORPHA:309020|UMLS:C1720779|http://identifiers.org/omim/207750|UMLS:C0268199|SNOMEDCT:33513003|DOID:0111418
UBERON:0015019	rib endochondral element	biolink:AnatomicalEntity	mondo			rib skeletal element|rib element	http://purl.obolibrary.org/obo/UBERON_0015019	A rib bone or its cartilage or pre-cartilage precursor.	
UBERON:0015014	calcaneum endochondral element	biolink:AnatomicalEntity	mondo			calcaneum element|calcaneum skeletal element	http://purl.obolibrary.org/obo/UBERON_0015014	A calcaneum bone or its cartilage or pre-cartilage precursor.	
UBERON:0015013	fibula endochondral element	biolink:AnatomicalEntity	mondo			fibula element|fibula skeletal element	http://purl.obolibrary.org/obo/UBERON_0015013	The major postaxial endochondral element in the posterior zeugopod[Phenoscape].	
UBERON:0005695	manual digit 5 mesenchyme	biolink:AnatomicalEntity	mondo			fore limb digit 5 mesenchyme|manual digit V mesenchyme|hand digit 5 mesenchyme	http://purl.obolibrary.org/obo/UBERON_0005695	Mesenchyme that is part of a developing manual digit 5.	
UBERON:0005691	4th arch mesenchyme	biolink:AnatomicalEntity	mondo			4th branchial arch mesenchyme|4th pharyngeal arch mesenchyme|pharyngeal arch 4 mesenchyme	http://purl.obolibrary.org/obo/UBERON_0005691	Mesenchyme that is part of a pharyngeal arch 4.	
UBERON:0005690	3rd arch mesenchyme	biolink:AnatomicalEntity	mondo			3rd pharyngeal arch mesenchyme|3rd branchial arch mesenchyme|pharyngeal arch 3 mesenchyme	http://purl.obolibrary.org/obo/UBERON_0005690	Mesenchyme that is part of a pharyngeal arch 3.	
MONDO:0033821	fungal keratitis	biolink:Disease	mondo	Orphanet:519930	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0033821		ORPHA:519930
HGNC:1247	C1S	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1247		
HGNC:1248	C2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1248		
HGNC:1245	C1QC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1245		
UBERON:0003038	thoracic spinal cord	biolink:AnatomicalEntity	mondo			thoracic segments of spinal cord [1-12]|pars thoracica medullae spinalis|thoracic region of spinal cord|thoracic spinal cord|thoracic segment of spinal cord|segmenta thoracica medullae spinalis [1-12]	http://purl.obolibrary.org/obo/UBERON_0003038	The thoracic nerves are the spinal nerves emerging from the thoracic vertebrae. [WP,unvetted].	
HGNC:1246	C1R	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1246		
UBERON:0005699	pedal digit 5 mesenchyme	biolink:AnatomicalEntity	mondo			pedal digit V mesenchyme|hind limb digit 5 mesenchyme|foot digit 5 mesenchyme	http://purl.obolibrary.org/obo/UBERON_0005699	Mesenchyme that is part of a developing pedal digit 5.	
UBERON:0003037	septum	biolink:AnatomicalEntity	mondo			septa	http://purl.obolibrary.org/obo/UBERON_0003037	A wall, dividing a cavity or structure into smaller ones[WP].	
MONDO:0008809	polyneuropathy-hand defect syndrome	biolink:Disease	mondo	MESH:C535624|GARD:0002589|UMLS:C2930955|Orphanet:2926|OMIM:207740|ICD10:Q87.8	ordo_malformation_syndrome|gard_rare	aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy|polyneuropathy, hand defect|digital extensor muscle aplasia-polyneuropathy|Hamanishi-Ueba-Tsuji syndrome|Hamanishi Ueba Tsuji syndrome|congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0008809	Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.	ORPHA:2926|MESH:C535624|http://identifiers.org/omim/207740|UMLS:C2930955
HGNC:1241	C1QA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1241		
HGNC:1242	C1QB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1242		
MONDO:0008808	aplasia cutis congenita-intestinal lymphangiectasia syndrome	biolink:Disease	mondo	Orphanet:1116|GARD:0000753|SCTID:720500008|MESH:C537788|OMIM:207731	ordo_disease	ACC with intestinal lymphangiectasia|Bronspiegel-Zelnick syndrome|autosomal recessive aplasia cutis|aplasia cutis congenita with intestinal lymphangiectasia|aplasia cutis congenita intestinal lymphangiectasia	http://purl.obolibrary.org/obo/MONDO_0008808	Aplasia cutis congenita - intestinal lymphangiectasia is an extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985.	MESH:C537788|SNOMEDCT:720500008|http://identifiers.org/omim/207731|UMLS:C1859753|ORPHA:1116
MONDO:0008829	chylous ascites	biolink:Disease	mondo	NCIT:C34482|UMLS:C0008732|ICD10:I89.8|MedDRA:10003446|Orphanet:1160|SCTID:52985009|MESH:D002915|GARD:0001359|OMIM:208300|ICD9:457.8	gard_rare|ordo_disease	congenital chylous ascites|ascites, chylous	http://purl.obolibrary.org/obo/MONDO_0008829	Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain.	UMLS:C0008732|http://identifiers.org/omim/208300|MEDDRA:10003446|SNOMEDCT:52985009|ORPHA:1160|MESH:D002915|NCIT:C34482
MONDO:0008828	camptodactyly-arthropathy-coxa vara-pericarditis syndrome	biolink:Disease	mondo	OMIM:208250|EFO:0009028|MESH:C537560|GARD:0000306|DOID:0090127|Orphanet:2848	ordo_disease|gard_rare	camptodactyly-arthropathy-coxa vara-pericarditis syndrome; CACP|hypertrophic synovitis, congenital familial|fibrosing serositis, familial|PAC syndrome|camptodactyly-arthropathy-coxa-vara-pericarditis syndrome|camptodactyly-arthropathy-pericarditis syndrome|familial fibrosing serositis|arthropathy-camptodactyly syndrome|CAP syndrome|pericarditis-arthropathy-camptodactyly syndrome|CACP|congenital familial hypertrophic synovitis|Jacobs syndrome|camptodactyly arthropathy coxa vara pericarditis syndrome|arthropathy camptodactyly syndrome|pericarditis arthropathy camptodactyly syndrome|Cap syndrome|CACP|camptodactyly-arthropathy-coxa vara-pericarditis syndrome|camptodactyly arthropathy pericarditis syndrome|CACP syndrome	http://purl.obolibrary.org/obo/MONDO_0008828	Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.	DOID:0090127|http://identifiers.org/omim/208250|UMLS:C1859690|ORPHA:2848|MESH:C537560
MONDO:0008827	progressive pseudorheumatoid arthropathy of childhood	biolink:Disease	mondo	GARD:0009184|SCTID:254065005|ICD9:756.9|DOID:0090004|OMIM:208230|Orphanet:1159|ICD10:Q77.7|MESH:C535387	ordo_disease	spondyloepiphyseal dysplasia tarda - progressive arthropathy|progressive pseudorheumatoid chondrodysplasia|spondyloepiphyseal dysplasia tarda with progressive arthropathy|PPD|arthropathy, progressive pseudorheumatoid, of childhood|progressive pseudorheumatoid dysplasia|spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome|SEDT-PA|arthropathy, progressive pseudorheumatoid, of childhood; PPAC|PPAC|progressive pseudorheumatoid arthropathy of childhood	http://purl.obolibrary.org/obo/MONDO_0008827	Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED.	MESH:C535387|http://identifiers.org/omim/208230|SNOMEDCT:254065005|ORPHA:1159|DOID:0090004
UBERON:0015001	radius endochondral element	biolink:AnatomicalEntity	mondo			radius skeletal element|radius element	http://purl.obolibrary.org/obo/UBERON_0015001	The major preaxial endrochondral skeletal element in the anterior zeugopod.	
MONDO:0008826	arthrogryposis-hyperkeratosis syndrome, lethal form	biolink:Disease	mondo	MESH:C535883|SCTID:726620005|UMLS:C1859710|Orphanet:1485|GARD:0003053|OMIM:208158	ordo_malformation_syndrome	Johnston Aarons Schelley syndrome|Johnston-Aarons-Schelley syndrome|arthrogryposis with hyperkeratosis|Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns	http://purl.obolibrary.org/obo/MONDO_0008826	Arthrogryposis-hyperkeratosis syndrome, lethal form is an arthrogryposis syndrome, described in two siblings to date, characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993.	http://identifiers.org/omim/208158|MESH:C535883|SNOMEDCT:726620005|UMLS:C1859710|ORPHA:1485
MONDO:0008825	arthrogryposis multiplex congenita-whistling face syndrome	biolink:Disease	mondo	UMLS:C1859711|Orphanet:1150|GARD:0000792|SCTID:720514008|ICD10:Q87.8|MESH:C538401|OMIM:208155	ordo_malformation_syndrome	arthrogryposis multiplex congenita whistling face|Illum syndrome|lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system|arthrogryposis, whistling face, and developmental retardation|arthrogryposis, whistling face, and developintellectual disability|ILLUM syndrome	http://purl.obolibrary.org/obo/MONDO_0008825	Arthrogryposis multiplex congenita-whistling face syndrome is an extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence.	http://identifiers.org/omim/208155|UMLS:C1859711|MESH:C538401|ORPHA:1150|SNOMEDCT:720514008
MONDO:0008824	fetal akinesia deformation sequence	biolink:Disease	mondo	GARD:0009634|DOID:0111375|NCIT:C129071|SCTID:401138005|MESH:C536647|OMIMPS:208150|ICD10:Q87.8|ICD9:754.89	gard_rare|ordo_malformation_syndrome	arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome|arthrogryposis multiplex congenita with pulmonary hypoplasia|FADS|fetal akinesia sequence|fetal akinesia deformation sequence|fetal akinesia deformation sequence; FADS	http://purl.obolibrary.org/obo/MONDO_0008824	Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes.	SNOMEDCT:401138005|NCIT:C129071|DOID:0111375|MESH:C536647
MONDO:0008823	arthrogryposis multiplex congenita 2, neurogenic type	biolink:Disease	mondo	MESH:C536614|Orphanet:1143|GARD:0000790|SCTID:715316005|UMLS:C1859721|OMIM:208100|DOID:0090124|ICD10:Q74.3	ordo_disease	AMC neurogenic type|AMCN|arthrogryposis multiplex congenita neurogenic type|neurogenic arthrogryposis multiplex congenita|neurogenic type of AMC|arthrogryposis multiplex congenita, neurogenic type; AMCN|AMC, neurogenic type|arthrogryposis multiplex congenita, neurogenic type	http://purl.obolibrary.org/obo/MONDO_0008823	Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.	UMLS:C1859721|ORPHA:1143|MESH:C536614|SNOMEDCT:715316005|DOID:0090124|http://identifiers.org/omim/208100
MONDO:0008822	arthrogryposis, renal dysfunction, and cholestasis 1	biolink:Disease	mondo	DOID:0111353|OMIM:208085		arthrogryposis, renal dysfunction, and cholestasis type 1|arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VPS33B|VPS33B arthrogryposis-renal dysfunction-cholestasis syndrome|Arc syndrome|arthrogryposis, renal dysfunction, and cholestasis 1|arthrogryposis, renal dysfunction, and cholestasis 1; ARCS1|ARCS1	http://purl.obolibrary.org/obo/MONDO_0008822	Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene.	DOID:0111353|http://identifiers.org/omim/208085
MONDO:0008821	arthrogryposis, distal, with mental retardation and characteristic facies	biolink:Disease	mondo	UMLS:C1859723|MESH:C565940|OMIM:208081		arthrogryposis, distal, with mental retardation and characteristic facies|arthrogryposis, distal, with intellectual disability and characteristic facies	http://purl.obolibrary.org/obo/MONDO_0008821		UMLS:C1859723|http://identifiers.org/omim/208081|MESH:C565940
UBERON:0015007	cervical vertebra endochondral element	biolink:AnatomicalEntity	mondo			cervical vertebra element|cervical vertebra skeletal element	http://purl.obolibrary.org/obo/UBERON_0015007	A vertebral endochondral element in the cervical region of the vertebral column.	
MONDO:0008820	arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies	biolink:Disease	mondo	MESH:C535385|UMLS:C1859724|OMIM:208080|GARD:0010087		Chitayat-Hall syndrome|arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies|arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies|distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies	http://purl.obolibrary.org/obo/MONDO_0008820		UMLS:C1859724|MESH:C535385|http://identifiers.org/omim/208080
UBERON:0015009	lumbar vertebra endochondral element	biolink:AnatomicalEntity	mondo			lumbar vertebra skeletal element|lumbar vertebra element	http://purl.obolibrary.org/obo/UBERON_0015009	A lumbar vertebra bone or its cartilage or pre-cartilage precursor.	
UBERON:0015008	thoracic vertebra endochondral element	biolink:AnatomicalEntity	mondo			thoracic vertebra skeletal element|thoracic vertebra element	http://purl.obolibrary.org/obo/UBERON_0015008	A vertebral endochondral element in the thoracic region of the vertebral column.	
UBERON:0015003	ulna endochondral element	biolink:AnatomicalEntity	mondo			ulna element|ulna skeletal element	http://purl.obolibrary.org/obo/UBERON_0015003	Major postaxial endrochondral skeletal element in the anterior zeugopod.	
UBERON:0015002	radius-ulna endochondral element	biolink:AnatomicalEntity	mondo			radius-ulna skeletal element|radius-ulna element	http://purl.obolibrary.org/obo/UBERON_0015002	A radius-ulna bone or its cartilage or pre-cartilage precursor.	
UBERON:0015004	tibia endochondral element	biolink:AnatomicalEntity	mondo			tibia skeletal element|tibia element	http://purl.obolibrary.org/obo/UBERON_0015004	The major preaxial endochondral element in the posterior zeugopod[Phenoscape].	
HP:0030764	Ochronosis	biolink:PhenotypicFeature	mondo	MSH:D009794|UMLS:C0028817|SNOMEDCT_US:410042009			http://purl.obolibrary.org/obo/HP_0030764	Brown or blue-gray discoloration of the skin that can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved.	
UBERON:0005689	2nd arch mesenchyme	biolink:AnatomicalEntity	mondo			2nd branchial arch mesenchyme|pharyngeal arch 2 mesenchyme|2nd pharyngeal arch mesenchyme	http://purl.obolibrary.org/obo/UBERON_0005689	Mesenchyme that is part of a pharyngeal arch 2.	
UBERON:0005688	lens vesicle cavity	biolink:AnatomicalEntity	mondo			lens cavity|cavity of lens vesicle|cavity of lens	http://purl.obolibrary.org/obo/UBERON_0005688	An anatomical cavity that is part of a lens vesicle.	
UBERON:0005687	orbitosphenoid cartilage element	biolink:AnatomicalEntity	mondo			sphenoid lesser wing cartilage element	http://purl.obolibrary.org/obo/UBERON_0005687	A orbitosphenoid endochondral element that is composed primarily of cartilage tissue.	
UBERON:0003023	pontine tegmentum	biolink:AnatomicalEntity	mondo			dorsal pons|dorsal portion of pons|pars dorsalis pontis|pars posterior pontis|tegmentum of pons|tegmental portion of pons|tegmentum pontis|tegmentum pontis	http://purl.obolibrary.org/obo/UBERON_0003023	Dorsal portion of the pons, containing cranial nervee nuclei, ascending and descending tracts and reticular nuclei. It is continuous with the reticular formation of the medulla (Carpenter, A Core Text of Neuroanatomy, 3rd ed, 1985, pg 133).	
UBERON:0005686	caecum dorsal mesentery	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005686	A dorsal mesentery that is part of a caecum.	
MONDO:0008819	arteriosclerosis, severe juvenile	biolink:Disease	mondo	UMLS:C1859725|MESH:C565941|OMIM:208060		arteriosclerosis, severe juvenile	http://purl.obolibrary.org/obo/MONDO_0008819		http://identifiers.org/omim/208060|MESH:C565941|UMLS:C1859725
UBERON:0005685	midgut dorsal mesentery	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005685	A dorsal mesentery that is part of a midgut.	
MONDO:0006219	gallbladder small cell neuroendocrine carcinoma	biolink:Disease	mondo	EFO:1000266|NCIT:C6763|UMLS:C1333759|DOID:7133		Oat cell carcinoma of the gallbladder|small cell carcinoma of the gallbladder|small cell carcinoma of gallbladder|gallbladder small cell carcinoma|small cell carcinoma of gall bladder|gallbladder Oat cell carcinoma|gall bladder small cell carcinoma|Oat cell carcinoma of gallbladder|gallbladder small cell neuroendocrine carcinoma|gallbladder small cell NEC	http://purl.obolibrary.org/obo/MONDO_0006219	An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells.	DOID:7133|UMLS:C1333759|NCIT:C6763
UBERON:0015078	proximal carpal endochondral element	biolink:AnatomicalEntity	mondo			proximal carpal element|proximal carpal	http://purl.obolibrary.org/obo/UBERON_0015078	A proximal mesopodial endochondral element that is part of a forelimb.	
MONDO:0006217	gallbladder adenosquamous carcinoma	biolink:Disease	mondo	DOID:5627|NCIT:C7356|ONCOTREE:GBASC|EFO:1000264|UMLS:C1333741		gallbladder adenosquamous cancer|adenosquamous carcinoma of the gallbladder|adenosquamous carcinoma of gallbladder|gallbladder adenosquamous carcinoma|GBASC|gall bladder adenosquamous carcinoma|adenosquamous gallbladder carcinoma	http://purl.obolibrary.org/obo/MONDO_0006217	A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components.	UMLS:C1333741|DOID:5627|NCIT:C7356
MONDO:0008879	Bowen-Conradi syndrome	biolink:Disease	mondo	MESH:C537081|ICD10:Q87.8|OMIM:211180|UMLS:C1859405|DOID:0050684|GARD:0005950|ICD9:759.89|Orphanet:1270|SCTID:711153001	gard_rare|ordo_malformation_syndrome	BWCNS|Bowen-Conradi syndrome|Bowen syndrome, Hutterite type|Bowen-Conradi Hutterite syndrome|Bowen Hutterite syndrome (formerly)|Bowen Hutterite syndrome, formerly|Bowen Hutterite syndrome|Bowen-Conradi syndrome; BWCNS	http://purl.obolibrary.org/obo/MONDO_0008879	Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet.	MESH:C537081|ORPHA:1270|DOID:0050684|http://identifiers.org/omim/211180|SNOMEDCT:711153001|UMLS:C1859405
MONDO:0006218	gallbladder biliary intraepithelial neoplasia	biolink:Disease	mondo	NCIT:C43606|EFO:1000265|UMLS:C1708174		intracystic BilIN|gallbladder biliary intraepithelial neoplasia|gallbladder BilIN|gallbladder intraepithelial neoplasia|gallbladder dysplasia|intracystic biliary intraepithelial neoplasia	http://purl.obolibrary.org/obo/MONDO_0006218	A neoplastic, non-invasive lesion that affects the gallbladder epithelium. It is characterized by the presence of atypical epithelial cells with an increased nuclear/cytoplasmic ratio, nuclear hyperchromasia, and loss of nuclear polarity.	UMLS:C1708174|NCIT:C43606
MONDO:0021851	alopecia universalis onychodystrophy vitiligo	biolink:Disease	mondo	MESH:C537056|GARD:0000615|UMLS:C2931408	gard_rare	alopecia universalis, onychodystrophy, and total vitiligo	http://purl.obolibrary.org/obo/MONDO_0021851	A syndrome characterized by total alopecia (hair loss), total vitíligo, and nail changes. The nail changes consist of fine pitting, associated with softness, and friability and may include horizontal splitting. The vitiligo is characterized by complete, rapid uniform loss of pigment which occurrs without going through a patchy state. The entire cutaneous surface is light and translucent-appearing and is prone to burning on exposure to the sun.	UMLS:C2931408|MESH:C537056
MONDO:0008878	bone dysplasia, lethal Holmgren type	biolink:Disease	mondo	GARD:0000922|OMIM:211120|MESH:C565896|SCTID:732249002|UMLS:C1859407|Orphanet:1842|ICD10:Q77.8	gard_rare|ordo_malformation_syndrome	autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type|bone dysplasia lethal Holmgren type|bone dysplasia, lethal, Holmgren type	http://purl.obolibrary.org/obo/MONDO_0008878	Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988.	ORPHA:1842|MESH:C565896|http://identifiers.org/omim/211120|SNOMEDCT:732249002|UMLS:C1859407
NCBITaxon:7205	Tabanidae	organism taxon	mondo	GC_ID:1		horseflies|deerflies|horseflies and deerflies	http://purl.obolibrary.org/obo/NCBITaxon_7205		
MONDO:0006215	gallbladder adenocarcinoma	biolink:Disease	mondo	NCIT:C9166|DOID:3500|UMLS:C0279651|EFO:1000262		gallbladder adenocarcinoma|gall bladder adenocarcinoma|adenocarcinoma of the gallbladder|adenocarcinoma of gallbladder	http://purl.obolibrary.org/obo/MONDO_0006215	A carcinoma that arises from glandular epithelial cells of the gall bladder.	UMLS:C0279651|NCIT:C9166|DOID:3500
MONDO:0006216	gallbladder adenoma	biolink:Disease	mondo	NCIT:C7720|EFO:1000263|DOID:0050893|UMLS:C0238137		adenoma of the gallbladder|adenoma of gallbladder|gallbladder adenoma|gall bladder adenoma	http://purl.obolibrary.org/obo/MONDO_0006216	A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary.	UMLS:C0238137|DOID:0050893|NCIT:C7720
MONDO:0008877	blue diaper syndrome	biolink:Disease	mondo	Orphanet:94086|OMIM:211000|MESH:C536239|ICD10:E70.8|SCTID:59531002|UMLS:C0268478|GARD:0005939	gard_rare|ordo_disease	familial hypercalcemia-nephrocalcinosis-indicanuria syndrome|hypercalcemia, familial, with nephrocalcinosis and indicanuria|blue diaper syndrome|Drummond syndrome	http://purl.obolibrary.org/obo/MONDO_0008877	Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria.	SNOMEDCT:59531002|MESH:C536239|ORPHA:94086|http://identifiers.org/omim/211000|UMLS:C0268478
MONDO:0006213	floor of mouth mucoepidermoid carcinoma	biolink:Disease	mondo	NCIT:C8178|EFO:1000260|UMLS:C0280310		mouth floor mucoepidermoid carcinoma|mucoepidermoid carcinoma of floor of mouth|mucoepidermoid carcinoma of the floor of mouth	http://purl.obolibrary.org/obo/MONDO_0006213	A mucoepidermoid carcinoma of the oral cavity that arises from the floor of the mouth.	NCIT:C8178|UMLS:C0280310
MONDO:0008876	Bloom syndrome	biolink:Disease	mondo	ICD10:Q82.2|Orphanet:125|SCTID:4434006|ICD9:757.39|MESH:D001816|NCIT:C2903|OMIM:210900|DOID:2717|UMLS:C0005859|GARD:0000915	ordo_disease|gard_rare	congenital telangiectatic erythema syndrome|microcephaly, growth restriction, and increased sister chromatid exchange 1|congenital telangiectatic erythema|growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability|BLS|Bloom syndrome; BLM|Bloom syndrome|Bloom-Torre-Machacek syndrome|BSyn|BS|BLM|MGRISCE1	http://purl.obolibrary.org/obo/MONDO_0008876	Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.	ORPHA:125|NCIT:C2903|MESH:D001816|SNOMEDCT:4434006|DOID:2717|UMLS:C0005859|http://identifiers.org/omim/210900
MONDO:0008875	blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome	biolink:Disease	mondo	SCTID:717914000|OMIM:210745|ICD10:Q87.8|Orphanet:2057|MESH:C536235|GARD:0000905	ordo_malformation_syndrome	Frydman-Cohen-Karmon syndrome|blepharophimosis with ptosis, syndactyly, and short stature|blepharophimosis - ptosis - esotropia - syndactyly - short stature|Frydman Cohen Karmon syndrome	http://purl.obolibrary.org/obo/MONDO_0008875	Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive.	SNOMEDCT:717914000|MESH:C536235|http://identifiers.org/omim/210745|UMLS:C1859432|ORPHA:2057
MONDO:0006214	follicular variant thyroid gland papillary carcinoma	biolink:Disease	mondo	NCIT:C126594|UMLS:C3714651|EFO:1000261		FVPTC	http://purl.obolibrary.org/obo/MONDO_0006214	A nonencapsulated variant of papillary carcinoma of the thyroid gland characterized by the predominance of follicular structures. The malignant follicular cells display the nuclear features that characterize the papillary adenocarcinomas of the thyroid gland.	UMLS:C3714651|NCIT:C126594
UBERON:0003091	thyroid primordium	biolink:AnatomicalEntity	mondo			thyroid primordia	http://purl.obolibrary.org/obo/UBERON_0003091	The initial thyroid precursor, the thyroid primordium, starts as a simple midline thickening and develops to form the thyroid diverticulum. This structure is initially hollow, although it later solidifies and becomes bilobed. The 2 lobes are located on either side of the midline and are connected via an isthmus.	
MONDO:0008874	Bangstad syndrome	biolink:Disease	mondo	UMLS:C0342284|SCTID:237614004|ICD10:E31.8|OMIM:210740|ICD9:759.89|Orphanet:1227|MESH:C537902|GARD:0000812	gard_rare|ordo_malformation_syndrome	Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency|Bangstad syndrome|ataxia-diabetes-goiter-gonadal insufficiency syndrome|Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter and primary gonadal insufficiency	http://purl.obolibrary.org/obo/MONDO_0008874	Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989.	ORPHA:1227|MESH:C537902|UMLS:C0342284|SNOMEDCT:237614004|http://identifiers.org/omim/210740
MONDO:0006211	fibrous hamartoma of infancy	biolink:Disease	mondo	EFO:1000257|ICD9:215.9|NCIT:C3942|UMLS:C0265979|SCTID:56364004		fibrous hamartoma|fibrous hamartoma of infancy|infantile fibrous hamartoma	http://purl.obolibrary.org/obo/MONDO_0006211	A poorly circumscribed neoplasm arising from the soft tissues in infants. It is characterized by the presence of bland fibroblastic spindle cells, collagenous stroma formation, primitive mesenchymal round cells, and mature fat cells. These components combined form a distinct organoid pattern.	NCIT:C3942|UMLS:C0265979|SNOMEDCT:56364004
MONDO:0008873	microcephalic osteodysplastic primordial dwarfism, type 3	biolink:Disease	mondo	UMLS:C1859439|MESH:C537320|OMIM:210730		microcephalic osteodysplastic primordial dwarfism, type III|microcephalic osteodysplastic primordial dwarfism, Caroline Crachami type|Mopd, Caroline Crachami type|Mopd 3|osteodysplastic primordial dwarfism, type 3|Mopd, Sicilian fairy type|microcephalic osteodysplastic primordial dwarfism, Sicilian fairy type	http://purl.obolibrary.org/obo/MONDO_0008873		MESH:C537320|http://identifiers.org/omim/210730|UMLS:C1859439
MONDO:0006212	flat urothelial hyperplasia	biolink:Disease	mondo	NCIT:C27878|EFO:1000259		flat urothelial hyperplasia	http://purl.obolibrary.org/obo/MONDO_0006212	A type of hyperplasia that is characterized by a marked thickening of the urinary tract epithelium. There is no evidence of cytologic atypia. -- 2003	NCIT:C27878
MONDO:0008872	microcephalic osteodysplastic primordial dwarfism type II	biolink:Disease	mondo	SCTID:254103003|ICD10:Q87.1|Orphanet:2637|DOID:0060609|GARD:0009844|OMIM:210720|MESH:C565898	ordo_malformation_syndrome|gard_rare	microcephalic osteodysplastic primordial dwarfism type 2|microcephalic osteodysplastic primordial dwarfism, type II; MOPD2|osteodysplastic primordial dwarfism type II|MOPD2|Mopd 2|microcephalic osteodysplastic primordial dwarfism, type 2|microcephalic osteodysplastic primordial dwarfism with tooth abnormalities|microcephalic osteodysplastic primordial dwarfism, type II|MOPD II|osteodysplastic primordial dwarfism, type 2|osteodysplastic primordial dwarfism type 2|Majewski osteodysplastic primordial dwarfism type II|MOPD type II	http://purl.obolibrary.org/obo/MONDO_0008872	'Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.'	ORPHA:2637|MESH:C565898|DOID:0060609|SNOMEDCT:254103003|http://identifiers.org/omim/210720
MONDO:0006210	fibrolamellar hepatocellular carcinoma	biolink:Disease	mondo	EFO:1000256|GARD:0009396|SCTID:253018005|MESH:C537258|Orphanet:401920|DOID:5015|ICD10:C22.0|ICDO:8171/3|NCIT:C4131|ONCOTREE:FLC|UMLS:C0334287	ordo_disease	fibrolamellar carcinoma of liver cells|liver cell fibrolamellar carcinoma|hepatocellular carcinoma, fibrolamellar|fibrolamellar hepatocellular carcinoma|FHCC|eosinophilic hepatocellular carcinoma with lamellar fibrosis|oncocytic hepatocellular tumor|fibrolamellar carcinoma|fibrolamellar variant of hepatocellular carcinoma|fibrolamellar hepatocarcinoma|FLC|polygonal cell hepatocellular carcinoma with fibrous stroma|hepatocellular fibrolamellar carcinoma|fibrolamellar oncocytic hepatoma|hepatocellular carcinoma (fibrolamellar variant)|eosinophilic glassy cell hepatoma|hepatocellular carcinoma with increased stromal fibrosis|FL-HCC|polygonal cell type hepatocellular carcinoma with fibrous Stroma|fibrolamellar cancer|fibrolamellar carcinoma of the liver cells	http://purl.obolibrary.org/obo/MONDO_0006210	A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers.	ORPHA:401920|DOID:5015|MESH:C537258|NCIT:C4131|UMLS:C0334287|SNOMEDCT:253018005
MONDO:0008871	microcephalic osteodysplastic primordial dwarfism type I	biolink:Disease	mondo	DOID:0060608|OMIM:210710|SCTID:254102008|ICD10:Q87.1		osteodysplastic primordial dwarfism type I|Taybi-Linder syndrome|low-birth-weight dwarfism with skeletal dysplasia|cephaloskeletal dysplasia|low-birth-weight dwarfism with skeletal dysplasia|MOPD1|microcephalic osteodysplastic primordial dwarfism, type I|microcephalic osteodysplastic primordial dwarfism, type I; MOPD1|Cephaloskeletal dysplasia|MOPD 1|microcephalic osteodysplastic primordial dwarfism, type 1|brachymelic primordial dwarfism|osteodysplastic primordial dwarfism, type 1|Brachymelic primordial dwarfism	http://purl.obolibrary.org/obo/MONDO_0008871	A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits.	DOID:0060608|SNOMEDCT:254102008|http://identifiers.org/omim/210710
UBERON:0015079	proximal carpal cartilage	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015079	A proximal carpal endochondral element that is composed primarily of cartilage tissue.	
MONDO:0008870	bird headed-dwarfism, Montreal type	biolink:Disease	mondo	ICD10:Q87.1|OMIM:210700|UMLS:C1859468|GARD:0000895|Orphanet:2617|MESH:C535448	ordo_malformation_syndrome	Bird-headed dwarfism, Montreal type|premature senility, premature graying and loss of scalp hair and wrinkled skin of the palms|Bird-headed dwarfism with features of premature senility|microcephalic primordial dwarfism, Montreal type	http://purl.obolibrary.org/obo/MONDO_0008870	Microcephalic primordial dwarfism, Montreal type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.	MESH:C535448|UMLS:C1859468|http://identifiers.org/omim/210700|ORPHA:2617
UBERON:0003098	optic stalk	biolink:AnatomicalEntity	mondo			pedunculus opticus|optic stalks	http://purl.obolibrary.org/obo/UBERON_0003098	the narrow, proximal portion of the optic vesicle which connects the embryonic eye and forebrain	
MONDO:0018209	Alexander disease type I	biolink:Disease	mondo	ICD10:E75.2|Orphanet:363717|UMLS:CN204729	ordo_clinical_subtype	AxD type I	http://purl.obolibrary.org/obo/MONDO_0018209	Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration.	UMLS:CN204729|ORPHA:363717
UBERON:0003099	cranial neural crest	biolink:AnatomicalEntity	mondo			head crest|head neural crest|crista neuralis cranialis|head NCC population|CNC|cephalic neural crest|cranial NCC population	http://purl.obolibrary.org/obo/UBERON_0003099	neural crest cells (NCCs) originating in the anterior part of the developing embryo and residing between the mid-diencephalon and the forming hindbrain; cranial NCCs migrate dorsolaterally to form the craniofacial mesenchyme that differentiates into various craniofacial cartilages and bones, cranial neurons, glia, and connective tissues of the face; these cells enter the pharyngeal pouches and arches where they give rise to thymic cells, bones of the middle ear and jaw (mandible), and the odontoblasts of the tooth primordia; like their counterparts in the trunk, cranial NCCs also contribute to the developing peripheral nervous system, along with the pigmented cell (i.e. melanocyte) lineage.	
HGNC:1260	CFAP410	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1260		
MONDO:0018206	childhood-onset autosomal recessive myopathy with external ophthalmoplegia	biolink:Disease	mondo	Orphanet:363677|ICD10:G71.2	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018206		ORPHA:363677
MONDO:0018205	distal monosomy 1q	biolink:Disease	mondo	UMLS:C4273897|SCTID:717633007|ICD10:Q93.5|Orphanet:36367	ordo_malformation_syndrome	monosomy 1qter|distal monosomy type 1q|distal deletion 1q|telomeric deletion 1q	http://purl.obolibrary.org/obo/MONDO_0018205	1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.	UMLS:C4273897|ORPHA:36367|SNOMEDCT:717633007
MONDO:0018208	neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	biolink:Disease	mondo	DOID:0111253|UMLS:CN204726|Orphanet:363700|ICD10:Q85.0	ordo_etiological_subtype	Von Recklinghausen disease due to NF1 mutation or intragenic deletion	http://purl.obolibrary.org/obo/MONDO_0018208		ORPHA:363700|DOID:0111253|UMLS:CN204726
MONDO:0018207	2p13.2 microdeletion syndrome	biolink:Disease	mondo	UMLS:CN204723|Orphanet:363680|ICD10:Q93.5	ordo_malformation_syndrome	Del(2)(p13.2)	http://purl.obolibrary.org/obo/MONDO_0018207	2p13.2 microdeletion syndrome is a rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.	ORPHA:363680|UMLS:CN204723
MONDO:0018202	gonadal germ cell tumor	biolink:Disease	mondo	UMLS:CN204712|Orphanet:363582	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018202		ORPHA:363582|UMLS:CN204712
MONDO:0018201	extragonadal germ cell tumor	biolink:Disease	mondo	UMLS:CN204711|NCIT:C3918|GARD:0009325|UMLS:C0262963|Orphanet:363579	ordo_group_of_disorders	extragonadal GCT, NOS|tumor of extragonadal germ cell|tumor of the extragonadal germ cell|neoplasm of extragonadal germ cell|neoplasm of the extragonadal germ cell|extragonadal germ cell tumor|extragonadal germ cell tumors, NOS|primary extragonadal germ cell tumor|extragonadal germ cell neoplasm|extragonadal germ cell neoplasms	http://purl.obolibrary.org/obo/MONDO_0018201	A germ cell tumor arising in an anatomic site other than the testis or ovary (e.g., central nervous system, lung, mediastinum, and retroperitoneum).	ORPHA:363579|UMLS:C0262963|UMLS:CN204711|NCIT:C3918
MONDO:0021845	Aloi Tomasini Isaia syndrome	biolink:Disease	mondo	MESH:C537049|GARD:0000417|UMLS:C2931405	n_of_one|gard_rare	unilateral linear basal cell nevus associated with diffuse osteoma cutis, unilateral anodontia, and abnormal bone mineralization|basal cell nevus, anodontia, abnormal bone mineralization	http://purl.obolibrary.org/obo/MONDO_0021845	A syndrome characterized by a unilateral linear basal cell nevus, diffuse osteoma cutis, unilateral anodontia (missing teeth), and abnormal bone mineralization.	UMLS:C2931405|MESH:C537049
MONDO:0018204	20q11.2 microduplication syndrome	biolink:Disease	mondo	ICD10:Q93.5|SCTID:763061004|UMLS:CN204718|Orphanet:363659	ordo_malformation_syndrome	dup(20)(q11.2)	http://purl.obolibrary.org/obo/MONDO_0018204	20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features.	ORPHA:363659|SNOMEDCT:763061004|UMLS:CN204718
MONDO:0018203	LMNA-related cardiocutaneous progeria syndrome	biolink:Disease	mondo	UMLS:CN204714|Orphanet:363618|ICD10:E34.8	ordo_disease	LCPS	http://purl.obolibrary.org/obo/MONDO_0018203	A rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies.	ORPHA:363618|UMLS:CN204714
HGNC:1268	TSPEAR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1268		
MONDO:0021849	alopecia macular degeneration growth retardation syndome	biolink:Disease	mondo	GARD:0000610|DOID:0111649	gard_rare	alopecia, macular degeneration, and growth retardation|alopecia macular degeneration growth retardation	http://purl.obolibrary.org/obo/MONDO_0021849		DOID:0111649
MONDO:0018200	obsolete acute encephalopathy with inflammation-mediated status epilepticus	biolink:Disease	mondo	Orphanet:363567	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018200		ORPHA:363567
UBERON:0015064	autopod cartilage	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015064	A autopod endochondral element that is composed primarily of cartilage tissue.	
MONDO:0006228	gastric papillary adenocarcinoma	biolink:Disease	mondo	EFO:1000276|ONCOTREE:PSTAD|NCIT:C5472|UMLS:C1333785|DOID:5593		papillary stomach adenocarcinoma|papillary adenocarcinoma of the stomach|gastric papillary adenocarcinoma|stomach papillary adenocarcinoma|papillary adenocarcinoma of stomach	http://purl.obolibrary.org/obo/MONDO_0006228	A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores.	UMLS:C1333785|DOID:5593|NCIT:C5472
UBERON:0015061	limb endochondral element	biolink:AnatomicalEntity	mondo			limb bone endochondral element|limb bone skeletal element	http://purl.obolibrary.org/obo/UBERON_0015061	A limb bone or its cartilage or pre-cartilage precursor.	
MONDO:0006229	gastric small cell neuroendocrine carcinoma	biolink:Disease	mondo	UMLS:C1333788|EFO:1000277|NCIT:C6764|ONCOTREE:STSC|DOID:6552		gastric small cell neuroendocrine carcinoma|small cell carcinoma of the stomach|gastric small cell carcinoma|Oat cell carcinoma of the stomach|Oat cell carcinoma of stomach|gastric Oat cell carcinoma|STSC|stomach small cell carcinoma|small cell carcinoma of stomach	http://purl.obolibrary.org/obo/MONDO_0006229	An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells.	DOID:6552|UMLS:C1333788|NCIT:C6764
UBERON:0015060	sphenoid endochondral element	biolink:AnatomicalEntity	mondo			sphenoid bone skeletal element|sphenoid element	http://purl.obolibrary.org/obo/UBERON_0015060	A sphenoid bone or its cartilage or pre-cartilage precursor.	
MONDO:0006226	gastric mucosa-associated lymphoid tissue lymphoma	biolink:Disease	mondo	EFO:1000274|UMLS:C1333782|NCIT:C5266		gastric MALToma|MALToma of the stomach|MALToma of stomach|gastric mucosa-associated lymphoid tissue lymphoma|primary gastric MALT lymphoma|gastric MALT lymphoma|MALT lymphoma of the stomach|MALT lymphoma of stomach|primary MALT lymphoma of the stomach|primary MALT lymphoma of stomach|primary gastric B-cell MALT lymphoma|stomach MALT lymphoma	http://purl.obolibrary.org/obo/MONDO_0006226	A low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy.	UMLS:C1333782|NCIT:C5266
MONDO:0008889	thromboangiitis obliterans	biolink:Disease	mondo	SCTID:52403007|MESH:D013919|MedDRA:10043540|EFO:1001211|ICD10:I73.1|GARD:0005969|OMIM:211480|DOID:12918|NCIT:C35070|COHD:312939|Orphanet:36258|UMLS:C0040021|ICD9:443.1	ordo_disease	inflammatory occlusive peripheral vascular disease|TAO|presenile gangrene|BUERGER disease|thromboangiitis obliterans|Buerger's disease|occlusive peripheral vascular disease|thromboangiitis obliterans [Buerger's disease]	http://purl.obolibrary.org/obo/MONDO_0008889	Buerger disease, also known as thromboangiitis obliterans (TAO), is a rare inflammatory non-necrotizing vascular disease affecting the small- and medium-sized arteries and veins of the upper and lower extremities characterized by endarteritis and vaso-occlusion due to occlusive thrombus development. The development and progression of the disease is consistently associated with exposure to tobacco.	UMLS:C0040021|MESH:D013919|ORPHA:36258|DOID:12918|http://identifiers.org/omim/211480|SNOMEDCT:52403007|NCIT:C35070
UBERON:0015063	autopod endochondral element	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015063	A endochondral element that is part of a autopod region.	
MONDO:0008888	Williams-Campbell syndrome	biolink:Disease	mondo	GARD:0007791|ICD9:748.3|Orphanet:411501|OMIM:211450|ICD10:Q33.4|SCTID:54203008	ordo_morphological_anomaly	BRONCHOMALACIA|Williams-Campbell syndrome|tracheobronchomalacia	http://purl.obolibrary.org/obo/MONDO_0008888		ORPHA:411501|SNOMEDCT:54203008|http://identifiers.org/omim/211450
MONDO:0006227	gastric neuroendocrine tumor G1	biolink:Disease	mondo	EFO:1000275|NCIT:C4635|UMLS:C0349529		gastric NET G1|stomach carcinoid tumor|gastric ECL cell NET G1|stomach neuroendocrine neoplasm G1|gastric ECL cell, histamine-producing NET|stomach carcinoid tumor|gastric carcinoid tumor|gastric ECL-cell carcinoid tumor|stomach NET G1|gastric enterochromaffin-like cell carcinoid tumor|gastric enterochromaffin-like cell neuroendocrine tumor|grade 1 neuroendocrine neoplasm of stomach|gastric ECL cell NET|stomach neuroendocrine tumor, well differentiated, low grade	http://purl.obolibrary.org/obo/MONDO_0006227	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the stomach. The vast majority of cases arise from the corpus-fundus region. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. It may be associated with autoimmune chronic atrophic gastritis, multiple endocrine neoplasia type 1, or it may be sporadic.	UMLS:C0349529|NCIT:C4635
MONDO:0008887	bronchiectasis with or without elevated sweat chloride 1	biolink:Disease	mondo	UMLS:C2749757|MESH:C567618|DOID:0080526|OMIM:211400		bronchiectasis with or without elevated sweat chloride type 1|cystic fibrosis-like syndrome|BESC1|bronchiectasis with or without elevated sweat chloride 1; BESC1|bronchiectasis with or without elevated sweat chloride 1	http://purl.obolibrary.org/obo/MONDO_0008887		MESH:C567618|DOID:0080526|UMLS:C2749757|http://identifiers.org/omim/211400
MONDO:0006224	gastric hamartomatous polyp	biolink:Disease	mondo	UMLS:C0341225|EFO:1000271|SCTID:235685007|NCIT:C4373		gastric hamartomatous polyp|hamartoma of the stomach|hamartoma of stomach|stomach hamartoma (disease)	http://purl.obolibrary.org/obo/MONDO_0006224	A non-neoplastic polyp that arises from the stomach and is characterized by the presence of connective tissue stroma overgrowth and cystic formations.	SNOMEDCT:235685007|UMLS:C0341225|NCIT:C4373
MONDO:0006225	gastric mantle cell lymphoma	biolink:Disease	mondo	NCIT:C27440|UMLS:C1333780|EFO:1000272		mantle cell lymphoma of the stomach|mantle cell lymphoma of stomach|gastric mantle cell lymphoma|stomach mantle cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0006225	A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course.	UMLS:C1333780|NCIT:C27440
MONDO:0008886	Sabinas brittle hair syndrome	biolink:Disease	mondo	GARD:0000313|OMIM:211390|Orphanet:3123|MESH:C536320|UMLS:C0796271	gard_rare	Sabinas brittle hair syndrome|Sabinas syndrome|brittle hair and mental Deficit|brittle hair syndrome, Sabinas type	http://purl.obolibrary.org/obo/MONDO_0008886		MESH:C536320|http://identifiers.org/omim/211390|ORPHA:3123|UMLS:C0796271
UBERON:0003080	anterior neural tube	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0003080		
MONDO:0008885	Elsahy-Waters syndrome	biolink:Disease	mondo	GARD:0000955|OMIM:211380|Orphanet:157788|ICD10:Q87.8|MESH:C566373|OMIM:603463|Orphanet:1299|UMLS:C1863870|MESH:C537084|DOID:0080631|SCTID:719097002	ordo_malformation_syndrome	brachioskeletogenital syndrome|branchio-skeleto-genital syndrome|ELSAHY-Waters syndrome; ESWS|Elsahy-Waters syndrome|hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss|hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss|ESWS|hypospadias-hypertelorism-coloboma and deafness syndrome|BSG syndrome	http://purl.obolibrary.org/obo/MONDO_0008885	An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971.	MESH:C566373|DOID:0080631|ORPHA:157788|http://identifiers.org/omim/211380|http://identifiers.org/omim/603463|SNOMEDCT:719097002|UMLS:C1859384|UMLS:C1863870|MESH:C537084|ORPHA:1299
MONDO:0006222	gastric choriocarcinoma	biolink:Disease	mondo	NCIT:C95749|UMLS:C2987398|EFO:1000269		gastric choriocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006222	A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases.	UMLS:C2987398|NCIT:C95749
MONDO:0008884	oculoosteocutaneous syndrome	biolink:Disease	mondo	OMIM:211370|SCTID:722061006|MESH:C565893|UMLS:C1859385|ICD10:Q87.5|Orphanet:2713	ordo_malformation_syndrome	anodontia-hypotrichosis syndrome|oculoosteocutaneous syndrome|BRACHYMETAPODY-anodontia-hypotrichosis-ALBINOIDISM	http://purl.obolibrary.org/obo/MONDO_0008884	Oculoosteocutaneous syndrome is characterised by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive.	SNOMEDCT:722061006|MESH:C565893|http://identifiers.org/omim/211370|UMLS:C1859385|ORPHA:2713
MONDO:0006223	gastric diffuse large B-cell lymphoma	biolink:Disease	mondo	EFO:1000270|UMLS:C1335483|NCIT:C5253		primary diffuse large B-cell lymphoma of the stomach|primary diffuse large B-cell lymphoma of stomach|primary gastric diffuse large B-cell lymphoma|gastric diffuse large B-cell lymphoma|primary diffuse large B-cell gastric lymphoma	http://purl.obolibrary.org/obo/MONDO_0006223	An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach.	NCIT:C5253|UMLS:C1335483
MONDO:0006220	gallbladder squamous cell carcinoma	biolink:Disease	mondo	DOID:5535|UMLS:C0279658|NCIT:C9170|EFO:1000267		epidermoid gallbladder carcinoma|epidermoid carcinoma of the gallbladder|epidermoid carcinoma of gallbladder|gall bladder squamous cell carcinoma|gallbladder squamous cell carcinoma|squamous cell gallbladder carcinoma|gallbladder squamous cell cancer|squamous cell carcinoma of the gallbladder|squamous cell carcinoma of gallbladder	http://purl.obolibrary.org/obo/MONDO_0006220	A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells.	DOID:5535|NCIT:C9170|UMLS:C0279658
MONDO:0008883	brachydactyly, type A2, with microcephaly	biolink:Disease	mondo	MESH:C565894|OMIM:211369|UMLS:C1859393		brachydactyly, type A2, with microcephaly	http://purl.obolibrary.org/obo/MONDO_0008883		MESH:C565894|http://identifiers.org/omim/211369|UMLS:C1859393
MONDO:0006221	gastric adenoma	biolink:Disease	mondo	NCIT:C7699|UMLS:C0149826|EFO:1000268		adenoma of stomach|stomach adenoma|gastric adenoma|adenoma of the stomach	http://purl.obolibrary.org/obo/MONDO_0006221	A neoplastic polyp that arises from the stomach. This category includes intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps.	NCIT:C7699|UMLS:C0149826
MONDO:0008882	congenital bowing of long bones	biolink:Disease	mondo	ICD10:Q68.5|ICD10:Q68.4|ICD10:Q68.3|Orphanet:2292|OMIM:211355|GARD:0000953|SCTID:716098006|ICD10:Q68.8|MedDRA:10054064	gard_rare|ordo_morphological_anomaly	bowing of long bones congenital|bowing of long bones, asymmetric and symmetric	http://purl.obolibrary.org/obo/MONDO_0008882	Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae.	UMLS:C1096546|SNOMEDCT:716098006|http://identifiers.org/omim/211355|MEDDRA:10054064|ORPHA:2292
FOODON:00002131	plant based refined or partially-refined food product	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00002131		
MONDO:0008881	kyphomelic dysplasia	biolink:Disease	mondo	UMLS:C0432239|SCTID:254096001|GARD:0010149|ICD9:733.29|OMIM:211350|MESH:C538128|Orphanet:1801	gard_rare|ordo_malformation_syndrome	bowing, congenital, with short bones|kyphomelic dysplasia|congenital bowing with short bones	http://purl.obolibrary.org/obo/MONDO_0008881	Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized bythe following: a disproportionately short stature with a short narrow chest,shortening and bending (bowing)of the limbs, flared irregular metaphyses of the bones, and characteristicfacial features.Bone changes are said to improve with age.Kyphomelic dysplasia is inherited in an autosomal recessive pattern. Recent studies indicate that Kyphomelic dysplasia is no longerconsidered it's ownentity and that individual cases should be further evaluated andre-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome.	ORPHA:1801|UMLS:C0432239|http://identifiers.org/omim/211350|SNOMEDCT:254096001|MESH:C538128
MONDO:0008880	Bowen syndrome of multiple malformations	biolink:Disease	mondo	Orphanet:1271|MESH:C538164|OMIM:211200|UMLS:C1859404		Bowen syndrome of multiple malformations|Bowen syndrome	http://purl.obolibrary.org/obo/MONDO_0008880		http://identifiers.org/omim/211200|UMLS:C1859404|MESH:C538164|ORPHA:1271
UBERON:0003086	caudal artery	biolink:AnatomicalEntity	mondo			CA	http://purl.obolibrary.org/obo/UBERON_0003086	Extension of the dorsal aorta in the tail.	
UBERON:0003083	trunk neural crest	biolink:AnatomicalEntity	mondo			TNC|trunk crest	http://purl.obolibrary.org/obo/UBERON_0003083	Trunk portion of the neural crest. The trunk neural crest lies between the vagal and sacral neural crest and gives rise to two groups of cells. One group migrates dorsolateral and populates the skin, forming pigment cells and the other migrates ventrolateral through the anterior sclerotome to become the epinephrine-producing cells of the adrenal gland and the neurons of the sympathetic nervous system. Some cells remain in the sclerotome to form the dorsal root ganglia [Wikipedia].	
UBERON:0003084	heart primordium	biolink:AnatomicalEntity	mondo			cardiac field|fused heart primordium	http://purl.obolibrary.org/obo/UBERON_0003084	Bilateral groups of cells consisting of three rows: one row of endocardial precursors medially and two rows of myocardical precursors laterally. The two populations fuse at the midline to form the heart rudiment or cone.	
UBERON:0003081	lateral plate mesoderm	biolink:AnatomicalEntity	mondo			mesoderma laminae lateralis|LPM|lateral mesoderm|lateral plate|lateral plate mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003081	Portion of the middle of the three primary germ layers of the embryo that resides on the periphery of the embryo, is continuous with the extra-embryonic mesoderm, splits into two layers enclosing the intra-embryonic coelom, and gives rise to body wall structures[MP].	
UBERON:0003082	myotome	biolink:AnatomicalEntity	mondo			myomere|myotome region|myotomus|myotomes|myomeres|muscle plate	http://purl.obolibrary.org/obo/UBERON_0003082	A transitional population of migrating mesenchymal cells that derive from somites and that will become muscle cells.	
MONDO:0021834	Akaba Hayasaka syndrome	biolink:Disease	mondo	GARD:0000577|MESH:C535609|UMLS:C2930948	gard_rare	frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia	http://purl.obolibrary.org/obo/MONDO_0021834	A syndrome characterized by frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia.	MESH:C535609|UMLS:C2930948
MONDO:0021836	Aksu von Stockhausen syndrome	biolink:Disease	mondo	MESH:C535611|GARD:0000579	n_of_one|gard_rare	hereditary branchial arch defects|aksu von stockhausen syndrome	http://purl.obolibrary.org/obo/MONDO_0021836	A syndrome characterized by a malformations of the neck due to a branchial arch defect. In the neonatal period the following signs were noted: symmetrical preauricular pits, retroauricular additional rudimentary auricles, a blindly ending coccygeal groove, microstomia and papillomata of the hypopharynx.	MESH:C535611
MONDO:0021838	Al Gazali Khidr Prem Chandran syndrome	biolink:Disease	mondo	GARD:0000586|UMLS:C2930951|MESH:C535616	n_of_one|gard_rare	cherubism, optic atrophy and short stature	http://purl.obolibrary.org/obo/MONDO_0021838	A disease characterized by cherubism (disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths.), visual impairment due to optic atrophy and short stature.	MESH:C535616|UMLS:C2930951
UBERON:0003089	sclerotome	biolink:AnatomicalEntity	mondo			sclerotomes|sclerotomus	http://purl.obolibrary.org/obo/UBERON_0003089	Ventral somitic compartment that is a precursor of the axial skeleton[XAO]. Sclerotomes eventually differentiate into the vertebrae and most of the skull. The caudal (posterior) half of one sclerotome fuses with the rostral (anterior) half of the adjacent one to form each vertebra. From their initial location within the somite, the sclerotome cells migrate medially towards the notochord. These cells meet the sclerotome cells from the other side to form the vertebral body. From this vertebral body, sclerotome cells move dorsally and surround the developing spinal cord, forming the vertebral arch[WP].	
MONDO:0021839	spirochaetales infections	biolink:Disease	mondo	UMLS:C0037974|MESH:D013145|GARD:0007682	gard_rare	Infection, Spirochaetales|Infections, Spirochaetales|Infection, Spirochete|Spirochaetales Infection|Spirochetosis|Spirochetal infection|SPIROCHETE INFECT|Infections, Spirochete|Spirochete Infection|SPIROCHAETALES INFECT|Spirochaetales Infections|Spirochete Infections|INFECT SPIROCHAETALES|INFECT SPIROCHETE	http://purl.obolibrary.org/obo/MONDO_0021839	Infections with bacteria of the order SPIROCHAETALES.	MESH:D013145|UMLS:C0037974
UBERON:0015054	iliac endochondral element	biolink:AnatomicalEntity	mondo			iliac element|iliac skeletal element	http://purl.obolibrary.org/obo/UBERON_0015054	A iliac bone or its cartilage or pre-cartilage precursor.	
UBERON:0015053	humerus endochondral element	biolink:AnatomicalEntity	mondo			humerus skeletal element|humerus element	http://purl.obolibrary.org/obo/UBERON_0015053	A humerus bone or its cartilage or pre-cartilage precursor.	
OBO:chebi#has_parent_hydride	has parent hydride	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/chebi#has_parent_hydride		
UBERON:0015056	ischial endochondral element	biolink:AnatomicalEntity	mondo			ischial skeletal element|ischial element	http://purl.obolibrary.org/obo/UBERON_0015056	A ischial bone or its cartilage or pre-cartilage precursor.	
MONDO:0008859	berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification	biolink:Disease	mondo	GARD:0008552|UMLS:C1859519|OMIM:210050|MESH:C565905	gard_rare	berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification|cerebral aneurysm-cirrhosis syndrome	http://purl.obolibrary.org/obo/MONDO_0008859		http://identifiers.org/omim/210050|UMLS:C1859519|MESH:C565905
UBERON:0015055	pubic endochondral element	biolink:AnatomicalEntity	mondo			pubic element|pubic skeletal element	http://purl.obolibrary.org/obo/UBERON_0015055	A pubic bone or its cartilage or pre-cartilage precursor.	
MONDO:0008858	Behr syndrome	biolink:Disease	mondo	OMIM:210000|MESH:C537669|SCTID:718221007|DOID:0111580|UMLS:C0221061|ICD10:H35.5|Orphanet:1239|GARD:0000849	gard_rare|ordo_malformation_syndrome	optic atrophy, infantile hereditary, with neurologic abnormalities|Behr syndrome; BEHRS|BEHRS|optic atrophy in early childhood, associated with ataxia, spasticity, intellectual disability, and posterior column sensory loss|Behr syndrome|optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss|optic atrophy, infantile hereditary, Behr complicated form of	http://purl.obolibrary.org/obo/MONDO_0008858	Behr syndrome is a disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient.	SNOMEDCT:718221007|ORPHA:1239|MESH:C537669|DOID:0111580|UMLS:C0221061|http://identifiers.org/omim/210000
UBERON:0015050	tarsus endochondral element	biolink:AnatomicalEntity	mondo			tarsus skeletal element|tarsus element	http://purl.obolibrary.org/obo/UBERON_0015050	A tarsus bone or its cartilage or pre-cartilage precursor.	
GO:0102175	3-beta-hydroxysteroid dehydrogenase/C4-decarboxylase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0102175	Catalysis of the reaction: a 3beta-hydroxysteroid-4alpha-carboxylate + NAD(+) = a 3-oxosteroid + CO2 + NADH.	
MONDO:0008857	Beemer-Ertbruggen syndrome	biolink:Disease	mondo	SCTID:717859007|GARD:0000846|MESH:C537668|Orphanet:1237|OMIM:209970|UMLS:C1859526|ICD10:Q87.8	ordo_malformation_syndrome|gard_rare	Beemer lethal malformation syndrome|Beemer Ertbruggen syndrome|hydrocephalus, Cardiac malformation, dense bones, etc.|peculiar facial appearance, hydrocephalus, double-outlet right ventricle, genital anomalies and dense bones with lethal outcome|hydrocephalus, cardiac malformation, dense bones, etc|lethal hydrocephalus-cardiac malformation-dense bones syndrome	http://purl.obolibrary.org/obo/MONDO_0008857	Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984.	UMLS:C1859526|ORPHA:1237|MESH:C537668|SNOMEDCT:717859007|http://identifiers.org/omim/209970
MONDO:0008856	immunodeficiency 27A	biolink:Disease	mondo	UMLS:C4011949|GARD:0009185|OMIM:209950		immunodeficiency type 27A|atypical mycobacterial infection, familial disseminated|IFNGR1 deficiency, autosomal recessive|immunodeficiency 27A; IMD27A|atypical mycobacterial infection, disseminated|IMD27A|immunodeficiency 27A|immunodeficiency 27A, Mycobacteriosis, autosomal recessive|atypical mycobacteriosis, familial|mycobacterial disease, Mendelian susceptibility to	http://purl.obolibrary.org/obo/MONDO_0008856		UMLS:C4011949|http://identifiers.org/omim/209950
UBERON:0015052	femur endochondral element	biolink:AnatomicalEntity	mondo			femur skeletal element|femur element	http://purl.obolibrary.org/obo/UBERON_0015052	A femur bone or its cartilage or pre-cartilage precursor.	
MONDO:0008855	MHC class II deficiency	biolink:Disease	mondo	OMIM:209920|GARD:0000824|ICD10:D81.7|DOID:5812|SCTID:71904008|ICD10:D81.6|Orphanet:572|NCIT:C3895|MESH:C537079|UMLS:CN239286	gard_rare|ordo_disease	Bare lymphocyte syndrome, type II, complementation group A|severe combined immunodeficiency, HLA Class II-negative|BLS, type II|SCID due to absent class II HLA antigens|MHC class II expression deficiency|BARE lymphocyte syndrome, type II|Bare lymphocyte syndrome type 2|HLA class 2-negative SCID|major histocompatibility complex class II expression deficiency|SCID, HLA CLASS II-NEGATIVE BARE lymphocyte syndrome, type II, complementation group A, included|BARE lymphocyte syndrome|Bls, type 2|severe combined immunodeficiency, HLA class ii-negative|BARE lymphocyte syndrome, type II, complementation group E, included|bare lymphocyte syndrome type II|HLA class 2-negative severe combined immunodeficiency|BARE lymphocyte syndrome, type II, complementation group D, included|Bare lymphocyte syndrome, type 2|BARE lymphocyte syndrome, type II, complementation group C, included|immunodeficiency by defective expression of HLA class 2|Bare lymphocyte syndrome|BARE lymphocyte syndrome, type II, complementation group B, included|BLS type II|SCID, HLA Class 2-negative|BLS|BLS 2|Bare lymphocyte syndrome, type II, complementation group E|BLSII|Bare lymphocyte syndrome, type II|Bare lymphocyte syndrome, type II, complementation group D|Bare lymphocyte syndrome, type II, complementation group C|SCID, HLA Class II-negative|immunodeficiency by defective expression of HLA class type 2|Bare lymphocyte syndrome, type II, complementation group B|Bare lymphocyte syndrome 2	http://purl.obolibrary.org/obo/MONDO_0008855	Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood.	UMLS:CN239286|NCIT:C3895|MESH:C537079|SNOMEDCT:71904008|DOID:5812|ORPHA:572|http://identifiers.org/omim/209920
MONDO:0008854	Bardet-Biedl syndrome 1	biolink:Disease	mondo	UMLS:C2936862|EFO:0009021|ICD10:Q87.89|GARD:0000820|OMIM:209900|MESH:C537909|DOID:0110123	gard_rare	Bardet-Biedl syndrome 1; BBS1|Bardet-Biedl syndrome type 1|Bardet-Biedl syndrome 1|BBS1	http://purl.obolibrary.org/obo/MONDO_0008854	A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13.	UMLS:C2936862|MESH:C537909|DOID:0110123|http://identifiers.org/omim/209900
MONDO:0008853	Barber-Say syndrome	biolink:Disease	mondo	DOID:0060549|MESH:C537908|SCTID:408537003|GARD:0000819|OMIM:209885|ICD10:Q87.0|UMLS:C1319466|Orphanet:1231	gard_rare|ordo_malformation_syndrome	hypertrichosis atrophic skin ectropion macrostomia|Barber Say syndrome|Barber-Say syndrome|BARBER-SAY syndrome; BBRSAY|Bss|hypertrichosis-atrophic skin-ectropion-macrostomia syndrome|BBRSAY|hypertrichosis, atrophic skin, ectropion, and macrostomia	http://purl.obolibrary.org/obo/MONDO_0008853	Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.	ORPHA:1231|MESH:C537908|http://identifiers.org/omim/209885|DOID:0060549|UMLS:C1319466|SNOMEDCT:408537003
NCBITaxon:9845	Ruminantia	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_9845		
MONDO:0008852	congenital central hypoventilation syndrome	biolink:Disease	mondo	ICD10:G47.3|DOID:0060731|MedDRA:10066131|OMIM:209880|MedDRA:10007982|UMLS:C1275808|SCTID:230499002|GARD:0008535|NCIT:C98889|Orphanet:661	clingen|gard_rare|ordo_disease	ondine's curse (formerly)|congenital ondine curse|Haddad syndrome|ondine curse, congenital|CCHS|central hypoventilation syndrome, congenital|ondine curse (formerly)|autonomic control, congenital failure of|ondine syndrome|ondine curse|Cchs with Hirschsprung disease|primary alveolar hypoventilation|ondine-Hirschsprung disease|congenital failure of autonomic control|central congenital hypoventilation syndrome|congenital central alveolar hypoventilation syndrome|idiopathic congenital central alveolar hypoventilation|central hypoventilation syndrome, congenital; CCHS|congenital central hypoventilation	http://purl.obolibrary.org/obo/MONDO_0008852	A rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.	MEDDRA:10066131|SNOMEDCT:230499002|MEDDRA:10007982|ORPHA:661|http://identifiers.org/omim/209880|NCIT:C98889|DOID:0060731|UMLS:C1275808
MONDO:0008851	obsolete autism	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0008851		
MONDO:0008850	Cooper-Jabs syndrome	biolink:Disease	mondo	Orphanet:1488|SCTID:720748007|OMIM:209770|ICD10:Q87.8|MESH:C565923	ordo_malformation_syndrome	aural atresia, multiple congenital anomalies, and mental retardation|aural atresia, multiple congenital anomalies, and intellectual disability|aural atresia-multiple congenital anomalies-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0008850	Cooper-Wang-Jabs syndrome is a multiple malformation syndrome characterized by atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot, and intellectual deficit. It has been described only once, in two sisters. The mode of inheritance is most likely autosomal recessive.	ORPHA:1488|SNOMEDCT:720748007|MESH:C565923|http://identifiers.org/omim/209770
UBERON:0015057	scapula endochondral element	biolink:AnatomicalEntity	mondo			scapula skeletal element|scapula element	http://purl.obolibrary.org/obo/UBERON_0015057	A scapula bone or its cartilage or pre-cartilage precursor.	
UBERON:0015059	orbitosphenoid endochondral element	biolink:AnatomicalEntity	mondo			orbitosphenoid element|orbitosphenoid skeletal element	http://purl.obolibrary.org/obo/UBERON_0015059	A orbitosphenoid bone or its cartilage or pre-cartilage precursor.	
MONDO:0021829	agnathia-microstomia-synotia	biolink:Disease	mondo	UMLS:C2931718|GARD:0010125|MESH:C538059	gard_rare	Plurimalformative syndrome|agnathia, microstomia, synotia and cardiac and pulmonary maldevelopment	http://purl.obolibrary.org/obo/MONDO_0021829		MESH:C538059|UMLS:C2931718
UBERON:0003076	posterior neural tube	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0003076		
UBERON:0003077	paraxial mesoderm	biolink:AnatomicalEntity	mondo			mesoderma paraxiale|paraxial mesenchyme|somitic mesoderm	http://purl.obolibrary.org/obo/UBERON_0003077	The paraxial mesoderm is the mesoderm located bilaterally adjacent to the notochord and neural tube[GO]	
HP:0003125	Reduced factor VIII activity	biolink:PhenotypicFeature	mondo	UMLS:C3494187|MSH:D006467|UMLS:C4025649|SNOMEDCT_US:234440005		Factor VIII deficiency	http://purl.obolibrary.org/obo/HP_0003125	Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.	
HP:0003124	Hypercholesterolemia	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:166830008|UMLS:C0020443|SNOMEDCT_US:13644009|UMLS:C0595929|MSH:D006937		High cholesterol|Increased total cholesterol|Elevated serum cholesterol|Elevated total cholesterol	http://purl.obolibrary.org/obo/HP_0003124	An increased concentration of cholesterol in the blood.	
UBERON:0003074	mesonephric duct	biolink:AnatomicalEntity	mondo			archinephric duct|Leydig's duct|Wolffian duct|renal duct|ductus mesonephricus; ductus Wolffi	http://purl.obolibrary.org/obo/UBERON_0003074	Paired organ that connects the primitive kidney Wolffian body (or mesonephros) to the cloaca and serves as the anlage for certain male reproductive organs. the Wolffian duct is what remains of the pronephric duct after the atrophy of the pronephros[WP]. In Zebrafish: Duct of the adult kidney (mesonephros), present bilaterally ventral to the somites and leading to the cloacal chamber[ZFA].	
UBERON:0003075	neural plate	biolink:AnatomicalEntity	mondo			lamina neuralis|presumptive central nervous system	http://purl.obolibrary.org/obo/UBERON_0003075	A region of embryonic ectodermal cells that lie directly above the notochord. During neurulation, they change shape and produce an infolding of the neural plate (the neural fold) that then seals to form the neural tube[XAO]. The earliest recognizable dorsal ectodermal primordium of the central nervous system present near the end of gastrulation before infolding to form the neural keel; consists of a thickened pseudostratified epithelium[ZFA]	
UBERON:0003072	optic cup	biolink:AnatomicalEntity	mondo			eye cup|eyecup|ophtalmic cup|ocular cup	http://purl.obolibrary.org/obo/UBERON_0003072	Multi-tissue structure that is comprised of neural and non-neural epithelial layers which will form the retina and retinal pigmented epithelium of the mature eye[ZFA]. double walled structured formed by expansion and invagination of the distal end of the optic vesicle that develops into the pigmented and sensory layers of the retina while the mouth of the optic cup eventually forms the pupil of the eye[MP].	
UBERON:0003073	lens placode	biolink:AnatomicalEntity	mondo			lens placodes|placoda lentis	http://purl.obolibrary.org/obo/UBERON_0003073	A thickened portion of ectoderm which serves as the precursor to the lens. SOX2 and Pou2f1 are involved in its development[WP].	
HP:0003128	Lactic acidosis	biolink:PhenotypicFeature	mondo	UMLS:C0347959|UMLS:C0001125|MSH:D000140|SNOMEDCT_US:190882007|SNOMEDCT_US:91273001		Lactic acidemia|Lacticacidemia|Lacticacidosis|Increased lactate in body|Hyperlacticacidemia	http://purl.obolibrary.org/obo/HP_0003128	An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.	
UBERON:0003070	trigeminal placode complex	biolink:AnatomicalEntity	mondo			profundus placode|trigeminal V placode|trigeminal placodes|trigeminal placode|profundus V placode	http://purl.obolibrary.org/obo/UBERON_0003070	A neurogenic placode that arises at the level of the midbrain-hindbrain boundary and develops into a trigeminal ganglion.	
UBERON:0003071	eye primordium	biolink:AnatomicalEntity	mondo			optic field|optic placodes|occular primordium|optic placode|optic placode of camera-type eye|ocular primordium|eye anlage|optic primordium|eye field|eye placode	http://purl.obolibrary.org/obo/UBERON_0003071	Portion of tissue that is part of the anterior neural keel and will form the optic vesicle[ZFA]. A paired ectodermal placode that becomes invaginated to form the embryonic lens vesicles.	
MONDO:0021824	adult progressive spinal muscular atrophy, Aran Duchenne type	biolink:Disease	mondo	GARD:0009132	gard_rare	Aran Duchenne spinal muscular atrophy|adult progressive spinal muscular atrophy Aran Duchenne type|adult SMA Aran Duchenne type	http://purl.obolibrary.org/obo/MONDO_0021824	A progressive muscle weakness and atrophy of the limbs that irregularly affects certain muscles, while it spares others.	
MONDO:0021826	aerobic Actinomyces infection	biolink:Disease	mondo	GARD:0009779|UMLS:C2931717|MESH:C538054	gard_rare		http://purl.obolibrary.org/obo/MONDO_0021826	Infection with the less common aerobic antinomyces bacteria.	UMLS:C2931717|MESH:C538054
HP:0003121	Limb joint contracture	biolink:PhenotypicFeature	mondo	UMLS:C1969879		Limb contractures	http://purl.obolibrary.org/obo/HP_0003121	A contrqacture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs.	
HP:0030718	Right atrial enlargement	biolink:PhenotypicFeature	mondo	Fyler:2859|UMLS:C0748427|Fyler:1771|SNOMEDCT_US:67751000119106		Right atrial dilatation|Enlarged heart right atrium|Dilated right atrium	http://purl.obolibrary.org/obo/HP_0030718	Increase in size of the right atrium.	
UBERON:0003078	epibranchial placode	biolink:AnatomicalEntity	mondo			ventrolateral placode|epibranchial placodes	http://purl.obolibrary.org/obo/UBERON_0003078	Focal thickenings of the embryonic ectoderm that form immediately dorsal and caudal of the clefts between the pharyngeal arches and that produce the neuroblasts that migrate and condense to form the distal cranial ganglia.	
UBERON:0015043	manual digit 1 metacarpus endochondral element	biolink:AnatomicalEntity	mondo			manual digit 1 metacarpus skeletal element|manual digit I metacarpus endochondral element|manual digit 1 metacarpus element	http://purl.obolibrary.org/obo/UBERON_0015043	A manual digit 1 metacarpus bone or its cartilage or pre-cartilage precursor.	
UBERON:0015042	manual digit metacarpus endochondral element	biolink:AnatomicalEntity	mondo			manual digit metacarpus skeletal element|manual digit metacarpus element	http://purl.obolibrary.org/obo/UBERON_0015042	A manual digit metacarpus bone or its cartilage or pre-cartilage precursor.	
MONDO:0006208	fallopian tube serous adenocarcinoma	biolink:Disease	mondo	NCIT:C40099|UMLS:C1517124|EFO:1000253|DOID:5598		fallopian tube serous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006208	A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma.	NCIT:C40099|DOID:5598|UMLS:C1517124
MONDO:0006209	fibroblastic neoplasm	biolink:Disease	mondo	EFO:1000255|NCIT:C7075		fibroblastic tumor|fibroblastic neoplasm|fibrogenicTumor|fibrous neoplasm|fibrocytic neoplasm|fibrocytic tumor|fibrous tumor|fibrogenic neoplasm	http://purl.obolibrary.org/obo/MONDO_0006209	A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts.	NCIT:C7075
MONDO:0006206	fallopian tube carcinoma	biolink:Disease	mondo	DOID:1963|EFO:1000251|UMLS:C0238122|NCIT:C3867|SCTID:276870001		cancer of the fallopian tube|cancer of fallopian tube|carcinoma of fallopian tube|carcinoma of the fallopian tube|fallopian tube carcinoma|fallopian tube Ca|fallopian tube cancer	http://purl.obolibrary.org/obo/MONDO_0006206	A carcinoma that arises from epithelial cells of the fallopian tube.	DOID:1963|UMLS:C0238122|NCIT:C3867|SNOMEDCT:276870001
MONDO:0008869	Seckel syndrome 1	biolink:Disease	mondo	DOID:0070007|UMLS:C1837590|OMIM:210600|UMLS:CN033164		Seckel syndrome caused by mutation in ATR|SCKL1|Seckel syndrome type 1|Sckl|Seckel syndrome 1|nanocephalic dwarfism|Bird-headed dwarfism|microcephalic primordial dwarfism 1|microcephalic primordial dwarfism I|Seckel-type dwarfism|ATR Seckel syndrome|Seckel syndrome 1; SCKL1|Seckel syndrome 3	http://purl.obolibrary.org/obo/MONDO_0008869	Any Seckel syndrome in which the cause of the disease is a mutation in the ATR gene.	http://identifiers.org/omim/210600|UMLS:CN033164|UMLS:C1837590|DOID:0070007
MONDO:0008868	biliary malformation with renal tubular insufficiency	biolink:Disease	mondo	UMLS:C0400972|MESH:C537726|OMIM:210550|SCTID:235914003		biliary malformation with renal tubular insufficiency|cholestatic jaundice and renal tubular insufficiency	http://purl.obolibrary.org/obo/MONDO_0008868		http://identifiers.org/omim/210550|UMLS:C0400972|MESH:C537726|SNOMEDCT:235914003
MONDO:0006207	fallopian tube carcinosarcoma	biolink:Disease	mondo	UMLS:C1517117|DOID:1970|EFO:1000252|NCIT:C40124		fallopian tube malignant mixed mesodermal (mullerian) tumor|fallopian tube carcinosarcoma|fallopian tube malignant mixed mesodermal (Müllerian) tumor|fallopian tube malignant mixed Mullerian tumor	http://purl.obolibrary.org/obo/MONDO_0006207	A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor.	DOID:1970|NCIT:C40124|UMLS:C1517117
MONDO:0008867	biliary atresia	biolink:Disease	mondo	SCTID:77480004|DOID:13608|UMLS:C0005411|COHD:196796|ICD10:Q44.2|MESH:D001656|MedDRA:10003650|ICD9:751.61|NCIT:C34421|GARD:0012010|OMIM:210500|Orphanet:30391	gard_rare|ordo_morphological_anomaly	atresia of bile ducts|congenital biliary atresia|biliary atresia, extrahepatic; EHBA|isolated biliary atresia|isolated atresia of bile ducts|EHBA|atresia of bile duct|non-syndromic biliary atresia|biliary atresia, congenital|biliary atresia, extrahepatic	http://purl.obolibrary.org/obo/MONDO_0008867	Biliary atresia is a rare, progressive obliterative cholangiopathy of the extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent jaundice and acholic stool with an unfavorable course in the absence of treatment.	NCIT:C34421|MESH:D001656|ORPHA:30391|DOID:13608|MEDDRA:10003650|UMLS:C0005411|SNOMEDCT:77480004|http://identifiers.org/omim/210500
UBERON:0015041	pedal digit 5 metatarsal endochondral element	biolink:AnatomicalEntity	mondo			pedal digit 5 metatarsal element|pedal digit V metatarsal endochondral element|pedal digit 5 metatarsal skeletal element	http://purl.obolibrary.org/obo/UBERON_0015041	A pedal digit 5 metatarsal bone or its cartilage or pre-cartilage precursor.	
MONDO:0006204	obsolete extramammary Paget disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006204		
MONDO:0008866	bifid nose, autosomal recessive	biolink:Disease	mondo	OMIM:210400		Nose, Median cleft of|median fissure of Nose|bifid nose, autosomal recessive|autosomal recessive bifid nose	http://purl.obolibrary.org/obo/MONDO_0008866	Autosomal recessive form of bifid nose.	http://identifiers.org/omim/210400
MONDO:0006205	obsolete extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006205		
MONDO:0006202	extrahepatic bile duct adenosquamous carcinoma	biolink:Disease	mondo	NCIT:C5778|EFO:1000247		extrahepatic bile duct adenosquamous carcinoma|adenosquamous carcinoma of the bile duct|adenosquamous bile duct carcinoma|bile duct adenosquamous carcinoma|adenosquamous carcinoma of bile duct	http://purl.obolibrary.org/obo/MONDO_0006202	A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components.	NCIT:C5778
MONDO:0008865	Bietti crystalline corneoretinal dystrophy	biolink:Disease	mondo	OMIM:210370|DOID:0050664|MESH:C535440|Orphanet:41751|GARD:0010050|UMLS:C1859486|ICD10:H15.5|SCTID:312927001	gard_rare|ordo_disease	BCD|Bietti crystalline retinopathy|Bietti tapetoretinal Degeneration with marginal corneal dystrophy|Bietti crystalline dystrophy|Bietti's crystalline dystrophy|Bietti crystalline corneoretinal dystrophy|Bietti crystalline corneoretinal dystrophy; BCD	http://purl.obolibrary.org/obo/MONDO_0008865	Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness.	SNOMEDCT:312927001|DOID:0050664|MESH:C535440|ORPHA:41751|http://identifiers.org/omim/210370|UMLS:C1859486
MONDO:0008864	Biemond syndrome type 2	biolink:Disease	mondo	GARD:0000882|Orphanet:141333|SCTID:717887003|MESH:C565902|UMLS:C1859487|OMIM:210350	gard_rare|ordo_disease	Biemond syndrome type 2|BIEMOND syndrome II|iris coloboma, mental retardation, obesity, hypogenitalism, and postaxial polydactyly|BS2|hypogonadism-short stature-coloboma-preaxial polydactyly syndrome|Biemond syndrome 2|iris coloboma, intellectual disability, obesity, hypogenitalism, and postaxial polydactyly	http://purl.obolibrary.org/obo/MONDO_0008864	Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997.	UMLS:C2930903|SNOMEDCT:717887003|MESH:C565902|http://identifiers.org/omim/210350|ORPHA:141333|UMLS:C1859487
MONDO:0006203	extrahepatic bile duct squamous cell carcinoma	biolink:Disease	mondo	EFO:1000248|NCIT:C5777		bile duct squamous cell carcinoma|squamous cell bile duct carcinoma|squamous cell carcinoma of the bile duct|squamous cell carcinoma of bile duct|extrahepatic bile duct squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006203	A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells.	NCIT:C5777
MONDO:0006200	epithelioid cell uveal melanoma	biolink:Disease	mondo	DOID:7040|NCIT:C35780|EFO:1000244|UMLS:C1333422		uveal epithelioid cell melanoma|epithelioid cell melanoma of uvea|uvea epithelioid cell melanoma|epithelioid cell uveal melanoma	http://purl.obolibrary.org/obo/MONDO_0006200	A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes.	UMLS:C1333422|NCIT:C35780|DOID:7040
MONDO:0008863	sitosterolemia	biolink:Disease	mondo	Orphanet:101022|UMLS:C0342907|Orphanet:2882|NCIT:C125694|OMIMPS:210250|MedDRA:10063985|SCTID:238104009|MESH:C537345|GARD:0007653|DOID:0090019|ICD10:E78.0|OMIMPS:215250	gard_rare|ordo_disease	phytosterolemia|retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body|STSL|macrothrombocytopenia/stomatocytosis, Mediterranean|sitosterolemia|plant sterol storage disease	http://purl.obolibrary.org/obo/MONDO_0008863	(2p21) genes.	MESH:C537345|ORPHA:2882|SNOMEDCT:238104009|DOID:0090019|UMLS:C0342907|MEDDRA:10063985|ORPHA:101022|NCIT:C125694
MONDO:0006201	ethmoid sinus adenoid cystic carcinoma	biolink:Disease	mondo	UMLS:C1333473|EFO:1000246|DOID:2764|NCIT:C6238		adenoid cystic carcinoma of the ethmoid sinus|adenoid cystic carcinoma of ethmoid sinus	http://purl.obolibrary.org/obo/MONDO_0006201	An adenoid cystic carcinoma that affects the ethmoid sinus.	UMLS:C1333473|NCIT:C6238|DOID:2764
MONDO:0008862	3-methylcrotonyl-CoA carboxylase 2 deficiency	biolink:Disease	mondo	OMIM:210210|GARD:0009151|DOID:0080580|MESH:C535309		methylcrotonylglycinuria, type 2|MCCC2 3-methylcrotonyl-CoA carboxylase deficiency|MCC 2 deficiency|3-methylcrotonylglycinuria 2|3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC2|3-Methylcrotonyl-CoA carboxylase 2 deficiency|3 alpha methylcrotonyl-CoA carboxylase 2 deficiency|MCC2 deficiency|MCC2D|3-METHYLCROTONYL-CoA carboxylase 2 deficiency; MCC2D|3 alpha methylcrotonylglycinuria 2|methylcrotonylglycinuria type 2	http://purl.obolibrary.org/obo/MONDO_0008862	Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC2 gene.	DOID:0080580|MESH:C535309|http://identifiers.org/omim/210210
MONDO:0008861	3-methylcrotonyl-CoA carboxylase 1 deficiency	biolink:Disease	mondo	GARD:0005665|OMIM:210200|UMLS:CN028786|DOID:0080579|MESH:C535308	gard_rare	deficiency of methylcrotonoyl-Coa carboxylase|methylcrotonylglycinuria type 1|3 alpha methylcrotonylglycinuria 1|Bmcc deficiency|3-methylcrotonyl-CoA carboxylase 1 deficiency|MCCC1 3-methylcrotonyl-CoA carboxylase deficiency|3 Methylcrotonyl-CoA carboxylase 1 deficiency|MCC deficiency|3-methylcrotonylglycinuria 1|3-Methylcrotonyl-Coa carboxylase deficiency|3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC1|3-methylcrotonylglycinuria|3-Methylcrotonyl-Coa carboxylase 1 deficiency|methylcrotonoyl-CoA carboxylase 1 deficiency|MCC1D|Mcc1 deficiency|3 methylcrotonylglycinuria|3-MCC deficiency|3 Alpha methylcrotonylglycinuria 1|methylcrotonylglycinuria type I|MCC1 deficiency|Mccd type 1|3-Methylcrotonyl-Coenzyme A carboxylase deficiency|3-METHYLCROTONYL-CoA carboxylase 1 deficiency; MCC1D|MCCD type 1|MCC 1 deficiency|Methylcrotonyl-Coa carboxylase deficiency|3 Methylcrotonyl-CoA carboxylase deficiency|3-methylcrotonylglycinuria I	http://purl.obolibrary.org/obo/MONDO_0008861	Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene.	UMLS:CN028786|DOID:0080579|MESH:C535308|http://identifiers.org/omim/210200
UBERON:0015047	manual digit 5 metacarpus endochondral element	biolink:AnatomicalEntity	mondo			manual digit V metacarpus endochondral element|manual digit 5 metacarpus skeletal element|manual digit 5 metacarpus element	http://purl.obolibrary.org/obo/UBERON_0015047	A manual digit 5 metacarpus bone or its cartilage or pre-cartilage precursor.	
MONDO:0008860	beta-aminoisobutyric acid, urinary excretion of	biolink:Disease	mondo	OMIM:210100|MESH:C565904|UMLS:C1859518		Baib urinary excretion|Beta-aminoisobutyric aciduria|BETA-aminoisobutyric aciduria; BAIBA|BAIBA|hyper-Beta-aminoisobutyric aciduria|beta-aminoisobutyric acid, urinary excretion of	http://purl.obolibrary.org/obo/MONDO_0008860		MESH:C565904|http://identifiers.org/omim/210100|UMLS:C1859518
UBERON:0015049	carpus endochondral element	biolink:AnatomicalEntity	mondo			carpus element|carpus skeletal element	http://purl.obolibrary.org/obo/UBERON_0015049	A carpus bone or its cartilage or pre-cartilage precursor.	
HP:0030724	Central nervous system cyst	biolink:PhenotypicFeature	mondo	UMLS:C0349606|MSH:D020863|SNOMEDCT_US:277333006		CNS cyst|Cyst of the central nervous system	http://purl.obolibrary.org/obo/HP_0030724	A fluid-filled sac (cyst) located within the central nervous system.	
UBERON:0003066	pharyngeal arch 2	biolink:AnatomicalEntity	mondo			branchial arch 2|second pharyngeal arch|hyoid bars|pharyngeal arch 2|second branchial arch|second visceral arch|arcus pharyngeus secundus|2nd visceral arch|hyoid arch|visceral arch 2|pharyngeal arches 2|2nd arch|2nd pharyngeal arch	http://purl.obolibrary.org/obo/UBERON_0003066	The second pharyngeal arch will form the hyoid apparatus. The cranial neural crest cells that populate the second pharyngeal arch emerge primarily from rhombomere 4 and will form skeletal elements.	
UBERON:0003063	prechordal plate	biolink:AnatomicalEntity	mondo			head mesoderm|head mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003063	A horseshoe-shaped thickening of the endoderm at the cranial (rostral) end of the primitive streak formed by the involution of Spemann's organizer cells which, together with the notochord, induces the formation of the neural plate from the overlying ectodermal cells and contributes mesodermal type cells to the surrounding tissue	
UBERON:0003064	intermediate mesoderm	biolink:AnatomicalEntity	mondo			mesenchyma intermedium|IM|intermediate plate mesoderm|intermediate mesenchyme|intermediate plate	http://purl.obolibrary.org/obo/UBERON_0003064	The intermediate mesoderm is located between the lateral mesoderm and the paraxial mesoderm. It develops into the kidney and gonads.	
UBERON:0003061	blood island	biolink:AnatomicalEntity	mondo			caudal hematopoietic tissue|ventral lateral plate mesoderm|ventral blood island|posterior ICM|blood islands|VBI|posterior blood island	http://purl.obolibrary.org/obo/UBERON_0003061	Blood islands are structures in the developing embryo which lead to many different parts of the circulatory system. They primarily derive from plexuses formed from angioblasts. Within them, vacuoles appear through liquefaction of the central part of the syncytium into plasma. The lumen of the blood vessels thus formed is probably intracellular. The flattened cells at the periphery form the endothelium. The nucleated red blood corpuscles develop either from small masses of the original angioblast left attached to the inner wall of the lumen or directly from the flat endothelial cells. In either case the syncytial mass thus formed projects from and is attached to the wall of the vessel. Such a mass is known as a blood island and hemoglobin gradually accumulates within it. Later the cells on the surface round up, giving the mass a mulberry-like appearance. Then the red blood cells break loose and are carried away in the plasma. Such free blood cells continue to divide. Blood islands have been seen in the area vasculosa in the omphalomesenteric vein and arteries, and in the dorsal aorta[WP, unvetted].	
UBERON:0003060	pronephric duct	biolink:AnatomicalEntity	mondo			archinephric duct|pronephric ducts|ductus pronephricus	http://purl.obolibrary.org/obo/UBERON_0003060	In mammals, the pronephric duct is the predecessor of the Wolffian duct[WP].	
NCBITaxon:7203	Brachycera	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_7203		
MONDO:0021811	acute mountain sickness	biolink:Disease	mondo	SCTID:78590007|GARD:0005730|UMLS:C0238284|ICD9:993.2	gard_rare	Mountain sickness|soroche|altitude sickness|acute mountain sickness|high altitude pulmonary edema|altitude anoxia|acosta's disease|high altitude cerebral edema	http://purl.obolibrary.org/obo/MONDO_0021811	Acute mountain sickness is characterized by altitude sickness that affects otherwise healthy persons, develops within hours after arriving at altitude, and results in functional impairment from symptoms that may include headache, anorexia, nausea, vomiting, dizziness, fatigue, and sleep disturbances.	SNOMEDCT:78590007|UMLS:C0238284
MONDO:0021812	adnexal spiradenoma/cylindroma of a sweat gland	biolink:Disease	mondo	SCTID:274903001|NCIT:C27094|GARD:0008641|ICDO:8200/0	gard_rare	cylindroma of the skin|cylindroma|adnexal sweat gland spiradenoma/cylindroma|dermal cylindroma|cylindroma of skin	http://purl.obolibrary.org/obo/MONDO_0021812	A benign sweat gland neoplasm usually occurring in the scalp or the face. It may present as solitary or multiple papular or nodular lesions. It may be a sporadic lesion or part of Brooke-Spiegler syndrome. It arises from the dermis and has a multinodular, circumscribed appearance. The nodules contain basaloid cells with small, dark nuclei. Complete excision is usually curative.	SNOMEDCT:274903001|NCIT:C27094
UBERON:0003069	otic placode	biolink:AnatomicalEntity	mondo			auditory placode|ear/otic placode|ear placode|octaval VIII placode|placoda otica|octaval placode	http://purl.obolibrary.org/obo/UBERON_0003069	A cranial placode which, once specified, invaginates to form an otic cup, which eventually separates from the surface ectoderm to form the otic vesicle or otocyst, a rounded structure without appar- ent polarity. As the otic placode invaginates into a cup neuroblasts delaminate from the anterior ventral aspect of the otic epithelium to give rise to neurons of the vestibulocochlear (statoacoustic) ganglion of cranial nerve VIII[NBK]	
HP:0003133	Abnormality of the spinocerebellar tracts	biolink:PhenotypicFeature	mondo	UMLS:C4025647			http://purl.obolibrary.org/obo/HP_0003133	An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract.	
UBERON:0003067	dorsolateral placode	biolink:AnatomicalEntity	mondo			dorsolateral placodes	http://purl.obolibrary.org/obo/UBERON_0003067	Lateral neurogenic placodes positioned dorsal of the epibranchial placodes.	
UBERON:0003068	axial mesoderm	biolink:AnatomicalEntity	mondo			chordamesoderm	http://purl.obolibrary.org/obo/UBERON_0003068	The axial mesoderm includes the prechordal mesoderm and the chordamesoderm. It gives rise to the prechordal plate and to the notochord.	
UBERON:0005629	vascular plexus	biolink:AnatomicalEntity	mondo			plexus vasculosus	http://purl.obolibrary.org/obo/UBERON_0005629	A vascular network formed by frequent anastomoses between the blood vessels (arteries or veins) of a part.	
HGNC:3800	FOXC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3800		
UBERON:0005637	pyloric region epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005637	An epithelium that is part of a pylorus.	
UBERON:0005636	caecum epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005636	An epithelium that is part of a caecum.	
UBERON:0005631	extraembryonic membrane	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005631	Intrinsic membrane that arises from embryonic germ layers and grow to surround the developing embryo.	
UBERON:0005630	fetal membrane	biolink:AnatomicalEntity	mondo			adnexa fetalia	http://purl.obolibrary.org/obo/UBERON_0005630	The amnion and chorion which surround and protect a developing fetus.	
CHEBI:46662	mineral	biolink:ChemicalSubstance	mondo			minerals|minerales|mineraux|mineral|Minerale	http://purl.obolibrary.org/obo/CHEBI_46662	In general, a mineral is a chemical substance that is normally crystalline formed and has been formed as a result of geological processes. The term also includes metamict substances (naturally occurring, formerly crystalline substances whose crystallinity has been destroyed by ionising radiation) and can include naturally occurring amorphous substances that have never been crystalline ('mineraloids') such as georgite and calciouranoite as well as substances formed by the action of geological processes on bigenic compounds ('biogenic minerals').	
HGNC:3808	FOXE3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3808		
CHEBI:46663	silicate mineral	biolink:ChemicalSubstance	mondo			Silikate|silicatos|silicate minerals|Silikatminerale|silicates|silicato|Silikat	http://purl.obolibrary.org/obo/CHEBI_46663		
HGNC:3806	FOXE1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3806		
UBERON:0005619	secondary palatal shelf	biolink:AnatomicalEntity	mondo			lateral palatine process|palatine shelf|secondary palatal shelf|palatal shelf|palatal shelves	http://purl.obolibrary.org/obo/UBERON_0005619	The outgrowths of the embryonic maxillary prominences that come together during prenatal development to form the secondary palate	
HGNC:3804	FOXD3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3804		
UBERON:0005617	mesenteric vein	biolink:AnatomicalEntity	mondo			intestinal vein	http://purl.obolibrary.org/obo/UBERON_0005617	A vein that returns blood from the intestines.	
HGNC:3801	FOXC2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3801		
UBERON:0005616	mesenteric artery	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005616	Arteries which arise from the abdominal aorta and distribute to most of the intestines.	
CHEBI:46661	asbestos	biolink:ChemicalSubstance	mondo			asbesto|Asbest|asbestos	http://purl.obolibrary.org/obo/CHEBI_46661	Fibrous incombustible mineral composed of magnesium and calcium silicates with or without other elements.	
HGNC:3809	FOXF1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3809		
UBERON:0005626	ventral mesogastrium	biolink:AnatomicalEntity	mondo			foregut ventral mesentery	http://purl.obolibrary.org/obo/UBERON_0005626	Portion of ventral mesentery closest to the stomach.	
HGNC:3811	FOXG1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3811		
UBERON:0005625	tubotympanic recess lumen	biolink:AnatomicalEntity	mondo			tubotympanic recess|tubotympanic recess space|tubotympanic recess cavity|cavity of tubotympanic recess	http://purl.obolibrary.org/obo/UBERON_0005625	The cavity formed by the tubotympanic recess epithelium.	
UBERON:0005624	suprarenal artery	biolink:AnatomicalEntity	mondo			adrenal artery	http://purl.obolibrary.org/obo/UBERON_0005624	Artery that supplies blood to the adrenal glands.	
UBERON:0005623	semi-lunar valve	biolink:AnatomicalEntity	mondo			semilunar valves|semilunar valve	http://purl.obolibrary.org/obo/UBERON_0005623	the valves that gate the flow of blood from the ventricles into the aorta and pulmonary trunk	
UBERON:0005622	right dorsal aorta	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005622		
HGNC:3819	FOXO1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3819		
UBERON:0005609	iliac artery	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005609	Any of the arteries that arise from a bifurcation of the aorta supplying the pelvic or abdomen. Examples: Common iliac artery, External iliac artery, Internal iliac artery	
HGNC:3815	FOXI1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3815		
UBERON:0005606	hyaloid cavity	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005606		
NCBITaxon:9895	Bovidae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_9895		
UBERON:0005614	lens anterior epithelium	biolink:AnatomicalEntity	mondo			anterior surface of lens|subcapsular lens epithelium|lens subcapsular epithelium|lens epithelium|anterior epithelium of lens vesicle	http://purl.obolibrary.org/obo/UBERON_0005614	A layer of cuboidal epithelial cells bounded anteriorly by the capsule of the lens and posteriorly by the lens cortex.	
UBERON:0005613	left dorsal aorta	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005613		
UBERON:0005610	iliac vein	biolink:AnatomicalEntity	mondo			pelvic vein	http://purl.obolibrary.org/obo/UBERON_0005610	Any of the three veins including the common, external and internal iliac veins.	
CHEBI:22695	base	biolink:ChemicalSubstance	mondo			Base|base|bases|Base2|Base1|Basen|Nucleobase	http://purl.obolibrary.org/obo/CHEBI_22695	A molecular entity having an available pair of electrons capable of forming a covalent bond with a hydron (Bronsted base) or with the vacant orbital of some other molecular entity (Lewis base).	
CHEBI:22693	barbiturates	biolink:ChemicalSubstance	mondo			barbituric acids|barbiturates	http://purl.obolibrary.org/obo/CHEBI_22693	Members of the class of pyrimidones consisting of pyrimidine-2,4,6(1H,3H,5H)-trione (barbituric acid) and its derivatives. Largest group of the synthetic sedative/hypnotics, sharing a characteristic six-membered ring structure.	
GO:0006417	regulation of translation	biolink:OntologyClass	mondo			regulation of protein biosynthesis|regulation of protein anabolism|regulation of protein synthesis|regulation of protein formation	http://purl.obolibrary.org/obo/GO_0006417	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA.	
GO:0006414	translational elongation	biolink:OntologyClass	mondo			translation elongation|protein synthesis elongation	http://purl.obolibrary.org/obo/GO_0006414	The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis.	
GO:0006415	translational termination	biolink:OntologyClass	mondo			translation termination|protein synthesis termination|translational complex disassembly	http://purl.obolibrary.org/obo/GO_0006415	The process resulting in the release of a polypeptide chain from the ribosome, usually in response to a termination codon (UAA, UAG, or UGA in the universal genetic code).	
GO:0006412	translation	biolink:OntologyClass	mondo			protein anabolism|protein biosynthetic process|protein biosynthesis|protein synthesis|protein formation|protein translation	http://purl.obolibrary.org/obo/GO_0006412	The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome.	
GO:0006413	translational initiation	biolink:OntologyClass	mondo			translation initiation|biopolymerisation|protein synthesis initiation|biopolymerization	http://purl.obolibrary.org/obo/GO_0006413	The process preceding formation of the peptide bond between the first two amino acids of a protein. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA.	
HGNC:3823	FOXP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3823		
CHEBI:22691	barbiturate anion	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_22691		
UBERON:0005604	extrahepatic part of hepatic duct	biolink:AnatomicalEntity	mondo			hepatic duct extrahepatic part|extrahepatic part of the hepatic duct	http://purl.obolibrary.org/obo/UBERON_0005604		
UBERON:0029636	lumbar spinal cord gray matter	biolink:AnatomicalEntity	mondo			lumbar spinal cord gray matter	http://purl.obolibrary.org/obo/UBERON_0029636		
UBERON:0005602	dorsal mesogastrium	biolink:AnatomicalEntity	mondo			dorsal mesentery	http://purl.obolibrary.org/obo/UBERON_0005602	The portion of mesentery attached to the greater curvature of the stomach is named the dorsal mesentery (or dorsal mesogastrium, when referring to the portion at the stomach), and the part which suspends the colon is termed the mesocolon. The dorsal mesogastrium develops into the greater omentum.	
UBERON:0017651	salivary gland primordium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0017651	A primordium that has the potential to develop into a saliva-secreting gland.	
UBERON:0017650	developing mesenchymal structure	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0017650	A mesenchyme-derived anatomical entity undergoing a transtion to become another structure.	
UBERON:0017659	ventral surface of penis	biolink:AnatomicalEntity	mondo			urethral surface of penis	http://purl.obolibrary.org/obo/UBERON_0017659		
UBERON:0017654	buccal gland	biolink:AnatomicalEntity	mondo			cheek gland	http://purl.obolibrary.org/obo/UBERON_0017654	Any of the small racemose mucous glands in the mucous membrane lining the cheeks	
UBERON:0005673	left lung endothelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005673	An endothelium that is part of a left lung.	
UBERON:0005672	right lung endothelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005672	An endothelium that is part of a right lung.	
UBERON:0005670	greater omentum mesothelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005670	A mesothelium that is part of a greater omentum.	
UBERON:0005677	caecum mesentery	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005677	A mesentery that is part of a caecum.	
MONDO:0008807	apnea, central sleep	biolink:Disease	mondo	OMIM:207720|OMIM:107640|UMLS:C0520680		sleep apnea, lethal central|apnea, central sleep	http://purl.obolibrary.org/obo/MONDO_0008807		http://identifiers.org/omim/107640|http://identifiers.org/omim/207720|UMLS:C0520680
MONDO:0008806	Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome	biolink:Disease	mondo	GARD:0003051|MESH:C535881|ICD10:Q87.8|Orphanet:1112|UMLS:C1859754|SCTID:733118006|OMIM:207620	ordo_malformation_syndrome	Aphalangy of the hands and feet, hemivertebrae, and visceral malformations|Johnson Munson syndrome|Johnson-Munson syndrome|APHALANGY with hemivertebrae	http://purl.obolibrary.org/obo/MONDO_0008806	Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis is an extremely rare congenital limb malformation syndrome, described in only 3 patients to date, and characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.	MESH:C535881|SNOMEDCT:733118006|http://identifiers.org/omim/207620|UMLS:C1859754|ORPHA:1112
MONDO:0008805	obsolete Takayasu's arteritis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0008805		
MONDO:0008804	obsolete anus, imperforate	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0008804		
MONDO:0008803	Antley-Bixler syndrome	biolink:Disease	mondo	ICD10:Q87.0|DOID:0050462|Orphanet:83|GARD:0005826|SCTID:62964007	gard_rare|ordo_malformation_syndrome	osteodysgenesis, multisynostotic, with fractures|trapezoidocephaly-synostosis syndrome|trapezoidocephaly synostosis syndrome|multisynostotic osteodysgenesis with long bone fractures|Antley Bixler syndrome|trapezoidocephaly-synostosis syndrome|osteodysgenesis, multisynostotic with fractures	http://purl.obolibrary.org/obo/MONDO_0008803	Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.	DOID:0050462|MESH:C537780|http://identifiers.org/omim/207410|ORPHA:83|SNOMEDCT:62964007|UMLS:C0265307
MONDO:0008802	antithrombin, familial hemorrhagic diathesis due to	biolink:Disease	mondo	OMIM:207300|MESH:C565947|UMLS:C1859761		antithrombin, familial hemorrhagic diathesis due to	http://purl.obolibrary.org/obo/MONDO_0008802		MESH:C565947|http://identifiers.org/omim/207300|UMLS:C1859761
MONDO:0008801	anosmia for isobutyric acid	biolink:Disease	mondo	OMIM:207000		anosmia for isobutyric acid	http://purl.obolibrary.org/obo/MONDO_0008801		http://identifiers.org/omim/207000
MONDO:0008800	microphthalmia with limb anomalies	biolink:Disease	mondo	GARD:0000722|Orphanet:1106|OMIM:206920|SCTID:703403003|ICD10:Q87.2|MESH:C537769|ICD9:755.8|DOID:0060861	ordo_malformation_syndrome	OAS|microphthalmia with limb anomalies; MLA|microphthalmia with limb anomalies|MLA|anophthalmos-syndactyly|anophthalmos with limb anomalies|anophthalmia-syndactyly syndrome|ophthalmoacromelic syndrome|anophthalmia-syndactyly|Ophthalmoacromelic syndrome|Waardenburg anophthalmia syndrome|MLA|anophthalmia Waardenburg syndrome	http://purl.obolibrary.org/obo/MONDO_0008800	Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.	SNOMEDCT:703403003|DOID:0060861|http://identifiers.org/omim/206920|ORPHA:1106|MESH:C537769
UBERON:0017648	ventral body wall	biolink:AnatomicalEntity	mondo			anterior body wall	http://purl.obolibrary.org/obo/UBERON_0017648	The ventral part of the body wall	
UBERON:0017649	dorsal body wall	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0017649	The dorsal part of the body wall	
UBERON:0005662	4th arch ectoderm	biolink:AnatomicalEntity	mondo			4th pharyngeal arch ectoderm	http://purl.obolibrary.org/obo/UBERON_0005662	An ectoderm that is part of a pharyngeal arch 4.	
UBERON:0005661	3rd arch ectoderm	biolink:AnatomicalEntity	mondo			3rd pharyngeal arch ectoderm	http://purl.obolibrary.org/obo/UBERON_0005661	An ectoderm that is part of a pharyngeal arch 3.	
UBERON:0005660	2nd arch ectoderm	biolink:AnatomicalEntity	mondo			2nd pharyngeal arch ectoderm	http://purl.obolibrary.org/obo/UBERON_0005660	An ectoderm that is part of a pharyngeal arch 2.	
UBERON:0005669	peritoneal cavity mesothelium	biolink:AnatomicalEntity	mondo			mesothelium of peritoneum|mesothelium of peritoneal component|peritoneal mesothelium|peritoneum|peritoneum mesothelium	http://purl.obolibrary.org/obo/UBERON_0005669	A mesothelium that is part of a peritoneal cavity.	
CHEBI:46629	oxo group	biolink:ChemicalSubstance	mondo			=O|oxo|OXO GROUP	http://purl.obolibrary.org/obo/CHEBI_46629		
UBERON:0005667	connecting stalk mesoderm	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005667		
UBERON:0005666	4th arch endoderm	biolink:AnatomicalEntity	mondo			4th pharyngeal arch endoderm	http://purl.obolibrary.org/obo/UBERON_0005666	An endoderm that is part of a pharyngeal arch 4.	
UBERON:0005665	3rd arch endoderm	biolink:AnatomicalEntity	mondo			3rd pharyngeal arch endoderm	http://purl.obolibrary.org/obo/UBERON_0005665	An endoderm that is part of a pharyngeal arch 3.	
UBERON:0005664	2nd arch endoderm	biolink:AnatomicalEntity	mondo			2nd pharyngeal arch endoderm	http://purl.obolibrary.org/obo/UBERON_0005664	An endoderm that is part of a pharyngeal arch 2.	
FOODON:03302116	cow milk (liquid)	biolink:OntologyClass	mondo	SUBSET_SIREN:F2116	"subset_siren"	cow milk|milk	http://purl.obolibrary.org/obo/FOODON_03302116		
HGNC:3858	FRA16B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3858		
UBERON:0017635	paired venous dural sinus	biolink:AnatomicalEntity	mondo			paired dural venous sinus	http://purl.obolibrary.org/obo/UBERON_0017635		
UBERON:0005658	secondary palatal shelf epithelium	biolink:AnatomicalEntity	mondo			palatal shelf epithelium	http://purl.obolibrary.org/obo/UBERON_0005658	An epithelium that is part of a secondary palatal shelf.	
UBERON:0005656	lens vesicle epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005656	An epithelium that is part of a lens vesicle.	
HGNC:3861	FRA16E	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3861		
UBERON:0005652	pedal digit 5 epithelium	biolink:AnatomicalEntity	mondo			foot digit 5 epithelium|hind limb digit 5 epithelium|pedal digit V epithelium	http://purl.obolibrary.org/obo/UBERON_0005652	An epithelium that is part of a pedal digit 5.	
UBERON:0005638	anterior chamber epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005638	An epithelium that is part of a anterior chamber of eyeball.	
UBERON:0005648	manual digit 5 epithelium	biolink:AnatomicalEntity	mondo			fore limb digit 5 epithelium|manual digit V epithelium|hand digit 5 epithelium	http://purl.obolibrary.org/obo/UBERON_0005648	An epithelium that is part of a manual digit 5.	
MONDO:0018084	Uhl anomaly	biolink:Disease	mondo	GARD:0005393|MESH:C536932|MedDRA:10048951|Orphanet:3403|ICD10:Q24.8	ordo_morphological_anomaly	Uhl's anomaly|parchment right ventricle	http://purl.obolibrary.org/obo/MONDO_0018084	Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation.	ORPHA:3403|MEDDRA:10048951|UMLS:C0265857|MESH:C536932
MONDO:0018083	transient tyrosinemia of the newborn	biolink:Disease	mondo	ICD10:P74.5|UMLS:CN204402|Orphanet:3402|GARD:0005388	ordo_disease	tyrosine-oxidase temporary deficiency|transient tyrosinemia of the neonate|transient neonatal tyrosinemia	http://purl.obolibrary.org/obo/MONDO_0018083	Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age.	UMLS:CN204402|ORPHA:3402
MONDO:0018086	ulerythema ophryogenesis	biolink:Disease	mondo	GARD:0005395|Orphanet:3406	gard_rare|ordo_disease	keratosis pilaris affecting the follicles of the eyebrow hairs|type of genodermatosis	http://purl.obolibrary.org/obo/MONDO_0018086	Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.	ORPHA:3406
MONDO:0018085	umbilical cord ulceration-intestinal atresia syndrome	biolink:Disease	mondo	MESH:C536938|Orphanet:3405|UMLS:C2931371|GARD:0005403	ordo_malformation_syndrome	umbilical cord ulcer with intestinal atresia|umbilical ulceration and intestinal atresia|umbilical cord ulceration and intestinal atresia	http://purl.obolibrary.org/obo/MONDO_0018085	Umbilical cord ulceration-intestinal atresia syndrome is characterised by congenital intestinal atresia, umbilical cord ulceration and severe intrauterine haemorrhage.	UMLS:C2931371|ORPHA:3405|MESH:C536938
MONDO:0018080	obsolete rare germ cell tumor	biolink:Disease	mondo	SCTID:402878003|Orphanet:3399	obsoletion_candidate|ordo_group_of_disorders	rare germ cell tumor|germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0018080	Rare germ cell tumor.	ORPHA:3399|SNOMEDCT:402878003
MONDO:0018082	aorto-ventricular tunnel (disease)	biolink:Disease	mondo	HP:0011627|UMLS:CN225932|ICD10:Q20.8|Orphanet:3400	ordo_morphological_anomaly	aorto-ventricular tunnel	http://purl.obolibrary.org/obo/MONDO_0018082	Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle.	ORPHA:3400|UMLS:CN225932
MONDO:0018081	hemorrhagic fever-renal syndrome	biolink:Disease	mondo	Orphanet:340|ICD10:A98.5+|ICD10:N08.0*|MedDRA:10023484|UMLS:CN204401|MESH:C535630|UMLS:C2930957	ordo_disease	Hantavirus fever|Hantavirosis	http://purl.obolibrary.org/obo/MONDO_0018081	Hemorrhagic fever with renal syndrome (HFRS) is a rodent-borne potentially severe hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations.	UMLS:CN204401|UMLS:C2930957|MEDDRA:10023484|ORPHA:340|UMLS:C0019101|MESH:C535630|MESH:D006480
GO:0043576	regulation of respiratory gaseous exchange	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0043576	Any process that modulates the frequency, rate or extent of the process of gaseous exchange between an organism and its environment.	
MONDO:0006099	obsolete B-cell prolymphocytic leukemia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006099		
MONDO:0006097	atypical lipomatous tumor	biolink:Disease	mondo	NCIT:C6505|ICDO:8850/1|DOID:5690|EFO:1000099		well differentiated liposarcoma of superficial soft tissue|Atypical lipoma|liposarcoma, well differentiated (morphologic abnormality)|well differentiated liposarcoma|lipoma-like liposarcoma|superficial well differentiated liposarcoma|ALT	http://purl.obolibrary.org/obo/MONDO_0006097	An intermediate, locally aggressive lipomatous neoplasm. Microscopically, the adipose tissue contains large and pleomorphic lipoblasts, and is dissected by fibrous septa containing spindle cells. It requires a wide local excision, may recur locally, but never metastasizes.	NCIT:C6505|DOID:5690
MONDO:0006098	atypical lobular breast hyperplasia	biolink:Disease	mondo	SCTID:450697004|NCIT:C4730|EFO:1000100|ICD9:610.8		atypical lobular hyperplasia of breast|atypical lobular hyperplasia of the breast|atypical lobular breast hyperplasia|atypical lobular hyperplasia|ALH|atypical breast lobular hyperplasia	http://purl.obolibrary.org/obo/MONDO_0006098	Lobular neoplasia characterized by lobular epithelial proliferation that does not completely fill the lobular unit of the breast.	SNOMEDCT:450697004|NCIT:C4730
MONDO:0006095	atypical carcinoid tumor	biolink:Disease	mondo	NCIT:C72074|COHD:40482859|SCTID:445238008|UMLS:C1266032|UMLS:C0391970|EFO:1000097		atypical carcinoid tumor|malignant carcinoid tumor	http://purl.obolibrary.org/obo/MONDO_0006095	A carcinoid tumor characterized by a high mitotic rate, often associated with the presence of necrosis and nuclear pleomorphism.	NCIT:C72074|UMLS:C1266032|UMLS:C0391970|SNOMEDCT:445238008
MONDO:0006096	atypical endometrial hyperplasia	biolink:Disease	mondo	NCIT:C4654|UMLS:C0349579|COHD:195316|SCTID:277158007|ICD9:621.33|EFO:1000098		atypical hyperplasia of the endometrium|atypical hyperplasia of endometrium|endometrial hyperplasia with atypia	http://purl.obolibrary.org/obo/MONDO_0006096	An endometrial hyperplasia characterized by cytologic and architectural changes which may lead to endometrial carcinoma. Despite the atypical features and possible course, there is debate on whether to consider this a neoplasm. The relationship with endometrial intraepithelial neoplasia is also unclear.	UMLS:C0349579|NCIT:C4654|SNOMEDCT:277158007
MONDO:0006093	ascending colon neuroendocrine tumor G1	biolink:Disease	mondo	EFO:1000094|UMLS:C1332340|NCIT:C6427		ascending colon carcinoid tumor|ascending colon carcinoid tumor|ascending colon neuroendocrine tumor G1|ascending colon carcinoid tumor (disease)|ascending colon neuroendocrine tumor, well differentiated, low grade|grade 1 neuroendocrine neoplasm of ascending colon|ascending colon NET G1|carcinoid tumor of the ascending colon|carcinoid tumor of ascending colon|ascending colon neuroendocrine neoplasm G1	http://purl.obolibrary.org/obo/MONDO_0006093	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ascending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	NCIT:C6427|UMLS:C1332340
MONDO:0006094	Askin tumor	biolink:Disease	mondo	EFO:1000095|DOID:0050608|UMLS:C0877849|NCIT:C7542|ICDO:9365/3		Askin tumor|peripheral neuroectodermal tumor of thoracopulmonary region|small cell tumor of thoracopulmonary region|Askin's tumor|PNET of thoracopulmonary region	http://purl.obolibrary.org/obo/MONDO_0006094	A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma.	UMLS:C0877849|DOID:0050608|NCIT:C7542
MONDO:0006091	appendix neuroendocrine tumor G1	biolink:Disease	mondo	EFO:1000092|DOID:0050911|ICDO:8240/1|UMLS:C0334298|NCIT:C4138|SCTID:253002004|ICD9:209.11|COHD:437238		appendix carcinoid tumor|vermiform appendix carcinoid tumor|appendiceal carcinoid tumor|appendix carcinoid endocrine tumour|vermiform appendix neuroendocrine tumor, well differentiated, low grade|appendix NET G1 (carcinoid)|vermiform appendix carcinoid tumor (disease)|appendix neuroendocrine tumor G1 (carcinoid)|grade 1 neuroendocrine neoplasm of vermiform appendix|vermiform appendix carcinoid tumor|vermiform appendix neuroendocrine neoplasm G1|carcinoid tumor of appendix|carcinoid tumor of the appendix|vermiform appendix NET G1|appendix NET G1	http://purl.obolibrary.org/obo/MONDO_0006091	A well differentiated, low grade tumor with neuroendocrine differentiation that arises from the appendix. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	NCIT:C4138|UMLS:C0334298|SNOMEDCT:253002004|DOID:0050911
PATO:0001332	amorphous	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0001332	A morphology quality inhering in a bearer by virtue of the bearer's lack of distinct morphology.	
MONDO:0006092	appendix villous adenoma	biolink:Disease	mondo	EFO:1000093|UMLS:C1332329|NCIT:C5512		vermiform appendix villous adenoma|villous adenoma of appendix|villous adenoma of the appendix|appendix villous adenoma	http://purl.obolibrary.org/obo/MONDO_0006092	An adenoma arising from the appendix. It is characterized by the presence of villous epithelial structures and it is associated with dysplasia.	NCIT:C5512|UMLS:C1332329
MONDO:0006090	appendix hyperplastic polyp	biolink:Disease	mondo	NCIT:C96416|UMLS:C3272761|EFO:1000091		appendix metaplastic polyp|vermiform appendix hyperplastic polyp	http://purl.obolibrary.org/obo/MONDO_0006090	A non-neoplastic polyp that arises from the appendix. It is characterized by the presence of elongated serrated crypts and the absence of atypia or dysplasia.	NCIT:C96416|UMLS:C3272761
MONDO:0018088	familial Mediterranean fever	biolink:Disease	mondo	NCIT:C84707|UMLS:C0031069|GARD:0006421|MESH:D010505|COHD:193445|MedDRA:10016207|ICD10:E85.0|DOID:2987|Orphanet:342|SCTID:12579009|ICD9:277.31	ordo_disease	benign paroxysmal peritonitis|benign recurrent polyserositis|periodic disease|FMF|familial paroxysmal polyserositis	http://purl.obolibrary.org/obo/MONDO_0018088	Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.	MESH:D010505|SNOMEDCT:12579009|DOID:2987|NCIT:C84707|UMLS:C0585274|UMLS:C0031069|ORPHA:342|MEDDRA:10016207
MONDO:0018087	viral hemorrhagic fever	biolink:Disease	mondo	COHD:4347554|MESH:D006482|NCIT:C36170|UMLS:CN204409|Orphanet:341|UMLS:C0019104|GARD:0005494|SCTID:240523007	gard_rare|ordo_group_of_disorders	hemorrhagic fevers|VHFs|viral haemorrhagic fever|haemorrhagic fevers, viral|haemorrhagic fever|hemorrhagic fever|VHF	http://purl.obolibrary.org/obo/MONDO_0018087	Viral hemorrhagic fever is a group of recently discovered contagious viral infections characterized by severe, multiple, and often fatal hemorrhages. African fevers include Lassa fever discovered in 1969, Marburg's disease that first occurred in 1967, and Ebola fever that appeared in 1976. Other viruses may also cause hemorrhagic fevers (for example, arbovirus fever).	MESH:D006482|UMLS:CN204409|NCIT:C36170|ORPHA:341|SNOMEDCT:240523007|UMLS:C0019104
MONDO:0018089	double outlet right ventricle	biolink:Disease	mondo	SCTID:204299009|GARD:0001908|ICD10:Q20.1|UMLS:C0013069|MESH:D004310|NCIT:C98916|MedDRA:10013611|DOID:6406|Orphanet:3426|COHD:313867	ordo_morphological_anomaly|gard_rare	double outlet right ventricle with subpulmonary ventricular septal defect|Dextrotransposition of aorta|double outlet right ventricle|DORV|Taussig-Bing syndrome or defect	http://purl.obolibrary.org/obo/MONDO_0018089	Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle.	NCIT:C98916|SNOMEDCT:204299009|MESH:D004310|MEDDRA:10013611|ORPHA:3426|DOID:6406|UMLS:C0013069
MONDO:0018073		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018073		
MONDO:0018072	persistent truncus arteriosus (disease)	biolink:Disease	mondo	Orphanet:3384|GARD:0007375|ICD10:Q20.0|NCIT:C98880|COHD:441950	ordo_morphological_anomaly	truncus arteriosus|common aorticopulmonary trunk|persistent truncus arteriosus|common truncus arteriosus|common arterial trunk|TAC	http://purl.obolibrary.org/obo/MONDO_0018072	A rare congenital cardiovascular disorder characterized by the failure of the embryologic structure truncus arteriosus to divide into the aorta and pulmonary trunk. It results in the presence of a single vessel instead of two vessels leading out of the heart. Clinical signs and symptoms include cyanosis that is present at birth, poor growth, dyspnea, tachypnea, arrhythmia, cardiomegaly, and heart failure. If it is not surgically repaired, it leads to death.	NCIT:C98880|ORPHA:3384
MONDO:0018075	neural tube defect	biolink:Disease	mondo	Orphanet:3388|DOID:0080074|SCTID:253098009|ICD9:742.8|MESH:D009436|NCIT:C84923	ordo_group_of_disorders	spinal dysraphism|NTD	http://purl.obolibrary.org/obo/MONDO_0018075	A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida.	NCIT:C84923|ORPHA:3388|DOID:0080074|MESH:D009436|SNOMEDCT:253098009
MONDO:0018074	obsolete American trypanosomiasis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018074		
MONDO:0018071	trisomy 18	biolink:Disease	mondo	ICD9:758.2|DOID:1085|NCIT:C36626|MedDRA:10053884|MESH:C580500|Orphanet:3380|ICD10:Q91.2|UMLS:C0152096|ICD10:Q91.1|ICD10:Q91.3|ICD10:Q91.0|SCTID:51500006|GARD:0006321	ordo_malformation_syndrome	trisomy type 18|trisomy E (formerly)|18 trisomy|complete trisomy 18 syndrome|trisomy 18|chromosome 18 duplication|Edwards syndrome|chromosome 18 trisomy|trisomy 16-18 (formerly)|E3 trisomy	http://purl.obolibrary.org/obo/MONDO_0018071	Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations.	DOID:1085|MESH:C580500|SNOMEDCT:51500006|UMLS:C0152096|ORPHA:3380|NCIT:C36626|MEDDRA:10053884
MONDO:0018070	familial multiple fibrofolliculoma	biolink:Disease	mondo	UMLS:C4509837|GARD:0003831|Orphanet:338|SCTID:723361006|UMLS:CN204388	ordo_disease|gard_rare	multiple fibrofolliculoma familial	http://purl.obolibrary.org/obo/MONDO_0018070	Familial multiple fibrofolliculoma is a genodermatosis characterised by the presence of multiple hamartomas of the hair follicle. It has been described in one family so far.	SNOMEDCT:723361006|UMLS:C4509837|UMLS:CN204388|ORPHA:338
GO:0043588	skin development	biolink:OntologyClass	mondo			animal skin development	http://purl.obolibrary.org/obo/GO_0043588	The process whose specific outcome is the progression of the skin over time, from its formation to the mature structure. The skin is the external membranous integument of an animal. In vertebrates the skin generally consists of two layers, an outer nonsensitive and nonvascular epidermis (cuticle or skarfskin) composed of cells which are constantly growing and multiplying in the deeper, and being thrown off in the superficial layers, as well as an inner vascular dermis (cutis, corium or true skin) composed mostly of connective tissue.	
MONDO:0018077	tularemia	biolink:Disease	mondo	MESH:D014406|ICD9:021.9|NCIT:C85208|DOID:2123|SCTID:19265001|GARD:0000396|ICD9:021.8|ICD10:A21.3|ICD10:A21.2|ICD10:A21.1|ICD10:A21|ICD10:A21.0|Orphanet:3392|MedDRA:10045146|UMLS:C0041351|ICD10:A21.9|EFO:1001444|ICD10:A21.8|ICD10:A21.7	ordo_disease|gard_rare	Ohara disease|Francisella tularensis infectious disease|Yatobyo (Japan)|Francisella tularensis caused disease or disorder|rabbit fever|lemming fever|Pahvant Valley plague|Francisella tularensis infection|Deerfly fever|Francisella tularensis disease or disorder	http://purl.obolibrary.org/obo/MONDO_0018077	Tularemia is an infection caused by the bacterium Francisella tularensis. It is more common in rodents and rabbits but has been found in other animals including domestic cats, sheep, birds, and hamsters. Humans can become infected in several different ways: by handling infected animals, through tick or deer fly bites, by drinking contaminated water, or by inhaling contaminated dust or aerosols. Person-to-person transmission has not been reported. The type of tularemia and the particular signs and symptoms vary depending on how the bacteria enter the body. However, fever is seen in most cases. Though tularemia can be life-threatening, most infections can be treated with antibiotics.	DOID:2123|MEDDRA:10045146|NCIT:C85208|ORPHA:3392|MESH:D014406|SNOMEDCT:19265001|UMLS:C0041351
MONDO:0018076	tuberculosis	biolink:Disease	mondo	COHD:434557|Orphanet:3389|UMLS:C0041296|ICD9:017.96|MedDRA:10044755|SCTID:56717001|DOID:399|ICD9:017.94|ICD10:A15.A19|UMLS:C0151332|ICD9:017.92|NCIT:C3423|ICD9:017.90|GARD:0007827|MESH:D014376	gard_rare|ordo_disease	tuberculosis disease|active tuberculosis|Kochs disease|TB	http://purl.obolibrary.org/obo/MONDO_0018076	A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use.	MEDDRA:10044755|NCIT:C3423|ORPHA:3389|MESH:D014376|UMLS:C0151332|DOID:399|UMLS:C0041296|SNOMEDCT:56717001
MONDO:0018079	thymic epithelial neoplasm	biolink:Disease	mondo	ICD10:D15.0|NCIT:C6450|Orphanet:3398|ONCOTREE:TET|MESH:C536905|GARD:0005201|UMLS:C1266101|ICD10:C37	ordo_group_of_disorders	Tet|epithelial neoplasm of Thymus|epithelial neoplasm of the Thymus|epithelial tumor of Thymus|TEN|thymoma, adult|epithelial tumor of the Thymus|thymus epithelial neoplasm|Thymus epithelial tumor|thymic epithelial tumor|Thymus epithelial neoplasm|thymic epithelium neoplasm	http://purl.obolibrary.org/obo/MONDO_0018079	An epithelial neoplasm that affects the thymus gland. This category includes thymomas and carcinomas.	MESH:C536905|NCIT:C6450|ORPHA:3398|UMLS:C1266101
MONDO:0018078	soft tissue sarcoma	biolink:Disease	mondo	GARD:0004898|UMLS:CN204398|EFO:1001968|Orphanet:3394|NCIT:C9306|SCTID:424952003	ordo_group_of_disorders|gard_rare	non-rhabdomyosarcoma soft tissue sarcoma, NOS|malignant soft tissue tumor|malignant mesenchymal tumor|soft tissue sarcoma|sarcoma of the soft tissue|sarcoma of soft tissue|non-Rhabdo. soft tissue sarcoma|connective tissue sarcoma|soft part sarcoma	http://purl.obolibrary.org/obo/MONDO_0018078	A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones.	UMLS:CN204398|SNOMEDCT:424952003|ORPHA:3394|NCIT:C9306
MONDO:0018062	autosomal dominant trichoodontoonychodysplasia-syndactyly	biolink:Disease	mondo	MESH:C536565|GARD:0005376|Orphanet:3357|UMLS:C2931239	ordo_malformation_syndrome	Trueb Burg Bottani syndrome|Tricho-odonto-onychodysplasia with syndactyly|Trueb-Burg-Bottani syndrome|ectodermal dysplasia with corkscrew hairs	http://purl.obolibrary.org/obo/MONDO_0018062		UMLS:C2931239|ORPHA:3357|MESH:C536565
MONDO:0018061	trichodermodysplasia-dental alterations syndrome	biolink:Disease	mondo	MESH:C537402|UMLS:C2931485|Orphanet:3353|GARD:0004369	ordo_malformation_syndrome	Trichodermodysplasia with dental alterations|Pinheiro Freire-Maia Miranda syndrome|Pinheiro-Freire Maia-Miranda syndrome	http://purl.obolibrary.org/obo/MONDO_0018061	Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, cafC)-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986.	UMLS:C2931485|ORPHA:3353|MESH:C537402
MONDO:0018064	trigonocephaly-broad thumbs syndrome	biolink:Disease	mondo	Orphanet:3365|ICD10:Q87.0|GARD:0002756|SCTID:719949001	ordo_malformation_syndrome	Hunter Rudd Hoffmann syndrome|Hunter-Rudd-Hoffmann syndrome	http://purl.obolibrary.org/obo/MONDO_0018064	Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait.	SNOMEDCT:719949001|ORPHA:3365
MONDO:0018063	nodular non-suppurative panniculitis	biolink:Disease	mondo	DOID:1525|Orphanet:33577|UMLS:C0030328|SCTID:33760009|GARD:0007879|EFO:1000742|ICD10:M35.6|MESH:D010201|MedDRA:10047883	ordo_disease	panniculitis nodular nonsuppurative|Weber Christian disease|idiopathic nodular panniculitis|Weber-Christian panniculitis|Weber - Christian disease|Pfeiffer-Weber-Christian syndrome|nodular non-suppurative febrile panniculitis|Weber-Christian disease|WCD|Relapsing febrile nodular nonsuppurative panniculitis|Relapsing febrile nodular panniculitis|idiopathic lobular panniculitis|nodular nonsuppurative panniculitis	http://purl.obolibrary.org/obo/MONDO_0018063	Nodular non-suppurative panniculitis, known as Weber-Christian disease (WCD), is a rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat.	MEDDRA:10047883|MESH:D010201|DOID:1525|SNOMEDCT:33760009|ORPHA:33577|UMLS:C0030328
MONDO:0018060	congenital fibrinogen deficiency	biolink:Disease	mondo	Orphanet:335|GARD:0002320|ICD10:D68.2	ordo_disease|gard_rare	fibrinogen deficiency, congenital	http://purl.obolibrary.org/obo/MONDO_0018060	Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia).	ORPHA:335
MONDO:0043069	Zerres Rietschel Majewski syndrome	biolink:Disease	mondo	GARD:0000338|MESH:C536724|UMLS:C2931301	gard_rare	postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and intellectual disability|postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation	http://purl.obolibrary.org/obo/MONDO_0043069		MESH:C536724|UMLS:C2931301
MONDO:0006079	ameloblastic carcinoma	biolink:Disease	mondo	ICD10:C41.1|EFO:1000078|NCIT:C7492|Orphanet:314422|UMLS:C1314678|GARD:0011855	gard_rare|ordo_disease	odontoma, ameloblastic, malignant|ameloblastic carcinoma	http://purl.obolibrary.org/obo/MONDO_0006079	A rare, cytologically malignant ameloblastoma that may metastasize.	UMLS:C1314678|ORPHA:314422|NCIT:C7492
MONDO:0006077	adrenal medullary hyperplasia	biolink:Disease	mondo	NCIT:C35838|EFO:1000076		adrenal medulla hyperplasia	http://purl.obolibrary.org/obo/MONDO_0006077	A hyperplasia that involves the adrenal medulla.	NCIT:C35838
MONDO:0006078	AIDS-related primary central nervous system lymphoma	biolink:Disease	mondo	EFO:1000077|NCIT:C8284|UMLS:C0281241		AIDS-related primary CNS lymphoma|AIDS related lymphoma of primary central nervous system|AIDS related primary central nervous system lymphoma|AIDS related lymphoma of the primary central nervous system|AIDS-related lymphoma of primary central nervous system|AIDS-related lymphoma of the primary central nervous system|AIDS related primary CNS lymphoma	http://purl.obolibrary.org/obo/MONDO_0006078	A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients.	NCIT:C8284|UMLS:C0281241
MONDO:0006075	adrenal gland myelolipoma	biolink:Disease	mondo	NCIT:C3736|EFO:1000074|SCTID:719049003|MESH:D018209|UMLS:C0206635|ICDO:8870/0		Myelolipoma|MYELOLIPOMA, benign|adrenal gland myelolipoma	http://purl.obolibrary.org/obo/MONDO_0006075	A benign soft tissue lesion arising from the adrenal gland. It is composed of mature adipose and hematopoietic/lymphoid tissues.	UMLS:C0206635|MESH:D018209|SNOMEDCT:719049003|NCIT:C3736
MONDO:0006076	adrenal gland neuroblastoma	biolink:Disease	mondo	UMLS:C0559460|EFO:1000075|SCTID:281562007|NCIT:C4827|DOID:5718		neuroblastoma of adrenal gland|adrenal neuroblastoma|neuroblastoma of the adrenal gland|neuroblastoma of the adrenal|neuroblastoma of adrenal|adrenal gland neuroblastoma	http://purl.obolibrary.org/obo/MONDO_0006076	A neuroblastoma arising from the adrenal gland.	DOID:5718|UMLS:C0559460|SNOMEDCT:281562007|NCIT:C4827
MONDO:0006073	adenomatoid odontogenic tumor	biolink:Disease	mondo	MESH:C538229|ICDO:9300/0|EFO:1000072|NCIT:C4310		adenomatoid odontogenic neoplasm	http://purl.obolibrary.org/obo/MONDO_0006073	A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare.	NCIT:C4310|MESH:C538229
MONDO:0006074	adenosquamous carcinoma	biolink:Disease	mondo	ICDO:8560/3|DOID:4830|MESH:D018196|EFO:1000073|SCTID:403902008|NCIT:C3727|UMLS:C0206623		mixed adenocarcinoma and squamous carcinoma|mixed adenocarcinoma and squamous cell carcinoma|adenosquamous carcinoma (morphologic abnormality)|adenosquamous carcinoma|mixed adenocarcinoma and epidermoid cell carcinoma|mixed adenocarcinoma and epidermoid carcinoma|carcinoma, adenosquamous, malignant|adenosquamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006074	A carcinoma composed of malignant glandular cells and malignant squamous cells.	UMLS:C0206623|DOID:4830|MESH:D018196|SNOMEDCT:403902008|NCIT:C3727
MONDO:0006071	adenofibroma	biolink:Disease	mondo	DOID:2683|ICDO:9013/0|EFO:1000070|MESH:D000232|UMLS:C0001422|NCIT:C8984		adenofibroma, no ICD-O subtype (morphologic abnormality)|female reproductive system adenofibroma|adenofibroma, no ICD-O subtype|benign mixed Muellerian tumor|adenofibroma, benign	http://purl.obolibrary.org/obo/MONDO_0006071	A benign neoplasm characterized by the presence of connective tissue stroma and epithelial structures. It occurs in the ovary, fallopian tube, uterine corpus, and cervix. Cases of adenofibroma of the ovary with low grade malignant potential have also been reported.	NCIT:C8984|DOID:2683|UMLS:C0001422|MESH:D000232
MONDO:0006072	obsolete adenoid cystic breast carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006072	An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent.	
MONDO:0006070	obsolete acute leukemia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006070		
MONDO:0018069	distal trisomy 17q	biolink:Disease	mondo	ICD10:Q92.3|Orphanet:3379|SCTID:766051001	ordo_malformation_syndrome	trisomy 17qter|distal duplication 17q|telomeric duplication 17q|distal trisomy type 17q	http://purl.obolibrary.org/obo/MONDO_0018069	Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated.	MESH:C536579|SNOMEDCT:766051001|UMLS:C2931247|ORPHA:3379
MONDO:0018066	trisomy X	biolink:Disease	mondo	SCTID:35111009|ICD10:Q97.0|UMLS:C0221033|NCIT:C129718|Orphanet:3375|GARD:0005672|MESH:C535318	ordo_malformation_syndrome|gard_rare	Triplo X syndrome|Triplo-X syndrome|trisomy X|47 XXX syndrome|47,XXX syndrome|trisomy type X|triple X syndrome|triple-X female|47,XXX|triple-X chromosome syndrome|XXX syndrome	http://purl.obolibrary.org/obo/MONDO_0018066	Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX).	NCIT:C129718|UMLS:C0221033|MESH:C535318|ORPHA:3375|MESH:D014314|SNOMEDCT:35111009
HGNC:31399	SLC6A17	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/31399		
MONDO:0018065	isolated trigonocephaly	biolink:Disease	mondo	Orphanet:3366|UMLS:CN236409|OMIMPS:190440|ICD10:Q75.0|UMLS:CN239481	ordo_morphological_anomaly	nonsyndromic trigonocephaly|non-syndromic metopic craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0018065	Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture.	UMLS:CN236409|ORPHA:3366|UMLS:CN239481
MONDO:0018068	trisomy 13	biolink:Disease	mondo	MESH:C536305|Orphanet:3378|ICD10:Q91.6|ICD10:Q91.7|ICD10:Q91.5|ICD10:Q91.4|DOID:11665|UMLS:CN204386|GARD:0007341|SCTID:21111006|UMLS:C0152095|MedDRA:10044686|ICD9:758.1|NCIT:C101223|NCIT:C36529	ordo_malformation_syndrome	trisomy 13|chromosome 13, trisomy 13 complete|trisomy type 13|Patau's syndrome|D1 trisomy|D trisomy syndrome (formerly)|Patau syndrome|complete trisomy 13 syndrome	http://purl.obolibrary.org/obo/MONDO_0018068	Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation.	UMLS:C2936830|MESH:C536305|NCIT:C101223|SNOMEDCT:21111006|DOID:11665|MEDDRA:10044686|UMLS:CN204386|UMLS:C0152095|ORPHA:3378|NCIT:C36529
MONDO:0018067	triploidy	biolink:Disease	mondo	Orphanet:3376|NCIT:C85204|ICD9:758.89|MESH:D057885|ICD10:Q92.7|SCTID:66651005|GARD:0005295|UMLS:C0333693	ordo_malformation_syndrome|gard_rare	triploid syndrome|triploidy syndrome|chromosome triploidy syndrome	http://purl.obolibrary.org/obo/MONDO_0018067	Triploidy is a chromosome abnormality that occurs when there is an extra set of chromosomes present in each cell. Most pregnancies affected by triploidy are lost through early miscarriage. However, reports exist of some affected babies living up to five months. Those that survive are often mosaic. The signs and symptoms associated with triploidy vary but may include a variety of birth defects and an unusually small size. This condition does not run in families and is not associated with maternal or paternal age. Treatment is based on the signs and symptoms present in each person.	NCIT:C85204|ORPHA:3376|UMLS:C0333693|SNOMEDCT:66651005|MESH:D057885
MONDO:0018051	Jessner lymphocytic infiltration of the skin	biolink:Disease	mondo	ICD10:L98.6|Orphanet:33314|UMLS:C0580181|GARD:0006940	ordo_disease|gard_rare	Jessner-Kanof syndrome|benign chronic T-cell infiltrative disorder|benign lymphocytic infiltration|Jessner disease|lymphocytic infiltrate of Jessner|Jessner-Kanof lymphocytic infiltration of the skin	http://purl.obolibrary.org/obo/MONDO_0018051	Jessner lymphocytic infiltration of the skin (JLIS) is a chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck.	UMLS:C0580181|ORPHA:33314
MONDO:0043073	Zadik-Barak-Levin syndrome	biolink:Disease	mondo	UMLS:C2931298|MESH:C536721|GARD:0000340	gard_rare	dermoid cysts, hypothyroidism, cleft palate and hypodontia|dermoid cysts, hypothyroidism, cleft palate, and hypodontia	http://purl.obolibrary.org/obo/MONDO_0043073		MESH:C536721|UMLS:C2931298
MONDO:0018050	tibial aplasia-ectrodactyly syndrome	biolink:Disease	mondo	Orphanet:3329|ICD10:Q73.8|GARD:0001369	ordo_malformation_syndrome|gard_rare	SHFM associated with aplasia of long bones|split-hand/foot malformation with long bone deficiency|TH-SHFM|tibial hemimelia with split hand/foot malformation|aplasia of tibia with ectrodactyly|SHFLD|tibial aplasia with split-hand/split-foot deformity|split hand/foot malformation with long bone deficiency|ectrodactyly with aplasia of long bones|tibial hemimelia-ectrodactyly syndrome|split-hand/foot malformation associated with aplasia of long bones|aplasia of tibia with split-hand/split-foot deformity|SHFLD syndrome	http://purl.obolibrary.org/obo/MONDO_0018050	Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.	ORPHA:3329
MONDO:0018053	trichothiodystrophy	biolink:Disease	mondo	ICD10:L67.8|OMIMPS:601675|MedDRA:10044628|GARD:0012109|NCIT:C4924|SCTID:723551003|Orphanet:33364|UMLS:C1955934	ordo_disease	trichothiodystrophy syndrome	http://purl.obolibrary.org/obo/MONDO_0018053	Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins).	MESH:D054463|MESH:C536559|MEDDRA:10044628|UMLS:C1955934|NCIT:C4924|ORPHA:33364|SNOMEDCT:723551003|UMLS:C0740342
MONDO:0043075	neuroaxonal dystrophy renal tubular acidosis	biolink:Disease	mondo	UMLS:C2931479|MESH:C537386|GARD:0000349	gard_rare	CNS disorder characterized by severe behavioral retardation, hypotonia, inability to talk, marked tremors, gait disturbances and inability to concentr|Maccario Mena weir syndrome	http://purl.obolibrary.org/obo/MONDO_0043075		MESH:C537386|UMLS:C2931479
MONDO:0018052	hypoplastic tibiae-postaxial polydactyly syndrome	biolink:Disease	mondo	SCTID:716741008|ICD10:Q74.8|Orphanet:3332|UMLS:CN204341|DOID:0111564	ordo_malformation_syndrome	Werner mesomelic syndrome	http://purl.obolibrary.org/obo/MONDO_0018052	Hypoplastic tibia-polydactyly syndrome is a very rare congenital malformation syndrome characterized by bilateral hypoplasia of the tibia with polydactyly of the feet and hands.	DOID:0111564|SNOMEDCT:716741008|UMLS:CN204341|ORPHA:3332
MONDO:0043071	Zazam Sheriff Phillips syndrome	biolink:Disease	mondo	MESH:C536723|UMLS:C2931300|GARD:0000339	gard_rare	aniridia, lens luxation, mental retardation|aniridia, lens luxation, intellectual disability|aniridia, ectopia lentis, abnormal upper incisors and mental retardation|aniridia, ectopia lentis, abnormal upper incisors and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0043071		MESH:C536723|UMLS:C2931300
MONDO:0006088	appendix adenoma	biolink:Disease	mondo	UMLS:C1706829|NCIT:C43550|EFO:1000089		appendix adenoma|vermiform appendix adenoma	http://purl.obolibrary.org/obo/MONDO_0006088	A circumscribed neoplasm arising from the glandular epithelium of the appendix. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe.	UMLS:C1706829|NCIT:C43550
MONDO:0043077	weinstein kliman scully syndrome	biolink:Disease	mondo	UMLS:C2931289|MESH:C536688|GARD:0000392	gard_rare	primary testicular insufficiency with normal virilization, blindness, deafness and metabolic abnormalities|cardiomyopathy, hypogonadism and metabolic anomalies	http://purl.obolibrary.org/obo/MONDO_0043077		MESH:C536688|UMLS:C2931289
MONDO:0006089	appendix goblet cell carcinoid	biolink:Disease	mondo	ONCOTREE:GCCAP|ICDO:8243/3|EFO:1000090|NCIT:C3689		appendix adenocarcinoid tumor|goblet cell carcinoid tumor|goblet cell carcinoid of appendix|goblet cell carcinoid of the appendix|mucinous carcinoid tumor|appendix goblet cell carcinoid tumor|appendix mixed carcinoid-adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006089	An invasive mixed adenoneuroendocrine carcinoma of the appendix characterized by a submucosal growth and the presence of neoplastic signet-ring cells resembling goblet cells of the intestine.	NCIT:C3689
MONDO:0006086	angiomyxoma	biolink:Disease	mondo	ICDO:8841/1|ICDO:8841/0|EFO:1000087|MESH:D009232|NCIT:C3254|SCTID:404083008|UMLS:C0027149|ICD9:215.9			http://purl.obolibrary.org/obo/MONDO_0006086	A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells in a myxoid stroma.	SNOMEDCT:404083008|NCIT:C3254|UMLS:C0027149|MESH:D009232
MONDO:0043079	acute articular rheumatism	biolink:Disease	mondo	GARD:0000518|SCTID:81077008	gard_rare	acute rheumatism|acute articular rheumatism|acute rheumatic arthritis	http://purl.obolibrary.org/obo/MONDO_0043079		SNOMEDCT:81077008
MONDO:0006087	appendix adenocarcinoma	biolink:Disease	mondo	EFO:1000088|ONCOTREE:APAD|DOID:3608|NCIT:C7718|UMLS:C0238003|SCTID:413445002|GARD:0010564		adenocarcinoma of the appendix|appendiceal adenocarcinoma|vermiform appendix adenocarcinoma|APAD|adenocarcinoma of appendix|appendix adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006087	A carcinoma that arises from glandular epithelial cells of the vermiform appendix.	DOID:3608|NCIT:C7718|SNOMEDCT:413445002|UMLS:C0238003
MONDO:0006084	obsolete angioleiomyoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006084		
MONDO:0006085	angiolipoma	biolink:Disease	mondo	MESH:D018206|EFO:1000085|UMLS:C0206632|ICDO:8861/0|DOID:3616|SCTID:404057003|NCIT:C3733		angiolipoma, benign	http://purl.obolibrary.org/obo/MONDO_0006085	A lipoma with prominent vascularity. The vascular tissue is more abundant at the periphery of the tumor and contains fibrin thrombi. It occurs more frequently in younger individuals as a painful subcutaneous nodule, often on the arms.	UMLS:C0206632|DOID:3616|MESH:D018206|NCIT:C3733|SNOMEDCT:404057003
CHEBI:4469	(S)-amphetamine	biolink:ChemicalSubstance	mondo			(2S)-1-phenylpropan-2-amine|(+)-alpha-methylphenethylamine|(S)-alpha-methylbenzeneethanamine|(alphaS)-alpha-methylbenzeneethanamine|(+)-(S)-amphetamine|(S)-(+)-amphetamine|dexamphetamine|(+)-amphetamine|d-amphetamine|(S)-amphetamine|Dextroamphetamine|(S)-1-phenyl-2-propylamine|(S)-(+)-beta-phenylisopropylamine|(+)-alpha-methylphenylethylamine|(S)-1-phenyl-2-aminopropane	http://purl.obolibrary.org/obo/CHEBI_4469	A 1-phenylpropan-2-amine that has S configuration.	
MONDO:0006082	anal squamous cell carcinoma	biolink:Disease	mondo	NCIT:C9161|EFO:1000081|ONCOTREE:ANSC|UMLS:C1412036|DOID:5525		epidermoid anal carcinoma|squamous cell carcinoma - anus|epidermoid carcinoma of anus|epidermoid carcinoma of the anus|anus squamous cell carcinoma|anal squamous cell cancer|squamous cell anal carcinoma|anal squamous cell carcinoma|squamous cell carcinoma of anus|ANSC|squamous cell carcinoma of the anus	http://purl.obolibrary.org/obo/MONDO_0006082	A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC.	UMLS:C1412036|NCIT:C9161|DOID:5525
MONDO:0006083	obsolete anaplastic large cell lymphoma, ALK-negative	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006083		
MONDO:0006080	obsolete ampulla of vater carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006080		
MONDO:0006081	anal melanoma	biolink:Disease	mondo	ONCOTREE:ARMM|EFO:1000080|SCTID:276821000|DOID:14145|UMLS:C0349538|NCIT:C4639		anal malignant melanoma|malignant anus melanoma|melanoma (disease) of anus|malignant melanoma of anus|melanoma of anus|malignant melanoma of the anus|anus melanoma|melanoma of the anus|anus melanoma (disease)|anal melanoma	http://purl.obolibrary.org/obo/MONDO_0006081	A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor.	UMLS:C0349538|NCIT:C4639|SNOMEDCT:276821000|DOID:14145
MONDO:0018059	meningococcal meningitis	biolink:Disease	mondo	MedDRA:10027249|ICD10:A39.0+|ICD10:G01*|ICD9:036.0|MedDRA:10027276|UMLS:C0025294|DOID:0080176|MESH:D008585|COHD:438338|EFO:1001040|Orphanet:33475|SCTID:192644005|ICD10:A39.0	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018059	An acute bacterial disease caused by Neisseria meningitides that presents usually, but not always, with a rash (non blanching petechial or purpuric rash), progressively developing signs of meningitis (fever, vomiting, headache, photophobia, and neck stiffness) and later leading to confusion, delirium and drowsiness. Neck stiffness and photophobia are often absent in infants and young children who may manifest nonspecific signs such as irritability, inconsolable crying, poor feeding, and a bulging fontanel. Meningococcal meningitis may also present as part of early or late onset sepsis in neonates. The disease is potentially fatal. Surviving patients may develop neurological sequelae that include sensorineural hearing loss, seizures, spasticity, attention deficits and intellectual disability.	SNOMEDCT:192644005|DOID:0080176|UMLS:C0025294|MESH:D008585|MEDDRA:10027249|ORPHA:33475
MONDO:0018058	tracheal agenesis	biolink:Disease	mondo	SCTID:3987009|NCIT:C35376|Orphanet:3346|GARD:0005233|UMLS:C1261567|ICD10:Q32.1|MESH:C536975	ordo_morphological_anomaly|gard_rare	congenital tracheal agenesis|tracheal absence|congenital absence of trachea	http://purl.obolibrary.org/obo/MONDO_0018058	Tracheal agenesis (TA) is a rare congenital malformation in which the trachea may be completely absent (agenesis), or partially in place but underdeveloped (atresia). In both cases, proximal-distal communication between the larynx and the alveoli of the lungs is lacking.	NCIT:C35376|MESH:C536975|SNOMEDCT:3987009|UMLS:C1261567|ORPHA:3346
MONDO:0018055	pediatric hepatocellular carcinoma	biolink:Disease	mondo	DOID:0070322|ICD10:C22.0|NCIT:C7955|GARD:0009331|UMLS:CN204349|Orphanet:33402	ordo_clinical_subtype	pediatric hepatoma|childhood carcinoma of the liver cell|childhood carcinoma of liver cell|pediatric liver cell carcinoma|childhood hepatocellular carcinoma|Pediatric carcinoma of the liver cell|childhood hepatoma|pediatric carcinoma of liver cell|childhood liver cell carcinoma|pediatric HCC|childhood hepatocellular carcinoma|childhood-onset HCC|hepatocellular cancer|childhood-onset hepatocellular carcinoma	http://purl.obolibrary.org/obo/MONDO_0018055	Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age.	NCIT:C7955|UMLS:CN204349|DOID:0070322|ORPHA:33402
MONDO:0018054	familial atrial fibrillation	biolink:Disease	mondo	UMLS:CN204347|ICD10:I48.9|Orphanet:334|DOID:0050650|GARD:0009740|OMIMPS:608583|SCTID:715395008	ordo_disease	autosomal dominant atrial fibrillation|ATFB|atrial fibrillation autosomal dominant|hereditary atrial fibrillation (disease)|atrial fibrillation, familial	http://purl.obolibrary.org/obo/MONDO_0018054	An autosomal dominant heart condition that causes disruptions in the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular.	ORPHA:334|DOID:0050650|UMLS:CN204347|SNOMEDCT:715395008
MONDO:0018057	obsolete toxocariasis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018057		
MONDO:0018056	bullous lichen planus	biolink:Disease	mondo	UMLS:C0023648|SCTID:6111009|ICD10:L43.1|NCIT:C34778|MedDRA:10056960|Orphanet:33408	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018056	Bullous lichen planus is a variant of rare lichen planus characterized by the development of vesico-bullous lesions.	SNOMEDCT:6111009|NCIT:C34778|UMLS:C0023648|MEDDRA:10056960|ORPHA:33408
HGNC:18391	SCGB3A2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18391		
GO:0006586	indolalkylamine metabolic process	biolink:OntologyClass	mondo			indolamine metabolism|indolamine metabolic process|indolalkylamine metabolism	http://purl.obolibrary.org/obo/GO_0006586	The chemical reactions and pathways involving indolalkylamines, indole or indole derivatives containing a primary, secondary, or tertiary amine group.	
MONDO:0043004	Weil's disease	biolink:Disease	mondo	SCTID:398067003|MESH:D014895		leptospirosis, icterohemorrhagic|Icterohemorrhagic leptospirosis|weil's disease|Weil disease|disease, Weil|spirochetal jaundice|Weils disease|Weil's disease|icteric leptospirosis|jaundice, spirochetal|disease, Weil's	http://purl.obolibrary.org/obo/MONDO_0043004	A jauncice caused by severe leptospirosis.	SNOMEDCT:398067003|MESH:D014895
MONDO:0043003	familial acanthosis nigricans	biolink:Disease	mondo	UMLS:C2930792|OMIM:100600|MESH:C531598		acanthosis nigricans|hereditary acanthosis nigricans (disease)	http://purl.obolibrary.org/obo/MONDO_0043003	An instance of acanthosis nigricans (disease) that is caused by an inherited modification of the individual's genome.	MESH:C531598|UMLS:C2930792|http://identifiers.org/omim/100600
GO:0006584	catecholamine metabolic process	biolink:OntologyClass	mondo			catecholamine metabolism	http://purl.obolibrary.org/obo/GO_0006584	The chemical reactions and pathways involving any of a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine.	
MONDO:0043005	genetic multiple congenital anomalies/dysmorphic syndrome	biolink:Disease	mondo	Orphanet:183533	ordo_group_of_disorders	hereditary multiple congenital anomalies/dysmorphic syndrome	http://purl.obolibrary.org/obo/MONDO_0043005	An instance of multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome.	ORPHA:183533
HGNC:31371	GPR179	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/31371		
MONDO:0033683	congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	biolink:Disease	mondo	Orphanet:508542	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0033683		ORPHA:508542
MONDO:0033682	skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	biolink:Disease	mondo	Orphanet:508533	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0033682		ORPHA:508533
HGNC:18398	SMARCAD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18398		
PATO:0001309	duration	biolink:OntologyClass	mondo			period|time	http://purl.obolibrary.org/obo/PATO_0001309	A process quality inhering in a bearer by virtue of the bearer's magnitude of the temporal extent between the starting and ending point.	
PATO:0001305	increased temperature	biolink:OntologyClass	mondo			hot|high temperature	http://purl.obolibrary.org/obo/PATO_0001305	A temperature which is relatively high.	
GO:0006591	ornithine metabolic process	biolink:OntologyClass	mondo			ornithine metabolism	http://purl.obolibrary.org/obo/GO_0006591	The chemical reactions and pathways involving ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis.	
PATO:0001306	decreased temperature	biolink:OntologyClass	mondo			cold|low temperature	http://purl.obolibrary.org/obo/PATO_0001306	A temperature which is relatively low.	
NCBITaxon:31704	Coxsackievirus A16	organism taxon	mondo	GC_ID:1		CVA-16|CVA16|Human coxsackievirus A16|Coxsackie A virus type 16|Human enterovirus CVA16|Coxsackie virus A-16|CV-A16	http://purl.obolibrary.org/obo/NCBITaxon_31704		
MONDO:0043008	genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	biolink:Disease	mondo	Orphanet:330206	ordo_group_of_disorders	hereditary multiple congenital anomalies/dysmorphic syndrome without intellectual disability|genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)|genetic MCA	http://purl.obolibrary.org/obo/MONDO_0043008	An instance of multiple congenital anomalies/dysmorphic syndrome without intellectual disability that is caused by an inherited modification of the individual's genome.	ORPHA:330206
MONDO:0043007	genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome	biolink:Disease	mondo	Orphanet:330197	ordo_group_of_disorders	genetic MCA/variable MR|genetic multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome|hereditary multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0043007	An instance of multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome that is caused by an inherited modification of the individual's genome.	ORPHA:330197
PATO:0001300	optical quality	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0001300	An EM radiation quality in which the EM radiation is within the fiat range of the spectrum visible deemed to be light.	
MONDO:0043009	genetic lethal multiple congenital anomalies/dysmorphic syndrome	biolink:Disease	mondo	Orphanet:471383	ordo_group_of_disorders	hereditary lethal multiple congenital anomalies/dysmorphic syndrome	http://purl.obolibrary.org/obo/MONDO_0043009	An instance of lethal multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome.	ORPHA:471383
HGNC:18374	HPSE2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18374		
GO:0006568	tryptophan metabolic process	biolink:OntologyClass	mondo			tryptophan metabolism	http://purl.obolibrary.org/obo/GO_0006568	The chemical reactions and pathways involving tryptophan, the chiral amino acid 2-amino-3-(1H-indol-3-yl)propanoic acid.	
GO:0006564	L-serine biosynthetic process	biolink:OntologyClass	mondo			L-serine anabolism|L-serine synthesis|L-serine formation|L-serine biosynthesis	http://purl.obolibrary.org/obo/GO_0006564	The chemical reactions and pathways resulting in the formation of L-serine, the L-enantiomer of serine, i.e. (2S)-2-amino-3-hydroxypropanoic acid.	
GO:0006563	L-serine metabolic process	biolink:OntologyClass	mondo			L-serine metabolism	http://purl.obolibrary.org/obo/GO_0006563	The chemical reactions and pathways involving L-serine, the L-enantiomer of serine, i.e. (2S)-2-amino-3-hydroxypropanoic acid.	
GO:0006560	proline metabolic process	biolink:OntologyClass	mondo			proline metabolism	http://purl.obolibrary.org/obo/GO_0006560	The chemical reactions and pathways involving proline (pyrrolidine-2-carboxylic acid), a chiral, cyclic, nonessential alpha-amino acid found in peptide linkage in proteins.	
GO:0018549	methanethiol oxidase activity	biolink:OntologyClass	mondo			methanethiol:oxygen oxidoreductase activity|(MM)-oxidase activity|methyl mercaptan oxidase activity|MT-oxidase activity|methylmercaptan oxidase activity	http://purl.obolibrary.org/obo/GO_0018549	Catalysis of the reaction: methanethiol + O2 + H2O = formaldehyde + hydrogen sulfide + hydrogen peroxide.	
MONDO:0018095	Weaver-Williams syndrome	biolink:Disease	mondo	ICD10:Q87.8|Orphanet:3448|UMLS:CN204431	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0018095	Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977.	UMLS:CN204431|ORPHA:3448
MONDO:0018094	Waardenburg syndrome	biolink:Disease	mondo	Orphanet:3440|OMIMPS:193500|NCIT:C85222|SCTID:715952000|MedDRA:10069203|GARD:0005525|ICD10:E70.3|DOID:9258	ordo_disease|clingen	Van der Hoeve Halbertsma Waardenburg Gualdi syndrome|Mende syndrome|Waardenburg Shah syndrome|Waardenburg, types I and/or II|van der Hoeve Halbertsona Waardenburg syndrome|Waardenburg's syndrome|Waardenburg syndrome	http://purl.obolibrary.org/obo/MONDO_0018094	Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.	ORPHA:3440|UMLS:C0043008|MESH:D014849|SNOMEDCT:715952000|MEDDRA:10069203|NCIT:C85222|DOID:9258
MONDO:0018097	West syndrome	biolink:Disease	mondo	Orphanet:3451|ICD10:G40.4|UMLS:C0037769|MedDRA:10021750|GARD:0007887|SCTID:28055006|COHD:376105|ICD9:345.60|ICD9:348.89|DOID:0050562|NCIT:C84788	ordo_clinical_syndrome	infantile spasms|X-linked infantile spasms|tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on EEG|X-linked infantile spasm syndrome|Infantile spasms syndrome|West's syndrome|intellectual disability-hypsarrhythmia syndrome	http://purl.obolibrary.org/obo/MONDO_0018097	West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.	NCIT:C84788|ORPHA:3451|DOID:0050562|SNOMEDCT:28055006|UMLS:C0037769|MEDDRA:10021750
MONDO:0018096	Weill-Marchesani syndrome	biolink:Disease	mondo	UMLS:C0265313|MedDRA:10064963|ICD9:759.89|GARD:0004936|SCTID:2884008|OMIMPS:277600|Orphanet:3449|ICD10:Q87.0|MESH:D056846|DOID:0050475|NCIT:C85226	ordo_malformation_syndrome	spherophakia-brachymorphia syndrome|mesodermal dysmorphodystrophy congenital|Marchesani-Weill syndrome|mesodermal Dysmorphodystrophy, congenital|congenital mesodermal dystrophy|GEMSS syndrome|spherophakia brachymorphia syndrome|WM syndrome|WMS	http://purl.obolibrary.org/obo/MONDO_0018096	Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.	ORPHA:3449|MESH:D056846|UMLS:C0265313|DOID:0050475|MEDDRA:10064963|SNOMEDCT:2884008|NCIT:C85226
MONDO:0018091	microcephaly-brachydactyly-kyphoscoliosis syndrome	biolink:Disease	mondo	UMLS:C2931177|Orphanet:3433|SCTID:719378009|GARD:0005490|MESH:C536349|ICD10:Q87.8	gard_rare|ordo_malformation_syndrome	microcephaly, short stature, brachydactyly type D, flattened occiput, low-set large ears, prominent nose, kyphoscoliosis and intellectual disability|microcephaly brachydactyly kyphoscoliosis|Viljoen Kallis Voges syndrome|Viljoen-Kallis-Voges syndrome	http://purl.obolibrary.org/obo/MONDO_0018091	Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait.	ORPHA:3433|SNOMEDCT:719378009|MESH:C536349|UMLS:C2931177
MONDO:0018090	double outlet left ventricle (disease)	biolink:Disease	mondo	SCTID:7368005|HP:0011581|ICD9:745.19|ICD10:Q20.2|Orphanet:3427|GARD:0001907	gard_rare|ordo_morphological_anomaly	DOLV|Double outlet left ventricle	http://purl.obolibrary.org/obo/MONDO_0018090	Double-outlet left ventricle (DOLV) is an extremely rare congenital cardiac malformation in which both the aorta and the pulmonary artery arise, either exclusively or predominantly, from the morphologic left ventricle.	SNOMEDCT:7368005|ORPHA:3427|UMLS:C0265809
MONDO:0018093	arbovirus fever	biolink:Disease	mondo	UMLS:CN227261|GARD:0000432|Orphanet:344	ordo_group_of_disorders|gard_rare	Arbovirosis|arbovirus fever	http://purl.obolibrary.org/obo/MONDO_0018093	Arbovirosis are polymorphic diseases caused by arboviruses and are classically characterized by encephalitis and hemorrhage, however, most commonly only aspecific fever is observed.	UMLS:CN227261|ORPHA:344
MONDO:0018092	Vogt-Koyanagi-Harada disease	biolink:Disease	mondo	UMLS:C0042170|NCIT:C85218|SCTID:193497004|ICD9:364.24|MESH:D014607|DOID:12297|ICD9:363.22|Orphanet:3437|ICD10:H20.8|COHD:4108968|ICD10:H30.8|ICD10:H20.82|ICD10:H30.81|GARD:0007862	gard_rare|ordo_disease	Harada's disease|Vogt-Koyanagi-Harada syndrome|Vogt-Koyanagi syndrome|VKH disease|uveomeningoencephalitic syndrome|VKH syndrome|Uveomenigitic syndrome	http://purl.obolibrary.org/obo/MONDO_0018092	Vogt-Koyanagi-Harada disease is a bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations.	ORPHA:3437|MESH:D014607|UMLS:C0042170|DOID:12297|SNOMEDCT:193497004|NCIT:C85218
GO:0006575	cellular modified amino acid metabolic process	biolink:OntologyClass	mondo			cellular amino acid derivative metabolism|cellular amino acid derivative metabolic process|modified amino acid metabolism|amino acid derivative metabolic process|modified amino acid metabolic process|cellular modified amino acid metabolism	http://purl.obolibrary.org/obo/GO_0006575	The chemical reactions and pathways involving compounds derived from amino acids, organic acids containing one or more amino substituents.	
GO:0006576	cellular biogenic amine metabolic process	biolink:OntologyClass	mondo			biogenic amine metabolism	http://purl.obolibrary.org/obo/GO_0006576	The chemical reactions and pathways occurring at the level of individual cells involving any of a group of naturally occurring, biologically active amines, such as norepinephrine, histamine, and serotonin, many of which act as neurotransmitters.	
GO:0006573	valine metabolic process	biolink:OntologyClass	mondo			valine metabolism	http://purl.obolibrary.org/obo/GO_0006573	The chemical reactions and pathways involving valine, 2-amino-3-methylbutanoic acid.	
GO:0006572	tyrosine catabolic process	biolink:OntologyClass	mondo			tyrosine degradation|tyrosine breakdown|tyrosine catabolism	http://purl.obolibrary.org/obo/GO_0006572	The chemical reactions and pathways resulting in the breakdown of tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid.	
GO:0006570	tyrosine metabolic process	biolink:OntologyClass	mondo			tyrosine metabolism	http://purl.obolibrary.org/obo/GO_0006570	The chemical reactions and pathways involving tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid.	
MONDO:0018099	obsolete Whipple disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018099		
MONDO:0018098	autosomal dominant limb-girdle muscular dystrophy type 1E (DES)	biolink:Disease	mondo	ICD10:G71.0|UMLS:C3148763|Orphanet:34517|GARD:0012529	ordo_disease	LGMD1E|limb-girdle muscular dystrophy type 1E	http://purl.obolibrary.org/obo/MONDO_0018098	Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult onset of progressive cardiac conduction defects that begin with cardiac dysrhythmia. Congestive heart failure and symptoms of progressive muscle weakness (present in a proximal distribution) tend to occur later. Affected patients may present only the cardiac features of the disease. Additional features include exertional dyspnea, calf hypertrophy, elevated creatine kinase serum levels and muscle cytoplasmic inclusions.	ORPHA:34517|UMLS:C3148763
NCBITaxon:43738	Schizophora	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_43738		
MONDO:0021650	uterine corpus neuroendocrine neoplasm	biolink:Disease	mondo	NCIT:C126771|UMLS:C4288048		body of uterus neuroendocrine tumor, well differentiated, low or intermediate grade|body of uterus neuroendocrine neoplasm|body of uterus neuroendocrine tumor|body of uterus neuroendocrine tumor|uterine corpus neuroendocrine tumor|body of uterus NET|uterine corpus neuroendocrine neoplasm|neuroendocrine neoplasm of body of uterus	http://purl.obolibrary.org/obo/MONDO_0021650	An epithelial neoplasm with neuroendocrine differentiation that arises from the uterine corpus. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma.	UMLS:C4288048|NCIT:C126771
MONDO:0021651	synpolydactyly	biolink:Disease	mondo	NCIT:C75003|MESH:C538153		synpolydactyly	http://purl.obolibrary.org/obo/MONDO_0021651	A joint presentation of syndactyly (fusion of digits) and polydactyly (production of supernumerary digits).	NCIT:C75003|MESH:C538153
MONDO:0033639	mitochondrial complex 4 deficiency, nuclear type 10	biolink:Disease	mondo	OMIM:619053		MC4DN10	http://purl.obolibrary.org/obo/MONDO_0033639		http://identifiers.org/omim/619053
MONDO:0021652	diffuse type adenocarcinoma	biolink:Disease	mondo	ICDO:8145/3|NCIT:C4127		diffuse type carcinoma|diffuse type adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0021652	An adenocarcinoma characterized by the presence of a diffuse cellular infiltrate which is composed of poorly cohesive cells with minimal or no glandular formations. Representative example is the gastric diffuse adenocarcinoma.	NCIT:C4127
MONDO:0006019	yaws	biolink:Disease	mondo	ICD9:102.7|DOID:10371|COHD:432829|UMLS:C0043388|ICD10:A66.9|ICD10:A66|GARD:0007913|EFO:0007548|ICD9:102|MESH:D015001|SCTID:70647001|ICD9:102.9|NCIT:C41353	gard_rare	polypapilloma tropicum|Treponema pallidum subsp. pertenue disease or disorder|Treponema pertenue infection|frambesia|Treponema pallidum subsp. pertenue infectious disease|frambosie|Treponema pallidum subsp. pertenue caused disease or disorder|frambesia tropica|Bouba|endemic treponematoses|thymosis	http://purl.obolibrary.org/obo/MONDO_0006019	An endemic, infectious, nonvenereal disease in humans that presents mainly in children younger than 15 years. The disease occurs primarily in warm, humid, tropical areas of Africa, Asia, South America, and Oceania, among poor rural populations where conditions of overcrowding and poor sanitation prevail. Infection with Treponema pertenue, a subspecies of Treponema pallidum, causes the disease.	DOID:10371|MESH:D015001|NCIT:C41353|SNOMEDCT:70647001|UMLS:C0043388
MONDO:0033638	mitochondrial complex 4 deficiency, nuclear type 8	biolink:Disease	mondo	OMIM:619052		MC4DN8	http://purl.obolibrary.org/obo/MONDO_0033638		http://identifiers.org/omim/619052
MONDO:0033637	mitochondrial complex 4 deficiency, nuclear type 7	biolink:Disease	mondo	OMIM:619051		MC4DN7	http://purl.obolibrary.org/obo/MONDO_0033637		http://identifiers.org/omim/619051
MONDO:0021653	cutaneous focal mucinosis	biolink:Disease	mondo	SCTID:110981005|ICD9:701.8|UMLS:C0406659		focal mucinoses|focal mucinosis	http://purl.obolibrary.org/obo/MONDO_0021653		UMLS:C0406659|SNOMEDCT:110981005
NCBITaxon:43735	Tabanomorpha	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_43735		
MONDO:0021654	diffuse cutaneous mucinosis	biolink:Disease	mondo	ICD9:701.8|UMLS:C0406655|SCTID:238945000			http://purl.obolibrary.org/obo/MONDO_0021654		UMLS:C0406655|SNOMEDCT:238945000
MONDO:0033636	mitochondrial complex 4 deficiency, nuclear type 4	biolink:Disease	mondo	OMIM:619048		MC4DN4	http://purl.obolibrary.org/obo/MONDO_0033636		http://identifiers.org/omim/619048
MONDO:0006017	obsolete western equine encephalitis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006017		
MONDO:0033635	mitochondrial complex 4 deficiency, nuclear type 3	biolink:Disease	mondo	OMIM:619046		MC4DN3	http://purl.obolibrary.org/obo/MONDO_0033635		http://identifiers.org/omim/619046
MONDO:0021655	secondary catabolic mucinosis of skin	biolink:Disease	mondo	ICD9:701.8|UMLS:C1274173|SCTID:402723003			http://purl.obolibrary.org/obo/MONDO_0021655		SNOMEDCT:402723003|UMLS:C1274173
MONDO:0008679	Wilms tumor type 1	biolink:Disease	mondo	OMIM:194070|UMLS:CN033288		WT1|Wilms tumor 1; WT1|Wilms tumor 1|renal Wilms tumor|nephroblastoma|Wilms' tumor|Wilms tumor type 1	http://purl.obolibrary.org/obo/MONDO_0008679		UMLS:CN033288|http://identifiers.org/omim/194070
MONDO:0006018	Wissler syndrome	biolink:Disease	mondo	UMLS:C0043195|DOID:3047|MESH:D014924|EFO:0007547		Wissler syndrome|Wissler-Fanconi syndrome (finding)|Wissler-Fanconi syndrome|Wissler's subsepsis allergica|Wissler's syndrome	http://purl.obolibrary.org/obo/MONDO_0006018	A rheumatic syndrome of possibly allergic origin, usually affecting children and adolescents, and characterized by high fever, exanthema, arthralgia, leukocytosis, and increased sedimentation rate.	UMLS:C0043195|MESH:D014924|DOID:3047
MONDO:0006015	Waterhouse-Friderichsen syndrome	biolink:Disease	mondo	UMLS:C0043068|MedDRA:10047847|NCIT:C85225|MESH:D014884|SCTID:36102002|ICD10:A39.1|ICD10:A39.1+|ICD10:E35.1*|GARD:0009449|Orphanet:100067|DOID:9931|ICD9:036.3|EFO:0007544	ordo_clinical_subtype	meningococcal hemorrhagic adrenalitis|fatal pneumococcal Waterhouse-Friderichsen syndrome|Waterhouse–Friderichsen syndrome|WFS	http://purl.obolibrary.org/obo/MONDO_0006015	A serious disorder characterized by massive adrenal gland hemorrhage secondary to a bacterial infection, most often Neisseria meningitidis infection. It is manifested with decreased blood pressure, shock, disseminated intravascular coagulation, and adrenocortical insufficiency.	NCIT:C85225|SNOMEDCT:36102002|ORPHA:100067|DOID:9931|UMLS:C0043068|MESH:D014884|MEDDRA:10047847
MONDO:0008678	Williams syndrome	biolink:Disease	mondo	UMLS:C0175702|ICD9:759.89|SCTID:63247009|NCIT:C85232|ICD10:Q87.8|OMIM:194050|MedDRA:10049644|GARD:0007891|MESH:D018980|Orphanet:904|DOID:1928	ordo_malformation_syndrome	deletion 7q11.23|chromosome 7Q11.23 deletion syndrome, 1.5- to 1.8-Mb|Williams-Beuren syndrome (WBS)|Fanconi Schlesinger syndrome|monosomy 7q11.23|WBS|Williams-Beuren syndrome|Williams-Beuren syndrome; WBS|WMS|Williams syndrome	http://purl.obolibrary.org/obo/MONDO_0008678	Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)	NCIT:C85232|MESH:D018980|DOID:1928|MEDDRA:10049644|SNOMEDCT:63247009|http://identifiers.org/omim/194050|UMLS:C0175702|ORPHA:904
MONDO:0008677	widow's peak (disease)	biolink:Disease	mondo	OMIM:194000|HP:0000349		widow'S peak|widow's peak	http://purl.obolibrary.org/obo/MONDO_0008677		http://identifiers.org/omim/194000
MONDO:0006016	obsolete West Nile encephalitis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006016		
MONDO:0008676	white sponge nevus 1	biolink:Disease	mondo	UMLS:C4011926|OMIM:193900		WHITE sponge NEVUS 1; WSN1|KRT4 hereditary mucosal leukokeratosis|hereditary mucosal leukokeratosis caused by mutation in KRT4|WSN1|leukokeratosis, hereditary mucosal|white sponge nevus 1|White sponge Nevus type 1|White sponge Nevus of Cannon	http://purl.obolibrary.org/obo/MONDO_0008676	Any hereditary mucosal leukokeratosis in which the cause of the disease is a mutation in the KRT4 gene.	http://identifiers.org/omim/193900|UMLS:C4011926
MONDO:0006013	visna disease	biolink:Disease	mondo	EFO:0007542|MESH:D016182|UMLS:C0080323		Visna/maedi virus disease or disorder|Visna/maedi virus infectious disease|Visna/maedi virus caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0006013	Demyelinating leukoencephalomyelitis of sheep caused by the visna-maedi virus. It is similar to but not the same as scrapie.	UMLS:C0080323|MESH:D016182
MONDO:0006014	vulvovaginal candidiasis	biolink:Disease	mondo	EFO:0007543|DOID:2272|ICD10:B37.3|ICD9:112.1|MESH:D002181|UMLS:C0700345|COHD:4217669|SCTID:72605008|NCIT:C2914		candidal vulvovaginitis|candidal: cervix|monilial vulvovaginitis|candidiasis of vulva and vagina|vulvovaginal candidiasis|vaginal candidiasis|candidal: [vulvovaginitis NOS] or [cervix]	http://purl.obolibrary.org/obo/MONDO_0006014	Infection of the vulva and vagina with a fungus of the genus CANDIDA. It is a disease associated with HIV infection.	MESH:D002181|UMLS:C0700345|SNOMEDCT:72605008|NCIT:C2914|DOID:2272
MONDO:0008675	freeman-Sheldon syndrome	biolink:Disease	mondo	UMLS:C0265224|ICD10CM:Q87.0|Orphanet:2053|GARD:0006466|OMIM:193700|MESH:C535483|DOID:0111604|SCTID:52616002|NCIT:C98931|ICD10:Q87.0	ordo_malformation_syndrome	Craniocarpotarsal dystrophy|whistling-face syndrome|distal arthrogryposis type 2A|freeman-Sheldon syndrome|cranio-carpo-tarsal syndrome|whistling face syndrome|arthrogryposis, distal, type 2A; DA2A|craniocarpotarsal dystrophy|windmill-vane-hand syndrome|arthrogryposis distal type 2A|DA2A|Craniocarpotarsal dysplasia|freeman Sheldon syndrome|arthrogryposis, distal, type 2A|whistling face-windmill vane hand syndrome|whistling face-windmill vane hand syndrome|FSS|craniocarpotarsal dysplasia	http://purl.obolibrary.org/obo/MONDO_0008675	Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.	SNOMEDCT:52616002|NCIT:C98931|ORPHA:2053|UMLS:C0265224|DOID:0111604|MESH:C535483|http://identifiers.org/omim/193700
NCBITaxon:43733	Muscomorpha	organism taxon	mondo	GC_ID:1		Asilomorpha	http://purl.obolibrary.org/obo/NCBITaxon_43733		
MONDO:0008674	WHIM syndrome	biolink:Disease	mondo	DOID:0060591|Orphanet:51636|SCTID:234571003|OMIM:193670|GARD:0009297|UMLS:C0472817|ICD10:D81.8|MESH:C536697	ordo_disease|gard_rare	WILM|WHIMS|Warts-infections-leukopenia-myelokatexis syndrome|Warts, hypogammaglobulinemia, infections, and myelokathexis|Warts-hypogammaglobulinemia-infections-myelokathexis syndrome|Warts, hypogammaglobulinemia, infections, and myelokathexis syndrome|WHIM syndrome; WHIMS|WHIM syndrome	http://purl.obolibrary.org/obo/MONDO_0008674	WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).	UMLS:C0472817|ORPHA:51636|SNOMEDCT:234571003|MESH:C536697|http://identifiers.org/omim/193670|DOID:0060591
MONDO:0006011	viral hepatitis	biolink:Disease	mondo	ICD9:573.1|EFO:0004196|COHD:4291005|SCTID:3738000|UMLS:C0019194|NCIT:C35124|UMLS:C0042721|MESH:D006525|MESH:D006524|DOID:1884|ICD10:B15.B19		viral human hepatitis|Viruses hepatitis|viral hepatitis with hepatic coma|viral Hepatitis|Hepatitis viral|unspecified viral hepatitis with hepatic coma|human viral hepatitis|Viruses caused hepatitis	http://purl.obolibrary.org/obo/MONDO_0006011	An acute or chronic inflammation of the liver parenchyma caused by viruses. Representative examples include hepatitis A, B, and C, cytomegalovirus hepatitis, and herpes simplex hepatitis.	DOID:1884|NCIT:C35124|SNOMEDCT:3738000|UMLS:C0042721|MESH:D006525
MONDO:0006012	viral pneumonia	biolink:Disease	mondo	EFO:0007541|UMLS:C0032310|ICD9:480.8|MESH:D011024|COHD:261326|ICD10:J12.9|ICD9:480|ICD9:480.9|DOID:10533|SCTID:75570004		Viruses caused pneumonia|Viruses pneumonia	http://purl.obolibrary.org/obo/MONDO_0006012	Inflammation of the lung parenchyma that is caused by a viral infection.	SNOMEDCT:75570004|DOID:10533|UMLS:C0032310|MESH:D011024
MONDO:0008673	acrofacial dysostosis, Weyers type	biolink:Disease	mondo	SCTID:277807007|DOID:0111571|MESH:C536695|Orphanet:952|ICD9:520.8|OMIM:193530|ICD10:Q75.4|GARD:0000497|UMLS:C0457013	ordo_malformation_syndrome	Weyers acrodental dysostosis|curry Hall syndrome|Weyers acrofacial dysostosis|Weyers acrofacial dysostosis; wad|wad|acrofacial dysostosis of Weyers|acrodental dysostosis of Weyers|curry-Hall syndrome	http://purl.obolibrary.org/obo/MONDO_0008673	Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.	SNOMEDCT:277807007|DOID:0111571|MESH:C536695|UMLS:C0457013|ORPHA:952|http://identifiers.org/omim/193530
MONDO:0008672	Watson syndrome	biolink:Disease	mondo	GARD:0005540|UMLS:CN204429|SCTID:403820003|Orphanet:3444|ICD9:709.8|OMIM:193520	gard_rare	Watson syndrome|Watson syndrome; WTSN|cafe-Au-lait Spots with pulmonic stenosis|pulmonic stenosis with cafe-Au-lait Spots|WTSN	http://purl.obolibrary.org/obo/MONDO_0008672	Watson syndrome is believed to be a variant of neurofibromatosis type 1. The symptoms of this condition are pulmonary valvular stenosis, cafe-au-lait spots and short stature. IQTest scores for individuals with Watson syndromecan rangebetween 60-100.Many people with this condition also have a larger than average head size (macrocephaly) and Lisch nodules. While mutations in the NF1 gene have been found in families with Watson syndrome, the exactcause of this condition is unknown. The conditionis inherited in an autosomal dominant pattern. Treatment aims at managing the specific symptoms of an individual.	UMLS:CN204429|ORPHA:3444|SNOMEDCT:403820003|http://identifiers.org/omim/193520
MONDO:0008671	Waardenburg syndrome type 2A	biolink:Disease	mondo	NCIT:C75011|GARD:0005521|OMIM:193510|MESH:C536464|DOID:0110950	gard_rare	Waardenburg syndrome, type 2A; WS2A|Waardenburg syndrome type IIA|Ws2|Waardenburg syndrome type 2 caused by mutation in MITF|Waardenburg syndrome, type 2A|MITF Waardenburg syndrome type 2|Waardenburg syndrome without dystopia canthorum|WS2A	http://purl.obolibrary.org/obo/MONDO_0008671	Waardenburg syndrome Type 2 caused by mutations in the MITF gene.	NCIT:C75011|MESH:C536464|http://identifiers.org/omim/193510|DOID:0110950
MONDO:0006010	salmonid viral hemorrhagic septicemia	biolink:Disease	mondo	EFO:0007539|MESH:D031941|UMLS:C1135869			http://purl.obolibrary.org/obo/MONDO_0006010	A systemic infection of various salmonid and a few nonsalmonid fishes caused by Viral hemorrhagic septicemia virus (see novirhabdovirus),	UMLS:C1135869|MESH:D031941
MONDO:0008670	Waardenburg syndrome type 1	biolink:Disease	mondo	ICD10:E70.3|OMIM:193500|Orphanet:894|GARD:0005519|DOID:0110948|UMLS:C1847800|NCIT:C75008	ordo_clinical_subtype|gard_rare	WS1|Waardenburg syndrome, type 1; WS1|Waardenburg's syndrome type 1|Waardenburg syndrome type I|Waardenburg syndrome, type 1|Waardenburg syndrome with dystopia canthorum	http://purl.obolibrary.org/obo/MONDO_0008670	Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.	UMLS:C1847800|NCIT:C75008|ORPHA:894|http://identifiers.org/omim/193500|DOID:0110948
UBERON:0030276	lumbar spinal cord ventral horn	biolink:AnatomicalEntity	mondo			lumbar spinal cord ventral horn|lumbar spinal cord anterior horn	http://purl.obolibrary.org/obo/UBERON_0030276		
MONDO:0018008	idiopathic giant cell myocarditis	biolink:Disease	mondo	Orphanet:329874|ICD10:I40.8	ordo_disease	IGCM	http://purl.obolibrary.org/obo/MONDO_0018008		ORPHA:329874
MONDO:0018007	mosaic genome-wide paternal uniparental disomy	biolink:Disease	mondo	UMLS:CN230278|Orphanet:329813	ordo_malformation_syndrome	genome-wide paternal uniparental disomy mosaicism|Mosaic genome-wide paternal UPD|androgenetic/biparental mosaicism	http://purl.obolibrary.org/obo/MONDO_0018007		UMLS:CN230278|ORPHA:329813
MONDO:0018009	non-hypoproteinemic hypertrophic gastropathy	biolink:Disease	mondo	Orphanet:329883|ICD10:K29.6	ordo_disease	hypertrophic gastropathy without hypoproteinemia	http://purl.obolibrary.org/obo/MONDO_0018009	Non-hypoproteinemic hypertrophic gastropathy is a rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of peripheral edema.	ORPHA:329883
MONDO:0018004	acute megakaryoblastic leukemia without down syndrome	biolink:Disease	mondo	Orphanet:329469|UMLS:CN204216|ICD10:C94.2	ordo_clinical_subtype	non-DS-AMKL	http://purl.obolibrary.org/obo/MONDO_0018004		UMLS:CN204216|ORPHA:329469
MONDO:0033645	mitochondrial complex 4 deficiency, nuclear type 11	biolink:Disease	mondo	OMIM:619054		MC4DN11	http://purl.obolibrary.org/obo/MONDO_0033645		http://identifiers.org/omim/619054
MONDO:0021645	esophageal varices with bleeding	biolink:Disease	mondo	ICD10:I85.01|ICD10:I85.0|SCTID:17709002|ICD9:456.0			http://purl.obolibrary.org/obo/MONDO_0021645		SNOMEDCT:17709002
MONDO:0018003	limbic encephalitis with DPP6 antibodies	biolink:Disease	mondo	ICD10:G13.1|Orphanet:329341	ordo_disease	limbic encephalitis with DPPX antibodies|limbic encephalitis with dipeptidyl-peptidase 6 antibodies	http://purl.obolibrary.org/obo/MONDO_0018003		ORPHA:329341
MONDO:0033644	microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1	biolink:Disease	mondo	OMIM:619082		MRCS1	http://purl.obolibrary.org/obo/MONDO_0033644		http://identifiers.org/omim/619082
MONDO:0018006	adult-onset distal myopathy due to VCP mutation	biolink:Disease	mondo	ICD10:G71.0|Orphanet:329478|UMLS:CN204218	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018006	Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.	UMLS:CN204218|ORPHA:329478
MONDO:0033643	inflammatory bowel disease 30	biolink:Disease	mondo	OMIM:619079		IBD30	http://purl.obolibrary.org/obo/MONDO_0033643		http://identifiers.org/omim/619079
MONDO:0033642	neurodevelopmental disorder with alopecia and brain abnormalities	biolink:Disease	mondo	OMIM:619075		NEDABA	http://purl.obolibrary.org/obo/MONDO_0033642		http://identifiers.org/omim/619075
MONDO:0018005	spastic paraplegia-Paget disease of bone syndrome	biolink:Disease	mondo	ICD10:G11.4|Orphanet:329475|UMLS:CN204217	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018005	Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported.	UMLS:CN204217|ORPHA:329475
HGNC:18358	IL17RC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18358		
MONDO:0018000	hereditary thrombocytosis with transverse limb defect	biolink:Disease	mondo	ICD10:Q87.2|UMLS:CN204208|Orphanet:329319	ordo_disease	familial thrombocytosis with transverse limb defect|thrombocythemia with distal limb defects	http://purl.obolibrary.org/obo/MONDO_0018000	Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly.	UMLS:CN204208|ORPHA:329319
MONDO:0033641	cleft palate, proliferative retinopathy, and developmental delay	biolink:Disease	mondo	OMIM:619074		CPPRDD	http://purl.obolibrary.org/obo/MONDO_0033641		http://identifiers.org/omim/619074
MONDO:0033640	vitamin D-dependent rickets, type 3	biolink:Disease	mondo	OMIM:619073		VDDR3	http://purl.obolibrary.org/obo/MONDO_0033640		http://identifiers.org/omim/619073
MONDO:0018002	adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	biolink:Disease	mondo	Orphanet:329336|SCTID:725464001|UMLS:C4511138|ICD10:G71.3	ordo_disease	adult-onset CPEO with mitochondrial myopathy	http://purl.obolibrary.org/obo/MONDO_0018002	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.	SNOMEDCT:725464001|ORPHA:329336|UMLS:C4511138
MONDO:0018001	inverse Klippel-Trenaunay syndrome	biolink:Disease	mondo	ICD10:Q87.2|Orphanet:329324|UMLS:CN204209	ordo_disease	inverse Klippel-Trénaunay syndrome|cutaneous hemangioma with muscle or bone atrophy	http://purl.obolibrary.org/obo/MONDO_0018001		UMLS:CN204209|ORPHA:329324
NCBITaxon:1056966	Aedini	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1056966		
HGNC:18362	IMPG2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18362		
PATO-PROPERTY:reciprocal_of	reciprocal_of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/pato#reciprocal_of	q1 reciprocal_of q2 if and only if : q1 and q2 are relational qualities and a phenotype e q1 e2 mutually implies a phenotype e2 q2 e.	
MONDO:0021640	grade III glioma	biolink:Disease	mondo	UMLS:C4287997|NCIT:C127816		WHO grade III glioma|anaplastic glioma	http://purl.obolibrary.org/obo/MONDO_0021640	A group of malignant gliomas that includes anaplastic astrocytoma, anaplastic oligodendroglioma, anaplastic oligoastrocytoma, and anaplastic ependymoma.	UMLS:C4287997|NCIT:C127816
MONDO:0021641	Bunyaviridae infectious disease	biolink:Disease	mondo	SCTID:105632002|MESH:D002044|EFO:0007188		Bunyaviridae disease or disorder|Bunyaviridae infectious disease|disease due to Bunyaviridae|Bunyavirus infections|disease caused by Bunyaviridae|disease caused by Bunyavirus|disease due to Bunyavirus|Bunyaviridae caused disease or disorder|infections, Bunyaviridae|infections, Bunyavirus|Bunyaviridae infection|Bunyavirus infection	http://purl.obolibrary.org/obo/MONDO_0021641	Virus diseases caused by the bunyaviridae.	SNOMEDCT:105632002|MESH:D002044
MONDO:0033649	mitochondrial complex 4 deficiency, nuclear type 14	biolink:Disease	mondo	OMIM:619058		MC4DN14	http://purl.obolibrary.org/obo/MONDO_0033649		http://identifiers.org/omim/619058
MONDO:0021642	vulval varices	biolink:Disease	mondo	ICD10:I86.3|ICD9:456.6|HP:0100677|SCTID:48868008|UMLS:C0155796		mammalian vulva varicose disease|varicose disease of mammalian vulva	http://purl.obolibrary.org/obo/MONDO_0021642	A varicose disease that involves the mammalian vulva.	UMLS:C0155796|SNOMEDCT:48868008
MONDO:0006028	cecum adenocarcinoma	biolink:Disease	mondo	NCIT:C5543|UMLS:C1332866|DOID:3039|SCTID:413446001|EFO:1000020		cecal adenocarcinoma|adenocarcinoma of the cecum|adenocarcinoma of cecum|cecum adenocarcinoma|caecum adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006028	A carcinoma that arises from glandular epithelial cells of the caecum	SNOMEDCT:413446001|NCIT:C5543|DOID:3039|UMLS:C1332866
MONDO:0021643	mesenteric varices	biolink:Disease	mondo	HP:0002626|SCTID:22949006		mesentery varicose disease|varicose disease of mesentery	http://purl.obolibrary.org/obo/MONDO_0021643	A varicose disease that involves the mesentery.	SNOMEDCT:22949006
PO:0030109	hesperidium fruit	biolink:OntologyClass	mondo	PO_GIT:652		indehiscent fruit  (broad)|hesperide (exact, German)|citrus fruit (exact)|hesperidio (exact, Spanish)|panzerbeere (broad, German)|hesperidium (exact)	http://purl.obolibrary.org/obo/PO_0030109	A berry fruit (PO:0030108) which develops from a superior gynoecium (PO:0009062) and at maturity comprises a thickened exocarp (PO:0009085), thickened mesocarp (PO:0009087), and endocarp (PO:0009086), and has as parts juice sacs (PO:0006013) on a carpel adaxial epidermis (PO:0025618).	
MONDO:0006029	cecum carcinoma	biolink:Disease	mondo	UMLS:C0149640|NCIT:C3491|SCTID:255081007|EFO:1000021|DOID:1519		carcinoma of cecum|carcinoma of caecum|cecum carcinoma|cecum cancer|carcinoma of the cecum|caecum carcinoma|cecal cancer	http://purl.obolibrary.org/obo/MONDO_0006029	A carcinoma that arises from epithelial cells of the caecum	DOID:1519|UMLS:C0149640|NCIT:C3491|SNOMEDCT:255081007
MONDO:0033646	mitochondrial complex 4 deficiency, nuclear type 12	biolink:Disease	mondo	OMIM:619055		MC4DN12	http://purl.obolibrary.org/obo/MONDO_0033646		http://identifiers.org/omim/619055
PO:0030108	berry fruit	biolink:OntologyClass	mondo	PO_GIT:652		beere (exact, German)|indehiscent fruit  (broad)|baya (exact, Spanish)|berry (exact)|pyrine (narrow)|bacca (exact)	http://purl.obolibrary.org/obo/PO_0030108	A fruit (PO:0009001) which at maturity comprises a fleshy endocarp (PO:0009086), fleshy mesocarp (PO:0009087), and fleshy exocarp (PO:0009085).	
MONDO:0021644	esophageal varices without bleeding	biolink:Disease	mondo	ICD10:I85.00|ICD9:456.1|ICD10:I85.9|SCTID:14223005|UMLS:C0267092		esophageal varices without bleeding	http://purl.obolibrary.org/obo/MONDO_0021644		UMLS:C0267092|SNOMEDCT:14223005
MONDO:0008689	dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	biolink:Disease	mondo	GARD:0010676|OMIM:194380	gard_rare	DEHYDRATED hereditary stomatocytosis 1 with or without pseudohyperkalemia and/OR perinatal edema; DHS1|DHS|DEHYDRATED hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; DHS|Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema|xerocytosis, hereditary|pseudohyperkalemia, familial, 1, due to Red cell leak|Desiccytosis, hereditary|Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/Or perinatal edema|dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema|dehydrated hereditary stomatocytosis|DHS1|pseudohyperkalemia Edinburgh	http://purl.obolibrary.org/obo/MONDO_0008689		http://identifiers.org/omim/194380
MONDO:0006026	urinary bladder disease	biolink:Disease	mondo	ICD9:596.9|EFO:1000018|MESH:D001745|UMLS:C0005686|DOID:365|COHD:201337|NCIT:C2900|SCTID:42643001|ICD9:596.8|ICD10:N32.9		disorder of urinary bladder|urinary bladder disorder|disease or disorder of urinary bladder|disease of urinary bladder|urinary bladder disease or disorder|bladder disease|urinary bladder disease|disorder of urinary bladder|bladder disorder	http://purl.obolibrary.org/obo/MONDO_0006026	A disease involving the urinary bladder.	UMLS:C0005686|SNOMEDCT:42643001|NCIT:C2900|MESH:D001745|DOID:365
MONDO:0008688	WT limb-blood syndrome	biolink:Disease	mondo	OMIM:194350|SCTID:719019000|Orphanet:3466|ICD10:D61.0|GARD:0000039|MESH:C536751|UMLS:C1327917	ordo_disease|gard_rare	WT limb-blood syndrome|WT limb blood syndrome|radial-ulnar hypoplasia with bone marrow failure and/or leukemia|WTsyndrome	http://purl.obolibrary.org/obo/MONDO_0008688	WT limb-blood syndrome is characterised by haematological anomalies (Fanconi anaemia, leukaemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly, and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant.	ORPHA:3466|SNOMEDCT:719019000|http://identifiers.org/omim/194350|MESH:C536751|UMLS:C1327917
MONDO:0006027	breast synovial sarcoma	biolink:Disease	mondo	EFO:1000019		breast synovial sarcoma (disease)	http://purl.obolibrary.org/obo/MONDO_0006027	A synovial sarcoma (disease) that involves the breast.	
MONDO:0008687	Woronets trait	biolink:Disease	mondo	OMIM:194320		Woronets trait	http://purl.obolibrary.org/obo/MONDO_0008687		http://identifiers.org/omim/194320
MONDO:0006024		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006024		
MONDO:0008686	isolated familial woolly hair disorder	biolink:Disease	mondo	ICD10:Q84.1|DOID:0111572|MESH:C536745|MedDRA:10048017|Orphanet:170|UMLS:CN200245|SCTID:52564001|GARD:0005597|HP:0002224	ordo_disease	hereditary wooly hair syndrome|hereditary woolly hair syndrome|hereditary woolly hair (autosomal dominant)|woolly hair, autosomal dominant|woolly hair, autosomal dominant; ADWH|woolly hair syndrome|familial wooly hair syndrome|familial woolly hair (autosomal recessive)|familial woolly hair syndrome|wooly hair|woolly hair	http://purl.obolibrary.org/obo/MONDO_0008686	Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair.	UMLS:C0345427|MEDDRA:10048017|SNOMEDCT:52564001|UMLS:C0343073|UMLS:CN200245|ORPHA:170|DOID:0111572|MESH:C536745
MONDO:0006025	autosomal recessive disease	biolink:Disease	mondo	DOID:0050737|EFO:1000017|UMLS:C0265388|ICD9:758.5|SCTID:85995004		disease, autosomal recessive|recessive hereditary disorder (autosomal)|autosomal recessive disease or disorder|autosomal recessive hereditary disorder|autosomal recessive inherited disorder|autosomal recessive inherited disease|autosomal recessive hereditary disease|disease or disorder, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0006025	Autosomal recessive form of disease.	UMLS:C0265388|DOID:0050737|SNOMEDCT:85995004
MONDO:0008685	Wolff-Parkinson-white syndrome (disease)	biolink:Disease	mondo	ICD10:I45.6|DOID:384|HP:0001716|OMIM:194200|ICD9:426.7|SCTID:17869006|EFO:1001450|COHD:313224|NCIT:C35132		Wolff-Parkinson-White pattern (finding)|Wolff-Parkinson-White syndrome|preexcitation syndrome|Wpw syndrome|anomalous A-V excitation|accessory atrioventricular pathways|anomalous atrioventricular excitation|WPW|Wolff-Parkinson-White pattern|WOLFF-Parkinson-WHITE syndrome	http://purl.obolibrary.org/obo/MONDO_0008685	A cardiac conduction disorder characterized by an electrocardiographic finding of ventricular pre-excitation, which is a short PR interval and a long QRS interval with a delta wave. Most individuals are asymptomatic; however they can experience periods of palpitations, shortness of breath or syncope during tachycardic episodes.	SNOMEDCT:17869006|NCIT:C35132|DOID:384|http://identifiers.org/omim/194200
MONDO:0006022	acidosis disorder	biolink:Disease	mondo	ICD9:276.2|EFO:1000014|COHD:435517|SCTID:51387008|HP:0001941		acidosis	http://purl.obolibrary.org/obo/MONDO_0006022	An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic.	NCIT:C83504|SNOMEDCT:51387008
MONDO:0008684	Wolf-Hirschhorn syndrome	biolink:Disease	mondo	MedDRA:10050361|UMLS:C0796117|UMLS:C0796202|UMLS:C1956097|ICD10:Q93.3|OMIM:194190|Orphanet:280|UMLS:CN207113|GARD:0007896|NCIT:C35528|MESH:D054877|SCTID:718226002|DOID:0050460	gard_rare|ordo_malformation_syndrome	WHS|chromosome 4p16.3 deletion syndrome|Wolf-Hirschhorn syndrome|4p syndrome|4p deletion syndrome|Wittwer syndrome|distal monosomy 4p|Wolf syndrome|Pitt syndrome|Pitt-Rogers-Danks syndrome|4p- syndrome|chromosome 4p syndrome|chromosome 4P16.3 deletion syndrome|WOLF-Hirschhorn syndrome; WHS|distal deletion 4p|telomeric deletion 4p|microcephaly, IUGR, hypertelorism, ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation	http://purl.obolibrary.org/obo/MONDO_0008684	Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.	UMLS:C0796117|UMLS:C0796202|NCIT:C35528|ORPHA:280|DOID:0050460|http://identifiers.org/omim/194190|UMLS:CN207113|MEDDRA:10050361|MESH:C536740|MESH:D054877|SNOMEDCT:718226002|UMLS:C1956097
MONDO:0006023		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006023		
MONDO:0008683	Wilms tumor 3	biolink:Disease	mondo	OMIM:194090|MESH:C565991|UMLS:C1860265		Wilms tumor 3|WT3|Wilms tumor 3; WT3	http://purl.obolibrary.org/obo/MONDO_0008683		UMLS:C1860265|http://identifiers.org/omim/194090|MESH:C565991
MONDO:0006020	obsolete Zollinger-Ellison syndrome (disease)	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006020		
MONDO:0006021	Prinzmetal angina	biolink:Disease	mondo	GARD:0007465|UMLS:C2931193|UMLS:C0002963|DOID:0111151|EFO:1000013|MESH:D000788|ICD9:413.1|SCTID:87343002|Wikipedia:Prinzmetal's_angina		angina inversa|Prinzmetal's variant angina|variant angina|variant angina pectoris|Prinzmetal's angina	http://purl.obolibrary.org/obo/MONDO_0006021	A syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries). For a portion of patients Prinzmetal's angina may be a manifestation of vasospastic disorder and is associated with migraine, Raynaud's phenomenon or aspirin-induced asthma.	SNOMEDCT:87343002|NCIT:C66915|UMLS:C0002963|DOID:0111151|MESH:D000788|UMLS:C2931193
MONDO:0008682	Denys-Drash syndrome	biolink:Disease	mondo	GARD:0005576|OMIM:194080|ICD9:189.0|SCTID:236385009|Orphanet:220|UMLS:C0950121|NCIT:C84668|DOID:3764|ICD10:N04.1|UMLS:C3151568|MESH:D030321|MedDRA:10070179	ordo_disease	pseudohermaphroditism, nephron disorder and Wilms' tumor|nephropathy associated with male pseudohermaphroditism and Wilms' tumor|Denys Drash syndrome|nephropathy, Wilms tumor, and genital anomalies|Wilms tumor and pseudohermaphroditism|nephrotic syndrome type 4|Wilms tumor and pseudo- or true hermaphroditism|Drash syndrome|Denys-Drash syndrome; DDS|DDS|Denys-Drash syndrome	http://purl.obolibrary.org/obo/MONDO_0008682	Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma.	MEDDRA:10070179|MESH:D030321|ORPHA:220|UMLS:C0950121|SNOMEDCT:236385009|http://identifiers.org/omim/194080|UMLS:C3151568|DOID:3764|NCIT:C84668
MONDO:0008681	WAGR syndrome	biolink:Disease	mondo	UMLS:C0206115|MESH:D017624|OMIM:194072|ICD10:Q87.8|GARD:0005528|Orphanet:893|GARD:0001732|NCIT:C3718|UMLS:C2931803|DOID:14515|SCTID:715215007	ordo_malformation_syndrome|gard_rare	Del(11)(p13)|Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability syndrome; WAGR|11p partial monosomy syndrome|Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability syndrome|11p deletion|WAGR syndrome|deletion 11p|deletion 11p13|chromosome 11P13 deletion syndrome|Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome|Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome|Wilms tumor, aniridia, genitourinary anomalies, intellectual disability syndrome|Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome|11p monosomy|monosomy 11p|Wilms tumor-aniridia-gonadoblastoma-mental retardation syndrome|monosomy 11p13|Wilms tumor-aniridia-gonadoblastoma-intellectual disability syndrome|partial monosomy 11p|chromosome 11p deletion syndrome|Wilms tumor, aniridia, genitourinary anomalies, mental retardation syndrome|Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome; WAGR|AGR triad|WAGR|chromosome 11p13 deletion syndrome|Wilms tumor, aniridia, genitourinary anomalies and developmental delay syndrome|chromosome 11p deletion|WAGR Complex|11p deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0008681	WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.	NCIT:C3718|MESH:C538295|SNOMEDCT:715215007|UMLS:C0206115|http://identifiers.org/omim/194072|DOID:14515|ORPHA:893|UMLS:C2931803|MESH:D017624
MONDO:0008680	Wilms tumor 2	biolink:Disease	mondo	OMIM:194071|MESH:C536853|GARD:0008559	gard_rare	Wilms tumor 2|Wilms tumor type 2|familial Wilms tumor 2|FWT2|WT2|Wilms tumor 2; WT2	http://purl.obolibrary.org/obo/MONDO_0008680		http://identifiers.org/omim/194071|MESH:C536853
GO:0043504	mitochondrial DNA repair	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0043504	The process of restoring mitochondrial DNA after damage.	
HGNC:1190	NPAP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1190		
MONDO:0033656	mitochondrial complex 4 deficiency, nuclear type 21	biolink:Disease	mondo	OMIM:619065		MC4DN21	http://purl.obolibrary.org/obo/MONDO_0033656		http://identifiers.org/omim/619065
MONDO:0021634	epithelial skin neoplasm	biolink:Disease	mondo	UMLS:C0345976|NCIT:C7342		epithelial skin neoplasm|zone of skin epithelial neoplasm|epithelial skin tumor|skin epithelium neoplasm|skin epithelium tumor	http://purl.obolibrary.org/obo/MONDO_0021634	A epithelial neoplasm that involves the zone of skin.	UMLS:C0345976|NCIT:C7342
MONDO:0021635	neurocristopathy	biolink:Disease	mondo			disorder of neural crest cell development|neural crest cell development disease|disorder of neural crest cell development|disorder of neural crest development	http://purl.obolibrary.org/obo/MONDO_0021635	That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage.	
MONDO:0033655	mitochondrial complex 4 deficiency, nuclear type 20	biolink:Disease	mondo	OMIM:619064		MC4DN20	http://purl.obolibrary.org/obo/MONDO_0033655		http://identifiers.org/omim/619064
MONDO:0033654	mitochondrial complex 4 deficiency, nuclear type 19	biolink:Disease	mondo	OMIM:619063		MC4DN19	http://purl.obolibrary.org/obo/MONDO_0033654		http://identifiers.org/omim/619063
MONDO:0021636	astrocytic tumor	biolink:Disease	mondo	Orphanet:94|DOID:3069|MedDRA:10003571|NCIT:C6958|EFO:0000272	ordo_group_of_disorders	astrocytoma of cerebrum|cerebral astrocytoma|astrocytoma of brain|astrocytoma|astrocytic neoplasm|Astroglioma|astroglioma|astrocytoma, no ICD-O subtype|astrocytic tumor	http://purl.obolibrary.org/obo/MONDO_0021636	A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma.	DOID:3069|MEDDRA:10003571|NCIT:C6958|ORPHA:94
HGNC:18368	PADI4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18368		
MONDO:0033653	mitochondrial complex 4 deficiency, nuclear type 18	biolink:Disease	mondo	OMIM:619062		MC4DN18	http://purl.obolibrary.org/obo/MONDO_0033653		http://identifiers.org/omim/619062
MONDO:0021637	low grade glioma	biolink:Disease	mondo	NCIT:C132067|UMLS:C1997217		low-grade glioma|low grade glioma	http://purl.obolibrary.org/obo/MONDO_0021637	A grade I or grade II glioma arising from the central nervous system. This category includes pilocytic astrocytoma, diffuse astrocytoma, subependymal giant cell astrocytoma, ependymoma, oligodendroglioma, oligoastrocytoma, and angiocentric glioma.	NCIT:C132067|UMLS:C1997217
HP:0025085	Bloody diarrhea	biolink:PhenotypicFeature	mondo			Bloody bowel movement|Bloody stool|Bloody diarrhoea|Blood in stool|Bloody diarrhea	http://purl.obolibrary.org/obo/HP_0025085	Passage of many stools containing blood.	
MONDO:0021638	low grade astrocytic tumor	biolink:Disease	mondo	UMLS:C3898569|NCIT:C116342		low-grade astrocytic tumor|low grade astrocytic neoplasm|low grade astrocytic tumor|low-grade astrocytic neoplasm	http://purl.obolibrary.org/obo/MONDO_0021638	A grade I or grade II astrocytic tumor. This category includes pilocytic astrocytoma (grade I), subependymal giant cell astrocytoma (grade I), and diffuse astrocytoma (grade II).	NCIT:C116342|UMLS:C3898569
MONDO:0033652	mitochondrial complex 4 deficiency, nuclear type 17	biolink:Disease	mondo	OMIM:619061		MC4DN17	http://purl.obolibrary.org/obo/MONDO_0033652		http://identifiers.org/omim/619061
MONDO:0033651	mitochondrial complex 4 deficiency, nuclear type 16	biolink:Disease	mondo	OMIM:619060		MC4DN16	http://purl.obolibrary.org/obo/MONDO_0033651		http://identifiers.org/omim/619060
MONDO:0021639	grade II glioma	biolink:Disease	mondo	UMLS:C4330050|NCIT:C132505		grade II glioma|WHO grade II glioma	http://purl.obolibrary.org/obo/MONDO_0021639	A glioma arising from the central nervous system. This category includes diffuse astrocytoma, ependymoma, oligodendroglioma, and oligoastrocytoma.	NCIT:C132505|UMLS:C4330050
MONDO:0033650	mitochondrial complex 4 deficiency, nuclear type 15	biolink:Disease	mondo	OMIM:619059		MC4DN15	http://purl.obolibrary.org/obo/MONDO_0033650		http://identifiers.org/omim/619059
HGNC:18365	IFNL3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18365		
MONDO:0021630	lipoma of face	biolink:Disease	mondo	SCTID:93159009|ICD9:214.0		face lipoma	http://purl.obolibrary.org/obo/MONDO_0021630	A lipoma that involves the face.	SNOMEDCT:93159009
MONDO:0008659	transcobalamin I deficiency	biolink:Disease	mondo	UMLS:C0342700|GARD:0005239|ICD10:E53.8|MESH:C562798|SCTID:237933007|OMIM:193090|Orphanet:2967	ordo_disease|gard_rare	transcobalamin 1 deficiency with lactoferrin deficiency|Haptocorrin deficiency|cobalamin Pseudodeficiency due to transcobalamin deficiency|cobalamin R Binder Protein deficiency|TCI deficiency|transcobalamin 1 deficiency|transcobalamin I deficiency|transcobalamin-1 deficiency|Tcn1 deficiency|R Binder deficiency with lactoferrin deficiency	http://purl.obolibrary.org/obo/MONDO_0008659		SNOMEDCT:237933007|http://identifiers.org/omim/193090|UMLS:C0342700|MESH:C562798|ORPHA:2967
MONDO:0021631	brain astrocytoma	biolink:Disease	mondo	NCIT:C60780|SCTID:254938000|UMLS:C3695127		brain astrocytoma|astrocytoma (excluding glioblastoma) of brain|brain astrocytoma (excluding glioblastoma)	http://purl.obolibrary.org/obo/MONDO_0021631	A astrocytoma (excluding glioblastoma) that involves the brain.	SNOMEDCT:254938000|NCIT:C60780|UMLS:C3695127
FOODON:03414466	tunicate	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03414466	Tunicates, previously known as *Urochordata* or urochordates, are members of the *Tunicata*, a subphylum of the phylum *Chordata*. They are marine filter feeders with a saclike morphology. In their respiration and feeding they take in water through an incurrent (or inhalant) siphon and expel the filtered water through an excurrent (or exhalant) siphon. Most adult tunicates are sessile and attached to rocks or similarly suitable surfaces on the ocean floor; others such as salps, doliolids and pyrosomes swim in the pelagic zone as adults. Various species are commonly known as sea squirts or sea pork.	
MONDO:0021632	primary brain neoplasm	biolink:Disease	mondo	NCIT:C4952|ONCOTREE:PBT		primary brain neoplasm|primary brain tumor	http://purl.obolibrary.org/obo/MONDO_0021632		NCIT:C4952
MONDO:0008658	virus Rd114 RNA Complementarity	biolink:Disease	mondo	OMIM:193070		virus Rd114 RNA Complementarity	http://purl.obolibrary.org/obo/MONDO_0008658		http://identifiers.org/omim/193070
MONDO:0033658	neurodevelopmental disorder with seizures and brain atrophy	biolink:Disease	mondo	OMIM:619072		NEDSEBA	http://purl.obolibrary.org/obo/MONDO_0033658		http://identifiers.org/omim/619072
MONDO:0008657	obsolete vibratory angioedema	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0008657		
MONDO:0021633	cerebral astrocytoma	biolink:Disease	mondo	NCIT:C4951|SCTID:99131000119108		cerebral hemispheric astrocytoma|astrocytoma of cerebrum|astrocytoma of cerebral hemispheres|astrocytoma of the cerebrum|astrocytoma of the cerebral hemispheres|astrocytoma (excluding glioblastoma) of cerebral hemisphere|cerebral astrocytoma|cerebral hemisphere astrocytoma (excluding glioblastoma)	http://purl.obolibrary.org/obo/MONDO_0021633	An astrocytoma that arises from the cerebral hemispheres.	NCIT:C4951|SNOMEDCT:99131000119108
MONDO:0033657	leukodystrophy, hypomyelinating, 20	biolink:Disease	mondo	OMIM:619071		HLD20	http://purl.obolibrary.org/obo/MONDO_0033657		http://identifiers.org/omim/619071
MONDO:0008656	benign paroxysmal positional nystagmus	biolink:Disease	mondo	OMIM:193007|UMLS:C0155502|DOID:13941|COHD:81878|GARD:0005915|SCTID:111541001|ICD9:386.11		BRV|vertigo, benign recurrent; BRV|familial vestibulopathy|vertigo, benign recurrent, 1|BPPV|benign paroxysmal positional vertigo|vertigo, benign paroxysmal positional|vertigo, benign recurrent|vestibulopathy, familial|familial benign recurrent vertigo	http://purl.obolibrary.org/obo/MONDO_0008656	Idiopathic recurrent vertigo associated with positional nystagmus. It is associated with a vestibular loss without other neurological or auditory signs. Unlike in labyrinthitis and vestibular neuronitis inflammation in the ear is not observed.	http://identifiers.org/omim/193007|DOID:13941|UMLS:C0155502|SNOMEDCT:111541001
UBERON:0005291	embryonic tissue	biolink:AnatomicalEntity	mondo			developing tissue|portion of embryonic tissue	http://purl.obolibrary.org/obo/UBERON_0005291	A portion of tissue that is part of an embryo.	
MONDO:0008655	vestibulocochlear dysfunction, progressive	biolink:Disease	mondo	MESH:C536346|GARD:0005489|OMIM:193005|UMLS:C2931176	gard_rare	vestibulocochlear dysfunction, progressive|familial progressive vestibulocochlear dysfunction	http://purl.obolibrary.org/obo/MONDO_0008655		UMLS:C2931176|MESH:C536346|http://identifiers.org/omim/193005
UBERON:0005290	myelencephalon	biolink:AnatomicalEntity	mondo			myelencephalon (medulla oblongata)	http://purl.obolibrary.org/obo/UBERON_0005290	The posterior part of the developing vertebrate hindbrain or the corresponding part of the adult brain composed of the medulla oblongata and a portion of the fourth ventricle; as well as the glossopharyngeal nerve (CN IX), vagus nerve (CN X), accessory nerve (CN XI), hypoglossal nerve (CN XII), and a portion of the vestibulocochlear nerve (CN VIII).[BTO,WP].	
MONDO:0008654	NYS4	biolink:Disease	mondo	GARD:0009603|OMIM:193003|MESH:C537856		NYSTAGMUS 4, congenital, autosomal dominant; NYS4|NYSTAGMUS 4, congenital, autosomal dominant|NYS4|vestibulocerebellar disorder with predominant ocular signs	http://purl.obolibrary.org/obo/MONDO_0008654		MESH:C537856|http://identifiers.org/omim/193003
MONDO:0008653	VUR1	biolink:Disease	mondo	OMIM:193000|UMLS:CN032731		vesicoureteral reflux 1; VUR1|VUR|vesicoureteral reflux 1|VUR1	http://purl.obolibrary.org/obo/MONDO_0008653		UMLS:CN032731|http://identifiers.org/omim/193000
MONDO:0008652	congenital vertical talus	biolink:Disease	mondo	DOID:0111568|MESH:C536345|GARD:0005488|Orphanet:178382|SCTID:205082007|MedDRA:10066242|OMIM:192950|ICD10:Q66.8|ICD9:755.67	gard_rare|ordo_morphological_anomaly	vertical talus, congenital; CVT|congenital rocker-bottom foot|congenital convex pes valgus|CVT|pes valgus, congenital convex|rocker-bottom foot|rocker bottom foot|vertical talus|congenital convex foot|rocker-bottom foot deformity|vertical talus, congenital	http://purl.obolibrary.org/obo/MONDO_0008652	Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus.	SNOMEDCT:205082007|http://identifiers.org/omim/192950|MEDDRA:10066242|ORPHA:178382|MESH:C536345|DOID:0111568|UMLS:C0240912
MONDO:0008651	vertebral hypoplasia with lumbar kyphosis	biolink:Disease	mondo	UMLS:C1860463|OMIM:192900|MESH:C566002		vertebral hypoplasia with lumbar kyphosis	http://purl.obolibrary.org/obo/MONDO_0008651		http://identifiers.org/omim/192900|MESH:C566002|UMLS:C1860463
MONDO:0008650	posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome	biolink:Disease	mondo	GARD:0002276|GARD:0005487|UMLS:C1860464|Orphanet:2064|OMIM:192800|MESH:C536344|ICD10:Q87.5|SCTID:724064004	gard_rare|ordo_malformation_syndrome	vertebral fusion, POSTERIOR lumbosacral, with blepharoptosis|congenital ptosis and posterior fusion of lumbosacral vertebrae|Faulk-Epstein-Jones syndrome|Faulk Epstein Jones syndrome|familial posterior lumbosacral vertebral fusion and eyelid ptosis|vertebral fusion posterior lumbosacral blepharoptosis	http://purl.obolibrary.org/obo/MONDO_0008650	Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome is characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.	http://identifiers.org/omim/192800|ORPHA:2064|SNOMEDCT:724064004|UMLS:C1860464|MESH:C536344
UBERON:0005299	prepuce of clitoris	biolink:AnatomicalEntity	mondo			preputium clitoridis|prepuce of the clitoris|prepuce of female|clitoral prepuce|clitoris prepuce|clitoral hood	http://purl.obolibrary.org/obo/UBERON_0005299	A retractable double-layered fold of skin and mucous membrane that covers the clitoral glans.	
UBERON:0005298	skin of clitoris	biolink:AnatomicalEntity	mondo			clitoris skin	http://purl.obolibrary.org/obo/UBERON_0005298	A zone of skin that is part of a clitoris [Automatically generated definition].	
UBERON:0005297	testis sex cord	biolink:AnatomicalEntity	mondo			testis cord|primary sex cord|testis primitive sex cord|testis primary sex cords	http://purl.obolibrary.org/obo/UBERON_0005297	The testis cords are precursors to the rete testis. They play several different roles in the development of the male genitals[WP].	
UBERON:0005296	ovary sex cord	biolink:AnatomicalEntity	mondo			cortical cord|secondary cord|ovigerous cord|ovigerous cords|cortical sex cord|ovary primitive sex cord	http://purl.obolibrary.org/obo/UBERON_0005296	structures that develop from sex cords in the female. After further development they become the ovarian follicles.	
NCBITaxon:55746	Panagrolaimoidea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_55746		
UBERON:0005295	sex cord	biolink:AnatomicalEntity	mondo			gonadal cord|genital cord|gonad cord|primitive sex cord	http://purl.obolibrary.org/obo/UBERON_0005295	Cordlike masses of epithelial tissue that invaginate from germinal epithelium of the gonad and give rise to seminiferous tubules and rete testes in the male, and primary ovarian follicles and rete ovarii in the female.	
UBERON:0005294	gonadal ridge	biolink:AnatomicalEntity	mondo			indifferent gonadal ridge|genital cord|genital ridge|gonadal ridge|crista gonadalis	http://purl.obolibrary.org/obo/UBERON_0005294	the elevation of thickened mesothelium and underlying mesenchyme found on the ventromedial border of the embryonic mesonephros in which the primordial germ cells become embedded, establishing it as the primordium of the testis or ovary	
UBERON:0005292	extraembryonic tissue	biolink:AnatomicalEntity	mondo			extra-embryonic tissue	http://purl.obolibrary.org/obo/UBERON_0005292	Portion of tissue that is contiguous with the embryo and is comprised of portions of tissue or cells that will not contribute to the embryo.	
MONDO:0033667	Delpire-McNeill syndrome	biolink:Disease	mondo	OMIM:619083		DELMNES	http://purl.obolibrary.org/obo/MONDO_0033667		http://identifiers.org/omim/619083
HGNC:18337	PADI3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18337		
MONDO:0033665	deafness, autosomal dominant 78	biolink:Disease	mondo	OMIM:619081		DFNA78	http://purl.obolibrary.org/obo/MONDO_0033665		http://identifiers.org/omim/619081
MONDO:0033664	Kilquist syndrome	biolink:Disease	mondo	OMIM:619080		KILQS	http://purl.obolibrary.org/obo/MONDO_0033664	An autosomal recessive multisystem disorder characterized by neurologic, gastrointestinal, and secretory dysfunction. Affected individuals present at birth with hypotonia, feeding difficulties, mild dysmorphic features, and sensorineural hearing loss. They show poor overall growth associated with gastrointestinal anomalies such as gastroesophageal reflux or midgut malrotation, as well as profound global developmental delay with inability to sit or speak. Tear, sweat, and saliva production is also impaired, causing dry mouth and recurrent bronchial mucus plugging. Some of the clinical features are reminiscent of cystic fibrosis.	http://identifiers.org/omim/619080
MONDO:0021627	eyelid capillary hemangioma	biolink:Disease	mondo	SCTID:231828003|NCIT:C4357|UMLS:C0339110		capillary angioma of the eyelid|capillary hemangioma of eyelid|capillary hemangioma of the eyelid|capillary hemangioma of the lid|capillary hemangioma of lid|eyelid capillary angioma|capillary angioma of the lid|capillary angioma of lid|capillary angioma of eyelid|eyelid capillary hemangioma	http://purl.obolibrary.org/obo/MONDO_0021627	A capillary hemangioma arising from the eyelid.	SNOMEDCT:231828003|NCIT:C4357|UMLS:C0339110
MONDO:0021628	obsolete lacrimal system disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021628		
MONDO:0033662	neurodevelopmental disorder with microcephaly, seizures, and brain atrophy	biolink:Disease	mondo	OMIM:619076		NEDMISB	http://purl.obolibrary.org/obo/MONDO_0033662		http://identifiers.org/omim/619076
MONDO:0021629	uterine ligament neoplasm	biolink:Disease	mondo	UMLS:C1519870|NCIT:C40133		uterine ligament neoplasm|tumor of uterine ligament|neoplasm of the uterine ligament|neoplasm of uterine ligament|uterine ligament tumor|uterine ligament neoplasm (disease)|tumor of the uterine ligament	http://purl.obolibrary.org/obo/MONDO_0021629	A benign, borderline, or malignant neoplasm that affects the uterine ligaments. Representative examples include Wolffian adnexal tumor, papillary cystadenoma, and adenocarcinoma.	UMLS:C1519870|NCIT:C40133
HGNC:18340	WDR19	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18340		
MONDO:0006008	vestibular neuronitis	biolink:Disease	mondo	SCTID:186738001|UMLS:C0751908|ICD9:078.81|MESH:D020338|DOID:12683|ICD10:H81.2|ICD10:A88.1|ICD9:386.12|ICD10:H81.20|EFO:0007537		vestibular neuritis|epidemic neurolabyrinthitis	http://purl.obolibrary.org/obo/MONDO_0006008	Idiopathic inflammation of the vestibular nerve, characterized clinically by the acute or subacute onset of vertigo; nausea; and imbalance. The cochlear nerve is typically spared and hearing loss and tinnitus do not usually occur. Symptoms usually resolve over a period of days to weeks. (Adams et al., Principles of Neurology, 6th ed, p304)	UMLS:C0751908|DOID:12683|SNOMEDCT:186738001|MESH:D020338
MONDO:0006009	viral encephalitis	biolink:Disease	mondo	SCTID:34476008|MedDRA:10058805|Orphanet:98252|UMLS:C0243010|COHD:372547|DOID:646|NCIT:C35302|EFO:0007538		epidemic encephalitis|Viruses encephalitis|Viruses caused encephalitis|viral encephalitis	http://purl.obolibrary.org/obo/MONDO_0006009	Encephalitis resulting from viral infection.	SNOMEDCT:34476008|UMLS:C0596773|MEDDRA:10058805|UMLS:C0243010|NCIT:C35302|ORPHA:98252|DOID:646
MONDO:0006006	verrucous carcinoma	biolink:Disease	mondo	EFO:0007535|SCTID:403904009|NCIT:C3781|UMLS:C0206706|MESH:D018289|DOID:3737|ICDO:8051/3|ICD9:199.1		verrucous epidermoid cell carcinoma|verrucous carcinoma|verrucous epidermoid carcinoma|verrucous carcinoma NOS (morphologic abnormality)|verrucous squamous carcinoma|verrucous squamous cell carcinoma|warty carcinoma	http://purl.obolibrary.org/obo/MONDO_0006006	A well differentiated squamous cell carcinoma characterized by a papillary growth pattern, acanthosis, mild cytologic atypia, and pushing tumor margins. The most commonly affected anatomic sites are the oral cavity, nasal cavity, larynx, esophagus, anus, vagina, vulva, and the plantar region of the foot.	UMLS:C0206706|SNOMEDCT:403904009|MESH:D018289|DOID:3737|NCIT:C3781
MONDO:0033669	Noonan syndrome 13	biolink:Disease	mondo	OMIM:619087		NS13	http://purl.obolibrary.org/obo/MONDO_0033669		http://identifiers.org/omim/619087
MONDO:0008669	vulvovaginitis, allergic seminal	biolink:Disease	mondo	OMIM:193450|UMLS:C1860357|MESH:C565993		vulvovaginitis, allergic seminal	http://purl.obolibrary.org/obo/MONDO_0008669		MESH:C565993|http://identifiers.org/omim/193450|UMLS:C1860357
MONDO:0033668	deafness, autosomal dominant 79	biolink:Disease	mondo	OMIM:619086		DFNA79	http://purl.obolibrary.org/obo/MONDO_0033668		http://identifiers.org/omim/619086
MONDO:0006007	vesicoureteral reflux (disease)	biolink:Disease	mondo	DOID:9620|ICD10:N13.70|ICD10:N13.7|SCTID:197811007|MESH:D014718|HP:0000076|OMIMPS:193000|ICD9:593.7|EFO:0007536|UMLS:C0042580		vesicoureteral reflux|vesico-ureteral reflux	http://purl.obolibrary.org/obo/MONDO_0006007	Abnormal flow of urine from the urinary bladder back into the ureters.	SNOMEDCT:197811007|NCIT:C84467|DOID:9620|MESH:D014718|UMLS:C0042580
MONDO:0008668	von Willebrand disease 1	biolink:Disease	mondo	DOID:0060573|ICD10:D68.0|Orphanet:166078|NCIT:C131685|SCTID:128106003|OMIM:193400|MESH:D056725|UMLS:C1264039	ordo_clinical_subtype	VON WILLEBRAND disease, type 1; VWD1|von Willebrand's disease type 1|von willebrand's disease 1|VWD type 1|von Willebrand disease type I|Von Willebrand disease, type 1|VON WILLEBRAND disease, type 1|VWD1|von Willebrand disease type 1|VWD, type 1	http://purl.obolibrary.org/obo/MONDO_0008668	Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF).	http://identifiers.org/omim/193400|NCIT:C131685|DOID:0060573|ORPHA:166078|MESH:D056725|SNOMEDCT:128106003|UMLS:C1264039
UBERON:0017261	intertarsal sesamoid	biolink:AnatomicalEntity	mondo			tarsal sesamoid	http://purl.obolibrary.org/obo/UBERON_0017261	A sesamoid element that is part of a tarsal skeleton.	
MONDO:0006004	vasomotor rhinitis	biolink:Disease	mondo	NCIT:C34988|EFO:0007533|COHD:4305500|MESH:D012223|ICD10:J30.0|SCTID:8229003|UMLS:C0035460|DOID:4730			http://purl.obolibrary.org/obo/MONDO_0006004	Inflammation in the nasal cavity mucosa that results from the abnormal regulation of the blood flow in the nose. It may be caused by temperature fluctuations, air pollution, strong odors, and tobacco smoke. It results in chronic nasal congestion, sneezing, and running nose.	UMLS:C0035460|SNOMEDCT:8229003|MESH:D012223|NCIT:C34988|DOID:4730
MONDO:0008667	von Hippel-Lindau disease	biolink:Disease	mondo	UMLS:C0019562|MESH:D006623|MedDRA:10047716|SCTID:46659004|Orphanet:892|ICD10:Q85.8|DOID:14175|OMIM:193300|ICD9:759.6|GARD:0007855|NCIT:C3105	ordo_disease|clingen|gard_rare	Von Hippel-Lindau syndrome, Modifiers of|Von Hippel Lindau disease|von Hippel-Lindau syndrome|VON Hippel-Lindau syndrome|familial cerebelloretinal angiomatosis|Lindau disease|VHL|Von Hippel-Lindau syndrome|VON Hippel-Lindau syndrome; VHL|VHL syndrome|Hippel Lindau syndrome|Von Hippel-Lindau syndrome (VHL)|cerebroretinal angiomatosis	http://purl.obolibrary.org/obo/MONDO_0008667	Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.	UMLS:C0019562|MESH:D006623|SNOMEDCT:46659004|NCIT:C3105|DOID:14175|MEDDRA:10047716|ORPHA:892|http://identifiers.org/omim/193300
MONDO:0006005	Venezuelan equine encephalitis	biolink:Disease	mondo	MESH:D004685|EFO:0007534|NCIT:C35121|GARD:0006355|SCTID:417067005|DOID:9584|UMLS:C0014078|ICD9:066.2|ICD10:A92.2	gard_rare	Venezuelan equine encephalitis virus infectious disease|Venezuelan equine encephalitis virus disease or disorder|Venezuelan equine encephalitis virus caused disease or disorder|Venezuelan equine fever	http://purl.obolibrary.org/obo/MONDO_0006005	A condition caused by infection by the Venezuelan equine encephalitis virus, which is characterized by headache, fever, myalgia, nausea, and vomiting.	DOID:9584|MESH:D004685|SNOMEDCT:417067005|NCIT:C35121|UMLS:C0014078
MONDO:0008666	volvulus of midgut	biolink:Disease	mondo	SCTID:458422009|NCIT:C98961|OMIM:193250|MESH:C562456		congenital malrotation of intestine|volvulus of midgut|intestinal malrotation|intestinal malrotation, familial	http://purl.obolibrary.org/obo/MONDO_0008666	A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction.	MESH:C562456|NCIT:C98961|SNOMEDCT:458422009|http://identifiers.org/omim/193250
MONDO:0008665	ptosis-vocal cord paralysis syndrome	biolink:Disease	mondo	OMIM:193240|UMLS:C1860403|Orphanet:2997|MESH:C536923|GARD:0000427	ordo_malformation_syndrome	congenital bilateral recurrent nerve paralysis and ptosis|ptosis vocal cord paralysis|tucker syndrome|vocal cord paralysis and ptosis	http://purl.obolibrary.org/obo/MONDO_0008665	Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983.	ORPHA:2997|UMLS:C1860403|http://identifiers.org/omim/193240|MESH:C536923
MONDO:0006002	urogenital tuberculosis	biolink:Disease	mondo	ICD9:016.90|EFO:0007531|ICD9:016.92|ICD9:016|ICD10:A18.1|DOID:2149|MESH:D014401|COHD:73686|ICD10:A18.10|UMLS:C0041333|ICD9:016.9|SCTID:4445009		genitourinary system tuberculosis|genitourinary tuberculosis	http://purl.obolibrary.org/obo/MONDO_0006002	A general term for mycobacterium infections of any part of the urogenital system in either the male or the female.	SNOMEDCT:4445009|MESH:D014401|UMLS:C0041333|DOID:2149
MONDO:0006003	uterine corpus cancer	biolink:Disease	mondo	EFO:0007532|ICD10:C54|ICD9:182|NCIT:C61574|SCTID:371972005|ICD10:C54.9|DOID:9460|COHD:4156113		malignant body of uterus neoplasm|endometrial cancer|cancer of body of uterus|corpus uteri cancer|cancer of the corpus uteri|uterine corpus cancer|body of uterus cancer|malignant neoplasm of body of uterus|uterine (including endometrial) cancer	http://purl.obolibrary.org/obo/MONDO_0006003	A malignant neoplasm involving the body of uterus.	NCIT:C61574|DOID:9460|SNOMEDCT:371972005
MONDO:0008664	autosomal dominant neovascular inflammatory vitreoretinopathy	biolink:Disease	mondo	ICD10:H35.2|Orphanet:329211|SCTID:232016005|OMIM:193235|ICD9:362.29	ordo_disease	VRNI|vitreoretinopathy, neovascular inflammatory, autosomal dominant|proliferative vitreoretinopathy|vitreoretinopathy, neovascular inflammatory; VRNI|ADNIV|vitreoretinopathy, neovascular inflammatory	http://purl.obolibrary.org/obo/MONDO_0008664	Autosomal dominant neovascular inflammatory vitreoretinopathy is a rare, genetic, vitreoretinal degeneration characterized by a slowly progressive vitreoretinopathy with onset during the second or third decade of life. The disease initially presents as autoimmune uveitis with reduction in the b-wave on electroretinography, and progresses with development of photoreceptor degeneration, vitreous hemorrhage, cystoid macular edema, retinal neovascularization, intraocular fibrosis, secondary glaucoma, and retinal detachment leading to phthisis and complete blindness.	ORPHA:329211|http://identifiers.org/omim/193235|SNOMEDCT:232016005
MONDO:0006000	tuberculous peritonitis	biolink:Disease	mondo	MESH:D014395|ICD9:014.0|DOID:9801|ICD9:014.00|COHD:194268|ICD10:A18.31|EFO:0007529|ICD9:014.01|UMLS:C0041325|SCTID:44572005		Mycobacterium tuberculosis peritonitis|Mycobacterium tuberculosis caused peritonitis	http://purl.obolibrary.org/obo/MONDO_0006000	A form of peritonitis seen in patients with tuberculosis, characterized by lesion either as a miliary form or as a pelvic mass on the peritoneal surfaces. Most patients have ascites, abdominal swelling, abdominal pain, and other systemic symptoms such as fever; weight loss; and anemia.	DOID:9801|MESH:D014395|UMLS:C0041325|SNOMEDCT:44572005
MONDO:0008663	snowflake vitreoretinal degeneration	biolink:Disease	mondo	OMIM:193230|UMLS:C1860405|Orphanet:91496|ICD10:H35.5|DOID:0111570|MESH:C536677|GARD:0009706	ordo_disease|gard_rare	snowflake vitreoretinal degeneration|vitreoretinal degeneration, snowflake type|snowflake degeneration in hereditary vitreoretinal degeneration|vitreoretinal degeneration, snowflake type; SVD|SVD	http://purl.obolibrary.org/obo/MONDO_0008663	Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36.	ORPHA:91496|UMLS:C1860405|MESH:C536677|DOID:0111570|http://identifiers.org/omim/193230
MONDO:0008662	autosomal dominant vitreoretinochoroidopathy	biolink:Disease	mondo	ICD10:H35.5|UMLS:C3888099|GARD:0005507|SCTID:711162004|DOID:0111569|MESH:C536352|OMIM:193220|Orphanet:3086	ordo_disease	vitreoretinochoroidopathy, autosomal dominant|vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos|microcornea, Rod-cone dystrophy, cataract, and posterior staphyloma|VRCP|vitreoretinochoroidopathy dominant|vitreoretinochoroidopathy; VRCP|vitreoretinochoroidopathy with microcornea, glaucoma, and cataract|ADVIRC|VRCP autosomal dominant|vitreoretinochoroidopathy	http://purl.obolibrary.org/obo/MONDO_0008662	Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees.	ORPHA:3086|UMLS:C3888099|MESH:C536352|SNOMEDCT:711162004|DOID:0111569|http://identifiers.org/omim/193220
MONDO:0006001	urinary schistosomiasis	biolink:Disease	mondo	DOID:1394|EFO:0007530|UMLS:C1704430|NCIT:C39294|MESH:D012553|ICD9:120.0|COHD:436350|UMLS:C0276926|SCTID:236706006		schistosomiasis of bladder|schistosomiasis due to Schistosoma haematobium|Schistosoma haematobium (& vesical schistosomiasis)|Schistosoma haematobium|urinary schistosomiasis|Schistosoma hematobium infectious disease|Schistosoma haematobium infection|cystitis with bilharziasis|Schistosoma hematobium infection|urinary bladder schistosomiasis|bladder schistosomiasis|vesical schistosomiasis	http://purl.obolibrary.org/obo/MONDO_0006001	A bladder infection that occurs as a manifetation of a systemic infection with one or more species of the parasitic worms of the Schistosoma type; this can progress to bladder cancer in time.	UMLS:C1704430|UMLS:C0276926|DOID:1394|NCIT:C39294|SNOMEDCT:236706006|MESH:D012553
MONDO:0008661	vitiligo	biolink:Disease	mondo	UMLS:C0042900|EFO:0004208|DOID:12306|NCIT:C26915|OMIM:193200|ICD9:709.01|MESH:D014820|ICD10:L80|COHD:138502		vitiligo-associated multiple autoimmune disease susceptibility 6|VAMAS6|vitiligo-associated multiple autoimmune disease susceptibility 6; VAMAS6	http://purl.obolibrary.org/obo/MONDO_0008661	Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes.	NCIT:C26915|MESH:D014820|UMLS:C0042900|http://identifiers.org/omim/193200|DOID:12306
MONDO:0008660	autosomal dominant hypophosphatemic rickets	biolink:Disease	mondo	DOID:0050948|OMIM:193100|Orphanet:89937|ICD10:E83.3|UMLS:C0342642|MESH:C562791|SCTID:237889002	ordo_disease	autosomal dominant hereditary hypophosphatemic rickets|hypophosphatemic rickets, autosomal dominant; ADHR|ADHR|hereditary hypophosphatemic rickets, autosomal dominant|vitamin D-resistant rickets, autosomal dominant|autosomal dominant hypophosphatemia|hypophosphatemia, autosomal dominant|hypophosphatemic rickets, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008660	Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.	MESH:C562791|SNOMEDCT:237889002|ORPHA:89937|http://identifiers.org/omim/193100|UMLS:C0342642|DOID:0050948
UBERON:0005288	tela choroidea of third ventricle	biolink:AnatomicalEntity	mondo			tela choroidea ventriculi tertii|tela chorioidea third ventricle|tela chorioidea of third ventricle|choroid membrane of third ventricle|tela choroidea ventriculi tertii|tela choroidea third ventricle	http://purl.obolibrary.org/obo/UBERON_0005288	Tela chorioidea that lines the third ventricle[ZFA]. The part of the choroid plexus in relation to the body of the ventricle forms the vascular fringed margin of a triangular process of pia mater, named the tela chorioidea of the third ventricle, and projects from under cover of the lateral edge of the fornix. Blood is supplied by branches from the superior cerebellar artery[WP].	
MONDO:0033670	deafness, autosomal recessive 116	biolink:Disease	mondo	OMIM:619093		DFNB116	http://purl.obolibrary.org/obo/MONDO_0033670		http://identifiers.org/omim/619093
UBERON:0005287	tela choroidea of fourth ventricle	biolink:AnatomicalEntity	mondo			tela choroidea|tela choroidea of fourth ventricle|tela choroidea fourth ventricle|choroid membrane of fourth ventricle|tela choroidea ventriculi quarti|choroid membrane|tela choroidea ventriculi quarti|tela chorioidea fourth ventricle	http://purl.obolibrary.org/obo/UBERON_0005287	Tela chorioidea that lines the fourth ventricle[ZFA]. The tela chorioidea of the fourth ventricle is the name applied to the triangular fold of pia mater which is carried upward between the cerebellum and the medulla oblongata. It consists of two layers, which are continuous with each other in front, and are more or less adherent throughout: The posterior layer covers the antero-inferior surface of the cerebellum. The anterior layer is applied to the structures which form the lower part of the roof of the ventricle, and is continuous inferiorly with the pia mater on the inferior peduncles and closed part of the medulla[WP].	
UBERON:0005283	tela choroidea	biolink:AnatomicalEntity	mondo			tela chorioidea	http://purl.obolibrary.org/obo/UBERON_0005283	A structure found in the walls of the ventricles of the brain, consisting of part of the meninges (pia mater in mammals) plus ependyma[cjm].	
UBERON:0005282	ventricular system of brain	biolink:AnatomicalEntity	mondo			brain ventricular system	http://purl.obolibrary.org/obo/UBERON_0005282		
UBERON:0005281	ventricular system of central nervous system	biolink:AnatomicalEntity	mondo			ventricular system|ventricular system of neuraxis|ventriculi cerebri|ventricle system|CNS ventricular system	http://purl.obolibrary.org/obo/UBERON_0005281	A set of structures containing cerebrospinal fluid in the brain. It is continuous with the central canal of the spinal cord[WP].	
HGNC:18348	TICAM1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18348		
MONDO:0031013	autoimmune optic neuritis	biolink:Disease	mondo	DOID:0040089			http://purl.obolibrary.org/obo/MONDO_0031013	An autoimmune form of optic neuritis.	DOID:0040089
MONDO:0031014	autoimmune gastritis	biolink:Disease	mondo	NCIT:C95752|DOID:0040090		autoimmune gastritis (disease)	http://purl.obolibrary.org/obo/MONDO_0031014	Inflammation of the body fundic mucosa of the stomach. It results from the development of autoantibodies against the parietal and chief cells. It is associated with the presence of intestinal metaplasia and an increased risk of developing gastric carcinoma.	DOID:0040090|NCIT:C95752
MONDO:0031012	autoimmune uveitis	biolink:Disease	mondo	DOID:0040088		autoimmune uveitis (disease)	http://purl.obolibrary.org/obo/MONDO_0031012	An autoimmune form of uveitis (disease).	DOID:0040088
MONDO:0033673	spermatogenic failure 46	biolink:Disease	mondo	OMIM:619095		SPGF46	http://purl.obolibrary.org/obo/MONDO_0033673		http://identifiers.org/omim/619095
MONDO:0033672	Duane anomaly-myopathy-scoliosis syndrome	biolink:Disease	mondo	Orphanet:50817	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0033672	Duane anomaly-myopathy-scoliosis syndrome is characterised by the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of sibs. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. It differs from the Crisfield-Dretakis-Sharpe syndrome, in which short stature and muscular features are absent. Surgery of the scoliosis is necessary. Functional prognosis depends on the severity of the visual handicap.	ORPHA:50817
MONDO:0033671	spermatogenic failure 45	biolink:Disease	mondo	OMIM:619094		SPGF45	http://purl.obolibrary.org/obo/MONDO_0033671		http://identifiers.org/omim/619094
UBERON:0005289	tela choroidea of telencephalic ventricle	biolink:AnatomicalEntity	mondo			tela choroidea of lateral ventricle|tela choroidea telencephalic ventricle|tela chorioidea telencephalic ventricle|tela choroidea (ventriculi lateralis)|tela chorioidea of lateral ventricle|tela chorioidea of telencephalic ventricle	http://purl.obolibrary.org/obo/UBERON_0005289	Tela chorioidea that lines the telencephalic ventricle.	
MONDO:0018040	obsolete immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells	biolink:Disease	mondo	Orphanet:331240			http://purl.obolibrary.org/obo/MONDO_0018040		ORPHA:331240
MONDO:0018042	immunodeficiency syndrome with abnormal pigmentation	biolink:Disease	mondo	UMLS:CN204283|Orphanet:331249	ordo_group_of_disorders	immunodeficiency syndrome with hypopigmentation	http://purl.obolibrary.org/obo/MONDO_0018042		ORPHA:331249|UMLS:CN204283
MONDO:0018041	other immunodeficiency syndrome with predominantly antibody defects	biolink:Disease	mondo	Orphanet:331244|ICD10:D80.8|UMLS:CN204282	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018041		ORPHA:331244|UMLS:CN204282
MONDO:0021697	chlamydia infectious disease	biolink:Disease	mondo	MESH:D023521|MESH:D002690|MONDO:0006697|EFO:1000863		infections, Chlamydia|infection, Chlamydia|Chlamydia infection|chlamydia infectious disease|Chlamydophila caused disease or disorder|Chlamydia infectious disease|Chlamydia disease or disorder|Chlamydia caused disease or disorder|Chlamydophila disease or disorder	http://purl.obolibrary.org/obo/MONDO_0021697	Infections with bacteria of the genus CHLAMYDIA.	MESH:D023521|MESH:D002690
MONDO:0021698	alcohol-related disorders	biolink:Disease	mondo	MESH:D019973|SCTID:29212009		disorders, alcohol-related|alcohol-related disorder|alcohol related disorders|disorder, alcohol-related	http://purl.obolibrary.org/obo/MONDO_0021698	Disorders related to or resulting from abuse or mis-use of alcohol.	MESH:D019973|SNOMEDCT:29212009
MONDO:0021699	alcohol-induced disorders	biolink:Disease	mondo	SCTID:719848005|MESH:D020751|UMLS:C0236970		alcohol induced disorders|alcohol-induced disorder	http://purl.obolibrary.org/obo/MONDO_0021699	Disorders stemming from the misuse and abuse of alcohol.	UMLS:C0236970|MESH:D020751|SNOMEDCT:719848005
MONDO:0006059	nasal cavity squamous cell carcinoma	biolink:Disease	mondo	UMLS:C0280333|EFO:1000057|NCIT:C8192|DOID:5515		squamous cell carcinoma of nasal cavity|squamous cell carcinoma of the nasal cavity|nasal cavity squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0006059	A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass.	NCIT:C8192|DOID:5515|UMLS:C0280333
MONDO:0006057	obsolete thymic lymphoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006057		
MONDO:0006058	Wilms tumor	biolink:Disease	mondo	UMLS:CN244940|EFO:1000056|OMIMPS:194070|MESH:D009396|NCIT:C3267|GARD:0007892		Wilms tumor (nephroblastoma)|Wilms' tumor|Wilms tumor	http://purl.obolibrary.org/obo/MONDO_0006058	An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix.	UMLS:CN244940|MESH:D009396|NCIT:C3267
MONDO:0006055	sex cord-stromal tumor	biolink:Disease	mondo	UMLS:C0206724|UMLS:C1515289|EFO:1000052|DOID:192|EFO:0007483|NCIT:C3794|ICDO:8590/1		tumor of sex cord|sex cord-gonadal stromal tumor|sex cord neoplasm|Sex cord-stromal tumor, no ICD-O subtype (morphologic abnormality)|specialized gonadal tumor (qualifier value)|specialized gonadal neoplasm NOS (morphologic abnormality)|Sex cord-stromal neoplasm|malignant testicular sex cord-stromal tumor|Sex cord-stromal tumor, no ICD-O subtype|sex cord-stromal tumor|neoplasm of sex cord|sex cord tumor|specialized gonadal neoplasm (morphologic abnormality)|Sex cord stromal tumour|specialized gonadal tumor|Sex cord-stromal tumor|specialized gonadal neoplasm	http://purl.obolibrary.org/obo/MONDO_0006055	A neoplasm involving a sex cord.	NCIT:C3794|DOID:192|UMLS:C0206724|UMLS:C1515289
MONDO:0006056	squamous cell breast carcinoma	biolink:Disease	mondo	DOID:5514|ONCOTREE:MSCC|UMLS:C1336079|EFO:1000053|NCIT:C5177		squamous cell breast carcinoma|breast primary squamous cell carcinoma|primary squamous cell breast carcinoma|squamous breast carcinoma|primary squamous cell carcinoma of the breast|squamous carcinoma of breast|primary squamous cell carcinoma of breast|squamous carcinoma of the breast|squamous cell carcinoma of breast|squamous cell carcinoma of the breast|breast squamous cell carcinoma|metaplastic squamous cell carcinoma|scc of breast|scc of the breast	http://purl.obolibrary.org/obo/MONDO_0006056	A rare carcinoma that arises from the breast parenchyma and is entirely composed of squamous cells.	DOID:5514|UMLS:C1336079|NCIT:C5177
MONDO:0006053	renal leiomyoma	biolink:Disease	mondo	EFO:1000050		kidney leiomyoma|leiomyoma of kidney	http://purl.obolibrary.org/obo/MONDO_0006053	A leiomyoma that involves the kidney.	
MONDO:0006054	reproductive system neoplasm	biolink:Disease	mondo	NCIT:C3674|UMLS:C0178830|EFO:1000051		reproductive system neoplasm (disease)|tumor of reproductive system|neoplasm of the reproductive system|reproductive system neoplasm|tumor of the reproductive system|neoplasm of reproductive system|reproductive system tumor|reproductive tumor|reproductive neoplasm	http://purl.obolibrary.org/obo/MONDO_0006054	A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system.	UMLS:C0178830|NCIT:C3674
MONDO:0006051	postweaning multisystemic wasting syndrome	biolink:Disease	mondo	EFO:1000048			http://purl.obolibrary.org/obo/MONDO_0006051	Pig disease caused by porcine circovirus type 2 (PCV2). Most representative symptoms include wasting, unthriftness, paleness of the skin, respiratory distress, diarrhea and sometimes icterus.	
MONDO:0006052	pulmonary tuberculosis	biolink:Disease	mondo	MESH:D014397|ICD9:011.86|ICD9:011.96|ICD9:011.85|DOID:2957|ICD9:011.84|ICD9:011.92|ICD9:011.81|ICD9:011.80|ICD10:A15.0|SCTID:154283005|ICD9:011.90|ICD10:A15|ICD9:011|UMLS:C0041327|NCIT:C26899|ICD9:011.16|ICD9:011.9|EFO:1000049|COHD:253954		lung TB|pulmonary TB|lung tuberculosis	http://purl.obolibrary.org/obo/MONDO_0006052	A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss.	UMLS:C0041327|DOID:2957|NCIT:C26899|SNOMEDCT:154283005|MESH:D014397
MONDO:0006050	pleomorphic breast carcinoma	biolink:Disease	mondo	NCIT:C5161|EFO:1000047|UMLS:C1514169|UMLS:C2211689		anaplastic breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0006050	A rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate.	UMLS:C2211689|NCIT:C5161|UMLS:C1514169
HGNC:18318	ASXL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18318		
MONDO:0018048	heparin-induced thrombocytopenia (disease)	biolink:Disease	mondo	COHD:433749|ICD9:289.84|MedDRA:10062506|ICD10:D69.5|GARD:0002650|Orphanet:3325|HP:0011874|UMLS:C0272285|SCTID:73397007	ordo_disease	HIT|HAT|heparin-associated thrombocytopenia|heparin-induced thrombocytopenia type 2|heparin-induced thrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0018048	Heparin-induced thrombocytopenia (HIT) is a drug-induced, immune-mediated prothrombotic disorder associated with thrombocytopenia and venous and/or arterial thrombosis.	MEDDRA:10062506|SNOMEDCT:73397007|UMLS:C0272285|ORPHA:3325
MONDO:0018047	familial thrombomodulin anomalies	biolink:Disease	mondo	UMLS:C2931365|GARD:0005195|ICD10:D68.8|Orphanet:3324|MESH:C536900|HGNC:11784	ordo_disease|gard_rare	thrombomodulin anomalies, familial	http://purl.obolibrary.org/obo/MONDO_0018047		MESH:C536900|UMLS:C2931365|ORPHA:3324
MONDO:0018049	obsolete Kaposi sarcoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018049		
HGNC:21957	KCTD7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/21957		
MONDO:0018044	idiopathic hypersomnia	biolink:Disease	mondo	ICD10:F51.1|Orphanet:33208|UMLS:C0751757|NCIT:C116343|GARD:0008737|SCTID:3731000119107|MESH:D020177	ordo_disease|gard_rare	primary hypersomnia|idiopathic hypersomnolence	http://purl.obolibrary.org/obo/MONDO_0018044	Idiopathic hypersomnia is a sleep disorder classified in two forms: idiopathic hypersomnia with long sleep time and idiopathic hypersomnia without long sleep time.	NCIT:C116343|SNOMEDCT:3731000119107|UMLS:C0751757|MESH:D020177|ORPHA:33208
MONDO:0018043	Thomas syndrome	biolink:Disease	mondo	Orphanet:3316|SCTID:716740009|ICD10:Q87.8|UMLS:C2931225|MESH:C536514|GARD:0005175	ordo_malformation_syndrome	Potter sequence-cleft lip/palate-cardiopathy syndrome	http://purl.obolibrary.org/obo/MONDO_0018043	Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive.	MESH:C536514|SNOMEDCT:716740009|UMLS:C2931225|ORPHA:3316
MONDO:0018046	thrombocytopenia-robin sequence syndrome	biolink:Disease	mondo	UMLS:C2931364|GARD:0005193|Orphanet:3323|MESH:C536898	ordo_malformation_syndrome	Braddock-Carey syndrome|congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay|Braddock Carey syndrome|thrombocytopenia Robin sequence	http://purl.obolibrary.org/obo/MONDO_0018046		MESH:C536898|UMLS:C2931364|ORPHA:3323
MONDO:0018045	Hoyeraal-Hreidarsson syndrome	biolink:Disease	mondo	MESH:C536068|UMLS:C1846142|Orphanet:3322|SCTID:707276009|GARD:0000346|ICD10:D61.0	ordo_disease	Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia|progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome|Hoyeraal Hreidarsson syndrome	http://purl.obolibrary.org/obo/MONDO_0018045	Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.	MESH:C536068|SNOMEDCT:707276009|UMLS:C1846142|ORPHA:3322
MONDO:0021681	sexually transmitted disease	biolink:Disease	mondo	UMLS:C0036916|MESH:D012749|ICD9:099.8|ICD10:A50.A64|NCIT:C3365|SCTID:8098009|ICD9:099.9		infection, sexually Transmitted|venereal disease (VD)|Transmitted infection, sexually|STDs|venereal disease|VD, venereal disease|diseases, venereal|infections, sexually Transmitted|sexually Transmitted infection|disease (VD), venereal|STIs|sexually transmitted disease|disease, sexually Transmitted|STD|Transmitted infections, sexually|sexually Transmitted infections|diseases, sexually Transmitted|sexually Transmitted disorder|VD|disease, venereal|STI|venereal diseases	http://purl.obolibrary.org/obo/MONDO_0021681	A Disease due to or propagated by sexual contact.	SNOMEDCT:8098009|UMLS:C0036916|NCIT:C3365|MESH:D012749
MONDO:0021682	viral sexually transmitted disease	biolink:Disease	mondo	MESH:D015229|UMLS:C0036918		disease, viral venereal|viral sexually Transmitted diseases|viral venereal disease|venereal disease, viral|diseases, viral venereal|venereal diseases, viral|viral sexually transmitted disease|sexually Transmitted disease, viral|viral venereal diseases	http://purl.obolibrary.org/obo/MONDO_0021682	Viral diseases which are potentially transmitted or propagated by sexual conduct.	UMLS:C0036918|MESH:D015229
MONDO:0018031	granulomatous slack skin disease	biolink:Disease	mondo	NCIT:C35464|SCTID:277796003|ICD10:C84.0|UMLS:C0376407|Orphanet:33111|GARD:0010986	ordo_disease	granulomatous slack skin	http://purl.obolibrary.org/obo/MONDO_0018031	Granulomatous slack skin (GSS) is a variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by the presence of circumscribed areas of pendulous lax skin.	NCIT:C35464|SNOMEDCT:277796003|UMLS:C0457002|UMLS:C0376407|ORPHA:33111
MONDO:0021683	obsolete transmissible disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021683	OBSOLETE A disease that can be transmitted from one organism to another, typically but not always by an infectious process.	
MONDO:0018030	tetrasomy 9p	biolink:Disease	mondo	ICD10:Q99.8|MESH:C538027|Orphanet:3310|SCTID:715530004|UMLS:C0795832|GARD:0000042	ordo_malformation_syndrome|gard_rare	Mosaic tetrasomy 9p|tetrasomy type 9p|tetrasomy of short arm of chromosome 9|Isochromosome 9p|chromosome 9p tetrasomy	http://purl.obolibrary.org/obo/MONDO_0018030	Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism).	UMLS:C0795832|SNOMEDCT:715530004|ORPHA:3310|MESH:C538027
MONDO:0021684	obsolete infectious disease of central nervous system	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021684		
MONDO:0006068	ACTH-producing pituitary gland adenoma	biolink:Disease	mondo	NCIT:C7462|EFO:1000066		adrenocorticotropin producing adenoma of the pituitary|adrenocorticotropin secreting pituitary gland adenoma|ACTH-producing pituitary gland adenoma|adrenocorticotropin producing adenoma of pituitary|adrenocorticotropin secreting adenoma of the pituitary gland|ACTH-producing pituitary adenoma|adrenocorticotropin secreting pituitary adenoma|ACTH producing pituitary gland adenoma|pituitary ACTH-secreting adenoma|adrenocorticotropin secreting adenoma of pituitary gland|adrenocorticotropin secreting adenoma of the pituitary|adrenocorticotropin producing pituitary gland adenoma|pituitary gland ACTH-secreting adenoma|ACTHoma|adrenocorticotropin secreting adenoma of pituitary|ACTH secreting adenoma of the pituitary|pituitary ACTH secreting adenoma|ACTH-secreting adenoma of the pituitary gland|ACTH secreting adenoma of pituitary|adrenocorticotropin producing pituitary adenoma|ACTH-secreting adenoma of pituitary gland|ACTH-secreting adenoma of the pituitary|corticotropin secreting pituitary gland adenoma|corticotroph adenoma|Corticotropinoma|ACTH-secreting adenoma of pituitary|corticotropic adenoma|corticotropin secreting adenoma of the pituitary|pituitary corticotropin secreting adenoma|adrenocorticotropin producing adenoma of the pituitary gland|adrenocorticotropin producing adenoma of pituitary gland	http://purl.obolibrary.org/obo/MONDO_0006068	An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion.	NCIT:C7462
MONDO:0006069	ACTH-producing pituitary gland carcinoma	biolink:Disease	mondo	NCIT:C5964|UMLS:C1334556|EFO:1000067|DOID:6276		malignant ACTH producing neoplasm of pituitary gland|malignant adrenocorticotropin producing tumor of pituitary gland|malignant ACTH secreting neoplasm of the pituitary|malignant adrenocorticotropin secreting pituitary gland neoplasm|malignant ACTH secreting pituitary gland tumor|malignant ACTH secreting neoplasm of pituitary|malignant adrenocorticotropin producing tumor of the pituitary|malignant adrenocorticotropin producing tumor of pituitary|malignant ACTH secreting pituitary neoplasm|malignant ACTH secreting pituitary tumor|malignant ACTH producing neoplasm of the pituitary gland|malignant ACTH producing tumor of the pituitary gland|malignant Corticotropinoma of the pituitary|malignant adrenocorticotropin secreting pituitary gland tumor|malignant ACTH producing tumor of pituitary gland|malignant ACTH producing tumor of the pituitary|malignant ACTH producing pituitary gland tumor|malignant ACTH producing neoplasm of the pituitary|malignant ACTH producing tumor of pituitary|ACTH producing pituitary gland carcinoma|malignant adrenocorticotropin secreting pituitary tumor|malignant ACTH producing neoplasm of pituitary|malignant corticotropin secreting pituitary gland neoplasm|malignant pituitary Corticotropinoma|malignant ACTH producing pituitary tumor|malignant adrenocorticotropin producing neoplasm of the pituitary gland|malignant adrenocorticotropin producing neoplasm of pituitary gland|malignant ACTH secreting tumor of the pituitary gland|malignant adrenocorticotropin producing pituitary gland tumor|malignant pituitary gland Corticotropinoma|malignant ACTH secreting tumor of pituitary gland|malignant adrenocorticotropin producing pituitary neoplasm|malignant Corticotropinoma of the pituitary gland|malignant adrenocorticotropin producing neoplasm of the pituitary|malignant ACTH secreting tumor of the pituitary|malignant adrenocorticotropin producing neoplasm of pituitary|malignant Corticotropinoma of pituitary gland|malignant adrenocorticotropin producing pituitary gland neoplasm|malignant ACTH secreting tumor of pituitary|malignant adrenocorticotropin producing pituitary tumor|malignant Corticotropinoma of pituitary|malignant ACTH producing pituitary neoplasm|malignant ACTH secreting neoplasm of the pituitary gland|malignant adrenocorticotropin secreting pituitary neoplasm|malignant ACTH producing pituitary gland neoplasm|malignant adrenocorticotropin producing tumor of the pituitary gland|malignant ACTH secreting neoplasm of pituitary gland	http://purl.obolibrary.org/obo/MONDO_0006069	A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease.	DOID:6276|NCIT:C5964|UMLS:C1334556
MONDO:0006066	acinar prostate adenocarcinoma, foamy gland variant	biolink:Disease	mondo	NCIT:C39882|EFO:1000064|UMLS:C1515863			http://purl.obolibrary.org/obo/MONDO_0006066	A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm.	UMLS:C1515863|NCIT:C39882
MONDO:0006067	acinar prostate mucinous adenocarcinoma	biolink:Disease	mondo	EFO:1000065|NCIT:C5537|DOID:3703|UMLS:C1335513		mucinous adenocarcinoma of prostate|mucinous adenocarcinoma of the prostate|colloid adenocarcinoma of prostate|colloid adenocarcinoma of the prostate|prostate colloid adenocarcinoma|acinar colloid prostate adenocarcinoma|colloidal prostate adenocarcinoma|colloidal adenocarcinoma of prostate|colloidal adenocarcinoma of the prostate	http://purl.obolibrary.org/obo/MONDO_0006067	A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin.	DOID:3703|NCIT:C5537|UMLS:C1335513
MONDO:0006064	obsolete lactose intolerance	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006064		
MONDO:0021680	streptococcal infection	biolink:Disease	mondo	ICD9:041.00|MESH:D013290|UMLS:C0038395|EFO:1001476|ICD9:041.09|SCTID:85769006|NCIT:C87062		Streptococcus disease or disorder|infections, streptococcal|streptococcal infection|infection, streptococcal|Streptococcus infectious disease|Streptococcus caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0021680	Any of the several infectious disorders caused by members of streptococcus, a genus of gram positive bacteria belonging to the family Streptococcaceae. Streptococcal infections are classified into Groups A, B, C, D and G.	MESH:D013290|UMLS:C0038395|SNOMEDCT:85769006|NCIT:C87062
MONDO:0006065	lactose intolerance adult type	biolink:Disease	mondo	EFO:1000063			http://purl.obolibrary.org/obo/MONDO_0006065	Adult onset lactose intolerance	
MONDO:0006062		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006062		
MONDO:0006063	obsolete carbohydrate metabolic disorder	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006063		
GO:0043549	regulation of kinase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0043549	Any process that modulates the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule.	
MONDO:0006060	nasopharyngeal squamous cell carcinoma	biolink:Disease	mondo	EFO:1000058			http://purl.obolibrary.org/obo/MONDO_0006060	A squamous cell carcinoma that arises from the nasopharynx.	
MONDO:0006061	cervical artery dissection	biolink:Disease	mondo	EFO:1000059			http://purl.obolibrary.org/obo/MONDO_0006061	A tear within the wall of any of the arteries of the neck (carotid artery or vertebral artery) and that allows blood to separate the wall layers. By separating a portion of the wall of the artery (a layer of the Tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the "false lumen" created by the new space within the wall of the artery.	
MONDO:0021678	gram-negative bacterial infections	biolink:Disease	mondo	MESH:D016905|ICD9:041.85|SCTID:371583007		gram-negative bacterial infection|bacterial infections, gram negative|infections, gram negative bacterial|bacterial infections, gram-negative|infections, gram-negative bacterial|bacterial infection, gram-negative|infection, gram-negative bacterial|gram negative bacterial infections	http://purl.obolibrary.org/obo/MONDO_0021678	Infections caused by bacteria that show up as pink (negative) when treated by the gram-staining method.	SNOMEDCT:371583007|MESH:D016905
MONDO:0018037	hyper-IgE syndrome	biolink:Disease	mondo	OMIMPS:147060|ICD10:D82.4|DOID:0080545|UMLS:CN204280|NCIT:C3144|Orphanet:331223|GARD:0010956	gard_rare|ordo_group_of_disorders	HIES|hyperimmunoglobulin E syndrome|hyper-IgE recurrent infection syndrome	http://purl.obolibrary.org/obo/MONDO_0018037	A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections.	DOID:0080545|ORPHA:331223|UMLS:CN204280|NCIT:C3144
MONDO:0021679	gram-positive bacterial infections	biolink:Disease	mondo	SCTID:371582002|MESH:D016908|ICD9:041.89		Gram Positive bacterial infections|infections, Gram Positive bacterial|bacterial infections, Gram Positive|infections, Gram-positive bacterial|bacterial infections, Gram-positive|bacterial infection, Gram-positive|infection, Gram-positive bacterial|Gram-positive bacterial infection	http://purl.obolibrary.org/obo/MONDO_0021679	Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method.	SNOMEDCT:371582002|MESH:D016908
MONDO:0018036	immunodeficiency due to absence of thymus	biolink:Disease	mondo	Orphanet:331220|ICD10:D81.4	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018036		ORPHA:331220
MONDO:0018039	selective IgM deficiency	biolink:Disease	mondo	ICD9:279.02|SCTID:190980000|GARD:0012547|Orphanet:331235|ICD10:D80.4|DOID:0050222|COHD:434893	ordo_disease|gard_rare	selective immunoglobulin M deficiency|selective IgM deficiency disease|SIgMD	http://purl.obolibrary.org/obo/MONDO_0018039	Selective IgM deficiency (SIgMD) is a rare immune disorder that has been reported in association with serious infections, such as bacteria in the blood (bacteremia, also known as septicemia). Although SIgMD was first described in two children, the disorder can occur in babies, children, and adults. It is characterized by isolated absence or deficiency of immunoglobulin M (IgM), normal levels of other immunoglobulins, and recurrent infections (especially by Staphylococcus aureus, Streptococcus pneumoniae, Hemophilus influenza). The cause is still unclear. The diagnosis includes isolated deficiency ofIgM in the blood and no other immunodeficiency or secondary cause of low IgM. Patients with SIgMD and recurrent infections are managed like other antibody defects and deficiencies. It is suggested that people with SIgMD have pneumococcal and meningococcal vaccines, people with SIgMD who have recurrent infections should have prophylactic antibiotics and immune globulin replacement.	SNOMEDCT:190980000|DOID:0050222|ORPHA:331235
HGNC:18324	HSD3B7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18324		
MONDO:0018038	obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells	biolink:Disease	mondo	Orphanet:331232	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018038		ORPHA:331232
MONDO:0018033	other immunodeficiency syndromes due to defects in innate immunity	biolink:Disease	mondo	UMLS:CN204276|Orphanet:331193	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0018033		ORPHA:331193|UMLS:CN204276
MONDO:0018032	obsolete constitutional neutropenia with extra-hematopoietic manifestations	biolink:Disease	mondo	Orphanet:331184	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018032		ORPHA:331184
MONDO:0018035	syndrome with combined immunodeficiency	biolink:Disease	mondo	Orphanet:331217|UMLS:CN204279	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018035		ORPHA:331217|UMLS:CN204279
MONDO:0018034	thalidomide embryopathy	biolink:Disease	mondo	GARD:0002313|UMLS:C0432365|SCTID:36193003|MedDRA:10071249|ICD10:Q86.8|Orphanet:3312|NCIT:C99082|ICD9:759.89	ordo_disease	thalidomide-induced birth defect|fetal thalidomide syndrome|thalidomide embryopathy syndrome	http://purl.obolibrary.org/obo/MONDO_0018034	A group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment.	SNOMEDCT:36193003|NCIT:C99082|UMLS:C0432365|MEDDRA:10071249|ORPHA:3312
MONDO:0021670	post-infectious syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021670		
MONDO:0033619	myopathy, epilepsy, and progressive cerebral atrophy	biolink:Disease	mondo	OMIM:619036		MEPCA	http://purl.obolibrary.org/obo/MONDO_0033619		http://identifiers.org/omim/619036
MONDO:0018020	mercury poisoning	biolink:Disease	mondo	EFO:1001810|GARD:0007021|ICD9:985.0|MESH:D008630|Orphanet:330021|SCTID:85180002|ICD10:T56.1	gard_rare|ordo_disease	mercurialism|Mercury intoxication|hydrargyria|Mercury toxicity	http://purl.obolibrary.org/obo/MONDO_0018020	Mercury poisoning is caused mainly through ingestion or inhalation of any of the 3 forms of mercury, elemental, organic, and inorganic. Exposure to elemental mercury affects the pulmonary (inhalation of mercury vapors causes coughing, chills, fever, shortness of breath), dermatological (mild swelling, vesiculation, scaling, irritation, urticaria, erythema and allergic contact dermatitis accompanied by pain), and peripheral and central nervous (CNS) systems (depression, paranoia, extreme irritability, hallucinations, inability to concentrate, memory loss, hands, head, lips, tongue, jaw and eyelids tremors, weight loss, perpetually low body temperature, drowsiness, headaches, insomnia, fatigue). Exposure to inorganic mercury generally causes development of a metallic taste, local oropharyngeal pain, nausea, vomiting, bloody diarrhea, colic abdominal pain, renal dysfunction and, neurologic abnormalities; while that to organic mercury can lead to delayed neurotoxicity.	MESH:D008630|ORPHA:330021|SNOMEDCT:85180002
MONDO:0033618	Vissers-Bodmer syndrome	biolink:Disease	mondo	OMIM:619033		VIBOS	http://purl.obolibrary.org/obo/MONDO_0033618		http://identifiers.org/omim/619033
MONDO:0021673	post-bacterial disorder	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021673		
MONDO:0021674	post-viral disorder	biolink:Disease	mondo	SCTID:123948009|ICD9:139.8			http://purl.obolibrary.org/obo/MONDO_0021674		SNOMEDCT:123948009
MONDO:0033615	coenzyme q10 deficiency, primary, 9	biolink:Disease	mondo	OMIM:619028		COQ10D9	http://purl.obolibrary.org/obo/MONDO_0033615		http://identifiers.org/omim/619028
MONDO:0006039	infectious colitis	biolink:Disease	mondo	UMLS:C0277524|SCTID:39341005|EFO:1000035|NCIT:C78359		infectious colitis	http://purl.obolibrary.org/obo/MONDO_0006039	A viral or bacterial infectious process affecting the large intestine.	NCIT:C78359|SNOMEDCT:39341005|UMLS:C0277524
MONDO:0033614	spastic paraplegia 83, autosomal recessive	biolink:Disease	mondo	OMIM:619027		SPG83	http://purl.obolibrary.org/obo/MONDO_0033614		http://identifiers.org/omim/619027
MONDO:0033613	neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	biolink:Disease	mondo	OMIM:619026		NEDSWMA	http://purl.obolibrary.org/obo/MONDO_0033613		http://identifiers.org/omim/619026
MONDO:0021677	post-infectious neuralgia	biolink:Disease	mondo	SCTID:17111003|UMLS:C0032772|ICD9:729.2		postinfectious neuralgia	http://purl.obolibrary.org/obo/MONDO_0021677		SNOMEDCT:17111003|UMLS:C0032772
MONDO:0006037	hydrolethalus syndrome	biolink:Disease	mondo	DOID:0050779|UMLS:C2931104|Orphanet:2189|GARD:0006683|SCTID:721232000|MESH:C536079|EFO:1000033|ICD10:Q87.8|OMIMPS:236680	gard_rare|ordo_malformation_syndrome	Salonen-Herva-Norio syndrome|hydrolethalus|HLS	http://purl.obolibrary.org/obo/MONDO_0006037	Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.	SNOMEDCT:721232000|ORPHA:2189|MESH:C536079|DOID:0050779|UMLS:C2931104
MONDO:0006038	indeterminate colitis	biolink:Disease	mondo	SCTID:235746007|ICD10:K52.3|ICD9:558.9|NCIT:C27110|UMLS:C0341332|EFO:1000034		colitis of indeterminate type	http://purl.obolibrary.org/obo/MONDO_0006038	It describes patients in whom a diagnosis of ulcerative colitis or Crohn's disease cannot be made based on standard clinical testing, including colonoscopy, imaging, laboratory tests, and biopsy.	SNOMEDCT:235746007|NCIT:C27110|UMLS:C0341332
MONDO:0008699	achalasia microcephaly syndrome	biolink:Disease	mondo	OMIM:200450|SCTID:718573009|UMLS:C1860212|Orphanet:929|GARD:0000456|DOID:0050796|MESH:C536010|ICD10:Q39.5	ordo_malformation_syndrome|gard_rare	achalasia microcephaly|achalasia-microcephaly syndrome	http://purl.obolibrary.org/obo/MONDO_0008699	Achalasia-microcephaly is an extremely rare genetic syndrome, reported in a few families to date, characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. An autosomal recessive inheritance has been proposed.	UMLS:C1860212|MESH:C536010|DOID:0050796|ORPHA:929|SNOMEDCT:718573009|http://identifiers.org/omim/200450
MONDO:0008698	achalasia (disease)	biolink:Disease	mondo	HP:0002571|UMLS:C0014848|DOID:9164|ICD10:K22.0|ICD9:530.0|COHD:318186|OMIM:200400|UMLS:C2939435|UMLS:C1321756|SCTID:235630008		achalasia, familial esophageal|cardiospasm|achalasia|achalasia of cardia|achalasia of esophagus|hypertensive lower esophageal sphincter|lack of reflex relaxation of lower oesophageal sphincter|esophageal achalasia	http://purl.obolibrary.org/obo/MONDO_0008698	A finding indicating the lack of adequate relaxation of the lower esophageal sphincter resulting in difficulty swallowing food.	NCIT:C84699|UMLS:C1321756|UMLS:C0014848|SNOMEDCT:235630008|http://identifiers.org/omim/200400|DOID:9164|UMLS:C2939435
MONDO:0006035	gastric tubular adenocarcinoma	biolink:Disease	mondo	NCIT:C5473|ONCOTREE:TSTAD|UMLS:C1333791|EFO:1000030|DOID:6595		tubular stomach adenocarcinoma|tubular adenocarcinoma of stomach|stomach tubular adenocarcinoma|gastric tubular adenocarcinoma|tubular adenocarcinoma of the stomach	http://purl.obolibrary.org/obo/MONDO_0006035	A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules.	UMLS:C1333791|DOID:6595|NCIT:C5473
MONDO:0006036	granulosa cell tumor	biolink:Disease	mondo	ONCOTREE:GRCT|NCIT:C3070|MESH:D006106|UMLS:C0018206|EFO:1000032|DOID:2999		neoplasm of granulosa cell|granulosa cell tumor, adult type (morphologic abnormality)|granulosa cell tumour, sarcomatoid|granulosa cell tumor, undetermined|granulosa cell tumor|tumor of granulosa cell|granulosa cell tumor, adult type|GRCT|malignant granulosa cell neoplasm|granulosa cell neoplasm (disease)|granulosa cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0006036	A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumor that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms.	NCIT:C3070|MESH:D006106|UMLS:C0018206|DOID:2999
NCBITaxon:43755	Oestroidea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_43755		
MONDO:0008697	obsolete acetophenetidin sensitivity	biolink:Disease	mondo	OMIM:200300		Acetophenetidin sensitivity	http://purl.obolibrary.org/obo/MONDO_0008697		http://identifiers.org/omim/200300
MONDO:0006033	diffuse intrinsic pontine glioma	biolink:Disease	mondo	ONCOTREE:DIPG|NCIT:C94764|EFO:1000026|UMLS:C2986658|Orphanet:497188|GARD:0013075	ordo_disease|gard_rare	DIPG|infiltrative brainstem glioma	http://purl.obolibrary.org/obo/MONDO_0006033	A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis.	ORPHA:497188|NCIT:C94764|UMLS:C2986658
MONDO:0008696	acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome	biolink:Disease	mondo	Orphanet:90301|UMLS:C1860215|GARD:0000453|OMIM:200170|MESH:C536000	ordo_disease	familial insulin resistance with acanthosis nigricans, acral hypertrophy and muscle cramps|acanthosis nigricans with muscle cramps and acral enlargement|acanthosis nigricans muscle cramps acral enlargement	http://purl.obolibrary.org/obo/MONDO_0008696	This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy.	ORPHA:90301|MESH:C536000|UMLS:C1860215|http://identifiers.org/omim/200170
MONDO:0006034	gastric adenosquamous carcinoma	biolink:Disease	mondo	EFO:1000029|NCIT:C5474|ONCOTREE:STAS|DOID:5635|UMLS:C1333761		stomach adenosquamous carcinoma|gastric (stomach) adenosquamous cancer|adenosquamous carcinoma of the stomach|adenosquamous carcinoma of stomach|STAS|gastric adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0006034	A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation.	UMLS:C1333761|DOID:5635|NCIT:C5474
MONDO:0008695	chorea-acanthocytosis	biolink:Disease	mondo	ICD9:333.0|DOID:0050766|GARD:0003956|Orphanet:2388|SCTID:66881004|ICD10:E78.6|OMIM:200150	ordo_disease	neuroacanthocytosis|choreo-acanthocytosis|chorea-acanthocytosis|chorea acanthocytosis|acanthocytosis with neurologic disorder|Chac|choreoacanthocytosis|Levine-Critchley syndrome|choreaacanthocytosis|CHOREOACANTHOCYTOSIS; Chac|choreoacanthocytosis	http://purl.obolibrary.org/obo/MONDO_0008695	Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.	ORPHA:2388|DOID:0050766|http://identifiers.org/omim/200150|SNOMEDCT:66881004|UMLS:C0393576
MONDO:0006031	chronic rhinosinusitis	biolink:Disease	mondo	UMLS:C0149516|EFO:1000024|PMID:25838086|SCTID:40055000|ICD9:473.9|NCIT:C35151|ICD9:473.8		chronic sinusitis|sinusitis, chronic	http://purl.obolibrary.org/obo/MONDO_0006031	Chronic form of sinusitis.	NCIT:C35151|SNOMEDCT:40055000|UMLS:C0149516
NCBITaxon:43750	Sciomyzoidea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_43750		
MONDO:0008694	pseudoprogeria syndrome	biolink:Disease	mondo	GARD:0000415|OMIM:200130|MESH:C563111|UMLS:C0796125|Orphanet:2985|SCTID:733086003|ICD10:Q87.8	gard_rare|ordo_malformation_syndrome	absent eyebrows and eyelashes with mental retardation|pseudoprogeria syndrome|Hal-Berg-Rudolph syndrome|absent eyebrows and eyelashes-intellectual disability syndrome|intellectual disability, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose|absent eyebrows and eyelashes with intellectual disability|mental retardation, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose|eyebrows and eyelashes absence-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0008694	Pseudoprogeria is characterised by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers.	ORPHA:2985|http://identifiers.org/omim/200130|MESH:C563111|SNOMEDCT:733086003|UMLS:C0796125
MONDO:0008693	ablepharon macrostomia syndrome	biolink:Disease	mondo	MESH:C535557|GARD:0000003|SCTID:718575002|DOID:0060550|Orphanet:920|OMIM:200110|UMLS:C1860224|ICD10:Q87.0	gard_rare|ordo_malformation_syndrome	poikiloderma with neutropenia, Clericuzio type|ablepharon-macrostomia syndrome; AMS|congenital ablepharon, absent eyelashes/eyebrows, macrostomia, auricular, nasal, genital and other systemic anomalies|AMS|ablepharon-macrostomia syndrome	http://purl.obolibrary.org/obo/MONDO_0008693	Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome.	UMLS:C1860224|SNOMEDCT:718575002|ORPHA:920|http://identifiers.org/omim/200110|MESH:C535557|DOID:0060550
MONDO:0006032	cystitis	biolink:Disease	mondo	COHD:195588|ICD9:595.89|EFO:1000025|ICD10:N30|NCIT:C26738|DOID:1679|ICD10:N30.9|SCTID:38822007|ICD9:595.9|ICD9:595|UMLS:C0010692|MESH:D003556		urinary bladder inflammation|inflammation of urinary bladder|bladder infection	http://purl.obolibrary.org/obo/MONDO_0006032	Inflammation of the urinary bladder.	MESH:D003556|SNOMEDCT:38822007|UMLS:C0010692|DOID:1679|NCIT:C26738
MONDO:0008692	abetalipoproteinemia	biolink:Disease	mondo	NCIT:C84525|DOID:1386|UMLS:C0000744|SCTID:190787008|GARD:0000005|ICD10:E78.6|Orphanet:14|MESH:D000012|OMIM:200100	ordo_disease	Betalipoprotein deficiency disease|homozygous familial hypobetalipoproteinemia|microsomal triglyceride transfer protein deficiency disease|ABL|microsomal triglyceride transfer Protein deficiency|abetalipoproteinemia|congenital betalipoprotein deficiency syndrome|abetalipoproteinemia neuropathy|Bassen Kornzweig syndrome|Bassen-Kornzweig disease|familial hypobetalipoproteinemia|abetalipoproteinemia; ABL|acanthocytosis|MTP deficiency|apolipoprotein B deficiency|Bassen-Kornzweig syndrome	http://purl.obolibrary.org/obo/MONDO_0008692	Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.	MESH:D000012|SNOMEDCT:190787008|UMLS:C0000744|http://identifiers.org/omim/200100|DOID:1386|ORPHA:14|NCIT:C84525
MONDO:0006030	chronic cystitis	biolink:Disease	mondo	ICD9:595.2|DOID:1680|EFO:1000023|ICD10:N30.2|COHD:201621|UMLS:C0221763|NCIT:C27008|SCTID:33655002		cystitis, chronic	http://purl.obolibrary.org/obo/MONDO_0006030	Recurrent infections of the urinary bladder.	NCIT:C27008|SNOMEDCT:33655002|UMLS:C0221763|DOID:1680
MONDO:0008691	zinc, elevated plasma	biolink:Disease	mondo	OMIM:194470		hyperzincemia and hypercalprotectinemia|zinc, elevated plasma|hyperzincemia, familial Dysalbuminemic|albumin binding of zinc, elevated	http://purl.obolibrary.org/obo/MONDO_0008691		http://identifiers.org/omim/194470
MONDO:0008690	xeroderma pigmentosum, autosomal dominant, mild	biolink:Disease	mondo	UMLS:C1860231|OMIM:194400|MESH:C565989		xeroderma pigmentosum, autosomal dominant, mild	http://purl.obolibrary.org/obo/MONDO_0008690		UMLS:C1860231|http://identifiers.org/omim/194400|MESH:C565989
MONDO:0018029	congenital factor XIII deficiency	biolink:Disease	mondo	GARD:0010766|Orphanet:331|SCTID:50189006|ICD9:286.3|ICD10:D68.2|MESH:D005177|DOID:2211|NCIT:C131633	ordo_disease	hereditary factor XIII deficiency disease|factor XIII deficiency disease|fibrin stabilizing factor deficiency|factor XIII deficiency|deficiency, Laki-Lorand factor|fibrin-stabilizing factor deficiency	http://purl.obolibrary.org/obo/MONDO_0018029	Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies.	ORPHA:331|SNOMEDCT:50189006|DOID:2211|NCIT:C131633|MESH:D005177
MONDO:0018026	tetraploidy syndrome	biolink:Disease	mondo	MESH:D057891|GARD:0005151|ICD10:Q92.7|UMLS:C0795884|Orphanet:3305|SCTID:726363000	ordo_malformation_syndrome|gard_rare	tetraploidy	http://purl.obolibrary.org/obo/MONDO_0018026	The presence of four sets of chromosomes. It is associated with abnormalities, multiple; and miscarrages.	ORPHA:3305|UMLS:C0333694|MESH:D057891|UMLS:C0795884|SNOMEDCT:726363000
MONDO:0021667	neuralgia	biolink:Disease	mondo	ICD9:729.2|MESH:D009437|SCTID:16269008		paroxysmal nerve pains|neuralgia|paroxysmal nerve pain|pain, neuropathic|pain, nerve	http://purl.obolibrary.org/obo/MONDO_0021667	A pain disorder characterize by pain in the distribution of a nerve or nerves	MESH:D009437|SNOMEDCT:16269008
MONDO:0018025	chronic actinic dermatitis	biolink:Disease	mondo	UMLS:C1510437|ICD10:L57.8|ICD9:692.73|Orphanet:330064|SCTID:52636001	ordo_disease	chronic photosensitivity dermatitis|actinic reticuloid	http://purl.obolibrary.org/obo/MONDO_0018025		SNOMEDCT:52636001|ORPHA:330064|UMLS:C1510437
MONDO:0021668	disorder involving pain	biolink:Disease	mondo	SCTID:373673007|DOID:0060164|UMLS:C1300028		pain disorder	http://purl.obolibrary.org/obo/MONDO_0021668		UMLS:C1300028|DOID:0060164|MESH:D010146|SNOMEDCT:373673007
MONDO:0033622	spermatogenic failure 44	biolink:Disease	mondo	OMIM:619044		SPGF44	http://purl.obolibrary.org/obo/MONDO_0033622		http://identifiers.org/omim/619044
MONDO:0021669	post-infectious disorder	biolink:Disease	mondo	ICD9:139.8|SCTID:123976001			http://purl.obolibrary.org/obo/MONDO_0021669		SNOMEDCT:123976001
MONDO:0018028	tetrasomy 5p	biolink:Disease	mondo	ICD10:Q99.8|Orphanet:3309|SCTID:766755003	ordo_malformation_syndrome	tetrasomy type 5p|Isochromosome 5p	http://purl.obolibrary.org/obo/MONDO_0018028	Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia).	ORPHA:3309|SNOMEDCT:766755003
MONDO:0033621	spinal muscular atrophy, infantile, James type	biolink:Disease	mondo	OMIM:619042		SMAJI	http://purl.obolibrary.org/obo/MONDO_0033621		http://identifiers.org/omim/619042
MONDO:0018027	duplication/inversion 15q11	biolink:Disease	mondo	GARD:0005153|Orphanet:3306|SCTID:723332005|MESH:C580205|ICD10:Q99.8	ordo_malformation_syndrome|gard_rare	tetrasomy 15q|Isodicentric 15 chromosome|Duplication/inversion type 15q11|non-distal tetrasomy 15q|Inv dup(15)|non-telomeric tetrasomy 15q|duplication/inversion 15q11|Invdup(15)|inverted duplication 15|chromosome 15q tetrasomy|Isodicentric chromosome 15 syndrome|idic(15)	http://purl.obolibrary.org/obo/MONDO_0018027	Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end. Although the severity of the condition and the associated features vary from person to person, common signs and symptoms include poor muscle tone in newborns; developmental delay; mild to severe intellectual disability; delayed or absent speech; behavioral abnormalities; and seizures. Most cases of isodicentric chromosome 15 syndrome occur sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.	ORPHA:3306|MESH:C580205|SNOMEDCT:723332005
MONDO:0033620	myofibrillar myopathy 10	biolink:Disease	mondo	OMIM:619040		MFM10	http://purl.obolibrary.org/obo/MONDO_0033620		http://identifiers.org/omim/619040
MONDO:0018022	hemoglobin Lepore-beta-thalassemia syndrome	biolink:Disease	mondo	ICD10:D56.8|Orphanet:330032|UMLS:CN227251	ordo_disease	HbLepore-beta-thalassemia syndrome|Lepore-beta-thalassemia syndrome	http://purl.obolibrary.org/obo/MONDO_0018022		UMLS:CN227251|ORPHA:330032
MONDO:0018021	hypotrichosis-deafness syndrome	biolink:Disease	mondo	Orphanet:330029|ICD10:H90.5|UMLS:CN204237	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018021		ORPHA:330029|UMLS:CN204237
MONDO:0018024	hydroa vacciniforme	biolink:Disease	mondo	MESH:D006837|UMLS:C0020241|ICD10:L56.4|Orphanet:330058|NCIT:C84766|SCTID:200837006|GARD:0009654	ordo_disease|gard_rare	hV	http://purl.obolibrary.org/obo/MONDO_0018024	A rare skin disorder of unknown etiology affecting children. It is a photodermatitis, characterized by the formation of vesicles and scarring on sun exposed areas.	NCIT:C84766|SNOMEDCT:200837006|ORPHA:330058|MESH:D006837|UMLS:C0020241
MONDO:0018023	hemoglobin M disease	biolink:Disease	mondo	GARD:0013007|UMLS:CN204238|ICD10:D74.0|Orphanet:330041|SCTID:74912001|OMIM:617971|MESH:C581942|UMLS:C3665425	ordo_disease	M hemoglobinopathy|methemoglobinemia, beta-globin type|autosomal dominant methemoglobinemia|blue baby syndrome|hereditary methemoglobinemia due to hemoglobin mutation	http://purl.obolibrary.org/obo/MONDO_0018023		UMLS:C3665425|SNOMEDCT:74912001|ORPHA:330041|MESH:C581942|http://identifiers.org/omim/617971|UMLS:CN204238
MONDO:0021660	deep seated dermatophytosis	biolink:Disease	mondo	NCIT:C35073|UMLS:C1395264		deep seated dermatophytosis	http://purl.obolibrary.org/obo/MONDO_0021660	A deep folliculitis due to a cutaneous dermatophyte infection, usually on the legs. It is most commonly caused by trichophyton rubrum and is characterized by the formation of spongy granulomas which persist for three to four months and leaves deep scars.	UMLS:C1395264|NCIT:C35073
MONDO:0021661	coronary atherosclerosis	biolink:Disease	mondo	SCTID:443502000|NCIT:C35505|ICD9:414.00		coronary atherosclerosis|arteriosclerosis disorder of coronary artery|atherosclerosis of coronary artery|coronary artery arteriosclerosis disorder|coronary artery arteriosclerosis (disease)	http://purl.obolibrary.org/obo/MONDO_0021661	Atherosclerosis of the coronary vasculature.	NCIT:C35505|SNOMEDCT:443502000
MONDO:0021662	bile duct neoplasm	biolink:Disease	mondo	UMLS:C0005396|NCIT:C2898		bile duct neoplasm (disease)|bile duct tumor|intrahepatic and extrahepatic bile duct tumor|tumor of bile duct|bile duct neoplasm|neoplasm of bile duct|intrahepatic and extrahepatic bile duct neoplasm	http://purl.obolibrary.org/obo/MONDO_0021662	A benign or malignant neoplasm that affects the intrahepatic or extrahepatic bile ducts. Representative examples of benign neoplasms include bile duct adenoma and extrahepatic bile duct lipoma. Representative examples of malignant neoplasms include intrahepatic and extrahepatic cholangiocarcinoma.	UMLS:C0005396|NCIT:C2898
MONDO:0021663	sarcomatoid squamous cell carcinoma	biolink:Disease	mondo	SCTID:403900000|NCIT:C27084|ICD9:199.1|ICDO:8074/3		epidermoid spindle cell carcinoma|spindle cell (sarcomatoid) squamous cell carcinoma|squamous cell carcinoma, spindle cell|sarcomatoid squamous cell carcinoma|squamous cell carcinoma, sarcomatoid|squamous cell spindle cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0021663	A poorly differentiated squamous cell carcinoma characterized by the presence of malignant cells with spindle cell features.	NCIT:C27084|SNOMEDCT:403900000
MONDO:0021664	cervical aortic arch	biolink:Disease	mondo	ICD10:Q25.4|Orphanet:99079		aortic arch syndrome	http://purl.obolibrary.org/obo/MONDO_0021664		UMLS:C0345065|ORPHA:99079
MONDO:0021665	obsolete Refsum disease	biolink:Disease	mondo	NCIT:C85043		Refsum disease	http://purl.obolibrary.org/obo/MONDO_0021665	A rare autosomal recessive condition caused by mutation(s) in the PHYH gene, encoding phytanoyl-CoA dioxygenase, peroxisomal. It is characterized by abnormalities in the breakdown of phytanic acid and impaired growth of myelin sheaths. Signs and symptoms include neurologic damage, cerebellar degeneration, and neuropathy.	
MONDO:0021666	ear infection	biolink:Disease	mondo	MESH:D010031|NCIT:C27193|UMLS:C0699744		otitis|Ear infection	http://purl.obolibrary.org/obo/MONDO_0021666	A viral or bacterial infection that affects the external, middle, or inner ear. It may follow an upper respiratory infection. Signs and symptoms include pain, ear discharge, ear fullness, hearing loss, vertigo, nausea, and vomiting.	UMLS:C0699744|MESH:D010031|NCIT:C27193
NCBITaxon:43741	Acalyptratae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_43741		
MONDO:0006048	obsolete pancreatic neuroendocrine tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006048		
MONDO:0006049	papillary lung adenocarcinoma	biolink:Disease	mondo	ICD9:162.9|DOID:5588|NCIT:C5650|EFO:1000046|SCTID:707411007|UMLS:C1335325		papillary adenocarcinoma of lung|lung papillary-adenocarcinoma|papillary lung adenocarcinoma|papillary adenocarcinoma of the lung|lung papillary adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006049	A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures.	UMLS:C1335325|SNOMEDCT:707411007|DOID:5588|NCIT:C5650
NCBITaxon:43742	Calyptratae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_43742		
MONDO:0006046	ovarian serous cystadenocarcinoma	biolink:Disease	mondo	DOID:5746|EFO:1000043|UMLS:C0279663|NCIT:C7978		serous cystadenoma|ovarian serous cystadenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006046	A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features.	UMLS:C0279663|DOID:5746|NCIT:C7978
MONDO:0006047	pancreatic adenocarcinoma	biolink:Disease	mondo	NCIT:C8294|SCTID:700423003|UMLS:C0281361|EFO:1000044|ONCOTREE:PAAD|DOID:4074		adenocarcinoma - pancreas|adenocarcinoma of pancreas|PAAD|pancreas adenocarcinoma|pancreatic adenocarcinoma|adenocarcinoma of the pancreas	http://purl.obolibrary.org/obo/MONDO_0006047	A carcinoma that arises from glandular epithelial cells of the pancreas	DOID:4074|UMLS:C0281361|NCIT:C8294|SNOMEDCT:700423003
GO:0043565	sequence-specific DNA binding	biolink:OntologyClass	mondo			sequence specific DNA binding	http://purl.obolibrary.org/obo/GO_0043565	Interacting selectively and non-covalently with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding.	
MONDO:0006044	nephrosclerosis	biolink:Disease	mondo	UMLS:C0027719|MESH:D009400|SCTID:32916005|ICD10:N26.9|EFO:1000041|ICD10:I12|DOID:11664|ICD9:587|GARD:0007179	gard_rare	renal sclerosis	http://purl.obolibrary.org/obo/MONDO_0006044	Hardening of the kidney due to infiltration by fibrous connective tissue (fibrosis), usually caused by renovascular diseases or chronic hypertension. Nephrosclerosis leads to renal ischemia.	UMLS:C0027719|MESH:D009400|SNOMEDCT:32916005|DOID:11664
MONDO:0006045	ovarian clear cell adenocarcinoma	biolink:Disease	mondo	DOID:5304|UMLS:C1518693|Orphanet:398971|EFO:1000042|ICD10:C56|UMLS:CN205034|NCIT:C40078|SCTID:763131005	ordo_disease	ovary clear cell adenocarcinoma|clear cell adenocarcinoma of the ovary|clear cell adenocarcinoma of ovary|ovarian clear cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006045	A malignant glandular epithelial neoplasm characterized by the presence of clear and hobnail cells. It is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia.	NCIT:C40078|SNOMEDCT:763131005|DOID:5304|UMLS:CN205034|ORPHA:398971|UMLS:C1518693
MONDO:0006042	meningeal tuberculosis	biolink:Disease	mondo	GARD:0007828|MESH:D014390|NCIT:C84888|UMLS:C0041318|EFO:1000039		TB meningitis	http://purl.obolibrary.org/obo/MONDO_0006042	A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis.	MESH:D014390|UMLS:C0041318|NCIT:C84888
MONDO:0006043	metaplastic breast carcinoma	biolink:Disease	mondo	ICD10:C50.6|ICD10:C50.8|ICD10:C50.3|SCTID:763479005|ICD10:C50.2|NCIT:C5164|ICD10:C50.5|ICD10:C50.4|GARD:0010804|Orphanet:213531|ICD10:C50.1|EFO:1000040|ICD10:C50.0|UMLS:C1334708|DOID:4680|ONCOTREE:MBC	ordo_disease	metaplastic carcinoma of the breast|metaplastic breast carcinoma|metaplastic breast cancer|metaplastic carcinoma of breast|breast metaplastic carcinoma	http://purl.obolibrary.org/obo/MONDO_0006043	A group of invasive breast carcinomas characterized by the presence of an adenocarcinomatous component which is admixed with a dominant component that is composed of squamous cells, spindle cells, or mesenchymal cells.	UMLS:C1334708|ORPHA:213531|DOID:4680|SNOMEDCT:763479005|NCIT:C5164
UBERON:4100000	skeletal element projection	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_4100000	Anatomical projection that is composed of bone or cartilage tissue.	
MONDO:0006040	lactic acidosis	biolink:Disease	mondo	SCTID:91273001|MESH:D000140|UMLS:C0001125			http://purl.obolibrary.org/obo/MONDO_0006040	Metabolic acidosis characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia.	UMLS:C0001125|MESH:D000140|SNOMEDCT:91273001|NCIT:C98969
MONDO:0006041	lung carcinoid tumor	biolink:Disease	mondo	EFO:1000037|NCIT:C4038|ONCOTREE:LUCA|UMLS:C0280089|SCTID:254627002		pulmonary carcinoid tumor|lung carcinoid tumor (disease)|lung carcinoid tumor|lung carcinoid|carcinoid tumor of lung|carcinoid tumor of the lung|carcinoid tumor (disease) of lung	http://purl.obolibrary.org/obo/MONDO_0006041	A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis.	UMLS:C0280089|NCIT:C4038|SNOMEDCT:254627002
MONDO:0018019	lead poisoning	biolink:Disease	mondo	ICD10:T56.0|ICD9:984.9|MESH:D007855|Orphanet:330015|ICD9:984.8|SCTID:38342005	ordo_disease	saturnism|Lead intoxication|plumbism	http://purl.obolibrary.org/obo/MONDO_0018019	5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs.	SNOMEDCT:38342005|ORPHA:330015|MESH:D007855
HGNC:18308	TMLHE	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18308		
MONDO:0018018	wild type ATTR amyloidosis	biolink:Disease	mondo	UMLS:C0342623|ICD9:277.39|ICD10:E85.8|SCTID:237877004|Orphanet:330001|UMLS:CN204235	ordo_disease	Senile systemic amyloidosis|wild type ATTR-related amyloidosis|ATTRwt amyloidosis|ATTRwt-related amyloidosis|SSA	http://purl.obolibrary.org/obo/MONDO_0018018		UMLS:CN204235|SNOMEDCT:237877004|ORPHA:330001|UMLS:C0342623
MONDO:0021656	nongerminomatous germ cell tumor	biolink:Disease	mondo	NCIT:C121619|GARD:0010165|ONCOTREE:NSGCT		Nongerminomatous germ cell tumor Including central nervous system|Nongerminomatous germ cell tumor|non-dysgerminomatous germ cell tumor|non-germinomatous germ cell tumor|non-seminomatous germ cell tumor|NSGCT	http://purl.obolibrary.org/obo/MONDO_0021656	A term that refers to teratoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, or mixed forms of these tumors.	NCIT:C121619
MONDO:0018015	intermittent hydrarthrosis	biolink:Disease	mondo	UMLS:C0149910|ICD10:M12.4|SCTID:711286009|Orphanet:329967	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018015		SNOMEDCT:711286009|UMLS:C0149910|ORPHA:329967
MONDO:0021657	ovarian sex cord-stromal tumor	biolink:Disease	mondo	DOID:0080369|NCIT:C4862|EFO:1000430|ONCOTREE:SCST|GARD:0012285|UMLS:C0600113		sex cord-stromal tumor of ovary|Sex cord-stromal neoplasm of the ovary|ovarian Sex cord-stromal tumor|Sex cord-stromal neoplasm of ovary|Sex cord-stromal tumor of the ovary|Sex cord-stromal tumor of ovary|sex cord stromal tumor|ovarian Sex cord-stromal neoplasm|ovarian sex cord tumor with annular tubules|ovary sex cord-stromal tumor	http://purl.obolibrary.org/obo/MONDO_0021657	A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. Representative examples include thecoma, fibroma, Sertoli cell tumor, and granulosa cell tumor.	DOID:0080369|UMLS:C0600113|NCIT:C4862
MONDO:0018014	transient neonatal multiple acyl-CoA dehydrogenase deficiency	biolink:Disease	mondo	UMLS:CN204228|ICD10:E71.3|Orphanet:329942|SCTID:723552005	ordo_disease	transient neonatal glutaric acidemia type 2|transient neonatal glutaric aciduria type 2|transient neonatal MAD deficiency|transient neonatal MADD	http://purl.obolibrary.org/obo/MONDO_0018014	Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother.	UMLS:CN204228|SNOMEDCT:723552005|ORPHA:329942
HGNC:18305	ATP6AP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18305		
MONDO:0018017	goblet cell carcinoma	biolink:Disease	mondo	GARD:0010414|Orphanet:329984|ICD10:C18.1	ordo_clinical_subtype	mucinous carcinoid|goblet cell adenocarcinoid|carcinoma of goblet cell|goblet cell carcinoma|goblet cell tumor|GCC|goblet cell carcinoid	http://purl.obolibrary.org/obo/MONDO_0018017	Goblet cell carcinoma (GCC) is an aggressive type of endocrine tumor of the appendix presenting equally in males and females in the fifth decade of life and manifesting with a palpable mass and abdominal pain or acute appendicitis. Metastasis to the ovaries, peritoneum or right colon has usually already occurred in half of patients at the time of diagnosis.	ORPHA:329984
MONDO:0021658	vascular ectasia	biolink:Disease	mondo	NCIT:C45481|UMLS:C0002959		vascular ectasia	http://purl.obolibrary.org/obo/MONDO_0021658		UMLS:C0002959|NCIT:C45481
MONDO:0033631	combined oxidative phosphorylation deficiency 51	biolink:Disease	mondo	OMIM:619057		COXPD51	http://purl.obolibrary.org/obo/MONDO_0033631		http://identifiers.org/omim/619057
MONDO:0018016	classic neuroendocrine tumor of appendix	biolink:Disease	mondo	UMLS:CN204231|ICD10:D37.3|Orphanet:329977	ordo_clinical_subtype	classic appendix neuroendocrine tumor|classic appendiceal neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0018016	Classic endocrine tumor of the appendix is a type of endocrine tumor of the appendix, seen twice as frequently in females than in males, and usually presenting before the fifth decade of life. Classic endocrine tumor of the appendix is usually asymptomatic when located in the tip of the appendix (without obstruction), but acute appendicitis is often associated.	UMLS:CN204231|ORPHA:329977
MONDO:0021659	combined carcinoid and adenocarcinoma	biolink:Disease	mondo	NCIT:C4139|MESH:C538230|UMLS:C0334302|GARD:0005741|ICDO:8245/3|ICDO:8244/3	gard_rare	mixed carcinoid tumor|composite carcinoid|composite carcinoid tumor|combined carcinoid tumor and adenocarcinoma|composite carcinoid neoplasm|combined carcinoid and adenocarcinoma|combined carcinoid neoplasm and adenocarcinoma|mixed carcinoid neoplasm|adenocarcinoid neoplasm|adenocarcinoid tumor	http://purl.obolibrary.org/obo/MONDO_0021659	A malignant epithelial neoplasm composed of a mixture of neuroendocrine cells with morphologic and immunohistochemical characteristics of carcinoid tumor and malignant glandular cells.	MESH:C538230|NCIT:C4139|UMLS:C0334302
MONDO:0018011	juvenile overlap myositis	biolink:Disease	mondo	Orphanet:329894|ICD10:M33.0|SCTID:766252004	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018011	Juvenile overlap myositis is a rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients.	SNOMEDCT:766252004|ORPHA:329894
MONDO:0033630	neurodevelopmental disorder with speech impairment and dysmorphic facies	biolink:Disease	mondo	OMIM:619056		NEDSID	http://purl.obolibrary.org/obo/MONDO_0033630		http://identifiers.org/omim/619056
MONDO:0018010	juvenile idiopathic inflammatory myopathy	biolink:Disease	mondo	Orphanet:329888	ordo_group_of_disorders	JIIM	http://purl.obolibrary.org/obo/MONDO_0018010		ORPHA:329888
GO:0031594	neuromuscular junction	biolink:OntologyClass	mondo			NMJ|motor endplate	http://purl.obolibrary.org/obo/GO_0031594	The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential.	
MONDO:0018013	non-immunoglobulin-mediated membranoproliferative glomerulonephritis	biolink:Disease	mondo	Orphanet:329918|ICD10:N00.5	ordo_clinical_subtype	non-immunoglobulin-mediated MPGN|C3 glomerulopathy|non-Ig-mediated MPGN|non-Ig-mediated membranoproliferative glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0018013		ORPHA:329918
MONDO:0018012	obsolete tetanus	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018012		
MONDO:0008719	acrorenal syndrome, autosomal recessive	biolink:Disease	mondo	GARD:0000514|OMIM:201310|UMLS:C0796290|MESH:C535666		autosomal recessive acrorenal syndrome|Curran syndrome|acrorenal syndrome recessive|acrorenal syndrome, autosomal recessive|acrorenal syndrome autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0008719	Autosomal recessive form of acrorenal syndrome.	UMLS:C0796290|http://identifiers.org/omim/201310|MESH:C535666
MONDO:0008718	Morvan syndrome	biolink:Disease	mondo	GARD:0009766|EFO:1001897|UMLS:C0751540|Orphanet:83467|ICD10:G60.8|SCTID:763803004	ordo_disease	limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome|Morvan's fibrillary chorea	http://purl.obolibrary.org/obo/MONDO_0008718	Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases.	SNOMEDCT:763803004|UMLS:C0751540|ORPHA:83467
MONDO:0008717	acromesomelic dysplasia, Hunter-Thompson type	biolink:Disease	mondo	DOID:0080051|GARD:0000506|Orphanet:968|OMIM:201250|ICD10:Q78.8	ordo_malformation_syndrome	acromesomelic dwarfism|acromesomelic dysplasia Hunter Thompson type|acromesomelic dysplasia, Hunter-Thompson type|AMDH|acromesomelic dysplasia, Hunter-Thompson type; AMDH	http://purl.obolibrary.org/obo/MONDO_0008717	Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal.	DOID:0080051|http://identifiers.org/omim/201250|ORPHA:968
MONDO:0008716	acrogeria	biolink:Disease	mondo	SCTID:238872007|Orphanet:2500|OMIM:201200|GARD:0006543|ICD9:259.8|ICD10:L90.8|UMLS:C0406584|UMLS:C0238590|MESH:C538187	ordo_malformation_syndrome	familial acrogeria|acrogeria, Gottron type|Gottron syndrome|acrometageria|acrogeria, Gottron type|Metageria	http://purl.obolibrary.org/obo/MONDO_0008716	A congenital skin condition characterized by premature aging, more especially in the form of unusually fragile, thin skin on the hands and feet. Its onset is in early childhood; it progresses over the next few years and then remains stable. A bruising tendency has been observed.	UMLS:C0238590|MESH:C538187|ORPHA:2500|UMLS:C0406584|http://identifiers.org/omim/201200|SNOMEDCT:238872007
MONDO:0008715	acrofrontofacionasal dysostosis	biolink:Disease	mondo	GARD:0000484|ICD10:Q75.1|UMLS:C1860118|OMIM:201180|DOID:0060226|Orphanet:1784|MESH:C538186|SCTID:720408003	ordo_malformation_syndrome	cleft Lip/palate with frontonasal dysostosis and postaxial polysyndactyly|acrofrontofacionasal dysostosis type 1|Affn dysostosis 1|Richieri-Costa-Colletto syndrome|polysyndactyly, postaxial, frontonasal dysostosis and cleft lip/palate|polysyndactyly, postaxial, frontonasal dysostosis, and cleft Lip/palate|acrofrontofacionasal dysostosis syndrome|acrofrontofacionasal dysostosis 1|AFFN dysostosis|acro fronto facio nasal dysostosis	http://purl.obolibrary.org/obo/MONDO_0008715	Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.	MESH:C538186|SNOMEDCT:720408003|UMLS:C1860118|ORPHA:1784|http://identifiers.org/omim/201180|DOID:0060226
MONDO:0008714	acrofacial dysostosis Rodriguez type	biolink:Disease	mondo	SCTID:720430002|MESH:C538183|ICD10:Q75.4|GARD:0000496|OMIM:201170|UMLS:C1860119|Orphanet:1788|DOID:0060383	ordo_malformation_syndrome|gard_rare	Rodriguez lethal acrofacial dysostosis syndrome|acrofacial dysostosis, Rodríguez type|acrofacial dysostosis, syndrome of Rodriguez|acrofacial dysostosis syndrome of Rodriguez	http://purl.obolibrary.org/obo/MONDO_0008714	Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth.	SNOMEDCT:720430002|MESH:C538183|UMLS:C1860119|ORPHA:1788|http://identifiers.org/omim/201170|DOID:0060383
MONDO:0008713	acrodermatitis enteropathica	biolink:Disease	mondo	GARD:0006343|MESH:C538178|NCIT:C128802|DOID:0050605|UMLS:C0221036|SCTID:37702000|GARD:0005723|ICD10:E83.2|OMIM:201100|ICD9:686.8|Orphanet:37	ordo_disease|gard_rare	AEZ|acrodermatitis enteropathica, zinc deficiency type|Danbolt-Cross syndrome|acrodermatitis enteropathica zinc deficiency type|acrodermatitis enteropathica, zinc-deficiency type; AEZ|ae|Brandt syndrome|acrodermatitis enteropathica, zinc-deficiency type|inherited zinc deficiency|enteropathica	http://purl.obolibrary.org/obo/MONDO_0008713	Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.	ORPHA:37|MESH:C538178|SNOMEDCT:37702000|http://identifiers.org/omim/201100|DOID:0050605|UMLS:C0221036|NCIT:C128802
NCBITaxon:7524	Hemiptera	organism taxon	mondo	GC_ID:1|PMID:7666451		bugs	http://purl.obolibrary.org/obo/NCBITaxon_7524		
MONDO:0008712	acrocraniofacial dysostosis	biolink:Disease	mondo	UMLS:C1860145|Orphanet:949|GARD:0003075|SCTID:720418008|ICD10:Q87.0|OMIM:201050|MESH:C536892	ordo_malformation_syndrome	acrocraniofacial dysostosis|Kaplan-Plauchu-Fitch syndrome|Kaplan Plauchu Fitch syndrome	http://purl.obolibrary.org/obo/MONDO_0008712	Acrocraniofacial dysostosis is a very rare form of acrofacial dyosotosis, reported in two sisters to date, characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.	UMLS:C1860145|http://identifiers.org/omim/201050|SNOMEDCT:720418008|MESH:C536892|ORPHA:949
MONDO:0008711	Goodman syndrome	biolink:Disease	mondo	MESH:C537287|ICD10:Q87.0|GARD:0002549|SCTID:720600004|OMIM:201020|Orphanet:65798	ordo_malformation_syndrome|gard_rare	ACPS 4|acrocephalopolysyndactyly type 4|acrocephalopolysyndactyly type IV|Goodman syndrome|ACPS4|Goodman camptodactyly	http://purl.obolibrary.org/obo/MONDO_0008711	Goodman syndrome is an extremely rare genetic disorder characterized by marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome.	ORPHA:65798|SNOMEDCT:720600004|MESH:C537287|http://identifiers.org/omim/201020
MONDO:0008710	Carpenter syndrome 1	biolink:Disease	mondo	SCTID:205813009|OMIM:201000		Carpenter syndrome|acrocephalopolysyndactyly type 2|Carpenter syndrome type 1|CRPT1|Carpenter syndrome caused by mutation in RAB23|RAB23 Carpenter syndrome|Carpenter syndrome 1|CARPENTER syndrome 1; CRPT1|ACPS 2	http://purl.obolibrary.org/obo/MONDO_0008710	Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene.	http://identifiers.org/omim/201000|SNOMEDCT:205813009
UBERON:0005352	spermatic cord	biolink:AnatomicalEntity	mondo			spermatic chord|funiculus spermaticus	http://purl.obolibrary.org/obo/UBERON_0005352	The cord-like structure in males comprising the vas deferens and associated tissue that runs from the abdomen down to each testis[MP].	
HP:0025015	Abnormal vascular morphology	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0025015		
CHEBI:32784	tyrosinate(1-)	biolink:ChemicalSubstance	mondo			hydrogen tyrosinate|tyrosine anion|tyrosinate(1-)|2-amino-3-(4-hydroxyphenyl)propanoate	http://purl.obolibrary.org/obo/CHEBI_32784	An alpha-amino-acid anion that is the conjugate base of tyrosine, arising from deprotonation of the carboxy group.	
CHEBI:32785	tyrosinate(2-)	biolink:ChemicalSubstance	mondo			tyrosinate|2-amino-3-(4-oxidophenyl)propanoate|tyrosinate(2-)|tyrosine dianion	http://purl.obolibrary.org/obo/CHEBI_32785		
CHEBI:32786	tyrosinium	biolink:ChemicalSubstance	mondo			tyrosinium|1-carboxy-2-(4-hydroxyphenyl)ethanaminium|tyrosine cation	http://purl.obolibrary.org/obo/CHEBI_32786	An alpha-amino-acid cation that is the conjugate acid of tyrosine, arising from protonation of the amino group.	
HGNC:3767	FLT4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3767		
HGNC:3765	FLT3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3765		
UBERON:0005359	spinal cord ependyma	biolink:AnatomicalEntity	mondo			spinal cord ependymal layer|ependyma of central canal of spinal cord|spinal cord ventricular layer	http://purl.obolibrary.org/obo/UBERON_0005359	the ependymal cell layer that lines the spinal cord	
UBERON:0005358	ventricle of nervous system	biolink:AnatomicalEntity	mondo			ventricular layer|region of wall of ventricular system of neuraxis	http://purl.obolibrary.org/obo/UBERON_0005358	A layer in the central nervous system that lines system of communicating cavities in the brain and spinal cord.	
HGNC:1100	BRCA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1100		
UBERON:0005357	brain ependyma	biolink:AnatomicalEntity	mondo			ependyma of ventricular system of brain	http://purl.obolibrary.org/obo/UBERON_0005357	the ependymal cell layer that lines the brain ventricles	
HGNC:3762	FLRT3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3762		
HGNC:1101	BRCA2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1101		
UBERON:0005356	Rathke's pouch	biolink:AnatomicalEntity	mondo			pouch of Rathke|adenohypophysial pouch|craniopharyngeal pouch|Rathke's cleft|Rathkes pouch epithelium|hypophyseal diverticulum|Rathke's cyst|Rathke pouch|Rathke's pocket|pituitary diverticulum|craniobuccal pouch|nasohypophyseal pouch|hypophyseal pouch	http://purl.obolibrary.org/obo/UBERON_0005356	A pouch of ectoderm that grows out from the upper surface of the embryonic stomodeum and gives rise to the anterior and intermediate lobes of the pituitary gland[MP]. In embryogenesis, Rathke's pouch is a depression in the roof of the developing mouth in front of the buccopharyngeal membrane. It gives rise to the anterior pituitary (adenohypophysis), a part of the endocrine system[WP].	
MONDO:0008709	acrocephalopolydactyly	biolink:Disease	mondo	SCTID:720417003|UMLS:C3495588|OMIM:200995|ICD10:Q87.0|MESH:C573722|UMLS:CN201238|GARD:0002096|Orphanet:221054|GARD:0000486	gard_rare|ordo_malformation_syndrome	Elejalde syndrome|acrocephalopolydactylous dysplasia	http://purl.obolibrary.org/obo/MONDO_0008709	Acrocephalopolydactyly, also known as Elejalde syndrome, is an extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date.	SNOMEDCT:720417003|ORPHA:221054|http://identifiers.org/omim/200995|MESH:C573722|UMLS:CN201238|UMLS:C3495588
MONDO:0008729	congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	biolink:Disease	mondo	ICD9:277.6|ICD10:E25.0|MESH:C535978|GARD:0005658|SCTID:124214007|MedDRA:10000002|UMLS:C0268292|OMIM:202010|NCIT:C131085|Orphanet:90795	ordo_disease	adrenal hyperplasia hypertensive form|CYP11B1 deficiency|adrenal hyperplasia, congenital, due to steroid 11-BETA-HYDROXYLASE deficiency|adrenal hyperplasia 4|P450C11B1 deficiency|adrenal hyperplasia, hypertensive form|steroid 11-Beta-Hydroxylase deficiency|adrenal hyperplasia IV|CAH due to 11-beta-hydroxylase deficiency|11-Beta-Hydroxylase deficiency	http://purl.obolibrary.org/obo/MONDO_0008729	Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.	MEDDRA:10000002|SNOMEDCT:124214007|UMLS:C0268292|http://identifiers.org/omim/202010|ORPHA:90795|NCIT:C131085|MESH:C535978
MONDO:0008728	classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	biolink:Disease	mondo	ICD10:E25.0|SCTID:124221007|SCTID:717261006|GARD:0012665|Orphanet:90794|NCIT:C131087|GARD:0005757|UMLS:C4273964|OMIM:201910	gard_rare|ordo_disease	21 hydroxylase deficiency|adrenal hyperplasia 3|adrenal hyperplasia, congenital, due to 21-HYDROXYLASE deficiency|21-OHD|congenital adrenal hyperplasia due to 21-hydroxylase deficiency|hyperandrogenism, Nonclassic type, due to 21-Hydroxylase deficiency|CYP21 deficiency|classic 21-OHD CAH|21-hydroxylase deficiency|adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency|congenital adrenal hyperplasia 1	http://purl.obolibrary.org/obo/MONDO_0008728	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classic 21-OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia.	SNOMEDCT:717261006|ORPHA:90794|UMLS:C4273964|NCIT:C131087|SNOMEDCT:124221007|http://identifiers.org/omim/201910
MONDO:0008727	congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	biolink:Disease	mondo	GARD:0009152|NCIT:C131088|Orphanet:90791|SCTID:54470008|ICD10:E25.0|MESH:C538236|OMIM:201810	ordo_disease	type II 3-beta-hydroxysteroid dehydrogenase deficiency|3-BETA-hydroxysteroid dehydrogenase, type II, deficiency OF|CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency|adrenal hyperplasia 2|HSD3B deficiency|3b-hydroxysteroid dehydrogenase deficiency|3-Beta-HSD deficiency|adrenal hyperplasia II|adrenal hyperplasia, congenital, due to 3-BETA-hydroxysteroid dehydrogenase 2 deficiency|adrenal hyperplasia, congenital, due to 3-Beta-hydroxysteroid dehydrogenase 2 deficiency|3-beta HSD deficiency|3-Beta-hydroxysteroid dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0008727	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias.	MESH:C538236|ORPHA:90791|NCIT:C131088|http://identifiers.org/omim/201810|SNOMEDCT:54470008
MONDO:0008726	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	biolink:Disease	mondo	Orphanet:63269|UMLS:C3150099|OMIM:201750		ABS1|Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; ABS1|Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis|Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis	http://purl.obolibrary.org/obo/MONDO_0008726		ORPHA:63269|UMLS:C3150099|http://identifiers.org/omim/201750
MONDO:0008725	congenital lipoid adrenal hyperplasia due to STAR deficency	biolink:Disease	mondo	OMIM:201710|Orphanet:90790|GARD:0001465|UMLS:C0342474|SCTID:44231009|ICD10:E25.0	ordo_disease	adrenal hyperplasia 1|lipoid congenital adrenal hyperplasia; LCAH|congenital adrenal hyperplasia lipoid|lipoid hyperplasia, congenital, of adrenal cortex with Male pseudohermaphroditism|CLAH|lipoid congenital adrenal hyperplasia|LCAH	http://purl.obolibrary.org/obo/MONDO_0008725	Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.	MESH:C537027|SNOMEDCT:44231009|ORPHA:90790|UMLS:C0342474|http://identifiers.org/omim/201710
MONDO:0008724	adducted thumbs-arthrogryposis syndrome, Christian type	biolink:Disease	mondo	OMIM:201550|Orphanet:2952|ICD10:Q74.8	ordo_malformation_syndrome	adducted thumbs syndrome	http://purl.obolibrary.org/obo/MONDO_0008724	Adducted thumbs-arthrogryposis, Christian type is a type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism ("myopathic" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983.	ORPHA:2952|http://identifiers.org/omim/201550
MONDO:0008723	very long chain acyl-CoA dehydrogenase deficiency	biolink:Disease	mondo	OMIM:201475|SCTID:237997005|ICD10:E71.3|UMLS:C3887523|DOID:0080155|Orphanet:26793|ICD10:E71.310|NCIT:C98647|GARD:0005508	clingen|ordo_disease	acyl-CoA dehydrogenase, very long-chain, deficiency OF; ACADVLD|very long-chain acyl-CoA dehydrogenase deficiency|acyl-CoA dehydrogenase, very long-chain, deficiency OF|acyl-CoA dehydrogenase, very long-chain deficiency|ACADVLD|VLCAD deficiency|VLCAD|very long-chain acyl-Coenzyme A dehydrogenase deficiency|VLCADD	http://purl.obolibrary.org/obo/MONDO_0008723	Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.	DOID:0080155|UMLS:C3887523|ORPHA:26793|http://identifiers.org/omim/201475|NCIT:C98647|SNOMEDCT:237997005
MONDO:0008722	short chain acyl-CoA dehydrogenase deficiency	biolink:Disease	mondo	ICD10:E71.3|OMIM:201470|Orphanet:26792|GARD:0004822|NCIT:C84539|ICD10:E71.312|DOID:0080154|MESH:C537596	clingen|ordo_disease|gard_rare	Acads deficiency|ACADS deficiency|acyl-CoA dehydrogenase, short-chain, deficiency OF; ACADSD|SCADD|acyl-CoA dehydrogenase, short-chain, deficiency OF|SCAD|short-chain acyl-CoA dehydrogenase deficiency|Scad deficiency|short-chain acyl-CoA dehydrogenase deficiency (SCAD)|Scadh deficiency|SCAD deficiency|ACADSD|short-chain acyl-coenzyme A dehydrogenase deficiency|short-chain acyl-Coenzyme A dehydrogenase deficiency (SCAD)|lipid-storage myopathy secondary to short-chain acyl-Coa dehydrogenase deficiency|acyl-CoA dehydrogenase, short-chain deficiency	http://purl.obolibrary.org/obo/MONDO_0008722	Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.	DOID:0080154|MESH:C537596|http://identifiers.org/omim/201470|ORPHA:26792|NCIT:C84539
MONDO:0008721	medium chain acyl-CoA dehydrogenase deficiency	biolink:Disease	mondo	OMIM:201450|MESH:C536038|NCIT:C84538|ICD9:277.85|UMLS:C0220710|ICD10:E71.311|DOID:0080153|ICD10:E71.3|GARD:0000540|Orphanet:42|SCTID:128596003	clingen|ordo_disease	MCADD|medium-chain acyl-Coenzyme A dehydrogenase deficiency|Carnitine deficiency secondary to medium-chain acyl-Coa dehydrogenase deficiency|Mcadh deficiency|acyl-CoA dehydrogenase, medium-chain, deficiency OF|ACADMD|medium-chain acyl-CoA dehydrogenase deficiency|ACADM deficiency|acyl-CoA dehydrogenase medium chain deficiency of|MCAD deficiency|medium chain acyl-coenzyme A dehydrogenase deficiency|medium chain acyl CoA dehydrogenase deficiency|Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency|acyl-CoA dehydrogenase, medium-chain deficiency|acyl-CoA dehydrogenase, medium-chain, deficiency OF; ACADMD|MCAD	http://purl.obolibrary.org/obo/MONDO_0008721	Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.	DOID:0080153|MESH:C536038|http://identifiers.org/omim/201450|SNOMEDCT:128596003|UMLS:C0220710|ORPHA:42|NCIT:C84538
MONDO:0008720	congenital isolated adrenocorticotropic hormone deficiency (disease)	biolink:Disease	mondo	OMIM:201400|ICD10:E23.6|HP:0011748|Orphanet:199296|MESH:C535668|GARD:0005727|ICD9:255.41|DOID:0080150|EFO:1001979|UMLS:C0342388|SCTID:237692001	ordo_disease	congenital isolated ACTH deficiency|isolated ACTH deficiency|ACTH deficiency, isolated|ACTH deficiency, isolated; IAD|isolated adrenocorticotropic hormone deficiency|IAD|adrenocorticotropic hormone deficiency	http://purl.obolibrary.org/obo/MONDO_0008720	A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland.	DOID:0080150|SNOMEDCT:237692001|UMLS:C0342388|http://identifiers.org/omim/201400|MESH:C535668|ORPHA:199296
UBERON:0005343	cortical plate	biolink:AnatomicalEntity	mondo			CP|future cortical layers II-VI|CxP|neocortex cortical plate|cerebral cortex cortical plate|future neocortex	http://purl.obolibrary.org/obo/UBERON_0005343	The outer neural tube region in which post-mitotic neuroblasts migrate along radial glia to form the adult cortical layers[MP].	
UBERON:0005340	dorsal telencephalic commissure	biolink:AnatomicalEntity	mondo			dorsal commissure	http://purl.obolibrary.org/obo/UBERON_0005340	A fiber tracts that connect the dorsal region of the two cerebral hemispheres and span the longitudinal fissure, including the corpus callosum and hippocampal commissure[MP].	
HGNC:3778	FN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3778		
CHEBI:17137	hydrogensulfite	biolink:ChemicalSubstance	mondo			[SO2(OH)](-)|hydrosulfite anion|hydrogensulfite(1-)|bisulfite|Bisulfite|hydroxidodioxidosulfate(1-)|hydrogentrioxosulfate(1-)|HSO3(-)|hydrogen(trioxidosulfate)(1-)|hydrogentrioxosulfate(IV)|hydrogen sulfite(1-)|bisulphite|HSO3-|Hydrogen sulfite|monohydrogentrioxosulfate	http://purl.obolibrary.org/obo/CHEBI_17137		
HGNC:3776	AFF2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3776		
HGNC:3775	FMR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3775		
HP:0001051	Seborrheic dermatitis	biolink:PhenotypicFeature	mondo	UMLS:C0036508|SNOMEDCT_US:50563003|UMLS:C3806554|SNOMEDCT_US:86708008|MSH:D012628		Seborrheic eczema|Seborrhea|Dysseborrheic dermatitis	http://purl.obolibrary.org/obo/HP_0001051	Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk.	
UBERON:0005344	peritoneal vaginal process	biolink:AnatomicalEntity	mondo			vaginal process of the peritoneum|saccus vaginalis|peritoneal diverticulum|vaginal process of testis|vaginal process of peritoneum|processus vaginalis peritonei|processus vaginalis peritoneus|processus vaginalis|vaginal process|vaginal process of peritoneum|processus vaginalis peritonei masculinus	http://purl.obolibrary.org/obo/UBERON_0005344	A peritoneal diverticulum in the embryonic lower anterior abdominal wall that traverses the inguinal canal. In the male it forms the tunica vaginalis testis and normally loses its connection with the peritoneal cavity; a persistent processus vaginalis in the female is known as the canal of Nuck[MP].	
HGNC:3771	FMO3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3771		
NCBITaxon:7509	Siphonaptera	organism taxon	mondo	GC_ID:1		fleas|fleas	http://purl.obolibrary.org/obo/NCBITaxon_7509		
UBERON:0005332	mesonephric S-shaped body	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005332	The mesonephric S-shaped body is the successor of the mesonephric comma-shaped body that contributes to the morphogenesis of a nephron in the mesonephros[GO].	
HP:0001025	Urticaria	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:64305001|MEDDRA:10046735|MSH:D014581|UMLS:C0042109|SNOMEDCT_US:247472004|SNOMEDCT_US:126485001	hposlim_core	Hives	http://purl.obolibrary.org/obo/HP_0001025	Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.	
UBERON:0005331	mesonephric renal vesicle	biolink:AnatomicalEntity	mondo			mesonephric vesicle	http://purl.obolibrary.org/obo/UBERON_0005331	The renal vesicle is the primordial structure of the mesonephric nephron epithelium, and is formed by the condensation of mesenchymal cells[GO].	
HP:0001022	Albinism	biolink:PhenotypicFeature	mondo	MSH:D000417|UMLS:C0001916|UMLS:C0333913|SNOMEDCT_US:18064000|SNOMEDCT_US:15890002		Achromasia|Albinism	http://purl.obolibrary.org/obo/HP_0001022	An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).	
UBERON:0005330	mesonephric nephron epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005330	The mesonephric nephron epithelium is a tissue that covers the surface of a nephron in the mesonephros[GO].	
UBERON:0007997	sesamoid bone of manus	biolink:AnatomicalEntity	mondo			sesamoid bone of hand	http://purl.obolibrary.org/obo/UBERON_0007997	A sesamoid bone that is part of a manus.	
CHEBI:32760	L-tyrosinate(1-)	biolink:ChemicalSubstance	mondo			hydrogen L-tyrosinate|L-tyrosine anion|L-tyrosine monoanion|(2S)-2-amino-3-(4-hydroxyphenyl)propanoate|L-tyrosinate(1-)	http://purl.obolibrary.org/obo/CHEBI_32760	An optically active form of tyrosinate having L-configuration.	
CHEBI:32761	L-tyrosinate(2-)	biolink:ChemicalSubstance	mondo			L-tyrosinate|(2S)-2-amino-3-(4-oxidophenyl)propanoate|L-tyrosinate(2-)|L-tyrosine dianion	http://purl.obolibrary.org/obo/CHEBI_32761	The L-enantiomer of tyrosinate(2-).	
CHEBI:32762	L-tyrosinium	biolink:ChemicalSubstance	mondo			L-tyrosine cation|L-tyrosinium|(1S)-1-carboxy-2-(4-hydroxyphenyl)ethanaminium	http://purl.obolibrary.org/obo/CHEBI_32762	An optically active form of tyrosinium having L-configuration.	
NCBITaxon:7511	Pulicidae	organism taxon	mondo	GC_ID:1		common fleas	http://purl.obolibrary.org/obo/NCBITaxon_7511		
CHEBI:30102	diazynium	biolink:ChemicalSubstance	mondo			diazynium|HN2+|N#NH(+)	http://purl.obolibrary.org/obo/CHEBI_30102		
UBERON:0005339	outflow tract pulmonary component	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005339		
UBERON:0005338	outflow tract aortic component	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005338	An outflow tract that is part of a aorta.	
UBERON:0005337	outflow tract of ventricle	biolink:AnatomicalEntity	mondo			heart ventricle outflow tract|outflow part of ventricle|ventricular outflow tract	http://purl.obolibrary.org/obo/UBERON_0005337	A ventricular outflow tract is a portion of either the left ventricle or right ventricle of the heart through which blood passes in order to enter the great arteries. The right ventricular outflow tract (RVOT) is an infundibular extension of the ventricular cavity which connects to the pulmonary artery. The left ventricular outflow tract (LVOT), which connects to the aorta, is nearly indistinguishable from the rest of the ventricle[WP].	
HGNC:1122	BTD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1122		
UBERON:0005334	oral lamina propria	biolink:AnatomicalEntity	mondo			lamina propria of oral mucosa	http://purl.obolibrary.org/obo/UBERON_0005334	A lamina propria that is part of a mucosa of oral region.	
UBERON:0005333	mammary bud	biolink:AnatomicalEntity	mondo			lactiferous gland bud|mammary primordium|milk bud|mammary gland bud	http://purl.obolibrary.org/obo/UBERON_0005333	A bulb of epithelial cells that forms from the mammary placode that develops into the mammary gland.	
MONDO:0008708	acrocallosal syndrome	biolink:Disease	mondo	SCTID:715951007|MESH:D055673|OMIM:200990|Orphanet:36|GARD:0005721|ICD10:Q04.0|DOID:9250|NCIT:C84531|UMLS:C0796147	ordo_malformation_syndrome	Joubert syndrome 12|acrocallosal syndrome|hallux Duplication, postaxial polydactyly, and absence of corpus callosum|Schinzel syndrome 1|acrocallosal syndrome; ACLS|Joubert syndrome 12/15, digenic|acrocallosal syndrome, Schinzel type|Schinzel acrocallosal syndrome|absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly|ACLS|ACS	http://purl.obolibrary.org/obo/MONDO_0008708	Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.	SNOMEDCT:715951007|http://identifiers.org/omim/200990|DOID:9250|ORPHA:36|NCIT:C84531|UMLS:C0796147|MESH:D055673
MONDO:0008707	acro-renal-mandibular syndrome	biolink:Disease	mondo	Orphanet:958|ICD10:Q87.8|UMLS:C1860166|OMIM:200980|GARD:0000480|SCTID:720414005|MESH:C535665	ordo_malformation_syndrome	acrorenal-uterine-mandibular syndrome|acrorenal mandibular syndrome|split hand split foot mandibular hypoplasia|acro-renal-uterine-mandibular syndrome|acrorenal-mandibular syndrome|split-hand and split-foot with mandibular hypoplasia|split hand/split foot-mandibular hypoplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0008707	Acro-renal-mandibular syndrome is a very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested.	MESH:C535665|http://identifiers.org/omim/200980|SNOMEDCT:720414005|UMLS:C1860166|ORPHA:958
MONDO:0008706	Ackerman syndrome	biolink:Disease	mondo	SCTID:722280000|UMLS:C1860167|OMIM:200970|MESH:C538170|ICD10:K00.2|Orphanet:2561|GARD:0000469	gard_rare|ordo_malformation_syndrome	pyramidal molar-glaucoma-upper abnormal lip syndrome|molar roots, pyramidal, with juvenile glaucoma and unusual upper lip|Ackerman fused molar rooth syndrome|juvenile glaucoma with unusual upper lip and dental roots|Ackerman syndrome|pyramidal molars, glaucoma, abnormal upper lip|glaucoma, juvenile, with unusual upper lip and dental roots	http://purl.obolibrary.org/obo/MONDO_0008706	Ackerman syndrome is characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers.	http://identifiers.org/omim/200970|SNOMEDCT:722280000|MESH:C538170|ORPHA:2561|UMLS:C1860167
MONDO:0008705	lysosomal acid phosphatase deficiency	biolink:Disease	mondo	Orphanet:35121|ICD9:277.6|SCTID:57863006|OMIM:200950|ICD10:E83.3|MESH:C562645|UMLS:C0268410	ordo_disease	lysosomal acid phosphatase deficiency|acid phosphatase deficiency	http://purl.obolibrary.org/obo/MONDO_0008705		ORPHA:35121|http://identifiers.org/omim/200950|SNOMEDCT:57863006|MESH:C562645|UMLS:C0268410
MONDO:0008704	short-limb skeletal dysplasia with severe combined immunodeficiency	biolink:Disease	mondo	UMLS:C1860168|OMIM:200900|GARD:0002988|MESH:C565984|Orphanet:935|ICD10:D82.2|GARD:0000463	gard_rare|ordo_disease	agammaglobulinemia and achondroplasia|achondroplasia-severe combined immunodeficiency syndrome|achondroplasia and Swiss-type agammaglobulinemia|achondroplasia, so-called, and severe combined immunodeficiency|achondroplasia and Swiss type agammaglobulinemia|immunodeficiency-short limb dwarfism syndrome|short limb skeletal dysplasia with SCID|achondroplasia-SCID syndrome|SLSD with SCID|achondroplasia so-called and severe combined immunodeficiency|achondroplasia-Swiss type agammaglobulinemia syndrome|achondroplasia and severe combined immunodeficiency|short-limb skeletal dysplasia with severe combined immunodeficiency|Slsd with SCID	http://purl.obolibrary.org/obo/MONDO_0008704	Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.	UMLS:C2931087|http://identifiers.org/omim/200900|UMLS:C1860168|MESH:C536020|ORPHA:935|MESH:C565984
MONDO:0008703	acromesomelic dysplasia, Grebe type	biolink:Disease	mondo	OMIM:200700|DOID:0080052|GARD:0001300|ICD10:Q78.8|Orphanet:2098|NCIT:C3816|UMLS:C0265260	ordo_malformation_syndrome	GREBE chondrodysplasia|achondrogenesis, Brazilian|hypochondrogenesis|chondrodysplasia, Grebe type|Grebe chondrodysplasia|achondrogenesis type II (formerly)|achondrogenesis, type II, formerly|chondrodysplasia, GREBE type|AMDG|achondrogenesis, type II|acromesomelic dysplasia, Grebe type|Grebe dysplasia|type II achondrogenesis|Brazilian achondrogenesis|Grebe syndrome|Langer-Saldino achondrogenesis	http://purl.obolibrary.org/obo/MONDO_0008703	Acromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.	http://identifiers.org/omim/200700|ORPHA:2098|NCIT:C3816|DOID:0080052|UMLS:C0265260
MONDO:0008702	achondrogenesis type II	biolink:Disease	mondo	OMIM:200610|ICD10:Q77.0|GARD:0008713|MESH:C536017|Orphanet:93296|DOID:0080056	ordo_clinical_subtype	achondrogenesis, type II; ACG2|ACG2|achondrogenesis, type IB, formerly|achondrogenesis, type II|achondrogenesis, type IB|chondrogenesis imperfecta|achondrogenesis, type 2|hypochondrogenesis|achondrogenesis, Langer-Saldino type|achondrogenesis type 2	http://purl.obolibrary.org/obo/MONDO_0008702	Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.	UMLS:C0220685|ORPHA:93296|DOID:0080056|MESH:C536017|http://identifiers.org/omim/200610
MONDO:0008701	achondrogenesis type IA	biolink:Disease	mondo	OMIM:200600|GARD:0000459|ICD10:Q77.0|ICD9:756.9|Orphanet:93299|SCTID:42725006|MESH:C536015|DOID:0080054	ordo_clinical_subtype	achondrogenesis, Houston-Harris type|achondrogenesis type 1A|achondrogenesis, type IA|achondrogenesis, type 1A|achondrogenesis, type IA; ACG1A|ACG1A|achondrogenesis Houston-Harris type|Houston-Harris achondrogenesis	http://purl.obolibrary.org/obo/MONDO_0008701	Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.	ORPHA:93299|DOID:0080054|MESH:C536015|SNOMEDCT:42725006|UMLS:C0265273|http://identifiers.org/omim/200600
UBERON:0005319	mesonephric collecting duct	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005319	The collecting duct is the final common path through which urine flows before entering the ureter and then emptying into the bladder[GO].	
MONDO:0008700	acheiropody	biolink:Disease	mondo	GARD:0000376|DOID:0050603|Orphanet:931|OMIM:200500|SCTID:177504007|MESH:C536014|ICD10:Q74.8	ordo_morphological_anomaly	acheiropody|ACHP|horn-Kolb syndrome|acheiropody, Brazilian type|acheiropodia|acheiropody; ACHP	http://purl.obolibrary.org/obo/MONDO_0008700	Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance.	MESH:C536014|SNOMEDCT:177504007|UMLS:C0265559|DOID:0050603|ORPHA:931|http://identifiers.org/omim/200500
NCBITaxon:43786	Culicomorpha	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_43786		
NCBITaxon:43787	Psychodomorpha	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_43787		
UBERON:0005321	mesonephric smooth muscle tissue	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005321	.	
HGNC:3791	FOLR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3791		
CHEBI:32773	D-tyrosinate(1-)	biolink:ChemicalSubstance	mondo			D-tyrosine monoanion|D-tyrosinate(1-)|hydrogen D-tyrosinate|(2R)-2-amino-3-(4-hydroxyphenyl)propanoate	http://purl.obolibrary.org/obo/CHEBI_32773	An optically active form of tyrosinate(1-) having D-configuration.	
CHEBI:32774	D-tyrosinate(2-)	biolink:ChemicalSubstance	mondo			D-tyrosinate(2-)|D-tyrosine dianion|(2R)-2-amino-3-(4-oxidophenyl)propanoate|D-tyrosinate	http://purl.obolibrary.org/obo/CHEBI_32774	The D-enantiomer of tyrosinate(2-).	
CHEBI:32775	D-tyrosinium	biolink:ChemicalSubstance	mondo			(1R)-1-carboxy-2-(4-hydroxyphenyl)ethanaminium|D-tyrosine cation|D-tyrosinium	http://purl.obolibrary.org/obo/CHEBI_32775	An optically active form of tyrosinium having D-configuration.	
UBERON:0005328	mesonephric comma-shaped body	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005328	The mesonephric comma-shaped body is the precursor structure to the mesonephric S-shaped body that contributes to the morphogenesis of a nephron in the mesonephros[GO].	
UBERON:0005327	mesonephric glomerular epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005327	A mesonephric glomerular visceral epithelial cell is a specialized epithelial cell that contains 'feet' that interdigitate with the 'feet' of other glomerular epithelial cells in the mesonephros[GO].	
UBERON:0005326	mesonephric glomerulus vasculature	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005326	The mesonephric glomerulus vasculature is composed of the tubule structures that carry blood or lymph in the mesonephric glomerulus[GO].	
HGNC:1133	BTK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1133		
UBERON:0005325	mesonephric glomerulus	biolink:AnatomicalEntity	mondo			glomerulus	http://purl.obolibrary.org/obo/UBERON_0005325	The mesonephric glomerulus is a capillary tuft which forms a close network with the visceral epithelium (podocytes) and the mesangium to form the filtration barrier and is surrounded by Bowman's capsule in nephrons of the mature vertebrate kidney, or mesonephros[GO].	
UBERON:0005323	mesonephric mesenchyme	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005323	Mesonephric mesenchyme is the tissue made up of loosely connected mesenchymal cells in the mesonephros[GO].	
UBERON:0005322	mesonephric nephron	biolink:AnatomicalEntity	mondo			stage IV nephron|nephron of mesonephros	http://purl.obolibrary.org/obo/UBERON_0005322	A nephron that is part of a mesonephros.	
MONDO:0008759	oxoglutaricaciduria	biolink:Disease	mondo	UMLS:C2752074|GARD:0000617|MESH:C536582|SCTID:733630004|OMIM:203740|Orphanet:31|ICD10:E88.8	ordo_disease	Oxoglutaric aciduria|Alpha KGD deficiency|2-ketoglutarate dehydrogenase deficiency|Alpha-ketoglutarate dehydrogenase deficiency|2 alpha ketoglutarate dehydrogenase deficiency|Alpha-Kgd deficiency|ALPHA-ketoglutarate dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0008759	Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder, resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases.	SNOMEDCT:733630004|http://identifiers.org/omim/203740|UMLS:C2752074|MESH:C536582|ORPHA:31
MONDO:0008758	mitochondrial DNA depletion syndrome 4a	biolink:Disease	mondo	SCTID:20415001|ICD10:G31.81|DOID:0080122|DOID:1442|MedDRA:10062943|OMIM:203700|ICD10:G31.8|ICD9:330.8|NCIT:C35257|Orphanet:726|UMLS:C0205710|GARD:0005783	ordo_disease	PNDC|Alpers-Huttenlocher syndrome|Alpers Huttenlocher syndrome|mitochondrial DNA depletion syndrome 4A (Alpers type)|Poliodystrophia cerebri progressiva|Alpers progressive infantile poliodystrophy|AHD|Alpers Huttenlocher disease|AHS|infantile poliodystrophy|progressive sclerosing poliodystrophy|diffuse cerebral degeneration in infancy|Alpers diffuse Degeneration of cerebral Gray matter with hepatic cirrhosis|Alpers progressive sclerosing poliodystrophy|Alpers syndrome|Alper's syndrome|Alpers' disease or gray-matter degeneration|mitochondrial DNA depletion syndrome type 4a|mitochondrial DNA depletion syndrome 4A (Alpers type); MTDPS4A|MTDPS4A|progressive neuronal degeneration of childhood with liver disease|Alper syndrome|mitochondrial DNA depletion syndrome 4A|neuronal Degeneration of childhood with liver disease, progressive|Alpers disease|progressive cerebral poliodystrophy	http://purl.obolibrary.org/obo/MONDO_0008758	Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.	MESH:D002549|NCIT:C35257|SNOMEDCT:20415001|DOID:0080122|http://identifiers.org/omim/203700|ORPHA:726|UMLS:C0205710|MEDDRA:10062943|DOID:1442
MONDO:0008757	alopecia universalis	biolink:Disease	mondo	SCTID:86166000|DOID:0050634|ICD9:704.09|ICD10:L63.1|UMLS:C0263505|GARD:0000614|MESH:C537055|MedDRA:10001767|Orphanet:701|OMIM:203655	ordo_disease	atrichia, generalized|alopecia universalis congenita; ALUNC|alopecia areata universalis|ALUNC|alopecia universalis congenita|AU	http://purl.obolibrary.org/obo/MONDO_0008757	Alopecia universalis is the most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body.	MESH:C537055|http://identifiers.org/omim/203655|ORPHA:701|DOID:0050634|SNOMEDCT:86166000|UMLS:C0263505|MEDDRA:10001767
MONDO:0008756	alopecia - intellectual disability syndrome	biolink:Disease	mondo	ICD10:Q87.8|Orphanet:2850|DOID:0080627|GARD:0000612|OMIMPS:203650|SCTID:716191002	ordo_disease	alopecia-intellectual disability syndrome|alopecia intellectual disbility syndrome 1|AMR syndrome 1|alopecia with severe intellectual deficit|alopecia-mental retardation syndrome|Perniola-Krajewska-Carnevale syndrome|Amr syndrome	http://purl.obolibrary.org/obo/MONDO_0008756	Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.	ORPHA:2850|DOID:0080627|SNOMEDCT:716191002
MONDO:0008755	Moynahan syndrome	biolink:Disease	mondo	ICD10:G40.4|OMIM:203600|Orphanet:2574|MESH:C537052|GARD:0000606	ordo_malformation_syndrome	alopecia-epilepsy-intellectual disability syndrome, Moynahan type|alopecia-epilepsy-oligophrenia syndrome of Moynahan|Moynahan alopecia syndrome|alopecia epilepsy oligophrenia syndrome of Moynahan	http://purl.obolibrary.org/obo/MONDO_0008755		ORPHA:2574|UMLS:C0265328|http://identifiers.org/omim/203600|MESH:C537052
MONDO:0008754	alopecia - contractures - dwarfism - intellectual disability syndrome	biolink:Disease	mondo	Orphanet:1005|UMLS:C0795895|ICD10:Q87.8|MESH:C537051|GARD:0000605|OMIM:203550	ordo_malformation_syndrome|gard_rare	ACD intellectual disability syndrome|ACD-intellectual disability syndrome|alopecia-contractures-dwarfism intellectual disability syndrome|alopecia-contractures-dwarfism mental retardation syndrome|ACD mental retardation syndrome	http://purl.obolibrary.org/obo/MONDO_0008754	Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.	http://identifiers.org/omim/203550|UMLS:C0795895|MESH:C537051|ORPHA:1005
MONDO:0008753	alkaptonuria	biolink:Disease	mondo	UMLS:C0002066|NCIT:C84546|DOID:9270|ICD9:270.2|GARD:0005775|OMIM:203500|MESH:D000474|UMLS:C2931645|MedDRA:10001689|SCTID:360378009|Orphanet:56|ICD10:E70.2|ICD10:E70.29	ordo_disease|gard_rare	hereditary ochronosis|homogentisic acid oxidase deficiency|alkaptonuria|alcaptonuria|alkaptonuric ochronosis|aku|deficiency of homogentisicase|ochronosis, hereditary|homogentisic acidura|homogentisate 1,2-dioxygenase deficiency|alkaptonuria; aku	http://purl.obolibrary.org/obo/MONDO_0008753	Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).	http://identifiers.org/omim/203500|MESH:D000474|MESH:C537862|SNOMEDCT:360378009|DOID:9270|ORPHA:56|NCIT:C84546|UMLS:C2931645|MEDDRA:10001689|UMLS:C0002066
NCBITaxon:41197	Heteroneura	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_41197		
MONDO:0008752	Alexander disease	biolink:Disease	mondo	UMLS:C0270726|OMIM:203450|Orphanet:58|SCTID:81854007|MESH:D038261|GARD:0005774|NCIT:C84545|DOID:4252|ICD10:E75.2	gard_rare|ordo_disease	megalencephaly in infancy accompanied by progressive spasticity and dementia|alexanders leukodystrophy|ALXDRD|Alexander disease|Alexander disease; ALXDRD|AxD|Alexander's disease	http://purl.obolibrary.org/obo/MONDO_0008752	Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death.	UMLS:C0270726|DOID:4252|SNOMEDCT:81854007|ORPHA:58|NCIT:C84545|MESH:D038261|http://identifiers.org/omim/203450
NCBITaxon:41196	Neolepidoptera	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_41196		
MONDO:0008751	corticosterone methyloxidase type 1 deficiency	biolink:Disease	mondo	SCTID:47757001|OMIM:203400|DOID:0080626|GARD:0005660|UMLS:CN074214	gard_rare	corticosterone 18-monooxygenase deficiency|CMO 1 deficiency|corticosterone methyl oxidase type I deficiency|18-Hydroxylase deficiency|corticosterone methyloxidase type I deficiency|18 alpha hydroxylase deficiency|aldosterone deficiency due to defect in 18 hydroxylase|hyperreninemic hypoaldosteronism, familial, 1|aldosterone deficiency due to 18-hydroxylase defect|18 Hydroxylase deficiency|steroid 18-hydroxylase deficiency|CAH - 18-hydroxylase deficiency|CMO II deficiency|aldosterone deficiency due to defect in steroid 18-Hydroxylase|CMO I deficiency|18-hydroxycorticosterone dehydrogenase deficiency|aldosterone deficiency 1|corticosterone methyloxidase type 1 deficiency|18-hydroxylase deficiency|aldosterone deficiency due to 18-hydroxysteroid dehydrogenase deficiency|corticosterone methyl oxidase type II deficiency	http://purl.obolibrary.org/obo/MONDO_0008751		SNOMEDCT:47757001|DOID:0080626|UMLS:CN074214|http://identifiers.org/omim/203400
MONDO:0008750	microcephaly-albinism-digital anomalies syndrome	biolink:Disease	mondo	Orphanet:2513|SCTID:719377004|MESH:C537322|ICD10:Q87.8|UMLS:C1859910|GARD:0003604|OMIM:203340	gard_rare|ordo_malformation_syndrome	albinism-microcephaly-digital anomalies syndrome|Castro Gago-Pombo-Novo syndrome|albinism-microcephaly digital anomalies syndrome|microcephaly-albinism-digital anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0008750	Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.	SNOMEDCT:719377004|UMLS:C1859910|ORPHA:2513|http://identifiers.org/omim/203340|MESH:C537322
NCBITaxon:41191	Glossata	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_41191		
UBERON:0005398	female reproductive gland	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005398	A sex gland that is part of a female reproductive system.	
UBERON:0005397	brain arachnoid mater	biolink:AnatomicalEntity	mondo			arachnoidea mater cranialis|brain arachnoid matter|cranial arachnoid mater|arachnoidea mater encephali	http://purl.obolibrary.org/obo/UBERON_0005397	An arachnoid mater that surrounds a brain.	
UBERON:0005396	carotid artery segment	biolink:AnatomicalEntity	mondo			carotid artery|subdivision of common carotid artery|carotid|common carotid arterial subdivision	http://purl.obolibrary.org/obo/UBERON_0005396	One of: the common carotid artery, or its branches, the external and internal carotid arteries.	
NCBITaxon:112252	Fungi incertae sedis	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_112252		
MONDO:0021722	vulvodynia	biolink:Disease	mondo	ICD9:625.70|SCTID:238968009|MESH:D056650		vulvodynia	http://purl.obolibrary.org/obo/MONDO_0021722	Vulvodynia is a chronic pain syndrome that affects the vulvar area and occurs without an identifiable cause. Symptoms typically include a feeling of burning or irritation. For the diagnosis to be made symptoms must last at least 3 months.	SNOMEDCT:238968009|MESH:D056650
MONDO:0021723	vaginismus	biolink:Disease	mondo	ICD10:N94.2|UMLS:C2004487|MESH:D052065		myalgia of pelvic floor|vaginismus	http://purl.obolibrary.org/obo/MONDO_0021723	Tightness of the vaginal wall during vaginal penetration including sexual intercourse. It is caused by involuntary spasm of the pelvic floor muscles, and results in painful intercourse or failure to have intercourse. It may due to psychological conditions, trauma in the vaginal area, or vaginal infection.	MESH:D052065|UMLS:C2004487|NCIT:C78703
HGNC:1149	BUB1B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1149		
HP:0001080	Biliary tract abnormality	biolink:PhenotypicFeature	mondo	MSH:D001660|UMLS:C0005424|UMLS:C0549613|SNOMEDCT_US:105997008		Biliary tract disease	http://purl.obolibrary.org/obo/HP_0001080	An abnormality of the biliary tree.	
MONDO:0021725	obsolete Abderhalden-Kaufmann-Lignac syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021725		
MONDO:0021726	abdominal cystic lymphangioma	biolink:Disease	mondo	MESH:C535553|UMLS:C2930929|GARD:0000439	gard_rare	RCL|abdomen cystic lymphangioma|abdominal retroperitoneal lymphangioma|retroperitoneal cystic lymphangioma	http://purl.obolibrary.org/obo/MONDO_0021726	Abdominal cystic lymphangioma is a benign (noncancerous) malformation of the lymphatic vessels in the abdomen. These vessels carry lymph, a fluid that contains white blood cells that fight infection, throughout the body. The severity of the condition and the associated features vary from person to person. When present, signs and symptoms may include abdominal pain, an increase in waist circumference, an abdominal mass, intestinal obstruction, and/or volvulus (a twisting of the intestines). The cause of abdominal cystic lymphangioma is poorly understood; however, scientists suspect that it is a congenital anomaly. Most cases are diagnosed in people with no family history of the condition. Treatment varies based on the severity of the condition. People with small malformations that do not cause any symptoms may simply be followed with regular imaging studies to monitor for progression. Some of these cases may resolve spontaneously without treatment. When necessary, surgical excision is often the treatment of choice since it is associated with the lowest risk of recurrence..	MESH:C535553|UMLS:C2930929
MONDO:0021727	aberrant subclavian artery	biolink:Disease	mondo	MESH:C535555|UMLS:C2936828|GARD:0005706|SCTID:93353003	gard_rare	aberrant left subclavian artery|aberrant right subclavian artery|aberrant subclavian artery|congenital malposition of subclavian artery|congenital malpositioned subclavian artery	http://purl.obolibrary.org/obo/MONDO_0021727	Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is oftendiscovered as an incidental finding (such as througha barium swallow or echocardiogram). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria). Swallowing symptoms in childrenmay present asfeeding difficulty and/or recurrent respiratory tract infection. When aberrant subclavian artery causes no symptoms, treatment is not needed. If the anomaly is causing significant symptoms, treatment may involve surgery. Children with symptomatic aberrant subclavian artery should be carefully evaluated for additional vascular and heart anomalies..	SNOMEDCT:93353003|MESH:C535555|UMLS:C2936828
HGNC:1142	BTNL2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1142		
UBERON:0005399	male reproductive gland	biolink:AnatomicalEntity	mondo			accessory sex gland	http://purl.obolibrary.org/obo/UBERON_0005399	A sex gland that is part of a male reproductive system.	
MONDO:0006109	malignant biphasic mesothelioma	biolink:Disease	mondo	EFO:1000124|ICDO:9053/3|DOID:4486|UMLS:C0334515|NCIT:C4282		mesothelioma, biphasic, malignant|malignant mixed mesothelioma|biphasic mesothelioma|malignant biphasic mesothelioma, malignant|mixed mesothelioma|mesothelioma, biphasic, malignant (morphologic abnormality)|malignant biphasic mesothelioma	http://purl.obolibrary.org/obo/MONDO_0006109	A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features.	DOID:4486|NCIT:C4282|UMLS:C0334515
MONDO:0006107	benign thyroid gland neoplasm	biolink:Disease	mondo	EFO:1000122|NCIT:C3628|ICD9:226|SCTID:92439006|COHD:141249|UMLS:C0154038		benign neoplasm of the thyroid|thyroid neoplasm, benign|benign thyroid gland tumor|benign tumor of the thyroid gland|benign thyroid gland neoplasm|benign thyroid neoplasm NOS|benign neoplasm of thyroid|benign tumor of thyroid gland|benign thyroid tumor|benign tumor of the thyroid|benign tumor of thyroid|benign neoplasm of thyroid glands|thyroid gland benign neoplasm|benign neoplasm of the thyroid gland|benign thyroid neoplasm|benign neoplasm of thyroid gland	http://purl.obolibrary.org/obo/MONDO_0006107	A benign neoplasm arising from the thyroid gland.	SNOMEDCT:92439006|UMLS:C0154038|NCIT:C3628
MONDO:0008769	neuronal ceroid lipofuscinosis 2	biolink:Disease	mondo	DOID:0110726|ICD10:E75.4|NCIT:C85864|OMIM:204500|GARD:0003045|Orphanet:228349	ordo_etiological_subtype	late infantile neuronal ceroid lipofuscinosis|neuronal ceroid lipofuscinosis type 2|TPP1 neuronal ceroid lipofuscinosis|ceroid lipofuscinosis, neuronal, 2; CLN2|CLN2 disease, juvenile (subtype)|neuronal ceroid lipofuscinosis, late infantile|neuronal ceroid lipofuscinosis 2 variable age at onset|ceroid lipofuscinosis, neuronal, 2|CLN2|ceroid lipofuscinosis, neuronal, 2, variable Age at onset|Jansky-Bielschowsky disease|ceroid lipofuscinosis, neuronal, type 2|neuronal ceroid lipofuscinosis caused by mutation in TPP1|CLN2 disease, late infantile (subtype)|CLN2 disease	http://purl.obolibrary.org/obo/MONDO_0008769	A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.	DOID:0110726|NCIT:C85864|ORPHA:228349|http://identifiers.org/omim/204500
MONDO:0006108	bile duct adenoma	biolink:Disease	mondo	UMLS:C0008309|NCIT:C2942|EFO:1000123|SCTID:424091006|ICDO:8160/0|DOID:5381|MESH:D002759		bile duct adenoma (morphologic abnormality)|Cholangioadenoma|CHOLANGIOMA, benign|Hepatocholangioma|Hepatocholangiocellular adenoma|adenoma of the bile duct|adenoma of bile duct|Cholangioma|bile duct adenoma	http://purl.obolibrary.org/obo/MONDO_0006108	A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction.	MESH:D002759|NCIT:C2942|DOID:5381|UMLS:C0008309|SNOMEDCT:424091006
MONDO:0021720	fetal alcohol spectrum disorders	biolink:Disease	mondo	GARD:0000599|UMLS:CN036067|MESH:D063647	gard_rare	partial fetal alcohol syndrome|FASD|alcohol-related neurodevelopmental disorder (ARND) - type|alcohol related neurodevelopmental disorder|alcohol-related birth defects|fetal alcohol syndrome (FAS) - type|FAE (fetal alcohol effects)|alcohol related birth defects|FAEs (fetal alcohol effects)|syndrome, fetal alcohol|growth retardation, facial abnormalities, and central nervous system dysfunction|alcohol-related birth defects (ARBD) - type|FASDs|birth defects, alcohol-related|fetal alcohol syndrome	http://purl.obolibrary.org/obo/MONDO_0021720	An umbrella term used to describe a pattern of disabilities and abnormalities that result from fetal exposure to ethanol during pregnancy. It encompasses a phenotypic range that can vary greatly between individuals, but reliably includes one or more of the following: characteristic facial dysmorphism, fetal growth retardation, central nervous system abnormalities, cognitive and/or behavioral dysfunction, birth defects. The level of maternal alcohol consumption does not necessarily correlate directly with disease severity.	UMLS:CN036067|MESH:D063647
MONDO:0008768	neuronal ceroid lipofuscinosis 4A	biolink:Disease	mondo	OMIM:204300|ICD10:E75.4|GARD:0006845|DOID:0110730|Orphanet:228340	ordo_etiological_subtype	CLN4A disease|Kuf's disease, autosomal recessive|ceroid lipofuscinosis, neuronal, 4A, autosomal recessive; CLN4A|Kuf's disease type A|autosomal recessive neuronal ceroid lipofuscinosis 4A|CLN6 neuronal ceroid lipofuscinosis|adult neuronal ceroid lipofuscinosis 4A|ceroid lipofuscinosis, neuronal, 4A, autosomal recessive|neuronal ceroid lipofuscinosis caused by mutation in CLN6|CLN4A|neuronal ceroid lipofuscinosis type 4A	http://purl.obolibrary.org/obo/MONDO_0008768	Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN6 gene.	DOID:0110730|ORPHA:228340|http://identifiers.org/omim/204300
MONDO:0006105	benign conjunctival neoplasm	biolink:Disease	mondo	COHD:373982|EFO:1000110|SCTID:92068002|NCIT:C3622|UMLS:C0154025		benign neoplasm of the conjunctiva|benign neoplasm of conjunctiva|benign conjunctiva tumor|benign tumor of the conjunctiva|benign tumor of conjunctiva|benign conjunctival tumor|benign conjunctival neoplasm|conjunctiva benign neoplasm|benign conjunctiva neoplasm	http://purl.obolibrary.org/obo/MONDO_0006105	Abnormal growth of the cells of the conjunctiva without malignant characteristics.	UMLS:C0154025|SNOMEDCT:92068002|NCIT:C3622
MONDO:0006106	benign smooth muscle neoplasm	biolink:Disease	mondo	EFO:1000121|UMLS:C1332539|NCIT:C6510		benign neoplasm of smooth muscle|benign smooth muscle tumor|benign tumor of the smooth muscle|benign tumor of smooth muscle|benign smooth muscle neoplasm|smooth muscle tissue benign neoplasm|benign neoplasm of the smooth muscle	http://purl.obolibrary.org/obo/MONDO_0006106	A benign mesenchymal neoplasm arising from smooth muscle tissue.	UMLS:C1332539|NCIT:C6510
MONDO:0008767	neuronal ceroid lipofuscinosis 3	biolink:Disease	mondo	OMIM:204200|GARD:0005897|DOID:0110731|Orphanet:228346|NCIT:C61258|ICD10:E75.4	ordo_etiological_subtype	CLN3 neuronal ceroid lipofuscinosis|Spielmeyer-Sjogren disease|CLN3|neuronal ceroid lipofuscinosis type 3|neuronal ceroid lipofuscinosis, juvenile|Spielmeyer Sjogren disease|batten disease|ceroid lipofuscinosis, neuronal, 3|Vogt Spielmeyer disease|ceroid lipofuscinosis, neuronal, type 3|CLN3 disease|Vogt-Spielmeyer disease|CLN3 disease, juvenile|ceroid lipofuscinosis, neuronal, 3; CLN3|juvenile neuronal ceroid lipofuscinosis|neuronal ceroid lipofuscinosis caused by mutation in CLN3	http://purl.obolibrary.org/obo/MONDO_0008767	A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.	NCIT:C61258|DOID:0110731|ORPHA:228346|http://identifiers.org/omim/204200
MONDO:0006103	benign adrenal gland pheochromocytoma	biolink:Disease	mondo	NCIT:C48305|EFO:1000106		pheochromocytoma, benign|benign adrenal gland pheochromocytoma|adrenal gland pheochromocytoma, benign	http://purl.obolibrary.org/obo/MONDO_0006103	A sporadic or familial pheochromocytoma that is confined to the adrenal gland and does not have any metastatic potential. The majority of cases are sporadic, and usually unilateral. Familial cases are usually bilateral.	NCIT:C48305
MONDO:0008766	amaurosis-hypertrichosis syndrome	biolink:Disease	mondo	OMIM:204110|Orphanet:1021|MESH:C536604|GARD:0000637|SCTID:720983002|ICD10:H35.5	ordo_disease|gard_rare	amaurosis congenita cone-rod type with congenital hypertrichosis|amaurosis congenita, cone-rod type, with congenital hypertrichosis	http://purl.obolibrary.org/obo/MONDO_0008766	Amaurosis hypertrichosis is characterised by severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents.	MESH:C536604|http://identifiers.org/omim/204110|SNOMEDCT:720983002|ORPHA:1021|UMLS:C1857588
MONDO:0008765	Leber congenital amaurosis 2	biolink:Disease	mondo	ICD10:H35.5|MESH:C536601|OMIM:204100|DOID:0110016|UMLS:C1859844|GARD:0000636	gard_rare	Leber congenital amaurosis type 2|Leber congenital amaurosis caused by mutation in RPE65|amaurosis congenita of Leber II|Leber congenital amaurosis 2|LCA2|amaurosis congenita of Leber, type 2|Leber congenital amaurosis 2; LCA2|RPE65 Leber congenital amaurosis|amaurosis congenita of Leber 2	http://purl.obolibrary.org/obo/MONDO_0008765	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPE65 gene.	MESH:C536601|DOID:0110016|http://identifiers.org/omim/204100|UMLS:C1859844
MONDO:0006104	benign carotid body paraganglioma	biolink:Disease	mondo	UMLS:C2698359|EFO:1000108|NCIT:C79950		benign chemodectoma|carotid body paraganglioma, benign|chemodectoma, benign|benign carotid body paraganglioma	http://purl.obolibrary.org/obo/MONDO_0006104	A carotid body paraganglioma that is confined to the site of origin, without metastatic potential.	UMLS:C2698359|NCIT:C79950
MONDO:0008764	Leber congenital amaurosis 1	biolink:Disease	mondo	ICD10:H35.5|OMIM:204000|DOID:0110078|GARD:0000635		Leber congenital amaurosis caused by mutation in GUCY2D|retinal blindness, congenital|Leber congenital amaurosis 1|amaurosis congenita of Leber, type 1|Leber congenital amaurosis 1; LCA1|GUCY2D Leber congenital amaurosis|amaurosis congenita of Leber I|LCA1|CRB|LCA|amaurosis congenita of Leber 1|Leber congenital amaurosis type 1	http://purl.obolibrary.org/obo/MONDO_0008764	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GUCY2D gene.	DOID:0110078|http://identifiers.org/omim/204000
MONDO:0006101	obsolete Bartholin gland squamous cell carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006101		
MONDO:0008763	Alstrom syndrome	biolink:Disease	mondo	NCIT:C84549|Orphanet:64|MESH:D056769|DOID:0050473|UMLS:C0268425|ICD9:759.89|GARD:0005787|OMIM:203800|MedDRA:10068783|SCTID:63702009|ICD10:Q87.8	ordo_disease	Alstrom syndrome|Alss|alms|Alstrom's syndrome|Alstrom syndrome; alms|Alström syndrome	http://purl.obolibrary.org/obo/MONDO_0008763	AlstrC6m syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction.	DOID:0050473|SNOMEDCT:63702009|ORPHA:64|NCIT:C84549|MEDDRA:10068783|UMLS:C0268425|MESH:D056769|http://identifiers.org/omim/203800
MONDO:0006102	basaloid carcinoma	biolink:Disease	mondo	ICDO:8123/3|NCIT:C4121|EFO:1000105		basaloid carcinoma	http://purl.obolibrary.org/obo/MONDO_0006102	A malignant epithelial neoplasm characterized by the presence of neoplastic cells with hyperchromatic nuclei, small amount of cytoplasm, and peripheral nuclear palisading.	NCIT:C4121
MONDO:0008762	autosomal recessive Alport syndrome	biolink:Disease	mondo	SCTID:717767009|OMIM:203780|MedDRA:10001843|DOID:0110033|GARD:0000625|ICD10:Q87.8|Orphanet:88919	gard_rare|ordo_etiological_subtype	Alport syndrome, autosomal recessive|Alport syndrome autosomal recessive|Alport syndrome recessive type|nephropathy and deafness	http://purl.obolibrary.org/obo/MONDO_0008762	Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed.	UMLS:C1567744|MESH:C536587|DOID:0110033|SNOMEDCT:717767009|MEDDRA:10001843|ORPHA:88919|http://identifiers.org/omim/203780
MONDO:0008761	obsolete alpha-2-deficient collagen disease	biolink:Disease	mondo	GARD:0003454|GARD:0000616|MESH:C565963|UMLS:C1859850|OMIM:203760		alpha-2-deficient collagen disease|Meigel disease	http://purl.obolibrary.org/obo/MONDO_0008761		MESH:C565963|UMLS:C1859850|http://identifiers.org/omim/203760
MONDO:0006100	obsolete Bartholin gland carcinoma (disease)	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006100		
MONDO:0008760	beta-ketothiolase deficiency	biolink:Disease	mondo	MESH:C535434|DOID:14723|ICD10:E71.1|GARD:0000872|NCIT:C98841|Orphanet:134|OMIM:203750	ordo_disease	2-methyl-3-hydroxybutyricacidemia|alpha-methylacetoaceticaciduria|mitochondrial acetoacetyl-CoA thiolase deficiency|Alpha methylacetoacetic aciduria|T2 deficiency|Beta ketothiolase deficiency|3-oxothiolase deficiency|mitochondrial acetoacetyl-coenzyme A thiolase deficiency|3-ketothiolase deficiency|Alpha-methyl-acetoacetyl-CoA thiolase deficiency|2-Methyl-3-hydroxybutyric acidemia|mitochondrial acetoacetyl-Coa thiolase deficiency|beta-ketothiolase deficiency|peroxisomal thiolase deficiency|BKT|Mat deficiency|3-Ktd deficiency|ALPHA-methylacetoacetic aciduria	http://purl.obolibrary.org/obo/MONDO_0008760	Beta-ketothiolase (T2) deficiency is a rare organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence.	DOID:14723|MESH:C535434|NCIT:C98841|ORPHA:134|http://identifiers.org/omim/203750
CHEBI:29101	sodium(1+)	biolink:ChemicalSubstance	mondo			sodium(1+) ion|Na+|sodium(I) cation|sodium(1+)|Na(+)|SODIUM ION|sodium cation	http://purl.obolibrary.org/obo/CHEBI_29101	A monoatomic monocation obtained from sodium.	
UBERON:0005386	olfactory segment of nasal mucosa	biolink:AnatomicalEntity	mondo			pars olfactoria tunicae mucosae nasi|olfactory part of nasal mucosa|pars olfactoria tunicae mucosae nasi|olfactory mucosa|olfactory area of nasal mucosa|olfactory zone of nasal mucosa	http://purl.obolibrary.org/obo/UBERON_0005386	That portion of the nasal mucosa containing the sensory endings for olfaction; the organ of smell[MESH].	
HGNC:1152	BVES	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1152		
UBERON:0005384	nasal cavity epithelium	biolink:AnatomicalEntity	mondo			nasal epithelium|nasal mucosa	http://purl.obolibrary.org/obo/UBERON_0005384	An epithelium that lines the nasal cavity.	
UBERON:0005381	dentate gyrus granule cell layer	biolink:AnatomicalEntity	mondo			granular layer of the dentate gyrus|DG granule cell layer|stratum granulare gyri dentati|dentate gyrus, granule cell layer|granular layer of dentate gyrus	http://purl.obolibrary.org/obo/UBERON_0005381	Granule cell layer is also called the DG principal cell layer. This one of the three layers of dentate gyrus that lies deep to the molecular layer and is made of densely packed layer that is four to eight granule cells thick.	
CHEBI:78113	fatty acid anion 3:0	biolink:ChemicalSubstance	mondo			fatty acid 3:0	http://purl.obolibrary.org/obo/CHEBI_78113	Any saturated fatty acid anion containing 3 carbons. Formed by deprotonation of the carboxylic acid moiety. Major species at pH 7.3.	
FOODON:03414374	bovine	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03414374	The biological subfamily *Bovinae* includes a diverse group of 10 genera of medium- to large-sized ungulates, including domestic cattle, the bison, African buffalo, the water buffalo, the yak, and the four-horned and spiral-horned antelopes. The evolutionary relationship between the members of the group is obscure, and their classification into loose tribes rather than formal subgroups reflects this uncertainty. General characteristics include cloven hoofs and usually at least one of the sexes of a species having true horns.	
HP:0001097	Keratoconjunctivitis sicca	biolink:PhenotypicFeature	mondo	UMLS:C0043349|MSH:D007638|MSH:D014985|UMLS:C0013238|UMLS:C2930821|UMLS:C0022575|SNOMEDCT_US:363677007|MSH:D015352|MSH:C531719|SNOMEDCT_US:46152009|SNOMEDCT_US:302896008	hposlim_core	Dry eyes|Keratitis sicca|Dry eye syndrome|Xerophthalmia	http://purl.obolibrary.org/obo/HP_0001097	Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.	
HP:0001098	Abnormal fundus morphology	biolink:PhenotypicFeature	mondo	UMLS:C4025804		Abnormality of the fundus	http://purl.obolibrary.org/obo/HP_0001098	Any structural abnormality of the fundus of the eye.	
UBERON:0005389	transparent eye structure	biolink:AnatomicalEntity	mondo			lens	http://purl.obolibrary.org/obo/UBERON_0005389	A transparent structure that is part of a visual sense organ, the function of which is to direct or focus light onto a photoreceptor array.	
UBERON:0005388	photoreceptor array	biolink:AnatomicalEntity	mondo			light-sensitive tissue	http://purl.obolibrary.org/obo/UBERON_0005388	An array of photoreceptors and any supporting cells found in an eye.	
MONDO:0021718	polyneuritis	biolink:Disease	mondo	GTR:AN1353837|HP:0031003|SCTID:76886005|NCIT:C26864|GTR:AN1355640|UMLS:C0032541		polyneuritis|Polyneuritides|Multiple neuritis|Inflammatory polyneuropathy|Polyneuritis|inflammatory polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0021718	Inflammation of several peripheral nerves.	SNOMEDCT:76886005|NCIT:C26864|UMLS:C0032541
HP:0001096	Keratoconjunctivitis	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:88151007|MSH:D007637|UMLS:C0022573	hposlim_core		http://purl.obolibrary.org/obo/HP_0001096	Inflammation of the cornea and conjunctiva.	
MONDO:0008739	agenesis of cerebral white matter	biolink:Disease	mondo	OMIM:202600		agenesis of cerebral white matter	http://purl.obolibrary.org/obo/MONDO_0008739		http://identifiers.org/omim/202600
MONDO:0008738	aganglionosis, total intestinal	biolink:Disease	mondo	OMIM:202550|NCIT:C101074	n_of_one	aganglionosis, total intestinal|total intestinal aganglionosis|total intestinal aganglionosis	http://purl.obolibrary.org/obo/MONDO_0008738	A complete lack of ganglia in the intestine. This is an extremely severe form of aganglionosis distinct from Hirschsprung Disease.	http://identifiers.org/omim/202550|NCIT:C101074
MONDO:0008737	congenital afibrinogenemia	biolink:Disease	mondo	ICD10:D68.2|NCIT:C98130|GARD:0005761|DOID:2236|SCTID:154818001|Orphanet:98880|MESH:D000347|OMIM:202400	ordo_clinical_subtype	afibrinogenemia, congenital|hypofibrinogenemia, congenital|factor I deficiency|fibrinogen deficiency|afibrinogenemia congenital|familial afibrinogenemia|afibrinogenemia	http://purl.obolibrary.org/obo/MONDO_0008737	Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen.	MESH:D000347|http://identifiers.org/omim/202400|ORPHA:98880|NCIT:C98130|DOID:2236|SNOMEDCT:154818001
MONDO:0008736	peroxisome biogenesis disorder 2B	biolink:Disease	mondo	DOID:0080622|OMIM:202370|UMLS:C3550234		peroxisome biogenesis disorder 2B|peroxisome biogenesis disorder type 2B|PBD2B|peroxisome biogenesis disorder 2B; PBD2B	http://purl.obolibrary.org/obo/MONDO_0008736		UMLS:C3550234|http://identifiers.org/omim/202370|DOID:0080622
MONDO:0008735	adrenocortical unresponsiveness to ACTH with postreceptor defect	biolink:Disease	mondo	OMIM:202355|MESH:C565971|UMLS:C1859971		familial glucocorticoid deficiency due to defect distal to ACTH receptor|adrenocortical unresponsiveness to ACTH with postreceptor defect	http://purl.obolibrary.org/obo/MONDO_0008735		UMLS:C1859971|http://identifiers.org/omim/202355|MESH:C565971
MONDO:0008734	adrenocortical carcinoma, hereditary	biolink:Disease	mondo	OMIM:202300|UMLS:C1859972		adrenocortical carcinoma, hereditary; ADCC|hereditary adrenal cortex carcinoma|ADCC|adrenocortical carcinoma, hereditary|adrenocortical carcinoma, pediatric	http://purl.obolibrary.org/obo/MONDO_0008734	An instance of adrenal cortex carcinoma that is caused by an inherited modification of the individual's genome.	UMLS:C1859972|http://identifiers.org/omim/202300
MONDO:0008733	familial glucocorticoid deficiency	biolink:Disease	mondo	DOID:0080620|MESH:C565974|Orphanet:361|SCTID:765326001|GARD:0002498|OMIMPS:202200|UMLS:CN204661|NCIT:C120446|ICD10:E27.1	gard_rare|ordo_disease	glucocorticoid deficiency|GCCD	http://purl.obolibrary.org/obo/MONDO_0008733	Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency.	SNOMEDCT:765326001|DOID:0080620|NCIT:C120446|ORPHA:361|MESH:C565974|UMLS:CN204661
MONDO:0008732	adrenal hypoplasia, cytomegalic type	biolink:Disease	mondo	OMIM:202155|UMLS:C1859977		adrenal hypoplasia, cytomegalic type	http://purl.obolibrary.org/obo/MONDO_0008732		UMLS:C1859977|http://identifiers.org/omim/202155
MONDO:0008731	familial adrenal hypoplasia with absent pituitary luteinizing hormone	biolink:Disease	mondo	MESH:C565976|Orphanet:95700|OMIM:202150|ICD10:E27.1|UMLS:C1859978	ordo_disease	familial adrenal hypoplasia, miniature type|familial adrenal hypoplasia with absent pituitary LH|adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone	http://purl.obolibrary.org/obo/MONDO_0008731		UMLS:C1859978|http://identifiers.org/omim/202150|MESH:C565976|ORPHA:95700
MONDO:0008730	congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	biolink:Disease	mondo	OMIM:202110|Orphanet:90793|ICD10:E25.0|SCTID:124220008|ICD9:277.6|GARD:0001469	ordo_disease	adrenal hyperplasia 5|17,20-lyase deficiency, isolated|17-Alpha-Hydroxylase deficiency|17-Alpha-Hydroxylase/17,20-lyase deficiency, combined complete|CAH due to 17-alpha-hydroxylase deficiency|17-Alpha-Hydroxylase/17,20-lyase deficiency, combined partial|congenital adrenal hyperplasia type 5|combined 17-hydroxylase/17,20-lyase deficiency|adrenal hyperplasia, congenital, due to 17-ALPHA-HYDROXYLASE deficiency	http://purl.obolibrary.org/obo/MONDO_0008730	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension.	http://identifiers.org/omim/202110|ORPHA:90793|SNOMEDCT:124220008
UBERON:0005375	spinal cord ventral column	biolink:AnatomicalEntity	mondo			spinal cord anterior column|ventral column|anterior column	http://purl.obolibrary.org/obo/UBERON_0005375	the area of white matter of the spinal cord located on either side of the ventral (anterior) medial fissure	
HGNC:1160	TWNK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1160		
HGNC:1161	CEP55	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1161		
MONDO:0021702	alcohol amnestic disorder	biolink:Disease	mondo	EFO:1001759|MESH:D000425|SCTID:73097000		syndromes, alcoholic Korsakoff|psychoses, alcohol-induced amnestic|Korsakoff syndromes, alcoholic|amnestic psychosis, alcohol-induced|alcohol amnestic syndromes|alcohol-induced Dysmnesic psychoses|alcohol amnestic syndrome|alcohol-induced amnestic syndrome|Dysmnesic syndromes, alcohol-induced|alcohol induced Dysmnesic syndrome|alcohol-induced Korsakoff syndromes|syndrome, alcohol-induced Dysmnesic|Dysmnesic syndrome, alcohol-induced|amnestic psychosis, alcohol induced|syndromes, alcohol-induced Dysmnesic|alcohol-induced amnestic psychoses|amnestic psychoses, alcohol-induced|psychosis, alcohol-induced amnestic|alcohol-induced Dysmnesic psychosis|alcohol-induced Dysmnesic syndrome|alcohol induced amnestic syndrome|alcohol induced amnestic psychosis|alcohol-induced amnestic psychosis|amnestic syndromes, alcohol|alcohol induced Dysmnesic psychosis|alcoholic Korsakoff syndromes|amnestic disorders, alcohol|Dysmnesic psychosis, alcohol-induced|alcoholic Korsakoff syndrome|amnestic syndromes, alcohol-induced|syndrome, alcohol-induced Korsakoff|amnestic disorder, alcohol|Korsakoff syndrome, alcohol-induced|syndromes, alcohol-induced amnestic|Korsakoff syndromes, alcohol-induced|alcohol induced Korsakoff syndrome|syndromes, alcohol-induced Korsakoff|psychosis, alcohol-induced Dysmnesic|amnestic syndrome, alcohol|alcohol-induced Dysmnesic syndromes|syndrome, alcohol-induced amnestic|syndromes, alcohol amnestic|amnestic syndrome, alcohol-induced|alcohol induced persisting amnestic disorder|syndrome, alcohol amnestic|Dysmnesic psychoses, alcohol-induced|alcohol-induced Korsakoff syndrome|alcohol-induced amnestic syndromes|psychoses, alcohol-induced Dysmnesic|alcohol amnestic disorders|Korsakoff syndrome, alcoholic|alcohol-induced persisting amnestic disorder|syndrome, alcoholic Korsakoff	http://purl.obolibrary.org/obo/MONDO_0021702	A mental disorder associated with chronic ethanol abuse (ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention. (Adams et al., Principles of Neurology, 6th ed, p1139)	SNOMEDCT:73097000|MESH:D000425
HP:0025031	Abnormality of the digestive system	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0025031		
HP:0025032	Abnormality of digestive system physiology	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0025032	A functional anomaly of the digestive system.	
FOODON:03414381	bovid	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03414381	A bovid (family *Bovidae*) is any of almost 140 species of cloven-hoofed, ruminant mammal which has males with characteristic unbranching horns covered in a permanent sheath of keratin.  The family is widespread, being native to Asia, Africa, Europe and North America, and diverse: members include bison, African buffalo, water buffalo, antelopes, gazelles, sheep, goats, muskoxen, and domestic cattle.	
HP:0025033	Abnormality of digestive system morphology	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0025033	A structural anomaly of the digestive system.	
MONDO:0008749	pseudohypoparathyroidism type 2	biolink:Disease	mondo	UMLS:C2932717|UMLS:CN206737|ICD10:E20.1|Orphanet:94090|OMIM:203330|GARD:0010682|SCTID:42183005|MESH:C548077|ICD9:275.49	gard_rare|ordo_disease	Php 2|pseudohypoparathyroidism, type II|PHP II|PHP2|pseudohypoparathyroidism, type II; PHP2	http://purl.obolibrary.org/obo/MONDO_0008749	Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response.	SNOMEDCT:42183005|http://identifiers.org/omim/203330|UMLS:C0271870|MESH:C548077|UMLS:CN206737|ORPHA:94090|UMLS:C2932717
MONDO:0008748	Hermansky-Pudlak syndrome 1	biolink:Disease	mondo	MESH:C538539|OMIM:203300|NCIT:C150367|UMLS:C2931875|DOID:0060539		Hermansky-Pudlak syndrome caused by mutation in HPS1|albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells|Hermansky-Pudlak syndrome type 1|Hermansky-Pudlak syndrome 1|HPS1|Delta storage pool disease|Hermansky-Pudlak syndrome 1; HPS1|HPS1 Hermansky-Pudlak syndrome	http://purl.obolibrary.org/obo/MONDO_0008748	Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene.	MESH:C538539|NCIT:C150367|http://identifiers.org/omim/203300|DOID:0060539|UMLS:C2931875
MONDO:0008747	oculocutaneous albinism type 3	biolink:Disease	mondo	MESH:C537731|ICD9:270.2|Orphanet:79433|SCTID:63450009|DOID:0070097|ICD10:E70.3|GARD:0004039|OMIM:203290|GARD:0009641	gard_rare|ordo_disease	OCA3|rufous oculocutaneous albinism|albinism, oculocutaneous, type III; OCA3|Xanthism|albinism, oculocutaneous, type III|TYRP1 oculocutaneous albinism|albinism, oculocutaneous, type 3|ROCA|oculocutaneous albinism type III|albinism 3|xanthous oculocutaneous albinism|oculocutaneous albinism caused by mutation in TYRP1|rufous OCA|Red oculocutaneous albinism|oculocutaneous albinism, type 3	http://purl.obolibrary.org/obo/MONDO_0008747	Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population.	http://identifiers.org/omim/203290|MESH:C537189|SNOMEDCT:63450009|MESH:C537731|ORPHA:79433|UMLS:C0342683|UMLS:C2931599|DOID:0070097
MONDO:0008746	oculocutaneous albinism type 2	biolink:Disease	mondo	UMLS:C0268495|Orphanet:79432|OMIM:203200|MESH:C537730|GARD:0004038|ICD10:E70.3|DOID:0070096	gard_rare|ordo_disease	Brown oculocutaneous albinism|albinism 2|albinism, Brown oculocutaneous|Albinoidism|oculocutaneous albinism, type 2|OCA2|oculocutaneous albinism tyrosinase positive|albinism, oculocutaneous, type 2|tyrosinase-positive oculocutaneous albinism|oculocutaneous albinism type II|oculocutaneous albinism, tyrosinase-positive|albinism, oculocutaneous, type II; OCA2|albinism, oculocutaneous, type II	http://purl.obolibrary.org/obo/MONDO_0008746	Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm.	http://identifiers.org/omim/203200|MESH:C537730|ORPHA:79432|DOID:0070096|UMLS:C0268495
MONDO:0008745	oculocutaneous albinism type 1A	biolink:Disease	mondo	Orphanet:79431|ICD9:270.2|SCTID:6483008|OMIM:203100|ICD10:E70.3|DOID:0070094	ordo_clinical_subtype	TYR oculocutaneous albinism|oculocutaneous albinism, tyrosinase-negative|albinism 1|Tyr oculocutaneous albinism|oculocutaneous albinism type IA|albinism, oculocutaneous, type IA|tyrosinase-negative oculocutaneous albinism|albinism, oculocutaneous, type 1A|oculocutaneous albinism, type 1|oculocutaneous albinism caused by mutation in TYR|oculocutaneous albinism caused by mutation in Tyr|OCA1A|albinism, oculocutaneous, type IA; OCA1A	http://purl.obolibrary.org/obo/MONDO_0008745	Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.	http://identifiers.org/omim/203100|SNOMEDCT:6483008|ORPHA:79431|DOID:0070094
MONDO:0008744	alar cartilages hypoplasia-coloboma-telecanthus syndrome	biolink:Disease	mondo	OMIM:203000|MESH:C535967|GARD:0000588|Orphanet:2007|ICD10:Q75.8|UMLS:C1859964	ordo_malformation_syndrome	frontonasal dysplasia with alar clefts|alar-nasal cartilages, coloboma of, with telecanthus|coloboma of alar-nasal cartilages with telecanthus	http://purl.obolibrary.org/obo/MONDO_0008744	Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976.	UMLS:C1859964|http://identifiers.org/omim/203000|MESH:C535967|ORPHA:2007
MONDO:0008743	Stimmler syndrome	biolink:Disease	mondo	Orphanet:3199|UMLS:C1859965|SCTID:733072002|OMIM:202900|MESH:C565968|GARD:0005026	ordo_malformation_syndrome	ALANINURIA with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus|Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus|Stimmler syndrome	http://purl.obolibrary.org/obo/MONDO_0008743	Stimmler syndrome is characterised by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood.	http://identifiers.org/omim/202900|MESH:C565968|SNOMEDCT:733072002|ORPHA:3199|UMLS:C1859965
NCBITaxon:41165	Schizopyrenida	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_41165		
MONDO:0008742	autosomal dominant severe congenital neutropenia	biolink:Disease	mondo	UMLS:C1859966|Orphanet:486|GARD:0009558|ICD10:D70	ordo_disease|gard_rare	severe congenital neutropenia autosomal dominant|severe congenital neutropenia, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008742	Autosomal dominant form of severe congenital neutropenia.	ORPHA:486|UMLS:C1859966
MONDO:0008741	PAGOD syndrome	biolink:Disease	mondo	GARD:0003086|OMIM:202660|MESH:C537018|SCTID:722132007|UMLS:C1859967|ICD10:Q87.8|Orphanet:991	ordo_malformation_syndrome	Kennerknecht sorgo Oberhoffer syndrome|pulmonary hypoplasia, hypoplasia of the pulmonary artery, agonadism, omphalocele-diaphragmatic defect, and dextrocardia|pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome|agonadism with multiple internal malformations|PAGOD syndrome	http://purl.obolibrary.org/obo/MONDO_0008741	PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies.	http://identifiers.org/omim/202660|ORPHA:991|SNOMEDCT:722132007|UMLS:C1859967|MESH:C537018
MONDO:0008740	agnathia-otocephaly complex	biolink:Disease	mondo	OMIM:202650|SCTID:48180002|DOID:0060341|ICD10:Q18.2|ICD9:759.89|GARD:0009126|NCIT:C124568|Orphanet:990|UMLS:CN207252|ICD10:Q87.8	ordo_malformation_syndrome	otocephaly|agnathia-holoprosencephaly|holoprosencephaly-agnathia|AGOTC|agnathia-holoprosencephaly-situs inversus syndrome|agnathia-otocephaly complex|agnathia-otocephaly complex; AGOTC|dysgnathia complex agnathia-holoprosencephaly|Dysgnathia Complex agnathia-holoprosencephaly	http://purl.obolibrary.org/obo/MONDO_0008740	Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.	http://identifiers.org/omim/202650|UMLS:CN207252|ORPHA:990|DOID:0060341|SNOMEDCT:48180002|NCIT:C124568
UBERON:0005363	inferior vagus X ganglion	biolink:AnatomicalEntity	mondo			inferior ganglion of vagus|ganglion nodosum|vagus X inferior ganglion|ganglion inferius nervus vagi|inferior ganglion of vagus nerve|nodose ganglia|vagus nerve nodose ganglion|ganglion inferius nervi vagi|vagus nerve inferior ganglion|inferior vagus X|tenth cranial nerve nodose ganglion|ganglion inferius (nervus vagus)|inferior vagus ganglion|nodose ganglion	http://purl.obolibrary.org/obo/UBERON_0005363	the large group of sensory neuron cell bodies, anterior to the jugular vein, associated with the vagus nerve (tenth cranial nerve)	
HGNC:1171	ELP4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1171		
UBERON:0005362	vagus X ganglion	biolink:AnatomicalEntity	mondo			right glossopharyngeal ganglion|vagus X|ganglion of vagus nerve|vagus neural ganglion|vagal ganglion|gX|vagus ganglion	http://purl.obolibrary.org/obo/UBERON_0005362	the group of sensory neuron cell bodies associated with the vagus nerve	
HP:0001072	Thickened skin	biolink:PhenotypicFeature	mondo	MEDDRA:10040936|UMLS:C0334008|SNOMEDCT_US:69943009|SNOMEDCT_US:17417006|UMLS:C4020878	hposlim_core	Thickened skin|Diffusely thickened skin|Pachydermia|Thick skin	http://purl.obolibrary.org/obo/HP_0001072	Laminar thickening of skin.	
UBERON:0005366	olfactory lobe	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005366	The lobe at the anterior part of each cerebral hemisphere, responsible for olfactory functions.	
GO:0031503	protein-containing complex localization	biolink:OntologyClass	mondo			protein complex localization|establishment and maintenance of protein complex localization|protein complex localisation	http://purl.obolibrary.org/obo/GO_0031503	A localization process that acts on a protein complex; the complex is transported to, or maintained in, a specific location.	
GO:0006547	histidine metabolic process	biolink:OntologyClass	mondo			histidine metabolism	http://purl.obolibrary.org/obo/GO_0006547	The chemical reactions and pathways involving histidine, 2-amino-3-(1H-imidazol-4-yl)propanoic acid.	
GO:0006544	glycine metabolic process	biolink:OntologyClass	mondo			glycine metabolism	http://purl.obolibrary.org/obo/GO_0006544	The chemical reactions and pathways involving glycine, aminoethanoic acid.	
GO:0006541	glutamine metabolic process	biolink:OntologyClass	mondo			glutamine metabolism	http://purl.obolibrary.org/obo/GO_0006541	The chemical reactions and pathways involving glutamine, 2-amino-4-carbamoylbutanoic acid.	
HP:0003621	Juvenile onset	biolink:PhenotypicFeature	mondo	UMLS:C4025588		Signs and symptoms begin before 15 years of age	http://purl.obolibrary.org/obo/HP_0003621	Onset of signs or symptoms of disease between the age of 5 and 15 years.	
HP:0003623	Neonatal onset	biolink:PhenotypicFeature	mondo	UMLS:C1855106		Onset in first weeks of life|Onset in neonatal period|Neonatal onset	http://purl.obolibrary.org/obo/HP_0003623	Onset of signs or symptoms of disease within the first 28 days of life.	
PATO:0001291	electromagnetic (EM) radiation quality	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0001291	A physical quality that inheres in an bearer by virtue of how that bearer interacts with electromagnetic radiation.	
GO:0006558	L-phenylalanine metabolic process	biolink:OntologyClass	mondo			phenylalanine metabolic process|phenylalanine metabolism|L-phenylalanine metabolism	http://purl.obolibrary.org/obo/GO_0006558	The chemical reactions and pathways involving L-phenylalanine, the L-enantiomer of 2-amino-3-phenylpropanoic acid, i.e. (2S)-2-amino-3-phenylpropanoic acid.	
GO:0006555	methionine metabolic process	biolink:OntologyClass	mondo			methionine and threonine metabolism|methionine metabolism|methionine and threonine metabolic process	http://purl.obolibrary.org/obo/GO_0006555	The chemical reactions and pathways involving methionine (2-amino-4-(methylthio)butanoic acid), a sulfur-containing, essential amino acid found in peptide linkage in proteins.	
BSPO:0001101	in_deep_part_of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BSPO_0001101	X superficial_part_of Y <=> if Y is subdivided into two superficial and deep portions, X is part_of the deep portion.	
BSPO:0001106	proximalmost_part_of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BSPO_0001106	X proximalmost_part_of Y <=> X is part_of Y and X is adjacent_to the proximal boundary of Y	
GO:0006520	cellular amino acid metabolic process	biolink:OntologyClass	mondo			cellular amino acid and derivative metabolic process|amino acid and derivative metabolism|cellular amino acid metabolism|amino acid metabolic process	http://purl.obolibrary.org/obo/GO_0006520	The chemical reactions and pathways involving amino acids, carboxylic acids containing one or more amino groups, as carried out by individual cells.	
GO:0006521	regulation of cellular amino acid metabolic process	biolink:OntologyClass	mondo			regulation of amino acid metabolism	http://purl.obolibrary.org/obo/GO_0006521	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving amino acids.	
BSPO:0001107	immediately_deep_to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BSPO_0001107	This relation holds when both the deep_to and ajdacent_to relationship similarly hold.	
BSPO:0001108	distalmost_part_of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BSPO_0001108	X distalmost_part_of Y <=> X is part_of Y and X is adjacent_to the distal boundary of Y	
UBERON:0007914	bone of craniocervical region	biolink:AnatomicalEntity	mondo			head or neck bone|cranial bone	http://purl.obolibrary.org/obo/UBERON_0007914	A bone that is part of a craniocervical region.	
HGNC:3700	FH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3700		
BSPO:0001113	preaxialmost_part_of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BSPO_0001113		
HGNC:3706	ATP8B1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3706		
HGNC:3705	FIBP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3705		
HGNC:3702	FHL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3702		
BSPO:0001115	postaxialmost_part_of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BSPO_0001115		
GO:0006506	GPI anchor biosynthetic process	biolink:OntologyClass	mondo			GPI anchor formation|glycosylphosphatidylinositol biosynthetic process|glycosylphosphatidylinositol biosynthesis|GPI anchor anabolism|GPI/GSI anchor biosynthetic process|GPI/GSI anchor biosynthesis|GPI anchor synthesis|GPI anchor biosynthesis	http://purl.obolibrary.org/obo/GO_0006506	The chemical reactions and pathways resulting in the formation of a glycosylphosphatidylinositol (GPI) anchor that attaches some membrane proteins to the lipid bilayer of the cell membrane. The phosphatidylinositol group is linked via the C-6 hydroxyl residue of inositol to a carbohydrate chain which is itself linked to the protein via an ethanolamine phosphate group, its amino group forming an amide linkage with the C-terminal carboxyl of the protein. Some GPI anchors have variants on this canonical linkage.	
MONDO:0043083	coronal synostosis, syndactyly and jejunal atresia	biolink:Disease	mondo	GARD:0001532|MESH:C536445|UMLS:C2931194	gard_rare	asymmetrical coronal synostosis, cutaneous syndactyly of the fingers and toes, and jejunal atresia	http://purl.obolibrary.org/obo/MONDO_0043083		MESH:C536445|UMLS:C2931194
GO:0006505	GPI anchor metabolic process	biolink:OntologyClass	mondo			GPI anchor metabolism|glycosylphosphatidylinositol metabolic process|GPI/GSI anchor metabolic process|glycosylphosphatidylinositol metabolism|GPI/GSI anchor metabolism	http://purl.obolibrary.org/obo/GO_0006505	The chemical reactions and pathways involving glycosylphosphatidylinositol anchors, molecular mechanisms for attaching membrane proteins to the lipid bilayer of cell membranes. Structurally they consist of a molecule of phosphatidylinositol to which is linked, via the C-6 hydroxyl of the inositol, a carbohydrate chain. This chain is in turn linked to the protein through an ethanolamine phosphate group, the amino group of which is in amide linkage with the C-terminal carboxyl of the protein chain, the phosphate group being esterified to the C-6 hydroxyl of the terminal mannose of the core carbohydrate chain.	
MONDO:0043085	chromosome 1, uniparental disomy 1q12 q21	biolink:Disease	mondo	UMLS:CN035970|GARD:0001878|MESH:C538085	gard_rare	uniparental disomy 1q12 q21|Mosaic trisomy 1q12 q21	http://purl.obolibrary.org/obo/MONDO_0043085		UMLS:CN035970|MESH:C538085
UBERON:0005309	pronephric nephron	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005309	A pronephric nephron is the functional unit of the pronephros[GO].	
MONDO:0043087	thickened earlobes with conductive deafness from incus-stapes abnormalities	biolink:Disease	mondo	UMLS:C2931222|MESH:C536511|GARD:0002034	gard_rare	Schweitzer Kemink Graham syndrome|conductive hearing loss, middle ear ossicular anomalies, malformed thickened lop auricles, and micrognathia|thickened earlobes with conductive deafness from incus-stapes abnormalities	http://purl.obolibrary.org/obo/MONDO_0043087		MESH:C536511|UMLS:C2931222
MONDO:0043089	acute posterior multifocal placoid pigment epitheliopathy	biolink:Disease	mondo	UMLS:C0154884|SCTID:89188001|GARD:0002183	gard_rare	apmppe|multifocal placoid pigment epitheliopathy|pigment epitheliopathy, disseminated retinitis and retinochoroiditis|epitheliopathy, acute posterior multifocal placoid pigment|acute placoid pigment epitheliopathy|AMPPE|APMPPE|acute multifocal placoid pigment epitheliopathy|amppe - acute multifocal placoid pigment epitheliopathy|acute posterior multifocal placoid pigment epitheliopathy	http://purl.obolibrary.org/obo/MONDO_0043089	Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is an acquired, inflammatory eye condition affecting the retina, retinal pigment epithelium (pigmented layer of the retina), and choroid. It usually affects both eyes and is characterized by multiple, yellow-white lesions in the back of the eye. The condition can significantly impair visual acuity if the macula is involved. APMPPE typically resolves on its own in weeks to months. While the cause is unknown, about a third of cases appear to develop after a flu-like illness. Non-ocular symptoms are uncommon, but cerebral vasculitis can be present and may cause permanent and/or severe neurological complications.	UMLS:C0154884|SNOMEDCT:89188001
UBERON:0005310	pronephric nephron tubule	biolink:AnatomicalEntity	mondo			ciliated neck segment|pronephric tubule	http://purl.obolibrary.org/obo/UBERON_0005310	The pronephric nephron tubule is an epithelial tube that is part of the pronephric nephron and connects the filtration unit (glomerulus or glomus) of the pronephros to the pronephric duct[GO].	
HP:0001000	Abnormality of skin pigmentation	biolink:PhenotypicFeature	mondo	UMLS:C1260926	hposlim_core	Abnormal skin color|Abnormality of pigmentation|Pigmentary skin changes|Abnormal pigmentation|Pigmentary changes|Abnormal skin pigmentation|Abnormality of skin pigmentation|Pigmentation anomaly	http://purl.obolibrary.org/obo/HP_0001000	An abnormality of the pigmentation of the skin.	
HP:0001004	Lymphedema	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:30213001|SNOMEDCT_US:234097001|MSH:D008209|UMLS:C0240278|UMLS:C0024236|UMLS:C1835229		Onset of lymphedema around puberty|Lymphatic obstruction|Swelling caused by excess lymph fluid under skin|Lymphoedema	http://purl.obolibrary.org/obo/HP_0001004	Localized fluid retention and tissue swelling caused by a compromised lymphatic system.	
HP:0001005	Dermatological manifestations of systemic disorders	biolink:PhenotypicFeature	mondo	UMLS:C4025812	secondary_consequence		http://purl.obolibrary.org/obo/HP_0001005		
UBERON:0005317	pulmonary artery endothelium	biolink:AnatomicalEntity	mondo			pulmonary artery endothelial tube	http://purl.obolibrary.org/obo/UBERON_0005317	An pulmonary artery endothelium is an epithelium that lines the pulmonary artery[GO].	
HGNC:3721	FKBP5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3721		
UBERON:0005316	endocardial endothelium	biolink:AnatomicalEntity	mondo			endothelium of endocardium|endocardium endothelium	http://purl.obolibrary.org/obo/UBERON_0005316	The endothelial lining of the endocardium.	
GO:0006508	proteolysis	biolink:OntologyClass	mondo			peptidolysis|ATP-dependent proteolysis	http://purl.obolibrary.org/obo/GO_0006508	The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds.	
CHEBI:4551	digoxin	biolink:ChemicalSubstance	mondo			digoxin|(3beta,5beta,12beta)-3-{[2,6-dideoxy-beta-D-ribo-hexopyranosyl-(1->4)-2,6-dideoxy-beta-D-ribo-hexopyranosyl-(1->4)-2,6-dideoxy-beta-D-ribo-hexopyranosyl]oxy}-12,14-dihydroxycard-20(22)-enolide|12beta-hydroxydigitoxin	http://purl.obolibrary.org/obo/CHEBI_4551	A  cardenolide glycoside that is digitoxin beta-hydroxylated at C-12. A cardiac glycoside extracted from the foxglove plant, Digitalis lanata, it is used to control ventricular rate in atrial fibrillation and in the management of congestive heart failure with atrial fibrillation, but the margin between toxic and therapeutic doses is small.	
UBERON:0005311	mammary placode	biolink:AnatomicalEntity	mondo			mammary anlage	http://purl.obolibrary.org/obo/UBERON_0005311	The mammary placode is a transient lens shaped structure that will give rise to the mammary bud proper[GO].	
GO:0006517	protein deglycosylation	biolink:OntologyClass	mondo			glycoprotein deglycosylation	http://purl.obolibrary.org/obo/GO_0006517	The removal of sugar residues from a glycosylated protein.	
MONDO:0043094	ichthyosis, follicular	biolink:Disease	mondo	SCTID:238627002|GARD:0002355	gard_rare	follicular ichthyosis	http://purl.obolibrary.org/obo/MONDO_0043094		SNOMEDCT:238627002
GO:0006518	peptide metabolic process	biolink:OntologyClass	mondo			peptide metabolism	http://purl.obolibrary.org/obo/GO_0006518	The chemical reactions and pathways involving peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another.	
MONDO:0043096	holoacardius amorphus	biolink:Disease	mondo	GARD:0002720|Orphanet:2161|SCTID:41049003	gard_rare	fetus anideus|Holoacardius amorphus|amorphus globosus|amorphous globosus	http://purl.obolibrary.org/obo/MONDO_0043096		SNOMEDCT:41049003|ORPHA:2161
NCBITaxon:2704647	Metakinetoplastina	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2704647		
MONDO:0043099	Hordnes Engebretsen Knudtson syndrome	biolink:Disease	mondo	MESH:C536067|UMLS:C2931100|GARD:0002736	gard_rare	acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and mental retardation|acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0043099		UMLS:C2931100|MESH:C536067
HP:0003674	Onset	biolink:PhenotypicFeature	mondo	UMLS:C0206132|MSH:D017668		Age symptoms begin|Age of onset	http://purl.obolibrary.org/obo/HP_0003674	The age group in which disease manifestations appear.	
CHEBI:29195	cyanate	biolink:ChemicalSubstance	mondo			[C(N)O](-)|OCN(-)|cyanate ion|Cyanat|cyanate|Zyanat|nitridooxidocarbonate(1-)	http://purl.obolibrary.org/obo/CHEBI_29195		
HP:0003679	Pace of progression	biolink:PhenotypicFeature	mondo	UMLS:C4025580			http://purl.obolibrary.org/obo/HP_0003679		
HP:0003677	Slow progression	biolink:PhenotypicFeature	mondo	UMLS:C1854494		Signs and symptoms worsen slowly with time|Slowly progressive|Slow disease progression|Slowly progressive disorder	http://purl.obolibrary.org/obo/HP_0003677		
UBERON:0005305	thyroid follicle	biolink:AnatomicalEntity	mondo			thyroid follicles|thyroid gland follicle	http://purl.obolibrary.org/obo/UBERON_0005305	Discrete, cystlike units of the thyroid gland that are lined with cuboidal epithelium and are filled with a colloid substance, about 30 to each lobule[BTO].	
HP:0001010	Hypopigmentation of the skin	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:18655006|SNOMEDCT_US:89031001|MSH:D017496|UMLS:C0162835|SNOMEDCT_US:201284005|SNOMEDCT_US:23006000		Hypopigmentation|Skin hypopigmentation|Patchy lightened skin|Hypopigmented skin	http://purl.obolibrary.org/obo/HP_0001010	A reduction of skin color related to a decrease in melanin production and deposition.	
HGNC:3748	FLG	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3748		
HGNC:3756	FLNC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3756		
HGNC:3755	FLNB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3755		
HGNC:3754	FLNA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3754		
GO:0016070	RNA metabolic process	biolink:OntologyClass	mondo			RNA metabolism	http://purl.obolibrary.org/obo/GO_0016070	The cellular chemical reactions and pathways involving RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage.	
GO:0065003	protein-containing complex assembly	biolink:OntologyClass	mondo			macromolecular complex assembly|chaperone activity|protein complex formation|macromolecule complex assembly|protein complex assembly	http://purl.obolibrary.org/obo/GO_0065003	The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex.	
GO:0065008	regulation of biological quality	biolink:OntologyClass	mondo			regulation of biological attribute|regulation of biological characteristic	http://purl.obolibrary.org/obo/GO_0065008	Any process that modulates a qualitative or quantitative trait of a biological quality. A biological quality is a measurable attribute of an organism or part of an organism, such as size, mass, shape, color, etc.	
GO:0065009	regulation of molecular function	biolink:OntologyClass	mondo			regulation of a molecular function	http://purl.obolibrary.org/obo/GO_0065009	Any process that modulates the frequency, rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding.	
GO:0004092	carnitine O-acetyltransferase activity	biolink:OntologyClass	mondo			carnitine acetyl coenzyme A transferase activity|carnitine acetyltransferase activity|acetylcarnitine transferase activity|carnitine O-acetyltransferase I activity|acetyl-CoA-carnitine O-acetyltransferase activity|CATC|acetyl-CoA:carnitine O-acetyltransferase activity|carnitine O-acetyltransferase II activity|carnitine-acetyl-CoA transferase activity|carnitine acetylase activity	http://purl.obolibrary.org/obo/GO_0004092	Catalysis of the reaction: acetyl-CoA + carnitine = (R)-O-acetylcarnitine + CoA.	
GO:0065007	biological regulation	biolink:OntologyClass	mondo			regulation	http://purl.obolibrary.org/obo/GO_0065007	Any process that modulates a measurable attribute of any biological process, quality or function.	
GO:0016068	type I hypersensitivity	biolink:OntologyClass	mondo			immediate hypersensitivity response	http://purl.obolibrary.org/obo/GO_0016068	An inflammatory response driven by antigen recognition by antibodies bound to Fc receptors on mast cells or basophils, occurring within minutes after exposure of a sensitized individual to the antigen, and leading to the release of a variety of inflammatory mediators such as histamines.	
GO:0016064	immunoglobulin mediated immune response	biolink:OntologyClass	mondo			antibody-mediated immune response	http://purl.obolibrary.org/obo/GO_0016064	An immune response mediated by immunoglobulins, whether cell-bound or in solution.	
GO:0016050	vesicle organization	biolink:OntologyClass	mondo			vesicle organisation|vesicle organization and biogenesis	http://purl.obolibrary.org/obo/GO_0016050	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a vesicle.	
PATO:0001236	process quality	biolink:OntologyClass	mondo			quality of a process|quality of process|relational quality of occurrent|quality of occurrent	http://purl.obolibrary.org/obo/PATO_0001236	A quality which inheres in an process.	
GO:0016042	lipid catabolic process	biolink:OntologyClass	mondo			lipolysis|lipid degradation|lipid catabolism|multicellular organism lipid catabolic process|lipid breakdown|multicellular organismal lipid catabolic process	http://purl.obolibrary.org/obo/GO_0016042	The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent.	
GO:0016043	cellular component organization	biolink:OntologyClass	mondo			cell organization and biogenesis|cellular component organisation in other organism|cellular component organisation at cellular level|cellular component organization in other organism|cell organisation|cellular component organization at cellular level	http://purl.obolibrary.org/obo/GO_0016043	A process that results in the assembly, arrangement of constituent parts, or disassembly of a cellular component.	
MONDO:0021582	lentigo	biolink:Disease	mondo	NCIT:C3159|SCTID:402624000		lentiginosis|lentigo	http://purl.obolibrary.org/obo/MONDO_0021582	A flat, benign, pigmented spot on the skin caused by excessive deposition of melanin from an increased number of melanocytes in the cell layer directly above the basement membrane of the epidermis. Formation is usually related to sun exposure during youth, and the lesions do not typically progress to malignancy.	SNOMEDCT:402624000|NCIT:C3159
MONDO:0021583	melanocytic skin neoplasm	biolink:Disease	mondo	NCIT:C7161|UMLS:C0349501		melanocytic skin neoplasm|melanocytic neoplasm of zone of skin|melanocytic neoplasm of skin|zone of skin melanocytic neoplasm|cutaneous melanocytic neoplasm	http://purl.obolibrary.org/obo/MONDO_0021583	A melanocytic neoplasm that involves the zone of skin.	NCIT:C7161|UMLS:C0349501
NCBITaxon:1402491	Pseudomonas aeruginosa CF5	organism taxon	mondo	GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_1402491		
MONDO:0021588	eyelid sebaceous gland carcinoma	biolink:Disease	mondo	NCIT:C134831|UMLS:C4525405		eyelid SGC|eyelid sebaceous gland carcinoma|carcinoma of sebaceous gland of eyelid|sebaceous gland carcinoma of the eyelid|sebaceous gland of eyelid carcinoma	http://purl.obolibrary.org/obo/MONDO_0021588	A sebaceous gland carcinoma affecting the eyelid. It arises from the meibomian glands, glands of Zeis, or glands associated with the caruncle. It usually affects elderly women and is characterized by high rate of local recurrence, regional, and distant metastases.	NCIT:C134831|UMLS:C4525405
MONDO:0021580	neoplasm of jaw	biolink:Disease	mondo	SCTID:126634001|ICD9:239.89		tumor of jaw skeleton|jaw skeleton neoplasm (disease)|neoplasm of jaw skeleton|jaw skeleton tumor|jaw skeleton neoplasm	http://purl.obolibrary.org/obo/MONDO_0021580	A neoplasm (disease) that involves the jaw skeleton.	SNOMEDCT:126634001
MONDO:0021581	connective tissue neoplasm	biolink:Disease	mondo	SCTID:126598008|MESH:D009372|UMLS:C0027656|ICD9:239.2		connective tissue tumor|connective tissue neoplasm|connective tissue neoplasms|tumor of connective tissue|tumour of connective tissue|neoplasm of connective tissues|neoplasm, connective tissue|neoplasm of connective tissue|connective tissue neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0021581	Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue.	SNOMEDCT:126598008|UMLS:C0027656|MESH:D009372
PATO:0001241	physical object quality	biolink:OntologyClass	mondo			multiply inhering quality of a physical entity|monadic quality of an object|quality of continuant|quality of a continuant|monadic quality of continuant|quality of a single physical entity|quality of an object|monadic quality of a continuant	http://purl.obolibrary.org/obo/PATO_0001241	A quality which inheres in a continuant.	
MONDO:0021579	neoplasm of femur	biolink:Disease	mondo	ICD9:239.2|SCTID:126583006		neoplasm of femur|femur tumor|femur neoplasm|tumor of femur|femur neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0021579	A neoplasm (disease) that involves the femur.	SNOMEDCT:126583006
GO:0016051	carbohydrate biosynthetic process	biolink:OntologyClass	mondo			carbohydrate formation|anabolic carbohydrate metabolic process|anabolic carbohydrate metabolism|carbohydrate anabolism|carbohydrate biosynthesis|carbohydrate synthesis	http://purl.obolibrary.org/obo/GO_0016051	The chemical reactions and pathways resulting in the formation of carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y.	
GO:0031670	cellular response to nutrient	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0031670	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nutrient stimulus.	
GO:0016052	carbohydrate catabolic process	biolink:OntologyClass	mondo			single-organism carbohydrate catabolic process|carbohydrate breakdown|carbohydrate catabolism|multicellular organismal carbohydrate catabolic process|carbohydrate degradation|catabolic carbohydrate metabolic process|catabolic carbohydrate metabolism	http://purl.obolibrary.org/obo/GO_0016052	The chemical reactions and pathways resulting in the breakdown of carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y.	
GO:0016053	organic acid biosynthetic process	biolink:OntologyClass	mondo			organic acid formation|organic acid anabolism|organic acid biosynthesis|organic acid synthesis	http://purl.obolibrary.org/obo/GO_0016053	The chemical reactions and pathways resulting in the formation of organic acids, any acidic compound containing carbon in covalent linkage.	
GO:0016054	organic acid catabolic process	biolink:OntologyClass	mondo			organic acid breakdown|organic acid catabolism|organic acid degradation	http://purl.obolibrary.org/obo/GO_0016054	The chemical reactions and pathways resulting in the breakdown of organic acids, any acidic compound containing carbon in covalent linkage.	
GO:0031669	cellular response to nutrient levels	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0031669	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of nutrients.	
GO:0031667	response to nutrient levels	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0031667	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of nutrients.	
GO:0031668	cellular response to extracellular stimulus	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0031668	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an extracellular stimulus.	
MONDO:0033559	intellectual developmental disorder with seizures and language delay	biolink:Disease	mondo	OMIM:619000		INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD	http://purl.obolibrary.org/obo/MONDO_0033559		http://identifiers.org/omim/619000
MONDO:0033558	autoinflammation, immune dysregulation, and eosinophilia	biolink:Disease	mondo	OMIM:618999		Atopic Dermatitis, Enteritis, Colitis, and Eosinophilia|AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE	http://purl.obolibrary.org/obo/MONDO_0033558		http://identifiers.org/omim/618999
HP:0003826	Stillbirth	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:237364002|MSH:D005313|UMLS:C0595939|SNOMEDCT_US:276507005|MSH:D050497|UMLS:C0015927		Stillbirth|Stillborn|Fetal death	http://purl.obolibrary.org/obo/HP_0003826	Death of the fetus in utero after at least 20 weeks of gestation.	
GO:0004046	aminoacylase activity	biolink:OntologyClass	mondo			L-aminoacylase activity|amido acid deacylase activity|histozyme activity|hippurase activity|dehydropeptidase II activity|N-acyl-L-amino-acid amidohydrolase activity|L-amino-acid acylase activity|acylase I activity|short acyl amidoacylase activity|long acyl amidoacylase activity|benzamidase activity|aminoacylase I activity|alpha-N-acylaminoacid hydrolase activity	http://purl.obolibrary.org/obo/GO_0004046	Catalysis of the reaction: an N-acyl-L-amino acid + H2O = a carboxylate + an L-amino acid.	
MONDO:0033560	mitochondrial complex 1 deficiency, nuclear type 35	biolink:Disease	mondo	OMIM:619003		MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35	http://purl.obolibrary.org/obo/MONDO_0033560		http://identifiers.org/omim/619003
MONDO:0033566	combined oxidative phosphorylation deficiency 48	biolink:Disease	mondo	OMIM:619012		COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48	http://purl.obolibrary.org/obo/MONDO_0033566		http://identifiers.org/omim/619012
MONDO:0033565	oocyte maturation defect 9	biolink:Disease	mondo	OMIM:619011		OOCYTE MATURATION DEFECT 9; OOMD9	http://purl.obolibrary.org/obo/MONDO_0033565		http://identifiers.org/omim/619011
MONDO:0033564	oocyte maturation defect 8	biolink:Disease	mondo	OMIM:619009		OOCYTE MATURATION DEFECT 8; OOMD8	http://purl.obolibrary.org/obo/MONDO_0033564		http://identifiers.org/omim/619009
MONDO:0033563	retinitis pigmentosa 90	biolink:Disease	mondo	OMIM:619007		RETINITIS PIGMENTOSA 90; RP90	http://purl.obolibrary.org/obo/MONDO_0033563		http://identifiers.org/omim/619007
MONDO:0033562	neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia	biolink:Disease	mondo	OMIM:619005		NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH	http://purl.obolibrary.org/obo/MONDO_0033562		http://identifiers.org/omim/619005
GO:0016020	membrane	biolink:OntologyClass	mondo			membrane region|region of membrane|whole membrane	http://purl.obolibrary.org/obo/GO_0016020	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.	
GO:0016021	integral component of membrane	biolink:OntologyClass	mondo			integral to membrane|transmembrane	http://purl.obolibrary.org/obo/GO_0016021	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.	
MONDO:0033561	deeah syndrome	biolink:Disease	mondo	OMIM:619004		Developmental Delay With Endocrine, Exocrine, Autonomic, and Hematologic Abnormalities|DEEAH SYNDROME; DEEAH	http://purl.obolibrary.org/obo/MONDO_0033561		http://identifiers.org/omim/619004
MONDO:0033569	combined oxidative phosphorylation deficiency 49	biolink:Disease	mondo	OMIM:619024		COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49	http://purl.obolibrary.org/obo/MONDO_0033569		http://identifiers.org/omim/619024
MONDO:0033571	obsolete skeletal muscle glycogen content and metabolism quantitative trait locus	biolink:Disease	mondo	OMIM:619030		SKELETAL MUSCLE GLYCOGEN CONTENT AND METABOLISM QUANTITATIVE TRAIT LOCUS; SMGMQTL	http://purl.obolibrary.org/obo/MONDO_0033571		http://identifiers.org/omim/619030
MONDO:0033570	combined oxidative phosphorylation deficiency 50	biolink:Disease	mondo	OMIM:619025		COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50	http://purl.obolibrary.org/obo/MONDO_0033570		http://identifiers.org/omim/619025
RO:0001025	located_in	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0001025	a relation between two independent continuants, the target and the location, in which the target is entirely within the location	
MONDO:0033572	intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies	biolink:Disease	mondo	OMIM:619031		INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF	http://purl.obolibrary.org/obo/MONDO_0033572		http://identifiers.org/omim/619031
GO:0004029	aldehyde dehydrogenase (NAD+) activity	biolink:OntologyClass	mondo			NAD-linked aldehyde dehydrogenase activity|NAD-aldehyde dehydrogenase activity|NAD-dependent aldehyde dehydrogenase activity|aldehyde:NAD+ oxidoreductase activity|m-methylbenzaldehyde dehydrogenase activity|CoA-independent aldehyde dehydrogenase activity|propionaldehyde dehydrogenase activity|NAD-dependent 4-hydroxynonenal dehydrogenase activity|aldehyde dehydrogenase (NAD+)	http://purl.obolibrary.org/obo/GO_0004029	Catalysis of the reaction: an aldehyde + NAD+ + H2O = an acid + NADH + H+.	
GO:0031645	negative regulation of nervous system process	biolink:OntologyClass	mondo			negative regulation of neurophysiological process|negative regulation of neurological system process|downregulation of neurological process|down regulation of neurological process|inhibition of neurological process|down-regulation of neurological process|negative regulation of neurological process	http://purl.obolibrary.org/obo/GO_0031645	Any process that stops, prevents, or reduces the frequency, rate or extent of a neurophysiological process.	
GO:0031646	positive regulation of nervous system process	biolink:OntologyClass	mondo			positive regulation of neurological process|positive regulation of neurological system process|up regulation of neurological process|stimulation of neurological process|up-regulation of neurological process|activation of neurological process|positive regulation of neurophysiological process|upregulation of neurological process	http://purl.obolibrary.org/obo/GO_0031646	Any process that activates or increases the frequency, rate or extent of a neurophysiological process.	
GO:0031643	positive regulation of myelination	biolink:OntologyClass	mondo			up regulation of myelination|activation of myelination|stimulation of myelination|upregulation of myelination|up-regulation of myelination	http://purl.obolibrary.org/obo/GO_0031643	Any process that activates or increases the frequency, rate or extent of the formation of a myelin sheath around nerve axons.	
GO:0031644	regulation of nervous system process	biolink:OntologyClass	mondo			regulation of neurological process|regulation of neurological system process|regulation of neurophysiological process	http://purl.obolibrary.org/obo/GO_0031644	Any process that modulates the frequency, rate or extent of a neurophysiological process, an organ system process carried out by any of the organs or tissues of the nervous system.	
HP:0003808	Abnormal muscle tone	biolink:PhenotypicFeature	mondo	UMLS:C0852413		Abnormal muscle tone	http://purl.obolibrary.org/obo/HP_0003808		
RO:0001018	contained in	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0001018		
RO:0001019	contains	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0001019		
RO:0001015	location_of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0001015	a relation between two independent continuants, the location and the target, in which the target is entirely within the location	
GO:0031641	regulation of myelination	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0031641	Any process that modulates the frequency, rate or extent of the formation of a myelin sheath around nerve axons.	
GO:0031642	negative regulation of myelination	biolink:OntologyClass	mondo			down-regulation of myelination|down regulation of myelination|inhibition of myelination|downregulation of myelination	http://purl.obolibrary.org/obo/GO_0031642	Any process that stops, prevents, or reduces the frequency, rate or extent of the formation of a myelin sheath around nerve axons.	
GO:0006699	bile acid biosynthetic process	biolink:OntologyClass	mondo			bile acid anabolism|bile acid synthesis|bile acid biosynthesis|bile acid formation	http://purl.obolibrary.org/obo/GO_0006699	The chemical reactions and pathways resulting in the formation of bile acids, any of a group of steroid carboxylic acids occurring in bile.	
GO:0006694	steroid biosynthetic process	biolink:OntologyClass	mondo			steroidogenesis|steroid anabolism|steroid biosynthesis|steroid synthesis|steroid formation	http://purl.obolibrary.org/obo/GO_0006694	The chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus; includes de novo formation and steroid interconversion by modification.	
GO:0006695	cholesterol biosynthetic process	biolink:OntologyClass	mondo			cholesterol anabolism|cholesterol synthesis|cholesterol formation|cholesterol biosynthesis	http://purl.obolibrary.org/obo/GO_0006695	The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones.	
GO:0004030	aldehyde dehydrogenase [NAD(P)+] activity	biolink:OntologyClass	mondo			aldehyde:NAD(P)+ oxidoreductase activity|ALDH	http://purl.obolibrary.org/obo/GO_0004030	Catalysis of the reaction: an aldehyde + NAD(P)+ + H2O = an acid + NAD(P)H + H+.	
GO:0016011	dystroglycan complex	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016011	A protein complex that includes alpha- and beta-dystroglycan, which are alternative products of the same gene; the laminin-binding component of the dystrophin-associated glycoprotein complex, providing a link between the subsarcolemmal cytoskeleton (in muscle cells) and the extracellular matrix. Alpha-dystroglycan is an extracellular protein binding to alpha-laminin and to beta-dystroglycan; beta-dystroglycan is a transmembrane protein which binds alpha-dystroglycan and dystrophin.	
GO:0016012	sarcoglycan complex	biolink:OntologyClass	mondo			sarcoglycan-sarcospan complex	http://purl.obolibrary.org/obo/GO_0016012	A protein complex formed of four sarcoglycans plus sarcospan; there are six known sarcoglycans: alpha-, beta-, gamma-, delta-, epsilon- and zeta-sarcoglycan; all are N-glycosylated single-pass transmembrane proteins. The sarcoglycan-sarcospan complex is a subcomplex of the dystrophin glycoprotein complex, and is fixed to the dystrophin axis by a lateral association with the dystroglycan complex.	
GO:0016010	dystrophin-associated glycoprotein complex	biolink:OntologyClass	mondo			dystrophin glycoprotein complex|DGC	http://purl.obolibrary.org/obo/GO_0016010	A multiprotein complex that forms a strong mechanical link between the cytoskeleton and extracellular matrix; typical of, but not confined to, muscle cells. The complex is composed of transmembrane, cytoplasmic, and extracellular proteins, including dystrophin, sarcoglycans, dystroglycan, dystrobrevins, syntrophins, sarcospan, caveolin-3, and NO synthase.	
MONDO:0021530	benign neoplasm of subglottis	biolink:Disease	mondo	SCTID:92412003|UMLS:C0345749|NCIT:C4427		benign subglottis neoplasm|benign subglottic neoplasm|subglottis benign neoplasm|benign tumor of subglottis|benign tumor of the subglottis|benign neoplasm of the subglottis|benign subglottic tumor|benign subglottis tumor	http://purl.obolibrary.org/obo/MONDO_0021530	A benign neoplasm that involves the subglottis.	SNOMEDCT:92412003|NCIT:C4427|UMLS:C0345749
MONDO:0021531	fibroma of lung	biolink:Disease	mondo	SCTID:707387004|NCIT:C5658|UMLS:C1334444		fibroma of the lung|lung fibroma|pulmonary fibroma	http://purl.obolibrary.org/obo/MONDO_0021531	A fibroma that involves the lung.	SNOMEDCT:707387004|NCIT:C5658|UMLS:C1334444
MONDO:0021532	fibroma of prostate	biolink:Disease	mondo	ICD9:600.20|UMLS:C0268885|SCTID:47014000|NCIT:C3972		prostate fibroma|prostate gland fibroma|fibroma of the prostate	http://purl.obolibrary.org/obo/MONDO_0021532	A fibroma that involves the prostate gland.	SNOMEDCT:47014000|NCIT:C3972|UMLS:C0268885
MONDO:0008559	thrombophilia due to thrombin defect	biolink:Disease	mondo	GARD:0010815|SCTID:111293003|COHD:444247|ICD9:453.9|OMIM:188050		thrombophilia due to thrombin defect; THPH1|hyperprothrombinemia|prothrombin 20210G>A thrombophilia|factor II-related thrombophilia|THPH1|Venous thromboembolism|prothrombin G20210A thrombophilia|thrombophilia due to Factor 2 defect|prothrombin thrombophilia|venous thrombosis|prothrombin-related thrombophilia|thrombosis, protection against|thrombophilia due to thrombin defect	http://purl.obolibrary.org/obo/MONDO_0008559	The formation of a blood clot (thrombus) in the lumen of a vein.	SNOMEDCT:111293003|http://identifiers.org/omim/188050
MONDO:0021533	intestinal neuroendocrine tumor G1	biolink:Disease	mondo	NCIT:C4637|SCTID:276816003		carcinoid tumor of the intestine|intestinal carcinoid tumor|carcinoid tumor of intestine|intestine carcinoid tumor|intestine neuroendocrine neoplasm G1|intestinal NET G1|intestine carcinoid tumor|intestine NET G1|grade 1 neuroendocrine neoplasm of intestine|intestine carcinoid tumor (disease)|intestinal neuroendocrine tumor G1|intestine neuroendocrine tumor, well differentiated, low grade	http://purl.obolibrary.org/obo/MONDO_0021533	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small or large intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	NCIT:C4637|SNOMEDCT:276816003
MONDO:0008558	autoimmune thrombocytopenic purpura	biolink:Disease	mondo	DOID:8924|OMIM:188030|Orphanet:3002|MedDRA:10021245|ICD10:D69.3|EFO:0007160|COHD:4120621|ICD9:287.31|GARD:0005194|NCIT:C3446	ordo_disease	thrombocytopenic purpura, autoimmune|AITP|idiopathic thrombocytopenic purpura|idiopathic purpura|werlhof's disease|immune thrombocytopenia|primary thrombocytopenic purpura|autoimmune thrombocytopenic purpura|Ideopath thrombocytopenic pur|thrombocytopenic purpura, autoimmune; AITP|ITP|immune thrombocytopenic purpura|idiopathic thrombocytopenia purpura|idiopathic thrombocytopenia|thrombocytopenic purpura autoimmune	http://purl.obolibrary.org/obo/MONDO_0008558	An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin.	ORPHA:3002|MESH:D016553|NCIT:C3446|DOID:8924|UMLS:C0398650|MEDDRA:10021245|http://identifiers.org/omim/188030
MONDO:0021534	rectal neuroendocrine tumor G1	biolink:Disease	mondo	SCTID:713306000|UMLS:C1335678|NCIT:C5547		carcinoid of rectum|carcinoid tumor of rectum|carcinoid of the rectum|rectum carcinoid tumor|rectum neuroendocrine tumor, well differentiated, low grade|carcinoid tumor of the rectum|rectal neuroendocrine tumor G1|rectal carcinoid|rectum carcinoid tumor (disease)|rectal carcinoid tumor|rectum neuroendocrine neoplasm G1|grade 1 neuroendocrine neoplasm of rectum|rectum carcinoid tumor|rectum NET G1|rectal NET G1	http://purl.obolibrary.org/obo/MONDO_0021534	A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.	NCIT:C5547|UMLS:C1335678|SNOMEDCT:713306000
MONDO:0008557	Paris-Trousseau thrombocytopenia	biolink:Disease	mondo	OMIM:188025|UMLS:C1956093|ICD10:D69.4|UMLS:C1861178|Orphanet:851|GARD:0004224	ordo_disease|gard_rare	Paris-Trousseau syndrome|chromosome 11q23 deletion syndrome|thrombocytopenia, Paris-TROUSSEAU type|TCPT|thrombocytopenia, Paris-TROUSSEAU type; TCPT|thrombocytopenia Paris-Trousseau type	http://purl.obolibrary.org/obo/MONDO_0008557	Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.	UMLS:C1861178|MESH:C538617|ORPHA:851|http://identifiers.org/omim/188025|UMLS:C1956093
RO:0001000	derives from	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0001000	a relation between two distinct material entities, the new entity and the old entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity	
MONDO:0008556	thrombocytopenia, cyclic	biolink:Disease	mondo	ICD9:287.39|GARD:0009862|UMLS:C0272282|SCTID:48788004|MESH:C536899|OMIM:188020	gard_rare	thrombocytopenia cyclic|thrombocytopenia, cyclic|cyclic thrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0008556		UMLS:C0272282|SNOMEDCT:48788004|MESH:C536899|http://identifiers.org/omim/188020
MONDO:0008555	thrombocytopenia 2	biolink:Disease	mondo	MESH:C536519|OMIM:188000|GARD:0005191|NCIT:C129035	gard_rare	thrombocytopenia 2; THC2|thrombocytopenia, autosomal dominant, 2|thrombocytopenia autosomal dominant 2|thrombocytopenia type 2|thrombocytopenia 2|THC2	http://purl.obolibrary.org/obo/MONDO_0008555	An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability.	NCIT:C129035|MESH:C536519|http://identifiers.org/omim/188000
RO:0001001	derives into	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0001001	a relation between two distinct material entities, the old entity and the new entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity	
MONDO:0008554	thrombocythemia 1	biolink:Disease	mondo	UMLS:C3277671|OMIM:187950		thrombocytosis 1|THCYT1|thrombocythemia 1|thrombocythemia 1; THCYT1|thrombocythemia type 1	http://purl.obolibrary.org/obo/MONDO_0008554		http://identifiers.org/omim/187950|UMLS:C3277671
MONDO:0008553	platelet-type bleeding disorder 17	biolink:Disease	mondo	MESH:C566060|NCIT:C142084|ICD10:D69.1|OMIM:187900|DOID:0111049		bleeding disorder, platelet-type, 17|bleeding disorder, platelet-type, 17; BDPLT17|hereditary thrombasthenia-thrombocytopenia|thrombasthenia-thrombocytopenia, hereditary|inherited bleeding disorder, platelet-type caused by mutation in GFI1B|GFI1B inherited bleeding disorder, platelet-type|bleeding disorder, platelet-type 17|BDPLT17	http://purl.obolibrary.org/obo/MONDO_0008553	An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function.	http://identifiers.org/omim/187900|MESH:C566060|DOID:0111049|NCIT:C142084
MONDO:0008552	platelet-type bleeding disorder 16	biolink:Disease	mondo	MESH:C566061|ICD10:D69.4|OMIM:187800|DOID:0060691|UMLS:C1861195		bleeding disorder, platelet-type, 16|Glanzmann thrombasthenia, autosomal dominant|bleeding disorder, platelet-type, 16; BDPLT16|autosomal dominant Glanzmann thrombasthenia|autosomal dominant thrombasthenia of Glanzmann and Naegeli|thrombasthenia of Glanzmann and Naegeli, autosomal dominant|BDPLT16	http://purl.obolibrary.org/obo/MONDO_0008552	An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32.	http://identifiers.org/omim/187800|UMLS:C1861195|MESH:C566061|DOID:0060691
MONDO:0008551	thoracolaryngopelvic dysplasia	biolink:Disease	mondo	OMIM:187760|ICD10:Q77.2|UMLS:C1861197|GARD:0005184|Orphanet:3317|MESH:C536517|SCTID:723556008|OMIM:187770	ordo_malformation_syndrome	TLPD|THORACOLARYNGOPELVIC dysplasia; TLPD|THORACOPELVIC dysostosis|thoracolaryngopelvic dysplasia|Barnes syndrome|autosomal dominant thoracolaryngopelvic dysplasia	http://purl.obolibrary.org/obo/MONDO_0008551	Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis.	ORPHA:3317|UMLS:C1861197|MESH:C536517|SNOMEDCT:723556008|http://identifiers.org/omim/187770|http://identifiers.org/omim/187760
MONDO:0008550	obsolete thoracolaryngopelvic dysplasia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0008550		
HGNC:1062	BLVRA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1062		
MONDO:0021524	benign neoplasm of buccal mucosa	biolink:Disease	mondo	UMLS:C0345566|SCTID:92039003|NCIT:C4406|ICD9:210.4		benign buccal mucosa neoplasm|benign neoplasm of the buccal mucosa|benign tumor of the buccal mucosa|benign buccal mucosa tumor|buccal mucosa benign neoplasm|benign tumor of buccal mucosa	http://purl.obolibrary.org/obo/MONDO_0021524	A benign neoplasm that involves the buccal mucosa.	UMLS:C0345566|SNOMEDCT:92039003|NCIT:C4406
MONDO:0021525	benign neoplasm of corpus uteri	biolink:Disease	mondo	ICD9:219.1|NCIT:C3608|UMLS:C0153998|SCTID:92021007		benign corpus uteri neoplasm|benign tumor of body of uterus|benign tumor of corpus uteri|benign tumor of the body of uterus|benign tumor of the corpus uteri|benign tumor of uterine corpus|benign neoplasm of body of uterus|benign tumor of the uterine corpus|benign neoplasm of the corpus uteri|benign corpus uteri tumor|benign neoplasm of the body of uterus|benign neoplasm of uterine corpus|benign uterine corpus tumor|benign neoplasm of the uterine corpus|benign uterine body neoplasm|body of uterus benign neoplasm|benign tumor of uterine body|benign tumor of the uterine body|benign neoplasm of uterine body|benign neoplasm of the uterine body|benign uterine body tumor|benign uterine corpus neoplasm	http://purl.obolibrary.org/obo/MONDO_0021525	A benign neoplasm that involves the body of uterus.	NCIT:C3608|UMLS:C0153998|SNOMEDCT:92021007
HGNC:1069	BMP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1069		
MONDO:0021527	benign neoplasm of meninges	biolink:Disease	mondo	UMLS:C0348426|SCTID:109913001|ICD10:D32|NCIT:C4957		benign neoplasm of the meninges|benign meninges tumor|benign neoplasms of meninges|benign neoplasms of the meninges|benign meninges neoplasm|meningeal cluster benign neoplasm|benign meningeal neoplasm|benign meningeal tumors|meningeal tumors, benign|benign meningeal tumor|benign tumor of meninges|benign tumor of the meninges|benign meningeal neoplasms	http://purl.obolibrary.org/obo/MONDO_0021527	A benign neoplasm that involves the meningeal cluster.	NCIT:C4957|SNOMEDCT:109913001|UMLS:C0348426
CHEBI:91007	aromatic carboxylate	biolink:ChemicalSubstance	mondo			an aromatic carboxylate	http://purl.obolibrary.org/obo/CHEBI_91007	A carboxylic acic anion obtained by deprotonation of the carboxy group of any aromatic carboxylic acid. Major species at pH 7.3.	
MONDO:0021528	benign neoplasm of male breast	biolink:Disease	mondo	NCIT:C4620|UMLS:C0347482|SCTID:92206006		male breast benign neoplasm|benign neoplasm of the Male breast|benign Male breast tumor|benign tumor of the Male breast|benign tumor of Male breast|benign Male breast neoplasm	http://purl.obolibrary.org/obo/MONDO_0021528	A non-metastasizing neoplasm that arises from the breast parenchyma in males.	NCIT:C4620|SNOMEDCT:92206006|UMLS:C0347482
HGNC:1067	BMP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1067		
MONDO:0021529	benign neoplasm of chest wall	biolink:Disease	mondo	NCIT:C8529|ICD9:229.8|SCTID:92058007|UMLS:C0684831		chest wall benign neoplasm|benign tumor of chest wall|benign tumor of the chest wall|benign neoplasm of the chest wall|benign chest wall tumor|benign chest wall neoplasm	http://purl.obolibrary.org/obo/MONDO_0021529	A benign neoplasm that involves the chest wall.	NCIT:C8529|SNOMEDCT:92058007|UMLS:C0684831
HGNC:1068	BMP15	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1068		
HGNC:18475	ZDHHC9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18475		
HGNC:18483	LIPH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18483		
CL:0019019	tracheobronchial smooth muscle cell	biolink:Cell	mondo			smooth muscle cell of tracheobronchial tree	http://purl.obolibrary.org/obo/CL_0019019	A smooth muscle cell that is part of the tracheobronchial tree.	
HGNC:18481	ATP6V0A2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18481		
CL:0019017	lymphatic vessel smooth muscle cell	biolink:Cell	mondo			smooth muscle cell of lymphatic vessel	http://purl.obolibrary.org/obo/CL_0019017	A smooth muscle cell that is part of any lymphatic vessel.	
MONDO:0021520	benign neoplasm of floor of mouth	biolink:Disease	mondo	ICD10:D10.2|NCIT:C3593|ICD9:210.3|SCTID:92109005|UMLS:C0153934		benign tumor of floor of mouth|benign tumor of the floor of the mouth|benign neoplasm of the floor of the mouth|benign floor of the mouth tumor|benign floor of mouth tumor|mouth floor benign neoplasm|benign floor of mouth neoplasm|benign floor of the mouth neoplasm	http://purl.obolibrary.org/obo/MONDO_0021520	A benign neoplasm that involves the mouth floor.	SNOMEDCT:92109005|UMLS:C0153934|NCIT:C3593
MONDO:0021521	benign neoplasm of mediastinum	biolink:Disease	mondo	ICD9:212.5|UMLS:C0153956|NCIT:C3604|SCTID:92214000|ICD10:D15.2		benign mediastinal neoplasms NOS|benign mediastinal neoplasm|benign mediastinal tumor|benign neoplasm of the mediastinum|benign tumor of the mediastinum|mediastinum benign neoplasm|benign tumor of mediastinum	http://purl.obolibrary.org/obo/MONDO_0021521	A benign neoplasm that involves the mediastinum.	SNOMEDCT:92214000|NCIT:C3604|UMLS:C0153956
MONDO:0021522	benign neoplasm of lower jaw bone	biolink:Disease	mondo	UMLS:C0004994|ICD9:213.1|SCTID:92208007|NCIT:C34417|ICD10:D16.5		bone of lower jaw benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021522	A benign neoplasm that involves the bone of lower jaw.	NCIT:C34417|SNOMEDCT:92208007|UMLS:C0004994
MONDO:0008569	thyroid hormone resistance, generalized, autosomal dominant	biolink:Disease	mondo	MESH:C567934|UMLS:C2937288|OMIM:188570		hyperthyroxinemia, familial euthyroid, secondary to pituitary and peripheral resistance to thyroid hormones|GRTH|thyroid hormone resistance, generalized, autosomal dominant; GRTH|Gthr|thyroid hormone unresponsiveness|thyroid hormone resistance, generalized, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008569		UMLS:C2937288|MESH:C567934|http://identifiers.org/omim/188570
MONDO:0021523	benign neoplasm of pharynx	biolink:Disease	mondo	NCIT:C3597|ICD9:210.9|UMLS:C0153940|SCTID:92293007		benign pharynx neoplasm|pharynx benign neoplasm|pharyngeal neoplasm benign|benign pharyngeal neoplasm|benign pharyngeal tumor|benign neoplasm of the pharynx|benign pharynx tumor|benign tumor of the pharynx|benign tumor of pharynx	http://purl.obolibrary.org/obo/MONDO_0021523	A benign neoplasm that involves the pharynx.	SNOMEDCT:92293007|NCIT:C3597|UMLS:C0153940
MONDO:0008568	thyroid hormone plasma membrane transport defect	biolink:Disease	mondo	GARD:0008499|UMLS:C1861101|MESH:C536916|OMIM:188560	gard_rare	defect|thyroid hormone plasma membrane transport defect|hyperthyroxinemia, Eumetabolic, due to T4 plasma Membrane Transport|thyroid hormone resistance due to T4 plasma Membrane Transport defect	http://purl.obolibrary.org/obo/MONDO_0008568		UMLS:C1861101|MESH:C536916|http://identifiers.org/omim/188560
MONDO:0008567	thyroid cancer, nonmedullary, 1	biolink:Disease	mondo	OMIM:188550		thyroid cancer, nonmedullary, type 1|nonmedullary thyroid carcinoma, papillary|thyroid cancer, nonmedullary, 1; NMTC1|familial nonmedullary thyroid cancer, papillary|papillary carcinoma of thyroid|NMTC1|thyroid cancer, nonmedullary, 1	http://purl.obolibrary.org/obo/MONDO_0008567		http://identifiers.org/omim/188550
MONDO:0008566	thyroid cancer, nonmedullary, 2	biolink:Disease	mondo	GARD:0005206|OMIM:188470|MESH:C572845		thyroid cancer, nonmedullary, 2; NMTC2|thyroid carcinoma, follicular|FTC|thyroid cancer, nonmedullary, 2|thyroid cancer, follicular|thyroid cancer, nonmedullary, type 2|NMTC2	http://purl.obolibrary.org/obo/MONDO_0008566		MESH:C572845|http://identifiers.org/omim/188470
MONDO:0008565	familial thyroglossal duct cyst	biolink:Disease	mondo	ICD10:Q89.2|GARD:0005204|SCTID:717331000|MESH:C536909|UMLS:C3495590|OMIM:188455|Orphanet:93953	gard_rare|ordo_morphological_anomaly	thyroglossal duct cysts|hereditary thyroglossal duct cyst|thyroglossal duct cysts familial|hereditary thyroglossal duct cysts|thyroglossal duct cyst, familial	http://purl.obolibrary.org/obo/MONDO_0008565	Familial thyroglossal duct cyst (TDC) is a very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck.	ORPHA:93953|UMLS:C3495590|MESH:C536909|http://identifiers.org/omim/188455|SNOMEDCT:717331000
MONDO:0008564	DiGeorge syndrome	biolink:Disease	mondo	DOID:11198|ICD10:D82.1|UMLS:CN734570|MESH:D004062|OMIM:188400|ICD9:279.11|SCTID:77128003|GTR:AN1145678|NCIT:C2989		DiGeorge syndrome; DGS|velo-cardio-facial syndrome|pharyngeal pouch syndrome|chromosome 22Q11.2 deletion syndrome|DGS|VCF|DiGeorge syndrome type 1|Takao VCF syndrome|DiGeorge syndrome|third and fourth pharyngeal pouch syndrome|Catch22|Sphrintzen|DGS1|hypoplasia of thymus and parathyroids|22q deletion syndrome(s)|DiGeorge syndrome chromosome region|22q11.2 Deletion syndrome|velocardiofacial syndrome|DiGeorge anomaly|DiGeorge sequence|Di-George syndrome|DiGeorge's syndrome|Shprintzen syndrome	http://purl.obolibrary.org/obo/MONDO_0008564	A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly.	NCIT:C2989|http://identifiers.org/omim/188400|DOID:11198|UMLS:CN734570|MESH:D004062|SNOMEDCT:77128003
MONDO:0008563	thumb stiffness-brachydactyly-intellectual disability syndrome	biolink:Disease	mondo	Orphanet:1078|OMIM:188201|GARD:0004375|GARD:0005200|ICD10:Q87.2	gard_rare|ordo_malformation_syndrome	Thumb ankylosis with mental retardation|thumb stiff brachydactyly mental retardation|Piussan-Lenaerts-Mathieu syndrome|thumbs, STIFF, with brachydactyly type A1 and developmental delay|thumb stiff brachydactyly intellectual disability|Thumb ankylosis with intellectual disability	http://purl.obolibrary.org/obo/MONDO_0008563	Thumb stiffness-brachydactyly-intellectual disability syndrome is characterized by intellectual deficit, mild dysmorphism, type A brachydactylia, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably also her sister and her great-aunt), as well as in an isolated case.	ORPHA:1078|MESH:C537511|http://identifiers.org/omim/188201|UMLS:C2931515
MONDO:0008562	thumb deformity-alopecia-pigmentation anomaly syndrome	biolink:Disease	mondo	UMLS:C2931366|Orphanet:2251|OMIM:188150|MESH:C566054|GARD:0005199	ordo_malformation_syndrome	congenital deformity of the thumb and congenital alopecia|thumb deformity, alopecia, pigmentation anomaly|sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation|hypotrichosis associated with congenital hypoplasia of the thumb|thumb deformity and alopecia	http://purl.obolibrary.org/obo/MONDO_0008562	Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988.	ORPHA:2251|MESH:C566054|MESH:C536904|http://identifiers.org/omim/188150|UMLS:C2931366
MONDO:0008561	thumb deformity (disease)	biolink:Disease	mondo	MESH:C536903|HP:0001172|OMIM:188100|GARD:0008482		thumb absent or hypoplastic|thumb deformity|thumb hypoplastic	http://purl.obolibrary.org/obo/MONDO_0008561		MESH:C536903|http://identifiers.org/omim/188100
MONDO:0008560	thrombophilia due to activated protein C resistance	biolink:Disease	mondo	OMIM:188055|SCTID:421527008|UMLS:C1861171|ICD9:289.81|MESH:D020016		APC resistance|thrombophilia due to deficiency of Activated Protein C cofactor|thrombophilia due to ACTIVATED PROTEIN C resistance; THPH2|THPH2|thrombophilia due to activated protein C resistance|thrombophilia due to Factor 5 Leiden|Proc cofactor deficiency|Pccf deficiency|Activated Protein C resistance|thrombophilia 5|resistance, APC	http://purl.obolibrary.org/obo/MONDO_0008560	A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance.	UMLS:C1861171|http://identifiers.org/omim/188055|SNOMEDCT:421527008|MESH:D020016
NCBITaxon:222543	Hypocreomycetidae	organism taxon	mondo	PMID:17572334|GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_222543		
NCBITaxon:222544	Sordariomycetidae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_222544		
HGNC:1071	BMP4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1071		
NCBITaxon:222545	Xylariomycetidae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_222545		
GO:0043624	cellular protein complex disassembly	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0043624	The disaggregation of a protein complex into its constituent components, occurring at the level of an individual cell. Protein complexes may have other associated non-protein prosthetic groups, such as nucleic acids, metal ions or carbohydrate groups.	
MONDO:0021513	benign neoplasm of tonsil	biolink:Disease	mondo	ICD10:D10.4|SCTID:92263001|NCIT:C3594|ICD9:210.5|UMLS:C0153936		benign tonsil neoplasm|benign tonsillar neoplasm|tonsillar neoplasm, benign|benign tumor of tonsil|benign tumor of the tonsil|benign tonsillar tumor|tonsil benign neoplasm|benign neoplasm of the tonsil|benign tonsil tumor	http://purl.obolibrary.org/obo/MONDO_0021513	A benign neoplasm that involves the tonsil.	UMLS:C0153936|NCIT:C3594|SNOMEDCT:92263001
MONDO:0021514	benign neoplasm of pericardium	biolink:Disease	mondo	NCIT:C8536|UMLS:C0685118|SCTID:92289001		benign pericardial tumor|benign neoplasm of the pericardium|benign pericardial neoplasm|benign tumor of the pericardium|benign tumor of pericardium|pericardium benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021514	A benign neoplasm that involves the pericardium.	SNOMEDCT:92289001|UMLS:C0685118|NCIT:C8536
MONDO:0033534	combined oxidative phosphorylation deficiency 46	biolink:Disease	mondo	OMIM:618952		COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46	http://purl.obolibrary.org/obo/MONDO_0033534		http://identifiers.org/omim/618952
MONDO:0033533	combined oxidative phosphorylation deficiency 45	biolink:Disease	mondo	OMIM:618951		COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45	http://purl.obolibrary.org/obo/MONDO_0033533		http://identifiers.org/omim/618951
MONDO:0021515	benign neoplasm of ethmoidal sinus	biolink:Disease	mondo	ICD9:212.0|SCTID:92093000|UMLS:C0345670|NCIT:C4417		benign neoplasm of the ethmoid sinus|benign neoplasm of ethmoid sinus|benign ethmoid sinus tumor|benign tumor of the ethmoid sinus|benign tumor of ethmoid sinus|ethmoid sinus benign neoplasm|benign neoplasm of the ethmoidal sinus|benign tumor of the ethmoidal sinus|benign ethmoidal sinus neoplasm|benign ethmoidal sinus tumor|benign tumor of ethmoidal sinus|benign ethmoid sinus neoplasm	http://purl.obolibrary.org/obo/MONDO_0021515	A benign neoplasm that involves the ethmoid sinus.	UMLS:C0345670|SNOMEDCT:92093000|NCIT:C4417
MONDO:0033532	Suleiman-El-Hattab syndrome	biolink:Disease	mondo	OMIM:618950		SULEIMAN-EL-HATTAB SYNDROME; SULEHS	http://purl.obolibrary.org/obo/MONDO_0033532		http://identifiers.org/omim/618950
MONDO:0021516	benign neoplasm of glottis	biolink:Disease	mondo	SCTID:92123007|UMLS:C0347234|NCIT:C4605		benign glottis neoplasm|benign neoplasm of the glottis|benign glottis tumor|benign tumor of the glottis|glottis benign neoplasm|benign tumor of glottis	http://purl.obolibrary.org/obo/MONDO_0021516	A benign neoplasm that involves the glottis.	NCIT:C4605|SNOMEDCT:92123007|UMLS:C0347234
MONDO:0021517	benign neoplasm of trachea	biolink:Disease	mondo	NCIT:C3602|ICD10:D14.2|ICD9:212.2|UMLS:C0153953|SCTID:92446002		benign tracheal neoplasm|benign tracheal tumor|benign trachea neoplasm|benign neoplasm of the trachea|benign trachea tumor|benign tumor of the trachea|benign tumor of trachea|trachea benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021517	A benign neoplasm that involves the trachea.	SNOMEDCT:92446002|UMLS:C0153953|NCIT:C3602
HGNC:1078	BMPR2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1078		
MONDO:0021518	benign neoplasm of hard palate	biolink:Disease	mondo	ICD9:210.4|NCIT:C4403|UMLS:C0345552|SCTID:92129006		benign neoplasm of the hard palate|benign hard palate tumor|benign tumor of the hard palate|benign tumor of hard palate|hard palate benign neoplasm|benign hard palate neoplasm	http://purl.obolibrary.org/obo/MONDO_0021518	A benign neoplasm that involves the hard palate.	NCIT:C4403|SNOMEDCT:92129006|UMLS:C0345552
HGNC:1076	BMPR1A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1076		
HGNC:1077	BMPR1B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1077		
HGNC:18451	MCFD2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18451		
MONDO:0008539	obsolete distal arthrogryposis type 10	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0008539		
MONDO:0008538	temporal arteritis	biolink:Disease	mondo	NCIT:C35065|GARD:0009615|ICD9:446.5|EFO:1001209|UMLS:C1956391|OMIM:187360|SCTID:400130008|MedDRA:10018250|DOID:13375|Orphanet:397|MedDRA:10043207|ICD10:M31.6	ordo_disease	Horton's temporal arteritis|GCA|polymyalgia rheumatica|Horton’s syndrome|temporal arteritis|Horton's giant cell arteritis|Horton disease|Horton’s disease|temporal artery inflammation|cranial arteritis|Horton's arteritis|arteritis cranialis|arteritis temporalis|Horton's disease|giant cell arteritis|inflammation of temporal artery	http://purl.obolibrary.org/obo/MONDO_0008538	Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries.	DOID:13375|SNOMEDCT:400130008|UMLS:C1956391|http://identifiers.org/omim/187360|MEDDRA:10043207|NCIT:C35065|UMLS:C0039483|MEDDRA:10018250|ORPHA:397|MESH:D013700
MONDO:0021510	benign neoplasm of prostate	biolink:Disease	mondo	UMLS:C0154009|ICD9:222.2|SCTID:92308005|NCIT:C3613|ICD10:D29.1		benign tumor of prostate|benign tumor of the prostate|benign prostate tumor|benign neoplasm of the prostate|prostate gland benign neoplasm|benign prostate neoplasm|benign prostatic neoplasm	http://purl.obolibrary.org/obo/MONDO_0021510	A benign neoplasm that involves the prostate gland.	NCIT:C3613|SNOMEDCT:92308005|UMLS:C0154009
MONDO:0021511	benign neoplasm of adrenal gland	biolink:Disease	mondo	ICD9:227.0|NCIT:C3629|UMLS:C0154040|SCTID:91967007		benign adrenal neoplasm|benign adrenal gland neoplasm|adrenal gland benign neoplasm|benign neoplasm of the adrenal gland|benign adrenal gland tumor|benign tumor of the adrenal gland|benign tumor of adrenal gland|benign adrenal tumor	http://purl.obolibrary.org/obo/MONDO_0021511	A benign neoplasm that involves the adrenal gland.	NCIT:C3629|SNOMEDCT:91967007|UMLS:C0154040
MONDO:0033537	combined oxidative phosphorylation deficiency 47	biolink:Disease	mondo	OMIM:618958		COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47	http://purl.obolibrary.org/obo/MONDO_0033537		http://identifiers.org/omim/618958
MONDO:0008537	telecanthus	biolink:Disease	mondo	Orphanet:98575|ICD10:Q10.3|MESH:C562941|OMIM:187350	ordo_group_of_disorders	telecanthus	http://purl.obolibrary.org/obo/MONDO_0008537		http://identifiers.org/omim/187350|MESH:C562941|UMLS:C0423113|ORPHA:98575
MONDO:0021512	benign neoplasm of thymus	biolink:Disease	mondo	ICD10:D15.0|ICD9:212.6|SCTID:92437008|UMLS:C0345975|NCIT:C4458		benign neoplasm of the Thymus|benign Thymus tumor|benign thymic tumor|benign thymic neoplasm|benign Thymus neoplasm|thymus benign neoplasm|benign tumor of Thymus|benign tumor of the Thymus	http://purl.obolibrary.org/obo/MONDO_0021512	A benign neoplasm that involves the thymus.	UMLS:C0345975|SNOMEDCT:92437008|NCIT:C4458
MONDO:0008536	temperature-sensitive lethal mutation	biolink:Disease	mondo	OMIM:187340		temperature-sensitive lethal mutation	http://purl.obolibrary.org/obo/MONDO_0008536		http://identifiers.org/omim/187340
MONDO:0008535	telangiectasia, hereditary hemorrhagic, type 1	biolink:Disease	mondo	UMLS:CN034812|GTR:AN0097750|OMIM:187300|GTR:AN0195329|GTR:AN0097748|GTR:AN0097757		telangiectasia, hereditary hemorrhagic, of RENDU, Osler, and WEBER; HHT|telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber|Osler-Rendu-Weber disease|ORW disease|ENG-related Hereditary hemorrhagic telangiectasia|Osler Weber Rendu syndrome type 1|HHT|telangiectasia, hereditary hemorrhagic, type 1; HHT1|hereditary hemorrhagic telangiectasia type 1|telangiectasia, hereditary hemorrhagic, type 1|HHT1	http://purl.obolibrary.org/obo/MONDO_0008535		http://identifiers.org/omim/187300|UMLS:CN034812
CL:0019001	tracheobronchial serous cell	biolink:Cell	mondo			serous cell of tracheobronchial tree	http://purl.obolibrary.org/obo/CL_0019001	Any serous secreting cell that is part of the tracheobronchial epithelium.	
MONDO:0008534	generalized essential telangiectasia	biolink:Disease	mondo	SCTID:238763007|Orphanet:280774|UMLS:C0473555|OMIM:187260	ordo_disease	telangiectasia, hereditary benign|telangiectasia, generalized essential|Hbt|GET	http://purl.obolibrary.org/obo/MONDO_0008534		SNOMEDCT:238763007|UMLS:C0473555|http://identifiers.org/omim/187260|ORPHA:280774
MONDO:0008533	teeth, supernumerary	biolink:Disease	mondo	MESH:D014096|ICD10:K00.1|SCTID:8666004|OMIM:187100		teeth, supernumerary	http://purl.obolibrary.org/obo/MONDO_0008533	An extra tooth, erupted or unerupted, resembling or unlike the other teeth in the group to which it belongs. Its presence may cause malposition of adjacent teeth or prevent their eruption.	http://identifiers.org/omim/187100|MESH:D014096|SNOMEDCT:8666004
MONDO:0008532	teeth present at birth (disease)	biolink:Disease	mondo	HP:0000695|SCTID:21995002|OMIM:187050		teeth present AT birth|teeth present at birth|Natal teeth	http://purl.obolibrary.org/obo/MONDO_0008532		http://identifiers.org/omim/187050|SNOMEDCT:21995002
MONDO:0008531	obsolete T-complex locus TCP10B	biolink:Disease	mondo	OMIM:187030		TCP10B|T-complex locus TCP10B|T-complex locus TCP10B; TCP10B	http://purl.obolibrary.org/obo/MONDO_0008531		http://identifiers.org/omim/187030
MONDO:0008530	teeth, odd shapes of	biolink:Disease	mondo	MESH:C566076|OMIM:187000|UMLS:C1861274		conical teeth, multiple|teeth, odd shapes of|Lobodontia	http://purl.obolibrary.org/obo/MONDO_0008530		UMLS:C1861274|MESH:C566076|http://identifiers.org/omim/187000
CL:0019003	tracheobronchial goblet cell	biolink:Cell	mondo			goblet cell of tracheobronchial tree	http://purl.obolibrary.org/obo/CL_0019003	Any goblet cell that is part of the tracheobronchial epithelium.	
CL:0019002	tracheobronchial chondrocyte	biolink:Cell	mondo			chondrocyte of tracheobronchial tree	http://purl.obolibrary.org/obo/CL_0019002	Any chondrocyte that is part of the tracheobronchial tree.	
MONDO:0033546	neurodegeneration, infantile-onset, biotin-responsive	biolink:Disease	mondo	OMIM:618973		Smvt Deficiency|NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB|Sodium-Dependent Multivitamin Transporter Deficiency	http://purl.obolibrary.org/obo/MONDO_0033546		http://identifiers.org/omim/618973
MONDO:0021503	benign neoplasm of gallbladder	biolink:Disease	mondo	UMLS:C0345912|DOID:0080640|NCIT:C4440|SCTID:92117002		gallbladder benign tumor|benign gallbladder neoplasm|gall bladder benign neoplasm|benign neoplasm of the gallbladder|benign gallbladder tumor|benign tumor of the gallbladder|benign tumor of gallbladder|gallbladder benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021503	A benign neoplasm that involves the gall bladder.	NCIT:C4440|UMLS:C0345912|DOID:0080640|SNOMEDCT:92117002
MONDO:0033545	mitochondrial DNA depletion syndrome 19	biolink:Disease	mondo	OMIM:618972		MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19	http://purl.obolibrary.org/obo/MONDO_0033545		http://identifiers.org/omim/618972
MONDO:0033544	Tolchin-Le Caignec syndrome	biolink:Disease	mondo	OMIM:618971		TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS|intellectual developmental disorder With behavioral abnormalities and variable bone defects	http://purl.obolibrary.org/obo/MONDO_0033544		http://identifiers.org/omim/618971
MONDO:0021504		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021504		
MONDO:0021505	benign neoplasm of endocardium	biolink:Disease	mondo	NCIT:C4608|SCTID:92083007|UMLS:C0347254		endocardium benign neoplasm|benign endocardial tumor|benign neoplasm of the endocardium|benign endocardial neoplasm|benign tumor of the endocardium|benign tumor of endocardium	http://purl.obolibrary.org/obo/MONDO_0021505	A benign neoplasm that involves the endocardium.	UMLS:C0347254|NCIT:C4608|SNOMEDCT:92083007
MONDO:0033543	cone-rod synaptic disorder syndrome, congenital nonprogressive	biolink:Disease	mondo	OMIM:618970		CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS	http://purl.obolibrary.org/obo/MONDO_0033543		http://identifiers.org/omim/618970
MONDO:0021506	benign neoplasm of spinal cord	biolink:Disease	mondo	ICD10:D33.4|UMLS:C0154034|ICD9:225.3|SCTID:92405007|NCIT:C3627		benign neoplasm of the spinal cord|spinal cord benign neoplasm|benign tumor of the spinal cord|benign spinal cord tumor|benign tumor of spinal cord|benign spinal cord neoplasm|spinal cord neoplasm, benign	http://purl.obolibrary.org/obo/MONDO_0021506	A benign neoplasm that involves the spinal cord.	SNOMEDCT:92405007|NCIT:C3627|UMLS:C0154034
MONDO:0033542	immunodeficiency 70	biolink:Disease	mondo	OMIM:618969		IMMUNODEFICIENCY 70; IMD70	http://purl.obolibrary.org/obo/MONDO_0033542		http://identifiers.org/omim/618969
MONDO:0033541	immunodeficiency 69	biolink:Disease	mondo	OMIM:618963		IMMUNODEFICIENCY 69; IMD69|Immunodeficiency 69, Mycobacteriosis, Autosomal Recessive|Ifng Deficiency, Autosomal Recessive	http://purl.obolibrary.org/obo/MONDO_0033541		http://identifiers.org/omim/618963
MONDO:0021507	benign neoplasm of brain stem	biolink:Disease	mondo	UMLS:C0686400|NCIT:C8549|SCTID:92029009		benign brainstem tumor|benign brainstem neoplasm|benign tumor of the brainstem|benign tumor of brainstem|benign tumor of brain stem|benign brainstem tumors|benign brainstem neoplasms|benign tumor of the brain stem|brainstem benign neoplasm|benign neoplasm of the brain stem|benign brain stem tumor|benign brain stem neoplasms|benign brain stem neoplasm|benign tumors of the brainstem|benign tumors of brainstem|benign neoplasms of the brainstem|benign neoplasm of the brainstem|benign neoplasms of brainstem|benign neoplasm of brainstem	http://purl.obolibrary.org/obo/MONDO_0021507	A benign neoplasm that involves the brainstem.	UMLS:C0686400|NCIT:C8549|SNOMEDCT:92029009
HGNC:18455	PROK2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18455		
MONDO:0021508	benign neoplasm of epicardium	biolink:Disease	mondo	SCTID:92087008|NCIT:C8535|UMLS:C0685115		benign epicardial tumor|benign tumor of epicardium|epicardium benign neoplasm|benign tumor of the epicardium|benign neoplasm of the epicardium|benign epicardial neoplasm	http://purl.obolibrary.org/obo/MONDO_0021508	A benign neoplasm that involves the epicardium.	NCIT:C8535|UMLS:C0685115|SNOMEDCT:92087008
CL:0007010	preosteoblast	biolink:Cell	mondo			osteoprogenitor cell	http://purl.obolibrary.org/obo/CL_0007010	Skeletogenic cell that has the potential to transform into an osteoblast, and develops from neural crest or mesodermal cells.	
MONDO:0021509	benign neoplasm of myocardium	biolink:Disease	mondo	UMLS:C0347253|SCTID:92238001|NCIT:C4607		benign myocardial tumor|benign tumor of myocardium|benign myocardial neoplasm|benign tumor of the myocardium|benign neoplasm of the myocardium|myocardium benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021509	A benign neoplasm that involves the myocardium.	SNOMEDCT:92238001|UMLS:C0347253|NCIT:C4607
HGNC:18453	NAXE	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18453		
MONDO:0033549	optic atrophy 12	biolink:Disease	mondo	OMIM:618977		OPTIC ATROPHY 12; OPA12	http://purl.obolibrary.org/obo/MONDO_0033549		http://identifiers.org/omim/618977
MONDO:0008549	thoracic dysostosis, isolated	biolink:Disease	mondo	MESH:C566063|UMLS:C1861204|OMIM:187750		thoracic dysostosis, isolated	http://purl.obolibrary.org/obo/MONDO_0008549		http://identifiers.org/omim/187750|UMLS:C1861204|MESH:C566063
MONDO:0033548	myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies	biolink:Disease	mondo	OMIM:618975		Myopathy, Congenital, Due to Myod1 Deficiency|MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF	http://purl.obolibrary.org/obo/MONDO_0033548		http://identifiers.org/omim/618975
MONDO:0021500	benign neoplasm of spleen	biolink:Disease	mondo	ICD9:211.9|SCTID:92408009|NCIT:C4902|UMLS:C0686615		spleen benign neoplasm|benign splenic neoplasm|benign neoplasm of the spleen	http://purl.obolibrary.org/obo/MONDO_0021500	A benign neoplasm that involves the spleen.	NCIT:C4902|UMLS:C0686615|SNOMEDCT:92408009
MONDO:0008548	theophylline Biotransformation	biolink:Disease	mondo	UMLS:C1861211|OMIM:187650		theophylline Biotransformation	http://purl.obolibrary.org/obo/MONDO_0008548		http://identifiers.org/omim/187650|UMLS:C1861211
MONDO:0021501	benign neoplasm of small intestine	biolink:Disease	mondo	NCIT:C3600|SCTID:92385005|UMLS:C0153944|ICD9:211.2		small intestine benign neoplasm|benign small intestinal neoplasm NOS|benign small intestinal neoplasm|benign small intestinal tumor|benign neoplasm of the small intestine|benign small intestine tumor|benign tumor of the small intestine|benign tumor of small intestine|benign small intestine neoplasm	http://purl.obolibrary.org/obo/MONDO_0021501	A benign neoplasm that involves the small intestine.	SNOMEDCT:92385005|NCIT:C3600|UMLS:C0153944
MONDO:0008547	thanatophoric dysplasia type 2	biolink:Disease	mondo	UMLS:CN206542|ICD10:Q77.1|SCTID:389158007|UMLS:C1300257|MESH:C536508|NCIT:C98584|ICD9:742.59|GARD:0001402|Orphanet:93274|OMIM:187601	ordo_clinical_subtype|gard_rare	thanatophoric dwarfism type 2|type 2 thanatophoric dysplasia|cloverleaf skull-micromelic bone dysplasia syndrome|thanatophoric dysplasia, type II|thanatophoric dysplasia with Kleeblattschaedel|TD2|cloverleaf skull with thanatophoric dwarfism|thanatophoric dwarfism - cloverleaf skull|thanatophoric dysplasia type II|thanatophoric dysplasia with straight femurs and cloverleaf skull|thanatophoric dysplasia, type 2|thanatophoric dwarfism-cloverleaf skull syndrome|thanatophoric dysplasia, type II; TD2	http://purl.obolibrary.org/obo/MONDO_0008547	Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs.	UMLS:CN206542|NCIT:C98584|ORPHA:93274|http://identifiers.org/omim/187601|MESH:C536508|SNOMEDCT:389158007|UMLS:C1300257
MONDO:0033547	Li-Ghorbani-Weisz-Hubshman syndrome	biolink:Disease	mondo	OMIM:618974		LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS	http://purl.obolibrary.org/obo/MONDO_0033547		http://identifiers.org/omim/618974
MONDO:0008546	thanatophoric dysplasia type 1	biolink:Disease	mondo	UMLS:C1300256|UMLS:C1868678|ICD10:Q77.1|GARD:0009295|NCIT:C98583|GARD:0004889|Orphanet:1860|OMIM:187600	ordo_clinical_subtype	PLSD San Diego type|type 1 thanatophoric dysplasia|thanatophoric dwarfism 1|thanatophoric dwarfism type 1|TD1|thanatophoric dysplasia type I|Platyspondylic lethal skeletal dysplasia, San Diego type|lethal short-limbed Platyspondylic dwarfism, San Diego type|thanatophoric dysplasia, type I|thanatophoric dysplasia|thanatophoric dwarfism|thanatophoric dysplasia, type I; TD1|thanatophoric dysplasia, type 1	http://purl.obolibrary.org/obo/MONDO_0008546	Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.	NCIT:C98583|UMLS:C2931282|http://identifiers.org/omim/187600|ORPHA:1860|UMLS:C1868678|UMLS:C1300256
MONDO:0008545	thalassemia, beta+, silent allele	biolink:Disease	mondo	MESH:C566065|UMLS:C1861232|OMIM:187550		thalassemia, beta+, silent allele	http://purl.obolibrary.org/obo/MONDO_0008545		http://identifiers.org/omim/187550|UMLS:C1861232|MESH:C566065
MONDO:0008544	tetramelic monodactyly	biolink:Disease	mondo	ICD10:Q73.8|UMLS:C1861233|GARD:0003707|Orphanet:2564|OMIM:187510|MESH:C566066	gard_rare|ordo_malformation_syndrome	Sommer-Hines syndrome|tetramelic monodactyly with autosomal dominant inheritance|tetramelic monodactyly|Sommer Hines syndrome	http://purl.obolibrary.org/obo/MONDO_0008544	Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992.	http://identifiers.org/omim/187510|UMLS:C1861233|ORPHA:2564|MESH:C566066
MONDO:0008543	tetralogy of fallot and glaucoma	biolink:Disease	mondo	OMIM:187501|GARD:0010107|UMLS:C1861234|MESH:C536501	gard_rare	tetralogy of fallot and glaucoma|familial tetralogy of fallot and glaucoma	http://purl.obolibrary.org/obo/MONDO_0008543		http://identifiers.org/omim/187501|UMLS:C1861234|MESH:C536501
MONDO:0008542	tetralogy of fallot	biolink:Disease	mondo	MedDRA:10016193|NCIT:C84505|COHD:320835|DOID:6419|OMIM:187500|Orphanet:3303|SCTID:86299006|GARD:0002245|ICD9:745.2|MESH:D013771|UMLS:C0039685|ICD10:Q21.3	clingen|gard_rare|ordo_malformation_syndrome	ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle|TOF|tetralogy of FALLOT; TOF|Fallot tetralogy|tetralogy of fallot	http://purl.obolibrary.org/obo/MONDO_0008542	Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.	http://identifiers.org/omim/187500|NCIT:C84505|ORPHA:3303|DOID:6419|UMLS:C0039685|MESH:D013771|SNOMEDCT:86299006|MEDDRA:10016193
MONDO:0008541	spermatic cord torsion	biolink:Disease	mondo	OMIM:187400|UMLS:C0037856|NCIT:C26885|ICD10:N44.02|ICD10:N44.00|SCTID:81996005|ICD10:N44.0|MESH:D013086|ICD9:608.20|COHD:435315|DOID:11996|ICD9:608.2		torsion of testicular cord|testicular torsion|torsion of testicle|torsion of testis	http://purl.obolibrary.org/obo/MONDO_0008541	An emergency condition caused by the twisting of the spermatic cord which contains the vessels that provide the blood supply to the testis and surrounding structures. It manifests with acute testicular pain. If immediate medical assistance is not provided, it will lead to necrosis and loss of the testicular tissue.	http://identifiers.org/omim/187400|NCIT:C26885|DOID:11996|SNOMEDCT:81996005|MESH:D013086|UMLS:C0037856
MONDO:0008540	extensor tendons of finger anomalies	biolink:Disease	mondo	GARD:0002597|Orphanet:3294|UMLS:C2931376|OMIM:187390|MESH:C566068	ordo_malformation_syndrome	Hapnes-Boman-Skeie syndrome|anomalous insertion of extensor tendons of fingers|tendons, extensor, of fingers, anomalous insertion OF|Hapnes Boman Skeie syndrome	http://purl.obolibrary.org/obo/MONDO_0008540		ORPHA:3294|MESH:C566068|http://identifiers.org/omim/187390|UMLS:C2931376
GO:0043648	dicarboxylic acid metabolic process	biolink:OntologyClass	mondo			dicarboxylate metabolism|dicarboxylate metabolic process|dicarboxylic acid metabolism	http://purl.obolibrary.org/obo/GO_0043648	The chemical reactions and pathways involving dicarboxylic acids, any organic acid containing two carboxyl (COOH) groups or anions (COO-).	
HGNC:1097	BRAF	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1097		
HGNC:1092	FOXL2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1092		
HGNC:1093	BPGM	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1093		
NCBITaxon:31604	Small ruminant morbillivirus	organism taxon	mondo	GC_ID:1		Pseudorinderpest virus	http://purl.obolibrary.org/obo/NCBITaxon_31604		
HGNC:1090	DST	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1090		
MONDO:0033557	hemophagocytic lymphohistiocytosis, familial, 6	biolink:Disease	mondo	OMIM:618998		HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 6; FHL6	http://purl.obolibrary.org/obo/MONDO_0033557		http://identifiers.org/omim/618998
MONDO:0033556	muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15	biolink:Disease	mondo	OMIM:618992		MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15|Muscular Dystrophy, Congenital, Dpm3-Related	http://purl.obolibrary.org/obo/MONDO_0033556		http://identifiers.org/omim/618992
MONDO:0033555	immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia	biolink:Disease	mondo	OMIM:618987		IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C	http://purl.obolibrary.org/obo/MONDO_0033555		http://identifiers.org/omim/618987
MONDO:0033554	immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia	biolink:Disease	mondo	OMIM:618986		IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B	http://purl.obolibrary.org/obo/MONDO_0033554		http://identifiers.org/omim/618986
MONDO:0033552	blood group, lewis system	biolink:Disease	mondo	OMIM:618983		Lewis-Negative Phenotype|BLOOD GROUP, LEWIS SYSTEM; LE|Lewis Blood Group System	http://purl.obolibrary.org/obo/MONDO_0033552		http://identifiers.org/omim/618983
HGNC:18466	RNASEH1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18466		
MONDO:0033551	immunodeficiency 72 with autoinflammation	biolink:Disease	mondo	OMIM:618982		IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72	http://purl.obolibrary.org/obo/MONDO_0033551		http://identifiers.org/omim/618982
MONDO:0033550	obsolete high density lipoprotein cholesterol level quantitative trait locus 7	biolink:Disease	mondo	OMIM:618979		HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7; HDLCQ7	http://purl.obolibrary.org/obo/MONDO_0033550		http://identifiers.org/omim/618979
MONDO:0021571	multiple sclerosis, susceptibility to 1	biolink:Disease	mondo	UMLS:CN031763|OMIM:126200	predisposition	multiple sclerosis, susceptibility to; MS|multiple sclerosis, susceptibility to|MS1|multiple sclerosis, susceptibility to, 1|disseminated sclerosis|susceptibility to multiple sclerosis|MS	http://purl.obolibrary.org/obo/MONDO_0021571		http://identifiers.org/omim/126200|UMLS:CN031763
MONDO:0021573	oocyte maturation defect 2	biolink:Disease	mondo	OMIM:616780|UMLS:C4225210		oocyte maturation defect 2; OOMD2|OOMD2|inherited oocyte maturation defect caused by mutation in TUBB8|oocyte maturation defect 2|TUBB8 inherited oocyte maturation defect	http://purl.obolibrary.org/obo/MONDO_0021573	Any inherited oocyte maturation defect in which the cause of the disease is a mutation in the TUBB8 gene.	http://identifiers.org/omim/616780|UMLS:C4225210
MONDO:0021574	oocyte maturation defect 3	biolink:Disease	mondo	OMIM:617712		oocyte maturation defect 3|OOMD3|oocyte maturation defect 3; OOMD3	http://purl.obolibrary.org/obo/MONDO_0021574		http://identifiers.org/omim/617712
MONDO:0021575	oocyte maturation defect 4	biolink:Disease	mondo	UMLS:CN562785|OMIM:617743		oocyte maturation defect 4; OOMD4|OOMD4|oocyte maturation defect 4	http://purl.obolibrary.org/obo/MONDO_0021575		http://identifiers.org/omim/617743|UMLS:CN562785
MONDO:0021576	fallopian tube endometrioid tumor	biolink:Disease	mondo	NCIT:C40111|UMLS:C1517113		fallopian tube endometrioid neoplasm|fallopian tube endometrium neoplasm|fallopian tube endometrioid tumor|endometrium neoplasm of fallopian tube	http://purl.obolibrary.org/obo/MONDO_0021576	A benign, borderline, or malignant epithelial tumor of the fallopian tube that is characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells.	UMLS:C1517113|NCIT:C40111
MONDO:0021577	malignant mediastinal neural neoplasm	biolink:Disease	mondo	SCTID:278044006|UMLS:C0349665		malignant neuroma of mediastinum	http://purl.obolibrary.org/obo/MONDO_0021577		UMLS:C0349665|SNOMEDCT:278044006
MONDO:0021578	sternal neoplasm	biolink:Disease	mondo	ICD9:239.2|UMLS:C1290244|NCIT:C6730|SCTID:126559003		neoplasm of sternum (disease)|neoplasm of sternum|tumor of the sternum|sternum tumor|neoplasm of sternum (disorder)|sternum neoplasm (disease)|sternal neoplasm|sternal tumor|tumor of sternum|neoplasm of the sternum|sternum neoplasm	http://purl.obolibrary.org/obo/MONDO_0021578	A benign or malignant neoplasm that affects the sternum.	NCIT:C6730|UMLS:C1290244|SNOMEDCT:126559003
MONDO:0008599	trigeminal neuralgia	biolink:Disease	mondo	ICD9:350.1|DOID:12098|GARD:0007805|Orphanet:221091|COHD:379801|MedDRA:10044652|MESH:D014277|OMIM:190400|ICD10:G50.0|EFO:1001219|SCTID:31681005|UMLS:C0040997	ordo_disease|gard_rare	trifacial neuralgia|trigeminal nerve neuralgia|trigeminal neuralgia|Tic douloureux|trifocal neuralgia|neuralgia of trigeminal nerve	http://purl.obolibrary.org/obo/MONDO_0008599	Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressing against the trigeminal nerve (the nerve that carries pain, feeling, and other sensations from the brain to the skin of theface), as a complication of multiple sclerosis, or due to compression of the nerve by a tumor or cyst. In some cases, the cause is unknown. Treatment options include medicines, surgery, and complementary approaches.	DOID:12098|UMLS:C0040997|MEDDRA:10044652|ORPHA:221091|SNOMEDCT:31681005|http://identifiers.org/omim/190400|MESH:D014277
MONDO:0008598	trichodysplasia-xeroderma syndrome	biolink:Disease	mondo	GARD:0005261|OMIM:190360|MESH:C566032|Orphanet:3361|UMLS:C1860822	ordo_malformation_syndrome	trichodysplasia xeroderma|trichodysplasia-xeroderma	http://purl.obolibrary.org/obo/MONDO_0008598	Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987.	MESH:C566032|UMLS:C1860822|http://identifiers.org/omim/190360|ORPHA:3361
MONDO:0008597	trichorhinophalangeal syndrome, type III	biolink:Disease	mondo	DOID:0080376|GARD:0007802|OMIM:190351|UMLS:C1860823		trichorhinophalangeal syndrome type 3|trichorhinophalangeal syndrome, type III; TRPS3|trichorhinophalangeal syndrome, type 3|Sugio-Kajii syndrome|TRPS 3|TRPS3	http://purl.obolibrary.org/obo/MONDO_0008597	A trichorhinophalangeal syndrome caused by mutations in TRPS1 characterized by the presence of severe brachydactyly, due to short metacarpals, and severe short stature.	DOID:0080376|UMLS:C1860823|http://identifiers.org/omim/190351
MONDO:0008596	trichorhinophalangeal syndrome type I	biolink:Disease	mondo	GARD:0007800|MESH:C536820|SCTID:254091006|NCIT:C75109|ICD9:759.89|DOID:14743|OMIM:190350		TRPS 1|trichorhinophalangeal syndrome, type 1|trichorhinophalangeal syndrome, type I; TRPS1|trichorhinophalangeal dysplasia type I|TRPS1|Giedion syndrome|trichorhinophalangeal syndrome, type I|type I trichorhinophalangeal syndrome|type III trichorhinophalangeal syndrome|trichorhinophalangeal syndrome type 1|Sugio-Kajii syndrome	http://purl.obolibrary.org/obo/MONDO_0008596	An autosomal dominant malformation syndrome caused by mutations in TRPS1 characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.	NCIT:C75109|SNOMEDCT:254091006|DOID:14743|MESH:C536820|http://identifiers.org/omim/190350
MONDO:0008595	trichoepitheliomas, multiple desmoplastic	biolink:Disease	mondo	OMIM:190345|MESH:C566034|UMLS:C1860849		trichoepitheliomas, multiple desmoplastic	http://purl.obolibrary.org/obo/MONDO_0008595		UMLS:C1860849|http://identifiers.org/omim/190345|MESH:C566034
MONDO:0008594	familial multiple discoid fibromas	biolink:Disease	mondo	UMLS:C1860850|Orphanet:538756|GARD:0008479|OMIM:190340|MESH:C536847	ordo_disease	familial multiple trichodiscomas|FMDF|discoid fibromas, familial multiple; FMDF|hereditary multiple trichodiscomas|small benign fibrovascular tumor of the dermal part of the hair disk|discoid fibromas, familial multiple|trichodiscomas, familial multiple	http://purl.obolibrary.org/obo/MONDO_0008594	A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominently located on the face, ears, neck and trunk, not associated with systemic organ involvement, associated malignancies or FLCN gene locus mutation.	UMLS:C1860850|MESH:C536847|ORPHA:538756|http://identifiers.org/omim/190340
MONDO:0021570	Hauptmann-Thannhauser muscular dystrophy	biolink:Disease	mondo	SCTID:240072005|ICD9:425.4		benign scapuloperoneal muscular dystrophy with cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0021570		SNOMEDCT:240072005
MONDO:0008593	trichomegaly	biolink:Disease	mondo	OMIM:190330		trichomegaly|TCMGLY|eyelashes, long|trichomegaly; TCMGLY	http://purl.obolibrary.org/obo/MONDO_0008593		http://identifiers.org/omim/190330
MONDO:0008592	tricho-dento-osseous syndrome	biolink:Disease	mondo	SCTID:38993008|GARD:0007799|ICD9:759.89|DOID:0111565|OMIM:190320|ICD10:Q82.4|Orphanet:3352|MESH:C536549|GARD:0005252	ordo_malformation_syndrome|gard_rare	Tricho-dento-osseous syndrome 1|enamel hypoplasia and hypocalcification with associated strikingly curly hair|TDO syndrome|TRICHODENTOOSSEOUS syndrome|TDO syndrome 1|TRICHODENTOOSSEOUS syndrome; TDO|kinky or curly hair, dolichocephaly, enamel hypoplasia, increased dental caries, radial dense bones, and brittle nails|TDO	http://purl.obolibrary.org/obo/MONDO_0008592	Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull.	MESH:C536549|DOID:0111565|SNOMEDCT:38993008|http://identifiers.org/omim/190320|ORPHA:3352|UMLS:C0265333
MONDO:0008591	tremor-nystagmus-duodenal ulcer syndrome	biolink:Disease	mondo	UMLS:C1860860|OMIM:190310|Orphanet:3350|GARD:0003948|MESH:C536406	ordo_disease|gard_rare	Neuhauser-Daly-Magnelli syndrome|Neuhauser Daly Magnelli syndrome|tremor, NYSTAGMUS, and duodenal ulcer|tremor nystagmus duodenal ulcer	http://purl.obolibrary.org/obo/MONDO_0008591		MESH:C536406|UMLS:C1860860|http://identifiers.org/omim/190310|ORPHA:3350
MONDO:0008590	tremor, hereditary essential, 1	biolink:Disease	mondo	DOID:0111428|MESH:C536545|UMLS:C1860861|OMIM:190300|GARD:0005244		tremor hereditary essential, 1|tremor, familial essential, 1|tremor, hereditary essential, 1; ETM1|DRD3 essential tremor|essential tremor caused by mutation in DRD3|ETM1|tremor familial essential, 1|tremor, hereditary essential, type 1|tremor, hereditary essential, 1|FET1	http://purl.obolibrary.org/obo/MONDO_0008590	Any essential tremor in which the cause of the disease is a mutation in the DRD3 gene.	MESH:C536545|DOID:0111428|UMLS:C1860861|http://identifiers.org/omim/190300
MONDO:0021568	renal tubule disease	biolink:Disease	mondo	UMLS:C0151747|SCTID:95568003|ICD9:588.89		renal tubule disease or disorder|disorder of renal tubule|renal tubular disease|disease of renal tubule|disorder of renal tubule|disease or disorder of renal tubule|renal tubule disease|renal tubular disorder	http://purl.obolibrary.org/obo/MONDO_0021568	A disease that involves the renal tubule.	SNOMEDCT:95568003|UMLS:C0151747
MONDO:0021569	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	biolink:Disease	mondo	GARD:0010230|DOID:0110301|UMLS:C1834653|OMIM:181350|NCIT:C126745|UMLS:C0410190|OMIM:159001|Orphanet:264|ICD10:G71.0|DOID:0070247|SCTID:718178006|MESH:C535898	ordo_disease|gard_rare	muscular dystrophy, limb-girdle type 1B|scapuloilioperoneal atrophy with cardiopathy|muscular dystrophy, limb-girdle, type 1B; LGMD1B|proximal muscular dystrophy type 1B|Emery-Dreifuss muscular dystrophy 2, autosomal dominant|Emery-Dreifuss muscular dystrophy, autosomal dominant|muscular dystrophy, proximal, type 1B|autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA|EDMD2|limb-girdle muscular dystrophy type 1B|autosomal dominant limb-girdle muscular dystrophy type 1B|LGMD1B|EMD2|Hauptmann-Thannhauser muscular dystrophy|muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant|limb-girdle muscular dystrophy due to lamin A/C deficiency|LMNA autosomal dominant limb-girdle muscular dystrophy|Emery-Dreifuss muscular dystrophy 2, autosomal dominant; EDMD2|muscular dystrophy, limb-girdle, type 1B	http://purl.obolibrary.org/obo/MONDO_0021569	Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene.	http://identifiers.org/omim/181350|SNOMEDCT:718178006|http://identifiers.org/omim/159001|DOID:0110301|MESH:C535898|NCIT:C126745|DOID:0070247|UMLS:C1834653|UMLS:C0410190|ORPHA:264
MONDO:0021562	omphalitis	biolink:Disease	mondo	GTR:AN0533760|NCIT:C116008|SCTID:239095007|UMLS:C0028992		Omphalitis|omphalitis	http://purl.obolibrary.org/obo/MONDO_0021562	Inflammation of the umbilical cord stump in newborns.	SNOMEDCT:239095007|UMLS:C0028992|NCIT:C116008
CL:0007009	prechondroblast	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0007009	Skeletogenic cell that has the potential to develop into a chondroblast; and arises from neural crest, meseosdermal and notochordal and connective tissue cells.	
MONDO:0021559	non-autoimmune hemolytic anemia	biolink:Disease	mondo	ICD9:283.19|UMLS:C0028283|ICD9:283.10|NCIT:C34853|SCTID:191216004		non-autoimmune hemolytic anemia|Non-Autoimmune Hemolytic Anemia|Non-autoimmune hemolytic anemia	http://purl.obolibrary.org/obo/MONDO_0021559	Hemolytic anemia that is not mediated by immune mechanisms.	SNOMEDCT:191216004|NCIT:C34853|UMLS:C0028283
CL:0007004	premigratory neural crest cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0007004	Cell that is part of the neural crest region of the neuroepithelium, prior to migration. Note that not all premigratory neural crest cells may become migratory neural crest cells.	
CL:0007000	preameloblast	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0007000	Skeletogenic cell that has the potential to develop into an ameloblast. Located in the inner enamel epithelium, these cells elongate, their nuclei shift distally (away from the dental papilla), and their cytoplasm becomes filled with organelles needed for synthesis and secretion of enamel proteins.	
MONDO:0021553	transverse myelitis	biolink:Disease	mondo	GARD:0007796|UMLS:C0026976|SCTID:16631009|ICD9:323.9	gard_rare	Transverse myelitis|Transverse myelopathy syndrome|transverse myelopathy syndrome|Transverse Myelopathy Syndromes|transverse myelitis|Transverse Myelitis|Myelitis, Transverse|Transverse Myelopathy Syndrome	http://purl.obolibrary.org/obo/MONDO_0021553		SNOMEDCT:16631009|UMLS:C0026976
MONDO:0021556		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021556		
MONDO:0008579	toes, relative length of first and second	biolink:Disease	mondo	OMIM:189200		toes, relative length of first and second	http://purl.obolibrary.org/obo/MONDO_0008579		http://identifiers.org/omim/189200
MONDO:0008578	toe, rotated fifth	biolink:Disease	mondo	OMIM:189150		toe, rotated fifth	http://purl.obolibrary.org/obo/MONDO_0008578		http://identifiers.org/omim/189150
MONDO:0008577	toe, misshapen	biolink:Disease	mondo	OMIM:189100		toe, misshapen	http://purl.obolibrary.org/obo/MONDO_0008577		http://identifiers.org/omim/189100
MONDO:0008576	toe, fifth, number of phalanges 1N	biolink:Disease	mondo	OMIM:189000		toe, fifth, number of phalanges type 1N|toe, fifth, number of phalanges IN	http://purl.obolibrary.org/obo/MONDO_0008576		http://identifiers.org/omim/189000
MONDO:0008575	nicotine dependence	biolink:Disease	mondo	NCIT:C54203|MESH:D014029|ICD10:F17.20|SCTID:56294008|ICD10:F17|ICD10:F17.2|EFO:0003768|DOID:0050742|ICD9:305.1|OMIM:188890		tobacco use disorder|smoking habit, susceptibility to|nicotine addiction, susceptibility to|nicotine dependence, susceptibility to|tobacco addiction, susceptibility to|cigarette habituation, susceptibility to|susceptibility to tobacco addiction|nicotine addiction	http://purl.obolibrary.org/obo/MONDO_0008575	Physical and psychological dependence on nicotine.	MESH:D014029|SNOMEDCT:56294008|DOID:0050742|http://identifiers.org/omim/188890|NCIT:C54203
MONDO:0008574	obsolete Tl antigen	biolink:Disease	mondo	OMIM:188850		Tl antigen|Thymus leukemia antigen|histocompatibility 2, T-region locus 18	http://purl.obolibrary.org/obo/MONDO_0008574		http://identifiers.org/omim/188850
MONDO:0008573	tibial torsion, bilateral medial	biolink:Disease	mondo	MESH:C566045|UMLS:C1861097|OMIM:188800		tibial torsion, bilateral medial	http://purl.obolibrary.org/obo/MONDO_0008573		UMLS:C1861097|MESH:C566045|http://identifiers.org/omim/188800
MONDO:0008572	tibia, hypoplasia or aplasia of, with polydactyly	biolink:Disease	mondo	MESH:C566046|DOID:0111564|OMIM:188740		tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia|THYP|tibia, hypoplasia or aplasia of, with polydactyly; THYP|tibia, hypoplasia or aplasia of, with polydactyly	http://purl.obolibrary.org/obo/MONDO_0008572		MESH:C566046|DOID:0111564|http://identifiers.org/omim/188740
MONDO:0008571	Blount disease, infantile	biolink:Disease	mondo	UMLS:C3150037|OMIM:188700		tibia vara, infantile|Osteochondrosis deformans tibiae, infantile|Blount disease, infantile	http://purl.obolibrary.org/obo/MONDO_0008571		UMLS:C3150037|http://identifiers.org/omim/188700
MONDO:0008570	thyrotoxic periodic paralysis, susceptibility to, 1	biolink:Disease	mondo	OMIM:188580	predisposition	thyrotoxic periodic paralysis, susceptibility to, 1|thyrotoxic periodic paralysis, susceptibility to, 1; TTPP1|CACNA1S thyrotoxic periodic paralysis|thyrotoxic periodic paralysis caused by mutation in CACNA1S|thyrotoxic periodic paralysis, susceptibility to, type 1|TTPP1	http://purl.obolibrary.org/obo/MONDO_0008570	Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the CACNA1S gene.	http://identifiers.org/omim/188580
MONDO:0021546	ependymal tumor of spinal cord	biolink:Disease	mondo	NCIT:C131526|UMLS:C4318747		ependymal tumor of spinal cord|spinal cord ependymal tumor	http://purl.obolibrary.org/obo/MONDO_0021546	An ependymal tumor that arises from the spinal cord.	UMLS:C4318747|NCIT:C131526
MONDO:0021547	amelogenesis imperfecta type 3B	biolink:Disease	mondo	UMLS:CN373594|DOID:0080243|OMIM:617607		AI3B|amelogenesis imperfecta, type 3B|amelogenesis imperfecta, type IIIB|amelogenesis imperfecta, type IIIB; AI3B	http://purl.obolibrary.org/obo/MONDO_0021547		DOID:0080243|UMLS:CN373594|http://identifiers.org/omim/617607
MONDO:0021548	total early-onset cataract	biolink:Disease	mondo	Orphanet:98994|ICD10:Q12.0|GARD:0001159	ordo_clinical_subtype	CCT|cataract, total congenital|cataract, total congenital with posterior sutural opacities in heterozygotes	http://purl.obolibrary.org/obo/MONDO_0021548		UMLS:C0266539|ORPHA:98994|MESH:C535341
MONDO:0021540	hamartoma of lung	biolink:Disease	mondo	SCTID:254644003|ICD9:235.7|UMLS:C0149927|NCIT:C3497		lung hamartoma (disease)|lung chondroid hamartoma|hamartoma of the lung|pulmonary hamartoma|lung hamartoma	http://purl.obolibrary.org/obo/MONDO_0021540	A hamartoma (disease) that involves the lung.	SNOMEDCT:254644003|NCIT:C3497|UMLS:C0149927
MONDO:0021541	hemangioma of retina	biolink:Disease	mondo	SCTID:93470007|NCIT:C3634|ICD9:228.03|UMLS:C0154051		angioma of retina|angioma of the retina|hemangioma of the retina|retinal angioma|retinal hemangioma|retina hemangioma|retina angioma	http://purl.obolibrary.org/obo/MONDO_0021541	A hemangioma that involves the retina.	UMLS:C0154051|SNOMEDCT:93470007|NCIT:C3634
MONDO:0021542	hemangioma of choroid	biolink:Disease	mondo	NCIT:C4562|ICD9:228.09|SCTID:255022003|UMLS:C0346390		hemangioma, choroid, benign|choroid hemangioma|benign angioma of the choroid|benign angioma of choroid|optic choroid hemangioma|benign choroid hemangioma|benign choroid angioma|benign hemangioma of the choroid|benign hemangioma of choroid|hemangioma of optic choroid|hemangioma of the choroid|angioma of the choroid|choroid angioma|angioma of choroid	http://purl.obolibrary.org/obo/MONDO_0021542	A hemangioma that involves the optic choroid.	NCIT:C4562|UMLS:C0346390|SNOMEDCT:255022003
MONDO:0021543	hemangioma of gingiva	biolink:Disease	mondo	UMLS:C0582885|SCTID:304990002|NCIT:C4831|ICD9:228.09		gingiva hemangioma|gingival angioma|gum hemangioma|gum angioma|hemangioma of the gum|angioma of the gum|hemangioma of gum|angioma of gum|gingival hemangioma|hemangioma of the gingiva|angioma of the gingiva|angioma of gingiva	http://purl.obolibrary.org/obo/MONDO_0021543	A hemangioma that involves the gingiva.	UMLS:C0582885|NCIT:C4831|SNOMEDCT:304990002
MONDO:0021544		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021544		
MONDO:0021545	myomatous neoplasm	biolink:Disease	mondo	MESH:D009379|NCIT:C4063|MESH:D019042		neoplasm of muscle|neoplasm of the muscle|muscle tumor|myoblastomas|myomatous tumor|myofibroblastoma|muscle tissue neoplasm|muscle tissue neoplasms|tumor of muscle|myofibroblastomas|myoblastoma|tumor of the muscle|myomatous neoplasm|muscle neoplasm|neoplasm, muscle tissue	http://purl.obolibrary.org/obo/MONDO_0021545	A benign or malignant mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle.	MESH:D019042|NCIT:C4063|MESH:D009379
MONDO:0008589	tremor of intention, ataxia, and lipofuscinosis	biolink:Disease	mondo	MESH:C566038|UMLS:C1860872|OMIM:190200		tremor of intention, ataxia, and lipofuscinosis	http://purl.obolibrary.org/obo/MONDO_0008589		MESH:C566038|UMLS:C1860872|http://identifiers.org/omim/190200
MONDO:0008588	hereditary geniospasm	biolink:Disease	mondo	OMIM:190100|SCTID:718103001|MESH:C537682|ICD10:G25.3|GARD:0009501|UMLS:C2931589|Orphanet:53372	ordo_disease|gard_rare	trembling Chin|GSM1|hereditary chin tremor/myoclonus|GSM 1|geniospasm 1|hereditary chin myoclonus|hereditary chin-trembling|geniospasm 1; GSM1|familial trembling of the chin|geniospasm	http://purl.obolibrary.org/obo/MONDO_0008588	Hereditary geniospasm is a movement disorder characterized by episodes of involuntary tremor of the chin and lower lip.	MESH:C537682|ORPHA:53372|UMLS:C2931589|http://identifiers.org/omim/190100|SNOMEDCT:718103001
MONDO:0008587	tracheobronchopathia osteochondroplastica	biolink:Disease	mondo	UMLS:CN204359|MESH:C536977|ICD10:J98.0|OMIM:189961|SCTID:54675009|Orphanet:3348|GARD:0005235	ordo_disease	cartilaginous or bony projections into the tracheobronchial lumen|tracheobronchopathia osteoplastica|tracheopathia osteoplastica|tracheobronchopathia osteochondroplastica	http://purl.obolibrary.org/obo/MONDO_0008587	Tracheobronchopathia osteochondroplastica (TO) is an idiopathic and benign disease of the large airways characterized by submucosal osteocartilaginous nodules presenting in the trachea with or without the involvement of the major bronchi.	MESH:C536977|http://identifiers.org/omim/189961|UMLS:CN204359|SNOMEDCT:54675009|ORPHA:3348
MONDO:0008586	esophageal atresia/tracheoesophageal fistula	biolink:Disease	mondo	Orphanet:1199|SCTID:95435007|ICD10:Q39.1|DOID:0080171|MedDRA:10030146|ICD10:Q39.0|MESH:C531835|MedDRA:10021530|OMIM:189960|GARD:0007792	ordo_morphological_anomaly	esophageal atresia and/or tracheoesophageal fistula|tracheoesophageal fistula with or without esophageal atresia|tracheoesophageal fistula|te fistula|tracheoesophageal fistula with or without esohageal atresia|esophageal atresia with or without tracheoesophageal fistula|TEF	http://purl.obolibrary.org/obo/MONDO_0008586	Oesophageal atresia (OA) encompasses a group of congenital anomalies with an interruption in the continuity of the oesophagus, with or without persistent communication with the trachea.	ORPHA:1199|DOID:0080171|UMLS:C0014850|MEDDRA:10021530|http://identifiers.org/omim/189960|MEDDRA:10030146|MESH:D004933|SNOMEDCT:95435007|MESH:C531835
MONDO:0008585	HELLP syndrome	biolink:Disease	mondo	ICD10:O14.2|DOID:13133|NCIT:C84750|MedDRA:10049058|GARD:0008528|Orphanet:244242|MESH:D017359|UMLS:C0162739|OMIM:189800|EFO:0007297	gard_rare|ordo_disease	PREECLAMPSIA/eclampsia 1|PEE1|hypertension, pregnancy-induced|pee|hemolysis-elevated liver enzymes-low platelets syndrome|PREECLAMPSIA/eclampsia 1; PEE1|hemolysis, elevated liver enzymes, low platelets in pregnancy|Preg1|hemolysis, elevated liver enzymes, lowered platelets|hemolysis-elevated liver enzymes-Low Platelet count syndrome|toxemia of pregnancy|hemolysis, elevated liver enzymes, and Low Platelet count	http://purl.obolibrary.org/obo/MONDO_0008585	HELLP syndrome is a life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: H emolysis, E levated L iver enzyme levels, and L ow P latelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia. If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby.The main treatment is to deliver the baby as soon as possible, even if premature. Treatment may also includemedications needed for the mother or baby, and blood transfusion for severe bleeding problems.	UMLS:C0162739|DOID:13133|http://identifiers.org/omim/189800|MESH:D017359|NCIT:C84750|MEDDRA:10049058|ORPHA:244242
MONDO:0008584	torus palatinus and torus mandibularis	biolink:Disease	mondo	UMLS:C1861044|MESH:C566043|OMIM:189700		torus palatinus and torus mandibularis	http://purl.obolibrary.org/obo/MONDO_0008584		MESH:C566043|http://identifiers.org/omim/189700|UMLS:C1861044
MONDO:0008583	inherited torticollis (disease)	biolink:Disease	mondo	MESH:C535425|SCTID:70070008|SCTID:268240006|GARD:0004908|HP:0000473|COHD:440814|NCIT:C4811|OMIM:189600|ICD9:723.5	gard_rare	congenital muscular torticollis|contracture of sternocleidomastoid muscle|congenital wryneck|torticollis, familial|torticollis|torticollis, congenital|familial torticollis|congenital wry neck|congenital sternomastoid torticollis|congenital torticollis|familial spasmodic torticollis|fibromatosis colli	http://purl.obolibrary.org/obo/MONDO_0008583	A congenital benign lesion that occurs in the distal sternocleidomastoid muscle of infants. It is characterized by the presence of plump spindle cells, and collagenous stroma formation.	SNOMEDCT:268240006|SNOMEDCT:70070008|MESH:C535425|http://identifiers.org/omim/189600|NCIT:C4811
MONDO:0008582	tooth and nail syndrome	biolink:Disease	mondo	DOID:6678|ICD10:Q82.4|NCIT:C40553|OMIM:189500|UMLS:C0406735|SCTID:400036004|Orphanet:2228|GARD:0005587|MESH:C536736	ordo_malformation_syndrome	hypodontia with nail dysplasia|hypodontia-dysplasia of nails syndrome|Witkop syndrome|nail dysplasia with hypodontia|dysplasia of nails with hypodontia|hypoplastic enamel-onycholysis-hypohidrosis syndrome|TNS|hypodontia and nail dysplasia|hypodontia-nail dysgenesis syndrome|WITKOP syndrome|Witkop's syndrome|ectodermal dysplasia 3, Witkop type|hypodontia - dysplasia of nails|HND|ectodermal dysplasia 3, Tooth/nail type|hypodontia-nail dysplasia|tooth-and-nail syndrome|tooth and nail syndrome	http://purl.obolibrary.org/obo/MONDO_0008582	Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia.	UMLS:C0406735|UMLS:C0406716|MESH:C536736|SNOMEDCT:400036004|http://identifiers.org/omim/189500|ORPHA:2228|NCIT:C40553|DOID:6678
MONDO:0008581	malposition of teeth with or without hypodontia/oligodontia	biolink:Disease	mondo	OMIM:189490		ectopic eruption of teeth|malposition of teeth with or without hypodontia/oligodontia	http://purl.obolibrary.org/obo/MONDO_0008581		http://identifiers.org/omim/189490
MONDO:0008580	toes, space between first and second	biolink:Disease	mondo	OMIM:189230		toes, space between first and second	http://purl.obolibrary.org/obo/MONDO_0008580		http://identifiers.org/omim/189230
MONDO:0021535	pancreatic neuroendocrine tumor G1	biolink:Disease	mondo	SCTID:254613007|NCIT:C95584		pancreas neuroendocrine tumor, well differentiated, low grade|pancreas carcinoid tumor|pancreatic NET G1|pancreas neuroendocrine neoplasm G1|pancreas NET G1|pancreatic neuroendocrine tumor G1|grade 1 neuroendocrine neoplasm of pancreas|pancreas carcinoid tumor	http://purl.obolibrary.org/obo/MONDO_0021535	A low grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal or less than 2%.	NCIT:C95584|SNOMEDCT:254613007
MONDO:0021536		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021536		
MONDO:0021537	undifferentiated carcinoma of nasopharynx	biolink:Disease	mondo	SCTID:422541001|NCIT:C8023|UMLS:C0279748		nasopharyngeal undifferentiated carcinoma|nasopharynx undifferentiated carcinoma|nasopharyngeal lymphoepithelioma|undifferentiated carcinoma of the nasopharynx|lymphoepithelioma of the nasopharynx|undifferentiated nasopharyngeal throat cancer|lymphoepithelioma of nasopharynx|nasopharyngeal nonkeratinizing undifferentiated carcinoma	http://purl.obolibrary.org/obo/MONDO_0021537	A undifferentiated carcinoma that involves the nasopharynx.	UMLS:C0279748|NCIT:C8023|SNOMEDCT:422541001
HGNC:18423	DEPDC5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18423		
MONDO:0021538	verrucous carcinoma of oral cavity	biolink:Disease	mondo	UMLS:C0280306|SCTID:403889000|NCIT:C8174		verrucous carcinoma of the oral cavity|verrucous carcinoma of the mouth|verrucous carcinoma of mouth|oral cavity verrucous carcinoma|oral cavity verrucous cancer|mouth verrucous carcinoma	http://purl.obolibrary.org/obo/MONDO_0021538	A verrucous carcinoma that involves the oral cavity.	NCIT:C8174|UMLS:C0280306|SNOMEDCT:403889000
MONDO:0021539	hamartoma of skin appendage	biolink:Disease	mondo	ICD9:759.6|SCTID:399906000|UMLS:C1302712|NCIT:C5562		skin appendage hamartoma|cutaneous appendage hamartoma (disease)	http://purl.obolibrary.org/obo/MONDO_0021539	A hamartoma (disease) that involves the cutaneous appendage.	UMLS:C1302712|SNOMEDCT:399906000|NCIT:C5562
HGNC:18420	SETD2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18420		
UBERON:0005475	sigmoid sinus	biolink:AnatomicalEntity	mondo			sulcus sigmoideus	http://purl.obolibrary.org/obo/UBERON_0005475	A portion of the lateral venous sinus, bulging prominently into the mastoid cavity, that serves as a principal conduit by which blood leaves the cranium[EPIC]. The sigmoid is drained by the internal jugular vein	
UBERON:0005473	sacral region	biolink:AnatomicalEntity	mondo			croup|pelvic back|sacral part of pelvis|rump|hindquarter|back of pelvis|regio sacralis|posterior part of pelvis	http://purl.obolibrary.org/obo/UBERON_0005473	A subdivision of an organism along the anterior-posterior axis in the pelvic region immediately posterior to the lumbar region and anterior to the caudal region. Sometimes an intermediate region is defined between the sacral and caudal.	
UBERON:0005472	right vitelline vein	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005472	A vitelline vein that is in the right side of a multicellular organism.	
HGNC:18518	RNASEH2A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18518		
HGNC:18514	SPART	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18514		
HGNC:3642	FDXR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3642		
UBERON:0005478	sulcus limitans of neural tube	biolink:AnatomicalEntity	mondo			neural tube lateral wall sulcus limitans|sulcus limitans	http://purl.obolibrary.org/obo/UBERON_0005478	A longitudinal groove in the neural tube wall that divides the neural tube into dorsal (alar) and ventral (basal) halves (dorsal receives input from sensory neurons, ventral effects motor functions); stretches from the mesencephalon caudad[TMD].	
HP:0025132	Abnormal circulating estrogen level	biolink:PhenotypicFeature	mondo			Abnormal circulating oestrogen level|Abnormal estrogen level	http://purl.obolibrary.org/obo/HP_0025132	A deviation from normal concentration of the hormone estrogen in the blood circulation.	
UBERON:0005477	stomach fundus epithelium	biolink:AnatomicalEntity	mondo			gastric epithelium of fundus|epithelium of fundus of stomach|gastric fundus epithelium	http://purl.obolibrary.org/obo/UBERON_0005477	A simple columnar epithelium that is part of a fundus of stomach.	
MONDO:0008609	Tristichiasis	biolink:Disease	mondo	OMIM:190800		eyelashes, three rows of|Tristichiasis	http://purl.obolibrary.org/obo/MONDO_0008609		http://identifiers.org/omim/190800
MONDO:0008608	Down syndrome	biolink:Disease	mondo	NIFSTD:nlx_dys_20090502|MedDRA:10044688|NCIT:C2993|Orphanet:870|UMLS:C0013080|MESH:D004314|OMIM:190685|ICD10:Q90|GARD:0010247|DOID:14250|ICD10:Q90.2|ICD10:Q90.1|ICD10:Q90.0|EFO:0001064|SCTID:41040004|ICD10:Q90.9|ICD9:758.0	ordo_malformation_syndrome	Down's syndrome - trisomy 21|Downs syndrome|transient myeloproliferative disorder of Down syndrome|G trisomy|trisomy 21 (Down syndrome)|Down syndrome chromosome region|Down syndrome|trisomy 21|Down's syndrome|Down syndrome critical region|complete trisomy 21 syndrome|trisomy 21 syndrome|leukemia, megakaryoblastic, of Down syndrome	http://purl.obolibrary.org/obo/MONDO_0008608	Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.	MESH:D004314|http://identifiers.org/omim/190685|UMLS:C0013080|NCIT:C2993|DOID:14250|ORPHA:870|SNOMEDCT:41040004|MEDDRA:10044688
MONDO:0008607	triphalangeal thumbs-brachyectrodactyly syndrome	biolink:Disease	mondo	ICD10:Q74.8|MESH:C536564|OMIM:190680|GARD:0005290|UMLS:C1860804|Orphanet:2947	ordo_malformation_syndrome	triphalangeal thumb and brachy-ectrodactyly syndrome|triphalangeal thumbs brachyectrodactyly|Carnevale-Hernández-del Castillo syndrome|triphalangeal thumb and brachyectrodactyly syndrome|triphalangeal thumbs with brachyectrodactyly	http://purl.obolibrary.org/obo/MONDO_0008607	Triphalangeal thumbs-brachyectrodactyly syndrome is characterised by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant.	http://identifiers.org/omim/190680|ORPHA:2947|MESH:C536564|UMLS:C1860804
MONDO:0008606	Say-field-Coldwell syndrome	biolink:Disease	mondo	OMIM:190650|ICD10:Q74.8|GARD:0000242|MESH:C536619|UMLS:C1860805|Orphanet:3133	gard_rare|ordo_malformation_syndrome	polydactyly with triphalangeal thumbs, brachydactyly, camptodactyly, congenital dislocation of the patellas, short stature and borderline intelligence|triphalangeal thumbs and dislocation of patella|triphalangeal thumbs-dislocation of patella syndrome	http://purl.obolibrary.org/obo/MONDO_0008606	Say-Field-Coldwell syndrome is characterised by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters.	ORPHA:3133|http://identifiers.org/omim/190650|MESH:C536619|UMLS:C1860805
MONDO:0008605	triphalangeal thumb, Nonopposable	biolink:Disease	mondo	OMIM:190600|UMLS:C2931238|GARD:0005288|MESH:C536562		non-opposable triphalangeal thumb|triphalangeal thumb non opposable|TPT|triphalangeal thumb, Nonopposable	http://purl.obolibrary.org/obo/MONDO_0008605		http://identifiers.org/omim/190600|MESH:C536562|UMLS:C2931238
MONDO:0008604	triphalangeal thumb with double phalanges	biolink:Disease	mondo	UMLS:C1860807|MESH:C566028|OMIM:190500		triphalangeal thumb with double phalanges	http://purl.obolibrary.org/obo/MONDO_0008604		http://identifiers.org/omim/190500|MESH:C566028|UMLS:C1860807
MONDO:0008603	trigonocephaly 1	biolink:Disease	mondo	OMIM:190440		TRIGNO1|isolated trigonocephaly caused by mutation in FGFR1|trigonocephaly type 1|trigonocephaly 1|trigonocephaly 1; TRIGNO1|craniosynostosis, metopic|FGFR1 isolated trigonocephaly	http://purl.obolibrary.org/obo/MONDO_0008603	Any isolated trigonocephaly in which the cause of the disease is a mutation in the FGFR1 gene.	http://identifiers.org/omim/190440
MONDO:0008602	triglyceride storage disease, type 2	biolink:Disease	mondo	UMLS:C1860820|OMIM:190430|MESH:C566030		triglyceride storage disease, type II	http://purl.obolibrary.org/obo/MONDO_0008602		MESH:C566030|UMLS:C1860820|http://identifiers.org/omim/190430
HGNC:3647	FECH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3647		
MONDO:0008601	triglyceride storage disease, type 1	biolink:Disease	mondo	UMLS:C1860821|OMIM:190420|MESH:C566031		triglyceride storage disease, type I	http://purl.obolibrary.org/obo/MONDO_0008601		MESH:C566031|UMLS:C1860821|http://identifiers.org/omim/190420
MONDO:0008600	trigger thumb	biolink:Disease	mondo	GARD:0008484|SCTID:42786005|MESH:D052582|OMIM:190410|UMLS:C0158328	gard_rare	trigger thumb|bilateral trigger thumb (type)|congenital trigger thumb (type)|recurrent trigger thumb (type)	http://purl.obolibrary.org/obo/MONDO_0008600	A painful disability in the hand affecting the finger or thumb. It is caused by mechanical impingement of the digital flexor tendons as they pass through a narrowed retinacular pulley at the level of the metacarpal head. Thickening of the sheath and fibrocartilaginous metaplasia can occur, and nodules can form. (From Green's Operative Hand Surgery, 5th ed, p2137-58).	UMLS:C0158328|MESH:D052582|http://identifiers.org/omim/190410|SNOMEDCT:42786005
UBERON:0005463	subcapsular sinus of lymph node	biolink:AnatomicalEntity	mondo			marginal sinus|lymph node subcortical sinus|marginal sinus of lymph node|subcapsular sinus|lymph sinus|lymph path	http://purl.obolibrary.org/obo/UBERON_0005463	A space between the capsule and the cortex which allows the free movement of lymphatic fluid and so contains a sparsity of lymphocytes. It is continuous with the similar lymph sinuses that flank the trabeculae.	
UBERON:0005462	lower back	biolink:AnatomicalEntity	mondo			lumbar part of back|loin|lombus|posterior part of abdomen|dorsum of abdomen|lumbos|back of abdomen|lumbar region|regio lumbalis|lower back|abdominal back|lumbar region of back	http://purl.obolibrary.org/obo/UBERON_0005462	Subdivision of abdominal segment of trunk which in humans is demarcated from the front of the abdomen by the posterior surface of the anterior layer of the thoracolumbar fascia and the anterior surface of the lumbar vertebral column; together with the front of the abdomen, it constitutes the abdomen[Modified from FMA].	
UBERON:0005461	levator scapulae muscle	biolink:AnatomicalEntity	mondo			levator scapulæ|levator scapula|levator scapulae|levator scapulae muscle|musculus levator scapulae	http://purl.obolibrary.org/obo/UBERON_0005461	An axial muscle that originates in the cervical vertebraae inserts on the scapula.	
UBERON:0005460	left vitelline vein	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005460	A vitelline vein that is in the left side of a multicellular organism.	
CHEBI:17015	riboflavin	biolink:ChemicalSubstance	mondo			riboflavin|Riboflavin|Lactoflavin|vitamin G|7,8-Dimethyl-10-ribitylisoalloxazine|riboflavin|1-deoxy-1-(7,8-dimethyl-2,4-dioxo-3,4-dihydrobenzo[g]pteridin-10(2H)-yl)pentitol|6,7-dimethyl-9-D-ribitylisoalloxazine|7,8-dimethyl-10-(D-ribo-2,3,4,5-tetrahydroxypentyl)benzo[g]pteridine-2,4(3H,10H)-dione|riboflavine|RIBOFLAVINE|7,8-dimethyl-10-(D-ribo-2,3,4,5-tetrahydroxypentyl)isoalloxazine|Vitamin B2|vitamin B2|E101|riboflavina|riboflavinum|5-deoxy-5-(7,8-dimethyl-2,4-dioxo-3,4-dihydrobenzo[g]pteridin-10(2H)-yl)-D-ribitol	http://purl.obolibrary.org/obo/CHEBI_17015	D-Ribitol in which the hydroxy group at position 5 is substituted by a 7,8-dimethyl-2,4-dioxo-3,4-dihydrobenzo[g]pteridin-10(2H)-yl moiety. It is a nutritional factor found in milk, eggs, malted barley, liver, kidney, heart, and leafy vegetables, but the richest natural source is yeast. The free form occurs only in the retina of the eye, in whey, and in urine; its principal forms in tissues and cells are as flavin mononucleotide and flavin-adenine dinucleotide.	
UBERON:0005469	right thymus lobe	biolink:AnatomicalEntity	mondo			right thymic lobe|right lobe of thymus	http://purl.obolibrary.org/obo/UBERON_0005469	A thymus lobe that is in the right side of a thymus.	
NCBITaxon:41012	Tineidae	organism taxon	mondo	GC_ID:1		clothes-moths|clothes moths|fungus moths	http://purl.obolibrary.org/obo/NCBITaxon_41012		
NCBITaxon:41011	Tineoidea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_41011		
NCBITaxon:41013	Tinea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_41013		
UBERON:0005451	segment of manus	biolink:AnatomicalEntity	mondo			subdivision of hand|regio manus|hand subdivision|segment of hand|hand region	http://purl.obolibrary.org/obo/UBERON_0005451	A segment of autopod that is part of a manus.	
HGNC:3668	FGF12	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3668		
HGNC:3666	FGF10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3666		
UBERON:0005457	left thymus lobe	biolink:AnatomicalEntity	mondo			left lobe of thymus|left thymic lobe	http://purl.obolibrary.org/obo/UBERON_0005457	A thymus lobe that is in the left side of a thymus.	
UBERON:0005456	jugular foramen	biolink:AnatomicalEntity	mondo			Posterior lacerate foramen|foramen jugulare	http://purl.obolibrary.org/obo/UBERON_0005456	The jugular foramen is a large aperture in the base of the skull. It is located behind the carotid canal and is formed in front by the petrous portion of the temporal, and behind by the occipital; it is generally larger on the right than on the left side	
HGNC:3663	FGD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3663		
HGNC:3662	FGB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3662		
HGNC:3661	FGA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3661		
HP:0001156	Brachydactyly	biolink:PhenotypicFeature	mondo	UMLS:C0221357|SNOMEDCT_US:43476002|MSH:D059327		Brachydactyly syndrome|Short fingers or toes	http://purl.obolibrary.org/obo/HP_0001156	Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.	
HGNC:3671	FGF14	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3671		
HP:0001155	Abnormality of the hand	biolink:PhenotypicFeature	mondo	MSH:D006226|UMLS:C0018564|SNOMEDCT_US:299033004	hposlim_core	Abnormal hands|Hand deformities|Hand anomalies|Abnormality of the hand	http://purl.obolibrary.org/obo/HP_0001155	An abnormality affecting one or both hands.	
HP:0001159	Syndactyly	biolink:PhenotypicFeature	mondo	Fyler:4174|MSH:D013576|SNOMEDCT_US:373413006|UMLS:C0039075		Webbed fingers or toes	http://purl.obolibrary.org/obo/HP_0001159	Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".	
HGNC:18505	RNF43	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18505		
UBERON:0005448	greater omentum	biolink:AnatomicalEntity	mondo			epiploic|epiploön|omentum majus|gastrocolic omentum|caul|epiploon|epiplooen|omentectomy|great omentum	http://purl.obolibrary.org/obo/UBERON_0005448	The greater omentum (also the great omentum, omentum majus, gastrocolic omentum, epiploön, or, especially in animals, caul) is a large fold of peritoneum that hangs down from the stomach, and extends from the stomach to the posterior abdominal wall after associating with the transverse colon.	
HGNC:3677	FGF20	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3677		
HGNC:1014	BCR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1014		
HGNC:18501	RPS4Y2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18501		
UBERON:0005446	foramen rotundum	biolink:AnatomicalEntity	mondo			round foramen|foramen rotundum of the skull|foramen rotundum ossis sphenoidalis	http://purl.obolibrary.org/obo/UBERON_0005446	The foramen rotundum is a circular hole in the sphenoid bone that connects the middle cranial fossa and the pterygopalatine fossa.	
HGNC:1012	OPN1SW	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1012		
UBERON:0005445	segment of pes	biolink:AnatomicalEntity	mondo			segment of foot|subdivision of foot|regio pedis|foot subdivision|foot region	http://purl.obolibrary.org/obo/UBERON_0005445	A segment of autopod that is part of a pes.	
HP:0001153	Septate vagina	biolink:PhenotypicFeature	mondo	UMLS:C0266411|SNOMEDCT_US:47054003		Double vagina	http://purl.obolibrary.org/obo/HP_0001153	The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases.	
HGNC:3673	FGF17	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3673		
HGNC:3672	FGF16	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3672		
MONDO:0008639	vascular helix of umbilical cord	biolink:Disease	mondo	OMIM:192300		vascular helix of umbilical cord	http://purl.obolibrary.org/obo/MONDO_0008639		http://identifiers.org/omim/192300
MONDO:0008638	varicose disease	biolink:Disease	mondo	ICD10:I83.90|COHD:312349|ICD9:456.8|NCIT:C35114|ICD9:454.9|DOID:799|OMIM:192200|MESH:D014648|SCTID:128060009|UMLS:C0042345		varicose veins|varices|varicose veins|varix|Venous ectasia|varicose vein|Venous varices|varices	http://purl.obolibrary.org/obo/MONDO_0008638	A vascular disease characterized by the presence of enlarged and tortuous veins.	MESH:D014648|UMLS:C0042345|DOID:799|SNOMEDCT:128060009|http://identifiers.org/omim/192200|NCIT:C35114
MONDO:0008637	bifid uvula	biolink:Disease	mondo	ICD10:Q35.7|OMIM:192100|Orphanet:99771|SCTID:18910001	ordo_morphological_anomaly	bifidity of the uvula|uvula, bifid|uvula, cleft|uvular cleft	http://purl.obolibrary.org/obo/MONDO_0008637	Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.	ORPHA:99771|http://identifiers.org/omim/192100|SNOMEDCT:18910001
MONDO:0008636	double uterus-hemivagina-renal agenesis syndrome	biolink:Disease	mondo	SCTID:722431007|MESH:C566010|OMIM:192050|Orphanet:3411	ordo_malformation_syndrome	uterus BICORNIS BICOLLIS with partial vaginal septum and unilateral HEMATOCOLPOS with ipsilateral renal agenesis|Double uterus and obstructed hemivagina syndrome|Wunderlich syndrome|obstructed hemivagina and ipsilateral renal anomaly|Herlyn-Werner syndrome|OHVIRA syndrome	http://purl.obolibrary.org/obo/MONDO_0008636	Double uterus, hemivagina and renal agenesis is a rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present.	http://identifiers.org/omim/192050|ORPHA:3411|SNOMEDCT:722431007|MESH:C566010
MONDO:0008635	uterine anomalies	biolink:Disease	mondo	OMIM:192000|MESH:C562565		uterine anomalies	http://purl.obolibrary.org/obo/MONDO_0008635		http://identifiers.org/omim/192000|MESH:C562565
MONDO:0008634	urticaria, familial localized heat	biolink:Disease	mondo	OMIM:191950|UMLS:C1860551|MESH:C566011		urticaria, familial localized heat	http://purl.obolibrary.org/obo/MONDO_0008634		UMLS:C1860551|http://identifiers.org/omim/191950|MESH:C566011
MONDO:0008633	Muckle-Wells syndrome	biolink:Disease	mondo	GARD:0008472|ICD10:E85.0|MedDRA:10064569|NCIT:C119054|ICD9:708.8|OMIM:191900|SCTID:402417009|UMLS:C0268390|UMLS:C1304205|DOID:0050854|Orphanet:575	ordo_disease	urticaria, deafness and amyloidosis|urticaria-deafness-amyloidosis syndrome|MUCKLE-Wells syndrome; MWS|Cryopyrin-associated periodic syndrome 2|Muckle Wells syndrome|Uda syndrome|neutrophilic urticaria|Muckle-Wells syndrome|MWS	http://purl.obolibrary.org/obo/MONDO_0008633	Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).	MEDDRA:10064569|ORPHA:575|SNOMEDCT:402417009|DOID:0050854|NCIT:C119054|http://identifiers.org/omim/191900|UMLS:C0268390|UMLS:C1304205
MONDO:0008632	urticaria, aquagenic	biolink:Disease	mondo	MESH:C562481|OMIM:191850|SCTID:89870006|ICD9:708.8|GARD:0010901|UMLS:C0263334	gard_rare	urticaria, aquagenic|aquagenic urticaria	http://purl.obolibrary.org/obo/MONDO_0008632	Aquagenic urticaria is a rare condition in which urticaria (hives) develop rapidly after the skin comes in contact with water, regardless of its temperature. It most commonly affects women and symptoms often start around the onset of puberty. Some patients report itching too. It is a form of physical urticaria . The exact underlying cause of aquagenic urticaria is currently unknown. Due to the rarity of the condition, there is very limited data regarding the effectiveness of individual treatments; however, various medications and therapies have been used with variable success.	SNOMEDCT:89870006|UMLS:C0263334|MESH:C562481|http://identifiers.org/omim/191850
MONDO:0008631	obsolete renal agenesis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0008631		
MONDO:0008630	urinary bladder, atony of	biolink:Disease	mondo	OMIM:191800		atony of urinary bladder|urinary bladder, atony of	http://purl.obolibrary.org/obo/MONDO_0008630		http://identifiers.org/omim/191800
HGNC:3681	FGF3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3681		
HGNC:1020	BCS1L	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1020		
HGNC:3680	FGF23	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3680		
HGNC:3689	FGFR2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3689		
HGNC:3688	FGFR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3688		
HGNC:3687	FGF9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3687		
MONDO:0021605	benign eyelid neoplasm	biolink:Disease	mondo	UMLS:C0339107|SCTID:231824001|NCIT:C4354		benign tumor of eyelid|benign tumor of the eyelid|benign neoplasm of eyelid|eyelid benign neoplasm|benign neoplasm of the eyelid|benign eyelid tumor|benign eyelid neoplasm	http://purl.obolibrary.org/obo/MONDO_0021605	A non-metastasizing neoplasm that arises from the upper or lower eyelid.	NCIT:C4354|SNOMEDCT:231824001|UMLS:C0339107
HGNC:3686	FGF8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3686		
MONDO:0021607	eyelid seborrheic keratosis	biolink:Disease	mondo	UMLS:C0339109|SCTID:231826004|NCIT:C4356		eyelid basal cell papilloma|eyelid seborrheic keratosis|seborrheic keratosis of eyelid|seborrheic keratosis of the eyelid|basal cell papilloma of eyelid|basal cell papilloma of the eyelid	http://purl.obolibrary.org/obo/MONDO_0021607	A seborrheic keratosis that involves the eyelid.	NCIT:C4356|SNOMEDCT:231826004|UMLS:C0339109
HGNC:3683	FGF5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3683		
MONDO:0008649	venular insufficiency, systemic	biolink:Disease	mondo	OMIM:192700|MESH:C566004|UMLS:C1860465		venular insufficiency, systemic	http://purl.obolibrary.org/obo/MONDO_0008649		UMLS:C1860465|http://identifiers.org/omim/192700|MESH:C566004
MONDO:0008648	ventricular tachycardia, familial	biolink:Disease	mondo	GARD:0002263|SCTID:233906007|OMIM:192605		familial ventricular tachycardia|ventricular tachycardia, familial polymorphic|ventricular tachycardia, familial|hereditary ventricular tachycardia	http://purl.obolibrary.org/obo/MONDO_0008648	An instance of ventricular tachycardia that is caused by an inherited modification of the individual's genome.	http://identifiers.org/omim/192605|SNOMEDCT:233906007
MONDO:0008647	hypertrophic cardiomyopathy 1	biolink:Disease	mondo	DOID:0110307|OMIM:192600		asymmetric septal Hypertrophy|cardiomyopathy, familial hypertrophic, type 1|cardiomyopathy, familial hypertrophic 1|CMH1|MYH7 hypertrophic cardiomyopathy|Cmh|hypertrophic subaortic stenosis, idiopathic|cardiomyopathy, familial hypertrophic, 1|hypertrophic cardiomyopathy caused by mutation in MYH7|hypertrophic cardiomyopathy type 1|ventricular Hypertrophy, hereditary|cardiomyopathy, familial hypertrophic, 1; CMH1	http://purl.obolibrary.org/obo/MONDO_0008647	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene.	DOID:0110307|http://identifiers.org/omim/192600
MONDO:0008646	long QT syndrome 1	biolink:Disease	mondo	MedDRA:10039211|Orphanet:101016|DOID:0110644|NCIT:C85049|ICD10:I45.8|SCTID:20852007|GARD:0003284|OMIM:192500|UMLS:C0035828	prototype_pattern|ordo_clinical_subtype|clingen	Romano-Ward long QT syndrome|long QT syndrome type 1|long QT syndrome 1/2, digenic|long QT syndrome 1; LQT1|ventricular fibrillation with prolonged QT interval|long QT syndrome 1, acquired, susceptibility to|Ward-Romano syndrome|LQT1|Romano-Ward syndrome|long QT syndrome 1	http://purl.obolibrary.org/obo/MONDO_0008646	Romano-Ward syndrome (RWS) is an autosomal dominant variant of the long QT syndrome (LQTS) characterized by syncopal episodes and electrocardiographic abnormalities (QT prolongation, T-wave abnormalities and torsade de pointes (TdP) ventricular tachycardia).	DOID:0110644|NCIT:C85049|http://identifiers.org/omim/192500|ORPHA:101016|UMLS:C0035828|MEDDRA:10039211|MESH:D029597|SNOMEDCT:20852007
MONDO:0008645	ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome	biolink:Disease	mondo	ICD10:Q87.8|SCTID:719823007|Orphanet:3201|MESH:C537497|OMIM:192445|GARD:0005472	ordo_malformation_syndrome	Stoll-Kieny-Dott syndrome|ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence|ventricular extrasystoles with syncope, perodactyly, and ROBIN sequence|ventricular extrasystoles perodactyly Robin sequence	http://purl.obolibrary.org/obo/MONDO_0008645	This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence.	http://identifiers.org/omim/192445|ORPHA:3201|MESH:C537497|SNOMEDCT:719823007
MONDO:0008644	velocardiofacial syndrome	biolink:Disease	mondo	ICD9:758.32|DOID:12583|UMLS:CN205308|OMIM:192430|ICD10:Q93.81		chromosome 22Q11.2 deletion syndrome|Shprintzen Vcf syndrome|22q11 deletion syndrome|deletion 22q11.2 syndrome|Shprintzen syndrome|Vcf syndrome|VCF-velocardiofacial syndrome|velocardiofacial syndrome	http://purl.obolibrary.org/obo/MONDO_0008644	A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features.	UMLS:CN205308|DOID:12583|http://identifiers.org/omim/192430
MONDO:0008643	veins, pattern of, on anterior thorax	biolink:Disease	mondo	OMIM:192400		veins, pattern of, on anterior thorax	http://purl.obolibrary.org/obo/MONDO_0008643		http://identifiers.org/omim/192400
MONDO:0008642	VACTERL/vater association	biolink:Disease	mondo	UMLS:C1735591|UMLS:CN206312|DOID:14679|ICD9:759.89|ICD10:Q87.2|MedDRA:10053665|SCTID:27742002|NCIT:C99105|OMIM:192350|GARD:0005443|UMLS:C0220708|Orphanet:887|MedDRA:10066022	ordo_malformation_syndrome	VACTERL association|VATER/VACTERL association|vertebral abnormalities, anal atresia, Cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome|VATER syndrome|VATER association	http://purl.obolibrary.org/obo/MONDO_0008642	VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.	DOID:14679|UMLS:C1735591|ORPHA:887|UMLS:CN206312|http://identifiers.org/omim/192350|UMLS:C0220708|MEDDRA:10066022|SNOMEDCT:27742002|MEDDRA:10053665|MESH:C536495|NCIT:C99105|MESH:C536534
MONDO:0008641	retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	biolink:Disease	mondo	DOID:0111567|SCTID:721141004|OMIM:192315|GARD:0001217|GARD:0010535|MESH:C566007|SCTID:720854004|UMLS:C1860518|Orphanet:247691|GARD:0002558	ordo_disease|gard_rare	grand Kaine fulling syndrome|ADRVCL|hereditary vascular retinopathy|retinal vasculopathy and cerebral leukoencephalopathy|RVCL|vasculopathy, retinal, with cerebral leukodystrophy; RVCL|RVCL-S|cerebroretinal vasculopathy, hereditary|grand-Kaine-fulling syndrome|autosomal dominant retinal vasculopathy with cerebral leukodystrophy|cerebroretinal vasculopathy|CRV|retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena|retinal vasculopathy with cerebral leukodystrophy|HVR|vasculopathy, retinal, with cerebral leukodystrophy	http://purl.obolibrary.org/obo/MONDO_0008641	Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.	http://identifiers.org/omim/192315|SNOMEDCT:720854004|ORPHA:247691|SNOMEDCT:721141004|MESH:C566007|UMLS:C1860518|DOID:0111567
MONDO:0008640	vasculitis, lymphocytic, nodular	biolink:Disease	mondo	GARD:0006941|OMIM:192310|UMLS:C1860519|MESH:C566008	gard_rare	vasculitis lymphocytic, nodular|vasculitis, lymphocytic, nodular|lymphocytic vasculitis	http://purl.obolibrary.org/obo/MONDO_0008640	Lymphocytic vasculitis is one of several skin conditions which are collectively referred to as cutaneous vasculitis. In lymphocytic vasculitis, white blood cells (lymphocytes) cause damage to blood vessels in the skin. This condition is thought to be caused by a number of factors, but the exact cause of most cases is not known. This disease can present with a variety of symptoms, depending on the size, location, and severity of the affected area. In a minority of patients, cutaneous vasculitis can be part of a more severe vasculitis affecting other organs in the body - this is known as systemic vasculitis.	http://identifiers.org/omim/192310|MESH:C566008|UMLS:C1860519
HGNC:3693	FGFRL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3693		
HGNC:3690	FGFR3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3690		
HGNC:1037	CFB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1037		
HGNC:3694	FGG	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3694		
HGNC:1033	BDNF	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1033		
MONDO:0008619	ulna metaphyseal dysplasia syndrome	biolink:Disease	mondo	Orphanet:1837|UMLS:C1860615|ICD10:Q78.5|SCTID:715242008|OMIM:191420|GARD:0004740|MESH:C536935	gard_rare|ordo_disease	Rosenberg Lohr syndrome|metaphyseal chondroplasia Rosenberg type|Rosenberg-Lohr syndrome|metaphyseal chondrodysplasia, Rosenberg type|hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna|ulna metaphyseal dysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0008619	Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga.	ORPHA:1837|UMLS:C1860615|SNOMEDCT:715242008|MESH:C536935|http://identifiers.org/omim/191420
MONDO:0008618	mesomelic dwarfism, Reinhardt-Pfeiffer type	biolink:Disease	mondo	UMLS:C1860616|MESH:C537349|OMIM:191400|Orphanet:2634|SCTID:715472000|ICD10:Q78.8|GARD:0003555	ordo_malformation_syndrome	hypoplasia of ulna and fibula|mesomelic dysplasia Reinhardt-Pfeiffer type|ulna and fibula, hypoplasia OF|mesomelic dwarfism of hypoplastic ulna and fibula type|Reinhardt-Pfeiffer syndrome|Reinhardt-Pfeiffer mesomelic dysplasia	http://purl.obolibrary.org/obo/MONDO_0008618	Mesomelic dwarfism, Reinhardt-Pfeiffer type is characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.	SNOMEDCT:715472000|ORPHA:2634|MESH:C537349|UMLS:C1860616|http://identifiers.org/omim/191400
MONDO:0008617	inflammatory bowel disease 11	biolink:Disease	mondo	OMIM:191390|UMLS:C2674051|MESH:C567154|DOID:0110894		inflammatory bowel disease 11; IBD11|IBD11|inflammatory bowel disease type 11|inflammatory bowel disease 11	http://purl.obolibrary.org/obo/MONDO_0008617	An inflammatory bowel disease that has material basis in variation in the chromosome region 7q22.	MESH:C567154|UMLS:C2674051|DOID:0110894|http://identifiers.org/omim/191390
MONDO:0008616	twinning due to superfetation	biolink:Disease	mondo	MESH:C566018|OMIM:191250		superfetation twinning|twinning due to superfetation	http://purl.obolibrary.org/obo/MONDO_0008616		MESH:C566018|http://identifiers.org/omim/191250
MONDO:0008615	tune deafness	biolink:Disease	mondo	MESH:C566019|UMLS:C1860646|SCTID:55647004|ICD9:389.8|OMIM:191200		Dysmelodia|tone deafness|tune deafness|amusia, congenital	http://purl.obolibrary.org/obo/MONDO_0008615		MESH:C566019|UMLS:C1860646|http://identifiers.org/omim/191200|SNOMEDCT:55647004
MONDO:0008614	ST3	biolink:Disease	mondo	OMIM:191181|UMLS:C1860658		ST3|tumor-suppressor Gene, Hela cell type|suppressor of tumorigenicity 3|suppressor of tumorigenicity 3; ST3|cervical carcinoma, tumor-suppressor Gene involved 1N	http://purl.obolibrary.org/obo/MONDO_0008614		UMLS:C1860658|http://identifiers.org/omim/191181
MONDO:0008613	Tuftsin deficiency	biolink:Disease	mondo	UMLS:C0398741|ICD9:279.03|MESH:C562872|SCTID:234584007|OMIM:191150		Tuftsin deficiency	http://purl.obolibrary.org/obo/MONDO_0008613		SNOMEDCT:234584007|UMLS:C0398741|http://identifiers.org/omim/191150|MESH:C562872
MONDO:0008612	tuberous sclerosis 1	biolink:Disease	mondo	NCIT:C75122|DOID:0080324|OMIM:191100|GARD:0005380	gard_rare	tuberous sclerosis 1|tuberous sclerosis Complex|tuberous sclerosis caused by mutation in TSC1|TSC1|tuberous sclerosis type 1|tuberous sclerosis, type 1|tuberose sclerosis|tuberous sclerosis 1; TSC1|TSC1 tuberous sclerosis	http://purl.obolibrary.org/obo/MONDO_0008612	Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene).	DOID:0080324|NCIT:C75122|http://identifiers.org/omim/191100
MONDO:0008611	humerus trochlea aplasia	biolink:Disease	mondo	UMLS:C1860773|OMIM:191000|GARD:0002750|MESH:C566022|SCTID:732928005|ICD10:Q74.0|Orphanet:3383	gard_rare|ordo_malformation_syndrome	trochlea of the HUMERUS, aplasia OF|aplasia of trochlea of the humerus|trochlea of the humerus aplasia of	http://purl.obolibrary.org/obo/MONDO_0008611	Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.	SNOMEDCT:732928005|MESH:C566022|UMLS:C1860773|http://identifiers.org/omim/191000|ORPHA:3383
MONDO:0008610	blue color blindness	biolink:Disease	mondo	UMLS:C0155017|ICD10:H53.5|OMIM:190900|SCTID:51886007|ICD10:H53.55|ICD9:368.53|Orphanet:88629|DOID:11661	ordo_disease	blue colorblindness|congenital tritanopia|colorblindness, tritanopic|tritanopia|tritan defect|tritan colour blindness|colorblindness, tritan|blue colour blindness	http://purl.obolibrary.org/obo/MONDO_0008610	Tritanopia is an extremely rare form of colour blindness characterised by a selective deficiency of blue vision.	UMLS:C0155017|SNOMEDCT:51886007|DOID:11661|ORPHA:88629|http://identifiers.org/omim/190900
UBERON:0005497	non-neural ectoderm	biolink:AnatomicalEntity	mondo			epithelial ectoderm|ventral ectoderm|epidermal ectoderm|surface ectoderm|non neural ectoderm	http://purl.obolibrary.org/obo/UBERON_0005497		
HGNC:1041	BFSP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1041		
UBERON:0005496	neural tube lateral wall	biolink:AnatomicalEntity	mondo			lateral wall neural tube	http://purl.obolibrary.org/obo/UBERON_0005496	Portion of tissue on the side of the lumen of the neural tube.	
HGNC:1040	BFSP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1040		
UBERON:0005492	hyaloid vessel	biolink:AnatomicalEntity	mondo			hyaloid vasculature|hyaloid vessels|hyaloid capillary system|hyaloid vascular system|hyaloid blood vessels	http://purl.obolibrary.org/obo/UBERON_0005492	A blood vessel that is associated with the lens. In mammals, this is transient and normally nourishes the retina, immature lens and primary vitreous of the developing eye.	
UBERON:0005491	glossopharyngeal neural crest	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005491	Cranial neural crest which gives rise to the glossopharyngeal ganglion.	
CHEBI:32600	tetracene	biolink:ChemicalSubstance	mondo			benz[b]anthracene|tetracene|2,3-benzanthracene|naphthacene	http://purl.obolibrary.org/obo/CHEBI_32600	An acene that consists of four ortho-fused benzene rings in a rectilinear arrangement.	
HP:0025153	Transient	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0025153	Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration.	
UBERON:0005499	rhombomere 1	biolink:AnatomicalEntity	mondo			r1	http://purl.obolibrary.org/obo/UBERON_0005499	Hindbrain segment or neuromere 1.	
UBERON:0005498	primitive heart tube	biolink:AnatomicalEntity	mondo			early primitive heart tube|primitive heart tube	http://purl.obolibrary.org/obo/UBERON_0005498	Multi-tissue structure that arises from the heart rudiment and will become the heart tube.	
HGNC:1044	BGN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1044		
MONDO:0008629	urolithiasis, uric acid, autosomal dominant	biolink:Disease	mondo	DOID:0080654|OMIM:191700		urolithiasis, uric acid, autosomal dominant|nephrolithiasis, uric acid, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008629		DOID:0080654|http://identifiers.org/omim/191700
MONDO:0008628	ureterocele (disease)	biolink:Disease	mondo	DOID:4022|COHD:192440|HP:0000070|SCTID:12818004|MedDRA:10056433|MESH:D014518|OMIM:191650|NCIT:C123159|EFO:1001227|ICD9:593.89		ureterocele	http://purl.obolibrary.org/obo/MONDO_0008628	A cystic and dysplastic dilation of the distal ureter within the bladder that may extend into the bladder neck and urethra.	MESH:D014518|SNOMEDCT:12818004|DOID:4022|http://identifiers.org/omim/191650|NCIT:C123159
MONDO:0008627	ureter cancer	biolink:Disease	mondo	MESH:D014516|NCIT:C7543|OMIM:191600|UMLS:C0153619|ICD10:C66|SCTID:363458004|DOID:11819|ICD9:189.2		ureter, cancer OF|malignant ureteral neoplasm|malignant tumor of ureter|cancer of ureter|malignant tumor of the ureter|ureter cancer|malignant ureter neoplasm|malignant tumour of ureter|malignant neoplasm of ureter|malignant ureter tumor|malignant ureteral tumor|malignant neoplasm of the ureter	http://purl.obolibrary.org/obo/MONDO_0008627	A malignant neoplasm involving the ureter	MESH:D014516|NCIT:C7543|SNOMEDCT:363458004|DOID:11819|http://identifiers.org/omim/191600|UMLS:C0153619
MONDO:0008626	ureter, bifid or double	biolink:Disease	mondo	UMLS:C1860586|MESH:C566012|OMIM:191550		ureter, bifid or double	http://purl.obolibrary.org/obo/MONDO_0008626		MESH:C566012|UMLS:C1860586|http://identifiers.org/omim/191550
MONDO:0008625	urate-binding globulin, decrease 1N	biolink:Disease	mondo	UMLS:C1860587|MESH:C566013|OMIM:191530		urate-binding globulin, decrease type 1N|urate-binding globulin, decrease IN	http://purl.obolibrary.org/obo/MONDO_0008625		MESH:C566013|UMLS:C1860587|http://identifiers.org/omim/191530
MONDO:0008624	Upington disease	biolink:Disease	mondo	OMIM:191520|SCTID:719041000|UMLS:C1860596|MESH:C536472|ICD10:M91.8|GARD:0005421|Orphanet:3408	gard_rare|ordo_malformation_syndrome	familial dyschondroplasia|Perthes-like hip disease, enchondromata, and Ecchondromata|Upington disease|hip dysplasia-enchondromata-ecchondroma syndrome	http://purl.obolibrary.org/obo/MONDO_0008624	Upington disease is characterised by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant.	UMLS:C1860596|MESH:C536472|http://identifiers.org/omim/191520|ORPHA:3408|SNOMEDCT:719041000
MONDO:0008623	Undritz anomaly	biolink:Disease	mondo	UMLS:C1860604|MESH:C566014|OMIM:191500		Undritz anomaly|hypersegmentation of nuclei of polymorphonuclear leukocytes	http://purl.obolibrary.org/obo/MONDO_0008623		UMLS:C1860604|http://identifiers.org/omim/191500|MESH:C566014
MONDO:0008622	tricho-retino-dento-digital syndrome	biolink:Disease	mondo	Orphanet:1264|OMIM:191482|MESH:C536576|SCTID:719910004|ICD10:Q82.4|UMLS:C1860605|GARD:0000938	ordo_malformation_syndrome	Bork syndrome|uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome|Bork Stender Schmidt syndrome|uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly	http://purl.obolibrary.org/obo/MONDO_0008622	Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.	ORPHA:1264|UMLS:C1860605|MESH:C536576|SNOMEDCT:719910004|http://identifiers.org/omim/191482
MONDO:0008621	uncombable hair syndrome	biolink:Disease	mondo	GARD:0005404|MESH:C536939|DC:0000734|UMLS:C0432347|Orphanet:1410|ICD10:Q84.1|SCTID:254230001	gard_rare|ordo_disease	unmanageable hair syndrome|uncombable hair syndrome|spun glass hair|pili trianguli et canaliculi|cheveux incoiffables	http://purl.obolibrary.org/obo/MONDO_0008621	Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia.	ORPHA:1410|SNOMEDCT:254230001|UMLS:C0432347|MESH:C536939
MONDO:0008620	upper limb mesomelic dysplasia	biolink:Disease	mondo	ICD10:Q78.8|OMIM:191440|Orphanet:2497|MESH:C538069|GARD:0002408	ordo_malformation_syndrome	upper limb mesomelic dysplasia|Fryns-Hofkens-Fabry syndrome|ulnar hypoplasia|ulna hypoplasia|Fryns Hofkens Fabry syndrome	http://purl.obolibrary.org/obo/MONDO_0008620	This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity.	UMLS:C1860614|http://identifiers.org/omim/191440|MESH:C538069|ORPHA:2497
UBERON:0005486	venous dural sinus	biolink:AnatomicalEntity	mondo			dural sinus|cranial dural venous sinus|venous dural sinus|venous dural|dural venous sinus|dural vein|s. durae matris	http://purl.obolibrary.org/obo/UBERON_0005486	A venous channel found between layers of dura mater in the brain. Receives blood from internal and external veins of the brain, receive cerebrospinal fluid (CSF) from the subarachnoid space, and ultimately empty into the internal jugular vein.	
HGNC:1052	BIN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1052		
GO:0043604	amide biosynthetic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0043604	The chemical reactions and pathways resulting in the formation of an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group.	
UBERON:0005484	tricuspid valve leaflet	biolink:AnatomicalEntity	mondo			tricuspid valve leaflet|tricuspid valve leaflets|leaflet of tricuspid valve|tricuspid valvular leaflet	http://purl.obolibrary.org/obo/UBERON_0005484	A valve leaflet that is part of a tricuspid valve.	
UBERON:0005483	thymus lobe	biolink:AnatomicalEntity	mondo			lateral lobe of thymus|lobe of thymus	http://purl.obolibrary.org/obo/UBERON_0005483	Either of the two lateral lobes that constitute the thymus.	
GO:0043603	cellular amide metabolic process	biolink:OntologyClass	mondo			amide metabolism	http://purl.obolibrary.org/obo/GO_0043603	The chemical reactions and pathways involving an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group, as carried out by individual cells.	
HGNC:1058	BLM	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1058		
HGNC:1059	BLMH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1059		
HP:0001197	Abnormality of prenatal development or birth	biolink:PhenotypicFeature	mondo	UMLS:C4025797		Abnormality of prenatal development or birth	http://purl.obolibrary.org/obo/HP_0001197	An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.	
HP:0025142	Constitutional symptom	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0025142	A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual.	
HGNC:1057	BLK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1057		
CHEBI:78017	food propellant	biolink:ChemicalSubstance	mondo			food propellants	http://purl.obolibrary.org/obo/CHEBI_78017	A propellant that is used to expel foods from an aerosol container.	
UBERON:0005487	vitelline vein	biolink:AnatomicalEntity	mondo			vein of omphalomesenteric system|embryonic vitelline vein|vascular vitelline network|vena vitellina|omphalomesenteric vein|vitelline veins	http://purl.obolibrary.org/obo/UBERON_0005487	the paired veins that carry blood from the yolk sac back to the embryo	
GO:0006665	sphingolipid metabolic process	biolink:OntologyClass	mondo			sphingolipid metabolism	http://purl.obolibrary.org/obo/GO_0006665	The chemical reactions and pathways involving sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid).	
GO:0004000	adenosine deaminase activity	biolink:OntologyClass	mondo			adenosine deaminase reaction|adenosine aminohydrolase activity	http://purl.obolibrary.org/obo/GO_0004000	Catalysis of the reaction: adenosine + H2O = inosine + NH3.	
GO:0006664	glycolipid metabolic process	biolink:OntologyClass	mondo			glycolipid metabolism	http://purl.obolibrary.org/obo/GO_0006664	The chemical reactions and pathways involving glycolipids, a class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). Some substances classified as bacterial glycolipids have the sugar group acylated by one or more fatty acids and the glycerol group may be absent.	
GO:0006661	phosphatidylinositol biosynthetic process	biolink:OntologyClass	mondo			phosphatidylinositol synthesis|phosphatidylinositol formation|phosphatidylinositol biosynthesis|phosphoinositide biosynthetic process|phosphoinositide biosynthesis|PtdIns biosynthetic process|phosphatidylinositol anabolism|PtdIns biosynthesis	http://purl.obolibrary.org/obo/GO_0006661	The chemical reactions and pathways resulting in the formation of phosphatidylinositol, any glycophospholipid in which the sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol.	
GO:0006662	glycerol ether metabolic process	biolink:OntologyClass	mondo			glycerol ether metabolism	http://purl.obolibrary.org/obo/GO_0006662	The chemical reactions and pathways involving glycerol ethers, any anhydride formed between two organic hydroxy compounds, one of which is glycerol.	
CHEBI:30089	acetate	biolink:ChemicalSubstance	mondo			acetate|CH3-COO(-)|Ethanoat|Azetat|MeCO2 anion|ethanoate|ACETATE ION|acetic acid, ion(1-)	http://purl.obolibrary.org/obo/CHEBI_30089	A monocarboxylic acid anion resulting from the removal of a proton from the carboxy group of acetic acid.	
NCBITaxon:7496	Pterygota <insects>	organism taxon	mondo	GC_ID:1		Pterygota|winged insects	http://purl.obolibrary.org/obo/NCBITaxon_7496		
NCBITaxon:327045	Orthoretrovirinae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_327045		
CHEBI:30099	diazynediium	biolink:ChemicalSubstance	mondo			diazynediium|[HNNH](2+)|HNNH(2+)	http://purl.obolibrary.org/obo/CHEBI_30099		
GO:0006643	membrane lipid metabolic process	biolink:OntologyClass	mondo			membrane lipid metabolism	http://purl.obolibrary.org/obo/GO_0006643	The chemical reactions and pathways involving membrane lipids, any lipid found in or associated with a biological membrane.	
GO:0006644	phospholipid metabolic process	biolink:OntologyClass	mondo			phospholipid metabolism	http://purl.obolibrary.org/obo/GO_0006644	The chemical reactions and pathways involving phospholipids, any lipid containing phosphoric acid as a mono- or diester.	
GO:0006650	glycerophospholipid metabolic process	biolink:OntologyClass	mondo			phosphoglyceride metabolic process|phosphoglyceride metabolism|glycerophospholipid metabolism|alpha-glycerophosphate pathway	http://purl.obolibrary.org/obo/GO_0006650	The chemical reactions and pathways involving glycerophospholipids, any derivative of glycerophosphate that contains at least one O-acyl, O-alkyl, or O-alkenyl group attached to the glycerol residue.	
NCBITaxon:173087	Human papillomavirus types	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_173087		
GO:0006624	vacuolar protein processing	biolink:OntologyClass	mondo			vacuolar protein maturation|vacuolar proteolysis	http://purl.obolibrary.org/obo/GO_0006624	Protein processing that takes place in the vacuole. Most protein processing in the vacuole represents proteolytic cleavage of precursors to form active enzymes.	
UBERON:0005431	anterior spinal artery	biolink:AnatomicalEntity	mondo			arteria spinalis anterior|ventral spinal artery|ventral artery of the spinal cord|anterior spinal arteries|anterior medial spinal artery	http://purl.obolibrary.org/obo/UBERON_0005431	A blood vessel that supplies the anterior portion of the spinal cord. It arises from branches of the vertebral arteries and is supplied by the anterior segmental medullary arteries, including the artery of Adamkiewicz, and courses along the anterior aspect of the spinal cord.	
NCBITaxon:90010	unclassified Enterovirus	organism taxon	mondo	GC_ID:1		unclassified Enteroviruses	http://purl.obolibrary.org/obo/NCBITaxon_90010		
HGNC:3602	FBLN5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3602		
HGNC:3600	FBLN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3600		
UBERON:0005437	conus medullaris	biolink:AnatomicalEntity	mondo			medullary cone|termination of the spinal cord	http://purl.obolibrary.org/obo/UBERON_0005437	The conus medullaris is the terminal end of the spinal cord. It occurs near lumbar vertebral levels 1 (L1) and 2 (L2). After the spinal cord tapers out, the spinal nerves continue as dangling nerve roots called cauda equina. This terminal nerve root tail is referred to as the filum terminale. The upper end of the conus medullaris is usually not well defined.	
UBERON:0005434	cervical region	biolink:AnatomicalEntity	mondo			cervical region|subdivision of neck|region of neck|neck subdivision	http://purl.obolibrary.org/obo/UBERON_0005434		
GO:0006629	lipid metabolic process	biolink:OntologyClass	mondo			lipid metabolism	http://purl.obolibrary.org/obo/GO_0006629	The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids.	
UBERON:0005432	aortic sac	biolink:AnatomicalEntity	mondo			saccus aorticus	http://purl.obolibrary.org/obo/UBERON_0005432	The dilated structure that is lined by endothelial cells and located at the arterial pole of the heart just above (distal to) the truncus arteriosus in mammalian embryos; it is the primordial vascular channel from which the aortic arches (and eventually the dorsal aortae) arise; the aortic sac is homologous to the ventral aorta of gill-bearing vertebrates	
HGNC:3606	FBP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3606		
UBERON:0005419	pectoral appendage bud	biolink:AnatomicalEntity	mondo			pectoral fin buds|pectoral fin bud|forelimb - pectoral fin bud	http://purl.obolibrary.org/obo/UBERON_0005419	A limb bud that develops into a forelimb or pectoral fin.	
HGNC:3604	FBN2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3604		
GO:0006633	fatty acid biosynthetic process	biolink:OntologyClass	mondo			fatty acid synthesis|fatty acid formation|fatty acid biosynthesis|fatty acid anabolism	http://purl.obolibrary.org/obo/GO_0006633	The chemical reactions and pathways resulting in the formation of a fatty acid, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils. Fatty acids are predominantly straight-chain acids of 4 to 24 carbon atoms, which may be saturated or unsaturated; branched fatty acids and hydroxy fatty acids also occur, and very long chain acids of over 30 carbons are found in waxes.	
UBERON:0005418	hindlimb bud	biolink:AnatomicalEntity	mondo			hind limb bud|leg bud|posterior limb bud|limb bud - hindlimb	http://purl.obolibrary.org/obo/UBERON_0005418	A limb bud that develops into a hindlimb.	
HGNC:3603	FBN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3603		
GO:0006631	fatty acid metabolic process	biolink:OntologyClass	mondo			fatty acid metabolism	http://purl.obolibrary.org/obo/GO_0006631	The chemical reactions and pathways involving fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis.	
CHEBI:29067	carboxylic acid anion	biolink:ChemicalSubstance	mondo			carboxylic acid anions|a carboxylate|carboxylic anions	http://purl.obolibrary.org/obo/CHEBI_29067	The conjugate base formed when the carboxy group of a carboxylic acid is deprotonated.	
UBERON:0005420	pelvic appendage bud	biolink:AnatomicalEntity	mondo			hindlimb/pelvic fin bud|pelvic fin buds|pelvic fin bud	http://purl.obolibrary.org/obo/UBERON_0005420	A limb bud that develops into a hindlimb or pelvic fin.	
NCBITaxon:716546	leotiomyceta	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_716546		
NCBITaxon:716545	saccharomyceta	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_716545		
UBERON:0005428	vagal neural crest	biolink:AnatomicalEntity	mondo			enteric neural crest|VNC|post-otic neural crest	http://purl.obolibrary.org/obo/UBERON_0005428	Vagal neural crest is adjacent to the first seven somites gives rise to both ganglionic and ectomesenchymal derivatives[ZFA].	
UBERON:0005427	corneal primordium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005427	Portion of tissue that is part of the eye and gives rise to the mature, fully layered cornea.	
UBERON:0005426	lens vesicle	biolink:AnatomicalEntity	mondo			immature lens|presumptive lens|hollow lens vesicle|lens mass|solid lens vesicle	http://purl.obolibrary.org/obo/UBERON_0005426	Portion of tissue that gives rise to the lens.	
UBERON:0005425	presumptive neural retina	biolink:AnatomicalEntity	mondo			future NR|future retinal neural layer|presumptive retina|future neural layer|future neural epithelium|presumptive retinas|inner layer optic cup|optic cup inner layer|future neural retina	http://purl.obolibrary.org/obo/UBERON_0005425	Portion of tissue that is the inner layer of the optic cup and will become the neural retina.	
UBERON:0005424	presumptive retinal pigmented epithelium	biolink:AnatomicalEntity	mondo			presumptive pigmented epithelium|future pigmented layer|future RPE|future retinal pigmented epithelium|presumptive pigmented epithelia|optic cup outer layer|outer layer optic cup|future pigmented retinal epithelium|future PRE	http://purl.obolibrary.org/obo/UBERON_0005424	Portion of tissue that is the outer layer of the optic cup and will become the retinal pigmented epithelium.	
UBERON:0005423	developing anatomical structure	biolink:AnatomicalEntity	mondo			developmental tissue|developmental structure|developing structure	http://purl.obolibrary.org/obo/UBERON_0005423		
UBERON:0005422	pelvic appendage apical ectodermal ridge	biolink:AnatomicalEntity	mondo			apical ectodermal ridge pelvic fin bud|apical ectodermal ridge hind limb|leg AER|apical ectodermal ridge hindlimb|AER hindlimb|lower lmb bud apical ectodermal ridge	http://purl.obolibrary.org/obo/UBERON_0005422	An apical ectodermal ridge that is part of a pelvic appendage bud.	
UBERON:0005421	pectoral appendage apical ectodermal ridge	biolink:AnatomicalEntity	mondo			wing apical ectodermal ridge|AER forelimb|apical ectodermal ridge pectoral fin|wing AER|apical ectodermal ridge pectoral fin bud|upper limb bud apical ectodermal ridge|apical fold pectoral fin|apical ectodermal ridge forelimb|aer pectoral fin	http://purl.obolibrary.org/obo/UBERON_0005421	An apical ectodermal ridge that is part of a pectoral appendage bud.	
HGNC:3619	FCGR3A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3619		
HGNC:3618	FCGR2B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3618		
GO:0006601	creatine biosynthetic process	biolink:OntologyClass	mondo			creatine formation|creatine biosynthesis|creatine anabolism|creatine synthesis	http://purl.obolibrary.org/obo/GO_0006601	The chemical reactions and pathways resulting in the formation of creatine, N-[amino(imino)methyl]-N-methylglycine. Creatine is formed by a process beginning with amidino group transfer from L-arginine to glycine to form guanidinoacetate, followed by methyl group transfer from S-adenosyl-L-methionine to guanidinoacetate; it is then is phosphorylated to form a pool that stores high energy phosphate for the replenishment of ATP during periods of high, or fluctuating energy demand. In animals, most creatine is transported to and used in muscle.	
HGNC:3616	FCGR2A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3616		
UBERON:0005409	alimentary part of gastrointestinal system	biolink:AnatomicalEntity	mondo			GI tract|gastroenterological system|gastrointestinal (GI) tract|gastro-intestinal system|alimentary system|gastrointestinal tract|gastrointestinal system|alimentary tract	http://purl.obolibrary.org/obo/UBERON_0005409	The part of the digestive system that excludes the hepatobiliary system.	
UBERON:0005408	circumventricular organ	biolink:AnatomicalEntity	mondo			circumventricular organ|circumventricular organ of neuraxis|CVO	http://purl.obolibrary.org/obo/UBERON_0005408	Any of any of the secretory or sensory organs located in the brain region around or in relation to the ventricular system that are characterized by extensive vasculature and a lack of a normal blood brain barrier (BBB) and allow for the linkage between the central nervous system and peripheral blood flow.	
UBERON:0005407	sublingual ganglion	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005407	the small parasympathetic ganglion found anterior to the submandibular gland that provides postsynaptic fibers to the sublingual gland	
GO:0006600	creatine metabolic process	biolink:OntologyClass	mondo			creatine metabolism	http://purl.obolibrary.org/obo/GO_0006600	The chemical reactions and pathways involving creatine (N-(aminoiminomethyl)-N-methylglycine), a compound synthesized from the amino acids arginine, glycine, and methionine that occurs in muscle.	
PATO:0001154	elongated	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0001154	A quality inhering in a bearer by virtue of the bearer's length being notably higher than its width.	
HP:0001103	Abnormal macular morphology	biolink:PhenotypicFeature	mondo	UMLS:C0730362|SNOMEDCT_US:312999006	hposlim_core	Macula abnormality|Macular abnormality|Abnormality of the macula	http://purl.obolibrary.org/obo/HP_0001103	A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina.	
UBERON:0005417	forelimb bud	biolink:AnatomicalEntity	mondo			limb bud - forelimb|anterior limb bud|arm bud|upper limb bud|wing bud	http://purl.obolibrary.org/obo/UBERON_0005417	A limb bud that develops into a forelimb.	
HGNC:3622	FKTN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3622		
UBERON:0005412	optic fissure	biolink:AnatomicalEntity	mondo			choroid fissure - optic fissure|ventral choroidal fissure|choroid fissure|optic stalk fissure|optic fissures	http://purl.obolibrary.org/obo/UBERON_0005412	Groove that is in the developing ventral optic cup and through which blood vessels pass to the enclosed mesenchyme[ZFA]. a ventral fissure in the developing optic cup through which blood vessels pass to the enclosed mesenchyme[Free online medical dictionary].	
UBERON:0005411	bony otic capsule	biolink:AnatomicalEntity	mondo			otic capsule bone	http://purl.obolibrary.org/obo/UBERON_0005411	the cartilage or bony capsule surrounding the inner ear mechanism	
CHEBI:17087	ketone	biolink:ChemicalSubstance	mondo			ketones|a ketone|R-CO-R'|Keton|ketones|cetone|Ketone	http://purl.obolibrary.org/obo/CHEBI_17087	A compound in which a carbonyl group is bonded to two carbon atoms: R2C=O (neither R may be H).	
UBERON:0005410	cartilaginous otic capsule	biolink:AnatomicalEntity	mondo			auditory capsule|otic capsule cartilage element	http://purl.obolibrary.org/obo/UBERON_0005410	A otic capsule endochondral element that is composed primarily of cartilage tissue.	
HGNC:3625	FCN3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3625		
HP:0001114	Xanthelasma	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:6400008|MSH:D014973|UMLS:C4280602|UMLS:C0302314|UMLS:C4280601|SNOMEDCT_US:75594004|UMLS:C0155210|SNOMEDCT_US:63103006		Xanthelasma of eyelid|Xanthoma|Fatty deposits on eyelids|Xanthelasma of periocular region|Fatty deposits in skin around the eyes|Xanthoma of eyelid|Xanthoma of periocular region|Xanthelasma palpebrarum	http://purl.obolibrary.org/obo/HP_0001114	The presence of xanthomata in the skin of the eyelid.	
UBERON:0005406	perirenal fat	biolink:AnatomicalEntity	mondo			perirenal fat pad|periphrenic fascia|capsula adiposa renis|fatty capsule of kidney|perirenal fat capsule|perirenal fascia|perinephric fat|adipose capsule of kidney|perirenal fascia	http://purl.obolibrary.org/obo/UBERON_0005406	The adipose capsule of kidney (or perinephric fat or perirenal fat) is a structure between the renal fascia and renal capsule, and may be regarded as a part of the latter. A different structure, the pararenal fat, is the adipose tissue superficial to the renal fascia.	
HGNC:3631	FDPS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3631		
UBERON:0005401	cerebral hemisphere gray matter	biolink:AnatomicalEntity	mondo			cerebral gray matter|cerebral hemisphere grey matter|cerebral grey matter	http://purl.obolibrary.org/obo/UBERON_0005401	A gray matter that is part of a cerebral hemisphere.	
UBERON:0005400	telencephalon arachnoid mater	biolink:AnatomicalEntity	mondo			telencephalon arachnoid matter	http://purl.obolibrary.org/obo/UBERON_0005400	An arachnoid mater that is part of a telencephalon.	
MONDO:0021494	benign neoplasm of parotid gland	biolink:Disease	mondo	NCIT:C4770|ICD10:D11.0|SCTID:92279000|UMLS:C0496857		benign tumor of the parotid|benign parotid tumor|benign tumor of parotid|benign parotid neoplasm|benign parotid gland neoplasm|parotid gland benign neoplasm|benign neoplasm of the parotid gland|benign neoplasm of the parotid|benign parotid gland tumor|benign tumor of the parotid gland|benign tumor of parotid gland|benign neoplasm of parotid	http://purl.obolibrary.org/obo/MONDO_0021494	A benign neoplasm that involves the parotid gland.	SNOMEDCT:92279000|NCIT:C4770|UMLS:C0496857
MONDO:0021495	benign neoplasm of sublingual gland	biolink:Disease	mondo	SCTID:92413008|UMLS:C0347208|NCIT:C4601		sublingual gland benign neoplasm|benign tumor of sublingual gland|benign tumor of the sublingual gland|benign neoplasm of the sublingual gland|benign sublingual gland tumor|benign sublingual gland neoplasm	http://purl.obolibrary.org/obo/MONDO_0021495	A benign neoplasm that involves the sublingual gland.	SNOMEDCT:92413008|UMLS:C0347208|NCIT:C4601
MONDO:0021496	benign neoplasm of lip	biolink:Disease	mondo	SCTID:92185002|ICD10:D10.0|NCIT:C3591|UMLS:C0153932|ICD9:210.0		benign Lip neoplasm|lip neoplasm, benign|lip benign neoplasm|benign neoplasm of the Lip|benign tumor of the Lip|benign Lip tumor|benign tumor of Lip	http://purl.obolibrary.org/obo/MONDO_0021496	A benign neoplasm that involves the lip.	SNOMEDCT:92185002|NCIT:C3591|UMLS:C0153932
GO:0016192	vesicle-mediated transport	biolink:OntologyClass	mondo			vesicle transport|vesicular transport|protein sorting along secretory pathway|vesicle trafficking|nonselective vesicle transport	http://purl.obolibrary.org/obo/GO_0016192	A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane.	
MONDO:0021497	benign neoplasm of cerebrum	biolink:Disease	mondo	NCIT:C8548|SCTID:275269004|UMLS:C0686378		benign cerebral neoplasm|benign tumor of cerebral hemispheres|benign cerebral tumor|benign tumor of cerebrum|benign tumor of the cerebral hemispheres|benign tumor of the cerebrum|benign neoplasm of cerebral hemispheres|benign neoplasm of the cerebrum|benign neoplasm of the cerebral hemispheres|telencephalon benign neoplasm|benign cerebral hemispheric neoplasm|benign cerebral hemispheric tumor	http://purl.obolibrary.org/obo/MONDO_0021497	A benign neoplasm that involves the telencephalon.	UMLS:C0686378|NCIT:C8548|SNOMEDCT:275269004
MONDO:0021498	benign neoplasm of placenta	biolink:Disease	mondo	ICD9:219.8|NCIT:C8545|SCTID:92297008|UMLS:C0686274		benign placenta neoplasm|benign tumor of placenta|benign tumor of the placenta|placenta benign neoplasm|benign placenta tumor|benign neoplasm of the placenta|placental neoplasms, benign|benign placental tumor|benign placental neoplasm	http://purl.obolibrary.org/obo/MONDO_0021498	A benign neoplasm that involves the placenta.	UMLS:C0686274|NCIT:C8545|SNOMEDCT:92297008
MONDO:0021499	benign neoplasm of cerebellum	biolink:Disease	mondo	SCTID:92050000|NCIT:C4955		benign cerebellar neoplasms|cerebellar neoplasms, benign|benign tumor of cerebellum|benign tumor of the cerebellum|benign neoplasm of the cerebellum|benign cerebellar neoplasm|benign cerebellar tumor|cerebellum benign neoplasm|neoplasms, cerebellar, benign|neoplasms, benign, cerebellar	http://purl.obolibrary.org/obo/MONDO_0021499	A benign neoplasm that involves the cerebellum.	SNOMEDCT:92050000|NCIT:C4955
PATO:0001576	increased pressure	biolink:OntologyClass	mondo			high pressure	http://purl.obolibrary.org/obo/PATO_0001576	A pressure which is relatively high.	
MONDO:0021490	benign neoplasm of sebaceous gland	biolink:Disease	mondo	SCTID:92337009|UMLS:C0684358|NCIT:C8525		benign sebaceous neoplasm|benign sebaceous gland neoplasm|benign neoplasm of the sebaceous gland|benign tumor of the sebaceous gland|benign sebaceous gland tumor|benign tumor of sebaceous gland|benign sebaceous tumor|benign sebaceous skin tumor|sebaceous gland benign neoplasm|benign sebaceous skin neoplasm	http://purl.obolibrary.org/obo/MONDO_0021490	A benign neoplasm that involves the sebaceous gland.	NCIT:C8525|UMLS:C0684358|SNOMEDCT:92337009
MONDO:0021491	benign neoplasm of gum	biolink:Disease	mondo	SCTID:92126004|ICD9:210.4|UMLS:C0347201|NCIT:C4598		gingiva benign neoplasm|benign neoplasm of the gum|benign tumor of the gum|benign gum tumor|benign gum neoplasm|benign tumor of gum|benign neoplasm of the gingiva|benign neoplasm of gingiva|benign gingival tumor|benign tumor of the gingiva|benign tumor of gingiva|benign gingival neoplasm	http://purl.obolibrary.org/obo/MONDO_0021491	A benign neoplasm that involves the gingiva.	UMLS:C0347201|NCIT:C4598|SNOMEDCT:92126004
MONDO:0021492	benign neoplasm of major salivary gland	biolink:Disease	mondo	NCIT:C4771|SCTID:92205005|ICD9:210.2|UMLS:C0496858		benign tumor of Major salivary gland|benign tumor of the Major salivary gland|benign neoplasm of the Major salivary gland|major salivary gland benign neoplasm|benign Major salivary gland tumor|benign Major salivary gland neoplasm	http://purl.obolibrary.org/obo/MONDO_0021492	A benign neoplasm that involves the major salivary gland.	NCIT:C4771|UMLS:C0496858|SNOMEDCT:92205005
MONDO:0021493	benign neoplasm of minor salivary gland	biolink:Disease	mondo	SCTID:92220004|UMLS:C0345615|ICD9:210.4|NCIT:C4411		minor salivary gland benign neoplasm|benign tumor of minor salivary gland|benign tumor of the minor salivary gland|benign neoplasm of the minor salivary gland|benign minor salivary gland tumor|benign minor salivary gland neoplasm	http://purl.obolibrary.org/obo/MONDO_0021493	A benign neoplasm that involves the minor salivary gland.	SNOMEDCT:92220004|NCIT:C4411|UMLS:C0345615
MONDO:0033483	erythrocytosis, familial, 5	biolink:Disease	mondo	DOID:0080290|OMIM:617907|UMLS:CN873435		ECYT5|erythrocytosis, familial, 5; ECYT5|EPO familial polycythemia|familial erythrocytosis 5|familial polycythemia caused by mutation in EPO	http://purl.obolibrary.org/obo/MONDO_0033483	Any familial polycythemia in which the cause of the disease is a mutation in the EPO gene.	UMLS:CN873435|http://identifiers.org/omim/617907|DOID:0080290
MONDO:0033482	spinocerebellar ataxia 47	biolink:Disease	mondo	UMLS:CN244564|OMIM:617931|DOID:0111743		SCA47|spinocerebellar ataxia 47; SCA47	http://purl.obolibrary.org/obo/MONDO_0033482		DOID:0111743|http://identifiers.org/omim/617931|UMLS:CN244564
MONDO:0033481	spinocerebellar ataxia 46	biolink:Disease	mondo	UMLS:CN623018|DOID:0080288|Orphanet:589522|OMIM:617770	ordo_disease	spinocerebellar ataxia, 46, autosomal dominant, with sensory axonal neuropathy|spinocerebellar ataxia 46; SCA46|SCA46	http://purl.obolibrary.org/obo/MONDO_0033481		http://identifiers.org/omim/617770|ORPHA:589522|UMLS:CN623018|DOID:0080288
MONDO:0033480	spinocerebellar ataxia 45	biolink:Disease	mondo	UMLS:CN623017|DOID:0080287|OMIM:617769|Orphanet:589527	ordo_disease	spinocerebellar ataxia 45; SCA45|SCA45	http://purl.obolibrary.org/obo/MONDO_0033480		http://identifiers.org/omim/617769|ORPHA:589527|UMLS:CN623017|DOID:0080287
PATO:0001575	decreased pressure	biolink:OntologyClass	mondo			low pressure	http://purl.obolibrary.org/obo/PATO_0001575	A pressure which is relatively low.	
MONDO:0033486	leukodystrophy, hypomyelinating, 14	biolink:Disease	mondo	OMIM:617899|DOID:0080296|UMLS:CN845004		HLD14|leukodystrophy, hypomyelinating, 14; HLD14|hypomyelinating leukodystrophy 14	http://purl.obolibrary.org/obo/MONDO_0033486		UMLS:CN845004|DOID:0080296|http://identifiers.org/omim/617899
MONDO:0033485	short-rib thoracic dysplasia 19 with or without polydactyly	biolink:Disease	mondo	UMLS:CN842245|DOID:0080295|OMIM:617895		SRTD19|short-rib thoracic dysplasia 19 with or without polydactyly; SRTD19	http://purl.obolibrary.org/obo/MONDO_0033485		DOID:0080295|UMLS:CN842245|http://identifiers.org/omim/617895
MONDO:0021483	benign neoplasm of frontal sinus	biolink:Disease	mondo	NCIT:C4420|SCTID:92115005|UMLS:C0345674|ICD9:212.0		benign frontal sinus neoplasm|frontal sinus benign neoplasm|benign neoplasm of the frontal sinus|benign frontal sinus tumor|benign tumor of the frontal sinus|benign tumor of frontal sinus	http://purl.obolibrary.org/obo/MONDO_0021483	A benign neoplasm that involves the frontal sinus.	UMLS:C0345674|NCIT:C4420|SNOMEDCT:92115005
MONDO:0021484	benign neoplasm of maxillary sinus	biolink:Disease	mondo	SCTID:92211008|UMLS:C0345666|NCIT:C4414|ICD9:212.0		benign maxillary sinus tumor|benign tumor of maxillary antrum|benign tumor of the maxillary sinus|benign tumor of the maxillary antrum|benign maxillary antrum neoplasm|benign tumor of maxillary sinus|benign neoplasm of maxillary antrum|benign maxillary antrum tumor|benign neoplasm of the maxillary antrum|maxillary sinus benign neoplasm|benign maxillary sinus neoplasm|benign maxillofacial sinus neoplasm|benign neoplasm of the maxillofacial sinus|benign neoplasm of maxillofacial sinus|benign maxillofacial sinus tumor|benign tumor of the maxillofacial sinus|benign neoplasm of the maxillary sinus|benign tumor of maxillofacial sinus	http://purl.obolibrary.org/obo/MONDO_0021484	A benign neoplasm that involves the maxillary sinus.	UMLS:C0345666|NCIT:C4414|SNOMEDCT:92211008
MONDO:0021485	benign neoplasm of iris	biolink:Disease	mondo	NCIT:C4555|UMLS:C0346374|SCTID:189151003|ICD9:224.0		benign neoplasm of the iris|benign iris tumor|benign iris neoplasm|iris benign neoplasm|benign tumor of iris|benign tumor of the iris	http://purl.obolibrary.org/obo/MONDO_0021485	A benign neoplasm that involves the iris.	SNOMEDCT:189151003|NCIT:C4555|UMLS:C0346374
MONDO:0021486	benign neoplasm of ciliary body	biolink:Disease	mondo	SCTID:92060009|NCIT:C4779|ICD9:224.0|UMLS:C0496894		ciliary body benign neoplasm|benign ciliary body neoplasm|benign tumor of ciliary body|benign tumor of the ciliary body|benign neoplasm of the ciliary body|benign ciliary body tumor	http://purl.obolibrary.org/obo/MONDO_0021486	A benign neoplasm that involves the ciliary body.	UMLS:C0496894|SNOMEDCT:92060009|NCIT:C4779
MONDO:0021487	benign neoplasm of choroid	biolink:Disease	mondo	ICD9:224.6|SCTID:92059004|UMLS:C0154028|NCIT:C3625		optic choroid benign neoplasm|benign choroid neoplasm|benign neoplasm of the choroid|benign choroid tumor|benign tumor of the choroid|benign tumor of choroid	http://purl.obolibrary.org/obo/MONDO_0021487	A benign neoplasm that involves the optic choroid.	NCIT:C3625|SNOMEDCT:92059004|UMLS:C0154028
MONDO:0021488	benign neoplasm of lacrimal gland	biolink:Disease	mondo	NCIT:C3621|SCTID:92169007|ICD9:224.2|UMLS:C0154024		benign lacrimal gland tumor|benign neoplasm of the lacrimal gland|benign lacrimal gland neoplasm|lacrimal gland benign neoplasm|benign tumor of lacrimal gland|benign tumor of the lacrimal gland	http://purl.obolibrary.org/obo/MONDO_0021488	A benign neoplasm that involves the lacrimal gland.	NCIT:C3621|SNOMEDCT:92169007|UMLS:C0154024
MONDO:0021489	benign neoplasm of sweat gland	biolink:Disease	mondo	SCTID:92422009|UMLS:C0684354|NCIT:C4879		benign sweat gland neoplasm|benign neoplasm of the sweat gland|benign tumor of the sweat gland|sweat gland neoplasm, benign|benign sweat gland tumor|sweat gland benign neoplasm|benign tumor of sweat gland	http://purl.obolibrary.org/obo/MONDO_0021489	A benign neoplasm that involves the sweat gland.	NCIT:C4879|UMLS:C0684354|SNOMEDCT:92422009
MONDO:0021480	benign neoplasm of soft palate	biolink:Disease	mondo	UMLS:C0345557|NCIT:C4404|ICD9:210.4|SCTID:92386006		benign soft palate neoplasm|benign neoplasm of the soft palate|benign tumor of the soft palate|benign soft palate tumor|benign tumor of soft palate|soft palate benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021480	A benign neoplasm that involves the soft palate.	SNOMEDCT:92386006|NCIT:C4404|UMLS:C0345557
MONDO:0021481	benign neoplasm of submandibular gland	biolink:Disease	mondo	UMLS:C0685988|NCIT:C4891|SCTID:92415001		submandibular gland benign neoplasm|benign submandibular gland neoplasm|benign neoplasm of the submandibular gland|benign tumor of the submandibular gland|benign submandibular gland tumor|benign tumor of submandibular gland	http://purl.obolibrary.org/obo/MONDO_0021481	A benign neoplasm that involves the submandibular gland.	SNOMEDCT:92415001|UMLS:C0685988|NCIT:C4891
MONDO:0021482	benign neoplasm of middle ear	biolink:Disease	mondo	UMLS:C0347213|NCIT:C4602|SCTID:92218002|ICD9:212.0		middle ear benign neoplasm|benign tumor of middle Ear|benign tumor of the middle Ear|benign middle Ear tumor|benign neoplasm of the middle Ear|benign middle Ear neoplasm	http://purl.obolibrary.org/obo/MONDO_0021482	A benign neoplasm that involves the middle ear.	UMLS:C0347213|NCIT:C4602|SNOMEDCT:92218002
MONDO:0033493	fibromatosis, gingival, 5	biolink:Disease	mondo	OMIM:617626|DOID:0080280		fibromatosis, gingival, 5; GINGF5|GGF5|GINGF5|gingival fibromatosis 5|fibromatosis, gingival, hereditary, 5	http://purl.obolibrary.org/obo/MONDO_0033493		http://identifiers.org/omim/617626|DOID:0080280
MONDO:0033492	Coffin-Siris syndrome 6	biolink:Disease	mondo	DOID:0080297|OMIM:617808|UMLS:CN696018		COFFIN-SIRIS syndrome 6; CSS6|CSS6	http://purl.obolibrary.org/obo/MONDO_0033492		http://identifiers.org/omim/617808|UMLS:CN696018|DOID:0080297
MONDO:0021472	benign neoplasm of scrotum	biolink:Disease	mondo	UMLS:C0154011|ICD9:222.4|NCIT:C3615|ICD10:D29.4|SCTID:92336000		benign tumor of the scrotum|scrotum benign neoplasm|benign tumor of scrotum|benign scrotal neoplasm|benign scrotal tumor|benign neoplasm of the scrotum	http://purl.obolibrary.org/obo/MONDO_0021472	A benign neoplasm that involves the scrotum.	NCIT:C3615|SNOMEDCT:92336000|UMLS:C0154011
MONDO:0021473	benign neoplasm of epididymis	biolink:Disease	mondo	UMLS:C0154010|SCTID:92088003|ICD9:222.3|NCIT:C3614		epididymis benign neoplasm|benign epididymal neoplasm|benign tumor of epididymis|benign tumor of the epididymis|benign epididymal tumor|benign neoplasm of the epididymis	http://purl.obolibrary.org/obo/MONDO_0021473	A benign neoplasm that involves the epididymis.	NCIT:C3614|SNOMEDCT:92088003|UMLS:C0154010
MONDO:0021474	benign neoplasm of ear	biolink:Disease	mondo	NCIT:C8417|UMLS:C0347354|SCTID:255181009		aural neoplasms, benign|benign Ear neoplasm|benign neoplasm of the Ear|benign tumor of the Ear|benign Ear tumor|benign tumor of Ear|ear benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021474	A benign neoplasm that involves the ear.	NCIT:C8417|SNOMEDCT:255181009|UMLS:C0347354
MONDO:0021475	benign neoplasm of nasal cavity	biolink:Disease	mondo	ICD9:212.0|SCTID:92241005|UMLS:C0347215|NCIT:C4603		benign nasal cavity neoplasm|nasal cavity benign neoplasm|benign tumor of nasal cavity|benign tumor of the nasal cavity|benign neoplasm of the nasal cavity|benign nasal cavity tumor	http://purl.obolibrary.org/obo/MONDO_0021475	A benign neoplasm that involves the nasal cavity.	NCIT:C4603|SNOMEDCT:92241005|UMLS:C0347215
MONDO:0021476	benign neoplasm of tongue	biolink:Disease	mondo	SCTID:92443005|ICD10:D10.1|NCIT:C3592|ICD9:210.1|UMLS:C0153933		benign tongue neoplasm|benign tumor of tongue|benign tumor of the tongue|benign neoplasm of the tongue|benign tongue tumor|tongue neoplasm, benign|tongue benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021476	A benign neoplasm that involves the tongue.	UMLS:C0153933|NCIT:C3592|SNOMEDCT:92443005
MONDO:0021477	benign neoplasm of sphenoidal sinus	biolink:Disease	mondo	ICD9:212.0|NCIT:C4422|SCTID:92404006|UMLS:C0345678		benign tumor of sphenoid sinus|benign tumor of the sphenoid sinus|benign neoplasm of sphenoid sinus|benign neoplasm of the sphenoid sinus|benign sphenoid sinus tumor|benign sphenoidal sinus neoplasm|benign tumor of sphenoidal sinus|sphenoidal sinus benign neoplasm|benign tumor of the sphenoidal sinus|benign neoplasm of the sphenoidal sinus|benign sphenoidal sinus tumor|benign sphenoid sinus neoplasm	http://purl.obolibrary.org/obo/MONDO_0021477	A non-metastasizing neoplasm that arises from the sphenoid sinus.	NCIT:C4422|SNOMEDCT:92404006|UMLS:C0345678
MONDO:0021478	benign neoplasm of nasopharynx	biolink:Disease	mondo	ICD10:D10.6|NCIT:C3595|ICD9:210.7|SCTID:188800003|UMLS:C0153938		nasopharyngeal neoplasm, benign|benign nasopharyngeal neoplasm|nasopharynx benign neoplasm|benign neoplasm of the nasopharynx|benign nasopharyngeal tumor|benign tumor of the nasopharynx|benign tumor of nasopharynx	http://purl.obolibrary.org/obo/MONDO_0021478	A benign neoplasm that involves the nasopharynx.	UMLS:C0153938|NCIT:C3595|SNOMEDCT:188800003
MONDO:0021479	benign neoplasm of oropharynx	biolink:Disease	mondo	ICD9:210.6|UMLS:C0347229|SCTID:92259008|NCIT:C4604		oropharynx benign neoplasm|oropharyngeal neoplasm benign|benign oropharyngeal neoplasm|benign tumor of oropharynx|benign tumor of the oropharynx|benign neoplasm of the oropharynx|benign oropharyngeal tumor	http://purl.obolibrary.org/obo/MONDO_0021479	A benign neoplasm that involves the oropharynx.	UMLS:C0347229|NCIT:C4604|SNOMEDCT:92259008
MONDO:0008499	short stature-wormian bones-dextrocardia syndrome	biolink:Disease	mondo	GARD:0004856|UMLS:C1861448|OMIM:185120|Orphanet:2863|SCTID:763631006|ICD10:Q87.1|MESH:C566105	ordo_malformation_syndrome	Stratton-Parker syndrome|short stature wormian bones dextrocardia|Growth hormone deficiency with Wormian bones, Cardiac anomaly, and Brachycamptodactyly|STRATTON-PARKER syndrome|Stratton Parker syndrome	http://purl.obolibrary.org/obo/MONDO_0008499	Short stature-wormian bones-dextrocardia syndrome is a multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymetry, mild developmental delay, hemimegalencephaly and facial dysmorphism, such as hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia.	http://identifiers.org/omim/185120|SNOMEDCT:763631006|MESH:C566105|UMLS:C1861448|ORPHA:2863
MONDO:0008498	strabismus, susceptibility to	biolink:Disease	mondo	UMLS:C1861449|OMIM:185100	predisposition	strabismus, susceptibility to|strabismus, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0008498		http://identifiers.org/omim/185100|UMLS:C1861449
MONDO:0008497	Stormorken syndrome	biolink:Disease	mondo	GARD:0005188|UMLS:C1861451|ICD9:759.89|MESH:C566108|OMIM:185070|ICD10:D69.8|Orphanet:3204|SCTID:711407000|DOID:0060354	ordo_disease	Stormorken syndrome; STRMK|Thrombocytopathy-asplenia-miosis syndrome|Stormorken-Sjaastad-Langslet syndrome|york Platelet syndrome|Thrombocytopathy asplenia miosis|STRMK|thrombocytopathy, asplenia and miosis|Stormorken syndrome|Thrombocytopathy, asplenia, and miosis	http://purl.obolibrary.org/obo/MONDO_0008497	Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.	DOID:0060354|http://identifiers.org/omim/185070|ORPHA:3204|SNOMEDCT:711407000|MESH:C566108|UMLS:C1861451
MONDO:0008496	storm syndrome	biolink:Disease	mondo	GARD:0005035|OMIM:185069|MESH:C566109|UMLS:C1861452	gard_rare	storm syndrome|pleiotropic, autosomal dominant disorder affecting connective tissue	http://purl.obolibrary.org/obo/MONDO_0008496		http://identifiers.org/omim/185069|MESH:C566109|UMLS:C1861452
MONDO:0021470	benign neoplasm of pancreas	biolink:Disease	mondo	UMLS:C0347284|ICD10:D13.6|NCIT:C4612|SCTID:92264007		pancreatic tumor, benign|pancreas benign neoplasm|pancreatic neoplasm, benign|benign pancreatic neoplasm NOS|benign tumor of pancreas|benign tumor of the pancreas|benign pancreatic neoplasm|benign pancreas tumor|pancreas neoplasm, benign|benign neoplasm of the pancreas|pancreas tumor, benign|benign pancreas neoplasm|benign pancreatic tumor	http://purl.obolibrary.org/obo/MONDO_0021470	A benign neoplasm that involves the pancreas.	SNOMEDCT:92264007|UMLS:C0347284|NCIT:C4612
MONDO:0021471	benign neoplasm of endometrium	biolink:Disease	mondo	SCTID:92086004|NCIT:C4894|UMLS:C0686239		benign tumor of the endometrium|benign endometrium neoplasm|benign endometrium tumor|benign tumor of endometrium|benign endometrial neoplasm|endometrium benign neoplasm|benign endometrial tumor|benign neoplasm of the endometrium	http://purl.obolibrary.org/obo/MONDO_0021471	A benign neoplasm that involves the endometrium.	UMLS:C0686239|SNOMEDCT:92086004|NCIT:C4894
MONDO:0008495	platelet storage pool deficiency	biolink:Disease	mondo	ICD10:D69.1|OMIM:185050|MESH:D010981|GARD:0005034|DOID:2223|EFO:1001112|Orphanet:734|SCTID:234474009	gard_rare|ordo_disease	platelet dense granule deficiency|combined alpha-delta platelet storage pool deficiency|dense body defect|platelet storage pool diseases|storage pool platelet disease|alpha delta granule deficiency|alpha dense granule deficiency|platelet storage pool defect	http://purl.obolibrary.org/obo/MONDO_0008495	Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation ; easy bruising; recurrent anemia ; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic.	MESH:D010981|http://identifiers.org/omim/185050|ORPHA:734|SNOMEDCT:234474009|DOID:2223
MONDO:0008494	hereditary cryohydrocytosis with normal stomatin	biolink:Disease	mondo	Orphanet:398088|GARD:0010184|ICD10:D58.8|OMIM:185020|UMLS:C1861453|MESH:C535827	ordo_disease	pseudohyperkalemia Cardiff|cryohydrocytosis|stomatocytosis, cold-sensitive|ChC|cryohydrocytosis; ChC	http://purl.obolibrary.org/obo/MONDO_0008494	Hereditary cryohydrocytosis with normal stomatin is a rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.	MESH:C535827|http://identifiers.org/omim/185020|UMLS:C1861453|ORPHA:398088
MONDO:0008493	overhydrated hereditary stomatocytosis	biolink:Disease	mondo	OMIM:185000|DOID:0111562|Orphanet:3203|SCTID:722125003|UMLS:C1861455|ICD10:D58.8|GARD:0004183|MESH:C566111	ordo_disease	stomatocytosis I|OHST|OHS|stomatocytosis 1|Potassium sodium disorder of erythrocyte|Potassium-sodium disorder of erythrocyte|overhydrated hereditary stomatocytosis|OVERHYDRATED hereditary stomatocytosis; OHS|OVERHYDRATED hereditary stomatocytosis; OHST	http://purl.obolibrary.org/obo/MONDO_0008493	Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.	http://identifiers.org/omim/185000|ORPHA:3203|SNOMEDCT:722125003|MESH:C566111|UMLS:C1861455|DOID:0111562
MONDO:0008492	stiff skin syndrome	biolink:Disease	mondo	GARD:0005025|SCTID:765187004|DOID:0111561|OMIM:184900|UMLS:C1861456|NCIT:C118636|ICD10:L98.8|Orphanet:2833|MESH:C566112	gard_rare|ordo_disease	stiff skin syndrome|STIFF skin syndrome; SSKS|SSKS	http://purl.obolibrary.org/obo/MONDO_0008492	Stiff skin syndrome (SSS) is a rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures). The onset of signs and symptoms can range from presenting at birth through childhood. Other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), scoliosis, muscle weakness, slow growth, and short stature. Weakness or paralysis of the eye muscles have also been reported. Stiff skin syndrome is caused by mutations (changes) in the FBN1 gene and is inherited in an autosomal dominant manner. Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing. Treatment is based on the symptoms of each individual and may include physical therapy.	SNOMEDCT:765187004|NCIT:C118636|MESH:C566112|UMLS:C1861456|ORPHA:2833|http://identifiers.org/omim/184900|DOID:0111561
MONDO:0008491	stiff-person syndrome	biolink:Disease	mondo	EFO:0007498|MESH:D016750|OMIM:184850|ICD9:333.91|DOID:13366|UMLS:C0085292|MedDRA:10042044|ICD10:G25.82|GARD:0005023|ICD10:G25.8|SCTID:5217008|COHD:379008|Orphanet:3198|NCIT:C85170	ordo_disease	STIFF-PERSON syndrome; SPS|stiff man syndrome|Stiff person syndrome and related disorders|stiff-person syndrome|Stiff Person syndrome|Stiff man syndrome|Stiff-trunk syndrome|SPS|Stiff-man syndrome|progressive encephalomyelitis with rigidity|SMS|Morsch Woltman syndrome|Moersch-Woltman syndrome|Stiff-Man syndrome	http://purl.obolibrary.org/obo/MONDO_0008491	Stiff-man syndrome (SMS) is a rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis.	MEDDRA:10042044|ORPHA:3198|SNOMEDCT:5217008|MESH:D016750|UMLS:C0085292|http://identifiers.org/omim/184850|DOID:13366|NCIT:C85170
MONDO:0008490	otospondylomegaepiphyseal dysplasia, autosomal dominant	biolink:Disease	mondo	GARD:0005021|GARD:0004351|ICD10:Q77.7|SCTID:699313003|MESH:C535776|OMIM:184840|DOID:4258|Orphanet:166100|Orphanet:3450|ICD10:Q87.5|MESH:C537494|OMIM:277610	gard_rare|ordo_malformation_syndrome	Stickler syndrome nonocular type|Weissenbacher-Zweymuller syndrome|heterozygous otospondylomegaepiphyseal dysplasia|Pierre Robin syndrome with fetal chondrodysplasia|COL11A2 Stickler syndrome|Stickler syndrome, type III, formerly|Pierre Robin malformation|Piere-Robin syndrome|OSMEDA|WZS|Stickler syndrome, non-ocular type|Weissenbacher- Zweymuller syndrome|Stickler syndrome caused by mutation in COL11A2|Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type, formerly|Weissenbacher-Zweymuller syndrome; WZS|Stickler syndrome, type 3|OSMED, heterozygous|STICKLER syndrome, type III; STL3|Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type|STL3|otospondylomegaepiphyseal dysplasia, autosomal dominant|Pierre Robin sequence-fetal chondrodysplasia syndrome|Pierre Robin syndrome-fetal chondrodysplasia syndrome|Weissenbacher-Zweymüller syndrome|STICKLER syndrome, type III|otospondylomegaepiphyseal dysplasia, autosomal dominant; OSMEDA|Stickler syndrome, Nonocular type|heterozygous OSMED	http://purl.obolibrary.org/obo/MONDO_0008490	A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.	http://identifiers.org/omim/277610|ORPHA:166100|ORPHA:3450|UMLS:C1861481|http://identifiers.org/omim/184840|MESH:C537494|DOID:4258|MESH:C535776|SNOMEDCT:699313003
MONDO:0021469	benign neoplasm of anus	biolink:Disease	mondo	SCTID:91978004|NCIT:C4611|UMLS:C0347276		benign anal tumor|anus benign neoplasm|benign tumor of anus|benign tumor of the anus|benign neoplasm of the anus|benign anal neoplasm	http://purl.obolibrary.org/obo/MONDO_0021469	A benign neoplasm that involves the anus.	UMLS:C0347276|NCIT:C4611|SNOMEDCT:91978004
MONDO:0021461	benign neoplasm of hypopharynx	biolink:Disease	mondo	SCTID:92139000|ICD10:D10.7|NCIT:C3596|ICD9:210.8|UMLS:C0153939		benign tumor of hypopharynx|hypopharyngeal neoplasm, benign|hypopharynx benign neoplasm|benign hypopharyngeal neoplasm|benign hypopharyngeal tumor|benign neoplasm of the hypopharynx|benign tumor of the hypopharynx	http://purl.obolibrary.org/obo/MONDO_0021461	A benign neoplasm that involves the hypopharynx.	UMLS:C0153939|NCIT:C3596|SNOMEDCT:92139000
MONDO:0021462	benign neoplasm of rectum	biolink:Disease	mondo	SCTID:92318000|NCIT:C4774|UMLS:C0496867|ICD10:D12.8		rectal tumors, benign|benign rectal neoplasm|benign rectal tumors|benign rectal tumor|benign tumor of rectum|rectum benign neoplasm|benign tumor of the rectum|benign rectal neoplasms|benign neoplasm of the rectum|rectal neoplasms, benign	http://purl.obolibrary.org/obo/MONDO_0021462	A benign neoplasm that involves the rectum.	NCIT:C4774|UMLS:C0496867|SNOMEDCT:92318000
MONDO:0021463	benign neoplasm of parathyroid gland	biolink:Disease	mondo	UMLS:C0154041|DOID:60008|NCIT:C3630|ICD10:D35.1|ICD9:227.1|SCTID:92272009		parathyroid gland benign neoplasm|parathyroid tumor benign|benign neoplasm of the parathyroid gland|benign parathyroid neoplasm|benign parathyroid gland neoplasm|benign neoplasm of the parathyroid|benign parathyroid gland tumor|benign tumor of the parathyroid gland|benign tumor of parathyroid gland|benign neoplasm of parathyroid|benign parathyroid tumor|benign tumor of the parathyroid|benign tumor of parathyroid	http://purl.obolibrary.org/obo/MONDO_0021463	A benign neoplasm that involves the parathyroid gland.	NCIT:C3630|DOID:60008|SNOMEDCT:92272009|UMLS:C0154041
MONDO:0021464	benign neoplasm of cecum	biolink:Disease	mondo	UMLS:C0496859|SCTID:92040001|NCIT:C4772|ICD10:D12.0		benign cecum tumor|benign tumor of the cecum|benign tumor of cecum|benign cecum neoplasm|caecum benign neoplasm|benign neoplasm of the cecum	http://purl.obolibrary.org/obo/MONDO_0021464	A benign neoplasm that involves the caecum.	NCIT:C4772|UMLS:C0496859|SNOMEDCT:92040001
MONDO:0021465	benign neoplasm of appendix	biolink:Disease	mondo	SCTID:91981009|NCIT:C4773|ICD10:D12.1|UMLS:C0496860		benign tumor of appendix|benign tumor of the appendix|benign appendix tumor|benign neoplasm of the appendix|benign appendix neoplasm|vermiform appendix benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021465	A benign neoplasm that involves the vermiform appendix.	NCIT:C4773|UMLS:C0496860|SNOMEDCT:91981009
MONDO:0021466		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021466		
MONDO:0021467	benign neoplasm of renal pelvis	biolink:Disease	mondo	EFO:1000118|UMLS:C0154015|NCIT:C3616|SCTID:92319008|ICD9:223.1		renal pelvis benign neoplasm|benign kidney pelvis neoplasm|benign tumor of renal pelvis|benign tumor of the renal pelvis|benign neoplasm of the renal pelvis|benign renal pelvis tumor|benign renal pelvis neoplasm	http://purl.obolibrary.org/obo/MONDO_0021467	A benign neoplasm that involves the renal pelvis.	NCIT:C3616|SNOMEDCT:92319008|UMLS:C0154015
MONDO:0021468	benign neoplasm of adrenal medulla	biolink:Disease	mondo	SCTID:91968002|NCIT:C4895|UMLS:C0686512		benign neoplasm of the adrenal medulla|benign tumor of the adrenal medulla|benign adrenal medulla tumor|benign tumor of adrenal medulla|adrenal medulla benign neoplasm|benign adrenal medulla neoplasm	http://purl.obolibrary.org/obo/MONDO_0021468	A benign neoplasm that involves the adrenal medulla.	NCIT:C4895|SNOMEDCT:91968002|UMLS:C0686512
GO:0100002	negative regulation of protein kinase activity by protein phosphorylation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0100002	Any protein phosphorylation process that negatively regulates protein kinase activity.	
MONDO:0021460	benign neoplasm of salivary gland	biolink:Disease	mondo	NCIT:C4600|SCTID:255154009|UMLS:C0347206		benign salivary gland neoplasm|saliva-secreting gland benign neoplasm|benign tumor of salivary gland|benign tumor of the salivary gland|benign salivary gland tumor|benign neoplasm of the salivary gland|salivary gland neoplasm, benign	http://purl.obolibrary.org/obo/MONDO_0021460	A benign neoplasm that involves the saliva-secreting gland.	SNOMEDCT:255154009|UMLS:C0347206|NCIT:C4600
MONDO:0021458	benign neoplasm of penis	biolink:Disease	mondo	UMLS:C0149627|ICD9:222.1|ICD10:D29.0|SCTID:92286008|NCIT:C3489		benign penile neoplasm|benign penile tumor|penis benign neoplasm|benign neoplasm of the penis|benign tumor of the penis|benign tumor of penis	http://purl.obolibrary.org/obo/MONDO_0021458	A benign neoplasm that involves the penis.	UMLS:C0149627|NCIT:C3489|SNOMEDCT:92286008
MONDO:0021459	benign neoplasm of esophagus	biolink:Disease	mondo	SCTID:92091003|ICD9:211.0|NCIT:C3598|ICD10:D13.0|UMLS:C0153942		benign neoplasm of the esophagus|benign tumor of the esophagus|benign esophagus tumor|benign tumor of esophagus|esophagus benign neoplasm|benign esophageal neoplasm|benign esophageal tumor|benign esophagus neoplasm	http://purl.obolibrary.org/obo/MONDO_0021459	A benign neoplasm that involves the esophagus.	SNOMEDCT:92091003|NCIT:C3598|UMLS:C0153942
GO:0016175	superoxide-generating NAD(P)H oxidase activity	biolink:OntologyClass	mondo			cytochrome B-245	http://purl.obolibrary.org/obo/GO_0016175	Catalysis of the reaction: NAD(P)H + O2 = NAD(P)H + O2-.	
NCBITaxon:31953	Bifidobacteriaceae	organism taxon	mondo	PMID:19244447|GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_31953		
PATO:0001545	inflexible	biolink:OntologyClass	mondo			stiff|stiffness	http://purl.obolibrary.org/obo/PATO_0001545	A physical quality inhering in a bearer by virtue of the bearer's inability of being turned, bowed, or twisted without breaking.	
GO:0004175	endopeptidase activity	biolink:OntologyClass	mondo			proteinase|proteasome endopeptidase activity|elastase activity|endoprotease activity	http://purl.obolibrary.org/obo/GO_0004175	Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain.	
PATO:0001546	quality of a solid	biolink:OntologyClass	mondo			solidity	http://purl.obolibrary.org/obo/PATO_0001546	A physical quality inhering in a bearer by virtue of the bearer's exhibiting the physical characteristics of an entity characterized by particles arranged such that their shape and volume are relatively stable.	
PATO:0001543	flexibility	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0001543	A physical quality inhering in a bearer by virtue of the bearer's disposition to being turned, bowed, or twisted without breaking.	
NCBITaxon:43920	Chrysopsinae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_43920		
GO:0004177	aminopeptidase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0004177	Catalysis of the hydrolysis of a single N-terminal amino acid residue from a polypeptide chain.	
PATO:0001547	quality of a gas	biolink:OntologyClass	mondo			gaseous	http://purl.obolibrary.org/obo/PATO_0001547	A physical quality inhering in a bearer by virtue of the bearer's exhibiting the physical characteristics of an entity consisting of particles that have neither a defined volume nor defined shape.	
PATO:0001548	quality of a liquid	biolink:OntologyClass	mondo			liquidity	http://purl.obolibrary.org/obo/PATO_0001548	A physical quality inhering in an entity exhibiting the physical characteristics of an amorphous (non-crystalline) form of matter between a gas and a solid that has a definite volume, but no definite shape.	
GO:0090139	mitochondrial DNA packaging	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0090139	Any process in which mitochondrial DNA and associated proteins are formed into a compact, orderly structure.	
CHEBI:138675	gas molecular entity	biolink:ChemicalSubstance	mondo			gas molecular entities|gaseous molecular entity|gaseous molecular entities	http://purl.obolibrary.org/obo/CHEBI_138675	Any main group molecular entity that is gaseous at standard temperature and pressure (STP; 0degreeC and 100 kPa).	
NCBITaxon:43913	Chrysomyinae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_43913		
PATO:0001555	has number of	biolink:OntologyClass	mondo			number|mereological quality|has or lacks parts of type|number of|extra or missing physical or functional parts|cardinality	http://purl.obolibrary.org/obo/PATO_0001555	The number of parts of a particular type that the bearer entity has. This is a relational quality, and thus holds between two entities: the bearer of the quality, and the type of parts.	
GO:0016125	sterol metabolic process	biolink:OntologyClass	mondo			sterol metabolism	http://purl.obolibrary.org/obo/GO_0016125	The chemical reactions and pathways involving sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule.	
GO:0016126	sterol biosynthetic process	biolink:OntologyClass	mondo			sterol synthesis|sterol formation|sterol anabolism|sterol biosynthesis	http://purl.obolibrary.org/obo/GO_0016126	The chemical reactions and pathways resulting in the formation of sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule.	
GO:0016127	sterol catabolic process	biolink:OntologyClass	mondo			sterol breakdown|sterol catabolism|sterol degradation	http://purl.obolibrary.org/obo/GO_0016127	The chemical reactions and pathways resulting in the breakdown of sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule.	
GO:0004155	6,7-dihydropteridine reductase activity	biolink:OntologyClass	mondo			NAD(P)H2:6,7-dihydropteridine oxidoreductase activity|6,7-dihydropteridine:NAD(P)H oxidoreductase activity|NADPH-specific dihydropteridine reductase activity|dihydropteridine reductase activity|5,6,7,8-tetrahydropteridine:NAD(P)+ oxidoreductase activity|dihydropteridine reduction|dihydropteridine reductase (NADH) activity|5,6,7,8-tetrahydropteridine:NAD(P)H+ oxidoreductase activity|dihydropteridine (reduced nicotinamide adenine dinucleotide) reductase activity|DHPR activity|NAD(P)H(2):6,7-dihydropteridine oxidoreductase activity|NADPH-dihydropteridine reductase activity|NADH-dihydropteridine reductase activity	http://purl.obolibrary.org/obo/GO_0004155	Catalysis of the reaction: NADP+ + 5,6,7,8-tetrahydropteridine = NADPH + H+ + 6,7-dihydropteridine.	
PATO:0001566	distributed	biolink:OntologyClass	mondo			diffuse|scattered	http://purl.obolibrary.org/obo/PATO_0001566	A spatial pattern inhering in a bearer by virtue of the bearer's being spread out or scattered about or divided up.	
HGNC:31582	MIR204	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/31582		
PATO:0001563	increased mass	biolink:OntologyClass	mondo			high mass|large mass	http://purl.obolibrary.org/obo/PATO_0001563	A mass which is higher than normal or average.	
PATO:0001562	decreased mass	biolink:OntologyClass	mondo			low mass|small mass	http://purl.obolibrary.org/obo/PATO_0001562	A mass which is lower than normal or average.	
MONDO:0033479	spinocerebellar ataxia 44	biolink:Disease	mondo	DOID:0080286|UMLS:CN492437|OMIM:617691		SCA44|spinocerebellar ataxia 44; SCA44	http://purl.obolibrary.org/obo/MONDO_0033479		DOID:0080286|UMLS:CN492437|http://identifiers.org/omim/617691
HGNC:18591	NEK9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18591		
GO:0100051	obsolete positive regulation of meiotic nuclear division by transcription from RNA polymerase II promoter	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0100051	OBSOLETE. Any transcription from RNA polymerase II promoter process that positively regulates meiotic nuclear division.	
MONDO:0008439	spastic paraplegia-epilepsy-intellectual disability syndrome	biolink:Disease	mondo	ICD10:G11.4|MESH:C536869|Orphanet:2816|OMIM:182610|GARD:0004915|UMLS:C1866854	ordo_disease	SPEMR|spastic paraplegia epilepsy mental retardation|spastic paraplegia epilepsy intellectual disability|spastic paraplegia, epilepsy, and mental retardation; SPEMR|spemr|spastic paraplegia, epilepsy, and intellectual disability; SPEMR|spastic paraplegia, epilepsy, and intellectual disability|spastic paraplegia, epilepsy, and mental retardation	http://purl.obolibrary.org/obo/MONDO_0008439		UMLS:C1866854|ORPHA:2816|http://identifiers.org/omim/182610|MESH:C536869
MONDO:0021412	polyp of maxillary sinus	biolink:Disease	mondo	UMLS:C0264239|ICD9:471.8|NCIT:C3931|SCTID:29074008		maxillary antral polyp|maxillary sinus polyp|polyp of the maxillary sinus	http://purl.obolibrary.org/obo/MONDO_0021412	A polyp that involves the maxillary sinus.	UMLS:C0264239|NCIT:C3931|SNOMEDCT:29074008
MONDO:0008438	hereditary spastic paraplegia 4	biolink:Disease	mondo	Orphanet:100985|DOID:0110792|MESH:C536865|UMLS:C4510079|ICD10:G11.4|SCTID:723820001|GARD:0004925|OMIM:182601|NCIT:C129981|UMLS:C1866855	ordo_disease	familial spastic paraplegia, autosomal dominant, 2|spastic paraplegia 4, autosomal dominant|autosomal dominant spastic paraplegia type 4|familial spastic paraplegia autosomal dominant 2|SPG4|SPAST hereditary spastic paraplegia|autosomal dominant spastic paraplegia 4|FSP2|spastic paraplegia 4|hereditary spastic paraplegia type 4|hereditary spastic paraplegia caused by mutation in SPAST|spastic paraplegia 4, autosomal dominant; SPG4	http://purl.obolibrary.org/obo/MONDO_0008438	Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.	ORPHA:100985|NCIT:C129981|http://identifiers.org/omim/182601|SNOMEDCT:723820001|MESH:C536865|DOID:0110792|UMLS:C4510079|UMLS:C1866855
MONDO:0008437	hereditary spastic paraplegia 3A	biolink:Disease	mondo	ICD10:G11.4|NCIT:C142893|DOID:0110791|MESH:C536864|GARD:0005041|OMIM:182600|UMLS:C2931355|Orphanet:100984	ordo_disease	familial spastic paraplegia, autosomal dominant, 1|spastic paraplegia 3, autosomal dominant|Strumpell disease|autosomal dominant familial spastic paraplegia 1|Spg3|ATL1 hereditary spastic paraplegia|SPG3A|FSP1|hereditary spastic paraplegia caused by mutation in ATL1|strumpell disease|autosomal dominant spastic paraplegia type 3|Strümpell disease|autosomal dominant spastic paraplegia 3|spastic Paraplegia 3A|spastic paraplegia 3|spastic paraplegia 3, autosomal dominant; SPG3A|hereditary spastic paraplegia type 3A	http://purl.obolibrary.org/obo/MONDO_0008437	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATL1 gene.	NCIT:C142893|ORPHA:100984|http://identifiers.org/omim/182600|MESH:C536864|DOID:0110791|UMLS:C2931355
MONDO:0008436	Sneddon syndrome	biolink:Disease	mondo	MedDRA:10053841|SCTID:238776001|ICD10:I77.8|DOID:13096|OMIM:182410|EFO:1001186|MESH:D018860|Orphanet:820|UMLS:C0282492|GARD:0007664	ordo_disease|gard_rare	livedo reticularis-cerebrovascular accident syndrome|Ehrmann-Sneddon syndrome|livedo racemosa and cerebrovascular accidents|cerebro-vascular lesions and livedo reticularis|idiopathic livedo reticularis with systemic involvement|livedo racemosa-cerebrovascular accident syndrome|Sneddon's syndrome|Sneddon syndrome|livedo reticularis and cerebrovascular accidents	http://purl.obolibrary.org/obo/MONDO_0008436	Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.	MEDDRA:10053841|UMLS:C0282492|http://identifiers.org/omim/182410|DOID:13096|ORPHA:820|SNOMEDCT:238776001|MESH:D018860
MONDO:0008435	Somatomedin, embryonic	biolink:Disease	mondo	OMIM:182400		Somatomedin, embryonic	http://purl.obolibrary.org/obo/MONDO_0008435		http://identifiers.org/omim/182400
MONDO:0008434	Smith-Magenis syndrome	biolink:Disease	mondo	DOID:0060768|UMLS:C0795864|ICD10:Q93.5|MESH:D058496|SCTID:401315004|GARD:0008197|Orphanet:819|OMIM:182290|ICD9:758.33|NCIT:C75469	ordo_malformation_syndrome	SMITH-Magenis syndrome; SMS|SMS|chromosome 17P11.2 deletion syndrome|chromosome 17p11.2 deletion syndrome|Smith-Magenis chromosome region|Smith-Magenis syndrome|17p11.2 microdeletion syndrome|Smith-Magenis syndrome chromosome region	http://purl.obolibrary.org/obo/MONDO_0008434	Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.	MESH:D058496|SNOMEDCT:401315004|UMLS:C0795864|http://identifiers.org/omim/182290|NCIT:C75469|ORPHA:819|DOID:0060768
MONDO:0008433	small cell lung carcinoma	biolink:Disease	mondo	EFO:0000702|NCIT:C4917|ICD10:C34.9|SCTID:254632001|DOID:5409|KEGG:05222|ONCOTREE:SCLC|DOID:5411|MESH:D055752|UMLS:CN244903|UMLS:C0262584|OMIM:182280|ICD9:162.9|Orphanet:70573	ordo_disease	small cell lung cancer|oat cell carcinoma of the lung|oat cell carcinoma (morphologic abnormality)|SCLC1|small cell cancer of the lung|lung small cell neuroendocrine carcinoma|small cell neuroendocrine carcinoma of lung|small cell carcinoma of the lung|SCLC|oat cell carcinoma|oat cell lung carcinoma|small cell neuroendocrine carcinoma of the lung|lung small cell carcinoma|lung oat cell carcinoma|small cell carcinoma of lung|poorly differentiated endocrine neoplasm|oat cell carcinoma of lung	http://purl.obolibrary.org/obo/MONDO_0008433	Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure.	NCIT:C4917|UMLS:CN244903|DOID:5411|DOID:5409|MESH:D055752|http://identifiers.org/omim/182280|ORPHA:70573|SNOMEDCT:254632001|UMLS:C0262584
MONDO:0008432	ketone compounds, ability to smell	biolink:Disease	mondo	OMIM:182270		ketone compounds, ability to smell	http://purl.obolibrary.org/obo/MONDO_0008432		http://identifiers.org/omim/182270
MONDO:0008431	slipped femoral capital epiphyses	biolink:Disease	mondo	UMLS:C0149887|OMIM:182260|MESH:D060048		epiphysiolysis capitis femoris|slipped femoral capital epiphyses	http://purl.obolibrary.org/obo/MONDO_0008431	A developmental deformity in which the metaphysis of the femur moves proximally and anteriorly away from femur head (epiphysis) at the upper growth plate. It is most common in male adolescents and is associated with a greater risk of early osteoarthritis of the hip.	UMLS:C0149887|MESH:D060048|http://identifiers.org/omim/182260
NCBITaxon:28344	Porcine reproductive and respiratory syndrome virus	organism taxon	mondo	GC_ID:1		PRRSV|porcine reproductive and respiratory syndrome virus PRRSV|Porcine respiratory and reproductive syndrome virus|Porcine reproductive and respiratory syndrome virus (PRRSV)|porcine reproductive and respiratory syndrome virus, PRRSV	http://purl.obolibrary.org/obo/NCBITaxon_28344		
MONDO:0008430	skeletal dysplasia with delayed epiphyseal and carpal bone ossification	biolink:Disease	mondo	MESH:C566687|OMIM:182255|UMLS:C1866939		skeletal dysplasia with delayed epiphyseal and carpal bone ossification	http://purl.obolibrary.org/obo/MONDO_0008430		http://identifiers.org/omim/182255|MESH:C566687|UMLS:C1866939
UBERON:0005076	hindbrain-spinal cord boundary	biolink:AnatomicalEntity	mondo			hindbrain-spinal cord boundary region	http://purl.obolibrary.org/obo/UBERON_0005076	An anatomical boundary that adjacent_to a hindbrain and adjacent_to a spinal cord.	
UBERON:0005075	forebrain-midbrain boundary	biolink:AnatomicalEntity	mondo			forebrain-midbrain boundary region|diencephalic-mesencephalic boundary|forebrain midbrain boundary	http://purl.obolibrary.org/obo/UBERON_0005075	An anatomical boundary that adjacent_to a forebrain and adjacent_to a midbrain.	
MONDO:0021404	polyp of sphenoidal sinus	biolink:Disease	mondo	SCTID:90685008|NCIT:C3933|ICD9:471.8|UMLS:C0264255		sphenoid sinus polyp|polyp of sphenoid sinus|polyp of the sphenoid sinus|polyp of the sphenoidal sinus|sphenoidal sinus polyp	http://purl.obolibrary.org/obo/MONDO_0021404	A polyp that involves the sphenoidal sinus.	NCIT:C3933|UMLS:C0264255|SNOMEDCT:90685008
MONDO:0021408	polyp of frontal sinus	biolink:Disease	mondo	SCTID:195759002|NCIT:C4367|UMLS:C0339814|ICD9:471.8		frontal sinus polyp|polyp of the frontal sinus	http://purl.obolibrary.org/obo/MONDO_0021408	A polyp that involves the frontal sinus.	UMLS:C0339814|SNOMEDCT:195759002|NCIT:C4367
MONDO:0021400	polyp of colon	biolink:Disease	mondo	MESH:D003111|SCTID:68496003|NCIT:C2954|ICD10:K63.5		colonic polyp|colon polyp|polyp of the colon	http://purl.obolibrary.org/obo/MONDO_0021400	A polyp that involves the colon.	NCIT:C2954|MESH:D003111|SNOMEDCT:68496003
MONDO:0008449	spina bifida (disease)	biolink:Disease	mondo	ICD9:741|HP:0002414|EFO:0003105|MESH:D016135|SCTID:67531005|NCIT:C101214|COHD:4283381|DOID:0080016		spinal meningocele|NTD|neural tube defects, susceptibility to; NTD|rachischisis|spinal myelomeningocele|neural tube defects, susceptibility to|spina bifida|spinal myelocele	http://purl.obolibrary.org/obo/MONDO_0008449	A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae.	DOID:0080016|SNOMEDCT:67531005|NCIT:C101214|MESH:D016135
MONDO:0021402	polyp of external auditory canal	biolink:Disease	mondo	SCTID:95211004|NCIT:C4366|UMLS:C0339765		external Ear polyp|polyp of the external auditory canal|external acoustic meatus polyp|external auditory canal polyp	http://purl.obolibrary.org/obo/MONDO_0021402	A polyp that involves the external acoustic meatus.	UMLS:C0339765|NCIT:C4366|SNOMEDCT:95211004
MONDO:0008448	spheroid body myopathy	biolink:Disease	mondo	MESH:C000598645|UMLS:C1866785|DOID:0080091|SCTID:765092004|Orphanet:268129|OMIM:182920|GARD:0008711|ICD10:G71.8	gard_rare|ordo_disease	myopathy, spheroid body|autosomal dominant spheroid body myopathy	http://purl.obolibrary.org/obo/MONDO_0008448	Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations.	MESH:C000598645|ORPHA:268129|DOID:0080091|http://identifiers.org/omim/182920|SNOMEDCT:765092004|UMLS:C1866785
MONDO:0008447	hereditary spherocytosis type 1	biolink:Disease	mondo	DOID:0110916|UMLS:C2674218|OMIM:182900		hereditary spherocytosis 1|spherocytosis, type 1; SPH1|spherocytosis, type 1|SPH1|spherocytosis, hereditary, 1|Sph|hereditary spherocytosis caused by mutation in ANK1|HS1|ANK1 hereditary spherocytosis	http://purl.obolibrary.org/obo/MONDO_0008447	Any hereditary spherocytosis in which the cause of the disease is a mutation in the ANK1 gene.	UMLS:C2674218|http://identifiers.org/omim/182900|DOID:0110916
PATO:0001501	immature	biolink:OntologyClass	mondo			underdeveloped	http://purl.obolibrary.org/obo/PATO_0001501	A quality inhering in a bearer by virtue of the bearer's lacking complete growth, differentiation, or development.	
MONDO:0008446	sperm protamine P4	biolink:Disease	mondo	OMIM:182882		sperm protamine P4|sperm protamine P4; PRM4|PRM4	http://purl.obolibrary.org/obo/MONDO_0008446		http://identifiers.org/omim/182882
MONDO:0008445	delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome	biolink:Disease	mondo	ICD10:Q87.0|OMIM:182875|UMLS:C2931119|GARD:0003449|Orphanet:3038|SCTID:716199000	ordo_malformation_syndrome	speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe CREASE|Mehes syndrome|delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases	http://purl.obolibrary.org/obo/MONDO_0008445	This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases.	http://identifiers.org/omim/182875|UMLS:C2931119|SNOMEDCT:716199000|ORPHA:3038
MONDO:0008444	spastic paraplegia, optic atrophy, and dementia	biolink:Disease	mondo	MESH:C566679|UMLS:C1866849|OMIM:182830		spastic paraplegia, optic atrophy, and dementia	http://purl.obolibrary.org/obo/MONDO_0008444		MESH:C566679|http://identifiers.org/omim/182830|UMLS:C1866849
MONDO:0008443	spastic paraplegia-precocious puberty syndrome	biolink:Disease	mondo	Orphanet:2826|OMIM:182820|MESH:C536874|GARD:0004918|UMLS:C1866850	ordo_disease	familial spastic paraplegia, mental retardation, and precocious puberty|familial spastic paraplegia, intellectual disability, and precocious puberty|precocious puberty with spastic paraplegia|spastic paraplegia with precocious puberty	http://purl.obolibrary.org/obo/MONDO_0008443	Spastic paraplegia-precocious puberty syndrome is characterized by precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression.	ORPHA:2826|MESH:C536874|http://identifiers.org/omim/182820|UMLS:C1866850
MONDO:0008442	spastic paraplegia-neuropathy-poikiloderma syndrome	biolink:Disease	mondo	UMLS:C1866851|GARD:0004921|MESH:C536870|Orphanet:2821|OMIM:182815	ordo_disease	spastic paraplegia neuropathy poikiloderma|familial spastic paraplegia with neuropathy and poikiloderma|spastic paraplegia with neuropathy and poikiloderma|Antinolo-Nieto-Borrego syndrome	http://purl.obolibrary.org/obo/MONDO_0008442	Spastic paraplegia-neuropathy-poikiloderma syndrome is a complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992.	ORPHA:2821|http://identifiers.org/omim/182815|MESH:C536870|UMLS:C1866851
MONDO:0008441	spastic paraplegia with associated extrapyramidal signs	biolink:Disease	mondo	OMIM:182800|MESH:C566681|UMLS:C1866852		spastic paraplegia with associated extrapyramidal signs	http://purl.obolibrary.org/obo/MONDO_0008441		MESH:C566681|http://identifiers.org/omim/182800|UMLS:C1866852
MONDO:0008440	spastic paraplegia-nephritis-deafness syndrome	biolink:Disease	mondo	Orphanet:2820|GARD:0002342|UMLS:C2931667|OMIM:182690|MESH:C537937	ordo_clinical_syndrome|gard_rare	spastic paraplegia, bilateral sensorineural deafness, intellectual retardation, and progressive nephropathy|spastic paraplegia - nephritis - deafness|spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy|Fitzsimmons Walson Mellor syndrome|Fitzsimmons-Walson-Mellor syndrome|spastic paraplegia, sensorineural deafness, intellectual disability, and progressive nephropathy	http://purl.obolibrary.org/obo/MONDO_0008440	This syndrome is characterised by variable spastic paraplegia, bilateral sensorineural deafness, intellectual deficit and progressive nephropathy.	ORPHA:2820|MESH:C537937|http://identifiers.org/omim/182690|UMLS:C2931667
UBERON:0005068	neural rod	biolink:AnatomicalEntity	mondo			neural tube rod	http://purl.obolibrary.org/obo/UBERON_0005068	A solid rod of neurectoderm derived from the neural keel. The neural rod is roughly circular in cross section. Neural rod formation occurs during primary neurulation in teleosts[GO]. An intermediate stage in the development of the central nervous system present during the segmentation period; the neural rod is roughly cylindrical in shape, forms from the neural keel, and is not yet hollowed out into the neural tube[ZFIN].	
UBERON:0005066	right ventricular trabecular myocardium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005066	.	
UBERON:0005064	left ventricular trabecular myocardium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005064	.	
UBERON:0005062	neural fold	biolink:AnatomicalEntity	mondo			medullary fold	http://purl.obolibrary.org/obo/UBERON_0005062	One of the two elevated edges of the neural groove[GO,MP].	
UBERON:0005061	neural groove	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005061	The median dorsal longitudinal groove formed in the embryo by the neural plate after the appearance of the neural folds.	
HGNC:18571	XKRY	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18571		
GO:0100070	obsolete obsolete regulation of fatty acid biosynthetic process by transcription from RNA polymerase II promoter	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0100070	OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates fatty acid biosynthetic process.	
MONDO:0008419	scoliosis, isolated, susceptibility to, 1	biolink:Disease	mondo	OMIM:181800	predisposition	adolescent idiopathic scoliosis|scoliosis, isolated, susceptibility to, 1|scoliosis, isolated, susceptibility to, 1; IS1|adolescent isolated scoliosis|IS1	http://purl.obolibrary.org/obo/MONDO_0008419		http://identifiers.org/omim/181800
MONDO:0008418	scleroderma, familial progressive	biolink:Disease	mondo	UMLS:C1866983|OMIM:181750		systemic sclerosis, susceptibility to|Crest syndrome|scleroderma, familial progressive	http://purl.obolibrary.org/obo/MONDO_0008418		http://identifiers.org/omim/181750|UMLS:C1866983
MONDO:0008417	sclerocornea, autosomal dominant	biolink:Disease	mondo	MESH:C566692|OMIM:181700		sclerocornea, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008417		http://identifiers.org/omim/181700|MESH:C566692
MONDO:0008416	palmoplantar keratoderma-sclerodactyly syndrome	biolink:Disease	mondo	SCTID:239076000|OMIM:181600|Orphanet:384|ICD10:Q82.8|ICD9:757.39|MESH:C537526|GARD:0008517	gard_rare|ordo_disease	HURIEZ syndrome; HRZ|atrophic fibrosis of the skin of the limbs, hypoplasia of nails, and keratodermia of the palms and soles|Huriez syndrome|HRZ|SCLEROTYLOSIS|Tys|Sclerotylosis|palmoplantar hyperkeratosis-sclerodactyly syndrome|Scleroatrophic syndrome|Scleroatrophic and keratotic dermatosis of limbs	http://purl.obolibrary.org/obo/MONDO_0008416		SNOMEDCT:239076000|MESH:C537526|ORPHA:384|http://identifiers.org/omim/181600
MONDO:0008415	obsolete Scholte syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0008415		
MONDO:0008414	SCZD1	biolink:Disease	mondo	OMIM:181510|DOID:0070077		schizophrenia 1|SCZD1|schizophrenia 1; SCZD1|schizophrenia 1 with or without an affective disorder|schizophrenia susceptibility locus, chromosome 5-related	http://purl.obolibrary.org/obo/MONDO_0008414	A schizophrenia that has material basis in an autosomal dominant mutation of SCZD1 on chromosome 5q23-q35.	DOID:0070077|http://identifiers.org/omim/181510
MONDO:0008413	obsolete schizophrenia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0008413		
MONDO:0008412	intestinal schistosomiasis	biolink:Disease	mondo	OMIM:181460|EFO:1001419|ICD9:120.2|ICD9:120.1|ICD10:B65.2|ICD10:B65.1|SCTID:240796008|DOID:0050597		Schistosoma mansoni infectious disease|Schistosoma mansoni infection, susceptibility/resistance to|Katayama fever|Schistosoma mansoni, intensity of infection by|Schistosoma japonicum infection|schistosomiasis japonica	http://purl.obolibrary.org/obo/MONDO_0008412	An intestinal infection that is caused by Schistosoma japonicum.	SNOMEDCT:240796008|DOID:0050597|http://identifiers.org/omim/181460
MONDO:0008411	ulnar-mammary syndrome	biolink:Disease	mondo	ICD9:759.89|DOID:0060614|GARD:0000118|OMIM:181450|MESH:C536937|ICD10:Q71.8|Orphanet:3138|UMLS:C1866994|SCTID:700211007	ordo_malformation_syndrome|gard_rare	ums|ulnar-mammary syndrome; ums|Schinzel syndrome|ulnar-mammary syndrome|ulnar-mammary syndrome of Pallister|Pallister ulnar-mammary syndrome	http://purl.obolibrary.org/obo/MONDO_0008411	Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described.	UMLS:C1866994|ORPHA:3138|SNOMEDCT:700211007|http://identifiers.org/omim/181450|MESH:C536937|DOID:0060614
MONDO:0008410	Scheuermann disease	biolink:Disease	mondo	ICD10:M42.00|DOID:13300|OMIM:181440|NCIT:C34999|ICD9:732.0|GARD:0007610|Orphanet:3135|UMLS:C0036310|COHD:433565|ICD10:M42.0|SCTID:53406005|EFO:0008576	ordo_malformation_syndrome	Calve's disease|Scheuermann kyphosis|familial spinal osteochondrosis|spinal Osteochondrosis|Sherman's disease|Scheuermann's kyphosis|juvenile kyphosis|juvenile osteochondrosis of Scheurermann|juvenile osteochondrosis of spine|juvenile osteochondritis of the spine|Scheuermann's disease|Scheuermann disease|Scheuermann juvenile kyphosis|familial Scheuermann disease|familial Scheuermann juvenile kyphosis	http://purl.obolibrary.org/obo/MONDO_0008410	A disorder characterized by osteochondrosis of the vertebral epiphyses in childhood.	SNOMEDCT:53406005|ORPHA:3135|NCIT:C34999|DOID:13300|UMLS:C0036310|http://identifiers.org/omim/181440
NCBITaxon:207245	Fornicata	organism taxon	mondo	GC_ID:1		Diplomonadida group	http://purl.obolibrary.org/obo/NCBITaxon_207245		
UBERON:0005057	immune organ	biolink:AnatomicalEntity	mondo			immune system organ	http://purl.obolibrary.org/obo/UBERON_0005057	An organ that is part of a immune system [Automatically generated definition].	
NCBITaxon:31979	Clostridiaceae	organism taxon	mondo	GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_31979		
UBERON:0005056	external female genitalia	biolink:AnatomicalEntity	mondo			external genitalia of female reproductive system|female external genitalia|external female genital organ|organa genitalia feminina externa	http://purl.obolibrary.org/obo/UBERON_0005056	An external genitalia that is part of a female reproductive system [Automatically generated definition].	
UBERON:0005055	zone of long bone	biolink:AnatomicalEntity	mondo			long bone zone	http://purl.obolibrary.org/obo/UBERON_0005055	An organ part that is part of a long bone [Automatically generated definition].	
UBERON:0005051	mediastinum testis	biolink:AnatomicalEntity	mondo			body of highmore|hilum of testicle|testis mediastinum|mediastinum of testis	http://purl.obolibrary.org/obo/UBERON_0005051	The mediastinum testis is a network of fibrous connective tissue that extends from the upper to near the lower extremity of the testis, and is wider above than below. From its front and sides numerous imperfect septa (trabeculæ) are given off, which radiate toward the surface of the organ, and are attached to the tunica albuginea. They divide the interior of the organ into a number of incomplete spaces, called lobules. These are somewhat cone-shaped, being broad at their bases at the surface of the gland, and becoming narrower as they converge to the mediastinum. The mediastinum supports the rete testis and blood vessels of the testis in their passage to and from the substance of the gland[WP]	
HGNC:31555	MIR184	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/31555		
HGNC:18576	CCNO	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18576		
UBERON:0005058	hemolymphoid system gland	biolink:AnatomicalEntity	mondo			hemopoietic or lymphoid gland|haemolymphoid system gland|hemopoietic or lymphoid organ	http://purl.obolibrary.org/obo/UBERON_0005058	A gland that is part of a hemolymphoid system [Automatically generated definition].	
MONDO:0008429	singleton-Merten dysplasia	biolink:Disease	mondo	ICD10:Q78.8|MESH:C537343|DC:0000703|UMLS:C0432254|ICD9:733.29|OMIMPS:182250|GARD:0000122|SCTID:254114000|Orphanet:85191	ordo_malformation_syndrome|gard_rare	widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness|Merten-singleton syndrome|singleton-Merten syndrome|syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition|singleton Merten syndrome|SGMRT1|SM syndrome	http://purl.obolibrary.org/obo/MONDO_0008429	Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).	SNOMEDCT:254114000|MESH:C537343|ORPHA:85191|UMLS:C0432254
PATO-PROPERTY:has_cross_section	has_cross_section	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/pato#has_cross_section	s3 has_cross_section s3 if and only if : there exists some 2d plane that intersects the bearer of s3, and the impression of s3 upon that plane has shape quality s2.	
MONDO:0008428	septooptic dysplasia	biolink:Disease	mondo	MedDRA:10067159|DOID:0060857|OMIM:182230|SCTID:7611002|MESH:D025962|NCIT:C85063|UMLS:C0338503|ICD10:Q04.8|Orphanet:3157|GARD:0007627	ordo_malformation_syndrome	SOD|pituitary hormone deficiency, combined, 5|De Morsier syndrome|hypopituitarism and septooptic 'dysplasia'|septo-optic dysplasia|septo-optic dysplasia sequence|septo-optic dysplasia with growth hormone deficiency|septo-optic dysplasia spectrum|septooptic dysplasia|Growth hormone deficiency with pituitary anomalies	http://purl.obolibrary.org/obo/MONDO_0008428	Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.	DOID:0060857|MEDDRA:10067159|ORPHA:3157|http://identifiers.org/omim/182230|SNOMEDCT:7611002|MESH:D025962|UMLS:C0338503|NCIT:C85063
MONDO:0008427	sister chromatid exchange, frequency of	biolink:Disease	mondo	OMIM:182220		sister chromatid exchange, frequency of|SCE, frequency of	http://purl.obolibrary.org/obo/MONDO_0008427		http://identifiers.org/omim/182220
MONDO:0008426	Shprintzen-Goldberg syndrome	biolink:Disease	mondo	GARD:0004861|NCIT:C124840|SCTID:719069008|ICD10:Q87.8|OMIM:182212|UMLS:C1321551|Orphanet:2462	clingen|ordo_malformation_syndrome	Marfanoid disorder with craniosynostosis type 1|Shprintzen-Goldberg craniosynostosis syndrome|SGS|Marfanoid disorder with craniosynostosis, type 1|Marfanoid craniosynostosis syndrome|Shprintzen-Goldberg craniosynostosis syndrome; SGS|SGS|Shprintzen-Goldberg marfanoid syndrome|Marfanoid-craniosynostosis syndrome|craniosynostosis with arachnodactyly and abdominal hernias	http://purl.obolibrary.org/obo/MONDO_0008426	Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.	NCIT:C124840|UMLS:C1321551|ORPHA:2462|MESH:C537328|http://identifiers.org/omim/182212|SNOMEDCT:719069008
MONDO:0008425	omphalocele syndrome, Shprintzen-Goldberg type	biolink:Disease	mondo	UMLS:C1866958|SCTID:716230005|MESH:C537329|GARD:0009850|ICD10:Q79.2|OMIM:182210|Orphanet:3164	ordo_malformation_syndrome	omphalocele with hypoplasia of pharynx and larynx, learning disability, dysmorphic facies, and scoliosis|omphalocele, laryngeal and pharyngeal hypoplasia, learning disabilities, dysmorphic facies and spinal anomalies|laryngeal and pharyngeal hypoplasia with omphalocele|Shprintzen-Goldberg omphalocele syndrome|pharynx and larynx hypoplasia with omphalocele|Shprintzen omphalocele syndrome	http://purl.obolibrary.org/obo/MONDO_0008425	Shprintzen-Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities.	UMLS:C1866958|ORPHA:3164|MESH:C537329|http://identifiers.org/omim/182210|SNOMEDCT:716230005
MONDO:0008424	sella turcica, bridged	biolink:Disease	mondo	OMIM:182200|MESH:C566689		sella turcica, bridged	http://purl.obolibrary.org/obo/MONDO_0008424		http://identifiers.org/omim/182200|MESH:C566689
MONDO:0008423	sinus node disease and myopia	biolink:Disease	mondo	GARD:0004880|MESH:C566690|UMLS:C1866960|OMIM:182190	gard_rare	sinus node disease and myopia|Sss-myopia syndrome|sick sinus syndrome and myopia	http://purl.obolibrary.org/obo/MONDO_0008423		http://identifiers.org/omim/182190|MESH:C566690|UMLS:C1866960
MONDO:0008422	autosomal dominant sideroblastic anemia	biolink:Disease	mondo	OMIM:182170|MESH:C567160|DOID:0060335|UMLS:C2674249		anemia, sideroblastic, 4; SIDBA4|SIDBA4|sideroblastic anemia, autosomal dominant|anemia, sideroblastic, autosomal dominant|anemia, sideroblastic, 4	http://purl.obolibrary.org/obo/MONDO_0008422	Autosomal dominant form of sideroblastic anemia.	MESH:C567160|http://identifiers.org/omim/182170|UMLS:C2674249|DOID:0060335
MONDO:0008421	flat face-microstomia-ear anomaly syndrome	biolink:Disease	mondo	UMLS:C1866962|MESH:C537339|Orphanet:1968|ICD10:Q87.0|GARD:0004873|OMIM:182150	ordo_malformation_syndrome	Simosa-Penchaszadeh-Bustos syndrome|blepharophimosis-telecanthus-microstomia syndrome|SIMOSA craniofacial syndrome|Simosa cranio facial syndrome	http://purl.obolibrary.org/obo/MONDO_0008421	Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994.	MESH:C537339|http://identifiers.org/omim/182150|ORPHA:1968|UMLS:C1866962
MONDO:0008420	seborrheic keratosis	biolink:Disease	mondo	UMLS:C0022603|NCIT:C9006|Wikipedia:Seborrheic_keratosis|ICD9:702.1|GARD:0003108|ICD10:L82|MESH:D017492|OMIM:182000|DOID:6498|EFO:0005584|ICD10:L82.1		keratosis, seborrheic|keratosis Seborrheica|basal cell papilloma	http://purl.obolibrary.org/obo/MONDO_0008420	A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions.	DOID:6498|NCIT:C9006|http://identifiers.org/omim/182000|UMLS:C0022603|MESH:D017492
NCBITaxon:28314	Aleutian mink disease virus	organism taxon	mondo	GC_ID:1		Aleutian mink disease parvovirus|Aleutian disease virus|AMDV	http://purl.obolibrary.org/obo/NCBITaxon_28314		
UBERON:0005046	mucosa of hard palate	biolink:AnatomicalEntity	mondo			hard palate mucosa|organ mucosa of hard palate|mucous membrane of hard palate|hard palate mucous membrane	http://purl.obolibrary.org/obo/UBERON_0005046	A mucosa that is part of a hard palate [Automatically generated definition].	
NCBITaxon:31969	Mollicutes	organism taxon	mondo	PMID:2592342|PMID:11321122|PMID:17978244|GC_ID:11|PMID:15143038|PMID:23606477|PMID:8123554|PMID:8863414|PMID:8863413		Mycoplasmas and walled relatives|mycoplasmas|Paramycetes	http://purl.obolibrary.org/obo/NCBITaxon_31969		
UBERON:0005045	mucosa of ethmoidal sinus	biolink:AnatomicalEntity	mondo			ethmoid sinus mucosa|ethmoid sinus organ mucosa|ethmoid sinus mucosa of organ|organ mucosa of ethmoid sinus|mucous membrane of ethmoid sinus|mucosa of ethmoid sinus|mucosa of organ of ethmoid sinus|ethmoid sinus mucous membrane|ethmoidal sinus mucosa	http://purl.obolibrary.org/obo/UBERON_0005045	A mucosa that is part of a ethmoid sinus [Automatically generated definition].	
UBERON:0005044	mucosa of pharyngotympanic tube	biolink:AnatomicalEntity	mondo			mucuous membrane of pharyngotympanic tube|mucous membrane of pharyngotympanic tube|pharyngotympanic tube mucosa of organ|mucosa of organ of internal auditory tube|organ mucosa of pharyngotympanic tube|pharyngotympanic tube mucosa|tunica mucosa (tuba auditoria)|pharyngotympanic tube organ mucosa|mucosa of internal auditory tube|mucosa of organ of pharyngotympanic tube|mucous membrane of internal auditory tube|organ mucosa of internal auditory tube|tunica mucosa (tuba auditiva)|pharyngotympanic tube mucous membrane|mucous membrane of auditory tube|auditory tube mucosa of organ|organ mucosa of auditory tube|mucosa of auditory tube|internal auditory tube mucosa of organ|internal auditory tube mucosa|internal auditory tube organ mucosa|mucuous membrane of eustachian tube|auditory tube mucous membrane|mucosa of organ of auditory tube|auditory tube mucosa|auditory tube organ mucosa|internal auditory tube mucous membrane	http://purl.obolibrary.org/obo/UBERON_0005044	A mucosa that is part of a pharyngotympanic tube [Automatically generated definition].	
UBERON:0005043	mucosa of nasolacrimal duct	biolink:AnatomicalEntity	mondo			nasolacrimal duct mucosa|nasolacrimal duct organ mucosa|nasolacrimal duct mucous membrane|mucosa of organ of nasolacrimal duct|nasolacrimal ductal mucosa|mucous membrane of nasolacrimal duct|nasolacrimal duct mucosa of organ|organ mucosa of nasolacrimal duct	http://purl.obolibrary.org/obo/UBERON_0005043	A mucosa that is part of a nasolacrimal duct [Automatically generated definition].	
UBERON:0005042	inner epithelial layer of tympanic membrane	biolink:AnatomicalEntity	mondo			tympanic membrane mucosa|mucous stratum of tympanic membrane|mucosa of tympanic membrane|mucous layer of tympanic membrane|tympanic membrane external middle ear cavity epithelial component	http://purl.obolibrary.org/obo/UBERON_0005042	A portion of the tympanic cavity epithelium which makes up the outer (cuticular) layer of the tympanic membrane	
UBERON:0005041	mucosa of respiratory bronchiole	biolink:AnatomicalEntity	mondo			mucous membrane of respiratory bronchiole|organ mucosa of respiratory bronchiole|respiratory bronchiole mucosa of organ|organ mucosa of bronchiolus respiratorius|bronchiolus respiratorius mucosa of organ|mucous membrane of bronchiolus respiratorius|mucosa of bronchiolus respiratorius|bronchiolus respiratorius mucosa|respiratory bronchiole mucous membrane|bronchiolus respiratorius mucous membrane|respiratory bronchiole mucosa|mucosa of organ of bronchiolus respiratorius|bronchiolus respiratorius organ mucosa|respiratory bronchiole organ mucosa|mucosa of organ of respiratory bronchiole	http://purl.obolibrary.org/obo/UBERON_0005041	A mucosa that is part of a respiratory bronchiole [Automatically generated definition].	
UBERON:0005040	mucosa of terminal bronchiole	biolink:AnatomicalEntity	mondo			mucosa of bronchiolus terminalis|organ mucosa of bronchiolus terminalis|mucous membrane of bronchiolus terminalis|mucous membrane of terminal bronchiole|terminal bronchiole mucosa of organ|organ mucosa of terminal bronchiole|bronchiolus terminalis mucosa of organ|bronchiolus terminalis mucosa|bronchiolus terminalis organ mucosa|terminal bronchiole mucosa|terminal bronchiole organ mucosa|terminal bronchiole mucous membrane|mucosa of organ of terminal bronchiole|bronchiolus terminalis mucous membrane|mucosa of organ of bronchiolus terminalis	http://purl.obolibrary.org/obo/UBERON_0005040	A mucosa that is part of a terminal bronchiole [Automatically generated definition].	
UBERON:0005049	mucosa of infundibulum of uterine tube	biolink:AnatomicalEntity	mondo			organ mucosa of uterine tube infundibulum|mucous membrane of uterine tube infundibulum|uterine tube infundibulum mucosa of organ|mucosa of uterine tube infundibulum|uterine tube infundibulum mucous membrane|mucosa of organ of uterine tube infundibulum|mucosa of infundibulum of fallopian tube|uterine tube infundibulum mucosa|uterine tube infundibulum organ mucosa|mucosa of infundibulum of oviduct	http://purl.obolibrary.org/obo/UBERON_0005049	A mucosa that is part of a uterine tube infundibulum [Automatically generated definition].	
UBERON:0005048	mucosa of uterine tube	biolink:AnatomicalEntity	mondo			tunica mucosa tubae uterinae|fallopian tube mucosa|fallopian tube organ mucosa|uterine tube mucosa of organ|mucosa of fallopian tube|mucous membrane of fallopian tube|organ mucosa of fallopian tube|uterine tube mucosa|uterine tubal mucosa|uterine tube organ mucosa|uterine tube mucous membrane|fallopian tube mucosa of organ|mucosa of organ of uterine tube|fallopian tube mucous membrane|organ mucosa of uterine tube|mucous membrane of uterine tube|mucosa of organ of fallopian tube|mucosa of oviduct	http://purl.obolibrary.org/obo/UBERON_0005048	A mucosa that is part of a fallopian tube [Automatically generated definition].	
UBERON:0005047	mucosa of vocal fold	biolink:AnatomicalEntity	mondo			true vocal cord mucosa|vocal fold mucosa|true vocal cord organ mucosa|mucosa of vocal cord|mucous membrane of vocal cord|organ mucosa of vocal cord|organ mucosa of true vocal cord|true vocal cord mucosa of organ|mucous membrane of true vocal cord|mucosa of true vocal cord|vocal cord mucosa of organ|true vocal cord mucous membrane|mucosa of organ of true vocal cord|vocal cord mucous membrane|vocal cord mucosa|mucosa of glottis|mucosa of organ of vocal cord|vocal cord organ mucosa	http://purl.obolibrary.org/obo/UBERON_0005047	A mucosa that is part of a vocal cord [Automatically generated definition].	
MONDO:0021450	benign neoplasm of heart	biolink:Disease	mondo	SCTID:92132009|ICD10:D15.1|ICD9:212.7|UMLS:C0153957|NCIT:C3605		benign Cardiac neoplasm|benign Cardiac tumor|benign heart neoplasm|benign neoplasm of the heart|heart benign neoplasm|benign heart tumor|benign tumor of the heart|benign tumor of heart	http://purl.obolibrary.org/obo/MONDO_0021450	A benign neoplasm that involves the heart.	NCIT:C3605|SNOMEDCT:92132009|UMLS:C0153957
MONDO:0021451	benign neoplasm of brain	biolink:Disease	mondo	EFO:1000107|SCTID:92030004|NCIT:C4781|ICD9:225.0		benign brain neoplasm|benign neoplasm of the brain|brain neoplasms, benign|benign tumor of the brain|benign brain tumor|benign tumor of brain|brain benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021451	A benign neoplasm that involves the brain.	SNOMEDCT:92030004|NCIT:C4781
HGNC:18550	IER3IP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18550		
MONDO:0021452	benign neoplasm of cornea	biolink:Disease	mondo	UMLS:C0154026|NCIT:C3623|ICD9:224.4|SCTID:92070006		benign tumor of cornea|benign tumor of the cornea|benign neoplasm of the cornea|benign cornea tumor|benign corneal tumor|benign corneal neoplasm|benign cornea neoplasm|cornea benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021452	A benign neoplasm that involves the cornea.	NCIT:C3623|SNOMEDCT:92070006|UMLS:C0154026
MONDO:0021453	benign neoplasm of retina	biolink:Disease	mondo	NCIT:C3624|UMLS:C0154027|SCTID:92321003|ICD9:224.5		benign neoplasm of the retina|benign retina tumor|benign retinal tumor|benign retinal neoplasm|benign retina neoplasm|retina benign neoplasm|benign tumor of retina|benign tumor of the retina	http://purl.obolibrary.org/obo/MONDO_0021453	A benign neoplasm that involves the retina.	NCIT:C3624|UMLS:C0154027|SNOMEDCT:92321003
MONDO:0021454	benign neoplasm of eye	biolink:Disease	mondo	ICD9:224.0|SCTID:92097004|ICD9:224.9|UMLS:C0496897|ICD9:224.8|NCIT:C4780		eye benign neoplasm|benign neoplasm of the eye|benign ocular tumor|benign tumor of the eye|benign eye tumor|benign tumor of eye|benign eye neoplasm|benign ocular neoplasm	http://purl.obolibrary.org/obo/MONDO_0021454	A benign neoplasm that involves the eye.	SNOMEDCT:92097004|NCIT:C4780|UMLS:C0496897
MONDO:0021455	benign neoplasm of neck	biolink:Disease	mondo	SCTID:92246000|NCIT:C4884|ICD9:229.8|UMLS:C0684815		benign neck neoplasm|benign tumor of neck|neck benign neoplasm|benign tumor of the neck|benign neoplasm of the neck|benign neck tumor	http://purl.obolibrary.org/obo/MONDO_0021455	A benign neoplasm that involves the neck.	UMLS:C0684815|NCIT:C4884|SNOMEDCT:92246000
MONDO:0021456	benign neoplasm of sternum	biolink:Disease	mondo	UMLS:C0347312|NCIT:C8416|SCTID:92410006		benign sternal tumor|benign neoplasm of the sternum|benign tumor of the sternum|benign tumor of sternum|benign sternal neoplasm|sternum benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021456	A benign neoplasm that involves the sternum.	SNOMEDCT:92410006|UMLS:C0347312|NCIT:C8416
MONDO:0021457	benign neoplasm of pleura	biolink:Disease	mondo	NCIT:C3603|SCTID:92298003|ICD9:212.4|UMLS:C0153955		benign tumor of pleura|benign tumor of the pleura|benign pleural tumor|benign neoplasm of the pleura|benign pleural neoplasm|pleura benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021457	A benign neoplasm that involves the pleura.	UMLS:C0153955|NCIT:C3603|SNOMEDCT:92298003
MONDO:0008479	spondylometaphyseal dysplasia, 'corner fracture' type	biolink:Disease	mondo	MESH:C535793|UMLS:C0432221|OMIM:184255|ICD10:Q77.8|GARD:0004991|Orphanet:93315|SCTID:254078005	ordo_disease|gard_rare	spondylometaphyseal dysplasia corner fracture type|SMDCF|Sutcliffe SmD|spondylometaphyseal dysplasia, Sutcliffe type|spondylometaphyseal dysplasia, corner fracture type; SMDCF|Sutcliffe type of spondylometaphyseal dysplasia|spondylometaphyseal dysplasia, corner fracture type|spondylometaphyseal dysplasia Sutcliffe type	http://purl.obolibrary.org/obo/MONDO_0008479	Spondylometaphyseal dysplasia, 'corner fracture' type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).	UMLS:C0432221|MESH:C535793|ORPHA:93315|SNOMEDCT:254078005|http://identifiers.org/omim/184255
MONDO:0008478	spondylometaphyseal dysplasia, Schmidt type	biolink:Disease	mondo	GARD:0000504|SCTID:719304005|MESH:C535794|Orphanet:93316|OMIM:184253|ICD10:Q77.8	ordo_disease	spondylometaphyseal dysplasia Schmidt type|spondylometaphyseal dysplasia, Algerian type|spondylometaphyseal dysplasia with severe genu valgum|spondylometaphyseal dysplasia, Schmidt type|Schmid metaphyseal dysostosis|spondylometaphyseal dysplasia Algerian type	http://purl.obolibrary.org/obo/MONDO_0008478	Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.	MESH:C535794|SNOMEDCT:719304005|ORPHA:93316|http://identifiers.org/omim/184253
MONDO:0008477	spondylometaphyseal dysplasia, Kozlowski type	biolink:Disease	mondo	GARD:0003047|ICD10:Q77.8|Orphanet:93314|DOID:0111554|OMIM:184252|MESH:C535797	ordo_disease|gard_rare	Jequier-Kozlowski syndrome|Jequier Kozlowski skeletal dysplasia|spondylometaphyseal dysplasia, Kozlowski type; SMDK|SMDK|skeletal dysplasia Jequier-Kozlowski type|SmD Kozlowski type|SmD, Kozlowski type|spondylometaphyseal dysplasia, Kozlowski type|Dysmorphism arthrogryposis skeletal maturation advanced	http://purl.obolibrary.org/obo/MONDO_0008477	Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.	UMLS:C0265280|DOID:0111554|MESH:C535797|ORPHA:93314|http://identifiers.org/omim/184252
MONDO:0008476	spondyloepimetaphyseal dysplasia, Strudwick type	biolink:Disease	mondo	GARD:0000134|SCTID:702350003|OMIM:184250|ICD9:758.89|Orphanet:93346|ICD10:Q77.7|DOID:0080028	gard_rare|ordo_disease	SMED Strudwick type|Semdc|spondyloepimetaphyseal dysplasia, Strudwick type; SEMDSTWK|spondylometaepiphyseal dysplasia congenita, Strudwick type|spondylometaphyseal dysplasia|Smed, type 1|Strudwick syndrome|spondyloepimetaphyseal dysplasia, Strudwick type|SMED type 1|SEMDSTWK|spondyloepimetaphyseal dysplasia Strudwick type|spondyloepimetaphyseal dysplasia congenita, Strudwick type|dappled metaphysis syndrome|SmD|SEMD, Strudwick type|Smed, Strudwick type	http://purl.obolibrary.org/obo/MONDO_0008476	Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).	ORPHA:93346|SNOMEDCT:702350003|http://identifiers.org/omim/184250|DOID:0080028
MONDO:0008475	spondylolisthesis (disease)	biolink:Disease	mondo	UMLS:C0038016|NCIT:C35033|HP:0003302|ICD10:M43.10|EFO:0007493|OMIM:184200|MESH:D013168|DOID:6682|ICD10:M43.1|SCTID:274152003		spondylolisthesis	http://purl.obolibrary.org/obo/MONDO_0008475	A condition in which there is forward displacement of a vertebral bone over the on below it.	SNOMEDCT:274152003|http://identifiers.org/omim/184200|NCIT:C35033|UMLS:C0038016|DOID:6682|MESH:D013168
MONDO:0008474	spondyloepiphyseal dysplasia tarda, autosomal dominant	biolink:Disease	mondo	UMLS:C1866717|OMIM:184100|GARD:0010624|MESH:C566658	gard_rare	spondyloepiphyseal dysplasia tarda, autosomal dominant|autosomal dominant spondyloepiphyseal dysplasia tarda	http://purl.obolibrary.org/obo/MONDO_0008474	Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. Signs and symptoms are generally physically apparent by puberty; however, abnormalities may be seen on X-ray at an earlier age. Affected people may have skeletal abnormalities, short stature (with a short neck and trunk, specifically), scoliosis, kyphosis, lumbar hyperlordosis (exaggerated curvature of the lower back), and early-onset progressive osteoarthritis of the hips and knees. Some cases of autosomal dominant SEDT may be caused by changes (mutations) in the COL2A1 gene. As the name suggests, the condition is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include surgery and pain management strategies.	UMLS:C1866717|http://identifiers.org/omim/184100|MESH:C566658
GO:0100017	obsolete negative regulation of cell-cell adhesion by transcription from RNA polymerase II promoter	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0100017	OBSOLETE. Any transcription from RNA polymerase II promoter process that negatively regulates single organismal cell-cell adhesion.	
MONDO:0008473	spondyloepiphyseal dysplasia, Maroteaux type	biolink:Disease	mondo	SCTID:719204007|ICD10:Q77.7|GARD:0000994|UMLS:CN202294|DOID:0111553|OMIM:184095|Orphanet:263482	ordo_disease	spondyloepiphyseal dysplasia, Maroteaux type|pseudo-Morquio syndrome, type 2|brachyolmia Maroteaux type|spondyloepiphyseal dysplasia Maroteaux type|pseudo-Morquio syndrome type 2|Sed, Maroteaux type	http://purl.obolibrary.org/obo/MONDO_0008473	Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.	DOID:0111553|ORPHA:263482|UMLS:CN202294|http://identifiers.org/omim/184095|SNOMEDCT:719204007
GO:0100018	obsolete regulation of glucose import by transcription from RNA polymerase II promoter	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0100018	OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates glucose import.	
MONDO:0008472	spondyloepiphyseal dysplasia, MacDermot type	biolink:Disease	mondo	Orphanet:163668|OMIM:184000|UMLS:C1866719|MESH:C566659|ICD10:Q77.7	ordo_malformation_syndrome	spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome|spondyloepiphyseal dysplasia, myopia, and sensorineural deafness	http://purl.obolibrary.org/obo/MONDO_0008472	Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness.	ORPHA:163668|UMLS:C1866719|http://identifiers.org/omim/184000|MESH:C566659
MONDO:0008471	spondyloepiphyseal dysplasia congenita	biolink:Disease	mondo	ICD10:Q77.7|MedDRA:10062920|DOID:14789|Orphanet:94068|ICD9:756.9|MESH:C535788|SCTID:278713008|OMIM:183900|GARD:0004987	ordo_disease|gard_rare	SEDC|spondyloepiphyseal dysplasia congenita; SEDC|spondyloepiphyseal dysplasia congenita|late spondyloepiphyseal dysplasia|Spranger-Wiedemann disease|spondyloepiphyseal dysplasia tarda, X-linked; SEDT|congenital spondyloepiphyseal dysplasia|SED congenita|spondyloepiphyseal dysplasia, congenital type	http://purl.obolibrary.org/obo/MONDO_0008471	Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.	DOID:14789|MESH:C535788|MEDDRA:10062920|ORPHA:94068|UMLS:C2745959|SNOMEDCT:278713008|http://identifiers.org/omim/183900
MONDO:0008470	spondyloepiphyseal dysplasia with punctate corneal dystrophy	biolink:Disease	mondo	MESH:C566660|OMIM:183850|UMLS:C1866727|Orphanet:163673		spondyloepiphyseal dysplasia with punctate corneal dystrophy|spondyloepiphyseal dysplasia, Byers type	http://purl.obolibrary.org/obo/MONDO_0008470		ORPHA:163673|UMLS:C1866727|MESH:C566660|http://identifiers.org/omim/183850
FOODON:03400004	obsolete: product type, other	biolink:OntologyClass	mondo	http://www.langual.org/langual_thesaurus.asp?termid=A0004			http://purl.obolibrary.org/obo/FOODON_03400004		
MONDO:0021447	benign neoplasm of testis	biolink:Disease	mondo	UMLS:C0154007|SCTID:92428008|ICD9:222.0|NCIT:C3612		benign tumor of the testis|benign testicular neoplasm|benign neoplasm of the testis|benign testicular tumor|testis benign neoplasm|benign tumor of testis	http://purl.obolibrary.org/obo/MONDO_0021447	A benign neoplasm that involves the testis.	UMLS:C0154007|NCIT:C3612|SNOMEDCT:92428008
MONDO:0021448		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021448		
MONDO:0021449	benign neoplasm of stomach	biolink:Disease	mondo	ICD9:211.1|NCIT:C3599|ICD10:D13.1|UMLS:C0153943|SCTID:92411005		stomach tumors, benign|stomach benign neoplasm|gastric neoplasms, benign|benign gastric tumor|benign gastric neoplasm|benign tumors of the stomach|benign tumors of stomach|benign gastric tumors|benign neoplasm of the stomach|stomach neoplasms, benign|gastric tumors, benign|benign tumor of the stomach|benign tumor of stomach|benign stomach tumors|benign stomach neoplasms	http://purl.obolibrary.org/obo/MONDO_0021449	A benign neoplasm that involves the stomach.	SNOMEDCT:92411005|UMLS:C0153943|NCIT:C3599
MONDO:0021440	benign neoplasm of skin	biolink:Disease	mondo	UMLS:C0004998|SCTID:92384009|ICD9:216.9|NCIT:C2896|ICD9:216.8		skin neoplasms, benign|zone of skin benign neoplasm|benign skin neoplasm|benign cutaneous neoplasm|benign cutaneous tumor|benign tumor of skin|benign tumor of the skin|benign skin tumor|benign neoplasm of the skin	http://purl.obolibrary.org/obo/MONDO_0021440	A benign neoplasm that involves the zone of skin.	UMLS:C0004998|SNOMEDCT:92384009|NCIT:C2896
MONDO:0021441	benign neoplasm of exocrine pancreas	biolink:Disease	mondo	NCIT:C4613|SCTID:271956003|UMLS:C0347285		benign exocrine pancreatic neoplasm|benign exocrine pancreas neoplasm|benign neoplasm of the exocrine pancreas|benign exocrine pancreas tumor|benign tumor of the exocrine pancreas|benign tumor of exocrine pancreas|exocrine pancreas benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0021441	A benign neoplasm that involves the exocrine pancreas.	UMLS:C0347285|NCIT:C4613|SNOMEDCT:271956003
MONDO:0021443	benign neoplasm of lymph node	biolink:Disease	mondo	DOID:0080617|NCIT:C3636|UMLS:C0154054|SCTID:92197001|ICD9:229.0		benign tumor of lymph node|benign tumor of the lymph node|benign neoplasm of the lymph node|benign lymph node tumor|benign lymph node neoplasm|lymph node benign neoplasm|benign lymph node neoplasm NOS	http://purl.obolibrary.org/obo/MONDO_0021443	A benign neoplasm that involves the lymph node.	UMLS:C0154054|NCIT:C3636|SNOMEDCT:92197001|DOID:0080617
MONDO:0021444	benign neoplasm of large intestine	biolink:Disease	mondo	SCTID:92170008|NCIT:C4610|UMLS:C0347272		colorectal neoplasms, benign|large intestine benign neoplasm|benign neoplasm of the large bowel|benign neoplasm of large bowel|benign tumor of the large bowel|benign large bowel tumor|tumors, colorectal, benign|colorectal tumors, benign|benign tumor of large bowel|benign colorectal neoplasm|benign large intestine neoplasm|benign colorectal tumors|benign neoplasm of the large intestine|benign large intestine tumor|benign colorectal tumor|benign tumor of the large intestine|benign tumor of large intestine|neoplasms, colorectal, benign|benign large bowel neoplasm|benign colorectal neoplasms	http://purl.obolibrary.org/obo/MONDO_0021444	A benign neoplasm that involves the large intestine.	UMLS:C0347272|NCIT:C4610|SNOMEDCT:92170008
MONDO:0021445	benign neoplasm of oral cavity	biolink:Disease	mondo	UMLS:C0347197|NCIT:C7607|SCTID:419645003|ICD9:210.4		benign neoplasm of the oral cavity|benign neoplasm of the mouth|benign oral cavity tumor|benign tumor of the oral cavity|benign neoplasm of mouth|oral cavity benign neoplasm|benign tumor of oral cavity|benign mouth tumor|benign mouth neoplasm|benign tumor of the mouth|benign oral cavity neoplasm|benign tumor of mouth	http://purl.obolibrary.org/obo/MONDO_0021445	A benign neoplasm that involves the oral cavity.	NCIT:C7607|UMLS:C0347197|SNOMEDCT:419645003
GO:0100020	obsolete regulation of transport by transcription from RNA polymerase II promoter	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0100020	OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates transport.	
GO:0100021	obsolete regulation of iron ion transport by transcription from RNA polymerase II promoter	biolink:OntologyClass	mondo			regulation of iron ion import by transcription from RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_0100021	OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates iron ion transport.	
MONDO:0021446	benign neoplasm of epiglottis	biolink:Disease	mondo	NCIT:C4606|SCTID:92089006|UMLS:C0347236		epiglottis benign neoplasm|benign Epiglottis neoplasm|benign epiglottic neoplasm|benign tumor of Epiglottis|benign tumor of the Epiglottis|benign Epiglottis tumor|benign epiglottic tumor|benign neoplasm of the Epiglottis	http://purl.obolibrary.org/obo/MONDO_0021446	A benign neoplasm that involves the epiglottis.	UMLS:C0347236|NCIT:C4606|SNOMEDCT:92089006
GO:0100023	obsolete regulation of meiotic nuclear division by transcription from RNA polymerase II promoter	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0100023	OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates meiotic nuclear division.	
MONDO:0008489	sternum, premature obliteration of sutures of	biolink:Disease	mondo	OMIM:184800		sternum, premature obliteration of sutures of	http://purl.obolibrary.org/obo/MONDO_0008489		http://identifiers.org/omim/184800
GO:0100024	obsolete regulation of carbohydrate metabolic process by transcription from RNA polymerase II promoter	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0100024	OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates carbohydrate metabolic process.	
MONDO:0008488	holoprosencephaly-radial heart renal anomalies syndrome	biolink:Disease	mondo	OMIM:184705|Orphanet:3186|UMLS:C1866649|GARD:0002727|ICD10:Q87.8|MESH:C566655|SCTID:716233007	gard_rare|ordo_malformation_syndrome	STEINFELD syndrome|Steinfeld syndrome|holoprosencephaly radial heart renal anomalies	http://purl.obolibrary.org/obo/MONDO_0008488	Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder.	UMLS:C1866649|ORPHA:3186|SNOMEDCT:716233007|http://identifiers.org/omim/184705|MESH:C566655
NCBITaxon:1870884	Clostridioides	organism taxon	mondo	PMID:27370902|GC_ID:11|PMID:27902176			http://purl.obolibrary.org/obo/NCBITaxon_1870884		
GO:0100025	obsolete negative regulation of cellular amino acid biosynthetic process by transcription from RNA polymerase II promoter	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0100025	OBSOLETE. Any transcription from RNA polymerase II promoter process that negatively regulates cellular amino acid biosynthetic process.	
MONDO:0008487	polycystic ovary syndrome	biolink:Disease	mondo	SCTID:69878008|ICD10:E28.2|NCIT:C26862|UMLS:C0032460|MESH:D011085|COHD:195501|OMIM:184700|ICD9:256.4|EFO:0000660|DOID:11612		PCOS1|polycystic ovary syndrome 1; PCOS1|polycystic ovary syndrome 1|multicystic ovaries|polycystic ovarian disease|polycystic ovary|Stein-Leventhal syndrome|hyperandrogenemia|PCOS|Pcos|Stein-Leventhal synd.|polycystic ovary syndrome|polycystic ovaries|Pco1	http://purl.obolibrary.org/obo/MONDO_0008487	A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity.	MESH:D011085|DOID:11612|NCIT:C26862|SNOMEDCT:69878008|UMLS:C0032460|http://identifiers.org/omim/184700
GO:0100026	positive regulation of DNA repair by transcription from RNA polymerase II promoter	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0100026	Any transcription from RNA polymerase II promoter process that positively regulates DNA repair.	
MONDO:0008486	steatocystoma multiplex-natal teeth syndrome	biolink:Disease	mondo	OMIM:184510|UMLS:C1866650|Orphanet:3184|GARD:0005004|ICD10:L72.2|MESH:C537487	ordo_malformation_syndrome	STEATOCYSTOMA multiplex with NATAL teeth|Natal teeth and steatocystoma multiplex	http://purl.obolibrary.org/obo/MONDO_0008486	The syndrome steatocystoma multiplex and natal teeth is characterized by generalized multiple steatocystomas and natal teeth.	UMLS:C1866650|ORPHA:3184|http://identifiers.org/omim/184510|MESH:C537487
MONDO:0008485	sebocystomatosis	biolink:Disease	mondo	SCTID:109433009|OMIM:184500|Orphanet:841|DOID:0111556|ICD10:L72.2|UMLS:C0259771|UMLS:C3671377|GARD:0005003	ordo_disease	Steatocystoma multiplex|multiplex steatocystoma|STEATOCYSTOMA multiplex|sebaceous cysts, multiple|multiple sebaceous cysts	http://purl.obolibrary.org/obo/MONDO_0008485	Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities.	DOID:0111556|ORPHA:841|UMLS:C0259771|UMLS:C3671377|http://identifiers.org/omim/184500|SNOMEDCT:109433009
MONDO:0008484	stapes ankylosis with broad thumbs and toes	biolink:Disease	mondo	SCTID:719305006|ICD10:Q87.8|OMIM:184460|Orphanet:140917|UMLS:C1866656	ordo_malformation_syndrome	Teunissen-Cremers syndrome|ankylosis of stapes, hyperopia, Broad thumbs, Broad first toes, and syndactyly|stapes ankylosis with BROAD thumb and toes|stapes ankylosis syndrome without symphalangism	http://purl.obolibrary.org/obo/MONDO_0008484	Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	SNOMEDCT:719305006|UMLS:C1866656|http://identifiers.org/omim/184460|ORPHA:140917
MONDO:0008483	stuttering, familial persistent, 1	biolink:Disease	mondo	OMIM:184450		stuttering, familial persistent, 1|stammering|stuttering, familial persistent, 1; STUT1|STUT1	http://purl.obolibrary.org/obo/MONDO_0008483		http://identifiers.org/omim/184450
MONDO:0008482	Sprengel deformity (disease)	biolink:Disease	mondo	ICD10:Q74.0|SCTID:79120002|MESH:C535802|MedDRA:10010455|Orphanet:3181|HP:0000912|GARD:0007693|OMIM:184400	ordo_morphological_anomaly	Sprengel's deformity|Sprengel's shoulder|congenital elevation of the scapula|congenital upward displacement of the scapula|Sprengel deformity|high scapula	http://purl.obolibrary.org/obo/MONDO_0008482		MESH:C535802|SNOMEDCT:79120002|ORPHA:3181|UMLS:C0152438|http://identifiers.org/omim/184400|MEDDRA:10010455
MONDO:0008481	spondylosis, cervical	biolink:Disease	mondo	OMIM:184300|UMLS:C1384641|SCTID:387800004		spondylosis, cervical	http://purl.obolibrary.org/obo/MONDO_0008481		UMLS:C1384641|http://identifiers.org/omim/184300|SNOMEDCT:387800004
MONDO:0008480	odontochondrodysplasia	biolink:Disease	mondo	OMIM:184260|ICD10:Q78.8|SCTID:717823001|Orphanet:166272|UMLS:CN200045|GARD:0008717	ordo_malformation_syndrome	spondylometaphyseal dysplasia with dentinogenesis imperfecta|chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome|Goldblatt chondrodysplasia|odontochondrodysplasia|ODCD|Goldblatt syndrome	http://purl.obolibrary.org/obo/MONDO_0008480	Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta.	ORPHA:166272|http://identifiers.org/omim/184260|SNOMEDCT:717823001|UMLS:CN200045
NCBITaxon:7742	Vertebrata <Metazoa>	organism taxon	mondo	GC_ID:1		Vertebrata|vertebrates|vertebrates	http://purl.obolibrary.org/obo/NCBITaxon_7742		
MONDO:0021436		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021436		
HGNC:18568	HSFY1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18568		
MONDO:0021437	lipoma of stomach	biolink:Disease	mondo	UMLS:C1333777|SCTID:695751021000132104|NCIT:C5258		stomach lipoma|lipoma of the stomach|gastric lipoma	http://purl.obolibrary.org/obo/MONDO_0021437	A lipoma that involves the stomach.	SNOMEDCT:695751021000132104|NCIT:C5258|UMLS:C1333777
MONDO:0021439	benign neoplasm of pituitary gland	biolink:Disease	mondo	NCIT:C4782|UMLS:C0496901|DOID:60009|SCTID:92296004|ICD10:D35.2		pituitary gland benign neoplasm|benign pituitary neoplasm|benign pituitary gland neoplasm|benign neoplasm of the pituitary gland|pituitary tumor, benign|benign pituitary gland tumor|benign tumor of the pituitary gland|benign neoplasm of the pituitary|benign neoplasm of pituitary|benign tumor of pituitary gland|pituitary neoplasms, benign|benign tumor of the pituitary|benign pituitary tumor|benign tumor of pituitary	http://purl.obolibrary.org/obo/MONDO_0021439	A benign neoplasm that involves the pituitary gland.	SNOMEDCT:92296004|NCIT:C4782|UMLS:C0496901|DOID:60009
MONDO:0021431	squamous cell carcinoma of buccal mucosa	biolink:Disease	mondo	NCIT:C4040|SCTID:254437001|UMLS:C0280299		scc of the buccal mucosa|scc of buccal mucosa|squamous cell carcinoma of the buccal mucosa|buccal mucosa squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0021431	A squamous cell carcinoma that involves the buccal mucosa.	NCIT:C4040|SNOMEDCT:254437001|UMLS:C0280299
MONDO:0021433		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021433		
MONDO:0021434		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021434		
MONDO:0008459	spinocerebellar atrophy with pupillary paralysis	biolink:Disease	mondo	MESH:C566668|UMLS:C1866746|OMIM:183100		spinocerebellar atrophy with pupillary paralysis	http://purl.obolibrary.org/obo/MONDO_0008459		http://identifiers.org/omim/183100|MESH:C566668|UMLS:C1866746
GO:0100032	obsolete positive regulation of phospholipid biosynthetic process by transcription from RNA polymerase II promoter	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0100032	OBSOLETE. Any transcription from RNA polymerase II promoter process that positively regulates phospholipid biosynthetic process.	
MONDO:0008458	spinocerebellar ataxia type 2	biolink:Disease	mondo	UMLS:C0752121|NCIT:C148315|DOID:0050955|DOID:0060204|GARD:0004072|Orphanet:98756|ICD10:G11.2|SCTID:715751004|OMIM:183090	ordo_disease|predisposition	spinocerebellar ataxia Cuban type|amyotrophic lateral sclerosis 13|spinocerebellar atrophy 2|spinocerebellar ataxia 2|spinocerebellar ataxia type 2|SCA2|spinocerebellar ataxia with slow eye movements|olivopontocerebellar atrophy, Holguin type|spinocerebellar ataxia 2; SCA2|amyotrophic lateral sclerosis, susceptibility to, 13|Wadia-swami syndrome|spinocerebellar Degeneration with slow eye movements|ATXN2 autosomal dominant cerebellar ataxia type I|amyotrophic lateral sclerosis type 13|olivopontocerebellar atrophy 2|ALS13|cerebellar Degeneration with slow eye movements|Wadia swami syndrome|autosomal dominant cerebellar ataxia type I caused by mutation in ATXN2|OPCA2|spinocerebellar ataxia, Cuban type|olivopontocerebellar atrophy Holguin type|SCA 2	http://purl.obolibrary.org/obo/MONDO_0008458	Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.	http://identifiers.org/omim/183090|UMLS:C0752121|ORPHA:98756|DOID:0050955|DOID:0060204|SNOMEDCT:715751004|NCIT:C148315
MONDO:0008457	spinocerebellar ataxia type 6	biolink:Disease	mondo	DOID:0050956|UMLS:C0752124|NCIT:C142838|OMIM:183086|GARD:0010351|SCTID:715752006|ICD10:G11.2|Orphanet:98758	gard_rare|ordo_disease	SCA6|spinocerebellar ataxia type 6|spinocerebellar ataxia 6; SCA6|CACNA1A autosomal dominant cerebellar ataxia type III|spinocerebellar ataxia 6|autosomal dominant cerebellar ataxia type III caused by mutation in CACNA1A	http://purl.obolibrary.org/obo/MONDO_0008457	Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus.	http://identifiers.org/omim/183086|UMLS:C0752124|ORPHA:98758|DOID:0050956|SNOMEDCT:715752006|NCIT:C142838
UBERON:0005092	right horn of sinus venosus	biolink:AnatomicalEntity	mondo			sinus venosus right horn	http://purl.obolibrary.org/obo/UBERON_0005092		
MONDO:0008456	spinocerebellar ataxia with rigidity and peripheral neuropathy	biolink:Disease	mondo	MESH:C566669|OMIM:183050|UMLS:C1866770		spinocerebellar ataxia with rigidity and peripheral neuropathy	http://purl.obolibrary.org/obo/MONDO_0008456		http://identifiers.org/omim/183050|MESH:C566669|UMLS:C1866770
MONDO:0008455	spinal muscular atrophy, segmental	biolink:Disease	mondo	OMIM:183020|UMLS:C1866774|MESH:C566670		spinal muscular atrophy, segmental	http://purl.obolibrary.org/obo/MONDO_0008455		http://identifiers.org/omim/183020|MESH:C566670|UMLS:C1866774
UBERON:0005090	muscle structure	biolink:AnatomicalEntity	mondo			muscle element|musculus|muscle	http://purl.obolibrary.org/obo/UBERON_0005090	Muscle structures are contractile cells, tissues or organs that are found in multicellular organisms[GO].	
GO:0100036	obsolete positive regulation of purine nucleotide biosynthetic process by transcription from RNA polymerase II promoter	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0100036	OBSOLETE. Any transcription from RNA polymerase II promoter process that positively regulates purine nucleotide biosynthetic process.	
MONDO:0008454	spinal intradural arachnoid cysts	biolink:Disease	mondo	MESH:C536878|GARD:0009701|OMIM:182990	gard_rare	spinal intradural arachnoid cysts|arachnoid cysts, spinal intradural	http://purl.obolibrary.org/obo/MONDO_0008454	Spinal intradural arachnoid cysts are cerebrospinal fluid -filled sacs that are located between the spinal cord and the arachnoid membrane (one of the three membranes that cover the brain and spinal cord). The signs and symptoms of the condition vary based on the size and location of the cysts. Some affected people may have no suspicious symptoms while others experience progressive back and leg pain; tingling or numbness in the hands or feet; weakness of the legs; and involuntary muscle spasms (spasticity) that result in slow, stiff movements of the legs. When present, symptoms usually occur when the cysts compress the spinal cord or other nearby nerves. Spinal intradural arachnoid cysts are often present at birth and arecaused by developmental abnormalities in the spinal cord that occur during the pregnancy. They can also result from a previous infection or injury and develop later in life. Although there is disagreement in the medical community regarding when to treat spinal intradural arachnoid cysts, the need for treatment generally depends on the size and location of the cyst and whether or not it is causing symptoms. When indicated, the cysts are typically treated with surgery.	MESH:C536878|http://identifiers.org/omim/182990
MONDO:0008453	adult-onset proximal spinal muscular atrophy, autosomal dominant	biolink:Disease	mondo	UMLS:CN200940|DOID:0111194|OMIM:182980|Orphanet:209335|ICD10:G12.1	ordo_disease	autosomal dominant adult-onset proximal SMA|SMAFK|spinal muscular atrophy, late-onset, FINKEL type; SMAFK|autosomal dominant adult-onset proximal spinal muscular atrophy|spinal muscular atrophy, proximal, adult, autosomal dominant|Finkel disease|autosomal dominant late-onset spinal muscular atrophy, Finkel type|spinal muscular atrophy, late-onset, FINKEL type|Finkel late-adult type Sma	http://purl.obolibrary.org/obo/MONDO_0008453		ORPHA:209335|DOID:0111194|UMLS:CN200940|http://identifiers.org/omim/182980
MONDO:0008452	spinal muscular atrophy, facioscapulohumeral type	biolink:Disease	mondo	MESH:C566674|UMLS:C1866783|OMIM:182970		Fshsma|spinal muscular atrophy, facioscapulohumeral type	http://purl.obolibrary.org/obo/MONDO_0008452		MESH:C566674|http://identifiers.org/omim/182970|UMLS:C1866783
MONDO:0008451	neuronopathy, distal hereditary motor, type 1	biolink:Disease	mondo	Orphanet:139518|OMIM:182960|NCIT:C132826|MESH:C566675|UMLS:C1866784|ICD10:G12.2|DOID:0111200	ordo_disease	neuronopathy, distal hereditary motor, type I; HMN1|autosomal dominant distal juvenile spinal muscular atrophy type 1|neuronopathy, distal hereditary motor, type I|neuropathy, distal hereditary motor, type 1|Charcot-Marie-Tooth disease, spinal, I|HMN1|spinal muscular atrophy, distal, juvenile, autosomal dominant, 1|HMN 1|dHMN1|distal hereditary motor neuronopathy type I|Charcot-Marie-Tooth disease, spinal, 1	http://purl.obolibrary.org/obo/MONDO_0008451	An autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration.	MESH:C566675|DOID:0111200|http://identifiers.org/omim/182960|NCIT:C132826|UMLS:C1866784|ORPHA:139518
MONDO:0008450	spinal arachnoiditis	biolink:Disease	mondo	OMIM:182950|UMLS:C1710146|SCTID:426055002|MESH:C531624|NCIT:C50749		arachnoiditis, spinal|spinal arachnoiditis	http://purl.obolibrary.org/obo/MONDO_0008450	A chronic adhesive arachnoiditis in the spinal arachnoid, with root and spinal cord symptoms similar to those caused by pressure from a tumor.	UMLS:C1710146|http://identifiers.org/omim/182950|NCIT:C50749|MESH:C531624|SNOMEDCT:426055002
HGNC:18539	STX1B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18539		
UBERON:0005096	descending thin limb	biolink:AnatomicalEntity	mondo			thin descending limb of the loop of Henle|pars descendens (tubulus attenuatus)|descending limb of Henle's loop|thin descending limb of loop of Henle|thin descending loop of Henle|loop of Henle thin descending limb|descending limb of loop of Henle|loop of Henle descending thin limb|descending thin limb of loop of Henle|thin descending limb	http://purl.obolibrary.org/obo/UBERON_0005096	The descending thin limb is a part of the loop of Henle situated just after the proximal straight tubule (S3). It extends to the tip of the loop of Henle[GO].	
UBERON:0005095	kidney rudiment	biolink:AnatomicalEntity	mondo			kidney anlage	http://purl.obolibrary.org/obo/UBERON_0005095	.	
MONDO:0021427	squamous cell carcinoma of lip	biolink:Disease	mondo	SCTID:255071008|NCIT:C4042|UMLS:C0280302|Orphanet:502366	ordo_disease	lip squamous cell carcinoma|scc of the Lip|scc of Lip|lip scc|squamous cell carcinoma of the Lip	http://purl.obolibrary.org/obo/MONDO_0021427	A squamous cell carcinoma that involves the lip.	UMLS:C0280302|NCIT:C4042|SNOMEDCT:255071008|ORPHA:502366
MONDO:0021429	squamous cell carcinoma of floor of mouth	biolink:Disease	mondo	SCTID:276954004|NCIT:C4041|UMLS:C0280300		squamous cell carcinoma of the floor of mouth|mouth floor squamous cell carcinoma|scc of floor of mouth|scc of the floor of mouth|floor of mouth squamous cell carcinoma|floor of mouth scc	http://purl.obolibrary.org/obo/MONDO_0021429	A squamous cell carcinoma that involves the mouth floor.	UMLS:C0280300|NCIT:C4041|SNOMEDCT:276954004
MONDO:0021420	polyp of vocal cord	biolink:Disease	mondo	UMLS:C0042929|SCTID:9078005|NCIT:C3440		laryngeal vocal fold polyp|vocal cord polyp|polyp of the vocal cord	http://purl.obolibrary.org/obo/MONDO_0021420	A non-neoplastic polypoid swelling of the vocal cord mucosa. It is usually unilateral and caused by excessive use of the voice.	NCIT:C3440|SNOMEDCT:9078005|UMLS:C0042929
NCBITaxon:43987	Geotrichum	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_43987		
MONDO:0021422		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021422		
NCBITaxon:7711	Chordata	organism taxon	mondo	GC_ID:1		chordates|chordates	http://purl.obolibrary.org/obo/NCBITaxon_7711		
MONDO:0021424	hemangiopericytoma of skin	biolink:Disease	mondo	NCIT:C4492|UMLS:C0346084|SCTID:254796009		hemangiopericytoma of the skin|skin hemangiopericytoma|zone of skin hemangiopericytoma	http://purl.obolibrary.org/obo/MONDO_0021424	A hemangiopericytoma that involves the zone of skin.	SNOMEDCT:254796009|NCIT:C4492|UMLS:C0346084
MONDO:0008469	spondyloepimetaphyseal dysplasia-hypotrichosis syndrome	biolink:Disease	mondo	Orphanet:168443|MESH:C535783|ICD10:Q77.7|UMLS:C1866728|GARD:0010101|OMIM:183849	ordo_disease	Whyte Petersen McAlister syndrome|Whyte syndrome|spondyloepimetaphyseal dysplasia with hypotrichosis	http://purl.obolibrary.org/obo/MONDO_0008469	Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings.	http://identifiers.org/omim/183849|MESH:C535783|UMLS:C1866728|ORPHA:168443
UBERON:0005082	tube lumen	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005082	A hole in a tube[GO].	
UBERON:0005081	ureter ureteric bud	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005081	The portion of the ureteric bud that contributes to the morphogenesis of the ureter. The ureter ureteric bud is the initial structure that forms the ureter[GO].	
MONDO:0008468	spondyloarthropathy, susceptibility to, 2	biolink:Disease	mondo	UMLS:C1866738|OMIM:183840|DOID:0080604	predisposition	spondyloarthropathy, susceptibility to, 2; SPDA2|spondyloarthropathy, susceptibility to, 2|SPDA2	http://purl.obolibrary.org/obo/MONDO_0008468		DOID:0080604|http://identifiers.org/omim/183840|UMLS:C1866738
NCBITaxon:2547934	Blastocystidae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2547934		
MONDO:0008467	Czeizel-Losonci syndrome	biolink:Disease	mondo	GARD:0004969|MESH:C566662|Orphanet:2437|ICD10:Q87.8|OMIM:183802|UMLS:C1866739	ordo_malformation_syndrome	split hand urinary anomalies spina bifida|split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects|split hand with obstructive uropathy, spina bifida and diaphragmatic defects|split hand-urinary anomalies-spina bifida syndrome	http://purl.obolibrary.org/obo/MONDO_0008467	Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987.	MESH:C566662|http://identifiers.org/omim/183802|UMLS:C1866739|ORPHA:2437
UBERON:0005080	metanephric ureteric bud	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005080	The portion of the ureteric bud tube that contributes to the morphogenesis of the metanephros[GO].	
MONDO:0008466	Karsch-Neugebauer syndrome	biolink:Disease	mondo	Orphanet:2329|ICD10:Q87.2|GARD:0004967|SCTID:722032005|MESH:C537319|UMLS:C1866740|OMIM:183800	ordo_malformation_syndrome	Nystagmus-split hand syndrome|split hand/split foot-nystagmus syndrome|split hand split foot nystagmus|KNS|split hand nystagmus syndrome|Karsch-Neugebauer syndrome|split-hand with congenital NYSTAGMUS, fundal changes, and cataracts	http://purl.obolibrary.org/obo/MONDO_0008466	Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus.	MESH:C537319|SNOMEDCT:722032005|http://identifiers.org/omim/183800|UMLS:C1866740|ORPHA:2329
MONDO:0008465	Patterson-Stevenson-Fontaine syndrome	biolink:Disease	mondo	Orphanet:2439|ICD10:Q87.0|SCTID:724069009|UMLS:C1866741|GARD:0004260|OMIM:183700	gard_rare|ordo_malformation_syndrome	split-foot deformity with ectrodactyly and mandibulofacial dysostosis|Patterson Stevenson Fontaine syndrome|split-foot deformity with mandibulofacial dysostosis|Patterson-Stevenson syndrome|split foot deformity-mandibulofacial dysostosis syndrome|Patterson-Stevenson-Fontaine syndrome	http://purl.obolibrary.org/obo/MONDO_0008465	Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies.	http://identifiers.org/omim/183700|UMLS:C3489790|SNOMEDCT:724069009|UMLS:C1866741|ORPHA:2439
MONDO:0008464	split hand-foot malformation 1	biolink:Disease	mondo	ICD10:Q71.6|OMIM:183600|DOID:0090021|UMLS:C2931019|GARD:0007685|NCIT:C75045		ectrodactyly|split-hand/foot deformity 1|split-hand/foot malformation type 1|split hand-foot malformation type 1|split-hand/foot malformation 1; SHFM1|SHFD1|SHFM1|split-hand deformity|split-hand/foot malformation 1|split-hand/foot malformation 1 with or without deafness	http://purl.obolibrary.org/obo/MONDO_0008464	Split-hand/foot malformation mapped to chromosome 7q21.3	NCIT:C75045|http://identifiers.org/omim/183600|DOID:0090021|UMLS:C2931019
MONDO:0008463	split-hand and split-foot with hypodontia	biolink:Disease	mondo	MESH:C566665|OMIM:183500|UMLS:C1866742		split-hand and split-foot with hypodontia	http://purl.obolibrary.org/obo/MONDO_0008463		http://identifiers.org/omim/183500|MESH:C566665|UMLS:C1866742
MONDO:0008462	split lower lip	biolink:Disease	mondo	OMIM:183400		split lower lip|split Lower type lip	http://purl.obolibrary.org/obo/MONDO_0008462		http://identifiers.org/omim/183400
MONDO:0008461	splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells	biolink:Disease	mondo	OMIM:183350|UMLS:C1866744|MESH:C566666		splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells	http://purl.obolibrary.org/obo/MONDO_0008461		MESH:C566666|UMLS:C1866744|http://identifiers.org/omim/183350
UBERON:0005089	sweat gland placode	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005089	An sweat gland placode is a thickening of the ectoderm that will give rise to the sweat gland bud[GO].	
MONDO:0008460	splenogonadal fusion-limb defects-micrognathia syndrome	biolink:Disease	mondo	OMIM:183300|GARD:0004963|Orphanet:2063|SCTID:726724005|ICD10:Q87.8|UMLS:C1866745|MESH:C537318	ordo_malformation_syndrome	splenogonadal fusion limb defects syndrome|splenogonadal fusion limb defects micrognatia|SGFLD syndrome|splenogonadal fusion limb defect syndrome|Sgfld syndrome|splenogonadal fusion with limb defects and micrognathia	http://purl.obolibrary.org/obo/MONDO_0008460	Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.	UMLS:C1866745|SNOMEDCT:726724005|ORPHA:2063|http://identifiers.org/omim/183300|MESH:C537318
UBERON:0005088	sebaceous gland placode	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005088	A sebaceous gland placode is a thickening of the ectoderm that will give rise to the sebaceous gland bud[GO].	
UBERON:0005087	tooth placode	biolink:AnatomicalEntity	mondo			dental anlage|tooth primordium|odontogenic placode|tooth germ|tooth anlage|dental placode|dental primordium	http://purl.obolibrary.org/obo/UBERON_0005087	An tooth placode is a thickening of the ectoderm that will give rise to the tooth bud[GO].	
UBERON:0005086	hair follicle placode	biolink:AnatomicalEntity	mondo			hair peg|hair gem|hair placode|vibrissa placode|hair germ	http://purl.obolibrary.org/obo/UBERON_0005086	A bud-like thickening in the epidermis consisting of elongated keratinocytes, which at the distal end are in touch with numerous aggregated specialized dermal fibroblasts, the dermal condensate.	
UBERON:0005085	ectodermal placode	biolink:AnatomicalEntity	mondo			epithelial placode	http://purl.obolibrary.org/obo/UBERON_0005085	An ectodermal placode is a thickening of the ectoderm that is the primordium of many structures derived from the ectoderm[GO]	
MONDO:0021416	polyp of gallbladder	biolink:Disease	mondo	NCIT:C3909|SCTID:197433003|UMLS:C0262493		polyp of the gallbladder|gallbladder polyp|gall bladder polyp	http://purl.obolibrary.org/obo/MONDO_0021416	A polyp that involves the gall bladder.	SNOMEDCT:197433003|UMLS:C0262493|NCIT:C3909
MONDO:0021418	polyp of ethmoidal sinus	biolink:Disease	mondo	SCTID:23966000|UMLS:C0264248|NCIT:C3932|ICD9:471.8		polyp of ethmoid sinus|polyp of the ethmoidal sinus|ethmoidal sinus polyp|ethmoid sinus polyp|ethmoidal polyp|polyp of the ethmoid sinus	http://purl.obolibrary.org/obo/MONDO_0021418	A polyp that involves the ethmoid sinus.	NCIT:C3932|UMLS:C0264248|SNOMEDCT:23966000
HGNC:18540	CPT1C	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18540		
GO:0006704	glucocorticoid biosynthetic process	biolink:OntologyClass	mondo			glucocorticoid anabolism|glucocorticoid synthesis|glucocorticoid formation|glucocorticoid biosynthesis	http://purl.obolibrary.org/obo/GO_0006704	The chemical reactions and pathways resulting in the formation of glucocorticoids, hormonal C21 corticosteroids synthesized from cholesterol.	
HGNC:3519	EYA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3519		
HGNC:3518	EXTL3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3518		
UBERON:0005111	metanephric pyramid	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005111	Metanephric pyramids are the conical masses that constitute the renal medulla in a metanephros; they contain the loops of Henle and the medullary collecting ducts[GO].	
UBERON:0005110	metanephric nephron	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005110	A metanephric nephron is the functional unit of the metanephros[GO].	
UBERON:0007778	umbilical artery endothelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0007778	An endothelium that is part of a umbilical artery.	
UBERON:0007779	transudate	biolink:AnatomicalEntity	mondo			plasma ultrafiltrate	http://purl.obolibrary.org/obo/UBERON_0007779	Any bodily fluid that has passed through a membrane such as the capillary wall, as a result of unbalanced hydrostatic and osmotic forces	
HP:0003468	Abnormal vertebral morphology	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:205043005|UMLS:C4020840|SNOMEDCT_US:74877002|UMLS:C4020839|Fyler:4108|UMLS:C0158775		Abnormal vertebral bodies|Vertebral anomalies|Abnormal vertebrae|Multiple vertebral anomalies|Abnormality of the vertebrae	http://purl.obolibrary.org/obo/HP_0003468	An abnormality of one or more of the vertebrae.	
HGNC:3522	EYA4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3522		
UBERON:0005117	metanephric distal convoluted tubule	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005117	The metanephric distal convoluted tubule is a portion of the metanephric nephron tubule that connects the metanephric loop of Henle to the collecting duct[GO].	
UBERON:0007771	epidermis gland	biolink:AnatomicalEntity	mondo			gland of epidermis|epidermal gland	http://purl.obolibrary.org/obo/UBERON_0007771	A gland that is part of a epidermis.	
UBERON:0005116	metanephric descending thin limb	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005116	It extends to the tip of the metanephric loop of Henle[GO].	
UBERON:0007772	scrotal sweat	biolink:AnatomicalEntity	mondo			sweat of scrotal sac|scrotum sweat|sweat of scrotum	http://purl.obolibrary.org/obo/UBERON_0007772	Any portion of sweat that is produced by a sweat gland of the scrotum.	
UBERON:0005115	metanephric cortical collecting duct	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005115	The metanephric cortical collecting duct is the portion of the metanephric collecting duct that resides in the renal cortex[GO].	
UBERON:0007773	scrotal sweat gland	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0007773	Any sweat gland that is part of a scrotum.	
GO:0006706	steroid catabolic process	biolink:OntologyClass	mondo			steroid breakdown|steroid catabolism|steroid degradation	http://purl.obolibrary.org/obo/GO_0006706	The chemical reactions and pathways resulting in the breakdown of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus.	
GO:0006707	cholesterol catabolic process	biolink:OntologyClass	mondo			cholesterol breakdown|cholesterol degradation|cholesterol catabolism	http://purl.obolibrary.org/obo/GO_0006707	The chemical reactions and pathways resulting in the breakdown of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones.	
UBERON:0005113	metanephric cortex mesenchyme	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005113		
NCBITaxon:90339	Rhinosporidium seeberi	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_90339		
NCBITaxon:90338	Rhinosporidium	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_90338		
HGNC:3529	F11	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3529		
HGNC:3528	F10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3528		
HGNC:3527	EZH2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3527		
NCBITaxon:7776	Gnathostomata <vertebrates>	organism taxon	mondo	GC_ID:1		Gnathostomata|jawed vertebrates	http://purl.obolibrary.org/obo/NCBITaxon_7776		
HGNC:18647	RTN4IP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18647		
HP:0003470	Paralysis	biolink:PhenotypicFeature	mondo	MSH:D010243|SNOMEDCT_US:44695005|UMLS:C0522224		Paralysis|Inability to move	http://purl.obolibrary.org/obo/HP_0003470	Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement.	
UBERON:0005109	metanephric smooth muscle tissue	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005109	Any smooth muscle tissue that is part of a metanephros.	
HGNC:3535	F2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3535		
UBERON:0005108	metanephric epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005108	An epithelium is a tissue that covers the internal or external surfaces of an anatomical structure[GO].	
HGNC:3534	F13B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3534		
UBERON:0005106	metanephric tubule	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005106	A metanephric tubule is an epithelial tube that is part of the metanephros[GO].	
HP:0003474	Sensory impairment	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:398026008|SNOMEDCT_US:59073000|MSH:D006987|SNOMEDCT_US:397974008|UMLS:C0020580		Hypoaesthesia|Hypoesthesia	http://purl.obolibrary.org/obo/HP_0003474	An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.	
HP:0003473	Fatigable weakness	biolink:PhenotypicFeature	mondo	UMLS:C0947912		Myasthenia|Fatigable weakness of limb muscles|Myasthenic weakness|Proximal muscle weakness due to defect at the neuromuscular junction|Generalized muscle weakness due to defect at the neuromuscular junction	http://purl.obolibrary.org/obo/HP_0003473	A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.	
HGNC:3531	F13A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3531		
UBERON:0007762	metatarsophalangeal joint of pedal digit 5	biolink:AnatomicalEntity	mondo			metatarsophalangeal joint of little toe|metatarsophalangeal joint of fifth toe|metatarsophalangeal joint of pedal digit V|metatarsophalangeal joint of fifth digit of foot	http://purl.obolibrary.org/obo/UBERON_0007762	A skeletal joint that connects a metatarsal bone and connects a distal phalanx of pedal digit 5.	
HGNC:3530	F12	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3530		
UBERON:0005103	mesonephric epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005103	An epithelium that is part of a mesonephros [Automatically generated definition].	
HGNC:18640	LDLRAP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18640		
HGNC:18618	LRRK2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18618		
UBERON:0032748	sacral spinal cord ventral horn	biolink:AnatomicalEntity	mondo			sacral spinal cord ventral horn|sacral spinal cord anterior horn	http://purl.obolibrary.org/obo/UBERON_0032748		
HGNC:3546	F8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3546		
HGNC:3544	F7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3544		
UBERON:0007750	metatarsophalangeal joint of pedal digit 1	biolink:AnatomicalEntity	mondo			metatarsophalangeal joint of great toe|first metatarsophalangeal joint|metatarsophalangeal joint of first toe|metatarsophalangeal joint of first digit of foot|metatarsophalangeal joint of pedal digit I|metatarsophalangeal joint of big toe	http://purl.obolibrary.org/obo/UBERON_0007750	A skeletal joint that connects a metatarsal bone and connects a distal phalanx of pedal digit 1.	
HGNC:3542	F5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3542		
NCBITaxon:1776223	Gorgoderoidea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1776223		
UBERON:0007747	metacarpophalangeal joint of manual digit 5	biolink:AnatomicalEntity	mondo			metacarpophalangeal joint of manual digit V|metacarpophalangeal joint of fifth digit of hand|metacarpophalangeal joint of little finger|metacarpophalangeal joint of fifth finger|metacarpo-phalangeal joint of digit 5 of fore-paw|metacarpophalangeal joint of digit 5	http://purl.obolibrary.org/obo/UBERON_0007747	A skeletal joint that connects a metacarpal bone and connects a proximal phalanx of manual digit 5.	
HGNC:18625	FKBP14	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18625		
HGNC:18626	IFT27	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18626		
HGNC:18623	COG8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18623		
HGNC:18621	COG6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18621		
HGNC:18622	COG7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18622		
HGNC:3553	FAAH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3553		
HGNC:18620	COG4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18620		
HGNC:3551	F9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3551		
MONDO:0008519	multiple synostoses syndrome 1	biolink:Disease	mondo	UMLS:C0342282|OMIM:186500|GARD:0003836		NOG multiple synostoses syndrome|nog multiple synostoses syndrome|symphalangism brachydactyly syndrome|synostoses, multiple, with brachydactyly|multiple synostoses syndrome type 1|Wl syndrome|synostoses multiple with brachydactyly|multiple synostoses syndrome 1; SYNS1|deafness-symphalangism syndrome of Herrmann|multiple synostoses syndrome 1|SYNS1|symphalangism-brachydactyly syndrome|multiple synostoses syndrome caused by mutation in NOG|multiple synostoses syndrome caused by mutation in nog|facioaudiosymphalangism syndrome	http://purl.obolibrary.org/obo/MONDO_0008519	Any multiple synostoses syndrome in which the cause of the disease is a mutation in the NOG gene.	UMLS:C0342282|http://identifiers.org/omim/186500
MONDO:0008518	calcaneonavicular coalition	biolink:Disease	mondo	ICD9:755.8|MESH:C538156|SCTID:62628008|GARD:0009863|DOID:14762|UMLS:C0175700|OMIM:186400		multiple synostosis syndrome|synostoses, tarsal, carpal, and digital|synostoses, tarsal, carpal and digital|calcaneonavicular coalition	http://purl.obolibrary.org/obo/MONDO_0008518	A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet.	UMLS:C0175700|DOID:14762|http://identifiers.org/omim/186400|MESH:C538156|SNOMEDCT:62628008
MONDO:0008517	syndactyly-polydactyly-ear lobe syndrome	biolink:Disease	mondo	GARD:0005090|Orphanet:3259|OMIM:186350|UMLS:C1861347|MESH:C566091	ordo_malformation_syndrome	hallux syndactyly ulnar polydactyly abnormal ear lobes|syndactyly-polydactyly-earlobe syndrome|Spel syndrome	http://purl.obolibrary.org/obo/MONDO_0008517		http://identifiers.org/omim/186350|ORPHA:3259|MESH:C566091|UMLS:C1861347
MONDO:0008516	syndactyly type 5	biolink:Disease	mondo	SCTID:719159004|Orphanet:93406|MESH:C538155|OMIM:186300|GARD:0005089|ICD10:Q70.2|ICD10:Q70.0	gard_rare|ordo_morphological_anomaly	SDTY5|SD5|syndactyly with associated metacarpal and metatarsal fusion|syndactyly, type V; SDTY5|syndactyly, type V|syndactyly, type 5|syndactyly with metacarpal and metatarsal fusion|postaxial syndactyly with metacarpal synostosis	http://purl.obolibrary.org/obo/MONDO_0008516	Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.	SNOMEDCT:719159004|ORPHA:93406|http://identifiers.org/omim/186300|MESH:C538155|UMLS:C1861348
MONDO:0008515	syndactyly type 4	biolink:Disease	mondo	UMLS:C1861355|GARD:0004434|ICD10:Q70.4|Orphanet:93405|OMIM:186200|MESH:C566092|SCTID:719158007	ordo_morphological_anomaly|gard_rare	LMBR1 non-syndromic syndactyly|syndactyly, type IV; SDTY4|syndactyly, type IV|non-syndromic syndactyly caused by mutation in LMBR1|SDTY4|polysyndactyly, Haas type|polysyndactyly type Haas|Sd4|syndactyly, type 4|Haas type syndactyly	http://purl.obolibrary.org/obo/MONDO_0008515	Syndactyly type 4 (SD4) is a very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5).	http://identifiers.org/omim/186200|SNOMEDCT:719158007|ORPHA:93405|MESH:C566092|UMLS:C1861355
MONDO:0008514	syndactyly type 3	biolink:Disease	mondo	Orphanet:93404|MESH:C538154|ICD10:Q70.1|OMIM:186100|GARD:0005088|UMLS:C1861366|SCTID:715725001	gard_rare|ordo_morphological_anomaly	Sdty3|GJA1 non-syndromic syndactyly|syndactyly of fingers 4 and 5|syndactyly, type III|non-syndromic syndactyly caused by mutation in GJA1|Ring and Little finger syndactyly|SD3|syndactyly of fingers four and five|syndactyly, type 3|syndactyly of the ring and little finger	http://purl.obolibrary.org/obo/MONDO_0008514	Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers.	SNOMEDCT:715725001|http://identifiers.org/omim/186100|ORPHA:93404|MESH:C538154|UMLS:C1861366
MONDO:0008513	synpolydactyly type 1	biolink:Disease	mondo	ICD10:Q70.0|UMLS:CN203278|OMIM:186000|Orphanet:295195|ICD10:Q70.2	ordo_clinical_subtype	HOXD13 non-syndromic synpolydactyly|SPD, Vordingborg type|synpolydactyly, Vordingborg type|synpolydactyly 1; SPD1|non-syndromic synpolydactyly caused by mutation in HOXD13|SD2, Vordingborg type|syndactyly, type 2|synpolydactyly type 1|synpolydactyly 1|SPD1|synpolydactyly with foot anomalies|SD2a	http://purl.obolibrary.org/obo/MONDO_0008513	Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the HOXD13 gene.	ORPHA:295195|http://identifiers.org/omim/186000|UMLS:CN203278
MONDO:0008512	syndactyly type 1	biolink:Disease	mondo	ICD10:Q70.3|GARD:0005081|ICD10:Q70.2|SCTID:715723008|ICD10:Q70.1|ICD10:Q70.0|UMLS:C4275033|UMLS:C1861380|OMIM:185900|Orphanet:93402	ordo_morphological_anomaly	Zygodactyly|Sd1|syndactyly, type 1|SDTY1|chromosome 2q35 DUPLICATION syndrome|craniosynostosis, Philadelphia type	http://purl.obolibrary.org/obo/MONDO_0008512	Syndactyly type 1 (SD1), also named zygodactyly in the past, is a distal limb malformation characterized by complete or partial webbing between the 3th and 4th fingers and/or the 2nd and 3rd toes.	SNOMEDCT:715723008|UMLS:C4275033|ORPHA:93402|http://identifiers.org/omim/185900|UMLS:C1861380
MONDO:0008511	proximal symphalangism (disease)	biolink:Disease	mondo	UMLS:C1861385|OMIMPS:185800|KEGG:H00484|HP:0100264|Orphanet:3250|GARD:0008182|DOID:0050788|MESH:C536223|ICD10:Q70.9	ordo_malformation_syndrome|prototype_pattern	symphalangism, Cushing type|Strasburger-Hawkins-Eldridge syndrome|vessel’s syndrome|Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome|hereditary absence of the proximal interphalangeal joints|proximal symphalangism|Cushing's symphalangism|hereditary absence of proximal interphalangeal joints	http://purl.obolibrary.org/obo/MONDO_0008511	Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.	DOID:0050788|ORPHA:3250|UMLS:C1861385|MESH:C536223
CHEBI:32504	phenylalaninate	biolink:ChemicalSubstance	mondo			phenylalaninate|phenylalanine anion|2-amino-3-phenylpropanoate	http://purl.obolibrary.org/obo/CHEBI_32504	An aromatic amino-acid anion that is the conjugate base of phenylalanine, arising from deprotonation of the carboxy group.	
MONDO:0008510	symphalangism with multiple anomalies of hands and feet	biolink:Disease	mondo	SCTID:732955001|OMIM:185750|ICD10:Q74.8|MESH:C566098|GARD:0005077|Orphanet:3246|UMLS:C1861391	ordo_malformation_syndrome|gard_rare	symphalangism with multiple anomalies of hands and feet|Learman syndrome	http://purl.obolibrary.org/obo/MONDO_0008510	Symphalangism with multiple anomalies of hands and feet is an exceedingly rare syndrome described in one family and characterized by proximal symphalangism and multiple hand and feet disorders (syndactyly, clinodactyly, hypoplasia of the thenar and hypothenar eminences, and a distinctive dermatoglyphic pattern). There have been no further descriptions in the literature since 1981.	ORPHA:3246|http://identifiers.org/omim/185750|UMLS:C1861391|MESH:C566098|SNOMEDCT:732955001
CHEBI:32505	phenylalaninium	biolink:ChemicalSubstance	mondo			phenylalaninium|1-carboxy-2-phenylethanaminium|phenylalanine cation	http://purl.obolibrary.org/obo/CHEBI_32505	An alpha-amino-acid cation that is the conjugate acid of phenylalanine, arising from protonation of the amino group.	
UBERON:0005156	reproductive structure	biolink:AnatomicalEntity	mondo			reproductive system structure|reproductive system element	http://purl.obolibrary.org/obo/UBERON_0005156	Any anatomical structure that is part of the reproductive system.	
UBERON:0005154	epithelial cord	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005154	A cord of epithelial cells without a lumen and usually several cells thick.	
UBERON:0005153	epithelial bud	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005153	A bud is a protrusion that forms from an epithelial sheet by localized folding.	
UBERON:0005151	metanephric proximal tubule	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005151	The metanephric proximal tubule is a metanephric nephron tubule that connects Bowman's capsule to the descending thin limb of the loop of Henle in the metanephros. It has a brush border epithelial morphology[GO].	
NCBITaxon:5152	Ophiostomataceae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_5152		
UBERON:0005158	parenchyma of central nervous system	biolink:AnatomicalEntity	mondo			central nervous system parenchyma|CNS parenchyma|parenchyma of CNS|parenchyma of central nervous system	http://purl.obolibrary.org/obo/UBERON_0005158	The functional tissue of the central nervous system consisting of neurons and glial cells.	
NCBITaxon:5151	Ophiostomatales	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_5151		
UBERON:0005157	epithelial fold	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005157	An epithelial sheet bent on a linear axis.	
MONDO:0008529	T-cell Subgroups, non-HLA-linked	biolink:Disease	mondo	OMIM:186950		T-cell Subgroups, non-HLA-linked	http://purl.obolibrary.org/obo/MONDO_0008529		http://identifiers.org/omim/186950
MONDO:0008528	tear protein, anodal	biolink:Disease	mondo	OMIM:186890|UMLS:C1861283		tear protein, anodal	http://purl.obolibrary.org/obo/MONDO_0008528		http://identifiers.org/omim/186890|UMLS:C1861283
MONDO:0008527	tarsal coalition	biolink:Disease	mondo	ICD9:755.67|OMIM:186850|SCTID:27173008		tarsal fusion|tarsal coalition	http://purl.obolibrary.org/obo/MONDO_0008527		SNOMEDCT:27173008|http://identifiers.org/omim/186850
MONDO:0008526	talonavicular coalition	biolink:Disease	mondo	MESH:C536895|GARD:0010062|OMIM:186750	gard_rare	talonavicular coalition	http://purl.obolibrary.org/obo/MONDO_0008526		MESH:C536895|http://identifiers.org/omim/186750
MONDO:0008525	syringomyelia, isolated	biolink:Disease	mondo	OMIM:186700|MESH:C566084		syringomyelia, noncommunicating isolated|syringomyelia, isolated	http://purl.obolibrary.org/obo/MONDO_0008525		http://identifiers.org/omim/186700|MESH:C566084
MONDO:0008524	syringomas, multiple	biolink:Disease	mondo	OMIM:186600|MESH:C566085|UMLS:C1861302		syringomas, multiple	http://purl.obolibrary.org/obo/MONDO_0008524		http://identifiers.org/omim/186600|UMLS:C1861302|MESH:C566085
MONDO:0008523	Blau syndrome	biolink:Disease	mondo	MedDRA:10071755|UMLS:C1836122|ICD9:714.89|MESH:C538157|ICD9:692.9|SCTID:699861000|OMIM:186580|Orphanet:90340|OMIM:609464|NCIT:C116794|GARD:0000304|Orphanet:90341|DOID:0050678|UMLS:C1861303	gard_rare|ordo_disease	EOS|Blau syndrome|Blau syndrome; BLAUS|granulomatosis, familial juvenile systemic|synovitis, granulomatous, with uveitis and cranial neuropathies|Jabs syndrome|arthrocutaneouveal granulomatosis|granulomatosis, familial, Blau type|sarcoidosis, early-onset|ACUG|BLAUS|granulomatous inflammatory arthritis, dermatitis, and uveitis, familial|pediatric granulomatous arthritis|synovitis granulomatous with uveitis and cranial neuropathies|early-onset sarcoidosis	http://purl.obolibrary.org/obo/MONDO_0008523	Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.	UMLS:C1836122|http://identifiers.org/omim/186580|MEDDRA:10071755|MESH:C538157|http://identifiers.org/omim/609464|UMLS:C1861303|ORPHA:90340|ORPHA:90341|SNOMEDCT:699861000|NCIT:C116794|DOID:0050678
MONDO:0008522	synovial chondromatosis, familial, with dwarfism	biolink:Disease	mondo	GARD:0007720|MESH:C566087|OMIM:186575|UMLS:C1861304	gard_rare	synovial chondromatosis, familial with dwarfism|synovial chondromatosis, familial, with dwarfism	http://purl.obolibrary.org/obo/MONDO_0008522		http://identifiers.org/omim/186575|MESH:C566087|UMLS:C1861304
MONDO:0008521	tarsal-carpal coalition syndrome	biolink:Disease	mondo	OMIM:186570|Orphanet:1412|GARD:0009225|ICD10:Q74.8|DOID:0050789|ICD9:756.9|EFO:0008965|UMLS:C1861305|SCTID:702312009	ordo_malformation_syndrome|gard_rare	TCC|tarsal carpal coalition syndrome|synostosis of talus and calcaneus with short stature|tarsal-carpal coalition syndrome|tarsal-carpal coalition syndrome; TCC	http://purl.obolibrary.org/obo/MONDO_0008521	Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges.	http://identifiers.org/omim/186570|UMLS:C1861305|ORPHA:1412|SNOMEDCT:702312009|DOID:0050789|MESH:C536943
MONDO:0008520	brachydactyly-elbow wrist dysplasia syndrome	biolink:Disease	mondo	ICD10:Q73.8|UMLS:C1861313|GARD:0000966|SCTID:764437006|MESH:C566090|OMIM:186550|Orphanet:1275	gard_rare|ordo_malformation_syndrome	brachydactyly-joint dysplasia syndrome|carpal synostosis with dysplastic elbow joints and brachydactyly|LBNBG|Liebenberg syndrome|LIEBENBERG syndrome; LBNBG|brachydactyly with Joint dysplasia|brachydactyly with joint dysplasia|synostosis, carpal, with dysplastic elbow joints and brachydactyly|brachydactyly elbow wrist dysplasia	http://purl.obolibrary.org/obo/MONDO_0008520	Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.	SNOMEDCT:764437006|http://identifiers.org/omim/186550|MESH:C566090|UMLS:C1861313|ORPHA:1275
UBERON:0005145	metanephric comma-shaped body	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005145	The metanephric comma-shaped body is the precursor structure to the metanephric S-shaped body that contributes to the morphogenesis of a nephron in the metanephros[GO].	
HGNC:3571	ACSL4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3571		
UBERON:0005144	metanephric glomerular capillary	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005144	This process pertains to the initial formation of a structure from unspecified parts[GO].	
HGNC:18603	COL25A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18603		
HGNC:18601	RTN4R	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18601		
HGNC:3579	FAH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3579		
UBERON:0005148	metanephric S-shaped body	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005148	The metanephric S-shaped body is the successor of the metanephric comma-shaped body that contributes to the morphogenesis of a nephron in the metanephros[GO].	
UBERON:0005147	metanephric renal vesicle	biolink:AnatomicalEntity	mondo			metanephric vesicle	http://purl.obolibrary.org/obo/UBERON_0005147	The renal vesicle is the primordial structure of the metanephric nephron epithelium, and is formed by the condensation of mesenchymal cells[GO].	
HGNC:3573	FADD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3573		
UBERON:0005146	metanephric nephron tubule	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005146	A metanephric nephron tubule is an epithelial tube that is part of the metanephric nephron, the functional part of the metanephros[GO].	
NCBITaxon:5125	Hypocreales	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_5125		
HGNC:3583	FANCB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3583		
UBERON:0005134	metanephric nephron epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005134	The metanephric nephron epithelium is a tissue that covers the surface of a nephron in the metanephros[GO].	
HGNC:3582	FANCA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3582		
UBERON:0007798	vascular system	biolink:AnatomicalEntity	mondo			Gefaesssystem@de	http://purl.obolibrary.org/obo/UBERON_0007798	Anatomical system that consists of all blood and lymph vessels.	
UBERON:0005133	metanephric glomerulus vasculature	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005133	The metanephric glomerulus vasculature is composed of the tubule structures that carry blood or lymph in the metanephric glomerulus[GO].	
HGNC:3581	BPTF	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3581		
UBERON:0005130	metanephric loop of Henle	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005130	The metanephric loop of Henle is a metanephric nephron tubule that connects the proximal convoluted tubule to the distal convoluted tubule in the metanephros[GO].	
HGNC:3588	FANCG	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3588		
HGNC:3587	FANCF	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3587		
HGNC:3586	FANCE	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3586		
UBERON:0007794	secretion of serous gland	biolink:AnatomicalEntity	mondo			serous gland fluid|serosal fluid|serous fluid	http://purl.obolibrary.org/obo/UBERON_0007794	Any fluid produced by a serous gland.	
UBERON:0005137	metanephric capsule	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005137	The metanephric capsule is the tough fibrous layer surrounding the metanephros, covered in a thick layer of perinephric adipose tissue. It provides some protection from trauma and damage[GO].	
UBERON:0005136	metanephric glomerular endothelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005136	The metanephric glomerular endothelium is an epithelial tissue that covers the internal surfaces of the glomerulus of the metanephros[GO].	
HGNC:3585	FANCD2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3585		
HGNC:3584	FANCC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3584		
UBERON:0005135	metanephric glomerular epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005135	A metanephric glomerular visceral epithelial cell is a specialized epithelial cell that contains 'feet' that interdigitate with the 'feet' of other glomerular epithelial cells in the metanephros[GO].	
MONDO:0008509	distal symphalangism (disease)	biolink:Disease	mondo	OMIM:185700|Orphanet:3248|UMLS:C1861401|MESH:C566099|HP:0100263|ICD10:Q70.9	ordo_morphological_anomaly	symphalangism, distal|distal symphalangism|Sym2	http://purl.obolibrary.org/obo/MONDO_0008509	Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet.	http://identifiers.org/omim/185700|MESH:C566099|UMLS:C1861401|ORPHA:3248
MONDO:0008508	symphalangism, C. S. Lewis type	biolink:Disease	mondo	MESH:C566100|UMLS:C1861404|OMIM:185650	n_of_one	symphalangism, C. S. Lewis type|thumbs, stiff	http://purl.obolibrary.org/obo/MONDO_0008508		MESH:C566100|UMLS:C1861404|http://identifiers.org/omim/185650
MONDO:0008507	surface polypeptides, anonymous	biolink:Disease	mondo	OMIM:185610		Spa5|Spa2|surface polypeptides, anonymous	http://purl.obolibrary.org/obo/MONDO_0008507		http://identifiers.org/omim/185610
MONDO:0008506	symphalangism of toes	biolink:Disease	mondo	MESH:C566101|OMIM:185600|UMLS:C1861418		symphalangism of toes	http://purl.obolibrary.org/obo/MONDO_0008506		MESH:C566101|UMLS:C1861418|http://identifiers.org/omim/185600
MONDO:0008505	surface antigen, glycoprotein 75	biolink:Disease	mondo	OMIM:185540		surface antigen, glycoprotein type 75|surface glycoprotein 75|surface antigen, glycoprotein 75	http://purl.obolibrary.org/obo/MONDO_0008505		http://identifiers.org/omim/185540
MONDO:0008504	supravalvular aortic stenosis (disease)	biolink:Disease	mondo	HP:0004381|OMIM:185500|DOID:1929|SCTID:268185002|MedDRA:10042598|UMLS:C0003499|ICD10:Q25.3|GARD:0000743|Orphanet:3193	ordo_morphological_anomaly	SVAS|supravalvular aortic stenosis; SVAS|supra-valvular aortic stenosis|supravalvar aortic stenosis, Eisenberg type|supravalvular aortic stenosis|aortic supravalvular stenosis	http://purl.obolibrary.org/obo/MONDO_0008504	SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis.	SNOMEDCT:268185002|NCIT:C85176|DOID:1929|UMLS:C1305147|ORPHA:3193|MESH:D021921|MEDDRA:10042598|UMLS:C0003499|http://identifiers.org/omim/185500
MONDO:0008503	Worster-Drought syndrome	biolink:Disease	mondo	GARD:0005598|UMLS:C0796204|SCTID:716335003|Orphanet:3465|MESH:C536747|OMIM:185480|ICD10:G80.8	ordo_malformation_syndrome|gard_rare	suprabulbar paresis congenital|suprabulbar paresis, congenital|Worster Drought syndrome|Worster-Drought syndrome|congenital suprabulbar paresis	http://purl.obolibrary.org/obo/MONDO_0008503	Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking.	MESH:C536747|UMLS:C0796204|http://identifiers.org/omim/185480|ORPHA:3465|SNOMEDCT:716335003
MONDO:0008502	sulfhemoglobinemia, congenital	biolink:Disease	mondo	MESH:C566102|UMLS:C1861437|OMIM:185460		sulfhemoglobinemia, congenital	http://purl.obolibrary.org/obo/MONDO_0008502		http://identifiers.org/omim/185460|MESH:C566102|UMLS:C1861437
MONDO:0008501	Sturge-Weber syndrome	biolink:Disease	mondo	SCTID:19886006|OMIM:185300|UMLS:CN204001|NCIT:C3391|DOID:0111563|MedDRA:10042265|MedDRA:10057653|MESH:D013341|Orphanet:3205|ICD9:759.6|GARD:0007706|ICD10:Q85.8|UMLS:C0038505	gard_rare|ordo_malformation_syndrome	Sturge-Weber syndrome|Sturge-Weber-Dimitri syndrome|meningeal capillary angiomatosis|Encephalotrigeminal syndrome|Sturge-Weber disease|Encephalofacial angiomatosis|SWS type III - isolated leptomeningeal angiomas|Sturge Weber syndrome|STURGE-WEBER syndrome; SWS|SWS|SWS type II - Facial angioma alone, no CNS involvement|fourth phacomatosis|Encephalotrigeminal angiomatosis|SWS type I - Facial and leptomeningeal angiomas|Sturge-Weber-Krabbe syndrome|Sturge-Weber-Krabbe angiomatosis|leptomeningeal angiomatosis	http://purl.obolibrary.org/obo/MONDO_0008501	Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.	UMLS:C0038505|DOID:0111563|UMLS:CN204001|MEDDRA:10057653|MEDDRA:10042265|NCIT:C3391|ORPHA:3205|http://identifiers.org/omim/185300|SNOMEDCT:19886006|MESH:D013341
MONDO:0008500	striae distensae, familial	biolink:Disease	mondo	MESH:C566104|UMLS:C1861447|OMIM:185200		striae distensae, familial	http://purl.obolibrary.org/obo/MONDO_0008500		http://identifiers.org/omim/185200|MESH:C566104|UMLS:C1861447
HP:0003498	Disproportionate short stature	biolink:PhenotypicFeature	mondo	UMLS:C0878659|UMLS:C1846797		Short stature, disproportionate|Short stature, severe disproportionate	http://purl.obolibrary.org/obo/HP_0003498	A kind of short stature in which different regions of the body are shortened to differing extents.	
UBERON:0005129	metanephric distal tubule	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005129	The metanephric distal tubule is a metanephric nephron tubule that begins at the metanephric macula densa and extends to the metanephric connecting tubule[GO].	
HP:0003496	Increased circulating IgM level	biolink:PhenotypicFeature	mondo	UMLS:C1839972		Increased IgM levels|Increased levels of IgM	http://purl.obolibrary.org/obo/HP_0003496	An abnormally increased level of immunoglobulin M in blood.	
UBERON:0005125	metanephric proximal straight tubule	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005125	The metanephric proximal straight tubule is the part of the metanephric descending limb that extends from the metanephric proximal convoluted tubule to the metanephric descending thin tubule[GO].	
UBERON:0005124	metanephric proximal convoluted tubule	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005124	The metanephric proximal convoluted tubule is the most proximal portion of the metanephric proximal tubule and extends from the metanephric glomerular capsule to the metanephric proximal straight tubule[GO].	
GO:0016108	tetraterpenoid metabolic process	biolink:OntologyClass	mondo			tetraterpene metabolic process|tetraterpene metabolism|tetraterpenoid metabolism	http://purl.obolibrary.org/obo/GO_0016108	The chemical reactions and pathways involving tetraterpenoid compounds, terpenoids with eight isoprene units.	
GO:0016101	diterpenoid metabolic process	biolink:OntologyClass	mondo			diterpene metabolic process|diterpenoid metabolism|diterpene metabolism	http://purl.obolibrary.org/obo/GO_0016101	The chemical reactions and pathways involving diterpenoid compounds, terpenoids with four isoprene units.	
GO:0006796	phosphate-containing compound metabolic process	biolink:OntologyClass	mondo			phosphate metabolic process|phosphate metabolism	http://purl.obolibrary.org/obo/GO_0006796	The chemical reactions and pathways involving the phosphate group, the anion or salt of any phosphoric acid.	
GO:0006793	phosphorus metabolic process	biolink:OntologyClass	mondo			phosphorus metabolism	http://purl.obolibrary.org/obo/GO_0006793	The chemical reactions and pathways involving the nonmetallic element phosphorus or compounds that contain phosphorus, usually in the form of a phosphate group (PO4).	
GO:0006790	sulfur compound metabolic process	biolink:OntologyClass	mondo			sulphur metabolism|sulphur metabolic process|sulfur metabolism	http://purl.obolibrary.org/obo/GO_0006790	The chemical reactions and pathways involving the nonmetallic element sulfur or compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione.	
GO:0016116	carotenoid metabolic process	biolink:OntologyClass	mondo			carotenoid metabolism	http://purl.obolibrary.org/obo/GO_0016116	The chemical reactions and pathways involving carotenoids, tetraterpenoid compounds in which two units of 4 isoprenoid residues joined head-to-tail are themselves joined tail-to-tail.	
GO:0006768	biotin metabolic process	biolink:OntologyClass	mondo			vitamin H metabolism|vitamin H metabolic process|biotin metabolism|vitamin B7 metabolic process|vitamin B7 metabolism	http://purl.obolibrary.org/obo/GO_0006768	The chemical reactions and pathways involving biotin, cis-tetrahydro-2-oxothieno(3,4-d)imidazoline-4-valeric acid; the (+) enantiomer is very widely distributed in cells and serves as a carrier in a number of enzymatic beta-carboxylation reactions.	
GO:0006766	vitamin metabolic process	biolink:OntologyClass	mondo			vitamin metabolism	http://purl.obolibrary.org/obo/GO_0006766	The chemical reactions and pathways involving vitamins. Vitamin is a general term for a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. Vitamins may be water-soluble or fat-soluble and usually serve as components of coenzyme systems.	
GO:0006767	water-soluble vitamin metabolic process	biolink:OntologyClass	mondo			water-soluble vitamin metabolism	http://purl.obolibrary.org/obo/GO_0006767	The chemical reactions and pathways involving any of a diverse group of vitamins that are soluble in water.	
GO:0006760	folic acid-containing compound metabolic process	biolink:OntologyClass	mondo			folate-containing compound metabolic process|vitamin B9 and derivative metabolism|vitamin B9 and derivative metabolic process|folate-containing compound metabolism|folic acid-containing compound metabolism|folic acid and derivative metabolism|folate and derivative metabolism|vitamin M and derivative metabolism|folate and derivative metabolic process|vitamin M and derivative metabolic process|folic acid and derivative metabolic process	http://purl.obolibrary.org/obo/GO_0006760	The chemical reactions and pathways involving a folic acid-containing compound, i.e. any of a group of heterocyclic compounds based on the pteroic acid skeleton conjugated with one or more L-glutamic acid or L-glutamate units.	
GO:0090022	regulation of neutrophil chemotaxis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0090022	Any process that modulates the frequency, rate, or extent of neutrophil chemotaxis. Neutrophil chemotaxis is the directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding.	
GO:0090023	positive regulation of neutrophil chemotaxis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0090023	Any process that increases the frequency, rate, or extent of neutrophil chemotaxis. Neutrophil chemotaxis is the directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding.	
GO:0090024	negative regulation of neutrophil chemotaxis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0090024	Any process that decreases the frequency, rate, or extent of neutrophil chemotaxis. Neutrophil chemotaxis is the directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding.	
GO:0006778	porphyrin-containing compound metabolic process	biolink:OntologyClass	mondo			porphyrin metabolism|porphyrin metabolic process	http://purl.obolibrary.org/obo/GO_0006778	The chemical reactions and pathways involving any member of a large group of derivatives or analogs of porphyrin. Porphyrins consists of a ring of four pyrrole nuclei linked each to the next at their alpha positions through a methine group.	
GO:0090030	regulation of steroid hormone biosynthetic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0090030	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroid hormones,compounds with a 1, 2, cyclopentanoperhydrophenanthrene nucleus that act as hormones.	
GO:0006775	fat-soluble vitamin metabolic process	biolink:OntologyClass	mondo			fat-soluble vitamin metabolism	http://purl.obolibrary.org/obo/GO_0006775	The chemical reactions and pathways involving of any of a diverse group of vitamins that are soluble in organic solvents and relatively insoluble in water.	
GO:0006776	vitamin A metabolic process	biolink:OntologyClass	mondo			vitamin A metabolism	http://purl.obolibrary.org/obo/GO_0006776	The chemical reactions and pathways involving any of the vitamin A compounds, retinol, retinal (retinaldehyde) and retinoic acid, all of which are derivatives of beta-carotene.	
GO:0090031	positive regulation of steroid hormone biosynthetic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0090031	Any process that increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroid hormones,compounds with a 1, 2, cyclopentanoperhydrophenanthrene nucleus that act as hormones.	
GO:0090032	negative regulation of steroid hormone biosynthetic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0090032	Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroid hormones,compounds with a 1, 2, cyclopentanoperhydrophenanthrene nucleus that act as hormones.	
GO:0006749	glutathione metabolic process	biolink:OntologyClass	mondo			glutathione metabolism|oxidized glutathione reduction	http://purl.obolibrary.org/obo/GO_0006749	The chemical reactions and pathways involving glutathione, the tripeptide glutamylcysteinylglycine, which acts as a coenzyme for some enzymes and as an antioxidant in the protection of sulfhydryl groups in enzymes and other proteins; it has a specific role in the reduction of hydrogen peroxide (H2O2) and oxidized ascorbate, and it participates in the gamma-glutamyl cycle.	
GO:0006744	ubiquinone biosynthetic process	biolink:OntologyClass	mondo			coenzyme Q8 biosynthetic process|coenzyme Q8 biosynthesis|coenzyme Q9 biosynthetic process|coenzyme Q10 biosynthesis|ubiquinone synthesis|coenzyme Q9 biosynthesis|coenzyme Q10 biosynthetic process|ubiquinone formation|coenzyme Q biosynthetic process|coenzyme Q biosynthesis|ubiquinone biosynthesis|ubiquinone anabolism|coenzyme Q6 biosynthesis|coenzyme Q6 biosynthetic process	http://purl.obolibrary.org/obo/GO_0006744	The chemical reactions and pathways resulting in the formation of ubiquinone, a lipid-soluble electron-transporting coenzyme.	
GO:0006743	ubiquinone metabolic process	biolink:OntologyClass	mondo			coenzyme Q metabolic process|coenzyme Q metabolism|ubiquinone metabolism	http://purl.obolibrary.org/obo/GO_0006743	The chemical reactions and pathways involving ubiquinone, a lipid-soluble electron-transporting coenzyme.	
UBERON:0007728	interphalangeal joint of pedal digit 5	biolink:AnatomicalEntity	mondo			interphalangeal joint of fifth toe|interphalangeal joint of pedal digit V|interphalangeal joint of fifth digit of foot|interphalangeal joint of little toe	http://purl.obolibrary.org/obo/UBERON_0007728	An interphalangeal joint of pes that is part of a pedal digit 5.	
HP:0003429	CNS hypomyelination	biolink:PhenotypicFeature	mondo	UMLS:C0544820|UMLS:C4025616|SNOMEDCT_US:111007000		hypomyelination	http://purl.obolibrary.org/obo/HP_0003429	Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.	
UBERON:0007732	interphalangeal joint of manual digit 5	biolink:AnatomicalEntity	mondo			interphalangeal joint of fifth digit of hand|interphalangeal joint of manual digit V|interphalangeal joint of little finger|interphalangeal joint of fifth finger	http://purl.obolibrary.org/obo/UBERON_0007732	An interphalangeal joint of manus that is part of a manual digit 5.	
UBERON:0007735	metacarpophalangeal joint of manual digit 1	biolink:AnatomicalEntity	mondo			metacarpo-phalangeal joint of digit 1 of fore-paw|metacarpophalangeal joint of manual digit I|metacarpophalangeal joint of digit 1|metacarpophalangeal joint of thumb|metacarpophalangeal joint of first digit of hand	http://purl.obolibrary.org/obo/UBERON_0007735	A skeletal joint that connects a metacarpal bone and connects a proximal phalanx of manual digit 1.	
GO:0090087	regulation of peptide transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0090087	Any process that modulates the frequency, rate or extent of the directed movement of peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
GO:0006757	ATP generation from ADP	biolink:OntologyClass	mondo			ADP phosphorylation	http://purl.obolibrary.org/obo/GO_0006757	The process of introducing a phosphate group into ADP, adenosine diphosphate, to produce ATP.	
GO:0006753	nucleoside phosphate metabolic process	biolink:OntologyClass	mondo			nucleoside phosphate metabolism	http://purl.obolibrary.org/obo/GO_0006753	The chemical reactions and pathways involving any phosphorylated nucleoside.	
GO:0006754	ATP biosynthetic process	biolink:OntologyClass	mondo			ATP anabolism|ATP regeneration|ATP synthesis|ATP biosynthesis|ATP formation	http://purl.obolibrary.org/obo/GO_0006754	The chemical reactions and pathways resulting in the formation of ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.	
UBERON:0007719	bone of reproductive organ	biolink:AnatomicalEntity	mondo			baculum|os penis/os clitoris	http://purl.obolibrary.org/obo/UBERON_0007719	A bone that is part of a reproductive organ.	
GO:0006750	glutathione biosynthetic process	biolink:OntologyClass	mondo			glutathione synthesis|glutathione formation|glutathione biosynthesis|glutathione anabolism	http://purl.obolibrary.org/obo/GO_0006750	The chemical reactions and pathways resulting in the formation of glutathione, the tripeptide glutamylcysteinylglycine, which acts as a coenzyme for some enzymes and as an antioxidant in the protection of sulfhydryl groups in enzymes and other proteins.	
UBERON:0007721	interphalangeal joint of pes	biolink:AnatomicalEntity	mondo			interphalangeal joint of foot|toe joint|hindlimb digit inter-phalangeal joint|foot interphalangeal joint|interphalangeal joint of toe	http://purl.obolibrary.org/obo/UBERON_0007721	The interphalangeal articulations of the foot (articulations of the phalanges) are ginglymoid joints, and each has a plantar and two collateral ligaments. The arrangement of these ligaments is similar to that in the metatarsophalangeal articulations: the Extensor tendons supply the places of dorsal ligaments.	
CHEBI:32594	barium atom	biolink:ChemicalSubstance	mondo			barium|56Ba|Ba|baryum|barium|Barium|bario	http://purl.obolibrary.org/obo/CHEBI_32594		
UBERON:0007722	interphalangeal joint of manus	biolink:AnatomicalEntity	mondo			interphalangeal joint of hand|interphalangeal joints of hand|interphalangeal joint of finger|articulationes interphalangeae manus|articulationes digitorum manus|IP joint|articulations of the digits|interphalangeal articulations of hand	http://purl.obolibrary.org/obo/UBERON_0007722	The interphalangeal articulations of hand are hinge-joints of the phalanges of the hand. There are two sets (except in the thumb): 'proximal interphalangeal joints' (PIP), those between the first (also called proximal) and second (intermediate) phalanges 'distal interphalangeal joints' (DIP), those between the second and third (distal) phalanges A similar group of articulations also function in the toes.	
UBERON:0007723	interphalangeal joint of manual digit 1	biolink:AnatomicalEntity	mondo			interphalangeal joint of hand digit 1|interphalangeal joint of thumb|interphalangeal joint of manual digit I|interphalangeal joint of first digit of hand|interphalangeal joint of manual digit 1|interphalangeal joint of pollex	http://purl.obolibrary.org/obo/UBERON_0007723	An interphalangeal joint of manus that is part of a manual digit 1.	
UBERON:0007724	interphalangeal joint of pedal digit 1	biolink:AnatomicalEntity	mondo			interphalangeal joint of pedal digit I|interphalangeal joint of big toe|interphalangeal joint of foot digit 1|interphalangeal joint of hallux|interphalangeal joint of first digit of pes|interphalangeal joint of pedal digit 1|interphalangeal joint of great toe|interphalangeal joint of first toe|interphalangeal joint of first digit of foot	http://purl.obolibrary.org/obo/UBERON_0007724	An interphalangeal joint of pes that is part of a pedal digit 1.	
GO:0006725	cellular aromatic compound metabolic process	biolink:OntologyClass	mondo			aromatic compound metabolism|aromatic hydrocarbon metabolism|aromatic hydrocarbon metabolic process	http://purl.obolibrary.org/obo/GO_0006725	The chemical reactions and pathways involving aromatic compounds, any organic compound characterized by one or more planar rings, each of which contains conjugated double bonds and delocalized pi electrons, as carried out by individual cells.	
GO:0006720	isoprenoid metabolic process	biolink:OntologyClass	mondo			polyterpene metabolic process|polyisoprenoid metabolism|isoprenoid metabolism|polyisoprenoid metabolic process|polyterpene metabolism	http://purl.obolibrary.org/obo/GO_0006720	The chemical reactions and pathways involving isoprenoid compounds, isoprene (2-methylbuta-1,3-diene) or compounds containing or derived from linked isoprene (3-methyl-2-butenylene) residues.	
GO:0006721	terpenoid metabolic process	biolink:OntologyClass	mondo			terpenoid metabolism	http://purl.obolibrary.org/obo/GO_0006721	The chemical reactions and pathways involving terpenoids, any member of a class of compounds characterized by an isoprenoid chemical structure and including derivatives with various functional groups.	
HP:0003401	Paresthesia	biolink:PhenotypicFeature	mondo	UMLS:C0030554|SNOMEDCT_US:91019004|MSH:D010292		Pins and needles feeling|Tingling|Paresthesias	http://purl.obolibrary.org/obo/HP_0003401	Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.	
GO:0090066	regulation of anatomical structure size	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0090066	Any process that modulates the size of an anatomical structure.	
GO:0090068	positive regulation of cell cycle process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0090068	Any process that increases the rate, frequency or extent of a cellular process that is involved in the progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events.	
HGNC:3508	EWSR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3508		
GO:0006733	obsolete oxidoreduction coenzyme metabolic process	biolink:OntologyClass	mondo			oxidoreduction coenzyme metabolism	http://purl.obolibrary.org/obo/GO_0006733	OBSOLETE. The chemical reactions and pathways involving coenzymes that are required, in addition to an enzyme and a substrate, for an oxidoreductase reaction to proceed.	
GO:0006732	obsolete coenzyme metabolic process	biolink:OntologyClass	mondo			group transfer coenzyme metabolic process|coenzyme and prosthetic group metabolic process|coenzyme and prosthetic group metabolism|group transfer coenzyme metabolism|coenzyme metabolism	http://purl.obolibrary.org/obo/GO_0006732	OBSOLETE. The chemical reactions and pathways involving coenzymes, any of various nonprotein organic cofactors that are required, in addition to an enzyme and a substrate, for an enzymatic reaction to proceed.	
HP:0003418	Back pain	biolink:PhenotypicFeature	mondo	UMLS:C0004604|SNOMEDCT_US:161891005|MSH:D001416		Back pain	http://purl.obolibrary.org/obo/HP_0003418	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.	
UBERON:0007702	tract of brain	biolink:AnatomicalEntity	mondo			brain tract|landmark tracts	http://purl.obolibrary.org/obo/UBERON_0007702	An axon tract that is part of a brain.	
HGNC:3513	EXT2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3513		
HGNC:3512	EXT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3512		
MONDO:0021373	neoplasm of parietal lobe	biolink:Disease	mondo	NCIT:C5573|SCTID:126956001|UMLS:C1263888		tumor of parietal lobe|parietal lobe neoplasm (disease)|tumor of the parietal lobe|parietal lobe tumor|neoplasm of parietal lobe|parietal lobe neoplasm|neoplasm of the parietal lobe	http://purl.obolibrary.org/obo/MONDO_0021373	A neoplasm (disease) that involves the parietal lobe.	UMLS:C1263888|SNOMEDCT:126956001|NCIT:C5573
MONDO:0021374	neoplasm of cerebral hemisphere	biolink:Disease	mondo	SCTID:126953009|NCIT:C4874		cerebral hemisphere neoplasm|tumor of cerebral hemisphere|cerebral hemispheric tumor|cerebral neoplasm|tumor of cerebrum|tumor of cerebral hemispheres|tumor of the cerebrum|tumor of the cerebral hemispheres|neoplasm of telencephalon|telencephalon tumor|telencephalon neoplasm (disease)|neoplasm of cerebral hemisphere|cerebral hemisphere tumor|cerebral tumor|cerebral hemispheric neoplasm|neoplasm of cerebrum|neoplasm of cerebral hemispheres|neoplasm of the cerebral hemispheres|cerebral neoplasms|neoplasm of the cerebrum|tumor of telencephalon	http://purl.obolibrary.org/obo/MONDO_0021374	A neoplasm involving a cerebral hemisphere.	NCIT:C4874|SNOMEDCT:126953009
MONDO:0021375	tumor of duodenum	biolink:Disease	mondo	NCIT:C2995|SCTID:126833009		tumor of duodenum|duodenum neoplasm|duodenal tumor|duodenal neoplasm|neoplasm of the duodenum|duodenum neoplasm (disease)|neoplasm of duodenum|duodenum tumor|tumor of the duodenum|duodenal neoplasm	http://purl.obolibrary.org/obo/MONDO_0021375	A neoplasm (disease) that involves the duodenum.	NCIT:C2995|SNOMEDCT:126833009
MONDO:0021376		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021376		
MONDO:0021377	hypertrophic lichen planus	biolink:Disease	mondo	UMLS:C0023649|SCTID:68266006|NCIT:C34779		Hypertrophic Lichen Planus|Hypertrophic lichen planus|hypertrophic lichen planus|lichen planus hypertrophicus|Lichen planus hypertrophicus	http://purl.obolibrary.org/obo/MONDO_0021377	A form of lichen planus that is characterized by plaques of markedly thickened skin that is often extremely pruritic and localized to the lower legs. It can result in permanent pigmentation and scarring.	NCIT:C34779|SNOMEDCT:68266006|UMLS:C0023649
MONDO:0021378	neoplasm of endocardium	biolink:Disease	mondo	NCIT:C5346|SCTID:126731002|ICD9:239.89|UMLS:C1290401		endocardium neoplasm (disease)|endocardial neoplasm|tumor of the endocardium|neoplasm of endocardium|endocardium tumor|endocardium neoplasm|endocardial tumor|tumor of endocardium|neoplasm of the endocardium	http://purl.obolibrary.org/obo/MONDO_0021378	A neoplasm (disease) that involves the endocardium.	NCIT:C5346|UMLS:C1290401|SNOMEDCT:126731002
MONDO:0021379	neoplasm of epicardium	biolink:Disease	mondo	NCIT:C5347|SCTID:126733004|ICD9:239.89|UMLS:C1290403		epicardium tumor|tumor of the epicardium|epicardium neoplasm (disease)|tumor of epicardium|epicardial tumor|neoplasm of the epicardium|epicardial neoplasm|neoplasm of epicardium|epicardium neoplasm	http://purl.obolibrary.org/obo/MONDO_0021379	A neoplasm (disease) that involves the epicardium.	SNOMEDCT:126733004|NCIT:C5347|UMLS:C1290403
MONDO:0008399	sarcoidosis, susceptibility to, 1	biolink:Disease	mondo	OMIM:181000|ICD9:135	predisposition	sarcoidosis, susceptibility to, type 1|susceptibility to sarcoidosis 1|sarcoidosis, susceptibility to, 1|sarcoidosis|HLA-DRB1 sarcoidosis|sarcoidosis, susceptibility to, 1; SS1|SS1|sarcoidosis caused by mutation in HLA-DRB1|Boeck sarcoid	http://purl.obolibrary.org/obo/MONDO_0008399	Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene.	http://identifiers.org/omim/181000
MONDO:0021370	neoplasm of minor salivary gland	biolink:Disease	mondo	NCIT:C4409|SCTID:126798006|UMLS:C0345613		minor salivary gland neoplasm|neoplasm of minor salivary gland|tumor of minor salivary gland|neoplasm of the minor salivary gland|minor salivary gland neoplasm (disease)|minor salivary gland tumor|tumor of the minor salivary gland	http://purl.obolibrary.org/obo/MONDO_0021370	A neoplasm (disease) that involves the minor salivary gland.	NCIT:C4409|SNOMEDCT:126798006|UMLS:C0345613
MONDO:0008398	salivary substance, Clostridium botulinum type	biolink:Disease	mondo	UMLS:C1867056|OMIM:180950		salivary substance, Clostridium botulinum type	http://purl.obolibrary.org/obo/MONDO_0008398		UMLS:C1867056|http://identifiers.org/omim/180950
MONDO:0008397	aplasia of lacrimal and salivary glands	biolink:Disease	mondo	SCTID:715656004|ICD10:Q38.4|OMIM:180920|ICD10:Q10.4|DOID:0111549|Orphanet:86815	ordo_disease	aplasia of lacrimal and salivary glands|ALSG|parotid aplasia or hypoplasia|congenital absence of lacrimal puncta and salivary glands|salivary glands, absence of, include|salivary glands, absence of|aplasia of lacrimal and salivary glands; ALSG	http://purl.obolibrary.org/obo/MONDO_0008397	Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation.	ORPHA:86815|DOID:0111549|http://identifiers.org/omim/180920|SNOMEDCT:715656004
MONDO:0008396	oculodental syndrome, Rutherfurd type	biolink:Disease	mondo	SCTID:699754008|Orphanet:2709|MESH:C537732|ICD10:Q87.8|GARD:0000212|ICD9:759.89|OMIM:180900|UMLS:C0796140	gard_rare|ordo_malformation_syndrome	corneal dystrophy with gum hypertrophy|gingival Hypertrophy with corneal dystrophy|corneal dystrophy with gum Hypertrophy|gingival hypertrophy corneal dystrophy|Rutherfurd syndrome|gingival hypertrophy-corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0008396	Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait.	UMLS:C0796140|ORPHA:2709|MESH:C537732|SNOMEDCT:699754008|http://identifiers.org/omim/180900
MONDO:0021372	neoplasm of temporal lobe	biolink:Disease	mondo	UMLS:C1263887|SCTID:126955002|NCIT:C5567		neoplasm of the temporal lobe|tumor of temporal lobe|temporal lobe neoplasm (disease)|temporal lobe neoplasm|neoplasm of temporal lobe|tumor of the temporal lobe|temporal lobe tumor	http://purl.obolibrary.org/obo/MONDO_0021372	A neoplasm (disease) that involves the temporal lobe.	UMLS:C1263887|NCIT:C5567|SNOMEDCT:126955002
GO:0090206	negative regulation of cholesterol metabolic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0090206	Any process that decreases the rate, frequency, or extent of cholesterol metabolism, the chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones.	
MONDO:0033362	developmental and epileptic encephalopathy, 53	biolink:Disease	mondo	DOID:0080464|OMIM:617389|UMLS:C4479313		DEE53|EIEE53|epileptic encephalopathy, early infantile, 53; EIEE53|epileptic encephalopathy, early infantile, 53	http://purl.obolibrary.org/obo/MONDO_0033362		http://identifiers.org/omim/617389|UMLS:C4479313|DOID:0080464
MONDO:0008395	Ruvalcaba syndrome	biolink:Disease	mondo	UMLS:C0265248|GARD:0004748|ICD10:Q87.8|OMIM:180870|SCTID:3073006|Orphanet:3121|ICD9:759.89|MESH:C579395	ordo_malformation_syndrome|gard_rare	Ruvalcaba syndrome	http://purl.obolibrary.org/obo/MONDO_0008395	Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay.	ORPHA:3121|MESH:C579395|UMLS:C0265248|SNOMEDCT:3073006|http://identifiers.org/omim/180870
MONDO:0033361	developmental and epileptic encephalopathy, 52	biolink:Disease	mondo	UMLS:C4479236|OMIM:617350|DOID:0080455		epileptic encephalopathy, early infantile, 52; EIEE52|epileptic encephalopathy, early infantile, 52|EIEE52|DEE52	http://purl.obolibrary.org/obo/MONDO_0033361		http://identifiers.org/omim/617350|UMLS:C4479236|DOID:0080455
MONDO:0008394	Silver-Russell syndrome	biolink:Disease	mondo	ICD10:Q87.1|GARD:0004870|SCTID:15069006|UMLS:C0175693|DOID:14681|MedDRA:10062282|Orphanet:813|NCIT:C85068|MESH:D056730|ICD9:759.89|OMIMPS:180860	ordo_disease	Silver Russell syndrome|Silver-Russell dwarfism|Silver-Russell syndrome; SRS|Russell-Silver dwarfism|Silver Russell dwarfism|SRS|Russell-Silver syndrome|Silver-Russell syndrome|Russell Silver syndrome	http://purl.obolibrary.org/obo/MONDO_0008394	Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry.	MESH:D056730|UMLS:C0175693|DOID:14681|ORPHA:813|MEDDRA:10062282|NCIT:C85068|SNOMEDCT:15069006
MONDO:0008393	Rubinstein-Taybi syndrome due to CREBBP mutations	biolink:Disease	mondo	Orphanet:353277|NCIT:C153290|OMIM:180849|ICD10:Q87.2	ordo_clinical_subtype	broad thumbs and great toes, characteristic facies, and mental retardation|RSTS1|broad thumb-hallux syndrome|CREBBP Rubinstein-Taybi syndrome|RSTS|Rubinstein-Taybi syndrome type 1|Rubinstein syndrome|Rubinstein-Taybi syndrome caused by mutation in CREBBP|Rubinstein-Taybi syndrome 1; RSTS1|broad thumbs and great toes, characteristic facies, and intellectual disability|Rubinstein-Taybi syndrome 1	http://purl.obolibrary.org/obo/MONDO_0008393	Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene.	http://identifiers.org/omim/180849|ORPHA:353277|NCIT:C153290
MONDO:0008392	Roussy-Levy syndrome	biolink:Disease	mondo	ICD10:G60.0|SCTID:45853006|ICD9:334.3|Orphanet:3115|GARD:0004741|OMIM:180800	ordo_disease	Roussy levy hereditary areflexic dystasia|HMSN I|Roussy-levy syndrome|hereditary areflexic dystasia, Roussy-levy type|Roussy levy syndrome|hereditary motor sensory neuropathy I|hereditary areflexic dystasia, Roussy-Lévy type|Roussy-levy disease|Roussy-levy hereditary areflexic dystasia|Charcot-Marie-Tooth disease (variant)|Roussy-Lévy syndrome|Charcot-Marie-Tooth-Roussy-levy disease|hereditary areflexic dystasia	http://purl.obolibrary.org/obo/MONDO_0008392		SNOMEDCT:45853006|UMLS:C0205713|http://identifiers.org/omim/180800|ORPHA:3115
GO:0090205	positive regulation of cholesterol metabolic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0090205	Any process that increases the rate, frequency, or extent of cholesterol metabolism, the chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones.	
MONDO:0008391	Robinow-Sorauf syndrome	biolink:Disease	mondo	MESH:C537183|Orphanet:3106|UMLS:CN203672|OMIM:180750|UMLS:C1867146		acrocephalosyndactyly, Robinow-Sorauf type|Robinow-Sorauf syndrome|craniosynostosis-bifid hallux syndrome	http://purl.obolibrary.org/obo/MONDO_0008391		UMLS:CN203672|MESH:C537183|UMLS:C1867146|http://identifiers.org/omim/180750|ORPHA:3106
MONDO:0008390	Rombo syndrome	biolink:Disease	mondo	GARD:0004738|OMIM:180730|MESH:C535870|ICD10:L98.8|SCTID:721904001|Orphanet:3110|UMLS:C1867147	gard_rare|ordo_disease	Rombo syndrome|vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis	http://purl.obolibrary.org/obo/MONDO_0008390	Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas.	UMLS:C1867147|MESH:C535870|SNOMEDCT:721904001|http://identifiers.org/omim/180730|ORPHA:3110
MONDO:0033369	developmental and epileptic encephalopathy, 60	biolink:Disease	mondo	DOID:0080432|UMLS:CN244549|OMIM:617929		epileptic encephalopathy, early infantile, 60|epileptic encephalopathy, early infantile, 60; EIEE60|EIEE60|DEE60	http://purl.obolibrary.org/obo/MONDO_0033369		DOID:0080432|http://identifiers.org/omim/617929|UMLS:CN244549
MONDO:0033368	developmental and epileptic encephalopathy, 59	biolink:Disease	mondo	OMIM:617904|DOID:0080291|UMLS:CN870853		epileptic encephalopathy, early infantile, 59|DEE59|epileptic encephalopathy, early infantile, 59; EIEE59|EIEE59|infantile epileptic encephalopathy 59	http://purl.obolibrary.org/obo/MONDO_0033368		DOID:0080291|http://identifiers.org/omim/617904|UMLS:CN870853
MONDO:0033367	developmental and epileptic encephalopathy, 58	biolink:Disease	mondo	OMIM:617830|DOID:0080285|UMLS:CN757795		EIEE58|DEE58|epileptic encephalopathy, early infantile, 58; EIEE58|infantile epileptic encephalopathy 58|epileptic encephalopathy, early infantile, 58	http://purl.obolibrary.org/obo/MONDO_0033367		DOID:0080285|http://identifiers.org/omim/617830|UMLS:CN757795
MONDO:0033366	developmental and epileptic encephalopathy, 57	biolink:Disease	mondo	DOID:0080284|OMIM:617771|UMLS:CN633295		infantile epileptic encephalopathy 57|DEE57|EIEE57|epileptic encephalopathy, early infantile, 57|epileptic encephalopathy, early infantile, 57; EIEE57	http://purl.obolibrary.org/obo/MONDO_0033366		DOID:0080284|UMLS:CN633295|http://identifiers.org/omim/617771
MONDO:0033365	developmental and epileptic encephalopathy, 56	biolink:Disease	mondo	UMLS:CN477042|OMIM:617665|DOID:0080282		infantile epileptic encephalopathy 56|DEE56|EIEE56|epileptic encephalopathy, early infantile, 56; EIEE56|epileptic encephalopathy, early infantile, 56	http://purl.obolibrary.org/obo/MONDO_0033365		UMLS:CN477042|http://identifiers.org/omim/617665|DOID:0080282
MONDO:0033364	developmental and epileptic encephalopathy, 55	biolink:Disease	mondo	OMIM:617599|DOID:0080283		DEE55|EIEE55|glycosylphosphatidylinositol biosynthesis defect 14|epileptic encephalopathy, early infantile, 55; EIEE55|infantile epileptic encephalopathy 55|epileptic encephalopathy, early infantile, 55	http://purl.obolibrary.org/obo/MONDO_0033364		http://identifiers.org/omim/617599|DOID:0080283
MONDO:0033363	developmental and epileptic encephalopathy, 54	biolink:Disease	mondo	DOID:0080418|UMLS:C4479319|OMIM:617391		epileptic encephalopathy, early infantile, 54|EIEE54|epileptic encephalopathy, early infantile, 54; EIEE54|DEE54	http://purl.obolibrary.org/obo/MONDO_0033363		http://identifiers.org/omim/617391|UMLS:C4479319|DOID:0080418
MONDO:0021362		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021362		
MONDO:0021364	neoplasm of oropharynx	biolink:Disease	mondo	NCIT:C3291|UMLS:C0029295|SCTID:126809003		oropharynx neoplasm (disease)|oropharyngeal neoplasms|tumor of oropharynx|neoplasm of oropharynx|oropharynx tumor|neoplasm of the oropharynx|oropharynx neoplasm|tumor of the oropharynx|oropharyngeal neoplasm|oropharyngeal tumor	http://purl.obolibrary.org/obo/MONDO_0021364	A neoplasm (disease) that involves the oropharynx.	SNOMEDCT:126809003|UMLS:C0029295|NCIT:C3291
MONDO:0021366	neoplasm of middle ear	biolink:Disease	mondo	NCIT:C4412|SCTID:127006003|ICD9:239.89		middle Ear neoplasm|neoplasm of the middle Ear|middle Ear tumor|neoplasm of middle ear|middle ear neoplasm|middle ear tumor|tumor of middle Ear|tumor of the middle Ear|middle ear neoplasm (disease)|tumor of middle ear	http://purl.obolibrary.org/obo/MONDO_0021366	A neoplasm (disease) that involves the middle ear.	NCIT:C4412|SNOMEDCT:127006003
MONDO:0021367	leukemia, myeloid, accelerated-phase	biolink:Disease	mondo	EFO:1001755|UMLS:C0023472|MESH:D015465		CML AGGRESSIVE|Myelogenous Leukemia, Chronic, Aggressive-Phase|Myeloid Leukemia, Chronic, Aggressive-Phase|Myelogenous Leukemia, Chronic, Aggressive Phase|Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive|Leukemia, Myeloid, Accelerated-Phase|Aggressive-Phase CML|Accelerated Phase CML|Myeloid Leukemia, Chronic, Aggressive Phase|Leukemia, Myelogenous, Aggressive-Phase|Leukemia, Myeloid, Accelerated Phase|Leukemia, Myeloid, Aggressive-Phase|CML ACCELERATED|Aggressive-Phase Chronic Myeloid Leukemia|Leukemia, Myelogenous, Aggressive Phase|Accelerated Phase Chronic Myeloid Leukemia|Accelerated Phase Chronic Granulocytic Leukemia|Myeloid Leukemia, Chronic, Accelerated-Phase|Accelerated Phase Chronic Myelogenous Leukemia|Aggressive-Phase Chronic Myelogenous Leukemia|Accelerated phase chronic myeloid leukemia|Myeloid Leukemia, Chronic, Accelerated Phase|Aggressive-Phase Chronic Myelocytic Leukemia|Accelerated Phase Chronic Myelocytic Leukemia	http://purl.obolibrary.org/obo/MONDO_0021367	The phase of chronic myeloid leukemia following the chronic phase (leukemia, myeloid, chronic-phase), where there are increased systemic symptoms, worsening cytopenias, and refractory leukocytosis.	UMLS:C0023472|MESH:D015465
MONDO:0021368	neoplasm of major salivary gland	biolink:Disease	mondo	SCTID:126787005|UMLS:C0345599|NCIT:C4407		major salivary gland neoplasm|tumor of Major salivary gland|tumor of major salivary gland|major salivary gland tumor|tumor of the Major salivary gland|major salivary gland neoplasm (disease)|neoplasm of major salivary gland|neoplasm of the Major salivary gland	http://purl.obolibrary.org/obo/MONDO_0021368	A neoplasm (disease) that involves the major salivary gland.	UMLS:C0345599|SNOMEDCT:126787005|NCIT:C4407
MONDO:0021360	tumor of parathyroid gland	biolink:Disease	mondo	ICD9:239.7|SCTID:127020005|NCIT:C3313		parathyroid gland neoplasm (disease)|neoplasm of parathyroid gland|parathyroid neoplasm|tumor of the parathyroid gland|parathyroid gland neoplasm|parathyroid gland tumor|tumor of the parathyroid|tumor of parathyroid|parathyroid gland neoplasm|tumor of parathyroid gland|neoplasm of the parathyroid gland|neoplasm of the parathyroid|neoplasm of parathyroid|parathyroid tumor	http://purl.obolibrary.org/obo/MONDO_0021360	A neoplasm (disease) that involves the parathyroid gland.	NCIT:C3313|SNOMEDCT:127020005
NCBITaxon:1489838	Paracanthomorphacea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1489838		
MONDO:0033373	developmental and epileptic encephalopathy, 64	biolink:Disease	mondo	OMIM:618004|UMLS:CN248512		DEE64|EIEE64|epileptic encephalopathy, early infantile, 64; EIEE64|epileptic encephalopathy, early infantile, 64	http://purl.obolibrary.org/obo/MONDO_0033373		UMLS:CN248512|http://identifiers.org/omim/618004
MONDO:0033372	developmental and epileptic encephalopathy, 63	biolink:Disease	mondo	OMIM:617976|UMLS:CN244926|DOID:0080426		epileptic encephalopathy, early infantile, 63|epileptic encephalopathy, early infantile, 63; EIEE63|DEE63|EIEE63	http://purl.obolibrary.org/obo/MONDO_0033372		http://identifiers.org/omim/617976|UMLS:CN244926|DOID:0080426
MONDO:0033371	developmental and epileptic encephalopathy, 62	biolink:Disease	mondo	OMIM:617938|DOID:0080420|UMLS:CN244551		epileptic encephalopathy, early infantile, 62; EIEE62|epileptic encephalopathy, early infantile, 62|DEE62|EIEE62	http://purl.obolibrary.org/obo/MONDO_0033371		http://identifiers.org/omim/617938|UMLS:CN244551|DOID:0080420
MONDO:0033370	developmental and epileptic encephalopathy, 61	biolink:Disease	mondo	DOID:0080434|OMIM:617933|UMLS:CN244550		epileptic encephalopathy, early infantile, 61; EIEE61|epileptic encephalopathy, early infantile, 61|EIEE61|DEE61	http://purl.obolibrary.org/obo/MONDO_0033370		http://identifiers.org/omim/617933|UMLS:CN244550|DOID:0080434
MONDO:0033375	orofaciodigital syndrome 17	biolink:Disease	mondo	UMLS:CN902091|OMIM:617926|DOID:0080289		orofaciodigital syndrome XVII; OFD17|orofaciodigital syndrome XVII|Ofds 17|oral-Facial-digital syndrome, type 17|OFD17	http://purl.obolibrary.org/obo/MONDO_0033375		UMLS:CN902091|http://identifiers.org/omim/617926|DOID:0080289
MONDO:0033374	developmental and epileptic encephalopathy, 65	biolink:Disease	mondo	DOID:0080430|OMIM:618008|UMLS:CN248516		epileptic encephalopathy, early infantile, 65|epileptic encephalopathy, early infantile, 65; EIEE65|EIEE65|DEE65	http://purl.obolibrary.org/obo/MONDO_0033374		http://identifiers.org/omim/618008|UMLS:CN248516|DOID:0080430
MONDO:0021351	neoplasm of neck	biolink:Disease	mondo	UMLS:C0027533|ICD9:239.89|NCIT:C3260|SCTID:126635000		neck neoplasm (disease)|neoplasm of neck|tumor of neck|neck neoplasms (Including All pharyngeal related neoplasms)|neoplasm of the neck|neck neoplasm|neck tumor|tumor of the neck	http://purl.obolibrary.org/obo/MONDO_0021351	A neoplasm (disease) that involves the neck.	UMLS:C0027533|SNOMEDCT:126635000|NCIT:C3260
MONDO:0021353	tumor of uterus	biolink:Disease	mondo	ONCOTREE:UTERUS|ICD9:239.5|SCTID:126908007|EFO:0003859|NCIT:C3435		tumor of uterus|uterus neoplasm|neoplasm of the uterus|uterus neoplasm|neoplasm of uterus|uterus tumor|uterine neoplasm|uterine tumor|tumor of the uterus|uterus neoplasm (disease)|uterine neoplasms	http://purl.obolibrary.org/obo/MONDO_0021353	A neoplasm (disease) that involves the uterus.	SNOMEDCT:126908007|NCIT:C3435
MONDO:0021354	tumor of adipose tissue	biolink:Disease	mondo	NCIT:C4248|UMLS:C0206631|SCTID:254831005|ICD9:239.2		lipomatous neoplasm|neoplasm of the adipose tissue|adipose tissue neoplasm (disease)|adipose tissue neoplasm|lipomatous tumor|neoplasm of adipose tissue|adipose tissue tumor|tumor of the adipose tissue|tumor of adipose tissue	http://purl.obolibrary.org/obo/MONDO_0021354	A neoplasm (disease) that involves the adipose tissue.	UMLS:C0206631|SNOMEDCT:254831005|NCIT:C4248
MONDO:0021355	neoplasm of esophagus	biolink:Disease	mondo	NCIT:C3028|UMLS:C0014859|SCTID:126817006		esophageal tumor|tumor of esophagus|neoplasm of the esophagus|esophagus neoplasm (disease)|esophageal neoplasms, benign and malignant|esophagus neoplasm|neoplasm of esophagus|esophageal neoplasm|esophagus tumor|tumor of the esophagus|esophageal tumors	http://purl.obolibrary.org/obo/MONDO_0021355	A neoplasm (disease) that involves the esophagus.	SNOMEDCT:126817006|UMLS:C0014859|NCIT:C3028
MONDO:0021357	tumor of salivary gland	biolink:Disease	mondo	NCIT:C3361|EFO:0003826|SCTID:235132004		tumor of saliva-secreting gland|salivary gland neoplasm|tumor of the salivary gland|saliva-secreting gland neoplasm (disease)|neoplasm of saliva-secreting gland|saliva-secreting gland tumor|neoplasm of salivary gland|salivary gland tumor|neoplasm of the salivary gland|saliva-secreting gland neoplasm	http://purl.obolibrary.org/obo/MONDO_0021357	A neoplasm (disease) that involves the saliva-secreting gland.	NCIT:C3361|SNOMEDCT:235132004
MONDO:0021358	neoplasm of hypopharynx	biolink:Disease	mondo	NCIT:C3127|SCTID:126686005		hypopharyngeal neoplasm|hypopharynx neoplasm (disease)|tumor of hypopharynx|neoplasm of the hypopharynx|hypopharynx neoplasm|hypopharyngeal tumor|neoplasm of hypopharynx|hypopharynx tumor|hypopharyngeal neoplasms|tumor of the hypopharynx	http://purl.obolibrary.org/obo/MONDO_0021358	A neoplasm (disease) that involves the hypopharynx.	NCIT:C3127|SNOMEDCT:126686005
MONDO:0008379	retinitis pigmentosa 10	biolink:Disease	mondo	DOID:0110388|MESH:C566715|UMLS:C1867299|OMIM:180105|ICD10:H35.5		retinitis pigmentosa type 10|retinitis pigmentosa caused by mutation in IMPDH1|retinitis pigmentosa 10; RP10|IMPDH1 retinitis pigmentosa|retinitis pigmentosa 10|RP10	http://purl.obolibrary.org/obo/MONDO_0008379	Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPDH1 gene.	DOID:0110388|http://identifiers.org/omim/180105|MESH:C566715|UMLS:C1867299
MONDO:0008378	retinitis pigmentosa 9	biolink:Disease	mondo	ICD10:H35.5|OMIM:180104|GARD:0010382|DOID:0110387|MESH:C566716|UMLS:C1867300	gard_rare	retinitis pigmentosa caused by mutation in RP9|RP9|RP9 retinitis pigmentosa|retinitis pigmentosa 9|RP 9|retinitis pigmentosa 9; RP9|retinitis pigmentosa type 9	http://purl.obolibrary.org/obo/MONDO_0008378	Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP9 gene.	MESH:C566716|UMLS:C1867300|DOID:0110387|http://identifiers.org/omim/180104
MONDO:0008377	retinitis pigmentosa 1	biolink:Disease	mondo	GARD:0009149|MESH:C538365|ICD10:H35.5|UMLS:C0220701|OMIM:180100|DOID:0110390		retinitis pigmentosa|RP1|RP|retinitis pigmentosa 1; RP1|retinitis pigmentosa 1|retinitis pigmentosa; RP|retinitis pigmentosa caused by mutation in RP1|RP1 retinitis pigmentosa|retinitis pigmentosa type 1	http://purl.obolibrary.org/obo/MONDO_0008377	Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP1 gene.	UMLS:C0220701|MESH:C538365|http://identifiers.org/omim/180100|DOID:0110390
MONDO:0008376	retinal venous beading	biolink:Disease	mondo	OMIM:180080		retinal venous beading	http://purl.obolibrary.org/obo/MONDO_0008376		http://identifiers.org/omim/180080
MONDO:0008375	retinal detachment	biolink:Disease	mondo	SCTID_2010_1_31:193347002|ICD9:361.89|ICD9:361.9|SCTID_2010_1_31:155103005|SCTID_2010_1_31:42059000|ICD10:H33.2|ICD9:362.40|OMIM:180050|UMLS:C0035305|DOID:5327|NCIT:C26874|SCTID:42059000|MESH:D012163|COHD:378414|EFO:0005773		retina, detached|retinal detachment|detached retina	http://purl.obolibrary.org/obo/MONDO_0008375	An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision.	NCIT:C26874|SNOMEDCT:42059000|DOID:5327|MESH:D012163|http://identifiers.org/omim/180050|UMLS:C0035305
MONDO:0021350	neoplasm of thorax	biolink:Disease	mondo	SCTID:255058005|UMLS:C0039981|ICD9:239.89|NCIT:C3406		thoracic segment of trunk neoplasm|neoplasm of the thorax|tumor of thoracic segment of trunk|thoracic segment of trunk neoplasm (disease)|tumor of thorax|neoplasm of thoracic segment of trunk|tumor of the thorax|thoracic neoplasm|thoracic segment of trunk tumor|thoracic tumor	http://purl.obolibrary.org/obo/MONDO_0021350	A neoplasm (disease) that involves the thoracic segment of trunk.	UMLS:C0039981|SNOMEDCT:255058005|NCIT:C3406
MONDO:0008374	retinal cone dystrophy type 1	biolink:Disease	mondo	MESH:C566719|OMIM:180020|GARD:0003196		cone dystrophy, autosomal dominant|retinal cone Degeneration|retinal cone dystrophy 1; RCD1|cone dystrophy autosomal dominant|RCD1|retinal cone dystrophy 1	http://purl.obolibrary.org/obo/MONDO_0008374		MESH:C566719|http://identifiers.org/omim/180020
MONDO:0008373	retinal arterial tortuosity (disease)	biolink:Disease	mondo	ICD10:Q14.1|Orphanet:75326|DOID:0111547|OMIM:180000|HP:0001136	ordo_disease	retinal arterial tortuosity|retinal arteriolar tortuosity|RATOR|retinal arteries, tortuosity OF; RATOR|retinal hemorrhage with vascular tortuosity|retinal arteries, tortuosity OF|tortuosity of retinal arteries	http://purl.obolibrary.org/obo/MONDO_0008373		ORPHA:75326|DOID:0111547|http://identifiers.org/omim/180000
MONDO:0008372	retinal aplasia	biolink:Disease	mondo	UMLS:C1867331|OMIM:179900|MESH:C566720		amaurosis congenita|retinal aplasia	http://purl.obolibrary.org/obo/MONDO_0008372		MESH:C566720|http://identifiers.org/omim/179900|UMLS:C1867331
MONDO:0008371	Dowling-Degos disease	biolink:Disease	mondo	ICD10:L81.8|MedDRA:10068651|Orphanet:79145|MESH:C562924|DOID:0060256|GARD:0009775	ordo_disease	dark dot disease|DDD1|reticular pigment anomaly of flexures|Dowling-Degos Kitamura disease|Dowling-Degos disease type 1|Dowling-Degos disease 1	http://purl.obolibrary.org/obo/MONDO_0008371	A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases.	MEDDRA:10068651|MESH:C562924|ORPHA:79145|DOID:0060256
MONDO:0008370	reticular dystrophy of retinal pigment epithelium	biolink:Disease	mondo	OMIM:179840|SCTID:723502001|MESH:C566721|UMLS:C1867332		reticular dystrophy of retinal pigment epithelium	http://purl.obolibrary.org/obo/MONDO_0008370		http://identifiers.org/omim/179840|MESH:C566721|UMLS:C1867332|SNOMEDCT:723502001
PATO:0001475	increased position	biolink:OntologyClass	mondo			high position	http://purl.obolibrary.org/obo/PATO_0001475	A position which is relatively high.	
PATO:0001476	decreased position	biolink:OntologyClass	mondo			low position	http://purl.obolibrary.org/obo/PATO_0001476	A positional which is relatively low.	
HGNC:28093	BBIP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28093		
MONDO:0021348	neoplasm of testis	biolink:Disease	mondo	NCIT:C3404|ONCOTREE:TESTIS|EFO:0004281|ICD9:239.5|SCTID:126900000		tumor of the testis|testicular tumor|testicular neoplasm|testis neoplasm (disease)|tumor of testis|neoplasm of the testis|neoplasm of testis|testis tumor|testis neoplasm|testis neoplasm	http://purl.obolibrary.org/obo/MONDO_0021348	A neoplasm (disease) that involves the testis.	NCIT:C3404|SNOMEDCT:126900000
MONDO:0021340	intertrigo	biolink:Disease	mondo	ICD9:695.89|UMLS:C0021807|SCTID:58759008|MESH:D007402		Erythema intertrigo|Intertrigo|Eczema intertrigo	http://purl.obolibrary.org/obo/MONDO_0021340	A superficial dermatitis occurring on skin surfaces in contact with each other, such as the axillae, neck creases, intergluteal fold, between the toes, etc. Obesity is a predisposing factor. The condition is caused by moisture and friction and is characterized by erythema, maceration, burning, and exudation.	MESH:D007402|SNOMEDCT:58759008|UMLS:C0021807
MONDO:0021343	carcinoma of floor of mouth	biolink:Disease	mondo	NCIT:C9319|SCTID:449156009		carcinoma of mouth floor|mouth floor carcinoma|mouth floor cancer|carcinoma of the floor of the mouth|floor of the mouth carcinoma|floor of mouth carcinoma	http://purl.obolibrary.org/obo/MONDO_0021343	A carcinoma that involves the mouth floor.	SNOMEDCT:449156009|NCIT:C9319
MONDO:0021345	carcinoma of pharynx	biolink:Disease	mondo	NCIT:C9466|SCTID:449254004		pharyngeal carcinoma|carcinoma of the pharynx|pharyngeal throat cancer|cancer of the pharynx|pharynx carcinoma|carcinoma of pharynx	http://purl.obolibrary.org/obo/MONDO_0021345	A carcinoma that involves the pharynx.	NCIT:C9466|SNOMEDCT:449254004
MONDO:0021347		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021347		
MONDO:0008389	autosomal dominant Robinow syndrome	biolink:Disease	mondo	ICD9:759.89|Orphanet:3107|ICD10:Q87.1|SCTID:76520005|UMLS:CN203673	ordo_clinical_subtype	Robinow syndrome, autosomal dominant|autosomal dominant Robinow syndrome|Robinow syndrome, autosomal dominant type	http://purl.obolibrary.org/obo/MONDO_0008389	Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.	ORPHA:3107|UMLS:CN203673|SNOMEDCT:76520005
MONDO:0008388	ringed hair disease	biolink:Disease	mondo	ICD10:Q84.1|GARD:0004359|MESH:C537187|Orphanet:169|OMIM:180600|SCTID:21926007|UMLS:C0263489	ordo_disease	pili annulati|ringed hair	http://purl.obolibrary.org/obo/MONDO_0008388	Pili annulati is an isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or very rarely beard, axillary, or pubic hair, that is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases.	http://identifiers.org/omim/180600|MESH:C537187|ORPHA:169|SNOMEDCT:21926007|UMLS:C0263489
MONDO:0008387	ring dermoid of cornea	biolink:Disease	mondo	GARD:0009696|UMLS:C1867155|SCTID:723499000|ICD10:D31.1|MESH:C535684|DOID:0111548|Orphanet:91481|OMIM:180550	gard_rare|ordo_disease	ring dermoid of cornea|Ring dermoid syndrome|bilateral, annular limbal dermoids with corneal and conjunctival extension|RDC|RING dermoid of cornea; RDC	http://purl.obolibrary.org/obo/MONDO_0008387	Ring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition.	SNOMEDCT:723499000|ORPHA:91481|UMLS:C1867155|DOID:0111548|MESH:C535684|http://identifiers.org/omim/180550
MONDO:0008386	Axenfeld-Rieger syndrome type 1	biolink:Disease	mondo	OMIM:180500|NCIT:C75015|UMLS:C3714873|DOID:0110120|ICD10:Q13.8		Axenfeld-Rieger syndrome, type 1; RIEG1|Axenfeld-Rieger syndrome, type 1|Rgs|Rieger syndrome type 1|Rieger syndrome, type 1|RIEG1|Rieg|Axenfeld-Rieger syndrome caused by mutation in PITX2|PITX2 Axenfeld-Rieger syndrome	http://purl.obolibrary.org/obo/MONDO_0008386	A rare autosomal dominant syndrome linked to mutations in the PITX2 gene. It is characterized by abnormalities in the anterior chamber of the eye and underdevelopment of the teeth.	UMLS:C3714873|NCIT:C75015|DOID:0110120|http://identifiers.org/omim/180500
MONDO:0008385	rhiny	biolink:Disease	mondo	OMIM:180360|MESH:C566708	n_of_one	rhiny|craniorhiny	http://purl.obolibrary.org/obo/MONDO_0008385		MESH:C566708|http://identifiers.org/omim/180360
MONDO:0008384	rheumatoid nodulosis	biolink:Disease	mondo	MESH:D012218|OMIM:180350|SCTID:402426007|UMLS:C1304215|SCTID:402427003|GARD:0009625	gard_rare	rheumatoid nodulosis|accelerated rheumatoid nodulosis	http://purl.obolibrary.org/obo/MONDO_0008384	A particular variant of polyarthritis associated with early manifestations of palindromic rheumatism, radiologic subchondral bone cysts, and subcutaneous rheumatoid nodules.	SNOMEDCT:402426007|UMLS:C1304215|MESH:D012218|http://identifiers.org/omim/180350|SNOMEDCT:402427003
MONDO:0008383	rheumatoid arthritis	biolink:Disease	mondo	MESH:D001172|OMIM:180300|EFO:0000685|DOID:7148|SCTID:69896004|COHD:80809|NCIT:C2884|ICD9:714.0|ICD10:M06.9|UMLS:C0003873|KEGG:05323		atrophic arthritis|rheumatoid arthritis, susceptibility to|RA|autoimmune arthritis|rheumatoid arthritis|arthritis or polyarthritis, rheumatic|rheumatoid arthritis; RA|arthritis, rheumatoid	http://purl.obolibrary.org/obo/MONDO_0008383	A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor.	DOID:7148|MESH:D001172|UMLS:C0003873|NCIT:C2884|http://identifiers.org/omim/180300|SNOMEDCT:69896004
MONDO:0008382	retinoschisis, autosomal dominant	biolink:Disease	mondo	OMIM:180270|GARD:0009144|MESH:C000598640|UMLS:C1867235	gard_rare	autosomal dominant retinoschisis|retinoschisis, autosomal dominant|retinoschisis autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008382	Autosomal dominant form of retinoschisis.	MESH:C000598640|UMLS:C1867235|http://identifiers.org/omim/180270
MONDO:0008381	dominant pericentral pigmentary retinopathy	biolink:Disease	mondo	OMIM:180210|MESH:C566713|UMLS:C1867261|ICD10:H35.5|DOID:0110420		retinopathy, pericentral pigmentary, dominant	http://purl.obolibrary.org/obo/MONDO_0008381	A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life.	MESH:C566713|UMLS:C1867261|DOID:0110420|http://identifiers.org/omim/180210
PATO:0001481	sloped	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0001481	A shape quality inhering in a bearer by virtue of the bearer's having an oblique or slanted direction.	
MONDO:0008380	retinoblastoma	biolink:Disease	mondo	UMLS:C0035335|MESH:D012175|ONCOTREE:RBL|Orphanet:790|GARD:0007563|NCIT:C7541|ICDO:9510/3|OMIM:180200|SCTID:370967009|DOID:768|ICD10:C69.2|MedDRA:10038916	ordo_disease	eye cancer, retinoblastoma|RB|retinoblastoma, malignant|retinoblastoma; RB1|RB - retinoblastoma|RB1|retinoblastoma|neuroblastoma of retina|Rb	http://purl.obolibrary.org/obo/MONDO_0008380	A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.	MEDDRA:10038916|SNOMEDCT:370967009|MESH:D012175|DOID:768|ORPHA:790|NCIT:C7541|http://identifiers.org/omim/180200|UMLS:C0035335
MONDO:0021337	tonsil carcinoma	biolink:Disease	mondo	NCIT:C4825|SCTID:274085008|UMLS:C0558355		tonsillar cancer|tonsil carcinoma|tonsil cancer|cancer of tonsil|cancer of the tonsil|carcinoma of tonsil|carcinoma of the tonsil|tonsillar carcinoma	http://purl.obolibrary.org/obo/MONDO_0021337	A carcinoma that involves the tonsil.	UMLS:C0558355|NCIT:C4825|SNOMEDCT:274085008
MONDO:0021339	carcinoma of hard palate	biolink:Disease	mondo	NCIT:C8394|SCTID:254434008|UMLS:C0345550		carcinoma of the hard palate|hard palate carcinoma|carcinoma of hard palate	http://purl.obolibrary.org/obo/MONDO_0021339	A carcinoma that involves the hard palate.	SNOMEDCT:254434008|UMLS:C0345550|NCIT:C8394
NCBITaxon:43816	Anophelinae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_43816		
NCBITaxon:43817	Culicinae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_43817		
PATO:0001414	catalytic activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0001414	A physical quality inhering in a catalyst by virtue of the amount of the catalyst's action.	
PATO:0001412	unstructured	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0001412	A structural quality inhering in a bearer by virtue of the bearer's lacking distinct structure.	
HGNC:28072	LYRM7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28072		
NCBITaxon:43801	Ceratopogoninae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_43801		
HGNC:28086	NDUFAF2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28086		
MONDO:0021396	polyp of vulva	biolink:Disease	mondo	NCIT:C3978|ICD10:N84.3|SCTID:57158005|UMLS:C0269218|ICD9:624.6		vulva polyp|polyp of the vulva|mammalian vulva polyp|vulvar polyp	http://purl.obolibrary.org/obo/MONDO_0021396	A polyp that involves the mammalian vulva.	UMLS:C0269218|SNOMEDCT:57158005|NCIT:C3978
HGNC:16075	RAB33B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16075		
MONDO:0021398	polyp of rectum	biolink:Disease	mondo	NCIT:C3351|UMLS:C0034887|SCTID:39772007		polyp of the rectum|rectum polyp|rectal polyp	http://purl.obolibrary.org/obo/MONDO_0021398	A polyp that involves the rectum.	SNOMEDCT:39772007|UMLS:C0034887|NCIT:C3351
NCBITaxon:1489845	Gadoidei	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1489845		
NCBITaxon:1489843	Gadariae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1489843		
NCBITaxon:1489841	Zeiogadaria	organism taxon	mondo	GC_ID:1		Zeiogadiformes	http://purl.obolibrary.org/obo/NCBITaxon_1489841		
MONDO:0021390	polyp of ureter	biolink:Disease	mondo	UMLS:C0346269|SCTID:197821004|ICD9:593.89|NCIT:C4530		ureteral polyp|polyp of the ureter|ureter polyp	http://purl.obolibrary.org/obo/MONDO_0021390	A polyp that involves the ureter.	NCIT:C4530|UMLS:C0346269|SNOMEDCT:197821004
MONDO:0021392	polyp of large intestine	biolink:Disease	mondo	SCTID:399505005|UMLS:C0949059|NCIT:C5679		colorectal polyp|polyp of the large bowel|large bowel polyp|large intestine polyp|polyp of large bowel|polyp of the large intestine	http://purl.obolibrary.org/obo/MONDO_0021392	A polyp that involves the large intestine.	NCIT:C5679|UMLS:C0949059|SNOMEDCT:399505005
MONDO:0021394	polyp of vagina	biolink:Disease	mondo	ICD10:N84.2|ICD9:623.7|NCIT:C3664|UMLS:C0156390|SCTID:29609001		vagina polyp|vaginal polyp|polyp, vaginal, benign|polyp of the vagina	http://purl.obolibrary.org/obo/MONDO_0021394	A polyp that involves the vagina.	UMLS:C0156390|SNOMEDCT:29609001|NCIT:C3664
HGNC:28052	XPNPEP3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28052		
GO:0016247	channel regulator activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016247	Modulates the activity of a channel. A channel catalyzes energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel.	
GO:0016248	channel inhibitor activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016248	Stops, prevents, or reduces the activity of a channel via direct interaction with the channel. A channel catalyzes energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel.	
HGNC:16084	LIMS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16084		
MONDO:0021385	extrahepatic bile duct neoplasm	biolink:Disease	mondo	NCIT:C4441|SCTID:126855001		tumor of extrahepatic bile duct|extrahepatic bile duct neoplasm (disease)|neoplasm of the extrahepatic bile duct|neoplasm of extrahepatic bile duct|extrahepatic bile duct tumor|tumor of the extrahepatic bile duct|extrahepatic bile duct neoplasm	http://purl.obolibrary.org/obo/MONDO_0021385	A benign or malignant neoplasm that affects the extrahepatic bile ducts. Representative examples include adenoma and adenocarcinoma.	SNOMEDCT:126855001|NCIT:C4441
MONDO:0021386	neoplasm of mediastinum	biolink:Disease	mondo	ICD9:239.89|SCTID:126725000|NCIT:C3221		mediastinal tumor|neoplasm of the mediastinum|tumor of mediastinum|mediastinum neoplasm (disease)|mediastinal neoplasm|tumor of the mediastinum|mediastinal neoplasm NOS|mediastinum neoplasm|neoplasm of mediastinum|mediastinum tumor	http://purl.obolibrary.org/obo/MONDO_0021386	A neoplasm (disease) that involves the mediastinum.	NCIT:C3221|SNOMEDCT:126725000
MONDO:0021388	neoplasm of chest wall	biolink:Disease	mondo	UMLS:C1290309|NCIT:C4929|ICD9:239.89|SCTID:126640008		chest wall tumor|tumor of the chest wall|chest wall neoplasm|neoplasm of chest wall|chest wall neoplasm (disease)|tumor of chest wall|neoplasm of the chest wall	http://purl.obolibrary.org/obo/MONDO_0021388	A neoplasm (disease) that involves the chest wall.	UMLS:C1290309|SNOMEDCT:126640008|NCIT:C4929
MONDO:0021389	neoplasm of aortic body	biolink:Disease	mondo	ICDO:8691/1|ICD9:239.7|UMLS:C0334417|NCIT:C4218|SCTID:127029006		paraganglioma of the aortic body|paraganglioma of aortic body|aortic body paraganglioma|tumor of aortic body|neoplasm of the aortic body|neoplasm of aortic body|aortic body neoplasm (disease)|aortic body tumor|tumor of the aortic body|aorticopulmonary paraganglioma|aortic body neoplasm	http://purl.obolibrary.org/obo/MONDO_0021389	A benign or malignant extra-adrenal parasympathetic paraganglioma that arises from paraganglia adjacent to the base of the heart and great vessels.	NCIT:C4218|UMLS:C0334417|SNOMEDCT:127029006
MONDO:0021380	neoplasm of myocardium	biolink:Disease	mondo	ICD9:239.89|SCTID:126732009|NCIT:C5349|UMLS:C1290402		myocardial neoplasm|tumor of the myocardium|myocardium neoplasm|tumor of myocardium|myocardial tumor|neoplasm of the myocardium|myocardium neoplasm (disease)|neoplasm of myocardium|myocardium tumor	http://purl.obolibrary.org/obo/MONDO_0021380	A neoplasm (disease) that involves the myocardium.	NCIT:C5349|SNOMEDCT:126732009|UMLS:C1290402
MONDO:0021381	neoplasm of pericardium	biolink:Disease	mondo	ICD9:239.89|NCIT:C4651|SCTID:126734005		pericardium neoplasm (disease)|pericardial neoplasm|tumor of the pericardium|neoplasm of pericardium|pericardium tumor|pericardium neoplasm|pericardial tumor|tumor of pericardium|neoplasm of the pericardium	http://purl.obolibrary.org/obo/MONDO_0021381	A neoplasm (disease) that involves the pericardium.	SNOMEDCT:126734005|NCIT:C4651
MONDO:0021383	neoplasm of floor of mouth	biolink:Disease	mondo	UMLS:C0345538|NCIT:C4401|SCTID:126799003		floor of mouth neoplasm|mouth floor neoplasm (disease)|tumor of mouth floor|floor of the mouth neoplasm|neoplasm of the floor of the mouth|floor of the mouth tumor|floor of mouth tumor|neoplasm of mouth floor|mouth floor neoplasm|mouth floor tumor|tumor of floor of mouth|tumor of the floor of the mouth	http://purl.obolibrary.org/obo/MONDO_0021383	A neoplasm (disease) that involves the mouth floor.	NCIT:C4401|SNOMEDCT:126799003|UMLS:C0345538
HGNC:16088	SFXN4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16088		
GO:0016250	N-sulfoglucosamine sulfohydrolase activity	biolink:OntologyClass	mondo			N-sulphoglucosamine sulphohydrolase activity|N-sulfo-D-glucosamine sulfohydrolase activity|heparin sulfamidase activity|sulphamidase activity|sulfoglucosamine sulfamidase activity|2-desoxy-D-glucoside-2-sulphamate sulphohydrolase (sulphamate sulphohydrolase)	http://purl.obolibrary.org/obo/GO_0016250	Catalysis of the reaction: N-sulfo-D-glucosamine + H2O = D-glucosamine + sulfate.	
MONDO:0033352	neuropathy, congenital hypomelinating	biolink:Disease	mondo	OMIMPS:605253		CHN	http://purl.obolibrary.org/obo/MONDO_0033352		
MONDO:0008319	protoporphyria, erythropoietic, 1	biolink:Disease	mondo	OMIM:177000|GARD:0004527|NCIT:C84698	gard_rare	Erythrohepatic protoporphyria|protoporphyria, erythropoietic; EPP|protoporphyria, erythropoietic|heme synthetase deficiency|ferrochelatase deficiency|erythropoietic protoporphyria|EPP1|EPP|erythropoietic protoporphyria|protoporphyria, erythropoietic, 1	http://purl.obolibrary.org/obo/MONDO_0008319	Erythropoietic protoporphyria caused by a compound heterozygous or homozygous mutation in the gene encoding ferrochelatase (FECH) on chromosome 18q21.	NCIT:C84698|http://identifiers.org/omim/177000
MONDO:0008318	Proteus syndrome	biolink:Disease	mondo	SCTID:23150001|DOID:13482|OMIM:176920|MESH:D016715|UMLS:C0085261|Orphanet:744|GARD:0007475|NCIT:C85032|MONDO:0023663|ICD9:759.89|ICD10:Q87.3	ordo_malformation_syndrome	Proteus syndrome|Wiedemann's syndrome|partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly|hemihypertrophy and macrocephaly|Elattoproteus syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly	http://purl.obolibrary.org/obo/MONDO_0008318	Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.	SNOMEDCT:23150001|MESH:D016715|UMLS:C0085261|ORPHA:744|DOID:13482|NCIT:C85032|http://identifiers.org/omim/176920
MONDO:0008317	proteolytic capacity of plasma	biolink:Disease	mondo	OMIM:176900		proteolytic capacity of plasma	http://purl.obolibrary.org/obo/MONDO_0008317		http://identifiers.org/omim/176900
MONDO:0008316	thrombophilia due to protein C deficiency, autosomal dominant	biolink:Disease	mondo	OMIM:176860		thrombophilia due to PROTEIN C deficiency, autosomal dominant; THPH3|THPH3|thrombophilia due to protein C deficiency, autosomal dominant|Protein C deficiency, autosomal dominant|Proc deficiency, autosomal dominant|Protein C deficiency, acquired	http://purl.obolibrary.org/obo/MONDO_0008316		http://identifiers.org/omim/176860
MONDO:0008315	prostate cancer	biolink:Disease	mondo	DOID:10283|ICD9:185|UMLS:C0376358|SCTID:399068003|COHD:4163261|NCIT:C7378|ICD10:C61|MESH:D011471	ordo_disease	prostate cancer, familial|malignant tumor of prostate|prostate cancer|hereditary prostate cancer|malignant neoplasm of prostate|malignant neoplasm of prostate gland|malignant prostate tumor|malignant neoplasm of the prostate|prostate neoplasm|prostate gland cancer|tumor of the prostate|malignant prostate neoplasm|prostatic cancer|malignant tumor of the prostate|prostatic neoplasm|malignant prostate gland neoplasm|cancer of prostate gland|NGP - new growth of prostate	http://purl.obolibrary.org/obo/MONDO_0008315	A primary or metastatic malignant tumor involving the prostate gland. The vast majority are carcinomas.	MESH:D011471|NCIT:C7378|SNOMEDCT:399068003|DOID:10283|UMLS:C0376358
NCBITaxon:28221	Deltaproteobacteria	organism taxon	mondo	PMID:28771119|PMID:11837318|GC_ID:11|PMID:16403855|PMID:27453056		d-proteobacteria|Proteobacteria delta subdivision|Purple bacteria, delta subdivision|delta subgroup|Myxococcia|delta subdivision|Deltabacteria Cavalier-Smith 2002|"Deltabacteria" Cavalier-Smith 1992|delta proteobacteria	http://purl.obolibrary.org/obo/NCBITaxon_28221		
MONDO:0011967	heterotopia, periventricular, associated with chromosome 5P anomalies	biolink:Disease	mondo	UMLS:C1842562|MESH:C564291|OMIM:608098		heterotopia, periventricular, associated with chromosome 5P anomalies|periventricular nodular heterotopia 3	http://purl.obolibrary.org/obo/MONDO_0011967		MESH:C564291|UMLS:C1842562|http://identifiers.org/omim/608098
UBERON:0005192	deferent duct artery	biolink:AnatomicalEntity	mondo			arteria ductus deferentis|vas deferens artery|artery of ductus deferens|ductus deferens artery	http://purl.obolibrary.org/obo/UBERON_0005192	An artery in males that provides blood to the vas deferens. The artery usually arises from the anterior trunk of the superior vesical artery. It accompanies the vas deferens into the testis, where it anastomoses with the testicular artery. In this way it also supplies blood to the testis and epididymis. A small branch supplies the ureter[WP].	
MONDO:0011968	autosomal recessive limb-girdle muscular dystrophy type 2D	biolink:Disease	mondo	GARD:0000438|NCIT:C142081|SCTID:715340002|ICD10:G71.0|DOID:0110278|Orphanet:62|OMIM:608099	ordo_disease	SGCA autosomal recessive limb-girdle muscular dystrophy|limb-girdle muscular dystrophy, type 2D|primary adhalinopathy|muscular dystrophy, limb-girdle, type 2D|Duchenne-like autosomal recessive muscular dystrophy type 2|muscular dystrophy limb-girdle with alpha-sarcoglycan|limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency|limb-girdle muscular dystrophy type 2D|Alpha-sarcoglycanopathy|muscular dystrophy, limb-girdle, type 2D; LGMD2D|LGMD2D|Adhalinopathy, primary|DMDA2|autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCA|Duchenne-like autosomal recessive muscular dystrophy, type 2	http://purl.obolibrary.org/obo/MONDO_0011968	Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.	DOID:0110278|UMLS:C1842550|NCIT:C142081|ORPHA:62|SNOMEDCT:715340002|http://identifiers.org/omim/608099|UMLS:C2936332
MONDO:0008314	pronation-supination of the forearm, impairment of	biolink:Disease	mondo	MESH:C566757|UMLS:C1867726|OMIM:176800		pronation-supination of the forearm, impairment of	http://purl.obolibrary.org/obo/MONDO_0008314		MESH:C566757|UMLS:C1867726|http://identifiers.org/omim/176800
MONDO:0011965	familial temporal lobe epilepsy 2	biolink:Disease	mondo	Orphanet:98819|OMIM:608096|GARD:0005135|MESH:C536956|DOID:0060755|ICD10:G40.2	ordo_disease	temporal epilepsy, familial|Ftle|familial temporal lobe epilepsy|familial temporal lobe epilepsy type 2|epilepsy, familial temporal lobe, 2|epilepsy, familial temporal lobe, 2; ETL2|epilepsy, familial temporal lobe|ETL2	http://purl.obolibrary.org/obo/MONDO_0011965	A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has material basis in variation in the chromosome region 12q22-q23.3.	ORPHA:98819|UMLS:C1842564|MESH:C536956|DOID:0060755|http://identifiers.org/omim/608096
MONDO:0008313	pelvic organ prolapse, susceptibility to	biolink:Disease	mondo	OMIM:176780	predisposition	prolapse of vagina and rectum|pelvic organ prolapse, susceptibility to|pelvic organ prolapse, susceptibility to, 1|vaginal prolapse|rectal prolapse	http://purl.obolibrary.org/obo/MONDO_0008313		http://identifiers.org/omim/176780
MONDO:0008312	autosomal dominant prognathism	biolink:Disease	mondo	ICD10:K07.1|Orphanet:2964|UMLS:CN203311|MESH:D008313|OMIM:176700|GARD:0010319	ordo_malformation_syndrome	Hapsburg jaw|Habsburg jaw|prognathism, mandibular|'Habsburg jaw'|'Hapsburg jaw'|prognathism mandibular	http://purl.obolibrary.org/obo/MONDO_0008312	Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion).	ORPHA:2964|MESH:D008313|http://identifiers.org/omim/176700|UMLS:CN203311
MONDO:0011966	periventricular heterotopia with microcephaly, autosomal recessive	biolink:Disease	mondo	MESH:C564292|UMLS:C1842563|OMIM:608097		ARPHM|periventricular heterotopia with microcephaly, autosomal recessive; ARPHM|periventricular nodular heterotopia 2|heterotopia, periventricular, autosomal recessive|periventricular heterotopia with microcephaly, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0011966		MESH:C564292|UMLS:C1842563|http://identifiers.org/omim/608097
MONDO:0008311	progeria-short stature-pigmented nevi syndrome	biolink:Disease	mondo	UMLS:C1261128|OMIM:176690|Orphanet:2959|GARD:0004494|MESH:C536422|ICD9:759.89|SCTID:399947002	ordo_malformation_syndrome	progeroid short stature with pigmented nevi|Mulvihill-Smith syndrome	http://purl.obolibrary.org/obo/MONDO_0008311	Progeria-short stature-pigmented nevi is a progeroid disorder characterised by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat.	ORPHA:2959|MESH:C536422|http://identifiers.org/omim/176690|SNOMEDCT:399947002|UMLS:C1261128
HGNC:28033	CCDC174	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28033		
MONDO:0008310	Hutchinson-Gilford progeria syndrome	biolink:Disease	mondo	DOID:3911|Orphanet:740|SCTID:238870004|MedDRA:10036794|UMLS:CN236401|ICD9:259.8|NCIT:C34951|OMIM:176670|GARD:0007467|UMLS:C0033300|ICD10:E34.8|MESH:D011371	clingen|prototype_pattern|ordo_disease|gard_rare	premature senility syndrome|Hutchinson-Gilford progeria syndrome|Hutchinson-Gilford disease|HGPS|progeria syndrome, childhood-onset|Hutchinson-Gilford progeria syndrome|Hutchinson Gilford syndrome|Hutchinson-Gilford progeria syndrome; HGPS|progeria|Hutchinson Gilford progeria syndrome	http://purl.obolibrary.org/obo/MONDO_0008310	Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).	MEDDRA:10036794|ORPHA:740|NCIT:C34951|MESH:D011371|UMLS:CN236401|DOID:3911|http://identifiers.org/omim/176670|SNOMEDCT:238870004|UMLS:C0033300
UBERON_CORE:filtered_through	filtered through	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/uberon/core#filtered_through	Relationship between a fluid and a material entity, where the fluid is the output of a realization of a filtration role that inheres in the material entity.	
MONDO:0011969	ALG8-CDG	biolink:Disease	mondo	DOID:0080560|OMIM:608104|Orphanet:79325|SCTID:720977000|GARD:0009834|ICD10:E77.8|UMLS:C2931002|MESH:C535746	ordo_disease	ALG8-CDG (CDG-Ih)|CDG syndrome type Ih|congenital disorder of glycosylation type Ih|congenital disorder of glycosylation, type Ih|congenital disorder of glycosylation, type Ih; CDG1H|CDG1H|CDG 1H|glucosyltransferase 2 deficiency|congenital disorder of glycosylation type 1h|carbohydrate deficient glycoprotein syndrome type Ih|CDG-Ih|CDG Ih	http://purl.obolibrary.org/obo/MONDO_0011969	(11q14.1), resulting in a block in the initial step of protein glycosylation.	DOID:0080560|SNOMEDCT:720977000|ORPHA:79325|MESH:C535746|UMLS:C2931002|http://identifiers.org/omim/608104
MONDO:0011970	rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome	biolink:Disease	mondo	Orphanet:163727|MESH:C535499|OMIM:608105|DOID:0111645|UMLS:C1842531	ordo_disease	EPRPDC|epilepsy, ROLANDIC, with paroxysmal exercise-induced dystonia and writer'S cramp|Re-ped-Wc|epilepsy, ROLANDIC, with paroxysmal exercise-induced dystonia and writer'S cramp; EPRPDC	http://purl.obolibrary.org/obo/MONDO_0011970		http://identifiers.org/omim/608105|DOID:0111645|MESH:C535499|UMLS:C1842531|ORPHA:163727
MONDO:0011971	hyper-IgM syndrome type 5	biolink:Disease	mondo	ICD10:D80.5|OMIM:608106|GARD:0010581|DOID:0060759|Orphanet:101092	gard_rare|ordo_clinical_subtype	hyper-IgM syndrome due to uracil N-glycosylase|hyper-IgM syndrome caused by mutation in UNG|HIGM5|immunodeficiency with hyper-IgM, type 5|hyper IgM syndrome 5|hyper-IgM syndrome due to UNG deficiency|immunodeficiency with hyper-IgM, type 5; HIGM5|immunodeficiency with hyper IgM type 5|UNG hyper-IgM syndrome|hyper-IgM syndrome 5	http://purl.obolibrary.org/obo/MONDO_0011971	Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene.	DOID:0060759|ORPHA:101092|http://identifiers.org/omim/608106
HGNC:3483	ETFDH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3483		
UBERON:0005199	cervical mammary gland	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005199	A mammary gland that is part of a cervical region.	
HGNC:3482	ETFB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3482		
HGNC:3481	ETFA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3481		
MONDO:0011974	retinitis pigmentosa 7	biolink:Disease	mondo	ICD10:H35.5|DOID:0110383|OMIM:608133|UMLS:C1842475|GARD:0010386	gard_rare	Leber congenital amaurosis 18|RP7|retinitis pigmentosa type 7|retinitis pigmentosa 7; RP7|retinitis pigmentosa 7, digenic|RP 7|retinitis pigmentosa 7	http://purl.obolibrary.org/obo/MONDO_0011974	A retinitis pigmentosa that has material basis in mutation in the PRPH2 gene on chromosome 6p21.	DOID:0110383|UMLS:C1842475|http://identifiers.org/omim/608133
MONDO:0011975	paternal uniparental disomy of chromosome 14	biolink:Disease	mondo	Orphanet:96334|UMLS:C1842466|MESH:C536471|OMIM:608149|GARD:0005409|ICD10:Q99.8	ordo_etiological_subtype|gard_rare	paternal uniparental disomy of chromosome type 14|UPD(14)pat|KAGAMI-Ogata syndrome|paternal uniparental disomy 14|uniparental disomy, paternal, chromosome 14	http://purl.obolibrary.org/obo/MONDO_0011975		ORPHA:96334|UMLS:C1842466|http://identifiers.org/omim/608149|MESH:C536471
UBERON:0005195	deferent duct vein	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005195	A vein that is part of a vas deferens [Automatically generated definition].	
UBERON:0005194	thoracic vein	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005194	A vein that is part of a thorax [Automatically generated definition].	
MONDO:0011972	ovarian hyperstimulation syndrome	biolink:Disease	mondo	SCTID:129635004|Orphanet:64739|UMLS:C0085083|ICD9:256.1|MedDRA:10033266|ICD10:N98.1|DOID:5425|MESH:D016471|OMIM:608115	ordo_disease	OHSS|ovarian hyperstimulation syndrome, familial gestational spontaneous|secondary Meig's syndrome|ovarian hyperstimulation syndrome|ovarian hyperstimulation syndrome; OHSS	http://purl.obolibrary.org/obo/MONDO_0011972	A complication of ovulation induction in infertility treatment. It is graded by the severity of symptoms which include ovary enlargement, multiple ovarian follicles; ovarian cysts; ascites; and generalized edema. The full-blown syndrome may lead to renal failure, respiratory distress, and even death. Increased capillary permeability is caused by the vasoactive substances, such as vascular endothelial growth factors, secreted by the overly-stimulated ovaries.	MESH:D016471|ORPHA:64739|UMLS:C0085083|http://identifiers.org/omim/608115|DOID:5425|SNOMEDCT:129635004|MEDDRA:10033266
MONDO:0011973	zinc deficiency, transient neonatal	biolink:Disease	mondo	MESH:C564286|OMIM:608118|UMLS:C1842486		zinc deficiency, transient neonatal|TNZD|zinc deficiency, transient neonatal; TNZD|zinc in breast milk, reduced|zinc deficiency, neonatal, due to Low breast milk zinc	http://purl.obolibrary.org/obo/MONDO_0011973		http://identifiers.org/omim/608118|MESH:C564286|UMLS:C1842486
FOODON:03400164	dairy product (us cfr)	biolink:OntologyClass	mondo	http://www.langual.org/langual_thesaurus.asp?termid=A0164			http://purl.obolibrary.org/obo/FOODON_03400164	Milk, a product derived from milk, or a dairy product analog; includes cheese and frozen dairy desserts. [FDA CFSAN 1995]	
UBERON:0017163	skin bony tubercle	biolink:AnatomicalEntity	mondo			bony tubercle|bony tubercles	http://purl.obolibrary.org/obo/UBERON_0017163	A bony structure embedded in skin, roughly equivalent to osteoderms.	
MONDO:0008329	autosomal dominant pseudohypoaldosteronism type 1	biolink:Disease	mondo	OMIM:177735|GARD:0009145|NCIT:C126810|DOID:0060855|UMLS:C1449842|Orphanet:171871|ICD10:N25.8	ordo_clinical_subtype|gard_rare	PHA I, autosomal dominant|renal pseudohypoaldosteronism type 1|autosomal dominant PHA 1|renal PHA1|pseudohypoaldosteronism, type I, autosomal dominant; PHA1A|pseudohypoaldosteronism type 1, dominant|PHA1A|autosomal dominant pseudohypoaldosteronism type 1|pseudohypoaldosteronism type 1 autosomal dominant|pseudohypoaldosteronism, type I, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008329	Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney.	ORPHA:171871|UMLS:C1449842|http://identifiers.org/omim/177735|NCIT:C126810|DOID:0060855
MONDO:0008328	glaucoma 1, open angle, P	biolink:Disease	mondo	UMLS:C3888338|OMIM:177700		glaucoma 1, open angle, P; GLC1P|glaucoma 1, open angle, type P|glaucoma 1, open angle, P|GLC1P	http://purl.obolibrary.org/obo/MONDO_0008328		UMLS:C3888338|http://identifiers.org/omim/177700
UBERON:5101463	manual digit 1 digitopodial skeleton	biolink:AnatomicalEntity	mondo			manual digit 1|manual digit I digitopodial skeleton|manual digit 1 skeleton	http://purl.obolibrary.org/obo/UBERON_5101463	A subdivision of the skeleton of the autopod consisting of the phalanges of manual digit 1 plus the associated metapodial element.	
MONDO:0008327	exfoliation syndrome	biolink:Disease	mondo	COHD:437273|MESH:D017889|UMLS:C0206368|OMIM:177650|NCIT:C129025|ICD9:365.52|EFO:0004235|DOID:13641|SCTID:111514006		Pseudoexfoliation syndrome|exfoliation glaucoma|exfoliation syndrome; XFS|XFS|Pseudoexfoliation of the lens|exfoliation syndrome|Pseudoexfoliation glaucoma|XFG	http://purl.obolibrary.org/obo/MONDO_0008327	An autosomal dominant disorder caused by mutations in the LOXL1 gene, encoding lysyl oxidase homolog 1. The condition is characterized by abnormal fibrillar extracellular material in anterior segment tissues, and may lead to glaucoma.	NCIT:C129025|UMLS:C0206368|http://identifiers.org/omim/177650|DOID:13641|SNOMEDCT:111514006|MESH:D017889
UBERON:0005181	thoracic segment organ	biolink:AnatomicalEntity	mondo			upper body organ	http://purl.obolibrary.org/obo/UBERON_0005181	An organ that part of the thoracic segment region. This region can be further subdividied chest and thoracic cavity regions.	
MONDO:0011956	AUTS3	biolink:Disease	mondo	OMIM:608049	predisposition	autism, susceptibility to, 3|AUTS3|autism, susceptibility to, 3; AUTS3	http://purl.obolibrary.org/obo/MONDO_0011956		http://identifiers.org/omim/608049
MONDO:0008326	pseudocholinesterase, increase in plasma level of	biolink:Disease	mondo	OMIM:177600		pseudocholinesterase, increase in plasma level OF	http://purl.obolibrary.org/obo/MONDO_0008326		http://identifiers.org/omim/177600
MONDO:0011957	retinal macular dystrophy type 2	biolink:Disease	mondo	ICD10:H35.5|Orphanet:319640|MESH:C562746|OMIM:608051	ordo_disease	MCDR2|macular dystrophy, retinal, 2; MCDR2|macular dystrophy, retinal, type 2|macular dystrophy, retinal, 2	http://purl.obolibrary.org/obo/MONDO_0011957	Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages.	MESH:C562746|ORPHA:319640|http://identifiers.org/omim/608051
NCBITaxon:28211	Alphaproteobacteria	organism taxon	mondo	PMID:11837318|GC_ID:11|PMID:16166687|PMID:16403855|PMID:11541974|PMID:19060069		Purple bacteria, alpha subdivision|alpha subdivision|alpha proteobacteria|Alphabacteria|Proteobacteria alpha subdivision|alpha subgroup|a-proteobacteria	http://purl.obolibrary.org/obo/NCBITaxon_28211		
MONDO:0008325	Pseudoatrophoderma colli	biolink:Disease	mondo	MESH:C562909|OMIM:177350|UMLS:C0406561|SCTID:238840009		Pseudoatrophoderma colli	http://purl.obolibrary.org/obo/MONDO_0008325		UMLS:C0406561|http://identifiers.org/omim/177350|SNOMEDCT:238840009|MESH:C562909
FOODON:03400172	prepared food product (us cfr)	biolink:OntologyClass	mondo	http://www.langual.org/langual_thesaurus.asp?termid=A0172			http://purl.obolibrary.org/obo/FOODON_03400172	Food product that is 1) ready or nearly ready for consumption; 2) usually a composite of several foods or ingredients that often belong to distinct product types; 3) usually formulated, mixed and partially or fully cooked. Prepared foods often undergo several of the processes listed in *F. EXTENT OF HEAT TREATMENT* and *H. TREATMENT APPLIED*; these factors should be carefully considered in indexing. The classification of prepared food products emphasizes consumption characteristics. [FDA CFSAN 1995]	
MONDO:0011954	CMM4	biolink:Disease	mondo	OMIM:608035	predisposition	melanoma, cutaneous malignant, susceptibility to, 4|melanoma, cutaneous malignant, susceptibility to, 4; CMM4|CMM4	http://purl.obolibrary.org/obo/MONDO_0011954		http://identifiers.org/omim/608035
MONDO:0008324	pseudoarthrogryposis	biolink:Disease	mondo	OMIM:177300|MESH:C566753|UMLS:C1867485		hereditary congenital rigidity of elbows and knees|pseudoarthrogryposis|ankylosis at elbow and knee	http://purl.obolibrary.org/obo/MONDO_0008324		MESH:C566753|http://identifiers.org/omim/177300|UMLS:C1867485
MONDO:0011955	diabetes mellitus, noninsulin-dependent, 4	biolink:Disease	mondo	UMLS:C1842642|MESH:C564299|OMIM:608036		noninsulin-dependent diabetes mellitus 4|diabetes mellitus, noninsulin-dependent, type 4|diabetes mellitus, noninsulin-dependent, 4|Niddm4	http://purl.obolibrary.org/obo/MONDO_0011955		MESH:C564299|UMLS:C1842642|http://identifiers.org/omim/608036
MONDO:0008323	Liddle syndrome	biolink:Disease	mondo	ICD10:I15.1|GARD:0007381|OMIMPS:177200|MedDRA:10037113|DOID:0050477|SCTID:707747007|MedDRA:10052313|NCIT:C84827|Orphanet:526|MESH:D056929|UMLS:C0221043	ordo_disease|gard_rare	Liddle syndrome; LIDLS|Liddle syndrome|Liddle's syndrome|pseudohyperaldosteronism type 1|pseudoaldosteronism|LIDLS	http://purl.obolibrary.org/obo/MONDO_0008323	Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone.	MEDDRA:10052313|MESH:D056929|ORPHA:526|DOID:0050477|http://identifiers.org/omim/177200|UMLS:C0221043|SNOMEDCT:707747007|NCIT:C84827|MEDDRA:10037113
MONDO:0008322	pseudoachondroplasia	biolink:Disease	mondo	ICD9:756.9|NCIT:C118635|ICD10:Q77.8|OMIM:177170|DOID:0080047|MESH:C535819|GARD:0004540|Orphanet:750|UMLS:C0410538|SCTID:22567005	ordo_disease|gard_rare	pseudoachondroplasia|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome|pseudoachondroplasia; PSACH|Pseudoachondroplastic dysplasia|spondyloepiphyseal dysplasia, Pseudoachondroplastic|spondyloepiphyseal dysplasia, PSEUDOACHONDROPLASTIC|PSACH|Pseudoachondroplastic spondyloepiphyseal dysplasia|pseudoachondroplastic dysplasia	http://purl.obolibrary.org/obo/MONDO_0008322	Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.	NCIT:C118635|DOID:0080047|UMLS:C0410538|http://identifiers.org/omim/177170|ORPHA:750|MESH:C535819|SNOMEDCT:22567005
MONDO:0008321	pruritus, hereditary localized	biolink:Disease	mondo	OMIM:177100|UMLS:C1867499|MESH:C566754		pruritus, hereditary localized	http://purl.obolibrary.org/obo/MONDO_0008321		MESH:C566754|http://identifiers.org/omim/177100|UMLS:C1867499
MONDO:0008320	Protrusio acetabuli (disease)	biolink:Disease	mondo	OMIM:177050|HP:0003179|SCTID:59606006		PROTRUSIO acetabuli|Protrusio acetabuli	http://purl.obolibrary.org/obo/MONDO_0008320		http://identifiers.org/omim/177050|SNOMEDCT:59606006
MONDO:0011958	bile and pancreatic ducts, complete absence of	biolink:Disease	mondo	OMIM:608063|MESH:C564298		bile and pancreatic ducts, complete absence of	http://purl.obolibrary.org/obo/MONDO_0011958		MESH:C564298|http://identifiers.org/omim/608063
MONDO:0011959	sweet syndrome	biolink:Disease	mondo	MESH:D016463|ICD9:702.8|Orphanet:3243|ICD10:L98.2|MedDRA:10000748|OMIM:608068|GARD:0000521|UMLS:C0085077|SCTID:84625002|NCIT:C85177	ordo_disease	neutrophilic dermatosis, acute febrile|Gomm button disease|acute febrile neutrophilic dermatosis|Afnd|sweet syndrome|Gomm-button disease	http://purl.obolibrary.org/obo/MONDO_0011959	Sweet's syndrome (the eponym for acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques), and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis.	SNOMEDCT:84625002|NCIT:C85177|MESH:D016463|ORPHA:3243|UMLS:C0085077|MEDDRA:10000748|http://identifiers.org/omim/608068
HGNC:3495	ETV6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3495		
MONDO:0011960	schizophrenia 11	biolink:Disease	mondo	DOID:0070087|UMLS:C1842605|OMIM:608078		Sczd11|schizophrenia type 11|SCZD11|schizophrenia susceptibility locus, chromosome 10Q-related|schizophrenia 11	http://purl.obolibrary.org/obo/MONDO_0011960	A schizophrenia that has material basis in a mutation on chromosome 10q22.3.	UMLS:C1842605|DOID:0070087|http://identifiers.org/omim/608078
NCBITaxon:28216	Betaproteobacteria	organism taxon	mondo	PMID:28581923|GC_ID:11|PMID:16403855		b-proteobacteria|beta subgroup|beta subdivision|Purple bacteria, beta subdivision|Proteobacteria beta subdivision|beta proteobacteria	http://purl.obolibrary.org/obo/NCBITaxon_28216		
MONDO:0011963	Joubert syndrome 2	biolink:Disease	mondo	DOID:0110988|GARD:0010167|UMLS:C1842577|MESH:C536294|OMIM:608091	gard_rare	JBTS2|Joubert syndrome type 2|Joubert syndrome caused by mutation in TMEM216|Joubert syndrome 2|cerebellooculorenal syndrome 2|Cerebellooculorenal syndrome 2|CORS2|TMEM216 Joubert syndrome|Joubert syndrome 2; JBTS2	http://purl.obolibrary.org/obo/MONDO_0011963	Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM216 gene.	UMLS:C1842577|DOID:0110988|http://identifiers.org/omim/608091|MESH:C536294
UBERON:0005185	renal medulla collecting duct	biolink:AnatomicalEntity	mondo			kidney medulla collecting duct|medullary collecting duct	http://purl.obolibrary.org/obo/UBERON_0005185	The portion of the collecting duct that resides in the renal medulla	
MONDO:0011964	DPAGT1-CDG	biolink:Disease	mondo	DOID:0080562|ICD10:E77.8|GARD:0009837|SCTID:725079003|UMLS:C2931004|MESH:C535748|NCIT:C126874|Orphanet:86309|OMIM:608093	ordo_disease	carbohydrate deficient glycoprotein syndrome type Ij|CDG-Ij|congenital disorder of glycosylation, type Ij|CDG 1J|congenital disorder of glycosylation, type Ij; CDG1J|DPAGT1-CDG (CDG-Ij)|CDG syndrome type Ij|congenital disorder of glycosylation type Ij|CDG Ij|CDG1J|dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency|CDGIj|congenital disorder of glycosylation type 1j	http://purl.obolibrary.org/obo/MONDO_0011964	DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).	MESH:C535748|UMLS:C2931004|NCIT:C126874|SNOMEDCT:725079003|http://identifiers.org/omim/608093|ORPHA:86309|DOID:0080562
UBERON:0005184	hair medulla	biolink:AnatomicalEntity	mondo			medulla of hair shaft	http://purl.obolibrary.org/obo/UBERON_0005184	Innermost layer of the hair shaft.	
MONDO:0011961	hereditary sensory and autonomic neuropathy type 1B	biolink:Disease	mondo	Orphanet:139564|PMID:12870133|MESH:C564296|SCTID:717825008|PMID:16311270|UMLS:C1842586|UMLS:C4303567|ICD10:G60.8|DOID:0070148|OMIM:608088	ordo_disease	hereditary sensory neuropathy type 1B|neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux|hereditary sensory neuropathy type IB|HSAN with cough and gastroesophageal reflux|hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux|hereditary sensory and autonomic neuropathy type IB|neuropathy, hereditary sensory and autonomic, type 1B|HSAN1B|neuropathy, hereditary sensory, type 1B	http://purl.obolibrary.org/obo/MONDO_0011961	Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR).	UMLS:C4303567|MESH:C564296|UMLS:C1842586|ORPHA:139564|DOID:0070148|SNOMEDCT:717825008|http://identifiers.org/omim/608088
MONDO:0011962	endometrial cancer	biolink:Disease	mondo	GARD:0011981|ICD10:C54.1|DOID:1380|EFO:0004230|KEGG:05213|NCIT:C27815|OMIM:608089		endometrial cancer|endometrium cancer|primary malignant neoplasm of endometrium|malignant endometrium neoplasm|malignant endometrial neoplasm|endometrial Ca|cancer of endometrium|endometrial neoplasm|malignant neoplasm of endometrium|tumor of endometrium|neoplasm of endometrium	http://purl.obolibrary.org/obo/MONDO_0011962	Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity).	DOID:1380|NCIT:C27815|http://identifiers.org/omim/608089
HGNC:3498	MECOM	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3498		
HGNC:3497	EVC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3497		
HGNC:16068	PCNT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16068		
MONDO:0011945	Gaucher disease perinatal lethal	biolink:Disease	mondo	OMIM:608013|GARD:0010675|UMLS:C1842704|Orphanet:85212|DOID:0110960|ICD10:E75.2|MESH:C564306	ordo_clinical_subtype|gard_rare	Gaucher's disease perinatal lethal|perinatal lethal Gaucher disease|Gaucher disease, collodion type|Gaucher disease, perinatal-lethal form|fetal Gaucher disease|Gaucher disease, perinatal lethal|Gaucher disease perinatal lethal|Gaucher disease collodion type	http://purl.obolibrary.org/obo/MONDO_0011945	Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD).	ORPHA:85212|MESH:C564306|UMLS:C1842704|DOID:0110960|http://identifiers.org/omim/608013
MONDO:0011946	diaphanospondylodysostosis	biolink:Disease	mondo	SCTID:721094006|ICD10:Q78.8|UMLS:C1842691|OMIM:608022|Orphanet:66637|MESH:C564305	ordo_malformation_syndrome	vertebral ossification, defect in, with nephrogenic rests|diaphanospondylodysostosis	http://purl.obolibrary.org/obo/MONDO_0011946	Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.	http://identifiers.org/omim/608022|MESH:C564305|UMLS:C1842691|ORPHA:66637|SNOMEDCT:721094006
MONDO:0011943	systemic lupus erythematosus with nephritis, susceptibility to, 2	biolink:Disease	mondo	OMIM:607966	predisposition	systemic lupus erythematosus with nephritis, susceptibility to, 2|SLEN2|systemic lupus erythematosus with nephritis, susceptibility to, 2; SLEN2	http://purl.obolibrary.org/obo/MONDO_0011943		http://identifiers.org/omim/607966
MONDO:0011944	systemic lupus erythematosus with nephritis, susceptibility to, 3	biolink:Disease	mondo	OMIM:607967	predisposition	systemic lupus erythematosus with nephritis, susceptibility to, 3; SLEN3|systemic lupus erythematosus with nephritis, susceptibility to, 3|SLEN3	http://purl.obolibrary.org/obo/MONDO_0011944		http://identifiers.org/omim/607967
HGNC:28018	NIPAL4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28018		
MONDO:0011949	Thai symphalangism syndrome	biolink:Disease	mondo	MESH:C564303|GARD:0003557|UMLS:C1842679|OMIM:608028	gard_rare	Thai symphalangism syndrome	http://purl.obolibrary.org/obo/MONDO_0011949		http://identifiers.org/omim/608028|MESH:C564303|UMLS:C1842679
MONDO:0011947	HNP1	biolink:Disease	mondo	UMLS:C0848548|MESH:C563161|OMIM:608026		hypertensive nephropathy; HNP1|hypertensive nephropathy|HNP1	http://purl.obolibrary.org/obo/MONDO_0011947		http://identifiers.org/omim/608026|MESH:C563161|UMLS:C0848548
MONDO:0011948	pontocerebellar hypoplasia type 3	biolink:Disease	mondo	MESH:C548072|SCTID:718609003|UMLS:C1842687|GARD:0010708|ICD10:Q04.3|DOID:0060272|Orphanet:97249|OMIM:608027	gard_rare|ordo_malformation_syndrome	pontocerebellar hypoplasia, type 3; PCH3|PCH3|clam|Pch with optic atrophy|pontocerebellar hypoplasia, type 3|cerebellar atrophy with progressive microcephaly|PCLO non-syndromic pontocerebellar hypoplasia|PCH with optic atrophy|non-syndromic pontocerebellar hypoplasia caused by mutation in PCLO|PCH without dyskinesia	http://purl.obolibrary.org/obo/MONDO_0011948	Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.	http://identifiers.org/omim/608027|SNOMEDCT:718609003|MESH:C548072|ORPHA:97249|UMLS:C1842687|DOID:0060272
UBERON:0005178	thoracic cavity element	biolink:AnatomicalEntity	mondo			thoracic cavity organ	http://purl.obolibrary.org/obo/UBERON_0005178	An organ or element that is in the thoracic cavity. Examples: lung, heart, longus colli.	
HGNC:31670	ENO4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/31670		
UBERON:0005177	trunk region element	biolink:AnatomicalEntity	mondo			trunk organ	http://purl.obolibrary.org/obo/UBERON_0005177	An organ or element that part of the trunk region. The trunk region can be further subdividied into thoracic (including chest and thoracic cavity) and abdominal (including abdomen and pelbis) regions.	
UBERON:0005176	tooth enamel organ	biolink:AnatomicalEntity	mondo			organum enameleum|dental organ|enamel organ|odontogenic organ	http://purl.obolibrary.org/obo/UBERON_0005176	A circumscribed mass of ectodermal cells which bud off from the dental lamina; it becomes cup-shaped and develops on its internal face the ameloblast layer of cells that produces the enamel cap of a developing tooth.	
UBERON:0005175	chest organ	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005175	An organ that is part of a chest [Automatically generated definition].	
MONDO:0011952	amyotrophic lateral sclerosis type 7	biolink:Disease	mondo	MESH:C564300|DOID:0060199|OMIM:608031|UMLS:C1842674|GARD:0010500	gard_rare	amyotrophic lateral sclerosis 7; ALS7|ALS7|amyotrophic lateral sclerosis 7	http://purl.obolibrary.org/obo/MONDO_0011952		MESH:C564300|UMLS:C1842674|DOID:0060199|http://identifiers.org/omim/608031
UBERON:0005174	dorsal region element	biolink:AnatomicalEntity	mondo			dorsal region organ|back organ	http://purl.obolibrary.org/obo/UBERON_0005174	An organ or element that part of the dorsum of the organism. Examples: spinal cord, vertebrae, muscles of back.	
MONDO:0011953	familial acute necrotizing encephalopathy	biolink:Disease	mondo	Orphanet:88619|OMIM:608033|GARD:0013232|UMLS:C4509836|SCTID:723359002	predisposition|ordo_disease	susceptibility to acute infection-induced encephalopathy-3|acute necrotizing encephalopathy type 1|ANE1|susceptibility to infection-induced acute encephalopathy 3|infection-induced acute encephalopathy 3|encephalopathy, acute necrotizing, susceptibility to|IIAE3|recurrent acute necrotizing encephalopathy|encephalopathy, acute, infection-induced, susceptibility to, 3; IIAE3|ADANE|encephalopathy, acute, infection-induced, susceptibility to, type 3|susceptibility to acute necrotizing encephalopathy|Postinfectious acute necrotizing hemorrhagic encephalopathy|autosomal dominant acute necrotizing encephalopathy|encephalopathy, acute, infection-induced, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0011953	Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen.	SNOMEDCT:723359002|UMLS:C4509836|ORPHA:88619|http://identifiers.org/omim/608033
UBERON:0005173	abdominal segment element	biolink:AnatomicalEntity	mondo			abdominal segment organ	http://purl.obolibrary.org/obo/UBERON_0005173	An organ or element that is part of the adbominal segment of the organism. This region can be further subdivided into the abdominal cavity and the pelvic region.	
MONDO:0011950	infantile-onset autosomal recessive nonprogressive cerebellar ataxia	biolink:Disease	mondo	MESH:C537312|UMLS:C1842676|ICD10:G11.0|DOID:0111617|Orphanet:284332|OMIM:608029|GARD:0004954	ordo_disease	autosomal recessive spinocerebellar ataxia type 6|spinocerebellar ataxia, autosomal recessive 6|SCAR6|cerebellar ataxia, infantile nonprogressive, autosomal recessive|spinocerebellar ataxia autosomal recessive 6|spinocerebellar ataxia, autosomal recessive 6; SCAR6|Norwegian infantile onset ataxia|cerebellar ataxia infantile nonprogressive autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0011950		DOID:0111617|UMLS:C1842676|http://identifiers.org/omim/608029|MESH:C537312|ORPHA:284332
UBERON:0005172	abdomen element	biolink:AnatomicalEntity	mondo			abdomen organ	http://purl.obolibrary.org/obo/UBERON_0005172	An organ or element that is in the abdomen. Examples: spleen, intestine, kidney, abdominal mammary gland.	
MONDO:0011951	amyotrophic lateral sclerosis type 6	biolink:Disease	mondo	MESH:C567699|DOID:0060198|GARD:0009874|OMIM:608030	gard_rare	FUS amyotrophic lateral sclerosis|autosomal recessive amyotrophic lateral sclerosis 6|amyotrophic lateral sclerosis caused by mutation in FUS|amyotrophic lateral sclerosis 6 with or without frontotemporal dementia|ALS6|amyotrophic lateral sclerosis 6, with or without frontotemporal dementia|amyotrophic lateral sclerosis 6 with or without frontotemporal dementia; ALS6	http://purl.obolibrary.org/obo/MONDO_0011951	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FUS gene.	DOID:0060198|http://identifiers.org/omim/608030|MESH:C567699
UBERON:0005171	hepatic duct	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005171	Any portion of the ducts that carry bile from the liver to the common bile duct. This may include both intrahapetic components (parts of left and right hepatic ducts) and extrahapetic components (common hepatic duct, plus hilar portion).	
UBERON:5101466	pedal digit digitopodial skeleton	biolink:AnatomicalEntity	mondo			pedal digit skeleton|pedal digit	http://purl.obolibrary.org/obo/UBERON_5101466	A subdivision of the skeleton of the autopod consisting of the phalanges of pedal digit plus the associated metapodial element.	
MONDO:0033304	nonsyndromic deafness, Y-linked	biolink:Disease	mondo	OMIMPS:400043			http://purl.obolibrary.org/obo/MONDO_0033304		
HGNC:31673	GRXCR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/31673		
HGNC:16035	STRC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16035		
UBERON:0005179	pelvic region element	biolink:AnatomicalEntity	mondo			pelvic element|pelvis region organ|pelvis organ	http://purl.obolibrary.org/obo/UBERON_0005179	An organ or element that is part of the pelvic region. Examples: reproductive organs (in some organisms), urinary bladder, bones of the pelvis.	
MONDO:0008309	primary release disorder of platelets	biolink:Disease	mondo	UMLS:C1867770|MESH:C566759|OMIM:176630|GARD:0010357	gard_rare	bleeding disorder due to primary defects in platelet release mechanism|primary release disorder of platelets	http://purl.obolibrary.org/obo/MONDO_0008309		MESH:C566759|UMLS:C1867770|http://identifiers.org/omim/176630
MONDO:0033309	Joubert syndrome 32	biolink:Disease	mondo	UMLS:CN596207|OMIM:617757|DOID:0080278		Joubert syndrome 32; JBTS32|JBTS32	http://purl.obolibrary.org/obo/MONDO_0033309		UMLS:CN596207|http://identifiers.org/omim/617757|DOID:0080278
MONDO:0033308	Joubert syndrome 30	biolink:Disease	mondo	DOID:0080275|OMIM:617622		JBTS30|Joubert syndrome 30; JBTS30	http://purl.obolibrary.org/obo/MONDO_0033308		http://identifiers.org/omim/617622|DOID:0080275
MONDO:0008308	priapism, familial idiopathic	biolink:Disease	mondo	OMIM:176620|GARD:0010016|MESH:C531791|UMLS:C1867771		priapism, familial idiopathic|familial idiopathic priapism	http://purl.obolibrary.org/obo/MONDO_0008308		MESH:C531791|UMLS:C1867771|http://identifiers.org/omim/176620
MONDO:0008307	presenile dementia, Kraepelin type	biolink:Disease	mondo	UMLS:C1867772|OMIM:176600|MESH:C535273|GARD:0010032	gard_rare	Kraepelin disease|catatonia of Kraepelin|presenile dementia, Kraepelin type	http://purl.obolibrary.org/obo/MONDO_0008307		MESH:C535273|UMLS:C1867772|http://identifiers.org/omim/176600
MONDO:0008306	ABri amyloidosis	biolink:Disease	mondo	GARD:0008344|ICD10:I68.0*|DOID:0070029|MESH:C538208|OMIM:176500|UMLS:C1867773|ICD10:E85.4+|Orphanet:97345	ordo_clinical_subtype|gard_rare	ABri amyloidosis|FBD|Bri amyloidosis|familial dementia, British type|dementia, familial British|ITM2B-related cerebral amyloid angiopathy 1|familial British dementia|cerebral amyloid angiopathy, British type|dementia familial British|presenile dementia with spastic ataxia|cerebral amyloid angiopathy, ITM2B-RELATED, 1|cerebral amyloid angiopathy, ITM2B-related, type 1	http://purl.obolibrary.org/obo/MONDO_0008306	A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2.	DOID:0070029|MESH:C538208|ORPHA:97345|UMLS:C1867773|http://identifiers.org/omim/176500
MONDO:0008305	Currarino triad	biolink:Disease	mondo	UMLS:C1531773|Orphanet:1552|OMIM:176450|GARD:0001626|SCTID:413936007|MESH:C536221|ICD10:Q87.8|DOID:0111546|ICD9:759.89	ordo_malformation_syndrome	Scra1|Currarino syndrome|sacral agenesis syndrome|partial sacral agenesis with intact first sacral vertebra, presacral mass and anorectal malformation|Currarino triad|CURRARINO syndrome|sacral agenesis, hereditary, with presacral Mass, anterior meningocele, and/or teratoma, and anorectal malformation	http://purl.obolibrary.org/obo/MONDO_0008305	Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae).	UMLS:C1531773|ORPHA:1552|MESH:C536221|SNOMEDCT:413936007|DOID:0111546|http://identifiers.org/omim/176450
MONDO:0008304	premature chromatid separation trait	biolink:Disease	mondo	EFO:0009077|UMLS:C1864389|OMIM:176430		premature chromatid separation trait|total premature chromatid separation trait|premature chromatid separation trait; PCS|PCS	http://purl.obolibrary.org/obo/MONDO_0008304		UMLS:C1864389|http://identifiers.org/omim/176430
MONDO:0011934	dermatofibrosarcoma protuberans	biolink:Disease	mondo	ICDO:8832/3|Orphanet:31112|NCIT:C4683|GARD:0009569|SCTID:276799004|ONCOTREE:DFSP|ICD10:C49.9|MESH:D018223|OMIM:607907|UMLS:C0392784|MedDRA:10057070|DOID:3507	gard_rare|ordo_disease	DFSP|dermatofibrosarcoma|dermatofibrosarcoma protuberans; DFSP|metastatic dermatofibrosarcoma protuberans (subtype)|familial dermatofibrosarcoma protuberans (subtype)|dermatofibrosarcoma protuberans|giant cell fibroblastoma	http://purl.obolibrary.org/obo/MONDO_0011934	Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22).	UMLS:C0392784|MESH:C538219|ORPHA:31112|http://identifiers.org/omim/607907|MEDDRA:10057070|DOID:3507|MESH:D018223|SNOMEDCT:276799004|NCIT:C4683
PATO:0001402	multipotent	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0001402	A cellular potency that is the capacity to form multiple differentiated cell types.	
MONDO:0008303	familial male-limited precocious puberty	biolink:Disease	mondo	GARD:0004475|UMLS:C1504412|Orphanet:3000|MedDRA:10063656|ICD10:E30.1|DOID:0111545|MedDRA:10063654|OMIM:176410|SCTID:237818003	ordo_disease	precocious puberty, male-limited|peripheral precocious puberty caused by mutation in LHCGR|sexual precocity, familial, gonadotropin-independent|familial gonadotropin-independent male-limited sexual precocity|testotoxicosis|testotoxicosis, familial|FMPP|precocious puberty, male limited|male-limited precocious puberty|LHCGR peripheral precocious puberty|familial Testotoxicosis (subtype)|Leydig cell adenoma, somatic, with male-limited precocious puberty|pubertas praecox	http://purl.obolibrary.org/obo/MONDO_0008303	Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height.	SNOMEDCT:237818003|UMLS:C1504412|ORPHA:3000|DOID:0111545|MEDDRA:10063656|MEDDRA:10063654|UMLS:C0342549|MESH:C536961|http://identifiers.org/omim/176410
MONDO:0011935	retinitis pigmentosa 30	biolink:Disease	mondo	ICD10:H35.5|UMLS:C1842816|OMIM:607921|GARD:0010401|DOID:0110406		RP 30|retinitis pigmentosa type 30|retinitis pigmentosa 30; RP30|RP30|retinitis pigmentosa 30|macular Degeneration|retinitis pigmentosa caused by mutation in FSCN2|FSCN2 retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0011935	Any retinitis pigmentosa in which the cause of the disease is a mutation in the FSCN2 gene.	http://identifiers.org/omim/607921|DOID:0110406|UMLS:C1842816
HGNC:28027	WDPCP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28027		
MONDO:0008302	centra precocious puberty 1	biolink:Disease	mondo	UMLS:C3805879|OMIM:176400		central precocious puberty caused by mutation in KISS1R|precocious puberty, central, 1|precocious puberty, central, type 1|CPPB1|KISS1R central precocious puberty|precocious puberty, central, 1; CPPB1	http://purl.obolibrary.org/obo/MONDO_0008302	Any central precocious puberty in which the cause of the disease is a mutation in the KISS1R gene.	UMLS:C3805879|http://identifiers.org/omim/176400
MONDO:0011932	hypotrichosis 6	biolink:Disease	mondo	MESH:C564312|DOID:0110703|UMLS:C1842839|OMIM:607903		monilethrix-like hypotrichosis|hypotrichosis 6; HYPT6|hypotrichosis, localized, autosomal recessive 1|HYPT6|Lah1|hypotrichosis, localized, autosomal recessive|hypotrichosis 6|hypotrichosis type 6|monilethrix-like hypotrichosis|Htl|hypotrichosis caused by mutation in DSG4|DSG4 hypotrichosis|autosomal recessive localized hypotrichosis	http://purl.obolibrary.org/obo/MONDO_0011932	Any hypotrichosis in which the cause of the disease is a mutation in the DSG4 gene.	http://identifiers.org/omim/607903|MESH:C564312|UMLS:C1842839|DOID:0110703
PATO:0001400	unipotent	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0001400	A cellular potency that is the capacity to produce only one differentiated cell type.	
MONDO:0011933	ALG2-CDG	biolink:Disease	mondo	ICD10:E77.8|Orphanet:79326|DOID:0080561|GARD:0009836|OMIM:607906	ordo_disease	CDG1I|ALG2-CDG (CDG-II)|congenital disorder of glycosylation, type II; CDG1I|CDG syndrome type II|congenital disorder of glycosylation type II|CDG II|carbohydrate-deficient glycoprotein syndrome type 1I|CDG 1I|mannosyltransferase 2 deficiency|congenital disorder of glycosylation type 1i|carbohydrate deficient glycoprotein syndrome type II|CDG-II|congenital disorder of glycosylation, type II	http://purl.obolibrary.org/obo/MONDO_0011933	(9q31.1). Transmission is autosomal recessive.	DOID:0080561|http://identifiers.org/omim/607906|ORPHA:79326
PATO:0001401	oligopotent	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0001401	A cellular potency that is the capacity to form multiple differentiated cell types of a specific lineage and lack self renewing capacity.	
MONDO:0008301	Guttmacher syndrome	biolink:Disease	mondo	Orphanet:2957|GARD:0004470|ICD10:Q87.2|UMLS:C1867801|OMIM:176305|MESH:C538278|DOID:0111544|SCTID:722452004	ordo_malformation_syndrome	preaxial deficiency, postaxial polydactyly, and hypospadias|Guttmacher syndrome|autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias|preaxial deficiency-postaxial polydactyly-hypospadias syndrome|preaxial deficiency, postaxial polydactyly and hypospadias	http://purl.obolibrary.org/obo/MONDO_0008301	Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias.	MESH:C538278|ORPHA:2957|DOID:0111544|SNOMEDCT:722452004|http://identifiers.org/omim/176305|UMLS:C1867801
MONDO:0011938	atrial heart septal defect 2	biolink:Disease	mondo	MESH:C538263|UMLS:C1842778|ICD10:Q21.1|OMIM:607941|DOID:0110107		atrial heart septal defect type 2|ASD2|atrial heart septal defect caused by mutation in GATA4|atrial septal defect 2|atrial septal defect type 2|GATA4 atrial heart septal defect|atrial septal defect 2; ASD2	http://purl.obolibrary.org/obo/MONDO_0011938	Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA4 gene.	MESH:C538263|DOID:0110107|http://identifiers.org/omim/607941|UMLS:C1842778
MONDO:0008300	Prader-Willi syndrome	biolink:Disease	mondo	ICD10:Q87.1|NCIT:C75463|MedDRA:10036476|Orphanet:739|COHD:441963|OMIM:176270|ICD9:759.81|SCTID:89392001|UMLS:C0032897|MESH:D011218|DOID:11983|GARD:0005575	gard_rare|ordo_disease	Prader-Willi-Labhart syndrome|Willi-Prader syndrome|PWS|Prader-Willi-like syndrome associated with chromosome 6|Prader-Willi syndrome|Prader-Labhart-Willi syndrome|obesity, muscular hypotonia, intellectual disability, short stature, hypogonadotropic hypogonadism, and small hands and feet|Prader-Willi syndrome; PWS|Prader Willi syndrome|Prader-Willi syndrome chromosome region|obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet	http://purl.obolibrary.org/obo/MONDO_0008300	Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems.	UMLS:C0032897|MEDDRA:10036476|NCIT:C75463|MESH:D011218|ORPHA:739|http://identifiers.org/omim/176270|SNOMEDCT:89392001|DOID:11983
MONDO:0011939	Spondyloenchondrodysplasia with immune dysregulation	biolink:Disease	mondo	ICD10:Q77.7|MESH:C564307|SCTID:703523004|ICD9:756.9|Orphanet:50816|EFO:0002326|GARD:0004978|OMIM:607944|OMIM:271550|ICD9:759.89|UMLS:C1842763|Orphanet:1855	ordo_malformation_syndrome|gard_rare	combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia|SPENCD|spondyloenchondrodysplasia with immune dysregulation|spondylometaphyseal dysplasia with combined immunodeficiency|spondylometaphyseal dysplasia with enchondromatous changes|SPENCDI|spondyloenchondromatosis|spondyloenchondrodysplasia|Roifman Immunoskeletal syndrome|SEM	http://purl.obolibrary.org/obo/MONDO_0011939		ORPHA:50816|ORPHA:1855|SNOMEDCT:703523004|http://identifiers.org/omim/607944|MESH:C564307|UMLS:C0432222|UMLS:C1842763|MESH:C535782|http://identifiers.org/omim/271550
PATO:0001407	mononucleate	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0001407	A nucleate quality inhering in a bearer by virtue of the bearer's having one nucleus.	
PATO:0001404	nucleate quality	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0001404	A cellular quality inhering in a bearer by virtue of bearer's number of nuclei.	
MONDO:0011936	microphthalmia with brain and digit anomalies	biolink:Disease	mondo	OMIM:607932|ICD10:Q11.2|Orphanet:139471|SCTID:721878003|GARD:0003645|UMLS:C1864689|MESH:C566440|UMLS:C4303070	ordo_malformation_syndrome	microphthalmia syndromic 6|Bakrania-Ragge syndrome|anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia|microphthalmia, syndromic type 6|MCOPS6|microphthalmia and pituitary anomalies|microphthalmia, syndromic 6; MCOPS6|syndromic microphthalmia type 6|microphthalmia, syndromic 6|microphthalmia with brain and digit developmental anomalies|anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia	http://purl.obolibrary.org/obo/MONDO_0011936	Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.	MESH:C566440|UMLS:C4303070|http://identifiers.org/omim/607932|ORPHA:139471|UMLS:C1864689|SNOMEDCT:721878003
MONDO:0011937	peeling skin syndrome 4	biolink:Disease	mondo	UMLS:C1842797|OMIM:607936|UMLS:C4225407|MESH:C564309		ichthyosis bullosa of Siemens-like|CSTA peeling skin syndrome|peeling skin syndrome 4|peeling skin syndrome type 4|ichthyosis, exfoliative, autosomal recessive|peeling skin syndrome 4; PSS4|PSS4|peeling skin syndrome caused by mutation in CSTA	http://purl.obolibrary.org/obo/MONDO_0011937	Any peeling skin syndrome in which the cause of the disease is a mutation in the CSTA gene.	UMLS:C4225407|http://identifiers.org/omim/607936|MESH:C564309|UMLS:C1842797
PATO:0001405	anucleate	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0001405	A nucleate quality inhering in a bearer by virtue of the bearer's having no nucleus.	
MONDO:0011941	mycobacterium tuberculosis, susceptibility to, 1	biolink:Disease	mondo	OMIM:607949	predisposition	Mycobacterium tuberculosis, susceptibility to, type 1|mycobacterium tuberculosis, susceptibility to, 1|MTBS1	http://purl.obolibrary.org/obo/MONDO_0011941		http://identifiers.org/omim/607949
MONDO:0011942	systemic lupus erythematosus with nephritis, susceptibility to, 1	biolink:Disease	mondo	OMIM:607965	predisposition	systemic lupus erythematosus with nephritis, susceptibility to, 1|SLEN1|systemic lupus erythematosus with nephritis, susceptibility to, 1; SLEN1	http://purl.obolibrary.org/obo/MONDO_0011942		http://identifiers.org/omim/607965
UBERON:0005162	multi cell part structure	biolink:AnatomicalEntity	mondo			cell part cluster|multi-cell-part structure|multi-cell-component structure	http://purl.obolibrary.org/obo/UBERON_0005162	A structure consisting of multiple cell components but which is not itself a cell and does not have (complete) cells as a part.	
MONDO:0011940	mycobacterium tuberculosis, susceptibility to	biolink:Disease	mondo	MESH:C536092|GARD:0002456|OMIM:607948	predisposition|gard_rare	Mycobacterium tuberculosis, protection against|Mycobacterium tuberculosis, susceptibility to infection by|mycobacterium tuberculosis, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0011940		MESH:C536092|http://identifiers.org/omim/607948
UBERON:0005160	vestigial structure	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005160	A remnant structure from earlier development or evolution.	
NCBITaxon:55872	Dracunculoidea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_55872		
MONDO:0033312	schizophrenia 19	biolink:Disease	mondo	DOID:0080281|UMLS:CN404275|OMIM:617629		SCZD19|schizophrenia 19; SCZD19|schizophrenia 19 with or without an affective disorder	http://purl.obolibrary.org/obo/MONDO_0033312		DOID:0080281|UMLS:CN404275|http://identifiers.org/omim/617629
MONDO:0033311	Joubert syndrome 33	biolink:Disease	mondo	OMIM:617767|DOID:0080279|UMLS:CN601375		Joubert syndrome 33; JBTS33|JBTS33	http://purl.obolibrary.org/obo/MONDO_0033311		DOID:0080279|http://identifiers.org/omim/617767|UMLS:CN601375
MONDO:0033310	Joubert syndrome 31	biolink:Disease	mondo	DOID:0080277|OMIM:617761		JBTS31|Joubert syndrome 31; JBTS31	http://purl.obolibrary.org/obo/MONDO_0033310		DOID:0080277|http://identifiers.org/omim/617761
UBERON:0005169	interstitial tissue	biolink:AnatomicalEntity	mondo			interstitium	http://purl.obolibrary.org/obo/UBERON_0005169	connective tissue between the cellular elements of a structure.	
MONDO:0021331	carcinoma of parotid gland	biolink:Disease	mondo	UMLS:C0345602|SCTID:254462001|EFO:1000460|NCIT:C6791		carcinoma of parotid gland|parotid carcinoma|parotid gland cancer|carcinoma of the parotid gland|carcinoma of the parotid|parotid gland carcinoma|carcinoma of parotid	http://purl.obolibrary.org/obo/MONDO_0021331	A carcinoma that involves the parotid gland.	SNOMEDCT:254462001|UMLS:C0345602|NCIT:C6791
MONDO:0021333	carcinoma of lip	biolink:Disease	mondo	UMLS:C0149637|SCTID:269515006|NCIT:C3490		carcinoma of lip|lip cancer|carcinoma of the Lip|lip carcinoma	http://purl.obolibrary.org/obo/MONDO_0021333	A carcinoma that involves the lip.	UMLS:C0149637|NCIT:C3490|SNOMEDCT:269515006
MONDO:0021334	immunoproliferative disorder	biolink:Disease	mondo	ICD9:203.80|MESH:D007160|SCTID:127071007|UMLS:C0021070		Disorders, Immunoproliferative|Immunoproliferative disease|Immunoproliferative Disorder|immunoproliferative disorder|Immunoproliferative Disorders|Immunoproliferative disorder|Disorder, Immunoproliferative	http://purl.obolibrary.org/obo/MONDO_0021334	Disorders characterized by abnormal proliferation of primary cells of the immune system or by excessive production of immunoglobulins.	MESH:D007160|SNOMEDCT:127071007|UMLS:C0021070
HGNC:31648	MIR96	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/31648		
MONDO:0021335	carcinoma of duodenum	biolink:Disease	mondo	SCTID:254570009|NCIT:C4803		duodenal cancer|cancer of duodenum|cancer of the duodenum|carcinoma of the duodenum|carcinoma of duodenum|duodenal carcinoma|duodenum carcinoma	http://purl.obolibrary.org/obo/MONDO_0021335	A carcinoma that involves the duodenum.	SNOMEDCT:254570009|NCIT:C4803
MONDO:0008359	radio-renal syndrome	biolink:Disease	mondo	MESH:C536267|GARD:0000224|Orphanet:3015|OMIM:179280|SCTID:766765009|UMLS:C2931146	gard_rare|ordo_malformation_syndrome	radial-renal syndrome|radio renal syndrome	http://purl.obolibrary.org/obo/MONDO_0008359	Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983.	MESH:C536267|UMLS:C2931146|ORPHA:3015|SNOMEDCT:766765009|http://identifiers.org/omim/179280
MONDO:0008358	radial ray hypoplasia-choanal atresia syndrome	biolink:Disease	mondo	OMIM:179270|GARD:0004627|Orphanet:3026|SCTID:232373003	ordo_malformation_syndrome	radial ray hypoplasia and choanal atresia|Goldblatt-Viljoen syndrome|radial RAY hypoplasia with choanal atresia|radial ray hypoplasia choanal atresia	http://purl.obolibrary.org/obo/MONDO_0008358	Radial ray hypoplasia - choanal atresia is an extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus.	MESH:C536263|UMLS:C0339838|UMLS:C2931464|ORPHA:3026|SNOMEDCT:232373003|http://identifiers.org/omim/179270|MESH:C537280
MONDO:0008357	radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome	biolink:Disease	mondo	ICD10:Q87.2|SCTID:716092007|Orphanet:2252|OMIM:179250|MESH:C536262|GARD:0004626	ordo_malformation_syndrome|gard_rare	Schmitt-Gillenwater-Kelly syndrome|radial hypoplasia, triphalangeal thumbs and hypospadias|radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema	http://purl.obolibrary.org/obo/MONDO_0008357	Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.	UMLS:C1867397|UMLS:C2931274|ORPHA:2252|http://identifiers.org/omim/179250|SNOMEDCT:716092007|MESH:C536262
MONDO:0008356	radial heads, posterior dislocation of	biolink:Disease	mondo	MESH:C566728|OMIM:179200|UMLS:C1867398		radial heads, posterior dislocation of	http://purl.obolibrary.org/obo/MONDO_0008356		MESH:C566728|UMLS:C1867398|http://identifiers.org/omim/179200
MONDO:0008355	IHPS1	biolink:Disease	mondo	OMIM:179010|UMLS:C1867403		pyloric stenosis, infantile hypertrophic, 1; IHPS1|IHPS1|pyloric stenosis, infantile|pyloric stenosis, infantile hypertrophic, 1|pyloric stenosis, infantile hypertrophic	http://purl.obolibrary.org/obo/MONDO_0008355		UMLS:C1867403|http://identifiers.org/omim/179010
MONDO:0008354	purpura simplex	biolink:Disease	mondo	SCTID:277791008|UMLS:C0272309|ICD9:287.2|GARD:0007508|OMIM:179000|MESH:C536249		purpura simplex	http://purl.obolibrary.org/obo/MONDO_0008354		SNOMEDCT:277791008|UMLS:C0272309|http://identifiers.org/omim/179000|MESH:C536249
MONDO:0008353	pruritic urticarial papules and plaques of pregnancy	biolink:Disease	mondo	ICD9:692.9|MESH:C535817|OMIM:178995|GARD:0009635|SCTID:88697005|Orphanet:64745|ICD9:646.80|MedDRA:10066100|ICD10:O26.8	ordo_disease	polymorphic eruption of pregnancy|pruritic urticarial papules and plaques of pregnancy, familial (subtype)|PUPPP|pruritic urticarial papules plaques of pregnancy|pruritic urticarial papules and plaques of pregnancy|pruritic urticarial papules and plaques of pregnancy; PUPPP	http://purl.obolibrary.org/obo/MONDO_0008353		http://identifiers.org/omim/178995|MESH:C535817|ORPHA:64745|UMLS:C0269680|MEDDRA:10066100|SNOMEDCT:88697005
NCBITaxon:2508209	Tobaniviridae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2508209		
MONDO:0008352	pupillary membrane, persistence of	biolink:Disease	mondo	OMIM:178900|MESH:C562700		pupillary membrane, persistence of	http://purl.obolibrary.org/obo/MONDO_0008352		http://identifiers.org/omim/178900|MESH:C562700
GO:0043891	glyceraldehyde-3-phosphate dehydrogenase (NAD(P)+) (phosphorylating) activity	biolink:OntologyClass	mondo			triosephosphate dehydrogenase (NAD(P)+)|glyceraldehyde-3-phosphate dehydrogenase (NAD(P)) (phosphorylating)|NAD(P)-dependent glyceraldehyde-3-phosphate dehydrogenase activity|D-glyceraldehyde 3-phosphate:NAD(P)+ oxidoreductase (phosphorylating)|triosephosphate dehydrogenase (NAD(P))	http://purl.obolibrary.org/obo/GO_0043891	Catalysis of the reaction: D-glyceraldehyde 3-phosphate + phosphate + NAD(P)+ = 3-phospho-D-glyceroyl phosphate + NAD(P)H + H+.	
MONDO:0008351	pupil, egg-shaped	biolink:Disease	mondo	OMIM:178800|MESH:C566731|GARD:0008291	gard_rare	ovoid pupils|pupil, egg-shaped|egg shaped pupils	http://purl.obolibrary.org/obo/MONDO_0008351		MESH:C566731|http://identifiers.org/omim/178800
MONDO:0008350	pulmonic stenosis and deafness	biolink:Disease	mondo	UMLS:C1867406|OMIM:178651		pulmonic stenosis and deafness	http://purl.obolibrary.org/obo/MONDO_0008350		http://identifiers.org/omim/178651|UMLS:C1867406
MONDO:0021326	malignant neoplasm of cervical esophagus	biolink:Disease	mondo	SCTID:187722004|UMLS:C0496773|ICD9:150.0|NCIT:C4763		cervical part of esophagus cancer|malignant neoplasm of cervical part of esophagus|malignant cervical part of esophagus neoplasm|malignant neoplasm of the cervical esophagus|cancer of cervical part of esophagus	http://purl.obolibrary.org/obo/MONDO_0021326	A cancer that involves the cervical part of esophagus.	UMLS:C0496773|NCIT:C4763|SNOMEDCT:187722004
MONDO:0021327	carcinoma of urethra	biolink:Disease	mondo	SCTID:448954003|NCIT:C9106		urethra carcinoma|urethral carcinoma|urethral cancer|carcinoma of urethra|carcinoma of the urethra	http://purl.obolibrary.org/obo/MONDO_0021327	A carcinoma that involves the urethra.	NCIT:C9106|SNOMEDCT:448954003
MONDO:0021329	carcinoma of soft palate	biolink:Disease	mondo	NCIT:C8395|SCTID:254435009|UMLS:C0345555		carcinoma of the soft palate|carcinoma of soft palate|soft palate cancer|soft palate carcinoma	http://purl.obolibrary.org/obo/MONDO_0021329	A carcinoma that arises from the soft palate. The majority are squamous cell carcinomas.	SNOMEDCT:254435009|UMLS:C0345555|NCIT:C8395
HGNC:18674	DDX41	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18674		
HGNC:18672	CDK5RAP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18672		
FOODON:03400129	refined or partially-refined food product (us cfr)	biolink:OntologyClass	mondo	http://www.langual.org/langual_thesaurus.asp?termid=A0129			http://purl.obolibrary.org/obo/FOODON_03400129	Extract, concentrate or isolate derived from a food source through one or more refining steps (see *EXTRACT, CONCENTRATE OR ISOLATE OF PLANT OR ANIMAL*) and marketed as such. [FDA CFSAN 1995]	
MONDO:0021320	malignant tumor of floor of mouth	biolink:Disease	mondo	SCTID:363385007|NCIT:C9318|ICD9:144.9|ICD9:144.8		cancer of mouth floor|mouth floor cancer|malignant tumor of the floor of the mouth|malignant mouth floor neoplasm|malignant floor of mouth neoplasm|malignant neoplasm of the floor of the mouth|malignant neoplasm of mouth floor|malignant neoplasm of floor of mouth|malignant floor of the mouth neoplasm|malignant floor of the mouth tumor|malignant floor of mouth tumor	http://purl.obolibrary.org/obo/MONDO_0021320	A cancer that involves the mouth floor.	NCIT:C9318|SNOMEDCT:363385007
MONDO:0021321	malignant tumor of extrahepatic bile duct	biolink:Disease	mondo	ICD9:156.1|SCTID:363416002|UMLS:C0153453|ICD9:156.8|NCIT:C7483		malignant tumor of the extrahepatic bile duct|malignant extrahepatic bile duct neoplasm|malignant neoplasm of extrahepatic bile duct|cancer of extrahepatic bile duct|malignant neoplasm of the extrahepatic bile duct|malignant extrahepatic bile duct tumor|extrahepatic bile duct cancer	http://purl.obolibrary.org/obo/MONDO_0021321	A cancer that involves the extrahepatic bile duct.	UMLS:C0153453|NCIT:C7483|SNOMEDCT:363416002
FOODON:03412115	echinoderm	biolink:OntologyClass	mondo			Echinodermata Klein, 1734|Echinodermata	http://purl.obolibrary.org/obo/FOODON_03412115	Echinoderm is the common name given to any member of the phylum *Echinodermata* of marine animals. The adults are recognizable by their (usually five-point) radial symmetry, and include such well-known animals as sea stars, sea urchins, sand dollars, and sea cucumbers, as well as the sea lilies or "stone lilies". [https://en.wikipedia.org/wiki/Echinoderm]	
MONDO:0021322	malignant tumor of meninges	biolink:Disease	mondo	SCTID:363497007|UMLS:C0348375|NCIT:C4628		malignant neoplasm of meningeal cluster|meningeal cluster cancer|cancer of meninges|malignant meningeal cluster neoplasm|cancer of the meninges|malignant meningeal tumor|malignant tumor of the meninges|malignant meningeal neoplasms|malignant neoplasms of meninges|cancer of meningeal cluster|meningeal cancer|malignant meninges neoplasm|malignant neoplasm of meninges|meningeal tumors, malignant|malignant neoplasm of the meninges|malignant meninges tumor	http://purl.obolibrary.org/obo/MONDO_0021322	A cancer that involves the meningeal cluster.	UMLS:C0348375|NCIT:C4628|SNOMEDCT:363497007
FOODON:03412112	mollusc	biolink:OntologyClass	mondo			mollusk|Mollusca	http://purl.obolibrary.org/obo/FOODON_03412112	*Mollusca* is a large phylum of invertebrate animals whose members are known as molluscs or mollusks. Molluscs are the largest marine phylum, comprising about 23% of all the named marine organisms. Numerous molluscs also live in freshwater and terrestrial habitats. [https://en.wikipedia.org/wiki/Mollusca]	
MONDO:0021323	malignant neoplasm of chest wall	biolink:Disease	mondo	UMLS:C0346948|NCIT:C4580|SCTID:712750007		malignant chest wall tumor|malignant neoplasm of the chest wall|malignant neoplasm of chest wall|malignant tumor of chest wall|malignant chest wall neoplasm|malignant tumor of the chest wall|cancer of chest wall|chest wall cancer	http://purl.obolibrary.org/obo/MONDO_0021323	A cancer that involves the chest wall.	SNOMEDCT:712750007|NCIT:C4580|UMLS:C0346948
MONDO:0021324	malignant neoplasm of abdominal esophagus	biolink:Disease	mondo	SCTID:187724003|ICD9:150.2|NCIT:C4764|UMLS:C0496775		malignant neoplasm of abdominal part of esophagus|malignant neoplasm of the abdominal esophagus|abdominal part of esophagus cancer|cancer of abdominal part of esophagus|malignant tumor of the abdominal esophagus|malignant abdominal part of esophagus neoplasm	http://purl.obolibrary.org/obo/MONDO_0021324	A cancer that involves the abdominal part of esophagus.	NCIT:C4764|UMLS:C0496775|SNOMEDCT:187724003
MONDO:0021325	malignant neoplasm of thoracic esophagus	biolink:Disease	mondo	NCIT:C3532|ICD9:150.1|SCTID:187723009|UMLS:C0153411		malignant thoracic part of esophagus neoplasm|malignant neoplasm of the thoracic esophagus|cancer of thoracic part of esophagus|thoracic part of esophagus cancer|malignant neoplasm of thoracic part of esophagus	http://purl.obolibrary.org/obo/MONDO_0021325	A cancer that involves the thoracic part of esophagus.	UMLS:C0153411|NCIT:C3532|SNOMEDCT:187723009
MONDO:0008369	proximal renal tubular acidosis	biolink:Disease	mondo	Orphanet:47159|SCTID:24790002|OMIM:179830|MedDRA:10037080|ICD10:N25.8|ICD9:588.89	ordo_disease	renal tubular acidosis, proximal|RTA, rate type|Type 2 renal tubular acidosis|renal tubular acidosis type 2|pRTA|Type 2 RTA|renal tubular acidosis 2|RTA, proximal type	http://purl.obolibrary.org/obo/MONDO_0008369	Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis.	SNOMEDCT:24790002|ORPHA:47159|MEDDRA:10037080|http://identifiers.org/omim/179830
MONDO:0011998	autosomal dominant slowed nerve conduction velocity	biolink:Disease	mondo	ICD10:G60.0|SCTID:764854006|MESH:C564269|Orphanet:140481|OMIM:608236|UMLS:C1842357	ordo_disease	slowed nerve conduction velocity, autosomal dominant; SNCV|slowed nerve conduction velocity, autosomal dominant|SNCV	http://purl.obolibrary.org/obo/MONDO_0011998	Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.	SNOMEDCT:764854006|ORPHA:140481|http://identifiers.org/omim/608236|UMLS:C1842357|MESH:C564269
MONDO:0008368	autosomal dominant distal renal tubular acidosis	biolink:Disease	mondo	Orphanet:93608|OMIM:179800|GARD:0004668|ICD10:N25.8	ordo_clinical_subtype	autosomal dominant SLC4A1-associated distal renal tubular acidosis|distal renal tubular acidosis (disease), autosomal dominant|RTA, distal type, autosomal dominant|renal tubular acidosis 1|RTA, classic type|AD dRTA|renal tubular acidosis, distal, autosomal dominant|RTA, gradient type|autosomal dominant distal renal tubular acidosis (disease)	http://purl.obolibrary.org/obo/MONDO_0008368	Autosomal dominant distal renal tubular acidosis (AD dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia.	UMLS:C2931885|ORPHA:93608|MESH:C538565|http://identifiers.org/omim/179800
MONDO:0008367	red cell phospholipid defect with hemolysis	biolink:Disease	mondo	MESH:C535298|OMIM:179700|UMLS:C1867339|GARD:0010013	gard_rare	red cell phospholipid defect with hemolysis|HPCHA|leaky Red cell syndrome|phosphatidylcholine Red cell Membrane disorder|high Red cell phosphatidylcholine hemolytic Anemia	http://purl.obolibrary.org/obo/MONDO_0008367		UMLS:C1867339|http://identifiers.org/omim/179700|MESH:C535298
MONDO:0011999	OTSC3	biolink:Disease	mondo	OMIM:608244|MESH:C564268|UMLS:C1842353		otosclerosis 3|otosclerosis 3; OTSC3|OTSC3	http://purl.obolibrary.org/obo/MONDO_0011999		http://identifiers.org/omim/608244|MESH:C564268|UMLS:C1842353
MONDO:0008366	red cell permeability defect	biolink:Disease	mondo	OMIM:179650|UMLS:C1867340		red cell permeability defect|elliptocytosis with transverse slitlike changes	http://purl.obolibrary.org/obo/MONDO_0008366		http://identifiers.org/omim/179650|UMLS:C1867340
MONDO:0008365	recombinant 8 syndrome	biolink:Disease	mondo	OMIM:179613|MESH:C535296|GARD:0009698|ICD10:Q99.8|UMLS:C0795822|Orphanet:96167|SCTID:718189004	ordo_malformation_syndrome	San Luis Valley syndrome|San Luis Valley recombinant chromosome 8 syndrome|Rec(8) syndrome|Duplication 8q/deletion 8p|chromosome 8Q22.1-qter Duplication and 8Pter-p23.1 deletion|Recombinant chromosome 8 syndrome|Rec8 syndrome|RECOMBINANT chromosome 8 syndrome	http://purl.obolibrary.org/obo/MONDO_0008365	Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.	SNOMEDCT:718189004|UMLS:C0795822|http://identifiers.org/omim/179613|ORPHA:96167|MESH:C535296
MONDO:0008364	Raynaud disease	biolink:Disease	mondo	MESH:D011928|COHD:314962|UMLS:C0034734|ICD9:443.0|OMIM:179600|NCIT:C116359|EFO:1001145|SCTID:195295006|ICD10:I73.0|DOID:10300		Raynaud syndrome|Raynaud's syndrome (disorder) [ambiguous]|secondary Raynaud disease|secondary Raynaud's phenomenon|Raynaud's syndrome|secondary Raynaud's disease|Raynaud's disease|secondary Raynaud phenomenon|Raynaud disease|cold fingers, hereditary	http://purl.obolibrary.org/obo/MONDO_0008364	An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease.	MESH:D011928|UMLS:C0034734|DOID:10300|SNOMEDCT:195295006|http://identifiers.org/omim/179600|NCIT:C116359
MONDO:0008363	raindrop hypopigmentation	biolink:Disease	mondo	MESH:C566724|OMIM:179500		raindrop hypopigmentation	http://purl.obolibrary.org/obo/MONDO_0008363		http://identifiers.org/omim/179500|MESH:C566724
MONDO:0008362	ragweed sensitivity	biolink:Disease	mondo	MESH:C566725|OMIM:179450		ragweed sensitivity	http://purl.obolibrary.org/obo/MONDO_0008362		http://identifiers.org/omim/179450|MESH:C566725
MONDO:0008361	radius, aplasia of, with cleft lip/palate	biolink:Disease	mondo	UMLS:C1867395|OMIM:179400		radius, aplasia of, with cleft lip/palate	http://purl.obolibrary.org/obo/MONDO_0008361		http://identifiers.org/omim/179400|UMLS:C1867395
MONDO:0008360	obsolete radioulnar synostosis (disease)	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0008360		
MONDO:0021315	malignant tumor of nasopharynx	biolink:Disease	mondo	UMLS:C0153392|NCIT:C9321|ICD9:147.9|SCTID:187692001|UMLS:C0238301|ICD9:147.8		cancer of nasopharynx|malignant neoplasm of the nasopharynx|nasopharynx cancer|malignant nasopharyngeal tumor|malignant nasopharynx neoplasm|malignant tumor of the nasopharynx|malignant neoplasm of nasopharynx|malignant nasopharyngeal neoplasm	http://purl.obolibrary.org/obo/MONDO_0021315	A cancer that involves the nasopharynx.	UMLS:C0153392|SNOMEDCT:187692001|UMLS:C0238301|NCIT:C9321
MONDO:0021316	malignant tumor of minor salivary gland	biolink:Disease	mondo	SCTID:363485006|NCIT:C4410|UMLS:C0345614		cancer of minor salivary gland|minor salivary gland cancer|malignant tumor of the minor salivary gland|malignant minor salivary gland neoplasm|malignant neoplasm of minor salivary gland|malignant neoplasm of the minor salivary gland|malignant minor salivary gland tumor	http://purl.obolibrary.org/obo/MONDO_0021316	A cancer that involves the minor salivary gland.	NCIT:C4410|SNOMEDCT:363485006|UMLS:C0345614
MONDO:0021317	cancer of cerebellum	biolink:Disease	mondo	NCIT:C3569|SCTID:449420002|ICD9:191.6		malignant cerebellar tumor|cancer of the cerebellum|cerebellar cancer|malignant tumor of cerebellum|malignant tumor of the cerebellum|malignant cerebellar neoplasms|malignant neoplasm of cerebellum|cerebellar tumor, malignant|malignant neoplasm of the cerebellum|cerebellum cancer|cancer of cerebellum|cerebellar neoplasm, malignant|malignant cerebellar neoplasm|malignant cerebellum neoplasm	http://purl.obolibrary.org/obo/MONDO_0021317	A cancer that involves the cerebellum.	NCIT:C3569|SNOMEDCT:449420002
HGNC:18688	CRB2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18688		
HGNC:18683	EIF4A3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18683		
MONDO:0021310	malignant tumor of neck	biolink:Disease	mondo	SCTID:363489000|UMLS:C0746787|NCIT:C4940		malignant neoplasm of neck|malignant neck tumor|malignant neoplasm of the neck|cancer of neck|malignant neck neoplasm|neck cancer|cancer of the neck|malignant tumor of the neck	http://purl.obolibrary.org/obo/MONDO_0021310	A cancer that involves the neck.	UMLS:C0746787|NCIT:C4940|SNOMEDCT:363489000
MONDO:0021311	malignant tumor of parathyroid gland	biolink:Disease	mondo	SCTID:363481002|ICD9:194.1|ONCOTREE:PTH|NCIT:C9322		malignant neoplasm of parathyroid|malignant parathyroid tumor|malignant parathyroid neoplasm|malignant parathyroid gland neoplasm|malignant tumor of the parathyroid gland|malignant neoplasm of parathyroid gland|parathyroid cancer|malignant tumor of the parathyroid|parathyroid gland cancer|malignant tumor of parathyroid|cancer of parathyroid gland|malignant neoplasm of the parathyroid gland|malignant parathyroid gland tumor|malignant neoplasm of the parathyroid	http://purl.obolibrary.org/obo/MONDO_0021311	A cancer that involves the parathyroid gland.	NCIT:C9322|SNOMEDCT:363481002
MONDO:0021312	malignant tumor of adrenal cortex	biolink:Disease	mondo	NCIT:C9327|SCTID:371964008		malignant adrenal cortex tumor|malignant neoplasm of the adrenal cortex|malignant neoplasm of adrenal cortex|adrenal cortex cancer|malignant adrenocortical neoplasm|malignant adrenal cortex neoplasm|malignant adrenocortical tumor|cancer of adrenal cortex|malignant tumor of the adrenal cortex	http://purl.obolibrary.org/obo/MONDO_0021312	A cancer that involves the adrenal cortex.	NCIT:C9327|SNOMEDCT:371964008
MONDO:0008339	antecubital pterygium syndrome	biolink:Disease	mondo	GARD:0004570|UMLS:C1867439|Orphanet:2987|MESH:C566738|OMIM:178200	clingen|ordo_malformation_syndrome	antecubital pterygium|pterygium antecubital|pterygium, antecubital	http://purl.obolibrary.org/obo/MONDO_0008339		ORPHA:2987|http://identifiers.org/omim/178200|MESH:C566738|UMLS:C1867439
MONDO:0021313	eyelid cancer	biolink:Disease	mondo	SCTID:231829006|NCIT:C6786|ICD9:173.1		malignant eyelid neoplasm|cancer of eyelid|malignant tumor of eyelid|malignant tumor of the eyelid|malignant neoplasm of eyelid|malignant eyelid tumor|malignant neoplasm of the eyelid|eyelid cancer	http://purl.obolibrary.org/obo/MONDO_0021313	A cancer that involves the eyelid.	SNOMEDCT:231829006|NCIT:C6786
MONDO:0008338	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A	biolink:Disease	mondo	OMIM:178110|ICD10:Q79.8|GARD:0013058|UMLS:C1867440|Orphanet:65743|MESH:C566739	gard_rare|ordo_malformation_syndrome	DA8|pterygium syndrome, multiple, autosomal dominant|arthrogryposis, distal, type 8; DA8|distal arthrogryposis type 8|arthrogryposis, distal, type 8|multiple pterygium syndrome, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008338		http://identifiers.org/omim/178110|MESH:C566739|UMLS:C1867440|ORPHA:65743
MONDO:0011989	leishmaniasis	biolink:Disease	mondo	GARD:0006881|MESH:D007896|UMLS:C0023281|ICD9:085.9|EFO:0005044|ICD10:B55.9|SCTID:80612004|ICD10:B55|ICD10:B55.2|ICD10:B55.1|NCIT:C34767|COHD:433407|DOID:9065|ICD10:B55.0|Orphanet:507|ICD9:085|MedDRA:10024198	ordo_disease	post-kala-azar dermal infectious disease by leishmaniasis|post-kala-azar dermal leishmaniasis|post kala-Azar dermal leishmaniasis|visceral leishmaniasis (subtype)|cutaneous leishmaniasis (subtype)	http://purl.obolibrary.org/obo/MONDO_0011989	Infectious disease that is transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration).	UMLS:C0023281|MESH:D007896|DOID:9065|SNOMEDCT:80612004|MEDDRA:10024198|NCIT:C34767|ORPHA:507
MONDO:0008337	familial pterygium of the conjunctiva	biolink:Disease	mondo	ICD10:H11.0|UMLS:C1867441|GARD:0004569|Orphanet:2989|MESH:C566740|OMIM:178000	ordo_morphological_anomaly	pterygium of conjunctiva and cornea|pterygium of the conjunctiva and cornea	http://purl.obolibrary.org/obo/MONDO_0008337	Familial pterygium of the conjunctiva is a rare form of pterygium, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision.	http://identifiers.org/omim/178000|ORPHA:2989|MESH:C566740|UMLS:C1867441
MONDO:0008336	pterygium colli, isolated	biolink:Disease	mondo	OMIM:177990|UMLS:C1867442|MESH:C566741		pterygium colli, isolated	http://purl.obolibrary.org/obo/MONDO_0008336		MESH:C566741|UMLS:C1867442|http://identifiers.org/omim/177990
MONDO:0011987	cone-rod dystrophy 13	biolink:Disease	mondo	UMLS:C2750720|DOID:0111016|OMIM:608194|MESH:C567698		RPGRIP1 cone-rod dystrophy|cone-rod dystrophy caused by mutation in RPGRIP1|CORD13|cone-rod dystrophy 13; CORD13|cone-rod dystrophy type 13|cone-rod dystrophy 13	http://purl.obolibrary.org/obo/MONDO_0011987	Any cone-rod dystrophy in which the cause of the disease is a mutation in the RPGRIP1 gene.	UMLS:C2750720|http://identifiers.org/omim/608194|MESH:C567698|DOID:0111016
MONDO:0008335	short stature-craniofacial anomalies-genital hypoplasia syndrome	biolink:Disease	mondo	UMLS:C1867443|MESH:C535844|ICD10:Q87.8|OMIM:177980|SCTID:716090004|Orphanet:2994|GARD:0002605	ordo_malformation_syndrome	pterygia, intellectual disability, and distinctive craniofacial features|Haspeslagh-Fryns-Muelenaere syndrome|pterygia, mental retardation and distinctive craniofacial features|Haspeslagh syndrome|pterygia, mental retardation, and distinctive craniofacial features|pterygia, intellectual disability and distinctive craniofacial features|pterygia mental retardation facial dysmorphism|pterygia intellectual disability facial dysmorphism	http://purl.obolibrary.org/obo/MONDO_0008335	Short stature-craniofacial anomalies-genital hypoplasia syndrome is characterized by the association of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p.	ORPHA:2994|SNOMEDCT:716090004|UMLS:C1867443|MESH:C535844|http://identifiers.org/omim/177980
MONDO:0011988	neutrophil immunodeficiency syndrome	biolink:Disease	mondo	MESH:C564275|UMLS:C1842398|SCTID:723443003|ICD10:D71|Orphanet:183707|OMIM:608203	ordo_disease	neutrophil immunodeficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0011988	Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.	ORPHA:183707|http://identifiers.org/omim/608203|SNOMEDCT:723443003|UMLS:C1842398|MESH:C564275
MONDO:0008334	psoriasis 1, susceptibility to	biolink:Disease	mondo	OMIM:177900|DOID:0111286	predisposition	psoriasis 1, susceptibility to; PSORS1|HLA-C psoriasis|susceptibility to psoriasis 1|psoriasis caused by mutation in HLA-C|psoriasis 1, susceptibility to|PSORS1	http://purl.obolibrary.org/obo/MONDO_0008334	Any psoriasis in which the cause of the disease is a mutation in the HLA-C gene.	DOID:0111286|http://identifiers.org/omim/177900
MONDO:0008333	pseudoxanthoma elasticum, forme fruste	biolink:Disease	mondo	GARD:0010104|OMIM:177850	gard_rare	pseudoxanthoma elasticum, heterozygous|pseudoxanthoma elasticum, forme fruste	http://purl.obolibrary.org/obo/MONDO_0008333	An autosomal dominant form of PXE.	http://identifiers.org/omim/177850
MONDO:0008332	pseudo-von Willebrand disease	biolink:Disease	mondo	MESH:C536458|ICD10:D69.8|Orphanet:52530|DOID:0111056|NCIT:C131681|GARD:0008312|OMIM:177820	ordo_disease	pseudo-von Willebrand disease type 2B|PT-VWD|platelet-type bleeding disorder 3|pseudo-VON WILLEBRAND disease; VWDP|VWDP|pseudo-von Willebrand disease|platelet type-von Willebrand disease|bleeding disorder, Platelet-type, 3|Von Willebrand disease, platelet type|von Willebrand disease platelet-type|Platelet type-von Willebrand disease|Von Willebrand disease, Platelet-type|BDPLT3|Platelet-type von Willebrand disease	http://purl.obolibrary.org/obo/MONDO_0008332	Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia.	DOID:0111056|MESH:C536458|http://identifiers.org/omim/177820|NCIT:C131681|ORPHA:52530
MONDO:0008331	obsolete pseudopapilledema (disease)	biolink:Disease	mondo	COHD:436702|UMLS:C0155300|ICD9:377.24|Orphanet:519339|SCTID:57138009|DOID:1392|OMIM:177800|MESH:C562401		crowded optic disc|pseudopapilledema	http://purl.obolibrary.org/obo/MONDO_0008331	Apparent optic disc swelling in the absence of increased intracranial pressure.	SNOMEDCT:57138009|UMLS:C0155300|http://identifiers.org/omim/177800|DOID:1392|ORPHA:519339|MESH:C562401
MONDO:0008330	pseudomonilethrix	biolink:Disease	mondo	SCTID:254229006|MESH:C562988|UMLS:C0432346|OMIM:177750		pseudomonilethrix	http://purl.obolibrary.org/obo/MONDO_0008330		UMLS:C0432346|http://identifiers.org/omim/177750|MESH:C562988|SNOMEDCT:254229006
MONDO:0011992	hereditary spastic paraplegia 25	biolink:Disease	mondo	OMIM:608220|SCTID:732933009|ICD10:G11.4|MESH:C536861|GARD:0009582|UMLS:C4518003|UMLS:C2936860|DOID:0110776|Orphanet:101005	ordo_disease	SPG25|spinal disc herniation with autosomal recessive spastic paraplegia|autosomal recessive spastic paraplegia-disc herniation syndrome|spastic paraplegia 25|autosomal recessive spastic paraplegia type 25|Disc herniation with spastic paraplegia, autosomal recessive|spastic paraplegia 25, autosomal recessive|autosomal recessive spastic paraplegia 25|spastic paraplegia 25, autosomal recessive; SPG25|hereditary spastic paraplegia type 25	http://purl.obolibrary.org/obo/MONDO_0011992	Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1.	UMLS:C4518003|SNOMEDCT:732933009|http://identifiers.org/omim/608220|UMLS:C2936860|MESH:C536861|DOID:0110776|ORPHA:101005
FOODON:03400148	milk or milk product (us cfr)	biolink:OntologyClass	mondo	http://www.langual.org/langual_thesaurus.asp?termid=A0148			http://purl.obolibrary.org/obo/FOODON_03400148	Milk in all forms, milk-based beverage, cultured milk product, or milk or milk product analog. Index infant formula under *MEAL REPLACEMENT*.	
MONDO:0011993	aspirin resistance	biolink:Disease	mondo	OMIM:608223		aspirin, resistance to Cardioprotective Effect of|aspirin resistance|aspirin, resistance to Antithrombotic Effect of	http://purl.obolibrary.org/obo/MONDO_0011993		http://identifiers.org/omim/608223
MONDO:0011990	BFNS3	biolink:Disease	mondo	UMLS:C1842382|OMIM:608217|MESH:C564274		BFNS3|seizures, benign familial neonatal, 3; BFNS3|convulsions, benign familial neonatal, 3|seizures, benign familial neonatal, 3	http://purl.obolibrary.org/obo/MONDO_0011990		http://identifiers.org/omim/608217|UMLS:C1842382|MESH:C564274
NCBITaxon:55824	Hirudinea	organism taxon	mondo	GC_ID:1		leeches	http://purl.obolibrary.org/obo/NCBITaxon_55824		
MONDO:0011991	autosomal recessive nonsyndromic deafness 38	biolink:Disease	mondo	ICD10:H90.3|DOID:0110496|UMLS:C1842381|OMIM:608219|MESH:C564273		autosomal recessive nonsyndromic deafness type 38|deafness, autosomal recessive 38; DFNB38|autosomal recessive deafness 38|DFNB38|deafness, autosomal recessive 38	http://purl.obolibrary.org/obo/MONDO_0011991	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 6q26-q27.	http://identifiers.org/omim/608219|UMLS:C1842381|MESH:C564273|DOID:0110496
MONDO:0011996	chronic myelogenous leukemia, BCR-ABL1 positive	biolink:Disease	mondo	MedDRA:10009013|OMIM:608232|UMLS:C0023473|GARD:0006105|DOID:8552|EFO:0000339|ICDO:9875/3|ICDO:9863/3|COHD:134603|KEGG:05220|ICD9:205.1|Orphanet:521|ICD10:C92.1|ONCOTREE:CML|NCIT:C3174	ordo_disease	chronic granulocytic leukemia|myeloid leukemia, chronic|chronic myeloid leukemia|chronic myelocytic leukemia|leukemia, chronic myeloid|CML - chronic myelogenous leukemia|leukemia, chronic myeloid; CML|BCR-ABL Positive chronic myelogenous leukemia|hematopoeitic - chronic myelocytic leukemia (CML)|chronic myelogenous leukemia, BCR-ABL1 Positive|chronic myelogenous leukemias|leukemia, chronic myeloid, atypical|CML|leukemia, chronic myelogenous|CML|chronic myelogenous leukemia (CML)|chronic myelogenous leukemia	http://purl.obolibrary.org/obo/MONDO_0011996	A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival.	MEDDRA:10009013|NCIT:C3174|DOID:8552|http://identifiers.org/omim/608232|ORPHA:521|UMLS:C0023473
MONDO:0011997	Hermansky-Pudlak syndrome 2	biolink:Disease	mondo	GARD:0009435|UMLS:C1842362|MESH:C537709|DOID:0060540|ICD10:E70.3|Orphanet:183678|OMIM:608233|NCIT:C150368	gard_rare|ordo_clinical_subtype	Hermansky-Pudlak syndrome 2|Hermansky-Pudlak syndrome with neutropenia|Hermansky-Pudlak syndrome type 2|Hermansky-Pudlak syndrome 2; HPS2|HPS2|AP3B1 Hermansky-Pudlak syndrome|Hermansky Pudlak syndrome 2|Hermansky-Pudlak syndrome caused by mutation in AP3B1|Platelet defects and oculocutaneous albinism	http://purl.obolibrary.org/obo/MONDO_0011997	Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.	DOID:0060540|ORPHA:183678|http://identifiers.org/omim/608233|NCIT:C150368|MESH:C537709|UMLS:C1842362
MONDO:0011994	autosomal dominant nonsyndromic deafness 41	biolink:Disease	mondo	OMIM:608224|UMLS:C1842371|ICD10:H90.3|DOID:0110567|MESH:C564272		autosomal dominant nonsyndromic deafness type 41|autosomal dominant deafness 41|deafness, autosomal dominant 41|P2RX2 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness caused by mutation in P2RX2|deafness, autosomal dominant 41; DFNA41|deafness, autosomal dominant type 41|DFNA41	http://purl.obolibrary.org/obo/MONDO_0011994	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the P2RX2 gene.	http://identifiers.org/omim/608224|MESH:C564272|UMLS:C1842371|DOID:0110567
HGNC:18658	NUP205	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18658		
MONDO:0011995	cataract - congenital heart disease - neural tube defect syndrome	biolink:Disease	mondo	Orphanet:314993|MESH:C564271|UMLS:C1842363|OMIM:608227	ordo_malformation_syndrome	craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developintellectual disability|craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation	http://purl.obolibrary.org/obo/MONDO_0011995	Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). hypotonia, growth and developmental delay, seizures, and joint limitation are also reported.	ORPHA:314993|http://identifiers.org/omim/608227|UMLS:C1842363|MESH:C564271
HGNC:18654	RTTN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18654		
MONDO:0021307		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021307		
MONDO:0021309	malignant neoplasm of endocervix	biolink:Disease	mondo	ICD9:180.0|ICD10:C53.0|SCTID:372097009|NCIT:C3553		malignant endocervical neoplasm|malignant neoplasm of uterine endocervix|malignant uterine endocervix tumor|malignant neoplasm of the uterine endocervix|cancer of endocervix|endocervix cancer|malignant uterine endocervix neoplasm|malignant tumor of endocervix|malignant endocervix neoplasm|malignant tumor of the endocervix|malignant endocervical tumor|malignant tumor of uterine endocervix|malignant tumor of the uterine endocervix|malignant neoplasm of endocervix|malignant endocervix tumor|malignant neoplasm of the endocervix	http://purl.obolibrary.org/obo/MONDO_0021309	A cancer that involves the endocervix.	SNOMEDCT:372097009|NCIT:C3553
MONDO:0021300	adenoid cystic carcinoma of oropharynx	biolink:Disease	mondo	NCIT:C6241|SCTID:423318000|UMLS:C1335139		adenoid cystic carcinoma of the oropharynx|oropharynx adenoid cystic carcinoma|oropharyngeal adenoid cystic carcinoma|oropharyngeal throat adenoid cystic cancer	http://purl.obolibrary.org/obo/MONDO_0021300	A adenoid cystic carcinoma that involves the oropharynx.	NCIT:C6241|SNOMEDCT:423318000|UMLS:C1335139
MONDO:0021301	adenoma of nipple	biolink:Disease	mondo	ICDO:8506/0|NCIT:C4192|UMLS:C0334378|SCTID:302829009		subareolar duct papillomatosis|papillomatosis, subareolar duct|adenoma of the nipple|nipple adenoma	http://purl.obolibrary.org/obo/MONDO_0021301	A adenoma that involves the nipple.	NCIT:C4192|UMLS:C0334378|SNOMEDCT:302829009
MONDO:0021303	adenoma of small intestine	biolink:Disease	mondo	NCIT:C5340|UMLS:C1302392|SCTID:399422005		small bowel adenoma|small intestine adenoma|adenoma of the small bowel|adenoma of small bowel|small intestinal adenoma|adenoma of the small intestine	http://purl.obolibrary.org/obo/MONDO_0021303	A adenoma that involves the small intestine.	NCIT:C5340|SNOMEDCT:399422005|UMLS:C1302392
MONDO:0008349	pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities	biolink:Disease	mondo	MESH:C566733|OMIM:178650|UMLS:C1867407		Ciuffo syndrome|pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities	http://purl.obolibrary.org/obo/MONDO_0008349		MESH:C566733|http://identifiers.org/omim/178650|UMLS:C1867407
MONDO:0008348	pulmonary nodular lymphoid hyperplasia	biolink:Disease	mondo	UMLS:C1334969|OMIM:178610|SCTID:718097008|Orphanet:60026|UMLS:C1867419	ordo_disease	pulmonary pseudolymphoma|pulmonary nodular lymphoid hyperplasia, familial	http://purl.obolibrary.org/obo/MONDO_0008348	Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung.	ORPHA:60026|http://identifiers.org/omim/178610|UMLS:C1867419|SNOMEDCT:718097008|UMLS:C1334969
MONDO:0011978	CoQ-responsive OXPHOS deficiency	biolink:Disease	mondo	UMLS:C1842463|GARD:0010240|OMIM:608158|MESH:C535470	n_of_one	CoQ-responsive oxidative phosphorylation disorder|CoQ-responsive OXPHOS deficiency	http://purl.obolibrary.org/obo/MONDO_0011978		UMLS:C1842463|MESH:C535470|http://identifiers.org/omim/608158
MONDO:0008347	idiopathic and/or familial pulmonary arterial hypertension	biolink:Disease	mondo	ICD10:I27.0|Orphanet:422|UMLS:CN205068	ordo_disease	pulmonary hypertension, primary, 1|PPH1|IFPAH|pulmonary hypertension, primary, type 1	http://purl.obolibrary.org/obo/MONDO_0008347	Idiopathic and/or familial pulmonary arterial hypertension (IFPAH) is a form or pulmonary arterial hypertension (PAH, see his term) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. About 75% of heritable pulmonary arterial hypertension (HPAH) have an identified mutation. HPAH has been linked to mutations in BMPR2 in 75% of cases; other genes implicated in HPAH include ACVR1, BMPR1, CAV1, ENG and SMAD9 and CBLN2. (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown.	ORPHA:422|UMLS:CN205068
MONDO:0011979	adult-onset foveomacular vitelliform dystrophy	biolink:Disease	mondo	SCTID:232049001|ICD10:H35.5|UMLS:C1842914|GARD:0010909|Orphanet:99000	ordo_disease	VMD3|foveomacular dystrophy, adult-onset, with choroidal neovascularization|Gass disease|adult-onset foveomacular dystrophy with choroidal neovascularization|AOFMD|foveomacular dystrophy, adult-onset; AOFMD|macular dystrophy, vitelliform, adult-onset|pseudo-Best disease|pseudo-vitelliform macular dystrophy|adult-onset foveomacular dystrophy|AVMD|adult-onset vitelliform macular dystrophy|macular dystrophy, vitelliform, type 3|macular dystrophy, vitelliform, 3	http://purl.obolibrary.org/obo/MONDO_0011979	Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region.	UMLS:C1842914|ORPHA:99000|SNOMEDCT:232049001
MONDO:0008346	pulmonary hemosiderosis	biolink:Disease	mondo	ICD10:J99.8*|DOID:10328|SCTID:40527005|DOID:12118|GARD:0007645|ICD10:J84.03|Orphanet:99931|ICD10:J63.4|ICD9:516.1|GARD:0006763|COHD:438782|MESH:D012806|OMIM:178550|ICD10:E83.1+	ordo_disease|gard_rare	siderosis|pulmonary siderosis|idiopathic pulmonary hemosiderosis|pulmonary hemosiderosis|alveolar hypoventilation syndrome|brown lung|brown induration	http://purl.obolibrary.org/obo/MONDO_0008346	Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients.	MESH:C536281|ORPHA:99931|http://identifiers.org/omim/178550|MESH:D012806|DOID:12118|DOID:10328|UMLS:C0020807|SNOMEDCT:40527005
MONDO:0011976	lipodystrophy-intellectual disability-deafness syndrome	biolink:Disease	mondo	MESH:C564283|Orphanet:50811|ICD10:Q78.8|OMIM:608154|SCTID:721973006	ordo_disease	lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones|Rajab-Spranger syndrome|lipodystrophy, generalized, with intellectual disability, deafness, short stature, and slender bones	http://purl.obolibrary.org/obo/MONDO_0011976	Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.	MESH:C564283|SNOMEDCT:721973006|http://identifiers.org/omim/608154|ORPHA:50811
MONDO:0008345	idiopathic pulmonary fibrosis	biolink:Disease	mondo	Orphanet:2032|SCTID:196125002|NCIT:C35716|COHD:45763750|EFO:0000768|DOID:0050156|ICD10:J84.1|ICD10:J84.112|OMIM:178500|ICD9:516.31|MESH:D054990|GARD:0008609|MedDRA:10021240	gard_rare|ordo_disease	interstitial pneumonitis, usual|familial idiopathic pulmonary fibrosis|Hamman-rich disease|pulmonary fibrosis, idiopathic|IPF|pulmonary fibrosis, idiopathic; IPF|CFA|fibrocystic pulmonary dysplasia|UIP|cryptogenic fibrosing alveolitis|fibrosing alveolitis, cryptogenic|fibrosing alveolitis|idiopathic pulmonary fibrosis, familial|usual interstitial pneumonia	http://purl.obolibrary.org/obo/MONDO_0008345	Idiopathic pulmonary fibrosis (IPF) is a nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause.	DOID:0050156|NCIT:C35716|http://identifiers.org/omim/178500|MEDDRA:10021240|MESH:D054990|SNOMEDCT:196125002|ORPHA:2032
MONDO:0011977	8q22.1 microdeletion syndrome	biolink:Disease	mondo	SCTID:719664004|OMIM:608156|GARD:0004722|MESH:C536110|Orphanet:178303|UMLS:C1842464|ICD10:Q93.5	ordo_malformation_syndrome	NABLUS mask-like facial syndrome; NMLFS|monosomy 8q22.1|chromosome 8Q22.1 deletion syndrome|NMLFS|NABLUS mask-like facial syndrome|Nablus mask-like facial syndrome	http://purl.obolibrary.org/obo/MONDO_0011977	The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.	UMLS:C1842464|SNOMEDCT:719664004|ORPHA:178303|http://identifiers.org/omim/608156|MESH:C536110
MONDO:0008344	pulmonary edema of mountaineers, susceptibility to	biolink:Disease	mondo	SCTID:233954004|GARD:0008348|ICD9:993.2|OMIM:178400|ICD9:416.8|MESH:C535833	predisposition	pulmonary edema of mountaineers, susceptibility to|pulmonary edema of mountaineers|HAPH|high altitude pulmonary hypertension	http://purl.obolibrary.org/obo/MONDO_0008344		http://identifiers.org/omim/178400|MESH:C535833|SNOMEDCT:233954004
MONDO:0008343	pulmonary atresia with ventricular septal defect	biolink:Disease	mondo	GARD:0004588|SCTID:253591008|MESH:C562833|ICD10:Q25.5|UMLS:C0344976|Orphanet:1207|OMIM:178370|NCIT:C99033	ordo_morphological_anomaly|gard_rare	pulmonary atresia with ventricular septal defect|pulmonary valve atresia with ventricular septal defect	http://purl.obolibrary.org/obo/MONDO_0008343	Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot.	UMLS:C0344976|http://identifiers.org/omim/178370|NCIT:C99033|MESH:C562833|ORPHA:1207|SNOMEDCT:253591008
MONDO:0008342	pubic bone dysplasia	biolink:Disease	mondo	OMIM:178350|UMLS:C1867436|MESH:C566735		pubic bone dysplasia	http://purl.obolibrary.org/obo/MONDO_0008342		MESH:C566735|UMLS:C1867436|http://identifiers.org/omim/178350
MONDO:0008341	ptosis-strabismus-ectopic pupils syndrome	biolink:Disease	mondo	Orphanet:2999|UMLS:C1867437|MESH:C566736|OMIM:178330|GARD:0004577	ordo_malformation_syndrome	ptosis, strabismus, and ectopic pupils|McPherson-Hall syndrome|ptosis strabismus ectopic pupils	http://purl.obolibrary.org/obo/MONDO_0008341	Ptosis-strabismus-ectopic pupils syndrome is characterised by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant.	UMLS:C1867437|ORPHA:2999|http://identifiers.org/omim/178330|MESH:C566736
MONDO:0008340	congenital ptosis (disease)	biolink:Disease	mondo	COHD:437093|SCTID:268163008|Orphanet:91411|DOID:0060261|ICD10:Q10.0|MESH:C566737|ICD9:743.61|MedDRA:10015996|OMIM:178300|HP:0007970|NCIT:C27049	ordo_disease	congenital eyelid ptosis|congenital ptosis|ptosis, hereditary congenital 1|PTOS1|ptosis, hereditary congenital 1; PTOS1	http://purl.obolibrary.org/obo/MONDO_0008340	Congenital ptosis is characterized by superior eyelid drop present at birth.	NCIT:C27049|DOID:0060261|MEDDRA:10015996|SNOMEDCT:268163008|ORPHA:91411|UMLS:C0266573|http://identifiers.org/omim/178300|MESH:C566737
MONDO:0011981	autoimmune thyroid disease, susceptibility to, 2	biolink:Disease	mondo	UMLS:C1842445|OMIM:608174	predisposition	AITD2|autoimmune thyroid disease, susceptibility to, 2|autoimmune thyroid disease, susceptibility to, type 2	http://purl.obolibrary.org/obo/MONDO_0011981		http://identifiers.org/omim/608174|UMLS:C1842445
MONDO:0011982	autoimmune thyroid disease, susceptibility to, 3	biolink:Disease	mondo	OMIM:608175	predisposition	thyroglobulin|AITD3|autoimmune thyroid disease, susceptibility to, 3|autoimmune thyroid disease, susceptibility to, type 3|autoimmune thyroid disease, susceptibility to, 3; AITD3|TGN	http://purl.obolibrary.org/obo/MONDO_0011982		http://identifiers.org/omim/608175
MONDO:0011980	autoimmune thyroid disease, susceptibility to, 1	biolink:Disease	mondo	UMLS:C1842446|OMIM:608173	predisposition	autoimmune thyroid disease, susceptibility to, 1|AITD1|autoimmune thyroid disease, susceptibility to, type 1	http://purl.obolibrary.org/obo/MONDO_0011980		http://identifiers.org/omim/608173|UMLS:C1842446
MONDO:0011985	hyper-IgM syndrome type 4	biolink:Disease	mondo	GARD:0010580|OMIM:608184|ICD10:D80.5|UMLS:C1842413|Orphanet:101091|MESH:C564277|DOID:0060760	gard_rare|ordo_clinical_subtype	HIGM4|hyper-IgM syndrome type 4|immunodeficiency with hyper-IgM type 4|hyper IgM syndrome 4|immunodeficiency with hyper-IgM, type 4|immunodeficiency with hyper IgM type 4|immunodeficiency with hyper-IgM, type 4; HIGM4|hyper-IgM syndrome 4	http://purl.obolibrary.org/obo/MONDO_0011985	A form of Hyper IgM syndrome which is a defect in class switch recombination downstream of the AICDA gene that does not impair somatic hypermutation.	ORPHA:101091|DOID:0060760|http://identifiers.org/omim/608184|UMLS:C1842413|MESH:C564277
MONDO:0011986	tropical pancreatitis	biolink:Disease	mondo	OMIM:608189|UMLS:C4510860|SCTID:724540009|MESH:C564276|UMLS:C1842402|Orphanet:103918|ICD10:K86.1	ordo_disease	TCP|tropical calcific pancreatitis|tropical calcific chronic pancreatitis	http://purl.obolibrary.org/obo/MONDO_0011986	Tropical pancreatitis is a rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy. It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis.	ORPHA:103918|UMLS:C4510860|SNOMEDCT:724540009|http://identifiers.org/omim/608189|UMLS:C1842402|MESH:C564276
MONDO:0011983	autoimmune thyroid disease, susceptibility to, 4	biolink:Disease	mondo	OMIM:608176|UMLS:C1842443	predisposition	AITD4|autoimmune thyroid disease, susceptibility to, 4|autoimmune thyroid disease, susceptibility to, type 4	http://purl.obolibrary.org/obo/MONDO_0011983		http://identifiers.org/omim/608176|UMLS:C1842443
MONDO:0011984	synpolydactyly type 2	biolink:Disease	mondo	Orphanet:295197|OMIM:608180|MESH:C564278|ICD10:Q70.2|UMLS:C1842422|ICD10:Q70.0	ordo_clinical_subtype	synpolydactyly type 2|SPD2|synpolydactyly 2|synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses|SD2, Debeer type|non-syndromic synpolydactyly caused by mutation in FBLN1|synpolydactyly 2; SPD2|SD2b|FBLN1 non-syndromic synpolydactyly|synpolydactyly, Debeer type|SPD, Debeer type	http://purl.obolibrary.org/obo/MONDO_0011984	Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the FBLN1 gene.	http://identifiers.org/omim/608180|ORPHA:295197|MESH:C564278|UMLS:C1842422
HGNC:18667	PMPCA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18667		
HGNC:16002	MPLKIP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16002		
HGNC:18662	RAX	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18662		
HGNC:16001	SUGCT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16001		
GO:0006826	iron ion transport	biolink:OntologyClass	mondo			iron transport|ferric ion transport|iron ion import|ferric iron transport|ferric iron import|ferric ion import|ferric iron uptake|ferrous iron transport|ferrous ion transport	http://purl.obolibrary.org/obo/GO_0006826	The directed movement of iron (Fe) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
GO:0006821	chloride transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0006821	The directed movement of chloride into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
GO:0006820	anion transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0006820	The directed movement of anions, atoms or small molecules with a net negative charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
UBERON:0005233	medial-nasal process ectoderm	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005233	An ectoderm that is part of a medial nasal prominence [Automatically generated definition].	
HGNC:18758	BBS7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18758		
HGNC:3402	EPHX2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3402		
UBERON:0005239	basal plate metencephalon	biolink:AnatomicalEntity	mondo			metencephalon basal plate	http://purl.obolibrary.org/obo/UBERON_0005239		
HGNC:3401	EPHX1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3401		
UBERON:0005236	osseus labyrinth vestibule	biolink:AnatomicalEntity	mondo			vestibular apparatus|vestibular part of bony labyrinth|vestibulum labyrinthi|inner ear vestibulum|inner ear vestibule|bony labyrinth vestibule|vestibulum auris|osseous labyrinth vestibule|vestibule|vestibule of bony labyrinth	http://purl.obolibrary.org/obo/UBERON_0005236	A small, oval, bony chamber of the labyrinth. The vestibule contains the utricle and saccule, organs which are part of the balancing apparatus of the ear.	
HP:0003581	Adult onset	biolink:PhenotypicFeature	mondo	UMLS:C1853562		Symptoms begin in adulthood|Onset in early adulthood|Onset in adulthood	http://purl.obolibrary.org/obo/HP_0003581	Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later.	
UBERON:0005234	optic eminence ectoderm	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005234	An ectoderm that is part of a optic eminence [Automatically generated definition].	
HGNC:18750	RIN2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18750		
GO:0006836	neurotransmitter transport	biolink:OntologyClass	mondo			sodium:neurotransmitter transport	http://purl.obolibrary.org/obo/GO_0006836	The directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Neurotransmitters are any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell.	
GO:0006837	serotonin transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0006837	The directed movement of serotonin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Serotonin (5-hydroxytryptamine) is a monoamine neurotransmitter occurring in the peripheral and central nervous systems.	
GO:0006835	dicarboxylic acid transport	biolink:OntologyClass	mondo			sodium:dicarboxylate transport	http://purl.obolibrary.org/obo/GO_0006835	The directed movement of dicarboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
UBERON:0005222	liver left lobe parenchyma	biolink:AnatomicalEntity	mondo			parenchyma of left lobe of liver	http://purl.obolibrary.org/obo/UBERON_0005222	A parenchyma that is part of a left lobe of liver [Automatically generated definition].	
UBERON:0005221	liver right lobe parenchyma	biolink:AnatomicalEntity	mondo			parenchyma of right lobe of liver	http://purl.obolibrary.org/obo/UBERON_0005221	A parenchyma that is part of a right lobe of liver [Automatically generated definition].	
HGNC:3415	EPO	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3415		
UBERON:0005229	lower leg epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005229	An epithelium that is part of a lower leg [Automatically generated definition].	
UBERON:0005228	upper arm epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005228	An epithelium that is part of a forelimb stylopod [Automatically generated definition].	
HGNC:3413	EPM2A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3413		
UBERON:0005227	manual digit epithelium	biolink:AnatomicalEntity	mondo			fore limb digit epithelium|hand digit epithelium|finger epithelium	http://purl.obolibrary.org/obo/UBERON_0005227	An epithelium that is part of a finger [Automatically generated definition].	
UBERON:0005226	pedal digit epithelium	biolink:AnatomicalEntity	mondo			foot digit epithelium|hind limb digit epithelium|toe epithelium	http://purl.obolibrary.org/obo/UBERON_0005226	An epithelium that is part of a toe [Automatically generated definition].	
HGNC:18762	SLC36A2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18762		
UBERON:0005225	upper leg epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005225	An epithelium that is part of a hindlimb stylopod [Automatically generated definition].	
HP:0003593	Infantile onset	biolink:PhenotypicFeature	mondo	UMLS:C1848924		Onset in infancy|Onset in first year of life|Infantile onset	http://purl.obolibrary.org/obo/HP_0003593	Onset of signs or symptoms of disease between 28 days to one year of life.	
GO:0006839	mitochondrial transport	biolink:OntologyClass	mondo			mitochondrial aspartate/glutamate transport|mitochondrial sodium/calcium ion exchange|mitochondrial alpha-ketoglutarate/malate transport	http://purl.obolibrary.org/obo/GO_0006839	Transport of substances into, out of or within a mitochondrion.	
HGNC:3416	EPOR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3416		
FOODON:00002581	aquatic invertebrate	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00002581	An aquatic invertebrate may live entirely beneath the water, or may live upon its surface or on the plants surrounding it. Some breathe air, others breathe water. To move, they may walk, swim, float, skate, fly or glide on their bellies—or they may not move much at all.	
UBERON:0005211	renal medulla interstitium	biolink:AnatomicalEntity	mondo			renal medullary interstitium|medullary interstitium|renal medullary interstitial tissue|medullary stroma|kidney medulla interstitium	http://purl.obolibrary.org/obo/UBERON_0005211	tissue surrounding the loop of Henle in the renal medulla.	
UBERON:0005219	hindbrain subarachnoid space	biolink:AnatomicalEntity	mondo			subarachnoid space hindbrain|subarachnoid space rhombencephalon	http://purl.obolibrary.org/obo/UBERON_0005219	A subarachnoid space that is part of a hindbrain [Automatically generated definition].	
UBERON:0005218	diencephalon subarachnoid space	biolink:AnatomicalEntity	mondo			subarachnoid space diencephalon	http://purl.obolibrary.org/obo/UBERON_0005218	A subarachnoid space that is part of a diencephalon [Automatically generated definition].	
UBERON:0005217	midbrain subarachnoid space	biolink:AnatomicalEntity	mondo			subarachnoid space midbrain|subarachnoid space mesencephalon	http://purl.obolibrary.org/obo/UBERON_0005217	A subarachnoid space that is part of a midbrain [Automatically generated definition].	
UBERON:0005216	optic eminence surface ectoderm	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005216	An external ectoderm that is part of a optic eminence [Automatically generated definition].	
UBERON:0005215	kidney interstitium	biolink:AnatomicalEntity	mondo			renal interstitium|renal interstitial tissue|interstitial tissue of kidney|renal stroma|kidney interstitium group|stroma of kidney	http://purl.obolibrary.org/obo/UBERON_0005215	The interstitial compartment of the kidney, comprising the extravascular intertubular spaces of the renal parenchyma, with their attendant cellular elements and extracellular substances, bounded on all sides by epithelial and vascular basement membranes.	
GO:0006807	nitrogen compound metabolic process	biolink:OntologyClass	mondo			nitrogen compound metabolism	http://purl.obolibrary.org/obo/GO_0006807	The chemical reactions and pathways involving organic or inorganic compounds that contain nitrogen.	
UBERON:0005214	inner renal medulla interstitium	biolink:AnatomicalEntity	mondo			inner medullary interstitium|kidney inner medulla interstitium|papillary interstitium	http://purl.obolibrary.org/obo/UBERON_0005214	A portion of interstitial tissue that is part of a inner medulla of kidney [Automatically generated definition].	
HGNC:7	A2M	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7		
HP:0003560	Muscular dystrophy	biolink:PhenotypicFeature	mondo	UMLS:C0026850|MSH:D009136|SNOMEDCT_US:193225000|SNOMEDCT_US:73297009|UMLS:C1864711		Muscle biopsy shows dystrophic changes	http://purl.obolibrary.org/obo/HP_0003560	The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.	
UBERON:0005213	outer renal medulla interstitium	biolink:AnatomicalEntity	mondo			outer medullary interstitium|kidney outer medulla interstitium	http://purl.obolibrary.org/obo/UBERON_0005213	A portion of interstitial tissue that is part of a outer medulla of kidney [Automatically generated definition].	
HGNC:3420	EPS8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3420		
UBERON:0005212	Leydig cell region of testis	biolink:AnatomicalEntity	mondo			testis - interstitial|interstitium of testis|interstitium of the testis|testis interstitium|testis interstitial tissue	http://purl.obolibrary.org/obo/UBERON_0005212	The male gonad containing two functional parts: the SEMINIFEROUS TUBULES for the production and transport of male germ cells (SPERMATOGENESIS) and the interstitial compartment containing LEYDIG CELLS that produce ANDROGENS..	
GO:0006812	cation transport	biolink:OntologyClass	mondo			trivalent inorganic cation transport|di-, tri-valent inorganic cation transport	http://purl.obolibrary.org/obo/GO_0006812	The directed movement of cations, atoms or small molecules with a net positive charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
GO:0006810	transport	biolink:OntologyClass	mondo			solute:solute exchange|small molecule transport|single-organism transport	http://purl.obolibrary.org/obo/GO_0006810	The directed movement of substances (such as macromolecules, small molecules, ions) or cellular components (such as complexes and organelles) into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter, pore or motor protein.	
GO:0006811	ion transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0006811	The directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
HP:0003577	Congenital onset	biolink:PhenotypicFeature	mondo	UMLS:C2752013|UMLS:C1836142		Prenatal onset|Intrauterine onset|Symptoms present at birth|Onset in utero|Onset at birth	http://purl.obolibrary.org/obo/HP_0003577	A phenotypic abnormality that is present at birth.	
UBERON:0005200	thoracic mammary gland	biolink:AnatomicalEntity	mondo			lactiferous gland|breast mammary gland|mammary gland|anterior mammary gland	http://purl.obolibrary.org/obo/UBERON_0005200	A lactiferous gland that is located in the thoracic region/breast.	
HGNC:18746	SLURP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18746		
UBERON:0005208	right atrium valve	biolink:AnatomicalEntity	mondo			right atrium valves|superior vena cava valve|valve of right atrium	http://purl.obolibrary.org/obo/UBERON_0005208	A valve that is part of a right atrium [Automatically generated definition].	
HGNC:3437	ERCC5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3437		
HGNC:18744	DNAI2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18744		
HGNC:3436	ERCC4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3436		
UBERON:0005207	tonsil capsule	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005207	A capsule that is part of a tonsil [Automatically generated definition].	
NCBITaxon:92860	Pleosporales	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_92860		
HGNC:3435	ERCC3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3435		
UBERON:0005206	choroid plexus stroma	biolink:AnatomicalEntity	mondo			choroid plexus stromal matrix	http://purl.obolibrary.org/obo/UBERON_0005206	Stromal matrix surrounding blood vessels within the choroid plexus.	
HGNC:3434	ERCC2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3434		
UBERON:0005205	lamina propria of vagina	biolink:AnatomicalEntity	mondo			vagina stroma	http://purl.obolibrary.org/obo/UBERON_0005205		
HGNC:3433	ERCC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3433		
UBERON:0005204	larynx submucosa gland	biolink:AnatomicalEntity	mondo			laryngeal submucosa gland	http://purl.obolibrary.org/obo/UBERON_0005204	A gland that is part of a larynx submucosa [Automatically generated definition].	
HGNC:3432	ERBB4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3432		
NCBITaxon:2704949	Trypanosomatida	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2704949		
HGNC:3431	ERBB3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3431		
GO:0006816	calcium ion transport	biolink:OntologyClass	mondo			sodium:calcium exchange|mitochondrial sodium/calcium ion exchange|calcium transport	http://purl.obolibrary.org/obo/GO_0006816	The directed movement of calcium (Ca) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
HGNC:3430	ERBB2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3430		
HGNC:3439	ERCC8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3439		
HGNC:3438	ERCC6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3438		
NCBITaxon:80840	Burkholderiales	organism taxon	mondo	GC_ID:11|PMID:16403855		Burkholderia/Oxalobacter/Ralstonia group	http://purl.obolibrary.org/obo/NCBITaxon_80840		
NCBITaxon:2038102	Balantioides	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2038102		
UBERON:0005277	dorsal skin of toe	biolink:AnatomicalEntity	mondo			skin of dorsal part of toe|subdivision of skin of dorsal part of toe|dorsal toe skin	http://purl.obolibrary.org/obo/UBERON_0005277	A dorsal skin of digit that is part of a pedal digit.	
UBERON:0005276	dorsal skin of finger	biolink:AnatomicalEntity	mondo			dorsal finger skin|skin of dorsal part of finger|subdivision of skin of dorsal part of finger	http://purl.obolibrary.org/obo/UBERON_0005276	A dorsal skin of digit that is part of a manual digit.	
UBERON:0005275	dorsal skin of digit	biolink:AnatomicalEntity	mondo			dorsal digit skin|skin of dorsal part of digit	http://purl.obolibrary.org/obo/UBERON_0005275		
HGNC:18713	GLCCI1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18713		
UBERON:0005270	renal cortex interstitium	biolink:AnatomicalEntity	mondo			renal cortical interstitial tissue|kidney cortex interstitium|cortical stroma	http://purl.obolibrary.org/obo/UBERON_0005270	A compartment of the renal cortex situated between basement membranes of epithelia and vessels that contains two contiguous cellular networks in mutual contact, one formed by interstitial fibroblasts, the other by dendritic cells.	
NCBITaxon:5036	Histoplasma	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_5036		
HGNC:18712	LGI4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18712		
HGNC:3444	ERF	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3444		
MONDO:0008409	MYH7-related late-onset scapuloperoneal muscular dystrophy	biolink:Disease	mondo	UMLS:CN074265|OMIM:181430|ICD10:G71.0|GARD:0010313|Orphanet:437572|SCTID:129620000	ordo_disease	scapuloperoneal muscular dystrophy|scapuloperoneal syndrome, myopathic type|SPMM|scapuloperoneal myopathy, MYH7-related|MYH7-related late-onset scapuloperoneal syndrome|MYH7-related late-onset SPMD|scapuloperoneal myopathy, MYH7-related; SPMM|SPMD|MYH7-related scapuloperoneal myopathy	http://purl.obolibrary.org/obo/MONDO_0008409		http://identifiers.org/omim/181430|SNOMEDCT:129620000|UMLS:CN074265|ORPHA:437572
MONDO:0008408	scapuloperoneal spinal muscular atrophy, autosomal dominant	biolink:Disease	mondo	SCTID:230248006|ICD9:335.19|DOID:0111552|OMIM:181405|Orphanet:431255|GARD:0010314|ICD10:G12.1|EFO:1001992	ordo_disease	amyotrophy, neurogenic scapuloperoneal, New England type|scapuloperoneal spinal muscular atrophy; SPSMA|scapuloperoneal neuronopathy|neurogenic scapuloperoneal amyotrophy, New England type|scapuloperoneal spinal muscular atrophy|SPSMA	http://purl.obolibrary.org/obo/MONDO_0008408		DOID:0111552|http://identifiers.org/omim/181405|ORPHA:431255|SNOMEDCT:230248006
MONDO:0008407	neurogenic scapuloperoneal syndrome, Kaeser type	biolink:Disease	mondo	MESH:C566695|UMLS:C1867005|Orphanet:85146|DOID:0111551|ICD10:G12.1|GARD:0010312|OMIM:181400	gard_rare|ordo_disease	scapuloperoneal syndrome, neurogenic type, of Kaeser|Kaeser syndrome|stark-Kaeser syndrome|scapuloperoneal syndrome, neurogenic, Kaeser type; SCPNK|scapuloperoneal syndrome, neurogenic, Kaeser type|SCPNK	http://purl.obolibrary.org/obo/MONDO_0008407		DOID:0111551|http://identifiers.org/omim/181400|ORPHA:85146|MESH:C566695|UMLS:C1867005
NCBITaxon:5039	Blastomyces dermatitidis	organism taxon	mondo	GC_ID:1		Ajellomyces dermatitidis|Blastomycoides dermatitidis	http://purl.obolibrary.org/obo/NCBITaxon_5039		
MONDO:0008406	autosomal recessive Emery-Dreifuss muscular dystrophy	biolink:Disease	mondo	ICD10:G71.0|Orphanet:98855	ordo_etiological_subtype	EDMD3|Emery-Dreifuss muscular dystrophy, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0008406	Autosomal recessive form of Emery-Dreifuss muscular dystrophy.	UMLS:C1450051|ORPHA:98855
NCBITaxon:5037	Histoplasma capsulatum	organism taxon	mondo	GC_ID:1		Cryptococcus capsulatus|Emmonsiella capsulata|Ajellomyces capsulatus	http://purl.obolibrary.org/obo/NCBITaxon_5037		
MONDO:0008405	scapula, contour of vertebral border of	biolink:Disease	mondo	OMIM:181300		scapula, contour of vertebral border of	http://purl.obolibrary.org/obo/MONDO_0008405		http://identifiers.org/omim/181300
MONDO:0008404	scalp-ear-nipple syndrome	biolink:Disease	mondo	OMIM:181270|MESH:C536623|Orphanet:2036|DOID:0111550|GARD:0000159|SCTID:721888002|ICD10:Q87.8	ordo_malformation_syndrome|gard_rare	Sen syndrome|scalp-ear-nipple syndrome|Finlay-Marks syndrome|SENS|hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples|scalp-EAR-nipple syndrome; SENS|scalp ear nipple syndrome	http://purl.obolibrary.org/obo/MONDO_0008404	Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.	ORPHA:2036|SNOMEDCT:721888002|UMLS:C1867020|DOID:0111550|MESH:C536623|http://identifiers.org/omim/181270
MONDO:0008403	scalp defects-postaxial polydactyly syndrome	biolink:Disease	mondo	OMIM:181250|UMLS:C1867021|ICD10:Q87.2|GARD:0000241|MESH:C536622|Orphanet:1003	ordo_malformation_syndrome	scalp defects postaxial polydactyly|scalp defects and postaxial polydactyly|congenital scalp defects associated with postaxial polydactyly	http://purl.obolibrary.org/obo/MONDO_0008403	Scalp defects-postaxial polydactyly syndrome is characterised by congenital scalp defects and postaxial polydactyly type A.	ORPHA:1003|UMLS:C1867021|MESH:C536622|http://identifiers.org/omim/181250
MONDO:0008402	cleft palate-large ears-small head syndrome	biolink:Disease	mondo	SCTID:763130006|GARD:0000162|UMLS:C1867023|OMIM:181180|ICD10:Q87.8|Orphanet:2013|MESH:C536621	gard_rare|ordo_malformation_syndrome	SAY syndrome|cleft palate, microcephaly, large ears, and short stature|Say-Barber-Hobbs syndrome|Say Barber Hobbs syndrome|cleft palate large ears small head	http://purl.obolibrary.org/obo/MONDO_0008402	Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadia, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed.	ORPHA:2013|SNOMEDCT:763130006|UMLS:C1867023|http://identifiers.org/omim/181180|MESH:C536621
MONDO:0008401	pleomorphic adenoma	biolink:Disease	mondo	ICD10:D11.0|DOID:452|OMIM:181030|SCTID:447888006|MESH:D008949|Orphanet:454821|NCIT:C8602|EFO:1000384|ICDO:8940/0	ordo_histopathological_subtype	tumor, mixed, benign|Sgpa|mixed tumor of the salivary gland|salivary gland adenoma, pleomorphic|pleomorphic adenoma|pleomorphic salivary gland adenoma|Psa|pleomorphic adenoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0008401	A neoplasm characterized by the presence of benign epithelial and myoepithelial cells and a mesenchymal component that may contain mucoid, myxoid, cartilaginous, or osseous areas. It may be completely or partially encapsulated. It occurs in the parotid gland, submandibular gland, minor salivary glands in the oral cavity, upper respiratory tract, and nasal cavity and paranasal sinuses. It usually presents as a slow growing painless mass. Infrequently, patients may present with pain and facial palsy. It may recur after excision or transform to a malignant neoplasm (carcinoma ex pleomorphic adenoma).	DOID:452|ORPHA:454821|http://identifiers.org/omim/181030|NCIT:C8602|SNOMEDCT:447888006|MESH:D008949
MONDO:0008400	salivary duct calculi	biolink:Disease	mondo	OMIM:181010|MESH:D012465		salivary duct calculi|submandibular duct calculi|parotid duct calculi	http://purl.obolibrary.org/obo/MONDO_0008400	Presence of small calculi in the terminal salivary ducts (salivary sand), or stones (larger calculi) found in the larger ducts.	http://identifiers.org/omim/181010|MESH:D012465
NCBITaxon:5042	Eurotiales	organism taxon	mondo	GC_ID:1		green and blue molds|Elaphomycetales	http://purl.obolibrary.org/obo/NCBITaxon_5042		
UBERON:0005269	renal cortex vein	biolink:AnatomicalEntity	mondo			kidney cortex vein|renal cortex venous system	http://purl.obolibrary.org/obo/UBERON_0005269	Artery that receives blood from the renal cortex[MP, modified]	
UBERON:0005268	renal cortex artery	biolink:AnatomicalEntity	mondo			kidney cortex artery|renal cortex arterial system|renal cortex artery	http://purl.obolibrary.org/obo/UBERON_0005268	An artery that supplies the renal cortex.	
UBERON:0005255	pedal digit mesenchyme	biolink:AnatomicalEntity	mondo			toe mesenchyme|pedal digital ray mesenchyme|foot digit mesenchyme|finger ray mesenchyme|hind limb digit mesenchyme	http://purl.obolibrary.org/obo/UBERON_0005255	Mesenchyme that is part of a developing toe [Automatically generated definition].	
UBERON:0005254	upper leg mesenchyme	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005254	Mesenchyme that is part of a developing hindlimb stylopod [Automatically generated definition].	
UBERON:0005253	head mesenchyme	biolink:AnatomicalEntity	mondo			desmocranium|cranial mesenchyme|cephalic mesenchyme	http://purl.obolibrary.org/obo/UBERON_0005253	Portion of primordial embryonic connective tissue of the developing head, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells.	
UBERON:0005251	yolk sac cavity	biolink:AnatomicalEntity	mondo			yolk sac space|cavity of yolk sac|yolk sac lumen	http://purl.obolibrary.org/obo/UBERON_0005251	An anatomical cavity that is part of a yolk sac [Automatically generated definition].	
UBERON:0005250	stomatodeum gland	biolink:AnatomicalEntity	mondo			stomatodaeum gland	http://purl.obolibrary.org/obo/UBERON_0005250	A gland that is part of a stomodeum.	
NCBITaxon:5014	Dothideales	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_5014		
HGNC:3467	ESR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3467		
UBERON:0005259	lower leg mesenchyme	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005259	Mesenchyme that is part of a developing lower leg [Automatically generated definition].	
UBERON:0005258	upper arm mesenchyme	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005258	Mesenchyme that is part of a developing forelimb stylopod [Automatically generated definition].	
UBERON:0005257	manual digit mesenchyme	biolink:AnatomicalEntity	mondo			finger mesenchyme|manual digital ray mesenchyme|anterior limb digital ray mesenchyme|fore limb digit mesenchyme|hand digit mesenchyme|finger ray mesenchyme	http://purl.obolibrary.org/obo/UBERON_0005257	Mesenchyme that is part of a developing finger [Automatically generated definition].	
UBERON:0005256	trunk mesenchyme	biolink:AnatomicalEntity	mondo			trunk and cervical mesenchyme	http://purl.obolibrary.org/obo/UBERON_0005256	Mesenchyme that is part of a developing trunk.	
CHEBI:68452	azole	biolink:ChemicalSubstance	mondo			azoles	http://purl.obolibrary.org/obo/CHEBI_68452	Any monocyclic heteroarene consisting of a five-membered ring containing nitrogen. Azoles can also contain one or more other non-carbon atoms, such as nitrogen, sulfur or oxygen.	
HGNC:18708	GRIP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18708		
HGNC:3473	ESRRB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3473		
UBERON:0005243	interventricular septum endocardium	biolink:AnatomicalEntity	mondo			interventricular septum endocardial tissue|endocardium of interventricular septum	http://purl.obolibrary.org/obo/UBERON_0005243	An endocardium that is part of a interventricular septum [Automatically generated definition].	
HGNC:18704	NAA10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18704		
NCBITaxon:41283	Chrysosporium parvum	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_41283		
UBERON:0005249	metanephric renal pelvis	biolink:AnatomicalEntity	mondo			metanephros pelvis	http://purl.obolibrary.org/obo/UBERON_0005249	A renal pelvis that is part of a metanephros.	
UBERON:0005248	bulbus cordis myocardium	biolink:AnatomicalEntity	mondo			bulbus cordis cardiac muscle	http://purl.obolibrary.org/obo/UBERON_0005248	A myocardium that is part of a bulbus cordis [Automatically generated definition].	
NCBITaxon:53258	Variola minor virus	organism taxon	mondo	GC_ID:1		Variola virus subsp. minor	http://purl.obolibrary.org/obo/NCBITaxon_53258		
HP:0003508	Proportionate short stature	biolink:PhenotypicFeature	mondo	UMLS:C0878660		Short stature, proportionate|Proportionate small stature	http://purl.obolibrary.org/obo/HP_0003508	A kind of short stature in which different regions of the body are shortened to a comparable extent.	
UBERON:0007806	connecting stalk	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0007806	A bridge of mesoderm connecting the caudal end of the young embryo with the trophoblastic tissues; the precursor of the umbilical cord.	
UBERON:0007807	connecting stalk vasculature	biolink:AnatomicalEntity	mondo			connecting stalk blood vessel|connecting stalk blood vessels|vasculature of connecting stalk	http://purl.obolibrary.org/obo/UBERON_0007807	A vasculature that is part of a connecting stalk.	
UBERON:0007808	adipose tissue of abdominal region	biolink:AnatomicalEntity	mondo			abdominal adipose tissue|intra-abdominal fat|abdominal fat	http://purl.obolibrary.org/obo/UBERON_0007808	Adipose tissue that is located in the abdominal region. This includes any subcutaneous fat, visceral fat or encapsulated adipose tissue depots.	
NCBITaxon:138951	Enterovirus D	organism taxon	mondo	GC_ID:1		Enterovirus EV-D|Human enterovirus D	http://purl.obolibrary.org/obo/NCBITaxon_138951		
GO:0016229	steroid dehydrogenase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016229	Catalysis of an oxidation-reduction (redox) reaction in which one substrate is a sterol derivative.	
UBERON:0007811	craniocervical region	biolink:AnatomicalEntity	mondo			cephalic area|head or neck|cephalic part of animal|head and neck|cephalic region	http://purl.obolibrary.org/obo/UBERON_0007811	The anteriormost subdivision of the body that includes the head, jaws, pharyngeal region and the neck (if present). In vertebrates this is the subdivision that includes the cervical vertebrae.	
UBERON:0007812	post-anal tail	biolink:AnatomicalEntity	mondo			post-vent region|postanal tail|muscular postanal tail|post-anal fin tail	http://purl.obolibrary.org/obo/UBERON_0007812	A tail that extends from the posterior tip of the organism to the anus, contains muscle and skeleton.	
NCBITaxon:138948	Enterovirus A	organism taxon	mondo	GC_ID:1		Human enterovirus A|Human coxsackievirus A|Coxsackievirus A|Enterovirus EV-A	http://purl.obolibrary.org/obo/NCBITaxon_138948		
NCBITaxon:138949	Enterovirus B	organism taxon	mondo	GC_ID:1		Human enterovirus B|Enterovirus EV-B	http://purl.obolibrary.org/obo/NCBITaxon_138949		
GO:0004252	serine-type endopeptidase activity	biolink:OntologyClass	mondo			serine elastase activity|blood coagulation factor activity	http://purl.obolibrary.org/obo/GO_0004252	Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine).	
HP:0003510	Severe short stature	biolink:PhenotypicFeature	mondo	UMLS:C0013336|SNOMEDCT_US:237837007|SNOMEDCT_US:237836003|SNOMEDCT_US:422065006|MSH:D004392		Proportionate dwarfism|Severe short stature|Short stature, severe|Dwarfism|Short stature, extreme	http://purl.obolibrary.org/obo/HP_0003510	A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.	
NCBITaxon:138950	Enterovirus C	organism taxon	mondo	GC_ID:1		Enterovirus EV-C|Poliovirus|Human enterovirus C	http://purl.obolibrary.org/obo/NCBITaxon_138950		
GO:0006885	regulation of pH	biolink:OntologyClass	mondo			hydrogen ion homeostasis	http://purl.obolibrary.org/obo/GO_0006885	Any process involved in the maintenance of an internal equilibrium of hydrogen ions, thereby modulating the internal pH, within an organism or cell.	
GO:0006886	intracellular protein transport	biolink:OntologyClass	mondo			copper-induced intracellular protein transport	http://purl.obolibrary.org/obo/GO_0006886	The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell.	
CHEBI:32486	L-phenylalaninate	biolink:ChemicalSubstance	mondo			L-phenylalanine anion|(2S)-2-amino-3-phenylpropanoate|L-phenylalaninate	http://purl.obolibrary.org/obo/CHEBI_32486	An optically active form of phenylalaninate having L-configuration.	
GO:0016209	antioxidant activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016209	Inhibition of the reactions brought about by dioxygen (O2) or peroxides. Usually the antioxidant is effective because it can itself be more easily oxidized than the substance protected. The term is often applied to components that can trap free radicals, thereby breaking the chain reaction that normally leads to extensive biological damage.	
CHEBI:32487	L-phenylalaninium	biolink:ChemicalSubstance	mondo			L-phenylalaninium|L-phenylalanine cation|(1S)-1-carboxy-2-phenylethanaminium	http://purl.obolibrary.org/obo/CHEBI_32487	An optically active form of phenylalaninium having L-configuration.	
GO:0016202	regulation of striated muscle tissue development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0016202	Any process that modulates the frequency, rate or extent of striated muscle development.	
FOODON:00002505	dairy cattle	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00002505	Dairy cattle are a type of cattle bred for the ability to produce large quantities of milk, from which dairy products are made.  This class covers both male and female members of a dairy breed.	
FOODON:00002507	taurine cattle	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00002507	Taurine cattle (Bos taurus taurus), also called European cattle, are a subspecies of domesticated cattle originating in the Near East. Both taurine cattle and indicine cattle (zebus) are descended from the aurochs. Taurine cattle were originally considered a distinct species, but are now typically grouped with zebus and aurochs into one species, Bos taurus. Most modern breeds of cattle are taurine cattle.	
NCBITaxon:5052	Aspergillus <genus>	organism taxon	mondo	PMID:20141373|PMID:28082760|GC_ID:1		Aspergillus|Petromyces|Polypaecilum|Phialosimplex	http://purl.obolibrary.org/obo/NCBITaxon_5052		
GO:0006898	receptor-mediated endocytosis	biolink:OntologyClass	mondo			receptor mediated endocytosis	http://purl.obolibrary.org/obo/GO_0006898	An endocytosis process in which cell surface receptors ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles.	
GO:0006897	endocytosis	biolink:OntologyClass	mondo			endocytic import into cell|vesicle endocytosis|plasma membrane invagination|nonselective vesicle endocytosis	http://purl.obolibrary.org/obo/GO_0006897	A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle.	
CHEBI:32494	D-phenylalaninate	biolink:ChemicalSubstance	mondo			D-phenylalaninate|(2R)-2-amino-3-phenylpropanoate|D-phenylalanine anion	http://purl.obolibrary.org/obo/CHEBI_32494	The D-enantiomer of phenylalaninate.	
NCBITaxon:5061	Aspergillus niger	organism taxon	mondo	PMID:21892240|GC_ID:1		Aspergillus lacticoffeatus	http://purl.obolibrary.org/obo/NCBITaxon_5061		
CHEBI:32495	D-phenylalaninium	biolink:ChemicalSubstance	mondo			(1R)-1-carboxy-2-phenylethanaminium|D-phenylalaninium|D-phenylalanine cation	http://purl.obolibrary.org/obo/CHEBI_32495	An optically active form of phenylalaninium having D-configuration.	
GO:0090154	positive regulation of sphingolipid biosynthetic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0090154	Any process that increases the rate, frequency or extent of sphingolipid biosynthesis. Sphingolipid biosynthesis is the chemical reactions and pathways resulting in the formation of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid).	
GO:0090155	negative regulation of sphingolipid biosynthetic process	biolink:OntologyClass	mondo			negative regulation of sphingolipid biosynthesis involved in cellular sphingolipid homeostasis	http://purl.obolibrary.org/obo/GO_0090155	Any process that decreases the rate, frequency or extent of sphingolipid biosynthesis. Sphingolipid biosynthesis is the chemical reactions and pathways resulting in the formation of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid).	
GO:0090153	regulation of sphingolipid biosynthetic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0090153	Any process that modulates the rate, frequency or extent of sphingolipid biosynthesis. Sphingolipid biosynthesis is the chemical reactions and pathways resulting in the formation of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid).	
GO:0006869	lipid transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0006869	The directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent.	
GO:0006865	amino acid transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0006865	The directed movement of amino acids, organic acids containing one or more amino substituents, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
HP:0003549	Abnormality of connective tissue	biolink:PhenotypicFeature	mondo	UMLS:C4025596			http://purl.obolibrary.org/obo/HP_0003549	Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat).	
GO:0006860	extracellular amino acid transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0006860	The directed extracellular movement of amino acids.	
PATO:0001374	ploidy	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0001374	A cellular quality inhering in a bearer by virtue of the bearer's number of homologous sets of chromosomes in the nucleus or primary chromosome-containing compartment of the cell, each set essentially coding for all the biological traits of the organism.	
PATO:0001375	haploid	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0001375	A ploidy quality inhering in a bearer by virtue of the bearer's containing a single set of homologous chromosomes.	
GO:0006878	cellular copper ion homeostasis	biolink:OntologyClass	mondo			copper homeostasis	http://purl.obolibrary.org/obo/GO_0006878	Any process involved in the maintenance of an internal steady state of copper ions at the level of a cell.	
GO:0006879	cellular iron ion homeostasis	biolink:OntologyClass	mondo			iron homeostasis	http://purl.obolibrary.org/obo/GO_0006879	Any process involved in the maintenance of an internal steady state of iron ions at the level of a cell.	
GO:0006874	cellular calcium ion homeostasis	biolink:OntologyClass	mondo			regulation of calcium ion concentration	http://purl.obolibrary.org/obo/GO_0006874	Any process involved in the maintenance of an internal steady state of calcium ions at the level of a cell.	
GO:0006875	cellular metal ion homeostasis	biolink:OntologyClass	mondo			cellular heavy metal ion homeostasis	http://purl.obolibrary.org/obo/GO_0006875	Any process involved in the maintenance of an internal steady state of metal ions at the level of a cell.	
GO:0006873	cellular ion homeostasis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0006873	Any process involved in the maintenance of an internal steady state of ions at the level of a cell.	
UBERON:0007842	membrane bone	biolink:AnatomicalEntity	mondo			membrane bones	http://purl.obolibrary.org/obo/UBERON_0007842	Bone element that arises as a result of intramembranous ossification.	
UBERON:0007844	cartilage element	biolink:AnatomicalEntity	mondo			chondrogenic element|cartilage|cartilage organ|cartilaginous element	http://purl.obolibrary.org/obo/UBERON_0007844	Skeletal element that is composed of cartilage tissue and may be permanent or transient.	
HP:0003552	Muscle stiffness	biolink:PhenotypicFeature	mondo	UMLS:C0221170|SNOMEDCT_US:16046003			http://purl.obolibrary.org/obo/HP_0003552	A condition in which muscles cannot be moved quickly without accompanying pain or spasm.	
UBERON:0007845	regular connective tissue	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0007845	Connective tissue, which consists of fibroblasts, the intercellular matrix of which contains a regular network of collagen and elastic fiber bundles. Examples: bone (tissue), cartilage (tissue), dense regular connective tissue.	
UBERON:0007846	dense regular connective tissue	biolink:AnatomicalEntity	mondo			dense regular collagenous tissue|dense regular collagenous connective tissue|typus regularis (textus connectivus collagenosus compactus)|regular dense connective tissue|dense fibrous connective tissue	http://purl.obolibrary.org/obo/UBERON_0007846	Connective tissue that is dominated by collagen fibres organized into a definitive pattern (e.g., parallel to one another), with comparatively fewer cells (mostly fibroblasts).	
GO:0090181	regulation of cholesterol metabolic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0090181	Any process that modulates the rate, frequency, or extent of cholesterol metabolism, the chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones.	
UBERON:0007827	external nose	biolink:AnatomicalEntity	mondo			nose	http://purl.obolibrary.org/obo/UBERON_0007827	External part of the nose containing the external nares.	
UBERON:0007828	girdle bone/zone	biolink:AnatomicalEntity	mondo			girdle bone	http://purl.obolibrary.org/obo/UBERON_0007828	A bone that is part of a appendage girdle region.	
UBERON:0007829	pectoral girdle bone	biolink:AnatomicalEntity	mondo			bone of pectoral girdle	http://purl.obolibrary.org/obo/UBERON_0007829	A bone that is part of a pectoral girdle region.	
UBERON:0007830	pelvic girdle bone/zone	biolink:AnatomicalEntity	mondo			bone of pelvic girdle|pelvic girdle bone	http://purl.obolibrary.org/obo/UBERON_0007830	A bone element or fused bone that is part of pelvic girdle.	
PATO:0001394	diploid	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0001394	A ploidy quality inhering in a bearer by virtue of the bearer's having two copies (homologs) of each chromosome, usually one from the mother and one from the father.	
HP:0003521	Disproportionate short-trunk short stature	biolink:PhenotypicFeature	mondo	UMLS:C1846435		Disproportionate short-trunked dwarfism|Short-trunked dwarfism|Disproportionate short-trunked short stature	http://purl.obolibrary.org/obo/HP_0003521	A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.	
UBERON:0007831	pectoral girdle skeleton	biolink:AnatomicalEntity	mondo			skeletal parts of pectoral girdle|pectoral girdle|skeleton of pectoral girdle|scapular girdle|cingulum pectorale	http://purl.obolibrary.org/obo/UBERON_0007831	A subdivision of a limb or fin skeleton consisting of bones which connects the upper limb or fin to the axial skeleton on each side. It consists of the clavicle and scapula in humans and, in those species with three bones in the pectoral girdle, the coracoid. Some mammalian species (e.g. the dog and the horse) have only the scapula. In humans, the only joints between the shoulder girdle and axial skeleton are the sternoclavicular joints on each side. No joint exists between each scapula and the rib cage; instead the muscular connection between the two permits relatively great mobility of the shoulder girdle in relation to the pelvic girdle. In those species having only the scapula, no joint exists between the forelimb and the thorax, the only attachment being muscular[WP]. Examples: There are only two instances, right and left pectoral girdle skeletons.	
NCBITaxon:5094	Talaromyces	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_5094		
UBERON:0007832	pelvic girdle skeleton	biolink:AnatomicalEntity	mondo			pelvic girdle skeleton|skeletal parts of pelvic girdle|pelvic girdle|skeleton of pelvic girdle	http://purl.obolibrary.org/obo/UBERON_0007832	Skeletal subdivision consisting of a set of bones linking the axial series to the hindlimb zeugopodium and offering anchoring areas for hindlimb and caudal musculature.	
PATO:0001393	euploid	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0001393	A ploidy quality inhering in a bearer by virtue of the bearer's containing an integral multiple of the monoploid number, possibly excluding the sex-determining chromosomes.	
PATO:0001396	cellular quality	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0001396	A monadic quality of continuant that exists at the cellular level of organisation.	
PATO:0001397	cellular potency	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0001397	A cellular quality that arises by virtue of whether the bearer's disposition to differentiate into one or more mature cell types.	
GO:0006858	extracellular transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0006858	The transport of substances that occurs outside cells.	
GO:0006859	extracellular carbohydrate transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0006859	The directed extracellular movement of carbohydrates.	
GO:0006855	drug transmembrane transport	biolink:OntologyClass	mondo			multidrug transport|drug membrane transport	http://purl.obolibrary.org/obo/GO_0006855	The process in which a drug is transported across a membrane.	
UBERON:0007823	appendage girdle region	biolink:AnatomicalEntity	mondo			girdle region|limb girdle|limb girdle region|girdle|fin girdle region|fin girdle	http://purl.obolibrary.org/obo/UBERON_0007823	An organism subdivision that encompasses the region containing the pectoral or pelvic girdle. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc).	
UBERON:0007826	peritoneal mesentery	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0007826	Mesentery that is located in the peritoneum.	
UBERON:0001309	internal iliac artery	biolink:AnatomicalEntity	mondo			hypogastric artery|arteria iliaca interna	http://purl.obolibrary.org/obo/UBERON_0001309	The internal iliac artery (formerly known as the hypogastric artery) is the main artery of the pelvis. [WP,unvetted].	
UBERON:0001308	external iliac artery	biolink:AnatomicalEntity	mondo			arteria iliaca externa	http://purl.obolibrary.org/obo/UBERON_0001308	The external iliac artery is a large artery in the pelvic region that carries blood to the lower limb. The external iliac artery is a paired artery, meaning there is one on each side of the body: a right external iliac artery and left external iliac artery. The external iliac artery is accompanied by the external iliac vein, which is located posterior to the artery. [WP,unvetted].	
HP:0030050	Narcolepsy	biolink:PhenotypicFeature	mondo	MSH:D009290|UMLS:C0027404|SNOMEDCT_US:60380001			http://purl.obolibrary.org/obo/HP_0030050	An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis.	
UBERON:0001305	ovarian follicle	biolink:AnatomicalEntity	mondo			egg follicle|folliculi ovarici primarii|follicle of ovary|ovary follicle|follicle of ovary viewed macroscopically|folliculi ovarici vesiculosi	http://purl.obolibrary.org/obo/UBERON_0001305	A spherical aggregation of cells in the ovary that contains a single oocyte[WP,modified].	
UBERON:0003968	peripheral lymph node	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0003968	The lymph nodes located outside the thoracic and abdominal cavities, such as the submandibular, prescapular, axillary, inguinal and popliteal lymph nodes	
UBERON:0001304	germinal epithelium of ovary	biolink:AnatomicalEntity	mondo			ovary germinal epithelium|surface epithelium of ovary|ovarian surface epithelium|germinal epithelium (female)|epithelium superficiale (ovarium)|ovary surface epithelium|female coelomic epithelium	http://purl.obolibrary.org/obo/UBERON_0001304	layer of simple cuboidal cells covering surface of ovary[WP].	
UBERON:0001307	capsule of ovary	biolink:AnatomicalEntity	mondo			ovary capsule|ovarian capsule	http://purl.obolibrary.org/obo/UBERON_0001307	A capsule that surrounds a female gonad.	
UBERON:0003967	cutaneous elastic tissue	biolink:AnatomicalEntity	mondo			dermal elastic fiber|cutaneous elastic fiber	http://purl.obolibrary.org/obo/UBERON_0003967	The slender connective tissue fiber in the extracellular matrix of skin tissue that is composed of microfibrils and amorphous elastin and is characterized by great elasticity	
NCBITaxon:33090	Viridiplantae	organism taxon	mondo	GC_ID:1|PMID:16248873|PMID:30257078		Chlorobionta|chlorophyte/embryophyte group|chlorophyte/embryophyte group|Chloroplastida|green plants|Chlorophyta/Embryophyta group|green plants|Chlorophyta/Embryophyta group	http://purl.obolibrary.org/obo/NCBITaxon_33090		
UBERON:0003975	internal female genitalia	biolink:AnatomicalEntity	mondo			female internal genitalia|internal female genital organ|organa genitalia feminina interna|internal genitalia of female reproductive system	http://purl.obolibrary.org/obo/UBERON_0003975	The internal feminine genital organs, including the ovaries, uterine tubes, uterus, uterine cervix, and vagina.	
UBERON:0001312	superior vesical artery	biolink:AnatomicalEntity	mondo			arteria vesicali superior|arteriae vesicales superiores|arteria vesicalis superior	http://purl.obolibrary.org/obo/UBERON_0001312	An artery that supplies blood to the upper urinary bladder.	
UBERON:0001311	inferior vesical artery	biolink:AnatomicalEntity	mondo			arteria vesicalis inferior|arteria vesicali inferior|arteria vesicalis inferior	http://purl.obolibrary.org/obo/UBERON_0001311	An artery that supplies blood to the lower urinary bladder.	
UBERON:0001310	umbilical artery	biolink:AnatomicalEntity	mondo			a. umbilicalis	http://purl.obolibrary.org/obo/UBERON_0001310	The umbilical artery is a paired artery (with one for each half of the body) that is found in the abdominal and pelvic regions. In the fetus, it extends into the umbilical cord. [WP,unvetted].	
SO:0000159	deletion	biolink:SequenceFeature	mondo			deleted_sequence|nucleotide deletion|nucleotide_deletion	http://purl.obolibrary.org/obo/SO_0000159	The point at which one or more contiguous nucleotides were excised.	
NCBITaxon:57077	Dicrocoelium	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_57077		
UBERON:0003959	rete testis	biolink:AnatomicalEntity	mondo			Haller's rete	http://purl.obolibrary.org/obo/UBERON_0003959	An anastomosing network of delicate tubules located in the hilum of the testicle (mediastinum testis) that carries sperm from the seminiferous tubules to the vasa efferentia[WP].	
UBERON:0003957	Bruch's membrane	biolink:AnatomicalEntity	mondo			basal lamina of choroid|Bruch's basal membrane|lamina choroideae basalis|lamina basalis (choroid)|vitreous lamina|lamina basilis|Bruch membrane	http://purl.obolibrary.org/obo/UBERON_0003957	A transparent, nearly structureless innermost layer of the choroid in contact with the pigmented layer of the retina.	
NCBITaxon:33084	Entamoebidae	organism taxon	mondo	GC_ID:1		Entamoebida	http://purl.obolibrary.org/obo/NCBITaxon_33084		
UBERON:0001301	epididymis	biolink:AnatomicalEntity	mondo			Nebenhoden@de	http://purl.obolibrary.org/obo/UBERON_0001301	the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens	
UBERON:0001300	scrotum	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0001300	the external sac of skin that encloses the testes. It is an extension of the abdomen, and in placentals is located between the penis and anus.	
UBERON:0001303	left uterine tube	biolink:AnatomicalEntity	mondo			left fallopian tube|left oviduct	http://purl.obolibrary.org/obo/UBERON_0001303	A fallopian tube that is part of a left side of organism [Automatically generated definition].	
UBERON:0001302	right uterine tube	biolink:AnatomicalEntity	mondo			right oviduct|right fallopian tube	http://purl.obolibrary.org/obo/UBERON_0001302	A fallopian tube that is part of a right side of organism [Automatically generated definition].	
UBERON:0003963	otic ganglion	biolink:AnatomicalEntity	mondo			otic parasympathetic ganglion|Arnold's ganglion|ganglion oticum	http://purl.obolibrary.org/obo/UBERON_0003963	The ganglion that supplies nerve fibers to the parotid gland	
UBERON:0003947	brain ventricle/choroid plexus	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0003947	The brain ventricles or their associated choroid plexuses	
SO:0000185	primary_transcript	biolink:SequenceFeature	mondo			precursor RNA|INSDC_feature:precursor_RNA|INSDC_feature:prim_transcript|primary transcript	http://purl.obolibrary.org/obo/SO_0000185	A transcript that in its initial state requires modification to be functional.	
CHEBI:22160	acetamides	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_22160	Compounds with the general formula RNHC(=O)CH3.	
UBERON:0003953	posterior stroma of cornea	biolink:AnatomicalEntity	mondo			cornea posterior stroma|posterior stroma	http://purl.obolibrary.org/obo/UBERON_0003953	The posterior segment of the lamellated connective tissue layer of the cornea	
UBERON:0003952	anterior stroma of cornea	biolink:AnatomicalEntity	mondo			anterior stroma|cornea anterior stroma	http://purl.obolibrary.org/obo/UBERON_0003952	The anterior segment of the lamellated connective tissue layer of the cornea	
UBERON:0003937	reproductive gland	biolink:AnatomicalEntity	mondo			sex gland|gland of reproductive system|reproductive system gland|gland of genitalia|genitalia gland|reproductive gland	http://purl.obolibrary.org/obo/UBERON_0003937	Any of the organized aggregations of cells that function as secretory or excretory organs and are associated with reproduction.	
HP:0030082	Abnormal drinking behavior	biolink:PhenotypicFeature	mondo	UMLS:C4022657		Abnormal drinking behavior|Abnormal drinking behaviour	http://purl.obolibrary.org/obo/HP_0030082	Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption.	
UBERON:0003933	cranial cartilage	biolink:AnatomicalEntity	mondo			cranium cartilage|cartilage of cranium|cranial cartilages	http://purl.obolibrary.org/obo/UBERON_0003933	A cartilage element that is part of the cranial skeleton.	
UBERON:0015917	superficial lymph node	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015917	A lymph node that is located close to the surface.	
UBERON:0015918	deep lymph node	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015918	A lymph node that is located deeper within the organism, further from the surface.	
UBERON:0003942	somatic sensory system	biolink:AnatomicalEntity	mondo			somatic sensory system|system for detection of somatic senses|somatosensory system	http://purl.obolibrary.org/obo/UBERON_0003942	The sensory system for the sense of touch and pain.	
MONDO:0004713	lower gum cancer	biolink:Disease	mondo	ICD9:143.1|UMLS:C0432581|ICD10:C03.1|DOID:9125|SCTID:363384006		malignant gingiva of lower jaw neoplasm|malignant tumour of lower gum|malignant neoplasm of gingiva of lower jaw|malignant tumor of lower gingiva|gingiva of lower jaw cancer|cancer of gingiva of lower jaw	http://purl.obolibrary.org/obo/MONDO_0004713	A cancer involving a gingiva of lower jaw.	UMLS:C0432581|SNOMEDCT:363384006|DOID:9125
MONDO:0004712	herpes simplex dermatitis	biolink:Disease	mondo	ICD9:054.0|NCIT:C35620|UMLS:C0854331|ICD9:054.41|ICD10:B00.0|DOID:9123|SCTID:186535001|MESH:D007617		Simplexvirus caused dermatitis|eczema herpeticum|herpes simplex virus eyelid dermatitis|Simplexvirus dermatitis|Herpes simplex dermatitis|Herpes simplex virus dermatitis|herpes simplex dermatitis|Herpes simplex dermatitis of eyelid|eczema herpeticum (disorder) [ambiguous]|Herpes simplex eyelid dermatitis	http://purl.obolibrary.org/obo/MONDO_0004712	Localized rash characterized by grouped vesicles or pustules on an erythematous base that is caused by herpes simplex virus infection.	SNOMEDCT:186535001|UMLS:C0854331|MESH:D007617|DOID:9123|NCIT:C35620
NCBITaxon:84642	Aeromonadaceae	organism taxon	mondo	GC_ID:11		Aeromonas group	http://purl.obolibrary.org/obo/NCBITaxon_84642		
MONDO:0004715	liver carcinoma in situ	biolink:Disease	mondo	ICD10:D01.5|UMLS:C0345908|SCTID:92644006|DOID:9132|ICD9:230.8		carcinoma in situ of liver and biliary system|stage 0 liver carcinoma|liver in situ carcinoma|carcinoma in situ of liver|carcinoma in situ of liver, gallbladder and bile ducts	http://purl.obolibrary.org/obo/MONDO_0004715	A carcinoma in situ involving a liver.	DOID:9132|SNOMEDCT:92644006|UMLS:C0345908
MONDO:0004714	atrophic muscular disease	biolink:Disease	mondo	NCIT:C84574|DOID:913		atrophic muscular disorder	http://purl.obolibrary.org/obo/MONDO_0004714	A group of primary or secondary disorders affecting the muscles. It is characterized by an abnormal reduction in the muscle volume and atrophy. The atrophy may be caused by diseases of the muscle tissues or diseases of the peripheral nerves.	DOID:913|NCIT:C84574
MONDO:0004711	obsolete amyloidosis (disease)	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004711		
MONDO:0004710	uterus carcinoma in situ	biolink:Disease	mondo	DOID:9108|SCTID:92788005|ICD9:233.2|UMLS:C0686237|COHD:192581		uterus in situ carcinoma|carcinoma in situ of uterus|stage 0 uterus carcinoma	http://purl.obolibrary.org/obo/MONDO_0004710	A carcinoma in situ involving a uterus.	DOID:9108|SNOMEDCT:92788005|UMLS:C0686237
HP:0030012	Abnormal female reproductive system physiology	biolink:PhenotypicFeature	mondo	UMLS:C4020714|UMLS:C4022678		Abnormal female reproductive system physiology|Abnormal female genital system physiology	http://purl.obolibrary.org/obo/HP_0030012		
HP:0030014	Female sexual dysfunction	biolink:PhenotypicFeature	mondo	UMLS:C1112442			http://purl.obolibrary.org/obo/HP_0030014	A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity	
MONDO:0016702	oligoastrocytoma	biolink:Disease	mondo	ICD10:C71.9|ONCOTREE:OAST|GARD:0009769|UMLS:C0280793|Orphanet:251656|MedDRA:10027744|SCTID:716647001|NCIT:C4050|DOID:7912|EFO:0000630	ordo_disease|gard_rare	mixed oligoastrocytoma|mixed astrocytoma-oligodendroglioma|WHO grade II mixed glioma|mixed oligo-astrocytoma|mixed astrocytic-oligodendroglial tumor|MOA|mixed oligodendroglioma-astrocytoma|glioma, mixed, benign|mixed astrocytic-oligodendroglial neoplasm|oligoastrocytoma	http://purl.obolibrary.org/obo/MONDO_0016702	A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)	SNOMEDCT:716647001|UMLS:C0280793|NCIT:C4050|ORPHA:251656|MEDDRA:10027744|DOID:7912
MONDO:0016703	anaplastic oligoastrocytoma	biolink:Disease	mondo	ONCOTREE:AOAST|NCIT:C6959|UMLS:C0431108|GARD:0010637|ICD10:C71.9|Orphanet:251663|EFO:0002500	gard_rare|ordo_disease	AOAST|anaplastic mixed glioma|aMOA|WHO grade III mixed glioma|anaplastic oligoastrocytoma	http://purl.obolibrary.org/obo/MONDO_0016703	An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity.	UMLS:C0431108|NCIT:C6959|ORPHA:251663
MONDO:0016704	glial tumor of neuroepithelial tissue with unknown origin	biolink:Disease	mondo	UMLS:CN201948|Orphanet:251668	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016704		UMLS:CN201948|ORPHA:251668
UBERON:0001350	coccyx	biolink:AnatomicalEntity	mondo			coccygeal skeleton|coccyx [coccygeal vertebrae I-IV]|coccygeal vertebrae I-IV|fused caudal vertebral column|os coccygis|tailbone|fused caudal vertebrae|coccyx [vertebrae coccygeae I-IV]|os coccygis	http://purl.obolibrary.org/obo/UBERON_0001350	A collection of caudal vertebrae in the coccygeal region that are fused and part of the bony pelvis.	
MONDO:0016705	angiocentric glioma	biolink:Disease	mondo	Orphanet:251671|ONCOTREE:ANGL|ICD10:C71.9|NCIT:C92552|ICDO:9431/1|UMLS:C2363903	ordo_disease	angiocentric glioma (WHO grade I)|Monomorphus angiocentric glioma|angiocentric neuroepithelial tumor|ANGL	http://purl.obolibrary.org/obo/MONDO_0016705	Angiocentric glioma (AG) is an extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis.	NCIT:C92552|ORPHA:251671|UMLS:C2363903
HP:0030016	Dyspareunia	biolink:PhenotypicFeature	mondo	UMLS:C1384606|SNOMEDCT_US:71315007|MSH:D004414			http://purl.obolibrary.org/obo/HP_0030016	Recurrent or persistent genital pain associated with sexual intercourse.	
MONDO:0016700	anaplastic ependymoma	biolink:Disease	mondo	ICD10:C71.9|MedDRA:10014968|Orphanet:251646|UMLS:C0280788|ICDO:9392/3|NCIT:C4049|GARD:0010634|ONCOTREE:APE	ordo_disease|gard_rare	undifferentiated ependymoma|anaplastic ependymoma|high-grade ependymoma|malignant ependymoma|undifferentiated ependymal neoplasm|WHO grade III ependymal tumor|anaplastic ependymal neoplasm|ependymoma, anaplastic, malignant|anaplastic ependymal tumor|WHO grade III ependymal neoplasm|undifferentiated ependymal tumor	http://purl.obolibrary.org/obo/MONDO_0016700	Anaplastic ependymoma is a rare, malignant type of ependymoma that most often arises in the supratentorial region of the brain of children and young adults and that manifests with variable symptoms including headaches, nausea, vision impairment, memory loss and difficulty walking.	UMLS:C0280788|ORPHA:251646|NCIT:C4049|MEDDRA:10014968
MONDO:0016701	oligoastrocytic tumor	biolink:Disease	mondo	UMLS:CN201945|Orphanet:251651	ordo_group_of_disorders	mixed oligodendroglial and astrocytic tumor	http://purl.obolibrary.org/obo/MONDO_0016701		ORPHA:251651|UMLS:CN201945
UBERON:0001356	medial circumflex femoral artery	biolink:AnatomicalEntity	mondo			medial femoral circumflex artery|arteria circumflexa femoris medialis	http://purl.obolibrary.org/obo/UBERON_0001356	The medial circumflex femoral artery (internal circumflex artery, medial femoral circumflex artery) is an artery in the upper thigh that helps supply blood to the neck of the femur. [WP,unvetted].	
MONDO:0004709	occipital lobe neoplasm	biolink:Disease	mondo	NCIT:C5574|UMLS:C0153638|SCTID:126957005|ICD9:191.4|ICD10:C71.4|DOID:910|UMLS:C1263889		neoplasm of the occipital lobe|tumor of occipital lobe|neoplasm of occipital lobe|occipital lobe tumor|tumor of the occipital lobe|malignant neoplasm of occipital lobe|occipital lobe neoplasm|occipital lobe neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0004709	A neoplasm involving a occipital lobe.	DOID:910|SNOMEDCT:126957005|UMLS:C1263889|NCIT:C5574|UMLS:C0153638
UBERON:0001355	deep femoral artery	biolink:AnatomicalEntity	mondo			arteria profunda femoris|profunda femoris artery	http://purl.obolibrary.org/obo/UBERON_0001355	The profunda femoris artery (also known as the deep femoral artery, or the deep artery of the thigh) is a branch of the femoral artery that, as its name suggests, travels more deeply (posteriorly) than the rest of the femoral artery. [WP,unvetted].	
MONDO:0004706	discoid lupus erythematosus of eyelid	biolink:Disease	mondo	UMLS:C0155180|ICD10:H01.12|COHD:432919|SCTID:79291003|ICD9:373.34|DOID:9076			http://purl.obolibrary.org/obo/MONDO_0004706		SNOMEDCT:79291003|UMLS:C0155180|DOID:9076
UBERON:0001352	external acoustic meatus	biolink:AnatomicalEntity	mondo			auditory canal|external auditory meatus|external auditory tube|ear canal|external acoustic tube|external auditory canal|auditory meatus	http://purl.obolibrary.org/obo/UBERON_0001352	A tube running from the outer ear to the middle ear. The human ear canal extends from the pinna to the eardrum and is about 26 mm in length and 7 mm in diameter.	
UBERON:0001351	lacrimal sac	biolink:AnatomicalEntity	mondo			lacrymal sac|saccus lacrimalis|lachrymal sac	http://purl.obolibrary.org/obo/UBERON_0001351	The upper dilated end of the nasolacrimal duct that is lodged in a deep groove formed by the lacrimal bone and frontal process of the maxilla; it connects the lacrimal canaliculi, which drain tears from the eye's surface, and the nasolacrimal duct, which conveys this fluid into the nasal cavity; like the nasolacrimal duct, the sac is lined by stratified columnar epithelium with mucus-secreting goblet cells, and is surrounded by connective tissue.	
MONDO:0004705	liver solitary fibrous tumor	biolink:Disease	mondo	NCIT:C5752|UMLS:C1333965|DOID:907		fibroma of the liver|liver solitary fibrous tumor|hepatic fibroma|liver localized fibrous mesothelioma|liver fibroma|fibroma of liver|liver localized fibrous tumor	http://purl.obolibrary.org/obo/MONDO_0004705	A solitary fibrous tumor that arises from the liver. It affects females more frequently than males. Signs and symptoms include the presence of an abdominal mass and abdominal discomfort.	UMLS:C1333965|DOID:907|NCIT:C5752
MONDO:0004708	esophagus carcinoma in situ	biolink:Disease	mondo	DOID:9095|UMLS:C0154059|COHD:28109|SCTID:92585006|NCIT:C89771|ICD10:D00.1|ICD9:230.1		severe esophageal dysplasia aJCC v7|stage 0 esophagus carcinoma|esophagus in situ carcinoma|stage 0 esophageal cancer aJCC v7|stage 0 esophageal carcinoma in situ|carcinoma in situ of esophagus|esophageal carcinoma in situ|severe esophageal dysplasia|stage 0 carcinoma of the esophagus|stage 0 esophageal cancer|esophageal carcinoma in situ aJCC v7	http://purl.obolibrary.org/obo/MONDO_0004708	Stage 0 includes: For squamous cell carcinoma: Tis (HGD), N0, M0, G1, GX, Tumor location: Any. For adenocarcinoma: Tis (HGD), N0, M0, G1, GX. Tis: High-grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)	NCIT:C89771|DOID:9095|UMLS:C0154059|SNOMEDCT:92585006
MONDO:0004707	anal canal carcinoma in situ	biolink:Disease	mondo	ICD9:230.6|DOID:9087|SCTID:92531006|NCIT:C7794|ICD9:230.5|UMLS:C2242854|UMLS:C0154064		stage 0 anal canal cancer aJCC v7|stage 0 anal canal cancer aJCC v6|stage 0 anal canal carcinoma|stage 0 anal canal carcinoma aJCC v6 and v7|carcinoma in situ of anus|anal carcinoma in situ|carcinoma in situ of anal canal|stage 0 anal canal cancer|stage 0 anal carcinoma in situ|stage 0 anal carcinoma aJCC v6 and v7|anal canal in situ carcinoma|anal intraepithelial neoplasia grade III|anal carcinoma stage 0|stage 0 anal canal cancer aJCC v6 and v7	http://purl.obolibrary.org/obo/MONDO_0004707	A carcinoma in situ involving a anal canal.	UMLS:C2242854|NCIT:C7794|UMLS:C0154064|SNOMEDCT:92531006|DOID:9087
UBERON:0001353	anal region	biolink:AnatomicalEntity	mondo			posterior end of organism|posterior	http://purl.obolibrary.org/obo/UBERON_0001353	The anus and surrounding regions. Encompasses both internal and external regions, where present	
MONDO:0004724	submandibular gland cancer	biolink:Disease	mondo	COHD:22557|SCTID:363380002|NCIT:C8396|UMLS:C0153360|ICD10:C08.0|ICD9:142.1|DOID:9173		malignant neoplasm of submaxillary gland|submandibular gland carcinoma|cancer of submandibular gland|malignant tumor of the submandibular gland|submandibular gland cancer|carcinoma of the submandibular gland|carcinoma of submandibular gland|malignant neoplasm of submandibular gland|malignant submandibular gland neoplasm|malignant tumor of submandibular gland	http://purl.obolibrary.org/obo/MONDO_0004724	A malignant neoplasm involving the submandibular gland.	DOID:9173|UMLS:C0153360|SNOMEDCT:363380002|NCIT:C8396
MONDO:0004723	liver leiomyoma	biolink:Disease	mondo	UMLS:C1333968|DOID:917|NCIT:C5753		liver leiomyoma|leiomyoma of liver|leiomyoma of the liver|hepatic leiomyoma	http://purl.obolibrary.org/obo/MONDO_0004723	A benign smooth muscle neoplasm arising from the liver. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	NCIT:C5753|UMLS:C1333968|DOID:917
MONDO:0004726	liver inflammatory myofibroblastic tumor	biolink:Disease	mondo	NCIT:C5858|SCTID:717329009|DOID:918|UMLS:C1333967|EFO:1000324		liver inflammatory pseudotumor|liver inflammatory myofibroblastic tumor|inflammatory pseudotumor of the liver|hepatic inflammatory myofibroblastic tumor|inflammatory pseudotumor of liver	http://purl.obolibrary.org/obo/MONDO_0004726	A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.	DOID:918|SNOMEDCT:717329009|NCIT:C5858|UMLS:C1333967
MONDO:0004725	rectum carcinoma in situ	biolink:Disease	mondo	NCIT:C4853|SCTID:308879003|COHD:75210|ICD10:D01.2|DOID:9174|ICD9:230.4|UMLS:C0154062		stage 0 rectal cancer aJCC v7|marked rectal dysplasia|stage 0 rectal cancer aJCC v6|marked dysplasia of rectum|carcinoma in situ of the rectum|stage 0 rectal cancer aJCC v6 and v7|marked dysplasia of the rectum|stage 0 carcinoma of rectum|severe rectal dysplasia|stage 0 carcinoma of the rectum|rectal carcinoma in situ|stage 0 rectal carcinoma|stage 0 rectum carcinoma|severe dysplasia of rectum|stage 0 rectal cancer|carcinoma in situ of rectum|severe dysplasia of the rectum|rectum in situ carcinoma	http://purl.obolibrary.org/obo/MONDO_0004725	A in situ carcinoma that involves the rectum.	SNOMEDCT:308879003|UMLS:C0154062|DOID:9174|NCIT:C4853
UBERON:0001338	urethral gland	biolink:AnatomicalEntity	mondo			urethra gland (male or female)|urethra gland|urethral mucuous gland|gland of urethra	http://purl.obolibrary.org/obo/UBERON_0001338	Any of the numerous small mucous-secreting glands located in the wall of the male or female urethra that help protect the epithelium from the corrosive urine	
MONDO:0004720	variola minor infection	biolink:Disease	mondo	NCIT:C34365|UMLS:C0001906|DOID:9153|SCTID:72294005|ICD9:050.1		whitepox|alastrim|cottonpox|milkpox|Variola minor	http://purl.obolibrary.org/obo/MONDO_0004720	A orthopoxvirus that causes a milder clinical syndrome than smallpox.	DOID:9153|NCIT:C34365|UMLS:C0001906|SNOMEDCT:72294005
MONDO:0004722	obsolete Wiskott-Aldrich syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004722		
MONDO:0004721	liver neoplasm	biolink:Disease	mondo	NCIT:C7106|UMLS:C0023903|SCTID:126851005|EFO:1001513|DOID:916|ONCOTREE:LIVER		epithelial hepatic and intrahepatic bile duct neoplasm|liver and intrahepatic bile duct epithelial neoplasm|liver neoplasm (disease)|neoplasm of liver|liver tumor|tumor of liver	http://purl.obolibrary.org/obo/MONDO_0004721	A benign or malignant epithelial neoplasm that affects the liver parenchyma and intrahepatic bile ducts. Representative examples of benign epithelial neoplasms include hepatocellular adenoma and intrahepatic bile duct adenoma. Representative examples of malignant epithelial neoplasms include hepatocellular carcinoma and intrahepatic cholangiocarcinoma.	UMLS:C0023903|SNOMEDCT:126851005|DOID:916|NCIT:C7106
UBERON:0001344	epithelium of vagina	biolink:AnatomicalEntity	mondo			epithelium, vaginal|vagina epithelial tissue|vagina epithelium|epithelial tissue of vagina|vaginal epithelium	http://purl.obolibrary.org/obo/UBERON_0001344	The epithelial layer of the vagina.	
MONDO:0004717	peliosis hepatis	biolink:Disease	mondo	DOID:914|ICD10:K76.4|EFO:1001387|UMLS:C0030781|SCTID:58008004|MESH:D010382		hepatic peliosis	http://purl.obolibrary.org/obo/MONDO_0004717	A vascular disease of the liver characterized by the occurrence of multiple blood-filled cysts or cavities. The cysts are lined with endothelial cells; the cavities lined with hepatic parenchymal cells (hepatocytes). Peliosis hepatis has been associated with use of anabolic steroids (anabolic agents) and certain drugs.	UMLS:C0030781|SNOMEDCT:58008004|DOID:914|MESH:D010382
MONDO:0004716	stomach carcinoma in situ	biolink:Disease	mondo	ICD10:D00.2|COHD:200974|ICD9:230.2|DOID:9138|UMLS:C0154060|SCTID:92756002|NCIT:C7788		stage 0 gastric cancer aJCC v6|stomach carcinoma in situ|stage 0 gastric (stomach) cancer|stage 0 stomach carcinoma|stomach carcinoma stage 0|stomach in situ carcinoma|stage 0 carcinoma of the stomach|stage 0 gastric cancer aJCC v6 and v7|stage 0 gastric cancer|stage 0 carcinoma of stomach|stage 0 gastric carcinoma in situ|stage 0 gastric carcinoma|carcinoma of the stomach stage 0|carcinoma in situ of the stomach|gastric carcinoma stage 0|carcinoma of stomach stage 0|gastric carcinoma in situ|stage 0 stomach cancer|carcinoma in situ of stomach|gastric carcinoma, stage 0|stage 0 gastric cancer aJCC v7	http://purl.obolibrary.org/obo/MONDO_0004716	A in situ carcinoma that involves the stomach.	SNOMEDCT:92756002|NCIT:C7788|UMLS:C0154060|DOID:9138
MONDO:0004719	hard palate cancer	biolink:Disease	mondo	SCTID:363387004|ICD9:145.2|NCIT:C3528|DOID:9149|UMLS:C0153375|ICD10:C05.0		hard palate|malignant tumour of hard palate|malignant tumor of the hard palate|malignant neoplasm of the hard palate|malignant neoplasm of hard palate|cancer of hard palate|malignant hard palate tumor|hard palate cancer|malignant tumor of hard palate|malignant hard palate neoplasm	http://purl.obolibrary.org/obo/MONDO_0004719	A malignant neoplasm involving the hard palate.	SNOMEDCT:363387004|DOID:9149|UMLS:C0153375|NCIT:C3528
UBERON:0001343	seminiferous tubule of testis	biolink:AnatomicalEntity	mondo			seminiferous cord|seminiferous tubule|tubuli seminiferi|testis - seminiferous tubule|tubuli seminiferi	http://purl.obolibrary.org/obo/UBERON_0001343	The tubules in the testes where spermatogenesis occurs.	
MONDO:0004718	xeroderma of eyelid	biolink:Disease	mondo	DOID:9140|UMLS:C0155179|SCTID:55846006|ICD9:373.33|ICD10:H01.14			http://purl.obolibrary.org/obo/MONDO_0004718		UMLS:C0155179|SNOMEDCT:55846006|DOID:9140
UBERON:0001326	levator ani muscle	biolink:AnatomicalEntity	mondo			levator ani|musculus levator ani	http://purl.obolibrary.org/obo/UBERON_0001326	The Levator ani is a broad, thin muscle, situated on the side of the pelvis. It is attached to the inner surface of the side of the lesser pelvis, and unites with its fellow of the opposite side to form the greater part of the floor of the pelvic cavity. It supports the viscera in pelvic cavity, and surrounds the various structures which pass through it. In combination with the Coccygeus muscle, it forms the pelvic diaphragm. [WP,unvetted].	
UBERON:0003988	thymus corticomedullary boundary	biolink:AnatomicalEntity	mondo			thymic cortico-medullary boundary|thymic corticomedullary junction|thymus cortico-medullary boundary|thymus corticomedullary zone|thymus CMZ|thymic corticomedullary zone|thymic corticomedullary boundary|thymus corticomedullary junction	http://purl.obolibrary.org/obo/UBERON_0003988	The dense region demarcating the thymus medulla from the surrounding cortex that is characterized by numerous blood vessels (predominantly arterioles) with some perivascular connective tissue, mature and immature T lymphocytes, dendritic cells, variable numbers of perivascular B-lymphocytes and plasma cells; site of entry of bone marrow stem cells and exit of mature, functional T cells	
HGNC:16192	SLC17A9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16192		
UBERON:0001328	lobe of prostate	biolink:AnatomicalEntity	mondo			prostate gland lobe|prostatic lobe|lobe of prostate gland	http://purl.obolibrary.org/obo/UBERON_0001328	A portion of a prostate that forms a lobe.	
HGNC:28178	CCDC115	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28178		
UBERON:0001334	female urethra	biolink:AnatomicalEntity	mondo			urethra feminina|urethra muliebris	http://purl.obolibrary.org/obo/UBERON_0001334	A urethra that is part of a female reproductive system.	
UBERON:0001333	male urethra	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0001333	A urethra that is part of a male reproductive system.	
UBERON:0001335	prostatic urethra	biolink:AnatomicalEntity	mondo			prostatic part of urethra|prostatic part of male urethra|pars prostatica urethrae|male prostatic urethra|pars prostatica urethrae	http://purl.obolibrary.org/obo/UBERON_0001335	the widest and most dilatable part of the male urethra canal which runs almost vertically through the prostate from its base to its apex, lying nearer its anterior than its posterior surface; this portion of the urethral canal is spindle-shaped, being wider in the middle than at either extremity, and narrowest below, where it joins the membranous portion; it is lined by transitional epithelium and contains in its posterior wall, or floor, the orifices of the prostatic utricle, ejaculatory ducts, and prostatic ducts, collectively known as the seminal colliculus (aka verumontanum)	
UBERON:0001330	pampiniform plexus	biolink:AnatomicalEntity	mondo			venous plexus of fascia of prostate gland|venous plexus of fascia of prostate|pampiniform venous plexus|plexus of veins of fascia of prostate|plexus venosus pampiniformis	http://purl.obolibrary.org/obo/UBERON_0001330	The pampiniform plexus is a network of many small veins found in the male spermatic cord. It is formed by the union of multiple spermatic veins from the back of the testis and tributaries from the epididymis. The veins of the plexus ascend along the cord in front of the ductus deferens. Below the subcutaneous inguinal ring they unite to form three or four veins, which pass along the inguinal canal, and, entering the abdomen through the abdominal inguinal ring, coalesce to form two veins. These again unite to form a single vein, the testicular vein, which opens on the right side into the inferior vena cava, at an acute angle, and on the left side into the left renal vein, at a right angle. The pampinoform plexus forms the chief mass of the cord. In addition to its function in venous return from the testes, the pampiniform plexus also plays a role in the temperature regulation of the testes. It acts as a heat exchanger, cooling blood in adjacent arteries. An abnormal enlargement of the pampiniform plexus is a medical condition called varicocele. [WP,unvetted].	
UBERON:0001332	prepuce of penis	biolink:AnatomicalEntity	mondo			preputium|preputium penis|foreskin|praeputium|penile prepuce|prepucium|prepuce of male|prepuce	http://purl.obolibrary.org/obo/UBERON_0001332	A retractable double-layered fold of skin and mucous membrane that covers the glans penis and protects the urinary meatus when the penis is not erect.	
UBERON:0001331	skin of penis	biolink:AnatomicalEntity	mondo			penis skin|zone of skin of penis|penile skin|penis zone of skin	http://purl.obolibrary.org/obo/UBERON_0001331	A zone of skin that is part of a penis [Automatically generated definition].	
MONDO:0004702	uterine cervix leukoplakia	biolink:Disease	mondo	NCIT:C3976|UMLS:C0269194|ICD9:622.2|SCTID:50923006|DOID:9043|ICD10:N88.0		leukoplakia of cervix|leukoplakia of the cervix|leukoplakia of the uterine cervix|cervical leukoplakia|leukoplakia of the cervix uteri|leukoplakia of uterine cervix|leukoplakia of cervix uteri|leukoplakia of cervix (uteri)|cervix leukoplakia|cervix uteri leukoplakia	http://purl.obolibrary.org/obo/MONDO_0004702	The presence of whitish patches on the mucosal surface of the cervix. Histologic examination reveals hyperkeratosis. In a minority of cases, underlying dysplasia or carcinoma in situ is present.	SNOMEDCT:50923006|DOID:9043|UMLS:C0269194|NCIT:C3976
MONDO:0004701	uterine polyp	biolink:Disease	mondo	NCIT:C3662|ICD10:N84.0|UMLS:C0156369|ICD9:621.0|SCTID:11314008|DOID:9042|COHD:200779		polyp of uterus|uterus polyp|endometrial/uterine polyp|polyp of corpus uteri|polyp of endometrium|polyp, uterus|uterine polyp|polyp of the uterus	http://purl.obolibrary.org/obo/MONDO_0004701	A benign protruding lesion arising either from the endometrial cavity (endometrial polyp) or the endocervix (endocervical polyp). It may occasionally recur following complete resection.	UMLS:C0156369|DOID:9042|SNOMEDCT:11314008|NCIT:C3662
UBERON:0001319	vaginal vein	biolink:AnatomicalEntity	mondo			vein of vagina|vagina vein	http://purl.obolibrary.org/obo/UBERON_0001319	One the veins that drains the vaginal venous plexus, into the hypogastric veins. [WP,modified].	
MONDO:0004704	obsolete peroxisomal disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004704		
MONDO:0004703	bladder carcinoma in situ	biolink:Disease	mondo	ICD10:D09.0|NCIT:C3644|ICD9:233.7|UMLS:C0154091|COHD:192855|SCTID:92546004|DOID:9053		urinary bladder flat CIS|stage 0 urinary bladder carcinoma|stage 0is carcinoma of the urinary bladder|stage 0is bladder carcinoma|stage 0is carcinoma of urinary bladder|stage 0is bladder urothelial carcinoma|stage 0is bladder urothelial carcinoma aJCC v6 and v7|urinary bladder in situ carcinoma|flat carcinoma in situ of the urinary bladder|flat CIS of the bladder|bladder flat carcinoma in situ|stage 0is carcinoma of the bladder|stage 0is bladder urothelial cancer|urinary bladder carcinoma in situ|stage 0is bladder cancer|stage 0is carcinoma of bladder|flat carcinoma in situ of the bladder|stage 0is bladder urothelial carcinoma aJCC v7|bladder flat CIS|stage 0is urinary bladder carcinoma|carcinoma in situ of urinary bladder|stage 0is bladder urothelial carcinoma aJCC v6|carcinoma in situ of the urinary bladder|cancer in situ of urinary bladder|urinary bladder flat carcinoma in situ|high grade bladder Intraurothelial neoplasia|bladder Ca in situ|flat CIS of the urinary bladder|carcinoma in situ of bladder	http://purl.obolibrary.org/obo/MONDO_0004703	Also known as carcinoma in situ of the urinary bladder or high grade intraurothelial neoplasia, this is a flat lesion of the transitional cell epithelium characterized by severe cytologic atypia. This lesion is confined to the urothelium, and is a precursor of invasive transitional cell carcinoma of the bladder. Stage 0is includes: Tis, N0, M0. Tis: Carcinoma in situ: "flat tumor". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)	SNOMEDCT:92546004|DOID:9053|UMLS:C0154091|NCIT:C3644
MONDO:0004700	parotid gland cancer	biolink:Disease	mondo	UMLS:C0747273|ICD9:142.0|ICD10:C07|MESH:D010307|SCTID:363379000|DOID:9036|NCIT:C3525		malignant tumor of the parotid gland|cancer of parotid gland|malignant tumor of parotid gland|cancer of the parotid gland|malignant tumor of the parotid|malignant tumor of parotid|malignant neoplasm of the parotid|cancer of the parotid|cancer of parotid|malignant parotid gland neoplasm|malignant parotid neoplasm|malignant neoplasm of parotid gland|parotid gland cancer|malignant neoplasm of the parotid gland|malignant parotid gland tumor|malignant neoplasm of parotid|malignant parotid tumor|parotid cancer	http://purl.obolibrary.org/obo/MONDO_0004700	A primary or metastatic malignant neoplasm involving the parotid gland. Representative examples include carcinoma, malignant mixed tumor, and non-Hodgkin lymphoma.	UMLS:C0747273|MESH:D010307|DOID:9036|SNOMEDCT:363379000|NCIT:C3525
UBERON:0001318	inferior vesical vein	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0001318		
UBERON:0003978	valve	biolink:AnatomicalEntity	mondo			anatomical valve	http://purl.obolibrary.org/obo/UBERON_0003978		
UBERON:0001317	internal iliac vein	biolink:AnatomicalEntity	mondo			hypogastric vein|v. iliaca interna|v. hypogastrica	http://purl.obolibrary.org/obo/UBERON_0001317	A vein that begins near the upper part of the greater sciatic foramen, passes upward behind and slightly medial to the hypogastric artery and, at the brim of the pelvis, joins with the external iliac to form the common iliac vein. [WP,unvetted].	
NCBITaxon:69034	Rotaliidae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_69034		
UBERON:0001323	tibial nerve	biolink:AnatomicalEntity	mondo			n. tibialis|medial popliteal nerve	http://purl.obolibrary.org/obo/UBERON_0001323	The tibial nerve is a branch of the sciatic nerve. The tibial nerve passes through the popliteal fossa to pass below the arch of soleus. In the popliteal fossa the nerve gives off branches to gastrocnemius, popliteus, soleus and plantaris muscles, an articular branch to the knee joint, and a cutaneous branch that will become the sural nerve. The sural nerve is joined by fibres from the common peroneal nerve and runs down the calf to supply the lateral side of the foot. Below the soleus muscle the nerve lies close to the tibia and supplies the tibialis posterior, the flexor digitorum longus and the flexor hallucis longus. The nerve passes into the foot running posterior to the medial malleolus. Here it is bound down by the flexor retinaculum in company with the posterior tibial artery. [WP,unvetted].	
UBERON:0001322	sciatic nerve	biolink:AnatomicalEntity	mondo			ischiatic nerve|ischiadic nerve|nervus ischiadicus|nervus sciaticus	http://purl.obolibrary.org/obo/UBERON_0001322	A large nerve that supplies nearly the whole of the skin of the leg, the muscles of the back of the thigh, and those of the leg and foot. It begins in the lower back and runs through the buttock and down the lower limb.	
UBERON:0003984	uterine tube infundibulum	biolink:AnatomicalEntity	mondo			infundibulum of uterine tube|infundibulum of fallopian tube|infundibulum tubae uterinae|infundibulum of oviduct|infundibulum	http://purl.obolibrary.org/obo/UBERON_0003984	The funnel-like expansion of the abdominal extremity of the uterine tube[MP]	
UBERON:0001325	muscle of pelvis	biolink:AnatomicalEntity	mondo			pelvis muscle organ|pelvis muscle|pelvic muscle|muscle organ of pelvis	http://purl.obolibrary.org/obo/UBERON_0001325	Muscle (organ) which is a part of the pelvis. Examples: levator ani,	
UBERON:0001324	common fibular nerve	biolink:AnatomicalEntity	mondo			lateral popliteal nerve|n. fibularis communis|extrernal peroneal nerve|n. peroneus communis|common peroneal nerve|nervus peroneus communis|nervus fibularis communis	http://purl.obolibrary.org/obo/UBERON_0001324	A nerve arising at the terminal division of the sciatic nerve at the popliteal fossa and extending to the neck of the fibula, ultimately innervating the Peroneus muscle[MP].	
UBERON:0003983	conus arteriosus	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0003983	A conical pouch formed from the upper and left angle of the right ventricle in the chordate heart, from which the pulmonary artery arises[WP]. the anteriosuperior, smooth-walled portion of the cavity of the right ventricle, beginning at the supraventricular crest and terminates in the pulmonary trunk[MP].	
UBERON:0003980	cerebellum fissure	biolink:AnatomicalEntity	mondo			sulcus of cerebellum|cerebellar sulcus|fissurae cerebelli|set of cerebellar fissures|cerebellar sulci|cerebellar fissures set|cerebellar fissures|cerebellar fissure	http://purl.obolibrary.org/obo/UBERON_0003980	One of a set of deep furrows which divide the lobules of the cerebellum. Examples: postcentral, primary and secondary furrows	
HGNC:16171	CHMP4B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16171		
PATO:0001739	radiation quality	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0001739	A quality that inheres in an bearer by virtue of how that bearer interacts with radiation.	
HP:0007663	Reduced visual acuity	biolink:PhenotypicFeature	mondo	UMLS:C0234632|SNOMEDCT_US:13164000		Decreased clarity of vision|Decreased visual acuity|Decreased central vision|Poor visual acuity	http://purl.obolibrary.org/obo/HP_0007663		
HGNC:16175	RSPO4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16175		
HGNC:28163	CCDC28B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28163		
HGNC:16187	SLC52A3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16187		
PATO:0001759	granular	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0001759	A composition quality inhering in a bearer by virtue of the bearer's containing granules.	
MONDO:0014093	retinitis pigmentosa 66	biolink:Disease	mondo	UMLS:C3715216|ICD10:H35.5|DOID:0110393|OMIM:615233		RBP3 retinitis pigmentosa|retinitis pigmentosa 66; RP66|retinitis pigmentosa type 66|retinitis pigmentosa 66|retinitis pigmentosa caused by mutation in RBP3|RP66	http://purl.obolibrary.org/obo/MONDO_0014093	Any retinitis pigmentosa in which the cause of the disease is a mutation in the RBP3 gene.	DOID:0110393|http://identifiers.org/omim/615233|UMLS:C3715216
MONDO:0014092	schizophrenia 18	biolink:Disease	mondo	UMLS:C3808913|DOID:0070093|OMIM:615232		schizophrenia 18|schizophrenia type 18|SCZD18|chromosome 7q36.3 Duplication syndrome, 362-Kb|schizophrenia 18; SCZD18|schizophrenia 18 with or without an affective disorder|schizoaffective disorder	http://purl.obolibrary.org/obo/MONDO_0014092	A schizophrenia that has material basis in a mutation of SLC1A1 on chromosome 9p24.2.	http://identifiers.org/omim/615232|UMLS:C3808913|DOID:0070093
MONDO:0014091	mitochondrial complex V (ATP synthase) deficiency nuclear type 4	biolink:Disease	mondo	DOID:0060333|ICD10:E88.8|OMIM:615228|UMLS:C3808899		ATP5F1A mitochondrial complex deficiency|mitochondrial complex V (ATP synthase) deficiency, nuclear type 4; MC5DN4|mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 4|mitochondrial complex deficiency caused by mutation in ATP5F1A|mitochondrial Complex 5 (ATP synthase) deficiency, ATP5A1 type|MC5DN4|mitochondrial complex V (ATP synthase) deficiency, nuclear type 4	http://purl.obolibrary.org/obo/MONDO_0014091	Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1A gene.	DOID:0060333|http://identifiers.org/omim/615228|UMLS:C3808899
MONDO:0014090	polydactyly, postaxial, type A6	biolink:Disease	mondo	OMIM:615226|UMLS:C3808889		polydactyly, postaxial, type A6; PAPA6|PAPA6|polydactyly, postaxial, type A6	http://purl.obolibrary.org/obo/MONDO_0014090		UMLS:C3808889|http://identifiers.org/omim/615226
MONDO:0014097	congenital short bowel syndrome	biolink:Disease	mondo	ICD10:Q43.8|SCTID:715201005|Orphanet:2301	ordo_morphological_anomaly	CSBS|congenital short bowel syndrome|congenital short bowel syndrome; CSBS	http://purl.obolibrary.org/obo/MONDO_0014097	Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.	SNOMEDCT:715201005|ORPHA:2301
MONDO:0014096	microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome	biolink:Disease	mondo	SCTID:719396000|GARD:0003498|UMLS:C0796203|Orphanet:137658|ICD10:Q87.8|OMIM:615236	ordo_malformation_syndrome|gard_rare	Woods-Crouchman-Huson syndrome|WOODS syndrome	http://purl.obolibrary.org/obo/MONDO_0014096	This syndrome is characterised by microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes).	http://identifiers.org/omim/615236|UMLS:C0796203|ORPHA:137658|SNOMEDCT:719396000
MONDO:0014095	dilated cardiomyopathy 1JJ	biolink:Disease	mondo	OMIM:615235|DOID:0110438|ICD10:I42.0|UMLS:C3808935		dilated cardiomyopathy type 1JJ|CMD1JJ|cardiomyopathy, dilated, type 1Jj|familial isolated dilated cardiomyopathy caused by mutation in LAMA4|cardiomyopathy, dilated, 1JJ; CMD1JJ|LAMA4 familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, 1JJ	http://purl.obolibrary.org/obo/MONDO_0014095	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the LAMA4 gene.	DOID:0110438|http://identifiers.org/omim/615235|UMLS:C3808935
MONDO:0014094	severe congenital hypochromic anemia with ringed sideroblasts	biolink:Disease	mondo	OMIM:615234|SCTID:725463007|ICD10:D64.0|Orphanet:300298|UMLS:C4511137|UMLS:C3808920	ordo_disease	severe congenital hypochromic sideroblastic anemia|AHMIO2|anemia, hypochromic microcytic, with iron overload 2; AHMIO2|anemia, hypochromic microcytic, with iron overload type 2|anemia, hypochromic microcytic, with iron overload 2	http://purl.obolibrary.org/obo/MONDO_0014094	STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels.	UMLS:C4511137|ORPHA:300298|http://identifiers.org/omim/615234|UMLS:C3808920|SNOMEDCT:725463007
MONDO:0014099	nephrotic syndrome, type 8	biolink:Disease	mondo	DOID:0080389|OMIM:615244|UMLS:C3808953		nephrotic syndrome caused by mutation in ARHGDIA|nephrotic syndrome, type 8|ARHGDIA nephrotic syndrome|nephrotic syndrome, type 8; NPHS8|NPHS8	http://purl.obolibrary.org/obo/MONDO_0014099	Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene.	DOID:0080389|http://identifiers.org/omim/615244|UMLS:C3808953
MONDO:0014098	CIDEC-related familial partial lipodystrophy	biolink:Disease	mondo	DOID:0070203|ICD10:E88.1|UMLS:C3808940|GARD:0013125|Orphanet:435651|OMIM:615238	ordo_disease	lipodystrophy, familial partial, type 5; FPLD5|CIDEC-related FPLD|lipodystrophy, familial partial, type 5|FPLD5|lipodystrophy, familial partial, associated with Cidec mutations	http://purl.obolibrary.org/obo/MONDO_0014098		ORPHA:435651|UMLS:C3808940|http://identifiers.org/omim/615238|DOID:0070203
UBERON:0003928	digestive system duct	biolink:AnatomicalEntity	mondo			duct of digestive system|duct of gastrointestinal system|gastrointestinal system duct	http://purl.obolibrary.org/obo/UBERON_0003928	A duct that is part of a digestive system [Automatically generated definition].	
HGNC:18791	ZFP57	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18791		
NCBITaxon:694017	Torovirinae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_694017		
UBERON:0003929	digestive tract epithelium	biolink:AnatomicalEntity	mondo			epithelium of digestive tract|epithelial tissue of digestive tract|epithelium of gut|epithelial tissue of gut|alimentary tract epithelium|digestive tract epithelial tissue|gut epithelium|gut epithelial tissue|gastrodermis	http://purl.obolibrary.org/obo/UBERON_0003929	An epithelium that lines the lumen of the digestive tract.	
NCBITaxon:694014	Avian coronavirus	organism taxon	mondo	GC_ID:1		ACoV	http://purl.obolibrary.org/obo/NCBITaxon_694014		
UBERON:0003924	ventral pancreatic bud	biolink:AnatomicalEntity	mondo			ventral pancreas anlage|pancreas primordium ventral bud|pancreas ventral primordium duct bud|anterior pancreatic anlage|ventral pancreatic anlage|anterior pancreatic bud	http://purl.obolibrary.org/obo/UBERON_0003924	pancreatic bud that gives rise to the major pancreatic duct.	
NCBITaxon:694013	Gammacoronavirus	organism taxon	mondo	GC_ID:1		Coronavirus group 3|Coronavirus|Group 3 species	http://purl.obolibrary.org/obo/NCBITaxon_694013		
UBERON:0003922	pancreatic epithelial bud	biolink:AnatomicalEntity	mondo			pancreas epithelium|pancreatic bud|pancreatic anlage|pancreatic buds	http://purl.obolibrary.org/obo/UBERON_0003922	The embryonic pancreas develops from two separate anlagen in the foregut epithelium, one dorsal and two ventral pancreatic buds[PMID].	
UBERON:0003923	dorsal pancreatic bud	biolink:AnatomicalEntity	mondo			dorsal pancreas anlage|primary pancreatic bud|posterior pancreatic anlage|posterior pancreatic bud|pancreas primordium dorsal bud|dorsal pancreatic anlage|pancreas dorsal primordium duct bud	http://purl.obolibrary.org/obo/UBERON_0003923	pancreatic bud that gives rise to the accessory pancreatic duct.	
CHEBI:46195	paracetamol	biolink:ChemicalSubstance	mondo			Tylenol|Panadol|4-(Acetylamino)phenol|4-acetamidophenol|N-(4-hydroxyphenyl)acetamide|p-Acetylaminophenol|p-hydroxyphenolacetamide|paracetamol|p-acetamidophenol|Acenol|acetaminophene|p-hydroxyacetanilide|N-acetyl-p-aminophenol|paracetamolum|4'-hydroxyacetanilide|Acetaminofen|acetaminofen|Paracetamol|Acetaminophen|APAP|p-acetaminophenol	http://purl.obolibrary.org/obo/CHEBI_46195	A member of the class of phenols that is 4-aminophenol in which one of the hydrogens attached to the amino group has been replaced by an acetyl group.	
NCBITaxon:11709	Human immunodeficiency virus 2	organism taxon	mondo	GC_ID:1		HIV-2|HIV type 2|Human immunodeficiency virus type 2|AIDS virus|HIV2|human immunodeficiency virus type 2, HIV-2|human immunodeficiency virus type 2 HIV-2|LAV-2|Human immunodeficiency virus-2|HIV	http://purl.obolibrary.org/obo/NCBITaxon_11709		
UBERON:0003931	diencephalic white matter	biolink:AnatomicalEntity	mondo			white matter of diencephalon|diencephalic tracts and commissures|diencephalic tract/commissure|predominantly white regional part of diencephalon	http://purl.obolibrary.org/obo/UBERON_0003931	White matter that is part of a diencephalon [Automatically generated definition].	
UBERON:0003932	cartilage element of chondrocranium	biolink:AnatomicalEntity	mondo			neurocranium cartilage|chondrocranium cartilage|cartilage of chondrocranium|cartilaginous element of chondrocranium	http://purl.obolibrary.org/obo/UBERON_0003932	A cartilage element of chondrocranium. Example: neurocranial trabecula.	
HGNC:16133	TBC1D20	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16133		
UBERON:0003918	kidney mesenchyme	biolink:AnatomicalEntity	mondo			mesenchyme of kidney	http://purl.obolibrary.org/obo/UBERON_0003918	Kidney mesenchyme is the tissue made up of loosely connected mesenchymal cells in the kidney[GO].	
UBERON:0003915	endothelial tube	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0003915	Any endothelium that has the quality of being cylindrical [Automatically generated definition].	
UBERON:0003916	fat pad	biolink:AnatomicalEntity	mondo			fat body	http://purl.obolibrary.org/obo/UBERON_0003916	A mass of closely packed fat cells (adipose tissue) surrounded by fibrous tissue septa[TMD].	
UBERON:0003913	tooth-like structure	biolink:AnatomicalEntity	mondo			tooth-like organ	http://purl.obolibrary.org/obo/UBERON_0003913	hard bony, calcareous, or chitinous organ found in the mouth or pharynx of an animal and used in procuring or masticating food.	
UBERON:0003914	epithelial tube	biolink:AnatomicalEntity	mondo			epithelial or endothelial tube	http://purl.obolibrary.org/obo/UBERON_0003914	Epithelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system.	
UBERON:0003911	choroid plexus epithelium	biolink:AnatomicalEntity	mondo			choroid plexus epithelial tissue|epithelial tissue of choroid plexus|epithelium of choroid plexus|epithelial tissue of chorioid plexus of cerebral hemisphere	http://purl.obolibrary.org/obo/UBERON_0003911	The epithelial component of the choroid plexus. Consists of cuboidal epithelial cells surrounding a core of capillaries and loose connective tissue.	
UBERON:0003920	venous blood vessel	biolink:AnatomicalEntity	mondo			segment of venous tree organ|venous tree organ segment	http://purl.obolibrary.org/obo/UBERON_0003920	A blood vessel that carries blood from the capillaries toward the heart	
UBERON:0003921	pancreas primordium	biolink:AnatomicalEntity	mondo			pancreatic anlage|pancreatic endoderm|pancreatic primordium|primordial pancreas	http://purl.obolibrary.org/obo/UBERON_0003921	embryonic structure that develops into pancreatic bud.	
UBERON:0003902	retinal neural layer	biolink:AnatomicalEntity	mondo			neural retina|stratum nervosum (retina)|neuroretina|stratum nervosum retinae|neural retinal epithelium|neural layer of retina	http://purl.obolibrary.org/obo/UBERON_0003902	The part of the retina that contains neurons and photoreceptor cells[GO].	
UBERON:0003909	sinusoid	biolink:AnatomicalEntity	mondo			sinusoidal blood vessel endothelium|sinusoidal blood vessel|sinusoidal endothelium|sinusoidal capillary|endothelium of irregular blood filled space	http://purl.obolibrary.org/obo/UBERON_0003909	small blood vessel similar to a capillary but with a fenestrated endothelium. Sinusoids are found in the liver, lymphoid tissue, endocrine organs, and hematopoietic organs such as the bone marrow and the spleen. Sinusoids found within terminal villi of the placenta are not comparable to these; they possess a continuous endothelium and complete basal lamina[WP].	
UBERON:0003910	splenic sinusoid	biolink:AnatomicalEntity	mondo			sinusoid of red pulp of spleen|sinusoidal blood vessel of spleen	http://purl.obolibrary.org/obo/UBERON_0003910	wide vessels in the spleen that drain into trabecular veins[WP].	
NCBITaxon:694002	Betacoronavirus	organism taxon	mondo	GC_ID:1		Coronavirus group 2|Coronavirus|Group 2 species	http://purl.obolibrary.org/obo/NCBITaxon_694002		
NCBITaxon:694009	Severe acute respiratory syndrome-related coronavirus	organism taxon	mondo	GC_ID:1		SARS virus|SARSr-CoV|SARS-like coronavirus|SARS|Human coronavirus (strain SARS)|HCoV-SARS|SARS coronavirus|Severe acute respiratory syndrome coronavirus|SARS-related coronavirus|SARSrCoV	http://purl.obolibrary.org/obo/NCBITaxon_694009		
HGNC:18782	CCDC6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18782		
NCBITaxon:11741		organism taxon	mondo				http://purl.obolibrary.org/obo/NCBITaxon_11741		
MONDO:0002178	placenta cancer	biolink:Disease	mondo	UMLS:C0153572|DOID:2021|ICD10:C58|NCIT:C3555|SCTID:126920004|ICD9:181|ICD9:239.5		malignant neoplasm of placenta|malignant placenta neoplasm|malignant placenta tumor|malignant neoplasm of the placenta|placental tumors|deciduoma, malignant|malignant placental neoplasm|malignant placental tumor|cancer of placenta|neoplasm of placenta|primary malignant neoplasm of placenta|malignant tumor of placenta|malignant tumor of the placenta|placenta cancer|placental cancer	http://purl.obolibrary.org/obo/MONDO_0002178	A malignant neoplasm involving the placenta.	DOID:2021|SNOMEDCT:126920004|UMLS:C0153572|NCIT:C3555
MONDO:0002179	obsolete placental choriocarcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002179		
GO:1901569	fatty acid derivative catabolic process	biolink:OntologyClass	mondo			fatty acid derivative degradation|fatty acid derivative breakdown|fatty acid derivative catabolism	http://purl.obolibrary.org/obo/GO_1901569	The chemical reactions and pathways resulting in the breakdown of fatty acid derivative.	
MONDO:0002174	preretinal fibrosis	biolink:Disease	mondo	ICD9:362.56|ICD9:362.89|MESH:D019773|DOID:2006|SCTID:367649002		macular retinal puckering|cellophane maculopathy|macular puckering of retina	http://purl.obolibrary.org/obo/MONDO_0002174	A membrane on the vitreal surface of the retina resulting from the proliferation of one or more of three retinal elements: (1) fibrous astrocytes; (2) fibrocytes; and (3) retinal pigment epithelial cells. Localized epiretinal membranes may occur at the posterior pole of the eye without clinical signs or may cause marked loss of vision as a result of covering, distorting, or detaching the fovea centralis. Epiretinal membranes may cause vascular leakage and secondary retinal edema. In younger individuals some membranes appear to be developmental in origin and occur in otherwise normal eyes. The majority occur in association with retinal holes, ocular concussions, retinal inflammation, or after ocular surgery. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p291)	MESH:D019773|SNOMEDCT:367649002|DOID:2006
MONDO:0002175	degeneration of macula and posterior pole	biolink:Disease	mondo	UMLS:C0339436|SCTID:267611002|ICD9:362.5|DOID:2007|ICD10:H35.3		degeneration of macula or posterior pole|degeneration of macula and posterior pole of retina	http://purl.obolibrary.org/obo/MONDO_0002175		SNOMEDCT:267611002|UMLS:C0339436|DOID:2007
GO:1901568	fatty acid derivative metabolic process	biolink:OntologyClass	mondo			fatty acid derivative metabolism	http://purl.obolibrary.org/obo/GO_1901568	The chemical reactions and pathways involving fatty acid derivative.	
GO:1901565	organonitrogen compound catabolic process	biolink:OntologyClass	mondo			organonitrogen compound catabolism|organonitrogen compound degradation|organonitrogen compound breakdown	http://purl.obolibrary.org/obo/GO_1901565	The chemical reactions and pathways resulting in the breakdown of organonitrogen compound.	
MONDO:0002176	connective tissue cancer	biolink:Disease	mondo	DOID:201		tumour of connective tissue|malignant connective tissue neoplasm|cancer of connective tissue|malignant neoplasm of connective tissue|connective tissue neoplasm|neoplasm of connective tissues|connective tissue cancer	http://purl.obolibrary.org/obo/MONDO_0002176	A malignant neoplasm involving the connective tissue	DOID:201
MONDO:0002177	hyperinsulinism (disease)	biolink:Disease	mondo	SCTID:83469008|ICD10:E16.1|UMLS:C0020459|DOID:2018|ICD9:251.1|MESH:D006946|HP:0000842		hyperinsulinemia|hyperinsulinism	http://purl.obolibrary.org/obo/MONDO_0002177	Abnormally high levels of insulin in the blood.	NCIT:C113104|MESH:D006946|UMLS:C0020459|SNOMEDCT:83469008|DOID:2018
NCBITaxon:2315720	Trochida	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2315720		
GO:1901566	organonitrogen compound biosynthetic process	biolink:OntologyClass	mondo			organonitrogen compound anabolism|organonitrogen compound biosynthesis|organonitrogen compound synthesis|organonitrogen compound formation	http://purl.obolibrary.org/obo/GO_1901566	The chemical reactions and pathways resulting in the formation of organonitrogen compound.	
MONDO:0002170	chronic eustachian salpingitis	biolink:Disease	mondo	ICD10:H68.029|DOID:1999|ICD9:381.52|SCTID:194269002|UMLS:C0155430|ICD10:H68.02		chronic otosalpingitis|chronic eustachian tube salpingitis|otosalpingitis, chronic	http://purl.obolibrary.org/obo/MONDO_0002170	Chronic form of otosalpingitis.	SNOMEDCT:194269002|DOID:1999|UMLS:C0155430
MONDO:0002171	giant cell tumor	biolink:Disease	mondo	DOID:200|UMLS:C0017525|SCTID:443790001|NCIT:C3055|MESH:D005870		giant cell tumor|tumor of the giant cell|giant cell tumor NOS (morphologic abnormality)|giant cell tumor (qualifier value)|giant cell tumors|giant cell tumor (morphologic abnormality)|giant cell tumors (morphologic abnormality)|giant cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0002171	A benign, intermediate, or malignant tumor that arises from the bone or soft tissue. It is characterized by the presence of multinucleated osteoclast-like giant cells.	MESH:D005870|UMLS:C0017525|NCIT:C3055|SNOMEDCT:443790001|DOID:200
GO:1901564	organonitrogen compound metabolic process	biolink:OntologyClass	mondo			organonitrogen compound metabolism	http://purl.obolibrary.org/obo/GO_1901564	The chemical reactions and pathways involving organonitrogen compound.	
MONDO:0002172	otosalpingitis	biolink:Disease	mondo	ICD9:381.5|ICD10:H68.0|SCTID:270491006|ICD10:H68.00|ICD10:H68.009|ICD9:381.50|UMLS:C0155428|DOID:2000		inflammation of pharyngotympanic tube|Eustachian tube salpingitis|Eustachian salpingitis|pharyngotympanic tube inflammation	http://purl.obolibrary.org/obo/MONDO_0002172	An inflammatory disease involving a pathogenic inflammatory response in the pharyngotympanic tube.	SNOMEDCT:270491006|DOID:2000|UMLS:C0155428
MONDO:0002173	neuroma	biolink:Disease	mondo	ICDO:9570/0|SCTID:443892003|UMLS:C0027858|NCIT:C3275|ICD9:215.9|DOID:2001|MESH:D009463			http://purl.obolibrary.org/obo/MONDO_0002173	A tumor that grows from a nerve or is composed of nerve cells and nerve fibers.	NCIT:C3275|SNOMEDCT:443892003|UMLS:C0027858|MESH:D009463|DOID:2001
GO:0060474	positive regulation of flagellated sperm motility involved in capacitation	biolink:OntologyClass	mondo			positive regulation of sperm motility involved in capacitation	http://purl.obolibrary.org/obo/GO_0060474	The process in which the controlled movement of a flagellated sperm cell is initiated as part of the process required for flagellated sperm to reach fertilization competence.	
MONDO:0014169	dyschromatosis universalis hereditaria 3	biolink:Disease	mondo	UMLS:C3809394|OMIM:615402		dyschromatosis universalis hereditaria caused by mutation in ABCB6|dyschromatosis universalis hereditaria 3; DUH3|dyschromatosis universalis hereditaria 3|dyschromatosis universalis hereditaria type 3|DUH3|ABCB6 dyschromatosis universalis hereditaria	http://purl.obolibrary.org/obo/MONDO_0014169	Any dyschromatosis universalis hereditaria in which the cause of the disease is a mutation in the ABCB6 gene.	UMLS:C3809394|http://identifiers.org/omim/615402
MONDO:0014168	severe combined immunodeficiency due to CORO1A deficiency	biolink:Disease	mondo	UMLS:C3809383|ICD10:D81.2|Orphanet:228003|DOID:0060019|OMIM:615401	ordo_disease	IMD8|severe combined immunodeficiency due to coronin-1A deficiency|SCID due to coronin-1A deficiency|immunodeficiency 8; IMD8|coronin-1A deficiency|immunodeficiency 8|SCID due to CORO1A deficiency|immunodeficiency type 8	http://purl.obolibrary.org/obo/MONDO_0014168		DOID:0060019|UMLS:C3809383|ORPHA:228003|http://identifiers.org/omim/615401
MONDO:0041775	intraoperative floppy iris syndrome	biolink:Disease	mondo	UMLS:C1688637|SCTID:418801006		intraoperative floppy iris syndrome	http://purl.obolibrary.org/obo/MONDO_0041775		SNOMEDCT:418801006|UMLS:C1688637
MONDO:0014163	left ventricular noncompaction 10	biolink:Disease	mondo	OMIM:615396|UMLS:C3715165		MYBPC3 left ventricular noncompaction|left ventricular noncompaction caused by mutation in MYBPC3|left ventricular noncompaction 10; LVNC10|left ventricular noncompaction 10|left ventricular noncompaction type 10|cardiomyopathy, dilated, 1Mm|LVNC10	http://purl.obolibrary.org/obo/MONDO_0014163	Any left ventricular noncompaction in which the cause of the disease is a mutation in the MYBPC3 gene.	http://identifiers.org/omim/615396|UMLS:C3715165
MONDO:0014162	infantile hypertrophic cardiomyopathy due to MRPL44 deficiency	biolink:Disease	mondo	GARD:0012892|Orphanet:352563|ICD10:I42.2|DOID:0111469|OMIM:615395|UMLS:C3809339	ordo_disease	combined oxidative phosphorylation defect type 16|combined oxidative phosphorylation deficiency 16|MRPL44 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency 16; COXPD16|combined oxidative phosphorylation deficiency caused by mutation in MRPL44|combined oxidative phosphorylation deficiency type 16|COXPD16	http://purl.obolibrary.org/obo/MONDO_0014162	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.	http://identifiers.org/omim/615395|ORPHA:352563|DOID:0111469|UMLS:C3809339
MONDO:0014161	VUR7	biolink:Disease	mondo	OMIM:615390|UMLS:C3809337		VUR7|vesicoureteral reflux 7|vesicoureteral reflux 7; VUR7	http://purl.obolibrary.org/obo/MONDO_0014161		http://identifiers.org/omim/615390|UMLS:C3809337
MONDO:0014160	TCR-alpha-beta-positive T-cell deficiency	biolink:Disease	mondo	Orphanet:397959|ICD10:D84.8|UMLS:C3809332|OMIM:615387	ordo_disease	T-cell receptor-ALPHA/BETA deficiency|TCR-alpha-beta+ T-cell deficiency|TCR-Alpha/Beta deficiency|immunodeficiency 7	http://purl.obolibrary.org/obo/MONDO_0014160		ORPHA:397959|http://identifiers.org/omim/615387|UMLS:C3809332
MONDO:0014167	epilepsy, familial adult myoclonic, 5	biolink:Disease	mondo	OMIM:615400|DOID:0111691|UMLS:C3809374		epilepsy, familial adult myoclonic, 5|epilepsy, familial ADULT myoclonic, 5; FAME5|epilepsy, familial adult myoclonic, type 5|epilepsy, familial adult myoclonic caused by mutation in CNTN2|FAME5|CNTN2 epilepsy, familial adult myoclonic|cortical myoclonic tremor with epilepsy, familial, 5	http://purl.obolibrary.org/obo/MONDO_0014167	Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the CNTN2 gene.	UMLS:C3809374|http://identifiers.org/omim/615400|DOID:0111691
MONDO:0014166	paroxysmal nocturnal hemoglobinuria 2	biolink:Disease	mondo	OMIM:615399|UMLS:C3809369		paroxysmal nocturnal hemoglobinuria caused by mutation in PIGT|PNH2|PIGT paroxysmal nocturnal hemoglobinuria|paroxysmal nocturnal hemoglobinuria 2|paroxysmal nocturnal hemoglobinuria 2; PNH2|paroxysmal nocturnal hemoglobinuria type 2	http://purl.obolibrary.org/obo/MONDO_0014166	Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene.	http://identifiers.org/omim/615399|UMLS:C3809369
HGNC:18873	IFIH1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18873		
MONDO:0014165	multiple congenital anomalies-hypotonia-seizures syndrome 3	biolink:Disease	mondo	DOID:0080140|ICD10:Q87.8|UMLS:C3809356|Orphanet:369837|OMIM:615398	ordo_malformation_syndrome	multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGT|multiple congenital anomalies-hypotonia-seizures syndrome 3; MCAHS3|congenital disorder of glycosylation due to PIGT deficiency|multiple congenital anomalies-hypotonia-seizures syndrome 3|PIGT-CDG|multiple congenital anomalies-hypotonia-seizures syndrome type 3|glycosylphosphatidylinositol biosynthesis defect 7|PIGT multiple congenital anomalies/dysmorphic syndrome-intellectual disability|intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome|MCAHS type 3|MCAHS3	http://purl.obolibrary.org/obo/MONDO_0014165	Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome is a rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.	http://identifiers.org/omim/615398|DOID:0080140|ORPHA:369837|UMLS:C3809356
MONDO:0014164	Meckel syndrome, type 11	biolink:Disease	mondo	OMIM:615397|UMLS:C3809352		Meckel syndrome, type 11; MKS11|MKS11|Meckel syndrome, type 11|TMEM231 Meckel syndrome|Meckel syndrome caused by mutation in TMEM231	http://purl.obolibrary.org/obo/MONDO_0014164	Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM231 gene.	http://identifiers.org/omim/615397|UMLS:C3809352
HGNC:18871	MMAA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18871		
MONDO:0002189	nodular hidradenoma	biolink:Disease	mondo	SCTID:253020008|DOID:2061|NCIT:C7568|ICDO:8402/0		eccrine nodular hidradenoma|solid and cystic hidradenoma|nodular hidradenoma	http://purl.obolibrary.org/obo/MONDO_0002189	A benign epithelial neoplasm arising from the sweat glands. It presents as a nodular lesion usually in the scalp, trunk, and proximal extremities. It is characterized by a nodular growth pattern. Complete excision is curative.	SNOMEDCT:253020008|DOID:2061|NCIT:C7568
HGNC:28209	CEP19	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28209		
MONDO:0002185	hyperostosis	biolink:Disease	mondo	SCTID:203514008|UMLS:C0020492|MESH:D015576|ICD10:M89.3|ICD9:733.99|DOID:205|ICD10:M89.30|NCIT:C34712		hypertrophy of bone|bone hypertrophy|hypertrophy of bone (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0002185	Excessive thickening of bone.	UMLS:C0020492|SNOMEDCT:203514008|MESH:D015576|DOID:205|NCIT:C34712
MONDO:0002186	acute maxillary sinusitis	biolink:Disease	mondo	UMLS:C0155804|ICD10:J01.00|DOID:2050|ICD10:J01.0|COHD:141323|ICD9:461.0|SCTID:68272006		maxillary sinusitis, acute|acute antritis	http://purl.obolibrary.org/obo/MONDO_0002186	Acute form of maxillary sinusitis.	UMLS:C0155804|SNOMEDCT:68272006|DOID:2050
MONDO:0002187	vulvar disease	biolink:Disease	mondo	NCIT:C27631|UMLS:C0042994|SCTID:5089007|DOID:2059|MESH:D014845		vulval disorder|vulvar disease|vulvar disorder|disorder of vulva	http://purl.obolibrary.org/obo/MONDO_0002187	A non-neoplastic or neoplastic disorder that affects the vulva. Representative examples include infection, Bartholin gland adenoma, and vulvar carcinoma.	NCIT:C27631|SNOMEDCT:5089007|MESH:D014845|DOID:2059|UMLS:C0042994
GO:1901576	organic substance biosynthetic process	biolink:OntologyClass	mondo			organic molecular entity formation|organic molecular entity biosynthetic process|organic molecular entity biosynthesis|organic substance anabolism|organic substance biosynthesis|organic molecular entity anabolism|organic substance synthesis|organic molecular entity synthesis|organic substance formation	http://purl.obolibrary.org/obo/GO_1901576	The chemical reactions and pathways resulting in the formation of an organic substance, any molecular entity containing carbon.	
MONDO:0002188	vulvar nodular hidradenoma	biolink:Disease	mondo	DOID:2060|NCIT:C40312|UMLS:C1520091		nodular hidradenoma of mammalian vulva|mammalian vulva nodular hidradenoma|vulvar nodular hidradenoma	http://purl.obolibrary.org/obo/MONDO_0002188	A benign neoplasm that arises from sweat glands in the vulva and is characterized by the presence of lobules composed of epithelial cells with clear cytoplasm.	UMLS:C1520091|NCIT:C40312|DOID:2060
MONDO:0002181	exostosis	biolink:Disease	mondo	COHD:72715|NCIT:C3029|UMLS:C1442903|ICD10:M27.8|ICD9:726.91|SCTID:235231000119100|DOID:203|UMLS:C1956089|SCTID:416189003		orbital exostosis|bone spur|bone osteophyte|exostosis|swimmer's exostosis|bony outgrowth|osteophyte	http://purl.obolibrary.org/obo/MONDO_0002181	Non-neoplastic overgrowth of bone.	NCIT:C3029|UMLS:C1442903|SNOMEDCT:235231000119100|DOID:203|UMLS:C1956089|SNOMEDCT:416189003
MONDO:0002182	communication disorder	biolink:Disease	mondo	COHD:4150614|ICD10:F80.9|ICD9:307.9|SCTID:278919001|MESH:D003147|NCIT:C2958|DOID:2033	gard_rare	communicative disorders	http://purl.obolibrary.org/obo/MONDO_0002182	A disorder characterized by an individual's inability to comprehend or share ideas or feelings because of an impairment in language, speech, or hearing.	MESH:D003147|NCIT:C2958|SNOMEDCT:278919001|DOID:2033
GO:1901575	organic substance catabolic process	biolink:OntologyClass	mondo			organic molecular entity breakdown|organic molecular entity catabolism|organic molecular entity catabolic process|organic substance catabolism|organic substance degradation|organic molecular entity degradation|organic substance breakdown	http://purl.obolibrary.org/obo/GO_1901575	The chemical reactions and pathways resulting in the breakdown of an organic substance, any molecular entity containing carbon.	
MONDO:0002183	enthesopathy	biolink:Disease	mondo	ICD9:726.90|ICD10:M77.9|COHD:73008|SCTID:23680005|UMLS:C0242490|DOID:204|ICD9:726.9		disease or disorder of enthesis|disorder of enthesis|disorder of enthesis|disease of enthesis|enthesis disease|enthesis disease or disorder	http://purl.obolibrary.org/obo/MONDO_0002183	A disorder involving the attachment of a tendon or ligament to a bone	SNOMEDCT:23680005|UMLS:C0242490|DOID:204
MONDO:0002184	drug-induced hepatitis	biolink:Disease	mondo	SCTID:235889003|EFO:1000905|DOID:2044		drug-induced chronic hepatitis	http://purl.obolibrary.org/obo/MONDO_0002184	Liver disease lasting six months or more, caused by an adverse drug effect. The adverse effect may result from a direct toxic effect of a drug or metabolite, or an idiosyncratic response to a drug or metabolite.	SNOMEDCT:235889003|DOID:2044
MONDO:0014159	autosomal recessive spinocerebellar ataxia 14	biolink:Disease	mondo	UMLS:C3809327|SCTID:763351003|ICD10:G11.1|Orphanet:352403|OMIM:615386|DOID:0080058	ordo_disease	autosomal recessive cerebellar ataxia caused by mutation in SPTBN2|autosomal recessive cerebellar ataxia-cognitive defect syndrome|SCAR14|cerebellar ataxia, autosomal recessive, spectrin-associated, 1|spinocerebellar ataxia, autosomal recessive 14|spinocerebellar ataxia, autosomal recessive 14; SCAR14|SPARCA1|infantile-onset spinocerebellar ataxia-psychomotor delay syndrome|autosomal recessive spinocerebellar ataxia type 14|spectrin-associated autosomal recessive cerebellar ataxia type 1|SPTBN2 autosomal recessive cerebellar ataxia|spectrin-associated autosomal recessive cerebellar ataxia|SPARCA|spinocerebellar ataxia, autosomal recessive type 14|Ataxie spinocérébelleuse à début infantile avec retard psychomoteur	http://purl.obolibrary.org/obo/MONDO_0014159	Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).	SNOMEDCT:763351003|UMLS:C3809327|http://identifiers.org/omim/615386|ORPHA:352403|DOID:0080058
MONDO:0014158	nephronophthisis 16	biolink:Disease	mondo	OMIM:615382|SCTID:444558002|ICD10:Q61.5|DOID:0111124|UMLS:C3809320	ordo_clinical_subtype	nephronophthisis 16; NPHP16|infantile nephronophthisis|nephronophthisis (disease) caused by mutation in ANKS6|nephronophthisis 16|NPHP16|nephronophthisis type 16|autosomal recessive infantile nephronophthisis|ANKS6 nephronophthisis (disease)|autosomal recessive infantile NPHP	http://purl.obolibrary.org/obo/MONDO_0014158	Any nephronophthisis in which the cause of the disease is a mutation in the ANKS6 gene.	UMLS:C3809320|http://identifiers.org/omim/615382|SNOMEDCT:444558002|DOID:0111124
MONDO:0014157	mandibular hypoplasia-deafness-progeroid syndrome	biolink:Disease	mondo	Orphanet:363649|ICD10:E34.8|OMIM:615381|GARD:0010989|UMLS:C3715192	ordo_disease	MDPL|mandibular hypoplasia-hearing loss-progeroid syndrome|MDP syndrome|mandibular hypoplasia, deafness, progeroid features|mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome|mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome; MDPL	http://purl.obolibrary.org/obo/MONDO_0014157		http://identifiers.org/omim/615381|UMLS:C3715192|ORPHA:363649
MONDO:0002180	obsolete gestational choriocarcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002180		
GO:0060467	negative regulation of fertilization	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060467	Any process that decreases the rate, frequency or extent of fertilization. Fertilization is the union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy).	
MONDO:0014152	left ventricular noncompaction 8	biolink:Disease	mondo	OMIM:615373|UMLS:C3809288		LVNC8|left ventricular noncompaction 8; LVNC8|familial isolated dilated cardiomyopathy caused by mutation in PRDM16|left ventricular noncompaction type 8|PRDM16 familial isolated dilated cardiomyopathy|left ventricular noncompaction 8|cardiomyopathy, dilated, 1Ll	http://purl.obolibrary.org/obo/MONDO_0014152	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PRDM16 gene.	http://identifiers.org/omim/615373|UMLS:C3809288
MONDO:0014151	pulmonary hypertension, neonatal, susceptibility to	biolink:Disease	mondo	OMIM:615371	predisposition	pulmonary hypertension, neonatal, susceptibility to|pulmonary hypertension, neonatal, susceptibility to; PHN|PHN|susceptibility to neonatal pulmonary hypertension	http://purl.obolibrary.org/obo/MONDO_0014151		http://identifiers.org/omim/615371
MONDO:0014150	childhood onset epileptic encephalopathy	biolink:Disease	mondo	GARD:0013197|OMIM:615369|DOID:0060475|UMLS:C3809278		CHD2 myoclonic encephalopathy|CHCHD10-related disorders|EEOC|epileptic encephalopathy, childhood-onset|epileptic encephalopathy, childhood-onset; EEOC|childhood-onset epileptic encephalopathy	http://purl.obolibrary.org/obo/MONDO_0014150	An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability.	DOID:0060475|http://identifiers.org/omim/615369|UMLS:C3809278
MONDO:0014156	atrial fibrillation, familial, 14	biolink:Disease	mondo	OMIM:615378|UMLS:C3809312		atrial fibrillation, familial, 14|atrial fibrillation, familial, type 14|SCN2B familial atrial fibrillation|atrial fibrillation, familial, 14; ATFB14|ATFB14|familial atrial fibrillation caused by mutation in SCN2B	http://purl.obolibrary.org/obo/MONDO_0014156	Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN2B gene.	UMLS:C3809312|http://identifiers.org/omim/615378
MONDO:0014155	atrial fibrillation, familial, 13	biolink:Disease	mondo	OMIM:615377|UMLS:C3809311		atrial fibrillation, familial, type 13|SCN1B familial atrial fibrillation|atrial fibrillation, familial, 13; ATFB13|ATFB13|familial atrial fibrillation caused by mutation in SCN1B|atrial fibrillation, familial, 13	http://purl.obolibrary.org/obo/MONDO_0014155	Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN1B gene.	UMLS:C3809311|http://identifiers.org/omim/615377
HGNC:18884	TDP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18884		
MONDO:0014154	Charcot-Marie-Tooth disease recessive intermediate c	biolink:Disease	mondo	ICD10:G60.0|UMLS:C3809309|Orphanet:369867|OMIM:615376|DOID:0110198	ordo_disease	CMTRIC|RI-CMT type C|Charcot-Marie-Tooth disease, recessive intermediate C|Charcot-Marie-Tooth disease recessive intermediate type C|Charcot-Marie-Tooth neuropathy, recessive Intermediate C|Charcot-Marie-Tooth disease, recessive intermediate C; CMTRIC|PLEKHG5 Charcot-Marie-Tooth disease|RI-CMTC|autosomal recessive intermediate Charcot-Marie-Tooth disease type C|Charcot-Marie-Tooth disease, recessive Intermediate type C|Charcot-Marie-Tooth disease caused by mutation in PLEKHG5	http://purl.obolibrary.org/obo/MONDO_0014154	Autosomal recessive intermediate Charcot-Marie-Tooth disease type C is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy.	UMLS:C3809309|ORPHA:369867|http://identifiers.org/omim/615376|DOID:0110198
MONDO:0014153	cone-rod dystrophy 18	biolink:Disease	mondo	DOID:0111024|OMIM:615374|UMLS:C3809299		CORD18|cone-rod dystrophy caused by mutation in RAB28|cone-rod dystrophy 18|cone-rod dystrophy 18; CORD18|cone-rod dystrophy type 18|RAB28 cone-rod dystrophy	http://purl.obolibrary.org/obo/MONDO_0014153	Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAB28 gene.	UMLS:C3809299|http://identifiers.org/omim/615374|DOID:0111024
MONDO:0002156	fallopian tube disease	biolink:Disease	mondo	UMLS:C0015556|NCIT:C26771|DOID:1962|SCTID:128134005|MESH:D005184		disease of fallopian tube|disease or disorder of fallopian tube|disorder of fallopian tube|fallopian tube disease|fallopian tube disorder|fallopian tube disease or disorder|disorder of fallopian tube	http://purl.obolibrary.org/obo/MONDO_0002156	A disease involving the fallopian tube.	SNOMEDCT:128134005|MESH:D005184|NCIT:C26771|DOID:1962|UMLS:C0015556
MONDO:0002157	obsolete fallopian tube carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002157		
MONDO:0002158	fallopian tube cancer	biolink:Disease	mondo	ICD9:183.2|GARD:0009162|MedDRA:10025915|UMLS:C0153579|SCTID:363444001|UMLS:CN200469|Orphanet:180242|DOID:1964|ICD10:C57.0|NCIT:C7480	ordo_disease	tumor of the fallopian tube|malignant neoplasm of fallopian tube|malignant neoplasm of the fallopian tube|malignant fallopian tube tumor|malignant neoplasm of uterine tube|cancer of fallopian tube|tubal cancer|fallopian tube malignant tumor|malignant tumour of fallopian tube|neoplasm, fallopian tube, malignant|fallopian tube cancer|cancer of fallopian tubes|fallopian tube neoplasm|tumor, fallopian tube, malignant|malignant tumor of fallopian tube|malignant tumor of the fallopian tube|neoplasm of fallopian tube|malignant tumor of fallopian tubes|malignant tubal tumor|malignant fallopian tube neoplasm|fallopian tube malignant neoplasm	http://purl.obolibrary.org/obo/MONDO_0002158	A primary or metastatic malignant neoplasm that affects the fallopian tube. Representative examples include carcinoma, carcinosarcoma, and leiomyosarcoma.	ORPHA:180242|UMLS:CN200469|NCIT:C7480|SNOMEDCT:363444001|DOID:1964|UMLS:C0153579|MEDDRA:10025915
NCBITaxon:11723	Simian immunodeficiency virus	organism taxon	mondo	GC_ID:1		simian immunodeficiency viruses SIV|Chimpanzee immunodeficiency virus (SIV(CPZ))|SIV|Chimpanzee immunodeficiency virus|Simian immunodeficiency virus SIVcpz|simian immunodeficiency virus, SIV|CIV|simian immunodeficiency virus SIV	http://purl.obolibrary.org/obo/NCBITaxon_11723		
MONDO:0002159	fallopian tube leiomyosarcoma	biolink:Disease	mondo	NCIT:C40128|UMLS:C1517116|DOID:1965		fallopian tube leiomyosarcoma|leiomyosarcoma of fallopian tube	http://purl.obolibrary.org/obo/MONDO_0002159	An aggressive malignant smooth muscle neoplasm, arising from the fallopian tube. It is characterized by a proliferation of neoplastic spindle cells.	UMLS:C1517116|DOID:1965|NCIT:C40128
MONDO:0002152	intermittent squint	biolink:Disease	mondo	UMLS:C0152210|ICD9:378.20|ICD9:378.2|DOID:1942|ICD10:H50.30|ICD10:H50.3|SCTID:74025007		intermittent heterotropia	http://purl.obolibrary.org/obo/MONDO_0002152		SNOMEDCT:74025007|DOID:1942|UMLS:C0152210
MONDO:0002153	telogen effluvium	biolink:Disease	mondo	NCIT:C112200|ICD9:704.02|COHD:140173|DOID:1943|SCTID:39479004|UMLS:C0263518|ICD10:L65.0			http://purl.obolibrary.org/obo/MONDO_0002153	A scalp hair loss condition characterized by excessive shedding of hair in the resting phase of growth, usually following a fever or major body stress.	SNOMEDCT:39479004|UMLS:C0263518|NCIT:C112200|DOID:1943
MONDO:0002154	trichomoniasis	biolink:Disease	mondo	MESH:D014245|ICD10:A59|UMLS:C0040921|DOID:1947|ICD9:131.8|ICD9:131|SCTID:56335008|ICD9:131.9|ICD10:A59.9|NCIT:C35720		Trichomonas infection|infections, Trichomonas	http://purl.obolibrary.org/obo/MONDO_0002154	An infection that is caused by Trichomonas.	SNOMEDCT:56335008|UMLS:C0040921|DOID:1947|MESH:D014245|NCIT:C35720
MONDO:0002155	cholecystitis	biolink:Disease	mondo	ICD10:K81.9|SCTID:20824003|COHD:192956|DOID:1949|GARD:0000030|ICD9:575.10|ICD9:575.11|MESH:D002764|NCIT:C34465|ICD10:K81	gard_rare	acute and chronic cholecystitis|gall bladder inflammation|acute cholecystitis|acalculous cholecystitis|gallstone cholecystitis|chronic cholecystitis|inflammation of gall bladder|acute on chronic cholecystitis	http://purl.obolibrary.org/obo/MONDO_0002155	An acute or chronic inflammation involving the gallbladder wall. It may be associated with the presence of gallstones.	DOID:1949|SNOMEDCT:20824003|MESH:D002764|NCIT:C34465
GO:0060491	regulation of cell projection assembly	biolink:OntologyClass	mondo			regulation of cell projection formation	http://purl.obolibrary.org/obo/GO_0060491	Any process that modulates the rate, frequency, or extent of cell projection assembly.	
MONDO:0002150	hypothalamic disease	biolink:Disease	mondo	ICD9:253.9|MESH:D007027|DOID:1931|UMLS:C0020655|SCTID:399100005		disease or disorder of hypothalamus|disorder of hypothalamus|disorder of hypothalamus|disease of hypothalamus|hypothalamus disease|hypothalamus disease or disorder	http://purl.obolibrary.org/obo/MONDO_0002150	Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; autonomic nervous system diseases; sleep disorders; behavioral symptoms related to dysfunction of the limbic system; and neuroendocrine disorders.	DOID:1931|UMLS:C0020655|SNOMEDCT:399100005|MESH:D007027
MONDO:0002151	obsolete dysostosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002151		
MONDO:0014149	fetal akinesia-cerebral and retinal hemorrhage syndrome	biolink:Disease	mondo	ICD10:G71.2|UMLS:C3809272|SCTID:763346009|Orphanet:363409|OMIM:615368	ordo_disease	lethal congenital contracture syndrome 5; LCCS5|myopathy, centronuclear, lethal, autosomal recessive|lethal congenital contracture syndrome 5|LCCS5|lethal congenital contracture syndrome type 5	http://purl.obolibrary.org/obo/MONDO_0014149	Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.	UMLS:C3809272|SNOMEDCT:763346009|http://identifiers.org/omim/615368|ORPHA:363409
MONDO:0014148	estrogen resistance syndrome	biolink:Disease	mondo	Orphanet:785|OMIM:615363|EFO:0009042|UMLS:C3809250|SCTID:724555000	ordo_disease	estrogen resistance|estrogen insensitivity|ESTRR|estrogen resistance; ESTRR	http://purl.obolibrary.org/obo/MONDO_0014148	Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present.	ORPHA:785|UMLS:C3809250|SNOMEDCT:724555000|http://identifiers.org/omim/615363
MONDO:0014147	neuronal ceroid lipofuscinosis 13	biolink:Disease	mondo	Orphanet:352709|UMLS:C3715049|ICD10:E75.4|DOID:0110727|OMIM:615362	ordo_etiological_subtype	neuronal ceroid lipofuscinosis 13 Kufs type|CLN13 disease|CTSF neuronal ceroid lipofuscinosis|neuronal ceroid lipofuscinosis caused by mutation in CTSF|CLN13|ceroid lipofuscinosis, neuronal, type 13|ceroid lipofuscinosis, neuronal, 13|ceroid lipofuscinosis, neuronal, 13; CLN13|ceroid lipofuscinosis, neuronal, 13, Kufs type|neuronal ceroid lipofuscinosis type 13	http://purl.obolibrary.org/obo/MONDO_0014147	Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CTSF gene.	DOID:0110727|http://identifiers.org/omim/615362|UMLS:C3715049|ORPHA:352709
MONDO:0014146	autosomal dominant hypocalcemia 2	biolink:Disease	mondo	DOID:0090108|UMLS:C3809243|OMIM:615361		hypocalcemia, autosomal dominant 2|hypocalcemia, autosomal dominant type 2|autosomal dominant hypocalcemia type 2|HYPOC2|hypocalcemia, autosomal dominant 2; HYPOC2	http://purl.obolibrary.org/obo/MONDO_0014146	An autosomal dominant hypocalcemia disease that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.	DOID:0090108|UMLS:C3809243|http://identifiers.org/omim/615361
HGNC:18858	PIGM	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18858		
MONDO:0014141	muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B14	biolink:Disease	mondo	OMIM:615351|UMLS:C3809221		muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14|MDDGB14|muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 14; MDDGB14|muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 14|muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14; MDDGB14|muscular dystrophy, congenital, GMPPB-related	http://purl.obolibrary.org/obo/MONDO_0014141		UMLS:C3809221|http://identifiers.org/omim/615351
MONDO:0014140	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14	biolink:Disease	mondo	UMLS:C3809216|DOID:0111233|OMIM:615350		muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14; MDDGA14|Walker-Warburg syndrome or muscle-eye-brain disease, GMPPB-related|MDDGA14|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14	http://purl.obolibrary.org/obo/MONDO_0014140		UMLS:C3809216|http://identifiers.org/omim/615350|DOID:0111233
MONDO:0014145	Leber congenital amaurosis 17	biolink:Disease	mondo	DOID:0110217|UMLS:C3715164|OMIM:615360|ICD10:H35.5		Leber congenital amaurosis type 17|GDF6 Leber congenital amaurosis|LCA17|Leber congenital amaurosis 17|Leber congenital amaurosis caused by mutation in GDF6|Leber congenital amaurosis 17; LCA17	http://purl.obolibrary.org/obo/MONDO_0014145	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GDF6 gene.	DOID:0110217|http://identifiers.org/omim/615360|UMLS:C3715164
MONDO:0014144	autosomal recessive limb-girdle muscular dystrophy type 2S	biolink:Disease	mondo	OMIM:615356|GARD:0012543|DOID:0110287|UMLS:C3809236|Orphanet:369840|ICD10:G71.0	ordo_disease	muscular dystrophy, limb-girdle, type 2S|limb-girdle muscular dystrophy type 2S|LGMD2S|autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRAPPC11|TRAPPC11 autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy, limb-girdle, type 2S; LGMD2S	http://purl.obolibrary.org/obo/MONDO_0014144	Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.	DOID:0110287|UMLS:C3809236|ORPHA:369840|http://identifiers.org/omim/615356
MONDO:0014143	Noonan syndrome 8	biolink:Disease	mondo	UMLS:C3809233|DOID:0060586|OMIM:615355		Noonan syndrome 8; NS8|Noonan syndrome type 8|Noonan syndrome caused by mutation in RIT1|Noonan syndrome 8|NS8|RIT1 Noonan syndrome	http://purl.obolibrary.org/obo/MONDO_0014143	Any Noonan syndrome in which the cause of the disease is a mutation in the RIT1 gene.	UMLS:C3809233|DOID:0060586|http://identifiers.org/omim/615355
MONDO:0014142	autosomal recessive limb-girdle muscular dystrophy type 2T	biolink:Disease	mondo	ICD10:G71.0|GARD:0012544|OMIM:615352|DOID:0110294|Orphanet:363623|ICD10:G71.2|UMLS:C3714932	ordo_disease	muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related|muscular dystrophy, limb-girdle, type 2T|muscular dystrophy-dystroglycanopathy (limb-girdle) type C14|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14|LGMD2T|autosomal recessive limb-girdle muscular dystrophy caused by mutation in GMPPB|muscular dystrophy limb-girdle type 2T|GMPPB autosomal recessive limb-girdle muscular dystrophy|limb-girdle muscular dystrophy type 2T|muscular dystrophy-dystroglycanopathy, limb-girdle, GMPPB-related|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14; MDDGC14|MDDGC14	http://purl.obolibrary.org/obo/MONDO_0014142	Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.	DOID:0110294|http://identifiers.org/omim/615352|ORPHA:363623|UMLS:C3714932
MONDO:0002167	rectum malignant melanoma	biolink:Disease	mondo	DOID:1992|NCIT:C4640|SCTID:276822007|UMLS:C0349539		rectum melanoma (disease)|rectal malignant melanoma|rectal melanoma|melanoma (disease) of rectum|rectum melanoma|malignant melanoma of rectum|malignant melanoma of the rectum|melanoma of the rectum|melanoma of rectum	http://purl.obolibrary.org/obo/MONDO_0002167	An aggressive malignant melanocytic neoplasm that arises from the rectum.	UMLS:C0349539|DOID:1992|NCIT:C4640|SNOMEDCT:276822007
MONDO:0002168	rectum sarcoma	biolink:Disease	mondo	NCIT:C5548|UMLS:C1335688|DOID:1995		sarcoma of the rectum|rectal sarcoma|sarcoma of rectum|rectum sarcoma	http://purl.obolibrary.org/obo/MONDO_0002168	A malignant soft tissue neoplasm that arises from the rectum. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma.	NCIT:C5548|DOID:1995|UMLS:C1335688
MONDO:0002169	rectum adenocarcinoma	biolink:Disease	mondo	EFO:0005631|NCIT:C9383|UMLS:C0149978|DOID:1996|SCTID:254582000|ONCOTREE:READ		read|rectal adenocarcinoma|adenocarcinoma of rectum|adenocarcinoma - rectum|rectum adenocarcinoma|adenocarcinoma of the rectum	http://purl.obolibrary.org/obo/MONDO_0002169	An adenocarcinoma arising from the rectum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectal adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.	SNOMEDCT:254582000|DOID:1996|UMLS:C0149978|NCIT:C9383
MONDO:0002163	thymus lipoma	biolink:Disease	mondo	UMLS:C1336744|NCIT:C6452|DOID:1975		Thymolipoma|Thymolipomatous hamartoma|lipoma of thymus|thymus lipoma	http://purl.obolibrary.org/obo/MONDO_0002163	A well-circumscribed tumor of the thymus composed of islands of normal thymic parenchyma and mature adipose tissue. It is not clear if thymolipoma is a neoplastic or non-neoplastic lesion.	NCIT:C6452|UMLS:C1336744|DOID:1975
MONDO:0002164	focal chorioretinitis	biolink:Disease	mondo	ICD9:363.0|ICD10:H30.0|DOID:1979|COHD:437850|ICD9:363.00|UMLS:C0154870|SCTID:15847003|ICD10:H30.00			http://purl.obolibrary.org/obo/MONDO_0002164		DOID:1979|UMLS:C0154870|SNOMEDCT:15847003
MONDO:0002165	rectal neoplasm	biolink:Disease	mondo	MESH:D012004|SCTID:126847008|DOID:1984|UMLS:C0034885|NCIT:C3350		rectal tumor|rectum tumor|tumor of rectum|neoplasm of the rectum|rectum neoplasm|rectal neoplasm|rectum neoplasm (disease)|neoplasm of rectum|tumor of the rectum	http://purl.obolibrary.org/obo/MONDO_0002165	A benign or malignant neoplasm that affects the rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.	UMLS:C0034885|DOID:1984|SNOMEDCT:126847008|NCIT:C3350|MESH:D012004
MONDO:0002166	rectum lymphoma	biolink:Disease	mondo	NCIT:C5553|DOID:1988|UMLS:C1335685		lymphoma of the rectum|primary rectal lymphoma|rectal lymphoma|rectum lymphoma|lymphoma of rectum	http://purl.obolibrary.org/obo/MONDO_0002166	An extranodal lymphoma that arises from the rectum. The majority are B-cell non-Hodgkin lymphomas.	NCIT:C5553|DOID:1988|UMLS:C1335685
MONDO:0002160	obsolete cerebral palsy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002160		
MONDO:0002161	obsolete fallopian tube carcinosarcoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002161		
MONDO:0002162	fallopian tube adenosarcoma	biolink:Disease	mondo	NCIT:C40125|UMLS:C1517121|DOID:1973		fallopian tube Mullerian adenosarcoma|adenosarcoma of fallopian tube|fallopian tube adenosarcoma|fallopian tube Müllerian adenosarcoma|fallopian tube mullerian adenosarcoma	http://purl.obolibrary.org/obo/MONDO_0002162	An extremely rare malignant neoplasm that arises from the fallopian tube and is characterized by the presence of a benign epithelial component and a sarcomatous component.	UMLS:C1517121|DOID:1973|NCIT:C40125
GO:0060485	mesenchyme development	biolink:OntologyClass	mondo			mesenchymal development	http://purl.obolibrary.org/obo/GO_0060485	The process whose specific outcome is the progression of a mesenchymal tissue over time, from its formation to the mature structure. A mesenchymal tissue is made up of loosely packed stellate cells.	
MONDO:0014138	nemaline myopathy 8	biolink:Disease	mondo	OMIM:615348|NCIT:C129871|UMLS:C3809209|DOID:0110930		nemaline myopathy 8|nemaline myopathy 8, autosomal recessive|KLHL40 nemaline myopathy|nemaline myopathy type 8|nemaline myopathy 8; NEM8|nemaline myopathy caused by mutation in KLHL40|NEM8	http://purl.obolibrary.org/obo/MONDO_0014138	An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles.	NCIT:C129871|UMLS:C3809209|DOID:0110930|http://identifiers.org/omim/615348
MONDO:0014137	precocious puberty, central, 2	biolink:Disease	mondo	OMIM:615346|UMLS:C3809199		precocious puberty, central, 2|precocious puberty, central, type 2|CPPB2|MKRN3 central precocious puberty|precocious puberty, central, 2; CPPB2|central precocious puberty caused by mutation in MKRN3	http://purl.obolibrary.org/obo/MONDO_0014137	Any central precocious puberty in which the cause of the disease is a mutation in the MKRN3 gene.	UMLS:C3809199|http://identifiers.org/omim/615346
MONDO:0014136	pulmonary hypertension, primary, 4	biolink:Disease	mondo	UMLS:C3809198|OMIM:615344		pulmonary hypertension, primary, 4; PPH4|pulmonary hypertension, primary, type 4|pulmonary hypertension, primary, 4|KCNK3 primary pulmonary hypertension|PPH4|primary pulmonary hypertension caused by mutation in KCNK3	http://purl.obolibrary.org/obo/MONDO_0014136	Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene.	UMLS:C3809198|http://identifiers.org/omim/615344
MONDO:0014135	pulmonary hypertension, primary, 3	biolink:Disease	mondo	OMIM:615343|UMLS:C3809192		pulmonary hypertension, primary, type 3|pulmonary hypertension, primary, 3; PPH3|pulmonary hypertension, primary, 3|primary pulmonary hypertension caused by mutation in CAV1|PPH3|CAV1 primary pulmonary hypertension	http://purl.obolibrary.org/obo/MONDO_0014135	Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene.	UMLS:C3809192|http://identifiers.org/omim/615343
MONDO:0016797	multiple mitochondrial DNA deletion syndrome	biolink:Disease	mondo	Orphanet:254807|UMLS:CN202053	ordo_group_of_disorders	multiple mtDNA deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016797		ORPHA:254807|UMLS:CN202053
MONDO:0016798	ataxia neuropathy spectrum	biolink:Disease	mondo	Orphanet:254818|UMLS:C3683791	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016798		ORPHA:254818|UMLS:C3683791
HGNC:16205	MGME1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16205		
MONDO:0016799	mitochondrial oxidative phosphorylation disorder with no known mechanism	biolink:Disease	mondo	UMLS:CN202054|Orphanet:254822	ordo_group_of_disorders	OXPHOS disease with no known mechanism	http://purl.obolibrary.org/obo/MONDO_0016799		ORPHA:254822|UMLS:CN202054
MONDO:0014139	Ehlers-Danlos syndrome, progeroid type, 2	biolink:Disease	mondo	OMIM:615349|UMLS:C3809210		Ehlers-Danlos syndrome, spondylodysplastic type, 2; EDSSPD2|Ehlers-Danlos syndrome progeroid type caused by mutation in B3GALT6|EDSP2|Ehlers-Danlos syndrome, progeroid type, 2, formerly|EDSSPD2|Ehlers-Danlos syndrome, progeroid type, 2|Ehlers-Danlos syndrome, progeroid type, 2; EDSP2|Ehlers-Danlos syndrome, spondylodysplastic type, 2|B3GALT6 Ehlers-Danlos syndrome progeroid type	http://purl.obolibrary.org/obo/MONDO_0014139	Any Ehlers-Danlos syndrome progeroid type in which the cause of the disease is a mutation in the B3GALT6 gene.	UMLS:C3809210|http://identifiers.org/omim/615349
MONDO:0016793	mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA	biolink:Disease	mondo	UMLS:CN202050|Orphanet:254776	ordo_group_of_disorders	mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA|OXPHOS disease due to a point mutation of mitochondrial DNA|OXPHOS disease due to a point mutation of mtDNA	http://purl.obolibrary.org/obo/MONDO_0016793		ORPHA:254776|UMLS:CN202050
MONDO:0014130	Dowling-Degos disease 2	biolink:Disease	mondo	UMLS:C3809147|OMIM:615327		Dowling-Degos disease caused by mutation in POFUT1|Dowling-Degos disease 2; DDD2|DDD2|Dowling-Degos disease 2|POFUT1 Dowling-Degos disease|Dowling-Degos disease type 2	http://purl.obolibrary.org/obo/MONDO_0014130	Any Dowling-Degos disease in which the cause of the disease is a mutation in the POFUT1 gene.	UMLS:C3809147|http://identifiers.org/omim/615327
HGNC:18865	KCNT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18865		
MONDO:0016794	maternally-inherited mitochondrial myopathy	biolink:Disease	mondo	ICD10:G71.3|Orphanet:254788	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016794		ORPHA:254788
MONDO:0016795	mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA	biolink:Disease	mondo	Orphanet:254793|UMLS:CN202051	ordo_group_of_disorders	mitochondrial oxidative phosphorylation disorder due to a duplication of mtDNA|OXPHOS disease due to a duplication of mitochondrial DNA|OXPHOS disease due to a duplication of mtDNA	http://purl.obolibrary.org/obo/MONDO_0016795		ORPHA:254793|UMLS:CN202051
MONDO:0016796	mitochondrial DNA depletion syndrome, encephalomyopathic form	biolink:Disease	mondo	UMLS:CN230130|UMLS:CN202052|Orphanet:254803	ordo_group_of_disorders	mtDNA depletion syndrome, encephalomyopathic form	http://purl.obolibrary.org/obo/MONDO_0016796	Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.	ORPHA:254803|UMLS:CN202052|UMLS:CN230130
MONDO:0014134	pulmonary hypertension, primary, 2	biolink:Disease	mondo	UMLS:C3888002|OMIM:615342		pulmonary hypertension, primary, type 2|SMAD9 primary pulmonary hypertension|pulmonary hypertension, primary, 2|pulmonary hypertension, primary, 2; PPH2|PPH2|primary pulmonary hypertension caused by mutation in SMAD9	http://purl.obolibrary.org/obo/MONDO_0014134	Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene.	http://identifiers.org/omim/615342|UMLS:C3888002
MONDO:0014133	developmental and epileptic encephalopathy, 16	biolink:Disease	mondo	OMIM:615338|DOID:0080449|UMLS:C3809173		epileptic encephalopathy, early infantile, 16; EIEE16|epileptic encephalopathy, early infantile, 16|epileptic encephalopathy, early infantile, type 16|DEE16|EIEE16	http://purl.obolibrary.org/obo/MONDO_0014133		UMLS:C3809173|http://identifiers.org/omim/615338|DOID:0080449
MONDO:0016790	tricarboxylic acid cycle disorder	biolink:Disease	mondo	UMLS:CN227000|Orphanet:254749|ICD10:E88.8	ordo_group_of_disorders	TCA cycle disorder|inborn tricarboxylic acid cycle disorder|inborn error of tricarboxylic acid cycle|rare inborn error of tricarboxylic acid cycle|rare inborn error of tricarboxylic acid cycle|Krebs cycle disorder|citric acid cycle disorder	http://purl.obolibrary.org/obo/MONDO_0016790	An acquired metabolic disease that is has its basis in the disruption of tricarboxylic acid cycle.	UMLS:CN227000|ORPHA:254749
MONDO:0014132	multiple mitochondrial dysfunctions syndrome 3	biolink:Disease	mondo	ICD10:G31.8|Orphanet:363424|OMIM:615330|UMLS:C3809165|DOID:0080135	ordo_disease	multiple mitochondrial dysfunctions syndrome 3|IBA57 fatal multiple mitochondrial dysfunctions syndrome|fatal multiple mitochondrial dysfunctions syndrome caused by mutation in IBA57|multiple mitochondrial dysfunctions syndrome type 3|multiple mitochondrial dysfunctions syndrome 3; MMDS3|IBA57 deficiency|MMDS3	http://purl.obolibrary.org/obo/MONDO_0014132	Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the IBA57 gene.	UMLS:C3809165|http://identifiers.org/omim/615330|DOID:0080135|ORPHA:363424
MONDO:0016791	mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies	biolink:Disease	mondo	Orphanet:254758|UMLS:CN202048	ordo_group_of_disorders	OXPHOS disease due to mtDNA anomalies|mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies|OXPHOS disease due to mitochondrial DNA anomalies	http://purl.obolibrary.org/obo/MONDO_0016791		UMLS:CN202048|ORPHA:254758
MONDO:0016792	mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA	biolink:Disease	mondo	Orphanet:254767|UMLS:CN202049	ordo_group_of_disorders	OXPHOS disease due to a large-scale single deletion of mitochondrial DNA|OXPHOS disease due to a large-scale single deletion of mtDNA|mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA	http://purl.obolibrary.org/obo/MONDO_0016792		ORPHA:254767|UMLS:CN202049
MONDO:0014131	hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	biolink:Disease	mondo	Orphanet:363523|OMIM:615328|UMLS:C3809160|ICD10:Q82.8	ordo_disease	SHAHEEN syndrome|SHAHEEN syndrome; SHNS|SHNS	http://purl.obolibrary.org/obo/MONDO_0014131		UMLS:C3809160|http://identifiers.org/omim/615328|ORPHA:363523
HGNC:18831	CTHRC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18831		
GO:0035461	vitamin transmembrane transport	biolink:OntologyClass	mondo			vitamin membrane transport	http://purl.obolibrary.org/obo/GO_0035461	The process in which a vitamin is transported across a membrane. A vitamin is one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body.	
MONDO:0014192	primary ciliary dyskinesia 22	biolink:Disease	mondo	UMLS:C3809543|ICD10:Q34.8|OMIM:615444|DOID:0110597		ciliary dyskinesia, primary, 22|primary ciliary dyskinesia caused by mutation in ZMYND10|ZMYND10 primary ciliary dyskinesia|ciliary dyskinesia, primary, 22, with or without situs inversus|ciliary dyskinesia, primary, 22; CILD22|ciliary dyskinesia, primary, type 22|CILD22|primary ciliary dyskinesia type 22|primary ciliary dyskinesia 22 with or without situs inversus	http://purl.obolibrary.org/obo/MONDO_0014192	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ZMYND10 gene.	DOID:0110597|UMLS:C3809543|http://identifiers.org/omim/615444
MONDO:0014191	catecholaminergic polymorphic ventricular tachycardia 5	biolink:Disease	mondo	DOID:0060679|OMIM:615441|UMLS:C3809536|ICD10:I47.2		catecholaminergic polymorphic ventricular tachycardia type 5|CVPT5|ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness; CPVT5|ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness|CPVT5|TRDN catecholaminergic polymorphic ventricular tachycardia|catecholaminergic polymorphic ventricular tachycardia caused by mutation in TRDN	http://purl.obolibrary.org/obo/MONDO_0014191	Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TRDN gene.	UMLS:C3809536|DOID:0060679|http://identifiers.org/omim/615441
MONDO:0014190	combined oxidative phosphorylation defect type 17	biolink:Disease	mondo	Orphanet:369913|ICD10:E88.8|OMIM:615440|UMLS:C3809526|DOID:0111496	ordo_disease|clingen	combined oxidative phosphorylation deficiency 17; COXPD17|COXPD17|ELAC2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency type 17|combined oxidative phosphorylation deficiency caused by mutation in ELAC2|combined oxidative phosphorylation deficiency 17	http://purl.obolibrary.org/obo/MONDO_0014190	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the ELAC2 gene.	DOID:0111496|UMLS:C3809526|ORPHA:369913|http://identifiers.org/omim/615440
MONDO:0041751	multibacillary leprosy	biolink:Disease	mondo	SCTID:416257001		lepromatous leprosy|multibacillary leprosy	http://purl.obolibrary.org/obo/MONDO_0041751	A lepromatous form of leprosy that is characterized by numerous infiltrated skin lesions displaying high bacillary loads, impaired peripheral nerves, possible involvement of internal organs, and a Th2-mediated immune response.	SNOMEDCT:416257001
MONDO:0041752	paucibacillary leprosy	biolink:Disease	mondo	SCTID:416483009		paucibacillary leprosy|tuberculoid leprosy	http://purl.obolibrary.org/obo/MONDO_0041752	A tuberculoid form of leprosy that is characterized by a small number of hypopigmented, well-bordered, anesthetic skin lesions with a low bacillary load, early peripheral nerve impairment, and a T-helper 1 (Th1)–mediated immune response.	SNOMEDCT:416483009
MONDO:0014196	Hartsfield-Bixler-Demyer syndrome	biolink:Disease	mondo	UMLS:C1845146|Orphanet:2117|OMIM:615465|SCTID:766032007|MESH:C564484|ICD10:Q87.8	ordo_malformation_syndrome	holoprosencephaly, ectrodactyly, and bilateral cleft Lip/palate|HARTSFIELD syndrome|HRTFDS|holoprosencephaly-ectrodactyly-cleft lip/palate syndrome|holoprosencephaly-ectrodactyly-cleft lip palate syndrome|HARTSFIELD syndrome; HRTFDS	http://purl.obolibrary.org/obo/MONDO_0014196		UMLS:C1845146|ORPHA:2117|MESH:C564484|SNOMEDCT:766032007|http://identifiers.org/omim/615465
MONDO:0014195	microcornea-myopic chorioretinal atrophy-telecanthus syndrome	biolink:Disease	mondo	OMIM:615458|Orphanet:369970|UMLS:C3809567|ICD10:Q15.8	ordo_disease	microcornea, myopic chorioretinal atrophy, and telecanthus; MMCAT|MMCAT syndrome|MMCAT|microcornea, myopic chorioretinal atrophy, and telecanthus	http://purl.obolibrary.org/obo/MONDO_0014195		ORPHA:369970|UMLS:C3809567|http://identifiers.org/omim/615458
MONDO:0014194	mitochondrial complex III deficiency nuclear type 6	biolink:Disease	mondo	DOID:0080115|UMLS:C3809553|OMIM:615453		mitochondrial complex III deficiency, nuclear type 6; MC3DN6|MC3DN6|CYC1 mitochondrial complex III deficiency|mitochondrial complex III deficiency, nuclear type 6|mitochondrial complex III deficiency caused by mutation in CYC1|mitochondrial Complex 3 deficiency, nuclear type 6	http://purl.obolibrary.org/obo/MONDO_0014194	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the CYC1 gene.	DOID:0080115|UMLS:C3809553|http://identifiers.org/omim/615453
MONDO:0014193	primary ciliary dyskinesia 23	biolink:Disease	mondo	DOID:0110609|OMIM:615451|ICD10:Q34.8|UMLS:C3809548		CILD23|ciliary dyskinesia, primary, 23, with or without situs inversus|primary ciliary dyskinesia type 23|ciliary dyskinesia, primary, 23; CILD23|ARMC4 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 23|primary ciliary dyskinesia 23 with or without situs inversus|ciliary dyskinesia, primary, 23|primary ciliary dyskinesia caused by mutation in ARMC4	http://purl.obolibrary.org/obo/MONDO_0014193	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ARMC4 gene.	UMLS:C3809548|DOID:0110609|http://identifiers.org/omim/615451
MONDO:0014199	developmental and epileptic encephalopathy, 17	biolink:Disease	mondo	OMIM:615473|UMLS:C3809606|GARD:0013378|DOID:0080450		epileptic encephalopathy, early infantile, 17|epileptic encephalopathy, early infantile, type 17|early infantile epileptic encephalopathy caused by mutation in GNAO1|DEE17|early infantile epileptic encephalopathy-17|GNAO1 encephalopathy|GNAO1 early infantile epileptic encephalopathy|EIEE17|epileptic encephalopathy, early infantile, 17; EIEE17	http://purl.obolibrary.org/obo/MONDO_0014199	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GNAO1 gene.	http://identifiers.org/omim/615473|DOID:0080450|UMLS:C3809606
MONDO:0014198	mitochondrial DNA depletion syndrome 13	biolink:Disease	mondo	SCTID:765403009|GARD:0013298|ICD10:E88.8|UMLS:C3809592|Orphanet:369897|DOID:0080131|OMIM:615471	ordo_disease	mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies|mitochondrial DNA depletion syndrome 13 (encephalomyopathic type); MTDPS13|mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)|FBXL4 deficiency|FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome|mitochondrial DNA depletion syndrome caused by mutation in FBXL4|MTDPS13|BXL4-related early-onset mitochondrial encephalopathy|mitochondrial DNA depletion syndrome type 13|mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies|FBXL4 mitochondrial DNA depletion syndrome|encephalomyopathic mitochondrial DNA depletion syndrome-13	http://purl.obolibrary.org/obo/MONDO_0014198	Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene.	SNOMEDCT:765403009|DOID:0080131|ORPHA:369897|UMLS:C3809592|http://identifiers.org/omim/615471
MONDO:0014197	combined immunodeficiency due to MALT1 deficiency	biolink:Disease	mondo	ICD10:D81.8|OMIM:615468|Orphanet:397964|UMLS:C3809583	ordo_disease	IMD12|immunodeficiency type 12|immunodeficiency 12|immunodeficiency 12; IMD12	http://purl.obolibrary.org/obo/MONDO_0014197	Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections.	UMLS:C3809583|ORPHA:397964|http://identifiers.org/omim/615468
MONDO:0014181	amyotrophic lateral sclerosis type 20	biolink:Disease	mondo	OMIM:615426|UMLS:C3715156|DOID:0060211		amyotrophic lateral sclerosis caused by mutation in HNRNPA1|amyotrophic lateral sclerosis type 20|amyotrophic lateral sclerosis 20|ALS20|HNRNPA1 amyotrophic lateral sclerosis|amyotrophic lateral sclerosis 20; ALS20	http://purl.obolibrary.org/obo/MONDO_0014181	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the HNRNPA1 gene.	DOID:0060211|http://identifiers.org/omim/615426|UMLS:C3715156
MONDO:0014180	epidermolysis bullosa simplex due to BP230 deficiency	biolink:Disease	mondo	OMIM:615425|Orphanet:412181|ICD10:Q81.0|UMLS:C3809470	ordo_disease	epidermolysis bullosa simplex, autosomal recessive 2|EBS-AR BP230|EBSB2|epidermolysis bullosa simplex, autosomal recessive type 2|DST-related epidermolysis bullosa simplex|epidermolysis bullosa simplex, autosomal recessive 2; EBSB2	http://purl.obolibrary.org/obo/MONDO_0014180		ORPHA:412181|UMLS:C3809470|http://identifiers.org/omim/615425
MONDO:0002196	perinatal intestinal perforation	biolink:Disease	mondo	DOID:2073|COHD:199925|UMLS:C0159006|SCTID:65390006|ICD9:777.6|ICD10:P78.0			http://purl.obolibrary.org/obo/MONDO_0002196		UMLS:C0159006|SNOMEDCT:65390006|DOID:2073
MONDO:0002197	minor vestibular glands adenoma	biolink:Disease	mondo	UMLS:C1510791|NCIT:C40301|DOID:2075		minor vestibular gland adenoma|adenoma of minor vestibular glands	http://purl.obolibrary.org/obo/MONDO_0002197	A rare, benign neoplasm that arises from the vulva It is characterized by the presence of clusters of small glands lined by mucinous epithelial cells. Bartholin duct structures are not present.	NCIT:C40301|DOID:2075|UMLS:C1510791
MONDO:0002198	vulvar glandular neoplasm	biolink:Disease	mondo	UMLS:C1520082|NCIT:C40292|DOID:2076		mammalian vulva glandular cell neoplasm|vulvar glandular tumor|vulvar glandular neoplasm	http://purl.obolibrary.org/obo/MONDO_0002198	A benign or malignant neoplasm that arises from the vulva and is composed of glandular epithelial cells. Representative examples include adenoma of the minor vestibular glands, Bartholin gland adenoma, and Bartholin gland adenocarcinoma.	UMLS:C1520082|NCIT:C40292|DOID:2076
MONDO:0002199	benign mixed tumor of the vulva	biolink:Disease	mondo	UMLS:C1511091|DOID:2078|NCIT:C40302		benign mixed tumor of the vulva|chondroid syringoma of the vulva	http://purl.obolibrary.org/obo/MONDO_0002199	A benign neoplasm that arises from the vulva and is characterized by the presence of epithelial cells forming nests and tubules in a fibrotic stroma. It may recur locally and complete excision is recommended.	NCIT:C40302|UMLS:C1511091|DOID:2078
MONDO:0002192	vulvar angiokeratoma	biolink:Disease	mondo	SCTID:402841001|UMLS:C1274281|NCIT:C8596|DOID:2066		mammalian vulva angiokeratoma of Fordyce|angiokeratoma of Fordyce of mammalian vulva|angiokeratoma of mammalian vulva|mammalian vulva angiokeratoma	http://purl.obolibrary.org/obo/MONDO_0002192	An uncommon benign lesion in the vulva. It manifests with multiple papular lesions which are purple in color. They are usually asymptomatic. Histologically, there is hyperkeratosis, papillomatosis, and dilated blood vessels in the papillary dermis.	NCIT:C8596|DOID:2066|SNOMEDCT:402841001|UMLS:C1274281
MONDO:0002193	Bartholin gland benign neoplasm	biolink:Disease	mondo	SCTID:189130001|DOID:2068		major vestibular gland benign neoplasm|Bartholin gland neoplasm|tumor of Bartholin's gland	http://purl.obolibrary.org/obo/MONDO_0002193	A benign neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma.	DOID:2068|SNOMEDCT:189130001
MONDO:0002194	vestibular papilloma	biolink:Disease	mondo	UMLS:C1336982|DOID:2071|NCIT:C6376		mammalian vulva squamous papilloma|vestibular papilloma|vulvar squamous papilloma	http://purl.obolibrary.org/obo/MONDO_0002194	A benign papillary neoplasm that arises from the vulva and is characterized by the presence of a delicate fibrovascular stalk lined by squamous epithelium. There is no evidence of epithelial atypia.	UMLS:C1336982|DOID:2071|NCIT:C6376
MONDO:0002195	vulvar squamous neoplasm	biolink:Disease	mondo	DOID:2072|NCIT:C40283|UMLS:C1520097		mammalian vulva squamous cell neoplasm|vulvar squamous neoplasm|vulvar squamous tumor	http://purl.obolibrary.org/obo/MONDO_0002195	A benign, precancerous, or malignant neoplasm that arises from the squamous epithelium of the vulva. Representative examples include vestibular papilloma, intraepithelial neoplasia, and squamous cell carcinoma.	UMLS:C1520097|NCIT:C40283|DOID:2072
GO:0035441	cell migration involved in vasculogenesis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0035441	The orderly movement of a cell from one site to another that will contribute to the differentiation of an endothelial cell that will form de novo blood vessels and tubes.	
MONDO:0002190	vulvar syringoma	biolink:Disease	mondo	NCIT:C40311|DOID:2064|UMLS:C1520099		mammalian vulva syringoma|vulvar syringoma|syringoma of mammalian vulva	http://purl.obolibrary.org/obo/MONDO_0002190	A benign neoplasm that arises from eccrine ducts in the vulva and is characterized by the presence of tubules and cysts which are lined by epithelial cells in the densely fibrotic dermis.	NCIT:C40311|DOID:2064|UMLS:C1520099
MONDO:0002191	syringoma	biolink:Disease	mondo	GARD:0010547|ICDO:8407/0|DOID:2065|UMLS:C0206673|NCIT:C3761|MESH:D018252|SCTID:302828001		eccrine syringoma|syringoma	http://purl.obolibrary.org/obo/MONDO_0002191	A benign sweat gland neoplasm usually affecting the lower eyelids and upper cheeks. The lesions are papular and are usually numerous. Morphologically, there are nests, cords, and tubules of epithelial cells present, surrounded by a dense stroma in the reticular dermis.	NCIT:C3761|UMLS:C0206673|DOID:2065|MESH:D018252|SNOMEDCT:302828001
HGNC:18817	HPS6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18817		
MONDO:0041755	twin reversal arterial perfusion syndrome	biolink:Disease	mondo	SCTID:417006004|UMLS:C1562817		twin reversal arterial perfusion syndrome	http://purl.obolibrary.org/obo/MONDO_0041755		UMLS:C1562817|SNOMEDCT:417006004
MONDO:0014185	chromosome 3q13.31 deletion syndrome	biolink:Disease	mondo	MESH:C536808|DOID:0060418|SCTID:726705007|ICD10:Q93.5|UMLS:CN036884|OMIM:615433|UMLS:C3809490|Orphanet:1621	ordo_malformation_syndrome	chromosome 3q13.31 deletion syndrome|monosomy 3q13|Del(3)(q13)|3q13 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0014185	3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present.	http://identifiers.org/omim/615433|UMLS:CN036884|SNOMEDCT:726705007|ORPHA:1621|MESH:C536808|UMLS:C3809490|DOID:0060418|UMLS:C2931338
HGNC:18810	CATSPER2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18810		
MONDO:0014184	specific language impairment 5	biolink:Disease	mondo	OMIM:615432|UMLS:C3809483		specific language impairment 5|specific language impairment 5; SLI5|specific language impairment type 5|SLI5	http://purl.obolibrary.org/obo/MONDO_0014184	A communication disorder that involves the processing of linguistic information.	UMLS:C3809483|http://identifiers.org/omim/615432
MONDO:0014183	myopia 23, autosomal recessive	biolink:Disease	mondo	UMLS:C3809482|OMIM:615431		MYP23|myopia 23, autosomal recessive; MYP23|myopia 23, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0014183		UMLS:C3809482|http://identifiers.org/omim/615431
MONDO:0014182	autosomal recessive nonsyndromic deafness 88	biolink:Disease	mondo	ICD10:H90.3|OMIM:615429|DOID:0110533|UMLS:C2829267		autosomal recessive deafness 88|autosomal recessive nonsyndromic deafness caused by mutation in ELMOD3|autosomal recessive nonsyndromic deafness type 88|deafness, autosomal recessive type 88|deafness, autosomal recessive 88; DFNB88|ELMOD3 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 88|DFNB88	http://purl.obolibrary.org/obo/MONDO_0014182	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ELMOD3 gene.	UMLS:C2829267|DOID:0110533|http://identifiers.org/omim/615429
MONDO:0014189	age related macular degeneration 13	biolink:Disease	mondo	DOID:0110025|OMIM:615439|UMLS:C3809523		age-related macular degeneration caused by mutation in CFI|macular degeneration, age-related, 13; ARMD13|age related macular degeneration type 13|ARMD13|macular degeneration, age-related, 13|CFI age-related macular degeneration|macular Degeneration, age-related, type 13	http://purl.obolibrary.org/obo/MONDO_0014189	Any age-related macular degeneration in which the cause of the disease is a mutation in the CFI gene.	http://identifiers.org/omim/615439|DOID:0110025|UMLS:C3809523
MONDO:0014188		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0014188		
MONDO:0014187	aortic aneurysm, familial thoracic 8	biolink:Disease	mondo	UMLS:C3809513|OMIM:615436		familial thoracic aortic aneurysm and aortic dissection caused by mutation in PRKG1|aortic aneurysm, familial thoracic type 8|aortic aneurysm, familial thoracic 8; AAT8|aortic aneurysm, familial thoracic 8|PRKG1 familial thoracic aortic aneurysm and aortic dissection|AAT8	http://purl.obolibrary.org/obo/MONDO_0014187	Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the PRKG1 gene.	http://identifiers.org/omim/615436|UMLS:C3809513
MONDO:0014186	retinitis pigmentosa with or without situs inversus	biolink:Disease	mondo	ICD10:H35.5|OMIM:615434|UMLS:C3809503|DOID:0110419		retinitis pigmentosa caused by mutation in ARL2BP|ARL2BP retinitis pigmentosa|retinitis pigmentosa with or without situs inversus	http://purl.obolibrary.org/obo/MONDO_0014186	Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL2BP gene.	http://identifiers.org/omim/615434|DOID:0110419|UMLS:C3809503
MONDO:0014170	complex cortical dysplasia with other brain malformations 3	biolink:Disease	mondo	UMLS:C3809414|OMIM:615411|DOID:0090134		cortical dysplasia, complex, with other brain malformations 3|complex cortical dysplasia with other brain malformations type 3|KIF2A complex cortical dysplasia with other brain malformations|cortical dysplasia, Complex, with Other brain malformations type 3|complex cortical dysplasia with other brain malformations caused by mutation in KIF2A|CDCBM3|cortical dysplasia, complex, with other brain malformations 3; CDCBM3	http://purl.obolibrary.org/obo/MONDO_0014170	Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF2A gene.	DOID:0090134|UMLS:C3809414|http://identifiers.org/omim/615411
HGNC:18829	KLHL10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18829		
MONDO:0014179	inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3	biolink:Disease	mondo	DOID:0111386|UMLS:C3809469|OMIM:615424		inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 3|inclusion body myopathy with Paget disease of bone and frontotemporal dementia caused by mutation in HNRNPA1|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3; IBMPFD3|IBMPFD3|HNRNPA1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia|multisystem Proteinopathy 3	http://purl.obolibrary.org/obo/MONDO_0014179	Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA1 gene.	http://identifiers.org/omim/615424|DOID:0111386|UMLS:C3809469
HGNC:18828	NDUFAF1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18828		
MONDO:0014174	renal-hepatic-pancreatic dysplasia 2	biolink:Disease	mondo	OMIM:615415|UMLS:C3809434		NEK8 renal-hepatic-pancreatic dysplasia|renal-hepatic-pancreatic dysplasia 2|RHPD2|renal-hepatic-pancreatic dysplasia caused by mutation in NEK8|renal-hepatic-pancreatic dysplasia type 2|renal-hepatic-pancreatic dysplasia 2; RHPD2	http://purl.obolibrary.org/obo/MONDO_0014174	Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene.	http://identifiers.org/omim/615415|UMLS:C3809434
HGNC:18821	LIPI	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18821		
MONDO:0014173	microcephaly 11, primary, autosomal recessive	biolink:Disease	mondo	OMIM:615414|DOID:0070287|UMLS:C3809431		microcephaly 11, primary, autosomal recessive; MCPH11|microcephaly 11, primary, autosomal recessive|MCPH11|PHC1 autosomal recessive primary microcephaly|autosomal recessive primary microcephaly caused by mutation in PHC1	http://purl.obolibrary.org/obo/MONDO_0014173	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the PHC1 gene.	http://identifiers.org/omim/615414|DOID:0070287|UMLS:C3809431
MONDO:0014172	spermatogenic failure 12	biolink:Disease	mondo	DOID:0070171|UMLS:C3809427|OMIM:615413		azoospermia caused by mutation in NANOS1|spermatogenic failure type 12|SPGF12|spermatogenic failure 12; SPGF12|NANOS1 azoospermia|spermatogenic failure 12	http://purl.obolibrary.org/obo/MONDO_0014172	Any azoospermia in which the cause of the disease is a mutation in the NANOS1 gene.	http://identifiers.org/omim/615413|DOID:0070171|UMLS:C3809427
MONDO:0014171	complex cortical dysplasia with other brain malformations 4	biolink:Disease	mondo	OMIM:615412|DOID:0090138|UMLS:C3809420		cortical dysplasia, complex, with other brain malformations 4|TUBG1 complex cortical dysplasia with other brain malformations|CDCBM4|complex cortical dysplasia with other brain malformations caused by mutation in TUBG1|cortical dysplasia, Complex, with Other brain malformations type 4|complex cortical dysplasia with other brain malformations type 4|cortical dysplasia, complex, with other brain malformations 4; CDCBM4	http://purl.obolibrary.org/obo/MONDO_0014171	Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBG1 gene.	http://identifiers.org/omim/615412|DOID:0090138|UMLS:C3809420
MONDO:0014178	inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	biolink:Disease	mondo	DOID:0111384|UMLS:C3809468|OMIM:615422		inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 2|inclusion body myopathy with Paget disease of bone and frontotemporal dementia caused by mutation in HNRNPA2B1|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2; IBMPFD2|HNRNPA2B1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia|multisystem Proteinopathy 2|IBMPFD2	http://purl.obolibrary.org/obo/MONDO_0014178	Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA2B1 gene.	http://identifiers.org/omim/615422|DOID:0111384|UMLS:C3809468
MONDO:0014177	myopia 22, autosomal dominant	biolink:Disease	mondo	OMIM:615420|UMLS:C3809464		myopia 22, autosomal dominant; MYP22|MYP22|myopia 22, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0014177		http://identifiers.org/omim/615420|UMLS:C3809464
MONDO:0014176	hypotonia, infantile, with psychomotor retardation and characteristic facies	biolink:Disease	mondo	OMIMPS:615419|DC:0000718	prototype_pattern	hypotonia, infantile, with psychomotor retardation and characteristic facies|IHPRF	http://purl.obolibrary.org/obo/MONDO_0014176		
MONDO:0014175	mitochondrial DNA depletion syndrome 12	biolink:Disease	mondo	UMLS:C4321247|NCIT:C129977|DOID:0080335|OMIM:615418|DOID:0080130		mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive; MTDPS12B|mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)|mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive|MTDPS12B|mitochondrial DNA depletion syndrome type 12|MTDPS12|mitochondrial DNA depletion syndrome 12 (cardiomyopathic type); MTDPS12	http://purl.obolibrary.org/obo/MONDO_0014175	An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy.	http://identifiers.org/omim/615418|DOID:0080130|DOID:0080335|UMLS:C4321247|NCIT:C129977
MONDO:0004757	chronic ethmoidal sinusitis	biolink:Disease	mondo	DOID:9312|ICD10:J32.2|COHD:132932|SCTID:73237007|ICD9:473.2|NCIT:C34472|UMLS:C0008681		chronic ethmoid sinusitis|chronic ethmoidal sinusitis|ethmoid sinusitis, chronic|ethmoidal sinusitis - chronic|chronic ethmoiditis	http://purl.obolibrary.org/obo/MONDO_0004757	Inflammation of the ethmoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.	DOID:9312|SNOMEDCT:73237007|NCIT:C34472|UMLS:C0008681
MONDO:0004756	nasal cavity neoplasm	biolink:Disease	mondo	DOID:9310|SCTID:126670003|NCIT:C4413|UMLS:C0345630		nasal cavity tumor|nasal cavity neoplasm (disease)|tumor of nasal cavity|nasal cavity neoplasm|neoplasm of the nasal cavity|tumor of the nasal cavity|neoplasm of nasal cavity	http://purl.obolibrary.org/obo/MONDO_0004756	A benign or malignant neoplasm that affects the nasal cavity. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.	DOID:9310|NCIT:C4413|SNOMEDCT:126670003|UMLS:C0345630
NCBITaxon:35793	Rickettsia sibirica	organism taxon	mondo	PMID:17114787|GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_35793		
CHEBI:48730	aluminosilicate mineral	biolink:ChemicalSubstance	mondo			Alumosilikat|aluminosilicates|Alumosilikate|aluminosilicato	http://purl.obolibrary.org/obo/CHEBI_48730	Silicate minerals that contain aluminium, silicon, and oxygen, together with other ions. They are a major component of clay minerals.	
MONDO:0004759	bestiality	biolink:Disease	mondo	DOID:9336|ICD9:302.1|SCTID:81463002|COHD:438999		zoophilia	http://purl.obolibrary.org/obo/MONDO_0004759		DOID:9336|SNOMEDCT:81463002
NCBITaxon:35792	Rickettsia parkeri	organism taxon	mondo	GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_35792		
MONDO:0004758	scotoma (disease)	biolink:Disease	mondo	HP:0000575|ICD10:H53.43|DOID:9335|ICD10:H53.42|ICD9:368.45|ICD9:368.44|ICD9:368.43|ICD9:368.42|MESH:D012607|ICD10:H53.45		enlarged angioscotoma|scotoma|enlarged paracaecal scotoma|generalized visual field contraction or constriction|sector or arcuate visual field defects|blind spot area scotoma|scotoma of blind spot area|enlarged blind spot	http://purl.obolibrary.org/obo/MONDO_0004758	A localized defect in the visual field bordered by an area of normal vision. This occurs with a variety of eye diseases (e.g., retinal diseases and glaucoma); optic nerve diseases, and other conditions.	DOID:9335|MESH:D012607
NCBITaxon:35790	Rickettsia japonica	organism taxon	mondo	PMID:1581190|GC_ID:11|PMID:2516664			http://purl.obolibrary.org/obo/NCBITaxon_35790		
MONDO:0004753	mechanical strabismus	biolink:Disease	mondo	ICD10:H50.6|ICD10:H50.60|ICD9:378.60|ICD9:378.6|DOID:9306|COHD:378157|SCTID:5371001|UMLS:C0152223			http://purl.obolibrary.org/obo/MONDO_0004753		SNOMEDCT:5371001|UMLS:C0152223|DOID:9306
MONDO:0004752	neurofibroma of the heart	biolink:Disease	mondo	DOID:9300|NCIT:C5359|UMLS:C1096349		neurofibroma of heart|Cardiac neurofibroma|neurofibroma of the heart|heart neurofibroma	http://purl.obolibrary.org/obo/MONDO_0004752	A rare neurofibroma that affects the heart.	UMLS:C1096349|NCIT:C5359|DOID:9300
MONDO:0004755	monieziasis	biolink:Disease	mondo	UMLS:C0026414|MESH:D008989|DOID:931|EFO:1001372			http://purl.obolibrary.org/obo/MONDO_0004755	Infection of ruminants with tapeworms of the genus Moniezia.	UMLS:C0026414|DOID:931|MESH:D008989
MONDO:0004754	rectal prolapse (disease)	biolink:Disease	mondo	HP:0002035|UMLS:C0034888|DOID:9307|ICD9:569.1|NCIT:C34973|ICD10:K62.3		procidentia, rectum|rectal prolapse	http://purl.obolibrary.org/obo/MONDO_0004754	Protrusion of the rectum through the anus.	UMLS:C0034888|NCIT:C34973|DOID:9307
MONDO:0004751	disease of orbital part of eye adnexa	biolink:Disease	mondo	MESH:D009916|ICD10:H05.9|UMLS:C0029182|ICD9:376|ICD9:376.9|ICD10:H05|DOID:930		orbital disease	http://purl.obolibrary.org/obo/MONDO_0004751	Diseases of the bony orbit and contents except the eyeball.	MESH:D009916|DOID:930|UMLS:C0029182
MONDO:0004750	language disorder	biolink:Disease	mondo	HP:0002463|MESH:D007806|NCIT:C97155|EFO:0005425|ICD10:F80.9|DOID:93			http://purl.obolibrary.org/obo/MONDO_0004750	A category of disorders characterized by an impairment in the development of an individual's language capabilities, which is in contrast to his/her non-verbal intellect.	DOID:93|MESH:D007806|NCIT:C97155
MONDO:0016739	yolk sac tumor of central nervous system	biolink:Disease	mondo	NCIT:C7011|UMLS:CN201987|Orphanet:252006	ordo_clinical_subtype	yolk Sac tumor of central nervous system|yolk Sac tumor of the central nervous system|endodermal sinus tumor of central nervous system|endodermal sinus tumor of CNS|intracranial yolk sac tumor|yolk Sac tumor of the CNS|yolk Sac tumor of CNS|central nervous system yolk Sac tumor|CNS yolk Sac tumor|intracranial endodermal sinus tumor|yolk sac tumor of CNS	http://purl.obolibrary.org/obo/MONDO_0016739	A malignant germ cell tumor of the central nervous system composed of primitive-appearing epithelial cells - putatively representing yolk sac endoderm - set in a loose, variably cellular, and often conspicuously myxoid matrix, resembling extra-embryonic mesoblast. Eosinophilic hyaline globules immunoreactive for AFP are a diagnostic feature. (WHO)	UMLS:CN201987|NCIT:C7011|ORPHA:252006
CHEBI:83057	Daphnia metabolite	biolink:ChemicalSubstance	mondo			Daphnia metabolites	http://purl.obolibrary.org/obo/CHEBI_83057	A crustacean metabolite produced by the genus of small planktonic arthropods, Daphnia	
MONDO:0016746	meningeal melanocytoma	biolink:Disease	mondo	NCIT:C4662|ICDO:8728/1|DOID:5900|SCTID:277527003|Orphanet:252046|UMLS:C1266113|EFO:1000370	ordo_disease	meninges melanocytoma|melanocytoma of meninges|melanocytoma of the meninges|leptomeningeal melanocytoma	http://purl.obolibrary.org/obo/MONDO_0016746	A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative.	NCIT:C4662|UMLS:C1266113|SNOMEDCT:277527003|DOID:5900|ORPHA:252046
MONDO:0016747	primary melanoma of the central nervous system	biolink:Disease	mondo	Orphanet:252050|NCIT:C5505|UMLS:C0349626|UMLS:CN201994|GARD:0012016|ONCOTREE:PCNSM	ordo_disease|gard_rare	central nervous system melanoma|malignant melanoma of meninges|melanoma (disease) of central nervous system|primary melanoma of the CNS|melanoma of central nervous system|melanoma of the Central nervous system|central nervous system melanoma (disease)|primary meningeal melanoma|melanoma of the CNS|melanoma of CNS|primary CNS melanoma|Central nervous system melanoma|CNS melanoma	http://purl.obolibrary.org/obo/MONDO_0016747	A melanoma that affects the central nervous system. It is characterized by pleomorphism, melanin pigmentation, a high mitotic rate, necrosis, and hemorrhage. It is a highly aggressive and radioresistant tumor. The prognosis is usually poor.	NCIT:C5505|UMLS:CN201994|ORPHA:252050|UMLS:C0349626
CHEBI:83056	Daphnia magna metabolite	biolink:ChemicalSubstance	mondo			Daphnia magna metabolites	http://purl.obolibrary.org/obo/CHEBI_83056	A Daphnia metabolite produced by the species Daphnia magna.	
MONDO:0016748	hemangioblastoma	biolink:Disease	mondo	ONCOTREE:HMBL|GARD:0008232|DOID:5241|ICD10:D33.4|ICD10:D33.7|MedDRA:10018813|NCIT:C3801|MESH:D018325|Orphanet:252054|ICDO:9161/1|UMLS:C0206734	ordo_disease	HMBL|capillary hemangioblastoma|angioblastoma|hemangioblastoma	http://purl.obolibrary.org/obo/MONDO_0016748	Hemangioblastoma is a rare, benign, highly vascularized tumor of the central nervous system, most often located in the cerebellum or spinal cord, presenting in adulthood and manifesting with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and often associated with von Hippel-Lindau disease (VHL). Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported.	NCIT:C3801|DOID:5241|MEDDRA:10018813|UMLS:C0206734|ORPHA:252054|MESH:D018325
UBERON:0001394	axillary artery	biolink:AnatomicalEntity	mondo			axillary part of subclavian artery|axillary part of trunk of subclavian artery|arteria axillaris	http://purl.obolibrary.org/obo/UBERON_0001394	Artery that supplies the axilla	
MONDO:0016749	tumor of cranial and spinal nerves	biolink:Disease	mondo	UMLS:CN201996|Orphanet:252057|GARD:0012697	gard_rare|ordo_group_of_disorders	rare tumor of cranial and spinal nerves	http://purl.obolibrary.org/obo/MONDO_0016749		UMLS:CN201996|ORPHA:252057
MONDO:0016742	mixed germ cell tumor of central nervous system	biolink:Disease	mondo	UMLS:CN201989|NCIT:C7016|Orphanet:252021|UMLS:C1334785	ordo_clinical_subtype	mixed germ cell tumor of the CNS|CNS mixed germ cell tumor|mixed germ cell tumor of the central nervous system|central nervous system mixed germ cell tumor|mixed germ cell neoplasm of the central nervous system|mixed germ cell tumor of CNS	http://purl.obolibrary.org/obo/MONDO_0016742	A malignant germ cell tumor of the central nervous system characterized by the presence of at least two types of germ cell neoplasia.	UMLS:C1334785|UMLS:CN201989|NCIT:C7016|ORPHA:252021
MONDO:0016743	tumor of meninges	biolink:Disease	mondo	SCTID:126965008|MedDRA:10061282|ICD9:239.7|Orphanet:252025|UMLS:C0025284|NCIT:C3229|ONCOTREE:MNGT	ordo_group_of_disorders	tumor of meningeal cluster|meningeal tumor|meningeal neoplasm|tumor of meninges|tumor of the meninges|meningothelial tumor|meningeal neoplasms|meningeal cluster neoplasm (disease)|neoplasm of meningeal cluster|meninges neoplasm|meningeal cluster tumor|neoplasm of meninges|meningeal cluster rare nervous system tumor|neoplasm of the meninges|meninges tumor|meningeal cluster neoplasm	http://purl.obolibrary.org/obo/MONDO_0016743	A benign or malignant neoplasm that affects the meninges. The majority of the neoplasms arise from meningothelial cells and are called meningiomas. Non-meningothelial cell neoplasms include mesenchymal, non-meningothelial tumors, hemangiopericytomas, and melanocytic lesions.	NCIT:C3229|SNOMEDCT:126965008|UMLS:C0025284|ORPHA:252025|MEDDRA:10061282
MONDO:0016744	primary melanocytic tumor of central nervous system	biolink:Disease	mondo	Orphanet:252028|UMLS:CN201991	ordo_group_of_disorders	primary melanocytic lesion of CNS|primary melanocytic tumor of CNS|primary melanocytic lesion of central nervous system	http://purl.obolibrary.org/obo/MONDO_0016744		UMLS:CN201991|ORPHA:252028
MONDO:0016745	diffuse leptomeningeal melanocytosis	biolink:Disease	mondo	Orphanet:252031	ordo_disease	leptomeningeal melanomatosis|DLM	http://purl.obolibrary.org/obo/MONDO_0016745	Diffuse leptomeningeal melanocytosis is a rare tumor of meninges arising from leptomeningeal melanocytes, characterized by diffuse infiltration of the leptomeninges (pia mater and arachnoidea) anywhere in the central nervous system. Clinical features may include stillbirth, intracranial hypertension and hydrocephalus, seizure, ataxia, syringomyelia, cranial nerve palsy, intracranial haemorrhage, sphincter dysfunction and neuropsychiatric symptoms. Transformation into malignant melanoma of the central nervous system was reported. It may be associated with congenital nevi, as a part of neurocutaneous melanosis.	ORPHA:252031
MONDO:0016740	choriocarcinoma of the central nervous system	biolink:Disease	mondo	UMLS:CN201988|UMLS:C1332876|Orphanet:252015|NCIT:C7012	ordo_clinical_subtype	central nervous system choriocarcinoma (disease)|choriocarcinoma of the CNS|choriocarcinoma of CNS|central nervous system choriocarcinoma	http://purl.obolibrary.org/obo/MONDO_0016740	A malignant germ cell tumor of the central nervous system characterized by extra-embryonic differentiation along trophoblastic lines. The diagnosis requires the identification of cytotrophoblastic elements, as well as syncytiotrophoblastic giant cells. (WHO)	UMLS:CN201988|UMLS:C1332876|NCIT:C7012|ORPHA:252015
HGNC:8133	OLR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8133		
MONDO:0016741	obsolete teratoma of the central nervous system	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016741		
MONDO:0004749	myocardium cancer	biolink:Disease	mondo	DOID:9299|NCIT:C4569|UMLS:C0346611		malignant myocardial tumor|malignant tumor of myocardium|malignant myocardial neoplasm|malignant tumor of the myocardium|myocardium cancer|malignant neoplasm of the myocardium|tumor of myocardium|malignant myocardium neoplasm|malignant neoplasm of myocardium|cancer of myocardium	http://purl.obolibrary.org/obo/MONDO_0004749	A malignant neoplasm involving the myocardium.	DOID:9299|NCIT:C4569|UMLS:C0346611
MONDO:0002105	toxic megacolon	biolink:Disease	mondo	ICD10:K59.31|SCTID:28536002|ICD10:K59.3|MESH:D008532|UMLS:C0025162|DOID:1770|ICD9:564.7			http://purl.obolibrary.org/obo/MONDO_0002105	An acute form of megacolon, severe pathological dilatation of the colon. It is associated with clinical conditions such as ulcerative colitis; crohn disease; amebic dysentery; or clostridium enterocolitis.	DOID:1770|UMLS:C0025162|MESH:D008532|SNOMEDCT:28536002
MONDO:0004768	keratoconjunctivitis	biolink:Disease	mondo	NCIT:C34744|ICD9:370.8|MESH:D007637|ICD10:H16.20|COHD:380397|ICD9:370.40|SCTID:88151007|UMLS:C0022573|ICD9:370.49|DOID:9368|ICD10:H16.2			http://purl.obolibrary.org/obo/MONDO_0004768	Inflammation of both the cornea and the conjunctiva.	SNOMEDCT:88151007|NCIT:C34744|MESH:D007637|UMLS:C0022573|DOID:9368
MONDO:0004767	vesiculitis	biolink:Disease	mondo	DOID:9365|NCIT:C12787|UMLS:C0042588|COHD:200148|SCTID:27001009|ICD9:608.0|ICD10:N49.0		seminal vesicle|seminal vesicles|gland, seminal vesicle|seminal vesiculitis|seminal vesicle inflammation|inflammation of seminal vesicle|seminal Sacs	http://purl.obolibrary.org/obo/MONDO_0004767	An inflammatory disease involving a pathogenic inflammatory response in the seminal vesicle.	NCIT:C12787|SNOMEDCT:27001009|UMLS:C0042588|DOID:9365
MONDO:0002106	labyrinthine unilateral reactive loss	biolink:Disease	mondo	UMLS:C0155519|DOID:1776|ICD9:386.55		loss of labyrinthine reactivity, unilateral|unilateral loss of labyrinthine reactivity	http://purl.obolibrary.org/obo/MONDO_0002106		DOID:1776|UMLS:C0155519
MONDO:0002107	unilateral hyperactive labyrinth	biolink:Disease	mondo	DOID:1777|UMLS:C0155515|ICD9:386.51		hyperactive unilateral labyrinthine dysfunction|hyperactive labyrinth, unilateral	http://purl.obolibrary.org/obo/MONDO_0002107		DOID:1777|UMLS:C0155515
MONDO:0002108	thyroid cancer	biolink:Disease	mondo	ICD9:193|UMLS:CN221577|SCTID:363478007|NCIT:C7510|COHD:4178976|KEGG:05216|DOID:1781|ICD10:C73		malignant neoplasm of the thyroid gland|malignant neoplasm of the thyroid|malignant thyroid gland tumor|malignant neoplasm of thyroid gland|malignant thyroid gland neoplasm|malignant neoplasm of thyroid|malignant thyroid neoplasm|thyroid gland neoplasm|malignant thyroid tumor|thyroid gland cancer|malignant tumor of the thyroid gland|malignant tumour of thyroid gland|malignant tumor of thyroid gland|malignant tumor of the thyroid|malignant tumor of thyroid|cancer of thyroid gland|neoplasm of thyroid gland|thyroid neoplasm	http://purl.obolibrary.org/obo/MONDO_0002108	A malignant neoplasm involving the thyroid gland	UMLS:CN221577|DOID:1781|SNOMEDCT:363478007|NCIT:C7510
MONDO:0004769	orbital plasma cell granuloma	biolink:Disease	mondo	SCTID:80698001|MESH:D016727|ICD9:376.12|ICD10:H05.11|SCTID:72789009|COHD:433774|NCIT:C117296|DOID:9369		orbital inflammatory pseudotumors|pseudotumor of orbit|granuloma, plasma cell, orbital|orbital inflammatory pseudotumor|inflammatory pseudotumor, orbital|orbital granuloma, plasma cell|inflammatory pseudotumor of orbit|orbital myositis|pseudotumor, orbital|pseudotumor, inflammatory, orbital|pseudotumors, orbital|orbital pseudotumors|plasma cell granuloma, orbital|pseudotumor, orbital inflammatory|inflammatory pseudotumors, orbital	http://purl.obolibrary.org/obo/MONDO_0004769	A nonspecific tumor-like inflammatory lesion in the orbit of the eye. It is usually composed of mature lymphocytes; plasma cells; macrophages; leukocytes with varying degrees of fibrosis. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (orbital myositis) or inflammation of the lacrimal glands (dacryoadenitis).	DOID:9369|MESH:D016727|NCIT:C117296|SNOMEDCT:72789009|SNOMEDCT:80698001
MONDO:0004764	fibular collateral ligament bursitis	biolink:Disease	mondo	UMLS:C0158316|SCTID:77323000|ICD9:726.63|DOID:9358			http://purl.obolibrary.org/obo/MONDO_0004764		SNOMEDCT:77323000|UMLS:C0158316|DOID:9358
MONDO:0002101	facial nerve neoplasm	biolink:Disease	mondo	SCTID:126973004|ICD9:239.7|NCIT:C5827|DOID:1760|UMLS:C1263899		neoplasm of facial nerve|neoplasm of Facial nerve|neoplasm of the Facial nerve|seventh cranial nerve neoplasm|neoplasm of the seventh cranial nerve|neoplasm of seventh cranial nerve|seventh cranial nerve tumor|facial nerve neoplasms|facial nerve neoplasm|seventh cranial nerve tumors|tumor of facial nerve|facial nerve tumor|seventh cranial nerve neoplasms|facial nerve tumors|tumor of the Facial nerve|tumor of the seventh cranial nerve|tumor of Facial nerve|tumor of seventh cranial nerve|facial nerve neoplasm (disease)|VIIth cranial nerve neoplasms|VIIth cranial nerve tumors	http://purl.obolibrary.org/obo/MONDO_0002101	A neoplasm involving a facial nerve.	NCIT:C5827|UMLS:C1263899|SNOMEDCT:126973004|DOID:1760
MONDO:0002102	cheilitis	biolink:Disease	mondo	HP:0100825|SCTID:7847004|UMLS:C0007971|DOID:1762|MESH:D002613|NCIT:C79545|ICD10:K13.0		lip inflammation|inflammation of lip	http://purl.obolibrary.org/obo/MONDO_0002102	An inflammatory process affecting the lip.	DOID:1762|NCIT:C79545|MESH:D002613|SNOMEDCT:7847004|UMLS:C0007971
MONDO:0004763	carotid artery dissection	biolink:Disease	mondo	ICD9:443.21|SCTID:720626009|NCIT:C125662|DOID:9348|ICD10:I77.71|UMLS:C0338585		dissection of carotid artery	http://purl.obolibrary.org/obo/MONDO_0004763	Spontaneous or traumatic separation of the layers of the carotid artery wall. It manifests with headache, neck pain, temporary vision loss, and/or ischemic stroke.	UMLS:C0338585|DOID:9348|NCIT:C125662|SNOMEDCT:720626009
MONDO:0002103	factitious disorder	biolink:Disease	mondo	NCIT:C92198|ICD9:300.19|MESH:D009110|DOID:1766|ICD9:300.16|COHD:440984|ICD10:F68.11|SCTID:50705009		Munchausen syndrome	http://purl.obolibrary.org/obo/MONDO_0002103	A category of psychiatric disorders which are characterized by physical or psychological symptoms that are intentionally produced in order to assume the sick role; there is no external incentive for the behavior, such as economic gain or avoiding legal responsibility, and the person is unaware of any self-motivating factors.	DOID:1766|SNOMEDCT:50705009|MESH:D009110|NCIT:C92198
MONDO:0004766	status asthmaticus	biolink:Disease	mondo	UMLS:C0038218|ICD10:J46|DOID:9362|SCTID:708090002|EFO:0008590|NCIT:C122577|ICD9:493.91|MESH:D013224|COHD:45769438		asthma with status asthmaticus|severe asthma attack	http://purl.obolibrary.org/obo/MONDO_0004766	An acute exacerbation of asthma, characterized by inadequate response to initial bronchodilators.	NCIT:C122577|UMLS:C0038218|MESH:D013224|SNOMEDCT:708090002|DOID:9362
HGNC:8140	OPA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8140		
MONDO:0002104	conversion disorder	biolink:Disease	mondo	DOID:1768|MESH:D003291|GARD:0006191|ICD9:300.11|ICD10:F44	gard_rare	hysterical neurosis, conversion type|FND|conversion hysterical neurosis|functional neurological disorder|functional movement disorder|conversion hysteria or reaction	http://purl.obolibrary.org/obo/MONDO_0002104	Conversion disorder is a disorder in which a person experiences blindness, paralysis, or other symptoms affecting the nervous system that cannot be explained solely by a physical illness or injury. Symptoms usually begin suddenly after a period of emotional or physical distress or psychological conflict. Conversion disorder is thought to be caused by the bodys reaction to a stressful physical or emotional event. Some research has identified potential neurological changes that may be related to symptoms of the disorder. Diagnosis of conversion disorder is based on identifying particular signs that are common among people with the disorder, as well as performing tests to rule out other causes of the symptoms. Treatment may include psychotherapy, hypnosis, and stress management training to help reduce symptoms. Treatment of any underlying psychological disorder is also recommended. The affected body part may require physical or occupational therapy until symptoms resolve.	DOID:1768|MESH:D003291
MONDO:0004765	intrinsic asthma	biolink:Disease	mondo	SCTID:266361008|DOID:9360|ICD10:J45|ICD9:493.1|COHD:4145497|UMLS:C0155880			http://purl.obolibrary.org/obo/MONDO_0004765	An asthma that is triggered by factors not related to allergies such as anxiety, stress, exercise, cold air, dry air, hyperventilation, smoke, viruses, chemical irritants, autonomic imbalance, hormonal deficiencies and psychogenic influences. It is characterized by airway obstruction and inflammation that is at least partially reversible with medication. The symptoms include coughing, wheezing, shortness of breath or rapid breathing, and chest tightness.	SNOMEDCT:266361008|UMLS:C0155880|DOID:9360
MONDO:0004760	urethral false passage	biolink:Disease	mondo	ICD10:N36.5|ICD9:599.4|COHD:196465|SCTID:74944002|DOID:9339			http://purl.obolibrary.org/obo/MONDO_0004760		SNOMEDCT:74944002|DOID:9339
MONDO:0004762	Taylor syndrome	biolink:Disease	mondo	UMLS:C0152078|COHD:201347|SCTID:39402007|ICD9:625.5|DOID:9346		Taylor's syndrome|pelvic congestion syndrome|congestion-fibrosis syndrome	http://purl.obolibrary.org/obo/MONDO_0004762		SNOMEDCT:39402007|DOID:9346|UMLS:C0152078
MONDO:0004761	obsolete urethral diverticulum (disease)	biolink:Disease	mondo	ICD9:599.2|ICD10:N36.1|DOID:9341			http://purl.obolibrary.org/obo/MONDO_0004761		DOID:9341
MONDO:0002100	cardiovascular cancer	biolink:Disease	mondo	DOID:176|NCIT:C114940|UMLS:C3898472|UMLS:C0497243		cancer of cardiovascular system|malignant cardiovascular neoplasm|cardiovascular neoplasm|cardiovascular tumors|malignant neoplasm of cardiovascular system|malignant cardiovascular system neoplasm|cardiovascular system cancer	http://purl.obolibrary.org/obo/MONDO_0002100	A primary or metastatic malignant neoplasm involving the cardiovascular system.	DOID:176|UMLS:C3898472|NCIT:C114940|UMLS:C0497243
MONDO:0016728	obsolete cerebellar liponeurocytoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016728		
MONDO:0016729	mixed neuronal-glial tumor	biolink:Disease	mondo	UMLS:C0474844|Orphanet:251934|NCIT:C4747|UMLS:CN201977	ordo_group_of_disorders	neuronal and mixed neuronal-glial tumors|neuronal and Glio-neuronal tumor|neuronal and Glio-neuronal neoplasm|neuronal and mixed neuronal-glial tumor	http://purl.obolibrary.org/obo/MONDO_0016729	A group of central nervous system neoplasms with a variable amount of neuronal and, less consistently, glial differentiation. They occur at a low frequency and usually carry a favorable prognosis. Representative examples include dysplastic cerebellar gangliocytoma, desmoplastic infantile ganglioglioma, desmoplastic infantile astrocytoma, and dysembryoplastic neuroepithelial tumor. (Adapted from WHO)	UMLS:C0474844|ORPHA:251934|NCIT:C4747|UMLS:CN201977
MONDO:0016735	papillary glioneuronal tumor	biolink:Disease	mondo	ONCOTREE:PGNT|Orphanet:251962|NCIT:C92554|UMLS:C2985174|ICDO:9509/1	ordo_disease	pseudopapillary neurocytoma with glial differentiation|PGNT|pseudopapillary ganglioglioneurocytoma|papillary glioneuronal tumor (WHO grade I)	http://purl.obolibrary.org/obo/MONDO_0016735	A WHO grade I, indolent and relatively circumscribed brain tumor. Morphologically it is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae. In between the pseudopapillae aggregates of neurocytes, large neurons, and ganglioid cells are present.	UMLS:C2985174|ORPHA:251962|NCIT:C92554
MONDO:0016736	rosette-forming glioneuronal tumor of fourth ventricule	biolink:Disease	mondo	Orphanet:251975|UMLS:C4331262|UMLS:CN201984|NCIT:C129431	ordo_disease	DNT of the cerebellum|dysembryoplastic neuroepithelial tumor of cerebellum|RGNT|rosette-forming glioneuronal tumor	http://purl.obolibrary.org/obo/MONDO_0016736	A central nervous system neoplasm mostly occurring in the fourth ventricle region. It is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. Cytologic atypia is minimal.	ORPHA:251975|NCIT:C129431|UMLS:CN201984|UMLS:C4331262
HGNC:8149	OPLAH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8149		
UBERON:0001383	muscle of leg	biolink:AnatomicalEntity	mondo			leg muscle|muscle organ of leg|muscle of upper or lower hindlimb segment|leg skeletal muscle tissue|skeletal muscle of leg|muscle of upper/lower leg|muscle of hindlimb zeugopod or stylopod|muscle of thigh or crus|leg skeletal muscle|leg muscle organ	http://purl.obolibrary.org/obo/UBERON_0001383	A muscle that is part of the region of the hindlimb between the pelvis and ankle.	
MONDO:0016737	obsolete ganglioneuroma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016737		
HGNC:18806	CAMTA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18806		
MONDO:0016738	primary germ cell tumor of central nervous system	biolink:Disease	mondo	UMLS:CN201986|Orphanet:251995	ordo_group_of_disorders	primary germ cell tumor of CNS	http://purl.obolibrary.org/obo/MONDO_0016738		ORPHA:251995|UMLS:CN201986
MONDO:0016731	desmoplastic infantile astrocytoma/ganglioglioma	biolink:Disease	mondo	UMLS:CN201979|Orphanet:251940	ordo_disease	DIA/DIG	http://purl.obolibrary.org/obo/MONDO_0016731	Desmoplastic infantile astrocytoma/ganglioglioma are mixed neuronal-glial tumors representing a histological spectrum of the same tumor. They are usually supratentorially located, large, cystic masses with a peripheral solid component, characterized by prominent desmoplastic stroma and pleomorphic populations of neoplastic cells with either astrocytic or ganglionic differentiation and poorly differentiated cells in variable proportions. They usually present in the first 18 months of age with rapid head growth, bulging anterior fontanel and bone structures over the tumor, signs of raised intracranial pressure (headache, vomiting, papilledema), focal neurological signs and sometimes seizures.	ORPHA:251940|UMLS:CN201979
MONDO:0016732	obsolete dysembryoplastic neuroepithelial tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016732		
MONDO:0016733	ganglioglioma	biolink:Disease	mondo	DOID:5078|ONCOTREE:GNG|NCIT:C3788|EFO:0003094|MedDRA:10017701|SCTID:87191000119100|MESH:D018303|UMLS:C0206716|ICDO:9505/1|Orphanet:251949|GARD:0002430	ordo_disease|gard_rare	adult ganglioglioma|childhood ganglioglioma|CNS ganglioglioma|ganglioglioma|mixed cell tumors containing both neural ganglionic cells and neural glial cell components	http://purl.obolibrary.org/obo/MONDO_0016733	A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. (Adapted from WHO)	ORPHA:251949|NCIT:C3788|DOID:5078|SNOMEDCT:87191000119100|UMLS:C0206716|MEDDRA:10017701|MESH:D018303
HGNC:18801	POGZ	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18801		
MONDO:0016734	anaplastic ganglioglioma	biolink:Disease	mondo	Orphanet:251957|ONCOTREE:AGNG|ICDO:9505/3|GARD:0010639|UMLS:C0431112|NCIT:C4717	ordo_disease|gard_rare	AGNG	http://purl.obolibrary.org/obo/MONDO_0016734	A WHO grade III neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and anaplastic glial cells. The anaplastic changes in the glial component and high MIB-1 and TP53 labeling indices may indicate aggressive behavior. However, the correlation of histological anaplasia with clinical outcome is inconsistent. (Adapted from WHO)	ORPHA:251957|NCIT:C4717|UMLS:C0431112
HGNC:18802	ATPAF2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18802		
HGNC:8142	OPA3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8142		
NCBITaxon:35789	Rickettsia helvetica	organism taxon	mondo	GC_ID:11|PMID:8102245			http://purl.obolibrary.org/obo/NCBITaxon_35789		
MONDO:0016730	gangliocytoma	biolink:Disease	mondo	GARD:0010638|UMLS:CN201978|NCIT:C6934|ONCOTREE:GNC|DOID:2426|ICD10:D36.1|MESH:D005729|ICDO:9492/0|Orphanet:251937	gard_rare|ordo_disease	GNC	http://purl.obolibrary.org/obo/MONDO_0016730	A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells.	MESH:D005729|ORPHA:251937|UMLS:CN201978|DOID:2426|NCIT:C6934
NCBITaxon:35788	Rickettsia africae	organism taxon	mondo	GC_ID:11|PMID:8934912|PMID:7902843			http://purl.obolibrary.org/obo/NCBITaxon_35788		
HGNC:8143	OPCML	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8143		
UBERON:0001384	primary motor cortex	biolink:AnatomicalEntity	mondo			somatic motor areas|motor area|excitable area|primary motor area|motor cortex|somatomotor areas|prefrontal gyrus|gyrus precentralis|Rolando's area	http://purl.obolibrary.org/obo/UBERON_0001384	The part of the cerebral cortex that receives projections from the motor thalamus and which projects to motor neurons in the brainstem and spinal cord. The motor cortex corresponds to Brodmann's area 4 (MM). The primary motor cortex, or M1, is located on the precentral gyrus and on the anterior paracentral lobule on the medial surface of the brain. Of the three motor cortex areas, stimulation of the primary motor cortex requires the least amount of electrical current to elicit a movement. http://neuroscience.uth.tmc.edu/s3/chapter03.html	
HGNC:8148	OPHN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8148		
MONDO:0004735	obsolete Alagille syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004735		
MONDO:0004734	obsolete erythromelalgia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004734		
MONDO:0004737	homocystinuria (disease)	biolink:Disease	mondo	GARD:0010770|HP:0002156|UMLS:C0019880|NCIT:C84765|SCTID:11282001|DOID:9263|ICD10:E72.11		cystathionine beta synthase deficiency|cystathionine synthase deficiency|homocystinuria|CBS deficiency	http://purl.obolibrary.org/obo/MONDO_0004737	An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems.	SNOMEDCT:11282001|UMLS:C0019880|DOID:9263|NCIT:C84765
MONDO:0004736	inherited amino acid metabolic disorder	biolink:Disease	mondo	SCTID:42930003|MESH:D000592|ICD9:270|GARD:0006770|DOID:9252|ICD9:270.9|ICD10:E72.9		rare inborn error of cellular amino acid metabolic process|inborn errors of amino acid metabolism|inborn error of amino acid metabolism|inborn cellular amino acid metabolic process disorder|inborn amino acid metabolism disorder|amino acid metabolism, inborn errors|rare inborn error of cellular amino acid metabolic process|amino acid metabolic disorder|inborn error of cellular amino acid metabolic process	http://purl.obolibrary.org/obo/MONDO_0004736	An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.	DOID:9252|SNOMEDCT:42930003|MESH:D000592
MONDO:0004731	central sleep apnea syndrome	biolink:Disease	mondo	MESH:D020182|ICD10:G47.31|SCTID:27405005|DOID:9220|ICD9:327.21|NCIT:C27169|UMLS:C3887547		central sleep-disordered breathing|central sleep-disordered Breathings|central sleep apnea, primary|central alveolar hypoventilation syndrome|sleep Apneas, central|central apnea|Apneas, central sleep|central alveolar hypoventilation|hypoventilations, central alveolar|apnea, central sleep|primary central sleep apnea|alveolar hypoventilation, central|central sleep Apneas|central sleep apnea syndrome|sleep-disordered breathing, central|Apneas, central|apnea, sleep, central|central sleep apnea, secondary|sleep disordered breathing, central|central sleep apnea|ondine syndrome|apnea, central|breathing, central sleep-disordered|Breathings, central sleep-disordered|central sleep disordered breathing|sleep-disordered Breathings, central|secondary central sleep apnea|hypoventilation, central alveolar|sleep apnea, lethal central|central Apneas|alveolar hypoventilations, central	http://purl.obolibrary.org/obo/MONDO_0004731	A broad classification of disorders which includes 6 subtypes (primary central sleep apnea, central sleep apnea due to Cheyne-Stokes breathing pattern, central sleep apnea due to medical condition not Cheyne-Stokes, central sleep apnea due to high-altitude periodic breathing, central sleep apnea due to drug or substance and primary sleep apnea of infancy) that are each characterized by interruptions in breathing while asleep. It is caused by improper signaling from the brainstem to respiratory muscles and is triggered by either hypoventilation or hyperventilation. In adults, this disorder may arise following a stroke, congestive heart failure, trauma, infection or the use of narcotic medications. It is more common in older males and may present as a co-morbid condition to obesity. Clinical signs include snoring, insomnia or hypersomnia, difficulty concentrating and fatigue. Recurrent episodes of hypoxia/hypoxemia have long-term detrimental effects on cardiovascular health.	DOID:9220|MESH:D020182|UMLS:C3887547|SNOMEDCT:27405005|NCIT:C27169
GO:1901505	carbohydrate derivative transmembrane transporter activity	biolink:OntologyClass	mondo			carbohydrate derivative transporter activity	http://purl.obolibrary.org/obo/GO_1901505	Enables the transfer of carbohydrate derivative from one side of a membrane to the other.	
MONDO:0004730	speech disorder	biolink:Disease	mondo	MESH:D013064|NCIT:C5041|DOID:92|ICD9:784.49|UMLS:C0037822|SCTID:47004009|ICD9:784.40		speech impediment or impairment	http://purl.obolibrary.org/obo/MONDO_0004730	A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders.	DOID:92|MESH:D013064|SNOMEDCT:47004009|UMLS:C0037822|NCIT:C5041
CHEBI:24745	hydroxypyridine	biolink:ChemicalSubstance	mondo			hydroxypyridines	http://purl.obolibrary.org/obo/CHEBI_24745	Any member of the class of pyridines with at least one hydroxy substituent.	
MONDO:0004733	pyriform sinus cancer	biolink:Disease	mondo	ICD10:C12|SCTID:363401000|DOID:9235|UMLS:C0153400|ICD9:148.1|NCIT:C3531		malignant tumor of pyriform fossa|malignant tumor of the pyriform fossa|malignant tumor of pyriform sinus|malignant tumor of the pyriform sinus|malignant neoplasm of pyriform fossa|malignant pyriform sinus neoplasm|malignant pyriform fossa tumor|malignant neoplasm of pyriform sinus|malignant pyriform fossa neoplasm|malignant neoplasm of the pyriform sinus|malignant pyriform sinus tumor|malignant neoplasm of the pyriform fossa	http://purl.obolibrary.org/obo/MONDO_0004733	A primary or metastatic malignant neoplasm that affects the pyriform sinus.	DOID:9235|UMLS:C0153400|SNOMEDCT:363401000|NCIT:C3531
GO:1901503	ether biosynthetic process	biolink:OntologyClass	mondo			ether formation|ether biosynthesis|ether anabolism|ether synthesis	http://purl.obolibrary.org/obo/GO_1901503	The chemical reactions and pathways resulting in the formation of ether.	
MONDO:0004732	kidney carcinoma in situ	biolink:Disease	mondo	UMLS:C0686172|DOID:9234|ICD9:233.9|SCTID:92624000|ICD10:D09.1		stage 0 kidney carcinoma|kidney in situ carcinoma|carcinoma in situ of kidney	http://purl.obolibrary.org/obo/MONDO_0004732	A carcinoma in situ involving a kidney.	DOID:9234|UMLS:C0686172|SNOMEDCT:92624000
MONDO:0016717	choroid plexus neoplasm	biolink:Disease	mondo	SCTID:254942002|UMLS:C0085138|Orphanet:251896|NCIT:C3473|ONCOTREE:CPT	ordo_group_of_disorders	tumor of choroid plexus|tumor of the choroid plexus|choroid plexus neoplasm|neoplasm of choroid plexus|choroid plexus tumor|neoplasm of the choroid plexus	http://purl.obolibrary.org/obo/MONDO_0016717	An intraventricular papillary neoplasm that originates from the choroid plexus epithelium. It includes the choroid plexus papilloma, atypical choroid plexus papilloma, and choroid plexus carcinoma.	ORPHA:251896|NCIT:C3473|UMLS:C0085138|SNOMEDCT:254942002
MONDO:0016718	choroid plexus carcinoma	biolink:Disease	mondo	MESH:C562943|GARD:0008238|ONCOTREE:CPC|ICDO:9390/3|ICD10:C71.7|Orphanet:251899|MedDRA:10067478|SCTID:188292007|DOID:5648|NCIT:C4715	ordo_disease	carcinoma, choroid plexus, malignant|choroid plexus carcinoma|anaplastic choroid plexus papilloma|cancer of choroid plexus|choroid plexus carcinoma (morphologic abnormality)|malignant neoplasm of choroid plexus|choroid plexus cancer|malignant tumor of choroid plexus|malignant neoplasm of the choroid plexus|cancer of the choroid plexus|carcinoma of choroid plexus|carcinoma of the choroid plexus	http://purl.obolibrary.org/obo/MONDO_0016718	A malignant neoplasm arising from the choroid plexus. It shows anaplastic features and usually invades neighboring brain structures. Cerebrospinal fluid metastases are frequent. (Adapted from WHO)	SNOMEDCT:188292007|UMLS:C0431109|ORPHA:251899|MESH:C562943|NCIT:C4715|MEDDRA:10067478|DOID:5648
MONDO:0016719	microcephaly-seizures-intellectual disability-heart disease syndrome	biolink:Disease	mondo	UMLS:C2931529|GARD:0003632|Orphanet:2519|ICD10:Q87.8|MESH:C537544	ordo_malformation_syndrome	microcephaly seizures intellectual disability heart disorders|microcephaly, seizures, intellectual disability, congenital heart disease, and skeletal abnormalities|microcephaly seizures mental retardation heart disorders|microcephaly, seizures, mental retardation, congenital heart disease, and skeletal abnormalities	http://purl.obolibrary.org/obo/MONDO_0016719	Microcephaly-seizures-intellectual disability-heart disease syndrome is characterised by intellectual deficit, a cardiac anomaly, micropenis, hypothyroidism, epileptic seizures, and skeletal anomalies. It has been described in two males.	MESH:C537544|UMLS:C2931529|ORPHA:2519
MONDO:0016724	papillary tumor of the pineal region	biolink:Disease	mondo	Orphanet:251915|ICDO:9395/3|ICD10:D44.5|UMLS:C2985219|NCIT:C92624|ONCOTREE:PTPR|EFO:1000451	ordo_disease	PTPR	http://purl.obolibrary.org/obo/MONDO_0016724	Papillary tumor of the pineal region (PTPR) is a very rare neoplasm of the pineal region that is thought to arise from the specialized ependymocytes of the subcommissural organ and that manifests with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus.	UMLS:C2985219|ORPHA:251915|NCIT:C92624
MONDO:0016725	pineal parenchymal tumor of intermediate differenciation	biolink:Disease	mondo	UMLS:CN201973|Orphanet:251919|ICD10:D44.5	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016725	Pineal parenchymal tumor of intermediate differentiation (PPTID) describes a rare type of pineal parenchymal tumor (PPT) of intermediate-grade malignancy manifesting with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus, and that is classified as either grade II PPTID or grade III PPTID according to the degree of neuronal differentiation and mitotic activity.	ORPHA:251919|UMLS:CN201973
MONDO:0016726	neuronal tumor	biolink:Disease	mondo	Orphanet:251924|UMLS:CN201974	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016726		ORPHA:251924|UMLS:CN201974
MONDO:0016727	extraventricular neurocytoma	biolink:Disease	mondo	Orphanet:251927|UMLS:C2985175|ICDO:9506/1|SCTID:716787002|ONCOTREE:EVN|UMLS:CN201975|NCIT:C92555	ordo_disease	EVN|extraventricular neurocytoma (WHO grade II)	http://purl.obolibrary.org/obo/MONDO_0016727	Extraventricular neurocytoma (EVN), a variant of central neurocytoma, is a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behavior.	UMLS:C2985175|ORPHA:251927|SNOMEDCT:716787002|UMLS:CN201975|NCIT:C92555
MONDO:0016720	obsolete atypical papilloma of choroid plexus	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016720		
MONDO:0016721	pineal tumor of neuroepithelial tissue	biolink:Disease	mondo	UMLS:CN201969|Orphanet:251905	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016721		ORPHA:251905|UMLS:CN201969
MONDO:0016722	pineoblastoma	biolink:Disease	mondo	MedDRA:10050487|GARD:0009369|DOID:1664|ICD10:C75.3|NCIT:C9344|ONCOTREE:PBL|EFO:1000475|Orphanet:251909|UMLS:C0205898|ICDO:9362/3	gard_rare|ordo_disease	pineal primitive neuroectodermal tumor|primitive neuroectodermal neoplasm of pineal gland|primitive neuroectodermal neoplasm of the pineal gland|pineoblastoma|pineal primitive neuroectodermal neoplasm|pineal gland primitive neuroectodermal neoplasm|primitive neuroectodermal tumor of pineal gland|primitive neuroectodermal tumor of the pineal gland|PNET of pineal gland|pineal PNET|PNET of the pineal gland|pineoblastoma, malignant|pineal gland PNET|pineoblastoma (WHO grade IV)|pineal gland primitive neuroectodermal tumor	http://purl.obolibrary.org/obo/MONDO_0016722	Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis.	UMLS:C0205898|DOID:1664|ORPHA:251909|NCIT:C9344|MEDDRA:10050487
MONDO:0016723	pineocytoma (disease)	biolink:Disease	mondo	ICD10:D44.5|ONCOTREE:PINC|SCTID:255045009|UMLS:C0917890|Orphanet:251912|HP:0030407|MedDRA:10035059|ICDO:9361/1|EFO:1000476|NCIT:C6966|GARD:0008207	ordo_disease	pineocytoma|benign pinealoma|pineocytoma, benign|pinealocytoma|Pineocytoma (WHO grade I)	http://purl.obolibrary.org/obo/MONDO_0016723	Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis.	NCIT:C6966|ORPHA:251912|MEDDRA:10035059|SNOMEDCT:255045009|UMLS:C0917890
OIO:hasOBOFormatVersion	has_obo_format_version	biolink:OntologyClass	mondo				http://www.geneontology.org/formats/oboInOwl#hasOBOFormatVersion		
MONDO:0004728	diabetic macular edema	biolink:Disease	mondo	UMLS:C0730285|COHD:380097|DOID:9191|SCTID:312912001|ICD9:362.07			http://purl.obolibrary.org/obo/MONDO_0004728		SNOMEDCT:312912001|DOID:9191|UMLS:C0730285
HGNC:8157	SIGMAR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8157		
MONDO:0004727	vestibule of mouth cancer	biolink:Disease	mondo	UMLS:C0153374|COHD:4090226|SCTID:187658004|DOID:9188|ICD9:145.1|ICD10:C06.1		malignant neoplasm of oral opening|malignant neoplasm of vestibule of mouth|oral opening cancer|malignant oral opening neoplasm|malignant tumor of vestibule of mouth|cancer of oral opening	http://purl.obolibrary.org/obo/MONDO_0004727	A cancer that involves the oral opening.	DOID:9188|UMLS:C0153374|SNOMEDCT:187658004
MONDO:0004729	dyskinesia of esophagus	biolink:Disease	mondo	ICD10:K22.4|DOID:9192|UMLS:C0014858|ICD9:530.5|SCTID:266434009|EFO:1001785|MESH:D015154		esophageal motility disorder|dyskinesia of oesophagus|oesophageal motor disorder|esophageal dysmotility|oesophageal dysmotility	http://purl.obolibrary.org/obo/MONDO_0004729	Disorders affecting the motor function of the upper esophageal sphincter; lower esophageal sphincter; the esophagus body, or a combination of these parts. The failure of the sphincters to maintain a tonic pressure may result in gastric reflux of food and acid into the esophagus (gastroesophageal reflux). Other disorders include hypermotility (spastic disorders) and markedly increased amplitude in contraction (nutcracker esophagus).	UMLS:C0014858|DOID:9192|MESH:D015154|SNOMEDCT:266434009
MONDO:0004746	myopathy of extraocular muscle	biolink:Disease	mondo	ICD9:376.82|SCTID:57130002|DOID:929|ICD10:H05.82|UMLS:C0155286		myopathy of extraocular muscles|myopathy of extra-ocular muscle|extra-ocular muscle myopathy	http://purl.obolibrary.org/obo/MONDO_0004746	A myopathy that involves the extra-ocular muscle.	DOID:929|SNOMEDCT:57130002|UMLS:C0155286
MONDO:0004745	priapism	biolink:Disease	mondo	ICD10:N48.3|SCTID:6273006|COHD:315586|DOID:9286|MESH:D011317|UMLS:C0033117|ICD9:607.3|ICD10:N48.30|Orphanet:140949		Mentulagra	http://purl.obolibrary.org/obo/MONDO_0004745	Persistent and usually painful erection that lasts for at least four hours in the absence of physical or psychological stimulation, which can be caused by hematologic disorders, including sickle cell disease and leukemia, spinal cord injuries, and medications.	DOID:9286|UMLS:C0033117|SNOMEDCT:6273006|ORPHA:140949|MESH:D011317|NCIT:C85022
MONDO:0004748	lip disease	biolink:Disease	mondo	UMLS:C0023760|SCTID:90678009|MESH:D008047|NCIT:C26818|ICD10:K13.0|DOID:9297|ICD9:528.5		lip disorder|disease of lip|lip disease or disorder|disease of lips|disorder of lip|disorder of lip|lip disease|disease or disorder of lip	http://purl.obolibrary.org/obo/MONDO_0004748	A disease involving the lip.	UMLS:C0023760|DOID:9297|NCIT:C26818|MESH:D008047|SNOMEDCT:90678009
MONDO:0004747	cleft lip (disease)	biolink:Disease	mondo	MESH:D002971|ICD9:749.1|NCIT:C87175|ICD10:Q36|ICD9:749.10|ICD10:Q36.9|ICD9:749.11|SCTID:80281008|DOID:9296|EFO:0003959|HP:0410030|COHD:133861		hare lip|labium leporinum|cheiloschisis|cleft lip, unilateral, complete|cleft lip|complete unilateral cleft lip	http://purl.obolibrary.org/obo/MONDO_0004747	A congenital abnormality consisting of one or more clefts (splits) in the upper lip, which may be accompanied by a cleft palate; it is the result of the failure of the embryonic parts of the lip to fuse.	SNOMEDCT:80281008|DOID:9296|MESH:D002971|NCIT:C87175
MONDO:0004742	primary cerebellar degeneration	biolink:Disease	mondo	ICD9:334.2|DOID:9277|COHD:436391|UMLS:C0033132|SCTID:23732000			http://purl.obolibrary.org/obo/MONDO_0004742	A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked.	DOID:9277|UMLS:C0033132|SNOMEDCT:23732000
MONDO:0004741	tyrosinemia	biolink:Disease	mondo	OMIMPS:276700|DOID:9275|ICD10:E70.21|SCTID:190694001|UMLS:C0268483|ICD9:270.2|NCIT:C98640|MESH:D020176			http://purl.obolibrary.org/obo/MONDO_0004741	An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs.	MESH:D020176|UMLS:C0268483|SNOMEDCT:190694001|DOID:9275|NCIT:C98640
UBERON:0001359	cerebrospinal fluid	biolink:AnatomicalEntity	mondo			cerebral spinal fluid|CSF|spinal fluid|liquor cerebrospinalis	http://purl.obolibrary.org/obo/UBERON_0001359	A clear, colorless, bodily fluid, that occupies the subarachnoid space and the ventricular system around and inside the brain and spinal cord.	
MONDO:0004744	borderline glaucoma	biolink:Disease	mondo	SCTID:193531003|ICD9:365.00|COHD:4102183|ICD10:H40.00|DOID:9283|UMLS:C1533674		Preglaucoma	http://purl.obolibrary.org/obo/MONDO_0004744		DOID:9283|SNOMEDCT:193531003|UMLS:C1533674
MONDO:0004743	hyperhomocysteinemia	biolink:Disease	mondo	DOID:9279|SCTID:419503008|UMLS:C0598608|MESH:D020138|NCIT:C84770			http://purl.obolibrary.org/obo/MONDO_0004743	A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents.	DOID:9279|SNOMEDCT:419503008|MESH:D020138|NCIT:C84770|UMLS:C0598608
MONDO:0004740	obsolete hyperlysinemia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004740		
MONDO:0016706	chordoid glioma of the third ventricle	biolink:Disease	mondo	DOID:3774|UMLS:C1322252|DOID:3773|ICD10:C71.9|NCIT:C5592|GARD:0010636|ONCOTREE:CHGL|SCTID:715900001|ICDO:9444/1|Orphanet:251674	ordo_disease|gard_rare	chordoid glioma|chordoid glioma of the 3rd ventricle|third ventricle chordoid glioma|chordoid glioma of third ventricle|chordoid glioma of the third ventricle (WHO grade II)|chordoid glioma of the third ventricle|chordoid glioma of 3rd ventricle|chordoid glioma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0016706	A rare, slow-growing neuroepithelial neoplasm of uncertain origin affecting adults. It is located in the third ventricle. It is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates.	DOID:3774|DOID:3773|ORPHA:251674|NCIT:C5592|UMLS:C1322252|SNOMEDCT:715900001
MONDO:0016707	astroblastoma	biolink:Disease	mondo	DOID:7305|ICD10:C71.9|ONCOTREE:ASTB|UMLS:C0334587|ICDO:9430/3|Orphanet:251679|NCIT:C4324|GARD:0010635	ordo_disease|gard_rare	cerebral astroblastoma|AstB|astroblastoma (morphologic abnormality)|astroblastoma	http://purl.obolibrary.org/obo/MONDO_0016707	Astroblastoma is a very rare glial neoplasm of the central nervous system, most often with an intra-axial peripheral supratentorial location in one hemisphere of the frontal or parietal lobes and usually presenting in infants and young adults with symptoms of vomiting, loss of consciousness, epileptic seizures and headaches.	ORPHA:251679|NCIT:C4324|UMLS:C0334587|DOID:7305
MONDO:0016708	embryonal tumor of neuroepithelial tissue	biolink:Disease	mondo	UMLS:CN201955|Orphanet:251852	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016708		UMLS:CN201955|ORPHA:251852
MONDO:0016709	anaplastic/large cell medulloblastoma	biolink:Disease	mondo	ONCOTREE:AMBL|ICD10:C71.6|UMLS:C4330531|Orphanet:251855|NCIT:C129436	ordo_histopathological_subtype	large cell/anaplastic medulloblastoma	http://purl.obolibrary.org/obo/MONDO_0016709	A medulloblastoma composed of sheets of large cells mixed with cells characterized by marked nuclear pleomorphism and high mitotic activity.	NCIT:C129436|UMLS:C4330531|ORPHA:251855
MONDO:0016713	central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor	biolink:Disease	mondo	MedDRA:10057846|NCIT:C129537|Orphanet:251870	ordo_group_of_disorders	CNS PNET|central nervous system PNET|central nervous system primitive neuroectodermal tumor|central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor	http://purl.obolibrary.org/obo/MONDO_0016713	A rare Ewing sarcoma/peripheral primitive neuroectodermal tumor that affects the central nervous system either as a primary dural neoplasm or by direct extension from adjacent soft tissues or bone.	MEDDRA:10057846|ORPHA:251870|NCIT:C129537|UMLS:C0206663
MONDO:0016714	obsolete ganglioneuroblastoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016714		
MONDO:0016715	ependymoblastoma	biolink:Disease	mondo	Orphanet:251880|NCIT:C4915|ICD10:C71.9|DOID:4794|MedDRA:10014966|GARD:0006352|ONCOTREE:ETANTR|UMLS:C0700367|SCTID:715901002	ordo_disease	embryonal tumor with abundant neuropil and true rosettes|embryonal tumor with abundant neuropil and true Rosettes|ETANTR|embryonal tumor with Multilayered Rosettes with C19MC amplification|ependymoblastoma|ETMR|embryonal tumor with Multilayered Rosettes, C19MC-altered|neuroectodermal tumors primitive|embryonal tumor with Multilayered Rosettes|ETMR, C19MC-altered	http://purl.obolibrary.org/obo/MONDO_0016715	Ependymoblastoma is a rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis.	DOID:4794|ORPHA:251880|MEDDRA:10014966|UMLS:C0700367|NCIT:C4915|SNOMEDCT:715901002
UBERON:0001361	femoral vein	biolink:AnatomicalEntity	mondo			vena femoralis	http://purl.obolibrary.org/obo/UBERON_0001361	In the human body, the femoral vein is a blood vessel that accompanies the femoral artery in the femoral sheath. It begins at the adductor canal (also known as Hunter's canal) and is a continuation of the popliteal vein. It ends at the inferior margin of the inguinal ligament, where it becomes the external iliac vein. [WP,unvetted].	
MONDO:0016716	obsolete medulloepithelioma of the central nervous system	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016716		
MONDO:0016710	medulloblastoma with extensive nodularity	biolink:Disease	mondo	Orphanet:251858|ONCOTREE:MBEN|NCIT:C5407|UMLS:CN201957|ICD10:C71.6|ICDO:9471/3|UMLS:C1334970	ordo_histopathological_subtype	medulloblastoma with extensive nodularity and advanced neuronal differentiation|MBEN|medulloblastoma with extensive nodularity|cerebellar neuroblastoma|nodular medulloblastoma	http://purl.obolibrary.org/obo/MONDO_0016710	Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma, an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome and has a relatively good prognosis.	NCIT:C5407|ORPHA:251858|UMLS:C1334970|UMLS:CN201957
MONDO:0016711	desmoplastic/nodular medulloblastoma	biolink:Disease	mondo	UMLS:C0751291|NCIT:C4956|Orphanet:251863|ICDO:9471/3|ICD10:C71.6|ONCOTREE:DMBL	ordo_histopathological_subtype	Desmoplastic/nodular medulloblastoma|Desmoplastic nodular medulloblastoma|Desmoplastic medulloblastoma	http://purl.obolibrary.org/obo/MONDO_0016711	Desmoplastic/nodular medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache.	ORPHA:251863|NCIT:C4956|UMLS:C0751291
MONDO:0016712	classic medulloblastoma	biolink:Disease	mondo	SCTID:699704002|UMLS:C1707400|NCIT:C54039|ICD10:C71.6|Orphanet:251867	ordo_histopathological_subtype	classic medulloblastoma	http://purl.obolibrary.org/obo/MONDO_0016712	Classic medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia.	NCIT:C54039|ORPHA:251867|SNOMEDCT:699704002|UMLS:C1707400
CHEBI:48706	antagonist	biolink:ChemicalSubstance	mondo			antagoniste|antagonists|antagonista|antagonist	http://purl.obolibrary.org/obo/CHEBI_48706	Substance that attaches to and blocks cell receptors that normally bind naturally occurring substances.	
GO:0060405	regulation of penile erection	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060405	Any process that modulates the rate, frequency or extent of penile erection. Penile erection is the hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow.	
CHEBI:48705	agonist	biolink:ChemicalSubstance	mondo			agoniste|agonists|agonista|agonist	http://purl.obolibrary.org/obo/CHEBI_48705	Substance which binds to cell receptors normally responding to naturally occurring substances and which produces a response of its own.	
UBERON:0001366	parietal peritoneum	biolink:AnatomicalEntity	mondo			parietal serous membrane of peritoneum|peritoneal cavity lining	http://purl.obolibrary.org/obo/UBERON_0001366	The outer layer of peritoneum that is attached to the abdominal and pelvic walls.	
GO:0060406	positive regulation of penile erection	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060406	Any process that increases the rate, frequency or extent of penile erection. Penile erection is the hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow.	
GO:0060407	negative regulation of penile erection	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060407	Any process that stops, prevents, or reduces the rate, frequency or extent of penile erection. Penile erection is the hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow.	
MONDO:0004739	urea cycle disorder	biolink:Disease	mondo	UMLS:C0154246|MESH:D056806|COHD:434311|ICD10:E72.2|DOID:9267|NCIT:C84785|Orphanet:79167|GARD:0007837|SCTID:36444000|ICD10:E72.20|ICD9:270.6	ordo_group_of_disorders	disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia|urea cycle disorders|urea cycle metabolism disorder|inborn disorder of urea cycle metabolism and ammonia detoxification|disorder of urea cycle metabolism|urea cycle defect|disorder of urea cycle metabolism and ammonia detoxification|UCD|inborn urea cycle disorder	http://purl.obolibrary.org/obo/MONDO_0004739	A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.	ORPHA:79167|UMLS:C0154246|DOID:9267|SNOMEDCT:36444000|NCIT:C84785|MESH:D056806
MONDO:0004738	histidine metabolism disease	biolink:Disease	mondo	SCTID:44176004|UMLS:C0268512		disturbance of histidine metabolism|disorder of histidine metabolic process|disorder of histidine metabolic process|histidine metabolic process disease|disorder of histidine metabolism	http://purl.obolibrary.org/obo/MONDO_0004738	A disease that has its basis in the disruption of histidine metabolic process.	SNOMEDCT:44176004|UMLS:C0268512
UBERON:0001365	sacro-iliac joint	biolink:AnatomicalEntity	mondo			articulatio sacro-iliaca|sacroiliac joint	http://purl.obolibrary.org/obo/UBERON_0001365	The joint in the bony pelvis between the sacrum and the ilium of the pelvis, which are joined by strong ligaments.	
MONDO:0002138	allergic contact dermatitis of eyelid	biolink:Disease	mondo	ICD9:373.32|DOID:1895|SCTID:402249007|UMLS:C0155178|ICD9:692.9		eyelid allergic contact dermatitis|contact and allergic dermatitis of eyelid	http://purl.obolibrary.org/obo/MONDO_0002138	A allergic contact dermatitis that involves the eyelid.	SNOMEDCT:402249007|UMLS:C0155178|DOID:1895
MONDO:0002139	sigmoid disease	biolink:Disease	mondo	DOID:1897|UMLS:C0037072|MESH:D012810			http://purl.obolibrary.org/obo/MONDO_0002139	Pathological processes in the sigmoid colon region of the large intestine (intestine, large).	UMLS:C0037072|MESH:D012810|DOID:1897
MONDO:0002134	physiological sexual disorder	biolink:Disease	mondo	MESH:D012735|UMLS:C0549622|ICD10:R37|ICD10:F52.9|DOID:1876		physiological sexual dysfunctions|physiological sexual dysfunction|Sex disorders|sexual disorders, physiological|sexual dysfunction|physiological sexual disorder|physiological sexual disorders|sexual dysfunctions, physiological|sexual disorder, physiological	http://purl.obolibrary.org/obo/MONDO_0002134	Physiological disturbances in normal sexual performance in either the male or the female.	UMLS:C0549622|MESH:D012735|DOID:1876|NCIT:C3347
MONDO:0004797	mononeuritis of lower limb	biolink:Disease	mondo	ICD9:355|ICD9:355.8|DOID:9473		hindlimb mononeuritis simplex|mononeuritis simplex of hindlimb	http://purl.obolibrary.org/obo/MONDO_0004797	A mononeuritis simplex that involves the hindlimb.	DOID:9473
MONDO:0004796	infectious meningitis	biolink:Disease	mondo	ICD10:G03|DOID:9471|EFO:0000584|ICD9:322|ICD10:G03.9|ICD9:321.8|MESH:D008581|NCIT:C79598|HP:0001287|ICD9:322.9|SCTID:312216007		infectious meningitis|infective meningitis|meningitis	http://purl.obolibrary.org/obo/MONDO_0004796	Inflammation of the meninges of the brain and/or spinal cord caused by an infectious agent (viral, bacterial, or fungal). Symptoms include headache, fever, vomiting, neck stiffness, photophobia, confusion, and seizures.	MESH:D008581|SNOMEDCT:312216007|DOID:9471|NCIT:C79598
MONDO:0002135	optic nerve disease	biolink:Disease	mondo	ICD9:377.9|UMLS:C0029132|DOID:1891|COHD:374360|SCTID:77157004|NCIT:C79698|ICD9:377.49|MESH:D009901		second cranial nerve disorder|disorder of cranial nerve II|disease of cranial nerve II|disease or disorder of cranial nerve II|optic nerve disorder|cranial nerve II disease|optic neuropathy|cranial nerve II disease or disorder|disorder of cranial nerve II|disorder of the second nerve	http://purl.obolibrary.org/obo/MONDO_0002135	A non-neoplastic or neoplastic disorder affecting the optic nerve (second cranial nerve).	MESH:D009901|UMLS:C0029132|SNOMEDCT:77157004|DOID:1891|NCIT:C79698
MONDO:0004799	ulcerative blepharitis	biolink:Disease	mondo	COHD:441558|ICD10:H01.01|SCTID:91662004|UMLS:C0155173|ICD9:373.01|DOID:9483			http://purl.obolibrary.org/obo/MONDO_0004799		UMLS:C0155173|DOID:9483|SNOMEDCT:91662004
MONDO:0002136	eczematous dermatitis of eyelid	biolink:Disease	mondo	SCTID:36259009|DOID:1893|COHD:437557|ICD9:373.31|UMLS:C0155177|ICD10:H01.13			http://purl.obolibrary.org/obo/MONDO_0002136		UMLS:C0155177|SNOMEDCT:36259009|DOID:1893
MONDO:0002137	noninfectious dermatoses of eyelid	biolink:Disease	mondo	SCTID:111524003|DOID:1894|ICD10:H01.1|UMLS:C0155176|ICD9:373.3		non-infected eyelid dermatoses	http://purl.obolibrary.org/obo/MONDO_0002137		UMLS:C0155176|DOID:1894|SNOMEDCT:111524003
MONDO:0004798	obsolete Sheehan syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004798		
MONDO:0002130	upper limb mononeuronitis	biolink:Disease	mondo	ICD9:354.9|DOID:1844		mononeuritis of upper limb|mononeuritis upper limb|mononeuritis simplex of forelimb|forelimb mononeuritis simplex|mononeuritis of upper limb, unspecified	http://purl.obolibrary.org/obo/MONDO_0002130	A disease affecting a single peripheral nerve of the upper limb.	DOID:1844
MONDO:0004793	obsolete uterine corpus cancer	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004793		
MONDO:0004792	cancer of isthmus of fallopian tube	biolink:Disease	mondo	DOID:9459|ICD9:182.1		isthmus of fallopian tube cancer|cancer of isthmus of fallopian tube|malignant neoplasm of isthmus of fallopian tube|malignant isthmus of fallopian tube neoplasm	http://purl.obolibrary.org/obo/MONDO_0004792	A cancer that involves the UBERON:0016632.	DOID:9459
MONDO:0002131	jaw cancer	biolink:Disease	mondo	MESH:D007573|DOID:1862|EFO:0007333		malignant jaw skeleton neoplasm|neoplasm of jaw|cancer of jaw skeleton|jaw neoplasm|jaw skeleton cancer|malignant neoplasm of jaw skeleton	http://purl.obolibrary.org/obo/MONDO_0002131	A malignant neoplasm involving the jaw skeleton	MESH:D007573|DOID:1862
MONDO:0004795	otitis externa	biolink:Disease	mondo	NCIT:C3299|MESH:D010032|ICD10:H60|ICD9:380.1|COHD:380731|DOID:9463|SCTID:3135009|ICD9:380.10		swimmer's Ear|outer Ear infection|external Ear infection|infectious otitis externa|swimmer's ear|otitis externa	http://purl.obolibrary.org/obo/MONDO_0004795	Inflammation of the anatomical structures of the outer ear and ear canal secondary to an infectious process. Bacterial etiology is most common, but fungal infection is also possible. Symptoms include erythema, edema, and pain.	SNOMEDCT:3135009|MESH:D010032|DOID:9463|NCIT:C3299
MONDO:0002132	skull cancer	biolink:Disease	mondo	DOID:1863		cancer of skull|skull cancer|malignant neoplasm of skull|malignant skull neoplasm	http://purl.obolibrary.org/obo/MONDO_0002132	A malignant neoplasm involving the skull.	DOID:1863
MONDO:0004794	exposure keratitis	biolink:Disease	mondo	UMLS:C0339295|COHD:379812|SCTID:14366000|ICD9:370.34|ICD10:H16.21|DOID:9461		lagophthalmic keratitis|exposure keratoconjunctivitis	http://purl.obolibrary.org/obo/MONDO_0004794		UMLS:C0339295|DOID:9461|SNOMEDCT:14366000
GO:1901522	positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus	biolink:OntologyClass	mondo			upregulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|positive regulation of global transcription from Pol II promoter involved in cellular response to chemical stimulus|positive regulation of gene-specific transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|upregulation of global transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|activation of global transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|positive regulation of transcription from Pol II promoter involved in cellular response to chemical stimulus|up regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|up-regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|activation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|up-regulation of global transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|stimulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|stimulation of global transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|up regulation of global transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus	http://purl.obolibrary.org/obo/GO_1901522	Any positive regulation of transcription from RNA polymerase II promoter that is involved in cellular response to chemical stimulus.	
MONDO:0002133	chronic rheumatic pericarditis	biolink:Disease	mondo	UMLS:C0155561|ICD10:I09.2|ICD9:393|SCTID:78069008|DOID:1869|COHD:321307		rheumatic pericarditis, chronic	http://purl.obolibrary.org/obo/MONDO_0002133	Chronic form of rheumatic pericarditis.	SNOMEDCT:78069008|UMLS:C0155561|DOID:1869
MONDO:0004791	obsolete lipid storage disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004791		
GO:0047453	ATP-dependent NAD(P)H-hydrate dehydratase activity	biolink:OntologyClass	mondo			(6S)-beta-6-hydroxy-1,4,5,6-tetrahydronicotinamide-adenine-dinucleotide hydro-lyase(ATP-hydrolysing; NADH-forming)|ATP-dependent H(4)NAD(P)OH dehydratase activity|reduced nicotinamide adenine dinucleotide hydrate dehydratase activity|ATP-dependent H4NAD(P)OH dehydratase activity|(6S)-beta-6-hydroxy-1,4,5,6-tetrahydronicotinamide-adenine-dinucleotide hydro-lyase (ATP-hydrolysing)	http://purl.obolibrary.org/obo/GO_0047453	Catalysis of the reaction: (6S)-6beta-hydroxy-1,4,5,6-tetrahydronicotinamide adenine dinucleotide + ATP = ADP + 3 H(+) + NADH + phosphate.	
MONDO:0004790	fatty liver disease	biolink:Disease	mondo	DOID:9452|ICD9:571.0|ICD10:K70.0|SCTID:197321007|ICD9:571.8|SCTID:371330000|EFO:0003934|MESH:D005234		steatosis of liver|alcoholic fatty liver|fatty liver|hepatic lipidosis|fatty change of liver	http://purl.obolibrary.org/obo/MONDO_0004790	A reversible condition wherein large vacuoles of triglyceride fat accumulate in liver cells via the process of steatosis.	MESH:D005234|DOID:9452|SNOMEDCT:371330000|SNOMEDCT:197321007
MONDO:0014127	oculocutaneous albinism type 5	biolink:Disease	mondo	SCTID:722057000|OMIM:615312|UMLS:CN204842|DOID:0070099|ICD10:E70.3|Orphanet:370091	ordo_disease	OCA5|albinism, oculocutaneous, type V; OCA5|albinism, oculocutaneous, type V|oculocutaneous albinism type V	http://purl.obolibrary.org/obo/MONDO_0014127	Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered.	SNOMEDCT:722057000|ORPHA:370091|DOID:0070099|http://identifiers.org/omim/615312|UMLS:CN204842
MONDO:0014126	Perrault syndrome 4	biolink:Disease	mondo	OMIM:615300|UMLS:C3809105		Perrault syndrome caused by mutation in LARS2|Perrault syndrome type 4|Perrault syndrome 4; PRLTS4|Perrault syndrome 4|PRLTS4|LARS2 Perrault syndrome	http://purl.obolibrary.org/obo/MONDO_0014126	Any Perrault syndrome in which the cause of the disease is a mutation in the LARS2 gene.	UMLS:C3809105|http://identifiers.org/omim/615300
MONDO:0014125	symphalangism, proximal, 1B	biolink:Disease	mondo	OMIM:615298|UMLS:C3809104		symphalangism, proximal, 1B|proximal symphalangism (disease) caused by mutation in GDF5|symphalangism, proximal, type 1B|symphalangism, proximal, 1B; SYM1B|SYM1B|GDF5 proximal symphalangism (disease)	http://purl.obolibrary.org/obo/MONDO_0014125	Any proximal symphalangism in which the cause of the disease is a mutation in the GDF5 gene.	UMLS:C3809104|http://identifiers.org/omim/615298
MONDO:0014124	Adams-Oliver syndrome 4	biolink:Disease	mondo	UMLS:C3809092|OMIM:615297		AOS4|Adams-Oliver syndrome caused by mutation in EOGT|Adams-Oliver syndrome 4; AOS4|EOGT Adams-Oliver syndrome|Adams-Oliver syndrome type 4|Adams-Oliver syndrome 4	http://purl.obolibrary.org/obo/MONDO_0014124	Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the EOGT gene.	UMLS:C3809092|http://identifiers.org/omim/615297
MONDO:0016786	partial hydatidiform mole	biolink:Disease	mondo	ICDO:9103/0|ONCOTREE:PHM|UMLS:C0334529|Orphanet:254693|NCIT:C4293|SCTID:237250000|ICD10:O01.1	ordo_clinical_subtype	PHM|incomplete hydatid Mole|incomplete hydatidiform mole|partial Mole|partial hydatid Mole|partial molar pregnancy|incomplete molar pregnancy	http://purl.obolibrary.org/obo/MONDO_0016786	Partial hydatiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage.	ORPHA:254693|SNOMEDCT:237250000|NCIT:C4293|UMLS:C0334529
MONDO:0016787	epithelioid trophoblastic tumor	biolink:Disease	mondo	UMLS:C1266159|Orphanet:254698|ICD10:D39.2|ONCOTREE:ETT|ICDO:9105/3|DOID:3593|SCTID:609515005|NCIT:C6900	ordo_disease	ETT|epithelioid trophoblastic tumor	http://purl.obolibrary.org/obo/MONDO_0016787	An epithelioid trophoblastic tumor is an extremely rare gestational trophoblastic tumor (GTT) which generally occurs several years after pregnancy.	UMLS:C1266159|ORPHA:254698|DOID:3593|SNOMEDCT:609515005|NCIT:C6900
MONDO:0014129	autosomal recessive limb-girdle muscular dystrophy type 2R	biolink:Disease	mondo	UMLS:C3809137|OMIM:615325|ICD10:G71.0|Orphanet:363543|DOID:0110286	ordo_disease	DES autosomal recessive limb-girdle muscular dystrophy|autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES|muscular dystrophy, limb-girdle, type 2R; LGMD2R|autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency|LGMD2R|muscular dystrophy, limb-girdle, type 2R	http://purl.obolibrary.org/obo/MONDO_0014129	Autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R) is a form of limb-girdle muscular dystrophy characterized by the adolescent or early adulthood-onset of progressive proximal muscle weakness and mild facial muscle weakness, with patients becoming wheelchair bound in their fourth to fifth decade of life. Mild, bilateral winged scapula, incomplete right bundle branch block, and a sinus rhythm with very rare ventricular extrasystoles have also been reported.	ORPHA:363543|UMLS:C3809137|DOID:0110286|http://identifiers.org/omim/615325
MONDO:0016788	genetic hyperferritinemia without iron overload	biolink:Disease	mondo	SCTID:766929007|Orphanet:254704	ordo_biological_anomaly	benign hyperferritinemia	http://purl.obolibrary.org/obo/MONDO_0016788	Genetic hyperferritinemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterized by an apparently asymptomatic clinical phenotype.	ORPHA:254704|SNOMEDCT:766929007
MONDO:0016789	pyruvate metabolism disorder	biolink:Disease	mondo	UMLS:CN226999|Orphanet:254746|ICD10:E74.4	ordo_group_of_disorders	inborn pyruvate metabolic process disorder|inborn error of pyruvate metabolic process|rare inborn error of pyruvate metabolic process|rare inborn error of pyruvate metabolic process	http://purl.obolibrary.org/obo/MONDO_0016789	An acquired metabolic disease that is has its basis in the disruption of pyruvate metabolic process.	UMLS:CN226999|ORPHA:254746
MONDO:0014128	craniosynostosis 3	biolink:Disease	mondo	OMIM:615314|UMLS:C3715051		CRS3|craniosynostosis 3|TCF12 craniosynostosis|craniosynostosis 3; CRS3|craniosynostosis caused by mutation in TCF12|craniosynostosis type 3	http://purl.obolibrary.org/obo/MONDO_0014128	Any craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene.	http://identifiers.org/omim/615314|UMLS:C3715051
MONDO:0016782	paternal 14q32.2 hypomethylation syndrome	biolink:Disease	mondo	Orphanet:254531|UMLS:CN202038	ordo_etiological_subtype		http://purl.obolibrary.org/obo/MONDO_0016782		ORPHA:254531|UMLS:CN202038
MONDO:0016783	maternal 14q32.2 hypermethylation syndrome	biolink:Disease	mondo	ICD10:Q99.8|UMLS:CN202039|Orphanet:254534	ordo_etiological_subtype		http://purl.obolibrary.org/obo/MONDO_0016783		ORPHA:254534|UMLS:CN202039
MONDO:0016784	gestational trophoblastic disease	biolink:Disease	mondo	ONCOTREE:GTD|Orphanet:254685|ICD9:631|SCTID:416402001	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016784		SNOMEDCT:416402001|ORPHA:254685|UMLS:C2931618
MONDO:0016785	complete hydatidiform mole	biolink:Disease	mondo	NCIT:C4871|ONCOTREE:CHM|SCTID:237249000|UMLS:C0678213|ICD10:O01.0|Orphanet:254688	ordo_clinical_subtype	complete Mole|complete hydatid Mole|complete molar pregnancy|classical hydatidiform Mole	http://purl.obolibrary.org/obo/MONDO_0016785	Complete hydatidiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma.	SNOMEDCT:237249000|ORPHA:254688|UMLS:C0678213|NCIT:C4871
MONDO:0014123	primary ciliary dyskinesia 21	biolink:Disease	mondo	ICD10:Q34.8|DOID:0110596|UMLS:C3809087|OMIM:615294		ciliary dyskinesia, primary, 21; CILD21|CILD21|ciliary dyskinesia, primary, type 21|DRC1 primary ciliary dyskinesia|ciliary dyskinesia, primary, 21|primary ciliary dyskinesia 21 without situs inversus|primary ciliary dyskinesia type 21|primary ciliary dyskinesia caused by mutation in DRC1|ciliary dyskinesia, primary, 21, without situs inversus	http://purl.obolibrary.org/obo/MONDO_0014123	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DRC1 gene.	UMLS:C3809087|DOID:0110596|http://identifiers.org/omim/615294
MONDO:0014122	myofibromatosis, infantile, 2	biolink:Disease	mondo	UMLS:C3809084|OMIM:615293		myofibromatosis caused by mutation in NOTCH3|myofibromatosis, infantile, type 2|myofibromatosis, infantile, 2|NOTCH3 myofibromatosis|IMF2|myofibromatosis, infantile, 2; IMF2	http://purl.obolibrary.org/obo/MONDO_0014122	Any myofibromatosis in which the cause of the disease is a mutation in the NOTCH3 gene.	UMLS:C3809084|http://identifiers.org/omim/615293
MONDO:0014121	autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	biolink:Disease	mondo	UMLS:C3809049|ICD10:G12.1|GARD:0013222|Orphanet:363454|OMIM:615290	ordo_clinical_subtype	spinal muscular atrophy, LOWER extremity-predominant, 2, autosomal dominant|spinal muscular atrophy, LOWER extremity-predominant, 2, autosomal dominant; SMALED2|autosomal dominant spinal muscular atrophy, lower extremity-predominant 2|SMALED2|Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures|spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0014121		UMLS:C3809049|http://identifiers.org/omim/615290|ORPHA:363454
MONDO:0016780	paternal 14q32.2 microdeletion syndrome	biolink:Disease	mondo	ICD10:Q93.5|UMLS:CN202036|Orphanet:254525	ordo_etiological_subtype	paternal monosomy 14q32.2|paternal del(14)(q32.2)	http://purl.obolibrary.org/obo/MONDO_0016780		ORPHA:254525|UMLS:CN202036
MONDO:0016781	maternal 14q32.2 microdeletion syndrome	biolink:Disease	mondo	ICD10:Q93.5|Orphanet:254528|UMLS:CN202037	ordo_etiological_subtype	maternal del(14)(q32.2)|maternal monosomy 14q32.2	http://purl.obolibrary.org/obo/MONDO_0016781		ORPHA:254528|UMLS:CN202037
MONDO:0014120	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	biolink:Disease	mondo	UMLS:C3809042|DOID:0111238|OMIM:615287		muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13; MDDGA13|MDDGA13|Walker-Warburg syndrome or muscle-eye-brain disease, B3Gnt1-related	http://purl.obolibrary.org/obo/MONDO_0014120		DOID:0111238|UMLS:C3809042|http://identifiers.org/omim/615287
MONDO:0002149	reproductive system cancer	biolink:Disease	mondo	DOID:193|NCIT:C36076|UMLS:C1334618		cancer of reproductive system|malignant reproductive organ neoplasm|cancer of reproductive system|cancer of reproductive organ|reproductive system cancer|malignant reproductive system neoplasm|malignant neoplasm of reproductive system|reproductive organ cancer|malignant neoplasm of reproductive organ|reproductive tumor	http://purl.obolibrary.org/obo/MONDO_0002149	A malignant neoplasm involving the reproductive organ	DOID:193|NCIT:C36076|UMLS:C1334618
SO:0000110	sequence_feature	biolink:SequenceFeature	mondo			INSDC_note:other|INSDC_feature:misc_feature|sequence feature|located_sequence_feature|located sequence feature|INSDC_note:sequence_feature	http://purl.obolibrary.org/obo/SO_0000110	Any extent of continuous biological sequence.	
MONDO:0002145	sex differentiation disease	biolink:Disease	mondo	Orphanet:90771|GTR:AN1172969|SCTID:39179006|NCIT:C103186|UMLS:CN757797|MedDRA:10070597|DOID:1923|MESH:D012734	ordo_group_of_disorders	disorder of sex differentiation|conditions affecting reproductive development|differences of Sex development|disorders of sex development (DSD)|sexual differentiation disorder|disorder of sex differentiation|intersex conditions|DSD|intersex|disorder of sex development|disorder of sexual differentiation|sex differentiation disorder|CARD|disorders of Sex development	http://purl.obolibrary.org/obo/MONDO_0002145	A congenital disorder characterized by abnormalities in the development of the sexual characteristics.	SNOMEDCT:39179006|NCIT:C103186|ORPHA:90771|MESH:D012734|UMLS:C0036875|DOID:1923|UMLS:CN757797|MEDDRA:10070597
MONDO:0002146	hypogonadism	biolink:Disease	mondo	SCTID:48130008|NCIT:C9227|MESH:D007006|DOID:1924|ICD9:253.4|UMLS:C0020619		gonadotropin deficiency|hypogonadotropism	http://purl.obolibrary.org/obo/MONDO_0002146	A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation.	NCIT:C9227|SNOMEDCT:48130008|MESH:D007006|DOID:1924|UMLS:C0020619
CHEBI:24734	hydroxyphenylalanine	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_24734		
MONDO:0002147	obsolete Coffin-Siris syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002147		
MONDO:0002148	obsolete sphingolipidosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002148		
GO:1901534	positive regulation of hematopoietic progenitor cell differentiation	biolink:OntologyClass	mondo			up regulation of hemopoietic progenitor cell differentiation|activation of hemopoietic progenitor cell differentiation|up regulation of hematopoietic progenitor cell differentiation|positive regulation of hemopoietic progenitor cell differentiation|up-regulation of haemopoietic progenitor cell differentiation|activation of haematopoietic progenitor cell differentiation|upregulation of haematopoietic progenitor cell differentiation|upregulation of hemopoietic progenitor cell differentiation|upregulation of hematopoietic progenitor cell differentiation|activation of hematopoietic progenitor cell differentiation|activation of haemopoietic progenitor cell differentiation|upregulation of haemopoietic progenitor cell differentiation|positive regulation of haematopoietic progenitor cell differentiation|up regulation of haematopoietic progenitor cell differentiation|positive regulation of haemopoietic progenitor cell differentiation|up-regulation of hemopoietic progenitor cell differentiation|up-regulation of hematopoietic progenitor cell differentiation|up regulation of haemopoietic progenitor cell differentiation|up-regulation of haematopoietic progenitor cell differentiation	http://purl.obolibrary.org/obo/GO_1901534	Any process that activates or increases the frequency, rate or extent of hematopoietic progenitor cell differentiation.	
MONDO:0002141	cutaneous undifferentiated pleomorphic sarcoma	biolink:Disease	mondo	SCTID:404014008|DOID:1906|ICD9:171.9|NCIT:C5576|EFO:1000212|UMLS:C1275254		cutaneous unclassified pleomorphic sarcoma|malignant skin fibrous histiocytoma|cutaneous undifferentiated pleomorphic sarcoma|cutaneous unclassified pleomorphic sarcoma (formerly cutaneous "MFH")|cutaneous unclassified pleomorphic sarcoma (formerly cutaneous "malignant fibrous histiocytoma")|zone of skin undifferentiated pleomorphic sarcoma|cutaneous malignant fibrous histiocytoma|malignant cutaneous fibrous histiocytoma|vaginal melanoma|undifferentiated pleomorphic sarcoma of zone of skin|malignant fibrous histiocytoma of skin|malignant fibrous histiocytoma of the skin|cutaneous unclassified pleomorphic sarcoma (formerly cutaneous)	http://purl.obolibrary.org/obo/MONDO_0002141	An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm.	SNOMEDCT:404014008|UMLS:C1275254|NCIT:C5576|DOID:1906
MONDO:0002142	undifferentiated pleomorphic sarcoma	biolink:Disease	mondo	MESH:D051677|ICDO:8830/3|DOID:1907|ICD10:C49.9|GARD:0006963|Orphanet:2023|SCTID:443439001|HGNC:16982|ONCOTREE:MFH|NCIT:C4247|ICD9:171.9|EFO:1001972|NCIT:C114541|MedDRA:10025552	ordo_disease|gard_rare	Storiform-pleomorphic MFH|undifferentiated pleomorphic soft tissue sarcoma|adult unclassified pleomorphic sarcoma|MFH|malignant fibroxanthoma|adult undifferentiated pleomorphic sarcoma|fibrous histiocytoma, malignant (morphologic abnormality)|Unclassified Pleomorphic sarcoma (formerly "MFH")|malignant fibrohistiocytic tumors|histiocytoma, fibrous, malignant|malignant fibrous histiocytoma|Unclassified Pleomorphic sarcoma (formerly "malignant fibrous histiocytoma")|UPS|undifferentiated pleomorphic sarcoma/malignant fibrous histiocytoma/high-grade spindle cell sarcoma|malignant fibrous histiocytoma of soft tissue and bone|fibrous histiocytoma, malignant|fibroxanthosarcoma|malignant fibrous histiocytoma of the soft tissue and bone|adult malignant fibrous histiocytoma|fibroxanthosarcoma (morphologic abnormality)|malignant fibrous cytoma|Storiform-pleomorphic malignant fibrous histiocytoma|unclassified pleomorphic sarcoma|undifferentiated pleomorphic sarcoma|Storiform-pleomorphic fibrous histiocytoma	http://purl.obolibrary.org/obo/MONDO_0002142	An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma.	NCIT:C114541|MESH:D051677|NCIT:C4247|DOID:1907|SNOMEDCT:443439001|UMLS:C0334463|MEDDRA:10025552|ORPHA:2023
MONDO:0002143	vaginal yolk sac tumor	biolink:Disease	mondo	NCIT:C6379|ONCOTREE:VYST|UMLS:C1336945|DOID:1910		yolk sac tumor|vaginal endodermal sinus neoplasm|vaginal endodermal sinus tumor|vaginal yolk Sac neoplasm|vaginal yolk Sac tumor	http://purl.obolibrary.org/obo/MONDO_0002143	A rare yolk sac tumor that arises from the vagina. Patients present with abnormal vaginal bleeding or bloody discharge.	NCIT:C6379|DOID:1910|UMLS:C1336945
GO:1901532	regulation of hematopoietic progenitor cell differentiation	biolink:OntologyClass	mondo			regulation of haematopoietic progenitor cell differentiation|regulation of haemopoietic progenitor cell differentiation|regulation of hemopoietic progenitor cell differentiation	http://purl.obolibrary.org/obo/GO_1901532	Any process that modulates the frequency, rate or extent of hematopoietic progenitor cell differentiation.	
MONDO:0002144	obsolete hyperuricemia (disease)	biolink:Disease	mondo	EFO:0009104|MESH:D033461|ICD9:790.6|DOID:1920|SCTID:35885006|UMLS:C0740394		hyperuricemia|blood urate raized|uricacidemia	http://purl.obolibrary.org/obo/MONDO_0002144		UMLS:C0740394|SNOMEDCT:35885006|DOID:1920|MESH:D033461|NCIT:C3961
GO:1901533	negative regulation of hematopoietic progenitor cell differentiation	biolink:OntologyClass	mondo			downregulation of haemopoietic progenitor cell differentiation|down regulation of haematopoietic progenitor cell differentiation|inhibition of hematopoietic progenitor cell differentiation|down regulation of haemopoietic progenitor cell differentiation|down-regulation of hemopoietic progenitor cell differentiation|negative regulation of hemopoietic progenitor cell differentiation|negative regulation of haematopoietic progenitor cell differentiation|down-regulation of haematopoietic progenitor cell differentiation|down-regulation of hematopoietic progenitor cell differentiation|down regulation of hemopoietic progenitor cell differentiation|down-regulation of haemopoietic progenitor cell differentiation|negative regulation of haemopoietic progenitor cell differentiation|inhibition of haematopoietic progenitor cell differentiation|down regulation of hematopoietic progenitor cell differentiation|inhibition of hemopoietic progenitor cell differentiation|downregulation of hemopoietic progenitor cell differentiation|inhibition of haemopoietic progenitor cell differentiation|downregulation of haematopoietic progenitor cell differentiation|downregulation of hematopoietic progenitor cell differentiation	http://purl.obolibrary.org/obo/GO_1901533	Any process that stops, prevents or reduces the frequency, rate or extent of hematopoietic progenitor cell differentiation.	
MONDO:0002140	vagina sarcoma	biolink:Disease	mondo	DOID:1901|UMLS:C0238519|NCIT:C7737		sarcoma of the vagina|sarcoma of vagina|vaginal sarcoma|vagina sarcoma	http://purl.obolibrary.org/obo/MONDO_0002140	A malignant mesenchymal neoplasm that arises from the vagina. Representative examples include botryoid-type embryonal rhabdomyosarcoma, leiomyosarcoma, and endometrioid stromal sarcoma.	NCIT:C7737|DOID:1901|UMLS:C0238519
MONDO:0014116	complex cortical dysplasia with other brain malformations 2	biolink:Disease	mondo	DOID:0090133|OMIM:615282|UMLS:C3809013		complex cortical dysplasia with other brain malformations type 2|KIF5C complex cortical dysplasia with other brain malformations|CDCBM2|cortical dysplasia, complex, with other brain malformations 2; CDCBM2|cortical dysplasia, complex, with other brain malformations 2|complex cortical dysplasia with other brain malformations caused by mutation in KIF5C|cortical dysplasia, Complex, with Other brain malformations type 2	http://purl.obolibrary.org/obo/MONDO_0014116	Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF5C gene.	UMLS:C3809013|DOID:0090133|http://identifiers.org/omim/615282
MONDO:0016779	multiple congenital anomalies due to 14q32.2 maternally expressed gene defect	biolink:Disease	mondo	DOID:0111712|Orphanet:254519	ordo_malformation_syndrome	MCA due to 14q32.2 maternally expressed gene defect	http://purl.obolibrary.org/obo/MONDO_0016779	Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma.	ORPHA:254519|DOID:0111712
MONDO:0014115	hypomyelination with brain stem and spinal cord involvement and leg spasticity	biolink:Disease	mondo	UMLS:C3809008|Orphanet:363412|OMIM:615281|ICD10:E75.2	ordo_disease	HBSL|hypomyelination with brainstem and spinal cord involvement and leg spasticity|aspartyl-tRNA synthetase deficiency|hypomyelination with brainstem and spinal cord involvement and leg spasticity; HBSL	http://purl.obolibrary.org/obo/MONDO_0014115		ORPHA:363412|UMLS:C3809008|http://identifiers.org/omim/615281
MONDO:0014114	cardiofaciocutaneous syndrome 4	biolink:Disease	mondo	OMIM:615280|UMLS:C3809007|DOID:0111463		cardiofaciocutaneous syndrome 4; CFC4|cardiofaciocutaneous syndrome caused by mutation in MAP2K2|CFC4|MAP2K2 cardiofaciocutaneous syndrome|cardiofaciocutaneous syndrome 4|cardiofaciocutaneous syndrome type 4	http://purl.obolibrary.org/obo/MONDO_0014114	Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K2 gene.	DOID:0111463|UMLS:C3809007|http://identifiers.org/omim/615280
MONDO:0014113	cardiofaciocutaneous syndrome 3	biolink:Disease	mondo	UMLS:C3809006|OMIM:615279|DOID:0111462		cardiofaciocutaneous syndrome caused by mutation in MAP2K1|cardiofaciocutaneous syndrome 3|cardiofaciocutaneous syndrome type 3|MAP2K1 cardiofaciocutaneous syndrome|cardiofaciocutaneous syndrome 3; CFC3|CFC3	http://purl.obolibrary.org/obo/MONDO_0014113	Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K1 gene.	DOID:0111462|UMLS:C3809006|http://identifiers.org/omim/615279
MONDO:0016775	lichen planus pemphigoides	biolink:Disease	mondo	UMLS:C0406369|Orphanet:254478|GARD:0012677|SCTID:238653005|ICD10:L43.8	ordo_disease|gard_rare	LP pemphigoides	http://purl.obolibrary.org/obo/MONDO_0016775	Lichen planus (LP) pemphigoides is a rare cross-over syndrome between lichen planus and bullous pemphigoid.	UMLS:C0406369|ORPHA:254478|SNOMEDCT:238653005
MONDO:0016776	frontal fibrosing alopecia	biolink:Disease	mondo	UMLS:C4255374|GARD:0010886|SCTID:717055000|ICD10:L66.1|Orphanet:254492	gard_rare|ordo_disease	FFA	http://purl.obolibrary.org/obo/MONDO_0016776	Frontal fibrosing alopecia (FFA) is a rare variant of lichen planopilaris characterized by symmetrical, progressive, band-like anterior hair loss of the scalp.	UMLS:C4255374|ORPHA:254492|SNOMEDCT:717055000|UMLS:C1274700
MONDO:0014119	intellectual disability-strabismus syndrome	biolink:Disease	mondo	ICD10:H50.8|OMIM:615286|Orphanet:363528|UMLS:C3809039	ordo_disease	mental retardation, autosomal recessive type 36|mental retardation, autosomal recessive 36|MRT36|mental retardation, autosomal recessive 36; MRT36|intellectual disability, autosomal recessive type 36|intellectual disability, autosomal recessive 36|intellectual disability, autosomal recessive 36; MRT36	http://purl.obolibrary.org/obo/MONDO_0014119		ORPHA:363528|UMLS:C3809039|http://identifiers.org/omim/615286
MONDO:0016777	inhalational botulism	biolink:Disease	mondo	SCTID:409562009|ICD10:A05.1|UMLS:C1443900|Orphanet:254504	ordo_clinical_subtype	inhalation botulism	http://purl.obolibrary.org/obo/MONDO_0016777	Inhalational botulism is a man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs).	ORPHA:254504|SNOMEDCT:409562009|UMLS:C1443900
MONDO:0014118	congenital neutropenia-myelofibrosis-nephromegaly syndrome	biolink:Disease	mondo	ICD10:D70|UMLS:C3809031|Orphanet:369852|OMIM:615285	ordo_disease	neutropenia, severe congenital, 5, autosomal recessive; SCN5|SCN5|neutropenia, severe congenital, 5, autosomal recessive|vps45 deficiency|congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome	http://purl.obolibrary.org/obo/MONDO_0014118		UMLS:C3809031|ORPHA:369852|http://identifiers.org/omim/615285
MONDO:0016778	iatrogenic botulism	biolink:Disease	mondo	NCIT:C128345|UMLS:C4288922|Orphanet:254509|ICD10:A05.1	ordo_clinical_subtype	inadvertent botulism|accidental botulism	http://purl.obolibrary.org/obo/MONDO_0016778	Iatrogenic botulism is the most recent man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and it may occur as an adverse event after therapeutic or cosmetic use.	ORPHA:254509|NCIT:C128345|UMLS:C4288922
MONDO:0014117	Charcot-Marie-Tooth disease type 4B3	biolink:Disease	mondo	DOID:0110194|Orphanet:363981|OMIM:615284|UMLS:C3695063|ICD10:G60.0|SCTID:763345008	ordo_disease	Charcot-Marie-Tooth disease, type 4B3|Charcot-Marie-Tooth disease, type 4B3; CMT4B3|CMT4B3|SBF1 Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4 caused by mutation in SBF1|Charcot-Marie-Tooth disease with focally folded myelin	http://purl.obolibrary.org/obo/MONDO_0014117	Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss).	ORPHA:363981|DOID:0110194|SNOMEDCT:763345008|http://identifiers.org/omim/615284|UMLS:C3695063
MONDO:0016771	annular atrophic lichen planus	biolink:Disease	mondo	Orphanet:254411|GARD:0012676|SCTID:720493003|ICD10:L43.8|UMLS:C4304037	gard_rare|ordo_disease	annular atrophic LP	http://purl.obolibrary.org/obo/MONDO_0016771	Annular atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by both annular and atrophic LP features in the same lesion.	ORPHA:254411|SNOMEDCT:720493003|UMLS:C4304037
MONDO:0016772	annular lichen planus	biolink:Disease	mondo	Orphanet:254424|UMLS:C0406363|GARD:0012674|SCTID:201000006|ICD10:L43.8	gard_rare|ordo_disease	annular LP	http://purl.obolibrary.org/obo/MONDO_0016772	Annular lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of annular lesions.	ORPHA:254424|SNOMEDCT:201000006|UMLS:C0406363
GO:0060429	epithelium development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060429	The process whose specific outcome is the progression of an epithelium over time, from its formation to the mature structure. An epithelium is a tissue that covers the internal or external surfaces of an anatomical structure.	
MONDO:0016773	atrophic lichen planus	biolink:Disease	mondo	MedDRA:10056959|UMLS:C0023647|GARD:0012675|ICD10:L43.8|NCIT:C34777|Orphanet:254449|SCTID:25858008	gard_rare|ordo_disease	atrophic LP	http://purl.obolibrary.org/obo/MONDO_0016773	Atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of pale papules or plaques with an atrophic center.	NCIT:C34777|ORPHA:254449|UMLS:C0023647|MEDDRA:10056959|SNOMEDCT:25858008
OIO:hasBroadSynonym	has_broad_synonym	biolink:OntologyClass	mondo				http://www.geneontology.org/formats/oboInOwl#hasBroadSynonym		
MONDO:0016774	lichen planus pigmentosus	biolink:Disease	mondo	SCTID:717061002|UMLS:C0406366|ICD10:L43.8|Orphanet:254463|GARD:0010816	gard_rare|ordo_disease	LP pigmentosus|LP pigmentosa|lichen planus pigmentosus inversus|lichen planus pigmentosa	http://purl.obolibrary.org/obo/MONDO_0016774	Lichen planus (LP) pigmentosus is a rare variant of cutaneous lichen planus characterized by the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body.	ORPHA:254463|SNOMEDCT:717061002|UMLS:C0406366
MONDO:0014112	cardiofaciocutaneous syndrome 2	biolink:Disease	mondo	DOID:0111461|UMLS:C3809005|OMIM:615278		cardiofaciocutaneous syndrome 2|cardiofaciocutaneous syndrome type 2|cardiofaciocutaneous syndrome caused by mutation in kras|cardiofaciocutaneous syndrome caused by mutation in KRAS|KRAS cardiofaciocutaneous syndrome|kras cardiofaciocutaneous syndrome|cardiofaciocutaneous syndrome 2; CFC2|CFC2	http://purl.obolibrary.org/obo/MONDO_0014112	Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the KRAS gene.	DOID:0111461|UMLS:C3809005|http://identifiers.org/omim/615278
MONDO:0014111	cataract 19 multiple types	biolink:Disease	mondo	UMLS:C3809004|ICD10:Q12.0|OMIM:615277|DOID:0110263		CTRCT19|cataract type 19|LIM2 early-onset non-syndromic cataract|cataract 19, multiple types; CTRCT19|cataract 19, multiple types|early-onset non-syndromic cataract caused by mutation in LIM2|cataract 19; CTRCT19|cataract 19	http://purl.obolibrary.org/obo/MONDO_0014111	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LIM2 gene.	UMLS:C3809004|DOID:0110263|http://identifiers.org/omim/615277
MONDO:0014110	cataract 15 multiple types	biolink:Disease	mondo	OMIM:615274|ICD10:Q12.0|DOID:0110251|UMLS:C3809001		cataract 15, multiple types|early-onset non-syndromic cataract caused by mutation in MIP|MIP early-onset non-syndromic cataract|cataract 15, multiple types; CTRCT15|CTRCT15	http://purl.obolibrary.org/obo/MONDO_0014110	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MIP gene.	DOID:0110251|UMLS:C3809001|http://identifiers.org/omim/615274
MONDO:0016770	actinic lichen planus	biolink:Disease	mondo	UMLS:C0406365|SCTID:200999007|GARD:0012673|Orphanet:254395|ICD10:L43.8	ordo_disease|gard_rare	summertime actinic lichenoid eruption|lichen planus tropicus|lichenoid melanodermatitis|actinic LP|lichen planus subtropicus|lichen planus actinus	http://purl.obolibrary.org/obo/MONDO_0016770	Actinic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of photo-distributed lichenoid lesions.	ORPHA:254395|UMLS:C0406365|SNOMEDCT:200999007
MONDO:0004779	epididymitis (disease)	biolink:Disease	mondo	MESH:D004823|HP:0000031|UMLS:C0014534|SCTID:31070006|DOID:9402|ICD10:N45.1|NCIT:C12328		epididymal|epididymitis|epididymis	http://purl.obolibrary.org/obo/MONDO_0004779	Inflammation of the epididymis. Its clinical features include enlarged epididymis, a swollen scrotum; pain; pyuria; and fever. It is usually related to infections in the urinary tract, which likely spread to the epididymis through either the vas deferens or the lymphatics of the spermatic cord.	NCIT:C12328|MESH:D004823|UMLS:C0014534|SNOMEDCT:31070006|DOID:9402
MONDO:0002116	malignant exocrine pancreas neoplasm	biolink:Disease	mondo	SCTID:255088001|UMLS:C0346648|DOID:1795|NCIT:C7430		cancer of exocrine pancreas|malignant neoplasm of exocrine pancreas|tumor of exocrine pancreas|malignant neoplasm of the exocrine pancreas|malignant exocrine pancreas neoplasm|malignant exocrine pancreas tumor|pancreatic exocrine tumor|malignant tumor of the exocrine pancreas|exocrine pancreas cancer|malignant tumor of exocrine pancreas	http://purl.obolibrary.org/obo/MONDO_0002116	A malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue.	UMLS:C0346648|SNOMEDCT:255088001|NCIT:C7430|DOID:1795
NCBITaxon:153136	Deltaretrovirus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_153136		
MONDO:0004778	epididymo-orchitis	biolink:Disease	mondo	ICD9:604|ICD10:N45|ICD10:N45.3|ICD9:604.90|UMLS:C0149881|SCTID:197983000|DOID:9401			http://purl.obolibrary.org/obo/MONDO_0004778	A disorder involving inflammation of the epididymis and testes.	UMLS:C0149881|SNOMEDCT:197983000|DOID:9401
MONDO:0002117	pancreas sarcoma	biolink:Disease	mondo	DOID:1796|NCIT:C5715|UMLS:C1096346		sarcoma of pancreas|pancreas sarcoma|pancreatic sarcoma|sarcoma of the pancreas	http://purl.obolibrary.org/obo/MONDO_0002117	A rare malignant soft tissue neoplasm that occurs primarily in the pancreas.	DOID:1796|NCIT:C5715|UMLS:C1096346
NCBITaxon:33154	Opisthokonta	organism taxon	mondo	GC_ID:1		opisthokonts|Fungi/Metazoa group	http://purl.obolibrary.org/obo/NCBITaxon_33154		
MONDO:0002118	urinary system disease	biolink:Disease	mondo	DOID:18|UMLS:C1335051|NCIT:C3430|ICD9:V47.4|MESH:D014570|SCTID:128606002		renal system disease|urinary tract diseases|disease, urologic|urinary system disease|urological disorders|urological disorder|disease, urinary tract|urinary disease|urologic disease|urinary system disorder|disease, urological|diseases, urologic|disorder of the urinary system|renal system disease or disorder|urinary tract disorder|disorder of renal system|urologic disorder|urological disease|disorder of urinary system|non-neoplastic urinary tract disease|diseases, urological|disease of renal system|renal disease|urological diseases|disease or disorder of renal system|disorder of renal system|urinary tract disease|diseases, urinary tract	http://purl.obolibrary.org/obo/MONDO_0002118	A disease involving the renal system.	UMLS:C1335051|DOID:18|NCIT:C3430|MESH:D014570|SNOMEDCT:128606002
MONDO:0002119	ossifying fibroma (disease)	biolink:Disease	mondo	ICDO:9274/0|UMLS:C0206640|ICDO:9262/0|MESH:D018214|NCIT:C8422|HP:0030426|DOID:180|EFO:0007412|GARD:0012792		peripheral ossifying fibroma|fibroma, ossifying, benign|cemento-ossifying fibroma|Cementifying fibroma|juvenile ossifying fibroma|ossifying fibroma|fibro-osteoma	http://purl.obolibrary.org/obo/MONDO_0002119	A well circumscribed lesion of the bone, most frequently arising from the posterior mandible. It is characterized by the presence of fibrous tissue and a mineralized component which may be woven bone, lamellar bone, or cementum-like material. Complete removal is recommended, since it continues to enlarge if left untreated.	DOID:180|NCIT:C8422|UMLS:C0206640|MESH:D018214
MONDO:0028743	obsolete dysostosis with brachydactyly with extraskeletal manifestations	biolink:Disease	mondo	Orphanet:498454	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0028743		ORPHA:498454
MONDO:0002112	benign peritoneal mesothelioma	biolink:Disease	mondo	DOID:1789|NCIT:C7354		peritoneal adenomatoid tumor|peritoneum benign mesothelioma|mesothelioma of peritoneum	http://purl.obolibrary.org/obo/MONDO_0002112	A rare, benign neoplasm that arises from the peritoneum and is characterized by the presence of gland like structures. Cytologic atypia is absent.	NCIT:C7354|DOID:1789
MONDO:0004775	lens-induced iridocyclitis	biolink:Disease	mondo	ICD9:364.23|SCTID:70461003|ICD10:H20.2|DOID:9388|UMLS:C0339320|COHD:438751		lens-induced iridocyclitis	http://purl.obolibrary.org/obo/MONDO_0004775		UMLS:C0339320|SNOMEDCT:70461003|DOID:9388
MONDO:0002113	peritoneal carcinoma	biolink:Disease	mondo	SCTID:447781009|DOID:1791		primary peritoneal carcinoma|carcinoma of peritoneum|peritoneum carcinoma	http://purl.obolibrary.org/obo/MONDO_0002113	A rare carcinoma that arises from the peritoneum and resembles the malignant surface epithelial-stromal tumors that arise from the ovary. Serous adenocarcinoma is the most common histologic variant. It affects women almost exclusively. The diagnosis of primary peritoneal carcinoma can be made only if both ovaries are not involved by tumor, or, if the ovaries are involved, the tumor is confined to the ovarian surface without invasion of the ovarian stroma and the peritoneal involvement is greater than the ovarian surface involvement.	DOID:1791|SNOMEDCT:447781009
MONDO:0004774	gonococcal iridocyclitis	biolink:Disease	mondo	DOID:9384|ICD10:A54.32|SCTID:9091006|UMLS:C0153212|ICD9:098.41		Neisseria gonorrhoeae iridocyclitis (disease)|Neisseria gonorrhoeae caused iridocyclitis (disease)	http://purl.obolibrary.org/obo/MONDO_0004774	An iridocyclitis (disease) caused by infection with Neisseria gonorrhoeae.	SNOMEDCT:9091006|DOID:9384|UMLS:C0153212
MONDO:0004777	acute laryngitis	biolink:Disease	mondo	DOID:9396|ICD9:464.0|ICD10:J04.0|ICD9:464.00|ICD9:464.01|SCTID:6655004|NCIT:C26688|COHD:30133|UMLS:C0001327		laryngitis|laryngitis, acute	http://purl.obolibrary.org/obo/MONDO_0004777	An acute inflammatory process affecting the larynx. It is caused by bacteria, viruses, or vocal strain. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness.	SNOMEDCT:6655004|UMLS:C0001327|DOID:9396|NCIT:C26688
MONDO:0002114	pancreas lymphoma	biolink:Disease	mondo	DOID:1792|UMLS:C1335307|NCIT:C5714		pancreas lymphoma|lymphoma of the pancreas|lymphoma of pancreas|pancreatic lymphoma	http://purl.obolibrary.org/obo/MONDO_0002114	A lymphoma that arises from the pancreas with the bulk of the tumor localized to this organ. The vast majority of cases are non-Hodgkin lymphomas of B-cell phenotype and include mucosa-associated lymphoid tissue lymphomas, follicular lymphomas, and diffuse large B-cell lymphomas.	DOID:1792|UMLS:C1335307|NCIT:C5714
MONDO:0004776	obsolete infectious anterior uveitis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004776		
MONDO:0002115	obsolete pancreatic cancer	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002115		
MONDO:0004771	Fuchs' heterochromic uveitis	biolink:Disease	mondo	ICD9:364.21|SCTID:11226001|UMLS:C0016782|ICD10:H20.81|DOID:9375		Fuchs uveitis syndrome|Fuch's heterochromic iridocyclitis|Fuchs' heterochromic cyclitis	http://purl.obolibrary.org/obo/MONDO_0004771	A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface.	SNOMEDCT:11226001|DOID:9375|UMLS:C0016782
MONDO:0004770	exophthalmos (disease)	biolink:Disease	mondo	ICD9:376.30|DOID:9370|MESH:D005094|COHD:436700|HP:0000520|ICD10:H05.20|SCTID:18265008|UMLS:C0015300|NCIT:C118763		proptosis|exophthalmos	http://purl.obolibrary.org/obo/MONDO_0004770	The anterior displacement of the eye within the orbit, giving a bulging appearance.	SNOMEDCT:18265008|NCIT:C118763|NCIT:C87114|MESH:D005094|DOID:9370|UMLS:C0015300
MONDO:0002110	adrenal rest tumor	biolink:Disease	mondo	EFO:1000798|DOID:1786|MESH:D000314|NCIT:C2860|UMLS:C0001630|ICDO:8671/0		adrenal rest neoplasm|adrenal rest tumor	http://purl.obolibrary.org/obo/MONDO_0002110	A benign, testicular or ovarian tumor, derived from adrenal embryonic rest cells. It is composed of hyperplastic adrenal cortical tissue, and it is associated with congenital adrenal hyperplasia.	NCIT:C2860|MESH:D000314|UMLS:C0001630|DOID:1786
MONDO:0004773	iridocyclitis (disease)	biolink:Disease	mondo	ICD10:H20.01|DOID:9383|ICD9:364.2|HP:0001094|ICD9:364.01|UMLS:C0022073|ICD9:364.3|SCTID:77971008|NCIT:C34736		primary iridocyclitis|iridocyclitis	http://purl.obolibrary.org/obo/MONDO_0004773	An inflammation of the iris and the ciliary body	SNOMEDCT:77971008|NCIT:C34736|UMLS:C0022073|DOID:9383
MONDO:0004772	glaucomatocyclitic crisis	biolink:Disease	mondo	ICD9:364.22|UMLS:C0152138|DOID:9378|SCTID:29538005		Posner-Schlossman syndrome|Terrien-Viel syndrome	http://purl.obolibrary.org/obo/MONDO_0004772		SNOMEDCT:29538005|DOID:9378|UMLS:C0152138
MONDO:0002111	obsolete peritoneal mesothelioma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002111		
MONDO:0028742	obsolete dysostosis with brachydactyly without extraskeletal manifestations	biolink:Disease	mondo	Orphanet:498451	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0028742		ORPHA:498451
MONDO:0028741	obsolete overgrowth or tall stature syndrome with skeletal involvement	biolink:Disease	mondo	Orphanet:498448	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0028741		ORPHA:498448
UBERON:0013399	blood vessel layer of choroid	biolink:AnatomicalEntity	mondo			vessel layer of choroid|lamina choroideae vasculosa|lamina vasculosa (choroid)|Sattler's layer|lamina vasculosa of choroid|Haller's layer|outer layer of choroid proper	http://purl.obolibrary.org/obo/UBERON_0013399		
MONDO:0014105	hypogonadotropic hypogonadism 19 with or without anosmia	biolink:Disease	mondo	DOID:0090090|ICD10:E23.0|UMLS:C3808981|OMIM:615269		DUSP6 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 19 with or without anosmia|HH19|hypogonadotropic hypogonadism 19 with or without anosmia; HH19|hypogonadotropic hypogonadism caused by mutation in DUSP6	http://purl.obolibrary.org/obo/MONDO_0014105	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the DUSP6 gene.	DOID:0090090|http://identifiers.org/omim/615269|UMLS:C3808981
MONDO:0016768	rare mucosal lichen planus	biolink:Disease	mondo	ICD10:L43.9|ICD10:L43.8|UMLS:CN226996|ICD10:L43.1|ICD10:L43.3|Orphanet:254373|ICD10:L43.2|ICD10:L43.0	obsoletion_candidate|ordo_group_of_disorders	rare mucosal LP	http://purl.obolibrary.org/obo/MONDO_0016768		UMLS:CN226996|ORPHA:254373
MONDO:0016769	linear lichen planus	biolink:Disease	mondo	SCTID:44509000|ICD10:L43.8|GARD:0011898|Orphanet:254379|UMLS:C0023650	ordo_disease|gard_rare	Blaschkoid lichen planus|llp|Blaschkoid LP|linear LP	http://purl.obolibrary.org/obo/MONDO_0016769	Linear lichen planus (LLP), also referred to as Blaschkoid LP, is a rare type of lichen planus characterized by a linear distribution of lichenoid lesions along the lines of Blaschko, which are embryonic pathways of skin development.	ORPHA:254379|SNOMEDCT:44509000|UMLS:C0023650
MONDO:0014104	cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4	biolink:Disease	mondo	OMIM:615268|UMLS:C3808977		cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4|ATP8A2 dysequilibrium syndrome|cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 4|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 4|cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4|cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4; CAMRQ4|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4|cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4; CAMRQ4|CAMRQ4|dysequilibrium syndrome caused by mutation in ATP8A2	http://purl.obolibrary.org/obo/MONDO_0014104	Any dysequilibrium syndrome in which the cause of the disease is a mutation in the ATP8A2 gene.	http://identifiers.org/omim/615268|UMLS:C3808977
MONDO:0014103	hypogonadotropic hypogonadism 18 with or without anosmia	biolink:Disease	mondo	UMLS:C3808975|OMIM:615267|DOID:0090076|ICD10:E23.0		IL17RD hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 18 with or without anosmia|hypogonadotropic hypogonadism 18 with or without anosmia; HH18|HH18|hypogonadotropic hypogonadism caused by mutation in IL17RD	http://purl.obolibrary.org/obo/MONDO_0014103	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the IL17RD gene.	DOID:0090076|http://identifiers.org/omim/615267|UMLS:C3808975
MONDO:0014102	hypogonadotropic hypogonadism 17 with or without anosmia	biolink:Disease	mondo	UMLS:C3808971|DOID:0090079|OMIM:615266|ICD10:E23.0		hypogonadotropic hypogonadism caused by mutation in SPRY4|hypogonadotropic hypogonadism 17 with or without anosmia|hypogonadotropic hypogonadism 17 with or without anosmia; HH17|HH17|SPRY4 hypogonadotropic hypogonadism	http://purl.obolibrary.org/obo/MONDO_0014102	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SPRY4 gene.	DOID:0090079|http://identifiers.org/omim/615266|UMLS:C3808971
MONDO:0016764	isolated anophthalmia-microphthalmia syndrome	biolink:Disease	mondo	UMLS:CN202019|ICD10:Q11.2|ICD10:Q11.1|ICD10:Q11.0|Orphanet:2542|GARD:0012085	ordo_group_of_disorders	nonsyndromic anophthalmia-microphthalmia syndrome|primitive anophthalmia|microphthalmia-anophthalmia-coloboma spectrum|MAC spectrum|isolated pure microphthalmia|isolated anophthalmia - microphthalmia|clinical anophthalmia	http://purl.obolibrary.org/obo/MONDO_0016764	Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit.	ORPHA:2542|UMLS:CN202019
MONDO:0014109	NGLY1-deficiency	biolink:Disease	mondo	DOID:0060728|OMIM:615273|NCIT:C126746|UMLS:C3808991|ICD10:E77.8|Orphanet:404454|GARD:0012315|SCTID:768846004	clingen|ordo_disease	alacrimia - choreoathetosis - liver dysfunction syndrome|congenital disorder of glycosylation, type IV, formerly|CDG IV|congenital disorder of deglycosylation|congenital disorder of glycosylation, type IV|congenital disorder of deglycosylation; CDDG|CDDG|NGLY1-CDDG|NGLY1 deficiency|congenital disorder of glycosylation type IV|congenital disorder of glycosylation type IV; CDG1V|congenital disorder of deglycosylation;CDDG|deficiency of N-glycanase 1|CDG IV, formerly	http://purl.obolibrary.org/obo/MONDO_0014109	A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities.	http://identifiers.org/omim/615273|SNOMEDCT:768846004|UMLS:C3808991|NCIT:C126746|ORPHA:404454|DOID:0060728
GO:0060456	positive regulation of digestive system process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060456	Any process that increases the frequency, rate or extent of a digestive system process, a physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism.	
MONDO:0016765	19p13.12 microdeletion syndrome	biolink:Disease	mondo	ICD10:Q93.5|Orphanet:254346|SCTID:719597005|GARD:0010991|UMLS:CN202023|UMLS:C4304579	gard_rare|ordo_malformation_syndrome	monosomy 19p13.12|Del(19)(p13.12)|Chromosome19p13.12 microdeletion	http://purl.obolibrary.org/obo/MONDO_0016765	19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.	UMLS:C4304579|ORPHA:254346|SNOMEDCT:719597005|UMLS:CN202023
MONDO:0014108	Fanconi anemia complementation group Q	biolink:Disease	mondo	DOID:0111093|UMLS:C3808988|OMIM:615272		ERCC4 Fanconi anemia|Fanconi anemia, complementation group Q; FANCQ|Fanconi anemia, complementation group Q|Fanconi anemia caused by mutation in ERCC4|Fanconi anemia complementation group type Q|Fanconi Anemia, complementation group type Q|FANCQ	http://purl.obolibrary.org/obo/MONDO_0014108	Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene.	UMLS:C3808988|http://identifiers.org/omim/615272|DOID:0111093
GO:0060457	negative regulation of digestive system process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060457	Any process that decreases the frequency, rate or extent of a digestive system process, a physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism.	
MONDO:0016766	obsolete rare lichen planus	biolink:Disease	mondo	Orphanet:254367|GARD:0012344	obsoletion_candidate|gard_rare|ordo_group_of_disorders	rare lichen planus|rare LP	http://purl.obolibrary.org/obo/MONDO_0016766	Lichen planus (LP) is a common inflammatory dermatosis characterized by the development of pruritic violaceous papules or plaques on mucocutaneous surfaces. Eruptions can involve the face, neck, limbs, back, genitalia, tongue, buccal mucosa, nails, and scalp. LP comprises rare variants affecting the skin and the mucosa. Rare cutaneous LP includes linear LP (referring to blaschkoid and zosteriform distributions of lichenoid lesions), actinic LP, annular LP, atrophic LP, annular atrophic LP, lichen planopilaris (comprising Graham Little-Piccardi-Lassueur syndrome and frontal fibrosing alopecia), lichen planus pigmentosus, and lichen planus pemphigoides. Rare mucosal LP includes vulvovaginal gingival syndrome and LP sialadenitis.	ORPHA:254367
MONDO:0014107	hypogonadotropic hypogonadism 21 with or without anosmia	biolink:Disease	mondo	ICD10:E23.0|OMIM:615271|UMLS:C3808986|DOID:0090093		hypogonadotropic hypogonadism 21 with or without anosmia; HH21|FLRT3 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 21 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in FLRT3|HH21	http://purl.obolibrary.org/obo/MONDO_0014107	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FLRT3 gene.	UMLS:C3808986|DOID:0090093|http://identifiers.org/omim/615271
MONDO:0014106	hypogonadotropic hypogonadism 20 with or without anosmia	biolink:Disease	mondo	ICD10:E23.0|OMIM:615270|UMLS:C3808983|DOID:0090082		hypogonadotropic hypogonadism 20 with or without anosmia; HH20|FGF17 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 20 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in FGF17|HH20	http://purl.obolibrary.org/obo/MONDO_0014106	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF17 gene.	UMLS:C3808983|DOID:0090082|http://identifiers.org/omim/615270
MONDO:0016767	cutaneous lichen planus	biolink:Disease	mondo	ICD10:L43.3|ICD10:L43.2|ICD10:L66.1|ICD10:L43.1|ICD10:L43.0|UMLS:CN226995|ICD10:L43.9|Orphanet:254370|ICD10:L43.8	obsoletion_candidate|ordo_group_of_disorders	rare cutaneous lichen planus|rare cutaneous LP	http://purl.obolibrary.org/obo/MONDO_0016767		ORPHA:254370|UMLS:CN226995
MONDO:0016760	microcephaly-microcornea syndrome, Seemanova type	biolink:Disease	mondo	SCTID:715464002|MESH:C537539|ICD10:Q87.8|Orphanet:2528|GARD:0003627	gard_rare|ordo_malformation_syndrome	microcephaly microcornea syndrome Seemanova type|X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation|Seemanova-Lesny syndrome|Seemanova Lesny syndrome	http://purl.obolibrary.org/obo/MONDO_0016760	Microcephaly-microcornea syndrome, Seemanova type is characterised by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait.	ORPHA:2528|MESH:C537539|MESH:C537536|SNOMEDCT:715464002|UMLS:C2931524|UMLS:C0796151
MONDO:0016761	spondyloepiphyseal dysplasia	biolink:Disease	mondo	ICD9:756.9|DOID:0080027|GARD:0007687|MedDRA:10062920|SCTID:254062008|Orphanet:253|ICD10:Q77.7|Orphanet:252	ordo_group_of_disorders	spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia|spondylo-epi-(meta)-physeal dysplasia|SED and SEMD	http://purl.obolibrary.org/obo/MONDO_0016761	An osteochondrodysplasia that results in abnormalities of bone growth located in vertebral column, located in epiphysis, located in metaphysis.	DOID:0080027|UMLS:C0038015|ORPHA:252|ORPHA:253|SNOMEDCT:254062008|MEDDRA:10062920
MONDO:0016762	microcornea-corectopia-macular hypoplasia syndrome	biolink:Disease	mondo	Orphanet:2535|GARD:0003636|ICD10:Q15.8|MESH:C537551|UMLS:C2931531	ordo_malformation_syndrome	microcornea corectopia macular hypoplasia	http://purl.obolibrary.org/obo/MONDO_0016762	Microcornea-corectopia-macular hypoplasia syndrome is characterised by microcornea, which may also be accompanied by corectopia and macular hypoplasia. It has been described in three individuals from two successive generations of one family.	ORPHA:2535|MESH:C537551|UMLS:C2931531
MONDO:0016763	spondylometaphyseal dysplasia	biolink:Disease	mondo	OMIMPS:184255|ICD10:Q77.8|DC:0000598|Orphanet:254	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016763	Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life.	ORPHA:254
MONDO:0002109	pituitary cancer	biolink:Disease	mondo	UMLS:C0496842|SCTID:363482009|DOID:1785|NCIT:C4769|GARD:0009371|EFO:0005578|ICD10:C75.1		pituitary neoplasm|neoplasm of pituitary gland|malignant neoplasm of pituitary gland|malignant neoplasm of the pituitary gland|malignant pituitary gland neoplasm|malignant pituitary neoplasm|malignant pituitary gland tumor|malignant neoplasm of the pituitary|pituitary gland cancer|malignant neoplasm of pituitary|cancer of pituitary gland|malignant pituitary tumor|pituitary gland neoplasm|malignant tumor of the pituitary gland|malignant tumor of pituitary gland|malignant tumor of the pituitary|malignant tumor of pituitary|pituitary neoplasms, malignant|pituitary cancer|pituitary tumor, malignant	http://purl.obolibrary.org/obo/MONDO_0002109	A primary or metastatic malignant neoplasm affecting the pituitary gland. Representative examples include functioning or non-functioning carcinomas arising from the anterior lobe of the pituitary gland, chordomas, chondrosarcomas, and metastatic carcinomas from the breast, lung, and gastrointestinal tract.	DOID:1785|NCIT:C4769|UMLS:C0496842|SNOMEDCT:363482009
MONDO:0014101	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12	biolink:Disease	mondo	UMLS:C3808964|OMIM:615249|DOID:0111235		muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12; MDDGA12|muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMK|MDDGA12|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12|POMK muscular dystrophy-dystroglycanopathy, type A|Walker-Warburg syndrome or muscle-eye-brain disease, POMK-related	http://purl.obolibrary.org/obo/MONDO_0014101	Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMK gene.	DOID:0111235|http://identifiers.org/omim/615249|UMLS:C3808964
MONDO:0014100	dilated cardiomyopathy 1KK	biolink:Disease	mondo	OMIM:615248|DOID:0110445|ICD10:I42.0	clingen	cardiomyopathy, dilated, 1KK; CMD1KK|dilated cardiomyopathy caused by mutation in MYPN|cardiomyopathy, familial restrictive, 4|cardiomyopathy, dilated, 1KK|MYPN dilated cardiomyopathy|cardiomyopathy, familial hypertrophic, 22|CMD1KK|dilated cardiomyopathy type 1KK|cardiomyopathy, dilated, type 1Kk	http://purl.obolibrary.org/obo/MONDO_0014100	Any dilated cardiomyopathy in which the cause of the disease is a mutation in the MYPN gene.	DOID:0110445|http://identifiers.org/omim/615248
MONDO:0002127	urethral stricture (disease)	biolink:Disease	mondo	MESH:D014525|ICD9:598.9|ICD9:598.8|HP:0012227|DOID:1829|COHD:195590|UMLS:C0041974|SCTID:76618002		urethral stricture	http://purl.obolibrary.org/obo/MONDO_0002127	Narrowing of any part of the urethra. It is characterized by decreased urinary stream and often other obstructive voiding symptoms.	MESH:D014525|SNOMEDCT:76618002|UMLS:C0041974|DOID:1829
MONDO:0002128	mononeuritis multiplex	biolink:Disease	mondo	DOID:1835|GARD:0007056|NCIT:C70938|UMLS:C0151295|COHD:376395|ICD10:G58.7|SCTID:30292005|ICD9:354.5	gard_rare	mononeuritis multiplex	http://purl.obolibrary.org/obo/MONDO_0002128	A painful asymmetric asynchronous sensory and motor peripheral neuropathy involving isolated damage to at least 2 separate nerve areas; associated with (but not limited to) systemic disorders such as diabetes, vasculitis, amyloidosis, direct tumor involvement, polyarteritis nodosa, rheumatoid arthritis, systemic lupus erythematosus, and paraneoplastic syndromes. It also may be associated with Lyme disease, Wegener's granulomatosis, Sjogren syndrome, cryoglobulinemia, hypereosinophilia, temporal arteritis, scleroderma, sarcoidosis, leprosy, acute viral hepatitis A, and acquired immunodeficiency syndrome.	UMLS:C0151295|NCIT:C70938|SNOMEDCT:30292005|DOID:1835
MONDO:0004789	cholangitis	biolink:Disease	mondo	NCIT:C26718|ICD9:576.1|UMLS:C0008311|MESH:D002761|ICD10:K83.0|DOID:9446|SCTID:82403002|COHD:195856		biliary tree inflammation|inflammation of biliary tree|cholangitis|biliary tract infection	http://purl.obolibrary.org/obo/MONDO_0004789	An acute or chronic inflammatory process affecting the biliary tract.	MESH:D002761|UMLS:C0008311|DOID:9446|NCIT:C26718|SNOMEDCT:82403002
MONDO:0002129	bone cancer	biolink:Disease	mondo	MESH:D001859|ICD9:170.9|NCIT:C4016|DOID:184|CSP:2019-1041|SCTID:428281000|COHD:443564		cancer of skeletal element|bone cancer, NOS|cancer of bone|bone tumour|cancer of the bone|bone cancer|malignant bone tumour|malignant tumor of bone|malignant tumor of the bone|bone neoplasm|osseous cancer|CA - bone cancer|malignant osseous tumor|skeletal element cancer|malignant neoplasm of bone|malignant neoplasm of skeletal element|malignant bone tumor|neoplasm of bone|malignant neoplasm of the bone|malignant bone neoplasm|malignant skeletal element neoplasm|malignant osseous neoplasm|osseous tumor	http://purl.obolibrary.org/obo/MONDO_0002129	A primary or metastatic malignant neoplasm affecting the bone or articular cartilage.	DOID:184|MESH:D001859|SNOMEDCT:428281000|NCIT:C4016
MONDO:0002123	calcinosis	biolink:Disease	mondo	SCTID:6595006|DOID:182|MESH:D002114|NCIT:C3672|ICD9:275.49|EFO:0003837|HP:0003761		calcification|pathologic calcification|deposit(s), calcium|pathologically calcified structure|calcium deposit(s)|macrocalcification	http://purl.obolibrary.org/obo/MONDO_0002123	Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer.	NCIT:C3672|DOID:182|SNOMEDCT:6595006|MESH:D002114
MONDO:0004786	chronic cholangitis	biolink:Disease	mondo	DOID:9439|SCTID:71912000|NCIT:C35335|UMLS:C0267918		cholangitis, chronic	http://purl.obolibrary.org/obo/MONDO_0004786	Cholangitis that is persistent and long-standing.	NCIT:C35335|UMLS:C0267918|DOID:9439|SNOMEDCT:71912000
MONDO:0002124	secondary lacrimal atrophy	biolink:Disease	mondo	DOID:1822|ICD10:H04.15|SCTID:75068001|COHD:376980|ICD9:375.14		consecutive atrophy of lacrimal gland|secondary lacrimal atrophy|secondary atrophy of lacrimal gland	http://purl.obolibrary.org/obo/MONDO_0002124		SNOMEDCT:75068001|DOID:1822
MONDO:0004785	blepharitis	biolink:Disease	mondo	ICD10:H01.0|MESH:D001762|ICD9:373.00|COHD:378425|NCIT:C112183|SCTID:41446000|ICD9:373.4|DOID:9423|ICD9:373.8|ICD9:373.0|ICD10:H01.00|ICD9:373.9|UMLS:C0005741|ICD10:H01.9		inflammation of eyelid|eyelid inflammation	http://purl.obolibrary.org/obo/MONDO_0004785	Inflammation of the eyelids near the eyelashes.	MESH:D001762|SNOMEDCT:41446000|NCIT:C112183|DOID:9423|UMLS:C0005741
MONDO:0004788	cervix squamous papilloma	biolink:Disease	mondo	NCIT:C6342|DOID:9445|UMLS:C1336900		squamous papilloma of the cervix uteri|cervix uteri squamous papilloma|squamous papilloma of cervix|squamous papilloma of the cervix|squamous papilloma of cervix uteri|cervix squamous papilloma|squamous papilloma of uterine cervix|squamous papilloma of the uterine cervix|uterine cervix squamous papilloma|cervical squamous papilloma	http://purl.obolibrary.org/obo/MONDO_0004788	A papilloma that arises from the squamous epithelium of the cervix.	NCIT:C6342|DOID:9445|UMLS:C1336900
MONDO:0028737	biliary atresia disorder	biolink:Disease	mondo	HP:0005912|Orphanet:498345	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0028737		ORPHA:498345
MONDO:0002125	status epilepticus	biolink:Disease	mondo	NCIT:C85079|MESH:D013226|EFO:0008526|ICD10:G41|SCTID:230456007|UMLS:C0038220|DOID:1824|GARD:0010191	gard_rare	grand mal status|SE|generalized convulsive status epilepticus|GCSE	http://purl.obolibrary.org/obo/MONDO_0002125	A life-threatening situation in which the brain is in a continuous state of seizure.	MESH:D013226|SNOMEDCT:230456007|UMLS:C0038220|NCIT:C85079|DOID:1824
MONDO:0004787	cervical mullerian papilloma	biolink:Disease	mondo	UMLS:C1516427|DOID:9442|NCIT:C40215		cervical Muellerian papilloma|cervical Müllerian papilloma|cervical Mullerian papilloma	http://purl.obolibrary.org/obo/MONDO_0004787	A rare, benign, papillary neoplasm that arises from the cervix. It is characterized by the presence of a fibrovascular core covered by mucinous epithelial cells.	DOID:9442|UMLS:C1516427|NCIT:C40215
MONDO:0002126	obsolete childhood absence epilepsy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002126		
MONDO:0004782	diabetes insipidus	biolink:Disease	mondo	DOID:9409|NCIT:C43263|ICD10:E23.2|ICD9:253.5|MESH:D003919|GARD:0011934|COHD:30968|UMLS:C0011848|SCTID:15771004			http://purl.obolibrary.org/obo/MONDO_0004782	A disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. It may also be drug-related.	UMLS:C0011848|NCIT:C43263|SNOMEDCT:15771004|DOID:9409|MESH:D003919
MONDO:0002120	neuroendocrine carcinoma	biolink:Disease	mondo	SCTID:253000007|NCIT:C3773|UMLS:C0206695|ICDO:8246/3|MESH:D018278|DOID:1800		neuroendocrine cancer, NOS|NEC|neuroendocrine carcinoma|neuroendocrine cancer	http://purl.obolibrary.org/obo/MONDO_0002120	A malignant neuroendocrine neoplasm composed of cells containing secretory granules that stain positive for NSE and chromogranin. The neoplastic cells are often round and form clusters or trabecular sheets. Representative examples are small cell carcinoma, large cell neuroendocrine carcinoma, and Merkel cell carcinoma.	UMLS:C0206695|MESH:D018278|SNOMEDCT:253000007|DOID:1800|NCIT:C3773
MONDO:0004781	acute myocardial infarction	biolink:Disease	mondo	DOID:9408|UMLS:C0155626|COHD:312327|ICD9:410.9|ICD9:410.90|NCIT:C35204|ICD9:410.82|ICD9:410.81|ICD9:410.92|ICD9:410.80|ICD9:410.91|ICD10:I21.3|ICD10:I21.9|EFO:0008583|SCTID:57054005|ICD9:410		myocardial infarction (disease), acute|acute myocardial infarction (disease)	http://purl.obolibrary.org/obo/MONDO_0004781	Necrosis of the myocardium, as a result of interruption of the blood supply to the area. It is characterized by a severe and rapid onset of symptoms that may include chest pain, often radiating to the left arm and left side of the neck, dyspnea, sweating, and palpitations.	SNOMEDCT:57054005|UMLS:C0155626|DOID:9408|NCIT:C35204
MONDO:0004784	allergic asthma	biolink:Disease	mondo	DOID:9415|ICD10:J45|UMLS:C0155877|SCTID:389145006|ICD9:493.0		extrinsic asthma with status asthmaticus|extrinsic asthma with acute exacerbation|allergic form of asthma|atopic asthma	http://purl.obolibrary.org/obo/MONDO_0004784	A asthma with a basis in a pathological type I hypersensitivity reaction.	SNOMEDCT:389145006|DOID:9415|UMLS:C0155877
MONDO:0002121	mononeuritis simplex	biolink:Disease	mondo	SCTID:32595002|ICD9:355.9|UMLS:C0235880|COHD:372309|DOID:1802		mononeuritis	http://purl.obolibrary.org/obo/MONDO_0002121	Neuritis of a single nerve.	SNOMEDCT:32595002|UMLS:C0235880|DOID:1802
MONDO:0002122	neuritis	biolink:Disease	mondo	ICD9:729.2|SCTID:128192007|UMLS:C0027813|MESH:D009443|DOID:1803|COHD:4027396|NCIT:C116381|SCTID:84299009		peripheral neuritis|nerve inflammation	http://purl.obolibrary.org/obo/MONDO_0002122	A neuropathy arising from inflammation of one or more nerves.	UMLS:C0027813|MESH:D009443|NCIT:C116381|SNOMEDCT:84299009|SNOMEDCT:128192007|DOID:1803
MONDO:0004783	obsolete panhypopituitarism	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004783		
MONDO:0004780	strictly posterior acute myocardial infarction	biolink:Disease	mondo	DOID:9407|ICD9:410.60			http://purl.obolibrary.org/obo/MONDO_0004780		DOID:9407
MONDO:0016757	malignant triton tumor	biolink:Disease	mondo	ICDO:9561/3|ICD9:171.9|DOID:6707|NCIT:C4335|Orphanet:252212|UMLS:C0334616|SCTID:404040002	ordo_clinical_subtype	MPNST with rhabdomyosarcoma|malignant neoplasm of the peripheral nerve sheath with rhabdomyosarcoma|malignant neoplasm of peripheral nerve sheath with rhabdomyosarcoma|MPNST with rhabdomyosarcomatous differentiation|MPNST with rhabdomyoblastic differentiation|malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differenciation|malignant peripheral nerve sheath tumor with rhabdomyosarcoma|malignant tumor of the peripheral nerve sheath with rhabdomyosarcoma|MTT|malignant tumor of peripheral nerve sheath with rhabdomyosarcoma|malignant Triton tumour|malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0016757	Malignant triton tumor (MTT) is a rare aggressive subtype of malignant peripheral nerve sheath tumor (MPNST) characterized histopathologically by focal rhabdomyoblastic differentiation.	NCIT:C4335|UMLS:C0334616|DOID:6707|ORPHA:252212|SNOMEDCT:404040002
MONDO:0016758	microcephaly-brain defect-spasticity-hypernatremia syndrome	biolink:Disease	mondo	GARD:0003607|ICD10:G98|UMLS:CN202009|Orphanet:2523	ordo_malformation_syndrome|gard_rare	microcephaly brain defect spasticity hypernatremia|Franek-Bocker-Kahlen syndrome|microcephaly - brain defect - spasticity - hypernatremia	http://purl.obolibrary.org/obo/MONDO_0016758	Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. Only one familial case with three affected siblings reported and there have been no further descriptions in the literature since 1986.	UMLS:CN202009|ORPHA:2523
MONDO:0016759	pontocerebellar hypoplasia type 2	biolink:Disease	mondo	GARD:0010705|MESH:C548070|NCIT:C124057|Orphanet:2524|SCTID:715463008|UMLS:C2932714|ICD10:Q04.3	ordo_malformation_syndrome|gard_rare	PCH2|progressive microcephaly from birth extrapyramidal dyskinesia chorea epilepsy	http://purl.obolibrary.org/obo/MONDO_0016759	Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty.	ORPHA:2524|MESH:C548070|SNOMEDCT:715463008|UMLS:C2932714|NCIT:C124057
MONDO:0200001	obsolete chromate resistance	biolink:Disease	mondo	OMIM:118840		CHROMATE RESISTANCE; CHR|CHR	http://purl.obolibrary.org/obo/MONDO_0200001		http://identifiers.org/omim/118840
MONDO:0200000	uterine ligament adenosarcoma	biolink:Disease	mondo	NCIT:C102570|UMLS:C3640823		adenosarcoma of uterine ligament|uterine ligament adenosarcoma	http://purl.obolibrary.org/obo/MONDO_0200000	An extremely rare adenosarcoma that arises from the uterine ligament.	NCIT:C102570|UMLS:C3640823
MONDO:0016753	obsolete benign schwannoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016753		
MONDO:0016754	vestibular schwannoma (disease)	biolink:Disease	mondo	HP:0009588|Orphanet:252175|MedDRA:10000523|ICD10:D33.3	ordo_clinical_subtype	acoustic neurilemoma|acoustic neuroma|acoustic neurinoma|vestibular schwannoma	http://purl.obolibrary.org/obo/MONDO_0016754	Vestibular schwannoma is a rare tumor of the posterior fossa originating in the Schwann cells of the vestibular transitional zone of the vestibulocochlear nerve that can be benign, small, slow growing and asymptomatic or large, faster growing and aggressive and potentially fatal, presenting with symptoms of hearing and balance impairment, vertigo, ataxia, headache and fifth, sixth or seventh cranial nerve dysfunction and facial numbness.	MEDDRA:10000523|UMLS:C0027859|ORPHA:252175
MONDO:0016755	neurofibroma	biolink:Disease	mondo	SCTID:404029005|UMLS:C0027830|EFO:0000622|NCIT:C3272|ICD9:215.9|MedDRA:10029267|GARD:0007191|MESH:D009455|ICDO:9540/0|ONCOTREE:NFIB|DOID:962|Orphanet:252183	gard_rare|ordo_disease	neurofibroma (WHO grade I)|neurofibroma|neurofibroma, benign|NFIB	http://purl.obolibrary.org/obo/MONDO_0016755	An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors.	NCIT:C3272|SNOMEDCT:404029005|UMLS:C0027830|MESH:D009455|DOID:962|MEDDRA:10029267|ORPHA:252183
MONDO:0016756	inherited nervous system cancer-predisposing syndrome	biolink:Disease	mondo	Orphanet:252190|UMLS:CN202004	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016756		UMLS:CN202004|ORPHA:252190
MONDO:0016750	microcephaly-cleft palate syndrome	biolink:Disease	mondo	SCTID:719394002|MESH:C535622|Orphanet:2521|ICD10:Q87.8|UMLS:C2930954|GARD:0008623	ordo_malformation_syndrome	microcephaly cleft palate autosomal dominant|Halal syndrome|microcephaly-cleft palate-abnormal retinal pigmentation syndrome	http://purl.obolibrary.org/obo/MONDO_0016750	Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983.	UMLS:C2930954|ORPHA:2521|SNOMEDCT:719394002|MESH:C535622
MONDO:0016751	malignant perineurioma	biolink:Disease	mondo	Orphanet:252128|UMLS:C1266188|ICDO:9571/3|SCTID:761958009|NCIT:C66845	ordo_disease	malignant peripheral nerve sheath tumor with perineurial differentiation|perineurial malignant peripheral nerve sheath tumor|perineurioma, malignant	http://purl.obolibrary.org/obo/MONDO_0016751	A very rare malignant tumor with morphologic features similar to those of benign perineurioma of soft tissue along with hypercellularity, nuclear atypia, hyperchromasia, and a high mitotic rate.	NCIT:C66845|UMLS:C1266188|ORPHA:252128|SNOMEDCT:761958009
MONDO:0016752	benign peripheral nerve sheath tumor	biolink:Disease	mondo	Orphanet:252131|UMLS:CN202000	ordo_group_of_disorders	BPNST	http://purl.obolibrary.org/obo/MONDO_0016752		ORPHA:252131|UMLS:CN202000
UBERON:0001425	pectoral lymphatic vessel	biolink:AnatomicalEntity	mondo			PL	http://purl.obolibrary.org/obo/UBERON_0001425		
UBERON:0013411	cranial cavity	biolink:AnatomicalEntity	mondo			intracranial space|cavitas cranii|intracranial cavity	http://purl.obolibrary.org/obo/UBERON_0013411	Anatomical cavity that is the lumen of the skull and contains the brain.	
PATO:0001693	increased viscosity	biolink:OntologyClass	mondo			high viscosity	http://purl.obolibrary.org/obo/PATO_0001693	A viscosity which relatively high.	
PATO:0001694	decreased viscosity	biolink:OntologyClass	mondo			low viscosity	http://purl.obolibrary.org/obo/PATO_0001694	A viscosity which relatively low.	
UBERON:0001435	carpal bone	biolink:AnatomicalEntity	mondo			carpal skeleton bone|carpal|bone of carpus|carpus bone	http://purl.obolibrary.org/obo/UBERON_0001435	A bone that is part of the carpal skeleton. Examples: scaphoid, lunate, capitate[cjm].	
UBERON:0001434	skeletal system	biolink:AnatomicalEntity	mondo			skeleton system|set of all bones and joints|Skelettsystem	http://purl.obolibrary.org/obo/UBERON_0001434	Anatomical system that is a multi-element, multi-tissue anatomical cluster that consists of the skeleton and the articular system.	
UBERON:0001419	skin of limb	biolink:AnatomicalEntity	mondo			limb zone of skin|zone of skin of limb|limb skin	http://purl.obolibrary.org/obo/UBERON_0001419	A zone of skin that is part of a limb [Automatically generated definition].	
UBERON:0001418	skin of thorax	biolink:AnatomicalEntity	mondo			upper body skin|thorax zone of skin|thorax skin|thoracic skin|zone of skin of thorax	http://purl.obolibrary.org/obo/UBERON_0001418	A zone of skin that is part of a thorax [Automatically generated definition].	
UBERON:0001415	skin of pelvis	biolink:AnatomicalEntity	mondo			pelvis skin|zone of skin of pelvis|pelvic skin|pelvis zone of skin	http://purl.obolibrary.org/obo/UBERON_0001415	A zone of skin that is part of a pelvis [Automatically generated definition].	
UBERON:0001417	skin of neck	biolink:AnatomicalEntity	mondo			neck zone of skin|neck skin|zone of skin of neck (volume)|zone of skin of neck|neck (volume) zone of skin	http://purl.obolibrary.org/obo/UBERON_0001417	A zone of skin that is part of a neck [Automatically generated definition].	
UBERON:0001416	skin of abdomen	biolink:AnatomicalEntity	mondo			abdomen skin|zone of skin of abdomen|skin of abdomen proper|abdominal skin|abdomen zone of skin	http://purl.obolibrary.org/obo/UBERON_0001416	A zone of skin that is part of an abdomen [Automatically generated definition].	
HP:0030186	Kinetic tremor	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:30721006|MSH:D014202|SNOMEDCT_US:609558009|MSH:D020329|UMLS:C0270736|UMLS:C0234376		Essential tremor	http://purl.obolibrary.org/obo/HP_0030186	Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor.	
CHEBI:85638	haloacetate(1-)	biolink:ChemicalSubstance	mondo			haloacetate (1-)|a haloacetate	http://purl.obolibrary.org/obo/CHEBI_85638	A monocarboxylic acid anion resulting from the deprotonation of the carboxy group of a haloacetic acid.	
UBERON:0001422	facial lymphatic vessel	biolink:AnatomicalEntity	mondo			buccal lymphatic vessel|face lymph vessel|FL|lymphatic vessel of face|lymph vessel of face|face lymphatic vessel	http://purl.obolibrary.org/obo/UBERON_0001422	A lymphatic vessel that is part of a face [Automatically generated definition].	
UBERON:0001421	pectoral girdle region	biolink:AnatomicalEntity	mondo			upper limb girdle|shoulder girdle|pectoral region|cingulum membri superioris|girdle - pectoral|cingulum membri superioris|pectoral girdle	http://purl.obolibrary.org/obo/UBERON_0001421	An organism subdivision that includes the pectoral girdle skeleton and associated soft tissue. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). Examples: There are only two instances in an organism, right and left pectoral girdle regions.	
UBERON:0001424	ulna	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0001424	The major postaxial endochondral bone in the anterior zeugopod[Phenoscape].	
UBERON:0001423	radius bone	biolink:AnatomicalEntity	mondo			radius	http://purl.obolibrary.org/obo/UBERON_0001423	The major preaxial endochondral bone in the anterior zeugopod[Phenoscape].	
HP:0030191	Abnormal peripheral nervous system synaptic transmission	biolink:PhenotypicFeature	mondo	UMLS:C4021046		Abnormal PNS synaptic transmission	http://purl.obolibrary.org/obo/HP_0030191	An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system.	
CHEBI:36688	heterotricyclic compound	biolink:ChemicalSubstance	mondo			heterotricyclic compound|heterotricyclic compounds|heterotricyclic compounds	http://purl.obolibrary.org/obo/CHEBI_36688		
CHEBI:36685	chlorocarboxylic acid	biolink:ChemicalSubstance	mondo			chlorocarboxylic acids	http://purl.obolibrary.org/obo/CHEBI_36685	A carboxylic acid containing at least one chloro group.	
CHEBI:36683	organochlorine compound	biolink:ChemicalSubstance	mondo			organochlorides|an organochlorine molecule|chloroorganic compounds|organochloride|organochloride compound|organochlorine compounds|organochlorine compound|chlororganische Verbindungen|organochloride compounds	http://purl.obolibrary.org/obo/CHEBI_36683	An organochlorine compound is a compound containing at least one carbon-chlorine bond.	
CHEBI:36684		biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_36684		
CHEBI:36699	corticosteroid hormone	biolink:ChemicalSubstance	mondo			adrenal cortex hormones|corticosteroid hormones	http://purl.obolibrary.org/obo/CHEBI_36699	Any of a class of steroid hormones that are produced in the adrenal cortex.	
NCBITaxon:84527	Metagonimus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_84527		
UBERON:0013455	spheno-petrosal fissure	biolink:AnatomicalEntity	mondo			sphenopetrosal fissure|fissura sphenopetrosa	http://purl.obolibrary.org/obo/UBERON_0013455	The sphenopetrosal fissure (or sphenopetrosal suture) is the cranial suture between the sphenoid bone and the petrous portion of the temporal bone. It is in the middle cranial fossa.	
PATO:0001655	osmolarity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0001655	A concentration quality inhering in a bearer by virtue of the bearer's amount of osmoles of solute per liter of solution.	
NCBITaxon:84526	Heterophyidae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_84526		
PATO:0001656	decreased osmolarity	biolink:OntologyClass	mondo			low osmolarity	http://purl.obolibrary.org/obo/PATO_0001656	A osmolarity which is relatively low.	
NCBITaxon:84529	Metagonimus yokogawai	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_84529		
PATO:0001657	increased osmolarity	biolink:OntologyClass	mondo			high osmolarity	http://purl.obolibrary.org/obo/PATO_0001657	A osmolarity which is relatively high.	
UBERON:0001471	skin of prepuce of penis	biolink:AnatomicalEntity	mondo			penis foreskin|preputial skin|foreskin of penis	http://purl.obolibrary.org/obo/UBERON_0001471	the loose fold of skin that covers the penis	
UBERON:0001470	glenohumeral joint	biolink:AnatomicalEntity	mondo			joint of shoulder|humeral joint|articulatio humeri|shoulder joint|humeroscapular joint	http://purl.obolibrary.org/obo/UBERON_0001470	The glenohumeral joint, commonly known as the shoulder joint, is a multiaxial synovial ball and socket joint and involves articulation between the glenoid fossa of the scapula (shoulder blade) and the head of the humerus (upper arm bone). [WP,unvetted].	
CHEBI:73690	erythrose 4-phosphate/phosphoenolpyruvate family amino acid	biolink:ChemicalSubstance	mondo			erythrose 4-phosphate family amino acids|erythrose 4-phosphate and phosphoenolpyruvate family amino acids|phosphoenolpyruvate family amino acid|phosphoenolpyruvate family amino acids|erythrose 4-phosphate and phosphoenolpyruvate family amino acid|erythrose 4-phosphate family amino acid|erythrose 4-phosphate/phosphoenolpyruvate family amino acids	http://purl.obolibrary.org/obo/CHEBI_73690	An L-alpha-amino acid which is biosynthesised from erythrose 4-phosphate and phosphoenolpyruvate (i.e. phenylalanine, tyrosine, and tryptophan). A closed class.	
UBERON:0001479	sesamoid bone	biolink:AnatomicalEntity	mondo			ossa sesamoidea|sesamoid	http://purl.obolibrary.org/obo/UBERON_0001479	A sesamoid element that is composed of bone tissue.	
UBERON:0001473	lymphatic vessel	biolink:AnatomicalEntity	mondo			vas lymphaticum|lymph vessel	http://purl.obolibrary.org/obo/UBERON_0001473	A vessel that contains or conveys lymph, that originates as an interfibrillar or intercellular cleft or space in a tissue or organ, and that if small has no distinct walls or walls composed only of endothelial cells and if large resembles a vein in structure[BTO].	
UBERON:0001472	vaginal venous plexus	biolink:AnatomicalEntity	mondo			venous vaginal plexus|plexus venosus vaginalis	http://purl.obolibrary.org/obo/UBERON_0001472	The vaginal plexuses are placed at the sides of the vagina; they communicate with the uterine, vesical, and hemorrhoidal plexuses, and are drained by the vaginal veins, one on either side, into the hypogastric veins. [WP,unvetted].	
UBERON:0001474	bone element	biolink:AnatomicalEntity	mondo			bones|bone organ|bone	http://purl.obolibrary.org/obo/UBERON_0001474	Skeletal element that is composed of bone tissue.	
MONDO:0004603	collagenopathy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004603		
MONDO:0004602	obsolete polymyalgia rheumatica	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004602		
MONDO:0004605	chronic ulcer of skin	biolink:Disease	mondo	ICD9:707.9|ICD10:L98.4|COHD:134441|ICD9:707.8|EFO:0007066|UMLS:C0157738|SCTID:19429009|DOID:8549|ICD9:707		indolent ulcer (morphologic abnormality)|callous ulcer (morphologic abnormality)|callous ulcer|indolent ulcer	http://purl.obolibrary.org/obo/MONDO_0004605		UMLS:C0157738|DOID:8549|SNOMEDCT:19429009
MONDO:0004604	Hodgkin's lymphoma, lymphocytic-histiocytic predominance	biolink:Disease	mondo	ONCOTREE:LRCHL|DOID:8543|NCIT:C6913|ICDO:9651/3|ICD10:C81.4|ICD9:201.4|SCTID:118607005		lymphocyte rich classical Hodgkin lymphoma|Hodgkin's disease, lymphocyte predominance [obs]|lymphocyte rich classical Hodgkin's disease|lymphocyte-rich Classic Hodgkin lymphoma|lymphocyte rich Hodgkin lymphoma|Hodgkin lymphoma, lymphocytic-histiocytic predominance|lymphocyte rich Hodgkin's disease|LRCHL|Hodgkin's disease, lymphocyte predominance|lymphocyte-rich classical Hodgkin's lymphoma|Hodgkin lymphoma, lymphocyte-rich|lymphocyte rich classical Hodgkin's lymphoma|lymphocyte-rich classical Hodgkin lymphoma|lymphocyte rich Hodgkin's lymphoma	http://purl.obolibrary.org/obo/MONDO_0004604	A subtype of classical Hodgkin lymphoma with scattered Hodgkin and Reed-Sternberg cells and a nodular or less often diffuse cellular background consisting of small lymphocytes and with an absence of neutrophils and eosinophils. (WHO, 2008)	NCIT:C6913|SNOMEDCT:118607005|DOID:8543
UBERON:0001459	skin of external ear	biolink:AnatomicalEntity	mondo			external ear zone of skin|outer ear zone of skin|zone of skin of auricular region|auricular region zone of skin|zone of skin of external ear|external ear skin|zone of skin of auricular region of head|ear skin|zone of skin of outer ear|auricular region of head zone of skin	http://purl.obolibrary.org/obo/UBERON_0001459	A zone of skin that is part of a external ear [Automatically generated definition].	
UBERON:0001458	skin of lip	biolink:AnatomicalEntity	mondo			lip zone of skin|lip skin|zone of skin of lip|skin of lips	http://purl.obolibrary.org/obo/UBERON_0001458	A zone of skin that is part of a lip [Automatically generated definition].	
MONDO:0004601	ulcer of lower limbs	biolink:Disease	mondo	EFO:0007068|SCTID:419193008|DOID:8529|ICD9:707.13		Ulcer of calf|Ulcer of ankle|Ulcer of thigh|Ulcer of heel and midfoot	http://purl.obolibrary.org/obo/MONDO_0004601	Ulcer of lower limbs is a chronic ulcer of skin where the ulcer is not a decubitus ulcer.	DOID:8529|SNOMEDCT:419193008
MONDO:0004600	monocytic leukemia	biolink:Disease	mondo	ICD9:206.90|ICD9:206.81|ICD10:C93.Z0|ICD10:C93.Z|ICD9:206.80|ICD9:206.91|ICD9:206.8|COHD:321526|DOID:8527|SCTID:188744006		schilling's leukemia	http://purl.obolibrary.org/obo/MONDO_0004600		SNOMEDCT:188744006|DOID:8527
CHEBI:131927	dicarboxylic acids and O-substituted derivatives	biolink:ChemicalSubstance	mondo			dicarboxylic acids and derivatives	http://purl.obolibrary.org/obo/CHEBI_131927	A class of carbonyl compound encompassing dicarboxylic acids and any derivatives obtained by substitution of either one or both of the carboxy hydrogens.	
UBERON:0001460	arm	biolink:AnatomicalEntity	mondo			brachium|upper extremity	http://purl.obolibrary.org/obo/UBERON_0001460	The part of the forelimb extending from the shoulder to the autopod[cjm].	
HGNC:8108	OCRL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8108		
HGNC:8109	ODC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8109		
UBERON:0001466	pedal digit	biolink:AnatomicalEntity	mondo			foot digit|pes digit|pedal digit (phalangeal portion) plus soft tissue|toe|digitipedis|hindlimb digit|hind_digit|digiti pedis|hind digit|digitus pedis|digit of foot|digiti pedis|digit of terminal segment of lower limb	http://purl.obolibrary.org/obo/UBERON_0001466	A digit that is part of a pes (foot).	
UBERON:0001465	knee	biolink:AnatomicalEntity	mondo			knee region	http://purl.obolibrary.org/obo/UBERON_0001465	A segment of the hindlimb that corresponds to the joint connecting a hindlimb stylopod and zeugopod.	
UBERON:0001468	intervertebral joint	biolink:AnatomicalEntity	mondo			vertebral joint|inter-centrum joint|inter-vertebral joint|intervertebral symphysis|joint of vertebral body	http://purl.obolibrary.org/obo/UBERON_0001468	The joint between adjacent vertebral bodies. May be composed of the nucleus pulposus, annular ligament, and the anterior and posterior longitudinal ligaments.	
UBERON:0001467	shoulder	biolink:AnatomicalEntity	mondo			articulatio humeri|shoulder region	http://purl.obolibrary.org/obo/UBERON_0001467	A subdivision of the pectoral complex consisting of the structures in the region of the shoulder joint (which connects the humerus, scapula and clavicle).	
UBERON:0001461	elbow	biolink:AnatomicalEntity	mondo			elbow limb segment|elbow region|cubital region|articulatio cubiti	http://purl.obolibrary.org/obo/UBERON_0001461	The elbow is the region surrounding the elbow-joint-the ginglymus or hinge joint in the middle of the arm. Three bones form the elbow joint: the humerus of the upper arm, and the paired radius and ulna of the forearm. The bony prominence at the very tip of the elbow is the olecranon process of the ulna, and the inner aspect of the elbow is called the antecubital fossa. [WP,unvetted,human-specific].	
HGNC:8101	OCA2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8101		
UBERON:0001464	hip	biolink:AnatomicalEntity	mondo			regio coxae|hip region|coxa	http://purl.obolibrary.org/obo/UBERON_0001464	The hip region is located lateral to the gluteal region (i.e. the buttock), inferior to the iliac crest, and overlying the greater trochanter of the thigh bone. In adults, three of the bones of the pelvis have fused into the hip bone which forms part of the hip region. The hip joint, scientifically referred to as the acetabulofemoral joint (art. coxae), is the joint between the femur and acetabulum of the pelvis and its primary function is to support the weight of the body in both static (e.g. standing) and dynamic (e.g. walking or running) postures. [WP,modified].	
HGNC:8104	OCLN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8104		
UBERON:0001463	manual digit 1	biolink:AnatomicalEntity	mondo			manual digit I|digit 1 of fore-paw|thumb|finger 1|digitus I|forelimb dewclaw|first digit of hand|manual digit 1|fore limb digit 1|first finger|alula|fore digit I|hand digit 1|pollex|digitus 1|digit 1 of manus|digitus primus|hand digit 1|digitus primus [I]	http://purl.obolibrary.org/obo/UBERON_0001463	1st (preaxial) digit of the manus[Wikipedia].	
CHEBI:24662	hydroxy-amino acid	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_24662	A non-proteinogenic alpha-amino acid bearing one or more hydroxy groups at unspecified positions.	
UBERON:0001448	metatarsal bone	biolink:AnatomicalEntity	mondo			ossa metatarsalia|metatarsal|ossa metatarsi	http://purl.obolibrary.org/obo/UBERON_0001448	The metatarsus or metatarsal bones are a group of five long bones in the pes located between the tarsal bones of the hind- and mid-pes and the phalanges of the toes. Lacking individual names, the metatarsal bones are numbered from the medial side (side of big toe): the first, second, third, fourth, and fifth metatarsal. The metatarsals are analogous to the metacarpal bones of the manus. [WP,unvetted].	
UBERON:0001447	tarsal bone	biolink:AnatomicalEntity	mondo			bony tarsus|ossa tarsalia|ossa tarsi|ankle bone|bone of ankle|bone of tarsus|bone of tarsal skeleton|hind mesopodium|tarsal|tarsus osseus	http://purl.obolibrary.org/obo/UBERON_0001447	A bone that is part of the tarsal skeleton. Examples: calcaneus, talus, centralia.	
UBERON:0001449	phalanx of pes	biolink:AnatomicalEntity	mondo			toe phalanx|pedal phalanx|phalanges of hind digit|digital bone of pes|phalanx of pes|phalanx of foot digit|digitus pedis phalanx|phalanx of toe|bone of toe|foot phalanx|phalanx of hind digit|phalanx of digit of foot|phalanx of digitus pedis|foot digit phalanx	http://purl.obolibrary.org/obo/UBERON_0001449	A phalanx that is part of a hindlimb autopod[Automatically generated definition].	
CHEBI:83039	crustacean metabolite	biolink:ChemicalSubstance	mondo			crustacean metabolites	http://purl.obolibrary.org/obo/CHEBI_83039	An animal metabolite produced by arthropods such as crabs, lobsters, crayfish, shrimps and krill.	
HGNC:28296	DYNC2I2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28296		
PATO:0001673	cystic	biolink:OntologyClass	mondo			cysts	http://purl.obolibrary.org/obo/PATO_0001673	Structure quality that is the presence of closed epithelium bounded capsules containing one or more liquid or solid organism substances.	
GO:0060610	mesenchymal cell differentiation involved in mammary gland development	biolink:OntologyClass	mondo			mammary gland mesenchymal cell differentiation	http://purl.obolibrary.org/obo/GO_0060610	The process in which a relatively unspecialized cell acquires specialized features of a mammary gland mesenchymal cell. Mammary gland mesenchymal cells form a loosely connected network of cells that surround the mammary ducts.	
HP:0030159	Cervical polyp	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:123841004|MSH:D002583|SNOMEDCT_US:65576009|UMLS:C0007855|UMLS:C0007873		Cervical tumor	http://purl.obolibrary.org/obo/HP_0030159	Abnormal growth of tissue projecting from a mucous membrane of the endocervix.	
PATO:0001671	increased distribution	biolink:OntologyClass	mondo			high distribution	http://purl.obolibrary.org/obo/PATO_0001671	A distribution which is relatively high.	
PATO:0001672	decreased distribution	biolink:OntologyClass	mondo			low distribution	http://purl.obolibrary.org/obo/PATO_0001672	A distribution which is relatively low.	
UBERON:0001457	skin of eyelid	biolink:AnatomicalEntity	mondo			blepharon zone of skin|eyelid zone of skin|zone of skin of blepharon|eyelid skin|zone of skin of eyelid	http://purl.obolibrary.org/obo/UBERON_0001457	A zone of skin that is part of a eyelid [Automatically generated definition].	
UBERON:0001456	face	biolink:AnatomicalEntity	mondo			visage|facia/facies	http://purl.obolibrary.org/obo/UBERON_0001456	A subdivision of the head that has as parts the layers deep to the surface of the anterior surface, including the mouth, eyes, and nose (when present). In vertebrates, this includes the facial skeleton and structures superficial to the facial skeleton (cheeks, mouth, eyeballs, skin of face, etc).	
UBERON:0001450	calcaneus	biolink:AnatomicalEntity	mondo			calcaneum|heel bone|os calcis|os tarsi fibulare|fibulare|calcaneal bone|calcaneus bone|calcanei	http://purl.obolibrary.org/obo/UBERON_0001450	The postaxial bone of the proximal tarsals series[Phenoscape].	
CHEBI:24676	hydroxybenzoic acid	biolink:ChemicalSubstance	mondo			hydroxybenzoic acid|hydroxybenzoic acids	http://purl.obolibrary.org/obo/CHEBI_24676	Any benzoic acid carrying one or more phenolic hydroxy groups on the benzene ring.	
CHEBI:24675	hydroxybenzoate	biolink:ChemicalSubstance	mondo			hydroxybenzoates	http://purl.obolibrary.org/obo/CHEBI_24675	Any benzoate derivative carrying a single carboxylate group and at least one hydroxy substituent.	
UBERON:0001437	epiphysis	biolink:AnatomicalEntity	mondo			long bone epiphysis|epiphyses|bone epiphysis|end of long bone	http://purl.obolibrary.org/obo/UBERON_0001437	The head of a long bone that articulates with a neighboring skeletal element and is separated from the shaft by the epiphyseal plate until bone growth stops. At that time, the plate disappears and the head and shaft are united[MESH,modified].	
UBERON:0001436	phalanx of manus	biolink:AnatomicalEntity	mondo			phalanx of digitus manus|phalanges of fore digit|bone of finger|finger phalanx|phalanx of hand|manual phalanx|phalanx of hand digit|digitus manus phalanx|phalanx of fore digit|phalanx of finger|digital bone of manus|hand phalanx|phalanx of digit of hand|hand digit phalanx|phalanx of manual digit	http://purl.obolibrary.org/obo/UBERON_0001436	A phalanx that is part of a forelimb autopod[Automatically generated definition].	
UBERON:0001438	metaphysis	biolink:AnatomicalEntity	mondo			diaphyseal end of long bone|long bone metaphysis|metaphyses	http://purl.obolibrary.org/obo/UBERON_0001438	Zone of long bone that is between the epiphysis and diaphysis. Subdivision of diaphysis which forms the proximal or distal end of diaphysis next to the epiphysis; together with diaphysis proper, it constitutes the diaphysis. Examples: proximal metaphysis of humerus, distal metaphysis of femur.[FMA]	
PATO:0001688	increased elevation	biolink:OntologyClass	mondo			elevated|high elevation	http://purl.obolibrary.org/obo/PATO_0001688	An elevation which is relatively high.	
PATO:0001689	decreased elevation	biolink:OntologyClass	mondo			low elevation	http://purl.obolibrary.org/obo/PATO_0001689	An elevation which is relatively low.	
PATO:0001687	elevation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0001687	A positional quality inhering in a bearer by virtue of the bearer's vertical distance of a point above or below a reference surface.	
HP:0030163	Abnormal vascular physiology	biolink:PhenotypicFeature	mondo	UMLS:C4022603			http://purl.obolibrary.org/obo/HP_0030163	Abnormality of vascular function.	
UBERON:0001444	subdivision of head	biolink:AnatomicalEntity	mondo			head region|head subdivision|region of head	http://purl.obolibrary.org/obo/UBERON_0001444		
UBERON:0001443	chest	biolink:AnatomicalEntity	mondo			front of thorax|anterolateral part of thorax|ventral part of thoracic region|thorax|thoracic body wall|pectus	http://purl.obolibrary.org/obo/UBERON_0001443	Subdivision of trunk proper, which is demarcated from the neck by the plane of the superior thoracic aperture and from the abdomen internally by the inferior surface of the diaphragm and externally by the costal margin and associated with the thoracic vertebral column and ribcage and from the back of the thorax by the external surface of the posterolateral part of the rib cage, the anterior surface of the thoracic vertebral column and the posterior axillary lines; together with the abdomen and the perineum, it constitutes the trunk proper[FMA].	
UBERON:0001446	fibula	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0001446	The major postaxial endochondral bone in the posterior zeugopod[Phenoscape].	
GO:0060606	tube closure	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060606	Creation of the central hole of a tube in an anatomical structure by sealing the edges of an epithelial fold.	
UBERON:0001445	skeleton of pes	biolink:AnatomicalEntity	mondo			posterior autopodium skeleton|foot skeleton|pes skeleton|set of bones of foot|pes|posterior autopodium|foot region skeleton|skeleton of foot|pedal skeleton	http://purl.obolibrary.org/obo/UBERON_0001445	Subdivision of skeleton that is the collection of all skeletal elements in a pes, which is the distal section of the posterior hindlimb skeleton consisting of the mesopodium, the metapodium and the acropodium (e.g. including the ankle, sole, and toes)[Phenoscape].	
UBERON:0001440	forelimb skeleton	biolink:AnatomicalEntity	mondo			skeleton of free upper limb|set of bones of upper limb|upper limb skeleton|free upper limb skeleton|ossa membri superioris|skeleton of pectoral limb|bones of upper limb|fore limb skeleton|wing skeleton|skeleton of upper limb|skeleton of forelimb|pectoral limb skeleton|forelimb skeleton	http://purl.obolibrary.org/obo/UBERON_0001440	The collection of all skeletal elements in a free forelimb region. Excludes the pectoral girdle	
HGNC:8124	OGDH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8124		
UBERON:0001442	skeleton of manus	biolink:AnatomicalEntity	mondo			hand skeleton|anterior autopodium|set of bones of hand|fore autopod skeleton|anterior autopodium skeleton|ossa manus|forelimb autopod skeleton|hand region skeleton|manual skeleton|bones of hand|skeleton of hand|manus skeleton|manus	http://purl.obolibrary.org/obo/UBERON_0001442	Subdivision of skeleton that is the collection of all skeletal elements in a manus, which is the distal section of the anterior forelimb skeleton consisting of the mesopodium, the metapodium and the acropodium (e.g. including the wrist, palm, and fingers)[Phenoscape].	
UBERON:0001441	hindlimb skeleton	biolink:AnatomicalEntity	mondo			skeleton of free lower limb|set of bones of lower limb|lower limb skeleton|bones of lower limb|free lower limb skeleton|skeleton of lower limb|ossa membri inferioris|hind-limb skeleton|hindlimb skeleton|hind limb skeleton	http://purl.obolibrary.org/obo/UBERON_0001441	Subdivision of skeleton consisting of all skeletal elements in an hindlimb region.	
HGNC:8125	OGG1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8125		
GO:0033008	positive regulation of mast cell activation involved in immune response	biolink:OntologyClass	mondo			positive regulation of mast cell activation during immune response	http://purl.obolibrary.org/obo/GO_0033008	Any process that activates or increases the frequency, rate, or extent of mast cell activation as part of an immune response.	
GO:0033007	negative regulation of mast cell activation involved in immune response	biolink:OntologyClass	mondo			negative regulation of mast cell activation during immune response	http://purl.obolibrary.org/obo/GO_0033007	Any process that stops, prevents, or reduces the frequency, rate, or extent of mast cell activation as part of an immune response.	
HGNC:16290	TRIM33	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16290		
GO:0008046	axon guidance receptor activity	biolink:OntologyClass	mondo			receptor activity involved in axon guidance	http://purl.obolibrary.org/obo/GO_0008046	Combining with an extracellular messenger and transmitting the signal from one side of the membrane to the other to results in a change in cellular activity involved in axon guidance.	
CHEBI:58095	L-phenylalanine zwitterion	biolink:ChemicalSubstance	mondo			phenylalanine|L-phenylalanine|(2S)-2-ammonio-3-phenylpropanoate|(2S)-2-azaniumyl-3-phenylpropanoate	http://purl.obolibrary.org/obo/CHEBI_58095	An amino acid zwitterion arising from transfer of a proton from the carboxy to the amino group of L-phenylalanine; major species at pH 7.3.	
GO:0033006	regulation of mast cell activation involved in immune response	biolink:OntologyClass	mondo			regulation of mast cell activation during immune response	http://purl.obolibrary.org/obo/GO_0033006	Any process that modulates the frequency, rate, or extent of mast cell activation as part of an immune response.	
GO:0033005	positive regulation of mast cell activation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0033005	Any process that activates or increases the frequency, rate, or extent of mast cell activation.	
GO:0033004	negative regulation of mast cell activation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0033004	Any process that stops, prevents, or reduces the frequency, rate, or extent of mast cell activation.	
GO:0033003	regulation of mast cell activation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0033003	Any process that modulates the frequency, rate, or extent of mast cell activation.	
HGNC:16297	UPB1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16297		
GO:0033001	Fc-gamma receptor III complex	biolink:OntologyClass	mondo			immunoglobulin G receptor complex|IgG receptor complex|FcgRIII complex	http://purl.obolibrary.org/obo/GO_0033001	A protein complex composed of an Fc-gamma RIII alpha chain and an Fc-epsilon RI gamma chain dimer with or without an Fc-epsilon RI beta chain and additional signaling components. The complex functions primarily as an activating receptor for IgG.	
HP:0005120	Abnormal cardiac atrium morphology	biolink:PhenotypicFeature	mondo	UMLS:C4025246		Abnormality of cardiac atrium morphology|Abnormality of heart atrium	http://purl.obolibrary.org/obo/HP_0005120	Any structural abnormality of a cardiac atrium.	
HGNC:28287	ALG14	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28287		
HP:0005132	Pericardial constriction	biolink:PhenotypicFeature	mondo	UMLS:C0240709			http://purl.obolibrary.org/obo/HP_0005132	Compression of the heart caused by rigid, thickened, or fused pericardial membranes.	
NCBITaxon:118655	Oropouche virus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_118655		
CHEBI:58072	carbon monoxide(1+)	biolink:ChemicalSubstance	mondo			methylidyneoxonium|CO(1+)|methylidyneoxidanium	http://purl.obolibrary.org/obo/CHEBI_58072	Conjugate acid of carbon monoxide arising from protonation of the carbon; major species at pH 7.3.	
HGNC:16280	TRIM36	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16280		
GO:0035637	multicellular organismal signaling	biolink:OntologyClass	mondo			multicellular organismal signalling	http://purl.obolibrary.org/obo/GO_0035637	The transfer of information occurring at the level of a multicellular organism.	
GO:0008037	cell recognition	biolink:OntologyClass	mondo			recognition of surroundings by cell	http://purl.obolibrary.org/obo/GO_0008037	The process in which a cell in an organism interprets its surroundings.	
HGNC:28261	TBCK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28261		
HP:0007773	Vitreoretinopathy	biolink:PhenotypicFeature	mondo	UMLS:C1850109		Vitreoretinal abnormality|Vitreoretinal degeneration	http://purl.obolibrary.org/obo/HP_0007773	Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment.	
HGNC:16287	NFU1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16287		
HGNC:16257	TUBB1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16257		
HGNC:16252	SUN5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16252		
HGNC:16255	TGM6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16255		
HGNC:16262	YAP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16262		
GO:0008016	regulation of heart contraction	biolink:OntologyClass	mondo			regulation of cardiac contraction	http://purl.obolibrary.org/obo/GO_0008016	Any process that modulates the frequency, rate or extent of heart contraction. Heart contraction is the process in which the heart decreases in volume in a characteristic way to propel blood through the body.	
GO:0008015	blood circulation	biolink:OntologyClass	mondo			hemolymph circulation	http://purl.obolibrary.org/obo/GO_0008015	The flow of blood through the body of an animal, enabling the transport of nutrients to the tissues and the removal of waste products.	
HGNC:28249	PHYKPL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28249		
NCBITaxon:299467	Leptotrombidium deliense	organism taxon	mondo	GC_ID:1		scrub typhus mite	http://purl.obolibrary.org/obo/NCBITaxon_299467		
HGNC:16268	PNPLA6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16268		
HGNC:16266	SLC19A3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16266		
HGNC:28213	PIGY	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28213		
HGNC:28216	COX14	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28216		
CHEBI:61655	steroid saponin	biolink:ChemicalSubstance	mondo			steroid glycosides|steroidal glycoside|glycosteroid|steryl glycosides|steryl glycoside|glycosteroids|steroidal glycosides|steroid glycoside|sterol glycoside|glycosyl steroid|glycosyl steroids|sterol glycosides|steroid saponins	http://purl.obolibrary.org/obo/CHEBI_61655	Any saponin derived from a hydroxysteroid.	
HGNC:16232	COX4I2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16232		
HGNC:16243	MYLK2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16243		
NCBITaxon:11620	Lassa mammarenavirus	organism taxon	mondo	GC_ID:1		Lassa virus	http://purl.obolibrary.org/obo/NCBITaxon_11620		
HGNC:8091	OAT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8091		
MONDO:0002057	breast leiomyoma	biolink:Disease	mondo	NCIT:C40399|UMLS:C1511317|DOID:1623		breast leiomyoma|leiomyoma of breast	http://purl.obolibrary.org/obo/MONDO_0002057	A well-circumscribed benign smooth muscle neoplasm arising from the breast. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOID:1623|NCIT:C40399|UMLS:C1511317
MONDO:0002058	breast adenoma	biolink:Disease	mondo	UMLS:C1328385|DOID:1625|NCIT:C40382		breast adenoma|Ademoma - breast	http://purl.obolibrary.org/obo/MONDO_0002058	A benign, well circumscribed neoplasm that arises from the breast. Representative examples include apocrine adenoma, tubular adenoma, and pleomorphic adenoma.	DOID:1625|NCIT:C40382|UMLS:C1328385
MONDO:0002059	obsolete breast duct papilloma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002059		
NCBITaxon:11623	Lymphocytic choriomeningitis mammarenavirus	organism taxon	mondo	GC_ID:1		LCMV|Lymphocytic choriomeningitis virus|lymphocytic choriomeningitis virus LCMV	http://purl.obolibrary.org/obo/NCBITaxon_11623		
MONDO:0002053	obsolete hypoglycemic coma	biolink:Disease	mondo	ICD10:E15|COHD:380688|ICD9:251.0|UMLS:C0020617|HP:0001325|DOID:1607|SCTID:267384006			http://purl.obolibrary.org/obo/MONDO_0002053		DOID:1607|UMLS:C0020617|SNOMEDCT:267384006
UBERON:2001053	future internal carotid artery	biolink:AnatomicalEntity	mondo			PICA|primitive internal carotid artery	http://purl.obolibrary.org/obo/UBERON_2001053		
MONDO:0002054	obsolete breast cancer	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002054		
MONDO:0002055	benign eccrine breast spiradenoma	biolink:Disease	mondo	DOID:1616|UMLS:C1332492|NCIT:C5193		benign eccrine spiradenoma of breast|benign eccrine spiradenoma of the breast|benign eccrine breast spiradenoma|benign breast eccrine spiradenoma	http://purl.obolibrary.org/obo/MONDO_0002055	A very rare, benign sweat gland neoplasm that affects the breast. It is characterized by the proliferation of basaloid epithelial cells.	NCIT:C5193|DOID:1616|UMLS:C1332492
NCBITaxon:11628	Machupo mammarenavirus	organism taxon	mondo	GC_ID:1		Machupo virus	http://purl.obolibrary.org/obo/NCBITaxon_11628		
MONDO:0002056	breast fibroadenoma	biolink:Disease	mondo	SCTID:254847007|DOID:1618|NCIT:C3744|ICD10:D24|ONCOTREE:FA|UMLS:C0206650|UMLS:C0178421|ICDO:9010/0|EFO:1000254|UMLS:C0346158|MESH:D018226		fibroadenoma|fibroadenoma, benign|cellular fibroadenoma|fibroadenoma of breast|fibroadenoma of the breast|juvenile fibroadenoma of breast|juvenile fibroadenoma (morphologic abnormality)|breast fibroadenoma|juvenile fibroadenoma|FA|Complex fibroadenoma of breast	http://purl.obolibrary.org/obo/MONDO_0002056	A benign tumor of the breast characterized by the presence of stromal and epithelial elements. It presents as a painless, solitary, slow growing, firm, and mobile mass. It is the most common benign breast lesion. It usually occurs in women of childbearing age. The majority of fibroadenomas do not recur after complete excision. A slightly increased risk of developing cancer within fibroadenomas or in the breast tissue of patients previously treated for fibroadenomas has been reported.	MESH:D018226|DOID:1618|UMLS:C0346158|UMLS:C0178421|NCIT:C3744|SNOMEDCT:254847007|UMLS:C0206650
GO:0060591	chondroblast differentiation	biolink:OntologyClass	mondo			chondrocyte progenitor cell differentiation	http://purl.obolibrary.org/obo/GO_0060591	The process in which a mesenchymal cell, acquires specialized structural and/or functional features of a chondroblast. Differentiation includes the processes involved in commitment of a cell to a chondroblast fate. A chondroblast is a precursor cell to chondrocytes.	
MONDO:0002050	depressive disorder	biolink:Disease	mondo	SCTID:35489007|NCIT:C2982|MFOMD:0000013|MESH:D003866|UMLS:CN236658|ICD9:311|DOID:1596|ICD10:F32|ICD10:F33.9|ICD10:F32.9		melancholias|depression|syndromes, depressive|syndrome, depressive|melancholia|mental depression	http://purl.obolibrary.org/obo/MONDO_0002050	A melancholy feeling of sadness and despair.	MESH:D003866|NCIT:C2982|SNOMEDCT:35489007|UMLS:CN236658|DOID:1596
HP:0007707	Congenital aphakia	biolink:PhenotypicFeature	mondo	MSH:C537786|UMLS:C1853230		Lens agenesis	http://purl.obolibrary.org/obo/HP_0007707	Absence of the crystalline lens of the eye as a result of a developmental defect.	
MONDO:0002051	integumentary system disease	biolink:Disease	mondo	SCTID:128598002|DOID:16|UMLS:C1290011		disorder of integumental system|disorder of integument|disorder of integumental system|integumental system disease|disease or disorder of integumental system|disease of integumental system|integumentary disease|integumental system disease or disorder	http://purl.obolibrary.org/obo/MONDO_0002051	A disease involving the integumental system.	UMLS:C1290011|DOID:16|SNOMEDCT:128598002
MONDO:0002052	lymphadenitis (disease)	biolink:Disease	mondo	ICD10:I88.9|HP:0002840|UMLS:C0024205|ICD10:L04|UMLS:C0157705|MESH:D008199|DOID:1602|UMLS:C0154304|ICD10:I88.1|ICD9:289.1|ICD9:683|ICD10:L04.9|SCTID:41174002|NCIT:C26821		chronic lymphadenitis|Inflammation of lymph node|acute adenitis|lymph node inflammation|acute lymphadenitis|inflammation of lymph node|lymphadenitis|chronic adenitis|lymph gland infection|adenitis|lymph nodeitis	http://purl.obolibrary.org/obo/MONDO_0002052	Acute or chronic inflammation of one or more lymph nodes. It is usually caused by an infectious process.	UMLS:C0154304|DOID:1602|NCIT:C26821|MESH:D008199|UMLS:C0024205|UMLS:C0157705|SNOMEDCT:41174002
MONDO:0014049	urofacial syndrome 2	biolink:Disease	mondo	OMIM:615112|UMLS:C3554520		LRIG2 Ochoa syndrome|urofacial syndrome 2; UFS2|Ochoa syndrome caused by mutation in LRIG2|urofacial syndrome 2|UFS2|urofacial syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0014049	Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene.	UMLS:C3554520|http://identifiers.org/omim/615112
MONDO:0014048	Cowden syndrome 6	biolink:Disease	mondo	OMIM:615109|UMLS:C3554519		Cowden syndrome 6|Cowden syndrome 6; CWS6|AKT1 Cowden disease|CWS6|Cowden disease caused by mutation in AKT1|Cowden syndrome type 6	http://purl.obolibrary.org/obo/MONDO_0014048	Any Cowden disease in which the cause of the disease is a mutation in the AKT1 gene.	http://identifiers.org/omim/615109|UMLS:C3554519
MONDO:0014047	Cowden syndrome 5	biolink:Disease	mondo	OMIM:615108|UMLS:C3554518		PIK3CA Cowden disease|Cowden disease caused by mutation in PIK3CA|Cowden syndrome 5|Cowden syndrome 5; CWS5|Cowden syndrome type 5|CWS5	http://purl.obolibrary.org/obo/MONDO_0014047	Any Cowden disease in which the cause of the disease is a mutation in the PIK3CA gene.	http://identifiers.org/omim/615108|UMLS:C3554518
HP:0007700	Ocular anterior segment dysgenesis	biolink:PhenotypicFeature	mondo	UMLS:C0266525|SNOMEDCT_US:65075004		Anterior chamber cleavage disorder|Anterior segment developmental abnormality|Anterior chamber mesodermal anomalies|Anterior segment mesencyhmal dysgenesis|Anterior chamber malformation|Anterior segment dysgenesis|Anterior segment ocular dysgenesis|Anterior chamber cleavage defect	http://purl.obolibrary.org/obo/HP_0007700	Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin.	
MONDO:0041656	ST-elevation myocardial infarction	biolink:Disease	mondo	SCTID:401303003|EFO:0008585		ST segment elevation myocardial infarction|STEMI|acute-ST segment elevation myocardial infarction	http://purl.obolibrary.org/obo/MONDO_0041656	A very serious type of heart attack during which one of the heart’s major arteries (one of the arteries that supplies oxygen and nutrient-rich blood to the heart muscle) is blocked. ST-segment elevation is an abnormality detected on the 12-lead ECG.	SNOMEDCT:401303003
MONDO:0014042	left ventricular noncompaction 7	biolink:Disease	mondo	UMLS:C3554496|OMIM:615092		MIB1 left ventricular noncompaction|left ventricular noncompaction type 7|left ventricular noncompaction 7|LVNC7|left ventricular noncompaction caused by mutation in MIB1|left ventricular noncompaction 7; LVNC7	http://purl.obolibrary.org/obo/MONDO_0014042	Any left ventricular noncompaction in which the cause of the disease is a mutation in the MIB1 gene.	http://identifiers.org/omim/615092|UMLS:C3554496
MONDO:0014041	autism, susceptibility to, 19	biolink:Disease	mondo	OMIM:615091	predisposition	AUTS19|autism, susceptibility to, type 19|autism, susceptibility to, 19; AUTS19|susceptibility to autism 19|autism, susceptibility to, 19	http://purl.obolibrary.org/obo/MONDO_0014041		http://identifiers.org/omim/615091
MONDO:0014040	autosomal recessive osteopetrosis 8	biolink:Disease	mondo	UMLS:C3554478|OMIM:615085|NCIT:C150556|DOID:0110940		SNX10 autosomal recessive osteopetrosis|SNX10 autosomal recessive malignant osteopetrosis|osteopetrosis, autosomal recessive 8|OPTB8|autosomal recessive osteopetrosis caused by mutation in SNX10|autosomal recessive malignant osteopetrosis caused by mutation in SNX10|osteopetrosis, autosomal recessive 8; OPTB8|osteopetrosis, autosomal recessive type 8|autosomal recessive osteopetrosis type 8	http://purl.obolibrary.org/obo/MONDO_0014040	Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the SNX10 gene.	NCIT:C150556|UMLS:C3554478|DOID:0110940|http://identifiers.org/omim/615085
MONDO:0014046	Cowden syndrome 4	biolink:Disease	mondo	UMLS:C3554517|OMIM:615107		Cowden syndrome 4|KLLN Cowden disease|Cowden syndrome 4; CWS4|Cowden syndrome type 4|Cowden disease caused by mutation in KLLN|CWS4	http://purl.obolibrary.org/obo/MONDO_0014046	Any Cowden disease in which the cause of the disease is a mutation in the KLLN gene.	http://identifiers.org/omim/615107|UMLS:C3554517
MONDO:0014045	Cowden syndrome 3	biolink:Disease	mondo	UMLS:C3554516|OMIM:615106		CWS3|Cowden syndrome 3|Cowden disease caused by mutation in SDHD|Cowden syndrome 3; CWS3|Cowden syndrome type 3|SDHD Cowden disease	http://purl.obolibrary.org/obo/MONDO_0014045	Any Cowden disease in which the cause of the disease is a mutation in the SDHD gene.	http://identifiers.org/omim/615106|UMLS:C3554516
MONDO:0014044	dysmorphism-conductive hearing loss-heart defect syndrome	biolink:Disease	mondo	SCTID:763279007|OMIM:615102|UMLS:C3554774|ICD10:Q87.8|Orphanet:289553	ordo_malformation_syndrome	TYSHCHENKO syndrome	http://purl.obolibrary.org/obo/MONDO_0014044	#64258;at nares, Cupid's bow upper lip vermilion, and small, low-set, posteriorly rotated ears), in addition to cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability.	ORPHA:289553|SNOMEDCT:763279007|http://identifiers.org/omim/615102|UMLS:C3554774
MONDO:0014043	microcephalic primordial dwarfism due to ZNF335 deficiency	biolink:Disease	mondo	ICD10:Q87.1|OMIM:615095|DOID:0070294|UMLS:C3554499|UMLS:C4510378|Orphanet:329228|SCTID:724141003	ordo_malformation_syndrome	MCPH10|microcephalic primordial dwarfism, Walsh type|microcephaly 10, primary, autosomal recessive; MCPH10|primary autosomal recessive microcephaly 10|microcephaly 10, primary, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0014043	Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.	http://identifiers.org/omim/615095|UMLS:C4510378|DOID:0070294|ORPHA:329228|SNOMEDCT:724141003|UMLS:C3554499
MONDO:0002068	female breast lower-inner quadrant cancer	biolink:Disease	mondo	DOID:1649|SCTID:188153009|ICD10:C50.31|UMLS:C0153551|ICD9:174.3|ICD10:C50.3		malignant neoplasm of lower-inner quadrant of female breast	http://purl.obolibrary.org/obo/MONDO_0002068		DOID:1649|SNOMEDCT:188153009|UMLS:C0153551
MONDO:0002069	female breast axillary tail cancer	biolink:Disease	mondo	UMLS:C0153554|ICD10:C50.61|SCTID:188156001|ICD10:C50.6|ICD9:174.6|DOID:1650		malignant neoplasm of axillary tail of breast|malignant axillary tail of breast neoplasm|axillary tail of breast cancer|cancer of axillary tail of breast|malignant neoplasm of axillary tail of female breast	http://purl.obolibrary.org/obo/MONDO_0002069	A cancer that involves the UBERON:0035289.	DOID:1650|UMLS:C0153554|SNOMEDCT:188156001
NCBITaxon:11632	Retroviridae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_11632		
MONDO:0002064	breast angiomatosis	biolink:Disease	mondo	DOID:1637|UMLS:C1511284|NCIT:C40381			http://purl.obolibrary.org/obo/MONDO_0002064	A benign diffuse vascular proliferation in the breast. It is characterized by the formation of capillary-sized and cavernous vascular spaces.	DOID:1637|NCIT:C40381|UMLS:C1511284
MONDO:0002065	benign breast adenomyoepithelioma	biolink:Disease	mondo	NCIT:C5144|UMLS:C1332477|DOID:1641		benign adenomyoepithelioma of the breast|benign breast adenomyoepithelioma|breast adenomyoepithelioma, benign|benign adenomyoepithelioma of breast	http://purl.obolibrary.org/obo/MONDO_0002065	A benign, nodular tumor that arises from the breast parenchyma. It is characterized by the proliferation of myoepithelial cells around spaces that are lined by epithelial cells. Occasionally, adenomyoepitheliomas may undergo malignant transformation.	DOID:1641|UMLS:C1332477|NCIT:C5144
MONDO:0002066	breast adenomyoepithelioma	biolink:Disease	mondo	ICDO:8983/0|UMLS:C1510795|ONCOTREE:BRAME|DOID:1642|NCIT:C6899		breast adenomyoepithelioma with malignant change|breast adenomyoepithelioma|BRAME|malignant adenomyoepithelioma of breast|adenomyoepithelioma of the breast	http://purl.obolibrary.org/obo/MONDO_0002066	A usually benign tumor arising from the breast. It is characterized by the proliferation of cells with myoepithelial differentiation around spaces which are lined by epithelial cells. Rarely, the epithelial and/or myoepithelial cells may undergo malignant transformation. Cases with malignant transformation may follow an aggressive clinical course, including recurrences and local and distant metastases.	UMLS:C1510795|NCIT:C6899|DOID:1642
MONDO:0002067	female breast upper-inner quadrant cancer	biolink:Disease	mondo	DOID:1647|SCTID:188152004|ICD9:174.2|UMLS:C0153550|ICD10:C50.2		malignant neoplasm of upper-inner quadrant of female breast	http://purl.obolibrary.org/obo/MONDO_0002067		DOID:1647|UMLS:C0153550|SNOMEDCT:188152004
MONDO:0002060	intraductal papilloma	biolink:Disease	mondo	UMLS:C0206713|NCIT:C3785|ICDO:8503/0|MESH:D018300|DOID:1627		ductal papilloma|duct adenoma|duct papilloma|intraductal papilloma (morphologic abnormality)|intraductal papilloma	http://purl.obolibrary.org/obo/MONDO_0002060	An intraluminal papillary epithelial neoplasm arising within the ducts. Representative examples are the intraductal breast papilloma and the salivary gland intraductal papilloma.	NCIT:C3785|UMLS:C0206713|MESH:D018300|DOID:1627
MONDO:0002061	intraductal papillary breast neoplasm	biolink:Disease	mondo	NCIT:C36090|UMLS:C1334252|DOID:1628		intraductal papillary breast neoplasm	http://purl.obolibrary.org/obo/MONDO_0002061	A benign or malignant papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by epithelial proliferations. This category includes intraductal papilloma and intraductal papillary carcinoma.	NCIT:C36090|UMLS:C1334252|DOID:1628
MONDO:0002062	breast myofibroblastoma	biolink:Disease	mondo	NCIT:C40397|UMLS:C1511320|DOID:1629		breast myofibroblastoma	http://purl.obolibrary.org/obo/MONDO_0002062	A myofibroblastoma occurring in the breast of both women and men. It presents as a slowly growing mass.	NCIT:C40397|UMLS:C1511320|DOID:1629
MONDO:0002063	breast papillomatosis	biolink:Disease	mondo	DOID:1634|NCIT:C6977|UMLS:C1332636		papillomatosis of the breast|papillomatosis of breast|breast papillomatosis	http://purl.obolibrary.org/obo/MONDO_0002063	A benign breast neoplasm characterized by the proliferation of multiple papillomas.	UMLS:C1332636|DOID:1634|NCIT:C6977
MONDO:0014039	mitochondrial DNA depletion syndrome 11	biolink:Disease	mondo	Orphanet:352447|DOID:0080129|ICD10:G71.3|OMIM:615084|UMLS:C3554462	ordo_disease	MTDPS11|PEO-myopathy-emaciation syndrome|mitochondrial DNA depletion syndrome caused by mutation in MGME1|mtDNA maintenance syndrome due to MGME1 deficiency|mitochondrial DNA depletion syndrome type 11|mitochondrial DNA maintenance syndrome due to MGME1 deficiency|mitochondrial DNA depletion syndrome 11; MTDPS11|progressive external ophthalmoplegia-myopathy-emaciation syndrome|MGME1 mitochondrial DNA depletion syndrome|mitochondrial DNA depletion syndrome 11	http://purl.obolibrary.org/obo/MONDO_0014039	Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.	UMLS:C3554462|http://identifiers.org/omim/615084|ORPHA:352447|DOID:0080129
MONDO:0014038	colorectal cancer, susceptibility to, 12	biolink:Disease	mondo	OMIM:615083	predisposition	colorectal cancer caused by mutation in POLE|CRCS12|colorectal cancer, susceptibility to, 12; CRCS12|colorectal cancer, susceptibility to, type 12|POLE colorectal cancer|susceptibility to colorectal cancer 12|colorectal cancer, susceptibility to, 12|colorectal cancer, susceptibility to, on chromosome 12Q24	http://purl.obolibrary.org/obo/MONDO_0014038	Any colorectal cancer in which the cause of the disease is a mutation in the POLE gene.	http://identifiers.org/omim/615083
MONDO:0014037	spermatogenic failure 11	biolink:Disease	mondo	UMLS:C3554453|DOID:0070180|OMIM:615081		spermatogenic failure 11; SPGF11|azoospermia caused by mutation in KLHL10|spermatogenic failure 11|SPGF11|KLHL10 azoospermia|spermatogenic failure type 11	http://purl.obolibrary.org/obo/MONDO_0014037	Any azoospermia in which the cause of the disease is a mutation in the KLHL10 gene.	UMLS:C3554453|http://identifiers.org/omim/615081|DOID:0070180
MONDO:0014036	Alzheimer disease 17	biolink:Disease	mondo	DOID:0110049|UMLS:C3554452|OMIM:615080		AD17|Alzheimer disease 17, late onset|Alzheimer disease 17, late-onset|Alzheimer disease 17; AD17|Alzheimer's disease type 17|Alzheimer's disease 17|Alzheimer disease 17	http://purl.obolibrary.org/obo/MONDO_0014036	An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2.	UMLS:C3554452|http://identifiers.org/omim/615080|DOID:0110049
MONDO:0016698	ependymoma	biolink:Disease	mondo	GARD:0006353|ONCOTREE:EPM|ICD10:D43.2|MedDRA:10014967|UMLS:C0014474|NCIT:C3017|MESH:D004806|UMLS:CN201941|DOID:4844|ICDO:9391/3|Orphanet:251636	ordo_histopathological_subtype	tanycytic ependymoma (histologic variant)|ependymoma, benign|papillary ependymoma (histologic variant)|WHO grade II ependymal neoplasm|benign ependymoma|ependymoma|ependymoma, NOS|WHO grade II ependymal tumor|ependymoma, familial|clear cell ependymoma (histologic variant)|WHO grade II ependymal tumor|epithelial ependymoma	http://purl.obolibrary.org/obo/MONDO_0016698	A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes. (WHO)	ORPHA:251636|NCIT:C3017|MESH:D004806|MEDDRA:10014967|UMLS:C0014474|UMLS:CN201941|DOID:4844
MONDO:0016699	myxopapillary ependymoma	biolink:Disease	mondo	ONCOTREE:MPE|DOID:5075|UMLS:C0205769|Orphanet:251643|ICDO:9394/1|GARD:0010633|ICD10:D43.2|NCIT:C3697	gard_rare|ordo_histopathological_subtype	myxopapillary ependymoma|ependymoma, benign|myxopapillary ependymoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0016699	Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population.	UMLS:C0205769|ORPHA:251643|NCIT:C3697|DOID:5075
MONDO:0014031	microcephalic primordial dwarfism, Alazami type	biolink:Disease	mondo	Orphanet:319671|OMIM:615071|ICD10:Q87.1|UMLS:C3554439	ordo_malformation_syndrome	ALAZS|Alazami syndrome; ALAZS|Alazami syndrome|facial dysmorphism, intellectual disability, and primordial dwarfism	http://purl.obolibrary.org/obo/MONDO_0014031	Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety.	http://identifiers.org/omim/615071|ORPHA:319671|UMLS:C3554439
MONDO:0016694	obsolete Pituicytoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016694		
MONDO:0014030	primary ciliary dyskinesia 20	biolink:Disease	mondo	ICD10:Q34.8|UMLS:C3540844|DOID:0110625|OMIM:615067		primary ciliary dyskinesia type 20|CCDC114 primary ciliary dyskinesia|ciliary dyskinesia, primary, 20|primary ciliary dyskinesia 20 with or without situs inversus|ciliary dyskinesia, primary, 20, with or without situs inversus|primary ciliary dyskinesia caused by mutation in CCDC114|ciliary dyskinesia, primary, 20; CILD20|CILD20|ciliary dyskinesia, primary, type 20	http://purl.obolibrary.org/obo/MONDO_0014030	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC114 gene.	http://identifiers.org/omim/615067|UMLS:C3540844|DOID:0110625
MONDO:0016695	oligodendroglioma	biolink:Disease	mondo	Orphanet:251627|ICD10:C71.9|ICDO:9450/3|DOID:3181|MedDRA:10030286|NCIT:C3288|GARD:0009953|MESH:D009837|ONCOTREE:ODG|ICD10:C79.1	ordo_disease	oligodendroglioma, NOS|WHO grade II oligodendroglial tumor|well differentiated oligodendroglioma|WHO grade II oligodendroglial neoplasm|oligodendroglioma|well differentiated oligodendroglial tumor|oligodendroglial neoplasm|oligodendroglial tumor	http://purl.obolibrary.org/obo/MONDO_0016695	A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO)	MEDDRA:10030286|ORPHA:251627|NCIT:C3288|UMLS:C0028945|MESH:D009837|DOID:3181
MONDO:0016696	anaplastic oligodendroglioma	biolink:Disease	mondo	MedDRA:10026659|NCIT:C4326|ICDO:9451/3|ICD10:C79.1|Orphanet:251630|EFO:0002501|GARD:0009472|UMLS:C0334590|ICD10:C71.9|ONCOTREE:AODG	ordo_disease|gard_rare	oligodendroglioma, malignant|oligodendroglioma, anaplastic, malignant|anaplastic oligodendroglioma|undifferentiated oligodendroglioma|WHO grade III oligodendroglial neoplasm|WHO grade III oligodendroglial tumor|malignant oligodendroglioma	http://purl.obolibrary.org/obo/MONDO_0016696	A WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity).	ORPHA:251630|NCIT:C4326|MEDDRA:10026659|UMLS:C0334590
MONDO:0016697	low grade ependymoma	biolink:Disease	mondo	Orphanet:251633|UMLS:CN201940|ICD10:D43.2	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016697		ORPHA:251633|UMLS:CN201940
MONDO:0016690	pleomorphic xanthoastrocytoma	biolink:Disease	mondo	ICD10:C71.9|NCIT:C4323|ONCOTREE:PXA|GARD:0010631|DOID:4852|ICDO:9424/3|ICD10:C79.1|Orphanet:251607|UMLS:C0334586	ordo_disease|gard_rare	pleomorphic Xantho-astrocytoma|PXA	http://purl.obolibrary.org/obo/MONDO_0016690	A WHO grade ll astrocytic tumor with a relatively favorable prognosis. It is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. It presents in the superficial cerebral hemispheres and involves the meninges. It typically affects children and young adults.	NCIT:C4323|UMLS:C0334586|DOID:4852|ORPHA:251607
MONDO:0014035	severe intellectual disability-progressive spastic diplegia syndrome	biolink:Disease	mondo	ICD10:G11.4|UMLS:C3554449|Orphanet:404473|GARD:0003505|DOID:0070049|OMIM:615075	gard_rare|ordo_malformation_syndrome	intellectual disability, autosomal dominant type 19|MRD19|mental retardation, autosomal dominant 19|intellectual disability, autosomal dominant 19|autosomal dominant mental retardation 19|autosomal dominant intellectual disability 19|mental retardation, autosomal dominant 19; MRD19|autosomal dominant non-syndromic intellectual disability 19|CTNNB1-related intellectual disability|intellectual disability, autosomal dominant 19; MRD19|mental retardation, autosomal dominant type 19	http://purl.obolibrary.org/obo/MONDO_0014035	Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability. Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity ; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person.	ORPHA:404473|http://identifiers.org/omim/615075|DOID:0070049|UMLS:C3554449
MONDO:0016691	pilocytic astrocytoma	biolink:Disease	mondo	GARD:0009808|ICD10:C79.1|NCIT:C4047|Orphanet:251612|SCTID:763865009|DOID:4851|ICD10:C71.9|ONCOTREE:PAST|ICDO:9421/1|UMLS:C0334583	ordo_disease	Piloid astrocytoma|grade I astrocytic neoplasm|astrocytoma, pilocytic, benign|astrocytoma, benign|grade I astrocytic tumor|grade I astrocytoma|pilocytic astrocytoma	http://purl.obolibrary.org/obo/MONDO_0016691	Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but ocurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported.	ORPHA:251612|UMLS:C0334583|SNOMEDCT:763865009|DOID:4851|NCIT:C4047
MONDO:0014034	severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	biolink:Disease	mondo	ICD10:Q87.8|UMLS:C3554448|Orphanet:363686|GARD:0012815|DOID:0070048|OMIM:615074	ordo_disease	mental retardation, autosomal dominant type 18|intellectual disability, autosomal dominant type 18|GATAD2B-associated neurodevelopmental disorder|MRD18|mental retardation, autosomal dominant 18|autosomal dominant intellectual disability 18|autosomal dominant mental retardation 18|intellectual disability, autosomal dominant 18|mental retardation, autosomal dominant 18; MRD18|autosomal dominant non-syndromic intellectual disability 18|intellectual disability, autosomal dominant 18; MRD18	http://purl.obolibrary.org/obo/MONDO_0014034	An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3.	http://identifiers.org/omim/615074|DOID:0070048|ORPHA:363686|UMLS:C3554448
MONDO:0014033	dystonia 25	biolink:Disease	mondo	OMIM:615073|UMLS:C3554447|ICD10:G24.1|DOID:0090055|Orphanet:329466	ordo_disease	dystonia type 25|dystonia 25; DYT25|dystonic disorder caused by mutation in GNAL|dystonia 25|autosomal dominant focal dystonia, DYT25 type|GNAL dystonic disorder|DYT25	http://purl.obolibrary.org/obo/MONDO_0014033	Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia, characterized by cervical, laryngeal and hand-forearm dystonia.	http://identifiers.org/omim/615073|ORPHA:329466|DOID:0090055|UMLS:C3554447
MONDO:0016692	pilomyxoid astrocytoma	biolink:Disease	mondo	ICD10:C71.9|Orphanet:251615|ICDO:9425/3|DOID:4845|UMLS:C1519086|ONCOTREE:PMA|NCIT:C40315	ordo_histopathological_subtype	PMA	http://purl.obolibrary.org/obo/MONDO_0016692	An astrocytic tumor of uncertain relation to pilocytic astrocytoma. It occurs predominantly in infants and young children. It is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies. The clinical course is usually aggressive.	ORPHA:251615|NCIT:C40315|UMLS:C1519086|DOID:4845
MONDO:0014032	brachydactyly type A1C	biolink:Disease	mondo	UMLS:C3554446|OMIM:615072|DOID:0110977		brachydactyly type A1 caused by mutation in GDF5|GDF5 brachydactyly type A1|brachydactyly, type A1, C|brachydactyly, type A1, C; BDA1C|BDA1C	http://purl.obolibrary.org/obo/MONDO_0014032	Any brachydactyly type A1 in which the cause of the disease is a mutation in the GDF5 gene.	DOID:0110977|http://identifiers.org/omim/615072|UMLS:C3554446
MONDO:0016693	subependymal giant cell astrocytoma	biolink:Disease	mondo	DOID:5077|SCTID:449799008|ICDO:9384/1|UMLS:C0205768|GARD:0010632|NCIT:C3696|ICD10:D43.2|Orphanet:251618	ordo_disease|gard_rare	subependymal giant cell astrocytoma (morphologic abnormality)|subependymal giant cell astrocytic neoplasm|subependymal giant cell astrocytic tumor|SEGA	http://purl.obolibrary.org/obo/MONDO_0016693	A benign, slowly growing tumor (WHO grade I) typically arising in the wall of the lateral ventricles and composed of large ganglioid astrocytes. It is the most common CNS neoplasm in patients with tuberous sclerosis complex and typically occurs during the first two decades of life. (WHO)	ORPHA:251618|NCIT:C3696|DOID:5077|SNOMEDCT:449799008|UMLS:C0205768
MONDO:0002039	cognitive disorder	biolink:Disease	mondo	ICD10:F09|DOID:1561|NCIT:C92196|ICD9:294.9|SCTID:443265004|COHD:374009|MESH:D019965|EFO:1001457		cognitive disorder|organic mental disorder|cognitive disease	http://purl.obolibrary.org/obo/MONDO_0002039	A disease affects cognitive processes.	NCIT:C92196|SNOMEDCT:443265004|MESH:D019965|DOID:1561
HGNC:31948	CEACAM16	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/31948		
MONDO:0002035	colon lymphoma	biolink:Disease	mondo	ICD9:202.80|DOID:1523|UMLS:C0519037|NCIT:C4793|SCTID:133751000119102		colon lymphoma|lymphoma of the colon|lymphoma of colon|primary colon lymphoma|colonic lymphoma	http://purl.obolibrary.org/obo/MONDO_0002035	An extranodal lymphoma that arises from the colon. The majority are B-cell non-Hodgkin lymphomas.	SNOMEDCT:133751000119102|DOID:1523|NCIT:C4793|UMLS:C0519037
MONDO:0004698	intestine carcinoma in situ	biolink:Disease	mondo	DOID:9024|UMLS:C0685941|SCTID:92617001|ICD9:230.7|ICD10:D01.4		intestine in situ carcinoma|carcinoma in situ of intestine|stage 0 intestine carcinoma	http://purl.obolibrary.org/obo/MONDO_0004698	A carcinoma in situ involving a intestine.	DOID:9024|UMLS:C0685941|SNOMEDCT:92617001
MONDO:0002036	penile disease	biolink:Disease	mondo	ICD9:607.89|MESH:D010409|ICD9:607.8|ICD10:N48.8|SCTID:33958003|DOID:1529|NCIT:C26846|UMLS:C0030846|ICD10:N48.89|ICD9:607.9		disease of penis|penile disorder|penis disease or disorder|penile disease|disorder of penis|penis disease|disorder of penis|disease or disorder of penis	http://purl.obolibrary.org/obo/MONDO_0002036	A non-neoplastic or neoplastic disorder that affects the penis. Representative examples of non-neoplastic disorders include phimosis, balanitis, and hypospadias. Representative examples of neoplastic disorders include hemangioma, penile intraepithelial neoplasia, and penile carcinoma.	SNOMEDCT:33958003|MESH:D010409|DOID:1529|NCIT:C26846|UMLS:C0030846
MONDO:0004697	esophageal leukoplakia (disease)	biolink:Disease	mondo	UMLS:C0267095|DOID:9021|HP:0012859|NCIT:C3953|SCTID:89057003|ICD9:530.83		leukoplakia of esophagus|leukoplakia of the esophagus|esophageal leukoplakia|esophageal epidermoid metaplasia|esophagus leukoplakia	http://purl.obolibrary.org/obo/MONDO_0004697	A rare condition that usually affects the middle-to-distal esophagus in middle-aged and elderly people. There is usually a history of tobacco smoking or alcohol intake. Dysphagia is the presenting symptom. Morphologically, the lesions are well-demarcated and are characterized by epithelial hyperplasia, thickened basal layer, prominent granular cell layer, and hyperorthokeratosis. In a minority of patients this condition is associated with adjacent high-grade squamous dysplasia and/or squamous cell carcinoma.	DOID:9021|SNOMEDCT:89057003|UMLS:C0267095|NCIT:C3953
MONDO:0002037	pleural disease	biolink:Disease	mondo	NCIT:C26859|UMLS:C0032226|MESH:D010995|ICD9:518.89|SCTID:88075009|DOID:1532		non-neoplastic pleural disease|disease of pleura|disease or disorder of pleura|disorder of pleura|pleura disease|pleural disorders|pleura disease or disorder|disorder of pleura|pleural disorder	http://purl.obolibrary.org/obo/MONDO_0002037	A non-neoplastic or neoplastic disorder that affects the pleura. Representative examples include pleural infection, pleural mesothelioma, and pleural solitary fibrous tumor.	SNOMEDCT:88075009|DOID:1532|MESH:D010995|NCIT:C26859|UMLS:C0032226
UBERON:2001073	axial vasculature	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_2001073		
MONDO:0004699	gastrointestinal lymphoma	biolink:Disease	mondo	UMLS:C0740372|NCIT:C38162|SCTID:449072004|ICD9:202.80|DOID:903		gastrointestinal lymphoma|lymphoma of digestive system|digestive system lymphoma|primary digestive system lymphoma|primary gastrointestinal lymphoma	http://purl.obolibrary.org/obo/MONDO_0004699	A non-Hodgkin or Hodgkin lymphoma that arises from any part of the digestive system, with the bulk of the disease localized to that site.	DOID:903|NCIT:C38162|SNOMEDCT:449072004|UMLS:C0740372
MONDO:0002038	head and neck carcinoma	biolink:Disease	mondo	DOID:1542|UMLS:C3887461|UMLS:C1334927|NCIT:C35850		head and neck cancer|carcinoma of craniocervical region|carcinoma of the head and neck|craniocervical region carcinoma|carcinoma of head and neck|carcinoma of the neck|carcinoma of neck|neck carcinoma|head and neck carcinoma	http://purl.obolibrary.org/obo/MONDO_0002038	A carcinoma that arises from the head and neck region. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma.	DOID:1542|UMLS:C1334927|NCIT:C35850|UMLS:C3887461
MONDO:0004694	hepatopulmonary syndrome	biolink:Disease	mondo	ICD10:K76.81|ICD9:573.5|GARD:0013384|COHD:4159144|MESH:D020065|EFO:1001346|ICD9:417.8|SCTID:371067004|UMLS:C0600452|DOID:900	gard_rare		http://purl.obolibrary.org/obo/MONDO_0004694	Hepatopulmonary syndrome (HPS) is a lung disease characterized by widening of arteries and veins (dilatation) in the lungs in people who have chronic liver disease. Because of the dilated vases, the workload of the heart increases and the blood pumped to the body does not have enough oxygen, leading to a decreased level of oxygen in the blood (hypoxemia). The normal diameter of the lung vessels ranges between 8 and 15 μm whereas when in HPS rises to between 15 and 500 μm. While many people with HPS don't have any obvious problems, the main reported symptom is shortness of breath (dyspnea) that is worse when standing or sitting up, and is relieved when lying down (platypnea). Symptoms related to chronic liver disease (generally cirrhosis) include small red spots on the skin (spider angiomas) and abnormal vascular dilatations. Some other symptoms that have been described are infections in the brain (brain abscesses), brain bleeding and an increased number of red blood cells in the blood (polycythemia). There is currently no effective medication for HPS. Oxygen therapy may improve the breathing in some cases. Liver transplant is an efficient treatment which improves the symptoms, even in severe cases.	UMLS:C0600452|SNOMEDCT:371067004|MESH:D020065|DOID:900
MONDO:0002031	cecal disease	biolink:Disease	mondo	DOID:1518|MESH:D002429|SCTID:128525008|UMLS:C0007527		disorder of caecum|disease of caecum|disease or disorder of caecum|disorder of caecum|caecum disease|caecum disease or disorder	http://purl.obolibrary.org/obo/MONDO_0002031	Pathological developments in the cecum.	SNOMEDCT:128525008|UMLS:C0007527|DOID:1518|MESH:D002429
NCBITaxon:11604		organism taxon	mondo				http://purl.obolibrary.org/obo/NCBITaxon_11604		
MONDO:0002032	colon carcinoma	biolink:Disease	mondo	UMLS:C0699790|NCIT:C4910|SCTID:269533000|EFO:1001950|DOID:1520		carcinoma of the colon|colonic carcinoma|colon carcinoma|carcinoma of colon|colon cancer	http://purl.obolibrary.org/obo/MONDO_0002032	A carcinoma that arises from epithelial cells of the colon	DOID:1520|SNOMEDCT:269533000|NCIT:C4910|UMLS:C0699790
MONDO:0004693	squamous carcinoma in situ	biolink:Disease	mondo	NCIT:C27093|ICDO:8077/2|UMLS:C0334245|ICDO:8070/2		stage 0 uterine cervix carcinoma|squamous cell carcinoma in-situ|stage 0 squamous cell carcinoma|epidermoid cell carcinoma in situ|cervical intraepithelial neoplasia grade III with severe dysplasia|carcinoma in situ of uterine cervix|carcinoma, squamous cell, in situ, malignant|grade 3 SIN|grade III squamous intraepithelial neoplasia|epidermoid carcinoma in situ|intraepithelial squamous cell carcinoma|CIN III|uterine cervix in situ carcinoma|severe dysplasia of the cervix uteri|carcinoma in situ of cervix|CIN III - severe dyskaryosis|CIN III - carcinoma in situ of cervix|squamous carcinoma in situ|severe dysplasia of cervix|squamous intraepithelial neoplasia, grade III|cervix Ca in situ|squamous cell carcinoma in situ|grade III SIN|grade 3 squamous intraepithelial neoplasia	http://purl.obolibrary.org/obo/MONDO_0004693	A malignant epithelial neoplasm confined to the squamous epithelium, without invasion of the underlying tissues.	UMLS:C0334245|NCIT:C27093
MONDO:0004696	larynx carcinoma in situ	biolink:Disease	mondo	COHD:24897|ICD10:D02.0|SCTID:92634009|DOID:9011|NCIT:C9100|ICD9:231.0|UMLS:C0154069		laryngeal carcinoma in situ|stage 0 carcinoma of larynx|stage 0 laryngeal carcinoma in situ|larynx in situ carcinoma|stage 0 larynx carcinoma|stage 0 laryngeal carcinoma|laryngeal carcinoma stage 0|larynx carcinoma in situ|stage 0 laryngeal cancer|stage 0 laryngeal throat cancer|carcinoma in situ of larynx|laryngeal cancer stage 0|stage 0 laryngeal cancer aJCC v6, v7, and V8|stage 0 laryngeal cancer aJCC v8|carcinoma in situ of the larynx|stage 0 laryngeal cancer aJCC v7|stage 0 carcinoma of the larynx|stage 0 laryngeal cancer aJCC v6	http://purl.obolibrary.org/obo/MONDO_0004696	A in situ carcinoma that involves the larynx.	UMLS:C0154069|DOID:9011|SNOMEDCT:92634009|NCIT:C9100
MONDO:0002033	cecum cancer	biolink:Disease	mondo	NCIT:C9329|ICD10:C18.0|ICD9:153.4|COHD:443391|DOID:1521|UMLS:C0153437		malignant neoplasm of caecum|malignant tumor of the cecum|malignant caecum neoplasm|malignant tumor of cecum|malignant cecum neoplasm|cancer of caecum|malignant neoplasm of the cecum|malignant neoplasm of cecum|caecum cancer|malignant cecum tumor	http://purl.obolibrary.org/obo/MONDO_0002033	A malignant neoplasm involving the caecum	DOID:1521|UMLS:C0153437|NCIT:C9329
MONDO:0004695	liver lymphoma	biolink:Disease	mondo	UMLS:C1112746|NCIT:C4949|DOID:901		liver lymphoma|hepatic lymphoma|primary hepatic lymphoma|primary liver lymphoma|lymphoma of the liver|lymphoma of liver	http://purl.obolibrary.org/obo/MONDO_0004695	A rare lymphoma that arises from the liver and the bulk of the tumor is located in the liver. The most frequent types of lymphoma that arise from the liver are diffuse large B-cell lymphoma and mucosa-associated lymphoid tissue lymphoma.	UMLS:C1112746|NCIT:C4949|DOID:901
MONDO:0002034	cecum lymphoma	biolink:Disease	mondo	UMLS:C1332867|NCIT:C5515|DOID:1522		lymphoma of the cecum|caecum lymphoma|lymphoma of cecum|lymphoma of caecum|cecum lymphoma|cecal lymphoma|primary cecum lymphoma	http://purl.obolibrary.org/obo/MONDO_0002034	An extranodal lymphoma that arises from the cecum. The majority are B-cell non-Hodgkin lymphomas.	DOID:1522|NCIT:C5515|UMLS:C1332867
MONDO:0004690	tonsillar fossa cancer	biolink:Disease	mondo	ICD9:146.1|UMLS:C0153384|SCTID:363394001|DOID:8969|ICD10:C09.0		malignant neoplasm of tonsillar fossa|malignant tumor of tonsillar fossa|tonsillar fossa cancer|cancer of tonsillar fossa|malignant tonsillar fossa neoplasm	http://purl.obolibrary.org/obo/MONDO_0004690	A cancer involving a tonsillar fossa.	UMLS:C0153384|SNOMEDCT:363394001|DOID:8969
NCBITaxon:11608		organism taxon	mondo				http://purl.obolibrary.org/obo/NCBITaxon_11608		
MONDO:0004692	obsolete choledochal cyst	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004692		
MONDO:0004691	autosomal dominant polycystic kidney disease	biolink:Disease	mondo	NCIT:C84578|SCTID:765330003|ICD9:753.13|ICD9:753.12|GARD:0010413|ICD10:Q61.3|EFO:1001496|Orphanet:730|UMLS:CN119611|DOID:898|MESH:D016891		polycystic kidney disease, autosomal dominant|congenital biliary ectasias|ADPKD|polycystic kidney and hepatic disease 1	http://purl.obolibrary.org/obo/MONDO_0004691	Autosomal dominant form of polycystic kidney disease.	NCIT:C84578|MESH:D016891|SNOMEDCT:765330003|UMLS:CN119611|ORPHA:730|DOID:898
MONDO:0002030	chronic cervicitis	biolink:Disease	mondo	NCIT:C27057|SCTID:56728002|DOID:1513|UMLS:C0269062		chronic cervicitis (disease)|cervicitis (disease), chronic	http://purl.obolibrary.org/obo/MONDO_0002030	Chronic inflammation of the cervix.	UMLS:C0269062|DOID:1513|NCIT:C27057|SNOMEDCT:56728002
MONDO:0014028	distal arthrogryposis type 5D	biolink:Disease	mondo	GARD:0013059|OMIM:615065|Orphanet:329457|UMLS:C3554415|ICD10:Q68.8|DOID:0111594	ordo_disease|gard_rare	distal arthrogryposis type 5 without ophthalmoparesis|DA5D|arthrogryposis, distal, type 5D; DA5D|ECEL1 distal arthrogryposis|distal arthrogryposis type 5 without ophthalmoplegia|arthrogryposis, distal, type 5D|distal arthrogryposis caused by mutation in ECEL1	http://purl.obolibrary.org/obo/MONDO_0014028	Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.	DOID:0111594|UMLS:C3554415|http://identifiers.org/omim/615065|ORPHA:329457
MONDO:0014027	hypotrichosis 11	biolink:Disease	mondo	UMLS:C3554409|OMIM:615059|DOID:0110708		hypt11|hypotrichosis 11|hypotrichosis type 11|HYPT11|hypotrichosis 11; HYPT11|SNRPE hypotrichosis|hypotrichosis caused by mutation in SNRPE	http://purl.obolibrary.org/obo/MONDO_0014027	Any hypotrichosis in which the cause of the disease is a mutation in the SNRPE gene.	UMLS:C3554409|DOID:0110708|http://identifiers.org/omim/615059
MONDO:0014026	congenital stationary night blindness 1F	biolink:Disease	mondo	UMLS:C3554399|OMIM:615058|DOID:0110864		congenital stationary night blindness type 1F|congenital stationary night blindness caused by mutation in LRIT3|CSNB1F|night blindness, congenital stationary, type 1F; CSNB1F|night blindness, congenital stationary, type 1F|LRIT3 congenital stationary night blindness|congenital stationary night blindness 1F autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0014026	Any congenital stationary night blindness in which the cause of the disease is a mutation in the LRIT3 gene.	UMLS:C3554399|DOID:0110864|http://identifiers.org/omim/615058
MONDO:0014025	lower motor neuron syndrome with late-adult onset	biolink:Disease	mondo	UMLS:C3554398|ICD10:G12.1|OMIM:615048|Orphanet:276435	ordo_disease	SMAJ|spinal muscular atrophy, Jokela type|spinal muscular atrophy, Jokela type; SMAJ	http://purl.obolibrary.org/obo/MONDO_0014025		UMLS:C3554398|ORPHA:276435|http://identifiers.org/omim/615048
MONDO:0016687	protoplasmic astrocytoma	biolink:Disease	mondo	UMLS:C0334580|ICD10:C71.9|NCIT:C4320|Orphanet:251598|DOID:7008|ICDO:9410/3	ordo_histopathological_subtype	protoplasmic astrocytoma (morphologic abnormality)|protoplasmic astrocytoma|protoplasmic astrocytic tumor	http://purl.obolibrary.org/obo/MONDO_0016687	A rare variant of diffuse astrocytoma. It is predominantly composed of neoplastic astrocytes showing a small cell body with few, flaccid processes with a low content of glial filaments and scant GFAP expression. This lesion is not well defined and is considered by some authors as an occasional histopathological feature rather than a reproducibly identifiable variant. When occurring in children, this neoplasm may be difficult to separate from pilocytic juvenile astrocytoma. (Adapted from WHO)	ORPHA:251598|NCIT:C4320|DOID:7008|UMLS:C0334580
MONDO:0016688	fibrillary astrocytoma	biolink:Disease	mondo	MedDRA:10065889|ICDO:9420/3|NCIT:C4322|Orphanet:251601|DOID:6726|UMLS:C0334582|ICD10:C71.9	ordo_histopathological_subtype	diffuse astrocytoma|fibrillary astrocytic tumors|fibrillary astrocytoma	http://purl.obolibrary.org/obo/MONDO_0016688	The most frequent histological variant of diffuse astrocytoma. It is predominantly composed of fibrillary neoplastic astrocytes. Nuclear atypia is a diagnostic criterion but mitotic activity, necrosis and microvascular proliferation are absent. The occasional or regional occurrence of gemistocytic neoplastic cells is compatible with the diagnosis of fibrillary astrocytoma. (WHO)	ORPHA:251601|NCIT:C4322|UMLS:C0334582|DOID:6726|MEDDRA:10065889
MONDO:0016689	gemistocytic astrocytoma	biolink:Disease	mondo	DOID:7005|UMLS:C0334581|ICD10:C71.9|Orphanet:251604|NCIT:C4321|ICDO:9411/3	ordo_histopathological_subtype	gemistocytic astrocytoma (morphologic abnormality)|gemistocytic astrocytic tumor|Gemistocytoma|gemistocytic astrocytoma	http://purl.obolibrary.org/obo/MONDO_0016689	A rare variant of diffuse astrocytoma. It is characterized by the presence of a conspicuous, though variable, fraction of gemistocytic neoplastic astrocytes. Gemistocytes are round to oval astrocytes with abundant, glassy, non-fibrillary cytoplasm which appears to displace the dark, angulated nucleus to the periphery of the cell. To make the diagnosis of gemistocytic astrocytoma, gemistocytes should amount to more than approximately 20% of all tumor cells. (Adapted from WHO)	ORPHA:251604|NCIT:C4321|DOID:7005|UMLS:C0334581
MONDO:0014029	osteogenesis imperfecta type 14	biolink:Disease	mondo	DOID:0110343|UMLS:C3554428|OMIM:615066|ICD10:Q78.0		osteogenesis imperfecta, type XIV; OI14|osteogenesis imperfecta caused by mutation in TMEM38B|osteogenesis imperfecta, type 14|OI, type 14|osteogenesis imperfecta type XIV|osteogenesis imperfecta, type XIV|OI14|TMEM38B osteogenesis imperfecta	http://purl.obolibrary.org/obo/MONDO_0014029	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the TMEM38B gene.	DOID:0110343|UMLS:C3554428|http://identifiers.org/omim/615066
MONDO:0014020	hereditary spastic paraplegia 55	biolink:Disease	mondo	ICD10:G11.4|Orphanet:320375|OMIM:615035|UMLS:C4510214|DOID:0110807|SCTID:723825006|UMLS:C3539506	ordo_disease	spastic paraplegia 55, autosomal recessive|autosomal recessive spastic paraplegia type 55|autosomal recessive spastic paraplegia 55|spastic paraplegia 55, autosomal recessive; SPG55|SPG55|hereditary spastic paraplegia type 55	http://purl.obolibrary.org/obo/MONDO_0014020		DOID:0110807|http://identifiers.org/omim/615035|UMLS:C4510214|SNOMEDCT:723825006|ORPHA:320375|UMLS:C3539506
MONDO:0016683	gliomatosis cerebri	biolink:Disease	mondo	UMLS:C0334576|ICD10:C71.0|MedDRA:10066254|DOID:6128|ICDO:9381/3|GARD:0006514|Orphanet:251582|NCIT:C4318	ordo_disease|gard_rare	gliomatosis cerebri|gliomatosis cerebri (morphologic abnormality)|gliomatosis|astrocytosis cerebri	http://purl.obolibrary.org/obo/MONDO_0016683	A diffuse glial tumor which infiltrates the brain extensively, involving more than two lobes. It is frequently bilateral and often extends to the infratentorial structures, even to the spinal cord. It is probably of astrocytic origin, although GFAP expression may be scant or absent. (Adapted from WHO.)	ORPHA:251582|NCIT:C4318|UMLS:C0334576|MEDDRA:10066254|DOID:6128
MONDO:0016684	anaplastic astrocytoma	biolink:Disease	mondo	DOID:3078|MedDRA:10060971|ONCOTREE:AASTR|UMLS:C0334579|MedDRA:10002224|Orphanet:251589|ICDO:9401/3|ICD10:C71.9|NCIT:C9477|EFO:0002499|GARD:0005860	ordo_disease	high-grade astrocytoma, NOS|grade III astrocytic neoplasm|anaplastic astrocytoma|astrocytoma, anaplastic, malignant|grade III astrocytic tumor|malignant astrocytoma|grade III astrocytoma	http://purl.obolibrary.org/obo/MONDO_0016684	Anaplastic astrocytoma is a rare, high-grade, malignant glial tumor, histologically characterized by abundance of pleomorphic astrocytes and multiple mitotic figures, often associated with diffuse infiltration of the surrounding tissue, considerable edema and mass effect and involvement of the contralateral brain. Depending on the primary localization of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), seizures, progressive neurological deficits, and/or behavioral changes. The tumor is most commonly localized in the frontal and temporal lobes, brain stem and spinal cord.	MEDDRA:10002224|ORPHA:251589|MEDDRA:10060971|UMLS:C0334579|NCIT:C9477|DOID:3078
MONDO:0016685	low-grade astrocytoma	biolink:Disease	mondo	MedDRA:10065869|Orphanet:251592	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016685		ORPHA:251592|MEDDRA:10065869|UMLS:C1314694
MONDO:0016686	diffuse astrocytoma	biolink:Disease	mondo	ONCOTREE:DASTR|GARD:0005907|ICD10:C71.9|NCIT:C7173|Orphanet:251595|UMLS:C0280785	ordo_disease	astrocytoma, diffuse|grade II astrocytic neoplasm|diffuse astrocytoma|protoplasmic astrocytoma (histologic variant)|fibrillary astrocytoma (histologic variant)|low-grade astrocytoma, NOS|astrocytoma, diffuse, malignant|low-grade diffuse astrocytoma|gemistocytic astrocytoma (histologic variant)|grade II astrocytic tumor|WHO grade II astrocytoma|grade II astrocytoma	http://purl.obolibrary.org/obo/MONDO_0016686	A low-grade (WHO grade II) astrocytic neoplasm. It is characterized by diffuse infiltration of neighboring central nervous system structures. These lesions typically affect young adults and have a tendency for progression to anaplastic astrocytoma and glioblastoma. Based on the IDH genes mutation status, diffuse astrocytomas are classified as IDH-mutant, IDH-wildtype, and not otherwise specified.	UMLS:C0280785|ORPHA:251595|NCIT:C7173
MONDO:0014024	hereditary spastic paraplegia 43	biolink:Disease	mondo	ICD10:G11.4|SCTID:764736001|UMLS:C2680446|DOID:0110795|OMIM:615043|Orphanet:320370	ordo_disease	autosomal recessive spastic paraplegia 43|C19orf12 autosomal recessive complex spastic paraplegia|autosomal recessive complex spastic paraplegia caused by mutation in C19orf12|SPG43|hereditary spastic paraplegia type 43|spastic paraplegia 43, autosomal recessive; SPG43|spastic paraplegia 43, autosomal recessive|autosomal recessive spastic paraplegia type 43	http://purl.obolibrary.org/obo/MONDO_0014024	Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported.	DOID:0110795|http://identifiers.org/omim/615043|SNOMEDCT:764736001|UMLS:C2680446|ORPHA:320370
HGNC:18971	AP1S3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18971		
MONDO:0014023	congenital muscular dystrophy with intellectual disability and severe epilepsy	biolink:Disease	mondo	DOID:0080571|ICD10:E77.8|OMIM:615042|Orphanet:329178|UMLS:C3554385|GARD:0012416	ordo_disease	congenital disorder of glycosylation type 1u|CDG-Iu|carbohydrate deficient glycoprotein syndrome type Iu|CDG Iu|CDG1U|CDG syndrome type Iu|congenital disorder of glycosylation type Iu|congenital disorder of glycosylation, type Iu; CDG1U|CMD with intellectual disability and severe epilepsy|DPM2-CDG|congenital disorder of glycosylation, type Iu	http://purl.obolibrary.org/obo/MONDO_0014023		UMLS:C3554385|http://identifiers.org/omim/615042|ORPHA:329178|DOID:0080571
MONDO:0016680	high grade astrocytic tumor	biolink:Disease	mondo	NCIT:C102897|UMLS:C3640999|Orphanet:251561	ordo_group_of_disorders	high-grade astrocytoma|high grade astrocytic tumor|high-grade astrocytic tumor|high-grade astrocytic neoplasm|high grade astrocytic neoplasm	http://purl.obolibrary.org/obo/MONDO_0016680	An anaplastic astrocytoma (grade III astrocytic tumor) or glioblastoma (grade IV astrocytic tumor).	ORPHA:251561|UMLS:C3640999|NCIT:C102897
MONDO:0016681	gliosarcoma	biolink:Disease	mondo	MedDRA:10018340|GARD:0005653|ICDO:9442/3|ICD10:G71.9|UMLS:C0206726|DOID:3071|Orphanet:251576|EFO:1001465|ONCOTREE:GSARC|NCIT:C3796|MESH:D018316	ordo_histopathological_subtype|gard_rare	sarcomatous glioblastoma|glioblastoma with a sarcomatous component|gliosarcoma|glioblastoma with sarcomatous component	http://purl.obolibrary.org/obo/MONDO_0016681	A rare histological variant of glioblastoma (WHO grade IV) characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation (WHO).	ORPHA:251576|NCIT:C3796|MEDDRA:10018340|DOID:3071|UMLS:C0206726|MESH:D018316
MONDO:0014022	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10	biolink:Disease	mondo	UMLS:C3554381|DOID:0111239|OMIM:615041		muscular dystrophy-dystroglycanopathy, type A caused by mutation in RXYLT1|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10|RXYLT1 muscular dystrophy-dystroglycanopathy, type A|MDDGA10|Walker-Warburg syndrome or muscle-eye-brain disease, Tmem5-related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10; MDDGA10	http://purl.obolibrary.org/obo/MONDO_0014022	Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the RXYLT1 gene.	http://identifiers.org/omim/615041|DOID:0111239|UMLS:C3554381
MONDO:0014021	familial episodic pain syndrome with predominantly upper body involvement	biolink:Disease	mondo	Orphanet:391389|OMIM:615040|UMLS:CN204968|ICD10:M79.6|UMLS:C3808667	ordo_clinical_subtype	episodic pain syndrome, familial, type 1|FEPS1|episodic pain syndrome, familial, 1|episodic pain syndrome, familial, 1; FEPS1	http://purl.obolibrary.org/obo/MONDO_0014021		UMLS:C3808667|http://identifiers.org/omim/615040|UMLS:CN204968|ORPHA:391389
MONDO:0016682	giant cell glioblastoma	biolink:Disease	mondo	DOID:3074|ICDO:9441/3|Orphanet:251579|NCIT:C4325|UMLS:C0334588|ICD10:C71.9|UMLS:C0334593	ordo_histopathological_subtype	Monstrocellular sarcoma [obs]|Monstrocellular sarcoma	http://purl.obolibrary.org/obo/MONDO_0016682	A rare histological variant of glioblastoma (WHO grade IV) with a predominance of bizarre, multinucleated giant cells, an occasionally abundant stromal reticulin network, and a high frequency of TP53 mutations. (WHO)	ORPHA:251579|NCIT:C4325|UMLS:C0334588|UMLS:C0334593|DOID:3074
MONDO:0002046	alcohol abuse	biolink:Disease	mondo	MESH:D000437|COHD:433753|ICD9:305.0|ICD10:F10.1|SCTID:15167005|DOID:1574|ICD9:305.00		alcohol addiction|addiction, alcohol|alcohol abuse|alcohol dependence|ethanol abuse|alcoholic intoxication, chronic|intoxication, chronic alcoholic|alcohol use disorder|alcoholism|chronic alcoholic intoxication|abuse, alcohol|dependence, alcohol	http://purl.obolibrary.org/obo/MONDO_0002046	The use of alcoholic beverages to excess, either on individual occasions ("binge drinking") or as a regular practice.	NCIT:C20701|DOID:1574|MESH:D000437|SNOMEDCT:15167005
MONDO:0002047	pulmonary systemic sclerosis	biolink:Disease	mondo	SCTID:196133001|DOID:1578|ICD10:M34.81|ICD9:517.2|COHD:255304|UMLS:C0339904		lung involvement in systemic sclerosis|scleroderma of lung|scleroderma lung disease|lung disease with systemic sclerosis	http://purl.obolibrary.org/obo/MONDO_0002047		UMLS:C0339904|DOID:1578|SNOMEDCT:196133001
MONDO:0002048	thrombocytopenia due to immune destruction	biolink:Disease	mondo	GARD:0006768|NCIT:C3991|DOID:1587		auto-immune thrombocytopenia|thrombocytopenia due to platelet alloimmunization|thrombocytopenia due to immune destruction|immune thrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0002048	A general class of thrombocytopenia due to immune destruction of platelets. It includes idiopathic thrombocytopenic purpura, as well as immune destruction-related thrombocytopenias due to other reasons (e.g., AIDS, transfusion, lupus erythematosus).	DOID:1587|NCIT:C3991
MONDO:0002049	thrombocytopenia	biolink:Disease	mondo	MESH:D013921|UMLS:C0040034|ICD9:287.5|UMLS:CN130080|ICD10:D69.6|SCTID:302215000|OMIMPS:313900|NCIT:C3408|DOID:1588		platelet count decreased|thrombocytopenic disorder	http://purl.obolibrary.org/obo/MONDO_0002049	A laboratory test result indicating that there is an abnormally small number of platelets in the circulating blood.	MESH:D013921|UMLS:C0040034|UMLS:CN130080|DOID:1588|NCIT:C3408|SNOMEDCT:302215000
MONDO:0002042	mechanical ectropion	biolink:Disease	mondo	UMLS:C0155194|ICD9:374.12|DOID:1569|SCTID:45020000|ICD10:H02.121-129|COHD:379813			http://purl.obolibrary.org/obo/MONDO_0002042	An ectropion with a mechanical etiology.	DOID:1569|SNOMEDCT:45020000|UMLS:C0155194
MONDO:0002043	ectropion (disease)	biolink:Disease	mondo	DOID:1570|COHD:376132|ICD9:374.1|ICD10:H02.109|ICD10:H02.10|SCTID:62909004|UMLS:C0013592|HP:0000656|MESH:D004483|ICD10:H02.1|ICD9:374.10		ectropion of eyelid|everted margin|ectropion	http://purl.obolibrary.org/obo/MONDO_0002043	The turning outward (eversion) of the edge of the eyelid, resulting in the exposure of the palpebral conjunctiva. (Dorland, 27th ed)	DOID:1570|MESH:D004483|UMLS:C0013592|SNOMEDCT:62909004
MONDO:0002044	spastic ectropion	biolink:Disease	mondo	DOID:1571|SCTID:80846000|ICD9:374.13|UMLS:C0155195			http://purl.obolibrary.org/obo/MONDO_0002044		UMLS:C0155195|DOID:1571|SNOMEDCT:80846000
HGNC:28303	ODAD3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28303		
NCBITaxon:11617	Arenaviridae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_11617		
MONDO:0002045	communicating hydrocephalus	biolink:Disease	mondo	SCTID:271569006|NCIT:C34501|COHD:440700|UMLS:C0009451|ICD10:G91.0|DOID:1573|ICD9:331.3		non-obstructive hydrocephalus	http://purl.obolibrary.org/obo/MONDO_0002045	An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of impaired cerebrospinal fluid reabsorption by the arachnoid granulations.	DOID:1573|SNOMEDCT:271569006|UMLS:C0009451|NCIT:C34501
NCBITaxon:11619		organism taxon	mondo				http://purl.obolibrary.org/obo/NCBITaxon_11619		
MONDO:0002040	dermatomycosis	biolink:Disease	mondo	UMLS:C0011630|MESH:D003881|ICD9:111|DOID:1563|ICD9:111.9			http://purl.obolibrary.org/obo/MONDO_0002040	Superficial infections of the skin or its appendages by any of various fungi.	DOID:1563|MESH:D003881|UMLS:C0011630
MONDO:0002041	fungal infectious disease	biolink:Disease	mondo	ICD9:110-118.99|ICD10:B35-B49|NCIT:C3245|MESH:D009181|ICD10:B35.B49|ICD10:B49|ICD9:117.9|COHD:433701|DOID:1564|SCTID:3218000		fungal infection|Fungi disease or disorder|Fungi infection|Fungi infectious disease|Fungi caused disease or disorder|mycosis|mycoses|infection, fungal|infections, Fungi	http://purl.obolibrary.org/obo/MONDO_0002041	An infection caused by a fungus.	SNOMEDCT:3218000|DOID:1564|NCIT:C3245|MESH:D009181
MONDO:0014017	autism, susceptibility to, 18	biolink:Disease	mondo	OMIM:615032	predisposition	autism, susceptibility to, type 18|AUTS18|susceptibility to autism 18|autism, susceptibility to, 18|autism, susceptibility to, 18; AUTS18	http://purl.obolibrary.org/obo/MONDO_0014017		http://identifiers.org/omim/615032
MONDO:0014016	hereditary spastic paraplegia 49	biolink:Disease	mondo	DOID:0110801|OMIM:615031|UMLS:C3542549|Orphanet:320385|ICD10:G11.4	ordo_disease	autosomal recessive spastic paraplegia type 49|hereditary spastic paraplegia type 49|SPG49|spastic paraplegia 49, autosomal recessive; SPG49|autosomal recessive spastic paraplegia 49|spastic paraplegia 49, autosomal recessive|TECPR2 hereditary spastic paraplegia|hereditary spastic paraplegia caused by mutation in TECPR2	http://purl.obolibrary.org/obo/MONDO_0014016	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the TECPR2 gene.	ORPHA:320385|UMLS:C3542549|DOID:0110801|http://identifiers.org/omim/615031
MONDO:0014015	hereditary spastic paraplegia 56	biolink:Disease	mondo	Orphanet:320411|UMLS:C3539507|ICD10:G11.4|DOID:0110808|OMIM:615030	ordo_disease	autosomal recessive spastic paraplegia 56|spastic paraplegia 56, autosomal recessive|hereditary spastic paraplegia caused by mutation in CYP2U1|CYP2U1 hereditary spastic paraplegia|SPG56|spastic paraplegia 56, autosomal recessive; SPG56|autosomal recessive spastic paraplegia type 56|hereditary spastic paraplegia type 56	http://purl.obolibrary.org/obo/MONDO_0014015	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene.	UMLS:C3539507|ORPHA:320411|DOID:0110808|http://identifiers.org/omim/615030
MONDO:0014014	epidermolysis bullosa simplex due to exophilin 5 deficiency	biolink:Disease	mondo	UMLS:C3554367|Orphanet:412189|OMIM:615028|ICD10:Q81.0	ordo_disease	EBS-AR exophilin 5|epidermolysis bullosa, nonspecific, autosomal recessive|EBNS|epidermolysis bullosa, nonspecific, autosomal recessive; EBNS	http://purl.obolibrary.org/obo/MONDO_0014014		UMLS:C3554367|http://identifiers.org/omim/615028|ORPHA:412189
MONDO:0016676	recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome	biolink:Disease	mondo	UMLS:C1860229|Orphanet:251523|ICD10:E83.2	ordo_disease	hyperzincemia and hypercalprotectinemia	http://purl.obolibrary.org/obo/MONDO_0016676	Hyperzincemia and hypercalprotectinemia is a rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported.	ORPHA:251523|UMLS:C1860229
MONDO:0016677	toxic or drug-related embryofetopathy	biolink:Disease	mondo	Orphanet:251529|MESH:D000014	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016677	Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment.	ORPHA:251529|MESH:D000014
MONDO:0016678	maternal disease-related embryofetopathy	biolink:Disease	mondo	Orphanet:251535|UMLS:CN201921	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016678		ORPHA:251535|UMLS:CN201921
MONDO:0014019	dystonia 24	biolink:Disease	mondo	EFO:0009040|Orphanet:420485|UMLS:C3554374|OMIM:615034|DOID:0090052|ICD10:G24.8	ordo_disease	cranio-cervical dystonia with laryngeal and upper-limb involvement|ANO3 dystonic disorder|dystonia 24|dystonic disorder caused by mutation in ANO3|dystonia type 24|dystonia 24; DYT24|DYT24|DYT-ANO3	http://purl.obolibrary.org/obo/MONDO_0014019	Any dystonic disorder in which the cause of the disease is a mutation in the ANO3 gene.	DOID:0090052|UMLS:C3554374|ORPHA:420485|http://identifiers.org/omim/615034
MONDO:0014018	hereditary spastic paraplegia 54	biolink:Disease	mondo	SCTID:723824005|ICD10:G11.4|UMLS:C4510083|UMLS:C3539495|Orphanet:320380|OMIM:615033|DOID:0110806	ordo_disease	spastic paraplegia 54, autosomal recessive; SPG54|autosomal recessive spastic paraplegia 54|hereditary spastic paraplegia type 54|spastic paraplegia 54, autosomal recessive|DDHD2 autosomal recessive complex spastic paraplegia|SPG54|autosomal recessive complex spastic paraplegia caused by mutation in DDHD2|autosomal recessive spastic paraplegia type 54	http://purl.obolibrary.org/obo/MONDO_0014018	A rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2.	UMLS:C3539495|ORPHA:320380|DOID:0110806|http://identifiers.org/omim/615033|UMLS:C4510083|SNOMEDCT:723824005
MONDO:0016679	obsolete rare tumor of neuroepithelial tissue	biolink:Disease	mondo	Orphanet:251558	ordo_group_of_disorders|obsoletion_candidate	rare neuroepithelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0016679	Any of the forms of neuroepithelial neoplasm that have a rare incidence.	ORPHA:251558
MONDO:0016672	hereditary persistence of fetal hemoglobin-sickle cell disease syndrome	biolink:Disease	mondo	Orphanet:251380|UMLS:CN201912|ICD10:D57.2|HGNC:5153|HGNC:3627	ordo_disease	HPFH-sickle cell disease syndrome	http://purl.obolibrary.org/obo/MONDO_0016672		ORPHA:251380|UMLS:CN201912
HGNC:18986	GBA2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18986		
MONDO:0016673	localized junctional epidermolysis bullosa, non-Herlitz type	biolink:Disease	mondo	Orphanet:251393|ICD10:Q81.8|UMLS:CN201914|GARD:0012923	gard_rare|ordo_clinical_subtype	JEB-nH loc	http://purl.obolibrary.org/obo/MONDO_0016673	Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH) characterized by localized blistering, and dystrophic or absent nails.	ORPHA:251393|UMLS:CN201914
MONDO:0016674	46,XY partial gonadal dysgenesis	biolink:Disease	mondo	SCTID:725045004|UMLS:C4510744|ICD10:Q56.1|Orphanet:251510	ordo_malformation_syndrome	46,XY partial testicular dysgenesis|46,XY PGD	http://purl.obolibrary.org/obo/MONDO_0016674	46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.	SNOMEDCT:725045004|ORPHA:251510|UMLS:C4510744
MONDO:0016675	distal arthrogryposis type 10	biolink:Disease	mondo	MESH:C566069|UMLS:C1861238|SCTID:275336002|Orphanet:251515|ICD10:Q68.8|DOID:0111593|OMIM:187370	ordo_malformation_syndrome	arthrogryposis, distal, type 10|short tendo calcaneus|tendo calcaneus, short|distal arthrogryposis type 10|congenital plantar contractures|plantar flexion contracture|short Achilles tendon|DA10|arthrogryposis, distal, type 10; DA10	http://purl.obolibrary.org/obo/MONDO_0016675		DOID:0111593|SNOMEDCT:275336002|http://identifiers.org/omim/187370|ORPHA:251515|UMLS:C1861238|MESH:C566069
HGNC:18985	DCXR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18985		
MONDO:0014013	maternal riboflavin deficiency	biolink:Disease	mondo	Orphanet:411712|ICD10:P00.4|OMIM:615026	ordo_disease	riboflavin deficiency|RBFVD|riboflavin deficiency; RBFVD	http://purl.obolibrary.org/obo/MONDO_0014013		ORPHA:411712|http://identifiers.org/omim/615026
MONDO:0014012	Charcot-Marie-Tooth disease axonal type 2Q	biolink:Disease	mondo	UMLS:C3554366|GARD:0012446|Orphanet:329258|OMIM:615025|DOID:0110170|ICD10:G60.0	ordo_disease	Charcot-Marie-Tooth neuropathy, type 2Q|CMT2Q|Charcot-Marie-Tooth disease, axonal, type 2Q|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Q|Charcot-Marie-Tooth disease caused by mutation in DHTKD1|DHTKD1 Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, axonal, type 2Q; CMT2Q|autosomal dominant Charcot-Marie-Tooth disease type 2Q|autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q|Charcot-Marie-Tooth disease type 2Q|Charcot-Marie-Tooth neuropathy type 2Q	http://purl.obolibrary.org/obo/MONDO_0014012	Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment.	DOID:0110170|UMLS:C3554366|http://identifiers.org/omim/615025|ORPHA:329258
GO:0035592	establishment of protein localization to extracellular region	biolink:OntologyClass	mondo			establishment of protein localization in extracellular region|establishment of protein localisation in extracellular region	http://purl.obolibrary.org/obo/GO_0035592	The directed movement of a protein to a specific location within the extracellular region.	
MONDO:0016670	sickle cell-hemoglobin d disease syndrome	biolink:Disease	mondo	Orphanet:251370|MedDRA:10056724|GARD:0012458|ICD10:D57.2|UMLS:C0272084	ordo_disease	sickle cell - hemoglobin D disease|HbSD disease	http://purl.obolibrary.org/obo/MONDO_0016670		ORPHA:251370|MEDDRA:10056724|UMLS:C0272084
MONDO:0014011	autosomal recessive congenital ichthyosis 10	biolink:Disease	mondo	ICD10:Q80.2|DOID:0060719|OMIM:615024|UMLS:C3554355		ichthyosis, congenital, autosomal recessive type 10|ichthyosis, congenital, autosomal recessive 10; ARCI10|ichthyosis, congenital, autosomal recessive 10|autosomal recessive congenital ichthyosis type 10|ARCI10	http://purl.obolibrary.org/obo/MONDO_0014011	Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the PNPLA1 gene.	UMLS:C3554355|http://identifiers.org/omim/615024|DOID:0060719
MONDO:0014010	autosomal recessive congenital ichthyosis 9	biolink:Disease	mondo	ICD10:Q80.2|DOID:0060718|OMIM:615023|UMLS:C3554349		ARCI9|ichthyosis, congenital, autosomal recessive type 9|ichthyosis, congenital, autosomal recessive 9; ARCI9|autosomal recessive congenital ichthyosis type 9|ichthyosis, congenital, autosomal recessive 9	http://purl.obolibrary.org/obo/MONDO_0014010	Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CERS3 gene.	UMLS:C3554349|DOID:0060718|http://identifiers.org/omim/615023
MONDO:0016671	sickle cell-hemoglobin E disease syndrome	biolink:Disease	mondo	UMLS:C0272085|ICD10:D57.2|Orphanet:251375	ordo_disease	HbSE disease	http://purl.obolibrary.org/obo/MONDO_0016671		ORPHA:251375|UMLS:C0272085
HGNC:31928	NBEAL2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/31928		
MONDO:0014082	cryptosporidiosis-chronic cholangitis-liver disease syndrome	biolink:Disease	mondo	Orphanet:357329|UMLS:C3554687|ICD10:D81.8|OMIM:615207	ordo_disease	immunodeficiency 56|IL21R immunodeficiency|IMD56|immunodeficiency 56; IMD56	http://purl.obolibrary.org/obo/MONDO_0014082		ORPHA:357329|UMLS:C3554687|http://identifiers.org/omim/615207
HGNC:31923	LCA5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/31923		
MONDO:0014081	severe combined immunodeficiency due to CARD11 deficiency	biolink:Disease	mondo	UMLS:C3554686|Orphanet:357237|OMIM:615206|ICD10:D81.2	ordo_disease	CARD11 immunodeficiency|immunodeficiency type 11|IMD11A|immunodeficiency 11|immunodeficiency 11; IMD11|IMD11|immunodeficiency 11; IMD11A|SCID due to CARD11 deficiency	http://purl.obolibrary.org/obo/MONDO_0014081	Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections.	ORPHA:357237|UMLS:C3554686|http://identifiers.org/omim/615206
MONDO:0014080	osteosclerotic metaphyseal dysplasia	biolink:Disease	mondo	OMIM:615198|Orphanet:500548|UMLS:C3554665	ordo_malformation_syndrome	OSMD|osteosclerotic metaphyseal dysplasia; OSMD|osteosclerotic metaphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0014080		UMLS:C3554665|ORPHA:500548|http://identifiers.org/omim/615198
MONDO:0002097	obsolete ocular melanoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002097		
MONDO:0002098	facial nerve disease	biolink:Disease	mondo	DOID:1756|ICD10:G51.9|UMLS:C0015464|ICD9:351|SCTID:422426003|MESH:D005155|NCIT:C27594|ICD10:G51|ICD9:351.9		facial nerve disease or disorder|disorder of facial nerve|disorders of the VIIth cranial nerve|disorders of the seventh nerve|facial nerve disorder|disease of facial nerve|facial neuropathy|disease or disorder of facial nerve|disorder of facial nerve|facial nerve disease|disorder of seventh cranial nerve	http://purl.obolibrary.org/obo/MONDO_0002098	A disease involving the facial nerve.	UMLS:C0015464|SNOMEDCT:422426003|MESH:D005155|NCIT:C27594|DOID:1756
MONDO:0002099	Histoplasma capsulatum infectious disease	biolink:Disease	mondo	ICD9:115.00|ICD10:B39.4|ICD9:115.0|DOID:1759|SCTID:76255006		Histoplasma capsulatum caused disease or disorder|infection caused by Histoplasma capsulatum|infection by Histoplasma capsulatum|classical histoplasmosis|small form histoplasmosis|darling's disease|Histoplasma capsulatum disease or disorder|American histoplasmosis	http://purl.obolibrary.org/obo/MONDO_0002099	An disease or disorder caused by infection with Histoplasma capsulatum.	SNOMEDCT:76255006|DOID:1759
MONDO:0002093	acanthoma (disease)	biolink:Disease	mondo	NCIT:C7419|MESH:D049309|UMLS:C0846967|GARD:0008604|HP:0025432|DOID:174		acanthoma	http://purl.obolibrary.org/obo/MONDO_0002093	A benign skin neoplasm composed of epithelial cells.	DOID:174|MESH:D049309|NCIT:C7419|UMLS:C0846967
MONDO:0002094	obsolete conjunctival squamous cell carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002094		
MONDO:0002095	vascular cancer	biolink:Disease	mondo	MESH:D009383|DOID:175|NCIT:C8538		malignant blood vessel tumor|cancer of vasculature|malignant great vessel tumor|blood vessel tumor|malignant tumor of pulmonary vein|malignant blood vessel neoplasm|Haemangiomatous tumour|blood vessel tumors|pulmonary artery cancer|malignant vasculature neoplasm|vascular tumors|malignant vascular tumor|blood vessel neoplasm|vasculature cancer|blood vessel tumor (morphologic abnormality)|neoplasm of great vessel|malignant neoplasm of vasculature|leiomyosarcoma of the renal vein|malignant vascular neoplasm|pulmonary vein malignant neoplasm|malignant tumor of pulmonary artery|blood vessel tumors (morphologic abnormality)|blood vessel tumour disorder|vascular tissue neoplasm|renal vein leiomyosarcoma|pulmonary artery malignant neoplasm	http://purl.obolibrary.org/obo/MONDO_0002095	A malignant neoplasm arising from the blood vessels.	DOID:175|MESH:D009383|NCIT:C8538
MONDO:0002096	malignant conjunctival melanoma	biolink:Disease	mondo	GARD:0010744|NCIT:C4550|SCTID:255004001|DOID:1751|UMLS:C0346360|EFO:1000204|ONCOTREE:CM		melanoma of conjunctiva|malignant melanoma of the conjunctiva|malignant conjunctival melanoma|malignant melanoma of conjunctiva|melanoma (disease) of conjunctiva|malignant conjunctiva melanoma|conjunctiva melanoma|CM|conjunctiva melanoma (disease)|melanoma of the conjunctiva|conjunctival melanoma	http://purl.obolibrary.org/obo/MONDO_0002096	A malignant melanoma within the conjunctiva of the eye.	SNOMEDCT:255004001|DOID:1751|NCIT:C4550|UMLS:C0346360
MONDO:0002090	eccrine sweat gland neoplasm	biolink:Disease	mondo	NCIT:C6796|DOID:173|UMLS:C1333371		eccrine neoplasm|eccrine tumor|neoplasm of eccrine sweat gland|eccrine sweat gland tumor|eccrine skin neoplasm|eccrine sweat gland neoplasm (disease)|eccrine neoplasm of skin|eccrine skin tumor|eccrine neoplasm of the skin|eccrine tumor of skin|tumor of eccrine sweat gland|eccrine tumor of the skin	http://purl.obolibrary.org/obo/MONDO_0002090	A neoplasm involving a eccrine sweat gland.	NCIT:C6796|UMLS:C1333371|DOID:173
MONDO:0002091	obsolete cryptosporidiosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002091		
MONDO:0002092	small intestine leiomyoma	biolink:Disease	mondo	SCTID:424279009|DOID:1738|NCIT:C7725|UMLS:C0238197		small intestinal leiomyoma|leiomyoma of the small bowel|leiomyoma of small bowel|leiomyoma, small intestine|leiomyoma, small bowel|small bowel leiomyoma|leiomyoma of the small intestine|small intestine leiomyoma|leiomyoma of small intestine	http://purl.obolibrary.org/obo/MONDO_0002092	A benign smooth muscle neoplasm arising from the small intestine. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	NCIT:C7725|DOID:1738|SNOMEDCT:424279009|UMLS:C0238197
HGNC:18957	MAGI2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18957		
MONDO:0014086	osteogenesis imperfecta type 15	biolink:Disease	mondo	DOID:0110347|UMLS:C3808844|OMIM:615220|ICD10:Q78.0		osteogenesis imperfecta caused by mutation in WNT1|osteogenesis imperfecta, type XV|osteogenesis imperfecta type XV|OI, type 15|osteogenesis imperfecta, type 15|OI15|WNT1 osteogenesis imperfecta|osteogenesis imperfecta, type XV; OI15	http://purl.obolibrary.org/obo/MONDO_0014086	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the WNT1 gene.	DOID:0110347|http://identifiers.org/omim/615220|UMLS:C3808844
MONDO:0014085	hydrocephalus, nonsyndromic, autosomal recessive 2	biolink:Disease	mondo	UMLS:C3554691|OMIM:615219		hydrocephalus, nonsyndromic, autosomal recessive 2; HYC2|MPDZ congenital hydrocephalus|HYC2|hydrocephalus, nonsyndromic, autosomal recessive 2|congenital hydrocephalus caused by mutation in MPDZ|hydrocephalus, nonsyndromic, autosomal recessive type 2	http://purl.obolibrary.org/obo/MONDO_0014085	Any congenital hydrocephalus in which the cause of the disease is a mutation in the MPDZ gene.	UMLS:C3554691|http://identifiers.org/omim/615219
MONDO:0014084	ataxia with oculomotor apraxia type 3	biolink:Disease	mondo	GARD:0013112|OMIM:615217|UMLS:C3554690|DOID:0060557		ataxia-oculomotor apraxia-3|ataxia-oculomotor apraxia type 3|ataxia-oculomotor apraxia 3; AOA3|ataxia-oculomotor apraxia 3|AOA3	http://purl.obolibrary.org/obo/MONDO_0014084		UMLS:C3554690|DOID:0060557|http://identifiers.org/omim/615217
MONDO:0014083	agammaglobulinemia 7, autosomal recessive	biolink:Disease	mondo	UMLS:C3554689|OMIM:615214		autosomal agammaglobulinemia caused by mutation in PIK3R1|agammaglobulinemia 7, autosomal recessive; AGM7|PIK3R1 autosomal agammaglobulinemia|agammaglobulinemia, autosomal recessive, due to PIK3R1 defect|AGM7|agammaglobulinemia 7, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0014083	Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene.	UMLS:C3554689|http://identifiers.org/omim/615214
MONDO:0014089	corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome	biolink:Disease	mondo	OMIM:615225|OMIM:616964|UMLS:CN204511|Orphanet:352662|ICD10:Q82.8|UMLS:C3808876	ordo_disease	palmoplantar carcinoma, multiple self-healing|MSPC|CIDED|corneal intraepithelial dyskeratosis and ectodermal dysplasia, formerly|corneal intraepithelial dyskeratosis and ectodermal dysplasia; CIDED|corneal intraepithelial dyskeratosis and ectodermal dysplasia|palmoplantar carcinoma, multiple self-healing; MSPC	http://purl.obolibrary.org/obo/MONDO_0014089		ORPHA:352662|UMLS:C3808876|http://identifiers.org/omim/615225|UMLS:CN204511|http://identifiers.org/omim/616964
MONDO:0014088	advanced sleep phase syndrome 2	biolink:Disease	mondo	UMLS:C3808874|OMIM:615224|DOID:0110012		advanced sleep phase syndrome, familial, 2|advanced sleep phase syndrome, familial, type 2|familial advanced sleep phase syndrome 2|FASPS2|advanced sleep phase syndrome type 2|advanced sleep phase syndrome caused by mutation in CSNK1D|CSNK1D advanced sleep phase syndrome|advanced sleep phase syndrome, familial, 2; FASPS2	http://purl.obolibrary.org/obo/MONDO_0014088	Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the CSNK1D gene.	DOID:0110012|http://identifiers.org/omim/615224|UMLS:C3808874
MONDO:0014087	Smith-McCort dysplasia 2	biolink:Disease	mondo	UMLS:C3714896|OMIM:615222		Smc2|Smith-McCort dysplasia 2|RAB33B Smith-McCort dysplasia|Smith-McCort dysplasia type 2|SMITH-McCort dysplasia 2; Smc2|Smith-McCort dysplasia caused by mutation in RAB33B	http://purl.obolibrary.org/obo/MONDO_0014087	Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the RAB33B gene.	UMLS:C3714896|http://identifiers.org/omim/615222
NCBITaxon:11673	Feline immunodeficiency virus	organism taxon	mondo	GC_ID:1		feline immunodeficiency virus FIV|FIV	http://purl.obolibrary.org/obo/NCBITaxon_11673		
MONDO:0014071	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	biolink:Disease	mondo	OMIM:615181|UMLS:C3554638|DOID:0111230		muscular dystrophy-dystroglycanopathy, type A caused by mutation in B3GALNT2|MDDGA11|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11; MDDGA11|Walker-Warburg syndrome or muscle-eye-brain disease, B3Galnt2-related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11|B3GALNT2 muscular dystrophy-dystroglycanopathy, type A	http://purl.obolibrary.org/obo/MONDO_0014071	Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the B3GALNT2 gene.	DOID:0111230|UMLS:C3554638|http://identifiers.org/omim/615181
NCBITaxon:11676	Human immunodeficiency virus 1	organism taxon	mondo	GC_ID:1		human immunodeficiency virus type I HIV-1|AIDS virus|human immunodeficiency virus-1 HIV-1|HIV1|human immunodeficiency virus type-1 HIV-1|human immunodeficiency virus type 1, HIV-1|human immunodeficiency virus 1 HIV-1|human immunodeficiency virus HIV-1|Human immunodeficiency virus type 1|human immunodeficiency virus type 1 HIV 1|HIV|LAV-1|HIV-1|human immunodeficiency virus type 1 HIV-1|human immunodeficiency virus type 1 HIV1	http://purl.obolibrary.org/obo/NCBITaxon_11676		
MONDO:0014070	oculocutaneous albinism type 7	biolink:Disease	mondo	OMIM:615179|UMLS:CN204524|DOID:0070100|ICD10:E70.3|SCTID:722059002|UMLS:C3808786|Orphanet:352745	ordo_disease	oculocutaneous albinism caused by mutation in LRMDA|albinism, oculocutaneous, type 7|albinism, oculocutaneous, type VII; OCA7|OCA7|albinism, oculocutaneous, type VII|oculocutaneous albinism type VII|LRMDA oculocutaneous albinism	http://purl.obolibrary.org/obo/MONDO_0014070	Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination.	http://identifiers.org/omim/615179|UMLS:C3808786|UMLS:CN204524|DOID:0070100|ORPHA:352745|SNOMEDCT:722059002
UBERON:2001089	myoseptum	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_2001089		
HP:0007754	Macular dystrophy	biolink:PhenotypicFeature	mondo	UMLS:C0730292	hposlim_core		http://purl.obolibrary.org/obo/HP_0007754	Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident.	
HGNC:18969	IL31RA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/18969		
MONDO:0014075	cataract 39 multiple types	biolink:Disease	mondo	ICD10:Q12.0|DOID:0110236|OMIM:615188|UMLS:C3808800		CTRCT39|cataract 39, multiple types|early-onset non-syndromic cataract caused by mutation in CRYGB|autosomal dominant cataract 39 multiple types|CRYGB early-onset non-syndromic cataract|cataract 39, multiple types; CTRCT39	http://purl.obolibrary.org/obo/MONDO_0014075	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYGB gene.	DOID:0110236|UMLS:C3808800|http://identifiers.org/omim/615188
MONDO:0014074	Charcot-Marie-Tooth disease dominant intermediate f	biolink:Disease	mondo	Orphanet:352670|DOID:0110206|OMIM:615185|ICD10:G60.0|GARD:0009206|UMLS:C3554654	ordo_disease	autosomal dominant intermediate Charcot-Marie-Tooth disease type F|Charcot-Marie-Tooth disease, dominant intermediate F; CMTDIF|Charcot-Marie-Tooth disease, dominant intermediate F|DI-CMTF|Charcot-Marie-Tooth disease, dominant Intermediate type F|GNB4-related intermediate Charcot-Marie-Tooth neuropathy|CMTDIF|Charcot-Marie-Tooth disease dominant intermediate type F	http://purl.obolibrary.org/obo/MONDO_0014074	Autosomal dominant intermediate Charcot-Marie-Tooth disease type F is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range.	ORPHA:352670|DOID:0110206|UMLS:C3554654|http://identifiers.org/omim/615185
MONDO:0014073	dilated cardiomyopathy 1II	biolink:Disease	mondo	ICD10:I42.0|OMIM:615184|UMLS:C3554649|DOID:0110450		dilated cardiomyopathy type 1II|cardiomyopathy, dilated, 1II; CMD1II|cardiomyopathy, dilated, type 1II|cardiomyopathy, dilated, 1II|CMD1II|familial isolated dilated cardiomyopathy caused by mutation in CRYAB|CRYAB familial isolated dilated cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0014073	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CRYAB gene.	DOID:0110450|UMLS:C3554649|http://identifiers.org/omim/615184
MONDO:0014072	D,L-2-hydroxyglutaric aciduria	biolink:Disease	mondo	DOID:0111619|UMLS:C4076194|SCTID:713401006|Orphanet:356978|OMIM:615182|ICD10:E72.8|ICD9:270.8	ordo_disease	D2L2AD|combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia|combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria|D,L-2-hydroxyglutaric acidemia|combined D-2- and L-2-hydroxyglutaric aciduria; D2L2AD|D,L-2-HGA|combined D-2- and L-2-hydroxyglutaric aciduria	http://purl.obolibrary.org/obo/MONDO_0014072	D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites.	DOID:0111619|ORPHA:356978|http://identifiers.org/omim/615182|UMLS:C4076194|SNOMEDCT:713401006
MONDO:0014079	restless legs syndrome, susceptibility to, 8	biolink:Disease	mondo	OMIM:615197	predisposition	restless legs syndrome, susceptibility to, 8; RLS8|RLS8|restless legs syndrome, susceptibility to, 8	http://purl.obolibrary.org/obo/MONDO_0014079		http://identifiers.org/omim/615197
MONDO:0014078	platelet-type bleeding disorder 15	biolink:Disease	mondo	UMLS:C3554663|DOID:0111053|OMIM:615193		ACTN1 inherited bleeding disorder, platelet-type|autosomal dominant macrothrombocytopenia ACTN1-related|bleeding disorder, platelet-type, 15|bleeding disorder, platelet-type, 15; BDPLT15|macrothrombocytopenia, autosomal dominant, ACTN1-related|inherited bleeding disorder, platelet-type caused by mutation in ACTN1|BDPLT15	http://purl.obolibrary.org/obo/MONDO_0014078	Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ACTN1 gene.	DOID:0111053|UMLS:C3554663|http://identifiers.org/omim/615193
MONDO:0014077	cobblestone lissencephaly without muscular or ocular involvement	biolink:Disease	mondo	Orphanet:352682|ICD10:Q04.3|UMLS:C3554657|OMIM:615191	ordo_disease|clingen	lissencephaly 5|lissencephaly type 2 without muscular or eye involvement|cobblestone lissencephaly without muscular or eye involvement|lissencephaly type 5|lissencephaly type 2 without muscular or ocular involvement|lissencephaly 5; LIS5|LIS5	http://purl.obolibrary.org/obo/MONDO_0014077	Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures.	ORPHA:352682|UMLS:C3554657|http://identifiers.org/omim/615191
MONDO:0014076	dyskeratosis congenita, autosomal recessive 5	biolink:Disease	mondo	DOID:0070022|UMLS:C3554656|DOID:0070020|OMIM:615190		dyskeratosis congenita, autosomal recessive type 5|dyskeratosis congenita, autosomal dominant 4|dyskeratosis congenita, autosomal recessive 5|DKCB5|dyskeratosis congenita, autosomal recessive 5; DKCB5|autosomal recessive dyskeratosis congenita 5|autosomal dominant dyskeratosis congenita 4|DKCA4	http://purl.obolibrary.org/obo/MONDO_0014076	A dyskeratosis congenita that has material basis in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33.	UMLS:C3554656|http://identifiers.org/omim/615190|DOID:0070022|DOID:0070020
MONDO:0014060	progressive retinal dystrophy due to retinol transport defect	biolink:Disease	mondo	OMIM:615147|ICD10:H35.5|UMLS:C3554593|Orphanet:352718	ordo_disease	retinal dystrophy, iris coloboma, and comedogenic acne syndrome|retinal dystrophy, iris coloboma, and comedogenic acne syndrome; RDCCAS|retinol dystrophy-iris coloboma-comedogenic acne syndrome|RDCCAS	http://purl.obolibrary.org/obo/MONDO_0014060		ORPHA:352718|UMLS:C3554593|http://identifiers.org/omim/615147
MONDO:0002079	obsolete neuroendocrine tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002079		
NCBITaxon:11646	Lentivirus	organism taxon	mondo	GC_ID:1		Lentivirinae	http://purl.obolibrary.org/obo/NCBITaxon_11646		
MONDO:0002075	spontaneous tension pneumothorax	biolink:Disease	mondo	UMLS:C0155907|ICD10:J93.0|SCTID:196102003|ICD9:512.0|DOID:1672|COHD:258787			http://purl.obolibrary.org/obo/MONDO_0002075		SNOMEDCT:196102003|UMLS:C0155907|DOID:1672
MONDO:0002076	pneumothorax (disease)	biolink:Disease	mondo	SCTID:36118008|ICD10:J93.1|NCIT:C38006|ICD9:512.8|COHD:253796|DOID:1673|HP:0002107|MESH:D011030		pneumothorax	http://purl.obolibrary.org/obo/MONDO_0002076	Abnormal presence of air in the pleural cavity.	SNOMEDCT:36118008|MESH:D011030|NCIT:C38006|DOID:1673
MONDO:0002077	low implantation of placenta	biolink:Disease	mondo	ICD9:641.0|DOID:1677|SCTID:7792000|ICD10:O44.0			http://purl.obolibrary.org/obo/MONDO_0002077		SNOMEDCT:7792000|DOID:1677
MONDO:0002078	heart septal defect	biolink:Disease	mondo	ICD9:745.9|SCTID:253273004|NCIT:C84482|UMLS:C0018816|ICD9:745.8|ICD10:Q21|MESH:D006343|COHD:318549|DOID:1681|ICD10:Q21.9		Cardiac septal defects|septal defect NOS|holes in the heart|congenital septal defect|septal defect|congenital septal defect of heart	http://purl.obolibrary.org/obo/MONDO_0002078	A congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum.	NCIT:C84482|DOID:1681|UMLS:C0018816|SNOMEDCT:253273004|MESH:D006343
MONDO:0002071	supratentorial cancer	biolink:Disease	mondo	ICD10:C71.0|NCIT:C4964|DOID:1659|MESH:D015173		brain neoplasm, supratentorial|malignant supratentorial neoplasm|malignant supratentorial tumor|supratentorial neoplasms, malignant	http://purl.obolibrary.org/obo/MONDO_0002071	Primary and metastatic (secondary) tumors of the brain located above the tentorium cerebelli, a fold of dura mater separating the CEREBELLUM and brain STEM from the cerebral hemispheres and DIENCEPHALON (i.e., THALAMUS and HYPOTHALAMUS and related structures). In adults, primary neoplasms tend to arise in the supratentorial compartment, whereas in children they occur more frequently in the infratentorial space. Clinical manifestations vary with the location of the lesion, but SEIZURES; APHASIA; HEMIANOPSIA; hemiparesis; and sensory deficits are relatively common features. Metastatic supratentorial neoplasms are frequently multiple at the time of presentation.	NCIT:C4964|DOID:1659|MESH:D015173
MONDO:0002072	melanotic neuroectodermal tumor	biolink:Disease	mondo	EFO:1001038|MESH:D017600|UMLS:C0206094|ICDO:9363/0|SCTID:404042005|NCIT:C3717|DOID:166		pigmented neuroectodermal tumour of infancy|infantile melanotic neuroectodermal neoplasm|pigmented neuroectodermal tumor|MNTI|melanotic neuroectodermal tumor (morphologic abnormality)|melanotic neuroectodermal tumor of infancy|melanotic neuroectodermal tumor of infancy (morphologic abnormality)|melanotic Progonoma|retinal anlage neoplasm	http://purl.obolibrary.org/obo/MONDO_0002072	A rare neoplasm usually occurring in infants. It is characterized by the presence of a mixture of melanin-containing epithelial cells and smaller neuroblast-like cells. It may involve the skull and facial bones, or the epididymis. It usually has a benign clinical course.	NCIT:C3717|DOID:166|UMLS:C0206094|SNOMEDCT:404042005|MESH:D017600
MONDO:0002073	malignant pineal area germ cell neoplasm	biolink:Disease	mondo	UMLS:C0349621|ICD9:239.7|GARD:0012017|SCTID:277508009|UMLS:C1334612|DOID:1660|NCIT:C6767	gard_rare	malignant pineal parenchymal germ cell tumor|pineal region germinoma|malignant germ cell tumor of pineal gland|malignant germ cell neoplasm of the pineal parenchyma|malignant germ cell tumor of the pineal gland|pineal germ cell tumor|malignant germ cell neoplasm of pineal parenchyma|pineal region germ cell tumor|malignant pineal area germ cell tumor|pineal germ cell neoplasm, malignant|pineal cell tumour|malignant pineal region germ cell neoplasm|malignant pineal gland germ cell tumor|pineal cell tumor|malignant germ cell neoplasm of pineal gland|malignant germ cell neoplasm of the pineal gland|malignant pineal parenchymal germ cell neoplasm|malignant germ cell tumor of the pineal parenchyma|malignant germ cell tumor of pineal parenchyma|malignant pineal gland germ cell neoplasm|malignant pineal region germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0002073	A malignant germ cell tumor that arises in the pineal region. Representative examples include germinoma, immature teratoma, choriocarcinoma, embryonal carcinoma and yolk sac tumor.	UMLS:C1334612|SNOMEDCT:277508009|NCIT:C6767|UMLS:C0349621|DOID:1660
MONDO:0002074	Behcet syndrome arthropathy	biolink:Disease	mondo	NCIT:C35225|SCTID:62918002|ICD9:711.20|ICD9:711.28|UMLS:C0157770|ICD9:711.26|ICD9:711.2|ICD9:711.23|DOID:1670		arthropathy in Behcet's syndrome involving multiple sites|Behcet syndrome arthropathy|arthropathy in Behcet's syndrome involving forearm|arthropathy in Behcet's syndrome involving lower leg|arthropathy in Behcet's syndrome involving upper arm|arthropathy in Behcet's syndrome|arthropathy in Behcet's syndrome involving pelvic region and thigh|arthropathy in Behcet's syndrome involving ankle and foot|Behcet's syndrome arthropathy|arthropathy in Behcet's syndrome involving hand|arthropathy in Behcet's syndrome involving shoulder region	http://purl.obolibrary.org/obo/MONDO_0002074	Arthropathy resulting from Behcet's syndrome.	SNOMEDCT:62918002|NCIT:C35225|UMLS:C0157770|DOID:1670
MONDO:0026045	prurigo nodularis	biolink:Disease	mondo	GARD:0007480	gard_rare		http://purl.obolibrary.org/obo/MONDO_0026045	Prurigonodularis (PN) is a skin disease in which hard crusty lumps are formed on the skin that itches intensely. Repetitive rubbing, scratching, and touching results in more lesions in the skin. The itching is so intense that people scratch themselves to the point of bleeding or pain. The lumps formed in the skin are hard, and have about a half inch across, with a dry and rough top that is often scratched open. They tend to be located in the areas most easily reached and are worse on the outer sides: arms, shoulders and legs. The trunk, face and even palms can also be affected. The exact cause is unknown but some factors triggering PN include liver and kidneys problems, nervous and mental conditions and other skin diseases. Prurigo nodulares, in some cases, can be seen in other diseases such as lymphoma, chronic autoimmune cholestatic hepatitis, HIV infection, severe anemia,or a chronic kidney disease-related itching known as uremic pruritus. Treatment is very difficult, and may include corticoids, antihistaminic and other medication such as thalidomide and similar (Lenalidomide). In some cases, cryotherapy, photochemotherapy and habit reversal therapy for the itch-scratch cycle has improved the symptoms. PN can last for many years, and the itching is so intense that may affect all the everyday activities.	
MONDO:0002070	ventricular septal defect (disease)	biolink:Disease	mondo	DOID:1657|OMIMPS:614429|HP:0001629|ICD9:745.4|SCTID:30288003|NCIT:C84506|MESH:D006345|GARD:0007853|ICD10:Q21.0|COHD:434462		interventricular septal defect|ventricular septal defects|ventricular septal abnormality|heart septal defects, ventricular|ventricular septal defect|VSD	http://purl.obolibrary.org/obo/MONDO_0002070	The presence of a defect (opening) in the septum that separates the two ventricles of the heart. It can be congenital or acquired.	SNOMEDCT:30288003|MESH:D006345|DOID:1657|NCIT:C84506
MONDO:0014069	syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome	biolink:Disease	mondo	OMIM:615170|Orphanet:357332|ICD10:Q87.2|UMLS:C3554611	ordo_malformation_syndrome	WAHAB syndrome|Wahab syndrome|Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome|camptodactyly, clinodactyly, syndactyly, and bifid toe syndrome	http://purl.obolibrary.org/obo/MONDO_0014069		ORPHA:357332|UMLS:C3554611|http://identifiers.org/omim/615170
MONDO:0014064	mitochondrial complex III deficiency nuclear type 3	biolink:Disease	mondo	UMLS:C3554606|OMIM:615158|DOID:0080112		mitochondrial complex III deficiency, nuclear type 3|mitochondrial complex III deficiency caused by mutation in UQCRB|mitochondrial Complex 3 deficiency, nuclear type 3|MC3DN3|mitochondrial complex III deficiency, nuclear type 3; MC3DN3|UQCRB mitochondrial complex III deficiency	http://purl.obolibrary.org/obo/MONDO_0014064	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRB gene.	DOID:0080112|UMLS:C3554606|http://identifiers.org/omim/615158
MONDO:0014063	mitochondrial complex III deficiency nuclear type 2	biolink:Disease	mondo	OMIM:615157|DOID:0060351|UMLS:C3554605		TTC19 mitochondrial complex III deficiency|mitochondrial complex III deficiency, nuclear type 2|mitochondrial Complex 3 deficiency, nuclear type 2|mitochondrial complex III deficiency, nuclear type 2; MC3DN2|MC3DN2|mitochondrial complex III deficiency caused by mutation in TTC19	http://purl.obolibrary.org/obo/MONDO_0014063	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the TTC19 gene.	DOID:0060351|UMLS:C3554605|http://identifiers.org/omim/615157
MONDO:0014062	mitochondrial DNA deletion syndrome with progressive myopathy	biolink:Disease	mondo	DOID:0111519|UMLS:C3554599|OMIM:615156|ICD10:G71.3|Orphanet:352470	ordo_disease	mtDNA deletion syndrome with progressive myopathy|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6|PEOA6|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 6|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6; PEOA6|mitochondrial DNA deletion syndrome with limb-girdle weakness|progressive external ophthalmoplegia, autosomal dominant 6|mtDNA deletion syndrome with limb-girdle weakness	http://purl.obolibrary.org/obo/MONDO_0014062		ORPHA:352470|DOID:0111519|UMLS:C3554599|http://identifiers.org/omim/615156
MONDO:0014061	Steel syndrome	biolink:Disease	mondo	OMIM:615155|ICD10:Q87.5|UMLS:C3554594|Orphanet:438117	ordo_disease	steel syndrome|steel syndrome; STLS|bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome|STLS|dislocated hips and radial heads, carpal coalition, scoliosis, and short stature	http://purl.obolibrary.org/obo/MONDO_0014061		UMLS:C3554594|http://identifiers.org/omim/615155|ORPHA:438117
MONDO:0014068	cone-rod dystrophy 17	biolink:Disease	mondo	DOID:0111023|UMLS:C3554610|OMIM:615163		cone-rod dystrophy 17; CORD17|cone-rod dystrophy type 17|cone-rod dystrophy 17|CORD17	http://purl.obolibrary.org/obo/MONDO_0014068	A cone-rod dystrophy that has material basis in variation in the chromosome region 10q26.	DOID:0111023|UMLS:C3554610|http://identifiers.org/omim/615163
MONDO:0014067	short ulna-dysmorphism-hypotonia-intellectual disability syndrome	biolink:Disease	mondo	ICD10:Q87.8|UMLS:C3554609|Orphanet:357175|OMIM:615162	ordo_malformation_syndrome	mental retardation, autosomal recessive 35|intellectual disability, autosomal recessive 35|MRT35|mental retardation, autosomal recessive 35; MRT35|intellectual disability, autosomal recessive 35; MRT35	http://purl.obolibrary.org/obo/MONDO_0014067		ORPHA:357175|UMLS:C3554609|http://identifiers.org/omim/615162
MONDO:0014066	mitochondrial complex III deficiency nuclear type 5	biolink:Disease	mondo	DOID:0080114|UMLS:C3554608|OMIM:615160		UQCRC2 mitochondrial complex III deficiency|mitochondrial complex III deficiency, nuclear type 5|mitochondrial complex III deficiency caused by mutation in UQCRC2|mitochondrial Complex 3 deficiency, nuclear type 5|mitochondrial complex III deficiency, nuclear type 5; MC3DN5|MC3DN5	http://purl.obolibrary.org/obo/MONDO_0014066	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRC2 gene.	DOID:0080114|UMLS:C3554608|http://identifiers.org/omim/615160
MONDO:0014065	mitochondrial complex III deficiency nuclear type 4	biolink:Disease	mondo	UMLS:C3554607|OMIM:615159|DOID:0080113		mitochondrial complex III deficiency, nuclear type 4|mitochondrial complex III deficiency caused by mutation in UQCRQ|MC3DN4|mitochondrial Complex 3 deficiency, nuclear type 4|mitochondrial complex III deficiency, nuclear type 4; MC3DN4|UQCRQ mitochondrial complex III deficiency	http://purl.obolibrary.org/obo/MONDO_0014065	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRQ gene.	DOID:0080113|UMLS:C3554607|http://identifiers.org/omim/615159
NCBITaxon:11653	Ovine/caprine lentivirus group	organism taxon	mondo	GC_ID:1		Ovine/caprine lentiviruses|Ovine/caprine lentivirus	http://purl.obolibrary.org/obo/NCBITaxon_11653		
NCBITaxon:11652	Primate lentivirus group	organism taxon	mondo	GC_ID:1		Primate immunodeficiency viruses	http://purl.obolibrary.org/obo/NCBITaxon_11652		
NCBITaxon:11655	Feline lentivirus group	organism taxon	mondo	GC_ID:1		Feline lentiviruses	http://purl.obolibrary.org/obo/NCBITaxon_11655		
MONDO:0002086	clear cell acanthoma	biolink:Disease	mondo	DOID:172|SCTID:254670002|UMLS:C0333992|NCIT:C97041		Degos acanthoma|pale (clear cell) acanthoma|clear cell acanthoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0002086	An acanthoma characterized by the presence of psoriasiform epidermal acanthosis and basal cells with pale cytoplasm.	UMLS:C0333992|SNOMEDCT:254670002|DOID:172|NCIT:C97041
MONDO:0002087	peritoneum cancer	biolink:Disease	mondo	ICD9:158.9|SCTID:363492001|ICD9:159.8|ICD10:C48.1|NCIT:C3538|ICD9:158.8|UMLS:C0153467|DOID:1725		peritoneal cavity cancer|malignant neoplasm of peritoneum|cancer of the peritoneum|malignant peritoneal neoplasm|peritoneal neoplasm|cancer of peritoneum|peritoneum cancer|peritoneal cancer|malignant peritoneum neoplasm	http://purl.obolibrary.org/obo/MONDO_0002087	A malignant neoplasm involving the peritoneum	NCIT:C3538|SNOMEDCT:363492001|DOID:1725|UMLS:C0153467
MONDO:0002088	partial retinal vein occlusion	biolink:Disease	mondo	ICD10:H34.82|UMLS:C0271080|NCIT:C35341|SCTID:65593009|DOID:1726		partial retinal vein occlusion|partial occlusion of retinal vein	http://purl.obolibrary.org/obo/MONDO_0002088		UMLS:C0271080|NCIT:C35341|SNOMEDCT:65593009|DOID:1726
MONDO:0002089	retinal vascular occlusion	biolink:Disease	mondo	UMLS:C0035326|ICD10:H34.9|ICD10:H34|NCIT:C34980|SCTID:73757007|ICD9:362.30|DOID:1729|ICD9:362.3|COHD:440392		retinal vascular occlusion|retinal vascular occlusion, unspecified|retinal vasc. occlusion	http://purl.obolibrary.org/obo/MONDO_0002089	An occlusion of the retinal vasculature.	NCIT:C34980|UMLS:C0035326|DOID:1729|SNOMEDCT:73757007
MONDO:0002082	endocrine gland neoplasm	biolink:Disease	mondo	ICD9:239.7|SCTID:387922007|NCIT:C3010|EFO:0003769		endocrine system neoplasm|endocrine gland neoplasm (disease)|neoplasm of endocrine gland|endocrine gland tumor|endocrine system tumor|malignant endocrine tumor|tumor of endocrine gland|endocrine tumor|endocrine neoplasm	http://purl.obolibrary.org/obo/MONDO_0002082	A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma.	SNOMEDCT:387922007|NCIT:C3010
MONDO:0002083	Richter syndrome	biolink:Disease	mondo	ICD10:C91.1|NCIT:C35424|UMLS:C0349631|DOID:1703|GARD:0007578|SCTID:277550009		Richter's syndrome|Richter's transformation|Richter transformation|Richter syndrome	http://purl.obolibrary.org/obo/MONDO_0002083	Transformation of chronic lymphocytic leukemia into aggressive non-Hodgkin's lymphoma, usually diffuse large B-cell lymphoma (immunoblastic or centroblastic variant). Occasional cases of transformation to Hodgkin's lymphoma have also been described, particularly in patients treated with purine nucleotide analogues. Molecular genetic studies suggest that in approximately half of the cases, the lymphoma is clonally related to the underlying chronic lymphocytic leukemia, whereas in the remaining cases the lymphoma probably represents a secondary, unrelated neoplasm.	NCIT:C35424|UMLS:C0349631|DOID:1703|SNOMEDCT:277550009
MONDO:0002084	obsolete neuroectodermal tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002084		
MONDO:0002085	benign shuddering attacks	biolink:Disease	mondo	SCTID:446995005|UMLS:C0375200|ICD9:333.93|ICD10:G25.83|DOID:1713			http://purl.obolibrary.org/obo/MONDO_0002085		SNOMEDCT:446995005|DOID:1713|UMLS:C0375200
MONDO:0014059	microphthalmia, isolated, with coloboma 9	biolink:Disease	mondo	OMIM:615145|UMLS:C3554592		microphthalmia, isolated, with coloboma caused by mutation in TENM3|microphthalmia, isolated, with coloboma type 9|microphthalmia, isolated, with coloboma 9|MCOPCB9|microphthalmia, isolated, with coloboma 9; MCOPCB9|TENM3 microphthalmia, isolated, with coloboma	http://purl.obolibrary.org/obo/MONDO_0014059	Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the TENM3 gene.	http://identifiers.org/omim/615145|UMLS:C3554592
MONDO:0002080	obsolete congenital ichthyosiform erythroderma (disease)	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002080		
MONDO:0002081	musculoskeletal system disease	biolink:Disease	mondo	UMLS:C0026857|SCTID:928000|MESH:D009140|NCIT:C107377|ICD9:729.99|DOID:17		musculoskeletal disorder|musculoskeletal system disease or disorder|musculoskeletal disease|disorder of musculoskeletal system|disease of musculoskeletal system|disease or disorder of musculoskeletal system|musculoskeletal system disorder|disorder of musculoskeletal system|musculoskeletal system disease	http://purl.obolibrary.org/obo/MONDO_0002081	A disease involving the musculoskeletal system.	MESH:D009140|UMLS:C0026857|NCIT:C107377|DOID:17|SNOMEDCT:928000
MONDO:0014058	facial dysmorphism-immunodeficiency-livedo-short stature syndrome	biolink:Disease	mondo	OMIM:615139|Orphanet:352712|ICD10:Q87.1|UMLS:C3554576	ordo_disease	facial dysmorphism, immunodeficiency, livedo, and short stature; fils|fils syndrome|fils|facial dysmorphism, immunodeficiency, livedo, and short stature	http://purl.obolibrary.org/obo/MONDO_0014058	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer.	http://identifiers.org/omim/615139|ORPHA:352712|UMLS:C3554576
GO:0035556	intracellular signal transduction	biolink:OntologyClass	mondo			protein kinase cascade|intracellular signaling pathway|signal transduction via intracellular signaling cascade|intracellular signaling chain|intracellular protein kinase cascade|intracellular signaling cascade|intracellular signal transduction pathway|signal transmission via intracellular cascade	http://purl.obolibrary.org/obo/GO_0035556	The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.	
MONDO:0014053	stomatin-like protein-2, hyperphosphorylation of	biolink:Disease	mondo	OMIM:615121		stomatin-like protein-2, hyperphosphorylation of|hyperphosphorylated Paratarg-7	http://purl.obolibrary.org/obo/MONDO_0014053		http://identifiers.org/omim/615121
MONDO:0014052	congenital myasthenic syndrome 8	biolink:Disease	mondo	UMLS:C3808739|DOID:0110657|OMIM:615120		congenital myasthenic syndrome type 8|myasthenic syndrome, congenital, with Pre- and postsynaptic defects|congenital myasthenic syndrome 8 with pre- and postsynaptic defects|myasthenic syndrome, congenital, 8; CMS8|myasthenic syndrome, congenital, type 8|congenital myasthenic syndrome due to agrin deficiency|CMS8|AGRN congenital myasthenic syndrome|congenital myasthenic syndrome caused by mutation in AGRN|myasthenic syndrome, congenital, 8|myasthenic syndrome, congenital, due to agrin deficiency	http://purl.obolibrary.org/obo/MONDO_0014052	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the AGRN gene.	DOID:0110657|UMLS:C3808739|http://identifiers.org/omim/615120
MONDO:0014051	cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2	biolink:Disease	mondo	DOID:0080358|OMIM:615119|UMLS:C3554534		COX15 fatal infantile encephalocardiomyopathy|cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 2|fatal infantile encephalocardiomyopathy caused by mutation in COX15|cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2|CEMCOX2|cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2; CEMCOX2	http://purl.obolibrary.org/obo/MONDO_0014051	Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COX15 gene.	DOID:0080358|UMLS:C3554534|http://identifiers.org/omim/615119
MONDO:0014050	isolated microphthalmia 8	biolink:Disease	mondo	UMLS:C3554524|OMIM:615113|DOID:0060841|ICD10:Q11.0		microphthalmia, isolated 8|MCOP8|ALDH1A3 isolated microphthalmia|microphthalmia, isolated type 8|isolated microphthalmia caused by mutation in ALDH1A3|microphthalmia, isolated 8; MCOP8|isolated microphthalmia type 8	http://purl.obolibrary.org/obo/MONDO_0014050	Any isolated microphthalmia in which the cause of the disease is a mutation in the ALDH1A3 gene.	UMLS:C3554524|http://identifiers.org/omim/615113|DOID:0060841
MONDO:0014057	maple syrup urine disease, mild variant	biolink:Disease	mondo	UMLS:C3554575|OMIM:615135		maple syrup urine disease, mild variant; MSUDMV|maple syrup urine disease, mild variant|MSUDMV	http://purl.obolibrary.org/obo/MONDO_0014057		http://identifiers.org/omim/615135|UMLS:C3554575
MONDO:0014056	melanoma, cutaneous malignant, susceptibility to, 9	biolink:Disease	mondo	OMIM:615134	predisposition	melanoma, cutaneous malignant, susceptibility to, type 9|CMM9|melanoma, cutaneous malignant, susceptibility to, 9|susceptibility to cutaneous malignant melanoma 9|melanoma, cutaneous malignant, susceptibility to, 9; CMM9	http://purl.obolibrary.org/obo/MONDO_0014056		http://identifiers.org/omim/615134
MONDO:0014055	FAME4	biolink:Disease	mondo	UMLS:C3554560|DOID:0111693|OMIM:615127		epilepsy, familial ADULT myoclonic, 4; FAME4|epilepsy, familial ADULT myoclonic, 4|cortical myoclonic tremor with epilepsy, familial, 4|FAME4	http://purl.obolibrary.org/obo/MONDO_0014055		DOID:0111693|UMLS:C3554560|http://identifiers.org/omim/615127
MONDO:0014054	lymphoproliferative syndrome 2	biolink:Disease	mondo	ICD10:D47.9|UMLS:C3554540|DOID:0060708|OMIM:615122		lymphoproliferative syndrome type 2|CD27 deficiency|lymphoproliferative syndrome caused by mutation in CD27|CD27 lymphoproliferative syndrome|LPFS2|lymphoproliferative syndrome 2; LPFS2|lymphoproliferative syndrome 2	http://purl.obolibrary.org/obo/MONDO_0014054	Any lymphoproliferative syndrome in which the cause of the disease is a mutation in the CD27 gene.	UMLS:C3554540|DOID:0060708|http://identifiers.org/omim/615122
MONDO:0004636	lip carcinoma in situ	biolink:Disease	mondo	SCTID:92643000|DOID:8661|NCIT:C4588|UMLS:C0347082|ICD9:230.0|ICD10:D00.0|UMLS:C4316815		lip in situ carcinoma|stage 0 Lip cancer|stage 0 carcinoma of the Lip|stage 0 carcinoma of Lip|carcinoma in situ of lip|carcinoma in situ of the Lip|stage 0 cancer of the Lip|stage 0 cancer of Lip|stage 0 Lip cancer aJCC v7|stage 0 Lip cancer aJCC v6|stage 0 Lip cancer aJCC v6 and v7|stage 0 lip carcinoma	http://purl.obolibrary.org/obo/MONDO_0004636	A in situ carcinoma that involves the lip.	NCIT:C4588|DOID:8661|SNOMEDCT:92643000|UMLS:C4316815|UMLS:C0347082
UBERON:0013491	cervical fascia	biolink:AnatomicalEntity	mondo			fascia of neck	http://purl.obolibrary.org/obo/UBERON_0013491	Any fascia tissue that is part of the neck region.	
MONDO:0004635	postcricoid region cancer	biolink:Disease	mondo	DOID:8660|ICD9:148.0|UMLS:C0496769|ICD10:C13.0|SCTID:363400004|NCIT:C9323		malignant postcricoid neoplasm|malignant postcricoid tumor|malignant tumor of postcricoid area|malignant tumor of the postcricoid area|malignant tumor of pharyngoesophageal junction|malignant neoplasm of postcricoid area|malignant neoplasm of the postcricoid area	http://purl.obolibrary.org/obo/MONDO_0004635	A primary or metastatic malignant neoplasm that affects the postcricoid region.	DOID:8660|UMLS:C0496769|SNOMEDCT:363400004|NCIT:C9323
MONDO:0004638	lymphosarcoma	biolink:Disease	mondo	DOID:8675|SCTID:188498009|ICD9:200.7|ICD9:200.10|GARD:0006946|NCIT:C26919|COHD:200662|ICD10:C85.9|ICD9:200.1|ICD9:200.0|ICD10:C85.0	gard_rare	malignant lymphoma (category)|diffuse lymphoma|malignant lymphoma|lymphosarcoma	http://purl.obolibrary.org/obo/MONDO_0004638	An antiquated term that refers to a non-Hodgkin lymphoma composed of small and medium sized lymphocytes.	DOID:8675|NCIT:C26919|SNOMEDCT:188498009
UBERON:0013493	abdominal fascia	biolink:AnatomicalEntity	mondo			fascia of abdomen|endo-abdominopelvic fascia	http://purl.obolibrary.org/obo/UBERON_0013493	A fascia that is part of a abdomen.	
MONDO:0004637	aryepiglottic fold cancer	biolink:Disease	mondo	DOID:8663|ICD9:148.2|SCTID:187708004|ICD10:C13.1		malignant tumor aryepiglottic fold - hypopharyngeal aspect|cancer of aryepiglottic fold|aryepiglottic fold cancer|malignant neoplasm of hypopharyngeal aspect of aryepiglottic fold|malignant neoplasm of aryepiglottic fold|malignant aryepiglottic fold neoplasm	http://purl.obolibrary.org/obo/MONDO_0004637	A malignant neoplasm involving the aryepiglottic fold.	SNOMEDCT:187708004|DOID:8663
MONDO:0004632	obsolete Hodgkin's granuloma	biolink:Disease	mondo	ICD9:201.9|COHD:4041797|ICD9:201.7|ICD10:C81.4|ICD9:201.6|ICDO:9661/3|ICD10:C81.3|SCTID:118602004|ICD10:C81.2|ICD9:201.4|ICD10:C81.0|ICD9:201.2|ICD10:C81|ICD9:201.1|ICD9:201.0|ICD9:201|DOID:8651|ICD10:C81.9|NCIT:C6914		Hodgkin's granuloma of unspecified site|Hodgkin's granuloma|Hodgkin's granuloma, unspecified site, extranodal and solid organ sites|Hodgkin granuloma	http://purl.obolibrary.org/obo/MONDO_0004632	An obsolete term referring to Hodgkin lymphoma.	DOID:8651|SNOMEDCT:118602004|NCIT:C6914
MONDO:0004631	tongue cancer	biolink:Disease	mondo	ICD9:141.6|SCTID:363360003|ICD9:141.5|ICD10:C02.4|NCIT:C9345|ICD9:141.3|ICD10:C02.2|COHD:440655|ICD9:141.2|ICD10:C02.1|DOID:8649|ICD9:141.1|ICD10:C02.0|MESH:D014062|ICD9:141.0|GARD:0007779|ICD9:141|ICD10:C01|ICD10:C02.9|ICD9:141.9|ICD9:141.4	gard_rare	malignant tumor of posterior tongue|malignant tumor of lingual tonsil (disorder)|cancer of tongue|tongue neoplasm, malignant|malignant tumor of base of tongue|malignant neoplasm of tongue|malignant tongue tumor|malignant neoplasm of dorsum of tongue|malignant tongue neoplasm|malignant neoplasm of dorsal surface of tongue|malignant neoplasm of anterior two-thirds of tongue|malignant neoplasm of tip and/or lateral border of tongue|malignant neoplasm of tip and lateral border of tongue|malignant neoplasm of ventral surface of tongue|tongue cancer|malignant neoplasm of anterior two-thirds of tongue, part unspecified|malignant neoplasm of base of tongue|malignant neoplasm of lingual tonsil|tongue neoplasm malignant|malignant neoplasm of mobile part of tongue|malignant neoplasm of fixed part of tongue|malignant neoplasm of fixed part of tongue NOS|malignant neoplasm of anterior 2/3 of tongue|malignant neoplasm of dorsal tongue|malignant neoplasm of tongue, tip and lateral border|tongue carcinoma|malignant neoplasm of tongue NOS|malignant neoplasm of dorsal tongue NOS|malignant tumor of anterior two-thirds of tongue|tongue neoplasm malignant stage unspecified|malignant neoplasm of ventral tongue surface|malignant neoplasm of border of tongue|malignant tumor of lingual tonsil|malignant neoplasm of mobile part of tongue NOS|malignant tumor of tongue|malignant neoplasm of junctional zone of tongue|malignant neoplasm of tongue, NOS|malignant tumor of the tongue|malignant neoplasm of other sites of tongue|malignant tumor of mobile part of tongue|malignant neoplasm of the tongue	http://purl.obolibrary.org/obo/MONDO_0004631	A malignant neoplasm affecting the tongue. The vast majority of cases are carcinomas.	DOID:8649|MESH:D014062|NCIT:C9345|SNOMEDCT:363360003
MONDO:0004634	vein disease	biolink:Disease	mondo	SCTID:90507008|ICD9:453|UMLS:C0235522|ICD10:I82|DOID:866		disease of vein|disorder of vein|disease or disorder of vein|vein disease|vein disease or disorder|disorder of vein	http://purl.obolibrary.org/obo/MONDO_0004634	A disease involving the vein.	SNOMEDCT:90507008|UMLS:C0235522|DOID:866
MONDO:0004633	Hodgkin's lymphoma, mixed cellularity	biolink:Disease	mondo	ICDO:9652/3|ICD9:201.6|ICD10:C81.2|SCTID:118609008|COHD:4038843|DOID:8654|NCIT:C3517|ONCOTREE:MCCHL		Hodgkin lymphoma, mixed cellularity|mixed cellularity Hodgkin lymphoma|Hodgkin's disease, mixed cellularity of unspecified site|Mixed cellularity Classic Hodgkin lymphoma|MCHL|mixed cellularity Hodgkin's disease|Hodgkin's disease mixed cellularity|MCCHL|mixed cellularity Hodgkin's lymphoma|mixed cellularity classical Hodgkin lymphoma|Hodgkin's disease, mixed cellularity|Hodgkin's lymphoma mixed cellularity	http://purl.obolibrary.org/obo/MONDO_0004633	A subtype of classical Hodgkin lymphoma with scattered Reed-Sternberg and Hodgkin cells in a diffuse or vaguely nodular mixed inflammatory background without nodular sclerosing fibrosis. (WHO, 2008)	DOID:8654|NCIT:C3517|SNOMEDCT:118609008
MONDO:0004630	substance-induced psychosis	biolink:Disease	mondo	DOID:8646|ICD9:293.89			http://purl.obolibrary.org/obo/MONDO_0004630		DOID:8646
MONDO:0016618	rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies	biolink:Disease	mondo	Orphanet:247861|ICD10:M08.3	ordo_etiological_subtype	juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies|rheumatoid factor-negative JIA without anti-nuclear antibodies|polyarthritis without rheumatoid factor without anti-nuclear antibodies	http://purl.obolibrary.org/obo/MONDO_0016618		ORPHA:247861
NCBITaxon:155616	Tremellomycetes	organism taxon	mondo	GC_ID:1|PMID:26955199		Tremellomycetidae|Heterobasidiomycetes	http://purl.obolibrary.org/obo/NCBITaxon_155616		
MONDO:0016619	autosomal recessive hypohidrotic ectodermal dysplasia	biolink:Disease	mondo	UMLS:C0406702|SCTID:27025001|ICD10:Q82.4|MESH:D053360|NCIT:C84580|Orphanet:248|GARD:0002057	gard_rare|ordo_etiological_subtype	AR-HED|autosomal recessive anhidrotic ectodermal dysplasia|hypohidrotic ectodermal dysplasia autosomal recessive|hypohidrotic ectodermal dysplasia, autosomal recessive|anhidrotic ectodermal dysplasia, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0016619	A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations.	NCIT:C84580|UMLS:C0406702|ORPHA:248|SNOMEDCT:27025001|MESH:D053360
UBERON:0013498	vestibulo-cochlear VIII ganglion complex	biolink:AnatomicalEntity	mondo			vestibulocochlear VIII ganglion complex|vestibulocochlear ganglion complex|vestibular VIII ganglion complex	http://purl.obolibrary.org/obo/UBERON_0013498		
MONDO:0016625	acquired deficiency anemia	biolink:Disease	mondo	UMLS:CN226976|Orphanet:248302	ordo_group_of_disorders	rare acquired deficiency anemia	http://purl.obolibrary.org/obo/MONDO_0016625	An instance of deficiency anemia that is acquired during the lifetime of the individual.	UMLS:CN226976|ORPHA:248302
MONDO:0016626	hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency	biolink:Disease	mondo	Orphanet:248305|ICD10:D55.2	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016626		ORPHA:248305
MONDO:0016627	obsolete rare hemorrhagic disorder	biolink:Disease	mondo	Orphanet:248308|UMLS:CN226978	obsoletion_candidate|ordo_group_of_disorders	rare coagulopathy|rare bleeding disorder	http://purl.obolibrary.org/obo/MONDO_0016627		UMLS:CN226978|ORPHA:248308
MONDO:0016628	hemorrhagic disorder due to a coagulation factors defect	biolink:Disease	mondo	UMLS:CN226979|Orphanet:248315	ordo_group_of_disorders	rare bleeding disorder due to a coagulation factors defect|rare coagulopathy due to a coagulation factor defect	http://purl.obolibrary.org/obo/MONDO_0016628		UMLS:CN226979|ORPHA:248315
MONDO:0016621	juvenile Huntington disease	biolink:Disease	mondo	GARD:0010510|SCTID:230299004|ICD10:G10|UMLS:C0751208|NCIT:C147072|Orphanet:248111	gard_rare|ordo_disease	juvenile Huntington chorea|juvenile onset HD|JHD|Huntington disease, juvenile onset	http://purl.obolibrary.org/obo/MONDO_0016621	Juvenile Huntington disease (JHD) is a form of Huntington disease (HD), characterized by onset of signs and symptoms before 20 years of age.	NCIT:C147072|SNOMEDCT:230299004|UMLS:C0751208|ORPHA:248111
MONDO:0016622	Melhem-Fahl syndrome	biolink:Disease	mondo	UMLS:C2931453|MESH:C537238|SCTID:732263008|ICD10:Q76.4|GARD:0003462|Orphanet:2482	gard_rare|ordo_malformation_syndrome|n_of_one	Melhem Fahl syndrome|fifteen dorsal vertebrae and rib pairs	http://purl.obolibrary.org/obo/MONDO_0016622	Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.	ORPHA:2482|MESH:C537238|SNOMEDCT:732263008|UMLS:C2931453
MONDO:0016623	obsolete rare deficiency anemia	biolink:Disease	mondo	Orphanet:248293	obsoletion_candidate|ordo_group_of_disorders	rare deficiency anemia	http://purl.obolibrary.org/obo/MONDO_0016623	Any of the forms of deficiency anemia that have a rare incidence.	ORPHA:248293
MONDO:0016624	inherited deficiency anemia	biolink:Disease	mondo	Orphanet:248296	ordo_group_of_disorders	constitutional rare deficiency anemia	http://purl.obolibrary.org/obo/MONDO_0016624		ORPHA:248296
MONDO:0016620	primary hypertrophic osteoarthropathy	biolink:Disease	mondo	UMLS:C0029411|ICD10:M89.4|Orphanet:248095|DOID:14283|MESH:D010004|DC:0000680|OMIMPS:259100|NCIT:C85023	ordo_group_of_disorders	hypertrophic osteoarthropathy, primary|hypertropic osteoarthropathy, primary|pachydermoperiostosis of nail|pachydermoperiostosis syndrome|idiopathic hypertrophic osteoarthropathy|PHO|pachydermoperiostosis of nail [ambiguous]	http://purl.obolibrary.org/obo/MONDO_0016620	Primary hypertrophic osteoarthropathy (PHO) is a genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy.	DOID:14283|ORPHA:248095|MESH:D010004|NCIT:C85023|UMLS:C0029411
HGNC:8011	CNTNAP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8011		
MONDO:0004629	subacute delirium	biolink:Disease	mondo	ICD9:293.1|SCTID:191507002|COHD:379779|DOID:8645			http://purl.obolibrary.org/obo/MONDO_0004629		DOID:8645|SNOMEDCT:191507002
MONDO:0004628	gastroduodenitis	biolink:Disease	mondo	ICD9:535.4|UMLS:C0267166|SCTID:196731005|DOID:8644|ICD9:535.50		peptic ulcer gastroduodenitis|gastritis and duodenitis|gastroduodenitis	http://purl.obolibrary.org/obo/MONDO_0004628		DOID:8644|SNOMEDCT:196731005|UMLS:C0267166
MONDO:0004647	in situ carcinoma	biolink:Disease	mondo	DOID:8719|UMLS:C0007099|SCTID:109355002|ICD9:234.9|COHD:433435|ICD10:D09.9|NCIT:C2917|MESH:D002278|ICD9:234.8|ICD9:230-234.99|ICDO:8010/2		stage 0 disease|intraepithelial carcinoma|epithelial tumor, in situ, malignant|CIS|non-invasive carcinoma|carcinoma in situ|carcinoma, in situ, malignant	http://purl.obolibrary.org/obo/MONDO_0004647	A malignant epithelial neoplasm which is confined to the epithelial layer without evidence of further tissue invasion.	DOID:8719|MESH:D002278|SNOMEDCT:109355002|NCIT:C2917|UMLS:C0007099
MONDO:0004646	decubitus ulcer	biolink:Disease	mondo	SCTID:399912005|ICD10:L89|DOID:8717|ICD9:707.0|UMLS:C0011127|ICD10:L89.9|MESH:D003668|COHD:135333|ICD9:707.00|EFO:0007067		decubitus ulcer, elbow|decubitus (pressure) ulcer|decubitus ulcer any site|decubitus ulcer, other site|bedsore|decubitus ulcer, lower back|decubitus ulcer, upper back|pressure sores|pressure ulcer|decubitus ulcer	http://purl.obolibrary.org/obo/MONDO_0004646	Death of tissue due to external pressure.	DOID:8717|MESH:D003668|SNOMEDCT:399912005|UMLS:C0011127|NCIT:C50706
MONDO:0004649	anaerobic pneumonia	biolink:Disease	mondo	SCTID:409664000|UMLS:C1443976|ICD9:482.89|DOID:873|ICD9:482.81		pneumonia due to anaerobic bacteria|pneumonia due to anaerobes|pneumonia caused by anaerobic bacteria	http://purl.obolibrary.org/obo/MONDO_0004649	A pneumonia caused by anaerobic bacteria.	UMLS:C1443976|DOID:873|SNOMEDCT:409664000
MONDO:0004648	vascular dementia	biolink:Disease	mondo	EFO:0004718|ICD10:F01|ICD9:290.4|DOID:8725|MESH:D015140|NCIT:C34525|SCTID:429998004|UMLS:C0011269|ICD10:F01.5		vascular dementia|multifocal dementia|multi infarct dementia	http://purl.obolibrary.org/obo/MONDO_0004648	A degenerative vascular disorder affecting the brain. It is caused by the blockage of the blood supply to the brain. It is manifested with decline of memory and cognitive functions.	MESH:D015140|DOID:8725|NCIT:C34525|UMLS:C0011269|SNOMEDCT:429998004
CHEBI:24651	hydroxides	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_24651	Hydroxides are chemical compounds containing a hydroxy group or salts containing hydroxide (OH(-)).	
MONDO:0004643	myeloid leukemia	biolink:Disease	mondo	DOID:8692|COHD:140666|ICD9:205.80|ICD9:205|ICDO:9860/3|ICD10:C92|ICD10:C92.90|ICD9:205.9|ICD10:C92.9|SCTID:188732008|GARD:0008226|NCIT:C3172|MESH:D007951|ICD9:205.90|UMLS:C0023470	gard_rare	non-lymphoblastic leukemia|myelocytic leukemia|non-lymphocytic leukemia|myeloid granulocytic leukemia|leukemia, granulocytic, malignant|leukemia granulocytic|myeloid leukemia|leukemia myelogenous|myelogenous leukemia|leukemia myeloid	http://purl.obolibrary.org/obo/MONDO_0004643	A clonal proliferation of myeloid cells and their precursors in the bone marrow, peripheral blood, and spleen. When the proliferating cells are immature myeloid cells and myeloblasts, it is called acute myeloid leukemia. When the proliferating myeloid cells are neutrophils, it is called chronic myelogenous leukemia.	UMLS:C0023470|MESH:D007951|SNOMEDCT:188732008|NCIT:C3172|DOID:8692
MONDO:0004642	tonsillar pillar cancer	biolink:Disease	mondo	UMLS:C0153385|SCTID:187675005|ICD9:146.2|DOID:8688|ICD10:C09.1		malignant neoplasm of tonsillar pillar|malignant neoplasm of tonsillar pillars, posterior|malignant tumour of tonsillar pillar|malignant tumor of tonsillar pillar	http://purl.obolibrary.org/obo/MONDO_0004642	A cancer that involves the tonsillar pillar.	SNOMEDCT:187675005|UMLS:C0153385|DOID:8688
MONDO:0004645	cheek mucosa cancer	biolink:Disease	mondo	UMLS:C0153373|DOID:8702|NCIT:C9320|SCTID:363386008|ICD9:145.0|ICD10:C06.0		cancer of buccal mucosa|malignant buccal mucosa tumor|malignant neoplasm of the buccal mucosa|buccal mucosa cancer|malignant tumor of the buccal mucosa|malignant tumor of buccal mucosa|malignant neoplasm of buccal mucosa|malignant neoplasm of cheek, inner aspect|malignant buccal mucosa neoplasm	http://purl.obolibrary.org/obo/MONDO_0004645	A malignant neoplasm involving the buccal mucosa.	DOID:8702|NCIT:C9320|SNOMEDCT:363386008|UMLS:C0153373
MONDO:0004644	subacute monocytic leukemia	biolink:Disease	mondo	ICD9:206.2|UMLS:C0152275|ICD9:206.20|SCTID:188746008|DOID:8696|COHD:313430			http://purl.obolibrary.org/obo/MONDO_0004644		DOID:8696|SNOMEDCT:188746008|UMLS:C0152275
MONDO:0004641	skin carcinoma in situ	biolink:Disease	mondo	ICD10:D04.9|NCIT:C3640|ICD10:D04|ICD10:D04.7|ICD9:232.7|ICD10:D04.6|ICD9:232.6|ICD9:232.5|ICD10:D04.4|ICD10:D04.3|ICD9:232.4|ICD10:D04.2|COHD:138996|ICD9:232.3|DOID:8687|ICD9:232.2|UMLS:C0154073|ICD10:D04.0|ICD9:232.8|SCTID:92749008|ICD9:232.0|ICD9:232|ICD9:232.9		zone of skin carcinoma in situ|skin carcinoma stage 0|stage 0 skin cancer aJCC v7|stage 0 skin cancer aJCC v6|carcinoma in situ of the skin|stage 0 zone of skin carcinoma|carcinoma of skin stage 0|cutaneous carcinoma in situ|carcinoma of the skin stage 0|stage 0 nonmelanoma skin carcinoma in situ|skin cancer stage 0|stage 0 skin cancer|nonmelanoma carcinoma in situ|stage 0 skin carcinoma|carcinoma in situ of skin|skin carcinoma in situ|zone of skin in situ carcinoma|carcinoma in situ of zone of skin	http://purl.obolibrary.org/obo/MONDO_0004641	A in situ carcinoma that involves the zone of skin.	NCIT:C3640|UMLS:C0154073|SNOMEDCT:92749008|DOID:8687
MONDO:0004640	alcoholic gastritis	biolink:Disease	mondo	DOID:8680|COHD:195300|NCIT:C26977|ICD9:535.30|UMLS:C0156076|ICD10:K29.2|ICD9:535.3|SCTID:2043009		alcoholic gastritis, without mention of hemorrhage|alcoholic gastritis, with hemorrhage|alcoholic gastritis	http://purl.obolibrary.org/obo/MONDO_0004640	Inflammation of the stomach resulting from alcohol ingestion.	SNOMEDCT:2043009|UMLS:C0156076|NCIT:C26977|DOID:8680
MONDO:0016607	odontohypophosphatasia	biolink:Disease	mondo	Orphanet:247685|ICD10:E83.3|SCTID:708672004|NCIT:C131309|UMLS:C1840322	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0016607	Odontohypophosphatasia (odonto-HPP) is the least severe form of hypophosphatasia characterized by premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities.	UMLS:C1840322|ORPHA:247685|SNOMEDCT:708672004|NCIT:C131309
MONDO:0016608	megalencephaly (disease)	biolink:Disease	mondo	ICD10:Q04.5|ICD9:742.4|HP:0001355|MESH:D058627|SCTID:9740002|MedDRA:10050183|Orphanet:2477	ordo_malformation_syndrome	macroencephaly|megalencephaly	http://purl.obolibrary.org/obo/MONDO_0016608	A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome).	UMLS:C0221355|UMLS:C2720434|SNOMEDCT:9740002|MESH:D058627|ORPHA:2477|MEDDRA:10050183
MONDO:0016609	inflammatory myopathy with abundant macrophages	biolink:Disease	mondo	Orphanet:247718|SCTID:766706007|ICD10:G72.4|UMLS:CN201809	ordo_disease	imam	http://purl.obolibrary.org/obo/MONDO_0016609	Inflammatory myopathy with abundant macrophages is a rare inflammatory myopathy characterized by diffuse destructive infiltration of CD68+ macrophages into the fascia rather than muscle fibers in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI.	ORPHA:247718|SNOMEDCT:766706007|UMLS:CN201809
MONDO:0016614	autosomal recessive ataxia due to PEX10 deficiency	biolink:Disease	mondo	Orphanet:247815|ICD10:G11.8|UMLS:CN201819	ordo_disease	mild peroxismal disorder due to PEX10 deficiency	http://purl.obolibrary.org/obo/MONDO_0016614		ORPHA:247815|UMLS:CN201819
HGNC:8028	NTHL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8028		
MONDO:0016615	oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies	biolink:Disease	mondo	ICD10:M08.4|Orphanet:247839|UMLS:CN201823	ordo_etiological_subtype	pauciarticular chronic arthritis with anti-nuclear antibodies|oligoarticular JIA with anti-nuclear antibodies	http://purl.obolibrary.org/obo/MONDO_0016615		ORPHA:247839|UMLS:CN201823
MONDO:0016616	oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies	biolink:Disease	mondo	UMLS:CN201824|Orphanet:247846|ICD10:M08.4	ordo_etiological_subtype	pauciarticular chronic arthritis without anti-nuclear antibodies|oligoarticular JIA without anti-nuclear antibodies	http://purl.obolibrary.org/obo/MONDO_0016616		ORPHA:247846|UMLS:CN201824
MONDO:0016617	rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies	biolink:Disease	mondo	Orphanet:247854|ICD10:M08.3	ordo_etiological_subtype	rheumatoid factor-negative JIA with anti-nuclear antibodies|juvenile rheumatoid factor-negative polyarthritis with anti-nuclear antibodies|polyarthritis without rheumatoid factor with anti-nuclear antibodies	http://purl.obolibrary.org/obo/MONDO_0016617		ORPHA:247854
MONDO:0016610	idiopathic eosinophilic myositis	biolink:Disease	mondo	Orphanet:247724|ICD10:M60.8	ordo_disease	idiopathic eosinophilia-associated myopathy	http://purl.obolibrary.org/obo/MONDO_0016610		ORPHA:247724
MONDO:0016611	lipoblastoma	biolink:Disease	mondo	UMLS:C1260965|GARD:0012015|NCIT:C27483|SCTID:400102008|MESH:D062689|Orphanet:247762	ordo_disease|gard_rare	embryonic lipoma|infantile lipoma|fetal lipoma	http://purl.obolibrary.org/obo/MONDO_0016611	A lipoma usually occurring in the extremities of young children (usually boys). It is characterized by lobules of adipose tissue, separated by fibrous septa. The adipose tissue is composed of mature adipocytes and lipoblasts. The lipoblasts may be scarce, depending on the age of the patient.	MESH:D062689|UMLS:C1260965|SNOMEDCT:400102008|NCIT:C27483|ORPHA:247762
MONDO:0016612	X-linked cerebellar ataxia	biolink:Disease	mondo	DOID:0050953|Orphanet:247765|ICD10:G11.1	ordo_group_of_disorders	cerebellar ataxia, X-linked|hereditary ataxia, X-linked|X-linked hereditary ataxia	http://purl.obolibrary.org/obo/MONDO_0016612	X-linked form of cerebellar ataxia.	ORPHA:247765|DOID:0050953
MONDO:0016613	APC-related attenuated familial adenomatous polyposis	biolink:Disease	mondo	ICD10:D12.6|Orphanet:247806|UMLS:CN201818	ordo_clinical_subtype	APC-related attenuated familial polyposis coli|APC-related AFAP|APC-related attenuated FAP	http://purl.obolibrary.org/obo/MONDO_0016613		ORPHA:247806|UMLS:CN201818
NCBITaxon:574145	Demodex brevis	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_574145		
HGNC:8021	NT5E	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8021		
HGNC:8022	NT5C2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8022		
MONDO:0004639	perinatal necrotizing enterocolitis	biolink:Disease	mondo	GARD:0009767|SCTID:397729009|DOID:8677		necrotizing enterocolitis in fetus or newborn|enterocolitis, necrotizing|enterocolitis necrotizing|necrotizing enterocolitis|pseudomembranous enterocolitis in newborn|perinatal necrotising enterocolitis	http://purl.obolibrary.org/obo/MONDO_0004639	A fulminating disease of neonates in which there is extensive mucosal ulceration, pseudomembrane formation, submucosal hemorrhage, and necrosis usually of the right colon, cecum, terminal ileum, and appendix, possibly due to perinatal intestinal ischemia and bacterial invasion. Progression can lead to necrosis, perforation and/or scarring of the intestinal tract.	SNOMEDCT:397729009|DOID:8677
HGNC:8024	NTF4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8024		
MONDO:0004614	chronic monocytic leukemia	biolink:Disease	mondo	ICD9:206.11|SCTID:188745007|COHD:136056|ICD9:206.1|UMLS:C0023466|ICD10:C93.1|DOID:8593|ICD9:206.10|NCIT:C34774		monocytic leukemia, chronic	http://purl.obolibrary.org/obo/MONDO_0004614	Form of leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors (myeloid progenitor cells) in the bone marrow and other sites.	SNOMEDCT:188745007|DOID:8593|NCIT:C34774|UMLS:C0023466
CHEBI:24621	hormone	biolink:ChemicalSubstance	mondo			hormones|endocrine	http://purl.obolibrary.org/obo/CHEBI_24621	Originally referring to an endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function, the term is now commonly used to include non-endogenous, semi-synthetic and fully synthetic analogues of such compounds.	
MONDO:0004613	acute intestinal ischemia	biolink:Disease	mondo	UMLS:C0001363|DOID:8590|SCTID:91489000|NCIT:C34356|ICD9:557.0|COHD:201894		acute gastrointestinal tract vascular insuffic.|acute intestinal vascular insufficiency|acute intestinal ischemia|acute git vascular insuffic.	http://purl.obolibrary.org/obo/MONDO_0004613	Ischemia of the intestine that is rapid in onset.	SNOMEDCT:91489000|DOID:8590|UMLS:C0001363|NCIT:C34356
MONDO:0004616	herpetic whitlow	biolink:Disease	mondo	COHD:76034|ICD9:054.6|UMLS:C0153042|SCTID:43891009|DOID:8607|NCIT:C128402		Simplexvirus caused paronychia (disease)|Simplexvirus paronychia (disease)|herpetic felon	http://purl.obolibrary.org/obo/MONDO_0004616	A painful blister of the periungual skin that is caused by herpes simplex virus type 1 or 2.	UMLS:C0153042|DOID:8607|NCIT:C128402|SNOMEDCT:43891009
UBERON:0013472	upper esophagus	biolink:AnatomicalEntity	mondo			proximal part of esophagus|upper third of esophagus	http://purl.obolibrary.org/obo/UBERON_0013472	The upper one third of esophagus in which the muscle layer is composed of muscle cells of the striated type.	
MONDO:0004615	upper gum cancer	biolink:Disease	mondo	ICD9:143.0|UMLS:C0153365|ICD10:C03.0|SCTID:363383000|DOID:8601		malignant neoplasm of gingiva of upper jaw|malignant tumor of upper gingiva|malignant tumour of upper gum|gingiva of upper jaw cancer|cancer of gingiva of upper jaw|malignant gingiva of upper jaw neoplasm	http://purl.obolibrary.org/obo/MONDO_0004615	A cancer involving a gingiva of upper jaw.	SNOMEDCT:363383000|UMLS:C0153365|DOID:8601
MONDO:0004610	obsolete multiple carboxylase deficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004610		
MONDO:0004612	malignant histiocytosis	biolink:Disease	mondo	DOID:2570|ICD10:C96.A|UMLS:C0019623|NCIT:C7202|ICD9:202.3|COHD:4041104|DOID:8580|EFO:1001499|MESH:D015620|SCTID:118612006|ICDO:9750/3|ICD10:C96.1		Stewart's granuloma|malignant histiocytic disorders|malignant midline reticulosis|histiocytic disorder, malignant|malignant reticulosis|disorders, malignant histiocytic|malignant histiocytic disease|histiocytic medullary reticulosis	http://purl.obolibrary.org/obo/MONDO_0004612	Distinctive neoplastic disorders of histiocytes. Included are malignant neoplasms of macrophages and dendritic cells.	DOID:2570|SNOMEDCT:118612006|DOID:8580|MESH:D015620|NCIT:C7202|UMLS:C0019623
MONDO:0004611	soft palate cancer	biolink:Disease	mondo	UMLS:C0153376|SCTID:363388009|ICD10:C05.1|ICD9:145.3|NCIT:C3529|DOID:8578		soft palate cancer|malignant tumor of soft palate|malignant tumor of the soft palate|malignant neoplasm of soft palate|malignant soft palate neoplasm|malignant neoplasm of the soft palate|cancer of soft palate|malignant soft palate tumor	http://purl.obolibrary.org/obo/MONDO_0004611	A primary or metastatic malignant neoplasm that affects the soft palate.	UMLS:C0153376|DOID:8578|NCIT:C3529|SNOMEDCT:363388009
UBERON:0013478	cecal tonsil	biolink:AnatomicalEntity	mondo			cecal GALT|caecal tonsil	http://purl.obolibrary.org/obo/UBERON_0013478	A thickened round patch of lymphoid tissue located at the ileocecal junction adjacent to the sacculus rotundus.	
UBERON:0013479	lung endothelium	biolink:AnatomicalEntity	mondo			respiratory endothelium	http://purl.obolibrary.org/obo/UBERON_0013479	A blood vessel endothelium that is part of a lung [Automatically generated definition].	
MONDO:0016603	citrullinemia type II	biolink:Disease	mondo	Orphanet:247585|NCIT:C150603|DOID:0070342|SCTID:716863007|ICD10:E72.2	ordo_disease	citrullinemia type II|citrullinemia type 2|adult-onset type 2 citrullinemia|adult-onset citrin deficiency|CTLN2|adult-onset type II citrullinemia	http://purl.obolibrary.org/obo/MONDO_0016603	Citrullinemia type II is a severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma.	ORPHA:247585|DOID:0070342|NCIT:C150603|SNOMEDCT:716863007
UBERON:0001491	wrist joint	biolink:AnatomicalEntity	mondo			radiocarpal joint|joint of wrist|joint of carpal region|carpal region joint	http://purl.obolibrary.org/obo/UBERON_0001491	A joint connecting the forelimb zeugopod skeleton with the carpal skeleton.	
MONDO:0016604	dysraphism-cleft lip/palate-limb reduction defects syndrome	biolink:Disease	mondo	GARD:0003438|ICD10:Q00.0|UMLS:CN201798|Orphanet:2476	ordo_malformation_syndrome	dysraphism, cleft lip/palate, limb reduction defects|Medeira-Dennis-Donnai syndrome	http://purl.obolibrary.org/obo/MONDO_0016604		ORPHA:2476|UMLS:CN201798
UBERON:0001490	elbow joint	biolink:AnatomicalEntity	mondo			joint of cubital region|articulatio cubiti|joint of elbow|cubital region joint	http://purl.obolibrary.org/obo/UBERON_0001490	A joint that connects the forelimb zeugopod and stylopod skeletons[Obol].	
UBERON:0001493	axillary nerve	biolink:AnatomicalEntity	mondo			nervus axillaris|circumflex nerve|auxillery nerve|circumflex humeral nerve	http://purl.obolibrary.org/obo/UBERON_0001493	The axillary nerve is a nerve of the human body, that comes off the posterior cord of the brachial plexus at the level of the axilla (armpit) and carries nerve fibers from C5 and C6. The axillary nerve travels through the quadrangular space with the posterior circumflex humeral artery and vein. [WP,unvetted].	
MONDO:0016605	perinatal lethal hypophosphatasia	biolink:Disease	mondo	ICD10:E83.3|UMLS:C2673477|Orphanet:247623	ordo_clinical_subtype	perinatal lethal Rathburn disease|perinatal lethal phosphoethanolaminuria	http://purl.obolibrary.org/obo/MONDO_0016605	A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.	ORPHA:247623|UMLS:C2673477
MONDO:0016606	prenatal benign hypophosphatasia	biolink:Disease	mondo	UMLS:CN201801|ICD10:E83.3|Orphanet:247638	ordo_clinical_subtype	prenatal benign phosphoethanolaminuria|prenatal benign Rathburn disease	http://purl.obolibrary.org/obo/MONDO_0016606	Prenatal benign hypophosphatasia (PB-HPP) is a very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later develop into the milder infantile, childhood or adult forms of the disease.	ORPHA:247638|UMLS:CN201801
UBERON:0001492	radial nerve	biolink:AnatomicalEntity	mondo			nervus radialis	http://purl.obolibrary.org/obo/UBERON_0001492	A nerve that supplies the upper limb, including the triceps brachii muscle of the arm, as well as all 12 muscles in the posterior osteofascial compartment of the forearm, as well as the associated joints and overlying skin.	
MONDO:0016600	acute neonatal citrullinemia type I	biolink:Disease	mondo	ICD10:E72.2|Orphanet:247546|UMLS:CN201793	ordo_clinical_subtype	classic citrullinemia type I|acute neonatal citrullinemia type 1|classic citrullinemia type 1	http://purl.obolibrary.org/obo/MONDO_0016600	Acute neonatal citrullinemia type I is a severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits.	ORPHA:247546|UMLS:CN201793
MONDO:0016601	adult-onset citrullinemia type I	biolink:Disease	mondo	Orphanet:247573|UMLS:CN201794|ICD10:E72.2	ordo_clinical_subtype	adult-onset citrullinemia type 1|late-onset citrullinemia type I|late-onset citrullinemia type 1	http://purl.obolibrary.org/obo/MONDO_0016601	Adult-onset citrullinemia type I is a form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur.	ORPHA:247573|UMLS:CN201794
MONDO:0016602	citrin deficiency	biolink:Disease	mondo	UMLS:C1997910|SCTID:429735007|Orphanet:247582|ICD10:E72.2	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016602	Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency).	ORPHA:247582|UMLS:C1997910|SNOMEDCT:429735007
HGNC:8032	NTRK2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8032		
UBERON:0001499	muscle of arm	biolink:AnatomicalEntity	mondo			upper arm / lower arm muscle|arm muscle system|arm muscle|arm skeletal muscle|arm skeletal muscle tissue|muscle of upper arm or lower arm	http://purl.obolibrary.org/obo/UBERON_0001499	A muscle organ that is part of an arm [Automatically generated definition].	
GO:0060537	muscle tissue development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060537	The progression of muscle tissue over time, from its initial formation to its mature state. Muscle tissue is a contractile tissue made up of actin and myosin fibers.	
UBERON:0001498	muscle of pes	biolink:AnatomicalEntity	mondo			muscle of foot|foot muscle organ|foot muscle|muscle organ of foot	http://purl.obolibrary.org/obo/UBERON_0001498	Any muscle organ that is part of a pes [Automatically generated definition].	
HGNC:8031	NTRK1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8031		
MONDO:0004607	vallecula cancer	biolink:Disease	mondo	ICD10:C10.0|DOID:8556|UMLS:C0153386|SCTID:363395000|ICD9:146.3		epiglottic vallecula cancer|malignant tumor of vallecula|cancer of epiglottic vallecula|malignant epiglottic vallecula neoplasm|malignant neoplasm of epiglottic vallecula	http://purl.obolibrary.org/obo/MONDO_0004607	A cancer involving a epiglottic vallecula.	SNOMEDCT:363395000|UMLS:C0153386|DOID:8556
GO:0072511		biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0072511		
UBERON:0001494	ulnar nerve	biolink:AnatomicalEntity	mondo			nervus ulnaris	http://purl.obolibrary.org/obo/UBERON_0001494	A nerve which runs near the ulna bone.	
MONDO:0004606	obsolete pyoderma gangrenosum	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004606		
UBERON:0001497	muscle of pelvic girdle	biolink:AnatomicalEntity	mondo			muscle organ of girdle-pelvic|pelvic girdle muscle organ|pelvic girdle muscle|pelvic girdle skeletal muscle|muscle organ of pelvic girdle bone|muscle organ of pelvic girdle|girdle-pelvic muscle organ	http://purl.obolibrary.org/obo/UBERON_0001497	Any muscle organ that is part of a pelvic girdle [Automatically generated definition].	
MONDO:0004609	herpes simplex infectious disease	biolink:Disease	mondo	ICD10:B00.9|EFO:1002022|ICD10:B00|MESH:D006561|SCTID:88594005|DOID:8566|ICD9:054|COHD:444429|ICD9:058.89|UMLS:C0019348		Simplexvirus disease or disorder|Simplexvirus infectious disease|herpes simplex infection|Simplexvirus caused disease or disorder|Herpesvirus hominis disease|herpes simplex|herpes simplex complex|herpes simplex viral infection	http://purl.obolibrary.org/obo/MONDO_0004609	A group of acute infections caused by herpes simplex virus type 1 or type 2 that is characterized by the development of one or more small fluid-filled vesicles with a raised erythematous base on the skin or mucous membrane. It occurs as a primary infection or recurs due to a reactivation of a latent infection. (Dorland, 27th ed.)	UMLS:C0019348|MESH:D006561|DOID:8566|SNOMEDCT:88594005
MONDO:0004608	oropharynx cancer	biolink:Disease	mondo	ICD9:146.6|UMLS:C0153390|UMLS:C0153382|ICD9:146.5|ICD10:C10|DOID:8557|ICD10:C10.9|ICD10:C10.8|GARD:0009358|UMLS:C0153389|UMLS:C3165521|ICD9:146|MESH:D009959|ICD10:C10.3|EFO:1001931|ICD10:C10.2|ICD9:146.9|UMLS:C2349952|NCIT:C7398|ICD9:146.7		oropharyngeal cancer|malignant neoplasm of the oropharynx|malignant oropharyngeal tumor|malignant neoplasm of oropharynx|malignant tumour of mesopharynx|malignant neoplasm of junctional region of oropharynx|oropharyngeal carcinoma|primary malignant neoplasm of lateral wall of oropharynx|malignant tumor of posterior wall of oropharynx|oropharynx cancer|malignant tumor of oropharynx|malignant oropharyngeal neoplasm|malignant tumor of the oropharynx|malignant neoplasm of posterior wall of oropharynx|malignant neoplasm of lateral wall of oropharynx|malignant oropharynx neoplasm|cancer of oropharynx	http://purl.obolibrary.org/obo/MONDO_0004608	A primary or metastatic malignant neoplasm that affects the oropharynx.	MESH:D009959|NCIT:C7398|UMLS:C0153390|UMLS:C0153389|UMLS:C0153382|DOID:8557|UMLS:C2349952|UMLS:C3165521
UBERON:0001496	ascending aorta	biolink:AnatomicalEntity	mondo			pars ascendens aortae|pars ascendens aortae|aorta ascendens|ascending thoracic aorta	http://purl.obolibrary.org/obo/UBERON_0001496	The ascending aorta is the portion of the aorta in a two-pass circulatory system that lies between the heart and the arch of aorta[GO]. A portion of the aorta commencing at the upper part of the base of the left ventricle, on a level with the lower border of the third costal cartilage behind the left half of the sternum; it passes obliquely upward, forward, and to the right, in the direction of the heart's axis, as high as the upper border of the second right costal cartilage, describing a slight curve in its course, and being situated, about 6 cm behind the posterior surface of the sternum. The total length is about 5 cm in length [Wikipedia]	
MONDO:0004625	phlebitis	biolink:Disease	mondo	NCIT:C38003|SCTID:61599003|ICD10:I80|EFO:1001395|DOID:864|MESH:D010689		vein inflammation|inflammation of vein	http://purl.obolibrary.org/obo/MONDO_0004625	Inflammation of a vein.	NCIT:C38003|DOID:864|MESH:D010689|SNOMEDCT:61599003
CHEBI:24632	hydrocarbon	biolink:ChemicalSubstance	mondo			hidrocarburos|Kohlenwasserstoffe|hydrocarbons|hydrocarbure|Kohlenwasserstoff|hidrocarburo|hydrocarbon	http://purl.obolibrary.org/obo/CHEBI_24632	A compound consisting of carbon and hydrogen only.	
MONDO:0004624	uvula cancer	biolink:Disease	mondo	ICD10:C05.2|NCIT:C35177|UMLS:C0153377|ICD9:145.4|SCTID:363389001|DOID:8635		palatine uvula cancer|malignant uvular neoplasm|malignant neoplasm of palatine uvula|malignant uvula tumour|malignant palatine uvula neoplasm|malignant uvula tumor|malignant uvular tumour|malignant uvular tumor|malignant tumor of uvula|cancer of palatine uvula|malignant uvula neoplasm	http://purl.obolibrary.org/obo/MONDO_0004624	A malignant neoplasm involving the palatine uvula.	UMLS:C0153377|DOID:8635|SNOMEDCT:363389001|NCIT:C35177
MONDO:0004627	duodenitis	biolink:Disease	mondo	DOID:8643|MESH:D004382|SCTID:72007001|ICD10:K29.8|ICD9:535.6|NCIT:C94409|COHD:433516|UMLS:C0013298|ICD9:535.60		duodenum inflammation|hemorrhagic duodenitis|duodenitis|inflammation of duodenum	http://purl.obolibrary.org/obo/MONDO_0004627	Acute or chronic inflammation of the duodenum. Causes include bacterial and viral infections and gastroesophageal reflux disease. Symptoms include vomiting and abdominal pain.	MESH:D004382|DOID:8643|NCIT:C94409|UMLS:C0013298|SNOMEDCT:72007001
MONDO:0004626	Hodgkin's paragranuloma	biolink:Disease	mondo	DOID:8642|NCIT:C26956		Hodgkin paragranuloma	http://purl.obolibrary.org/obo/MONDO_0004626		DOID:8642|NCIT:C26956
MONDO:0004621	upper lip cancer	biolink:Disease	mondo	ICD9:140.0|ICD10:C00.0|ICD9:140.3|ICD10:C00.3|DOID:8630		cancer of upper lip|upper lip cancer|malignant neoplasm of upper lip|malignant upper lip neoplasm	http://purl.obolibrary.org/obo/MONDO_0004621	A malignant neoplasm involving the upper lip.	DOID:8630
MONDO:0004620	Hodgkin's lymphoma, lymphocytic depletion	biolink:Disease	mondo	ONCOTREE:LDCHL|COHD:4041798|DOID:8628|NCIT:C9125|SCTID:118610003|ICD9:201.7|ICD10:C81.3		adult HDLD|adult LDHD|Hodgkin's disease, lymphocytic depletion|lymphocyte-depleted classical Hodgkin lymphoma|Hodgkin's lymphocytic depletion of unspecified site|adult lymphocyte-depleted classical Hodgkin lymphoma|Hodgkin's disease, lymphocytic depletion NOS|adult lymphocyte depleted Hodgkin's lymphoma|adult lymphocyte depleted classical Hodgkin lymphoma|Adult lymphocyte-depleted Classic Hodgkin lymphoma|Hodgkin lymphoma, lymphocyte depletion|adult lymphocyte depleted Hodgkin lymphoma|adult lymphocyte depletion Hodgkin's disease|Hodgkin's disease, lymphocytic depletion NOS (morphologic abnormality)|Hodgkin's disease, lymphocytic depletion, unspecified site, extranodal and solid organ sites	http://purl.obolibrary.org/obo/MONDO_0004620	A diffuse subtype of classical Hodgkin lymphoma which is rich in Hodgkin and Reed-Sternberg cells and/or depleted in non-neoplastic lymphocytes. (WHO, 2008)	SNOMEDCT:118610003|DOID:8628|NCIT:C9125
MONDO:0004623	obsolete prostate carcinoma in situ	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004623		
MONDO:0004622	chronic intestinal vascular insufficiency	biolink:Disease	mondo	SCTID:111354009|ICD9:557.1|UMLS:C0311262|DOID:8633		CMI - chronic mesenteric ischaemia|chronic mesenteric ischemia	http://purl.obolibrary.org/obo/MONDO_0004622		DOID:8633|SNOMEDCT:111354009|UMLS:C0311262
UBERON:0001480	proximal carpal bone	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0001480	A carpal bone that proximally_connected_to a forelimb zeugopod skeleton.	
UBERON:0001482	muscle of shoulder	biolink:AnatomicalEntity	mondo			shoulder muscle organ|shoulder muscle|muscle organ of shoulder	http://purl.obolibrary.org/obo/UBERON_0001482	Any muscle organ that is part of a shoulder [Automatically generated definition].	
GO:0072509		biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0072509		
GO:0072507	divalent inorganic cation homeostasis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0072507	Any process involved in the maintenance of an internal steady state of divalent cations within an organism or cell.	
UBERON:0001488	ankle joint	biolink:AnatomicalEntity	mondo			talotibial joint|talocrural articulation|hock|gambrel|hock joint|talocrural joint|mortise joint	http://purl.obolibrary.org/obo/UBERON_0001488	A joint that connects the hindlimb autopod and zeugopod skeletons.	
UBERON:0001487	pes joint	biolink:AnatomicalEntity	mondo			joint of terminal segment of free lower limb|foot joint|articulationes pedis|pedal joint|joints of foot|hind limb autopod joint|joint of pes	http://purl.obolibrary.org/obo/UBERON_0001487	A skeletal joint that is part of a pes [Automatically generated definition].	
GO:0072503	cellular divalent inorganic cation homeostasis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0072503	Any process involved in the maintenance of an internal steady state of divalent cations at the level of a cell.	
UBERON:0001489	manus joint	biolink:AnatomicalEntity	mondo			joint of terminal segment of free upper limb|hand joint|articulationes manus|joint of manus|joint of hand|manual joint	http://purl.obolibrary.org/obo/UBERON_0001489	A skeletal joint that is part of a manus (hand) [Automatically generated definition].	
UBERON:0001484	articular capsule	biolink:AnatomicalEntity	mondo			capsula articularis|joint capsule|joint fibrous capsule|capsulae articulares|fibrous capsule of joint	http://purl.obolibrary.org/obo/UBERON_0001484	An articular capsule (or joint capsule) is an envelope surrounding a synovial joint. [WP,unvetted].	
MONDO:0004618	diplegia of upper limb	biolink:Disease	mondo	DOID:862|UMLS:C0154701|SCTID:54099005|ICD10:G83.0|ICD9:344.2		diplegia of upper limbs|diplegia, upper	http://purl.obolibrary.org/obo/MONDO_0004618		SNOMEDCT:54099005|UMLS:C0154701|DOID:862
MONDO:0004617	recurrent hypersomnia	biolink:Disease	mondo	ICD10:G47.13|SCTID:426451004|DOID:8619|ICD9:327.13|UMLS:C0751226		primary recurrent hypersomnia	http://purl.obolibrary.org/obo/MONDO_0004617	Disorders characterized by hypersomnolence during normal waking hours that may impair cognitive functioning. Subtypes include primary hypersomnia disorders (e.g., idiopathic hypersomnolence; narcolepsy; and kleine-levin syndrome) and secondary hypersomnia disorders where excessive somnolence can be attributed to a known cause (e.g., drug affect, mental disorders, and sleep apnea syndrome). (From J Neurol Sci 1998 Jan 8;153(2):192-202; Thorpy, Principles and Practice of Sleep Medicine, 2nd ed, p320)	DOID:8619|SNOMEDCT:426451004|UMLS:C0751226
UBERON:0001483	skin of shoulder	biolink:AnatomicalEntity	mondo			shoulder zone of skin|shoulder skin|zone of skin of shoulder	http://purl.obolibrary.org/obo/UBERON_0001483	A zone of skin that is part of a shoulder region.	
MONDO:0004619	measles	biolink:Disease	mondo	GARD:0003434|DOID:8622|SCTID:14189004|UMLS:C0025007|ICD9:055|ICD10:B05|MESH:D008457|ICD10:B05.9|NCIT:C96406|EFO:1002025	gard_rare	Measles morbillivirus infectious disease|Measles morbillivirus caused disease or disorder|rubeola|morbilli|Measles morbillivirus disease or disorder|rubeola infection	http://purl.obolibrary.org/obo/MONDO_0004619	A highly contagious viral infection caused by the measles virus. Symptoms appear 8-12 days after exposure and include a rash, cough, fever and muscle pains that can last 4-7 days. Measles vaccines are available to provide prophylaxis, usually combined with mumps and rubella vaccines (MMR).	SNOMEDCT:14189004|NCIT:C96406|DOID:8622|UMLS:C0025007|MESH:D008457
UBERON:0001485	knee joint	biolink:AnatomicalEntity	mondo			joint of knee|articulatio genus	http://purl.obolibrary.org/obo/UBERON_0001485	The knee joint joins the thigh with the leg and consists of two articulations: one between the femur and tibia, and one between the femur and patella. It is the largest and most complicated joint in the human body. The knee is a mobile trocho-ginglymus (i.e. a pivotal hinge joint), which permits flexion and extension as well as a slight medial and lateral rotation[WP,unvetted].	
MONDO:0002017	olivopontocerebellar atrophy	biolink:Disease	mondo	SCTID:67761004|MESH:D009849|GARD:0007250|NCIT:C84947|UMLS:C0028968|ICD10:G23.8|DOID:14784|ICD9:333.0		Dejerine-Thomas syndrome|OPCA|WADIA-swami syndrome|Thomas' syndrome	http://purl.obolibrary.org/obo/MONDO_0002017	A group of sporadic and inherited neurodegenerative disorders affecting the cerebellum, pons, and inferior olives.	UMLS:C0028968|MESH:D009849|DOID:14784|SNOMEDCT:67761004|NCIT:C84947
MONDO:0004679	leukoplakia of vagina	biolink:Disease	mondo	ICD9:623.1|ICD10:N89.4|DOID:8920|UMLS:C0156385|COHD:194703|SCTID:111420009|NCIT:C3663		vaginal leukoplakia|leukoplakia of the vagina	http://purl.obolibrary.org/obo/MONDO_0004679	Leukoplakia of the vagina.	UMLS:C0156385|SNOMEDCT:111420009|NCIT:C3663|DOID:8920
MONDO:0002018	obsolete Leber congenital amaurosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002018		
MONDO:0002019	obsolete hypohidrotic ectodermal dysplasia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002019		
SO:0000001	region	biolink:SequenceFeature	mondo			sequence	http://purl.obolibrary.org/obo/SO_0000001	A sequence_feature with an extent greater than zero. A nucleotide region is composed of bases and a polypeptide region is composed of amino acids.	
MONDO:0002013	lymphangioma	biolink:Disease	mondo	ICD9:228.1|MESH:D008202|ICD10:D18.1|ICDO:9170/0|COHD:433997|DOID:1475|SCTID:400178008|GARD:0009789|SCTID:254836000|NCIT:C8965|UMLS:CN201700|Orphanet:2415	ordo_group_of_disorders	LM|lymphangioma, benign|congenital lymphangioma|lymphangioma|benign lymphangioma (morphologic abnormality)|benign lymphangioma	http://purl.obolibrary.org/obo/MONDO_0002013	A benign lesion composed of dilated lymphatic channels. Painless swelling is the usual clinical manifestation.	UMLS:CN201700|MESH:D008202|NCIT:C8965|DOID:1475|SNOMEDCT:400178008|SNOMEDCT:254836000|ORPHA:2415
MONDO:0004676	obsolete progressive myoclonus epilepsy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004676		
MONDO:0002014	autosomal recessive Ehlers-Danlos syndrome, vascular type	biolink:Disease	mondo	UMLS:C0268340|DOID:14759|SCTID:70610001		autosomal recessive type IV Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, recessive type 4|Ehlers-Danlos syndrome, vascular type, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0002014	The rare autosomal recessive form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported.	DOID:14759|SNOMEDCT:70610001|UMLS:C0268340
MONDO:0004675	mitochondrial encephalomyopathy	biolink:Disease	mondo	ICD9:277.87|MESH:D017237|SCTID:447292006|UMLS:C0162666|DOID:890			http://purl.obolibrary.org/obo/MONDO_0004675	A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)	DOID:890|UMLS:C0162666|MESH:D017237|SNOMEDCT:447292006
MONDO:0004678	dermatophytosis	biolink:Disease	mondo	DOID:8913|ICD9:110|ICD9:110.9|UMLS:C0011636|NCIT:C26745|ICD9:110.8|ICD10:B35.9|COHD:135473|SCTID:47382004|ICD10:B35		dermatomycosis|skin diseases, fungal|skin disease, fungal|fungal skin diseases|ringworm|fungal skin disease	http://purl.obolibrary.org/obo/MONDO_0004678	A common fungal infection of the stratum corneum of the skin, hair, or nails by a dermatophyte. It is characterized by itching, inflammation, redness of the skin, small papular vesicles, central clearing, fissures, scaling, and/or hair loss in the affected area.	SNOMEDCT:47382004|UMLS:C0011636|NCIT:C26745|DOID:8913
MONDO:0002015	obsolete brittle cornea syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002015		
MONDO:0004677	tinea nigra	biolink:Disease	mondo	COHD:134865|DOID:8912|UMLS:C0152067|ICD10:B36.1|ICD9:111.1|SCTID:183342005		Tinea palmaris nigra|infection by Cladosporium werneckii|microsporosis nigra|keratomycosis nigricans	http://purl.obolibrary.org/obo/MONDO_0004677	A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions.	UMLS:C0152067|SNOMEDCT:183342005|DOID:8912
MONDO:0002016	benign familial neonatal epilepsy	biolink:Disease	mondo	GARD:0002159|DOID:14777|SCTID:279953009		familial neonatal seizures	http://purl.obolibrary.org/obo/MONDO_0002016	A condition marked by recurrent seizures that occur during the first 4-6 weeks of life despite an otherwise benign neonatal course. Autosomal dominant familial and sporadic forms have been identified. Seizures generally consist of brief episodes of tonic posturing and other movements, apnea, eye deviations, and blood pressure fluctuations. These tend to remit after the 6th week of life. The risk of developing epilepsy at an older age is moderately increased in the familial form of this disorder. (Neurologia 1996 Feb;11(2):51-5)	SNOMEDCT:279953009|DOID:14777
MONDO:0004672	fasciolopsiasis	biolink:Disease	mondo	NCIT:C128388|DOID:888|ICD9:121.4|SCTID:54266002|ICD10:B66.5|UMLS:C0015656		infectious disease by Fasciolopsis|infection by Fasciolopsis buski	http://purl.obolibrary.org/obo/MONDO_0004672	A small bowel infection that is caused by Fasciolopsis buski, which is endemic in the Far East and Southeast Asia, and which is transmitted via the consumption of raw or undercooked aquatic plants. The spectrum of manifestations range from asymptomatic to intestinal symptoms from local invasion or allergic response.	DOID:888|SNOMEDCT:54266002|UMLS:C0015656|NCIT:C128388
GO:1901402	negative regulation of tetrapyrrole metabolic process	biolink:OntologyClass	mondo			inhibition of tetrapyrrole metabolism|down regulation of tetrapyrrole metabolic process|inhibition of tetrapyrrole metabolic process|negative regulation of tetrapyrrole metabolism|down-regulation of tetrapyrrole metabolic process|down-regulation of tetrapyrrole metabolism|down regulation of tetrapyrrole metabolism|downregulation of tetrapyrrole metabolism|downregulation of tetrapyrrole metabolic process	http://purl.obolibrary.org/obo/GO_1901402	Any process that stops, prevents or reduces the frequency, rate or extent of tetrapyrrole metabolic process.	
MONDO:0002010	FG syndrome	biolink:Disease	mondo	UMLS:C0220769|OMIMPS:305400|DOID:14711|Orphanet:323|ICD9:759.89|SCTID:49984004|GARD:0002317	gard_rare	FGS|Opitz-Kaveggia syndrome|Keller syndrome|FGS1|intellectual disability, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum	http://purl.obolibrary.org/obo/MONDO_0002010	FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. 'FG' represents the surname initials of the firstindividuals diagnosed with the disorder.People withFG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes,alarge head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. Medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and BRWD3 (FGS7).FGS is inherited in an X-linked recessive pattern.Individualized early intervention and educational services are important so that each child can reach their fullest potential.	ORPHA:323|DOID:14711|SNOMEDCT:49984004|UMLS:C0220769
GO:1901403	positive regulation of tetrapyrrole metabolic process	biolink:OntologyClass	mondo			positive regulation of tetrapyrrole metabolism|upregulation of tetrapyrrole metabolism|upregulation of tetrapyrrole metabolic process|activation of tetrapyrrole metabolism|up regulation of tetrapyrrole metabolic process|up-regulation of tetrapyrrole metabolism|up-regulation of tetrapyrrole metabolic process|activation of tetrapyrrole metabolic process|up regulation of tetrapyrrole metabolism	http://purl.obolibrary.org/obo/GO_1901403	Any process that activates or increases the frequency, rate or extent of tetrapyrrole metabolic process.	
MONDO:0004671	penis carcinoma in situ	biolink:Disease	mondo	COHD:193162|UMLS:C0154089|ICDO:8080/2|NCIT:C27790|DOID:8872|ICD10:D00-D09|ICD10:D07.4|ICD9:233.5|SCTID:398831006		Bowen disease of the penis|stage 0 penile carcinoma in situ|carcinoma in situ of the penis|penile carcinoma in situ|carcinoma in situ of penis|stage 0 penis carcinoma|Bowen's disease of penis|grade III squamous intraepithelial lesion of penis|penis in situ carcinoma|Queyrat's erythroplasia|penile carcinoma in situ aJCC v7|erythroplasia of Queyrat|penile intraepithelial neoplasia grade III|Bowen's disease of the penis|grade III penile intraepithelial neoplasia|Queyrat erythroplasia|grade III squamous intraepithelial lesion of the penis	http://purl.obolibrary.org/obo/MONDO_0004671	A in situ carcinoma that involves the penis.	SNOMEDCT:398831006|UMLS:C0154089|NCIT:C27790|DOID:8872
MONDO:0004674	chorioretinitis (disease)	biolink:Disease	mondo	NCIT:C110923|GARD:0006060|ICD10:H30.9|HP:0012424|DOID:8886|MESH:D002825|ICD9:363.20|COHD:434033|ICD10:H30|SCTID:46627006|UMLS:C0008513		retinochoroiditis|chorioretinitis	http://purl.obolibrary.org/obo/MONDO_0004674	Inflammation of the distal posterior uveal tract (choroid) and its structural and vascular attachments to the retina. It is usually caused by infection and though rare, it is clinically significant due to its most serious sequela: loss of vision.	UMLS:C0008513|SNOMEDCT:46627006|DOID:8886|NCIT:C110923|MESH:D002825
MONDO:0002011	obsolete hereditary angioedema	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002011		
MONDO:0002012	methylmalonic acidemia	biolink:Disease	mondo	DOID:14749|UMLS:C0268583|SCTID:42393006|ICD10:E71.120|NCIT:C98986|GARD:0007033|ICD9:270.7|UMLS:C1855119		METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl A|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type|methylmalonic aciduria mut type|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type|METHYLMALONICACIDURIA due to methylmalonic CoA mutase deficiency|methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency|methylmalonic aciduria type cblB|methylmalonic aciduria|methylmalonic aciduria type cblA|methylmalonic acidemia, cblA type|methylmalonic acidemia, cblB type|methylmalonic aciduria cblB type|methylmalonic aciduria, mut type|METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl B	http://purl.obolibrary.org/obo/MONDO_0002012	A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease.	UMLS:C1855119|DOID:14749|NCIT:C98986|UMLS:C0268583|SNOMEDCT:42393006
MONDO:0004673	lower lip cancer	biolink:Disease	mondo	DOID:8883|ICD10:C00.1|ICD9:140.1|SCTID:363373004|UMLS:C0432520		lower lip cancer|malignant lower lip neoplasm|malignant neoplasm of lower lip|cancer of lower lip	http://purl.obolibrary.org/obo/MONDO_0004673	A malignant neoplasm involving the lower lip.	SNOMEDCT:363373004|UMLS:C0432520|DOID:8883
GO:1901401	regulation of tetrapyrrole metabolic process	biolink:OntologyClass	mondo			regulation of tetrapyrrole metabolism	http://purl.obolibrary.org/obo/GO_1901401	Any process that modulates the frequency, rate or extent of tetrapyrrole metabolic process.	
MONDO:0004670	lupus erythematosus	biolink:Disease	mondo	SCTID:200936003|ICD9:695.4|COHD:255891|UMLS:C0409974|ICD10:L93.0|ICD10:L93|DOID:8857|NCIT:C27153		lupus|lupus erythematosus	http://purl.obolibrary.org/obo/MONDO_0004670	An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus.	NCIT:C27153|SNOMEDCT:200936003|UMLS:C0409974|DOID:8857
MONDO:0016669	sickle cell-hemoglobin c disease syndrome	biolink:Disease	mondo	Orphanet:251365|UMLS:C0019034|MedDRA:10057072|GARD:0006584|ICD10:D57.2	ordo_disease	HbSC disease|sickle cell - hemoglobin C disease	http://purl.obolibrary.org/obo/MONDO_0016669		UMLS:C0019034|MEDDRA:10057072|ORPHA:251365
MONDO:0014006	Schuurs-Hoeijmakers syndrome	biolink:Disease	mondo	DOID:0070047|Orphanet:329224|NCIT:C150555|OMIM:615009|UMLS:C3554343|GARD:0013043	ordo_malformation_syndrome	autosomal dominant intellectual disability-17|autosomal dominant intellectual disability 17|Schuurs-Hoeijmakers syndrome|PACS1-related syndrome|autosomal dominant mental retardation 17|intellectual disability, autosomal dominant type 17|mental retardation, autosomal dominant 17|MRD17|Schuurs-Hoeijmakers syndrome; SHMS|mental retardation, autosomal dominant 17; MRD17|SHMS|mental retardation, autosomal dominant type 17|intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome|intellectual disability, autosomal dominant 17|intellectual disability, autosomal dominant 17; MRD17	http://purl.obolibrary.org/obo/MONDO_0014006	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed.	ORPHA:329224|NCIT:C150555|UMLS:C3554343|http://identifiers.org/omim/615009|DOID:0070047
MONDO:0014005	immunoglobulin-mediated membranoproliferative glomerulonephritis	biolink:Disease	mondo	NCIT:C123055|Orphanet:329903|ICD10:N00.5|OMIM:615008	predisposition|ordo_clinical_subtype	Mesangiocapillary glomerulonephritis type 1|NPHS7|Ig-mediated membranoproliferative glomerulonephritis|immune Complex mediated membranoproliferative glomerulonephritis|membranoproliferative glomerulonephritis type I|Immunoglobulin-mediated MPGN|nephrotic syndrome, type 7, with membranoproliferative glomerulonephritis|Ig-mediated MPGN|nephrotic syndrome, type 7; NPHS7|nephrotic syndrome, type 7|hemolytic uremic syndrome, atypical, susceptibility to, 7|Ahus, susceptibility to, 7	http://purl.obolibrary.org/obo/MONDO_0014005	Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation.	ORPHA:329903|http://identifiers.org/omim/615008|UMLS:C1720821|NCIT:C123055|UMLS:C0268742
MONDO:0014004	basal ganglia calcification, idiopathic, 4	biolink:Disease	mondo	OMIM:615007|UMLS:C3554321		basal ganglia calcification, idiopathic, type 4|basal ganglia calcification, idiopathic, 4; IBGC4|basal ganglia calcification, idiopathic, 4|IBGC4	http://purl.obolibrary.org/obo/MONDO_0014004		UMLS:C3554321|http://identifiers.org/omim/615007
MONDO:0014003	developmental and epileptic encephalopathy, 15	biolink:Disease	mondo	UMLS:C3554316|OMIM:615006|DOID:0080414		epileptic encephalopathy, early infantile, 15; EIEE15|epileptic encephalopathy, early infantile, 15|epileptic encephalopathy, early infantile, type 15|DEE15|EIEE15	http://purl.obolibrary.org/obo/MONDO_0014003		DOID:0080414|UMLS:C3554316|http://identifiers.org/omim/615006
MONDO:0016665	unclassified vasculitis	biolink:Disease	mondo	ICD10:M31.8|Orphanet:251328	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016665		ORPHA:251328
MONDO:0016666	unexplained long-lasting fever/inflammatory syndrome	biolink:Disease	mondo	Orphanet:251332|UMLS:CN201905	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016666		UMLS:CN201905|ORPHA:251332
MONDO:0014009	autosomal recessive congenital ichthyosis 7	biolink:Disease	mondo	ICD10:Q80.2|DOID:0060716|OMIM:615022|UMLS:C3554348		ichthyosis, congenital, autosomal recessive 7; ARCI7|ichthyosis, congenital, autosomal recessive 7|autosomal recessive congenital ichthyosis type 7|ARCI7	http://purl.obolibrary.org/obo/MONDO_0014009	An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has material basis in variation in the chromosome region 12p11.2-q13.1.	UMLS:C3554348|DOID:0060716|http://identifiers.org/omim/615022
GO:0060556	regulation of vitamin D biosynthetic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060556	Any process that modulates the rate frequency or extent of a vitamin D biosynthetic process. Vitamin D biosynthesis is the chemical reactions and pathways resulting in the formation of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3).	
GO:0060557	positive regulation of vitamin D biosynthetic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060557	Any process that increases the rate, frequency or extent of a vitamin D biosynthetic process. Vitamin D biosynthesis is the chemical reactions and pathways resulting in the formation of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3).	
MONDO:0016667	sickle cell disease associated with an other hemoglobin anomaly	biolink:Disease	mondo	UMLS:CN201907|GARD:0012459|ICD10:D57.2|Orphanet:251355	ordo_group_of_disorders|gard_rare	Double heterozygotes sickling disorder	http://purl.obolibrary.org/obo/MONDO_0016667		UMLS:CN201907|ORPHA:251355
MONDO:0014008	phosphohydroxylysinuria	biolink:Disease	mondo	UMLS:C3554344|OMIM:615011		PHLU|PHOSPHOHYDROXYLYSINURIA; PHLU|Phosphohydroxylysinuria	http://purl.obolibrary.org/obo/MONDO_0014008		UMLS:C3554344|http://identifiers.org/omim/615011
MONDO:0016668	sickle cell-beta-thalassemia disease syndrome	biolink:Disease	mondo	GARD:0010333|NCIT:C95539|SCTID:127041004|MedDRA:10040655|Orphanet:251359|MedDRA:10055579|ICD10:D57.2	ordo_disease|gard_rare	sickle cell - beta-thalassemia disease|sickle cell-Beta thalassemia|Hb S beta-thalassemia|HbS-beta-thalassemia syndrome|Hb S-Beta thalassemia|Hemoglobin sickle-beta thalassemia|sickle cell-beta-thalassemia disease syndrome|S-Beta thalassemia|HbS - beta-thalassemia|sickle beta thalassemia|sickle cell-Beta-thalassemia	http://purl.obolibrary.org/obo/MONDO_0016668	Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body.It is a type of sickle cell disease. Affected people havea differentchange (mutation) in each copy of their HBB gene: onethat causes red blood cells to form a 'sickle' or crescent shape and a second that is associated with beta thalassemia, a blood disorder that reduces the production of hemoglobin. Depending on the beta thalassemia mutation, people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). The presence of sickle-shaped red blood cells, which often breakdown prematurely and can get stuck in blood vessels, combined with the reduction or absence of mature redblood cells leadsto the many signs and symptoms of sickle beta thalassemia. Features, which may include anemia (low levels of red blood cells), repeated infections, and frequent episodes of pain, generally develop in early childhood and vary in severity depending on the amount of normal hemoglobin made. Sickle beta thalassemia is inherited in an autosomal recessive manner. Treatment is supportive and depends on the signs and symptoms present in each person.	MEDDRA:10040655|UMLS:C0857812|UMLS:C0221019|SNOMEDCT:127041004|ORPHA:251359|MEDDRA:10055579|NCIT:C95539
MONDO:0014007	Aicardi-Goutieres syndrome 6	biolink:Disease	mondo	UMLS:C3539013|OMIM:615010		ADAR Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome caused by mutation in ADAR|Adar Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome caused by mutation in Adar|AGS6|Aicardi-Goutieres syndrome type 6|Aicardi-Goutieres syndrome 6|Aicardi-Goutieres syndrome 6; AGS6	http://purl.obolibrary.org/obo/MONDO_0014007	Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the ADAR gene.	UMLS:C3539013|http://identifiers.org/omim/615010
MONDO:0016661	infantile onset panniculitis with uveitis and systemic granulomatosis	biolink:Disease	mondo	Orphanet:251304|ICD10:M08.8	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016661		ORPHA:251304
MONDO:0016662	idiopathic recurrent pericarditis	biolink:Disease	mondo	ICD10:I09.2|Orphanet:251307|SCTID:766704005	ordo_disease	idiopathic relapsing pericarditis	http://purl.obolibrary.org/obo/MONDO_0016662	Idiopathic recurrent pericarditis is a rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare, life-threatening complication.	ORPHA:251307|SNOMEDCT:766704005
MONDO:0016663	overlapping connective tissue disease	biolink:Disease	mondo	UMLS:CN201903|MedDRA:10027754|Orphanet:251312|ICD10:M35.1	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016663		ORPHA:251312|MEDDRA:10027754|UMLS:CN201903
MONDO:0016664	drug-induced vasculitis	biolink:Disease	mondo	ICD10:M31.8|NCIT:C112204|UMLS:C3812646|Orphanet:251325	ordo_disease	drug induced vasculitis|drug induced cutaneous vasculitis	http://purl.obolibrary.org/obo/MONDO_0016664	A skin hypersensitivity reaction due to exposure to a pharmacologic substance that is characterized by raised purpuric lesions, red macules, hemorrhagic blisters and ulcerations.	ORPHA:251325|NCIT:C112204|UMLS:C3812646
MONDO:0014002	autosomal dominant nocturnal frontal lobe epilepsy 5	biolink:Disease	mondo	DOID:0060686|UMLS:C3554306|OMIM:615005		epilepsy, nocturnal frontal lobe, type 5|autosomal dominant nocturnal frontal lobe epilepsy type 5|ENFL5|epilepsy, nocturnal frontal lobe, 5|nocturnal frontal lobe epilepsy 5|autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in KCNT1|epilepsy, nocturnal frontal lobe, 5; ENFL5|KCNT1 autosomal dominant nocturnal frontal lobe epilepsy	http://purl.obolibrary.org/obo/MONDO_0014002	Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the KCNT1 gene.	UMLS:C3554306|http://identifiers.org/omim/615005|DOID:0060686
MONDO:0014001	Usher syndrome type 1K	biolink:Disease	mondo	OMIM:614990|UMLS:C3539124|ICD10:H35.5|DOID:0110837		Usher syndrome type IK|USH1K|USHER syndrome, type IK; USH1K|USHER syndrome, type IK	http://purl.obolibrary.org/obo/MONDO_0014001	An Usher syndrome type 1 that has material basis in variation in the chromosome region 10p11.21-q21.1.	DOID:0110837|http://identifiers.org/omim/614990|UMLS:C3539124
MONDO:0014000	congenital heart defects, multiple types, 2	biolink:Disease	mondo	OMIM:614980|UMLS:C3554279		congenital heart defects, multiple types, 2; CHTD2|CHTD2|TAB2 congenital heart malformation|congenital heart malformation caused by mutation in TAB2|congenital heart defects, multiple types, 2	http://purl.obolibrary.org/obo/MONDO_0014000	Any congenital heart malformation in which the cause of the disease is a mutation in the TAB2 gene.	UMLS:C3554279|http://identifiers.org/omim/614980
MONDO:0016660	autosomal recessive primary microcephaly	biolink:Disease	mondo	DOID:0070296|SCTID:715981004|OMIMPS:251200|UMLS:C3711387|MESH:C579935|ICD10:Q02|GARD:0012117|DC:0000277|Orphanet:2512	gard_rare|ordo_etiological_subtype|clingen	true microcephaly|microcephaly vera|microcephaly, primary, autosomal recessive|microcephalia vera|microcephaly, primary autosomal recessive|MCPH	http://purl.obolibrary.org/obo/MONDO_0016660	Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.	SNOMEDCT:715981004|DOID:0070296|ORPHA:2512|MESH:C579935|UMLS:C3711387
HGNC:8059	NUMA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8059		
MONDO:0002028	personality disorder (disease)	biolink:Disease	mondo	DOID:1510|SCTID:33449004|ICD9:301.89|ICD9:301.8|NCIT:C34922|COHD:441838|HP:0012075|ICD9:301.9		character disorder|personality disorder	http://purl.obolibrary.org/obo/MONDO_0002028	A diverse category of psychiatric disorders characterized by behavior that deviates markedly from the expectations of the individual's culture; this pattern of deviation is pervasive and inflexible and is stable over time. The behavioral pattern negatively interferes with relationships and work.	NCIT:C34922|DOID:1510|SNOMEDCT:33449004
MONDO:0002029	chronic gonorrhea of cervix	biolink:Disease	mondo	ICD9:098.35|SCTID:76802005|UMLS:C0153206|DOID:1512		gonococcal cervicitis, chronic|chronic gonococcal cervicitis	http://purl.obolibrary.org/obo/MONDO_0002029	Chronic form of gonococcal cervicitis.	SNOMEDCT:76802005|DOID:1512|UMLS:C0153206
MONDO:0004687	severe nonproliferative diabetic retinopathy	biolink:Disease	mondo	ICD9:362.06|UMLS:C0730278|SCTID:312905005|DOID:8946		high risk non proliferative diabetic retinopathy|severe nonproliferative diabetic retinopathy|severe npdr|severe NPDR|severe nonproliferative retinopathy	http://purl.obolibrary.org/obo/MONDO_0004687		UMLS:C0730278|SNOMEDCT:312905005|DOID:8946
MONDO:0002024	obsolete cholera	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002024		
MONDO:0004686	lattice corneal dystrophy (disease)	biolink:Disease	mondo	DOID:8943|HP:0001149|ICD9:357.4|SCTID:1192004|ICD9:277.39|UMLS:C0155127		lattice corneal dystrophy|familial amyloid neuropathy, Finnish type	http://purl.obolibrary.org/obo/MONDO_0004686		UMLS:C0155127|DOID:8943|SNOMEDCT:1192004
MONDO:0002025	psychiatric disorder	biolink:Disease	mondo	ICD10:F99|MESH:D001523|NCIT:C2893|MFOMD:0000004|ICD10:F99-F99|DOID:150		Psychiatric disease|mental disorder|Psychiatric disorder|mental dysfunction|disease of mental health|mental illness	http://purl.obolibrary.org/obo/MONDO_0002025	A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia.	DOID:150|MESH:D001523|NCIT:C2893
MONDO:0002026	candidiasis	biolink:Disease	mondo	MESH:D002177|ICD10:B37|UMLS:C0006840|DOID:1508|ICD9:112|SCTID:78048006|ICD9:112.9|NCIT:C26711|ICD9:112.89|COHD:433968|ICD10:B37.9		disseminated candidiasis|infections, Candida <Debaryomycetaceae>|Candida infection|Candida <Debaryomycetaceae> infection|systemic candidiasis|Candidosis|thrush	http://purl.obolibrary.org/obo/MONDO_0002026	Infection with the organism Candida.	UMLS:C0006840|DOID:1508|NCIT:C26711|MESH:D002177|SNOMEDCT:78048006
MONDO:0004689	inborn metal metabolism disorder	biolink:Disease	mondo	MESH:D008664|DOID:896|UMLS:C0025534		metal metabolism disorder|metal metabolism, inborn error	http://purl.obolibrary.org/obo/MONDO_0004689	An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.	UMLS:C0025534|DOID:896|MESH:D008664
HGNC:8063	NUP155	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8063		
MONDO:0002027	avoidant personality disorder	biolink:Disease	mondo	ICD10:F60.6|NCIT:C92636|ICD9:301.82|SCTID:231528008|COHD:437524|DOID:1509		anxious personality disorder	http://purl.obolibrary.org/obo/MONDO_0002027	A disorder characterized by an enduring pattern of avoidance of social situations and interpersonal contact due to overwhelming feelings of social inadequacy and a hypersensitivity to negative evaluation or rejection.	NCIT:C92636|SNOMEDCT:231528008|DOID:1509
MONDO:0004688	obsolete sideroblastic anemia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004688		
MONDO:0004683	obsolete Evans' syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004683		
MONDO:0002020	obsolete Blount disease	biolink:Disease	mondo			obsolete Blount's disease	http://purl.obolibrary.org/obo/MONDO_0002020		
MONDO:0002021	gingival disease	biolink:Disease	mondo	DOID:1483|SCTID:18718003|MESH:D005882|UMLS:C0017563		disorder of gingiva|disorder of gingiva|gingiva disease|disease or disorder of gingiva|disease of gingiva|gingiva disease or disorder	http://purl.obolibrary.org/obo/MONDO_0002021	A disease involving the gingiva.	DOID:1483|UMLS:C0017563|MESH:D005882|SNOMEDCT:18718003
MONDO:0004682	retromolar area cancer	biolink:Disease	mondo	DOID:8930|ICD10:C06.2|ICD9:145.6|SCTID:363391009		malignant tumor of retromolar area|neoplasm of retromolar area, malignant|malignant neoplasm of retromolar area	http://purl.obolibrary.org/obo/MONDO_0004682	A malignant form of neoplasm of retromolar area.	DOID:8930|SNOMEDCT:363391009
MONDO:0002022	disease of orbital region	biolink:Disease	mondo	ICD10:H00.H59|ICD9:362.10|DOID:1492|ICD10:H35.00|SCTID:371409005		disorder of eye region|orbital region disease|ophthalmological disorder|orbital region disease or disorder|disorder of orbital region|eye and adnexa disease|disease of orbital region|disorder of orbital region|disease or disorder of orbital region	http://purl.obolibrary.org/obo/MONDO_0002022	A disease that involves the orbital region.	DOID:1492|SNOMEDCT:371409005
MONDO:0004685	Waldeyer's ring cancer	biolink:Disease	mondo	ICD9:149.1|ICD10:C14.2|UMLS:C0153406|SCTID:187716008|DOID:8937		tonsillar ring cancer|Waldeyer ring cancer|malignant neoplasm of Waldeyer's ring|malignant tonsillar ring neoplasm|cancer of tonsillar ring|malignant tumor of Waldeyer's ring|malignant neoplasm of tonsillar ring	http://purl.obolibrary.org/obo/MONDO_0004685	A malignant neoplasm involving the tonsillar ring.	SNOMEDCT:187716008|UMLS:C0153406|DOID:8937
MONDO:0002023	obsolete cystic echinococcosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002023		
MONDO:0004684	plantar fibromatosis	biolink:Disease	mondo	NCIT:C4680|EFO:1000481|ICD10:M72.2|SCTID:13370002|ICD9:728.71|DOID:8936		Dupuytren's contracture of foot|plantar part of pes superficial Fibromatosis|plantar part of pes superficial fibromatosis|Ledderhose's disease|plantar fibromatosis|plantar fascial fibromatosis|superficial Fibromatosis of plantar part of pes|superficial fibromatosis of plantar part of pes	http://purl.obolibrary.org/obo/MONDO_0004684	A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern.	NCIT:C4680|DOID:8936|SNOMEDCT:13370002
NCBITaxon:1759442	Trichosporonaceae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1759442		
MONDO:0004681	learning disability	biolink:Disease	mondo	ICD9:315.2|UMLS:CN229495|SCTID:1855002|DOID:8927|ICD10:F81.9|MESH:D007859|NCIT:C89334		learning disorder|Academic skill disorder	http://purl.obolibrary.org/obo/MONDO_0004681	A group of disorders that affect a person's ability to learn or process specific types of information which is in contrast to his/her apparent level of intellect.	MESH:D007859|UMLS:CN229495|DOID:8927|NCIT:C89334|SNOMEDCT:1855002
MONDO:0004680	primary thrombocytopenia	biolink:Disease	mondo	SCTID:267534000|COHD:441264|ICD9:287.3|ICD9:287.39|ICD10:D69.49|ICD10:D69.4|ICD9:287.30|DOID:8925|UMLS:C0701157			http://purl.obolibrary.org/obo/MONDO_0004680		SNOMEDCT:267534000|UMLS:C0701157|DOID:8925
MONDO:0016658	8p23.1 microdeletion syndrome	biolink:Disease	mondo	SCTID:716381003|ICD10:Q93.5|Orphanet:251071|GARD:0003769|UMLS:CN201888|MESH:C537827	ordo_malformation_syndrome	Del(8)(p23.1)|deletion 8p23.1|chromosome 8p23.1 deletion|8p23.1 deletion|monosomy 8p23.1	http://purl.obolibrary.org/obo/MONDO_0016658	8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.	SNOMEDCT:716381003|UMLS:CN201888|MESH:C537827|ORPHA:251071
MONDO:0016659	8p23.1 duplication syndrome	biolink:Disease	mondo	GARD:0010304|ICD10:Q92.3|Orphanet:251076|SCTID:765140006|UMLS:CN201889	ordo_malformation_syndrome|gard_rare	dup(8)(p23.1p23.1)|trisomy 8p23.1	http://purl.obolibrary.org/obo/MONDO_0016659	8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly).	UMLS:CN201889|ORPHA:251076|SNOMEDCT:765140006
MONDO:0016654	ring chromosome 5	biolink:Disease	mondo	GARD:0010841|Orphanet:251043|SCTID:765487008|UMLS:C4050064|NCIT:C121984|ICD10:Q93.2	gard_rare|ordo_malformation_syndrome	rose cluster 5|R5|Ring chromosome 5 syndrome|Ring 5|Ring chromosome type 5|chromosome 5 ring	http://purl.obolibrary.org/obo/MONDO_0016654	Gene expression cluster 5 as determined by Recognition of Outliers by Sampling Ends (ROSE) in high-risk B-precursor acute lymphoblastic leukemia.	NCIT:C121984|ORPHA:251043|UMLS:C4050064|SNOMEDCT:765487008
MONDO:0016655	6p22 microdeletion syndrome	biolink:Disease	mondo	ICD10:Q93.5|Orphanet:251046|UMLS:CN201884|SCTID:719662000|UMLS:C4304528	ordo_malformation_syndrome	Del(6)(p22)|monosomy 6p22	http://purl.obolibrary.org/obo/MONDO_0016655	6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations.	UMLS:CN201884|UMLS:C4304528|ORPHA:251046|SNOMEDCT:719662000
MONDO:0016656	7q31 microdeletion syndrome	biolink:Disease	mondo	Orphanet:251061|ICD10:Q93.5|UMLS:CN201886	ordo_malformation_syndrome	monosomy 7q31|Del(7)(q31)	http://purl.obolibrary.org/obo/MONDO_0016656		UMLS:CN201886|ORPHA:251061
GO:0072527	pyrimidine-containing compound metabolic process	biolink:OntologyClass	mondo			pyrimidine-containing compound metabolism|pyrimidine and derivative metabolic process	http://purl.obolibrary.org/obo/GO_0072527	The chemical reactions and pathways involving a pyrimidine-containing compound, i.e. any compound that contains pyrimidine or a formal derivative thereof.	
MONDO:0016657	8p11.2 deletion syndrome	biolink:Disease	mondo	Orphanet:251066|SCTID:719646006|UMLS:C4304505|ICD10:Q93.5|UMLS:CN201887	ordo_malformation_syndrome	monosomy 8p11.2|Del(8)(p11.2)	http://purl.obolibrary.org/obo/MONDO_0016657	8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.	UMLS:CN201887|UMLS:C4304505|ORPHA:251066|SNOMEDCT:719646006
MONDO:0016650	paternal uniparental disomy of chromosome 1	biolink:Disease	mondo	SCTID:766719006|ICD10:Q99.8|Orphanet:251004	ordo_malformation_syndrome	paternal uniparental disomy of chromosome type 1|UPD(1)pat	http://purl.obolibrary.org/obo/MONDO_0016650	Paternal uniparental disomy of chromosome 1 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.	ORPHA:251004|SNOMEDCT:766719006
GO:0060548	negative regulation of cell death	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060548	Any process that decreases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death.	
GO:0072525	pyridine-containing compound biosynthetic process	biolink:OntologyClass	mondo			pyridine-containing compound synthesis|pyridine-containing compound biosynthesis|pyridine-containing compound formation|pyridine and derivative biosynthetic process|pyridine-containing compound anabolism	http://purl.obolibrary.org/obo/GO_0072525	The chemical reactions and pathways resulting in the formation of a pyridine-containing compound, i.e. any compound that contains pyridine or a formal derivative thereof.	
HGNC:8064	NUP214	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8064		
MONDO:0016651	maternal uniparental disomy of chromosome 1	biolink:Disease	mondo	Orphanet:251009|ICD10:Q99.8	ordo_malformation_syndrome	UPD(1)mat|maternal uniparental disomy of chromosome type 1	http://purl.obolibrary.org/obo/MONDO_0016651	Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.	ORPHA:251009
MONDO:0016652	2q31.1 microdeletion syndrome	biolink:Disease	mondo	UMLS:C4274647|SCTID:716387004|UMLS:CN201880|Orphanet:251014|ICD10:Q93.5	ordo_malformation_syndrome	monosomy 2q31.1|Del(2)(q31.1)	http://purl.obolibrary.org/obo/MONDO_0016652	2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.	UMLS:CN201880|SNOMEDCT:716387004|ORPHA:251014|UMLS:C4274647
GO:0072524	pyridine-containing compound metabolic process	biolink:OntologyClass	mondo			pyridine-containing compound metabolism|pyridine and derivative metabolic process	http://purl.obolibrary.org/obo/GO_0072524	The chemical reactions and pathways involving a pyridine-containing compound, i.e. any compound that contains pyridine or a formal derivative thereof.	
HGNC:8067	NUP88	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8067		
MONDO:0016653	2q33.1 microdeletion syndrome	biolink:Disease	mondo	UMLS:CN201882|ICD10:Q93.5|SCTID:763062006|Orphanet:251028	ordo_malformation_syndrome	Del(2)(q33.1)|monosomy 2q33.1	http://purl.obolibrary.org/obo/MONDO_0016653	2q33.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features inlcude high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated.	UMLS:CN201882|SNOMEDCT:763062006|ORPHA:251028
HGNC:8066	NUP62	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8066		
GO:0072522	purine-containing compound biosynthetic process	biolink:OntologyClass	mondo			purine and derivative biosynthetic process|purine-containing compound anabolism|purine-containing compound biosynthesis|purine-containing compound synthesis|purine-containing compound formation	http://purl.obolibrary.org/obo/GO_0072522	The chemical reactions and pathways resulting in the formation of a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof.	
GO:0072521	purine-containing compound metabolic process	biolink:OntologyClass	mondo			purine-containing compound metabolism|purine and derivative metabolic process	http://purl.obolibrary.org/obo/GO_0072521	The chemical reactions and pathways involving a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof.	
MONDO:0004658	breast carcinoma in situ	biolink:Disease	mondo	SCTID:189336000|ICD9:233.0|DOID:8791|UMLS:C0154084|ICD10:D05|NCIT:C3641|COHD:81250|ICD10:D05.9		carcinoma in situ of breast|non-invasive carcinoma of breast|breast in situ carcinoma|non-invasive carcinoma of the breast|stage 0 breast cancer aJCC v7|stage 0 breast cancer aJCC v6|non-invasive breast carcinoma|carcinoma in situ of the breast|non-infiltrating carcinoma of breast|breast cancer in situ|in situ breast cancer|stage 0 carcinoma of breast|stage 0 breast cancer aJCC v6 and v7|stage 0 carcinoma of the breast|stage 0 breast cancer|breast cancer stage 0|non-infiltrating carcinoma of the breast|stage 0 breast carcinoma in situ|stage 0 breast carcinoma|non-infiltrating breast carcinoma|breast carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0004658	A in situ carcinoma that involves the breast.	DOID:8791|NCIT:C3641|UMLS:C0154084|SNOMEDCT:189336000
MONDO:0004657	disseminated chorioretinitis	biolink:Disease	mondo	SCTID:78769001|UMLS:C0154879|ICD9:363.10|DOID:8787|COHD:433762|ICD10:H30.10|ICD9:363.1|ICD10:H30.1			http://purl.obolibrary.org/obo/MONDO_0004657		DOID:8787|SNOMEDCT:78769001|UMLS:C0154879
MONDO:0004659	eye carcinoma in situ	biolink:Disease	mondo	DOID:8792|ICD10:D09.2|SCTID:92590009|ICD9:234.0|COHD:373732|UMLS:C0154094		carcinoma in situ of eye|eye in situ carcinoma|stage 0 eyeball of camera-type eye carcinoma|carcinoma in situ of eyeball of camera-type eye|eyeball of camera-type eye carcinoma in situ|stage 0 eye carcinoma	http://purl.obolibrary.org/obo/MONDO_0004659	A carcinoma in situ involving a eye.	DOID:8792|UMLS:C0154094|SNOMEDCT:92590009
MONDO:0004654	obsolete pyomyositis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004654		
MONDO:0004653	atypical chronic myeloid leukemia, BCR-ABL1 negative	biolink:Disease	mondo	DOID:8747|SCTID:277589003|NCIT:C3519|COHD:135499|ICDO:9876/3		subacute myeloid leukemia|atypical chronic myeloid leukemia|subacute myelogenous leukemia|aCML|atypical CML|atypical chronic myeloid leukemia, BCR-ABL1 Negative|subacute granulocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0004653	A myelodysplastic/myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. (WHO, 2001)	SNOMEDCT:277589003|DOID:8747|NCIT:C3519
MONDO:0004656	rubella	biolink:Disease	mondo	EFO:1002026|SCTID:36653000|ICD10:B06|GARD:0004742|NCIT:C85051|ICD9:056|UMLS:C0035920|MESH:D012409|ICD10:B06.9|DOID:8781	gard_rare	three day measles|Rubella virus disease or disorder|Rubella virus infectious disease|Rubella virus caused disease or disorder|german measles|Rubella infection|three-Day Measles	http://purl.obolibrary.org/obo/MONDO_0004656	A viral infection caused by the rubella virus. It is initially manifested with flu-like symptoms that last one or two days, followed by the development of a characteristic red rash which lasts from one to five days. The rash first appears in the neck and face. It subsequently spreads to the rest of the body.	SNOMEDCT:36653000|MESH:D012409|NCIT:C85051|UMLS:C0035920|DOID:8781
MONDO:0004655	obsolete acute megakaryoblastic leukemia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004655		
MONDO:0004650	malignant carotid body paraganglioma	biolink:Disease	mondo	ICD10:C75.4|ICD9:194.5|DOID:8731|COHD:40487047|UMLS:C0153656|SCTID:447883002|NCIT:C3574		chemodectoma, malignant|carotid body cancer|malignant carotid body neoplasm|malignant tumor of carotid body|malignant tumor of the carotid body|carotid body paraganglioma, malignant|malignant carotid body paraganglioma|malignant neoplasm of carotid body|malignant neoplasm of the carotid body|cancer of carotid body|malignant carotid body tumor (morphologic abnormality)|malignant carotid body tumor	http://purl.obolibrary.org/obo/MONDO_0004650	A carotid body paraganglioma that metastasizes to other anatomic sites.	DOID:8731|UMLS:C0153656|NCIT:C3574|SNOMEDCT:447883002
MONDO:0004652	bacterial pneumonia	biolink:Disease	mondo	ICD9:482.9|COHD:257315|UMLS:C0004626|MESH:D018410|DOID:874|EFO:1001272|SCTID:53084003|ICD10:J15.9|NCIT:C26704|ICD9:482.89		gram-negative pneumonia|Bacteria caused pneumonia|Bacteria pneumonia|pneumonia due to other gram-negative bacteria	http://purl.obolibrary.org/obo/MONDO_0004652	Acute infection of the lung parenchyma caused by bacteria (e.g., Streptococcus pneumoniae, Haemophilus influenzae, Chlamydia pneumoniae, Mycoplasma pneumoniae, and Legionella pneumophila). Signs and symptoms include productive cough, fever, chills, shortness of breath, and chest pain.	DOID:874|MESH:D018410|NCIT:C26704|SNOMEDCT:53084003|UMLS:C0004626
MONDO:0004651	smallpox	biolink:Disease	mondo	SCTID:67924001|DOID:8736|MESH:D012899|ICD9:050.9|ICD9:050|NCIT:C35027|GARD:0007444|UMLS:C0037354|ICD10:B03	gard_rare	variola virus VAR infection|Variola|ordinary smallpox|variola virus infection|smallpox virus infection|Variola virus disease or disorder|Variola virus infectious disease|Variola virus caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0004651	A condition that is caused by infection with Variola, and that is characterized by small, raised bumps.	UMLS:C0037354|MESH:D012899|DOID:8736|NCIT:C35027|SNOMEDCT:67924001
GO:0047598	7-dehydrocholesterol reductase activity	biolink:OntologyClass	mondo			sterol Delta(7)-reductase activity|cholesterol:NADP+ delta7-oxidoreductase activity|sterol delta7-reductase activity|7-DHC reductase activity	http://purl.obolibrary.org/obo/GO_0047598	Catalysis of the reaction: cholesterol + NADP+ = cholesta-5,7-dien-3-beta-ol + NADPH + H+.	
UBERON:0037447	wall of male urethra	biolink:AnatomicalEntity	mondo			male urethral wall	http://purl.obolibrary.org/obo/UBERON_0037447		
MONDO:0016647	autosomal recessive Stickler syndrome	biolink:Disease	mondo	Orphanet:250984|UMLS:CN201875|ICD10:Q87.5	ordo_clinical_subtype	Stickler syndrome, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0016647	A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. Midface hypoplasia, cleft palate, as well as additional skeletal manifestations (such as platyspondyly, scoliosis, and tibial and femoral bowing at birth) have also been observed.	UMLS:CN201875|ORPHA:250984
MONDO:0016648	multiple epiphyseal dysplasia (disease)	biolink:Disease	mondo	Orphanet:251|OMIMPS:132400|COHD:434161|ICD10:Q77.3|DOID:12721|HP:0002654|SCTID:59708000|MedDRA:10028197|GARD:0010756|ICD9:756.56	ordo_group_of_disorders	EDM|polyepiphyseal dysplasia|epiphyseal dysplasia, multiple|MED|multiple epiphyseal dysplasia|Polyepiphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0016648	Multiple epiphyseal dysplasias (MED/EDMs) are characterized by epiphyseal anomalies causing joint pain early in life, recurrent osteochondritis and early arthrosis. The EDMs are a heterogeneous group of diseases with variable expression classed as MED/EDMs 1-6.	SNOMEDCT:59708000|UMLS:C0026760|ORPHA:251|MEDDRA:10028197|DOID:12721
MONDO:0016649	Warburg micro syndrome	biolink:Disease	mondo	ICD10:Q87.0|DOID:0060237|GARD:0005534|UMLS:CN158709|OMIMPS:600118|Orphanet:2510	ordo_malformation_syndrome	Warburg-Sjo-Fledelius syndrome|microcephaly, microcornea, congenital cataract, intellectual disability, optic atrophy and hypogenitalism|Warburg micro syndrome|WARBM|microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy and hypogenitalism|micro syndrome	http://purl.obolibrary.org/obo/MONDO_0016649	Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.	ORPHA:2510|UMLS:C1838625|UMLS:CN158709|DOID:0060237
MONDO:0016643	frontonasal dysplasia	biolink:Disease	mondo	OMIMPS:136760|SCTID:86610004|NCIT:C129028|DC:0000166|GARD:0002392|UMLS:C1876203|MESH:C538065|ICD10:Q75.8|Orphanet:250	ordo_group_of_disorders	median cleft face syndrome|median cleft syndrome|FND1|frontonasal dysplasia 1	http://purl.obolibrary.org/obo/MONDO_0016643	Frontonasal dysplasia caused by mutations in the ALX3 gene, encoding homeobox protein aristaless-like 3. It is inherited in an autosomal recessive fashion.	NCIT:C129028|ORPHA:250|UMLS:C0432106|SNOMEDCT:86610004|UMLS:C1876203|MESH:C538065
MONDO:0016644	logopenic progressive aphasia	biolink:Disease	mondo	SCTID:716380002|ICD10:G31.0|GARD:0010791|Orphanet:250831|UMLS:C4049711	gard_rare|ordo_disease	Logopenic variant PPA|LPA|Logopenic primary progressive aphasia	http://purl.obolibrary.org/obo/MONDO_0016644	Logopenic progressive aphasia (lv-PPA) is a form of primary progressive aphasia (PPA), characterized by impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge.	SNOMEDCT:716380002|UMLS:C4049711|ORPHA:250831
NCBITaxon:1338369	Dipnotetrapodomorpha	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1338369		
MONDO:0016645	obsolete rare neoplastic disease	biolink:Disease	mondo	Orphanet:250908|UMLS:CN201870	ordo_group_of_disorders|obsoletion_candidate	rare neoplasm|rare tumoral disease|rare neoplasm (disease)|rare neoplastic disease|rare neoplastic disease or syndrome	http://purl.obolibrary.org/obo/MONDO_0016645	Either a rare isolated neoplasm or a syndrome with neoplasm as a major feature.	UMLS:CN201870|ORPHA:250908
MONDO:0016646	autosomal dominant optic atrophy and peripheral neuropathy	biolink:Disease	mondo	UMLS:CN201872|Orphanet:250932|ICD10:H47.2	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016646	Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.	UMLS:CN201872|ORPHA:250932
MONDO:0016640	fibrous dysplasia of bone	biolink:Disease	mondo	ICD10:Q78.1|SCTID:10623005|MedDRA:10016664|GARD:0006444|Orphanet:249|MESH:D005357|ICD9:733.29	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0016640	Fibrous dysplasia of bone is a congenital non-hereditary benign bone disease, where normal bone is replaced by a fibrous-like tissue with immature osteogenesis.	ORPHA:249|MEDDRA:10016664|MESH:D005357|UMLS:C0016063|SNOMEDCT:10623005
MONDO:0016641	limb transversal defect-cardiac anomaly syndrome	biolink:Disease	mondo	MESH:C535856|ICD10:Q87.2|Orphanet:2492|UMLS:C2931047	ordo_malformation_syndrome	Hecht-Scott syndrome	http://purl.obolibrary.org/obo/MONDO_0016641		MESH:C535856|UMLS:C2931047|ORPHA:2492
MONDO:0016642	meningioma (disease)	biolink:Disease	mondo	HP:0002858|DOID:3565|ONCOTREE:MNG|GARD:0007015|ICD10:D32.9|UMLS:C0025286|ICDO:9530/0|SCTID:302820008|Orphanet:2495|MESH:D008579|MedDRA:10027191|NCIT:C3230	ordo_disease	meningothelial cell tumor|supratentorial meningioma|neoplasm of the meninges|primary meningeal tumor|meningeal neoplasm|intracranial meningioma|meningioma, NOS|meningioma	http://purl.obolibrary.org/obo/MONDO_0016642	A generally slow growing tumor attached to the dura mater. It is composed of neoplastic meningothelial (arachnoidal) cells. It typically occurs in adults, often women and it has a wide range of histopathological appearances. Of the various subtypes, meningothelial, fibrous and transitional meningiomas are the most common. Most meningiomas are WHO grade I tumors, and some are WHO grade II or III tumors. Most subtypes share a common clinical behavior, although some subtypes are more likely to recur and follow a more aggressive clinical course. (Adapted from WHO)	ORPHA:2495|UMLS:C0025286|MESH:D008579|SNOMEDCT:302820008|DOID:3565|MEDDRA:10027191|NCIT:C3230
HGNC:8079	FRMD7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8079		
MONDO:0004669	salivary gland cancer	biolink:Disease	mondo	ICD10:C08|ICD9:142.8|DOID:8850|NCIT:C3811|SCTID:255072001|MESH:D012468|COHD:4181333		malignant neoplasm of salivary gland|malignant neoplasm of the salivary gland|malignant salivary gland tumor|saliva-secreting gland cancer|malignant saliva-secreting gland neoplasm|cancer of saliva-secreting gland|cancer of salivary gland|malignant salivary gland neoplasm|cancer of the salivary gland|malignant tumor of the Major salivary gland|malignant neoplasm of major salivary gland|malignant tumor of salivary gland|malignant tumor of the salivary gland|malignant neoplasm of saliva-secreting gland|salivary gland cancer|malignant neoplasm of salivary gland duct	http://purl.obolibrary.org/obo/MONDO_0004669	A primary or metastatic malignant neoplasm that affects the major or minor salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma.	NCIT:C3811|MESH:D012468|SNOMEDCT:255072001|DOID:8850
MONDO:0002006	serous labyrinthitis	biolink:Disease	mondo	ICD9:386.31|UMLS:C0155504|DOID:1467|SCTID:41674001		acute serous labyrinthitis	http://purl.obolibrary.org/obo/MONDO_0002006	A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections.	SNOMEDCT:41674001|UMLS:C0155504|DOID:1467
SO:0000011	non_protein_coding	biolink:SequenceFeature	mondo			non protein-coding	http://purl.obolibrary.org/obo/SO_0000011	A gene which can be transcribed, but will not be translated into a protein.	
MONDO:0004668	fascioliasis	biolink:Disease	mondo	EFO:1001324|UMLS:C0015652|ICD10:B66.3|GARD:0006428|MESH:D005211|NCIT:C128387|SCTID:82308007|ICD9:121.3|DOID:885|UMLS:C1331532	gard_rare	infection by fasciola|fasciola hepatica infection|sheep liver fluke infection|liver flukes NOS|Fasciolosis|liver flukes	http://purl.obolibrary.org/obo/MONDO_0004668	A parasitic infection that is caused by liver flukes, usually Fasciola hepatica, of sheep, goats, and cattle. Humans become infected by eating uncooked, infested aquatic vegetation (classically watercress). adult flukes inhabit the bile ducts, gallbladder, and occasionally ectopic sites. Symptoms arise secondary to inflammatory response or obstruction.	UMLS:C0015652|NCIT:C128387|UMLS:C1331532|DOID:885|MESH:D005211|SNOMEDCT:82308007
SO:0000010	protein_coding	biolink:SequenceFeature	mondo			protein-coding	http://purl.obolibrary.org/obo/SO_0000010	A gene which, when transcribed, can be translated into a protein.	
MONDO:0002007	obsolete VACTERL association	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002007		
MONDO:0002008	labyrinthitis	biolink:Disease	mondo	MESH:D007762|ICD9:386.3|ICD9:386.30|DOID:1468|SCTID:23919004|NCIT:C128369|DOID:3930|ICD10:H83.09|UMLS:C0022893|COHD:74052|ICD10:H83.0		internal ear inflammation|inflammation of internal ear|inner ear infection|otitis interna	http://purl.obolibrary.org/obo/MONDO_0002008	Inflammation of the inner ear. The cause is often not clear. It may be due to a virus, but it can also arise from bacterial infection, head injury, extreme stress, an allergy, or as a reaction to medication.	NCIT:C128369|MESH:D007762|DOID:3930|DOID:1468|UMLS:C0022893|SNOMEDCT:23919004
MONDO:0002009	major depressive disorder	biolink:Disease	mondo	MFOMD:0000143|MESH:D003865|ICD10:F32|ICD10:F33.9|ICD10:F32.9|ICD9:296.3|SCTID:370143000|DOID:1470|ICD9:296.2|ICD9:296.20|ICD9:296.30|ICD10:F33		single major depressive episode|recurrent major depression	http://purl.obolibrary.org/obo/MONDO_0002009	An episode of depression lasting two or more weeks without an intervening episode of mania.	MESH:D003865|NCIT:C34796|DOID:1470|SNOMEDCT:370143000
MONDO:0002002	postsurgical hypothyroidism	biolink:Disease	mondo	SCTID:27059002|UMLS:C0154157|ICD10:E89.0|ICD9:244.0|DOID:1458		postoperative hypothyroidism|post-surgical hypothyroidism	http://purl.obolibrary.org/obo/MONDO_0002002		UMLS:C0154157|DOID:1458|SNOMEDCT:27059002
MONDO:0004665	nodular sclerosis classical Hodgkin lymphoma	biolink:Disease	mondo	SCTID:118608000|COHD:4038842|ONCOTREE:NSCHL|EFO:0004708|ICD9:201.5|NCIT:C3518|ICD10:C81.1|DOID:8838|ICDO:9663/3		Hodgkin's disease, nodular sclerosis of unspecified site|Hodgkin lymphoma, nodular sclerosis|nodular sclerosis Classic Hodgkin lymphoma|nodular sclerosis Hodgkin's disease|Hodgkin's disease, nodular sclerosis NOS (morphologic abnormality)|classical Hodgkin lymphoma, nodular sclerosis|NSCHL|NSHD|Hodgkin's lymphoma, nodular sclerosis|NSHL|Hodgkin's disease nodular sclerosis|nodular sclerosis Hodgkin lymphoma|nodular sclerosis Hodgkin's lymphoma|nodular sclerosis classical Hodgkin lymphoma|Hodgkin's disease, nodular sclerosis|Hodgkin's disease nodular sclerosis NOS|Hodgkin's nodular sclerosis	http://purl.obolibrary.org/obo/MONDO_0004665	A subtype of classical Hodgkin lymphoma characterized by collagen bands that surround at least one nodule, and Hodgkin and Reed-Sternberg cells with lacunar type morphology. (WHO, 2008)	SNOMEDCT:118608000|DOID:8838|NCIT:C3518
MONDO:0028618	gastroenteric neuroendocrine neoplasm	biolink:Disease	mondo	Orphanet:481508	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0028618		ORPHA:481508
MONDO:0004664	helminthiasis	biolink:Disease	mondo	ICD9:120-129.99|ICD9:128.8|EFO:1001342|ICD9:128.9|UMLS:C0018889|COHD:441793|GARD:0006578|ICD10:B83.9|DOID:883|MESH:D006373|ICD10:B65.B83|SCTID:27601005|NCIT:C84751|ICD10:B65-B83		parasitic helminthiasis infectious disease|helminthiasis|helminth infection|helminthosis|worm infection	http://purl.obolibrary.org/obo/MONDO_0004664	A parasitic infection characterized by the infestation with worms, mainly in the intestine.	DOID:883|SNOMEDCT:27601005|MESH:D006373|UMLS:C0018889|NCIT:C84751
MONDO:0002003	papilledema	biolink:Disease	mondo	ICD9:377.31|ICD10:H47.1|GARD:0007318|ICD10:H46.0|ICD9:377.0|ICD9:377.00|SCTID:423341008|DOID:146|ICD10:H47.10|NCIT:C3307	gard_rare	edema of the optic disc|papilloedema|Choked disk	http://purl.obolibrary.org/obo/MONDO_0002003	Swelling around the optic disc, usually due to increased intracranial pressure or pressure on the optic nerve by a tumor.	DOID:146|SNOMEDCT:423341008|NCIT:C3307
HGNC:8082	NYX	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8082		
MONDO:0004667	sublingual gland cancer	biolink:Disease	mondo	DOID:8849|NCIT:C3527|SCTID:363381003|UMLS:C0153361|ICD10:C08.1|ICD9:142.2		malignant neoplasm of sublingual gland|cancer of sublingual gland|malignant neoplasm of the sublingual gland|malignant sublingual gland tumor|malignant sublingual gland neoplasm|sublingual gland cancer|malignant tumor of the sublingual gland|malignant tumor of sublingual gland	http://purl.obolibrary.org/obo/MONDO_0004667	A rare malignant neoplasm that arises from the sublingual gland. The majority are carcinomas.	UMLS:C0153361|DOID:8849|SNOMEDCT:363381003|NCIT:C3527
MONDO:0002004	atheroembolism of kidney	biolink:Disease	mondo	ICD10:I75.81|DOID:1460		cholesterol embolism of kidney|kidney cholesterol embolism	http://purl.obolibrary.org/obo/MONDO_0002004	A cholesterol embolism that involves the kidney.	DOID:1460
MONDO:0002005	obsolete acrodysostosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002005		
MONDO:0004666	metagonimiasis	biolink:Disease	mondo	ICD9:121.5|ICD10:B66.8|GARD:0009745|UMLS:C0025530|DOID:884|NCIT:C128390|SCTID:37832003	gard_rare	Metagonimus yokogawai infection|infection by Metagonimus yokogawai|infections, Metagonimus yokogawai	http://purl.obolibrary.org/obo/MONDO_0004666	An infection that is most commonly caused by the intestinal fluke Metagonimus yokogawai, which is most commonly found in the Far East, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection.	NCIT:C128390|UMLS:C0025530|DOID:884|SNOMEDCT:37832003
UBERON:0037455	wall of female urethra	biolink:AnatomicalEntity	mondo			female urethral wall	http://purl.obolibrary.org/obo/UBERON_0037455		
MONDO:0004661	trachea carcinoma in situ	biolink:Disease	mondo	DOID:8802|UMLS:C0154070|ICD9:231.1|ICD10:D02.1|SCTID:92772005|COHD:439772|NCIT:C3639		severe epithelial dysplasia of trachea|carcinoma in situ of the trachea|stage 0 trachea carcinoma|trachea in situ carcinoma|tracheal carcinoma in situ|trachea carcinoma in situ|carcinoma in situ of trachea	http://purl.obolibrary.org/obo/MONDO_0004661	A carcinoma that arises from the tracheal mucosa and is confined to the epithelial layer without evidence of further tissue invasion.	SNOMEDCT:92772005|UMLS:C0154070|DOID:8802|NCIT:C3639
MONDO:0004660	lung carcinoma in situ	biolink:Disease	mondo	DOID:8800|ICD10:D02.2|ICD9:231.2|UMLS:C0685053|SCTID:92649001|NCIT:C27467		stage 0 lung cancer aJCC v7|stage 0 lung cancer aJCC v6|stage 0 lung carcinoma|bronchial carcinoma in situ|lung in situ carcinoma|stage 0 lung cancer|carcinoma in situ of lung|stage 0 lung cancer aJCC v6 and v7	http://purl.obolibrary.org/obo/MONDO_0004660	A carcinoma in situ involving a lung.	UMLS:C0685053|SNOMEDCT:92649001|NCIT:C27467|DOID:8800
MONDO:0004663	colon carcinoma in situ	biolink:Disease	mondo	DOID:8826|COHD:75512|UMLS:C0154061|SCTID:92568009|ICD9:230.3|ICD10:D01.0|NCIT:C3638		colon carcinoma in situ|stage 0 colon cancer aJCC v6 and v7|colon cancer stage 0|stage 0 colon carcinoma|carcinoma in situ of colon|stage 0 colon cancer aJCC v7|stage 0 colon cancer aJCC v6|stage 0 carcinoma of the colon|colonic carcinoma in situ|stage 0 carcinoma of colon|stage 0 colonic carcinoma|carcinoma in situ of the colon|colon in situ carcinoma|stage 0 colon cancer	http://purl.obolibrary.org/obo/MONDO_0004663	A in situ carcinoma that involves the colon.	UMLS:C0154061|SNOMEDCT:92568009|DOID:8826|NCIT:C3638
MONDO:0002000	anaerobic meningitis	biolink:Disease	mondo	UMLS:C0854214|DOID:14559|SCTID:445059005|ICD9:320.81		meningitis due to anaerobic bacteria|meningitis caused by anaerobic bacteria	http://purl.obolibrary.org/obo/MONDO_0002000		DOID:14559|UMLS:C0854214|SNOMEDCT:445059005
MONDO:0004662	heterophyiasis	biolink:Disease	mondo	UMLS:C0152071|NCIT:C128389|ICD10:B66.8|SCTID:22905009|DOID:882|ICD9:121.6		infections, Heterophyes|Heterophyes infection|Heterophyes infectious disease	http://purl.obolibrary.org/obo/MONDO_0004662	An infection that is caused by the intestinal fluke Heterophyes heterophyes, which is most commonly found in Asia, the Middle East, and Africa, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection.	NCIT:C128389|DOID:882|SNOMEDCT:22905009|UMLS:C0152071
MONDO:0002001	obsolete disease of cellular proliferation	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0002001		
MONDO:0016629	hemorrhagic disorder due to a platelet anomaly	biolink:Disease	mondo	UMLS:CN236380|Orphanet:248326	obsoletion_candidate|ordo_group_of_disorders	rare coagulopathy due to a platelet anomaly|rare coagulopathy due to a thrombopathy and/or thrombocytopenia|rare bleeding disorder due to a platelet anomaly|rare bleeding disorder due to a thrombopathy and/or thrombocytopenia|rare hemorrhagic disorder due to a thrombopathy and/or thrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0016629		UMLS:CN236380|ORPHA:248326
GO:0060561	apoptotic process involved in morphogenesis	biolink:OntologyClass	mondo			apoptosis involved in development|apoptosis involved in morphogenesis|morphogenetic apoptosis	http://purl.obolibrary.org/obo/GO_0060561	Any apoptotic process that contributes to the shaping of an anatomical structure.	
GO:0060562	epithelial tube morphogenesis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060562	The process in which the anatomical structures of a tube are generated and organized from an epithelium. Epithelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system.	
MONDO:0016636	thrombotic disorder due to a constitutional platelet anomaly	biolink:Disease	mondo	UMLS:CN226986|Orphanet:248401	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016636		UMLS:CN226986|ORPHA:248401
MONDO:0016637	thrombotic disorder due to an acquired platelet anomaly	biolink:Disease	mondo	UMLS:CN226987|Orphanet:248404	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016637		UMLS:CN226987|ORPHA:248404
MONDO:0016638	familial hypodysfibrinogenemia	biolink:Disease	mondo	Orphanet:248408|UMLS:CN201839|ICD10:D68.2	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0016638		UMLS:CN201839|ORPHA:248408
MONDO:0016639	lower limb deficiency-hypospadias syndrome	biolink:Disease	mondo	Orphanet:2487|MESH:C535640|UMLS:C2930962	ordo_malformation_syndrome	Fried-Goldberg-Mundel syndrome|lower limb malformation-hypospadias syndrome	http://purl.obolibrary.org/obo/MONDO_0016639	Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (incl. tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977.	UMLS:C2930962|ORPHA:2487|MESH:C535640
MONDO:0016632	thrombotic disorder due to a coagulation factors defect	biolink:Disease	mondo	Orphanet:248358|UMLS:CN226982	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0016632		UMLS:CN226982|ORPHA:248358
MONDO:0016633	thrombotic disorder due to a constitutional coagulation factors defect	biolink:Disease	mondo	Orphanet:248361|UMLS:CN226983	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016633		UMLS:CN226983|ORPHA:248361
MONDO:0016634	thrombotic disorder due to an acquired coagulation factors defect	biolink:Disease	mondo	UMLS:CN226984|Orphanet:248365	obsoletion_candidate|ordo_group_of_disorders	acquired rare thrombotic disorder due to a coagulation factors defect	http://purl.obolibrary.org/obo/MONDO_0016634	An instance of rare thrombotic disorder due to a coagulation factors defect that is acquired during the lifetime of the individual.	UMLS:CN226984|ORPHA:248365
MONDO:0016635	thrombotic disorder due to a platelet anomaly	biolink:Disease	mondo	UMLS:CN226985|Orphanet:248368	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0016635		UMLS:CN226985|ORPHA:248368
HGNC:8086	OAS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8086		
MONDO:0016630	isolated delta-storage pool disease	biolink:Disease	mondo	UMLS:CN201837|ICD10:D69.1|Orphanet:248340	ordo_disease	isolated delta-SPD|isolated dense-storage pool disease|isolated dense-SPD	http://purl.obolibrary.org/obo/MONDO_0016630	Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery.	UMLS:CN201837|ORPHA:248340
MONDO:0016631	hemorrhagic disorder due to an acquired platelet anomaly	biolink:Disease	mondo	Orphanet:248347|UMLS:CN226981	ordo_group_of_disorders|obsoletion_candidate	rare hemorrhagic disorder due to an acquired thrombopathy and/or thrombocytopenia|rare coagulopathy due to an acquired platelet anomaly|rare coagulopathy due to an acquired thrombopathy and/or thrombocytopenia|rare bleeding disorder due to an acquired platelet anomaly|rare bleeding disorder due to an acquired thrombopathy and/or thrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0016631	A hemorrhagic disorder due to a platelet anomaly which develops after birth.	UMLS:CN226981|ORPHA:248347
UBERON:0003728	mediastinum	biolink:AnatomicalEntity	mondo			mediastinal part of chest	http://purl.obolibrary.org/obo/UBERON_0003728	The central part of the thoracic cavity enclosed by the left and right pleurae.	
UBERON:0003729	mouth mucosa	biolink:AnatomicalEntity	mondo			tunica mucosa oris|oral mucosa|oral mucous membrane|buccal mucosa|mucous membrane of mouth|mucosa of mouth|mouth mucosa|oral part of viscerocranial mucosa|mouth organ mucosa|mouth mucous membrane|tunica mucosa oris|mucosal lining of mouth	http://purl.obolibrary.org/obo/UBERON_0003729	A mucous membrane that lines the mouth.	
UBERON:0003726	thoracic nerve	biolink:AnatomicalEntity	mondo			nervi thoracici|nervus thoracis|pectoral nerve|thoracic spinal nerve	http://purl.obolibrary.org/obo/UBERON_0003726	The twelve spinal nerves on each side of the thorax. They include eleven INTERCOSTAL NERVES and one subcostal nerve. Both sensory and motor, they supply the muscles and skin of the thoracic and abdominal walls.	
UBERON:0003727	intercostal nerve	biolink:AnatomicalEntity	mondo			nervi intercostales|anterior ramus of thoracic nerve|ramus anterior, nervus thoracicus|anterior ramus of thoracic spinal nerve|ventral ramus of thoracic spinal nerve|thoracic anterior ramus	http://purl.obolibrary.org/obo/UBERON_0003727	The intercostal nerves are the anterior divisions (rami anteriores; ventral divisions) of the thoracic spinal nerves from T1 to T11. Each nerve is connected with the adjoining ganglion of the sympathetic trunk by a gray and a white ramus communicans. The intercostal nerves are distributed chiefly to the thoracic pleura and abdominal peritoneum and differ from the anterior divisions of the other spinal nerves in that each pursues an independent course without plexus formation. The first two nerves supply fibers to the upper limb in addition to their thoracic branches; the next four are limited in their distribution to the parietes of the thorax; the lower five supply the parietes of the thorax and abdomen. The 7th intercostal nerve terminates at the xyphoid process, at the lower end of the sternum. The 10th intercostal nerve terminates at the umbilicus. The twelfth thoracic is distributed to the abdominal wall and groin. [WP,unvetted].	
UBERON:0003724	musculocutaneous nerve	biolink:AnatomicalEntity	mondo			nervus musculocutaneus|casserio's nerve	http://purl.obolibrary.org/obo/UBERON_0003724	a large branch of the brachial plexus supplying various parts of the upper arm (as flexor muscles) and forearm (as the skin).	
UBERON:0003725	cervical nerve plexus	biolink:AnatomicalEntity	mondo			cervical nerve plexus|plexus cervicalis|plexus cervicalis|cervical plexus	http://purl.obolibrary.org/obo/UBERON_0003725	An arrangement of nerve fibers, running from the spine that travels to the head and neck where it innervates skin and muscle.	
CHEBI:36586	carbonyl compound	biolink:ChemicalSubstance	mondo			carbonyl compounds	http://purl.obolibrary.org/obo/CHEBI_36586	Any compound containing the carbonyl group, C=O. The term is commonly used in the restricted sense of aldehydes and ketones, although it actually includes carboxylic acids and derivatives.	
CHEBI:36587	organic oxo compound	biolink:ChemicalSubstance	mondo			organic oxo compounds|oxo compounds	http://purl.obolibrary.org/obo/CHEBI_36587	Organic compounds containing an oxygen atom, =O, doubly bonded to carbon or another element.	
UBERON:0003715	splanchnic nerve	biolink:AnatomicalEntity	mondo			visceral nerve|splanchnic nerves	http://purl.obolibrary.org/obo/UBERON_0003715	The major nerves supplying sympathetic innervation to the abdomen, including the greater, lesser, and lowest (or smallest) splanchnic nerves that are formed by preganglionic fibers from the spinal cord which pass through the paravertebral ganglia and then to the celiac ganglia and plexuses and the lumbar splanchnic nerves carry fibers which pass through the lumbar paravertebral ganglia to the mesenteric and hypogastric ganglia.	
UBERON:0003716	recurrent laryngeal nerve	biolink:AnatomicalEntity	mondo			inferior laryngeal nerve|ramus recurrens|nervus laryngeus recurrens|recurrent nerve|vagus X nerve recurrent laryngeal branch|recurrent laryngeal nerve from vagus nerve	http://purl.obolibrary.org/obo/UBERON_0003716	A branch of the vagus nerve that supplies motor function and sensation to the larynx (voice box). It travels within the endoneurium. It is the nerve of the 6th Branchial Arch.	
UBERON:0003713	splenic vein	biolink:AnatomicalEntity	mondo			lienal vein|vena splenica|vena lienalis	http://purl.obolibrary.org/obo/UBERON_0003713	A vein arising from the splenic trabecular vein in the hilum of the spleen that drains into the portal vein.	
UBERON:0003714	neural tissue	biolink:AnatomicalEntity	mondo			nerve tissue|portion of neural tissue|nervous tissue	http://purl.obolibrary.org/obo/UBERON_0003714	Portion of tissue in the nervous system which consists of neurons and glial cells, and may also contain parts of the vasculature.	
CHEBI:48560	dopaminergic agent	biolink:ChemicalSubstance	mondo			dopaminergic agents|dopamine agents|dopamine agent|dopamine drugs|dopamine drug	http://purl.obolibrary.org/obo/CHEBI_48560	A drug used for its effects on dopamine receptors, on the life cycle of dopamine, or on the survival of dopaminergic neurons.	
CHEBI:131604	Mycoplasma genitalium metabolite	biolink:ChemicalSubstance	mondo			Mycoplasma genitalium metabolites	http://purl.obolibrary.org/obo/CHEBI_131604	Any bacterial metabolite produced during a metabolic reaction in Mycoplasma genitalium.	
GO:0047708	biotinidase activity	biolink:OntologyClass	mondo			amidohydrolase biotinidase activity|biotin-amide amidohydrolase activity	http://purl.obolibrary.org/obo/GO_0047708	Catalysis of the reaction: biotin amide + H2O = biotin + NH3.	
UBERON:0003722	middle cranial fossa	biolink:AnatomicalEntity	mondo			fossa cranii media|middle fossa	http://purl.obolibrary.org/obo/UBERON_0003722	The compartment containing the anterior extremities and half the inferior surface of the temporal lobes (TEMPORAL LOBE) of the cerebral hemispheres. Lying posterior and inferior to the anterior cranial fossa (CRANIAL FOSSA, ANTERIOR), it is formed by part of the TEMPORAL BONE and SPHENOID BONE. It is separated from the posterior cranial fossa (CRANIAL FOSSA, POSTERIOR) by crests formed by the superior borders of the petrous parts of the temporal bones[MESH]. The middle fossa, deeper than the anterior cranial fossa, is narrow medially and widens laterally to the sides of the skull. It is separated from the posterior fossa by the clivus and the petrous crest. It is bounded in front by the posterior margins of the lesser wings of the sphenoid bone, the anterior clinoid processes, and the ridge forming the anterior margin of the chiasmatic groove; behind, by the superior angles of the petrous portions of the temporal bones and the dorsum sellC&; laterally by the temporal squamC&, sphenoidal angles of the parietals, and greater wings of the sphenoid. It is traversed by the squamosal, sphenoparietal, sphenosquamosal, and sphenopetrosal sutures[WP].	
UBERON:0003723	vestibular nerve	biolink:AnatomicalEntity	mondo			nervus vestibularis|scarpa's ganglion|vestibulocochlear VIII nerve vestibular component|scarpas ganglion|scarpa ganglion|vestibular root of acoustic nerve|vestibular root of eighth cranial nerve|vestibulocochlear nerve vestibular root	http://purl.obolibrary.org/obo/UBERON_0003723	The vestibular nerve is one of the two branches of the Vestibulocochlear nerve (the cochlear nerve being the other). It goes to the semicircular canals via the vestibular ganglion. It receives positional information. Axons of the vestibular nerve synapse in the vestibular nucleus on the lateral floor and wall of the fourth ventricle in the pons and medulla. It arises from bipolar cells in the vestibular ganglion, ganglion of Scarpa, which is situated in the upper part of the outer end of the internal auditory meatus. [WP,unvetted].	
UBERON:0003720	anterior cranial fossa	biolink:AnatomicalEntity	mondo			anterior fossa|fossa cranii anterior	http://purl.obolibrary.org/obo/UBERON_0003720	The floor of the anterior fossa is formed by the orbital plates of the frontal, the cribriform plate of the ethmoid, and the small wings and front part of the body of the sphenoid; it is limited behind by the posterior borders of the small wings of the sphenoid and by the anterior margin of the chiasmatic groove. The lesser wings of the sphenoid separate the anterior and middle fossae.	
UBERON:0003721	lingual nerve	biolink:AnatomicalEntity	mondo			trigeminal nerve lingual branch|trigeminal V nerve lingual branch|lingual branch of trigeminal nerve	http://purl.obolibrary.org/obo/UBERON_0003721	The lingual nerve is a branch of the mandibular nerve (CN V3), itself a branch of the trigeminal nerve, which supplies sensory innervation to the tongue. It also carries fibers from the facial nerve, which return taste information from the anterior two thirds of the tongue.	
UBERON:0003709	circle of Willis	biolink:AnatomicalEntity	mondo			arterial circle|arterial circle of Willis|Willis circle|circulus arteriosus cerebri|cerebral arterial circle	http://purl.obolibrary.org/obo/UBERON_0003709	A circle of arteries that supply blood to the brain. The Circle of Willis comprises the following arteries: Anterior cerebral artery (left and right); Anterior communicating artery; Internal carotid artery (left and right); Posterior cerebral artery (left and right); Posterior communicating artery (left and right).The basilar artery and middle cerebral arteries, supplying the brain, are also considered part of the circle	
UBERON:0003706	laryngeal vocal fold	biolink:AnatomicalEntity	mondo			vocal chord|vocal band|true vocal cord|vocal cord|vocal fold|plica vocalis	http://purl.obolibrary.org/obo/UBERON_0003706	Either of two pairs of folds of mucous membrane projecting into the larynx.	
UBERON:0003707	sinus of Valsalva	biolink:AnatomicalEntity	mondo			sinus aorta|sinus of Morgagni|aortic sinus|Petit sinus|Valsalva sinus|Petit's sinus|sinus of Otto|sinus aortae	http://purl.obolibrary.org/obo/UBERON_0003707	one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve.	
UBERON:0003704	intrahepatic bile duct	biolink:AnatomicalEntity	mondo			bile duct intrahepatic part|intrahepatic biliary system	http://purl.obolibrary.org/obo/UBERON_0003704	Passages within the liver for the conveyance of bile. Includes right and left hepatic ducts even though these may join outside the liver to form the common hepatic duct.	
UBERON:0003705	Meckel's diverticulum	biolink:AnatomicalEntity	mondo			meckel diverticulum|ileal diverticulum|diverticulum of Meckel|Meckels diverticulum|Meckel's diverticulum	http://purl.obolibrary.org/obo/UBERON_0003705	A small bulge in the small intestine present at birth. It is a vestigial remnant of the omphalomesenteric duct	
UBERON:0003703	extrahepatic bile duct	biolink:AnatomicalEntity	mondo			bile duct extrahepatic part|extrahepatic biliary system	http://purl.obolibrary.org/obo/UBERON_0003703	Passages external to the liver for the conveyance of bile. These include the common bile duct and the common hepatic duct.	
UBERON:0003711	brachiocephalic vein	biolink:AnatomicalEntity	mondo			innomiate vein|venae anonyma|vena brachiocephalica|innominate vein|brachiocephalic venous tree|innominate vein|innominate trunk|innominate veins	http://purl.obolibrary.org/obo/UBERON_0003711	The left and right brachiocephalic veins in the upper chest are formed by the union of each corresponding internal jugular vein and subclavian vein. This is at the level of the sternoclavicular joint. These great vessels merge to form the superior vena cava. The brachiocephalic veins are the major veins returning blood to the superior vena cava.	
UBERON:0003712	cavernous sinus	biolink:AnatomicalEntity	mondo			sinus cavernosus|cavernous|parasellar syndrome|cavernous sinuses|cavernus sinus vein|cavernous sinus syndrome	http://purl.obolibrary.org/obo/UBERON_0003712	The cavernous sinus (or lateral sellar compartment), within the human head, is a large collection of thin-walled veins creating a cavity bordered by the temporal bone of the skull and the sphenoid bone, lateral to the sella turcica.	
NCBITaxon:189359	Xylariales incertae sedis	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_189359		
UBERON:0003701	calcaneal tendon	biolink:AnatomicalEntity	mondo			Achilles' tendon|tendo calcaneus|Achille's tendon|calcaneal tendon|Achilles tendon|tendo Achillis	http://purl.obolibrary.org/obo/UBERON_0003701	The Achilles tendon is a tendon of the posterior leg. It serves to attach the plantaris, gastrocnemius (calf) and soleus muscles to the calcaneus (heel) bone.	
UBERON:0015757	heterogeneous tissue	biolink:AnatomicalEntity	mondo			portion of heterogeneous tissue	http://purl.obolibrary.org/obo/UBERON_0015757		
HGNC:34	ABCA4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/34		
HGNC:33	ABCA3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/33		
UBERON:0015751	inferior tarsal muscle	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015751	A smooth muscle tissue that is part of a inferior eyelid tarsus.	
HGNC:37	ABCA7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/37		
HGNC:29	ABCA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29		
UBERON:0001114	right lobe of liver	biolink:AnatomicalEntity	mondo			right hepatic lobe|liver right lobe|right liver lobe|gall bladder lobe|lobus hepaticus dexter|second lobe|2nd lobe|lobus hepatis dexter	http://purl.obolibrary.org/obo/UBERON_0001114	The right lobe is much larger than the left; the proportion between them being as six to one. It occupies the right hypochondrium, and is separated from the left lobe on its upper surface by the falciform ligament; on its under and posterior surfaces by the left sagittal fossa; and in front by the umbilical notch. It is of a somewhat quadrilateral form, its under and posterior surfaces being marked by three fossæ: the porta and the fossæ for the gall-bladder and inferior vena cava, which separate its left part into two smaller lobes; the quadrate and caudate lobes. [WP,unvetted].	
UBERON:0001113	lobe of liver	biolink:AnatomicalEntity	mondo			hepatic lobe|liver lobe|lobus hepatis	http://purl.obolibrary.org/obo/UBERON_0001113	Traditional gross anatomy divided the liver into four lobes based on surface features. The falciform ligament is visible on the front (anterior side) of the liver. This divides the liver into a left anatomical lobe, and a right anatomical lobe.	
UBERON:0001115	left lobe of liver	biolink:AnatomicalEntity	mondo			liver left lobe|lobus hepaticus sinister|lobus hepatis sinister|left hepatic lobe|left liver lobe	http://purl.obolibrary.org/obo/UBERON_0001115	The left lobe is smaller and more flattened than the right. It is situated in the epigastric and left hypochondriac regions. Its upper surface is slightly convex and is moulded on to the diaphragm; its under surface presents the gastric impression and omental tuberosity. [WP,unvetted].	
HGNC:40	ABCB1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/40		
HGNC:43	TAP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/43		
HGNC:42	ABCB11	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/42		
HGNC:45	ABCB4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/45		
HGNC:44	TAP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/44		
HGNC:47	ABCB6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/47		
HGNC:48	ABCB7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/48		
UBERON:0001103	diaphragm	biolink:AnatomicalEntity	mondo			diaphragm muscle|diaphragm of thorax|phren|thoracic diaphragm|midriff	http://purl.obolibrary.org/obo/UBERON_0001103	A thin musculomebranous barrier that separates the abdominal and thoracic cavities. Often used for breathing control	
UBERON:0001102	cartilage of main bronchus	biolink:AnatomicalEntity	mondo			bronchus principalis cartilage|main bronchus cartilage|cartilage of primary bronchus|main bronchial cartilage|principal bronchus cartilage|cartilaginous ring of main bronchus|cartilage of bronchus principalis|primary bronchus cartilage|cartilage of principal bronchus	http://purl.obolibrary.org/obo/UBERON_0001102	A cartilage that is part of a main bronchus [Automatically generated definition].	
CHEBI:36527	glycosylsphingoid	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_36527		
HGNC:20	AARS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20		
HGNC:23	ABAT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/23		
HGNC:19	AANAT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19		
HGNC:8008	NRXN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8008		
UBERON:0015717	smooth muscle tissue layer of ejaculatory duct	biolink:AnatomicalEntity	mondo			muscle layer of ejaculatory duct	http://purl.obolibrary.org/obo/UBERON_0015717	A smooth muscle tissue that is part of a ejaculatory duct.	
UBERON:0015716	anal canal epithelium	biolink:AnatomicalEntity	mondo			anal canal epithelium|epithelium of anal canal	http://purl.obolibrary.org/obo/UBERON_0015716	A epithelium that is part of a anal canal.	
HGNC:8002	NRL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/8002		
GO:0008168	methyltransferase activity	biolink:OntologyClass	mondo			methylase	http://purl.obolibrary.org/obo/GO_0008168	Catalysis of the transfer of a methyl group to an acceptor molecule.	
HGNC:28396	TMEM67	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28396		
GO:0008172	S-methyltransferase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0008172	Catalysis of the transfer of a methyl group to the sulfur atom of an acceptor molecule.	
GO:0033120	positive regulation of RNA splicing	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0033120	Any process that activates or increases the frequency, rate or extent of RNA splicing.	
GO:0033119	negative regulation of RNA splicing	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0033119	Any process that stops, prevents, or reduces the frequency, rate or extent of RNA splicing.	
PATO:0001985	frozen	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0001985	A quality inhering in a bearer by virtue of the bearer's being kept below its freezing point.	
NCBITaxon:11909	Human T-lymphotropic virus 2	organism taxon	mondo	GC_ID:1		human T-cell leukemia virus II|HTLV-2|Human T-lymphotropic virus Type II|Human T-Cell leukemia virus type 2|Human T-cell lymphotropic virus type 2|HTLV-II|Human lymphotropic virus type 2|human T cell leukemia virus II HTLV-II|human T-cell lymphotropic virus type II HTLV-II|human T lymphotropic virus type II HTLV-II|Human lymphotropic virus type II|Human T-cell lymphotropic virus type II|Human T-cell leukemia virus type II	http://purl.obolibrary.org/obo/NCBITaxon_11909		
NCBITaxon:11908	Human T-cell leukemia virus type I	organism taxon	mondo	GC_ID:1		Human lymphotropic virus type I|Human T-cell leukemia virus-1|Human T-lymphotropic virus type 1|Human T cell leukemia virus type 1|Human T-cell lymphotropic virus 1|HTLV-1|human T-cell leukemia virus type 1 HTLV-1|Human T-cell leukemia virus type I HTLV-I|human T-cell lymphoma/leukemia virus type I HTLV-I|Human T-cell leukemia virus type 1|human T cell lymphotropic virus type I HTLV-I|human T cell leukemia virus type 1 HTLV-1|Human T-lymphotropic virus 1|human T-cell lymphotropic virus type 1, HTLV-1|human T-cell leukemia/lymphotropic virus type I HTLV-I|human T-lymphotropic virus type 1 HTLV-1|HTLV-I|human T-lymphotropic virus type I HTLV-I|Human adult T-cell leukemia virus|human T-cell leukemia virus I|human T-cell leukemia/lymphoma virus type I HTLV-I|Human T-cell lymphotropic virus type 1|Human T-cell lymphotropic virus type I	http://purl.obolibrary.org/obo/NCBITaxon_11908		
GO:0035773	insulin secretion involved in cellular response to glucose stimulus	biolink:OntologyClass	mondo			insulin secretion involved in cellular response to glucose	http://purl.obolibrary.org/obo/GO_0035773	The regulated release of proinsulin from secretory granules (B granules) in the B cells of the pancreas; accompanied by cleavage of proinsulin to form mature insulin, in response to a glucose stimulus.	
GO:0035774	positive regulation of insulin secretion involved in cellular response to glucose stimulus	biolink:OntologyClass	mondo			positive regulation of insulin secretion in response to glucose	http://purl.obolibrary.org/obo/GO_0035774	Any process that increases the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose.	
HP:0007435	Diffuse palmoplantar keratoderma	biolink:PhenotypicFeature	mondo	MSH:D015776|SNOMEDCT_US:400123002|UMLS:C0022584			http://purl.obolibrary.org/obo/HP_0007435		
HGNC:16391	CARD9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16391		
HGNC:16393	CARD11	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16393		
PATO:0001997	decreased amount	biolink:OntologyClass	mondo			decreased|subnumerary|reduced|present in fewer numbers in organism|decreased number	http://purl.obolibrary.org/obo/PATO_0001997	An amount which is relatively low.	
PATO:0001995	organismal quality	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0001995	A quality that inheres in an entire organism or part of an organism.	
GO:0008144	drug binding	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0008144	Interacting selectively and non-covalently with a drug, any naturally occurring or synthetic substance, other than a nutrient, that, when administered or applied to an organism, affects the structure or functioning of the organism; in particular, any such substance used in the diagnosis, prevention, or treatment of disease.	
GO:0008152	metabolic process	biolink:OntologyClass	mondo			metabolism resulting in cell growth|metabolism|multicellular organism metabolic process|metabolic process resulting in cell growth|single-organism metabolic process	http://purl.obolibrary.org/obo/GO_0008152	The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation.	
GO:0008150	biological_process	biolink:OntologyClass	mondo			single-organism process|physiological process|biological process|single organism process	http://purl.obolibrary.org/obo/GO_0008150	A biological process represents a specific objective that the organism is genetically programmed to achieve. Biological processes are often described by their outcome or ending state, e.g., the biological process of cell division results in the creation of two daughter cells (a divided cell) from a single parent cell. A biological process is accomplished by a particular set of molecular functions carried out by specific gene products (or macromolecular complexes), often in a highly regulated manner and in a particular temporal sequence.	
HGNC:28385	VWA3B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28385		
HGNC:28358	D2HGDH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28358		
HGNC:16378	OTOA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16378		
HGNC:16380	TRIM32	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16380		
GO:0035735	intraciliary transport involved in cilium assembly	biolink:OntologyClass	mondo			intraflagellar transport involved in cilium morphogenesis|intraflagellar transport|intraciliary transport involved in cilium morphogenesis	http://purl.obolibrary.org/obo/GO_0035735	The bidirectional movement of large protein complexes along microtubules within a cilium that contributes to cilium assembly.	
HGNC:28369	THOC6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28369		
GO:0008104	protein localization	biolink:OntologyClass	mondo			protein localisation|asymmetric protein localization|establishment and maintenance of protein localization|asymmetric protein localisation|establishment and maintenance of asymmetric protein localization	http://purl.obolibrary.org/obo/GO_0008104	Any process in which a protein is transported to, or maintained in, a specific location.	
HGNC:28337	C9orf72	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28337		
NCBITaxon:118968	Coxiellaceae	organism taxon	mondo	PMID:16280474|GC_ID:11		Coxiella group	http://purl.obolibrary.org/obo/NCBITaxon_118968		
NCBITaxon:118969	Legionellales	organism taxon	mondo	PMID:16280474|GC_ID:11		Legionellaceae group	http://purl.obolibrary.org/obo/NCBITaxon_118969		
HGNC:16356	USH1G	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16356		
HGNC:16353	MAGED2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16353		
HGNC:16361	WHRN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16361		
GO:0008119	thiopurine S-methyltransferase activity	biolink:OntologyClass	mondo			TPMT|mercaptopurine methyltransferase activity|S-adenosyl-L-methionine:thiopurine S-methyltransferase activity|thiopurine methyltransferase activity|6-thiopurine transmethylase activity	http://purl.obolibrary.org/obo/GO_0008119	Catalysis of the reaction: S-adenosyl-L-methionine + a thiopurine = S-adenosyl-L-homocysteine + a thiopurine S-methylether.	
HGNC:16369	PARK7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16369		
MONDO:0004599	barbiturate abuse	biolink:Disease	mondo	ICD9:305.43|SCTID:231462006|DOID:8519			http://purl.obolibrary.org/obo/MONDO_0004599	A substance abuse that involves the recurring use of barbiturate drugs despite negative consequences.	DOID:8519|SNOMEDCT:231462006
MONDO:0004598	acute cor pulmonale	biolink:Disease	mondo	UMLS:C0155672|COHD:312927|ICD10:I26.09|SCTID:49584005|DOID:8517|ICD9:415.0		cor pulmonale, acute	http://purl.obolibrary.org/obo/MONDO_0004598	Acute form of cor pulmonale.	SNOMEDCT:49584005|DOID:8517|UMLS:C0155672
MONDO:0004595	acute pulmonary heart disease	biolink:Disease	mondo	UMLS:C0155671|SCTID:67189007|DOID:8514|ICD9:415			http://purl.obolibrary.org/obo/MONDO_0004595		DOID:8514|SNOMEDCT:67189007|UMLS:C0155671
MONDO:0004594	puerperal pulmonary embolism	biolink:Disease	mondo	ICD9:673|SCTID:200284000|ICD10:O88.23|ICD10:O88.21|DOID:8512|ICD9:673.81|ICD9:673.80			http://purl.obolibrary.org/obo/MONDO_0004594		DOID:8512|SNOMEDCT:200284000
HGNC:28434	CCNQ	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28434		
MONDO:0004597	pulmonary embolism and infarction	biolink:Disease	mondo	SCTID:64662007|ICD9:415.19|DOID:8516|NCIT:C50714|ICD9:415.1|MESH:D054060|EFO:1001408		infarction, pulmonary|lung infarction|pulmonary infarction	http://purl.obolibrary.org/obo/MONDO_0004597	Localized necrosis of lung tissue caused by obstruction of the arterial blood supply, most often due to pulmonary embolism.	DOID:8516|SNOMEDCT:64662007|MESH:D054060|NCIT:C50714
MONDO:0004596	cor pulmonale	biolink:Disease	mondo	ICD10:I27.81|COHD:4307356|MESH:D011660|ICD10:I27.9|SCTID:274096000|UMLS:C0034072|DOID:8515		cor pulmonale|pulmonary heart diseases|heart diseases, pulmonary|diseases, pulmonary heart|heart disease, pulmonary|pulmonary heart disease|disease, pulmonary heart|cardiopulmonary disease	http://purl.obolibrary.org/obo/MONDO_0004596	Hypertrophy and dilation of the right ventricle of the heart that is caused by pulmonary hypertension. This condition is often associated with pulmonary parenchymal or vascular diseases, such as chronic obstructive pulmonary disease and pulmonary embolism.	DOID:8515|SNOMEDCT:274096000|MESH:D011660|UMLS:C0034072
MONDO:0004591	impetigo herpetiformis	biolink:Disease	mondo	SCTID:65539006|DOID:8503|ICD9:694.3|UMLS:C1314968|EFO:1000715|ICD10:L40.1			http://purl.obolibrary.org/obo/MONDO_0004591	An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy.	SNOMEDCT:65539006|UMLS:C1314968|DOID:8503
MONDO:0004590	obsolete fundus dystrophy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004590		
MONDO:0004593	Bartholin duct cyst	biolink:Disease	mondo	ICD10:N75.0|UMLS:C0004767|COHD:259865|SCTID:57044006|DOID:851|ICD9:616.2		Bartholin's cyst|cyst of Bartholin's gland duct|Bartholin's duct cyst|cyst of Bartholin's gland	http://purl.obolibrary.org/obo/MONDO_0004593	Distension of the Bartholin gland duct caused by an accumulation of mucus in the duct, usually as a result of obstruction of the gland duct orifice.	UMLS:C0004767|SNOMEDCT:57044006|DOID:851|NCIT:C26706
MONDO:0004592	impetigo	biolink:Disease	mondo	NCIT:C99088|MESH:D007169|SCTID:48277006|DOID:8504|ICD10:L01.00|UMLS:C0021099|COHD:140480|ICD10:L01.0|ICD10:L01|EFO:1000714|ICD9:684			http://purl.obolibrary.org/obo/MONDO_0004592	A contagious bacterial cutaneous infection that affects children and is usually caused by Staphylococcus aureus. It usually presents in the face with honey colored scabs.	DOID:8504|SNOMEDCT:48277006|MESH:D007169|NCIT:C99088|UMLS:C0021099
GO:0033085	negative regulation of T cell differentiation in thymus	biolink:OntologyClass	mondo			negative regulation of thymocyte cell differentiation|negative regulation of thymocyte differentiation|negative regulation of T cell development in thymus|negative regulation of thymic T cell differentiation	http://purl.obolibrary.org/obo/GO_0033085	Any process that stops, prevents, or reduces the frequency, rate or extent of T cell differentiation in the thymus.	
MONDO:0016588	infantile mercury poisoning	biolink:Disease	mondo	Orphanet:247165|SCTID:66695004|UMLS:CN201782|ICD10:T56.1|MESH:D000170	ordo_disease	infantile mercury intoxication|pink disease|Swift-Feer disease|Swift disease|infantile acrodynia|Feer disease|erythroedema polyneuritis	http://purl.obolibrary.org/obo/MONDO_0016588	Infantile mercury poisoning is a rare intoxication affecting children, most commonly characterized by erythema of the hands, feet and nose, edematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paresthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss, and insomnia.	SNOMEDCT:66695004|MESH:D000170|UMLS:CN201782|ORPHA:247165
MONDO:0016589	progressive cerebello-cerebral atrophy	biolink:Disease	mondo	Orphanet:247198	ordo_disease	PCCA	http://purl.obolibrary.org/obo/MONDO_0016589		ORPHA:247198
GO:0033081	regulation of T cell differentiation in thymus	biolink:OntologyClass	mondo			regulation of thymocyte cell differentiation|regulation of T cell development in thymus|regulation of thymocyte differentiation|regulation of thymic T cell differentiation	http://purl.obolibrary.org/obo/GO_0033081	Any process that modulates the frequency, rate or extent of T cell differentiation in the thymus.	
MONDO:0041535	mesenteric lymphadenitis due to Yersinia infection	biolink:Disease	mondo	SCTID:13272007|UMLS:C0275758		mesenteric lymphadenitis due to Yersinia pseudotuberculosis|Yersinia pseudotuberculosis caused mesenteric lymphadenitis|Yersinia pseudotuberculosis mesenteric lymphadenitis|lymphadenitis mesenterialis Masshoff|Masshoff's syndrome	http://purl.obolibrary.org/obo/MONDO_0041535	An mesenteric lymphadenitis caused by infection with Yersinia pseudotuberculosis.	SNOMEDCT:13272007|UMLS:C0275758
MONDO:0041536	Far-East scarlet-like fever	biolink:Disease	mondo	SCTID:47277009|UMLS:C0277513		FESLF|Izumi fever	http://purl.obolibrary.org/obo/MONDO_0041536	A severe inflammatory disease that occurs sporadically and in outbreaks in Russia and Japan, caused by Yersinia pseudotubuclosis infection, an organism that typically causes self-limiting gastroenteritis in Europe.	SNOMEDCT:47277009|UMLS:C0277513
MONDO:0016584	mandibuloacral dysplasia	biolink:Disease	mondo	ICD10:Q87.5|GARD:0011893|UMLS:CN118835|DC:0000267|Orphanet:2457|OMIMPS:248370	ordo_malformation_syndrome	mandibuloacral dysplasia with lipodystrophy|MAD	http://purl.obolibrary.org/obo/MONDO_0016584	Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.	ORPHA:2457|UMLS:CN118835|UMLS:C0432291
MONDO:0016585	obsolete mansonelliasis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016585		
MONDO:0016586	systemic mastocytosis	biolink:Disease	mondo	ICD10:C96.2|ONCOTREE:SM|GARD:0008616|SCTID:397016004|MedDRA:10042949|NCIT:C9235|UMLS:C0221013|Orphanet:2467|DOID:349	ordo_group_of_disorders	SMCD - systemic mast cell disease|Mast cell disease|systemic tissue Mast cell disease|systemic mastocytosis, NOS|Agressive systemic mastocytosis|systemic tissue mast cell disease|systemic mastocytosis|systemic mastocytosis with associated hemotologic non-mast cell lineage disease (SM-AHNMD)|systemic mast cell disease|SM	http://purl.obolibrary.org/obo/MONDO_0016586	Systemic mastocytosis (SM) comprises a heterogeneous group of rare acquired and chronic hematological malignancies that are related to an abnormal proliferation of mast cells in tissue, including bone marrow, with or without skin involvement.	MESH:D034721|MEDDRA:10042949|ORPHA:2467|SNOMEDCT:397016004|NCIT:C9235|DOID:349|UMLS:C0221013
MONDO:0016587	arrhythmogenic right ventricular cardiomyopathy	biolink:Disease	mondo	ICD10:I42.8|SCTID:281170005|MedDRA:10058093|NCIT:C84571|UMLS:CN221565|GARD:0005847|Orphanet:247|DOID:0050431|ICD9:425.4|UMLS:CN239850|MESH:D019571|UMLS:C0349788	gard_rare|clingen|ordo_group_of_disorders	ARVC cardiomyopathy|right ventricular dysplasia|arrhythmogenic right ventricular dysplasia/cardiomyopathy|ARVC|arrhythmogenic right ventricular cardiomyopathy|arrhythmogenic right ventricular dysplasia|arrhythmogenic RVD|ARVD	http://purl.obolibrary.org/obo/MONDO_0016587	Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death.	UMLS:CN221565|NCIT:C84571|SNOMEDCT:281170005|UMLS:CN239850|ORPHA:247|DOID:0050431|MEDDRA:10058093|MESH:D019571|UMLS:C0349788
MONDO:0016580	congenital pulmonary airway malformation	biolink:Disease	mondo	NCIT:C98892|Orphanet:2444|SCTID:111318005|GARD:0006232|ICD10:Q33.0|MESH:D015615	ordo_malformation_syndrome	congenital cystic adenomatous malformation of the lung|congenital cystic adenomatoid malformation of lung|congenital cystic disease of the lung|congenital cystic adenomatoid malformation|CCAM|CPAM|cystic adenomatoid malformation of lung|congenital cystic adenomatoid malformation of the lung	http://purl.obolibrary.org/obo/MONDO_0016580	An abnormality in lung development that is characterized by a multicystic mass resulting from an adenomatous overgrowth of the terminal bronchioles with a consequent reduction of pulmonary alveoli. This anomaly is classified into three types by the cyst size.	MESH:D015615|ORPHA:2444|SNOMEDCT:111318005|NCIT:C98892
MONDO:0016581	conotruncal heart malformations	biolink:Disease	mondo	GARD:0008189|SCTID:218728005|Orphanet:2445|ICD9:747.11|UMLS:C1857586|OMIM:217095	ordo_group_of_disorders	conotruncal heart malformations; CTHM|Double-outlet right ventricle|CTHM|conotruncal anomaly face syndrome|interrupted aortic Arch|truncus arteriosus communis|Taussig-Bing syndrome or defect|persistent truncus arteriosus|conotruncal heart malformations|conotruncal cardiac defects	http://purl.obolibrary.org/obo/MONDO_0016581	Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome. A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).	ORPHA:2445|UMLS:C1857586|SNOMEDCT:218728005|http://identifiers.org/omim/217095
GO:0033089	positive regulation of T cell differentiation in thymus	biolink:OntologyClass	mondo			positive regulation of T cell development in thymus|positive regulation of thymocyte differentiation|positive regulation of thymic T cell differentiation|positive regulation of thymocyte cell differentiation	http://purl.obolibrary.org/obo/GO_0033089	Any process that activates or increases the frequency, rate or extent of T cell differentiation in the thymus.	
MONDO:0016582	congenital mitral malformation	biolink:Disease	mondo	Orphanet:2447|GARD:0001495	gard_rare|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016582		ORPHA:2447
MONDO:0016583	familial intestinal malrotation-facial anomalies syndrome	biolink:Disease	mondo	Orphanet:2454|GARD:0005000|ICD10:Q43.3	ordo_malformation_syndrome	Stalker-Chitayat syndrome|Stalker Chitayat syndrome|intestinal malrotation facial anomalies familial type	http://purl.obolibrary.org/obo/MONDO_0016583		ORPHA:2454
GO:0045087	innate immune response	biolink:OntologyClass	mondo			nonspecific immune response|innate immunity	http://purl.obolibrary.org/obo/GO_0045087	Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.	
GO:0045088	regulation of innate immune response	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0045088	Any process that modulates the frequency, rate or extent of the innate immune response, the organism's first line of defense against infection.	
GO:0045089	positive regulation of innate immune response	biolink:OntologyClass	mondo			stimulation of innate immune response|up-regulation of innate immune response|upregulation of innate immune response|up regulation of innate immune response	http://purl.obolibrary.org/obo/GO_0045089	Any process that activates or increases the frequency, rate or extent of the innate immune response, the organism's first line of defense against infection.	
MONDO:0016577	biliary atresia with splenic malformation syndrome	biolink:Disease	mondo	Orphanet:244283|ICD10:Q44.2|UMLS:CN201730|UMLS:C4274029|SCTID:717156002	ordo_malformation_syndrome	BASM syndrome	http://purl.obolibrary.org/obo/MONDO_0016577	Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen.	UMLS:C4274029|SNOMEDCT:717156002|ORPHA:244283|UMLS:CN201730
MONDO:0016578	mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	biolink:Disease	mondo	UMLS:CN201731|Orphanet:2443	ordo_group_of_disorders	mitochondrial oxidative phosphorylation disorder due to nDNA anomalies|OXPHOS disease due to nDNA anomalies|OXPHOS disease due to nuclear DNA anomalies	http://purl.obolibrary.org/obo/MONDO_0016578	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis.	ORPHA:2443|UMLS:CN201731
MONDO:0016579	dominant hypophosphatemia with nephrolithiasis or osteoporosis	biolink:Disease	mondo	Orphanet:244305|UMLS:CN228623	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016579		ORPHA:244305|UMLS:CN228623
NCBITaxon:513040	Dioctophymatidae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_513040		
MONDO:0016573	acute fatty liver of pregnancy	biolink:Disease	mondo	MESH:C537957|SCTID:716379000|UMLS:C1455728|Orphanet:243367|ICD10:O26.6|MedDRA:10000746|GARD:0009578	gard_rare|ordo_disease	AFLP|acute fatty liver, gestational	http://purl.obolibrary.org/obo/MONDO_0016573	Acute fatty liver of pregnancy is a rare but severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy.	SNOMEDCT:716379000|UMLS:C1455728|MEDDRA:10000746|ORPHA:243367|MESH:C537957
HGNC:16466	SUFU	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16466		
MONDO:0016574	hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome	biolink:Disease	mondo	Orphanet:2435|SCTID:733469003|MESH:C537836|GARD:0003347|UMLS:C1835172	gard_rare|ordo_disease	hereditary congenital hypopigmented and hyperpigmented macules|macules hereditary congenital hypopigmented and hyperpigmented|Westerhof-Beemer-Cormane syndrome|congenital hypomelanotic and hypermelanotic macules|macules, hereditary congenital hypopigmented and hyperpigmented|Westerhof Beemer Cormane syndrome	http://purl.obolibrary.org/obo/MONDO_0016574	Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a neurocutaneous syndrome characterised by congenital hypomelanotic and hypermelanotic cutaneous macules. It has been described in individuals spanning three generations of an Indian family. Some of the patients also had retarded growth and intellectual deficit.	ORPHA:2435|MESH:C537836|SNOMEDCT:733469003|UMLS:C1835172
NCBITaxon:513042	Dioctophyme	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_513042		
MONDO:0016575	primary ciliary dyskinesia	biolink:Disease	mondo	MESH:D007619|SCTID:86204009|MedDRA:10069713|MESH:D002925|DOID:9562|UMLS:C0008780|ICD10:Q34.8|SCTID:42402006|Orphanet:244|GARD:0006815|DOID:0050144|OMIMPS:244400|GARD:0004484|NCIT:C84797	ordo_disease	PCD|Immotile cilia syndrome, Kartagener type|Primary ciliary dyskinesia, Kartagener type|Kartagener syndrome|ciliary dyskinesia primary|Primary ciliary dyskinesia and situs inversus|Dextrocardia bronchiectasis and sinusitis|ciliary motility disorder|Kartagener's syndrome|bronchiectasis, chronic sinusitis and dextrocardia syndrome|Dextrocardia-bronchiectasis-sinusitis syndrome|immotile ciliary syndrome|Siewert syndrome|kartageners syndrome|ICS	http://purl.obolibrary.org/obo/MONDO_0016575	Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).	MEDDRA:10069713|DOID:9562|NCIT:C84638|SNOMEDCT:42402006|NCIT:C84797|MESH:D002925|SNOMEDCT:86204009|DOID:0050144|ORPHA:244|UMLS:C0008780|MESH:D007619
NCBITaxon:513045	Dioctophyme renale	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_513045		
MONDO:0016576	split hand-foot malformation	biolink:Disease	mondo	SCTID:81208006|GARD:0006319|ICD10:Q72.7|ICD10:Q71.6|OMIMPS:183600|NCIT:C75000|UMLS:C0265554|Orphanet:2440|DOID:0090020	ordo_malformation_syndrome	split-hand deformity|FEWER digits|split hand-split foot malformation|SHFM|split-hand/foot malformation|ectrodactyly|lobster-claw deformity|split hand foot malformation|isolated split hand-split foot malformation	http://purl.obolibrary.org/obo/MONDO_0016576	Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported.	ORPHA:2440|NCIT:C75000|UMLS:C0265554|SNOMEDCT:81208006|DOID:0090020
UBERON:0037191	wall of membranous labyrinth	biolink:AnatomicalEntity	mondo			membranous labyrinth wall	http://purl.obolibrary.org/obo/UBERON_0037191		
MONDO:0016570	primary pulmonary lymphoma	biolink:Disease	mondo	UMLS:C0519063|ICD10:C85.7|SCTID:718200007|UMLS:C4273669|Orphanet:2420|MedDRA:10037418	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016570	Primary pulmonary lymphoma (PPL) is a rare lymphoma of the lung, defined as a clonal lymphoid proliferation affecting one or both lungs (parenchyma and/or bronchi) in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. PPL comprises low grade/indolent B cell PPL forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell PPL (including diffuse large B cell lymphoma) and lymphomatoid granulomatosis (LYG).	MEDDRA:10037418|ORPHA:2420|UMLS:C4273669|UMLS:C0519063|SNOMEDCT:718200007
GO:0033077	T cell differentiation in thymus	biolink:OntologyClass	mondo			thymic T cell differentiation|thymocyte cell differentiation|T cell development in thymus|thymocyte differentiation	http://purl.obolibrary.org/obo/GO_0033077	The process in which a precursor cell type acquires the specialized features of a T cell via a differentiation pathway dependent upon transit through the thymus.	
MONDO:0016571	macrocephaly-short stature-paraplegia syndrome	biolink:Disease	mondo	SCTID:722033000|MESH:C537718|Orphanet:2427	ordo_malformation_syndrome	Volcke-Soekarman syndrome	http://purl.obolibrary.org/obo/MONDO_0016571	Macrocephaly-short stature-paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults.	ORPHA:2427|SNOMEDCT:722033000|MESH:C537718
MONDO:0016572	central bilateral macrogyria	biolink:Disease	mondo	ICD10:Q04.8|SCTID:720632004|UMLS:C4303949|Orphanet:2431	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016572	Central bilateral macrogyria is a neuronal migration disorder characterised by pseudobulbar palsy, developmental delay, mild mental retardation and epilepsy. It has been described in at least four children.	ORPHA:2431|UMLS:C4303949|SNOMEDCT:720632004
MONDO:0004577	corneal ulcer	biolink:Disease	mondo	MESH:D003320|NCIT:C50515|ICD9:370.0|DOID:8463|ICD10:H16.00|UMLS:C0010043|ICD9:370.00|ICD10:H16.0|HP:0200020|SCTID:91514001|COHD:373202		Ulcer, corneal|cornea ulcer disease|ulcer disease of cornea	http://purl.obolibrary.org/obo/MONDO_0004577	Area of epithelial tissue loss from corneal surface; associated with inflammatory cells in the cornea and anterior chamber.	SNOMEDCT:91514001|DOID:8463|MESH:D003320|NCIT:C50515|UMLS:C0010043
UBERON:0013191	ovarian cortex	biolink:AnatomicalEntity	mondo			cortex ovarii (zona parenchymatosa)|cortex of ovary	http://purl.obolibrary.org/obo/UBERON_0013191	the layer of the ovarian stroma lying immediately beneath the tunica albuginea, composed of connective tissue cells and fibers, among which are scattered primary and secondary (antral) follicles in various stages of development; the cortex varies in thickness according to the age of the individual, becoming thinner with advancing years; included in the follicles are the cumulus oophorus, membrana granulosa (and the granulosa cells inside it), corona radiata, zona pellucida, and primary oocyte; the zona pellucida, theca of follicle, antrum and liquor folliculi are also contained in the follicle; also in the cortex is the corpus luteum derived from the follicles.	
MONDO:0004576	obsolete pellagra	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004576		
UBERON:0013192	ovarian medulla	biolink:AnatomicalEntity	mondo			medulla of ovary|medulla ovarii (zona vasculosa)|zona vasculosa of Waldeyer	http://purl.obolibrary.org/obo/UBERON_0013192	highly vascular stroma found in the center of the ovary that forms from embryonic mesenchyme and contains blood vessels, lymphatic vessels, and nerves; this stroma forms the tissue of the hilum by which the ovarian ligament is attached, and through which the blood vessels enter; it does not contain any ovarian follicles.	
MONDO:0004579	retinoschisis	biolink:Disease	mondo	COHD:381282|UMLS:C0152439|ICD10:H33.10|DOID:8465|SCTID:44268007|NCIT:C85046|MESH:D041441|ICD9:361.10			http://purl.obolibrary.org/obo/MONDO_0004579	An inherited or acquired disorder characterized by splitting of the retina into two layers. It results in loss of vision.	NCIT:C85046|DOID:8465|UMLS:C0152439|SNOMEDCT:44268007|MESH:D041441
MONDO:0004578	flat retinoschisis	biolink:Disease	mondo	DOID:8464|SCTID:83405000|ICD9:361.11|UMLS:C0154817			http://purl.obolibrary.org/obo/MONDO_0004578		SNOMEDCT:83405000|UMLS:C0154817|DOID:8464
MONDO:0004573	ariboflavinosis	biolink:Disease	mondo	DOID:8454|SCTID:20307000|ICD10:E53.0|COHD:432580|ICD9:266.0		vitamin B2 deficiency	http://purl.obolibrary.org/obo/MONDO_0004573	A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-colored tongue that may show fissures, corneal vascularization, dyssebacia, and anemia. (Dorland, 27th ed)	DOID:8454|SNOMEDCT:20307000
MONDO:0004572	cyclothymic disorder	biolink:Disease	mondo	ICD9:301.1|ICD9:301.13|ICD10:F34.0|ICD9:301.10|COHD:440696|DOID:845|MESH:D003527|SCTID:76105009		affective personality disorder|cycloid personality|cyclothymic personality|cyclothymia	http://purl.obolibrary.org/obo/MONDO_0004572	An affective disorder characterized by periods of depression and hypomania. These may be separated by periods of normal mood.	MESH:D003527|DOID:845|SNOMEDCT:76105009
MONDO:0004575	choline deficiency disease	biolink:Disease	mondo	DOID:8456|SCTID:238113006|ICD9:266.2|MESH:D002796|UMLS:C0008412		choline deficiency	http://purl.obolibrary.org/obo/MONDO_0004575	A condition produced by a deficiency of choline in animals. Choline is known as a lipotropic agent because it has been shown to promote the transport of excess fat from the liver under certain conditions in laboratory animals. Combined deficiency of choline (included in the B vitamin complex) and all other methyl group donors causes liver cirrhosis in some animals. Unlike compounds normally considered as vitamins, choline does not serve as a cofactor in enzymatic reactions. (From Saunders Dictionary & Encyclopedia of Laboratory Medicine and Technology, 1984)	SNOMEDCT:238113006|DOID:8456|MESH:D002796|UMLS:C0008412
MONDO:0004574	pyridoxine deficiency anemia	biolink:Disease	mondo	MESH:D026681|DOID:8455|ICD10:E53.1|NCIT:C85221|ICD9:281.8|GARD:0004616|ICD9:266.1|SCTID:86448001	gard_rare	deficiency, pyridoxine|deficiency, vitamin B6|deficiency, vitamin B 6|vitamin deficiencies, B6|deficiencies, vitamin B6|vitamin B6 deficiency syndrome|B6 deficiencies, vitamin|vitamin B6 deficiency|pyridoxine Deficincy|B6 deficiency, vitamin|pyridoxine deficiency|vitamin B6 deficiencies|deficiency, B6 vitamin|B6 vitamin deficiency|B6 vitamin deficiencies|vitamin deficiency, B6|deficiencies, B6 vitamin	http://purl.obolibrary.org/obo/MONDO_0004574	Deficiency of vitamin B6. It is usually caused by alcoholism, malabsorption, or as a side effect of medications. Signs and symptoms include stomatitis, glossitis, dermatitis, peripheral neuropathy, irritability, seizures, and anemia.	NCIT:C85221|SNOMEDCT:86448001|DOID:8455|MESH:D026681
MONDO:0004571	intestinal impaction	biolink:Disease	mondo	ICD9:560.30|ICD10:K56.49|SCTID:62851005|ICD10:K56.4|DOID:8448|ICD9:560.39			http://purl.obolibrary.org/obo/MONDO_0004571		DOID:8448|SNOMEDCT:62851005
MONDO:0004570	intestinal volvulus	biolink:Disease	mondo	EFO:1000989|ICD10:K56.2|UMLS:C0042961|MESH:D045822|COHD:197603|SCTID:9707006|ICD9:560.2|DOID:8445		intestinal volvulus|volvulus|twist of intestine, bowel, or colon	http://purl.obolibrary.org/obo/MONDO_0004570	Twisting of a loop of bowel that results in intestinal obstruction.	NCIT:C98963|DOID:8445|SNOMEDCT:9707006|MESH:D045822|UMLS:C0042961
MONDO:0016566	loiasis	biolink:Disease	mondo	UMLS:C0023968|MedDRA:10024797|GARD:0003283|MESH:D008118|Orphanet:2404|NCIT:C34784|SCTID:44250009|ICD10:B74.3|ICD9:125.2|DOID:13523|EFO:1000729	gard_rare|ordo_disease	Loa loa filariasis|African eye worm	http://purl.obolibrary.org/obo/MONDO_0016566	Loiasis is a form of filariasis (see this term), caused by the parasitic worm Loa loa, endemic to the forest and savannah regions of Central and Western Africa. Loiasis may either be asymptomatic or manifest as a large, transient area of localized, non-erythematous subcutaneous edema (Calabar swellings), adult worm migration through the sub-conjunctiva (''African eye worm'') and pruritus. Generalized itching, hives, muscle pains, arthralgias, fatigue, and adult worms visibly migrating under the surface of the skin may be observed. Severe complications such as encephalopathy have been reported in highly infected individuals receiving ivermectin during mass drug administration programs for the control of onchocerciasis and lymphatic filariasis.	UMLS:C0023968|SNOMEDCT:44250009|ORPHA:2404|MEDDRA:10024797|MESH:D008118|NCIT:C34784|DOID:13523
MONDO:0016567	locked-in syndrome	biolink:Disease	mondo	ICD10:G83.5|DOID:12697|SCTID:38023001|GARD:0006919|ICD9:344.81|Orphanet:2406|ICD10:G83.8|MedDRA:10024792|COHD:434644	gard_rare|ordo_disease	Cerebromedullospinal disconnection|locked in syndrome|locked-in state	http://purl.obolibrary.org/obo/MONDO_0016567	Locked-in syndrome (LIS) is a neurological condition characterized by the presence of sustained eye opening, quadriplegia or quadriparesis, anarthria, preserved cognitive functioning and a primary code of communication that uses vertical eye movements or blinking.	DOID:12697|UMLS:C0023944|SNOMEDCT:38023001|ORPHA:2406|MEDDRA:10024792
MONDO:0016568	Lowe-Kohn-Cohen syndrome	biolink:Disease	mondo	GARD:0001695|UMLS:C2931080|Orphanet:2408|SCTID:766249007|ICD10:Q87.8|MESH:C535996	gard_rare|ordo_malformation_syndrome	deafness nephritis anorectal malformation|Lowe Kohn Cohen syndrome|deafness-nephritis-ano-rectal malformation syndrome|deafness - nephritis - ano-rectal malformation|dominant ano-rectal malformation, nephritis and nerve-deafness	http://purl.obolibrary.org/obo/MONDO_0016568	Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983.	MESH:C535996|UMLS:C2931080|SNOMEDCT:766249007|ORPHA:2408
MONDO:0016569	obsolete rare lymphatic malformation	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016569		
HGNC:16438	SLC4A11	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16438		
MONDO:0016562	progressive supranuclear palsy-pure akinesia with gait freezing syndrome	biolink:Disease	mondo	Orphanet:240094|ICD10:G23.1|UMLS:CN226961	ordo_clinical_subtype	PSP-pure akinesia with gait freezing|PSP-PAGF	http://purl.obolibrary.org/obo/MONDO_0016562	PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease.	UMLS:CN226961|ORPHA:240094
MONDO:0016563	progressive supranuclear palsy-corticobasal syndrome	biolink:Disease	mondo	ICD10:G23.1|Orphanet:240103|UMLS:CN201681	ordo_clinical_subtype	PSP-corticobasal syndrome|PSP-CBS	http://purl.obolibrary.org/obo/MONDO_0016563	PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease.	UMLS:CN201681|ORPHA:240103
MONDO:0016564	progressive supranuclear palsy-progressive non-fluent aphasia syndrome	biolink:Disease	mondo	ICD10:G23.1|Orphanet:240112|UMLS:CN226962	ordo_clinical_subtype	PSP-PNFA|PSP-AOS|progressive supranuclear palsy-apraxia of speech syndrome	http://purl.obolibrary.org/obo/MONDO_0016564	PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP.	UMLS:CN226962|ORPHA:240112
MONDO:0016565	syndromic genetic obesity	biolink:Disease	mondo	UMLS:CN226963|Orphanet:240371	ordo_group_of_disorders	syndrome associated with obesity (disease)|syndrome associated with obesity (disease)|syndromic obesity (disease)	http://purl.obolibrary.org/obo/MONDO_0016565		UMLS:CN226963|ORPHA:240371
MONDO:0016560	ptosis-syndactyly-learning difficulties syndrome	biolink:Disease	mondo	UMLS:CN201643|Orphanet:238766	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0016560		UMLS:CN201643|ORPHA:238766
MONDO:0016561	1q44 microdeletion syndrome	biolink:Disease	mondo	SCTID:719649004|GARD:0010943|UMLS:CN201644|ICD10:Q93.5|Orphanet:238769|UMLS:C4304540	ordo_malformation_syndrome|gard_rare	chromosome 1q44 microdeletion syndrome|Del(1)(q44)|monosomy 1q44	http://purl.obolibrary.org/obo/MONDO_0016561	1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.	UMLS:CN201644|UMLS:C4304540|ORPHA:238769|SNOMEDCT:719649004
MONDO:0004588	night blindness	biolink:Disease	mondo	DOID:8499|UMLS:C0028077|ICD10:H53.6|ICD10:H53.60|ICD9:368.60|ICD9:368.6|NCIT:C34850|ICD9:368.69|COHD:374037|MESH:D009755|SCTID:65194006		nyctalopia	http://purl.obolibrary.org/obo/MONDO_0004588	Inability to see clearly in dim light.	DOID:8499|UMLS:C0028077|SNOMEDCT:65194006|NCIT:C37997|MESH:D009755|NCIT:C34850
NCBITaxon:11974	Caliciviridae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_11974		
MONDO:0004587	hereditary night blindness	biolink:Disease	mondo	DOID:8498|ICD10:H53.63|SCTID:193687000|ICD9:368.61		Oguchi's disease|congenital night blindness|hereditary night blindness	http://purl.obolibrary.org/obo/MONDO_0004587	An instance of night blindness that is caused by an inherited modification of the individual's genome.	DOID:8498|SNOMEDCT:193687000
MONDO:0004589	obsolete hereditary retinal dystrophy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004589		
MONDO:0004584	maple bark strippers' lung	biolink:Disease	mondo	ICD10:J67.6|DOID:8484|ICD9:495.6|UMLS:C0155890|SCTID:86638007		maple bark disease|maple bark stripper's disease|alveolitis due to cryptostroma corticale|maple-bark strippers' lung|maple bark-strippers' lung|maple bark stripper's lung	http://purl.obolibrary.org/obo/MONDO_0004584		UMLS:C0155890|DOID:8484|SNOMEDCT:86638007
HGNC:28422	TSEN2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28422		
MONDO:0004583	transient retinal arterial occlusion	biolink:Disease	mondo	ICD9:362.34|COHD:433195|NCIT:C35193|DOID:8482|UMLS:C0154840|ICD10:H34.0|SCTID:87224000		transient retinal arterial occlusion|transient arterial retinal occlusion|retinal transient arterial occlusion	http://purl.obolibrary.org/obo/MONDO_0004583	A partial, temporary occlusion of the retinal artery.	UMLS:C0154840|DOID:8482|SNOMEDCT:87224000|NCIT:C35193
HGNC:28423	STAC3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28423		
MONDO:0004586	rheumatoid lung disease	biolink:Disease	mondo	COHD:256197|ICD9:714.81|DOID:849|SCTID:398726004|UMLS:C0994344		rheumatoid lung	http://purl.obolibrary.org/obo/MONDO_0004586	Rheumatoid lung disease is a group of lung problems related to rheumatoid arthritis.	UMLS:C0994344|SNOMEDCT:398726004|DOID:849
MONDO:0004585	polyhydramnios (disease)	biolink:Disease	mondo	DOID:8488|HP:0001561|ICD9:657.0|ICD9:657.00|SCTID:86203003|MESH:D006831|ICD9:657|ICD10:O40		polyhydramnios	http://purl.obolibrary.org/obo/MONDO_0004585	An excess quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of greater than or equal to 25 cm or a single maximum vertical pocket (MVP) of greater than 8 cm.	MESH:D006831|DOID:8488|SNOMEDCT:86203003|NCIT:C92848
MONDO:0004580	retinal degeneration	biolink:Disease	mondo	SCTID:95695004|MESH:D012162|NCIT:C34979|DOID:8466		retina degeneration|retina, Degeneration Of|degeneration of retina	http://purl.obolibrary.org/obo/MONDO_0004580	Degeneration of the retina.	DOID:8466|MESH:D012162|NCIT:C34979|SNOMEDCT:95695004
MONDO:0004582	rheumatic myocarditis	biolink:Disease	mondo	UMLS:C0155557|ICD9:391.9|SCTID:195136004|DOID:8481|NCIT:C35202|ICD9:398.0|COHD:320743|ICD10:M05.3|ICD10:I01.9|ICD10:I09.0		active rheumatic fever with myocarditis|acute rheumatic myocarditis (disorder) [ambiguous]|acute rheumatic carditis|acute rheumatic myocarditis|rheumatic degeneration of myocardium|rheumatic fever with myocarditis|rheumatoid myocarditis|rheumatic myocarditis	http://purl.obolibrary.org/obo/MONDO_0004582	Inflammation of the myocardium in acute rheumatic heart disease.	DOID:8481|SNOMEDCT:195136004|NCIT:C35202|UMLS:C0155557
MONDO:0004581	obsolete localized scleroderma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004581		
MONDO:0016559	glaucoma secondary to spherophakia/ectopia lentis and megalocornea	biolink:Disease	mondo	Orphanet:238763|ICD10:Q15.8|GARD:0010942|UMLS:CN201642	ordo_malformation_syndrome	megalocornea-spherophakia-secondary glaucoma syndrome	http://purl.obolibrary.org/obo/MONDO_0016559	Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate.	ORPHA:238763|UMLS:CN201642
MONDO:0016555	transient congenital hypothyroidism due to maternal factor	biolink:Disease	mondo	Orphanet:238696|ICD10:P72.2	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016555		ORPHA:238696
MONDO:0016556	transient congenital hypothyroidism due to neonatal factor	biolink:Disease	mondo	Orphanet:238699|ICD10:P72.2	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016556		ORPHA:238699
MONDO:0016557	leukonychia totalis	biolink:Disease	mondo	Orphanet:2387|SCTID:763792009|ICD10:Q84.4|MESH:C535889|GARD:0009759	ordo_disease	hereditary white nails|total leukonychia	http://purl.obolibrary.org/obo/MONDO_0016557	Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present.	MESH:C535889|SNOMEDCT:763792009|UMLS:C0544855|ORPHA:2387
MONDO:0016558	familial congenital mirror movements	biolink:Disease	mondo	OMIMPS:157600|SCTID:229247004|Orphanet:238722|DOID:0111153|GARD:0012551|DC:0000563	ordo_disease	bimanual synkinesis|isolated congenital controlateral synkinesia|hereditary congenital controlateral synkinesia|congenital mirror movements|hereditary congenital mirror movements|isolated congenital mirror movements|congenital mirror movement disorder|CMM|familial congenital mirror movements|familial congenital controlateral synkinesia	http://purl.obolibrary.org/obo/MONDO_0016558	Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected.	SNOMEDCT:229247004|DOID:0111153|ORPHA:238722
MONDO:0016551	congenital primary megaureter, refluxing form	biolink:Disease	mondo	ICD10:Q62.2|Orphanet:238650	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0016551		ORPHA:238650
MONDO:0016552	congenital primary megaureter, nonrefluxing and unobstructed form	biolink:Disease	mondo	Orphanet:238654|ICD10:Q62.2	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0016552		ORPHA:238654
MONDO:0016553	isolated congenital hypogonadotropic hypogonadism	biolink:Disease	mondo	Orphanet:238666|UMLS:CN924907|ICD10:E23.0	ordo_group_of_disorders	nonsyndromic congenital hypogonadotropic hypogonadism	http://purl.obolibrary.org/obo/MONDO_0016553	A congenital hypogonadotropic hypogonadism that is not part of a larger syndrome.	UMLS:CN924907|ORPHA:238666
GO:0033059	cellular pigmentation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0033059	The deposition or aggregation of coloring matter in a cell.	
HGNC:16446	CARD14	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16446		
MONDO:0016554	neonatal iodine exposure	biolink:Disease	mondo	Orphanet:238688|ICD10:P72.2|UMLS:CN226956|GARD:0003025	ordo_disease	iodine antenatal exposure	http://purl.obolibrary.org/obo/MONDO_0016554	Neonatal iodine exposure is a rare endocrine disease characterized by the appearance of transient hypothyroidism, usually in preterm newborns, following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid funtion in term neonates.	UMLS:CN226956|ORPHA:238688
MONDO:0016550	congenital primary megaureter, obstructed form	biolink:Disease	mondo	ICD10:Q62.2|Orphanet:238646	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0016550		ORPHA:238646
GO:0070075	tear secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0070075	The regulated release of the aqueous layer of the tear film from the lacrimal glands. Tears are the liquid product of a process of lacrimation to clean and lubricate the eyes. Tear fluid contains water, mucin, lipids, lysozyme, lactoferrin, lipocalin, lacritin, immunoglobulins, glucose, urea, sodium, and potassium.	
UBERON:0037144	wall of heart	biolink:AnatomicalEntity	mondo			cardiac wall	http://purl.obolibrary.org/obo/UBERON_0037144	wall of organ which has as its parts the endocardium, myocardium , epicardium, and the cardiac septum, surrounded by the pericardial sac proper and is continuous with the walls of the systemic and pulmonary arterial and venous trees.	
GO:0033048	negative regulation of mitotic sister chromatid segregation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0033048	Any process that stops, prevents, or reduces the frequency, rate or extent of sister chromatid segregation during mitosis.	
GO:0033047	regulation of mitotic sister chromatid segregation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0033047	Any process that modulates the frequency, rate or extent of sister chromatid segregation during mitosis.	
HGNC:16412	NLRC4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16412		
GO:0033046	negative regulation of sister chromatid segregation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0033046	Any process that stops, prevents, or reduces the frequency, rate or extent of sister chromatid segregation.	
GO:0033045	regulation of sister chromatid segregation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0033045	Any process that modulates the frequency, rate or extent of sister chromatid segregation.	
GO:0033044	regulation of chromosome organization	biolink:OntologyClass	mondo			regulation of chromosome organisation|regulation of chromosome organization and biogenesis	http://purl.obolibrary.org/obo/GO_0033044	Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a chromosome.	
GO:0033043	regulation of organelle organization	biolink:OntologyClass	mondo			regulation of organelle organization and biogenesis|regulation of organelle organisation	http://purl.obolibrary.org/obo/GO_0033043	Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of an organelle.	
HGNC:28403	TRMT10A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28403		
HGNC:16429	LIAS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16429		
GO:0033036	macromolecule localization	biolink:OntologyClass	mondo			macromolecule localisation	http://purl.obolibrary.org/obo/GO_0033036	Any process in which a macromolecule is transported to, or maintained in, a specific location.	
GO:0070069	cytochrome complex	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0070069	A protein complex in which at least one of the proteins is a cytochrome, i.e. a heme-containing protein involved in catalysis of redox reactions.	
GO:0070093	negative regulation of glucagon secretion	biolink:OntologyClass	mondo			down-regulation of glucagon secretion|downregulation of glucagon secretion|down regulation of glucagon secretion|inhibition of glucagon secretion	http://purl.obolibrary.org/obo/GO_0070093	Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of glucagon.	
GO:0070094	positive regulation of glucagon secretion	biolink:OntologyClass	mondo			upregulation of glucagon secretion|stimulation of glucagon secretion|up regulation of glucagon secretion|activation of glucagon secretion|up-regulation of glucagon secretion	http://purl.obolibrary.org/obo/GO_0070094	Any process that activates or increases the frequency, rate or extent of the regulated release of glucagon.	
GO:0070091	glucagon secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0070091	The regulated release of glucagon from secretory granules in the A (alpha) cells of the pancreas (islets of Langerhans).	
GO:0070092	regulation of glucagon secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0070092	Any process that modulates the frequency, rate or extent of the regulated release of glucagon.	
GO:0008066	glutamate receptor activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0008066	Combining with glutamate and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity.	
NCBITaxon:33317	Protostomia	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_33317		
CHEBI:131699	EC 2.7.7.7 (DNA-directed DNA polymerase) inhibitor	biolink:ChemicalSubstance	mondo			DNA polymerase gamma inhibitor|Taq Pol I inhibitors|Taq DNA polymerase inhibitors|DNA nucleotidyltransferase (DNA-directed) inhibitors|DNA-dependent DNA polymerase inhibitor|sequenase inhibitor|deoxyribonucleic acid polymerase inhibitor|EC 2.7.7.7 inhibitors|Tca DNA polymerase inhibitors|EC 2.7.7.7 (DNA-directed DNA polymerase) inhibitors|DNA duplicase inhibitor|duplicase inhibitors|DNA polymerase alpha inhibitors|deoxyribonucleic polymerase I inhibitor|DNA polymerase II inhibitor|DNA polymerase beta inhibitor|deoxyribonucleic acid duplicase inhibitors|Klenow fragment inhibitors|DNA replicase inhibitor|DNA polymerase inhibitors|deoxyribonucleate nucleotidyltransferase inhibitor|deoxyribonucleate nucleotidyltransferase inhibitors|DNA replicase inhibitors|Klenow fragment inhibitor|DNA polymerase inhibitor|DNA polymerase beta inhibitors|deoxyribonucleic acid duplicase inhibitor|DNA polymerase II inhibitors|deoxyribonucleic polymerase I inhibitors|DNA duplicase inhibitors|Tca DNA polymerase inhibitor|DNA polymerase alpha inhibitor|duplicase inhibitor|EC 2.7.7.7 inhibitor|sequenase inhibitors|deoxyribonucleic acid polymerase inhibitors|DNA-dependent DNA polymerase inhibitors|Taq DNA polymerase inhibitor|DNA polymerase gamma inhibitors|Taq Pol I inhibitor|DNA nucleotidyltransferase (DNA-directed) inhibitor|DNA nucleotidyltransferase inhibitor|deoxynucleate polymerase inhibitor|deoxyribonucleic polymerase inhibitor|DNA-directed DNA polymerase (EC 2.7.7.7) inhibitors|DNA polymerase III inhibitors|deoxyribonucleic duplicase inhibitor|DNA polymerase I inhibitors|deoxynucleoside-triphosphate:DNA deoxynucleotidyltransferase (DNA-directed) inhibitors|DNA polymerase I inhibitor|deoxyribonucleic duplicase inhibitors|deoxynucleoside-triphosphate:DNA deoxynucleotidyltransferase (DNA-directed) inhibitor|DNA polymerase III inhibitor|deoxyribonucleic polymerase inhibitors|DNA nucleotidyltransferase inhibitors|DNA-directed DNA polymerase (EC 2.7.7.7) inhibitor|deoxynucleate polymerase inhibitors	http://purl.obolibrary.org/obo/CHEBI_131699	A DNA polymerase inhibitor that interferes with the action of a DNA-directed DNA polymerase (EC 2.7.7.7).	
GO:0070085	glycosylation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0070085	The covalent attachment and further modification of carbohydrate residues to a substrate molecule.	
MONDO:0016590	obsolete collecting duct carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016590		
GO:0104004	cellular response to environmental stimulus	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0104004	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an environmental stimulus.	
MONDO:0041526	pregnancy disorder with abortive outcome	biolink:Disease	mondo	SCTID:363681007|ICD10:O00.O08		pregnancy with abortive outcome	http://purl.obolibrary.org/obo/MONDO_0041526		SNOMEDCT:363681007
MONDO:0016599	autosomal dominant secondary polycythemia	biolink:Disease	mondo	Orphanet:247511|UMLS:CN201790|ICD10:D75.1	ordo_disease	autosomal dominant secondary erythrocytosis|secondary polycythemia, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0016599	Autosomal dominant form of secondary polycythemia.	UMLS:CN201790|ORPHA:247511
HGNC:16404	IL17F	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16404		
HGNC:16406	EFHC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16406		
GO:0008080	N-acetyltransferase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0008080	Catalysis of the transfer of an acetyl group to a nitrogen atom on the acceptor molecule.	
MONDO:0016595	inhalational anthrax	biolink:Disease	mondo	DOID:0050160|UMLS:C0155866|ICD10:A22.1|Orphanet:247257|MESH:C571912|MedDRA:10035667|SCTID:11389007|ICD9:022.1	ordo_disease	woolsorters' disease|pulmonary anthrax|inhalation anthrax|respiratory anthrax disease|inhalation anthrax disease|wool-sorters' disease|respiratory anthrax	http://purl.obolibrary.org/obo/MONDO_0016595	A rare acute systemic infection caused by the inhalation of Bacillus anthracis spores (e.g. through infected animal products, bioterrorism) and characterized by an initial stage where patients present with non specific symptoms (fever, cough, chills, fatigue) that is followed by an acute phase during which hemorrhagic mediastinitis occurs that can progress into meningitis, gastrointestinal involvement, and refractory shock, that can be fatal, if left untreated.	SNOMEDCT:11389007|DOID:0050160|MESH:C571912|MEDDRA:10035667|ORPHA:247257|UMLS:C0155866
HGNC:16400	NLRP3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16400		
MONDO:0016596	hyperphosphatasia-intellectual disability syndrome	biolink:Disease	mondo	Orphanet:247262|OMIMPS:239300|SCTID:33982008|UMLS:C1855923	ordo_disease	HPMR|Mabry syndrome|hyperphosphatasia with intellectual disability syndrome|hyperphosphatasia with mental retardation syndrome	http://purl.obolibrary.org/obo/MONDO_0016596		SNOMEDCT:33982008|UMLS:C1855923|ORPHA:247262
MONDO:0016597	generalized pustular psoriasis	biolink:Disease	mondo	ICD9:696.1|SCTID:238612002|ICD10:L40.1|GARD:0012819|Orphanet:247353	ordo_disease	GPP	http://purl.obolibrary.org/obo/MONDO_0016597	Generalized pustular psoriasis is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis.	UMLS:C0343055|ORPHA:247353|SNOMEDCT:238612002
MONDO:0016598	autosomal recessive secondary polycythemia not associated with VHL gene	biolink:Disease	mondo	UMLS:CN226972|Orphanet:247378|ICD10:D75.1	ordo_disease	autosomal recessive secondary polycythemia, non-Chuvash type|autosomal recessive secondary erythrocytosis not associated with VHL gene|autosomal recessive secondary erythrocytosis, non-Chuvash type	http://purl.obolibrary.org/obo/MONDO_0016598		UMLS:CN226972|ORPHA:247378
MONDO:0016591	sporadic adult-onset ataxia of unknown etiology	biolink:Disease	mondo	Orphanet:247234|SCTID:734023003	ordo_disease	SAOA|idiopathic late-onset cerebellar ataxia	http://purl.obolibrary.org/obo/MONDO_0016591	Sporadic adult-onset ataxia of unknown etiology describes a group of non-hereditary degenerative ataxias characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported.	SNOMEDCT:734023003|ORPHA:247234
GO:0033013	tetrapyrrole metabolic process	biolink:OntologyClass	mondo			tetrapyrrole metabolism	http://purl.obolibrary.org/obo/GO_0033013	The chemical reactions and pathways involving tetrapyrroles, natural pigments containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next.	
MONDO:0016592	non-hereditary degenerative ataxia	biolink:Disease	mondo	Orphanet:247239	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016592		ORPHA:247239
MONDO:0016593	acquired ataxia	biolink:Disease	mondo	SCTID:722968003|Orphanet:247242	ordo_group_of_disorders	acquired cerebellar ataxia	http://purl.obolibrary.org/obo/MONDO_0016593	An instance of cerebellar ataxia that is acquired during the lifetime of the individual.	SNOMEDCT:722968003|ORPHA:247242
MONDO:0016594	superficial siderosis	biolink:Disease	mondo	GARD:0009484|ICD10:I69.0|Orphanet:247245	ordo_disease	hemosiderosis of the central nervous system|superficial hemosiderosis of the central nervous system|superficial siderosis of the CNS|superficial siderosis of the central nervous system|superficial hemosiderosis of the CNS	http://purl.obolibrary.org/obo/MONDO_0016594	Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria.	ORPHA:247245
MONDO:0004515	obsolete olfactory neural tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004515		
UBERON:0015791	digit connective tissue	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015791	A portion of connective tissue that is part of a digit.	
MONDO:0004514	chronic rhinitis	biolink:Disease	mondo	DOID:8252|COHD:259848|ICD9:472.0|NCIT:C34479|UMLS:C0008711|ICD10:J31.0|SCTID:86094006		rhinitis, chronic|rhinitis - chronic	http://purl.obolibrary.org/obo/MONDO_0004514	Chronic inflammation of the nasal cavity mucosa. It may lead to post-nasal drip resulting in chronic sore throat and chronic cough.	SNOMEDCT:86094006|NCIT:C34479|UMLS:C0008711|DOID:8252
UBERON:0015790	autopod skin	biolink:AnatomicalEntity	mondo			paw skin	http://purl.obolibrary.org/obo/UBERON_0015790	A zone of skin that is part of a autopod region.	
MONDO:0004517	ureter tuberculosis	biolink:Disease	mondo	ICD9:016.2|UMLS:C0152800|SCTID:81359005|DOID:827|ICD9:016.20		ureter tuberculosis|tuberculosis of ureter	http://purl.obolibrary.org/obo/MONDO_0004517	A tuberculosis that involves the ureter.	UMLS:C0152800|SNOMEDCT:81359005|DOID:827
MONDO:0004516	bulbomembranous urethral cancer	biolink:Disease	mondo	NCIT:C39869|UMLS:C1511339|DOID:8259		bulbomembranous urethral malignant neoplasm	http://purl.obolibrary.org/obo/MONDO_0004516		DOID:8259|UMLS:C1511339|NCIT:C39869
MONDO:0004511	lower clivus meningioma	biolink:Disease	mondo	NCIT:C5288|UMLS:C1334434|DOID:8239		meningioma of Lower clivus|meningioma of the lower clivus	http://purl.obolibrary.org/obo/MONDO_0004511	A meningioma that affects the lower clivus.	UMLS:C1334434|NCIT:C5288|DOID:8239
MONDO:0004510	inflammatory liposarcoma	biolink:Disease	mondo	NCIT:C6508|UMLS:C1370890|DOID:8233		inflammatory liposarcoma	http://purl.obolibrary.org/obo/MONDO_0004510	A rare morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum. It is characterized by the presence of a predominant inflammatory infiltrate composed of lymphoplasmacytic aggregates.	NCIT:C6508|UMLS:C1370890|DOID:8233
MONDO:0004513	adult pleomorphic rhabdomyosarcoma	biolink:Disease	mondo	ICDO:8901/3|DOID:8251|NCIT:C27369|UMLS:C1332211		pleomorphic rhabdomyosarcoma of adults|adult pleomorphic rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0004513	An aggressive rhabdomyosarcoma occurring in adults. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually in the lower extremities.	UMLS:C1332211|NCIT:C27369|DOID:8251
MONDO:0004512	meningeal melanomatosis	biolink:Disease	mondo	ICDO:8728/3|UMLS:C1266114|NCIT:C6891|DOID:8243		melanomatosis of meningeal cluster|meningeal melanomatosis|leptomeningeal melanomatosis|meningeal cluster melanomatosis|meningeal melanomatosis (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0004512	A meningeal melanoma with secondary diffuse meningeal spread. (WHO)	UMLS:C1266114|NCIT:C6891|DOID:8243
UBERON:0013136	vein of lip	biolink:AnatomicalEntity	mondo			lip vein|vena labialis|labial vein|labial vein of face	http://purl.obolibrary.org/obo/UBERON_0013136	A vein that drains a lip.	
UBERON:0013139	ligament of liver	biolink:AnatomicalEntity	mondo			liver ligament|hepatic ligament	http://purl.obolibrary.org/obo/UBERON_0013139	A nonskeletal ligament that is part of a liver.	
UBERON:0015795	right lung lobar bronchus epitheium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015795	A epithelium that is part of a lobar bronchus of right lung.	
UBERON:0015794	left lung lobar bronchus epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015794	A epithelium that is part of a lobar bronchus of left lung.	
UBERON:0015796	liver blood vessel	biolink:AnatomicalEntity	mondo			hepatic blood vessel	http://purl.obolibrary.org/obo/UBERON_0015796	A blood vessel that is part of a liver.	
MONDO:0016504	primary unilateral adrenal hyperplasia	biolink:Disease	mondo	SCTID:715868005|UMLS:C4274967|ICD10:E26.0|Orphanet:231580	ordo_disease	PUAH	http://purl.obolibrary.org/obo/MONDO_0016504	Primary unilateral adrenal hyperplasia (PUAH) is a surgically-correctable form of primary (hyper) aldosteronism (PA) characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland.	ORPHA:231580|UMLS:C4274967|SNOMEDCT:715868005
MONDO:0016505	aldosterone-producing adrenal cortex adenoma	biolink:Disease	mondo	UMLS:C1706762|Orphanet:231625|UMLS:CN226945|ICD10:E26.0|EFO:1000015|MedDRA:10056950|NCIT:C48451|ICD10:C74.0	ordo_disease	aldosterone producing adrenal cortical adenoma|aldosterone producing adrenal cortex adenoma|Pure aldosterone-producing adrenocortical carcinoma|aldosterone-producing adrenal cortex adenoma|APAC|Pure aldosterone-secreting adrenocortical carcinoma|adrenocortical carcinoma with pure aldosterone hypersecretion|Pure APAC	http://purl.obolibrary.org/obo/MONDO_0016505	An adenoma of the adrenal cortex that produces aldosterone. It may be associated with Conn syndrome. Clinical presentation includes hypertension, hypokalemia, and muscle weakness.	NCIT:C48451|ORPHA:231625|UMLS:CN226945|UMLS:C1706762
UBERON:0001152	cystic duct	biolink:AnatomicalEntity	mondo			ductus cysticus	http://purl.obolibrary.org/obo/UBERON_0001152	the tubular structure that conducts gall bladder contents from the gall bladder to the common bile duct	
MONDO:0016506	ectopic aldosterone-producing tumor	biolink:Disease	mondo	UMLS:CN201515|Orphanet:231632|ICD10:E26.8	ordo_disease	Extra-adrenal aldosterone-producing tumor	http://purl.obolibrary.org/obo/MONDO_0016506	Ectopic aldosterone-producing tumor is an extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (e.g. in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries) typically characterized by symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement.	UMLS:CN201515|ORPHA:231632
MONDO:0016507	rare surgically correctable form of primary aldosteronism	biolink:Disease	mondo	Orphanet:231637|UMLS:CN226946	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016507	Surgically correctable forms of primary aldosteronism (also known as primary hyperaldosteronism) are characterized by unilateral aldosterone hypersecretion and renin suppression, associated with varying degrees of hypertension and hypokalemia.	ORPHA:231637|UMLS:CN226946
MONDO:0016500	acute sensory ataxic neuropathy	biolink:Disease	mondo	Orphanet:231466|SCTID:766049000|ICD10:G61.0|UMLS:CN201503	ordo_disease	acute sensory ataxic Guillain-Barré syndrome|acute sensory ataxic Guillain-BarrC) syndrome|acute sensory ataxic GBS|ASAN	http://purl.obolibrary.org/obo/MONDO_0016500	Acute sensory ataxic neuropathy is a rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain.	ORPHA:231466|UMLS:CN201503|SNOMEDCT:766049000
GO:0060632	regulation of microtubule-based movement	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060632	Any process that modulates the rate, frequency, or extent of microtubule-based movement, the movement of organelles, other microtubules and other particles along microtubules, mediated by motor proteins.	
MONDO:0016501	Hermansky-Pudlak syndrome with pulmonary fibrosis	biolink:Disease	mondo	Orphanet:231500|ICD10:E70.3|UMLS:CN201506	ordo_clinical_subtype	HPS with pulmonary fibrosis	http://purl.obolibrary.org/obo/MONDO_0016501	Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis.	ORPHA:231500|UMLS:CN201506
MONDO:0016502	Hermansky-Pudlak syndrome without pulmonary fibrosis	biolink:Disease	mondo	Orphanet:231512|ICD10:E70.3|UMLS:CN201507	ordo_clinical_subtype	HPS without pulmonary fibrosis	http://purl.obolibrary.org/obo/MONDO_0016502	Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis.	ORPHA:231512|UMLS:CN201507
MONDO:0016503	congenital erosive and vesicular dermatosis	biolink:Disease	mondo	Orphanet:231573	ordo_disease	CEVD|congenital erosive and vesicular dermatosis with reticulated supple scarring	http://purl.obolibrary.org/obo/MONDO_0016503		ORPHA:231573
UBERON:0001158	descending colon	biolink:AnatomicalEntity	mondo			colon descendens	http://purl.obolibrary.org/obo/UBERON_0001158	The portion of the colon between the left colic flexure and the sigmoid colon at the pelvic brim; the portion of the descending colon lying in the left iliac fossa is sometimes called the iliac colon.	
UBERON:0001157	transverse colon	biolink:AnatomicalEntity	mondo			colon transversum	http://purl.obolibrary.org/obo/UBERON_0001157	The proximal-distal subdivision of colon that runs transversely across the upper part of the abdomen, from the right to the left colic flexure. Continuous with the descending colon[BTO,modified].	
CHEBI:24527	herbicide	biolink:ChemicalSubstance	mondo			herbicides|Unkrautbekaempfungsmittel|Wildkrautbekaempfungsmittel|Unkrautvertilgungsmittel|Herbizid	http://purl.obolibrary.org/obo/CHEBI_24527	A substance used to destroy plant pests.	
UBERON:0001159	sigmoid colon	biolink:AnatomicalEntity	mondo			colon sigmoideum|sigmoid flexure|sigmoid colon|pelvic colon	http://purl.obolibrary.org/obo/UBERON_0001159	The part of the large intestine that is closest to the rectum and anus. It forms a loop that averages about 40 cm. in length, and normally lies within the pelvis, but on account of its freedom of movement it is liable to be displaced into the abdominal cavity.	
MONDO:0004508	periapical periodontitis	biolink:Disease	mondo	EFO:1001391|MESH:D010485|UMLS:C0031030|ICD10:K04.5|SCTID:39273001|DOID:823		apical periodontitis|apical periodontitis NOS	http://purl.obolibrary.org/obo/MONDO_0004508	Inflammation of the periapical tissue. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is periapical granuloma. Suppurative inflammation is periapical abscess.	UMLS:C0031030|SNOMEDCT:39273001|DOID:823|MESH:D010485
UBERON:0001154	vermiform appendix	biolink:AnatomicalEntity	mondo			vermix|cecal appendix|apex of caecum|appendix|apex of cecum|appendix vermiformis|caecal appendix|appendix vermiformis	http://purl.obolibrary.org/obo/UBERON_0001154	A blind-ended tube connected to the cecum, from which it develops embryologically[WP].	
MONDO:0004507	atypical breast papilloma	biolink:Disease	mondo	NCIT:C36089|UMLS:C1332346|DOID:8227		atypical breast papilloma	http://purl.obolibrary.org/obo/MONDO_0004507	An intraductal papilloma of the breast characterized by the presence of focal epithelial atypia.	DOID:8227|NCIT:C36089|UMLS:C1332346
UBERON:0001153	caecum	biolink:AnatomicalEntity	mondo			blindgut|intestinum caecum|caeca|cecum|blind intestine|intestinum crassum caecum|ceca|caecum|intestinum crassum cecum	http://purl.obolibrary.org/obo/UBERON_0001153	A pouch in the digestive tract that connects the ileum with the ascending colon of the large intestine. It is separated from the ileum by the ileocecal valve, and is the beginning of the large intestine. It is also separated from the colon by the cecocolic junction.	
UBERON:0001156	ascending colon	biolink:AnatomicalEntity	mondo			colon ascendens|spiral colon	http://purl.obolibrary.org/obo/UBERON_0001156	Section of colon which is distal to the cecum and proximal to the transversecolon.[FMA,modified]	
MONDO:0004509	intrahepatic biliary papillomatosis	biolink:Disease	mondo	NCIT:C7125|UMLS:C1334258|DOID:8230		intrahepatic bile duct papillary neoplasm|intrahepatic bile duct papillomatosis|intrahepatic biliary papillomatosis	http://purl.obolibrary.org/obo/MONDO_0004509	A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the intrahepatic bile ducts.	DOID:8230|UMLS:C1334258|NCIT:C7125
UBERON:0001155	colon	biolink:AnatomicalEntity	mondo			posterior intestine|large bowel|hindgut	http://purl.obolibrary.org/obo/UBERON_0001155	Last portion of the large intestine before it becomes the rectum.	
MONDO:0004526	mixed endometrial stromal and smooth muscle tumor	biolink:Disease	mondo	UMLS:C1513364|UMLS:C1519865|DOID:8302|NCIT:C40178		Stromomyoma|mixed endometrial stromal and smooth muscle neoplasm|uterine corpus soft tissue neoplasm	http://purl.obolibrary.org/obo/MONDO_0004526	A benign or malignant mesenchymal neoplasm of the uterine corpus. Representative examples include leiomyoma, leiomyosarcoma, and endometrial stromal sarcoma.	NCIT:C40178|UMLS:C1513364|UMLS:C1519865|DOID:8302
MONDO:0004525	scabies	biolink:Disease	mondo	DOID:8295|ICD9:133.0|ICD10:B86|NCIT:C34998|COHD:140949|MESH:D012532|SCTID:128869009|UMLS:C0036262		infestation by Sarcoptes scabiei|sarcoptic itch|infestation by Sarcoptes scabiei var hominis|Sarcoptes scabiei disease or disorder|Sarcoptes scabiei infectious disease|Sarcoptes scabiei caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0004525	A contagious skin infection that is caused by the burrowing parasitic mite, Sarcoptes scabiei, and is characterized by intense itching and small, raised red spots in the area of the mite burrows.	MESH:D012532|SNOMEDCT:128869009|NCIT:C34998|UMLS:C0036262|DOID:8295
CHEBI:24532	organic heterocyclic compound	biolink:ChemicalSubstance	mondo			organic heterocycle|organic heterocyclic compounds	http://purl.obolibrary.org/obo/CHEBI_24532	A cyclic compound having as ring members atoms of carbon and at least of one other element.	
MONDO:0004528	lymph node palisaded myofibroblastoma	biolink:Disease	mondo	NCIT:C6584|DOID:8304|UMLS:C1335295		palisaded lymph node myofibroblastoma|palisaded myofibroblastoma of lymph node|palisaded myofibroblastoma of the lymph node	http://purl.obolibrary.org/obo/MONDO_0004528	A myofibroblastoma arising from the inguinal lymph nodes. It is characterized by the presence of nuclear palisading.	NCIT:C6584|UMLS:C1335295|DOID:8304
GO:1901738	regulation of vitamin A metabolic process	biolink:OntologyClass	mondo			regulation of vitamin A metabolism	http://purl.obolibrary.org/obo/GO_1901738	Any process that modulates the frequency, rate or extent of vitamin A metabolic process.	
CHEBI:24531	heterocyclic antibiotic	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_24531		
MONDO:0004527	congenital granular cell tumor	biolink:Disease	mondo	DOID:8303		congenital granular cell tumor	http://purl.obolibrary.org/obo/MONDO_0004527	An instance of granular cell tumor that is present from birth.	DOID:8303
MONDO:0004522	peritonitis	biolink:Disease	mondo	DOID:8283|ICD9:567.8|ICD9:567.89|ICD9:567.82|COHD:196152|EFO:0008588|NCIT:C26849|SCTID:86422009		acute generalized peritonitis|inflammation of peritoneum|primary bacterial peritonitis|retractile mesenteritis|peritoneum inflammation|sclerosing mesenteritis	http://purl.obolibrary.org/obo/MONDO_0004522	Inflammation of the peritoneum due to infection by bacteria or fungi. Causes include liver disease, perforation of the gastrointestinal tract or biliary tract, and peritoneal dialysis. Patients usually present with abdominal pain and tenderness, fever, chills, and nausea and vomiting. It is an emergency medical condition that requires prompt medical attention and treatment.	DOID:8283|SNOMEDCT:86422009|NCIT:C26849
MONDO:0004521	adult epithelioid sarcoma	biolink:Disease	mondo	DOID:8282|NCIT:C7944|UMLS:C0279545		adult epithelioid sarcoma|epithelioid sarcoma of adults|epithelioid sarcoma	http://purl.obolibrary.org/obo/MONDO_0004521	An epithelioid sarcoma occurring in adults.	UMLS:C0279545|NCIT:C7944|DOID:8282
MONDO:0004524	thyroid gland atypical follicular adenoma	biolink:Disease	mondo	UMLS:C1266046|NCIT:C27729|DOID:8292|ICDO:8330/1		atypical follicular adenoma|thyroid gland atypical follicular adenoma|atypical follicular adenoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0004524	A thyroid gland adenoma with increased cellularity and nuclear atypia. There is no capsular or vascular invasion. The clinical course is benign.	UMLS:C1266046|NCIT:C27729|DOID:8292
MONDO:0004523	clear cell squamous cell skin carcinoma	biolink:Disease	mondo	UMLS:C0345978|NCIT:C4459|SCTID:254652000|DOID:8288		clear cell squamous cell skin carcinoma|clear cell squamous cell carcinoma of skin|clear cell squamous cell carcinoma of the skin	http://purl.obolibrary.org/obo/MONDO_0004523	A squamous cell carcinoma of the skin with a prominent clear cell component.	UMLS:C0345978|SNOMEDCT:254652000|DOID:8288|NCIT:C4459
HGNC:84	ACACA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/84		
HGNC:87	ACAD8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/87		
UBERON:0015788	olfactory apparatus chamber	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015788	An anatomical chamber that is part of the olfactory apparatus, consisting of cavity walls (nasal epithelium and mucosal layers) and the space bounded anteriorly by the nares and posteriorly by the choanae, when these structures are present.	
UBERON:0013126	vein of abdomen	biolink:AnatomicalEntity	mondo			abdominal vein	http://purl.obolibrary.org/obo/UBERON_0013126	A vein that is part of a abdomen.	
UBERON:0015787	upper respiratory conduit	biolink:AnatomicalEntity	mondo			respiratory conduit	http://purl.obolibrary.org/obo/UBERON_0015787	Any anatomical conduit which is part of the upper respiratory tract	
MONDO:0004520	intratubular embryonal carcinoma	biolink:Disease	mondo	NCIT:C7325|UMLS:C1336096|DOID:8275		stage 0 testicular embryonal carcinoma aJCC v7|stage 0 testicular embryonal carcinoma aJCC v6|intratubular embryonal carcinoma|stage 0 testicular embryonal carcinoma aJCC v6 and v7|stage 0 testicular embryonal carcinoma	http://purl.obolibrary.org/obo/MONDO_0004520	Stage 0 includes: pTis, N0, M0, S0. pTis: Intratubular germ cell neoplasia (carcinoma in situ). N0: regional lymph node metastasis. M0: No distant metastasis. S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.)	NCIT:C7325|UMLS:C1336096|DOID:8275
HGNC:89	ACADM	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/89		
UBERON:0015789	cranial or facial muscle	biolink:AnatomicalEntity	mondo			cranial/facial muscle|craniofacial muscle|cranial-facial muscle|cranio-facial muscle	http://purl.obolibrary.org/obo/UBERON_0015789		
UBERON:0013121	proximal epiphysis of phalanx of pes	biolink:AnatomicalEntity	mondo			basal epiphysis of phalanx of foot|basis phalangis pedis|basis phalangis (pedis)|proximal epiphysis of phalanx of toe|base of phalanx of foot	http://purl.obolibrary.org/obo/UBERON_0013121		
UBERON:0013122	distal epiphysis of phalanx of pes	biolink:AnatomicalEntity	mondo			ungual tuberosity of distal phalanx of toe|distal epiphysis of phalanx of toe|caput phalangis pedis|distal end of phalanx of foot|caput phalangis (pedis)|head of phalanx of foot	http://purl.obolibrary.org/obo/UBERON_0013122		
UBERON:0015783	smooth muscle layer in fatty layer of subcutaneous tissue	biolink:AnatomicalEntity	mondo			stratum musculosum panniculi adiposi telae subcutaneae|muscle layer in fatty layer of subcutaneous tissue	http://purl.obolibrary.org/obo/UBERON_0015783	A smooth muscle tissue that is part of a hypodermis.	
UBERON:0001141	right renal vein	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0001141	A renal vein that drains the right kidney	
UBERON:0001140	renal vein	biolink:AnatomicalEntity	mondo			vein of kidney|kidney vein|renal venous tree|venae renales	http://purl.obolibrary.org/obo/UBERON_0001140	Either of the pair of major vessels which arise from the renal hilus and return blood from the kidneys, suprarenal gland and the ureter to the inferior vena cava.	
UBERON:0013118	sulcus of brain	biolink:AnatomicalEntity	mondo			cerebral sulcus|cerebral sulci|fissure of brain|sulcus|sulci & spaces|cerebral sulci	http://purl.obolibrary.org/obo/UBERON_0013118	A depression or fissure in the surface of the brain. It surrounds the gyri, creating the characteristic appearance of the brain in humans and other large mammals.	
GO:0060623	regulation of chromosome condensation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060623	Any process that modulates the rate, frequency, or extent of chromosome condensation, the progressive compaction of dispersed interphase chromatin into threadlike chromosomes prior to mitotic or meiotic nuclear division, or during apoptosis, in eukaryotic cells.	
UBERON:0001146	suprarenal vein	biolink:AnatomicalEntity	mondo			adrenal vein	http://purl.obolibrary.org/obo/UBERON_0001146	A vein that drains the adrenal gland.	
GO:0060627	regulation of vesicle-mediated transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060627	Any process that modulates the rate, frequency, or extent of vesicle-mediated transport, the directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell.	
UBERON:0001148	median nerve	biolink:AnatomicalEntity	mondo			nervus medianus	http://purl.obolibrary.org/obo/UBERON_0001148	A nerve of the arm that originates from the brachial plexus and is formed from parts of the medial and lateral cords of the brachial plexus, and continues down the arm to enter the forearm with the brachial artery. It originates from the brachial plexus with roots from C5, C6, C7, C8 &amp; T1.	
UBERON:0001143	hepatic vein	biolink:AnatomicalEntity	mondo			vena hepatica|liver vein|hepatic veins|vein of liver|venae hepaticae	http://purl.obolibrary.org/obo/UBERON_0001143	Vein that carries blood away from the liver[ZFA].	
MONDO:0004519	synovial angioma	biolink:Disease	mondo	DOID:8274|UMLS:C1336546|NCIT:C6525		angioma of synovium|synovial hemangioma|angioma of the synovium|hemangioma of the synovium|hemangioma of layer of synovial tissue|layer of synovial tissue hemangioma|hemangioma of synovium	http://purl.obolibrary.org/obo/MONDO_0004519	A rare hemangioma arising from synovium lining surfaces.	UMLS:C1336546|DOID:8274|NCIT:C6525
SO:0000301	vertebrate_immune_system_gene_recombination_feature	biolink:SequenceFeature	mondo			vertebrate immune system gene recombination feature	http://purl.obolibrary.org/obo/SO_0000301	A feature where recombination has occurred for the purpose of generating a diversity in the immune system.	
MONDO:0004518	anterior urethra cancer	biolink:Disease	mondo	NCIT:C7641|DOID:8272|UMLS:C0279930		malignant tumor of anterior urethra|anterior urethral malignant tumor|malignant tumor of the anterior urethra|anterior urethral cancer|anterior urethra malignant neoplasm|malignant neoplasm of anterior urethra|malignant neoplasm of the anterior urethra|anterior urethra malignant tumor|anterior urethral malignant neoplasm	http://purl.obolibrary.org/obo/MONDO_0004518	A malignant neoplasm that affects the portion of the urethra that is close to the outside of the body.	DOID:8272|UMLS:C0279930|NCIT:C7641
UBERON:0001142	left renal vein	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0001142	A renal vein that drains the left kidney	
SO:0000300	recombination_feature_of_rearranged_gene	biolink:SequenceFeature	mondo			recombination feature of rearranged gene	http://purl.obolibrary.org/obo/SO_0000300	A location where a gene is rearranged due to recombination during mitosis or meiosis.	
UBERON:0001145	ovarian vein	biolink:AnatomicalEntity	mondo			vein of gonada of female reproductive system|vein of female reproductive system gonada|female reproductive system gonad vein|vena ovarica sinistra|female reproductive system gonada vein|vena ovarica dextra|vein of female reproductive system gonad|vein of gonad of female reproductive system|gonada of female reproductive system vein|vein of ovary|gonad of female reproductive system vein|ovary vein	http://purl.obolibrary.org/obo/UBERON_0001145	A vein that carries deoxygenated blood from its corresponding ovary to inferior vena cava or one of its tributaries.	
UBERON:0001144	testicular vein	biolink:AnatomicalEntity	mondo			vein of testicle|venae spermaticae|vena testicularis sinistra|testicle vein|vena testicularis dextra|vena tesicularis|spermatic vein|testicular venous tree|male gonadal vein	http://purl.obolibrary.org/obo/UBERON_0001144	A vein that carries deoxygenated blood from a single male gonad. It is the male equivalent of the ovarian vein, and is the venous counterpart of the testicular artery. It is a paired vein, with one supplying each testis.	
NCBITaxon:33351	Panheteroptera	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_33351		
SO:0000342	site_specific_recombination_target_region	biolink:SequenceFeature	mondo			site specific recombination target region	http://purl.obolibrary.org/obo/SO_0000342	A region specifically recognised by a recombinase where recombination can occur during mitosis or meiosis.	
UBERON:0015777	transitional epithelium of prostatic urethra	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015777		
GO:0045017	glycerolipid biosynthetic process	biolink:OntologyClass	mondo			glycerolipid anabolism|glycerolipid biosynthesis|glycerolipid synthesis|glycerolipid formation	http://purl.obolibrary.org/obo/GO_0045017	The chemical reactions and pathways resulting in the formation of glycerolipids, any lipid with a glycerol backbone.	
HGNC:53	ABCC2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/53		
HGNC:57	ABCC6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/57		
HGNC:59	ABCC8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/59		
UBERON:0001130	vertebral column	biolink:AnatomicalEntity	mondo			backbone|vertebral region|columna vertebralis|vertebral column skeleton|spine|dorsal spine|spinal column	http://purl.obolibrary.org/obo/UBERON_0001130	Subdivision of skeletal system that consists of all the vertebra and associated skeletal elements and joints in the body[modified from VSAO].	
UBERON:0001136	mesothelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0001136	Simple squamous epithelium of mesodermal origin which lines serous membranes. Examples: mesothelium of pleura, mesothelium of peritoneum[FMA]. Wikipedia: The mesothelium is a membrane that forms the lining of several body cavities: the pleura (thoracal cavity), peritoneum (abdominal cavity including the mesentery) and pericardium (heart sac). Mesothelial tissue also surrounds the male internal reproductive organs (the tunica vaginalis testis) and covers the internal reproductive organs of women (the tunica serosa uteri).	
UBERON:0001135	smooth muscle tissue	biolink:AnatomicalEntity	mondo			visceral muscle tissue|smooth muscle|visceral muscle|non-striated muscle|involuntary muscle|textus muscularis levis; textus muscularis nonstriatus|textus muscularis nonstriatus	http://purl.obolibrary.org/obo/UBERON_0001135	Muscle tissue which is unstriated, composed primarily of smooth muscle fibers surrounded by a reticulum of collagen and elastic fibers. Smooth muscle differs from striated muscle in the much higher actin/myosin ratio, the absence of conspicuous sarcomeres and the ability to contract to a much smaller fraction of its resting length[GO].	
UBERON:0001138	superior mesenteric vein	biolink:AnatomicalEntity	mondo			vena mesenterica superior|upper mesenteric vein	http://purl.obolibrary.org/obo/UBERON_0001138	In anatomy, the superior mesenteric vein (SMV) is a blood vessel that drains blood from the small intestine. At its termination behind the neck of the pancreas, the SMV combines with the splenic vein to form the hepatic portal vein. The SMV lies to the right of the similarly named artery, the superior mesenteric artery, which originates from the abdominal aorta. [WP,unvetted].	
UBERON:0001137	dorsum	biolink:AnatomicalEntity	mondo			back of body proper|dorsal part of organism|back	http://purl.obolibrary.org/obo/UBERON_0001137	A major subdivision of an organism that is the entire part of the organism dorsal to a horizontal plane and bounded on one side by the same transverse plane. In vertebrares this includes the vertebral column..	
UBERON:0001132	parathyroid gland	biolink:AnatomicalEntity	mondo			epithelial body|parathyroid secreting cell|parathyroid	http://purl.obolibrary.org/obo/UBERON_0001132	The parathyroid gland is an endocrine gland for secretion of parathyroid hormone, usually found as a pair, embedded in the connective tissue capsule on the posterior surface of the thyroid gland. Parathyroid regulates calcium and phosphorous metabolism.	
NCBITaxon:33356	Reduvioidea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_33356		
UBERON:0001131	vertebral foramen	biolink:AnatomicalEntity	mondo			vertebra neural canal|foramen vertebrale	http://purl.obolibrary.org/obo/UBERON_0001131	A foramen within a vertebral element through which the spinal cord runs. It is formed by the anterior segment, and the posterior part, the vertebral arch.	
UBERON:0001134	skeletal muscle tissue	biolink:AnatomicalEntity	mondo			skeletal muscle system|somatic muscle|skeletal muscle	http://purl.obolibrary.org/obo/UBERON_0001134	Muscle tissue that consists primarily of skeletal muscle fibers.	
UBERON:0001133	cardiac muscle tissue	biolink:AnatomicalEntity	mondo			textus muscularis of heart muscle|muscle tissue of cardiac muscle|myocardium muscle tissue|muscle of heart muscle tissue|textus muscularis of heart myocardium|muscle tissue of muscle of heart|heart muscle muscle tissue|textus muscularis of cardiac muscle|myocardium textus muscularis|cardiac musculature|heart myocardium muscle tissue|muscle of heart textus muscularis|muscle tissue of myocardium|cardiac muscle muscle tissue|heart muscle textus muscularis|muscle tissue of heart muscle|heart myocardium textus muscularis|textus muscularis of myocardium|cardiac muscle|cardiac muscle textus muscularis|muscle tissue of heart myocardium|textus muscularis of muscle of heart	http://purl.obolibrary.org/obo/UBERON_0001133	Muscle tissue composed of cardiac muscle cells, forming the muscles of the heart[ZFA,modified].	
NCBITaxon:33354	Cimicomorpha	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_33354		
MONDO:0004504	penile urethral cancer	biolink:Disease	mondo	DOID:8223|UMLS:C1518950|NCIT:C39868		penile urethral malignant neoplasm|urethra cancer of penis|penis urethra cancer	http://purl.obolibrary.org/obo/MONDO_0004504	A urethra cancer that involves the penis.	NCIT:C39868|DOID:8223|UMLS:C1518950
NCBITaxon:33340	Neoptera	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_33340		
MONDO:0004503	upper clivus meningioma	biolink:Disease	mondo	DOID:8221|NCIT:C5290|UMLS:C1336871		meningioma of upper clivus|meningioma of the upper clivus	http://purl.obolibrary.org/obo/MONDO_0004503	A meningioma that affects the upper clivus.	DOID:8221|UMLS:C1336871|NCIT:C5290
MONDO:0004506	microscopic breast papilloma	biolink:Disease	mondo	UMLS:C1335390|NCIT:C36088|DOID:8225		peripheral breast papilloma|microscopic breast papilloma	http://purl.obolibrary.org/obo/MONDO_0004506	A benign papillary neoplasm that arises in a terminal ductal lobular unit. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Peripheral breast papillomas are often multiple and are usually found microscopically. Patients are often asymptomatic.	UMLS:C1335390|DOID:8225|NCIT:C36088
MONDO:0004505	central breast papilloma	biolink:Disease	mondo	UMLS:C1332896|NCIT:C36087|DOID:8224		large duct breast papilloma|solitary intraductal breast papilloma	http://purl.obolibrary.org/obo/MONDO_0004505	A benign papillary neoplasm that arises in a large duct of the breast. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Patients usually present with nipple discharge.	DOID:8224|NCIT:C36087|UMLS:C1332896
UBERON:0001118	lobe of thyroid gland	biolink:AnatomicalEntity	mondo			thyroid lobe|thyroid gland lobe|lobuli glandulae thyroideae|lobus (glandula thyroidea)|lobus glandulae thyroideae	http://purl.obolibrary.org/obo/UBERON_0001118	A lobe of tissue that is part of a thyroid gland.	
MONDO:0004500	lung superior sulcus carcinoma	biolink:Disease	mondo	DOID:8208|UMLS:C1336529|NCIT:C7779		superior sulcus carcinoma of lung|superior sulcus carcinoma of the lung|superior sulcus lung carcinoma	http://purl.obolibrary.org/obo/MONDO_0004500	A carcinoma originating from the apical lung. Most superior sulcus lung carcinomas are bronchogenic carcinomas. This carcinoma may be associated with Pancoast syndrome. lt is also known as Pancoast tumor.	NCIT:C7779|UMLS:C1336529|DOID:8208
HGNC:61	ABCD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/61		
HGNC:60	ABCC9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/60		
MONDO:0004502	parapharyngeal meningioma	biolink:Disease	mondo	DOID:8216|UMLS:C1335345|NCIT:C5303			http://purl.obolibrary.org/obo/MONDO_0004502		UMLS:C1335345|DOID:8216|NCIT:C5303
MONDO:0004501	fallopian tube cystadenofibroma	biolink:Disease	mondo	NCIT:C40114|UMLS:C1517111|DOID:8211		cystadenofibroma of fallopian tube|fallopian tube cystadenofibroma|fallopian tube serous cystadenofibroma	http://purl.obolibrary.org/obo/MONDO_0004501	A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The tumors are round and solitary and contain connective tissue and cystic structures lined by serous-type epithelium. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder.	NCIT:C40114|UMLS:C1517111|DOID:8211
UBERON:0001119	right lobe of thyroid gland	biolink:AnatomicalEntity	mondo			lobus dexter (glandula thyroidea)|right thyroid lobe|thyroid gland right lobe	http://purl.obolibrary.org/obo/UBERON_0001119	A lobe of thyroid gland that is in the right side of a thyroid gland.	
UBERON:0015766	epithelium of duct of salivary gland	biolink:AnatomicalEntity	mondo			epithelium of salivary duct|salivary duct epithelium|salivary ductal epithelium	http://purl.obolibrary.org/obo/UBERON_0015766	A epithelium that is part of a duct of salivary gland.	
HGNC:67	ABCD3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/67		
HGNC:68	ABCD4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/68		
NCBITaxon:33349	Neoheteroptera	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_33349		
NCBITaxon:33347	Euheteroptera	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_33347		
NCBITaxon:33345	Heteroptera	organism taxon	mondo	GC_ID:1		true bugs	http://purl.obolibrary.org/obo/NCBITaxon_33345		
UBERON:0001120	left lobe of thyroid gland	biolink:AnatomicalEntity	mondo			left thyroid lobe|thyroid gland left lobe|lobus sinister (glandula thyroidea)	http://purl.obolibrary.org/obo/UBERON_0001120	A lobe of thyroid gland that is in the left side of a thyroid gland.	
NCBITaxon:33342	Paraneoptera	organism taxon	mondo	GC_ID:1		Hemipteroidea|hemipteroid assemblage	http://purl.obolibrary.org/obo/NCBITaxon_33342		
SO:0000325	rRNA_large_subunit_primary_transcript	biolink:SequenceFeature	mondo			35S rRNA primary transcript|rRNA large subunit primary transcript	http://purl.obolibrary.org/obo/SO_0000325	A primary transcript encoding a large ribosomal subunit RNA.	
NCBITaxon:33343	Prosorrhyncha	organism taxon	mondo	GC_ID:1		Heteropterodea|bugs	http://purl.obolibrary.org/obo/NCBITaxon_33343		
MONDO:0004559	malignant glandular tumor of peripheral nerve sheath	biolink:Disease	mondo	SCTID:699659007|UMLS:C1333821|NCIT:C6560|DOID:8420|ICD9:171.9		malignant glandular tumor of the peripheral nerve sheath|malignant glandular peripheral nerve sheath neoplasm|malignant glandular tumor of peripheral nerve sheath|glandular MPNST|malignant glandular neoplasm of the peripheral nerve sheath|malignant glandular neoplasm of peripheral nerve sheath|malignant glandular schwannoma|malignant glandular peripheral nerve sheath tumor|glandular malignant peripheral nerve sheath tumor	http://purl.obolibrary.org/obo/MONDO_0004559	A variant of malignant peripheral nerve sheath tumor characterized by the presence of glandular epithelium.	UMLS:C1333821|SNOMEDCT:699659007|NCIT:C6560|DOID:8420
MONDO:0004558	thyroid gland macrofollicular adenoma	biolink:Disease	mondo	UMLS:C0334329|ICDO:8334/0|NCIT:C4161|DOID:8419		macrofollicular adenoma|macrofollicular adenoma (morphologic abnormality)|colloid adenoma	http://purl.obolibrary.org/obo/MONDO_0004558	A thyroid gland adenoma composed of large size follicles.	NCIT:C4161|UMLS:C0334329|DOID:8419
MONDO:0004555	kidney angiomyolipoma	biolink:Disease	mondo	UMLS:C0241961|SCTID:254921004|DOID:8411|ONCOTREE:RAML|NCIT:C3888|EFO:1000312		angiomyolipoma of kidney|kidney angiomyolipoma|angiomyolipoma of the kidney|renal angiomyolipoma|RAML	http://purl.obolibrary.org/obo/MONDO_0004555	An angiomyolipoma arising from the kidney.	UMLS:C0241961|SNOMEDCT:254921004|DOID:8411|NCIT:C3888
MONDO:0004554	childhood kidney angiomyolipoma	biolink:Disease	mondo	DOID:8410|UMLS:C1333000|NCIT:C6565		pediatric kidney angiomyolipoma|kidney angiomyolipoma of childhood|pediatric kidney angiomyolipoma|pediatric renal angiomyolipoma|childhood renal angiomyolipoma	http://purl.obolibrary.org/obo/MONDO_0004554	An angiomyolipoma occurring in childhood.	NCIT:C6565|DOID:8410|UMLS:C1333000
MONDO:0004557	congenital fibrosarcoma	biolink:Disease	mondo	ONCOTREE:IFS|UMLS:C0334459|SCTID:403996004|NCIT:C4244|ICDO:8814/3|ICD9:171.9|DOID:8418		IFS|congenital fibrosarcoma|infantile fibrosarcoma (morphologic abnormality)|infantile fibrosarcoma|infantile fibrosarcoma (congenital fibrosarcoma)	http://purl.obolibrary.org/obo/MONDO_0004557	A fibrosarcoma that occurs in infants. It shares identical morphologic features with adult fibrosarcoma but carries the t(12;15)(p13;q25) translocation that results in ETV6-NTRK3 gene fusion. It usually affects the superficial and deep soft tissues of the extremities. The prognosis is generally much more favorable than for adult fibrosarcoma, and it rarely metastasizes.	NCIT:C4244|DOID:8418|UMLS:C0334459|SNOMEDCT:403996004
MONDO:0004556	carcinoma arising in nasal papillomatosis	biolink:Disease	mondo	DOID:8415|NCIT:C27389|UMLS:C1332840		carcinoma arising in nasal papillomatosis	http://purl.obolibrary.org/obo/MONDO_0004556	A rare squamous cell carcinoma that either arises from or is associated with the presence of inverted papilloma in the nose.	UMLS:C1332840|NCIT:C27389|DOID:8415
MONDO:0004551	Meckel diverticulitis	biolink:Disease	mondo	UMLS:C0267497|NCIT:C27300|SCTID:48241004|DOID:8408		inflammation of Meckel's diverticulum|Meckel diverticulitis|Meckel's diverticulum inflammation|Meckel's diverticulitis	http://purl.obolibrary.org/obo/MONDO_0004551	Inflammation of a congenital diverticulum of the lower intestine.	NCIT:C27300|SNOMEDCT:48241004|DOID:8408|UMLS:C0267497
MONDO:0004550	malignant cornea melanoma	biolink:Disease	mondo	NCIT:C4553|DOID:8400|UMLS:C0346367		malignant melanoma of cornea|malignant melanoma of the cornea|melanoma of cornea|cornea melanoma|melanoma of the cornea|malignant cornea melanoma|cornea melanoma (disease)|melanoma (disease) of cornea|corneal melanoma|malignant corneal melanoma	http://purl.obolibrary.org/obo/MONDO_0004550	A melanoma within the cornea of the eye.	DOID:8400|NCIT:C4553|UMLS:C0346367
MONDO:0004553	extrinsic allergic alveolitis	biolink:Disease	mondo	DOID:841|NCIT:C34369|ICD10:J67.9|ICD9:495|MESH:D000542|COHD:444084|ICD9:495.9		allergic form of pneumonitis|alveolitis|allergic pneumonitis|extrinsic allergic alveolitis|hypersensitivity pneumonitis	http://purl.obolibrary.org/obo/MONDO_0004553	An inflammatory interstitial lung disease caused by hypersensitivity reaction to inhalation or ingestion of antigens. The antigens are usually related to the patient's occupation. It can present as an acute illness with flu-like symptoms, subacute with repeated episodes of pneumonia, or chronic with dyspnea and productive cough. The majority of patients recover following the cessation of the exposure to the antigen that causes the disease. Chronic exposure may eventually progress to interstitial lung fibrosis.	NCIT:C34369|DOID:841|MESH:D000542
MONDO:0004552	microinvasive cervical squamous cell carcinoma	biolink:Disease	mondo	UMLS:C1333370|DOID:8409|NCIT:C36094		early invasive cervical squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004552	A cervical squamous cell carcinoma with minimal stromal invasion. The risk of lymph node metastasis is low.	DOID:8409|NCIT:C36094|UMLS:C1333370
MONDO:0016548	megacystis-megaureter syndrome	biolink:Disease	mondo	Orphanet:238637|ICD10:Q62.7|SCTID:253904001	ordo_disease	megaureter-megacystis syndrome	http://purl.obolibrary.org/obo/MONDO_0016548	Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition.	ORPHA:238637|SNOMEDCT:253904001|UMLS:C0431752
UBERON:0001194	splenic artery	biolink:AnatomicalEntity	mondo			lienal artery|arteria splenica|arteria lienalis	http://purl.obolibrary.org/obo/UBERON_0001194	An artery that supplies the spleen.	
MONDO:0016549	primary megaureter, adult-onset form	biolink:Disease	mondo	Orphanet:238642|ICD10:Q62.2|UMLS:CN201632	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0016549		ORPHA:238642|UMLS:CN201632
UBERON:0001193	hepatic artery	biolink:AnatomicalEntity	mondo			arteria hepatica|arteria hepatica propria	http://purl.obolibrary.org/obo/UBERON_0001193	An artery that supplies the liver.	
UBERON:0001196	middle colic artery	biolink:AnatomicalEntity	mondo			arteria colica media	http://purl.obolibrary.org/obo/UBERON_0001196	The middle colic artery is a branch of the superior mesenteric artery that mostly supplies the transverse colon. It arises just below the pancreas, and, passing downward and forward between the layers of the transverse mesocolon, divides into two branches: right and left. The right branch anastomoses with the right colic artery The left branch anastomoses with the left colic artery, a branch of the inferior mesenteric artery. The arches thus formed are placed about two fingers' breadth from the transverse colon, to which they distribute branches. [WP,unvetted].	
MONDO:0016544	IgG4-related mesenteritis	biolink:Disease	mondo	ICD10:K65.8|SCTID:1092381000119100|GARD:0008169|Orphanet:238593	ordo_disease	liposclerotic mesenteritis|mesenteric panniculitis|isolated mesenteric lipodystrophy|mesenteric lipogranuloma|sclerosing mesenteritis|lipomatous mesenteritis	http://purl.obolibrary.org/obo/MONDO_0016544	Sclerosing mesenteritis (SM) is a rare pathological disease causing inflammation of the adipose tissue of the small bowel mesentery and is commonly associated with abdominal pain, diarrhea, nausea, weight loss, bloating and loss of appetite. The two subforms include mesenteric panniculitis (where inflammation and fatty necrosis are dominant features) and retractile mesenteritis (where fibrosis and retraction dominate).	SNOMEDCT:1092381000119100|ORPHA:238593
UBERON:0001190	ovarian artery	biolink:AnatomicalEntity	mondo			arteria ovarica|ovarian arterial tree	http://purl.obolibrary.org/obo/UBERON_0001190	An artery that supplies an ovary.	
MONDO:0016545	leukoencephalopathy-palmoplantar keratoderma syndrome	biolink:Disease	mondo	Orphanet:2386|GARD:0003232|UMLS:CN201627	ordo_disease|gard_rare	leukoencephalopathy palmoplantar keratoderma	http://purl.obolibrary.org/obo/MONDO_0016545	Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration.	ORPHA:2386|UMLS:CN201627
MONDO:0016546	primary orthostatic tremor	biolink:Disease	mondo	ICD10:G25.2|MESH:C536418|SCTID:715902009|GARD:0008563|Orphanet:238606	gard_rare|ordo_disease	pot|orthostatic tremor, primary|shaky leg syndrome|OT	http://purl.obolibrary.org/obo/MONDO_0016546	Primary orthostatic tremor (POT), or ``shaky legs syndrome'', is a rare movement disorder characterized by fast, task-specific tremor, affecting the legs and trunk while standing.	MESH:C536418|ORPHA:238606|UMLS:C0878578|SNOMEDCT:715902009
MONDO:0016547	Beckwith-Wiedemann syndrome due to NSD1 mutation	biolink:Disease	mondo	Orphanet:238613|UMLS:CN201629|ICD10:Q87.3	ordo_etiological_subtype		http://purl.obolibrary.org/obo/MONDO_0016547		ORPHA:238613|UMLS:CN201629
UBERON:0001191	common iliac artery	biolink:AnatomicalEntity	mondo			common iliac arterial tree|arteria iliaca communis	http://purl.obolibrary.org/obo/UBERON_0001191	The common iliac arteries are two large arteries, about 4cm long in adults but more than a centimetre in diameter, that originate from the aortic bifurcation. The arteries run inferolaterally, along the medial border of the psoas muscles to the pelvic brim, where they bifurcate into the external iliac artery and internal iliac artery. The common iliac artery, and all of its branches, exist as paired structures (that is to say, there is one on the left side and one on the right). The distribution of the common iliac artery is basically the pelvis and lower limb on the corresponding side. Both common iliac arteries are accompanied along their course by common iliac veins. [WP,unvetted].	
MONDO:0016540	congenital secondary polycythemia	biolink:Disease	mondo	ICD10:D75.1|Orphanet:238536	ordo_group_of_disorders	congenital secondary erythrocytosis	http://purl.obolibrary.org/obo/MONDO_0016540		ORPHA:238536
MONDO:0016541	acquired secondary polycythemia	biolink:Disease	mondo	ICD10:D75.1|Orphanet:238547	ordo_group_of_disorders	acquired secondary erythrocytosis|acquired secondary polycythemia	http://purl.obolibrary.org/obo/MONDO_0016541	An instance of secondary polycythemia that is acquired during the lifetime of the individual.	ORPHA:238547
MONDO:0016542	immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome	biolink:Disease	mondo	Orphanet:238569|ICD10:K52.8|GARD:0013016|UMLS:CN201623	ordo_disease	autosomal recessive early-onset IBD|autosomal recessive early-onset inflammatory bowel disease|IL10-related early-onset IBD|IL10-related early-onset inflammatory bowel disease	http://purl.obolibrary.org/obo/MONDO_0016542	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome is a rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma.	UMLS:CN201623|ORPHA:238569
MONDO:0016543	hyperphenylalaninemia due to tetrahydrobiopterin deficiency	biolink:Disease	mondo	ICD10:E70.1|UMLS:C0751435|GARD:0007751|Orphanet:238583|SCTID:68528007|DC:0000202	ordo_disease	hyperphenylalaninemia|hyperphenylalaninemia due to BH4 deficiency|hyperphenylalaninemia due to tetrahydrobiopterin deficiency|non-phenylketonuric hyperphenylalaninemia	http://purl.obolibrary.org/obo/MONDO_0016543	Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine.	UMLS:C0751436|UMLS:C0751435|SNOMEDCT:68528007|ORPHA:238583
UBERON:0001197	ileocolic artery	biolink:AnatomicalEntity	mondo			arteria ileocolica	http://purl.obolibrary.org/obo/UBERON_0001197	The Ileocolic Artery is the lowest branch arising from the concavity of the superior mesenteric artery. It passes downward and to the right behind the peritoneum toward the right iliac fossa, where it divides into a superior and an inferior branch; the inferior anastomoses with the end of the superior mesenteric artery, the superior with the right colic artery. Supplies the cecum, ileum, and appendix. [WP,unvetted].	
UBERON:0001199	mucosa of stomach	biolink:AnatomicalEntity	mondo			stomach organ mucosa|stomach mucous membrane|mucosa of organ of stomach|ventriculus mucosa|ventriculus organ mucosa|tunica mucosa gastris|organ mucosa of ventriculus|gastric mucous membrane|mucous membrane of ventriculus|ventriculus mucosa of organ|tunica mucosa (gaster)|gastric mucosa|mucosa of ventriculus|mucosa of organ of ventriculus|stomach mucosa of organ|tunica mucosa gastricae|mucous membrane of stomach|ventriculus mucous membrane|organ mucosa of stomach|Magenschleimhaut|stomach mucosa	http://purl.obolibrary.org/obo/UBERON_0001199	The mucosal layer that lines the stomach.	
UBERON:0013161	left lateral ventricle	biolink:AnatomicalEntity	mondo			left telencephalic ventricle	http://purl.obolibrary.org/obo/UBERON_0013161	A telencephalic ventricle that is in_the_left_side_of a telencephalon.	
MONDO:0004569	brachial plexus neuropathy from injury	biolink:Disease	mondo	DOID:8443|ICD9:353.0|UMLS:C0006091		brachial plexus lesions|brachial plexus lesion	http://purl.obolibrary.org/obo/MONDO_0004569		UMLS:C0006091|DOID:8443
UBERON:0013162	right lateral ventricle	biolink:AnatomicalEntity	mondo			right telencephalic ventricle	http://purl.obolibrary.org/obo/UBERON_0013162	A telencephalic ventricle that is in_the_right_side_of a telencephalon.	
MONDO:0004566	postgastrectomy syndrome	biolink:Disease	mondo	UMLS:C0032763|ICD9:564.2|MESH:D011178|ICD10:K91.1|SCTID:80193009|DOID:8439		postgastric surgery syndrome	http://purl.obolibrary.org/obo/MONDO_0004566	Sequelae of gastrectomy from the second week after operation on. Include recurrent or anastomotic ulcer, postprandial syndromes (dumping syndrome and late postprandial hypoglycemia), disordered bowel action, and nutritional deficiencies.	DOID:8439|UMLS:C0032763|SNOMEDCT:80193009|MESH:D011178
MONDO:0004565	intestinal obstruction	biolink:Disease	mondo	UMLS:C0021843|DOID:8437|COHD:193518|ICD10:K56.60|MESH:D007415|ICD9:560.89|ICD10:K56.69|NCIT:C9175|ICD9:560.9|SCTID:81060008		bowel obstruction	http://purl.obolibrary.org/obo/MONDO_0004565	Blockage of the normal flow of the intestinal contents within the bowel.	MESH:D007415|UMLS:C0021843|DOID:8437|NCIT:C9175|SNOMEDCT:81060008
MONDO:0004568	paralytic ileus (disease)	biolink:Disease	mondo	ICD9:560.1|DOID:8442|COHD:192357|NCIT:C93045|UMLS:C0030446|SCTID:55525008|HP:0002590|ICD10:K56.0		paralytic ileus	http://purl.obolibrary.org/obo/MONDO_0004568	An ileus caused by abdominal or pelvic surgery, infections, disorders that affect the muscles and nerves, and medications. Signs and symptoms include those of intestinal obstruction.	DOID:8442|SNOMEDCT:55525008|NCIT:C93045|UMLS:C0030446
MONDO:0004567	ileus	biolink:Disease	mondo	DOID:8440|SCTID:710572000|MESH:D045823|NCIT:C37979|UMLS:C1258215		ileus of intestine	http://purl.obolibrary.org/obo/MONDO_0004567	Decrease in peristalsis in the absence of a mechanical bowel obstruction.	UMLS:C1258215|DOID:8440|MESH:D045823|SNOMEDCT:710572000|NCIT:C37979
UBERON:0013160	epithalamus ventricular layer	biolink:AnatomicalEntity	mondo			ventricular layer epithalamus|ventricular layer of epithalamus	http://purl.obolibrary.org/obo/UBERON_0013160		
MONDO:0004562	breast apocrine carcinoma in situ	biolink:Disease	mondo	UMLS:C1332315|DOID:8428|NCIT:C5140		apocrine carcinoma in situ of breast|apocrine carcinoma in situ of the breast|apocrine breast carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0004562	A ductal breast carcinoma in situ, characterized by the presence of neoplastic epithelial cells with apocrine differentiation.	NCIT:C5140|DOID:8428|UMLS:C1332315
MONDO:0004561	retinal melanoma	biolink:Disease	mondo	NCIT:C8601|UMLS:C0853394|DOID:8427|SCTID:423673009		retinal melanoma|melanoma (disease) of retina|malignant retinal melanoma|retina melanoma|malignant melanoma of retina|malignant melanoma of the retina|melanoma of retina|retina melanoma (disease)|melanoma of the retina	http://purl.obolibrary.org/obo/MONDO_0004561	A melanoma affecting the retinal portion of the eye. --2003	UMLS:C0853394|DOID:8427|SNOMEDCT:423673009|NCIT:C8601
MONDO:0004564	thyroid malformation	biolink:Disease	mondo	NCIT:C27331|DOID:8433		thyroid gland malformation	http://purl.obolibrary.org/obo/MONDO_0004564	An anatomic abnormality of the thyroid gland.	NCIT:C27331|DOID:8433
MONDO:0004563	physiological polycythemia	biolink:Disease	mondo	NCIT:C27311|UMLS:C0856817|DOID:8431			http://purl.obolibrary.org/obo/MONDO_0004563	Polycythemia that is not pathologic.	NCIT:C27311|DOID:8431|UMLS:C0856817
UBERON:0013165	epiglottic vallecula	biolink:AnatomicalEntity	mondo			vallecula epiglottica|vallecula|vallecula of epiglottis	http://purl.obolibrary.org/obo/UBERON_0013165	A depression in front of the epiglottis, in which food is temporarily gathered as the animal chews.	
MONDO:0004560	follicular infundibulum tumor	biolink:Disease	mondo	ICD9:239.2|NCIT:C4469|UMLS:C0346006|SCTID:254694002|DOID:8426		neoplasm of the follicular infundibulum|basal cell hamartoma with follicular differentiation|follicular infundibulum neoplasm|tumor of the follicular infundibulum|tumor of follicular infundibulum	http://purl.obolibrary.org/obo/MONDO_0004560		NCIT:C4469|DOID:8426|UMLS:C0346006|SNOMEDCT:254694002
MONDO:0016537	lymphoproliferative syndrome	biolink:Disease	mondo	OMIMPS:308240|UMLS:CN201619|Orphanet:238510|MESH:D008232|DOID:0060704|SCTID:277466009|NCIT:C9308	ordo_group_of_disorders	lymphoproliferative disorder	http://purl.obolibrary.org/obo/MONDO_0016537	A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis).	UMLS:CN201619|NCIT:C9308|MESH:D008232|ORPHA:238510|DOID:0060704|SNOMEDCT:277466009
UBERON:0001183	inferior mesenteric artery	biolink:AnatomicalEntity	mondo			arteria mesenterica inferior|inferior mesenteric arterial tree|IMA	http://purl.obolibrary.org/obo/UBERON_0001183	Mesenteric artery that supplies the large intestine from the left colic (or splenic) flexure to the upper part of the rectum, which includes the descending colon, the sigmoid colon, and part of the rectum. Proximally, its territory of distribution overlaps (forms a watershed) with the middle colic artery, and therefore the superior mesenteric artery. The SMA and IMA anastomose via the marginal artery (artery of Drummond). The territory of distribution of the IMA is more or less equivalent to the embryonic hindgut. [WP,unvetted].	
MONDO:0016538	hypotonia-cystinuria syndrome type 1	biolink:Disease	mondo	ICD10:E72.0|Orphanet:238517|UMLS:CN226952	ordo_group_of_disorders	hypotonia-cystinuria type 1 syndrome	http://purl.obolibrary.org/obo/MONDO_0016538		ORPHA:238517|UMLS:CN226952
UBERON:0001182	superior mesenteric artery	biolink:AnatomicalEntity	mondo			superior mesenteric arterial tree|arteria mesenterica superior	http://purl.obolibrary.org/obo/UBERON_0001182	Mesenteric artery that supplies the whole length of the small intestine except the superior part of the duodenum. It also supplies the cecum and the ascending part of the colon and about half the transverse part of the colon. It arises from the anterior surface of the aorta below the celiac artery at the level of the first lumbar vertebra.	
MONDO:0016539	atypical hypotonia-cystinuria syndrome	biolink:Disease	mondo	UMLS:CN201620|Orphanet:238523|ICD10:E72.0	ordo_disease	atypical HCS	http://purl.obolibrary.org/obo/MONDO_0016539	Atypical hypotonia-cystinuria syndrome is a form of hypotonia-cystinuria type 1 syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism).	UMLS:CN201620|ORPHA:238523
UBERON:0001185	right renal artery	biolink:AnatomicalEntity	mondo			right renal arterial tree	http://purl.obolibrary.org/obo/UBERON_0001185	Renal artery that supplies the right kidney	
UBERON:0001184	renal artery	biolink:AnatomicalEntity	mondo			arteria renalis|renal arterial tree|renal arteries	http://purl.obolibrary.org/obo/UBERON_0001184	One of two laterally paired arteries that supplies the kidneys. These are large arteries that branch from the dorsal aorta in primitive vertebrates.	
MONDO:0016533	apolipoprotein A-II amyloidosis	biolink:Disease	mondo	Orphanet:238269|ICD10:E85.0|UMLS:CN201610	ordo_clinical_subtype	familial amyloid nephropathy due to apolipoprotein A-II variant|AApoAII amyloidosis|hereditary renal amyloidosis due to apolipoprotein A-II variant|hereditary amyloid nephropathy due to apolipoprotein A-II variant|familial renal amyloidosis due to apolipoprotein A-II variant	http://purl.obolibrary.org/obo/MONDO_0016533		ORPHA:238269|UMLS:CN201610
MONDO:0016534	infundibulo-neurohypophysitis	biolink:Disease	mondo	Orphanet:238305|ICD10:E23.6	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016534		ORPHA:238305
MONDO:0016535	hypohidrotic ectodermal dysplasia	biolink:Disease	mondo	NCIT:C84562|SCTID:239007005|HP:0007607|Orphanet:238468|ICD10:Q82.4|GARD:0000076|DOID:14793	ordo_disease|gard_rare	anhidrotic ectodermal dysplasia 1|HED|ectodermal dysplasia 1, Anhydrotic|hypohidrotic X-linked ectodermal dysplasia|CST syndrome|EDA|anhidrotic ectodermal dysplasia 3|ectodermal dysplasia anhidrotic|anhidrotic ectodermal dysplasia|Christ-Siemens-Touraine syndrome|ectodermal dysplasia, hypohidrotic	http://purl.obolibrary.org/obo/MONDO_0016535	Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency).	ORPHA:238468|DOID:14793|SNOMEDCT:239007005|NCIT:C84562
MONDO:0016536	autosomal recessive lymphoproliferative disease	biolink:Disease	mondo	Orphanet:238505|ICD10:D47.9	ordo_disease	CD27 deficiency	http://purl.obolibrary.org/obo/MONDO_0016536	Autosomal recessive lymphoproliferative disease is a rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterized by persistent symptomatic EBV-viremia and hypogammaglobulinemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, hemophagocytic lymphohistiocytosis, and aplastic anemia.	ORPHA:238505
MONDO:0016530	laryngocele	biolink:Disease	mondo	NCIT:C97062|MESH:D059608|Orphanet:2372|MedDRA:10023885|SCTID:51523009|ICD10:Q31.3|GARD:0003191|UMLS:C0265761|ICD9:748.3	gard_rare|ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0016530	A rare congenital malformation in the larynx. It is characterized by the presence of an air-filled sac within the laryngeal wall which may bulge on the neck.	UMLS:C0265761|NCIT:C97062|MESH:D059608|SNOMEDCT:51523009|ORPHA:2372|MEDDRA:10023885
MONDO:0016531	digestive duplication	biolink:Disease	mondo	Orphanet:238|ICD10:Q45.8	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0016531		ORPHA:238
MONDO:0016532	Lennox-Gastaut syndrome	biolink:Disease	mondo	ICD10:G40.4|GARD:0009912|OMIM:606369|MedDRA:10048816|DOID:0050561|MESH:D065768|SCTID:230418006|Orphanet:2382|UMLS:C0238111|NCIT:C84816	ordo_disease|gard_rare	Lennox syndrome|LGS|macrocephaly and epileptic encephalopathy|epileptic encephalopathy Lennox-Gastaut type|encephalopathy of childhood	http://purl.obolibrary.org/obo/MONDO_0016532	Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies.	MEDDRA:10048816|DOID:0050561|http://identifiers.org/omim/606369|MESH:C535500|MESH:D065768|SNOMEDCT:230418006|NCIT:C84816|UMLS:C0238111|ORPHA:2382
UBERON:0001187	testicular artery	biolink:AnatomicalEntity	mondo			internal spermatic|spermatic vessels|internal spermatic artery|internal spermatic arteries|internal spermatic vessels|spermatic artery|spermatic arteries|arteria testicularis|testicular arterial tree|testicular arteries	http://purl.obolibrary.org/obo/UBERON_0001187	One of a pair of arteries that is a branch of the abdominal aorta that supplies blood to a male gonad.	
UBERON:0001186	left renal artery	biolink:AnatomicalEntity	mondo			left renal arterial tree	http://purl.obolibrary.org/obo/UBERON_0001186	Renal artery that supplies the left kidney	
UBERON:0001189	left testicular artery	biolink:AnatomicalEntity	mondo			trunk of left testicular arterial tree|left spermatic artery	http://purl.obolibrary.org/obo/UBERON_0001189	A testicular artery that supplies a left testicle.	
UBERON:0001188	right testicular artery	biolink:AnatomicalEntity	mondo			trunk of right testicular arterial tree|right spermatic artery	http://purl.obolibrary.org/obo/UBERON_0001188	A testicular artery that supplies a right testicle.	
HGNC:90	ACADS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/90		
MONDO:0004537	intestinal variant cervical mucinous adenocarcinoma	biolink:Disease	mondo	DOID:8339|UMLS:C1516422|NCIT:C40203|ONCOTREE:ICEMU		intestinal type mucinous carcinoma|cervical mucinous adenocarcinoma, intestinal-type|cervical mucinous adenocarcinoma, intestinal variant	http://purl.obolibrary.org/obo/MONDO_0004537	A cervical mucinous adenocarcinoma that resembles the large intestinal adenocarcinoma.	DOID:8339|UMLS:C1516422|NCIT:C40203
UBERON:0013150	future brain vesicle	biolink:AnatomicalEntity	mondo			brain vesicle|secondary brain vesicle|primary brain vesicle|primitive brain vesicle|early brain vesicle	http://purl.obolibrary.org/obo/UBERON_0013150		
UBERON:0013151	choroidal artery	biolink:AnatomicalEntity	mondo			choroid artery|artery of choroid plexus	http://purl.obolibrary.org/obo/UBERON_0013151	One of two arteries (anterior and posterior choroidal artery) that supply blood to the choroid plexus, optic tract, hippocampus, globus pallidus, and other various brain regions.	
MONDO:0004536	obsolete villoglandular variant cervical mucinous adenocarcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004536		
MONDO:0004539	aortic malignant tumor	biolink:Disease	mondo	UMLS:C1334560|NCIT:C5375|DOID:8352		aortic malignant neoplasm|cancer of aorta|malignant aorta neoplasm|aorta cancer|malignant neoplasm of aorta|malignant neoplasm of the aorta|malignant aortic neoplasm|malignant tumor of the aorta|malignant tumor of aorta	http://purl.obolibrary.org/obo/MONDO_0004539	A cancer that involves the aorta.	UMLS:C1334560|NCIT:C5375|DOID:8352
HGNC:92	ACADVL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/92		
MONDO:0004538	endocervical type cervical mucinous adenocarcinoma	biolink:Disease	mondo	DOID:8340|NCIT:C40202|UMLS:C1516421		cervical mucinous adenocarcinoma, endocervical type|cervical adenocarcinoma, endocervical type	http://purl.obolibrary.org/obo/MONDO_0004538	A cervical mucinous adenocarcinoma characterized by the presence of malignant glandular cells that resemble those of the endocervix.	NCIT:C40202|DOID:8340|UMLS:C1516421
HGNC:91	ACADSB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/91		
MONDO:0004533	perineural angioma	biolink:Disease	mondo	NCIT:C6526|UMLS:C1335382|DOID:8331		perineural hemangioma	http://purl.obolibrary.org/obo/MONDO_0004533	A hemangioma arising from perineural tissues.	NCIT:C6526|UMLS:C1335382|DOID:8331
HGNC:94	ACAT2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/94		
MONDO:0004532	auditory system cancer	biolink:Disease	mondo	DOID:833		auditory system cancer|malignant auditory system neoplasm|malignant neoplasm of auditory system|cancer of auditory system	http://purl.obolibrary.org/obo/MONDO_0004532	A malignant neoplasm involving the auditory system	DOID:833
HGNC:93	ACAT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/93		
NCBITaxon:33392	Holometabola	organism taxon	mondo	GC_ID:1		Endopterygota	http://purl.obolibrary.org/obo/NCBITaxon_33392		
MONDO:0004535	childhood choriocarcinoma of the ovary	biolink:Disease	mondo	UMLS:C1332987|DOID:8336|NCIT:C6549		pediatric ovarian choriocarcinoma|pediatric choriocarcinoma of ovary|pediatric choriocarcinoma of the ovary|childhood ovarian choriocarcinoma|pediatric choriocarcinoma of ovary|choriocarcinoma of ovary of childhood|childhood choriocarcinoma of ovary	http://purl.obolibrary.org/obo/MONDO_0004535	A non-gestational choriocarcinoma that arises from the ovary and occurs in children.	UMLS:C1332987|NCIT:C6549|DOID:8336
MONDO:0004534	microglandular adenosis of breast	biolink:Disease	mondo	NCIT:C5199|DOID:8335|UMLS:C1334753		breast microglandular adenosis|microglandular adenosis of the breast	http://purl.obolibrary.org/obo/MONDO_0004534	A rare variant of breast adenosis characterized by the proliferation of small round glands in a collagenous stroma. The epithelial cells are cuboidal and there are no myopepithelial cells present. There is no evidence of atypia.	NCIT:C5199|DOID:8335|UMLS:C1334753
HGNC:95	SLC33A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/95		
UBERON:0013158	foregut-midgut junction gland	biolink:AnatomicalEntity	mondo			gland of foregut-midgut junction	http://purl.obolibrary.org/obo/UBERON_0013158	A gland that is part of a foregut-midgut junction.	
UBERON:0013159	epithalamus mantle layer	biolink:AnatomicalEntity	mondo			mantle layer epithalamus|mantle layer of epithalamus	http://purl.obolibrary.org/obo/UBERON_0013159		
MONDO:0004531	sclerosing adenosis of breast	biolink:Disease	mondo	SCTID:105261000119101|DOID:8310|NCIT:C5205|UMLS:C1335931		sclerosing breast adenosis|sclerosing adenosis of the breast|sclerosing adenosis|breast sclerosing adenosis	http://purl.obolibrary.org/obo/MONDO_0004531	Breast adenosis characterized by the proliferation of acini, a lobulated architectural pattern, and stromal sclerosis. The luminal epithelial and myopepithelial cells are preserved. Microcalcifications and foci of apocrine metaplasia may be present.	SNOMEDCT:105261000119101|NCIT:C5205|DOID:8310|UMLS:C1335931
MONDO:0004530	early invasive cervical adenocarcinoma	biolink:Disease	mondo	NCIT:C36096|DOID:8307|UMLS:C1333369		cervical microinvasive adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004530	A cervical adenocarcinoma with minimal stromal invasion. The risk of local lymph node metastasis is insignificant and the prognosis is excellent.	DOID:8307|NCIT:C36096|UMLS:C1333369
MONDO:0016519	obsolete keratosis follicularis spinulosa decalvans	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016519		
GO:0045058	T cell selection	biolink:OntologyClass	mondo			T-lymphocyte selection|T-cell selection|T lymphocyte selection	http://purl.obolibrary.org/obo/GO_0045058	The process in which T cells that express T cell receptors that are restricted by self MHC protein complexes and tolerant to self antigens are selected for further maturation.	
UBERON:0013156	1st arch mandibular endoderm	biolink:AnatomicalEntity	mondo			endoderm of mandibular component	http://purl.obolibrary.org/obo/UBERON_0013156		
UBERON:0001172	hepatic acinus	biolink:AnatomicalEntity	mondo			portal acinus|liver acinus	http://purl.obolibrary.org/obo/UBERON_0001172	The functional unit of the liver, consisting of a mass of hepatocytes from adjacent liver lobules aligned around the hepatic arterioles and portal venules just as they anastomose into sinusoids.	
MONDO:0016526	trisomy 9p	biolink:Disease	mondo	ICD10:Q92.2|Orphanet:236|UMLS:C0265428	ordo_malformation_syndrome	Duplication of the short arm of chromosome 9|Duplication 9p|trisomy of the short arm of chromosome 9|trisomy type 9p	http://purl.obolibrary.org/obo/MONDO_0016526	Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations.	UMLS:C0265428|ORPHA:236
MONDO:0016527	glycogen storage disease due to lactate dehydrogenase deficiency	biolink:Disease	mondo	GARD:0003159|ICD10:E74.4|Orphanet:2364|MESH:C580233	ordo_disease	lactate dehydrogenase deficiency|glycogenosis due to lactate dehydrogenase deficiency|GSD due to lactate dehydrogenase deficiency|LDH deficiency	http://purl.obolibrary.org/obo/MONDO_0016527		ORPHA:2364|MESH:C580233
UBERON:0001171	portal lobule	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0001171	The triangular region on the periphery of the liver lobules that contain a bile duct and a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel.	
MONDO:0016528	limb body wall complex	biolink:Disease	mondo	SCTID:716106000|Orphanet:2369|UMLS:CN201594|ICD10:Q87.8|GARD:0003251|UMLS:C4274839	ordo_malformation_syndrome|gard_rare	body stalk anomaly|short umbilical cord syndrome|aplasia of the cord|limb-body wall complex|umbilical cord, short|Cyllosomas|LBWC syndrome	http://purl.obolibrary.org/obo/MONDO_0016528	Limb body wall complex (LBWC) is characterized by severe multiple congenital anomalies in the fetus with exencephaly/encephalocele, thoraco- and/or abdominoschisis (anterior body wall defects) and limb defects, with or without facial clefts.	ORPHA:2369|UMLS:C4274839|UMLS:CN201594|SNOMEDCT:716106000
UBERON:0001174	common bile duct	biolink:AnatomicalEntity	mondo			ductus choledochus|ductus choledochus (biliaris)	http://purl.obolibrary.org/obo/UBERON_0001174	the part of the biliary tree formed by the union of the cystic duct and the common hepatic duct	
MONDO:0016529	duplication of urethra	biolink:Disease	mondo	ICD10:Q64.7|GARD:0001975|ICD9:753.8|Orphanet:237|SCTID:69015003	ordo_morphological_anomaly|gard_rare	urethral duplication	http://purl.obolibrary.org/obo/MONDO_0016529	Duplication of the urethra is a rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating.	UMLS:C0266348|ORPHA:237|SNOMEDCT:69015003
UBERON:0001173	biliary tree	biolink:AnatomicalEntity	mondo			biliary tract	http://purl.obolibrary.org/obo/UBERON_0001173	A complex network of conduits that begins with the canals of Hering (intralobar bile duct) and progressively merges into a system of interlobular, septal, and major ducts which then coalesce to form the extrahepatic bile ducts, which finally deliver bile to the intestine, and in some species to the gallbladder.	
MONDO:0016522	Kousseff syndrome	biolink:Disease	mondo	GARD:0004752|MESH:C537223|Orphanet:2351|ICD10:Q87.8|UMLS:C2931444|SCTID:726083008	ordo_malformation_syndrome	sacral meningocele, conotruncal heart defects, and minor anomalies of head and neck|sacral meningocele-conotruncal heart defects syndrome|sacral meningocele conotruncal heart defects	http://purl.obolibrary.org/obo/MONDO_0016522	Kousseff syndrome is characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11.	UMLS:C2931444|SNOMEDCT:726083008|ORPHA:2351|MESH:C537223
MONDO:0016523	bronchogenic cyst (disease)	biolink:Disease	mondo	ICD10:J98.4|Orphanet:2357|HP:0100730|MESH:D001994|MedDRA:10064585|GARD:0001025	ordo_morphological_anomaly	bronchogenic cyst	http://purl.obolibrary.org/obo/MONDO_0016523	Bronchogenic cysts (BCs) are congenital malformations resulting from abnormal budding of the foregut and are most commonly found in the mediastinum.	MEDDRA:10064585|MESH:D001994|UMLS:C0006281|ORPHA:2357
MONDO:0016524	congenital vascular bone syndrome	biolink:Disease	mondo	Orphanet:235832	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016524	An alteration in limb growth caused by congenital vascular malformations in childhood	ORPHA:235832
UBERON:0001170	mesentery of small intestine	biolink:AnatomicalEntity	mondo			mesentery (proper)|mesentery proper|small intestinal mesentery|small intestine mesentery	http://purl.obolibrary.org/obo/UBERON_0001170	The peritoneum responsible for connecting the jejunum and ileum (parts of the small intestine) to the back wall of the abdomen. Between the two sheets of peritoneum are blood vessels, lymph vessels, and nerves. This allows these parts of the small intestine to move relatively freely within the abdominopelvic cavity. The brain, however, cannot map sensation accurately, so sensation is usually referred to the midline, an example of referred pain[WP].	
MONDO:0016525	familial hyperaldosteronism	biolink:Disease	mondo	Orphanet:371861|UMLS:C3713420|MESH:C580087|UMLS:CN229602|SCTID:703231005|ICD10:E26.0|NCIT:C127160|Orphanet:235936|OMIMPS:103900	ordo_group_of_disorders	genetic hyperaldosteronism|hereditary hyperaldosteronism|FH	http://purl.obolibrary.org/obo/MONDO_0016525	Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol.	UMLS:C3713420|NCIT:C127160|MESH:C580087|SNOMEDCT:703231005|ORPHA:235936|ORPHA:371861|UMLS:CN229602
UBERON:0001179	peritoneal cavity	biolink:AnatomicalEntity	mondo			cavitas peritonealis|saccus serosus peritonei	http://purl.obolibrary.org/obo/UBERON_0001179	Anatomical cavity bounded by visceral and parietal peritoneum	
MONDO:0016520	isolated Klippel-Feil syndrome	biolink:Disease	mondo	Orphanet:2345|COHD:433585|ICD10:Q76.1	ordo_malformation_syndrome	Klippel-Feil sequence|congenital cervical vertebral fusion|congenital fused cervical segments|Klippel-Feil malformation|nonsyndromic Klippel-Feil syndrome	http://purl.obolibrary.org/obo/MONDO_0016520	Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.	ORPHA:2345
MONDO:0016521	muscular pseudohypertrophy-hypothyroidism syndrome	biolink:Disease	mondo	ICD10:E03.1|SCTID:716338001|Orphanet:2349	ordo_disease	Kocher-Debré-Semelaigne syndrome|Kocher-DebrC)-Semelaigne syndrome|Hoffman syndrome	http://purl.obolibrary.org/obo/MONDO_0016521	Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism.	SNOMEDCT:716338001|ORPHA:2349
UBERON:0001176	right hepatic duct	biolink:AnatomicalEntity	mondo			ductus hepaticus dexter	http://purl.obolibrary.org/obo/UBERON_0001176	The duct that drains bile from the right half of the liver and joins the left hepatic duct to form the common hepatic duct.	
GO:0070013	intracellular organelle lumen	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0070013	An organelle lumen that is part of an intracellular organelle.	
MONDO:0004529	non-ossifying fibromyxoid tumor	biolink:Disease	mondo	NCIT:C6583|DOID:8305|UMLS:C1335063		nonossifying fibromyxoma|nonossifying fibromyxoid neoplasm|nonossifying fibromyxoid tumor	http://purl.obolibrary.org/obo/MONDO_0004529	A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. Metaplastic bone formation is not present.	NCIT:C6583|UMLS:C1335063|DOID:8305
UBERON:0001175	common hepatic duct	biolink:AnatomicalEntity	mondo			ductus hepaticus communis|hepatic duct	http://purl.obolibrary.org/obo/UBERON_0001175	Predominantly extrahepatic bile duct which is formed by the junction of the right and left hepatic ducts, which are predominantly intrahepatic, and, in turn, joins the cystic duct to form the common bile duct[GAID]. The common hepatic duct is the duct formed by the convergence of the right hepatic duct (which drains bile from the right functional lobe of the liver) and the left hepatic duct (which drains bile from the left functional lobe of the liver). The common hepatic duct then joins the cystic duct coming from the gallbladder to form the common bile duct[WP].	
GO:0070011		biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0070011		
UBERON:0001178	visceral peritoneum	biolink:AnatomicalEntity	mondo			visceral serous membrane of peritoneum	http://purl.obolibrary.org/obo/UBERON_0001178	The inner layer of peritoneum that is wrapped around organs located inside the intraperitoneal space.	
UBERON:0001177	left hepatic duct	biolink:AnatomicalEntity	mondo			ductus hepaticus sinister	http://purl.obolibrary.org/obo/UBERON_0001177	The duct that drains bile from the left half of the liver and joins the right hepatic duct to form the common hepatic duct.	
MONDO:0004548	adult type testicular granulosa cell tumor	biolink:Disease	mondo	NCIT:C39946|UMLS:C1515284|DOID:8394		adult testicular granulosa cell tumor|adult type testicular granulosa cell tumor	http://purl.obolibrary.org/obo/MONDO_0004548	A rare sex cord-stromal tumor that arises from the testis in adults. Gynecomastia is present in approximately a quarter of the patients. Several morphologic patterns have been identified and include insular, gyriform, trabecular, pseudosarcomatous, and solid. Metastases occur in approximately twenty percent of the cases.	DOID:8394|NCIT:C39946|UMLS:C1515284
MONDO:0004547	reticular pattern testicular yolk sac tumor	biolink:Disease	mondo	DOID:8392|NCIT:C39923|UMLS:C1515308		testicular yolk Sac tumor, reticular pattern|testicular yolk Sac tumor, microcystic pattern	http://purl.obolibrary.org/obo/MONDO_0004547	A yolk sac tumor that arises from the testis and is characterized by the presence of a meshwork of small vacuolated cells resulting in a honeycomb appearance.	NCIT:C39923|DOID:8392|UMLS:C1515308
UBERON:0013140	systemic vein	biolink:AnatomicalEntity	mondo			systemic venous tree organ part	http://purl.obolibrary.org/obo/UBERON_0013140	Any vein within the general circulation that transports blood back to the right atrium of the heart.	
MONDO:0004549	cork-handlers' disease	biolink:Disease	mondo	ICD10:J67.3|ICD9:495.3|UMLS:C0152108|DOID:840|SCTID:13394002|COHD:443890		cork-handlers' disease or lung|Suberosis|cork-handlers' lung	http://purl.obolibrary.org/obo/MONDO_0004549	An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia.	SNOMEDCT:13394002|DOID:840|UMLS:C0152108
MONDO:0004544	chordoid meningioma	biolink:Disease	mondo	EFO:1000176|ONCOTREE:CHOM|UMLS:C1370510|DOID:8368|NCIT:C6908		chordoid meningioma|meningioma, chordoid (morphologic abnormality)|CHOM|meningioma, chordoid	http://purl.obolibrary.org/obo/MONDO_0004544	A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma.	UMLS:C1370510|NCIT:C6908|DOID:8368
MONDO:0004543	enteric pattern testicular yolk sac tumor	biolink:Disease	mondo	NCIT:C39932|DOID:8362|UMLS:C1515304		testicular yolk Sac tumor, enteric pattern	http://purl.obolibrary.org/obo/MONDO_0004543	A yolk sac tumor that arises from the testis and is characterized by the presence of immature glands.	DOID:8362|NCIT:C39932|UMLS:C1515304
GO:0045061	thymic T cell selection	biolink:OntologyClass	mondo			thymic T-cell selection|thymic T lymphocyte selection|thymic T-lymphocyte selection	http://purl.obolibrary.org/obo/GO_0045061	The process of T cell selection that occurs in the thymus.	
MONDO:0004546	lumbar plexus neoplasm	biolink:Disease	mondo	UMLS:C1334437|DOID:8389|NCIT:C5824		neoplasm of lumbar plexus|lumbar plexus tumor|tumor of lumbar nerve plexus|lumbar plexus neoplasms|lumbar nerve plexus neoplasm (disease)|tumor of the lumbar plexus|neoplasm of lumbar nerve plexus|lumbar nerve plexus tumor|tumor of lumbar plexus|lumbar nerve plexus neoplasm|neoplasm of the lumbar plexus	http://purl.obolibrary.org/obo/MONDO_0004546	A neoplasm (disease) that involves the lumbar nerve plexus.	DOID:8389|NCIT:C5824|UMLS:C1334437
MONDO:0004545	adult malignant schwannoma	biolink:Disease	mondo	UMLS:C0278622|DOID:8369|NCIT:C7814		malignant peripheral nerve sheath tumor|adult malignant neurilemmoma|adult childhood malignant schwannoma|adult malignant neoplasm of the peripheral nerve sheath|adult malignant schwannoma|adult malignant neoplasm of peripheral nerve sheath|adult malignant peripheral nerve sheath tumor|childhood malignant schwannoma of adults|adult MPNST|adult malignant peripheral nerve sheath neoplasm|adult malignant tumor of the peripheral nerve sheath|adult malignant tumor of peripheral nerve sheath	http://purl.obolibrary.org/obo/MONDO_0004545	A malignant peripheral nerve sheath tumor occurring during adulthood.	UMLS:C0278622|NCIT:C7814|DOID:8369
MONDO:0004540	epithelioid malignant peripheral nerve sheath tumor	biolink:Disease	mondo	NCIT:C6561|DOID:8353|SCTID:404038007|EFO:1000245|UMLS:C1321427		malignant epithelioid neoplasm of the peripheral nerve sheath|malignant epithelioid tumor of the peripheral nerve sheath|malignant epithelioid peripheral nerve sheath neoplasm|malignant epithelioid tumor of peripheral nerve sheath|epithelioid MPNST|malignant epithelioid neoplasm of peripheral nerve sheath|malignant epithelioid peripheral nerve sheath tumor|epithelioid malignant peripheral nerve sheath tumor	http://purl.obolibrary.org/obo/MONDO_0004540	A rare variant of malignant peripheral nerve sheath tumor composed predominantly or exclusively of epithelioid cells.	SNOMEDCT:404038007|NCIT:C6561|DOID:8353|UMLS:C1321427
MONDO:0004542	cervical adenosquamous carcinoma, glassy cell variant	biolink:Disease	mondo	ONCOTREE:CEGCC|GARD:0008437|ICD10:C53.8|ICD10:C53.0|ICD10:C53.1|DOID:8361|NCIT:C40212|MESH:C536823|Orphanet:213833	gard_rare|ordo_disease	glassy cell variant cervical adenosquamous carcinoma|GCC of the cervix|glassy cell carcinoma of the cervix|glassy cell carcinoma of the cervix uteri|cervical adenosquamous carcinoma, glassy cell variant|glassy cell adenocarcinoma of the uterine cervix	http://purl.obolibrary.org/obo/MONDO_0004542	A poorly differentiated variant of adenosquamous carcinoma that arises from the cervix. It is characterized by the presence of large malignant cells with ground glass cytoplasm and stromal eosinophilic infiltrates.	ORPHA:213833|MESH:C536823|DOID:8361|NCIT:C40212
UBERON:0013149	hindbrain vesicle	biolink:AnatomicalEntity	mondo			rhombencephalic vesicle	http://purl.obolibrary.org/obo/UBERON_0013149		
MONDO:0004541	pseudoglandular variant testicular seminoma	biolink:Disease	mondo	DOID:8358|UMLS:C1515293|NCIT:C40958		testicular seminoma, pseudoglandular variant	http://purl.obolibrary.org/obo/MONDO_0004541	A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in pseudoglandular patterns and few lymphocytes.	DOID:8358|UMLS:C1515293|NCIT:C40958
MONDO:0016508	rare non surgically correctable form of primary aldosteronism	biolink:Disease	mondo	UMLS:CN226947|Orphanet:231641	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016508		ORPHA:231641|UMLS:CN226947
MONDO:0016509	microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome	biolink:Disease	mondo	Orphanet:231736|ICD10:Q15.8|UMLS:CN201521|GARD:0010938	ordo_malformation_syndrome	microcornea posterior megalolenticonus persistent fetal vasculature coloboma|MPPC syndrome	http://purl.obolibrary.org/obo/MONDO_0016509		UMLS:CN201521|ORPHA:231736
UBERON:0001161	body of stomach	biolink:AnatomicalEntity	mondo			corpus gastricum|stomach body|corpus gastricum (ventriculare)|corpus ventriculare|gastric corpus|gastric body|corpus ventriculi	http://purl.obolibrary.org/obo/UBERON_0001161	The body of stomach is the part of the stomach that lies between the fundus above and the pyloric antrum below; its boundaries are poorly defined[GO].	
MONDO:0016515	Kallmann syndrome-heart disease syndrome	biolink:Disease	mondo	Orphanet:2326|ICD10:Q24.8|UMLS:CN201538	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0016515	Kallmann syndrome with cardiopathy is characterised by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome.	ORPHA:2326|UMLS:CN201538
UBERON:0001160	fundus of stomach	biolink:AnatomicalEntity	mondo			stomach fundus|fundus gastricus (ventricularis)|fundus ventricularis|fundus gastricus ventricularis|fundus ventriculi|gastric fundus|fundus gastricus	http://purl.obolibrary.org/obo/UBERON_0001160	The fundus is the portion of the stomach that lies above the cardiac notch, and contains the fundic glands[GO, Kardong].	
MONDO:0016516	Kenny-Caffey syndrome	biolink:Disease	mondo	SCTID:82837002|UMLS:C0265291|Orphanet:2333|MESH:C537020|ICD9:759.89|DC:0000549|OMIMPS:127000|NCIT:C130991|ICD10:Q87.1	ordo_malformation_syndrome	Kenny syndrome	http://purl.obolibrary.org/obo/MONDO_0016516	A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia.	ORPHA:2333|MESH:C537020|UMLS:C0265291|NCIT:C130991|SNOMEDCT:82837002
MONDO:0016517	obsolete rare genetic vascular disease	biolink:Disease	mondo	Orphanet:233655|UMLS:CN201558	obsoletion_candidate|ordo_group_of_disorders	rare genetic vascular disease	http://purl.obolibrary.org/obo/MONDO_0016517	Rare genetic vascular disease.	UMLS:CN201558|ORPHA:233655
MONDO:0016518	isolated punctate palmoplantar keratoderma	biolink:Disease	mondo	ICD10:Q82.8|Orphanet:2338	ordo_group_of_disorders	isolated punctate palmoplantar hyperkeratosis|isolated punctate PPK|nonsyndromic punctate palmoplantar keratoderma	http://purl.obolibrary.org/obo/MONDO_0016518	A punctate palmoplantar keratoderma that is not part of a larger syndrome.	ORPHA:2338|UMLS:C1274216
UBERON:0001162	cardia of stomach	biolink:AnatomicalEntity	mondo			cardial orifice|pars cardiaca gastricae|gastric cardia|pars cardiaca (gaster)|cardiac region|cardiac antrum|stomach cardiac region|cardiac orifice|antrum cardiacum|cardial part of stomach	http://purl.obolibrary.org/obo/UBERON_0001162	The part of the stomach attached to the esophagus. The cardia begins immediately distal to the z-line of the gastroeosphageal junction, where the squamous epithelium of the esophagus gives way to the columnar epithelium of the gastrointestinal tract[WP]	
MONDO:0016511	infectious embryofetopathy	biolink:Disease	mondo	Orphanet:232035	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016511		ORPHA:232035
MONDO:0016512	Kabuki syndrome	biolink:Disease	mondo	GARD:0006810|MedDRA:10063935|Orphanet:2322|NCIT:C124837|DOID:0060473|MESH:C537705|ICD10:Q87.0|UMLS:C0796004|OMIMPS:147920|SCTID:313426007	ordo_malformation_syndrome	Kabuki make-up syndrome|NKS|Kabuki make up syndrome|KMS|Niikawa-Kuroki syndrome	http://purl.obolibrary.org/obo/MONDO_0016512	Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.	ORPHA:2322|MESH:C537705|MEDDRA:10063935|SNOMEDCT:313426007|DOID:0060473|UMLS:C0796004|NCIT:C124837
MONDO:0016513	alpha-thalassemia-related diseases	biolink:Disease	mondo	ICD10:D56.0|UMLS:CN201534|Orphanet:232288	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016513	This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS).*	UMLS:CN201534|ORPHA:232288
GO:0070008	serine-type exopeptidase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0070008	Catalysis of the hydrolysis of a peptide bond not more than three residues from the N- or C-terminus of a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine).	
MONDO:0016514	epidermolysis bullosa simplex with anodontia/hypodontia	biolink:Disease	mondo	Orphanet:2325|ICD10:Q81.0	ordo_malformation_syndrome	Kallin syndrome|Gamborg-Nielsen syndrome	http://purl.obolibrary.org/obo/MONDO_0016514		ORPHA:2325|UMLS:C0432313
GO:0070009	serine-type aminopeptidase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0070009	Catalysis of the hydrolysis of a single N-terminal amino acid residue from a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine).	
UBERON:0001169	wall of large intestine	biolink:AnatomicalEntity	mondo			large intestinal wall|large intestine anatomical wall|large intestine wall|anatomical wall of large intestine	http://purl.obolibrary.org/obo/UBERON_0001169	An anatomical wall that is part of a large intestine [Automatically generated definition].	
UBERON:0001168	wall of small intestine	biolink:AnatomicalEntity	mondo			anatomical wall of small intestine|small bowel anatomical wall|small intestine wall|small intestinal wall|anatomical wall of small bowel|small intestine anatomical wall|wall of small bowel|small bowel wall	http://purl.obolibrary.org/obo/UBERON_0001168	An anatomical wall that is part of a small intestine [Automatically generated definition].	
MONDO:0016510	epibulbar lipodermoid-preauricular appendage-polythelia syndrome	biolink:Disease	mondo	Orphanet:231742|UMLS:CN226948	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0016510	Epibulbar lipodermoid B preauricular appendages B polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids.	ORPHA:231742|UMLS:CN226948
UBERON:0001165	pyloric antrum	biolink:AnatomicalEntity	mondo			gastric antrum|stomach pyloric antrum|antrum pylori|antrum of stomach|antrum|stomach antrum|antrum pyloricum|antrum of Willis	http://purl.obolibrary.org/obo/UBERON_0001165	the area at the bottom of the stomach on the caudal side of the pyloric canal that contains gastrin-producing G cells, which stimulate acid production, and the luminal pH-sensitive population of somatostatin-producing D cells	
GO:0070003	threonine-type peptidase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0070003	Catalysis of the hydrolysis of peptide bonds in a polypeptide chain by a mechanism in which the hydroxyl group of a threonine residue at the active center acts as a nucleophile.	
UBERON:0001164	greater curvature of stomach	biolink:AnatomicalEntity	mondo			stomach greater curvature	http://purl.obolibrary.org/obo/UBERON_0001164	The greater curvature of the stomach is directed mainly forward, and is four or five times as long as the lesser curvature. [WP,unvetted].	
UBERON:0001167	wall of stomach	biolink:AnatomicalEntity	mondo			stomach anatomical wall|ventriculus wall|anatomical wall of ventriculus|wall of ventriculus|gastric wall|anatomical wall of stomach|stomach wall|ventriculus anatomical wall	http://purl.obolibrary.org/obo/UBERON_0001167	the layered structure that makes up the stomach, typiclly consists of a serous coat, a muscular coat, a mucous membrane, and other tissue layers in between	
UBERON:0001166	pylorus	biolink:AnatomicalEntity	mondo			pars pylorica|stomach pyloric region|pyloric part of stomach|valvula pylori|pars pylorica gastricae|pyloric region	http://purl.obolibrary.org/obo/UBERON_0001166	the stomach tissue region surrounding and controlling the distal outlet of the stomach, which opens into the duodenum	
UBERON:0003849	mesencephalic neural crest	biolink:AnatomicalEntity	mondo			neural crest midbrain|mesencephalic neural crest	http://purl.obolibrary.org/obo/UBERON_0003849	A neural crest that has_potential_to_developmentally_contribute_to a midbrain.	
UBERON:0003847	thyroid artery	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0003847	A artery that supplies a thyroid gland.	
UBERON:0003848	gonadal vein	biolink:AnatomicalEntity	mondo			vein of gonad|gonada vein|gonad vein|vein of gonada	http://purl.obolibrary.org/obo/UBERON_0003848	In medicine, gonadal vein refers to the blood vessel that carrying blood away from the gonad (testis, ovary) toward the heart. Females : ovarian vein Males : testicular vein [WP,unvetted].	
UBERON:0003845	lower eyelid epithelium	biolink:AnatomicalEntity	mondo			inferior eyelid epithelium|lower eyelid epithelial tissue|epithelial tissue of lower eyelid|epithelium of inferior eyelid|epithelium of lower eyelid|epithelial tissue of inferior eyelid|inferior eyelid epithelial tissue	http://purl.obolibrary.org/obo/UBERON_0003845	An epithelium that is part of a lower eyelid [Automatically generated definition].	
GO:0008206	bile acid metabolic process	biolink:OntologyClass	mondo			bile acid metabolism	http://purl.obolibrary.org/obo/GO_0008206	The chemical reactions and pathways involving bile acids, any of a group of steroid carboxylic acids occurring in bile, where they are present as the sodium salts of their amides with glycine or taurine.	
UBERON:0003846	thymus epithelium	biolink:AnatomicalEntity	mondo			thymus gland epithelium|thymus epithelial tissue|thymic epithelial tissue|epithelial tissue of thymus gland|epithelial tissue of thymus|epithelium of thymus gland|epithelium of thymus|thymic epithelium|thymus gland epithelial tissue	http://purl.obolibrary.org/obo/UBERON_0003846	An epithelium that is part of a thymus, forming a supporting framework[MP,modified].	
GO:0008203	cholesterol metabolic process	biolink:OntologyClass	mondo			cholesterol metabolism	http://purl.obolibrary.org/obo/GO_0008203	The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues.	
GO:0008202	steroid metabolic process	biolink:OntologyClass	mondo			steroid metabolism	http://purl.obolibrary.org/obo/GO_0008202	The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus.	
UBERON:0015834	duodenum lamina propria	biolink:AnatomicalEntity	mondo			lamina propria mucosae of duodenum|lamina propria of duodenum|duodenal lamina propria	http://purl.obolibrary.org/obo/UBERON_0015834	A lamina propria that is part of a duodenum.	
UBERON:0015833	foregut epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015833	A epithelium that is part of a foregut.	
GO:0008200	ion channel inhibitor activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0008200	Stops, prevents, or reduces the activity of an ion channel.	
FOODON:03420174	obsolete: part of plant	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03420174	Anatomical part of a plant, such as fruit, seed, pod, leaf, stem or flower as well as the whole plant.	
FOODON:03420178	seed part	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03420178		
FOODON:03420177	gluten	biolink:OntologyClass	mondo	http://www.langual.org/langual_thesaurus.asp?termid=C0177			http://purl.obolibrary.org/obo/FOODON_03420177	Extract, concentrate or isolate high in gluten, the predominant protein of wheat or corn.	
UBERON:0003854	spinal cord neural plate	biolink:AnatomicalEntity	mondo			neural plate of spinal cord	http://purl.obolibrary.org/obo/UBERON_0003854	A neural plate that develops_from a future spinal cord.	
UBERON:0003855	gonad mesenchyme	biolink:AnatomicalEntity	mondo			mesenchyme of gonada|mesenchyme of gonad|gonada mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003855	Mesenchyme that is part of a developing gonad [Automatically generated definition].	
UBERON:0003852	rhombencephalon neural crest	biolink:AnatomicalEntity	mondo			neural crest hindbrain|rhombomere neural crest|rhombencephalic neural crest	http://purl.obolibrary.org/obo/UBERON_0003852	A neural crest that has_potential_to_developmentally_contribute_to a hindbrain.	
UBERON:0003853	spinal cord neural crest	biolink:AnatomicalEntity	mondo			neural crest spinal cord|spinal neural crest	http://purl.obolibrary.org/obo/UBERON_0003853	A neural crest that has_potential_to_developmentally_contribute_to a spinal cord.	
UBERON:0003850	telencephalon neural crest	biolink:AnatomicalEntity	mondo			neural crest telencephalon	http://purl.obolibrary.org/obo/UBERON_0003850	A neural crest that has_potential_to_developmentally_contribute_to a telencephalon.	
UBERON:0003851	diencephalon neural crest	biolink:AnatomicalEntity	mondo			neural crest diencephalon|diencephalic neural crest|future diencephalon neural crest|neural crest of future diencephalon	http://purl.obolibrary.org/obo/UBERON_0003851	A neural crest that has_potential_to_developmentally_contribute_to a diencephalon.	
UBERON:0003838	abdominal segment connective tissue	biolink:AnatomicalEntity	mondo			textus connectivus of abdominal segment of trunk|abdominal segment of trunk portion of connective tissue|abdominal segment of trunk connective tissue|abdominal segment of trunk textus connectivus|portion of connective tissue of abdominal segment of trunk|connective tissue of abdominal segment of trunk	http://purl.obolibrary.org/obo/UBERON_0003838	A portion of connective tissue that is part of an abdominal segment of trunk [Automatically generated definition].	
UBERON:0003839	forelimb joint	biolink:AnatomicalEntity	mondo			limb joint of superior member|forelimb joint of limb|limb joint of forelimb|superior member limb joint|limb joint of anteriormost limb|limb joint of upper extremity|limb joint of fore limb|joint of free upper limb|superior member joint of limb|forelimb limb joint|anteriormost limb joint of limb|upper extremity joint of limb|joint of limb of forelimb|fore limb joint of limb|joint of limb of superior member|wing joint|joint of limb of upper extremity|joint of limb of anteriormost limb|joint of limb of fore limb|fore limb limb joint|anteriormost limb limb joint|upper extremity limb joint	http://purl.obolibrary.org/obo/UBERON_0003839	A limb joint that is part of a forelimb [Automatically generated definition].	
GO:0008219	cell death	biolink:OntologyClass	mondo			necrosis|accidental cell death	http://purl.obolibrary.org/obo/GO_0008219	Any biological process that results in permanent cessation of all vital functions of a cell. A cell should be considered dead when any one of the following molecular or morphological criteria is met: (1) the cell has lost the integrity of its plasma membrane; (2) the cell, including its nucleus, has undergone complete fragmentation into discrete bodies (frequently referred to as apoptotic bodies). The cell corpse (or its fragments) may be engulfed by an adjacent cell in vivo, but engulfment of whole cells should not be considered a strict criteria to define cell death as, under some circumstances, live engulfed cells can be released from phagosomes (see PMID:18045538).	
UBERON:0003836	abdominal segment skin	biolink:AnatomicalEntity	mondo			skin of abdominal segment of trunk|abdominal segment of trunk skin	http://purl.obolibrary.org/obo/UBERON_0003836	A skin of body that is part of an abdominal segment of trunk [Automatically generated definition].	
UBERON:0003837	thoracic segment connective tissue	biolink:AnatomicalEntity	mondo			thorax textus connectivus|upper body connective tissue|connective tissue of thorax|portion of connective tissue of thorax|thorax portion of connective tissue|textus connectivus of thorax|thorax connective tissue	http://purl.obolibrary.org/obo/UBERON_0003837	A portion of connective tissue that is part of a thorax [Automatically generated definition].	
UBERON:0003834	thoracic segment blood vessel	biolink:AnatomicalEntity	mondo			thorax blood vessel|upper body blood vessel|blood vessel of thorax	http://purl.obolibrary.org/obo/UBERON_0003834	A blood vessel that is part of a thorax [Automatically generated definition].	
UBERON:0003835	abdominal segment blood vessel	biolink:AnatomicalEntity	mondo			blood vessel of abdominal segment of trunk|abdominal segment of trunk blood vessel	http://purl.obolibrary.org/obo/UBERON_0003835	A blood vessel that is part of an abdominal segment of trunk [Automatically generated definition].	
GO:0008211	glucocorticoid metabolic process	biolink:OntologyClass	mondo			glucocorticosteroid metabolism|glucocorticosteroid metabolic process|glucocorticoid metabolism	http://purl.obolibrary.org/obo/GO_0008211	The chemical reactions and pathways involving glucocorticoids, hormonal C21 corticosteroids synthesized from cholesterol. Glucocorticoids act primarily on carbohydrate and protein metabolism, and have anti-inflammatory effects.	
FOODON:03420165	obsolete: fruit or seed	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03420165		
FOODON:03420164	part of animal	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03420164	Anatomical part of an animal; includes eggs and milk that, although separated from the animal, are produced as integral parts and are affected by the animal's food intake and metabolism.	
UBERON:0015814	outer ear epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015814	A epithelium that is part of a external ear.	
UBERON:0015813	middle ear epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015813	A epithelium that is part of a middle ear.	
FOODON:03420167	fruit part	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03420167	The fleshy fruit of any plant. *FRUIT* includes vegetables berries and pods as well. The bulk of a fruit is its fleshy part, which is covered by a peel (skin) and which encloses a core, pit or seeds.	
UBERON:0003843	dental epithelium	biolink:AnatomicalEntity	mondo			tooth epithelium|odontogenic epithelium|reduced enamel epithelium|dental epithelium|dental epithelia	http://purl.obolibrary.org/obo/UBERON_0003843	Epithelium that is part of a developing tooth or dental organ.	
UBERON:0003844	upper eyelid epithelium	biolink:AnatomicalEntity	mondo			superior eyelid epithelial tissue|upper eyelid epithelial tissue|epithelial tissue of upper eyelid|epithelium of upper eyelid|epithelium of superior eyelid|superior eyelid epithelium|epithelial tissue of superior eyelid	http://purl.obolibrary.org/obo/UBERON_0003844	An epithelium that is part of an upper eyelid [Automatically generated definition].	
UBERON:0003841	autopod joint	biolink:AnatomicalEntity	mondo			distal free limb segment joint of limb|limb joint of distal free limb segment|paw joint|autopod joint of limb|joint of limb of autopod|joint of limb of distal free limb segment|autopod limb joint|distal free limb segment limb joint|limb joint of autopod	http://purl.obolibrary.org/obo/UBERON_0003841	A limb joint that is part of an autopod [Automatically generated definition].	
UBERON:0003842	neural tube lumen	biolink:AnatomicalEntity	mondo			lumen of neural tube|central lumen|neurocoel|neural tube neural lumen|prosencoel|neural lumen|cavity of neural tube	http://purl.obolibrary.org/obo/UBERON_0003842	An anatomical space that surrounded_by a neural tube.	
UBERON:0003840	hindlimb joint	biolink:AnatomicalEntity	mondo			joint of limb of inferior member|hindlimb joint of limb|limb joint of hindlimb|joint of limb of hind limb|lower extremity joint of limb|joint of limb of lower extremity|limb joint of inferior member|joint of limb of hindlimb|limb joint of hind limb|lower extremity limb joint|joint of lower limb|hindlimb limb joint|joint of free lower limb|limb joint of lower extremity|hind limb limb joint|inferior member joint of limb|hind limb joint of limb|inferior member limb joint	http://purl.obolibrary.org/obo/UBERON_0003840	A limb joint that is part of a hindlimb [Automatically generated definition].	
UBERON:0003829	urethra muscle tissue	biolink:AnatomicalEntity	mondo			urethral muscle layer	http://purl.obolibrary.org/obo/UBERON_0003829	Any muscle tissue that is part of the urethra.	
UBERON:0003827	thoracic segment bone	biolink:AnatomicalEntity	mondo			upper body bone|bone organ of thorax|bone of thorax|thorax bone organ|thorax bone	http://purl.obolibrary.org/obo/UBERON_0003827	A bone that is part of a thorax [Automatically generated definition].	
UBERON:0003828	abdominal segment bone	biolink:AnatomicalEntity	mondo			bone organ of abdominal segment of trunk|bone of abdominal segment of trunk|abdominal segment of trunk bone organ|abdominal segment of trunk bone	http://purl.obolibrary.org/obo/UBERON_0003828	A bone that is part of an abdominal segment of trunk [Automatically generated definition].	
UBERON:0003825	nerve of abdominal segment	biolink:AnatomicalEntity	mondo			abdominal segment nerve	http://purl.obolibrary.org/obo/UBERON_0003825	A nerve that is part of an abdominal segment of trunk [Automatically generated definition].	
UBERON:0003826	upper leg bone	biolink:AnatomicalEntity	mondo			femur	http://purl.obolibrary.org/obo/UBERON_0003826	A bone that is part of a hindlimb stylopod [Automatically generated definition].	
UBERON:0003823	hindlimb zeugopod	biolink:AnatomicalEntity	mondo			hindlimb epipodium|middle limb segment of hindlimb|middle limb segment of hind limb|posterior part of leg|sura|posterior region of leg|intermediate segment of free lower limb|lower leg|crus of hindlimb|zeugopod of hind limb|regio surae|lower extremity zeugopod|calf of leg|crus|calf|hind limb zeudopodium|hind epipodium|hind limb middle limb segment|regio cruris posterior|hindlimb zeudopodium|hindlimb zeugopod|hindlimb middle limb segment|sural region|leg|shank|hind limb zeugopod|posterior leg region|hindlimb zeugopodium|lower extremity middle limb segment|posterior curral region|zeugopod of hindlimb	http://purl.obolibrary.org/obo/UBERON_0003823	The middle limb segment of the pelvic free limb, between the autopod and stylopod segments. Includes as parts the hindlimb zeugopodial skeleton, which includes as parts the tibia and fibula, or their cartilage precursors, or evolutionary variants.	
UBERON:0003824	nerve of thoracic segment	biolink:AnatomicalEntity	mondo			nerve of thorax|thoracic segment nerve|thorax nerve|upper body nerve	http://purl.obolibrary.org/obo/UBERON_0003824	A nerve that is part of a thorax [Automatically generated definition].	
FOODON:03420194	egg or egg component	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03420194	Poultry, game bird or turtle eggs.	
UBERON:0015807	ear epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015807	A epithelium that is part of a ear.	
UBERON:0015808	eye epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015808	A epithelium that is part of a camera-type eye.	
UBERON:0003832	esophagus muscle	biolink:AnatomicalEntity	mondo			esophageal muscle|muscle organ of oesophagus|muscle organ of gullet|gullet muscle organ|esophagus muscle organ|oesophagus muscle organ|muscle organ of esophagus	http://purl.obolibrary.org/obo/UBERON_0003832	Any muscle organ that is part of a esophagus [Automatically generated definition].	
UBERON:0003833	abdominal segment muscle	biolink:AnatomicalEntity	mondo			muscle organ of abdominal segment of trunk|abdominal segment of trunk muscle organ	http://purl.obolibrary.org/obo/UBERON_0003833	A muscle organ that is part of an abdominal segment of trunk [Automatically generated definition].	
UBERON:0003830	thoracic segment muscle	biolink:AnatomicalEntity	mondo			upper body muscle|muscle organ of thorax|thorax muscle organ	http://purl.obolibrary.org/obo/UBERON_0003830	Any muscle organ that is part of a thorax [Automatically generated definition].	
UBERON:0003831	respiratory system muscle	biolink:AnatomicalEntity	mondo			muscle organ of respiratory system|muscle organ of apparatus respiratorius|respiratory system muscle organ|apparatus respiratorius muscle organ	http://purl.obolibrary.org/obo/UBERON_0003831	Any muscle organ that is part of a respiratory system [Automatically generated definition].	
SO:0000299	specific_recombination_site	biolink:SequenceFeature	mondo			specific recombination site	http://purl.obolibrary.org/obo/SO_0000299	A location where recombination or occurs during mitosis or meiosis.	
SO:0000298	recombination_feature	biolink:SequenceFeature	mondo			INSDC_feature:misc_recomb|recombination feature|INSDC_qualifier:other	http://purl.obolibrary.org/obo/SO_0000298	A feature where there has been exchange of genetic material in the event of mitosis or meiosis	
NCBITaxon:33183	Onygenales	organism taxon	mondo	PMID:17486980|GC_ID:1		Gymnoascales	http://purl.obolibrary.org/obo/NCBITaxon_33183		
CHEBI:24473	halogen	biolink:ChemicalSubstance	mondo			group 17 elements|halogeno|halogen|halogenos|halogens|halogenes|group VII elements|halogene|Halogene	http://purl.obolibrary.org/obo/CHEBI_24473		
CHEBI:24471	halogen molecular entity	biolink:ChemicalSubstance	mondo			halogen molecular entities|halogen compounds|halogen molecular entity	http://purl.obolibrary.org/obo/CHEBI_24471		
UBERON:0003821	metapodium bone	biolink:AnatomicalEntity	mondo			metacarpal/metatarsal bone|metapodium bone|metacarpal/metatarsal|metapodial bone|metacarpal or metatarsal bone|metapodi bone	http://purl.obolibrary.org/obo/UBERON_0003821	A bone of the metapodial skeleton	
UBERON:0003822	forelimb stylopod	biolink:AnatomicalEntity	mondo			stylopod of forelimb|proximal segment of free upper limb|upper arm|regio brachialis|brachium|stylopod of arm|arm|forelimb propodium|brachial region|fore propodium|forelimb stylopodium|forelimb stylopodial element|wing stylopod	http://purl.obolibrary.org/obo/UBERON_0003822	The part of the forelimb between pectoral region and the elbow, corresponding to the humerus.	
UBERON:0003820	prostate bud	biolink:AnatomicalEntity	mondo			prostate gland bud|prostate primordium|prostatic bud|prostate ductal progenitor	http://purl.obolibrary.org/obo/UBERON_0003820	A region of the fetal urogenital sinus epithelium destined to become the prostate[GO].	
UBERON:0015870	lymph node of head	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015870	A lymph node that is part of a head.	
UBERON:0001228	renal papilla	biolink:AnatomicalEntity	mondo			kidney papilla	http://purl.obolibrary.org/obo/UBERON_0001228	Tip of renal pyramid projecting into a minor calyx.	
UBERON:0003889	fallopian tube	biolink:AnatomicalEntity	mondo			mammalian oviduct|tuba uterina|paramesonephric duct of female|uterine tube (sensu Mammalia)|female paramesonephric duct|salpinx|fallopian tubes|salpinges	http://purl.obolibrary.org/obo/UBERON_0003889	Initial section of the oviduct through which the ova pass from the ovary to the uterus	
UBERON:0001229	renal corpuscle	biolink:AnatomicalEntity	mondo			kidney corpuscle|Malphigian corpuscle|corpusculum renis|cortical renal corpuscle|Malpighian corpuscle|corpusculum renale	http://purl.obolibrary.org/obo/UBERON_0001229	the structure containing the glomerular capsule and the glomerulus that serves as the initial blood-filtering component of a nephron	
UBERON:0015875	heel	biolink:AnatomicalEntity	mondo			calcaneal region|regio calcanea|heel region	http://purl.obolibrary.org/obo/UBERON_0015875	The part of the foot that is the projection of the calcaneus.	
UBERON:0015871	facial lymph node	biolink:AnatomicalEntity	mondo			buccal lymph node	http://purl.obolibrary.org/obo/UBERON_0015871	Any of the lymph nodes that are part of a face.	
UBERON:0015873	heel skin	biolink:AnatomicalEntity	mondo			skin of heel	http://purl.obolibrary.org/obo/UBERON_0015873	A zone of skin that is part of a heel.	
NCBITaxon:82105	Cladophialophora	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_82105		
UBERON:0003890	Mullerian duct	biolink:AnatomicalEntity	mondo			early paramesonephric duct|paramesonephric duct|Müllerian duct|ductus paramesonephricus|Muellerian duct	http://purl.obolibrary.org/obo/UBERON_0003890	paired ducts of the embryo that run down the lateral sides of the urogenital ridge and terminate at the mullerian eminence in the primitive urogenital sinus. In the female, they will develop to form the fallopian tubes, uterus, and the upper portion of the vagina; in the male, they are lost. These ducts are made of tissue of mesodermal origin[WP]. develops either by lengthwise splitting of the archinephric duct (in chondrichthyans and some amphibians) or by a elongated invagination of the coelomic epithelium (other vertebrates) In males, the oviducts regress. The cranial end of the oviduct maintains an opening into the coelom (which primitively may have been the anteriormost coelomic funnels connecting the nephrocoel with the coelom). This opening is the ostium tubae[USM].	
UBERON:0003891	stroma	biolink:AnatomicalEntity	mondo			stromal connective tissue	http://purl.obolibrary.org/obo/UBERON_0003891	Connective, non-functional supportive framework of a biological cell, tissue, or organ. Contrast with parenchyma.	
UBERON:0001235	adrenal cortex	biolink:AnatomicalEntity	mondo			suprarenal cortex|cortex (glandula suprarenalis)|cortex of suprarenal gland|suprarenal|cortex glandulae suprarenalis|adrenal gland cortex|cortex of adrenal gland	http://purl.obolibrary.org/obo/UBERON_0001235	the thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone	
UBERON:0003898	skeletal muscle tissue of trunk	biolink:AnatomicalEntity	mondo			skeletal muscle of torso|skeletal muscle tissue of trunk|skeletal muscle tissue of torso|trunk skeletal muscle|torso skeletal muscle|torso skeletal muscle tissue|trunk skeletal muscle tissue	http://purl.obolibrary.org/obo/UBERON_0003898	A portion of skeletal muscle tissue in the trunk.	
UBERON:0001234	left adrenal gland	biolink:AnatomicalEntity	mondo			left suprarenal gland|glandula suprarenalis sinister	http://purl.obolibrary.org/obo/UBERON_0001234	An adrenal gland that is in the left side of the abdomen	
UBERON:0001236	adrenal medulla	biolink:AnatomicalEntity	mondo			chromaffin cells|medulla of glandula suprarenalis|medulla of adrenal gland|suprarenal medulla|medulla (glandula suprarenalis)|medulla glandulae suprarenalis|adrenal gland medulla|medulla of suprarenal gland|adrenal central medulla	http://purl.obolibrary.org/obo/UBERON_0001236	the inner portion of the adrenal gland that consists mainly of chromaffin cells which produce, store and secrete neurotransmitters such as epinephrine and norepinephrine	
UBERON:0003897	axial muscle	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0003897	One of the skeletal muscles of the head and neck, spine, and ribs.	
UBERON:0001231	nephron tubule	biolink:AnatomicalEntity	mondo			uriniferous tubule|tubulus renalis|kidney tubule|renal tubule	http://purl.obolibrary.org/obo/UBERON_0001231	An epithelial tube that is part of the nephron, the functional part of the kidney.	
UBERON:0003894	liver primordium	biolink:AnatomicalEntity	mondo			liver endoderm|liver bud|hepatic plate|embryological hepatic plate|primordium of the liver	http://purl.obolibrary.org/obo/UBERON_0003894	A small endodermal thickening in the foregut adjacent to the transverse septum. Invaginates forming the hepatic diverticulum.	
UBERON:0001230	glomerular capsule	biolink:AnatomicalEntity	mondo			capsula glomeruli|Muellerian capsule|Bowman's capsule|Mueller capsule|Malphigian capsule|pronephric glomerular capsule|Bowmans capsule|renal glomerular capsule|Malpighian capsule|Bowman's capsule|capsula glomerularis	http://purl.obolibrary.org/obo/UBERON_0001230	A cup-like sac at the expanded beginning of a tubular component of a nephron that contains the glomerulus	
UBERON:0001233	right adrenal gland	biolink:AnatomicalEntity	mondo			right suprarenal gland|glandula suprarenalis dexter	http://purl.obolibrary.org/obo/UBERON_0001233	An adrenal gland that is in the right side of the abdomen	
UBERON:0001232	collecting duct of renal tubule	biolink:AnatomicalEntity	mondo			ureteric tree|tubulus renalis colligens|kidney collecting duct|arcuate renal tubule|collecting tubule|junctional tube|collecting duct system|tubulus renalis arcuatus|kidney collecting tubule|renal collecting tubule|collecting duct	http://purl.obolibrary.org/obo/UBERON_0001232	The collecting duct is a portion of the nephron through which water flows, moving passively down its concentration gradient	
UBERON:0003893	capsule	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0003893	A cover or envelope partly or wholly surrounding a structure. Examples: egg shell, articular capsules, renal capsules[WP].	
UBERON:0001217	ileal vein	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0001217	The veins that drain blood from the ileum into the superior mesenteric vein.	
UBERON:0001216	jejunal vein	biolink:AnatomicalEntity	mondo			venae jejunales	http://purl.obolibrary.org/obo/UBERON_0001216	A tributary of the superior mesenteric vein that drains the jejunum.	
CHEBI:48407	antiparkinson drug	biolink:ChemicalSubstance	mondo			antiparkinson agent	http://purl.obolibrary.org/obo/CHEBI_48407	A drug used in the treatment of Parkinson's disease.	
UBERON:0001219	ileocolic vein	biolink:AnatomicalEntity	mondo			vena ileocolica	http://purl.obolibrary.org/obo/UBERON_0001219	The ileocolic vein is a vein which drains the ileum, colon, and cecum. [WP,unvetted].	
UBERON:0001218	middle colic vein	biolink:AnatomicalEntity	mondo			vena colica media|vena colica media (intermedia)	http://purl.obolibrary.org/obo/UBERON_0001218	The middle colic vein drains the transverse colon. It is a tributary of the superior mesenteric vein, and follows the path of its corresponding artery, the middle colic artery. [WP,unvetted].	
GO:0045202	synapse	biolink:OntologyClass	mondo			synaptic junction|mixed synapse|electrotonic synapse	http://purl.obolibrary.org/obo/GO_0045202	The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane.	
GO:0047865	dimethylglycine dehydrogenase activity	biolink:OntologyClass	mondo			N,N-dimethylglycine:(acceptor) oxidoreductase (demethylating)|N,N-dimethylglycine:acceptor oxidoreductase (demethylating)|N,N-dimethylglycine oxidase activity	http://purl.obolibrary.org/obo/GO_0047865	Catalysis of the reaction: N,N-dimethylglycine + electron-transfer flavoprotein + H2O = sarcosine + formaldehyde + reduced electron-transfer flavoprotein.	
UBERON:0015860	visceral abdominal lymph node	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015860		
FOODON:03420122	nonmeat part of animal	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03420122	Bone, feathers, shell, skin or trim fat.	
UBERON:0003887	intraembryonic coelom	biolink:AnatomicalEntity	mondo			somatic coelom	http://purl.obolibrary.org/obo/UBERON_0003887	The part of the coelom in the embryo between the somatopleuric and splanchnopleuric mesoderm; the principal body cavities of the trunk (thoracic, abdominal, and pelvic) arise from this embryonic part of the coelom	
UBERON:0001224	renal pelvis	biolink:AnatomicalEntity	mondo			pyelum|kidney pelvis|p. renallis|pelvis of ureter	http://purl.obolibrary.org/obo/UBERON_0001224	A funnel shaped proximal portion of the ureter that is formed by convergence of the major calices [MP].	
UBERON:0001223	left ureter	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0001223	An ureter that is part of a left side of organism [Automatically generated definition].	
UBERON:0003885	mesometrium	biolink:AnatomicalEntity	mondo			mesentery of uterus	http://purl.obolibrary.org/obo/UBERON_0003885	A mesentery that is part of a uterus [Automatically generated definition].	
FOODON:03420127	animal body or body part	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03420127	Includes carcass meat, organ meat, and nonmeat parts of animals, as well as the whole animal.	
UBERON:0001225	cortex of kidney	biolink:AnatomicalEntity	mondo			renal cortex|kidney cortex|cortex renalis	http://purl.obolibrary.org/obo/UBERON_0001225	Outer cortical portion of the kidney, between the renal capsule and the renal medulla.	
UBERON:0003886	future coelemic cavity lumen	biolink:AnatomicalEntity	mondo			body cavity precursor	http://purl.obolibrary.org/obo/UBERON_0003886	An anatomical cavity that has the potential to develop into a coelemic cavity lumen.	
UBERON:0001222	right ureter	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0001222	An ureter that is part of a right side of organism [Automatically generated definition].	
UBERON:0001209	serosa of large intestine	biolink:AnatomicalEntity	mondo			visceral peritoneum of large intestine|large intestine serous membrane|large intestine serosa|serous coat of large intestine|tunica serosa intestini crassi|serous membrane of large intestine|large intestinal serosa	http://purl.obolibrary.org/obo/UBERON_0001209	A serous membrane that is part of a large intestine [Automatically generated definition].	
GO:1901706	mesenchymal cell differentiation involved in bone development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1901706	The process in which relatively unspecialized cells acquire specialized structural and/or functional features that characterize the mesenchymal cells of bone as it progresses from its formation to the mature state.	
UBERON:0001206	serosa of small intestine	biolink:AnatomicalEntity	mondo			small bowel serous membrane|small intestinal serosa|small intestine serosa|tunica serosa (intestinum tenue)|visceral peritoneum of small intestine|serous membrane of small bowel|small intestine serous membrane|small bowel serosa|serous coat of small intestine|serosa of small bowel|tunica serosa intestini tenuis|serous membrane of small intestine	http://purl.obolibrary.org/obo/UBERON_0001206	A serous membrane that is part of a small intestine [Automatically generated definition].	
UBERON:0003869	presumptive ganglion	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0003869	A presumptive structure that has the potential to develop into a ganglion.	
UBERON:0001205	submucosa of small intestine	biolink:AnatomicalEntity	mondo			tela submucosa intestini tenuis|submucosa of small bowel|small bowel submucosa|tela submucosa (intestinum tenue)|small intestinal submucosa|small intestine submucosa	http://purl.obolibrary.org/obo/UBERON_0001205	submucosal tissue in the small intestines.	
UBERON:0003867	distal phalanx of pes	biolink:AnatomicalEntity	mondo			ungual phalanx of hindlimb|phalanx distalis pedis|foot distal phalanx|terminal phalanx of foot|distal phalanx of toe|terminal phalanx of hindlimb|distal pedal phalanx|ungual phalanx of foot|distal phalanx of foot	http://purl.obolibrary.org/obo/UBERON_0003867	A distal phalanx that is part of a pedal digit [Automatically generated definition].	
UBERON:0001208	submucosa of large intestine	biolink:AnatomicalEntity	mondo			large intestinal submucosa|large intestine submucosa|submucous layer of large intestine|tela submucosa intestini crassi	http://purl.obolibrary.org/obo/UBERON_0001208	A submucosa that is part of a large intestine [Automatically generated definition].	
GO:1901701	cellular response to oxygen-containing compound	biolink:OntologyClass	mondo			cellular response to oxygen molecular entity	http://purl.obolibrary.org/obo/GO_1901701	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen-containing compound stimulus.	
UBERON:0001207	mucosa of large intestine	biolink:AnatomicalEntity	mondo			large intestine mucosa|large intestine organ mucosa|organ mucosa of large intestine|mucous membrane of large intestine|large intestine mucosa of organ|large intestinal mucosa|mucosa of organ of large intestine|large intestine mucous membrane|tunica mucosa intestini crassi	http://purl.obolibrary.org/obo/UBERON_0001207	A mucosa that is part of a large intestine [Automatically generated definition].	
UBERON:0003868	proximal phalanx of pes	biolink:AnatomicalEntity	mondo			proximal pedal phalanx|proximal phalanx of foot|proximal phalanx of foot digit|phalanx proximalis pedis|foot proximal phalanx|proximal phalanx of pes|proximal phalanx of toe|proximal phalanx of hind digit	http://purl.obolibrary.org/obo/UBERON_0003868	A proximal phalanx that is part of a pedal digit [Automatically generated definition].	
GO:1901700	response to oxygen-containing compound	biolink:OntologyClass	mondo			response to oxygen molecular entity	http://purl.obolibrary.org/obo/GO_1901700	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen-containing compound stimulus.	
GO:0045211	postsynaptic membrane	biolink:OntologyClass	mondo			post-synaptic membrane	http://purl.obolibrary.org/obo/GO_0045211	A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane.	
GO:0060850	obsolete regulation of transcription involved in cell fate commitment	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060850	OBSOLETE. Any process that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter that contributes to the commitment of a cell to a specific fate.	
FOODON:03420155	obsolete: seed (anatomical part)	biolink:OntologyClass	mondo			seed	http://purl.obolibrary.org/obo/FOODON_03420155	The main propagative part of a plant, especially the kernel of a grain or nut. The bulk of the seed is formed by the endosperm, which encloses the germ and is covered by skin (bran).	
UBERON:0001213	intestinal villus	biolink:AnatomicalEntity	mondo			enteric villous|small intestine villus|villi intestinales|enteric villi|intestinal villus layer|villus|villus intestinalis (intestinum tenue)|enteric villus|villi intestinales|intestinal villi	http://purl.obolibrary.org/obo/UBERON_0001213	the tiny hair-like projections that protrude from the inside of the small intestine that contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; the villi increase the absorptive surface area of the small intestine by approximately 30-fold	
UBERON:0001212	duodenal gland	biolink:AnatomicalEntity	mondo			glandula duodenales|gland of Brunner|glandula duodenales Brunneri|Brunner's gland|submucosal gland of duodenum	http://purl.obolibrary.org/obo/UBERON_0001212	A compound tubular submucosal gland found in that portion of the duodenum which is above the hepatopancreatic sphincter (Sphincter of Oddi). The main function of these glands is to produce a mucus-rich alkaline secretion (containing bicarbonate)[WP].	
UBERON:0001215	inferior mesenteric vein	biolink:AnatomicalEntity	mondo			vena mesenterica inferior|lower mesenteric vein	http://purl.obolibrary.org/obo/UBERON_0001215	A blood vessel that drains blood from the large intestine that usually terminates when reaching the splenic vein, which goes on to form the portal vein with the superior mesenteric vein (SMV). Anatomical variations include the IMV draining into the confluence of the SMV and splenic vein and the IMV draining in the SMV. The IMV lies to the right of the similarly name artery, the inferior mesenteric artery, which originates from the abdominal aorta. [WP,unvetted].	
CHEBI:24433	group	biolink:ChemicalSubstance	mondo			groupe|Rest|group|Gruppe|grupos|grupo	http://purl.obolibrary.org/obo/CHEBI_24433	A defined linked collection of atoms or a single atom within a molecular entity.	
GO:1901716	negative regulation of gamma-aminobutyric acid catabolic process	biolink:OntologyClass	mondo			inhibition of GABA catabolic process|down-regulation of gamma-aminobutyric acid catabolic process|negative regulation of 4-aminobutyrate catabolism|down-regulation of 4-aminobutyrate catabolism|inhibition of 4-aminobutyrate catabolic process|down regulation of gamma-aminobutyric acid catabolism|downregulation of 4-aminobutanoate catabolism|downregulation of 4-aminobutanoate catabolic process|downregulation of gamma-aminobutyric acid breakdown|inhibition of gamma-aminobutyric acid degradation|down regulation of gamma-aminobutyric acid catabolic process|inhibition of 4-aminobutyrate catabolism|negative regulation of 4-aminobutyrate catabolic process|negative regulation of gamma-aminobutyric acid catabolism|down-regulation of gamma-aminobutyric acid catabolism|down-regulation of 4-aminobutyrate catabolic process|inhibition of GABA catabolism|downregulation of GABA catabolic process|down regulation of 4-aminobutanoate catabolic process|inhibition of gamma-aminobutyric acid catabolic process|downregulation of gamma-aminobutyric acid catabolic process|inhibition of 4-aminobutanoate catabolism|negative regulation of gamma-aminobutyric acid degradation|down-regulation of gamma-aminobutyric acid degradation|down regulation of 4-aminobutyrate catabolic process|inhibition of gamma-aminobutyric acid catabolism|negative regulation of GABA catabolism|down-regulation of GABA catabolism|inhibition of gamma-aminobutyric acid breakdown|downregulation of 4-aminobutyrate catabolism|negative regulation of 4-aminobutanoate catabolic process|down-regulation of 4-aminobutanoate catabolic process|down regulation of GABA catabolic process|down regulation of gamma-aminobutyric acid degradation|down regulation of GABA catabolism|negative regulation of 4-aminobutanoate catabolism|down-regulation of 4-aminobutanoate catabolism|downregulation of 4-aminobutyrate catabolic process|down-regulation of gamma-aminobutyric acid breakdown|negative regulation of GABA catabolic process|down-regulation of GABA catabolic process|negative regulation of gamma-aminobutyric acid breakdown|downregulation of gamma-aminobutyric acid catabolism|inhibition of 4-aminobutanoate catabolic process|down regulation of 4-aminobutyrate catabolism|down regulation of 4-aminobutanoate catabolism|downregulation of gamma-aminobutyric acid degradation|down regulation of gamma-aminobutyric acid breakdown|downregulation of GABA catabolism	http://purl.obolibrary.org/obo/GO_1901716	Any process that stops, prevents or reduces the frequency, rate or extent of gamma-aminobutyric acid catabolic process.	
CHEBI:24432	biological role	biolink:ChemicalSubstance	mondo			biological function	http://purl.obolibrary.org/obo/CHEBI_24432	A role played by the molecular entity or part thereof within a biological context.	
GO:1901717	positive regulation of gamma-aminobutyric acid catabolic process	biolink:OntologyClass	mondo			upregulation of gamma-aminobutyric acid catabolic process|positive regulation of GABA catabolic process|upregulation of 4-aminobutyrate catabolism|positive regulation of 4-aminobutyrate catabolic process|up regulation of gamma-aminobutyric acid degradation|up regulation of GABA catabolism|up regulation of GABA catabolic process|up-regulation of 4-aminobutanoate catabolic process|up-regulation of 4-aminobutanoate catabolism|positive regulation of gamma-aminobutyric acid degradation|activation of gamma-aminobutyric acid catabolism|up-regulation of gamma-aminobutyric acid breakdown|positive regulation of GABA catabolism|upregulation of gamma-aminobutyric acid catabolism|positive regulation of 4-aminobutyrate catabolism|upregulation of 4-aminobutyrate catabolic process|activation of 4-aminobutyrate catabolic process|up-regulation of GABA catabolic process|up regulation of 4-aminobutanoate catabolism|up regulation of 4-aminobutyrate catabolism|up regulation of gamma-aminobutyric acid breakdown|positive regulation of 4-aminobutanoate catabolism|upregulation of gamma-aminobutyric acid degradation|up-regulation of gamma-aminobutyric acid catabolic process|activation of gamma-aminobutyric acid degradation|upregulation of GABA catabolism|positive regulation of gamma-aminobutyric acid breakdown|positive regulation of gamma-aminobutyric acid catabolism|activation of 4-aminobutanoate catabolic process|upregulation of 4-aminobutanoate catabolic process|activation of GABA catabolism|up-regulation of 4-aminobutyrate catabolism|up regulation of gamma-aminobutyric acid catabolism|up regulation of gamma-aminobutyric acid catabolic process|upregulation of 4-aminobutanoate catabolism|activation of GABA catabolic process|up-regulation of 4-aminobutyrate catabolic process|activation of 4-aminobutanoate catabolism|activation of gamma-aminobutyric acid catabolic process|upregulation of GABA catabolic process|upregulation of gamma-aminobutyric acid breakdown|up-regulation of gamma-aminobutyric acid catabolism|positive regulation of 4-aminobutanoate catabolic process|activation of gamma-aminobutyric acid breakdown|up regulation of 4-aminobutyrate catabolic process|up-regulation of gamma-aminobutyric acid degradation|activation of 4-aminobutyrate catabolism|up-regulation of GABA catabolism|up regulation of 4-aminobutanoate catabolic process	http://purl.obolibrary.org/obo/GO_1901717	Any process that activates or increases the frequency, rate or extent of gamma-aminobutyric acid catabolic process.	
CHEBI:24431	chemical entity	biolink:ChemicalSubstance	mondo			chemical entity	http://purl.obolibrary.org/obo/CHEBI_24431	A chemical entity is a physical entity of interest in chemistry including molecular entities, parts thereof, and chemical substances.	
UBERON:0003858	lower eyelid mesenchyme	biolink:AnatomicalEntity	mondo			inferior eyelid mesenchyme|mesenchyme of inferior eyelid|mesenchyme of lower eyelid	http://purl.obolibrary.org/obo/UBERON_0003858	Mesenchyme that is part of a developing lower eyelid [Automatically generated definition].	
GO:1901715	regulation of gamma-aminobutyric acid catabolic process	biolink:OntologyClass	mondo			regulation of 4-aminobutanoate catabolism|regulation of gamma-aminobutyric acid breakdown|regulation of 4-aminobutanoate catabolic process|regulation of GABA catabolic process|regulation of 4-aminobutyrate catabolic process|regulation of 4-aminobutyrate catabolism|regulation of gamma-aminobutyric acid degradation|regulation of GABA catabolism|regulation of gamma-aminobutyric acid catabolism	http://purl.obolibrary.org/obo/GO_1901715	Any process that modulates the frequency, rate or extent of gamma-aminobutyric acid catabolic process.	
UBERON:0003859	forelimb mesenchyme	biolink:AnatomicalEntity	mondo			superior member mesenchyme|mesenchyme of forelimb|mesenchyme of superior member|mesenchyme of anteriormost limb|mesenchyme of upper extremity|mesenchyme of fore limb|fore limb mesenchyme|wing mesenchyme|anteriormost limb mesenchyme|upper extremity mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003859	Mesenchyme that is part of a developing forelimb [Automatically generated definition].	
UBERON:0003856	uncondensed odontogenic mesenchyme	biolink:AnatomicalEntity	mondo			enamel organ mesenchyme|dental mesenchyme|dental organ mesenchyme|tooth enamel organ mesenchyme|tooth mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003856	Mesenchyme enclosed by a dental organ that gives rise to an odontogenic papilla.	
UBERON:0003857	upper eyelid mesenchyme	biolink:AnatomicalEntity	mondo			mesenchyme of upper eyelid|mesenchyme of superior eyelid|superior eyelid mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003857	Mesenchyme that is part of a developing upper eyelid [Automatically generated definition].	
GO:0060840	artery development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060840	The progression of the artery over time, from its initial formation to the mature structure. An artery is a blood vessel that carries blood away from the heart to a capillary bed.	
GO:0060841	venous blood vessel development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060841	The progression of the venous blood vessel over time from its initial formation to the mature structure. Venous blood vessels carry blood back to the heart after the capillary bed.	
GO:0045229	external encapsulating structure organization	biolink:OntologyClass	mondo			external encapsulating structure organization and biogenesis|external encapsulating structure organisation	http://purl.obolibrary.org/obo/GO_0045229	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of external structures that lie outside the plasma membrane and surround the entire cell.	
FOODON:03420144	plant above surface, excluding fruit and seed	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03420144		
UBERON:0003865	distal phalanx of manus	biolink:AnatomicalEntity	mondo			distal manual phalanx|terminal phalanx of hand|phalanx distalis manus|distal phalanx of finger|hand distal phalanx|distal phalanx of manual digit|ungual phalanx of hand|distal phalanx of hand	http://purl.obolibrary.org/obo/UBERON_0003865	A distal phalanx that is part of a finger [Automatically generated definition].	
UBERON:0001202	pyloric sphincter	biolink:AnatomicalEntity	mondo			pyloric valve	http://purl.obolibrary.org/obo/UBERON_0001202	A strong ring of smooth muscle at the end of the pyloric canal which lets food pass from the stomach to the duodenum. It receives sympathetic innervation from the celiac ganglion[WP].	
UBERON:0001201	serosa of stomach	biolink:AnatomicalEntity	mondo			anatomical wall of stomach serous membrane|serosa of anatomical wall of stomach|serosa of ventriculus anatomical wall|serous membrane of ventriculus wall|serous coat of stomach|serous membrane of anatomical wall of ventriculus|ventriculus anatomical wall serosa|wall of stomach serous membrane|serous membrane of wall of ventriculus|stomach wall serosa|ventriculus anatomical wall serous membrane|stomach wall serous membrane|wall of stomach serosa|serosa of stomach wall|tunica serosa gastricae|serous membrane of gastric wall|serosa of stomach anatomical wall|gastric serosa|tunica serosa (gaster)|stomach serosa|anatomical wall of stomach serosa|serous membrane of anatomical wall of stomach|serous membrane of wall of stomach|gastric wall serosa|serosa of ventriculus wall|ventriculus wall serous membrane|stomach anatomical wall serous membrane|serous membrane of ventriculus anatomical wall|wall of ventriculus serosa|visceral peritoneum of stomach|serosa of wall of ventriculus|serosa of anatomical wall of ventriculus|serous membrane of stomach wall|anatomical wall of ventriculus serous membrane|anatomical wall of ventriculus serosa|wall of ventriculus serous membrane|stomach anatomical wall serosa|serosa of gastric wall|ventriculus wall serosa|serous membrane of stomach anatomical wall|gastric wall serous membrane|serosa of wall of stomach	http://purl.obolibrary.org/obo/UBERON_0001201	the outermost layer of the stomach wall, consisting of layers of connective tissue continuous with the peritoneum	
UBERON:0003866	middle phalanx of pes	biolink:AnatomicalEntity	mondo			middle pedal phalanx|phalanx media pedis|middle phalanx of foot|middle phalanx of toe|foot middle phalanx	http://purl.obolibrary.org/obo/UBERON_0003866	A middle phalanx that is part of a toe [Automatically generated definition].	
UBERON:0003863	pedal digit 5 phalanx	biolink:AnatomicalEntity	mondo			foot digit 5 long bone of digit|phalanx of fifth digit of foot|little toe phalanx|foot digit 5 phalanx|foot digit 5 digit long bone|hind limb digit 5 phalanx|long bone of digit of foot digit 5|pedal digit V phalanx|phalanx of foot digit 5|phalanx of little toe|phalanx of fifth toe|digit long bone of foot digit 5|foot digit 5 phalanx	http://purl.obolibrary.org/obo/UBERON_0003863	A phalanx that is part of a foot digit 5 [Automatically generated definition].	
UBERON:0001204	mucosa of small intestine	biolink:AnatomicalEntity	mondo			organ mucosa of small bowel|mucous membrane of small bowel|small bowel mucosa of organ|mucosa of small bowel|tunica mucosa intestini tenuis|small bowel mucosa|mucosa of organ of small bowel|small bowel organ mucosa|small bowel mucous membrane|tunica mucosa (intestinum tenue)|mucous membrane of small intestine|small intestine mucosa of organ|organ mucosa of small intestine|small intestine mucosa|small intestinal mucosa|small intestine organ mucosa|mucosa of organ of small intestine|small intestine mucous membrane	http://purl.obolibrary.org/obo/UBERON_0001204	A mucosa that is part of a small intestine [Automatically generated definition].	
UBERON:0003864	middle phalanx of manus	biolink:AnatomicalEntity	mondo			middle phalanx of manual digit|middle manual phalanx|middle phalanx of hand|phalanx media manus|middle phalanx of finger|hand middle phalanx	http://purl.obolibrary.org/obo/UBERON_0003864	A middle phalanx that is part of a finger [Automatically generated definition].	
FOODON:03420148	root, stem, leaf or flower	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03420148	The parts of a plant that are not fruit or seed.	
UBERON:0001200	submucosa of stomach	biolink:AnatomicalEntity	mondo			stomach submucosa|submucous layer of stomach|gastric submucosa|tela submucosa (gaster)|submucosa of ventriculus|tela submucosa ventriculi|ventriculus submucosa|tela submucosa gastricae	http://purl.obolibrary.org/obo/UBERON_0001200	the fibrous connective tissue layer beneath the stomach mucosa	
UBERON:0003860	hindlimb mesenchyme	biolink:AnatomicalEntity	mondo			mesenchyme of hindlimb|mesenchyme of hind limb|mesenchyme of lower extremity|lower extremity mesenchyme|hind limb mesenchyme|inferior member mesenchyme|mesenchyme of inferior member	http://purl.obolibrary.org/obo/UBERON_0003860	Mesenchyme that is part of a developing hindlimb [Automatically generated definition].	
UBERON:4200172	neck of humerus	biolink:AnatomicalEntity	mondo			collum anatomicum (Humerus)|collum anatomicum humeri|humeral neck|anatomic neck of humerus	http://purl.obolibrary.org/obo/UBERON_4200172		
GO:0008289	lipid binding	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0008289	Interacting selectively and non-covalently with a lipid.	
MONDO:0100203	parainfluenza virus type 1 infectious disease	biolink:Disease	mondo	OMOP:4248511		human respirovirus 1 infectious disease|infection due to human parainfluenza virus 1|parainfluenza 1 infection|infection caused by human parainfluenza virus 1	http://purl.obolibrary.org/obo/MONDO_0100203	A disease caused by infection with parainfluenza virus type 1.	
PATO:0001857	concave	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0001857	A shape quality in a bearer by virtue of the bearer's curving inward.	
MONDO:0100204	parainfluenza virus type 2 infectious disease	biolink:Disease	mondo	OMOP:4289924		human rubulavirus 2 infectious disease|infection due to human parainfluenza virus 2|infection caused by human parainfluenza virus 2	http://purl.obolibrary.org/obo/MONDO_0100204	A disease caused by infection with parainfluenza virus type 2.	
MONDO:0100205	parainfluenza virus type 4 infectious disease	biolink:Disease	mondo	OMOP:4288743		infection due to parainfluenza virus 4|infection caused by human parainfluenza virus 4|infection caused by parainfluenza virus 4|human rubulavirus 4 infectious disease|infection due to human parainfluenza virus 4	http://purl.obolibrary.org/obo/MONDO_0100205	A disease caused by infection with parainfluenza virus type 4.	
GO:0008285	negative regulation of cell population proliferation	biolink:OntologyClass	mondo			downregulation of cell proliferation|down regulation of cell proliferation|inhibition of cell proliferation|down-regulation of cell proliferation|negative regulation of cell proliferation	http://purl.obolibrary.org/obo/GO_0008285	Any process that stops, prevents or reduces the rate or extent of cell proliferation.	
GO:0033240	positive regulation of cellular amine metabolic process	biolink:OntologyClass	mondo			positive regulation of amine metabolism	http://purl.obolibrary.org/obo/GO_0033240	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving amines.	
GO:0033239	negative regulation of cellular amine metabolic process	biolink:OntologyClass	mondo			negative regulation of amine metabolism	http://purl.obolibrary.org/obo/GO_0033239	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving amines.	
GO:0033238	regulation of cellular amine metabolic process	biolink:OntologyClass	mondo			regulation of amine metabolism	http://purl.obolibrary.org/obo/GO_0033238	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform amines.	
MONDO:0100210	growth hormone insensitivity syndrome with immune dysregulation	biolink:Disease	mondo	OMIMPS:245590			http://purl.obolibrary.org/obo/MONDO_0100210		
MONDO:0100211	growth hormone insensitivity with immune dysregulation 1, autosomal recessive	biolink:Disease	mondo	OMIM:245590|UMLS:C1855548|Orphanet:220465|SCTID:724179008|ICD10:E34.3|MESH:C537871|ICD10:D82.8|UMLS:C4510411	ordo_disease	growth hormone insensitivity with immunodeficiency|Laron syndrome with immunodeficiency|short stature due to STAT5b deficiency|growth hormone insensitivity due to postreceptor defect|Laron syndrome due to postreceptor defect|Laron-like syndrome	http://purl.obolibrary.org/obo/MONDO_0100211		http://identifiers.org/omim/245590|SNOMEDCT:724179008|MESH:C537871|UMLS:C1855548|UMLS:C4510411|ORPHA:220465
MONDO:0100212	IFAP syndrome	biolink:Disease	mondo	OMIMPS:308205			http://purl.obolibrary.org/obo/MONDO_0100212		
MONDO:0100213	IFAP syndrome with or without BRESHECK syndrome	biolink:Disease	mondo	OMIM:308205|UMLS:C1839988|GARD:0002952|MESH:C536085|Orphanet:2273	ordo_disease	ichthyosis follicularis atrichia photophobia syndrome|ichthyosis follicularis-alopecia-photophobia syndrome|IFAP syndrome|ichthyosis follicularis-atrichia-photophobia syndrome|IFAP/BRESHECK syndrome|IFAP syndrome with or without BRESHECK syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, Ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia	http://purl.obolibrary.org/obo/MONDO_0100213	An X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome.	MESH:C536085|UMLS:C1839988|http://identifiers.org/omim/308205|ORPHA:2273
PATO:0001863	chronic	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0001863	A duration quality of a process inhering in a bearer by virtue of the bearer's having slow progressive course of indefinite duration.	
MONDO:0100214	Rajab interstitial lung disease with brain calcifications	biolink:Disease	mondo	OMIMPS:613658			http://purl.obolibrary.org/obo/MONDO_0100214		
MONDO:0100215	Rajab interstitial lung disease with brain calcifications 1	biolink:Disease	mondo	UMLS:C3150910|UMLS:CN248515|SCTID:720576001|Orphanet:178506|OMIM:618007|OMIM:613658	ordo_disease	neurodevelopmental disorder with brain, liver, and lung abnormalities; NEDBLLA|NEDBLLA|brain calcification, Rajab type|neurodevelopmental disorder with brain, liver, and lung abnormalities|Rajab syndrome|developmental delay, small stature, microcephaly, and brain calcifications	http://purl.obolibrary.org/obo/MONDO_0100215		http://identifiers.org/omim/613658|ORPHA:178506|http://identifiers.org/omim/618007|UMLS:CN248515|UMLS:C3150910|SNOMEDCT:720576001
MONDO:0100209	X inactivation, familial skewed	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100209		
HP:0007556	Plantar hyperkeratosis	biolink:PhenotypicFeature	mondo	UMLS:C1856954		Plantar hyperkeratoses	http://purl.obolibrary.org/obo/HP_0007556	Hyperkeratosis affecting the sole of the foot.	
GO:0035898	parathyroid hormone secretion	biolink:OntologyClass	mondo			PTH secretion|parathyrin secretion|parathormone secretion	http://purl.obolibrary.org/obo/GO_0035898	The regulated release of parathyroid hormone into the circulatory system.	
HP:0007550	Hypohidrosis or hyperhidrosis	biolink:PhenotypicFeature	mondo	UMLS:C4021831		Lack of sweating or excessive sweating	http://purl.obolibrary.org/obo/HP_0007550		
MONDO:0100220	Rajab interstitial lung disease with brain calcifications 2	biolink:Disease	mondo	OMIM:619013		RILDBC2|RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2	http://purl.obolibrary.org/obo/MONDO_0100220		http://identifiers.org/omim/619013
MONDO:0100221	IFAP syndrome 2	biolink:Disease	mondo	OMIM:619016		IFAP2|IFAP SYNDROME 2|ichthyosis follicularis, atrichia, and photophobia syndrome 2	http://purl.obolibrary.org/obo/MONDO_0100221		http://identifiers.org/omim/619016
MONDO:0100222	A20 haploinsufficiency	biolink:Disease	mondo			HA20	http://purl.obolibrary.org/obo/MONDO_0100222	Any immune dysregulation disease in which the cause of the disease is a mutation in the TNFAIP3 gene.	
PATO:0001873	cylindrical	biolink:OntologyClass	mondo			tubulate|rod-like|rod-shaped	http://purl.obolibrary.org/obo/PATO_0001873	A convex 3-D shape quality inhering in a bearer by virtue of the bearer's exhibiting a consistently-sized round cross section.	
MONDO:0100223	mitochondrial complex I deficiency, nuclear type	biolink:Disease	mondo	OMIMPS:252010			http://purl.obolibrary.org/obo/MONDO_0100223		
MONDO:0100224	mitochondrial complex I deficiency, nuclear type 1	biolink:Disease	mondo	GARD:0003908|OMIM:252010|ICD10:G71.3|UMLS:C1838979		NADH-coenzyme Q reductase deficiency|NADH:Q(1) oxidoreductase deficiency|mitochondrial NADH dehydrogenase component of Complex I, deficiency of|mitochondrial complex I deficiency|MC1DN1|mitochondrial complex 1 deficiency	http://purl.obolibrary.org/obo/MONDO_0100224		UMLS:C1838979|http://identifiers.org/omim/252010
PATO:0001874	discoid	biolink:OntologyClass	mondo			disc-shaped|disk-shaped	http://purl.obolibrary.org/obo/PATO_0001874	A shape quality inhering in a bearer by virtue of the bearer's being cylindrical, in which the height is less than the diameter.	
MONDO:0100225	collagen 6-related myopathy	biolink:Disease	mondo			collagen VI-related myopathy|collagen VI-related muscular dystrophy|collagen VI-related muscle disorder	http://purl.obolibrary.org/obo/MONDO_0100225	A qualitative or quantitative defect of collagen 6 disorder that covers a wide spectrum of musculoskeletal phenotypes caused by dominant and recessive mutations in the three major collagen VI genes: COL6A1, COL6A2, and COL6A3. These variants lead to a variety of overlapping phenotypes, ranging from severe congenital muscle weakness, hypotonia, torticollis and contractures with loss or non-development of ambulation on one end and childhood to adult onset mild muscle weakness, stiffness, and joint hyperlaxity on the other.	
MONDO:0100226	parasomnia, sleepwalking type	biolink:Disease	mondo	MESH:D013009|OMIM:613938		parasomnia, sleep terrors type|parasomnia, sleepwalking type; PSMNSW|PSMNSW|somnambulism|sleep walking|sleep walking disorder|sleepwalking disorder	http://purl.obolibrary.org/obo/MONDO_0100226	A disorder in which a series of complex behaviors are initiated during slow-wave (non-REM) sleep and result in walking during sleep. It is a parasomnia, defined as a clinical disorder resulting in undesirable physical phenomena that occur predominantly during sleep. Parasomnias are not abnormalities of the processes responsible for sleep and wake states. Sleepwalking is more common in childhood (up to 26%), and usually resolves in adolescence; however, it can persist into adulthood (3%).	MESH:D013009|http://identifiers.org/omim/613938
MONDO:0100228	LAMA2-related muscular dystrophy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100228	Any muscular dystrophy in which the cause of the disease is a mutation in the LAMA2 gene.	
MONDO:0100218	arthrogryposis multiplex congenita 5	biolink:Disease	mondo	OMIM:618947		ARTHROGRYPOSIS MULTIPLEX CONGENITA 5|AMC5	http://purl.obolibrary.org/obo/MONDO_0100218		http://identifiers.org/omim/618947
MONDO:0100219	growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant	biolink:Disease	mondo	OMIM:618985		GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT|GHISID2	http://purl.obolibrary.org/obo/MONDO_0100219		http://identifiers.org/omim/618985
MONDO:0016390	familial isolated hypoparathyroidism	biolink:Disease	mondo	DOID:0111387|SCTID:725036000|Orphanet:2238|GARD:0002910|MESH:C537156|OMIMPS:146200|ICD10:E20.8|UMLS:C1832648	ordo_disease	hypoparathyroidism familial isolated|hypoparathyroidism, familial|hypoparathyroidism, familial isolated|FIH|hypoparathyroidism, familial isolated; FIH	http://purl.obolibrary.org/obo/MONDO_0016390	Familial isolated hypoparathyroidism (FIH) is a rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects.	SNOMEDCT:725036000|ORPHA:2238|MESH:C537156|UMLS:C1832648|DOID:0111387
MONDO:0016391	neonatal diabetes mellitus	biolink:Disease	mondo	ICD9:775.1|SCTID:49817004|COHD:193323|MedDRA:10028933|DOID:11717|NCIT:C99248|ICD10:P70.2|UMLS:C0158981|Orphanet:224	ordo_group_of_disorders	congenital diabetes mellitus|diabetes mellitus syndrome in newborn infant|NDM	http://purl.obolibrary.org/obo/MONDO_0016391	Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life.	MEDDRA:10028933|DOID:11717|ORPHA:224|UMLS:C0158981|NCIT:C99248|SNOMEDCT:49817004
MONDO:0016392	cerebellar hypoplasia-tapetoretinal degeneration syndrome	biolink:Disease	mondo	GARD:0001196|DOID:0070339|ICD10:Q04.3|Orphanet:2246	ordo_malformation_syndrome|gard_rare	cerebellar hypoplasia tapetoretinal degeneration	http://purl.obolibrary.org/obo/MONDO_0016392	Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus.	DOID:0070339|ORPHA:2246
MONDO:0100230	fatty acyl-CoA reductase 1 dysregulation	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100230		
MONDO:0100231	psoriatic arthritis, susceptibility to, 1	biolink:Disease	mondo	OMIM:607507		psoriatic arthritis, susceptibility to, 1|psoriatic arthritis susceptibility caused by LTA	http://purl.obolibrary.org/obo/MONDO_0100231	A susceptibility or predisposition to psoriatic arthritis, in which the cause of the disease is a mutation in the LTA gene. Psoriatic arthritis affects more than 10% of patients with psoriasis and, in most cases, there is an association between the severity of the arthritis and the skin involvement.	http://identifiers.org/omim/607507
MONDO:0100232	'psoriatic arthritis, susceptibility to	biolink:Disease	mondo			psoriatic arthritis, susceptibility|psoriatic arthritis, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0100232	An inherited susceptibility or predisposition to developing psoriatic arthritis.	
MONDO:0100233	long COVID-19	biolink:Disease	mondo			long-haul COVID-19|long haul COVID-19	http://purl.obolibrary.org/obo/MONDO_0100233	A chronic disease triggered by acute COVID-19 infection that is characterized by persistent symptoms following the acute phase of the SARS-CoV-2 infection, which may include fatigue, coughing, dyspnea, clouding of mentation, sleep disturbances, exercise intolerance and autonomic symptoms including tachycardia upon mild exercise or standing, night sweats, temperature dysregulation, gastroparesis, constipation or loose stools, and peripheral vasoconstriction.	
MONDO:0100234	paroxysmal familial ventricular fibrillation	biolink:Disease	mondo	GARD:0004227|Orphanet:228140		idiopathic ventricular fibrillation, non Brugada type|idiopathic ventricular fibrillation|paroxysmal familial ventricular fibrillation (disorder)|paroxysmal ventricular fibrillation|IVF|ventricular fibrillation, paroxysmal familial|paroxysmal familial ventricular fibrillation	http://purl.obolibrary.org/obo/MONDO_0100234	A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence.	ORPHA:228140
NCBITaxon:1206795	Lophotrochozoa	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1206795		
GO:0008284	positive regulation of cell population proliferation	biolink:OntologyClass	mondo			activation of cell proliferation|up-regulation of cell proliferation|positive regulation of cell proliferation|upregulation of cell proliferation|stimulation of cell proliferation|up regulation of cell proliferation	http://purl.obolibrary.org/obo/GO_0008284	Any process that activates or increases the rate or extent of cell proliferation.	
MONDO:0100229	Heimler syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100229	A peroxisoome biogenesis disorder characterised by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, nail abnormalities and occasional or late-onset retinal pigmentation abnormalities, in which the cause of the disease is a mutation in peroxisomal biogenesis factor 1 (PEX1) or peroxisomal biogenesis factor 6 (PEX6) genes.	
NCBITaxon:1206794	Ecdysozoa	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1206794		
GO:0008283	cell population proliferation	biolink:OntologyClass	mondo			cell proliferation	http://purl.obolibrary.org/obo/GO_0008283	The multiplication or reproduction of cells, resulting in the expansion of a cell population.	
MONDO:0016397	lysosomal disease with epilepsy	biolink:Disease	mondo	Orphanet:225681|UMLS:CN201328	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016397		UMLS:CN201328|ORPHA:225681
MONDO:0016398	peroxisomal disease with epilepsy	biolink:Disease	mondo	Orphanet:225686|UMLS:CN201329	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016398		UMLS:CN201329|ORPHA:225686
MONDO:0016399	amino acid or protein metabolism disease with epilepsy	biolink:Disease	mondo	UMLS:CN201330|Orphanet:225689	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016399		UMLS:CN201330|ORPHA:225689
MONDO:0016393	hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	biolink:Disease	mondo	Orphanet:2250|ICD10:Q87.8|UMLS:CN201299	ordo_disease	Bosma-Henkin-Christiansen syndrome|Bosma arhinia-microphthalmia syndrome	http://purl.obolibrary.org/obo/MONDO_0016393	This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.	ORPHA:2250|UMLS:CN201299
MONDO:0016394	sporadic infantile bilateral striatal necrosis	biolink:Disease	mondo	ICD10:G23.2|Orphanet:225147	ordo_clinical_subtype	sporadic infantile striatonigral degeneration|ABSN|sporadic IBSN|sporadic infantile striatonigral necrosis|acute bilateral striatal necrosis	http://purl.obolibrary.org/obo/MONDO_0016394	Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.	ORPHA:225147
MONDO:0016395	foveal hypoplasia-presenile cataract syndrome	biolink:Disease	mondo	Orphanet:2253|ICD10:H26.0|MESH:C537858|UMLS:C2931644	ordo_disease	O'Donnell-Pappas syndrome	http://purl.obolibrary.org/obo/MONDO_0016395		UMLS:C2931644|ORPHA:2253|MESH:C537858
MONDO:0016396	pontocerebellar hypoplasia type 1	biolink:Disease	mondo	GARD:0010704|Orphanet:2254|UMLS:C1843504|OMIM:614339|SCTID:718610008|MESH:C548069|ICD10:Q04.3	ordo_malformation_syndrome	mental retardation, autosomal recessive 32|mental retardation, autosomal recessive 32; MRT32|PCH1|MRT32|Norman disease	http://purl.obolibrary.org/obo/MONDO_0016396	Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death.	http://identifiers.org/omim/614339|ORPHA:2254|MESH:C548069|UMLS:C1843504|SNOMEDCT:718610008
GO:0008242	omega peptidase activity	biolink:OntologyClass	mondo			peptidase activity, acting on peptides containing modified amino acids	http://purl.obolibrary.org/obo/GO_0008242	Catalysis of the cleavage of non-standard peptide bonds releasing substituted amino acids such as pyroglutamate or cleave isopeptide bonds, such as many deubiquitinating enzymes.	
HGNC:28472	TMEM43	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28472		
HGNC:16499	RAB39B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16499		
NCBITaxon:118882	Brucellaceae	organism taxon	mondo	GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_118882		
PATO:0001824	dry	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0001824	A wetness quality inhering in a bearer by virtue of the bearer's not being covered by a liquid.	
HGNC:28486	MFSD8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28486		
PATO:0001822	wetness	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0001822	A quality inhering in a bearer by virtue of whether the bearer's being covered by a liquid.	
GO:0008228	opsonization	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0008228	The process in which a microorganism (or other particulate material) is rendered more susceptible to phagocytosis by coating with an opsonin, a blood serum protein such as a complement component or antibody.	
MONDO:0041366	acute epiglottitis	biolink:Disease	mondo	SCTID:29608009		epiglottitis, acute|acute epiglottitis|acute epiglottitis and supraglottitis	http://purl.obolibrary.org/obo/MONDO_0041366	Acute form of epiglottitis.	SNOMEDCT:29608009
HGNC:16473	NME8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16473		
HGNC:16472	SLC45A2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16472		
GO:0008238	exopeptidase activity	biolink:OntologyClass	mondo			exoprotease activity	http://purl.obolibrary.org/obo/GO_0008238	Catalysis of the hydrolysis of a peptide bond not more than three residues from the N- or C-terminus of a polypeptide chain, in a reaction that requires a free N-terminal amino group, C-terminal carboxyl group or both.	
GO:0008236	serine-type peptidase activity	biolink:OntologyClass	mondo			serine protease activity	http://purl.obolibrary.org/obo/GO_0008236	Catalysis of the hydrolysis of peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine).	
GO:0008233	peptidase activity	biolink:OntologyClass	mondo			peptidase activity, acting on D-amino acid peptides|protease activity|peptide hydrolase activity|hydrolase, acting on peptide bonds|proteinase activity|peptidase activity, acting on L-amino acid peptides	http://purl.obolibrary.org/obo/GO_0008233	Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid.	
GO:0008240	tripeptidyl-peptidase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0008240	Catalysis of the release of an N-terminal tripeptide from a polypeptide.	
MONDO:0004478	pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma	biolink:Disease	mondo	DOID:8144|UMLS:C1333038|NCIT:C37204		chronic lymphocytic leukemia/small lymphocytic lymphoma with unmutated Immunoglobulin heavy chain variable-region Gene|pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma|CLL/SLL with unmutated IGVH	http://purl.obolibrary.org/obo/MONDO_0004478	A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) that lacks somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes, implying pregerminal center B-cell origin. Microarray gene expression profiling studies have demonstrated the expression of ZAP-70 gene (Syk family tyrosine kinase) in this subset of CLL/CLL. Patients with this variant of CLL/SLL have an unfavorable prognosis compared to those with somatic hypermutations of the IGH genes, with a median survival of approximately 6-8 years.	DOID:8144|NCIT:C37204|UMLS:C1333038
MONDO:0004477	adrenal gland ganglioneuroblastoma	biolink:Disease	mondo	UMLS:C1332176|NCIT:C7646|DOID:8140		ganglioneuroblastoma (disease) of adrenal gland|adrenal ganglioneuroblastoma|adrenal gland ganglioneuroblastoma (disease)|adrenal gland ganglioneuroblastoma	http://purl.obolibrary.org/obo/MONDO_0004477	A ganglioneuroblastoma arising from the adrenal gland.	UMLS:C1332176|NCIT:C7646|DOID:8140
GO:0045190	isotype switching	biolink:OntologyClass	mondo			class switch recombination|class switching|isotype switch recombination	http://purl.obolibrary.org/obo/GO_0045190	The switching of activated B cells from IgM biosynthesis to biosynthesis of other isotypes of immunoglobulin, accomplished through a recombination process involving an intrachromosomal deletion involving switch regions that reside 5' of each constant region gene segment in the immunoglobulin heavy chain locus.	
MONDO:0004479	malignant childhood germ cell neoplasm	biolink:Disease	mondo	UMLS:C1334574|NCIT:C6541|DOID:8149		malignant pediatric germ cell neoplasm|malignant childhood germ cell tumor|malignant childhood germ cell neoplasm|malignant pediatric germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0004479	A malignant germ cell tumor that occurs during childhood.	DOID:8149|UMLS:C1334574|NCIT:C6541
GO:0045191	regulation of isotype switching	biolink:OntologyClass	mondo			regulation of class switch recombination|regulation of isotype switch recombination|regulation of class switching	http://purl.obolibrary.org/obo/GO_0045191	Any process that modulates the frequency, rate or extent of isotype switching.	
MONDO:0004474	gallbladder lymphoma	biolink:Disease	mondo	UMLS:C1333748|NCIT:C5734|DOID:8135		gallbladder lymphoma|lymphoma of the gallbladder|primary gallbladder lymphoma|lymphoma of gall bladder|gall bladder lymphoma|lymphoma of gallbladder	http://purl.obolibrary.org/obo/MONDO_0004474	A lymphoma that arises from the gallbladder, with the bulk of the tumor located at this site.	UMLS:C1333748|NCIT:C5734|DOID:8135
MONDO:0004473	epiglottis cancer	biolink:Disease	mondo	NCIT:C35697|SCTID:187681002|ICD10:C10.1|DOID:8133|ICD9:146.4|NCIT:C4836		malignant neoplasm of epiglottis|malignant tumor of Epiglottis|epiglottic carcinoma|malignant epiglottic neoplasm|malignant neoplasm of anterior epiglottis|malignant Epiglottis neoplasm|epiglottis cancer|malignant tumor of the Epiglottis|epiglottic throat cancer|epiglottic cancer|malignant neoplasm of Epiglottis|malignant epiglottis neoplasm|malignant neoplasm of anterior aspect of epiglottis|malignant neoplasm of the Epiglottis|malignant Epiglottis tumor|malignant epiglottic tumor|malignant neoplasm of anterior surface of epiglottis|cancer of epiglottis	http://purl.obolibrary.org/obo/MONDO_0004473	A malignant neoplasm that affects the epiglottis. The vast majority of cases are squamous cell carcinomas.	NCIT:C4836|NCIT:C35697|DOID:8133|SNOMEDCT:187681002
MONDO:0004476	obsolete thymus sarcomatoid carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004476	A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma.	
MONDO:0004475	thymus clear cell carcinoma	biolink:Disease	mondo	UMLS:C1333069|NCIT:C6462|DOID:8137		clear cell carcinoma of Thymus|thymic clear cell carcinoma|Thymus clear cell carcinoma|thymus clear cell carcinoma|clear cell carcinoma of the Thymus|clear cell carcinoma of the Thymus	http://purl.obolibrary.org/obo/MONDO_0004475	A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of carcinoma cells with clear cytoplasm.	UMLS:C1333069|NCIT:C6462|DOID:8137
HGNC:28557	KLHDC8B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28557		
MONDO:0004470	obsolete osteochondrosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004470		
MONDO:0004472	breast columnar cell mucinous carcinoma	biolink:Disease	mondo	UMLS:C1511305|DOID:8130|NCIT:C40355		breast columnar cell mucinous carcinoma	http://purl.obolibrary.org/obo/MONDO_0004472	An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are not identified.	NCIT:C40355|UMLS:C1511305|DOID:8130
MONDO:0004471	bacterial arthritis	biolink:Disease	mondo	ICD9:711.90|ICD10:M00.9|ICD9:711.9|NCIT:C26699|DOID:813|MESH:D001170|SCTID:48245008|EFO:1001351|ICD9:711.97|ICD9:711.96|ICD9:711.95|ICD9:711.0|ICD9:711.94|ICD9:711.40|ICD10:M00|ICD9:711.93|ICD9:711.92|ICD9:711.91		pyogenic arthritis|infectious arthritis|septic arthritis	http://purl.obolibrary.org/obo/MONDO_0004471	The inflammation of one or more joints caused by a bacterial infection within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint.	MESH:D001170|DOID:813|SNOMEDCT:48245008|NCIT:C26699
MONDO:0016467	isotretinoin syndrome	biolink:Disease	mondo	GARD:0000517|ICD10:Q86.8|Orphanet:2305|NCIT:C98929|SCTID:36871005|MESH:C535670	ordo_malformation_syndrome|gard_rare	fetal retinoid syndrome|Accutane-exposed pregnancies|Isotretinoin (RoAccutane) embryopathy|Isotretinoin embryopathy|Isotretinoin teratogen syndrome|fetal isotretinoin syndrome|Retinoids embryopathy|Acutane embryopathy|Accutane fetal effects of|retinoic acid embryopathy|Isotretinoin fetal effects of	http://purl.obolibrary.org/obo/MONDO_0016467	Isotretinoin embryopathy is an association of malformations caused by the teratogenic effect of isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia. Isoretinoin is contraindicated during pregnancy.	ORPHA:2305|MESH:C535670|SNOMEDCT:36871005|NCIT:C98929
MONDO:0016468	toxin-mediated infectious botulism	biolink:Disease	mondo	Orphanet:230800|ICD10:A05.1	ordo_clinical_subtype	toxin-mediated infective botulism	http://purl.obolibrary.org/obo/MONDO_0016468	Aform of botulism (see this term), a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), produced in vivo leading to toxin-mediated infection. Infectious botulism includes wound botulism and intestinal toxemia botulism (infant botulism and adult intestinal botulism).	ORPHA:230800
MONDO:0016469	Ehlers-Danlos syndrome, vascular-like type	biolink:Disease	mondo	Orphanet:230845|SCTID:720862007|ICD10:Q79.6|UMLS:CN201458	ordo_disease	EDS, vascular-like type	http://purl.obolibrary.org/obo/MONDO_0016469	Ehlers-Danlos, vascular-like type is an adult-onset form of Ehlers-Danlos syndrome characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries.	UMLS:CN201458|SNOMEDCT:720862007|ORPHA:230845
MONDO:0016463	syndromic agammaglobulinemia	biolink:Disease	mondo	Orphanet:229720|NCIT:C26931|UMLS:CN226939	ordo_group_of_disorders	syndrome associated with agammaglobulinemia|syndrome associated with agammaglobulinemia|syndromic hypogammaglobulinemia|syndromic agammaglobulinemia|hypogammaglobulinemia	http://purl.obolibrary.org/obo/MONDO_0016463	A agammaglobulinemia that is part of a larger syndrome.	UMLS:CN226939|ORPHA:229720|NCIT:C26931
MONDO:0016464	insulin-resistance syndrome type B	biolink:Disease	mondo	Orphanet:2298|UMLS:C0342337|GARD:0003009|ICD10:E13	gard_rare|ordo_disease	insulin-resistance type B	http://purl.obolibrary.org/obo/MONDO_0016464	Type B insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome, and type A insulin resistance syndrome) and occurs in the context of immune dysfunction.	ORPHA:2298|UMLS:C0342337
MONDO:0016465	obsolete multiple intestinal atresia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016465		
MONDO:0016466	asbestosis	biolink:Disease	mondo	EFO:0007153|UMLS:C0003949|DOID:10320|CSP:2596-4484|ICD9:501|NCIT:C84573|MESH:D001195|ICD10:J61|Orphanet:2302|GARD:0005852|SCTID:22607003|COHD:256450	gard_rare|ordo_disease	pulmonary fibrosis - from asbestos exposure|idiopathic interstitial pneumonitis - from asbestos exposure|asbestos intoxication|pneumoconiosis from asbestos dust|asbestos dust pneumoconiosis|asbestosis|asbestos pneumoconiosis|asbestos intoxination	http://purl.obolibrary.org/obo/MONDO_0016466	A lung disorder caused by inhalation of asbestos fibers. It results in fibrosis of the lung parenchyma. Signs and symptoms include coughing, shortness of breath and chest pain.	UMLS:C0003949|MESH:D001195|ORPHA:2302|SNOMEDCT:22607003|NCIT:C84573|DOID:10320
MONDO:0016460	polyvalvular heart disease syndrome	biolink:Disease	mondo	UMLS:CN201425|ICD10:Q87.8|Orphanet:228410|UMLS:C4509918|SCTID:723448007	ordo_malformation_syndrome	PHD syndrome	http://purl.obolibrary.org/obo/MONDO_0016460	Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.	UMLS:CN201425|SNOMEDCT:723448007|UMLS:C4509918|ORPHA:228410
MONDO:0016461	5q35 microduplication syndrome	biolink:Disease	mondo	UMLS:CN201426|ICD10:Q92.3|Orphanet:228415|SCTID:719665003|UMLS:C4304526	ordo_malformation_syndrome	dup(5)(q35)|trisomy 5q35	http://purl.obolibrary.org/obo/MONDO_0016461	The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation.	UMLS:CN201426|UMLS:C4304526|SNOMEDCT:719665003|ORPHA:228415
MONDO:0016462	isolated agammaglobulinemia	biolink:Disease	mondo	SCTID:764858009|Orphanet:229717	ordo_disease	isolated hypogammaglobulinemia|nonsyndromic agammaglobulinemia	http://purl.obolibrary.org/obo/MONDO_0016462	Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy.	SNOMEDCT:764858009|ORPHA:229717
MONDO:0004489	fallopian tube gestational choriocarcinoma	biolink:Disease	mondo	DOID:8186|UMLS:C1333593|NCIT:C6278		gestational choriocarcinoma of the fallopian tube|gestational choriocarcinoma of fallopian tube|fallopian tube gestational choriocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004489	A malignant trophoblastic tumor that arises from the fallopian tube during pregnancy.	UMLS:C1333593|NCIT:C6278|DOID:8186
MONDO:0004488	cervical atypical polypoid adenomyoma	biolink:Disease	mondo	NCIT:C40234|UMLS:C1516409|DOID:8179			http://purl.obolibrary.org/obo/MONDO_0004488	An adenomyoma that arises from the cervix and is characterized by the presence of a glandular component exhibiting architectural complexity.	UMLS:C1516409|NCIT:C40234|DOID:8179
GO:1901699	cellular response to nitrogen compound	biolink:OntologyClass	mondo			cellular response to nitrogen molecular entity	http://purl.obolibrary.org/obo/GO_1901699	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus.	
MONDO:0004485	interstitial myocarditis	biolink:Disease	mondo	DOID:817|SCTID:37925008|NCIT:C35786|UMLS:C0027060			http://purl.obolibrary.org/obo/MONDO_0004485	Inflammation of the heart characterized by infiltration of the interstitial tissues by inflammatory cells, histiocytes, and the formation of granulomas. Giant cells are often present.	SNOMEDCT:37925008|NCIT:C35786|DOID:817|UMLS:C0027060
MONDO:0004484	gallbladder melanoma	biolink:Disease	mondo	NCIT:C5735|DOID:8167|UMLS:C1333749		gall bladder melanoma|melanoma of the gallbladder|melanoma of gallbladder|malignant melanoma of the gallbladder|melanoma (disease) of gall bladder|gallbladder malignant melanoma|gallbladder melanoma|gall bladder melanoma (disease)|malignant melanoma of gallbladder	http://purl.obolibrary.org/obo/MONDO_0004484	A melanoma that arises from the gallbladder.	UMLS:C1333749|DOID:8167|NCIT:C5735
MONDO:0004487	endometrial type cervical adenomyoma	biolink:Disease	mondo	NCIT:C40233|UMLS:C1516406|DOID:8178		cervical adenomyoma, endometrial type	http://purl.obolibrary.org/obo/MONDO_0004487	An adenomyoma that arises from the cervix and is characterized by the presence of endometrial type glands and endometrial stroma, surrounded by smooth muscle. There is no evidence of atypia.	NCIT:C40233|DOID:8178|UMLS:C1516406
MONDO:0004486	endocervical type cervical adenomyoma	biolink:Disease	mondo	NCIT:C40232|UMLS:C1516405|DOID:8177		cervical adenomyoma, endocervical type	http://purl.obolibrary.org/obo/MONDO_0004486	An adenomyoma that arises from the cervix and is characterized by the presence of endocervical mucinous glands and a smooth muscle cell component. There is no atypia or significant mitotic activity present.	NCIT:C40232|DOID:8177|UMLS:C1516405
GO:1901698	response to nitrogen compound	biolink:OntologyClass	mondo			response to nitrogen molecular entity	http://purl.obolibrary.org/obo/GO_1901698	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus.	
MONDO:0004481	pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma	biolink:Disease	mondo	DOID:8150|NCIT:C5726|UMLS:C1518871|ICDO:8453/3		pancreatic intraductal papillary mucinous neoplasm with an associated invasive carcinoma|pancreatic invasive intraductal papillary-mucinous carcinoma|pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma	http://purl.obolibrary.org/obo/MONDO_0004481	A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of a focal or multifocal invasive carcinomatous component. The invasive carcinoma is either colloid or ductal adenocarcinoma.	DOID:8150|NCIT:C5726|UMLS:C1518871
MONDO:0004480	obsolete pancreatic invasive intraductal papillary-mucinous carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004480		
MONDO:0004483	thyroid gland oncocytic adenoma	biolink:Disease	mondo	DOID:8162|UMLS:C1336750|ONCOTREE:OAT|NCIT:C6042		thyroid gland oncocytic adenoma|thyroid gland Hurthle cell adenoma|Hurthle cell adenoma|OAT|oncocytic adenoma of the thyroid gland|follicular adenoma of the thyroid of the oxyphilic cell type|thyroid gland follicular adenoma of the oxyphilic cell type|follicular adenoma of thyroid of oxyphilic cell type|oncocytic adenoma of thyroid gland|oncocytic adenoma of the thyroid|thyroid gland follicular adenoma of oxyphilic cell type|thyroid oncocytic adenoma|benign oncocytoma of the thyroid|Hurthle cell adenoma of the thyroid gland|oncocytic adenoma of thyroid|thyroid follicular adenoma of the oxyphilic cell type|follicular adenoma of the thyroid gland of the oxyphilic cell type|follicular adenoma of thyroid gland of oxyphilic cell type|Hurthle cell adenoma of thyroid gland|thyroid follicular adenoma of oxyphilic cell type|benign thyroid oncocytoma|Hurthle cell adenoma of the thyroid|Hurthle cell adenoma of thyroid|benign oncocytoma of the thyroid gland|benign thyroid gland oncocytoma|benign oncocytoma of thyroid gland|benign oncocytoma of the thyroid|thyroid Hurthle cell adenoma|benign oncocytoma of thyroid	http://purl.obolibrary.org/obo/MONDO_0004483	A thyroid gland adenoma composed of large cells with abundant granular eosinophilic cytoplasm and large nuclei with prominent nucleoli.	NCIT:C6042|DOID:8162|UMLS:C1336750
MONDO:0004482	fibroosseous pseudotumor of the digits	biolink:Disease	mondo	ICD9:215.9|UMLS:C1333612|SCTID:403991009|NCIT:C6573|DOID:8153		fibroosseous pseudotumor of digits|fibroosseous pseudotumor of the digits|fibroosseous digital pseudotumor	http://purl.obolibrary.org/obo/MONDO_0004482	A non-neoplastic soft tissue disorder characterized by the localized formation of reactive fibrous and bone tissues. It usually occurs in the subcutaneous tissue of the proximal phalanx. Less frequently, it involves the toe. It presents with swelling and pain of the affected area. The prognosis is excellent. However, incomplete excision may lead to the re-growth of the lesion.	UMLS:C1333612|SNOMEDCT:403991009|NCIT:C6573|DOID:8153
MONDO:0016456	5q14.3 microdeletion syndrome	biolink:Disease	mondo	Orphanet:228384|SCTID:719661007|GARD:0012166|ICD10:Q93.5	ordo_malformation_syndrome	5q14.3 deletion syndrome|monosomy 5q14.3|Del(5)(q14.3)|chromosome 5q14.3 deletion syndrome|autosomal dominant intellectual disability 20	http://purl.obolibrary.org/obo/MONDO_0016456	The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.	SNOMEDCT:719661007|ORPHA:228384
MONDO:0016457	ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome	biolink:Disease	mondo	Orphanet:228396|UMLS:CN201421|ICD10:Q87.0	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0016457	Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism.	ORPHA:228396|UMLS:CN201421
MONDO:0016458	8q12 microduplication syndrome	biolink:Disease	mondo	ICD10:Q92.3|GARD:0012816|Orphanet:228399|UMLS:C4304504|UMLS:CN201422|SCTID:719684000	gard_rare|ordo_malformation_syndrome	dup(8)(q12)|chromosome 8q12 microduplication syndrome|trisomy 8q12	http://purl.obolibrary.org/obo/MONDO_0016458	The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly.	ORPHA:228399|UMLS:CN201422|SNOMEDCT:719684000|UMLS:C4304504
MONDO:0016459	2q23.1 microdeletion syndrome	biolink:Disease	mondo	ICD10:Q93.5|SCTID:719657001|GARD:0010998|Orphanet:228402	gard_rare|ordo_malformation_syndrome	pseudo-Angelman syndrome|Del(2)(q23.1)|monosomy 2q23.1|chromosome 2q23.1 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0016459	The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.	SNOMEDCT:719657001|ORPHA:228402
MONDO:0016452	idiopathic hypersomnia without long sleep time	biolink:Disease	mondo	ICD9:327.12|ICD10:G47.12|UMLS:C1561855|Orphanet:228318|SCTID:442292004|ICD10:F51.1	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0016452	Idiopathic hypersomnia without long sleep time is a sleep disorder characterized almost entirely by constant excessive daytime drowsiness lasting more than 3 months, with involuntary more or less restorative daytime naps. Night rest is of normal length or slightly prolonged but is less than 10 hours in duration, with often normal awakening.	ORPHA:228318|UMLS:C1561855|SNOMEDCT:442292004
MONDO:0016453	foodborne botulism	biolink:Disease	mondo	ICD10:A05.1|SCTID:398523009|Orphanet:228371|UMLS:C1739094|COHD:443444|ICD9:005.1|NCIT:C128341|DOID:0050352	ordo_clinical_subtype	intoxication botulism	http://purl.obolibrary.org/obo/MONDO_0016453	Foodborne botulism is the most common form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs). It is caused by consumption of contaminated food containing BoNTs.	UMLS:C1739094|ORPHA:228371|SNOMEDCT:398523009|DOID:0050352|NCIT:C128341
MONDO:0016454	severe early-onset axonal neuropathy due to NEFL deficiency	biolink:Disease	mondo	Orphanet:228374|ICD10:G60.0	ordo_disease	severe early-onset axonal neuropathy due to light neurofilament subunit deficiency|autosomal recessive Charcot-Marie-Tooth disease type 2B5|SEOAN due to NEFL deficiency|AR-CMT2B5|Charcot-Marie-Tooth disease type 2B5	http://purl.obolibrary.org/obo/MONDO_0016454	Charcot-Marie-Tooth disease type 2B5 is a rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.	ORPHA:228374
MONDO:0016455	virus-associated trichodysplasia spinulosa	biolink:Disease	mondo	UMLS:C3267126|Orphanet:228379	ordo_disease	TS|pilomatrix dysplasia|VATS|Cyclosporine-induced folliculodystrophy|trichodysplasia spinulosa	http://purl.obolibrary.org/obo/MONDO_0016455	Virus-associated trichodysplasia spinulosa is a rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to polyomavirus infection in immunocompromized patients.	ORPHA:228379|UMLS:C3267126
MONDO:0016450	autoimmune hemolytic anemia, cold type	biolink:Disease	mondo	UMLS:CN201401|ICD10:D59.1|Orphanet:228312	ordo_group_of_disorders	cold AIHA|cAHA|cAIHA	http://purl.obolibrary.org/obo/MONDO_0016450	Cold autoimmune hemolytic anemia comprises two types of autoimmune hemolytic anemia (AIHA) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C): cold agglutinin disease (CAD), which is the more common, and paroxysmal cold hemoglobinuria (PCH).	ORPHA:228312|UMLS:CN201401
MONDO:0016451	idiopathic hypersomnia with long sleep time	biolink:Disease	mondo	ICD9:327.11|UMLS:C2711059|ICD10:F51.1|ICD10:G47.11|Orphanet:228315|SCTID:442416002	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0016451	Idiopathic hypersomnia with long sleep time is a sleep disorder characterized by good quality night rest of 10 hours or more, excessive daytime drowsiness that is more or less continual with long episodes of non-restorative sleep, and difficult waking with sleep drunkenness or sleep inertia.	ORPHA:228315|UMLS:C2711059|SNOMEDCT:442416002
MONDO:0004459	bladder hepatoid adenocarcinoma	biolink:Disease	mondo	NCIT:C39838|DOID:8097|UMLS:C1511189		bladder hepatoid adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004459	A hepatoid adenocarcinoma that involves the urinary bladder.	NCIT:C39838|DOID:8097|UMLS:C1511189
MONDO:0004456	cocaine abuse	biolink:Disease	mondo	ICD9:305.6|DOID:809|SCTID:78267003|ICD9:305.60|ICD10:F14.1			http://purl.obolibrary.org/obo/MONDO_0004456	Disorders related or resulting from use of cocaine.	DOID:809|SNOMEDCT:78267003
MONDO:0004455	classic congenital mesoblastic nephroma	biolink:Disease	mondo	NCIT:C39814|DOID:8083|UMLS:C1516475		classic congenital mesoblastic nephroma	http://purl.obolibrary.org/obo/MONDO_0004455	A congenital mesoblastic nephroma characterized by the presence of interlacing fascicles of fibroblastic cells, low mitotic activity, and collagen formation.	NCIT:C39814|DOID:8083|UMLS:C1516475
MONDO:0004458	bladder mixed adenocarcinoma	biolink:Disease	mondo	UMLS:C1511192|DOID:8096|NCIT:C39839			http://purl.obolibrary.org/obo/MONDO_0004458		DOID:8096|NCIT:C39839|UMLS:C1511192
MONDO:0004457	maxillary sinus Schneiderian papilloma	biolink:Disease	mondo	UMLS:C1334646|NCIT:C6839|DOID:8093		Schneiderian papilloma of the maxillary sinus|paranasal sinus Schneiderian papilloma of maxillary sinus|Schneiderian papilloma of maxillary sinus|maxillary sinus paranasal sinus Schneiderian papilloma|maxillary sinus Schneiderian papilloma	http://purl.obolibrary.org/obo/MONDO_0004457	A papilloma that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It is classified as inverted papilloma and oncocytic papilloma.	NCIT:C6839|DOID:8093|UMLS:C1334646
MONDO:0004452	childhood central nervous system germinoma	biolink:Disease	mondo	DOID:8078|UMLS:C1332953|NCIT:C27406		Central nervous system germinoma|central nervous system germinoma of childhood|pediatric central nervous system germinoma|pediatric central nervous system germinoma	http://purl.obolibrary.org/obo/MONDO_0004452	A germinoma arising from the central nervous system during childhood.	DOID:8078|UMLS:C1332953|NCIT:C27406
MONDO:0004451	sarcomatous intrahepatic cholangiocarcinoma	biolink:Disease	mondo	UMLS:C1519184|DOID:8072|NCIT:C41620		sarcomatoid intrahepatic cholangiocarcinoma|intrahepatic cholangiocarcinoma with extensive sarcomatous changes	http://purl.obolibrary.org/obo/MONDO_0004451	A rare, aggressive variant of intrahepatic cholangiocarcinoma. It is characterized by the presence of adenocarcinoma cells that are intermingled with malignant pleomorphic spindle cells.	DOID:8072|NCIT:C41620|UMLS:C1519184
MONDO:0004454	cellular congenital mesoblastic nephroma	biolink:Disease	mondo	NCIT:C39815|DOID:8082|UMLS:C1516474		cellular congenital mesoblastic nephroma	http://purl.obolibrary.org/obo/MONDO_0004454	A congenital mesoblastic nephroma characterized by increased cellularity, sheet-like proliferation of fibroblastic cells, and increased mitotic activity. Necrotic changes are commonly present.	DOID:8082|NCIT:C39815|UMLS:C1516474
MONDO:0004453	testicular yolk sac tumor, myxomatous pattern	biolink:Disease	mondo	UMLS:C1515309|DOID:8081|NCIT:C39929		testicular yolk sac tumor, myxomatous pattern|myxomatous pattern testicular yolk sac tumor	http://purl.obolibrary.org/obo/MONDO_0004453	A yolk sac tumor that arises from the testis and is characterized by the presence of myxomatous tissue that contains collections of malignant cells with prominent nucleoli.	DOID:8081|NCIT:C39929|UMLS:C1515309
MONDO:0004450	carotid artery occlusion	biolink:Disease	mondo	SCTID:266254007|DOID:807|UMLS:C0265101|ICD9:433.10		occlusion and stenosis of carotid artery|carotid artery segment occlusion precerebral artery|occlusion precerebral artery of carotid artery segment	http://purl.obolibrary.org/obo/MONDO_0004450	A occlusion precerebral artery that involves the carotid artery segment.	SNOMEDCT:266254007|UMLS:C0265101|DOID:807
MONDO:0041440	obsolete functional visual loss	biolink:Disease	mondo	UMLS:C0730512|SCTID:313165001		nonphysiologic acuity loss|functional visual loss|nonphysiologic vision loss	http://purl.obolibrary.org/obo/MONDO_0041440		SNOMEDCT:313165001|UMLS:C0730512
MONDO:0016449	mid-dermal elastolysis	biolink:Disease	mondo	Orphanet:228299	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016449		ORPHA:228299
MONDO:0016445	familial anetoderma	biolink:Disease	mondo	Orphanet:228277|ICD10:L90.8|UMLS:CN226934|SCTID:733467001|UMLS:C4518793	ordo_disease	hereditary macular atrophy|hereditary anetoderma	http://purl.obolibrary.org/obo/MONDO_0016445	Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder.	ORPHA:228277|UMLS:C4518793|UMLS:CN226934|SNOMEDCT:733467001
MONDO:0016446	acquired cutis laxa	biolink:Disease	mondo	UMLS:C0406549|SCTID:19726003|Orphanet:228285	ordo_disease	cutis laxa acquisita|acquired cutis laxa	http://purl.obolibrary.org/obo/MONDO_0016446	An instance of cutis laxa that is acquired during the lifetime of the individual.	SNOMEDCT:19726003|ORPHA:228285|UMLS:C0406549
MONDO:0016447	white fibrous papulosis of the neck	biolink:Disease	mondo	UMLS:CN226935|Orphanet:228290	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016447	White fibrous papulosis of the neck (WFPN) is a rare, acquired, dermal elastic tissue disorder characterized by multiple, 2-3 mm sized, non-confluent, asymptomatic, white or pale-colored, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported sites include inferior axillae, central mid-back and upper sternal region.	ORPHA:228290|UMLS:CN226935
MONDO:0016448	pseudoxanthoma elasticum-like papillary dermal elastolysis	biolink:Disease	mondo	Orphanet:228293|SCTID:764105002	ordo_disease	PXE-like papillary dermal elastolysis|PXE-PDE	http://purl.obolibrary.org/obo/MONDO_0016448	Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) is a rare, acquired, idiopathic dermal tissue disorder characterized by numerous, asymptomatic, 2-3 mm, yellowish, non-follicular papules that tend to converge into cobblestone-like plaques which are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike PXE, these skin lesions show select elimination (absence or marked loss) of elastic fibers in the papillary dermis and there is no systemic involvement.	SNOMEDCT:764105002|ORPHA:228293
MONDO:0016441	acquired pseudoxanthoma elasticum	biolink:Disease	mondo	SCTID:403401007|UMLS:C1274759|ICD9:757.39|Orphanet:228247	ordo_disease	acquired pseudoxanthoma elasticum|acquired Gronblad-Strandberg-Touraine syndrome|acquired pseudoxanthoma elasticum (inherited or acquired)|localized acquired cutaneous pseudoxanthoma elasticum|acquired PXE	http://purl.obolibrary.org/obo/MONDO_0016441	A nonheritable form of pseudoxanthoma elasticum (PXE), lacking the retinal and vascular stigmata associated with the inherited form of the disorder, but having skin lesions that are clinically, histologically, and ultrastructurally similar to those seen in the inherited type.	UMLS:C1274759|SNOMEDCT:403401007|ORPHA:228247
MONDO:0016442	elastoma	biolink:Disease	mondo	Orphanet:228254|UMLS:C0473583|ICD9:215.9|SCTID:239140003	ordo_disease	Nevus elasticus|juvenile elastoma without osteopoikilosis|Weidman juvenile elastoma	http://purl.obolibrary.org/obo/MONDO_0016442		ORPHA:228254|SNOMEDCT:239140003|UMLS:C0473583
MONDO:0016443	papular elastorrhexis	biolink:Disease	mondo	SCTID:239138008|Orphanet:228264|UMLS:C0406816|UMLS:C0473584|NCIT:C4707	ordo_disease	disseminated nevus anelasticus|eruptive collagenoma|Nevus anelasticus	http://purl.obolibrary.org/obo/MONDO_0016443	An acquired form of collagenoma that appears in childhood. It is characterized by discrete, firm, skin-colored, and slightly elevated cutaneous papules, nodules or plaques that may be generalized, or found on the trunk and the extremities.	SNOMEDCT:239138008|ORPHA:228264|NCIT:C4707|UMLS:C0406816|UMLS:C0473584
MONDO:0016444	primary anetoderma	biolink:Disease	mondo	SCTID:238829001|ICD10:L90.2|ICD10:L90.1|Orphanet:228272|MESH:D057088|UMLS:C0406550	ordo_disease	primary macular atrophy	http://purl.obolibrary.org/obo/MONDO_0016444	Primary anetoderma is a rare skin disease characterized by loss of elastin tissue resulting in localized areas of flaccid skin in the absence of a secondary cause.	MESH:D057088|ORPHA:228272|SNOMEDCT:238829001|UMLS:C0406550
MONDO:0016440	elastofibroma dorsi	biolink:Disease	mondo	Orphanet:228243|UMLS:C0334460|NCIT:C4245|UMLS:CN226932|ICDO:8820/0	ordo_disease	Elastofibroma	http://purl.obolibrary.org/obo/MONDO_0016440	A benign, slow-growing tumor arising from the soft tissues usually in the mid-thoracic region of the elderly. It is characterized by the presence of paucicellular collagenous tissue, adipocytes and a predominance of large coarse elastic fibers arranged in globules.	NCIT:C4245|UMLS:C0334460|ORPHA:228243|UMLS:CN226932
GO:0070161	anchoring junction	biolink:OntologyClass	mondo			anchoring cell junction	http://purl.obolibrary.org/obo/GO_0070161	A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.	
MONDO:0004467	mature gastric teratoma	biolink:Disease	mondo	UMLS:C1334635|NCIT:C5260|DOID:8118		mature teratoma of the stomach|mature gastric teratoma|mature teratoma of stomach|stomach mature teratoma	http://purl.obolibrary.org/obo/MONDO_0004467	A benign teratoma that arises from the stomach.	DOID:8118|UMLS:C1334635|NCIT:C5260
MONDO:0004466	neuronitis	biolink:Disease	mondo	UMLS:C0027881|NCIT:C34847|DOID:8117		neuroinflammation	http://purl.obolibrary.org/obo/MONDO_0004466		DOID:8117|UMLS:C0027881|NCIT:C34847
MONDO:0004469	pseudovascular skin squamous cell carcinoma	biolink:Disease	mondo	UMLS:C1335974|DOID:8122|NCIT:C27542		skin pseudovascular squamous cell carcinoma|pseudovascular skin squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004469		NCIT:C27542|DOID:8122|UMLS:C1335974
MONDO:0004468	anal canal Paget disease	biolink:Disease	mondo	UMLS:C1332261|NCIT:C7477|SCTID:236811000119101|DOID:8119		anal canal mammary Paget's disease|Paget disease of the anal canal|anal canal Paget disease|Paget's disease of anal canal|Paget's disease of the anal canal|anal canal Paget's disease	http://purl.obolibrary.org/obo/MONDO_0004468	Paget disease involving the squamous epithelium of the anal canal.	DOID:8119|SNOMEDCT:236811000119101|UMLS:C1332261|NCIT:C7477
MONDO:0004463	cellular phase chronic idiopathic myelofibrosis	biolink:Disease	mondo	ONCOTREE:PMFPES|UMLS:C1516553|DOID:8106|NCIT:C41237		primary myelofibrosis, Prefibrotic/early stage|Prefibrotic/Early Primary myelofibrosis|chronic idiopathic myelofibrosis, cellular phase|primary myelofibrosis, Prefibrotic stage|PMFPES|Prefibrotic/Early Primary myelofibrosis|chronic idiopathic myelofibrosis, Prefibrotic stage	http://purl.obolibrary.org/obo/MONDO_0004463	Primary myelofibrosis characterized by bone marrow hypercellularity and the presence of atypical megakaryocytes. There is no increase in the percentage of myeloblasts and no significant increase in reticulin or collagen fibrosis in the bone marrow.	NCIT:C41237|UMLS:C1516553|DOID:8106
MONDO:0004462	extrahepatic bile duct cystadenoma	biolink:Disease	mondo	UMLS:C1333504|NCIT:C5851|DOID:8105		cystadenoma of extrahepatic bile duct|extrahepatic bile duct cystadenoma|cystadenoma of the extrahepatic bile duct|extrahepatic bile duct mucinous cystic neoplasm	http://purl.obolibrary.org/obo/MONDO_0004462	A mucinous cystic neoplasm that arises from the extrahepatic bile ducts.	NCIT:C5851|UMLS:C1333504|DOID:8105
MONDO:0004465	periampullary adenocarcinoma	biolink:Disease	mondo	UMLS:C1335377|DOID:8110|NCIT:C27322		periampullary region of duodenum adenocarcinoma|periampullary cancer|periampullary adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004465	An adenocarcinoma that arises from the periampullary region.	DOID:8110|UMLS:C1335377|NCIT:C27322
MONDO:0004464	nephrogenic adenoma of the urethra	biolink:Disease	mondo	DOID:8109|UMLS:C1336889|NCIT:C7416		urethra nephrogenic adenoma|nephrogenic adenoma of urethra|urethral nephrogenic adenoma	http://purl.obolibrary.org/obo/MONDO_0004464	A metaplastic lesion of the urothelium found in the urethra. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi.	DOID:8109|UMLS:C1336889|NCIT:C7416
MONDO:0004461	vaginal tubulovillous adenoma	biolink:Disease	mondo	UMLS:C1519933|NCIT:C40258|DOID:8104		vaginal tubulovillous adenoma	http://purl.obolibrary.org/obo/MONDO_0004461	An adenoma that arises from the vagina and is characterized by a tubulovillous architectural pattern.	NCIT:C40258|UMLS:C1519933|DOID:8104
MONDO:0004460	thyroid gland fetal adenoma	biolink:Disease	mondo	ICDO:8333/0|UMLS:C0334328|DOID:8102|NCIT:C4160		thyroid gland microfollicular adenoma|thyroid fetal adenoma|fetal adenoma|microfollicular adenoma (morphologic abnormality)|microfollicular adenoma	http://purl.obolibrary.org/obo/MONDO_0004460	A thyroid gland adenoma composed of microfollicular structures.	NCIT:C4160|DOID:8102|UMLS:C0334328
MONDO:0016438	linear focal dermal elastosis	biolink:Disease	mondo	Orphanet:228236	ordo_disease	Elastotic striae|linear focal elastosis	http://purl.obolibrary.org/obo/MONDO_0016438	Linear focal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by asymptomatic, palpable, hypertrophic or atrophic, yellowish or red, indurated, horizontal, striae-like linear plaques distributed symmetrically across the mid and lower back. No systemic involvement has been described. Skin biopsy reveals a focal increase in abnormal elastic tissue with abundant, wavy, fragmented and aggregated, basophilic elastic fibers in the reticular dermis.	ORPHA:228236
MONDO:0016439	elastoderma	biolink:Disease	mondo	GARD:0012716|Orphanet:228240|SCTID:238832003|UMLS:C0406555|ICD9:701.8	gard_rare|ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016439	Elastoderma is a rare condition that affects the skin. People affected by elastoderma generally have increased laxity of skin covering a specific area of the body. Decreased recoil of the skin has also been reported. Although any part of the body can be affected, the skin of the neck and extremities (arms and legs, especially at the elbows and/or knees) are most commonly involved. The exact underlying cause is currently unknown; however, it generally occurs sporadically in people with no family history of the condition. There is no standard therapy available for elastoderma. Some cases have been treated with surgical excision (removal of affected skin), but hyperlaxity of skin often returns following the surgery.	ORPHA:228240|UMLS:C0406555|SNOMEDCT:238832003
MONDO:0016434	acquired dermis elastic tissue disorder	biolink:Disease	mondo	UMLS:CN226927|Orphanet:228218	ordo_group_of_disorders	acquired dermis elastic tissue disorder	http://purl.obolibrary.org/obo/MONDO_0016434	An instance of dermis elastic tissue disorder that is acquired during the lifetime of the individual.	ORPHA:228218|UMLS:CN226927
MONDO:0016435	acquired dermis elastic tissue disorder with decreased elastic tissue	biolink:Disease	mondo	UMLS:CN226928|Orphanet:228221	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016435		ORPHA:228221|UMLS:CN226928
MONDO:0041447	metastatic malignant neoplasm in the colon	biolink:Disease	mondo	NCIT:C8411|UMLS:C0346974		metastatic malignant neoplasm in the colon|metastatic tumor to the colon|metastatic neoplasm to the colon|metastatic malignant neoplasm to the colon	http://purl.obolibrary.org/obo/MONDO_0041447	The spread of a malignant neoplasm to the colon. This may be from a primary large intestine malignant neoplasm, or from a malignant neoplasm at a distant site.	NCIT:C8411|UMLS:C0346974
MONDO:0016436	acquired dermis elastic tissue disorder with increased elastic tissue	biolink:Disease	mondo	UMLS:CN226929|Orphanet:228224	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016436		ORPHA:228224|UMLS:CN226929
MONDO:0041448	metastasis from malignant tumor of colon	biolink:Disease	mondo	SCTID:314998002|UMLS:C1282500		metastasis from malignant tumor of colon	http://purl.obolibrary.org/obo/MONDO_0041448		UMLS:C1282500|SNOMEDCT:314998002
MONDO:0016437	late-onset focal dermal elastosis	biolink:Disease	mondo	Orphanet:228227	ordo_disease	pseudoxanthoma-like late-onset focal dermal elastosis|PXE-like late-onset focal dermal elastosis	http://purl.obolibrary.org/obo/MONDO_0016437	Late-onset focal dermal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by a pseudoxanthoma elasticum-like papular eruption consisting of multiple, slowly progressive, asymptomatic, 2-5 mm, white to yellowish, non-follicular papules (that tend to form cobblestone plaques) predominantly distributed over the neck, axillae and flexural areas, with no systemic involvement. Skin biopsy reveals a focal increase of normal-appearing elastic tissue in the reticular dermis with no calcium deposits.	ORPHA:228227
MONDO:0016430	Balo concentric sclerosis	biolink:Disease	mondo	Orphanet:228165|ICD10:G37.0|ICD9:341.1|MedDRA:10010252|DOID:0060215|ICD10:G37.5|SCTID:230380005|UMLS:C0004712|ICD10:G31.81|GARD:0005885	gard_rare|ordo_disease	Balo disease|encephalitis periaxialis concentrica|Marburg variant|Balo's disease|Balo concentric sclerosis|concentric demyelination|diffuse cerebral sclerosis of Schilder|Tumefactive multiple sclerosis|Baló concentric sclerosis|Balo's concentric sclerosis	http://purl.obolibrary.org/obo/MONDO_0016430	Tumefactive multiple sclerosis is characterized by a tumor-like lesion larger than two centimeters and signs and symptoms similar to those of a brain tumor. It is a rare form of multiple sclerosis (MS). Symptoms of tumefactive MS often differ from other MS cases and may include, headaches, changes in thinking, confusion, speech problems, seizures, and weakness. The cause of tumefactive MS is not known. It often develops into the relapsing-remitting form of MS. In other cases there is only one occurrence of the condition. In still others the disease process remains less clear. While there is no cure for tumefactive MS, treatments such as corticosteroids are available to decrease disease activity.	ORPHA:228165|UMLS:C0004712|MEDDRA:10010252|SNOMEDCT:230380005|DOID:0060215
MONDO:0016431	autosomal dominant Charcot-Marie-Tooth disease type 2M	biolink:Disease	mondo	SCTID:719514002|Orphanet:228179|UMLS:CN201389|UMLS:C4304672|ICD10:G60.0	ordo_disease	CMT2M	http://purl.obolibrary.org/obo/MONDO_0016431	Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.	SNOMEDCT:719514002|ORPHA:228179|UMLS:CN201389|UMLS:C4304672
MONDO:0016432	heart-hand syndrome	biolink:Disease	mondo	UMLS:CN201390|ICD10:Q87.2|Orphanet:228184	ordo_group_of_disorders	atriodigital dysplasia	http://purl.obolibrary.org/obo/MONDO_0016432	Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies.	ORPHA:228184|UMLS:CN201390
MONDO:0016433	dysmorphism-short stature-deafness-disorder of sex development syndrome	biolink:Disease	mondo	UMLS:CN201392|Orphanet:2282|ICD10:Q87.8	ordo_malformation_syndrome	Dysmorphism-short stature-deafness-pseudohermaphroditism syndrome	http://purl.obolibrary.org/obo/MONDO_0016433	Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait.	ORPHA:2282|UMLS:CN201392
HGNC:28514	CEP112	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28514		
GO:0070192	chromosome organization involved in meiotic cell cycle	biolink:OntologyClass	mondo			chromosome organisation involved in meiosis|meiotic chromosome organization	http://purl.obolibrary.org/obo/GO_0070192	A process of chromosome organization that is involved in a meiotic cell cycle.	
HGNC:28510	GLIS3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28510		
NCBITaxon:33213	Bilateria	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_33213		
MONDO:0016490	hemoglobin C-beta-thalassemia syndrome	biolink:Disease	mondo	Orphanet:231242|UMLS:CN201488|ICD10:D58.2	ordo_disease	C-beta-thalassemia|HBC-beta-thalassemia syndrome	http://purl.obolibrary.org/obo/MONDO_0016490	Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia resulting in moderate hemolytic anemia.	ORPHA:231242|UMLS:CN201488
MONDO:0016491	hemoglobin E-beta-thalassemia syndrome	biolink:Disease	mondo	UMLS:C0472777|ICD10:D58.2|Orphanet:231249	ordo_disease	E-beta-thalassemia|HbE-beta-thalassemia syndrome	http://purl.obolibrary.org/obo/MONDO_0016491	Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia.	UMLS:C0472777|ORPHA:231249
HGNC:28526	EOGT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28526		
GO:0033152	immunoglobulin V(D)J recombination	biolink:OntologyClass	mondo			immunoglobulin V-D-J joining|immunoglobulin V-J recombination|immunoglobulin V-J joining|immunoglobulin V-D-J recombination|immunoglobulin V(D)J joining	http://purl.obolibrary.org/obo/GO_0033152	The process in which immunoglobulin gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). For immunoglobulin heavy chains V, D, and J gene segments are joined, and for immunoglobulin light chains V and J gene segments are joined.	
GO:0033151	V(D)J recombination	biolink:OntologyClass	mondo			V-D-J recombination|V-D-J joining|V-J recombination|V-J joining|V(D)J joining	http://purl.obolibrary.org/obo/GO_0033151	The process in which immune receptor V, D, and J, or V and J gene segments, depending on the specific receptor, are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS).	
HP:0007513	Generalized hypopigmentation	biolink:PhenotypicFeature	mondo	UMLS:C1849923	hposlim_core	Generalised hypopigmentation|Pale pigmentation|Fair skin	http://purl.obolibrary.org/obo/HP_0007513		
NCBITaxon:33208	Metazoa	organism taxon	mondo	GC_ID:1		metazoans|animals|multicellular animals|Animalia	http://purl.obolibrary.org/obo/NCBITaxon_33208		
MONDO:0016496	pharyngeal-cervical-brachial variant of Guillain-Barre syndrome	biolink:Disease	mondo	UMLS:CN201499|ICD10:G61.0|Orphanet:231426	ordo_disease	pharyngo-cervico-brachial variant of Guillain-Barré syndrome|PCB variant of Guillain-BarrC) syndrome|pharyngo-cervico-brachial variant of GBS|pharyngeal-cervical-brachial weakness|PCB variant of Guillain-Barré syndrome|pharyngeal-cervical-brachial variant of Guillain-Barré syndrome|pharyngo-cervico-brachial variant of Guillain-BarrC) syndrome|PCB variant of GBS	http://purl.obolibrary.org/obo/MONDO_0016496		ORPHA:231426|UMLS:CN201499
MONDO:0016497	paraparetic variant of Guillain-Barre syndrome	biolink:Disease	mondo	Orphanet:231445|UMLS:CN201500|ICD10:G61.0	ordo_disease	paraparetic variant of GBS|paraparetic variant of Guillain-Barré syndrome	http://purl.obolibrary.org/obo/MONDO_0016497	Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guillain-Barré syndrome characterized by isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared, and sphincteric function is normal.	UMLS:CN201500|ORPHA:231445
MONDO:0016498	acute pure sensory neuropathy	biolink:Disease	mondo	Orphanet:231450|UMLS:CN201501|ICD10:G61.0	ordo_disease	acute pure sensory Guillain-Barré syndrome|acute pure sensory GBS|acute pure sensory Guillain-BarrC) syndrome	http://purl.obolibrary.org/obo/MONDO_0016498		UMLS:CN201501|ORPHA:231450
MONDO:0016499	acute pandysautonomia	biolink:Disease	mondo	Orphanet:231457|UMLS:C2315246|ICD10:G61.0|SCTID:430042004	ordo_disease	acute panautonomic Guillain-BarrC) syndrome|acute panautonomic neuropathy|acute panautonomic Guillain-Barré syndrome|acute panautonomic GBS	http://purl.obolibrary.org/obo/MONDO_0016499	Acute pandysautonomia is a rare variant of Guillain-Barré syndrome characterized by acute post-ganglionic sympathetic and parasympathetic failure presenting several weeks after acute infection with gastrointestinal symptoms (abdominal pain, vomiting, constipation, diarrhea, gastroparesis, ileus), orthostatic hypotension, erectile dysfunction, urinary frequency, urgency or retention, vasomotor instability with acrocyanosis and reduced salivation, lacrimation and sweating.	UMLS:C2315246|SNOMEDCT:430042004|ORPHA:231457
GO:0033157	regulation of intracellular protein transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0033157	Any process that modulates the frequency, rate or extent of the directed movement of proteins within cells.	
MONDO:0016492	beta-thalassemia with other manifestations	biolink:Disease	mondo	ICD10:D58.2|Orphanet:231386	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016492	Beta-thalassemias with other manifestations are a group of beta-thalassemias associated with another disorder.	ORPHA:231386
MONDO:0016493	variant of Guillain-Barre syndrome	biolink:Disease	mondo	UMLS:CN201495|ICD10:G61.0|Orphanet:231413	ordo_group_of_disorders	variant of Guillain-Barré syndrome|variant of GBS	http://purl.obolibrary.org/obo/MONDO_0016493		ORPHA:231413|UMLS:CN201495
MONDO:0016494	regional variant of Guillain-Barre syndrome	biolink:Disease	mondo	ICD10:G61.0|UMLS:CN201496|Orphanet:231416	ordo_group_of_disorders	regional variant of Guillain-Barré syndrome|regional variant of GBS	http://purl.obolibrary.org/obo/MONDO_0016494		ORPHA:231416|UMLS:CN201496
MONDO:0016495	functional variant of Guillain-Barre syndrome	biolink:Disease	mondo	UMLS:CN201497|ICD10:G61.0|Orphanet:231419	ordo_group_of_disorders	functional variant of GBS|functional variant of Guillain-Barré syndrome	http://purl.obolibrary.org/obo/MONDO_0016495		ORPHA:231419|UMLS:CN201497
MONDO:0016480	silver-Russell syndrome due to an imprinting defect of 11p15	biolink:Disease	mondo	UMLS:CN201475|ICD10:Q87.1|Orphanet:231140	ordo_etiological_subtype	Silver-Russell syndrome due to an imprinting defect of type 11p15	http://purl.obolibrary.org/obo/MONDO_0016480		ORPHA:231140|UMLS:CN201475
MONDO:0004499	lung hilum carcinoma	biolink:Disease	mondo	NCIT:C7454|UMLS:C1334445|DOID:8207		hilar lung carcinoma|lung hilum carcinoma|carcinoma of lung hilus|lung hilus carcinoma|lung hilum cancer	http://purl.obolibrary.org/obo/MONDO_0004499	A lung carcinoma arising from the hilum of the lung.	NCIT:C7454|DOID:8207|UMLS:C1334445
MONDO:0004496	myocarditis	biolink:Disease	mondo	COHD:314383|SCTID:50920009|MESH:D009205|KEGG:05416|ICD10:I40|DOID:820|UMLS:C0027059|ICD10:I51.4|GARD:0007137|NCIT:C34831|ICD9:429.0	gard_rare	myocardium inflammation|myocardial inflammation|inflammation of myocardium|myocardial inflammation (finding)	http://purl.obolibrary.org/obo/MONDO_0004496	Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. Myocarditis can be caused by a variety of factors including infections (viral, bacterial, parasitic, and fungal), allergic reactions to certain medications, and exposure to certain chemicals. It can also be associated with other inflammatory conditions such as lupus, Wegener's granulomatosis, giant cell arteritis and Takayasu's arteritis. Most cases occur sporadically in people with no family history of the condition. Treatment aims to address the underlying cause of the condition. Medications and rarely, a heart transplant may be needed if the heart muscle becomes weak.	MESH:D009205|DOID:820|NCIT:C34831|SNOMEDCT:50920009|UMLS:C0027059
MONDO:0004495	myotonic cataract	biolink:Disease	mondo	SCTID:64741003|UMLS:C0027128|ICD9:366.43|DOID:82|NCIT:C34833|ICD9:359.29			http://purl.obolibrary.org/obo/MONDO_0004495	A cataract occurring as a sequela of myotonic dystrophy.	NCIT:C34833|DOID:82|UMLS:C0027128|SNOMEDCT:64741003
MONDO:0004498	sacral spinal canal and spinal cord meningioma	biolink:Disease	mondo	NCIT:C5299|UMLS:C1335893|DOID:8203		meningioma of sacral spinal canal and spinal cord|meningioma of the sacral spinal canal and spinal cord|sacral intraspinal meningioma	http://purl.obolibrary.org/obo/MONDO_0004498	A meningioma that arises from the meninges of the sacral region of the spinal cord.	NCIT:C5299|DOID:8203|UMLS:C1335893
MONDO:0004497	tertiary syphilis	biolink:Disease	mondo	UMLS:C0153188|COHD:435739|NCIT:C128414|ICD10:A52|ICD9:097.0|ICD9:095.9|ICD10:A52.9|ICD10:A52.3|MESH:C536774|DOID:8200|SCTID:72083004|ICD9:095.8		late tertiary syphilis|tertiary syphilis|late syphilis	http://purl.obolibrary.org/obo/MONDO_0004497	A stage of syphilis that occurs fifteen to thirty years after the initial infection; it can include gumma formation and cardiovascular or central nervous system involvement (neurosyphilis).	NCIT:C128414|SNOMEDCT:72083004|MESH:C536774|UMLS:C0153188|DOID:8200
MONDO:0004492	mediastinitis	biolink:Disease	mondo	SCTID:47597000|ICD9:519.2|MESH:D008480|ICD10:J98.51|UMLS:C0025064|NCIT:C26827|DOID:819|ICD10:J98.5|COHD:439045			http://purl.obolibrary.org/obo/MONDO_0004492	An inflammatory process affecting the mediastinum.	UMLS:C0025064|MESH:D008480|DOID:819|SNOMEDCT:47597000|NCIT:C26827
MONDO:0004491	uterine corpus choriocarcinoma	biolink:Disease	mondo	NCIT:C27246|ONCOTREE:UCCA|DOID:8188|UMLS:C1336904		choriocarcinoma|gestational uterine corpus choriocarcinoma|body of uterus choriocarcinoma (disease)|uterine corpus gestational choriocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004491	An aggressive malignant tumor arising from trophoblastic cells in the uterus during pregnancy. Approximately half of the cases develop from a complete hydatidiform mole. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected.	NCIT:C27246|DOID:8188|UMLS:C1336904
MONDO:0004494	testicular yolk sac tumor, hepatoid pattern	biolink:Disease	mondo	DOID:8195|UMLS:C1515306|NCIT:C39931		hepatoid pattern testicular yolk sac tumor|testicular yolk sac tumor, hepatoid pattern	http://purl.obolibrary.org/obo/MONDO_0004494	A yolk sac tumor that arises from the testis and is characterized by the presence of hepatoid cells collections.	DOID:8195|NCIT:C39931|UMLS:C1515306
MONDO:0004493	testicular yolk sac tumor, papillary pattern	biolink:Disease	mondo	DOID:8193|UMLS:C1515310|NCIT:C39928		papillary pattern testicular yolk sac tumor|testicular yolk sac tumor, papillary pattern	http://purl.obolibrary.org/obo/MONDO_0004493	A yolk sac tumor that arises from the testis and is characterized by the presence of numerous papillary structures that are lined by cells with prominent nucleoli.	NCIT:C39928|DOID:8193|UMLS:C1515310
HGNC:16517	TMPRSS6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16517		
MONDO:0004490	gestational uterine corpus choriocarcinoma	biolink:Disease	mondo	DOID:8187		gestational choriocarcinoma of body of uterus|body of uterus gestational choriocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004490	A gestational choriocarcinoma that involves the body of uterus.	DOID:8187
MONDO:0016489	delta-beta-thalassemia	biolink:Disease	mondo	Orphanet:231237|ICD10:D56.2|NCIT:C172823|ICD9:282.49|MESH:C562716|SCTID:16360009|MedDRA:10012236	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016489	Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis.	ORPHA:231237|UMLS:C0271985|NCIT:C172823|MESH:C562716|MEDDRA:10012236|SNOMEDCT:16360009
CARO:0030000	biological entity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/CARO_0030000		
HGNC:16513	TMC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16513		
MONDO:0016485	Usher syndrome type 3	biolink:Disease	mondo	Orphanet:231183|UMLS:C1568248|GARD:0005442|NCIT:C126329|ICD10:H35.5|DOID:0110828	ordo_clinical_subtype	USH3	http://purl.obolibrary.org/obo/MONDO_0016485	A syndrome characterized by postlingual progressive hearing loss, abnormalities in the vestibular system, and onset of retinitis pigmentosa symptoms usually by the second decade of life.	UMLS:C1568248|NCIT:C126329|DOID:0110828|ORPHA:231183
HGNC:16510	FBXO31	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16510		
MONDO:0016486	beta-thalassemia major	biolink:Disease	mondo	Orphanet:231214|NCIT:C129699|SCTID:26682008|ICD9:282.49|ICD10:D56.1	ordo_clinical_subtype	Mediterranean anemia|Cooley's Anemia|Cooley anemia|Beta thalassemia Major	http://purl.obolibrary.org/obo/MONDO_0016486	Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions.	NCIT:C129699|SNOMEDCT:26682008|ORPHA:231214
MONDO:0016487	beta-thalassemia intermedia	biolink:Disease	mondo	MedDRA:10062923|SCTID:191189009|Orphanet:231222|ICD9:282.49|ICD10:D56.1	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0016487	Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion.	MEDDRA:10062923|SNOMEDCT:191189009|UMLS:C0472767|ORPHA:231222
HGNC:16512	BSND	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16512		
MONDO:0016488	beta-thalassemia associated with another hemoglobin anomaly	biolink:Disease	mondo	ICD10:D58.2|Orphanet:231230	ordo_group_of_disorders	Beta-thalassemia associated with another Hb anomaly	http://purl.obolibrary.org/obo/MONDO_0016488	Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia ].	ORPHA:231230
MONDO:0016481	silver-Russell syndrome due to 11p15 microduplication	biolink:Disease	mondo	UMLS:CN201476|Orphanet:231144|ICD10:Q87.1	ordo_etiological_subtype		http://purl.obolibrary.org/obo/MONDO_0016481		ORPHA:231144|UMLS:CN201476
GO:0033145	positive regulation of intracellular steroid hormone receptor signaling pathway	biolink:OntologyClass	mondo			positive regulation of steroid hormone receptor signalling pathway|positive regulation of steroid hormone receptor signaling pathway	http://purl.obolibrary.org/obo/GO_0033145	Any process that activates or increases the frequency, rate or extent of the activity of any intracellular steroid hormone receptor signaling pathway.	
MONDO:0016482	silver-Russell syndrome due to maternal uniparental disomy of chromosome 11	biolink:Disease	mondo	Orphanet:231147|UMLS:CN201477|ICD10:Q87.1	ordo_etiological_subtype	UPD(11)mat|Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 11	http://purl.obolibrary.org/obo/MONDO_0016482		ORPHA:231147|UMLS:CN201477
GO:0033144	negative regulation of intracellular steroid hormone receptor signaling pathway	biolink:OntologyClass	mondo			negative regulation of steroid hormone receptor signaling pathway|negative regulation of steroid hormone receptor signalling pathway	http://purl.obolibrary.org/obo/GO_0033144	Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of any intracellular steroid hormone receptor signaling pathway.	
MONDO:0016483	intracranial berry aneurysm	biolink:Disease	mondo	Orphanet:231160|HP:0007029|SCTID:703226008|ICD10:I67.1|UMLS:CN230268|DOID:0060228|OMIMPS:105800|ICD10:I60.7	ordo_disease	familial berry aneurysm|aneurysm, intracranial berry|saccular cerebral aneurysm|familial intracranial saccular aneurysm|familial cerebral saccular aneurysm|familial aneurysmal subarachnoid hemorrhage	http://purl.obolibrary.org/obo/MONDO_0016483	An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm.	DOID:0060228|SNOMEDCT:703226008|ORPHA:231160|UMLS:CN230268
GO:0033143	regulation of intracellular steroid hormone receptor signaling pathway	biolink:OntologyClass	mondo			regulation of steroid hormone receptor signaling pathway|regulation of steroid hormone receptor signalling pathway	http://purl.obolibrary.org/obo/GO_0033143	Any process that modulates the frequency, rate or extent of the activity of any intracellular steroid hormone receptor signaling pathway.	
MONDO:0016484	Usher syndrome type 2	biolink:Disease	mondo	UMLS:C0339534|ICD10:H35.5|Orphanet:231178|NCIT:C126328|SCTID:232058008|DOID:0110827	ordo_clinical_subtype|clingen	USH2	http://purl.obolibrary.org/obo/MONDO_0016484	A syndrome characterized by congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies, no abnormalities in the vestibular system, and retinitis pigmentosa.	UMLS:C0339534|SNOMEDCT:232058008|NCIT:C126328|DOID:0110827|ORPHA:231178|UMLS:C1568249
NCBITaxon:1979161	Human rubulavirus 4	organism taxon	mondo	GC_ID:1		Human parainfluenza virus type 4|HPIV type 4|Human parainfluenza virus 4|Parainfluenza virus type 4|HPIV4	http://purl.obolibrary.org/obo/NCBITaxon_1979161		
NCBITaxon:1979160	Human rubulavirus 2	organism taxon	mondo	GC_ID:1		Human parainfluenza virus type 2|PIV-2|Human parainfluenza virus 2|Human parainfluenza 2 virus|Parainfluenza virus type 2|HPIV2|HPIV-2	http://purl.obolibrary.org/obo/NCBITaxon_1979160		
MONDO:0016478	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion	biolink:Disease	mondo	UMLS:CN201473|Orphanet:231130|ICD10:Q87.3	ordo_etiological_subtype		http://purl.obolibrary.org/obo/MONDO_0016478		ORPHA:231130|UMLS:CN201473
NCBITaxon:1979165	Mumps rubulavirus	organism taxon	mondo	GC_ID:1		Mumps virus	http://purl.obolibrary.org/obo/NCBITaxon_1979165		
MONDO:0016479	silver-Russell syndrome due to 7p11.2p13 microduplication	biolink:Disease	mondo	Orphanet:231137|ICD10:Q87.1|UMLS:CN201474	ordo_etiological_subtype	Silver-Russell syndrome due to trisomy 7p11.2-p13|Silver-Russell syndrome due to dup(7)(p11.2p13)|Silver-Russell syndrome due to 7p11.2-p13 microduplication|Silver-Russell syndrome due to trisomy 7p11.2p13	http://purl.obolibrary.org/obo/MONDO_0016479		ORPHA:231137|UMLS:CN201474
MONDO:0041403	toxic amblyopia	biolink:Disease	mondo	SCTID:30483005		nutritional optic neuropathy|tobacco amblyopia	http://purl.obolibrary.org/obo/MONDO_0041403	A condition where a toxic reaction in the optic nerve results in visual loss. Various poisonous substances may cause the condition as well as nutritional factors.	SNOMEDCT:30483005
MONDO:0016474	drug-induced lupus erythematosus	biolink:Disease	mondo	DOID:0040093|NCIT:C114354|MedDRA:10013706|SCTID:80258006|Orphanet:231111|ICD10:M32.0|UMLS:C0263591	ordo_disease	DIL|drug-induced lupus|DILE|drug induced lupus|drug induced lupus erythematosus	http://purl.obolibrary.org/obo/MONDO_0016474	An autoimmune disorder, similar to systemic lupus erythematosus, that is caused by certain drugs.	NCIT:C114354|UMLS:C0263591|SNOMEDCT:80258006|DOID:0040093|MEDDRA:10013706|ORPHA:231111
MONDO:0016475	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15	biolink:Disease	mondo	Orphanet:231117|ICD10:Q87.3|UMLS:CN201470	ordo_etiological_subtype	Beckwith-Wiedemann syndrome due to imprinting defect of type 11p15	http://purl.obolibrary.org/obo/MONDO_0016475		ORPHA:231117|UMLS:CN201470
MONDO:0016476	Beckwith-Wiedemann syndrome due to CDKN1C mutation	biolink:Disease	mondo	Orphanet:231120|UMLS:CN201471|ICD10:Q87.3	ordo_etiological_subtype		http://purl.obolibrary.org/obo/MONDO_0016476		ORPHA:231120|UMLS:CN201471
MONDO:0016477	Beckwith-Wiedemann syndrome due to 11p15 microdeletion	biolink:Disease	mondo	ICD10:Q87.3|Orphanet:231127|UMLS:CN201472	ordo_etiological_subtype		http://purl.obolibrary.org/obo/MONDO_0016477		ORPHA:231127|UMLS:CN201472
MONDO:0016470	Ehlers-Danlos/osteogenesis imperfecta syndrome	biolink:Disease	mondo	MESH:C565178|UMLS:CN201460|Orphanet:230857|OMIMPS:619115|ICD10:Q79.6	ordo_disease	EDS/OI syndrome	http://purl.obolibrary.org/obo/MONDO_0016470	Ehlers-Danlos/osteogenesis imperfecta syndrome is an association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.	UMLS:CN201460|MESH:C565178|ORPHA:230857
MONDO:0016471	pachyonychia congenita	biolink:Disease	mondo	GARD:0010753|OMIMPS:167200|UMLS:C0265334|ICD10:Q84.5|MESH:D053549|Orphanet:2309|NCIT:C84986|DOID:0050449	gard_rare|ordo_disease	pachyonychia congenita, Jadassohn-Lewandowsky type|pachyonychia congenita type 1|Jackson-Lawler type pachyonychia congenita|pachyonychia congenita syndrome|PC|congenital pachyonychia|Jadassohn-Lewandowsky syndrome	http://purl.obolibrary.org/obo/MONDO_0016471	Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.	UMLS:C0265334|DOID:0050449|MESH:D053549|NCIT:C84986|ORPHA:2309
MONDO:0016472	dracunculiasis	biolink:Disease	mondo	UMLS:C0013100|SCTID:396334002|NCIT:C84677|MedDRA:10013618|MESH:D004320|DOID:14418|ICD10:B72|Orphanet:231|GARD:0006286|EFO:0007241|ICD9:125.7	ordo_disease|gard_rare	dracontiasis|Dracunculus medinensis infectious disease|Dracunculus medinensis caused disease or disorder|parasitic infection caused by Dracunculus medinensis|Dracunculus medinensis disease or disorder|infection by Dracunculus medinensis|medinensis|Guinea worm infection|GWD|Guinea worm disease|Dracunculosis|Medina worm disease	http://purl.obolibrary.org/obo/MONDO_0016472	Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the Dracunculus medinensis parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (Cyclops spp., microcrustacea also called water fleas).	UMLS:C0013100|SNOMEDCT:396334002|ORPHA:231|DOID:14418|MESH:D004320|NCIT:C84677|MEDDRA:10013618
MONDO:0016473	familial rhabdoid tumor	biolink:Disease	mondo	UMLS:CN201468|ICD10:C49.9|NCIT:C93268|Orphanet:231108|OMIMPS:609322|UMLS:C2985524	ordo_clinical_subtype	hereditary rhabdoid tumor|RTPS|rhabdoid predisposition syndrome|rhabdoid tumor predisposition syndrome|familial posterior fossa brain tumor syndrome of infancy	http://purl.obolibrary.org/obo/MONDO_0016473	A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma.	UMLS:CN201468|NCIT:C93268|UMLS:C2985524|ORPHA:231108
CHEBI:24400	glycoside	biolink:ChemicalSubstance	mondo			glycosides|O-glycosides|O-glycoside|glycosides	http://purl.obolibrary.org/obo/CHEBI_24400	A glycosyl compound resulting from the attachment of a glycosyl group to a non-acyl group RO-, RS-, RSe-, etc. The bond between the glycosyl group and the non-acyl group is called a glycosidic bond. By extension, the terms N-glycosides and C-glycosides are used as class names for glycosylamines and for compounds having a glycosyl group attached to a hydrocarbyl group respectively. These terms are misnomers and should not be used. The preferred terms are glycosylamines and C-glycosyl compounds, respectively.	
GO:1901606	alpha-amino acid catabolic process	biolink:OntologyClass	mondo			alpha-amino acid degradation|alpha-amino acid catabolism|alpha-amino acid breakdown	http://purl.obolibrary.org/obo/GO_1901606	The chemical reactions and pathways resulting in the breakdown of an alpha-amino acid.	
GO:1901607	alpha-amino acid biosynthetic process	biolink:OntologyClass	mondo			alpha-amino acid biosynthesis|alpha-amino acid anabolism|alpha-amino acid synthesis|alpha-amino acid formation	http://purl.obolibrary.org/obo/GO_1901607	The chemical reactions and pathways resulting in the formation of an alpha-amino acid.	
GO:1901605	alpha-amino acid metabolic process	biolink:OntologyClass	mondo			alpha-amino acid metabolism	http://purl.obolibrary.org/obo/GO_1901605	The chemical reactions and pathways involving an alpha-amino acid.	
CHEBI:24402	glycosphingolipid	biolink:ChemicalSubstance	mondo			glycosphingolipids	http://purl.obolibrary.org/obo/CHEBI_24402	A glycosphingolipid is a glycolipid that is a carbohydrate-containing derivative of a sphingoid or ceramide. It is understood that the carbohydrate residue is attached by a glycosidic linkage to O-1 of the sphingoid.	
GO:0045117	azole transmembrane transport	biolink:OntologyClass	mondo			azole transport	http://purl.obolibrary.org/obo/GO_0045117	The directed movement of azoles, heterocyclic compounds found in many biologically important substances, across a lipid bilayer, across a membrane.	
UBERON:0001271	pelvic girdle region	biolink:AnatomicalEntity	mondo			pelvic girdle|girdle - pelvic	http://purl.obolibrary.org/obo/UBERON_0001271	The organism subdivision that includes the pelvic girdle skeleton and associated soft tissue. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). Examples: There are only two instances in an organism, right and left pectoral girdle regions.	
UBERON:0001270	bony pelvis	biolink:AnatomicalEntity	mondo			skeletal system of pelvis|pelvis ossea	http://purl.obolibrary.org/obo/UBERON_0001270	A ring of bone formed by the sacrum and the first few coccygeal vertebrae as the roof, the pubis and ischia as the floor and the ilia and the acetabular part of the ischia as the walls.	
UBERON:0001273	ilium	biolink:AnatomicalEntity	mondo			os ilii|iliac bone|ilium bone|os iliacum|illium|os ilium	http://purl.obolibrary.org/obo/UBERON_0001273	Paired endochondral bone that is the dorsal-most of the pelvic bones, offering attachment areas for gluteal muscles on its main surface [PHENOSCAPE:ad].	
UBERON:0001272	innominate bone	biolink:AnatomicalEntity	mondo			innominate bone|coxal bone|bone of pelvic girdle|pelvic bone|innominate|basipterygium|os innominatum|hip bone|os coxae|os coxa	http://purl.obolibrary.org/obo/UBERON_0001272	A fused bone consisting of the ilium, ischium and and pubis. Together with the sacrum and coccyx, it comprises the pelvis. [WP,modified].	
UBERON:0001279	portal triad	biolink:AnatomicalEntity	mondo			trias hepatica|trias hepatica	http://purl.obolibrary.org/obo/UBERON_0001279	A multi-organ-part structure that consists of three vessels of the portal lobule including the bile duct, a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel	
UBERON:0001278	epithelium of large intestine	biolink:AnatomicalEntity	mondo			epithelial tissue of large intestine|large intestine epithelial tissue|large intestinal epithelium|large intestine epithelium	http://purl.obolibrary.org/obo/UBERON_0001278	An epithelium that is part of a large intestine [Automatically generated definition].	
GO:0060759	regulation of response to cytokine stimulus	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060759	Any process that modulates the rate, frequency, or extent of a response to cytokine stimulus.	
NCBITaxon:33259	Toxocaridae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_33259		
NCBITaxon:33256	Ascaridoidea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_33256		
UBERON:0001275	pubis	biolink:AnatomicalEntity	mondo			pubis bone|pubic bone|os pubis	http://purl.obolibrary.org/obo/UBERON_0001275	A paired endochondral bone making up the anteroventral region of the tripartite pelvic girdle forming part of the ventral edge of the acetabulum. The origin site of many proximal hindlimb muscles. [PHENOSCAPE:ad].	
UBERON:0001274	ischium	biolink:AnatomicalEntity	mondo			ischial bone|os ischii|ischium bone	http://purl.obolibrary.org/obo/UBERON_0001274	Endochondral bone that is paired, forming the posterior part of the pelvis, articulating with the pubis and ilium.	
UBERON:0001277	intestinal epithelium	biolink:AnatomicalEntity	mondo			epithelium of bowel|epithelial tissue of bowel|bowel epithelial tissue|intestine epithelium|epithelium of intestine|bowel epithelium|epithelial tissue of intestine|intestine epithelial tissue|villous epithelium	http://purl.obolibrary.org/obo/UBERON_0001277	Epithelial layer that lines the intestine.	
UBERON:0001276	epithelium of stomach	biolink:AnatomicalEntity	mondo			gastric epithelium|stomach epithelial tissue|stomach epithelium|ventriculus epithelium|epithelium of ventriculus|epithelial tissue of ventriculus|ventriculus epithelial tissue|epithelial tissue of stomach	http://purl.obolibrary.org/obo/UBERON_0001276	The epithelial layer of the stomach .	
MONDO:0004405	Barrett adenocarcinoma	biolink:Disease	mondo	NCIT:C7027|DOID:7941|EFO:1001939|UMLS:C1332460|SCTID:721617001		Barrett adenocarcinoma|Barrett's adenocarcinoma|adenocarcinoma arising in Barrett's mucosa	http://purl.obolibrary.org/obo/MONDO_0004405	An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas. -- 2002	DOID:7941|UMLS:C1332460|NCIT:C7027|SNOMEDCT:721617001
MONDO:0004404	refractory precursor T-lymphoblastic lymphoma/leukemia	biolink:Disease	mondo	DOID:7936|UMLS:C0854859|NCIT:C8696		refractory precursor T-lymphoblastic lymphoma/leukemia|refractory T lymphoblastic leukemia/lymphoma|precursor T lymphoblastic lymphoma/leukemia refractory	http://purl.obolibrary.org/obo/MONDO_0004404	T-lymphoblastic leukemia/lymphoma resistant to treatment	DOID:7936|NCIT:C8696|UMLS:C0854859
MONDO:0004407	stroma-dominant and stroma-poor composite ganglioneuroblastoma	biolink:Disease	mondo	DOID:7949|UMLS:C1516761|NCIT:C42060		composite ganglioneuroblastoma, Stroma-dominant and Stroma-poor	http://purl.obolibrary.org/obo/MONDO_0004407	A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which is the predominant component of the tumor volume.	UMLS:C1516761|DOID:7949|NCIT:C42060
UBERON:0013240	future glans clitoris	biolink:AnatomicalEntity	mondo			glans of female genital tubercle	http://purl.obolibrary.org/obo/UBERON_0013240	A future glans that is part of a female genital tubercle.	
GO:1901617	organic hydroxy compound biosynthetic process	biolink:OntologyClass	mondo			organic hydroxy compound anabolism|organic hydroxy compound synthesis|organic hydroxy compound formation|organic hydroxy compound biosynthesis	http://purl.obolibrary.org/obo/GO_1901617	The chemical reactions and pathways resulting in the formation of organic hydroxy compound.	
MONDO:0004406	adult central nervous system mixed germ cell tumor	biolink:Disease	mondo	NCIT:C27402|DOID:7945|UMLS:C1332195		Central nervous system Mixed germ cell tumor|mixed germ cell tumor of central nervous system of adults|adult mixed germ cell tumor of central nervous system|adult central nervous system mixed germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0004406	A mixed germ cell tumor of central nervous system that occurs in an adult.	UMLS:C1332195|DOID:7945|NCIT:C27402
UBERON:0013241	embryonic urethral groove	biolink:AnatomicalEntity	mondo			urethral groove|urethral sulcus|sulcus urethralis primarius	http://purl.obolibrary.org/obo/UBERON_0013241	The precursor of the urethra	
MONDO:0004401	testis refractory cancer	biolink:Disease	mondo	UMLS:C1377904|DOID:7928|NCIT:C9077		refractory cancer of the testis|refractory testicular cancer|refractory malignant testicular germ cell tumor|refractory testicular carcinoma|refractory cancer of testis	http://purl.obolibrary.org/obo/MONDO_0004401	Malignant testicular germ cell tumor that is resistant to treatment.	NCIT:C9077|UMLS:C1377904|DOID:7928
GO:1901615	organic hydroxy compound metabolic process	biolink:OntologyClass	mondo			organic hydroxy compound metabolism	http://purl.obolibrary.org/obo/GO_1901615	The chemical reactions and pathways involving organic hydroxy compound.	
MONDO:0004400	malignant type A thymoma	biolink:Disease	mondo	NCIT:C7999|UMLS:C0279707|ICDO:8581/3|DOID:7927		thymoma, medullary, malignant|malignant type A thymoma	http://purl.obolibrary.org/obo/MONDO_0004400	A type A thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize.	UMLS:C0279707|NCIT:C7999|DOID:7927
GO:1901616	organic hydroxy compound catabolic process	biolink:OntologyClass	mondo			organic hydroxy compound degradation|organic hydroxy compound catabolism|organic hydroxy compound breakdown	http://purl.obolibrary.org/obo/GO_1901616	The chemical reactions and pathways resulting in the breakdown of organic hydroxy compound.	
MONDO:0004403	childhood precursor T-lymphoblastic lymphoma/leukemia	biolink:Disease	mondo	UMLS:C1332997|DOID:7933|NCIT:C5640		childhood precursor T-lymphoblastic lymphoma/leukemia|precursor T-lymphoblastic lymphoma/leukemia of childhood|childhood T lymphoblastic leukemia/lymphoma|pediatric precursor T-lymphoblastic lymphoma/leukemia|pediatric precursor T-lymphoblastic lymphoma/leukemia	http://purl.obolibrary.org/obo/MONDO_0004403	A T lymphoblastic leukemia/lymphoma that occurs during childhood.	DOID:7933|UMLS:C1332997|NCIT:C5640
MONDO:0004402	testicular yolk sac tumor, glandular-alveolar pattern	biolink:Disease	mondo	NCIT:C39926|DOID:7930|UMLS:C1515305		glandular-alveolar pattern testicular yolk sac tumor|testicular yolk sac tumor, glandular-alveolar pattern	http://purl.obolibrary.org/obo/MONDO_0004402	A yolk sac tumor that arises from the testis and is characterized by the presence of gland-like spaces, irregular alveoli, and tubular structures.	DOID:7930|NCIT:C39926|UMLS:C1515305
UBERON:0013247	male paramesonephric duct	biolink:AnatomicalEntity	mondo			degenerating mesonephric portion of male paramesonephric duct	http://purl.obolibrary.org/obo/UBERON_0013247	A epithelial tube that develops from a Mullerian duct in a male. Later degenerates.	
GO:0045124	regulation of bone resorption	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0045124	Any process that modulates the frequency, rate or extent of bone tissue loss (resorption).	
GO:0045121	membrane raft	biolink:OntologyClass	mondo			GEM domain|glycolipid-enriched membrane domain|lipid raft	http://purl.obolibrary.org/obo/GO_0045121	Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions.	
UBERON:0037237	wall of lacrimal duct	biolink:AnatomicalEntity	mondo			lacrimal ductal wall	http://purl.obolibrary.org/obo/UBERON_0037237		
UBERON:0001260	serosa of urinary bladder	biolink:AnatomicalEntity	mondo			urinary bladder serous membrane|serous coat of urinary bladder|serosa of bladder|tunica serosa (vesica urinaria)|serous membrane of urinary bladder|bladder serous membrane|bladder serosa|serous coat of bladder|visceral peritoneum of urinary bladder|serous membrane of bladder|tunica serosa vesicae|urinary bladder serosa	http://purl.obolibrary.org/obo/UBERON_0001260	A serous membrane that is part of a urinary bladder [Automatically generated definition].	
UBERON:0001262	wall of intestine	biolink:AnatomicalEntity	mondo			anatomical wall of bowel|intestine wall|intestine anatomical wall|wall of bowel|anatomical wall of intestine|bowel wall|bowel anatomical wall|bowel wall|intestinal wall	http://purl.obolibrary.org/obo/UBERON_0001262	An anatomical wall that is part of a intestine [Automatically generated definition].	
UBERON:0001261	lamina propria of urinary bladder	biolink:AnatomicalEntity	mondo			urinary bladder lamina propria|urinary bladder lamina propria mucosa|lamina propria of bladder|lamina propria mucosae of bladder|bladder lamina propria mucosa|lamina propria mucosa of urinary bladder|bladder lamina propria mucosae|bladder lamina propria|lamina propria mucosa of bladder|urinary bladder lamina propria mucosae|lamina propria mucosae of urinary bladder	http://purl.obolibrary.org/obo/UBERON_0001261	A lamina propria that is part of a urinary bladder [Automatically generated definition].	
UBERON:0013239	future glans penis	biolink:AnatomicalEntity	mondo			glans of male genital tubercle	http://purl.obolibrary.org/obo/UBERON_0013239	A future glans that is part of a male genital tubercle.	
UBERON:0001268	peritoneal fluid	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0001268	Transudate contained in the peritoneal cavity.	
UBERON:0001267	femoral nerve	biolink:AnatomicalEntity	mondo			nervus femoralis|anterior crural nerve	http://purl.obolibrary.org/obo/UBERON_0001267	The femoral nerve, the largest branch of the lumbar plexus, arises from the ventral divisions of the second, third, and fourth lumbar nerves. It descends through the fibers of the Psoas major, emerging from the muscle at the lower part of its lateral border, and passes down between it and the Iliacus, behind the iliac fascia; it then runs beneath the inguinal ligament, into the thigh, and splits into an anterior and a posterior division. Under the inguinal ligament, it is separated from the femoral artery by a portion of the Psoas major. [WP,unvetted].	
HGNC:16501	PDLIM4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16501		
UBERON:0001264	pancreas	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0001264	An endoderm derived structure that produces precursors of digestive enzymes and blood glucose regulating enzymes[GO].	
UBERON:0001263	pancreatic acinus	biolink:AnatomicalEntity	mondo			acinus pancreaticus|pancreatic acinar|pancreas acinus|pancreatic acini	http://purl.obolibrary.org/obo/UBERON_0001263	The secretory units of the exocrine pancreas, where fluid containing digestive enzymes is produced; consists of a group of secretory cells surrounding a luminal space that connects to the pancreatic duct.	
UBERON:0001265	trabecula of spleen	biolink:AnatomicalEntity	mondo			splenic trabecula|spleen trabeculum	http://purl.obolibrary.org/obo/UBERON_0001265	A trabecula that is part of a spleen.	
NCBITaxon:45219	Guanarito mammarenavirus	organism taxon	mondo	GC_ID:1		GTOV|Guanarito virus|Guanarito arenavirus	http://purl.obolibrary.org/obo/NCBITaxon_45219		
UBERON:0013235	ventrum	biolink:AnatomicalEntity	mondo			ventral region of organism|ventral part of organism|ventral region|front|front of body proper	http://purl.obolibrary.org/obo/UBERON_0013235	A major organism subdivisionthat is the entire part of an anatomical structure ventral to a horizontal plane and bounded on one side by the same horizontal plane.	
UBERON:0013238	future glans	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0013238		
UBERON:0013231	sebaceous gland of eyelid	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0013231	Any of the sebaceous glands that are in the eyelid. Examples: gland of Zeis (services eyelashes), gland of Meibom (tarsal gland - unconnected to eyelids).	
UBERON:0013232	serous acinus	biolink:AnatomicalEntity	mondo			acinus of serous gland	http://purl.obolibrary.org/obo/UBERON_0013232	The secretory unit of a serous gland. The acinar portion is composed of serous secreting cells.	
GO:0045132	meiotic chromosome segregation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0045132	The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets during M phase of the meiotic cell cycle.	
FOODON:03420110	peel, core or seed	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03420110		
UBERON:0001251	marginal zone of spleen	biolink:AnatomicalEntity	mondo			spleen marginal zone|marginal zone|junctional zone of spleen	http://purl.obolibrary.org/obo/UBERON_0001251	the zone between the red and white pulp of the spleen containing numerous macrophages and lymphocytes, and a rich plexus of sinusoids supplied by white pulp arterioles carrying blood-borne antigens	
UBERON:0001250	red pulp of spleen	biolink:AnatomicalEntity	mondo			pulpa splenica|spleen red pulp|red pulp|pulpa rubra|splenic red pulp	http://purl.obolibrary.org/obo/UBERON_0001250	the parenchymatous tissue network of the spleen that consists of loose plates or cords (sinuses) infiltrated with red blood cells where most of the blood filtration occurs and degenerate erythrocytes are removed from the circulation	
UBERON:0013228	sweat gland of eyelid	biolink:AnatomicalEntity	mondo			ciliary sweat gland of eyelid|ciliary gland|ciliary gland of moll|Moll's gland|gland of Moll	http://purl.obolibrary.org/obo/UBERON_0013228	Glands of Moll, also known as ciliary glands, are modified apocrine sweat glands that are found on the margin of the eyelid. They are next to the base of the eyelashes, and anterior to the Meibomian glands within the distal eyelid margin. These glands are relatively large and tubular-shaped. The glands of Moll are named after Dutch oculist Jacob Anton Moll (1832-1914). Glands of Moll empty into the adjacent lashes. Glands of Moll and Zeis secrete lipid that adds to the superficial layer of the tear film, retarding evaporation. The glands of Moll are prone to infection and blockage of its duct with sebum and cell debris. Blockage of the gland's duct causes swelling which can manifest itself as a stye.	
UBERON:0013229	eyelid gland	biolink:AnatomicalEntity	mondo			gland of eyelid	http://purl.obolibrary.org/obo/UBERON_0013229	Any gland that is part of an eyelid. This includes sebaceous glands (Zeis gland, tarsal gland) and sweat glands (Moll's gland).	
FOODON:03420113	mammalian milk or milk component	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03420113	A broad term that includes milk and its components, cream, curd and whey; use the appropriate specific term when milk or a milk product is the principal ingredient. Use the appropriate term under *MEAT ANIMAL* to index the source of the milk (note: 21 CFR 131.110 defines milk as cow's milk).	
UBERON:0025261	thalamic fiber tract	biolink:AnatomicalEntity	mondo			thalamic fiber tracts	http://purl.obolibrary.org/obo/UBERON_0025261		
UBERON:0001257	trigone of urinary bladder	biolink:AnatomicalEntity	mondo			deep trigone|trigonum vesicae|urinary bladder trigone|vesical trigone|trigone of bladder|Lieutaud's trigone|dorsal bladder neck|bladder trigone|musculus trigoni vesicae profundus|trigonum vesicae urinariae	http://purl.obolibrary.org/obo/UBERON_0001257	the smooth triangular region of the wall of the urinary bladder formed by the two ureteral orifices and the internal urethral orifice; it is an area in which the muscle fibers are closely adherent to the mucosa	
UBERON:0001256	wall of urinary bladder	biolink:AnatomicalEntity	mondo			bladder wall|anatomical wall of bladder|urinary bladder anatomical wall|wall of bladder|urinary bladder wall|bladder anatomical wall|anatomical wall of urinary bladder	http://purl.obolibrary.org/obo/UBERON_0001256	An anatomical wall that lines the insider of a urinary bladder.	
UBERON:0001259	mucosa of urinary bladder	biolink:AnatomicalEntity	mondo			bladder mucous membrane|tunica mucosa vesicae urinariae|tunica mucosa (vesica urinaria)|mucous membrane of urinary bladder|bladder mucosa|bladder organ mucosa|urinary bladder mucous membrane|mucous membrane of bladder|tunica mucosa vesicae|mucosa of bladder|urinary bladder mucosa	http://purl.obolibrary.org/obo/UBERON_0001259	the mucous membrane lining the urinary bladder	
FOODON:03420116	part of organism	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03420116	Anatomical part of the plant or animal from which a food product or its major ingredient is derived.	
UBERON:0001258	neck of urinary bladder	biolink:AnatomicalEntity	mondo			vesical neck|collum vesicae|urinary bladder neck|neck of bladder|cervix vesicae urinariae|bladder neck|cervix vesicae	http://purl.obolibrary.org/obo/UBERON_0001258	The constricted portion of the urinary bladder, formed by the meeting of its inferolateral surfaces proximal to the opening of the urethra[MP].	
UBERON:0001253	lamina propria of ureter	biolink:AnatomicalEntity	mondo			ureter lamina propria|lamina propria mucosae of ureter|ureter lamina propria mucosa|lamina propria mucosa of ureter|ureter lamina propria mucosae	http://purl.obolibrary.org/obo/UBERON_0001253	A lamina propria that is part of a ureter [Automatically generated definition].	
UBERON:0001252	adventitia of ureter	biolink:AnatomicalEntity	mondo			tunica adventitia ureteris|external adventitia of ureter|ureter adventitia|tunica adventitia (ureter)|ureteral adventitia	http://purl.obolibrary.org/obo/UBERON_0001252	An adventitia that is part of a ureter.	
UBERON:0001255	urinary bladder	biolink:AnatomicalEntity	mondo			urocyst|vesica|bladder|vesica urinaria	http://purl.obolibrary.org/obo/UBERON_0001255	distensible musculomembranous organ situated in the anterior part of the pelvic cavity in which urine collects before excretion[MP].	
UBERON:0001254	urothelium of ureter	biolink:AnatomicalEntity	mondo			ureter luminal urothelium|ureter transitional epithelium|ureter urothelium|transitional epithelium of ureter	http://purl.obolibrary.org/obo/UBERON_0001254	The luminal epithelium of the tube that conducts the urine from the renal pelvis to the bladder[MP]	
UBERON:0001238	lamina propria of small intestine	biolink:AnatomicalEntity	mondo			lamina propria mucosae of small intestine|lamina propria mucosa of small bowel|small intestine lamina propria mucosa|small bowel lamina propria mucosae|lamina propria of small bowel|small bowel lamina propria|lamina propria of mucosa of small intestine|lamina propria mucosae of small bowel|lamina propria mucosa of small intestine|small bowel lamina propria mucosa|small intestine lamina propria mucosae|small intestine lamina propria	http://purl.obolibrary.org/obo/UBERON_0001238	Lamina propria that is part_of the small intestine.	
GO:0045144	meiotic sister chromatid segregation	biolink:OntologyClass	mondo			meiosis II, chromosome segregation	http://purl.obolibrary.org/obo/GO_0045144	The cell cycle process in which sister chromatids are organized and then physically separated and randomly apportioned to two sets during the second division of the meiotic cell cycle.	
GO:0060760	positive regulation of response to cytokine stimulus	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060760	Any process that increases the rate, frequency, or extent of a response to cytokine stimulus.	
GO:0060761	negative regulation of response to cytokine stimulus	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060761	Any process that decreases the rate, frequency, or extent of a response to cytokine stimulus.	
GO:0060764	cell-cell signaling involved in mammary gland development	biolink:OntologyClass	mondo			cell-cell signalling involved in mammary gland development	http://purl.obolibrary.org/obo/GO_0060764	Any process that mediates the transfer of information from one cell to another and contributes to the progression of the mammary gland, from its initial state to the mature structure.	
SO:0000209	rRNA_primary_transcript	biolink:SequenceFeature	mondo			ribosomal RNA primary transcript|rRNA primary transcript	http://purl.obolibrary.org/obo/SO_0000209	A primary transcript encoding a ribosomal RNA.	
GO:0060765	regulation of androgen receptor signaling pathway	biolink:OntologyClass	mondo			regulation of androgen receptor signalling pathway	http://purl.obolibrary.org/obo/GO_0060765	Any process that modulates the rate, frequency, or extent of the androgen receptor signaling pathway.	
GO:0060766	negative regulation of androgen receptor signaling pathway	biolink:OntologyClass	mondo			negative regulation of androgen receptor signalling pathway	http://purl.obolibrary.org/obo/GO_0060766	Any process that decreases the rate, frequency, or extent of the androgen receptor signaling pathway.	
UBERON:0001246	interlobular bile duct	biolink:AnatomicalEntity	mondo			interlobular ductule	http://purl.obolibrary.org/obo/UBERON_0001246	The canals that carry bile in the liver between the intralobular ducts and the biliary ductules; interlobular bile ducts are part of the interlobular portal triad.	
UBERON:0001245	anus	biolink:AnatomicalEntity	mondo			proctodeum|anal orifice|anal opening|opening of terminal part of digestive tract	http://purl.obolibrary.org/obo/UBERON_0001245	Orifice at the opposite end of an animal's digestive tract from the mouth. Its function is to expel feces, unwanted semi-solid matter produced during digestion, which, depending on the type of animal, may be one or more of: matter which the animal cannot digest, such as bones; food material after all the nutrients have been extracted, for example cellulose or lignin; ingested matter which would be toxic if it remained in the digestive tract; and dead or excess gut bacteria and other endosymbionts.	
UBERON:0001248	hilum of spleen	biolink:AnatomicalEntity	mondo			hilum splenicum|hilum|hilum lienale|splenic hilum|spleen hilum|hilum splenicum	http://purl.obolibrary.org/obo/UBERON_0001248	The splenic hilum is a location on the surface of the spleen. It is the point of attachment for the gastrosplenic ligament, and the point of insertion for the splenic artery and splenic vein. [WP,unvetted].	
UBERON:0001247	falciform ligament	biolink:AnatomicalEntity	mondo			falciform ligament of liver|ligamentum falciforme (hepatis)|ligamentum falciforme hepatis	http://purl.obolibrary.org/obo/UBERON_0001247	A ligament that attaches the liver to the anterior body wall. It is a broad and thin antero-posterior peritoneal fold, falciform in shape, its base being directed downward and backward and its apex upward and backward. It is a remnant of the ventral mesentery of the fetus. It is situated in an antero-posterior plane but lies obliquely, so that one surface faces forward and is in contact with the peritoneum behind the right rectus and the diaphragm, while the other is directed backward and is in contact with the left lobe of the liver. It is attached by its left margin to the under surface of the diaphragm and the posterior surface of the sheath of the right Rectus as low down as the umbilicus; by its right margin it extends from the notch on the anterior margin of the liver, as far back as the posterior surface. It is composed of two layers of peritoneum closely united together. Its base or free edge contains between its layers the round ligament and the paraumbilical veins[WP].	
UBERON:0001242	intestinal mucosa	biolink:AnatomicalEntity	mondo			mucosa of bowel|tunica mucosa intestini|bowel mucous membrane|mucosa of organ of bowel|bowel mucosa|bowel organ mucosa|mucous membrane of intestine|intestine mucosa of organ|organ mucosa of intestine|mucosa of intestine|mucosa of organ of intestine|intestine mucous membrane|intestine mucosa|intestine organ mucosa|mucous membrane of bowel|bowel mucosa of organ|organ mucosa of bowel	http://purl.obolibrary.org/obo/UBERON_0001242	Mucosal layer that lines the intestine.	
UBERON:0001243	serosa of intestine	biolink:AnatomicalEntity	mondo			intestinal serosa|intestine anatomical wall serous membrane|visceral peritoneum of intestine|bowel anatomical wall serosa|anatomical wall of intestine serosa|intestine serosa|serous membrane of intestinal wall|wall of bowel serous membrane|bowel wall serosa|serosa of bowel anatomical wall|serous membrane of intestine anatomical wall|serous membrane of anatomical wall of bowel|serosa of wall of intestine|serous membrane of intestine wall|anatomical wall of intestine serous membrane|wall of bowel serosa|serosa of bowel wall|bowel wall serous membrane|serous membrane of wall of bowel|serosa of anatomical wall of intestine|bowel anatomical wall serous membrane|intestine anatomical wall serosa|serosa of intestinal wall|intestine wall serosa|anatomical wall of bowel serosa|wall of intestine serous membrane|serosa of intestine anatomical wall|intestinal wall serosa|intestinal wall serous membrane|serous membrane of bowel anatomical wall|serosa of wall of bowel|serous membrane of anatomical wall of intestine|serous membrane of bowel wall|intestine wall serous membrane|serous membrane of wall of intestine|serosa of anatomical wall of bowel|anatomical wall of bowel serous membrane|serosa of intestine wall|wall of intestine serosa	http://purl.obolibrary.org/obo/UBERON_0001243	A serous membrane that is part of a wall of intestine [Automatically generated definition].	
MONDO:0004438	sporadic breast cancer	biolink:Disease	mondo	DOID:8029|UMLS:C1336076|NCIT:C7566		sporadic breast cancer|sporadic breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0004438	A carcinoma that arises from the breast and is not caused by inherited genetic mutations.	NCIT:C7566|UMLS:C1336076|DOID:8029
MONDO:0004437	obsolete gastric signet ring cell adenocarcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004437		
MONDO:0004439	periocular meningioma	biolink:Disease	mondo	UMLS:C1335383|NCIT:C6777|DOID:8030			http://purl.obolibrary.org/obo/MONDO_0004439	A meningioma that affects the periocular region.	NCIT:C6777|DOID:8030|UMLS:C1335383
MONDO:0004434	obsolete glomangiomyoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004434		
UBERON_CORE:channels_into	channels_into	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/uberon/core#channels_into		
MONDO:0004433	papillary carcinoma of the penis	biolink:Disease	mondo	DOID:8013|UMLS:C1335322|NCIT:C6983		squamous carcinoma of the penis, papillary type|papillary squamous carcinoma of the penis|papillary squamous carcinoma of penis|papillary carcinoma of the penis|papillary penile squamous carcinoma|papillary carcinoma of penis|papillary penile carcinoma|penis papillary carcinoma|squamous carcinoma of penis, papillary type	http://purl.obolibrary.org/obo/MONDO_0004433	A squamous cell carcinoma that arises from the penis and is characterized by the presence of a papillary growth pattern.	NCIT:C6983|DOID:8013|UMLS:C1335322
MONDO:0004436	ovarian myxoid liposarcoma	biolink:Disease	mondo	NCIT:C5235|UMLS:C1335170|DOID:8023		myxoid liposarcoma of the ovary|ovary myxoid liposarcoma|ovarian myxoid liposarcoma|myxoid liposarcoma of ovary	http://purl.obolibrary.org/obo/MONDO_0004436	A liposarcoma that arises from the ovary and is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma.	NCIT:C5235|DOID:8023|UMLS:C1335170
SO:0000240	chromosome_variation	biolink:SequenceFeature	mondo			chromosome variation	http://purl.obolibrary.org/obo/SO_0000240	A deviation in chromosome structure or number.	
MONDO:0004435	liver fibrosarcoma	biolink:Disease	mondo	UMLS:C1333966|DOID:8022|NCIT:C5832		hepatic fibrosarcoma|fibrosarcoma of the liver|fibrosarcoma of liver|liver fibrosarcoma (disease)|liver fibrosarcoma	http://purl.obolibrary.org/obo/MONDO_0004435	A usually aggressive malignant neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.	DOID:8022|NCIT:C5832|UMLS:C1333966
MONDO:0004430	penis mixed squamous cell carcinoma	biolink:Disease	mondo	NCIT:C39959|UMLS:C1513369|DOID:8009		mixed squamous cell carcinoma of the penis	http://purl.obolibrary.org/obo/MONDO_0004430	A squamous cell carcinoma that arises from the penis and is characterized by a mixture of morphologic patterns (e.g., high grade squamous cell carcinoma and verrucous carcinoma or warty-basaloid carcinoma).	DOID:8009|NCIT:C39959|UMLS:C1513369
MONDO:0004432	mature pericardial teratoma	biolink:Disease	mondo	UMLS:C1334638|DOID:8012|NCIT:C6744		benign pericardial teratoma|mature pericardial teratoma|mature teratoma of pericardium|pericardium mature teratoma|mature teratoma of the pericardium	http://purl.obolibrary.org/obo/MONDO_0004432	A benign teratoma that arises from the pericardium.	NCIT:C6744|DOID:8012|UMLS:C1334638
MONDO:0004431	hemarthrosis	biolink:Disease	mondo	ICD9:719.18|COHD:76784|ICD9:719.10|SCTID:81808003|ICD9:719.1|UMLS:C0158159|EFO:1001344|DOID:801|MESH:D006395|ICD10:M25.0		hemarthrosis of shoulder region|hemarthrosis of upper arm|hemarthrosis involving ankle and foot|hemarthrosis involving forearm|haemarthrosis of the pelvic region and thigh|hemarthrosis involving upper arm|hemarthrosis of the pelvic region and thigh|hemarthrosis of shoulder|hemarthrosis involving lower leg|hemarthrosis of hand|hemarthrosis of the ankle and foot|haemarthrosis of the ankle and foot|hemarthrosis of the hand|hemarthrosis of the ankle and/or foot|hemarthrosis of ankle and/or foot|hemarthrosis involving shoulder region|hemarthrosis of the forearm|haemarthrosis of shoulder joint|hemarthrosis involving pelvic region and thigh|hemarthrosis of the lower leg|hemarthrosis of forearm|hemarthrosis of lower leg|hemarthrosis of the upper arm|hemarthrosis involving hand|hemarthrosis of the shoulder region	http://purl.obolibrary.org/obo/MONDO_0004431	Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia.	MESH:D006395|SNOMEDCT:81808003|UMLS:C0158159|DOID:801
MONDO:0016427	obsolete coccidioidomycosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016427		
MONDO:0016428	multiple sclerosis variant	biolink:Disease	mondo	Orphanet:228145	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016428		ORPHA:228145
MONDO:0016429	Marburg acute multiple sclerosis	biolink:Disease	mondo	Orphanet:228157|SCTID:766246000	ordo_disease	acute multiple sclerosis, Marburg type|acute multiple sclerosis, Marburg variant	http://purl.obolibrary.org/obo/MONDO_0016429	Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients.	SNOMEDCT:766246000|ORPHA:228157
MONDO:0016423	autoimmune polyendocrinopathy type 4	biolink:Disease	mondo	SCTID:449730005|ICD9:258.1|UMLS:C3266026|Orphanet:227990|UMLS:CN201378|ICD10:E31.0	ordo_disease	APS4|autoimmune polyendocrine syndrome type 4|autoimmune polyglandular syndrome type 4|APS type 4	http://purl.obolibrary.org/obo/MONDO_0016423		SNOMEDCT:449730005|UMLS:CN201378|ORPHA:227990|UMLS:C3266026
MONDO:0016424	progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome	biolink:Disease	mondo	UMLS:CN201381|Orphanet:228012	ordo_disease	progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome|progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome|progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome	http://purl.obolibrary.org/obo/MONDO_0016424	Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy.	ORPHA:228012|UMLS:CN201381
MONDO:0016425	Hughes-Stovin syndrome	biolink:Disease	mondo	Orphanet:228116|UMLS:CN201382|ICD10:I28.8|SCTID:721226005	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016425	Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of BehC'et's disease (BD). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis.	ORPHA:228116|UMLS:CN201382|SNOMEDCT:721226005
MONDO:0016426	fusariosis	biolink:Disease	mondo	Orphanet:228119|DOID:0050289|MESH:D060585|SCTID:64250002|MedDRA:10051919|ICD10:B48.7|EFO:1001795	ordo_disease	Fusarium infection|Fusarium infectious disease|Fusarium caused disease or disorder|Fusarium disease or disorder	http://purl.obolibrary.org/obo/MONDO_0016426	Fusariosis describes a superficial, locally invasive, disseminated infection with the pathogenic fungus species, Fusarium, often found in soil and water, which is mainly transmitted to humans through traumatic inoculation and that manifests with keratitis, onychomycosis and less frequently peritonitis and cellulitis. In the immunocompromised, disseminated fusariosis is more common and it manifests with refractory fever, skin lesions (ecthyma-like, target, and multiple subcutaneous nodules), severe myalgias and sino-pulmonary infections.	MEDDRA:10051919|SNOMEDCT:64250002|UMLS:C0276758|ORPHA:228119|MESH:D060585|DOID:0050289
MONDO:0016420	familial flecked retinopathy	biolink:Disease	mondo	Orphanet:227786|ICD10:H35.5|UMLS:CN226924	ordo_group_of_disorders	hereditary flecked retinopathy	http://purl.obolibrary.org/obo/MONDO_0016420		ORPHA:227786|UMLS:CN226924
MONDO:0016421	toxic oil syndrome	biolink:Disease	mondo	Orphanet:227972|MedDRA:10051222|SCTID:239910001	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016421	Toxic oil syndrome is a rare intoxication, due to consumption of a rapeseed oil denatured with aniline 2%, characterized by generalized vascular lesions affecting all organs and vessels (including veins and arteries) and presenting with severe incapacitating myalgias, marked peripheral eosinophilia and pulmonary infiltrates.	UMLS:C0409998|ORPHA:227972|MEDDRA:10051222|SNOMEDCT:239910001
NCBITaxon:59848	Chrysopsini	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_59848		
MONDO:0016422	autoimmune polyendocrinopathy type 3	biolink:Disease	mondo	SCTID:449731009|ICD10:E31.0|Orphanet:227982|ICD9:258.1|UMLS:C3266027|UMLS:C1535942|GARD:0010980	ordo_disease	APS type 3|PAS3|polyglandular autoimmune syndrome type 3|APS3|autoimmune polyendocrine syndrome type 3|autoimmune polyglandular syndrome type 3	http://purl.obolibrary.org/obo/MONDO_0016422	Autoimmune polyendocrinopathy type 3 is a rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease.	SNOMEDCT:449731009|UMLS:C1535942|ORPHA:227982|UMLS:C3266027
MONDO:0004449	intraductal breast myoepitheliosis	biolink:Disease	mondo	DOID:8068|NCIT:C40387|UMLS:C1512935			http://purl.obolibrary.org/obo/MONDO_0004449	A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within small breast ducts.	UMLS:C1512935|DOID:8068|NCIT:C40387
MONDO:0004448	frontal sinus inverted papilloma	biolink:Disease	mondo	UMLS:C1333644|NCIT:C6842|DOID:8060		inverted papilloma of frontal sinus|inverted papilloma of the frontal sinus|frontal sinus inverted papilloma	http://purl.obolibrary.org/obo/MONDO_0004448	A benign neoplasm that arises from the ciliated respiratory mucosa that lines the frontal sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma.	NCIT:C6842|DOID:8060|UMLS:C1333644
SO:0000233	mature_transcript	biolink:SequenceFeature	mondo			mature transcript	http://purl.obolibrary.org/obo/SO_0000233	A transcript which has undergone the necessary modifications, if any, for its function. In eukaryotes this includes, for example, processing of introns, cleavage, base modification, and modifications to the 5' and/or the 3' ends, other than addition of bases. In bacteria functional mRNAs are usually not modified.	
MONDO:0004445	bladder papillary clear cell adenocarcinoma	biolink:Disease	mondo	NCIT:C39848|DOID:8051|UMLS:C1511196		bladder papillary clear cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004445	A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a papillary pattern.	NCIT:C39848|DOID:8051|UMLS:C1511196
MONDO:0004444	bladder tubulo-cystic clear cell adenocarcinoma	biolink:Disease	mondo	NCIT:C39847|UMLS:C1511203|DOID:8050		bladder tubulo-cystic clear cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004444	A rare morphologic variant of bladder carcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a tubulo-cystic pattern.	DOID:8050|NCIT:C39847|UMLS:C1511203
MONDO:0004447	pituitary stalk meningioma	biolink:Disease	mondo	DOID:8058|UMLS:C1335422|NCIT:C5311		meningioma of pituitary stalk|pituitary stalk meningioma (disease)|meningioma of the pituitary stalk|meningioma (disease) of pituitary stalk	http://purl.obolibrary.org/obo/MONDO_0004447	A meningioma that affects the pituitary stalk.	NCIT:C5311|DOID:8058|UMLS:C1335422
UBERON:0013280	diaphysis of tibia	biolink:AnatomicalEntity	mondo			body of tibia|corpus tibiae|body of the tibia|shaft of tibia|tibial diaphysis|shaft of tibia	http://purl.obolibrary.org/obo/UBERON_0013280	A diaphysis that is part of a tibia.	
MONDO:0004446	olfactory groove meningioma	biolink:Disease	mondo	NCIT:C6771|UMLS:C1335107|DOID:8057		meningioma of olfactory groove|olfactory sulcus meningioma (disease)|meningioma of the olfactory groove|meningioma (disease) of olfactory sulcus	http://purl.obolibrary.org/obo/MONDO_0004446	A meningioma that affects the olfactory sulcus.	NCIT:C6771|DOID:8057|UMLS:C1335107
MONDO:0004441	childhood ovarian embryonal carcinoma	biolink:Disease	mondo	UMLS:C1332989|DOID:8036|NCIT:C6546		pediatric embryonal carcinoma of the ovary|pediatric ovarian embryonal carcinoma|ovarian embryonal carcinoma of childhood|pediatric ovarian embryonal carcinoma|childhood embryonal carcinoma of the ovary|pediatric embryonal carcinoma of ovary|childhood embryonal carcinoma of ovary	http://purl.obolibrary.org/obo/MONDO_0004441	An embryonal carcinoma that arises from the ovary and occurs in children.	NCIT:C6546|DOID:8036|UMLS:C1332989
MONDO:0004440	pineal region meningioma	biolink:Disease	mondo	UMLS:C1335418|DOID:8031|NCIT:C6756		meningioma of pineal area|pineal body meningioma (disease)|pineal meningioma|meningioma of pineal gland|meningioma (disease) of pineal body|meningioma of the pineal gland|meningioma of the pineal region|meningioma of pineal region|pineal gland meningioma|meningioma of the pineal area|pineal area meningioma	http://purl.obolibrary.org/obo/MONDO_0004440	A meningioma that affects the pineal gland.	NCIT:C6756|DOID:8031|UMLS:C1335418
GO:1901653	cellular response to peptide	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1901653	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus.	
MONDO:0004443	chest wall parachordoma	biolink:Disease	mondo	DOID:8043|UMLS:C1332934|NCIT:C6720		parachordoma of the chest wall|parachordoma of chest wall|chest wall parachordoma	http://purl.obolibrary.org/obo/MONDO_0004443	A parachordoma arising from the chest wall.	NCIT:C6720|DOID:8043|UMLS:C1332934
MONDO:0004442	testis polyembryoma	biolink:Disease	mondo	UMLS:C1514200|DOID:8042|NCIT:C40962		polyembryoma of testis|polyembryoma of the testis|testicular polyembryoma	http://purl.obolibrary.org/obo/MONDO_0004442	A rare malignant germ cell tumor that arises from the testis and is characterized by the presence of embryoid bodies.	DOID:8042|UMLS:C1514200|NCIT:C40962
MONDO:0016409	primary congenital hypothyroidism	biolink:Disease	mondo	ICD10:E03.1|ICD10:E03.0|Orphanet:226295	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016409	Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth.	ORPHA:226295
GO:0045168	cell-cell signaling involved in cell fate commitment	biolink:OntologyClass	mondo			cell-cell signaling resulting in cell fate commitment|cell-cell signalling involved in cell fate specification|cell-cell signaling during in cell fate commitment|cell fate commitment, cell-cell signalling|cell-cell signalling resulting in cell fate commitment|cell-cell signalling during cell fate commitment|cell fate commitment, cell-cell signaling	http://purl.obolibrary.org/obo/GO_0045168	Signaling at long or short range between cells that results in the commitment of a cell to a certain fate.	
GO:1901652	response to peptide	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1901652	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus.	
GO:0045165	cell fate commitment	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0045165	The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field.	
MONDO:0016416	diphallia	biolink:Disease	mondo	Orphanet:227|GARD:0001872|SCTID:253851000|ICD9:752.69|ICD10:Q55.6	ordo_morphological_anomaly|gard_rare	Diphallus	http://purl.obolibrary.org/obo/MONDO_0016416		ORPHA:227|SNOMEDCT:253851000
MONDO:0016417	congenital ichthyosis-microcephalus-tetraplegia syndrome	biolink:Disease	mondo	Orphanet:2271|ICD10:Q87.8	ordo_disease	congenital ichthyosis-microcephalus-quadriplegia syndrome	http://purl.obolibrary.org/obo/MONDO_0016417		ORPHA:2271
MONDO:0016418	multiple system atrophy, cerebellar type	biolink:Disease	mondo	ICD10:G90.3|Orphanet:227510|UMLS:CN201371	ordo_clinical_subtype	sporadic olivopontocerebellar atrophy type 1|sporadic OPCA type 1|MSA, cerebellar type|MSA-c	http://purl.obolibrary.org/obo/MONDO_0016418	Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria).	ORPHA:227510|UMLS:CN201371
GO:0060784	regulation of cell proliferation involved in tissue homeostasis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060784	Any process that modulates the frequency, rate or extent of cell proliferation resulting in the maintenance of a steady-state number of cells within a tissue.	
NCBITaxon:226665	Rickettsia heilongjiangensis	organism taxon	mondo	PMID:10970415|PMID:14662925|GC_ID:11		Rickettsia heilongjiangii	http://purl.obolibrary.org/obo/NCBITaxon_226665		
MONDO:0016419	hereditary breast carcinoma	biolink:Disease	mondo	SCTID:254843006|Orphanet:227535|ICD10:C50.8|ICD10:C50.6|ICD10:C50.5|OMIM:114480|ICD10:C50.4|ICD10:C50.3|NCIT:C4503|ICD10:C50.2|ICD10:C50.1|UMLS:C0346153|ICD10:C50.0|MESH:C562840	ordo_disease|clingen	familial breast carcinoma|familial breast cancer|hereditary breast cancer|familial cancer of breast|familial cancer of the breast|breast cancer, familial Male|hereditary breast carcinoma|breast cancer, familial	http://purl.obolibrary.org/obo/MONDO_0016419	Breast carcinoma that has developed in relatives of patients with history of breast carcinoma.	SNOMEDCT:254843006|MESH:C562840|NCIT:C4503|UMLS:C0346153|http://identifiers.org/omim/114480|ORPHA:227535
GO:0060785	regulation of apoptosis involved in tissue homeostasis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060785	Any process that modulates the occurrence or rate of cell death by apoptosis that results in the maintenance of the steady-state number of cells within a tissue.	
MONDO:0016412	peripheral hypothyroidism	biolink:Disease	mondo	Orphanet:226310	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016412	Peripheral hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism.	ORPHA:226310
GO:0060786	regulation of cell differentiation involved in tissue homeostasis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060786	Any process that modulates the frequency, rate or extent of cell differentiation that contributes to the maintenance of a steady state of a cell type within a tissue.	
MONDO:0016413	congenital hypothyroidism due to maternal intake of antithyroid drugs	biolink:Disease	mondo	Orphanet:226313|ICD10:P72.2	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016413		ORPHA:226313
MONDO:0016414	hypotrichosis-intellectual disability, Lopes type	biolink:Disease	mondo	Orphanet:2266|UMLS:CN201347	ordo_disease	Lopes-Marques de Faria syndrome	http://purl.obolibrary.org/obo/MONDO_0016414	Hypotrichosis-intellectual disability, Lopes type is characterised by hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth. It has been described in two patients. The mode of transmission appears to be autosomal recessive.	ORPHA:2266|UMLS:CN201347
MONDO:0016415	obsolete immunodeficiency-centromeric instability-facial anomalies syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016415		
MONDO:0016410	central congenital hypothyroidism	biolink:Disease	mondo	Orphanet:226298|GARD:0012280|ICD10:E03.1|NCIT:C113144	gard_rare|ordo_group_of_disorders	thyrotropin deficiency|central hypothyroidism|TSH deficiency|hypothalamic-pituitary hypothyroidism|secondary hypothyroidism|thyroid stimulating hormone deficiency	http://purl.obolibrary.org/obo/MONDO_0016410	Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system.	NCIT:C113144|ORPHA:226298
MONDO:0016411	hypothyroidism due to deficient transcription factors involved in pituitary development or function	biolink:Disease	mondo	ICD10:E03.1|UMLS:CN201345|Orphanet:226307	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016411	Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary.	UMLS:CN201345|ORPHA:226307
UBERON:4200230	surface of bone	biolink:AnatomicalEntity	mondo			bone surface	http://purl.obolibrary.org/obo/UBERON_4200230	An anatomical surface that is part of a bone	
MONDO:0004416	plasmacytoid variant infiltrating bladder urothelial carcinoma	biolink:Disease	mondo	DOID:7968|ONCOTREE:SRCBC|NCIT:C39823|UMLS:C1512742		plasmacytoid/signet ring cell bladder carcinoma|infiltrating bladder urothelial carcinoma, plasmacytoid variant	http://purl.obolibrary.org/obo/MONDO_0004416		DOID:7968|UMLS:C1512742|NCIT:C39823
GO:0070130	negative regulation of mitochondrial translation	biolink:OntologyClass	mondo			negative regulation of mitochondrial protein biosynthesis|negative regulation of mitochondrial protein anabolism|negative regulation of mitochondrial protein synthesis|negative regulation of mitochondrial protein formation	http://purl.obolibrary.org/obo/GO_0070130	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA in a mitochondrion.	
GO:0070131	positive regulation of mitochondrial translation	biolink:OntologyClass	mondo			positive regulation of mitochondrial protein anabolism|positive regulation of mitochondrial protein synthesis|positive regulation of mitochondrial protein biosynthesis|positive regulation of mitochondrial protein formation	http://purl.obolibrary.org/obo/GO_0070131	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA in a mitochondrion.	
MONDO:0004415	lipid-cell variant infiltrating bladder urothelial carcinoma	biolink:Disease	mondo	DOID:7967|NCIT:C39828|UMLS:C1512738		infiltrating bladder urothelial carcinoma, Lipid-cell variant	http://purl.obolibrary.org/obo/MONDO_0004415		UMLS:C1512738|NCIT:C39828|DOID:7967
MONDO:0004418	microcystic variant infiltrating bladder urothelial carcinoma	biolink:Disease	mondo	UMLS:C1512740|NCIT:C39820|DOID:7971		infiltrating bladder urothelial carcinoma, microcystic variant	http://purl.obolibrary.org/obo/MONDO_0004418		DOID:7971|UMLS:C1512740|NCIT:C39820
MONDO:0004417	nested variant infiltrating bladder urothelial carcinoma	biolink:Disease	mondo	DOID:7969|UMLS:C1512741|NCIT:C39819		infiltrating bladder urothelial carcinoma, nested variant	http://purl.obolibrary.org/obo/MONDO_0004417		DOID:7969|UMLS:C1512741|NCIT:C39819
MONDO:0004412	malignant spiradenoma	biolink:Disease	mondo	GARD:0010466|ICDO:8403/3|DOID:7960|UMLS:C1266063|NCIT:C5117|SCTID:403942003		Spiradenocarcinoma|malignant eccrine spiradenoma (morphologic abnormality)|malignant spiradenoma|spiradenoma, malignant|malignant eccrine spiradenoma	http://purl.obolibrary.org/obo/MONDO_0004412	A very rare, aggressive carcinoma of the sweat glands arising from malignant transformation of a long standing spiradenoma. It usually grows in the upper extremities, lower extremities, trunk, and head and neck. It has the tendency to recur and metastasize most often to the lymph nodes, bones, and lungs.	NCIT:C5117|SNOMEDCT:403942003|DOID:7960|UMLS:C1266063
MONDO:0004411	duodenal gastrin-producing neuroendocrine tumor	biolink:Disease	mondo	NCIT:C5731|UMLS:C1333321|DOID:7959|EFO:1000224		gastrin producing tumor of duodenum|gastrin producing tumor of the duodenum|gastrinoma of the duodenum|duodenal gastrin-producing NET|duodenal gastrinoma|gastrin-producing neuroendocrine tumor of duodenum|gastrinoma of duodenum|duodenal gastrin-producing neuroendocrine tumor|malignant duodenal gastrinoma|duodenal G-cell gastrin producing tumor|duodenum gastrin-producing neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0004411	A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm.	NCIT:C5731|UMLS:C1333321|DOID:7959
MONDO:0004414	tamoxifen-related endometrial lesion	biolink:Disease	mondo	UMLS:C1515212|DOID:7962|NCIT:C40159		tamoxifen-related endometrial disorder	http://purl.obolibrary.org/obo/MONDO_0004414	A spectrum of endometrial abnormalities that occur in women who use tamoxifen to treat or prevent the development of breast cancer. These abnormalities include endometrial polyps, endometrial hyperplasia, and endometrial carcinoma.	NCIT:C40159|UMLS:C1515212|DOID:7962
MONDO:0004413	cervical non-keratinizing squamous cell carcinoma	biolink:Disease	mondo	DOID:7961|NCIT:C40188|UMLS:C1518366			http://purl.obolibrary.org/obo/MONDO_0004413	A variant of cervical squamous cell carcinoma characterized by the presence of polygonal squamous cells. Intercellular bridges and cytoplasmic keratinization may be present, but keratin pearls are absent.	UMLS:C1518366|NCIT:C40188|DOID:7961
UBERON:0013279	diaphysis of fibula	biolink:AnatomicalEntity	mondo			shaft of fibula|body of fibula|fibula diaphysis|corpus fibulae	http://purl.obolibrary.org/obo/UBERON_0013279	A diaphysis that is part of a fibula[Automatically generated definition].	
MONDO:0004410	sarcomatoid penile squamous cell carcinoma	biolink:Disease	mondo	UMLS:C1335923|NCIT:C6984|DOID:7958		sarcomatoid penile squamous cell carcinoma|spindle cell carcinoma of the penis|sarcomatoid carcinoma of the penis|sarcomatous carcinoma of the penis|sarcomatoid penile carcinoma|squamous cell carcinoma of the penis, sarcomatoid type|squamous cell carcinoma of penis, sarcomatoid type	http://purl.obolibrary.org/obo/MONDO_0004410	A squamous cell carcinoma that arises from the penis and is characterized by the presence of malignant spindle-shaped cells.	NCIT:C6984|UMLS:C1335923|DOID:7958
GO:1901663	quinone biosynthetic process	biolink:OntologyClass	mondo			quinone biosynthesis|quinone formation|quinone cofactor synthesis|quinone cofactor formation|quinone cofactor biosynthesis|quinone cofactor biosynthetic process|quinone anabolism|quinone synthesis|quinone cofactor anabolism	http://purl.obolibrary.org/obo/GO_1901663	The chemical reactions and pathways resulting in the formation of quinone.	
NCBITaxon:45258	Rickettsia conorii subsp. israelensis	organism taxon	mondo	GC_ID:11|PMID:15766388		Israeli tick typhus rickettsia	http://purl.obolibrary.org/obo/NCBITaxon_45258		
GO:1901661	quinone metabolic process	biolink:OntologyClass	mondo			quinone cofactor metabolic process|quinone metabolism|quinone cofactor metabolism	http://purl.obolibrary.org/obo/GO_1901661	The chemical reactions and pathways involving quinone.	
UBERON:0001293	outer medulla of kidney	biolink:AnatomicalEntity	mondo			kidney outer medulla|renal outer medulla|outer renal medulla|set of outer region of renal pyramids|zona externa (medullaris renalis)|outer zone of renal medulla|zona externa medullae renalis|outer zone of medulla of kidney	http://purl.obolibrary.org/obo/UBERON_0001293	The renal outer medulla is the region of the kidney that lies between the renal cortex and the renal inner medulla[GO].	
MONDO:0016405	sterol metabolism disorder with epilepsy	biolink:Disease	mondo	Orphanet:225710|UMLS:CN226918	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016405		UMLS:CN226918|ORPHA:225710
MONDO:0016406	other metabolic disease with epilepsy	biolink:Disease	mondo	Orphanet:225713|UMLS:CN201333	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0016406		ORPHA:225713|UMLS:CN201333
UBERON:0001292	distal convoluted tubule	biolink:AnatomicalEntity	mondo			distal convoluted renal tubule|tubulus contortus distalis|tubulus contortus distalis|tubulus convolutus distalis|second convoluted tubule	http://purl.obolibrary.org/obo/UBERON_0001292	The first segment of the nephron lying just downstream from the loop of Henle, immediately after the macula densa.	
UBERON:0001295	endometrium	biolink:AnatomicalEntity	mondo			uterine endometrium|uterine mucosa|tunica mucosa uteri|tunica mucosa (endometrium)|uterine mucous membrane	http://purl.obolibrary.org/obo/UBERON_0001295	the glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy	
MONDO:0016407	oligomeganephronia	biolink:Disease	mondo	GARD:4066|ICD10:Q60.4|Orphanet:2260|GARD:0004066|SCTID:18417009|UMLS:C0431694|NCIT:C123202|DOID:0111142	ordo_morphological_anomaly	Oligomeganephronic renal hypoplasia	http://purl.obolibrary.org/obo/MONDO_0016407	Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia, characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules.	SNOMEDCT:18417009|DOID:0111142|UMLS:C0431694|NCIT:C123202|ORPHA:2260
MONDO:0016408	permanent congenital hypothyroidism	biolink:Disease	mondo	ICD10:E03.0|Orphanet:226292|ICD10:E03.1	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016408	Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH), a thyroid hormone deficiency present from birth.	ORPHA:226292
UBERON:0001294	inner medulla of kidney	biolink:AnatomicalEntity	mondo			zona interna (medullaris renalis)|zona interna medullae renalis|kidney inner medulla|renal inner medulla|inner renal medulla|set of inner region of renal pyramids|inner zone of renal medulla|inner zone of medulla of kidney	http://purl.obolibrary.org/obo/UBERON_0001294	Innermost region of the mammalian kidney.	
MONDO:0016401	energy metabolism disorder with epilepsy	biolink:Disease	mondo	Orphanet:225696|UMLS:CN226915	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016401		UMLS:CN226915|ORPHA:225696
MONDO:0016402	mitochondrial disease with epilepsy	biolink:Disease	mondo	Orphanet:225700|UMLS:CN201331	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016402		ORPHA:225700|UMLS:CN201331
MONDO:0016403	mitochondrial disease with peripheral neuropathy	biolink:Disease	mondo	UMLS:CN201332|Orphanet:225703	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016403		ORPHA:225703|UMLS:CN201332
UBERON:0001290	proximal straight tubule	biolink:AnatomicalEntity	mondo			pars recta|tubulus rectus proximalis|proximal tubule segment 3|thick descending limb of proximal tubule|S3|segment 3 of proximal tubule|pars recta tubuli renalis	http://purl.obolibrary.org/obo/UBERON_0001290	The proximal straight tubule is the part of the descending limb that extends from the proximal convoluted tubule to the descending thin tubule.	
MONDO:0016404	obsolete metabolic neurotransmission anomaly with epilepsy	biolink:Disease	mondo	Orphanet:225707	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016404		ORPHA:225707
MONDO:0016400	metal transport or utilization disorder with epilepsy	biolink:Disease	mondo	Orphanet:225692|UMLS:CN226914	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016400		UMLS:CN226914|ORPHA:225692
UBERON:0001297	serosa of uterus	biolink:AnatomicalEntity	mondo			visceral peritoneum of uterus|serous membrane of uterus|uterine serosa|serous coat of uterus|tunica serosa (perimetrium)|uterus serosa|tunica serosa uteri|uterus serous membrane|perimetrium	http://purl.obolibrary.org/obo/UBERON_0001297	Outer serosa layer of the uterus.	
MONDO:0004409	nipple duct carcinoma	biolink:Disease	mondo	UMLS:C1334967|NCIT:C27234|DOID:7953		nipple duct carcinoma	http://purl.obolibrary.org/obo/MONDO_0004409	A carcinoma that develops in the ducts of the nipple.	DOID:7953|UMLS:C1334967|NCIT:C27234
GO:0070134	positive regulation of mitochondrial translational initiation	biolink:OntologyClass	mondo			positive regulation of mitochondrial translation initiation	http://purl.obolibrary.org/obo/GO_0070134	Any process that activates or increases the frequency, rate or extent of the process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion.	
NCBITaxon:33278	Ancylostomatidae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_33278		
MONDO:0004408	schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma	biolink:Disease	mondo	UMLS:C1516760|DOID:7951|NCIT:C42059		composite ganglioneuroblastoma, Schwannian Stroma-rich and Stroma-poor	http://purl.obolibrary.org/obo/MONDO_0004408	A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which constitutes more than fifty-percent of the tumor volume.	UMLS:C1516760|DOID:7951|NCIT:C42059
UBERON:0001296	myometrium	biolink:AnatomicalEntity	mondo			tunica muscularis|tunica muscularis (myometrium)|uterine smooth muscle|uterine myometrium	http://purl.obolibrary.org/obo/UBERON_0001296	the smooth muscle coat of the uterus, which forms the main mass of the organ and surrounds and supports the endometrium	
GO:0070132	regulation of mitochondrial translational initiation	biolink:OntologyClass	mondo			regulation of mitochondrial translation initiation	http://purl.obolibrary.org/obo/GO_0070132	Any process that modulates the frequency, rate or extent of the process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion.	
UBERON:0001299	glans penis	biolink:AnatomicalEntity	mondo			glans|balanus|coronal sulcus	http://purl.obolibrary.org/obo/UBERON_0001299	the conic expansion of the corpus spongiosum that forms the head of the penis	
GO:0070133	negative regulation of mitochondrial translational initiation	biolink:OntologyClass	mondo			negative regulation of mitochondrial translation initiation	http://purl.obolibrary.org/obo/GO_0070133	Any process that stops, prevents, or reduces the frequency, rate or extent of the process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion.	
MONDO:0004427	supraglottis neoplasm	biolink:Disease	mondo	UMLS:C0345726|DOID:8002|NCIT:C6793|SCTID:126697005		supraglottic neoplasm|supraglottis neoplasm|tumor of supraglottis|neoplasm of supraglottic part of larynx|tumor of the supraglottis|supraglottic part of larynx tumor|supraglottic part of larynx neoplasm|supraglottic tumor|neoplasm of supraglottis|tumor of supraglottic part of larynx|supraglottic part of larynx neoplasm (disease)|supraglottis tumor|neoplasm of the supraglottis	http://purl.obolibrary.org/obo/MONDO_0004427	A benign or malignant neoplasm that affects the supraglottic area of the larynx.	NCIT:C6793|SNOMEDCT:126697005|DOID:8002|UMLS:C0345726
NCBITaxon:33264	Dictyocaulidae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_33264		
MONDO:0004426	frontal convexity meningioma	biolink:Disease	mondo	UMLS:C1333643|DOID:8000|NCIT:C5292			http://purl.obolibrary.org/obo/MONDO_0004426	A meningioma that affects the frontal sulcus.	NCIT:C5292|DOID:8000|UMLS:C1333643
SO:0000252	rRNA	biolink:SequenceFeature	mondo			ribosomal ribonucleic acid|INSDC_feature:rRNA|INSDC_qualifier:unknown|ribosomal RNA	http://purl.obolibrary.org/obo/SO_0000252	RNA that comprises part of a ribosome, and that can provide both structural scaffolding and catalytic activity.	
MONDO:0004429	skin meningioma	biolink:Disease	mondo	DOID:8006|UMLS:C1335481		primary meningioma of the skin|zone of skin meningioma (disease)|meningioma (disease) of zone of skin	http://purl.obolibrary.org/obo/MONDO_0004429	A meningioma (disease) that involves the zone of skin.	DOID:8006|UMLS:C1335481
GO:0045184	establishment of protein localization	biolink:OntologyClass	mondo			protein recruitment|establishment of protein localisation|protein positioning	http://purl.obolibrary.org/obo/GO_0045184	The directed movement of a protein to a specific location.	
MONDO:0004428	alveoli adenoma	biolink:Disease	mondo	ICDO:8251/0|NCIT:C4140|UMLS:C0334303|DOID:8003		alveolar adenoma|adenoma of the alveoli|adenoma of alveoli|adenoma, bronchioloalveolar, benign|alveolar adenoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0004428	A benign, well circumscribed lung neoplasm morphologically characterized by the presence of cystic spaces resembling alveoli, lined by a simple cuboidal epithelium. The cystic spaces are surrounded by a spindle cell stroma which may show myxoid changes. It is a solitary, usually peripheral lung lesion. Patients are usually asymptomatic and its discovery is an incidental finding during chest X-ray examination. Surgical excision is curative.	NCIT:C4140|DOID:8003|UMLS:C0334303
MONDO:0004423	central nervous system extraskeletal osteosarcoma	biolink:Disease	mondo	NCIT:C7002|UMLS:C1335150|DOID:7994		central nervous system osteosarcoma|central nervous system osteosarcoma (disease)|osteosarcoma of central nervous system|osteosarcoma of the central nervous system|central nervous system extraskeletal osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0004423	An osteosarcoma arising from the brain or spinal cord.	NCIT:C7002|UMLS:C1335150|DOID:7994
MONDO:0004422	cerebral falx meningioma	biolink:Disease	mondo	DOID:7986|UMLS:C1333597|NCIT:C5267		meningioma (disease) of falx cerebri|meningioma of falx of cerebrum|falx cerebri meningioma|meningioma of falx cerebri|meningioma of the falx of the cerebrum|meningioma of the falx cerebri|falx cerebri meningioma (disease)|meningioma of the cerebral falx|meningioma of cerebral falx|Falcine meningioma	http://purl.obolibrary.org/obo/MONDO_0004422	A meningioma that affects the falx cerebri.	NCIT:C5267|DOID:7986|UMLS:C1333597
GO:0045182	translation regulator activity	biolink:OntologyClass	mondo			translation factor activity	http://purl.obolibrary.org/obo/GO_0045182	Any molecular function involved in the initiation, activation, perpetuation, repression or termination of polypeptide synthesis at the ribosome.	
MONDO:0004425	hyperthyroidism	biolink:Disease	mondo	MESH:D006980|DOID:7998|ICD9:242.90|EFO:0009189|NCIT:C3123|ICD10:E05.9|SCTID:34486009		overactive thyroid	http://purl.obolibrary.org/obo/MONDO_0004425	Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor.	SNOMEDCT:34486009|MESH:D006980|NCIT:C3123|DOID:7998
MONDO:0004424	familial glomangioma	biolink:Disease	mondo	NCIT:C5350|DOID:7996|UMLS:C1333987		familial glomangioma|hereditary glomangioma	http://purl.obolibrary.org/obo/MONDO_0004424	A familial glomus tumor.	NCIT:C5350|DOID:7996|UMLS:C1333987
MONDO:0004421	sclerosing breast papilloma	biolink:Disease	mondo	NCIT:C27944|DOID:7984|UMLS:C1335932		sclerosing breast papilloma|Complex sclerosing papillary lesion of the breast|Complex sclerosing papillary lesion	http://purl.obolibrary.org/obo/MONDO_0004421	A breast papilloma characterized by the presence of predominant sclerosing architectural features.	NCIT:C27944|UMLS:C1335932|DOID:7984
MONDO:0004420	breast malignant eccrine spiradenoma	biolink:Disease	mondo	DOID:7983|UMLS:C1334565|NCIT:C5180		malignant eccrine spiradenoma of breast|malignant eccrine spiradenoma of the breast|malignant breast eccrine spiradenoma|malignant spiradenoma of breast|breast malignant spiradenoma	http://purl.obolibrary.org/obo/MONDO_0004420	A rare tumor characterized by malignant transformation of an eccrine spiradenoma of the breast.	NCIT:C5180|UMLS:C1334565|DOID:7983
GO:0045187	regulation of circadian sleep/wake cycle, sleep	biolink:OntologyClass	mondo			regulation of sleep	http://purl.obolibrary.org/obo/GO_0045187	Any process that modulates the frequency, rate or extent of sleep; a readily reversible state of reduced awareness and metabolic activity that occurs periodically in many animals.	
UBERON:0001282	intralobular bile duct	biolink:AnatomicalEntity	mondo			canal of Hering|canals of Hering|cholangiole|duct of Herring|intrahepatic bile ductule|ductus interlobularis bilifer|canal of Herring	http://purl.obolibrary.org/obo/UBERON_0001282	the tubules located between the bile canaliculi and interlobular bile ducts near the outer edge of a classic liver lobule	
UBERON:0001281	hepatic sinusoid	biolink:AnatomicalEntity	mondo			liver sinusoid|vas capillare sinusoideum|hepatic sinusoids|sinusoid of liver|liver hepatic sinusoids|liver sinusoidal blood vessel|vas sinusoideum|sinusoidal blood vessel of liver	http://purl.obolibrary.org/obo/UBERON_0001281	Wide thin-walled blood vessels in the liver. In mammals they have neither veinous or arterial markers.	
GO:0070129	regulation of mitochondrial translation	biolink:OntologyClass	mondo			regulation of mitochondrial protein anabolism|regulation of mitochondrial protein biosynthesis|regulation of mitochondrial protein synthesis|regulation of mitochondrial protein formation	http://purl.obolibrary.org/obo/GO_0070129	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA in a mitochondrion.	
UBERON:0001280	liver parenchyma	biolink:AnatomicalEntity	mondo			hepatic parenchyme|liver parenchyme|parenchyma of liver|hepatic parenchyma	http://purl.obolibrary.org/obo/UBERON_0001280	The functional units of the liver including the lobules.	
UBERON:0001289	descending limb of loop of Henle	biolink:AnatomicalEntity	mondo			descending limb of Henle's loop|descending limb|loop of Henle descending limb	http://purl.obolibrary.org/obo/UBERON_0001289	the portion of the renal tubule that constitutes the proximal part of the loop of Henle, has low permeability to ions and urea, and is highly permeable to water; it consists of an initial short thick segment lined by low simple cuboidal epithelium and a long thin segment lined by simple squamous epithelium; however, this distinction is not as important physiologically as in the ascending limb, so often the two are treated as one structure	
GO:0070125	mitochondrial translational elongation	biolink:OntologyClass	mondo			mitochondrial translation elongation	http://purl.obolibrary.org/obo/GO_0070125	The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis in a mitochondrion.	
GO:0070126	mitochondrial translational termination	biolink:OntologyClass	mondo			mitochondrial translation termination	http://purl.obolibrary.org/obo/GO_0070126	The process resulting in the release of a polypeptide chain from the ribosome in a mitochondrion, usually in response to a termination codon (note that mitochondria use variants of the universal genetic code that differ between different taxa).	
UBERON:0001285	nephron	biolink:AnatomicalEntity	mondo			mature nephron|nephroneum|tubulus renalis	http://purl.obolibrary.org/obo/UBERON_0001285	The basic functional unit of the kidney. its chief function is to regulate the concentration of water and soluble substances like sodium salts by filtering the blood, reabsorbing what is needed and excreting the rest as urine. A nephron eliminates wastes from the body, regulates blood volume and blood pressure, controls levels of electrolytes and metabolites, and regulates blood pH. Its functions are vital to life and are regulated by the endocrine system by hormones such as antidiuretic hormone, aldosterone, and parathyroid hormone.[WP]	
MONDO:0004419	lymphoma-like variant infiltrating bladder urothelial carcinoma	biolink:Disease	mondo	NCIT:C39822|DOID:7972|UMLS:C1512739		infiltrating bladder urothelial carcinoma, lymphoma-like variant	http://purl.obolibrary.org/obo/MONDO_0004419		DOID:7972|UMLS:C1512739|NCIT:C39822
GO:0070124	mitochondrial translational initiation	biolink:OntologyClass	mondo			mitochondrial translation initiation	http://purl.obolibrary.org/obo/GO_0070124	The process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion. This includes the formation of a complex of the ribosome, mRNA, and an initiation complex that contains the first aminoacyl-tRNA.	
UBERON:0001288	loop of Henle	biolink:AnatomicalEntity	mondo			Henle's loop|ansa nephroni|Henle loop	http://purl.obolibrary.org/obo/UBERON_0001288	the section of the renal tubule in the kidney medulla with a hairpin bend; consists of a descending limb and an ascending limb, and is situated between the proximal convoluted tubule to the distal convoluted tubule; it functions to reabsorb water and ions from the urine	
SO:0000248	sequence_length_alteration	biolink:SequenceFeature	mondo			sequence length alteration	http://purl.obolibrary.org/obo/SO_0000248	A kind of kind of sequence alteration where the copies of a region present varies across a population.	
NCBITaxon:33265	Dictyocaulinae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_33265		
UBERON:0001287	proximal convoluted tubule	biolink:AnatomicalEntity	mondo			renal proximal convoluted tubule|PCT|tubulus contortus proximalis|1st convoluted tubule|first convoluted tubule|tubulus convolutus proximalis|kidney proximal convoluted tubule|proximal convoluted renal tubule|tubulus contortus proximalis	http://purl.obolibrary.org/obo/UBERON_0001287	The proximal convoluted tubule is the most proximal portion of the proximal tubule and extends from the glomerular capsule to the proximal straight tubule.	
MONDO:0100160	alcoholic ketoacidosis	biolink:Disease	mondo			alcoholic ketosis|alcoholic acidosis	http://purl.obolibrary.org/obo/MONDO_0100160	An acute disease characterized by severe ketoacidosis in the absence of diabetes mellitus and occuring in individuals with a history of prolonged excessive alcohol consumption. Disease manifestations include nausea, intractable vomiting, and abdominal pain. When treated, AKA resolves rapidly and completely with no apparent sequelae.	
MONDO:0100161	hyperkalemic renal tubular acidosis	biolink:Disease	mondo			type 4 renal tubular acidosis|type 4 RTA|hyperkalemic RTA	http://purl.obolibrary.org/obo/MONDO_0100161	Renal tubular acidosis (RTA) that is caused by a generalized transport abnormality of the distal tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it results in high levels of potassium in the blood instead of low levels.	
MONDO:0100163	COVID-19–associated multisystem inflammatory syndrome in children	biolink:Disease	mondo	DOID:0080711|NCIT:C172127		pediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2|PIMS-TS|PMIS|multisystem inflammatory syndrome in children associated with COVID-19|MIS-C|multisystem inflammatory syndrome in children|COVID-19 associated multisystem inflammatory syndrome in children|pediatric multi-system inflammatory syndrome potentially associated with COVID-19|PIMS|COVID-19 Kawasaki-like syndrome|pediatric inflammatory multisystem syndrome|pediatric multisystem inflammatory syndrome|multisystem inflammatory syndrome in children associated with coronavirus disease 2019|COVID-19 -related pediatric inflammatory multisystem syndrome|paediatric inflammatory multisystem syndrome: temporally associated with SARS-CoV-2|SARS-CoV-2 Kawasaki-like syndrome	http://purl.obolibrary.org/obo/MONDO_0100163	A inflammatory syndrome in children infected by the SARS-CoV-2 with similarities to Kawasaki disease. Clinical manifestations range from fever and inflammation to myocardial injury, shock, and development of coronary artery aneurysms.	DOID:0080711|NCIT:C172127
MONDO:0100164	permanent neonatal diabetes mellitus	biolink:Disease	mondo	UMLS:C1833104|GARD:0010457|Orphanet:99885|ICD10:P70.2|OMIMPS:606176|SCTID:609565001|NCIT:C114902|DOID:0060639	gard_rare|ordo_disease	permanent diabetes mellitus of infancy|PDMI|diabetes mellitus, permanent neonatal, with neurologic features|PNDM|diabetes mellitus, permanent, of infancy|monogenic diabetes of infancy|developmental delay, epilepsy, and neonatal diabetes|diabetes mellitus, permanent neonatal; PNDM|diabetes mellitus, permanent neonatal	http://purl.obolibrary.org/obo/MONDO_0100164	Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.	SNOMEDCT:609565001|ORPHA:99885|NCIT:C114902|DOID:0060639|UMLS:C1833104
MONDO:0100165	permanent neonatal diabetes mellitus 1	biolink:Disease	mondo	OMIM:606176		PDMI|PNDM1|diabetes mellitus, permanent, of infancy	http://purl.obolibrary.org/obo/MONDO_0100165	A rare autosomal recessive disorder characterized by severe hyperglycemia which requires insulin treatment soon after birth. The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well.	http://identifiers.org/omim/606176
GO:0008324	cation transmembrane transporter activity	biolink:OntologyClass	mondo			transmembrane cation transporter activity	http://purl.obolibrary.org/obo/GO_0008324	Enables the transfer of cation from one side of a membrane to the other.	
GO:0035947	obsolete regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter	biolink:OntologyClass	mondo			regulation of glucose biosynthesis by regulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthetic process by regulation of transcription from RNA polymerase II promoter|regulation of gluconeogenesis by regulation of transcription from Pol II promoter|regulation of glucose biosynthetic process by regulation of transcription from Pol II promoter|regulation of glucose biosynthesis by regulation of transcription from Pol II promoter	http://purl.obolibrary.org/obo/GO_0035947	OBSOLETE. Any process that modulates the frequency, rate or extent of gluconeogenesis, by regulation of transcription from an RNA polymerase II promoter.	
GO:0035948	obsolete positive regulation of gluconeogenesis by positive regulation of transcription from RNA polymerase II promoter	biolink:OntologyClass	mondo			regulation of glucose biosynthesis by up-regulation of transcription from RNA polymerase II promoter|regulation of gluconeogenesis by positive regulation of transcription from Pol II promoter|regulation of glucose biosynthetic process by up-regulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthesis by up regulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthetic process by up regulation of transcription from RNA polymerase II promoter|regulation of gluconeogenesis by stimulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthesis by positive regulation of transcription from RNA polymerase II promoter|regulation of gluconeogenesis by upregulation of transcription from RNA polymerase II promoter|regulation of gluconeogenesis by activation of transcription from RNA polymerase II promoter|regulation of gluconeogenesis by up-regulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthesis by positive regulation of transcription from Pol II promoter|regulation of glucose biosynthetic process by positive regulation of transcription from Pol II promoter|regulation of glucose biosynthetic process by positive regulation of transcription from RNA polymerase II promoter|regulation of gluconeogenesis by up regulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthesis by upregulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthetic process by upregulation of transcription from RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_0035948	OBSOLETE. Any process that activates or increases the frequency, rate or extent of gluconeogenesis by activating or increasing the frequency, rate or extent of transcription from an RNA polymerase II promoter.	
GO:0035949	obsolete positive regulation of gluconeogenesis by negative regulation of transcription from RNA polymerase II promoter	biolink:OntologyClass	mondo			positive regulation of glucose biosynthesis by down-regulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthetic process by negative regulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthetic process by down-regulation of transcription from RNA polymerase II promoter|positive regulation of gluconeogenesis by negative regulation of transcription from Pol II promoter|positive regulation of glucose biosynthesis by down regulation of transcription from RNA polymerase II promoter|positive regulation of gluconeogenesis by inhibition of transcription from RNA polymerase II promoter|positive regulation of gluconeogenesis by downregulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthetic process by down regulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthesis by negative regulation of transcription from RNA polymerase II promoter|positive regulation of gluconeogenesis by down-regulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthetic process by downregulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthesis by downregulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthetic process by negative regulation of transcription from Pol II promoter|positive regulation of glucose biosynthesis by negative regulation of transcription from Pol II promoter|positive regulation of gluconeogenesis by down regulation of transcription from RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_0035949	OBSOLETE. Any process that activates or increases the frequency, rate or extent of gluconeogenesis by stopping, preventing, or reducing the frequency, rate or extent of transcription from an RNA polymerase II promoter.	
FOODON:03400685	022  tree nuts (tn) (ccpr)	biolink:OntologyClass	mondo	http://www.langual.org/langual_thesaurus.asp?termid=A0685			http://purl.obolibrary.org/obo/FOODON_03400685	Tree nuts are the seeds of a variety of trees and shrubs which are characterized by a hard inedible shell enclosing an oily seed. The seed is protected from pesticides applied during the growing season by the shell and other parts of the fruit. The edible portion of the nut is consumed in succulent, dried or processed forms.	
MONDO:0100172	intellectual disability, autosomal dominant	biolink:Disease	mondo	OMIMPS:156200		mental retardation, autosomal dominant|autosomal dominant intellectual disability	http://purl.obolibrary.org/obo/MONDO_0100172		
MONDO:0100175	TTN-related myopathy	biolink:Disease	mondo			TTN myopathy|congenital myopathy related to TTN	http://purl.obolibrary.org/obo/MONDO_0100175	A disorder of the musculoskeletal system caused by pathogenic variants in the TTN gene encoding the titin protein expressed in striated muscle. These variants are associated with a variety of overlapping congenital and adult-onset myopathies characterized by non-progressive or progressive neck, axial, and limb weakness, joint contractures, early-onset respiratory insufficiency, facial weakness, congenital cardiac anomalies and/or early-onset dilated cardiomyopathy. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include increased internalized and central nuclei, minicores, and dystrophic changes.	
MONDO:0100176	AP-4 deficiency syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100176	A genetic disorder associated with variation(s) in the AP4 genes: AP4B1, AP4E1, AP4M1, and AP4S1. The phenotypes observed in individuals with genetic variants in these genes are often complex and include intellectual disability, spastic paraplegia, microcephaly, brain abnormalities, and seizures.	
GO:0035933	glucocorticoid secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0035933	The regulated release of any glucocorticoid hormone into the circulatory system. Glucocorticoids are a class of steroid hormones that regulate a variety of physiological processes, in particular control of the concentration of glucose in blood.	
GO:0035935	androgen secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0035935	The regulated release of an androgen into the circulatory system. Androgens are steroid hormones that stimulate or control the development and maintenance of masculine characteristics in vertebrates.	
GO:0035936	testosterone secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0035936	The regulated release of testosterone into the circulatory system. Testosterone is an androgen having 17beta-hydroxy and 3-oxo groups, together with unsaturation at C-4-C-5.	
GO:0035930	corticosteroid hormone secretion	biolink:OntologyClass	mondo			corticosteroid secretion	http://purl.obolibrary.org/obo/GO_0035930	The regulated release of any corticosteroid hormone into the circulatory system.	
GO:0035931	mineralocorticoid secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0035931	The regulated release of any mineralocorticoid into the circulatory system. Mineralocorticoids are a class of steroid hormones that regulate water and electrolyte metabolism.	
GO:0035932	aldosterone secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0035932	The regulated release of aldosterone into the circulatory system. Aldosterone is a pregnane-based steroid hormone produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland, and acts on the distal tubules and collecting ducts of the kidney to cause the conservation of sodium, secretion of potassium, increased water retention, and increased blood pressure. The overall effect of aldosterone is to increase reabsorption of ions and water in the kidney.	
MONDO:0100184	GTP cyclohydrolase I deficiency	biolink:Disease	mondo			GTP-cyclohydrolase I deficiency	http://purl.obolibrary.org/obo/MONDO_0100184	A disease characterized by a deficiency in GTP cyclohydrolase I, which leads to a consequent reduction in BH4 and reduces the activity of three BH4-cofactor dependent enzymes - phenylalanine hydroxylase, tyrosine hydroxylase, and tryptophan hydroxylase. GTP cyclohydrolase I deficiency encompasses a spectrum of disease that includes autosomal dominant and autosomal recessive forms, with severity correlating with the residual enzyme activity. Individuals who are heterozygous for pathogenic variants in GCH1 have symptoms ranging from none (due to reduced penetrance) to dopa-responsive dystonia, which is the most common presentation in symptomatic cases, to rarer neurological presentations such as adult-onset "benign" parkinsonism, various types of focal dystonia, and symptoms simulating cerebral palsy or spastic paraplegia. Hyperphenylalaninemia is absent, and patients respond well to treatment with levodopa. Individuals who are homozygous or compound heterozygous for pathogenic variants in GCH1 typically present with hyperphenylalaninemia, often identified by newborn screening, and severe neurological features and due to very low or undetectable enzyme activity. Treatment with levodopa, BH4, and 5-hydroxytryptophan can improve the symptoms but does not prevent development of severe encephalopathy. Rare cases of GTP cyclohydrolase I deficiency with a phenotype that is intermediate in severity between dopa-responsive dystonia and the severe autosomal recessive form have also been described, supporting the existence a phenotypic spectrum of disease.	
MONDO:0100185	immune reconstitution inflammatory syndrome	biolink:Disease	mondo			immune reconstitution syndrome|IRD|immune reconstitution inflammatory syndrome associated with Kaposi sarcoma|IRS|immune restoration disease|IRIS	http://purl.obolibrary.org/obo/MONDO_0100185	An inflammatory condition that arises after initiating antiretroviral therapy (ART) therapy in HIV-infected patients that results from restored immunity to specific infectious or non-infectious antigens.	
MONDO:0100186	GTP cyclohydrolase I deficiency with hyperphenylalaninemia	biolink:Disease	mondo	GARD:0002844|UMLS:C0268467|Orphanet:2102|OMIM:233910|NCIT:C141442|ICD10:E70.1|SCTID:23447005	gard_rare|ordo_clinical_subtype	hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to GTP cyclohydrolase 1 deficiency|dystonia, Dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive|GTPCH deficiency|hyperphenylalaninemia due to GTP cyclohydrolase deficiency|HPABH4B|hyperphenylalaninemia, BH4-deficient, B|hyperphenylalaninemia, BH4-deficient, B; HPABH4B|hyperphenylalaninemia, Bh4-deficient, type B|GTP cyclohydrolase I deficiency|GTP cyclohydrolase 1 deficiency	http://purl.obolibrary.org/obo/MONDO_0100186		http://identifiers.org/omim/233910|NCIT:C141442|UMLS:C0268467|SNOMEDCT:23447005|ORPHA:2102
MONDO:0100188	combined ApoA-I and ApoC-III deficiency	biolink:Disease	mondo			ApoA-I and apoC-III deficiency, combined	http://purl.obolibrary.org/obo/MONDO_0100188	A hypoalphalipoproteinemia that is has its basis in the disruption of ApoA-I and ApoC-III.	
MONDO:0100189	apolipoprotein A-I deficiency	biolink:Disease	mondo	Orphanet:425		ApoA-I deficiency|familial apoA-I deficiency|familial hypoalphalipoproteinemia	http://purl.obolibrary.org/obo/MONDO_0100189	A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD).	ORPHA:425
GO:0008301	DNA binding, bending	biolink:OntologyClass	mondo			DNA bending involving DNA binding|DNA bending activity	http://purl.obolibrary.org/obo/GO_0008301	The activity of binding selectively and non-covalently to and distorting the original structure of DNA, typically a straight helix, into a bend, or increasing the bend if the original structure was intrinsically bent due to its sequence.	
GO:0035929	steroid hormone secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0035929	The regulated release of any steroid that acts as a hormone into the circulatory system.	
MONDO:0100192	liver failure	biolink:Disease	mondo	NCIT:C26922		hepatic failure	http://purl.obolibrary.org/obo/MONDO_0100192	A liver disease characterized by the liver losing or has lost all of its function.	NCIT:C26922
MONDO:0100193	chronic liver failure	biolink:Disease	mondo	NCIT:C84428		end-stage liver disease|end stage liver disease (decompensated liver disease)|end stage liver disease|ESLD	http://purl.obolibrary.org/obo/MONDO_0100193	Liver failure that develops slowly and gradually for some time, possibly for years, often as the result of cirrhosis, or malnutrition.	NCIT:C84428
MONDO:0100194	pregnancy associated osteoporosis	biolink:Disease	mondo			pregnancy and lactation-associated osteoporosis	http://purl.obolibrary.org/obo/MONDO_0100194	A severe early presentation of osteoporosis in which young women experience low trauma or spontaneous fractures, most commonly vertebral fractures, during late pregnancy or lactation.	
MONDO:0100195	X-linked intellectual disability with hypopituitarism	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100195	An X-linked intellectual disability in which the cause of the disease is a mutation in the SOX3 gene, with variable phenotypes including growth hormone deficiency due to hypopituitarism. It is undetermined if SOX3 is the only gene associated with this disease.	
MONDO:0100196	TPM2-related myopathy	biolink:Disease	mondo			autosomal dominant TPM2-related myopathy|TPM2 myopathy|congenital myopathy related to TPM2	http://purl.obolibrary.org/obo/MONDO_0100196	A congenital myopathy of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle beta-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, amyotrophy, hypotonia, myopathic facies, scoliosis, and sometimes contractures among other phenotypes. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, core-like lesions, fiber-type disproportion, and dystrophic features all observed to some degree.	
MONDO:0100197	parainfluenza infectious disease	biolink:Disease	mondo	OMOP:4008269		parainfluenza infectious disorder|HPIV infectious disorder|parainfluenza (disorder)|human parainfluenza virus infectious disorder|human parainfluenza viruses infectious disorder	http://purl.obolibrary.org/obo/MONDO_0100197	A disease caused by infection with parainfluenza virus. There are four serotypes which cause respiratory illnesses in children and adults.	
UBERON:0003528	brain gray matter	biolink:AnatomicalEntity	mondo			gray matter of brain|grey substance of brain|grey matter of brain|brain grey substance|brain grey matter	http://purl.obolibrary.org/obo/UBERON_0003528	A gray matter that is part of a brain [Automatically generated definition].	
UBERON:0003529	respiratory system lymphatic vessel endothelium	biolink:AnatomicalEntity	mondo			apparatus respiratorius lymphatic vessel endothelium|endothelium of lymph vessel of respiratory system|apparatus respiratorius lymph vessel endothelium|apparatus respiratorius endothelium of lymph vessel|lymph vessel endothelium of apparatus respiratorius|lymphatic vessel endothelium of respiratory system|lymphatic vessel endothelium of apparatus respiratorius|lymph vessel endothelium of respiratory system|respiratory system endothelium of lymph vessel|respiratory system lymphatic vessel endothelium|respiratory system lymph vessel endothelium|endothelium of lymph vessel of apparatus respiratorius	http://purl.obolibrary.org/obo/UBERON_0003529	An lymphatic vessel endothelium that is part of a respiratory system [Automatically generated definition].	
UBERON:0003526	respiratory system capillary	biolink:AnatomicalEntity	mondo			apparatus respiratorius blood capillary|capillary vessel of respiratory system|capillary of apparatus respiratorius|respiratory system blood capillary|respiratory system capillary vessel|capillary of respiratory system|capillary vessel of apparatus respiratorius|apparatus respiratorius capillary|apparatus respiratorius capillary vessel|blood capillary of respiratory system|blood capillary of apparatus respiratorius	http://purl.obolibrary.org/obo/UBERON_0003526	A capillary that is part of a respiratory system [Automatically generated definition].	
UBERON:0003527	kidney capillary	biolink:AnatomicalEntity	mondo			kidney blood capillary|renal capillary|capillary of kidney|blood capillary of kidney|capillary vessel of kidney|kidney capillary vessel	http://purl.obolibrary.org/obo/UBERON_0003527	A capillary that is part of a kidney [Automatically generated definition].	
FOODON:03400644	a.  primary food commodities of plant origin (ccpr)	biolink:OntologyClass	mondo	http://www.langual.org/langual_thesaurus.asp?termid=A0644			http://purl.obolibrary.org/obo/FOODON_03400644		
FOODON:03400643	Codex Alimentarius classification of food and feed commodities	biolink:OntologyClass	mondo	http://www.langual.org/langual_thesaurus.asp?termid=A0643			http://purl.obolibrary.org/obo/FOODON_03400643	Codex Alimentarius, Volume 2 - 1993, Section 2:  Pesticide Residues in Food.  The Codex Classification of food and animal feed commodities moving in trade and the description of the various items and groups of food and animal feedstuffs included in the present document have been developed by the Codex Committee on Pesticide Residues. It was first adopted by the 18th Session of the Codex Alimentarius Commission, (1989).  The Codex Classification includes food commodities and animal feedstuffs for which Codex maximum residue limits will not necessarily be established. The Classification is intended to be as complete a listing of food commodities in trade as possible, classified into groups on the basis of the commodity's similar potential for pesticide residues.  The Classification may also be appropriate for other purposes such as setting maximum levels for other types of residues or for other contaminants in food. The Codex Classification should be consulted in order to obtain a precise description of the food or animal feed commodities and, especially, in cases where Codex maximum residue limits have been set for groups of food and groups of animal feedstuffs. The Codex Classification is intended to promote harmonization of the terms used to describe commodities which are subject to maximum residue limits and of the approach to grouping commodities with similar potential for residue for which a common group maximum residue limit can be set.	
CHEBI:58570	D-tyrosine zwitterion	biolink:ChemicalSubstance	mondo			D-tyrosine|(2R)-2-ammonio-3-(4-hydroxyphenyl)propanoate	http://purl.obolibrary.org/obo/CHEBI_58570	A D-alpha-amino acid zwitterion that is D-tyrosine in which a proton has been transferred from the carboxy group to the amino group. It is the major species at pH 7.3.	
UBERON:0003536	right lung alveolar duct	biolink:AnatomicalEntity	mondo			alveolar duct of right lung	http://purl.obolibrary.org/obo/UBERON_0003536	An alveolar duct that is part of a right lung [Automatically generated definition].	
UBERON:0003533	manual digit skin	biolink:AnatomicalEntity	mondo			skin of terminal segment of free upper limb digit|skin of hand digit|hand digit skin|skin of finger|skin of digit of hand|skin of digitus manus|skin of digit of terminal segment of free upper limb|digitus manus skin|fore limb digit skin|digit of hand skin|digit of terminal segment of free upper limb skin|hand digit skin|terminal segment of free upper limb digit skin|finger skin	http://purl.obolibrary.org/obo/UBERON_0003533	A zone of skin that is part of a finger [Automatically generated definition].	
UBERON:0003534	tail skin	biolink:AnatomicalEntity	mondo			post-vent region skin|skin of post-vent region|skin of tail	http://purl.obolibrary.org/obo/UBERON_0003534	A zone of skin that is part of a tail [Automatically generated definition].	
UBERON:0003531	forelimb skin	biolink:AnatomicalEntity	mondo			skin of fore limb|upper limb skin|fore limb skin|wing skin|skin of upper limb|anteriormost limb skin|skin of forelimb	http://purl.obolibrary.org/obo/UBERON_0003531	A zone of skin that is part of a forelimb [Automatically generated definition].	
UBERON:0003532	hindlimb skin	biolink:AnatomicalEntity	mondo			hind limb skin|skin of lower extremity|skin of hindlimb|lower limb skin|skin of lower limb|skin of hind limb	http://purl.obolibrary.org/obo/UBERON_0003532	A zone of skin that is part of a hindlimb [Automatically generated definition].	
NCBITaxon:310911	Amdoparvovirus	organism taxon	mondo	GC_ID:1		Amdovirus	http://purl.obolibrary.org/obo/NCBITaxon_310911		
UBERON:0003530	pedal digit skin	biolink:AnatomicalEntity	mondo			foot digit skin|skin of foot digit|skin of digitus pedis|skin of digit of foot|skin of digit of terminal segment of free lower limb|digit of foot skin|digitus pedis skin|foot digit skin|digit of terminal segment of free lower limb skin|hind limb digit skin|skin of terminal segment of free lower limb digit|skin of toe|toe skin|terminal segment of free lower limb digit skin	http://purl.obolibrary.org/obo/UBERON_0003530	A zone of skin that is part of a toe [Automatically generated definition].	
MONDO:0006903	peroneal nerve paralysis	biolink:Disease	mondo	ICD10:G57.3|EFO:1001102|SCTID:399088004|UMLS:C0270810|DOID:6925|MedDRA:10033828|NCIT:C27061		nerve palsy, peroneal|palsy, peroneal nerve|peroneal nerve palsy	http://purl.obolibrary.org/obo/MONDO_0006903	Paralysis of the nerves located in the legs.	SNOMEDCT:399088004|DOID:6925|UMLS:C0270810|NCIT:C27061
MONDO:0006904	phimosis	biolink:Disease	mondo	NCIT:C26852|ICD10:N47.1|EFO:1001104|MedDRA:10034878|SCTID:449826002|MESH:D010688|DOID:2712		tight frenulum|tight foreskin	http://purl.obolibrary.org/obo/MONDO_0006904	A condition in which there is constriction in the tip of the foreskin resulting in inability to fully retract the foreskin over the glans penis. Causes include balanoposthitis, balanitis xerotica obliterans, and untreated diabetes.	NCIT:C26852|SNOMEDCT:449826002|MESH:D010688|DOID:2712
MONDO:0006901	peritoneal neoplasm	biolink:Disease	mondo	MedDRA:10061344|SCTID:126865007|EFO:1001100|MESH:D010534|NCIT:C3322		peritoneal neoplasm|peritoneum tumor|peritoneum neoplasm|tumor of peritoneum|peritoneum neoplasm (disease)|neoplasm of peritoneum	http://purl.obolibrary.org/obo/MONDO_0006901	A benign or malignant neoplasm that affects the peritoneal cavity. Representative examples of benign neoplasms include adenomatoid tumor and disseminated peritoneal leiomyomatosis. Representative examples of malignant neoplasms include primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma.	NCIT:C3322|MESH:D010534|SNOMEDCT:126865007
UBERON:0003519	thoracic cavity blood vessel	biolink:AnatomicalEntity	mondo			pectoral cavity blood vessel|cavity of chest blood vessel|blood vessel of chest cavity|chest cavity blood vessel|blood vessel of cavity of thorax|cavity of thorax blood vessel|blood vessel of thoracic cavity|blood vessel of cavity of chest|blood vessel of pectoral cavity	http://purl.obolibrary.org/obo/UBERON_0003519	A blood vessel that is part of a thoracic cavity [Automatically generated definition].	
MONDO:0006902	obsolete periventricular leukomalacia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006902		
UBERON:0003517	kidney blood vessel	biolink:AnatomicalEntity	mondo			renal blood vessel|blood vessel of kidney	http://purl.obolibrary.org/obo/UBERON_0003517	A blood vessel that is part of a kidney [Automatically generated definition].	
MONDO:0006900	perinephritis	biolink:Disease	mondo	DOID:2982|SCTID:111404004|MESH:D010501|EFO:1001099|MedDRA:10072058|UMLS:C0031065		perirenal fat inflammation|inflammation of perirenal fat	http://purl.obolibrary.org/obo/MONDO_0006900	Inflammation of the connective and adipose tissues surrounding the kidney.	SNOMEDCT:111404004|UMLS:C0031065|MESH:D010501|DOID:2982
UBERON:0003518	main bronchus blood vessel	biolink:AnatomicalEntity	mondo			blood vessel of principal bronchus|principal bronchus blood vessel|principal bronchus vascular element|blood vessel of primary bronchus|blood vessel of main bronchus|bronchus principalis blood vessel|blood vessel of bronchus principalis|primary bronchus blood vessel|primary bronchus vascular element	http://purl.obolibrary.org/obo/UBERON_0003518	A blood vessel that is part of a main bronchus [Automatically generated definition].	
UBERON:0003515	forelimb blood vessel	biolink:AnatomicalEntity	mondo			wing blood vessel|fore limb blood vessel|anteriormost limb blood vessel|blood vessel of forelimb|blood vessel of anteriormost limb|blood vessel of upper extremity|blood vessel of fore limb	http://purl.obolibrary.org/obo/UBERON_0003515	A blood vessel that is part of a forelimb [Automatically generated definition].	
UBERON:0003516	hindlimb blood vessel	biolink:AnatomicalEntity	mondo			blood vessel of hind limb|hind limb blood vessel|blood vessel of lower extremity|blood vessel of hindlimb	http://purl.obolibrary.org/obo/UBERON_0003516	A blood vessel that is part of a hindlimb [Automatically generated definition].	
GO:0045321	leukocyte activation	biolink:OntologyClass	mondo			immune cell activation|leucocyte activation	http://purl.obolibrary.org/obo/GO_0045321	A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor.	
FOODON:03400652	04  nuts and seeds (ccpr)	biolink:OntologyClass	mondo	http://www.langual.org/langual_thesaurus.asp?termid=A0652			http://purl.obolibrary.org/obo/FOODON_03400652	TYPE 04  -  NUTS AND SEEDS  Nuts and seeds are derived from a large variety of trees, shrubs and herbaceous plants, mostly cultivated.  The mature seeds or nuts are used as human food, for the production of beverages or edible vegetable oils and for the production of seed meals and cakes for animal feed.	
UBERON:0003524	tail blood vessel	biolink:AnatomicalEntity	mondo			blood vessel of tail|post-vent region blood vessel|blood vessel of post-vent region	http://purl.obolibrary.org/obo/UBERON_0003524	A blood vessel that is part of a tail [Automatically generated definition].	
UBERON:0003522	manual digit blood vessel	biolink:AnatomicalEntity	mondo			blood vessel of terminal segment of free upper limb digit|terminal segment of free upper limb digit blood vessel|finger blood vessel|hand digit blood vessel|blood vessel of digit of terminal segment of free upper limb|digit of terminal segment of free upper limb blood vessel|hand digit blood vessel	http://purl.obolibrary.org/obo/UBERON_0003522	A blood vessel that is part of a finger [Automatically generated definition].	
UBERON:0003523	manus blood vessel	biolink:AnatomicalEntity	mondo			blood vessel of hand|blood vessel of manus|hand blood vessel	http://purl.obolibrary.org/obo/UBERON_0003523	A blood vessel that is part of a manus [Automatically generated definition].	
UBERON:0003520	pelvis blood vessel	biolink:AnatomicalEntity	mondo			blood vessel of pelvis	http://purl.obolibrary.org/obo/UBERON_0003520	A blood vessel that is part of a pelvis [Automatically generated definition].	
UBERON:0003521	pes blood vessel	biolink:AnatomicalEntity	mondo			blood vessel of foot|foot blood vessel	http://purl.obolibrary.org/obo/UBERON_0003521	A blood vessel that is part of a foot [Automatically generated definition].	
UBERON:0003508	pedal digit blood vessel	biolink:AnatomicalEntity	mondo			digitus pedis blood vessel|digit of foot blood vessel|foot digit blood vessel|digit of terminal segment of free lower limb blood vessel|blood vessel of terminal segment of free lower limb digit|blood vessel of toe|hind limb digit blood vessel|toe blood vessel|terminal segment of free lower limb digit blood vessel|foot digit blood vessel|blood vessel of foot digit|blood vessel of digit of foot|blood vessel of digitus pedis|blood vessel of digit of terminal segment of free lower limb	http://purl.obolibrary.org/obo/UBERON_0003508	A blood vessel that is part of a toe [Automatically generated definition].	
UBERON:0003509	arterial blood vessel	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0003509	A blood vessel that is part of the arterial system. Includes artery, arteriole and aorta.	
UBERON:0003506	chest blood vessel	biolink:AnatomicalEntity	mondo			blood vessel of anterolateral part of thorax|anterior thoracic region blood vessel|anterolateral part of thorax blood vessel|blood vessel of anterior thoracic region|blood vessel of chest|front of thorax blood vessel|blood vessel of front of thorax	http://purl.obolibrary.org/obo/UBERON_0003506	A blood vessel that is part of a chest [Automatically generated definition].	
UBERON:0003507	arm blood vessel	biolink:AnatomicalEntity	mondo			blood vessel of arm	http://purl.obolibrary.org/obo/UBERON_0003507	A blood vessel that is part of an arm [Automatically generated definition].	
UBERON:0003504	respiratory system blood vessel	biolink:AnatomicalEntity	mondo			blood vessel of apparatus respiratorius|apparatus respiratorius blood vessel|blood vessel of respiratory system	http://purl.obolibrary.org/obo/UBERON_0003504	A blood vessel that is part of a respiratory system [Automatically generated definition].	
UBERON:0003505	trachea blood vessel	biolink:AnatomicalEntity	mondo			blood vessel of trachea	http://purl.obolibrary.org/obo/UBERON_0003505	A blood vessel that is part of a trachea.	
UBERON:2001431	primitive olfactory epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_2001431		
GO:0045333	cellular respiration	biolink:OntologyClass	mondo			oxidative metabolic process|respiration|oxidative metabolism	http://purl.obolibrary.org/obo/GO_0045333	The enzymatic release of energy from inorganic and organic compounds (especially carbohydrates and fats) which either requires oxygen (aerobic respiration) or does not (anaerobic respiration).	
GO:0060973	cell migration involved in heart development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060973	The orderly movement of a cell from one site to another that will contribute to the progression of the heart over time, from its initial formation, to the mature organ.	
UBERON:0003513	trunk blood vessel	biolink:AnatomicalEntity	mondo			blood vessel of trunk|blood vessel of torso|torso blood vessel	http://purl.obolibrary.org/obo/UBERON_0003513	A blood vessel that is part of a trunk [Automatically generated definition].	
UBERON:0003514	limb blood vessel	biolink:AnatomicalEntity	mondo			blood vessel of limb	http://purl.obolibrary.org/obo/UBERON_0003514	A blood vessel that is part of a limb [Automatically generated definition].	
UBERON:0003511	iris blood vessel	biolink:AnatomicalEntity	mondo			blood vessel of iris	http://purl.obolibrary.org/obo/UBERON_0003511	A blood vessel that is part of a iris [Automatically generated definition].	
UBERON:0003512	lung blood vessel	biolink:AnatomicalEntity	mondo			blood vessel of lung|pulmonary vascular element	http://purl.obolibrary.org/obo/UBERON_0003512	A blood vessel that is part of a lung [Automatically generated definition].	
UBERON:0003510	eyelid blood vessel	biolink:AnatomicalEntity	mondo			blood vessel of blepharon|blood vessel of eyelid|blepharon blood vessel	http://purl.obolibrary.org/obo/UBERON_0003510	A blood vessel that is part of a eyelid [Automatically generated definition].	
OBO:mondo#DEPRECATED	A synonym that is historic and discouraged	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/mondo#DEPRECATED		
UBERON:0003502	neck blood vessel	biolink:AnatomicalEntity	mondo			blood vessel of neck|neck (volume) blood vessel|blood vessel of neck (volume)	http://purl.obolibrary.org/obo/UBERON_0003502	A blood vessel that is part of a neck [Automatically generated definition].	
UBERON:0003503	leg blood vessel	biolink:AnatomicalEntity	mondo			blood vessel of leg	http://purl.obolibrary.org/obo/UBERON_0003503	A blood vessel that is part of a leg [Automatically generated definition].	
UBERON:0003500	corneal blood vessel	biolink:AnatomicalEntity	mondo			blood vessel of cornea|cornea blood vessel	http://purl.obolibrary.org/obo/UBERON_0003500	A blood vessel that is part of a cornea [Automatically generated definition].	
UBERON:0003501	retina blood vessel	biolink:AnatomicalEntity	mondo			blood vessel of inner layer of eyeball|blood vessel of retina|tunica interna of eyeball blood vessel|inner layer of eyeball blood vessel|retinal blood vessel|blood vessel of tunica interna of eyeball	http://purl.obolibrary.org/obo/UBERON_0003501	A blood vessel that is part of a retina [Automatically generated definition].	
MONDO:0041261	disorder of acid-base balance	biolink:Disease	mondo	SCTID:26436007|UMLS:C0268029		disorder of acid-base balance|disturbance of acid-base balance	http://purl.obolibrary.org/obo/MONDO_0041261		UMLS:C0268029|SNOMEDCT:26436007
ECTO:9001811	protic solvent exposure	biolink:OntologyClass	mondo			exposure to protic solvent	http://purl.obolibrary.org/obo/ECTO_9001811	An exposure to protic solvent.	
MONDO:0041259	diphtheritic myocarditis	biolink:Disease	mondo	SCTID:26117009|UMLS:C0152952		Corynebacterium diphtheriae myocarditis|diphtheritic myocarditis|Corynebacterium diphtheriae caused myocarditis	http://purl.obolibrary.org/obo/MONDO_0041259	An myocarditis caused by infection with Corynebacterium diphtheriae.	SNOMEDCT:26117009|UMLS:C0152952
ECTO:9001813	amphiprotic solvent exposure	biolink:OntologyClass	mondo			exposure to amphiprotic solvent	http://purl.obolibrary.org/obo/ECTO_9001813	An exposure to amphiprotic solvent.	
GO:0033365	protein localization to organelle	biolink:OntologyClass	mondo			protein localization in organelle|protein localisation to organelle	http://purl.obolibrary.org/obo/GO_0033365	A process in which a protein is transported to, or maintained in, a location within an organelle.	
GO:0033363	secretory granule organization	biolink:OntologyClass	mondo			secretory granule organisation|secretory granule organization and biogenesis	http://purl.obolibrary.org/obo/GO_0033363	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a secretory granule. A secretory granule is a small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion.	
MONDO:0016290	Hernández-Aguirre Negrete syndrome	biolink:Disease	mondo	Orphanet:2139|MONDO:0022314|SCTID:721146009|GARD:0003491|ICD10:Q87.8|MESH:C538112	ordo_malformation_syndrome	Ehlers-Danlos syndrome with progeroid facies and mild mental retardation|intellectual disability-epilepsy-bulbous nose syndrome|Ehlers-Danlos syndrome with progeroid facies and mild intellectual disability	http://purl.obolibrary.org/obo/MONDO_0016290	Hernández-Aguirre Negrete syndrome is characterized by major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families. This condition is likely to be transmitted as an autosomal recessive trait.	MESH:C538112|ORPHA:2139|SNOMEDCT:721146009|UMLS:C2931736
MONDO:0016291	craniosynostosis, Herrmann-Opitz type	biolink:Disease	mondo	ICD10:Q75.0|Orphanet:2145|UMLS:CN226893|GARD:0002671	gard_rare|ordo_malformation_syndrome	Herrmann Opitz craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0016291	Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987.	ORPHA:2145|UMLS:CN226893
MONDO:0016292	nodular neuronal heterotopia	biolink:Disease	mondo	SCTID:253151003|Orphanet:2149|ICD10:Q04.8|GARD:0002661	ordo_morphological_anomaly	genetic nodular heterotopia|hereditary nodular heterotopia|nodular heterotopia	http://purl.obolibrary.org/obo/MONDO_0016292		ORPHA:2149|SNOMEDCT:253151003
MONDO:0016293	congenital stationary night blindness	biolink:Disease	mondo	Orphanet:215|DOID:0050534|ICD10:H53.6|ICD10:H53.63|SCTID:232061009|ICD9:368.61|MESH:C536122|OMIMPS:310500	ordo_disease	night blindness, congenital stationary|congenital essential nyctalopia	http://purl.obolibrary.org/obo/MONDO_0016293		ORPHA:215|MESH:C536122|UMLS:C0339535|DOID:0050534|SNOMEDCT:232061009
ECTO:9001822	antagonist exposure	biolink:OntologyClass	mondo			exposure to antagonist	http://purl.obolibrary.org/obo/ECTO_9001822	An exposure to antagonist.	
MONDO:0016298	postlingual non-syndromic genetic deafness	biolink:Disease	mondo	SCTID:764097002|Orphanet:216452	ordo_disease	isolated postlingual genetic deafness	http://purl.obolibrary.org/obo/MONDO_0016298	Postlingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by progressive, bilateral, moderate to profound hearing loss (mean sensorineural hearing impairment equal to 40 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs after the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. Language development is not initially significantly delayed.	SNOMEDCT:764097002|ORPHA:216452
MONDO:0016299	holoprosencephaly-caudal dysgenesis syndrome	biolink:Disease	mondo	ICD10:Q04.2|Orphanet:2165|UMLS:CN201097	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0016299	Holoprosencephaly-caudal dysgenesis syndrome is a central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).	ORPHA:2165|UMLS:CN201097
MONDO:0016294	Hirschsprung disease-type D brachydactyly syndrome	biolink:Disease	mondo	MESH:C538319|Orphanet:2150|ICD10:Q43.1|UMLS:C1844017|GARD:0002700|OMIM:306980	ordo_malformation_syndrome	Hirschsprung disease with type D brachydactyly|Hirschsprung disease with type d brachydactyly|Hirschsprung disease type d brachydactyly|familial Hirschsprung's disease and type D brachydactyly	http://purl.obolibrary.org/obo/MONDO_0016294	Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out.	ORPHA:2150|MESH:C538319|UMLS:C1844017|http://identifiers.org/omim/306980
MONDO:0016295	neuronal ceroid lipofuscinosis	biolink:Disease	mondo	OMIMPS:256730|GARD:0010739|Orphanet:216|NCIT:C61257|DOID:14503|ICD10:E75.4|SCTID:42012007|UMLS:C0027877	ordo_group_of_disorders	NCL|ceroid lipofuscinoses|hereditary ceroid lipofuscinosis	http://purl.obolibrary.org/obo/MONDO_0016295	Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.	UMLS:C0027877|MESH:D009472|ORPHA:216|DOID:14503|NCIT:C61257|SNOMEDCT:42012007
MONDO:0016296	holoprosencephaly	biolink:Disease	mondo	ICD10:Q04.2|MESH:D016142|UMLS:C0079541|NCIT:C74988|DOID:4621|OMIMPS:236100|Orphanet:2162|GARD:0006665|SCTID:30915001|MedDRA:10056304	gard_rare|ordo_malformation_syndrome	HPE|holoprosencephaly sequence	http://purl.obolibrary.org/obo/MONDO_0016296	Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity.	ORPHA:2162|UMLS:C0079541|SNOMEDCT:30915001|DOID:4621|NCIT:C74988|MEDDRA:10056304|MESH:D016142
MONDO:0016297	prelingual non-syndromic genetic deafness	biolink:Disease	mondo	SCTID:764098007|Orphanet:216445	ordo_disease	isolated prelingual genetic deafness	http://purl.obolibrary.org/obo/MONDO_0016297	Prelingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition.	ORPHA:216445|SNOMEDCT:764098007
MONDO:0016280	sarcoma of cervix uteri	biolink:Disease	mondo	UMLS:CN201070|ICD10:C53.8|ICD10:C53.0|Orphanet:213797|ICD10:C53.1	ordo_group_of_disorders	sarcoma of uterine cervix|malignant mesenchymal tumor of cervix uteri|cervical malignant mesenchymal tumor|cervical sarcoma|uterine cervix sarcoma	http://purl.obolibrary.org/obo/MONDO_0016280	A sarcoma involving a uterine cervix.	UMLS:CN201070|ORPHA:213797
MONDO:0016281	46,XX ovotesticular disorder of sex development	biolink:Disease	mondo	ICD10:Q56.0|SCTID:18978002|MESH:D050090|Orphanet:2138|UMLS:CN776920|NCIT:C127167|UMLS:C2748895	ordo_malformation_syndrome	ovotesticular disorders of Sex development|46,XX ovotesticular DSD|ovotesticular differences of Sex development|ovotesticular DSD|true hermaphroditism	http://purl.obolibrary.org/obo/MONDO_0016281	46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.	ORPHA:2138|NCIT:C127167|UMLS:C2748895|MESH:D050090|UMLS:CN776920|SNOMEDCT:18978002
ECTO:0001659	chloroacetic acid exposure	biolink:OntologyClass	mondo			exposure to chloroacetic acid	http://purl.obolibrary.org/obo/ECTO_0001659	An exposure to chloroacetic acid.	
MONDO:0016282	rhabdomyosarcoma of the cervix uteri	biolink:Disease	mondo	ICD10:C53.8|UMLS:CN201072|UMLS:C4289809|ICD10:C53.0|Orphanet:213802|ICD10:C53.1|NCIT:C128048|ONCOTREE:CERMS|SCTID:763408003	ordo_disease	rhabdomyosarcoma (disease) of uterine cervix|uterine cervix rhabdomyosarcoma|cervical rhabdomyosarcoma|CERMS|uterine cervix rhabdomyosarcoma (disease)	http://purl.obolibrary.org/obo/MONDO_0016282	A rare malignant neoplasm with skeletal muscle differentiation arising from the cervix.	UMLS:C4289809|UMLS:CN201072|NCIT:C128048|ORPHA:213802|SNOMEDCT:763408003
MONDO:0100100	SELENON-related myopathy	biolink:Disease	mondo			SEPN1-related myopathy	http://purl.obolibrary.org/obo/MONDO_0100100	Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present.	
MONDO:0004298	stomach disease	biolink:Disease	mondo	UMLS:C0038354|NCIT:C26886|ICD9:537.9|SCTID:29384001|MESH:D013272|DOID:76|ICD9:537.89		gastropathy|disorder of stomach|gastric disease|stomach disease|disease or disorder of stomach|disease of stomach|stomach disease or disorder|stomach disorder|disorder of stomach	http://purl.obolibrary.org/obo/MONDO_0004298	A disease involving the stomach.	NCIT:C26886|DOID:76|UMLS:C0038354|MESH:D013272|SNOMEDCT:29384001
MONDO:0100101	fetal akinesia deformation sequence 1	biolink:Disease	mondo	DOID:0111377|OMIM:208150|Orphanet:994		FADS1|Pena-Shokeir syndrome type 1|Pena-Shokeir syndrome, type 1	http://purl.obolibrary.org/obo/MONDO_0100101	Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the MUSK gene.	DOID:0111377|ORPHA:994|http://identifiers.org/omim/208150
MONDO:0004297	lymphoepithelioma-like thymic carcinoma	biolink:Disease	mondo	UMLS:C0279706|NCIT:C7998|DOID:7599		lymphoepithelioma-like carcinoma of the Thymus|malignant lymphoepithelial thymoma|lymphoepithelioma-like Thymus carcinoma|lymphoepithelial cancer of Thymus|lymphoepithelial cancer of the Thymus|lymphoepithelial Thymus cancer|lymphoepithelioma-like thymic carcinoma|lymphoepithelioma-like carcinoma of Thymus|thymic lymphoepithelioma-like carcinoma	http://purl.obolibrary.org/obo/MONDO_0004297	A rare, usually aggressive primary thymic carcinoma, characterized by a syncytial growth of undifferentiated carcinoma cells and the presence of a lymphoplasmacytic infiltrate. More than 40% of cases are associated with Epstein-Barr virus infection.	DOID:7599|UMLS:C0279706|NCIT:C7998
MONDO:0100102	fetal akinesia deformation sequence 2	biolink:Disease	mondo	DOID:0111378|OMIM:618388		FADS2	http://purl.obolibrary.org/obo/MONDO_0100102	Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the RAPSN gene.	DOID:0111378|http://identifiers.org/omim/618388
MONDO:0100103	fetal akinesia deformation sequence 3	biolink:Disease	mondo	OMIM:618389|DOID:0111376		FADS3	http://purl.obolibrary.org/obo/MONDO_0100103	Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the DOK7 gene.	DOID:0111376|http://identifiers.org/omim/618389
MONDO:0004299	infiltrating bladder lymphoepithelioma-like carcinoma	biolink:Disease	mondo	EFO:1000302|UMLS:C1512736|NCIT:C39821|DOID:7600		infiltrating bladder lymphoepithelioma-like carcinoma	http://purl.obolibrary.org/obo/MONDO_0004299		NCIT:C39821|DOID:7600|UMLS:C1512736
MONDO:0004294	gestational ovarian choriocarcinoma	biolink:Disease	mondo	NCIT:C40442|DOID:7591|UMLS:C1517538		gestational ovarian choriocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004294	A rare malignant trophoblastic tumor that arises from the ovary as a result of ectopic ovarian pregnancy. There is no germ cell component present.	UMLS:C1517538|DOID:7591|NCIT:C40442
MONDO:0100104	fetal akinesia deformation sequence 4	biolink:Disease	mondo	DOID:0111379|OMIM:618393		FADS4	http://purl.obolibrary.org/obo/MONDO_0100104	Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the NUP88 gene.	DOID:0111379|http://identifiers.org/omim/618393
MONDO:0004293	supraglottis squamous cell carcinoma	biolink:Disease	mondo	NCIT:C4945|DOID:7587|UMLS:C0749163		squamous cell carcinoma of the supraglottis|supraglottic part of larynx squamous cell carcinoma|epidermoid carcinoma of supraglottis|supraglottic squamous cell carcinoma|supraglottis squamous cell carcinoma|epidermoid carcinoma of the supraglottis|supraglottis epidermoid carcinoma|supraglottic epidermoid carcinoma|squamous cell carcinoma of supraglottis	http://purl.obolibrary.org/obo/MONDO_0004293	A squamous cell carcinoma of the larynx that arises from the supraglottic area. Signs and symptoms include dysphagia, a sensation of foreign body in the throat, and hemoptysis. It spreads to the space anterior to the epiglottis, pyriform sinus, and base of the tongue.	NCIT:C4945|DOID:7587|UMLS:C0749163
MONDO:0041284	primary motor cortex epilepsy	biolink:Disease	mondo	UMLS:C0234978|SCTID:267592003		primary motor cortex epilepsy|Jacksonian epilepsy|epilepsy of primary motor cortex|motor cortex epilepsy	http://purl.obolibrary.org/obo/MONDO_0041284	A epilepsy that involves the primary motor cortex.	UMLS:C0234978|SNOMEDCT:267592003
MONDO:0100105	brain small vessel disease 3	biolink:Disease	mondo	OMIM:618360		BSVD3	http://purl.obolibrary.org/obo/MONDO_0100105	An autosomal recessive disorder resulting from fragility of cerebral vessels causing an increased risk of intracranial bleeding. The resultant phenotype is highly variable depending on timing and location of the intracranial bleed. Some patients may have onset in utero or early infancy, with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration.	http://identifiers.org/omim/618360
MONDO:0004296	cervical lymphoepithelioma-like carcinoma	biolink:Disease	mondo	NCIT:C40193|UMLS:C1516418|DOID:7598		cervical lymphoepithelioma-like carcinoma	http://purl.obolibrary.org/obo/MONDO_0004296	A variant of cervical squamous cell carcinoma characterized by the presence of islands of cells with uniform, vesicular nuclei and prominent nucleoli and a dense lymphocytic infiltrate.	UMLS:C1516418|NCIT:C40193|DOID:7598
MONDO:0100106	neonatal epileptic encephalopathy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100106	A form of age-related epileptic encephalopathy, characterized by the onset of seizures within the first 4 weeks of life that can be generalized or lateralized, independent of the sleep cycle, and that can result in frequent seizures per day, leading to psychomotor impairment and death.	
MONDO:0004295	asbestos-related lung carcinoma	biolink:Disease	mondo	DOID:7596|NCIT:C27925|UMLS:C1332337		asbestos-related lung carcinoma|asbestos-related lung cancer	http://purl.obolibrary.org/obo/MONDO_0004295	A carcinoma arising in the lung due to exposure to asbestos.	NCIT:C27925|DOID:7596|UMLS:C1332337
MONDO:0100107	non-neonatal early infantile epileptic encephalopathy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100107	Non-neonatal early-onset epileptic encephalopathy is a form an of age-related epileptic encephalopathies, characterized by the onset of seizures later than the first 4 weeks of life but within the first three months. Seizures can be generalized or lateralized, independent of the sleep cycle and can occur multiple times per day, leading to psychomotor impairment and death.	
MONDO:0004290	subglottis verrucous carcinoma	biolink:Disease	mondo	UMLS:C0280330|NCIT:C8190|DOID:7584		subglottis verrucous carcinoma|subglottic verrucous carcinoma|verrucous carcinoma of subglottis|verrucous carcinoma of the subglottis	http://purl.obolibrary.org/obo/MONDO_0004290	An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the subglottic area of the larynx.	DOID:7584|NCIT:C8190|UMLS:C0280330
MONDO:0004292	supraglottis verrucous carcinoma	biolink:Disease	mondo	UMLS:C0280331|NCIT:C8191|DOID:7586		verrucous carcinoma of supraglottis|verrucous carcinoma of the supraglottis|supraglottic verrucous carcinoma|supraglottis verrucous carcinoma|supraglottic part of larynx verrucous carcinoma	http://purl.obolibrary.org/obo/MONDO_0004292	An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the supraglottic area of the larynx.	DOID:7586|NCIT:C8191|UMLS:C0280331
MONDO:0004291	subglottis squamous cell carcinoma	biolink:Disease	mondo	UMLS:C0280326|NCIT:C8187|DOID:7585		epidermoid carcinoma of the subglottis|squamous cell carcinoma of subglottis|subglottis squamous cell carcinoma|squamous cell carcinoma of the subglottis|epidermoid carcinoma of subglottis|subglottic epidermoid carcinoma|subglottic squamous cell carcinoma|subglottis epidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0004291	A squamous cell carcinoma of the larynx that arises from the subglottic area. Symptoms include dyspnea and stridor. It spreads to the hypopharynx, trachea, and thyroid gland.	DOID:7585|NCIT:C8187|UMLS:C0280326
MONDO:0016287	adenoid basal carcinoma of the cervix uteri	biolink:Disease	mondo	ICD10:C53.1|Orphanet:213828|ICD10:C53.8|UMLS:CN201077|ICD10:C53.0	ordo_disease	skin adenoid basal cell carcinoma of uterine cervix|uterine cervix skin adenoid basal cell carcinoma|cervical adenoid basal carcinoma	http://purl.obolibrary.org/obo/MONDO_0016287	A skin adenoid basal cell carcinoma that involves the uterine cervix.	UMLS:CN201077|ORPHA:213828
MONDO:0016288	obsolete glassy cell carcinoma of the cervix uteri	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016288		
MONDO:0016289	malignant germ cell tumor of cervix uteri	biolink:Disease	mondo	Orphanet:213837|ICD10:C53.8|ICD10:C53.0|UMLS:CN201079|ICD10:C53.1	ordo_disease	germ cell cancer of cervix uteri|cervical malignant germ cell tumor|germ cell cancer of the cervix uteri|malignant germ cell tumor of the cervix uteri|cervical germ cell cancer|uterine cervix malignant germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0016289	A malignant germ cell tumor that involves the uterine cervix.	UMLS:CN201079|ORPHA:213837
MONDO:0016283	leiomyosarcoma of the cervix uteri	biolink:Disease	mondo	Orphanet:213807|ICD10:C53.1|UMLS:C4289817|NCIT:C128047|ICD10:C53.8|SCTID:763771009|ONCOTREE:CELI|UMLS:CN201073|ICD10:C53.0	ordo_disease	cervical leiomyosarcoma|CELI|uterine cervix leiomyosarcoma|leiomyosarcoma of uterine cervix	http://purl.obolibrary.org/obo/MONDO_0016283	Leiomyosarcoma of the cervix uteri is a rare, malignant mesenchymal tumor of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastatsize hematogenously, especially to the lungs, peritoneum, bones and the liver.	UMLS:C4289817|UMLS:CN201073|NCIT:C128047|ORPHA:213807|SNOMEDCT:763771009
GO:0033343	positive regulation of collagen binding	biolink:OntologyClass	mondo			activation of collagen binding|upregulation of collagen binding|up regulation of collagen binding|stimulation of collagen binding|up-regulation of collagen binding	http://purl.obolibrary.org/obo/GO_0033343	Any process that activates or increases the frequency, rate or extent of collagen binding.	
MONDO:0016284	primitive neuroectodermal tumor of the cervix uteri	biolink:Disease	mondo	ICD10:C53.0|ICD10:C53.1|Orphanet:213812|UMLS:CN201074|ICD10:C53.8	ordo_disease	cervical malignant peripheral neuroectodermal tumor|peripheral neuroectodermal cancer of cervix uteri|cervical peripheral neuroectodermal cancer|malignant peripheral neuroectodermal tumor of the cervix uteri	http://purl.obolibrary.org/obo/MONDO_0016284	Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfuntional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement.	UMLS:CN201074|ORPHA:213812
GO:0033342	negative regulation of collagen binding	biolink:OntologyClass	mondo			down regulation of collagen binding|inhibition of collagen binding|down-regulation of collagen binding|downregulation of collagen binding	http://purl.obolibrary.org/obo/GO_0033342	Any process that stops, prevents, or reduces the frequency, rate or extent of collagen binding.	
MONDO:0016285	papillary carcinoma of the cervix uteri	biolink:Disease	mondo	ICD10:C53.1|Orphanet:213817|ICD10:C53.8|UMLS:CN201075|ICD10:C53.0	ordo_disease	uterine cervix papillary carcinoma|cervical papillary carcinoma	http://purl.obolibrary.org/obo/MONDO_0016285	A papillary carcinoma that involves the uterine cervix.	UMLS:CN201075|ORPHA:213817
GO:0033341	regulation of collagen binding	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0033341	Any process that modulates the frequency, rate or extent of collagen binding.	
MONDO:0016286	adenoid cystic carcinoma of the cervix uteri	biolink:Disease	mondo	ICD10:C53.8|ICD10:C53.0|ICD10:C53.1|Orphanet:213823	ordo_disease	uterine cervix adenoid cystic carcinoma|cervical adenoid cystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0016286	A adenoid cystic carcinoma that involves the uterine cervix.	ORPHA:213823
MONDO:0016270	low-grade neuroendocrine tumor of the corpus uteri	biolink:Disease	mondo	ICD10:C54.8|ICD10:C54.3|Orphanet:213736|ICD10:C54.2|ICD10:C54.1|UMLS:CN201059|ICD10:C54.0	ordo_disease	well-differentiated neuroendocrine tumor of the endometrium|low-grade neuroendocrine tumor of the uterine corpus|well-differentiated neuroendocrine tumor of the corpus uteri|well-differentiated neuroendocrine neoplasm of the endometrium	http://purl.obolibrary.org/obo/MONDO_0016270	Low-grade neuroendocrine tumor of the corpus uteri is an extremely rare uterine cancer typically characterized by a well demarcated, solid, frequently pedunculated tumor originating from neuroendocrine cells scattered within the endometrium, often associated with ectopic hormone production. Patients usually present with vaginal bleeding or discharge and a pelvic mass with a polypoid tumor sometimes protruding through the cervical canal. Symptoms related to ectopic hormone production (flushing, sweating, diarrhea, bronchospasm) may also develop.	UMLS:CN201059|ORPHA:213736
MONDO:0016271	adenoid cystic carcinoma of the corpus uteri	biolink:Disease	mondo	ICD10:C54.8|ICD10:C54.3|ICD10:C54.2|ICD10:C54.1|Orphanet:213741|ICD10:C54.0	ordo_disease	endometrial adenoid cystic carcinoma|body of uterus adenoid cystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0016271	A adenoid cystic carcinoma that involves the body of uterus.	ORPHA:213741
MONDO:0100110	adenovirus renal infection	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100110		
MONDO:0100112	ACBD5 deficiency	biolink:Disease	mondo			acyl-CoA binding domain containing protein 5 deficiency	http://purl.obolibrary.org/obo/MONDO_0100112	A disorder of a single peroxisomal protein, acyl-CoA binding domain containing protein 5, which forms a contact site between the peroxisomes and the ER. The deficiency is characterized by elevated blood very long-chain fatty acids (VLCFAs), retinal dystrophy, cerebral white matter disease and psychomotor delay.	
ECTO:9001809	polar solvent exposure	biolink:OntologyClass	mondo			exposure to polar solvent	http://purl.obolibrary.org/obo/ECTO_9001809	An exposure to polar solvent.	
MONDO:0100113	hearing loss with skin disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100113	Nonsyndromic deafness, keratitis-ichthyosis-deafness syndrome, and palmoplantar keratoderma with deafness have all been associated with autosomal dominant variants in GJB2. Reported cases share hearing loss as a feature, therefore it is likely that these phenotypes exist along a spectrum of the same disease, differing in severity of skin phenotypes.	
MONDO:0100114	dry age related macular degeneration	biolink:Disease	mondo	MEDDRA:10075567		dry AMD|dry ARMD	http://purl.obolibrary.org/obo/MONDO_0100114	Dry age related macular degeneration is characterized by the presence of age-related deposits called drusen and atrophy.	
MONDO:0100115	acute flaccid myelitis	biolink:Disease	mondo	NCIT:C128379		AFM	http://purl.obolibrary.org/obo/MONDO_0100115	An acute onset of focal limb weakness that is associated mainly with gray matter abnormalities or CSF pleocytosis, but which is without an apparent cause.	NCIT:C128379
MONDO:0100116	Middle East respiratory syndrome	biolink:Disease	mondo	UMLS:C3694279|Orphanet:576074|NCIT:C128424|DOID:0080642	ordo_disease	MERS|camel flu	http://purl.obolibrary.org/obo/MONDO_0100116	A viral respiratory infection that is caused by the MERS coronavirus (MERS-CoV), which most often manifests with moderate to severe respiratory symptoms, including productive cough and shortness of breath, which can progress to pneumonia and acute respiratory distress syndrome.	NCIT:C128424|ORPHA:576074|UMLS:C3694279|DOID:0080642
MONDO:0041295	acute papillary necrosis	biolink:Disease	mondo	SCTID:270494003		kidney papillary necrosis, acute|acute renal medullary necrosis|acute papillary necrosis|acute necrotizing papillitis|acute kidney papillary necrosis	http://purl.obolibrary.org/obo/MONDO_0041295	Acute form of kidney papillary necrosis.	SNOMEDCT:270494003
GO:0008395	steroid hydroxylase activity	biolink:OntologyClass	mondo			cytochrome P450 CYP2G1|olfactory-specific steroid hydroxylase activity	http://purl.obolibrary.org/obo/GO_0008395	Catalysis of the formation of a hydroxyl group on a steroid by incorporation of oxygen from O2.	
MONDO:0100108	TPM3-related myopathy	biolink:Disease	mondo			TPM3 myopathy|congenital myopathy related to TPM3|autosomal dominant TPM3-related myopathy	http://purl.obolibrary.org/obo/MONDO_0100108	TPM3-related myopathy is a disorder of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle γ-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, motor delay, myopathic facies, scoliosis, and sometimes respiratory involvement. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, fiber-type disproportion, and dystrophic features even in patients with the same mutation.	
ECTO:9001804	protein synthesis inhibitor exposure	biolink:OntologyClass	mondo			exposure to protein synthesis inhibitor	http://purl.obolibrary.org/obo/ECTO_9001804	An exposure to protein synthesis inhibitor.	
MONDO:0016276	high-grade neuroendocrine carcinoma of the cervix uteri	biolink:Disease	mondo	ICD10:C53.0|ICD10:C53.1|Orphanet:213777|ICD10:C53.8|UMLS:CN201066	ordo_disease	high-grade neuroendocrine carcinoma of the uterine cervix|poorly differentiated neuroendocrine cervical carcinoma|poorly differentiated neuroendocrine carcinoma of the cervix uteri	http://purl.obolibrary.org/obo/MONDO_0016276	High-grade neuroendocrine carcinoma of the cervix uteri is a rare, aggressive, primary cervical neoplasm, originating from neuroendocrine cells present in the lining epithelium of the cervix, characterized, macroscopically, by usually large lesions, sometimes with a barrel-shaped appearance. Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent.	UMLS:CN201066|ORPHA:213777
MONDO:0016277	malignant mixed epithelial and mesenchymal tumor of cervix uteri	biolink:Disease	mondo	Orphanet:213782|ICD10:C53.8|ICD10:C53.0|ICD10:C53.1|UMLS:CN201067	ordo_group_of_disorders	cervical malignant mixed epithelial and mesenchymal tumor|mixed epithelial and mesenchymal cancer of cervix uteri	http://purl.obolibrary.org/obo/MONDO_0016277		UMLS:CN201067|ORPHA:213782
MONDO:0016278	obsolete carcinosarcoma of the cervix uteri	biolink:Disease	mondo			uterine cervix carcinosarcoma	http://purl.obolibrary.org/obo/MONDO_0016278	Carcinosarcoma of the cervix uteri is a rare, malignant, mixed epithelial and mesenchymal tumor, located in the cervix uteri, composed of an admixture of carcinomatous and sarcomatous elements. It usually presents with abnormal vaginal bleeding and a round, well-defined, grey to yellowish-white, pedunculated polypoid mass protruding through the cervical canal. Association with HPV infection (especially serotype 16) has been frequently reported.	
MONDO:0016279	obsolete adenosarcoma of the cervix uteri	biolink:Disease	mondo			uterine cervix adenosarcoma	http://purl.obolibrary.org/obo/MONDO_0016279	Adenosarcoma of the cervix uteri is a rare subtype of malignant mixed epithelial and mesenchymal tumor composed of benign or mildly atypical glandular elements and a surrounding low-grade malignant stroma, often containing heterologous elements, such as areas of sex-cord-like or smooth muscle differentiation. It usually presents with vaginal bleeding or discharge, lower abdominal pain and/or a cervical mass or polyp. The tumor may arise from pre-existing endometriosis and patients may have a history of recurrent cervical polyps.	
MONDO:0016272	transitional cell carcinoma of the corpus uteri	biolink:Disease	mondo	ICD10:C54.1|Orphanet:213746	ordo_disease	body of uterus transitional cell carcinoma|endometrial transitional cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0016272	A transitional cell carcinoma that involves the body of uterus.	ORPHA:213746
MONDO:0016273	malignant germ cell tumor of corpus uteri	biolink:Disease	mondo	UMLS:CN201062|ICD10:C54.8|ICD10:C54.3|ICD10:C54.2|ICD10:C54.1|ICD10:C54.0|Orphanet:213751	ordo_disease	germ cell cancer of corpus uteri|germ cell cancer of the corpus uteri|body of uterus malignant germ cell tumor|malignant germ cell tumor of the corpus uteri	http://purl.obolibrary.org/obo/MONDO_0016273	A malignant germ cell tumor that involves the body of uterus.	UMLS:CN201062|ORPHA:213751
MONDO:0016274	obsolete rare cancer of cervix uteri	biolink:Disease	mondo	UMLS:CN201063|Orphanet:213761	obsoletion_candidate|ordo_group_of_disorders	rare cervical malignant tumor|rare malignant tumor of cervix uteri|rare cervical cancer	http://purl.obolibrary.org/obo/MONDO_0016274	Rare cervical cancer.	UMLS:CN201063|ORPHA:213761
MONDO:0016275	adenocarcinoma of cervix uteri	biolink:Disease	mondo	Orphanet:213772|ICD10:C53.8|ICD10:C53.0|ICD10:C53.1	ordo_disease	cervical adenocarcinoma|uterine cervix adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0016275	A adenocarcinoma that involves the uterine cervix.	ORPHA:213772
MONDO:0100120	vector-borne disease	biolink:Disease	mondo	https://orcid.org/0000-0002-2825-0621		vector-borne infection|vector-borne infectious disease	http://purl.obolibrary.org/obo/MONDO_0100120	An infectious disease where a pathogen is carried and transmitted by another organism that acts as disease vector.	
MONDO:0100121	SCN4A-related myopathy, autosomal recessive	biolink:Disease	mondo	https://www.clinicalgenome.org/affiliation/40061/		congenital myopathy with "corona" fibers, selective muscle atrophy, and craniosynostosis|myopathy with ptosis and mild dystrophic pattern|congenital myopathy with severe fetal hypokinesia	http://purl.obolibrary.org/obo/MONDO_0100121	Any congenital myopathy in which the cause of the disease is a mutation in the SCN4A gene. It include is a spectrum of autosomal recessive disorders including congenital myasthenic syndrome, fetal hypokinesia, and congenital myopathy.	
MONDO:0100124	NAA10-related syndrome	biolink:Disease	mondo			NAA10 X-linked syndromic intellectual disability|X-linked syndromic intellectual disability caused by mutation in NAA10	http://purl.obolibrary.org/obo/MONDO_0100124	NAA10-related syndrome is an X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the NAA10 gene. Patients with variants in the NAA10 gene demonstrate symptoms such as developmental delay, intellectual disability, autism spectrum disorder, hypotonia, facial dysmorphism, cardiac anomalies, and/or skeletal anomalies.	
GO:0008366	axon ensheathment	biolink:OntologyClass	mondo			nerve ensheathment|cellular nerve ensheathment|cellular axon ensheathment	http://purl.obolibrary.org/obo/GO_0008366	Any process in which the axon of a neuron is insulated, and that insulation maintained, thereby preventing dispersion of the electrical signal.	
MONDO:0043885	eye infectious disease	biolink:Disease	mondo	UMLS:C0015403|SCTID:128351009|NCIT:C45372|MESH:D015817		infection, eye|ocular infections|infection, ocular|infections, ocular|eye infection|ocular infection|infections, eye	http://purl.obolibrary.org/obo/MONDO_0043885	An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma.	UMLS:C0015403|MESH:D015817|SNOMEDCT:128351009|NCIT:C45372
MONDO:0100125	hallucinogen-persisting perception disorder	biolink:Disease	mondo	ICD10:F16.183		hallucinogen abuse with hallucinogen persisting perception disorder	http://purl.obolibrary.org/obo/MONDO_0100125	A perceptual disorder caused by intoxication with hallucinogen drugs, especially LSD. It is characterized by the recurrence of perceptive disturbances that first develop during intoxication. The contents of the perception and visual imagery range extensively and symptoms may include visual disturbances, hallucinations, and psychoses.	
MONDO:0100126	P5CS deficiency	biolink:Disease	mondo			delta1-pyrroline-5-carboxylate synthetase deficiency	http://purl.obolibrary.org/obo/MONDO_0100126	An inborn error of proline/orinthine metabolism that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene. These variants lead to a variety of neurocutaneous and motor syndromes characterized by cutis laxa, connective tissue weakness, facial dysmorphism, growth restriction, developmental delay, cataracts, hypotonia, hypertonia, and amyotrophy.	
MONDO:0100128	coinfection	biolink:Disease	mondo	UMLS:C0275524			http://purl.obolibrary.org/obo/MONDO_0100128	The simultaneous infection of a host by multiple pathogen species.	UMLS:C0275524
HGNC:28596	B3GALNT2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28596		
MONDO:0100129	intracranial arachoid cyst	biolink:Disease	mondo	OMIM:207790		arachnoid cysts, intracranial|intracranial arachnoid cysts	http://purl.obolibrary.org/obo/MONDO_0100129	A cystic malformation that is characterized by extraparenchymal, nonneoplastic accumulations of fluid with density similar to that of cerebrospinal fluid.	http://identifiers.org/omim/207790
MONDO:0043881	obsolete acute eosinophilic leukemia	biolink:Disease	mondo	MESH:D015472|SCTID:277604002|UMLS:C0023439|NCIT:C26813|EFO:1001888		leukemias, acute eosinophilic|eosinophilic leukemia, acute|eosinophilic leukemias, acute|acute eosinophilic leukemias|leukemia, acute eosinophilic|acute eosinophilic leukemia	http://purl.obolibrary.org/obo/MONDO_0043881	A poorly defined concept which at best is described as an extremely rare entity, possibly related to various subtypes of acute myeloid leukemia with abnormal eosinophils. (WHO, 2001)	MESH:D015472|SNOMEDCT:277604002|UMLS:C0023439|NCIT:C26813
MONDO:0043878	hereditary optic atrophy	biolink:Disease	mondo	MESH:D015418|NCIT:C34864|UMLS:C0029125|SCTID:26360005		atrophy, hereditary optic|optic atrophy, hereditary|hereditary optic atrophy|Atrophies, hereditary optic|hereditary optic Atrophies	http://purl.obolibrary.org/obo/MONDO_0043878	A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve.	UMLS:C0029125|MESH:D015418|SNOMEDCT:26360005|NCIT:C34864
MONDO:0100130	adult acute respiratory distress syndrome	biolink:Disease	mondo	UMLS:C0035222|DOID:11394|Orphanet:70578|SCTID:67782005|MESH:D012128	ordo_disease	adult RDS|respiratory distress syndrome, adult|ARDS|adult ARDS|adult acute respiratory distress syndrome|adult respiratory distress syndrome, ARDS|adult respiratory distress syndrome	http://purl.obolibrary.org/obo/MONDO_0100130	A very severe form of acute pulmonary failure secondary to capillary permeability impairment. The symptoms include dyspnea, hypotension and multivisceral failure. The disease is characterized by bilateral pulmonary infiltrates and severe hypoxemia due to increased alveolar-capillary permeability. The severity depends on the degree of alveolar epithelial injury, with a mortality rate of 30-50%.	MESH:D012128|SNOMEDCT:67782005|UMLS:C0035222|ORPHA:70578|DOID:11394
MONDO:0100131	pediatric acute respiratory distress syndrome	biolink:Disease	mondo			PARDS	http://purl.obolibrary.org/obo/MONDO_0100131	Acute respiratory distress syndromet that occurs in pediatric patients and includes findings of new infiltrates (unilateral or bilateral) consistent with acute parenchymal disease, edema not fully explained by fluid overload or cardiac failure, and may present as new acute lung disease in setting of chronic lung disease and/or heart disease, and perinatal lung disease is excluded.	
MONDO:0100132	intrahepatic bile duct adenosquamous carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100132	An adenosquamous carcinoma that arises from the intrahepatic bile ducts.	
MONDO:0043895	ankle injury	biolink:Disease	mondo	EFO:1001832|MESH:D016512|SCTID:125603006		Injuries, ankle|injury, ankle|tarsal region injury|ankle sprain|ankle Sprains|Injuries, syndesmotic|injury, syndesmotic|injury of tarsal region|ankle injury|syndesmotic injury|syndesmotic Injuries|sprain, ankle|injury of ankle|Sprains, ankle	http://purl.obolibrary.org/obo/MONDO_0043895	Harm or hurt to the ankle or ankle joint usually inflicted by an external source.	SNOMEDCT:125603006|MESH:D016512
MONDO:0100133	mitochondrial complex I deficiency	biolink:Disease	mondo	Orphanet:2609|GARD:0003908|MESH:C537475|DOID:0060536|UMLS:C2936907	ordo_disease|gard_rare	isolated NADH-CoQ reductase deficiency|isolated complex I deficiency|NADH coenzyme Q reductase deficiency|isolated mitochondrial respiratory chain complex I deficiency|isolated NADH-coenzyme Q reductase deficiency|complex 1 mitochondrial respiratory chain deficiency|isolated NADH-ubiquinone reductase deficiency	http://purl.obolibrary.org/obo/MONDO_0100133	A type of mitochondrial disease charcterized by macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene.	DOID:0060536|ORPHA:2609|MESH:C537475|UMLS:C2936907
MONDO:0100134	mitochondrial complex I deficiency, mitochondrial type	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100134		
MONDO:0100135	Dravet syndrome	biolink:Disease	mondo	SCTID:230437002|UMLS:C0751122|DOID:0060171|GARD:0010430|NCIT:C116573|ICD9:345.10	gard_rare	Dravet syndrome|myoclonic epilepsy, severe, of infancy|DS|SME	http://purl.obolibrary.org/obo/MONDO_0100135	Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A.	NCIT:C116573|UMLS:C0751122|SNOMEDCT:230437002|DOID:0060171
MONDO:0100136	obsolete Fanconia anemia complementation group M	biolink:Disease	mondo			Fanconi anemia caused by mutation in FANCM|FANCM Fanconi anemia	http://purl.obolibrary.org/obo/MONDO_0100136	OBSOLETE Any Fanconi anemia in which the cause of the disease is a mutation in the FANCM gene.	
MONDO:0100137	telomere syndrome	biolink:Disease	mondo			short telomere syndrome|STS	http://purl.obolibrary.org/obo/MONDO_0100137	Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths.	
MONDO:0100138	X-linked recessive mitochondrial myopathy	biolink:Disease	mondo			X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features	http://purl.obolibrary.org/obo/MONDO_0100138	A mitochondrial myopathy caused by defects in the MICOS subunit gene APOO (MIC26). Modelling in yeast and flies demonstrate an inability to insert MICOS complex into the inner mitohondrial membrane. Associated symptoms include, lactic acidosis, cognitive impairment and autistic features.	
MONDO:0100139	asymptomatic COVID-19 infection	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100139	A COVID-19 infection where individuals test positive for SARS-CoV-2 but have no symptoms across the entire course of the disease.	
GO:0008374	O-acyltransferase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0008374	Catalysis of the transfer of an acyl group to an oxygen atom on the acceptor molecule.	
MONDO:0043892	prosthesis-related infectious disease	biolink:Disease	mondo	MESH:D016459|EFO:1002021|NCIT:C79705		prosthesis-related infection|infections, prosthesis-related|prosthesis related infections|device related infection	http://purl.obolibrary.org/obo/MONDO_0043892	A bacterial infection related to a device used to replace a missing body part. The infection may occur during the operation from direct contamination or post-operatively through hematogenous spread.	MESH:D016459|NCIT:C79705
GO:0008373	sialyltransferase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0008373	Catalysis of the transfer of sialic acid to an acceptor molecule, typically the terminal portions of the sialylated glycolipids (gangliosides) or to the N- or O-linked sugar chains of glycoproteins.	
GO:0008380	RNA splicing	biolink:OntologyClass	mondo			pre-mRNA splicing factor activity	http://purl.obolibrary.org/obo/GO_0008380	The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA.	
MONDO:0100140	mild COVID-19 infection	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100140	A COVID-19 infection that presents with various signs and symptoms (e.g., fever, cough, sore throat, malaise, headache, muscle pain) without shortness of breath, dyspnea, or abnormal imaging.	
MONDO:0100141	moderate COVID-19 infection	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100141	A COVID-19 infection where individuals who have evidence of lower respiratory disease by clinical assessment or imaging and a saturation of oxygen (SpO2) >93% on room air at sea level.	
MONDO:0100142	severe COVID-19 infection	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100142	A COVID-19 infection where individuals have respiratory frequency >30 breaths per minute, SpO2 ≤93% on room air at sea level, ratio of arterial partial pressure of oxygen to fraction of inspired oxygen (PaO2/FiO2) <300, or lung infiltrates >50%.	
GO:0008348	negative regulation of antimicrobial humoral response	biolink:OntologyClass	mondo			attenuation of antimicrobial humoral response|down regulation of antimicrobial humoral response|inhibition of antimicrobial humoral response|down-regulation of antimicrobial humoral response|downregulation of antimicrobial humoral response	http://purl.obolibrary.org/obo/GO_0008348	Any process that stops, prevents, or reduces the frequency, rate, or extent of an antimicrobial humoral response.	
MONDO:0100143	critical COVID-19 infection	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100143	A COVID-19 infection that involves respiratory failure, septic shock, and/or multiple organ dysfunction.	
MONDO:0100144	Uner Tan Syndrome	biolink:Disease	mondo			recessive quadrupedalism	http://purl.obolibrary.org/obo/MONDO_0100144	A tubulinopathy with material basis in TUBB2B that is characterized by variations in R390Q, quadrupedal locomotion, cerebellar hypoplasia and does not have basal ganglia malformations.	
MONDO:0100145	presymptomatic COVID-19 infection	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100145	A COVID-19 infection where individuals test positive for SARS-CoV-2 but have no symptoms when they first test positive, but develop symptoms later on.	
MONDO:0100146	ATP6AP2-related disorder	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100146	Variants in the gene ATP6AP2 have been associated with a multitude of diseases, including X-linked syndromic ID Hedera type, X-linked parkinsonism-spasticity syndrome, and congenital disorder of glycosylation type 2R. Phenotypes include global developmental delay, intellectual disability, progressive neurologic decline, spasticity, seizures, infantile onset of liver failure, recurrent infections, dysmorphic features, and features of parkinsonism (rigidity, resting tremor, bradykinesia). These phenotypes do not appear in all individuals with one of the above disease assertions, but many are overlapping phenotypes.	
MONDO:0100147	SATB2 associated disorder	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100147	A syndromic intellectual disability disorder that is characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Most distinctive features are neurodevelopmental with invariably severely limited speech, cleft or high arched palate, dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies.	
MONDO:0100148	X-linked complex neurodevelopmental disorder	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100148	A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy.	
HGNC:28570	DNAAF6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28570		
CHEBI:141668	L-tyrosinal(1+)	biolink:ChemicalSubstance	mondo			L-tyrosinal|(2S)-1-(4-hydroxyphenyl)-3-oxopropan-2-aminium|(2S)-1-(p-hydroxyphenyl)-3-oxopropan-2-aminium	http://purl.obolibrary.org/obo/CHEBI_141668	A primary ammonium ion resulting from the protonation of the amino group of L-tyrosinal.	
MONDO:0100150	RYR1-related myopathy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100150		
MONDO:0100151	nephropathic cystinosis	biolink:Disease	mondo	UMLS:C2930877|OMIM:219800|NCIT:C129932|MESH:C535335		Abderhalden-Kaufmann-Lignac syndrome|CTNS|cystinosis, nephropathic; CTNS|cystinosis, nephropathic|Abderhalden Lignac Kaufmann disease|Abderhalden Kaufmann Lignac syndrome|Abderhalden-Lignac-Kaufmann disease	http://purl.obolibrary.org/obo/MONDO_0100151	An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction.	UMLS:C2930877|NCIT:C129932|MESH:C535335|http://identifiers.org/omim/219800
MONDO:0100152	DKC1-related disorder	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100152	Any dyskeratosis congenita in which the cause of the disease is a mutation in the DKC1 gene.	
MONDO:0100156	Imerslund-Grasbeck syndrome type 1	biolink:Disease	mondo	OMIM:261100|NCIT:C131677		enterocyte intrinsic factor receptor, defect of|megaloblastic anemia, 1; MGA1|megaloblastic Anemia type 1|Mga1|pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria|MGA-1|enterocyte cobalamin malabsorption|megaloblastic anemia, Finnish type	http://purl.obolibrary.org/obo/MONDO_0100156	An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances.	http://identifiers.org/omim/261100|NCIT:C131677
MONDO:0100157	Imerslund-Grasbeck syndrome type 2	biolink:Disease	mondo	OMIM:618882		megaloblastic anemia, Norwegian type	http://purl.obolibrary.org/obo/MONDO_0100157	An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF).	http://identifiers.org/omim/618882
CHEBI:138015	endocrine disruptor	biolink:ChemicalSubstance	mondo			endocrine disrupting compound|endocrine disrupting compounds|endocrine-disrupting chemical|endocrine disrupting chemical|hormonally active agent|endocrine disrupting chemicals|hormonally active agents|endocrine-disrupting chemicals|endocrine disruptors	http://purl.obolibrary.org/obo/CHEBI_138015	Any compound that can disrupt the functions of the endocrine (hormone) system	
HGNC:26019	BPNT2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26019		
HGNC:16691	TUBGCP4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16691		
MONDO:0004357	carcinoma of supraglottis	biolink:Disease	mondo	NCIT:C5973|SCTID:372105009|UMLS:C1299240|DOID:7763		carcinoma of the supraglottis|supraglottic cancer|supraglottis carcinoma|carcinoma of supraglottic part of larynx|supraglottic part of larynx carcinoma|supraglottic throat cancer|supraglottic carcinoma|cancer of supraglottis|cancer of the supraglottis|carcinoma of supraglottis	http://purl.obolibrary.org/obo/MONDO_0004357	A carcinoma of the larynx that arises from the supraglottic area.	NCIT:C5973|DOID:7763|SNOMEDCT:372105009|UMLS:C1299240
CHEBI:22501	aminodiol	biolink:ChemicalSubstance	mondo			amino diol|aminodiols|amino diols	http://purl.obolibrary.org/obo/CHEBI_22501	An amino alcohol having two hydroxy functional groups.	
MONDO:0004356	childhood multilocular cystic kidney neoplasm	biolink:Disease	mondo	UMLS:C1332983|NCIT:C6566|DOID:7762		pediatric multilocular cystic kidney neoplasm|pediatric multilocular cystic kidney tumor|childhood multilocular cystic renal neoplasm|childhood multilocular cystic kidney neoplasm|childhood multilocular cystic kidney tumor|pediatric multilocular cystic renal neoplasm|childhood multilocular cystic renal tumor|pediatric multilocular cystic renal tumor|benign multilocular cystic renal tumor	http://purl.obolibrary.org/obo/MONDO_0004356	A cystic neoplasm which arises from the kidney and occurs in children. It includes the cystic partially differentiated nephroblastoma and cases in which nephroblastomatous elements are not present.	DOID:7762|UMLS:C1332983|NCIT:C6566
MONDO:0004359	delusional disorder	biolink:Disease	mondo	COHD:432590|ICD10:F22|ICD10:F22.0|NCIT:C94379|DOID:778|SCTID:48500005|ICD9:297.1			http://purl.obolibrary.org/obo/MONDO_0004359	A disorder characterized by the presence of one or more nonbizarre delusions that persist for at least 1 month; the delusion(s) are not due to schizophrenia or a mood disorder, and do not impair psychosocial functioning apart from the ramifications of the delusion(s).	SNOMEDCT:48500005|NCIT:C94379|DOID:778
MONDO:0004358	subglottis carcinoma	biolink:Disease	mondo	UMLS:C1299239|NCIT:C5972|SCTID:372104008|DOID:7764		carcinoma of the subglottis|carcinoma of subglottis|subglottis carcinoma|subglottic throat cancer|cancer of subglottis|cancer of the subglottis|subglottic cancer|subglottic carcinoma	http://purl.obolibrary.org/obo/MONDO_0004358	A carcinoma of the larynx that arises from the subglottic area.	NCIT:C5972|DOID:7764|SNOMEDCT:372104008|UMLS:C1299239
MONDO:0004353	extrahepatic biliary papillomatosis	biolink:Disease	mondo	UMLS:C1333511|NCIT:C7124|DOID:7752		extrahepatic bile duct papillary neoplasm|extrahepatic bile duct papillomatosis|extrahepatic biliary papillomatosis	http://purl.obolibrary.org/obo/MONDO_0004353	A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the extrahepatic bile ducts.	DOID:7752|UMLS:C1333511|NCIT:C7124
MONDO:0004352	adult brain ependymoma	biolink:Disease	mondo	UMLS:C1332186|DOID:7750|NCIT:C9372		adult brain ependymoma|brain ependymoma	http://purl.obolibrary.org/obo/MONDO_0004352	An ependymoma of the brain occurring in adults.	DOID:7750|UMLS:C1332186|NCIT:C9372
MONDO:0004355	childhood leukemia	biolink:Disease	mondo	DOID:7757|NCIT:C4989|UMLS:C1332977		pediatric leukemia (disease)|leukemia|leukemia (disease) of childhood|childhood leukemia (disease)|childhood leukemia|pediatric leukemia (disease)	http://purl.obolibrary.org/obo/MONDO_0004355	An acute or chronic leukemia that occurs during childhood.	NCIT:C4989|DOID:7757|UMLS:C1332977
MONDO:0004354	neonatal leukemia	biolink:Disease	mondo	DOID:7756|NCIT:C3845|UMLS:C0235813		neonatal leukemia	http://purl.obolibrary.org/obo/MONDO_0004354	Leukemia that occurs during the neonatal period.	NCIT:C3845|DOID:7756|UMLS:C0235813
MONDO:0004351	intraocular lymphoma	biolink:Disease	mondo	ICD10:C85,7|SCTID:420788006|ICD9:200.50|DOID:775|MESH:D064090|NCIT:C9184|Orphanet:279904	ordo_disease	primary intraocular non-Hodgkin's lymphoma|primary intraocular lymphoma|PIOL|intraocular lymphoma	http://purl.obolibrary.org/obo/MONDO_0004351	A lymphoma that arises within the eye. Signs and symptoms include decreased vision, uveitis, and vitreous floaters.	NCIT:C9184|DOID:775|MESH:D064090|ORPHA:279904|SNOMEDCT:420788006
MONDO:0004350	pediatric extraocular retinoblastoma	biolink:Disease	mondo	DOID:7747|UMLS:C1321870|NCIT:C9048		pediatric extraocular retinoblastoma|childhood extraocular retinoblastoma|childhood metastatic retinoblastoma|extraocular retinoblastoma|extraocular retinoblastoma of childhood	http://purl.obolibrary.org/obo/MONDO_0004350	Retinoblastoma during childhood that has spread beyond the eye.	DOID:7747|UMLS:C1321870|NCIT:C9048
HGNC:26013	DNAAF5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26013		
HP:0005406	Recurrent bacterial skin infections	biolink:PhenotypicFeature	mondo	UMLS:C1835686		Recurrent episodes of infectious dermatitis|Recurrent cutaneous pyogenic infections|Recurrent bacterial skin infections|Recurrent episodes of impetigo|Recurrent pyogenic skin infections	http://purl.obolibrary.org/obo/HP_0005406	Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis.	
MONDO:0043959	pseudolymphoma	biolink:Disease	mondo	SCTID:19750001|MESH:D019310|NCIT:C3825|EFO:1001414|UMLS:C0221269		lymphocytomas|hyperplasias, reactive lymphoid|hyperplasia, reactive lymphoid|lymphoid hyperplasia, reactive|pseudolymphoma|benign lymphoid hyperplasia|lymphocytoma|lymphoid Hyperplasias, reactive|reactive lymphoid hyperplasia|pseudolymphomas|reactive lymphoid Hyperplasias	http://purl.obolibrary.org/obo/MONDO_0043959	A neoplastic process that resembles a malignant lymphoma, but has a benign course.	MESH:D019310|SNOMEDCT:19750001|UMLS:C0221269|NCIT:C3825
MONDO:0016346	hydrocephalus-obesity-hypogonadism syndrome	biolink:Disease	mondo	GARD:0002775|SCTID:721231007|UMLS:CN201182|Orphanet:2183	ordo_malformation_syndrome	congenital hydrocephalus oligophrenia dwarfism centripetal obesity and hypogonadism|hydrocephalus obesity hypogonadism|Sengers-Hamel-Otten syndrome	http://purl.obolibrary.org/obo/MONDO_0016346	This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature.	ORPHA:2183|UMLS:CN201182|SNOMEDCT:721231007
MONDO:0016347	obsolete rare cardiac rhythm disease	biolink:Disease	mondo	UMLS:CN201185|Orphanet:218436	obsoletion_candidate|ordo_group_of_disorders	rare cardiac rhythm disease	http://purl.obolibrary.org/obo/MONDO_0016347	A rare form of cardiac rhythm disease.	UMLS:CN201185|ORPHA:218436
MONDO:0043953	burkholderia infectious disease	biolink:Disease	mondo	SCTID:721736003|MESH:D019121|EFO:1001280		Burkholderia disease or disorder|Burkholderia infectious disease|burkholderia infectious disease|infection, Burkholderia|Burkholderia caused disease or disorder|infections, Burkholderia|Burkholderia infection|infection caused by Burkholderia	http://purl.obolibrary.org/obo/MONDO_0043953	Infections with bacteria of the genus Burkholderia.	MESH:D019121|SNOMEDCT:721736003
MONDO:0016348	non-genetic cardiac rhythm disease	biolink:Disease	mondo	Orphanet:218439|UMLS:CN201186	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016348		UMLS:CN201186|ORPHA:218439
MONDO:0016349	congenital hydrocephalus	biolink:Disease	mondo	COHD:438244|ICD10:Q03.9|OMIMPS:236600|ICD10:Q03.8|MedDRA:10010506|ICD10:Q03|UMLS:C0020256|SCTID:47032000|NCIT:C98876|ICD10:Q03.1|Orphanet:2185|ICD10:Q03.0	ordo_malformation_syndrome	congenital hydrocephalus|HYC3	http://purl.obolibrary.org/obo/MONDO_0016349	Hydrocephalus that is present at birth.	UMLS:C0020256|ORPHA:2185|MEDDRA:10010506|SNOMEDCT:47032000|NCIT:C98876
MONDO:0016342	familial isolated arrhythmogenic right ventricular dysplasia	biolink:Disease	mondo	UMLS:C4274968|Orphanet:217656|OMIMPS:107970|SCTID:715865008|UMLS:CN226907|ICD10:I42.8	ordo_disease	familial isolated arrhythmogenic right ventricular cardiomyopathy|familial isolated ARVC|familial isolated arrhythmogenic ventricular cardiomyopathy|familial isolated arrhythmogenic ventricular dysplasia|familial isolated ARVD	http://purl.obolibrary.org/obo/MONDO_0016342	Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms.	UMLS:C4274968|UMLS:CN226907|ORPHA:217656|SNOMEDCT:715865008
MONDO:0016343	unclassified cardiomyopathy	biolink:Disease	mondo	Orphanet:217678	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016343		ORPHA:217678
MONDO:0016344	hydranencephaly (disease)	biolink:Disease	mondo	DOID:4626|UMLS:C0020225|MESH:D006832|SCTID:30023002|Orphanet:2177|HP:0002324|GARD:0006681|NCIT:C98949|ICD10:Q04.3	ordo_malformation_syndrome	Hydroanencephaly|hydranencephaly	http://purl.obolibrary.org/obo/MONDO_0016344	A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor.	ORPHA:2177|SNOMEDCT:30023002|DOID:4626|MESH:D006832|NCIT:C98949|UMLS:C0020225
MONDO:0016345	non-familial restrictive cardiomyopathy	biolink:Disease	mondo	EFO:1001473|UMLS:CN226908|Orphanet:217720	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016345		UMLS:CN226908|ORPHA:217720
GO:0070278	extracellular matrix constituent secretion	biolink:OntologyClass	mondo			ECM constituent secretion|ECM secretion	http://purl.obolibrary.org/obo/GO_0070278	The controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell.	
HGNC:16692	CD320	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16692		
MONDO:0016340	familial restrictive cardiomyopathy	biolink:Disease	mondo	SCTID:233878008|OMIMPS:115210|Orphanet:217635|ICD9:425.4	ordo_group_of_disorders	hereditary restrictive cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0016340	An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome.	SNOMEDCT:233878008|UMLS:C0340429|ORPHA:217635
HGNC:16695	BCAP31	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16695		
MONDO:0016341	lysosomal disease with restrictive cardiomyopathy	biolink:Disease	mondo	Orphanet:217638|UMLS:CN201171	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016341		UMLS:CN201171|ORPHA:217638
MONDO:0004368	sphenoorbital meningioma	biolink:Disease	mondo	UMLS:C1336040|NCIT:C5285|DOID:7819			http://purl.obolibrary.org/obo/MONDO_0004368	A meningioma that affects the sphenoorbital region.	DOID:7819|UMLS:C1336040|NCIT:C5285
MONDO:0004367	petroclival meningioma	biolink:Disease	mondo	UMLS:C1335395|NCIT:C5278|DOID:7818			http://purl.obolibrary.org/obo/MONDO_0004367	A meningioma that affects the petroclival region.	DOID:7818|NCIT:C5278|UMLS:C1335395
MONDO:0004369	renal infectious disease	biolink:Disease	mondo	ICD9:590|ICD10:N15.9|ICD9:590.9|DOID:782			http://purl.obolibrary.org/obo/MONDO_0004369		DOID:782
MONDO:0004364	choroid necrotic melanoma	biolink:Disease	mondo	NCIT:C6865|DOID:7807|UMLS:C1333026		necrotic melanoma of choroid|necrotic choroid melanoma|choroid necrotic melanoma|necrotic melanoma of the choroid	http://purl.obolibrary.org/obo/MONDO_0004364		DOID:7807|NCIT:C6865|UMLS:C1333026
MONDO:0004363	adult spinal cord glioblastoma	biolink:Disease	mondo	NCIT:C27183|SCTID:276829003|DOID:7806|UMLS:C0559185		adult spinal cord glioblastoma|glioblastoma multiforme of spinal cord|adult spinal cord glioblastoma multiforme	http://purl.obolibrary.org/obo/MONDO_0004363	A rare spinal tumor which is highly malignant and tends to be locally invasive of surrounding neural tissue. The tumor also tends to spread throughout the neuroaxis and is often rapidly progressive. Histologically the tumors are highly cellular with nuclear and cellular pleomorphism, endothelial proliferation, mitotic figures, and, often, necrosis. This tumor has a relatively poor prognosis. Clinical features may include pain followed by rapidly progressive neurologic deficits such as extremity weakness, sensory changes, spasticity, and incontinence. (From Innocenzi et al., Clin Neurol Neurosurg 1997 Feb;99(1):1-5)	DOID:7806|NCIT:C27183|UMLS:C0559185|SNOMEDCT:276829003
HGNC:26022	TRMT10C	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26022		
MONDO:0004366	mixed astrocytoma-ependymoma-oligodendroglioma	biolink:Disease	mondo	DOID:7817|UMLS:C0280792|NCIT:C8272		mixed astrocytoma-ependymoma-oligodendroglioma	http://purl.obolibrary.org/obo/MONDO_0004366	A mixed glioma characterized by the presence of astrocytic, ependymal, and oligodendroglial neoplastic components.	DOID:7817|NCIT:C8272|UMLS:C0280792
MONDO:0004365	necrotic uveal melanoma	biolink:Disease	mondo	UMLS:C1334931|NCIT:C7990|DOID:7808			http://purl.obolibrary.org/obo/MONDO_0004365	A uveal melanoma characterized by the presence of tumor cell necrosis.	UMLS:C1334931|DOID:7808|NCIT:C7990
MONDO:0004360	breast extraskeletal osteosarcoma	biolink:Disease	mondo	UMLS:C1335149|DOID:7787|NCIT:C5189		osteogenic sarcoma of breast|breast extraskeletal osteosarcoma|osteogenic breast sarcoma|osteosarcoma of breast|osteosarcoma of the breast|breast osteosarcoma|breast osteosarcoma (disease)|osteogenic sarcoma of the breast	http://purl.obolibrary.org/obo/MONDO_0004360	An osteosarcoma arising from the breast tissue.	NCIT:C5189|UMLS:C1335149|DOID:7787
MONDO:0004362	obsolete placenta disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004362		
MONDO:0004361	adult spinal cord ependymoma	biolink:Disease	mondo	DOID:7788|UMLS:C1332215|NCIT:C27399		adult spinal cord ependymoma|spinal cord ependymoma of adults|spinal cord ependymoma	http://purl.obolibrary.org/obo/MONDO_0004361	An ependymoma of the spinal cord occurring in adults.	UMLS:C1332215|NCIT:C27399|DOID:7788
MONDO:0043969	nocturnal paroxysmal dystonia	biolink:Disease	mondo	EFO:1001772|MESH:D020183|SCTID:230500006|UMLS:C0393777		dystonia, hypnogenic paroxysmal|sleep-related dystonia|paroxysmal dystonias, hypnogenic|paroxysmal dystonia, hypnogenic|dystonia, sleep-related|dystonias, nocturnal paroxysmal|hypnogenic paroxysmal dystonia|dystonia, nocturnal, paroxysmal|nocturnal paroxysmal dystonias|sleep-related dystonia|dystonias, hypnogenic paroxysmal|hypnogenic paroxysmal dystonias|paroxysmal dystonia, nocturnal|paroxysmal dystonias, nocturnal|dystonias, sleep-related|sleep-related dystonias|sleep related dystonia|dystonia, nocturnal paroxysmal	http://purl.obolibrary.org/obo/MONDO_0043969	A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night. (Neurology 1992 Jul;42(7 Suppl 6):61-67; Adams et al., Principles of Neurology, 6th ed, p391)	SNOMEDCT:230500006|MESH:D020183|UMLS:C0393777
MONDO:0016339	obsolete restrictive cardiomyopathy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016339		
NCBITaxon:523089	Haemaphysalis concinna	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_523089		
MONDO:0018998	Leber congenital amaurosis	biolink:Disease	mondo	Orphanet:65|UMLS:C0339527|DOID:14791|OMIMPS:204000|MedDRA:10070667|ICD10:H35.5|SCTID:193413001|NCIT:C129075|MESH:D057130|GARD:0000634	ordo_disease	Leber's congenital tapetoretinal degeneration|congenital retinal blindness|amaurosis congenita of Leber|Leber's congenital amaurosis|congenital absence of the rods and cones|Leber's disease|Leber's congenital tapetoretinal dysplasia|Leber's amaurosis|LCA	http://purl.obolibrary.org/obo/MONDO_0018998	Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.	MESH:D057130|MEDDRA:10070667|NCIT:C129075|UMLS:C0339527|DOID:14791|SNOMEDCT:193413001|ORPHA:65
MONDO:0016335	mitochondrial disease with dilated cardiomyopathy	biolink:Disease	mondo	UMLS:CN201166|Orphanet:217613	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016335		ORPHA:217613|UMLS:CN201166
MONDO:0018997	Noonan syndrome	biolink:Disease	mondo	DOID:3490|MedDRA:10029748|NCIT:C34854|OMIMPS:163950|UMLS:C0028326|SCTID:205824006|Orphanet:648|MESH:D009634|ICD10:Q87.1|GARD:0010955|ICD9:759.89	clingen|ordo_malformation_syndrome	Turner's phenotype, karyotype normal|Noonan-Ehmke syndrome|pseudo-Ullrich-Turner syndrome|Noonan's syndrome|Noonan syndrome|Ullrich-Noonan syndrome	http://purl.obolibrary.org/obo/MONDO_0018997	Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.	UMLS:C0028326|MESH:D009634|ORPHA:648|NCIT:C34854|DOID:3490|MEDDRA:10029748|SNOMEDCT:205824006
MONDO:0016336	fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy	biolink:Disease	mondo	UMLS:CN226905|Orphanet:217616	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016336		ORPHA:217616|UMLS:CN226905
MONDO:0016337	syndrome associated with dilated cardiomyopathy	biolink:Disease	mondo	Orphanet:217619|UMLS:CN201167	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016337		ORPHA:217619|UMLS:CN201167
MONDO:0018999	LCAT deficiency	biolink:Disease	mondo	ICD10:E78.6|SCTID:49227001|Orphanet:650	ordo_disease	lecithin-cholesterol acyltransferase deficiency	http://purl.obolibrary.org/obo/MONDO_0018999	LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.	ORPHA:650|SNOMEDCT:49227001
MONDO:0016338	non-familial dilated cardiomyopathy	biolink:Disease	mondo	UMLS:CN226906|Orphanet:217629	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016338		ORPHA:217629|UMLS:CN226906
MONDO:0018994	Charcot-Marie-Tooth disease type X	biolink:Disease	mondo	GARD:0012444|SCTID:230552007|UMLS:CN205436|ICD9:356.9|DOID:0050542|ICD10:G60.0|Orphanet:64747	ordo_group_of_disorders	CMTX|COWCK|Cowchock syndrome|X-linked hereditary motor and sensory neuropathy|X-linked Charcot-Marie-Tooth disease	http://purl.obolibrary.org/obo/MONDO_0018994	A subtype of Charcot-Marie-Tooth disease with genetic defects on the X chromosome.	SNOMEDCT:230552007|DOID:0050542|UMLS:CN205436|ORPHA:64747
MONDO:0016331	infantile systemic hyalinosis	biolink:Disease	mondo	SCTID:238867003|Orphanet:2176|ICD10:E78.8	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016331	Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.	ORPHA:2176|SNOMEDCT:238867003
MONDO:0016332	hypertrophic cardiomyopathy due to intensive athletic training	biolink:Disease	mondo	ICD10:I42.2|Orphanet:217601|UMLS:CN226904	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016332		UMLS:CN226904|ORPHA:217601
MONDO:0018993	Charcot-Marie-Tooth disease type 2	biolink:Disease	mondo	GARD:0012431|ICD9:356.0|ICD10:G60.0|Orphanet:64746|SCTID:715665006|DOID:0050539	ordo_group_of_disorders	hereditary motor and sensory neuropathy Guadalajara neuronal type|hereditary motor and sensory neuropathy Okinawa type|autosomal dominant axonal Charcot-Marie-Tooth disease|Charcot-Marie-Tooth type 2|CMT2|autosomal dominant Charcot-Marie-Tooth disease type 2|hereditary motor and sensory neuropathy type 2	http://purl.obolibrary.org/obo/MONDO_0018993	A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.	SNOMEDCT:715665006|DOID:0050539|ORPHA:64746
MONDO:0018996	spinocerebellar ataxia with axonal neuropathy type 2	biolink:Disease	mondo	GARD:0012860|DOID:0050755|SCTID:725408001|Orphanet:64753|UMLS:CN205441|ICD10:G60.2	ordo_disease	SCAN2|SCAR1|scan 2|AOA2|ataxia-oculomotor apraxia type 2|autosomal recessive spinocerebellar ataxia-1|ataxia with oculomotor apraxia type 2	http://purl.obolibrary.org/obo/MONDO_0018996	Ataxia with oculomotor apraxia type 2 (AOA2) is a rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.	DOID:0050755|SNOMEDCT:725408001|UMLS:CN205441|ORPHA:64753
MONDO:0016333	familial dilated cardiomyopathy	biolink:Disease	mondo	Orphanet:217607|UMLS:C0340427|MESH:C536231|GARD:0000221|OMIMPS:115200|GARD:0002905|ICD10:I42.0	ordo_group_of_disorders	hereditary dilated cardiomyopathy|DCM|dilated cardiomyopathy, familial|idiopathic dilated cardiomyopathy|hypokinetic dilated cardiomyopathy, familial	http://purl.obolibrary.org/obo/MONDO_0016333	A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.	MESH:C536231|UMLS:C0340427|ORPHA:217607
MONDO:0018995	Charcot-Marie-Tooth disease type 4	biolink:Disease	mondo	ICD10:G60.0|GARD:0012440|DOID:0050541|SCTID:715795005|Orphanet:64749|UMLS:CN043578	ordo_group_of_disorders	CMT4|AR-CMT1|autosomal recessive demyelinating Charcot-Marie-Tooth|hereditary motor and sensory neuropathy	http://purl.obolibrary.org/obo/MONDO_0018995	Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.	DOID:0050541|UMLS:CN043578|SNOMEDCT:715795005|ORPHA:64749
MONDO:0016334	neuromuscular disease with dilated cardiomyopathy	biolink:Disease	mondo	UMLS:CN201165|Orphanet:217610	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016334		UMLS:CN201165|ORPHA:217610
HGNC:14048	MRPS16	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14048		
MONDO:0018990	obsolete pulmonary blastoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018990		
MONDO:0018992	IgG4-related thyroid disease	biolink:Disease	mondo	SCTID:89024000|Orphanet:64744|MedDRA:10039142|ICD10:E06.5	ordo_disease	Riedel thyroiditis|Riedel disease	http://purl.obolibrary.org/obo/MONDO_0018992	Riedel thyroiditis is a fibroinflammatory disorder of the thyroid gland, occuring more frequently in females, characterized a large, hard thyroid mass, and presenting with pressure symptoms (breathing difficulB,ties and dysphagia) or voice hoarseness and aphonia (impingement of recurrent laryngeal nerve). It can often be associated with extracervical fibroinflammatory disorders such as retroperitoneal fibrosis, primary scleroisng cholangitis and autoimmune diseases such as Hashimoto struma, Addison disease, and Biermer disease.	SNOMEDCT:89024000|UMLS:C0154162|MEDDRA:10039142|ORPHA:64744
MONDO:0018991	hepatoportal sclerosis	biolink:Disease	mondo	SCTID:718096004|ICD10:K74.1|UMLS:C4273756|Orphanet:64743	ordo_disease	obliterative portal venopathy	http://purl.obolibrary.org/obo/MONDO_0018991	Hepatoportal sclerosis (HPS) is a rare disorder characterized by sclerosis of the intrahepatic portal veins, non-cirrhotic portal hypertension, asymptomatic splenomegaly and recurrent variceal bleeding.	UMLS:C4273756|SNOMEDCT:718096004|ORPHA:64743
MONDO:0016330	non-familial hypertrophic cardiomyopathy	biolink:Disease	mondo	Orphanet:217598|UMLS:CN226903	ordo_group_of_disorders	acquired hypertrophic cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0016330	An instance of hypertrophic cardiomyopathy that is acquired during the lifetime of the individual.	UMLS:CN226903|ORPHA:217598
MONDO:0004339	tuberculum sellae meningioma	biolink:Disease	mondo	UMLS:C1336829|NCIT:C5284|DOID:7713		sella turcica neoplasm of tuberculum sellae|meningioma of the tuberculum sellae|meningioma of tuberculum sellae|tuberculum sellae sella turcica neoplasm	http://purl.obolibrary.org/obo/MONDO_0004339	A meningioma that affects the tuberculum sellae.	NCIT:C5284|UMLS:C1336829|DOID:7713
MONDO:0004338	retinal cell cancer	biolink:Disease	mondo	DOID:771		malignant neoplasm of retinal cell|cancer of retinal cell|retinal cell cancer|malignant retinal cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0004338		DOID:771
GO:0070293	renal absorption	biolink:OntologyClass	mondo			nephron absorption|renal reabsorption	http://purl.obolibrary.org/obo/GO_0070293	A renal system process in which water, ions, glucose and proteins are taken up from the collecting ducts, glomerulus and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures (e.g. protein absorption is observed in nephrocytes in Drosophila, see PMID:23264686).	
MONDO:0006998	tonsil cancer	biolink:Disease	mondo	ICD9:146.0|MESH:D014067|EFO:1001214|UMLS:C0751560|ICD10:C09.9|SCTID:363393007|MedDRA:10044002|ICD10:C09|COHD:4181339|NCIT:C7404|DOID:8858		malignant neoplasm of tonsil, faucial|malignant tonsillar neoplasm|cancer of tonsil|malignant neoplasm of faucial tonsil|malignant tumor of tonsil|malignant tumor of the tonsil|tonsil cancer|malignant tonsillar tumor|malignant neoplasm of tonsil|malignant tonsil neoplasm|malignant neoplasm of the tonsil|malignant tonsil tumor|malignant neoplasm of palatine tonsil	http://purl.obolibrary.org/obo/MONDO_0006998	A primary or metastatic malignant neoplasm that affects the tonsil.	DOID:8858|MESH:D014067|SNOMEDCT:363393007|UMLS:C0751560|NCIT:C7404
MONDO:0004335	digestive system disease	biolink:Disease	mondo	ICD9:520-579.99|SCTID:53619000|EFO:0000405|MESH:D005767|NCIT:C2990|COHD:4201745|DOID:77|ICD9:V47.3|ICD10:K92.9		gastroenterological system disorder|disease of digestive system|gastrointestinal disease|gastrointestinal system disease|gastrointestinal disorder|gastroenteropathy|digestive system disease or disorder|digestive system disease|stomach or intestinal disorder|gastroenterological system disease|digestive system disorder|disease or disorder of digestive system|alimentary system disease|disorder of digestive system|disorder of digestive system|git disease|digestive disease|gastrointestinal system disorder	http://purl.obolibrary.org/obo/MONDO_0004335	A disease or disorder that involves the digestive system.	MESH:D005767|DOID:77|NCIT:C2990|SNOMEDCT:53619000
MONDO:0004334	non-functional pancreatic neuroendocrine tumor	biolink:Disease	mondo	EFO:1000398|Orphanet:506075|MESH:C536126|ICDO:8150/3|NCIT:C45837|DOID:7698|UMLS:C1334977|GARD:0004002	ordo_disease|gard_rare	non-syndromic pancreatic neuroendocrine tumor|non functioning pancreatic endocrine tumor|non-functioning pancreatic endocrine tumor|inactive pancreatic endocrine tumor|non-syndromic pancreatic NET|non-functioning well differentiated pancreatic endocrine tumor|nonfunctional pancreatic NET|non-functioning well-differentiated NEN of pancreas|non-functioning neuroendocrine tumor of pancreas|non-functioning endocrine pancreatic tumors|nonsyndromic pancreatic endocrine tumor|non-functioning pancreatic NET|non-functioning well-differentiated neuroendocrine neoplasm of pancreas|non-functioning PNET|non-functional pancreatic neuroendocrine tumor|non-functioning well-differentiated pancreatic NEN|non-functioning EPTs|non-functioning well-differentiated pancreatic neuroendocrine neoplasm|non-functioning pancreatic neuroendocrine tumor|nonsyndromic pancreatic neuroendocrine tumor|nonfunctional pancreatic neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0004334	A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome.	DOID:7698|UMLS:C1334977|MESH:C536126|NCIT:C45837|ORPHA:506075
MONDO:0006999	tooth disease	biolink:Disease	mondo	MESH:D014076|EFO:1001216|UMLS:C0040435|SCTID:234947003|DOID:1091|NCIT:C35077		disease of calcareous tooth|disorder of calcareous tooth|disease or disorder of calcareous tooth|calcareous tooth disease|tooth disorder|calcareous tooth disease or disorder|disorder of calcareous tooth|dental disorder	http://purl.obolibrary.org/obo/MONDO_0006999	A disease involving the calcareous tooth.	MESH:D014076|NCIT:C35077|SNOMEDCT:234947003|UMLS:C0040435|DOID:1091
MONDO:0006996	thyroid crisis (disease)	biolink:Disease	mondo	DOID:12837|SCTID:29028009|UMLS:C0040127|NCIT:C112836|MESH:D013958|EFO:1001212|ICD9:242.81|ICD9:242.91|ICD10:E05.5|MedDRA:10043705|HP:0011782		thyroid storm|thyroid crisis|thyrotoxic crisis	http://purl.obolibrary.org/obo/MONDO_0006996	Acute onset of severe, life-threatening hyperthyroidism caused by a sudden release of excessive thyroid hormone.	NCIT:C112836|SNOMEDCT:29028009|MESH:D013958|UMLS:C0040127|DOID:12837
MONDO:0004337	perianal skin Paget disease	biolink:Disease	mondo	NCIT:C7476|DOID:7708|UMLS:C1332270		Paget disease of the anal margin|perianal skin Paget disease|perianal skin Paget's disease|anal margin Paget's disease|perianal skin mammary Paget's disease|Paget's disease of the anal margin	http://purl.obolibrary.org/obo/MONDO_0004337	Paget disease involving the perianal skin.	DOID:7708|UMLS:C1332270|NCIT:C7476
MONDO:0006997	tibial neuropathy	biolink:Disease	mondo	DOID:1187|EFO:1001213|SCTID:399076001|UMLS:C0751932|MESH:D020429		Posterior tibial neuropathy|tibial neuropathy (disorder) [ambiguous]	http://purl.obolibrary.org/obo/MONDO_0006997	Disease of the tibial nerve (also referred to as the posterior tibial nerve). The most commonly associated condition is the tarsal tunnel syndrome. However, leg injuries; ischemia; and inflammatory conditions (e.g., collagen diseases) may also affect the nerve. Clinical features include paralysis of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32)	MESH:D020429|SNOMEDCT:399076001|UMLS:C0751932|DOID:1187
MONDO:0004336	rectal signet ring cell adenocarcinoma	biolink:Disease	mondo	NCIT:C9168|DOID:7707|UMLS:C0279654		signet Ring cell adenocarcinoma of rectum|rectum signet ring cell carcinoma|signet Ring cell adenocarcinoma of the rectum|rectum signet ring adenocarcinoma|signet Ring adenocarcinoma of rectum|rectal signet Ring cell adenocarcinoma|signet Ring adenocarcinoma of the rectum	http://purl.obolibrary.org/obo/MONDO_0004336	An infiltrating adenocarcinoma arising from the rectum. It is characterized by the presence of malignant glandular cells with prominent intracytoplasmic mucin. These cells constitute more than 50% of the malignant cellular population.	DOID:7707|UMLS:C0279654|NCIT:C9168
MONDO:0004331	bladder urachal adenocarcinoma	biolink:Disease	mondo	DOID:7694|ONCOTREE:UA|UMLS:C1511204|NCIT:C39843|GARD:0010186|MESH:C536474	gard_rare	urachal adenocarcinoma|bladder urachal adenocarcinoma|adenocarcinoma of the urachus|urachus adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004331	A adenocarcinoma that involves the urachus.	NCIT:C39843|DOID:7694|MESH:C536474|UMLS:C1511204
MONDO:0006994	tarsal tunnel syndrome	biolink:Disease	mondo	COHD:192885|MedDRA:10043121|UMLS:C0039319|MESH:D013641|ICD9:355.5|NCIT:C85183|ICD10:G57.50|GARD:0007733|SCTID:47374004|DOID:12526|ICD10:G57.5|EFO:1001208	gard_rare	posterior tibial nerve neuralgia|neuropathy of the posterior tibial nerve and its branches	http://purl.obolibrary.org/obo/MONDO_0006994	Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve and cause the pain associated with tarsal tunnel syndrome.	UMLS:C0039319|MESH:D013641|DOID:12526|NCIT:C85183|SNOMEDCT:47374004
MONDO:0004330	leptomeningeal sarcoma	biolink:Disease	mondo	NCIT:C8312|DOID:7689|UMLS:C1384416		leptomeninx sarcoma|leptomeningeal sarcoma|sarcoma, leptomeningeal, malignant|sarcoma of the leptomeninges|sarcoma of leptomeninges|sarcoma, meningeal|leptomeninges sarcoma|sarcoma of leptomeninx	http://purl.obolibrary.org/obo/MONDO_0004330	A sarcoma arising from the leptomeninges.	DOID:7689|NCIT:C8312|UMLS:C1384416
MONDO:0043982	cubital tunnel syndrome	biolink:Disease	mondo	SCTID:56177003|MESH:D020430|EFO:1001363		syndrome, cubital tunnel|cubital tunnel syndromes|ulnar nerve compression, cubital tunnel|ulnar nerve entrapment, elbow|cubital tunnel syndrome|tunnel syndrome, cubital|tunnel syndromes, cubital|syndromes, cubital tunnel	http://purl.obolibrary.org/obo/MONDO_0043982	Compression of the ULNAR NERVE in the cubital tunnel, which is formed by the two heads of the flexor carpi ulnaris muscle, humeral-ulnar aponeurosis, and medial ligaments of the elbow. This condition may follow trauma or occur in association with processes which produce nerve enlargement or narrowing of the canal. Manifestations include elbow pain and PARESTHESIA radiating distally, weakness of ulnar innervated intrinsic hand muscles, and loss of sensation over the hypothenar region, fifth finger, and ulnar aspect of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43)	SNOMEDCT:56177003|MESH:D020430
MONDO:0006995	tethered spinal cord syndrome	biolink:Disease	mondo	ICD9:741|ICD9:756.19|DOID:1089|ICD10:Q05|SCTID:249491000119100|EFO:1001210|NCIT:C99080|ICD10:Q05.9		spinal dysraphism|spinal cord syndrome|tethered cord	http://purl.obolibrary.org/obo/MONDO_0006995	A progressive neurological disorder characterized by the limitation of movement of the spinal cord within the spine. It is caused by the presence of congenital or acquired tissue attachments in the spinal cord. Signs and symptoms include low back pain, scoliosis, weakness in the legs, and incontinence.	SNOMEDCT:249491000119100|NCIT:C99080|DOID:1089
MONDO:0043985	central nervous system lupus	biolink:Disease	mondo	EFO:1001453|NCIT:C116919|MESH:D020945		CNS lupus|central nervous system systemic lupus Erythematosis|central nervous system lupus|Meningoencephalitides, lupus|neuropsychiatric systemic lupus erythematosus|meningoencephalitis, lupus|lupus meningoencephalitis|central nervous system lupus vasculitis|lupus Meningoencephalitides|systemic lupus Erythematosis, central nervous system	http://purl.obolibrary.org/obo/MONDO_0043985	Inflammation that includes the brain, spinal cord and surrounding tissues secondary to systemic lupus erythematosus (SLE); it is associated with neurological and/or psychiatric features.	MESH:D020945|NCIT:C116919
MONDO:0006992	syphilitic aortitis	biolink:Disease	mondo	EFO:1001206|UMLS:C0003511|MedDRA:10042900|ICD9:093.1|SCTID:20735004|ICD10:A52.02			http://purl.obolibrary.org/obo/MONDO_0006992	Cardiovascular manifestations of syphilis, an infection of treponema pallidum. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the aorta and the aortic valve. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic aneurysm.	UMLS:C0003511|SNOMEDCT:20735004
MONDO:0004333	pancreatic ACTH-producing neuroendocrine tumor	biolink:Disease	mondo	NCIT:C27466|UMLS:C1335300|ICDO:8158/1|DOID:7697		pancreatic ACTH producing tumor|pancreatic ACTH producing NET|pancreatic adrenocorticotropic hormone producing tumor|pancreatic ACTH producing neuroendocrine tumor|pancreatic ACTH-producing neuroendocrine tumor|pancreatic ACTH hormone producing tumor	http://purl.obolibrary.org/obo/MONDO_0004333	A malignant, ectopic ACTH secreting pancreatic neuroendocrine tumor, associated with Cushing's syndrome. The prognosis is usually poor.	UMLS:C1335300|DOID:7697|NCIT:C27466
MONDO:0004332	lung hilum cancer	biolink:Disease	mondo	NCIT:C4566|UMLS:C2607931|UMLS:C0346601|SCTID:93827000|DOID:7696		malignant hilar lung neoplasm|primary malignant neoplasm of hilus of lung|malignant neoplasm of lung hilus|malignant lung hilus neoplasm|malignant tumor of the lung hilum|malignant hilar lung tumor|malignant neoplasm of lung hilum|malignant tumor of lung hilum|cancer of lung hilus|malignant lung hilum tumor|malignant neoplasm of the lung hilum|malignant lung hilum neoplasm|lung hilus cancer	http://purl.obolibrary.org/obo/MONDO_0004332	A malignant neoplasm involving the lung hilus.	SNOMEDCT:93827000|NCIT:C4566|DOID:7696|UMLS:C0346601|UMLS:C2607931
MONDO:0006993	systolic heart failure	biolink:Disease	mondo	EFO:1001207|COHD:443580|UMLS:C1135191|ICD9:428.20|ICD9:428.2|DOID:9651|SCTID:417996009|MedDRA:10074631|ICD10:I50.20|ICD10:I50.2|MESH:D054143			http://purl.obolibrary.org/obo/MONDO_0006993	Heart failure caused by abnormal myocardial contraction during systole leading to defective cardiac emptying.	UMLS:C1135191|MESH:D054143|SNOMEDCT:417996009|DOID:9651
MONDO:0006990	suppurative uveitis	biolink:Disease	mondo	MESH:D015829|EFO:1001203|UMLS:C0042168|DOID:13140			http://purl.obolibrary.org/obo/MONDO_0006990	Intraocular infection caused mainly by pus-producing bacteria and rarely by fungi. The infection may be caused by an injury or surgical wound (exogenous) or by endogenous septic emboli in such diseases as bacterial endocarditis or meningococcemia.	MESH:D015829|UMLS:C0042168|DOID:13140
MONDO:0006991	obsolete sympathetic ophthalmia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006991		
MONDO:0016328	fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy	biolink:Disease	mondo	UMLS:CN226902|Orphanet:217591	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016328		ORPHA:217591|UMLS:CN226902
MONDO:0016329	familial syndrome associated with hypertrophic cardiomyopathy	biolink:Disease	mondo	UMLS:CN201161|Orphanet:217595	ordo_group_of_disorders	syndrome associated with hypertrophic cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0016329		ORPHA:217595|UMLS:CN201161
MONDO:0018987	granulomatous mastitis	biolink:Disease	mondo	GARD:0013119|UMLS:C0405469|Orphanet:64722|MESH:D058890|ICD10:N61|SCTID:237444008	ordo_disease	granulomatous lobular mastitis|idiopathic granulomatous lobular mastitis|idiopathic granulomatous mastitis	http://purl.obolibrary.org/obo/MONDO_0018987	A rare, benign, inflammatory breast disease occurring in premenopausal women shortly after a recent pregnancy. The origin is unknown but it is commonly mistaken for malignancy and sometimes associated with breast feeding and the use of oral contraceptives.	ORPHA:64722|MESH:D058890|UMLS:C0405469|SNOMEDCT:237444008
MONDO:0016324	obsolete hypertrophic cardiomyopathy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016324		
MONDO:0043975	autonomic dysreflexia	biolink:Disease	mondo	SCTID:129618003|MESH:D020211|EFO:1001762|UMLS:C0238015		autonomic Hyperreflexias|dysreflexia|autonomic Dysreflexias, spinal|autonomic Dysreflexia, spinal|autonomic Dysreflexias|Dysreflexia, spinal autonomic|Dysreflexias, spinal autonomic|autonomic dysreflexia|autonomic hyperreflexia|spinal autonomic Dysreflexia|hyperreflexia, autonomic|Dysreflexias, autonomic|Dysreflexia, autonomic|hyperreflexias, autonomic|spinal autonomic Dysreflexias	http://purl.obolibrary.org/obo/MONDO_0043975	A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60)	MESH:D020211|UMLS:C0238015|SNOMEDCT:129618003
MONDO:0016325	glycogen storage disease with hypertrophic cardiomyopathy	biolink:Disease	mondo	Orphanet:217572|UMLS:CN201158|ICD10:E74.0	ordo_group_of_disorders	GSD with hypertrophic cardiomyopathy|glycogenosis with hypertrophic cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0016325		ORPHA:217572|UMLS:CN201158
MONDO:0018986	obsolete leiomyosarcoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018986		
MONDO:0018989	recurrent acute pancreatitis	biolink:Disease	mondo	MedDRA:10033657|ICD10:K85.2|ICD10:K85.1|ICD10:K85.0|ICD10:K85.9|UMLS:C0267937|SCTID:197458008|ICD10:K85.8|Orphanet:64740|ICD10:K85.3	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018989	Recurrent acute pancreatitis (RAP) is characterized by repeated attacks of acute pancreatitis (AP), which is defined as an acute inflammatory process of the pancreas with variable involvement of other regional tissues or remote organ systems.	ORPHA:64740|UMLS:C0267937|SNOMEDCT:197458008|MEDDRA:10033657
MONDO:0016326	lysosomal disease with hypertrophic cardiomyopathy	biolink:Disease	mondo	Orphanet:217581|UMLS:CN201159	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016326		ORPHA:217581|UMLS:CN201159
MONDO:0016327	mitochondrial disease with hypertrophic cardiomyopathy	biolink:Disease	mondo	Orphanet:217587|UMLS:CN201160	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016327		ORPHA:217587|UMLS:CN201160
MONDO:0018988	iridocorneal endothelial syndrome	biolink:Disease	mondo	GARD:0000060|NCIT:C84792|SCTID:129623003|UMLS:CN205427|UMLS:C1096100|Orphanet:64734|MESH:D057129|ICD10:H21.1|MedDRA:10053678	gard_rare|ordo_disease	ICE syndrome	http://purl.obolibrary.org/obo/MONDO_0018988	Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler syndrome, Cogan-Reese syndrome and essential iris atrophy, affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications	NCIT:C84792|ORPHA:64734|MESH:D057129|MEDDRA:10053678|UMLS:C0339285|SNOMEDCT:129623003|UMLS:C1096100|UMLS:CN205427
MONDO:0018983	tolosa-Hunt syndrome	biolink:Disease	mondo	NCIT:C85193|UMLS:C0392060|DOID:1278|Orphanet:64686|MedDRA:10051526|GARD:0007777|MESH:D020333|UMLS:C0040381|UMLS:CN205421|ICD10:H49.8|SCTID:95794005	ordo_disease|gard_rare	nonspecific inflammation of the cavernous sinus or superior orbital fissure|tolosa Hunt syndrome|THS|painful ophthalmoplegia|tolosa-Hunt syndrome	http://purl.obolibrary.org/obo/MONDO_0018983	Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others.	ORPHA:64686|MESH:C531833|SNOMEDCT:95794005|MEDDRA:10051526|UMLS:C0040381|NCIT:C85193|DOID:1278|UMLS:CN205421|UMLS:C0392060|MESH:D020333
MONDO:0016320	rare hereditary thrombophilia	biolink:Disease	mondo	ICD10:D68.5|UMLS:C2584620|Orphanet:217454	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016320		UMLS:C2584620|ORPHA:217454
MONDO:0016321	pulmonary interstitial glycogenosis	biolink:Disease	mondo	ICD10:J84.842|ICD10:P22.8|SCTID:707551007|UMLS:C3161106|Orphanet:217557	ordo_disease	infantile cellular interstitial pneumonitis|pig	http://purl.obolibrary.org/obo/MONDO_0016321	Pulmonary interstitial glycogenosis (PIG) is a rare non-lethal pediatric form of interstitial lung disease (ILD).	SNOMEDCT:707551007|UMLS:C3161106|ORPHA:217557
MONDO:0018982	Niemann-Pick disease type C	biolink:Disease	mondo	SCTID:66751000|Orphanet:646|MESH:D052556|ICD10:E75.2	ordo_disease	NPC	http://purl.obolibrary.org/obo/MONDO_0018982	NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment.	ORPHA:646|SNOMEDCT:66751000|MESH:D052556|UMLS:C0220756
MONDO:0016322	neuroendocrine cell hyperplasia of infancy	biolink:Disease	mondo	NCIT:C120169|ICD10:J84.841|Orphanet:217560|UMLS:C3161105|SCTID:707435002	ordo_disease	NEHI|NCHI	http://purl.obolibrary.org/obo/MONDO_0016322	Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD) characterized by tachypnea without respiratory failure.	ORPHA:217560|NCIT:C120169|SNOMEDCT:707435002|UMLS:C3161105
NCBITaxon:33511	Deuterostomia	organism taxon	mondo	GC_ID:1		deuterostomes	http://purl.obolibrary.org/obo/NCBITaxon_33511		
MONDO:0018985	obsolete trench fever	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018985		
MONDO:0018984	Oroya fever	biolink:Disease	mondo	SCTID:262461007|UMLS:C0029307|ICD10:A44.0|DOID:0050398|UMLS:CN205422|SCTID:240453002|NCIT:C128441|Orphanet:64692	ordo_disease	Oroya fever|Bartonella bacilliformis disease or disorder|Bartonella bacilliformis infectious disease|Bartonella bacilliformis caused disease or disorder|Carrion's disease|bartonellosis due to Bartonella bacilliformis infection|Carrión disease|Carrion disease	http://purl.obolibrary.org/obo/MONDO_0018984	An infection that is caused by Bartonella bacilliformis, which is transmitted to humans from infected sandflies. The acute phase (Oroya fever) is characterized by fever, headache, myalgia, enlargement of the lymph nodes, and anemia. The chronic phase (verruga peruana/Peruvian wart) is characterized by benign, eruptive lesions that are bleeding and pruritic, arthralgia, and malaise.	UMLS:C0348974|SNOMEDCT:240453002|ORPHA:64692|SNOMEDCT:262461007|NCIT:C128441|DOID:0050398|UMLS:CN205422|UMLS:C0029307
MONDO:0016323	chronic respiratory distress with surfactant metabolism deficiency	biolink:Disease	mondo	ICD10:J84.8|Orphanet:217566	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016323		ORPHA:217566
MONDO:0018981	benign idiopathic neonatal seizures	biolink:Disease	mondo	UMLS:CN205419|ICD10:G40.4|Orphanet:64545	ordo_disease	BINS|benign nonfamilial neonatal seizures	http://purl.obolibrary.org/obo/MONDO_0018981		UMLS:CN205419|ORPHA:64545
MONDO:0018980	acrofacial dysostosis, Kennedy-Teebi type	biolink:Disease	mondo	SCTID:720427009|UMLS:CN205418|Orphanet:64542|ICD10:Q75.4	ordo_malformation_syndrome	Kennedy-Teebi syndrome	http://purl.obolibrary.org/obo/MONDO_0018980	Acrofacial dysostosis, Kennedy-Teebi type was reported as a new type of acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype.	UMLS:CN205418|ORPHA:64542|SNOMEDCT:720427009
MONDO:0004349	retina lymphoma	biolink:Disease	mondo	DOID:774|ICD9:198.4|SCTID:232075002|NCIT:C4365|UMLS:C0339556		lymphoma of retina|lymphoma of the retina|retina lymphoma|primary retinal lymphoma|retinal lymphoma	http://purl.obolibrary.org/obo/MONDO_0004349	A lymphoma that involves the retina.	NCIT:C4365|DOID:774|UMLS:C0339556|SNOMEDCT:232075002
HGNC:26006	TTC19	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26006		
MONDO:0004346	signet ring cell intrahepatic cholangiocarcinoma	biolink:Disease	mondo	NCIT:C41619|UMLS:C1519321|DOID:7733		signet Ring cell intrahepatic cholangiocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004346	An intrahepatic cholangiocarcinoma characterized by the presence of signet ring adenocarcinoma cells.	NCIT:C41619|DOID:7733|UMLS:C1519321
MONDO:0004345	childhood malignant schwannoma	biolink:Disease	mondo	UMLS:C0279987|DOID:7732|NCIT:C8094		childhood malignant tumor of the peripheral nerve sheath|childhood malignant peripheral nerve sheath neoplasm|childhood malignant tumor of peripheral nerve sheath|childhood malignant neurilemmoma|pediatric malignant neoplasm of the peripheral nerve sheath|malignant peripheral nerve sheath tumor|pediatric malignant neoplasm of peripheral nerve sheath|pediatric malignant peripheral nerve sheath tumor|childhood neurofibrosarcoma|childhood neurogenic sarcoma|childhood malignant schwannoma|pediatric malignant peripheral nerve sheath neoplasm|pediatric malignant tumor of the peripheral nerve sheath|pediatric malignant tumor of peripheral nerve sheath|childhood malignant neoplasm of the peripheral nerve sheath|pediatric MPNST|pediatric malignant neurilemmoma|childhood malignant neoplasm of peripheral nerve sheath|childhood malignant peripheral nerve sheath tumor|childhood MPNST|pediatric malignant schwannoma	http://purl.obolibrary.org/obo/MONDO_0004345	A malignant peripheral nerve sheath tumor occurring in children.	DOID:7732|NCIT:C8094|UMLS:C0279987
MONDO:0004348	retinal telangiectasia	biolink:Disease	mondo	SCTID:84884003|HP:0007763|UMLS:C0154835|DOID:7736|ICD9:362.15			http://purl.obolibrary.org/obo/MONDO_0004348		SNOMEDCT:84884003|UMLS:C0154835|DOID:7736
MONDO:0004347		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004347		
MONDO:0043994	acute cholecystitis	biolink:Disease	mondo	MESH:D041881|SCTID:65275009|NCIT:C35152		acute cholecystitis	http://purl.obolibrary.org/obo/MONDO_0043994	Acute inflammation of the gallbladder.	NCIT:C35152|MESH:D041881|SNOMEDCT:65275009
MONDO:0004342	obsolete osteoclast-like giant cell neoplasm of the pancreas	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004342		
MONDO:0004341	colloid carcinoma of the pancreas	biolink:Disease	mondo	DOID:7717|NCIT:C37214|UMLS:C1333081		mucinous Noncystic carcinoma|pancreatic mucinous Noncystic carcinoma|colloid carcinoma of the pancreas	http://purl.obolibrary.org/obo/MONDO_0004341	An infiltrating pancreatic ductal adenocarcinoma, characterized by the presence of malignant cells floating in pools of mucin. It has a more favorable prognosis than the conventional infiltrating ductal adenocarcinoma. It often arises in association with intraductal pancreatic mucinous neoplasms and in some cases it may result in the development of pseudomyxoma peritonei.	UMLS:C1333081|DOID:7717|NCIT:C37214
MONDO:0004344	childhood malignant hemangiopericytoma	biolink:Disease	mondo	NCIT:C8090|UMLS:C0279983|DOID:7731		malignant childhood hemangiopericytoma|malignant hemangiopericytoma|malignant pediatric hemangiopericytoma	http://purl.obolibrary.org/obo/MONDO_0004344	A malignant hemangiopericytoma occurring in childhood.	DOID:7731|NCIT:C8090|UMLS:C0279983
MONDO:0004343	pancreatic acinar cell cystadenocarcinoma	biolink:Disease	mondo	DOID:7729|NCIT:C5727|ICDO:8551/3|UMLS:C1266087		acinar cell cystadenocarcinoma (morphologic abnormality)|acinar cell cystadenocarcinoma|acinar cell cystadenocarcinoma of pancreas|acinar cell cystadenocarcinoma of the pancreas|pancreatic acinar cell cystadenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004343	A cystic adenocarcinoma characterized by the presence of relatively uniform neoplastic cells which produce pancreatic enzymes and are arranged in acinar patterns. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It usually has an aggressive clinical course.	DOID:7729|UMLS:C1266087|NCIT:C5727
MONDO:0004340	mixed ductal-endocrine carcinoma of pancreas	biolink:Disease	mondo	UMLS:C1301048|DOID:7716|NCIT:C6879		mixed ductal-endocrine carcinoma|mixed ductal-neuroendocrine carcinoma of the pancreas|mixed ductal-endocrine carcinoma of the pancreas	http://purl.obolibrary.org/obo/MONDO_0004340	A carcinoma that arises from the pancreas showing a mixture of ductal and neuroendocrine malignant cells in both the primary tumor and in the metastatic sites.	DOID:7716|UMLS:C1301048|NCIT:C6879
MONDO:0016317	limbic encephalitis with NMDA receptor antibodies	biolink:Disease	mondo	UMLS:C4274344|Orphanet:217253|ICD10:G13.1|UMLS:CN201135|SCTID:716684004	ordo_disease	limbic encephalitis with N-methyl-D-aspartate receptor antibodies	http://purl.obolibrary.org/obo/MONDO_0016317	Limbic encephalitis with anti-N-methyl-D-aspartate (NMDA) receptor antibodies is a recently described type of encephalitis affecting young women with teratoma of ovary and associated with antibodies that react with neuronal cell surface auto-antigens.	ORPHA:217253|UMLS:C4274344|SNOMEDCT:716684004|UMLS:CN201135
MONDO:0016318	progressive multifocal leukoencephalopathy	biolink:Disease	mondo	MESH:D007968|DOID:643|EFO:0007455|ICD10:A81.2|SCTID:22255007|GARD:0007468|NCIT:C26815|COHD:433957|ICD9:046.3|Orphanet:217260|UMLS:C0023524|MedDRA:10036807	gard_rare|ordo_disease	PML|leukoencephalopathy, progressive multifocal|progressive multifocal leukoencephalitis	http://purl.obolibrary.org/obo/MONDO_0016318	Progressive multifocal leukoencephalopathy (PML) is a neurological disorder that damages the myelin that covers and protects nerves in the white matter of the brain. It is caused by the JC virus (JCV). By age 10, most people have been infected with this virus, but itrarelycauses symptoms unless the immune system becomes severely weakened.The disease occurs, rarely, in organ transplant patients; people undergoing chronic corticosteroid or immunosuppressive therapy; and individuals with cancer, such as Hodgkins disease, lymphoma, and sarcoidosis. PML is most common among individuals with acquired immune deficiency syndrome (AIDS).	UMLS:C0023524|MESH:D007968|SNOMEDCT:22255007|ORPHA:217260|NCIT:C26815|MEDDRA:10036807|DOID:643
MONDO:0018979	multifocal motor neuropathy	biolink:Disease	mondo	Orphanet:641|SCTID:230591002|ICD10:G61.82|ICD9:357.89|UMLS:C0393847|ICD10:G61.8|GARD:0011011	ordo_disease|gard_rare	MMN|MMNCB|multifocal motor neuropathy with conduction block	http://purl.obolibrary.org/obo/MONDO_0018979	Multifocal motor neuropathy (MMN) is a rare acquired immune-mediatedneuropathy characterized clinically by a purely motor deficit with conduction block and asymmetric multifocal weakness, fasciculations, and cramping.	UMLS:C0393847|ORPHA:641|SNOMEDCT:230591002
MONDO:0016319	congenital insensitivity to pain with hyperhidrosis	biolink:Disease	mondo	Orphanet:217399|ICD10:G90.8	ordo_disease	congenital analgesia with hyperhidrosis|congenital indifference to pain with hyperhidrosis|congenital absence of pain with hyperhidrosis	http://purl.obolibrary.org/obo/MONDO_0016319		ORPHA:217399
MONDO:0018976	schisis association	biolink:Disease	mondo	ICD10:Q87.8|MESH:C536633|SCTID:718095000|GARD:0000246|Orphanet:63862|UMLS:C2931271	gard_rare|ordo_malformation_syndrome	Midline development field defects	http://purl.obolibrary.org/obo/MONDO_0018976	Schisis association describes the combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia. These anomalies are associated at a higher frequency than would be expected with random combination rates.	UMLS:C2931271|SNOMEDCT:718095000|ORPHA:63862|MESH:C536633
MONDO:0016313	obsolete renal cell carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016313		
MONDO:0016314	obsolete rare carcinoma of pancreas	biolink:Disease	mondo	Orphanet:217074|UMLS:CN201130	obsoletion_candidate|ordo_group_of_disorders	rare exocrine pancreatic carcinoma|rare pancreatic carcinoma	http://purl.obolibrary.org/obo/MONDO_0016314	Rare pancreatic carcinoma.	ORPHA:217074|UMLS:CN201130
MONDO:0018975	neurofibromatosis type 1	biolink:Disease	mondo	OMIM:162200|GARD:0007866|COHD:377252|UMLS:C0027831|SCTID:92824003|DOID:0111253|MedDRA:10047712|NCIT:C3273|ICD10:Q85.0|MESH:D009456|ICD9:237.71|Orphanet:636	ordo_disease	neurofibromatosis, type 1|peripheral neurofibromatosis|Von Recklinghausen disease|Recklinghausen's disease|type 1 neurofibromatosis|NF1|neurofibromatosis, type I; NF1|neurofibromatosis type 1 microdeletion syndrome|neurofibromatosis, type I|neurofibromatosis, peripheral type|von Reklinghausen disease|neurofibromatosis type 1|neurofibromatosis 1|neurofibromatosis	http://purl.obolibrary.org/obo/MONDO_0018975	Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.	NCIT:C3273|UMLS:C0027831|SNOMEDCT:92824003|MESH:C538607|MESH:D009456|ORPHA:636|DOID:0111253|MEDDRA:10047712|http://identifiers.org/omim/162200
MONDO:0016315	mucopolysaccharidosis type 2, severe form	biolink:Disease	mondo	ICD10:E76.1|SCTID:73146005|Orphanet:217085|UMLS:CN201131	ordo_clinical_subtype	Hunter syndrome type A|mucopolysaccharidosis type 2A|MPSIIA|MPS2A|mucopolysaccharidosis type IIA|iduronate 2-sulfatase deficiency type A|mucopolysaccharidosis type II, severe form	http://purl.obolibrary.org/obo/MONDO_0016315	Mucopolysaccharidosis type 2 (MPS2), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.	ORPHA:217085|UMLS:CN201131|SNOMEDCT:73146005
MONDO:0018978	IgG4-related mediastinitis	biolink:Disease	mondo	MedDRA:10027074|Orphanet:63999|GARD:0008337|MESH:C536136|ICD10:J98.5	ordo_disease	idiopathic mediastinal fibrosis|mediastinal fibrosis|fibrosing mediastinitis|sclerosing mediastinitis	http://purl.obolibrary.org/obo/MONDO_0018978		ORPHA:63999|MESH:C536136|UMLS:C0264573|UMLS:C0221386|MEDDRA:10027074
MONDO:0018977	polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG	biolink:Disease	mondo	Orphanet:639|UMLS:C1736154|ICD10:G61.8	ordo_disease	anti-MAG neuropathy|neuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein	http://purl.obolibrary.org/obo/MONDO_0018977	Polyneuropathy associated with IgM monoclonal gammapathy (MG) with anti-MAG (myelin-associated-glycoprotein) activity is a demyelinating polyneuropathy characterized clinically by sensory ataxia, tremor, paresthesia, and impaired gait.	UMLS:C1736154|ORPHA:639
MONDO:0016316	mucopolysaccharidosis type 2, attenuated form	biolink:Disease	mondo	ICD10:E76.1|Orphanet:217093|UMLS:CN201132	ordo_clinical_subtype	Hunter syndrome type B|mucopolysaccharidosis type 2B|mucopolysaccharidosis type II, attenuated form|mucopolysaccharidosis type IIB|iduronate 2-sulfatase deficiency type B|MPSIIB|MPS2B	http://purl.obolibrary.org/obo/MONDO_0016316	Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2, leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form by the absence of cognitive decline.	ORPHA:217093|UMLS:CN201132
MONDO:0043988	zoster sine herpete	biolink:Disease	mondo	EFO:1001827|SCTID:449783002|MESH:D031368|UMLS:C1135841		zoster sine herpete|Zoster sine Eruptione	http://purl.obolibrary.org/obo/MONDO_0043988	Herpes zoster but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult.	SNOMEDCT:449783002|MESH:D031368|UMLS:C1135841
MONDO:0018972	rare epithelial tumor of stomach	biolink:Disease	mondo	MedDRA:10017758|Orphanet:63443|UMLS:CN235187	obsoletion_candidate|ordo_group_of_disorders	rare gastric epithelial tumor	http://purl.obolibrary.org/obo/MONDO_0018972		ORPHA:63443|MEDDRA:10017758|UMLS:CN235187
MONDO:0016310	Niemann-Pick disease type C, adult neurologic onset	biolink:Disease	mondo	UMLS:CN201116|Orphanet:216986|ICD10:E75.2	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0016310		UMLS:CN201116|ORPHA:216986
MONDO:0018971	isolated oxycephaly	biolink:Disease	mondo	ICD10:Q75.0|Orphanet:63440|SCTID:48069004	ordo_morphological_anomaly	acrocephaly|pyrgocephaly|hypsicephaly|turricephaly|hypsocephaly	http://purl.obolibrary.org/obo/MONDO_0018971	Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull.	ORPHA:63440|SNOMEDCT:48069004
HGNC:14024	PRY	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14024		
HGNC:14025	SLC5A7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14025		
MONDO:0018974	paraneoplastic pemphigus	biolink:Disease	mondo	ICD10:L10.81|UMLS:C1112570|MedDRA:10057056|Orphanet:63455|ICD10:L10.8|EFO:0008602	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018974	Pemphigus is a group of chronic autoimmune skin diseases characterised by blisters formation on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which paraneoplastic pemphigus is extremely rare.	UMLS:C1112570|ORPHA:63455|MEDDRA:10057056
MONDO:0016311	Bockenheimer syndrome	biolink:Disease	mondo	UMLS:CN201119|ICD10:Q27.4|Orphanet:217008|GARD:0013063	ordo_malformation_syndrome	genuine diffuse phlebectasia	http://purl.obolibrary.org/obo/MONDO_0016311		UMLS:CN201119|ORPHA:217008
MONDO:0018973	patterned dystrophy of the retinal pigment epithelium	biolink:Disease	mondo	MESH:C536309|ICD10:H35.5|UMLS:C1868569|Orphanet:63454|GARD:0009821	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018973		ORPHA:63454|MESH:C536309|UMLS:C1868569
MONDO:0016312	5-fluorouracil poisoning	biolink:Disease	mondo	ICD10:T45.1|UMLS:CN201128|MESH:C531667|Orphanet:217064	ordo_clinical_situation	5-fluorouracil intoxication	http://purl.obolibrary.org/obo/MONDO_0016312	5-fluorouracil (5-FU) poisoning is a rare intoxication caused by the prolonged, low-dose administration of 5-FU, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-FU poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-FU-related toxicity than men.	MESH:C531667|UMLS:CN201128|ORPHA:217064
MONDO:0018970	obsolete pemphigoid gestationis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018970		
MONDO:0016380	acquired hypertrichosis lanuginosa	biolink:Disease	mondo	Orphanet:2221|UMLS:CN201274|SCTID:25967007|GARD:0002864|ICD10:L68.1	ordo_disease|gard_rare	hypertrichosis lanuginosa, acquired	http://purl.obolibrary.org/obo/MONDO_0016380	Acquired hypertrichosis lanuginosa is a rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary.	SNOMEDCT:25967007|ORPHA:2221|UMLS:CN201274
MONDO:0016381	hypertrichosis lanuginosa congenita	biolink:Disease	mondo	GARD:0002865|SCTID:201163007|OMIM:145700|ICD10:Q84.2|Orphanet:2222|MESH:C538389	ordo_disease	hypertrichosis universalis|hypertrichosis lanuginosa congenita|hypertrichosis lanuginosa universalis|congenital hypertrichosis lanuginosa	http://purl.obolibrary.org/obo/MONDO_0016381	Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes.	http://identifiers.org/omim/145700|SNOMEDCT:201163007|ORPHA:2222|MESH:C538389|UMLS:C0235864
HGNC:28636	B9D2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28636		
MONDO:0004397	benign mediastinal psammomatous neurilemmoma	biolink:Disease	mondo	DOID:7921|UMLS:C1332513|NCIT:C6636		benign psammomatous schwannoma of the mediastinum|benign psammomatous schwannoma of mediastinum|benign psammomatous neurilemmoma of the mediastinum|benign mediastinal psammomatous schwannoma|benign psammomatous neurilemmoma of mediastinum	http://purl.obolibrary.org/obo/MONDO_0004397	A schwannoma that arises from the posterior mediastinum. It is characterized by the presence of psammoma bodies.	NCIT:C6636|DOID:7921|UMLS:C1332513
MONDO:0004396	cervical spinal canal and spinal cord meningioma	biolink:Disease	mondo	UMLS:C1332916|NCIT:C5296|DOID:7915		cervical intraspinal meningioma|meningioma of the cervical spinal canal and spinal cord|meningioma of cervical spinal canal and spinal cord	http://purl.obolibrary.org/obo/MONDO_0004396	A meningioma that arises from the meninges of the cervical region of the spinal cord.	NCIT:C5296|DOID:7915|UMLS:C1332916
MONDO:0004399	obsolete epithelial malignant thymoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004399		
MONDO:0004398	mediastinal schwannoma	biolink:Disease	mondo	DOID:7922|NCIT:C6643|UMLS:C1334679|DOID:6175		neurilemmoma of the mediastinum|neurilemmoma of mediastinum|mediastinal neurilemmoma|benign schwannoma of the mediastinum|mediastinal schwannoma|benign mediastinal neurilemmoma|benign neurilemmoma of the mediastinum|benign schwannoma of mediastinum|schwannoma of the mediastinum|benign neurilemmoma of mediastinum|mediastinum schwannoma|schwannoma of mediastinum|benign mediastinal schwannoma	http://purl.obolibrary.org/obo/MONDO_0004398	A schwannoma that arises from the posterior mediastinum. It is the most common neurogenic tumor of the mediastinum. Excision is usually curative.	NCIT:C6643|NCIT:C6625|UMLS:C1334679|DOID:6175|DOID:7922
MONDO:0004393	mixed astrocytoma-ependymoma	biolink:Disease	mondo	DOID:7907|UMLS:C0280791|NCIT:C8271		mixed astrocytoma-ependymoma	http://purl.obolibrary.org/obo/MONDO_0004393	A tumor of mixed cell type with astrocytic components as well as ependymoma components.	UMLS:C0280791|DOID:7907|NCIT:C8271
MONDO:0004392	intracranial extraskeletal myxoid chondrosarcoma	biolink:Disease	mondo	NCIT:C5462|DOID:7903|UMLS:C1334238		intracranial extraskeletal myxoid chondrosarcoma|intracranial chondrosarcoma	http://purl.obolibrary.org/obo/MONDO_0004392	An extraskeletal myxoid chondrosarcoma arising from the structures within the cranium.	NCIT:C5462|UMLS:C1334238|DOID:7903
MONDO:0004395	obsolete mixed oligodendroglioma-astrocytoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004395		
MONDO:0004394	maxillary sinus squamous cell carcinoma	biolink:Disease	mondo	SCTID:707354003|UMLS:C1334647|NCIT:C6064|DOID:7910		squamous cell carcinoma of the maxillofacial sinus|squamous cell carcinoma of maxillofacial sinus|squamous cell carcinoma of the maxillary sinus|squamous cell carcinoma of maxillary sinus|epidermoid carcinoma of maxillary antrum|maxillary antrum squamous cell carcinoma|epidermoid carcinoma of the maxillary antrum|maxillary sinus epidermoid carcinoma|epidermoid carcinoma of maxillofacial sinus|maxillofacial sinus squamous cell carcinoma|maxillofacial sinus epidermoid carcinoma|epidermoid carcinoma of the maxillofacial sinus|maxillary sinus squamous cell carcinoma|epidermoid carcinoma of the maxillary sinus|epidermoid carcinoma of maxillary sinus|squamous cell carcinoma of maxillary antrum|maxillary antrum epidermoid carcinoma|squamous cell carcinoma of the maxillary antrum	http://purl.obolibrary.org/obo/MONDO_0004394	A squamous cell carcinoma that arises from the mucosal epithelial surface of the maxillary sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.	NCIT:C6064|SNOMEDCT:707354003|UMLS:C1334647|DOID:7910
MONDO:0004391	obsolete adult extraosseous chondrosarcoma	biolink:Disease	mondo	DOID:7902		extraosseous chondrosarcoma of adults	http://purl.obolibrary.org/obo/MONDO_0004391	A extraosseous chondrosarcoma that occurs in an adult.	DOID:7902
MONDO:0004390	ocular hypotension	biolink:Disease	mondo	ICD10:H44.40|UMLS:C0028841|SCTID:19721008|ICD9:360.30|ICD10:H44.4|DOID:790|COHD:376107|MESH:D015814|ICD9:360.3		hypotony of eye	http://purl.obolibrary.org/obo/MONDO_0004390	Abnormally low intraocular pressure often related to chronic inflammation (uveitis).	UMLS:C0028841|MESH:D015814|DOID:790|SNOMEDCT:19721008
GO:0033280	response to vitamin D	biolink:OntologyClass	mondo			response to calciferol|response to cholecalciferol|response to ergocalciferol	http://purl.obolibrary.org/obo/GO_0033280	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin D stimulus.	
HP:0005445	Enlarged posterior fossa	biolink:PhenotypicFeature	mondo	UMLS:C1855889		Widened posterior fossa	http://purl.obolibrary.org/obo/HP_0005445	Abnormal increased size of the posterior cranial fossa.	
MONDO:0016386	hypogonadotropic hypogonadism-retinitis pigmentosa syndrome	biolink:Disease	mondo	UMLS:C2931722|MESH:C538075|Orphanet:2235	ordo_disease	Chang-Davidson-Carlson syndrome	http://purl.obolibrary.org/obo/MONDO_0016386	This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents.	UMLS:C2931722|MESH:C538075|ORPHA:2235
MONDO:0016387	mitochondrial oxidative phosphorylation disorder	biolink:Disease	mondo	UMLS:CN201288|Orphanet:223713	ordo_group_of_disorders	OXPHOS disease|OXPHOS system deficiency	http://purl.obolibrary.org/obo/MONDO_0016387		ORPHA:223713|UMLS:CN201288
MONDO:0016388	obsolete bone sarcoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016388		
MONDO:0016389	obsolete lymphoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016389		
MONDO:0016382	hereditary poikiloderma	biolink:Disease	mondo	Orphanet:222628	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016382		ORPHA:222628
MONDO:0016383	nephrogenic diabetes insipidus	biolink:Disease	mondo	GARD:0007178|MESH:D018500|Orphanet:223|DOID:12387|ICD9:588.1|COHD:438476|SCTID:111395007|ICD10:N25.1|NCIT:C84919|MedDRA:10029147|UMLS:C0162283	ordo_disease	diabetes insipidus nephrogenic type 1|vasopressin-resistant diabetes insipidus|ADH resistant diabetes insipidus|diabetes insipidus nephrogenic|diabetes insipidus nephrogenic X-linked	http://purl.obolibrary.org/obo/MONDO_0016383	Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children.	DOID:12387|MESH:D018500|NCIT:C84919|SNOMEDCT:111395007|UMLS:C0162283|ORPHA:223|MEDDRA:10029147
MONDO:0016384	hypogonadotropic hypogonadism-frontoparietal alopecia syndrome	biolink:Disease	mondo	Orphanet:2230|SCTID:721842008|UMLS:CN201280|ICD10:E23.0	ordo_disease	Salti-Salem syndrome	http://purl.obolibrary.org/obo/MONDO_0016384	This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia.	SNOMEDCT:721842008|ORPHA:2230|UMLS:CN201280
MONDO:0016385	hypogonadism-mitral valve prolapse-intellectual disability syndrome	biolink:Disease	mondo	Orphanet:2233|GARD:0001078|MESH:C537981|UMLS:C2931685|SCTID:721841001|ICD10:Q87.8	ordo_disease|gard_rare	Cantalamessa-Baldini-Ambrosi syndrome|primary gonadal failure, short stature, mitral valve prolapse, and intellectual disability|primary gonadal failure, short stature, mitral valve prolapse, and mental retardation|Cantalamessa Baldini Ambrosi syndrome	http://purl.obolibrary.org/obo/MONDO_0016385	This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature.	SNOMEDCT:721841001|UMLS:C2931685|ORPHA:2233|MESH:C537981
HGNC:16650	MRPL44	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16650		
MONDO:0043919	radiation pneumonitis	biolink:Disease	mondo	EFO:0008517|MESH:D017564|SCTID:84004001		Pneumonias, radiation|radiation fibrosis|radiation Pneumonias|fibrosis, radiation|radiation pneumonitis|Pneumonitides, radiation|pneumonitis, radiation|pulmonary radiation alveolitis|radiation pneumonia|pneumonia, radiation|radiation Pneumonitides	http://purl.obolibrary.org/obo/MONDO_0043919	Inflammation of the lung due to harmful effects of ionizing or non-ionizing radiation.	MESH:D017564|SNOMEDCT:84004001
MONDO:0016370	Marchiafava-Bignami disease	biolink:Disease	mondo	ICD10:G37.1|MedDRA:10026828|ICD9:341.8|Orphanet:221074|GARD:0006971|NCIT:C97045|MESH:D054319|UMLS:C0238265|SCTID:386766007|EFO:1001809	ordo_disease|gard_rare	acute Marchiafava-Bignami disease|metabolic bone disorder|metabolic bone disease|MBD|chronic Marchiafava-Bignami syndrome|Marchiafava Bignami disease	http://purl.obolibrary.org/obo/MONDO_0016370	Marchiafava Bignami disease is defined by characteristic demyelination of the corpus callosum (erosion of the protective covering of nerve fibers joining the 2 hemispheres of the brain). The disease seems to most often affect severe and chronic alcoholics in their middle or late adult life. Early symptoms may include depression, paranoia, psychosis, or dementia. Seizures are common, and hemiparesis, aphasia, abnormal movements, and ataxia may sometimesprogress to coma and/or death. The cause of Marchiafava Bignami disease, including the potential role of nutritional deficiency, remains unknown. Improvement and recovery of some individuals has been reported. Treatment focuses on nutritional support and rehabilitation from alcoholism.	NCIT:C97045|ORPHA:221074|MEDDRA:10026828|UMLS:C0238265|SNOMEDCT:386766007|MESH:D054319
UBERON:3010200	vasculature of respiratory integument	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_3010200	Blood vessels in respiratory skin.	
HGNC:28648	DIS3L2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28648		
GO:0033273	response to vitamin	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0033273	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin stimulus.	
MONDO:0016379	erosive pustular dermatosis of the scalp	biolink:Disease	mondo	SCTID:238733003|UMLS:C0406464|GARD:0002188|Orphanet:222	ordo_disease|gard_rare		http://purl.obolibrary.org/obo/MONDO_0016379	70 years old) and characterized by the development of painful pustules, shallow erosions, and crusting on atrophic skin that eventually result in cicatricial alopecia.	ORPHA:222|SNOMEDCT:238733003|UMLS:C0406464
MONDO:0043923	lichen planus, oral	biolink:Disease	mondo	NCIT:C7406|SCTID:235049008|EFO:1001415|UMLS:C0206139|MESH:D017676		olp - oral lichen planus|oral lichen planus	http://purl.obolibrary.org/obo/MONDO_0043923	A chronic, autoimmune inflammatory condition of the mucous membranes in the oral cavity that affects approximately two percent of the population and is most often seen in middle aged women. It is characterized by white, lacy patches; red, swollen tissue; papules and plaques; or open sores. The lesions are typically bilateral.	UMLS:C0206139|SNOMEDCT:235049008|NCIT:C7406|MESH:D017676
MONDO:0016375	acquired peripheral movement disorder	biolink:Disease	mondo	Orphanet:221114|UMLS:CN226913	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016375		UMLS:CN226913|ORPHA:221114
MONDO:0016376	confetti-like macular atrophy	biolink:Disease	mondo	Orphanet:221142|ICD10:L90.8	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016376		ORPHA:221142
MONDO:0016377	Pitt-Hopkins-like syndrome	biolink:Disease	mondo	UMLS:CN239445|Orphanet:221150|GARD:0011967	ordo_disease|gard_rare	PTHSL	http://purl.obolibrary.org/obo/MONDO_0016377	Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated.	ORPHA:221150|UMLS:CN239445
MONDO:0016378	maternal hyperthermia induced birth defects	biolink:Disease	mondo	SCTID:765138001|UMLS:C0265377|Orphanet:2216|ICD10:Q86.8|GARD:0002856	ordo_malformation_syndrome|gard_rare	hyperthermia induced defects	http://purl.obolibrary.org/obo/MONDO_0016378	Maternal hyperthermia induced birth defects is a rare maternal disease-related embryofetopathy characterized by variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, ecephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (e.g., bifid uvula, preauricular pit or tag). Consensus regarding cause-effect relationship has not been reached.	UMLS:C0265377|SNOMEDCT:765138001|ORPHA:2216
HGNC:14004	ANO3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14004		
MONDO:0016371	combined hyperactive dysfunction syndrome of the cranial nerves	biolink:Disease	mondo	Orphanet:221078|UMLS:CN201241	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016371		ORPHA:221078|UMLS:CN201241
MONDO:0016372	glossopharyngeal neuralgia	biolink:Disease	mondo	ICD10:G52.1|Orphanet:221098|DOID:14423|UMLS:C0154731|SCTID:43763009|MedDRA:10018391|GARD:0006519|COHD:380100|ICD9:352.1	gard_rare|ordo_disease	glossopharyngeal nerve neuralgia|Glossovasopharyngeal neuralgia|glossopharyngeal neuralgia|neuralgia of glossopharyngeal nerve	http://purl.obolibrary.org/obo/MONDO_0016372	Glossopharyngeal neuralgia is a condition characterized by repeated episodes of severe pain in the tongue, throat, ear, and tonsils (areas connected to the ninth cranial nerve, or glossopharyngeal nerve). It typically occurs in individuals over age 40. Episodes of pain may last from a few seconds to a few minutes, and usually occur on one side. The pain may be triggered by swallowing, speaking, laughing, chewing or coughing. The condition is thought to be due to irritation of the nerve, although the source of irritation is unclear. The goal of treatment is to control pain, but over-the-counter pain medications are not very effective; the most effective drugs are anti-seizure medications. Some antidepressants help certain people. Surgery to cut or take pressure off of the glossopharyngeal nerve may be needed in severe cases.	ORPHA:221098|SNOMEDCT:43763009|UMLS:C0154731|MEDDRA:10018391|DOID:14423
MONDO:0016373	isolated facial myokymia	biolink:Disease	mondo	ICD10:G51.4|Orphanet:221106	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016373		ORPHA:221106
MONDO:0016374	cranial neuralgia	biolink:Disease	mondo	UMLS:C0010269|Orphanet:221109|SCTID:23096007	ordo_group_of_disorders	neuralgia of cranial neuron projection bundle|cranial neuron projection bundle neuralgia|facial neuralgia	http://purl.obolibrary.org/obo/MONDO_0016374	A neuralgia that involves the cranial neuron projection bundle.	UMLS:C0010269|ORPHA:221109|SNOMEDCT:23096007
HGNC:14000	PRDM16	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14000		
MONDO:0004379	female breast carcinoma	biolink:Disease	mondo	DOID:7843|ICD9:174.9|DOID:0050671|UMLS:C0007104|ICD9:174.8|SCTID:447782002|SCTID:372064008|NCIT:C2918		female breast cancer|carcinoma of female breast|mammary carcinoma of the female breast|mammary carcinoma of female breast|female breast carcinoma|breast carcinoma, female|carcinoma of the female breast	http://purl.obolibrary.org/obo/MONDO_0004379	A carcinoma that arises from the breast in females. It is the most common malignant tumor that affects females.	DOID:7843|SNOMEDCT:372064008|NCIT:C2918|UMLS:C0007104|DOID:0050671|SNOMEDCT:447782002
MONDO:0004378	pediatric cerebral ependymoblastoma	biolink:Disease	mondo	UMLS:C1332962|DOID:7841|NCIT:C6957		childhood cerebral ependymoblastoma|childhood cerebral embryonal tumor with Multilayered Rosettes, C19MC-altered	http://purl.obolibrary.org/obo/MONDO_0004378	An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the cerebral hemispheres and occurs in children.	DOID:7841|UMLS:C1332962|NCIT:C6957
MONDO:0004375	end stage renal failure	biolink:Disease	mondo	COHD:193782|ICD9:585.6|SCTID:46177005|DOID:783|NCIT:C9439		ESRD, end stage renal disease|end stage renal disease (ESRD)|disease (ESRD), end stage renal|renal disease (ESRD), end stage|renal disease, end stage|end stage kidney disease|end stage renal disease|end stage kidney failure|chronic kidney disease, stage 5|ESRD	http://purl.obolibrary.org/obo/MONDO_0004375	Long-standing and persistent renal disease with glomerular filtration rate (GFR) less than 15 ml/min.	NCIT:C9439|DOID:783|SNOMEDCT:46177005
MONDO:0004374	adult extraskeletal osteosarcoma	biolink:Disease	mondo	NCIT:C7925|DOID:7827|UMLS:C0278985		extraosseous osteosarcoma of adults|adult extraosseous osteosarcoma|adult extraskeletal osteosarcoma|extraskeletal osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0004374	An osteosarcoma arising from the soft tissue, and occurring in adults.	UMLS:C0278985|NCIT:C7925|DOID:7827
MONDO:0004377	pancreatic non-functioning delta cell tumor	biolink:Disease	mondo	UMLS:C1335311|NCIT:C28333|DOID:7840		non-functional pancreatic Delta cell NET|non-functioning pancreatic Delta cell tumor|nonfunctional Pancreatic Delta cell Neuroendocrine tumor|non-functional pancreatic Delta cell neuroendocrine tumor|non-functioning pancreatic Delta cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0004377	A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It is not associated with a hormonal syndrome.	DOID:7840|NCIT:C28333|UMLS:C1335311
MONDO:0004376	infiltrating nipple syringomatous adenoma	biolink:Disease	mondo	NCIT:C40363|UMLS:C1518329|DOID:7839		infiltrating nipple syringomatous adenoma|nipple syringomatous adenoma	http://purl.obolibrary.org/obo/MONDO_0004376	An invasive, non-metastasizing neoplasm with sweat duct differentiation that arises in the area of the nipple. Local recurrences have been reported.	UMLS:C1518329|NCIT:C40363|DOID:7839
MONDO:0004371	spinal multifocal clear cell meningioma	biolink:Disease	mondo	NCIT:C5287|UMLS:C1336051|DOID:7824		spinal multifocal clear cell meningioma|multifocal clear cell meningioma of spine|multifocal clear cell meningioma of the spine	http://purl.obolibrary.org/obo/MONDO_0004371	A clear cell meningioma arising in multiple areas of the spinal cord characterized by the presence of clear glycogen-rich polygonal cells.	UMLS:C1336051|NCIT:C5287|DOID:7824
MONDO:0004370	sphenocavernous meningioma	biolink:Disease	mondo	DOID:7820|UMLS:C1336036|NCIT:C5313			http://purl.obolibrary.org/obo/MONDO_0004370	A meningioma that affects the sphenocavernous region.	UMLS:C1336036|NCIT:C5313|DOID:7820
MONDO:0004373	adult papillary meningioma	biolink:Disease	mondo	NCIT:C8293|UMLS:C0281334|DOID:7826		papillary meningioma|papillary meningioma of adults|adult papillary meningioma	http://purl.obolibrary.org/obo/MONDO_0004373	A papillary meningioma occurring in adults.	NCIT:C8293|UMLS:C0281334|DOID:7826
MONDO:0004372	chronic toxic polyneuropathy	biolink:Disease	mondo	NCIT:C35603|UMLS:C1333048|DOID:7825		chronic toxic polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0004372		UMLS:C1333048|DOID:7825|NCIT:C35603
MONDO:0016368	Rothmund-Thomson syndrome type 1	biolink:Disease	mondo	ICD10:Q82.8|Orphanet:221008|UMLS:CN201233|OMIM:618625	ordo_clinical_subtype	Poikiloderma Atrophicans and Cataract|poikiloderma of Rothmund-Thomson type 1|ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1|RTS1	http://purl.obolibrary.org/obo/MONDO_0016368	Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2, patients with RTS1 do not appear to have an increased risk of developing cancer.	UMLS:CN201233|http://identifiers.org/omim/618625|ORPHA:221008
MONDO:0016369	Rothmund-Thomson syndrome type 2	biolink:Disease	mondo	Orphanet:221016|UMLS:CN201234|OMIM:268400|ICD10:Q82.8	ordo_clinical_subtype	RTS2|poikiloderma of Rothmund-Thomson type 2	http://purl.obolibrary.org/obo/MONDO_0016369	Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.	UMLS:CN201234|http://identifiers.org/omim/268400|ORPHA:221016
HGNC:16636	KIF1B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16636		
MONDO:0016364	Joubert syndrome with ocular defect	biolink:Disease	mondo	GARD:0010168|ICD10:Q04.3|UMLS:C4274118|SCTID:716998009|Orphanet:220493|ICD10:H35.5|UMLS:CN201217	ordo_disease|gard_rare	JS-O|Joubert syndrome with ocular anomalies|JBTS3|Joubert syndrome with retinopathy|Joubert syndrome 3	http://purl.obolibrary.org/obo/MONDO_0016364	Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy.	UMLS:C4274118|ORPHA:220493|SNOMEDCT:716998009|UMLS:CN201217
MONDO:0016365	familial primary hyperparathyroidism	biolink:Disease	mondo	UMLS:CN201220|GARD:0002837|Orphanet:2207|ICD10:E21.0	ordo_group_of_disorders	hereditary primary hyperparathyroidism (disease)	http://purl.obolibrary.org/obo/MONDO_0016365	An instance of primary hyperparathyroidism (disease) that is caused by an inherited modification of the individual's genome.	ORPHA:2207|UMLS:CN201220
MONDO:0016366	maternal phenylketonuria	biolink:Disease	mondo	ICD10:E70.1|Orphanet:2209|GARD:0003413	ordo_malformation_syndrome	maternal hyperphenylalaninemia|maternal PKU|hyperphenylalaninemic embryopathy|phenylketonuric embryopathy	http://purl.obolibrary.org/obo/MONDO_0016366	Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.	ORPHA:2209|UMLS:C0085547
MONDO:0016367	dermatomyositis	biolink:Disease	mondo	Orphanet:221|NCIT:C26744|EFO:0000398|DOID:10223|ICD9:710.3|ICD10:M33|MESH:D003882|COHD:80182|ICD10:M33.90|ICD10:M33.9|MedDRA:10012503|ICD10:M33.1|SCTID:396230008|GARD:0006263|UMLS:C0011633|ICD10:M33.0	ordo_disease|gard_rare	dermatopolymyositis|DM|dermatomyositis|polymyositis with skin involvement|adult dermatomyositis|Amyopathic dermatomyositis	http://purl.obolibrary.org/obo/MONDO_0016367	Dermatomyositis (DM) is a type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness.	SNOMEDCT:396230008|ORPHA:221|UMLS:C0011633|DOID:10223|NCIT:C26744|MEDDRA:10012503|MESH:D003882
GO:0033267	obsolete axon part	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0033267	OBSOLETE. A part of an axon, a cell projection of a neuron.	
MONDO:0016360	marcothrombocytopenia with mitral valve insufficiency	biolink:Disease	mondo	ICD10:D69.4|Orphanet:220448	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016360	Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency.	ORPHA:220448
MONDO:0016361	isolated hereditary giant platelet disorder	biolink:Disease	mondo	ICD10:D69.1|Orphanet:220452|UMLS:CN226911	ordo_group_of_disorders	isolated inherited macrothrombocytopenia|isolated hereditary macrothrombocytopenia|isolated inherited giant platelet disorder	http://purl.obolibrary.org/obo/MONDO_0016361		UMLS:CN226911|ORPHA:220452
MONDO:0016362	attenuated familial adenomatous polyposis	biolink:Disease	mondo	NCIT:C6729|UMLS:C2674616|GARD:0008532|MESH:C538265|Orphanet:220460|SCTID:715866009|ICD10:D12.6	ordo_disease	AAPC|mild form of FAP|hereditary flat adenoma syndrome|AFAP|attenuated adenomatous polyposis coli|HFAS|attenuated familial polyposis coli|attenuated familial adenomatous polyposis|attenuated FAP	http://purl.obolibrary.org/obo/MONDO_0016362	Attenuated familial adenomatous polyposis (AFAP) is a mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer (CRC) onset and a more limited expression of the extracolonic features.	UMLS:C2674616|NCIT:C6729|SNOMEDCT:715866009|ORPHA:220460|MESH:C538265
MONDO:0016363	obsolete rare hereditary hemochromatosis	biolink:Disease	mondo	Orphanet:220489|SCTID:35400008	ordo_group_of_disorders|ordo_disease|obsoletion_candidate	iron overload disease|rare hereditary hemochromatosis	http://purl.obolibrary.org/obo/MONDO_0016363	Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease). Hemochromatosis type 1 (also called classic hemochromatosis) is not a rare disease.	ORPHA:220489|SNOMEDCT:35400008
MONDO:0004389	mite infestation	biolink:Disease	mondo	SCTID:240885009|ICD10:B88.9|DOID:7894|ICD9:133|UMLS:C0026229|ICD10:B88.0|MESH:D008924|ICD9:133.9			http://purl.obolibrary.org/obo/MONDO_0004389	Infestations with arthropods of the subclass acari, superorder Acariformes.	MESH:D008924|SNOMEDCT:240885009|DOID:7894|UMLS:C0026229
HGNC:28625	NDUFAF6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28625		
MONDO:0004386	uterine corpus atypical polypoid adenomyoma	biolink:Disease	mondo	UMLS:C1519844|DOID:7878|NCIT:C40235		body of uterus atypical polypoid adenomyoma|atypical polypoid adenomyoma of body of uterus	http://purl.obolibrary.org/obo/MONDO_0004386	An adenomyoma that arises from the uterine corpus and is characterized by the presence of marked glandular architectural complexity. It may recur following excision.	UMLS:C1519844|NCIT:C40235|DOID:7878
MONDO:0004385	adult xanthogranuloma	biolink:Disease	mondo	DOID:7875|UMLS:C1332220|NCIT:C27514		adult xanthogranuloma|xanthogranuloma of adults	http://purl.obolibrary.org/obo/MONDO_0004385	A xanthogranuloma that occurs in an adult.	NCIT:C27514|DOID:7875|UMLS:C1332220
MONDO:0004388	obsolete testicular spermatocytic seminoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004388		
MONDO:0004387	luteoma of pregnancy	biolink:Disease	mondo	MESH:D018311|UMLS:C1517842|NCIT:C40445|DOID:7880|UMLS:C0024167		luteoma|leuteoma of pregnancy	http://purl.obolibrary.org/obo/MONDO_0004387	A non-neoplastic and self-limited condition that occurs during pregnancy. It is characterized by proliferation of luteinized stromal cells that replace the normal ovarian stromal cells. It is usually manifested with bilateral multinodular ovarian masses. Treatment is not required.	UMLS:C0024167|MESH:D018311|UMLS:C1517842|NCIT:C40445|DOID:7880
MONDO:0004382	laryngeal disease	biolink:Disease	mondo	ICD9:478.70|DOID:786|MESH:D007818|UMLS:C0023051|NCIT:C26810|SCTID:60600009|ICD10:J38.7|ICD10:S12.8		laryngeal disease|larynx disease or disorder|disorder of the larynx|laryngeal disorder|disorder of larynx|disease of larynx|disease or disorder of larynx|disorder of larynx|larynx disease	http://purl.obolibrary.org/obo/MONDO_0004382	A non-neoplastic or neoplastic disorder that affects the larynx. Representative examples include laryngitis, vocal cord polyp, squamous papilloma, and carcinoma.	UMLS:C0023051|MESH:D007818|NCIT:C26810|SNOMEDCT:60600009|DOID:786
MONDO:0004381	pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia	biolink:Disease	mondo	NCIT:C41249|DOID:7851|UMLS:C1518868|SCTID:473418001|ICDO:8453/0		pancreatic intraductal papillary mucinous neoplasm with Low grade dysplasia|pancreatic intraductal papillary-mucinous neoplasm with Low grade dysplasia|pancreatic intraductal papillary-mucinous adenoma	http://purl.obolibrary.org/obo/MONDO_0004381	A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that form a single layer and are well polarized. The neoplastic cells exhibit small and uniform nuclei, mild pleomorphism, and rare mitotic figures.	UMLS:C1518868|NCIT:C41249|DOID:7851|SNOMEDCT:473418001
MONDO:0004384	maxillary sinus inverted papilloma	biolink:Disease	mondo	UMLS:C1334645|NCIT:C6840|DOID:7868		inverted papilloma of the maxillary sinus|inverted papilloma of maxillary sinus|maxillary sinus inverted papilloma	http://purl.obolibrary.org/obo/MONDO_0004384	A benign neoplasm that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma.	NCIT:C6840|UMLS:C1334645|DOID:7868
MONDO:0004383	adult central nervous system germinoma	biolink:Disease	mondo	UMLS:C1370504|DOID:7867|NCIT:C5792		Central nervous system germinoma|central nervous system germinoma of adults|germinoma of adult central nervous system|germinoma of the adult central nervous system|adult CNS germinoma|germinoma of the adult CNS|germinoma of adult CNS|adult central nervous system germinoma	http://purl.obolibrary.org/obo/MONDO_0004383	A central nervous system germinoma that occurs in an adult.	UMLS:C1370504|NCIT:C5792|DOID:7867
MONDO:0004380	dendritic cell sarcoma	biolink:Disease	mondo	ONCOTREE:DCS|DOID:7849|NCIT:C27260|SCTID:446643000		Dendritic cell sarcoma|follicular dendritic cell sarcoma|Dendritic cell tumor, not otherwise specified|dendritic cell sarcoma|Dendritic cell sarcoma, not otherwise specified (morphologic abnormality)|sarcoma of dendritic cell|Dendritic cell sarcoma, not otherwise specified|Dendritic cell tumor, NOS|Dendritic cell sarcoma, NOS	http://purl.obolibrary.org/obo/MONDO_0004380	A sarcoma that involves the dendritic cell.	NCIT:C27260|SNOMEDCT:446643000|DOID:7849
MONDO:0016357	dysplastic cortical hyperostosis	biolink:Disease	mondo	Orphanet:2204|GARD:0002022|ICD10:M89.8|UMLS:CN201209	ordo_malformation_syndrome|gard_rare	Kozlowski-Tsuruta syndrome	http://purl.obolibrary.org/obo/MONDO_0016357		ORPHA:2204|UMLS:CN201209
MONDO:0016358	limited cutaneous systemic sclerosis	biolink:Disease	mondo	SCTID:298285004|Orphanet:220402|GARD:0001053|ICD10:M34.1	ordo_clinical_subtype	limited cutaneous systemic scleroderma	http://purl.obolibrary.org/obo/MONDO_0016358	Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms.	SNOMEDCT:298285004|ORPHA:220402
MONDO:0016359	limited systemic sclerosis	biolink:Disease	mondo	NCIT:C116789|UMLS:C1290138|GARD:0009749|ICD10:M34.0|Orphanet:220407|SCTID:128461001	ordo_clinical_subtype	SSC without skin involvement|systemic sclerosis sine scleroderma|progressive systemic sclerosis sine scleroderma|Scleroderma, sine|systemic sclerosis without skin involvement	http://purl.obolibrary.org/obo/MONDO_0016359	Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc) characterized by organ involvement in the absence of fibrosis of the skin.	NCIT:C116789|UMLS:C1290138|SNOMEDCT:128461001|ORPHA:220407
MONDO:0016353	palmoplantar keratoderma-spastic paralysis syndrome	biolink:Disease	mondo	Orphanet:2201|MESH:C538358|GARD:0003095	ordo_disease	Powell-Venencie-Gordon syndrome|palmoplantar hyperkeratosis-spastic paralysis syndrome|keratoderma palmoplantar spastic paralysis	http://purl.obolibrary.org/obo/MONDO_0016353		UMLS:C1835671|ORPHA:2201|MESH:C538358
MONDO:0016354	xeroderma pigmentosum-Cockayne syndrome complex	biolink:Disease	mondo	ICD10:Q82.1|Orphanet:220295|ICD10:Q87.1|UMLS:CN201205	ordo_disease	XP/CS complex	http://purl.obolibrary.org/obo/MONDO_0016354	Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS).	UMLS:CN201205|ORPHA:220295
NCBITaxon:297308	Ixodoidea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_297308		
MONDO:0016355	semilobar holoprosencephaly	biolink:Disease	mondo	Orphanet:220386|ICD10:Q04.2	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0016355	Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.	UMLS:C0751617|ORPHA:220386
HGNC:16644	IFITM5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16644		
MONDO:0016356	diffuse cutaneous systemic sclerosis	biolink:Disease	mondo	ICD10:M34.0|NCIT:C116791|Orphanet:220393|GARD:0009751	ordo_clinical_subtype|gard_rare	diffuse cutaneous systemic scleroderma|progressive cutaneous systemic sclerosis|dSSc|progressive cutaneous systemic scleroderma|DcSSc	http://purl.obolibrary.org/obo/MONDO_0016356	Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).	NCIT:C116791|ORPHA:220393
MONDO:0016350	hydrocephalus-blue sclerae-nephropathy syndrome	biolink:Disease	mondo	ICD10:Q87.8|Orphanet:2186	ordo_malformation_syndrome	Daentl-Townsend-Siegel syndrome	http://purl.obolibrary.org/obo/MONDO_0016350	Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978.	UMLS:C2931014|ORPHA:2186
MONDO:0016351	anti-HLA hyperimmunization	biolink:Disease	mondo	GARD:0000730|UMLS:CN201194|Orphanet:2194	gard_rare|ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016351	Anti-HLA hyperimmunization is an increase in anti-HLA antigens mostly seen in chronic renal failure (CRF) patients that have undergone hemodialysis and polytransfusion.	ORPHA:2194|UMLS:CN201194
MONDO:0016352	idiopathic inherited hypercalciuria	biolink:Disease	mondo	Orphanet:2197|ICD10:E83.5	ordo_disease	idiopathic hypercalciuria	http://purl.obolibrary.org/obo/MONDO_0016352		ORPHA:2197
MONDO:0006936	pulmonary valve stenosis	biolink:Disease	mondo	EFO:1001138|DOID:6420|MESH:D011666|MedDRA:10037450			http://purl.obolibrary.org/obo/MONDO_0006936	The pathologic narrowing of the orifice of the pulmonary valve. This lesion restricts blood outflow from the right ventricle to the pulmonary artery. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete.	DOID:6420|MESH:D011666
MONDO:0006937	pulpitis	biolink:Disease	mondo	DOID:11121|UMLS:C0034103|ICD9:522.0|ICD10:K04.0|SCTID:32620007|COHD:437589|MESH:D011671|MedDRA:10037463|EFO:1001139		inflammation of dental pulp|dental pulp inflammation	http://purl.obolibrary.org/obo/MONDO_0006937	Inflammation of the dental pulp.	SNOMEDCT:32620007|NCIT:C52595|MESH:D011671|UMLS:C0034103|DOID:11121
MONDO:0006934		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006934		
MONDO:0006935	pulmonary subvalvular stenosis	biolink:Disease	mondo	EFO:1001137|MESH:D011662|NCIT:C34961|ICD9:746.83|DOID:8861|ICD10:Q24.3|SCTID:204370002		pulmonary infundibular stenosis|congenital infundibular stenosis|subvalvular pulmonic stenosis|infundibular pulmonic stenosis|infundibular pulmonic stenosis, congenital	http://purl.obolibrary.org/obo/MONDO_0006935	The obstruction of the right ventricular outflow tract that originates within the body of the right ventricle, that exists at the time of birth; it often occurs in association with other intracardiac anomalies.	NCIT:C34961|MESH:D011662|SNOMEDCT:204370002|DOID:8861
MONDO:0006932	pulmonary edema	biolink:Disease	mondo	EFO:1001134|DOID:11396|UMLS:C0034063|ICD10:J81.1|MedDRA:10037375|ICD10:J81|NCIT:C26868|MESH:D011654|SCTID:19242006		edema, pulmonary	http://purl.obolibrary.org/obo/MONDO_0006932	Accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure. It is caused by direct injury to the lung parenchyma or congestive heart failure. The symptoms may appear suddenly or gradually. Suddenly appearing symptoms include difficulty breathing, feeling of suffocation, and coughing associated with frothy sputum. Gradually appearing symptoms include difficulty breathing while lying in bed, shortness of breath during activity, and weight gain (in patients with congestive heart failure).	MESH:D011654|UMLS:C0034063|DOID:11396|NCIT:C26868|SNOMEDCT:19242006
MONDO:0006933	pulmonary plasma cell granuloma	biolink:Disease	mondo	EFO:1001135|UMLS:C0085269|SCTID:1648002|MESH:D016726|ICD9:518.89|DOID:3677		granuloma, plasma cell, pulmonary|lymphocytic pseudotumor of lung|sclerosing hemangiocytoma of lung	http://purl.obolibrary.org/obo/MONDO_0006933	A tumor-like inflammatory lesion of the lung that is composed of plasma cells and fibrous tissue. It is also known as an inflammatory pseudotumor, often with calcification and measuring between 2 and 5 cm in diameter.	DOID:3677|MESH:D016726|SNOMEDCT:1648002|UMLS:C0085269
MONDO:0006930	pseudobulbar palsy	biolink:Disease	mondo	MESH:D020828|MedDRA:10037114|SCTID:7379000|EFO:1001131|DOID:12680|NCIT:C129934|COHD:373190|ICD9:335.23|UMLS:C0033790		pseudobulbar paralysis|pseudobulbar palsy	http://purl.obolibrary.org/obo/MONDO_0006930	A condition affecting cranial nerves IX-XII resulting from upper motor neuron damage arising from a variety of causes.	NCIT:C129934|DOID:12680|UMLS:C0033790|MESH:D020828|SNOMEDCT:7379000
HGNC:1975	VSX2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1975		
MONDO:0006931	pulmonary coin lesion	biolink:Disease	mondo	EFO:1001133|DOID:5364|ICD10:R91.1|MESH:D003074|UMLS:C0009250		coin lesion of lung (context-dependent category)|coin lesion of lung|coin lesion lung|coin lesion of lung (finding)	http://purl.obolibrary.org/obo/MONDO_0006931	A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the chest wall, or the pleura.	DOID:5364|MESH:D003074|UMLS:C0009250
MONDO:0018918	carcinoma of gallbladder and extrahepatic biliary tract	biolink:Disease	mondo	Orphanet:56044|MedDRA:10007426|UMLS:CN205299	ordo_group_of_disorders	carcinoma of gallbladder and EBT	http://purl.obolibrary.org/obo/MONDO_0018918	Carcinoma of the gallbladder (GBC) is the most common and aggressive form of biliary tract cancer (BTC) usually arising in the fundus of the gallbladder, rapidly metastasizing to lymph nodes and distant sites.	MEDDRA:10007426|ORPHA:56044|UMLS:C0235782|UMLS:CN205299
MONDO:0018917	obsolete Marfan syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018917		
MONDO:0018919	McCune-Albright syndrome	biolink:Disease	mondo	GARD:0006995|OMIM:174800|ICD10:Q78.1|UMLS:C0016065|NCIT:C48627|Orphanet:562|SCTID:726029005|DOID:1858|UMLS:C0242292	ordo_disease	MAS|gonadotropin-independent female-limited sexual precocity|polyostotic fibrous dysplasia|PFD|POFD|McCune Albright syndrome|Albright's disease	http://purl.obolibrary.org/obo/MONDO_0018919	McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafC)-au-lait skin spots, and precocious puberty (PP).	http://identifiers.org/omim/174800|UMLS:C0242292|NCIT:C48627|ORPHA:562|SNOMEDCT:726029005|MESH:D005359|UMLS:C0016065|DOID:1858
MONDO:0018925	familial or sporadic hemiplegic migraine	biolink:Disease	mondo	ICD9:346.30|ICD10:G43.1|Orphanet:569|GARD:0010768|SCTID:59292006	gard_rare|ordo_disease	hemiplegic migraine	http://purl.obolibrary.org/obo/MONDO_0018925	Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM).	ORPHA:569|SNOMEDCT:59292006
UBERON:0003571	trachea connective tissue	biolink:AnatomicalEntity	mondo			connective tissue of windpipe|connective tissue of trachea	http://purl.obolibrary.org/obo/UBERON_0003571	A portion of connective tissue that is part of a trachea.	
MONDO:0018924	microphthalmia, Lenz type	biolink:Disease	mondo	Orphanet:568|GARD:0000087|ICD10:Q11.2	ordo_malformation_syndrome|gard_rare	MAA (formerly)|microphthalmia or anophthalmos with associated anomalies (formerly)|microphthalmia Lenz type|syndromic microphthalmia type 1|MCOPS1|Lenz microphthamia syndrome|Lenz dysplasia|microphthalmia syndromic 1|Lenz microphthalmia	http://purl.obolibrary.org/obo/MONDO_0018924	Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome.	ORPHA:568|UMLS:C0796016
UBERON:0003572	chest connective tissue	biolink:AnatomicalEntity	mondo			connective tissue of anterior thoracic region|anterolateral part of thorax portion of connective tissue|portion of connective tissue of anterior thoracic region|textus connectivus of chest|front of thorax portion of connective tissue|anterior thoracic region textus connectivus|front of thorax connective tissue|textus connectivus of front of thorax|textus connectivus of anterolateral part of thorax|chest portion of connective tissue|anterolateral part of thorax connective tissue|anterolateral part of thorax textus connectivus|textus connectivus of anterior thoracic region|connective tissue of chest|portion of connective tissue of chest|portion of connective tissue of front of thorax|anterior thoracic region connective tissue|front of thorax textus connectivus|connective tissue of front of thorax|chest textus connectivus|portion of connective tissue of anterolateral part of thorax|connective tissue of anterolateral part of thorax|anterior thoracic region portion of connective tissue	http://purl.obolibrary.org/obo/UBERON_0003572	A portion of connective tissue that is part of a chest [Automatically generated definition].	
MONDO:0018927	SUNCT syndrome	biolink:Disease	mondo	NCIT:C85174|MESH:D050798|UMLS:C1262087|SCTID:725058003|ICD10:G44.8|MedDRA:10061981|Orphanet:57145|GARD:0009257	ordo_disease	short-lasting, unilateral, neuralgiform headache attacks with conjunctival injection and tearing|short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing|SUNCT headache	http://purl.obolibrary.org/obo/MONDO_0018927	SUNCT syndrome (Short-lasting Unilateral Neuralgiform headache attacks with Conjunctival injection and Tearing) is a primary headache disorder characterized by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing).	ORPHA:57145|SNOMEDCT:725058003|NCIT:C85174|UMLS:C1262087|MEDDRA:10061981|MESH:D050798
UBERON:0003570	respiratory system connective tissue	biolink:AnatomicalEntity	mondo			apparatus respiratorius textus connectivus|connective tissue of respiratory system|portion of connective tissue of respiratory system|textus connectivus of apparatus respiratorius|apparatus respiratorius connective tissue|respiratory system portion of connective tissue|textus connectivus of respiratory system|apparatus respiratorius portion of connective tissue|portion of connective tissue of apparatus respiratorius|respiratory system textus connectivus|connective tissue of apparatus respiratorius	http://purl.obolibrary.org/obo/UBERON_0003570	A portion of connective tissue that is part of a respiratory system [Automatically generated definition].	
MONDO:0018926	human prion disease	biolink:Disease	mondo	ICD10:A81.0|ICD10:A81.9|Orphanet:56970|ICD10:A81.8|ICD10:A81.1	ordo_group_of_disorders	TSE|transmissible spongiform encephalopathy	http://purl.obolibrary.org/obo/MONDO_0018926	Prion diseases are a group of rare transmissible disorders characterized by progressive debilitating neurological manifestations due to spongiform changes with an invariably fatal course. The disorders all involve accumulation of an abnormal prion protein in the central nervous system with no specific immunological response. Sporadic Creutzfeldt-Jakob disease (CJD) is the most frequent form accounting for about 85% of prion disease cases. The other forms of prion disease are genetic (5-15%) and include inherited CJD, fatal familial insomnia (FFI), and Familial Alzheimer-like prion disease. Acquired forms (< 5%) include iatrogenic CJD and variant CJD (vCDJ).	ORPHA:56970
MONDO:0018921	Meckel syndrome	biolink:Disease	mondo	NCIT:C98978|ICD9:753.10|OMIMPS:249000|ICD9:759.89|ICD10:Q61.9|ICD9:753.1|UMLS:C0265215|GARD:0003436|DOID:0050778|Orphanet:564|SCTID:29076005	ordo_malformation_syndrome	Meckel-Gruber syndrome	http://purl.obolibrary.org/obo/MONDO_0018921	Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.	UMLS:C0265215|ORPHA:564|DOID:0050778|NCIT:C98978|SNOMEDCT:29076005
MONDO:0018920	peripartum cardiomyopathy	biolink:Disease	mondo	GARD:0000220|MedDRA:10049430|Orphanet:563|DOID:9997|EFO:0002628|ICD10:O90.3|COHD:312383|ICD9:674.54|ICD9:674.5|SCTID:62377009|UMLS:C0269972	ordo_disease|gard_rare	postpartum cardiomyopathy|postpartum peripartum cardiomyopathy|antepartum peripartum cardiomyopathy|peripartum cardiomyopathy|Meadows' syndrome	http://purl.obolibrary.org/obo/MONDO_0018920	Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery.	ORPHA:563|SNOMEDCT:62377009|UMLS:C0877208|DOID:9997|UMLS:C0269972|MEDDRA:10049430
MONDO:0018923	22q11.2 deletion syndrome	biolink:Disease	mondo	MedDRA:10066430|Orphanet:567|ICD10:D82.1|MedDRA:10012979|GARD:0010299	ordo_malformation_syndrome	conotruncal anomaly face syndrome|22q11DS|DiGeorge sequence|Cayler cardiofacial syndrome|DiGeorge syndrome|monosomy 22q11|velocardiofacial syndrome|microdeletion 22q11.2|Sedlackova syndrome|Shprintzen syndrome|catch 22|VCFS|Takao syndrome	http://purl.obolibrary.org/obo/MONDO_0018923	22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.	UMLS:C0795907|UMLS:C3266101|UMLS:C0012236|ORPHA:567|MESH:D058165|UMLS:C0220704|MEDDRA:10066430|MEDDRA:10012979|UMLS:C2936346
MONDO:0018922	cold agglutinin disease	biolink:Disease	mondo	UMLS:CN205305|Orphanet:56425|SCTID:127055007|UMLS:C1264008|GARD:0006130|ICD10:D59.1	ordo_disease	chronic cold agglutinin disease|CAS|cold agglutinin syndrome|cold antibody disease|cold antibody hemolytic anemia|anemia, hemolytic, cold antibody|CAD	http://purl.obolibrary.org/obo/MONDO_0018922	Cold agglutinin disease is a type of autoimmune hemolytic anemia defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C).	ORPHA:56425|UMLS:C1264008|SNOMEDCT:127055007|UMLS:CN205305
HGNC:1984	CISH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1984		
UBERON:0003579	shoulder connective tissue	biolink:AnatomicalEntity	mondo			textus connectivus of shoulder|shoulder portion of connective tissue|portion of connective tissue of shoulder|shoulder textus connectivus|connective tissue of shoulder	http://purl.obolibrary.org/obo/UBERON_0003579	A portion of connective tissue that is part of a shoulder [Automatically generated definition].	
HGNC:1985	CIT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1985		
UBERON:0003577	knee connective tissue	biolink:AnatomicalEntity	mondo			knee portion of connective tissue|connective tissue of knee	http://purl.obolibrary.org/obo/UBERON_0003577	A portion of connective tissue that is part of a knee [Automatically generated definition].	
UBERON:0003578	pedal digit connective tissue	biolink:AnatomicalEntity	mondo			digitus pedis textus connectivus|connective tissue of foot digit|connective tissue of toe|foot digit connective tissue|connective tissue of digitus pedis|connective tissue of digit of foot|foot digit connective tissue|hind limb digit connective tissue	http://purl.obolibrary.org/obo/UBERON_0003578	A portion of connective tissue that is part of a toe [Automatically generated definition].	
HGNC:1983	UTP4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1983		
MONDO:0006929	Proteus infectious disease	biolink:Disease	mondo	SCTID:186437007|EFO:1001130|UMLS:C0033700|MESH:D011512		infection, Proteus|Proteus <enterobacteria> disease or disorder|Proteus infection|Proteus <enterobacteria> infectious disease|Proteus <enterobacteria> caused disease or disorder|infections, Proteus	http://purl.obolibrary.org/obo/MONDO_0006929	Infections with bacteria of the genus proteus.	UMLS:C0033700|MESH:D011512|SNOMEDCT:186437007
UBERON:0003575	wrist connective tissue	biolink:AnatomicalEntity	mondo			carpal region connective tissue|connective tissue of wrist|connective tissue of carpal region	http://purl.obolibrary.org/obo/UBERON_0003575	A portion of connective tissue that is part of a wrist [Automatically generated definition].	
HGNC:1980	CILP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1980		
UBERON:0003576	hip connective tissue	biolink:AnatomicalEntity	mondo			connective tissue of regio coxae|connective tissue of hip region|connective tissue of hip	http://purl.obolibrary.org/obo/UBERON_0003576	A portion of connective tissue that is part of a hip [Automatically generated definition].	
MONDO:0006927	Rickettsiaceae infectious disease	biolink:Disease	mondo	EFO:1001128|MESH:D012288		infections, Rickettsiaceae|Rickettsiaceae disease or disorder|Rickettsiaceae infection|Rickettsiaceae caused disease or disorder|infection, Rickettsiaceae|rickettsialpox	http://purl.obolibrary.org/obo/MONDO_0006927	Infections with bacteria of the family rickettsiaceae.	MESH:D012288
UBERON:0003573	arm connective tissue	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0003573	A portion of connective tissue that is part of an arm [Automatically generated definition].	
MONDO:0006928	proliferative vitreoretinopathy	biolink:Disease	mondo	EFO:1001129|MESH:D018630|UMLS:C0242852|DOID:9719|MedDRA:10057896		retinitis proliferans	http://purl.obolibrary.org/obo/MONDO_0006928	Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes.	UMLS:C0242852|MESH:D018630|DOID:9719
UBERON:0003574	elbow connective tissue	biolink:AnatomicalEntity	mondo			textus connectivus of cubital region|connective tissue of elbow|connective tissue of cubital region	http://purl.obolibrary.org/obo/UBERON_0003574	A portion of connective tissue that is part of a elbow [Automatically generated definition].	
MONDO:0006947	renovascular hypertension (disease)	biolink:Disease	mondo	EFO:1001153|DOID:1591|UMLS:C0020545|SCTID:123799005|ICD9:405.91|ICD10:I15.0|COHD:317895|HP:0100817		renovascular hypertension	http://purl.obolibrary.org/obo/MONDO_0006947	High blood pressure secondary to renal artery stenosis.	NCIT:C85044|SNOMEDCT:123799005|DOID:1591|UMLS:C0020545
MONDO:0006948	retinal artery occlusion	biolink:Disease	mondo	SCTID:232035005|UMLS:C0035302|MESH:D015356|EFO:1001154|NCIT:C34978|DOID:8483|MedDRA:10038827			http://purl.obolibrary.org/obo/MONDO_0006948	An occlusion of the retinal artery.	SNOMEDCT:232035005|NCIT:C34978|UMLS:C0035302|DOID:8483|MESH:D015356
MONDO:0006945	renal artery obstruction	biolink:Disease	mondo	MESH:D012078|ICD10:N28.0|DOID:2972|EFO:1001150|UMLS:C0035066			http://purl.obolibrary.org/obo/MONDO_0006945	Narrowing or occlusion of the renal artery or arteries. It is due usually to atherosclerosis; fibromuscular dysplasia; thrombosis; embolism, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (hypertension, renovascular).	MESH:D012078|UMLS:C0035066|DOID:2972
MONDO:0006946	renal osteodystrophy	biolink:Disease	mondo	MedDRA:10038489|SCTID:16726004|EFO:1001152|UMLS:C0035086|ICD10:N25.0|DOID:13068|ICD9:588.0|GARD:0007551|COHD:197921|MESH:D012080		Osteodystrophies, renal|osteodystrophy, renal|rickets, renal|renal Osteodystrophies|renal rickets	http://purl.obolibrary.org/obo/MONDO_0006946	Abnormalities of bone mineral metabolism associated with chronic kidney disease.	MESH:D012080|DOID:13068|UMLS:C0035086|SNOMEDCT:16726004|NCIT:C114827
MONDO:0006943	obsolete relapsing polychondritis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006943		
MONDO:0006944	renal aminoaciduria	biolink:Disease	mondo	MESH:D000608|MedDRA:10001939|SCTID:35912001|EFO:1001149			http://purl.obolibrary.org/obo/MONDO_0006944	A group of inherited kidney disorders characterized by the abnormally elevated levels of amino acids in urine. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the proximal renal tubules. Renal aminoaciduria are classified by the specific amino acid or acids involved.	MESH:D000608|SNOMEDCT:35912001
MONDO:0006941	rat-bite fever	biolink:Disease	mondo	EFO:1001144|UMLS:C0034686|ICD10:A25.1|GARD:0009557|ICD10:A25.0|MedDRA:10037904|SCTID:1685005|COHD:433690|MESH:D011906|NCIT:C34971|ICD9:026.9|ICD10:A25.9|Orphanet:31205	gard_rare|ordo_disease	spirillosis|rat bite fever|Streptobacillosis	http://purl.obolibrary.org/obo/MONDO_0006941	An infectious disease that is caused transmitted by the bite of a rat. Two species of bacteria can cause the infection: Streptobacillus moniliformis and Spirillum minus.	NCIT:C34971|SNOMEDCT:1685005|MESH:D011906|UMLS:C0034686|MEDDRA:10037904|ORPHA:31205
UBERON:0003559	hindbrain arachnoid mater	biolink:AnatomicalEntity	mondo			hindbrain arachnoid|hindbrain arachnoid mater of neuraxis|arachnoid mater of neuraxis of hindbrain|arachnoid mater of hindbrain|arachnoid of hindbrain|rhombencephalon arachnoid mater	http://purl.obolibrary.org/obo/UBERON_0003559	An arachnoid mater that is part of a hindbrain [Automatically generated definition].	
MONDO:0006942	obsolete reflex epilepsy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006942		
HGNC:1987	CITED2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1987		
MONDO:0006940	radial nerve lesion	biolink:Disease	mondo	ICD10:G56.3|EFO:1001143|UMLS:C0154744|ICD9:354.3|MedDRA:10061477|DOID:12170|COHD:141004|ICD10:G56.30|SCTID:193137006		lesion of radial nerve, NOS|radial nerve lesions|peripheral nerve lesion of radial nerve|lesion of radial nerve|radial nerve peripheral nerve lesion	http://purl.obolibrary.org/obo/MONDO_0006940	A peripheral nerve lesion that involves the radial nerve.	DOID:12170|SNOMEDCT:193137006|UMLS:C0154744
MONDO:0018907	craniopharyngioma	biolink:Disease	mondo	ICD9:237.0|UMLS:C0010276|MESH:D003397|GARD:0010486|ICD10:D44.4|ICDO:9350/1|DOID:3840|SCTID:189179009|MedDRA:10011318|EFO:1000209|NCIT:C2964|Orphanet:54595	ordo_disease	craniopharyngioma (WHO grade I)|Adamantinomatous tumor|Rathke's pouch tumor|neoplasm of Rathke's pouch|Rathke's pouch neoplasm|Dysodontogenic epithelial tumor|Rathke pouch neoplasm|craniopharyngioma (morphologic abnormality)|craniopharyngeal duct tumor|tumor of Rathke's pouch|cystoma|craniopharyngioma, benign|Rathke pouch tumor	http://purl.obolibrary.org/obo/MONDO_0018907	A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO)	MESH:D003397|MEDDRA:10011318|NCIT:C2964|UMLS:C0010276|ORPHA:54595|DOID:3840|SNOMEDCT:189179009
MONDO:0018906	follicular lymphoma	biolink:Disease	mondo	ICD10:C82.9|UMLS:C0024301|MESH:D008224|ONCOTREE:FL|ICD10:C82.7|ICD10:C82.6|ICD10:C82.5|DOID:0050873|ICDO:9690/3|ICD10:C82.4|GARD:0002356|ICD10:C82.3|NCIT:C3209|Orphanet:545|ICD10:C82.2|ICD10:C82.1|SCTID:308121000|ICD10:C82.0|HGNC:990	ordo_disease|gard_rare	follicle center lymphoma|lymphoma, follicular|lymphoma, follicular, malignant|lymphoma, follicular centre cell|follicular non-Hodgkin's lymphoma|follicular non-Hodgkin lymphoma|follicular centre cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0018906	Follicular lymphoma is a form of non-Hodgkin lymphoma characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved.	NCIT:C3209|SNOMEDCT:308121000|MESH:D008224|ORPHA:545|UMLS:C0024301|DOID:0050873
MONDO:0018909	obsolete legionellosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018909		
MONDO:0018908	non-Hodgkin lymphoma	biolink:Disease	mondo	NCIT:C3211|ICDO:9591/3|MESH:D008228|MedDRA:10029547|UMLS:C0024305|Orphanet:547|EFO:0005952|DOID:0060060|ONCOTREE:NHL	ordo_group_of_disorders	NHL|non-Hodgkins lymphoma|non-Hodgkin's lymphoma|non-Hodgkin's lymphoma (NHL)|non-Hodgkin lymphoma|NHL, NOS|non-Hodgkin lymphoma, NOS	http://purl.obolibrary.org/obo/MONDO_0018908	Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage.	NCIT:C3211|MESH:D008228|ORPHA:547|UMLS:C0024305|DOID:0060060|MEDDRA:10029547
UBERON:0003560	spinal cord arachnoid mater	biolink:AnatomicalEntity	mondo			arachnoid mater of neuraxis of spinal cord|arachnoid mater of spinal cord|arachnoid of spinal cord|spinal cord arachnoid|spinal cord arachnoid mater of neuraxis	http://purl.obolibrary.org/obo/UBERON_0003560	An arachnoid mater that is part of a spinal cord [Automatically generated definition].	
MONDO:0018914	hypotrichosis simplex	biolink:Disease	mondo	UMLS:C1854310|GARD:0009170|SCTID:723362004|Orphanet:55654|ICD10:L65.8|MESH:C537160	ordo_disease	hereditary hypotrichosis simplex	http://purl.obolibrary.org/obo/MONDO_0018914	Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies.	MESH:C537160|SNOMEDCT:723362004|ORPHA:55654|UMLS:C1854310
HGNC:16628	SLC49A4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16628		
MONDO:0018913	malakoplakia	biolink:Disease	mondo	NCIT:C84833|Orphanet:556|EFO:1001807|SCTID:716766007|MESH:D008287|GARD:0006960	ordo_disease|gard_rare	malacoplakia	http://purl.obolibrary.org/obo/MONDO_0018913	Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body.	MESH:D008287|ORPHA:556|SNOMEDCT:716766007|NCIT:C84833
HGNC:16627	CHEK2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16627		
UBERON:0003561	forebrain dura mater	biolink:AnatomicalEntity	mondo			dura mater of neuraxis of forebrain|dura mater of forebrain|forebrain dura mater of neuraxis	http://purl.obolibrary.org/obo/UBERON_0003561	A dura mater that is part of a forebrain.	
MONDO:0018916	isolated anorectal malformation	biolink:Disease	mondo	Orphanet:557|ICD10:Q42.3|ICD10:Q42.2|ICD10:Q42.1|ICD10:Q42.0	ordo_morphological_anomaly	nonsyndromic anorectal malformation	http://purl.obolibrary.org/obo/MONDO_0018916	Anorectal malformations (ARM) comprise a wide spectrum of malformations involving the distal anus and rectum as well as the urinary and genital tracts, which can affect boys and girls.	ORPHA:557
MONDO:0018915	obsolete pneumococcal meningitis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018915		
MONDO:0018910	oculocutaneous albinism	biolink:Disease	mondo	Orphanet:55|UMLS:C0078918|DOID:0050632|ICD9:270.2|OMIMPS:203100|NCIT:C84941|GARD:0010958|ICD10:E70.3|MESH:D016115|SCTID:63844009	gard_rare|ordo_group_of_disorders	non-syndromic oculocutaneous albinism|albinism, oculocutaneous|OCA|nonsyndromic oculocutaneous albinism	http://purl.obolibrary.org/obo/MONDO_0018910	Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7.	DOID:0050632|UMLS:C0078918|ORPHA:55|MESH:D016115|NCIT:C84941|SNOMEDCT:63844009
MONDO:0018912	Cushing syndrome	biolink:Disease	mondo	MedDRA:10020562|MedDRA:10011652|ICD9:255.0|ICD10:E24.8|ICD10:E24.9|GARD:0006224|ICD10:E24.4|ICD10:E24.3|ICD10:E24.2|EFO:0003099|ICD10:E24.1|NCIT:C2969|Orphanet:553|ICD10:E24|ICD10:E24.0|UMLS:C0010481|MedDRA:10020610|MESH:D003480|MedDRA:10020564	ordo_group_of_disorders	ectopic adrenocorticotropic hormone syndrome|suprarenogenic syndrome|cortisol Excess|Cushing syndrome|nodular primary adrenocortical dysplasia|adrenal hyperfunction resulting from pituitary ACTH excess|Cushing's syndrome|pituitary basophilism|hyperadrenocorticism|hypercortisolism	http://purl.obolibrary.org/obo/MONDO_0018912	Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin.	MEDDRA:10011652|UMLS:C0001622|MESH:D000308|NCIT:C2969|ORPHA:553|MEDDRA:10020564|MEDDRA:10020562|MEDDRA:10020610|UMLS:C0010481|MESH:D003480
MONDO:0018911	maturity-onset diabetes of the young (disease)	biolink:Disease	mondo	SCTID:609561005|KEGG:04950|DOID:0050524|HP:0004904|MESH:C562772|Orphanet:552|OMIM:606391|GARD:0003697|NCIT:C114769|ICD10:E11.9|UMLS:C0342276|ICD10:E11.8	ordo_disease	MODY|maturity-onset diabetes of the young|Mason type diabetes|maturity-onset diabetes of the young; MODY|Mason-type diabetes|maturity onset diabetes of the young	http://purl.obolibrary.org/obo/MONDO_0018911	MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.	ORPHA:552|DOID:0050524|UMLS:C0342276|http://identifiers.org/omim/606391|NCIT:C114769|SNOMEDCT:609561005|MESH:C562772
UBERON:0003568	neck connective tissue	biolink:AnatomicalEntity	mondo			neck (volume) portion of connective tissue|neck (volume) connective tissue|portion of connective tissue of neck|connective tissue of neck|textus connectivus of neck (volume)|textus connectivus of neck|connective tissue of neck (volume)|neck (volume) textus connectivus|neck portion of connective tissue|portion of connective tissue of neck (volume)|neck textus connectivus	http://purl.obolibrary.org/obo/UBERON_0003568	A portion of connective tissue that is part of a neck [Automatically generated definition].	
UBERON:0003569	leg connective tissue	biolink:AnatomicalEntity	mondo			connective tissue of leg|portion of connective tissue of leg|leg portion of connective tissue|textus connectivus of leg|leg textus connectivus	http://purl.obolibrary.org/obo/UBERON_0003569	A portion of connective tissue that is part of a leg [Automatically generated definition].	
UBERON:0003566	head connective tissue	biolink:AnatomicalEntity	mondo			textus connectivus of adult head|adult head connective tissue|adult head textus connectivus|textus connectivus of head|head portion of connective tissue|portion of connective tissue of adult head|connective tissue of adult head|adult head portion of connective tissue|connective tissue of head|head textus connectivus|portion of connective tissue of head	http://purl.obolibrary.org/obo/UBERON_0003566	A portion of connective tissue that is part of a head [Automatically generated definition].	
UBERON:0003567	abdomen connective tissue	biolink:AnatomicalEntity	mondo			abdomen portion of connective tissue|connective tissue of abdomen|portion of connective tissue of abdomen|abdomen textus connectivus|textus connectivus of abdomen	http://purl.obolibrary.org/obo/UBERON_0003567	A portion of connective tissue that is part of an abdomen [Automatically generated definition].	
UBERON:0003564	diencephalon dura mater	biolink:AnatomicalEntity	mondo			dura mater of neuraxis of interbrain|between brain dura mater of neuraxis|dura mater of neuraxis of between brain|diencephalon dura mater of neuraxis|dura mater of between brain|dura mater of diencephalon|dura mater of neuraxis of diencephalon|dura mater of neuraxis of mature diencephalon|dura mater of mature diencephalon|interbrain dura mater|mature diencephalon dura mater|mature diencephalon dura mater of neuraxis|interbrain dura mater of neuraxis|dura mater of interbrain|between brain dura mater	http://purl.obolibrary.org/obo/UBERON_0003564	A dura mater that is part of a diencephalon [Automatically generated definition].	
UBERON:0003565	hindbrain dura mater	biolink:AnatomicalEntity	mondo			rhombencephalon dura mater|hindbrain dura mater of neuraxis|dura mater of neuraxis of hindbrain|dura mater of hindbrain	http://purl.obolibrary.org/obo/UBERON_0003565	A dura mater that is part of a hindbrain [Automatically generated definition].	
UBERON:0003562	midbrain dura mater	biolink:AnatomicalEntity	mondo			midbrain dura mater of neuraxis|dura mater of midbrain|dura mater of neuraxis of midbrain|mesencephalon dura mater	http://purl.obolibrary.org/obo/UBERON_0003562	A dura mater that is part of a midbrain [Automatically generated definition].	
MONDO:0006938	pyelitis	biolink:Disease	mondo	DOID:2744|MedDRA:10037584|UMLS:C0034183|SCTID:27174002|EFO:1001140|MESH:D011702|ICD10:N12|NCIT:C34964		inflammation of renal pelvis|renal pelvis inflammation	http://purl.obolibrary.org/obo/MONDO_0006938	Inflammation of the renal pelvis.	SNOMEDCT:27174002|NCIT:C34964|MESH:D011702|UMLS:C0034183|DOID:2744
MONDO:0006939	pyelonephritis	biolink:Disease	mondo	MESH:D011704|ICD10:N10-N16|ICD10:N16|SCTID:45816000|MedDRA:10037596|NCIT:C34965|ICD10:N12|COHD:198199|DOID:11400|EFO:1001141|ICD9:590.80|GARD:0012020|UMLS:C0034186		kidney infection|pyometrium	http://purl.obolibrary.org/obo/MONDO_0006939	An inflammatory process affecting the kidney. The cause is most often bacterial, but may also be fungal in nature. Signs and symptoms may include fever, chills, flank pain, painful and frequent urination, cloudy or bloody urine, and confusion.	SNOMEDCT:45816000|NCIT:C34965|MESH:D011704|UMLS:C0034186|DOID:11400
UBERON:0003563	telencephalon dura mater	biolink:AnatomicalEntity	mondo			dura mater of neuraxis of telencephalon|telencephalon dura mater of neuraxis|dura mater of telencephalon	http://purl.obolibrary.org/obo/UBERON_0003563	A dura mater that is part of a telencephalon [Automatically generated definition].	
CHEBI:22563	anion	biolink:ChemicalSubstance	mondo			aniones|anions|Anionen|Anion|anion	http://purl.obolibrary.org/obo/CHEBI_22563	A monoatomic or polyatomic species having one or more elementary charges of the electron.	
MONDO:0006914	obsolete POEMS syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006914		
MONDO:0006915	polyradiculoneuropathy	biolink:Disease	mondo	EFO:1001116|UMLS:C0032587|DOID:4308|SCTID:128078004|MESH:D011129			http://purl.obolibrary.org/obo/MONDO_0006915	Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (guillain-barre syndrome) and polyradiculoneuropathy, chronic inflammatory demyelinating. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots.	UMLS:C0032587|DOID:4308|MESH:D011129|SNOMEDCT:128078004
MONDO:0006912	pneumatosis cystoides intestinalis	biolink:Disease	mondo	UMLS:C0032266|MESH:D011006|DOID:13249|EFO:1001113|MedDRA:10049732|ICD9:569.89|SCTID:17465007			http://purl.obolibrary.org/obo/MONDO_0006912	The presence of gas within the wall of the large or small intestine.	NCIT:C122580|MESH:D011006|DOID:13249|SNOMEDCT:17465007|UMLS:C0032266
MONDO:0006913	pneumococcal meningitis	biolink:Disease	mondo	MESH:D008586|COHD:432879|EFO:1001114|MedDRA:10035645|UMLS:C0025295|Orphanet:55655|MedDRA:10027253|ICD10:G00.1|SCTID:51169003|ICD9:320.1	ordo_disease	Streptococcus pneumoniae infectious meningitis|Streptococcus pneumoniae caused infectious meningitis	http://purl.obolibrary.org/obo/MONDO_0006913	An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with otitis media; mastoiditis; sinusitis; respiratory tract infections; sickle cell disease (anemia, sickle cell); skull fractures; and other disorders. Clinical manifestations include fever; headache; neck stiffness; and somnolence followed by seizures; focal neurologic deficits (notably deafness); and coma. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)	UMLS:C0025295|MESH:D008586|ORPHA:55655|MEDDRA:10027253|SNOMEDCT:51169003
GO:0045250	cytosolic pyruvate dehydrogenase complex	biolink:OntologyClass	mondo			pyruvate dehydrogenase complex (lipoamide)	http://purl.obolibrary.org/obo/GO_0045250	Complex that carries out the oxidative decarboxylation of pyruvate to form acetyl-CoA; comprises subunits possessing three catalytic activities: pyruvate dehydrogenase (E1), dihydrolipoamide S-acetyltransferase (E2), and dihydrolipoamide dehydrogenase (E3). Usually contains fewer subunits than its eukaryotic counterpart; for example, the E. coli complex contains 12 E1 dimers, 8 E2 trimers, and 6 E3 dimers arranged in highly symmetric cubic order.	
CHEBI:22562	anilines	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_22562	Any  aromatic amine that is benzene carrying at least one amino substituent and its substituted derivatives.	
MONDO:0006910	obsolete pituitary-dependent Cushing disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006910		
MONDO:0006911	obsolete placental site trophoblastic tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006911		
UBERON:0003548	forebrain meninges	biolink:AnatomicalEntity	mondo			forebrain meninx|meninges of forebrain|meninx of forebrain	http://purl.obolibrary.org/obo/UBERON_0003548	A meninx that is part of a forebrain [Automatically generated definition].	
UBERON:0003549	brain pia mater	biolink:AnatomicalEntity	mondo			pia mater of neuraxis of brain|brain pia mater of neuraxis|pia mater of brain	http://purl.obolibrary.org/obo/UBERON_0003549	The fibrous membrane forming the innermost of the three coverings that surrounds the brain within the cranial cavity that is firmly attached to the glial capsule.	
NCBITaxon:464095	Picornavirales	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_464095		
GO:0045259	proton-transporting ATP synthase complex	biolink:OntologyClass	mondo			F1-F0 complex|hydrogen-transporting ATP synthase complex|proton-transporting F-type ATPase complex|hydrogen-translocating F-type ATPase complex	http://purl.obolibrary.org/obo/GO_0045259	A proton-transporting two-sector ATPase complex that catalyzes the phosphorylation of ADP to ATP during oxidative phosphorylation. The complex comprises a membrane sector (F0) that carries out proton transport and a cytoplasmic compartment sector (F1) that catalyzes ATP synthesis by a rotational mechanism; the extramembrane sector (containing 3 a and 3 b subunits) is connected via the d-subunit to the membrane sector by several smaller subunits. Within this complex, the g and e subunits and the 9-12 c subunits rotate by consecutive 120 degree angles and perform parts of ATP synthesis. This movement is driven by the hydrogen ion electrochemical potential gradient.	
GO:0045254	pyruvate dehydrogenase complex	biolink:OntologyClass	mondo			pyruvate dehydrogenase complex (lipoamide)|dihydrolipoyl dehydrogenase complex	http://purl.obolibrary.org/obo/GO_0045254	Complex that carries out the oxidative decarboxylation of pyruvate to form acetyl-CoA; comprises subunits possessing three catalytic activities: pyruvate dehydrogenase (E1), dihydrolipoamide S-acetyltransferase (E2), and dihydrolipoamide dehydrogenase (E3).	
MONDO:0018903	sarcocystosis	biolink:Disease	mondo	MESH:D012523|Orphanet:54368|UMLS:C0036231|MedDRA:10039483|EFO:0007476|ICD9:136.5|SCTID:88905005|DOID:9640|ICD10:A07.8	ordo_disease	sarcosporidiosis	http://purl.obolibrary.org/obo/MONDO_0018903	Infection of the striated muscle of mammals by parasites of the genus sarcocystis. Disease symptoms such as vomiting, diarrhea, muscle weakness, and paralysis are produced by sarcocystin, a toxin produced by the organism.	SNOMEDCT:88905005|MESH:D012523|UMLS:C0036231|ORPHA:54368|MEDDRA:10039483|DOID:9640
MONDO:0018902	hepatocellular adenoma	biolink:Disease	mondo	Orphanet:54272|MedDRA:10019827|MESH:D018248|UMLS:C0206669|EFO:0000762|NCIT:C3758|DOID:0050868|ONCOTREE:LIAD|ICDO:8170/0|ICD10:D13.4	ordo_disease	liver cell adenoma|HCA|hepatocellular adenoma|adenoma of the liver cells|adenoma of liver cells|adenoma, hepatocellular, benign|LIAD	http://purl.obolibrary.org/obo/MONDO_0018902	A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use.	NCIT:C3758|MEDDRA:10019827|DOID:0050868|UMLS:C0206669|ORPHA:54272|MESH:D018248
UBERON:0003550	forebrain pia mater	biolink:AnatomicalEntity	mondo			pia mater of neuraxis of forebrain|forebrain pia mater of neuraxis|pia mater of forebrain	http://purl.obolibrary.org/obo/UBERON_0003550	A pia mater that is part of a forebrain [Automatically generated definition].	
MONDO:0018905	diffuse large B-cell lymphoma	biolink:Disease	mondo	ICD9:200.7|EFO:0000403|UMLS:C0079744|ICD10:C83.3|MESH:D016403|MedDRA:10012818|DOID:0050745|Orphanet:544|GARD:0003178|ICDO:9680/3|NCIT:C8851	ordo_group_of_disorders|gard_rare	diffuse large B-cell lymphoma|DLBCL	http://purl.obolibrary.org/obo/MONDO_0018905	Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common.	MEDDRA:10012818|ORPHA:544|DOID:0050745|UMLS:C0079744|NCIT:C8851|MESH:D016403
MONDO:0018904	primary membranoproliferative glomerulonephritis	biolink:Disease	mondo	MedDRA:10018370|NCIT:C34644|Orphanet:54370|GARD:0011982|SCTID:80321008|UMLS:C0017662|COHD:433257|ICD10:N00.5|ICD9:583.2	ordo_disease	membranoproliferative glomerulonephritis|MPGN|Mesangiocapillary glomerulonephritis|membranoproliferative glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0018904	Membranoproliferative glomerulonephritis (MPGN) is a chronic progressive kidney disorder characterized by glomerular capillary wall structural changes and mesangial cell proliferation leading to nephrotic syndrome, hypocomplementemia, hypertension, proteinuria and end-stage kidney disease. MPGN can be due to either idiopathic (type 1, 2 and 3 MPGN) or secondary (associated with infectious and immune complex diseases) causes.	MESH:D015432|SNOMEDCT:80321008|MEDDRA:10018370|NCIT:C34644|ORPHA:54370|UMLS:C0017662
MONDO:0018901	left ventricular noncompaction (disease)	biolink:Disease	mondo	GARD:0010985|Orphanet:54260|ICD10:I42.8|OMIMPS:604169|UMLS:C1960469|UMLS:C4021133|DOID:0060480|NCIT:C99544	ordo_disease|gard_rare	LVNC|left ventricular non-compaction cardiomyopathy|left ventricular hypertrabeculation|Lv non-compaction syndrome|spongy myocardium|left ventricular non-compaction syndrome	http://purl.obolibrary.org/obo/MONDO_0018901	Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.	UMLS:C4021133|ORPHA:54260|NCIT:C99544|DOID:0060480|UMLS:C1960469
MONDO:0018900	corticosteroid-sensitive aseptic abscess syndrome	biolink:Disease	mondo	SCTID:720751000|GARD:0010946|Orphanet:54251|UMLS:CN205271	ordo_disease	aseptic abscesses syndrome|aseptic systemic abscesses|corticosteroid-sensitive aseptic abscesses|disseminated aseptic abscesses	http://purl.obolibrary.org/obo/MONDO_0018900	Corticosteroid-sensitive aseptic abscesses syndrome is a well-defined entity within the group of autoinflammatory disorders.	ORPHA:54251|UMLS:CN205271|SNOMEDCT:720751000
UBERON:0003557	midbrain arachnoid mater	biolink:AnatomicalEntity	mondo			mesencephalon arachnoid mater|midbrain arachnoid|midbrain arachnoid mater of neuraxis|arachnoid of midbrain|arachnoid mater of midbrain|arachnoid mater of neuraxis of midbrain	http://purl.obolibrary.org/obo/UBERON_0003557	An arachnoid mater that is part of a midbrain [Automatically generated definition].	
UBERON:0003558	diencephalon arachnoid mater	biolink:AnatomicalEntity	mondo			arachnoid mater of interbrain|arachnoid of mature diencephalon|arachnoid mater of neuraxis of interbrain|between brain arachnoid|diencephalon arachnoid mater of neuraxis|arachnoid of diencephalon|between brain arachnoid mater|interbrain arachnoid|mature diencephalon arachnoid|between brain arachnoid mater of neuraxis|arachnoid mater of diencephalon|arachnoid mater of neuraxis of between brain|interbrain arachnoid mater|mature diencephalon arachnoid mater|arachnoid mater of between brain|arachnoid mater of neuraxis of diencephalon|interbrain arachnoid mater of neuraxis|mature diencephalon arachnoid mater of neuraxis|arachnoid mater of neuraxis of mature diencephalon|arachnoid of interbrain|arachnoid of between brain|arachnoid mater of mature diencephalon|diencephalon arachnoid	http://purl.obolibrary.org/obo/UBERON_0003558	An arachnoid mater that is part of a diencephalon [Automatically generated definition].	
MONDO:0006909	pituitary dwarfism	biolink:Disease	mondo	UMLS:C0013338|MESH:D004393|EFO:1001109|SCTID:367460001|COHD:25780|ICD9:253.3|MedDRA:10035083			http://purl.obolibrary.org/obo/MONDO_0006909	Proportionately decreased bodily growth due to failure of the pituitary gland to produce an adequate supply of growth hormone.	MESH:D004393|SNOMEDCT:367460001|UMLS:C0013338|NCIT:C34555
UBERON:0003555	spinal cord pia mater	biolink:AnatomicalEntity	mondo			pia mater of neuraxis of spinal cord|spinal cord pia mater of neuraxis|pia mater of spinal cord	http://purl.obolibrary.org/obo/UBERON_0003555	A pia mater that is part of a spinal cord [Automatically generated definition].	
UBERON:0003556	forebrain arachnoid mater	biolink:AnatomicalEntity	mondo			arachnoid of forebrain|forebrain arachnoid|forebrain arachnoid mater of neuraxis|arachnoid mater of neuraxis of forebrain|arachnoid mater of forebrain	http://purl.obolibrary.org/obo/UBERON_0003556	An arachnoid mater that is part of a forebrain [Automatically generated definition].	
UBERON:0003553	diencephalon pia mater	biolink:AnatomicalEntity	mondo			mature diencephalon pia mater|interbrain pia mater|pia mater of neuraxis of mature diencephalon|pia mater of neuraxis of diencephalon|mature diencephalon pia mater of neuraxis|interbrain pia mater of neuraxis|pia mater of mature diencephalon|pia mater of interbrain|pia mater of neuraxis of interbrain|diencephalon pia mater of neuraxis|between brain pia mater|pia mater of neuraxis of between brain|between brain pia mater of neuraxis|pia mater of between brain|pia mater of diencephalon	http://purl.obolibrary.org/obo/UBERON_0003553	A pia mater that is part of a diencephalon [Automatically generated definition].	
MONDO:0006907	pilar sheath acanthoma	biolink:Disease	mondo	UMLS:C0346005|DOID:4322|SCTID:254693008|EFO:1001107|NCIT:C4468		Infundibuloisthmicoma|Pilar sheath acanthoma|acanthoma of Pilar sheath|acanthoma of the Pilar sheath	http://purl.obolibrary.org/obo/MONDO_0006907	A benign, small, papular or nodular skin neoplasm that usually arises above the upper lip. It is characterized by an epithelial proliferation with a central cavity. The cavity wall is lined with keratinocytes.	NCIT:C4468|UMLS:C0346005|DOID:4322|SNOMEDCT:254693008
MONDO:0006908	pituitary apoplexy	biolink:Disease	mondo	SCTID:237701005|ICD9:253.8|EFO:1001108|UMLS:C0032001|Orphanet:95613|MESH:D010899|DOID:1129|MedDRA:10056447|ICD10:E23.6|NCIT:C26853	ordo_disease	pituitary gland apoplexy	http://purl.obolibrary.org/obo/MONDO_0006908	A rare, potentially life-threatening disorder caused by acute ischemic infarction or hemorrhage in the pituitary gland. It is most often associated with the presence of a pituitary gland adenoma. Signs and symptoms include headache, vomiting, visual disturbances, and endocrine dysfunction.	ORPHA:95613|MESH:D010899|MEDDRA:10056447|NCIT:C26853|UMLS:C0032001|SNOMEDCT:237701005|DOID:1129
UBERON:0003554	hindbrain pia mater	biolink:AnatomicalEntity	mondo			rhombencephalon pia mater|pia mater of neuraxis of hindbrain|hindbrain pia mater of neuraxis|pia mater of hindbrain	http://purl.obolibrary.org/obo/UBERON_0003554	A pia mater that is part of a hindbrain [Automatically generated definition].	
MONDO:0006905	pigmented spindle cell nevus	biolink:Disease	mondo	MESH:D018331|EFO:1001105|NCIT:C4751|SCTID:254812004		spindle cell Nevus of Reed	http://purl.obolibrary.org/obo/MONDO_0006905	A benign, small and slightly elevated brown or black skin lesion with usually well-demarcated borders. It is characterized by the presence of a melanocytic proliferation resulting in the formation of uniform cellular nests. Sometimes the clinical and morphologic features may be difficult to distinguish from melanoma.	SNOMEDCT:254812004|NCIT:C4751|MESH:D018331
UBERON:0003551	midbrain pia mater	biolink:AnatomicalEntity	mondo			pia mater of midbrain|pia mater of neuraxis of midbrain|mesencephalon pia mater|midbrain pia mater of neuraxis	http://purl.obolibrary.org/obo/UBERON_0003551	A pia mater that is part of a midbrain [Automatically generated definition].	
MONDO:0006906	pigmented villonodular synovitis	biolink:Disease	mondo	ICD9:719.2|MESH:D013586|ICD10:M12.2|EFO:1001106|GARD:0007396|Orphanet:66627|ICD9:719.20|DOID:2702|ICD10:M12.20|UMLS:C0039106|COHD:81382|DOID:9898|SCTID:95412009|ICD9:719.28	ordo_disease|gard_rare	localized pigmented villonodular synovitis|diffuse-type giant cell tumor|TGCT|villous tenosynovitis|diffuse pigmented villonodular synovitis|tenosynovial giant cell tumors|diffuse Giant cell tumor of Tenosynovium|villonodular synovitis|diffuse-type GCT|TSGCT|tenosynovial giant cell tumor	http://purl.obolibrary.org/obo/MONDO_0006906	Pigmented villonodular synovitis (PVNS) is a rare benign proliferative disorder of the synovial membrane primarily affecting young adults (with a peak age of onset in the second to fourth decade of life) characterized by proliferative, locally invasive tumor-like lesions, usually involving a single joint, tendon sheath or bursae (most commonly the joints of the knee and hip and rarely others such as the ankle, shoulder and temporomandibular joints). It presents with pain and limitation of motion along with swelling, heat and tenderness over the involved joint, eventually leading to arthritic degeneration and significant locomotor deficit, if left untreated. PVNS can recur in patients even after treatment.	SNOMEDCT:95412009|DOID:9898|UMLS:C0039106|MESH:D013586|ORPHA:66627|DOID:2702
UBERON:0003552	telencephalon pia mater	biolink:AnatomicalEntity	mondo			pia mater of neuraxis of telencephalon|telencephalon pia mater of neuraxis|pia mater of telencephalon	http://purl.obolibrary.org/obo/UBERON_0003552	A pia mater that is part of a telencephalon [Automatically generated definition].	
MONDO:0006925	Fusobacteriaceae infectious disease	biolink:Disease	mondo	MESH:D045825|EFO:1001126|UMLS:C1258222		Fusobacteriaceae infection|Fusobacteriaceae disease or disorder|Fusobacteriaceae caused disease or disorder|infection, Fusobacteriaceae|infections, Fusobacteriaceae	http://purl.obolibrary.org/obo/MONDO_0006925	Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum fusobacteria.	MESH:D045825|UMLS:C1258222
FOODON:03412611	doe (goat)	biolink:OntologyClass	mondo			nanny goat	http://purl.obolibrary.org/obo/FOODON_03412611	A female goat	
MONDO:0006926	haemophilus infectious disease	biolink:Disease	mondo	NCIT:C34654|EFO:1001127|MESH:D006192|SCTID:41659003		infections, Haemophilus|infection, Haemophilus|infection, Hemophilus|Haemophilus disease or disorder|Haemophilus infectious disease|haemophilus infectious disease|infections, Hemophilus|Haemophilus caused disease or disorder|Hemophilus infection|Haemophilus infection|Hemophilus infections	http://purl.obolibrary.org/obo/MONDO_0006926	Infections with bacteria of the genus haemophilus.	SNOMEDCT:41659003|NCIT:C34654|MESH:D006192
MONDO:0006923	Bacillaceae infectious disease	biolink:Disease	mondo	EFO:1001124|UMLS:C0085389|MESH:D016863		infections, Bacillaceae|Bacillaceae caused disease or disorder|infection, Bacillaceae|Bacillaceae disease or disorder|Bacillaceae infection	http://purl.obolibrary.org/obo/MONDO_0006923	Infections with bacteria of the family bacillaceae.	UMLS:C0085389|MESH:D016863
GO:0045260	plasma membrane proton-transporting ATP synthase complex	biolink:OntologyClass	mondo			hydrogen-transporting ATP synthase|hydrogen-translocating F-type ATPase complex|proton-transporting ATP synthase complex|plasma membrane hydrogen-translocating F-type ATPase complex	http://purl.obolibrary.org/obo/GO_0045260	A proton-transporting ATP synthase complex found in the plasma membrane. Examples of this component are found in Bacterial species.	
MONDO:0006924	Bartonellaceae infectious disease	biolink:Disease	mondo	EFO:1001125|UMLS:C0004773|MESH:D001476		Bartonellaceae caused disease or disorder|infection, Bartonellaceae|Bartonellaceae disease or disorder|infections, Bartonellaceae|Bartonellaceae infection	http://purl.obolibrary.org/obo/MONDO_0006924	Infections with bacteria of the family bartonellaceae.	MESH:D001476|UMLS:C0004773
MONDO:0006921	Actinomycetales infectious disease	biolink:Disease	mondo	UMLS:C0001255|NCIT:C84534|SCTID:721751007|ICD9:039.8|EFO:1001122|SCTID:11817007|ICD9:039.9|MESH:D000193		actinomycotic infection|Infections, Actinomycete|Actinomycetales disease or disorder|Actinomycete Infection|Actinomycetales Infections|Actinomycete Infections|infections, Actinomycetales|Actinomycetales caused disease or disorder|infection, Actinomycetales|actinomycetales infection|Infection caused by Actinomycetales|Actinomycetales infection|infection, actinomycete|Infections, Actinomycetales|actinomycosis|infections, actinomycete|infection caused by actinomycetales|Infection, Actinomycetales|Actinomycetales Infection|actinomycetales infection|actinomycete infection|actinomycete infections|actinomycotic infectious disease|Infection, Actinomycete	http://purl.obolibrary.org/obo/MONDO_0006921	Infections with bacteria of the order actinomycetales.	UMLS:C0001255|MESH:D000193|SNOMEDCT:11817007|SNOMEDCT:721751007|NCIT:C84534
UBERON:0003539	left lung bronchiole	biolink:AnatomicalEntity	mondo			lobular bronchiole of left lung|left lung lobular bronchiole|bronchiole of left lung	http://purl.obolibrary.org/obo/UBERON_0003539	A bronchiole that is part of a left lung [Automatically generated definition].	
MONDO:0006922	Anaplasmataceae infectious disease	biolink:Disease	mondo	SCTID:422167001|EFO:1001123|MESH:D000711		infections, Anaplasmataceae|Haemobartonellosis|Anaplasmataceae disease or disorder|infection, Anaplasmataceae|Anaplasmataceae infection|Anaplasmataceae caused disease or disorder|Haemobartonelloses	http://purl.obolibrary.org/obo/MONDO_0006922	Infections with bacteria of the family anaplasmataceae.	SNOMEDCT:422167001|MESH:D000711
UBERON:0003537	left lung alveolar duct	biolink:AnatomicalEntity	mondo			alveolar duct of left lung	http://purl.obolibrary.org/obo/UBERON_0003537	An alveolar duct that is part of a left lung [Automatically generated definition].	
MONDO:0006920	prediabetes syndrome	biolink:Disease	mondo	EFO:1001121|MESH:D011236|UMLS:C0362046|NCIT:C122685|DOID:11716|ICD10:R73.09|MedDRA:10065542		prediabetes|borderline diabetes|prediabetic state	http://purl.obolibrary.org/obo/MONDO_0006920	A condition in which blood glucose levels are high, but not high enough to be classified as type 2 diabetes.	NCIT:C122685|MESH:D011236|DOID:11716|UMLS:C0362046
GO:1901999	homogentisate metabolic process	biolink:OntologyClass	mondo			homogentisate metabolism	http://purl.obolibrary.org/obo/GO_1901999	The chemical reactions and pathways involving homogentisate.	
UBERON:0003538	right lung bronchiole	biolink:AnatomicalEntity	mondo			bronchiole of right lung|lobular bronchiole of right lung|right lung lobular bronchiole	http://purl.obolibrary.org/obo/UBERON_0003538	A bronchiole that is part of a right lung [Automatically generated definition].	
MONDO:0043905	pneumonitis	biolink:Disease	mondo	NCIT:C113159|SCTID:205237003		pneumonitis|inflammation of lung parenchyma|lung parenchyma inflammation	http://purl.obolibrary.org/obo/MONDO_0043905	An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia.	SNOMEDCT:205237003|NCIT:C113159
MONDO:0043904	leishmaniasis, diffuse cutaneous	biolink:Disease	mondo	SCTID:38573008|MESH:D016774		leproid leishmaniasis|cutaneous Leishmaniases, diffuse|diffuse cutaneous leishmaniasis|cheloid leishmaniasis|Leishmaniases, diffuse cutaneous|diffuse cutaneous Leishmaniases|lepromatous cutaneous leishmaniasis|dcl - diffuse cutaneous leishmaniasis|cutaneous leishmaniasis, diffuse	http://purl.obolibrary.org/obo/MONDO_0043904	A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement.	MESH:D016774|SNOMEDCT:38573008
UBERON:0003547	brain meninx	biolink:AnatomicalEntity	mondo			meninges of brain|meninx of brain|brain meninges	http://purl.obolibrary.org/obo/UBERON_0003547	A meninx that is part of a brain [Automatically generated definition].	
UBERON:0003544	brain white matter	biolink:AnatomicalEntity	mondo			brain white matter of neuraxis|brain white substance|white matter of neuraxis of brain|white matter of brain|white substance of brain	http://purl.obolibrary.org/obo/UBERON_0003544	The regions of the brain that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites.	
UBERON:0003542	right lung respiratory bronchiole	biolink:AnatomicalEntity	mondo			right lung bronchiolus respiratorius|respiratory bronchiole of right lung|bronchiolus respiratorius of right lung	http://purl.obolibrary.org/obo/UBERON_0003542	A respiratory bronchiole that is part of a right lung [Automatically generated definition].	
MONDO:0006918	posterior uveitis	biolink:Disease	mondo	EFO:1001119|MESH:D015866|DOID:12574|SCTID:43363007|MedDRA:10036370|GARD:0004457	gard_rare	uveitis, posterior|inflammation of chorioretinal region|chorioretinal region inflammation	http://purl.obolibrary.org/obo/MONDO_0006918	Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis.	MESH:D015866|SNOMEDCT:43363007|DOID:12574
UBERON:0003543	left lung respiratory bronchiole	biolink:AnatomicalEntity	mondo			bronchiolus respiratorius of left lung|respiratory bronchiole of left lung|left lung bronchiolus respiratorius	http://purl.obolibrary.org/obo/UBERON_0003543	A respiratory bronchiole that is part of a left lung [Automatically generated definition].	
MONDO:0006919	potassium deficiency	biolink:Disease	mondo	MedDRA:10036445|EFO:1001120|MESH:D011191			http://purl.obolibrary.org/obo/MONDO_0006919	A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing polyuria and decreased maximal urinary concentrating ability with secondary polydipsia. (Merck Manual, 16th ed)	MESH:D011191
GO:0070201	regulation of establishment of protein localization	biolink:OntologyClass	mondo			regulation of establishment of protein localisation	http://purl.obolibrary.org/obo/GO_0070201	Any process that modulates the frequency, rate or extent of the directed movement of a protein to a specific location.	
MONDO:0006916	postcholecystectomy syndrome	biolink:Disease	mondo	ICD10:K91.5|EFO:1001117|DOID:9740|UMLS:C0152099|SCTID:90782003|ICD9:576.0|MESH:D017562|COHD:200444			http://purl.obolibrary.org/obo/MONDO_0006916	Abdominal symptoms after removal of the gallbladder. The common postoperative symptoms are often the same as those present before the operation, such as colic, bloating, nausea, and vomiting. There is pain on palpation of the right upper quadrant and sometimes jaundice. The term is often used, inaccurately, to describe such postoperative symptoms not due to gallbladder removal.	DOID:9740|UMLS:C0152099|SNOMEDCT:90782003|MESH:D017562
UBERON:0003540	right lung terminal bronchiole	biolink:AnatomicalEntity	mondo			right lung bronchiolus terminalis|terminal bronchiole of right lung|bronchiolus terminalis of right lung	http://purl.obolibrary.org/obo/UBERON_0003540	A terminal bronchiole that is part of a right lung [Automatically generated definition].	
UBERON:0003541	left lung terminal bronchiole	biolink:AnatomicalEntity	mondo			bronchiolus terminalis of left lung|left lung bronchiolus terminalis|terminal bronchiole of left lung	http://purl.obolibrary.org/obo/UBERON_0003541	A terminal bronchiole that is part of a left lung [Automatically generated definition].	
MONDO:0006917	posterior cerebral artery infarction	biolink:Disease	mondo	UMLS:C0752132|EFO:1001118|MESH:D020762|DOID:3821			http://purl.obolibrary.org/obo/MONDO_0006917	Necrosis induced by ischemia in the posterior cerebral artery distribution system which supplies portions of the brain stem; the thalamus; temporal lobe, and occipital lobe. Depending on the size and location of infarction, clinical features include olfaction disorders and visual problems (agnosia; alexia; hemianopsia).	MESH:D020762|UMLS:C0752132|DOID:3821
SO:0002300	unit_of_gene_expression	biolink:SequenceFeature	mondo			unit of gene expression	http://purl.obolibrary.org/obo/SO_0002300	Transcription units or transcribed coding sequences.	
MONDO:0004317	multiple spinal canal and spinal cord meningioma	biolink:Disease	mondo	UMLS:C1334825|NCIT:C5275|DOID:7646		multiple spinal canal and spinal cord Meningiomas|multiple intraspinal Meningiomas|multiple Meningiomas of spinal canal and spinal cord|multiple meningiomas of the spinal canal and spinal cord	http://purl.obolibrary.org/obo/MONDO_0004317	Multiple meningiomas that arises from the spinal meninges.	NCIT:C5275|DOID:7646|UMLS:C1334825
UBERON:0015593	frontal gyrus	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015593	A gyrus that is part of a frontal cortex.	
MONDO:0004316	acantholytic squamous cell skin carcinoma	biolink:Disease	mondo	DOID:7643|UMLS:C0345979|SCTID:254654004|NCIT:C4460		acantholytic squamous cell carcinoma of skin|acantholytic squamous cell skin carcinoma|acantholytic squamous cell carcinoma of the skin	http://purl.obolibrary.org/obo/MONDO_0004316	A histologic variant of squamous cell carcinoma that arises from the skin. It is characterized by loosening of the intercellular bridges between the malignant cells which results in acantholysis.	NCIT:C4460|SNOMEDCT:254654004|DOID:7643|UMLS:C0345979
MONDO:0006978	splenic infarction	biolink:Disease	mondo	SCTID:22996003|DOID:2533|UMLS:C0037998|ICD10:D73.5|EFO:1001190|MedDRA:10041648|GARD:0009973|ICD9:289.59|COHD:4044745|MESH:D013159		splenic infarcts|infarct of the spleen|splenic infarct|splenic infarction	http://purl.obolibrary.org/obo/MONDO_0006978	Insufficiency of arterial or venous blood supply to the spleen due to emboli, thrombi, vascular torsion, or pressure that produces a macroscopic area of necrosis. (From Stedman, 25th ed)	UMLS:C0037998|SNOMEDCT:22996003|DOID:2533|MESH:D013159
MONDO:0004319	hypercalcemic type ovarian small cell carcinoma	biolink:Disease	mondo	NCIT:C40439|DOID:7651|UMLS:C1518736		SCCOHT|ovarian small cell carcinoma, hypercalcemic type	http://purl.obolibrary.org/obo/MONDO_0004319	An undifferentiated small cell carcinoma that arises from the ovary and is associated with hypercalcemia. Electron microscopic studies show neurosecretory granules are either absent or, when present, are in small numbers.	UMLS:C1518736|DOID:7651|NCIT:C40439
GO:0045271	respiratory chain complex I	biolink:OntologyClass	mondo			electron transport complex I|NADH-Q oxidoreductase complex|NADH dehydrogenase (ubiquinone) complex|NADH dehydrogenase complex (ubiquinone)	http://purl.obolibrary.org/obo/GO_0045271	Respiratory chain complex I is an enzyme of the respiratory chain. It consists of several polypeptide chains and is L-shaped, with a horizontal arm lying in the membrane and a vertical arm that projects into the matrix. The electrons of NADH enter the chain at this complex.	
MONDO:0004318	pulmonary type ovarian small cell carcinoma	biolink:Disease	mondo	UMLS:C1518737|NCIT:C40440|DOID:7650		ovarian small cell carcinoma, pulmonary type	http://purl.obolibrary.org/obo/MONDO_0004318	An aggressive small cell neuroendocrine carcinoma that arises from the ovary. Morphologically, it resembles the small cell carcinoma that arises from the lung.	UMLS:C1518737|DOID:7650|NCIT:C40440
GO:0045272	plasma membrane respiratory chain complex I	biolink:OntologyClass	mondo			NADH dehydrogenase (ubiquinone) complex|respiratory chain complex I	http://purl.obolibrary.org/obo/GO_0045272	A subcomplex of the respiratory chain located in the plasma membrane. It contains about 25 different polypeptide subunits, including NADH dehydrogenase (ubiquinone), flavin mononucleotide and several different iron-sulfur clusters containing non-heme iron. The iron undergoes oxidation-reduction between Fe(II) and Fe(III), and catalyzes proton translocation linked to the oxidation of NADH by ubiquinone. Examples of this component are found in bacterial species.	
MONDO:0006979	steatitis	biolink:Disease	mondo	DOID:4025|EFO:1001191|SCTID:33882007|UMLS:C0038235|MESH:D013231			http://purl.obolibrary.org/obo/MONDO_0006979	A disease of cats and mink characterized by a marked inflammation of adipose tissue and the deposition of 'ceroid' pigment in the interstices of the adipose cells. It is believed to be caused by feeding diets containing too much unsaturated fatty acid and too little vitamin E. (Merck Veterinary Manual, 5th ed; Stedman, 25th ed)	SNOMEDCT:33882007|MESH:D013231|DOID:4025|UMLS:C0038235
MONDO:0006976	somatostatinoma	biolink:Disease	mondo	MESH:D013005|ICD9:235.5|ICDO:8156/1|UMLS:C0037661|Orphanet:97283|NCIT:C3379|SCTID:253006001|GARD:0004900|MedDRA:10041329|DOID:4430|EFO:1001187|ICD10:E16.8	gard_rare|ordo_disease	ampullary somatostatinoma|carcinoid somatostatinoma|somatostatin-producing tumor|somatostatin cell neoplasm|tumor of the Delta cells|somatostatin-producing NET|tumor of Delta cells|somatostatin producing tumor|Somatomedin-secreting carcinoid|malignant islet cell tumor|somatostatinoma|somatostatin-producing neuroendocrine tumor|somatostatin cell tumor|somatostatin cell tumour|Delta cell tumor|somatostatin-secreting pancreatic neoplasm	http://purl.obolibrary.org/obo/MONDO_0006976	A rare, usually malignant neuroendocrine tumor arizing from delta cells. This neoplasm produces large amounts of somatostatin, which may result in a syndrome characterized by diarrhea, steatorrhea, weight loss, and gastric hyposecretion. Sixty percent are found in the pancreas and 40% in the duodenum or jejunum. The peak incidence occurs between 40 and 60 years of age; women are affected more than men by 2:1.	SNOMEDCT:253006001|NCIT:C3379|MEDDRA:10041329|MESH:D013005|ORPHA:97283|DOID:4430|UMLS:C0037661
MONDO:0004313	gasserian ganglion meningioma	biolink:Disease	mondo	NCIT:C6779|UMLS:C1333760|DOID:7635		Gasserian meningioma|meningioma (disease) of gasserian ganglion|meningioma of the Gasserian ganglion|meningioma of Gasserian ganglion|gasserian ganglion meningioma (disease)	http://purl.obolibrary.org/obo/MONDO_0004313	A meningioma that affects the trigeminal ganglion.	NCIT:C6779|DOID:7635|UMLS:C1333760
MONDO:0006977	spermatocele	biolink:Disease	mondo	ICD10:N50.3|MedDRA:10041490|UMLS:C0037859|ICD9:608.1|MESH:D013088|SCTID:49263001|ICD10:N43.4|COHD:197601|DOID:11997|EFO:1001189|ICD10:N43.40			http://purl.obolibrary.org/obo/MONDO_0006977	A benign testicular cyst that is located in the epididymis, and which contains serous fluid, lymphocytes, spermatozoa, and debris.	DOID:11997|NCIT:C3865|MESH:D013088|SNOMEDCT:49263001|UMLS:C0037859|NCIT:C120909
MONDO:0004312	suprasellar meningioma	biolink:Disease	mondo	NCIT:C6776|DOID:7634|UMLS:C1336535		sella turcica meningioma (disease)|meningioma (disease) of sella turcica	http://purl.obolibrary.org/obo/MONDO_0004312	A meningioma that affects the suprasellar region.	NCIT:C6776|UMLS:C1336535|DOID:7634
MONDO:0006974	small cell sarcoma	biolink:Disease	mondo	DOID:3098|EFO:1001184|MESH:D018228|UMLS:C0206652|ICDO:8803/3|NCIT:C3746		small cell sarcomas|small cell sarcoma	http://purl.obolibrary.org/obo/MONDO_0006974	A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm.	NCIT:C3746|DOID:3098|UMLS:C0206652|MESH:D018228
MONDO:0004315	cholangiolocellular carcinoma	biolink:Disease	mondo	DOID:7642|NCIT:C41617|UMLS:C1516490		CLC|intralobular bile duct cholangiocarcinoma|cholangiolocellular carcinoma|cholangiocarcinoma of intralobular bile duct	http://purl.obolibrary.org/obo/MONDO_0004315	An intrahepatic cholangiocarcinoma that arises from the canals of Hering.	UMLS:C1516490|NCIT:C41617|DOID:7642
MONDO:0006975	smooth muscle tumor	biolink:Disease	mondo	EFO:1001185|NCIT:C3751|MESH:D018235|UMLS:C0206658|DOID:4310		neoplasm of smooth muscle|smooth muscle tumor|tumor of the smooth muscle|tumor of smooth muscle|neoplasm of the smooth muscle|smooth muscle neoplasm	http://purl.obolibrary.org/obo/MONDO_0006975	A benign or malignant myomatous neoplasm arising from smooth muscle.	MESH:D018235|NCIT:C3751|DOID:4310|UMLS:C0206658
MONDO:0004314	malignant cutaneous granular cell skin tumor	biolink:Disease	mondo	DOID:7639|UMLS:C1334575|NCIT:C5614		malignant granular cell tumor of skin|malignant cutaneous granular cell tumor|malignant granular cell tumor of the skin|malignant granular cell skin neoplasm|malignant granular cell neoplasm of skin|malignant granular cell neoplasm of the skin|malignant granular cell skin tumor	http://purl.obolibrary.org/obo/MONDO_0004314		NCIT:C5614|UMLS:C1334575|DOID:7639
MONDO:0006972	silo filler disease	biolink:Disease	mondo	EFO:1001182|DOID:4374|SCTID:61233003|MESH:D012832|UMLS:C0037120		silo filler disease|silo-fillers' disease|silo filler's disease	http://purl.obolibrary.org/obo/MONDO_0006972	A form of alveolitis or pneumonitis caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage.	UMLS:C0037120|DOID:4374|SNOMEDCT:61233003|MESH:D012832
MONDO:0006973	skin appendage carcinoma	biolink:Disease	mondo	EFO:1001183|NCIT:C3775|ONCOTREE:SKAC|MESH:D018280|UMLS:C0206697|ICDO:8390/3|MedDRA:10040798		skin appendage carcinoma|skin adnexal carcinoma|carcinoma of adnexa|carcinoma of skin appendage|carcinoma of cutaneous appendage|cutaneous appendage carcinoma|adnexal carcinoma|carcinoma, adnexal, malignant	http://purl.obolibrary.org/obo/MONDO_0006973	A carcinoma arising from the sebaceous glands, sweat glands, or the hair follicles. Representative examples include sebaceous carcinoma, apocrine carcinoma, eccrine carcinoma, and pilomatrical carcinoma.	NCIT:C3775|UMLS:C0206697|MESH:D018280
MONDO:0004311	carcinoma of Cowper glands	biolink:Disease	mondo	DOID:7632|UMLS:C1516284|NCIT:C39864		carcinoma of Cowper glands|carcinoma of bulbo-urethral gland|Cowper gland carcinoma|bulbo-urethral gland carcinoma	http://purl.obolibrary.org/obo/MONDO_0004311	A carcinoma that involves the bulbo-urethral gland.	NCIT:C39864|UMLS:C1516284|DOID:7632
MONDO:0006970	sialolithiasis	biolink:Disease	mondo	EFO:1001180|MESH:D015494|ICD10:K11.5|ICD9:527.5|DOID:12905|MedDRA:10040631|UMLS:C0036091|COHD:30441|SCTID:28826002		sialolith|Stone of salivary gland or duct|salivary gland Stone	http://purl.obolibrary.org/obo/MONDO_0006970	A concretion in the salivary gland.	DOID:12905|MESH:D015494|UMLS:C0036091|SNOMEDCT:28826002|NCIT:C34994
MONDO:0006971	sigmoid neoplasm	biolink:Disease	mondo	SCTID:126845000|EFO:1001181|MedDRA:10026456|MESH:D012811|UMLS:C0037073|ICD9:153.3|DOID:1896		sigmoid colon neoplasm|tumor of sigmoid colon|sigmoid colon neoplasm (disease)|neoplasm of sigmoid colon|sigmoid colon tumor	http://purl.obolibrary.org/obo/MONDO_0006971	Tumors or cancer of the sigmoid colon.	DOID:1896|SNOMEDCT:126845000|UMLS:C0037073|MESH:D012811
MONDO:0004310	adult embryonal tumor with multilayered rosettes, c19mc-altered	biolink:Disease	mondo	DOID:7631|NCIT:C8290|UMLS:C0281330		embryonal tumor with Multilayered Rosettes, C19MC-altered|adult embryonal tumor with Multilayered Rosettes, C19MC-altered|adult ependymoblastoma|ependymoblastoma of adults	http://purl.obolibrary.org/obo/MONDO_0004310	An embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults.	DOID:7631|NCIT:C8290|UMLS:C0281330
GO:0045275	respiratory chain complex III	biolink:OntologyClass	mondo			coenzyme Q-cytochrome c reductase complex|CoQH2-cytochrome c reductase complex|coenzyme Q-cytochrome c oxidoreductase complex|electron transport complex III|cytochrome bc1 complex|ubiquinol-cytochrome-c reductase complex|ubiquinol-cytochrome c oxidoreductase complex|cytochrome bc(1) complex|complex III	http://purl.obolibrary.org/obo/GO_0045275	A protein complex that transfers electrons from ubiquinol to cytochrome c and translocates two protons across a membrane. The complex contains a core structure of three catalytic subunits: cytochrome b, the Rieske iron sulfur protein (ISP), and cytochrome c1, which are arranged in an integral membrane-bound dimeric complex; additional subunits are present, and vary among different species.	
GO:0045276	plasma membrane respiratory chain complex III	biolink:OntologyClass	mondo			plasma membrane ubiquinol-cytochrome-c reductase complex|respiratory chain complex III|plasma membrane coenzyme Q-cytochrome c oxidoreductase complex|ubiquinol-cytochrome-c reductase complex|ubiquinol-cytochrome c oxidoreductase complex|plasma membrane coenzyme Q-cytochrome c reductase complex|plasma membrane cytochrome bc1 complex	http://purl.obolibrary.org/obo/GO_0045276	A part of the respiratory chain located in the plasma membrane, containing about 10 polypeptide subunits including four redox centers: cytochrome b/b6, cytochrome c1 and an 2Fe-2S cluster. Catalyzes the oxidation of ubiquinol by oxidized cytochrome c1. Examples of this component are found in bacterial species.	
MONDO:0018969	craniorachischisis (disease)	biolink:Disease	mondo	HP:0030770|ICD9:740.1|GARD:0010504|COHD:372727|Orphanet:63260|ICD10:Q00.1|UMLS:C0152426|MedDRA:10011321|NCIT:C98907|SCTID:32219008	ordo_morphological_anomaly	cranial rachischisis|craniorachischisis	http://purl.obolibrary.org/obo/MONDO_0018969	Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system.	NCIT:C98907|ORPHA:63260|UMLS:C0152426|MEDDRA:10011321|SNOMEDCT:32219008
MONDO:0016306	Niemann-Pick disease type C, severe perinatal form	biolink:Disease	mondo	Orphanet:216972|UMLS:CN201112|ICD10:E75.2	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0016306		ORPHA:216972|UMLS:CN201112
MONDO:0018968	iniencephaly	biolink:Disease	mondo	ICD10:Q00.2|SCTID:2438005|ICD9:740.2|NCIT:C124549|UMLS:C0152234|GARD:0010506|COHD:378848|MedDRA:10022034|Orphanet:63259	ordo_morphological_anomaly|gard_rare		http://purl.obolibrary.org/obo/MONDO_0018968	Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system.	NCIT:C124549|ORPHA:63259|UMLS:C0152234|SNOMEDCT:2438005|MEDDRA:10022034
MONDO:0016307	Niemann-Pick disease type C, severe early infantile neurologic onset	biolink:Disease	mondo	Orphanet:216975|ICD10:E75.2|UMLS:CN201113	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0016307		UMLS:CN201113|ORPHA:216975
MONDO:0016308	Niemann-Pick disease type C, late infantile neurologic onset	biolink:Disease	mondo	ICD10:E75.2|UMLS:CN201114|Orphanet:216978	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0016308		ORPHA:216978|UMLS:CN201114
MONDO:0016309	Niemann-Pick disease type C, juvenile neurologic onset	biolink:Disease	mondo	Orphanet:216981|UMLS:CN201115|ICD10:E75.2	ordo_clinical_subtype	Niemann-Pick disease type C, classic form	http://purl.obolibrary.org/obo/MONDO_0016309		UMLS:CN201115|ORPHA:216981
MONDO:0018965	Alport syndrome	biolink:Disease	mondo	Orphanet:63|DOID:10983|ICD10:Q87.8|MedDRA:10001843|UMLS:C1567741|OMIMPS:301050|NCIT:C34842|ICD10:Q87.81	ordo_disease	hereditary nephritis|Alport's syndrome|Alport deafness-nephropathy	http://purl.obolibrary.org/obo/MONDO_0018965	A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities.	ORPHA:63|MEDDRA:10001843|DOID:10983|MESH:D009394|UMLS:C1567741|NCIT:C34842
MONDO:0016302	isolated congenitally uncorrected transposition of the great arteries	biolink:Disease	mondo	Orphanet:216718|ICD10:Q20.3	ordo_clinical_subtype	isolated congenitally uncorrected transposition of the great vessels	http://purl.obolibrary.org/obo/MONDO_0016302		ORPHA:216718
MONDO:0016303	congenitally uncorrected transposition of the great arteries with cardiac malformation	biolink:Disease	mondo	Orphanet:216729|ICD10:Q20.3	ordo_clinical_subtype	congenitally uncorrected transposition of the great vessels with cardiac malformation|TGA with cardiac malformation	http://purl.obolibrary.org/obo/MONDO_0016303		ORPHA:216729
MONDO:0018964	homocystinuria without methylmalonic aciduria	biolink:Disease	mondo	SCTID:721225009|ICD10:E72.1|UMLS:C4303479|Orphanet:622	ordo_disease	methylcobalamin deficiency|functional methionine synthase deficiency|homocystinuria without methylmalonic aciduria	http://purl.obolibrary.org/obo/MONDO_0018964	Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1).	ORPHA:622|SNOMEDCT:721225009|UMLS:C4303479
MONDO:0016304	classic pantothenate kinase-associated neurodegeneration	biolink:Disease	mondo	UMLS:CN201109|Orphanet:216866|ICD10:G23.0	ordo_clinical_subtype	PKAN, classic form|neurodegeneration with brain iron accumulation type 1, classic form|NBIA1, classic form	http://purl.obolibrary.org/obo/MONDO_0016304		ORPHA:216866|UMLS:CN201109
MONDO:0018967	short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia	biolink:Disease	mondo	Orphanet:632|ICD10:E23.0	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0018967		ORPHA:632
MONDO:0018966	obsolete isolated growth hormone deficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018966		
MONDO:0016305	atypical pantothenate kinase-associated neurodegeneration	biolink:Disease	mondo	UMLS:CN201110|Orphanet:216873|ICD10:G23.0	ordo_clinical_subtype	neurodegeneration with brain iron accumulation type 1, atypical form|PKAN, atypical form|NBIA1, atypical form	http://purl.obolibrary.org/obo/MONDO_0016305		ORPHA:216873|UMLS:CN201110
MONDO:0018961	familial melanoma	biolink:Disease	mondo	UMLS:C2314896|GARD:0003460|NCIT:C8498|Orphanet:618|ICD10:C43.8|ICD10:C43.7|DOID:6846|ICD10:C43.6|ICD10:C43.5|ICD10:C43.4|ICD10:C43.3|ICD10:C43.2|ICD10:C43.1|ICD10:C43.0	gard_rare|ordo_disease	hereditary melanoma (disease)	http://purl.obolibrary.org/obo/MONDO_0018961	Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family.	DOID:6846|NCIT:C8498|ORPHA:618|UMLS:C2314896
MONDO:0018960	congenital primary megaureter	biolink:Disease	mondo	GARD:0001492|GARD:0000219|SCTID:717459000|Orphanet:617|ICD10:Q62.2	ordo_morphological_anomaly|gard_rare	congenital megalo-ureter|congenital giant megaureter|congenital primary megalo-ureter|CGM	http://purl.obolibrary.org/obo/MONDO_0018960	Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing.	SNOMEDCT:717459000|ORPHA:617
MONDO:0018963	hereditary methemoglobinemia	biolink:Disease	mondo	SCTID:267550008|NCIT:C98898|ICD10:D74.0|GARD:0002659|UMLS:C0272087|MESH:C580280|Orphanet:621	ordo_disease	autosomal recessive methemoglobinemia|hereditary methemoglobinemia|congenital methemoglobinemia	http://purl.obolibrary.org/obo/MONDO_0018963	Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present.	SNOMEDCT:267550008|NCIT:C98898|UMLS:C0272087|ORPHA:621|MESH:C580280
MONDO:0016300	obsolete transposition of the great arteries	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016300		
MONDO:0016301	congenitally corrected transposition of the great arteries	biolink:Disease	mondo	UMLS:C3274488|SCTID:83799000|Orphanet:216694|MESH:C535426|ICD10:Q20.5|ICD9:745.12|MedDRA:10011120|GARD:0001544|NCIT:C98902	ordo_morphological_anomaly|gard_rare	levo-transposition of the great vessels|transposition of the great arteries, congenitally corrected|L-transposition of the great arteries|ventricular inversion|transposition of the great vessels, congenitally corrected|discordant ventriculoarterial and atrioventricular connections|L-transposition of the great vessels|Double discordance|ventriculoarterial and atrioventricular discordance|levo-transposition of the great arteries|congenitally corrected transposition of the great vessels	http://purl.obolibrary.org/obo/MONDO_0016301	Congenitally corrected transposition (CCT) of the great vessels is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations.	NCIT:C98902|UMLS:C3274488|ORPHA:216694|MEDDRA:10011120|SNOMEDCT:83799000|UMLS:C0344616|MESH:C535426
MONDO:0018962	common mesentery	biolink:Disease	mondo	ICD10:Q43.3|UMLS:C0266235|SCTID:52159006|Orphanet:620	ordo_morphological_anomaly	universal mesentery	http://purl.obolibrary.org/obo/MONDO_0018962		UMLS:C0266235|ORPHA:620|SNOMEDCT:52159006
MONDO:0004309	sarcomatosis	biolink:Disease	mondo	DOID:7615|NCIT:C4243|ICDO:8800/9|UMLS:C0334451		sarcomatosis NOS (morphologic abnormality)|sarcomatosis (morphologic abnormality)|sarcomatosis	http://purl.obolibrary.org/obo/MONDO_0004309	The occurrence of several sarcomas in different anatomic locations.	NCIT:C4243|UMLS:C0334451|DOID:7615
MONDO:0004328	maxillary sinus adenocarcinoma	biolink:Disease	mondo	SCTID:707339009|NCIT:C6240|UMLS:C1334642|DOID:7684		adenocarcinoma of maxillary sinus|maxillary sinus adenocarcinoma|adenocarcinoma of the maxillary sinus	http://purl.obolibrary.org/obo/MONDO_0004328	An adenocarcinoma that arises from the maxillary sinus. It is classified as intestinal-type or non-intestinal-type adenocarcinoma. Nasal obstruction and epistaxis are the presenting signs.	SNOMEDCT:707339009|NCIT:C6240|UMLS:C1334642|DOID:7684
MONDO:0004327	sphenoid sinus Schneiderian papilloma	biolink:Disease	mondo	NCIT:C6838|UMLS:C1336038|DOID:7679		Schneiderian papilloma of the sphenoid sinus|Schneiderian papilloma of sphenoid sinus|sphenoid sinus Schneiderian papilloma	http://purl.obolibrary.org/obo/MONDO_0004327	A papilloma that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It is classified as inverted papilloma and oncocytic papilloma.	UMLS:C1336038|NCIT:C6838|DOID:7679
MONDO:0006989	suppurative periapical periodontitis	biolink:Disease	mondo	MESH:D010482|UMLS:C0031024|DOID:2562|EFO:1001202|NCIT:C34913		periapical dental abscess|apical abscess|suppurative apical periodontitis|periapical abscess|dentoalveolar abscess	http://purl.obolibrary.org/obo/MONDO_0006989	Localized collection of pus in the tissues that enclose the root of a tooth.	MESH:D010482|DOID:2562|UMLS:C0031024|NCIT:C34913
MONDO:0004329	pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia	biolink:Disease	mondo	ICDO:8453/2|UMLS:C1518873|DOID:7685|NCIT:C41251		pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia|pancreatic non-invasive intraductal papillary-mucinous carcinoma|pancreatic intraductal papillary mucinous neoplasm with high grade dysplasia	http://purl.obolibrary.org/obo/MONDO_0004329	A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that exhibit loss of polarity, nuclear stratification, hyperchromasia, and pleomorphism. There is severe architectural atypia and frequent mitotic figures present.	UMLS:C1518873|NCIT:C41251|DOID:7685
MONDO:0004324	testicular fibroma	biolink:Disease	mondo	DOID:7675|UMLS:C1515282|NCIT:C39951			http://purl.obolibrary.org/obo/MONDO_0004324	A benign neoplasm that arises from the testis and is characterized by the presence of fusiform cells and collagenization.	NCIT:C39951|UMLS:C1515282|DOID:7675
MONDO:0006987	subvalvular aortic stenosis	biolink:Disease	mondo	DOID:5805|GARD:0005052|MedDRA:10042431|SCTID:204368006|UMLS:C0340375|EFO:1001199|MESH:D001020	gard_rare		http://purl.obolibrary.org/obo/MONDO_0006987	An aortic stenosis caused by fibromuscular stenosis or hypertrophic cardiomyopathy. It may be associated with congenital heart defects.	UMLS:C0340375|MESH:D001020|DOID:5805|SNOMEDCT:204368006|NCIT:C85172
MONDO:0006988	sulfhemoglobinemia	biolink:Disease	mondo	DOID:12451|MESH:D013436|EFO:1001200|SCTID:32117000|UMLS:C0038732|MedDRA:10042481		Sulfemoglobinemia	http://purl.obolibrary.org/obo/MONDO_0006988	A morbid condition due to the presence of sulfmethemoglobin in the blood. It is marked by persistent cyanosis, but the blood count does not reveal any special abnormality in the blood. It is thought to be caused by the action of hydrogen sulfide absorbed from the intestine. (Stedman, 25th ed)	DOID:12451|SNOMEDCT:32117000|MESH:D013436|UMLS:C0038732
MONDO:0004323	muscular atrophy	biolink:Disease	mondo	ICD9:728.2|SCTID:88092000|DOID:767|MESH:D009133		wasting - muscle|muscle wasting|amyotrophia	http://purl.obolibrary.org/obo/MONDO_0004323	The loss of muscle tissue due to inactivity or disease.	MESH:D009133|NCIT:C94834|DOID:767|SNOMEDCT:88092000
MONDO:0004326	sphenoid sinus inverted papilloma	biolink:Disease	mondo	UMLS:C1336037|NCIT:C6841|DOID:7678		sphenoidal sinus inverted papilloma|inverted papilloma of the sphenoid sinus|inverted papilloma of sphenoid sinus	http://purl.obolibrary.org/obo/MONDO_0004326	A benign neoplasm that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma.	UMLS:C1336037|NCIT:C6841|DOID:7678
MONDO:0006985	obsolete subependymoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006985		
MONDO:0006986	substernal goiter	biolink:Disease	mondo	MESH:D006045|DOID:13200|UMLS:C0018024|SCTID:66392007|EFO:1001198		retrosternal thyroid goiter	http://purl.obolibrary.org/obo/MONDO_0006986	An enlarged thyroid gland with at least 50% of the gland situated behind the sternum. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the trachea leading to deviation, narrowing, and respiratory symptoms.	SNOMEDCT:66392007|DOID:13200|MESH:D006045|UMLS:C0018024
MONDO:0004325	testicular thecoma	biolink:Disease	mondo	DOID:7676|UMLS:C1515299|NCIT:C39952		thecoma of testis|testis thecoma	http://purl.obolibrary.org/obo/MONDO_0004325	A rare benign tumor that arises from the testis and is characterized by the presence of lipid-rich neoplastic spindle cells.	NCIT:C39952|UMLS:C1515299|DOID:7676
MONDO:0006983	subclavian steal syndrome	biolink:Disease	mondo	DOID:13002|UMLS:C0038531|MESH:D013349|COHD:433505|SCTID:15258001|EFO:1001195|NCIT:C35044|ICD9:435.2|MedDRA:10042335		subclavian steal phenomenon|subclavian steal steno-occlusive disease|subclavian artery stenosis	http://purl.obolibrary.org/obo/MONDO_0006983	An uncommon neurovascular condition seen with exertion of the upper extremity. It is usually caused by atherosclerotic stenosis or occlusion of the subclavian artery proximal to the origin of the vertebral artery. In order to maintain adequate perfusion of the arm during exercise on the affected side, the narrowed subclavian artery siphons off retrograde blood flow from the ipsilateral vertebral artery. This is possible due to lower blood pressure distal to the site of narrowing and collateral circulation through the circle of Willis. Affected individuals may remain asymptomatic until the oxygen demand generated from upper extremity exercise requires a large enough compensatory volume of blood to be diverted from the vertebral artery to provoke vertebrobasilar insufficiency and its accompanying neurological sequelae. Presenting clinical signs may include pain or numbness of the affected arm (with diminished pulses and a brachial systolic blood pressure differential of greater than 20 mmHg as compared to the opposite arm), vertigo, tinnitus, dysarthria, diplopia and syncope. Notably, unlike cerebral infarction, the clinical course does not lead to chronic neurologic disability. Prognosis for recovery of normal anterograde circulation is favorable following endovascular or surgical intervention.	NCIT:C35044|MESH:D013349|UMLS:C0038531|SNOMEDCT:15258001|DOID:13002
MONDO:0004320	adult infiltrating astrocytic neoplasm	biolink:Disease	mondo	UMLS:C0281329|NCIT:C8289|DOID:7656		adult infiltrating astrocytoma|adult infiltrating astrocytic tumor|adult infiltrating astrocytic neoplasm	http://purl.obolibrary.org/obo/MONDO_0004320		DOID:7656|NCIT:C8289|UMLS:C0281329
MONDO:0006984	subdural empyema	biolink:Disease	mondo	MESH:D013354|UMLS:C0038539|SCTID:37660004|MedDRA:10042360|EFO:1001196|DOID:11389		subdural abscess	http://purl.obolibrary.org/obo/MONDO_0006984	An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the dura mater and the outer surface of the arachnoid.	SNOMEDCT:37660004|MESH:D013354|UMLS:C0038539|DOID:11389
MONDO:0006981	subacute bacterial endocarditis	biolink:Disease	mondo	SCTID:73774007|MESH:D004698|NCIT:C34583|MedDRA:10042271|UMLS:C0014122|DOID:4562|EFO:1001193		Subacute endocarditis, lenta|SBE|SBE - Subacute bacterial endocarditis|Subacute bacterial endocarditis|endocarditis lenta	http://purl.obolibrary.org/obo/MONDO_0006981	Subacute inflammation of the endocardium. Streptococcus viridans is the usual etiologic agent of subacute bacterial endocarditis. The distinction between "acute" and "subacute" endocarditis has traditionally been made based on the pathogenic organism and clinical presentation.	SNOMEDCT:73774007|MESH:D004698|UMLS:C0014122|NCIT:C34583|DOID:4562
MONDO:0004322	non-gestational ovarian choriocarcinoma	biolink:Disease	mondo	NCIT:C39991|DOID:7665|UMLS:C1518355			http://purl.obolibrary.org/obo/MONDO_0004322	A malignant germ cell tumor that arises from the ovary and is composed of cytotrophoblasts, syncytiotrophoblasts, and extravillous trophoblasts. The prognosis is less favorable than gestational choriocarcinoma.	NCIT:C39991|DOID:7665|UMLS:C1518355
MONDO:0006982	subacute thyroiditis	biolink:Disease	mondo	UMLS:C0040149|MedDRA:10042298|DOID:7165|ICD10:E06.1|COHD:132579|MESH:D013968|ICD9:245.1|SCTID:428041004|EFO:1001194|NCIT:C35828		granulomatous thyroiditis|Subacute granulomatous thyroiditis|De Quervain's thyroiditis|DeQuervain thyroiditis|de Quervain's thyroiditis|De Quervain thyroiditis|giant-cell thyroiditis|Subacute thyroiditis	http://purl.obolibrary.org/obo/MONDO_0006982	Self-limited inflammation of the thyroid gland characterized by the presence of multinucleated giant cells. Patients present with neck pain, often associated with fever and dysphagia. The clinical course includes an initial phase of hyperthyroidism, followed by a phase of hypothyroidism, and eventually a return to normal thyroid function.	DOID:7165|NCIT:C35828|MESH:D013968|UMLS:C0040149|SNOMEDCT:428041004
MONDO:0004321	endometrial mixed adenocarcinoma	biolink:Disease	mondo	UMLS:C1516856|NCIT:C40153|DOID:7664		endometrial mixed adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004321	An adenocarcinoma that arises from the endometrium and is characterized by the presence of both type I and type II endometrial adenocarcinoma components. The minor component constitutes at least 5% of the entire tumor.	NCIT:C40153|UMLS:C1516856|DOID:7664
MONDO:0006980	struma ovarii	biolink:Disease	mondo	NCIT:C7468|MESH:D013330|ICDO:9090/0|UMLS:C0038478|DOID:2640|EFO:1001192		struma ovarii NOS (morphologic abnormality)|struma ovarii (morphologic abnormality)|struma ovarii	http://purl.obolibrary.org/obo/MONDO_0006980	An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue. The aberrant thyroid tissue shows morphologic changes identical to thyroid adenoma or carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or Meigs syndrome (ascites and pleural effusion).	MESH:D013330|UMLS:C0038478|NCIT:C7468|DOID:2640
UBERON:2001364	hemal spine	biolink:AnatomicalEntity	mondo			hémacanthe|épine hémale|haemacanthe|haemal spine	http://purl.obolibrary.org/obo/UBERON_2001364	Hemal spines are extensions of hemal arches in the ventral skeletogenous septum of the caudal region.	
MONDO:0018958	nemaline myopathy	biolink:Disease	mondo	Orphanet:607|MESH:D017696|UMLS:C0206157|DOID:3191|OMIMPS:161800|SCTID:75072002|ICD10:G71.2|GARD:0012033	ordo_group_of_disorders	nemaline rod disease|NEM|nemaline rod myopathy|Rod-body myopathy|congenital rod disease|Rod body disease|rod myopathy|nemaline body disease|NM	http://purl.obolibrary.org/obo/MONDO_0018958	Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy.	DOID:3191|SNOMEDCT:75072002|MESH:D017696|UMLS:C0206157|ORPHA:607
MONDO:0018957	pudendal neuralgia	biolink:Disease	mondo	UMLS:CN226268|UMLS:C3178970|UMLS:C1997249|GARD:0010713|SCTID:427972000|Orphanet:60039|ICD10:M79.2|ICD9:729.2|MESH:D060545	gard_rare|ordo_disease	pudendal neuralgia by pudendal nerve entrapment|Alcock syndrome|neuralgia of pudendal nerve|pudendal nerve entrapment syndrome|pudendal nerve neuralgia|pudendal algia|Pudendalgia	http://purl.obolibrary.org/obo/MONDO_0018957	Pudendal neuralgia (PN) is a chronic neuropathic pain, aggravated by sitting and for which no organic cause can be found by imaging studies. It is often associated with pelvic dysfunction.	UMLS:C1997249|SNOMEDCT:427972000|UMLS:CN226268|MESH:D060545|ORPHA:60039|UMLS:C3178970
MONDO:0018959	potassium-aggravated myotonia	biolink:Disease	mondo	SCTID:702355008|MONDO:0012026|MESH:C538353|Orphanet:612|NCIT:C122788|UMLS:C2931826|ICD10:G71.1|GARD:0004459|OMIM:608390	ordo_group_of_disorders	Myotonia Permanens|K-aggravated myotonia|Myotonia Congenita, Atypical|Sodium Channel Muscle Disease|PAM|Potassium aggravated myotonia|Myotonia Congenita, Acetazolamide-Responsive|MYOTONIA, POTASSIUM-AGGRAVATED|Laryngospasm, Severe Neonatal Episodic|Myotonia Fluctuans|K+-aggravated myotonia	http://purl.obolibrary.org/obo/MONDO_0018959	Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia.	ORPHA:612|UMLS:C2931826|MESH:C538353|NCIT:C122788|http://identifiers.org/omim/608390|SNOMEDCT:702355008
MONDO:0018954	Loeys-Dietz syndrome	biolink:Disease	mondo	OMIMPS:609192|SCTID:446263001|ICD9:759.89|GARD:0010788|MESH:D055947|UMLS:C2697932|Orphanet:60030|DOID:0050466|NCIT:C75006|ICD10:Q87.4	clingen|ordo_malformation_syndrome	aortic aneurysm syndrome due to TGF-beta receptors anomalies|aortic aneurysm syndrome, Loeys-Dietz type	http://purl.obolibrary.org/obo/MONDO_0018954	Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.	UMLS:C2697932|SNOMEDCT:446263001|ORPHA:60030|NCIT:C75006|MESH:D055947|DOID:0050466
CHEBI:10545	electron	biolink:ChemicalSubstance	mondo			beta|e(-)|negatron|Elektron|e-|electron|e|beta(-)|beta-particle	http://purl.obolibrary.org/obo/CHEBI_10545	Elementary particle not affected by the strong force having a spin 1/2, a negative elementary charge and a rest mass of 0.000548579903(13) u, or 0.51099906(15) MeV.	
MONDO:0018953	parietal foramina	biolink:Disease	mondo	DOID:0060285|HP:0002697|ICD10:Q75.8|MESH:C566826|OMIMPS:168500|SCTID:718099006|Orphanet:60015	ordo_malformation_syndrome	catlin marks|enlarged parietal foramina|fenestrae parietales symmetricae|symmetric parietal foramina|hereditary cranium bifidum|foramina parietalia permagna|Caitlin marks	http://purl.obolibrary.org/obo/MONDO_0018953	Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies.	DOID:0060285|ORPHA:60015|MESH:C566826|SNOMEDCT:718099006
MONDO:0018956	idiopathic bronchiectasis	biolink:Disease	mondo	Orphanet:60033|SCTID:233629001|UMLS:C0339985|ICD10:J47	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018956	#160;(IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies).	UMLS:C0339985|SNOMEDCT:233629001|ORPHA:60033
MONDO:0018955	recurrent respiratory papillomatosis	biolink:Disease	mondo	GARD:0000111|Orphanet:60032|MESH:C535297|ICD9:078.19|NCIT:C128637|UMLS:C1168198|SCTID:472827002|MedDRA:10059314	ordo_disease|gard_rare	respiratory papillomatosis, recurrent|juvenile laryngeal papilloma|juvenile-onset recurrent respiratory papillomatosis (type)|laryngeal papilloma, recurrent|adult-onset recurrent respiratory papillomatosis (type)|JORRP (type)|RRP|AORRP (type)|recurrent respiratory papillomatosis	http://purl.obolibrary.org/obo/MONDO_0018955	Recurrent respiratory papillomatosis is a rare respiratory disease characterized by the development of exophytic papillomas, affecting the mucosa of the upper aero-digestive tract (with a strong predilection for the larynx), caused by an infection with human papilloma virus. Symptoms at presentation may include hoarseness, chronic cough, dyspnea, recurrent upper respiratory infections, pneumonia, dysphagia, stridor, and/or failure to thrive.	UMLS:C1168198|SNOMEDCT:472827002|ORPHA:60032|MEDDRA:10059314|MESH:C535297|NCIT:C128637
MONDO:0018950	3-methylcrotonyl-CoA carboxylase deficiency	biolink:Disease	mondo	SCTID:13144005|UMLS:C0268600|UMLS:CN239165|ICD10:E71.1|NCIT:C98674|GARD:0010954|DOID:0050710|OMIMPS:210200|Orphanet:6	ordo_disease	MCC deficiency|Methylcrotonyl-CoA carboxylase deficiency|3MCC deficiency|BMCC deficiency|3-methylcrotonylglycinuria|methylcrotonylglycinuria|MCCD|3-MCC deficiency	http://purl.obolibrary.org/obo/MONDO_0018950	3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.	NCIT:C98674|SNOMEDCT:13144005|UMLS:C0268600|UMLS:CN239165|ORPHA:6|DOID:0050710
MONDO:0018952	argyria	biolink:Disease	mondo	MESH:D001129|MedDRA:10003094|ICD10:T56.8|Orphanet:60014	ordo_disease	Silver staining	http://purl.obolibrary.org/obo/MONDO_0018952	Argyria is a rare dermatosis, which can be either localized or systemic, that occurs after prolonged contact and absorption of silver containing compounds over a period of years and that is characterized by irreversible blue-gray to gray-black staining of skin, fingernails and/or mucous membranes, most evident on sun exposed areas of the skin. Silver exposure is usually occupational but may also occur through dental amalgams, the ingestion of colloidal silver, acupuncture needles, orthopedic implants and topical medications (such as silver sulfadiazine).	UMLS:C0003782|MESH:D001129|ORPHA:60014|MEDDRA:10003094
MONDO:0018951	distal myopathy with vocal cord weakness	biolink:Disease	mondo	ICD10:G71.0|GARD:0001887|UMLS:CN205357|Orphanet:600	ordo_disease	VCPDM|distal myopathy 2|vocal cord and pharyngeal distal myopathy|MPD2|MATR3-related distal myopathy	http://purl.obolibrary.org/obo/MONDO_0018951	Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction.	UMLS:CN205357|ORPHA:600
MONDO:0006958	obsolete SAPHO syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006958		
MONDO:0006959	obsolete Schnitzler syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006959		
MONDO:0006956	Rickettsiosis	biolink:Disease	mondo	UMLS:C0035585|SCTID:37246009|MESH:D012282|EFO:1001162|ICD9:083.9|Orphanet:102021|MedDRA:10061495|NCIT:C34991	ordo_group_of_disorders	Rickettsia infectious disease|Rickettsia caused disease or disorder|Rickettsiae disease|Rickettsia disease or disorder|Rickettsial disease|infection, Rickettsia|Rickettsial infectious disorder|infections, Rickettsia|Rickettsial infectious disease|Rickettsia infection|Rickettsiosis	http://purl.obolibrary.org/obo/MONDO_0006956	A group of infectious diseases that is caused by Rickettsia.	MESH:D012282|NCIT:C34991|ORPHA:102021|UMLS:C0035585|SNOMEDCT:37246009
MONDO:0006957	root caries	biolink:Disease	mondo	MESH:D017213|SCTID:30512007|EFO:1001163|ICD9:521.08|DOID:14089|UMLS:C0162644		dental caries of root surface|root caries|cementum dental caries|cementum caries|dental caries of cementum	http://purl.obolibrary.org/obo/MONDO_0006957	Dental caries involving the tooth root, cementum, or cervical area of the tooth.	UMLS:C0162644|MESH:D017213|SNOMEDCT:30512007|DOID:14089
MONDO:0006954	obsolete rheumatic fever	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006954		
MONDO:0006955	rheumatic heart disease	biolink:Disease	mondo	ICD9:398.90|COHD:319825|ICD10:I05.I09|EFO:1001161|MedDRA:10062110|DOID:0050827|MESH:D012214|SCTID:23685000|NCIT:C34882|ICD9:398.99		RHD|heart disease, rheumatic|rheumatic carditis|disease, rheumatic heart	http://purl.obolibrary.org/obo/MONDO_0006955	An autoinflammatory condition following an infection with Group A Beta Hemolytic Streptococcus (GABHS), in which the heart is attacked by antibodies formed in reaction to a recent GABHS infection. Chief anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords, all of which can result in valvular dysfunction.	DOID:0050827|NCIT:C34882|SNOMEDCT:23685000|MESH:D012214
MONDO:0006952	retinopathy of prematurity	biolink:Disease	mondo	SCTID:415297005|Orphanet:90050|ICD10:H35.10|GARD:0005695|NCIT:C34982|COHD:373766|ICD10:H35.1|MedDRA:10038933|MESH:D012178|EFO:1001158|UMLS:C0035344|ICD9:362.21|ICD9:362.20|ICD10:H35.17|DOID:13025	ordo_disease	ROP|premature retinopathy|retrolental fibroplasia|Terry syndrome	http://purl.obolibrary.org/obo/MONDO_0006952	A bilateral retinopathy characterized by neovascularization, scarring, retinal detachment, and eventually blindness. It may be mild or severe. It occurs in babies born prematurely. Causes include oxygen toxicity and hypoxia.	NCIT:C34982|SNOMEDCT:415297005|UMLS:C0035344|MEDDRA:10038933|ORPHA:90050|MESH:D012178|DOID:13025
MONDO:0006953	Rh isoimmunization	biolink:Disease	mondo	MedDRA:10039016|UMLS:C0035404|SCTID:44795003|EFO:1001159|DOID:4175		Rh incompatibility affecting management of mother	http://purl.obolibrary.org/obo/MONDO_0006953	The mother develops antibodies against red blood cell Rhesus antigens. This may lead to potential fetal adverse outcomes such as anemia.	NCIT:C113150|SNOMEDCT:44795003|UMLS:C0035404|DOID:4175
MONDO:0006950	retinal vasculitis	biolink:Disease	mondo	ICD9:362.18|COHD:436403|SCTID:77628002|MedDRA:10038905|UMLS:C0152026|MESH:D031300|EFO:1001156|ICD10:H35.06|DOID:11563		retinal vasculitis	http://purl.obolibrary.org/obo/MONDO_0006950	Inflammation of the retinal vasculature with various causes including infectious disease; lupus erythematosus, systemic; multiple sclerosis; behcet syndrome; and chorioretinitis.	SNOMEDCT:77628002|DOID:11563|UMLS:C0152026|MESH:D031300
MONDO:0006951	retinal vein occlusion	biolink:Disease	mondo	SCTID:46085004|MESH:D012170|UMLS:C0035328|MedDRA:10038907|EFO:1001157|NCIT:C34981|DOID:1727		occlusion, of retinal vein|retinal vein occlusion	http://purl.obolibrary.org/obo/MONDO_0006951	An occlusion of the retinal vein.	UMLS:C0035328|SNOMEDCT:46085004|DOID:1727|MESH:D012170|NCIT:C34981
MONDO:0018939	muscle-eye-brain disease	biolink:Disease	mondo	ICD10:Q04.3|SCTID:277950001|GARD:0000156|Orphanet:588|ICD9:742.4	gard_rare|ordo_disease	MEB|muscle-eye-brain syndrome|muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3|muscle eye brain disease|MEB syndrome|Santavuori congenital muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0018939	Muscle eye brain disease (MEB) belongs to a group of genetic, degenerative muscular disorders that are present from birth (congenital muscular dystrophy). Individuals with this condition are born with muscle weakness (hypotonia), severe nearsightedness (myopia), glaucoma, and brain abnormalities. They also have developmental delay and intellectual disability, a buildup of fluid in the brain (hydrocephalus), and distinctive facial features. This condition is caused by mutations in the POMGNT1 gene and is inherited in an autosomal recessive manner. Although there is no specific treatment or cure for MEB, there are ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options for each person.	ORPHA:588|UMLS:C0457133|SNOMEDCT:277950001
UBERON:0003593	thoracic cavity connective tissue	biolink:AnatomicalEntity	mondo			textus connectivus of cavity of thorax|pectoral cavity portion of connective tissue|connective tissue of chest cavity|portion of connective tissue of chest cavity|cavity of chest portion of connective tissue|thoracic cavity portion of connective tissue|cavity of thorax connective tissue|cavity of thorax textus connectivus|connective tissue of thoracic cavity|portion of connective tissue of thoracic cavity|chest cavity portion of connective tissue|connective tissue of pectoral cavity|portion of connective tissue of cavity of chest|portion of connective tissue of pectoral cavity|connective tissue of cavity of chest|cavity of chest textus connectivus|pectoral cavity textus connectivus|textus connectivus of chest cavity|connective tissue of cavity of thorax|portion of connective tissue of cavity of thorax|thoracic cavity textus connectivus|chest cavity connective tissue|chest cavity textus connectivus|textus connectivus of thoracic cavity|cavity of thorax portion of connective tissue|pectoral cavity connective tissue|cavity of chest connective tissue|textus connectivus of cavity of chest|textus connectivus of pectoral cavity	http://purl.obolibrary.org/obo/UBERON_0003593	A portion of connective tissue that is part of a thoracic cavity [Automatically generated definition].	
MONDO:0018947	centronuclear myopathy	biolink:Disease	mondo	DOID:14717|GARD:0000101|ICD10:G71.2|Orphanet:595|SCTID:82077006|UMLS:C0175709|OMIMPS:160150	ordo_group_of_disorders|gard_rare	CNM|myotubular myopathy|myopathy, centronuclear|myopathy, myotubular	http://purl.obolibrary.org/obo/MONDO_0018947	Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy.	UMLS:C0175709|ORPHA:595|DOID:14717|SNOMEDCT:82077006
MONDO:0018946	rhombencephalosynapsis	biolink:Disease	mondo	SCTID:442300000|UMLS:C1866130|Orphanet:59315|ICD9:742.4|ICD10:Q04.3	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0018946	Rhombencephalosynapsis (RS) is a rare malformation of the cerebellum characterised by the association of agenesis (total or partial) of the vermis and fusion of the cerebellar hemispheres.	UMLS:C1866130|SNOMEDCT:442300000|ORPHA:59315
UBERON:0003594	pelvis connective tissue	biolink:AnatomicalEntity	mondo			pelvis textus connectivus|textus connectivus of pelvis|pelvis portion of connective tissue|portion of connective tissue of pelvis|connective tissue of pelvis	http://purl.obolibrary.org/obo/UBERON_0003594	A portion of connective tissue that is part of a pelvis [Automatically generated definition].	
MONDO:0018949	distal myopathy	biolink:Disease	mondo	Orphanet:599|DOID:11720|NCIT:C84675|UMLS:C0751336|SCTID:58795000|ICD10:G71.0	ordo_group_of_disorders	distal myopathy|Miyoshi muscular dystrophy|distal muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0018949	Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands.	ORPHA:599|UMLS:C0751336|DOID:11720|NCIT:C84675|SNOMEDCT:58795000
UBERON:0003591	lobar bronchus connective tissue	biolink:AnatomicalEntity	mondo			connective tissue of lobar bronchus|connective tissue of secondary bronchus	http://purl.obolibrary.org/obo/UBERON_0003591	A portion of connective tissue that is part of a lobar bronchus [Automatically generated definition].	
UBERON:0003592	bronchus connective tissue	biolink:AnatomicalEntity	mondo			connective tissue of bronchi|portion of connective tissue of bronchi|bronchus portion of connective tissue|connective tissue of bronchial trunk|portion of connective tissue of bronchial trunk|bronchial trunk portion of connective tissue|bronchial mesenchyme|bronchial connective tissue|connective tissue of bronchus|bronchi portion of connective tissue|portion of connective tissue of bronchus|bronchus textus connectivus|textus connectivus of bronchi|bronchial trunk textus connectivus|bronchi connective tissue|bronchial trunk connective tissue|textus connectivus of bronchus|bronchi textus connectivus|textus connectivus of bronchial trunk	http://purl.obolibrary.org/obo/UBERON_0003592	A portion of connective tissue that is part of a bronchus [Automatically generated definition].	
MONDO:0018948	multiminicore myopathy	biolink:Disease	mondo	GARD:0009130|Orphanet:598|UMLS:C0270962|SCTID:55133004|ICD10:G71.2	ordo_disease	multicore disease|multiminicore disease|MmD|multicore myopathy	http://purl.obolibrary.org/obo/MONDO_0018948	Multi-minicore Disease (MmD) is a hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy.	UMLS:C0270962|ORPHA:598|SNOMEDCT:55133004
MONDO:0018943	myofibrillar myopathy (disease)	biolink:Disease	mondo	ICD9:359.89|GARD:0010529|MESH:C580316|OMIMPS:601419|UMLS:C2678065|DOID:0080307|ICD10:G71.8|Orphanet:593|SCTID:699269005|HP:0003715|NCIT:C83009	ordo_group_of_disorders|clingen	Zaspopathy (type)|desmin related myopathy (former name)|desmin storage myopathy (former name)|Protein surplus myopathy (former name)|myotilinopathy (type)|myofibrillar myopathy|myofibrillar myopathies|Alpha Beta crystallinopathy (type)|filaminopathy (type)|Desminopathy (type)	http://purl.obolibrary.org/obo/MONDO_0018943	Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients.	MESH:C580316|NCIT:C83009|UMLS:C2678065|SNOMEDCT:699269005|DOID:0080307|ORPHA:593
UBERON:0003590	main bronchus connective tissue	biolink:AnatomicalEntity	mondo			bronchus principalis textus connectivus|connective tissue of principal bronchus|primary bronchus mesenchyme|bronchus principalis connective tissue|connective tissue of primary bronchus|principal bronchus mesenchyme|bronchus principalis portion of connective tissue|connective tissue of bronchus principalis|connective tissue of main bronchus	http://purl.obolibrary.org/obo/UBERON_0003590	A portion of connective tissue that is part of a main bronchus [Automatically generated definition].	
MONDO:0018942	macrophagic myofasciitis	biolink:Disease	mondo	UMLS:C2931639|GARD:0000176|ICD10:M60.8|MESH:C537829|SCTID:718175009|Orphanet:592	ordo_disease|gard_rare	MMF|Macrophagic myofasciitis, childhood	http://purl.obolibrary.org/obo/MONDO_0018942		UMLS:C2931639|SNOMEDCT:718175009|MESH:C537829|ORPHA:592
MONDO:0018945	McLeod neuroacanthocytosis syndrome	biolink:Disease	mondo	Orphanet:59306|HGNC:12811|ICD10:G10|SCTID:234411007|MESH:C564038|OMIM:300842|GARD:0010731|ICD9:289.89	gard_rare|ordo_disease	McLeod phenotype|X-linked McLeod syndrome|McLeod syndrome with chronic granulomatous disease|neuroacanthocytosis, McLeod type|McLeod syndrome|McLeod syndrome; MCLDS|MCLDS|MLS	http://purl.obolibrary.org/obo/MONDO_0018945	McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.	MESH:C564038|ORPHA:59306|SNOMEDCT:234411007|http://identifiers.org/omim/300842
MONDO:0018944	gestational trophoblastic neoplasm	biolink:Disease	mondo	MedDRA:10061988|GARD:0006498|ICD9:630|Orphanet:59305|UMLS:C1135868|DOID:3590|ICD10:O01.0|ICD10:O01|NCIT:C4699|SCTID:609519004|ICD10:O01.9	ordo_group_of_disorders	GTN|GTT|gestational trophoblastic neoplasia|molar pregnancy|gestational trophoblastic tumor|hydatidiform mole|gestational trophoblastic disease	http://purl.obolibrary.org/obo/MONDO_0018944	A diverse group of pregnancy-related tumors characterized by excessive proliferation of trophoblasts. Representative examples include hydatidiform mole, gestational choriocarcinoma, and placental site trophoblastic tumor.	DOID:3590|MEDDRA:10061988|ORPHA:59305|NCIT:C4699|UMLS:C1135868|SNOMEDCT:609519004|MESH:D031901
MONDO:0018941	furuncular myiasis	biolink:Disease	mondo	GARD:0002418|UMLS:C2931766|ICD10:B87.0|Orphanet:591|MESH:C538194	ordo_disease	furunculoid myiasis|furunculous myiasis	http://purl.obolibrary.org/obo/MONDO_0018941	Furuncular myiasis in humans is caused by two species: the Cayor worm (larvae of the African tumbu fly Cordylobia anthropophaga) and the larvae of the human botfly (Dermatobia hominis).	UMLS:C2931766|MESH:C538194|ORPHA:591
UBERON:0003599	tail connective tissue	biolink:AnatomicalEntity	mondo			textus connectivus of tail|post-vent region connective tissue|tail portion of connective tissue|post-vent region portion of connective tissue|portion of connective tissue of post-vent region|connective tissue of post-vent region|tail textus connectivus|connective tissue of tail|portion of connective tissue of tail|post-vent region textus connectivus|textus connectivus of post-vent region	http://purl.obolibrary.org/obo/UBERON_0003599	A portion of connective tissue that is part of a tail [Automatically generated definition].	
GO:0070257	positive regulation of mucus secretion	biolink:OntologyClass	mondo			positive regulation of mucus production	http://purl.obolibrary.org/obo/GO_0070257	Any process that activates or increases the frequency, rate or extent of the regulated release of mucus from a cell or a tissue.	
MONDO:0018940	congenital myasthenic syndrome	biolink:Disease	mondo	Orphanet:590|SCTID:230672006|GARD:0000098|MESH:D020294|UMLS:C0751882|ICD9:V17.89|NCIT:C84647|GARD:0011902|DOID:3635|OMIMPS:601462|ICD10:G70.2|ICD9:358.00	gard_rare|ordo_disease	CMS|myasthenia gravis congenital|myasthenic syndrome, congenital|familial limb-girdle myasthenia|myasthenia gravis pseudoparalytica|erb-Goldflam syndrome|congenital MG|congenital myasthenia	http://purl.obolibrary.org/obo/MONDO_0018940	Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.	DOID:3635|UMLS:C0751882|MESH:D020294|NCIT:C84647|SNOMEDCT:230672006|ORPHA:590
UBERON:0003597	manual digit connective tissue	biolink:AnatomicalEntity	mondo			connective tissue of finger|hand digit connective tissue|connective tissue of digit of hand|connective tissue of digitus manus|hand digit connective tissue|connective tissue of hand digit|fore limb digit connective tissue	http://purl.obolibrary.org/obo/UBERON_0003597	A portion of connective tissue that is part of a finger [Automatically generated definition].	
GO:0070255	regulation of mucus secretion	biolink:OntologyClass	mondo			regulation of mucus production	http://purl.obolibrary.org/obo/GO_0070255	Any process that modulates the frequency, rate or extent of the regulated release of mucus from a cell or a tissue.	
GO:0070256	negative regulation of mucus secretion	biolink:OntologyClass	mondo			negative regulation of mucus production	http://purl.obolibrary.org/obo/GO_0070256	Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of mucus from a cell or a tissue.	
UBERON:0003598	manus connective tissue	biolink:AnatomicalEntity	mondo			hand connective tissue|connective tissue of hand|connective tissue of terminal segment of free upper limb	http://purl.obolibrary.org/obo/UBERON_0003598	A portion of connective tissue that is part of a hand [Automatically generated definition].	
MONDO:0006949	retinal drusen	biolink:Disease	mondo	EFO:1001155|UMLS:C0035312|MESH:D015593|SCTID:247153005|MedDRA:10062776|DOID:2569|ICD9:362.57			http://purl.obolibrary.org/obo/MONDO_0006949	Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium.	SNOMEDCT:247153005|UMLS:C0035312|DOID:2569|MESH:D015593
UBERON:0003595	pes connective tissue	biolink:AnatomicalEntity	mondo			textus connectivus of pes|foot connective tissue|connective tissue of foot|connective tissue of terminal segment of free lower limb	http://purl.obolibrary.org/obo/UBERON_0003595	A portion of connective tissue that is part of a foot [Automatically generated definition].	
GO:0070253	somatostatin secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0070253	The regulated release of somatostatin from secretory granules in the D cells of the pancreas.	
GO:0070254	mucus secretion	biolink:OntologyClass	mondo			mucus production	http://purl.obolibrary.org/obo/GO_0070254	The regulated release of mucus by the mucosa. Mucus is a viscous slimy secretion consisting of mucins and various inorganic salts dissolved in water, with suspended epithelial cells and leukocytes. The mucosa, or mucous membrane, is the membrane covered with epithelium that lines the tubular organs of the body. Mucins are carbohydrate-rich glycoproteins that have a lubricating and protective function.	
UBERON:0003596	ankle connective tissue	biolink:AnatomicalEntity	mondo			connective tissue of ankle|tarsal region connective tissue	http://purl.obolibrary.org/obo/UBERON_0003596	A portion of connective tissue that is part of an ankle [Automatically generated definition].	
MONDO:0006969	sialadenitis	biolink:Disease	mondo	ICD10:K11.2|MedDRA:10040627|SCTID:42982001|MESH:D012793|ICD9:527.2|DOID:10303|COHD:29056|UMLS:C0037023|ICD10:K11.20|EFO:1001179|NCIT:C115165|GARD:0007638	gard_rare	saliva-secreting gland lymphadenitis (disease)|sialoadenitis|adenitis, salivary gland|salivary gland inflammation|sialitis|lymphadenitis (disease) of saliva-secreting gland	http://purl.obolibrary.org/obo/MONDO_0006969	Sialadenitis is an infection of the salivary glands. It is usually caused by a virus or bacteria. The parotid (in front ofthe ear) and submandibular (under the chin) glands are most commonly affected. Sialadenitis may be associated with pain, tenderness, redness, and gradual, localized swelling of the affected area. Sialadenitis most commonly affects the elderly and chronically ill especially those with dry mouth or who are dehydrated, but can also affected people of any age including newborn babies. Diagnosis is usually made by clinical exam but a CT scan, MRI scan or ultrasound may be done if the doctor suspects an abscess or to look for stones. Treatment may include an antibiotic (if bacterial), warm compresses, increasing fluid intake and good oral hygiene. Most salivary gland infections go away on their own or are cured with treatment. Complications are not common.	MESH:D012793|DOID:10303|UMLS:C0037023|SNOMEDCT:42982001|NCIT:C115165
MONDO:0004306	childhood intracortical osteosarcoma	biolink:Disease	mondo	DOID:7612|NCIT:C6590|UMLS:C1332974		childhood conventional osteosarcoma|childhood intracortical osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0004306	A high grade malignant bone-forming mesenchymal neoplasm that produces osteoid and occurs in childhood. It arises from the medullary portion of the bone. It affects the long bones, and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis.	UMLS:C1332974|NCIT:C6590|DOID:7612
MONDO:0004305	parathyroid oncocytic adenoma	biolink:Disease	mondo	DOID:7611|NCIT:C27393|UMLS:C1335351		parathyroid gland oncocytic adenoma|parathyroid oncocytic adenoma	http://purl.obolibrary.org/obo/MONDO_0004305	A parathyroid gland adenoma composed predominantly or entirely of neoplastic cells with abundant granular eosinophilic cytoplasm.	NCIT:C27393|UMLS:C1335351|DOID:7611
MONDO:0006967	obsolete septic abortion	biolink:Disease	mondo	MESH:D000031|MedDRA:10040056|EFO:1001177			http://purl.obolibrary.org/obo/MONDO_0006967		MESH:D000031
MONDO:0004308	meningeal sarcoma	biolink:Disease	mondo	NCIT:C4073|DOID:7614|UMLS:C0302327		meninges sarcoma|sarcoma of meningeal cluster|meningeal sarcoma|sarcoma of the meninges|sarcoma of meninges|meningeal cluster sarcoma	http://purl.obolibrary.org/obo/MONDO_0004308	A rare sarcoma arising from the meninges.	NCIT:C4073|DOID:7614|UMLS:C0302327
MONDO:0006968	shoulder impingement syndrome	biolink:Disease	mondo	MedDRA:10049039|ICD9:726.2|UMLS:C0376685|ICD10:M75.4|DOID:14276|SCTID:202849001|MESH:D019534|EFO:1001178		Impingement syndrome of shoulder region|subacromial impingement|shoulder impingement syndrome (disorder) [ambiguous]	http://purl.obolibrary.org/obo/MONDO_0006968	Compression of the rotator cuff tendons and subacromial bursa between the humeral head and structures that make up the coracoacromial arch and the humeral tuberosities. This condition is associated with subacromial bursitis and rotator cuff (largely supraspinatus) and bicipital tendon inflammation, with or without degenerative changes in the tendon. Pain that is most severe when the arm is abducted in an arc between 40 and 120 degrees, sometimes associated with tears in the rotator cuff, is the chief symptom. (From Jablonski's Dictionary of Syndromes and Eponymic Diseases, 2d ed)	SNOMEDCT:202849001|MESH:D019534|UMLS:C0376685|DOID:14276
MONDO:0004307	sarcomatosis of the meninges	biolink:Disease	mondo	DOID:7613|UMLS:C0334612|NCIT:C4334|ICDO:9539/3		meninges sarcomatosis|meningeal sarcomatosis (morphologic abnormality)|sarcomatosis of the meninges|sarcomatosis of meninges|meningeal cluster sarcomatosis|meningeal sarcomatosis	http://purl.obolibrary.org/obo/MONDO_0004307	A rare condition characterized by diffuse spread of sarcoma cells throughout the meninges. The neoplastic cells are derived from meningeal connective tissue. Clinically, this disorder may present as a fulminant pachymeningitis and/or encephalitis.	NCIT:C4334|UMLS:C0334612|DOID:7613
MONDO:0004302	chief cell adenoma	biolink:Disease	mondo	ICDO:8321/0|NCIT:C4154|UMLS:C0334320|DOID:7607		chief cell adenoma of the parathyroid|chief cell adenoma of parathyroid|parathyroid chief cell adenoma|chief cell adenoma of parathyroid gland|parathyroid gland chief cell adenoma|chief cell adenoma|chief cell adenoma of the parathyroid gland	http://purl.obolibrary.org/obo/MONDO_0004302	A parathyroid gland adenoma composed predominantly of neoplastic chief cells. These cells have either slightly eosinophilic or vacuolated cytoplasm, and round nuclei.	NCIT:C4154|UMLS:C0334320|DOID:7607
MONDO:0006965	secondary hypertrophic osteoarthropathy	biolink:Disease	mondo	SCTID:203357004|EFO:1001174|ICD10:M89.4|ICD9:731.2|UMLS:C0029412|MESH:D010005|DOID:10393		HPOA - hypertrophic pulmonary osteoarthropathy|hypertrophic pulmonary osteoarthropathy|hypertrophic pulmonary osteoarthropathy (disorder) [ambiguous]|Marie Bamberger disease|Bamberger-Marie disease	http://purl.obolibrary.org/obo/MONDO_0006965	Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed)	MESH:D010005|DOID:10393|UMLS:C0029412|SNOMEDCT:203357004
MONDO:0006966	secondary Parkinson disease	biolink:Disease	mondo	COHD:374013|EFO:1001175|MESH:D010302|NCIT:C34899|ICD9:332.1|ICD10:G21|UMLS:C0030569|SCTID:265377002|DOID:13548|ICD10:G21.9		secondary Parkinsonism|symptomatic parkinsonism|secondary parkinsonism, unspecified|secondary parkinsonism (disorder) [ambiguous]|disorder presenting primarily with parkinsonism	http://purl.obolibrary.org/obo/MONDO_0006966	A condition with a clinical picture similar to that of Parkinson disease, but which is caused by external factors, including medication.	DOID:13548|SNOMEDCT:265377002|MESH:D010302|UMLS:C0030569|NCIT:C34899
MONDO:0004301	fibrosarcomatous osteosarcoma	biolink:Disease	mondo	ICDO:9182/3|UMLS:C0279602|NCIT:C4020|ONCOTREE:FIOS|DOID:7603		fibroblastic osteogenic sarcoma|fibrosarcomatous osteosarcoma|FIOS|fibroblastic osteosarcoma (morphologic abnormality)|fibroblastic osteosarcoma|fibrosarcomatous osteogenic sarcoma	http://purl.obolibrary.org/obo/MONDO_0004301	A conventional osteosarcoma characterized by the presence of spindle shaped cells.	NCIT:C4020|DOID:7603|UMLS:C0279602
MONDO:0006963	sebaceous gland neoplasm	biolink:Disease	mondo	UMLS:C3805742|ICD9:239.2|EFO:1001172|MESH:D012626|SCTID:126491004|DOID:5759|NCIT:C3363|UMLS:C0036503		sebaceous neoplasm|sebaceous gland neoplasm|tumor of sebaceous gland|sebaceous tumor|sebaceous gland neoplasm (disease)|sebaceous gland tumor|neoplasm of sebaceous gland	http://purl.obolibrary.org/obo/MONDO_0006963	A benign or malignant neoplasm that arises from the sebaceous glands. Representative examples include sebaceous adenoma and sebaceous carcinoma.	UMLS:C0036503|SNOMEDCT:126491004|NCIT:C3363|UMLS:C3805742|DOID:5759|MESH:D012626
MONDO:0004304	mixed cell type adenoma of parathyroid	biolink:Disease	mondo	DOID:7610|UMLS:C0279701|NCIT:C7994		mixed cell type adenoma of parathyroid gland|mixed cell type adenoma of the parathyroid|mixed cell type adenoma of parathyroid|parathyroid gland mixed cell type adenoma|mixed cell type adenoma of the parathyroid gland|parathyroid mixed cell type adenoma	http://purl.obolibrary.org/obo/MONDO_0004304	A parathyroid gland adenoma that contains a mixture of neoplastic cells (chief cells, oncocytes, and clear cells).	NCIT:C7994|DOID:7610|UMLS:C0279701
MONDO:0006964	secondary hyperparathyroidism (disease)	biolink:Disease	mondo	NCIT:C113335|EFO:1001173|DOID:12466|COHD:138388|MESH:D006962|UMLS:C0020503|SCTID:91478007|MedDRA:10020708|HP:0000867		secondary hyperparathyroidism|secondary hyperparathyroidism NOS	http://purl.obolibrary.org/obo/MONDO_0006964	Overproduction of parathyroid hormone in response to influence external to the parathyroid glands.	SNOMEDCT:91478007|NCIT:C113335|DOID:12466|MESH:D006962|UMLS:C0020503
MONDO:0004303	parathyroid gland clear cell adenoma	biolink:Disease	mondo	NCIT:C7993|UMLS:C0279700|DOID:7609		clear cell adenoma of the parathyroid|parathyroid clear cell adenoma|parathyroid gland clear cell adenoma|clear cell adenoma of the parathyroid gland|transitional clear cell adenoma of the parathyroid gland|parathyroid gland transitional clear cell adenoma|clear cell adenoma of parathyroid gland|transitional clear cell adenoma of parathyroid gland|parathyroid transitional clear cell adenoma|transitional clear cell adenoma of the parathyroid|transitional clear cell adenoma of parathyroid|clear cell adenoma of parathyroid	http://purl.obolibrary.org/obo/MONDO_0004303	A parathyroid gland adenoma composed predominantly of neoplastic cells with clear cytoplasm.	NCIT:C7993|DOID:7609|UMLS:C0279700
MONDO:0006961	scrapie	biolink:Disease	mondo	UMLS:C0036457|MESH:D012608|DOID:5434|EFO:1001168			http://purl.obolibrary.org/obo/MONDO_0006961	A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called prions.	DOID:5434|MESH:D012608|UMLS:C0036457
MONDO:0006962	sebaceous adenocarcinoma	biolink:Disease	mondo	ONCOTREE:SEBA|ICDO:8410/3|EFO:1001171|UMLS:C0206684|DOID:4839|NCIT:C40310|SCTID:307599002|MESH:D018266|ICD10:C44|DOID:4840		Seba|sebaceous carcinoma|sebaceous cancer|carcinoma of the sebaceous gland|carcinoma of sebaceous gland|malignant sebaceous tumor|adenocarcinoma, sebaceous, malignant|sebaceous gland adenocarcinoma|adenocarcinoma of the sebaceous gland|sebaceous gland carcinoma|malignant neoplasm of sebaceous gland	http://purl.obolibrary.org/obo/MONDO_0006962	An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize.	MESH:D018266|SNOMEDCT:307599002|NCIT:C40310|UMLS:C0206684|DOID:4839|DOID:4840
MONDO:0004300	obsolete intracortical osteogenic sarcoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004300		
MONDO:0006960	sciatic neuropathy	biolink:Disease	mondo	SCTID:52585001|MESH:D020426|UMLS:C0149940|DOID:11446|EFO:1001166|MedDRA:10048950			http://purl.obolibrary.org/obo/MONDO_0006960	Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)	SNOMEDCT:52585001|DOID:11446|MESH:D020426|UMLS:C0149940
MONDO:0018929	medial condensing osteitis of the clavicle	biolink:Disease	mondo	Orphanet:57196|ICD10:M85.3|UMLS:CN230280|GARD:0010910	ordo_disease	condensing osteitis of the clavicle|condensing osteitis of the medial clavicle|osteitis condensans of the clavicle	http://purl.obolibrary.org/obo/MONDO_0018929		ORPHA:57196|UMLS:CN230280
MONDO:0018928	obsolete rare hepatic disease	biolink:Disease	mondo	Orphanet:57146|UMLS:CN205315	ordo_group_of_disorders|obsoletion_candidate	rare liver disease	http://purl.obolibrary.org/obo/MONDO_0018928	Rare liver disease.	ORPHA:57146|UMLS:CN205315
UBERON:0003582	nasopharynx connective tissue	biolink:AnatomicalEntity	mondo			connective tissue of nasal part of pharynx|portion of connective tissue of nasal part of pharynx|nasal part of pharynx textus connectivus|connective tissue of rhinopharynx|portion of connective tissue of rhinopharynx|nasopharynx textus connectivus|textus connectivus of nasopharynx|rhinopharynx portion of connective tissue|nasal part of pharynx connective tissue|textus connectivus of nasal part of pharynx|textus connectivus of rhinopharynx|nasal part of pharynx portion of connective tissue|rhinopharynx connective tissue|nasopharynx portion of connective tissue|portion of connective tissue of nasopharynx|connective tissue of nasopharynx|rhinopharynx textus connectivus	http://purl.obolibrary.org/obo/UBERON_0003582	A portion of connective tissue that is part of a nasopharynx [Automatically generated definition].	
MONDO:0018936	osteoblastoma (disease)	biolink:Disease	mondo	Orphanet:58040|ICD10:D16.1|ICD10:D16.0|ICDO:9200/0|NCIT:C3294|MedDRA:10004430|DOID:0060098|ICD10:D16.5|ICD10:D16.8|ICD10:D16.7|ICD10:D16.6|MESH:D018215|ICD10:D16.4|UMLS:C0029417|EFO:1000410|HP:0011846|ICD10:D16.3	ordo_disease	osteoblastoma, benign|giant osteoid osteoma|osteoblastoma|ossifying giant cell tumor	http://purl.obolibrary.org/obo/MONDO_0018936	A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent.	MEDDRA:10004430|MESH:D018215|DOID:0060098|UMLS:C0029417|ORPHA:58040|NCIT:C3294
MONDO:0018935	hairy cell leukemia	biolink:Disease	mondo	ICDO:9940/3|MedDRA:10019055|NCIT:C7402|MESH:D007943|SCTID:118613001|GARD:0006560|ONCOTREE:HCL|Orphanet:58017|EFO:1000956|MedDRA:10019053|ICD10:C91.40|ICD9:202.4|UMLS:C0023443|DOID:285|ICD10:C91.4	ordo_disease	leukemic reticuloendotheliosis|HCL-C|HCL|hairy cell leukemia|classic hairy cell leukemia	http://purl.obolibrary.org/obo/MONDO_0018935	Hairy cell leukemia (HCL) is a rare type of leukemia in which abnormal B-lymphocytes are present in the bone marrow, spleen and peripheral blood. It is a slowly progressive chronic lymphocytic leukemia (CLL). The name comes from the abnormally shaped lymphocytes with hair-like projections.	NCIT:C7402|MESH:D007943|UMLS:C0023443|SNOMEDCT:118613001|ORPHA:58017|MEDDRA:10019053|DOID:285
UBERON:0003583	larynx connective tissue	biolink:AnatomicalEntity	mondo			portion of connective tissue of larynx|connective tissue of larynx|larynx portion of connective tissue|textus connectivus of larynx|laryngeal connective tissue|larynx textus connectivus	http://purl.obolibrary.org/obo/UBERON_0003583	A portion of connective tissue that is part of a larynx [Automatically generated definition].	
UBERON:0003580	lower respiratory tract connective tissue	biolink:AnatomicalEntity	mondo			lower respiratory tract portion of connective tissue|textus connectivus of lower respiratory tract|lower respiratory tract textus connectivus|portion of connective tissue of lower respiratory tract|connective tissue of lower respiratory tract	http://purl.obolibrary.org/obo/UBERON_0003580	A portion of connective tissue that is part of a lower respiratory tract [Automatically generated definition].	
MONDO:0018938	mucopolysaccharidosis type 4	biolink:Disease	mondo	DOID:12804|ICD10:E76.210|GARD:0012562|UMLS:C0026707|SCTID:378007|NCIT:C61263|ICD10:E76.219|ICD10:E76.2|MedDRA:10028095|Orphanet:582	ordo_disease	MPSIV|mucopolysaccharidosis IV|mucopolysaccharidosis type IV|MPS IV - Morquio syndrome B|MPS IV - Morquio syndrome A|mucopolysaccharidosis, MPS-IV|mucopolysaccharidosis type 4|Morquio disease|chondroosteodystrophy|Osteochondrodystrophy|mucopolysaccharidosis type IVB|Morquio syndrome|mucopolysaccharidosis type IVA|MPS4|galactosamine-6-sulfatase deficiency|Morquio syndrome A|Morquio A disease|deficiency of N-acetylgalactosamine-6-sulphatase|mucopolysaccharidosis, MPS-IV-A|deficiency of chondroitinsulphatase	http://purl.obolibrary.org/obo/MONDO_0018938	Mucopolysaccharidosis type IV (MPS IV) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterised by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B.	SNOMEDCT:378007|UMLS:C0026707|ORPHA:582|MEDDRA:10028095|NCIT:C61263|DOID:12804|UMLS:C0086651|MESH:D009085
MONDO:0018937	mucopolysaccharidosis type 3	biolink:Disease	mondo	UMLS:C0026706|MedDRA:10056890|DOID:12801|GARD:0003807|SCTID:88393000|ICD10:E76.2|UMLS:CN205330|ICD10:E76.22|Orphanet:581|NCIT:C61262	ordo_disease	mucopolysaccharidosis, MPS-III|MPS IIID - Sanfilippo syndrome D|Sanfilippo disease|NAGLU deficiency|MPS IIIC - Sanfilippo syndrome C|N-acetyl-alpha-D-glucosaminidase deficiency|MPS IIIB - Sanfilippo syndrome B|MPSIII|mucopolysaccharidosis, MPS-III-B|heparan sulfate sulfatase deficiency|MPS IIIA - Sanfilippo syndrome A|N-sulphoglucosamine sulphohydrolase deficiency|Sanfilippo syndrome|Sanfilippo syndrome B|MPS3|Sanfilippo syndrome A|mucopolysaccharidosis type IIIB|mucopolysaccharidosis type IIIA|mucopolysaccharidosis III|mucopolysaccharidosis type III|Mucopoly-saccharidosis type 3|Sanfilippo's syndrome	http://purl.obolibrary.org/obo/MONDO_0018937	Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterised by severe and rapid intellectual deterioration.	UMLS:C0026706|ORPHA:581|NCIT:C61262|SNOMEDCT:88393000|UMLS:CN205330|DOID:12801|MEDDRA:10056890|MESH:D009084
UBERON:0003581	eyelid connective tissue	biolink:AnatomicalEntity	mondo			connective tissue of eyelid|connective tissue of blepharon|blepharon connective tissue	http://purl.obolibrary.org/obo/UBERON_0003581	A portion of connective tissue that is part of a eyelid [Automatically generated definition].	
MONDO:0018932	cirrhotic cardiomyopathy	biolink:Disease	mondo	UMLS:C4511053|ICD10:I42.8|Orphanet:57777|SCTID:725416005	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018932	Cirrhotic cardiomyopathy is the term used to describe a constellation of features indicative of abnormal heart structure and function in patients with cirrhosis. These include systolic and diastolic dysfunction, electrophysiological changes, and macroscopic and microscopic structural changes.	UMLS:C4511053|SNOMEDCT:725416005|ORPHA:57777
MONDO:0018931	mucolipidosis type III	biolink:Disease	mondo	UMLS:CN237499|Orphanet:423461|DOID:0080071|ICD10:E77.0|GARD:0003806|Orphanet:577|SCTID:65764006|OMIM:252600	ordo_clinical_subtype|ordo_disease|gard_rare	ML III alpha/beta|mucolipidosis III ALPHA/BETA|pseudo-Hurler polydystrophy|ML 3 Alpha/Beta|mucolipidosis type 3A|ML 3|MLIII|mucolipidosis III|mucolipidosis 3 Alpha/Beta, atypical|mucolipidosis type III alpha/beta|mucolipidosis 3 Alpha/Beta|mucolipidosis 3A|ML 3 alpha/beta|mucolipidosis 3|ML 3 A|mucolipidosis type 3 alpha/beta|ML3	http://purl.obolibrary.org/obo/MONDO_0018931	Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.	ORPHA:577|SNOMEDCT:65764006|UMLS:CN237499|http://identifiers.org/omim/252600|DOID:0080071|ORPHA:423461
NCBITaxon:9347	Eutheria	organism taxon	mondo	GC_ID:1		placentals|placental mammals|placentals|eutherian mammals|Placentalia	http://purl.obolibrary.org/obo/NCBITaxon_9347		
MONDO:0018934	obsolete mucopolysaccharidosis type 1	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018934		
MONDO:0018933	Mazabraud syndrome	biolink:Disease	mondo	UMLS:CN205323|SCTID:699251001|ICD10:M85.0|Orphanet:57782|ICD9:733.29|ICD9:215.9	ordo_malformation_syndrome	Myxoma with fibrous dysplasia	http://purl.obolibrary.org/obo/MONDO_0018933	Mazabraud syndrome is a rare primary bone dysplasia characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia is usually multifocal, typically occuring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported.	UMLS:CN205323|SNOMEDCT:699251001|ORPHA:57782
MONDO:0018930	monosomy 21	biolink:Disease	mondo	Orphanet:574|UMLS:C0795875|ICD10:Q93.0|NCIT:C36469|GARD:0010860|MESH:C537108	ordo_malformation_syndrome	chromosome 21q deletion|partial 21q monosomy|21q- syndrome|deletion 21q|21q deletion syndrome|monosomy type 21|monosomy 21q|partial monosomy 21q|21q deletion|21q monosomy	http://purl.obolibrary.org/obo/MONDO_0018930	Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit.	NCIT:C36469|MESH:C537108|UMLS:C0795875|ORPHA:574
UBERON:0003588	forelimb connective tissue	biolink:AnatomicalEntity	mondo			connective tissue of superior member|wing connective tissue|connective tissue of upper extremity|connective tissue of anteriormost limb|connective tissue of fore limb|connective tissue of forelimb	http://purl.obolibrary.org/obo/UBERON_0003588	A portion of connective tissue that is part of a forelimb [Automatically generated definition].	
UBERON:0003589	hindlimb connective tissue	biolink:AnatomicalEntity	mondo			connective tissue of inferior member|connective tissue of hind limb|connective tissue of hindlimb|connective tissue of lower extremity|hind limb connective tissue	http://purl.obolibrary.org/obo/UBERON_0003589	A portion of connective tissue that is part of a hindlimb [Automatically generated definition].	
UBERON:0003586	trunk connective tissue	biolink:AnatomicalEntity	mondo			textus connectivus of trunk|torso connective tissue|textus connectivus of torso|connective tissue of trunk|torso portion of connective tissue|portion of connective tissue of trunk|trunk portion of connective tissue|connective tissue of torso|portion of connective tissue of torso|torso textus connectivus|trunk textus connectivus	http://purl.obolibrary.org/obo/UBERON_0003586	A portion of connective tissue that is part of a trunk [Automatically generated definition].	
UBERON:0003587	limb connective tissue	biolink:AnatomicalEntity	mondo			textus connectivus of limb|limb portion of connective tissue|connective tissue of limb|portion of connective tissue of limb|limb textus connectivus	http://purl.obolibrary.org/obo/UBERON_0003587	A portion of connective tissue that is part of a limb [Automatically generated definition].	
UBERON:0003584	mammary gland connective tissue	biolink:AnatomicalEntity	mondo			lactiferous gland portion of connective tissue|connective tissue of lobe of mammary gland|lactiferous gland connective tissue|connective tissue of mammary gland|stroma of lactiferous gland|lactiferous gland stroma|connective tissue of lactiferous gland|mammary stroma|connective tissue of lobe of breast|mammary gland stroma	http://purl.obolibrary.org/obo/UBERON_0003584	The fibrous supportive tissue of the mammary gland.	
UBERON:0003585	dermis connective tissue	biolink:AnatomicalEntity	mondo			dermis textus connectivus|connective tissue of dermis|portion of connective tissue of dermis|dermis portion of connective tissue|textus connectivus of dermis	http://purl.obolibrary.org/obo/UBERON_0003585	A portion of connective tissue that is part of a dermis [Automatically generated definition].	
UBERON:0003609	aorta elastic tissue	biolink:AnatomicalEntity	mondo			elastic tissue of trunk of aortic tree|textus connectivus elasticus of adult aorta|aorta elastic lamina|aorta elastic connective tissue|elastic connective tissue of dorsal aorta|elastic connective tissue of aorta|elastic connective tissue of trunk of aortic tree|trunk of aortic tree textus connectivus elasticus|dorsal aorta textus connectivus elasticus|trunk of aortic tree elastic tissue|dorsal aorta elastic tissue|elastic tissue of aorta|adult aorta textus connectivus elasticus|adult aorta elastic connective tissue|aorta elastic laminae|elastic connective tissue of adult aorta|textus connectivus elasticus of aorta|adult aorta elastic tissue|dorsal aorta elastic connective tissue|textus connectivus elasticus of dorsal aorta|textus connectivus elasticus of trunk of aortic tree|trunk of aortic tree elastic connective tissue|aorta textus connectivus elasticus|elastic tissue of adult aorta|elastic tissue of dorsal aorta	http://purl.obolibrary.org/obo/UBERON_0003609	The dense connective tissue which contains predominantly elastic fibers and is found in the tunica media of the aorta wall.	
UBERON:0003607	forelimb long bone	biolink:AnatomicalEntity	mondo			upper extremity long bone|long bone of forelimb|anteriormost limb long bone|fore limb long bone|long bone of superior member|wing long bone|long bone of upper extremity|long bone of anteriormost limb|long bone of fore limb|superior member long bone	http://purl.obolibrary.org/obo/UBERON_0003607	A long bone that is part of a forelimb [Automatically generated definition].	
MONDO:0100040	FOXG1 disorder	biolink:Disease	mondo			inherited genetic disease caused by mutation in FOXG1|FOXG1 inherited genetic disease	http://purl.obolibrary.org/obo/MONDO_0100040	A monogenic disease that has material basis in mutation in the FOXG1 gene.	
UBERON:0003608	hindlimb long bone	biolink:AnatomicalEntity	mondo			lower extremity long bone|long bone of inferior member|long bone of hind limb|long bone of hindlimb|long bone of lower extremity|inferior member long bone|hind limb long bone	http://purl.obolibrary.org/obo/UBERON_0003608	A long bone that is part of a hindlimb [Automatically generated definition].	
UBERON:0003605	eye skin gland	biolink:AnatomicalEntity	mondo			skin glands set of vertebrate eye|skin glands of vertebrate eye|camera-type eye skin gland|skin gland of camera-type eye|camera-type eye skin glands set|camera-type eye skin glands|skin gland of vertebrate eye|skin glands of camera-type eye|vertebrate eye skin glands set|skin glands set of camera-type eye|vertebrate eye skin glands|vertebrate eye skin gland	http://purl.obolibrary.org/obo/UBERON_0003605	A skin gland that is part of a camera-type eye [Automatically generated definition].	
UBERON:0003606	limb long bone	biolink:AnatomicalEntity	mondo			long bone of limb	http://purl.obolibrary.org/obo/UBERON_0003606	A long bone that is part of a limb [Automatically generated definition].	
UBERON:0003603	lower respiratory tract cartilage	biolink:AnatomicalEntity	mondo			cartilage of lower respiratory tract	http://purl.obolibrary.org/obo/UBERON_0003603	A cartilage that is part of a lower respiratory tract [Automatically generated definition].	
UBERON:0003604	trachea cartilage	biolink:AnatomicalEntity	mondo			cartilago trachealis|cartilage of windpipe|cartilage of the trachea|cartilaginous ring of trachea|ring of the trachea|trachea ring|cartilagines tracheales|tracheal cartilage|tracheal ring|windpipe cartilage|cartilaginous trachea cartilage|cartilage of trachea	http://purl.obolibrary.org/obo/UBERON_0003604	the ring-shaped cartilaginous structures that support the trachea	
GO:0008443	phosphofructokinase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0008443	Catalysis of the transfer of a phosphate group, usually from ATP, to a phosphofructose substrate molecule.	
PO:0020003	plant ovule	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PO_0020003	A plant organ (PO:0009008) that has as parts a nucellus (PO:0020020) in which a female gametophyte (PO:0025279) is located, one or two integuments (PO:0020021), and a funicle (PO:0020006).	
UBERON:0003613	cardiovascular system elastic tissue	biolink:AnatomicalEntity	mondo			textus connectivus elasticus of cardiovascular system|circulatory system textus connectivus elasticus|circulatory system elastic connective tissue|textus connectivus elasticus of circulatory system|circulatory system elastic tissue|elastic tissue of circulatory system|cardiovascular system elastic connective tissue|elastic connective tissue of cardiovascular system|elastic connective tissue of circulatory system|elastic tissue of cardiovascular system|cardiovascular system textus connectivus elasticus	http://purl.obolibrary.org/obo/UBERON_0003613	An elastic tissue that is part of a circulatory system [Automatically generated definition].	
UBERON:0003610	heart elastic tissue	biolink:AnatomicalEntity	mondo			textus connectivus elasticus of heart|cardiac elastic tissue|heart elastic connective tissue|elastic connective tissue of heart|heart textus connectivus elasticus|elastic tissue of heart	http://purl.obolibrary.org/obo/UBERON_0003610	The type of heart connective tissue found in the endocardial layer that consists mainly of elastic fibers.	
UBERON:0003611	respiratory system elastic tissue	biolink:AnatomicalEntity	mondo			elastic connective tissue of respiratory system|apparatus respiratorius textus connectivus elasticus|apparatus respiratorius elastic connective tissue|elastic connective tissue of apparatus respiratorius|apparatus respiratorius elastic tissue|elastic tissue of apparatus respiratorius|textus connectivus elasticus of respiratory system|respiratory system elastic connective tissue|textus connectivus elasticus of apparatus respiratorius|respiratory system textus connectivus elasticus|elastic tissue of respiratory system	http://purl.obolibrary.org/obo/UBERON_0003611	An elastic tissue that is part of a respiratory system [Automatically generated definition].	
CHEBI:138103	inorganic acid	biolink:ChemicalSubstance	mondo			mineral acids|inorganic acids|mineral acid	http://purl.obolibrary.org/obo/CHEBI_138103	A Bronsted acid derived from one or more inorganic compounds. Inorganic acids (also known as mineral acids) form hydrons and conjugate base ions when dissolved in water.	
MONDO:0100051	idiopathic mast cell activation syndrome	biolink:Disease	mondo			idiopathic MACS	http://purl.obolibrary.org/obo/MONDO_0100051	Mast cell activation syndrome where neither an allergy or other underlying disease is association, nor KIT-mutated mast cells are detectable.	
MONDO:0100052	acetazolamide-responsive hereditary episodic ataxia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100052	Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days, with improvement upon therapy with acetazolamide.	
MONDO:0100053	anaphylaxis	biolink:Disease	mondo	NCIT:C107101		systemic anaphylaxis|anaphylactic shock	http://purl.obolibrary.org/obo/MONDO_0100053	An acute hypersensitivity reaction that occurs from exposure to an allergen. It results from the release of histamine and histamine-like substances from mast cells, and can present with breathing difficulty due to narrowed airways, dizziness and hypotension, skin rash, weak pulse, nausea and vomiting.	NCIT:C107101
MONDO:0100054	idiopathic anaphylaxis	biolink:Disease	mondo	SCTID:241954008			http://purl.obolibrary.org/obo/MONDO_0100054	Idiopathic anaphylaxis is a rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment.	SNOMEDCT:241954008
MONDO:0100056	exercise-induced anaphylaxis	biolink:Disease	mondo			EIAn	http://purl.obolibrary.org/obo/MONDO_0100056	A rare disorder in which anaphylaxis occurs in association with physical activity.	
GO:0008456	alpha-N-acetylgalactosaminidase activity	biolink:OntologyClass	mondo			alpha-galactosidase B activity|N-acetyl-alpha-galactosaminidase activity|alpha-NAGA activity|alpha-N-acetyl-D-galactosaminide N-acetylgalactosaminohydrolase activity|alpha-acetylgalactosaminidase activity|N-acetyl-alpha-D-galactosaminidase activity	http://purl.obolibrary.org/obo/GO_0008456	Catalysis of the hydrolysis of terminal non-reducing N-acetyl-D-galactosamine residues in N-acetyl-alpha-D-galactosaminides.	
MONDO:0100057	food-dependent exercise-induced anaphylaxis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100057	A subset of exercise-induced anaphylaxis in which symptoms develop if exertion takes place within a few hours of eating a specific food. In the case of food-dependent exercise-induced anaphylaxis, neither the food nor the exercise alone is enough to cause anaphylaxis.	
MONDO:0100058	hypervalinemia and hyperleucine-isoleucinemia	biolink:Disease	mondo	OMIM:618850		hypervalinemia and hyperleucine-isoleucinemia; HVLI|hypervalinemia and hyperleucine-isoleucinemia|HVLI|branched-chain aminotransferase deficiency	http://purl.obolibrary.org/obo/MONDO_0100058	Elevated levels of plasma valine and leucine/isoleucine levels, associated with symptoms of headache and mild memory loss and attributed to biallelic variants in the BCAT2 gene. BCAT2 encodes branched-chain aminotransferase 2 which catalyzes the transamination of the branched chain amino acids to their respective α-keto acids.	http://identifiers.org/omim/618850
MONDO:0100059	hypereosinophilia of undetermined significance	biolink:Disease	mondo			benign eosinophilia|HEUS	http://purl.obolibrary.org/obo/MONDO_0100059	Long-lasting, unexplained and asymptomatic blood hypereosinophilia.	
HGNC:1908	VPS13A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1908		
NCBITaxon:721805	Amygdaleae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_721805		
UBERON:0003601	neck cartilage	biolink:AnatomicalEntity	mondo			neck (volume) cartilage|cartilage of neck|cartilage of neck (volume)	http://purl.obolibrary.org/obo/UBERON_0003601	A cartilage that is part of a neck [Automatically generated definition].	
HGNC:1915	CHD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1915		
MONDO:0100061	PRPS1 deficiency disorder	biolink:Disease	mondo			PRPS1-related CMTX5/Arts syndrome/XLNSHL	http://purl.obolibrary.org/obo/MONDO_0100061	A peripheral neuropathy that is characterized by variants in PRPS1, which causes decreased or impaired function of the PRPS1 enzyme, and presents as a range of peripheral neuropathies that can include features of Charcot-Marie Tooth syndrome, Arts syndrome, or nonsyndromic hearing loss.	
MONDO:0100062	developmental and epileptic encephalopathy	biolink:Disease	mondo	ICD9:345.10|MedDRA:10071545|NCIT:C122814|DOID:0050709|GARD:0009255|ICD10:G40.82|SCTID:230429005|Orphanet:1934|ICD10:G40.3|EFO:1000643|ICD9:345.6|DOID:2481|OMIMPS:308350	ordo_clinical_syndrome|clingen	infantile epileptic encephalopathy|epileptic encephalopathy, early infantile|early infantile epileptic encephalopathy with burst-suppression|epileptic encephalopathy, infantile|infantile spasm|early infantile epileptic encephalopathy with suppression-bursts|Ohtahara syndrome|EIEE|developmental and epileptic encephalopathy|epileptic encephalopathy, early infantile, 15|early infantile epileptic encephalopathy	http://purl.obolibrary.org/obo/MONDO_0100062	A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity.	ORPHA:1934|DOID:0050709|DOID:2481|UMLS:C0393706|SNOMEDCT:230429005|MEDDRA:10071545|NCIT:C122814
MONDO:0100063	Pericytoma with t(7;12)	biolink:Disease	mondo			Pericytoma t(7;12)	http://purl.obolibrary.org/obo/MONDO_0100063	A rare soft tissue neoplasm that displays a perivascular pattern of spindle-to-ovoid cell proliferation.	
MONDO:0100064	tyrosine hydroxylase deficiency	biolink:Disease	mondo			tyrosine Hydroxylase deficiency|TH deficiency|tyrosine 3-monooxygenase deficiency	http://purl.obolibrary.org/obo/MONDO_0100064	Tyrosine hydroxylase (TH) deficiency is an autosomal recessive disorder characterized by a spectrum of phenotypic features, based on severity and response to levodopa. It can be broadly categorized into TH-deficient dopa-responsive dystonia (mild, with dramatic and sustained response to levodopa), TH-deficiency infantile parkinsonism with motor delay (severe, with incomplete response to levodopa), and TH-deficiency infantile encephalopathy (very severe, with little to no response to levodopa).	
HGNC:1912	CHAT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1912		
MONDO:0100065	TH-deficient infantile parkinsonism and motor delay	biolink:Disease	mondo			tyrosine hydroxylase infantile parkinsonism and motor delay	http://purl.obolibrary.org/obo/MONDO_0100065	A tyrosine hydroxylase deficiency with onset typically between age three and 12 months. Motor milestones are overtly delayed in this severe form. Affected infants demonstrate truncal hypotonia and parkinsonian symptoms and signs (hypokinesia, rigidity of extremities, and/or tremor).	
MONDO:0100066	TH-deficient progressive infantile encephalopathy	biolink:Disease	mondo			tyrosine hydroxylase-deficient progressive infantile encephalopathy	http://purl.obolibrary.org/obo/MONDO_0100066	A tyrosine hydroxylase deficiency in which individuals are extremely sensitive to levodopa therapy. In this very severe form, treatment with levodopa is often limited by intolerable dyskinesias.	
MONDO:0100068	SLC10A7-CDG	biolink:Disease	mondo			SLC10A7 deficiency|SLC10A7-Congenital Disorder of Glycosylation	http://purl.obolibrary.org/obo/MONDO_0100068	SLC10A7 deficiency is characterized by compound heterozygous mutations in the SLC10A7 gene, a gene of unknown function in humans. It combines overlapping clinical phenotypes characterized by short stature, defective enamel formation (amelogenesis imperfecta), skeletal dysplasia, facial dysmorphism, moderate hearing impairment and mildly impaired intellectual developmen.	
MONDO:0100069	hearing impairment and infertile male syndrome	biolink:Disease	mondo			HIIMS	http://purl.obolibrary.org/obo/MONDO_0100069	A syndromic genetic deafness characterized by segregation of nonsyndromic hearing loss in females and hearing loss with infertility in males. Affected males have been reported to have low count to absent sperm, immobile sperm, and/or sperm with abnormal morphology.	
HGNC:1919	CHD4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1919		
HGNC:1917	CHD2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1917		
NCBITaxon:721813	Maleae	organism taxon	mondo	GC_ID:1		Pyrodae|Pyreae	http://purl.obolibrary.org/obo/NCBITaxon_721813		
MONDO:0100070	neuroendocrine disease	biolink:Disease	mondo			neuroendocrine system disease	http://purl.obolibrary.org/obo/MONDO_0100070	A disease or disorder that affects the neuroendocrine gland, any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli.	
MONDO:0100071	cardiocutaneous syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100071	Cardiocutaneous syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern and autosomal recessive, which may lead to earlier and/or more severe phenotypic presentation.	
MONDO:0100072	neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100072	Neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts is characterized by the three primary phenotypes of neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts. Cases have reported additional varying phenotypes, including optic atrophy, hypothyroidism, severe neonatal hypotonia in males, developmental delay, facial abnormalities, and a few other more rare phenotypes. The severity and congenital onset of the phenotypes distinguish these patients from Wolfram-like syndrome patients.	
MONDO:0100073	methicillin-resistant staphylococcus aureus infectious disease	biolink:Disease	mondo			MRSA	http://purl.obolibrary.org/obo/MONDO_0100073	Infections caused by a strain of Staphylococcus aureus that is non-susceptible to the action of the antibiotic, methicillin. The mechanism of resistance usually involves modification of normal or the presence of acquired penicillin binding proteins.	
MONDO:0100074	norovirus infectious disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100074	Infections caused by viruses of the genus in the family caliciviridae, which is associated with epidemic gastroenteritis in humans.	
MONDO:0100075	jaw fracture	biolink:Disease	mondo			lower jaw fracture|upper jaw fracture	http://purl.obolibrary.org/obo/MONDO_0100075	A traumatic or pathologic injury to the jaw in which the continuity of the bone is broken.	
MONDO:0100076	juvenile idiopathic scoliosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100076	A scoliosis with no known cause arising in a juvenile.	
MONDO:0100078	resistant hypertension	biolink:Disease	mondo			drug resistant hypertension	http://purl.obolibrary.org/obo/MONDO_0100078	A severe medical condition which is estimated to appear in 9-18% of hypertensive patients, in which treatement with 3 or more antihypertensive drugs including diuretics are ineffective.	
MONDO:0100079	developmental and epileptic encephalopathy, 6	biolink:Disease	mondo	OMIM:607208		DEE6|EIEE6|epileptic encephalopathy, early infantile, 6	http://purl.obolibrary.org/obo/MONDO_0100079	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN1A gene.	http://identifiers.org/omim/607208
GO:0008434		biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0008434		
MONDO:0100081	sleep disorder	biolink:Disease	mondo	NCIT:C3376		parasomnia|sleep disturbances|disturbances, sleep|sleep disturbance	http://purl.obolibrary.org/obo/MONDO_0100081	A change from the patient's baseline sleeping pattern, in the hours slept and/or an alteration/dysfunction in the stages of sleep.	NCIT:C3376
MONDO:0100082	LEOPARD syndrome 1	biolink:Disease	mondo	DOID:0080548|OMIM:151100		LEOPARD syndrome type 1|multiple lentigines syndrome|lentiginosis, cardiomyopathic|LPRD1	http://purl.obolibrary.org/obo/MONDO_0100082	Any Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24.	DOID:0080548|http://identifiers.org/omim/151100
HGNC:1938	CHKB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1938		
MONDO:0041182	polymorphic light eruption	biolink:Disease	mondo	SCTID:238525001|UMLS:C0031736		polymorphic photodermatitis|polymorphous light eruption|polymorphic light eruption	http://purl.obolibrary.org/obo/MONDO_0041182		UMLS:C0031736|SNOMEDCT:238525001
MONDO:0100083	hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	biolink:Disease	mondo	OMIM:601399		thrombocytopenia, familial, with propensity to acute myelogenous leukemia|familial platelet disorder with associated myeloid malignancy|platelet disorder, aspirin-like|FPDMM|asprin-like platelet disorder|FPS/AML syndrome|platelet disorder, familial, with associated myeloid malignancy|FPD/AML syndrome|platelet disorder, familial, with associated myeloid malignancy; FPDMM|familial thrombocytopenia with propensity to acute myelogenous leukemia|familial platelet syndrome with predisposition to acute myelogenous leukemia	http://purl.obolibrary.org/obo/MONDO_0100083	This is an autosomal dominant disorder caused by mutations in the RUNX1 gene and is characterized by mild to moderate thrombocytopenia, platelet functional and/or ultrastructural defects and a predisposition to hematologic malignancies, most often AML and MDS, and less frequently T-ALL.	http://identifiers.org/omim/601399
MONDO:0100084	alpha-actinopathy	biolink:Disease	mondo			actin myopathy|alpha actinopathy|actinopathy|ACTA1 disease	http://purl.obolibrary.org/obo/MONDO_0100084	A musculoskeletal system disorder that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle α-actin gene (ACTA1). These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, myopathic face, respiratory dysfunction, and rarely cardiac involvement. Specific skeletal muscle structural lesions visible on muscle biopsy include actin accumulations, nemaline and intranuclear bodies, fiber-type disproportion, cores, caps, dystrophic features and zebra bodies. Disorders associated with ACTA1 pathogenic variants can have autosomal dominant (90%) or recessive (10%) inheritance.	
HGNC:1936	CHIT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1936		
UBERON:0003649	metacarpal bone of digit 5	biolink:AnatomicalEntity	mondo			metacarpal of 5 th digit of hand|hand digit 5 metacarpal bone|metacarpal bone of 5 th finger|5 th digit of hand metacarpal|metacarpal of fifth finger|manual digit 5 metacarpus|metacarpal of hand digit 5|metacarpal bone of 5 th digit of hand|metacarpal of 5 th finger|metacarpal bone of fifth finger|metacarpal bone of digit V|metacarpal V|5 th finger metacarpal bone|5 th finger metacarpal|metacarpal bone of hand digit 5|metacarpal 5|finger 5 metacarpus|fifth metacarpal bone|5 th digit of hand metacarpal bone|hand digit 5 metacarpal|forelimb digit 5 metacarpus|metacarpal bone digit 5|fifth finger metacarpal|fifth finger metacarpal bone	http://purl.obolibrary.org/obo/UBERON_0003649	A metacarpal bone that distally_connected_to a proximal phalanx of manual digit 5.	
MONDO:0100085	cancer of long bone of upper limb	biolink:Disease	mondo			long bones of upper limb cancer|malignant neoplasm of upper limb long bone|cancer of upper extremity long bone|cancer of long bone of forelimb|cancer of fore limb long bone|cancer of long bone of upper extremity|malignant upper limb long bone neoplasm|cancer of long bone of fore limb	http://purl.obolibrary.org/obo/MONDO_0100085	A cancer that involves the upper limb long bone.	
MONDO:0100086	perinatal disease	biolink:Disease	mondo			perinatal condition|perinatal disorder	http://purl.obolibrary.org/obo/MONDO_0100086	A condition affecting an unborn or newly born individual, where the perinatal period is defined in humans as commencing at 22 completed weeks (154 days) of gestation and ending seven completed days after birth. Other, broader definitions of perinatal period cover five months before birth to one month after birth.	
MONDO:0100087	familial Alzheimer disease	biolink:Disease	mondo			FAD|Alzheimer disease, familial|GARD:0000632	http://purl.obolibrary.org/obo/MONDO_0100087	A degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner.	
MONDO:0100088	late-onset familial alzheimer disease	biolink:Disease	mondo	GARD:0012799		Alzheimer disease type 2	http://purl.obolibrary.org/obo/MONDO_0100088	A form of familial Alzheimer disease, that begins after age 65.	
HGNC:1932	CHI3L1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1932		
MONDO:0100089	GATA1-Related X-Linked Cytopenia	biolink:Disease	mondo			GATA1-Related Cytopenia	http://purl.obolibrary.org/obo/MONDO_0100089	X-Linked cytopenia characterized by anemia and/or thrombocytopenia. Additional features including platelet dysfunction, dyserythropoesis, mild beta-thalassemia, neutropenia, or congenital erythropoetic porphyria may be present. These GATA1 variants are germline as opposed to GATA1 variants seen in leukemia.	
MONDO:0041186	Rowell syndrome	biolink:Disease	mondo	SCTID:238926009|UMLS:C0406637		Rowell's syndrome|lupus erythematosus and erythema multiforme-like syndrome	http://purl.obolibrary.org/obo/MONDO_0041186	A form of lupus erythematosus (discoid or systemic) with annular lesions of the skin like erythema multiforme associated with a characteristic pattern of immunological abnormalities.	SNOMEDCT:238926009|UMLS:C0406637
UBERON:0003656	mesopodium bone	biolink:AnatomicalEntity	mondo			basipodium bone|carpal/tarsal bone|mesopod bone|mesopodial bone	http://purl.obolibrary.org/obo/UBERON_0003656	A bone that is part of a mesopodial skeleton.	
HGNC:1940	CHM	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1940		
UBERON:0003657	limb joint	biolink:AnatomicalEntity	mondo			joint of limb|skeletal limb joint|joint of limb skeletal system	http://purl.obolibrary.org/obo/UBERON_0003657	Any joint that is part of a (free) limb.	
UBERON:0003654	metatarsal bone of digit 5	biolink:AnatomicalEntity	mondo			metatarsal V|metatarsal bone of digit V|metatarsal 5|toe 5 metatarsus|hindlimb digit 5 metatarsus|metatarsal bone of foot digit 5|toe 5 metatarsal|fifth metatarsal bone|metatarsal bone digit 5|foot digit 5 metatarsal bone	http://purl.obolibrary.org/obo/UBERON_0003654	A metatarsal bone that distally_connected_to a proximal phalanx of pedal digit 5.	
UBERON:0003650	metatarsal bone of digit 1	biolink:AnatomicalEntity	mondo			toe 1 metatarsal|hallux metatarsal bone|foot digit 1 metatarsal bone|metatarsal 1|metatarsal bone of hallux|metatarsal bone of foot digit 1|metatarsal bone of digit I|metatarsal I|hindlimb digit 1 metatarsus|first metatarsal bone|toe 1 metatarsus|metatarsal bone digit 1	http://purl.obolibrary.org/obo/UBERON_0003650	A metatarsal bone that distally_connected_to a proximal phalanx of pedal digit 1.	
MONDO:0100080	cardioectodermal syndrome	biolink:Disease	mondo			cardio-ectodermal syndrome	http://purl.obolibrary.org/obo/MONDO_0100080	Cardioectodermal syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern, or in an autosomal recessive inheritance pattern which may result in an earlier and/or more severe phenotypic presentation.	
MONDO:0100092	myoclonus, familial, 2	biolink:Disease	mondo	OMIM:618364		MYOCL2	http://purl.obolibrary.org/obo/MONDO_0100092	Familial cortical myoclonus caused by heterozygous mutation in the SCN8A gene on chromosome 12q13.	http://identifiers.org/omim/618364
MONDO:0100093	myoclonus, familial, 1	biolink:Disease	mondo	OMIM:614937		MYOCL1|FCM|myoclonus, familial cortical	http://purl.obolibrary.org/obo/MONDO_0100093	Familial cortical myoclonus caused by heterozygous mutation in the NOL3 gene on chromosome 16q22.	http://identifiers.org/omim/614937
MONDO:0100094	cannabinoid hyperemesis syndrome	biolink:Disease	mondo			CHS	http://purl.obolibrary.org/obo/MONDO_0100094	A syndrome of cyclic vomiting associated with cannabis use. Fourteen diagnostic characteristics have been identified, and the frequency of major characteristics is as follows: history of regular cannabis for any duration of time (100%), cyclic nausea and vomiting (100%), resolution of symptoms after stopping cannabis (96.8%), compulsive hot baths with symptom relief (92.3%), male predominance (72.9%), abdominal pain (85.1%), and at least weekly cannabis use (97.4%). Supportive care with intravenous fluids, dopamine antagonists, topical capsaicin cream, and avoidance of narcotic medications has shown some benefit in the acute setting. Cannabis cessation appears to be the best treatment.	
MONDO:0100095	neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	biolink:Disease	mondo	OMIM:618170|DOID:0070352		CONDSIAS|NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES; CONDSIAS	http://purl.obolibrary.org/obo/MONDO_0100095	Autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene.	DOID:0070352|http://identifiers.org/omim/618170
MONDO:0100096	COVID-19	biolink:Disease	mondo	ICD11:RA01.0|ICD10:U07.1|DOID:0080600|ICD11:RA01.2|MESH:C000657245|SCTID:840539006|ICD10:U07.2		beta-CoVs|β-coronavirus|coronavirus disease 2019|2019-nCoV infection|2019 novel coronavirus|β-CoVs|2019-nCoV|2019 novel coronavirus infection|betacoronavirus|β-CoV|severe acute respiratory syndrome coronavirus 2|SARS-coronavirus 2|SARS-CoV-2|beta-CoV	http://purl.obolibrary.org/obo/MONDO_0100096	A disease caused by infection with severe acute respiratory syndrome coronavirus 2.	MESH:C000657245|DOID:0080600|SNOMEDCT:840539006
UBERON:0003639	manual digit 5 phalanx	biolink:AnatomicalEntity	mondo			hand digit 5 long bone of digit|phalanx of fifth digit of hand|little finger phalanx|fifth finger phalanx|fifth finger long bone of digit|long bone of digit of 5 th digit of hand|phalanx of 5 th finger|5 th digit of hand digit long bone|hand digit 5 phalanx|5 th digit of hand long bone of digit|fifth finger digit long bone|long bone of digit of fifth finger|phalanx of manual digitus minimus|hand digit 5 digit long bone|long bone of digit of hand digit 5|phalanx of 5 th digit of hand|long bone of digit of 5 th finger|phalanx of fifth finger|phalanx of little finger|5 th finger phalanx|phalanx of hand digit 5|digit long bone of 5 th digit of hand|5 th finger long bone of digit|phalanx of 5th finger|manual digit V phalanx|fore limb digit 5 phalanx|digit long bone of fifth finger|hand digit 5 phalanx|digit long bone of hand digit 5|5 th finger digit long bone|5 th digit of hand phalanx|digit long bone of 5 th finger	http://purl.obolibrary.org/obo/UBERON_0003639	A phalanx that is part of a hand digit 5 [Automatically generated definition].	
HGNC:1943	CHN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1943		
GO:0045444	fat cell differentiation	biolink:OntologyClass	mondo			adipocyte differentiation|adipose cell differentiation|adipogenesis|adipocyte cell differentiation	http://purl.obolibrary.org/obo/GO_0045444	The process in which a relatively unspecialized cell acquires specialized features of an adipocyte, an animal connective tissue cell specialized for the synthesis and storage of fat.	
UBERON:0003645	metacarpal bone of digit 1	biolink:AnatomicalEntity	mondo			first digit of hand metacarpal|thumb metacarpal|metacarpal bone digit 1|hand digit 1 metacarpal bone|metacarpal I|metacarpal bone of digit I|metacarpal bone of thumb|finger 1 metacarpus|metacarpal bone of first digit of hand|metacarpal of hand digit 1|metacarpal of thumb|metacarpal of first digit of hand|hand digit 1 metacarpal|forelimb digit 1 metacarpus|metacarpal bone of hand digit 1|thumb metacarpal bone|metacarpal 1|first digit of hand metacarpal bone|manual digit 1 metacarpus|first metacarpal bone	http://purl.obolibrary.org/obo/UBERON_0003645	A metacarpal bone that distally_connected_to a proximal phalanx of manual digit 1.	
HGNC:1952	CHRM3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1952		
NCBITaxon:452284	Ustilaginomycotina	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_452284		
UBERON:0003643	respiratory system arterial blood vessel	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0003643	An arterial blood vessel that is part of a respiratory system [Automatically generated definition].	
UBERON:0003644	kidney arterial blood vessel	biolink:AnatomicalEntity	mondo			kidney arterial system	http://purl.obolibrary.org/obo/UBERON_0003644	An arterial blood vessel that is part of a kidney [Automatically generated definition].	
UBERON:0003640	pedal digit 1 phalanx	biolink:AnatomicalEntity	mondo			phalanx of first toe|foot digit 1 phalanx|hallux phalanx|phalanx of first digit of foot|big toe phalanx|long bone of digit of foot digit 1|hind limb digit 1 phalanx|hallux digit long bone|foot digit 1 digit long bone|long bone of digit of hallux|foot digit 1 long bone of digit|hallux long bone of digit|phalanx of foot digit 1|phalanx of hallux|digit long bone of foot digit 1|digit long bone of hallux|foot digit 1 phalanx|phalanx of big toe|pedal digit I phalanx|phalanx of great toe	http://purl.obolibrary.org/obo/UBERON_0003640	A phalanx that is part of a foot digit 1 [Automatically generated definition].	
MONDO:0100091	inherited pseudoxanthoma elasticum	biolink:Disease	mondo	GARD:0009643	gard_rare	inherited Gronblad Strandberg syndrome|inherited PXE	http://purl.obolibrary.org/obo/MONDO_0100091	An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician.	
HGNC:1958	CHRNA4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1958		
HGNC:1955	CHRNA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1955		
HGNC:1956	CHRNA2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1956		
UBERON:0003625	manual digit 5	biolink:AnatomicalEntity	mondo			manus digiti minimi|little finger|manual digit V|fore limb digit 5|hand digit 5|manual digitus V|fifth finger|manual digitus minimus|hand digit 5|5th finger|digit 5 of fore-paw|fore digit V|finger 5|5th digit of hand|manus quintus|fifth digit of hand	http://purl.obolibrary.org/obo/UBERON_0003625	5th digit of the manus.	
GO:0045453	bone resorption	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0045453	The process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products.	
OBO:so#derives_from	derives_from	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/so#derives_from		
HGNC:1962	CHRNB2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1962		
UBERON:0003635	pedal digit 5	biolink:AnatomicalEntity	mondo			pedal digitus minimus|hind digit 5|digitus minimus pedis|little toe|digitus quintus [V]|foot digit 5|digitus V of pes|5th toe|digitus quintus (V) pedis|digitus minimus; digitus quintus [v]|digitus quintus of pes|pes digit V|fifth toe|foot digit 5|digitus quintus [V] pedis|toe 5|pedal digit V|hind limb digit 5|digitus quintus pedis|digit 5 of hind-paw|fifth digit of foot|hind digit V	http://purl.obolibrary.org/obo/UBERON_0003635	5th digit of the hind autopod.	
HGNC:1960	CHRNA7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1960		
HGNC:1961	CHRNB1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1961		
UBERON:0003631	pedal digit 1	biolink:AnatomicalEntity	mondo			great toe|digit 1 of hind-paw|digit 1 of pes|first toe|hind digit 1|digitus primus (I) pedis|pes digit I|hindlimb dewclaw|digitus primus pedis|foot digit 1|pedal digit I|large toe|big toe|hind digit I|foot digit 1|hallex|hallux|toe 1|hind limb digit 1|preaxial digit of hindlimb|hallux; digitus primus [I]|pedal digit 1	http://purl.obolibrary.org/obo/UBERON_0003631	1st digit of the hind autopod.	
UBERON:0003618	aorta tunica media	biolink:AnatomicalEntity	mondo			tunica media of trunk of aortic tree|tunica media of aorta|trunk of aortic tree tunica media|dorsal aorta tunica media|tunica media of adult aorta|adult aorta tunica media|tunica media of dorsal aorta	http://purl.obolibrary.org/obo/UBERON_0003618	The middle layer of the aorta wall, containing the smooth muscle layer and elastic fibers.	
HGNC:1968	LYST	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1968		
UBERON:0003619	aorta tunica intima	biolink:AnatomicalEntity	mondo			tunica intima of adult aorta|dorsal aorta tunica intima|trunk of aortic tree tunica intima|tunica intima of dorsal aorta|tunica intima of trunk of aortic tree|tunica intima of aorta|adult aorta tunica intima	http://purl.obolibrary.org/obo/UBERON_0003619	The innermost layer of the aorta, containing the endothelium and an inner elastic membrane.	
UBERON:0003616	bronchus elastic tissue	biolink:AnatomicalEntity	mondo			bronchial trunk elastic tissue|elastic tissue of bronchi|elastic tissue of bronchial trunk|elastic tissue of bronchus|bronchi elastic tissue|textus connectivus elasticus of bronchi|textus connectivus elasticus of bronchial trunk|elastic connective tissue of bronchus|bronchi elastic connective tissue|bronchus textus connectivus elasticus|bronchial trunk elastic connective tissue|elastic connective tissue of bronchi|bronchial trunk textus connectivus elasticus|elastic connective tissue of bronchial trunk|bronchus elastic connective tissue|bronchi textus connectivus elasticus|textus connectivus elasticus of bronchus	http://purl.obolibrary.org/obo/UBERON_0003616	An elastic tissue that is part of a bronchus [Automatically generated definition].	
OBO:mondo#EXCLUDE	Synonym to be removed from public release but maintained in edit version as record of external usage	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/mondo#EXCLUDE		
HGNC:1966	CHRNE	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1966		
UBERON:0003617	trachea elastic tissue	biolink:AnatomicalEntity	mondo			cartilaginous trachea elastic tissue|windpipe textus connectivus elasticus|elastic connective tissue of windpipe|elastic tissue of vertebrate trachea|elastic tissue of cartilaginous trachea|windpipe elastic tissue|elastic connective tissue of vertebrate trachea|textus connectivus elasticus of cartilaginous trachea|textus connectivus elasticus of windpipe|windpipe elastic connective tissue|vertebrate trachea textus connectivus elasticus|cartilaginous trachea textus connectivus elasticus|cartilaginous trachea elastic connective tissue|elastic tissue of windpipe|elastic connective tissue of cartilaginous trachea|textus connectivus elasticus of vertebrate trachea|vertebrate trachea elastic connective tissue|vertebrate trachea elastic tissue	http://purl.obolibrary.org/obo/UBERON_0003617	An elastic tissue that is part of a trachea [Automatically generated definition].	
HGNC:1967	CHRNG	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1967		
UBERON:0003614	blood vessel elastic tissue	biolink:AnatomicalEntity	mondo			vascular elastic lamina|elastic laminae|vascular elastic laminae|blood vessel elastic connective tissue|textus connectivus elasticus of blood vessel|blood vessel textus connectivus elasticus|elastic tissue of blood vessel|elastic lamina|elastic connective tissue of blood vessel|vascular elastic tissue	http://purl.obolibrary.org/obo/UBERON_0003614	Elastic tissue layer that lines a blood vessel layer.	
UBERON:0003615	lung elastic tissue	biolink:AnatomicalEntity	mondo			elastic tissue of lung|pulmonary elastic fiber|elastic connective tissue of lung|lung textus connectivus elasticus|lung elastic connective tissue|textus connectivus elasticus of lung	http://purl.obolibrary.org/obo/UBERON_0003615	Elastic tissue that is part of a lung [Automatically generated definition].	
HGNC:1965	CHRND	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1965		
CHEBI:22492	amino aldehyde	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_22492	Any aldehyde which contains an amino group.	
HGNC:1974	CHUK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1974		
HGNC:1971	CHST3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1971		
UBERON:0003620	manual digit 1 phalanx	biolink:AnatomicalEntity	mondo			hand digit 1 phalanx|phalanx of thumb|manual digit I phalanx|thumb phalanx|phalanx of hand digit 1|fore limb digit 1 phalanx|hand digit 1 phalanx	http://purl.obolibrary.org/obo/UBERON_0003620	A phalanx that is part of a hand digit 1 [Automatically generated definition].	
MONDO:0016180	hematological disease associated with an acquired peripheral neuropathy	biolink:Disease	mondo	Orphanet:209016|UMLS:CN200930	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016180		UMLS:CN200930|ORPHA:209016
MONDO:0016181	solid tumor associated with an acquired peripheral neuropathy	biolink:Disease	mondo	Orphanet:209019|UMLS:CN200931	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016181		UMLS:CN200931|ORPHA:209019
MONDO:0016182	qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase	biolink:Disease	mondo	Orphanet:209024	ordo_group_of_disorders	qualitative or quantitative defects of protein POMGNT1	http://purl.obolibrary.org/obo/MONDO_0016182		ORPHA:209024
MONDO:0016183	qualitative or quantitative defects of protein glycosyltransferase-like	biolink:Disease	mondo	Orphanet:209027	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016183		ORPHA:209027
MONDO:0004199	vulvar keratinizing squamous cell carcinoma	biolink:Disease	mondo	UMLS:C2109334|NCIT:C40284|DOID:7363		vulvar keratinizing squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004199	A squamous cell carcinoma that arises from the vulva and is characterized by the presence of keratin pearls.	NCIT:C40284|DOID:7363|UMLS:C2109334
MONDO:0004198	testicular yolk sac tumor, solid pattern	biolink:Disease	mondo	NCIT:C39925|DOID:7360|UMLS:C1515312		solid pattern testicular yolk sac tumor|testicular yolk sac tumor, solid pattern	http://purl.obolibrary.org/obo/MONDO_0004198	A yolk sac tumor that arises from the testis and is characterized by the presence of aggregates of polygonal malignant cells with clear cytoplasm and prominent nucleoli.	DOID:7360|UMLS:C1515312|NCIT:C39925
MONDO:0004195	thymic dysplasia	biolink:Disease	mondo	DOID:7350|UMLS:C1331541|NCIT:C27802			http://purl.obolibrary.org/obo/MONDO_0004195	The developmental arrest and architectural distortion of the thymus that results in immunodeficiency.	UMLS:C1331541|NCIT:C27802|DOID:7350
MONDO:0004194	ovarian stromal hyperthecosis	biolink:Disease	mondo	UMLS:C1518743|NCIT:C40446|DOID:7347			http://purl.obolibrary.org/obo/MONDO_0004194	A non-neoplastic disorder that usually affects postmenopausal women. It is characterized by the leuteinization of ovarian stromal cells. The ovaries are bilaterally involved and enlarged. When it affects women in reproductive age, it causes virilization, high blood pressure, and increased insulin levels.	NCIT:C40446|UMLS:C1518743|DOID:7347
MONDO:0004197	male urethral cancer	biolink:Disease	mondo	DOID:736|UMLS:C1518164|NCIT:C39867		malignant neoplasm of male urethra|male urethra cancer|Male urethral malignant neoplasm|cancer of male urethra|malignant male urethra neoplasm	http://purl.obolibrary.org/obo/MONDO_0004197	A cancer involving a male urethra.	DOID:736|UMLS:C1518164|NCIT:C39867
MONDO:0004196	rectal sarcomatoid carcinoma	biolink:Disease	mondo	UMLS:C1335689|DOID:7356|NCIT:C5556		sarcomatoid carcinoma of the rectum|rectum sarcomatoid carcinoma|rectal sarcomatoid carcinoma|sarcomatoid carcinoma of rectum|rectal spindle cell carcinoma|rectal sarcomatoid cancer	http://purl.obolibrary.org/obo/MONDO_0004196	A biphasic rectal carcinoma with a spindle cell, sarcomatoid component.	NCIT:C5556|UMLS:C1335689|DOID:7356
MONDO:0004191	nephrogenic adenoma	biolink:Disease	mondo	NCIT:C7413|DOID:7334|UMLS:C0334039		nephrogenic adenoma	http://purl.obolibrary.org/obo/MONDO_0004191	So-called nephrogenic adenoma is a distinct metaplastic lesion of the urothelium characterized by aggregates of cuboidal or hobnail cells. These cells line thin papillary fronds on the surface or form tubular structures within the lamina propria.	NCIT:C7413|NCIT:C97097|UMLS:C0334039|DOID:7334
MONDO:0004190	nephrogenic adenoma of urinary bladder	biolink:Disease	mondo	UMLS:C1336892|DOID:7333|NCIT:C7415		nephrogenic adenoma of the urinary bladder|urinary bladder nephrogenic adenoma	http://purl.obolibrary.org/obo/MONDO_0004190	A metaplastic lesion of the urothelium found in the urinary bladder. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi.	NCIT:C7415|UMLS:C1336892|DOID:7333
MONDO:0004193	pediatric ovarian dysgerminoma	biolink:Disease	mondo	UMLS:C1332988|NCIT:C6550|DOID:7340		pediatric dysgerminoma of ovary|dysgerminoma of ovary of childhood|childhood ovarian dysgerminoma|pediatric dysgerminoma of ovary|childhood dysgerminoma|childhood ovarian germinomatous germ cell tumor|childhood dysgerminoma of ovary	http://purl.obolibrary.org/obo/MONDO_0004193	A dysgerminoma that arises from the ovary and occurs in children.	UMLS:C1332988|NCIT:C6550|DOID:7340
HGNC:26090	CCDC40	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26090		
MONDO:0004192	urethra cancer	biolink:Disease	mondo	SCTID:363459007|DOID:734|ICD9:189.3|GARD:0009390|NCIT:C7507|ONCOTREE:UCA|ICD10:C68.0		malignant urethra neoplasm|malignant neoplasm of urethra|malignant tumour of urethra|malignant neoplasm of the urethra|malignant urethra tumor|urethral Ca|urethral cancer|malignant tumor of the urethra|urethra cancer|malignant tumor of urethra|cancer of urethra|malignant urethral neoplasm|malignant urethral tumor	http://purl.obolibrary.org/obo/MONDO_0004192	A malignant neoplasm involving the urethra	DOID:734|SNOMEDCT:363459007|NCIT:C7507
ECTO:9001935	oxidising agent exposure	biolink:OntologyClass	mondo			exposure to oxidising agent	http://purl.obolibrary.org/obo/ECTO_9001935	An exposure to oxidising agent.	
MONDO:0016188	qualitative or quantitative defects of alphaB-cristallin	biolink:Disease	mondo	Orphanet:209044	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016188		ORPHA:209044
MONDO:0016189	qualitative or quantitative defects of filamin C	biolink:Disease	mondo	Orphanet:209047	ordo_group_of_disorders	qualitative or quantitative defects of filamin type C	http://purl.obolibrary.org/obo/MONDO_0016189		ORPHA:209047
MONDO:0016184	qualitative or quantitative defects of protein O-mannosyltransferase 1	biolink:Disease	mondo	Orphanet:209030	ordo_group_of_disorders	qualitative or quantitative defects of protein O-mannosyltransferase type 1	http://purl.obolibrary.org/obo/MONDO_0016184		ORPHA:209030
MONDO:0016185	qualitative or quantitative defects of protein O-mannosyltransferase 2	biolink:Disease	mondo	Orphanet:209033	ordo_group_of_disorders	qualitative or quantitative defects of protein O-mannosyltransferase type 2	http://purl.obolibrary.org/obo/MONDO_0016185		ORPHA:209033
MONDO:0016186	qualitative or quantitative defects of myofibrillar proteins	biolink:Disease	mondo	Orphanet:209038	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016186		ORPHA:209038
MONDO:0016187	qualitative or quantitative defects of desmin	biolink:Disease	mondo	Orphanet:209041	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016187		ORPHA:209041
ECTO:0001566	cadmium molecular entity exposure	biolink:OntologyClass	mondo			exposure to cadmium molecular entity	http://purl.obolibrary.org/obo/ECTO_0001566	An exposure to cadmium molecular entity.	
MONDO:0016170	chronic polyradiculoneuropathy	biolink:Disease	mondo	Orphanet:208978|ICD10:G61.8	ordo_group_of_disorders	polyradiculoneuropathy, chronic	http://purl.obolibrary.org/obo/MONDO_0016170	Chronic form of polyradiculoneuropathy.	ORPHA:208978
MONDO:0016171	polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies	biolink:Disease	mondo	ICD10:G61.8|Orphanet:208981	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016171		ORPHA:208981
MONDO:0016172	acquired sensory ganglionopathy	biolink:Disease	mondo	Orphanet:208984	ordo_group_of_disorders	acquired sensory ganglionopathy|acquired sensory neuronopathy	http://purl.obolibrary.org/obo/MONDO_0016172	An instance of sensory ganglionopathy that is acquired during the lifetime of the individual.	ORPHA:208984
MONDO:0041154	disease of neck of urinary bladder	biolink:Disease	mondo	SCTID:236644005		functional disorder of bladder neck and sphincter mechanism	http://purl.obolibrary.org/obo/MONDO_0041154		SNOMEDCT:236644005
ECTO:9001942	food additive exposure	biolink:OntologyClass	mondo			exposure to food additive	http://purl.obolibrary.org/obo/ECTO_9001942	An exposure to food additive.	
ECTO:9001943	food acidity regulator exposure	biolink:OntologyClass	mondo			exposure to food acidity regulator	http://purl.obolibrary.org/obo/ECTO_9001943	An exposure to food acidity regulator.	
MONDO:0016177	systemic inflammatory disease associated with an acquired peripheral neuropathy	biolink:Disease	mondo	UMLS:CN200929|Orphanet:209007	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016177		ORPHA:209007|UMLS:CN200929
ECTO:0001571	mercury molecular entity exposure	biolink:OntologyClass	mondo			exposure to mercury molecular entity	http://purl.obolibrary.org/obo/ECTO_0001571	An exposure to mercury molecular entity.	
MONDO:0016178	peripheral neuropathy associated with monoclonal gammopathy	biolink:Disease	mondo	Orphanet:209010	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016178		ORPHA:209010
MONDO:0016179	acquired amyloid peripheral neuropathy	biolink:Disease	mondo	Orphanet:209013	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016179		ORPHA:209013
MONDO:0016173	non-paraneoplastic sensory ganglionopathy	biolink:Disease	mondo	Orphanet:208989	ordo_group_of_disorders	non-paraneoplastic sensory neuronopathy	http://purl.obolibrary.org/obo/MONDO_0016173		ORPHA:208989
MONDO:0016174	paraneoplastic sensory ganglionopathy	biolink:Disease	mondo	Orphanet:208999	ordo_group_of_disorders	paraneoplastic sensory neuronopathy	http://purl.obolibrary.org/obo/MONDO_0016174		ORPHA:208999
MONDO:0016175	cutis laxa	biolink:Disease	mondo	COHD:4242416|Orphanet:209|MedDRA:10011692|MESH:D003483|ICD10:Q82.8|GARD:0006227|SCTID:58588007|DOID:3144|NCIT:C84663|UMLS:C0010495|OMIMPS:123700	gard_rare|ordo_group_of_disorders	loose skin|cutis laxa|elastolysis|generalized elastolysis	http://purl.obolibrary.org/obo/MONDO_0016175	Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.	MESH:D003483|MEDDRA:10011692|ORPHA:209|DOID:3144|UMLS:C0010495|SNOMEDCT:58588007|NCIT:C84663
MONDO:0016176	axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy	biolink:Disease	mondo	Orphanet:209004|ICD10:G61.8	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016176		ORPHA:209004
MONDO:0016160	X-linked intellectual disability-epilepsy syndrome	biolink:Disease	mondo	UMLS:CN226857|Orphanet:2076	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016160		ORPHA:2076|UMLS:CN226857
MONDO:0016161	cerebral gigantism-jaw cysts syndrome	biolink:Disease	mondo	SCTID:725418006|GARD:0001206|UMLS:CN200907|Orphanet:2081|ICD10:Q04.8	ordo_malformation_syndrome|gard_rare	Cramer Niederdellmann syndrome|cerebral gigantism jaw cysts|Cramer-Niederdellmann syndrome	http://purl.obolibrary.org/obo/MONDO_0016161	Cerebral gigantism-jaw cysts syndrome is characterised by cerebral gigantism associated with a jaw cyst basal cell naevoid syndrome.	ORPHA:2081|UMLS:CN200907|SNOMEDCT:725418006
MONDO:0041161	endometrial hyperplasia	biolink:Disease	mondo	SCTID:237072009|NCIT:C3013|DOID:0080365|HP:0040298|UMLS:C0014173		hyperplasia of the endometrium|hyperplasia of endometrium|endometrial hyperplasia	http://purl.obolibrary.org/obo/MONDO_0041161	A proliferation of the endometrial cells resulting in glandular enlargement and budding. The proliferation may or may not be associated with atypia of the endometrial cells. When the hyperplastic changes are excessive, there is formation of complex epithelial structures (complex endometrial hyperplasia).	NCIT:C3013|UMLS:C0014173|DOID:0080365|SNOMEDCT:237072009
MONDO:0004177	benign urethral neoplasm	biolink:Disease	mondo	COHD:196377|SCTID:92466006|NCIT:C3619|ICD9:223.81|DOID:730		benign urethral tumor|benign urethral neoplasm|benign urethra neoplasm|urethra benign neoplasm|urethral benign neoplasm|benign neoplasm of the urethra|benign neoplasm of urethra|benign urethra tumor|neoplasm. urethra|benign tumor of the urethra|benign tumor of urethra|benign urethral neoplasm NOS|neoplasm of urethra	http://purl.obolibrary.org/obo/MONDO_0004177	Abnormal growth of the cells of the urethra (lower urinary tract) without malignant characteristics.	NCIT:C3619|DOID:730|SNOMEDCT:92466006
MONDO:0004176	childhood extraosseous osteosarcoma	biolink:Disease	mondo	DOID:7297|UMLS:C1332968|NCIT:C27376		childhood extraosseous osteosarcoma|pediatric extraosseous osteosarcoma|childhood extraskeletal osteosarcoma|pediatric extraskeletal osteosarcoma|pediatric extraosseous osteosarcoma|extraosseous osteosarcoma of childhood	http://purl.obolibrary.org/obo/MONDO_0004176	An osteosarcoma arising from the soft tissue, and occurring during childhood.	DOID:7297|UMLS:C1332968|NCIT:C27376
MONDO:0041167	carcinoid crisis	biolink:Disease	mondo	UMLS:C0342569|SCTID:237833006		carcinoid crisis	http://purl.obolibrary.org/obo/MONDO_0041167	A life-threatening complication of carcinoid syndrome, and is generally found in people who already have carcinoid syndrome. The crisis may occur suddenly, or it can be associated with stress, chemotherapy, or anesthesia.	UMLS:C0342569|SNOMEDCT:237833006
MONDO:0004179	obsolete astroblastoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004179		
MONDO:0004178	testicular yolk sac tumor, endodermal sinus pattern	biolink:Disease	mondo	UMLS:C1515303|NCIT:C39927|DOID:7302		endodermal sinus pattern testicular yolk sac tumor|testicular yolk sac tumor, endodermal sinus pattern	http://purl.obolibrary.org/obo/MONDO_0004178	A yolk sac tumor that arises from the testis and is characterized by the presence of connective tissue stalks that contain a blood vessel and are lined by cells with clear cytoplasm and prominent nucleoli.	NCIT:C39927|DOID:7302|UMLS:C1515303
MONDO:0004173	adenocarcinoma of skene gland origin	biolink:Disease	mondo	UMLS:C1527427|DOID:7284|NCIT:C39863		Skene gland carcinoma|carcinoma of paraurethral gland|carcinoma of Skene's gland|carcinoma of the paraurethral gland|adenocarcinoma of Skene gland origin|adenocarcinoma of Skene gland|paraurethral gland adenocarcinoma|paraurethral gland carcinoma|carcinoma of Skene gland	http://purl.obolibrary.org/obo/MONDO_0004173	A rare adenocarcinoma arising from Skene gland. It presents as a periurethral or anterior vaginal submucosal mass. It is characterized by morphological features similar to prostate adenocarcinoma.	DOID:7284|UMLS:C1527427|NCIT:C39863
MONDO:0004172	uterine corpus adenocarcinofibroma	biolink:Disease	mondo	DOID:7281		adenocarcinofibroma of body of uterus|body of uterus adenocarcinofibroma	http://purl.obolibrary.org/obo/MONDO_0004172	A adenocarcinofibroma that involves the body of uterus.	DOID:7281
MONDO:0004175	mucin-rich endometrial endometrioid adenocarcinoma	biolink:Disease	mondo	DOID:7293|UMLS:C1513711|NCIT:C8717			http://purl.obolibrary.org/obo/MONDO_0004175		DOID:7293|UMLS:C1513711|NCIT:C8717
MONDO:0004174	secretory uterine corpus endometrioid adenocarcinoma	biolink:Disease	mondo	ICDO:8382/3|UMLS:C1336907|NCIT:C27839|DOID:7289		secretory uterine corpus endometrioid adenocarcinoma|endometrial endometrioid adenocarcinoma, secretory variant	http://purl.obolibrary.org/obo/MONDO_0004174	An endometrioid adenocarcinoma arising from the endometrium. Morphologically it is characterized by the presence of malignant glandular cells containing glycogen vacuoles which are usually subnuclear and reminiscent of early secretory endometrium.	UMLS:C1336907|DOID:7289|NCIT:C27839
MONDO:0004171	obsolete congenital epulis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004171		
MONDO:0004170	nodular episcleritis	biolink:Disease	mondo	DOID:728|ICD9:379.02|COHD:433207|SCTID:70558001|ICD10:H15.12|UMLS:C0155352			http://purl.obolibrary.org/obo/MONDO_0004170		DOID:728|UMLS:C0155352|SNOMEDCT:70558001
MONDO:0016166	genetic hyperparathyroidism	biolink:Disease	mondo	Orphanet:208596	ordo_group_of_disorders	genetic hyperparathyroidism	http://purl.obolibrary.org/obo/MONDO_0016166	Genetic hyperparathyroidism.	ORPHA:208596
MONDO:0016167	optic pathway glioma	biolink:Disease	mondo	Orphanet:2086|UMLS:C0796418|NCIT:C8567|GARD:0004107|ICD10:D33.3	gard_rare|ordo_disease	glioma of the optic tract|glioma of optic tract|optic pathway glioma|visual pathway glioma|optic tract glioma|glioma of visual pathway|glioma of the visual pathway	http://purl.obolibrary.org/obo/MONDO_0016167	Optic pathway glioma (OPG) is a benign tumor that develop along the optic nerve (chiasm, tracts, and radiations) characterized by impairment or loss of vision and may be accompanied by diencephalic symptoms such as reduced growth and alteration in sleeping patterns. OPG are often linked to neurofibromatosis type 1 (NF1).	ORPHA:2086|UMLS:C0796418|NCIT:C8567
MONDO:0016168	cryopyrin-associated periodic syndrome	biolink:Disease	mondo	ICD9:759.89|MESH:D056587|Orphanet:208650|MedDRA:10068850|ICD10:E85.0|SCTID:430079001|UMLS:C2316212|NCIT:C84657|GARD:0010927	ordo_group_of_disorders	Cryopyrinopathy|caps	http://purl.obolibrary.org/obo/MONDO_0016168	Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS).	NCIT:C84657|MEDDRA:10068850|SNOMEDCT:430079001|UMLS:C2316212|MESH:D056587|ORPHA:208650
MONDO:0016169	chronic acquired demyelinating polyneuropathy	biolink:Disease	mondo	Orphanet:208974	ordo_group_of_disorders	acquired peripheral neuropathy, chronic|chronic acquired peripheral neuropathy|CADP	http://purl.obolibrary.org/obo/MONDO_0016169	Chronic form of acquired peripheral neuropathy.	ORPHA:208974
MONDO:0016162	bilateral frontal polymicrogyria	biolink:Disease	mondo	Orphanet:208444|ICD10:Q04.3|GARD:0010783	gard_rare|ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0016162	Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify the condition into two different forms: bilateral frontal polymicrogyriaand the bilateral frontoparietal. Signs and symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. Seizures mayalsobe present. The frontoparietal form is caused by changes (mutations) in the GPR56 gene but the cause for the frontal form of polymicrogyira is still not known. Treatment is based on the signs and symptoms present in each person.	ORPHA:208444
MONDO:0016163	autosomal dominant cerebellar ataxia type II	biolink:Disease	mondo	UMLS:CN229031|Orphanet:208508	ordo_group_of_disorders	ADCA2|ADCAII|autosomal dominant cerebellar ataxia type II|autosomal dominant cerebellar ataxia type 2	http://purl.obolibrary.org/obo/MONDO_0016163		ORPHA:208508|UMLS:CN229031
MONDO:0016164	herpetiform pemphigus	biolink:Disease	mondo	UMLS:CN226858|ICD10:L10.2|Orphanet:208524	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016164	Herpetiform pemphigus is a rare superficial pemphigus disease characterized by severe intractable pruritus with erythematous or urticarial plaques and vesicles organized in a herpetiform pattern. Mucosae are generally spared. Eosinophilia in peripheral blood and low titers of circulating autoantibodies are observed in many cases. Histologically, minimal or no apparent acantholysis is associated.	UMLS:CN226858|ORPHA:208524
MONDO:0016165	genetic hypoparathyroidism	biolink:Disease	mondo	Orphanet:208593	ordo_group_of_disorders	genetic hypoparathyroidism	http://purl.obolibrary.org/obo/MONDO_0016165	Genetic hypoparathyroidism.	ORPHA:208593
MONDO:0016150	qualitative or quantitative defects of integrin alpha-7	biolink:Disease	mondo	Orphanet:207098	ordo_group_of_disorders	Integrinopathy	http://purl.obolibrary.org/obo/MONDO_0016150		ORPHA:207098
MONDO:0004188	iris spindle cell melanoma	biolink:Disease	mondo	NCIT:C6098|DOID:7328|UMLS:C1334287		spindle cell melanoma of iris|spindle cell melanoma of the iris|iris spindle cell melanoma	http://purl.obolibrary.org/obo/MONDO_0004188	A spindle cell melanoma that involves the iris.	UMLS:C1334287|DOID:7328|NCIT:C6098
MONDO:0004187	nodular fasciitis	biolink:Disease	mondo	UMLS:C0410005|SCTID:400138001|NCIT:C3827|DOID:7327|Orphanet:477742|ICD10:M72.4|ICD9:728.79	ordo_disease	pseudosarcomatous fasciitis|pseudosarcomatous fibromatosis|nodular fasciitis|fasciitis - nodular	http://purl.obolibrary.org/obo/MONDO_0004187	A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity.	DOID:7327|UMLS:C0410005|NCIT:C3827|ORPHA:477742|SNOMEDCT:400138001
MONDO:0004189	esophageal tuberculosis	biolink:Disease	mondo	ICD9:017.83|ICD9:017.8|ICD9:017.81|SCTID:15284007|UMLS:C0152902|ICD9:017.80|DOID:7332		esophagus tuberculosis|tuberculosis of esophagus	http://purl.obolibrary.org/obo/MONDO_0004189	A tuberculosis that involves the esophagus.	DOID:7332|UMLS:C0152902|SNOMEDCT:15284007
CHEBI:83403	monochlorobenzenes	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_83403	Any member of the class of chlorobenzenes containing a mono- or poly-substituted benzene ring in which only one substituent is chlorine.	
MONDO:0004184	urethral disease	biolink:Disease	mondo	UMLS:C0041969|MESH:D014522|DOID:732|NCIT:C26903|ICD10:N36.9|SCTID:4985009		disease of urethra|urethra disease or disorder|disorder of urethra|urethra disease|disorder of urethra|disease or disorder of urethra|urethra disorder	http://purl.obolibrary.org/obo/MONDO_0004184	A disease involving the urethra.	SNOMEDCT:4985009|MESH:D014522|DOID:732|UMLS:C0041969|NCIT:C26903
MONDO:0004183	axonal neuropathy	biolink:Disease	mondo	DOID:7319|SCTID:60703000|NCIT:C27301|UMLS:C0270921		axonal neuropathy|peripheral neuropathy of axon|axon peripheral neuropathy	http://purl.obolibrary.org/obo/MONDO_0004183	Any nerve disorder affecting the axon of a nerve.	DOID:7319|SNOMEDCT:60703000|UMLS:C0270921|NCIT:C27301
MONDO:0004186	cranial nodular fasciitis	biolink:Disease	mondo	UMLS:C1333162|NCIT:C27248|DOID:7326		cranial pseudosarcomatous fasciitis|cranial nodular fasciitis	http://purl.obolibrary.org/obo/MONDO_0004186	A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the cranium. This is an osteolytic lesion. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity.	DOID:7326|UMLS:C1333162|NCIT:C27248
MONDO:0004185	ovarian serous cystadenofibroma	biolink:Disease	mondo	NCIT:C40032|UMLS:C0877572|DOID:7320		ovarian serous cystadenofibroma|ovary serous cystadenofibroma	http://purl.obolibrary.org/obo/MONDO_0004185	A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma.	DOID:7320|NCIT:C40032|UMLS:C0877572
MONDO:0004180	benign urinary system neoplasm	biolink:Disease	mondo	COHD:78706|ICD9:223.9|ICD9:223.89|NCIT:C4893|SCTID:92468007|MESH:D014571|DOID:731		benign urinary tract neoplasm|renal system benign neoplasm|neoplasm of urinary system|benign urinary system neoplasm|benign neoplasm of the urinary tract|benign neoplasm of urinary tract|benign urinary tract tumor|tumor of the urinary system|benign tumor of the urinary tract|urinary tract neoplasm|tumor of urinary tract|benign tumor of urinary tract|urinary system benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0004180	A non-metastasizing neoplasm that arises from the organs that comprise the urinary system. Representative examples include renal oncocytoma, bladder inverted papilloma, and urothelial papilloma.	MESH:D014571|SNOMEDCT:92468007|DOID:731|NCIT:C4893
MONDO:0004182	stage IVb bladder cancer	biolink:Disease	mondo	DOID:7315|UMLS:C1336362|NCIT:C9368		Jewett-Marshall stage D2 urinary bladder cancer|Jewett-Marshall stage D2 urinary bladder carcinoma|Jewett-Marshall bladder cancer|stage IVB urinary bladder cancer|Jewett-Marshall stage D1 bladder cancer|Jewett-Marshall stage D2 bladder cancer|stage IVB urinary bladder carcinoma|stage IVB bladder cancer	http://purl.obolibrary.org/obo/MONDO_0004182	Stage IV includes T4b, NO,MO/any T NI, MO/ any T N2 MO,/ any T N3 MO/ any T any N M1 : T4b: Tumor invades the pelvic wall, abdominal wall. N1: Metastasis in a single lymph node, 2 cm or less in greatest dimension. N2: Metastasis in a single lymph node, more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, none more than 5 cm in greatest dimension. N3: Metastasis in a lymph node more than 5 cm in greatest dimension. M1: Distant metastasis.	NCIT:C9368|UMLS:C1336362|DOID:7315
MONDO:0004181	breast adenomyoepithelial adenosis	biolink:Disease	mondo	NCIT:C40391|DOID:7312|UMLS:C1511283			http://purl.obolibrary.org/obo/MONDO_0004181	An uncommon variant of breast adenosis characterized by the presence of irregularly shaped glands, epithelial cells with eosinophilic cytoplasm, and prominent myopepithelial cells. Mild atypia may be present.	NCIT:C40391|UMLS:C1511283|DOID:7312
MONDO:0016159	Gemignani syndrome	biolink:Disease	mondo	GARD:0002451|Orphanet:2074|UMLS:C2931587|MESH:C537678	gard_rare|ordo_malformation_syndrome	spinocerebellar ataxia associated amyotrophy of the hands and sensorineural deafness|spinocerebellar ataxia-amyotrophy-deafness syndrome	http://purl.obolibrary.org/obo/MONDO_0016159		UMLS:C2931587|ORPHA:2074|MESH:C537678
HP:0005599	Hypopigmentation of hair	biolink:PhenotypicFeature	mondo	UMLS:C3278401	hposlim_core	Loss of hair color|Hair hypopigmentation	http://purl.obolibrary.org/obo/HP_0005599		
MONDO:0016155	qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan	biolink:Disease	mondo	Orphanet:207113	ordo_group_of_disorders	secondary dystroglycanopathy|secondary alpha-dystroglycanopathy	http://purl.obolibrary.org/obo/MONDO_0016155		ORPHA:207113
MONDO:0016156	qualitative or quantitative defects of FKRP	biolink:Disease	mondo	Orphanet:207119	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016156		ORPHA:207119
MONDO:0016157	qualitative or quantitative defects of fukutin	biolink:Disease	mondo	Orphanet:207122	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016157		ORPHA:207122
MONDO:0016158	narcolepsy-cataplexy syndrome	biolink:Disease	mondo	EFO:0000614|MedDRA:10028713|ICD9:347.0|GARD:0007162|Orphanet:2073|ICD10:G47.41|ICD10:G47.419|ICD10:G47.4	gard_rare|ordo_disease	Gélineau disease|narcolepsy with cataplexy|narcolepsy-cataplexy syndrome|GC)lineau disease|Gelineau's syndrome|narcoleptic syndrome|paroxysmal sleep|Gelineau syndrome	http://purl.obolibrary.org/obo/MONDO_0016158	Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions).	MEDDRA:10028713|ORPHA:2073|UMLS:C0751362
MONDO:0016151	qualitative or quantitative defects of perlecan	biolink:Disease	mondo	Orphanet:207101	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016151		ORPHA:207101
MONDO:0016152	qualitative or quantitative defects of calpain	biolink:Disease	mondo	Orphanet:207104	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016152		ORPHA:207104
MONDO:0016153	qualitative or quantitative defects of TRIM32	biolink:Disease	mondo	Orphanet:207107	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016153		ORPHA:207107
MONDO:0016154	qualitative or quantitative defects of myotubularin	biolink:Disease	mondo	Orphanet:207110	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016154		ORPHA:207110
MONDO:0100000	MED12-related intellectual disability syndrome	biolink:Disease	mondo			X-linked syndromic intellectual disability caused by mutation in MED12|MED12 X-linked syndromic intellectual disability	http://purl.obolibrary.org/obo/MONDO_0100000	An X-linked syndromic intellectual disability that that includes subtypes of the heterogeneous, eponymously named Lujan-Fryns syndrome, X-linked Ohdo syndrome, and Optiz-Kaveggia/ FG syndrome, which is caused by mutations in the gene MED12. The common and most penetrant phenotype shared amongst these disease entities is intellectual disability, with dysgenesis or agenesis of the corpus callosum, blepharophimosis, and marfanoid habitus having variable phenotypic expressivity.	
MONDO:0100001	alpha-gal syndrome	biolink:Disease	mondo			allergic galactose-alpha-1,3-galactose disease	http://purl.obolibrary.org/obo/MONDO_0100001	An IgE antibody response to a mammalian oligosaccharide epitope, galactose-alpha-1,3-galactose (alpha-gal).	
MONDO:0043762	tubal pregnancy	biolink:Disease	mondo	SCTID:79586000|NCIT:C92946|MESH:D011274		Pregnancies, tubal|fallopian pregnancy|fallopian tube pregnancy|tubal pregnancy|ectopic pregnancy of fallopian tube|tubal Pregnancies|fallopian tube ectopic pregnancy	http://purl.obolibrary.org/obo/MONDO_0043762	An abnormal pregnancy in which the conception is implanted in the fallopian tube.	MESH:D011274|NCIT:C92946|SNOMEDCT:79586000
MONDO:0100002	food protein-induced allergic proctocolitis	biolink:Disease	mondo			FPIPC|allergic proctocolitis|milk protein proctocololitis	http://purl.obolibrary.org/obo/MONDO_0100002	A benign inflammatory colitis caused by a non-IgE-mediated immune reaction to ingested food proteins.	
MONDO:0043765	presbycusis	biolink:Disease	mondo	NCIT:C116367|SCTID:49526009|MESH:D011304		senile deafness|presbycusis|age-related hearing loss|presbyacusia|Presbycuses	http://purl.obolibrary.org/obo/MONDO_0043765	Bilateral hearing loss caused by progressive degeneration of cochlear structures and central auditory pathways, typically associated with the aging process.	NCIT:C116367|MESH:D011304|SNOMEDCT:49526009
HGNC:26054	SLC25A38	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26054		
MONDO:0100004	mast cell activation syndrome	biolink:Disease	mondo	GARD:0012981		disorder of mast cell activation|disorder of mast cell activation|MACS|mast cell activation disease	http://purl.obolibrary.org/obo/MONDO_0100004	A clinically defined disease states with a largely unknown morphological background. Acute mast cell activation (MCA) is commonly seen in allergic reactions and often leads to the clinical signs and symptoms of anaphylaxis. Severe or even life‐threatening MCA may occur when the burden of mast cells is high and/or these cells are in an hyperactivated state. Mastocytosis may be associated with mast cell activation syndrome (MCAS).	
MONDO:0100005	primary mast cell activation syndrome	biolink:Disease	mondo			primary MACS	http://purl.obolibrary.org/obo/MONDO_0100005	Mast cell activation syndrome where KIT-mutated and clonal mast cells are detected.	
MONDO:0100006	secondary mast cell activation syndrome	biolink:Disease	mondo			secondary MACS	http://purl.obolibrary.org/obo/MONDO_0100006	Mast cell activation syndrome where an underlying inflammatory disease is present, often in the form of an IgE-dependent allergy, but there are no KIT-mutated mast cells.	
GO:0008484	sulfuric ester hydrolase activity	biolink:OntologyClass	mondo			sulphuric ester hydrolase activity|sulfatase activity	http://purl.obolibrary.org/obo/GO_0008484	Catalysis of the reaction: RSO-R' + H2O = RSOOH + R'H. This reaction is the hydrolysis of any sulfuric ester bond, any ester formed from sulfuric acid, O=SO(OH)2.	
MONDO:0100008	food protein-induced enterocolitis syndrome	biolink:Disease	mondo			FPIES|delayed food allergy	http://purl.obolibrary.org/obo/MONDO_0100008	An eosinophilic gastrointestinal disorder triggered by food that is non-IgE-mediated.	
GO:0008483	transaminase activity	biolink:OntologyClass	mondo			aminotransferase activity	http://purl.obolibrary.org/obo/GO_0008483	Catalysis of the transfer of an amino group to an acceptor, usually a 2-oxo acid.	
MONDO:0043759	abdominal ectopic pregnancy	biolink:Disease	mondo	MESH:D011269|SCTID:82661006|NCIT:C92921		abdomen ectopic pregnancy|Pregnancies, abdominal|ectopic pregnancy of abdomen|abdominal pregnancy|abdominal Pregnancies|intra-abdominal pregnancy	http://purl.obolibrary.org/obo/MONDO_0043759	Ectopic pregnancy characterized by the implantation of the embryo in the peritoneal cavity or abdominal organs.	MESH:D011269|NCIT:C92921|SNOMEDCT:82661006
HGNC:26050	TMEM70	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26050		
HGNC:14074	FMN2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14074		
HGNC:14082	ANLN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14082		
MONDO:0100010	tendinopathy	biolink:Disease	mondo	EFO:1001434|SCTID:68172002		disorder of tendon|disease or disorder of tendon|disorder of tendon|disease of tendon|tendon disease|tendon disease or disorder	http://purl.obolibrary.org/obo/MONDO_0100010	Disorders that are causes by overuse of tendons.	SNOMEDCT:68172002
MONDO:0100011	tendinosis	biolink:Disease	mondo	SCTID:724152009			http://purl.obolibrary.org/obo/MONDO_0100011	The chronic degeneration of a tendon without inflammation.	SNOMEDCT:724152009
MONDO:0100012	paratenonitis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100012	Inflammation of the outer layer of the tendon (paratenon) alone, whether or not the paratenon is lined by synovium.	
MONDO:0100013	paratenonitis with tendinosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100013	Paratenonitis associated with intratendinous degeneration.	
MONDO:0100014	autoimmune retinopathy	biolink:Disease	mondo	UMLS:C3203657|SCTID:724809006|GARD:0012034		AIR|autoimmune disease of retina|retina autoimmune disease	http://purl.obolibrary.org/obo/MONDO_0100014	An autoimmune disease characterized by sudden onset of photopsias and scotomata in patients with no family history of retinitis pigmentosa, followed by visual field and central vision loss.	SNOMEDCT:724809006|UMLS:C3203657
MONDO:0041114	peripheral ischemia	biolink:Disease	mondo	SCTID:233958001		peripheral ischemic vascular disease|peripheral ischemia	http://purl.obolibrary.org/obo/MONDO_0041114	Deficient blood distribution to the limbs caused by narrowing or obstruction of the lumen of the peripheral arteries.	SNOMEDCT:233958001
MONDO:0100015	adult-onset segmental dystonia	biolink:Disease	mondo			an adult-onset, focal or segmental, isolated dystonia that is characterized by cervical or cranial dystonia that often begins in the fourth decade (range 7-54 years).|DYT-GNAL	http://purl.obolibrary.org/obo/MONDO_0100015		
MONDO:0043775	respiratory paralysis	biolink:Disease	mondo	MESH:D012133|SCTID:64228003		paralysis, respiratory muscle|paralysis of diaphragm|respiratory muscle paralysis|diaphragmatic paralysis|paralysis, respiratory|muscle paralysis, respiratory|paralysis, diaphragmatic|muscle paralyses, respiratory	http://purl.obolibrary.org/obo/MONDO_0043775	Complete or severe weakness of the muscles of respiration. This condition may be associated with motor neuron diseases; peripheral nerve diseases; neuromuscular junction diseases; spinal cord diseases; injury to the phrenic nerve; and other disorders.	MESH:D012133|SNOMEDCT:64228003
MONDO:0100016	early-onset generalized dystonia	biolink:Disease	mondo			early-onset, generalized dystonia with mild syndromic features|A generalized isolated dystonia characterized by early-onset, which may be clinically indistinguishable from DYT-TOR1A and may be the most common cause of early-onset generalized dystonia, at least outside the Askenazi Jewish population.|early-onset generalized isolated dystonia|DYT-KMT2B	http://purl.obolibrary.org/obo/MONDO_0100016		
MONDO:0043771	radiodermatitis	biolink:Disease	mondo	EFO:1001840|SCTID:49084001|MESH:D011855|NCIT:C3349		radiation recall dermatitis|radiation-induced Dermatitides|radiation recall Dermatitides|recall reactions, radiation|Radiodermatitides|reactions, radiation recall|reaction, radiation recall|dermatitis radiation|radiation recall reactions|radiation-induced dermatitis|radiation recall reaction|Dermatitides, radiation-induced|radiation dermatitis|dermatitis, radiation recall|dermatitis, radiation-induced|radiation induced dermatitis|Dermatitides, radiation recall|radiodermatitis|dermatitis, radiation induced|recall reaction, radiation	http://purl.obolibrary.org/obo/MONDO_0043771	A cutaneous inflammatory reaction occurring as a result of exposure to biologically effective levels of ionizing radiation.	MESH:D011855|NCIT:C3349|SNOMEDCT:49084001
MONDO:0100019	ECHS1-related paroxysmal dyskinesia	biolink:Disease	mondo			ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesia	http://purl.obolibrary.org/obo/MONDO_0100019	A paroxysmal dyskinesia which manifest as dystonic movements brought on by sustained exercise, that is correlated with a deficiency in the gene ECHS1 (caused by a missence mutation). Onset is typically between age two and four years.	
MONDO:0043768	thrombocytopenic purpura	biolink:Disease	mondo	MESH:D011696|NCIT:C26870|UMLS:C0857305|SCTID:302873008		Purpuras, Thrombopenic|Purpuras, thrombocytopenic|purpura, Thrombopenic|Thrombopenic purpura|thrombocytopenic Purpuras|thrombocytopenic purpura|Thrombopenic Purpuras	http://purl.obolibrary.org/obo/MONDO_0043768	Purpura associated with a reduction in circulating blood platelets which can result from a variety of factors.	NCIT:C26870|UMLS:C0857305|MESH:D011696|SNOMEDCT:302873008
MONDO:0100020	atypical childhood epilepsy with centrotemporal spikes	biolink:Disease	mondo			pseudo-Lennox syndrome|atonic-benign childhood epilepsy with centrotemporal spikes|atypical benign partial epilepsy of childhood	http://purl.obolibrary.org/obo/MONDO_0100020	A childhood-onset epilepsy that is characterized by frequent seizures of multiple types, including nocturnal focal motor and fronto-parietal opercular seizures, and daytime focal motor seizures with negative myoclonus and atypical absence seizures. Centrotemporal sharp waves are seen on EEG. During the phase of the epilepsy when seizures are frequent, neuropsychological deficits and motor impairment may be present. These deficits improve when seizures remit.	
MONDO:0100021	photosensitive occipital lobe epilepsy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100021	A childhood-onset epilepsy that is characterized by the presence of visually-induced focal occipital lobe seizures. A proportion of patients with this syndrome have developmental delays and learning difficulty.	
MONDO:0100022	neonatal/infantile epilepsy syndrome	biolink:Disease	mondo	http://orcid.org/0000-0001-8486-0558	obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0100022	An epilepsy sydrome that has an onset during the neonatal or infantile stage of life.	
MONDO:0100023	self-limited familial and non-familial neonatal seizures	biolink:Disease	mondo			self-limited familial neonatal-infantile epilepsy	http://purl.obolibrary.org/obo/MONDO_0100023	A neonatal/infantile epilepsy sndrome that is characterized by the onset of seizures that start in the in the neonate between day 4 and 7 of life and are often unilateral clonic events that recur and may alternate sides from seizure to seizure. Seizures can be repetitive over hours to days. Seizures remit by 4-6 months of age. A proportion of those affected may have seizures in later life. The child is expected to have normal developmental progress.	
HGNC:26034	SDHAF2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26034		
MONDO:0100024	self-limited familial and non-familial infantile seizures	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100024	This syndrome is characterized by the onset of seizures between 3 and 20 months of age (peak 6 months). Seizures may be frequent at onset but usually remit within 1 year from the onset. In untreated cases there can be isolated or brief clusters of seizures within the period from onset to remission. A minority of individuals may have epilepsy in later life. Some patients (with PRRT2 mutations) may develop paroxysmal kinesiogenic dyskinesia in later life.	
MONDO:0100025	epilepsy of infancy with migrating focal seizures	biolink:Disease	mondo	UMLS:C4518639|SCTID:733195008			http://purl.obolibrary.org/obo/MONDO_0100025	This syndrome is characterized by onset of refractory focal seizures in the first year of life, with associated severe encephalopathy. Focal seizures arise independently in both hemispheres and can migrate from one cortical region to another randomly but consecutively in the same seizure. Seizures are often prolonged with episodes of status epilepticus. Prognosis is poor with severe neurological disability and reduced life expectancy, although a milder evolution has been reported in a few children.	UMLS:C4518639|SNOMEDCT:733195008
MONDO:0043786	serositis	biolink:Disease	mondo	NCIT:C70428|MESH:D012700|SCTID:370469003		serositis|inflammation of serous membrane|Serositides|serous membrane inflammation	http://purl.obolibrary.org/obo/MONDO_0043786	Inflammation of a serous membrane.	MESH:D012700|SNOMEDCT:370469003|NCIT:C70428
HGNC:26031	PIGV	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26031		
MONDO:0100026	myoclonic encephalopathy in non-progressive disorder	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100026	This group of epilepsies are typically is characterized by onset of seizures from day 1 of life to 5 years (peak 12 months). Both sexes are affected, however the male to female ratio is 1:2. Antecedent (including birth) history, head size, neurological and developmental findings reflect the underlying cause (if known). Myoclonic status epilepticus is often the initial presenting seizure type, however other initial seizure types may also occur. Prognosis is unfavorable with severe neurological and developmental impairments typically seen.	
MONDO:0100027	febrile seizures plus, genetic epilepsy with febrile seizures plus	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100027	These epilepsy syndromes are characterized by the presence of febrile seizures in an individual that may continue past the usual age where these are expected to resolve and/or be accompanied by afebrile seizures that may be generalized seizures (tonic-clonic, atonic, myoclonic, myoclonic-atonic or absence) or focal seizures. Febrile seizures plus and genetic epilepsy with febrile seizures plus are distinguished on the basis of family history. A number of dominantly inherited genes have been linked to these syndromes, with implications for specific genetic counseling, due to the variable severity of the resulting epilepsy in different family members.	
HGNC:26038	TMEM127	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26038		
MONDO:0100028	immune epilepsy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100028	Epilepsies that have a distinct immune-mediated etiology with evidence of central nervous system inflammation, that has been demonstrated to be associated with a substantially increased risk of developing epilepsy.	
MONDO:0043783	sclerema neonatorum	biolink:Disease	mondo	MESH:D012593|NCIT:C35009|SCTID:206539008		sclerema adiposum|underwood's disease|sclerema neonatorum	http://purl.obolibrary.org/obo/MONDO_0043783	A diffuse hardening of skin and subcutaneous adipose tissue, associated with minimal inflammation without fat necrosis, that typically affects critically ill preterm neonates during the first week of life.	SNOMEDCT:206539008|MESH:D012593|NCIT:C35009
MONDO:0100029	antibody mediated epilepsy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100029	An immune epilepsy where the underlying cause is antibody mediated.	
MONDO:0043777	rhinophyma	biolink:Disease	mondo	UMLS:C0035466|MESH:D012224|NCIT:C34989|SCTID:19877001		Rhinophymas|rhinophyma|hypertrophic rosacea	http://purl.obolibrary.org/obo/MONDO_0043777	Progressive enlargement of the nose due to hypertrophy of the sebaceous glands of the tip of the nose and fibrosis. It usually affects older men and is associated with long-standing acne rosacea. It presents as a pink lobulated mass with dilated vessels in the nose.	MESH:D012224|NCIT:C34989|UMLS:C0035466|SNOMEDCT:19877001
NCBITaxon:104454	Heterophyes	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_104454		
MONDO:0016191	qualitative or quantitative defects of titin	biolink:Disease	mondo	Orphanet:209053	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016191		ORPHA:209053
MONDO:0016192	qualitative or quantitative defects of telethonin	biolink:Disease	mondo	Orphanet:209056	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016192		ORPHA:209056
MONDO:0016193	qualitative or quantitative defects of alpha-actin	biolink:Disease	mondo	Orphanet:209059	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016193		ORPHA:209059
MONDO:0016194	qualitative or quantitative defects of nebulin	biolink:Disease	mondo	Orphanet:209182	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016194		ORPHA:209182
MONDO:0100030	adolescent/adult-onset epilepsy syndrome	biolink:Disease	mondo	http://orcid.org/0000-0001-8486-0558	obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0100030	An epilepsy syndrome that has an onset during the adolescent or adult stage of life.	
MONDO:0100031	adolescent/adult onset autosomal dominant epilepsy with auditory features	biolink:Disease	mondo			autosomal dominant partial/lateral temporal epilepsy with auditory features	http://purl.obolibrary.org/obo/MONDO_0100031	A genetic focal epilepsy, with focal sensory auditory seizures seen in family members. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled.	
MONDO:0100032	familial temporal lobe epilepsy syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100032	This syndrome is identified in an individual who has seizures with temporal lobe features with a family history of similar seizures. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled.	
MONDO:0100033	metabolic epilepsy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100033	Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy.	
MONDO:0016190	qualitative or quantitative defects of protein ZASP	biolink:Disease	mondo	Orphanet:209050	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016190		ORPHA:209050
MONDO:0100034	cerebral folate deficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100034	Cerebral folate deficiency is defined as a neurological syndrome associated with low CSF 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in the presence of normal folate metabolism outside the nervous system. Cerebral folate deficiency can result from either disturbed folate transport or from increased folate turnover within the central nervous system.	
MONDO:0100035	structural epilepsy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100035	Structural epilepsies are conceptualized as having a distinct structural brain abnormality that has been demonstrated to be associated with a substantially increased risk of epilepsy in appropriately designed studies. The structural brain abnormality can be acquired (such as due to stroke, trauma or infection) or may be of genetic origin; however, as we currently understand it, the structural brain abnormality is a separate disorder interposed between the acquired or genetic defect and the epilepsy.	
MONDO:0100036	variable age onset epilepsy	biolink:Disease	mondo	http://orcid.org/0000-0001-8486-0558|DOID:0050706		variable age at onset electroclinical syndrome	http://purl.obolibrary.org/obo/MONDO_0100036	An epilepsy syndrome that has an onset during variable ages and stages of life.	DOID:0050706
MONDO:0043797	spinal cord injury	biolink:Disease	mondo	SCTID:90584004|EFO:1001919|MESH:D013119|Orphanet:90058		injury of spinal cord|Contusions, spinal cord|spinal cord injury|traumatic myelopathy|post traumatic myelopathy|Traumas, spinal cord|Myelopathies, traumatic|cord Contusions, spinal|traumatic Myelopathies|spinal cord Traumas|post-traumatic myelopathy|cord laceration, spinal|myelopathy, traumatic|cord Transections, spinal|cord Traumas, spinal|spinal cord transection|post-traumatic Myelopathies|spinal cord Lacerations|spinal cord Contusions|cord injury, spinal|spinal cord laceration|cord trauma, spinal|spinal cord contusion|cord transection, spinal|cord Lacerations, spinal|cord Injuries, spinal|Injuries, spinal cord|spinal cord Transections|cord contusion, spinal|myelopathy, post-traumatic|trauma, spinal cord|injury, spinal cord|Myelopathies, post-traumatic|contusion, spinal cord|spinal cord trauma|Transections, spinal cord|Lacerations, spinal cord|laceration, spinal cord|transection, spinal cord	http://purl.obolibrary.org/obo/MONDO_0043797	Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces (e.g., WOUNDS, GUNSHOT; WHIPLASH INJURIES; etc.).	SNOMEDCT:90584004|ORPHA:90058|MESH:D013119
MONDO:0100038	complex neurodevelopmental disorder	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0100038	A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy).	
MONDO:0100039	CDKL5 disorder	biolink:Disease	mondo	GARD:0012173		CDKL5|CDKL5-related disorder|CDKL5 inherited genetic disease|inherited genetic disease caused by mutation in CDKL5	http://purl.obolibrary.org/obo/MONDO_0100039	A monogenic disease that has material basis in mutation in the CDKL5 gene.	
GO:0008482	sulfite oxidase activity	biolink:OntologyClass	mondo			sulphite oxidase activity|sulfite:oxygen oxidoreductase activity	http://purl.obolibrary.org/obo/GO_0008482	Catalysis of the reaction: H(2)O + O(2) + sulfite = H(2)O(2) + H(+) + sulfate.	
GO:0008480	sarcosine dehydrogenase activity	biolink:OntologyClass	mondo			monomethylglycine dehydrogenase activity|sarcosine N-demethylase activity|sarcosine:acceptor oxidoreductase (demethylating)|sarcosine:(acceptor) oxidoreductase (demethylating)	http://purl.obolibrary.org/obo/GO_0008480	Catalysis of the reaction: sarcosine + H2O + electron-transfer flavoprotein = glycine + formaldehyde + reduced electron-transfer flavoprotein.	
MONDO:0043789	serum sickness	biolink:Disease	mondo	SCTID:72284000|UMLS:C0036830|NCIT:C79718|MESH:D012713|EFO:1001845		transfusion reaction due to serum protein reaction|Sicknesses, serum|sickness, serum|protein sickness|serum reaction|serum sickness|serum Sicknesses|intoxication by serum	http://purl.obolibrary.org/obo/MONDO_0043789	Delayed-type hypersensitivity reaction to foreign proteins derived from an animal serum. It occurs approximately six to twenty one days following the administration of the foreign antigen. Symptoms include fever, arthralgias, myalgias, skin eruptions, lymphadenopathy, chest pain, and dyspnea. Certain drugs (e.g., antibiotics, anticancer agents, and anti-inflammatory medications) and infectious disorders (e.g., hepatitis B) may also cause serum sickness-like reaction.	SNOMEDCT:72284000|MESH:D012713|UMLS:C0036830|NCIT:C79718
MONDO:0016199	qualitative or quantitative defects of protein SERCA1	biolink:Disease	mondo	Orphanet:209199	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016199		ORPHA:209199
MONDO:0016195	qualitative or quantitative defects of beta-myosin heavy chain (MYH7)	biolink:Disease	mondo	Orphanet:209185	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016195		ORPHA:209185
HGNC:14064	HDAC6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14064		
MONDO:0016196	qualitative or quantitative defects of emerin	biolink:Disease	mondo	Orphanet:209188	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016196		ORPHA:209188
MONDO:0016197	qualitative or quantitative defects of selenoprotein N1	biolink:Disease	mondo	Orphanet:209193	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016197		ORPHA:209193
MONDO:0016198	qualitative or quantitative defects of plectin	biolink:Disease	mondo	Orphanet:209196	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016198		ORPHA:209196
MONDO:0004239	cervical keratinizing squamous cell carcinoma	biolink:Disease	mondo	DOID:7483|NCIT:C40187|UMLS:C1517658		cervical keratinizing squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004239	A variant of cervical squamous cell carcinoma characterized by the presence of keratin pearls. Intercellular bridges and cytoplasmic keratinization are usually present.	NCIT:C40187|DOID:7483|UMLS:C1517658
MONDO:0004236	duodenal somatostatinoma	biolink:Disease	mondo	DOID:7479|NCIT:C27407|UMLS:C1333320		duodenal delta cell somatostatin producing tumor|duodenal somatostatinoma|duodenal somatostatin-producing NET|duodenal somatostatin-producing neuroendocrine tumor|duodenal somatostatin producing tumor	http://purl.obolibrary.org/obo/MONDO_0004236	A somatostatin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of tubulo-glandular structures.	DOID:7479|UMLS:C1333320|NCIT:C27407
MONDO:0006899	pericoronitis	biolink:Disease	mondo	UMLS:C0031055|SCTID:22240003|DOID:3671|MESH:D010497|EFO:1001098|MedDRA:10034504			http://purl.obolibrary.org/obo/MONDO_0006899	Inflammation of the gingiva surrounding the crown of a tooth.	DOID:3671|MESH:D010497|UMLS:C0031055|SNOMEDCT:22240003
MONDO:0004235	diverticulitis	biolink:Disease	mondo	MESH:D004238|NCIT:C26752|SCTID:307496006|EFO:1001460|UMLS:C0012813|DOID:7475		inflammation of digestive tract diverticulum|digestive tract diverticulum inflammation	http://purl.obolibrary.org/obo/MONDO_0004235	An infection that develops in the diverticula of the intestinal tract. Signs and symptoms include abdominal pain, fever, and leukocytosis.	DOID:7475|UMLS:C0012813|SNOMEDCT:307496006|MESH:D004238|NCIT:C26752
MONDO:0006897	periapical granuloma	biolink:Disease	mondo	SCTID:81407003|MedDRA:10060985|MESH:D010484|EFO:1001096|DOID:4617|UMLS:C0031029		apical granuloma|periapical granuloma	http://purl.obolibrary.org/obo/MONDO_0006897	Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment.	SNOMEDCT:81407003|DOID:4617|MESH:D010484|UMLS:C0031029
MONDO:0004238	petrous apex meningioma	biolink:Disease	mondo	DOID:7482|NCIT:C5271|UMLS:C1335396		petrous ridge meningioma|meningioma of the petrous ridge|meningioma of petrous apex|meningioma of petrous ridge|meningioma of the petrous apex	http://purl.obolibrary.org/obo/MONDO_0004238	A meningioma that affects the petrous apex.	DOID:7482|NCIT:C5271|UMLS:C1335396
MONDO:0006898	periarthritis	biolink:Disease	mondo	DOID:2964|MedDRA:10034464|UMLS:C0031037|ICD10:M77.9|SCTID:50921008|EFO:1001097|MESH:D010489			http://purl.obolibrary.org/obo/MONDO_0006898	Inflammation of the tissues around a joint. (Dorland, 27th ed)	MESH:D010489|SNOMEDCT:50921008|DOID:2964|UMLS:C0031037
MONDO:0004237	large cell carcinoma with rhabdoid phenotype	biolink:Disease	mondo	DOID:7480|UMLS:C1265997|NCIT:C6876|ICDO:8014/3|ONCOTREE:RLCLC		RLCLC|large cell lung carcinoma with rhabdoid phenotype|large cell carcinoma with rhabdoid phenotype (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0004237	A rare poorly differentiated morphologic variant of large cell lung carcinoma characterized by the presence of rhabdoid cells.	DOID:7480|UMLS:C1265997|NCIT:C6876
MONDO:0006895	penile neoplasm	biolink:Disease	mondo	ICD9:239.5|DOID:11624|ONCOTREE:PENIS|NCIT:C3317|EFO:1001094|MESH:D010412|SCTID:126896003|MedDRA:10061913|UMLS:C0030849		penile neoplasm|tumor of the penis|neoplasm of penis|penis neoplasm (disease)|penile tumor|penile neoplasms|neoplasm of the penis|tumor of penis|penis tumor|penis neoplasm	http://purl.obolibrary.org/obo/MONDO_0006895	A benign, borderline, or malignant neoplasm that affects the penis. Representative examples include penile hemangioma, penile intraepithelial neoplasia, and penile carcinoma.	UMLS:C0030849|MESH:D010412|SNOMEDCT:126896003|DOID:11624|NCIT:C3317
MONDO:0004232	large cell keratinizing variant squamous cell breast carcinoma	biolink:Disease	mondo	UMLS:C1519486|DOID:7461|NCIT:C40357		squamous cell breast carcinoma, large cell keratinizing variant	http://purl.obolibrary.org/obo/MONDO_0004232	A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of large malignant cells that exhibit keratinization.	UMLS:C1519486|DOID:7461|NCIT:C40357
MONDO:0004231	spindle cell variant squamous cell breast carcinoma	biolink:Disease	mondo	UMLS:C1519487|NCIT:C40358|ONCOTREE:MASCC|DOID:7460		metaplastic adenocarcinoma with spindle cell differentiation|squamous cell breast carcinoma, spindle cell variant	http://purl.obolibrary.org/obo/MONDO_0004231	A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of spindle-shaped malignant cells.	UMLS:C1519487|DOID:7460|NCIT:C40358
MONDO:0006896	peptic esophagitis	biolink:Disease	mondo	DOID:13976|UMLS:C0014869|EFO:1001095|MESH:D004942|SCTID:57643001|ICD9:530.11		reflux esophagitis|reflux oesophagitis|peptic esophagitis|peptic reflux disease	http://purl.obolibrary.org/obo/MONDO_0006896	Inflammation of the esophagus that is caused by the reflux of gastric juice with contents of the stomach and duodenum.	UMLS:C0014869|SNOMEDCT:57643001|DOID:13976|MESH:D004942
MONDO:0004234	chronic lymphoproliferative disorder of NK-cells	biolink:Disease	mondo	SCTID:722955006|Orphanet:512017|ICDO:9831/3|DOID:7465|NCIT:C39591|UMLS:C1512709	ordo_disease	chronic NK-LGL lymphoproliferative disorder|CLPD-NK|NK-type lymphoproliferative disorder of granular lymphocytes|NK-LGL leukemia|NK-LGLL|indolent NK-cell lymphoproliferative disorder|NK-cell large granular lymphocyte lymphocytosis|natural killer-cell large granular lymphocyte leukemia|chronic NK-cell lymphocytosis|chronic NK-large granular lymphocyte lymphoproliferative disorder|chronic NK lymphocytosis|chronic lymphoproliferative disorder of natural killer cells|NK-cell lineage granular lymphocyte proliferative disorder|CNKL|indolent large granular NK-cell lymphoproliferative disorder|chronic lymphoproliferative disorder of NK-cells	http://purl.obolibrary.org/obo/MONDO_0004234	An Epstein-Barr virus negative disorder with a chronic clinical course affecting predominantly adults and characterized by the proliferation of large granular lymphocytes with natural killer cell immunophenotype. The T-cell receptor genes are not rearranged.	SNOMEDCT:722955006|ORPHA:512017|UMLS:C1512709|NCIT:C39591|DOID:7465
MONDO:0006893	Pasteurella hemorrhagic septicemia	biolink:Disease	mondo	SCTID:198462004|EFO:1001091|MESH:D006483		septicemia, hemorrhagic|hemorrhagic bacteremia|Septicaemia, hemorrhagic|haemorrhagic bacteremia|Septicaemia, haemorrhagic|septicemia, haemorrhagic|haemorrhagic Septicaemia|bacteremia, haemorrhagic|hemorrhagic Septicaemia|bacteremia, hemorrhagic|haemorrhagic septicemia	http://purl.obolibrary.org/obo/MONDO_0006893	Any of several bacterial diseases, usually caused by pasteurella multocida, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans.	MESH:D006483|SNOMEDCT:198462004
MONDO:0004233	childhood pleomorphic rhabdomyosarcoma	biolink:Disease	mondo	UMLS:C0279614|DOID:7463|NCIT:C7959		pediatric pleomorphic rhabdomyosarcoma|pleomorphic childhood rhabdomyosarcoma|Pleomorphic rhabdomyosarcoma|childhood anaplastic rhabdomyosarcoma|pleomorphic rhabdomyosarcoma of childhood|pediatric pleomorphic rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0004233	A rare aggressive rhabdomyosarcoma occurring in children. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells.	UMLS:C0279614|NCIT:C7959|DOID:7463
MONDO:0006894	patellofemoral pain syndrome	biolink:Disease	mondo	MedDRA:10049143|MESH:D046788|DOID:14284|EFO:1001092|UMLS:C0877149|SCTID:430725003			http://purl.obolibrary.org/obo/MONDO_0006894	A syndrome characterized by retropatellar or peripatellar pain resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) chondromalacia patellae, the latter describing a pathological condition of the cartilage and not a syndrome.	DOID:14284|UMLS:C0877149|SNOMEDCT:430725003|MESH:D046788
MONDO:0006891	partial motor epilepsy	biolink:Disease	mondo	SCTID:128612007|EFO:1001089|ICD9:780.39|DOID:3327|MESH:D020938		epilepsy, focal motor|epilepsy, focal motor NOS|focal motor seizure|focal motor seizure, NOS	http://purl.obolibrary.org/obo/MONDO_0006891	A simple partial seizure consisting of clonus or spasm of a muscle or muscle group; it may be single or in a continuous and repetitive series or may spread to adjacent muscles.	DOID:3327|NCIT:C50847|SNOMEDCT:128612007|MESH:D020938
MONDO:0006892	partial sensory epilepsy	biolink:Disease	mondo	MESH:D020937|DOID:3330|EFO:1001090			http://purl.obolibrary.org/obo/MONDO_0006892	A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (epilepsy, complex partial).	DOID:3330|MESH:D020937
MONDO:0004230	adenomatoid tumor	biolink:Disease	mondo	ICD10:D19.9|ICDO:9052/0|ICDO:9050/0|MESH:D018254|DOID:746|NCIT:C3762|UMLS:C0206675|ICDO:9054/0		benign mesothelial neoplasm|adenomatoid tumor NOS (morphologic abnormality)|adenomatoid tumor, benign|adenomatoid tumor (morphologic abnormality)|benign mesothelial tumor|benign neoplasm of the mesothelium|benign neoplasm of mesothelium|benign tumor of the mesothelium|benign tumor of mesothelium|benign mesothelioma|benign localized epithelial mesothelioma|mesothelioma, benign|adenomatoid tumor	http://purl.obolibrary.org/obo/MONDO_0004230	A benign neoplasm arising from mesothelial cells. It is characterized by the formation of glandular and tubular patterns. It can occur in several anatomic sites including the pleura, peritoneum, and epididymis.	DOID:746|UMLS:C0206675|MESH:D018254|NCIT:C3762
MONDO:0006890	parathyroid gland adenoma	biolink:Disease	mondo	UMLS:C0262587|EFO:1001087|HP:0002897|SCTID:128474007|NCIT:C3916|DOID:7608|MedDRA:10033940		adenoma of parathyroid|adenoma of parathyroid gland|adenoma of the parathyroid|parathyroid gland adenoma|parathyroid adenoma|adenoma of the parathyroid gland	http://purl.obolibrary.org/obo/MONDO_0006890	A benign tumor arising from the parenchymal cells of the parathyroid glands. In the vast majority of cases, the tumor involves a single parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. It is usually surrounded by a well-defined capsule. Capsular invasion, vascular invasion, and perineural invasion are absent.	UMLS:C0262587|SNOMEDCT:128474007|DOID:7608|NCIT:C3916
MONDO:0016229	genetic vascular anomaly	biolink:Disease	mondo	Orphanet:211240	ordo_group_of_disorders	genetic vascular anomaly	http://purl.obolibrary.org/obo/MONDO_0016229	An instance of vascular anomaly that is caused by a modification of the individual's genome.	ORPHA:211240
MONDO:0043836	tuberculosis, spinal	biolink:Disease	mondo	MESH:D014399|NCIT:C35087|SCTID:35984006		tuberculosis of spine (pott's)|disease, pott's|pott's paraplegia|tuberculosis of vertebral column - pott's|tuberculous spondylitis|tuberculosis of vertebral column|pott disease|spinal Tuberculoses|Potts disease|Tuberculoses, spinal|pott's disease|disease, pott|spinal tuberculosis	http://purl.obolibrary.org/obo/MONDO_0043836	Tuberculosis of the vertebrae.	SNOMEDCT:35984006|NCIT:C35087|MESH:D014399
MONDO:0043839	ulcer disease	biolink:Disease	mondo	NCIT:C3426|UMLS:C0041582|SCTID:429040005|MESH:D014456		ulcer|ulceration|ulcerative|ulcerated|ulcers	http://purl.obolibrary.org/obo/MONDO_0043839	A lesion on the surface of the skin or a mucous surface, produced by the sloughing of inflammatory necrotic tissue.	UMLS:C0041582|SNOMEDCT:429040005|NCIT:C3426|MESH:D014456
MONDO:0018888	congenital cornea plana	biolink:Disease	mondo	ICD10:Q13.4|Orphanet:53691	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0018888		ORPHA:53691
MONDO:0016225	specific learning disability	biolink:Disease	mondo	UMLS:CN226885|Orphanet:211047|MESH:D000067559	ordo_group_of_disorders	specific learning disorder|specific learning difficulty	http://purl.obolibrary.org/obo/MONDO_0016225	Diagnosed when there are specific deficits in an individualbs ability to perceive or process information efficiently and accurately. This disorder first manifests during the years of formal schooling and is characterized by persistent and impairing difficulties with learning foundational academic skills in reading, writing, and/or math. The individualbs performance of the affected academic skills is well below average for age, or acceptable performance levels are achieved only with extraordinary effort. Specific learning disorder may occur in individuals identified as intellectually gifted and manifest only when the learning demands or assessment procedures (e.g., timed tests) pose barriers that cannot be overcome by their innate intelligence and compensatory strategies. For all individuals, specific learning disorder can produce lifelong impairments in activities dependent on the skills, including occupational performance. (from dsm-V)	UMLS:CN226885|ORPHA:211047|MESH:D000067559
MONDO:0018887	obsolete rare cutaneous lupus erythematosus	biolink:Disease	mondo	Orphanet:535	ordo_group_of_disorders|obsoletion_candidate	rare cutaneous lupus erythematosus	http://purl.obolibrary.org/obo/MONDO_0018887	Cutaneous lupus erythematosus (CLE) is an autoimmune disease that denotes a heterogeneous spectrum of clinical manifestations affecting the skin and can be divided into 4 categories: acute CLE (ACLE); subacute CLE (SCLE); chronic CLE (CCLE; the most diverse form); and intermittent CLE (ICLE). CLE can either occur alone or associated with systemic lupus erythematosus (SLE).	ORPHA:535
MONDO:0016226	specific language disorder	biolink:Disease	mondo	UMLS:CN200992|Orphanet:211053	ordo_group_of_disorders	dysphasia	http://purl.obolibrary.org/obo/MONDO_0016226		ORPHA:211053|UMLS:CN200992
MONDO:0016227	hereditary episodic ataxia	biolink:Disease	mondo	GARD:0009851|OMIMPS:160120|Orphanet:211062|UMLS:C1720189|ICD10:G11.8|DOID:963|EFO:1000638|SCTID:421455009	ordo_group_of_disorders	ea syndrome|episodic ataxia syndrome|Isaacs syndrome|episodic ataxia	http://purl.obolibrary.org/obo/MONDO_0016227	Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7), but most of the reported cases belong to EA1 and EA2.	SNOMEDCT:421455009|ORPHA:211062|DOID:963|UMLS:C1720189
HP:0005523	Lymphoproliferative disorder	biolink:PhenotypicFeature	mondo	UMLS:C0024314|SNOMEDCT_US:414629003|MSH:D008232|SNOMEDCT_US:84631004|SNOMEDCT_US:277466009|SNOMEDCT_US:77121009		Lymphoproliferative disorders	http://purl.obolibrary.org/obo/HP_0005523		
UBERON:3000961	external integument structure	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_3000961	Structures of the dermis, epidermis, glands and pigment cells recognizable on the external surfaces of the integument.	
MONDO:0016228	obsolete rare vascular tumor	biolink:Disease	mondo	Orphanet:211237	obsoletion_candidate|ordo_group_of_disorders	rare vascular neoplasm	http://purl.obolibrary.org/obo/MONDO_0016228	Any of the forms of vascular neoplasm that have a rare incidence.	ORPHA:211237
MONDO:0018889	hyaline body myopathy	biolink:Disease	mondo	GARD:0007148|Orphanet:53698|DOID:0111267|ICD10:G71.2	ordo_disease	myosin storage myopathy	http://purl.obolibrary.org/obo/MONDO_0018889		DOID:0111267|ORPHA:53698
MONDO:0018884	Roch-Leri mesosomatous lipomatosis	biolink:Disease	mondo	SCTID:716772007|GARD:0004733|ICD10:E88.2|UMLS:C4274284|Orphanet:529	gard_rare|ordo_disease	Roch-Leri syndrome	http://purl.obolibrary.org/obo/MONDO_0018884	Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984.	SNOMEDCT:716772007|ORPHA:529|UMLS:C4274284
MONDO:0016221	temporomandibular joint anomaly	biolink:Disease	mondo	Orphanet:210581	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016221		ORPHA:210581
MONDO:0018883	Berardinelli-Seip congenital lipodystrophy	biolink:Disease	mondo	Orphanet:528|ICD9:250.80|SCTID:127012008|ICD10:E88.1|MedDRA:10024603|NCIT:C84594	ordo_disease	GCL|Beradinelli-Seip syndrome|lipoatrophic diabetes|Seip-Bernardinelli syndrome|Lawrence-Seip syndrome|total lipodystrophy|Berardinelli Seip syndrome|BSCL|Berardinelli lipodystrophy syndrome|generalized congenital lipodystrophy|Brunzell syndrome|congenital Generalized lipodystrophy	http://purl.obolibrary.org/obo/MONDO_0018883	Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance.	ORPHA:528|UMLS:C0011859|SNOMEDCT:127012008|NCIT:C84594|MEDDRA:10024603
MONDO:0016222	spindle cell hemangioma	biolink:Disease	mondo	NCIT:C4754|Orphanet:210584|ICDO:9136/1|SCTID:403967000|ICDO:9136/0|UMLS:C1304508|DOID:496|ICD10:D18.0|EFO:0002856	ordo_disease	spindle -cell hemangioma|SCh|spindle cell hemangioendothelioma|spindle cell hemangioma	http://purl.obolibrary.org/obo/MONDO_0016222	Spindle cell hemangioma (SCH), also known as spindle cell hemangioendothelioma, is a rare benign vascular tumor either solitary or multiple, characterized by cavernous blood vessels separated by spindle cells reminiscent of those in KaposiBs sarcoma and located in the dermis and subcutis.	DOID:496|ORPHA:210584|NCIT:C4754|SNOMEDCT:403967000|UMLS:C1304508
MONDO:0018886	obsolete listeriosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018886		
MONDO:0016223	infantile hemangioma of rare localization	biolink:Disease	mondo	Orphanet:210589|SCTID:703270004|UMLS:C3839613|UMLS:CN226884	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016223		SNOMEDCT:703270004|UMLS:CN226884|UMLS:C3839613|ORPHA:210589
MONDO:0018885	orbital leiomyoma	biolink:Disease	mondo	ICD10:D31.6|UMLS:CN205236|Orphanet:52994|UMLS:C4305000|SCTID:719045009	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018885	Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumor cells are oval with blunted ends and there are no mitotic figures. Orbital leiomyoma when excised has excellent prognosis for vision and life. One case of orbital leiomyosarcoma that possibly represents sarcomatous change in an orbital leiomyoma following radiation treatment has been reported.	SNOMEDCT:719045009|UMLS:CN205236|ORPHA:52994|UMLS:C4305000
MONDO:0016224	autosomal dominant proximal spinal muscular atrophy	biolink:Disease	mondo	Orphanet:211037|ICD10:G12.1|UMLS:CN229044	ordo_group_of_disorders	proximal spinal muscular atrophy, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0016224	Autosomal dominant form of proximal spinal muscular atrophy.	ORPHA:211037|UMLS:CN229044
MONDO:0018880	rare teratologic disease	biolink:Disease	mondo	Orphanet:52662|UMLS:CN205231	obsoletion_candidate|ordo_group_of_disorders	acquired embryofetopathy	http://purl.obolibrary.org/obo/MONDO_0018880		UMLS:CN205231|ORPHA:52662
MONDO:0018882	vasculitis	biolink:Disease	mondo	MESH:D014657|MedDRA:10036023|SCTID:31996006|UMLS:C0042384|GARD:0009565|DOID:865|NCIT:C26912|Orphanet:52759|MedDRA:10047115|Wikipedia:Vasculitis|EFO:0006803	ordo_group_of_disorders	angiitis|systemic vasculitis	http://purl.obolibrary.org/obo/MONDO_0018882	Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. BehC'et disease) to relatively minor skin disease.	UMLS:C0042384|MEDDRA:10047115|DOID:865|UMLS:C0264939|SNOMEDCT:31996006|NCIT:C26912|ORPHA:52759|MEDDRA:10036023|MESH:D056647|MESH:D014657
HGNC:14153	CCDC78	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14153		
MONDO:0018881	myelodysplastic syndrome	biolink:Disease	mondo	ICDO:9989/3|ICD9:238.75|DOID:0050908|UMLS:C3463824|MedDRA:10028532|EFO:0000198|SCTID:109995007|Orphanet:52688|OMIM:614286|COHD:138994|NCIT:C3247|UMLS:C0033027|ONCOTREE:MDS|GARD:0007132|ICD9:238.7	ordo_group_of_disorders	MDS|myelodysplastic syndrome, NOS|myelodysplastic neoplasm|myelodysplasia|myelodysplastic syndrome|smoldering leukemia|MDS|myelodysplastic syndrome/neoplasm|preleukemia|oligoblastic leukemia|myelodysplastic syndrome, susceptibility to|myelodysplastic syndromes|hematopoeitic - myelodysplastic syndrome (MDS)|dysmyelopoietic syndrome|myelodysplastic syndrome; MDS	http://purl.obolibrary.org/obo/MONDO_0018881	A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001)	UMLS:C0026985|DOID:0050908|MEDDRA:10028532|UMLS:C3463824|UMLS:C0033027|SNOMEDCT:109995007|ORPHA:52688|NCIT:C3247|http://identifiers.org/omim/614286|MESH:D009190
MONDO:0016220	congenital temporomandibular joint ankylosis	biolink:Disease	mondo	Orphanet:210576|ICD10:K07.6|SCTID:763215008	ordo_disease	congenital trismus	http://purl.obolibrary.org/obo/MONDO_0016220	Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported.	SNOMEDCT:763215008|ORPHA:210576
HGNC:14154	LMF1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14154		
MONDO:0004247	peptic ulcer disease	biolink:Disease	mondo	UMLS:C0030920|ICD10:K27|ICD9:533|NCIT:C3318|DOID:750|MESH:D010437|SCTID:13200003		acute peptic ulcer without hemorrhage and without perforation|peptic ulcer|acute peptic ulcer with hemorrhage and perforation|acute peptic ulcer with hemorrhage	http://purl.obolibrary.org/obo/MONDO_0004247	A mucosal erosion that occurs in the esophagus, stomach or duodenum. Symptoms can include abdominal pain, nausea and vomiting, and bleeding.	DOID:750|UMLS:C0030920|MESH:D010437|SNOMEDCT:13200003|NCIT:C3318
MONDO:0004246	obsolete lymphatic system disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004246		
MONDO:0004249	pediatric supratentorial ependymoma	biolink:Disease	mondo	UMLS:C0278650|DOID:7502|NCIT:C9043|EFO:0008495		supratentorial ependymoma|pediatric supratentorial ependymoblastoma|childhood supratentorial ependymoma|pediatric cerebral ependymoma	http://purl.obolibrary.org/obo/MONDO_0004249	An ependymoma that arises from the supratentorial region of the brain and occurs during childhood.	DOID:7502|NCIT:C9043|UMLS:C0278650
MONDO:0004248	pediatric infratentorial ependymoma	biolink:Disease	mondo	DOID:7501|UMLS:C0278599|NCIT:C9041		childhood infratentorial ependymoma|infratentorial ependymoma|pediatric infratentorial ependymoma	http://purl.obolibrary.org/obo/MONDO_0004248	An ependymoma that arises from the infratentorial region of the brain and occurs during childhood.	NCIT:C9041|UMLS:C0278599|DOID:7501
MONDO:0004243	vulvar proximal-type epithelioid sarcoma	biolink:Disease	mondo	UMLS:C1520093|NCIT:C40319|DOID:7491			http://purl.obolibrary.org/obo/MONDO_0004243	An epithelioid sarcoma of the proximal type involving the vulva.	UMLS:C1520093|NCIT:C40319|DOID:7491
HGNC:26144	PALB2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26144		
UBERON:3000981	limb external integument structure	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_3000981	Dermal, epidermal, glandular and pigment structures of the limb integument.	
MONDO:0004242	active peptic ulcer disease	biolink:Disease	mondo	DOID:749|ICD9:578.9|SCTID:74474003		GI bleeding	http://purl.obolibrary.org/obo/MONDO_0004242		DOID:749|SNOMEDCT:74474003
MONDO:0004245	ependymal tumor of brain	biolink:Disease	mondo	SCTID:254939008|UMLS:C0238029|NCIT:C3861|DOID:7497		ependymoma of brain|ependymal tumor of brain|brain ependymal tumor|brain ependymoma	http://purl.obolibrary.org/obo/MONDO_0004245	A tumor arising from the ependymal lining of the ventricles.	UMLS:C0238029|DOID:7497|SNOMEDCT:254939008|NCIT:C3861
MONDO:0004244	proximal-type epithelioid sarcoma	biolink:Disease	mondo	ONCOTREE:PTES|UMLS:C1335563|NCIT:C27472|DOID:7492		proximal-type epithelioid sarcoma|PTES|central epithelioid sarcoma	http://purl.obolibrary.org/obo/MONDO_0004244	An epithelioid sarcoma predominantly involving the pelvis, perineum, and genital organs. It tends to have a more aggressive clinical course as compared to the more frequently seen distal-type epithelioid sarcoma.	NCIT:C27472|UMLS:C1335563|DOID:7492
HGNC:26147	AGBL5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26147		
MONDO:0004241	Osgood-Schlatter disease	biolink:Disease	mondo	MedDRA:10031130|Orphanet:97335|DOID:7489|ICD9:736.89|SCTID:430506003|SCTID:72047008|NCIT:C34874|ICD10:M93.2	ordo_disease	osteochondritis of tibial tubercle|osteochondritis of the tibial tubercle|aseptic necrosis of the tibial tubercle|Osteochondrosis of proximal tibia|Osgood-Schlatter disease|Osgood-Schlatter's disease|juvenile osteochondrosis of tibial tubercle|Osteochondrosis of the tibial tubercle	http://purl.obolibrary.org/obo/MONDO_0004241	Osteochondrosis of the growth plate near the tibial tuberosity.	SNOMEDCT:430506003|NCIT:C34874|ORPHA:97335|MEDDRA:10031130|SNOMEDCT:72047008|DOID:7489
MONDO:0004240	posterior urethra cancer	biolink:Disease	mondo	NCIT:C7640|DOID:7488|UMLS:C0279931		malignant tumor of posterior urethra|posterior urethral cancer|posterior urethra malignant neoplasm|malignant neoplasm of the posterior urethra|posterior urethral malignant tumor|malignant neoplasm of posterior urethra|posterior urethra malignant tumor|posterior urethral malignant neoplasm|malignant tumor of the posterior urethra	http://purl.obolibrary.org/obo/MONDO_0004240	A malignant neoplasm that affects the portion of the urethra that is close to the bladder.	UMLS:C0279931|NCIT:C7640|DOID:7488
MONDO:0016218	Guillain-Barre syndrome	biolink:Disease	mondo	SCTID:40956001|UMLS:C0018378|MedDRA:10018767|DOID:12842|EFO:0007292|NCIT:C116345|ICD10:G61.0|MESH:D020275|GARD:0006554|Orphanet:2103	ordo_group_of_disorders	acute autoimmune peripheral neuropathy|Guillain-Barré-Strohl syndrome|Guillain Barré syndrome|GBS|Guillain-BarrC)-Strohl syndrome|acute immune-mediated polyneuropathy|acute inflammatory demyelinating polyneuropathy|Landry's ascending paralysis|acute postinfectious polyneuropathy|Guillain-Barré syndrome|infectious neuronitis|post-infectious polyneuritis|acute infective polyneuritis|Landry-Guillain-Barre-Strohl syndrome|acute inflammatory neuropathy|Postinfectious polyneuritis|post-infective polyneuritis|Guillain Barre syndrome	http://purl.obolibrary.org/obo/MONDO_0016218	Guillain-BarrC) syndrome (GBS) is the term used to describe a spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients. GBS is clinically heterogeneous and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS) and some other regional variants.	MESH:D020275|ORPHA:2103|NCIT:C116345|MEDDRA:10018767|UMLS:C0018378|DOID:12842|SNOMEDCT:40956001
UBERON:3000977	body external integument structure	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_3000977	Dermal, epidermal, glandular and pigment structures of the body integument.	
MONDO:0016219	dysmorphism-pectus carinatum-joint laxity syndrome	biolink:Disease	mondo	Orphanet:2104|GARD:0000352|UMLS:CN237430|ICD10:Q87.8	gard_rare|ordo_malformation_syndrome	Guízar Vázquez-Sánchez-Manzano syndrome|dysmorphism-pectus carinatum-joint laxity syndrome|Guizar Vasquez Sanchez Manzano syndrome	http://purl.obolibrary.org/obo/MONDO_0016219	Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown.	ORPHA:2104|UMLS:CN237430
MONDO:0016214	pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome	biolink:Disease	mondo	UMLS:CN200975|Orphanet:210136	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016214	Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia, also named Btrimorphic syndromeB (i.e. three (inherited) morbidities, pulmonary, hepatic and cytopenia), is a rare disease reported in 4 cases to date, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality.	UMLS:CN200975|ORPHA:210136
MONDO:0018877	retinitis punctata albescens	biolink:Disease	mondo	Orphanet:52427|ICD10:H35.5|UMLS:CN205224|SCTID:715562001	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018877		SNOMEDCT:715562001|UMLS:CN205224|ORPHA:52427
MONDO:0018876	mantle cell lymphoma	biolink:Disease	mondo	EFO:1001469|COHD:40481901|SCTID:443487006|DOID:0050746|Orphanet:52416|MESH:D020522|ICD9:200.40|ONCOTREE:MCL|ICD10:C83.1|NCIT:C4337|ICDO:9673/3|GARD:0006969|MedDRA:10061275	ordo_disease	lymphoma, mantle cell|classical mantle cell lymphoma|mantle cell lymphoma|mantle zone lymphoma|MCL|LCM	http://purl.obolibrary.org/obo/MONDO_0018876	Mantle cell lymphoma is a rare form of malignant non-Hodgkin lymphoma affecting B lymphocytes in the lymph nodes in a region called the ``mantle zone''.	DOID:0050746|MEDDRA:10061275|SNOMEDCT:443487006|ORPHA:52416|NCIT:C4337|MESH:D020522
MONDO:0016215	spastic quadriplegia	biolink:Disease	mondo	ICD10:G11.4|UMLS:C0154697|SCTID:192965001|OMIMPS:603513|ICD9:343.2|NCIT:C116904|DOID:10970|ICD9:344.09|Orphanet:210141	ordo_disease	tetraplegic infantile cerebral palsy|spastic quadriplegic cerebral palsy|quadriplegic infantile cerebral palsy|inherited congenital spastic tetraplegia|inherited congenital spastic quadriplegia	http://purl.obolibrary.org/obo/MONDO_0016215	A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities.	DOID:10970|NCIT:C116904|ORPHA:210141|UMLS:C0154697|SNOMEDCT:192965001
MONDO:0016216	adult hepatocellular carcinoma	biolink:Disease	mondo	DOID:0070328|NCIT:C7956|ICD10:C22.0|Orphanet:210159|UMLS:C0279607|UMLS:CN200978	ordo_clinical_subtype	adult primary hepatoma|adult primary carcinoma of liver cell|adult primary carcinoma of the liver cell|adult primary liver cell carcinoma|hepatocellular cancer|hepatocellular carcinoma of adults|adult hepatocellular carcinoma|adult HCC|adult primary hepatocellular carcinoma|adult hepatoma	http://purl.obolibrary.org/obo/MONDO_0016216	Adult hepatocellular carcinoma is the most common primary liver cancer of adulthood. Derived from well-differentiated hepatocytes, it often develops from chronic liver cirrhosis which is most often due to hepatitis B and C virus or alcohol abuse. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure.	DOID:0070328|UMLS:C0279607|UMLS:CN200978|ORPHA:210159|NCIT:C7956
MONDO:0018879	lichen planopilaris	biolink:Disease	mondo	SCTID:64540004|GARD:0003247|Orphanet:525|MESH:C535892|UMLS:C0023645|ICD10:L66.1|COHD:4276173	ordo_disease	lichen planus follicularis|follicular lichen planus|Kossard disease|lichen planopilaris classic type|frontal fibrosing alopecia (subtype)|Lpp|lichen follicularis	http://purl.obolibrary.org/obo/MONDO_0018879	Lichen planopilaris (LPP) is a rare cutaneous variant of lichen planus which affects hair follicles. It may occur on its own or in association with more common forms of lichen planus, usually classical type and/or oral lichen planus.	ORPHA:525|SNOMEDCT:64540004|MESH:C535892|UMLS:C0023645
UBERON:3000972	head external integument structure	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_3000972	Dermal, epidermal, glandular and pigment structures of the external head integument.	
MONDO:0016217	mal de Debarquement	biolink:Disease	mondo	GARD:0006959|MedDRA:10064924|UMLS:C1608983|ICD10:H81.8|SCTID:446079007|Orphanet:210272	ordo_clinical_syndrome	Mal de débarquement|MDD|Mal de debarquement syndrome|sickness of disembarkment|MdDS|disembarkment syndrome	http://purl.obolibrary.org/obo/MONDO_0016217	Mal de debarquement (MdD) is a rare otorhinolaryngological disease characterized by a persistent sensation of motion such as rocking, swaying, tumbling and/or bobbing following a period of exposure to passive movement, usually an ocean cruise or other types of water, train, automobile or air travel and less commonly other movements (like sleeping on a waterbed). Onset may be spontaneous in some patients. Manifestations begin shortly after the stimulus, persist for 6 months to years and may be associated with anxiety, fatigue and impaired cognition. Symptoms are often accentuated when in an enclosed space or when attempting to be motionless (sitting, lying down or standing in a stationary position) and are relieved when in passive motion such as in a moving car, airplane or train.	UMLS:C1608983|MESH:C537840|MEDDRA:10064924|ORPHA:210272|SNOMEDCT:446079007
MONDO:0018878	branchiootic syndrome	biolink:Disease	mondo	ICD10:Q87.0|UMLS:CN205225|DOID:0060232|SCTID:764810000|Orphanet:52429|GARD:0010148	ordo_malformation_syndrome	bor|bo syndrome|branchiootic dysplasia	http://purl.obolibrary.org/obo/MONDO_0018878	Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).	SNOMEDCT:764810000|DOID:0060232|UMLS:CN205225|ORPHA:52429
MONDO:0018873	anterior cutaneous nerve entrapment syndrome	biolink:Disease	mondo	UMLS:CN776944|Orphanet:51890|ICD10:G58.0	ordo_disease	ACNES|rectus abdominis syndrome|intercostal nerve syndrome	http://purl.obolibrary.org/obo/MONDO_0018873	Anterior cutaneous nerve entrapment syndrome (ACNES) is a chronic neuropathic pain syndrome of the abdominal wall caused by entrapment of anterior cutaneous branches of 7 to 12th intercostal nerves along the lateral border of the anterior rectus abdominis fascia causing severe pain and tenderness of the involved dermatome.	UMLS:CN776944|ORPHA:51890
MONDO:0016210	alternating hemiplegia	biolink:Disease	mondo	Orphanet:209978|SCTID:404689008	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016210		SNOMEDCT:404689008|ORPHA:209978
MONDO:0018872	acute megakaryoblastic leukemia	biolink:Disease	mondo	GARD:0000524|ICD10:C94.20|Orphanet:518|EFO:0003025|MedDRA:C0023462|Wikipedia:Acute_megakaryoblastic_leukemia|ICDO:9910/3|UMLS:C0023462|ICD10:C94.2|SCTID:277602003|ONCOTREE:AMKL|DOID:8761|ICD9:207.2|NCIT:C3170|MESH:D007947	ordo_disease|gard_rare	AML M7|leukemia, megakaryocytic, malignant|acute myeloid leukemia M7|AMKL|acute megakaryocytic leukemia|acute megakaryoblastic leukemia, FAB M7|megakaryocytic myelosis|acute megakaryoblastic leukemia|acute megakaryoblastic leukaemia, FAB M7|acute megakaryocytic leukemias|acute myeloblastic leukemia type 7|acute megakaryoblastic leukaemia|megakaryocytic leukemia|FAB M7|thrombocytic leukaemia|acute megakaryoblastic leukemia (FAB type M7)|acute M7 myeloid leukemia	http://purl.obolibrary.org/obo/MONDO_0018872	Acute megakaryoblastic leukemia (AMKL) is a form of acute myeloid leukemia (AML) that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis.	ORPHA:518|MESH:D007947|UMLS:C0023462|SNOMEDCT:277602003|NCIT:C3170|DOID:8761
MONDO:0016211	non-papillary transitional cell carcinoma of the bladder	biolink:Disease	mondo	ICD10:C67.4|ICD10:C67.3|ICD10:C67.2|ICD10:C67.1|ICD10:C67.0|Orphanet:209989|ICD10:C67.9|UMLS:CN200968|ICD10:C67.8|ICD10:C67.7|ICD10:C67.6|ICD10:C67.5	ordo_disease	non-papillary urothelial carcinoma	http://purl.obolibrary.org/obo/MONDO_0016211		UMLS:CN200968|ORPHA:209989
MONDO:0018875	Li-Fraumeni syndrome	biolink:Disease	mondo	MESH:D016864|MedDRA:10066795|ICD9:V84.01|Orphanet:524|DOID:3012|OMIMPS:151623|UMLS:C0085390|NCIT:C3476|SCTID:428850001|ICD10:D48.9|GARD:0006902	ordo_disease	Li-Fraumeni familial cancer susceptibility syndrome|Li Fraumeni syndrome|SBLA syndrome|sarcoma, breast, leukaemia and adrenal gland syndrome|sarcoma family syndrome of Li and Fraumeni|SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)|Li-Fraumeni familiar cancer susceptibility syndrome|Li-Fraumeni syndrome	http://purl.obolibrary.org/obo/MONDO_0018875	Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC).	MEDDRA:10066795|UMLS:C0085390|ORPHA:524|DOID:3012|MESH:D016864|SNOMEDCT:428850001|NCIT:C3476
MONDO:0016212	cyclosporosis	biolink:Disease	mondo	SCTID:716860005|UMLS:C4274225|ICD10:A07.3|Orphanet:210	ordo_disease	Cyclospora cayetanensis disease or disorder|infection of intestine caused by Cyclospora cayetanensis|cyclosporosis|intestinal infection caused by Cyclospora cayetanensis|Cyclospora cayetanensis infectious disease|Cyclospora cayetanensis caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0016212	Cyclosporosis is a parasitic disease caused by Cyclospora cayetanensis, a recently discovered coccidia that was initially described in Peru and then in most intertropical zones. Infection occurs through ingestion of contaminated food or water and leads to abdominal pain, anorexia and diarrhoea, which may resolve spontaneously in immunocompetent individuals but may persist in a chronic form in immunocompromised subjects, leading to a decline in their general state of health.	ORPHA:210|SNOMEDCT:716860005|UMLS:C4274225
MONDO:0018874	acute myeloid leukemia	biolink:Disease	mondo	ICDO:9861/3|Orphanet:519|GARD:0012757|DOID:9119|NCIT:C3171|ICD9:205.00|ICD10:C92.00|MedDRA:10000880|MESH:D015470|EFO:0000222|ICD9:205.0|ICD10:C92.0|OMIM:601626|UMLS:C0023467|KEGG:05221|ONCOTREE:AML|SCTID:91861009|GARD:0000537	ordo_group_of_disorders|gard_rare	leukemia, acute myeloid|acute myelogenous leukemias|acute Nonlymphocytic leukemia|acute nonlymphocytic leukemia|myeloid leukemia, acute|acute myelogenous leukemia|AML|acute granulocytic leukemia|leukemia, acute myelogenous|acute myeloblastic leukemia|hematopoeitic - acute Myleogenous leukemia (AML)|leukemia, myelocytic, acute|acute myelocytic leukemia|ANLL|leukemia, acute myeloid, susceptibility to|acute myeloid leukemia (AML)|acute myeloid leukemia|leukemia, acute myeloid; AML|AML - acute myeloid leukemia|acute non lymphoblastic leukemia	http://purl.obolibrary.org/obo/MONDO_0018874	Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections.	http://identifiers.org/omim/601626|MEDDRA:10000880|ORPHA:519|UMLS:C1879321|UMLS:C0023467|SNOMEDCT:91861009|DOID:9119|NCIT:C3171|MESH:D015470
MONDO:0016213	leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome	biolink:Disease	mondo	Orphanet:210133|UMLS:CN226881|ICD10:Q82.8	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016213	Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy.	UMLS:CN226881|ORPHA:210133
MONDO:0018871	acute myelomonocytic leukemia M4	biolink:Disease	mondo	EFO:0000223|ICD10:C92.5|Orphanet:517|MedDRA:10000890|SCTID:110005000|GARD:0000529|ICDO:9867/3|ONCOTREE:AMML|UMLS:C0023479|NCIT:C7463	ordo_disease|gard_rare	AML-M4|acute myeloblastic leukemia type 4|AMMoL|acute myelomonocytic leukemia|AML M4|AMML|acute myelomonocytic leukemia (FAB type M4)|acute M4 myeloid leukemia	http://purl.obolibrary.org/obo/MONDO_0018871	An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. (WHO, 2001)	ORPHA:517|NCIT:C7463|UMLS:C0023479|MESH:D015479|MEDDRA:10000890|SNOMEDCT:110005000
MONDO:0018870	arterial calcification of infancy	biolink:Disease	mondo	DOID:0050644|ICD10:Q28.8|Orphanet:51608|MESH:C537440|OMIMPS:208000|GARD:0008380	ordo_disease	generalized arterial calcification of infancy|idiopathic obliterative arteriopathy|IIAC|generalized arterial calcification in infancy|infantile arteriosclerosis|occlusive infantile arteriopathy|idiopathic infantile arterial calcification	http://purl.obolibrary.org/obo/MONDO_0018870	Idiopathic arterial calcification of infancy is a rare condition characterized by extensive calcification and stenosis of the large and medium sized arteries.	MESH:C537440|DOID:0050644|UMLS:C0264955|ORPHA:51608|UMLS:C1859727
MONDO:0004218	childhood germ cell brain tumor	biolink:Disease	mondo	DOID:7430|UMLS:C1377598|NCIT:C5795		Brain germ cell tumor|germ cell neoplasm of pediatric brain|germ cell tumor of the childhood brain|germ cell tumor of childhood brain|pediatric brain germ cell tumor|pediatric brain germ cell neoplasm|germ cell neoplasm of the childhood brain|germ cell neoplasm of childhood brain|childhood brain germ cell tumor|germ cell neoplasm of the pediatric brain|germ cell tumor of the pediatric brain|germ cell tumor of pediatric brain|childhood germ cell brain neoplasm|childhood brain germ cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0004218	A germ cell tumor arising from brain during childhood.	NCIT:C5795|UMLS:C1377598|DOID:7430
MONDO:0004217	childhood brain germinoma	biolink:Disease	mondo	DOID:7429|UMLS:C1332948|NCIT:C6207		pediatric brain germinoma|pediatric brain germ cell cancer|pediatric brain germinoma|germinoma of the childhood brain|germinoma of childhood brain|brain germinoma of childhood|germinoma of the pediatric brain|germinoma of pediatric brain	http://purl.obolibrary.org/obo/MONDO_0004217	A germinoma arising from the brain during childhood.	DOID:7429|UMLS:C1332948|NCIT:C6207
MONDO:0006879	optic papillitis	biolink:Disease	mondo	ICD10:H47.10|ICD10:H46.0|DOID:10175|ICD9:362.83|ICD10:H35.81|ICD10:H47.1|ICD9:377.31|MedDRA:10030948|ICD9:377.00|ICD9:377.0|MESH:D010211|SCTID:73221001|ICD9:377.01|COHD:435269|EFO:1001074|ICD10:H47.11		disk, Choked|decreased intraocular pressure associated papilledema|papillitis|optic papilla edema|decreased intraocular pressure-associated papilledema|optic disc inflammation|edema, optic disk|Edemas, optic disk|Choked disk|papilledema associated with increased intracranial pressure|retinal edema|optic disk edema|disks, Choked|edema of the optic disc|papillitis, optic|increased intracranial pressure associated papilledema|inflammation of optic disc|retinal Edemas|optic nerve papillitis|increased intracranial pressure-associated papilledema|Choked disks|edema, optic papilla|papilledema associated with decreased intraocular pressure|optic discitis|papillitis, optic nerve|Edemas, retinal|edema, retinal|optic papillitis	http://purl.obolibrary.org/obo/MONDO_0006879	Swelling of the optic disk, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause optic atrophy and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)	DOID:10175|NCIT:C3307|MESH:D010211|SNOMEDCT:73221001
MONDO:0004219	polyvesicular vitelline pattern testicular yolk sac tumor	biolink:Disease	mondo	UMLS:C1515311|DOID:7435|NCIT:C39930		testicular yolk Sac tumor, polyvesicular vitelline pattern	http://purl.obolibrary.org/obo/MONDO_0004219	A yolk sac tumor that arises from the testis and is characterized by the presence of collections of vesicles that are surrounded by connective tissue.	NCIT:C39930|DOID:7435|UMLS:C1515311
MONDO:0006877	oophoritis	biolink:Disease	mondo	SCTID:76047005|EFO:1001071|MESH:D009869|ICD10:N70.92|MedDRA:10030345|DOID:10974|UMLS:C0029051		ovary inflammation|inflammation of ovary	http://purl.obolibrary.org/obo/MONDO_0006877	Inflammation of the ovary, generally caused by an ascending infection of organisms from the endocervix.	DOID:10974|SNOMEDCT:76047005|MESH:D009869|UMLS:C0029051
MONDO:0004214	ovarian endometrioid cystadenofibroma	biolink:Disease	mondo	NCIT:C27288|UMLS:C1335158|DOID:7411		ovarian endometrioid cystadenofibroma	http://purl.obolibrary.org/obo/MONDO_0004214	A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells in a fibrotic stroma.	DOID:7411|NCIT:C27288|UMLS:C1335158
UBERON:0037089	wall of orbit	biolink:AnatomicalEntity	mondo			orbit wall	http://purl.obolibrary.org/obo/UBERON_0037089		
MONDO:0006878	Moraxellaceae infectious disease	biolink:Disease	mondo	MESH:D045828|EFO:1001072		Psychobacter infections|infections, Moraxella|Moraxella infections|infection, Moraxella|Moraxellaceae infection|Moraxellaceae disease or disorder|infection, Psychobacter|Moraxella infection|infections, Psychobacter|infections, Moraxellaceae|Psychobacter infection|infection, Moraxellaceae|Moraxellaceae caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0006878	Infections with bacteria of the family moraxellaceae.	MESH:D045828
MONDO:0004213	vulvar non-keratinizing squamous cell carcinoma	biolink:Disease	mondo	DOID:7409|NCIT:C40285|UMLS:C1520092			http://purl.obolibrary.org/obo/MONDO_0004213	A squamous cell carcinoma that arises from the vulva and is characterized by the absence of keratin pearls.	UMLS:C1520092|DOID:7409|NCIT:C40285
MONDO:0006875	ocular hypertension	biolink:Disease	mondo	UMLS:C0028840|MESH:D009798|EFO:1001069|MedDRA:10030043|ICD9:365.04|SCTID:4210003|ICD10:H40.05|COHD:381290|DOID:9282			http://purl.obolibrary.org/obo/MONDO_0006875	Abnormally high intraocular pressure.	NCIT:C3285|UMLS:C0028840|MESH:D009798|SNOMEDCT:4210003|DOID:9282
MONDO:0004216	pineal region germinoma	biolink:Disease	mondo	NCIT:C8712|GARD:0002005|MEDGEN:208928|DOID:7428|Orphanet:91352|UMLS:C0854912		pineal germinoma|germinoma	http://purl.obolibrary.org/obo/MONDO_0004216	A germinoma that arises from the pineal gland.	DOID:7428|ORPHA:91352|NCIT:C8712|UMLS:C0854912
MONDO:0006876	ocular tuberculosis	biolink:Disease	mondo	EFO:1001070|MESH:D014392|SCTID:49107007|DOID:0070344|ICD9:017.30|ICD9:017.32|UMLS:C0041322			http://purl.obolibrary.org/obo/MONDO_0006876	Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid.	DOID:0070344|MESH:D014392|UMLS:C0041322|SNOMEDCT:49107007
MONDO:0004215	cutaneous anthrax	biolink:Disease	mondo	ICD9:022.0|GARD:0008158|MESH:C531621|UMLS:C0003177|ICD10:A22.0|DOID:7426|SCTID:84980006	gard_rare	skin anthrax|anthrax, skin type	http://purl.obolibrary.org/obo/MONDO_0004215	An anthrax disease that results in infection located in skin, has material basis in Bacillus anthracis, which is transmitted by contact with infected animals or animal products. The infection has symptom skin lesion that eventually forms an ulcer with a black center.	UMLS:C0003177|DOID:7426|MESH:C531621|SNOMEDCT:84980006
MONDO:0043862	voice disorders	biolink:Disease	mondo	MESH:D014832|SCTID:71941009|NCIT:C3441		voice disorder|neurologic dysphonia|neurologic voice disorder	http://purl.obolibrary.org/obo/MONDO_0043862	A pathologic process in the larynx that affects the production of speech. Causes include vocal cord paresis, vocal cord nodule, vocal cord polyp, and laryngitis.	SNOMEDCT:71941009|NCIT:C3441|MESH:D014832
MONDO:0004210	colonic L-cell glucagon-like peptide producing tumor	biolink:Disease	mondo	NCIT:C27447|DOID:7401|UMLS:C3274139		L-cell glucagon-like peptide-producing neuroendocrine tumor of colon|colonic L-cell glucagon-like peptide-producing neuroendocrine tumor|colon L-cell glucagon-like peptide-producing neuroendocrine tumor|colon L-cell glucagon-like peptide-producing NET	http://purl.obolibrary.org/obo/MONDO_0004210	A neuroendocrine tumor that arises from the colon and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns.	DOID:7401|NCIT:C27447|UMLS:C3274139
MONDO:0006873	nutritional deficiency disease	biolink:Disease	mondo	ICD9:269.9|ICD10:E40.E46|DOID:5113|MedDRA:10046058|ICD9:269.8|EFO:1001067|MESH:D003677|SCTID:363246002|SCTID:70241007|NCIT:C3669		malnutrition|malnourished	http://purl.obolibrary.org/obo/MONDO_0006873	A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed)	MESH:D003677|NCIT:C3669|SNOMEDCT:70241007|DOID:5113|SNOMEDCT:363246002
MONDO:0006874	obstructive jaundice	biolink:Disease	mondo	UMLS:C0022354|DOID:13603|EFO:1001068|MESH:D041781|MedDRA:10029982|SCTID:44018007		obstructive jaundice NOS|obstructive hyperbilirubinemia|cholestatic jaundice syndrome|cholestatic jaundice	http://purl.obolibrary.org/obo/MONDO_0006874	A finding indicating increased bilirubin levels in the blood and urine, due to intrahepatic or extrahepatic obstruction of the biliary system.	SNOMEDCT:44018007|NCIT:C34742|MESH:D041781|DOID:13603|UMLS:C0022354
MONDO:0006871	non-gestational choriocarcinoma	biolink:Disease	mondo	UMLS:C1135873|MESH:D031954|DOID:4320|EFO:1001064			http://purl.obolibrary.org/obo/MONDO_0006871	A highly malignant choriocarcinoma derived from the non-placental origin such as the totipotent cells in the testis, the ovary, and the pineal gland. It produces high levels of chorionic gonadotropin and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis.	UMLS:C1135873|MESH:D031954|DOID:4320
MONDO:0004212	vulvar keratoacanthoma-like carcinoma	biolink:Disease	mondo	DOID:7408|NCIT:C40288|UMLS:C1520086		vulvar squamous cell carcinoma, keratoacanthoma type	http://purl.obolibrary.org/obo/MONDO_0004212	A rapidly growing squamous cell carcinoma that arises from the vulva. It is self-limited and is characterized by the presence of a central crater that contains squamous cells. The proliferating squamous cells infiltrate the dermis below and produce keratin masses that are pushed towards the surface of the tumor.	DOID:7408|NCIT:C40288|UMLS:C1520086
MONDO:0006872	nut allergic reaction	biolink:Disease	mondo	UMLS:C0577620|MESH:D021184|DOID:4379|SCTID:91934008|EFO:1001066		nut allergy|allergy of 022 tree nuts (tn) (ccpr)|nut allergic reaction|022 tree nuts (tn) (ccpr) allergic disease|allergy to nuts	http://purl.obolibrary.org/obo/MONDO_0006872	Allergic reaction to tree nuts that is triggered by the immune system.	DOID:4379|UMLS:C0577620|MESH:D021184|SNOMEDCT:91934008
MONDO:0004211	L-cell glucagon-like peptide-producing neuroendocrine tumor	biolink:Disease	mondo	NCIT:C27448|ICDO:8152/1|DOID:7402|UMLS:C3274140		L-cell glucagon-like peptide producing tumor|L-cell glucagon-like peptide-producing NET|L-cell glucagon-like peptide-producing neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0004211	A neuroendocrine tumor that arises from the gastrointestinal tract and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns.	DOID:7402|NCIT:C27448|UMLS:C3274140
HP:0005508	Monoclonal immunoglobulin M proteinemia	biolink:PhenotypicFeature	mondo	UMLS:C0024419|SNOMEDCT_US:190817009|MSH:D008258|SNOMEDCT_US:35562000|SNOMEDCT_US:190818004		Waldenstrom macroglobulinemia	http://purl.obolibrary.org/obo/HP_0005508	Presence of a monoclonal immunoglobulin M protein in the serum.	
MONDO:0006870	obsolete noma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006870		
HGNC:26114	EDC3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26114		
HGNC:26113	TCTN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26113		
MONDO:0016207	phacoanaphylactic uveitis	biolink:Disease	mondo	SCTID:410494003|UMLS:C1444621|Orphanet:209959|ICD10:H20.2	ordo_disease	Phacoantigenic endophthalmitis|endophthalmitis phacoanaphylactica|lens-induced iridocyclitis|lens-induced uveitis|lens-induced endophthalmitis|Phako-anaphylactic endophthalmitis|Phacoallergic endophthalmitis	http://purl.obolibrary.org/obo/MONDO_0016207	Intraocular inflammation occurring after extracapsular cataract extraction; probably an immune reaction to the patient's liberated lenticular proteins.	UMLS:C1444621|SNOMEDCT:410494003|ORPHA:209959
UBERON:0001095	caudal vertebra	biolink:AnatomicalEntity	mondo			coccygea|caudal vertebrae|fused tail vertebra|caudal vertebral bone|caudal vertebra|coccygeal segment|caudal vertebral bone element|tail vertebra|coccygeal vertebra	http://purl.obolibrary.org/obo/UBERON_0001095	Any vertebral bone that is part of the caudal region of the vertebral column (tail or coccyx).	
MONDO:0016208	solitary rectal ulcer syndrome	biolink:Disease	mondo	Orphanet:209964|UMLS:C4274343|UMLS:CN200964|ICD10:K62.6|SCTID:716685003	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016208	Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease characterized by rectal bleeding, abdominal pain, passage of mucus, sensation of incomplete evacuation, straining at defecation and rectal prolapsed, secondary to ischemic changes in the rectum.	SNOMEDCT:716685003|UMLS:C4274343|UMLS:CN200964|ORPHA:209964
UBERON:0001094	sacral vertebra	biolink:AnatomicalEntity	mondo			segment of sacrum|sacral segment	http://purl.obolibrary.org/obo/UBERON_0001094	A vertebra bone that is part of the sacral region of the vertebral column.	
MONDO:0018869	cobblestone lissencephaly	biolink:Disease	mondo	Orphanet:51577|ICD10:Q04.3|SCTID:253149002	ordo_group_of_disorders	lissencephaly type 2	http://purl.obolibrary.org/obo/MONDO_0018869	Cobblestone lissencephaly is a rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent.	ORPHA:51577|SNOMEDCT:253149002
MONDO:0016209	benign familial nocturnal alternating hemiplegia of childhood	biolink:Disease	mondo	UMLS:CN226880|Orphanet:209973	ordo_disease	benign nocturnal alternating hemiplegia of childhood|benign familial nocturnal alternating hemiplegia in childhood	http://purl.obolibrary.org/obo/MONDO_0016209	Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterized by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioral abnormalities.	UMLS:CN226880|ORPHA:209973
UBERON:0001096	wall of esophagus	biolink:AnatomicalEntity	mondo			esophagus anatomical wall|gullet anatomical wall|wall of oesophagus|wall of gullet|anatomical wall of oesophagus|esophagus wall|gullet wall|anatomical wall of esophagus|anatomical wall of gullet|oesophagus wall|esophageal wall|oesophagus anatomical wall	http://purl.obolibrary.org/obo/UBERON_0001096	An anatomical wall that is part of a esophagus [Automatically generated definition].	
HP:0005506	Chronic myelogenous leukemia	biolink:PhenotypicFeature	mondo	MSH:D015464|SNOMEDCT_US:92818009|DOID:8552|UMLS:C0023473|SNOMEDCT_US:63364005		Chronic myelogenous leukaemia|Chronic myeloid leukemia|Chronic myelocytic leukemia	http://purl.obolibrary.org/obo/HP_0005506	A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate.	
MONDO:0016203	hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	biolink:Disease	mondo	Orphanet:209902|ICD10:E78.0	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016203		ORPHA:209902
MONDO:0018866	Aicardi-Goutieres syndrome	biolink:Disease	mondo	Orphanet:51|ICD9:333.0|ICD10:G31.8|SCTID:230312006|GARD:0000575|OMIMPS:225750|MESH:C535607|DOID:0050629	clingen|gard_rare|ordo_disease	AGS|encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid|Aicardi-Goutières syndrome|Aicardi Goutieres syndrome|encephalopathy with basal ganglia calcification|encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis|Cree encephalitis|pseudotoxoplasmosis syndrome|Cree encephalitis	http://purl.obolibrary.org/obo/MONDO_0018866	Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.	UMLS:C0393591|SNOMEDCT:230312006|DOID:0050629|MESH:C535607|ORPHA:51
UBERON:0001091	calcareous tooth	biolink:AnatomicalEntity	mondo			dental element|dentine containing tooth|tooth|vertebrate tooth	http://purl.obolibrary.org/obo/UBERON_0001091	Skeletal element within the mouth (or in some species, upper part of the digestive tract) that is composed of dentine and is used in procuring or masticating food.	
MONDO:0016204	idiopathic copper-associated cirrhosis	biolink:Disease	mondo	Orphanet:209919|ICD10:K74.6|SCTID:715864007	ordo_disease	non-Wilsonian hepatic copper toxicosis of infancy and childhood	http://purl.obolibrary.org/obo/MONDO_0016204	Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining.	SNOMEDCT:715864007|ORPHA:209919
MONDO:0018865	striate palmoplantar keratoderma	biolink:Disease	mondo	Orphanet:50942|ICD10:Q82.8|UMLS:CN205191|SCTID:764958008	ordo_disease	keratosis palmoplantaris striata|keratosis palmoplantaris striata et areata|keratosis palmoplantaris varians of Wachters	http://purl.obolibrary.org/obo/MONDO_0018865	Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed.	SNOMEDCT:764958008|ORPHA:50942|UMLS:CN205191
UBERON:0001090	synovial fluid	biolink:AnatomicalEntity	mondo			joint fluid	http://purl.obolibrary.org/obo/UBERON_0001090	Joint fluid is a transudate of plasma that is actively secreted by synovial cells.	
MONDO:0018868	metachromatic leukodystrophy	biolink:Disease	mondo	Orphanet:512|UMLS:C0023522|ICD10:E75.25|DOID:10581|ICD10:E75.2|NCIT:C61251|MESH:D007966|MedDRA:10067609|ICD10:E75.29|SCTID:66521008	ordo_disease	MLD|sulfatide lipoidosis|deficiency of cerebroside-sulfatase|arylsulfatase A deficiency|Scholz cerebral sclerosis	http://purl.obolibrary.org/obo/MONDO_0018868	Metachromatic leukodystrophy (MLD) is a rare lysosomal storage disorder characterized byintralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function.	SNOMEDCT:66521008|DOID:10581|MEDDRA:10067609|UMLS:C2713319|MESH:C538597|ORPHA:512|NCIT:C61251|MESH:D007966|UMLS:C0023522
MONDO:0016205	IRVAN syndrome	biolink:Disease	mondo	UMLS:C3665812|ICD10:H35.0|Orphanet:209943|GARD:0012868	ordo_disease	idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome|idiopathic retinal-aneurysms-neuroretinitis syndrome	http://purl.obolibrary.org/obo/MONDO_0016205		UMLS:C3665812|ORPHA:209943
MONDO:0016206	idiopathic uveal effusion syndrome	biolink:Disease	mondo	UMLS:CN200962|Orphanet:209956	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016206		UMLS:CN200962|ORPHA:209956
MONDO:0018867	obsolete maple syrup urine disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018867		
UBERON:3000982	tail external integument structure	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_3000982	Dermal, epidermal, glandular and pigment structures of the tail integument.	
MONDO:0018862	obsolete cat-scratch disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018862		
MONDO:0016200	qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -	biolink:Disease	mondo	Orphanet:209203	ordo_group_of_disorders	qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase type -	http://purl.obolibrary.org/obo/MONDO_0016200		ORPHA:209203
MONDO:0018861	Zellweger-like syndrome without peroxisomal anomalies	biolink:Disease	mondo	UMLS:C4305104|SCTID:718880003|ICD10:Q87.8|UMLS:CN205183|Orphanet:50812	ordo_disease	AHN-Lerman-Sagie syndrome	http://purl.obolibrary.org/obo/MONDO_0018861	Zellweger-like syndrome without peroxisomal anomalies is an extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive.	ORPHA:50812|UMLS:C4305104|SNOMEDCT:718880003|UMLS:CN205183
MONDO:0018864	Kikuchi-Fujimoto disease	biolink:Disease	mondo	SCTID:127217009|NCIT:C71719|GARD:0006834|UMLS:C0398367|MESH:D020042|Orphanet:50918|ICD10:I88.1	ordo_disease	Kikuchi necrotizing lymphadenitis|histiocytic necrotizing lymphadenitis|histiocytic necrotising lymphadenitis|Kikuchi's disease|nosocomial Kikuchi's disease|Kikuchi-Fujimoto's disease|Kikuchi disease	http://purl.obolibrary.org/obo/MONDO_0018864	Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disorder, characterized by regional cervical lymphadenopathy with tenderness, usually accompanied with mild fever and night sweats. Less frequent symptoms include weight loss, nausea, vomiting, sore throat.	NCIT:C71719|ORPHA:50918|UMLS:C0398367|SNOMEDCT:127217009|MESH:D020042
MONDO:0016201	qualitative or quantitative defects of myotilin	biolink:Disease	mondo	Orphanet:209224	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016201		ORPHA:209224
MONDO:0016202	autosomal dominant rhegmatogenous retinal detachment	biolink:Disease	mondo	ICD10:H33.0|UMLS:C1836081|Orphanet:209867	ordo_disease	rhegmatogenous retinal detachment, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0016202	Autosomal dominant form of rhegmatogenous retinal detachment.	ORPHA:209867|UMLS:C1836081
MONDO:0018863	obsolete leptospirosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018863		
HGNC:16791	TSEN15	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16791		
MONDO:0018860	microlissencephaly-micromelia syndrome	biolink:Disease	mondo	UMLS:CN205181|Orphanet:50810|ICD10:Q04.3	ordo_malformation_syndrome	Basel-Vanagaite-Sirota syndrome	http://purl.obolibrary.org/obo/MONDO_0018860	Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case.	ORPHA:50810|UMLS:CN205181
MONDO:0004229	acantholytic variant squamous cell breast carcinoma	biolink:Disease	mondo	UMLS:C1519485|NCIT:C40359|DOID:7459|EFO:1001969		squamous cell breast carcinoma, acantholytic variant	http://purl.obolibrary.org/obo/MONDO_0004229	A squamous cell carcinoma that arises from the breast parenchyma and is characterized by cellular discohesion resulting in a pseudoangiosarcomatous pattern.	DOID:7459|NCIT:C40359|UMLS:C1519485
MONDO:0004228	obsolete hypogonadotropism	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004228		
UBERON:0037094	wall of common carotid artery	biolink:AnatomicalEntity	mondo			common carotid arterial wall	http://purl.obolibrary.org/obo/UBERON_0037094		
MONDO:0006888	paraneoplastic polyneuropathy	biolink:Disease	mondo	DOID:8681|SCTID:77659000|UMLS:C0270932|MESH:D020364|EFO:1001085|ICD9:357.3|MedDRA:10062289|NCIT:C3981		paraneoplastic polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0006888	A diffuse or multifocal peripheral neuropathy caused by the effects of a distant neoplasm. It may be attributed, in part, to the immune response to neoplasm-elaborated proteins. The neuropathy may be sensory, motor, mixed or autonomic. It may be the initial presentation of an occult neoplasm. Detection and resection of the neoplasm may result in cure.	DOID:8681|NCIT:C3981|UMLS:C0270932|SNOMEDCT:77659000|MESH:D020364
MONDO:0004225	monoclonal gammopathy of uncertain significance	biolink:Disease	mondo	NCIT:C3996|SCTID:58648008|GARD:0007034|ONCOTREE:MGUS|MESH:D008998|ICD9:238.6|UMLS:C0026470|SCTID:277577000|ICDO:9765/1|EFO:1000836|DOID:7442		monoclonal gammopathy, benign|benign monoclonal gammopathy|MGUS|monoclonal gammopathy of unknown significance|monoclonal gammopathy of undetermined significance (morphologic abnormality)|monoclonal gammopathy of undetermined significance|monoclonal gammopathy of undetermined significance (MGUS)|monoclonal gammopathy Of undetermined significance (MGUS)	http://purl.obolibrary.org/obo/MONDO_0004225	A condition characterized by the presence of a monoclonal gammopathy (MG) in which the clonal mass has not reached a predefined state in which the condition is considered malignant. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases.	DOID:7442|NCIT:C3996|UMLS:C0026470|MESH:D008998|SNOMEDCT:277577000|SNOMEDCT:58648008
MONDO:0006889	paraphimosis	biolink:Disease	mondo	SCTID:13758004|MESH:D010263|ICD10:N47.2|MedDRA:10033890|UMLS:C0030483|DOID:5334|EFO:1001086|NCIT:C34893			http://purl.obolibrary.org/obo/MONDO_0006889	A condition in which the foreskin of an uncircumcised male is retracted and cannot be pulled back over the glans penis. It results in painful swelling of the glans penis and, if is not corrected, may lead to gangrene.	SNOMEDCT:13758004|DOID:5334|UMLS:C0030483|NCIT:C34893|MESH:D010263
MONDO:0004224	chronic metabolic polyneuropathy	biolink:Disease	mondo	NCIT:C35602|UMLS:C1333042|DOID:7441		chronic metabolic polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0004224		DOID:7441|UMLS:C1333042|NCIT:C35602
MONDO:0004227	epididymal adenomatoid tumor	biolink:Disease	mondo	SCTID:449052009|DOID:745|NCIT:C6382|UMLS:C1333415		benign epididymal epithelial mesothelioma|adenomatoid tumor of epididymis|adenomatoid tumor of the epididymis|adenomatoid neoplasm of epididymis|adenomatoid neoplasm of the epididymis|epididymis adenomatoid tumor|epididymal adenomatoid tumor	http://purl.obolibrary.org/obo/MONDO_0004227	A benign, usually asymptomatic small mesothelial tumor that arises from the epididymis.	UMLS:C1333415|SNOMEDCT:449052009|DOID:745|NCIT:C6382
MONDO:0006886	thyroid gland papillary and follicular carcinoma	biolink:Disease	mondo	DOID:3968|MESH:D018265|NCIT:C7380|EFO:1001083|UMLS:C0206683		papillary follicular thyroid adenocarcinoma|papillary and follicular adenocarcinoma|thyroid gland papillary and follicular carcinoma|papillary and follicular carcinoma	http://purl.obolibrary.org/obo/MONDO_0006886	A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271)	UMLS:C0206683|NCIT:C7380|MESH:D018265|DOID:3968
MONDO:0004226	diffuse intraductal papillomatosis	biolink:Disease	mondo	NCIT:C7364|UMLS:C1377912|DOID:7444		diffuse intraductal papillomatosis	http://purl.obolibrary.org/obo/MONDO_0004226		UMLS:C1377912|DOID:7444|NCIT:C7364
MONDO:0006887	parametritis	biolink:Disease	mondo	MESH:D010249|SCTID:280483007|EFO:1001084|DOID:1260|UMLS:C0030455		inflammation of parametrium|parametrium inflammation|pelvic cellulitis	http://purl.obolibrary.org/obo/MONDO_0006887	Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the broad ligament.	UMLS:C0030455|MESH:D010249|DOID:1260|SNOMEDCT:280483007
MONDO:0004221	uterine corpus perivascular epithelioid cell tumor	biolink:Disease	mondo	ONCOTREE:UPECOMA|DOID:7437|NCIT:C40180|UMLS:C1519862		uterine perivascular epithelioid cell tumor|uterine corpus PEComa|uterus perivascular epithelioid cell tumor|uterine corpus perivascular epithelioid cell tumor|body of uterus neoplasm with perivascular epithelioid cell differentiation	http://purl.obolibrary.org/obo/MONDO_0004221	A neoplasm with perivascular epithelioid cell differentiation arising from the uterine corpus wall.	DOID:7437|NCIT:C40180|UMLS:C1519862
MONDO:0006884	panophthalmitis	biolink:Disease	mondo	ICD9:360.02|COHD:438738|SCTID:33382000|MESH:D010202|MedDRA:10033683|EFO:1001081|DOID:13732|UMLS:C0030332			http://purl.obolibrary.org/obo/MONDO_0006884	Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. Pain may be severe and the globe may rupture. In endophthalmitis the globe does not rupture.	UMLS:C0030332|DOID:13732|MESH:D010202|SNOMEDCT:33382000
MONDO:0006885		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006885		
MONDO:0004220	endometrial endometrioid adenocarcinoma with spindled epithelial cells	biolink:Disease	mondo	DOID:7436|NCIT:C27850|UMLS:C1336913		endometrial endometrioid adenocarcinoma with spindled epithelial cells|sarcomatoid uterine corpus endometrioid adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004220	A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of spindled malignant epithelial cells.	NCIT:C27850|UMLS:C1336913|DOID:7436
MONDO:0004223	polyp of middle ear	biolink:Disease	mondo	SCTID:73103007|DOID:7439|UMLS:C0271466|ICD10:H74.4|NCIT:C6933		polyp - middle ear|middle Ear polyp|middle ear polyp|polyp of the middle ear	http://purl.obolibrary.org/obo/MONDO_0004223	A benign polypoid growth in the middle ear.	DOID:7439|UMLS:C0271466|SNOMEDCT:73103007|NCIT:C6933
MONDO:0043875	tumor lysis syndrome	biolink:Disease	mondo	UMLS:C0041364|NCIT:C3425|SCTID:277605001|EFO:1001479|MESH:D015275		tumor lysis syndrome|syndrome, tumor lysis|syndromes, tumor lysis|syndromes, tumour lysis|syndrome, tumour lysis|tumour lysis syndromes|tumor lysis syndromes|tumour lysis syndrome	http://purl.obolibrary.org/obo/MONDO_0043875	A condition of metabolic abnormalities that result from a spontaneous or therapy-related cytolysis of tumor cells. Tumor lysis syndrome typically occurs in aggressive, rapidly proliferating lymphoproliferative disorders. Burkitt lymphoma and T cell acute lymphoblastic leukemia are commonly associated with this syndrome. Metabolic abnormalities include hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia and hypocalcemia and may result in renal failure, multiple organ failure, and death.	MESH:D015275|NCIT:C3425|SNOMEDCT:277605001|UMLS:C0041364
MONDO:0006882	orchitis (disease)	biolink:Disease	mondo	NCIT:C97145|SCTID:274718005|UMLS:C0029191|MedDRA:10031064|EFO:1001078|MESH:D009920|DOID:2518|HP:0100796|ICD10:N45.2		testis inflammation|testisitis|Orchititis|Inflammation of testis|orchitis|inflammation of testis	http://purl.obolibrary.org/obo/MONDO_0006882	Inflammation of one or both testes due to viral or bacterial infections. Signs and symptoms include enlargement or tenderness of the affected testis, inguinal lymphadenopathy, blood in the semen, and pain during urination, intercourse, or ejaculation.	SNOMEDCT:274718005|MESH:D009920|DOID:2518|NCIT:C97145|UMLS:C0029191
MONDO:0006883	malignant superior sulcus neoplasm	biolink:Disease	mondo	UMLS:C0549471|NCIT:C7527|DOID:8007|SCTID:254638002|EFO:1001080		malignant Superior sulcus tumor of the lung|pulmonary sulcus neoplasm, malignant|malignant Superior sulcus neoplasm of lung|malignant Superior sulcus neoplasm of the lung|malignant pulmonary sulcus neoplasm|malignant Superior sulcus lung tumor|superior sulcus tumor|malignant Superior sulcus lung neoplasm|Pancoast tumor|superior pulmonary sulcus syndrome|Pancoast's tumor|Pancoast's tumour|superior pulmonary sulcus syndrome (disorder) [ambiguous]|malignant Superior sulcus neoplasm|Pancoast's syndrome|malignant Superior sulcus tumor|malignant Superior sulcus tumor of lung|pulmonary sulcus tumor	http://purl.obolibrary.org/obo/MONDO_0006883	A malignant neoplasm originating from the apical lung. Most malignant superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor.	UMLS:C0549471|NCIT:C7527|DOID:8007|SNOMEDCT:254638002
MONDO:0004222	ovarian clear cell cystadenocarcinoma	biolink:Disease	mondo	UMLS:C0279667|DOID:7438|NCIT:C7980		ovarian clear cell cystadenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004222	A malignant glandular epithelial neoplasm arising from the ovary. It is characterized by the presence of clear and hobnail cells and cystic structures.	DOID:7438|UMLS:C0279667|NCIT:C7980
MONDO:0006880	oral leukoedema	biolink:Disease	mondo	DOID:4557|MedDRA:10057365|UMLS:C0023523|EFO:1001075|ICD9:528.79|MESH:D007967|SCTID:67795000		leukedema of mouth	http://purl.obolibrary.org/obo/MONDO_0006880	A disorder of the buccal mucosa resembling early leukoplakia, characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (Dorland, 27th ed)	SNOMEDCT:67795000|DOID:4557|MESH:D007967|UMLS:C0023523
MONDO:0006881	orbital cellulitis	biolink:Disease	mondo	SCTID:194005002|COHD:434942|EFO:1001076|DOID:11234|NCIT:C99000|UMLS:C0149507|MESH:D054517|ICD9:376.01|MedDRA:10031036|ICD10:H05.01		orbital cellulitis	http://purl.obolibrary.org/obo/MONDO_0006881	Inflammation of the eye tissues posterior to the orbital septum, and generally secondary to an infection spread from adjacent sinuses. Signs and symptoms of the affected eye include sudden loss of vision, erythema, edema, decreased eye movement, and pain. Treatment is conducted via intravenous antibiotics, observation, and surgical intervention when necessary.	MESH:D054517|NCIT:C99000|SNOMEDCT:194005002|DOID:11234|UMLS:C0149507
UBERON:0013067	colorectal mucosa	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0013067	A mucosa that is part of a colorectum.	
UBERON:0013069	popliteal area	biolink:AnatomicalEntity	mondo			knee pit|popliteal region|popliteal fossa|popliteal space	http://purl.obolibrary.org/obo/UBERON_0013069	A depression on the ventral side of the femur, at the knee joint, between the condyles.	
UBERON:0001084	skin of head	biolink:AnatomicalEntity	mondo			head zone of skin|zone of skin of adult head|head skin|adult head zone of skin|zone of skin of head	http://purl.obolibrary.org/obo/UBERON_0001084	A zone of skin that is part of a head [Automatically generated definition].	
MONDO:0018859	obsolete Leigh disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018859		
MONDO:0018858	Graham Little-Piccardi-Lassueur syndrome	biolink:Disease	mondo	ICD10:L66.1|UMLS:CN205176|GARD:0003195|Orphanet:505|SCTID:718215008	gard_rare|ordo_disease	Graham-Little-Piccardi-Lassueur syndrome|Piccardi-Lassueur-Little syndrome|Graham Little syndrome	http://purl.obolibrary.org/obo/MONDO_0018858	Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin.	SNOMEDCT:718215008|ORPHA:505|UMLS:CN205176
UBERON:0001083	myocardium of ventricle	biolink:AnatomicalEntity	mondo			ventricle cardiac muscle|ventricular myocardium|ventricle myocardium	http://purl.obolibrary.org/obo/UBERON_0001083	Muscular layer of the cardiac ventricle composed of a compact myocardial layer surrounding the trabecular layer.	
UBERON:0001085	skin of trunk	biolink:AnatomicalEntity	mondo			torso zone of skin|trunk zone of skin|trunk skin|zone of skin of trunk|zone of skin of torso	http://purl.obolibrary.org/obo/UBERON_0001085	A zone of skin that is part of a trunk [Automatically generated definition].	
MONDO:0018855	keratosis pilaris atrophicans	biolink:Disease	mondo	SCTID:400059005|OMIM:604093|ICD9:757.39|MESH:C537412|Orphanet:498|ICD10:L85.8|GARD:0001042	ordo_group_of_disorders|gard_rare	honeycomb atrophy|keratosis pilaris atrophicans facies|Atrophodermia reticulata symmetrica faciei|keratosis pilaris|burnett Schwartz Berberian syndrome|folliculitis ulerythematosa|amelogenesis imperfecta, hypoplastic-hypomaturation, X-linked 2|ulerythema ophryogenesis|keratosis pilaris atrophicans; KPA|ulerythema ophryogenes with multiple congenital anomalies|ulerythema ophryogenes|folliculitis ulerythematosa reticulata|Atrophodermia reticulata|Atrophodermia vermiculata|KPA	http://purl.obolibrary.org/obo/MONDO_0018855	An uncommon form of keratosis pilaris in which there are scar-like follicular depressions and loss of hair.	MESH:C537412|ORPHA:498|http://identifiers.org/omim/604093|SNOMEDCT:400059005
MONDO:0018854	acquired purpura fulminans	biolink:Disease	mondo	Orphanet:49566|UMLS:C4510896|UMLS:CN205163|MedDRA:10037556|SCTID:725157006|ICD10:D65	ordo_disease	acquired purpura fulminans	http://purl.obolibrary.org/obo/MONDO_0018854	Purpura fulminans (PF) is a life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. PF may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of PF that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic PF.	UMLS:C4510896|SNOMEDCT:725157006|MEDDRA:10037556|UMLS:C0043068|MESH:D014884|UMLS:C0085650|MESH:D055665|UMLS:CN205163|ORPHA:49566
UBERON:0001082	epicardium of ventricle	biolink:AnatomicalEntity	mondo			ventricular epicardium|cardiac ventricle epicardium	http://purl.obolibrary.org/obo/UBERON_0001082	An epicardial layer that lines a cardiac ventricle	
MONDO:0018857	creeping myiasis	biolink:Disease	mondo	MedDRA:10059547|UMLS:C1562462|Orphanet:504|SCTID:417441005|ICD10:B87.0|GARD:0001609	gard_rare|ordo_disease	migratory myiasis	http://purl.obolibrary.org/obo/MONDO_0018857		UMLS:C0546999|UMLS:C1562462|ORPHA:504|MEDDRA:10059547|MESH:D007815|SNOMEDCT:417441005
UBERON:0001081	endocardium of ventricle	biolink:AnatomicalEntity	mondo			endocardium of lower chamber of heart|endocardium of ventricle of heart|heart ventricle endocardium|ventricle endocardial tissue|endocardium of heart ventricle|ventricle endocardium|ventricular endocardium|lower chamber of heart endocardium|ventricle of heart endocardium|cardiac ventricle endocardium|endocardium of cardiac ventricle	http://purl.obolibrary.org/obo/UBERON_0001081	Endocardium that is part of the cardiac ventricle.	
MONDO:0018856	lichen amyloidosis	biolink:Disease	mondo	ICD10:L99.0*|SCTID:718105008|Orphanet:49804|ICD10:E85.4+	ordo_disease	lichen amyloidosus|amyloid lichen	http://purl.obolibrary.org/obo/MONDO_0018856	Lichen amyloidosis is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by the development of pruritic, often pigmented, hyperkeratotic papules on trunk and extremities, especially on the shins, and histologically by the deposition of amyloid or amyloid-like proteins in the papillary dermis.	SNOMEDCT:718105008|ORPHA:49804
MONDO:0018851	familial keratoacanthoma	biolink:Disease	mondo	Orphanet:493|UMLS:CN227546|ICD10:L85.8|SCTID:716774008	ordo_disease	multiple keratoacanthoma|hereditary keratoacanthoma	http://purl.obolibrary.org/obo/MONDO_0018851	Multiple familial keratoacanthoma (KA) of Witten and Zak is a rare a rare inherited skin cancer syndrome and is characterized by the coexistence of features characteristic of both multiple KA, Ferguson Smith type and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant.	SNOMEDCT:716774008|UMLS:CN227546|ORPHA:493
MONDO:0018850	proliferating trichilemmal cyst	biolink:Disease	mondo	GARD:0004509|Orphanet:492|SCTID:254678009|NCIT:C27125|UMLS:C0345992|ICDO:8103/1|ICDO:8103/0|ONCOTREE:PPCT|UMLS:C2959585|ICD10:L72.1	ordo_disease|gard_rare	proliferating Pilar tumor|proliferating trichilemmal tumor|proliferating pilar cystic tumor|Pilar tumor|Pilar cyst|proliferating pilar cyst|proliferating Tricholemmal tumor	http://purl.obolibrary.org/obo/MONDO_0018850	Proliferating trichilemmal tumor is a rare large, multinodular, usually benign, tumor that is generally located in the posterior part of the scalp in aged women (over 50 years). It first appears as a painless nodule that later grows into a solid or partially cystic tumor that is mobile over the underlying subcutaneous tissues. It can present ulceration, inflammation or even bleeding and can cause necrosis of the adjacent tissues.	SNOMEDCT:254678009|UMLS:C0345992|ORPHA:492|UMLS:C2959585|NCIT:C27125
MONDO:0018853	transgrediens et progrediens palmoplantar keratoderma	biolink:Disease	mondo	Orphanet:495|UMLS:CN205162|ICD10:Q82.8	ordo_disease	transgrediens et progrediens PPK|Greither disease|progressive diffuse PPK|keratosis extremitatum hereditaria progrediens|keratosis palmoplantaris transgrediens et progrediens|progressive diffuse palmoplantar keratoderma	http://purl.obolibrary.org/obo/MONDO_0018853		ORPHA:495|UMLS:CN205162
MONDO:0018852	achromatopsia	biolink:Disease	mondo	MedDRA:10000454|NCIT:C84528|Orphanet:49382|ICD9:368.54|UMLS:C0152200|ICD10:H53.51|ICD10:H53.5|DOID:13911|SCTID:102450007	clingen|ordo_disease	monochromatism|Rod monochromacy|complete or incomplete color blindness|total color blindness|ACHM|Rod monochromatism|Pingelapese blindness	http://purl.obolibrary.org/obo/MONDO_0018852	Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.	UMLS:C0152200|MEDDRA:10000454|ORPHA:49382|SNOMEDCT:102450007|DOID:13911|NCIT:C84528
UBERON:0001088	urine	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0001088	Excretion that is the output of a kidney	
UBERON:0001087	pleural fluid	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0001087	Transudate contained in the pleural cavity.	
UBERON:0001089	sweat	biolink:AnatomicalEntity	mondo			skin exudate	http://purl.obolibrary.org/obo/UBERON_0001089	Secretion produced by a sweat gland.	
MONDO:0016260	uterine corpus rhabdomyosarcoma	biolink:Disease	mondo	UMLS:C4288047|Orphanet:213615|ICD10:C54.2|NCIT:C127058	ordo_disease	uterine corpus rhabdomyosarcoma|body of uterus rhabdomyosarcoma (disease)|rhabdomyosarcoma (disease) of body of uterus|rhabdomyosarcoma of the corpus uteri|body of uterus rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0016260	A rare malignant heterologous neoplasm with skeletal muscle differentiation arising from the uterine corpus. It usually manifests with vaginal bleeding. The prognosis is poor.	UMLS:C4288047|ORPHA:213615|NCIT:C127058
MONDO:0004279	glossopharyngeal motor neuropathy	biolink:Disease	mondo	DOID:7558|NCIT:C27212|UMLS:C0751942		glossopharyngeal nerve motor peripheral neuropathy|motor peripheral neuropathy of glossopharyngeal nerve	http://purl.obolibrary.org/obo/MONDO_0004279	Diseases of the ninth cranial (glossopharyngeal) nerve or its nuclei in the medulla. The nerve may be injured by diseases affecting the lower brain stem, floor of the posterior fossa, jugular foramen, or the nerve's extracranial course. Clinical manifestations include loss of sensation from the pharynx, decreased salivation, and syncope. Glossopharyngeal neuralgia refers to a condition that features recurrent unilateral sharp pain in the tongue, angle of the jaw, external auditory meatus and throat that may be associated with syncope. Episodes may be triggered by cough, sneeze, swallowing, or pressure on the tragus of the ear. (Adams et al., Principles of Neurology, 6th ed, p1390)	NCIT:C27212|UMLS:C0751942|DOID:7558
MONDO:0004276	ceruminoma	biolink:Disease	mondo	NCIT:C6088|UMLS:C0334352|UMLS:C1333488|SCTID:403945001|DOID:7549|ICDO:8420/0		ceruminous adenoma of the external auditory canal|external auditory canal ceruminous adenoma|ceruminous adenoma of external auditory canal|ceruminous adenoma (morphologic abnormality)|ceruminous adenoma|adenoma, ceruminous gland, benign	http://purl.obolibrary.org/obo/MONDO_0004276	A benign epithelial neoplasm derived from ceruminous glands in the external auditory canal. It presents as a grey mass covered by skin. It is characterized by a proliferation of glands composed of cells with abundant eosinophilic and granular cytoplasm.	SNOMEDCT:403945001|NCIT:C6088|UMLS:C0334352|DOID:7549|UMLS:C1333488
MONDO:0004275	osteosarcoma arising in bone Paget disease	biolink:Disease	mondo	DOID:7542|ICDO:9184/3|NCIT:C6469|UMLS:C1335148		osteosarcoma arising in bone Paget's disease|Paget osteosarcoma|osteosarcoma arising in Paget disease of bone|osteosarcoma arising in osseous Paget's disease|osteosarcoma arising in Paget's disease of bone|osteosarcoma arising in bone Paget disease|Paget's osteosarcoma|osteosarcoma arising in osteitis deformans	http://purl.obolibrary.org/obo/MONDO_0004275	A sarcomatous transformation of pre-existing Paget disease of the bone. Osteosarcomas arising from Paget disease of the bone are high grade lesions and usually have a poor prognosis.	NCIT:C6469|UMLS:C1335148|DOID:7542
MONDO:0004278	infiltrating bladder urothelial carcinoma sarcomatoid variant	biolink:Disease	mondo	UMLS:C1512743|ONCOTREE:SCB|DOID:7553|NCIT:C39824|EFO:1000303|UMLS:C1512745|UMLS:C1512744		sarcomatoid carcinoma of the urinary bladder|infiltrating bladder urothelial carcinoma sarcomatoid variant|infiltrating bladder urothelial carcinoma, sarcomatoid variant with heterologous elements|infiltrating bladder urothelial carcinoma, sarcomatoid variant without heterologous elements	http://purl.obolibrary.org/obo/MONDO_0004278	An invasive transitional cell carcinoma of the bladder that exhibits spindle cell sarcomatoid features.	UMLS:C1512744|UMLS:C1512745|UMLS:C1512743|NCIT:C39824|DOID:7553
MONDO:0004277	gonorrhea	biolink:Disease	mondo	SCTID:15628003|ICD10:A54.9|ICD9:098.32|MESH:D006069|ICD9:098.2|GARD:0006499|NCIT:C92950|UMLS:C0018081|ICD9:098|DOID:7551|ICD9:098.89|ICD10:A54|COHD:433417		infections, Neisseria gonorrhoeae|acrodermatitis, papular infantile|chronic gonococcal infectious disease of upper genitourinary tract|GC|Neisseria gonorrhoeae infection|PAS|PAC|chronic gonococcal infectious disease of lower genitourinary tract|acrodermatitis, infantile lichenoid|Crosti-gianotti syndrome|papular acrodermatitis of childhood|Gianotti Crosti syndrome	http://purl.obolibrary.org/obo/MONDO_0004277	A common sexually transmitted bacterial infection caused by Neisseria gonorrhoeae. It is transmitted through vaginal, oral, or anal intercourse. Infected individuals may be asymptomatic. Symptoms in males include burning sensation during urination, discharge from the penis, and painful swelling of the testes. Symptoms in females include painful urination, vaginal discharge, and vaginal bleeding between periods. If untreated, the infection may lead to pelvic inflammatory disease.	MESH:D006069|NCIT:C92950|UMLS:C0018081|SNOMEDCT:15628003|DOID:7551
MONDO:0004272	urinary bladder tuberculosis	biolink:Disease	mondo	DOID:754|SCTID:32268008|ICD10:A18.12|UMLS:C0152793|ICD9:016.10|ICD9:016.14|ICD9:016.1		tuberculous cystitis|tuberculosis of bladder, unspecified examination|bladder tuberculous|urinary bladder tuberculosis|tuberculosis of bladder|bladder tuberculosis	http://purl.obolibrary.org/obo/MONDO_0004272	A tuberculosis that involves the urinary bladder.	SNOMEDCT:32268008|UMLS:C0152793|DOID:754
MONDO:0004271	pregnancy adenoma	biolink:Disease	mondo	ICDO:8204/0|DOID:7539|NCIT:C9473|UMLS:C1266023		Lactating adenoma|Lactating adenoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0004271	A tubular type adenoma of the breast in which, during pregnancy and lactation, the epithelial cells show extensive secretory changes.	DOID:7539|UMLS:C1266023|NCIT:C9473
MONDO:0004274	mixed epithelial/mesenchymal metaplastic breast carcinoma	biolink:Disease	mondo	ONCOTREE:MMBC|UMLS:C1513365|DOID:7541|NCIT:C40364		mixed type metaplastic breast cancer|breast carcinosarcoma	http://purl.obolibrary.org/obo/MONDO_0004274	An invasive breast carcinoma characterized by the presence of a mesenchymal cellular component. The mesenchymal cellular component ranges from cartilaginous and osseous, to purely sarcomatous.	NCIT:C40364|DOID:7541|UMLS:C1513365
MONDO:0004273	breast apocrine adenoma	biolink:Disease	mondo	DOID:7540|UMLS:C1388299|NCIT:C40383		breast apocrine adenoma|apocrine adenoma of breast	http://purl.obolibrary.org/obo/MONDO_0004273	A rare, benign and well circumscribed neoplasm that arises from the breast. It is characterized by the proliferation of epithelial cells with extensive apocrine metaplasia.	UMLS:C1388299|DOID:7540|NCIT:C40383
ECTO:9001975	antimicrobial food preservative exposure	biolink:OntologyClass	mondo			exposure to antimicrobial food preservative	http://purl.obolibrary.org/obo/ECTO_9001975	An exposure to antimicrobial food preservative.	
MONDO:0004270	breast ductal adenoma	biolink:Disease	mondo	NCIT:C40384|DOID:7538|UMLS:C1511307		breast ductal adenoma|ductal adenoma	http://purl.obolibrary.org/obo/MONDO_0004270	A benign, well circumscribed neoplasm that is located within the lumen of a duct in the breast parenchyma. It is characterized by the presence of glandular structures at the periphery and fibrous tissue at the center of the tumor.	NCIT:C40384|DOID:7538|UMLS:C1511307
MONDO:0016269	high-grade neuroendocrine carcinoma of the corpus uteri	biolink:Disease	mondo	ICD10:C54.3|Orphanet:213731|ICD10:C54.2|ICD10:C54.1|ICD10:C54.0|ICD10:C54.8|UMLS:CN201058	ordo_disease	poorly differentiated neuroendocrine carcinoma of the endometrium|high-grade neuroendocrine carcinoma of the uterine corpus|poorly differentiated neuroendocrine carcinoma of the corpus uteri	http://purl.obolibrary.org/obo/MONDO_0016269	High-grade neuroendocrine carcinoma of the corpus uteri is an extremely rare, aggressive, primary uterine neoplasm, originating from neuroendocrine cells scattered within the endometrium, characterized, macroscopically, by a bulky, frequently polypoid, mass with abundant necrosis located in the uterus and, histologically, by rosette-like and cord-like structures consisting of small, rounded cells with oval nuclei and scarce cytoplasm. Patients often present with dysfunctional uterine bleeding, pelvic or abdominal mass and, especially in later stages of the disease, abdominal pain. Symptomatic metastatic spread or symptoms related to a paraneoplastic syndrome, such as retinopathy, or Cushing syndrome due to ectopic ACTH production, may be associated.	UMLS:CN201058|ORPHA:213731
HP:0005561	Abnormality of bone marrow cell morphology	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:127035006|UMLS:C4021634|MSH:D001855|UMLS:C0005956		Bone marrow disease|Anomaly of the bone marrow cells	http://purl.obolibrary.org/obo/HP_0005561	An anomaly of the form or number of cells in the bone marrow.	
MONDO:0016265	obsolete endometrial stromal sarcoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016265		
MONDO:0016266	squamous cell carcinoma of the corpus uteri	biolink:Disease	mondo	ICD10:C50|Orphanet:213716	ordo_disease	endometrial squamous cell carcinoma|body of uterus squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0016266	A squamous cell carcinoma that involves the body of uterus.	ORPHA:213716
MONDO:0016267	undifferentiated carcinoma of the corpus uteri	biolink:Disease	mondo	ICD10:C50|Orphanet:213721	ordo_disease	endometrial undifferentiated carcinoma|body of uterus undifferentiated carcinoma	http://purl.obolibrary.org/obo/MONDO_0016267	Undifferentiated carcinoma of the corpus uteri is a rare cancer of corpus uteri presenting as a large, polypoid, intraluminal mass with necrosis, composed of small to intermediate-size, relatively uniform, dyshesive cells displaying no differentiation. It usually presents with dysfunctional bleeding or vaginal discharge and, less often, abdominal pain. Association with Lynch syndrome was reported.	ORPHA:213721
MONDO:0016268	papillary carcinoma of the corpus uteri	biolink:Disease	mondo	Orphanet:213726|ICD10:C54.1|UMLS:CN201057	ordo_disease	body of uterus papillary carcinoma|endometrial capillary carcinoma	http://purl.obolibrary.org/obo/MONDO_0016268	A papillary carcinoma that involves the body of uterus.	UMLS:CN201057|ORPHA:213726
MONDO:0016261	obsolete sarcoma of the corpus uteri	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016261		
MONDO:0016262	leiomyosarcoma of the corpus uteri	biolink:Disease	mondo	UMLS:C0280631|ONCOTREE:ULMS|ICD10:C54.2|NCIT:C6340|Orphanet:213625|DOID:5289|SCTID:447389009	ordo_disease	uterine leiomyosarcoma|corpus uteri leiomyosarcoma|leiomyosarcoma of uterine body|leiomyosarcoma of the uterine body|leiomyosarcoma of uterus|leiomyosarcoma of the uterus|body of uterus leiomyosarcoma|uterine body leiomyosarcoma|uterus leiomyosarcoma|leiomyosarcoma of corpus uteri|leiomyosarcoma of body of uterus|leiomyosarcoma of uterine corpus|leiomyosarcoma of the body of uterus|leiomyosarcoma - uterus|leiomyosarcoma of the corpus uteri|leiomyosarcoma of the uterine corpus|uterine corpus leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0016262	An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells.	NCIT:C6340|DOID:5289|ORPHA:213625|SNOMEDCT:447389009|UMLS:C0280631
MONDO:0016263	primitive neuroectodermal tumor of the corpus uteri	biolink:Disease	mondo	Orphanet:213630|UMLS:CN201052|ICD10:C54.8|ICD10:C54.3|ICD10:C54.2|ICD10:C54.1|ICD10:C54.0	ordo_disease	body of uterus primitive neuroectodermal tumor|peripheral neuroectodermal cancer of the corpus uteri|malignant peripheral neuroectodermal tumor of the corpus uteri|primitive neuroectodermal tumor of body of uterus	http://purl.obolibrary.org/obo/MONDO_0016263	A primitive neuroectodermal tumor that involves the body of uterus.	UMLS:CN201052|ORPHA:213630
MONDO:0016264	autoimmune hepatitis	biolink:Disease	mondo	MedDRA:10003827|UMLS:C1332355|GARD:0005871|NCIT:C27029|UMLS:C0241910|DOID:2048|SCTID:408335007|Orphanet:2137|ICD10:K75.4|EFO:0005676|MESH:D019693|COHD:200762|ICD9:571.42	gard_rare|ordo_disease	autoimmune liver disease|autoimmune chronic active hepatitis|autoimmune hepatitis|AIH|chronic autoimmune hepatitis|autoimmune chronic hepatitis|autoimmune hepatitis with centrilobular necrosis	http://purl.obolibrary.org/obo/MONDO_0016264	Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma.	MESH:D019693|MEDDRA:10003827|ORPHA:2137|UMLS:C1332355|UMLS:C0241910|SNOMEDCT:408335007|DOID:2048|NCIT:C27029
HGNC:28769	DRAM2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28769		
MONDO:0004287	pancreatic foamy gland adenocarcinoma	biolink:Disease	mondo	DOID:7577|UMLS:C1335303|NCIT:C37256		pancreatic foamy gland adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004287	A pancreatic ductal adenocarcinoma characterized by the presence of adenocarcinoma cells with foamy cytoplasm.	UMLS:C1335303|NCIT:C37256|DOID:7577
MONDO:0004286	pancreatic intraductal papillary-mucinous neoplasm	biolink:Disease	mondo	DOID:7575|UMLS:C1518869|NCIT:C38342|ONCOTREE:IPMN		pancreatic intraductal papillary-mucinous neoplasm|pancreatic intraductal papillary-mucinous tumor|intraductal papillary mucinous neoplasm|IPMN|pancreatic IPMN	http://purl.obolibrary.org/obo/MONDO_0004286	A usually slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts. Grossly, it is characterized by the presence of intraductal masses. Morphologically, there is proliferation of mucin-producing cells within the pancreatic ducts, intraductal accumulation of mucin, and a papillary growth pattern. It may be associated with the presence of an invasive carcinoma. It usually occurs in older patients. Signs and symptoms include epigastric pain, weight loss, jaundice, chronic pancreatitis, and diabetes mellitus.	NCIT:C38342|UMLS:C1518869|DOID:7575
MONDO:0004289	glottis verrucous carcinoma	biolink:Disease	mondo	NCIT:C8189|UMLS:C0280329|DOID:7583		verrucous carcinoma of the glottis|glottis verrucous carcinoma|glottic verrucous carcinoma|verrucous carcinoma of glottis	http://purl.obolibrary.org/obo/MONDO_0004289	An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the glottic area of the larynx. It usually presents with hoarseness.	UMLS:C0280329|DOID:7583|NCIT:C8189
MONDO:0004288	scirrhous breast carcinoma	biolink:Disease	mondo	UMLS:C0346151|DOID:7578|SCTID:254839007|ICDO:8514/3|NCIT:C7362		infiltrating carcinoma of the breast with fibrotic Stroma|breast scirrhous carcinoma|scirrhous carcinoma of the breast|infiltrating carcinoma of breast with fibrotic Stroma|scirrhous carcinoma of breast|scirrhous breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0004288	An infiltrating ductal breast carcinoma associated with stromal fibrosis.	SNOMEDCT:254839007|UMLS:C0346151|DOID:7578|NCIT:C7362
MONDO:0004283	vulvar clear cell hidradenocarcinoma	biolink:Disease	mondo	NCIT:C40307|UMLS:C1520076|DOID:7567		vulvar clear cell hidradenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004283	A vulvar sweat gland carcinoma characterized by the presence of clear cells.	UMLS:C1520076|DOID:7567|NCIT:C40307
MONDO:0004282	obsolete eccrine porocarcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004282		
MONDO:0004285	pancreatic intraductal papillary-mucinous carcinoma	biolink:Disease	mondo	Orphanet:424058|ICD10:C25.3|DOID:7574|UMLS:C1335304|NCIT:C5725	ordo_disease	intraductal papillary-colloid carcinoma of the pancreas|pancreatic intraductal papillary-colloidal carcinoma|intraductal papillary-colloidal carcinoma of pancreas|intraductal papillary-colloidal carcinoma of the pancreas|intraductal papillary-mucinous carcinoma of the pancreas|intraductal papillary-mucinous carcinoma of pancreas|pancreatic intraductal papillary mucinous carcinoma|pancreatic intraductal papillary-mucinous carcinoma|pancreatic intraductal papillary-colloid carcinoma|intraductal papillary mucinous carcinoma of pancreas|intraductal papillary-colloid carcinoma of pancreas	http://purl.obolibrary.org/obo/MONDO_0004285	A malignant glandular neoplasm arising from the exocrine pancreas. Microscopically it is characterized by the presence of mucoid stroma formation, papillary patterns, and cystic changes. It has been associated with KRAS and Tp53 gene mutations.	UMLS:C1335304|NCIT:C5725|DOID:7574|ORPHA:424058
MONDO:0004284	obsolete malignant cystic nephroma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004284		
MONDO:0004281	vulvar eccrine porocarcinoma	biolink:Disease	mondo	NCIT:C40306|DOID:7565|UMLS:C1520081		mammalian vulva eccrine porocarcinoma|eccrine porocarcinoma of mammalian vulva|vulvar eccrine porocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004281	An eccrine porocarcinoma that arises from the sweat glands in the vulva.	UMLS:C1520081|NCIT:C40306|DOID:7565
MONDO:0004280	asymmetric motor neuropathy	biolink:Disease	mondo	NCIT:C27953|UMLS:C1332341|DOID:7559			http://purl.obolibrary.org/obo/MONDO_0004280		NCIT:C27953|DOID:7559|UMLS:C1332341
MONDO:0016258	uterine corpus carcinofibroma	biolink:Disease	mondo	NCIT:C40182|ICD10:C54.1|ICD10:C54.0|UMLS:C1883485|ICDO:8934/3|ICD10:C54.8|Orphanet:213605|ICD10:C54.3|ICD10:C54.2	ordo_disease	uterine corpus Carcinofibroma|Carcinofibroma of the corpus uteri	http://purl.obolibrary.org/obo/MONDO_0016258	An uncommon malignant neoplasm arising from the uterine corpus. It is characterized by the presence of a malignant epithelial component and a benign mesenchymal (usually fibrous) component.	ORPHA:213605|UMLS:C1883485|NCIT:C40182
MONDO:0016259	carcinosarcoma of the corpus uteri	biolink:Disease	mondo	Orphanet:213610|NCIT:C9180|GARD:0012335|ICD10:C54.9	ordo_disease	malignant mixed mesodermal neoplasm of the uterus|uterine corpus malignant mixed Mullerian neoplasm|carcinosarcoma of corpus uteri|malignant mixed mesodermal tumor of uterine body|mixed Mullerian cancer of corpus uteri|uterine corpus malignant mixed Müllerian tumor|malignant mixed mesodermal tumor of the uterine body|carcinosarcoma of uterine corpus|carcinosarcoma of the corpus uteri|uterine corpus carcinosarcoma|malignant mixed Müllerian tumor of the corpus uteri|carcinosarcoma of the uterine corpus|uterine mixed Mullerian sarcoma|uterine body malignant mixed mesodermal neoplasm|malignant mixed mesodermal neoplasm of uterine corpus|malignant mixed mesodermal tumor of uterus|uterine corpus malignant mixed mesodermal (Müllerian) tumor|mixed Mullerian sarcoma of uterus|uterine body malignant mixed mesodermal tumor|malignant mixed mesodermal tumor of the uterus|malignant mixed mesodermal neoplasm of the uterine corpus|mixed Mullerian sarcoma of the uterus|carcinosarcoma of uterine body|malignant mixed müllerian tumor of corpus uteri|body of uterus carcinosarcoma|uterine corpus malignant mixed Müllerian neoplasm|carcinosarcoma of the uterine body|mixed Müllerian cancer of corpus uteri|uterine corpus malignant mixed Mullerian tumor|malignant mixed mesodermal neoplasm of uterine body|uterine carcinosarcoma|malignant mixed mesodermal tumor of uterine corpus|uterine mixed Müllerian sarcoma|malignant mixed mesodermal neoplasm of the uterine body|malignant mixed mesodermal tumor of the uterine corpus|carcinosarcoma of uterus|uterine corpus malignant mixed mesodermal tumor|uterine corpus malignant mixed mesodermal (Mullerian) tumor|uterine malignant mixed mesodermal tumor|mixed Müllerian sarcoma of uterus|malignant mixed Mullerian tumor of the corpus uteri|corpus uteri malignant mixed mesodermal tumor|mixed Müllerian sarcoma of the uterus|carcinosarcoma of the uterus|uterine body carcinosarcoma|uterine malignant mixed mesodermal neoplasm|uterine corpus malignant mixed mesodermal neoplasm|malignant mixed mesodermal neoplasm of uterus	http://purl.obolibrary.org/obo/MONDO_0016259	An aggressive malignant mixed epithelial and mesenchymal tumor that arises from the uterine corpus. It usually affects elderly postmenopausal women and presents with vaginal bleeding. It is characterized by the presence of a malignant epithelial component that is usually glandular and a sarcomatous component.	ORPHA:213610|NCIT:C9180
MONDO:0016254	rare variants of adenocarcinoma of the corpus uteri	biolink:Disease	mondo	UMLS:CN201043|Orphanet:213574|ICD10:C54.1	ordo_disease|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0016254		UMLS:CN201043|ORPHA:213574
MONDO:0016255	uterine corpus mixed epithelial and mesenchymal neoplasm	biolink:Disease	mondo	NCIT:C40181|Orphanet:213589|ICD10:C54.3|UMLS:C1519858|ICD10:C54.2|ICD10:C54.1|ICD10:C54.0|ICD10:C54.8	ordo_group_of_disorders	body of uterus mixed neoplasm|uterine corpus mixed epithelial and mesenchymal neoplasm|uterine corpus mixed epithelial and mesenchymal tumor|malignant mixed epithelial and mesenchymal tumor of corpus uteri|mixed epithelial and mesenchymal cancer of corpus uteri	http://purl.obolibrary.org/obo/MONDO_0016255	A primary, benign or malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. Representative examples include adenomyoma, adenosarcoma, and carcinosarcoma.	UMLS:C1519858|NCIT:C40181|ORPHA:213589
MONDO:0016256	Hennekam syndrome	biolink:Disease	mondo	DOID:0060366|OMIMPS:235510|ICD10:Q87.8|SCTID:234146006|ICD9:457.1|GARD:0003318|Orphanet:2136|UMLS:C0340834	ordo_malformation_syndrome	lymphedema-lymphangiectasia-intellectual disability syndrome|Hennekam lymphangiectasia-lymphedema syndrome|lymphedem-lymphangiectasia-intellectual disability syndrome|lymphangiectasies and lymphedema Hennekam type|Hennekam lymphangiectasia lymphedema syndrome|intestinal lymphagiectasia lymphedema intellectual deficit syndrome	http://purl.obolibrary.org/obo/MONDO_0016256	Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.	DOID:0060366|UMLS:C0340834|SNOMEDCT:234146006|ORPHA:2136
HGNC:14124	NPRL3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14124		
MONDO:0016257	obsolete adenosarcoma of the corpus uteri	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016257		
OBO:mondo#ABBREVIATION	abbreviation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/mondo#ABBREVIATION		
MONDO:0016250	obsolete rare adenocarcinoma of the breast	biolink:Disease	mondo	Orphanet:213528|GARD:0012773	obsoletion_candidate|gard_rare|ordo_disease	rare breast adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0016250	Any of the forms of breast adenocarcinoma that have a rare incidence.	ORPHA:213528
ECTO:9001982	anti-inflammatory agent exposure	biolink:OntologyClass	mondo			exposure to anti-inflammatory agent	http://purl.obolibrary.org/obo/ECTO_9001982	An exposure to anti-inflammatory agent.	
MONDO:0016251	salivary gland type cancer of the breast	biolink:Disease	mondo	ICD10:C50.6|ICD10:C50.8|ICD10:C50.3|ICD10:C50.5|ICD10:C50.2|ICD10:C50.4|SCTID:716593008|ICD10:C50.1|ICD10:C50.0|Orphanet:213557|GARD:0012774	ordo_disease|gard_rare	salivary gland type carcinoma of the breast	http://purl.obolibrary.org/obo/MONDO_0016251	Salivary gland type cancer of the breast describes a group of uncommon neoplasms, usually seen in the salivary glands but occurring in the breast, with a variable clinicopathologic spectrum and divided into those with myoepithelial differentiation and those without. This group includes mammary adenoid cystic carcinoma, adenoid cystic carcinoma, mucoepidermoid carcinoma, acinic cell carcinoma, polymorphous low-grade adenocarcinoma and oncocytic carcinoma.	SNOMEDCT:716593008|ORPHA:213557
MONDO:0016252	obsolete rare uterine cancer	biolink:Disease	mondo	Orphanet:213564	obsoletion_candidate|ordo_group_of_disorders	rare uterine malignant tumor|rare malignant tumor of uterus|rare uterine cancer|rare cancer of uterus	http://purl.obolibrary.org/obo/MONDO_0016252	Rare uterine cancer.	ORPHA:213564
HGNC:16783	CDC73	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16783		
MONDO:0016253	obsolete rare cancer of corpus uteri	biolink:Disease	mondo	Orphanet:213569	obsoletion_candidate|ordo_group_of_disorders	rare malignant tumor of corpus uteri	http://purl.obolibrary.org/obo/MONDO_0016253		ORPHA:213569
MONDO:0028226	autosomal recessive severe congenital neutropenia	biolink:Disease	mondo	Orphanet:439849	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0028226		ORPHA:439849
MONDO:0004258	female orgasmic disorder	biolink:Disease	mondo	ICD9:302.73|ICD10:F52.31|SCTID:60103007|NCIT:C34958|DOID:7518		female orgasmic disorder|inhibited female orgasm	http://purl.obolibrary.org/obo/MONDO_0004258	A sexual disorder in which a woman fails to achieve orgasm during sexual intercourse.	NCIT:C34958|SNOMEDCT:60103007|DOID:7518
MONDO:0004257	childhood central nervous system mixed germ cell tumor	biolink:Disease	mondo	DOID:7516|UMLS:C1332956|NCIT:C27403		pediatric mixed germ cell tumor of central nervous system|pediatric mixed germ cell tumor of central nervous system|childhood mixed germ cell tumor of central nervous system|mixed germ cell tumor of central nervous system of childhood|Central nervous system Mixed germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0004257	A mixed germ cell tumor that arises from the central nervous system and occurs during childhood.	UMLS:C1332956|NCIT:C27403|DOID:7516
MONDO:0004259	endocervical carcinoma	biolink:Disease	mondo	NCIT:C28327|SCTID:372098004|UMLS:C1299237|DOID:7519		carcinoma of endocervix|endocervix carcinoma|carcinoma of the endocervix|endocervical adenocarcinoma|endocervical cancer|endocervical carcinoma	http://purl.obolibrary.org/obo/MONDO_0004259	A carcinoma that arises from epithelial cells of the endocervix.	NCIT:C28327|SNOMEDCT:372098004|UMLS:C1299237|DOID:7519
MONDO:0004254	focal intraductal papillomatosis	biolink:Disease	mondo	NCIT:C7365|DOID:7512|UMLS:C1333626		localized intraductal papillomatosis|focal intraductal papillomatosis	http://purl.obolibrary.org/obo/MONDO_0004254		NCIT:C7365|DOID:7512|UMLS:C1333626
MONDO:0004253	intraductal breast papillomatosis	biolink:Disease	mondo	DOID:7511|NCIT:C5201|UMLS:C1334247		intraductal papillomatosis of breast|breast intraductal papillomatosis|intraductal papillomatosis of the breast|intraductal breast papillomatosis	http://purl.obolibrary.org/obo/MONDO_0004253	A benign breast neoplasm characterized by the proliferation of multiple papillomas within the lumen of the ducts.	NCIT:C5201|UMLS:C1334247|DOID:7511
MONDO:0004256	lumbar spinal canal and spinal cord meningioma	biolink:Disease	mondo	UMLS:C1334436|DOID:7515|NCIT:C5298		meningioma of the lumbar spinal canal and spinal cord|meningioma of lumbar spinal canal and spinal cord|lumbar intraspinal meningioma	http://purl.obolibrary.org/obo/MONDO_0004256	A meningioma that arises from the meninges of the lumbar region of the spinal cord.	NCIT:C5298|UMLS:C1334436|DOID:7515
MONDO:0004255	Wolffian adnexal tumor	biolink:Disease	mondo	MESH:C536741|GARD:0008680|DOID:7514|UMLS:C1520159|NCIT:C40141		FATWO|Wolffian adenoma|WAT|Wolffian tumor|Wolffian adnexal neoplasm|female adnexal tumor of probable Wolffian origin|Wolffian adnexal tumor	http://purl.obolibrary.org/obo/MONDO_0004255	A benign or malignant epithelial neoplasm of probable Wolffian origin. It predominantly arises from the broad ligament and presents as a unilateral adnexal mass.	MESH:C536741|UMLS:C1520159|DOID:7514|NCIT:C40141
MONDO:0004250	extrahepatic bile duct papillary adenoma	biolink:Disease	mondo	NCIT:C5849|DOID:7503|UMLS:C1333510		extrahepatic bile duct papillary adenoma|papillary adenoma of the extrahepatic bile duct|papillary adenoma of extrahepatic bile duct	http://purl.obolibrary.org/obo/MONDO_0004250	An adenoma that arises from the extrahepatic bile ducts. It is characterized by the presence of a papillary growth pattern.	NCIT:C5849|DOID:7503|UMLS:C1333510
MONDO:0004252	small intestinal L-cell glucagon-like peptide producing tumor	biolink:Disease	mondo	NCIT:C27452|UMLS:C3274143|DOID:7506		small intestinal L-cell glucagon-like peptide-producing neuroendocrine tumor|small intestine L-cell glucagon-like peptide-producing neuroendocrine tumor|small intestinal L-cell glucagon-like peptide-producing NET|small intestinal L-cell, glucagon-like peptide-producing neuroendocrine tumor|L-cell glucagon-like peptide-producing neuroendocrine tumor of small intestine	http://purl.obolibrary.org/obo/MONDO_0004252	A neuroendocrine tumor that arises from the small intestine and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns.	NCIT:C27452|UMLS:C3274143|DOID:7506
MONDO:0004251	small intestine neoplasm	biolink:Disease	mondo	UMLS:C0345832|NCIT:C4432|SCTID:126832004|DOID:7505		neoplasm of the small intestine|tumor of the small bowel|tumor of small intestine|tumor of small bowel|small bowel neoplasm|tumor of the small intestine|neoplasm of small intestine|neoplasm of the small bowel|neoplasm of small bowel|small intestine tumor|small intestinal neoplasm|small bowel tumor|small intestine neoplasm|small intestine neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0004251	A benign or malignant neoplasm that affects the small intestine. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma.	NCIT:C4432|DOID:7505|UMLS:C0345832|SNOMEDCT:126832004
MONDO:0016247		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016247		
MONDO:0016248	familial ovarian cancer	biolink:Disease	mondo	ICD10:C56|UMLS:CN201036|Orphanet:213517	ordo_group_of_disorders	hereditary ovarian cancer|familial ovarian malignant tumor	http://purl.obolibrary.org/obo/MONDO_0016248	An instance of ovarian cancer that is caused by an inherited modification of the individual's genome.	ORPHA:213517|UMLS:CN201036
MONDO:0016249	hereditary site-specific ovarian cancer syndrome	biolink:Disease	mondo	UMLS:CN201037|Orphanet:213524|ICD10:C56	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016249	Hereditary site-specific ovarian cancer syndrome refers to ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients.	ORPHA:213524|UMLS:CN201037
MONDO:0016243	hemoglobin E disease	biolink:Disease	mondo	SCTID:25065001|DOID:5379|GARD:0002641|UMLS:C0238159|Orphanet:2133|MedDRA:10053215|ICD9:282.7|NCIT:C35287|ICD10:D58.2	ordo_disease|gard_rare	Hb-E disease|hemoglobin E disease	http://purl.obolibrary.org/obo/MONDO_0016243	Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation.	SNOMEDCT:25065001|UMLS:C0238159|MEDDRA:10053215|ORPHA:2133|NCIT:C35287|DOID:5379
MONDO:0016244	atypical hemolytic-uremic syndrome	biolink:Disease	mondo	UMLS:C2931788|Orphanet:2134|MESH:D065766|GARD:0008702|ICD10:D58.8|GARD:0006240|NCIT:C123223|DOID:0080301	ordo_disease|gard_rare	atypical HUS|aHUS|D-HUS|atypical hemolytic uremic syndrome|hemolytic-uremic syndrome without diarrhea|non-diarrhea-associated hemolytic uremic syndrome|HUS, atypical|D-minus hemolytic uremic syndrome (D-HUS)	http://purl.obolibrary.org/obo/MONDO_0016244	Atypical hemolytic-uremic syndrome (aHUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction.	MESH:D065766|UMLS:C2931788|NCIT:C123223|ORPHA:2134|MESH:C538266|DOID:0080301
HP:0005541	Congenital agranulocytosis	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:89655007|MSH:C537592|UMLS:C1853118			http://purl.obolibrary.org/obo/HP_0005541	Congenital onset of a marked decrease in the number of granulocytes.	
MONDO:0016245	obsolete ovarian cancer	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016245		
MONDO:0016246	obsolete adenocarcinoma of ovary	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016246		
MONDO:0016240	hemimelia	biolink:Disease	mondo	ICD10:Q72.8|SCTID:33076008|ICD10:Q71.8|UMLS:C0018987|MedDRA:10019464|Orphanet:2130|NCIT:C34674|ICD10:Q73.8	ordo_group_of_disorders	longitudinal meromelia	http://purl.obolibrary.org/obo/MONDO_0016240	Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia. Hemimelia ranges in severity.	SNOMEDCT:33076008|UMLS:C0018987|ORPHA:2130|MEDDRA:10019464|NCIT:C34674
MONDO:0016241	alternating hemiplegia of childhood	biolink:Disease	mondo	SCTID:230466004|NCIT:C35261|GARD:0000011|Orphanet:2131|OMIMPS:104290|UMLS:C0338488|MESH:C536589|ICD10:G98|DOID:0050635	ordo_disease|gard_rare	congenital adrenal Hypoplasia|congenital adrenal gland hypoplasia|AHC|adrenal hypoplasia congenita|alternating hemiplegia of childhood|pediatric alternating hemiplegia|pediatric alternating hemiplegia|alternating hemiplegia syndrome|alternating hemiplegia|childhood alternating hemiplegia	http://purl.obolibrary.org/obo/MONDO_0016241	Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.	DOID:0050635|MESH:C536589|UMLS:C0338488|SNOMEDCT:230466004|ORPHA:2131|NCIT:C35261
MONDO:0016242	hemoglobin C disease	biolink:Disease	mondo	MedDRA:10018883|GARD:0002640|ICD10:D58.2|Orphanet:2132|UMLS:C0019021|DOID:2859|SCTID:51053007|ICD9:282.7|MESH:C531699|NCIT:C34675|MESH:D006445	ordo_disease|gard_rare	Hb-C disease|Hb C disease	http://purl.obolibrary.org/obo/MONDO_0016242	Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia).	NCIT:C34675|MEDDRA:10018883|UMLS:C0019021|MESH:D006445|DOID:2859|SNOMEDCT:51053007|MESH:C531699|ORPHA:2132
MONDO:0004269	breast cystic hypersecretory carcinoma	biolink:Disease	mondo	DOID:7537		cystic hypersecretory duct carcinoma of the breast|cystic hypersecretory carcinoma of the breast	http://purl.obolibrary.org/obo/MONDO_0004269		DOID:7537
MONDO:0004268	subareolar duct papillomatosis	biolink:Disease	mondo	DOID:7533		subareolar duct papillomatosis	http://purl.obolibrary.org/obo/MONDO_0004268		DOID:7533|NCIT:C9008
MONDO:0004265	acute endometritis	biolink:Disease	mondo	SCTID:67667007|ICD9:615.0|UMLS:C0238103|NCIT:C27022|DOID:7528		endometritis, acute	http://purl.obolibrary.org/obo/MONDO_0004265	An acute, usually bacterial infection affecting the endometrium. It is characterized by the presence of neutrophils or microabscesses in the endometrial glands. Symptoms include fever, lower abdominal pain, and vaginal discharge.	NCIT:C27022|SNOMEDCT:67667007|UMLS:C0238103|DOID:7528
HGNC:28741	ILDR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28741		
MONDO:0004264	acute gonococcal endometritis	biolink:Disease	mondo	ICD9:098.16|UMLS:C0153196|COHD:200040|DOID:7527|UMLS:C0341829|SCTID:65295003		uterus - acute gonorrhoea|gonococcal endometritis|gonococcal endometritis (acute)|acute gonorrhea of uterus	http://purl.obolibrary.org/obo/MONDO_0004264		UMLS:C0341829|UMLS:C0153196|DOID:7527|SNOMEDCT:65295003
MONDO:0004267	squamous papillomatosis	biolink:Disease	mondo	DOID:7532|UMLS:C1378340|NCIT:C9009|ICDO:8060/0		squamous papillomatosis	http://purl.obolibrary.org/obo/MONDO_0004267	A benign squamous neoplasm characterized by a papillary growth pattern, diffusely involving a specific anatomic site.	UMLS:C1378340|DOID:7532|NCIT:C9009
MONDO:0004266	anal gland adenocarcinoma	biolink:Disease	mondo	NCIT:C5609|DOID:7531|UMLS:C1266027|ICDO:8215/3|ONCOTREE:AGA		adenocarcinoma of anal ducts|adenocarcinoma of the anal gland|anal glands adenocarcinoma|adenocarcinoma of anal gland	http://purl.obolibrary.org/obo/MONDO_0004266	An anal adenocarcinoma arising from the epithelium of the anal glands. The overlying anal mucosa does not show evidence of neoplastic changes.	NCIT:C5609|DOID:7531|UMLS:C1266027
MONDO:0004261	periductal breast myoepitheliosis	biolink:Disease	mondo	DOID:7520|UMLS:C1518974|NCIT:C40388		periductal breast myoepitheliosis	http://purl.obolibrary.org/obo/MONDO_0004261	A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells around small breast ducts.	UMLS:C1518974|DOID:7520|NCIT:C40388
MONDO:0004260	peptic ulcer perforation	biolink:Disease	mondo	MESH:D010439|DOID:752|UMLS:C0267291|EFO:1001389|UMLS:C0030925|SCTID:79118000		acute peptic ulcer with perforation|peptic ulcer with perforation|perforated peptic ulcer	http://purl.obolibrary.org/obo/MONDO_0004260	Penetration of a peptic ulcer through the wall of duodenum or stomach allowing the leakage of luminal contents into the peritoneal cavity.	MESH:D010439|SNOMEDCT:79118000|UMLS:C0267291|DOID:752|UMLS:C0030925
MONDO:0004263	pediatric infratentorial ependymoblastoma	biolink:Disease	mondo	DOID:7522|UMLS:C1332972|NCIT:C6773		pediatric infratentorial ependymoblastoma|childhood infratentorial embryonal tumor with Multilayered Rosettes, C19MC-altered|childhood infratentorial ependymoblastoma	http://purl.obolibrary.org/obo/MONDO_0004263	An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children.	NCIT:C6773|DOID:7522|UMLS:C1332972
MONDO:0004262	breast myoepitheliosis	biolink:Disease	mondo	UMLS:C1513799|NCIT:C40385|DOID:7521		breast myoepitheliosis	http://purl.obolibrary.org/obo/MONDO_0004262	A multifocal neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within and/or around small breast ducts.	NCIT:C40385|DOID:7521|UMLS:C1513799
HP:0005558	Chronic leukemia	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:128933000|UMLS:C4280478|UMLS:C1279296|SNOMEDCT_US:92812005		Chronic leukaemia|Chronic blood cancer	http://purl.obolibrary.org/obo/HP_0005558	A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia.	
MONDO:0016236	kaposiform hemangioendothelioma	biolink:Disease	mondo	MESH:C537007|NCIT:C27510|SCTID:403983000|UMLS:C1367420|Orphanet:2122|GARD:0003077|ICD10:D18.0	ordo_disease|gard_rare	Kaposiform hemangio-endothelioma|KH|KHE|congenital cutaneous multifocal kaposiform hemangioendothelioma|Kaposiform hemangioendothelioma	http://purl.obolibrary.org/obo/MONDO_0016236	Kaposiform hemangioendothelioma is a very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions.	MESH:C537007|UMLS:C1367420|NCIT:C27510|ORPHA:2122|SNOMEDCT:403983000
MONDO:0018899	posterior cortical atrophy	biolink:Disease	mondo	Orphanet:54247|ICD10:G31.1|SCTID:715574002|UMLS:CN205270	ordo_disease	biparietal Alzheimer disease|PCA|Benson syndrome	http://purl.obolibrary.org/obo/MONDO_0018899	Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities.	SNOMEDCT:715574002|ORPHA:54247|UMLS:CN205270
MONDO:0018898	primary cutaneous lymphoma	biolink:Disease	mondo	UMLS:C1302772|NCIT:C7162|Orphanet:542|SCTID:400001003|MedDRA:10051708	ordo_group_of_disorders	cutaneous (skin) lymphoma|primary cutaneous lymphoma|primary skin lymphoma	http://purl.obolibrary.org/obo/MONDO_0018898	Cutaneous lymphoma is a heterogeneous entity with respect to its clinical and pathological features, evolutive profile, prognosis, molecular aetiology and response to therapy. These specifications have been taken into account in recent classifications, which have placed particular importance on the prognostic implications of these different entities.	ORPHA:542|UMLS:C1302772|NCIT:C7162|UMLS:C1276146|MEDDRA:10051708|SNOMEDCT:400001003
MONDO:0016237	diffuse neonatal hemangiomatosis	biolink:Disease	mondo	SCTID:254782003|GARD:0001861|Orphanet:2123|ICD10:Q82.8|UMLS:C0474965	gard_rare|ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0016237	Diffuse neonatal hemangiomatosis is a rare vascular tumor from unknown origin characterized by multiple, progressive, rapidly growing cutaneous hemangiomas (e.g. in the scalp, face, trunk and extremities) associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges.	SNOMEDCT:254782003|UMLS:C0474965|ORPHA:2123
MONDO:0016238	solitary fibrous tumor	biolink:Disease	mondo	ICDO:8815/1|UMLS:C1266119|MESH:D054364|ICDO:8815/0|ICDO:9051/0|ICD10:D21.9|Orphanet:2126|ONCOTREE:SFT|ICD9:238.1|MedDRA:10018825|NCIT:C7634	ordo_disease	SFT|solitary fibrous tumor|submesothelial fibroma|localized fibrous tumor|localized fibrous mesothelioma|hemangiopericytoma|solitary fibrous tumor/hemangiopericytoma	http://purl.obolibrary.org/obo/MONDO_0016238	Solitary fibrous tumor (SFT) represents a diverse group of ubiquitous rare spindle cell neoplasms that may be benign or malignant and that most frequently arises from the pleura and peritoneum and rarely from other sites such as head and neck, liver and skeletal muscle. SFT may be clinically asymptomatic or may present with enlarging mass, compressive effects depending on the site involved and rarely with paraneoplastic manifestations (osteoarthropathy or hypoglycemia).	UMLS:C1266119|MESH:D054364|MEDDRA:10018825|NCIT:C7634|MESH:D006393|UMLS:C0018922|ORPHA:2126
MONDO:0016239	cystinosis	biolink:Disease	mondo	Orphanet:213|MESH:D003554|ICD10:E72.0|UMLS:C0010690|ICD10:E72.04|GARD:0006236|SCTID:190681003|DOID:1064|NCIT:C2976|MedDRA:10011777|UMLS:CN035091	gard_rare|ordo_disease	cystine disease|cystine storage disease|cystine diathesis|Protein defect of cystin transport|Cystinoses	http://purl.obolibrary.org/obo/MONDO_0016239	Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular.	MEDDRA:10011777|ORPHA:213|NCIT:C2976|SNOMEDCT:190681003|DOID:1064|UMLS:C0010690|UMLS:CN035091|MESH:D003554
MONDO:0018895	Plummer-Vinson syndrome	biolink:Disease	mondo	SCTID:80126007|Orphanet:54028|UMLS:C0032249|ICD10:D50.1|GARD:0008259|MedDRA:10040664|MESH:D011004|NCIT:C85016|ICD9:280.8	gard_rare|ordo_disease	Sideropenic dysphagia|Paterson-Brown-Kelly syndrome|Paterson's syndrome|Kelly-Paterson syndrome|Plummer Vinson syndrome|dysphagia sideropenica|Paterson-Kelly syndrome|Kelly's syndrome|Paterson’s syndrome	http://purl.obolibrary.org/obo/MONDO_0018895	Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs.	MESH:D011004|ORPHA:54028|NCIT:C85016|SNOMEDCT:80126007|UMLS:C0032249|MEDDRA:10040664
MONDO:0016232	rare venous malformation	biolink:Disease	mondo	ICD10:Q27.8|Orphanet:211252|MedDRA:10025532	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0016232		UMLS:C0265950|ORPHA:211252|MEDDRA:10025532
HGNC:16762	ZNF423	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16762		
MONDO:0016233	rare lymphatic system malformation	biolink:Disease	mondo	Orphanet:211255|UMLS:CN200997	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016233		UMLS:CN200997|ORPHA:211255
MONDO:0018894	distal hereditary motor neuropathy	biolink:Disease	mondo	GARD:0012683|SCTID:230247001|Orphanet:53739	ordo_group_of_disorders|gard_rare	distal spinal muscular atrophy|dHMN|dSMA	http://purl.obolibrary.org/obo/MONDO_0018894		ORPHA:53739|UMLS:C0393541|SNOMEDCT:230247001
MONDO:0016234	obsolete rare arteriovenous malformation	biolink:Disease	mondo	Orphanet:211266|UMLS:CN226888	obsoletion_candidate|ordo_group_of_disorders	rare arteriovenous hemangioma/malformation|rare arteriovenous malformation	http://purl.obolibrary.org/obo/MONDO_0016234	Rare arteriovenous malformation.	UMLS:CN226888|ORPHA:211266
MONDO:0018897	primary cutaneous CD30+ T-cell lymphoproliferative disease	biolink:Disease	mondo	UMLS:CN205268|Orphanet:541|MedDRA:10065863|ICD10:C86.6	ordo_group_of_disorders	primary cutaneous Ki-1+ T-cell lymphoproliferative disease	http://purl.obolibrary.org/obo/MONDO_0018897		MEDDRA:10065863|ORPHA:541|UMLS:C1698767|UMLS:CN205268
MONDO:0018896	thrombotic thrombocytopenic purpura	biolink:Disease	mondo	COHD:4301602|ICD10:M31.1|UMLS:C0034155|MedDRA:10043648|Orphanet:54057|DOID:10772|SCTID:78129009|NCIT:C78797|MESH:D011697	ordo_disease	Moschcowitz's syndrome|TTP|Moschcowitz disease|Moschowitz disease	http://purl.obolibrary.org/obo/MONDO_0018896	Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP.	ORPHA:54057|MESH:D011697|UMLS:C0034155|SNOMEDCT:78129009|MEDDRA:10043648|DOID:10772|NCIT:C78797
MONDO:0016235	complex vascular malformation with associated anomalies	biolink:Disease	mondo	Orphanet:211277	ordo_group_of_disorders	hemangiolymphangioma	http://purl.obolibrary.org/obo/MONDO_0016235		ORPHA:211277
HGNC:14103	ARHGEF10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14103		
MONDO:0018891	familial tumoral calcinosis	biolink:Disease	mondo	ICD10:M11.2|MedDRA:10059364|GARD:0010877|Orphanet:53715|DC:0000445	ordo_disease|gard_rare		http://purl.obolibrary.org/obo/MONDO_0018891	Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis.	UMLS:C0263628|ORPHA:53715|MEDDRA:10059364
MONDO:0018890	Lyell syndrome	biolink:Disease	mondo	UMLS:CN205258|Orphanet:537|ICD10:L51.2	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0018890	Lyell syndrome is an extended form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving more than 30% of the body surface area.	UMLS:CN205258|ORPHA:537
MONDO:0018893	Cobb syndrome	biolink:Disease	mondo	NCIT:C4485|SCTID:254774003|Orphanet:53721|GARD:0011892|ICD9:239.2|UMLS:C0346068|MedDRA:10068841|ICD10:Q27.3	ordo_malformation_syndrome|gard_rare	spinal arteriovenous metameric syndrome|Cobb's syndrome|cutaneomeningospinal angiomatosis|SAMS 1-31	http://purl.obolibrary.org/obo/MONDO_0018893	Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve one or many of the 31 metameres present in humans. Only 16% of the medullary lesions are multiple and have a clearly metameric distribution.	ORPHA:53721|NCIT:C4485|UMLS:C0346068|MEDDRA:10068841|SNOMEDCT:254774003
MONDO:0016230	simple vascular malformation	biolink:Disease	mondo	Orphanet:211243	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016230		ORPHA:211243
MONDO:0018892	Wyburn-Mason syndrome	biolink:Disease	mondo	MESH:C536752|MedDRA:10048661|SCTID:6729006|Orphanet:53719|UMLS:C0265321|ICD10:Q28.2|GARD:0007900	ordo_malformation_syndrome	Wyburn Mason's syndrome|bonnet-Decaume-Blanc syndrome|Wyburn Mason syndrome|arteriovenous aneurysm of mid-brain and retina, facial nevi and mental changes|Cerebrofacial arteriovenous metameric syndrome type 2|CAMS2|bonnet-Dechaume-Blanc syndrome	http://purl.obolibrary.org/obo/MONDO_0018892	Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome is characterized by the association of arteriovenous malformations of the maxilla, retina, optic nerve, thalamus, hypothalamus and cerebral cortex.	MESH:C536752|ORPHA:53719|SNOMEDCT:6729006|MEDDRA:10048661|UMLS:C0265321
MONDO:0016231	capillary malformation	biolink:Disease	mondo	Orphanet:211247|SCTID:234118009	ordo_group_of_disorders	rare capillary malformation|congenital malformation of capillary	http://purl.obolibrary.org/obo/MONDO_0016231		ORPHA:211247|UMLS:C0340803|SNOMEDCT:234118009
MONDO:0006815	jejunal cancer	biolink:Disease	mondo	ICD10:C17.1|ICD9:152.1|SCTID:363404008|UMLS:C0153427|EFO:1000998|MedDRA:10023166|DOID:13499		malignant neoplasm of jejunum|malignant jejunum neoplasm|cancer of jejunum|malignant tumor of jejunum|jejunum cancer	http://purl.obolibrary.org/obo/MONDO_0006815	A malignant neoplasm involving the jejunum.	DOID:13499|SNOMEDCT:363404008|UMLS:C0153427
MONDO:0006816	arthropathy	biolink:Disease	mondo	ICD9:716.90|ICD10:M12.9|MedDRA:10003285|ICD10:M15.M19|ICD9:716.80|MESH:D007592|DOID:381|ICD9:719.90|COHD:73553|ICD9:719.80|SCTID:399269003|NCIT:C35760|ICD10:M19.90|ICD9:719.9|ICD9:716.88|EFO:1000999|ICD10:M00-M02|ICD9:716.98|UMLS:C0022408|ICD9:719.89|ICD9:711|ICD9:716.9|ICD9:719.88|ICD10:M25.9|ICD9:719.98		Joint ankylosis of the shoulder region|Joint ankylosis of the ankle and/or foot|skeletal joint disease|joint disorder|disorder, Joint|ankylosis of forearm joint|Joint disorder|ankylosis of ankle and foot joint|joint disease|Joint ankylosis of the ankle and foot|ankylosis of hand joint|ankylosis of multiple joints|ankylosis of lower leg joint|ankylosis of upper arm joint|Joint ankylosis of the hand|ankylosis of joint of forearm|Joint ankylosis of the forearm|arthropathy|ankylosis of joint of lower leg|Joint ankylosis of the lower leg|disorder of joint|Joint ankylosis of the upper arm|ankylosis of joint of upper arm|ankylosis of joint of pelvic region and thigh|infectious arthropathy|skeletal joint disease or disorder|disorder of skeletal joint|ankylosis of joint of ankle and/or foot|ankylosis of joint of shoulder region|ankylosis of joint of multiple sites|arthrosis|Joint ankylosis of the pelvic region and thigh|disease of skeletal joint|disorder of skeletal joint|disease or disorder of skeletal joint|ankylosis of joint of hand	http://purl.obolibrary.org/obo/MONDO_0006816	Any disorder of the joints.	DOID:381|NCIT:C35760|SNOMEDCT:399269003|MESH:D007592|UMLS:C0022408
MONDO:0006813	intradermal nevus	biolink:Disease	mondo	MedDRA:10058537|ICDO:8750/0|SCTID:302838006|NCIT:C3804|EFO:1000995|MESH:D018330|UMLS:C0206737		dermal Nevus	http://purl.obolibrary.org/obo/MONDO_0006813	A nevus characterized by the proliferation of nevus cells in the dermis without involvement of the dermal-epidermal junction.	UMLS:C0206737|MESH:D018330|SNOMEDCT:302838006|NCIT:C3804
MONDO:0006814	iritis (disease)	biolink:Disease	mondo	NCIT:C50621|MedDRA:10022955|SCTID:65074000|HP:0001101|EFO:1000997|MESH:D007500|UMLS:C0022081|DOID:1406		inflammation of iris|iris inflammation|iritis	http://purl.obolibrary.org/obo/MONDO_0006814	Inflammation of the iris.	NCIT:C50621|MESH:D007500|UMLS:C0022081|DOID:1406|SNOMEDCT:65074000
MONDO:0006811	intracranial hypotension	biolink:Disease	mondo	MedDRA:10049977|SCTID:433691000124104|ICD9:349.89|UMLS:C0524812|DOID:4723|EFO:1000993|MESH:D019585			http://purl.obolibrary.org/obo/MONDO_0006811	Reduction of cerebrospinal fluid pressure characterized clinically by headache which is maximal in an upright posture and occasionally by an abducens nerve palsy (see abducens nerve diseases), neck stiffness, hearing loss (see deafness); nausea; and other symptoms. This condition may be spontaneous or secondary to spinal puncture; neurosurgical procedures; dehydration; uremia; trauma (see also craniocerebral trauma); and other processes. Chronic hypotension may be associated with subdural hematomas (see hematoma, subdural) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8)	DOID:4723|UMLS:C0524812|MESH:D019585|SNOMEDCT:433691000124104
HGNC:1856	CENPE	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1856		
MONDO:0006812	intracranial vasospasm	biolink:Disease	mondo	UMLS:C0751895|DOID:13100|MESH:D020301|EFO:1000994			http://purl.obolibrary.org/obo/MONDO_0006812	Constriction of arteries in the skull due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and brain ischemia that may lead to hypoxic-ischemic brain injury (hypoxia-ischemia, brain).	DOID:13100|UMLS:C0751895|MESH:D020301
HGNC:1857	CENPF	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1857		
MONDO:0006810	intracranial hypertension	biolink:Disease	mondo	UMLS:C0151740|DOID:9428|MESH:D019586|MedDRA:10022764|EFO:1000992		raised intracranial pressure	http://purl.obolibrary.org/obo/MONDO_0006810	A finding characterized by increased cerebrospinal fluid pressure within the skull.	MESH:D019586|DOID:9428|NCIT:C84791|UMLS:C0151740
FOODON:03412702	kid (goat)	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03412702	A young goat	
MONDO:0018804	MYO5B-related progressive familial intrahepatic cholestasis	biolink:Disease	mondo	UMLS:CN776887|Orphanet:480491	ordo_clinical_subtype	MYO5B deficiency	http://purl.obolibrary.org/obo/MONDO_0018804		ORPHA:480491|UMLS:CN776887
UBERON:0003693	retroperitoneal space	biolink:AnatomicalEntity	mondo			retroperitoneum|spatium retroperitoneale	http://purl.obolibrary.org/obo/UBERON_0003693	Anatomical space in the abdominal cavity behind (retro) the peritoneum. It has no specific delineating anatomical structures. Organs are retroperitoneal if they only have peritoneum on their anterior side.	
MONDO:0018803		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018803		
UBERON:0003690	fused sacrum	biolink:AnatomicalEntity	mondo			sacrum [sacral vertebrae I-V]|sacral bone|os sacrum [vertebrae sacrales I - V]|sacrum|sacrum [sacral vertebrae I - V]|os sacrum	http://purl.obolibrary.org/obo/UBERON_0003690	A collection of sacral vertebrae in the sacral region that are fused and part of the bony pelvis.	
MONDO:0018806	primary intrahepatic lithiasis	biolink:Disease	mondo	Orphanet:480506	ordo_disease	primary hepatolithiasis|PIHL	http://purl.obolibrary.org/obo/MONDO_0018806		ORPHA:480506
MONDO:0018805	choledochal cyst	biolink:Disease	mondo	SCTID:398197009|DOID:899|MESH:D015529|COHD:4134570|Orphanet:480501|ICD10:Q44.4|ICD9:751.69	ordo_morphological_anomaly	congenital choledochal cyst|congenital cystic dilatation of the biliary tract	http://purl.obolibrary.org/obo/MONDO_0018805	Cystic dilatation of the hepatic duct or bile duct.	NCIT:C2943|DOID:899|ORPHA:480501|SNOMEDCT:398197009|MESH:D015529
UBERON:0003691	epidural space	biolink:AnatomicalEntity	mondo			spatium extradurale|cavum extradurale|spatium epidurale|cavum epidurale|epidural cavity|extradural space	http://purl.obolibrary.org/obo/UBERON_0003691	The outermost part of the spinal canal. It is the space within the canal (formed by the surrounding vertebrae) lying outside the dura mater.	
MONDO:0018800	Kallmann syndrome	biolink:Disease	mondo	GARD:0010771|MESH:D017436|Orphanet:478|ICD9:253.4|DOID:3614|NCIT:C75479|SCTID:93559003|UMLS:C0162809|MedDRA:10053142|ICD10:E23.0	ordo_disease	congenital hypogonadotropic hypogonadism with anosmia|Kallman's syndrome|familial hypogonadism with anosmia|hypogonadism with anosmia|Kallman syndrome|hypogonadotropic hypogonadism with anosmia|Olfacto-genital pathological sequence	http://purl.obolibrary.org/obo/MONDO_0018800	Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).	UMLS:C0162809|ORPHA:478|NCIT:C75479|SNOMEDCT:93559003|DOID:3614|MESH:D017436|MEDDRA:10053142
MONDO:0018802		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018802		
MONDO:0018801	congenital bilateral absence of vas deferens	biolink:Disease	mondo	OMIMPS:277180|SCTID:275416002|ICD10:Q55.4|GARD:0005461|MedDRA:10010670|Orphanet:48|ICD9:752.89	ordo_morphological_anomaly	congenital bilateral aplasia of vas deferens|congenital bilateral agenesis of vas deferens	http://purl.obolibrary.org/obo/MONDO_0018801	Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility.	MEDDRA:10010670|SNOMEDCT:275416002|UMLS:C0403814|MESH:C535984|ORPHA:48
UBERON:0001037	strand of hair	biolink:AnatomicalEntity	mondo			quill|fur|coat hair|coat/ hair|whisker|setulae|vibrissa|microchaeta|hair	http://purl.obolibrary.org/obo/UBERON_0001037	A filament, mostly protein, that grows from follicles found in the dermis[WP].	
HGNC:16732	MCEE	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16732		
MONDO:0006808	intracranial arterial disease	biolink:Disease	mondo	EFO:1000990|UMLS:C0752138|MESH:D020765|DOID:13089			http://purl.obolibrary.org/obo/MONDO_0006808	Pathological conditions involving arteries in the skull, such as arteries supplying the cerebrum, the cerebellum, the brain stem, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes.	MESH:D020765|UMLS:C0752138|DOID:13089
UBERON:0003696	metatarsophalangeal joint	biolink:AnatomicalEntity	mondo			metatarsalphalangeal joint|articulationes metatarsophalangeae|metatarsophalangeal articulation|metatarsal joint|metatarsal-phalangeal joint|metatarsophalangeal	http://purl.obolibrary.org/obo/UBERON_0003696	The metatarsophalangeal articulations are the joints between the metatarsal bones of the foot and the proximal bones of the toes . They are condyloid joints meaning an elliptical or rounded surface (of the metatarsal bones) come close to the shallow cavities (of the proximal phalanges). The ligaments are the plantar and two collateral.	
UBERON:0001033	gustatory system	biolink:AnatomicalEntity	mondo			gustatory organ system|taste system	http://purl.obolibrary.org/obo/UBERON_0001033	The sensory system for the sense of taste.	
UBERON:0003697	abdominal wall	biolink:AnatomicalEntity	mondo			layers of the abdominal wall|paries abdominalis|wall of abdomen proper|wall of abdomen|abdominal wall proper|paries abdominalis	http://purl.obolibrary.org/obo/UBERON_0003697	The tissues that surround the organs that are present within the abdominal cavity. The abdominal wall tissue is composed of layers of fat, parietal peritoneum, fascia, and muscles.	
UBERON:0001032	sensory system	biolink:AnatomicalEntity	mondo			sensory subsystem|sense organ subsystem|sensory organ system|set of sense organs|organa sensuum|sense organs set|sense organs|sensory systems|organa sensuum	http://purl.obolibrary.org/obo/UBERON_0001032	Anatomical system that overlaps the nervous system and is responsible for receiving and processing sensory information.	
MONDO:0006809	intracranial embolism	biolink:Disease	mondo	ICD9:434.10|SCTID:75543006|COHD:375557|ICD9:434.1|EFO:1000991|DOID:4372|ICD10:I66|MESH:D020766		cerebral embolism with cerebral infarction|cerebral embolism	http://purl.obolibrary.org/obo/MONDO_0006809	Blocking of a blood vessel in the skull by an embolus which can be a blood clot (thrombus) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with heart diseases. Other non-cardiac sources of emboli are usually associated with vascular diseases.	MESH:D020766|DOID:4372|SNOMEDCT:75543006
MONDO:0006806	intermediate uveitis (disease)	biolink:Disease	mondo	MedDRA:10022557|SCTID:314429009|Orphanet:279914|ICD10:H30.2|NCIT:C35110|HP:0012124|MESH:D015867|UMLS:C0042166|DOID:12732|EFO:1000986	ordo_disease	IU|chronic cyclitis|peripheral uveoretinitis|intermediate uveitis|pars planitis	http://purl.obolibrary.org/obo/MONDO_0006806	Inflammation of the pars plana.	NCIT:C35110|MESH:D015867|UMLS:C0042166|SNOMEDCT:314429009|MEDDRA:10022557|ORPHA:279914|DOID:12732
MONDO:0006807	intestinal perforation	biolink:Disease	mondo	SCTID:56905009|ICD9:569.83|COHD:193242|NCIT:C39611|ICD9:777.6|UMLS:C0021845|ICD10:P78.0|MedDRA:10022694|EFO:1000987|MESH:D007416|DOID:2074		bowel perforation|perforation of intestine	http://purl.obolibrary.org/obo/MONDO_0006807	A rupture in the wall of the small or large intestine due to traumatic or pathologic processes.	SNOMEDCT:56905009|MESH:D007416|DOID:2074|NCIT:C39611|UMLS:C0021845
UBERON:0003695	metacarpophalangeal joint	biolink:AnatomicalEntity	mondo			MP joint|metacarpal joint|articulationes metacarpophalangeae|carpometacarpophalangeal joint|metacarpal phalangeal joint|metacarpo-phalangeal joint	http://purl.obolibrary.org/obo/UBERON_0003695	The metacarpophalangeal joints (MCP) are of the condyloid kind, formed by the reception of the rounded heads of the metacarpal bones into shallow cavities on the proximal ends of the first phalanges, with the exception of that of the thumb, which presents more of the characters of a ginglymoid joint. Arthritis of the MCP is a distinguishing feature of Rheumatoid Arthritis, as opposed to the distal interphalangeal joint in osteoarthritis. [WP,unvetted].	
MONDO:0006826	kwashiorkor	biolink:Disease	mondo	UMLS:C0022806|MedDRA:10023504|ICD10:E40|COHD:432593|DOID:13579|EFO:1001009|ICD9:260|MESH:D007732|SCTID:58262005		Kwashiokor|nutritional edema with dyspigmentation of skin and hair|nutritional oedema with dyspigmentation of skin and/or hair	http://purl.obolibrary.org/obo/MONDO_0006826	A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning 'displaced child'. Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed)	DOID:13579|MESH:D007732|SNOMEDCT:58262005|UMLS:C0022806
HGNC:28727	APOO	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28727		
MONDO:0006827	lateral medullary syndrome	biolink:Disease	mondo	UMLS:C0043019|EFO:1001011|MedDRA:10024033|ICD9:437.1|ICD10:G46.3|MESH:D014854|NCIT:C84807|SCTID:78569004|DOID:3522|GARD:0009263	gard_rare	Lateral medullary syndrome|PICA syndrome|Wallenberg's syndrome|Posterior inferior cerebellar artery syndrome|Vertebral artery syndrome|Posterior inferior cerebellar artery syndrome|Wallenberg's syndrome|Wallenberg syndrome	http://purl.obolibrary.org/obo/MONDO_0006827	A syndrome caused by an infarct in the vertebral or posterior inferior cerebellar artery. It is characterized by sensory defects affecting the same side of the face as the infarct and the opposite side of the trunk as the infarct. Patients experience difficulty swallowing and/or speaking.	MESH:D014854|DOID:3522|SNOMEDCT:78569004|NCIT:C84807|UMLS:C0043019
GO:1901859	negative regulation of mitochondrial DNA metabolic process	biolink:OntologyClass	mondo			downregulation of mtDNA metabolism|downregulation of mtDNA metabolic process|downregulation of mitochondrial DNA metabolism|down regulation of mtDNA metabolism|inhibition of mtDNA metabolic process|down regulation of mitochondrial DNA metabolism|negative regulation of mtDNA metabolism|down-regulation of mitochondrial DNA metabolic process|down-regulation of mtDNA metabolism|negative regulation of mtDNA metabolic process|negative regulation of mitochondrial DNA metabolism|down-regulation of mtDNA metabolic process|down-regulation of mitochondrial DNA metabolism|down regulation of mitochondrial DNA metabolic process|inhibition of mtDNA metabolism|down regulation of mtDNA metabolic process|inhibition of mitochondrial DNA metabolic process|inhibition of mitochondrial DNA metabolism|downregulation of mitochondrial DNA metabolic process	http://purl.obolibrary.org/obo/GO_1901859	Any process that stops, prevents or reduces the frequency, rate or extent of mitochondrial DNA metabolic process.	
MONDO:0006824	Krebs 2 carcinoma	biolink:Disease	mondo	MESH:D002287|EFO:1001007|UMLS:C0007128			http://purl.obolibrary.org/obo/MONDO_0006824	Carcinoma having known association to krebs2 gene mutation	UMLS:C0007128|MESH:D002287
HGNC:1869	CETP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1869		
MONDO:0006825	kuru	biolink:Disease	mondo	SCTID:86188000|DOID:648|MedDRA:10023497|COHD:444373|EFO:1001008|ICD9:046.0|ICD10:A81.81|MESH:D007729|UMLS:C0022802|ICD10:A81.8|Orphanet:454745|GARD:0007617	gard_rare|ordo_disease	kuru encephalopathy	http://purl.obolibrary.org/obo/MONDO_0006825	A prion disease found exclusively among the Fore linguistic group natives of the highlands of new guinea. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)	DOID:648|MESH:D007729|SNOMEDCT:86188000|UMLS:C0022802|ORPHA:454745
GO:1901857	positive regulation of cellular respiration	biolink:OntologyClass	mondo			up regulation of cellular respiration|up-regulation of oxidative metabolism|up regulation of oxidative metabolic process|up-regulation of respiration|activation of cellular respiration|up-regulation of cellular respiration|positive regulation of oxidative metabolic process|up regulation of respiration|positive regulation of respiration|activation of oxidative metabolism|upregulation of oxidative metabolism|upregulation of oxidative metabolic process|activation of oxidative metabolic process|upregulation of cellular respiration|upregulation of respiration|activation of respiration|positive regulation of oxidative metabolism|up regulation of oxidative metabolism|up-regulation of oxidative metabolic process	http://purl.obolibrary.org/obo/GO_1901857	Any process that activates or increases the frequency, rate or extent of cellular respiration.	
UBERON:0001019	nerve fasciculus	biolink:AnatomicalEntity	mondo			nerve fiber tract|fascicle|nerve fasciculus|neural fasciculus|fasciculus|nerve bundle	http://purl.obolibrary.org/obo/UBERON_0001019	A slender neuron projection bundle[FBbt]; A bundle of anatomical fibers, as of muscle or nerve (American Heritage Dictionary 4th ed).	
MONDO:0006822	obsolete Klatskin's tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006822		
MONDO:0006823	Klinefelter syndrome	biolink:Disease	mondo	COHD:4228490|DOID:1921|ICD10:Q98.4|UMLS:C0022735|MedDRA:10023463|NCIT:C34752|ICD10:Q98.0|MESH:D007713|EFO:1001006|ICD9:758.7|SCTID:405769009		hypogonadotropic hypogonadism|Klinefelter's syndrome, XXY|Klinefelter syndrome|47,XXY syndrome|XXY syndrome|XXY syndrome (Klinefelter syndrome)|XXY trisomy|Klinefelter's syndrome	http://purl.obolibrary.org/obo/MONDO_0006823	A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present.	NCIT:C34752|MESH:D007713|UMLS:C0022735|DOID:1921|SNOMEDCT:405769009
UBERON:0001018	axon tract	biolink:AnatomicalEntity	mondo			nerve tract|tract of neuraxis|tract|neuraxis tract|nerve tract|axonal tract	http://purl.obolibrary.org/obo/UBERON_0001018	A group of axons linking two or more neuropils and having a common origin, termination[FBbt].	
GO:1901858	regulation of mitochondrial DNA metabolic process	biolink:OntologyClass	mondo			regulation of mtDNA metabolism|regulation of mitochondrial DNA metabolism|regulation of mtDNA metabolic process	http://purl.obolibrary.org/obo/GO_1901858	Any process that modulates the frequency, rate or extent of mitochondrial DNA metabolic process.	
MONDO:0006820	kidney cortex necrosis	biolink:Disease	mondo	SCTID:444691002|ICD9:583.6|DOID:2973|COHD:40480627|MedDRA:10023414|MESH:D007673|EFO:1001003|ICD10:N17.1		renal cortical necrosis	http://purl.obolibrary.org/obo/MONDO_0006820	Death of cells in the kidney cortex, a common final result of various renal injuries including hypoxia; ischemia; and drug toxicity.	MESH:D007673|SNOMEDCT:444691002|DOID:2973
GO:1901856	negative regulation of cellular respiration	biolink:OntologyClass	mondo			downregulation of oxidative metabolism|downregulation of respiration|downregulation of cellular respiration|inhibition of oxidative metabolic process|down regulation of oxidative metabolism|inhibition of respiration|down regulation of cellular respiration|down-regulation of oxidative metabolism|down-regulation of oxidative metabolic process|negative regulation of oxidative metabolism|negative regulation of oxidative metabolic process|inhibition of cellular respiration|down-regulation of cellular respiration|down-regulation of respiration|negative regulation of respiration|down regulation of oxidative metabolic process|inhibition of oxidative metabolism|down regulation of respiration|downregulation of oxidative metabolic process	http://purl.obolibrary.org/obo/GO_1901856	Any process that stops, prevents or reduces the frequency, rate or extent of cellular respiration.	
MONDO:0006821	kidney papillary necrosis	biolink:Disease	mondo	MedDRA:10028865|UMLS:C0022667|ICD9:583.7|DOID:2981|COHD:444409|SCTID:90241004|MESH:D007681|EFO:1001004		renal papillitis necrotizing|papillary necrosis|necrotizing renal papillitis	http://purl.obolibrary.org/obo/MONDO_0006821	A complication of kidney diseases characterized by cell death involving kidney papilla in the kidney medulla. Damages to this area may hinder the kidney to concentrate urine resulting in polyuria. Sloughed off necrotic tissue may block kidney pelvis or ureter. Necrosis of multiple renal papillae can lead to kidney failure.	MESH:D007681|SNOMEDCT:90241004|UMLS:C0022667|DOID:2981
CHEBI:22478	amino alcohol	biolink:ChemicalSubstance	mondo			aminoalcohols|aminoalcohol|amino alcohols	http://purl.obolibrary.org/obo/CHEBI_22478	An alcohol containing an amino functional group in addition to the alcohol-defining hydroxy group.	
HGNC:28722	COQ5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28722		
UBERON:0003682	palatal muscle	biolink:AnatomicalEntity	mondo			musculi palati mollis et faucium|palate muscle|palatal muscle|musculi palati mollis et faucium|muscle of palate|palatine muscle	http://purl.obolibrary.org/obo/UBERON_0003682	The muscles of the palate are the glossopalatine, palatoglossus, levator palati(ni), musculus uvulae, palatopharyngeus, and tensor palati(ni).	
UBERON:0001020	nervous system commissure	biolink:AnatomicalEntity	mondo			white matter commissure|commissure of neuraxis|neuraxis commissure|commissure	http://purl.obolibrary.org/obo/UBERON_0001020	Axon tract that crosses the midline of the central nervous system[NIF, modified]. In the context of Drosophila refers to a broad band of axons connecting equivalent neuropils each side of the brain[FBbt].	
GO:0060986	endocrine hormone secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060986	The regulated release of a hormone into the circulatory system.	
UBERON:0003689	sella turcica	biolink:AnatomicalEntity	mondo			Turkey Chair|turkish saddle|suprasellar	http://purl.obolibrary.org/obo/UBERON_0003689	The sella turcica is a saddle-shaped depression in the sphenoid bone at the base of the human skull. [WP,unvetted].	
HGNC:1875	CFL2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1875		
UBERON:0001028	diaphysis of radius	biolink:AnatomicalEntity	mondo			shaft of radius|body of radius|corpus radii|radial diaphysis|shaft of radius|radial shaft	http://purl.obolibrary.org/obo/UBERON_0001028	A diaphysis that is part of a radius bone[Automatically generated definition].	
UBERON:0003687	foramen magnum	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0003687	In anatomy, in the occipital bone, the foramen magnum is one of the several oval or circular apertures in the base of the skull, through which the medulla oblongata (an extension of the spinal cord) enters and exits the skull vault. Apart from the transmission of the medulla oblongata and its membranes, the foramen magnum transmits the Spinal Accessory nerve, vertebral arteries, the anterior and posterior spinal arteries, the membrana tectoria and alar ligaments. [WP,unvetted].	
UBERON:0001027	sensory nerve	biolink:AnatomicalEntity	mondo			afferent nerve|nervus sensorius	http://purl.obolibrary.org/obo/UBERON_0001027	A nerve that transmits from sensory receptors on the surface of the body to the central nervous system.	
UBERON:0003688	omentum	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0003688	A fold of peritoneum originating at the stomach and supporting the viscera.	
MONDO:0006819	kernicterus	biolink:Disease	mondo	EFO:1001002|MESH:D007647|MedDRA:10023376|ICD10:P57.9|DOID:2382|ICD10:P57|NCIT:C84799		bilirubin encephalopathy	http://purl.obolibrary.org/obo/MONDO_0006819	A rare neurologic disorder occurring in infants with jaundice. It results from brain damage by existing high levels of unconjugated-indirect bilirubin.	MESH:D007647|DOID:2382|NCIT:C84799
UBERON:0003685	cranial suture	biolink:AnatomicalEntity	mondo			suture|sutura|suture of cranium|suture joint of skull|cranium suture	http://purl.obolibrary.org/obo/UBERON_0003685	Fibrous joint in which the articulating bones or cartilages of the skull are connected by sutural ligaments (scant amount of collagenous dense connective tissue). Examples: sagittal suture, frontal suture.	
UBERON:0001021	nerve	biolink:AnatomicalEntity	mondo			nerves|neural subtree|peripheral nerve	http://purl.obolibrary.org/obo/UBERON_0001021	An enclosed, cable-like bundle of axons in the peripheral nervous system originating in a nerve root in the central nervous system (or a condensed nervous structure) connecting with peripheral structures.	
MONDO:0006817	juxtacortical osteosarcoma	biolink:Disease	mondo	ONCOTREE:PAOS|ICDO:9192/3|EFO:1001000|DOID:3373|MESH:D018217|NCIT:C8969|UMLS:C0206642		juxtacortical osteosarcoma|parosteal osteogenic sarcoma|PAOS|juxtacortical osteogenic sarcoma|parosteal osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0006817	A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. Most patients are young adults and the prognosis is usually excellent.	UMLS:C0206642|DOID:3373|NCIT:C8969|MESH:D018217
MONDO:0006818	obsolete keratoconjunctivitis sicca	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006818		
UBERON:0003684	abdominal cavity	biolink:AnatomicalEntity	mondo			cavity of compartment of abdomen|cavity of abdominal compartment|space of abdominal compartment|cavitas abdominis	http://purl.obolibrary.org/obo/UBERON_0003684	The part of the ventral body cavity that is within the abdomen proper (excluding the pelvic cavity).	
UBERON:0001008	renal system	biolink:AnatomicalEntity	mondo			systema urinarium|renal/urinary system|excretory system|urinary tract|systema urinaria|renal system|urinary system|renal or urinary system	http://purl.obolibrary.org/obo/UBERON_0001008	The renal system in an anatomical system that maintains fluid balance and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products..	
UBERON:0001007	digestive system	biolink:AnatomicalEntity	mondo			gut|alimentary system|gastrointestinal system|alimentary tract	http://purl.obolibrary.org/obo/UBERON_0001007	Anatomical system that has as its parts the organs devoted to the ingestion, digestion, and assimilation of food and the discharge of residual wastes.	
UBERON:0001009	circulatory system	biolink:AnatomicalEntity	mondo			systema cardiovasculare	http://purl.obolibrary.org/obo/UBERON_0001009	organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis[WP].	
GO:1901862	negative regulation of muscle tissue development	biolink:OntologyClass	mondo			downregulation of muscle tissue development|down-regulation of muscle tissue development|down regulation of muscle tissue development|inhibition of muscle tissue development	http://purl.obolibrary.org/obo/GO_1901862	Any process that stops, prevents or reduces the frequency, rate or extent of muscle tissue development.	
GO:1901863	positive regulation of muscle tissue development	biolink:OntologyClass	mondo			up-regulation of muscle tissue development|up regulation of muscle tissue development|activation of muscle tissue development|upregulation of muscle tissue development	http://purl.obolibrary.org/obo/GO_1901863	Any process that activates or increases the frequency, rate or extent of muscle tissue development.	
GO:1901860	positive regulation of mitochondrial DNA metabolic process	biolink:OntologyClass	mondo			positive regulation of mtDNA metabolic process|activation of mtDNA metabolism|upregulation of mtDNA metabolism|upregulation of mitochondrial DNA metabolic process|activation of mitochondrial DNA metabolism|upregulation of mtDNA metabolic process|upregulation of mitochondrial DNA metabolism|activation of mtDNA metabolic process|positive regulation of mtDNA metabolism|up regulation of mtDNA metabolism|positive regulation of mitochondrial DNA metabolism|up-regulation of mitochondrial DNA metabolic process|up regulation of mitochondrial DNA metabolism|up-regulation of mtDNA metabolism|up-regulation of mtDNA metabolic process|up regulation of mitochondrial DNA metabolic process|activation of mitochondrial DNA metabolic process|up-regulation of mitochondrial DNA metabolism|up regulation of mtDNA metabolic process	http://purl.obolibrary.org/obo/GO_1901860	Any process that activates or increases the frequency, rate or extent of mitochondrial DNA metabolic process.	
GO:1901861	regulation of muscle tissue development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1901861	Any process that modulates the frequency, rate or extent of muscle tissue development.	
NCBITaxon:2726946	Cladosporiales	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2726946		
CHEBI:2679	amphetamine	biolink:ChemicalSubstance	mondo			1-Phenylpropan-2-amin|anfetamina|rac-amphetamine|desoxynorephedrine|amfetamina|Amphetamine|amphetamine|beta-aminopropylbenzene|alpha-methylbenzeneethaneamine|Amphetamin|rac-(2R)-1-phenylpropan-2-amine|amfetaminum|1-phenyl-2-aminopropane|amphetaminium|Benzedrine|Amfetamine|amfetamine|beta-Phenylisopropylamin|beta-phenylisopropylamine|alpha-methylphenylethylamine	http://purl.obolibrary.org/obo/CHEBI_2679	A racemate comprising equimolar amounts of (R)-amphetamine (also known as levamphetamine or levoamphetamine) and (S)-amphetamine (also known as dexamfetamine or dextroamphetamine.	
UBERON:0001015	musculature	biolink:AnatomicalEntity	mondo			muscle group|muscles|musculi|muscle system|set of muscles|set of skeletal muscles|musculature|musculature system|muscles set	http://purl.obolibrary.org/obo/UBERON_0001015	A subdivision of the muscular system corresponding to a subdisivision of an organism.	
UBERON:0003679	mouth floor	biolink:AnatomicalEntity	mondo			floor of mouth|floor of the oval cavity|sublingual region|floor of oval cavity	http://purl.obolibrary.org/obo/UBERON_0003679	The ventral area of the mouth. In organisms with a tongue, this is the area under the ventral surface of the tongue[ncit, modified].	
UBERON:0001017	central nervous system	biolink:AnatomicalEntity	mondo			neuraxis|cerebrospinal axis|systema nervosum centrale|CNS	http://purl.obolibrary.org/obo/UBERON_0001017	The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the neural tube derivatives: the brain and spinal cord. In invertebrates it includes central ganglia plus nerve cord.	
UBERON:0001016	nervous system	biolink:AnatomicalEntity	mondo			neurological system|systema nervosum|nerve net	http://purl.obolibrary.org/obo/UBERON_0001016	The nervous system is an organ system containing predominantly neuron and glial cells. In bilaterally symmetrical organism, it is arranged in a network of tree-like structures connected to a central body. The main functions of the nervous system are to regulate and control body functions, and to receive sensory input, process this information, and generate behavior [CUMBO].	
HGNC:1884	CFTR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1884		
UBERON:0001010	diaphysis of ulna	biolink:AnatomicalEntity	mondo			ulnar diaphysis|shaft of ulna|supinator crest|shaft of ulna|body of ulna|corpus ulnae	http://purl.obolibrary.org/obo/UBERON_0001010	The body of the ulna at its upper part is prismatic in form, and curved so as to be convex behind and lateralward; its central part is straight; its lower part is rounded, smooth, and bent a little lateralward. It tapers gradually from above downward, and has three borders and three surfaces.	
UBERON:0001013	adipose tissue	biolink:AnatomicalEntity	mondo			adipose|bodyfat|fatty depot|fat tissue|fat|fatty tissue	http://purl.obolibrary.org/obo/UBERON_0001013	Portion of connective tissue composed of adipocytes enmeshed in areolar tissue	
UBERON:0003672	dentition	biolink:AnatomicalEntity	mondo			set of teeth|collection of teeth|teeth set|teeth|dentes|teeth	http://purl.obolibrary.org/obo/UBERON_0003672	A collection of teeth arranged in some pattern in the mouth or other part of the body. The arrangement may be a simple row, a collection of rows, or a more elaborate structure, such as a toooth whorl.	
GO:0070330	aromatase activity	biolink:OntologyClass	mondo			estrogen synthetase activity	http://purl.obolibrary.org/obo/GO_0070330	Catalysis of the reduction of an aliphatic ring to yield an aromatic ring.	
MONDO:0006804	inflammatory breast carcinoma	biolink:Disease	mondo	EFO:1000984|ONCOTREE:IBC|DOID:6263|ICDO:8530/3|MedDRA:10006205|MESH:D058922|UMLS:C0278601|SCTID:254840009|NCIT:C4001|GARD:0006784		mastitis carcinomatosa|breast cancer, inflammatory|mastitis Carcinomatosa|inflammatory carcinoma of breast|inflammatory carcinoma of the breast|inflammatory breast cancer|inflammatory breast carcinoma|IBC	http://purl.obolibrary.org/obo/MONDO_0006804	An advanced, invasive breast adenocarcinoma characterized by the presence of distinct changes in the overlying skin. These changes include diffuse erythema, edema, peau d'orange (skin of an orange) appearance, tenderness, induration, warmth, enlargement, and in some cases a palpable mass. The skin changes are the consequence of lymphatic obstruction from the underlying invasive breast adenocarcinoma. Microscopically, the dermal lymphatics show prominent infiltration by malignant cells. The invasive breast adenocarcinoma is usually of ductal, NOS type. There is not significant inflammatory cell infiltrate present, despite the name of this carcinoma.	UMLS:C0278601|NCIT:C4001|MESH:D058922|SNOMEDCT:254840009|DOID:6263
MONDO:0006805	intermediate coronary syndrome	biolink:Disease	mondo	MESH:D000789|UMLS:C0002965|DOID:8805|MedDRA:10022554|ICD9:411.1|ICD10:I20.0|EFO:1000985		Preinfarction angina|angina at rest|worsening angina|unstable angina|impending infarction|anginal chest pain at rest	http://purl.obolibrary.org/obo/MONDO_0006805	Angina pectoris (or equivalent type of ischemic discomfort) which has recently changed in frequency, duration, intensity, or occurs at rest.	NCIT:C66911|UMLS:C0002965|MESH:D000789|DOID:8805
MONDO:0006802	inappropriate ADH syndrome	biolink:Disease	mondo	UMLS:C0021141|EFO:1000982|NCIT:C3988|MedDRA:10042818|SCTID:55004003|DOID:3401|ICD9:253.6|ICD10:E22.2|MESH:D007177		syndrome of inappropriate antidiuretic hormone secretion|ectopic ADH secretion|inappropriate antidiuretic hormone secretion syndrome|inappropriate Arginine vasopressin secretion|ectopic antidiuretic hormone secretion|syndrome of inappropriate secretion of ADH|syndrome of inappropriate antidiuretic hormone|SIADH|syndrome of inappropriate secretion of antidiuretic hormone|syndrome of inappropriate vasopressin secretion|inappropriate ADH secretion	http://purl.obolibrary.org/obo/MONDO_0006802	A syndrome characterized by abnormal secretion of antidiuretic hormone in conjunction with neoplastic growth occurring anywhere in the body.	MESH:D007177|DOID:3401|SNOMEDCT:55004003|UMLS:C0021141|NCIT:C3988
MONDO:0006803	inferior myocardial infarction	biolink:Disease	mondo	EFO:1000983|MedDRA:10057546|UMLS:C0340305|MESH:D056989|DOID:5850			http://purl.obolibrary.org/obo/MONDO_0006803	Myocardial infarction in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery.	MESH:D056989|DOID:5850|UMLS:C0340305
MONDO:0006800	ideomotor apraxia	biolink:Disease	mondo	MESH:D020240|ICD9:315.8|EFO:1000980|DOID:4627|SCTID:229706001|MedDRA:10021216		classic apraxia (finding) [ambiguous]|limb-kinetic apraxia (finding)|transcortical apraxia (finding)|classic apraxia|limb-kinetic apraxia|ideomotor dyspraxia|transcortical apraxia	http://purl.obolibrary.org/obo/MONDO_0006800	A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres. (From Adams et al., Principles of Neurology, 6th ed, p57)	SNOMEDCT:229706001|DOID:4627|MESH:D020240
MONDO:0006801	ileal neoplasm	biolink:Disease	mondo	EFO:1000981|DOID:10156|UMLS:C0020876|NCIT:C3130|SCTID:126835002|MESH:D007078		ileal tumor|tumor of the ileum|neoplasm of ileum|ileum neoplasm|ileum tumor|tumor of ileum|neoplasm of the ileum|ileum neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0006801	A benign or malignant neoplasm that affects the wall of the ileum. Representative examples include adenoma, carcinoma, and lymphoma.	MESH:D007078|DOID:10156|NCIT:C3130|SNOMEDCT:126835002|UMLS:C0020876
UBERON:0003658	hip muscle	biolink:AnatomicalEntity	mondo			muscle organ of hip|hip muscle organ|muscle organ of hip region|muscle organ of regio coxae|hip region muscle organ|regio coxae muscle organ	http://purl.obolibrary.org/obo/UBERON_0003658	Any muscle organ that is part of a hip [Automatically generated definition].	
UBERON:0003659	pedal digit muscle	biolink:AnatomicalEntity	mondo			foot digit muscle organ|muscle organ of foot digit|foot digit muscle|muscle organ of digit of terminal segment of free lower limb|muscle organ of terminal segment of free lower limb digit|muscle organ of toe|digitus pedis muscle organ|digit of foot muscle organ|foot digit muscle|digit of terminal segment of free lower limb muscle organ|muscle organ of digit of foot|hind limb digit muscle|muscle organ of digitus pedis|toe muscle organ|terminal segment of free lower limb digit muscle organ	http://purl.obolibrary.org/obo/UBERON_0003659	Any muscle organ that is part of a toe [Automatically generated definition].	
UBERON:2001457	postcranial axial cartilage	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_2001457	Cartilage which is part of the axial skeleton.	
UBERON:0003660	eyelid muscle	biolink:AnatomicalEntity	mondo			muscle organ of eyelid|blepharon muscle organ|eyelid muscle organ|muscle organ of blepharon	http://purl.obolibrary.org/obo/UBERON_0003660	A muscle that attaches to an eyelid.	
HGNC:16725	LRRC6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16725		
NCBITaxon:69474	Orientia	organism taxon	mondo	GC_ID:11|PMID:8590688			http://purl.obolibrary.org/obo/NCBITaxon_69474		
GO:0070327	thyroid hormone transport	biolink:OntologyClass	mondo			thyroxine transport|triiodothyronine transport	http://purl.obolibrary.org/obo/GO_0070327	The directed movement of thyroid hormone into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
UBERON:0001004	respiratory system	biolink:AnatomicalEntity	mondo			systema respiratorium|apparatus respiratorius|Atmungssystem|apparatus respiratorius|respiratory system	http://purl.obolibrary.org/obo/UBERON_0001004	Functional system which consists of structures involved in respiration.	
UBERON:0001003	skin epidermis	biolink:AnatomicalEntity	mondo			skin|vertebrate epidermis|epidermis	http://purl.obolibrary.org/obo/UBERON_0001003	The outer epithelial layer of the skin that is superficial to the dermis.	
UBERON:0003668	synovial bursa	biolink:AnatomicalEntity	mondo			bursa|bursa synovialis	http://purl.obolibrary.org/obo/UBERON_0003668	A small fluid-filled sac lined by synovial membrane with an inner capillary layer of slimy fluid. It provides a cushion between bones and tendons and/or muscles around a joint. This helps to reduce friction between the bones and allows free movement. Bursae are filled with synovial fluid and are found around most major joints of the body.	
UBERON:0003665	post-anal tail muscle	biolink:AnatomicalEntity	mondo			tail muscle organ|tail muscle|post-vent region muscle organ|muscle organ of post-vent region|muscle organ of tail|caudal muscle	http://purl.obolibrary.org/obo/UBERON_0003665	A muscle organ that attaches to a tail vertebra [Automatically generated definition].	
UBERON:0001005	respiratory airway	biolink:AnatomicalEntity	mondo			airways|airway	http://purl.obolibrary.org/obo/UBERON_0001005	An airway through which respiratory air passes in organisms.	
GO:0070324	thyroid hormone binding	biolink:OntologyClass	mondo			thyroxine binding|triiodothyronine binding	http://purl.obolibrary.org/obo/GO_0070324	Interacting selectively and non-covalently with thyroxine (T4) or triiodothyronine (T3), tyrosine-based hormones produced by the thyroid gland.	
UBERON:0001000	vas deferens	biolink:AnatomicalEntity	mondo			vas deferen|sperm duct|deferent duct|ductus deferens|vasa deferentia	http://purl.obolibrary.org/obo/UBERON_0001000	A secretory duct that transports sperm from the testis. In mammals this is a continuation of the epididymis and ends in the prostatic urethra where it terminates to form ejaculatory duct	
UBERON:0003663	hindlimb muscle	biolink:AnatomicalEntity	mondo			muscle organ of inferior member|muscle organ of hind limb|muscle of posterior limb|free lower limb muscle|lower extremity muscle organ|muscle organ of lower extremity|muscle of free lower limb|lower limb skeletal muscle|hindlimb muscle organ|hind limb muscle organ|inferior member muscle organ|muscle organ of hindlimb	http://purl.obolibrary.org/obo/UBERON_0003663	Any muscle organ that is part of a hindlimb [Automatically generated definition].	
UBERON:0003664	manual digit muscle	biolink:AnatomicalEntity	mondo			muscle organ of digit of terminal segment of free upper limb|digitus manus muscle organ|muscle organ of terminal segment of free upper limb digit|fore limb digit muscle|digit of hand muscle organ|digit of terminal segment of free upper limb muscle organ|hand digit muscle|muscle organ of digit of hand|terminal segment of free upper limb digit muscle organ|finger muscle organ|muscle organ of digitus manus|muscle organ of hand digit|hand digit muscle organ|hand digit muscle|muscle organ of finger	http://purl.obolibrary.org/obo/UBERON_0003664	Any muscle organ that is part of a finger [Automatically generated definition].	
UBERON:0003661	limb muscle	biolink:AnatomicalEntity	mondo			limb muscle organ|muscle organ of limb|limb skeletal muscle	http://purl.obolibrary.org/obo/UBERON_0003661	Any muscle organ that is part of a limb [Automatically generated definition].	
UBERON:0003662	forelimb muscle	biolink:AnatomicalEntity	mondo			free upper limb muscle|fore limb muscle organ|wing muscle|musculature of the arm|muscle of free upper limb|muscle of upper limb|musculature of arm|upper limb skeletal muscle|arm muscle system|forelimb muscle organ	http://purl.obolibrary.org/obo/UBERON_0003662	Any muscle organ that is part of a forelimb.	
MONDO:0006859	mucinous cystadenoma	biolink:Disease	mondo	MESH:D018291|NCIT:C2973|EFO:1001048|ICDO:8470/0|ICDO:8480/0|UMLS:C0010635		mucinous adenoma|adenoma, mucinous, benign|mucinous cystadenoma|pseudomucinous cystadenoma|mucinous cystoma	http://purl.obolibrary.org/obo/MONDO_0006859	A benign or low malignant potential cystic epithelial neoplasm composed of cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung.	MESH:D018291|UMLS:C0010635|NCIT:C2973
MONDO:0006857	middle cerebral artery infarction	biolink:Disease	mondo	DOID:3525|MESH:D020244|UMLS:C0740392|EFO:1001045			http://purl.obolibrary.org/obo/MONDO_0006857	Necrosis occurring in the middle cerebral artery distribution system which brings blood to the entire lateral aspects of each cerebral hemisphere. Clinical signs include impaired cognition; aphasia; agraphia; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction.	MESH:D020244|UMLS:C0740392|DOID:3525
MONDO:0006858	mouth disease	biolink:Disease	mondo	SCTID:118938008|UMLS:C0026636|ICD9:528.9|MESH:D009059|DOID:403|NCIT:C3240|EFO:1001047		disorder of mouth|oral disease|mouth disease|disorder of mouth|disease or disorder of mouth|disease of mouth|oral disorder|mouth disease or disorder	http://purl.obolibrary.org/obo/MONDO_0006858	A disease involving the mouth.	SNOMEDCT:118938008|NCIT:C3240|MESH:D009059|DOID:403|UMLS:C0026636
MONDO:0006855	mesenteric vascular occlusion	biolink:Disease	mondo	UMLS:C0025472|DOID:13252|MedDRA:10074583|MESH:D008641|EFO:1001043			http://purl.obolibrary.org/obo/MONDO_0006855	Obstruction of the flow in the splanchnic circulation by atherosclerosis; embolism; thrombosis; stenosis; trauma; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as periarteritis nodosa and thromboangiitis obliterans. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6)	UMLS:C0025472|DOID:13252|MESH:D008641
MONDO:0006856	mesothelial neoplasm	biolink:Disease	mondo	NCIT:C3786|MESH:D018301|EFO:1001044|UMLS:C3714739		mesothelial tumor|mesothelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0006856	A benign or malignant neoplasm arising from mesothelial cells. Mesothelial cells are the lining cells of the pleura and peritoneum. -- 2003	MESH:D018301|NCIT:C3786|UMLS:C3714739
MONDO:0006853	mesenchymal chondrosarcoma	biolink:Disease	mondo	UMLS:C0206637|MedDRA:10027389|DOID:4545|ICDO:9240/3|MESH:D018211|NCIT:C3737|ONCOTREE:MCHS|EFO:1001041		mesenchymal chondrosarcoma	http://purl.obolibrary.org/obo/MONDO_0006853	A morphologic variant of chondrosarcoma arising from bone and soft tissue. It is characterized by the presence of malignant small round cells, biphasic growth pattern, and well differentiated hyaline cartilage. Clinical presentation includes pain and swelling. The clinical course is aggressive, with local recurrences and distant metastases.	NCIT:C3737|DOID:4545|UMLS:C0206637|MESH:D018211
MONDO:0006854	mesenchymoma	biolink:Disease	mondo	ICDO:8990/1|DOID:2668|UMLS:C0025464|MESH:D008637|NCIT:C3233|EFO:1001042		mesenchymoma	http://purl.obolibrary.org/obo/MONDO_0006854	A term describing a soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation.	NCIT:C3233|UMLS:C0025464|MESH:D008637|DOID:2668
MONDO:0006851	meconium aspiration syndrome	biolink:Disease	mondo	MedDRA:10027057|UMLS:C0025048|COHD:437374|Orphanet:70588|DOID:11049|ICD9:770.1|MESH:D008471|EFO:1001037|GARD:0010494|ICD10:P24.0|ICD10:P24.01|ICD10:P24.00|SCTID:206292002|NCIT:C87093	ordo_disease	aspiration, meconium|meconium aspiration|neonatal aspiration of meconium|syndrome, meconium aspiration|meconium inhalation|aspiration syndrome, meconium|MAS|meconium aspiration syndrome	http://purl.obolibrary.org/obo/MONDO_0006851	A serious condition in which a newborn breathes a mixture of meconium (the first intestinal discharge) and amniotic fluid into the lungs around the time of delivery. Meconium aspiration syndrome occurs in 5-10 percent of births and typically occurs when the infant is stressed, as when the infant is past its due date.	SNOMEDCT:206292002|UMLS:C0025048|NCIT:C87093|MESH:D008471|DOID:11049|ORPHA:70588
MONDO:0006852	obsolete meningococcal meningitis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006852		
MONDO:0006850	maxillary sinus neoplasm	biolink:Disease	mondo	MedDRA:10026130|DOID:1358|MESH:D008444|EFO:1001035|SCTID:126676009|NCIT:C3219|UMLS:C0024958		tumor of maxillofacial sinus|maxillary sinus neoplasm (disease)|tumor of the maxillofacial sinus|neoplasm of maxillary sinus|tumor of the maxillary sinus|maxillary sinus tumor|neoplasm of maxillary antrum|neoplasm of the maxillary antrum|maxillary antrum tumor|maxillary sinus neoplasm|neoplasm of the maxillofacial sinus|neoplasm of maxillofacial sinus|maxillofacial sinus tumor|maxillofacial sinus neoplasm|tumor of maxillary sinus|neoplasm of the maxillary sinus|tumor of maxillary antrum|maxillary antrum neoplasm|tumor of the maxillary antrum	http://purl.obolibrary.org/obo/MONDO_0006850	A benign or malignant neoplasm that affects the maxillary sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.	NCIT:C3219|SNOMEDCT:126676009|MESH:D008444|UMLS:C0024958|DOID:1358
MONDO:0018848	IgG4-related retroperitoneal fibrosis	biolink:Disease	mondo	MedDRA:10038979|SCTID:197808006|NCIT:C26876|ICD9:593.4|MESH:D012185|Orphanet:49041|GARD:0009568|ICD10:N13.5	ordo_disease	retroperitoneal fibrosis|idiopathic retroperitoneal fibrosis|Ormond disease|Ormond's disease	http://purl.obolibrary.org/obo/MONDO_0018848	Retroperitoneal fibrosis (RPF) is characterized by the development of a fibrotic mass surrounding retroperitoneal structures, such as aorta, vena cava, ureters and psoas muscle.	SNOMEDCT:197808006|UMLS:C0035357|NCIT:C26876|MEDDRA:10038979|MESH:D012185|ORPHA:49041
UBERON:0001073	ileocecal junction	biolink:AnatomicalEntity	mondo			ileocaecal junction	http://purl.obolibrary.org/obo/UBERON_0001073	A point along the course of the gastrointestinal tract where the small intestine (ileum) ends as it opens into the cecal portion of the large intestine; occurs usually within the iliac fossa, demarcated internally as the ileocecal orifice	
UBERON:0001072	posterior vena cava	biolink:AnatomicalEntity	mondo			posterior vena cava|inferior vena cava|postcava|inferior caval vein|vena cava inferior|caudal vena cava	http://purl.obolibrary.org/obo/UBERON_0001072	A vein that carries deoxygenated blood from the lower half of the body into the right atrium of the heart.	
MONDO:0018847	omphalomesenteric cyst	biolink:Disease	mondo	ICD10:Q43.0|Orphanet:490|GARD:0004081|SCTID:80880002	ordo_morphological_anomaly|gard_rare		http://purl.obolibrary.org/obo/MONDO_0018847		SNOMEDCT:80880002|ORPHA:490
UBERON:0001075	bony vertebral centrum	biolink:AnatomicalEntity	mondo			body of vertebra|corpus vertebra|vertebral centra|centra|vertebral body|holocentrum|vertebral centrum|corpus vertebrae|corpus vertebrae (vertebrale)|arcocentrum|autocentrum	http://purl.obolibrary.org/obo/UBERON_0001075	Ossified form of a vertebral centrum, a skeletal element that functionally replaces the notochord[VSAP,modified].	
MONDO:0018849	dentinogenesis imperfecta (disease)	biolink:Disease	mondo	UMLS:C0011436|NCIT:C84667|ICD9:520.5|DOID:4154|MESH:D003811|MedDRA:10054013|SCTID:196286005|HP:0000703|ICD10:K00.5|Orphanet:49042|GARD:0006258	ordo_disease	opalescent teeth without osteogenesis imperfecta|DGI without OI|DGI|DI|opalescent teeth without OI|dentinogenesis imperfecta|dentinogenesis imperfecta without osteogenesis imperfecta|non-syndromic DGI|non-syndromic dentinogenesis imperfecta	http://purl.obolibrary.org/obo/MONDO_0018849	Dentinogenesis imperfecta (DGI) is a hereditary dentin defect characterized by abnormal dentin structure resulting in abnormal tooth development.	SNOMEDCT:196286005|NCIT:C84667|MEDDRA:10054013|MESH:D003811|DOID:4154|ORPHA:49042|UMLS:C0011436
UBERON:0001074	pericardial cavity	biolink:AnatomicalEntity	mondo			cavity of pericardial sac|pericardial space|cavitas pericardiaca	http://purl.obolibrary.org/obo/UBERON_0001074	A potential space between the visceral and parietal layers of the pericardium.	
MONDO:0018844	urachal cyst (disease)	biolink:Disease	mondo	SCTID:17234001|ICD10:Q64.4|HP:0012618|MESH:D014496|MedDRA:10065375|GARD:0005425|NCIT:C85216|Orphanet:488	ordo_morphological_anomaly	urachal cyst	http://purl.obolibrary.org/obo/MONDO_0018844	Urachal cyst is a congenital urachal anomaly characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever.	MESH:D014496|MEDDRA:10065375|SNOMEDCT:17234001|ORPHA:488|UMLS:C0041915|NCIT:C85216
MONDO:0018843	embryonal carcinoma of the central nervous system	biolink:Disease	mondo	ONCOTREE:BEC|DOID:7232|NCIT:C7010|ICD10:C71.9|Orphanet:48736|UMLS:C1333377	ordo_clinical_subtype	embryonal carcinoma|embryonal carcinoma of the CNS|embryonal carcinoma of the central nervous system|central nervous system embryonal carcinoma|embryonal carcinoma of CNS	http://purl.obolibrary.org/obo/MONDO_0018843	A embryonal carcinoma that involves the central nervous system.	ORPHA:48736|DOID:7232|UMLS:C1333377|NCIT:C7010
MONDO:0018846	penile agenesis	biolink:Disease	mondo	NCIT:C99009|MESH:C536649|ICD10:Q55.5|SCTID:59981001|GARD:0004272|Orphanet:49	ordo_morphological_anomaly	congenital absence of penis|Aphallia|Aphallus|agenesis of the penis|penis agenesia|micropenis|penis agenesis	http://purl.obolibrary.org/obo/MONDO_0018846	An extremely rare congenital abnormality characterized by the complete absence of the penis. It may be associated with other genitourinary abnormalities.	ORPHA:49|UMLS:C1387005|SNOMEDCT:59981001|MESH:C536649|NCIT:C99009
UBERON:0001071	superficial cervical artery	biolink:AnatomicalEntity	mondo			superficial branch of transverse cervical artery	http://purl.obolibrary.org/obo/UBERON_0001071	It ascends beneath the anterior margin of the trapezius, distributing branches to it, and to the neighboring muscles and lymph glands in the neck, and anastomosing with the superficial branch of the descending branch of the occipital artery.	
MONDO:0018845	focal myositis	biolink:Disease	mondo	Orphanet:48918|ICD9:729.1|ICD10:M60.8|SCTID:240119009	ordo_disease	inflammatory pseudotumor of skeletal muscle|focal nodular myositis	http://purl.obolibrary.org/obo/MONDO_0018845	Focal myositis is a rare inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities.	SNOMEDCT:240119009|ORPHA:48918|UMLS:C0751357
UBERON:0001070	external carotid artery	biolink:AnatomicalEntity	mondo			external carotid|arteria carotis externa	http://purl.obolibrary.org/obo/UBERON_0001070	A terminal branch of the left or right common carotid artery which supplies oxygenated blood to to the throat, neck glands, tongue, face, mouth, ear, scalp and dura mater of the meninges[MP]	
MONDO:0018840	isolated congenital hepatic fibrosis	biolink:Disease	mondo	Orphanet:485426|MESH:C562378|ICD9:777.8|UMLS:C0009714|NCIT:C97071|SCTID:79607001|GARD:0006168	gard_rare|ordo_disease	congenital hepatic fibrosis|nonsyndromic congenital hepatic fibrosis|isolated CHF|congenital fibrose liver	http://purl.obolibrary.org/obo/MONDO_0018840	A congenital disorder usually inherited in an autosomal recessive pattern. It affects the hepatobiliary system and the kidneys. It is characterized by liver fibrosis, portal hypertension, and renal cysts.	ORPHA:485426|UMLS:C0009714|SNOMEDCT:79607001|NCIT:C97071|MESH:C562378
MONDO:0018842	primary effusion lymphoma	biolink:Disease	mondo	ICDO:9678/3|MESH:D054685|ICD9:202.80|GARD:0009247|Orphanet:48686|SCTID:713516007|NCIT:C6915|ONCOTREE:PEL|ICD10:C83.8|UMLS:C1292753|MedDRA:10065857|EFO:1000491	gard_rare|ordo_disease	primary Effusion Lymphoma|AIDS-related lymphoma|body cavity-based lymphoma|PEL	http://purl.obolibrary.org/obo/MONDO_0018842	Primary effusion lymphoma (PEL) is a large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8).	NCIT:C6915|ORPHA:48686|SNOMEDCT:713516007|MEDDRA:10065857|MESH:D054685|UMLS:C1292753
MONDO:0018841	congenital bile acid synthesis defect	biolink:Disease	mondo	UMLS:CN239183|ICD10:K76.8|Orphanet:485631|DOID:0050674|EFO:0009039|OMIMPS:607765	ordo_group_of_disorders	cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency|3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency|BASD|CBA|bile acid synthesis defect, congenital	http://purl.obolibrary.org/obo/MONDO_0018841		ORPHA:485631|UMLS:CN239183|DOID:0050674
UBERON:0001077	transverse process of vertebra	biolink:AnatomicalEntity	mondo			diapophyses|processus transversus|diapophysis|vertebra transverse process|transverse process|processus transversus vertebrae	http://purl.obolibrary.org/obo/UBERON_0001077	The transverse or costal processes of a vertebra, two in number, project one at either side from the point where the lamina joins the pedicle, between the superior and inferior articular processes. They serve for the attachment of muscles and ligaments. [WP,unvetted].	
MONDO:0004207	pulmonary artery leiomyosarcoma	biolink:Disease	mondo	DOID:7389|NCIT:C5373|UMLS:C1335572		leiomyosarcoma of the pulmonary artery|leiomyosarcoma of pulmonary artery|pulmonary artery leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0004207	An aggressive malignant smooth muscle neoplasm, arising from the pulmonary artery It is characterized by a proliferation of neoplastic spindle cells.	NCIT:C5373|UMLS:C1335572|DOID:7389
MONDO:0004206	pulmonary vein leiomyosarcoma	biolink:Disease	mondo	DOID:7388|NCIT:C5374|UMLS:C1335575		leiomyosarcoma of pulmonary vein|pulmonary vein leiomyosarcoma|leiomyosarcoma of the pulmonary vein	http://purl.obolibrary.org/obo/MONDO_0004206	An aggressive malignant smooth muscle neoplasm, arising from the pulmonary vein. It is characterized by a proliferation of neoplastic spindle cells.	NCIT:C5374|UMLS:C1335575|DOID:7388
MONDO:0004209	cerebral primitive neuroectodermal tumor	biolink:Disease	mondo	DOID:7398|UMLS:C0751675|NCIT:C4970		cerebral primitive neuroectodermal tumor|cerebral embryonal tumor, not otherwise specified|cerebral hemisphere primitive neuroectodermal neoplasm|cerebral PNET|primitive neuroectodermal neoplasm of cerebrum|PNET of cerebrum|primitive neuroectodermal neoplasm of cerebral hemispheres|primitive neuroectodermal neoplasm of the cerebral hemispheres|cerebral embryonal tumor, NOS|primitive neuroectodermal neoplasm of the cerebrum|cerebral hemisphere PNET|primitive neuroectodermal tumor of cerebral hemispheres|cerebral hemisphere primitive neuroectodermal tumor|primitive neuroectodermal tumor of cerebrum|primitive neuroectodermal tumor of the cerebrum|primitive neuroectodermal tumor of the cerebral hemispheres|cerebral primitive neuroectodermal neoplasm|PNET of cerebral hemispheres|PNET of the cerebrum|PNET of the cerebral hemispheres	http://purl.obolibrary.org/obo/MONDO_0004209	A central nervous system embryonal tumor, not otherwise specified arising from the cerebral hemispheres.	DOID:7398|NCIT:C4970|UMLS:C0751675
MONDO:0006868	neurogenic bowel	biolink:Disease	mondo	EFO:1001061|MedDRA:10048657|UMLS:C0695242|ICD10:K59.2|COHD:201900|MESH:D055496|DOID:13419|ICD9:564.81|SCTID:425671009			http://purl.obolibrary.org/obo/MONDO_0006868	Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body.	UMLS:C0695242|MESH:D055496|SNOMEDCT:425671009|DOID:13419
MONDO:0006869	nodular goiter (disease)	biolink:Disease	mondo	EFO:1001062|MESH:D006044|UMLS:C0018023|HP:0005994|DOID:13197|SCTID:419153005|MedDRA:10018495|NCIT:C131437		nodular goiter NOS|nodular goitre|goiter, nodular|nodular goiter	http://purl.obolibrary.org/obo/MONDO_0006869	Goiter characterized by discrete tissue mass(es) that may or may not produce thyroid hormones.	SNOMEDCT:419153005|DOID:13197|MESH:D006044|NCIT:C131437|UMLS:C0018023
MONDO:0004208	superior vena cava leiomyosarcoma	biolink:Disease	mondo	NCIT:C6745|UMLS:C1336531|DOID:7390		leiomyosarcoma of Superior vena cava|leiomyosarcoma of anterior vena cava|leiomyosarcoma of the Superior vena cava|anterior vena cava leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0004208	An aggressive malignant smooth muscle neoplasm, arising from the superior vena cava. It is characterized by a proliferation of neoplastic spindle cells.	NCIT:C6745|UMLS:C1336531|DOID:7390
MONDO:0006866	neonatal myasthenia gravis	biolink:Disease	mondo	SCTID:82178003|EFO:1001059|MESH:D020941|MedDRA:10028963|ICD9:775.2|DOID:14043		neonatal myasthenia gravis	http://purl.obolibrary.org/obo/MONDO_0006866	A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)	MESH:D020941|SNOMEDCT:82178003|DOID:14043
MONDO:0004203	female urethral cancer	biolink:Disease	mondo	DOID:738|UMLS:C1517154|NCIT:C39866		cancer of female urethra|malignant female urethra neoplasm|malignant neoplasm of female urethra|female urethra cancer|female urethral malignant neoplasm	http://purl.obolibrary.org/obo/MONDO_0004203	A cancer that involves the female urethra.	UMLS:C1517154|NCIT:C39866|DOID:738
MONDO:0004202	adrenal medulla carcinoma	biolink:Disease	mondo	DOID:7379		carcinoma of adrenal medulla|adrenal medulla carcinoma	http://purl.obolibrary.org/obo/MONDO_0004202	A carcinoma that arises from epithelial cells of the adrenal medulla	DOID:7379
MONDO:0006867	obsolete neovascular glaucoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006867		
MONDO:0004205	lymphohistiocytoid mesothelioma	biolink:Disease	mondo	UMLS:C1334464|DOID:7381|NCIT:C27779			http://purl.obolibrary.org/obo/MONDO_0004205		NCIT:C27779|UMLS:C1334464|DOID:7381
MONDO:0006864	necrotizing sialometaplasia	biolink:Disease	mondo	SCTID:109769000|DOID:12901|MedDRA:10072176|ICD9:527.8|UMLS:C0037033|ICD10:K11.8|EFO:1001057|MESH:D012797			http://purl.obolibrary.org/obo/MONDO_0006864	A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma.	UMLS:C0037033|MESH:D012797|SNOMEDCT:109769000|DOID:12901
MONDO:0006865	necrotizing ulcerative gingivitis	biolink:Disease	mondo	ICD9:101|MESH:D005892|DOID:13924|SCTID:186963008|COHD:26908|NCIT:C34637|ICD10:A69.1|UMLS:C0017575|GARD:0005736|EFO:1001058	gard_rare	ANUG|Vincent's disease|Vincent's infection|acute necrotizing ulcerative gingivitis|Vincent's angina|acute necrotising ulcerative gingivostomatitis|early acute necrotising gingivitis|Vincent's infection, any site|Vincent's angina NOS|Vincent's gingivitis|phagedenic gingivitis|Fusospirillary gingivitis|acute necrotising ulcerative gingivostomatitis [ambiguous]|trench mouth|acute necrotising ulcerative gingivitis|Vincent's stomatitis|angina - Vincents|acute necrotizing ulcerative gingivostomatitis|acute ulceromembranous gingivitis|Vincent angina|Fusospirillosis|acute membranous gingivitis|acute necrotising ulcerative gingivitis [ambiguous]|Vincent's angina - pharyngitis	http://purl.obolibrary.org/obo/MONDO_0006865	A bacterial infectious process affecting the gums. It is characterized by the development of necrotic, ulcerated, and painful lesions with creation of pseudomembranes extending along the gingival margins.	UMLS:C0017575|MESH:D005892|SNOMEDCT:186963008|NCIT:C34637|DOID:13924
MONDO:0004204	squamous cell skin papilloma	biolink:Disease	mondo	NCIT:C4462|SCTID:254661000|DOID:7380|UMLS:C0345983		parakeratotic skin papilloma|hyperkeratotic papilloma of skin|hyperkeratotic papilloma of the skin|Dyskeratotic papilloma of skin|Dyskeratotic papilloma of the skin|Dyskeratotic skin papilloma|parakeratotic papilloma of skin|parakeratotic papilloma of the skin|hyperkeratotic skin papilloma|zone of skin squamous papilloma|squamous cell papilloma of skin|squamous cell papilloma of the skin|squamous cell skin papilloma	http://purl.obolibrary.org/obo/MONDO_0004204	A squamous papilloma that involves the zone of skin.	SNOMEDCT:254661000|NCIT:C4462|DOID:7380|UMLS:C0345983
MONDO:0006862	myofascial pain syndrome	biolink:Disease	mondo	UMLS:C0027073|SCTID:24693007|ICD9:729.1|MESH:D009209|EFO:1001054|MedDRA:10048780|DOID:431			http://purl.obolibrary.org/obo/MONDO_0006862	Muscular pain in numerous body regions that can be reproduced by pressure on trigger points, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the temporomandibular joint dysfunction syndrome.	SNOMEDCT:24693007|UMLS:C0027073|MESH:D009209|DOID:431
MONDO:0006863	myxosarcoma	biolink:Disease	mondo	NCIT:C3255|MESH:D009236|DOID:4136|ICDO:8840/3|EFO:1001056|UMLS:C0027155		myxosarcoma, malignant|myxosarcoma (morphologic abnormality)|myxosarcoma	http://purl.obolibrary.org/obo/MONDO_0006863	An infiltrating malignant soft tissue neoplasm characterized by the presence of immature undifferentiated cells and abundant myxoid stroma formation.	NCIT:C3255|UMLS:C0027155|MESH:D009236|DOID:4136
MONDO:0004201	pituitary hypoplasia	biolink:Disease	mondo	NCIT:C27343|DOID:7378|UMLS:C0948740		pituitary hypoplasia|pituitary gland hypoplasia	http://purl.obolibrary.org/obo/MONDO_0004201	Incomplete development of the pituitary gland.	DOID:7378|UMLS:C0948740|NCIT:C27343
MONDO:0006860	obsolete mucoepidermoid tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006860		
MONDO:0006861	myeloid sarcoma	biolink:Disease	mondo	ICD10:C92.30|GARD:0012763|ICD10:C92.3|ONCOTREE:MS|ICD9:205.3|ICDO:9930/3|MedDRA:10028562|NCIT:C3520|Orphanet:86850|MESH:D023981|EFO:1001052|COHD:140967|DOID:8683	ordo_disease	chloroma|granulocytic sarcoma|sarcoma, myeloid, malignant|MS|myeloid sarcoma|extramedullary myeloid tumor	http://purl.obolibrary.org/obo/MONDO_0006861	A tumor mass composed of myeloblasts or immature myeloid cells. It occurs in extramedullary sites or the bone. (WHO, 2001)	DOID:8683|NCIT:C3520|ORPHA:86850|MESH:D023981
MONDO:0004200	superficial urinary bladder carcinoma	biolink:Disease	mondo	NCIT:C27474|SCTID:425231005|DOID:7371|UMLS:C1336527		superficial urinary bladder carcinoma|superficial bladder carcinoma|superficial bladder cancer|superficial urinary bladder cancer	http://purl.obolibrary.org/obo/MONDO_0004200	A term used by urologists to describe an infiltrating carcinoma of the bladder that has not invaded into the muscularis propria of the bladder wall regardless of histologic type or grade.	DOID:7371|NCIT:C27474|SNOMEDCT:425231005|UMLS:C1336527
MONDO:0018829	familial schizencephaly	biolink:Disease	mondo	MESH:C538514|UMLS:C2931870|Orphanet:481986|UMLS:CN776926|GARD:0000166	ordo_etiological_subtype	familial schizencephaly|hereditary schizencephaly	http://purl.obolibrary.org/obo/MONDO_0018829	An instance of schizencephaly that is caused by an inherited modification of the individual's genome.	ORPHA:481986|UMLS:CN776926|UMLS:C2931870|MESH:C538514
UBERON:0001062	anatomical entity	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0001062	Biological entity that is either an individual member of a biological species or constitutes the structural organization of an individual member of a biological species.	
MONDO:0018837	postinfectious vasculitis	biolink:Disease	mondo	Orphanet:48435|UMLS:C4510302|ICD10:I77.6|SCTID:724063005	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018837	Vasculitis, characterized by inflammatory lesions in the wall of vessels, may be due to different viruses.	ORPHA:48435|UMLS:C4510302|SNOMEDCT:724063005
MONDO:0018836	obsolete subcorneal pustular dermatosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018836		
MONDO:0018839	acquired schizencephaly	biolink:Disease	mondo	Orphanet:485275|UMLS:CN776925	ordo_etiological_subtype	acquired schizencephaly	http://purl.obolibrary.org/obo/MONDO_0018839	An instance of schizencephaly that is acquired during the lifetime of the individual.	UMLS:CN776925|ORPHA:485275
UBERON:0001064	ventral pancreatic duct	biolink:AnatomicalEntity	mondo			hepaticopancreatic duct|main pancreatic duct|ductus pancreatis ventralis|canal of Wirsung|pancreatic duct|chief pancreatic duct|duct of Wirsung	http://purl.obolibrary.org/obo/UBERON_0001064	A duct joining the pancreas to the common bile duct to supply pancreatic juices which aid in digestion provided by the exocrine pancreas. The pancreatic duct joins the common bile duct just prior to the ampulla of Vater, after which both ducts perforate the medial side of the second portion of the duodenum at the major duodenal papilla.	
MONDO:0018838	lissencephaly spectrum disorders	biolink:Disease	mondo	DOID:0050453|ICD10:Q04.8|SCTID:204036008|NCIT:C103921|GARD:0012291|ICD10:Q04.3|OMIMPS:607432|UMLS:C0266463|GARD:0007300|MedDRA:10048911|Orphanet:48471|HP:0001339|MESH:D054082	ordo_group_of_disorders	Broad gyri of cerebrum|macrogyria|lissencephaly|pachygyria|large gyri of cerebrum|lissencephaly (disease)	http://purl.obolibrary.org/obo/MONDO_0018838	The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis.	NCIT:C103921|SNOMEDCT:204036008|ORPHA:48471|UMLS:C0266463|MESH:D054082|DOID:0050453|MEDDRA:10048911
MONDO:0018833	rare idiopathic macular telangiectasia	biolink:Disease	mondo	Orphanet:482092|UMLS:CN776863	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0018833		UMLS:CN776863|ORPHA:482092
MONDO:0018832	HTRA1-related autosomal dominant cerebral small vessel disease	biolink:Disease	mondo	UMLS:CN776823|Orphanet:482077	ordo_disease	HTRA1-related autosomal dominant cerebral angiopathy	http://purl.obolibrary.org/obo/MONDO_0018832		UMLS:CN776823|ORPHA:482077
HGNC:16700	ZFPM2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16700		
MONDO:0018835	nodular regenerative hyperplasia of the liver	biolink:Disease	mondo	ICD9:573.8|UMLS:CN205145|ICD10:K76.8|SCTID:715140008|GARD:0010929|Orphanet:48372	ordo_disease	nodular regenerative hyperplasia|non-cirrhotic nodular transformation|non-cirrhotic portal hypertension|non-cirrhotic nodulation|miliary hepatocellular adenomatosis	http://purl.obolibrary.org/obo/MONDO_0018835	Nodular regenerative hyperplasia of the liver is a rare parenchymatous liver disease characterized by diffuse benign transformation of the hepatic parenchyma into multiple small nodules (composed of regenerating hepatocytes) and that is usually asymptomatic but can lead to the development of non-cirrhotic portal hypertension and its complications, including esophageal variceal bleeding, hypersplenism and ascites. It is often associated with rheumatologic, autoimmune, hematologic, and myeloproliferative disorders as well as various immune deficiency states and exposure certain drugs and toxins.	UMLS:CN205145|ORPHA:48372|SNOMEDCT:715140008
MONDO:0018834	adenylosuccinate synthetase-like 1-related distal myopathy	biolink:Disease	mondo	Orphanet:482601	ordo_disease	ADSSL1-related distal myopathy	http://purl.obolibrary.org/obo/MONDO_0018834		ORPHA:482601
MONDO:0018831	HTRA1-related cerebral small vessel disease	biolink:Disease	mondo	Orphanet:482072|UMLS:CN776824	ordo_group_of_disorders	HTRA1-related cerebral angiopathy	http://purl.obolibrary.org/obo/MONDO_0018831		UMLS:CN776824|ORPHA:482072
MONDO:0018830	Kimura disease	biolink:Disease	mondo	UMLS:C0033838|Wikipedia:Kimura's_disease|EFO:1000722|DOID:7365|NCIT:C26867|MESH:D000796|Orphanet:482|GARD:0006835|MedDRA:10048640|ICD10:I89.8	gard_rare|ordo_disease	eosinophilic lymphogranuloma|angiolymphoid hyperplasia with eosinophilia|eosinophilic lymphofollicular granuloma|eosinophilic hyperplastic lymphogranuloma|eosinophilic lymphofolliculosis|eosinophilic granuloma of soft tissue|Kimura's disease	http://purl.obolibrary.org/obo/MONDO_0018830	Kimura disease is a benign and chronic inflammatory disorder of unknown etiology, occurring mainly in Asian countries (very rarely in Western countries) and predominantly affecting young men, that usually presents with a solitary or multiple non-tender subcutaneous masses in the head and neck region (in particular the preauricular and submandibular area) and/or generalized painless lymphadenopathy, often with salivary gland involvement. Characteristic laboratory findings include blood eosinophilia and markedly elevated serum immunoglobulin E (IgE) levels. It is often associated with autoinflammatory disorders (i.e. ulcerative colitis, bronchial asthma) and a co-existing renal disease.	NCIT:C26867|UMLS:C0033838|DOID:7365|MEDDRA:10048640|ORPHA:482|MESH:D000796
UBERON:0001066	intervertebral disk	biolink:AnatomicalEntity	mondo			discus intervertebralis|spinal disc|intervertebral fibrocartilage|intervertebral disc|spinal disk	http://purl.obolibrary.org/obo/UBERON_0001066	A pad of fibrocartilage between the articular surfaces of two successive vertebral centra which has nucleus pulposus at its core.	
UBERON:0001068	skin of back	biolink:AnatomicalEntity	mondo			back zone of skin|back skin|zone of skin of back|skin, dorsal region	http://purl.obolibrary.org/obo/UBERON_0001068	A zone of skin that is part of a back [Automatically generated definition].	
MONDO:0006837	low tension glaucoma	biolink:Disease	mondo	ICD9:365.12|ICD10:H40.12|EFO:1001022|DOID:13544|COHD:441561|MESH:D057066|UMLS:C0152136|MedDRA:10024931|SCTID:50485007		tension Glaucomas, normal|Glaucomas, normal tension|glaucoma, normal tension|tension Glaucomas, Low|normal tension Glaucomas|tension glaucoma, normal|low tension Glaucomas|normal tension glaucoma|tension glaucoma, Low|glaucoma, Low tension|Glaucomas, Low tension	http://purl.obolibrary.org/obo/MONDO_0006837	A form of glaucoma in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure.	DOID:13544|UMLS:C0152136|MESH:D057066|SNOMEDCT:50485007
MONDO:0006838	lupus vulgaris	biolink:Disease	mondo	MESH:D008177|EFO:1001023|UMLS:C0024131|MedDRA:10025143|SCTID:10528009			http://purl.obolibrary.org/obo/MONDO_0006838	A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the nasal mucosa; buccal mucosa; and conjunctival mucosa.	UMLS:C0024131|SNOMEDCT:10528009|MESH:D008177
MONDO:0006835	lipoid nephrosis	biolink:Disease	mondo	ICD10:N04|EFO:1001020|NCIT:C34844|SCTID:44785005|UMLS:C0027721|GARD:0009147|MedDRA:10058325|DOID:10966|MESH:D009402		minimal change disease|minimal change glomerulopathy|lipoid nephrosis|MCNS|minimal change nephropathy|nephrotic syndrome with lesion of minimal change nephrotic syndrome|minimal change glomerulonephritis|nil disease|minimal change nephrotic syndrome|idiopathic minimal change nephrotic syndrome|nephrotic syndrome with lesion of minimal change glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0006835	A glomerular disorder characterized by the electron microscopic finding of loss of podocyte foot processes. Light microscopic examination does not show glomerular changes. Patients present with proteinuria and nephrotic syndrome.	NCIT:C34844|DOID:10966|UMLS:C0027721|MESH:D009402|SNOMEDCT:44785005
MONDO:0006836	Listeria meningitis	biolink:Disease	mondo	EFO:1001021|ICD9:320.7|DOID:11572|UMLS:C0025293|MESH:D008584|SCTID:31568009		meningitis, Listeria monocytogenes|cerebritis, Listeria|Meningitides, Listeria monocytogenes|Cerebritides, Listeria|Listeria Meningitides|meningoencephalitis, Listeria|Meningoencephalitides, Listeria|Listeria monocytogenes caused infectious meningitis|Listeria meningoencephalitis|Listeria monocytogenes infectious meningitis|Listeria Meningoencephalitides|Listeria cerebritis|Meningitides, Listeria|Listeria Cerebritides|Listeria monocytogenes meningitis|Listeria monocytogenes Meningitides|Listeria meningitis	http://purl.obolibrary.org/obo/MONDO_0006836	Inflammation of the meninges caused by listeria monocytogenes infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with immunologic deficiency syndromes. Clinical manifestations include fever, altered mentation, headache, meningeal signs, focal neurologic signs, and seizures. (From Medicine 1998 Sep;77(5):313-36)	MESH:D008584|DOID:11572|SNOMEDCT:31568009|UMLS:C0025293
MONDO:0006833	lingual goiter	biolink:Disease	mondo	DOID:13196|SCTID:75667007|MESH:D047268|EFO:1001018|UMLS:C0271760|ICD9:759.2			http://purl.obolibrary.org/obo/MONDO_0006833	Pathological enlargement of the lingual thyroid, ectopic thyroid tissue at the base of the tongue. It may cause upper airway obstruction; dysphagia; or hypothyroidism symptoms.	MESH:D047268|SNOMEDCT:75667007|UMLS:C0271760|DOID:13196
MONDO:0006834	lip cancer	biolink:Disease	mondo	ICD9:140.6|NCIT:C7485|ICD10:C00|ICD9:140.5|EFO:1001019|DOID:8564|ICD9:140|MedDRA:10007089|MESH:D008048|ICD10:C00.9|ICD9:140.8|SCTID:187622006		malignant lip neoplasm|malignant tumour of labial commissure|malignant neoplasm of oral aspect of lip, not specified whether upper or lower|malignant neoplasm of lower lip, inner aspect|malignant neoplasm of lower lip, mucosa|malignant tumour of lip|malignant neoplasm of vermilion border of lip|malignant neoplasm of lip|malignant tumor of Lip|malignant neoplasm of lip, inner aspect|malignant tumor of commissure of lip|malignant neoplasm of lip, unspecified, inner aspect|malignant neoplasm of lip, vermilion border|malignant neoplasm of lip, unspecified, vermilion border|malignant neoplasm of external Lip, not specified as upper or lower|malignant tumor of lower labial mucosa|malignant tumor of labial mucosa|malignant neoplasm of lower lip, buccal aspect|malignant neoplasm of lip, unspecified|malignant Lip neoplasm|malignant neoplasm of lip, external|malignant tumor of the Lip|malignant neoplasm of labial commissure of lip|cancer of lip|malignant neoplasm of other sites of lip|malignant neoplasm of the Lip|malignant neoplasm of commissure of lip|lip cancer|malignant neoplasm of lower lip, oral aspect|malignant neoplasm of Lip|malignant Lip tumor	http://purl.obolibrary.org/obo/MONDO_0006834	A primary or metastatic malignant neoplasm involving the lip.	NCIT:C7485|SNOMEDCT:187622006|DOID:8564|MESH:D008048
MONDO:0006831	leukostasis	biolink:Disease	mondo	DOID:12986|EFO:1001016|UMLS:C0282548|MedDRA:10024404|MESH:D018921		leukostasis (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0006831	A disorder involving the aberrant infiltration and aggregation of leukocytes into the vasculature of the body. Leukostasis is typically detected in the brain and lungs of persons with leukemia. It requires substantial ablative modalities to both reduce the number of cells present and to ensure dispersion of the aggregates.	DOID:12986|NCIT:C4062|MESH:D018921|UMLS:C0282548
MONDO:0006832	limited scleroderma	biolink:Disease	mondo	DOID:1577|EFO:1001017|SCTID:299276009|MESH:D045745|UMLS:C0748540		limited cutaneous systemic sclerosis|systemic sclerosis, limited	http://purl.obolibrary.org/obo/MONDO_0006832	The least progressive form of systemic scleroderma with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The crest syndrome is a form of limited scleroderma.	DOID:1577|MESH:D045745|UMLS:C0748540|SNOMEDCT:299276009
MONDO:0006830	leukoplakia of penis	biolink:Disease	mondo	DOID:8738|MedDRA:10024394|COHD:195009|SCTID:3323003|ICD9:607.0|NCIT:C3151|ICD10:N48.0|EFO:1001015|UMLS:C0022782		leukoplakia of the penis|kraurosis penis|penile leukoplakia|kraurosis of penis	http://purl.obolibrary.org/obo/MONDO_0006830	A precancerous condition characterized by the presence of abnormal whitish areas on the glans or prepuce of the penis. Risk factors include chronic irritation, inflammation, and infection of the penis, and poor genital hygiene.	UMLS:C0022782|NCIT:C3151|SNOMEDCT:3323003|DOID:8738
MONDO:0018819	obsolete fibular aplasia-tibial campomelia-oligosyndactyly syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018819		
MONDO:0018818	facial diplegia with paresthesias	biolink:Disease	mondo	Orphanet:480701|UMLS:CN776915	ordo_disease	facial diplegia with paresthesias variant of Guillain-BarrC) syndrome|facial diplegia with paresthesias variant of Guillain-Barré syndrome|facial diplegia with paresthesias variant of GBS	http://purl.obolibrary.org/obo/MONDO_0018818		ORPHA:480701|UMLS:CN776915
MONDO:0018826	Lewis-Sumner syndrome	biolink:Disease	mondo	MedDRA:10065580|UMLS:C1695985|GARD:0013070|ICD10:G61.8|Orphanet:48162	gard_rare|ordo_clinical_subtype	MADSAM|multifocal acquired demyelinating sensory and motor neuropathy	http://purl.obolibrary.org/obo/MONDO_0018826	Lewis-Sumner syndrome (LSS) is a rare acquired demyelinating polyneuropathy characterized by asymmetrical distal weakness of the upper or lower extremities and motor dysfunction with adult onset. It is considered to be a variant of chronic inflammatory demyelinating polyneuropathy.	ORPHA:48162|UMLS:C1695985|MEDDRA:10065580
UBERON:0001051	hypopharynx	biolink:AnatomicalEntity	mondo			laryngeal pharynx|laryngopharynx|pars laryngea pharyngis	http://purl.obolibrary.org/obo/UBERON_0001051	Bottom part of the pharynx that connects to the esophagus.	
MONDO:0018825	PYCR2-related microcephaly-progressive leukoencephalopathy	biolink:Disease	mondo	Orphanet:481152	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0018825	PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.	ORPHA:481152
MONDO:0018828	UPS18 deficiency	biolink:Disease	mondo	OMIM:617397|Orphanet:481665|UMLS:C4479376	ordo_disease	pseudo-TORCH syndrome 2; PTORCH2|PTORCH2|pseudo-TORCH syndrome 2|USP18 deficiency	http://purl.obolibrary.org/obo/MONDO_0018828		ORPHA:481665|http://identifiers.org/omim/617397|UMLS:C4479376
UBERON:0001052	rectum	biolink:AnatomicalEntity	mondo			terminal portion of large intestine|intestinum rectum|rectal sac|terminal portion of intestine	http://purl.obolibrary.org/obo/UBERON_0001052	the terminal portion of the intestinal tube, terminating with the anus	
MONDO:0018827	familial chilblain lupus	biolink:Disease	mondo	UMLS:CN776917|OMIMPS:610448|Orphanet:481662	ordo_disease	hereditary Chilblain lupus|hereditary chilblain lupus	http://purl.obolibrary.org/obo/MONDO_0018827	An instance of Chilblain lupus that is caused by an inherited modification of the individual's genome.	ORPHA:481662|UMLS:CN776917
MONDO:0018822	global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	biolink:Disease	mondo	Orphanet:480898|UMLS:CN776946	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018822	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia).	ORPHA:480898|UMLS:CN776946
MONDO:0018821	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	biolink:Disease	mondo	UMLS:CN776923|Orphanet:480880	ordo_malformation_syndrome	X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females|X-linked facial dysmorphism-short stature-choanal atrsia-intellectual disability syndrome limited to females	http://purl.obolibrary.org/obo/MONDO_0018821		ORPHA:480880|UMLS:CN776923
MONDO:0018824	pyoderma gangrenosum	biolink:Disease	mondo	ICD9:686.01|SCTID:74578003|GARD:0007510|DOID:8553|COHD:133283|Orphanet:48104|UMLS:C0085652|MedDRA:10037635|ICD10:L88|EFO:0006835|MESH:D017511	ordo_disease|gard_rare		http://purl.obolibrary.org/obo/MONDO_0018824	Pyoderma gangrenosum (PG) is a primarily sterile inflammatory neutrophilic dermatosis characterized by recurrent cutaneous ulcerations with a mucopurulent or hemorrhagic exudate.	SNOMEDCT:74578003|ORPHA:48104|MESH:D017511|DOID:8553|MEDDRA:10037635|UMLS:C0085652
MONDO:0018823	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	biolink:Disease	mondo	UMLS:CN776924|Orphanet:480907	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0018823		ORPHA:480907|UMLS:CN776924
MONDO:0018820	recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	biolink:Disease	mondo	Orphanet:480864|UMLS:CN776869	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018820	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.	ORPHA:480864|UMLS:CN776869
NCBITaxon:70426	Oxyuridomorpha	organism taxon	mondo	GC_ID:1		Oxyurida	http://purl.obolibrary.org/obo/NCBITaxon_70426		
MONDO:0006828	nasal cavity and paranasal sinus lethal midline granuloma	biolink:Disease	mondo	NCIT:C8196|ICD9:446.3|EFO:1001013|COHD:133511|ICD10:M31.2|MedDRA:10024255|MESH:D006103|DOID:9072		Midline lethal granuloma of nasal cavity and paranasal sinus|lethal midline granuloma|midfacial Necrotising lesion|Midline lethal granuloma of the nasal cavity and paranasal sinus|nasal cavity and paranasal sinus lethal Midline granuloma|malignant granuloma of face	http://purl.obolibrary.org/obo/MONDO_0006828	An aggressive, progressive, and destructive lesion affecting the nasal cavities, paranasal sinuses, and the palate. The vast majority of cases are malignant lymphoproliferations affecting the midline of the face in patients with nasal type extranodal NK/T-cell lymphoma.	NCIT:C8196|MESH:D006103|DOID:9072
MONDO:0006829	leukemoid reaction	biolink:Disease	mondo	EFO:1001014|ICD9:288.8|SCTID:56478004|MedDRA:10024373|MESH:D007955|UMLS:C0023501|COHD:432283|ICD10:D72.823|ICD9:288.62			http://purl.obolibrary.org/obo/MONDO_0006829	A hematology test result that indicates the presence of an increased white blood cell count and increased neutrophil precursors resembling leukemia, in a peripheral blood smear.	UMLS:C0023501|MESH:D007955|SNOMEDCT:56478004|NCIT:C3185
MONDO:0006848	marasmus	biolink:Disease	mondo	EFO:1001033|UMLS:C0086588|COHD:440370|ICD9:261|SCTID:29740003|DOID:12328|MedDRA:10026820|ICD10:E41		nutritional atrophy|nutritional marasmus	http://purl.obolibrary.org/obo/MONDO_0006848	The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses.	SNOMEDCT:29740003|DOID:12328|UMLS:C0086588
MONDO:0006849	mastitis	biolink:Disease	mondo	MedDRA:10026883|SCTID:45198002|DOID:10690|NCIT:C53662|UMLS:C0024894|MESH:D008413|EFO:1001034|UMLS:C0392317		inflammatory disease of breast|breast infection|inflammation of breast|breast inflammation|inflammatory breast disease	http://purl.obolibrary.org/obo/MONDO_0006849	Inflammation of breast tissue during lactation or postpartum due to an obstructed duct or infection. Mastitis can also occur in non-breastfeeding women, and rarely in men.	UMLS:C0024894|DOID:10690|SNOMEDCT:45198002|UMLS:C0392317|NCIT:C53662|MESH:D008413
MONDO:0006846	malignant hypertension	biolink:Disease	mondo	UMLS:C0020540|EFO:1001031|SCTID:70272006|MedDRA:10025600|DOID:10824|MESH:D006974|UMLS:C0745136		hypertensive emergency|accelerated-malignant hypertension|MHT|malignant phase hypertension	http://purl.obolibrary.org/obo/MONDO_0006846	Severe hypertension that is characterized by rapid onset of extremely high blood pressure.	UMLS:C0745136|MESH:D006974|SNOMEDCT:70272006|NCIT:C3118|DOID:10824|UMLS:C0020540
MONDO:0006847	malignant lymphatic vessel tumor	biolink:Disease	mondo	EFO:1001032			http://purl.obolibrary.org/obo/MONDO_0006847	Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels.	
MONDO:0006844	magnesium deficiency	biolink:Disease	mondo	SCTID:238118002|MedDRA:10025433|ICD10:E61.2|EFO:1001029|MESH:D008275|UMLS:C0024473			http://purl.obolibrary.org/obo/MONDO_0006844	A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936)	SNOMEDCT:238118002|MESH:D008275|UMLS:C0024473
MONDO:0006845	male genital tuberculosis	biolink:Disease	mondo	EFO:1001030|MedDRA:10061234|MESH:D014389|UMLS:C0041317|SCTID:240379005		Tuberculoses, Male genital|genital tuberculosis, Male|male genital tuberculosis|Male genital Tuberculoses|genital Tuberculoses, Male|male reproductive system tuberculosis	http://purl.obolibrary.org/obo/MONDO_0006845	Mycobacterium infections of the male reproductive tract (genitalia, male).	MESH:D014389|UMLS:C0041317|SNOMEDCT:240379005
MONDO:0006842	lymphangiomyoma	biolink:Disease	mondo	MESH:D008203|UMLS:C0024223|EFO:1001027|ICDO:9174/0|NCIT:C3204		lymphangioleiomyoma|lymphangiomyoma	http://purl.obolibrary.org/obo/MONDO_0006842	A neoplasm with perivascular epithelioid cell differentiation, often associated with tuberous sclerosis. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lymph nodes, lung, mediastinum, and retroperitoneum.	NCIT:C3204|MESH:D008203|UMLS:C0024223
HP:0500165	Abnormal blood oxygen level	biolink:PhenotypicFeature	mondo			Abnormal blood oxygen levels|Abnormal blood O2 level|Abnromal O2 blood concentration	http://purl.obolibrary.org/obo/HP_0500165	An abnormality of the partial pressure of oxygen in the arterial blood.	
MONDO:0006843	macular holes	biolink:Disease	mondo	UMLS:C0024441|DOID:7633|NCIT:C34795|EFO:1001028|SCTID:232006002		macular hole	http://purl.obolibrary.org/obo/MONDO_0006843	A hole in the macula of the retina.	DOID:7633|SNOMEDCT:232006002|NCIT:C34795|UMLS:C0024441
MONDO:0006840	lymphangiectasis	biolink:Disease	mondo	MESH:D008200|NCIT:C97087|EFO:1001025|GARD:0006933|UMLS:C0024214	gard_rare	lymphangiectasia	http://purl.obolibrary.org/obo/MONDO_0006840	Dilatation of the lymphatic vessels.	MESH:D008200|UMLS:C0024214|NCIT:C97087
MONDO:0006841	lymphangioendothelioma	biolink:Disease	mondo	NCIT:C3203|SCTID:403975006|EFO:1001026		acquired progressive lymphangioma	http://purl.obolibrary.org/obo/MONDO_0006841	A lymphangioma characterized by the presence of collagen bundle formation. It has an indolent clinical course and may be associated with skin plaques.	NCIT:C3203|SNOMEDCT:403975006
MONDO:0018808	Caroli syndrome	biolink:Disease	mondo	UMLS:CN776859|Orphanet:480520	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0018808		ORPHA:480520|UMLS:CN776859
MONDO:0018807	idiopathic ductopenia	biolink:Disease	mondo	Orphanet:480512|UMLS:CN244899	ordo_disease	IAD|idiopathic adult ductopenia	http://purl.obolibrary.org/obo/MONDO_0018807		UMLS:CN244899|ORPHA:480512
MONDO:0018809	idiopathic peliosis hepatis	biolink:Disease	mondo	Orphanet:480524	ordo_disease	idiopathic peliosis hepatitis	http://purl.obolibrary.org/obo/MONDO_0018809		ORPHA:480524
MONDO:0018815	aneurysmal bone cyst (disease)	biolink:Disease	mondo	SCTID:203468000|NCIT:C3516|COHD:74737|Orphanet:480553|HP:0012063|ICD9:733.22	ordo_disease	aneurysmal cyst of bone|ABC|aneurysmal cyst of the bone|aneurysmal bone cyst	http://purl.obolibrary.org/obo/MONDO_0018815	A locally aggressive and destructive benign cystic lesion of the bone. It is characterized by the formation of multiloculated hemorrhagic cystic spaces which are separated by fibrous septa. It can arise from any bone, but usually affects the metaphysis of long bones. It manifests with pain and swelling and may recur following curettage.	ORPHA:480553|SNOMEDCT:203468000|NCIT:C3516
UBERON:0001040	yolk sac	biolink:AnatomicalEntity	mondo			saccus vitellinus|vesicula umbilicalis	http://purl.obolibrary.org/obo/UBERON_0001040	A sac-like expansion of the ventral wall of the intestine, narrowed into a yolk stalk near the body[Hyman's]. Membranous sac attached to an embryo, providing early nourishment in the form of yolk in bony fishes, sharks, reptiles, birds, and primitive mammals. It functions as the developmental circulatory system of the human embryo, before internal circulation begins. In the mouse, the yolk sac is the first site of blood formation, generating primitive macrophages and erythrocytes[WP].	
MONDO:0018814	non-severe combined immunodeficiency	biolink:Disease	mondo	Orphanet:480549	ordo_group_of_disorders	non-SCID	http://purl.obolibrary.org/obo/MONDO_0018814		ORPHA:480549
UBERON:0001042	chordate pharynx	biolink:AnatomicalEntity	mondo			pharynx	http://purl.obolibrary.org/obo/UBERON_0001042	A portion of the respiratory and digestive tracts; its distal limit is the superior part of the esophagus and it connects the nasal and oral cavities with the esophagus and larynx; it contains the valleculae and the pyriform recesses; its upper limits are the nasal cavity and cranial base.[FEED].	
MONDO:0018817		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018817		
UBERON:0001041	foregut	biolink:AnatomicalEntity	mondo			proenteron|praeenteron	http://purl.obolibrary.org/obo/UBERON_0001041	Anterior subdivision of a digestive tract.	
MONDO:0018816	isolated neonatal sclerosing cholangitis	biolink:Disease	mondo	UMLS:C4479344|Orphanet:480556|OMIM:617394	ordo_disease	NSC|sclerosing cholangitis, neonatal|sclerosing cholangitis, neonatal; NSC	http://purl.obolibrary.org/obo/MONDO_0018816	Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease.	http://identifiers.org/omim/617394|ORPHA:480556|UMLS:C4479344
MONDO:0018811	congenital portosystemic shunt	biolink:Disease	mondo	Orphanet:480531	ordo_morphological_anomaly	congenital portosystemic venous fistula	http://purl.obolibrary.org/obo/MONDO_0018811	Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumours.	ORPHA:480531
MONDO:0018810	lethal hydranencephaly-diaphragmatic hernia syndrome	biolink:Disease	mondo	Orphanet:480528|UMLS:CN776878	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0018810	Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated.	ORPHA:480528|UMLS:CN776878
MONDO:0018813	high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement	biolink:Disease	mondo	Orphanet:480541	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018813		ORPHA:480541
MONDO:0018812	MSH3-related attenuated familial adenomatous polyposis	biolink:Disease	mondo	Orphanet:480536|UMLS:CN776886	ordo_clinical_subtype	MSH3-related attenuated familial polyposis coli|MSH3-related AFAP|MSH3-related attenuated FAP	http://purl.obolibrary.org/obo/MONDO_0018812		ORPHA:480536|UMLS:CN776886
UBERON:0001048	primordium	biolink:AnatomicalEntity	mondo			future organ|primordia|placode|bud|rudiment	http://purl.obolibrary.org/obo/UBERON_0001048	Primordia are populations of contiguous cells that are morphologically distinct and already correspond in extent to a later organ/tissue[FBbt, Hartenstein, V. (2004)].	
UBERON:0001049	neural tube	biolink:AnatomicalEntity	mondo			presumptive central nervous system|tubus neuralis|neural primordium	http://purl.obolibrary.org/obo/UBERON_0001049	In the developing vertebrate, the neural tube is the embryo's precursor to the central nervous system, which comprises the brain and spinal cord. The neural groove gradually deepens as the neural folds become elevated, and ultimately the folds meet and coalesce in the middle line and convert the groove into a closed tube, the neural tube or neural canal (which strictly speaking is the center of the neural tube), the ectodermal wall of which forms the rudiment of the nervous system. [WP,unvetted].	
UBERON:0001044	saliva-secreting gland	biolink:AnatomicalEntity	mondo			glandulae salivariae|salivary gland	http://purl.obolibrary.org/obo/UBERON_0001044	saliva-secreting exocrine glands of the oral cavity[GO]	
UBERON:0001043	esophagus	biolink:AnatomicalEntity	mondo			oesophagus|gullet	http://purl.obolibrary.org/obo/UBERON_0001043	Tube that connects the pharynx to the stomach. In mammals, the oesophagus connects the buccal cavity with the stomach. The stratified squamous non-keratinised epithelium lining the buccal cavity is continued through the pharynx down into the oesophagus. The lowest part of the oesophagus (ca. 2 cm) is lined with gastric mucosa and covered by peritoneum. The main body of the oesophagus is lined with small, simple mucous glands. Each gland opens into the lumen by a long duct which pierces the muscularis mucosae (Wilson and Washington, 1989). A sphincter is situated at the point where the oesophagus enters the stomach to prevent gastro-oesophageal reflux, i.e. to prevent acidic gastric contents from reaching stratified epithelia of the oesophagus, where they can cause inflammation and irritation (Wilson and Washington, 1989; Brown et al., 1993).	
MONDO:0006839	Lutembacher syndrome	biolink:Disease	mondo	EFO:1001024|DOID:1998|UMLS:C0024164|MESH:D008185|SCTID:204319006		syndrome, Lutembacher|syndrome, Lutembacher's|Lutembacher's anomaly|Lutembacher syndrome|Lutembacher's syndrome|Lutembachers syndrome	http://purl.obolibrary.org/obo/MONDO_0006839	A condition characterized by a combination of ostium secundum atrial septal defect and an acquired mitral valve stenosis.	UMLS:C0024164|SNOMEDCT:204319006|DOID:1998|MESH:D008185
UBERON:0001046	hindgut	biolink:AnatomicalEntity	mondo			metenteron	http://purl.obolibrary.org/obo/UBERON_0001046	The caudalmost subdivision of a digestive tract.	
UBERON:0001045	midgut	biolink:AnatomicalEntity	mondo			mesenteron	http://purl.obolibrary.org/obo/UBERON_0001045	Middle subdivision of a digestive tract[CJM]. In vertebrates: The middle part of the alimentary canal from the stomach, or entrance of the bile duct, to, or including, the large intestine[GO].	
UBERON:0005908	conjunctival sac	biolink:AnatomicalEntity	mondo			subbrillar sac|conjunctiva serous sac	http://purl.obolibrary.org/obo/UBERON_0005908	A serous sac which is the aggregate of the conjunctiva plus the conjunctival space	
UBERON:0005906	serous sac	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005906	Organ with organ cavity, which has as parts a serous membrane and a serous cavity . Examples: pleural sac, pericardial sac, tendon sheath, bursa.[FMA]	
UBERON:0005904	duct of male reproductive system	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005904	Any of the ducts that are part of a male reproductive system.	
UBERON:0005903	duct of seminal vesicle	biolink:AnatomicalEntity	mondo			ductus excretorius glandulae vesiculosae|excretory duct of seminal gland|seminal vesicle duct|ductus excretorius (vesicula seminalis)|ductus excretorius glandulae vesiculosae	http://purl.obolibrary.org/obo/UBERON_0005903	Each seminal vesicle consists of a single tube, coiled upon itself, and giving off several irregular cecal diverticula; the separate coils, as well as the diverticula, are connected together by fibrous tissue. When uncoiled, the tube is about the diameter of a quill, and varies in length from 10 to 15 cm.; it ends posteriorly in a cul-de-sac; its anterior extremity becomes constricted into a narrow straight duct called the excretory duct of seminal gland (or duct of the seminal vesicle), which joins with the corresponding ductus deferens to form the ejaculatory duct[WP].	
UBERON:0005902	occipital region	biolink:AnatomicalEntity	mondo			basicranial region|occipital region of head|occipital part of head|back of head	http://purl.obolibrary.org/obo/UBERON_0005902	Anatomical cluster that is located in the posterior region of the cranium and forms the margin of the foramen magnum and occipital condyles.	
UBERON:0005911	endo-epithelium	biolink:AnatomicalEntity	mondo			endoepithelium|endoderm-derived epithelium	http://purl.obolibrary.org/obo/UBERON_0005911	Epithelium that derives from the endoderm. Examples: urothelium, transitional epithelium of ureter, epithelium of prostatic gland.[FMA]	
NCBITaxon:1980418	Phenuiviridae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1980418		
NCBITaxon:1980416	Peribunyaviridae	organism taxon	mondo	GC_ID:1		Bunyaviridae	http://purl.obolibrary.org/obo/NCBITaxon_1980416		
NCBITaxon:1980410	Bunyavirales	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1980410		
NCBITaxon:1980415	Nairoviridae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1980415		
NCBITaxon:1980413	Hantaviridae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1980413		
NCBITaxon:92088	Trombiculoidea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_92088		
GO:0008544	epidermis development	biolink:OntologyClass	mondo			hypodermis development	http://purl.obolibrary.org/obo/GO_0008544	The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species.	
UBERON:2001626	premaxillary tooth	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_2001626	Tooth that is attached to the premaxilla.	
GO:0033500	carbohydrate homeostasis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0033500	A homeostatic process involved in the maintenance of an internal steady state of a carbohydrate within an organism or cell.	
HGNC:1802	CDSN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1802		
GO:0045541	negative regulation of cholesterol biosynthetic process	biolink:OntologyClass	mondo			negative regulation of cholesterol anabolism|negative regulation of cholesterol synthesis|downregulation of cholesterol biosynthetic process|negative regulation of cholesterol formation|down regulation of cholesterol biosynthetic process|inhibition of cholesterol biosynthetic process|negative regulation of cholesterol biosynthesis|down-regulation of cholesterol biosynthetic process	http://purl.obolibrary.org/obo/GO_0045541	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cholesterol.	
HGNC:1809	CDY1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1809		
GO:0045542	positive regulation of cholesterol biosynthetic process	biolink:OntologyClass	mondo			positive regulation of cholesterol biosynthesis|positive regulation of cholesterol synthesis|up regulation of cholesterol biosynthetic process|stimulation of cholesterol biosynthetic process|positive regulation of cholesterol formation|up-regulation of cholesterol biosynthetic process|activation of cholesterol biosynthetic process|upregulation of cholesterol biosynthetic process|positive regulation of cholesterol anabolism	http://purl.obolibrary.org/obo/GO_0045542	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cholesterol.	
GO:0045540	regulation of cholesterol biosynthetic process	biolink:OntologyClass	mondo			regulation of cholesterol anabolism|regulation of cholesterol biosynthesis|regulation of cholesterol synthesis|regulation of cholesterol formation	http://purl.obolibrary.org/obo/GO_0045540	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cholesterol.	
NCBITaxon:1280412	Conoidasida	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1280412		
HGNC:1810	CDY2A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1810		
UBERON:0005946	outflow tract of atrium	biolink:AnatomicalEntity	mondo			outflow part of atrium	http://purl.obolibrary.org/obo/UBERON_0005946	An outflow tract that is part of a cardiac atrium.	
UBERON:0005956	outflow part of left ventricle	biolink:AnatomicalEntity	mondo			outflow tract of left ventricle|aortic vestibule|LVOT|vestibulum aortae|Sibson vestibule|left ventricular outflow tract|left ventricular outflow|heart left ventricle outflow tract	http://purl.obolibrary.org/obo/UBERON_0005956	Anterosuperior fibrous portion of the left ventricle that connects to the ascending aorta.	
CHEBI:71392	tetracycline(1-)	biolink:ChemicalSubstance	mondo			tetracycline anion|(1S,4aS,11S,11aS,12aS)-3-carbamoyl-1-(dimethylazaniumyl)-4a,7,11-trihydroxy-11-methyl-4,6-dioxo-1,4,4a,6,11,11a,12,12a-octahydrotetracene-2,5-diolate	http://purl.obolibrary.org/obo/CHEBI_71392	An organic anion that is the conjugate base of tetracycline obtained by deprotonation of the two enolic hydroxy groups and protonation of the tertiary amino group.	
UBERON:0005953	outflow part of right ventricle	biolink:AnatomicalEntity	mondo			right ventricle pulmonary outflow tract|pulmonary conus|pulmonary cone|right ventricular outflow tract|arterial cone|RVOT|infundibulum|conus arteriosus|conus arteriosus (infundibulum)|pulmonary conus|outflow tract of right ventricle|infundibulum of right ventricle	http://purl.obolibrary.org/obo/UBERON_0005953	Anteriosuperior, smooth-walled portion of the cavity of the right ventricle, beginning at the supraventricular crest and terminating in the pulmonary trunk	
GO:0070507	regulation of microtubule cytoskeleton organization	biolink:OntologyClass	mondo			regulation of microtubule dynamics|regulation of microtubule cytoskeleton organisation	http://purl.obolibrary.org/obo/GO_0070507	Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins.	
NCBITaxon:1652081	Poeae Chloroplast Group 2 (Poeae type)	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1652081		
UBERON:0005945	neurocranial trabecula	biolink:AnatomicalEntity	mondo			trabecula|neurocranial trabeculae|trabecular cartilage	http://purl.obolibrary.org/obo/UBERON_0005945		
UBERON:0005944	axial skeleton plus cranial skeleton	biolink:AnatomicalEntity	mondo			skeleton axiale	http://purl.obolibrary.org/obo/UBERON_0005944	Subdivision of skeleton which consists of cranial skeleton, set of all vertebrae, set of all ribs and sternum[FMA, modified].	
HGNC:1838	CECR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1838		
GO:0008509	anion transmembrane transporter activity	biolink:OntologyClass	mondo			anion transporter activity	http://purl.obolibrary.org/obo/GO_0008509	Enables the transfer of a negatively charged ion from one side of a membrane to the other.	
HGNC:1839	ADA2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1839		
HGNC:1836	CEBPE	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1836		
UBERON:0005928	external naris	biolink:AnatomicalEntity	mondo			blowhole|nostril|anterior nares|naris|anterior naris|external nares	http://purl.obolibrary.org/obo/UBERON_0005928	A naris that provides one of the small external openings of the head that give passage to air for breathing.	
HGNC:1833	CEBPA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1833		
GO:0045578	negative regulation of B cell differentiation	biolink:OntologyClass	mondo			down regulation of B cell differentiation|inhibition of B cell differentiation|negative regulation of B cell development|down-regulation of B cell differentiation|negative regulation of B-cell differentiation|negative regulation of B lymphocyte differentiation|negative regulation of B-lymphocyte differentiation|downregulation of B cell differentiation	http://purl.obolibrary.org/obo/GO_0045578	Any process that stops, prevents, or reduces the frequency, rate or extent of B cell differentiation.	
GO:0045579	positive regulation of B cell differentiation	biolink:OntologyClass	mondo			positive regulation of B-lymphocyte differentiation|upregulation of B cell differentiation|positive regulation of B cell development|stimulation of B cell differentiation|up regulation of B cell differentiation|positive regulation of B-cell differentiation|positive regulation of B lymphocyte differentiation|activation of B cell differentiation|up-regulation of B cell differentiation	http://purl.obolibrary.org/obo/GO_0045579	Any process that activates or increases the frequency, rate or extent of B cell differentiation.	
GO:0045576	mast cell activation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0045576	The change in morphology and behavior of a mast cell resulting from exposure to a cytokine, chemokine, soluble factor, or to (at least in mammals) an antigen which the mast cell has specifically bound via IgE bound to Fc-epsilonRI receptors.	
GO:0045577	regulation of B cell differentiation	biolink:OntologyClass	mondo			regulation of B-cell differentiation|regulation of B lymphocyte differentiation|regulation of B-lymphocyte differentiation|regulation of B cell development	http://purl.obolibrary.org/obo/GO_0045577	Any process that modulates the frequency, rate or extent of B cell differentiation.	
MONDO:0041086	mixed anxiety and depressive disorder	biolink:Disease	mondo	SCTID:231504006		mixed anxiety and depressive disorder|anxiety depression	http://purl.obolibrary.org/obo/MONDO_0041086		SNOMEDCT:231504006
CHEBI:58315	L-tyrosine zwitterion	biolink:ChemicalSubstance	mondo			L-tyrosine|(2S)-2-ammonio-3-(4-hydroxyphenyl)propanoate|(2S)-2-azaniumyl-3-(4-hydroxyphenyl)propanoate	http://purl.obolibrary.org/obo/CHEBI_58315	An amino acid zwitterion arising from transfer of a proton from the carboxy to the amino group of L-tyrosine; major species at pH 7.3.	
GO:0045581	negative regulation of T cell differentiation	biolink:OntologyClass	mondo			inhibition of T cell differentiation|negative regulation of T cell development|down-regulation of T cell differentiation|negative regulation of T-cell differentiation|negative regulation of T lymphocyte differentiation|negative regulation of T-lymphocyte differentiation|downregulation of T cell differentiation|down regulation of T cell differentiation	http://purl.obolibrary.org/obo/GO_0045581	Any process that stops, prevents, or reduces the frequency, rate or extent of T cell differentiation.	
GO:0045582	positive regulation of T cell differentiation	biolink:OntologyClass	mondo			upregulation of T cell differentiation|positive regulation of T cell development|up regulation of T cell differentiation|stimulation of T cell differentiation|positive regulation of T-cell differentiation|positive regulation of T lymphocyte differentiation|up-regulation of T cell differentiation|activation of T cell differentiation|positive regulation of T-lymphocyte differentiation	http://purl.obolibrary.org/obo/GO_0045582	Any process that activates or increases the frequency, rate or extent of T cell differentiation.	
MONDO:0041093	central retinal vein occlusion with macular edema	biolink:Disease	mondo	SCTID:232039004		central retinal vein occlusion with macular edema	http://purl.obolibrary.org/obo/MONDO_0041093		SNOMEDCT:232039004
MONDO:0041095	malignant otitis externa caused by Pseudomonas aeruginosa	biolink:Disease	mondo	UMLS:C0395818|SCTID:232230009		malignant otitis externa caused by Pseudomonas aeruginosa|malignant otitis externa due to Pseudomonas aeruginosa|Pseudomonas aeruginosa caused malignant otitis externa|Pseudomonas aeruginosa malignant otitis externa	http://purl.obolibrary.org/obo/MONDO_0041095	An malignant otitis externa caused by infection with Pseudomonas aeruginosa.	UMLS:C0395818|SNOMEDCT:232230009
GO:0045580	regulation of T cell differentiation	biolink:OntologyClass	mondo			regulation of T-cell differentiation|regulation of T lymphocyte differentiation|regulation of T-lymphocyte differentiation|regulation of T cell development	http://purl.obolibrary.org/obo/GO_0045580	Any process that modulates the frequency, rate or extent of T cell differentiation.	
HGNC:1848	CEL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1848		
GO:0008514	organic anion transmembrane transporter activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0008514	Enables the transfer of organic anions from one side of a membrane to the other. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage.	
UBERON:0005913	zone of bone organ	biolink:AnatomicalEntity	mondo			bone organ zone	http://purl.obolibrary.org/obo/UBERON_0005913		
MONDO:0016060	laryngotracheoesophageal cleft	biolink:Disease	mondo	Orphanet:2004|MESH:C537875|GARD:0003188|ICD10:Q32.1|NCIT:C98622|SCTID:232461002	ordo_morphological_anomaly	congenital cleft larynx|laryngo-tracheo-esophageal diastema|laryngeal cleft|Larnygeotracheoesophageal cleft|laryngo-tracheo-esophageal cleft|tracheal cleft|LC|LTEC	http://purl.obolibrary.org/obo/MONDO_0016060	A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus.	SNOMEDCT:232461002|MESH:C537875|NCIT:C98622|ORPHA:2004
MONDO:0016061	immunodeficiency with factor H anomaly	biolink:Disease	mondo	Orphanet:200421|ICD10:D84.1	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016061		ORPHA:200421
MONDO:0016062	median cleft lip/mandibule	biolink:Disease	mondo	Orphanet:2006|SCTID:723383005|ICD10:Q36.1	ordo_morphological_anomaly	median cleft lower facial stage	http://purl.obolibrary.org/obo/MONDO_0016062	Midline cleft of lower lip is a rare anomaly defined as Cleft No. 30 in Tessier's classification.	ORPHA:2006|SNOMEDCT:723383005
MONDO:0004078	mucinous intrahepatic cholangiocarcinoma	biolink:Disease	mondo	NCIT:C41618|UMLS:C1513718|DOID:7024		mucin-producing intrahepatic cholangiocarcinoma|mucinous intrahepatic cholangiocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004078	An intrahepatic cholangiocarcinoma that produces abundant mucin.	NCIT:C41618|UMLS:C1513718|DOID:7024
MONDO:0004077	lumbosacral lipoma	biolink:Disease	mondo	NCIT:C6500|UMLS:C1334438|DOID:7017		lipoma of sacral region of vertebral column|sacral region of vertebral column lipoma	http://purl.obolibrary.org/obo/MONDO_0004077	A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within the lumbosacral tissue of the spine.	NCIT:C6500|DOID:7017|UMLS:C1334438
MONDO:0004079	lung mucous gland adenoma	biolink:Disease	mondo	DOID:7030|NCIT:C5664|UMLS:C1332640		bronchial mucus gland adenoma|lung mucous gland adenoma|adenoma of bronchial mucous gland|adenoma of bronchial mucus gland|adenoma of the bronchial mucous gland|bronchial cystadenoma|adenoma of the bronchial mucus gland|lung polyadenoma	http://purl.obolibrary.org/obo/MONDO_0004079	A benign adenomatous neoplasm that arises from the mucous glands in the bronchus.	UMLS:C1332640|NCIT:C5664|DOID:7030
MONDO:0004074	ovarian mucinous cystadenofibroma	biolink:Disease	mondo	UMLS:C1518725|NCIT:C40041|DOID:7013		ovarian mucinous cystadenofibroma	http://purl.obolibrary.org/obo/MONDO_0004074	A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma.	UMLS:C1518725|DOID:7013|NCIT:C40041
MONDO:0004073	obsolete dentin dysplasia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004073		
MONDO:0004076	tendon sheath lipoma	biolink:Disease	mondo	UMLS:C1336703|DOID:7016|NCIT:C6499		lipoma of tendon sheath|lipoma of the tendon sheath|tendon sheath lipoma	http://purl.obolibrary.org/obo/MONDO_0004076	A benign tumor, composed of mature adipocytes, that arises within the tendon sheath.	NCIT:C6499|UMLS:C1336703|DOID:7016
MONDO:0043683	Leriche syndrome	biolink:Disease	mondo	MESH:D007925|NCIT:C34773|UMLS:C0023370|SCTID:307816004		syndrome, Leriche|Leriche syndrome|syndrome, Leriche's|Leriche's syndrome|leriche's syndrome|Leriches syndrome	http://purl.obolibrary.org/obo/MONDO_0043683	An atherosclerotic disorder of the peripheral vascular system affecting mostly males in their later decades. It is caused by thrombotic occlusion of the abdominal aorta just above the level of the bifurcation. Clinical signs include impotence, intermittent claudication, diminished femoral pulses and cold, pallid lower extremities. Prognosis is favorable with surgical or endovascular intervention.	UMLS:C0023370|MESH:D007925|SNOMEDCT:307816004|NCIT:C34773
MONDO:0004075	infiltrating lipoma	biolink:Disease	mondo	UMLS:C0334473|NCIT:C7451|DOID:7014		intramuscular lipoma|intramuscular lipoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0004075	A benign tumor, composed of lobules of mature adipocytes, that penetrates the surrounding tissue from which it arises. There is usually a higher local recurrence rate when compared with non-infiltrating lipomas.	NCIT:C7451|DOID:7014|UMLS:C0334473
CHEBI:61951	microtubule-destabilising agent	biolink:ChemicalSubstance	mondo			microtubule destabilising agents|microtubule destabilizing role|microtubule destabilising agent|microtubule-destabilising agents|microtubule-destabilizing agent|microtubule destabilising role|microtubule-destabilizing agents	http://purl.obolibrary.org/obo/CHEBI_61951	Any substance that interacts with tubulin to inhibit polymerisation of microtubules.	
MONDO:0004070	obsolete gemistocytic astrocytoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004070		
MONDO:0004072	obsolete protoplasmic astrocytoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004072		
MONDO:0004071	childhood cerebral astrocytoma	biolink:Disease	mondo	DOID:7007|UMLS:C0338070|NCIT:C4347|GARD:0009302	gard_rare	pediatric astrocytoma of the cerebrum|cerebral astrocytoma, childhood|childhood astrocytic tumor of telencephalon|telencephalon juvenile astrocytoma|pediatric astrocytoma of cerebrum|pediatric cerebral astrocytoma|cerebral astrocytoma|childhood astrocytoma of cerebrum|childhood astrocytoma of the cerebrum|telencephalon childhood astrocytic tumor	http://purl.obolibrary.org/obo/MONDO_0004071	An astrocytoma, without designation of benign or malignant, that is found in the supratentorial region. The infratentorial location is more common in children.	UMLS:C0338070|NCIT:C4347|DOID:7007
MONDO:0043678	chromosome inversion	biolink:Disease	mondo	MESH:D007446|NCIT:C6827		chromosomal Inversions|chromosome Inversions|chromosomal inversion|Inversions, chromosomal|inversion, chromosomal|inversion, chromosome|inverted chromosome|inversion|Inversions, chromosome|inv	http://purl.obolibrary.org/obo/MONDO_0043678	A type of chromosome rearrangement in which a segment has been turned through 180 degrees (inverted), and inserted back into its original location on the chromosome.	MESH:D007446|NCIT:C6827
MONDO:0016067	Crandall syndrome	biolink:Disease	mondo	Orphanet:202|GARD:0001561|UMLS:C0432348|SCTID:278098005|ICD9:704.8	gard_rare|ordo_disease	alopecia-deafness-hypogonadism syndrome|alopecia deafness hypogonadism|alopecia-sensorineural deafness-hypogonadism syndrome	http://purl.obolibrary.org/obo/MONDO_0016067	This syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Bjrnstad's syndrome that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder.	ORPHA:202|SNOMEDCT:278098005|UMLS:C0432348
MONDO:0016068	fibrochondrogenesis	biolink:Disease	mondo	ICD10:Q77.7|DOID:0060465|Orphanet:2021|GARD:0002321|OMIMPS:228520|MESH:C562524|SCTID:17144009	gard_rare|ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016068	Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.	UMLS:C0265282|SNOMEDCT:17144009|DOID:0060465|MESH:C562524|ORPHA:2021
MONDO:0016069		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016069		
MONDO:0016063	Cowden disease	biolink:Disease	mondo	MESH:D006223|GARD:0006202|ICD10:Q85.8|Orphanet:201|DOID:6457|OMIMPS:158350|UMLS:C0018553|SCTID:58037000|MedDRA:10051906|NCIT:C3076	ordo_disease	dysplastic gangliocytoma of cerebellum|Cowden disease|Cowden syndrome|MHAM|Lhermitte-Duclos disease|Cowden's disease|multiple hamartoma syndrome|CD|PTEN hamartoma syndrome	http://purl.obolibrary.org/obo/MONDO_0016063		ORPHA:201|SNOMEDCT:58037000|MEDDRA:10051906|MESH:D006223|UMLS:C0018553|NCIT:C3076|DOID:6457
MONDO:0016064	cleft palate	biolink:Disease	mondo	ICD10:Q35.7|COHD:135923|ICD10:Q35.5|SCTID:63567004|ICD9:749.00|MedDRA:10009269|ICD10:Q35.3|Orphanet:2014|ICD10:Q35.9|ICD10:Q35.1|DOID:674|ICD9:749.0|MESH:D002972|ICD10:Q35|NCIT:C87069|UMLS:C0008925	ordo_group_of_disorders	cleft velum|palatoschisis|uranostaphyloschisis	http://purl.obolibrary.org/obo/MONDO_0016064	Cleft palate is a fissure type embryopathy that affects the soft and hard palate to varying degrees.	MESH:D002972|DOID:674|NCIT:C87069|UMLS:C0008925|MEDDRA:10009269|ORPHA:2014|SNOMEDCT:63567004
MONDO:0016065	cleft palate-short stature-vertebral anomalies syndrome	biolink:Disease	mondo	SCTID:719466009|UMLS:CN200784|Orphanet:2015|GARD:0001392|ICD10:Q87.0	ordo_malformation_syndrome|gard_rare	cleft palate short stature vertebral anomalies|Mathieu-De Broca-Bony syndrome	http://purl.obolibrary.org/obo/MONDO_0016065	Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993.	UMLS:CN200784|SNOMEDCT:719466009|ORPHA:2015
MONDO:0016066	sternal cleft	biolink:Disease	mondo	SCTID:54008006|MESH:C537489|Orphanet:2017|UMLS:C2931507|ICD9:756.3|ICD10:Q76.7|GARD:0005012	ordo_group_of_disorders|gard_rare	cleft sternum|congenital sternal cleft|sternum bifidum	http://purl.obolibrary.org/obo/MONDO_0016066	Sternal cleft (SC) is a rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated.	MESH:C537489|UMLS:C0265696|UMLS:C2931507|ORPHA:2017|SNOMEDCT:54008006
MONDO:0016050	thiamine-responsive encephalopathy	biolink:Disease	mondo	Orphanet:199348|SCTID:723557004	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016050	Thiamine-responsive encephalopathy is a Wernicke-like encephalopathy characterized by seizures responsive to high doses of thiamine.	SNOMEDCT:723557004|ORPHA:199348
MONDO:0016051	cleft lip-retinopathy syndrome	biolink:Disease	mondo	MESH:C538272|Orphanet:1995|ICD10:Q87.8|UMLS:C2931789|GARD:0000435	ordo_malformation_syndrome	Ausems-Wittebol Post-Hennekam syndrome|cleft lip-progressive retinopathy syndrome|Ausems Wittebol-Post Hennekam syndrome|cleft lip with progressive retinopathy|cleft lip-cone rod dystrophy syndrome	http://purl.obolibrary.org/obo/MONDO_0016051	Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy.	ORPHA:1995|UMLS:C2931789|MESH:C538272
MONDO:0004089	basaloid carcinoma of the penis	biolink:Disease	mondo	UMLS:C1332462|ONCOTREE:BPSCC|NCIT:C6980|DOID:7047		penis basaloid squamous cell carcinoma|basaloid penile squamous cell carcinoma|squamous cell carcinoma of penis, basaloid type|basaloid carcinoma of the penis|basaloid carcinoma of penis|BPSCC|basaloid squamous cell carcinoma of the penis|basaloid squamous cell carcinoma of penis|squamous cell carcinoma of the penis, basaloid type|penis basaloid carcinoma	http://purl.obolibrary.org/obo/MONDO_0004089	An aggressive, human papillomavirus-related squamous cell carcinoma that arises from the penis. It is characterized by the presence of nests of small malignant cells. The malignant cells tend to invade deeply into the adjacent tissues. Comedo-type necrosis is often present.	UMLS:C1332462|NCIT:C6980|DOID:7047
MONDO:0004088	cervical basaloid carcinoma	biolink:Disease	mondo	DOID:7046|NCIT:C40189|UMLS:C1511063		cervical basaloid squamous cell carcinoma|cervical basaloid carcinoma	http://purl.obolibrary.org/obo/MONDO_0004088	An aggressive variant of cervical squamous cell carcinoma characterized by the presence of nests of malignant basaloid squamous cells with scant amount of cytoplasm.	UMLS:C1511063|DOID:7046|NCIT:C40189
HP:0030222	Visual agnosia	biolink:PhenotypicFeature	mondo	MSH:D000377|SNOMEDCT_US:25762009|UMLS:C0234502			http://purl.obolibrary.org/obo/HP_0030222	Difficulty in recognizing objects by visual input in absence of sensorial visual impairment.	
MONDO:0004085	choroid epithelioid cell melanoma	biolink:Disease	mondo	NCIT:C6102|UMLS:C1333024|DOID:7041		optic choroid epithelioid cell melanoma|epithelioid cell melanoma of the choroid|epithelioid cell melanoma of optic choroid|epithelioid cell melanoma of choroid|choroid epithelioid cell melanoma|choroidal epithelioid cell melanoma	http://purl.obolibrary.org/obo/MONDO_0004085	A epithelioid cell melanoma that involves the optic choroid.	NCIT:C6102|DOID:7041|UMLS:C1333024
MONDO:0043693	alcoholic liver diseases	biolink:Disease	mondo	EFO:0008573|SCTID:41309000|NCIT:C34783|MESH:D008108		liver disease, alcoholic|alcoholic liver damage|alcoholic liver disease|alcoholic liver diseases	http://purl.obolibrary.org/obo/MONDO_0043693	A disorder caused by damage to the liver parenchyma due to alcohol consumption. It may present with an acute onset or follow a chronic course, leading to cirrhosis.	MESH:D008108|NCIT:C34783|SNOMEDCT:41309000
MONDO:0004084	obsolete uveal epithelioid cell melanoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004084		
MONDO:0004087	basaloid large cell lung carcinoma	biolink:Disease	mondo	NCIT:C7266|ONCOTREE:BLCLC|DOID:7045|UMLS:C1332463		basaloid large cell lung carcinoma|basaloid lung carcinoma|basaloid large cell carcinoma of the lung	http://purl.obolibrary.org/obo/MONDO_0004087	A morphologic variant of large cell lung carcinoma characterized by the presence of a solid nodular or anastomotic trabecular growth pattern, peripheral palisading, and comedo type necrosis.	UMLS:C1332463|NCIT:C7266|DOID:7045
MONDO:0004086	ciliary body epithelioid cell melanoma	biolink:Disease	mondo	NCIT:C6119|UMLS:C1333050|DOID:7042		ciliary body epithelioid cell melanoma|epithelioid cell melanoma of ciliary body|epithelioid cell melanoma of the ciliary body	http://purl.obolibrary.org/obo/MONDO_0004086	A epithelioid cell melanoma that involves the ciliary body.	NCIT:C6119|DOID:7042|UMLS:C1333050
MONDO:0004081	extrahepatic bile duct clear cell adenocarcinoma	biolink:Disease	mondo	NCIT:C5775|UMLS:C0861855|DOID:7032		bile duct clear cell carcinoma|clear cell bile duct adenocarcinoma|clear cell adenocarcinoma of the bile duct|clear cell adenocarcinoma of bile duct|bile duct clear cell adenocarcinoma|extrahepatic bile duct clear cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004081	A morphologic variant of extrahepatic bile duct adenocarcinoma characterized by the presence of malignant glandular epithelium composed of clear cells.	NCIT:C5775|DOID:7032|UMLS:C0861855
MONDO:0004080	glottis squamous cell carcinoma	biolink:Disease	mondo	UMLS:C0280325|DOID:7031|NCIT:C8186		epidermoid carcinoma of glottis|glottis epidermoid carcinoma|glottic squamous cell carcinoma|glottic epidermoid carcinoma|squamous cell carcinoma of glottis|squamous cell carcinoma of the glottis|glottis squamous cell carcinoma|epidermoid carcinoma of the glottis	http://purl.obolibrary.org/obo/MONDO_0004080	A squamous cell carcinoma of the larynx that arises from the glottic area. It may remain localized for a long period then in late disease stage, it may spread to the opposite true vocal cord, supraglottic and subglottic areas, and the soft tissues of the neck. Hoarseness is the presenting symptom.	UMLS:C0280325|DOID:7031|NCIT:C8186
MONDO:0004083	Borst-Jadassohn intraepidermal carcinoma	biolink:Disease	mondo	UMLS:C0334260|DOID:7039|SCTID:403886007|ICDO:8096/0|EFO:1001841|NCIT:C4110|UMLS:C2937231		Bowen's disease, clonal|intraepidermal epithelioma of Jadassohn	http://purl.obolibrary.org/obo/MONDO_0004083	A rare cutaneous lesion presenting as a scaly verrucous plaque. Morphologically, the plaque contains nests of basaloid cells.	SNOMEDCT:403886007|NCIT:C4110|UMLS:C0334260|DOID:7039|UMLS:C2937231
MONDO:0004082	childhood immature teratoma of ovary	biolink:Disease	mondo	DOID:7037|UMLS:C1332990|NCIT:C6547		childhood ovarian immature teratoma|pediatric immature teratoma of the ovary|childhood immature ovarian teratoma|immature ovarian teratoma of childhood|pediatric ovarian immature teratoma|pediatric immature teratoma of ovary|childhood immature teratoma of the ovary|pediatric immature ovarian teratoma|pediatric immature ovarian teratoma	http://purl.obolibrary.org/obo/MONDO_0004082	An immature teratoma that arises from the ovary and occurs in children.	UMLS:C1332990|NCIT:C6547|DOID:7037
HP:0005257	Thoracic hypoplasia	biolink:PhenotypicFeature	mondo	UMLS:C1837482		Small chest|Small thorax	http://purl.obolibrary.org/obo/HP_0005257		
MONDO:0016056	isolated congenital microcephaly	biolink:Disease	mondo	ICD10:Q02|MedDRA:10027534|Orphanet:199642|DOID:0070297|GARD:0007038	ordo_malformation_syndrome	true microcephaly|microcephaly, primary|primary microcephaly	http://purl.obolibrary.org/obo/MONDO_0016056		UMLS:C0025958|ORPHA:199642|MEDDRA:10027534|DOID:0070297
MONDO:0016057	isolated encephalocele	biolink:Disease	mondo	Orphanet:199647|ICD10:Q01.9|ICD10:Q01.8|ICD10:Q01.2|ICD10:Q01.0|GARD:0006333|MedDRA:10014617|ICD10:Q01.1	ordo_morphological_anomaly	cranium bifidum|bifid cranium|craniocele|encephalocele	http://purl.obolibrary.org/obo/MONDO_0016057	Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur.	ORPHA:199647|MEDDRA:10014617|MESH:D004677
MONDO:0016058	paroxysmal dystonia	biolink:Disease	mondo	ICD9:333.99|Orphanet:200037|SCTID:230310003	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016058		ORPHA:200037|SNOMEDCT:230310003
MONDO:0016059	cleft lip/palate-deafness-sacral lipoma syndrome	biolink:Disease	mondo	Orphanet:2003|ICD10:Q87.8|SCTID:716007007|UMLS:CN200748	ordo_malformation_syndrome	Lowry-Yong syndrome	http://purl.obolibrary.org/obo/MONDO_0016059	Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive.	SNOMEDCT:716007007|ORPHA:2003|UMLS:CN200748
MONDO:0016052	atypical autism	biolink:Disease	mondo	ICD10:F84.1|SCTID:231536004|ICD9:299.80|MedDRA:10003747|Orphanet:199627	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016052	Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. '	SNOMEDCT:231536004|UMLS:C0338986|ORPHA:199627|MEDDRA:10003747
MONDO:0016053	isolated cerebellar vermis hypoplasia	biolink:Disease	mondo	ICD10:Q04.3|Orphanet:199630|SCTID:766709000	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0016053	Isolated cerebellar vermis hypoplasia is a rare, non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms.	ORPHA:199630|SNOMEDCT:766709000
MONDO:0016054	cerebral malformation	biolink:Disease	mondo	Orphanet:199633	ordo_group_of_disorders	brain malformation	http://purl.obolibrary.org/obo/MONDO_0016054		ORPHA:199633
MONDO:0016055	syndrome with corpus callosum agenesis /dysgenesis as a major feature	biolink:Disease	mondo	UMLS:CN200739|Orphanet:199639	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016055		UMLS:CN200739|ORPHA:199639
MONDO:0016040	harlequin syndrome	biolink:Disease	mondo	ICD10:G90.8|UMLS:C2029348|ICD9:705.89|GARD:0008610|Orphanet:199282|SCTID:14070001000004105|MESH:C535634	ordo_disease|gard_rare	sudden onset of unilateral flushing and sweating|progressive isolated segmental anhidrosis|unilateral loss of facial flushing and sweating with contralateral anhidrosis	http://purl.obolibrary.org/obo/MONDO_0016040	Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress without sympathetic ocular manifestations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur.	SNOMEDCT:14070001000004105|MESH:C535634|ORPHA:199282|UMLS:C2029348
MONDO:0004059	dentin sensitivity	biolink:Disease	mondo	SCTID:13468005|UMLS:C0011432|MESH:D003807|DOID:698		sensitive dentin	http://purl.obolibrary.org/obo/MONDO_0004059	Pain or discomfort caused by exposure of the dentin layer of tooth to thermal, tactile, or other stimuli.	MESH:D003807|SNOMEDCT:13468005|DOID:698|NCIT:C50778|UMLS:C0011432
MONDO:0004056	bladder papillary urothelial carcinoma	biolink:Disease	mondo	DOID:6975|NCIT:C7383|UMLS:C1518882		bladder urothelial papillary carcinoma|urothelial papillary carcinoma of the bladder|bladder papillary urothelial carcinoma|urinary bladder papillary transitional cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004056	An invasive or non-invasive papillary transitional cell carcinoma of the urinary bladder. It is classified as low - or high-grade. -- 2003	DOID:6975|NCIT:C7383|UMLS:C1518882
HP:0032894	Seizure precipitated by febrile infection	biolink:PhenotypicFeature	mondo			Fever induced seizure	http://purl.obolibrary.org/obo/HP_0032894	Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age.	
MONDO:0004055	acute inflammation of lacrimal passage	biolink:Disease	mondo	ICD10:H04.3|SCTID:302900006|UMLS:C0339129|ICD9:375.3|DOID:6970			http://purl.obolibrary.org/obo/MONDO_0004055		DOID:6970|UMLS:C0339129|SNOMEDCT:302900006
MONDO:0004058	pancreatic cholera	biolink:Disease	mondo	SCTID:39998009|DOID:6977|ICD9:259.3|NCIT:C3488		pancreatic WDHA syndrome|watery diarrhea with hypokalemic alkalosis|Verner-Morrison syndrome|Verner Morrison syndrome|islet cell WDHA syndrome|watery diarrhea syndrome|WDHA syndrome|WDHH|excessive vasoactive intestinal peptide secretion|watery diarrhea, hypokalemia, and achlorhydria syndrome|WDHA syndrome	http://purl.obolibrary.org/obo/MONDO_0004058	A rare syndrome characterized by severe watery diarrhea, hypokalemia, and achlorhydria. It is caused by the oversecretion of vasoactive intestinal peptide from the pancreatic islet cells.	NCIT:C3488|SNOMEDCT:39998009|DOID:6977
MONDO:0004057	micropapillary variant infiltrating bladder urothelial carcinoma	biolink:Disease	mondo	NCIT:C27202|DOID:6976|EFO:0008512|UMLS:C1517579		infiltrating bladder urothelial carcinoma, micropapillary variant	http://purl.obolibrary.org/obo/MONDO_0004057	An infiltrating bladder transitional cell carcinoma exhibiting micropapillary growth pattern. -- 2003	UMLS:C1517579|DOID:6976|NCIT:C27202
MONDO:0004052	rectal cloacogenic carcinoma	biolink:Disease	mondo	DOID:6959|UMLS:C1333074|NCIT:C5555		transition zone carcinoma of rectum|rectal transitional zone carcinoma|transition zone carcinoma of the rectum|cloacogenic carcinoma of rectum|cloacogenic carcinoma of the rectum|rectal transition zone carcinoma|transitional zone carcinoma of rectum|rectal cloacogenic carcinoma|transitional zone carcinoma of the rectum	http://purl.obolibrary.org/obo/MONDO_0004052	A carcinoma that arises from the transitional zone at the junction of the rectum and anus.	UMLS:C1333074|DOID:6959|NCIT:C5555
NCBITaxon:1463974	Cryptostroma	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1463974		
MONDO:0004051	aleukemic monocytic leukemia cutis	biolink:Disease	mondo	DOID:6958|NCIT:C5630|UMLS:C1332232		aleukemic monocytic leukemia cutis	http://purl.obolibrary.org/obo/MONDO_0004051		UMLS:C1332232|DOID:6958|NCIT:C5630
MONDO:0004054	acute canaliculitis	biolink:Disease	mondo	DOID:6969|ICD9:375.31|UMLS:C0339130|SCTID:84399007|COHD:436414|ICD10:H04.33		acute canaliculitis, lacrimal|acute lacrimal canaliculitis	http://purl.obolibrary.org/obo/MONDO_0004054		UMLS:C0339130|DOID:6969|SNOMEDCT:84399007
NCBITaxon:1463975	Cryptostroma corticale	organism taxon	mondo	GC_ID:1		Coniosporium corticale	http://purl.obolibrary.org/obo/NCBITaxon_1463975		
HP:0032892	Infection-related seizure	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0032892	Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever.	
MONDO:0004053	bartholin gland squamous cell carcinoma	biolink:Disease	mondo	EFO:1000104|NCIT:C40293|DOID:6961|UMLS:C1511052		Bartholin's gland squamous cell carcinoma|major vestibular gland squamous cell carcinoma|bartholin gland squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004053	A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells.	NCIT:C40293|DOID:6961|UMLS:C1511052
HGNC:26190	MTMR14	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26190		
MONDO:0004050	telangiectatic osteogenic sarcoma	biolink:Disease	mondo	ONCOTREE:TEOS|UMLS:C0259782|NCIT:C3902|DOID:6951|ICDO:9183/3		telangiectatic osteosarcoma (morphologic abnormality)|telangiectatic osteosarcoma|TEOS|malignant bone aneurysm	http://purl.obolibrary.org/obo/MONDO_0004050	An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of a cystic architecture with blood-filled spaces. The prognosis is similar to that of conventional osteosarcoma.	NCIT:C3902|DOID:6951|UMLS:C0259782
MONDO:0016049	congenital myopathy, Paradas type	biolink:Disease	mondo	Orphanet:199329|ICD10:G71.2	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016049	Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development.	ORPHA:199329
HP:0030236	Abnormality of muscle size	biolink:PhenotypicFeature	mondo	UMLS:C4022563		Abnormality of muscle size	http://purl.obolibrary.org/obo/HP_0030236	Abnormalities of the overall muscle bulk based on clinical observation.	
HGNC:26193	CSPP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26193		
MONDO:0016045	tetragametic chimerism	biolink:Disease	mondo	ICD10:Q99.0|UMLS:CN200724|Orphanet:199310	ordo_malformation_syndrome	46,XX/46,XY chimerism	http://purl.obolibrary.org/obo/MONDO_0016045	Tetragametic chimerism is a rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins.	UMLS:CN200724|ORPHA:199310
MONDO:0016046	familial clubfoot with or without associated lower limb anomalies	biolink:Disease	mondo	Orphanet:199315|ICD10:Q66.8|UMLS:CN200725	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0016046	Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly.	UMLS:CN200725|ORPHA:199315
MONDO:0016047	endophthalmitis	biolink:Disease	mondo	COHD:438411|UMLS:C0014236|NCIT:C34586|MESH:D009877|Orphanet:199323|ICD9:360.19|ICD10:H44.1|SCTID:1847009|ICD10:H44.0|MedDRA:10014801|DOID:4692	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016047	An infectious process affecting the internal structures of the eye.	MEDDRA:10014801|SNOMEDCT:1847009|UMLS:C0014236|NCIT:C34586|MESH:D009877|DOID:4692|ORPHA:199323
MONDO:0016048	isolated autosomal dominant hypomagnesemia, Glaudemans type	biolink:Disease	mondo	ICD10:E83.4|Orphanet:199326|SCTID:722008003|UMLS:CN200728	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016048	Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal.	UMLS:CN200728|ORPHA:199326|SNOMEDCT:722008003
MONDO:0016041	congenital microgastria	biolink:Disease	mondo	ICD10:Q40.2|SCTID:83714006|ICD9:750.7|Orphanet:199293	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0016041	Congenital microgastria is a rare malformation where the embryological development of the stomach is interrupted, leading to an abnormally small foregut in newborns and characterized by extreme feeding intolerance and malnutrition along with growth retardation and death if untreated. It is usually associated with multiple congenital anomalies.	UMLS:C0266150|SNOMEDCT:83714006|ORPHA:199293
MONDO:0016042	late-onset isolated ACTH deficiency	biolink:Disease	mondo	ICD10:E23.6|Orphanet:199299	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016042	Late-onset isolated ACTH deficiency is a rare, acquired, pituitary hormone deficiency characterized by secondary adrenal insufficiency, with normal secretion of anterior pituitary hormones, except for ACTH. Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia, and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described.	ORPHA:199299
MONDO:0016043	isolated cleft lip	biolink:Disease	mondo	Orphanet:199302|MedDRA:10009259|ICD10:Q36.9|ICD10:Q36.1|ICD10:Q36.0	ordo_morphological_anomaly	nonsyndromic cleft lip (disease)|isolated cleft lip (disease)	http://purl.obolibrary.org/obo/MONDO_0016043	Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base.	UMLS:C0008924|ORPHA:199302|MEDDRA:10009259
MONDO:0016044	cleft lip/palate	biolink:Disease	mondo	Orphanet:199306|MedDRA:10009260|ICD10:Q37.5|ICD10:Q37.4|ICD10:Q37.3|ICD10:Q37.2|ICD10:Q37.1|ICD10:Q37.0|ICD9:749.25|ICD9:749.20|SCTID:66948001|ICD10:Q37.9|ICD10:Q37.8	ordo_morphological_anomaly	alveolar cleft lip and palate|FLP|cleft lip and palate|cleft lip-alveolus-palate syndrome	http://purl.obolibrary.org/obo/MONDO_0016044	Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.	SNOMEDCT:66948001|UMLS:C0158646|ORPHA:199306|MEDDRA:10009260
CHEBI:71300	EC 2.* (transferase) inhibitor	biolink:ChemicalSubstance	mondo			EC 2 inhibitor|EC 2 inhibitors|EC 2.* inhibitor|EC 2.* (transferase) inhibitors|transferase inhibitor|transferase inhibitors|EC 2.* inhibitors	http://purl.obolibrary.org/obo/CHEBI_71300	An enzyme inhibitor that inhibits the action of a transferase (EC 2.*)	
MONDO:0018691	obsolete endometrioid carcinoma of ovary	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018691		
MONDO:0018690	Holmes-Adie syndrome	biolink:Disease	mondo	DOID:11549|GARD:0005749|MESH:D000270|UMLS:C0001519|ICD10:H57.0|EFO:0004126|OMIM:103100|SCTID:24225004|NCIT:C34357|Orphanet:454718	ordo_disease	Adie pupil|Adie's pupil syndrome|Holmes-Adie syndrome|Adie's syndrome|tonic pupil|Adie's pupil|tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes|poorly Reacting pupils|Adie syndrome|tonic pupil-tendon areflexia syndrome|Adie's pupil or syndrome	http://purl.obolibrary.org/obo/MONDO_0018690	A rare syndrome characterized by an abnormally dilated pupil, hypoflexia, and diaphoresis. The syndrome is usually caused by a viral or bacterial infection. The abnormally dilated pupil is caused by damage to postganglionic parasympathetic fibers innervating the eye.	MESH:D000270|ORPHA:454718|UMLS:C0001519|NCIT:C34357|DOID:11549|http://identifiers.org/omim/103100|SNOMEDCT:24225004
MONDO:0004067	gallbladder mucinous adenocarcinoma	biolink:Disease	mondo	DOID:6998|NCIT:C5744|UMLS:C1333750		gall bladder mucinous adenocarcinoma|colloidal carcinoma of the gallbladder|colloidal carcinoma of gallbladder|gallbladder mucinous adenocarcinoma|gallbladder colloid carcinoma|mucinous carcinoma of the gallbladder|mucinous carcinoma of gallbladder|colloid carcinoma of the gallbladder|colloid carcinoma of gallbladder|gallbladder colloidal carcinoma|gallbladder mucinous carcinoma	http://purl.obolibrary.org/obo/MONDO_0004067	An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor.	UMLS:C1333750|DOID:6998|NCIT:C5744
MONDO:0004066	intermediate cell type ciliary body melanoma	biolink:Disease	mondo	UMLS:C1334209|DOID:6997|NCIT:C6118		ciliary body intermediate cell type uveal melanoma|Intermediate cell type ciliary body melanoma|intermediate cell type uveal melanoma of ciliary body	http://purl.obolibrary.org/obo/MONDO_0004066	Ciliary body melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.	DOID:6997|NCIT:C6118|UMLS:C1334209
MONDO:0004069	inborn mitochondrial metabolism disorder	biolink:Disease	mondo	Orphanet:68380|DOID:700|MESH:D028361|GARD:0007048	gard_rare|ordo_group_of_disorders	mitochondrial genetic disorders|mitochondrial metabolism disease|mitochondrial disease	http://purl.obolibrary.org/obo/MONDO_0004069	Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.	MESH:D028361|ORPHA:68380|DOID:700|UMLS:C0751651
MONDO:0004068	obsolete disease of anatomical entity	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004068		
MONDO:0004063	intermediate cell type iris melanoma	biolink:Disease	mondo	UMLS:C1334210|NCIT:C6101|DOID:6993		intermediate cell type uveal melanoma of iris|Intermediate cell type iris melanoma|iris mixed cell melanoma|iris intermediate cell type uveal melanoma	http://purl.obolibrary.org/obo/MONDO_0004063	Iris melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.	DOID:6993|NCIT:C6101|UMLS:C1334210
MONDO:0041052	postherpetic neuralgia	biolink:Disease	mondo	SCTID:2177002|UMLS:C0032768		postherpetic neuralgia|PHN - post-herpetic neuralgia|post-zoster neuralgia	http://purl.obolibrary.org/obo/MONDO_0041052		UMLS:C0032768|SNOMEDCT:2177002
OBO:mondo#part_of_progression_of_disease	part of progression of disease	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/mondo#part_of_progression_of_disease		
MONDO:0004062	intermediate cell type uveal melanoma	biolink:Disease	mondo	UMLS:C0279693|DOID:6992|NCIT:C7989		intraocular mixed cell type melanoma|mixed cell type uveal melanoma|Intermediate cell type intraocular melanoma|Intermediate cell type uveal melanoma	http://purl.obolibrary.org/obo/MONDO_0004062	Uveal melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.	UMLS:C0279693|DOID:6992|NCIT:C7989
MONDO:0004065	intermediate cell type choroid melanoma	biolink:Disease	mondo	NCIT:C6100|DOID:6996|UMLS:C1334208		optic choroid intermediate cell type uveal melanoma|intermediate cell type uveal melanoma of optic choroid|Intermediate cell type choroid melanoma|mixed cell melanoma of choroid	http://purl.obolibrary.org/obo/MONDO_0004065	Choroid melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.	DOID:6996|NCIT:C6100|UMLS:C1334208
MONDO:0004064	iris melanoma	biolink:Disease	mondo	UMLS:CN204945|NCIT:C9088|DOID:6994|SCTID:255012009		melanoma (disease) of iris|iris malignant melanoma|iris melanoma|malignant melanoma of iris|malignant melanoma of the iris|melanoma of iris|melanoma of the iris|malignant iris melanoma|iris melanoma (disease)	http://purl.obolibrary.org/obo/MONDO_0004064	A uveal melanoma that arises from the iris. It is the most common primary malignant neoplasm of the iris. The majority arise in preexisting nevi.	NCIT:C9088|DOID:6994|SNOMEDCT:255012009|UMLS:CN204945
MONDO:0004061	obsolete mitochondrial myopathy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004061		
MONDO:0004060	peripheral epithelioid sarcoma	biolink:Disease	mondo	NCIT:C27473|DOID:6988|UMLS:C1333306		conventional epithelioid sarcoma|distal-type epithelioid sarcoma	http://purl.obolibrary.org/obo/MONDO_0004060	An epithelioid sarcoma involving the extremities. It usually presents as nodular masses in the dermis and subcutaneous tissues or in the tendons and fascia. It frequently recurs and metastasizes to other anatomic sites. The most common sites of metastasis are the lungs, lymph nodes, bones, and brain.	DOID:6988|NCIT:C27473|UMLS:C1333306
MONDO:0016038	calcified aponeurotic fibroma	biolink:Disease	mondo	Orphanet:199260|SCTID:703614006|ICD10:M72.8|NCIT:C4818|UMLS:C0553647	ordo_disease	Keasby tumor|juvenile aponeurotic fibromatosis|Juvenile aponeurotic fibroma|Juvenile aponeurotic fibrosis|calcifying aponeurotic fibroma	http://purl.obolibrary.org/obo/MONDO_0016038	A rare slow-growing benign neoplasm arising from the soft tissues in children. It is a poorly circumscribed tumor characterized by the presence of chondrocyte-like cells, nodular calcification, nuclear palisading, and in some cases osteoclastic giant cells.	NCIT:C4818|SNOMEDCT:703614006|UMLS:C0553647|ORPHA:199260
MONDO:0016039	infantile digital fibromatosis	biolink:Disease	mondo	GARD:0008487|ICD10:M72.8|ICD9:238.8|UMLS:C1318562|Orphanet:199267|SCTID:399903008	gard_rare|ordo_disease	Reye tumor|inclusion body fibromatosis|asymptomatic nodular proliferation of fibrous tissue on the dorsal and lateral aspects of the fingers or toes|recurring digital fibrous tumor of childhood|IDF	http://purl.obolibrary.org/obo/MONDO_0016039		SNOMEDCT:399903008|UMLS:C1318562|ORPHA:199267
MONDO:0018697	1p35.2 microdeletion syndrome	biolink:Disease	mondo	UMLS:CN237766|ICD10:Q93.5|Orphanet:456298	ordo_malformation_syndrome	monosomy 1p35.2|deletion 1p35.2|Del(1)(p35.2)	http://purl.obolibrary.org/obo/MONDO_0018697		ORPHA:456298|UMLS:CN237766
MONDO:0016034	cleft lip with or without cleft palate	biolink:Disease	mondo	ICD10:Q37.9|ICD10:Q36.9|ICD10:Q37.8|ICD10:Q37.5|ICD10:Q37.4|ICD10:Q37.3|ICD10:Q37.2|ICD10:Q37.1|ICD10:Q36.1|ICD10:Q37.0|ICD10:Q36.0|Orphanet:1991	ordo_group_of_disorders	Tessier cleft number 1,2	http://purl.obolibrary.org/obo/MONDO_0016034		ORPHA:1991|UMLS:C0008924
GO:0033578	protein glycosylation in Golgi	biolink:OntologyClass	mondo			terminal glycosylation|protein amino acid glycosylation in Golgi	http://purl.obolibrary.org/obo/GO_0033578	The addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in any compartment of the Golgi apparatus.	
MONDO:0016035	Nelson syndrome	biolink:Disease	mondo	MedDRA:10028913|ICD10:E24.1|DOID:4968|UMLS:C0027577|MESH:C531754|SCTID:43019009|NCIT:C84917|GARD:0007170|Orphanet:199244|MESH:D009347	ordo_disease|gard_rare	dermal Ridges|Nelson's syndrome|Ridges-off-the-end syndrome	http://purl.obolibrary.org/obo/MONDO_0016035	A syndrome that develops following bilateral adrenalectomy for Cushing syndrome. The signs and symptoms result from the presence of an adenocorticotropin-secreting pituitary gland adenoma, and include enlargement of the sella turcica and pressure on the adjacent structures, and skin hyperpigmentation.	SNOMEDCT:43019009|NCIT:C84917|MESH:C531754|UMLS:C0027577|MESH:D009347|ORPHA:199244|DOID:4968|MEDDRA:10028913
MONDO:0018696	corticobasal syndrome	biolink:Disease	mondo	ICD10:G31.0|Orphanet:454887|UMLS:CN237765	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018696	Corticobasal syndrome (CBS) is a rare neurodegenerative disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction.	ORPHA:454887|UMLS:CN237765
MONDO:0016036	Ledderhose disease	biolink:Disease	mondo	MedDRA:10035154|MESH:C537000|ICD10:M72.2|GARD:0006873|Orphanet:199251	ordo_disease|gard_rare	plantar fibromatosis|Lederhose disease	http://purl.obolibrary.org/obo/MONDO_0016036	Ledderhose disease is a type of plantar fibromatosis characterized by the growth of hard and round or flattened nodules (lumps) on the soles of the feet. It is generally seen in middle-aged and elderly people, and affects men approximately 10 times more often than it affects women. It typically affects both feet and progresses slowly, but not indefinitely. The nodules are typically painless at first, but may cause pain when walking as they grow. Often, people with Ledderhose disease also have other conditions associated with the formation of excess fibrous connective tissue such as Dupuytren contracture, knuckle pads, or Peyronie disease. Repeated trauma, long-term alcohol consumption, chronic liver disease, diabetes, and epilepsy have also been reported in association with this condition. The exact cause of Ledderhose disease is not known, but heredity is thought to play a role in many cases. Treatment, if needed, involves conservative management, steroid injections, radiotherapy, and surgery (plantar facia removal (fasciectomy) and surgical removal of of the fibrous tissue. The condition has a good prognosis, although slow progression is not uncommon. Fasciectomy has been shown to reduce the rate of recurrences.	MESH:C537000|MEDDRA:10035154|UMLS:C0158360|ORPHA:199251
GO:0033576	protein glycosylation in cytosol	biolink:OntologyClass	mondo			protein amino acid glycosylation in cytosol	http://purl.obolibrary.org/obo/GO_0033576	The addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in the cytosol.	
MONDO:0018699	obsolete pseudohypoparathyroidism with Albright hereditary osteodystrophy	biolink:Disease	mondo	Orphanet:457059	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018699		ORPHA:457059
MONDO:0018698	hereditary neuroendocrine tumor of small intestine	biolink:Disease	mondo	UMLS:CN847586|Orphanet:456333|UMLS:CN237770	ordo_disease	hereditary neuroendocrine tumor of small bowel|hereditary neuroendocrine tumor of the small intestine|hereditary small intestine neuroendocrine neoplasm	http://purl.obolibrary.org/obo/MONDO_0018698	An instance of neuroendocrine tumor of the small intestine that is caused by an inherited modification of the individual's genome.	ORPHA:456333|UMLS:CN847586|UMLS:CN237770
MONDO:0016037	superficial Fibromatosis	biolink:Disease	mondo	SCTID:238853007|ICD9:729.99|NCIT:C6814|EFO:1000556|ICD10:M72.8|Orphanet:199257|UMLS:C0406571	ordo_group_of_disorders	superficial Fibromatosis	http://purl.obolibrary.org/obo/MONDO_0016037	A poorly circumscribed, intermediate fibrocytic neoplasm arising from the superficial soft tissues. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern.	SNOMEDCT:238853007|NCIT:C6814|UMLS:C0406571|ORPHA:199257
MONDO:0016030	Evans syndrome	biolink:Disease	mondo	NCIT:C61284|MESH:C536380|UMLS:C0272126|ICD10:D69.41|COHD:436956|SCTID:75331009|ICD10:D69.3|DOID:8931|ICD9:287.32|GARD:0006389|Orphanet:1959|MedDRA:10053873	gard_rare|ordo_disease	Evans' syndrome|immune pancytopenia|Evan syndrome|autoimmune hemolytic anemia and autoimmune thrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0016030	Evans syndrome is a rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology.	DOID:8931|MEDDRA:10053873|MESH:C536380|ORPHA:1959|NCIT:C61284|SNOMEDCT:75331009|UMLS:C0272126
MONDO:0018693	obsolete kuru	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018693		
MONDO:0016031	facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome	biolink:Disease	mondo	GARD:0002221|UMLS:C2931183|MESH:C536384|ICD10:Q87.0|Orphanet:1969	ordo_malformation_syndrome	Friedman-Goodman syndrome|facial features (unique), anorexia, cachexia, eye and skin anomalies|faces syndrome	http://purl.obolibrary.org/obo/MONDO_0016031		MESH:C536384|ORPHA:1969|UMLS:C2931183
MONDO:0018692	variably protease-sensitive prionopathy	biolink:Disease	mondo	SCTID:721165001|Orphanet:454742|UMLS:C4303527|ICD10:A81.8	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018692		SNOMEDCT:721165001|ORPHA:454742|UMLS:C4303527
MONDO:0018695	avian influenza	biolink:Disease	mondo	UMLS:C0016627|Orphanet:454836|COHD:314979|ICD10:J09.X|UMLS:CN237762|ICD10:J09|EFO:0005222|MESH:D005585|SCTID:55604004|DOID:4492	ordo_disease	avian flu|bird flu	http://purl.obolibrary.org/obo/MONDO_0018695	Infection of domestic and wild fowl and other birds with influenza A virus. Avian influenza usually does not sicken birds, but can be highly pathogenic and fatal in domestic poultry.	SNOMEDCT:55604004|UMLS:C0016627|ORPHA:454836|DOID:4492|UMLS:CN237762|MESH:D005585
MONDO:0016032	femoral agenesis/hypoplasia	biolink:Disease	mondo	GARD:0001503|SCTID:93255008|Orphanet:1987|ICD10:Q72.4|ICD9:755.34	ordo_malformation_syndrome	congenital short femur|femoral intercalary meromelia	http://purl.obolibrary.org/obo/MONDO_0016032	Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur.	UMLS:C0345375|ORPHA:1987|SNOMEDCT:93255008
MONDO:0016033	Cornelia de Lange syndrome	biolink:Disease	mondo	UMLS:CN239271|MedDRA:10056354|DOID:11725|ICD10:Q87.1|Orphanet:199|NCIT:C75016|OMIMPS:122470|GARD:0010109|UMLS:C0270972	ordo_malformation_syndrome	De Lange syndrome|Brachmann de Lange syndrome|CDLS|Brachmann-de Lange syndrome	http://purl.obolibrary.org/obo/MONDO_0016033	A rare syndrome characterized by low birth weight, delayed growth, intellectual disabillity, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes.	DOID:11725|MESH:D003635|UMLS:CN239271|ORPHA:199|NCIT:C75016|UMLS:C0270972|MEDDRA:10056354
MONDO:0018694	isolated tracheo-esophageal fistula	biolink:Disease	mondo	Orphanet:454750|ICD10:Q39.2|NCIT:C35080	ordo_morphological_anomaly	tracheo-esophageal fistula|tracheoesophageal fistula|isolated tracheoesophageal fistula|tracheoesophageal fistula|H-type tracheoesophageal fistula	http://purl.obolibrary.org/obo/MONDO_0018694	A congenital or acquired abnormal communication between the trachea and the esophagus.	NCIT:C35080|ORPHA:454750
HGNC:14198	ELAC2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14198		
MONDO:0016092	serous or mucinous cystadenoma of childhood	biolink:Disease	mondo	ICD10:D27|Orphanet:206470	ordo_disease	mucinous cystadenoma of ovary in childhood|serous cystadenoma of ovary in childhood	http://purl.obolibrary.org/obo/MONDO_0016092	Serous or mucinous cystadenoma of childhood is a benign epithelial ovarian tumor characterized by a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation.	ORPHA:206470
MONDO:0016093	borderline epithelial tumor of ovary	biolink:Disease	mondo	EFO:1000140|ICD10:C56|UMLS:C3665489|Orphanet:206473|GARD:0009363|NCIT:C4783|SCTID:764791008	ordo_disease	ovarian tumors of low malignant potential|ovarian borderline malignant tumor|ovarian tum. of low malig. poten.|borderline epithelial tumor of the ovary|borderline epithelial tumor of ovary|low malignant potential ovarian tumor|ovarian low malignant potential tumor|borderline epithelial neoplasm of the ovary|borderline ovarian surface epithelial-stromal tumor|borderline epithelial neoplasm of ovary|epithelial ovarian tumor of borderline malignancy|borderline ovarian epithelial neoplasm|borderline ovarian epithelial tumor|ovarian tumor of low malignant potential|epithelial neoplasm of ovary of borderline malignancy|epithelial neoplasm of the ovary of borderline malignancy|epithelial tumor of ovary of borderline malignancy|epithelial ovarian neoplasm of borderline malignancy|epithelial tumor of the ovary of borderline malignancy	http://purl.obolibrary.org/obo/MONDO_0016093	A low grade epithelial tumor arising from the ovary. It is characterized by an atypical proliferation of epithelial cells. There is no evidence of stromal invasion.	ORPHA:206473|NCIT:C4783|UMLS:C3665489|SNOMEDCT:764791008
MONDO:0016094	vaginal germ cell malignant tumor	biolink:Disease	mondo	Orphanet:206489|UMLS:CN200860|ICD10:C52	ordo_disease	vaginal germ cell cancer|malignant germ cell tumor of the vagina|vagina malignant germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0016094	A malignant germ cell tumor that involves the vagina.	ORPHA:206489|UMLS:CN200860
MONDO:0016095	vaginal rhabdomyosarcoma	biolink:Disease	mondo	UMLS:C4288035|NCIT:C128080|SCTID:766759009|Orphanet:206492|ICD10:C52	ordo_disease	vagina rhabdomyosarcoma (disease)|vagina rhabdomyosarcoma|vulvovaginal rhabdomyosarcoma|rhabdomyosarcoma (disease) of vagina|vaginal rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0016095	A malignant mesenchymal neoplasm with skeletal muscle differentiation arising from the vagina.	ORPHA:206492|UMLS:C4288035|SNOMEDCT:766759009|NCIT:C128080
NCBITaxon:45709		organism taxon	mondo				http://purl.obolibrary.org/obo/NCBITaxon_45709		
MONDO:0016090	late-infantile/juvenile Krabbe disease	biolink:Disease	mondo	Orphanet:206443|UMLS:CN200855|ICD10:E75.2|SCTID:41142009	ordo_clinical_subtype	Krabbe disease, late-onset	http://purl.obolibrary.org/obo/MONDO_0016090		ORPHA:206443|SNOMEDCT:41142009|UMLS:CN200855
MONDO:0016091	adult Krabbe disease	biolink:Disease	mondo	ICD10:E75.2|UMLS:CN200856|Orphanet:206448	ordo_clinical_subtype	Krabbe disease of adults	http://purl.obolibrary.org/obo/MONDO_0016091	A Krabbe disease that occurs in an adult.	ORPHA:206448|UMLS:C0268252|UMLS:CN200856
MONDO:0043653	herpes labialis	biolink:Disease	mondo	NCIT:C34695|SCTID:1475003|MESH:D006560|UMLS:C0019345|EFO:1001347		blister, fever|fever blisters|cold Sore|fever blister|herpes simplex labialis|Sores, cold|herpes labialis|Herpes simplex, labial|blisters, fever|labial Herpes simplex|cold Sores|Sore, cold|cold sores	http://purl.obolibrary.org/obo/MONDO_0043653	A lesion caused by type 1 or type 2 herpes simplex virus, involving the oralfacial region.	NCIT:C34695|SNOMEDCT:1475003|UMLS:C0019345|MESH:D006560
HGNC:26182	COLGALT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26182		
GO:0033554	cellular response to stress	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0033554	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation).	
MONDO:0016096	malignant non-dysgerminomatous germ cell tumor of ovary	biolink:Disease	mondo	ICD10:C56|UMLS:CN200863|NCIT:C102870|UMLS:C3640983|Orphanet:206538	ordo_disease	ovarian Nondysgerminomatous germ cell tumor|non-dysgerminomatous germ cell cancer of ovary|ovarian nondysgerminomatous germ cell tumor, NOS|ovarian nondysgerm. GCT, NOS|ovarian non-dysgerminomatous germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0016096	A malignant germ cell tumor other than dysgerminoma that arises from the ovary.	NCIT:C102870|ORPHA:206538|UMLS:C3640983|UMLS:CN200863
HP:0005293	Venous insufficiency	biolink:PhenotypicFeature	mondo	MSH:D014689|UMLS:C0042485|SNOMEDCT_US:20696009		Poorly functioning veins	http://purl.obolibrary.org/obo/HP_0005293		
MONDO:0016097	symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers	biolink:Disease	mondo	SCTID:765197008|Orphanet:206546|ICD10:G71.0|UMLS:CN200864	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016097	Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation.	UMLS:CN200864|ORPHA:206546|SNOMEDCT:765197008
MONDO:0016098	immune-mediated necrotizing myopathy	biolink:Disease	mondo	Orphanet:206569|GARD:0013307|SCTID:715863001|ICD10:G72.4	ordo_disease	autoimmune necrotizing myositis|anti-SRP myopathy|necrotizing autoimmune myopathy|NAM|anti-HMG-CoA myopathy|immune myopathy with myocyte necrosis|IMNM	http://purl.obolibrary.org/obo/MONDO_0016098	Necrotizing autoimmune myopathy (NAM) is a rare form of idiopathic inflammatory myopathy characterized clinically by acute or subacute proximal muscle weakness, and histopathologically by myocyte necrosis and regeneration without significant inflammation.	ORPHA:206569|SNOMEDCT:715863001
MONDO:0016099	overlap myositis	biolink:Disease	mondo	Orphanet:206572	ordo_disease	non-specific myositis|adult-onset overlap myositis	http://purl.obolibrary.org/obo/MONDO_0016099	Overlap myositis (OM) is a form of idiopathic inflammatory myopathy (IIM) characterized by myositis with at least one clinical and/or autoantibody overlap feature.	ORPHA:206572
MONDO:0016081	coronary arterial fistulas	biolink:Disease	mondo	ICD10:Q24.5|Orphanet:2041|GARD:0001533|MedDRA:10069441	ordo_morphological_anomaly	Coronaro-cardiac fistula|coronary arterial malformations	http://purl.obolibrary.org/obo/MONDO_0016081	Coronary arterial fistulas are a connection between one or more of the coronary arteries and a cardiac chamber or great vessel.	MEDDRA:10069441|ORPHA:2041|UMLS:C0265898
MONDO:0016082	obsolete tracheo-esophageal fistula-hypospadias syndrome	biolink:Disease	mondo	Orphanet:2042|UMLS:CN226834|ICD10:Q87.8			http://purl.obolibrary.org/obo/MONDO_0016082		ORPHA:2042|UMLS:CN226834
MONDO:0016083	FLOTCH syndrome	biolink:Disease	mondo	Orphanet:2045|MESH:C537065|UMLS:C2931411|ICD10:L60.8|GARD:0002346	ordo_disease|gard_rare	leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome|familial occurrence of total leukonychia, trichilemmal cysts and ciliary dystrophy with dominant autosomal heredity	http://purl.obolibrary.org/obo/MONDO_0016083	FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported.	UMLS:C2931411|ORPHA:2045|MESH:C537065
MONDO:0016084	obsolete Crigler-Najjar syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016084		
MONDO:0016080	congenital bronchobiliary fistula	biolink:Disease	mondo	GARD:0001475|ICD10:Q32.4|Orphanet:2040|SCTID:719452004	ordo_morphological_anomaly|gard_rare		http://purl.obolibrary.org/obo/MONDO_0016080	Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus.	SNOMEDCT:719452004|ORPHA:2040
MONDO:0004099	adult cystic teratoma	biolink:Disease	mondo	DOID:7079|UMLS:C1368888|NCIT:C9012		cystic teratoma of adults|adult cystic teratoma	http://purl.obolibrary.org/obo/MONDO_0004099	A cystic teratoma that occurs in an adult.	UMLS:C1368888|DOID:7079|NCIT:C9012
MONDO:0004096	spinal cord dermoid cyst	biolink:Disease	mondo	UMLS:C1333278|NCIT:C6808|DOID:7071		dermoid cyst of the spinal cord|dermoid cyst of spinal cord|spinal cord dermoid|spinal cord dermoid cyst	http://purl.obolibrary.org/obo/MONDO_0004096	A dermoid cyst that involves the spinal cord.	NCIT:C6808|DOID:7071|UMLS:C1333278
MONDO:0004095	B-cell neoplasm	biolink:Disease	mondo	GARD:0005877|NCIT:C27907|DOID:707|MESH:D016393	gard_rare	B-cell lymphocytic neoplasm|B-cell neoplasm|lymphoma, B-cell|B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0004095	A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes.	DOID:707|NCIT:C27907|MESH:D016393
HGNC:26158	ELMOD3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26158		
MONDO:0004098	malignant melanocytic peripheral nerve sheath tumor of mediastinum	biolink:Disease	mondo	NCIT:C6630|UMLS:C1334600|DOID:7077		malignant melanocytic neoplasm of the peripheral nerve sheath of mediastinum|malignant melanocytic peripheral nerve sheath tumor of mediastinum|mediastinal melanocytic MPNST|mediastinum malignant melanocytic neoplasm of the peripheral nerve sheath|malignant melanotic peripheral nerve sheath tumor of the mediastinum|malignant mediastinal melanocytic peripheral nerve sheath tumor	http://purl.obolibrary.org/obo/MONDO_0004098	A rare variant of malignant peripheral nerve sheath tumor that arises from the mediastinum. It is characterized by the presence of malignant cells that contain melanin.	NCIT:C6630|DOID:7077|UMLS:C1334600
MONDO:0004097	obsolete lipid-rich breast carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004097		
MONDO:0004092	thymic basaloid carcinoma	biolink:Disease	mondo	UMLS:C1332464|NCIT:C6456|DOID:7050		Thymus basaloid carcinoma|basaloid carcinoma of the Thymus|basaloid carcinoma of Thymus|thymic basaloid carcinoma|thymus basaloid squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004092	A rare primary thymic carcinoma, characterized by the presence of tumor cell lobules with peripheral palisading, and a basophilic staining pattern. More than half of reported cases were associated with the presence of a multilocular thymic cyst. Metastases to lung and liver have been reported in approximately 30% of cases.	NCIT:C6456|DOID:7050|UMLS:C1332464
MONDO:0004091	skin basaloid carcinoma	biolink:Disease	mondo	DOID:7049|NCIT:C27543|UMLS:C1335973		skin basaloid squamous cell carcinoma|skin basaloid carcinoma|basaloid skin squamous cell carcinoma|zone of skin basaloid squamous cell carcinoma|basaloid squamous cell skin carcinoma	http://purl.obolibrary.org/obo/MONDO_0004091	A basaloid squamous cell carcinoma that involves the zone of skin.	NCIT:C27543|DOID:7049|UMLS:C1335973
MONDO:0004094	multiple skull base meningioma	biolink:Disease	mondo	NCIT:C5279|DOID:7054|UMLS:C1334829		multiple skull base meningiomas	http://purl.obolibrary.org/obo/MONDO_0004094	Multiple meningiomas that affect the skull base.	NCIT:C5279|DOID:7054|UMLS:C1334829
MONDO:0004093	esophageal basaloid carcinoma	biolink:Disease	mondo	NCIT:C7032|DOID:7051|UMLS:C1333443		esophageal basaloid squamous cell carcinoma|esophageal basaloid carcinoma|basaloid squamous carcinoma of esophagus|esophageal basaloid cancer|basaloid squamous carcinoma of the esophagus	http://purl.obolibrary.org/obo/MONDO_0004093	A rare morphologic variant of esophageal squamous cell carcinoma. Histologically, it is composed of closely packed cells with hyperchromatic nuclei and scant basophilic cytoplasm. It has a similar prognosis to the conventional squamous cell carcinoma of the esophagus. (WHO)	NCIT:C7032|DOID:7051|UMLS:C1333443
HP:0005268	Spontaneous abortion	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:17369002|UMLS:C0000786|MSH:D000022		Miscarriage	http://purl.obolibrary.org/obo/HP_0005268	A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 20th week of pregnancy.	
MONDO:0004090	vulvar basaloid squamous cell carcinoma	biolink:Disease	mondo	DOID:7048|UMLS:C2211850|NCIT:C40286		vulvar basaloid carcinoma|vulvar basaloid squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004090	A squamous cell carcinoma that arises from the vulva and is characterized by the presence of nests of malignant basaloid cells with a scant amount of cytoplasm.	UMLS:C2211850|DOID:7048|NCIT:C40286
NCBITaxon:200643	Bacteroidia	organism taxon	mondo	GC_ID:11		Bacteroidetes	http://purl.obolibrary.org/obo/NCBITaxon_200643		
MONDO:0016089	infantile Krabbe disease	biolink:Disease	mondo	SCTID:238030005|Orphanet:206436|ICD10:E75.2	ordo_clinical_subtype	Krabbe disease, early-onset|Krabbe disease, classic form	http://purl.obolibrary.org/obo/MONDO_0016089		SNOMEDCT:238030005|UMLS:C0751273|ORPHA:206436
MONDO:0016085	Cole-Carpenter syndrome	biolink:Disease	mondo	ICD10:Q78.0|OMIMPS:112240|MESH:C535963|UMLS:C1862178|NCIT:C130985|GARD:0001425|DOID:0060438|Orphanet:2050	ordo_malformation_syndrome	bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome|Cole Carpenter syndrome	http://purl.obolibrary.org/obo/MONDO_0016085	Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).	DOID:0060438|MESH:C535963|NCIT:C130985|UMLS:C1862178|ORPHA:2050
MONDO:0016086	osteochondritis of tarsal/metatarsal bone	biolink:Disease	mondo	UMLS:C0158444|Orphanet:2054|GARD:0006842|ICD9:732.5|SCTID:203392007|ICD10:M93.2|DOID:11760|UMLS:CN200840|COHD:435903	ordo_disease|gard_rare	Kohler's disease of the tarsal navicular|Kohler's Osteochondrosis of the tarsal navicular|osteochondritis of tarsal/metatarsal bone|navicular Osteochondrosis|juvenile osteochondrosis of foot|Kohler's disease|Osteochondrosis of the tarsal bone|Kohler disease|aseptic necrosis of the tarsal bone	http://purl.obolibrary.org/obo/MONDO_0016086	Osteochondritis of tarsal/metatarsal bone is a very rare form of osteochondritis dissecans characterized by generally self-limiting bone lesions that may cause pain and swelling often localized at the tarsal navicular bone	UMLS:CN200840|DOID:11760|SNOMEDCT:203392007|ORPHA:2054|UMLS:C0158444
MONDO:0016087	progressive non-infectious anterior vertebral fusion	biolink:Disease	mondo	UMLS:C4304839|Orphanet:2062|ICD10:Q87.8|SCTID:719268008|UMLS:CN200850	ordo_malformation_syndrome	Copenhagen syndrome	http://purl.obolibrary.org/obo/MONDO_0016087	Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features.	UMLS:CN200850|UMLS:C4304839|SNOMEDCT:719268008|ORPHA:2062
HP:0005262	Abnormality of the synovia	biolink:PhenotypicFeature	mondo	UMLS:C4025225			http://purl.obolibrary.org/obo/HP_0005262		
MONDO:0016088	hypoxanthine-guanine phosphoribosyltransferase deficiency	biolink:Disease	mondo	Orphanet:206428|ICD9:277.6|GARD:0002943|ICD10:E79.8|SCTID:124275001	ordo_group_of_disorders	HPRT1 deficiency|HPRT deficiency|hypoxanthine-guanine phosphoribosyltransferase 1 deficiency	http://purl.obolibrary.org/obo/MONDO_0016088	Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.	ORPHA:206428|SNOMEDCT:124275001
MONDO:0016070	hereditary gingival fibromatosis	biolink:Disease	mondo	ICD10:K06.1|UMLS:C0399440|Orphanet:2024|OMIMPS:135300|SCTID:109620006|DOID:0060466	ordo_malformation_syndrome	hereditary gingival hyperplasia|hereditary gingival fibromatosis|autosomal dominant gingival hyperplasia|autosomal dominant gingival fibromatosis	http://purl.obolibrary.org/obo/MONDO_0016070	Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome.	DOID:0060466|ORPHA:2024|SNOMEDCT:109620006|UMLS:C0399440
MONDO:0016071	juvenile hyaline fibromatosis	biolink:Disease	mondo	SCTID:238861002|ICD9:733.29|NCIT:C98297|ICD10:M72.8|Orphanet:2028	ordo_disease	Molluscum fibrosum|Murray-Puretic-Drescher syndrome|mesenchymal dysplasia|Puretic syndrome	http://purl.obolibrary.org/obo/MONDO_0016071	Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis.	NCIT:C98297|ORPHA:2028|MESH:D057770|UMLS:C0406578|SNOMEDCT:238861002
MONDO:0016072	anomaly of puberty or/and menstrual cycle of genetic origin	biolink:Disease	mondo	Orphanet:202940	ordo_group_of_disorders	genetic anomaly of puberty or/and menstrual cycle	http://purl.obolibrary.org/obo/MONDO_0016072	An instance of anomaly of puberty or/and menstrual cycle that is caused by a modification of the individual's genome.	ORPHA:202940
MONDO:0016073	syndromic microphthalmia	biolink:Disease	mondo	OMIMPS:309800|DC:0000280|DOID:0080636|Orphanet:202948|UMLS:CN226833	ordo_group_of_disorders	syndromic microphthalmia|syndrome associated with microphthalmia|syndrome associated with microphthalmia|microphthalmia, syndromic	http://purl.obolibrary.org/obo/MONDO_0016073	A microphthalmia that is part of a larger syndrome.	DOID:0080636|UMLS:CN226833|ORPHA:202948
HGNC:26169	CTC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26169		
HGNC:26162	PYROXD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26162		
MONDO:0041008	obsolete contact dermatitis caused by poison oak	biolink:Disease	mondo	SCTID:200824008|UMLS:C0263283		contact dermatitis caused by poison oak|contact dermatitis due to poison oak	http://purl.obolibrary.org/obo/MONDO_0041008		SNOMEDCT:200824008|UMLS:C0263283
MONDO:0016078	congenital systemic arteriovenous fistula	biolink:Disease	mondo	Orphanet:2039|ICD10:Q27.3	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0016078		ORPHA:2039
MONDO:0016079	sporadic Creutzfeldt-Jakob disease	biolink:Disease	mondo	MedDRA:10011384|SCTID:713060000|Orphanet:204|ICD9:046.19|ICD10:A81.0	ordo_disease	sporadic CJD	http://purl.obolibrary.org/obo/MONDO_0016079	Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD, and iatrogenic and variant CJD (vCJD).	ORPHA:204|SNOMEDCT:713060000|UMLS:C0022336|MEDDRA:10011384
MONDO:0016074	obsolete fibrosarcoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016074		
MONDO:0016075	filariasis	biolink:Disease	mondo	MedDRA:10016674|ICD10:B74.0|NCIT:C34611|ICD9:125.9|MESH:D005368|Orphanet:2034|UMLS:C0016085|ICD10:B74.8|SCTID:105706003|ICD10:B74.9|DOID:1080|ICD10:B74.4|ICD10:B74.3|ICD10:B74|ICD10:B74.2|ICD10:B74.1	ordo_group_of_disorders	disease due to superfamily Filarioidea	http://purl.obolibrary.org/obo/MONDO_0016075	A parasitic disease caused by tissue-invasive, vector-borne nematodes which can be found anywhere in the human body and that are transmitted to humans through the bite of an infected mosquito or fly or by consumption of unsafe drinking water and which, depending on the subtype can manifest with lymphedema, dermatitis, subcutaneous edema and eye involvement. The disorder is a major public health problem in many tropical and subtropical countries. Six subtypes have been described in the literature: lymphatic filariasis, onchocerciasis, loiasis, mansonelliasis, dirofilariasis and dracunculiasis caused by Wuchereria bancrofti and filarioidea of the genus Brugia; Onchocerca volvulus; Loa loa; Mansonella; Dirofilaria; and Dracunculus medinensis, respectively. Tropical eosinophilia is considered a frequent manifestation.	NCIT:C34611|MEDDRA:10016674|DOID:1080|MESH:D005368|UMLS:C0016085|SNOMEDCT:105706003|ORPHA:2034
MONDO:0016076	obsolete lymphatic filariasis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016076		
MONDO:0016077	congenital aortopulmonary window	biolink:Disease	mondo	Orphanet:2037|MESH:C537782|UMLS:C2931610|GARD:0000738|ICD10:Q21.4	ordo_morphological_anomaly	congenital aortopulmonary septal defect|congenital aortopulmonary artery fistula|aortopulmonary fistula|aorto-pulmonary artery fistula|aorta-pulmonary artery fistula	http://purl.obolibrary.org/obo/MONDO_0016077		MESH:C537782|UMLS:C2931610|ORPHA:2037
MONDO:0004119	obsolete endometrial small cell carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004119		
MONDO:0004118	cystitis cystica	biolink:Disease	mondo	ICD9:595.81|SCTID:13285005|COHD:201633|DOID:7138|UMLS:C0152262|NCIT:C96230			http://purl.obolibrary.org/obo/MONDO_0004118	A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by urothelial cells.	SNOMEDCT:13285005|NCIT:C96230|DOID:7138|UMLS:C0152262
HGNC:14270	PCDH19	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14270		
MONDO:0006778	halo nevus	biolink:Disease	mondo	MESH:D055882|ICDO:8723/0|ICD9:709.09|NCIT:C7602|UMLS:C0474824|EFO:1000958|MedDRA:10062794|GARD:0009421|SCTID:398028009	gard_rare	leukoderma acquisitum Centrifugum of Sutton|halo nevi	http://purl.obolibrary.org/obo/MONDO_0006778	A benign melanocytic nevus with a halo appearance.	MESH:D055882|SNOMEDCT:398028009|NCIT:C7602|UMLS:C0474824
MONDO:0004115	obsolete gallbladder small cell carcinoma	biolink:Disease	mondo			gall bladder small cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004115		
MONDO:0004114	urinary bladder small cell neuroendocrine carcinoma	biolink:Disease	mondo	ICD10:C67.1|Orphanet:284400|ICD10:C67.0|NCIT:C9461|UMLS:C1332564|ONCOTREE:SCBC|ICD10:C67.9|ICD10:C67.8|ICD10:C67.7|ICD10:C67.6|ICD10:C67.5|EFO:1000129|DOID:7132|GARD:0011923|ICD10:C67.4|ICD10:C67.3|ICD10:C67.2|UMLS:CN202866	ordo_disease|gard_rare	small cell carcinoma of the urinary bladder|SCCB|bladder small cell neuroendocrine carcinoma|small cell neuroendocrine carcinoma of urinary bladder|small cell bladder cancer|bladder small cell neuroendocrine cancer|small cell carcinoma of urinary bladder|poorly differentiated neuroendocrine carcinoma of the bladder|small cell bladder carcinoma|small cell carcinoma of the bladder|small cell neuroendocrine carcinoma of the urinary bladder|small cell/neuroendocrine carcinoma of urinary bladder|urinary bladder small cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004114	A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ.	UMLS:CN202866|NCIT:C9461|ORPHA:284400|UMLS:C1332564|DOID:7132
MONDO:0006779	heart aneurysm	biolink:Disease	mondo	MESH:D006322|DOID:9768|SCTID:65340007|ICD10:I25.3|MedDRA:10002350|EFO:1000959|UMLS:C0018789|ICD9:414.10|ICD9:414.19		cardiac aneurysm	http://purl.obolibrary.org/obo/MONDO_0006779	A localized bulging or dilatation in the muscle wall of a heart (myocardium), usually in the left ventricle. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are hematoma caused by myocardial rupture.	MESH:D006322|SNOMEDCT:65340007|UMLS:C0018789|DOID:9768
MONDO:0004117	ampulla of vater small cell neuroendocrine carcinoma	biolink:Disease	mondo	NCIT:C6655|DOID:7136|UMLS:C1332250		small cell neuroendocrine carcinoma of the ampullary region|ampulla of Vater small cell NEC|hepatopancreatic ampulla small cell carcinoma|ampulla of Vater small cell neuroendocrine carcinoma|ampullary small cell carcinoma|ampulla of Vater small cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004117	An aggressive neuroendocrine carcinoma arising from the ampulla of Vater and the periampullary region. Morphologically, it is characterized by the presence of small malignant cells, necrosis, and a high mitotic rate. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss.	UMLS:C1332250|NCIT:C6655|DOID:7136
MONDO:0006776	obsolete hairy cell leukemia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006776		
MONDO:0004116	esophageal small cell neuroendocrine carcinoma	biolink:Disease	mondo	UMLS:C1112474|NCIT:C6762|DOID:7134		esophageal small cell neuroendocrine carcinoma|esophageal small cell NEC|Oat cell carcinoma of the esophagus|esophagus small cell carcinoma|esophagus Oat cell carcinoma|small cell carcinoma, esophagus|esophageal Oat cell carcinoma|Oat cell carcinoma of esophagus|small cell carcinoma of the esophagus|small cell carcinoma of esophagus|esophageal small cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004116	An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the esophagus. It is characterized by the presence of malignant small cells.	NCIT:C6762|UMLS:C1112474|DOID:7134
MONDO:0006777	hairy tongue	biolink:Disease	mondo	UMLS:C0040414|SCTID:255225007|EFO:1000957|DOID:13500|MedDRA:10043960|ICD9:529.8|NCIT:C35075|MESH:D014064		hairy Tongues|Tongues, hairy|overgrowth of filiform papillae|hairy tongue	http://purl.obolibrary.org/obo/MONDO_0006777	A benign condition affecting the dorsum of the tongue. It is characterized by defective desquamation resulting in elongation of the filiform papillae. The dorsum of the tongue has a furry appearance and is usually stained black.	DOID:13500|UMLS:C0040414|SNOMEDCT:255225007|MESH:D014064|NCIT:C35075
MONDO:0004111	refractory hematologic cancer	biolink:Disease	mondo	UMLS:C1335724|DOID:712|NCIT:C27357		refractory hematologic malignancy|refractory hematologic cancer	http://purl.obolibrary.org/obo/MONDO_0004111	A hematologic malignancy that is resistant to treatment.	DOID:712|NCIT:C27357|UMLS:C1335724
MONDO:0006774	habitual spontaneous abortion	biolink:Disease	mondo	MESH:D000026|ICD10:N96|EFO:1000954|SCTID:102878001|MedDRA:10062935			http://purl.obolibrary.org/obo/MONDO_0006774	Three or more consecutive spontaneous abortions.	SNOMEDCT:102878001|MESH:D000026
MONDO:0004110	refractory hairy cell leukemia	biolink:Disease	mondo	UMLS:C0279780|NCIT:C8030|DOID:711		hairy cell leukemia, refractory|refractory hairy cell leukemia	http://purl.obolibrary.org/obo/MONDO_0004110	Hairy cell leukemia that is resistant to treatment.	NCIT:C8030|UMLS:C0279780|DOID:711
MONDO:0006775	obsolete haemophilus influenzae meningitis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006775		
MONDO:0004113	obsolete HCL-v	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004113		
MONDO:0006772	glycogen storage disease VIII	biolink:Disease	mondo	SCTID:41527003|GARD:0006538|UMLS:C0017927|MESH:D006015|MedDRA:10053242|DOID:2751|EFO:1000952	gard_rare	glycogenosis type 8|hepatic glycogen phosphorylase kinase deficiency|glycogen storage disease VIII|hepatic phosphorylase kinase deficiency|glycogen storage disease 8|phosphorylase kinase deficiency of liver|glycogenosis type VIII|PYKL|glycogen storage disease type VIII	http://purl.obolibrary.org/obo/MONDO_0006772	An X-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon.	MESH:D006015|DOID:2751|UMLS:C0017927|SNOMEDCT:41527003
CHEBI:36902	chalcogen hydride	biolink:ChemicalSubstance	mondo			chalcogen hydrides|chalcogen hydride	http://purl.obolibrary.org/obo/CHEBI_36902		
MONDO:0006773	gonadal tissue neoplasm	biolink:Disease	mondo	UMLS:C0206722|EFO:1000953|MESH:D018309			http://purl.obolibrary.org/obo/MONDO_0006773	Neoplasms composed of tissues of the ovary or the testis, not neoplasms located in the ovaries or testes. Gonadal tissues include germ cells, cells from the sex cord, and gonadal stromal cells.	UMLS:C0206722|MESH:D018309
MONDO:0004112	radiation cystitis	biolink:Disease	mondo	NCIT:C123174|DOID:7127|ICD10:N30.4|COHD:201353|UMLS:C0156270|SCTID:11251000|ICD9:595.82		irradiation cystitis	http://purl.obolibrary.org/obo/MONDO_0004112	Inflammation of the bladder due to irradiation.	UMLS:C0156270|SNOMEDCT:11251000|NCIT:C123174|DOID:7127
MONDO:0006770	giant cell reparative granuloma	biolink:Disease	mondo	ICD9:526.3|DOID:1866|SCTID:15350006|ICD10:M27.1|UMLS:C0162375|NCIT:C121893|EFO:1000950|MESH:D006101		central giant cell (reparative) granuloma|central giant cell granuloma|central giant cell reparative granuloma of jaw|GCLSB|giant cell lesion of small bones	http://purl.obolibrary.org/obo/MONDO_0006770	A rare tumor-like lesion of the hands and feet characterized by the presence of hemorrhagic fibrous tissue, hemosiderin deposition, osteoclast-like giant cells which are irregularly distributed, and reactive bone formation. Pain and swelling are the most frequent symptoms. It may recur following curettage, but is usually cured after a second procedure.	MESH:D006101|SNOMEDCT:15350006|DOID:1866|UMLS:C0162375|NCIT:C121893
CHEBI:36908	argon molecular entity	biolink:ChemicalSubstance	mondo			argon molecular entity|argon compounds|argon molecular entities	http://purl.obolibrary.org/obo/CHEBI_36908		
MONDO:0006771	glossitis	biolink:Disease	mondo	SCTID:45534005|DOID:1456|COHD:436147|UMLS:C0017675|EFO:1000951|MedDRA:10018386|ICD9:529.0|MESH:D005928|ICD10:K14.0		inflammation of tongue|tongue inflammation	http://purl.obolibrary.org/obo/MONDO_0006771	Inflammation of the tongue.	NCIT:C112199|DOID:1456|UMLS:C0017675|MESH:D005928|SNOMEDCT:45534005
HGNC:26257	PDZD7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26257		
MONDO:0016108	autosomal dominant distal myopathy	biolink:Disease	mondo	UMLS:CN229018|ICD10:G71.0|Orphanet:206650	ordo_group_of_disorders	distal myopathy, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0016108	Autosomal dominant form of distal myopathy.	ORPHA:206650|UMLS:CN229018
ECTO:9001655	cofactor exposure	biolink:OntologyClass	mondo			exposure to cofactor	http://purl.obolibrary.org/obo/ECTO_9001655	An exposure to cofactor.	
MONDO:0016109	autosomal recessive distal myopathy	biolink:Disease	mondo	UMLS:CN229019|ICD10:G71.0|Orphanet:206653	ordo_group_of_disorders	distal myopathy, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0016109	Autosomal recessive form of distal myopathy.	UMLS:CN229019|ORPHA:206653
MONDO:0018767	severe primary trimethylaminuria	biolink:Disease	mondo	Orphanet:468726|ICD10:E88.8	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018767		ORPHA:468726
MONDO:0016104	infectious disease with peripheral neuropathy	biolink:Disease	mondo	NCIT:C27589|Orphanet:206613|UMLS:C1278821	ordo_group_of_disorders	peripheral nerve infection|peripheral nervous system infectious disorder	http://purl.obolibrary.org/obo/MONDO_0016104	An infectious process affecting the peripheral nerves.	UMLS:C1278821|ORPHA:206613|NCIT:C27589
MONDO:0016105	acquired skeletal muscle disease	biolink:Disease	mondo	Orphanet:206638|UMLS:CN200878	ordo_group_of_disorders	acquired skeletal muscle disease	http://purl.obolibrary.org/obo/MONDO_0016105	An instance of skeletal muscle disease that is acquired during the lifetime of the individual.	UMLS:CN200878|ORPHA:206638
MONDO:0018766	chronic enteropathy associated with SLCO2A1 gene	biolink:Disease	mondo	Orphanet:468641	ordo_disease	CEAS	http://purl.obolibrary.org/obo/MONDO_0018766		ORPHA:468641
MONDO:0018769	isosporiasis	biolink:Disease	mondo	NCIT:C4076|SCTID:371423007|MedDRA:10023076|UMLS:C0311386|DOID:2112|ICD10:A07.3|EFO:0007232|MESH:D021865|GARD:0003033|Orphanet:472	ordo_disease	Cystoisospora belli disease or disorder|infection by Isospora belli and Isospora hominis|Isosporosis|cystoisosporiasis|Cystoisospora belli infectious disease|Cystoisospora belli caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0018769	An intestinal infection with Isospora belli.	ORPHA:472|SNOMEDCT:371423007|DOID:2112|UMLS:C0311386|NCIT:C4076|MESH:D021865|MEDDRA:10023076
MONDO:0016106	progressive muscular dystrophy	biolink:Disease	mondo	UMLS:CN241791|GARD:0012583|Orphanet:206644|ICD10:G71.0	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016106		UMLS:CN241791|ORPHA:206644
MONDO:0016107	myotonic dystrophy	biolink:Disease	mondo	MedDRA:10068871|NCIT:C84914|MESH:D009223|SCTID:240104008|ICD10:G71.1|Orphanet:206647|GARD:0010419|UMLS:C0027126|ICD9:359.2|OMIMPS:160900|DC:0000127|DOID:450	ordo_group_of_disorders	myotonia dystrophica|inherited myotonic dystrophy|myotonic disease|myotonia atrophica	http://purl.obolibrary.org/obo/MONDO_0016107	An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies.	SNOMEDCT:240104008|MESH:D009223|DOID:450|ORPHA:206647|MEDDRA:10068871|NCIT:C84914|UMLS:C0027126
MONDO:0018768	familial cold autoinflammatory syndrome	biolink:Disease	mondo	DC:0000146|MedDRA:10064570|OMIMPS:120100|GARD:0009535|ICD10:L50.2|DOID:0090061|UMLS:CN230757|NCIT:C119053|Orphanet:47045|UMLS:C0343068	ordo_disease	familial cold urticaria|familial cold autoinflammatory syndrome|FCU|familial polymorphous cold eruption|FCAS	http://purl.obolibrary.org/obo/MONDO_0018768	Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.	UMLS:C0343068|UMLS:CN230757|MEDDRA:10064570|DOID:0090061|ORPHA:47045|NCIT:C119053
MONDO:0016100	rippling muscle disease with myasthenia gravis	biolink:Disease	mondo	UMLS:CN200870|ICD10:G70.8|Orphanet:206575	ordo_disease	immune-mediated rippling muscle disease|acquired rippling muscle disease|Rmd-MG	http://purl.obolibrary.org/obo/MONDO_0016100		UMLS:CN200870|ORPHA:206575
MONDO:0018763	Tubulinopathy-associated dysgyria	biolink:Disease	mondo	UMLS:CN242152|Orphanet:467166	ordo_disease	brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0018763		ORPHA:467166|UMLS:CN242152
MONDO:0016101	neurolymphomatosis	biolink:Disease	mondo	SCTID:766752000|UMLS:C0024793|GARD:0006974|Orphanet:206586|MESH:D008380	ordo_disease	fowl paralyses|Marek disease|fowl paralysis|Marek's disease	http://purl.obolibrary.org/obo/MONDO_0016101	A transmissible viral disease of birds caused by avian herpesvirus 2 (herpesvirus 2, gallid) and other mardivirus. There is lymphoid cell infiltration or lymphomatous tumor formation in the peripheral nerves and gonads, but may also involve visceral organs, skin, muscle, and the eye.	MESH:D008380|UMLS:C0024793|ORPHA:206586|SNOMEDCT:766752000
MONDO:0018762	non-acquired combined pituitary hormone deficiency	biolink:Disease	mondo	ICD10:E23.0|Orphanet:467	ordo_group_of_disorders	congenital combined pituitary hormone deficiency|congenital hypopituitarism	http://purl.obolibrary.org/obo/MONDO_0018762	Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis.	ORPHA:467
MONDO:0018765	cryptogenic multifocal ulcerous stenosing enteritis	biolink:Disease	mondo	UMLS:C4302263|Orphanet:468635|SCTID:722849002	ordo_disease	CMUSE	http://purl.obolibrary.org/obo/MONDO_0018765		UMLS:C4302263|SNOMEDCT:722849002|ORPHA:468635
MONDO:0016102	subacute inflammatory demyelinating polyneuropathy	biolink:Disease	mondo	UMLS:C0456517|Orphanet:206594|SCTID:277189006|ICD10:G61.8	ordo_disease	SIDP|Subacute inflammatory demyelinating polyradiculoneuropathy	http://purl.obolibrary.org/obo/MONDO_0016102	Subacute inflammatory demyelinating polyneuropathy (SIDP) is a subacute progressive symmetric sensorial and/or motor disorder characterized by muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. SIDP is an intermediate form between Guillain-BarrC) syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP).	SNOMEDCT:277189006|ORPHA:206594|UMLS:C0456517
MONDO:0016103	isolated asymptomatic elevation of creatine phosphokinase	biolink:Disease	mondo	DOID:0111338|Orphanet:206599|NCIT:C148327	ordo_biological_anomaly	isolated asymptomatic hyperCKemia|idiopathic asymptomatic hyperCKemia|hyperCKmia|isolated hyperCKemia	http://purl.obolibrary.org/obo/MONDO_0016103	Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood. In affected individuals, levels of this enzyme are typically 3 to 10 times higher than normal. While elevated creatine kinase often accompanies various muscle diseases, individuals with isolated hyperCKemia have no muscle weakness or other symptoms. Some people with this condition have abnormalities of muscle cells that can be seen with a microscope, such as unusual variability in the size of muscle fibers, but these changes do not affect the function of the muscle.	DOID:0111338|ORPHA:206599|NCIT:C148327
MONDO:0018764	microcephalic primordial dwarfism due to RTTN deficiency	biolink:Disease	mondo	Orphanet:468631	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0018764	Microcephalic primordial dwarfism due to RTTN deficiency is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by primary microcephaly, profound short stature, moderate to severe intellectual disability, global developmental delay, craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) and variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum and deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive and a sacral lesion cephalad to the gluteal crease have also been reported.	ORPHA:468631
MONDO:0018761	SMARCA4-deficient sarcoma of thorax	biolink:Disease	mondo	Orphanet:466962|DOID:0080532|UMLS:CN242100	ordo_disease	SMARCA4-deficient thoracic sarcoma	http://purl.obolibrary.org/obo/MONDO_0018761		ORPHA:466962|UMLS:CN242100|DOID:0080532
MONDO:0018760	WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome	biolink:Disease	mondo	UMLS:CN242159|Orphanet:466943	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0018760		ORPHA:466943|UMLS:CN242159
MONDO:0004129	cloacogenic carcinoma	biolink:Disease	mondo	DOID:7173|ICDO:8124/3|NCIT:C8255|MESH:C563020		cloacogenic carcinoma of the anus|anal canal cloacogenic carcinoma|cloacogenic carcinoma (morphologic abnormality)|anal canal cloacogenic cancer|anal cloacogenic carcinoma|cloacogenic anal carcinoma|cloacogenic carcinoma of anus	http://purl.obolibrary.org/obo/MONDO_0004129	An anal carcinoma arising from the transitional zone of the anal canal.	NCIT:C8255|MESH:C563020|DOID:7173
MONDO:0004126	thyroiditis (disease)	biolink:Disease	mondo	COHD:133444|HP:0100646|ICD10:E06|NCIT:C26894|ICD9:245|UMLS:C0040147|ICD9:245.9|ICD10:E06.9|DOID:7166|MESH:D013966|SCTID:82119001		thyroid gland inflammation|thyroiditis|inflammation of thyroid gland	http://purl.obolibrary.org/obo/MONDO_0004126	Inflammation of the thyroid gland. This category includes Hashimoto thyroiditis, Riedel thyroiditis, acute thyroiditis, subacute thyroiditis, and radiation-induced thyroiditis.	SNOMEDCT:82119001|MESH:D013966|UMLS:C0040147|NCIT:C26894|DOID:7166
MONDO:0006789	hyperamylasemia	biolink:Disease	mondo	MedDRA:10062777|EFO:1000969|MESH:D034321			http://purl.obolibrary.org/obo/MONDO_0006789	Abnormally high level of amylase in the blood.	MESH:D034321|NCIT:C113755
MONDO:0004125	rectum leiomyoma	biolink:Disease	mondo	DOID:7160|NCIT:C5552|UMLS:C1335682		leiomyoma of rectum|leiomyoma of the rectum|rectum leiomyoma|rectal leiomyoma	http://purl.obolibrary.org/obo/MONDO_0004125	A well-circumscribed benign smooth muscle neoplasm arising from the rectum. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	NCIT:C5552|DOID:7160|UMLS:C1335682
MONDO:0006787	hidrocystoma	biolink:Disease	mondo	ICDO:8404/0|DOID:3893|SCTID:254725004|MESH:D018251|ICD9:709.8|MedDRA:10059019|EFO:1000967|UMLS:C0206672|NCIT:C3760		hidrocystoma (morphologic abnormality)|eccrine hidrocystoma of skin|apocrine/eccrine hidrocystoma|eccrine cystadenoma|hidrocystoma|cystadenoma|Hydrocystoma|apocrine cystadenoma	http://purl.obolibrary.org/obo/MONDO_0006787	A benign cystic proliferation of the sweat glands with apocrine or eccrine differentiation. It usually presents as a dome-shaped, cystic papular or nodular lesion usually in the face and neck. It is a unilocular or mutlilocular lesion lined by an inner and an outer layer of epithelium. Complete excision is usually curative.	UMLS:C0206672|SNOMEDCT:254725004|MESH:D018251|DOID:3893|NCIT:C3760
MONDO:0004128	lung occult large cell carcinoma	biolink:Disease	mondo	NCIT:C6685|DOID:7169|UMLS:C1335095		occult large cell lung carcinoma|occult large cell carcinoma of lung|occult large cell carcinoma of the lung	http://purl.obolibrary.org/obo/MONDO_0004128	A large cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed.	NCIT:C6685|UMLS:C1335095|DOID:7169
MONDO:0004127	lung occult adenocarcinoma	biolink:Disease	mondo	NCIT:C6699|DOID:7168|UMLS:C1335096		occult lung adenocarcinoma|occult adenocarcinoma of the lung|occult adenocarcinoma of lung	http://purl.obolibrary.org/obo/MONDO_0004127	A lung adenocarcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed.	NCIT:C6699|UMLS:C1335096|DOID:7168
MONDO:0006788	hydrophthalmos	biolink:Disease	mondo	EFO:1000968|ICD10:Q15.0|DOID:11212|MESH:D006871|ICD9:743.20|ICD9:743.2			http://purl.obolibrary.org/obo/MONDO_0006788	Abnormal enlargement of the eye	DOID:11212|MESH:D006871
MONDO:0004122	thymus small cell carcinoma	biolink:Disease	mondo	NCIT:C6460|UMLS:C1335980|DOID:7142|EFO:1000578		thymic small cell carcinoma neuroendocrine type|small cell carcinoma of the Thymus|thymic small cell carcinoma|small cell carcinoma of Thymus|small cell carcinoma of thymus|thymus small cell carcinoma|Thymus small cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004122	An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies.	NCIT:C6460|DOID:7142|UMLS:C1335980
MONDO:0006785	Henoch-Schoenlein purpura	biolink:Disease	mondo	ICD9:287.0|ICD10:D69.0|MESH:D011695|EFO:1000965|DOID:11123|NCIT:C34963|SCTID:191306005		Henoch-SCh?nlein purpura|Henoch-SCh@nlein purpura|HSP|Henoch-SChönlein purpura|allergic purpura|Henoch-Schonlein purpura|Schoenlein-Henoch purpura|autoimmune purpura|Henoch-Scholein purpura|purpura, autoimmune	http://purl.obolibrary.org/obo/MONDO_0006785	A systemic, usually self-limited immune complex vasculitis, characterized by immunoglobulin A deposition in the small vessels and kidneys. It is manifested with small hemorrhages in the skin, gastrointestinal symptoms, arthritis, and nephropathy.	NCIT:C34963|SNOMEDCT:191306005|MESH:D011695|DOID:11123
CHEBI:36915	inorganic cation	biolink:ChemicalSubstance	mondo			inorganic cations	http://purl.obolibrary.org/obo/CHEBI_36915		
MONDO:0006786	hepatic vein thrombosis	biolink:Disease	mondo	SCTID:38739001|DOID:11512|MedDRA:10006537|EFO:1000966|MedDRA:10019713|ICD9:453.0|ICD10:I82.0		hepatic vein thrombosis|Budd-Chiari syndrome	http://purl.obolibrary.org/obo/MONDO_0006786	A condition in which the hepatic venous outflow is obstructed anywhere from the small hepatic veins to the junction of the inferior vena cava and the right atrium. Usually the blockage is extrahepatic and caused by blood clots (thrombus) or fibrous webs. Parenchymal fibrosis is uncommon.	SNOMEDCT:38739001|DOID:11512
CHEBI:36916	cation	biolink:ChemicalSubstance	mondo			cations|cationes|Kation|Cation|cation|Kationen	http://purl.obolibrary.org/obo/CHEBI_36916	A monoatomic or polyatomic species having one or more elementary charges of the proton.	
MONDO:0004121	obsolete prostate small cell carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004121		
MONDO:0004124	prostate stromal sarcoma	biolink:Disease	mondo	DOID:7152|UMLS:C1335521|NCIT:C5524		stromal sarcoma of prostate|prostate stromal sarcoma|stromal sarcoma of the prostate	http://purl.obolibrary.org/obo/MONDO_0004124	A rare malignant neoplasm arising from specialized prostatic stroma. It is characterized by the presence of stromal overgrowth and hypercellularity, increased number of mitotic figures, and pleomorphism.	NCIT:C5524|UMLS:C1335521|DOID:7152
MONDO:0006783	hemopneumothorax	biolink:Disease	mondo	ICD10:J94.2|UMLS:C0019077|SCTID:16632002|EFO:1000963|DOID:2718|MedDRA:10060632|MESH:D006468|ICD9:511.89			http://purl.obolibrary.org/obo/MONDO_0006783	Collection of air and blood in the pleural cavity.	UMLS:C0019077|MESH:D006468|DOID:2718|SNOMEDCT:16632002
MONDO:0043731	lytic metastatic bone lesion	biolink:Disease	mondo	EFO:1001821|MESH:D010014|SCTID:203522001|NCIT:C35371		osteolytic lesion|osteolysis|Osteolyses|lytic metastatic bone lesion	http://purl.obolibrary.org/obo/MONDO_0043731	Dissolution of bone that particularly involves the removal or loss of calcium.	NCIT:C35371|MESH:D010014|SNOMEDCT:203522001
CHEBI:36914	inorganic ion	biolink:ChemicalSubstance	mondo			inorganic ions	http://purl.obolibrary.org/obo/CHEBI_36914		
MONDO:0006784	hemorrhagic disease of newborn	biolink:Disease	mondo	MESH:D006475|SCTID:12546009|NCIT:C111857|MedDRA:10019601|EFO:1000964|ICD9:776.0|ICD10:P53		hemorrhagic disease of newborn|vitamin K deficiency bleeding in newborn	http://purl.obolibrary.org/obo/MONDO_0006784	A condition characterized as a coagulation disturbance in newborns due to vitamin K deficiency resulting in impaired production of coagulation factors II, VII, IX, and X, and proteins C and S by the liver.	MESH:D006475|NCIT:C111857|SNOMEDCT:12546009
MONDO:0004123	obsolete laryngeal small cell carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004123		
HGNC:26262	TTI2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26262		
MONDO:0006781	Helicobacter pylori infectious disease	biolink:Disease	mondo	EFO:1000961|MESH:D016481		Helicobacter pylori disease or disorder|infection, Helicobacter|Helicobacter pylori infection, susceptibility to|infections, Helicobacter|Helicobacter pylori caused disease or disorder|Helicobacter infection	http://purl.obolibrary.org/obo/MONDO_0006781	Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease.	MESH:D016481
MONDO:0006782	hemometra	biolink:Disease	mondo	DOID:9958|COHD:195876|ICD10:N85.7|EFO:1000962|SCTID:38280009|MESH:D006409|ICD9:621.4		hematometra	http://purl.obolibrary.org/obo/MONDO_0006782	Blood-filled uterus.	MESH:D006409|DOID:9958|SNOMEDCT:38280009
MONDO:0004120	Bartholin gland small cell carcinoma	biolink:Disease	mondo	NCIT:C40298|UMLS:C1511051|DOID:7140		small cell carcinoma of major vestibular gland|Bartholin gland small cell carcinoma|Bartholin's gland small cell carcinoma|major vestibular gland small cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004120	A rare neuroendocrine carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant small cells and high mitotic activity.	UMLS:C1511051|DOID:7140|NCIT:C40298
HGNC:26267	POMK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26267		
MONDO:0006780	heartwater disease	biolink:Disease	mondo	MESH:D006357|UMLS:C0018835|EFO:1000960		disease, heartwater	http://purl.obolibrary.org/obo/MONDO_0006780	A tick-borne septicemic disease of domestic and wild ruminants caused by ehrlichia ruminantium.	MESH:D006357|UMLS:C0018835
MONDO:0043726	multiple organ dysfunction syndrome	biolink:Disease	mondo	MESH:D009102|SCTID:57653000		multisystem organ failure|failure, multiple organ|organ failure, multiple|multiple organ failure|multiple organ systems failure|multiple systems organ failure|organ dysfunction syndrome, multiple|multiple organ system failure|MODS|multiple organ dysfunction syndrome|multiple organ failures|multi-organ failure|multiorgan failure	http://purl.obolibrary.org/obo/MONDO_0043726	The development of potentially reversible physiologic derangement involving two or more organ systems not involved in the disorder that resulted in intensive care unit (ICU) admission, and arising in the wake of a potentially life-threatening physiologic insult.	SNOMEDCT:57653000|MESH:D009102
MONDO:0018759	childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome	biolink:Disease	mondo	Orphanet:466921|UMLS:CN776870	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018759		ORPHA:466921|UMLS:CN776870
MONDO:0043723	Monteggia's fracture	biolink:Disease	mondo	EFO:1001373|MESH:D009011|SCTID:123973009		Monteggia fracture|monteggia fracture dislocation|fracture, Monteggia's|monteggia fracture|Monteggias fracture|monteggia's fracture|monteggia's dislocation	http://purl.obolibrary.org/obo/MONDO_0043723	Fracture in the proximal half of the shaft of the ulna, with dislocation of the head of the radius.	MESH:D009011|SNOMEDCT:123973009
MONDO:0018756	euthyroid Graves orbitopathy	biolink:Disease	mondo	ICD10:H05.2|Orphanet:466682	ordo_disease	euthyroid Graves ophthalmopathy	http://purl.obolibrary.org/obo/MONDO_0018756		ORPHA:466682
MONDO:0018755	scorpion envenomation	biolink:Disease	mondo	Orphanet:466677|SCTID:217670007|UMLS:CN242103|ICD10:T63.2	ordo_disease	poisoning caused by scorpion venom|toxic effect of venom of scorpion|poisoning due to scorpion venom	http://purl.obolibrary.org/obo/MONDO_0018755	Scorpion envenomation is a rare intoxication caused by a scorpion sting which typically manifests with localized pain, edema, erythema, and paresthesias at the site of the sting and, when severe, progresses to produce systemic symptoms of variable severity that include respiratory difficulties, abnormal systemic blood pressure, cardiac arrhythmia, and a combination of parasympathetic (i.e. excessive salivation and lacrimation, diaphoresis, miosis, frequent urination, diarrhea, vomiting, priapism) and sympathetic (e.g. hyperthermia, hyperglycemia, mydriasis) manifestations. Neurological manifestations may also be associated, such as abnormal eye movements, blurred vision, agitation and restlessness, as well as muscle fasciculations and spasms. Signs and symptoms are highly variable and in most severe cases may lead to cardiogenic shock and pulmonary edema.	UMLS:CN242103|ORPHA:466677|SNOMEDCT:217670007
MONDO:0018758	familial patent arterial duct	biolink:Disease	mondo	UMLS:CN242171|Orphanet:466729	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0018758	Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities.	UMLS:CN242171|ORPHA:466729
MONDO:0018757	supratip dysplasia	biolink:Disease	mondo	ICD10:J34.8|Orphanet:466695	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0018757	Supratip dysplasia is a rare, congenital, non-syndromic, nose and cavum malformation characterized by the presence of a bulbous, soft tissue hypertrophy located in the middle-to-distal third of the nasal dorsum, in association with deformed, slightly laterally- and caudally-placed nasal alae and a scar-like atrophic skin lesion located at the nasal tip. Respiratory function is not affected.	ORPHA:466695
MONDO:0018752	exercise-induced malignant hyperthermia	biolink:Disease	mondo	SCTID:735907005|Orphanet:466650|ICD10:T88.3	ordo_disease	Exertional heat stroke	http://purl.obolibrary.org/obo/MONDO_0018752		ORPHA:466650|SNOMEDCT:735907005
HGNC:14287	NLGN4X	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14287		
MONDO:0018751	genetic otorhinolaryngologic disease	biolink:Disease	mondo	UMLS:CN242186|Orphanet:466084	ordo_group_of_disorders	genetic otorhinolaryngologic disease	http://purl.obolibrary.org/obo/MONDO_0018751	An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome.	ORPHA:466084|UMLS:CN242186
MONDO:0018754	cyanide poisoning	biolink:Disease	mondo	UMLS:CN242145|SCTID:66207005|ICD9:989.0|Orphanet:466670|ICD10:T65.0	ordo_clinical_situation		http://purl.obolibrary.org/obo/MONDO_0018754		UMLS:CN242145|ORPHA:466670|SNOMEDCT:66207005
HGNC:14289	NLGN3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14289		
MONDO:0018753	rare disease with malignant hyperthermia	biolink:Disease	mondo	Orphanet:466658|UMLS:CN242072	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0018753		UMLS:CN242072|ORPHA:466658
MONDO:0018750	class I glucose-6-phosphate dehydrogenase deficiency	biolink:Disease	mondo	Orphanet:466026	ordo_disease	Class I G6PD deficiency|severe hemolytic anemia due to G6PD deficiency	http://purl.obolibrary.org/obo/MONDO_0018750		ORPHA:466026
MONDO:0006758	female genital tuberculosis	biolink:Disease	mondo	MedDRA:10061150|MESH:D014384|SCTID:74181004|EFO:1000935			http://purl.obolibrary.org/obo/MONDO_0006758	Mycobacterium infections of the female reproductive tract (genitalia, female).	MESH:D014384|SNOMEDCT:74181004
MONDO:0006759	femoral neuropathy	biolink:Disease	mondo	ICD10:G57.20|NCIT:C27595|MESH:D020428|ICD9:355.2|SCTID:25690000|COHD:439807|ICD10:G57.2|UMLS:C0751931|EFO:1000936|DOID:4196		peripheral nerve lesion of femoral nerve|femoral nerve dysfunction|femoral nerve lesions|femoral nerve peripheral nerve lesion	http://purl.obolibrary.org/obo/MONDO_0006759	Neuropathy of the femoral nerve.	MESH:D020428|DOID:4196|SNOMEDCT:25690000|UMLS:C0751931|NCIT:C27595
MONDO:0006756	obsolete extracutaneous mastocytoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006756		
MONDO:0006757	extrahepatic cholestasis	biolink:Disease	mondo	UMLS:C0005398|SCTID:8262006|DOID:13619|MESH:D001651|MedDRA:10008637|EFO:1000933		extrahepatic bile duct cholestasis|extrahepatic biliary stasis|extrahepatic cholestasis (finding)|cholestasis of extrahepatic bile duct|extrahepatic obstructive biliary disease	http://purl.obolibrary.org/obo/MONDO_0006757	Impairment of the bile flow caused by an obstruction in the portion of the bile duct system located outside of the liver.	SNOMEDCT:8262006|MESH:D001651|NCIT:C34420|DOID:13619|UMLS:C0005398
MONDO:0006754	esophageal diverticulosis	biolink:Disease	mondo	EFO:1000930|MESH:D045723|UMLS:C0917875|DOID:13185			http://purl.obolibrary.org/obo/MONDO_0006754	A pathological condition characterized by the presence of a number of esophageal diverticula in the esophagus.	MESH:D045723|UMLS:C0917875|DOID:13185
MONDO:0006755	euthyroid sick syndrome	biolink:Disease	mondo	EFO:1000931|MESH:D005067|UMLS:C0015190|NCIT:C113170|SCTID:237542005|DOID:2856|ICD10:E07.81|MedDRA:10015549|ICD9:790.94|COHD:137991		euthyroid sick syndrome|sick-euthyroid syndrome|sick euthyroid syndrome	http://purl.obolibrary.org/obo/MONDO_0006755	Abnormal thyroid function tests, low triiodothyronine with elevated reverse triiodothyronine, in the setting of non-thyroidal illness.	SNOMEDCT:237542005|NCIT:C113170|MESH:D005067|DOID:2856|UMLS:C0015190
MONDO:0006752	Erysipelothrix rhusiopathiae infectious disease	biolink:Disease	mondo	EFO:1000928		Erysipelothrix rhusiopathiae caused disease or disorder|Erysipelothrix rhusiopathiae disease or disorder	http://purl.obolibrary.org/obo/MONDO_0006752	A disease caused by infection with Erysipelothrix rhusiopathiae.	
MONDO:0006753	Escherichia coli meningitis	biolink:Disease	mondo	MESH:D020814|EFO:1000929|ICD9:320.82|SCTID:192655005|ICD9:320.7|UMLS:C0338395			http://purl.obolibrary.org/obo/MONDO_0006753	A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as opportunistic infections in association with immunologic deficiency syndromes. In premature neonates the clinical presentation may be limited to anorexia; vomiting; lethargy; or respiratory distress. Full-term infants may have as additional features fever; seizures; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400)	MESH:D020814|SNOMEDCT:192655005|UMLS:C0338395
MONDO:0006750	obsolete Erdheim-Chester disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006750		
HGNC:26230	TM4SF20	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26230		
MONDO:0006751	Erysipelothrix infectious disease	biolink:Disease	mondo	SCTID:367434002|EFO:1000927|MESH:D004889|UMLS:C0014736		Erysipelothrix caused disease or disorder|Erysipelothrix disease or disorder|infection, Erysipelothrix|infections, Erysipelothrix|Erysipelothrix infection	http://purl.obolibrary.org/obo/MONDO_0006751	Infections with bacteria of the genus erysipelothrix.	UMLS:C0014736|SNOMEDCT:367434002|MESH:D004889
UBERON:0003395	mesentery of rectum	biolink:AnatomicalEntity	mondo			rectum mesentery	http://purl.obolibrary.org/obo/UBERON_0003395	A mesentery that is part of a rectum [Automatically generated definition].	
MONDO:0018749	hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	biolink:Disease	mondo	HGNC:5153|ICD10:D56.4|HGNC:3627|UMLS:CN205122|Orphanet:46532	ordo_disease	HPFH-beta-thalassemia syndrome	http://purl.obolibrary.org/obo/MONDO_0018749	Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells.	ORPHA:46532|UMLS:CN205122
UBERON:0003396	mesentery of colon	biolink:AnatomicalEntity	mondo			mesentery of large intestine|colon mesentery|mesocolon|large intestinal mesentery|large bowel mesentery|mesentery of large bowel	http://purl.obolibrary.org/obo/UBERON_0003396	A mesentery that is part of a colon [Automatically generated definition].	
MONDO:0018748	linear IgA Dermatosis	biolink:Disease	mondo	SCTID:95330001|GARD:0010960|UMLS:C0406650|MESH:D062027|Orphanet:46488|MedDRA:10024515|ICD10:L10.8	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018748	Autoimmune disease characterized by subepidermal blisters and linear deposition of autoantibodies at the dermoepidermal junction. The accumulated autoantibodies are of immunoglobulin A and occasionally immunoglobulin G classes against epidermal basement membrane proteins. The dermatosis is sometimes associated with malignancies and use of certain drugs (e.g., vancomycin).	ORPHA:46488|MEDDRA:10024515|UMLS:C0406650|SNOMEDCT:95330001|MESH:D062027
UBERON:0003393	mesentery of urinary system	biolink:AnatomicalEntity	mondo			mesentery of systema urinaria|mesentery of renal system|excretory system mesentery|urinary system mesentery|systema urinaria mesentery|renal system mesentery|mesentery of excretory system	http://purl.obolibrary.org/obo/UBERON_0003393	A mesentery that is part of a urinary system [Automatically generated definition].	
UBERON:0003394	mesentery of hindgut	biolink:AnatomicalEntity	mondo			hindgut mesentery	http://purl.obolibrary.org/obo/UBERON_0003394	A mesentery that is part of a hindgut [Automatically generated definition].	
MONDO:0018745	superficial pemphigus	biolink:Disease	mondo	UMLS:CN227541|ICD10:L10.4|ICD10:L10.3|ICD10:L10.2|Orphanet:46485	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018745	Pemphigus is a group of chronic autoimmune skin diseases characterised by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, one of which is superficial pemphigus, including the seborrheic, erythematosus, foliaceous and herpetiform variants.	ORPHA:46485|UMLS:CN227541
HGNC:14258	CD2AP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14258		
MONDO:0018744	oligodendroglial tumor	biolink:Disease	mondo	Orphanet:46484|NCIT:C6960|UMLS:CN205116|UMLS:C1335110	ordo_group_of_disorders	oligodendroglial tumor|oligodendroglial neoplasm	http://purl.obolibrary.org/obo/MONDO_0018744	Oligodendrogliomas are cerebral tumors that are differentiated from other gliomas on the basis of their unique genetic characteristics and better response to chemotherapy. These tumors are classified according to their grade (low grade oligodendrogliomas: grade II of the WHO classification and anaplastic oligodendrogliomas: grade III of the WHO classification) and according to their pure or mixed histology (oligoastrocytomas).	ORPHA:46484|UMLS:CN205116|UMLS:C1335110|NCIT:C6960
MONDO:0018747	acquired epidermolysis bullosa	biolink:Disease	mondo	GARD:0006360|DOID:4313|UMLS:C0079293|Orphanet:46487|ICD10:L12.3|MedDRA:10056508|EFO:1000691|ICD10:L12.30|ICD9:695.19|MESH:D016107|NCIT:C84690|SCTID:2772003	gard_rare|ordo_disease	epidermolysis bullosa acquisita|epidermolysis bullosa Aquisita|EBA|acquired epidermolysis bullosa|EB acquisita	http://purl.obolibrary.org/obo/MONDO_0018747	Epidermolysis bullosa acquisita (EBA) is a subepidermal bullous dermatosis of autoimmune origin that was named as a result of its resemblance to hereditary forms of epidermolysis bullosa (HEB), most notably dystrophic HEB.	ORPHA:46487|SNOMEDCT:2772003|DOID:4313|UMLS:C0079293|MEDDRA:10056508|MESH:D016107|NCIT:C84690
MONDO:0018746	mucous membrane pemphigoid	biolink:Disease	mondo	NCIT:C34907|SCTID:76092003|DOID:11656|EFO:1000680|ICD9:694.6|MedDRA:10057052|COHD:376189|ICD10:L12.1|Orphanet:46486|ICD9:694.61|GARD:0005913	ordo_disease	ocular pemphigoid|Mucosynechial pemphigoid|benign mucous Membrane pemphigoid|benign mucosal pemphigoid|ocular pemphigus|cicatricial pemphigoid|benign mucous membrane pemphigoid|benign mucous membrance pemphigoid|cicatricial pemphigoid with ocular involvement|benign mucous membrane pemphigoid with ocular involvement|mucosal pemphigoid	http://purl.obolibrary.org/obo/MONDO_0018746	Mucous membrane pemphigoid is a bullous dermatosis characterised clinically by blistering of the mucous membranes followed by scarring, and immunologically by IgG, IgA and/or C3 deposits on the epidermal basement membrane.	ORPHA:46486|SNOMEDCT:76092003|NCIT:C34907|MEDDRA:10057052|DOID:11656
MONDO:0043735	osteoradionecrosis	biolink:Disease	mondo	SCTID:109333005|MESH:D010025|NCIT:C63707		radiation necrosis of bone|Osteoradionecroses|osteoradionecrosis	http://purl.obolibrary.org/obo/MONDO_0043735	Necrosis of bone following radiation injury.	SNOMEDCT:109333005|NCIT:C63707|MESH:D010025
NCBITaxon:33758	Echovirus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_33758		
UBERON:0003390	mesothelium of pleural cavity	biolink:AnatomicalEntity	mondo			pleural cavity mesothelium|pleura|mesothelium of pleura|pleural cavity meso-epithelium|pleural mesothelium|meso-epithelium of pleural cavity	http://purl.obolibrary.org/obo/UBERON_0003390	A mesothelium that is part of a pleural cavity [Automatically generated definition].	
MONDO:0018741	paracetamol poisoning	biolink:Disease	mondo	Orphanet:464458|SCTID:70273001|ICD9:965.4	ordo_clinical_situation	acetaminophen poisoning	http://purl.obolibrary.org/obo/MONDO_0018741		ORPHA:464458|SNOMEDCT:70273001
MONDO:0018740	drug-induced methemoglobinemia	biolink:Disease	mondo	NCIT:C101045|Orphanet:464453|SCTID:191390009|UMLS:C0271905|ICD10:D74.8	ordo_disease	drug induced methemoglobinemia|acquired methemoglobinemia	http://purl.obolibrary.org/obo/MONDO_0018740	Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene).	UMLS:C0271905|NCIT:C101045|ORPHA:464453|SNOMEDCT:191390009
HGNC:14255	BRPF1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14255		
MONDO:0018743	immune-mediated acquired neuromuscular junction disease	biolink:Disease	mondo	Orphanet:464764|UMLS:CN242076	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018743		UMLS:CN242076|ORPHA:464764
MONDO:0018742	familial gastric type 1 neuroendocrine tumor	biolink:Disease	mondo	Orphanet:464756|UMLS:CN242170	ordo_disease	hereditary type 1 gNET|familial type 1 gNET	http://purl.obolibrary.org/obo/MONDO_0018742		UMLS:CN242170|ORPHA:464756
ECTO:9001630	endocrine disruptor exposure	biolink:OntologyClass	mondo			exposure to endocrine disruptor	http://purl.obolibrary.org/obo/ECTO_9001630	An exposure to endocrine disruptor.	
UBERON:0003397	mesentery of duodenum	biolink:AnatomicalEntity	mondo			duodenum mesentery	http://purl.obolibrary.org/obo/UBERON_0003397	A mesentery that is part of a duodenum [Automatically generated definition].	
UBERON:0003398	mesentery of jejunum	biolink:AnatomicalEntity	mondo			jejunal mesentery|mesojejunum|jejunum mesentery	http://purl.obolibrary.org/obo/UBERON_0003398	A mesentery that is part of a jejunum [Automatically generated definition].	
HGNC:14253	CERS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14253		
MONDO:0004108	diaphragma sellae meningioma	biolink:Disease	mondo	UMLS:C1333283|NCIT:C5283|DOID:7103		meningioma of diaphragm sellae|meningioma of the Diaphragma sellae|diaphragma sellae meningioma (disease)|meningioma of Diaphragma sellae|meningioma of the diaphragm sellae|diaphragm sellae meningioma|meningioma (disease) of diaphragma sellae	http://purl.obolibrary.org/obo/MONDO_0004108	A meningioma that affects the diaphragma sellae.	DOID:7103|UMLS:C1333283|NCIT:C5283
MONDO:0004107	splenic manifestation of leukemia	biolink:Disease	mondo	NCIT:C7296|UMLS:C1336065|DOID:710		splenic manifestation of leukemia|leukemia (disease) of spleen|spleen leukemia (disease)|splenic leukemia	http://purl.obolibrary.org/obo/MONDO_0004107	A leukemia (disease) that involves the spleen.	DOID:710|NCIT:C7296|UMLS:C1336065
MONDO:0006769	gastroparesis (disease)	biolink:Disease	mondo	ICD10:K31.84|DOID:11914|MESH:D018589|HP:0002578|ICD9:536.3|EFO:1000948|COHD:195847|UMLS:C0152020|MedDRA:10018043|SCTID:196753007		gastroparalysis|gastric atonia|gastroparesis|gastroparesis syndrome	http://purl.obolibrary.org/obo/MONDO_0006769	Paralysis of the muscles of the stomach wall resulting in delayed emptying of the gastric contents into the small intestine.	SNOMEDCT:196753007|NCIT:C80512|MESH:D018589|DOID:11914|UMLS:C0152020
MONDO:0004109	epiglottis neoplasm	biolink:Disease	mondo	UMLS:C1290353|DOID:7105|NCIT:C4933|SCTID:126699008		neoplasm of epiglottis|epiglottis tumor|epiglottic tumor|epiglottic neoplasm|tumor of Epiglottis|tumor of the Epiglottis|tumor of epiglottis|epiglottis neoplasm (disease)|neoplasm of Epiglottis|Epiglottis tumor|neoplasm of the Epiglottis	http://purl.obolibrary.org/obo/MONDO_0004109	A benign or malignant neoplasm that affects the epiglottis.	UMLS:C1290353|DOID:7105|NCIT:C4933|SNOMEDCT:126699008
MONDO:0006767	gastric antral vascular ectasia	biolink:Disease	mondo	NCIT:C84724|SCTID:43935004|GARD:0007877|MedDRA:10051585|DOID:2493|EFO:1000945|MESH:D020252		watermelon stomach|gave	http://purl.obolibrary.org/obo/MONDO_0006767	Dilatation of the vessels in the antrum of the stomach. It is associated with portal hypertension, scleroderma, and chronic renal failure. It may cause gastric bleeding.	SNOMEDCT:43935004|DOID:2493|MESH:D020252|NCIT:C84724
MONDO:0004104	splenic manifestation of hairy cell leukemia	biolink:Disease	mondo	SCTID:93151007|UMLS:C1336064|NCIT:C7301|ICD9:202.47|DOID:709		spleen hairy cell leukemia|hairy cell leukemia of spleen|splenic manifestation of hairy cell leukemia	http://purl.obolibrary.org/obo/MONDO_0004104	A hairy cell leukemia that involves the spleen.	DOID:709|NCIT:C7301|UMLS:C1336064|SNOMEDCT:93151007
MONDO:0004103	tall cell variant thyroid gland papillary carcinoma	biolink:Disease	mondo	NCIT:C35558|UMLS:C1336695|DOID:7089		tall cell variant papillary carcinoma|tall cell variant thyroid gland papillary carcinoma	http://purl.obolibrary.org/obo/MONDO_0004103	A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of tall malignant follicular cells, arranged in papillary and trabecular patterns. Necrotic changes and high mitotic activity are present.	NCIT:C35558|UMLS:C1336695|DOID:7089
MONDO:0006768	obsolete gastric outlet obstruction	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006768	Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer.	
MONDO:0006765	Fusobacterium infectious disease	biolink:Disease	mondo	ICD9:041.84|SCTID:712657002|EFO:1000943|UMLS:C4039413		infection caused by Fusobacterium|Fusobacterium disease or disorder|infection due to Fusobacterium|Fusobacterium caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0006765	Infections with bacteria of the genus fusobacterium.	UMLS:C4039413|SNOMEDCT:712657002
MONDO:0004106	testicular yolk sac tumor, macrocystic pattern	biolink:Disease	mondo	NCIT:C39924|DOID:7097|UMLS:C1515307		macrocystic pattern testicular yolk sac tumor|testicular yolk sac tumor, macrocystic pattern	http://purl.obolibrary.org/obo/MONDO_0004106	A yolk sac tumor that arises from the testis and is characterized by the presence of collections of thin-walled spaces.	UMLS:C1515307|NCIT:C39924|DOID:7097
MONDO:0006766	gait apraxia	biolink:Disease	mondo	UMLS:C1510417|DOID:4260|MESH:D020235|EFO:1000944|MedDRA:10070635		Gait apraxia (finding)	http://purl.obolibrary.org/obo/MONDO_0006766	Impaired ambulation not attributed to sensory impairment or motor weakness. frontal lobe disorders; basal ganglia diseases (e.g., parkinsonian disorders); dementia, multi-infarct; alzheimer disease; and other conditions may be associated with gait apraxia.	DOID:4260|UMLS:C1510417|MESH:D020235
MONDO:0004105	childhood epithelioid sarcoma	biolink:Disease	mondo	DOID:7095|NCIT:C8095|UMLS:C0279989		epithelioid sarcoma|epithelioid sarcoma of childhood|childhood epithelioid sarcoma|pediatric epithelioid sarcoma|pediatric epithelioid sarcoma	http://purl.obolibrary.org/obo/MONDO_0004105	An epithelioid sarcoma occurring in childhood.	NCIT:C8095|UMLS:C0279989|DOID:7095
MONDO:0004100	lung mixed small cell and squamous cell carcinoma	biolink:Disease	mondo	UMLS:C1334788|DOID:7081|NCIT:C9423		small cell and squamous cell lung carcinoma|small cell and squamous cell carcinoma of lung|mixed small cell and squamous cell carcinoma of lung|small cell and squamous cell carcinoma of the lung|small cell and large cell carcinoma of the lung|combined small cell and squamous cell lung carcinoma|combined small and large cell lung cancer|mixed small cell and squamous cell carcinoma of the lung	http://purl.obolibrary.org/obo/MONDO_0004100	A lung carcinoma characterized by a combination of small cell carcinoma and squamous cell carcinoma.	NCIT:C9423|DOID:7081|UMLS:C1334788
MONDO:0006763	frozen shoulder	biolink:Disease	mondo	ICD10:M75.0|DOID:14188|ICD9:726.0|MedDRA:10017391|UMLS:C0311223|SCTID:399114005|EFO:1000941		adhesive capsulitis of shoulder|adhesions-capsulitis,shoulder	http://purl.obolibrary.org/obo/MONDO_0006763	Inflammation or irritation of a bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin.	DOID:14188|UMLS:C0311223|SNOMEDCT:399114005
MONDO:0006764	fungal meningitis	biolink:Disease	mondo	SCTID:24321005|COHD:432602|ICD9:117.9|DOID:11608|MedDRA:10017538|MESH:D016921|UMLS:C0085438|EFO:1000942|ICD9:321.1		Fungi caused infectious meningitis|Fungi infectious meningitis	http://purl.obolibrary.org/obo/MONDO_0006764	Meningitis caused by fungal agents which may occur as opportunistic infections or arise in immunocompetent hosts.	UMLS:C0085438|SNOMEDCT:24321005|DOID:11608|MESH:D016921
MONDO:0004102	columnar cell variant thyroid gland papillary carcinoma	biolink:Disease	mondo	NCIT:C35830|ICDO:8344/3|UMLS:C1333120|DOID:7088		columnar cell variant thyroid gland papillary carcinoma|columnar cell variant papillary thyroid gland carcinoma|columnar cell variant papillary carcinoma	http://purl.obolibrary.org/obo/MONDO_0004102	A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of pseudostratified malignant follicular cells.	NCIT:C35830|DOID:7088|UMLS:C1333120
MONDO:0006761	fibromuscular dysplasia	biolink:Disease	mondo	NCIT:C84714|MESH:D005352|EFO:1000938|OMIM:135580|UMLS:C1851111|MESH:C537929|MedDRA:10054794		FMDA|fibromuscular dysplasia of arteries|fibromuscular dysplasia; FMDA	http://purl.obolibrary.org/obo/MONDO_0006761	A disorder characterized by fibrous thickening of the arterial wall resulting in narrowing of the arterial lumen. It most often affects the renal artery and less often the carotid artery and abdominal arteries. It can cause hypertension and aneurysm formation.	MESH:C537929|http://identifiers.org/omim/135580|MESH:D005352|UMLS:C1851111|NCIT:C84714
MONDO:0006762	freemartinism	biolink:Disease	mondo	UMLS:C0016697|EFO:1000939|DOID:4671|MESH:D005611			http://purl.obolibrary.org/obo/MONDO_0006762	A condition occurring in the female offspring of dizygotic twins (twin, dizygotic) in a mixed-sex pregnancy, usually in cattle. Freemartinism can occur in other mammals. When placental fusion between the male and the female fetuses permits the exchange of fetal cells and fetal hormones, testicular hormones from the male fetus can androgenize the female fetus producing a sterile xx/xy chimeric 'female'(chimerism).	DOID:4671|MESH:D005611|UMLS:C0016697
MONDO:0004101	multicentric papillary thyroid carcinoma	biolink:Disease	mondo	NCIT:C37304|UMLS:C1334817|DOID:7086		multicentric thyroid gland papillary carcinoma|multicentric papillary thyroid gland carcinoma|multicentric papillary thyroid carcinoma	http://purl.obolibrary.org/obo/MONDO_0004101	A papillary carcinoma arising from the thyroid gland from multiple foci.	UMLS:C1334817|NCIT:C37304|DOID:7086
MONDO:0006760	fetal erythroblastosis	biolink:Disease	mondo	ICD10:P55|DOID:1098|ICD9:773.2|EFO:1000937|MESH:D004899|SCTID:387705004|ICD10:P55.9|NCIT:C101304|UMLS:C0014761|ICD9:773		EF - erythroblastosis foetalis|rhesus isoimmunisation of the newborn|isoimmune hemolytic disease of the newborn|erythroblastosis fetalis|HDFN|haemolytic disease due to rhesus isoimmunisation|hemolytic disease of the newborn|hemolytic disease of the fetus or newborn	http://purl.obolibrary.org/obo/MONDO_0006760	A disorder of the fetus or newborn that occurs when fetal cells that are coated with IgG alloantibodies from the mother attack antigens inherited from the father. Severity can range from absence of symptoms to death.	UMLS:C0014761|SNOMEDCT:387705004|NCIT:C101304|DOID:1098|MESH:D004899
MONDO:0018738	benign metanephric tumour	biolink:Disease	mondo	Orphanet:464359|ICD10:D30.0|UMLS:CN242075	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018738	A benign neoplasm that involves the metanephros.	UMLS:CN242075|ORPHA:464359
UBERON:0003384	skeletal muscle tissue of pharynx	biolink:AnatomicalEntity	mondo			skeletal muscle tissue of pharynx|pharynx skeletal muscle tissue|pharynx skeletal muscle	http://purl.obolibrary.org/obo/UBERON_0003384	A portion of skeletal muscle tissue that is part of a pharynx [Automatically generated definition].	
MONDO:0018737	catastrophic antiphospholipid syndrome	biolink:Disease	mondo	ICD10:D68.6|UMLS:C3662487|UMLS:CN242096|Orphanet:464343|SCTID:609329007|ICD9:289.81|GARD:0009820	ordo_disease	caps|catastrophic APS	http://purl.obolibrary.org/obo/MONDO_0018737		UMLS:CN242096|UMLS:C3662487|ORPHA:464343|SNOMEDCT:609329007
UBERON:0003382	cardiac muscle of left ventricle	biolink:AnatomicalEntity	mondo			cardiac muscle tissue of left ventricle|left ventricle cardiac muscle|left ventricular cardiac muscle tissue	http://purl.obolibrary.org/obo/UBERON_0003382	A portion of cardiac muscle tissue that is part of a left ventricle [Automatically generated definition].	
UBERON:0003383	cardiac muscle tissue of interventricular septum	biolink:AnatomicalEntity	mondo			interventricular septum heart muscle|cardiac muscle of interventricular septum|interventricular septum cardiac muscle|interventricular septum myocardium|cardiac muscle tissue of interventricular septum|interventricular septum muscle	http://purl.obolibrary.org/obo/UBERON_0003383	A portion of cardiac muscle tissue that is part of an interventricular septum [Automatically generated definition].	
MONDO:0018739	neonatal alloimmune neutropenia	biolink:Disease	mondo	SCTID:14333004|Orphanet:464370|UMLS:C0272176|ICD10:P61.5	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018739		UMLS:C0272176|ORPHA:464370|SNOMEDCT:14333004
MONDO:0018734	verrucous hemangioma	biolink:Disease	mondo	ICDO:9142/0|UMLS:C0334540|ICD10:D18.0|Orphanet:464318|DOID:470|UMLS:CN242156|NCIT:C4299	ordo_disease	verrucous keratotic hemangioma (morphologic abnormality)|verrucous keratotic hemangioma	http://purl.obolibrary.org/obo/MONDO_0018734	A skin hemangioma characterized by the presence of epidermal hyperplasia.	UMLS:C0334540|UMLS:CN242156|DOID:470|ORPHA:464318|NCIT:C4299
UBERON:0003380	cardiac muscle of left atrium	biolink:AnatomicalEntity	mondo			textus muscularis of myocardium of left atrium|textus muscularis of myocardium of cardiac left atrium|cardiac muscle of cardiac left atrium|cardiac left atrium cardiac muscle tissue|myocardium of left atrium|left atrium myocardium|cardiac muscle of heart left atrium|textus muscularis of myocardium of heart left atrium|textus muscularis of myocardium of left cardiac atrium|cardiac muscle of left atrium of heart|textus muscularis of myocardium of left atrium of heart|cardiac left atrium cardiac muscle|left atrium heart muscle	http://purl.obolibrary.org/obo/UBERON_0003380	A portion of cardiac muscle tissue that is part of a left atrium [Automatically generated definition].	
MONDO:0018733	intellectual disability syndrome due to a DYRK1A point mutation	biolink:Disease	mondo	Orphanet:464311|UMLS:CN242084	ordo_clinical_subtype	DYRK1A-related intellectual disability syndrome due to a point mutation	http://purl.obolibrary.org/obo/MONDO_0018733		UMLS:CN242084|ORPHA:464311
UBERON:0003381	cardiac muscle of right ventricle	biolink:AnatomicalEntity	mondo			right ventricular cardiac muscle tissue|right ventricle cardiac muscle|cardiac muscle tissue of right ventricle	http://purl.obolibrary.org/obo/UBERON_0003381	A portion of cardiac muscle tissue that is part of a right ventricle [Automatically generated definition].	
MONDO:0018736	kaposiform lymphangiomatosis	biolink:Disease	mondo	ICD10:D18.1|Orphanet:464329	ordo_disease	KLA	http://purl.obolibrary.org/obo/MONDO_0018736	A generalized lymphatic anomaly characterized by kaposiform spindled lymphatic endothelial cells.	ORPHA:464329
MONDO:0018735	multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome	biolink:Disease	mondo	ICD10:D18.1|GARD:0010467|UMLS:CN242151|Orphanet:464321|NCIT:C60672	ordo_disease	cutaneovisceral angiomatosis-thrombocytopenia syndrome|MLT1|MLT|multifocal lymphangioendotheliomatosis with thrombocytopenia|MALT1 wt allele|mucosa associated lymphoid tissue lymphoma translocation Gene 1 wt allele|DKFZp434L132	http://purl.obolibrary.org/obo/MONDO_0018735	Human MALT1 wild-type allele is located in the vicinity of 18q21 and is approximately 79 kb in length. This allele, which encodes mucosa associated lymphoid tissue lymphoma translocation gene 1 protein, plays a role in the modulation of the nuclear factor kappa B complex signaling cascade. The gene is involved in a chromosomal translocation t(11;18)(q21;q21) with the BIRC2 gene in mucosa-associated lymphoid tissue lymphomas.	UMLS:CN242151|ORPHA:464321|NCIT:C60672
MONDO:0018730	rare genetic venous malformation	biolink:Disease	mondo	UMLS:CN241790|Orphanet:459548	obsoletion_candidate|ordo_group_of_disorders	genetic rare venous malformation	http://purl.obolibrary.org/obo/MONDO_0018730	An instance of rare venous malformation that is caused by a modification of the individual's genome.	UMLS:CN241790|ORPHA:459548
MONDO:0018732		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018732		
CHEBI:24913	isoprenoid	biolink:ChemicalSubstance	mondo			isoprenoid|isoprenoids|isoprenoids	http://purl.obolibrary.org/obo/CHEBI_24913	Any lipid formally derived from isoprene (2-methylbuta-1,3-diene), the skeleton of which can generally be discerned in repeated occurrence in the molecule. The skeleton of isoprenoids may differ from strict additivity of isoprene units by loss or shift of a fragment, commonly a methyl group. The class includes both hydrocarbons and oxygenated derivatives.	
MONDO:0018731	lethal multiple congenital anomalies/dysmorphic syndrome	biolink:Disease	mondo	Orphanet:459787	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018731		ORPHA:459787
NCBITaxon:33743	Kyasanur Forest disease virus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_33743		
UBERON:0003388	mesothelium of pericardial cavity	biolink:AnatomicalEntity	mondo			pericardial cavity mesothelium|cavity of pericardial sac mesothelium|pericardial cavity meso-epithelium|cavity of pericardial sac meso-epithelium|meso-epithelium of pericardial cavity|meso-epithelium of cavity of pericardial sac|mesothelium of cavity of pericardial sac	http://purl.obolibrary.org/obo/UBERON_0003388	A mesothelium that is part of a pericardium [Automatically generated definition].	
ECTO:9001640	electron donor exposure	biolink:OntologyClass	mondo			exposure to electron donor	http://purl.obolibrary.org/obo/ECTO_9001640	An exposure to electron donor.	
HGNC:14262	AUTS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14262		
UBERON:0003389	mesothelium of diaphragm	biolink:AnatomicalEntity	mondo			meso-epithelium of diaphragm|thoracic diaphragm mesothelium|thoracic diaphragm meso-epithelium|diaphragm mesothelium|diaphragm meso-epithelium|mesothelium of thoracic diaphragm|meso-epithelium of thoracic diaphragm	http://purl.obolibrary.org/obo/UBERON_0003389	A mesothelium that is part of a diaphragm [Automatically generated definition].	
UBERON:0003386	smooth muscle of eye	biolink:AnatomicalEntity	mondo			ocular smooth muscle	http://purl.obolibrary.org/obo/UBERON_0003386	any of the striated muscles that move the eye and include: superior rectus, inferior rectus, medial rectus, lateral rectus, superior oblique, inferior oblique, retractor bulbi	
HGNC:14263	RAB23	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14263		
UBERON:0003387	smooth muscle of trachea	biolink:AnatomicalEntity	mondo			tracheal smooth muscle|trachea smooth muscle	http://purl.obolibrary.org/obo/UBERON_0003387	A portion of smooth muscle tissue that is part of a trachea [Automatically generated definition].	
MONDO:0004159	pancreatic non-invasive mucinous cystadenocarcinoma	biolink:Disease	mondo	DOID:7237|NCIT:C41245|ICDO:8470/2|UMLS:C1518874			http://purl.obolibrary.org/obo/MONDO_0004159	A non-invasive malignant cystic epithelial neoplasm arising from the exocrine pancreas. It occurs almost exclusively in women. Small tumors are usually found incidentally. Larger tumors usually produce symptoms related to compression of the adjacent structures. It is characterized by the presence of columnar, mucin-producing epithelial cells which often form papillary projections with irregular branching and budding. There is cellular stratification, severe dysplasia, and high mitotic activity present. Complete surgical removal is usually associated with an excellent prognosis.	UMLS:C1518874|NCIT:C41245|DOID:7237
MONDO:0004158	pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma	biolink:Disease	mondo	DOID:7236|NCIT:C41246|ICDO:8470/3|UMLS:C1518870		pancreatic invasive mucinous cystadenocarcinoma|pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma|pancreatic mucinous cystic neoplasm with an associated invasive carcinoma	http://purl.obolibrary.org/obo/MONDO_0004158	A cystic epithelial neoplasm characterized by the presence of columnar mucin-producing epithelial cells, ovarian-type stroma formation, and a focal or extensive invasive carcinomatous component.	UMLS:C1518870|DOID:7236|NCIT:C41246
HGNC:26219	FUZ	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26219		
MONDO:0004155	adult central nervous system embryonal carcinoma	biolink:Disease	mondo	DOID:7233|NCIT:C5790|UMLS:C1370503		adult CNS embryonal carcinoma|adult central nervous system embryonal carcinoma|embryonal carcinoma of the adult central nervous system|embryonal carcinoma of the central nervous system of adults|adult embryonal carcinoma of the central nervous system|Central nervous system embryonal carcinoma|embryonal carcinoma of adult central nervous system|embryonal carcinoma of the adult CNS|embryonal carcinoma of adult CNS	http://purl.obolibrary.org/obo/MONDO_0004155	A embryonal carcinoma of the central nervous system that occurs in an adult.	UMLS:C1370503|NCIT:C5790|DOID:7233
MONDO:0004154	obsolete central nervous system embryonal carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004154		
MONDO:0004157	obsolete pancreatic mucinous cystadenoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004157		
MONDO:0004156	pancreatic mucinous cystadenocarcinoma	biolink:Disease	mondo	DOID:7234|NCIT:C5713|UMLS:C1335308		colloidal Cystadencarcinoma of the pancreas|pancreatic colloid cystadenocarcinoma|mucinous Cystadencarcinoma of pancreas|pancreatic colloid Cystadencarcinoma|colloid Cystadencarcinoma of pancreas|colloid Cystadencarcinoma of the pancreas|pancreatic mucinous cystadenocarcinoma|mucinous Cystadencarcinoma of the pancreas|pancreatic colloidal Cystadencarcinoma|colloidal Cystadencarcinoma of pancreas	http://purl.obolibrary.org/obo/MONDO_0004156	A mucinous cystadenocarcinoma that involves the pancreas.	NCIT:C5713|UMLS:C1335308|DOID:7234
MONDO:0004151	spinal meninges cancer	biolink:Disease	mondo	ICD9:192.3|SCTID:363476006|ICD10:C70.1|UMLS:C0153647|DOID:7224		meninx of spinal cord cancer|malignant meninx of spinal cord neoplasm|malignant neoplasm of meninx of spinal cord|malignant neoplasm of spinal meninges|cancer of meninx of spinal cord	http://purl.obolibrary.org/obo/MONDO_0004151	A malignant neoplasm involving the meninx of spinal cord.	DOID:7224|UMLS:C0153647|SNOMEDCT:363476006
MONDO:0004150	breast giant fibroadenoma	biolink:Disease	mondo	DOID:7223|SCTID:254846003|NCIT:C4273|ICDO:9016/0|UMLS:C0346157|UMLS:C0334500		giant fibroadenoma of the breast|breast giant fibroadenoma|giant breast fibroadenoma|giant fibroadenoma|giant fibroadenoma of breast	http://purl.obolibrary.org/obo/MONDO_0004150	A breast fibroadenoma characterized by a very large size. This term has also been used as a synonym for juvenile fibroadenoma by some authors. The latter is characterized by epithelial hyperplasia and an increased stromal cellularity.	NCIT:C4273|UMLS:C0346157|DOID:7223|UMLS:C0334500|SNOMEDCT:254846003
MONDO:0004153	childhood central nervous system embryonal carcinoma	biolink:Disease	mondo	UMLS:C1377605|DOID:7231|NCIT:C6208		childhood CNS embryonal cell carcinoma|embryonal carcinoma of the pediatric CNS|pediatric central nervous system embryonal carcinoma|embryonal carcinoma of childhood central nervous system|pediatric embryonal carcinoma of the central nervous system|pediatric embryonal carcinoma of the central nervous system|embryonal carcinoma of the childhood central nervous system|embryonal carcinoma of the childhood CNS|embryonal carcinoma of the central nervous system of childhood|childhood embryonal carcinoma of the central nervous system|embryonal carcinoma of childhood CNS|embryonal carcinoma of pediatric central nervous system|embryonal carcinoma of the pediatric central nervous system|childhood central nervous system embryonal carcinoma|embryonal carcinoma of pediatric CNS|pediatric CNS embryonal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004153	An embryonal carcinoma that arises from the central nervous system and occurs during childhood.	UMLS:C1377605|DOID:7231|NCIT:C6208
MONDO:0004152	chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation	biolink:Disease	mondo	UMLS:C1333037|DOID:7230|NCIT:C37201		CLL/SLL with IGVH SHM|chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation|postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma	http://purl.obolibrary.org/obo/MONDO_0004152	A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) expressing somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes. The recognition of this variant alters the belief that CLL/SLL is always derived from a naive, pregerminal center B-cell. The presence of somatic hypermutations of IGH genes occurs in approximately 50% of CLL/SLL cases and implies a postgerminal center, memory origin. Patients with this variant of CLL/SLL have a favorable prognosis, with a reported median survival of more than 24 years.	NCIT:C37201|DOID:7230|UMLS:C1333037
MONDO:0016148	qualitative or quantitative defects of collagen 6	biolink:Disease	mondo	Orphanet:207090	ordo_group_of_disorders	qualitative or quantitative defects of collagen type 6	http://purl.obolibrary.org/obo/MONDO_0016148		ORPHA:207090
MONDO:0016149	qualitative or quantitative defects of merosin	biolink:Disease	mondo	Orphanet:207094	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016149		ORPHA:207094
MONDO:0016144	qualitative or quantitative defects of delta-sarcoglycan	biolink:Disease	mondo	GARD:0001799|UMLS:CN072428|Orphanet:207070	gard_rare|ordo_group_of_disorders	delta-sarcoglycanopathy	http://purl.obolibrary.org/obo/MONDO_0016144		ORPHA:207070|UMLS:CN072428
MONDO:0016145	qualitative or quantitative defects of dysferlin	biolink:Disease	mondo	UMLS:C2931687|MESH:C537995|GARD:0002003|GARD:0002031|Orphanet:207073	gard_rare|ordo_group_of_disorders	dysferlinopathy	http://purl.obolibrary.org/obo/MONDO_0016145		UMLS:C2931687|MESH:C537995|ORPHA:207073
NCBITaxon:128827	Erysipelotrichaceae	organism taxon	mondo	PMID:14742484|PMID:27270136|GC_ID:11		Erysipelothrixaceae|Erysipelothrix group	http://purl.obolibrary.org/obo/NCBITaxon_128827		
MONDO:0016146	caveolinopathy	biolink:Disease	mondo	Orphanet:207078|UMLS:CN043575	ordo_group_of_disorders	qualitative or quantitative defects of caveolin-3	http://purl.obolibrary.org/obo/MONDO_0016146	A group of muscle diseases with basis in CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo. It is the only gene in which pathogenic variants are known to cause caveolinopathies. Sequence analysis identifies pathogenic variants in more than 99% of affected individuals	ORPHA:207078|UMLS:CN043575
HGNC:14234	NSD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14234		
MONDO:0016147	qualitative or quantitative defects of dystrophin	biolink:Disease	mondo	UMLS:CN043595|Orphanet:207085	ordo_group_of_disorders	dystrophinopathy	http://purl.obolibrary.org/obo/MONDO_0016147		ORPHA:207085|UMLS:CN043595
MONDO:0016140	sarcoglycanopathy	biolink:Disease	mondo	Orphanet:207052|MESH:D058088	ordo_group_of_disorders	qualitative or quantitative defects of sarcoglycan	http://purl.obolibrary.org/obo/MONDO_0016140	Deficiencies or mutations in the genes for the sarcoglycan complex subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency.	MESH:D058088|ORPHA:207052
MONDO:0016141	qualitative or quantitative defects of alpha-sarcoglycan	biolink:Disease	mondo	Orphanet:207060	ordo_group_of_disorders	alpha-sarcoglycanopathy	http://purl.obolibrary.org/obo/MONDO_0016141		ORPHA:207060
MONDO:0016142	qualitative or quantitative defects of beta-sarcoglycan	biolink:Disease	mondo	UMLS:C2930900|HGNC:10806|Orphanet:207063|MESH:C535435|GARD:0000870	gard_rare|ordo_group_of_disorders	beta-sarcoglycanopathy	http://purl.obolibrary.org/obo/MONDO_0016142		UMLS:C2930900|ORPHA:207063|MESH:C535435
MONDO:0016143	qualitative or quantitative defects of gamma-sarcoglycan	biolink:Disease	mondo	Orphanet:207067	ordo_group_of_disorders	gamma-sarcoglycanopathy	http://purl.obolibrary.org/obo/MONDO_0016143		ORPHA:207067
HGNC:16892	CD96	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16892		
MONDO:0018790	COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy	biolink:Disease	mondo	UMLS:CN776855|Orphanet:477765	ordo_group_of_disorders	COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendancy	http://purl.obolibrary.org/obo/MONDO_0018790		UMLS:CN776855|ORPHA:477765
MONDO:0004169	premenstrual tension	biolink:Disease	mondo	UMLS:C0376356|ICD9:625.4|ICD10:N94.3|MESH:D011293|DOID:727			http://purl.obolibrary.org/obo/MONDO_0004169	A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of pms are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses.	UMLS:C0376356|DOID:727|MESH:D011293
MONDO:0004166	hereditary fallopian tube carcinoma	biolink:Disease	mondo	DOID:7266|NCIT:C40455|UMLS:C1512418		familiar fallopian tube carcinoma|hereditary fallopian tube cancer|hereditary fallopian tube carcinoma|familial fallopian tube carcinoma	http://purl.obolibrary.org/obo/MONDO_0004166	Fallopian tube carcinoma that has developed in relatives of patients that have a history of fallopian tube carcinoma.	DOID:7266|NCIT:C40455|UMLS:C1512418
MONDO:0004165	selective IgD deficiency disease	biolink:Disease	mondo	UMLS:C0398695|NCIT:C27144|DOID:7263|ICD9:279.03|SCTID:234541006		selective IgD immunodeficiency|selective immunoglobulin D deficiency	http://purl.obolibrary.org/obo/MONDO_0004165	A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class D (IgD). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient production of IgD from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons are asymptomatic and do not appear to be at increased risk for infection.	DOID:7263|SNOMEDCT:234541006|UMLS:C0398695|NCIT:C27144
MONDO:0004168	cribriform variant testicular seminoma	biolink:Disease	mondo	DOID:7269|UMLS:C1515292|NCIT:C40957		testicular seminoma, cribriform variant	http://purl.obolibrary.org/obo/MONDO_0004168	A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in cribriform patterns and few lymphocytes.	UMLS:C1515292|DOID:7269|NCIT:C40957
MONDO:0004167	obsolete lung clear cell carcinoma	biolink:Disease	mondo	SCTID:254630009|UMLS:C0345959|DOID:7267			http://purl.obolibrary.org/obo/MONDO_0004167		DOID:7267|SNOMEDCT:254630009|UMLS:C0345959
HGNC:28887	LEMD3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28887		
MONDO:0004162	uterine corpus cellular leiomyoma	biolink:Disease	mondo	DOID:7242|UMLS:C1519845|NCIT:C40163		uterine corpus cellular leiomyoma|body of uterus cellular leiomyoma|cellular leiomyoma of body of uterus	http://purl.obolibrary.org/obo/MONDO_0004162	A morphologic variant of leiomyoma arising from the uterine corpus. It is characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern.	DOID:7242|NCIT:C40163|UMLS:C1519845
HGNC:28880	MAGT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28880		
MONDO:0004161	uterine corpus apoplectic leiomyoma	biolink:Disease	mondo	DOID:7241|NCIT:C40165|UMLS:C1519852		uterine corpus leiomyoma with apoplectic change|uterine corpus hemorrhagic cellular leiomyoma	http://purl.obolibrary.org/obo/MONDO_0004161	A morphologic variant of uterine corpus leiomyoma characterized by zones of hemorrhagic infarction surrounded by hypercellular areas. It usually develops in women of childbearing years, particularly those that are pregnant, post-partum, or taking oral contraceptives.	DOID:7241|NCIT:C40165|UMLS:C1519852
MONDO:0004164	lymphoepithelioma-like acinar prostate adenocarcinoma	biolink:Disease	mondo	NCIT:C39885|UMLS:C1515864|DOID:7246		lymphoepithelioma-like variant acinar prostate adenocarcinoma|acinar prostate adenocarcinoma, lymphoepithelioma-like variant	http://purl.obolibrary.org/obo/MONDO_0004164	A variant of prostate carcinoma characterized by the presence of malignant cells forming syncytial patterns and dense lymphocytic infiltrates.	NCIT:C39885|DOID:7246|UMLS:C1515864
MONDO:0004163	bladder urachal urothelial carcinoma	biolink:Disease	mondo	DOID:7244|UMLS:C1511207|NCIT:C39844		bladder urachal urothelial carcinoma	http://purl.obolibrary.org/obo/MONDO_0004163	A transitional cell carcinoma of the urinary bladder that arises from the urachal epithelium.	NCIT:C39844|DOID:7244|UMLS:C1511207
HGNC:28883	PPA2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28883		
HGNC:26222	FAR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26222		
MONDO:0004160	female stress incontinence	biolink:Disease	mondo	COHD:195007|ICD9:625.6|UMLS:C0038437|NCIT:C35042|DOID:724		female urinary stress incontinence|stress incontinence - female	http://purl.obolibrary.org/obo/MONDO_0004160	The involuntary loss of urine in females secondary to insufficient strength of the pelvic floor muscles; this can result from physical changes following pregnancy and childbirth, or as a response to a decrease in estrogen during menopause.	NCIT:C35042|UMLS:C0038437|DOID:724
ECTO:9001627	inorganic acid exposure	biolink:OntologyClass	mondo			exposure to inorganic acid	http://purl.obolibrary.org/obo/ECTO_9001627	An exposure to inorganic acid.	
MONDO:0016137	acute and subacute inflammatory demyelinating polyneuropathy	biolink:Disease	mondo	Orphanet:207038	ordo_group_of_disorders	acute and subacute inflammatory demyelinating polyradiculoneuropathy	http://purl.obolibrary.org/obo/MONDO_0016137		ORPHA:207038
MONDO:0018799	obsolete rare hypercholesterolemia	biolink:Disease	mondo	UMLS:CN776861|Orphanet:477811	obsoletion_candidate|ordo_group_of_disorders	rare hypercholesterolemia	http://purl.obolibrary.org/obo/MONDO_0018799	Rare hypercholesterolemia.	ORPHA:477811|UMLS:CN776861
MONDO:0016138	obsolete malignant lymphoma with peripheral neuropathy	biolink:Disease	mondo	Orphanet:207046	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016138		ORPHA:207046
UBERON:1000004	collection of hair on external ear	biolink:AnatomicalEntity	mondo			external ear hair	http://purl.obolibrary.org/obo/UBERON_1000004	A collection of hairs that grows on the external ear.	
MONDO:0016139	qualitative or quantitative protein defects in neuromuscular diseases	biolink:Disease	mondo	Orphanet:207049|UMLS:CN200901	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016139		ORPHA:207049|UMLS:CN200901
ECTO:9001628	gas molecular entity exposure	biolink:OntologyClass	mondo			exposure to gas molecular entity	http://purl.obolibrary.org/obo/ECTO_9001628	An exposure to gas molecular entity.	
MONDO:0016133	rare hereditary metabolic disease with peripheral neuropathy	biolink:Disease	mondo	Orphanet:207018|UMLS:CN200897	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016133		ORPHA:207018|UMLS:CN200897
MONDO:0018796	isolated constitutional thrombocytopenia	biolink:Disease	mondo	Orphanet:477797	ordo_group_of_disorders	Cconstitutional thrombocytopenia without extra-hematopoietic manifestation|non-syndromic constitutional thrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0018796		ORPHA:477797
MONDO:0016134	rare hereditary systemic disease with peripheral neuropathy	biolink:Disease	mondo	UMLS:CN200898|Orphanet:207021	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0016134		ORPHA:207021|UMLS:CN200898
MONDO:0018795	syndromic constitutional thrombocytopenia	biolink:Disease	mondo	Orphanet:477794|UMLS:CN776900	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018795		UMLS:CN776900|ORPHA:477794
HGNC:14244	RAB18	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14244		
MONDO:0018798	other genetic dermis disorder	biolink:Disease	mondo	Orphanet:477808|UMLS:CN776936	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0018798		ORPHA:477808|UMLS:CN776936
NCBITaxon:1884633	Cryptococcaceae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1884633		
MONDO:0016135	rare hereditary neurologic disease with peripheral neuropathy	biolink:Disease	mondo	Orphanet:207025|UMLS:CN200899	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0016135		ORPHA:207025|UMLS:CN200899
MONDO:0018797	obsolete genetic cardiac malformation	biolink:Disease	mondo	Orphanet:477805	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018797		ORPHA:477805
MONDO:0016136	cerebellar ataxia with peripheral neuropathy	biolink:Disease	mondo	Orphanet:207028|ICD10:G60.2	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016136		ORPHA:207028
MONDO:0018792	obsolete Moyamoya syndrome	biolink:Disease	mondo	UMLS:CN776904|Orphanet:477771	ordo_group_of_disorders	rare disorder with a Moyamoya angiopathy	http://purl.obolibrary.org/obo/MONDO_0018792		UMLS:CN776904|ORPHA:477771
MONDO:0016130	fungal myositis	biolink:Disease	mondo	Orphanet:207000|SCTID:240111007|ICD10:M60.0|UMLS:C0410251	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016130		SNOMEDCT:240111007|UMLS:C0410251|ORPHA:207000
MONDO:0018791	Moyomoya angiopathy	biolink:Disease	mondo	Orphanet:477768	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018791		ORPHA:477768
MONDO:0016131	obsolete spinal muscular atrophy associated with central nervous system anomaly	biolink:Disease	mondo	Orphanet:207012	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016131		ORPHA:207012
MONDO:0018794	cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder	biolink:Disease	mondo	Orphanet:477787|OMIM:618372|UMLS:CN776897	ordo_disease	platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency|Phospholipase A2, Group Iva, Deficiency of|PLA2G4A-related platelet dysfunction|GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP	http://purl.obolibrary.org/obo/MONDO_0018794		UMLS:CN776897|http://identifiers.org/omim/618372|ORPHA:477787
NCBITaxon:1884637	Cryptococcus gattii species complex	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1884637		
MONDO:0018793	primary condylar hyperplasia	biolink:Disease	mondo	Orphanet:477781	ordo_disease	type 1 condylar hyperplasia	http://purl.obolibrary.org/obo/MONDO_0018793		ORPHA:477781
MONDO:0016132	rare hereditary disease with peripheral neuropathy	biolink:Disease	mondo	Orphanet:207015	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0016132		ORPHA:207015
MONDO:0004137		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004137		
MONDO:0004136	ovarian endometrioid cystadenoma	biolink:Disease	mondo	DOID:7191|UMLS:C1518713|NCIT:C40075		ovarian endometrioid cystadenoma	http://purl.obolibrary.org/obo/MONDO_0004136	A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells.	UMLS:C1518713|DOID:7191|NCIT:C40075
MONDO:0006798	hypervitaminosis A	biolink:Disease	mondo	ICD9:278.2|COHD:436941|EFO:1000978|UMLS:C0020579|MESH:D006986|ICD10:E67.0|DOID:9972|MedDRA:10020916|SCTID:64559002		hypervitaminosis type A	http://purl.obolibrary.org/obo/MONDO_0006798	A symptom complex resulting from ingesting excessive amounts of vitamin A.	SNOMEDCT:64559002|MESH:D006986|UMLS:C0020579|DOID:9972
CHEBI:73913	antifolate	biolink:ChemicalSubstance	mondo			antifolates|folic acid antagonist|folic acid antagonists	http://purl.obolibrary.org/obo/CHEBI_73913	An antimetabolite that impairs the action of folic acids	
MONDO:0004139	normocytic anemia	biolink:Disease	mondo	UMLS:C0085577|DOID:720|ICD9:285.8|NCIT:C35142|SCTID:300980002		anemia normocytic|normocytic Anemia	http://purl.obolibrary.org/obo/MONDO_0004139	Anemia in which the red blood cell volume is normal.	DOID:720|SNOMEDCT:300980002|NCIT:C35142|UMLS:C0085577
MONDO:0006799	hypothalamic neoplasm	biolink:Disease	mondo	MESH:D007029|UMLS:C0020659|EFO:1000979|NCIT:C3129|SCTID:254968009|DOID:3644		hypothalamus neoplasm|tumor of hypothalamus|neoplasm of the hypothalamus|hypothalamus tumor|hypothalamic tumor|neoplasm of hypothalamus|hypothalamic neoplasms|tumor of the hypothalamus	http://purl.obolibrary.org/obo/MONDO_0006799	A primary or metastatic neoplasm that affects the hypothalamus.	MESH:D007029|DOID:3644|NCIT:C3129|UMLS:C0020659|SNOMEDCT:254968009
MONDO:0004138	obsolete maxillary sinus adenoid cystic carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004138		
MONDO:0006796	hypertensive encephalopathy	biolink:Disease	mondo	UMLS:C0151620|ICD9:437.2|DOID:9427|SCTID:50490005|ICD10:I67.4|NCIT:C3503|EFO:1000976|COHD:312938|MESH:D020343|MedDRA:10020803			http://purl.obolibrary.org/obo/MONDO_0006796	Encephalopathy resulting from hypertension.	DOID:9427|MESH:D020343|NCIT:C3503|SNOMEDCT:50490005|UMLS:C0151620
MONDO:0004133	pituitary gland mixed eosinophil-basophil adenoma	biolink:Disease	mondo	UMLS:C0334312|DOID:7179|NCIT:C4148|ICDO:8281/0		mixed acidophil-basophil adenoma|mixed acidophil-basophil adenoma (morphologic abnormality)|mixed eosinophil-basophil adenoma|pituitary gland mixed acidophil-basophil adenoma	http://purl.obolibrary.org/obo/MONDO_0004133	An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic and basic dyes.	NCIT:C4148|UMLS:C0334312|DOID:7179
MONDO:0004132	anal canal squamous cell carcinoma	biolink:Disease	mondo	UMLS:C1332262|Orphanet:424019|NCIT:C7469|ICD10:C21.1|DOID:7177	ordo_disease	anal canal squamous cell carcinoma|squamous cell carcinoma of the anal canal	http://purl.obolibrary.org/obo/MONDO_0004132	A squamous cell carcinoma arising from the mucosa of the anal canal.	NCIT:C7469|DOID:7177|ORPHA:424019|UMLS:C1332262
MONDO:0006797	hypertensive retinopathy	biolink:Disease	mondo	SCTID:6962006|MESH:D058437|ICD10:H35.03|ICD9:362.11|EFO:1000977|MedDRA:10020839|DOID:11561|COHD:376965|NCIT:C3514|UMLS:C0152132			http://purl.obolibrary.org/obo/MONDO_0006797	Retinopathy due to hypertension.	DOID:11561|SNOMEDCT:6962006|MESH:D058437|UMLS:C0152132|NCIT:C3514
HGNC:28852	SYCE1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28852		
MONDO:0006794	hypersensitivity vasculitis	biolink:Disease	mondo	ICD10:D69.0|NCIT:C82863|ICD9:446.20|SCTID:60555002|ICD9:446.2|ICD9:446.29|EFO:1000974|ICD10:M31.0|DOID:9809|MedDRA:10020764		leukocytoclastic vasculitis	http://purl.obolibrary.org/obo/MONDO_0006794	A small vessel vasculitis affecting the skin and/or internal organs. It is characterized by the presence of neutrophils and fibrinoid necrosis in small arteries and venules. It may be idiopathic or the result of drug treatment, infections, food intake, collagen vascular disorders, inflammatory bowel disease, or cancer.	SNOMEDCT:60555002|DOID:9809|NCIT:C82863
MONDO:0004135	subacute lymphocytic thyroiditis	biolink:Disease	mondo	UMLS:C1306804|NCIT:C35829|SCTID:361126006|DOID:7187|UMLS:C0271814		Subacute lymphocytic thyroiditis|Subacute painless thyroiditis|silent thyroiditis	http://purl.obolibrary.org/obo/MONDO_0004135	Thyroiditis associated with painless enlargement of the thyroid gland. It occurs more frequently in females and is characterized by alterations between hyperthyroidism and hypothyroidism and the eventual return to normal thyroid gland function.	SNOMEDCT:361126006|DOID:7187|UMLS:C1306804|UMLS:C0271814|NCIT:C35829
MONDO:0006795	hypersplenism (disease)	biolink:Disease	mondo	SCTID:58381000|ICD10:D73.1|HP:0001971|NCIT:C34714|UMLS:C0020532|EFO:1000975|DOID:6376|ICD9:289.4|MedDRA:10020769|COHD:192298|MESH:D006971		hypersplenia|hypersplenism	http://purl.obolibrary.org/obo/MONDO_0006795	Overactive functioning of the spleen, resulting in excessive destruction of blood cells.	MESH:D006971|SNOMEDCT:58381000|UMLS:C0020532|DOID:6376|NCIT:C34714
MONDO:0004134	benign dermal neurilemmoma	biolink:Disease	mondo	UMLS:C1332490|NCIT:C5569|DOID:7181		benign skin schwannoma|benign neurilemmoma of skin|benign neurilemmoma of the skin|benign schwannoma of skin|benign schwannoma of the skin|benign dermal schwannoma|benign skin neurilemmoma	http://purl.obolibrary.org/obo/MONDO_0004134		NCIT:C5569|DOID:7181|UMLS:C1332490
MONDO:0006792	hyperglobulinemic purpura	biolink:Disease	mondo	MESH:D011694|DOID:3325|UMLS:C0034151|EFO:1000972|SCTID:402852007			http://purl.obolibrary.org/obo/MONDO_0006792	Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually gamma-globulins. This syndrome often occurs on the legs of women aged 20 to 40 years.	MESH:D011694|UMLS:C0034151|SNOMEDCT:402852007|DOID:3325
MONDO:0006793	hyperpituitarism	biolink:Disease	mondo	MESH:D006964|DOID:2444|MedDRA:10020716|COHD:26378|UMLS:C0020506|EFO:1000973|ICD9:253.1|SCTID:10649000	clingen		http://purl.obolibrary.org/obo/MONDO_0006793	Disease of the glandular, anterior portion of the pituitary (pituitary gland, anterior) resulting in hypersecretion of adenohypophyseal hormones such as growth hormone; prolactin; thyrotropin; luteinizing hormone; follicle stimulating hormone ; and adrenocorticotropic hormone. Hyperpituitarism usually is caused by a functional adenoma.	DOID:2444|MESH:D006964|UMLS:C0020506|SNOMEDCT:10649000
MONDO:0004131	anal verrucous carcinoma	biolink:Disease	mondo	DOID:7175|NCIT:C7470|UMLS:C1332278		anal verrucous carcinoma|anal giant (malignant) condyloma|anal Buschke-Lowenstein tumor	http://purl.obolibrary.org/obo/MONDO_0004131	A large, well differentiated squamous cell carcinoma with a cauliflower-like appearance, characterized by the presence of an exophytic and endophytic growth pattern. Morphologically, there is papillomatosis and acanthosis present, however cytologically the neoplastic squamous cells have a benign appearance. Dysplastic changes are minimal. It does not respond to conservative treatment and it is regarded by many authors as an intermediate lesion between condyloma acuminatum and squamous cell carcinoma.	NCIT:C7470|DOID:7175|UMLS:C1332278
MONDO:0006790	hypercementosis	biolink:Disease	mondo	ICD10:K03.4|UMLS:C0020441|GARD:0006692|ICD9:521.5|MESH:D006936|DOID:12733|MedDRA:10020596|SCTID:78537008|EFO:1000970|COHD:442576	gard_rare	cementation hyperplasia	http://purl.obolibrary.org/obo/MONDO_0006790	A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed)	MESH:D006936|DOID:12733|SNOMEDCT:78537008|UMLS:C0020441
MONDO:0004130	anus basaloid carcinoma	biolink:Disease	mondo	UMLS:C0280470|NCIT:C8256|DOID:7174		basaloid carcinoma of anus|anus basaloid squamous cell carcinoma|anal basaloid carcinoma|basaloid carcinoma of the anus	http://purl.obolibrary.org/obo/MONDO_0004130	An anal squamous cell carcinoma characterized by the presence of malignant cells with hyperchromatic nuclei and peripheral nuclear palisading.	UMLS:C0280470|DOID:7174|NCIT:C8256
MONDO:0006791	hyperemesis gravidarum (disease)	biolink:Disease	mondo	HP:0012188|MedDRA:10020614|SCTID:14094001|EFO:1000971|MESH:D006939		hyperemesis gravidarum|pregnancy pernicious vomiting|pernicious vomiting of pregnancy	http://purl.obolibrary.org/obo/MONDO_0006791	Severe, intractable vomiting during pregnancy (usually the first trimester) accompanied by dehydration, weight loss, and electrolyte imbalances.	MESH:D006939|SNOMEDCT:14094001|NCIT:C87084
MONDO:0016126	viral myositis	biolink:Disease	mondo	UMLS:C0150005|ICD10:M60.0|SCTID:240105009|MedDRA:10051512|Orphanet:206991|ICD9:729.1	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016126		MEDDRA:10051512|ORPHA:206991|SNOMEDCT:240105009|UMLS:C0150005
MONDO:0018789	COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy	biolink:Disease	mondo	Orphanet:477762|UMLS:CN776856	ordo_group_of_disorders	COL4A1 or COL4A2-related cerebral angiopathy with ischemic tendancy	http://purl.obolibrary.org/obo/MONDO_0018789		ORPHA:477762|UMLS:CN776856
HGNC:16877	MFN2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16877		
HGNC:16876	ARNT2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16876		
MONDO:0018788	COL4A1 or COL4A2-related cerebral small vessel disease	biolink:Disease	mondo	Orphanet:477759|UMLS:CN776854	ordo_group_of_disorders	COL4A1 or COL4A2-related cerebral angiopathy	http://purl.obolibrary.org/obo/MONDO_0018788		ORPHA:477759|UMLS:CN776854
MONDO:0016127	bacterial myositis	biolink:Disease	mondo	ICD10:M60.0|Orphanet:206994|SCTID:30330001	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016127		ORPHA:206994|SNOMEDCT:30330001
MONDO:0016128	parasitic myositis	biolink:Disease	mondo	ICD9:728.2|UMLS:C0263997|Orphanet:206997|ICD10:M60.0|SCTID:60970005	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016128		SNOMEDCT:60970005|UMLS:C0263997|ORPHA:206997
NCBITaxon:1639119	Plasmodiidae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1639119		
MONDO:0016129	eosinophilic gastroenteritis	biolink:Disease	mondo	SCTID:359804008|NCIT:C35330|ICD10:K52.8|DOID:4031|MedDRA:10017902|UMLS:C1262481|ICD9:558.41|Orphanet:2070|COHD:443406|GARD:0009142	ordo_disease	eosinophilic gastroenteritis|eosinophilic enteritis|EGE|eosinophilic gastroenterocolitis	http://purl.obolibrary.org/obo/MONDO_0016129	Eosinophilic gastroenteritis (EGE) is a rare benign gastrointestinal disease characterized by the presence of abnormal and nonspecific gastro-intestinal (GI) manifestations, associated with an eosinophilic infiltration of the GI tract, which can affect several segments and involve several layers within the GI wall.	DOID:4031|SNOMEDCT:359804008|MEDDRA:10017902|MESH:C535952|UMLS:C1262481|ORPHA:2070|NCIT:C35330
MONDO:0016122	periodic paralysis (disease)	biolink:Disease	mondo	HP:0003768|Orphanet:206976|UMLS:C1279412|MedDRA:10016208|ICD10:G72.3|UMLS:CN231077	ordo_group_of_disorders	periodic paralysis	http://purl.obolibrary.org/obo/MONDO_0016122		MEDDRA:10016208|MESH:D010245|ORPHA:206976|UMLS:CN231077|UMLS:C1279412|UMLS:C0030443
MONDO:0018785	obsolete nodular fasciitis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018785	A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity.	
HGNC:16873	FIG4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16873		
MONDO:0018784	pediatric multiple sclerosis	biolink:Disease	mondo	Orphanet:477738|UMLS:CN037005|GARD:0010443	gard_rare|ordo_disease	MS pediatric|multiple sclerosis, pediatric|pediatric MS	http://purl.obolibrary.org/obo/MONDO_0018784	Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on intial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported.	ORPHA:477738|UMLS:CN037005
MONDO:0016123	muscular tumor	biolink:Disease	mondo	Orphanet:206982	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016123		ORPHA:206982
HGNC:14211	BLNK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14211		
MONDO:0018787	genetic cerebral small vessel disease	biolink:Disease	mondo	Orphanet:477754|UMLS:CN776941	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018787		ORPHA:477754|UMLS:CN776941
MONDO:0016124	obsolete drug and/or toxic myopathy	biolink:Disease	mondo	Orphanet:206985			http://purl.obolibrary.org/obo/MONDO_0016124		ORPHA:206985
MONDO:0018786	pontine autosomal dominant microangiopathy with leukoencephalopathy	biolink:Disease	mondo	Orphanet:477749	ordo_disease	PADMAL	http://purl.obolibrary.org/obo/MONDO_0018786		ORPHA:477749
MONDO:0016125	infectious, fungal or parasitic myopathy	biolink:Disease	mondo	Orphanet:206988|ICD10:M60.0	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016125		ORPHA:206988
MONDO:0018781	KID syndrome	biolink:Disease	mondo	OMIMPS:148210|Orphanet:477|ICD9:759.89|ICD10:Q80.8|UMLS:C0265336|MedDRA:10048786|GARD:0003113|SCTID:2625009|UMLS:CN205136	ordo_disease|ordo_inheritance_inconsistent	KID/HID syndrome|ichthyosis hystrix Rheydt type|keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome|keratitis, ichthyosis, and deafness (KID) syndrome|Senter syndrome	http://purl.obolibrary.org/obo/MONDO_0018781	Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.	UMLS:CN205136|SNOMEDCT:2625009|MEDDRA:10048786|UMLS:C0265336|ORPHA:477
MONDO:0018780	congenital generalized hypercontractile muscle stiffness syndrome	biolink:Disease	mondo	Orphanet:476406	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018780		ORPHA:476406
MONDO:0016120	myotonic syndrome	biolink:Disease	mondo	ICD10:G71.1|Orphanet:206970|MedDRA:10028658|MESH:D020967	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016120		UMLS:C0553604|MEDDRA:10028658|ORPHA:206970|MESH:D020967
MONDO:0018783	fibroblastic rheumatism	biolink:Disease	mondo	Orphanet:477650|UMLS:C1302753|ICD9:729.0|SCTID:399964004	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018783		SNOMEDCT:399964004|UMLS:C1302753|ORPHA:477650
MONDO:0016121	congenital myotonia	biolink:Disease	mondo	Orphanet:206973|ICD10:G71.1	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016121		ORPHA:206973
MONDO:0018782	type 1 interferonopathy	biolink:Disease	mondo	Orphanet:477647	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018782		ORPHA:477647
MONDO:0004148	gallbladder papillary neoplasm with an associated invasive carcinoma	biolink:Disease	mondo	DOID:7221|UMLS:C1333753|NCIT:C5743|ICDO:8503/3		gall bladder papillary carcinoma|papillary carcinoma of gallbladder|gallbladder papillary neoplasm with an associated invasive carcinoma|intracystic papillary neoplasm with an associated invasive carcinoma|gallbladder papillary carcinoma|papillary carcinoma of the gallbladder|gallbladder papillary neoplasm with an associated invasive cancer	http://purl.obolibrary.org/obo/MONDO_0004148	An intraluminal papillary neoplasm, usually with high grade intraepithelial neoplasia, that arises from the gallbladder. It is associated with the presence of an invasive carcinoma. The carcinomatous component is usually an adenocarcinoma.	NCIT:C5743|DOID:7221|UMLS:C1333753
MONDO:0004147	noninvasive malignant thymoma	biolink:Disease	mondo	DOID:7214|NCIT:C9080|UMLS:C0278847		malignant thymoma, noninvasive|thymoma malignant noninvasive	http://purl.obolibrary.org/obo/MONDO_0004147	A morphologically malignant thymoma that is entirely confined within the capsule.	UMLS:C0278847|DOID:7214|NCIT:C9080
HGNC:28867	IGF2BP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28867		
MONDO:0004149	gallbladder pleomorphic giant cell adenocarcinoma	biolink:Disease	mondo	DOID:7222		pleomorphic giant cell adenocarcinoma of the gallbladder	http://purl.obolibrary.org/obo/MONDO_0004149		DOID:7222
MONDO:0004144	fibrous meningioma	biolink:Disease	mondo	ICDO:9532/0|UMLS:C0334606|NCIT:C4330|DOID:7211|EFO:1000258		fibroblastic meningioma|fibrous meningioma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0004144	A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix.	NCIT:C4330|DOID:7211|UMLS:C0334606
HGNC:28862	NIPBL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28862		
MONDO:0004143	psammomatous meningioma	biolink:Disease	mondo	UMLS:C0334607|NCIT:C4331|DOID:7210|EFO:1000500|ICDO:9533/0		psammomatous meningioma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0004143	A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells.	NCIT:C4331|DOID:7210|UMLS:C0334607
MONDO:0004146	transitional meningioma	biolink:Disease	mondo	DOID:7213|NCIT:C4333|EFO:1000602|UMLS:C0334611|ICDO:9537/0		transitional meningioma (morphologic abnormality)|mixed meningioma|transitional (mixed) meningioma	http://purl.obolibrary.org/obo/MONDO_0004146	A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns.	NCIT:C4333|DOID:7213|UMLS:C0334611
MONDO:0004145	meningothelial meningioma	biolink:Disease	mondo	EFO:1000372|DOID:7212|ICDO:9531/0|NCIT:C4329|UMLS:C0334605		meningothelial meningioma (morphologic abnormality)|Meningotheliomatous meningioma	http://purl.obolibrary.org/obo/MONDO_0004145	A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present.	NCIT:C4329|UMLS:C0334605|DOID:7212
MONDO:0004140	intermediate malignant teratoma	biolink:Disease	mondo	DOID:7202|ICDO:9083/3|NCIT:C4288|UMLS:C0334522		malignant teratoma, intermediate (morphologic abnormality)|Intermediate immature teratoma|malignant teratoma, intermediate	http://purl.obolibrary.org/obo/MONDO_0004140	An immature teratoma characterized by the presence of an intermediate amount of undifferentiated tissues.	NCIT:C4288|DOID:7202|UMLS:C0334522
MONDO:0004142	lung combined large cell neuroendocrine carcinoma	biolink:Disease	mondo	UMLS:C1333122|NCIT:C7267|DOID:7207		pulmonary combined large cell neuroendocrine carcinoma|combined large cell neuroendocrine carcinoma of lung|combined large cell neuroendocrine carcinoma of the lung|combined large cell lung neuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0004142	A subtype of large cell neuroendocrine lung carcinoma characterized by the presence of large neuroendocrine cells in combination with adenocarcinoma, squamous cell carcinoma, giant cell carcinoma and/ or spindle cell carcinoma.	DOID:7207|UMLS:C1333122|NCIT:C7267
MONDO:0004141	melanomatosis	biolink:Disease	mondo	UMLS:C1334691|NCIT:C9499|DOID:7206		melanomatosis	http://purl.obolibrary.org/obo/MONDO_0004141		DOID:7206|UMLS:C1334691|NCIT:C9499
HGNC:26200	STN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26200		
MONDO:0016119	obsolete mitochondrial myopathy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016119		
HP:0007858	Chorioretinal lacunae	biolink:PhenotypicFeature	mondo	UMLS:C1844751|UMLS:C4072866	hposlim_core	Lacunar retinal depigmentation	http://purl.obolibrary.org/obo/HP_0007858	Punched out lesions in the pigmented layer of the retina.	
MONDO:0043707	mediastinal disease	biolink:Disease	mondo	SCTID:49483002|MESH:D008477|UMLS:C0025061|NCIT:C26826		disorder of mediastinum|disease or disorder of mediastinum|disease, mediastinal|mediastinum disease|mediastinal disorder|mediastinum disease or disorder|disorder of mediastinum|disease of mediastinum|diseases, mediastinal|mediastinal disease	http://purl.obolibrary.org/obo/MONDO_0043707	A non-neoplastic or neoplastic disorder that affects the structures of the mediastinum. Representative examples include mediastinitis, mediastinal lipoma, mediastinal schwannoma, thymoma, and mediastinal lymphoma.	UMLS:C0025061|MESH:D008477|SNOMEDCT:49483002|NCIT:C26826
GO:0033490	cholesterol biosynthetic process via lathosterol	biolink:OntologyClass	mondo			cholesterol formation via lathosterol|cholesterol biosynthesis via lathosterol|cholesterol anabolism via lathosterol|cholesterol synthesis via lathosterol	http://purl.obolibrary.org/obo/GO_0033490	The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, via the intermediate lathosterol.	
MONDO:0018778	intermediate Charcot-Marie-Tooth disease	biolink:Disease	mondo	DOID:0050543|UMLS:CN776860|Orphanet:476123	ordo_group_of_disorders	Charcot-Marie-Tooth disease dominant intermediate|Charcot-Marie-Tooth disease intermediate type|Intermediate hereditary motor and sensory neuropathy|Charcot-Marie-Tooth disease recessive intermediate	http://purl.obolibrary.org/obo/MONDO_0018778		ORPHA:476123|DOID:0050543|UMLS:CN776860
MONDO:0016115	bulbospinal muscular atrophy of adulthood	biolink:Disease	mondo	ICD10:G12.2|Orphanet:206707	ordo_group_of_disorders	bulbospinal muscular atrophy of adults|bulbospinal muscular atrophy of adult|adult bulbospinal muscular atrophy	http://purl.obolibrary.org/obo/MONDO_0016115	A bulbospinal muscular atrophy that occurs in an adult.	ORPHA:206707
MONDO:0016116	generalized bulbospinal muscular atrophy	biolink:Disease	mondo	ICD10:G12.2|Orphanet:206710	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0016116		ORPHA:206710
MONDO:0018777	autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome	biolink:Disease	mondo	UMLS:CN776826|Orphanet:476119	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0018777		ORPHA:476119|UMLS:CN776826
MONDO:0016117	muscular lipidosis	biolink:Disease	mondo	SCTID:240095001|UMLS:C0410214|ICD9:359.89|Orphanet:206953	ordo_group_of_disorders	lipid storage myopathy	http://purl.obolibrary.org/obo/MONDO_0016117		SNOMEDCT:240095001|ORPHA:206953|UMLS:C0410214
MONDO:0018779	hypercontractile muscle stiffness syndrome	biolink:Disease	mondo	Orphanet:476403|UMLS:CN776841	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018779		ORPHA:476403|UMLS:CN776841
MONDO:0016118	muscular glycogenosis	biolink:Disease	mondo	Orphanet:206959|ICD10:E74.0	ordo_group_of_disorders	glycogen storage myopathy	http://purl.obolibrary.org/obo/MONDO_0016118		ORPHA:206959
MONDO:0018774	erythrokeratodermia-cardiomyopathy syndrome	biolink:Disease	mondo	Orphanet:476096|UMLS:CN776912	ordo_disease	EKC syndrome	http://purl.obolibrary.org/obo/MONDO_0018774	Erythrokeratodermia-cardiomyopathy syndrome is a rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis.	ORPHA:476096|UMLS:CN776912
MONDO:0016111	obsolete non-dystrophic myopathy with collagen 6 anomaly	biolink:Disease	mondo	Orphanet:206659			http://purl.obolibrary.org/obo/MONDO_0016111		ORPHA:206659
MONDO:0018773	autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome	biolink:Disease	mondo	Orphanet:476093|UMLS:CN776822	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018773		ORPHA:476093|UMLS:CN776822
MONDO:0016112	inclusion myopathy	biolink:Disease	mondo	Orphanet:206662|ICD10:G71.8|GARD:0001658	ordo_group_of_disorders|gard_rare	cytoplasmic body myopathy	http://purl.obolibrary.org/obo/MONDO_0016112		ORPHA:206662
MONDO:0018776	demyelinating hereditary motor and sensory neuropathy	biolink:Disease	mondo	Orphanet:476116	ordo_group_of_disorders	demyelinating HMSN	http://purl.obolibrary.org/obo/MONDO_0018776		ORPHA:476116
MONDO:0016113	bulbospinal muscular atrophy	biolink:Disease	mondo	ICD10:G12.2|SCTID:230253001|Orphanet:206701	ordo_group_of_disorders	bulbospinal muscular atrophy|spinal and bulbal muscular atrophy|SBMA|spinal-bulbar muscular atrophy	http://purl.obolibrary.org/obo/MONDO_0016113		ORPHA:206701|SNOMEDCT:230253001
MONDO:0016114	bulbospinal muscular atrophy of childhood	biolink:Disease	mondo	Orphanet:206704|ICD10:G12.2	ordo_group_of_disorders	pediatric bulbospinal muscular atrophy|pediatric bulbospinal muscular atrophy|childhood bulbospinal muscular atrophy|bulbospinal muscular atrophy of childhood	http://purl.obolibrary.org/obo/MONDO_0016114	A bulbospinal muscular atrophy that occurs during childhood.	ORPHA:206704
MONDO:0018775	axonal hereditary motor and sensory neuropathy	biolink:Disease	mondo	Orphanet:476109	ordo_group_of_disorders	axonal HMSN	http://purl.obolibrary.org/obo/MONDO_0018775		ORPHA:476109
MONDO:0018770	Jeune syndrome	biolink:Disease	mondo	ICD10:Q77.2|MESH:C537571|DOID:0050592|OMIMPS:208500|NCIT:C84794|Orphanet:474|UMLS:C0265275|MedDRA:10057621|GARD:0003049|SCTID:75049004	ordo_malformation_syndrome	Jeune's syndrome|ATD|Jeune asphyxiating thoracic dystrophy|Chondroectodermal dysplasia-like syndrome|thoracic pelvic phalangeal dystrophy|asphyxiating thoracic dystrophy of the newborn|Jeune syndrome|short-rib thoracic dysplasia with or without polydactyly|asphyxiating thoracic dystrophy|short-rib thoracic dysplasia|JATD|infantile thoracic dystrophy	http://purl.obolibrary.org/obo/MONDO_0018770	Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes.	MEDDRA:10057621|SNOMEDCT:75049004|NCIT:C84794|MESH:C537571|UMLS:C0265275|ORPHA:474|DOID:0050592
MONDO:0018772	Joubert syndrome	biolink:Disease	mondo	NCIT:C74996|SCTID:716997004|ICD10:Q04.3|OMIMPS:213300|GARD:0006802|DOID:0050777|Orphanet:475	ordo_disease	classic Joubert syndrome|Joubert-Boltshauser syndrome|JBTS|CPD IV|cerebelloparenchymal disorder IV|pure Joubert syndrome|cerebellar vermis agenesis|Joubert syndrome type A	http://purl.obolibrary.org/obo/MONDO_0018772	Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.	DOID:0050777|NCIT:C74996|SNOMEDCT:716997004|ORPHA:475
HGNC:16882	HCN4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16882		
MONDO:0018771	congenital anomaly of ventricular septum	biolink:Disease	mondo	Orphanet:474347	ordo_group_of_disorders	congenital ventricular septal anomaly|interventricular septum congenital heart malformation|congenital heart malformation of interventricular septum|congenital anomaly of interventricular communication|rare congenital anomaly of ventricular septum	http://purl.obolibrary.org/obo/MONDO_0018771	A congenital heart malformation that involves the interventricular septum.	ORPHA:474347
MONDO:0016110	non-dystrophic myopathy	biolink:Disease	mondo	Orphanet:206656|SCTID:424795008|NCIT:C122787|UMLS:C1828221	ordo_group_of_disorders	non-dystrophic myotonia|non dystrophic myotonia	http://purl.obolibrary.org/obo/MONDO_0016110	A group of rare skeletal muscle ion-channel disorders caused by genetic mutations in the sodium and chloride channel genes. It is characterized by altered membrane excitability resulting in skeletal muscle stiffness. This group of myotonias is distinct from myotonic dystrophy because of the absence of systemic features or progressive weakness.	ORPHA:206656|SNOMEDCT:424795008|UMLS:C1828221|NCIT:C122787
HGNC:1739	CDC45	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1739		
CHEBI:48975	substituted aniline	biolink:ChemicalSubstance	mondo			substituted anilines	http://purl.obolibrary.org/obo/CHEBI_48975		
HGNC:1736	CDC42	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1736		
UBERON:0003328	mesenchyme of footplate	biolink:AnatomicalEntity	mondo			foot plate mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003328	Mesenchyme that is part of a footplate.	
UBERON:0003329	submucosa of anal canal	biolink:AnatomicalEntity	mondo			anal region submucosa|submucosa of anal canal viewed anatomically|anal canal submucosa|submucosa of anatomical anal canal|anatomical anal canal submucosa|submucosa of anal region|anal canal viewed anatomically submucosa	http://purl.obolibrary.org/obo/UBERON_0003329	A submucosa that is part of an anal canal [Automatically generated definition].	
NCBITaxon:1980486	Puumala orthohantavirus	organism taxon	mondo	GC_ID:1		Puumala hantavirus|Puumala virus PV|nephropathia epidemica virus|Puumala virus|Puumalavirus	http://purl.obolibrary.org/obo/NCBITaxon_1980486		
UBERON:0005992	pulmonary valve cusp	biolink:AnatomicalEntity	mondo			pulmonary valvular cusp|pulmonary semilunar valvule|semilunar cusp of pulmonary valve|cusp of pulmonary valve|semilunar valvule of pulmonary valve	http://purl.obolibrary.org/obo/UBERON_0005992	The three fibrous triangular components and associated flap of the pulmonary valve	
UBERON:0005991	aortic valve anulus	biolink:AnatomicalEntity	mondo			aortic valvar anulus|anulus of aortic valve|fibrous ring of aortic valve|aortic anulus	http://purl.obolibrary.org/obo/UBERON_0005991	The fibrous ring of the aortic valve that attaches the cusps of aortic valve to the wall of left ventricle, and which consists of portions of the fibrous scallops of the posterior, right anterior and left anterior cusps	
UBERON:0003330	submucosa of rectum	biolink:AnatomicalEntity	mondo			rectal submucosa|rectum submucosa|tela submucosa recti	http://purl.obolibrary.org/obo/UBERON_0003330	The submucous layer of the wall of the rectum.	
UBERON:0005990	aortic valve cusp	biolink:AnatomicalEntity	mondo			semilunar valvule of aortic valve|cusp of aortic valve|aortic valvular cusp|aortic semilunar valvule	http://purl.obolibrary.org/obo/UBERON_0005990	The three fibrous triangular components and associated flap of the aortic valve	
UBERON:0003337	serosa of jejunum	biolink:AnatomicalEntity	mondo			jejunal serosa|jejunum serous membrane|serous membrane of jejunum|jejunum serosa|visceral peritoneum of jejunum	http://purl.obolibrary.org/obo/UBERON_0003337	A serous membrane that is part of a jejunum [Automatically generated definition].	
HGNC:1742	LRBA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1742		
UBERON:0003338	ganglion of peripheral nervous system	biolink:AnatomicalEntity	mondo			peripheral nervous system ganglion	http://purl.obolibrary.org/obo/UBERON_0003338	A spatially aggregated collection of nerve cell bodies in the PNS, consisting of one or more subpopulations that share cell type, chemical phenotype, and connections. (CUMBO).	
UBERON:0005998	tricuspid valve cusp	biolink:AnatomicalEntity	mondo			septal leaflet of right-sided tricuspid valve|cuspis septalis valvae atrioventricularis dextrae|septal cusp of right atrioventricular valve|septal tricuspid leaflet|septal cusp of tricuspid valve|septal leaflet of tricuspid valve|cuspis septalis (valva tricuspidalis)	http://purl.obolibrary.org/obo/UBERON_0005998	The three fibrous triangular components and associated flaps of the tricuspid valve	
UBERON:0003335	serosa of colon	biolink:AnatomicalEntity	mondo			serosa of large bowel|colon serous membrane|colonic serosa|large bowel serous membrane|large bowel serosa|serous membrane of colon|colon serosa|serous membrane of large bowel|visceral peritoneum of colon	http://purl.obolibrary.org/obo/UBERON_0003335	A serous membrane that is part of a colon [Automatically generated definition].	
UBERON:0003336	serosa of duodenum	biolink:AnatomicalEntity	mondo			visceral peritoneum of duodenum|duodenum serosa|serous membrane of duodenum|duodenal serosa|doudenal serosa|duodenum serous membrane	http://purl.obolibrary.org/obo/UBERON_0003336	A serous membrane that is part of a duodenum [Automatically generated definition].	
UBERON:0005997	tricuspid valve anulus	biolink:AnatomicalEntity	mondo			fibrous ring of tricuspid valve|tricuspid valvar anulus|tricuspid anulus|anulus of tricuspid valve	http://purl.obolibrary.org/obo/UBERON_0005997	The fibrous ring of the tricuspid valve that attaches the cusps of tricuspid valve to the heart, and which consists of portions of the fibrous scallops of the anterior cusp (infundibular cusp), the posterior cusp (marginal cusp), and the septal cusp (medial cusp)	
UBERON:0005996	mitral valve cusp	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005996	The two fibrous components and associated flaps of the mitral valve	
CHEBI:2571	aliphatic alcohol	biolink:ChemicalSubstance	mondo			an aliphatic alcohol|Aliphatic alcohol|aliphatic alcohols	http://purl.obolibrary.org/obo/CHEBI_2571	An  alcohol derived from an aliphatic compound.	
UBERON:0003333	submucosa of jejunum	biolink:AnatomicalEntity	mondo			jejunal submucosa|jejunum submucosa	http://purl.obolibrary.org/obo/UBERON_0003333	A submucosa that is part of a jejunum [Automatically generated definition].	
UBERON:0005995	mitral valve anulus	biolink:AnatomicalEntity	mondo			fibrous ring of mitral valve|mitral valvar anulus|anulus of mitral valve|mitral anulus|mitral annulus	http://purl.obolibrary.org/obo/UBERON_0005995	The fibrous ring of the mitral valve that attaches the cusps of mitral valve to the heart, and which consists of portions of the fibrous scallops of the anterior and posterior cusps	
UBERON:0003334	serosa of rectum	biolink:AnatomicalEntity	mondo			rectum serous membrane|rectum serosa|visceral peritoneum of rectum|rectal serosa|serous membrane of rectum	http://purl.obolibrary.org/obo/UBERON_0003334	A serous membrane that is part of a rectum [Automatically generated definition].	
UBERON:0005994	chorda tendineae	biolink:AnatomicalEntity	mondo			chordae tendineae cordis|chordae tendinea	http://purl.obolibrary.org/obo/UBERON_0005994	The tendinous strands that connect the papillary muscles on the wall of the ventricles to the leaflets of the atrioventricular valves; the chordae tendineae serve to prevent the AV valves from prolapsing back into the atria	
UBERON:0003331	submucosa of colon	biolink:AnatomicalEntity	mondo			colon submucosa|submucosa of large bowel|large bowel submucosa|colonic submucosa	http://purl.obolibrary.org/obo/UBERON_0003331	A submucosa that is part of a colon [Automatically generated definition].	
UBERON:0003332	submucosa of duodenum	biolink:AnatomicalEntity	mondo			duodenum submucosa|doudenal submucosa|duodenal submucosa	http://purl.obolibrary.org/obo/UBERON_0003332	A submucosa that is part of a duodenum [Automatically generated definition].	
UBERON:0005993	pulmonary valve anulus	biolink:AnatomicalEntity	mondo			fibrous ring of pulmonary valve|pulmonary anulus|pulmonary valvar anulus|anulus of pulmonary valve	http://purl.obolibrary.org/obo/UBERON_0005993	The fibrous ring of the pulmonary valve that attaches the cusps of pulmonary valve to the wall of right ventricle, and which consists of portions of the fibrous scallops of the anterior, right posterior and left posterior cusps	
MONDO:0006705	Bacteroidaceae infectious disease	biolink:Disease	mondo	MESH:D016866|EFO:1000872|UMLS:C0085392		Bacteroidaceae caused disease or disorder|infection, Bacteroidaceae|Bacteroidaceae disease or disorder|infections, Bacteroidaceae|Bacteroidaceae infection	http://purl.obolibrary.org/obo/MONDO_0006705	Infections with bacteria of the family BACTEROIDACEAE.	MESH:D016866|UMLS:C0085392
MONDO:0006706	Bifidobacteriales infectious disease	biolink:Disease	mondo	MESH:D039941|UMLS:C1136339|EFO:1000873		infection, Bifidobacteriales|Bifidobacteriales infection|Bifidobacteriales disease or disorder|Bifidobacteriales caused disease or disorder|infections, Bifidobacteriales	http://purl.obolibrary.org/obo/MONDO_0006706	Infections with BACTERIA of the order Bifidobacteriales. This includes infections in the genera BIFIDOBACTERIUM and GARDNERELLA, in the family Bifidobacteriaceae.	UMLS:C1136339|MESH:D039941
HGNC:1748	CDH1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1748		
MONDO:0006703	obsolete chronic interstitial cystitis	biolink:Disease	mondo			interstitial cystitis, chronic	http://purl.obolibrary.org/obo/MONDO_0006703	Chronic form of interstitial cystitis.	
MONDO:0006704	CNS demyelinating autoimmune disease	biolink:Disease	mondo	MESH:D020278|EFO:1000870			http://purl.obolibrary.org/obo/MONDO_0006704	Conditions characterized by loss or dysfunction of myelin (see myelin sheath) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or oligodendroglia associated autoantigens.	MESH:D020278
MONDO:0006701	chromophobe adenoma	biolink:Disease	mondo	MESH:D000238|ICDO:8270/0|UMLS:C0001432|EFO:1000867|DOID:3828|NCIT:C2857		chromophobe adenoma of the pituitary gland|pituitary gland chromophobe adenoma|pituitary chromophobe adenoma|chromophobe adenoma of pituitary gland	http://purl.obolibrary.org/obo/MONDO_0006701	An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells do not stain with acidic or basic dyes.	DOID:3828|UMLS:C0001432|MESH:D000238|NCIT:C2857
UBERON:0003319	mesenchyme of carpal region	biolink:AnatomicalEntity	mondo			mesenchyme of wrist|carpus mesenchyme|carpal region mesenchyme|wrist mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003319	Mesenchyme of the carpal region that contributes to the carpal skeleton.	
HGNC:28844	FBXO38	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28844		
MONDO:0006702	chronic inflammatory demyelinating polyradiculoneuropathy	biolink:Disease	mondo	ICD10:G61.81|DOID:5213|MedDRA:10057645|EFO:1000868|MESH:D020277|ICD9:357.81|SCTID:128209004|ICD9:357.89		CIDP|chronic relapsing polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0006702	A rare neurological disorder in which there is inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers. This causes weakness, paralysis and/or impairment in motor function, especially of the arms and legs (limbs). Sensory disturbance may also be present. The motor and sensory impairments usually affect both sides of the body (symmetrical), and the degree of severity and the course of disease may vary from case to case. Some affected individuals may follow a slow steady pattern of symptoms while others may have symptoms that stabilize and then relapse.	MESH:D020277|DOID:5213|SNOMEDCT:128209004
HGNC:28845	MED25	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28845		
HGNC:1744	CDC6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1744		
MONDO:0006700	choroid cancer	biolink:Disease	mondo	DOID:12759|NCIT:C3566|SCTID:363466008|EFO:1000866|ICD10:C69.3|ICD9:190.6|MESH:D002830|MedDRA:10057405		malignant choroid neoplasm|choroidal tumor|malignant neoplasm of the choroid|malignant neoplasm of choroid|malignant neoplasm of optic choroid|malignant choroid tumor|neoplasm of choroid|choroid neoplasm|optic choroid cancer|malignant tumor of the choroid|malignant optic choroid neoplasm|malignant tumor of choroid|cancer of optic choroid	http://purl.obolibrary.org/obo/MONDO_0006700	A malignant neoplasm involving the optic choroid.	DOID:12759|NCIT:C3566|MESH:D002830|SNOMEDCT:363466008
UBERON:0003318	mesenchyme of elbow	biolink:AnatomicalEntity	mondo			mesenchyme of cubital region|cubital region mesenchyme|elbow mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003318	Mesenchyme that is part of a developing elbow [Automatically generated definition].	
UBERON:0005979	crista terminalis	biolink:AnatomicalEntity	mondo			crista terminalis cordis|crista terminalis atrii dextri|crista terminalis of right atrium	http://purl.obolibrary.org/obo/UBERON_0005979	The vertical crest of the interior wall of the right atrium that lies to the right of the sinus of the vena cava and separates this from the remainder of the right atrium	
NCBITaxon:1980491	Sin Nombre orthohantavirus	organism taxon	mondo	GC_ID:1		Sin Nombre virus|Sin Nombre hantavirus	http://purl.obolibrary.org/obo/NCBITaxon_1980491		
NCBITaxon:1980490	Seoul orthohantavirus	organism taxon	mondo	GC_ID:1		Seoul hantavirus|epidemic hemorrhagic fever virus|Seoul virus	http://purl.obolibrary.org/obo/NCBITaxon_1980490		
HGNC:14203	JPH3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14203		
UBERON:0003326	mesenchyme of mammary gland	biolink:AnatomicalEntity	mondo			mesenchyme of lobe of breast|lobe of breast mesenchyme|lactiferous gland mesenchyme|mesenchyme of lobe of mammary gland|mammary mesenchyme|mammary gland mesenchyme|lobe of mammary gland mesenchyme|mesenchyme of lactiferous gland	http://purl.obolibrary.org/obo/UBERON_0003326	Mesenchyme that is part of a developing mammary gland.	
UBERON:0005989	atrioventricular septum	biolink:AnatomicalEntity	mondo			membranous atrioventricular septum	http://purl.obolibrary.org/obo/UBERON_0005989	The wall of the heart that separates the right atrium and left ventricle; and is located just above the septal cusp of the tricuspid valve	
UBERON:0003327	mesenchyme of forearm	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0003327	Mesenchyme that is part of a developing lower arm [Automatically generated definition].	
UBERON:0005988	atrium myocardial trabecula	biolink:AnatomicalEntity	mondo			atrium myocardial trabeculae|trabecula of atrium|atrial trabecula|trabecular layer of atrium|trabecular layer of the atrium	http://purl.obolibrary.org/obo/UBERON_0005988	The supporting bundles of muscular fibers lining the walls of the atrial myocardium	
HGNC:1754	CDH15	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1754		
UBERON:0003324	mesenchyme of lower jaw	biolink:AnatomicalEntity	mondo			lower jaw mesenchyme|ventral mandibular arch mesenchyme|mesenchyme of ventral mandibular arch	http://purl.obolibrary.org/obo/UBERON_0003324	Mesenchyme that is part of a developing lower jaw [Automatically generated definition].	
HGNC:14201	JPH1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14201		
UBERON:0003325	mesenchyme of pinna	biolink:AnatomicalEntity	mondo			auricle of ear mesenchyme|mesenchyme of auricula (auris externa)|mesenchyme of auricle of external ear|auricle mesenchyme|auricula mesenchyme|mesenchyme of pinna of ear|pinna of ear mesenchyme|mesenchyme of auricula|mesenchyme of auricle|pinna mesenchyme|auricula (auris externa) mesenchyme|auricle of external ear mesenchyme|mesenchyme of auricle of ear	http://purl.obolibrary.org/obo/UBERON_0003325	Mesenchyme that is part of a developing pinna [Automatically generated definition].	
HGNC:14202	JPH2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14202		
UBERON:0005985	coronary vessel	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005985	Any of the arteries or veins that supply blood to the heart or return blood from the heart muscles to the circulation	
UBERON:0003322	mesenchyme of shoulder	biolink:AnatomicalEntity	mondo			shoulder mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003322	Mesenchyme that is part of a developing shoulder [Automatically generated definition].	
OIO:hasNarrowSynonym	has_narrow_synonym	biolink:OntologyClass	mondo				http://www.geneontology.org/formats/oboInOwl#hasNarrowSynonym		
UBERON:0003323	mesenchyme of upper jaw	biolink:AnatomicalEntity	mondo			palatoquadrate arch mesenchyme|upper jaw mesenchyme|mesenchyme of palatoquadrate arch	http://purl.obolibrary.org/obo/UBERON_0003323	Mesenchyme that is part of a developing upper jaw [Automatically generated definition].	
UBERON:0005984	subendocardium layer	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005984	The layer of loose fibrous tissue located between the endocardium and myocardium which contains the nerves and the impulse-conducting system (Purkinje fibers) of the heart	
UBERON:0003320	mesenchyme of hip	biolink:AnatomicalEntity	mondo			mesenchyme of regio coxae|hip mesenchyme|mesenchyme of hip region|hip region mesenchyme|regio coxae mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003320	Mesenchyme that is part of a developing hip [Automatically generated definition].	
UBERON:0005983	heart layer	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005983	The laminar structure of the heart	
UBERON:0003321	mesenchyme of knee	biolink:AnatomicalEntity	mondo			knee mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003321	Mesenchyme that is part of a developing knee [Automatically generated definition].	
HGNC:1759	CDH2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1759		
NCBITaxon:9526	Catarrhini	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_9526		
FOODON:03412846	obsolete: bacteria	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03412846		
NCBITaxon:1980467	Dobrava-Belgrade orthohantavirus	organism taxon	mondo	GC_ID:1		Dobrava-Belgrade hantavirus|Dobrava virus|Dobravavirus|Dobrava-Belgrade virus	http://purl.obolibrary.org/obo/NCBITaxon_1980467		
CHEBI:36962	organochalcogen compound	biolink:ChemicalSubstance	mondo			organochalcogen compounds|organochalcogen compound	http://purl.obolibrary.org/obo/CHEBI_36962	An organochalcogen compound is a compound containing at least one carbon-chalcogen bond.	
UBERON:0005970	brain commissure	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0005970	any of the nerve fiber tracts that span the longitudinal fissure between the cerebral and/or cerebellar hemispheres of the brain	
UBERON:1000011	labial commissure	biolink:AnatomicalEntity	mondo			corner of mouth|commissural lip|commissura labiorum oris	http://purl.obolibrary.org/obo/UBERON_1000011	Anatomical structure consisting of either corner of the mouth.	
CHEBI:36963	organooxygen compound	biolink:ChemicalSubstance	mondo			organooxygen compounds|organooxygen compound	http://purl.obolibrary.org/obo/CHEBI_36963	An organochalcogen compound containing at least one carbon-oxygen bond.	
CHEBI:36961	chalcocarbonic acid	biolink:ChemicalSubstance	mondo			chalcocarbonic acid|chalcocarbonic acids|chalcocarbonic acids	http://purl.obolibrary.org/obo/CHEBI_36961		
UBERON:0003315	mesenchyme of ovary	biolink:AnatomicalEntity	mondo			mesenchyme of female reproductive system gonad|mesenchyme of female reproductive system gonada|gonada of female reproductive system mesenchyme|ovary mesenchyme|gonad of female reproductive system mesenchyme|mesenchyme of gonada of female reproductive system|mesenchyme of gonad of female reproductive system|female reproductive system gonad mesenchyme|female reproductive system gonada mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003315	Mesenchyme that is part of a developing ovary [Automatically generated definition].	
UBERON:0003316	mesenchyme of yolk sac	biolink:AnatomicalEntity	mondo			yolk sac mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003316	The portion of the yolk sac that is derived from mesoderm and consists of mesenchyme.	
HGNC:1762	CDH3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1762		
UBERON:0003314	eye mesenchyme	biolink:AnatomicalEntity	mondo			mesenchyme of eye	http://purl.obolibrary.org/obo/UBERON_0003314	Mesenchyme that is part of a developing camera-type eye.	
UBERON:0003312	mesenchyme of testis	biolink:AnatomicalEntity	mondo			testis mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003312	Mesenchyme that is part of a developing testis [Automatically generated definition].	
UBERON:0005971	amniotic fold	biolink:AnatomicalEntity	mondo			amnionic fold	http://purl.obolibrary.org/obo/UBERON_0005971	A sheet of somatopleure that grows upward over the embryo and eventually meets in the midline enclosing the embryo, eventually giving rise to the amnion and chorion[Kardong].	
CHEBI:24995	lactam	biolink:ChemicalSubstance	mondo			lactams|Laktame|Laktam|lactam|lactams	http://purl.obolibrary.org/obo/CHEBI_24995	Cyclic amides of amino carboxylic acids, having a 1-azacycloalkan-2-one structure, or analogues having unsaturation or heteroatoms replacing one or more carbon atoms of the ring.	
NCBITaxon:55194	Malassezia furfur	organism taxon	mondo	GC_ID:1		Saccharomyces ovalis|Pityrosporum ovale|Pityrosporum orbiculare|Pityriasis (Tinea) versicolor infection agent	http://purl.obolibrary.org/obo/NCBITaxon_55194		
CHEBI:22333	alkylating agent	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_22333	Highly reactive chemical that introduces alkyl radicals into biologically active molecules and thereby prevents their proper functioning. It could be used as an antineoplastic agent, but it might be very toxic, with carcinogenic, mutagenic, teratogenic, and immunosuppressant actions. It could also be used as a component of poison gases.	
NCBITaxon:55193	Malassezia	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_55193		
NCBITaxon:1980476	Laguna Negra orthohantavirus	organism taxon	mondo	GC_ID:1		Laguna Negra virus|Laguna Negra hantavirus	http://purl.obolibrary.org/obo/NCBITaxon_1980476		
UBERON:1000021	skin of face	biolink:AnatomicalEntity	mondo			face skin|facial skin	http://purl.obolibrary.org/obo/UBERON_1000021	A zone of skin that is part of the face.	
UBERON:1000023	spleen pulp	biolink:AnatomicalEntity	mondo			pulp of spleen|Malpighian corpuscles|splenic pulp	http://purl.obolibrary.org/obo/UBERON_1000023	The parenchyma of the spleen, consisting of lymphocytes and macrophages. It lies between the splenic trabecula. Red pulp is the part suffused with blood and white pulp consists of areas of lymphatic tissue where there are sleeves of lymphocytes and macrophages.	
UBERON:1000024	parenchyma of spleen	biolink:AnatomicalEntity	mondo			splenic parenchyma	http://purl.obolibrary.org/obo/UBERON_1000024	A parenchyma that is part of a spleen.	
UBERON:0003304	mesoderm blood island	biolink:AnatomicalEntity	mondo			mesenchyme blood island|mesoderm blood islands	http://purl.obolibrary.org/obo/UBERON_0003304	A blood island that is part of a mesoderm.	
UBERON:0005966	outflow part of left atrium	biolink:AnatomicalEntity	mondo			main part of left atrium|outflow tract of left atrium	http://purl.obolibrary.org/obo/UBERON_0005966	An outflow tract of atrium that is part of a left atrium.	
UBERON:0003302	roof plate of metencephalon	biolink:AnatomicalEntity	mondo			epencephalon-2 roofplate|roofplate medulla metencephalon|roofplate of metencephalon|epencephalon-2 roof plate|metencephalon roofplate|roofplate of epencephalon-2|roof plate metencephalon|metencephalon roof plate|roof plate of epencephalon-2	http://purl.obolibrary.org/obo/UBERON_0003302	A roof plate that is part of a metencephalon [Automatically generated definition].	
UBERON:0005965	outflow part of right atrium	biolink:AnatomicalEntity	mondo			main part of right atrium|outflow tract of right atrium	http://purl.obolibrary.org/obo/UBERON_0005965	Outflow part of atrium which consists of wall and cavity of the outflow part of right atrium and the tricuspid valve.[FMA]	
HGNC:1773	CDK4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1773		
UBERON:0003303	roof plate of medulla oblongata	biolink:AnatomicalEntity	mondo			roofplate of medulla oblonmgata|roofplate of medulla oblongata|roof plate of bulb|bulb roofplate|medulla oblongata roofplate|roofplate of metepencephalon|roof plate of medulla oblonmgata|metepencephalon roof plate|metepencephalon roofplate|medulla oblonmgata roof plate|medulla oblonmgata roofplate|roofplate medulla oblongata|roofplate of bulb|medulla oblongata roof plate|roof plate of metepencephalon|bulb roof plate|roof plate medulla oblongata	http://purl.obolibrary.org/obo/UBERON_0003303	A roof plate that is part of a medulla oblongata [Automatically generated definition].	
HGNC:16841	LITAF	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16841		
HGNC:1774	CDK5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1774		
UBERON:0003300	roof plate of telencephalon	biolink:AnatomicalEntity	mondo			roofplate medulla telencephalon|roofplate of telencephalon|telencephalon roofplate|roof plate telencephalon|telencephalon roof plate	http://purl.obolibrary.org/obo/UBERON_0003300	A roof plate that is part of a telencephalon [Automatically generated definition].	
UBERON:0003301	roof plate of diencephalon	biolink:AnatomicalEntity	mondo			roof plate of interbrain|roofplate of diencephalon|interbrain roofplate|mature diencephalon roofplate|between brain roof plate|roof plate of between brain|roof plate diencephalon|diencephalon roof plate|roof plate of mature diencephalon|roofplate of interbrain|diencephalon roofplate|roofplate medulla diencephalon|roofplate of between brain|roof plate diencephalic region|interbrain roof plate|between brain roofplate|mature diencephalon roof plate|roofplate of mature diencephalon	http://purl.obolibrary.org/obo/UBERON_0003301	A roof plate that is part of a diencephalon [Automatically generated definition].	
CHEBI:36970	vitamin B6 phosphate	biolink:ChemicalSubstance	mondo			vitamin B6 phosphates|vitamin B-6 phosphates	http://purl.obolibrary.org/obo/CHEBI_36970		
MONDO:0006738	eccrine acrospiroma	biolink:Disease	mondo	MESH:D018250|DOID:5442|EFO:1000912|ONCOTREE:PORO|GARD:0005726|NCIT:C27273|SCTID:400099008	gard_rare	solid-cystic hidradenoma|clear-cell Hidradrenomas|Hidradenomas|acrospiromas, eccrine|hidradenoma|solid-cystic Hidradenomas|clear-cell Hidradrenoma|clear cell Hidradrenoma|acrospiromas|nodular Hidradrenomas|eccrine acrospiroma|eccrine hidradenoma of skin|eccrine Acrospiromas|Hidradenomas, solid-cystic|poroma|acrospiroma, eccrine|Hidradrenoma, clear-cell|poroma/acrospiroma|hidradenoma, solid-cystic|Hidradrenomas, clear-cell|poroma (acrospiroma)|nodular Hidradrenoma|eccrine poroma|solid cystic hidradenoma|Hidradrenomas, nodular|Hidradrenoma, nodular|eccrine hidradenoma	http://purl.obolibrary.org/obo/MONDO_0006738	A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors.	SNOMEDCT:400099008|DOID:5442|NCIT:C27273|MESH:D018250
MONDO:0006739	Ehrlich tumor carcinoma	biolink:Disease	mondo	MESH:D002286|EFO:1000913|UMLS:C0007125|DOID:5050		Ehrlich's tumor	http://purl.obolibrary.org/obo/MONDO_0006739	A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms.	MESH:D002286|DOID:5050|UMLS:C0007125
MONDO:0006736	dysplasia of cervix	biolink:Disease	mondo	ICD9:622.11|EFO:1000910|COHD:192367|UMLS:C0007868|MESH:D002578|ICD9:622.10|ICD10:N87|MedDRA:10013957|ICD9:622.1|SCTID:73391008			http://purl.obolibrary.org/obo/MONDO_0006736	Abnormal development of immature squamous epithelial cells of the uterine cervix, a term used to describe premalignant cytological changes in the cervical epithelium. These atypical cells do not penetrate the epithelial basement membrane.	MESH:D002578|SNOMEDCT:73391008|UMLS:C0007868
MONDO:0006737	dystocia	biolink:Disease	mondo	EFO:1000911|MESH:D004420			http://purl.obolibrary.org/obo/MONDO_0006737	Slow or difficult obstetric labor or childbirth.	MESH:D004420
GO:0070470	plasma membrane respirasome	biolink:OntologyClass	mondo			plasma membrane respiratory chain|plasma membrane electron transport chain	http://purl.obolibrary.org/obo/GO_0070470	A respiratory chain located in the plasma membrane of a cell; made up of the protein complexes that form the electron transport system (the respiratory chain), associated with the plasma membrane. The respiratory chain complexes transfer electrons from an electron donor to an electron acceptor and are associated with a proton pump to create a transmembrane electrochemical gradient.	
MONDO:0006734	benign duodenal neoplasm	biolink:Disease	mondo	NCIT:C4775|MedDRA:10004251|EFO:1000907|DOID:1737|SCTID:92080005		benign neoplasm of the duodenum|neoplasm of duodenum|neoplasm of the duodenum|duodenum benign neoplasm|benign duodenal tumor|benign tumor of duodenum|duodenal benign neoplasm|benign tumor of the duodenum|benign neoplasm of duodenum|benign duodenal neoplasm	http://purl.obolibrary.org/obo/MONDO_0006734	A non-metastasizing neoplasm arising from the wall of the duodenum.	DOID:1737|NCIT:C4775|SNOMEDCT:92080005
MONDO:0006735	duodenogastric reflux	biolink:Disease	mondo	MedDRA:10060865|EFO:1000909|MESH:D004383|UMLS:C0013299|DOID:4071		duodenogastric reflux (finding)	http://purl.obolibrary.org/obo/MONDO_0006735	Retrograde flow of duodenal contents (bile acids; pancreatic juice) into the stomach.	MESH:D004383|UMLS:C0013299|DOID:4071
MONDO:0006732	drug-induced dyskinesia	biolink:Disease	mondo	ICD9:333.99|SCTID:102448004|MedDRA:10013916|MESH:D004409|EFO:1000904|COHD:373185|GARD:0008236			http://purl.obolibrary.org/obo/MONDO_0006732	Abnormal movements, including hyperkinesis; hypokinesia; tremor; and dystonia, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see antipsychotic agents). (Adams et al., Principles of Neurology, 6th ed, p1199)	MESH:D004409|SNOMEDCT:102448004
HGNC:1777	CDK6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1777		
MONDO:0006733	dry eye syndrome	biolink:Disease	mondo	DOID:10140|MedDRA:100233350|MedDRA:10013777|SCTID:302896008|UMLS:C0022575|MESH:D007638|COHD:378427|NCIT:C34553|EFO:1001001|MESH:D015352|EFO:1000906|DOID:12895|SCTID:46152009|ICD9:375.15|ICD10:H04.12|UMLS:C0013238		dry eye|KCS|eye(s), dry|tear film insufficiency|sicca, keratoconjunctivitis|keratoconjunctivitis sicca|dry eye syndrome|dry eye(s)	http://purl.obolibrary.org/obo/MONDO_0006733	A syndrome characterized by dryness of the cornea and conjunctiva. It is usually caused by a deficiency in tear production. Symptoms include a feeling of burning eyes and a possible foreign body presence in the eye.	DOID:10140|SNOMEDCT:302896008|MESH:D015352|UMLS:C0013238|NCIT:C34553|MESH:D007638|SNOMEDCT:46152009|DOID:12895|UMLS:C0022575
MONDO:0006730	drug psychosis	biolink:Disease	mondo	DOID:1742|ICD9:292.1|MedDRA:10045855|SCTID:191483003|MESH:D011605|EFO:1000902		drug-induced psychosis|drug-induced psychotic disorder	http://purl.obolibrary.org/obo/MONDO_0006730	Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance.	MESH:D011605|SNOMEDCT:191483003|DOID:1742
MONDO:0006731	drug-induced akathisia	biolink:Disease	mondo	MESH:D017109|MedDRA:10001540|ICD9:333.99|SCTID:230333002|EFO:1000903|ICD10:G25.71			http://purl.obolibrary.org/obo/MONDO_0006731	An uncomfortable feeling of inner restlessness and inability to stay still. It can be a side effect of psychotropic medications.	NCIT:C78163|SNOMEDCT:230333002|MESH:D017109
NCBITaxon:1980442	Orthohantavirus	organism taxon	mondo	GC_ID:1		Hantavirus	http://purl.obolibrary.org/obo/NCBITaxon_1980442		
HGNC:16808	UBR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16808		
MONDO:0018719	obsolete rare capillary malformation with associated anomalies	biolink:Disease	mondo	Orphanet:458830|UMLS:CN242066			http://purl.obolibrary.org/obo/MONDO_0018719		ORPHA:458830|UMLS:CN242066
UBERON:0003373	ectoderm of footplate	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0003373	An ectoderm that is part of a footplate.	
MONDO:0018727	immunodeficiency due to a complement regulatory deficiency	biolink:Disease	mondo	Orphanet:459348	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018727		ORPHA:459348
MONDO:0018726	obsolete immunodeficiency due to a complement cascade component deficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018726		
ECTO:9001699	fuel exposure	biolink:OntologyClass	mondo			exposure to fuel	http://purl.obolibrary.org/obo/ECTO_9001699	An exposure to fuel.	
UBERON:0003374	chorionic ectoderm	biolink:AnatomicalEntity	mondo			chorionic epithelium|chorion ectoderm|chorion epithelium	http://purl.obolibrary.org/obo/UBERON_0003374	A extraembryonic structure that develops_from a ectoderm and is part of a chorion.	
UBERON:0003371	pelvic appendage bud ectoderm	biolink:AnatomicalEntity	mondo			hindlimb bud ectoderm|hindlimb ectoderm|lower limb bud ectoderm|pelvic fin bud ectoderm|hindlimb ectoderm|leg ectoderm	http://purl.obolibrary.org/obo/UBERON_0003371	An unilaminar epithelium that surrounds a pelvic appendage bud.	
MONDO:0018729	genetic vascular tumor	biolink:Disease	mondo	Orphanet:459543|UMLS:CN242080	ordo_group_of_disorders|obsoletion_candidate	genetic rare vascular tumor|rare genetic vascular tumor	http://purl.obolibrary.org/obo/MONDO_0018729	An instance of rare vascular tumor that is caused by a modification of the individual's genome.	UMLS:CN242080|ORPHA:459543
HGNC:16817	ESS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16817		
MONDO:0018728	obsolete rare genetic capillary malformation	biolink:Disease	mondo	UMLS:CN242077|Orphanet:459526	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018728		UMLS:CN242077|ORPHA:459526
UBERON:0003372	pectoral appendage bud ectoderm	biolink:AnatomicalEntity	mondo			wing ectoderm|forelimb ectoderm|forelimb bud ectoderm|pectoral fin bud ectoderm|upper limb bud ectoderm|arm ectoderm	http://purl.obolibrary.org/obo/UBERON_0003372	An unilaminar epithelium that surrounds a pectoral appendage bud.	
NCBITaxon:163158	Xenopsylla	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_163158		
MONDO:0018723	rare vascular malformation of major vessels	biolink:Disease	mondo	Orphanet:458844|UMLS:CN242093	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018723		UMLS:CN242093|ORPHA:458844
MONDO:0018722	obsolete primary lymphedema with associated anomalies	biolink:Disease	mondo	Orphanet:458841	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018722		ORPHA:458841
MONDO:0018725	corpus callosum agenesis-macrocephaly-hypertelorism syndrome	biolink:Disease	mondo	ICD10:Q04.0|UMLS:CN242137|Orphanet:459074	ordo_malformation_syndrome	dup(7)(q36.3)|7q36.3 microduplication syndrome	http://purl.obolibrary.org/obo/MONDO_0018725		UMLS:CN242137|ORPHA:459074
MONDO:0018724	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	biolink:Disease	mondo	Orphanet:459070|UMLS:CN242161	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0018724		UMLS:CN242161|ORPHA:459070
HGNC:16812	COQ8A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16812		
HGNC:1786	CDKN1C	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1786		
HGNC:1787	CDKN2A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1787		
MONDO:0018721	rare combined vascular malformation	biolink:Disease	mondo	UMLS:CN242069|Orphanet:458837	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018721		UMLS:CN242069|ORPHA:458837
UBERON:0003379	cardiac muscle of right atrium	biolink:AnatomicalEntity	mondo			cardiac muscle tissue of right atrium of heart|cardiac muscle of heart right atrium|cardiac muscle tissue of right atrium|myocardium of right atrium|textus muscularis of myocardium of right cardiac atrium|cardiac muscle of cardiac right atrium|textus muscularis of myocardium of right atrium of heart|right atrium myocardium|cardiac muscle tissue of heart right atrium|right atrium heart muscle|textus muscularis of myocardium of right atrium	http://purl.obolibrary.org/obo/UBERON_0003379	A portion of cardiac muscle tissue that is part of a right atrium [Automatically generated definition].	
ECTO:9001694	antibacterial agent exposure	biolink:OntologyClass	mondo			exposure to antibacterial agent	http://purl.obolibrary.org/obo/ECTO_9001694	An exposure to antibacterial agent.	
MONDO:0018720	common cystic lymphatic malformation	biolink:Disease	mondo	Orphanet:458833	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018720		ORPHA:458833
HGNC:1785	CDKN1B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1785		
NCBITaxon:163159	Xenopsylla cheopis	organism taxon	mondo	GC_ID:1		oriental rat flea	http://purl.obolibrary.org/obo/NCBITaxon_163159		
ECTO:9001695	nutrient exposure	biolink:OntologyClass	mondo			exposure to nutrient	http://purl.obolibrary.org/obo/ECTO_9001695	An exposure to nutrient.	
MONDO:0006729	discrete subaortic stenosis	biolink:Disease	mondo	EFO:1000901|UMLS:C0012628|MESH:D021922|DOID:5804			http://purl.obolibrary.org/obo/MONDO_0006729	A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the aortic valve, anywhere between the aortic valve and the mitral valve. It is characterized by restricted outflow from the left ventricle into the aorta.	MESH:D021922|DOID:5804|UMLS:C0012628
MONDO:0006749	mixed epithelioid and spindle cell melanoma	biolink:Disease	mondo	NCIT:C66756|ICDO:8770/3|SCTID:254811006|MESH:D018332|EFO:1000925		mixed epithelioid and spindle cell melanoma	http://purl.obolibrary.org/obo/MONDO_0006749	A melanoma characterized by the presence of malignant large epithelioid melanocytes and malignant spindle-shaped melanocytes.	SNOMEDCT:254811006|NCIT:C66756|MESH:D018332
MONDO:0006747	enterotoxemia	biolink:Disease	mondo	EFO:1000922|SCTID:370514003|MESH:D004767|ICD9:799.89|UMLS:C0014371			http://purl.obolibrary.org/obo/MONDO_0006747	Disease caused by the liberation of exotoxins of clostridium perfringens in the intestines of sheep, goats, cattle, foals, and piglets. Type B enterotoxemia in lambs is lamb dysentery; type C enterotoxemia in mature sheep produces 'struck', and in calves, lambs and piglets it produces hemorrhagic enterotoxemia; type D enterotoxemia in sheep and goats is pulpy-kidney disease or overeating disease.	MESH:D004767|UMLS:C0014371|SNOMEDCT:370514003
MONDO:0006748	epilepsia partialis continua	biolink:Disease	mondo	ICD9:345.7|MedDRA:10015034|MESH:D017036|ICD9:345.70|COHD:374023|SCTID:241006|EFO:1000924			http://purl.obolibrary.org/obo/MONDO_0006748	A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. electroencephalography demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the cerebral cortex or from subcortical structures (e.g., brain stem; basal ganglia). This condition is associated with Russian Spring and Summer encephalitis (see encephalitis, tick borne); Rasmussen syndrome (see encephalitis); multiple sclerosis; diabetes mellitus; brain neoplasms; and cerebrovascular disorders. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319)	MESH:D017036|SNOMEDCT:241006
MONDO:0006745	endometrioid stromal sarcoma	biolink:Disease	mondo	ICD10:C54.1|MESH:D018203|DOID:4226|NCIT:C8973|ICDO:8930/3|Orphanet:213711|SCTID:699356008|EFO:1000919|UMLS:C2239246|GARD:0006339|ONCOTREE:ESS|MedDRA:10057649|MedDRA:10048397|UMLS:C0206630	ordo_disease|gard_rare	endometrial stromal sarcomas|stromal sarcoma of the corpus uteri|undifferentiated endometrial sarcoma|endometrioid stromal sarcoma|stromal sarcoma, endometrial|endometrial stromal sarcoma|endometrial stromal sarcoma, high grade|stromal sarcoma, endometrial, malignant|sarcomas, endometrial stromal|stromal sarcomas, endometrial|ess	http://purl.obolibrary.org/obo/MONDO_0006745	A malignant mesenchymal neoplasm that affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma.	UMLS:C2239246|DOID:4226|ORPHA:213711|UMLS:C0206630|SNOMEDCT:699356008|NCIT:C8973|MESH:D018203|MEDDRA:10057649
CHEBI:22314	alkali metal atom	biolink:ChemicalSubstance	mondo			alkali metal|Alkalimetall|metaux alcalins|alkali metals|Alkalimetalle|metales alcalinos|metal alcalino|metal alcalin	http://purl.obolibrary.org/obo/CHEBI_22314		
MONDO:0006746	endomyocardial fibrosis	biolink:Disease	mondo	EFO:1000921|GARD:0006340|COHD:439399|ICD9:425.0|NCIT:C34585|MedDRA:10014800|MESH:D004719|DOID:12932	gard_rare	African endomyocardial fibrosis|obscure African cardiomyopathy|endomyocardial sclerosis	http://purl.obolibrary.org/obo/MONDO_0006746	A disease characterized by fibrotic thickening of the endocardium, particularly the right and/or left inflow tracts. The disease often involves the atrioventricular valves, leading to valvular regurgitaion. It most commonly occurs in children living within 15 degrees of the equator.	MESH:D004719|NCIT:C34585|DOID:12932
CHEBI:22315	alkaloid	biolink:ChemicalSubstance	mondo			alkaloids|Alkaloide|alcaloides|Alkaloid|alcaloide	http://purl.obolibrary.org/obo/CHEBI_22315	Any of the naturally occurring, basic nitrogen compounds (mostly heterocyclic) occurring mostly in the plant kingdom, but also found in bacteria, fungi, and animals. By extension, certain neutral compounds biogenetically related to basic alkaloids are also classed as alkaloids. Amino acids, peptides, proteins, nucleotides, nucleic acids, amino sugars and antibiotics are not normally regarded as alkaloids. Compounds in which the nitrogen is  exocyclic (dopamine, mescaline, serotonin, etc.) are usually classed as amines rather than alkaloids.	
MONDO:0006743	endocrine tuberculosis	biolink:Disease	mondo	UMLS:C0041310|MESH:D014383|EFO:1000917			http://purl.obolibrary.org/obo/MONDO_0006743	Infection of the endocrine glands with species of mycobacterium, most often mycobacterium tuberculosis.	MESH:D014383|UMLS:C0041310
CHEBI:22313	alkaline earth metal atom	biolink:ChemicalSubstance	mondo			metal alcalino-terreux|Erdalkalimetall|alkaline-earth metals|metaux alcalino-terreux|alkaline-earth metal|metales alcalinoterreos|alkaline earth metal|alkaline earth metals|metal alcalinoterreo|Erdalkalimetalle	http://purl.obolibrary.org/obo/CHEBI_22313		
MONDO:0006744	endolymphatic hydrops	biolink:Disease	mondo	DOID:9848|UMLS:C0206586|MedDRA:10049934|SCTID:27621000119100|MESH:D018159|EFO:1000918|ICD10:H81.0|ICD9:386.8		labyrinthine hydrops	http://purl.obolibrary.org/obo/MONDO_0006744	An accumulation of endolymph in the inner ear (labyrinth) leading to buildup of pressure and distortion of intralabyrinthine structures, such as cochlea and semicircular canals. It is characterized by sensorineural hearing loss; tinnitus; and sometimes vertigo.	DOID:9848|SNOMEDCT:27621000119100|UMLS:C0206586|MESH:D018159
MONDO:0006741	encephalomalacia	biolink:Disease	mondo	UMLS:C0014068|MedDRA:10051818|SCTID:58762006|NCIT:C98920|DOID:2034|EFO:1000915|MESH:D004678			http://purl.obolibrary.org/obo/MONDO_0006741	Localized atrophy of the brain parenchyma due to aging, hemorrhage, infarct, or inflammation.	UMLS:C0014068|DOID:2034|SNOMEDCT:58762006|NCIT:C98920|MESH:D004678
MONDO:0006742	endemic goiter	biolink:Disease	mondo	DOID:13198|ICD10:E01.2|SCTID:56805008|ICD10:E01.0|NCIT:C35023|EFO:1000916|ICD9:240.0|MedDRA:10068848|MESH:D006043		iodine-deficiency-related endemic goitre|simple goitre|simple goiter	http://purl.obolibrary.org/obo/MONDO_0006742	Thyroid gland enlargement caused by inadequate dietary iodine intake. It occurs in areas in which the soil lacks iodine compounds or there is low seafood consumption.	NCIT:C35023|DOID:13198|MESH:D006043|SNOMEDCT:56805008
MONDO:0006740	empty sella syndrome	biolink:Disease	mondo	SCTID:237722004|MESH:D004652|DOID:3642|EFO:1000914|NCIT:C84686|UMLS:C0014008|ICD9:253.8|GARD:0006331|MedDRA:10014567	gard_rare	empty sella syndrome|empty sella turcica|empty sella	http://purl.obolibrary.org/obo/MONDO_0006740	Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten. The secondary form occurs when the pituitary gland is damaged due to injury, a tumor, surgery or radiation therapy. Some people with ESS have no symptoms. People with secondary ESS may have symptoms of decreased pituitary function such as absence of menstruation, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Treatment focuses on the symptoms present in each person.	UMLS:C0014008|SNOMEDCT:237722004|DOID:3642|MESH:D004652|NCIT:C84686
NCBITaxon:1980459	Bayou orthohantavirus	organism taxon	mondo	GC_ID:1		Bayou virus|Bayou hantavirus	http://purl.obolibrary.org/obo/NCBITaxon_1980459		
MONDO:0018709	X-linked intellectual disability-hypotonia-movement disorder syndrome	biolink:Disease	mondo	Orphanet:457260	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018709		ORPHA:457260
MONDO:0018708	squamous cell carcinoma of the oral tongue	biolink:Disease	mondo	ICD10:C02.1|ICD10:C02.0|Orphanet:457252|ICD10:C02.8|ICD10:C02.4|UMLS:CN242132|ICD10:C02.3|ICD10:C02.2	ordo_disease	oral tongue squamous cell carcinoma|OTSCC	http://purl.obolibrary.org/obo/MONDO_0018708		ORPHA:457252|UMLS:CN242132
NCBITaxon:1980456	Andes orthohantavirus	organism taxon	mondo	GC_ID:1		Andes hantavirus|Andes virus	http://purl.obolibrary.org/obo/NCBITaxon_1980456		
UBERON:0003362	epithelium of endolymphatic duct	biolink:AnatomicalEntity	mondo			endolymphatic duct epithelial tissue|endolymphatic duct epithelium|epithelial tissue of endolymphatic duct	http://purl.obolibrary.org/obo/UBERON_0003362	An epithelium that is part of a endolymphatic duct [Automatically generated definition].	
MONDO:0018716	partially involuting congenital hemangioma	biolink:Disease	mondo	ICD10:D18.0|Orphanet:458785	ordo_disease	PICH	http://purl.obolibrary.org/obo/MONDO_0018716	A clinical subtype of congenital hemangioma that begins as a rapidly involuting congenital hemangioma (RICH) but fails to completely involute and persists as a non-involuting congenital hemangioma (NICH)-like lesion	ORPHA:458785
MONDO:0018715	congenital hemangioma	biolink:Disease	mondo	Orphanet:458775|UMLS:C0235753|NCIT:C3841|SCTID:32361000119104	ordo_group_of_disorders	congenital angioma|congenital hemangioma	http://purl.obolibrary.org/obo/MONDO_0018715	A hemangioma present and fully formed at birth. The different types are Rapidly involuting congenital hemangiomas (RICH), Partially involuting congenital hemangioma (PICH) and Non-involuting congenital hemangiomas (NICH).	ORPHA:458775|NCIT:C3841|SNOMEDCT:32361000119104|UMLS:C0235753
UBERON:0003360	epithelium of parotid gland	biolink:AnatomicalEntity	mondo			epithelium of parotid gland|epithelium of parotid|epithelial tissue of parotid gland|parotid gland epithelial tissue|parotid epithelial tissue|parotid epithelium|parotid gland epithelium|parotid gland duct epithelium	http://purl.obolibrary.org/obo/UBERON_0003360	An epithelium that is part of a parotid gland [Automatically generated definition].	
MONDO:0018718	vascular tumor with associated anomalies	biolink:Disease	mondo	Orphanet:458827|UMLS:CN242155	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018718		ORPHA:458827|UMLS:CN242155
NCBITaxon:190765	Ochlerotatus <genus>	organism taxon	mondo	GC_ID:1|PMID:15264635		Ochlerotatus	http://purl.obolibrary.org/obo/NCBITaxon_190765		
MONDO:0018717	mixed cystic lymphatic malformation	biolink:Disease	mondo	Orphanet:458792|ICD10:D18.1	ordo_malformation_syndrome	mixed cystic lymphangioma	http://purl.obolibrary.org/obo/MONDO_0018717		ORPHA:458792
UBERON:0003361	epithelium of sublingual gland	biolink:AnatomicalEntity	mondo			epithelium of ductus sublingualis|epithelial tissue of ductus sublingualis|epithelial tissue of sublingual gland|ductus sublingualis epithelial tissue|sublingual gland duct epithelium|sublingual gland epithelium|epithelium of Rivinus'gland|sublingual duct epithelium|Rivinus'gland epithelium|epithelial tissue of Rivinus'gland|Rivinus'gland epithelial tissue|sublingual gland epithelial tissue|ductus sublingualis epithelium	http://purl.obolibrary.org/obo/UBERON_0003361	An epithelium that is part of a sublingual gland [Automatically generated definition].	
MONDO:0018712	composite hemangioendothelioma	biolink:Disease	mondo	SCTID:403984006|NCIT:C45475|Orphanet:458758|ICD10:D18.0|UMLS:CN242120|UMLS:C1304513	ordo_disease	composite hemangioendothelioma	http://purl.obolibrary.org/obo/MONDO_0018712	An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of spindle, plump, and epithelioid endothelial cells and cellular atypia.	ORPHA:458758|SNOMEDCT:403984006|UMLS:C1304513|UMLS:CN242120|NCIT:C45475
MONDO:0018711	intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome	biolink:Disease	mondo	Orphanet:457365|UMLS:CN242088	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0018711		ORPHA:457365|UMLS:CN242088
MONDO:0018714	primary intralymphatic angioendothelioma	biolink:Disease	mondo	ICDO:9135/1|NCIT:C7526|ICD10:D18.0|Orphanet:458768|UMLS:CN242194	ordo_disease	papillary intralymphatic angioendothelioma|papillary Endovascular angioendothelioma|pila|Dabska tumor|malignant endothelial papillary angioendothelioma	http://purl.obolibrary.org/obo/MONDO_0018714	An intermediate, rarely metastasizing blood vessel neoplasm. It is characterized by the presence of lymphatic-like vascular channels and papillary endothelial proliferation.	ORPHA:458768|UMLS:CN242194|NCIT:C7526
MONDO:0018713	retiform hemangioendothelioma	biolink:Disease	mondo	Orphanet:458763|SCTID:403982005|NCIT:C27511|UMLS:CN242097|ICD10:D18.0|UMLS:C1304512	ordo_disease	retiform hemangioendothelioma|hobnail hemangioendothelioma	http://purl.obolibrary.org/obo/MONDO_0018713	An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of hobnail endothelial cells and formation of arborizing vascular channels.	ORPHA:458763|UMLS:C1304512|SNOMEDCT:403982005|UMLS:CN242097|NCIT:C27511
GO:0070469	respirasome	biolink:OntologyClass	mondo			membrane electron transport chain|respiratory chain	http://purl.obolibrary.org/obo/GO_0070469	The protein complexes that form the electron transport system (the respiratory chain), associated with a cell membrane, usually the plasma membrane (in prokaryotes) or the inner mitochondrial membrane (on eukaryotes). The respiratory chain complexes transfer electrons from an electron donor to an electron acceptor and are associated with a proton pump to create a transmembrane electrochemical gradient.	
MONDO:0018710	megalencephaly-severe kyphoscoliosis-overgrowth syndrome	biolink:Disease	mondo	Orphanet:457359	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0018710		ORPHA:457359
UBERON:0003368	epithelium of hard palate	biolink:AnatomicalEntity	mondo			hard palate epithelial tissue|hard palate epithelium|epithelial tissue of hard palate	http://purl.obolibrary.org/obo/UBERON_0003368	An epithelium that is part of a hard palate [Automatically generated definition].	
UBERON:0003366	epithelium of uterine horn	biolink:AnatomicalEntity	mondo			epithelial tissue of uterine horn|uterine horn epithelium|uterine horn epithelial tissue	http://purl.obolibrary.org/obo/UBERON_0003366	An epithelium that is part of a uterine horn [Automatically generated definition].	
UBERON:0003364	epithelium of right lung	biolink:AnatomicalEntity	mondo			right lung epithelium|right lung epithelial tissue|epithelial tissue of right lung	http://purl.obolibrary.org/obo/UBERON_0003364	An epithelium that is part of a right lung [Automatically generated definition].	
UBERON:0003365	epithelium of left lung	biolink:AnatomicalEntity	mondo			left lung epithelium|epithelial tissue of left lung|left lung epithelial tissue	http://purl.obolibrary.org/obo/UBERON_0003365	An epithelium that is part of a left lung [Automatically generated definition].	
MONDO:0006716	coronary thrombosis	biolink:Disease	mondo	ICD10:I22|ICD10:I21|SCTID:398274000|DOID:11847|MedDRA:10011108|UMLS:C0010072|EFO:1000883|MESH:D003328		coronary vessel thrombotic disease|coronary artery thrombosis|thrombotic disease of coronary vessel	http://purl.obolibrary.org/obo/MONDO_0006716	Coagulation of blood in any of the coronary vessels. The presence of a blood clot (thrombus) often leads to myocardial infarction.	UMLS:C0010072|DOID:11847|MESH:D003328|SNOMEDCT:398274000
MONDO:0006717	cutaneous fibrous histiocytoma	biolink:Disease	mondo	DOID:4418|ONCOTREE:DF|UMLS:C0346049|ICDO:8832/0|NCIT:C6801|EFO:1000885|UMLS:C0002991|SCTID:448015002		fibrous histiocytoma of the skin|benign fibrous cutaneous histiocytoma|fibrous xanthoma of skin|dermatofibroma|DF|benign fibrous histiocytoma of skin|fibrohistiocytic tumor|benign fibrous histiocytoma of the skin|dermatofibroma NOS|dermatofibroma, no ICD-O subtype (morphologic abnormality)|sclerosing angioma of skin|sclerosing angioma (morphologic abnormality)|pleomorphic fibroma|cutaneous fibrous histiocytoma|dermatofibroma, no ICD-O subtype|fibrohistiocytic neoplasm|benign cutaneous fibrous histiocytoma|benign skin fibrous histiocytoma|sclerosing angioma|fibrous histiocytoma of skin	http://purl.obolibrary.org/obo/MONDO_0006717	A benign, intermediate, or malignant mesenchymal neoplasm composed of fibrohistiocytic cells, spindle fibroblastic cells, and histiocytes, in a storiform pattern.	SNOMEDCT:448015002|NCIT:C6801|UMLS:C0346049|UMLS:C0002991|DOID:4418
MONDO:0006714	coronary aneurysm	biolink:Disease	mondo	ICD10:I25.4|COHD:316427|GARD:0006200|HP:0030882|MedDRA:10002348|ICD10:I25.41|SCTID:50570003|EFO:1000881|DOID:3362|ICD9:414.11|UMLS:C0010051|MESH:D003323		aneurysm of coronary vessels|aneurysmal lesion of coronary artery|coronary artery aneurysm|arteriovenous aneurysm of coronary vessels	http://purl.obolibrary.org/obo/MONDO_0006714	Abnormal balloon- or sac-like dilatation in the wall of coronary vessels. Most coronary aneurysms are due to coronary atherosclerosis, and the rest are due to inflammatory diseases, such as kawasaki disease.	UMLS:C0010051|SNOMEDCT:50570003|MESH:D003323|DOID:3362
MONDO:0006715	coronary stenosis	biolink:Disease	mondo	UMLS:C0242231|SCTID:233970002|DOID:4248|EFO:1000882|MESH:D023921|MedDRA:10011089		coronary artery stenosis	http://purl.obolibrary.org/obo/MONDO_0006715	Narrowing of the coronary artery lumen diameter.	MESH:D023921|SNOMEDCT:233970002|UMLS:C0242231|NCIT:C80427|DOID:4248
MONDO:0006712	corneal edema	biolink:Disease	mondo	MedDRA:10011007|EFO:1000879|ICD9:371.20|ICD10:H18.20|COHD:380102|MESH:D015715|DOID:11030|ICD9:371.2|UMLS:C0010037|SCTID:27194006		corneal oedema	http://purl.obolibrary.org/obo/MONDO_0006712	Hazy, swollen cornea.	DOID:11030|SNOMEDCT:27194006|MESH:D015715|NCIT:C50508|UMLS:C0010037
MONDO:0006713	corneal neovascularization	biolink:Disease	mondo	ICD10:H16.4|UMLS:C0085109|SCTID:19161004|ICD10:H16.40|DOID:11382|ICD9:370.60|MESH:D016510|EFO:1000880|ICD9:370.6|COHD:375267|MedDRA:10011031			http://purl.obolibrary.org/obo/MONDO_0006713	New blood vessels originating from the corneal veins and extending from the limbus into the adjacent corneal stroma. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as trachoma, viral interstitial keratitis, microbial keratoconjunctivitis, and the immune response elicited by corneal transplantation.	DOID:11382|MESH:D016510|UMLS:C0085109|SNOMEDCT:19161004
MONDO:0006710	complex partial epilepsy	biolink:Disease	mondo	COHD:4236312|SCTID:407675009|EFO:1000877|UMLS:C0085417|ICD9:345.40|DOID:12382|MESH:D017029		Complex partial epileptic seizure|epilepsy, psychomotor|psychomotor epilepsy	http://purl.obolibrary.org/obo/MONDO_0006710	A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and automatism may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)	MESH:D017029|UMLS:C0085417|DOID:12382|SNOMEDCT:407675009
MONDO:0006711	constrictive pericarditis (disease)	biolink:Disease	mondo	COHD:312334|UMLS:C0031048|MedDRA:10010783|EFO:1000878|HP:0002563|SCTID:85598007|DOID:11481|NCIT:C78246|ICD9:423.2|MESH:D010494		constrictive pericarditis	http://purl.obolibrary.org/obo/MONDO_0006711	A heart disorder in which the pericardial sac becomes thickened and fibrotic, tightening the myocardium and impeding the normal myocardial function.	MESH:D010494|SNOMEDCT:85598007|DOID:11481|NCIT:C78246|UMLS:C0031048
UBERON:0003351	pharyngeal epithelium	biolink:AnatomicalEntity	mondo			pharynx epithelial tissue|pharynx epithelium|epithelium of pharynx|epithelial tissue of pharynx	http://purl.obolibrary.org/obo/UBERON_0003351	An epithelium that is part of a pharynx [Automatically generated definition].	
MONDO:0018705	infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome	biolink:Disease	mondo	UMLS:CN242083|Orphanet:457205	ordo_disease	ANOAC|axonal neuropathy-optic atrophy-cognitive deficit syndrome	http://purl.obolibrary.org/obo/MONDO_0018705		ORPHA:457205|UMLS:CN242083
UBERON:0003352	epithelium of midgut	biolink:AnatomicalEntity	mondo			epithelial tissue of midgut|midgut epithelium|midgut epithelial tissue	http://purl.obolibrary.org/obo/UBERON_0003352	An epithelium that is part of a midgut.	
MONDO:0018704	obsolete actinomycosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018704		
MONDO:0018707	obsolete clear cell sarcoma of kidney	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018707		
MONDO:0018706	syndromic sensorineural deafness due to combined oxidative phosphorylation defect	biolink:Disease	mondo	Orphanet:457223|ICD10:G31.8|UMLS:CN242144	ordo_disease	syndromic sensorineural deafness due to COXPD|syndromic sensorineural hearing loss due to COXPD	http://purl.obolibrary.org/obo/MONDO_0018706		ORPHA:457223|UMLS:CN242144
UBERON:0003350	epithelium of mucosa	biolink:AnatomicalEntity	mondo			lamina epithelialis mucosae|lamina epithelialis mucosa	http://purl.obolibrary.org/obo/UBERON_0003350	A layer of epithelial cells on the surface of the mucosa.	
MONDO:0018701	congenital nemaline myopathy	biolink:Disease	mondo	Orphanet:457074	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018701		ORPHA:457074
MONDO:0018700	obsolete pseudohypoparathyroidism without Albright hereditary osteodystrophy	biolink:Disease	mondo	Orphanet:457062	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018700		ORPHA:457062
UBERON:0015329	respiratory system basement membrane	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015329	A basement membrane of epithelium that is part of a respiratory system.	
MONDO:0018703	isolated splenogonadal fusion	biolink:Disease	mondo	UMLS:CN242095|ICD10:Q89.0|Orphanet:457083	ordo_morphological_anomaly	SGF	http://purl.obolibrary.org/obo/MONDO_0018703		ORPHA:457083|UMLS:CN242095
MONDO:0018702	TAFRO syndrome	biolink:Disease	mondo	Orphanet:457077|ICD10:M35.8|UMLS:CN237773	ordo_disease	thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome|Castleman-Kojima disease	http://purl.obolibrary.org/obo/MONDO_0018702	A clinicopathologic variant of multicentric Castleman's disease characterized by thrombocytopenia, ascites (anasarca), microcytic anemia, myelofibrosis, renal dysfunction, and organomegaly	ORPHA:457077|UMLS:CN237773
UBERON:0003359	epithelium of submandibular gland	biolink:AnatomicalEntity	mondo			submandibular gland epithelial tissue|submandibular gland duct epithelium|submaxillary gland epithelium|submandibular duct epithelium|submandibular gland epithelium|epithelial tissue of submandibular gland	http://purl.obolibrary.org/obo/UBERON_0003359	An epithelium that is part of a submandibular gland [Automatically generated definition].	
UBERON:0003357	epithelium of tongue	biolink:AnatomicalEntity	mondo			epithelial tissue of tongue|tongue epithelium|tongue epithelial tissue|lingual epithelium	http://purl.obolibrary.org/obo/UBERON_0003357	An epithelium that is part of a tongue [Automatically generated definition].	
UBERON:0003358	epithelium of soft palate	biolink:AnatomicalEntity	mondo			soft palate epithelial tissue|soft palate epithelium|epithelial tissue of soft palate	http://purl.obolibrary.org/obo/UBERON_0003358	An epithelium that is part of a soft palate [Automatically generated definition].	
MONDO:0006709	common bile duct neoplasm	biolink:Disease	mondo	UMLS:C0009442|MESH:D003138|SCTID:126857009|EFO:1000876|DOID:4608		neoplasm of common bile duct|common bile duct tumor|tumor of common bile duct|common bile duct neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0006709	Tumor or cancer of the common bile duct including the ampulla of vater and the sphincter of oddi.	UMLS:C0009442|SNOMEDCT:126857009|DOID:4608|MESH:D003138
UBERON:0003353	epithelium of hindgut	biolink:AnatomicalEntity	mondo			epithelial tissue of hindgut|hindgut epithelial tissue|hindgut epithelium	http://purl.obolibrary.org/obo/UBERON_0003353	An epithelium that is part of a hindgut [Automatically generated definition].	
MONDO:0006707		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006707		
UBERON:0003354	epithelium of rectum	biolink:AnatomicalEntity	mondo			rectum epithelial tissue|epithelial tissue of rectum|rectum epithelium|rectal epithelium	http://purl.obolibrary.org/obo/UBERON_0003354	An epithelium that is part of a rectum [Automatically generated definition].	
MONDO:0006708	Desulfovibrionaceae infectious disease	biolink:Disease	mondo	EFO:1000875|MESH:D045824		Bilophila infections|infection, Desulfovibrio|Desulfovibrionaceae caused disease or disorder|infections, Desulfovibrionaceae|Desulfovibrionaceae disease or disorder|infection, Lawsonia|Bilophila infection|Desulfovibrio infection|infection, Desulfovibrionaceae|infections, Lawsonia|Lawsonia infection|infections, Bilophila|Lawsonia infections|commensal Bilophila infection|Desulfovibrionaceae infection|infections, Desulfovibrio|Desulfovibrio infections|infection, Bilophila	http://purl.obolibrary.org/obo/MONDO_0006708	Infections with bacteria of the family Desulfovibrionaceae.	MESH:D045824
MONDO:0006727	diastolic heart failure	biolink:Disease	mondo	ICD10:I50.30|ICD9:428.3|EFO:1000899|DOID:9775|MedDRA:10069211|MESH:D054144|ICD9:428.30|SCTID:418304008|ICD10:I50.3|UMLS:C1135196|COHD:443587			http://purl.obolibrary.org/obo/MONDO_0006727	Heart failure caused by abnormal myocardial relaxation during diastole leading to defective cardiac filling.	SNOMEDCT:418304008|DOID:9775|UMLS:C1135196|MESH:D054144
MONDO:0006728	discitis	biolink:Disease	mondo	UMLS:C0012624|SCTID:2304001|DOID:10986|EFO:1000900|ICD9:722.90|ICD10:M46.4|MESH:D015299		intervertebral disk inflammation|inflammation of intervertebral disk	http://purl.obolibrary.org/obo/MONDO_0006728	Inflammation of an intervertebral disc or disk space which may lead to disk erosion. Until recently, discitis has been defined as a nonbacterial inflammation and has been attributed to aseptic processes (e.g., chemical reaction to an injected substance). However, recent studies provide evidence that infection may be the initial cause, but perhaps not the promoter, of most cases of discitis. Discitis has been diagnosed in patients following discography, myelography, lumbar puncture, paravertebral injection, and obstetrical epidural anesthesia. Discitis following chemonucleolysis (especially with chymopapain) is attributed to chemical reaction by some and to introduction of microorganisms by others.	DOID:10986|MESH:D015299|SNOMEDCT:2304001|UMLS:C0012624
MONDO:0006725	obsolete diabetic angiopathy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006725		
MONDO:0006726	diaphragmatic eventration (disease)	biolink:Disease	mondo	EFO:1000898|SCTID:34168003|MESH:D003965|HP:0009110|DOID:10480|ICD10:Q79.1		diaphragmatic eventration	http://purl.obolibrary.org/obo/MONDO_0006726	A congenital or acquired abnormality characterized by elevation of the hemidiaphragm.	SNOMEDCT:34168003|NCIT:C98912|DOID:10480|MESH:D003965
MONDO:0006723	denture stomatitis	biolink:Disease	mondo	SCTID:69254008|MESH:D013282|ICD9:528.9|DOID:11875|EFO:1000893|UMLS:C0038364|ICD10:K12.1		denture sore mouth	http://purl.obolibrary.org/obo/MONDO_0006723	Inflammation of the mouth due to denture irritation.	DOID:11875|MESH:D013282|UMLS:C0038364|SNOMEDCT:69254008
MONDO:0006724	obsolete desmoplastic small round cell tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006724		
MONDO:0006721	de Quervain disease	biolink:Disease	mondo	SCTID:21794005|ICD9:727.04|ICD10:M65.4|MESH:D053684|DOID:14107|COHD:73300|EFO:1000891|UMLS:C0149870		tenosynovitis, de Quervain's|radial styloid tenosynovitis	http://purl.obolibrary.org/obo/MONDO_0006721	Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to overuse injury or is associated with rheumatoid arthritis.	SNOMEDCT:21794005|UMLS:C0149870|DOID:14107|MESH:D053684
UBERON:0003339	ganglion of central nervous system	biolink:AnatomicalEntity	mondo			neuraxis ganglion|central nervous system ganglion|ganglion of neuraxis	http://purl.obolibrary.org/obo/UBERON_0003339	A ganglion that is part of a central nervous system [Automatically generated definition].	
MONDO:0006722	dental fluorosis	biolink:Disease	mondo	ICD10:K00.3|MedDRA:10016819|NCIT:C85059|UMLS:C0026618|DOID:13711|SCTID:30265004|EFO:1000892|MESH:D009050|ICD9:520.3		mottling of enamel|mottled teeth|fluorosis|intrinsic enamel discolouration of fluorosis	http://purl.obolibrary.org/obo/MONDO_0006722	A condition that results from excessive fluoride ingestion during tooth development, resulting in tooth discoloration ranging from white streaks to brown stains and cracks or pits in the tooth enamel.	MESH:D009050|SNOMEDCT:30265004|UMLS:C0026618|DOID:13711|NCIT:C85059
CHEBI:48901	thiazoles	biolink:ChemicalSubstance	mondo			thiazole	http://purl.obolibrary.org/obo/CHEBI_48901	An azole in which the five-membered heterocyclic aromatic skeleton contains a N atom and one S atom.	
MONDO:0006720	cystic, mucinous, and serous neoplasm	biolink:Disease	mondo	EFO:1000889|MESH:D018297			http://purl.obolibrary.org/obo/MONDO_0006720	Neoplasms containing cyst-like formations or producing mucin or serum.	MESH:D018297
UBERON:0003346	mucosa of rectum	biolink:AnatomicalEntity	mondo			organ mucosa of rectum|rectum mucosa|mucous membrane of rectum|rectum organ mucosa|rectal mucosa|rectum mucosa of organ|rectal mucous membrane|rectum mucous membrane|mucosa of organ of rectum	http://purl.obolibrary.org/obo/UBERON_0003346	A mucosa that is part of a rectum [Automatically generated definition].	
MONDO:0006718	cutaneous syphilis	biolink:Disease	mondo	ICD10:A50.06|MESH:D013591|EFO:1000887		Treponema pallidum skin disease caused by bacterial infection|Treponema pallidum caused skin disease caused by bacterial infection	http://purl.obolibrary.org/obo/MONDO_0006718	Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409)	MESH:D013591
UBERON:0003342	mucosa of anal canal	biolink:AnatomicalEntity	mondo			anatomical anal canal mucosa of organ|anal region mucosa|mucous membrane of anatomical anal canal|organ mucosa of anatomical anal canal|mucosa of anatomical anal canal|anal canal viewed anatomically mucosa of organ|anal region organ mucosa|anal canal mucous membrane|anal canal viewed anatomically mucosa|anal region mucosa of organ|organ mucosa of anal region|anatomical anal canal mucosa|mucous membrane of anal region|mucosa of organ of anal canal|anal canal viewed anatomically organ mucosa|anatomical anal canal mucous membrane|anatomical anal canal organ mucosa|mucosa of organ of anatomical anal canal|mucosa of anal region|anal canal viewed anatomically mucous membrane|anal canal mucosa|mucosa of organ of anal canal viewed anatomically|anal canal organ mucosa|anal region mucous membrane|organ mucosa of anal canal|mucous membrane of anal canal|mucosa of organ of anal region|mucosa of anal canal viewed anatomically|anal mucosa|organ mucosa of anal canal viewed anatomically|anal mucous membrane|mucous membrane of anal canal viewed anatomically|anal canal mucosa of organ	http://purl.obolibrary.org/obo/UBERON_0003342	A mucosa that is part of an anal canal [Automatically generated definition].	
ECTO:9001687	micronutrient exposure	biolink:OntologyClass	mondo			exposure to micronutrient	http://purl.obolibrary.org/obo/ECTO_9001687	An exposure to micronutrient.	
UBERON:0003343	mucosa of oral region	biolink:AnatomicalEntity	mondo			oral opening mucous membrane|mucosa of organ of oral region|oral part of face mucosa|oral region mucous membrane|subdivision of mouth mucosa of organ|oral part of face organ mucosa|mucosa of organ of oral opening|subdivision of mouth mucous membrane|mucous membrane of oral part of face|organ mucosa of oral part of face|subdivision of mouth mucosa|oral part of face mucosa of organ|mucosa of oral opening|mucosa of oral part of face|organ mucosa of oral opening|mucosa of organ of subdivision of mouth|mucous membrane of oral opening|subdivision of mouth organ mucosa|oral opening mucosa|oral opening mucosa of organ|mucosa of organ of oral part of face|mucous membrane of oral region|oral region mucosa|mucosa of subdivision of mouth|oral part of face mucous membrane|organ mucosa of oral region|oral region mucosa of organ|oral opening organ mucosa|organ mucosa of subdivision of mouth|oral region organ mucosa|mucous membrane of subdivision of mouth	http://purl.obolibrary.org/obo/UBERON_0003343	A mucosa that is part of a oral opening [Automatically generated definition].	
MONDO:0006719	obsolete cystic lymphangioma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006719		
GO:0006023	aminoglycan biosynthetic process	biolink:OntologyClass	mondo			aminoglycan anabolism|aminoglycan biosynthesis|aminoglycan synthesis|aminoglycan formation	http://purl.obolibrary.org/obo/GO_0006023	The chemical reactions and pathways resulting in the formation of aminoglycans, any polymer containing amino groups that consists of more than about 10 monosaccharide residues joined to each other by glycosidic linkages.	
GO:0006024	glycosaminoglycan biosynthetic process	biolink:OntologyClass	mondo			glycosaminoglycan formation|glycosaminoglycan biosynthesis|glycosaminoglycan anabolism|glycosaminoglycan synthesis	http://purl.obolibrary.org/obo/GO_0006024	The chemical reactions and pathways resulting in the formation of glycosaminoglycans, any of a group of polysaccharides that contain amino sugars.	
GO:0006022	aminoglycan metabolic process	biolink:OntologyClass	mondo			aminoglycan metabolism	http://purl.obolibrary.org/obo/GO_0006022	The chemical reactions and pathways involving aminoglycans, any polymer containing amino groups that consists of more than about 10 monosaccharide residues joined to each other by glycosidic linkages.	
GO:0045639	positive regulation of myeloid cell differentiation	biolink:OntologyClass	mondo			up-regulation of myeloid cell differentiation|activation of myeloid cell differentiation|upregulation of myeloid cell differentiation|up regulation of myeloid cell differentiation|stimulation of myeloid cell differentiation	http://purl.obolibrary.org/obo/GO_0045639	Any process that activates or increases the frequency, rate or extent of myeloid cell differentiation.	
GO:0045637	regulation of myeloid cell differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0045637	Any process that modulates the frequency, rate or extent of myeloid cell differentiation.	
GO:0045638	negative regulation of myeloid cell differentiation	biolink:OntologyClass	mondo			downregulation of myeloid cell differentiation|down regulation of myeloid cell differentiation|inhibition of myeloid cell differentiation|down-regulation of myeloid cell differentiation	http://purl.obolibrary.org/obo/GO_0045638	Any process that stops, prevents, or reduces the frequency, rate or extent of myeloid cell differentiation.	
GO:0045642	positive regulation of basophil differentiation	biolink:OntologyClass	mondo			up-regulation of basophil differentiation|activation of basophil differentiation|upregulation of basophil differentiation|up regulation of basophil differentiation|stimulation of basophil differentiation	http://purl.obolibrary.org/obo/GO_0045642	Any process that activates or increases the frequency, rate or extent of basophil differentiation.	
GO:0045640	regulation of basophil differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0045640	Any process that modulates the frequency, rate or extent of basophil differentiation.	
GO:0045641	negative regulation of basophil differentiation	biolink:OntologyClass	mondo			down regulation of basophil differentiation|inhibition of basophil differentiation|down-regulation of basophil differentiation|downregulation of basophil differentiation	http://purl.obolibrary.org/obo/GO_0045641	Any process that stops, prevents, or reduces the frequency, rate or extent of basophil differentiation.	
HGNC:16902	BCKDK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16902		
HGNC:16905	KLHL41	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16905		
GO:0045648	positive regulation of erythrocyte differentiation	biolink:OntologyClass	mondo			up regulation of erythrocyte differentiation|activation of erythrocyte differentiation|positive regulation of RBC differentiation|stimulation of erythrocyte differentiation|upregulation of erythrocyte differentiation|positive regulation of red blood cell differentiation|up-regulation of erythrocyte differentiation	http://purl.obolibrary.org/obo/GO_0045648	Any process that activates or increases the frequency, rate or extent of erythrocyte differentiation.	
GO:0045649	regulation of macrophage differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0045649	Any process that modulates the frequency, rate or extent of macrophage differentiation.	
GO:0045646	regulation of erythrocyte differentiation	biolink:OntologyClass	mondo			regulation of red blood cell differentiation|regulation of RBC differentiation	http://purl.obolibrary.org/obo/GO_0045646	Any process that modulates the frequency, rate or extent of erythrocyte differentiation.	
HGNC:16901	SPEG	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16901		
GO:0045647	negative regulation of erythrocyte differentiation	biolink:OntologyClass	mondo			down-regulation of erythrocyte differentiation|negative regulation of RBC differentiation|negative regulation of red blood cell differentiation|down regulation of erythrocyte differentiation|inhibition of erythrocyte differentiation|downregulation of erythrocyte differentiation	http://purl.obolibrary.org/obo/GO_0045647	Any process that stops, prevents, or reduces the frequency, rate or extent of erythrocyte differentiation.	
GO:0006006	glucose metabolic process	biolink:OntologyClass	mondo			cellular glucose metabolic process|glucose metabolism	http://purl.obolibrary.org/obo/GO_0006006	The chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. D-glucose is dextrorotatory and is sometimes known as dextrose; it is an important source of energy for living organisms and is found free as well as combined in homo- and hetero-oligosaccharides and polysaccharides.	
GO:0045655	regulation of monocyte differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0045655	Any process that modulates the frequency, rate or extent of monocyte differentiation.	
GO:0045656	negative regulation of monocyte differentiation	biolink:OntologyClass	mondo			down regulation of monocyte differentiation|inhibition of monocyte differentiation|down-regulation of monocyte differentiation|downregulation of monocyte differentiation	http://purl.obolibrary.org/obo/GO_0045656	Any process that stops, prevents, or reduces the frequency, rate or extent of monocyte differentiation.	
RO:0003001	produced_by	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0003001	a produced_by b iff some process that occurs_in b has_output a.	
GO:0045653	negative regulation of megakaryocyte differentiation	biolink:OntologyClass	mondo			down-regulation of megakaryocyte differentiation|down regulation of megakaryocyte differentiation|inhibition of megakaryocyte differentiation|downregulation of megakaryocyte differentiation	http://purl.obolibrary.org/obo/GO_0045653	Any process that stops, prevents, or reduces the frequency, rate or extent of megakaryocyte differentiation.	
GO:0045654	positive regulation of megakaryocyte differentiation	biolink:OntologyClass	mondo			stimulation of megakaryocyte differentiation|upregulation of megakaryocyte differentiation|up-regulation of megakaryocyte differentiation|up regulation of megakaryocyte differentiation|activation of megakaryocyte differentiation	http://purl.obolibrary.org/obo/GO_0045654	Any process that activates or increases the frequency, rate or extent of megakaryocyte differentiation.	
GO:0045651	positive regulation of macrophage differentiation	biolink:OntologyClass	mondo			upregulation of macrophage differentiation|up regulation of macrophage differentiation|stimulation of macrophage differentiation|up-regulation of macrophage differentiation|activation of macrophage differentiation	http://purl.obolibrary.org/obo/GO_0045651	Any process that activates or increases the frequency, rate or extent of macrophage differentiation.	
GO:0006000	fructose metabolic process	biolink:OntologyClass	mondo			fructose metabolism	http://purl.obolibrary.org/obo/GO_0006000	The chemical reactions and pathways involving fructose, the ketohexose arabino-2-hexulose. Fructose exists in a open chain form or as a ring compound. D-fructose is the sweetest of the sugars and is found free in a large number of fruits and honey.	
GO:0045652	regulation of megakaryocyte differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0045652	Any process that modulates the frequency, rate or extent of megakaryocyte differentiation.	
RO:0003000	produces	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0003000	a produces b if some process that occurs_in a has_output b, where a and b are material entities. Examples: hybridoma cell line produces monoclonal antibody reagent; chondroblast produces avascular GAG-rich matrix.	
GO:0045650	negative regulation of macrophage differentiation	biolink:OntologyClass	mondo			downregulation of macrophage differentiation|down regulation of macrophage differentiation|inhibition of macrophage differentiation|down-regulation of macrophage differentiation	http://purl.obolibrary.org/obo/GO_0045650	Any process that stops, prevents, or reduces the frequency, rate or extent of macrophage differentiation.	
GO:0070613	regulation of protein processing	biolink:OntologyClass	mondo			regulation of protein maturation by peptide bond cleavage	http://purl.obolibrary.org/obo/GO_0070613	Any process that modulates the frequency, rate or extent of protein processing, any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein.	
GO:0045657	positive regulation of monocyte differentiation	biolink:OntologyClass	mondo			upregulation of monocyte differentiation|up regulation of monocyte differentiation|stimulation of monocyte differentiation|up-regulation of monocyte differentiation|activation of monocyte differentiation	http://purl.obolibrary.org/obo/GO_0045657	Any process that activates or increases the frequency, rate or extent of monocyte differentiation.	
NCBITaxon:1980517	Orthonairovirus	organism taxon	mondo	GC_ID:1		Nairovirus|Nairoviruses	http://purl.obolibrary.org/obo/NCBITaxon_1980517		
NCBITaxon:1980519	Crimean-Congo hemorrhagic fever orthonairovirus	organism taxon	mondo	GC_ID:1		Crimean-Congo hemorrhagic virus|Crimean-Congo hemorrhagic fever nairovirus|Crimean-Congo hemorrhagic fever virus|Crimean-Congo haemorrhagic fever virus|CCHFV	http://purl.obolibrary.org/obo/NCBITaxon_1980519		
GO:0045666	positive regulation of neuron differentiation	biolink:OntologyClass	mondo			up-regulation of neuron differentiation|activation of neuron differentiation|upregulation of neuron differentiation|up regulation of neuron differentiation|stimulation of neuron differentiation	http://purl.obolibrary.org/obo/GO_0045666	Any process that activates or increases the frequency, rate or extent of neuron differentiation.	
GO:0045667	regulation of osteoblast differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0045667	Any process that modulates the frequency, rate or extent of osteoblast differentiation.	
GO:0006012	galactose metabolic process	biolink:OntologyClass	mondo			galactose metabolism	http://purl.obolibrary.org/obo/GO_0006012	The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose.	
GO:0043005	neuron projection	biolink:OntologyClass	mondo			neuron protrusion|neurite|neuronal cell projection|neuron process|nerve fiber	http://purl.obolibrary.org/obo/GO_0043005	A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.	
GO:0045664	regulation of neuron differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0045664	Any process that modulates the frequency, rate or extent of neuron differentiation.	
GO:0045665	negative regulation of neuron differentiation	biolink:OntologyClass	mondo			downregulation of neuron differentiation|down regulation of neuron differentiation|inhibition of neuron differentiation|down-regulation of neuron differentiation	http://purl.obolibrary.org/obo/GO_0045665	Any process that stops, prevents, or reduces the frequency, rate or extent of neuron differentiation.	
GO:0045668	negative regulation of osteoblast differentiation	biolink:OntologyClass	mondo			downregulation of osteoblast differentiation|down regulation of osteoblast differentiation|inhibition of osteoblast differentiation|down-regulation of osteoblast differentiation	http://purl.obolibrary.org/obo/GO_0045668	Any process that stops, prevents, or reduces the frequency, rate or extent of osteoblast differentiation.	
GO:0043009	chordate embryonic development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0043009	The process whose specific outcome is the progression of the embryo over time, from zygote formation through a stage including a notochord and neural tube until birth or egg hatching.	
GO:0045669	positive regulation of osteoblast differentiation	biolink:OntologyClass	mondo			up regulation of osteoblast differentiation|stimulation of osteoblast differentiation|up-regulation of osteoblast differentiation|activation of osteoblast differentiation|upregulation of osteoblast differentiation	http://purl.obolibrary.org/obo/GO_0045669	Any process that activates or increases the frequency, rate or extent of osteoblast differentiation.	
GO:0045670	regulation of osteoclast differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0045670	Any process that modulates the frequency, rate or extent of osteoclast differentiation.	
UBERON:0003409	gland of tongue	biolink:AnatomicalEntity	mondo			tongue gland|lingual gland	http://purl.obolibrary.org/obo/UBERON_0003409	Any of the mucous, serous, or mixed glands that empty their secretions onto the surface of the tongue.	
GO:0033605	positive regulation of catecholamine secretion	biolink:OntologyClass	mondo			up-regulation of catecholamine secretion|up regulation of catecholamine secretion|activation of catecholamine secretion|stimulation of catecholamine secretion|upregulation of catecholamine secretion	http://purl.obolibrary.org/obo/GO_0033605	Any process that activates or increases the frequency, rate or extent of the regulated release of a catecholamine.	
GO:0033604	negative regulation of catecholamine secretion	biolink:OntologyClass	mondo			down regulation of catecholamine secretion|inhibition of catecholamine secretion|downregulation of catecholamine secretion|down-regulation of catecholamine secretion	http://purl.obolibrary.org/obo/GO_0033604	Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a catecholamine.	
UBERON:0003408	gland of digestive tract	biolink:AnatomicalEntity	mondo			lower gastrointestinal tract gland|gland of lower gastrointestinal tract|gland of digestive tract|digestive tract gland|gut gland	http://purl.obolibrary.org/obo/UBERON_0003408	A gland that is part of a digestive tract [Automatically generated definition].	
GO:0033603	positive regulation of dopamine secretion	biolink:OntologyClass	mondo			upregulation of dopamine secretion|up regulation of dopamine secretion|stimulation of dopamine secretion|up-regulation of dopamine secretion|activation of dopamine secretion	http://purl.obolibrary.org/obo/GO_0033603	Any process that activates or increases the frequency, rate or extent of the regulated release of dopamine.	
GO:0033602	negative regulation of dopamine secretion	biolink:OntologyClass	mondo			down regulation of dopamine secretion|inhibition of dopamine secretion|down-regulation of dopamine secretion|downregulation of dopamine secretion	http://purl.obolibrary.org/obo/GO_0033602	Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of dopamine.	
UBERON:0003405	lobar bronchus of left lung	biolink:AnatomicalEntity	mondo			secondary bronchus of left lung|left lung secondary bronchus|left lobar bronchus|left lung lobar bronchus	http://purl.obolibrary.org/obo/UBERON_0003405	A lobar bronchus that is part of a left lung [Automatically generated definition].	
GO:0008645	hexose transmembrane transport	biolink:OntologyClass	mondo			hexose transport|low-affinity hexose transport|high-affinity hexose transport|hexose membrane transport	http://purl.obolibrary.org/obo/GO_0008645	The process in which hexose is transported across a membrane. Hexoses are any aldoses with a chain of six carbon atoms in the molecule.	
UBERON:0003406	cartilage of respiratory system	biolink:AnatomicalEntity	mondo			respiratory system cartilage|apparatus respiratorius cartilage|cartilage of apparatus respiratorius	http://purl.obolibrary.org/obo/UBERON_0003406	A cartilage element that is part of a respiratory system [Automatically generated definition].	
GO:0008643	carbohydrate transport	biolink:OntologyClass	mondo			sugar transport	http://purl.obolibrary.org/obo/GO_0008643	The directed movement of carbohydrate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carbohydrates are any of a group of organic compounds based of the general formula Cx(H2O)y.	
GO:0043010	camera-type eye development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0043010	The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field.	
GO:0045671	negative regulation of osteoclast differentiation	biolink:OntologyClass	mondo			downregulation of osteoclast differentiation|down regulation of osteoclast differentiation|inhibition of osteoclast differentiation|down-regulation of osteoclast differentiation	http://purl.obolibrary.org/obo/GO_0045671	Any process that stops, prevents, or reduces the frequency, rate or extent of osteoclast differentiation.	
GO:0045672	positive regulation of osteoclast differentiation	biolink:OntologyClass	mondo			up-regulation of osteoclast differentiation|activation of osteoclast differentiation|upregulation of osteoclast differentiation|up regulation of osteoclast differentiation|stimulation of osteoclast differentiation	http://purl.obolibrary.org/obo/GO_0045672	Any process that activates or increases the frequency, rate or extent of osteoclast differentiation.	
GO:0043011	myeloid dendritic cell differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0043011	The process in which a monocyte acquires the specialized features of a dendritic cell, an immunocompetent cell of the lymphoid and hemopoietic systems and skin.	
UBERON:0003414	mesenchyme of mandible	biolink:AnatomicalEntity	mondo			mesenchyme of bone organ of lower jaw|mesenchyme of ventral mandibular arch bone|bone of ventral mandibular arch mesenchyme|mesenchyme of mandibulla|mandible mesenchyme|mandibulla mesenchyme|ventral mandibular arch bone mesenchyme|ventral mandibular arch bone organ mesenchyme|lower jaw bone mesenchyme|bone organ of lower jaw mesenchyme|mesenchyme of lower jaw bone organ|mesenchyme of bone of ventral mandibular arch|bone of lower jaw mesenchyme|mesenchyme of lower jaw bone|mesenchyme of bone organ of ventral mandibular arch|lower jaw bone organ mesenchyme|mesenchyme of ventral mandibular arch bone organ|mesenchyme of bone of lower jaw|bone organ of ventral mandibular arch mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003414	Mesenchyme that is part of a developing mandible [Automatically generated definition].	
UBERON:0003412	pelvic appendage bud mesenchyme	biolink:AnatomicalEntity	mondo			leg mesenchyme|mesoderm pelvic fin bud|pelvic fin bud mesenchyme|lower limb bud mesenchyme|hindlimb bud mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003412	Mesenchyme that is part of a pelvic appendage bud.	
UBERON:0003413	pectoral appendage bud mesenchyme	biolink:AnatomicalEntity	mondo			wing mesenchyme|arm mesenchyme|forelimb bud mesenchyme|pectoral fin bud mesenchyme|upper limb bud mesenchyme|mesoderm pectoral fin bud	http://purl.obolibrary.org/obo/UBERON_0003413	Mesenchyme that is part of a pectoral appendage bud.	
UBERON:0003410	oropharyngeal gland	biolink:AnatomicalEntity	mondo			oropharynx gland|oral part of pharynx gland|gland of oropharynx|gland of oral part of pharynx	http://purl.obolibrary.org/obo/UBERON_0003410	A gland that is part of a oropharynx [Automatically generated definition].	
HGNC:1706	CD8A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1706		
GO:0055007	cardiac muscle cell differentiation	biolink:OntologyClass	mondo			cardiomyocyte differentiation|heart muscle cell differentiation	http://purl.obolibrary.org/obo/GO_0055007	The process in which a cardiac muscle precursor cell acquires specialized features of a cardiac muscle cell. Cardiac muscle cells are striated muscle cells that are responsible for heart contraction.	
HGNC:1701	CD81	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1701		
GO:0008654	phospholipid biosynthetic process	biolink:OntologyClass	mondo			phospholipid anabolism|phospholipid biosynthesis|phospholipid synthesis|phospholipid formation	http://purl.obolibrary.org/obo/GO_0008654	The chemical reactions and pathways resulting in the formation of phospholipids, any lipid containing phosphoric acid as a mono- or diester.	
GO:0008652	cellular amino acid biosynthetic process	biolink:OntologyClass	mondo			cellular amino acid synthesis|cellular amino acid biosynthesis|cellular amino acid formation|cellular amino acid anabolism|amino acid biosynthetic process	http://purl.obolibrary.org/obo/GO_0008652	The chemical reactions and pathways resulting in the formation of amino acids, organic acids containing one or more amino substituents.	
GO:0045684	positive regulation of epidermis development	biolink:OntologyClass	mondo			up regulation of epidermis development|positive regulation of epidermal development|positive regulation of hypodermis development|activation of epidermis development|stimulation of epidermis development|upregulation of epidermis development|up-regulation of epidermis development	http://purl.obolibrary.org/obo/GO_0045684	Any process that activates or increases the frequency, rate or extent of epidermis development.	
GO:0043020	NADPH oxidase complex	biolink:OntologyClass	mondo			respiratory-burst oxidase|flavocytochrome b558	http://purl.obolibrary.org/obo/GO_0043020	A enzyme complex of which the core is a heterodimer composed of a light (alpha) and heavy (beta) chain, and requires several other water-soluble proteins of cytosolic origin for activity. Functions in superoxide generation by the NADPH-dependent reduction of O2.	
GO:0045682	regulation of epidermis development	biolink:OntologyClass	mondo			regulation of hypodermis development|regulation of epidermal development	http://purl.obolibrary.org/obo/GO_0045682	Any process that modulates the frequency, rate or extent of epidermis development.	
CHEBI:22271	aflatoxin	biolink:ChemicalSubstance	mondo			aflatoxins	http://purl.obolibrary.org/obo/CHEBI_22271	Any of a group of related and highly toxic secondary metabolites (mycotoxins) whose main structural feature is a fused coumarin-bis(dihydrofuran) ring system and which are produced by strains of the moulds Aspergillus flavus or A. parasiticus, together with further metabolites of these mycotoxins	
GO:0045683	negative regulation of epidermis development	biolink:OntologyClass	mondo			negative regulation of epidermal development|down-regulation of epidermis development|down regulation of epidermis development|inhibition of epidermis development|negative regulation of hypodermis development|downregulation of epidermis development	http://purl.obolibrary.org/obo/GO_0045683	Any process that stops, prevents, or reduces the frequency, rate or extent of epidermis development.	
GO:0070626	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity	biolink:OntologyClass	mondo			adenylosuccinase activity|adenylosuccinate lyase activity|succino AMP-lyase activity	http://purl.obolibrary.org/obo/GO_0070626	Catalysis of the reaction: (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate = fumarate + 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide.	
UBERON:0003403	skin of forearm	biolink:AnatomicalEntity	mondo			skin of antebrachial region|lower arm skin|lower segment of arm skin|forearm skin|skin of zeugopod of arm|skin of lower arm|skin of lower segment of arm	http://purl.obolibrary.org/obo/UBERON_0003403	A zone of skin that is part of a lower arm [Automatically generated definition].	
UBERON:0003404	lobar bronchus of right lung	biolink:AnatomicalEntity	mondo			secondary bronchus of right lung|right lung lobar bronchus|right lung secondary bronchus|right lobar bronchus	http://purl.obolibrary.org/obo/UBERON_0003404	A lobar bronchus that is part of a right lung [Automatically generated definition].	
CHEBI:48873	cholinergic antagonist	biolink:ChemicalSubstance	mondo			agente anticolinergico|agent anticholinergique|Anticholinergika|acetylcholine receptor antagonist|Anticholinergikum|anticholinergiques|cholinergic-blocking agents|anticholinergics|anticolinergicos|anticholinergic agents|agentes anticolinergicos|acetylcholine antagonists	http://purl.obolibrary.org/obo/CHEBI_48873	Any drug that binds to but does not activate cholinergic receptors, thereby blocking the actions of acetylcholine or cholinergic agonists.	
HGNC:1718	CDC14A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1718		
GO:0043030	regulation of macrophage activation	biolink:OntologyClass	mondo			regulation of macrophage polarization	http://purl.obolibrary.org/obo/GO_0043030	Any process that modulates the frequency or rate of macrophage activation.	
HGNC:1713	CDAN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1713		
GO:0043032	positive regulation of macrophage activation	biolink:OntologyClass	mondo			up-regulation of macrophage activation|up regulation of macrophage activation|activation of macrophage activation|positive regulation of macrophage polarization|stimulation of macrophage activation|upregulation of macrophage activation	http://purl.obolibrary.org/obo/GO_0043032	Any process that stimulates, induces or increases the rate of macrophage activation.	
GO:0043031	negative regulation of macrophage activation	biolink:OntologyClass	mondo			inhibition of macrophage activation|downregulation of macrophage activation|negative regulation of macrophage polarization|down-regulation of macrophage activation|down regulation of macrophage activation	http://purl.obolibrary.org/obo/GO_0043031	Any process that stops, prevents, or reduces the frequency, rate or extent of macrophage activation.	
CHEBI:36885	20-oxo steroid	biolink:ChemicalSubstance	mondo			20-oxo steroids	http://purl.obolibrary.org/obo/CHEBI_36885	An oxo steroid carrying an oxo group at position 20.	
GO:0043043	peptide biosynthetic process	biolink:OntologyClass	mondo			peptide synthesis|peptide formation|peptide biosynthesis|peptide anabolism	http://purl.obolibrary.org/obo/GO_0043043	The chemical reactions and pathways resulting in the formation of peptides, compounds of 2 or more (but usually less than 100) amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. This may include the translation of a precursor protein and its subsequent processing into a functional peptide.	
GO:0055025	positive regulation of cardiac muscle tissue development	biolink:OntologyClass	mondo			up regulation of cardiac muscle development|stimulation of cardiac muscle development|up-regulation of cardiac muscle development|activation of cardiac muscle development|positive regulation of heart muscle development|upregulation of cardiac muscle development	http://purl.obolibrary.org/obo/GO_0055025	Any process that activates, maintains or increases the frequency, rate or extent of cardiac muscle tissue development.	
GO:0055026	negative regulation of cardiac muscle tissue development	biolink:OntologyClass	mondo			downregulation of cardiac muscle development|negative regulation of heart muscle development|down regulation of cardiac muscle development|inhibition of cardiac muscle development|down-regulation of cardiac muscle development	http://purl.obolibrary.org/obo/GO_0055026	Any process that stops, prevents, or reduces the frequency, rate or extent of cardiac muscle tissue development.	
CHEBI:46209	L-tyrosinal	biolink:ChemicalSubstance	mondo			(2S)-2-amino-3-(4-hydroxyphenyl)propanal|(2S)-2-amino-3-(p-hydroxyphenyl)propanal|L-tyr aldehyde|TYROSINAL	http://purl.obolibrary.org/obo/CHEBI_46209	An amino aldehyde that is L-tyrosine in which the carboxy group has undergone formal redution to give the corrresponding aldehyde	
GO:0070643	vitamin D 25-hydroxylase activity	biolink:OntologyClass	mondo			vitamin D2 25-hydroxylase activity|calciferol 25-hydroxylase activity|ergocalciferol 25-hydroxylase activity|cholecalciferol 25-hydroxylase activity	http://purl.obolibrary.org/obo/GO_0070643	Catalysis of the hydroxylation of C-25 of any form of vitamin D.	
GO:0070640	vitamin D3 metabolic process	biolink:OntologyClass	mondo			cholecalciferol metabolic process|vitamin D3 metabolism|calciol metabolic process	http://purl.obolibrary.org/obo/GO_0070640	The chemical reactions and pathways involving vitamin D3, (3S,5Z,7E)-9,10-secocholesta-5,7,10(19)-trien-3-ol.	
GO:0055024	regulation of cardiac muscle tissue development	biolink:OntologyClass	mondo			regulation of heart muscle development	http://purl.obolibrary.org/obo/GO_0055024	Any process that modulates the frequency, rate or extent of cardiac muscle tissue development.	
HP:0005368	Abnormality of humoral immunity	biolink:PhenotypicFeature	mondo	UMLS:C3150510		Defective humoral immunity	http://purl.obolibrary.org/obo/HP_0005368	An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system.	
MONDO:0018590	ABeta2M amyloidosis	biolink:Disease	mondo	Orphanet:439246	ordo_group_of_disorders	Beta2-microglobulinic amyloidosis	http://purl.obolibrary.org/obo/MONDO_0018590		ORPHA:439246
MONDO:0018592	cutaneous polyarteritis nodosa	biolink:Disease	mondo	Orphanet:439729|UMLS:CN242143|GARD:0007415|UMLS:C0343190|NCIT:C117295|ICD9:709.8|SCTID:239926000|ICD10:M30.0	ordo_clinical_subtype|gard_rare	cutaneous PAN|cutaneous periarteritis nodosa	http://purl.obolibrary.org/obo/MONDO_0018592	Cutaneous polyarteritis nodosa (CPAN) is a rare limited form of polyarteritis nodosa (PAN), characterized by cutaneous vasculitis and mild and transient extracutaneous manifestations such as mild arthralgia, arthritis,myalgia, and rarely peripheral neuropathy.	SNOMEDCT:239926000|ORPHA:439729|NCIT:C117295|UMLS:CN242143|UMLS:C0343190
MONDO:0018591	ITM2B amyloidosis	biolink:Disease	mondo	UMLS:CN237622|ICD10:I68.0*|ICD9:277.39|Orphanet:439254|SCTID:45639009|ICD10:E85.4+	ordo_disease	familial cerebral amyloid angiopathy|ITM2B-related amyloidosis|ITM2B-related cerebral amyloid angiopathy	http://purl.obolibrary.org/obo/MONDO_0018591		UMLS:CN237622|ORPHA:439254|SNOMEDCT:45639009
MONDO:0043576	endarteritis	biolink:Disease	mondo	EFO:0009084|SCTID:33806008|NCIT:C34581|MESH:D004692|UMLS:C0014100		tunica intima of artery inflammation|endarteritis|Endarteritides|inflammation of tunica intima of artery	http://purl.obolibrary.org/obo/MONDO_0043576	Inflammation of the arterial intima.	SNOMEDCT:33806008|MESH:D004692|UMLS:C0014100|NCIT:C34581
RO:0040035	disease relationship	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0040035	This relation groups  relations between diseases and any other kind of entity.	
ECTO:9001702	macronutrient exposure	biolink:OntologyClass	mondo			exposure to macronutrient	http://purl.obolibrary.org/obo/ECTO_9001702	An exposure to macronutrient.	
ECTO:9001701	reagent exposure	biolink:OntologyClass	mondo			exposure to reagent	http://purl.obolibrary.org/obo/ECTO_9001701	An exposure to reagent.	
HP:0030347	Abnormal circulating androgen level	biolink:PhenotypicFeature	mondo	UMLS:C4072892			http://purl.obolibrary.org/obo/HP_0030347	An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.	
HP:0030348	Increased circulating androgen level	biolink:PhenotypicFeature	mondo	UMLS:C4072893			http://purl.obolibrary.org/obo/HP_0030348	An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.	
MONDO:0018598	neonatal adrenoleukodystrophy	biolink:Disease	mondo	NCIT:C99251|ICD10:E71.511|Orphanet:44|SCTID:238061001|UMLS:C0282525|ICD10:E71.3|GARD:0000559	gard_rare|ordo_disease	NALD|adrenoleukodystrophy autosomal neonatal form	http://purl.obolibrary.org/obo/MONDO_0018598	Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD).	SNOMEDCT:238061001|UMLS:C0282525|NCIT:C99251|ORPHA:44|MESH:D018901
MONDO:0018597	plastic bronchitis	biolink:Disease	mondo	UMLS:C0264342|SCTID:53926002|Orphanet:439881	ordo_clinical_situation	croupous bronchitis|fibrinous bronchitis|pseudo-membranous bronchitis	http://purl.obolibrary.org/obo/MONDO_0018597	A lymphatic flow disorder that causes severe respiratory issues. In children with plastic bronchitis, lymph fluid builds in the airways and forms rubbery or caulk-like plugs (known as casts). These casts block the airways, making it difficult to breathe.	SNOMEDCT:53926002|UMLS:C0264342|ORPHA:439881
MONDO:0018599	congenital oculomotor nerve palsy	biolink:Disease	mondo	Orphanet:440221|ICD10:Q07.8	ordo_disease	congenital third cranial nerve palsy|congenital CNIII lesion	http://purl.obolibrary.org/obo/MONDO_0018599		ORPHA:440221
MONDO:0018594	secondary polyarteritis nodosa	biolink:Disease	mondo	UMLS:CN237624|ICD10:M30.8|Orphanet:439746	ordo_clinical_subtype	secondary PAN|Scondary PAN|secondary periarteritis nodosa	http://purl.obolibrary.org/obo/MONDO_0018594	Secondary polyarteritis nodosa (PAN) is a rare serious form of PAN characterized by vasculitis in a background of viral infection, primarily with hepatitis B virus (HBV).	UMLS:CN237624|ORPHA:439746
MONDO:0018593	primary polyarteritis nodosa	biolink:Disease	mondo	UMLS:CN237623|ICD10:M30.0|Orphanet:439737	ordo_clinical_subtype	primary periarteritis nodosa|primary PAN	http://purl.obolibrary.org/obo/MONDO_0018593		UMLS:CN237623|ORPHA:439737
HP:0005372	Abnormality of B cell physiology	biolink:PhenotypicFeature	mondo	UMLS:C1849242		Abnormality of B cell physiology|Reduced B cell function	http://purl.obolibrary.org/obo/HP_0005372	An abnormality of the physiological functioning of B cells.	
MONDO:0018596	systemic polyarteritis nodosa	biolink:Disease	mondo	ICD10:M30.0|Orphanet:439762|UMLS:CN242146	ordo_clinical_subtype	systemic periarteritis nodosa|systemic PAN	http://purl.obolibrary.org/obo/MONDO_0018596	Systemic polyarteritis nodosa (PAN) is a chronic systemic necrotizingvasculitis of adults and childrenaffecting small- and medium-sized vessels and characterized by formation of microaneurysms leading to serious generalized disease and multi-organ involvement.	UMLS:CN242146|ORPHA:439762
MONDO:0018595	single-organ polyarteritis nodosa	biolink:Disease	mondo	UMLS:CN242112|ICD10:M30.0|Orphanet:439755	ordo_clinical_subtype	single-organ PAN|single-organ periarteritis nodosa	http://purl.obolibrary.org/obo/MONDO_0018595	Single-organ polyarteritis nodosa (PAN) is a rare, often mild form of PAN characterized by limited disease without generalized manifestations, most often affecting the skin (cutaneous PAN), the brain, eyes, pancreas, testicles, ureter, breasts, or ovaries. Affected patients are often younger than those with systemic PAN and relapses appear to be more common.	UMLS:CN242112|ORPHA:439755
MONDO:0018581	progressive encephalomyelitis with rigidity and myoclonus	biolink:Disease	mondo	ICD10:G04.8|UMLS:C1861457|GARD:0013110|Orphanet:438266	ordo_clinical_subtype|gard_rare	perm	http://purl.obolibrary.org/obo/MONDO_0018581		UMLS:C1861457|ORPHA:438266
MONDO:0018580	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	biolink:Disease	mondo	Orphanet:438213|UMLS:CN237608|ICD10:G40.4	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018580		UMLS:CN237608|ORPHA:438213
MONDO:0006598	phototoxic dermatitis	biolink:Disease	mondo	MESH:D017484|SCTID:53597009|UMLS:C0162830|EFO:1000753|DOID:4407|Wikipedia:Photodermatitis|NCIT:C4816		Photodermatitis|photosensitive dermatitis|photosensitivity reaction|Photosensitisation reaction|photosensitiveness	http://purl.obolibrary.org/obo/MONDO_0006598	Dermatitis caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight.	NCIT:C4816|DOID:4407|UMLS:C0162830|SNOMEDCT:53597009|MESH:D017484
MONDO:0006599	physical urticaria	biolink:Disease	mondo	DOID:0060220|EFO:1000754|SCTID:402601007			http://purl.obolibrary.org/obo/MONDO_0006599	A distinct subgroup of the urticaria that are induced by an exogenous physical stimulus rather than occurring spontaneously.	DOID:0060220|SNOMEDCT:402601007
MONDO:0006596	photoallergic dermatitis	biolink:Disease	mondo	ICD9:692.72|DOID:3818|EFO:1000751|UMLS:C0162824|MESH:D017454|Wikipedia:Photodermatitis|SCTID:111209006		photoallergic contact dermatitis|photoallergic eczema	http://purl.obolibrary.org/obo/MONDO_0006596	A delayed hypersensitivity involving the reaction between sunlight or other radiant energy source and a chemical substance to which the individual has been previously exposed and sensitized. It manifests as a papulovesicular, eczematous, or exudative dermatitis occurring chiefly on the light-exposed areas of the skin.	UMLS:C0162824|SNOMEDCT:111209006|DOID:3818|MESH:D017454
MONDO:0043589	femoral neck fracture	biolink:Disease	mondo	SCTID:5913000|EFO:1001792|MESH:D005265		fracture of neck of femur|femur neck fracture|nof - fracture of neck of femur|neck of femur bone fracture|femur neck fractures|fracture of hip|femoral neck fracture|bone fracture of neck of femur	http://purl.obolibrary.org/obo/MONDO_0043589	Fractures of the short, constricted portion of the thigh bone between the femur head and the trochanters. It excludes intertrochanteric fractures which are HIP FRACTURES.	SNOMEDCT:5913000|MESH:D005265
MONDO:0006597	photosensitivity disease	biolink:Disease	mondo	EFO:1000752|MESH:D010787|UMLS:C0031762|DOID:3159|SCTID:22649008		disorder, photosensitivity|photosensitization|photodermatosis|photodermatitis|photodermatitides|disorders, photosensitivity|photosensitivity disorder	http://purl.obolibrary.org/obo/MONDO_0006597	Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy.	UMLS:C0031762|DOID:3159|SNOMEDCT:22649008|MESH:D010787
MONDO:0006594	pemphigus	biolink:Disease	mondo	MESH:D010392|DOID:9182|COHD:135338|ICD10:L10.9|SCTID:65172003|ICD9:694.4|UMLS:C0030807|EFO:1000749|ICD10:L10|Wikipedia:Pemphigus|NCIT:C34909|GARD:0007352	gard_rare		http://purl.obolibrary.org/obo/MONDO_0006594	Pemphigus is a group of rare autoimmune diseases that cause blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals).This conditioncan occur at any age, but often strikes people in middle or older age. Studies have shown that some populations may be at greater risk for certain types of pemphigus. For instance, people of Jewish descent and those from India, Southeast Europe, and the Middle East are at greater risk for pemphigus vulargis, while pemphigus foliaceus is more common in North America, Turkey, and South America. Pemphigus is a chronic disease which is best controlled by early diagnosis and treatment.Treatment includes steroids to reduce inflammation,drugs that suppress the immune system responseand antibiotics to treat associated infections. There are four main types of pemphigus: Pemphigus vulgaris Pemphigus foliaceus IgA pemphigus Paraneoplastic pemphigus	UMLS:C0030807|NCIT:C34909|SNOMEDCT:65172003|MESH:D010392|DOID:9182
MONDO:0006595	perinatal jaundice due to hepatocellular damage	biolink:Disease	mondo	UMLS:C0158976|EFO:1000750|SCTID:10877007|COHD:195064|DOID:11452|ICD9:774.4			http://purl.obolibrary.org/obo/MONDO_0006595	Jaundice in perinates due to cellular damange of liver.	UMLS:C0158976|DOID:11452|SNOMEDCT:10877007
MONDO:0006592	parapsoriasis	biolink:Disease	mondo	UMLS:C0030491|COHD:320798|MESH:D010267|NCIT:C3312|Wikipedia:Parapsoriasis|GARD:0007328|SCTID:88233000|ICD10:L41|ICD10:L41.9|EFO:1000747|ICD9:696.2|DOID:9088	gard_rare	digitate dermatosis|parapsoriasis en plaque	http://purl.obolibrary.org/obo/MONDO_0006592	Parapsoriasis describes a group ofskin diseases that can be characterized by scaly patches or slightly elevated papules and/or plaques (red, scaly patches) that have a resemblance to psoriasis. However, this description includes several inflammatory cutaneous diseases that are unrelated with respect to pathogenesis, histopathology, and response to treatment. Because of the variation in clinical presentation and a lack of a specific diagnostic finding on histopathology, a uniformly accepted definition of parapsoriasis remains lacking. There are 2 general forms: a small plaque type, which is usually benign, and a large plaque type, which is a precursor of cutaneous T-cell lymphoma (CTCL).Treatment of small plaque parapsoriasis is unnecessary but can include emollients, topical tar preparations or corticosteroids, and/or phototherapy. Treatment of large plaque parapsoriasis is phototherapy or topical corticosteroids.	UMLS:C0030491|SNOMEDCT:88233000|MESH:D010267|DOID:9088|NCIT:C3312
MONDO:0006593	pelvic lipomatosis	biolink:Disease	mondo	GARD:0007350|MESH:C535549|EFO:1000748|UMLS:C0406608|DOID:3927|NCIT:C27486	gard_rare	pelvic lipomatosis (morphologic abnormality)|Excess of mature unencapsulated fatty tissue in the pelvis|pelvic lipomatosis	http://purl.obolibrary.org/obo/MONDO_0006593	A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the pelvic region. Clinical presentation includes complaints of back and abdominal pain, urinary frequency, perineal pain and constipation. It predominately affects black males.	UMLS:C0406608|MESH:C535549|DOID:3927|NCIT:C27486
MONDO:0006590	palmoplantar keratosis	biolink:Disease	mondo	DOID:3390|ICD9:757.39|SCTID:706885006|EFO:1000745|NCIT:C34748|GARD:0008167|ICD10:L85.2		keratosis palmaris et plantaris|palmoplantar keratoderma|keratoderma, palmoplantar	http://purl.obolibrary.org/obo/MONDO_0006590	A group of autosomal dominant, autosomal recessive, X-linked inherited or acquired disorders characterized by the thickening of the palms and soles due to hyperkeratosis.	NCIT:C34748|SNOMEDCT:706885006|DOID:3390
GO:0006094	gluconeogenesis	biolink:OntologyClass	mondo			glucose biosynthesis|glucose biosynthetic process	http://purl.obolibrary.org/obo/GO_0006094	The formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol.	
MONDO:0006591	panniculitis	biolink:Disease	mondo	ICD9:729.30|ICD9:729.3|MESH:D015434|Wikipedia:Panniculitis|ICD9:729.39|ICD10:M79.3|COHD:432719|NCIT:C33645|UMLS:C0030326|EFO:1000746|SCTID:22125009|DOID:1526		Subcutaneous tissue|subcutis|inflammation of subcutaneous adipose tissue|Subcutaneous adipose tissue|subcutaneous adipose tissue inflammation	http://purl.obolibrary.org/obo/MONDO_0006591	Inflammation of the subcutaneous adipose tissue.	UMLS:C0030326|SNOMEDCT:22125009|NCIT:C33645|NCIT:C112112|DOID:1526|MESH:D015434
GO:0006090	pyruvate metabolic process	biolink:OntologyClass	mondo			pyruvate dehydrogenase bypass|pyruvate metabolism	http://purl.obolibrary.org/obo/GO_0006090	The chemical reactions and pathways involving pyruvate, 2-oxopropanoate.	
MONDO:0043579	enteritis	biolink:Disease	mondo	UMLS:C0014335|NCIT:C26765|SCTID:64613007|MESH:D004751		enteritis of small intestine|inflammation of small intestine|enteritis|Enteritides|enteritis, inflammatory disorder of small intestine|small intestine inflammation	http://purl.obolibrary.org/obo/MONDO_0043579	Inflammation of the small intestine.	NCIT:C26765|MESH:D004751|UMLS:C0014335|SNOMEDCT:64613007
GO:0006091	generation of precursor metabolites and energy	biolink:OntologyClass	mondo			energy pathways|intermediary metabolism|metabolic energy generation	http://purl.obolibrary.org/obo/GO_0006091	The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances.	
MONDO:0018587	non-recovering obstetric brachial plexus lesion	biolink:Disease	mondo	UMLS:CN237616|ICD10:P14.3|Orphanet:439202	ordo_disease	chronic obstetric brachial plexus palsy|non-recovering OBPI|chronic obstetric brachial plexus injury|non-recovering OBPL	http://purl.obolibrary.org/obo/MONDO_0018587		UMLS:CN237616|ORPHA:439202
MONDO:0018586	zinc-responsive necrolytic acral erythema	biolink:Disease	mondo	UMLS:CN237615|ICD10:L53.8|Orphanet:439196|SCTID:762543009	ordo_clinical_situation	NAE|necrolytic acral erythema	http://purl.obolibrary.org/obo/MONDO_0018586		UMLS:CN237615|SNOMEDCT:762543009|ORPHA:439196
MONDO:0018589	AApoAIV amyloidosis	biolink:Disease	mondo	Orphanet:439232|ICD10:E85.8	ordo_disease	apolipoprotein A-IV amyloidosis	http://purl.obolibrary.org/obo/MONDO_0018589		ORPHA:439232
MONDO:0018588	ALECT2 amyloidosis	biolink:Disease	mondo	ICD10:E85.8|Orphanet:439224	ordo_disease	LECT2 amyloidosis|leukocyte chemotactic factor-2 amyloidosis	http://purl.obolibrary.org/obo/MONDO_0018588	A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands.	ORPHA:439224
MONDO:0018583	human infection by orthopoxvirus	biolink:Disease	mondo	UMLS:CN237612|ICD10:B08.0|Orphanet:438279	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018583		UMLS:CN237612|ORPHA:438279
MONDO:0018582	GCGR-related hyperglucagonemia	biolink:Disease	mondo	Orphanet:438274|UMLS:CN237611|ICD10:E16.3|GARD:0010460	ordo_disease	Mahvash disease|Nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor|Nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumor	http://purl.obolibrary.org/obo/MONDO_0018582		UMLS:CN237611|ORPHA:438274
MONDO:0018585	pediatric arterial ischemic stroke	biolink:Disease	mondo	Orphanet:439175|ICD10:I63.5	ordo_clinical_syndrome	pediatric AIS|childhood arterial ischemic stroke|childhood AIS	http://purl.obolibrary.org/obo/MONDO_0018585		ORPHA:439175
MONDO:0018584	obsolete placental insufficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018584		
MONDO:0018570	hypophosphatasia	biolink:Disease	mondo	GARD:0006734|NCIT:C26798|Orphanet:436|MESH:D007014|SCTID:360792001|ICD10:E83.39|ICD9:277.6|ICD10:E83.3|UMLS:C0020630|DOID:14213|MedDRA:10049933	ordo_disease	childhood hypophosphatasia|phosphoethanol-aminuria|deficiency of alkaline phosphatase (disorder) [ambiguous]|hypophospatasia, childhood|Rathburn disease|phosphoethanolaminuria|deficiency of alkaline phosphatase|hypophosphatasia mild|HPP	http://purl.obolibrary.org/obo/MONDO_0018570	Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia).	MEDDRA:10049933|DOID:14213|ORPHA:436|MESH:D007014|SNOMEDCT:360792001|NCIT:C26798|UMLS:C0020630
GO:0006099	tricarboxylic acid cycle	biolink:OntologyClass	mondo			TCA cycle|Krebs cycle|citric acid cycle	http://purl.obolibrary.org/obo/GO_0006099	A nearly universal metabolic pathway in which the acetyl group of acetyl coenzyme A is effectively oxidized to two CO2 and four pairs of electrons are transferred to coenzymes. The acetyl group combines with oxaloacetate to form citrate, which undergoes successive transformations to isocitrate, 2-oxoglutarate, succinyl-CoA, succinate, fumarate, malate, and oxaloacetate again, thus completing the cycle. In eukaryotes the tricarboxylic acid is confined to the mitochondria. See also glyoxylate cycle.	
GO:0006096	glycolytic process	biolink:OntologyClass	mondo			anaerobic glycolysis|glycolysis|Embden-Meyerhof-Parnas pathway|Embden-Meyerhof pathway|modifed Embden-Meyerhof pathway	http://purl.obolibrary.org/obo/GO_0006096	The chemical reactions and pathways resulting in the breakdown of a carbohydrate into pyruvate, with the concomitant production of a small amount of ATP and the reduction of NAD(P) to NAD(P)H. Glycolysis begins with the metabolism of a carbohydrate to generate products that can enter the pathway and ends with the production of pyruvate. Pyruvate may be converted to acetyl-coenzyme A, ethanol, lactate, or other small molecules.	
MONDO:0018579	disorder of ketone body transport	biolink:Disease	mondo	UMLS:CN237600|Orphanet:438072	ordo_group_of_disorders	disorder of ketone body transport|disorder of keton body transport	http://purl.obolibrary.org/obo/MONDO_0018579		ORPHA:438072|UMLS:CN237600
MONDO:0018576	non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	biolink:Disease	mondo	ICD10:G93.4|Orphanet:436271	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018576		ORPHA:436271
MONDO:0018575	microcephalic primordial dwarfism-insulin resistance syndrome	biolink:Disease	mondo	ICD10:Q87.1|Orphanet:436182|UMLS:CN237592	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0018575		ORPHA:436182|UMLS:CN237592
MONDO:0018578	obsolete hypophosphatemic rickets	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018578		
MONDO:0018577	pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa	biolink:Disease	mondo	Orphanet:436274|ICD10:Q82.8|UMLS:CN237597	ordo_disease	PXE-like syndrome with retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0018577		ORPHA:436274|UMLS:CN237597
MONDO:0018572	severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome	biolink:Disease	mondo	Orphanet:436141|UMLS:CN237585|ICD10:Q87.8	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0018572		ORPHA:436141|UMLS:CN237585
MONDO:0018571	contractures-developmental delay-Pierre Robin syndrome	biolink:Disease	mondo	UMLS:CN237584|ICD10:Q87.0|Orphanet:436003	ordo_malformation_syndrome	5q23 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0018571		ORPHA:436003|UMLS:CN237584
MONDO:0018574	intellectual disability-expressive aphasia-facial dysmorphism syndrome	biolink:Disease	mondo	Orphanet:436151|ICD10:Q87.0|UMLS:CN237587	ordo_disease	intellectual disability-loss of expressive language-facial dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0018574		ORPHA:436151|UMLS:CN237587
MONDO:0018573	intrauterine growth restriction-short stature-early adult-onset diabetes syndrome	biolink:Disease	mondo	UMLS:CN237586|ICD10:Q87.1|Orphanet:436144	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018573		ORPHA:436144|UMLS:CN237586
MONDO:0043523	cadmium poisoning	biolink:Disease	mondo	MESH:D002105|SCTID:3398004		Itai Itai|cadmium Poisonings|Poisonings, cadmium|Itai-Itai|poisoning, cadmium|cadmium poisoning	http://purl.obolibrary.org/obo/MONDO_0043523	Poisoning occurring after exposure to cadmium compounds or fumes. It may cause gastrointestinal syndromes, anemia, or pneumonitis.	SNOMEDCT:3398004|MESH:D002105
GO:0006066	alcohol metabolic process	biolink:OntologyClass	mondo			alcohol metabolism	http://purl.obolibrary.org/obo/GO_0006066	The chemical reactions and pathways involving alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom.	
GO:0006073	cellular glucan metabolic process	biolink:OntologyClass	mondo			cellular glucan metabolism	http://purl.obolibrary.org/obo/GO_0006073	The chemical reactions and pathways involving glucans, polysaccharides consisting only of glucose residues, occurring at the level of an individual cell.	
MONDO:0043519	burn	biolink:Disease	mondo	EFO:1001768|NCIT:C34441|MESH:D002056|SCTID:125666000		burn|Burn|Burn(s)	http://purl.obolibrary.org/obo/MONDO_0043519	A traumatic injury involving interruption of tissue cohesiveness that results from exposure to caustic chemicals, extreme heat, extreme cold or excessive radiation.	MESH:D002056|NCIT:C34441|SNOMEDCT:125666000
GO:0006071	glycerol metabolic process	biolink:OntologyClass	mondo			glycerol metabolism	http://purl.obolibrary.org/obo/GO_0006071	The chemical reactions and pathways involving glycerol, 1,2,3-propanetriol, a sweet, hygroscopic, viscous liquid, widely distributed in nature as a constituent of many lipids.	
HGNC:26291	BBS10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26291		
GO:0033683	nucleotide-excision repair, DNA incision	biolink:OntologyClass	mondo			DNA incision involved in nucleotide-excision repair|nucleic acid cleavage involved in nucleotide-excision repair	http://purl.obolibrary.org/obo/GO_0033683	A process that results in the endonucleolytic cleavage of the damaged strand of DNA. The incision occurs at the junction of single-stranded DNA and double-stranded DNA that is formed when the DNA duplex is unwound.	
GO:0045600	positive regulation of fat cell differentiation	biolink:OntologyClass	mondo			positive regulation of adipocyte differentiation|stimulation of fat cell differentiation|up regulation of fat cell differentiation|positive regulation of adipocyte cell differentiation|up-regulation of fat cell differentiation|activation of fat cell differentiation|upregulation of fat cell differentiation	http://purl.obolibrary.org/obo/GO_0045600	Any process that activates or increases the frequency, rate or extent of adipocyte differentiation.	
MONDO:0043529	carcinoid heart disease	biolink:Disease	mondo	UMLS:C0007093|EFO:1001775|MESH:D002275|SCTID:36222008		carcinoid heart diseases|heart diseases, carcinoid|carcinoid heart disease|heart disease, carcinoid	http://purl.obolibrary.org/obo/MONDO_0043529	Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation.	MESH:D002275|UMLS:C0007093|SNOMEDCT:36222008
GO:0045606	positive regulation of epidermal cell differentiation	biolink:OntologyClass	mondo			stimulation of epidermal cell differentiation|up-regulation of epidermal cell differentiation|activation of epidermal cell differentiation|positive regulation of hypodermal cell differentiation|upregulation of epidermal cell differentiation|up regulation of epidermal cell differentiation	http://purl.obolibrary.org/obo/GO_0045606	Any process that activates or increases the frequency, rate or extent of epidermal cell differentiation.	
GO:0006082	organic acid metabolic process	biolink:OntologyClass	mondo			organic acid metabolism	http://purl.obolibrary.org/obo/GO_0006082	The chemical reactions and pathways involving organic acids, any acidic compound containing carbon in covalent linkage.	
GO:0045604	regulation of epidermal cell differentiation	biolink:OntologyClass	mondo			regulation of hypodermal cell differentiation	http://purl.obolibrary.org/obo/GO_0045604	Any process that modulates the frequency, rate or extent of epidermal cell differentiation.	
GO:0045605	negative regulation of epidermal cell differentiation	biolink:OntologyClass	mondo			downregulation of epidermal cell differentiation|down regulation of epidermal cell differentiation|inhibition of epidermal cell differentiation|down-regulation of epidermal cell differentiation|negative regulation of hypodermal cell differentiation	http://purl.obolibrary.org/obo/GO_0045605	Any process that stops, prevents, or reduces the frequency, rate or extent of epidermal cell differentiation.	
GO:0031012	extracellular matrix	biolink:OntologyClass	mondo			proteinaceous extracellular matrix|matrisome	http://purl.obolibrary.org/obo/GO_0031012	A structure lying external to one or more cells, which provides structural support, biochemical or biomechanical cues for cells or tissues.	
GO:0033674	positive regulation of kinase activity	biolink:OntologyClass	mondo			kinase activator|up-regulation of kinase activity|up regulation of kinase activity|stimulation of kinase activity|upregulation of kinase activity	http://purl.obolibrary.org/obo/GO_0033674	Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule.	
GO:0033673	negative regulation of kinase activity	biolink:OntologyClass	mondo			down regulation of kinase activity|downregulation of kinase activity|inhibition of kinase activity|kinase inhibitor|down-regulation of kinase activity	http://purl.obolibrary.org/obo/GO_0033673	Any process that stops, prevents, or reduces the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule.	
HGNC:14291	NLGN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14291		
HP:0005390	Recurrent opportunistic infections	biolink:PhenotypicFeature	mondo	UMLS:C1832324		Frequent opportunistic infections	http://purl.obolibrary.org/obo/HP_0005390	Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system.	
ENVO:09200000	temperature of environmental material	biolink:OntologyClass	mondo			environmental material temperature	http://purl.obolibrary.org/obo/ENVO_09200000	The temperature of some environmental material.	
ENVO:09200001	temperature of air	biolink:OntologyClass	mondo			air temperature	http://purl.obolibrary.org/obo/ENVO_09200001	The temperature of some air.	
MONDO:0043543	iatrogenic disease	biolink:Disease	mondo	MESH:D007049|ICD9:799.9|UMLS:C0020732|SCTID:12456005		hospital-acquired conditions|iatrogenic disorder|iatrogenic diseases|conditions, hospital-acquired|condition, hospital-acquired|disease, iatrogenic|hospital acquired condition|diseases, iatrogenic|hospital-acquired condition	http://purl.obolibrary.org/obo/MONDO_0043543	Any adverse condition in a patient occurring as the result of treatment by a physician, surgeon, or other health professional, especially infections acquired by a patient during the course of treatment.	UMLS:C0020732|SNOMEDCT:12456005|MESH:D007049
ENVO:09200004	porosity of soil	biolink:OntologyClass	mondo			soil porosity	http://purl.obolibrary.org/obo/ENVO_09200004	The porosity of some soil.	
HGNC:26274	NARS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26274		
HP:0032973	Abnormal bronchoalveolar lavage fluid morphology	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0032973	Abnormal type or counts of nucleated immune cells and acellular components in bronchoalveolar lavage (BAL) fluid. BAL us performed with a fiberoptic bronchoscope in the wedged position within a selected bronchopulmonary segment. BAL is commonly used to inform the differential diagnosis of interstitial lung disease or to monitor therapeutic interventions.	
MONDO:0043544	nosocomial infection	biolink:Disease	mondo	SCTID:19168005|NCIT:C115164|UMLS:C0205721|MESH:D003428|EFO:1001299		Cross infections|nosocomial infections|health care associated infections|infections, hospital|hospital infection|infections, Cross|Healthcare associated infection|associated infections, Healthcare|associated infection, Healthcare|nosocomial infection|infection, Cross|Healthcare-associated infection|infection, nosocomial|Healthcare associated infections|nosocomial infectious disease|hospital infections|infections, Healthcare associated|infections, nosocomial|health care associated infection|hospital-acquired infection|HAI|infection, Healthcare associated|hospital-onset infection|infection, hospital	http://purl.obolibrary.org/obo/MONDO_0043544	An infection acquired in a hospital or other healthcare setting.	NCIT:C115164|SNOMEDCT:19168005|UMLS:C0205721|MESH:D003428
ENVO:09200008	composition of soil	biolink:OntologyClass	mondo			soil composition	http://purl.obolibrary.org/obo/ENVO_09200008	The composition of some soil.	
ENVO:09200009	structure of soil	biolink:OntologyClass	mondo			soil structure	http://purl.obolibrary.org/obo/ENVO_09200009	The structure of some soil.	
MONDO:0043541	viral conjunctivitis	biolink:Disease	mondo	NCIT:C34509|UMLS:C0009774|MESH:D003236|SCTID:45261009		Viruses conjunctivitis (disease)|viral Conjunctivitides|viral conjunctivitis|Viruses caused conjunctivitis (disease)|Conjunctivitides, viral	http://purl.obolibrary.org/obo/MONDO_0043541	Conjunctivitis resulting from viral infection.	MESH:D003236|SNOMEDCT:45261009|NCIT:C34509|UMLS:C0009774
GO:0045619	regulation of lymphocyte differentiation	biolink:OntologyClass	mondo			regulation of lymphocyte development	http://purl.obolibrary.org/obo/GO_0045619	Any process that modulates the frequency, rate or extent of lymphocyte differentiation.	
GO:0045617	negative regulation of keratinocyte differentiation	biolink:OntologyClass	mondo			downregulation of keratinocyte differentiation|down regulation of keratinocyte differentiation|inhibition of keratinocyte differentiation|down-regulation of keratinocyte differentiation	http://purl.obolibrary.org/obo/GO_0045617	Any process that stops, prevents, or reduces the frequency, rate or extent of keratinocyte differentiation.	
GO:0045618	positive regulation of keratinocyte differentiation	biolink:OntologyClass	mondo			up regulation of keratinocyte differentiation|stimulation of keratinocyte differentiation|up-regulation of keratinocyte differentiation|activation of keratinocyte differentiation|upregulation of keratinocyte differentiation	http://purl.obolibrary.org/obo/GO_0045618	Any process that activates or increases the frequency, rate or extent of keratinocyte differentiation.	
GO:0045616	regulation of keratinocyte differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0045616	Any process that modulates the frequency, rate or extent of keratinocyte differentiation.	
HGNC:26270	PIEZO2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26270		
MONDO:0043537	cluster headache syndrome	biolink:Disease	mondo	MESH:D003027|NCIT:C117077|EFO:0008571|SCTID:193031009		neuralgic Migraines|chronic cluster headache|Neuralgias, ciliary|cluster headaches|ciliary Neuralgias|atypical cluster headaches|headache, chronic cluster|cluster headache, episodic|cluster headache, chronic|syndrome, Horton|Horton's syndrome|histamine Cephalgia|headache, atypical cluster|syndromes, cluster headache|horton's neuralgia|syndrome, cluster headache|Horton syndrome|syndrome, Horton's|cluster headache, atypical|vasomotor headache|migraine, neuralgic|headaches, chronic cluster|cluster headache syndromes|histamine Cephalgias|headache, cluster|cluster headaches, episodic|headaches, episodic cluster|atypical cluster headache|Hortons syndrome|ciliary neuralgia|migrainous neuralgia|Cephalgias, histamine|headache syndromes, cluster|headache syndrome, cluster|neuralgic migraine|histamine headache|Cephalgia, histamine|cluster headaches, chronic|chronic cluster headaches|histamine cephalgia|headaches, cluster|episodic cluster headaches|horton's headache|episodic cluster headache|cluster headaches, atypical|headache, episodic cluster|cluster headache|cluster headache syndrome|neuralgia, ciliary|headaches, atypical cluster|Migraines, neuralgic	http://purl.obolibrary.org/obo/MONDO_0043537	A headache disorder that is characterized by periodic severe, unilateral orbital, supraorbital, and/or temporal pain, and is associated with ipsilateral cranial autonomic symptoms.	MESH:D003027|SNOMEDCT:193031009|NCIT:C117077
HP:0005387	Combined immunodeficiency	biolink:PhenotypicFeature	mondo	UMLS:C0494261			http://purl.obolibrary.org/obo/HP_0005387	A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications.	
HGNC:14294	SHANK3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14294		
HGNC:14295	SHANK2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14295		
ENVO:09200011	pressure of air	biolink:OntologyClass	mondo			air pressure	http://purl.obolibrary.org/obo/ENVO_09200011	The pressure of some air.	
ENVO:09200012	temperature of soil	biolink:OntologyClass	mondo			soil temperature	http://purl.obolibrary.org/obo/ENVO_09200012	The temperature of some soil.	
ENVO:09200013	wetness of soil	biolink:OntologyClass	mondo			soil wetness	http://purl.obolibrary.org/obo/ENVO_09200013	The wetness of some soil.	
ENVO:09200014	temperature of water	biolink:OntologyClass	mondo			water temperature	http://purl.obolibrary.org/obo/ENVO_09200014	The temperature of some water.	
ENVO:09200017	composition of water	biolink:OntologyClass	mondo			water composition	http://purl.obolibrary.org/obo/ENVO_09200017	The composition of some water.	
GO:0045620	negative regulation of lymphocyte differentiation	biolink:OntologyClass	mondo			inhibition of lymphocyte differentiation|negative regulation of lymphocyte development|down-regulation of lymphocyte differentiation|downregulation of lymphocyte differentiation|down regulation of lymphocyte differentiation	http://purl.obolibrary.org/obo/GO_0045620	Any process that stops, prevents, or reduces the frequency, rate or extent of lymphocyte differentiation.	
MONDO:0043555	infantile diarrhea	biolink:Disease	mondo	SCTID:39963006|MESH:D003968|UMLS:C0473132		infantile diarrheal disease|Diarrheas, infantile|toddler diarrhea|infantile onset diarrheal disease|diarrheal disease of infancy|infantile Diarrheas|infantile diarrhea	http://purl.obolibrary.org/obo/MONDO_0043555	Diarrhea occurring in infants from newborn to 24-months old.	UMLS:C0473132|SNOMEDCT:39963006|MESH:D003968
GO:0045621	positive regulation of lymphocyte differentiation	biolink:OntologyClass	mondo			upregulation of lymphocyte differentiation|positive regulation of lymphocyte development|up regulation of lymphocyte differentiation|stimulation of lymphocyte differentiation|up-regulation of lymphocyte differentiation|activation of lymphocyte differentiation	http://purl.obolibrary.org/obo/GO_0045621	Any process that activates or increases the frequency, rate or extent of lymphocyte differentiation.	
MONDO:0043549	crush syndrome	biolink:Disease	mondo	MESH:D003444|SCTID:23697004		crush syndromes|crush kidney|renal failure following crushing injury|syndrome, crush|syndromes, crush|bywaters' syndrome|acute renal failure due to rhabdomyolysis|ischemic muscular necrosis syndrome|myoglobinuric acute renal failure|crush syndrome|myoglobinuric nephrosis	http://purl.obolibrary.org/obo/MONDO_0043549	A medical condition characterized by major shock and renal failure after a crushing injury to skeletal muscle.	SNOMEDCT:23697004|MESH:D003444
MONDO:0006659	arteriosclerosis obliterans	biolink:Disease	mondo	DOID:5160|UMLS:C0003851|ICD9:440.8|SCTID:361133006|MedDRA:10065418|EFO:1000820|MESH:D001162		arteriosclerosis obliterans (disorder) [ambiguous]	http://purl.obolibrary.org/obo/MONDO_0006659	Common occlusive arterial disease which is caused by atherosclerosis. It is characterized by lesions in the innermost layer (arterial intima) of arteries including the aorta and its branches to the extremities. Risk factors include smoking, hyperlipidemia, and hypertension.	DOID:5160|SNOMEDCT:361133006|MESH:D001162|UMLS:C0003851
MONDO:0006657	apparent mineralocorticoid excess syndrome	biolink:Disease	mondo	DOID:4367|SCTID:237770005|MESH:D043204|EFO:1000817|UMLS:C0342488|ICD9:255.3|NCIT:C123231		syndrome of apparent mineralocorticoid Excess	http://purl.obolibrary.org/obo/MONDO_0006657	An autosomal recessive disorder caused by a deficiency of 11-beta-hydroxysteroid dehydrogenase, which is characterized by hypertension, hypokalemia, low renin, and hypoaldosteronism.	SNOMEDCT:237770005|DOID:4367|UMLS:C0342488|NCIT:C123231|MESH:D043204
MONDO:0006658	arteriolosclerosis	biolink:Disease	mondo	NCIT:C35543|ICD10:I70|EFO:1000819|UMLS:C0878486|DOID:5162|MESH:D050379		arteriolosclerosis (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0006658	The thickening of the wall of the small arteries and arterioles. It is caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy. It results in lumen narrowing and tissue ischemia.	NCIT:C35543|DOID:5162|UMLS:C0878486|MESH:D050379
MONDO:0006655	aortic valve prolapse	biolink:Disease	mondo	DOID:5232|EFO:1000815|UMLS:C0003505|MESH:D001023|MedDRA:10057454			http://purl.obolibrary.org/obo/MONDO_0006655	The downward displacement of the cuspal or pointed end of the trileaflet aortic valve causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ascending aorta back into the left ventricle, leading to aortic regurgitation.	UMLS:C0003505|MESH:D001023|DOID:5232
MONDO:0006656	aortitis	biolink:Disease	mondo	NCIT:C97085|EFO:1000816|ICD10:I77.6|MedDRA:10002921|SCTID:70933002|DOID:519|UMLS:C0003509|MESH:D001025		aorta inflammation|inflammation of aorta	http://purl.obolibrary.org/obo/MONDO_0006656	Inflammation of the aorta. Causes include trauma, infectious disorders, and connective tissue disorders.	DOID:519|SNOMEDCT:70933002|NCIT:C97085|UMLS:C0003509|MESH:D001025
MONDO:0006653	anthracosilicosis	biolink:Disease	mondo	CSP:2596-4484|DOID:10324|MedDRA:10050363|EFO:1000813|MESH:D000874|UMLS:C0003164|NCIT:C34389|SCTID:33548005|ICD10:J60			http://purl.obolibrary.org/obo/MONDO_0006653	Fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath.	MESH:D000874|SNOMEDCT:33548005|DOID:10324|UMLS:C0003164|NCIT:C34389
MONDO:0006654	anthracosis	biolink:Disease	mondo	UMLS:C0003165|DOID:10327|ICD9:500|NCIT:C34390|SCTID:29422001|MESH:D055008|EFO:1000814|ICD10:J60|COHD:252946|MedDRA:10073051		pneumoconiosis from coal dust|black lung|coal workers' lung|melanoedema|coal dust pneumoconiosis|coal workers' pneumoconiosis|coal miner's pneumoconiosis	http://purl.obolibrary.org/obo/MONDO_0006654	A chronic lung disorder characterized by deposition of coal dust in the lung parenchyma leading to the formation of black nodules and emphysema. It occurs in coal miners.	SNOMEDCT:29422001|DOID:10327|UMLS:C0003165|MESH:D055008|NCIT:C34390
MONDO:0006651	anterior uveitis (disease)	biolink:Disease	mondo	MESH:D014606|UMLS:C0042165|SCTID:410692006|NCIT:C35109|ICD10:H20.2|CSP:1114-9593|ICD10:H20.1|MedDRA:10002709|Orphanet:280886|ICD10:H20.0|HP:0012122|GARD:0010941|EFO:1000811|DOID:1407|ICD10:H20.9|ICD10:H20.8	ordo_group_of_disorders	anterior uveitis|iridocyclitis	http://purl.obolibrary.org/obo/MONDO_0006651	Inflammation of the iris and anterior chamber of the eye.	DOID:1407|MEDDRA:10002709|ORPHA:280886|NCIT:C35109|MESH:D014606|UMLS:C0042165|SNOMEDCT:410692006
MONDO:0006652	anterolateral myocardial infarction	biolink:Disease	mondo	DOID:5845|UMLS:C0262564|MedDRA:10068109|EFO:1000812|MESH:D056988		anteroseptal myocardial infarction|myocardial infarctions, anteroseptal|infarction, anterolateral myocardial|infarction, anteroseptal myocardial|myocardial infarction, anterior wall|acute anterior wall myocardial infarction|myocardial infarctions, anterolateral|infarctions, anterolateral myocardial|myocardial infarction, anteroseptal|myocardial infarction, anterolateral|anterolateral myocardial infarction|anterolateral myocardial infarctions|anteroseptal myocardial infarctions|infarctions, anteroseptal myocardial	http://purl.obolibrary.org/obo/MONDO_0006652	Myocardial infarction in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction.	DOID:5845|UMLS:C0262564|MESH:D056988
MONDO:0006650	anterior spinal artery syndrome	biolink:Disease	mondo	DOID:6712|MESH:D020759|SCTID:2972007|UMLS:C0221069|ICD9:433.80|EFO:1000810|MedDRA:10002703		syndromic disease of anterior spinal artery|anterior spinal artery syndromic disease	http://purl.obolibrary.org/obo/MONDO_0006650	Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with atherosclerosis of the aorta and may result from dissection of an aortic aneurysm or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50)	UMLS:C0221069|SNOMEDCT:2972007|MESH:D020759|DOID:6712
MONDO:0018649	cerebral visual impairment	biolink:Disease	mondo	NCIT:C35275|Orphanet:447788|SCTID:413924001|UMLS:CN237707|ICD10:H47.6	ordo_clinical_syndrome	cortical visual impairment|visual cortex disorder	http://purl.obolibrary.org/obo/MONDO_0018649	A vision disorder that results from damage of the part of the cerebral cortex that is involved in the processing of visual information.	SNOMEDCT:413924001|UMLS:CN237707|ORPHA:447788|NCIT:C35275
MONDO:0018646	sclerosing cholangitis (disease)	biolink:Disease	mondo	NCIT:C4828|HP:0030991|UMLS:C0008313|DOID:14268|EFO:0004268|Orphanet:447771|SCTID:235917005|ICD10:K83.0	ordo_group_of_disorders	primary sclerosing cholangitis (PSC)|Primary sclerosing cholangitis|sclerosing cholangitis|Primary sclerosing cholangitis|fibrosing cholangitis	http://purl.obolibrary.org/obo/MONDO_0018646	A chronic, autoimmune inflammatory liver disorder characterized by narrowing and scarring of the lumen of the bile ducts. It is often seen in patients with ulcerative colitis. Signs and symptoms include jaundice, fatigue, and malabsorption. It may lead to cirrhosis and liver failure.	DOID:14268|UMLS:C0008313|ORPHA:447771|NCIT:C4828|SNOMEDCT:235917005
MONDO:0018645	IgG4-related sclerosing cholangitis	biolink:Disease	mondo	SCTID:722870008|Orphanet:447764|UMLS:C4302109|ICD10:K83.0	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018645		UMLS:C4302109|ORPHA:447764|SNOMEDCT:722870008
MONDO:0018648	Keratocystic odontogenic tumor	biolink:Disease	mondo	UMLS:C1708604|Orphanet:447777|SCTID:713277006|ICD10:D16.4|NCIT:C54302|UMLS:CN237705	ordo_disease	odontogenic keratocystoma|KTOC|odontogenic Keratocyst	http://purl.obolibrary.org/obo/MONDO_0018648	An intraosseous odontogenic neoplasm that usually arises from the mandible. It is characterized by the presence of a single or multiple cysts lined with parakeratinized stratified squamous epithelium. The neoplastic lesions may be solitary or multiple. It has the potential for aggressive behavior, local destruction, and recurrence.	UMLS:C1708604|UMLS:CN237705|SNOMEDCT:713277006|ORPHA:447777|NCIT:C54302
MONDO:0018647	secondary sclerosing cholangitis	biolink:Disease	mondo	SCTID:197442005|ICD10:K83.0|Orphanet:447774|UMLS:C0400978	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018647		ORPHA:447774|SNOMEDCT:197442005|UMLS:C0400978
MONDO:0018642	NIK deficiency	biolink:Disease	mondo	ICD10:D81.8|Orphanet:447731	ordo_disease	MAP3K14 non-severe combined immunodeficiency|non-severe combined immunodeficiency caused by mutation in MAP3K14|primary immunodeficiency with multifaceted aberrant lymphoid immunity	http://purl.obolibrary.org/obo/MONDO_0018642	A immunodeficiency disorder caused by loss of function mutation in NIK (MAP3K14).	ORPHA:447731
MONDO:0018641	paroxysmal nocturnal hemoglobinuria	biolink:Disease	mondo	Orphanet:447|OMIMPS:300818|MedDRA:10034042|SCTID:1963002|ICD10:D59.1|GARD:0007337|DOID:0060284|HGNC:8957|NCIT:C61233|UMLS:C0024790|UMLS:C0019050|ICD10:D59.5|HP:0004818|ICD10:D59.6	ordo_disease|gard_rare	Marchiafava-Micheli disease|PNH|paroxysmal hemoglobinuria	http://purl.obolibrary.org/obo/MONDO_0018641	Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events.	UMLS:C0019050|NCIT:C61233|UMLS:C0024790|MESH:D006457|DOID:0060284|MEDDRA:10034042|ORPHA:447|SNOMEDCT:1963002
MONDO:0018644	autosomal dominant complex spastic paraplegia type 9B	biolink:Disease	mondo	Orphanet:447757|ICD10:G11.4|UMLS:CN237702	ordo_clinical_subtype	AD-SPG9B	http://purl.obolibrary.org/obo/MONDO_0018644		UMLS:CN237702|ORPHA:447757
MONDO:0018643	susceptibility to localized juvenile periodontitis	biolink:Disease	mondo	Orphanet:447740|ICD10:D71	ordo_disease|predisposition		http://purl.obolibrary.org/obo/MONDO_0018643		ORPHA:447740
MONDO:0018640	secondary vasculitis	biolink:Disease	mondo	Orphanet:445197	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018640		ORPHA:445197
MONDO:0004009	kidney pelvis sarcomatoid transitional cell carcinoma	biolink:Disease	mondo	NCIT:C6186|UMLS:C1335752|DOID:6844		renal pelvis sarcomatoid transitional cell carcinoma|infiltrating renal pelvis urothelial carcinoma, sarcomatoid variant|sarcomatoid transitional cell carcinoma of the kidney pelvis|sarcomatoid transitional cell carcinoma of kidney pelvis|kidney pelvis sarcomatoid transitional cell carcinoma|sarcomatoid transitional cell carcinoma of renal pelvis|sarcomatoid transitional cell carcinoma of the renal pelvis	http://purl.obolibrary.org/obo/MONDO_0004009	An infiltrating transitional cell carcinoma that arises from the renal pelvis and exhibits sarcomatoid features.	DOID:6844|NCIT:C6186|UMLS:C1335752
MONDO:0004008	flat ductal epithelial atypia	biolink:Disease	mondo	NCIT:C36086|DOID:6841|UMLS:C1333620		ductal intraepithelial neoplasia, grade 1A|flat epithelial atypia|flat ductal epithelial atypia of the breast|FEA|clinging carcinoma|flat ductal epithelial atypia|DIN 1A|flat epithelial atypia of the breast	http://purl.obolibrary.org/obo/MONDO_0004008	A breast lesion characterized by the presence of dilated terminal ductal lobular units in which the epithelial lining has been replaced by a single layer of mildly atypical cells, or there is atypical, monotonous epithelial hyperplasia of three to five layers. This lesion relates to columnar cell change with atypia and columnar cell hyperplasia with atypia.	UMLS:C1333620|DOID:6841|NCIT:C36086
MONDO:0004005	rete ovarii adenoma	biolink:Disease	mondo	NCIT:C40018|DOID:6837|UMLS:C1514905		rete ovarii adenoma|adenoma, rete ovarii, benign	http://purl.obolibrary.org/obo/MONDO_0004005	An adenoma that arises from the rete ovarii. It is composed of elongated tubules. The clinical course is benign.	UMLS:C1514905|NCIT:C40018|DOID:6837
MONDO:0006668	bacterial conjunctivitis	biolink:Disease	mondo	DOID:9700|EFO:1000829|MESH:D003234|ICD10:H10.0|MedDRA:10061784|ICD9:372.03|UMLS:C0009768|SCTID:243321006|NCIT:C53656		Bacteria caused conjunctival disease|purulent conjunctivitis|Bacteria conjunctival disease	http://purl.obolibrary.org/obo/MONDO_0006668	Inflammation of the conjunctiva caused by a variety of bacterial agents.	UMLS:C0009768|MESH:D003234|DOID:9700|SNOMEDCT:243321006|NCIT:C53656
MONDO:0004004	motor nerve neuritis	biolink:Disease	mondo	UMLS:C0235025|DOID:683		motor neuritis	http://purl.obolibrary.org/obo/MONDO_0004004	Inflammation of the peripheral motor nerves.	DOID:683|UMLS:C0235025
MONDO:0006669	bacterial endocarditis (disease)	biolink:Disease	mondo	MedDRA:10004019|MESH:D004697|HP:0006689|SCTID:301183007|UMLS:C0014121|EFO:1000830|NCIT:C128359		bacterial endocarditis|Bacteria endocarditis (disease)|Bacteria caused endocarditis (disease)	http://purl.obolibrary.org/obo/MONDO_0006669	Endocarditis that is caused by an infection with a bacterial agent.	NCIT:C128359|MESH:D004697|UMLS:C0014121|SNOMEDCT:301183007
MONDO:0004007	breast intraductal proliferative lesion	biolink:Disease	mondo	NCIT:C27942|DOID:6839|UMLS:C1334631		ductal intraepithelial neoplasia|DIN|mammary intraepithelial neoplasia, ductal type|intraductal proliferative lesion|intraductal proliferative lesion of the breast	http://purl.obolibrary.org/obo/MONDO_0004007	A group of non-invasive epithelial proliferations that occur in the ductal system of the breast. The vast majority of cases arise in the terminal ductal lobular units. This category includes atypical ductal hyperplasia, usual ductal hyperplasia, flat epithelial atypia, and ductal carcinoma in situ. There is an increased risk for subsequent development of invasive breast carcinoma.	DOID:6839|NCIT:C27942|UMLS:C1334631
MONDO:0006666	atrophy of thyroid	biolink:Disease	mondo	ICD9:246.8|ICD10:E03.4|EFO:1000827|NCIT:C26942|MedDRA:10043693|SCTID:190309006|UMLS:C2981141		thyroid gland atrophy|thyroid atrophy	http://purl.obolibrary.org/obo/MONDO_0006666	Tissue degeneration and diminished size of the thyroid gland.	NCIT:C26942|SNOMEDCT:190309006|UMLS:C2981141
MONDO:0006667	obsolete B- and T-cell mixed leukemia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006667		
MONDO:0004006	rete ovarii cystadenofibroma	biolink:Disease	mondo	NCIT:C40020|UMLS:C1514906|DOID:6838		cystadenofibroma of rete ovarii|rete ovarii cystadenofibroma	http://purl.obolibrary.org/obo/MONDO_0004006	An exceptionally rare cystadenofibroma that arises from the rete ovarii.	DOID:6838|UMLS:C1514906|NCIT:C40020
MONDO:0006664	atrial heart septal defect	biolink:Disease	mondo	DOID:1882|EFO:1000825|SCTID:253366007|MedDRA:10068864|NCIT:C84473|MedDRA:10019308|Orphanet:1478|COHD:4289309|MedDRA:10003664|OMIMPS:108800|UMLS:C0018817|ICD10:Q21.1|MESH:D006344	ordo_morphological_anomaly	atrial septum defect|atrial septal defect|interatrial communication|interatrial septal defect|congenital atrial septal defect|auricular septal defect|interauricular communication|atrioseptal defect|ASD|interauricular septal defect	http://purl.obolibrary.org/obo/MONDO_0006664	Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart.	MESH:D006344|MEDDRA:10003664|UMLS:C2609256|UMLS:C0018817|NCIT:C84473|DOID:1882|MEDDRA:10068864|SNOMEDCT:253366007|ORPHA:1478
MONDO:0004001	compartment syndrome	biolink:Disease	mondo	ICD10:T79.A0|NCIT:C118422|UMLS:C0009492|ICD9:958.90|MESH:D003161|DOID:682|ICD9:958.8|GARD:0006141|SCTID:111245009|COHD:134734	gard_rare	compartmental syndrome|compartment syndrome|compartmental syndrome, NOS	http://purl.obolibrary.org/obo/MONDO_0004001	Elevated pressure in a confined space enclosed by fascia or eschar, which may lead to vascular compromise and subsequent ischemic injury to the tissue within the space.	MESH:D003161|NCIT:C118422|SNOMEDCT:111245009|UMLS:C0009492|DOID:682
MONDO:0006665	chronic atrophic gastritis	biolink:Disease	mondo	ICD10:K29.4|SCTID:84568007|ICD9:535.1|EFO:1000826|COHD:192667|ICD9:535.11|DOID:8929|MedDRA:10003685|ICD9:535.10|NCIT:C7405|MESH:D005757		gastric atrophy|Gastritides, atrophic|atrophic gastritis|atrophic Gastritides	http://purl.obolibrary.org/obo/MONDO_0006665	Atrophic gastritis that is persistent and long-standing.	NCIT:C7405|SNOMEDCT:84568007|MESH:D005757|DOID:8929
MONDO:0004000	childhood pilocytic astrocytoma	biolink:Disease	mondo	UMLS:C1332995|NCIT:C4048|DOID:6812		pediatric pilocytic astrocytoma|pilocytic astrocytoma|pediatric pilocytic astrocytoma|childhood pilocytic astrocytoma|pilocytic astrocytoma of childhood	http://purl.obolibrary.org/obo/MONDO_0004000	A pilocytic astrocytoma that occurs during childhood.	NCIT:C4048|DOID:6812|UMLS:C1332995
MONDO:0006662	aseptic meningitis	biolink:Disease	mondo	UMLS:C0025290|SCTID:301770000|MedDRA:10003458|EFO:1000823|DOID:12157|NCIT:C118299|ICD10:G03.0|MESH:D008582		aseptic meningitis|acute aseptic meningitis	http://purl.obolibrary.org/obo/MONDO_0006662	Inflammation of the membranes surrounding the brain and spinal cord without a bacterial pathogen.	DOID:12157|SNOMEDCT:301770000|NCIT:C118299|UMLS:C0025290|MESH:D008582
MONDO:0004003	obsolete pancreatic solid pseudopapillary carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004003		
MONDO:0006663	asphyxia neonatorum	biolink:Disease	mondo	Orphanet:137577|UMLS:C0004045|EFO:1000824|COHD:439136|DOID:11088|ICD9:768.9|NCIT:C116313|SCTID:28314004|ICD10:P84|GARD:0005857|MESH:D001238	gard_rare	postnatal asphyxia|fetal asphyxia|perinatal asphyxia|hypoxia neonatorum|birth asphyxia|neonatal hypoxic and ischemic brain injury|hypoxic-ischemic encephalopathy|hypoxic and ischemic brain injury in the newborn|asphyxia - birth|hie|Intrapartum asphyxia|asphyxia, in liveborn infant|birth depression|perinatal depression|perinatal hypoxia	http://purl.obolibrary.org/obo/MONDO_0006663	Respiratory failure in the newborn. (Dorland, 27th ed)	SNOMEDCT:28314004|DOID:11088|UMLS:C0004045|ORPHA:137577|MESH:D001238|NCIT:C116313
MONDO:0004002	obsolete pancreatoblastoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004002		
MONDO:0006660	arthus reaction	biolink:Disease	mondo	ICD9:708.8|MedDRA:10003420|EFO:1000821|MESH:D001183|UMLS:C0003907|ICD9:995.21|ICD10:T78.41|SCTID:402413008|DOID:1556|NCIT:C34400		arthus reaction (function)|arthus type urticaria|arthus phenomenon|arthus reaction	http://purl.obolibrary.org/obo/MONDO_0006660	A localized vasculitis resulting from deposition of antibody-antigen complexes.	DOID:1556|SNOMEDCT:402413008|MESH:D001183|UMLS:C0003907|NCIT:C34400
MONDO:0006661	ascorbic acid deficiency	biolink:Disease	mondo	MedDRA:10047623|ICD10:E54|COHD:439787|ICD9:267|EFO:1000822|MESH:D001206|SCTID:76169001			http://purl.obolibrary.org/obo/MONDO_0006661	A condition due to a dietary deficiency of ascorbic acid (vitamin C), characterized by malaise, lethargy, and weakness. As the disease progresses, joints, muscles, and subcutaneous tissues may become the sites of hemorrhage. Ascorbic acid deficiency frequently develops into scurvy in young children fed unsupplemented cow's milk exclusively during their first year. It develops also commonly in chronic alcoholism. (Cecil Textbook of Medicine, 19th ed, p1177)	SNOMEDCT:76169001|MESH:D001206
MONDO:0043606	obsolete pathologic fracture	biolink:Disease	mondo	SCTID:268029009|NCIT:C3047|MESH:D005598		spontaneous fracture|pathologic fractures|fracture, pathological|fractures, pathological|pathological fractures|pathologic fracture|spontaneous fractures|fracture, pathologic|fractures, pathologic|pathological fracture|fracture, spontaneous	http://purl.obolibrary.org/obo/MONDO_0043606	A traumatic break in an area of bone that has been weakened by another disease process.	MESH:D005598|NCIT:C3047|SNOMEDCT:268029009
MONDO:0018639	caudal regression-sirenomelia spectrum	biolink:Disease	mondo	Orphanet:444941	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018639	Caudal regression-sirenomelia spectrum is a group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported.	ORPHA:444941
HP:0007957	Corneal opacity	biolink:PhenotypicFeature	mondo	UMLS:C0521719|MSH:D003318|SNOMEDCT_US:413921009|SNOMEDCT_US:95735008|UMLS:C0010038|SNOMEDCT_US:64634000	hposlim_core	Corneal clouding|Scarring or clouding of the cornea of the eye|Corneal opacities|Reduction of corneal clarity	http://purl.obolibrary.org/obo/HP_0007957	A reduction of corneal clarity.	
MONDO:0018638	pseudohypoaldosteronism	biolink:Disease	mondo	DOID:4479|MESH:D011546|ICD9:255.8|NCIT:C85034|Orphanet:444916|UMLS:C0033805|SCTID:77098009	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018638	An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate.	DOID:4479|SNOMEDCT:77098009|MESH:D011546|NCIT:C85034|UMLS:C0033805|ORPHA:444916
MONDO:0018635	idiopathic phalangeal acro-osteolysis	biolink:Disease	mondo	Orphanet:444316|ICD10:M89.5	ordo_disease	idiopathic phalangeal acroosteolysis	http://purl.obolibrary.org/obo/MONDO_0018635		ORPHA:444316
MONDO:0018634	hereditary amyloidosis	biolink:Disease	mondo	MESH:D028226|Orphanet:444116|GARD:0006611|NCIT:C84555|UMLS:C0206246|SCTID:367601000119103	ordo_group_of_disorders|gard_rare	amyloidosis, Familial|amyloidosis hereditary|hereditary amyloidosis (disease)|familial amyloidosis	http://purl.obolibrary.org/obo/MONDO_0018634	Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants.	UMLS:C0206246|SNOMEDCT:367601000119103|ORPHA:444116|NCIT:C84555|MESH:D028226
MONDO:0018637	familial chylomicronemia syndrome	biolink:Disease	mondo	UMLS:CN231410|DOID:0111417|ICD10:E78.3|Orphanet:444490	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018637		DOID:0111417|ORPHA:444490|UMLS:CN231410
MONDO:0018636	autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome	biolink:Disease	mondo	Orphanet:444463|ICD10:D61.0|UMLS:CN237691	ordo_disease	TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease|tripeptidyl-peptidase II deficiency|Evans syndrome associated with primary immunodeficiency|TPPII deficiency|triangle disease	http://purl.obolibrary.org/obo/MONDO_0018636		UMLS:CN237691|ORPHA:444463
MONDO:0018631	Marie Unna hereditary hypotrichosis	biolink:Disease	mondo	Orphanet:444|GARD:0003390|MESH:C535912|ICD10:Q84.0|UMLS:C2931059	ordo_disease	Marie Unna congenital hypotrichosis|hypotrichosis, Marie Unna type|MUHH	http://purl.obolibrary.org/obo/MONDO_0018631	Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty.	ORPHA:444|MESH:C535912|UMLS:C2931059
MONDO:0018630	hereditary nonpolyposis colon cancer	biolink:Disease	mondo	NCIT:C120083|UMLS:CN237674|Orphanet:443909|OMIMPS:120435|SCTID:315058005	ordo_group_of_disorders|clingen	HNPCC|hereditary nonpolyposis colorectal cancer|colorectal cancer, hereditary nonpolyposis|familial nonpolyposis colon cancer|familial nonpolyposis colorectal cancer|Hereditary nonpolyposis colorectal cancer (HNPCC)|hereditary nonpolyposis colon cancer	http://purl.obolibrary.org/obo/MONDO_0018630	Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age.	UMLS:CN237674|SNOMEDCT:315058005|ORPHA:443909|NCIT:C120083
MONDO:0018633	20q11.2 microdeletion syndrome	biolink:Disease	mondo	ICD10:Q93.5|UMLS:CN237681|Orphanet:444051	ordo_malformation_syndrome	Del(20)(q11.2)|monosomy 20q11	http://purl.obolibrary.org/obo/MONDO_0018633	20q11.2 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported.	UMLS:CN237681|ORPHA:444051
MONDO:0018632	11q22.2q22.3 microdeletion syndrome	biolink:Disease	mondo	UMLS:CN237678|Orphanet:444002|ICD10:Q93.5	ordo_malformation_syndrome	Del(11)(q22.2q22.3)|monosomy 11q22.2-q22.3|monosomy 11q22.2q22.3|11q22.2-q22.3 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0018632		UMLS:CN237678|ORPHA:444002
MONDO:0006639	adrenal cortex carcinoma	biolink:Disease	mondo	MedDRA:10001388|SCTID:255035007|DOID:3948|EFO:1000796|Orphanet:1501|UMLS:C0206686|NCIT:C9325|DOID:660|ICD10:C74.0|ONCOTREE:ACC|GARD:0000558|ICDO:8370/3|HP:0006744|DOID:3959	ordo_disease	adrenal cortical carcinoma (morphologic abnormality)|ACC|adrenocortical carcinoma, NOS|malignant neoplasm of adrenal cortex|carcinoma of adrenal cortex|adrenocortical cancer|cancer of the adrenal cortex|adrenal cortex carcinoma|malignant tumour of adrenal cortex|adrenocortical carcinoma|adrenal cortex cancer|adenocarcinoma, adrenocortical, malignant|adrenal cortical carcinoma|adrenal cortical adenocarcinoma|neoplasm of adrenal cortex|malignant adrenocortical tumor|adrenal cortical tumors|cortical cell carcinoma|carcinoma, adrenocortical, malignant|adrenocortical carcinoma (disease)|carcinoma of the adrenal cortex|adrenal cortex adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0006639	A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival.	SNOMEDCT:255035007|NCIT:C9325|ORPHA:1501|DOID:660|UMLS:C0206686|DOID:3959|DOID:3948|MESH:D018268|MEDDRA:10001388
MONDO:0006637	acute kidney tubular necrosis	biolink:Disease	mondo	DOID:12556|ICD10:N17.0|EFO:1000794|HP:0008682|ICD9:584.5|MedDRA:10023441|SCTID:35455006|NCIT:C34749|MESH:D007683|COHD:444044|UMLS:C0022672		acute renal failure with lesion of tubular necrosis|acute renal failure with tubular necrosis|ATN - acute tubular necrosis|acute tubule necrosis|acute tubular necrosis	http://purl.obolibrary.org/obo/MONDO_0006637	Acute renal failure caused by the cell death of the renal tubules. Causes include nephrotoxins, cytotoxic drugs, and antibiotics.	SNOMEDCT:35455006|NCIT:C34749|MESH:D007683|DOID:12556|UMLS:C0022672
MONDO:0006638	acute retinal necrosis syndrome	biolink:Disease	mondo	MESH:D015882|EFO:1000795|UMLS:C0035319|SCTID:231986000|DOID:3611		acute retinal necrosis	http://purl.obolibrary.org/obo/MONDO_0006638	Mild to fulminant necrotizing vaso-occlusive retinitis associated with a high incidence of retinal detachment and poor vision outcome.	MESH:D015882|SNOMEDCT:231986000|DOID:3611|UMLS:C0035319
MONDO:0006635	Acinetobacter infectious disease	biolink:Disease	mondo	MESH:D000151|EFO:1000792|DOID:3091|UMLS:C0001139		Mimae infections|Acinetobacter infection|Mimae infection|Acinetobacter disease or disorder|Acinetobacter caused disease or disorder|infections, Acinetobacter|infections, Mimae|infection, Acinetobacter|infection, Mimae	http://purl.obolibrary.org/obo/MONDO_0006635	Infections with bacteria of the genus acinetobacter.	UMLS:C0001139|MESH:D000151|DOID:3091
NCBITaxon:1593277	Onygenales incertae sedis	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1593277		
MONDO:0006636	Actinobacillus infectious disease	biolink:Disease	mondo	EFO:1000793|MESH:D000189		Actinobacillus disease or disorder|infections, Actinobacillus|Actinobacillus infection|Actinobacillus caused disease or disorder|infection, Actinobacillus	http://purl.obolibrary.org/obo/MONDO_0006636	Infections with bacteria of the genus actinobacillus.	MESH:D000189
MONDO:0006633	acalculous cholecystitis	biolink:Disease	mondo	UMLS:C0267841|MESH:D042101|NCIT:C35578|DOID:2828|EFO:1000790|SCTID:19968009|MedDRA:10000347|UMLS:C0267842		acute acalculous cholecystitis|acute cholecystitis without calculus|cholecystitis without calculus	http://purl.obolibrary.org/obo/MONDO_0006633	Inflammation of the gallbladder in the absence of gallstones.	MESH:D042101|NCIT:C35578|UMLS:C0267841|UMLS:C0267842|SNOMEDCT:19968009|DOID:2828
MONDO:0006634	pituitary gland acidophil adenoma	biolink:Disease	mondo	EFO:1000791|UMLS:C0001433|NCIT:C6780|MESH:D000239|DOID:5392|ICDO:8280/0		pituitary gland acidophil adenoma|acidophil adenoma|eosinophil adenoma	http://purl.obolibrary.org/obo/MONDO_0006634	An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic dyes.	DOID:5392|UMLS:C0001433|MESH:D000239|NCIT:C6780
MONDO:0006631	osteoarthritis, toe	biolink:Disease	mondo	EFO:1000788			http://purl.obolibrary.org/obo/MONDO_0006631	Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to: - become stiff over time, which can make it difficult and painful to walk – this is called hallux rigidus - become bent, which can lead to painful bunions (bony lumps at the base of your big toe) – this is called hallux valgus. Osteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot. Ankle osteoarthritis is least common and may cause your heel to move to an unusual angle.	
MONDO:0006632	osteoarthritis, hand	biolink:Disease	mondo	EFO:1000789			http://purl.obolibrary.org/obo/MONDO_0006632	Osteoarthritis of the hands usually happens as part of nodal osteoarthritis (a form of osteoarthritis that runs in families). This mainly affects women and often starts in your 40s or 50s, around the menopause (the time when menstruation ends and it’s no longer possible to have children).	
MONDO:0006630	osteoarthritis, spine	biolink:Disease	mondo	SCTID:8847002|MESH:D055013|EFO:1000787			http://purl.obolibrary.org/obo/MONDO_0006630	A degenerative joint disease involving the spine. It is characterized by progressive deterioration of the spinal articular cartilage (cartilage, articular), usually with hardening of the subchondral bone and outgrowth of bone spurs (osteophyte).	SNOMEDCT:8847002|MESH:D055013
MONDO:0018628	HIV-associated cancer	biolink:Disease	mondo	Orphanet:443291|UMLS:CN237671	ordo_clinical_situation	HIV-related cancer	http://purl.obolibrary.org/obo/MONDO_0018628		UMLS:CN237671|ORPHA:443291
ECTO:9001755	antimicrobial drug exposure	biolink:OntologyClass	mondo			exposure to antimicrobial drug	http://purl.obolibrary.org/obo/ECTO_9001755	An exposure to antimicrobial drug.	
MONDO:0018627	ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor	biolink:Disease	mondo	Orphanet:443287|UMLS:CN237670	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018627		UMLS:CN237670|ORPHA:443287
ECTO:9001757	antibacterial drug exposure	biolink:OntologyClass	mondo			exposure to antibacterial drug	http://purl.obolibrary.org/obo/ECTO_9001757	An exposure to antibacterial drug.	
MONDO:0018629	focal stiff limb syndrome	biolink:Disease	mondo	Orphanet:443804|UMLS:CN237672|ICD10:G25.8	ordo_clinical_subtype	focal stiff-person syndrome|Stiff leg syndrome	http://purl.obolibrary.org/obo/MONDO_0018629		ORPHA:443804|UMLS:CN237672
MONDO:0018624	spontaneous intracranial hypotension	biolink:Disease	mondo	Orphanet:443180|UMLS:CN237665|ICD10:G96.0	ordo_disease	spontaneous cerebrospinal fluid leak	http://purl.obolibrary.org/obo/MONDO_0018624		UMLS:CN237665|ORPHA:443180
MONDO:0018623	postpartum psychosis	biolink:Disease	mondo	SCTID:18260003|ICD10:F53|ICD10:F53.1|ICD9:648.44|Orphanet:443173	ordo_disease	puerperal psychosis	http://purl.obolibrary.org/obo/MONDO_0018623	Postpartum psychosis is a rare psychiatric emergency in which symptoms of high mood and racing thoughts (mania), depression, severe confusion, loss of inhibition, paranoia, hallucinations and delusions set in, beginning suddenly in the first two weeks after childbirth. The symptoms vary and can change quickly.	SNOMEDCT:18260003|ORPHA:443173
MONDO:0018626	paratyphoid fever	biolink:Disease	mondo	MESH:D010284|UMLS:C0343377|UMLS:C0343376|ICD9:002.9|UMLS:C0343375|ICD9:002.3|Orphanet:443227|ICD10:A01.4|ICD10:A01.3|ICD10:A01.2|ICD10:A01.1|ICD9:002.2|ICD9:002.1|DOID:3055|UMLS:C0030528|EFO:0007420|SCTID:51254007|NCIT:C34897	ordo_disease	paratyphoid fever C|paratyphoid fever B|paratyphoid fever A|paratyphoid C fever|paratyphoid B fever|paratyphoid A fever|paratyphoid c|paratyphoid b|paratyphoid a|paratyphoid	http://purl.obolibrary.org/obo/MONDO_0018626	A condition resembling typhoid fever that is caused by infection by Salmonella enterica serovar Parathyphi.	UMLS:C0030528|UMLS:C0343375|UMLS:C0343376|UMLS:C0343377|DOID:3055|NCIT:C34897|MESH:D010284|SNOMEDCT:51254007|ORPHA:443227
MONDO:0018625	classic stiff person syndrome	biolink:Disease	mondo	Orphanet:443192|UMLS:CN237666|ICD10:G25.8	ordo_clinical_subtype	classic SPS	http://purl.obolibrary.org/obo/MONDO_0018625		UMLS:CN237666|ORPHA:443192
NCBITaxon:33634	Stramenopiles	organism taxon	mondo	GC_ID:1		Chromophyta|Heterokonta|heterokonts|Straminipila	http://purl.obolibrary.org/obo/NCBITaxon_33634		
MONDO:0018620	hypothalamic adipsic hypernatraemia syndrome	biolink:Disease	mondo	Orphanet:443101|UMLS:CN237660|ICD10:E23.3	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018620		UMLS:CN237660|ORPHA:443101
HGNC:14376	ACP4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14376		
MONDO:0018622	obsolete nut midline carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018622		
HGNC:14377	NHP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14377		
MONDO:0018621	lymphoplasmacytic lymphoma without IgM production	biolink:Disease	mondo	Orphanet:443159|ICD10:C83.0	ordo_disease	lymphoplasmacytic lymphoma without Immunoglobulin M production	http://purl.obolibrary.org/obo/MONDO_0018621		ORPHA:443159
HGNC:14378	NOP10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14378		
NCBITaxon:33630	Alveolata	organism taxon	mondo	GC_ID:1		alveolates	http://purl.obolibrary.org/obo/NCBITaxon_33630		
ECTO:9001751	antiprotozoal drug exposure	biolink:OntologyClass	mondo			exposure to antiprotozoal drug	http://purl.obolibrary.org/obo/ECTO_9001751	An exposure to antiprotozoal drug.	
HGNC:14372	SCYL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14372		
HGNC:14373	GLMN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14373		
HGNC:14374	NLRP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14374		
UBERON:0015482	right hepatic artery	biolink:AnatomicalEntity	mondo			right branch of hepatic artery proper|right part of hepatic artery proper|ramus dexter (arteria hepatica propria)	http://purl.obolibrary.org/obo/UBERON_0015482	A hepatic artery that is part of a right lobe of liver.	
MONDO:0006648	anterior compartment syndrome	biolink:Disease	mondo	ICD10:M76.81|EFO:1000808|MESH:D000868|DOID:3933|UMLS:C0003152|SCTID:12694001		anterior compartment syndrome	http://purl.obolibrary.org/obo/MONDO_0006648	Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive physical exertion.	SNOMEDCT:12694001|MESH:D000868|DOID:3933|UMLS:C0003152
UBERON:0015485	choledocho-duodenal junction	biolink:AnatomicalEntity	mondo			choledochoduodenal junction	http://purl.obolibrary.org/obo/UBERON_0015485	hat part of the duodenal wall traversed by the ductus choledochus, ductus pancreaticus, and ampulla.	
MONDO:0006649	anterior ischemic optic neuropathy	biolink:Disease	mondo	SCTID:404659001|UMLS:C0155305|GARD:0009790|COHD:373487|EFO:1000809|ICD10:H47.01|MESH:D018917|ICD9:377.41|DOID:12010|MedDRA:10068250	gard_rare	optic disc infarction leading to vision loss|aion|ischemic optic neuropathy	http://purl.obolibrary.org/obo/MONDO_0006649	Anterior ischemic optic neuropathy (AION) is an eye disease characterized by infarction of the optic disk leading to vision loss. It can be nonarteritic (nonarteritic anterior ischemic optic neuropathy or NAION) or arteritic, the latter being associated with giant cell arteritis (GCA; often termed temporal arteritis). Vision loss with both varieties is typically rapid (over minutes, hours, or days) and painless. Symptoms such as a general feeling of being unwell (malaise), muscle aches and pains, headaches over the temple, pain when combing hair, pain in the jaw after chewing, and tenderness over the temporal artery (one of the major arteries of the head) may be present with giant cell arteritis. At exam, visual acuity is reduced and the optic disc is swollen. In both subtypes, visual field examination is often reduced in the inferior and central visual fields. The visual loss is usually permanent, with some recovery possibly occurring within the first weeks or months. The arteritic variety is treated with corticosteroids. Treatment of the nonarteritic variety withaspirinor corticosteroids has not been helpful.	SNOMEDCT:404659001|DOID:12010|UMLS:C0155305|MESH:D018917
MONDO:0006646	angioleiomyoma	biolink:Disease	mondo	UMLS:C0206653|ICDO:8894/0|NCIT:C3747|DOID:4265|EFO:1000806|EFO:1000084|MESH:D018229		angiomyoma (morphologic abnormality)|angiomyoma|vascular leiomyoma|angioleiomyoma	http://purl.obolibrary.org/obo/MONDO_0006646	A benign, slow-growing neoplasm that arises from the dermis or subcutaneous tissue. It is characterized by the presence of well-differentiated smooth muscle cells which are arranged around numerous vessels.	DOID:4265|UMLS:C0206653|MESH:D018229|NCIT:C3747
MONDO:0006647	anterior cerebral artery infarction	biolink:Disease	mondo	MESH:D020243|UMLS:C0751843|EFO:1000807|DOID:3528			http://purl.obolibrary.org/obo/MONDO_0006647	Necrosis occurring in the anterior cerebral artery system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the cerebral hemisphere, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body.	UMLS:C0751843|DOID:3528|MESH:D020243
MONDO:0006644	alcoholic liver cirrhosis	biolink:Disease	mondo	SCTID:419728003|MedDRA:10001618|UMLS:C0023891|CSP:1754-7677|COHD:196463|ICD9:571.2|EFO:1000802|DOID:14018|ICD10:K70.3|NCIT:C34782|UMLS:C1622502|MESH:D008104		portal cirrhosis|alcoholic cirrhosis of liver|alcoholic cirrhosis|Laennec's cirrhosis|Laennec's cirrhosis, alcoholic	http://purl.obolibrary.org/obo/MONDO_0006644	A disorder of the liver characterized by the presence of fibrotic scar tissue instead of healthy liver tissue. This condition is attributed to excessive consumption of alcoholic beverages.	DOID:14018|MESH:D008104|NCIT:C34782|SNOMEDCT:419728003|UMLS:C0023891|UMLS:C1622502
UBERON:0015481	left hepatic artery	biolink:AnatomicalEntity	mondo			ramus sinister (arteria hepatica propria)|left branch of hepatic artery|left part of hepatic artery proper	http://purl.obolibrary.org/obo/UBERON_0015481	A hepatic artery that is part of a left lobe of liver.	
MONDO:0006645	alcoholic polyneuropathy	biolink:Disease	mondo	ICD9:357.5|NCIT:C26926|DOID:14183|UMLS:C0085677|COHD:378421|EFO:1000803|MESH:D020269|SCTID:7916009|ICD10:G62.1		alcoholic neuropathy|alcohol-related polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0006645	Any disease affecting more than one nerve.	UMLS:C0085677|DOID:14183|MESH:D020269|NCIT:C26926|SNOMEDCT:7916009
MONDO:0006642	alcohol withdrawal delirium	biolink:Disease	mondo	SCTID:8635005|MESH:D000430|COHD:377830|MedDRA:10001610|ICD9:291.0|EFO:1000800		delirium Tremens|alcohol withdrawal-induced delirium Tremens|autonomic hyperactivity, alcohol withdrawal associated|hallucinosis, alcohol withdrawal|delirium, alcohol withdrawal|delirium Tremens, alcohol withdrawal induced|alcohol withdrawal hallucinosis|alcohol withdrawal associated autonomic hyperactivity|alcohol withdrawal induced delirium Tremens	http://purl.obolibrary.org/obo/MONDO_0006642	An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include confusion; delusions; vivid hallucinations; tremor; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175)	MESH:D000430|SNOMEDCT:8635005
MONDO:0006643	alcoholic cardiomyopathy	biolink:Disease	mondo	SCTID:83521008|MedDRA:10001616|MESH:D002310|DOID:12935|UMLS:C0007192|EFO:1000801|ICD10:I42.6|NCIT:C53653|ICD9:425.5		alcoholic cardiomyopathy|alcohol-induced heart muscle disease|dilated cardiomyopathy secondary to alcohol	http://purl.obolibrary.org/obo/MONDO_0006643	A dilated cardiomyopathy which is associated with consumption of large amounts of alcohol over a period of years.	UMLS:C0007192|DOID:12935|MESH:D002310|NCIT:C53653|SNOMEDCT:83521008
MONDO:0006640	adrenal gland hyperfunction	biolink:Disease	mondo	DOID:3947|MESH:D000308|HP:0003118|UMLS:CN205287|SCTID:275437005|ICD9:255.3|UMLS:C0001622|EFO:1000797|GARD:0008252		hyperadrenalism|hyperfunction, adrenocortical|hypercorticism|disorder of corticoadrenal overactivity|hyperfunction, adrenal gland|adrenal gland hyperfunction|hyperadrenalism|hypercortisolism|hyperadrenocorticism|hypercortisolemia|adrenocortical hyperfunction	http://purl.obolibrary.org/obo/MONDO_0006640	Excess production of adrenal cortex hormones.	MESH:D000308|DOID:3947|NCIT:C113208|UMLS:CN205287|SNOMEDCT:275437005|UMLS:C0001622
MONDO:0006641	afferent loop syndrome	biolink:Disease	mondo	MESH:D000343|ICD9:537.89|DOID:8438|MedDRA:10056245|SCTID:20813000|EFO:1000799|UMLS:C0001727			http://purl.obolibrary.org/obo/MONDO_0006641	A complication of gastrojejunostomy (billroth II procedure), a reconstructive gastroenterostomy. It is caused by acute (complete) or chronic (intermittent) obstruction of the afferent jejunal loop due to hernia, intussusception, kinking, volvulus, etc. It is characterized by pain and vomiting of bile-stained fluid.	UMLS:C0001727|MESH:D000343|SNOMEDCT:20813000|DOID:8438
HGNC:26361	HEPACAM	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26361		
MONDO:0018609	syndromic hereditary optic neuropathy	biolink:Disease	mondo	UMLS:CN237645|Orphanet:441434	ordo_group_of_disorders	syndrome associated with hereditary optic neuropathy|syndromic hereditary optic neuropathy|syndrome associated with hereditary optic neuropathy	http://purl.obolibrary.org/obo/MONDO_0018609	A hereditary optic neuropathy that is part of a larger syndrome.	ORPHA:441434|UMLS:CN237645
MONDO:0018617	baroreflex failure	biolink:Disease	mondo	Orphanet:443084|GARD:0010664|UMLS:CN237655|ICD10:G90.4	gard_rare|ordo_clinical_syndrome		http://purl.obolibrary.org/obo/MONDO_0018617	Baroreflex failure is a rare disorder that causes fluctuations in blood pressure with episodes of severe hypertension (high blood pressure) and elevated heart rate in response to stress, exercise, and pain. Individuals may also have hypotension (low blood pressure) with normal or reduced heart rate during periods of rest. Symptoms of baroreflex failure may include headache, sweating, and a heart rate that does not respond to medications. The onset of baroreflex failure may be very abrupt or more gradual. In many cases, the cause of baroreflex failure is not known. However, baroreflex failure can result from surgery or radiation treatment for cancers of the neck, injury to the nerves involved in sensing blood pressure, or a degenerative neurologic disease. Treatment usually involves medications to control blood pressure and heart rate along with stress reduction techniques.	UMLS:CN237655|ORPHA:443084
MONDO:0018616	central serous chorioretinopathy	biolink:Disease	mondo	ICD9:362.41|UMLS:C0730328|NCIT:C115124|COHD:372894|ICD10:H35.7|GARD:0000200|Orphanet:443079|SCTID:312956001|MESH:D056833	ordo_disease|gard_rare	CSC|central serous chorioretinopathy after bone marrow transplantation|central serous retinopathy|CSCR|central serous choroidopathy	http://purl.obolibrary.org/obo/MONDO_0018616	Central serous chorioretinopathy is a disease that causes fluid to build up under the retina, the back part of the inner eye that sends sight information to the brain. The fluid leaks from thechoroid (theblood vessel layer under the retina). The cause of this condition is unknown but stress can be a risk factor. Signs and symptoms include dim and blurred blind spot in the center of vision, distortion of straight linesand seeingobjectsas smaller or farther away. Many cases of central serous chorioretinopathy improve without treatment after 1-2 months. Laser treatment may be an option for other individuals.	UMLS:C0730328|MESH:D056833|SNOMEDCT:312956001|NCIT:C115124|ORPHA:443079
MONDO:0018619	hyperinsulinemic hypoglycaemia	biolink:Disease	mondo	Orphanet:443095|OMIMPS:256450	ordo_group_of_disorders	hyperinsulinemia hypoglycemia	http://purl.obolibrary.org/obo/MONDO_0018619		ORPHA:443095
MONDO:0018618	46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect	biolink:Disease	mondo	Orphanet:443090	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018618		ORPHA:443090
MONDO:0018613	AH amyloidosis	biolink:Disease	mondo	ICD10:E85.9|Orphanet:442582	ordo_disease	heavy chain amyloidosis	http://purl.obolibrary.org/obo/MONDO_0018613		ORPHA:442582
MONDO:0018612	congenital hypothyroidism	biolink:Disease	mondo	ICD10:E03.1|DOID:0050328|ICD9:243|ICD10:E00.9|GARD:0001487|ICD10:E00.1|ICD9:269.3|ICD9:759.89|SCTID:190268003|NCIT:C26734|UMLS:C0010308|ICD10:E03.0|ICD10:E00.2|ICD10:E00.0|Orphanet:442|MedDRA:10010510|SCTID:217710005|MESH:D003409	ordo_group_of_disorders	infantile hypothyroidism|fetal iodine deficiency syndrome|congenital hypothyroidism not due to iodine deficiency|cretinism|congenital hypothyroidism|congenital goiter|congenital iodine deficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0018612	Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth.	MEDDRA:10010510|ORPHA:442|DOID:0050328|SNOMEDCT:190268003|UMLS:C0010308|NCIT:C98921|SNOMEDCT:217710005|NCIT:C26734|MESH:D003409
MONDO:0018615	hemicrania continua	biolink:Disease	mondo	ICD10:G44.0|SCTID:443095000|COHD:40480082|Orphanet:443070|UMLS:C2349425|GARD:0010795|ICD10:G44.51|UMLS:CN237652|ICD9:339.41	ordo_disease|gard_rare		http://purl.obolibrary.org/obo/MONDO_0018615	Hemicrania continua (HC) is a type of primary headache disorder, which means the headache is not caused by another medical condition. Symptoms of HC include constant mild to moderate pain on one side of the head (unilateral) with periods of more intense, severe, migraine -like pain (exacerbations). These severe pain periods can last from 20 minutes to days. The frequency of exacerbations also varies greatly. The headache stays on the same side of the head and usually without pain free periods. HC is more common in women and most often starts in adulthood, but may begin anywhere from 5 to 67 years of age. Diagnosis of hemicrania continua (HC) is made by ruling out other possible causes of the pain and by clinical symptoms. During the periods of severe pain, at least one of the following symptoms must be present on same side of the body as the headache: watering or red eyes (conjunctival injection), congested or runny nose, or drooping eyelid. In addition, the headache pain must respond to treatment with indomethacin. The cause of HC is unknown. Other treatments for those who cannot tolerate long term indomethacin therapy are being studied.	UMLS:CN237652|SNOMEDCT:443095000|UMLS:C2349425|ORPHA:443070
MONDO:0018614	undetermined early-onset epileptic encephalopathy	biolink:Disease	mondo	ICD10:G40.4|Orphanet:442835	ordo_disease	undetermined EOEE	http://purl.obolibrary.org/obo/MONDO_0018614		ORPHA:442835
HP:0032943	Abnormal urine pH	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0032943	A deviation of urine pH from the normal range of 4.5 to 7.8.	
MONDO:0018611	early-onset lamellar cataract	biolink:Disease	mondo	UMLS:CN237647|Orphanet:441452	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0018611		ORPHA:441452|UMLS:CN237647
HGNC:14388	GP6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14388		
MONDO:0018610	early-onset posterior subcapsular cataract	biolink:Disease	mondo	Orphanet:441447|UMLS:CN237646|ICD10:H26.0	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0018610		ORPHA:441447|UMLS:CN237646
MONDO:0018680	cutaneous pseudolymphoma	biolink:Disease	mondo	UMLS:C0311220|ICD10:L98.6|SCTID:128862000|NCIT:C62776|Orphanet:451607	ordo_disease	pseudolymphoma of Spiegler|lymphadenosis Benigna cutis|lymphocytoma cutis	http://purl.obolibrary.org/obo/MONDO_0018680	A pseudolymphoma of the skin.	SNOMEDCT:128862000|NCIT:C62776|ORPHA:451607|UMLS:C0311220
MONDO:0004038	dental enamel hypoplasia	biolink:Disease	mondo	UMLS:C0011351|NCIT:C34529|SCTID:26597004|DOID:693|EFO:1001304|MESH:D003744		enamel hypoplasia	http://purl.obolibrary.org/obo/MONDO_0004038	Deficiency in the enamel tissue that results in the formation of grooves, pits, or dents on the surface of the affected teeth.	MESH:D003744|SNOMEDCT:26597004|NCIT:C34529|DOID:693|UMLS:C0011351
MONDO:0004037	retinal edema	biolink:Disease	mondo	SCTID:6141006|COHD:372903|DOID:6929|ICD10:H35.81|ICD9:362.83			http://purl.obolibrary.org/obo/MONDO_0004037		SNOMEDCT:6141006|DOID:6929
MONDO:0006699	choledocholithiasis	biolink:Disease	mondo	DOID:11755|EFO:1000865|MESH:D042883|MedDRA:10049891|UMLS:C0701818			http://purl.obolibrary.org/obo/MONDO_0006699	Presence or formation of gallstones in the common bile duct.	DOID:11755|UMLS:C0701818|MESH:D042883
MONDO:0004039	papillary extrahepatic bile duct adenocarcinoma	biolink:Disease	mondo	DOID:6931			http://purl.obolibrary.org/obo/MONDO_0004039		DOID:6931
MONDO:0004034	eye lymphoma	biolink:Disease	mondo	NCIT:C35690|UMLS:C1333519|DOID:6903		primary eye lymphoma|eye lymphoma|eyeball of camera-type eye lymphoma|lymphoma of eyeball of camera-type eye	http://purl.obolibrary.org/obo/MONDO_0004034	A lymphoma that involves the eye.	UMLS:C1333519|NCIT:C35690|DOID:6903
MONDO:0006697	obsolete Chlamydophila infectious disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006697		
MONDO:0006698	cholecystolithiasis	biolink:Disease	mondo	EFO:1000864|UMLS:C0947622|MedDRA:10049890|MESH:D041761|DOID:11151			http://purl.obolibrary.org/obo/MONDO_0006698	Single or multiple, ovoid or irregular, solid particles that are formed from bile, cholesterol, and calcium in the gallbladder cavity.	DOID:11151|UMLS:C0947622|NCIT:C34443|MESH:D041761
MONDO:0004033	familial ovarian carcinoma	biolink:Disease	mondo	UMLS:C1333992|NCIT:C36102|DOID:6901		familial ovarian carcinoma|familiar ovarian carcinoma|hereditary ovarian cancer|hereditary ovarian carcinoma	http://purl.obolibrary.org/obo/MONDO_0004033	Ovarian carcinoma that has developed in relatives of patients that have a history of ovarian carcinoma.	NCIT:C36102|DOID:6901|UMLS:C1333992
MONDO:0004036		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004036		
MONDO:0006695	obsolete cervical rib syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006695		
MONDO:0006696	cervix erosion	biolink:Disease	mondo	DOID:3456|EFO:1000862|MESH:D002579|SCTID:61253004|MedDRA:10015128|UMLS:C0007869		erosion of cervix	http://purl.obolibrary.org/obo/MONDO_0006696	Loss or destruction of the epithelial lining of the uterine cervix.	SNOMEDCT:61253004|MESH:D002579|DOID:3456|UMLS:C0007869
MONDO:0004035	glomangiomatosis	biolink:Disease	mondo	NCIT:C27496|DOID:6906|UMLS:C1333824			http://purl.obolibrary.org/obo/MONDO_0004035	A benign multifocal proliferation of glomus cells forming clusters around dilated vascular spaces.	NCIT:C27496|UMLS:C1333824|DOID:6906
MONDO:0004030	ureter transitional cell carcinoma	biolink:Disease	mondo	SCTID:300988009|EFO:1001973|UMLS:C0577692|DOID:6888|NCIT:C4830		ureter transitional cell carcinoma|ureteral urothelial cell carcinoma|ureter urothelial carcinoma|urothelial cell carcinoma of ureter|urothelial cell carcinoma of the ureter|ureteral transitional cell carcinoma|transitional cell carcinoma of ureter|ureter urothelial cancer|transitional cell carcinoma of the ureter	http://purl.obolibrary.org/obo/MONDO_0004030	A carcinoma that arises from the transitional epithelium of the ureter. It is associated with tobacco use and usually presents with gross or microscopic hematuria.	NCIT:C4830|DOID:6888|SNOMEDCT:300988009|UMLS:C0577692
MONDO:0006693	cerebral arterial disease	biolink:Disease	mondo	MESH:D002539|DOID:3527|EFO:1000859|UMLS:C0007774			http://purl.obolibrary.org/obo/MONDO_0006693	Pathological conditions of intracranial arteries supplying the cerebrum. These diseases often are due to abnormalities or pathological processes in the anterior cerebral artery; middle cerebral artery; and posterior cerebral artery.	MESH:D002539|DOID:3527|UMLS:C0007774
MONDO:0006694	cerebral atherosclerosis	biolink:Disease	mondo	UMLS:C0007775|NCIT:C34459|ICD9:437.0|ICD10:I67.2|DOID:12720|EFO:1000860|SCTID:55382008|MedDRA:1008095|COHD:316437		cerebral atherosclerosis	http://purl.obolibrary.org/obo/MONDO_0006694	Atherosclerosis of the cerebral vasculature.	NCIT:C34459|SNOMEDCT:55382008|UMLS:C0007775|DOID:12720
HGNC:28991	RUBCN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28991		
MONDO:0004032	ovarian seromucinous carcinoma	biolink:Disease	mondo	EFO:1000358|NCIT:C40090|DOID:6899|ONCOTREE:OSMCA|UMLS:C1518232		mixed epithelial carcinoma of the ovary|mixed epithelial carcinoma of ovary|malignant ovarian mixed epithelial neoplasm|malignant ovarian mixed epithelial tumor|ovarian mixed epithelial carcinoma|ovarian Seromucinous carcinoma	http://purl.obolibrary.org/obo/MONDO_0004032	A malignant mixed epithelial neoplasm that arises from the ovary and is composed predominantly of serous and endocervical-type mucinous epithelium.	NCIT:C40090|DOID:6899|UMLS:C1518232
MONDO:0006691	obsolete causalgia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006691		
MONDO:0006692	central pontine myelinolysis	biolink:Disease	mondo	ICD10:G37.2|MESH:D017590|SCTID:6807001|UMLS:C0206083|GARD:0008749|DOID:636|NCIT:C84623|ICD9:341.8|EFO:1000857|MedDRA:10007968		osmotic demyelination syndrome	http://purl.obolibrary.org/obo/MONDO_0006692	A central nervous system disorder caused by demyelination within the central basis pontis of the brain. It is characterized by spastic quadriplegia, pseudobulbar palsy and encephalopathy. It is observed in patients with severe hyponatremia, particularly when the hyponatremia is corrected too rapidly.	NCIT:C84623|SNOMEDCT:6807001|UMLS:C0206083|DOID:636|MESH:D017590
MONDO:0004031	ovary mixed epithelial carcinoma	biolink:Disease	mondo	DOID:6898|ONCOTREE:MXOV		mixed epithelial carcinoma of ovary|mixed ovarian carcinoma	http://purl.obolibrary.org/obo/MONDO_0004031		DOID:6898
HGNC:28993	PIEZO1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28993		
MONDO:0006690	carotid artery thrombosis	biolink:Disease	mondo	SCTID:86003009|EFO:1000853|ICD9:433.10|UMLS:C0007274|MESH:D002341|DOID:3410|MedDRA:10007688		carotid artery thrombosis	http://purl.obolibrary.org/obo/MONDO_0006690	Blood clot formation in any part of the carotid arteries. This may produce carotid stenosis or occlusion of the vessel, leading to transient ischemic attack; cerebral infarction; or amaurosis fugax.	MESH:D002341|UMLS:C0007274|DOID:3410|SNOMEDCT:86003009
MONDO:0016027	benign neonatal seizures	biolink:Disease	mondo	MedDRA:10067866|NCIT:C117307|OMIMPS:121200|DOID:14264|Orphanet:1949|ICD10:G40.3|SCTID:38281008	ordo_disease	benign familial convulsion|benign neonatal convulsions|benign familial neonatal seizures|seizures, benign familial neonatal|benign Familal neonatal seizures|BFNS|benign familial convulsions|benign familial neonatal convulsions	http://purl.obolibrary.org/obo/MONDO_0016027	Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.	UMLS:C0220669|SNOMEDCT:38281008|MEDDRA:10067866|UMLS:C2930911|MESH:D020936|NCIT:C117307|DOID:14264|ORPHA:1949|MESH:C535466
HGNC:14357	MMP21	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14357		
MONDO:0018689	plasma cell leukemia	biolink:Disease	mondo	COHD:133154|ICDO:9733/3|EFO:0006475|SCTID:95210003|Orphanet:454714|ICD10:C90.10|ICD9:203.10|GARD:0009373|ICD10:C90.1|MESH:D007952|ICD9:203.1|NCIT:C3180|DOID:9513|UMLS:C0023484	ordo_disease|gard_rare	leukemia plasmacytic|leukemia, plasma cell|plasma cell leukemia|PCL|plasmacytic leukemia	http://purl.obolibrary.org/obo/MONDO_0018689	An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. It is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count.	DOID:9513|NCIT:C3180|ORPHA:454714|SNOMEDCT:95210003|UMLS:C0023484|MESH:D007952
MONDO:0016028	erythromelalgia	biolink:Disease	mondo	SCTID:37151006|ICD10:I73.8|NCIT:C34593|MESH:D004916|ICD10:I73.81|Orphanet:1956|COHD:134380|UMLS:C0014804|DOID:9240|MedDRA:10015284|ICD9:443.82	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016028	Erythromelalgia is a rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia, hypercholesterolemia, mushroom or mercury poisoning, and some autoimmune disorders.	MEDDRA:10015284|DOID:9240|MESH:D004916|UMLS:C0014804|NCIT:C34593|ORPHA:1956|SNOMEDCT:37151006
MONDO:0016029	esthesioneuroblastoma	biolink:Disease	mondo	Orphanet:1957|ICD10:C30.0|SCTID:422886007|GARD:0002197	ordo_disease	olfactory neuroblastoma	http://purl.obolibrary.org/obo/MONDO_0016029	Esthesioneuroblastoma (ENB) is a rare malignant neoplasm of the sinonasal cavity, arising from the basal layers of olfactory neuroepithelial cells in the superior nasal vault, which usually occurs in the 5th to 6th decades of life and is characterized clinically by non-specific symptoms such as progressive ipsilateral nasal block, sinusitis, facial pain, intermittent headaches, hyposmia/dysosmia, rhinorrhea and epistaxis as well as proptosis, diplopia and excessive lacrimation due to orbital extension. With early treatment and in the absence of distant metastases, ENB appears to have a good prognosis (compared to other superior nasal malignancies), despite a high rate of cervical metastases.	SNOMEDCT:422886007|ORPHA:1957
MONDO:0018686	acquired Creutzfeldt-Jakob disease	biolink:Disease	mondo	MESH:C538481|Orphanet:454700|UMLS:CN237752|ICD10:A81.0	ordo_disease	acquired CJD|sporadic CJD|acquired Creutzfeldt Jacob disease	http://purl.obolibrary.org/obo/MONDO_0018686	An instance of Creutzfeldt Jacob disease that is acquired during the lifetime of the individual.	MESH:C538481|ORPHA:454700|UMLS:CN237752
MONDO:0016023	obsolete ocular coloboma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016023		
MONDO:0016024	shoulder and thorax deformity-congenital heart disease syndrome	biolink:Disease	mondo	ICD10:Q87.8|Orphanet:1940	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0016024		ORPHA:1940
MONDO:0018685	incessant infant ventricular tachycardia	biolink:Disease	mondo	ICD10:I47.2|SCTID:233908008|Orphanet:45453|UMLS:C0340487	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018685	Incessant infant ventricular tachycardia is a rare type of ventricular tachycardia (VT) characterized by the presence of tachycardia originating from the ventricles, observed for more than 10% of a 24 hour monitoring period. Patients are either asymptomatic or present congestive heart failure.	ORPHA:45453|SNOMEDCT:233908008|UMLS:C0340487
MONDO:0018688	anti-p200 pemphigoid	biolink:Disease	mondo	ICD10:L12.8|EFO:0008597|Orphanet:454710|UMLS:CN237754	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018688		ORPHA:454710|UMLS:CN237754
MONDO:0016025	myoclonic-astastic epilepsy	biolink:Disease	mondo	ICD10:G40.4|Orphanet:1942|SCTID:230421008|ICD9:345.10|GARD:0002169	gard_rare|ordo_disease	epilepsy with myoclonic-atonic seizures|epilepsy with myoclonic-astatic seizures|mae|myoclonic astatic epilepsy|myoclonic-astatic epilepsy in early childhood|Doose syndrome|myoclonic atonic epilepsy|epilepsy with myoclono-astatic crisis|EMAS	http://purl.obolibrary.org/obo/MONDO_0016025	Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children.	SNOMEDCT:230421008|ORPHA:1942
MONDO:0018687	progressive muscular atrophy	biolink:Disease	mondo	Orphanet:454706|ICD10:G12.2|ICD9:335.21|SCTID:88923002|COHD:376679|UMLS:C0917981|DOID:318|NCIT:C85027|ICD10:G12.21|EFO:0008864	ordo_disease	pure progressive muscular atrophy|PMA|progressive spinal muscular atrophy	http://purl.obolibrary.org/obo/MONDO_0018687	A rare, milder form of amyotrophic lateral sclerosis. It is characterized by a slowly progressive clinical course. Signs and symptoms include muscle weakness, atrophy, and fasciculation.	SNOMEDCT:88923002|ORPHA:454706|DOID:318|UMLS:C0917981|NCIT:C85027
MONDO:0016026	infant epilepsy with migrant focal crisis	biolink:Disease	mondo	UMLS:C4510564|ICD10:G40.4|Orphanet:1943|SCTID:724274009|GARD:0002995	gard_rare|ordo_disease		http://purl.obolibrary.org/obo/MONDO_0016026	Infant epilepsy with migrant focal crisis is characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography (CT) scan and magnetic resonance imaging (MRI). The aetiology is unknown.	UMLS:C4510564|SNOMEDCT:724274009|ORPHA:1943
MONDO:0018682	congenital insensitivity to pain with severe intellectual disability	biolink:Disease	mondo	Orphanet:453510	ordo_disease	congenital absence of pain with severe intellectual disability|congenital insensitivity to pain with preserved temperature sensation|congenital analgesia with severe intellectual disability|congenital insensitivity to pain with severe non-progressive cognitive delay	http://purl.obolibrary.org/obo/MONDO_0018682		ORPHA:453510
MONDO:0018681	neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome	biolink:Disease	mondo	UMLS:CN237747|Orphanet:453499	clingen|ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0018681		ORPHA:453499|UMLS:CN237747
MONDO:0016020	frontal encephalocele	biolink:Disease	mondo	Orphanet:1931|SCTID:253103006|ICD10:Q01.0	ordo_clinical_subtype	anterior encephalocele	http://purl.obolibrary.org/obo/MONDO_0016020		ORPHA:1931|SNOMEDCT:253103006
MONDO:0018684	idiopathic neonatal atrial flutter	biolink:Disease	mondo	Orphanet:45452|SCTID:715560009|UMLS:CN205105|ICD10:P29.1	ordo_disease	neonatal cardiac dysrhythmia	http://purl.obolibrary.org/obo/MONDO_0018684	Idiopathic neonatal atrial flutter (AFL) is a rare rhythm disorder, characterized by sustained tachycardia in newborns and infants with an atrial rate often at around 440 beats/minute (range 340-580). AFL may manifest as asymptomatic tachycardia, congestive heart failure or hydrops.	ORPHA:45452|SNOMEDCT:715560009|UMLS:CN205105
MONDO:0016021	obsolete early infantile epileptic encephalopathy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0016021		
MONDO:0018683	acquired ichthyosis	biolink:Disease	mondo	NCIT:C112831|ICD10:L85.0|MESH:C538175|GARD:0000476|SCTID:8691004|Orphanet:454	gard_rare|ordo_disease	fish scale disease, acquired|acquired ichthyosis (disease)|ichthyosis, acquired|ichthyosis acquisita|acquired ichthyosis	http://purl.obolibrary.org/obo/MONDO_0018683	A non-hereditary form of ichthyosis characterized by plate-like scales on the legs, arms and occasionally the torso.	SNOMEDCT:8691004|NCIT:C112831|MESH:C538175|ORPHA:454
MONDO:0016022	early myoclonic encephalopathy	biolink:Disease	mondo	EFO:1001900|Orphanet:1935|UMLS:C0014550|GARD:0007142|SCTID:44423001|DOID:308|UMLS:C0270855|NCIT:C116593|ICD10:G40.4	ordo_clinical_syndrome	myoclonus epilepsy|early myoclonic encephalopathy with suppression-bursts|early myoclonic encephalopathy|epileptic seizures - myoclonic|myoclonic seizure|myoclonic epilepsy|myoclonic seizure disorder|myoclonia epileptica|eme|epileptic seizures, myoclonic	http://purl.obolibrary.org/obo/MONDO_0016022	Early myoclonic encephalopathy (EME) is characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern.	UMLS:C0014550|DOID:308|UMLS:C0270855|NCIT:C116593|ORPHA:1935|SNOMEDCT:44423001
NCBITaxon:33682	Euglenozoa	organism taxon	mondo	GC_ID:1		Euglenozoans	http://purl.obolibrary.org/obo/NCBITaxon_33682		
HGNC:26348	SEPTIN12	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26348		
MONDO:0004049	combat disorder	biolink:Disease	mondo	SCTID:279611005|MESH:D003130|DOID:6950		combat stress disorder|stress disorders, combat|war neuroses|neuroses, war|neuroses, combat|disorder, combat stress|disorders, combat|Shocks, shell|war neurosis|shock, shell|neurosis, combat|disorders, combat stress|disorder, combat|stress disorder, combat|combat stress disorders|combat neurosis|neurosis, war|combat neuroses|shell shock|combat disorder|shell Shocks	http://purl.obolibrary.org/obo/MONDO_0004049	Neurotic reactions to unusual, severe, or overwhelming military stress.	MESH:D003130|SNOMEDCT:279611005|DOID:6950|NCIT:C34498
MONDO:0004048	immature gastric teratoma	biolink:Disease	mondo	DOID:6948|UMLS:C1334151|NCIT:C5256		malignant gastric teratoma|malignant teratoma of the stomach|malignant teratoma of stomach|stomach malignant teratoma|immature gastric teratoma	http://purl.obolibrary.org/obo/MONDO_0004048	A malignant teratoma that arises from the stomach.	NCIT:C5256|UMLS:C1334151|DOID:6948
MONDO:0004045	pediatric intraocular retinoblastoma	biolink:Disease	mondo	NCIT:C9047|DOID:6938|UMLS:C1321869		intraocular retinoblastoma|childhood intraocular retinoblastoma|intraocular retinoblastoma of childhood|pediatric intraocular retinoblastoma	http://purl.obolibrary.org/obo/MONDO_0004045	Retinoblastoma during childhood that has not spread beyond the eye.	NCIT:C9047|UMLS:C1321869|DOID:6938
MONDO:0004044	ureter urothelial papilloma	biolink:Disease	mondo	NCIT:C6160|DOID:6936|UMLS:C1519823		ureter urothelial papilloma	http://purl.obolibrary.org/obo/MONDO_0004044	A benign epithelial neoplasm that produces visible warty projections from the epithelial surface of the ureter.	DOID:6936|NCIT:C6160|UMLS:C1519823
MONDO:0004047	sphenoidal sinus neoplasm	biolink:Disease	mondo	SCTID:126679002|NCIT:C6792|DOID:6947|UMLS:C0345676		neoplasm of the sphenoid sinus|sphenoid sinus neoplasm|sphenoid sinus tumor|sphenoidal sinus neoplasm (disease)|neoplasm of the sphenoidal sinus|tumor of sphenoid sinus|tumor of the sphenoid sinus|neoplasm of sphenoidal sinus|sphenoidal sinus neoplasm|sphenoidal sinus tumor|tumor of the sphenoidal sinus|neoplasm of sphenoid sinus|tumor of sphenoidal sinus	http://purl.obolibrary.org/obo/MONDO_0004047	A benign or malignant neoplasm that affects the sphenoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.	NCIT:C6792|SNOMEDCT:126679002|UMLS:C0345676|DOID:6947
MONDO:0004046	childhood brain meningioma	biolink:Disease	mondo	NCIT:C6253|DOID:6939|UMLS:C1332949		pediatric meningioma of the brain|brain pediatric meningioma|pediatric brain meningioma|childhood meningioma of the brain|Brain meningioma|childhood meningioma of brain|pediatric meningioma of brain	http://purl.obolibrary.org/obo/MONDO_0004046	A brain meningioma that occurs during childhood.	DOID:6939|UMLS:C1332949|NCIT:C6253
MONDO:0004041	urothelial papilloma	biolink:Disease	mondo	ICDO:8120/1|DOID:6933|ONCOTREE:UPA|NCIT:C3842		bladder papilloma|bladder transitional cell papilloma|urothelial papilloma|uPA|urinary bladder urothelial papilloma|transitional cell papilloma of bladder	http://purl.obolibrary.org/obo/MONDO_0004041	A rare benign condition, characterized by a papillary growth in the urinary tract with a central fibrovascular core. The latter is lined by normal urothelium.	NCIT:C3842|DOID:6933
MONDO:0004040	urinary bladder inverted papilloma	biolink:Disease	mondo	DOID:6932|NCIT:C39859|SCTID:447765004|UMLS:C1511190		urinary bladder inverted papilloma|bladder inverted papilloma	http://purl.obolibrary.org/obo/MONDO_0004040	A neoplasm of the bladder in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria.	DOID:6932|UMLS:C1511190|SNOMEDCT:447765004|NCIT:C39859
MONDO:0004043	ureter inverted papilloma	biolink:Disease	mondo	DOID:6935|UMLS:C1336874|NCIT:C6174		inverted papilloma of ureter|inverted papilloma of the ureter|ureteral inverted papilloma|ureter inverted papilloma	http://purl.obolibrary.org/obo/MONDO_0004043	A neoplasm of the ureter in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria.	UMLS:C1336874|DOID:6935|NCIT:C6174
MONDO:0004042	urethra inverted papilloma	biolink:Disease	mondo	NCIT:C6173|UMLS:C1336887|DOID:6934		inverted papilloma of the urethra|inverted papilloma of urethra|urethra inverted papilloma|urethral inverted papilloma	http://purl.obolibrary.org/obo/MONDO_0004042	A neoplasm of the urethra in which the epithelial cells grow downward into the underlying supportive tissue.	UMLS:C1336887|DOID:6934|NCIT:C6173
HP:0005339	Abnormality of complement system	biolink:PhenotypicFeature	mondo	UMLS:C4025213			http://purl.obolibrary.org/obo/HP_0005339	An abnormality of the complement system.	
MONDO:0018679	primary cutaneous plasmacytosis	biolink:Disease	mondo	ICD10:L98.6|Orphanet:451602	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018679		ORPHA:451602
MONDO:0016016	toluene embryopathy	biolink:Disease	mondo	MESH:C538114|GARD:0002672|UMLS:C2931737|ICD10:Q86.8|Orphanet:1920	ordo_malformation_syndrome|gard_rare	Hersh Podruch Weisskopk syndrome|toluene embryopathy|microcephaly, central nervous system dysfunction, minor craniofacial and limb anomalies, and variable growth deficiency	http://purl.obolibrary.org/obo/MONDO_0016016	Toluene embryopathy is a neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome.	UMLS:C2931737|MESH:C538114|ORPHA:1920
MONDO:0018678	polyclonal hyperviscosity syndrome	biolink:Disease	mondo	ICD10:D89.0|Orphanet:450322|UMLS:CN237743	ordo_clinical_syndrome		http://purl.obolibrary.org/obo/MONDO_0018678		ORPHA:450322|UMLS:CN237743
MONDO:0016017	methimazole embryofetopathy	biolink:Disease	mondo	SCTID:724144006|GARD:0003573|UMLS:C4510379|Orphanet:1923|ICD10:Q86.8	gard_rare|ordo_malformation_syndrome	methimazole embryofetopathy|MMI/CMZ embryofetopathy|Methimazole/carbimazole embryofetopathy|Methimazole antenatal exposure|MMI/CMZ embryopathy|Methimazole/carbimazole embryopathy|fetal methimazole syndrome	http://purl.obolibrary.org/obo/MONDO_0016017	Methimazole embryopathy is a teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia.	UMLS:C4510379|SNOMEDCT:724144006|ORPHA:1923
MONDO:0016018	diabetic embryopathy	biolink:Disease	mondo	Orphanet:1926|ICD10:P00.4|UMLS:C3830518|SCTID:716020005|NCIT:C113485	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0016018	Diabetic embryopathy is characterized by congenital anomalies or foetal/neonatal complications in an infant that are linked to diabetes in the mother.	UMLS:C3830518|NCIT:C113485|SNOMEDCT:716020005|ORPHA:1926
MONDO:0016019	Rasmussen subacute encephalitis	biolink:Disease	mondo	NCIT:C125384|ICD9:323.9|GARD:0007527|Orphanet:1929|SCTID:230191005|MESH:C535291|UMLS:C2930868|ICD10:G04.8	ordo_disease	RE|Rasmussen encephalitis|Rasmussen syndrome|chronic focal encephalitis|CFE	http://purl.obolibrary.org/obo/MONDO_0016019	A rare, progressive chronic inflammation of a single cerebral hemisphere that usually affects children. It is characterized by severe seizures, loss of motor skills and speech, hemiparesis, and dementia.	MESH:C535291|NCIT:C125384|SNOMEDCT:230191005|UMLS:C2930868|ORPHA:1929
MONDO:0016012	diethylstilbestrol syndrome	biolink:Disease	mondo	Orphanet:1916|SCTID:716005004|ICD10:Q86.8|GARD:0001859|UMLS:C0853695|NCIT:C113422|MedDRA:10012780	ordo_disease|gard_rare	antenatal diethylstilbestrol exposure|fetal diethylstilbestrol syndrome|Distilbene embryofetopathy|DES syndrome|DES embryofetopathy|diethylstilbestrol embryofetopathy	http://purl.obolibrary.org/obo/MONDO_0016012	Diethylstilbestrol (DES) syndrome is a malformation syndrome reported in offspring (children and grandchildren) of women exposed to DES during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage.	UMLS:C0853695|NCIT:C113422|SNOMEDCT:716005004|MEDDRA:10012780|ORPHA:1916
MONDO:0018675	IgG4-related ophthalmic disease	biolink:Disease	mondo	ICD10:H05.1|Orphanet:449563|UMLS:CN237741	ordo_disease	eye IgG4-related disease|IgG4-related disease of eye	http://purl.obolibrary.org/obo/MONDO_0018675	A IgG4-related disease that involves the eye.	ORPHA:449563|UMLS:CN237741
MONDO:0016013	fetal methylmercury syndrome	biolink:Disease	mondo	GARD:0003575|Orphanet:1917|ICD9:759.89|SCTID:62110005|ICD10:T56.1|MESH:D020262	gard_rare|ordo_malformation_syndrome	Minamata disease|Methyl mercury antenatal infection|Methyl mercury antenatal exposure	http://purl.obolibrary.org/obo/MONDO_0016013	Foetal methylmercury syndrome is characterised by a group of symptoms that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury.	SNOMEDCT:62110005|MESH:D020262|UMLS:C0086626|UMLS:C0265376|ORPHA:1917
MONDO:0018674	IgG4-related submandibular gland disease	biolink:Disease	mondo	Orphanet:449432|ICD10:K11.2|SCTID:448131008|NCIT:C82887	ordo_disease	Kuttner's tumor|chronic sclerosing sialadenitis|Kuttner tumor|IgG4-related sialadenitis|Küttner tumor	http://purl.obolibrary.org/obo/MONDO_0018674	A chronic fibrotic inflammatory process affecting the salivary gland. Signs and symptoms include firm and painful swelling of the salivary gland, often associated with the presence of salivary gland stones.	SNOMEDCT:448131008|NCIT:C82887|ORPHA:449432
MONDO:0018677	visceral heterotaxy	biolink:Disease	mondo	NCIT:C117273|OMIMPS:306955|UMLS:C3178805|MedDRA:10067265|DOID:0050545|EFO:0009081|ICD10:Q89.3|Orphanet:450	ordo_group_of_disorders|clingen	heterotaxia syndrome|lateralization defect|situs ambiguus|heterotaxy, visceral|visceral heterotaxy|heterotaxy syndrome|heterotaxia	http://purl.obolibrary.org/obo/MONDO_0018677	A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton.	MEDDRA:10067265|NCIT:C117273|UMLS:C3178805|ORPHA:450|DOID:0050545
MONDO:0016014	fetal minoxidil syndrome	biolink:Disease	mondo	Orphanet:1918|GARD:0002308|SCTID:254251003|ICD9:760.79|ICD10:Q86.8|UMLS:C0432373	gard_rare|ordo_malformation_syndrome	minoxidil antenatal infection|minoxidil antenatal exposure	http://purl.obolibrary.org/obo/MONDO_0016014	Fetal minoxidil syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken minoxidil during pregnancy. Minoxidil is used in the treatment of malignant renal hypertension and as a topical solution to induce scalp hair growth. Hypertrichosis that gradually diminishes during the first six postnatal months has been reported. Additional reported features include cardiac (congenital great vessel transposition and pulmonary valve stenosis), neurodevelopmental (caudal regression sequence), gastrointestinal, renal, and limb malformations. Conclusive studies are however not available.	SNOMEDCT:254251003|ORPHA:1918|UMLS:C0432373
MONDO:0016015	phenobarbital embryopathy	biolink:Disease	mondo	Orphanet:1919|SCTID:715431002|GARD:0004315|ICD10:Q86.8|UMLS:C4275281	ordo_malformation_syndrome	phenobarbital antenatal exposure	http://purl.obolibrary.org/obo/MONDO_0016015	#64257;nger hypoplasia, brachydactyly and hypospadias have been reported in rare cases.	UMLS:C4275281|SNOMEDCT:715431002|ORPHA:1919
MONDO:0018676	eosinophilic angiocentric fibrosis	biolink:Disease	mondo	ICD10:J39.8|Orphanet:449566|GARD:0002032	ordo_disease|gard_rare	eosinophilic angiocentric fibrosis|EAF|Sinonasal eosinophilic angiocentric fibrosis|IgG4-related eosinophilic angiocentric fibrosis	http://purl.obolibrary.org/obo/MONDO_0018676		ORPHA:449566
MONDO:0018671	IgG4-related kidney disease	biolink:Disease	mondo	UMLS:CN237737|ICD10:N11.8|Orphanet:449395	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018671		ORPHA:449395|UMLS:CN237737
MONDO:0018670	symptomatic form of fragile X syndrome in female carrier	biolink:Disease	mondo	ICD10:Q99.2|UMLS:CN237736|Orphanet:449291	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018670		ORPHA:449291|UMLS:CN237736
HGNC:14361	IRX5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14361		
MONDO:0018673	IgG4-related pachymeningitis	biolink:Disease	mondo	UMLS:C4545992|ICD10:G03.9|Orphanet:449427|SCTID:762282007|GARD:0013256	ordo_disease|gard_rare	idiopathic hypertrophic pachymeningitis|idiopathic hypertrophic craniospinal pachymeningitis|idiopathic hypertrophic spinal pachymeningitis|idiopathic hypertrophic cranial pachymeningitis	http://purl.obolibrary.org/obo/MONDO_0018673	Idiopathic hypertrophic pachymeningitis (IHP) is a rare disorder causing inflammation and thickening of the outer layer (dura) of the brain and/or spinal cord. IHP can be widespread or cause tumor-like lesions. Before IHP can be diagnosed, other conditions including sarcoidosis, tumors, meningioma, infections (syphilis, tuberculosis, and Lyme disease), and autoimmune diseases (rheumatoid arthritis, Sjogrenbs syndrome, Wegenerbs granulomatosis, and IgG4-related disease) must be ruled out. IHP often presents with headache and cranial nerve impairment. Treatment may involve prednisone and/or an immune suppressing drug. This treatment often improves symptoms, however complete recovery is rare. Surgery may be recommended for people with advanced or severe IHP. Some people with IHP have no symptoms and may not need treatment.	SNOMEDCT:762282007|ORPHA:449427|UMLS:C4545992
MONDO:0016010	vitamin K-antagonist embryofetopathy	biolink:Disease	mondo	ICD9:759.89|MESH:C536683|ICD10:Q86.2|UMLS:C0265374|NCIT:C98906|GARD:0008580|Orphanet:1914|SCTID:38323006|MedDRA:10051445	gard_rare|ordo_malformation_syndrome	fetal warfarin syndrome|vitamin K-antagonist embryopathy|congenital warfarin syndrome|di Sala syndrome|coumarin embryopathy|vitamin K-antagonist embryofetopathy|vitamin K antagonists embryofetopathy|warfarin embryofetopathy|warfarin syndrome|fetal Coumadin syndrome|DiSala syndrome|warfarin embryopathy|embryofetopathy due to oral anticoagulant therapy|coumarin syndrome|vitamin K antagonist embryofetopathy|fetal anticoagulant syndrome|vitamin K antagonist embryopathy	http://purl.obolibrary.org/obo/MONDO_0016010	A teratogenic disorder observed in a newborn or child of a mother who was exposed to warfarin during pregnancy. Manifestations include nasal bridge depression, nasal bones hypoplasia, microcephaly, congenital heart disorders, and brachydactyly.	NCIT:C98906|SNOMEDCT:38323006|UMLS:C0265374|MEDDRA:10051445|ORPHA:1914|MESH:C536683
MONDO:0016011	fetal alcohol syndrome	biolink:Disease	mondo	Orphanet:1915|UMLS:C0015923|MedDRA:10016845|SCTID:205788004|DOID:0050667|ICD10:Q86.0|DOID:0050665|NCIT:C84713	ordo_malformation_syndrome	alcohol-related birth defects|static encephalopathy|FASD|alcohol-related neurodevelopmental disorder|ARND|FAS|fetal alcohol spectrum disorders|ARBD	http://purl.obolibrary.org/obo/MONDO_0016011	Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention).	MEDDRA:10016845|MESH:D005310|NCIT:C84713|UMLS:C0015923|ORPHA:1915|DOID:0050667|DOID:0050665|SNOMEDCT:205788004
MONDO:0018672	IgG4-related aortitis	biolink:Disease	mondo	Orphanet:449400|ICD10:I77.6	ordo_disease	IgG4-related periaortitis	http://purl.obolibrary.org/obo/MONDO_0018672		ORPHA:449400
MONDO:0004019	oxyphilic endometrial endometrioid adenocarcinoma	biolink:Disease	mondo	DOID:6865|NCIT:C27849|UMLS:C1518768		oxyphilic endometrial endometrioid adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0004019	A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of eosinophilic malignant glandular epithelial cells.	NCIT:C27849|UMLS:C1518768|DOID:6865
MONDO:0006679	bladder neck obstruction	biolink:Disease	mondo	ICD10:N32.0|DOID:13948|ICD9:596.0|UMLS:C0005694|MedDRA:10005053|SCTID:399072004|EFO:1000840|MESH:D001748|COHD:433813		obstruction of bladder neck or vesicourethral orifice	http://purl.obolibrary.org/obo/MONDO_0006679	Blockage of the opening between the bladder and the urethra resulting in the reduction or prevention of the urine flow from the bladder into the urethra.	DOID:13948|SNOMEDCT:399072004|UMLS:C0005694|NCIT:C79541|MESH:D001748
MONDO:0004016	pineal region mature teratoma	biolink:Disease	mondo	UMLS:C1335417|NCIT:C6754|DOID:6857		mature teratoma of the pineal area|mature teratoma of pineal area|mature teratoma of the pineal region|pineal area mature teratoma|mature teratoma of pineal region	http://purl.obolibrary.org/obo/MONDO_0004016		NCIT:C6754|UMLS:C1335417|DOID:6857
MONDO:0004015	pineal region teratoma	biolink:Disease	mondo	NCIT:C6753|DOID:6856|UMLS:C1335419		teratoma of the pineal region|teratoma of pineal region|pineal area teratoma|teratoma of the pineal area|teratoma of pineal area	http://purl.obolibrary.org/obo/MONDO_0004015	A mature or immature teratoma that arises in the pineal region.	NCIT:C6753|UMLS:C1335419|DOID:6856
MONDO:0006677	bile reflux	biolink:Disease	mondo	DOID:12237|MESH:D001655|EFO:1000838|UMLS:C0005403			http://purl.obolibrary.org/obo/MONDO_0006677	Retrograde bile flow. Reflux of bile can be from the duodenum to the stomach (duodenogastric reflux); to the esophagus (gastroesophageal reflux); or to the pancreas.	DOID:12237|UMLS:C0005403|MESH:D001655
MONDO:0004018	obsolete liver carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004018	A carcinoma that involves the liver.	
MONDO:0006678	bladder calculus	biolink:Disease	mondo	MedDRA:10005001|EFO:1000839|UMLS:C0005683|DOID:11355|SCTID:70650003|ICD9:594.1|MESH:D001744|ICD10:N21.0			http://purl.obolibrary.org/obo/MONDO_0006678	A concretion in the urinary bladder.	DOID:11355|UMLS:C0005683|NCIT:C26707|SNOMEDCT:70650003|MESH:D001744
MONDO:0004017	pineal region immature teratoma	biolink:Disease	mondo	NCIT:C6755|UMLS:C1335416|DOID:6858		immature teratoma of the pineal area|immature teratoma of pineal area|atypical pineal teratoma|pineal area immature teratoma|immature teratoma of the pineal region|immature teratoma of pineal region	http://purl.obolibrary.org/obo/MONDO_0004017		NCIT:C6755|UMLS:C1335416|DOID:6858
NCBITaxon:116706	Heterotremata	organism taxon	mondo	GC_ID:1		Brachyrhyncha	http://purl.obolibrary.org/obo/NCBITaxon_116706		
MONDO:0004012	adult botryoid rhabdomyosarcoma	biolink:Disease	mondo	UMLS:C1332185|NCIT:C36099|DOID:6847		botryoid rhabdomyosarcoma of adults|adult botryoid sarcoma|adult botryoid-type embryonal rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0004012	A morphologic variant of embryonal rhabdomyosarcoma occurring in adults. The neoplasm arises from organs containing a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma.	NCIT:C36099|UMLS:C1332185|DOID:6847
MONDO:0006675	obsolete benign monoclonal gammopathy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006675		
MONDO:0006676	beriberi	biolink:Disease	mondo	MedDRA:10004482|SCTID:36656008|MESH:D001602|ICD10:E51.11|EFO:1000837|ICD9:265.0|COHD:434620|ICD10:E51.1|UMLS:C0005122|DOID:0070313|GARD:0009948|NCIT:C34418|DOID:13725	gard_rare	vitamin B1 deficiency|thiamine deficiency|Beri Beri	http://purl.obolibrary.org/obo/MONDO_0006676	Beriberi is a condition that occurs in people who are deficient in thiamine (vitamin B1). There are two major types of beriberi: wet beriberi which affects the cardiovascular system and dry beriberi which affects the nervous system. People with wet beriberi may experience increased heart rate, shortness of breath, and swelling of the lower legs. Signs and symptoms of dry beriberi include difficulty walking; loss of feeling in the hands and/or feet; paralysis of the lower legs; mental confusion; speech difficulty; pain; and/or vomiting. Beriberi is rare in the United States since many foods are now vitamin enriched; however, alcohol abuse, dialysis and taking high doses of diuretics increases the risk of developing the condition. In most cases,beriberi occurs sporadically in people with no family history of the condition. A rare condition known as genetic beriberi is inherited (passed down through families) and is associated with an inability to absorb thiamine from foods. Treatment generally includes thiamine supplementation, given by injection or taken by mouth.	DOID:13725|UMLS:C0005122|SNOMEDCT:36656008|DOID:0070313|MESH:D001602|NCIT:C34418
NCBITaxon:116704	Eubrachyura	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_116704		
MONDO:0004011	obsolete familial melanoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004011		
ECTO:9001718	anti-inflammatory drug exposure	biolink:OntologyClass	mondo			exposure to anti-inflammatory drug	http://purl.obolibrary.org/obo/ECTO_9001718	An exposure to anti-inflammatory drug.	
MONDO:0006673	pituitary gland basophil adenoma	biolink:Disease	mondo	DOID:4542|NCIT:C2856|MESH:D000237|EFO:1000834|UMLS:C0001431|ICDO:8300/0		mucoid cell adenoma|basophilic adenoma|basophil adenoma|pituitary basophilic adenoma|pituitary gland basophilic adenoma|basophilic pituitary gland adenoma	http://purl.obolibrary.org/obo/MONDO_0006673	An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with basic dyes.	NCIT:C2856|UMLS:C0001431|MESH:D000237|DOID:4542
MONDO:0004014	ethmoid sinus ectopic meningioma	biolink:Disease	mondo	DOID:6854|NCIT:C5309|UMLS:C1333475		primary ectopic meningioma of the ethmoidal sinus|ethmoidal sinus primary ectopic meningioma|primary ectopic meningioma of ethmoidal sinus|ethmoid sinus primary ectopic meningioma|primary ectopic meningioma of the ethmoid sinus|primary ectopic meningioma of ethmoid sinus	http://purl.obolibrary.org/obo/MONDO_0004014	An extremely rare meningioma that arises as a primary ectopic tumor in the ethmoid sinus.	NCIT:C5309|UMLS:C1333475|DOID:6854
MONDO:0006674	benign fibrous mesothelioma	biolink:Disease	mondo	UMLS:C0334511|MESH:D054363|DOID:2653		localized benign fibrous mesothelioma|solitary fibrous tumor, pleural|fibrous mesothelioma, benign|fibrous mesothelioma, benign (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0006674	A rare neoplasm, usually benign, derived from mesenchymal fibroblasts located in the submesothelial lining of the PLEURA. It spite of its various synonyms, it has no features of mesothelial cells and is not related to malignant MESOTHELIOMA or asbestos exposure.	DOID:2653|UMLS:C0334511|MESH:D054363
MONDO:0004013	adult vagina botryoid embryonal rhabdomyosarcoma	biolink:Disease	mondo	UMLS:C1515893|DOID:6848|NCIT:C40267		adult sarcoma Botryoides of the vagina|botryoid-type embryonal rhabdomyosarcoma of the vagina of adults|adult vagina botryoid rhabdomyosarcoma|adult botryoid-type embryonal rhabdomyosarcoma of the vagina	http://purl.obolibrary.org/obo/MONDO_0004013	A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma. It occurs in female adults.	NCIT:C40267|UMLS:C1515893|DOID:6848
MONDO:0006671	Bacteroides infectious disease	biolink:Disease	mondo	UMLS:C0004669|EFO:1000832|ICD9:041.84|SCTID:2918000|MESH:D001442		Bacteroides caused disease or disorder|infection, Bacteroides|infection caused by Bacteroides|Bacteroides disease or disorder|Bacteroides infection|infection due to Bacteroides|infections, Bacteroides	http://purl.obolibrary.org/obo/MONDO_0006671	Infections with bacteria of the genus bacteroides.	UMLS:C0004669|MESH:D001442|SNOMEDCT:2918000
MONDO:0006672	balanitis	biolink:Disease	mondo	UMLS:C0004690|ICD10:N48.1|EFO:1000833|NCIT:C26705|DOID:13033|MESH:D001446|SCTID:44882003|MedDRA:10004073		inflammation of glans penis|glans penis inflammation|balanitis	http://purl.obolibrary.org/obo/MONDO_0006672	An infectious or non-infectious inflammatory process that affects the glans penis. Symptoms include redness and pain of the glans penis and foreskin and discharge.	NCIT:C26705|UMLS:C0004690|SNOMEDCT:44882003|MESH:D001446|DOID:13033
MONDO:0004010	infiltrating renal pelvis/ureter urothelial carcinoma	biolink:Disease	mondo	NCIT:C39879|UMLS:C1512750		infiltrating renal pelvis and ureter transitional cell carcinoma|infiltrating renal pelvis and ureter urothelial carcinoma|infiltrating ureter transitional cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0004010		NCIT:C39879|UMLS:C1512750
MONDO:0006670	bacterial meningitis	biolink:Disease	mondo	UMLS:C0085437|ICD10:G00.9|MedDRA:10004049|ICD9:320.7|SCTID:95883001|GARD:0005881|ICD9:320|NCIT:C118297|EFO:1000831|ICD9:320.89|ICD9:320.9|ICD10:G00|COHD:436091|DOID:9470|MESH:D016920	gard_rare	meningitis, bacterial|Bacteria caused infectious meningitis|Bacteria infectious meningitis	http://purl.obolibrary.org/obo/MONDO_0006670	Inflammation of the membranes surrounding the brain and spinal cord due to a bacterial infection.	DOID:9470|NCIT:C118297|MESH:D016920|UMLS:C0085437|SNOMEDCT:95883001
MONDO:0016009	fetal trimethadione syndrome	biolink:Disease	mondo	ICD10:Q86.8|ICD9:759.89|SCTID:66351003|Orphanet:1913|UMLS:C0265373|MESH:C537798	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0016009	Fetal trimethadione syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects.	UMLS:C0265373|MESH:C537798|ORPHA:1913|SNOMEDCT:66351003
ECTO:9001711	antiinfective agent exposure	biolink:OntologyClass	mondo			exposure to antiinfective agent	http://purl.obolibrary.org/obo/ECTO_9001711	An exposure to antiinfective agent.	
ECTO:9001712	antiparasitic agent exposure	biolink:OntologyClass	mondo			exposure to antiparasitic agent	http://purl.obolibrary.org/obo/ECTO_9001712	An exposure to antiparasitic agent.	
MONDO:0018668	scedosporiosis	biolink:Disease	mondo	Orphanet:449280|ICD10:B48.7	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018668		ORPHA:449280
MONDO:0016005	indomethacin embryofetopathy	biolink:Disease	mondo	Orphanet:1909|UMLS:C4275138|SCTID:715430001|UMLS:CN200656|GARD:0002994|ICD10:Q86.8	ordo_malformation_syndrome	fetal indomethacin syndrome|antenatal indomethacin exposure	http://purl.obolibrary.org/obo/MONDO_0016005	Indomethacin embryofetopathy refers to the manifestations that may be observed in a fetus or newborn when the mother has taken indomethacin, a potent prostaglandin inhibitor and tocolytic agent that can cross placenta, during pregnancy. Reported adverse fetal/neonatal effects include decreased renal function resulting in oligohydramnios, closure of the ductus arteriosus, and delayed cardiovascular adaptation at birth. These effects are usually transient and reversible. Indomethacin may also be a risk factor for cerebral injury (periventricular leukomalacia) and necrotizing enterocolitisin preterm infants.	UMLS:C4275138|SNOMEDCT:715430001|ORPHA:1909|UMLS:CN200656
HGNC:14335	PLEKHA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14335		
MONDO:0016006	Cockayne syndrome	biolink:Disease	mondo	NCIT:C9460|GARD:0006122|ICD9:759.89|ICD10:Q87.1|Orphanet:191|MESH:D003057|SCTID:21086008|MedDRA:10009835|UMLS:C0009207|DOID:2962	ordo_disease	dwarfism-retinal atrophy-deafness syndrome|progeria-like syndrome|Neill-Dingwall syndrome|progeroid nanism|Cockayne's syndrome	http://purl.obolibrary.org/obo/MONDO_0016006	Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.	SNOMEDCT:21086008|DOID:2962|MESH:D003057|MEDDRA:10009835|UMLS:C0009207|NCIT:C9460|ORPHA:191
MONDO:0018667	pleural empyema (disease)	biolink:Disease	mondo	ICD10:J86.9|MESH:D016724|HP:0011919|Orphanet:449266|SCTID:405950009|ICD10:J86|DOID:3798	ordo_clinical_situation	abscess of pleural cavity|pyothorax|thorax abscess|purulent pleurisy|purulent pleuritis|empyema of pleura|pleural empyema|abscess of thorax|empyema	http://purl.obolibrary.org/obo/MONDO_0018667	The presence of pus in the thoracic cavity, between the visceral and parietal pleura.	DOID:3798|SNOMEDCT:405950009|MESH:D016724|ORPHA:449266
HGNC:16997	MLLT11	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16997		
MONDO:0016007	cocaine embryofetopathy	biolink:Disease	mondo	SCTID:254250002|Orphanet:1911|UMLS:C0432371|ICD10:Q86.8|GARD:0001413|ICD9:760.75	ordo_malformation_syndrome|gard_rare	prenatal cocaine exposure|cocaine antenatal exposure|cocaine fetopathy|fetal cocaine syndrome	http://purl.obolibrary.org/obo/MONDO_0016007	A group of clinical signs observed in newborns exposed in utero to cocaine, a short-acting central nervous system stimulant used as a recreational drug through inhalation of the powder or intravenous injection. Cocaine use during pregnancy is associated with intrauterine growth restriction, low birth weight, seizures, respiratory distress (decreased apnea density and periodic breathing), feeding difficulties, irritability and lability of state, decreased behavioral and autonomic regulation, poor alertness and orientation and cognitive impairment (impaired auditory information processing , visual-spatial delay and subtle language delay) in the offspring.	ORPHA:1911|UMLS:C0432371|SNOMEDCT:254250002
MONDO:0016008	fetal hydantoin syndrome	biolink:Disease	mondo	SCTID:70065001|ICD10:Q86.1|NCIT:C98927|GARD:0006435|MedDRA:10016508|UMLS:C0265372|ICD9:759.89|Orphanet:1912|MESH:C537922	ordo_malformation_syndrome|gard_rare	fetal dihydantoin syndrome|phenytoin embryofetopathy|phenytoin embryopathy|Dilantin embryopathy	http://purl.obolibrary.org/obo/MONDO_0016008	Fetal hydantoin syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported.	ORPHA:1912|MESH:C537922|SNOMEDCT:70065001|MEDDRA:10016508|NCIT:C98927|UMLS:C0265372
MONDO:0018669	snakebite envenomation	biolink:Disease	mondo	Orphanet:449285|UMLS:CN237735|SCTID:61288004|ICD10:T63.0	ordo_clinical_situation	snake bite poisoning|poisoning caused by venomous snake|poisoning by venomous snake|snake venom causing toxic effect|snake venom poisoning|toxic effect of bite of venomous snake	http://purl.obolibrary.org/obo/MONDO_0018669		UMLS:CN237735|ORPHA:449285|SNOMEDCT:61288004
HGNC:16999	CLP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16999		
MONDO:0018664	ectopia cordis (disease)	biolink:Disease	mondo	ICD9:746.87|HP:0001683|NCIT:C111643|ICD10:Q24.8|Orphanet:448270|SCTID:78250005|MESH:D054083	ordo_morphological_anomaly	ectopia cordis	http://purl.obolibrary.org/obo/MONDO_0018664	A rare congenital anomaly where the heart is formed outside of the thoracic cavity. It is associated with intracardiac lesions and other structural malformations.	NCIT:C111643|SNOMEDCT:78250005|MESH:D054083|ORPHA:448270
MONDO:0016001	2-hydroxyglutaric aciduria	biolink:Disease	mondo	NCIT:C128187|DOID:0050573|SCTID:698870008|UMLS:C2746066|ICD10:E72.8|ICD9:270.8|Orphanet:19|MESH:C535306|GARD:0010761	ordo_group_of_disorders|gard_rare	2-HGA|2-hydroxyglutaric aciduria|2-hydroxyglutaric acidemia	http://purl.obolibrary.org/obo/MONDO_0016001	2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.	UMLS:C2746066|SNOMEDCT:698870008|ORPHA:19|NCIT:C128187|DOID:0050573|MESH:C535306
MONDO:0018663	regressive spondylometaphyseal dysplasia	biolink:Disease	mondo	Orphanet:448267|ICD10:Q77.8|UMLS:CN248525|OMIM:618019	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0018663		UMLS:CN248525|ORPHA:448267|http://identifiers.org/omim/618019
MONDO:0016002	Ehlers-Danlos syndrome, kyphoscoliotic type 1	biolink:Disease	mondo	UMLS:C0268342|UMLS:CN202461|Orphanet:1900|MESH:C536198|OMIM:225400|NCIT:C125700|ICD10:Q79.6|GARD:0002083|SCTID:718211004	ordo_disease	Ehlers-Danlos syndrome, type VIA|EDS 6 (formerly)|kEDS|Ehlers-Danlos syndrome type 6A|Ehlers-Danlos syndrome kyphoscoliotic type|EDS VIA|kyphoscoliotic EDS|EDSKSCL1|nevo syndrome|Ehlers-Danlos syndrome oculoscoliotic type|Ehlers-Danlos syndrome type 6 (formerly)|Ehlers-Danlos syndrome, ocular-scoliotic type|kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency|EDS, kyphoscoliotic type|Ehlers-Danlos syndrome, type 6 A|Ehlers-Danlos syndrome, type Via, formerly|Ehlers-Danlos syndrome, kyphoscoliosis type|Ehlers-Danlos syndrome, oculoscoliotic type|Ehlers-Danlos syndrome, type Via|Ehlers-Danlos syndrome, kyphoscoliotic type|Ehlers-Danlos syndrome, type VI|Ehlers-Danlos syndrome, kyphoscoliotic type, 1; EDSKSCL1|Ehlers-Danlos syndrome type 6A (formerly)|kyphoscoliotic Ehlers-Danlos syndrome|EDS, oculoscoliotic type|Ehlers-Danlos syndrome, kyphoscoliotic type, 1|EDS 6|Ehlers-Danlos syndrome, type VI; EDS6|Ehlers-Danlos syndrome, type 6|EDS6A, formerly|Ehlers-Danlos syndrome, type VIA, formerly|EDS6|EDS VI	http://purl.obolibrary.org/obo/MONDO_0016002	Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.	http://identifiers.org/omim/225400|SNOMEDCT:718211004|NCIT:C125700|UMLS:C0268342|UMLS:CN202461|MESH:C536198|ORPHA:1900
MONDO:0016003	ehrlichiosis	biolink:Disease	mondo	ICD10:A77.4|ICD9:082.4|SCTID:240626005|UMLS:C0085399|Orphanet:1902|DOID:10242|COHD:438342|ICD10:A48.8|GARD:0002092|MESH:D016873|ICD9:082.40|ICD10:A77.40	ordo_disease	human ehrlichiosis	http://purl.obolibrary.org/obo/MONDO_0016003	Human ehrlichiosis and anaplasmosis describe a group of acute febrile tick-borne diseases characterized by an overlapping clinical picture that includes fever, headache, myalgias, arthralgias, skin eruptions, gastrointestinal symptoms and neurological manifestations. Diseases in this group include human monocytotropic ehrlichiosis (HME), human granulocytotropic anaplasmosis (HGA), and human ehrlichiosis ewingii (HEE).	DOID:10242|MESH:D016873|UMLS:C0085399|SNOMEDCT:240626005|ORPHA:1902
MONDO:0018666	hepatoblastoma	biolink:Disease	mondo	DOID:687|MESH:D018197|ICD10:C22.2|EFO:1000292|GARD:0002657|MedDRA:10062001|UMLS:C0206624|NCIT:C3728|ICDO:8970/3|ONCOTREE:LIHB|Orphanet:449	ordo_disease	HBL|hepatoblastoma, malignant|pediatric hepatoblastoma|hepatoblastoma|pediatric embryonal hepatoma	http://purl.obolibrary.org/obo/MONDO_0018666	Hepatoblastoma (HB) is a malignant hepatic tumor and is the most common pediatric liver cancer. It is characterized by anorexia, weight loss and an enlarged abdomen. HB is more common in patients with familial adenomatous polyposis (FAP), and can occur in patients with other pre-existing liver conditions. About 5% of HB cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy.	MESH:D018197|NCIT:C3728|DOID:687|ORPHA:449|MEDDRA:10062001|UMLS:C0206624
MONDO:0018665	X-linked acrogigantism due to a point mutation	biolink:Disease	mondo	ICD10:E22.0|Orphanet:448348|UMLS:CN237730	ordo_etiological_subtype	familial infantile gigantism due to a point mutation|X-LAG (X-linked acrogigantism) due to a point mutation	http://purl.obolibrary.org/obo/MONDO_0018665		ORPHA:448348|UMLS:CN237730
MONDO:0016004	aminopterin/methotrexate embryofetopathy	biolink:Disease	mondo	Orphanet:1908|SCTID:65986000|ICD9:759.89|GARD:0002294|MedDRA:10071183|ICD10:Q86.8|UMLS:C0432367|NCIT:C98928	ordo_malformation_syndrome|gard_rare	aminopterin syndrome|fetal aminopterin syndrome|aminopterin embryopathy syndrome|aminopterin fetopathy syndrome|fetal methotrexate syndrome	http://purl.obolibrary.org/obo/MONDO_0016004	Aminopterin/Methotrexate embryofetopathy is a syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy.	SNOMEDCT:65986000|UMLS:C0432367|NCIT:C98928|MEDDRA:10071183|ORPHA:1908
NCBITaxon:33677	Acanthamoebidae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_33677		
MONDO:0018660	hemophilia	biolink:Disease	mondo	NCIT:C3093|MedDRA:10061992|SCTID:90935002|UMLS:C0684275|Orphanet:448|GARD:0010418	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018660	Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency.	MEDDRA:10061992|NCIT:C3093|ORPHA:448|UMLS:C0684275|SNOMEDCT:90935002
MONDO:0018662	autosomal recessive brachyolmia	biolink:Disease	mondo	Orphanet:448242|UMLS:CN237725|ICD10:Q76.3	ordo_malformation_syndrome	brachyolmia, Hobaek/Toledo type|brachyolmia, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0018662	Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur.	ORPHA:448242|UMLS:CN237725
MONDO:0018661	Zika virus infectious disease	biolink:Disease	mondo	Orphanet:448237|ICD10:U06|ICD10:A92.5|ICD10:A92.8|SCTID:3928002|UMLS:CN237724|DOID:0060478|NCIT:C128423|MESH:D000071243|UMLS:C0276289|GARD:0012894	ordo_disease|gard_rare	Zika virus disease or disorder|fever, Zika|congenital Zika virus infection|congenital Zika syndrome|Zika virus infection|Zika virus infectious disease|Zika fever|Zika virus caused disease or disorder|Zika|ZikV infection|Zika virus disease	http://purl.obolibrary.org/obo/MONDO_0018661	Mosquito-born virus disease characterized by a clinical course that may be asymptomatic or mild with fever, conjunctivitis, muscle and joint pain, headache, exanthema, but may also be associated with severe neurological (meningitis, meningoencephalitis and myelitis) and auto-immune (Guillain-Barre syndrome) complications, as well as a potential increase of birth defects (microcephaly) if the infection occurs during pregnancy.	DOID:0060478|SNOMEDCT:3928002|ORPHA:448237|NCIT:C128423|MESH:D000071243|UMLS:C0276289|UMLS:CN237724
MONDO:0016000	familial isolated hypoparathyroidism due to impaired PTH secretion	biolink:Disease	mondo	UMLS:CN200646|ICD10:E20.8|Orphanet:189466	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0016000		ORPHA:189466|UMLS:CN200646
MONDO:0004027	obsolete embryonal cancer	biolink:Disease	mondo			embryo neoplasm|embryonal neoplasm	http://purl.obolibrary.org/obo/MONDO_0004027	A germ cell cancer that is associated with an embryo.	
MONDO:0004026	skin tag	biolink:Disease	mondo	SCTID:201091002|DOID:6873|UMLS:C0037293|NCIT:C3374		cutaneous fibroepithelial polyp|cutaneous tag|fibroepithelial polyp of the skin|fibroepithelial polyp|soft fibroma|fibroepithelial polyp of skin|acrochordon|fibroma molle	http://purl.obolibrary.org/obo/MONDO_0004026	A small, benign growth that arises from the skin. It is characterized by the presence of fibrovascular tissue lined by epidermis. It may be sessile or pendulous and usually occurs in sites where there is friction.	SNOMEDCT:201091002|NCIT:C3374|DOID:6873|UMLS:C0037293
MONDO:0006688	byssinosis	biolink:Disease	mondo	MedDRA:10006822|SCTID:13151001|MESH:D002095|ICD9:504|UMLS:C2242894|ICD10:J66.0|DOID:10323|EFO:1000851|UMLS:C0006542|NCIT:C84605|GARD:0005976	gard_rare	pneumoconiosis from cotton dust|cotton dust pneumoconiosis|stripper's asthma|flax-dressers' disease|cotton mill fever|Monday morning fever	http://purl.obolibrary.org/obo/MONDO_0006688	An occupational lung disorder caused by exposure to cotton dust. It occurs more commonly in workers in the textile industry. Signs and symptoms include chest tightness, cough and wheezing. The symptoms tend to get worse at the beginning of the week and subside by the end of the week.	SNOMEDCT:13151001|UMLS:C0006542|DOID:10323|NCIT:C84605|MESH:D002095|UMLS:C2242894
MONDO:0004029	obsolete ureter small cell carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004029		
MONDO:0006689	carcinoid syndrome	biolink:Disease	mondo	ICD10:E34.0|OMIM:114900|COHD:199771|ICD9:259.2|GARD:0005994|Orphanet:100093|EFO:1000852|SCTID:35868009|NCIT:C3215|MedDRA:10007270	ordo_clinical_syndrome|gard_rare	carcinoid syndrome|carcinoid tumors, intestinal|carcinoid tumor syndrome|malignant carcinoid syndrome	http://purl.obolibrary.org/obo/MONDO_0006689	A paraneoplastic syndrome comprising the signs and symptoms that occur secondary to carcinoid tumors. The syndrome includes flushing and diarrhea, and less frequently, heart failure, emesis and bronchoconstriction. It is caused by endogenous secretion of mainly serotonin and kallikrein.	ORPHA:100093|NCIT:C3215|http://identifiers.org/omim/114900|SNOMEDCT:35868009
MONDO:0004028	small intestinal fibrosarcoma	biolink:Disease	mondo	DOID:6880|NCIT:C5336|UMLS:C1335994		fibrosarcoma of small bowel|small bowel fibrosarcoma|fibrosarcoma of the small intestine|fibrosarcoma of small intestine|fibrosarcoma, small intestine|small intestine fibrosarcoma (disease)|small intestine fibrosarcoma|fibrosarcoma of the small bowel|small intestinal fibrosarcoma	http://purl.obolibrary.org/obo/MONDO_0004028	A usually aggressive malignant neoplasm arising from the small intestine. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.	NCIT:C5336|UMLS:C1335994|DOID:6880
MONDO:0006686	brain stem infarction	biolink:Disease	mondo	MESH:D020526|EFO:1000847|UMLS:C0521542|ICD9:434.91|SCTID:95457000|DOID:3523		brainstem infarction NOS|brain infarction of brainstem|brainstem infarction|brainstem brain infarction	http://purl.obolibrary.org/obo/MONDO_0006686	Infarctions that occur in the brain stem which is comprised of the midbrain; pons; and medulla oblongata. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury.	UMLS:C0521542|MESH:D020526|SNOMEDCT:95457000|DOID:3523
MONDO:0004023	obsolete hepatoblastoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004023		
MONDO:0006687	burning mouth syndrome	biolink:Disease	mondo	Orphanet:353253|MESH:D002054|UMLS:C2930806|MedDRA:10068065|NCIT:C62545|DOID:4331|EFO:1000850|UMLS:CN242089|ICD10:K14.6|SCTID:399165002|UMLS:C0006430|GARD:0005974	ordo_disease	BMS|Stomatopyrosis|stomatodynia|oral dysesthesia|Orodynia	http://purl.obolibrary.org/obo/MONDO_0006687	A condition characterized by a burning or tingling sensation on the lips, tongue, or entire mouth.	UMLS:C0006430|ORPHA:353253|MESH:D002054|UMLS:C2930806|UMLS:CN242089|DOID:4331|SNOMEDCT:399165002|NCIT:C62545
MONDO:0004022	parasagittal meningioma	biolink:Disease	mondo	UMLS:C0751304|NCIT:C4960|DOID:6869			http://purl.obolibrary.org/obo/MONDO_0004022	A meningioma that affects the superior sagittal sinus and invades the parasagittal angle.	NCIT:C4960|DOID:6869|UMLS:C0751304
HGNC:28984	WASHC5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28984		
MONDO:0004025	obsolete spinal cord embryonal tumor, not otherwise specified	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0004025		
MONDO:0006684	brain edema	biolink:Disease	mondo	EFO:1000845|ICD9:348.5|DOID:4724|MedDRA:10006121|MESH:D001929|SCTID:2032001		wet brain|intracranial swelling	http://purl.obolibrary.org/obo/MONDO_0006684	Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see hypoxia, brain). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of csf flow (e.g., obstructive hydrocephalus). (From Childs Nerv Syst 1992 Sep; 8(6):301-6)	SNOMEDCT:2032001|MESH:D001929|DOID:4724
MONDO:0006685	brain hypoxia - ischemia	biolink:Disease	mondo	EFO:1000846|MESH:D020925			http://purl.obolibrary.org/obo/MONDO_0006685	A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ischemia) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ischemic attack, transient; brain infarction; brain edema; coma; and other conditions.	MESH:D020925
MONDO:0004024	spinal cord neuroblastoma	biolink:Disease	mondo	DOID:6871|NCIT:C5155|UMLS:C1336046		spinal cord neuroblastoma|neuroblastoma of the spinal cord|neuroblastoma of spinal cord	http://purl.obolibrary.org/obo/MONDO_0004024	A neuroblastoma that affects the spinal cord.	UMLS:C1336046|NCIT:C5155|DOID:6871
HGNC:28986	ZNF592	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28986		
MONDO:0006682	brachial plexus neuritis	biolink:Disease	mondo	MESH:D020968|EFO:1000843|ICD10:G54.5|NCIT:C84600|GARD:0004228|ICD9:723.4|MedDRA:10073002|DOID:3689|SCTID:72893007	gard_rare	acute brachial neuritis syndrome|brachial nerve plexus neuritis|idiopathic neuralgic amyotrophy|acute brachial neuritis|brachial neuritis|acute shoulder neuritis|acute brachial radiculitis syndrome|neuritis of brachial nerve plexus|parsonage-Aldren-Turner syndrome|parsonage Turner syndrome	http://purl.obolibrary.org/obo/MONDO_0006682	An inflammatory process affecting the brachial plexus. It results in severe pain in the upper extremity and shoulder, upper arm weakness and loss of sensation in the upper arm.	SNOMEDCT:72893007|NCIT:C84600|MESH:D020968|DOID:3689
MONDO:0006683	brachial plexus neuropathy	biolink:Disease	mondo	SCTID:3548001|ICD9:353.0|EFO:1000844|NCIT:C27194|DOID:3690|UMLS:C0700251|MESH:D020516|COHD:378741|ICD10:G54.0		brachial nerve plexus peripheral neuropathy|brachial plexus disorder|brachial plexopathy|peripheral neuropathy of brachial nerve plexus	http://purl.obolibrary.org/obo/MONDO_0006683	A brachial plexus disorder characterized by regional paresthesia, pain and muscle weakness, and limited movement in the arm or hand.	SNOMEDCT:3548001|MESH:D020516|UMLS:C0700251|NCIT:C27194|DOID:3690
MONDO:0006680	blue nevus	biolink:Disease	mondo	NCIT:C3803|MedDRA:10062788|GARD:0008452|EFO:1000841|ICDO:8780/0|MESH:D018329|SCTID:254806009	gard_rare	Jadassohn-TiC(che syndrome|Jadassohn-TiC(che nevus|Jadassohn-Tièche nevus|benign mesenchymal melanoma|blue skin Nevus|Tièche-Jadassohn nevus|blue nevus|blue Nevus of skin|blue Nevus of the skin|blue neuronevus|Jadassohn-Tièche syndrome	http://purl.obolibrary.org/obo/MONDO_0006680	An intradermal nevus characterized by the presence of benign pigmented dendritic spindle-shaped melanocytes. It most frequently occurs in the skin of the distal upper extremities, followed by the lower extremities, scalp, face, and buttocks. It usually presents as a single blue or blue-black papular lesion less than 1cm in diameter. Simple excision is usually curative.	NCIT:C3803|SNOMEDCT:254806009|MESH:D018329
MONDO:0004021	mediastinal malignant lymphoma	biolink:Disease	mondo	NCIT:C6633|UMLS:C1334665|DOID:6868		lymphoma of the mediastinum|lymphoma of mediastinum|mediastinal malignant lymphoma|mediastinal lymphoma|mediastinum lymphoma|primary mediastinal lymphoma	http://purl.obolibrary.org/obo/MONDO_0004021	A lymphoma that arises from the mediastinum. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma.	NCIT:C6633|UMLS:C1334665|DOID:6868
MONDO:0004020	mediastinal gray zone lymphoma	biolink:Disease	mondo	NCIT:C37870|UMLS:C1334657|DOID:6867		mediastinal Gray zone lymphoma|mediastinal B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and classical Hodgkin lymphoma|mediastinal B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and Classic Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0004020	A mediastinal lymphoma with molecular, morphologic, immunophenotypic, and clinical features of both mediastinal (thymic) large B-cell lymphoma and classical Hodgkin lymphoma. The identification of this group of lymphomas, along with recent gene expression profiling results (PDL2 gene expression in both mediastinal (thymic) large B-cell lymphoma tissues and Hodgkin lymphoma cell lines), further supports the hypothesis that mediastinal (thymic) large B-cell lymphomas and classical Hodgkin lymphomas are related entities.	NCIT:C37870|UMLS:C1334657|DOID:6867
MONDO:0006681	Borrelia infectious disease	biolink:Disease	mondo	EFO:1000842|MESH:D001899|UMLS:C0006035|MedDRA:10061591		Borrelia caused disease or disorder|Borrelia disease or disorder	http://purl.obolibrary.org/obo/MONDO_0006681	Infections with bacteria of the genus borrelia.	MESH:D001899|UMLS:C0006035
MONDO:0018657	pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome	biolink:Disease	mondo	Orphanet:447961|UMLS:CN237716|OMIM:618373	ordo_disease	CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA; CAPOK	http://purl.obolibrary.org/obo/MONDO_0018657		UMLS:CN237716|http://identifiers.org/omim/618373|ORPHA:447961
MONDO:0018656	tremor-ataxia-central hypomyelination syndrome	biolink:Disease	mondo	ICD10:E75.2|Orphanet:447896|UMLS:CN237714	ordo_disease	tach syndrome	http://purl.obolibrary.org/obo/MONDO_0018656		UMLS:CN237714|ORPHA:447896
MONDO:0018659	partial duplication of the short arm of chromosome 19	biolink:Disease	mondo	Orphanet:447985	ordo_group_of_disorders	partial trisomy of chromosome 19p|partial trisomy of the short arm of chromosome 19|partial duplication of chromosome 19p|partial duplication of the short arm of chromosome type 19	http://purl.obolibrary.org/obo/MONDO_0018659		ORPHA:447985
HGNC:14348	HTRA2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14348		
MONDO:0018658	19p13.3 microduplication syndrome	biolink:Disease	mondo	UMLS:CN237720|ICD10:Q92.3|Orphanet:447980	ordo_malformation_syndrome	dup(19)(p13.13)	http://purl.obolibrary.org/obo/MONDO_0018658	19p13.3 microduplication syndrome is a rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features.	UMLS:CN237720|ORPHA:447980
MONDO:0018653	Polymerase proofreading-related adenomatous polyposis	biolink:Disease	mondo	Orphanet:447877|NCIT:C162484|ICD10:D12.6	ordo_clinical_subtype	PPAP	http://purl.obolibrary.org/obo/MONDO_0018653		ORPHA:447877|NCIT:C162484
MONDO:0018652	biological anomaly without phenotypic characterization	biolink:Disease	mondo	Orphanet:447874	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018652		ORPHA:447874
MONDO:0018655	hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome	biolink:Disease	mondo	Orphanet:447893|UMLS:CN237713|ICD10:E75.2	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018655		UMLS:CN237713|ORPHA:447893
HGNC:14344	C1QTNF5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14344		
MONDO:0018654	idiopathic dropped head syndrome	biolink:Disease	mondo	Orphanet:447881|UMLS:CN237712	ordo_clinical_syndrome	isolated neck extensor myopathy	http://purl.obolibrary.org/obo/MONDO_0018654		UMLS:CN237712|ORPHA:447881
MONDO:0018651	lipoyl transferase 2 deficiency	biolink:Disease	mondo	Orphanet:447795	ordo_biological_anomaly		http://purl.obolibrary.org/obo/MONDO_0018651		ORPHA:447795
MONDO:0018650	obsolete hemochromatosis type 5	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0018650		
HGNC:14341	EDARADD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14341		
HGNC:1618	CCT5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1618		
HGNC:28958	NUP93	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28958		
CHEBI:48854	sulfurous acid	biolink:ChemicalSubstance	mondo			dihydroxidooxidosulfur|sulphurous acid|Sulfurous acid|Sulfite|sulfurous acid|H2SO3|S(O)(OH)2|[SO(OH)2]|acide sulfureux|schweflige Saeure|dihydrogen trioxosulfate|acido sulfuroso|trioxosulfuric acid	http://purl.obolibrary.org/obo/CHEBI_48854		
CHEBI:22221	acyl group	biolink:ChemicalSubstance	mondo			acyl groups|alkanoyl|acyl group|groupe acyle|alkanoyl group	http://purl.obolibrary.org/obo/CHEBI_22221	An organic group formed by removing one or more hydroxy groups from an oxoacid that has the general structure RkE(=O)l(OH)m (l =/= 0). Although the term is almost always applied to organic compounds, with carboxylic acid as the oxoacid, acyl groups can in principle be derived from other types of acids such as sulfonic acids or phosphonic acids.	
UBERON:0003449	tail intervertebral disc	biolink:AnatomicalEntity	mondo			intervertebral disc of post-ventral region|intervertebral disc of tail|tail intervertebral disk|tail spinal disc|intervertebral disk of post-ventral region|intervertebral disk of tail	http://purl.obolibrary.org/obo/UBERON_0003449	An intervertebral disk that is part of a tail [Automatically generated definition].	
HGNC:28956	GPD1L	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28956		
HGNC:28957	EMC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28957		
GO:0045598	regulation of fat cell differentiation	biolink:OntologyClass	mondo			regulation of adipocyte differentiation|regulation of adipocyte cell differentiation	http://purl.obolibrary.org/obo/GO_0045598	Any process that modulates the frequency, rate or extent of adipocyte differentiation.	
GO:0045599	negative regulation of fat cell differentiation	biolink:OntologyClass	mondo			negative regulation of adipocyte differentiation|downregulation of fat cell differentiation|down regulation of fat cell differentiation|inhibition of fat cell differentiation|down-regulation of fat cell differentiation|negative regulation of adipocyte cell differentiation	http://purl.obolibrary.org/obo/GO_0045599	Any process that stops, prevents, or reduces the frequency, rate or extent of adipocyte differentiation.	
GO:0045596	negative regulation of cell differentiation	biolink:OntologyClass	mondo			downregulation of cell differentiation|down regulation of cell differentiation|inhibition of cell differentiation|down-regulation of cell differentiation	http://purl.obolibrary.org/obo/GO_0045596	Any process that stops, prevents, or reduces the frequency, rate or extent of cell differentiation.	
GO:0045597	positive regulation of cell differentiation	biolink:OntologyClass	mondo			stimulation of cell differentiation|up regulation of cell differentiation|up-regulation of cell differentiation|activation of cell differentiation|upregulation of cell differentiation	http://purl.obolibrary.org/obo/GO_0045597	Any process that activates or increases the frequency, rate or extent of cell differentiation.	
GO:0045595	regulation of cell differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0045595	Any process that modulates the frequency, rate or extent of cell differentiation, the process in which relatively unspecialized cells acquire specialized structural and functional features.	
UBERON:0003458	neck bone	biolink:AnatomicalEntity	mondo			neck (volume) bone organ|bone organ of neck|neck (volume) bone|bone of neck|bone of neck (volume)|bone organ of neck (volume)|neck bone organ	http://purl.obolibrary.org/obo/UBERON_0003458	A bone that is part of a neck [Automatically generated definition].	
UBERON:0003459	chest bone	biolink:AnatomicalEntity	mondo			bone organ of anterolateral part of thorax|anterior thoracic region bone organ|bone of anterolateral part of thorax|anterior thoracic region bone|anterolateral part of thorax bone organ|bone organ of anterior thoracic region|anterolateral part of thorax bone|bone of anterior thoracic region|front of thorax bone organ|chest bone organ|bone of chest|front of thorax bone|bone organ of chest|bone of front of thorax|bone organ of front of thorax	http://purl.obolibrary.org/obo/UBERON_0003459	A bone that is part of a chest [Automatically generated definition].	
UBERON:0003456	respiratory system lymphatic vessel	biolink:AnatomicalEntity	mondo			lymph vessel of respiratory system|respiratory system lymph vessel|apparatus respiratorius lymphatic vessel|lymph vessel of apparatus respiratorius|apparatus respiratorius lymph vessel|lymphatic vessel of apparatus respiratorius|lymphatic vessel of respiratory system	http://purl.obolibrary.org/obo/UBERON_0003456	A lymphatic vessel that is part of a respiratory system [Automatically generated definition].	
HGNC:16974	SRCAP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16974		
HGNC:14312	CRIPT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14312		
UBERON:0003457	head bone	biolink:AnatomicalEntity	mondo			head bone organ|bone organ of adult head|bone of adult head|craniofacial bone|adult head bone organ|bone organ of head|adult head bone|bone of head	http://purl.obolibrary.org/obo/UBERON_0003457	A bone that is part of a head [Automatically generated definition].	
HGNC:16973	PPP1R17	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16973		
UBERON:0003455	inner renal medulla loop of Henle	biolink:AnatomicalEntity	mondo			loop of Henle, inner medullary portion|kidney inner medulla loop of Henle	http://purl.obolibrary.org/obo/UBERON_0003455	A loop of Henle that is part of a inner medulla of kidney [Automatically generated definition].	
GO:0008614	pyridoxine metabolic process	biolink:OntologyClass	mondo			pyridoxine metabolism	http://purl.obolibrary.org/obo/GO_0008614	The chemical reactions and pathways involving pyridoxine, 2-methyl-3-hydroxy-4,5-bis(hydroxymethyl)pyridine, one of the vitamin B6 compounds. Pyridoxal, pyridoxamine and pyridoxine are collectively known as vitamin B6, and are efficiently converted to the biologically active form of vitamin B6, pyridoxal phosphate.	
UBERON:0003438	iris nerve	biolink:AnatomicalEntity	mondo			nerve of iris|ciliary nerve	http://purl.obolibrary.org/obo/UBERON_0003438	Any nerve that innervates the iris.	
UBERON:0003439	nerve of trunk region	biolink:AnatomicalEntity	mondo			nerve of trunk|nerve of torso|torso nerve|trunk nerve	http://purl.obolibrary.org/obo/UBERON_0003439	A nerve that is part of the trunk region of the body (not to be confused with a nerve trunk).	
GO:0008611	ether lipid biosynthetic process	biolink:OntologyClass	mondo			ether lipid anabolism|ether lipid synthesis|ether lipid biosynthesis|plasmalogen biosynthetic process|ether lipid formation	http://purl.obolibrary.org/obo/GO_0008611	The chemical reactions and pathways resulting in the formation of ether lipids, lipids that contain (normally) one lipid alcohol in ether linkage to one of the carbon atoms (normally C-1) of glycerol.	
GO:0008610	lipid biosynthetic process	biolink:OntologyClass	mondo			lipid synthesis|lipid formation|lipid biosynthesis|lipogenesis|lipid anabolism	http://purl.obolibrary.org/obo/GO_0008610	The chemical reactions and pathways resulting in the formation of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent.	
UBERON:0015420	ureteral valve	biolink:AnatomicalEntity	mondo			valve or ureter|ureteral valve	http://purl.obolibrary.org/obo/UBERON_0015420	A valve that is part of a ureter.	
UBERON:0015423	hilar portion of hepatic duct	biolink:AnatomicalEntity	mondo			hilar part of hepatic duct	http://purl.obolibrary.org/obo/UBERON_0015423	The segment of either hepatic duct located in the hilum of the liver.	
HGNC:26300	ODAPH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26300		
UBERON:0003440	limb nerve	biolink:AnatomicalEntity	mondo			nerve of limb	http://purl.obolibrary.org/obo/UBERON_0003440	A nerve that is part of a limb [Automatically generated definition].	
NCBITaxon:9443	Primates	organism taxon	mondo	GC_ID:1		Primata|primates|primate	http://purl.obolibrary.org/obo/NCBITaxon_9443		
UBERON:0015418	urethra mesenchymal layer	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015418	A mesenchyme that is part of a urethra.	
UBERON:0003447	digit nerve of manus	biolink:AnatomicalEntity	mondo			digitus manus nerve|nerve of finger|nerve of digit of terminal segment of free upper limb|hand digit nerve|nerve of terminal segment of free upper limb digit|terminal segment of free upper limb digit nerve|finger nerve|nerve of digit of hand|nerve of digitus manus|digit of terminal segment of free upper limb nerve|nerve of hand digit|digit of hand nerve	http://purl.obolibrary.org/obo/UBERON_0003447	A nerve that is part of a finger [Automatically generated definition].	
HGNC:1632	CD164	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1632		
UBERON:0003448	manus nerve	biolink:AnatomicalEntity	mondo			hand nerve|nerve of manus|nerve of hand	http://purl.obolibrary.org/obo/UBERON_0003448	A nerve that is part of a manus [Automatically generated definition].	
HGNC:1633	CD19	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1633		
UBERON:0003445	pes nerve	biolink:AnatomicalEntity	mondo			foot nerve|nerve of foot	http://purl.obolibrary.org/obo/UBERON_0003445	A nerve that is part of a foot [Automatically generated definition].	
HGNC:1630	CD151	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1630		
UBERON:0003446	ankle nerve	biolink:AnatomicalEntity	mondo			neural network of ankle|tarsal region nerve|nerve of ankle	http://purl.obolibrary.org/obo/UBERON_0003446	A nerve that is part of an ankle [Automatically generated definition].	
UBERON:0003443	thoracic cavity nerve	biolink:AnatomicalEntity	mondo			cavity of chest nerve|pectoral cavity nerve|nerve of chest cavity|cavity of thorax nerve|nerve of cavity of thorax|nerve of thoracic cavity|chest cavity nerve|nerve of cavity of chest|nerve of pectoral cavity	http://purl.obolibrary.org/obo/UBERON_0003443	A nerve that is located in a thoracic cavity [Automatically generated definition].	
UBERON:0003444	pelvis nerve	biolink:AnatomicalEntity	mondo			nerve of pelvis	http://purl.obolibrary.org/obo/UBERON_0003444	A nerve that is part of a pelvis [Automatically generated definition].	
UBERON:0003441	forelimb nerve	biolink:AnatomicalEntity	mondo			wing nerve|nerve of superior member|nerve of upper extremity|nerve of fore limb|nerve of forelimb|fore limb nerve	http://purl.obolibrary.org/obo/UBERON_0003441	A nerve that is part of a forelimb [Automatically generated definition].	
UBERON:0003442	hindlimb nerve	biolink:AnatomicalEntity	mondo			nerve of hindlimb|nerve of inferior member|nerve of hind limb|hind limb nerve|nerve of lower extremity	http://purl.obolibrary.org/obo/UBERON_0003442	A nerve that is part of a hindlimb [Automatically generated definition].	
HGNC:16980	CFHR3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16980		
UBERON:0003429	abdomen nerve	biolink:AnatomicalEntity	mondo			nerve of abdomen	http://purl.obolibrary.org/obo/UBERON_0003429	A nerve that is part of an abdomen [Automatically generated definition].	
CHEBI:24867	monoatomic ion	biolink:ChemicalSubstance	mondo			monoatomic ions	http://purl.obolibrary.org/obo/CHEBI_24867		
CHEBI:24866	salt	biolink:ChemicalSubstance	mondo			sal|salts|Salz|sales|sel|ionic compounds|salt|ionic compound|Salze|sels	http://purl.obolibrary.org/obo/CHEBI_24866	A salt is an assembly of cations and anions.	
UBERON:0003427	abdominal fat pad	biolink:AnatomicalEntity	mondo			abdominal fat depot|abdomen fat pad|fat pad of abdomen	http://purl.obolibrary.org/obo/UBERON_0003427	The encapsulated adipose tissue in the abdomen.	
UBERON:0003428	gonadal fat pad	biolink:AnatomicalEntity	mondo			gonadal fat depot|gonadal fat pad|fat pad of gonads|gonad-associated fat pad|gonad fat pad|fat pad of gonad	http://purl.obolibrary.org/obo/UBERON_0003428	The encapsulated adipose tissue associated with the ovaries or testes.	
UBERON:0015410	heart plus pericardium	biolink:AnatomicalEntity	mondo			heart/pericardium	http://purl.obolibrary.org/obo/UBERON_0015410		
CHEBI:36841	11-hydroxy steroid	biolink:ChemicalSubstance	mondo			11-hydroxy steroids	http://purl.obolibrary.org/obo/CHEBI_36841		
HGNC:16950	STAMBP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16950		
UBERON:0003436	shoulder nerve	biolink:AnatomicalEntity	mondo			nerve of shoulder	http://purl.obolibrary.org/obo/UBERON_0003436	A nerve that is part of a shoulder [Automatically generated definition].	
UBERON:0003437	eyelid nerve	biolink:AnatomicalEntity	mondo			nerve of blepharon|blepharon nerve|nerve of eyelid|palpebral nerve	http://purl.obolibrary.org/obo/UBERON_0003437	A nerve that innervates an eyelid.	
UBERON:0003434	wrist nerve	biolink:AnatomicalEntity	mondo			nerve of wrist|nerve of carpal region|carpal region nerve	http://purl.obolibrary.org/obo/UBERON_0003434	A nerve that is part of a wrist [Automatically generated definition].	
HGNC:1641	CD209	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1641		
UBERON:0003435	pedal digit nerve	biolink:AnatomicalEntity	mondo			nerve of foot digit|digit of foot nerve|digitus pedis nerve|foot digit nerve|nerve of digit of terminal segment of free lower limb|nerve of toe|nerve of terminal segment of free lower limb digit|foot digit nerve|terminal segment of free lower limb digit nerve|toe nerve|hind limb digit nerve|digit of terminal segment of free lower limb nerve|nerve of digitus pedis|nerve of digit of foot	http://purl.obolibrary.org/obo/UBERON_0003435	A nerve that is part of a toe [Automatically generated definition].	
UBERON:0003432	chest nerve	biolink:AnatomicalEntity	mondo			nerve of chest|nerve of front of thorax|nerve of anterior thoracic region|front of thorax nerve|anterolateral part of thorax nerve|anterior thoracic region nerve|nerve of anterolateral part of thorax	http://purl.obolibrary.org/obo/UBERON_0003432	A nerve that is part of a chest [Automatically generated definition].	
HGNC:28929	KRT74	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28929		
UBERON:0003433	arm nerve	biolink:AnatomicalEntity	mondo			nerve of arm|nerve of brachial region|brachial region nerve	http://purl.obolibrary.org/obo/UBERON_0003433	A nerve that is part of an arm [Automatically generated definition].	
UBERON:0003430	neck nerve	biolink:AnatomicalEntity	mondo			nerve of neck (volume)|nerve of neck|neck (volume) nerve	http://purl.obolibrary.org/obo/UBERON_0003430	A nerve that is part of a neck [Automatically generated definition].	
UBERON:0003431	leg nerve	biolink:AnatomicalEntity	mondo			nerve of leg	http://purl.obolibrary.org/obo/UBERON_0003431	A nerve that is part of a leg [Automatically generated definition].	
CHEBI:24873	iron molecular entity	biolink:ChemicalSubstance	mondo			iron molecular entity|iron compounds|iron molecular entities	http://purl.obolibrary.org/obo/CHEBI_24873		
FOODON:03412972	food additive	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03412972		
HGNC:28949	IQCB1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28949		
UBERON:0003418	mesenchyme of submandibular gland	biolink:AnatomicalEntity	mondo			submaxillary gland mesenchyme|submandibular gland mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003418	Mesenchyme that is part of a developing submandibular gland [Automatically generated definition].	
UBERON:0003419	mesenchyme of parotid	biolink:AnatomicalEntity	mondo			parotid gland mesenchyme|mesenchyme of parotid gland|parotid mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003419	Mesenchyme that is part of a developing parotid gland [Automatically generated definition].	
UBERON:0003416	mesenchyme of tongue	biolink:AnatomicalEntity	mondo			tongue mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003416	Mesenchyme that is part of a developing tongue [Automatically generated definition].	
UBERON:0003417	mesenchyme of soft palate	biolink:AnatomicalEntity	mondo			soft palate mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003417	Mesenchyme that is part of a developing soft palate [Automatically generated definition].	
CHEBI:24870	ion	biolink:ChemicalSubstance	mondo			Ionen|ion|Ion|ions|iones	http://purl.obolibrary.org/obo/CHEBI_24870	A molecular entity having a net electric charge.	
CHEBI:36856	hydrogen isocyanide	biolink:ChemicalSubstance	mondo			HN(+)#C(-)|nitriliomethanide|HNC|CNH|hydroisocyanic acid|hydrogen isocyanide	http://purl.obolibrary.org/obo/CHEBI_36856		
HGNC:14304	UNC45B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14304		
HGNC:16966	ZMYND11	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16966		
UBERON:0003425	renal lymph node	biolink:AnatomicalEntity	mondo			lymph node of kidney|kidney lymph node	http://purl.obolibrary.org/obo/UBERON_0003425	A lymph node that is located in a kidney [Automatically generated definition].	
UBERON:0003426	dermis adipose tissue	biolink:AnatomicalEntity	mondo			dermis fatty tissue|adipose tissue of dermis|fat tissue of dermis|fatty tissue of dermis|dermis fat tissue	http://purl.obolibrary.org/obo/UBERON_0003426	An adipose tissue that is part of a dermis [Automatically generated definition].	
UBERON:0003424	mesenchyme of hard palate	biolink:AnatomicalEntity	mondo			hard palate mesenchyme	http://purl.obolibrary.org/obo/UBERON_0003424	Mesenchyme that is part of a developing hard palate [Automatically generated definition].	
GO:0070563	negative regulation of vitamin D receptor signaling pathway	biolink:OntologyClass	mondo			down regulation of vitamin D receptor signaling pathway|negative regulation of VDR signaling pathway|inhibition of vitamin D receptor signaling pathway|down-regulation of vitamin D receptor signaling pathway|negative regulation vitamin D receptor signalling pathway|negative regulation of VDR signalling pathway|downregulation of vitamin D receptor signaling pathway	http://purl.obolibrary.org/obo/GO_0070563	Any process that stops, prevents, or reduces the frequency, rate or extent of the vitamin D receptor signaling pathway activity.	
GO:0070564	positive regulation of vitamin D receptor signaling pathway	biolink:OntologyClass	mondo			upregulation of vitamin D receptor signaling pathway|positive regulation of vitamin D receptor signalling pathway|stimulation of vitamin D receptor signaling pathway|up regulation of vitamin D receptor signaling pathway|up-regulation of vitamin D receptor signaling pathway|activation of vitamin D receptor signaling pathway|positive regulation of VDR signaling pathway	http://purl.obolibrary.org/obo/GO_0070564	Any process that activates or increases the frequency, rate or extent of vitamin D receptor signaling pathway activity.	
UBERON:0003422	mesenchyme of umbilical cord	biolink:AnatomicalEntity	mondo			umbilical cord mesenchyme|Wharton's jelly	http://purl.obolibrary.org/obo/UBERON_0003422	A gelatinous substance within the umbilical cord, largely made up of mucopolysaccharides (hyaluronic acid and chondroitin sulfate). It also contains some fibroblasts and macrophages. It is derived from Extra Embryonic Mesoderm[WP]	
GO:0070561	vitamin D receptor signaling pathway	biolink:OntologyClass	mondo			VDR signaling pathway|vitamin D receptor signalling pathway|calcitriol signaling pathway	http://purl.obolibrary.org/obo/GO_0070561	The series of molecular signals generated as a consequence of a vitamin D receptor binding to one of its physiological ligands.	
GO:0070562	regulation of vitamin D receptor signaling pathway	biolink:OntologyClass	mondo			regulation of VDR signaling pathway|regulation of vitamin D receptor signalling pathway	http://purl.obolibrary.org/obo/GO_0070562	Any process that modulates the frequency, rate or extent of vitamin D receptor signaling pathway activity.	
UBERON:0003420	mesenchyme of sublingual gland	biolink:AnatomicalEntity	mondo			sublingual gland mesenchyme|mesenchyme of Rivinus'gland|Rivinus'gland mesenchyme|ductus sublingualis mesenchyme|mesenchyme of ductus sublingualis	http://purl.obolibrary.org/obo/UBERON_0003420	Mesenchyme that is part of a developing sublingual gland [Automatically generated definition].	
MONDO:0006617	vesiculobullous skin disease	biolink:Disease	mondo	DOID:2731|UMLS:C0037275|EFO:1000774|MESH:D012872		dermatoses, bullous|dermatosis, subcorneal pustular|subcorneal pustular dermatoses|bullous skin diseases|skin disease, vesiculobullous|vesicular skin disease|skin diseases, vesicular|subcorneal pustular dermatosis|dermatoses, subcorneal pustular|vesiculobullous dermatoses|vesicular skin diseases|pustular dermatoses, subcorneal|bullous skin disease|Sneddon-Wilkinson disease|vesiculobullous skin disease|skin disease, bullous|skin diseases, bullous|pustular dermatosis, subcorneal|dermatoses, vesiculobullous|Sneddon Wilkinson disease|vesiculobullous skin diseases|skin disease, vesicular|bullous dermatoses	http://purl.obolibrary.org/obo/MONDO_0006617	Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)	UMLS:C0037275|MESH:D012872|DOID:2731
MONDO:0006618	vibratory urticaria	biolink:Disease	mondo	ICD9:708.4|COHD:139100|SCTID:51247001|EFO:1000775|GARD:0009806|ICD10:L50.4|Wikipedia:Urticaria#Vibratory_angioedema|UMLS:C0157743|DOID:1554			http://purl.obolibrary.org/obo/MONDO_0006618	This very rare form of angioedema develops in reply to contact with vibration. In vibratory angioedema, symptoms develop within two to five minutes after contact with vibration and dissolve after about an hour. Patients with this disorder do not suffer from dermographism or pressure urticaria. Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. The principal treatment is avoidance of vibratory stimulants. Antihistamines have also been proven helpful.[	DOID:1554|SNOMEDCT:51247001|UMLS:C0157743
MONDO:0006615	sweat gland disease	biolink:Disease	mondo	ICD9:705.89|ICD10:L74|UMLS:C0038986|ICD10:L74.9|MESH:D013543|DOID:1383|ICD9:705.9|ICD9:705|EFO:1000772|SCTID:88232005		disorder of sweat gland|sweat gland disease|disease or disorder of sweat gland|disorder of sweat glands|sweat gland disease or disorder|disease of sweat gland|disease of sweat glands|disorder of sweat gland	http://purl.obolibrary.org/obo/MONDO_0006615	A disease involving the sweat gland.	MESH:D013543|UMLS:C0038986|SNOMEDCT:88232005|DOID:1383
UBERON:0015474	axilla skin	biolink:AnatomicalEntity	mondo			skin of axilla|axillary skin	http://purl.obolibrary.org/obo/UBERON_0015474	A zone of skin that is part of a axilla.	
MONDO:0006616	toxicodendron dermatitis	biolink:Disease	mondo	ICD9:692.6|UMLS:C0032342|DOID:3819|EFO:1000773|MESH:D011040|SCTID:410049000		contact dermatitis due to genus Toxicodendron|Rhus dermatitis	http://purl.obolibrary.org/obo/MONDO_0006616	An allergic contact dermatitis caused by exposure to plants of the genus Toxicodendron (formerly Rhus). These include poison ivy, poison oak, and poison sumac, all plants that contain the substance urushiol, a potent skin sensitizing agent. (From Dorland, 27th ed)	UMLS:C0032342|MESH:D011040|DOID:3819|SNOMEDCT:410049000
MONDO:0006613	stromal corneal pigmentation	biolink:Disease	mondo	ICD9:371.12|SCTID:55031000|UMLS:C0155105|EFO:1000770|DOID:12311|ICD10:H18.06		stromal corneal pigmentations	http://purl.obolibrary.org/obo/MONDO_0006613	Stromal pigmentation such as that in ochronosis results from chronic irritation. The melanin is in the superficial stroma and the basal layer of the corneal epithelium.	SNOMEDCT:55031000|UMLS:C0155105|DOID:12311
MONDO:0006614	subcorneal pustular dermatosis	biolink:Disease	mondo	ICD9:694.1|Orphanet:48377|MedDRA:10042342|COHD:134117|EFO:1000771|SCTID:25147002|ICD10:L13.1|UMLS:C0600336|DOID:8508	ordo_disease	subcorneal pustular dermatosis|subcorneal pustular dermatitis|pustulosis subcornealis|Sneddon-Wilkinson disease|Sneddon-Wilkinson disease or syndrome	http://purl.obolibrary.org/obo/MONDO_0006614	A rare, benign, chronic disease characterized by sterile pustular eruption, typically involving the flexural sites of the trunk and proximal extremities.	DOID:8508|MEDDRA:10042342|SNOMEDCT:25147002|UMLS:C0600336|ORPHA:48377
MONDO:0006611	skin sarcoidosis	biolink:Disease	mondo	EFO:1000767|DOID:13402|COHD:4185547|NCIT:C34996|ICD10:D86.3|SCTID:55941000|UMLS:C0036203|Wikipedia:Cutaneous_manifestations_of_sarcoidosis		sarcoidosis of zone of skin|cutaneous sarcoid|cutaneous sarcoidosis|zone of skin sarcoidosis	http://purl.obolibrary.org/obo/MONDO_0006611	Formation of non-necrotizing granulomas in the skin. It may be a manifestation of systemic sarcoidosis or may also arise in isolation.	NCIT:C34996|DOID:13402|UMLS:C0036203|SNOMEDCT:55941000
HGNC:28912	WDR45	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28912		
MONDO:0006612	steroid lipomatosis	biolink:Disease	mondo	DOID:3925|UMLS:C1336506|NCIT:C27487|EFO:1000769		steroid lipomatosis	http://purl.obolibrary.org/obo/MONDO_0006612	A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the face, upper middle back, and sternal region. It is associated with adrenocortical steroid therapy or an increase in endogenous adrenocortical hormone.	DOID:3925|NCIT:C27487|UMLS:C1336506
MONDO:0006610	skin atrophy	biolink:Disease	mondo	EFO:1000766|ICD10:L90.9|NCIT:C35163|COHD:134118|Wikipedia:Steroid_atrophy|ICD9:701.8|DOID:2733|ICD10:L90|SCTID:400190005|UMLS:C0151514		atrophy of skin|atrophic condition of skin|atrophic skin|atrophy - skin|atrophoderma	http://purl.obolibrary.org/obo/MONDO_0006610	The degeneration and thinning of the epidermis and dermis. It is usually a manifestation of aging.	NCIT:C35163|UMLS:C0151514|SNOMEDCT:400190005|DOID:2733
CHEBI:36828	pseudohalide anion	biolink:ChemicalSubstance	mondo			pseudohalide ions|pseudohalide anions|pseudohalogen anion|pseudohalogen ion|pseudohalides	http://purl.obolibrary.org/obo/CHEBI_36828		
UBERON:0015479	scrotum skin	biolink:AnatomicalEntity	mondo			scrotal skin|skin of scrotum	http://purl.obolibrary.org/obo/UBERON_0015479	A zone of skin that is part of a scrotum.	
UBERON:0015476	nose skin	biolink:AnatomicalEntity	mondo			skin of external nose|skin of nose|external nasal skin	http://purl.obolibrary.org/obo/UBERON_0015476	A zone of skin that is part of a external nose.	
CHEBI:36829	polyatomic monoanion	biolink:ChemicalSubstance	mondo			polyatomic monoanions	http://purl.obolibrary.org/obo/CHEBI_36829		
UBERON:0015477	axillary fat pad	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015477	A fat pad that is part of a axilla.	
UBERON:0003494	respiratory system venule	biolink:AnatomicalEntity	mondo			venule of apparatus respiratorius|venule of respiratory system|apparatus respiratorius venule	http://purl.obolibrary.org/obo/UBERON_0003494	A venule that is part of a respiratory system [Automatically generated definition].	
MONDO:0018606	extensive peripapillary myelinated nerve fibers	biolink:Disease	mondo	Orphanet:440724|UMLS:CN237640	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0018606		ORPHA:440724|UMLS:CN237640
CHEBI:36820	ring assembly	biolink:ChemicalSubstance	mondo			ring assemblies|ring assembly	http://purl.obolibrary.org/obo/CHEBI_36820	Two or more cyclic systems (single rings or fused systems) which are directly joined to each other by double or single bonds are named ring assemblies when the number of such direct ring junctions is one less than the number of cyclic systems involved.	
UBERON:0003495	respiratory system arteriole	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0003495	An arteriole that is part of a respiratory system [Automatically generated definition].	
MONDO:0018605	disorders of pentose/polyol metabolism	biolink:Disease	mondo	Orphanet:440701|UMLS:CN237637	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0018605		ORPHA:440701|UMLS:CN237637
MONDO:0018608	pure autonomic failure	biolink:Disease	mondo	SCTID:84438001|Orphanet:441|ICD10:G90.3|MESH:D054970|UMLS:C0393911|UMLS:CN205091|UMLS:C2931939|GARD:0010428	ordo_disease	Pure idiopatic dysautonomia|Bradbury-Eggleston syndrome|Pure dysautonomia|orthostatic hypotension (a symptom)|idiopathic orthostatic hypotension (a symptom)|PAF|idiopathic orthostatic hypotension|Bradbury Eggleston syndrome	http://purl.obolibrary.org/obo/MONDO_0018608	Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension.	MESH:C544351|UMLS:C2931939|UMLS:C0393911|SNOMEDCT:84438001|ORPHA:441|MESH:D054970|UMLS:CN205091
MONDO:0018607	combined hamartoma of the retina and retinal pigment epithelium	biolink:Disease	mondo	Orphanet:440727|UMLS:CN237641|UMLS:C1862062	ordo_disease	combined hamartoma of the retina and RPE|CHR-RPE	http://purl.obolibrary.org/obo/MONDO_0018607		UMLS:C1862062|ORPHA:440727|UMLS:CN237641
MONDO:0018602	necrotizing soft tissue infection	biolink:Disease	mondo	ICD9:729.99|ICD10:M72.6|Orphanet:440368|ICD9:136.9|UMLS:CN237632|UMLS:C2732890|SCTID:443928008	ordo_disease	NSTI	http://purl.obolibrary.org/obo/MONDO_0018602		UMLS:C2732890|ORPHA:440368|UMLS:CN237632|SNOMEDCT:443928008
MONDO:0018601	autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	biolink:Disease	mondo	Orphanet:440354|UMLS:CN237631	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0018601		ORPHA:440354|UMLS:CN237631
MONDO:0018604	familial colorectal cancer type X	biolink:Disease	mondo	Orphanet:440437|UMLS:CN237636|NCIT:C120084|UMLS:C3896578|ICD10:C18.7|ICD10:C18.6|ICD10:C18.5|ICD10:C18.4|ICD10:C18.3|ICD10:C18.2|ICD10:C18.1|ICD10:C18.0	ordo_disease	FCCTX|familial colorectal cancer type X	http://purl.obolibrary.org/obo/MONDO_0018604	Hereditary nonpolyposis colorectal cancer characterized by the absence of germline mutations in DNA mismatch-repair genes.	NCIT:C120084|ORPHA:440437|UMLS:CN237636|UMLS:C3896578
ECTO:8000035	exposure to anthropogenic modulatory intervention process	biolink:OntologyClass	mondo			anthropogenic modulatory intervention process exposure	http://purl.obolibrary.org/obo/ECTO_8000035	A exposure event involving the interaction of an exposure receptor to anthropogenic modulatory intervention process.	
MONDO:0018603	interstitial lung disease due to SP-c deficiency	biolink:Disease	mondo	UMLS:CN237633|Orphanet:440392|ICD10:J84.8	ordo_disease	interstitial lung disease due to surfactant protein C deficiency	http://purl.obolibrary.org/obo/MONDO_0018603		ORPHA:440392|UMLS:CN237633
HGNC:1665	SCARB2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1665		
MONDO:0018600	congenital abducens nerve palsy	biolink:Disease	mondo	ICD10:Q07.8|Orphanet:440233	ordo_disease	benign congenital sixth cranial nerve palsy|congenital CNVI palsy	http://purl.obolibrary.org/obo/MONDO_0018600		ORPHA:440233
HGNC:1663	CD36	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1663		
UBERON:0003498	heart blood vessel	biolink:AnatomicalEntity	mondo			blood vessel of heart|cardiac blood vessel	http://purl.obolibrary.org/obo/UBERON_0003498	A blood vessel that is part of a heart [Automatically generated definition].	
UBERON:0003499	brain blood vessel	biolink:AnatomicalEntity	mondo			blood vessel of brain	http://purl.obolibrary.org/obo/UBERON_0003499	A blood vessel that is part of a brain [Automatically generated definition].	
HGNC:28908	DNAJC12	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28908		
MONDO:0006608	seborrheic dermatitis (disease)	biolink:Disease	mondo	MESH:D012628|ICD10:L21|NCIT:C111888|ICD9:706.3|ICD10:L21.9|ICD9:690.1|DOID:8741|EFO:1000764|UMLS:C0036508|HP:0001051|ICD9:690.10		seborrheic eczema|Seborrhoeic eczema|seborrheic dermatitis|cradle Cap|skin seborrheic|Seborrhoeic dermatitis|seborrhea	http://purl.obolibrary.org/obo/MONDO_0006608	A chronic, inflammatory skin disorder that affects the scalp, central face and skin folds; it is characterized by scaling and itching.	DOID:8741|NCIT:C111888|MESH:D012628|UMLS:C0036508
UBERON:0003496	head blood vessel	biolink:AnatomicalEntity	mondo			blood vessel of adult head|adult head blood vessel|blood vessel of head	http://purl.obolibrary.org/obo/UBERON_0003496	A blood vessel that is part of a head [Automatically generated definition].	
HGNC:28909	CCDC22	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28909		
MONDO:0006609	seborrheic infantile dermatitis	biolink:Disease	mondo	ICD9:690.11|ICD10:L21.0|DOID:8941|EFO:1000765|UMLS:C0221244|COHD:141654		scalp seborrheic dermatitis (disease)|seborrhea capitis|infantile seborrheic dermatitis|Seborrhoea capitis|seborrheic dermatitis (disease) of scalp|Seborrhoeic eczema of scalp|Pityriasis capitis|complement 5 dysfunction|Seborrhoeic dermatitis of scalp|seborrhea sicca|infantile seborrhoeic dermatitis|generalized seborrheic dermatitis of infants|cradle cap	http://purl.obolibrary.org/obo/MONDO_0006609	Excessive shedding of dry scaly material from the scalp in humans.	DOID:8941|UMLS:C0221244
UBERON:0003497	abdomen blood vessel	biolink:AnatomicalEntity	mondo			blood vessel of abdomen	http://purl.obolibrary.org/obo/UBERON_0003497	A blood vessel that is part of an abdomen [Automatically generated definition].	
MONDO:0006628	obsolete Sezary disease	biolink:Disease	mondo			obsolete Sezary's disease	http://purl.obolibrary.org/obo/MONDO_0006628		
MONDO:0006629	osteoarthritis, hip	biolink:Disease	mondo	NCIT:C34876|COHD:4079749|EFO:1000786|MESH:D015207		hip osteoarthritis	http://purl.obolibrary.org/obo/MONDO_0006629	Noninflammatory degenerative disease of the hip joint which usually appears in late middle or old age. It is characterized by growth or maturational disturbances in the femoral neck and head, as well as acetabular dysplasia. A dominant symptom is pain on weight-bearing or motion.	MESH:D015207|NCIT:C34876
HGNC:28927	KRT71	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28927		
MONDO:0006626	diabetic neuropathy	biolink:Disease	mondo	EFO:1000783|SCTID:230572002|DOID:9743|UMLS:C0011882|ICD9:250.6|MESH:D003929|NCIT:C26748			http://purl.obolibrary.org/obo/MONDO_0006626	A chronic, pathological complication associated with diabetes mellitus, where nerve damages are incurred due to diabetic microvascular injury involving small blood vessels that supply these nerves, resulting in peripheral and/or autonomic nerve dysfunction.	MESH:D003929|UMLS:C0011882|SNOMEDCT:230572002|DOID:9743|NCIT:C26748
MONDO:0006627	obsolete microscopic polyangiitis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006627		
MONDO:0006624	overactive bladder (disease)	biolink:Disease	mondo	ICD9:596.51|SCTID:236633002|EFO:1000781|MESH:D053201|HP:0000012|MedDRA:10020853		overactive bladder	http://purl.obolibrary.org/obo/MONDO_0006624	Symptom of overactive detrusor muscle of the urinary bladder that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. urinary incontinence may or may not be present.	SNOMEDCT:236633002|MESH:D053201
MONDO:0006625	altitude sickness	biolink:Disease	mondo	EFO:1000782|ICD10:T70.2|MESH:D000532|Wikipedia:Altitude_sickness			http://purl.obolibrary.org/obo/MONDO_0006625	Multiple symptoms associated with reduced oxygen at high altitude.	MESH:D000532
MONDO:0006622	vulvar seborrheic keratosis	biolink:Disease	mondo	NCIT:C6375|DOID:6944|UMLS:C1336981|EFO:1000779		mammalian vulva seborrheic keratosis|seborrheic keratosis of the vulva|seborrheic keratosis of vulva|seborrheic keratosis of mammalian vulva	http://purl.obolibrary.org/obo/MONDO_0006622	A benign squamous neoplasm that arises from the vulva. It is characterized by the proliferation of the basal cells in the squamous epithelium, acanthosis, hyperkeratosis, and cysts formation.	DOID:6944|NCIT:C6375|UMLS:C1336981
MONDO:0006623	obsolete autoimmune pancreatitis type 1	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0006623		
MONDO:0006620	vulva fibroepithelial polyp	biolink:Disease	mondo	NCIT:C6857|DOID:8255|UMLS:C1336978|EFO:1000777		vulvar fibroepithelial stromal polyp|skin tag of mammalian vulva|mammalian vulva skin tag|vulval fibroepithelial polyp|vulvar fibroepithelial polyp|fibroepithelial polyp of the vulva|fibroepithelial polyp of vulva	http://purl.obolibrary.org/obo/MONDO_0006620	A polypoid lesion that arises from the vulva and is characterized by the presence of fibrovascular stroma lined by squamous epithelium. There is no evidence of epithelial atypia.	NCIT:C6857|DOID:8255|UMLS:C1336978
MONDO:0006621	vulvar inverted follicular keratosis	biolink:Disease	mondo	NCIT:C40291|DOID:6943|UMLS:C1520084|EFO:1000778		mammalian vulva inverted follicular keratosis|inverted follicular keratosis of mammalian vulva	http://purl.obolibrary.org/obo/MONDO_0006621	Seborrheic keratosis that arises from follicular structures in the vulva. It is characterized by the presence of prominent squamous eddies.	NCIT:C40291|DOID:6943|UMLS:C1520084
UBERON:0003483	thymus lymphoid tissue	biolink:AnatomicalEntity	mondo			lymphoid tissue of thymus gland|lymphoid tissue of thymus|thymus gland lymphoid tissue	http://purl.obolibrary.org/obo/UBERON_0003483	A portion of lymphoid tissue that is part of a thymus [Automatically generated definition].	
HGNC:16947	ERLIN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16947		
CHEBI:36830	monoanion	biolink:ChemicalSubstance	mondo			monoanions	http://purl.obolibrary.org/obo/CHEBI_36830		
UBERON:0003484	eye sebaceous gland	biolink:AnatomicalEntity	mondo			sebaceous gland of vertebrate eye|camera-type eye sebaceous gland|sebaceous gland of camera-type eye|vertebrate eye sebaceous gland	http://purl.obolibrary.org/obo/UBERON_0003484	A sebaceous gland that is part of a camera-type eye. Example: a tarsal gland.	
UBERON:0003481	tail vein	biolink:AnatomicalEntity	mondo			post-vent region vein|vein of post-vent region|vein of tail|caudal vein	http://purl.obolibrary.org/obo/UBERON_0003481	A vein that is part of a tail [Automatically generated definition].	
UBERON:0003480	vein of clitoris	biolink:AnatomicalEntity	mondo			clitoris vein	http://purl.obolibrary.org/obo/UBERON_0003480	A vein that is part of a clitoris [Automatically generated definition].	
HGNC:1677	CD247	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1677		
UBERON:0003489	respiratory system capillary endothelium	biolink:AnatomicalEntity	mondo			respiratory system endothelium of capillary vessel|apparatus respiratorius endothelium of blood capillary|capillary vessel endothelium of respiratory system|blood capillary endothelium of apparatus respiratorius|endothelium of capillary of respiratory system|endothelium of capillary vessel of apparatus respiratorius|endothelium of blood capillary of apparatus respiratorius|respiratory system blood capillary endothelium|respiratory system capillary vessel endothelium|capillary endothelium of respiratory system|respiratory system endothelium of capillary|capillary endothelium of apparatus respiratorius|endothelium of blood capillary of respiratory system|apparatus respiratorius capillary endothelium|endothelium of capillary vessel of respiratory system|endothelium of capillary of apparatus respiratorius|apparatus respiratorius capillary vessel endothelium|capillary vessel endothelium of apparatus respiratorius|blood capillary endothelium of respiratory system|apparatus respiratorius endothelium of capillary|apparatus respiratorius endothelium of capillary vessel|respiratory system endothelium of blood capillary|apparatus respiratorius blood capillary endothelium	http://purl.obolibrary.org/obo/UBERON_0003489	An endothelium of capillary that is part of a respiratory system [Automatically generated definition].	
HGNC:1674	CD3E	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1674		
GO:0070588	calcium ion transmembrane transport	biolink:OntologyClass	mondo			calcium ion membrane transport|transmembrane calcium transport	http://purl.obolibrary.org/obo/GO_0070588	A process in which a calcium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore.	
HGNC:16940	DGAT2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16940		
HGNC:1675	CD3G	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1675		
UBERON:0003487	skin sebaceous gland	biolink:AnatomicalEntity	mondo			cutaneous sebaceous gland|sebaceous gland of skin	http://purl.obolibrary.org/obo/UBERON_0003487	A holocrine gland of the dermis that secretes sebum into hair follicles.	
UBERON:0003488	abdominal mammary gland	biolink:AnatomicalEntity	mondo			lobe of breast of abdomen|abdomen lobe of breast|lactiferous gland of abdomen|abdomen lobe of mammary gland|abdomen mammary gland|mammary gland of abdomen|lobe of mammary gland of abdomen|abdomen lactiferous gland	http://purl.obolibrary.org/obo/UBERON_0003488	A lactiferous gland that is part of the abdominal region [Automatically generated definition].	
HGNC:1673	CD3D	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1673		
UBERON:0003485	vagina sebaceous gland	biolink:AnatomicalEntity	mondo			sebaceous gland of vagina	http://purl.obolibrary.org/obo/UBERON_0003485	A sebaceous gland that is part of a vagina [Automatically generated definition].	
MONDO:0006619	viral exanthem	biolink:Disease	mondo	SCTID:49882001|EFO:1000776|ICD9:057.8|DOID:8672|ICD9:057.9|UMLS:C0153062|COHD:140020			http://purl.obolibrary.org/obo/MONDO_0006619	A virus-induced exanthem	UMLS:C0153062|DOID:8672|SNOMEDCT:49882001
HGNC:1678	CD4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1678		
UBERON:0015458	mediastinal fat pad	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015458	A fat pad that is part of a mediastinum.	
UBERON:0015454	pancreatic fat pad	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015454	A fat pad that is part of a pancreas.	
UBERON:0015453	subcutaneous lymph node	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0015453	A lymph node that is part of a hypodermis.	
UBERON:0003472	cerebellar artery	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0003472	An artery that supplies blood to the cerebellum.	
UBERON:0003473	thoracic cavity artery	biolink:AnatomicalEntity	mondo			thoracic artery	http://purl.obolibrary.org/obo/UBERON_0003473	An artery that is part of a thoracic cavity[cjm].	
UBERON:0003470	artery of upper lip	biolink:AnatomicalEntity	mondo			ramus labialis superior arteriae facialis|superior labial artery|arteria labialis superior|superior labial branch of facial artery	http://purl.obolibrary.org/obo/UBERON_0003470	The superior labial artery (superior labial branch of facial artery) is larger and more tortuous than the inferior labial artery. It follows a similar course along the edge of the upper lip, lying between the mucous membrane and the Orbicularis oris, and anastomoses with the artery of the opposite side. It supplies the upper lip, and gives off in its course two or three vessels which ascend to the nose; a septal branch ramifies on the nasal septum as far as the point of the nose, and an alar branch supplies the ala of the nose.	
NCBITaxon:43075	Trichomonas tenax	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_43075		
UBERON:0003471	artery of lower lip	biolink:AnatomicalEntity	mondo			arteria labialis inferior|ramus labialis inferior arteriae facialis|inferior labial artery|inferior labial branch of facial artery|ramus labialis inferior (arteria facialis)	http://purl.obolibrary.org/obo/UBERON_0003471	The Iinferior labial artery (inferior labial branch of facial artery) arises near the angle of the mouth; it passes upward and forward beneath the Triangularis and, penetrating the Orbicularis oris, runs in a tortuous course along the edge of the lower lip between this muscle and the mucous membrane. It supplies the labial glands, the mucous membrane, and the muscles of the lower lip; and anastomoses with the artery of the opposite side, and with the mental branch of the inferior alveolar artery.	
HGNC:16915	HAX1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16915		
HGNC:16912	EMG1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/16912		
ECTO:8000017	exposure to atmospheric process	biolink:OntologyClass	mondo			atmospheric process exposure	http://purl.obolibrary.org/obo/ECTO_8000017	A exposure event involving the interaction of an exposure receptor to atmospheric process.	
ECTO:9001793	anaesthetic exposure	biolink:OntologyClass	mondo			exposure to anaesthetic	http://purl.obolibrary.org/obo/ECTO_9001793	An exposure to anaesthetic.	
UBERON:0003478	vein of lower lip	biolink:AnatomicalEntity	mondo			venae labiales inferiores|lower lip vein|vena labialis inferior|inferior labial vein	http://purl.obolibrary.org/obo/UBERON_0003478	The inferior labial vein is the vein receiving blood from the lower lip.	
UBERON:0003479	thoracic cavity vein	biolink:AnatomicalEntity	mondo			cavity of thorax vein|vein of thoracic cavity|vein of cavity of chest|vein of pectoral cavity|pectoral cavity vein|vein of chest cavity|cavity of chest vein|chest cavity vein|vein of cavity of thorax	http://purl.obolibrary.org/obo/UBERON_0003479	A vein that is part of a thoracic cavity [Automatically generated definition].	
UBERON:0003476	respiratory system venous blood vessel	biolink:AnatomicalEntity	mondo			vein of respiratory system|respiratory system vein|vein of apparatus respiratorius|apparatus respiratorius vein	http://purl.obolibrary.org/obo/UBERON_0003476	A vein that is part of a respiratory system [Automatically generated definition].	
UBERON:0003477	vein of upper lip	biolink:AnatomicalEntity	mondo			vena labialis superior|upper lip vein|superior labial vein	http://purl.obolibrary.org/obo/UBERON_0003477	The inferior labial vein is the vein receiving blood from the upper lip.	
UBERON:0003474	meningeal artery	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0003474	One of the arteries supplying a meninix[Automatically generated definition].	
UBERON:0003475	ureteric vein	biolink:AnatomicalEntity	mondo			vein of ureter|ureter vein	http://purl.obolibrary.org/obo/UBERON_0003475	A vein that is part of a ureter [Automatically generated definition].	
MONDO:0006606	scleredema adultorum	biolink:Disease	mondo	NCIT:C85057|EFO:1000762|UMLS:C0036413|DOID:3140|MESH:D012592		Buschke scleredema|Scleredemas|scleredema|scleredema adultorum of Buschke|Diabeticorum, scleredema|Diabeticorums, scleredema|Buschkes scleredema|scleredema Diabeticorum of Buschke|scleredema Diabeticorums|scleredema Diabeticorum|Buschke scleredema Diabeticorum|Buschke scleredema adultorum|scleredema, Buschke's|scleredema adultorum|Buschke's scleredema	http://purl.obolibrary.org/obo/MONDO_0006606	A usually benign and self-limited skin disorder of unknown etiology, characterized by induration of the skin. It may be associated with infection, diabetes mellitus, and hematologic malignancies. Morphologically, there is deposition of mucin in the dermis.	MESH:D012592|DOID:3140|UMLS:C0036413|NCIT:C85057
MONDO:0006607	sebaceous gland disease	biolink:Disease	mondo	MESH:D012625|UMLS:C0036502|ICD10:L70.8|SCTID:3441005|EFO:1000763|ICD9:706.1|DOID:9098		disease or disorder of sebaceous gland|disease of sebaceous glands|disease of sebaceous gland|sebaceous gland disease or disorder|disorder of sebaceous gland|sebaceous gland disease|disorder of sebaceous gland	http://purl.obolibrary.org/obo/MONDO_0006607	A disease involving the sebaceous gland.	DOID:9098|SNOMEDCT:3441005|MESH:D012625|UMLS:C0036502
MONDO:0006604	rosacea	biolink:Disease	mondo	MESH:D012393|ICD10:L71.9|ICD9:695.3|NCIT:C97136|UMLS:C0035854|EFO:1000760|SCTID:398909004|Wikipedia:Rosacea|DOID:8881|ICD10:L71|COHD:136773		acne, erythematosa|acne roscea|acne rosacea	http://purl.obolibrary.org/obo/MONDO_0006604	A chronic erythematous skin disorder that affects the face. It is characterized by the development of redness in the cheeks, nose, and/or forehead and telangiectasia. Sometimes, the erythematous changes may involve the eyelids.	UMLS:C0035854|DOID:8881|SNOMEDCT:398909004|MESH:D012393|NCIT:C97136
MONDO:0006605	scalp dermatosis	biolink:Disease	mondo	DOID:3136|EFO:1000761|SCTID:402694007|UMLS:C0036271|MESH:D012536		dermatosis of scalp	http://purl.obolibrary.org/obo/MONDO_0006605	Dermotosis of scalp	SNOMEDCT:402694007|DOID:3136|MESH:D012536|UMLS:C0036271
MONDO:0006602	porokeratosis (disease)	biolink:Disease	mondo	UMLS:C0162839|EFO:1000757|ICD10:L56.5|DOID:3805|HP:0200044|ICD10:Q82.8|ICD9:757.39|ICD9:692.75|Wikipedia:Porokeratosis|MedDRA:10036175|SCTID:400080004|OMIMPS:175800|Orphanet:79358|NCIT:C85019	ordo_group_of_disorders	porokeratosis|disseminated superficial actinic porokeratosis	http://purl.obolibrary.org/obo/MONDO_0006602	A clonal proliferation of abnormal keratinocytes characterized by the development of localized or multiple atrophic skin patches surrounded by an annular keratotic ring called cornoid lamella.	MESH:D017499|MEDDRA:10036175|UMLS:C0162839|ORPHA:79358|NCIT:C85019|DOID:3805|SNOMEDCT:400080004
CHEBI:24834	inorganic anion	biolink:ChemicalSubstance	mondo			inorganic anions	http://purl.obolibrary.org/obo/CHEBI_24834		
MONDO:0006603	reactive cutaneous fibrous lesion	biolink:Disease	mondo	DOID:2053|EFO:1000759|NCIT:C27549|UMLS:C1335666			http://purl.obolibrary.org/obo/MONDO_0006603	A benign, epidermal skin lesion characterized by overexpression of collagen during wound healing.	UMLS:C1335666|DOID:2053|NCIT:C27549
CHEBI:24833	oxoacid	biolink:ChemicalSubstance	mondo			oxy-acids|oxoacid|oxo acid|oxiacids|oxyacids|oxoacids|oxacids	http://purl.obolibrary.org/obo/CHEBI_24833	A compound which contains oxygen, at least one other element, and at least one hydrogen bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons).	
HGNC:28900	PNPLA8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/28900		
MONDO:0006600	pigmentation disease	biolink:Disease	mondo	SCTID:414032001		disorder of pigmentation	http://purl.obolibrary.org/obo/MONDO_0006600		SNOMEDCT:414032001
HGNC:1689	CD59	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1689		
MONDO:0006601	pityriasis rosea	biolink:Disease	mondo	ICD9:696.3|SCTID:77252004|EFO:1000756|UMLS:C0032026|DOID:8892|NCIT:C26855|MESH:D017515|ICD10:L42|Wikipedia:Pityriasis_rosea|COHD:141371		Pityriasis rosea|Pityriasis circinata	http://purl.obolibrary.org/obo/MONDO_0006601	A mild, self-limited skin disorder that is most commonly seen in children and young adults. It is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs. There may also be itching, especially when overheated.	MESH:D017515|SNOMEDCT:77252004|UMLS:C0032026|NCIT:C26855|DOID:8892
UBERON:0003461	shoulder bone	biolink:AnatomicalEntity	mondo			bone of shoulder|shoulder-articulating bone	http://purl.obolibrary.org/obo/UBERON_0003461	A bone that is connected via a shoulder joint (i.e. glenohumeral or acromioclavicular joints). The shoulder bones are the clavicle, scapula and humerus - but note that these are only considered to be shoulder bones when a true shoulder is present, as in most tetrapods.	
ECTO:8000000	exposure to environmental system process	biolink:OntologyClass	mondo			environmental system process exposure	http://purl.obolibrary.org/obo/ECTO_8000000	A exposure event involving the interaction of an exposure receptor to environmental system process.	
UBERON:0003462	facial bone	biolink:AnatomicalEntity	mondo			facial bone|bone of facial skeleton|facial skeleton bone|bone of viscerocranium|viscerocranium bone	http://purl.obolibrary.org/obo/UBERON_0003462	A bone that is part of a facial skeleton [Automatically generated definition].	
UBERON:0003460	arm bone	biolink:AnatomicalEntity	mondo			bone of upper extremity|bone of arm|bone organ of arm|arm bone organ	http://purl.obolibrary.org/obo/UBERON_0003460	A bone that is part of the region of the forelimb that includes the zeugopod and stylopod. Examples: patella, femur, tibia	
UBERON:0003469	respiratory system artery	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0003469	An artery that is part of a respiratory system [Automatically generated definition].	
HGNC:1698	CD79A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1698		
HGNC:1699	CD79B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/1699		
CHEBI:24836	inorganic oxide	biolink:ChemicalSubstance	mondo			inorganic oxides	http://purl.obolibrary.org/obo/CHEBI_24836		
UBERON:0003468	ureteric segment of renal artery	biolink:AnatomicalEntity	mondo			ureteric artery	http://purl.obolibrary.org/obo/UBERON_0003468	The ureteral branches of renal artery are small branches which supply the ureter.	
CHEBI:24835	inorganic molecular entity	biolink:ChemicalSubstance	mondo			inorganic molecular entities|anorganische Verbindungen|inorganic compounds|inorganic entity|inorganics	http://purl.obolibrary.org/obo/CHEBI_24835	A molecular entity that contains no carbon.	
UBERON:0003466	forelimb zeugopod bone	biolink:AnatomicalEntity	mondo			lower arm bone|zeugopod bone, forelimb|wing zeugopod bone|arm zeugopod bone organ|arm zeugopod bone|zeugopod bone, upper|antebrachial region bone organ|antebrachial region bone	http://purl.obolibrary.org/obo/UBERON_0003466	A bone that is part of a lower arm [Automatically generated definition].	
UBERON:0003463	trunk bone	biolink:AnatomicalEntity	mondo			bone of trunk|bone of torso|bone organ of trunk|bone organ of torso|torso bone organ|trunk bone organ|torso bone	http://purl.obolibrary.org/obo/UBERON_0003463	A bone that is part of a trunk [Automatically generated definition].	
UBERON:0003464	hindlimb bone	biolink:AnatomicalEntity	mondo			hind limb bone|bone of lower extremity|bone organ of lower extremity|bone organ of hindlimb|bone of hindlimb|bone of inferior member|bone of hind limb|bone organ of hind limb|hindlimb bone organ|hind limb bone organ	http://purl.obolibrary.org/obo/UBERON_0003464	A bone that is part of a hindlimb region. Examples: any pes phalanx, femur. Counter-examples: ischium, pubis (they are part of the pelvic girdle)	
CHEBI:24839	inorganic salt	biolink:ChemicalSubstance	mondo			anorganisches Salz|inorganic salts	http://purl.obolibrary.org/obo/CHEBI_24839		
MONDO:0001642	hordeolum externum	biolink:Disease	mondo	ICD10:H00.03|ICD10:H00.01|SCTID:1489008|UMLS:C0019919|DOID:13134|ICD9:373.11		external stye	http://purl.obolibrary.org/obo/MONDO_0001642	A hordeolum that results from obstruction and infection of an eyelash follicle and adjacent glands of Zeis or Moll glands. Follicle obstruction may be associated with blepharitis.	SNOMEDCT:1489008|DOID:13134|UMLS:C0019919
UBERON:0022248	cerebral nerve fasciculus	biolink:AnatomicalEntity	mondo			telencephalic nerve fascicle|cerebral fascicle|nerve fascicle of telencephalon|telencephalic fascicle|cerebral fasciculus	http://purl.obolibrary.org/obo/UBERON_0022248		
MONDO:0001641	severe pre-eclampsia	biolink:Disease	mondo	COHD:433536|ICD9:642.50|DOID:13129|NCIT:C112843		Preeclampsia with severe features|severe preeclampsia|severe pre-eclampsia, with delivery|antepartum severe pre-eclampsia|postpartum severe pre-eclampsia	http://purl.obolibrary.org/obo/MONDO_0001641	Preeclampsia with a systolic blood pressure of 160 mmHg or higher, or a diastolic blood pressure of 110 mmHg or higher on two occasions at least 4 hours apart while on bedrest. It is associated with thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances.	DOID:13129|NCIT:C112843
CHEBI:25213	metal cation	biolink:ChemicalSubstance	mondo			metal cations|a metal cation	http://purl.obolibrary.org/obo/CHEBI_25213		
MONDO:0001640	gonococcal spondylitis	biolink:Disease	mondo	SCTID:53664003|ICD9:098.53|UMLS:C0153219|DOID:13127			http://purl.obolibrary.org/obo/MONDO_0001640	An spondylitis caused by infection with Neisseria gonorrhoeae.	DOID:13127|SNOMEDCT:53664003|UMLS:C0153219
CHEBI:25212	metabolite	biolink:ChemicalSubstance	mondo			secondary metabolites|metabolite|primary metabolites|metabolites	http://purl.obolibrary.org/obo/CHEBI_25212	Any intermediate or product resulting from metabolism. The term 'metabolite' subsumes the classes commonly known as primary and secondary metabolites.	
MONDO:0001646	benign secondary hypertension	biolink:Disease	mondo	DOID:13143|ICD9:405.19|COHD:314958|UMLS:C0155620|ICD9:405.1|SCTID:194785008			http://purl.obolibrary.org/obo/MONDO_0001646	Mild to moderate high blood pressure that is caused by an underlying medical condition.	DOID:13143|UMLS:C0155620|SNOMEDCT:194785008|NCIT:C3658
MONDO:0001645	crescentic glomerulonephritis (disease)	biolink:Disease	mondo	NCIT:C35444|HP:0008653|ICD9:580.4|SCTID:236398000|DOID:13139		crescentic glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0001645	A histopathologic term for a pattern of diseases characterized by extensive crescent formation in the glomeruli; patients present clinically with rapid deterioration of renal function, and possible progression to end-stage renal failure within weeks or months.	NCIT:C35444|SNOMEDCT:236398000|DOID:13139
UBERON:0010260	umbilical blood vessel	biolink:AnatomicalEntity	mondo			umbilical vessel|allantoic vessel|umbilical cord blood vessel|umbilical vasculature|umbilical cord blood vessels	http://purl.obolibrary.org/obo/UBERON_0010260	One of the three blood vessels, usually one large umbilical vein and two small umbilical arteries, buried within Wharton's jelly, that transport blood to and from the placenta, where exchange between the mother and fetus takes place; the umbilical vein carries oxygenated, nutrient-rich blood from the placenta to the fetus, and the umbilical arteries carry deoxygenated, nutrient-depleted blood from the fetus to the placenta.	
MONDO:0001644	acute proliferative glomerulonephritis	biolink:Disease	mondo	NCIT:C35443|UMLS:C0341692|COHD:259070|SCTID:197579006|DOID:13138|ICD9:580.0		proliferative glomerulonephritis, acute|acute glomerulonephritis with lesion of proliferative glomerulonephritis|post-streptococcal glomerulonephritis|post-streptococcal glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0001644	Inflammation of the glomeruli status post infection with nephritogenic streptococci, most often group A beta hemolytic streptococcus.	NCIT:C35443|DOID:13138|SNOMEDCT:197579006|UMLS:C0341692
MONDO:0001643	exophthalmic ophthalmoplegia	biolink:Disease	mondo	COHD:374359|ICD9:376.22|SCTID:69763009|DOID:13135|UMLS:C0152135			http://purl.obolibrary.org/obo/MONDO_0001643		DOID:13135|SNOMEDCT:69763009|UMLS:C0152135
CHEBI:25216	metalloporphyrin	biolink:ChemicalSubstance	mondo			metalloporphyrins|metaloporphyrins	http://purl.obolibrary.org/obo/CHEBI_25216		
MONDO:0013628	hyperphosphatasia with intellectual disability syndrome 3	biolink:Disease	mondo	OMIM:614207|UMLS:C3280153		HPMRS3|hyperphosphatasia with intellectual disability syndrome 3; HPMRS3|mental retardation, autosomal recessive 17|PGAP2 hyperphosphatasia-intellectual disability syndrome|intellectual disability, autosomal recessive 21|hyperphosphatasia with intellectual disability syndrome 3|hyperphosphatasia with mental retardation syndrome 3; HPMRS3|hyperphosphatasia with mental retardation syndrome 3|mental retardation, autosomal recessive 21|hyperphosphatasia with intellectual disability syndrome type 3|glycosylphosphatidylinositol biosynthesis defect 8|intellectual disability, autosomal recessive 17|hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP2|hyperphosphatasia with mental retardation syndrome type 3	http://purl.obolibrary.org/obo/MONDO_0013628	Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP2 gene.	http://identifiers.org/omim/614207|UMLS:C3280153
MONDO:0013629	MRT16	biolink:Disease	mondo	OMIM:614208|UMLS:C3280154		intellectual disability, autosomal recessive 16|mental retardation, autosomal recessive 16|MRT16|intellectual disability, autosomal recessive 16; MRT16|mental retardation, autosomal recessive 16; MRT16	http://purl.obolibrary.org/obo/MONDO_0013629		http://identifiers.org/omim/614208|UMLS:C3280154
MONDO:0013626	psoriasis 14, pustular	biolink:Disease	mondo	ICD9:696.1|DOID:0080474|OMIM:614204|SCTID:83839005		palmoplantar pustulosis|Psorp|acrodermatitis continua of Hallopeau|generalized pustular psoriasis|psoriasis 14, pustular; PSORS14|IL36RN psoriasis|psoriasis 14, pustular|Interleukin 36 receptor antagonist deficiency|psoriasis caused by mutation in IL36RN|PSORS14	http://purl.obolibrary.org/obo/MONDO_0013626	Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene.	DOID:0080474|SNOMEDCT:83839005|http://identifiers.org/omim/614204
CHEBI:76807	EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor	biolink:ChemicalSubstance	mondo			EC 3.5.1.* inhibitors|EC 3.5.1.* inhibitor|EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitors|non-peptide linear amide C-N hydrolase (EC 3.5.1.*) inhibitors|non-peptide linear amide C-N hydrolase (EC 3.5.1.*) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76807	An EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor that interferes with the action of any non-peptide linear amide C-N hydrolase (EC 3.5.1.*).	
MONDO:0013627	3M syndrome 3	biolink:Disease	mondo	UMLS:C3280146|OMIM:614205		three M syndrome type 3|three M syndrome 3; 3M3|3M syndrome 3|CCDC8 3-M syndrome|3M3|three M syndrome 3|3-M syndrome caused by mutation in CCDC8	http://purl.obolibrary.org/obo/MONDO_0013627	Any 3-M syndrome in which the cause of the disease is a mutation in the CCDC8 gene.	UMLS:C3280146|http://identifiers.org/omim/614205
HP:0010442	Polydactyly	biolink:PhenotypicFeature	mondo	Fyler:4103|UMLS:C0152427|MSH:D017689|SNOMEDCT_US:367506006		More than five fingers or toes on hands or feet	http://purl.obolibrary.org/obo/HP_0010442	A congenital anomaly characterized by the presence of supernumerary fingers or toes.	
MONDO:0013631	LNCR5	biolink:Disease	mondo	OMIM:614210|UMLS:C3280156		lung cancer susceptibility 5; LNCR5|LNCR5|lung cancer susceptibility 5	http://purl.obolibrary.org/obo/MONDO_0013631		UMLS:C3280156|http://identifiers.org/omim/614210
MONDO:0013632	autosomal dominant nonsyndromic deafness 33	biolink:Disease	mondo	OMIM:614211|ICD10:H90.3|DOID:0110562		autosomal dominant nonsyndromic deafness type 33|deafness, autosomal dominant 33|deafness, autosomal dominant 33; DFNA33|DFNA33|autosomal dominant deafness 33	http://purl.obolibrary.org/obo/MONDO_0013632	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 13q34.	DOID:0110562|http://identifiers.org/omim/614211
HGNC:5147	HPD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5147		
UBERON:0010258	mesenchyme from rhombencephalic neural crest	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010258	Mesenchyme that develops_from a rhombencephalon neural crest.	
MONDO:0013630	Meckel syndrome, type 9	biolink:Disease	mondo	UMLS:C3280155|OMIM:614209		MKS9|Meckel syndrome, type 9; MKS9|B9D1 Meckel syndrome|Meckel syndrome, type 9|Meckel syndrome caused by mutation in B9D1	http://purl.obolibrary.org/obo/MONDO_0013630	Any Meckel syndrome in which the cause of the disease is a mutation in the B9D1 gene.	UMLS:C3280155|http://identifiers.org/omim/614209
UBERON:0010259	1st arch mesenchyme from neural crest	biolink:AnatomicalEntity	mondo			mesenchyme derived from neural crest of mesenchyme of 1st arch|branchial arch 1 mesenchyme from neural crest|pharyngeal arch 1 mesenchyme from neural crest|neural crest derived arch 1 mesenchyme	http://purl.obolibrary.org/obo/UBERON_0010259	Mesenchyme that develops_from a neural crest and is part of a 1st arch mesenchyme.	
MONDO:0013635	Adams-Oliver syndrome 2	biolink:Disease	mondo	OMIM:614219|UMLS:C3280182		DOCK6 Adams-Oliver syndrome|Adams-Oliver syndrome caused by mutation in DOCK6|Adams-Oliver syndrome 2; AOS2|AOS2|Adams-Oliver syndrome type 2|Adams-Oliver syndrome 2	http://purl.obolibrary.org/obo/MONDO_0013635	Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DOCK6 gene.	UMLS:C3280182|http://identifiers.org/omim/614219
MONDO:0013636	primary biliary cholangitis 4	biolink:Disease	mondo	UMLS:C3280201|OMIM:614220		PBC4|biliary cirrhosis, primary, 4|biliary cirrhosis, primary, 4; PBC4	http://purl.obolibrary.org/obo/MONDO_0013636		UMLS:C3280201|http://identifiers.org/omim/614220
MONDO:0013633	encephalopathy, acute, infection-induced, susceptibility to, 4	biolink:Disease	mondo	OMIM:614212	predisposition	encephalopathy, acute, infection-induced caused by mutation in CPT2|CPT2 encephalopathy, acute, infection-induced|encephalopathy, acute, infection-induced, susceptibility to, 4; IIAE4|encephalopathy, acute, infection-induced, susceptibility to, type 4|encephalopathy, acute, infection-induced, susceptibility to, 4|IIAE4	http://purl.obolibrary.org/obo/MONDO_0013633	Any encephalopathy, acute, infection-induced in which the cause of the disease is a mutation in the CPT2 gene.	http://identifiers.org/omim/614212
MONDO:0013634	neuropathy, hereditary sensory, type 2C	biolink:Disease	mondo	DOID:0070147|UMLS:C3280168|OMIM:614213		neuropathy, hereditary sensory, type IIC; HSN2C|hereditary sensory neuropathy type 2C|KIF1A hereditary sensory and autonomic neuropathy type 2|neuropathy, hereditary sensory, type IIC|HSN2C|hereditary sensory and autonomic neuropathy type 2 caused by mutation in KIF1A|hereditary sensory neuropathy type IIC	http://purl.obolibrary.org/obo/MONDO_0013634	Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the KIF1A gene.	UMLS:C3280168|DOID:0070147|http://identifiers.org/omim/614213
MONDO:0001639	deficiency anemia	biolink:Disease	mondo	ICD9:281.9|ICD9:281.8|DOID:13121|UMLS:C0041782|SCTID:267513007		deficiency anemias|unspecified deficiency anemia	http://purl.obolibrary.org/obo/MONDO_0001639		SNOMEDCT:267513007|DOID:13121|UMLS:C0041782
MONDO:0001638	protein-deficiency anemia	biolink:Disease	mondo	ICD10:D53.0|UMLS:C0154290|DOID:13120|ICD9:281.4|COHD:436083|SCTID:191156009		anemia due to protein deficiency	http://purl.obolibrary.org/obo/MONDO_0001638		SNOMEDCT:191156009|DOID:13120|UMLS:C0154290
MONDO:0001637	cicatricial entropion	biolink:Disease	mondo	SCTID:67383002|UMLS:C0155191|ICD9:374.04|COHD:374650|DOID:13113			http://purl.obolibrary.org/obo/MONDO_0001637		DOID:13113|UMLS:C0155191|SNOMEDCT:67383002
MONDO:0001636	mechanical entropion	biolink:Disease	mondo	DOID:13112|ICD9:374.02|COHD:376418|UMLS:C0155189|SCTID:38683003			http://purl.obolibrary.org/obo/MONDO_0001636		SNOMEDCT:38683003|DOID:13112|UMLS:C0155189
HGNC:5141	HP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5141		
HGNC:5144	HPCA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5144		
MONDO:0001653	prepuce cancer	biolink:Disease	mondo	DOID:13168|UMLS:C0153598|ICD10:C60.0|SCTID:363450006|ICD9:187.1		cancer of prepuce|prepuce cancer|malignant prepuce neoplasm|malignant neoplasm of foreskin|malignant tumor of foreskin|malignant neoplasm of prepuce	http://purl.obolibrary.org/obo/MONDO_0001653	A malignant neoplasm involving the prepuce.	DOID:13168|SNOMEDCT:363450006|UMLS:C0153598
MONDO:0001652	scrotum melanoma	biolink:Disease	mondo	DOID:13160|NCIT:C7361|UMLS:C1331544		melanoma (disease) of scrotum|scrotum melanoma (disease)|melanoma of the scrotum|melanoma of scrotum|scrotal melanoma	http://purl.obolibrary.org/obo/MONDO_0001652	A melanoma (disease) that involves the scrotum.	UMLS:C1331544|DOID:13160|NCIT:C7361
MONDO:0001651	scrotum squamous cell carcinoma	biolink:Disease	mondo	SCTID:276860003|DOID:13159|UMLS:C0349551|NCIT:C4643		squamous cell carcinoma of scrotum|scrotum squamous cell carcinoma|scrotal squamous cell carcinoma|squamous cell carcinoma of the scrotum	http://purl.obolibrary.org/obo/MONDO_0001651	A rare squamous cell carcinoma that arises from the scrotum. It has been associated with exposure to environmental and industrial carcinogens. The prognosis depends on the extent of lymph node involvement.	SNOMEDCT:276860003|DOID:13159|UMLS:C0349551|NCIT:C4643
MONDO:0001650	acute cystitis (disease)	biolink:Disease	mondo	ICD9:595.0|UMLS:C0149523|COHD:194081|DOID:13148|SCTID:68226007|NCIT:C26934|ICD10:N30.0		urinary tract infection|cystitis, acute|acute cystitis	http://purl.obolibrary.org/obo/MONDO_0001650	An acute infection of the bladder. It is usually caused by bacteria. Signs and symptoms include increased frequency of urination, pain or burning during urination, fever, cloudy or bloody urine, and suprapubic pain.	DOID:13148|UMLS:C0149523|NCIT:C26934|SNOMEDCT:68226007
MONDO:0001657	brain cancer	biolink:Disease	mondo	ICD9:191.8|ICD9:191|ICD9:191.9|SCTID:428061005|ICD10:C71|GARD:0009307|CSP:2006-2736|ICD10:C71.9|ICD9:239.6|DOID:1319|MESH:D001932|NCIT:C3568		neoplasm of brain|cancer of the brain|malignant primary brain neoplasm|neoplasm of unspecified nature of brain|adult malignant brain neoplasm|brain neoplasm, adult|malignant primary brain tumor|malignant tumor of adult brain|malignant brain tumour|brain neoplasms, malignant|malignant neoplasm of brain|brain neoplasm|malignant tumor of brain|brain tumor, adult|primary malignant neoplasm of brain|malignant neoplasm of the brain|malignant brain neoplasm|BT - brain tumour|malignant brain tumor|primary brain neoplasm|adult brain tumor|brain cancer|tumor of the brain|primary brain tumor|cancer of brain|malignant tumor of the brain	http://purl.obolibrary.org/obo/MONDO_0001657	A primary or metastatic malignant neoplasm affecting the brain.	MESH:D001932|DOID:1319|NCIT:C3568|SNOMEDCT:428061005
MONDO:0001656	megaesophagus	biolink:Disease	mondo	NCIT:C34811|UMLS:C0025164|SCTID:70667005|DOID:13186			http://purl.obolibrary.org/obo/MONDO_0001656	An abnormal dilation of the esophagus not due to obstruction.	UMLS:C0025164|DOID:13186|NCIT:C34811|SNOMEDCT:70667005
MONDO:0001655	dissociated nystagmus	biolink:Disease	mondo	DOID:13174|ICD10:H55.04|UMLS:C0155380|SCTID:9520006|ICD9:379.55		dissociated nystagmus	http://purl.obolibrary.org/obo/MONDO_0001655		DOID:13174|SNOMEDCT:9520006|UMLS:C0155380
MONDO:0001654	spermatic cord cancer	biolink:Disease	mondo	DOID:13169|ICD10:C63.1|NCIT:C3559|ICD9:187.6|UMLS:C0153603|SCTID:363453008		malignant neoplasm of the spermatic cord|malignant spermatic cord neoplasm|malignant spermatic cord tumor|cancer of spermatic cord|malignant tumor of the spermatic cord|malignant tumor of spermatic cord|spermatic cord cancer|spermatic cord Ca|malignant neoplasm of spermatic cord	http://purl.obolibrary.org/obo/MONDO_0001654	A malignant neoplasm involving the spermatic cord.	SNOMEDCT:363453008|DOID:13169|UMLS:C0153603|NCIT:C3559
CHEBI:76815	EC 2.7.7.* (nucleotidyltransferase) inhibitor	biolink:ChemicalSubstance	mondo			inhibitors of nucleotidyltransferases (EC 2.7.7.*)|inhibitors of nucleotidyltransferases|inhibitor of nucleotidyltransferases|nucleotidyltransferase (EC 2.7.7.*) inhibitor|nucleotidyltransferase inhibitor|nucleotidyltransferase inhibitors|EC 2.7.7.* (nucleotidyltransferase) inhibitors|nucleotidyltransferase (EC 2.7.7.*) inhibitors|inhibitor of nucleotidyltransferases (EC 2.7.7.*)	http://purl.obolibrary.org/obo/CHEBI_76815	An EC 2.7.* (P-containing group transferase) inhibitor that interferes with the action of any nucleotidyltransferase (EC 2.7.7.*).	
MONDO:0013617	overgrowth-macrocephaly-facial dysmorphism syndrome	biolink:Disease	mondo	OMIM:614192|ICD10:Q87.3|Orphanet:137634|SCTID:722122000|UMLS:C3280095	ordo_malformation_syndrome	macrocephaly, macrosomia, and facial dysmorphism syndrome|macrocephaly, macrosomia, and facial dysmorphism syndrome; MMFD|RNF135-related overgrowth syndrome|MMFD	http://purl.obolibrary.org/obo/MONDO_0013617	This syndrome is characterised by tall stature, learning difficulties and facial dysmorphism.	http://identifiers.org/omim/614192|ORPHA:137634|SNOMEDCT:722122000|UMLS:C3280095
UBERON:0010252	1st arch mandibular mesenchyme from neural crest	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010252	Mesenchyme that develops_from a neural crest and is part of a 1st arch mandibular mesenchyme.	
MONDO:0013618	craniofacial anomalies and anterior segment dysgenesis syndrome	biolink:Disease	mondo	OMIM:614195|UMLS:C3280099		craniofacial anomalies and anterior segment dysgenesis syndrome; CAASDS|CAASDS|craniofacial anomalies and anterior segment dysgenesis syndrome	http://purl.obolibrary.org/obo/MONDO_0013618		http://identifiers.org/omim/614195|UMLS:C3280099
UBERON:0010253	1st arch maxillary mesenchyme from neural crest	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010253	Mesenchyme that develops_from a neural crest and is part of a 1st arch maxillary mesenchyme.	
MONDO:0013615	craniosynostosis and dental anomalies	biolink:Disease	mondo	Orphanet:284149|UMLS:C3280073|OMIM:614188|ICD10:Q87.0	ordo_malformation_syndrome	Kreiborg-Pakistani syndrome|craniosynostosis and dental anomalies; CRSDA|CRSDA|craniosynostosis and dental anomalies|craniosynostosis-dental anomalies	http://purl.obolibrary.org/obo/MONDO_0013615		http://identifiers.org/omim/614188|ORPHA:284149|UMLS:C3280073
MONDO:0013616	pigmented nodular adrenocortical disease, primary, 3	biolink:Disease	mondo	OMIM:614190|UMLS:C3280094		pigmented nodular adrenocortical disease, primary, 3|Cushing syndrome, adrenal, due to PPNAD3|primary pigmented nodular adrenocortical disease caused by mutation in PDE8B|PDE8B primary pigmented nodular adrenocortical disease|pigmented nodular adrenocortical disease, primary, 3; PPNAD3|pigmented nodular adrenocortical disease, primary, type 3|PPNAD3	http://purl.obolibrary.org/obo/MONDO_0013616	Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE8B gene.	http://identifiers.org/omim/614190|UMLS:C3280094
UBERON:0010256	4th arch mesenchyme from neural crest	biolink:AnatomicalEntity	mondo			4th pharyngeal arch mesenchyme derived from neural crest|mesenchyme derived from neural crest of mesenchyme of 4th arch|branchial arch 4 mesenchyme from neural crest|pharyngeal arch 4 mesenchyme from neural crest|neural crest derived arch 4 mesenchyme	http://purl.obolibrary.org/obo/UBERON_0010256	Mesenchyme that develops_from a neural crest and is part of a 4th arch mesenchyme.	
UBERON:0010257	6th arch mesenchyme from neural crest	biolink:AnatomicalEntity	mondo			neural crest derived arch 6 mesenchyme|pharyngeal arch 6 mesenchyme from neural crest|branchial arch 6 mesenchyme from neural crest	http://purl.obolibrary.org/obo/UBERON_0010257	Mesenchyme that develops_from a neural crest and is part of a 6th arch mesenchyme.	
MONDO:0013619	nephrotic syndrome, type 6	biolink:Disease	mondo	OMIM:614196|DOID:0080384|UMLS:C3280100		NPHS6|nephrotic syndrome, type 6|PTPRO nephrotic syndrome|nephrotic syndrome, type 6; NPHS6|nephrotic syndrome caused by mutation in PTPRO	http://purl.obolibrary.org/obo/MONDO_0013619	Any nephrotic syndrome in which the cause of the disease is a mutation in the PTPRO gene.	http://identifiers.org/omim/614196|DOID:0080384|UMLS:C3280100
UBERON:0010254	2nd arch mesenchyme from neural crest	biolink:AnatomicalEntity	mondo			branchial arch 2 mesenchyme from neural crest|pharyngeal arch 2 mesenchyme from neural crest|neural crest derived arch 2 mesenchyme	http://purl.obolibrary.org/obo/UBERON_0010254	Mesenchyme that develops_from a neural crest and is part of a 2nd arch mesenchyme.	
UBERON:0010255	3rd arch mesenchyme from neural crest	biolink:AnatomicalEntity	mondo			3rd pharyngeal arch mesenchyme derived from neural crest|mesenchyme derived from neural crest of mesenchyme of 3rd arch|branchial arch 3 mesenchyme from neural crest|pharyngeal arch 3 mesenchyme from neural crest|neural crest derived arch 3 mesenchyme	http://purl.obolibrary.org/obo/UBERON_0010255	Mesenchyme that develops_from a neural crest and is part of a 3rd arch mesenchyme.	
MONDO:0013620	congenital myasthenic syndrome 16	biolink:Disease	mondo	DOID:0110682|OMIM:614198		congenital myasthenic syndrome caused by mutation in SCN4A|SCN4A congenital myasthenic syndrome|myasthenic syndrome, congenital, Acetazolamide-responsive|congenital myasthenic syndrome acetazolamide-responsive|myasthenic syndrome, congenital, 16; CMS16|myasthenic syndrome, congenital, type 16|congenital myasthenic syndrome type 16|CMS16|myasthenic syndrome, congenital, 16	http://purl.obolibrary.org/obo/MONDO_0013620	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SCN4A gene.	DOID:0110682|http://identifiers.org/omim/614198
HGNC:5157	HPRT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5157		
MONDO:0013621	LAMB2-related infantile-onset nephrotic syndrome	biolink:Disease	mondo	OMIM:614199|Orphanet:306507|ICD10:N04.8|UMLS:C3280113	ordo_disease	nephrotic syndrome, type 5, with or without ocular abnormalities; NPHS5|NPHS5|nephrotic syndrome, type 5, with or without ocular abnormalities	http://purl.obolibrary.org/obo/MONDO_0013621	LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal.	UMLS:C3280113|http://identifiers.org/omim/614199|ORPHA:306507
MONDO:0013624	intellectual disability, autosomal recessive 15	biolink:Disease	mondo	OMIM:614202|UMLS:C3280127		autosomal recessive non-syndromic intellectual disability caused by mutation in MAN1B1|mental retardation, autosomal recessive 15|mental retardation, autosomal recessive type 15|MAN1B1 autosomal recessive non-syndromic intellectual disability|MRT15|mental retardation, autosomal recessive 15; MRT15	http://purl.obolibrary.org/obo/MONDO_0013624	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MAN1B1 gene.	UMLS:C3280127|http://identifiers.org/omim/614202
MONDO:0013625	Parkinson disease 17	biolink:Disease	mondo	UMLS:C3280133|DOID:0060897|OMIM:614203		Parkinson disease 17; PARK17|PARK17|Parkinson disease type 17|Parkinson disease caused by mutation in VPS35|Parkinson's disease 17|Parkinson disease 17|autosomal dominant Parkinson disease 17|VPS35 Parkinson disease	http://purl.obolibrary.org/obo/MONDO_0013625	Any Parkinson disease in which the cause of the disease is a mutation in the VPS35 gene.	UMLS:C3280133|DOID:0060897|http://identifiers.org/omim/614203
MONDO:0013622	platelet-type bleeding disorder 9	biolink:Disease	mondo	ICD10:D69.8|MESH:C566000|OMIM:614200|Orphanet:98886|DOID:0111045	ordo_etiological_subtype	bleeding disorder, platelet-type, 9; BDPLT9|inherited bleeding disorder, platelet-type caused by mutation in ITGA2|GP Ia deficiency|collagen platelet receptor deficiency|BDPLT9|ITGA2 inherited bleeding disorder, platelet-type|glycoprotein Ia deficiency|bleeding diathesis due to integrin alpha2-beta1 deficiency|bleeding disorder, platelet-type, 9	http://purl.obolibrary.org/obo/MONDO_0013622	Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ITGA2 gene.	MESH:C566000|DOID:0111045|ORPHA:98886|http://identifiers.org/omim/614200
MONDO:0013623	platelet-type bleeding disorder 11	biolink:Disease	mondo	Orphanet:98885|UMLS:C3280120|GARD:0013293|ICD10:D69.8|SCTID:765977002|OMIM:614201|DOID:0111057	ordo_etiological_subtype	platelet-type bleeding disorder-11|GP VI deficiency|bleeding disorder, platelet-type, 11; BDPLT11|BDPLT11|inherited bleeding disorder, platelet-type caused by mutation in GP6|bleeding disorder, platelet-type, 11|glycoprotein VI deficiency|bleeding diathesis due to glycoprotein VI deficiency|GP6 inherited bleeding disorder, platelet-type|glycoprotein 6 deficiency|GP 6 deficiency	http://purl.obolibrary.org/obo/MONDO_0013623	Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene.	DOID:0111057|ORPHA:98885|UMLS:C3280120|SNOMEDCT:765977002|http://identifiers.org/omim/614201
MONDO:0001649	fungal esophagitis	biolink:Disease	mondo	NCIT:C27107|ICD9:117.9|SCTID:235602008|UMLS:C0341109|DOID:13147		fungal esophagitis	http://purl.obolibrary.org/obo/MONDO_0001649	Infection of the esophagus caused by fungi, most often candida albicans and candida tropicalis. It usually affects patients with immunodeficiency disorders or diabetes mellitus. Symptoms include dysphagia and pain on swallowing.	SNOMEDCT:235602008|DOID:13147|UMLS:C0341109|NCIT:C27107
MONDO:0001648	esophageal candidiasis	biolink:Disease	mondo	NCIT:C27027|ICD9:112.84|UMLS:C0239295|ICD10:B37.81|SCTID:20639004|DOID:13146		esophageal thrush|candidal esophagitis|esophageal moniliasis|candidiasis of the esophagus|Candida esophagitis	http://purl.obolibrary.org/obo/MONDO_0001648	Esophagitis resulting from Candida.	SNOMEDCT:20639004|DOID:13146|NCIT:C27027|UMLS:C0239295
MONDO:0001647	benign renovascular hypertension	biolink:Disease	mondo	ICD9:405.11|DOID:13145			http://purl.obolibrary.org/obo/MONDO_0001647		DOID:13145
HGNC:5154	HPGD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5154		
MONDO:0001620	louse-borne relapsing fever	biolink:Disease	mondo	NCIT:C128426|ICD9:087.0|UMLS:C0152061|COHD:443908|ICD10:A68.0|SCTID:14683004|DOID:13035		Relapsing fever, louse-borne	http://purl.obolibrary.org/obo/MONDO_0001620	An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected lice; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated.	SNOMEDCT:14683004|DOID:13035|NCIT:C128426|UMLS:C0152061
CHEBI:76823	EC 6.3.1.* (acid-ammonia/amine ligase) inhibitor	biolink:ChemicalSubstance	mondo			EC 6.3.1.* (acid-ammonia/amine ligase) inhibitors|acid-ammonia (or amine) ligase inhibitors|EC 6.3.1.* inhibitor|EC 6.3.1.* inhibitors|acid-ammonia (or amine) ligase inhibitor	http://purl.obolibrary.org/obo/CHEBI_76823	An EC 6.3.* (C-N bond-forming ligase) inhibitor that interferes with the action of any acid-ammonia (or amine) ligase (EC 6.3.1.*).	
MONDO:0001624	acute sphenoidal sinusitis	biolink:Disease	mondo	ICD10:J01.30|DOID:13046|ICD10:J01.3|ICD9:461.3|SCTID:77919000|COHD:137900|UMLS:C0155807		sphenoidal sinus -acute|sphenoid sinusitis, acute|acute sphenoid sinusitis	http://purl.obolibrary.org/obo/MONDO_0001624	Acute form of sphenoid sinusitis.	DOID:13046|SNOMEDCT:77919000|UMLS:C0155807
MONDO:0001623	cicatricial lagophthalmos (disease)	biolink:Disease	mondo	UMLS:C0155199|HP:0030004|COHD:442113|ICD10:H02.21|ICD9:374.23|DOID:13038		cicatricial lagophthalmos	http://purl.obolibrary.org/obo/MONDO_0001623		DOID:13038|UMLS:C0155199
MONDO:0001622	mechanical lagophthalmos	biolink:Disease	mondo	SCTID:21783006|ICD9:374.22|COHD:375268|UMLS:C0155198|ICD10:H02.22|DOID:13037			http://purl.obolibrary.org/obo/MONDO_0001622		DOID:13037|UMLS:C0155198|SNOMEDCT:21783006
MONDO:0001621	tick-borne relapsing fever	biolink:Disease	mondo	NCIT:C34976|ICD9:087.1|SCTID:10301003|ICD10:A68.1|UMLS:C0035022|COHD:438963|DOID:13036		Relapsing fever, tick-borne	http://purl.obolibrary.org/obo/MONDO_0001621	An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected ticks; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated.	DOID:13036|NCIT:C34976|UMLS:C0035022|SNOMEDCT:10301003
MONDO:0013606	Hermansky-Pudlak syndrome 9	biolink:Disease	mondo	DOID:0060547|UMLS:C3280026|OMIM:614171|ICD10:E70.3|Orphanet:280663	ordo_clinical_subtype	Hermansky-Pudlak syndrome 9; HPS9|Hermansky-Pudlak syndrome type 9|Hermansky-Pudlak syndrome caused by mutation in BLOC1S6|Hermansky-Pudlak syndrome 9|HPS9|BLOC1S6 Hermansky-Pudlak syndrome	http://purl.obolibrary.org/obo/MONDO_0013606	Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene.	ORPHA:280663|http://identifiers.org/omim/614171|UMLS:C3280026|DOID:0060547
MONDO:0013607	monocytopenia with susceptibility to infections	biolink:Disease	mondo	UMLS:C3280030|GARD:0010934|ICD10:D72.8|Orphanet:228423|OMIM:614172	ordo_disease|predisposition	monocyte-B-natural killer-dendritic cell deficiency syndrome|combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections|immunodeficiency type 21|immunodeficiency 21|immunodeficiency 21; IMD21|monocytopenia with susceptibility to mycobacterial, fungal, and Papillomavirus infections and myelodysplasia|Dendritic cell, monocyte, B and NK lymphoid deficiency|monocytopenia and mycobacterial infection syndrome|DCML|GATA2 deficiency|combined immunodeficiency with susceptibility to mycobacterial, viral, and fungal infections|monocyte - B - natural killer - dendritic cell deficiency|MonoMAC|Dendritic cell, monocyte, B lymphocyte, and natural Killer lymphocyte deficiency|IMD21	http://purl.obolibrary.org/obo/MONDO_0013607		http://identifiers.org/omim/614172|ORPHA:228423|UMLS:C3280030
MONDO:0013604	myopia 21, autosomal dominant	biolink:Disease	mondo	UMLS:C3279997|OMIM:614167		ZNF644 myopia (disease)|MYP21|myopia (disease) caused by mutation in ZNF644|myopia 21, autosomal dominant|myopia 21, autosomal dominant; MYP21	http://purl.obolibrary.org/obo/MONDO_0013604	Any myopia (disease) in which the cause of the disease is a mutation in the ZNF644 gene.	http://identifiers.org/omim/614167|UMLS:C3279997
MONDO:0013605	brittle cornea syndrome 2	biolink:Disease	mondo	OMIM:614170|UMLS:C3280011		brittle cornea syndrome type 2|PRDM5 brittle cornea syndrome|brittle cornea syndrome 2|brittle cornea syndrome caused by mutation in PRDM5|BCS2|brittle cornea syndrome 2; BCS2	http://purl.obolibrary.org/obo/MONDO_0013605	Any brittle cornea syndrome in which the cause of the disease is a mutation in the PRDM5 gene.	http://identifiers.org/omim/614170|UMLS:C3280011
NCBITaxon:119225	Protomacleaya	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_119225		
MONDO:0013608	Joubert syndrome 13	biolink:Disease	mondo	DOID:0110982|UMLS:C3280031|OMIM:614173		Joubert syndrome 13|Joubert syndrome 13; JBTS13|JBTS13|TCTN1 Joubert syndrome|Joubert syndrome type 13|Joubert syndrome caused by mutation in TCTN1	http://purl.obolibrary.org/obo/MONDO_0013608	Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN1 gene.	DOID:0110982|http://identifiers.org/omim/614173|UMLS:C3280031
UBERON:0010243	merocrine gland	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010243	An exocrine gland whose secretions are excreted via exocytosis from secretory cells into an epithelial-walled duct or ducts and thence onto a bodily surface or into the lumen; the gland releases its product and no part of the gland is lost or damaged.	
MONDO:0013609	Meckel syndrome, type 10	biolink:Disease	mondo	OMIM:614175|UMLS:CN620433|GTR:AN1012610|UMLS:C3280036|GTR:AN1012156		B9D2 Meckel syndrome|Meckel syndrome, type 10; MKS10|Meckel syndrome, type 10|MKS10|Meckel syndrome caused by mutation in B9D2|JBTS34|Joubert syndrome 34	http://purl.obolibrary.org/obo/MONDO_0013609	Any Meckel syndrome in which the cause of the disease is a mutation in the B9D2 gene.	http://identifiers.org/omim/614175|UMLS:CN620433|UMLS:C3280036
MONDO:0013610	retinitis pigmentosa 61	biolink:Disease	mondo	DOID:0110373|OMIM:614180|UMLS:C3280041|ICD10:H35.5		retinitis pigmentosa caused by mutation in CLRN1|retinitis pigmentosa 61|RP61|retinitis pigmentosa type 61|retinitis pigmentosa 61; RP61|CLRN1 retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0013610	Any retinitis pigmentosa in which the cause of the disease is a mutation in the CLRN1 gene.	DOID:0110373|UMLS:C3280041|http://identifiers.org/omim/614180
MONDO:0013613	Leber congenital amaurosis 16	biolink:Disease	mondo	UMLS:C3280062|ICD10:H35.5|GARD:0010885|DOID:0110118|OMIM:614186	gard_rare	Leber congenital amaurosis 16|KCNJ13 Leber congenital amaurosis|Leber congenital amaurosis 16; LCA16|Leber congenital amaurosis caused by mutation in KCNJ13|LCA16|Leber congenital amaurosis type 16	http://purl.obolibrary.org/obo/MONDO_0013613	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the KCNJ13 gene.	DOID:0110118|UMLS:C3280062|http://identifiers.org/omim/614186
MONDO:0013614	hypertelorism-preauricular sinus-punctual pits-deafness syndrome	biolink:Disease	mondo	UMLS:C3280065|OMIM:614187|Orphanet:293958	ordo_malformation_syndrome	hypertelorism, preauricular sinus, punctal pits, and deafness|HPPD|hypertelorism, preauricular sinus, punctal pits, and deafness; HPPD|hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome	http://purl.obolibrary.org/obo/MONDO_0013614		UMLS:C3280065|ORPHA:293958|http://identifiers.org/omim/614187
MONDO:0013611	retinitis pigmentosa 62	biolink:Disease	mondo	DOID:0110380|UMLS:C3280042|OMIM:614181|ICD10:H35.5		retinitis pigmentosa caused by mutation in MAK|retinitis pigmentosa type 62|MAK retinitis pigmentosa|retinitis pigmentosa 62; RP62|retinitis pigmentosa 62|RP62	http://purl.obolibrary.org/obo/MONDO_0013611	Any retinitis pigmentosa in which the cause of the disease is a mutation in the MAK gene.	DOID:0110380|UMLS:C3280042|http://identifiers.org/omim/614181
MONDO:0013612	Geleophysic dysplasia 2	biolink:Disease	mondo	DOID:0111726|UMLS:C3280054|OMIM:614185		GPHYSD2|FBN1 geleophysic dysplasia|geleophysic dysplasia caused by mutation in FBN1|Geleophysic dysplasia type 2|Geleophysic dysplasia 2|GELEOPHYSIC dysplasia 2; GPHYSD2	http://purl.obolibrary.org/obo/MONDO_0013612	Any geleophysic dysplasia in which the cause of the disease is a mutation in the FBN1 gene.	DOID:0111726|UMLS:C3280054|http://identifiers.org/omim/614185
MONDO:0001617	transient global amnesia (disease)	biolink:Disease	mondo	ICD9:437.7|DOID:13027|MESH:D020236|ICD10:G45.4|NCIT:C85198|HP:0010534|GARD:0008172|COHD:437306		transient global amnesia	http://purl.obolibrary.org/obo/MONDO_0001617	A condition characterized by sudden, temporary, usually short-lived memory loss, not associated with a neurologic disorder. Affected individuals lose memory function for recent events and have a decreased ability to retain new information. It is usually a solitary event.	MESH:D020236|DOID:13027|NCIT:C85198
MONDO:0001616	lobomycosis	biolink:Disease	mondo	MESH:D060368|ICD9:116.2|DOID:13026|UMLS:C0152066|SCTID:47306003|ICD10:B48.0|EFO:1001805		cutaneous blastomycosis|infection by Loboa loboi|cutaneous lobomycosis	http://purl.obolibrary.org/obo/MONDO_0001616	A chronic, fungal, subcutaneous infection endemic in rural regions in South America and Central America. The causal organism is Lacazia labol.	UMLS:C0152066|MESH:D060368|SNOMEDCT:47306003|DOID:13026
UBERON:0022276	splenic flexure of colon	biolink:AnatomicalEntity	mondo			splenic flexure of colon|flexura coli splenica|splenic flexure|left colic flexure|left colic flexure	http://purl.obolibrary.org/obo/UBERON_0022276	The splenic (or left colic) flexure is a sharp bend between the transverse and the descending colon in the left upper quadrant of humans. The left colic flexure is near the spleen, and hence called the splenic flexure. There are two colic flexures in the transverse colon &mdash; the other being the hepatic flexure in the right upper quadrant.	
MONDO:0001615	epidemic keratoconjunctivitis	biolink:Disease	mondo	NCIT:C34590|DOID:13014|SCTID:60548004|COHD:378361|ICD10:B30.0|UMLS:C0014493|ICD9:077.1		EKC|shipyard eye	http://purl.obolibrary.org/obo/MONDO_0001615	Keratoconjunctivitis resulting from infection by adenoviruses.	UMLS:C0014493|SNOMEDCT:60548004|NCIT:C34590|DOID:13014
MONDO:0001614	intra-abdominal lymph node mast cell malignancy	biolink:Disease	mondo	DOID:13005|ICD9:202.63|SCTID:188664008|UMLS:C0153844		mast cell malignancy of intra-abdominal lymph nodes|malignant mast cell tumors involving intra-abdominal lymph nodes	http://purl.obolibrary.org/obo/MONDO_0001614		UMLS:C0153844|SNOMEDCT:188664008|DOID:13005
UBERON:0022275	colic flexure	biolink:AnatomicalEntity	mondo			flexura coli	http://purl.obolibrary.org/obo/UBERON_0022275	A sharp bend between consecutive segments of the colon.	
HGNC:5163	HPS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5163		
UBERON:0022278	nucleus of pudendal nerve	biolink:AnatomicalEntity	mondo			pudendal neural nucleus|Onuf's nucleus|nucleus of Onuf	http://purl.obolibrary.org/obo/UBERON_0022278	A nucleus in the ventral part of the anterior horn of the sacral region of the spinal cord that is the origin of the pudendal nerve.	
UBERON:0022277	hepatic flexure of colon	biolink:AnatomicalEntity	mondo			hepatic flexure of colon|right colic flexure|flexura coli heaptica|right colic flexure|hepatic flexure	http://purl.obolibrary.org/obo/UBERON_0022277	Hepatic (or the right colic) flexure is the sharp bend between the ascending and the transverse colon. The right colic flexure is adjacent to the liver, and is therefore also known as the hepatic flexure. Thus, the left colic flexure is also known as the splenic flexure (as it is close to the spleen). The hepatic flexure lies in the right upper quadrant of the abdomen in humans.	
HGNC:5166	HPV18I1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5166		
MONDO:0001619	obsolete relapsing fever	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001619		
UBERON:0022279	strand of hair on external ear	biolink:AnatomicalEntity	mondo			hair of external ear|tragus hair|hair of tragus	http://purl.obolibrary.org/obo/UBERON_0022279		
MONDO:0001618	balanoposthitis	biolink:Disease	mondo	ICD10:N47.6|COHD:436466|SCTID:46090001|UMLS:C0004691|DOID:13031|ICD9:607.1			http://purl.obolibrary.org/obo/MONDO_0001618		UMLS:C0004691|DOID:13031|SNOMEDCT:46090001
HGNC:5167	HPV18I2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5167		
MONDO:0001631	vertebral artery insufficiency	biolink:Disease	mondo	NCIT:C35123|DOID:13095|ICD9:435.1|COHD:434656|UMLS:C0042560|SCTID:34781003		vertebral artery syndrome	http://purl.obolibrary.org/obo/MONDO_0001631	A syndrome which occurs as a result of the occlusion of one of the vertebral arteries. It may be caused by atherosclerosis, embolism or hemorrhage. Collateral circulation through the circle of Willis is usually comprised as well. Clinical signs may include vertigo, nystagmus, dysarthria, ataxia and sensorimotor deficits. Clinical course may lead to persistence of neurologic deficits. Prognosis is variable with a substantial risk for recurrent infarction.	NCIT:C35123|UMLS:C0042560|DOID:13095|SNOMEDCT:34781003
MONDO:0001630	branch retinal artery occlusion	biolink:Disease	mondo	UMLS:C0006123|DOID:13094|NCIT:C34436|ICD9:362.32|COHD:437544|SCTID:50821009|ICD10:H34.23		retinal arterial branch occlusion|arterial retinal branch occlusion	http://purl.obolibrary.org/obo/MONDO_0001630	An occlusion of a branch of the retinal artery.	NCIT:C34436|SNOMEDCT:50821009|DOID:13094|UMLS:C0006123
CHEBI:76835	EC 1.1.1.* (oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor) inhibitor	biolink:ChemicalSubstance	mondo			oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor (EC 1.1.1.*) inhibitors|EC 1.1.1.* (oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+)acceptor) inhibitors|EC 1.1.1.* inhibitor|EC 1.1.1.* inhibitors|oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor (EC 1.1.1.*) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76835	An EC 1.1.* (oxidoreductase acting on donor CH-OH group) inhibitor that uses NAD(+) or NADP(+) as acceptor (EC 1.1.1.*).	
CHEBI:27869	chloroacetic acid	biolink:ChemicalSubstance	mondo			monochloroacetic acid|alpha-chloro-acetic acid|chloracetic acid|Acide monochloracetique|Acide chloroacetique|2-chloro-acetic acid|Chloroethanoic acid|CAA|2-chloroacetic acid|monochloroethanoic acid|Chloroacetic acid|chloroacetic acid|Monochloressigsaeure|2-chloro-ethanoic acid|Acide chloracetique	http://purl.obolibrary.org/obo/CHEBI_27869	A chlorocarboxylic acid that is acetic acid carrying a 2-chloro substituent.	
CHEBI:76838	EC 1.14.14.* (oxidoreductase acting on paired donors, incorporating of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor) inhibitor	biolink:ChemicalSubstance	mondo			EC 1.14.14.* inhibitors|EC 1.14.14.* (oxidoreductase acting on paired donors, incorporating of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor) inhibitors|EC 1.14.14.* inhibitor|oxidoreductase acting on paired donors, with incorporation of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor (EC 1.14.14.*) inhibitors|EC 1.14.14.* (oxidoreductase acting on paired donors, with incorporation of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor) inhibitors|oxidoreductase acting on paired donors, with incorporation of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor (EC 1.14.14.*) inhibitor|EC 1.14.14.* (oxidoreductase acting on paired donors, with incorporation of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76838	An EC 1.14.* (oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitor that interferes with the action of any such enzyme incorporating one atom of oxygen and using reduced flavin or flavoprotein as donor (EC 1.14.14.*).	
MONDO:0001635	bladder squamous papilloma	biolink:Disease	mondo	DOID:13110|NCIT:C39834|UMLS:C1511199		bladder squamous papilloma	http://purl.obolibrary.org/obo/MONDO_0001635	A rare, benign neoplasm of bladder that is composed of papillary cores with overlying histologically benign squamous epithelium.	UMLS:C1511199|DOID:13110|NCIT:C39834
MONDO:0001634	bladder leiomyoma	biolink:Disease	mondo	NCIT:C6178|DOID:13109|UMLS:C1332560		leiomyoma of the urinary bladder|leiomyoma of the bladder|leiomyoma of bladder|bladder leiomyoma|leiomyoma of urinary bladder|urinary bladder leiomyoma	http://purl.obolibrary.org/obo/MONDO_0001634	A well-circumscribed benign smooth muscle neoplasm arising from the bladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	UMLS:C1332560|DOID:13109|NCIT:C6178
MONDO:0001633	central retinal artery occlusion	biolink:Disease	mondo	SCTID:38742007|COHD:437540|UMLS:C0007688|DOID:13098|ICD10:H34.1|NCIT:C34456|ICD9:362.31		central retinal arterial occlusion	http://purl.obolibrary.org/obo/MONDO_0001633	Blockage of the central retinal artery.	NCIT:C34456|DOID:13098|SNOMEDCT:38742007|UMLS:C0007688
MONDO:0001632	intracranial arteriosclerosis	biolink:Disease	mondo	UMLS:C0007771|DOID:13097|MESH:D002537			http://purl.obolibrary.org/obo/MONDO_0001632	Vascular diseases characterized by thickening and hardening of the walls of arteries inside the skull. There are three subtypes: (1) atherosclerosis with fatty deposits in the arterial intima; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include headache; confusion; transient blindness (amaurosis fugax); speech impairment; and hemiparesis.	MESH:D002537|DOID:13097|UMLS:C0007771
CHEBI:76837	EC 1.13.11.* (oxidoreductase acting on single donors and incorporating 2 O atoms) inhibitor	biolink:ChemicalSubstance	mondo			EC 1.13.11.* (oxidoreductase acting on single donors and incorporating 2 O atoms) inhibitors|EC 1.13.11.* (oxidoreductase acting on single donors and incorporating 2 atoms of oxygen) inhibitor|oxidoreductase acting on single donors and incorporating 2 atoms of oxygen (EC 1.13.11.*) inhibitor|EC 1.13.11.* (oxidoreductase acting on single donors and incorporating 2 atoms of oxygen) inhibitors|oxidoreductase acting on single donors and incorporating 2 atoms of oxygen (EC 1.13.11.*) inhibitors|EC 1.13.11.* inhibitor|EC 1.13.11.* inhibitors	http://purl.obolibrary.org/obo/CHEBI_76837	An EC 1.13.* [oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases)] inhibitor that inhibits the action of any oxidoreductase incorporating 2 atoms of oxygen (EC 1.13.11.*).	
UBERON:0010230	eyeball of camera-type eye	biolink:AnatomicalEntity	mondo			eyeball|eye globe|eye|globe|bulbus oculi	http://purl.obolibrary.org/obo/UBERON_0010230	The core globe-shaped component of the camera-type eye.	
UBERON:0010231	anatomical line between outer ears	biolink:AnatomicalEntity	mondo			otic line|inter-otic line|inter-pinna line	http://purl.obolibrary.org/obo/UBERON_0010231		
OBO:cl#has_high_plasma_membrane_amount	has_high_plasma_membrane_amount	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/cl#has_high_plasma_membrane_amount	A relation between a cell and molecule or complex such that every instance of the cell has a high number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617).	
UBERON:0010235	uvular muscle	biolink:AnatomicalEntity	mondo			uvulae muscle|musculus uvulae muscle|azygos uvulae|musculus uvulae|uvular muscle|m. uvulae	http://purl.obolibrary.org/obo/UBERON_0010235	The musculus uvulae (azygos uvulae) is a muscle of the soft palate. It arises from the posterior nasal spine of the palatine bones and from the palatine aponeurosis. It descends to be inserted into the uvula and functions to move and shape it. It is innervated by the pharyngeal branch of the vagus nerve via the pharyngeal plexus[WP].	
UBERON:0010233	stroma of thyroid gland	biolink:AnatomicalEntity	mondo			thyroid gland stroma|thyroid stroma	http://purl.obolibrary.org/obo/UBERON_0010233	The connective tissue that supports the lobules and follicles of the thyroid gland.	
UBERON:0010227	future cardiac atrium	biolink:AnatomicalEntity	mondo			primordial cardiac atrium|primordial atrium|presumptive atrium heart tube	http://purl.obolibrary.org/obo/UBERON_0010227	Multi-tissue structure that is part of the heart tube and will become the cardiac atrium.	
UBERON:0010225	thalamic complex	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010225	A nuclear complex which in mammals consists of four parts, the hypothalamus, epithalamus, ventral thalamus, and dorsal thalamus[WP,modified].	
MONDO:0013602	paragangliomas 5	biolink:Disease	mondo	UMLS:C3279992|OMIM:614165		paragangliomas type 5|paragangliomas 5|PGL5|paraganglioma caused by mutation in SDHA|SDHA paraganglioma|paragangliomas 5; PGL5	http://purl.obolibrary.org/obo/MONDO_0013602	Any paraganglioma in which the cause of the disease is a mutation in the SDHA gene.	http://identifiers.org/omim/614165|UMLS:C3279992
MONDO:0013603	MYP20	biolink:Disease	mondo	UMLS:C3279996|OMIM:614166		MYP20|myopia 20, autosomal dominant|myopia 20, autosomal dominant; MYP20	http://purl.obolibrary.org/obo/MONDO_0013603		http://identifiers.org/omim/614166|UMLS:C3279996
MONDO:0013600	insomnia (disease)	biolink:Disease	mondo	ICD9:780.52|ICD10:G47.0|MESH:D007319|HP:0100785|NCIT:C28286|SCTID:193462001|EFO:0004698|OMIM:614163		delayed sleep phase syndrome, susceptibility to; DSPS|DSPD|insomnia|DSPS|delayed sleep phase disorder, susceptibility to|delayed sleep phase syndrome, susceptibility to|delayed sleep phase disorder, susceptibility to; DSPD	http://purl.obolibrary.org/obo/MONDO_0013600	A sleep disorder characterized by difficulty in falling asleep and/or remaining asleep.	SNOMEDCT:193462001|MESH:D007319|NCIT:C28286|http://identifiers.org/omim/614163
MONDO:0013601	gluthathione peroxidase deficiency	biolink:Disease	mondo	UMLS:C0398747|SCTID:234590006|OMIM:614164		gluthathione peroxidase deficiency|GPXD|glutathione peroxidase deficiency; GPXD|glutathione peroxidase deficiency	http://purl.obolibrary.org/obo/MONDO_0013601		http://identifiers.org/omim/614164|UMLS:C0398747|SNOMEDCT:234590006
MONDO:0001628	tinea unguium	biolink:Disease	mondo	UMLS:C0040261|MESH:D014009|UMLS:C0157701|NCIT:C112214|UMLS:C0157698|UMLS:C0157696|DOID:13074|ICD10:B35.1|UMLS:C4082762|UMLS:C0157691|UMLS:C0157690|ICD9:681.9		cellulitis and abscess of finger and toe|cellulitis and abscess of finger|cellulitis and abscess of gluteal region|dermatophytosis of nail|cellulitis and abscess|cellulitis and abscess of upper arm and forearm|dermatophytic onychomycosis|cellulitis and abscess of buttock|cellulitis and abscess of trunk|onychomycosis|nail dermatophytosis|onychomycosis due to dermatophyte|tinea unguium|dermatophytic onychia|cellulitis and abscess of face	http://purl.obolibrary.org/obo/MONDO_0001628	A fungal infection of the nail, usually caused by dermatophytes; yeasts; or nondermatophyte molds.	UMLS:C4082762|MESH:D014009|DOID:13074|UMLS:C0040261|UMLS:C0157701|UMLS:C0157696|UMLS:C0157698|UMLS:C0157690|UMLS:C0157691|NCIT:C112214
MONDO:0001627	dementia (disease)	biolink:Disease	mondo	DOID:1307|GARD:0011946|ICD9:294.8|NCIT:C4786|ICD9:294.1|COHD:4182210|SCTID:52448006|ICD9:290.8|MESH:D003704		dementia	http://purl.obolibrary.org/obo/MONDO_0001627	Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders.	NCIT:C4786|MESH:D003704|SNOMEDCT:52448006|DOID:1307
HGNC:5172	HR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5172		
UBERON:0022284	lacrimal gland bud	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0022284	the single bud-like invagination of the conjunctival fornix epithelium at the temporal aspect of the eye that signals lacrimal gland formation (Int Rev Cytol. 1996;168:1-80. Cell biology of the harderian gland)	
MONDO:0001626	traumatic glaucoma	biolink:Disease	mondo	ICD9:365.65|SCTID:68241007|DOID:13060|UMLS:C0339594|COHD:440396		glaucoma associated with ocular trauma	http://purl.obolibrary.org/obo/MONDO_0001626		UMLS:C0339594|SNOMEDCT:68241007|DOID:13060
HGNC:5173	HRAS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5173		
UBERON:0022287	tear film	biolink:AnatomicalEntity	mondo			precorneal film	http://purl.obolibrary.org/obo/UBERON_0022287	An aqueous substance that covers the anterior surface of the eyeball, keeping the cornea wet.	
MONDO:0001625	corpus luteum cyst	biolink:Disease	mondo	SCTID:386762009|ICD10:N83.1|COHD:436164|DOID:13050|ICD9:620.1		corpus luteum ovarian cyst (disease)|ovarian cyst (disease) of corpus luteum	http://purl.obolibrary.org/obo/MONDO_0001625	A ovarian cyst (disease) that involves the corpus luteum.	DOID:13050|SNOMEDCT:386762009
UBERON:0022288	surface of eyeball	biolink:AnatomicalEntity	mondo			surface of region of wall of eyeball	http://purl.obolibrary.org/obo/UBERON_0022288		
MONDO:0001629	Jaccoud syndrome	biolink:Disease	mondo	ICD9:714.4|COHD:72994|ICD10:M12.00|UMLS:C0152084|SCTID:84801008|ICD10:M12.0|DOID:13080		Jaccoud's syndrome|Jaccoud syndrome	http://purl.obolibrary.org/obo/MONDO_0001629		SNOMEDCT:84801008|UMLS:C0152084|DOID:13080
MONDO:0001686	anatomical narrow angle borderline glaucoma	biolink:Disease	mondo	DOID:13327|ICD9:365.02			http://purl.obolibrary.org/obo/MONDO_0001686		DOID:13327
MONDO:0001685	chronic follicular conjunctivitis	biolink:Disease	mondo	DOID:13326|COHD:372318|ICD10:H10.43|UMLS:C0155147|SCTID:39429002|ICD9:372.12			http://purl.obolibrary.org/obo/MONDO_0001685		SNOMEDCT:39429002|DOID:13326|UMLS:C0155147
MONDO:0001684	exocrine pancreatic insufficiency	biolink:Disease	mondo	DOID:13316|ICD10:K86.81|UMLS:C0267963|MESH:D010188|ICD9:577.8|SCTID:47367009|NCIT:C84316		exocrine pancreas insufficiency|pancreatic insufficiency|exocrine pancreatic insufficiency	http://purl.obolibrary.org/obo/MONDO_0001684	Inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. Patients present with symptoms of malabsorption syndrome, abdominal discomfort, and bloating. Causes include chronic pancreatitis, cystic fibrosis, and autoimmune disorders.	NCIT:C84316|SNOMEDCT:47367009|UMLS:C0267963|DOID:13316|MESH:D010188
MONDO:0001683	pancreatic mucinous ductal ectasia	biolink:Disease	mondo	NCIT:C5717|DOID:13313|UMLS:C1335310			http://purl.obolibrary.org/obo/MONDO_0001683		UMLS:C1335310|NCIT:C5717|DOID:13313
MONDO:0001689	hypertrophy of tongue papillae	biolink:Disease	mondo	COHD:432345|ICD10:K14.3|DOID:13333|UMLS:C0392494|SCTID:6971002|ICD9:529.3		tongue papillary hypertrophy	http://purl.obolibrary.org/obo/MONDO_0001689		DOID:13333|UMLS:C0392494|SNOMEDCT:6971002
MONDO:0001688	toxic optic neuropathy	biolink:Disease	mondo	ICD10:H46.3|UMLS:C0155303|ICD9:377.34|COHD:377570|SCTID:26125006|DOID:13329			http://purl.obolibrary.org/obo/MONDO_0001688		UMLS:C0155303|SNOMEDCT:26125006|DOID:13329
MONDO:0001687	diabetic cataract	biolink:Disease	mondo	DOID:13328|UMLS:C0011876|ICD10:H28.0|ICD9:366.41|COHD:376979|SCTID:43959009		cataract - diabetic	http://purl.obolibrary.org/obo/MONDO_0001687		SNOMEDCT:43959009|UMLS:C0011876|DOID:13328
HGNC:5181	HRG	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5181		
MONDO:0011009	muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers	biolink:Disease	mondo	UMLS:C1832665|OMIM:601170|MESH:C563378		muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers	http://purl.obolibrary.org/obo/MONDO_0011009		UMLS:C1832665|MESH:C563378|http://identifiers.org/omim/601170
MONDO:0011008	cleft lip/palate-intestinal malrotation-cardiopathy syndrome	biolink:Disease	mondo	OMIM:601165|UMLS:C2931750|MESH:C538160|ICD10:Q87.8|Orphanet:2001|SCTID:719456001|GARD:0003430	ordo_malformation_syndrome	McPherson Clemens syndrome|McPherson-Clemens syndrome|cleft LIP/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease|cleft lip, cleft palate, characteristic facies, intestinal malrotation, and lethal congenital heart disease	http://purl.obolibrary.org/obo/MONDO_0011008	Cleft lip/palate - intestinal malrotation - cardiopathy is a multiple congenital anomaly syndrome described in 5 patients to date, characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects which were lethal in 3 of the 5 patients reported. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997.	SNOMEDCT:719456001|UMLS:C2931750|http://identifiers.org/omim/601165|ORPHA:2001|MESH:C538160
MONDO:0001682	diphtheritic peritonitis	biolink:Disease	mondo	UMLS:C0152953|DOID:13310|ICD10:A36.89|SCTID:13596001|ICD9:032.83			http://purl.obolibrary.org/obo/MONDO_0001682	A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae.	SNOMEDCT:13596001|UMLS:C0152953|DOID:13310
MONDO:0001681	diphtheritic cystitis	biolink:Disease	mondo	SCTID:48278001|ICD9:032.84|ICD10:A36.85|UMLS:C0152954|DOID:13306			http://purl.obolibrary.org/obo/MONDO_0001681	A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder.	SNOMEDCT:48278001|UMLS:C0152954|DOID:13306
MONDO:0001680	vaginal mullerian papilloma	biolink:Disease	mondo	DOID:133|NCIT:C40255|UMLS:C1519926		vaginal Müllerian papilloma|vaginal Muellerian papilloma|vaginal Mullerian papilloma	http://purl.obolibrary.org/obo/MONDO_0001680	A benign papilloma that arises from the vagina in infants and young women.	UMLS:C1519926|NCIT:C40255|DOID:133
MONDO:0013675	multiple mitochondrial dysfunctions syndrome 2	biolink:Disease	mondo	Orphanet:401874|UMLS:C3280378|OMIM:614299|ICD10:E88.8|DOID:0080134	ordo_disease	multiple mitochondrial dysfunctions syndrome 2; MMDS2|multiple mitochondrial dysfunctions syndrome type 2|BOLA3 fatal multiple mitochondrial dysfunctions syndrome|BOLA3 deficiency|MMDS2|multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia; MMDS2|fatal multiple mitochondrial dysfunctions syndrome caused by mutation in BOLA3|multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia|multiple mitochondrial dysfunctions syndrome 2	http://purl.obolibrary.org/obo/MONDO_0013675	Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the BOLA3 gene.	UMLS:C3280378|http://identifiers.org/omim/614299|ORPHA:401874|DOID:0080134
MONDO:0011012	African iron overload	biolink:Disease	mondo	ICD10:E83.1|OMIM:601195|DOID:0111033|MESH:C537904|SCTID:66576001|Orphanet:139507|GARD:0008495	ordo_disease	hereditary iron overload and African Americans|African iron overload|iron overload in Africa|iron overload in Africa|Bantu siderosis	http://purl.obolibrary.org/obo/MONDO_0011012	African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis.	SNOMEDCT:66576001|ORPHA:139507|http://identifiers.org/omim/601195|DOID:0111033|MESH:C537904
MONDO:0011011	skeletal dysplasia-epilepsy-short stature syndrome	biolink:Disease	mondo	GARD:0000350|Orphanet:1858|SCTID:715428003|UMLS:C0796046|ICD10:Q87.5|OMIM:601187|MESH:C537625	ordo_malformation_syndrome	GURRIERI syndrome|Gurrieri-Sammito-Bellussi syndrome|intellectual disability, epilepsy, short stature and skeletal dysplasia|mental retardation, epilepsy, short stature and skeletal dysplasia	http://purl.obolibrary.org/obo/MONDO_0011011	Skeletal dysplasia-epilepsy-short stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait.	SNOMEDCT:715428003|UMLS:C0796046|http://identifiers.org/omim/601187|MESH:C537625|ORPHA:1858
MONDO:0013676	hypermethioninemia due to adenosine kinase deficiency	biolink:Disease	mondo	DOID:0111038|OMIM:611094|Orphanet:289290|UMLS:C3280381|UMLS:C1970196|MESH:C567015|OMIM:614300|ICD10:E72.1	ordo_disease	mental retardation, autosomal recessive 8; MRT8|hypermethioninemia encephalopathy due to ADK deficiency|mental retardation, autosomal recessive 8|hypermethioninemia due to adenosine kinase deficiency|autosomal recessive intellectual disability 8|MRT8|mental retardation, autosomal recessive 8, formerly|autosomal recessive mental retardation 8|hypermethioninemia encephalopathy due to adenosine kinase deficiency|ADK hypermethioninemia	http://purl.obolibrary.org/obo/MONDO_0013676	Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.	ORPHA:289290|UMLS:C3280381|http://identifiers.org/omim/614300|UMLS:C1970196|MESH:C567015|http://identifiers.org/omim/611094|DOID:0111038
MONDO:0013673	Wolfram-like syndrome	biolink:Disease	mondo	UMLS:C3280358|Orphanet:411590|UMLS:C4518338|EFO:0009063|MESH:C565631|DOID:0080584|SCTID:734022008|ICD10:E13.8|OMIM:614296	ordo_disease	Wolfram-like syndrome, autosomal dominant|hearing loss, progressive, with optic atrophy and/or impaired glucose Regulation|WFSL|Wolfram-like syndrome, autosomal dominant; WFSL	http://purl.obolibrary.org/obo/MONDO_0013673	Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.	UMLS:C3280358|UMLS:C4518338|http://identifiers.org/omim/614296|DOID:0080584|ORPHA:411590|MESH:C565631|SNOMEDCT:734022008
MONDO:0011014	pleuropulmonary blastoma	biolink:Disease	mondo	ICDO:8973/3|Orphanet:64742|ONCOTREE:PPB|MESH:C537516|ICD10:C34.9|ICD9:162.9|OMIM:601200|NCIT:C5669|DOID:4769|UMLS:CN072455|EFO:0009052|ICD10:C34.3|GARD:0008757|ICD10:C34.2|SCTID:707670009|ICD10:C34.1|UMLS:C1266144	ordo_disease|clingen	pleuropulmonary blastoma (morphologic abnormality)|pediatric pulmonary blastoma|pediatric pulmonary blastoma|PPB|pleuropulmonary blastoma; PPB|pulmonary blastoma of childhood|PPB familial tumor and dysplasia syndrome|pleuropulmonary blastoma|childhood pulmonary blastoma	http://purl.obolibrary.org/obo/MONDO_0011014	A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas.	NCIT:C5669|http://identifiers.org/omim/601200|ORPHA:64742|SNOMEDCT:707670009|UMLS:C1266144|MESH:C537516|UMLS:CN072455|DOID:4769
MONDO:0011013	autosomal dominant hypocalcemia 1	biolink:Disease	mondo	OMIM:601198|DOID:0090107		hypocalcemia, autosomal dominant 1; HYPOC1|CASR autosomal dominant hypocalcemia|HYPOC1|autosomal dominant hypocalcemia type 1|hypocalcemia, autosomal dominant 1, with Bartter syndrome|hypocalcemia, familial|hypocalcemia, autosomal dominant type 1|hypocalcemia, autosomal dominant 1|autosomal dominant hypocalcemia caused by mutation in CASR|hypercalciuric hypocalcemia	http://purl.obolibrary.org/obo/MONDO_0011013	Any autosomal dominant hypocalcemia in which the cause of the disease is a mutation in the CASR gene.	http://identifiers.org/omim/601198|DOID:0090107
MONDO:0013674	neurodegeneration with brain iron accumulation 4	biolink:Disease	mondo	ICD10:G23.0|Orphanet:289560|ICD9:333.0|OMIM:614298|UMLS:C3280371|DOID:0110738|SCTID:709415008|GARD:0012569	ordo_disease	mitochondrial membrane protein-associated neurodegeneration|C19orf12 neurodegeneration with brain iron accumulation|neurodegeneration with brain iron accumulation 4; NBIA4|neurodegeneration with brain iron accumulation type 4|neurodegeneration with brain iron accumulation due to C19orf12 mutation|neurodegeneration with brain iron accumulation 4|NBIA due to C19orf12 mutation|MPAN|mitochondrial Protein-associated neurodegeneration|NBIA4|neurodegeneration with brain iron accumulation caused by mutation in C19orf12	http://purl.obolibrary.org/obo/MONDO_0013674	Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities.	DOID:0110738|UMLS:C3280371|ORPHA:289560|http://identifiers.org/omim/614298|SNOMEDCT:709415008
MONDO:0013679	sclerosteosis 2	biolink:Disease	mondo	OMIM:614305|DOID:0060757|UMLS:C3280402|ICD10:M85.2		sclerosteosis 2; SOST2|sclerosteosis caused by mutation in LRP4|SOST2|sclerosteosis 2|LRP4 sclerosteosis|sclerosteosis type 2	http://purl.obolibrary.org/obo/MONDO_0013679	Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene.	UMLS:C3280402|DOID:0060757|http://identifiers.org/omim/614305
MONDO:0011016	type 1 diabetes mellitus 11	biolink:Disease	mondo	MESH:C563371|DOID:0110750|ICD10:E10|UMLS:C1832605|OMIM:601208		IDDM11|diabetes mellitus, insulin-dependent, 11|diabetes mellitus, insulin-dependent, 11; IDDM11|insulin-dependent diabetes mellitus 11	http://purl.obolibrary.org/obo/MONDO_0011016	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 14q24.3-q31.	DOID:0110750|MESH:C563371|http://identifiers.org/omim/601208|UMLS:C1832605
CHEBI:15841	polypeptide	biolink:ChemicalSubstance	mondo			Polypeptide|polypeptides|Polypeptid|polipeptido	http://purl.obolibrary.org/obo/CHEBI_15841	A peptide containing ten or more amino acid residues.	
MONDO:0011015	cataract 24	biolink:Disease	mondo	MESH:C537774|DOID:0110257|ICD10:Q12.0|UMLS:C1832609|OMIM:601202		cataract 24, anterior polar|CTRCT24|anterior polar cataract 24|cataract type 24|cataract, anterior polar, 2|CTAA2|cataract 24; CTRCT24|cataract 24|anterior polar cataract 2	http://purl.obolibrary.org/obo/MONDO_0011015	A cataract that has material basis in variation in the region 17p13.	DOID:0110257|http://identifiers.org/omim/601202|UMLS:C1832609|MESH:C537774
MONDO:0011018	brachyolmia-amelogenesis imperfecta syndrome	biolink:Disease	mondo	DOID:0090143|Orphanet:2899|GARD:5478|OMIM:601216|GARD:0005478|ICD10:Q76.3|SCTID:716195006	ordo_malformation_syndrome	skeletal dysplasia with amelogenesis imperfecta and platyspondyly|DASS|Verloes-Bourguignon syndrome|dental anomalies and short stature|STHAG6|DASS|dental anomalies and short stature|amelogenesis imperfecta and platyspondyly|selective tooth agenesis 5|tooth agenesis, selective, 6|platyspondyly-amelogenesis imperfecta syndrome|platyspondyly with amelogenesis imperfecta|dental anomalies and short stature; DASS|Verloes Bourguignon syndrome|tooth agenesis, selective, 6, formerly	http://purl.obolibrary.org/obo/MONDO_0011018	Autosomal recessive brachyolmia-amelogenesis imperfecta syndrome is an exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.	DOID:0090143|http://identifiers.org/omim/601216|SNOMEDCT:716195006|ORPHA:2899
MONDO:0013677	Emery-Dreifuss muscular dystrophy 7, autosomal dominant	biolink:Disease	mondo	DOID:0070252|UMLS:C3553060|OMIM:614302		Emery-Dreifuss muscular dystrophy 7, autosomal dominant|EDMD7|TMEM43 autosomal dominant Emery-Dreifuss muscular dystrophy|EMERY-Dreifuss muscular dystrophy 7, autosomal dominant; EDMD7|autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in TMEM43	http://purl.obolibrary.org/obo/MONDO_0013677	Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the TMEM43 gene.	UMLS:C3553060|DOID:0070252|http://identifiers.org/omim/614302
MONDO:0013678	EDICT syndrome	biolink:Disease	mondo	UMLS:C3280392|Orphanet:293936|SCTID:722439009|OMIM:614303	ordo_disease	autosomal dominant keratoconus with early-onset anterior polar cataracts|EDICT syndrome|keratoconus with cataract|EDICT syndrome; EDICT|endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome|KTCNCT|EDICT|endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning syndrome|keratoconus, familial, with early-onset anterior polar cataract|familial keratoconus with cataract	http://purl.obolibrary.org/obo/MONDO_0013678	EDICT (endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning) syndrome is a very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia.	UMLS:C3280392|ORPHA:293936|http://identifiers.org/omim/614303|SNOMEDCT:722439009
MONDO:0011017	Naxos disease	biolink:Disease	mondo	MESH:C538346|ICD10:Q87.8|SCTID:715535009|Orphanet:34217|UMLS:C1832600|GARD:0009795|OMIM:601214|DOID:0080551	gard_rare|ordo_disease	palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair|keratoderma with woolly hair type I|keratosis palmoplantaris arrythmogenic cardiomyopathy woolly hair|Naxos disease|Mal De Naxos|NAXOS disease; NXD|woolly hair, palmoplantar keratoderma, and Cardiac abnormalities|KWWH type I|keratosis palmoplantaris with arrythmogenic cardiomyopathy|palmoplantar keratoderma with arrythmogenic cardiomyopathy|keratosis palmoplantaris with arrhythmogenic cardiomyopathy|NXD|palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy|woolly hair palmoplantar keratoderma cardiac abnormalities|cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities	http://purl.obolibrary.org/obo/MONDO_0011017	Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.	ORPHA:34217|http://identifiers.org/omim/601214|SNOMEDCT:715535009|MESH:C538346|UMLS:C1832600|DOID:0080551
MONDO:0013671	hydatidiform mole, recurrent, 2	biolink:Disease	mondo	OMIM:614293|UMLS:C3280352		hydatidiform MOLE, recurrent, 2; HYDM2|complete hydatidiform mole caused by mutation in KHDC3L|HYDM2|KHDC3L complete hydatidiform mole|hydatidiform Mole, complete|hydatidiform Mole, recurrent, type 2|hydatidiform mole, recurrent, 2	http://purl.obolibrary.org/obo/MONDO_0013671	Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene.	UMLS:C3280352|http://identifiers.org/omim/614293
MONDO:0013672	chromosome 15q25 deletion syndrome	biolink:Disease	mondo	OMIM:614294|UMLS:C3280355|DOID:0060396		chromosome 15q25 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0013672		UMLS:C3280355|http://identifiers.org/omim/614294|DOID:0060396
MONDO:0011010	Matthew-Wood syndrome	biolink:Disease	mondo	DOID:0050819|UMLS:C1832661|Orphanet:2470|GARD:0000713|MESH:C537768|SCTID:722458000|ICD10:Q11.2|OMIM:601186	ordo_malformation_syndrome	syndromic microphthalmia type 9|pulmonary agenesis microphthalmi and diaphragmatic defect|clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations|microphthalmia, syndromic type 9|microphthalmia, syndromic 9; MCOPS9|pulmonary agenesis, microphthalmia, and diaphragmatic defect|MCOPS9|spear syndrome|microphthalmia, isolated, with coloboma 8|microphthalmia syndromic 9|anophthalmia, clinical, with mild Facial Dysmorphism and variable malformations of the lung, heart, and diaphragm|anophthalmia-pulmonary hypoplasia syndrome|microphthalmia, syndromic 9|Matthew-Wood syndrome|anophthalmia/microphthalmia and pulmonary hypoplasia|pulmonary Hypoplasia-diaphragmatic hernia-anophthalmia-Cardiac defect|Matthew Wood syndrome|microphthalmia syndromic type 9	http://purl.obolibrary.org/obo/MONDO_0011010	Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.	SNOMEDCT:722458000|http://identifiers.org/omim/601186|ORPHA:2470|UMLS:C1832661|MESH:C537768|DOID:0050819
CHEBI:76840	EC 1.14.99.* (miscellaneous oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitor	biolink:ChemicalSubstance	mondo			miscellaneous oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.99.*) inhibitors|EC 1.14.99.* (miscellaneous oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitors|miscellaneous oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.99.*) inhibitor|EC 1.14.99.* inhibitor|EC 1.14.99.* inhibitors	http://purl.obolibrary.org/obo/CHEBI_76840	An EC 1.14.* (oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitor that interferes with the action of any enzyme in the EC 1.14.99.* (miscellaneous) category.	
MONDO:0013670	myopia, high, with cataract and vitreoretinal degeneration	biolink:Disease	mondo	OMIM:614292|UMLS:C3280346		myopia, high, with cataract and vitreoretinal degeneration|myopia, high, with cataract and vitreoretinal degeneration; MCVD|MCVD	http://purl.obolibrary.org/obo/MONDO_0013670		http://identifiers.org/omim/614292|UMLS:C3280346
MONDO:0001697	reading disorder	biolink:Disease	mondo	DOID:13365|ICD9:315.00|ICD9:315.09|SCTID:52824009			http://purl.obolibrary.org/obo/MONDO_0001697	A learning disability involving difficulty reading resulting primarily from neurological factors which affect any part of the reading process.	SNOMEDCT:52824009|DOID:13365
CHEBI:76857	EC 1.3.1.* (oxidoreductase acting on donor CH-CH group, NAD(+) or NADP(+) as acceptor) inhibitor	biolink:ChemicalSubstance	mondo			EC 1.3.1.* (oxidoreductase acting on donor CH-CH group, NAD(+) or NADP(+) as acceptor) inhibitors|EC 1.3.1.* (oxidoreductase acting on CH-CH group of donor, NAD(+) or NADP(+) as acceptor) inhibitors|EC 1.3.1.* inhibitors|oxidoreductase acting on CH-CH group of donor with NAD(+) or NADP(+) as acceptor (EC 1.3.1.*) inhibitor|EC 1.3.1.* (oxidoreductase acting on CH-CH group of donor with NAD(+) or NADP(+) as acceptor) inhibitor|EC 1.3.1.* (oxidoreductase acting on CH-CH group of donor with NAD(+) or NADP(+) as acceptor) inhibitors|oxidoreductase acting on CH-CH group of donor with NAD(+) or NADP(+) as acceptor (EC 1.3.1.*) inhibitors|EC 1.3.1.* inhibitor|EC 1.3.1.* (oxidoreductase acting on CH-CH group of donor, NAD(+) or NADP(+) as acceptor) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76857	An EC 1.3.* (oxidoreductase acting on donor CH-CH group) inhibitor that interferes with the action of any such enzyme using NAD(+) or NADP(+) as acceptor (EC 1.3.1.*).	
MONDO:0001696	obsolete Ehlers-Danlos syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001696		
MONDO:0001695	senile ectropion	biolink:Disease	mondo	UMLS:C0155193|DOID:13356|COHD:372325|ICD9:374.11|SCTID:71659009		involutional ectropion	http://purl.obolibrary.org/obo/MONDO_0001695		SNOMEDCT:71659009|DOID:13356|UMLS:C0155193
MONDO:0001694	diffuse interstitial keratitis	biolink:Disease	mondo	ICD10:H16.32|ICD9:370.52|DOID:13353|SCTID:17157001|COHD:436407|UMLS:C0155089			http://purl.obolibrary.org/obo/MONDO_0001694		SNOMEDCT:17157001|DOID:13353|UMLS:C0155089
MONDO:0001699	tinea manuum	biolink:Disease	mondo	COHD:80946|DOID:13369|UMLS:C0153246|SCTID:48971001|ICD10:B35.2|ICD9:110.2		dermatophytosis of hand|Tinea manus|dermatophytosis of manus|manus dermatophytosis	http://purl.obolibrary.org/obo/MONDO_0001699	A dermatophytosis that involves the hands.	UMLS:C0153246|DOID:13369|SNOMEDCT:48971001
MONDO:0001698	tinea profunda	biolink:Disease	mondo	DOID:13368|COHD:140654|UMLS:C1279621|SCTID:214600002		granuloma trichophyticum|Majocchi's granuloma|deep seated dermatophytosis	http://purl.obolibrary.org/obo/MONDO_0001698	A dermatophytosis that involves the deep dermal layers.	SNOMEDCT:214600002|UMLS:C1279621|DOID:13368
UBERON:0010291	layer of sclera	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010291	.	
MONDO:0013659	microcephaly-capillary malformation syndrome	biolink:Disease	mondo	OMIM:614261|ICD9:759.89|UMLS:C3280296|Orphanet:294016|ICD10:Q87.8|SCTID:703369003	ordo_malformation_syndrome	microcephaly-capillary malformation syndrome; MICCAP|MIC-CAP syndrome|microcephaly-capillary malformation syndrome|microcephaly-cutaneous capillary malformation syndrome|MICCAP|MIC-CM syndrome	http://purl.obolibrary.org/obo/MONDO_0013659		ORPHA:294016|UMLS:C3280296|http://identifiers.org/omim/614261|SNOMEDCT:703369003
UBERON:0010294	scleral endothelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010294	An endothelium that is part of a sclera.	
UBERON:0010295	substantia propria of sclera	biolink:AnatomicalEntity	mondo			subsantia propria|stroma of sclera|substantia propria sclerae|subsantia propria sclerae|scleral stroma	http://purl.obolibrary.org/obo/UBERON_0010295	A stroma that is part of a sclera.	
MONDO:0001693	ego-dystonic sexual orientation	biolink:Disease	mondo	DOID:13352|ICD9:302.0|COHD:434903			http://purl.obolibrary.org/obo/MONDO_0001693	A gender identity disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation.	DOID:13352
MONDO:0001692	pedophilia	biolink:Disease	mondo	DOID:13351|NCIT:C94355|MESH:D010378|ICD10:F65.4|ICD9:302.2|SCTID:84002002		Paedophilia	http://purl.obolibrary.org/obo/MONDO_0001692	A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving sexual activity with a prepubescent child or children.	NCIT:C94355|DOID:13351|SNOMEDCT:84002002|MESH:D010378
MONDO:0001691	laryngeal cartilage cancer	biolink:Disease	mondo	ICD10:C32.3|UMLS:C0153486|SCTID:363431006|ICD9:161.3|DOID:13348		malignant neoplasm of laryngeal cartilages|cancer of laryngeal cartilage|malignant tumor of laryngeal cartilage|malignant neoplasm of laryngeal cartilage|laryngeal cartilage cancer|malignant laryngeal cartilage neoplasm	http://purl.obolibrary.org/obo/MONDO_0001691	A malignant neoplasm involving the laryngeal cartilage.	UMLS:C0153486|SNOMEDCT:363431006|DOID:13348
UBERON:0010299	scleral mesenchyme	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010299	Mesenchyme surrounding the developing optic cup which develops into the sclera.	
MONDO:0001690	parasitic conjunctivitis	biolink:Disease	mondo	DOID:13341|UMLS:C0155148|ICD9:372.15|SCTID:13816006			http://purl.obolibrary.org/obo/MONDO_0001690		SNOMEDCT:13816006|DOID:13341|UMLS:C0155148
MONDO:0011001	Brugada syndrome 1	biolink:Disease	mondo	UMLS:CN029323|ICD10:I49.8|OMIM:601144|DOID:0110218		SCN5A Brugada syndrome|sudden unexplained nocturnal death syndrome|Brugada syndrome caused by mutation in SCN5A|Brugada syndrome 1; BRGDA1|right bundle branch block, St segment elevation, and sudden death syndrome|Brugada syndrome type 1|Brugada syndrome 1|BRGDA1|Cardiac conduction defect, nonspecific	http://purl.obolibrary.org/obo/MONDO_0011001	Any Brugada syndrome in which the cause of the disease is a mutation in the SCN5A gene.	DOID:0110218|http://identifiers.org/omim/601144|UMLS:CN029323
MONDO:0013664	46,XY disorder of sex development due to testicular 17,20-desmolase deficiency	biolink:Disease	mondo	UMLS:C1839840|SCTID:49013001|Orphanet:443087|DOID:0111773|MESH:C564109|ICD10:E29.1|OMIM:614279	ordo_disease	SRXY8|male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase|46,XY sex reversal 8|46,XY sex reversal 8; SRXY8|46,XY sex reversal type 8	http://purl.obolibrary.org/obo/MONDO_0013664		DOID:0111773|ORPHA:443087|http://identifiers.org/omim/614279|SNOMEDCT:49013001|MESH:C564109|UMLS:C1839840
CHEBI:62215	allelochemical	biolink:ChemicalSubstance	mondo			allelochemicals	http://purl.obolibrary.org/obo/CHEBI_62215	A class of secondary metabolites developed by many plants to influence the behaviour, growth or survival of herbivores, and thus acting as a defence against herbivory.	
MONDO:0011000	guanylate cyclase 2E	biolink:Disease	mondo	OMIM:601138		guanylate cyclase 2E; GUCY2E|GC-E|guanylate cyclase 2E, pseudogene; GUCY2EP|guanylate cyclase 2E, pseudogene|GUCY2EP|guanylyl cyclase, Membrane, type E|guanylate cyclase type 2E|Gucy2D, mouse, homolog of|guanylate cyclase 2E|GUCY2E	http://purl.obolibrary.org/obo/MONDO_0011000		http://identifiers.org/omim/601138
MONDO:0013665	EJM9	biolink:Disease	mondo	OMIM:614280|DOID:0111328	predisposition	epilepsy, juvenile myoclonic, susceptibility to, 9|epilepsy, juvenile myoclonic, susceptibility to, 9; EJM9|EJM9	http://purl.obolibrary.org/obo/MONDO_0013665		http://identifiers.org/omim/614280|DOID:0111328
MONDO:0013662	Barrett esophagus	biolink:Disease	mondo	OMIM:614266|COHD:443344|ICD10:K22.70|DOID:9206|EFO:0000280|ICD9:530.85|SCTID:196609006|NCIT:C2891|ICD10:K22.7|MESH:D001471		Barrett's oesophagus|Barrett's esophagus|Barrett's esophagus with esophagitis|Barrett's ulcer of esophagus|cello|CLE|BE|Barrett esophagus|adenocarcinoma of esophagus|columnar-lined esophagus|Barrett metaplasia|columnar epithelial-lined Lower esophagus|ulcerative esophagitis|Barretts syndrome	http://purl.obolibrary.org/obo/MONDO_0013662	Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO)	SNOMEDCT:196609006|DOID:9206|http://identifiers.org/omim/614266|NCIT:C2891|MESH:D001471
MONDO:0011003	dilated cardiomyopathy 1E	biolink:Disease	mondo	MESH:C563384|GARD:0005644|DOID:0110433|OMIM:601154|ICD10:I42.0|UMLS:C1832680	gard_rare	CMD1E|cardiomyopathy dilated with conduction defect type 2|CDCD2|dilated cardiomyopathy with conduction defect 2|cardiomyopathy, dilated, with conduction defect 2|SCN5A familial isolated dilated cardiomyopathy|dilated cardiomyopathy type 1E|dilated cardiomyopathy with conduction disorder and arrhythmia|familial isolated dilated cardiomyopathy caused by mutation in SCN5A|cardiomyopathy, dilated, with conduction disorder and arrhythmia|cardiomyopathy, dilated, 1E; CMD1E|cardiomyopathy, dilated, 1E|cardiomyopathy, dilated, type 1E	http://purl.obolibrary.org/obo/MONDO_0011003	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SCN5A gene.	DOID:0110433|MESH:C563384|http://identifiers.org/omim/601154|UMLS:C1832680
MONDO:0011002	neuropathy, hereditary motor and sensory, type 6A	biolink:Disease	mondo	OMIM:601152		neuropathy, hereditary motor and sensory, type 6|HMSN6A|MFN2 hereditary motor and sensory neuropathy type 6|peripheral neuropathy and optic atrophy|hereditary motor and sensory neuropathy type 6 caused by mutation in MFN2|Charcot-Marie-Tooth disease, type 6A|neuropathy, hereditary motor and sensory, type VIA|HMSN 6A|Charcot-Marie-Tooth disease, type 6|neuropathy, hereditary motor and sensory, type VIA; HMSN6A	http://purl.obolibrary.org/obo/MONDO_0011002	Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the MFN2 gene.	http://identifiers.org/omim/601152
MONDO:0013663	platelet-activating factor acetylhydrolase deficiency (disease)	biolink:Disease	mondo	MESH:C566640|OMIM:614278|HP:0040175|UMLS:C3280315		PAFAD|platelet-activating factor acetylhydrolase deficiency|platelet-activating factor acetylhydrolase deficiency|platelet-activating factor acetylhydrolase deficiency; PAFAD	http://purl.obolibrary.org/obo/MONDO_0013663		UMLS:C3280315|http://identifiers.org/omim/614278|MESH:C566640
MONDO:0013668	tetrasomy 18p	biolink:Disease	mondo	Orphanet:3307|MESH:C538306|GARD:0000035|ICD9:758.89|ICD10:Q99.8|SCTID:698849002|OMIM:614290|UMLS:C0795868	ordo_malformation_syndrome|gard_rare	Isochromosome 18p|tetrasomy 18p|tetrasomy type 18P|tetrasomy type 18p|chromosome 18p tetrasomy|tetrasomy chromosome 18p|Isochromosome 18P syndrome	http://purl.obolibrary.org/obo/MONDO_0013668	Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations.	SNOMEDCT:698849002|http://identifiers.org/omim/614290|ORPHA:3307|MESH:C538306|UMLS:C0795868
MONDO:0011005	trisomy 18-like syndrome	biolink:Disease	mondo	MESH:C563382|OMIM:601161|UMLS:C1832677		trisomy 18-like syndrome	http://purl.obolibrary.org/obo/MONDO_0011005		MESH:C563382|http://identifiers.org/omim/601161|UMLS:C1832677
MONDO:0011004	lissencephaly type 3-metacarpal bone dysplasia syndrome	biolink:Disease	mondo	SCTID:718720007|MESH:C563383|ICD10:Q04.3|OMIM:601160|Orphanet:86822|UMLS:C1832678	ordo_malformation_syndrome	lissencephaly type III and bone dysplasia|lissencephaly type 3 and bone dysplasia	http://purl.obolibrary.org/obo/MONDO_0011004	This syndrome is characterised by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and foetal akinesia sequence.	MESH:C563383|http://identifiers.org/omim/601160|SNOMEDCT:718720007|UMLS:C1832678|ORPHA:86822
MONDO:0013669	breast-ovarian cancer, familial, susceptibility to, 4	biolink:Disease	mondo	OMIM:614291	predisposition	breast-ovarian cancer, familial, susceptibility to, 4|BROVCA4|susceptibility to familial breast-ovarian cancer 4|hereditary breast ovarian cancer syndrome caused by mutation in RAD51D|breast-ovarian cancer, familial, susceptibility to, type 4|breast-ovarian cancer, familial, susceptibility to, 4; BROVCA4|RAD51D hereditary breast ovarian cancer syndrome	http://purl.obolibrary.org/obo/MONDO_0013669	Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51D gene.	http://identifiers.org/omim/614291
MONDO:0013666	Stickler syndrome, type 5	biolink:Disease	mondo	UMLS:C3280342|OMIM:614284		COL9A2 autosomal recessive Stickler syndrome|STICKLER syndrome, type V; STL5|autosomal recessive Stickler syndrome caused by mutation in COL9A2|STL5|STICKLER syndrome, type V	http://purl.obolibrary.org/obo/MONDO_0013666	Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A2 gene.	UMLS:C3280342|http://identifiers.org/omim/614284
MONDO:0011007	diaphragmatic defect-limb deficiency-skull defect syndrome	biolink:Disease	mondo	SCTID:721095007|Orphanet:2141|OMIM:601163|GARD:0002397|MESH:C563380|ICD10:Q87.8	ordo_malformation_syndrome|gard_rare	froster syndrome|diaphragmatic defect limb deficiency skull defect|diaphragmatic defects, limb deficiencies, and ossification defects of skull|froster-Huch syndrome	http://purl.obolibrary.org/obo/MONDO_0011007	This syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations. It has been reported only once in four successive foetuses (two females and two males) born to a nonconsanguineous couple. The spectrum of malformations is wide and includes, besides diaphragmatic hernia and hypoplastic lungs (present in the four foetuses), omphalocele (one case), severe limb hypoplasia (two cases), syndactyly of the toes (two cases), extra spleen (one case), and an ossification defect of the skull (one case). Inheritance seems either to be autosomal recessive or due to a gonadal mosaicism in one parent. Prenatal diagnosis of diaphragmatic hernia and severe lung hypoplasia detected on ultrasonography made the parents opt for termination of the four pregnancies.	MESH:C563380|SNOMEDCT:721095007|http://identifiers.org/omim/601163|ORPHA:2141
MONDO:0011006	hereditary spastic paraplegia 9A	biolink:Disease	mondo	DOID:0110824|UMLS:CN237701|MESH:C536868|OMIM:601162|ICD10:G11.4|Orphanet:447753	ordo_clinical_subtype	hereditary spastic paraplegia type 9A|cataracts with motor neuronopathy, short stature, and skeletal abnormalities|autosomal dominant spastic paraplegia 9A|autosomal dominant complex spastic paraplegia type 9A|cataracts with motor neuronopathy, short stature and skeletal abnormalities|spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux|AD-SPG9A|spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome|cataracts motor neuropathy-short stature-skeletal anomalies syndrome|spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux|spastic paraplegia 9A, autosomal dominant; SPG9A|SPG9A|spastic paraplegia 9A, autosomal dominant|spastic paraparesis with amyopathy, cataracts, and gastroesophageal reflux	http://purl.obolibrary.org/obo/MONDO_0011006		MESH:C536868|UMLS:CN237701|ORPHA:447753|DOID:0110824|http://identifiers.org/omim/601162
MONDO:0013667	obsolete myelodysplastic syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0013667		
MONDO:0013660	arthrogryposis, Perthes disease, and upward gaze palsy	biolink:Disease	mondo	OMIM:614262|UMLS:C3280309		arthrogryposis, Perthes disease, and upward gaze palsy; APUG|APUG|arthrogryposis, Perthes disease, and upward gaze palsy	http://purl.obolibrary.org/obo/MONDO_0013660		UMLS:C3280309|http://identifiers.org/omim/614262
MONDO:0013661	combined malonic and methylmalonic acidemia	biolink:Disease	mondo	GARD:0010818|SCTID:702365002|UMLS:C3280314|MESH:C580002|DOID:0111263|Orphanet:289504|ICD10:E71.1|OMIM:614265	ordo_disease	combined malonic and methylmalonic aciduria|CMAMMA|combined malonic and methylmalonic aciduria; CMAMMA	http://purl.obolibrary.org/obo/MONDO_0013661	Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline.	UMLS:C3280314|ORPHA:289504|http://identifiers.org/omim/614265|DOID:0111263|MESH:C580002|SNOMEDCT:702365002
MONDO:0001664	submucous uterine fibroid	biolink:Disease	mondo	SCTID:95279007|ICD10:D25.0|ICD9:218.0|COHD:195769|DOID:13222|UMLS:C0153993		submucous leiomyoma of uterus	http://purl.obolibrary.org/obo/MONDO_0001664		DOID:13222|UMLS:C0153993|SNOMEDCT:95279007
MONDO:0001663	hole retinal cyst	biolink:Disease	mondo	ICD9:362.54|ICD10:H35.34|DOID:13214|UMLS:C1261331|SCTID:1079004		macular cyst, hole, or pseudohole of retina|macular pseudohole retinal cyst|macular cyst or hole	http://purl.obolibrary.org/obo/MONDO_0001663		SNOMEDCT:1079004|DOID:13214|UMLS:C1261331
MONDO:0001662	right bundle branch block (disease)	biolink:Disease	mondo	ICD9:426.51|COHD:314059|SCTID:59118001|ICD9:426.4|HP:0011712|DOID:13209		right bundle branch block with left posterior fascicular block|right bundle branch block	http://purl.obolibrary.org/obo/MONDO_0001662		DOID:13209|SNOMEDCT:59118001
UBERON:0009291	cartilaginous vertebral centrum	biolink:AnatomicalEntity	mondo			cartilaginous centrum of vertebra|postcaudal cartilaginous centrum	http://purl.obolibrary.org/obo/UBERON_0009291	Cartilaginous form of a vertebral centrum, a skeletal element that functionally replaces the notochord[VSAP,modified].	
MONDO:0001661	background diabetic retinopathy	biolink:Disease	mondo	DOID:13208|ICD9:362.01|NCIT:C35668|SCTID:390834004|UMLS:C0004606|ICD9:362.03		non-proliferative diabetic retinopathy|non proliferative diabetic retinopathy	http://purl.obolibrary.org/obo/MONDO_0001661	An early stage of diabetic retinopathy that is characterized by retinal hemorrhage and exudate, but without proliferation of the blood vessels.	DOID:13208|SNOMEDCT:390834004|UMLS:C0004606|NCIT:C35668|NCIT:C34408
MONDO:0001668	internal pathological resorption of tooth	biolink:Disease	mondo	SCTID:52994003|DOID:13239|ICD9:521.41		pathological tooth resorption - internal|internal resorption of crown of tooth|internal granuloma of pulp|internal resorption of tooth|internal pathologic resorption|internal pathological resorption|pink spot lesion of tooth|pink tooth of mummery	http://purl.obolibrary.org/obo/MONDO_0001668		DOID:13239|SNOMEDCT:52994003
UBERON:0009292	embryonic nasal process	biolink:AnatomicalEntity	mondo			nasal placode	http://purl.obolibrary.org/obo/UBERON_0009292		
MONDO:0001667	streptobacillus infectious disease	biolink:Disease	mondo	SCTID:721738002|UMLS:C0947939		infection caused by streptobacillus|streptobacillus infection	http://purl.obolibrary.org/obo/MONDO_0001667		SNOMEDCT:721738002|UMLS:C0947939
MONDO:0001666	retinal dystrophies primarily involving Bruch's membrane	biolink:Disease	mondo	DOID:13227|ICD9:362.77		inherited retinal dystrophy of Bruch's membrane|Bruch's membrane inherited retinal dystrophy|retinal dystrophies primarily involving Bruch membrane	http://purl.obolibrary.org/obo/MONDO_0001666	A retinal dystrophy with etiology arising from Bruch's membrane, the site of drusen generation.	DOID:13227
MONDO:0001665	oculoglandular tularemia	biolink:Disease	mondo	ICD9:021.3|UMLS:C0152944|ICD10:A21.1|DOID:13226|SCTID:73363000			http://purl.obolibrary.org/obo/MONDO_0001665	A tularemia that results in inflammation of eye and swelling of lymph glands in front of the ear.	DOID:13226|UMLS:C0152944|SNOMEDCT:73363000
UBERON:0010285	midbrain basal plate	biolink:AnatomicalEntity	mondo			basal plate midbrain|basal plate midbrain region	http://purl.obolibrary.org/obo/UBERON_0010285	Portion of tissue that is dorsolateral to the floor plate and part of the midbrain.	
UBERON:0010286	midbrain neural tube	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010286	Portion of neural tube that gives rise to the midbrain.	
HP:0010465	Precocious puberty in females	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:19911007|UMLS:C0271616			http://purl.obolibrary.org/obo/HP_0010465	The onset of puberty before the age of 8 years in girls.	
MONDO:0013648	familial progressive hyperpigmentation	biolink:Disease	mondo	UMLS:CN205811|OMIM:614233|SCTID:715630006|UMLS:C1840392|Orphanet:79146|ICD10:L81.4	ordo_disease	hyperpigmentation, familial progressive, 1|melanosis universalis hereditaria|hyperpigmentation, familial progressive, 1; FPH1|universal melanosis|Fph|melanosis diffusa congenita|FPH1	http://purl.obolibrary.org/obo/MONDO_0013648	Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated.	ORPHA:79146|UMLS:C1840392|UMLS:CN205811|http://identifiers.org/omim/614233|SNOMEDCT:715630006
MONDO:0013649	hypotrichosis 9	biolink:Disease	mondo	DOID:0110706|UMLS:C3280252|OMIM:614237		hypotrichosis 9; HYPT9|hypotrichosis type 9|hypotrichosis 9|hypt9|HYPT9	http://purl.obolibrary.org/obo/MONDO_0013649	A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 10q11.23-q22.3.	DOID:0110706|UMLS:C3280252|http://identifiers.org/omim/614237
UBERON:0010284	lacrimal punctum	biolink:AnatomicalEntity	mondo			lacrimal puncta|puncta lacrimalia|lacrimal point	http://purl.obolibrary.org/obo/UBERON_0010284	A minute orifice on the summit of the papillae lacrimales, which is the commencement point of the lacrimal canaliculi.	
MONDO:0001660	proliferative diabetic retinopathy	biolink:Disease	mondo	NCIT:C84457|COHD:380096|DOID:13207|SCTID:59276001|UMLS:C0154830|ICD9:362.02		PDR	http://purl.obolibrary.org/obo/MONDO_0001660	Advanced retinopathy due to diabetes mellitus characterized by the formation of new vessels in the retina. The new vessels are abnormal and fragile. If hemorrhage occurs due to the vascular fragility, there is increased risk of vision loss or blindness.	SNOMEDCT:59276001|NCIT:C84457|UMLS:C0154830|DOID:13207
HP:0010461	Abnormality of the male genitalia	biolink:PhenotypicFeature	mondo	UMLS:C4023819		Abnormality of the male genitalia|Abnormal male genitals	http://purl.obolibrary.org/obo/HP_0010461	Abnormality of the male genital system.	
HP:0010460	Abnormality of the female genitalia	biolink:PhenotypicFeature	mondo	UMLS:C4023820			http://purl.obolibrary.org/obo/HP_0010460	Abnormality of the female genital system.	
MONDO:0013653	Parkinson disease 18, autosomal dominant, susceptibility to	biolink:Disease	mondo	OMIM:614251|UMLS:C3280271	predisposition	Parkinson disease 18, autosomal dominant, susceptibility to|EIF4G1 hereditary late onset Parkinson disease|susceptibility to autosomal dominant Parkinson disease 18|hereditary late onset Parkinson disease caused by mutation in EIF4G1|Parkinson disease 18, autosomal dominant, susceptibility to; PARK18|PARK18	http://purl.obolibrary.org/obo/MONDO_0013653	Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the EIF4G1 gene.	UMLS:C3280271|http://identifiers.org/omim/614251
MONDO:0013654	ANIB11	biolink:Disease	mondo	OMIM:614252|UMLS:C3280275		aneurysm, intracranial BERRY, 11|ANIB11|aneurysm, intracranial BERRY, 11; ANIB11	http://purl.obolibrary.org/obo/MONDO_0013654		UMLS:C3280275|http://identifiers.org/omim/614252
MONDO:0013651	intellectual disability, autosomal recessive 18	biolink:Disease	mondo	GARD:0012233|UMLS:C3280265|OMIM:614249		MRT18|intellectual disability, autosomal recessive type 18|mental retardation, autosomal recessive 18; MRT18|intellectual disability, autosomal recessive 18|autosomal recessive nonsyndromic mental retardation-18|MED23|MED23 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive type 18|autosomal recessive nonsyndromic intellectual disability-18|mental retardation, autosomal recessive 18|intellectual disability, autosomal recessive 18; MRT18|autosomal recessive non-syndromic intellectual disability caused by mutation in MED23	http://purl.obolibrary.org/obo/MONDO_0013651	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MED23 gene.	UMLS:C3280265|http://identifiers.org/omim/614249
MONDO:0013652	narcolepsy 7	biolink:Disease	mondo	UMLS:C3280266|OMIM:614250		MOG narcolepsy|narcolepsy 7|narcolepsy type 7|narcolepsy 7; NRCLP7|NRCLP7|narcolepsy caused by mutation in MOG	http://purl.obolibrary.org/obo/MONDO_0013652	Any narcolepsy in which the cause of the disease is a mutation in the MOG gene.	UMLS:C3280266|http://identifiers.org/omim/614250
MONDO:0013657	intellectual disability, autosomal dominant 10	biolink:Disease	mondo	OMIM:614256|DOID:0070040|UMLS:C3280284		autosomal dominant non-syndromic intellectual disability 10|autosomal dominant non-syndromic intellectual disability caused by mutation in CACNG2|intellectual disability, autosomal dominant type 10|MRD10|mental retardation, autosomal dominant type 10|intellectual disability, autosomal dominant 10; MRD10|mental retardation, autosomal dominant 10; MRD10|CACNG2 autosomal dominant non-syndromic intellectual disability|autosomal dominant intellectual disability 10|mental retardation, autosomal dominant 10|autosomal dominant mental retardation 10|intellectual disability, autosomal dominant 10	http://purl.obolibrary.org/obo/MONDO_0013657	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CACNG2 gene.	UMLS:C3280284|DOID:0070040|http://identifiers.org/omim/614256
MONDO:0013658	intellectual disability, autosomal dominant 11	biolink:Disease	mondo	OMIM:614257|DOID:0070041|UMLS:C3280285		EPB41L1 autosomal dominant non-syndromic intellectual disability|autosomal dominant non-syndromic intellectual disability 11|MRD11|autosomal dominant non-syndromic intellectual disability caused by mutation in EPB41L1|mental retardation, autosomal dominant type 11|intellectual disability, autosomal dominant type 11|mental retardation, autosomal dominant 11; MRD11|intellectual disability, autosomal dominant 11; MRD11|mental retardation, autosomal dominant 11|autosomal dominant mental retardation 11|autosomal dominant intellectual disability 11|intellectual disability, autosomal dominant 11	http://purl.obolibrary.org/obo/MONDO_0013658	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EPB41L1 gene.	UMLS:C3280285|DOID:0070041|http://identifiers.org/omim/614257
MONDO:0013655	intellectual disability, autosomal dominant 8	biolink:Disease	mondo	UMLS:C3280282|DOID:0070038|OMIM:614254		mental retardation, autosomal dominant type 8|MRD8|autosomal dominant non-syndromic intellectual disability 8|intellectual disability, autosomal dominant 8, formerly|GRIN1 autosomal dominant non-syndromic intellectual disability|autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN1|intellectual disability, autosomal dominant 8; MRD8|autosomal dominant mental retardation 8|neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant; NDHMSD|mental retardation, autosomal dominant 8, formerly|neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant|intellectual disability, autosomal dominant type 8|intellectual disability, autosomal dominant 8|NDHMSD|mental retardation, autosomal dominant 8; MRD8|autosomal dominant intellectual disability 8|mental retardation, autosomal dominant 8	http://purl.obolibrary.org/obo/MONDO_0013655	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN1 gene.	UMLS:C3280282|DOID:0070038|http://identifiers.org/omim/614254
MONDO:0013656	intellectual disability, autosomal dominant 9	biolink:Disease	mondo	NCIT:C133742|OMIM:614255|DOID:0070039|UMLS:C3280283		autosomal dominant non-syndromic intellectual disability caused by mutation in KIF1A|autosomal dominant non-syndromic intellectual disability 9|autosomal dominant mental retardation 9|intellectual disability, autosomal dominant 9; MRD9|mental retardation, autosomal dominant 9; MRD9|intellectual disability, autosomal dominant type 9|mental retardation, autosomal dominant type 9|mental retardation, autosomal dominant 9|intellectual disability, autosomal dominant 9|MRD9|autosomal dominant intellectual disability 9|KIF1A autosomal dominant non-syndromic intellectual disability	http://purl.obolibrary.org/obo/MONDO_0013656	An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity.	NCIT:C133742|UMLS:C3280283|DOID:0070039|http://identifiers.org/omim/614255
HP:0010468	Aplasia/Hypoplasia of the testes	biolink:PhenotypicFeature	mondo	UMLS:C4023817		Absent/underdeveloped testes|Absent/small testes	http://purl.obolibrary.org/obo/HP_0010468	Absence or underdevelopment of the testes.	
MONDO:0001659		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001659		
MONDO:0001658	nontoxic goiter	biolink:Disease	mondo	NCIT:C35271|DOID:13195|ICD10:E04.9|UMLS:C0221777|ICD10:E04.0		goitre, non-toxic NOS|goiter, non-toxic|non-toxic goiter|non-toxic goitre|goitre, non-toxic|nontoxic goiter|non-toxic simple goitre|Nodule-thyroid, non tox|euthyroid goiter	http://purl.obolibrary.org/obo/MONDO_0001658	Sporadic enlargement of the thyroid gland that is not associated with changes in thyroid function or malignancy.	NCIT:C35271|DOID:13195|UMLS:C0221777
CHEBI:76863	EC 1.5.1.* (oxidoreductase acting on donor CH-NH group, NAD(+) or NADP(+) as acceptor) inhibitor	biolink:ChemicalSubstance	mondo			oxidoreductase acting on donor CH-NH group, NAD(+) or NADP(+) as acceptor (EC 1.5.1.*) inhibitor|EC 1.5.1.* inhibitors|EC 1.5.1.* (oxidoreductase acting on donor CH-NH group, NAD(+) or NADP(+) as acceptor) inhibitors|EC 1.5.1.* inhibitor|oxidoreductase acting on donor CH-NH group, NAD(+) or NADP(+) as acceptor (EC 1.5.1.*) inhibitors	http://purl.obolibrary.org/obo/CHEBI_76863	An EC 1.5.* (oxidoreductase acting on donor CH-NH group) inhibitor that interferes with the action of any such enzyme using NAD(+) or NADP(+) as acceptor (EC 1.5.1.*).	
MONDO:0013650	hypotrichosis 10	biolink:Disease	mondo	OMIM:614238|DOID:0110707|UMLS:C3280253		hypotrichosis type 10|hypt10|HYPT10|hypotrichosis 10|hypotrichosis 10; HYPT10	http://purl.obolibrary.org/obo/MONDO_0013650	A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 7p22.3-p21.3.	DOID:0110707|UMLS:C3280253|http://identifiers.org/omim/614238
MONDO:0001675	obsolete porphyria	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001675		
MONDO:0001674	diverticulitis of colon	biolink:Disease	mondo	SCTID:111359004|UMLS:C0012814|COHD:77025|ICD9:562.11|DOID:13254|ICD9:562.12|MESH:D004239		colonic diverticular disease|colon diverticulitis	http://purl.obolibrary.org/obo/MONDO_0001674	Inflammation of the colonic diverticula, generally with abscess formation and subsequent perforation.	UMLS:C0012814|MESH:D004239|DOID:13254|SNOMEDCT:111359004
MONDO:0001673	diarrheal disease	biolink:Disease	mondo	ICD9:009.2|SCTID:128333008|NCIT:C2987|HP:0002014|COHD:196523|DOID:13250|MESH:D003967		loose stools|frequent stools|diarrheal disorder|diarrhea of presumed infectious origin|diarrhoea|diarrhea|diarrheal disease	http://purl.obolibrary.org/obo/MONDO_0001673	The condition of having at least three loose or liquid bowel movements each day.	MESH:D003967|NCIT:C2987|SNOMEDCT:128333008|DOID:13250
NCBITaxon:2698737	Sar	organism taxon	mondo	GC_ID:1		SAR supergroup	http://purl.obolibrary.org/obo/NCBITaxon_2698737		
MONDO:0001672	bronchus cancer	biolink:Disease	mondo	ICD10:C34|SCTID:363493006|ICD10:C34.9|ICD9:162.8|ICD9:162.9|DOID:1325		malignant neoplasm of bronchus and lung, unspecified|malignant bronchus neoplasm|malignant neoplasm of bronchus|malignant neoplasm of bronchus or lung|malignant neoplasm of bronchus and lung|cancer of bronchus|bronchus cancer	http://purl.obolibrary.org/obo/MONDO_0001672	A malignant neoplasm involving the bronchus	DOID:1325|SNOMEDCT:363493006
MONDO:0001679	obsolete crater-like holes of optic disc	biolink:Disease	mondo	ICD9:377.22|DOID:13295		crater-like optic disc holes	http://purl.obolibrary.org/obo/MONDO_0001679		DOID:13295
MONDO:0001678	intestinal tuberculosis	biolink:Disease	mondo	ICD9:014.8|UMLS:C0275911|ICD9:014.80|SCTID:60136008|DOID:13282		intestine tuberculosis|tuberculosis of intestine	http://purl.obolibrary.org/obo/MONDO_0001678	A tuberculosis that involves the intestine.	DOID:13282|SNOMEDCT:60136008|UMLS:C0275911
MONDO:0001677	obsolete Rift valley fever	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001677		
MONDO:0001676	erythropoietic protoporphyria	biolink:Disease	mondo	OMIMPS:177000|ICD10:E80.0|SCTID:51022005|MESH:D046351|DOID:13270		EPP|protoporphyria|EPP (erythropoietic protoporphyria porphyria)	http://purl.obolibrary.org/obo/MONDO_0001676	A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly.	DOID:13270|MESH:D046351|SNOMEDCT:51022005
MONDO:0013639	narcolepsy 6, susceptibility to	biolink:Disease	mondo	OMIM:614223	predisposition	narcolepsy 6, susceptibility to|NRCLP6|narcolepsy 6, susceptibility to; NRCLP6	http://purl.obolibrary.org/obo/MONDO_0013639		http://identifiers.org/omim/614223
UBERON:0010272	hyoid apparatus	biolink:AnatomicalEntity	mondo			apparatus hyobranchialis|hyobranchial apparatus|apparatus hyoideus|hyolingual system	http://purl.obolibrary.org/obo/UBERON_0010272	A group of bones comprised of hyoid body and two pairs of cornua (i.e. greater cornua and lesser cornua), and lies just below the tongue, above the thyroid cartilage	
MONDO:0013637	primary biliary cholangitis 5	biolink:Disease	mondo	UMLS:C3280202|OMIM:614221		biliary cirrhosis, primary, 5|biliary cirrhosis, primary, 5; PBC5|PBC5	http://purl.obolibrary.org/obo/MONDO_0013637		UMLS:C3280202|http://identifiers.org/omim/614221
MONDO:0013638	Warburg micro syndrome 3	biolink:Disease	mondo	OMIM:614222|DOID:0110718|UMLS:C3280203|ICD10:Q87.0		micro syndrome 3|WARBURG micro syndrome 3; WARBM3|RAB18 Warburg micro syndrome|Warburg micro syndrome caused by mutation in RAB18|Warburg micro syndrome 3|Warburg micro syndrome type 3|WARBM3	http://purl.obolibrary.org/obo/MONDO_0013638	Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB18 gene.	DOID:0110718|UMLS:C3280203|http://identifiers.org/omim/614222
UBERON:0010273	zone of hyoid bone	biolink:AnatomicalEntity	mondo			hyoid bone zone	http://purl.obolibrary.org/obo/UBERON_0010273	A zone of bone organ that is part of a hyoid bone.	
MONDO:0001671	mucocele of appendix	biolink:Disease	mondo	DOID:13248|NCIT:C3241|SCTID:53773002|UMLS:C0026684|ICD9:543.9		Appendicele mucocele|appendiceal mucocele|mucocele of the appendix	http://purl.obolibrary.org/obo/MONDO_0001671	Accumulation of mucus within the appendix.	NCIT:C3241|UMLS:C0026684|SNOMEDCT:53773002|DOID:13248
MONDO:0001670	tooth resorption	biolink:Disease	mondo	ICD10:K03.3|ICD9:521.4|DOID:13240|SCTID:70931000|MESH:D014091|UMLS:C0040451			http://purl.obolibrary.org/obo/MONDO_0001670	Resorption of calcified dental tissue, involving demineralization due to reversal of the cation exchange and lacunar resorption by osteoclasts. There are two types: external (as a result of tooth pathology) and internal (apparently initiated by a peculiar inflammatory hyperplasia of the pulp). (From Jablonski, Dictionary of Dentistry, 1992, p676)	MESH:D014091|DOID:13240|SNOMEDCT:70931000|UMLS:C0040451
UBERON:0010276	space in vertebral column	biolink:AnatomicalEntity	mondo			vertebral conduit|vertebral column opening	http://purl.obolibrary.org/obo/UBERON_0010276	Any anatomical space that is part of a vertebral column.	
MONDO:0013642	holoprosencephaly 11	biolink:Disease	mondo	DOID:0110877|UMLS:C3280215|OMIM:614226		holoprosencephaly caused by mutation in CDON|holoprosencephaly 11|holoprosencephaly type 11|holoprosencephaly 11; HPE11|CDON holoprosencephaly|HPE11	http://purl.obolibrary.org/obo/MONDO_0013642	Any holoprosencephaly in which the cause of the disease is a mutation in the CDON gene.	DOID:0110877|UMLS:C3280215|http://identifiers.org/omim/614226
MONDO:0013643	hyperuricemic nephropathy, familial juvenile type 3	biolink:Disease	mondo	OMIM:614227|UMLS:C3280216		hyperuricemic nephropathy, familial juvenile, 3; HNFJ3|HNFJ3|hyperuricemic nephropathy, familial juvenile, 3	http://purl.obolibrary.org/obo/MONDO_0013643		UMLS:C3280216|http://identifiers.org/omim/614227
MONDO:0013640	familial retinal arterial macroaneurysm	biolink:Disease	mondo	GARD:0012779|UMLS:C3280205|SCTID:764452004|OMIM:614224|Orphanet:284247	ordo_malformation_syndrome	retinal arterial macroaneurysm and supravalvular pulmonic stenosis|retinal arterial macroaneurysm with supravalvular pulmonic stenosis; RAMSVPS|RAMSVPS|retinal arterial macroaneurysm with supravalvular pulmonic stenosis|Fram	http://purl.obolibrary.org/obo/MONDO_0013640		UMLS:C3280205|SNOMEDCT:764452004|http://identifiers.org/omim/614224|ORPHA:284247
MONDO:0013641	Warburg micro syndrome 2	biolink:Disease	mondo	ICD10:Q87.0|UMLS:C3280214|OMIM:614225|DOID:0110717		micro syndrome 2|RAB3GAP2 Warburg micro syndrome|WARBURG micro syndrome 2; WARBM2|WARBM2|Warburg micro syndrome 2|Warburg micro syndrome caused by mutation in RAB3GAP2|Warburg micro syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0013641	Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP2 gene.	DOID:0110717|UMLS:C3280214|http://identifiers.org/omim/614225
MONDO:0013646	chromosome 8q21.11 deletion syndrome	biolink:Disease	mondo	ICD10:Q93.5|UMLS:C4305343|Orphanet:284160|UMLS:C3280231|SCTID:718615003|OMIM:614230|DOID:0060425	ordo_malformation_syndrome	8q21.11 microdeletion syndrome|deletion 8q21.11|chromosome 8q21.11 deletion syndrome|monosomy 8q21.11|Del(8)(q21.11)	http://purl.obolibrary.org/obo/MONDO_0013646	8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.	DOID:0060425|UMLS:C3280231|http://identifiers.org/omim/614230|SNOMEDCT:718615003|UMLS:C4305343|ORPHA:284160
MONDO:0013647	primary microcephaly-epilepsy-permanent neonatal diabetes syndrome	biolink:Disease	mondo	OMIM:614231|Orphanet:306558|UMLS:C3280240	ordo_disease	microcephaly, epilepsy, and diabetes syndrome; MEDS|MEDS|microcephaly, epilepsy, and diabetes syndrome	http://purl.obolibrary.org/obo/MONDO_0013647		UMLS:C3280240|http://identifiers.org/omim/614231|ORPHA:306558
MONDO:0013644	Charcot-Marie-Tooth disease axonal type 2O	biolink:Disease	mondo	UMLS:C3280220|OMIM:614228|ICD10:G60.0|GARD:0012434|DOID:0110175|Orphanet:284232	ordo_disease	Charcot-Marie-Tooth neuropathy, axonal, type 2O|Charcot-Marie-Tooth disease type 2O|Charcot-Marie-Tooth disease caused by mutation in DYNC1H1|autosomal dominant axonal Charcot-Marie-Tooth disease type 2O|Charcot-Marie-Tooth neuropathy axonal type 2O|CMT2O|Charcot-Marie-Tooth disease, axonal, type 2O; CMT2O|Charcot-Marie-Tooth disease, axonal, type 2O|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2O|autosomal dominant Charcot-Marie-Tooth disease type 2O|DYNC1H1 Charcot-Marie-Tooth disease	http://purl.obolibrary.org/obo/MONDO_0013644	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the DYNC1H1 gene.	DOID:0110175|UMLS:C3280220|http://identifiers.org/omim/614228|ORPHA:284232
MONDO:0013645	autosomal recessive spinocerebellar ataxia 11	biolink:Disease	mondo	ICD10:G11.1|DOID:0080063|OMIM:614229|UMLS:C3280226|Orphanet:284271	ordo_disease	autosomal recessive syndromic cerebellar ataxia caused by mutation in SYT14|spinocerebellar ataxia, autosomal recessive 11|autosomal recessive cerebellar ataxia-psychomotor retardation syndrome|spinocerebellar ataxia, autosomal recessive 11; SCAR11|SCAR11|spinocerebellar ataxia, autosomal recessive type 11|SYT14 autosomal recessive syndromic cerebellar ataxia|autosomal recessive spinocerebellar ataxia type 11	http://purl.obolibrary.org/obo/MONDO_0013645	Any autosomal recessive syndromic cerebellar ataxia in which the cause of the disease is a mutation in the SYT14 gene.	ORPHA:284271|UMLS:C3280226|http://identifiers.org/omim/614229|DOID:0080063
CHEBI:76870	EC 1.9.3.* (oxidoreductase acting on donor heme group, oxygen as acceptor) inhibitor	biolink:ChemicalSubstance	mondo			EC 1.9.3.* inhibitors|oxidoreductase acting on donor heme group, oxygen as acceptor (EC 1.9.3.*) inhibitors|oxidoreductase acting on donor heme group, oxygen as acceptor (EC 1.9.3.*) inhibitor|EC 1.9.3.* (oxidoreductase acting on donor heme group, oxygen as acceptor) inhibitors|EC 1.9.3.* inhibitor	http://purl.obolibrary.org/obo/CHEBI_76870	An EC 1.9.* (oxidoreductase acting on donor heme group) inhibitor that interferes with the action of any such enzyme using oxygen as acceptor (EC 1.9.3.*).	
ECTO:9000077	chlorine molecular entity exposure	biolink:OntologyClass	mondo			exposure to chlorine molecular entity	http://purl.obolibrary.org/obo/ECTO_9000077	An exposure to chlorine molecular entity.	
MONDO:0001669	obsolete lung cancer	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001669		
HP:0009473	Joint contracture of the hand	biolink:PhenotypicFeature	mondo	UMLS:C0158113|SNOMEDCT_US:86414002|MEDDRA:10010821	hposlim_core	Contractures of the hands|Contractures involving the hands	http://purl.obolibrary.org/obo/HP_0009473	Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.	
GO:1902018	negative regulation of cilium assembly	biolink:OntologyClass	mondo			negative regulation of cilium biogenesis|down-regulation of cilium biogenesis|downregulation of ciliogenesis|down regulation of cilium biogenesis|down regulation of ciliogenesis|down-regulation of cilium assembly|downregulation of cilium biogenesis|negative regulation of ciliogenesis|down-regulation of ciliogenesis|down regulation of cilium assembly|inhibition of cilium assembly|downregulation of cilium assembly|inhibition of ciliogenesis|inhibition of cilium biogenesis	http://purl.obolibrary.org/obo/GO_1902018	Any process that stops, prevents or reduces the frequency, rate or extent of cilium assembly.	
GO:1902019	regulation of cilium-dependent cell motility	biolink:OntologyClass	mondo			regulation of cilium cell motility|regulation of ciliary cell motility	http://purl.obolibrary.org/obo/GO_1902019	Any process that modulates the frequency, rate or extent of cilium-dependent cell motility.	
HGNC:7717	NDUFV2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7717		
GO:1902017	regulation of cilium assembly	biolink:OntologyClass	mondo			regulation of ciliogenesis|regulation of cilium biogenesis	http://purl.obolibrary.org/obo/GO_1902017	Any process that modulates the frequency, rate or extent of cilium assembly.	
HGNC:592	XIAP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/592		
GO:1904677	positive regulation of somatic stem cell division	biolink:OntologyClass	mondo			upregulation of somatic stem cell renewal|up regulation of somatic stem cell division|up-regulation of somatic stem cell division|up-regulation of somatic stem cell renewal|activation of somatic stem cell division|up regulation of somatic stem cell renewal|positive regulation of somatic stem cell renewal|activation of somatic stem cell renewal|upregulation of somatic stem cell division	http://purl.obolibrary.org/obo/GO_1904677	Any process that activates or increases the frequency, rate or extent of somatic stem cell division.	
GO:1904676	negative regulation of somatic stem cell division	biolink:OntologyClass	mondo			negative regulation of somatic stem cell renewal|down-regulation of somatic stem cell renewal|down regulation of somatic stem cell renewal|downregulation of somatic stem cell division|downregulation of somatic stem cell renewal|inhibition of somatic stem cell renewal|down regulation of somatic stem cell division|inhibition of somatic stem cell division|down-regulation of somatic stem cell division	http://purl.obolibrary.org/obo/GO_1904676	Any process that stops, prevents or reduces the frequency, rate or extent of somatic stem cell division.	
GO:1904675	regulation of somatic stem cell division	biolink:OntologyClass	mondo			regulation of somatic stem cell renewal	http://purl.obolibrary.org/obo/GO_1904675	Any process that modulates the frequency, rate or extent of somatic stem cell division.	
HGNC:7720	NEB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7720		
GO:1902020	negative regulation of cilium-dependent cell motility	biolink:OntologyClass	mondo			negative regulation of cilium cell motility|down-regulation of ciliary cell motility|down regulation of ciliary cell motility|negative regulation of ciliary cell motility|inhibition of ciliary cell motility|downregulation of ciliary cell motility	http://purl.obolibrary.org/obo/GO_1902020	Any process that stops, prevents or reduces the frequency, rate or extent of cilium-dependent cell motility.	
CHEBI:50248	hematologic agent	biolink:ChemicalSubstance	mondo			hematologic agents	http://purl.obolibrary.org/obo/CHEBI_50248	Drug that acts on blood and blood-forming organs and those that affect the hemostatic system.	
CHEBI:50249	anticoagulant	biolink:ChemicalSubstance	mondo			anticoagulante|anticoagulants	http://purl.obolibrary.org/obo/CHEBI_50249	An agent that prevents blood clotting.	
HGNC:7728	NEDD4L	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7728		
GO:1904689	negative regulation of cytoplasmic translational initiation	biolink:OntologyClass	mondo			downregulation of cytoplasmic translational initiation|down regulation of cytoplasmic translational initiation|inhibition of cytoplasmic translational initiation|down-regulation of cytoplasmic translational initiation	http://purl.obolibrary.org/obo/GO_1904689	Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic translational initiation.	
GO:1904688	regulation of cytoplasmic translational initiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1904688	Any process that modulates the frequency, rate or extent of cytoplasmic translational initiation.	
GO:1904690	positive regulation of cytoplasmic translational initiation	biolink:OntologyClass	mondo			activation of cytoplasmic translational initiation|upregulation of cytoplasmic translational initiation|up regulation of cytoplasmic translational initiation|up-regulation of cytoplasmic translational initiation	http://purl.obolibrary.org/obo/GO_1904690	Any process that activates or increases the frequency, rate or extent of cytoplasmic translational initiation.	
HGNC:7737	NEFH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7737		
HGNC:575	AP4S1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/575		
HGNC:574	AP4M1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/574		
HGNC:573	AP4E1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/573		
HGNC:7739	NEFL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7739		
HGNC:572	AP4B1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/572		
ENVO:01000617	lentic water body	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000617	A lentic water body is a water body in which the accumulated water, in its totality, has very little to no directed flow.	
HGNC:7745	NEK2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7745		
HGNC:7744	NEK1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7744		
GO:0003943	N-acetylgalactosamine-4-sulfatase activity	biolink:OntologyClass	mondo			chondroitinsulfatase|N-acetyl-D-galactosamine-4-sulfate 4-sulfohydrolase activity|N-acetylgalactosamine-4-sulphatase activity|acetylgalactosamine 4-sulfatase activity|arylsulfatase B|N-acetylgalactosamine 4-sulfate sulfohydrolase activity	http://purl.obolibrary.org/obo/GO_0003943	Catalysis of the hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate.	
GO:0003940	L-iduronidase activity	biolink:OntologyClass	mondo			alpha-L-iduronidase activity|glycosaminoglycan alpha-L-iduronohydrolase activity	http://purl.obolibrary.org/obo/GO_0003940	Catalysis of the hydrolysis of alpha-L-iduronosidic linkages in dermatan sulfate.	
GO:0015929	hexosaminidase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0015929	Catalysis of the cleavage of hexosamine or N-acetylhexosamine residues (e.g. N-acetylglucosamine) residues from gangliosides or other glycoside oligosaccharides.	
HGNC:583	APC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/583		
HGNC:582	APBB2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/582		
GO:0015925	galactosidase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0015925	Catalysis of the hydrolysis of galactosyl compounds, substances containing a group derived from a cyclic form of galactose or a galactose derivative.	
GO:0015926	glucosidase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0015926	Catalysis of the hydrolysis of glucosyl compounds, substances containing a group derived from a cyclic form of glucose or a glucose derivative.	
GO:0015927	trehalase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0015927	Catalysis of the hydrolysis of trehalose or a trehalose derivative.	
GO:0015923	mannosidase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0015923	Catalysis of the hydrolysis of mannosyl compounds, substances containing a group derived from a cyclic form of mannose or a mannose derivative.	
HGNC:7758	NEU1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7758		
HGNC:559	AP1S1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/559		
MONDO:0001602	labia minora carcinoma	biolink:Disease	mondo	NCIT:C9364|UMLS:C1334357|DOID:1293		carcinoma of labia minora|labia minora carcinoma|labia minora cancer|carcinoma of the labia minora|carcinoma of labium minora|labium minora carcinoma	http://purl.obolibrary.org/obo/MONDO_0001602	A carcinoma that arises from the labia minora.	UMLS:C1334357|NCIT:C9364|DOID:1293
MONDO:0001601	Plasmodium ovale malaria	biolink:Disease	mondo	SCTID:19341001|DOID:12919|ICD10:B53.0|ICD9:084.3|UMLS:C0152072		ovale malaria|Malariaby Plasmodium ovale	http://purl.obolibrary.org/obo/MONDO_0001601	An malaria caused by infection with Plasmodium ovale.	DOID:12919|UMLS:C0152072|SNOMEDCT:19341001
MONDO:0001600	mucocele of salivary gland	biolink:Disease	mondo	ICD9:527.6|ICD10:K11.6|DOID:12904|COHD:24977|UMLS:C2242813|SCTID:69825009|UMLS:C0026686|MESH:D011900		mucous retention cyst of salivary gland|ranula|salivary cyst|salivary gland mucocele	http://purl.obolibrary.org/obo/MONDO_0001600	A benign cyst located in the salivary gland that is lined by epithelium and filled with mucoid fluid, tissue, or other material; it is usually caused by duct obstruction.	SNOMEDCT:69825009|DOID:12904|UMLS:C0026686|UMLS:C2242813|MESH:D011900|NCIT:C27649
UBERON:0010223	left pupil	biolink:AnatomicalEntity	mondo			pupil of left eye	http://purl.obolibrary.org/obo/UBERON_0010223	A pupil that is part of a left eye.	
UBERON:0010224	right pupil	biolink:AnatomicalEntity	mondo			pupil of right eye	http://purl.obolibrary.org/obo/UBERON_0010224	A pupil that is part of a right eye.	
UBERON:0010221	laryngeal associated mesenchyme	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010221		
UBERON:0010222	anatomical line between pupils	biolink:AnatomicalEntity	mondo			inter-pupillary line|interpupillary line	http://purl.obolibrary.org/obo/UBERON_0010222		
HGNC:7765	NF1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7765		
HGNC:5102	HOXA13	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5102		
HGNC:5103	HOXA2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5103		
GO:1902064	regulation of transcription from RNA polymerase II promoter involved in spermatogenesis	biolink:OntologyClass	mondo			regulation of transcription from Pol II promoter involved in generation of spermatozoa|regulation of transcription from RNA polymerase II promoter, global involved in generation of spermatozoa|regulation of gene-specific transcription from RNA polymerase II promoter involved in spermatogenesis|regulation of global transcription from Pol II promoter involved in spermatogenesis|regulation of transcription from RNA polymerase II promoter involved in generation of spermatozoa|regulation of transcription from Pol II promoter involved in spermatogenesis|regulation of transcription from RNA polymerase II promoter, global involved in spermatogenesis|global transcription regulation from Pol II promoter involved in generation of spermatozoa|regulation of gene-specific transcription from RNA polymerase II promoter involved in generation of spermatozoa|global transcription regulation from Pol II promoter involved in spermatogenesis|regulation of global transcription from Pol II promoter involved in generation of spermatozoa	http://purl.obolibrary.org/obo/GO_1902064	Any regulation of transcription from RNA polymerase II promoter that is involved in spermatogenesis.	
HGNC:7762	NEUROD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7762		
HGNC:5101	HOXA11	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5101		
HGNC:568	AP3D1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/568		
HGNC:567	AP3B2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/567		
MONDO:0001613	vertebrobasilar insufficiency	biolink:Disease	mondo	DOID:13003|UMLS:C0042568|EFO:1001449|MESH:D014715|COHD:376714|SCTID:195199008|ICD10:G45.0|ICD9:435.3		vertebrobasilar insufficiency|vertebrobasilar artery syndrome|vertebrobasilar arterial insufficiency|vertebro-basilar insufficiency	http://purl.obolibrary.org/obo/MONDO_0001613	Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the brain stem; cerebellum; occipital lobe; medial temporal lobe; and thalamus. Characteristic clinical features include syncope; lightheadedness; visual disturbances; and vertigo. brain stem infarctions or other brain infarction may be associated.	MESH:D014715|UMLS:C0042568|DOID:13003|SNOMEDCT:195199008
HGNC:566	AP3B1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/566		
MONDO:0001612	carotid stenosis	biolink:Disease	mondo	HP:0100546|DOID:13001|ICD9:433.10|SCTID:64586002|NCIT:C95804|UMLS:C0007282|MESH:D016893		stenosis, carotid artery|carotid artery stenosis	http://purl.obolibrary.org/obo/MONDO_0001612	A narrowing of the carotid artery lumen. It is usually caused by the formation of an atherosclerotic plaque. Symptoms are usually present when there is severe narrowing or obstruction of the arterial lumen and manifest as ischemic cerebrovascular accidents.	SNOMEDCT:64586002|MESH:D016893|NCIT:C95804|DOID:13001|UMLS:C0007282
HGNC:565	AP2S1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/565		
MONDO:0001611	phlegmonous dacryocystitis	biolink:Disease	mondo	SCTID:64324003|ICD9:375.33|ICD10:H04.31|DOID:12997|UMLS:C0155238			http://purl.obolibrary.org/obo/MONDO_0001611		SNOMEDCT:64324003|UMLS:C0155238|DOID:12997
MONDO:0001610	acute dacryocystitis	biolink:Disease	mondo	COHD:438761|ICD10:H04.32|ICD9:375.32|SCTID:25470000|DOID:12996|UMLS:C0155237		dacryocystitis - acute|dacryocystitis, acute	http://purl.obolibrary.org/obo/MONDO_0001610	Acute form of dacryocystitis.	SNOMEDCT:25470000|UMLS:C0155237|DOID:12996
UBERON:0010212	laryngeal apparatus	biolink:AnatomicalEntity	mondo			laryngeal cartilage system	http://purl.obolibrary.org/obo/UBERON_0010212	Apparatus located between the lungs and the buccal cavity. This apparatus is composed of a pair of arytenoid cartilages that are supported by the cricoid ring.	
UBERON:0010213	laryngeal pre-cartilage condensation	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010213		
CHEBI:37246	elemental sodium	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_37246		
UBERON:0010204	tail vasculature	biolink:AnatomicalEntity	mondo			post-vent vasculature|tail vasculature	http://purl.obolibrary.org/obo/UBERON_0010204	A vasculature that is part of a post-anal tail.	
MONDO:0001606	central nervous system leukemia	biolink:Disease	mondo	UMLS:C1332884|DOID:12969|NCIT:C5440		CNS leukemia|leukemia (disease) of central nervous system|central nervous system leukemia|central nervous system leukemia (disease)|leukemia of the CNS|leukemia of CNS|leukemia of central nervous system|leukemia of the central nervous system	http://purl.obolibrary.org/obo/MONDO_0001606	Leukemia infiltrating the central nervous system structures.	NCIT:C5440|DOID:12969|UMLS:C1332884
MONDO:0001605		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001605		
MONDO:0001604	lagophthalmos	biolink:Disease	mondo	ICD9:374.2|DOID:12959|UMLS:C0152226|ICD9:374.20|ICD10:H02.2|COHD:381021|SCTID:60735000|ICD10:H02.20			http://purl.obolibrary.org/obo/MONDO_0001604		DOID:12959|UMLS:C0152226|SNOMEDCT:60735000
MONDO:0001603	paralytic lagophthalmos (disease)	biolink:Disease	mondo	UMLS:C0155197|ICD9:374.21|COHD:375821|DOID:12958|ICD10:H02.23|HP:0030003		paralytic lagophthalmos	http://purl.obolibrary.org/obo/MONDO_0001603		DOID:12958|UMLS:C0155197
MONDO:0001609	agranulocytosis	biolink:Disease	mondo	DOID:12987|SCTID:417672002|ICD9:288.8|GARD:0006545|ICD10:D70|NCIT:C2863|MESH:D000380|UMLS:C0001824		Granulocytopenic disorder|granulocytopenia|Granulopenia	http://purl.obolibrary.org/obo/MONDO_0001609	A decrease in the number of mature granulocytes (neutrophils, eosinophils, and basophils) in the peripheral blood.	DOID:12987|NCIT:C2863|MESH:D000380|SNOMEDCT:417672002|UMLS:C0001824
MONDO:0001608	vagus nerve neoplasm	biolink:Disease	mondo	NCIT:C5831|UMLS:C1263901|DOID:12984|SCTID:126976007|ICD9:239.7		neoplasm of the Vagus nerve|neoplasm of the tenth cranial nerve|neoplasm of Vagus nerve|tenth cranial nerve neoplasm|vagus nerve neoplasm (disease)|Vagus nerve neoplasm|neoplasm of tenth cranial nerve|Vagus nerve tumor|tenth cranial nerve tumor|tenth cranial nerve tumors|Vagus nerve neoplasms|tenth cranial nerve neoplasms|neoplasm of vagus nerve|vagus nerve tumor|tumor of the Vagus nerve|tumor of Vagus nerve|tumor of the tenth cranial nerve|tumor of tenth cranial nerve|Vagus nerve tumors|Xth cranial nerve neoplasms|Xth cranial nerve tumors|tumor of vagus nerve	http://purl.obolibrary.org/obo/MONDO_0001608	A neoplasm involving a vagus nerve.	DOID:12984|UMLS:C1263901|NCIT:C5831|SNOMEDCT:126976007
HGNC:5111	HOXB1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5111		
MONDO:0001607	intrapelvic lymph node leukemic reticuloendotheliosis	biolink:Disease	mondo	ICD9:202.46|DOID:12972|UMLS:C0153831|SCTID:93145002		leukemic reticuloendotheliosis involving intrapelvic lymph nodes|leukemic reticuloendotheliosis of intrapelvic lymph nodes	http://purl.obolibrary.org/obo/MONDO_0001607		DOID:12972|UMLS:C0153831|SNOMEDCT:93145002
HGNC:7773	NF2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7773		
HGNC:5125	HOXC13	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5125		
HGNC:7788	NFIX	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7788		
HGNC:26392	PTCHD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26392		
UBERON:0009210	pharyngeal membrane	biolink:AnatomicalEntity	mondo			pharyngeal membrane|branchial membrane|branchial arch membrane	http://purl.obolibrary.org/obo/UBERON_0009210	A thin fold of ectoderm and endoderm that separates the pharyngeal pouches from the pharyngeal clefts in a developing embryo.	
UBERON:0009213	pharyngeal membrane of 1st arch	biolink:AnatomicalEntity	mondo			1st pharyngeal membrane|future tympanic membrane|tympanic membrane primordium|1st branchial membrane	http://purl.obolibrary.org/obo/UBERON_0009213	A pharyngeal membrane that separates the first pharyngeal cleft from the first pharyngeal pouch.	
HGNC:7784	NFIA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7784		
CHEBI:25248	methyl ester	biolink:ChemicalSubstance	mondo			carboxylic acid methyl esters|carboxylic acid methyl ester	http://purl.obolibrary.org/obo/CHEBI_25248	Any carboxylic ester resulting from the formal condensation of a carboxy group with methanol.	
HGNC:543	ANXA5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/543		
GO:1902098	calcitriol binding	biolink:OntologyClass	mondo			hormonally active vitamin D3 binding|1alpha,25-dihydroxyvitamin D3 binding|1alpha,25-dihydroxycholecalciferol binding|1,25-dihydroxyvitamin D3 binding|1alpha,25(OH)2D3 binding|1alpha,25(OH)2 vitamin D3 binding|1,25-dihydroxycholecalciferol binding	http://purl.obolibrary.org/obo/GO_1902098	Interacting selectively and non-covalently with calcitriol. Calcitriol (1,25-dihydroxycholecalciferol) is the hormonally active form of vitamin D3.	
UBERON:0009205	lateral nasal process mesenchyme	biolink:AnatomicalEntity	mondo			mesenchyme of latero-nasal process	http://purl.obolibrary.org/obo/UBERON_0009205	Mesenchyme that is part of a lateral nasal prominence.	
HGNC:5136	HOXD13	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5136		
UBERON:0009206	lateral nasal process surface ectoderm	biolink:AnatomicalEntity	mondo			ectoderm of latero-nasal process	http://purl.obolibrary.org/obo/UBERON_0009206	An ectoderm that is part of a lateral nasal prominence.	
HGNC:7797	NFKBIA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7797		
GO:1902093	positive regulation of flagellated sperm motility	biolink:OntologyClass	mondo			up regulation of sperm motility|up-regulation of sperm motility|activation of sperm movement|upregulation of sperm movement|activation of sperm motility|positive regulation of sperm movement|up regulation of sperm movement|upregulation of sperm motility|up-regulation of sperm movement|positive regulation of sperm motility	http://purl.obolibrary.org/obo/GO_1902093	Any process that activates or increases the frequency, rate or extent of flagellated sperm motility.	
UBERON:0009200	limb epidermis	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009200	The limb epidermis is the outer epithelial layer of the limb, it is a complex stratified squamous epithelium.	
HGNC:7794	NFKB1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7794		
UBERON:0009201	nephric duct	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009201	A nephric duct is a tube that drains a primitive kidney[GO].	
HGNC:5133	HOXD10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5133		
HGNC:7795	NFKB2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7795		
UBERON:0009204	medial nasal process mesenchyme	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009204	Mesenchyme that is part of a medial nasal prominence.	
ENVO:01000554	hydrocarbon gas	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000554	A gas that is primarily composed of hydrocarbon molecules.	
CL:0000127	astrocyte	biolink:Cell	mondo	BTO:0000099|FMA:54537|CALOHA:TS-0060		astrocytic glia	http://purl.obolibrary.org/obo/CL_0000127	A class of large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord. Astrocytes (from 'star' cells) are irregularly shaped with many long processes, including those with 'end feet' which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier. They regulate the extracellular ionic and chemical environment, and 'reactive astrocytes' (along with microglia) respond to injury.	
HGNC:26498	ZNF513	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26498		
CL:0000123	neuron associated cell (sensu Vertebrata)	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000123		
CL:0000125	glial cell	biolink:Cell	mondo	CALOHA:TS-0415|BTO:0002606|FMA:54536		neuroglia|neuroglial cell	http://purl.obolibrary.org/obo/CL_0000125	A non-neuronal cell of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu. Guide neuronal migration during development, and exchange metabolites with neurons.	
CL:0000126	macroglial cell	biolink:Cell	mondo	BTO:0000771|CALOHA:TS-2027|FMA:54538		macrogliocyte	http://purl.obolibrary.org/obo/CL_0000126	A neuroglial cell of ectodermal origin, i.e., the astrocytes and oligodendrocytes considered together.	
GO:0015893	drug transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0015893	The directed movement of a drug, a substance used in the diagnosis, treatment or prevention of a disease, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
GO:0052856	NADHX epimerase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0052856	Catalysis of the reaction: (R)-NADHX = (S)-NADHX.	
ENVO:01000543	atmospheric layer	biolink:OntologyClass	mondo			atmospheric layering	http://purl.obolibrary.org/obo/ENVO_01000543	A layer that is part of the atmosphere.	
ENVO:01000544	boundary layer	biolink:OntologyClass	mondo			boundary layer	http://purl.obolibrary.org/obo/ENVO_01000544	A boundary layer is a layer of fluid in the immediate vicinity of a bounding surface where the effects of viscosity are significant enough to distort the surrounding non-viscous flow.	
CL:0000138	chondrocyte	biolink:Cell	mondo	CALOHA:TS-0138|FMA:66782|BTO:0000249		cartilage cell	http://purl.obolibrary.org/obo/CL_0000138	Skeletogenic cell that is terminally differentiated, secretes an avascular, GAG-rich matrix, is embedded in cartilage tissue matrix, retains the ability to divide, and develops from a chondroblast cell.	
CL:0000133	neurectodermal cell	biolink:Cell	mondo			neurectoderm cell	http://purl.obolibrary.org/obo/CL_0000133	Ectoderm destined to be nervous tissue.	
CL:0000134	mesenchymal stem cell	biolink:Cell	mondo	BTO:0003298|FMA:70546|BTO:0002625		colony-forming unit-fibroblast|MSC|BMSC|mesenchymal stromal cells|mesenchymal precursor cell|mesenchymal stem cell|mesenchymal stromal cell|mesenchymal progenitor cells|stem cells, mesenchymal|bone marrow stromal cells|marrow stromal cells|CFU-F	http://purl.obolibrary.org/obo/CL_0000134	A connective tissue cell that normally gives rise to other cells that are organized as three-dimensional masses. In humans, this cell type is CD73-positive, CD90-positive, CD105-positive, CD45-negative, CD34-negative, and MHCII-negative. They may further differentiate into osteoblasts, adipocytes, myocytes, neurons, or chondroblasts in vitro. Originally described as residing in the bone marrow, this cell type is now known to reside in many, if not all, adult organs.	
CL:0000136	fat cell	biolink:Cell	mondo	FMA:63880|CALOHA:TS-0012|BTO:0000443		adipocyte|adipose cell	http://purl.obolibrary.org/obo/CL_0000136	A fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals. Fat is usually stored in the form of triglycerides.	
MONDO:0023093	exertional headache	biolink:Disease	mondo	GARD:0010800	gard_rare	primary Exertional headache|primary headache associated with sexual activity	http://purl.obolibrary.org/obo/MONDO_0023093		
MONDO:0023094	exogenous ochronosis	biolink:Disease	mondo	SCTID:410041002|GARD:0010757|MESH:C531762|ICD9:270.2	gard_rare	ocular ochronosis|pseudo-ochronosis|exogenous ochronosis|ochronosis, acquired	http://purl.obolibrary.org/obo/MONDO_0023094	Exogenous ochronosis refers tothe bluish-black discoloration of certain tissues, such as the ear cartilage, the ocular (eye) tissue, and other body locations when it is due toexposure to various substances.It has been reported most commonly with topical application of hydroquinones to the skin. The discolorationmay becaused byan effect ontyrosinase(an enzyme located in melanocytes, which are skincells that produce pigment), or by inhibiting homogentisic acid oxidase, resulting in the accumulation and deposition of homogentisic acid (HGA) in cartilage. The discoloration is often permanent, but when exogenous ochronosis is caused by topical hydroquinones, carbon dioxide lasers and dermabrasion have been reported to be helpful. Exogenous ochronosis is different from hereditary ochronosis, which is an inherited condition that occurs with alkaptonuria.	SNOMEDCT:410041002|MESH:C531762
MONDO:0023097	obsolete exostoses anetodermia brachydactyly type E	biolink:Disease	mondo	GARD:0002202	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023097		
MONDO:0023098	extrasystoles short stature hyperpigmentation microcephaly	biolink:Disease	mondo	GARD:0002213	gard_rare	Char douglas Dungan syndrome	http://purl.obolibrary.org/obo/MONDO_0023098		
MONDO:0023099	FRAXD syndrome	biolink:Disease	mondo	GARD:0002377	gard_rare	FRAXD	http://purl.obolibrary.org/obo/MONDO_0023099		
CL:0000100	motor neuron	biolink:Cell	mondo	BTO:0000312|FMA:83617|WBbt:0005409		motoneuron	http://purl.obolibrary.org/obo/CL_0000100	An efferent neuron that passes from the central nervous system or a ganglion toward or to a muscle and conducts an impulse that causes or inhibits movement.	
CL:0000101	sensory neuron	biolink:Cell	mondo	WBbt:0005759|BTO:0001037|FMA:84649|FBbt:00005124			http://purl.obolibrary.org/obo/CL_0000101	Any neuron having a sensory function; an afferent neuron conveying sensory impulses.	
GO:0015872	dopamine transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0015872	The directed movement of dopamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Dopamine is a catecholamine neurotransmitter and a metabolic precursor of noradrenaline and adrenaline.	
MONDO:0023091	esophageal atresia coloboma talipes	biolink:Disease	mondo	GARD:0002196	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023091		
MONDO:0023089	erythroplakia	biolink:Disease	mondo	UMLS:C0014818|GARD:0006378|NCIT:C3025|EFO:1001786	gard_rare	erythroplakia	http://purl.obolibrary.org/obo/MONDO_0023089	A clinical term that refers to the presence of a red flat and well defined lesion on the oral mucosa that is not caused by trauma, vascular, or inflammatory processes. It is a precancerous condition and is seen more commonly in middle aged or older males. It is associated with tobacco and alcohol consumption. Microscopic examination reveals severe epithelial dysplasia, carcinoma in situ, or invasive squamous cell carcinoma.	NCIT:C3025|UMLS:C0014818
MONDO:0023083	epimetaphyseal dysplasia cataract	biolink:Disease	mondo	GARD:0002175	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023083		
MONDO:0023084	epiphyseal dysplasia dysmorphism camptodactyly	biolink:Disease	mondo	GARD:0002177	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023084		
GO:0015888	thiamine transport	biolink:OntologyClass	mondo			thiamin transport|vitamin B1 transport	http://purl.obolibrary.org/obo/GO_0015888	The directed movement of thiamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Thiamine is vitamin B1, a water soluble vitamin present in fresh vegetables and meats, especially liver.	
GO:0015889	cobalamin transport	biolink:OntologyClass	mondo			vitamin B12 transport	http://purl.obolibrary.org/obo/GO_0015889	The directed movement of cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
CL:0000114	surface ectodermal cell	biolink:Cell	mondo	FMA:72552		cell of surface ectoderm|surface ectoderm cell	http://purl.obolibrary.org/obo/CL_0000114		
CL:0000115	endothelial cell	biolink:Cell	mondo	FMA:66772|BTO:0001176|CALOHA:TS-0278		endotheliocyte	http://purl.obolibrary.org/obo/CL_0000115	An endothelial cell comprises the outermost layer or lining of anatomical structures and can be squamous or cuboidal. In mammals, endothelial cell has vimentin filaments and is derived from the mesoderm.	
CHEBI:50183	P450 inhibitor	biolink:ChemicalSubstance	mondo			P450 inhibitors|cytochrome P450 inhibitors|CYP2D6 inhbitor|CYP2D6 inhbitors|cytochrome P450 inhibitor	http://purl.obolibrary.org/obo/CHEBI_50183	An enzyme inhibitor that interferes with the activity of cytochrome P450 involved in catalysis of organic substances.	
UBERON:0000930	stomodeum	biolink:AnatomicalEntity	mondo			oral ectoderm|stomodaeum|mouth primordium|primitive oral cavity|stomodeal-hypophyseal primordium|mouth pit|stomatodeum|oral pit	http://purl.obolibrary.org/obo/UBERON_0000930	Anterior part of the embryonic digestive tract that develops into a mouth. The stomodeum includes as parts an invagination of the ectoderm and the stomodeal cavity.	
GO:0003872	6-phosphofructokinase activity	biolink:OntologyClass	mondo			nucleotide triphosphate-dependent phosphofructokinase activity|phosphohexokinase activity|PFK|6-phosphofructokinase reduction|phosphofructokinase I activity|phospho-1,6-fructokinase activity|fructose 6-phosphokinase activity|D-fructose-6-phosphate 1-phosphotransferase activity|phosphofructokinase (phosphorylating)|ATP:D-fructose-6-phosphate 1-phosphotransferase activity|ATP-dependent phosphofructokinase activity|6-phosphofructose 1-kinase activity|fructose 6-phosphate kinase activity	http://purl.obolibrary.org/obo/GO_0003872	Catalysis of the reaction: ATP + D-fructose-6-phosphate = ADP + D-fructose 1,6-bisphosphate.	
UBERON:0000931	proctodeum	biolink:AnatomicalEntity	mondo			proctodaeum|anal pit|amnioproctodeal invagination|embryonic proctodaeum|anus porus	http://purl.obolibrary.org/obo/UBERON_0000931	Inward fold on the surface of the embryonic ectoderm that develops into an ectodermal terminal part of the digestive tract.	
GO:0015850	organic hydroxy compound transport	biolink:OntologyClass	mondo			organic alcohol transport	http://purl.obolibrary.org/obo/GO_0015850	The directed movement of an organic hydroxy compound (organic alcohol) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. An organic hydroxy compound is an organic compound having at least one hydroxy group attached to a carbon atom.	
CHEBI:50177	dermatologic drug	biolink:ChemicalSubstance	mondo			dermatological agent|dermatologic agent|dermatologic drugs	http://purl.obolibrary.org/obo/CHEBI_50177	A drug used to treat or prevent skin disorders or for the routine care of skin.	
CHEBI:50176	keratolytic drug	biolink:ChemicalSubstance	mondo			skin-peeling agent|desquamating agent|keratolytic agent|keratolytic drugs	http://purl.obolibrary.org/obo/CHEBI_50176	A drug that softens, separates, and causes desquamation of the cornified epithelium or horny layer of skin. Keratolytic drugs are used to expose mycelia of infecting fungi or to treat corns, warts, and certain other skin diseases.	
UBERON:0000923	germ layer	biolink:AnatomicalEntity	mondo			embryonic tissue|embryonic germ layers|primary germ layer|embryonic germ layer|germinal layer	http://purl.obolibrary.org/obo/UBERON_0000923	A layer of cells produced during the process of gastrulation during the early development of the animal embryo, which is distinct from other such layers of cells, as an early step of cell differentiation. The three types of germ layers are the endoderm, ectoderm, and mesoderm.	
UBERON:0000924	ectoderm	biolink:AnatomicalEntity	mondo			embryonic ectoderm	http://purl.obolibrary.org/obo/UBERON_0000924	Primary germ layer that is the outer of the embryo's three germ layers and gives rise to epidermis and neural tissue.	
UBERON:0000925	endoderm	biolink:AnatomicalEntity	mondo			entoderm	http://purl.obolibrary.org/obo/UBERON_0000925	Primary germ layer that lies remote from the surface of the embryo and gives rise to internal tissues such as gut.	
UBERON:0000926	mesoderm	biolink:AnatomicalEntity	mondo			mesodermal mantle|embryonic mesoderm|entire mesoderm	http://purl.obolibrary.org/obo/UBERON_0000926	The middle germ layer of the embryo, between the endoderm and ectoderm.	
UBERON:0000922	embryo	biolink:AnatomicalEntity	mondo			developmental tissue|developing organism|embryonic organism	http://purl.obolibrary.org/obo/UBERON_0000922	Anatomical entity that comprises the organism in the early stages of growth and differentiation that are characterized by cleavage, the laying down of fundamental tissues, and the formation of primitive organs and organ systems. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant.	
UBERON:0000929	pharyngeal branch of vagus nerve	biolink:AnatomicalEntity	mondo			pharyngeal branch of vagus|pharyngeal branch of inferior vagal ganglion|ramus pharyngealis nervi vagalis|vagal pharyngeal branch|vagus nerve pharyngeal branch|tenth cranial nerve pharyngeal branch|ramus pharyngeus|ramus pharyngeus nervi vagi|pharyngeal branch	http://purl.obolibrary.org/obo/UBERON_0000929	Motor nerve of the pharynx, arises from the upper part of the ganglion nodosum, and consists principally of filaments from the cranial portion of the accessory nerve.	
UBERON:0000912	mucus	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0000912	Mucus is a bodily fluid consisting of a slippery secretion of the lining of the mucous membranes in the body. It is a viscous colloid containing antiseptic enzymes (such as lysozyme) and immunoglobulins. Mucus is produced by goblet cells in the mucous membranes that cover the surfaces of the membranes. It is made up of mucins and inorganic salts suspended in water.	
UBERON:0000913	interstitial fluid	biolink:AnatomicalEntity	mondo			intercellular fluid|tissue fluid	http://purl.obolibrary.org/obo/UBERON_0000913	Interstitial fluid is a bodily fluid consisting of a solution which bathes and surrounds the cells of multicellular animals. It is the main component of the extracellular fluid, which also includes plasma and transcellular fluid.	
UBERON:0000915	thoracic segment of trunk	biolink:AnatomicalEntity	mondo			anterior subdivision of trunk|upper trunk|thorax|upper body	http://purl.obolibrary.org/obo/UBERON_0000915	Subdivision of trunk that lies between the head and the abdomen.	
CHEBI:25196	mercury molecular entity	biolink:ChemicalSubstance	mondo			mercury molecular entities|mercury compounds	http://purl.obolibrary.org/obo/CHEBI_25196		
GO:1904659	glucose transmembrane transport	biolink:OntologyClass	mondo			glucose transport	http://purl.obolibrary.org/obo/GO_1904659	The process in which glucose is transported across a membrane.	
CHEBI:25195	mercury atom	biolink:ChemicalSubstance	mondo			mercury|Quecksilber|azogue|liquid silver|mercure|Hg|mercurio|quicksilver|hydrargyrum|mercury|80Hg	http://purl.obolibrary.org/obo/CHEBI_25195		
UBERON:0000916	abdomen	biolink:AnatomicalEntity	mondo			abdominopelvic region|abdominopelvis|belly|adult abdomen|celiac region	http://purl.obolibrary.org/obo/UBERON_0000916	The subdivision of the vertebrate body between the thorax and pelvis. The ventral part of the abdomen contains the abdominal cavity and visceral organs. The dorsal part includes the abdominal section of the vertebral column.	
GO:0015837	amine transport	biolink:OntologyClass	mondo			amine/polyamine transport	http://purl.obolibrary.org/obo/GO_0015837	The directed movement of amines, including polyamines, organic compounds containing one or more amino groups, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
CHEBI:49169	D-dopa	biolink:ChemicalSubstance	mondo			(+)-3-(3,4-dihydroxyphenyl)alanine|D-3,4-dihydroxyphenylalanine|dopa D-form|(+)-3,4-dihydroxyphenylalanine|3-hydroxy-D-tyrosine|(2R)-2-amino-3-(3,4-dihydroxyphenyl)propanoic acid|D-dopa|3,4-dihydroxy-D-phenylalanine|D-3-(3,4-dihydroxyphenyl)alanine	http://purl.obolibrary.org/obo/CHEBI_49169	The D-enantiomer of dopa.	
CHEBI:49168	dopa	biolink:ChemicalSubstance	mondo			dl-beta-(3,4-dihydroxyphenyl)-alpha-alanine|3-hydroxytyrosine|DL-3,4-dopa|dopa|(R,S)-dopa|3-hydroxy-DL-tyrosine|DL-dioxyphenylalanine|DL-dihydroxyphenylalanine|DL-beta-(3,4-dihydroxyphenyl)alanine|(+-)-3-(3,4-dihydroxyphenyl)alanine|beta-(3,4-dihydroxyphenyl)-DL-alpha-alanine|(+-)-dopa|3',4'-dihydroxyphenylalanine|2-amino-3-(3,4-dihydroxyphenyl)propanoic acid	http://purl.obolibrary.org/obo/CHEBI_49168	A hydroxyphenylalanine carrying hydroxy substituents at positions 3 and 4 of the benzene ring.	
GO:0015833	peptide transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0015833	The directed movement of peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
HGNC:7703	NDUFB8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7703		
HGNC:7704	NDUFB9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7704		
CHEBI:37175	organic hydride	biolink:ChemicalSubstance	mondo			organic hydrides	http://purl.obolibrary.org/obo/CHEBI_37175		
CHEBI:37176	mononuclear parent hydride	biolink:ChemicalSubstance	mondo			mononuclear hydrides|mononuclear parent hydrides|mononuclear hydride	http://purl.obolibrary.org/obo/CHEBI_37176		
HGNC:14450	LPIN2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14450		
OIO:Subset		biolink:OntologyClass	mondo				http://www.geneontology.org/formats/oboInOwl#Subset		
GO:0003867	4-aminobutyrate transaminase activity	biolink:OntologyClass	mondo			gamma-aminobutyrate aminotransaminase activity|gamma-aminobutyric acid aminotransferase activity|gamma-aminobutyric acid transaminase activity|gamma-aminobutyrate transaminase activity|glutamate-succinic semialdehyde transaminase activity|4-aminobutyric acid aminotransferase activity|4-aminobutyrate aminotransferase activity|4-aminobutanoate transaminase activity|gamma-amino-N-butyrate transaminase activity|gamma-aminobutyric transaminase activity|GABA transaminase activity|GABA aminotransferase activity|GABA transferase activity|aminobutyrate transaminase activity|aminobutyrate aminotransferase activity|beta-alanine aminotransferase	http://purl.obolibrary.org/obo/GO_0003867	Catalysis of the reaction: 4-aminobutanoate + amino group acceptor = succinate semialdehyde + amino acid.	
HGNC:7707	NDUFS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7707		
HGNC:7708	NDUFS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7708		
HGNC:26444	UROC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26444		
GO:0015849	organic acid transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0015849	The directed movement of organic acids, any acidic compound containing carbon in covalent linkage, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
HGNC:7710	NDUFS3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7710		
GO:0015844	monoamine transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0015844	The directed movement of monoamines, organic compounds that contain one amino group that is connected to an aromatic ring by an ethylene group (-CH2-CH2-), into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
HGNC:7711	NDUFS4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7711		
HGNC:7714	NDUFS7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7714		
HGNC:14468	SLC26A8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14468		
HGNC:7713	NDUFS6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7713		
HGNC:7716	NDUFV1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7716		
HGNC:7715	NDUFS8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7715		
MONDO:0023035	Eagle syndrome	biolink:Disease	mondo	MESH:C538010|SCTID:609143007|ICD9:733.99|GARD:0009401	gard_rare	elongated styloid process which causes cervico facial pain tinnitus and otalgia|styloid-stylohoid syndrome|Eagle's syndrome|elongated styloid process syndrome	http://purl.obolibrary.org/obo/MONDO_0023035	Eagle syndrome is characterized by recurrent pain in the middle part of the throat (oropharynx) and face. 'Classic Eagle syndrome' is typically seen in patients after throat trauma or tonsillectomy. Symptoms include dull and persistent throat pain that may radiate to the ear and worsen with rotation of the head. Other symptoms may include difficulty swallowing, feeling that there is something stuck in the throat, tinnitus, and neck or facial pain. A second form of Eagle syndrome unrelated to tonsillectomy causes compression of the vessel that carries blood to the brain, neck, and face (carotid artery). This form can cause headache. Eagle syndrome is due to a calcified stylohyoid ligament or an elongated styloid process. The styloid process is a pointed part of the temporal bone that serves as an anchor point for several muscles associated with the tongue and larynx. The mainstay treatment for Eagle syndrome is surgery to shorten the styloid process (styloidectomy). Medical management may include the use of pain and anti-inflammatory medications, antidepressants, and/or steroids. The overall success rate for treatment (medical or surgical) is about 80%.	MESH:C538010|SNOMEDCT:609143007
MONDO:0023037	obsolete elongated styloid process syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0023037		
MONDO:0023038	eccentrochondrodysplasia	biolink:Disease	mondo	GARD:0006314	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023038		
MONDO:0023039	eccrine mucinous carcinoma	biolink:Disease	mondo	UMLS:C0346020|GARD:0010465	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023039		UMLS:C0346020
ECTO:9000172	inorganic molecular entity exposure	biolink:OntologyClass	mondo			exposure to inorganic molecular entity	http://purl.obolibrary.org/obo/ECTO_9000172	An exposure to inorganic molecular entity.	
ECTO:9000171	acetate exposure	biolink:OntologyClass	mondo			exposure to acetate	http://purl.obolibrary.org/obo/ECTO_9000171	An exposure to acetate.	
MONDO:0023030	dysmorphism cleft palate loose skin	biolink:Disease	mondo	GARD:0002009	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023030		
MONDO:0023031	dysostosis acral with facial and genital abnormalities	biolink:Disease	mondo	GARD:0002013	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023031		
MONDO:0023033		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0023033		
MONDO:0011056	Wilms tumor 4	biolink:Disease	mondo	MESH:C563336|UMLS:C1832426|OMIM:601363		Wilms tumor 4|Wilms tumor type 4|WT4|Wilms tumor 4; WT4|familial Wilms tumor 1	http://purl.obolibrary.org/obo/MONDO_0011056		http://identifiers.org/omim/601363|UMLS:C1832426|MESH:C563336
MONDO:0011055	distal monosomy 10p	biolink:Disease	mondo	UMLS:C4304502|MESH:C563337|GARD:0001323|OMIM:601362|UMLS:C1832431|SCTID:719686003|ICD10:Q93.5|Orphanet:1580|NCIT:C130982	ordo_malformation_syndrome	DiGeorge syndrome/velocardiofacial syndrome Complex type 2|10p deletion|monosomy 10p|partial monosomy 10p|DiGeorge syndrome type 2|telomeric deletion 10p|10p monosomy|10p13-p14 Deletion syndrome|distal 10p deletion|Dgs2|chromosome 10p deletion|distal monosomy type 10p|DiGeorge syndrome/velocardiofacial syndrome complex 2|monosomy 10pter|deletion 10p	http://purl.obolibrary.org/obo/MONDO_0011055	Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13.	SNOMEDCT:719686003|http://identifiers.org/omim/601362|UMLS:C1832431|ORPHA:1580|UMLS:C4304502|MESH:C563337|NCIT:C130982
MONDO:0011058	autosomal dominant nonsyndromic deafness 9	biolink:Disease	mondo	UMLS:C1832425|DOID:0110593|MESH:C563335|OMIM:601369|ICD10:H90.3		DFNA9|autosomal dominant nonsyndromic deafness type 9|deafness, autosomal dominant type 9|deafness, autosomal dominant 9|COCH autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness caused by mutation in COCH|autosomal dominant deafness 9|deafness, autosomal dominant 9; DFNA9	http://purl.obolibrary.org/obo/MONDO_0011058	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COCH gene.	http://identifiers.org/omim/601369|UMLS:C1832425|DOID:0110593|MESH:C563335
MONDO:0011057	cerebrovascular disorder	biolink:Disease	mondo	ICD9:434.91|DOID:6713|NCIT:C2938|MESH:D002561|ICD9:437.8|ICD9:430-438.99|EFO:0003763|ICD10:I67.9|ICD10:I60-I69|UMLS:C0007820|ICD10:I63.9|SCTID:62914000|ICD10:I60.I69|ICD9:437.9		cerebrovascular disease|CVA|cerebrovascular accident|CVA (cerebral vascular accident)|cerebrovascular disorder|stroke|cerebral infarction	http://purl.obolibrary.org/obo/MONDO_0011057	A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction.	MESH:D002561|DOID:6713|NCIT:C2938|SNOMEDCT:62914000|UMLS:C0007820
MONDO:0011059	holoprosencephaly-craniosynostosis syndrome	biolink:Disease	mondo	ICD10:Q04.2|UMLS:C1832424|OMIM:601370|Orphanet:2163|SCTID:715434005|MESH:C537684|GARD:0002454	ordo_malformation_syndrome	Genoa syndrome|camera Lituania Cohen syndrome|holoprosencephaly craniosynostosis|Camero-Lituania-Cohen syndrome|Semilobar holoprosencephaly and primary craniosynostosis|holoprosencephaly, SEMILOBAR, with craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0011059	Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features.	http://identifiers.org/omim/601370|ORPHA:2163|UMLS:C1832424|MESH:C537684|SNOMEDCT:715434005
CHEBI:76760	EC 3.1.* (ester hydrolase) inhibitor	biolink:ChemicalSubstance	mondo			ester hydrolase (EC 3.1.*) inhibitor|ester hydrolase inhibitors|EC 3.1.* inhibitor|EC 3.1.* inhibitors|ester hydrolase inhibitor|ester hydrolase (EC 3.1.*) inhibitors|EC 3.1.* (ester hydrolase) inhibitors	http://purl.obolibrary.org/obo/CHEBI_76760	A hydrolase inhibitor that interferes with the action of any ester hydrolase (EC 3.1.*.*).	
MONDO:0011050	microcephaly-cardiac defect-lung malsegmentation syndrome	biolink:Disease	mondo	OMIM:601355|Orphanet:2516|MESH:C563341|SCTID:719379001|ICD10:Q87.8|GARD:0002098	ordo_malformation_syndrome	microcephaly, congenital heart disease, lung segmentation defects and unilateral renal agenesis|microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs|Ellis Yale Winter syndrome|Ellis-Yale-Winter syndrome	http://purl.obolibrary.org/obo/MONDO_0011050	Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.	SNOMEDCT:719379001|ORPHA:2516|MESH:C563341|UMLS:C2931129|http://identifiers.org/omim/601355
HGNC:14432	TMEM237	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14432		
MONDO:0011052	amelia cleft lip palate hydrocephalus iris coloboma	biolink:Disease	mondo	MESH:C536713|OMIM:601357|GARD:0000641|GARD:0000388|UMLS:C1832434	gard_rare	brachial AMELIA, cleft LIP, and holoprosencephaly|amelia cleft lip palate hydrocephalus iris coloboma|brachial amelia, forebrain defects, and Facial clefts|brachial AMELIA, cleft LIP, and holoprosencephaly; ACLH|bilateral brachial amelia, facial clefts, encephalocele, orbital cyst and omphalocele|brachial amelia, forebrain defects and facial clefts|ACLH	http://purl.obolibrary.org/obo/MONDO_0011052		UMLS:C1832434|MESH:C536713|http://identifiers.org/omim/601357
CHEBI:76764	EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor	biolink:ChemicalSubstance	mondo			EC 3.5.* (hydrolases acting on C-N bonds, other than peptide bonds) inhibitor|EC 3.5.* (hydrolases acting on C-N bonds, other than peptide bonds) inhibitors|EC 3.5.* (hydrolase acting on non-peptide C-N bond) inhibitor|EC 3.5.* inhibitor|EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitors|EC 3.5.* inhibitors|EC 3.5.* (hydrolase acting on non-peptide C-N bond) inhibitors	http://purl.obolibrary.org/obo/CHEBI_76764	Any hydrolase inhibitor that interferes with the action of a hydrolase acting on C-N bonds, other than peptide bonds (EC 3.5.*.*).	
MONDO:0011051	lethal short-limb skeletal dysplasia, Al Gazali type	biolink:Disease	mondo	OMIM:601356|MESH:C537598|UMLS:C1832435|GARD:0004827	gard_rare	lethal short-limb skeletal dysplasia, Al Gazali type|lethal short limb skeletal dysplasia Al Gazali type|lethal neonatal short limb dwarfism	http://purl.obolibrary.org/obo/MONDO_0011051		UMLS:C1832435|MESH:C537598|http://identifiers.org/omim/601356
MONDO:0011054	autosomal recessive amelia	biolink:Disease	mondo	UMLS:C1832432|Orphanet:1027|SCTID:726735000|ICD10:Q73.0|OMIM:601360|MESH:C563338	ordo_malformation_syndrome	amelia, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0011054	Autosomal recessive amelia is characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three foetuses born to non consanguineous parents.	http://identifiers.org/omim/601360|SNOMEDCT:726735000|ORPHA:1027|UMLS:C1832432|MESH:C563338
MONDO:0011053	intellectual disability-sparse hair-brachydactyly syndrome	biolink:Disease	mondo	UMLS:C1303073|GARD:0000270|Orphanet:3051|MESH:C536116|SCTID:401046009|OMIM:601358	ordo_malformation_syndrome	NBs|NICOLAIDES-Baraitser syndrome|sparse hair and mental retardation|NICOLAIDES-Baraitser syndrome; NCBRS|sparse hair and intellectual disability|Nicolaides-Baraitser syndrome|NCBRS	http://purl.obolibrary.org/obo/MONDO_0011053	Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.	UMLS:C1303073|MESH:C536116|SNOMEDCT:401046009|ORPHA:3051|http://identifiers.org/omim/601358
MONDO:0023023	neonatal dacryocystitis	biolink:Disease	mondo	SCTID:23735003|NCIT:C116819|UMLS:C0270178		Neonatal dacryocystitis|Neonatal Dacryocystitis|neonatal dacryocystitis	http://purl.obolibrary.org/obo/MONDO_0023023	Inflammation of the lacrimal sac in a newborn due to blocked drainage of tears or infection.	UMLS:C0270178|SNOMEDCT:23735003|NCIT:C116819
MONDO:0023020	dwarfism deafness retinitis pigmentosa	biolink:Disease	mondo	GARD:0001985	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023020		
MONDO:0023021	dwarfism lethal type advanced bone age	biolink:Disease	mondo	GARD:0001986	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023021		
MONDO:0023022	dwarfism thin bones multiple fractures	biolink:Disease	mondo	GARD:0001992	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023022		
MONDO:0011045	MMEP syndrome	biolink:Disease	mondo	SCTID:715533002|UMLS:C4275099|Orphanet:3434|GARD:0003693|UMLS:C1832440|ICD10:Q87.8|MESH:C537686|OMIM:601349	ordo_malformation_syndrome	microphthalmia, syndromic 8|microcephaly, microphthalmia, ectrodactyly of Lower limbs, and prognathism|MCOPS8|microcephaly microphthalmia ectrodactyly of lower limbs and prognathism|syndromic microphthalmia type 8|MMEP|Viljoen Smart syndrome|microphthalmia syndromic 8|microphthalmia, syndromic 8; MCOPS8|microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome|Viljoen-Smart syndrome	http://purl.obolibrary.org/obo/MONDO_0011045	A congenital syndromic form of split-hand/foot malformation (SHFM). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies.	http://identifiers.org/omim/601349|ORPHA:3434|UMLS:C1832440|SNOMEDCT:715533002|MESH:C537686|UMLS:C4275099
MONDO:0011044	ectrodactyly of lower limbs, congenital heart defect, and micrognathia	biolink:Disease	mondo	OMIM:601348|MESH:C563344|UMLS:C1832441		ectrodactyly of lower limbs, congenital heart defect, and micrognathia	http://purl.obolibrary.org/obo/MONDO_0011044		http://identifiers.org/omim/601348|UMLS:C1832441|MESH:C563344
MONDO:0011047	deafness-epiphyseal dysplasia-short stature syndrome	biolink:Disease	mondo	MESH:C535928|SCTID:716238003|Orphanet:3218|OMIM:601351|GARD:0001688|UMLS:C1832438	ordo_malformation_syndrome	deafness, femoral epiphyseal dysplasia, short stature and developmental delay|growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction|chitty-Hall-Baraitser syndrome|deafness, epiphyseal dysplasia, short stature	http://purl.obolibrary.org/obo/MONDO_0011047	This syndrome is characterised by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit).	ORPHA:3218|http://identifiers.org/omim/601351|UMLS:C1832438|SNOMEDCT:716238003|MESH:C535928
MONDO:0011046	short stature, Brussels type	biolink:Disease	mondo	Orphanet:2867|SCTID:719213009|UMLS:C1832439|ICD10:Q87.1|GARD:0004838|OMIM:601350|MESH:C537121	ordo_malformation_syndrome	familial short stature with facial dysmorphism and osteochondrodysplastic lesions|Mievis-Verellen-Dumoulin syndrome|short stature syndrome, Brussels type|Mievis Verellen-Dumoulin syndrome	http://purl.obolibrary.org/obo/MONDO_0011046	This syndrome is characterised by short stature presenting in the neonatal period associated with osteochondrodysplastic lesions and facial dysmorphism.	http://identifiers.org/omim/601350|MESH:C537121|UMLS:C1832439|ORPHA:2867|SNOMEDCT:719213009
MONDO:0011049	fine-Lubinsky syndrome	biolink:Disease	mondo	GARD:0000958|Orphanet:1272|MESH:C537933|ICD10:Q87.8|OMIM:601353|UMLS:C0795941|SCTID:720955004	gard_rare|ordo_malformation_syndrome	brachycephaly, deafness, cataract, microstomia, and mental retardation|brachycephaly-deafness-cataract-intellectual disability syndrome|brachycephaly, deafness, cataract, microstomia, and intellectual disability|brachycephaly, deafness, cataract and intellectual disability|fine-Lubinsky syndrome|brachycephaly, deafness, cataract and mental retardation	http://purl.obolibrary.org/obo/MONDO_0011049	Fine-Lubinsky syndrome is characterised by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies.	SNOMEDCT:720955004|http://identifiers.org/omim/601353|ORPHA:1272|UMLS:C0795941|MESH:C537933
MONDO:0011048	epilepsy-microcephaly-skeletal dysplasia syndrome	biolink:Disease	mondo	Orphanet:1948|ICD10:Q87.8|GARD:0000836|OMIM:601352	ordo_malformation_syndrome	Battaglia-Neri syndrome|mental retardation, microcephaly, epilepsy, and coarse face|epilepsy - microcephaly - skeletal dysplasia|intellectual disability, microcephaly, epilepsy, and coarse face	http://purl.obolibrary.org/obo/MONDO_0011048	Epilepsy-microcephaly-skeletal dysplasia syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two sibs (one male and one female). This syndrome is likely to be an autosomal recessive condition and thus parents should be informed of a 25% risk of recurrence for other children.	http://identifiers.org/omim/601352|MESH:C537662|ORPHA:1948
ECTO:9000175	metal cation exposure	biolink:OntologyClass	mondo			exposure to metal cation	http://purl.obolibrary.org/obo/ECTO_9000175	An exposure to metal cation.	
MONDO:0011041	ectodermal dysplasia with natal teeth, Turnpenny type	biolink:Disease	mondo	GARD:0010526|SCTID:715576000|MESH:C563347|OMIM:601345|UMLS:C1832444|Orphanet:69083	ordo_malformation_syndrome|gard_rare	ectodermal dysplasia, hair/Tooth type|ectodermal dysplasia with natal teeth Turnpenny type|ectodermal dysplasia with natal teeth, Turnpenny type	http://purl.obolibrary.org/obo/MONDO_0011041	Ectodermal dysplasia with natal teeth, Turnpenny type is characterised by hypo- or oligodontia and acanthosis nigricans. It has been described in four generations of one family. Onset generally occurs during adolescence. Some patients were born with multiple teeth. Hair anomalies (sparse body and scalp hair) were also reported. Inheritance is autosomal dominant.	http://identifiers.org/omim/601345|SNOMEDCT:715576000|UMLS:C1832444|ORPHA:69083|MESH:C563347
CHEBI:76775	EC 3.1.3.* (phosphoric monoester hydrolase) inhibitor	biolink:ChemicalSubstance	mondo			inhibitors of phosphoric monoester hydrolase (EC 3.1.3.*)|phosphoric monoester hydrolase inhibitor|phosphoric monoester hydrolase inhibitors|inhibitor of phosphoric monoester hydrolase (EC 3.1.3.*)|EC 3.1.3.* inhibitor|phosphoric monoester hydrolase (EC 3.1.3.*) inhibitor|inhibitor of phosphoric monoester hydrolase|inhibitors of phosphoric monoester hydrolase|EC 3.1.3.* (phosphoric monoester hydrolase) inhibitors|phosphoric monoester hydrolase (EC 3.1.3.*) inhibitors|EC 3.1.3.* inhibitors	http://purl.obolibrary.org/obo/CHEBI_76775	An EC 3.1.* (ester hydrolase) inhibitor that interferes with the action of any phosphoric monoester hydrolase (EC 3.1.3.*).	
MONDO:0011040	spinal dysplasia, Anhalt type	biolink:Disease	mondo	MESH:C563348|UMLS:C1832464|OMIM:601344		spinal dysplasia, Anhalt type	http://purl.obolibrary.org/obo/MONDO_0011040		http://identifiers.org/omim/601344|UMLS:C1832464|MESH:C563348
MONDO:0011043	myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay	biolink:Disease	mondo	UMLS:C1832442|MESH:C563345|OMIM:601347		myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay	http://purl.obolibrary.org/obo/MONDO_0011043		http://identifiers.org/omim/601347|UMLS:C1832442|MESH:C563345
CHEBI:76773	EC 3.1.1.* (carboxylic ester hydrolase) inhibitor	biolink:ChemicalSubstance	mondo			EC 3.1.1.* inhibitor|carboxylic ester hydrolase (EC 3.1.1.*) inhibitor|carboxylic ester hydrolase (EC 3.1.1.*) inhibitors|EC 3.1.1.* (carboxylic ester hydrolase) inhibitors|EC 3.1.1.* inhibitors	http://purl.obolibrary.org/obo/CHEBI_76773	An EC 3.1.* (ester hydrolase) inhibitor that interferes with the action of a carboxylic ester hydrolase (EC 3.1.1.*).	
MONDO:0011042	Martinez-Frias syndrome	biolink:Disease	mondo	UMLS:C1832443|Orphanet:137862|OMIM:601346|UMLS:CN199270		Martinez-Frias syndrome|pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula|Martínez-Frías syndrome	http://purl.obolibrary.org/obo/MONDO_0011042		http://identifiers.org/omim/601346|ORPHA:137862|UMLS:C1832443|UMLS:CN199270
MONDO:0023013	Duker-Weiss-Siber syndrome	biolink:Disease	mondo	MESH:C535719|UMLS:C2930993|GARD:0001918	gard_rare	microphthalmos, microencephaly, intellectual disability, agenesis of the corpus callosum, hypospadius, and cryptorchidism|Duker Weiss Siber syndrome|microphthalmos, microencephaly, mental retardation, agenesis of the corpus callosum, hypospadius, and cryptorchidism	http://purl.obolibrary.org/obo/MONDO_0023013		UMLS:C2930993|MESH:C535719
MONDO:0023015	duodenal atresia tetralogy of fallot	biolink:Disease	mondo	GARD:0001919	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023015		
MONDO:0023016	duplication of leg mirror foot	biolink:Disease	mondo	GARD:0001976	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023016		
MONDO:0023017	duplication of the thumb unilateral biphalangeal	biolink:Disease	mondo	GARD:0001977	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023017		
MONDO:0023018	dupont sellier chochillon syndrome	biolink:Disease	mondo	GARD:0001983	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023018		
MONDO:0023019	dwarfism bluish sclerae	biolink:Disease	mondo	GARD:0001984	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023019		
HGNC:14409	SLC25A19	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14409		
MONDO:0023011	Wilson-Mikity syndrome	biolink:Disease	mondo	UMLS:C0270171|GARD:0010495|SCTID:51577008	gard_rare	Pulmonary dysmaturity syndrome|Pulmonary dysmaturity|Wilson-Mikity syndrome|pulmonary dysmaturity|wilson-mikity syndrome	http://purl.obolibrary.org/obo/MONDO_0023011		SNOMEDCT:51577008|UMLS:C0270171
MONDO:0011034	odontomicronychial dysplasia	biolink:Disease	mondo	Orphanet:1811|GARD:0004053|MESH:C537741|UMLS:C1832473|OMIM:601319	gard_rare|ordo_malformation_syndrome	odontomicronychial dysplasia|ectodermal dysplasia, nail/Tooth type|odonto-micronychial dysplasia	http://purl.obolibrary.org/obo/MONDO_0011034	Odontomicronychial dysplasia is a rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails.	http://identifiers.org/omim/601319|UMLS:C1832473|MESH:C537741|ORPHA:1811
MONDO:0013697	MRT29	biolink:Disease	mondo	UMLS:C3280525|OMIM:614333		mental retardation, autosomal recessive 29; MRT29|intellectual disability, autosomal recessive 29; MRT29|MRT29|mental retardation, autosomal recessive 29|intellectual disability, autosomal recessive 29	http://purl.obolibrary.org/obo/MONDO_0013697		UMLS:C3280525|http://identifiers.org/omim/614333
CL:0000185	myoepithelial cell	biolink:Cell	mondo	FMA:67799|CALOHA:TS-2379|BTO:0002309		basket epithelial cell|myoepitheliocyte	http://purl.obolibrary.org/obo/CL_0000185	Contractile cells resembling smooth muscle cells that are present in glands, notably the mammary gland, and aid in secretion. This cell has long weaving dendritic processes containing myofilament.	
MONDO:0013698	arthrogryposis, distal, type 1B	biolink:Disease	mondo	DOID:0111598|OMIM:614335|UMLS:C3280526		arthrogryposis, distal, type 1B; DA1B|arthrogryposis, distal, type 1B|DA1B	http://purl.obolibrary.org/obo/MONDO_0013698		UMLS:C3280526|http://identifiers.org/omim/614335|DOID:0111598
MONDO:0011033	type 1 diabetes mellitus 13	biolink:Disease	mondo	OMIM:601318|ICD10:E10|UMLS:C1832474|MESH:C563352|DOID:0110752		insulin-dependent diabetes mellitus 13|IDDM13|diabetes mellitus, insulin-dependent, 13; IDDM13|diabetes mellitus, insulin-dependent, 13	http://purl.obolibrary.org/obo/MONDO_0011033	A type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 2q34.	http://identifiers.org/omim/601318|UMLS:C1832474|MESH:C563352|DOID:0110752
CL:0000186	myofibroblast cell	biolink:Cell	mondo			MFB	http://purl.obolibrary.org/obo/CL_0000186	An animal cell that has characteristics of both a fibroblast cell and a smooth muscle cell.	
CL:0000187	muscle cell	biolink:Cell	mondo	BTO:0000888|CALOHA:TS-2032|FMA:67328|WBbt:0003675|FBbt:00005074|BTO:0000902		muscle fiber|myocyte	http://purl.obolibrary.org/obo/CL_0000187	A mature contractile cell, commonly known as a myocyte. This cell has as part of its cytoplasm myofibrils organized in various patterns.	
MONDO:0013695	colorectal cancer, hereditary nonpolyposis, type 6	biolink:Disease	mondo	UMLS:C1860896|MESH:C566039|DOID:0070273|OMIM:614331		colon cancer, hereditary nonpolyposis, type 6|colorectal cancer, hereditary nonpolyposis, type 6; HNPCC6|colorectal cancer, hereditary nonpolyposis, type 6|TGFBR2 hereditary nonpolyposis colon cancer|hereditary nonpolyposis colon cancer caused by mutation in TGFBR2|HNPCC6	http://purl.obolibrary.org/obo/MONDO_0013695	Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the TGFBR2 gene.	http://identifiers.org/omim/614331|DOID:0070273|MESH:C566039|UMLS:C1860896
MONDO:0011036	porencephaly-cerebellar hypoplasia-internal malformations syndrome	biolink:Disease	mondo	UMLS:C1832472|OMIM:601322|GARD:0004437|MESH:C536336|SCTID:763821001|Orphanet:2941|ICD10:Q87.8	ordo_malformation_syndrome	porencephaly cerebellar hypoplasia internal malformations|Bonnemann-Meinecke syndrome|Bonnemann Meinecke syndrome|porencephaly, cerebellar hypoplasia, and internal malformations	http://purl.obolibrary.org/obo/MONDO_0011036	Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed.	http://identifiers.org/omim/601322|UMLS:C1832472|ORPHA:2941|MESH:C536336|SNOMEDCT:763821001
MONDO:0011035	neurofibromatosis-Noonan syndrome	biolink:Disease	mondo	GARD:0000372|MESH:C537393|DOID:0111683|ICD10:Q87.1|OMIM:601321|Orphanet:638|SCTID:715344006	ordo_malformation_syndrome|gard_rare	neurofibromatosis with Noonan phenotype|Noonan neurofibromatosis syndrome|NFNS|neurofibromatosis-Noonan syndrome; NFNS|neurofibromatosis type 1-Noonan syndrome|Noonan-neurofibromatosis syndrome|neurofibromatosis-Noonan syndrome	http://purl.obolibrary.org/obo/MONDO_0011035	Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafC)-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS).	UMLS:C2931482|http://identifiers.org/omim/601321|MESH:C537393|MESH:D009456|ORPHA:638|UMLS:C0553586|DOID:0111683|SNOMEDCT:715344006
MONDO:0013696	chromosome 2P16.3 deletion syndrome	biolink:Disease	mondo	UMLS:C3808494|OMIM:614332		chromosome 2P16.3 deletion syndrome|schizophrenia 17	http://purl.obolibrary.org/obo/MONDO_0013696		http://identifiers.org/omim/614332|UMLS:C3808494
MONDO:0011038	cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	biolink:Disease	mondo	MESH:C535351|OMIM:601338|GARD:0001188|SCTID:720634003|Orphanet:1171	ordo_disease	cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss|cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss; CAPOS|CAPOS|CAPOS syndrome|cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss|cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss	http://purl.obolibrary.org/obo/MONDO_0011038	Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.	http://identifiers.org/omim/601338|ORPHA:1171|SNOMEDCT:720634003|MESH:C535351
HGNC:14412	AGXT2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14412		
MONDO:0011037	renal dysplasia, cystic, susceptibility to	biolink:Disease	mondo	DOID:0111682|GARD:0004658|MESH:C537755|OMIM:601331	predisposition	renal dysplasia, cystic, susceptibility to; CYSRD|renal dysplasia, cystic, susceptibility to|CYSRD|diffuse cystic renal dysplasia|renal dysplasia diffuse cystic	http://purl.obolibrary.org/obo/MONDO_0011037		http://identifiers.org/omim/601331|MESH:C537755|DOID:0111682
MONDO:0013699	colorectal cancer, hereditary nonpolyposis, type 4	biolink:Disease	mondo	MESH:C563971|OMIM:614337|UMLS:C1838333|DOID:0070275		PMS2 hereditary nonpolyposis colon cancer|HNPCC4|hereditary nonpolyposis colon cancer caused by mutation in PMS2|colorectal cancer, hereditary nonpolyposis, type 4|colorectal cancer, hereditary nonpolyposis, type 4; HNPCC4	http://purl.obolibrary.org/obo/MONDO_0013699	Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the PMS2 gene.	MESH:C563971|DOID:0070275|http://identifiers.org/omim/614337|UMLS:C1838333
MONDO:0011039	atrophia maculosa varioliformis cutis, familial	biolink:Disease	mondo	OMIM:601341|UMLS:C1832465|MESH:C563349		AMVC|atrophia maculosa varioliformis cutis, familial|atrophia MACULOSA VARIOLIFORMIS cutis, familial; AMVC|varioliform macular atrophy of the skin	http://purl.obolibrary.org/obo/MONDO_0011039		MESH:C563349|http://identifiers.org/omim/601341|UMLS:C1832465
MONDO:0013690	Pitt-Hopkins-like syndrome 2	biolink:Disease	mondo	OMIM:614325|UMLS:C3280479|DOID:0111332		Pitt-Hopkins-like syndrome caused by mutation in NRXN1|Pitt-Hopkins-like syndrome 2|PTHSL2|NRXN1 Pitt-Hopkins-like syndrome|Pitt-Hopkins-like syndrome 2; PTHSL2|Pitt-Hopkins-like syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0013690	Any Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene.	DOID:0111332|UMLS:C3280479|http://identifiers.org/omim/614325
CL:0000181	obsolete metabolising cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000181	A cell whose primary function is intermediary metabolism.	
MONDO:0013693	inflammatory skin and bowel disease, neonatal, 1	biolink:Disease	mondo	UMLS:C3280501|OMIM:614328		neonatal inflammatory skin and bowel disease caused by mutation in ADAM17|inflammatory skin and bowel disease, neonatal, 1|inflammatory skin and bowel disease, neonatal, 1; NISBD1|NISBD1|ADAM17 neonatal inflammatory skin and bowel disease|inflammatory skin and bowel disease, neonatal, type 1	http://purl.obolibrary.org/obo/MONDO_0013693	Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the ADAM17 gene.	http://identifiers.org/omim/614328|UMLS:C3280501
MONDO:0011030	epithelial basolateral chloride conductance regulator, rabbit, homolog of	biolink:Disease	mondo	OMIM:601315		epithelial basolateral chloride conductance regulator, rabbit, homolog of|Ebcr	http://purl.obolibrary.org/obo/MONDO_0011030		http://identifiers.org/omim/601315
MONDO:0013694	MRT31	biolink:Disease	mondo	UMLS:C3280523|OMIM:614329		intellectual disability, autosomal recessive 31; MRT31|MRT31|intellectual disability, autosomal recessive 31|mental retardation, autosomal recessive 31|mental retardation, autosomal recessive 31; MRT31	http://purl.obolibrary.org/obo/MONDO_0013694		http://identifiers.org/omim/614329|UMLS:C3280523
CL:0000182	hepatocyte	biolink:Cell	mondo	BTO:0000575|FMA:14515|CALOHA:TS-0454			http://purl.obolibrary.org/obo/CL_0000182	The main structural component of the liver. They are specialized epithelial cells that are organized into interconnected plates called lobules. Majority of cell population of liver, polygonal in shape, arranged in plates or trabeculae between sinusoids; may have single nucleus or binucleated.	
MONDO:0013691	Feingold syndrome type 2	biolink:Disease	mondo	OMIM:614326|UMLS:C3280489|Orphanet:391646|ICD10:Q87.8	ordo_clinical_subtype	microcephaly-digital anomalies-normal intelligence syndrome type 2|Feingold syndrome 2; FGLDS2|FGLDS2|Feingold syndrome 2|brachydactyly with short stature and microcephaly|FS2|Feingold syndrome type 2|brachydactyly-short stature-microcephaly syndrome|Brunner-Winter syndrome type 2|MMT type 2|microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0013691	Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures.	http://identifiers.org/omim/614326|ORPHA:391646|UMLS:C3280489
MONDO:0011032	autosomal dominant nonsyndromic deafness 11	biolink:Disease	mondo	ICD10:H90.3|OMIM:601317|MESH:C563353|UMLS:C1832475|DOID:0110543		autosomal dominant deafness 11|deafness, autosomal dominant type 11|autosomal dominant nonsyndromic deafness type 11|autosomal dominant nonsyndromic deafness caused by mutation in MYO7A|MYO7A autosomal dominant nonsyndromic deafness|DFNA11|deafness, autosomal dominant 11; DFNA11|deafness, autosomal dominant 11	http://purl.obolibrary.org/obo/MONDO_0011032	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene.	http://identifiers.org/omim/601317|UMLS:C1832475|DOID:0110543|MESH:C563353
CL:0000183	contractile cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000183	A cell whose primary function is to shorten.	
MONDO:0011031	autosomal dominant nonsyndromic deafness 10	biolink:Disease	mondo	ICD10:H90.3|UMLS:C1832476|OMIM:601316|MESH:C563354|DOID:0110542		deafness, autosomal dominant 10; DFNA10|autosomal dominant deafness 10|deafness, autosomal dominant type 10|EYA4 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness type 10|autosomal dominant nonsyndromic deafness caused by mutation in EYA4|DFNA10|deafness, autosomal dominant 10	http://purl.obolibrary.org/obo/MONDO_0011031	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the EYA4 gene.	http://identifiers.org/omim/601316|UMLS:C1832476|DOID:0110542|MESH:C563354
MONDO:0013692	BAP1-related tumor predisposition syndrome	biolink:Disease	mondo	OMIM:614327|GARD:0013219|Orphanet:289539|UMLS:C3280492|SCTID:765057007	ordo_disease	TPDS|tumor susceptibility linked to germline BAP1 mutations|tumor predisposition syndrome; TPDS|BAP1 tumor predisposition syndrome|tumor predisposition syndrome	http://purl.obolibrary.org/obo/MONDO_0013692	BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape.	http://identifiers.org/omim/614327|ORPHA:289539|SNOMEDCT:765057007|UMLS:C3280492
MONDO:0023002	double discordia	biolink:Disease	mondo	GARD:0001905	gard_rare	corrected transposition|atrio-ventricular and ventriculo-arterial double Discordia	http://purl.obolibrary.org/obo/MONDO_0023002		
HGNC:26404	NADK2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26404		
MONDO:0023003	double fingernail of fifth finger	biolink:Disease	mondo	GARD:0001906	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023003		
MONDO:0023005	double uterus-hemivagina-renal agenesis	biolink:Disease	mondo	GARD:0001910	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023005		
MONDO:0025667	limbal stem cell deficiency	biolink:Disease	mondo	Orphanet:171673|UMLS:C1561989	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0025667		ORPHA:171673
MONDO:0023006	doxorubicin induced cardiomyopathy	biolink:Disease	mondo	GARD:0006285	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023006		
MONDO:0023007	drachtman weinblatt sitarz syndrome	biolink:Disease	mondo	GARD:0001913|UMLS:C2930947|MESH:C535603	gard_rare	drachtman weinblatt sitarz syndrome|marrow hypoplasia associated with congenital neurologic anomalies	http://purl.obolibrary.org/obo/MONDO_0023007		MESH:C535603|UMLS:C2930947
MONDO:0023008	obsolete drachtman weinblatt sitarz syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0023008		
MONDO:0011019	alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome	biolink:Disease	mondo	MESH:C563370|OMIM:601217|Orphanet:1014|SCTID:720981000	ordo_disease	alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism|alopecia-intellectual disability syndrome with convulsions and hypergonadotropic hypogonadism|Devriendt-Vandenberghe-Fryns syndrome	http://purl.obolibrary.org/obo/MONDO_0011019	This syndrome is characterized by the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism.	SNOMEDCT:720981000|MESH:C563370|http://identifiers.org/omim/601217|ORPHA:1014
HGNC:26401	MARVELD2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26401		
MONDO:0023000	dobrow syndrome	biolink:Disease	mondo	GARD:0001895	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023000		
MONDO:0013686	distal myopathy, Tateyama type	biolink:Disease	mondo	Orphanet:488650|UMLS:C3280443|DOID:0111191|SCTID:711265009|OMIM:614321	ordo_disease	myopathy, distal, Tateyama type; MPDT|MPDT|myopathy, distal, Tateyama type	http://purl.obolibrary.org/obo/MONDO_0013686	Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability.	UMLS:C3280443|http://identifiers.org/omim/614321|DOID:0111191|SNOMEDCT:711265009|ORPHA:488650
MONDO:0011023	hereditary mixed polyposis syndrome	biolink:Disease	mondo	DOID:0111684|ICD10:D12.6|MESH:C563365|UMLS:CN240759|Orphanet:157794	ordo_disease	HMPS	http://purl.obolibrary.org/obo/MONDO_0011023	Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated.	ORPHA:157794|DOID:0111684|MESH:C563365|UMLS:CN240759
MONDO:0011022	Potocki-Shaffer syndrome	biolink:Disease	mondo	DOID:0111687|ICD10:Q93.5|SCTID:702346005|NCIT:C75456|Orphanet:52022|OMIM:601224|GARD:0009762|ICD9:758.39|UMLS:C1832588|MESH:C538356	ordo_malformation_syndrome	PSS|Defect11 syndrome|chromosome 11P11.2 deletion syndrome|proximal 11P deletion syndrome|deletion of chromosome 11p11.2|proximal 11p deletion syndrome|11p11.2 deletion|Potocki-Shaffer syndrome	http://purl.obolibrary.org/obo/MONDO_0011022	Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).	ORPHA:52022|SNOMEDCT:702346005|http://identifiers.org/omim/601224|MESH:C538356|UMLS:C1832588|NCIT:C75456|DOID:0111687
CL:0000197	sensory receptor cell	biolink:Cell	mondo			receptor cell	http://purl.obolibrary.org/obo/CL_0000197	A cell that is capable of detection of a stimulus involved in sensory perception.	
MONDO:0013687	autosomal recessive spinocerebellar ataxia 12	biolink:Disease	mondo	Orphanet:284282|DOID:0080060|UMLS:C3280452|ICD10:G11.1|OMIM:614322	ordo_disease	WWOX autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome|autosomal recessive spinocerebellar ataxia type 12|spinocerebellar ataxia, autosomal recessive 12|autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to WWOX deficiency|WWOX autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome|spinocerebellar ataxia, autosomal recessive 12; SCAR12|autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in WWOX|autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in WWOX|spinocerebellar ataxia with mental retardation and epilepsy|SCAR12|spinocerebellar ataxia with intellectual disability and epilepsy|spinocerebellar ataxia, autosomal recessive type 12	http://purl.obolibrary.org/obo/MONDO_0013687	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.	UMLS:C3280452|http://identifiers.org/omim/614322|DOID:0080060|ORPHA:284282
MONDO:0013684	VUR6	biolink:Disease	mondo	OMIM:614319|UMLS:C3280441		vesicoureteral reflux 6; VUR6|VUR6|vesicoureteral reflux 6	http://purl.obolibrary.org/obo/MONDO_0013684		UMLS:C3280441|http://identifiers.org/omim/614319
MONDO:0011025	Cayman type cerebellar ataxia	biolink:Disease	mondo	Orphanet:94122|OMIM:601238|UMLS:C1832585|MESH:C563363|SCTID:717332007|ICD10:G11.0|DOID:0060694	ordo_disease	cerebellar ataxia, CAYMAN type; ATCAY|Cayman cerebellar ataxia|ATCAY|Cayman ataxia|cerebellar ataxia, Cayman type	http://purl.obolibrary.org/obo/MONDO_0011025	Cerebellar ataxia, Cayman type is characterised by psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia.	MESH:C563363|SNOMEDCT:717332007|ORPHA:94122|DOID:0060694|http://identifiers.org/omim/601238|UMLS:C1832585
MONDO:0013685	pancreatic cancer, susceptibility to, 4	biolink:Disease	mondo	OMIM:614320	predisposition	PNCA4|pancreatic cancer, susceptibility to, type 4|BRCA1 familial pancreatic carcinoma|pancreatic cancer, susceptibility to, 4; PNCA4|familial pancreatic carcinoma caused by mutation in BRCA1|susceptibility to pancreatic cancer 4|pancreatic cancer, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0013685	Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA1 gene.	http://identifiers.org/omim/614320
MONDO:0011024	dermatitis herpetiformis, familial	biolink:Disease	mondo	GARD:0001917|UMLS:C1832586|OMIM:601230|MESH:C538218	gard_rare	hereditary dermatitis herpetiformis|dermatitis herpetiformis, familial|DH|Brocq-Duhring disease|Duhring Brocq disease|Duhring's disease	http://purl.obolibrary.org/obo/MONDO_0011024	Dermatitis herpetiformis is a rare, chronic, skin disorder characterized by groups of severely itchy blisters and raised skin lesions. These are more common on the knees, elbows, buttocks and shoulder blades. The slow onset of symptoms usually begins during adulthood, but children can also be affected. Other symptoms mayinclude fluid-filled sores; red lesions that resemble hives; and itchiness, rednessand burning. The exact cause of this disease is not known,but it is frequently associated with the inability to digest gluten. People with this disease are typically treated with the drug dapsone.	http://identifiers.org/omim/601230|MESH:C538218|UMLS:C1832586
MONDO:0011027	diabetes mellitus, noninsulin-dependent, 1	biolink:Disease	mondo	OMIM:601283|MESH:C563359|UMLS:C1832544		diabetes mellitus, noninsulin-dependent, 1|diabetes mellitus, noninsulin-dependent, type 1|diabetes mellitus, noninsulin-dependent, 1; NIDDM1|NIDDM1|noninsulin-dependent diabetes mellitus 1	http://purl.obolibrary.org/obo/MONDO_0011027		MESH:C563359|http://identifiers.org/omim/601283|UMLS:C1832544
MONDO:0011026	autosomal recessive congenital ichthyosis 4A	biolink:Disease	mondo	GARD:0009733|MESH:C537264|OMIM:601277|DOID:0060712|ICD10:Q80.2		autosomal recessive congenital ichthyosis type 4A|ICR2B|LI2|ichthyosis lamellar 2|ichthyosis congenita IIB|ichthyosis, congenital, autosomal recessive type 4A|lamellar ichthyosis, type 2|ichthyosis, lamellar, 2, formerly|ichthyosis, congenital, autosomal recessive 4A|lamellar ichthyosis 2|ichthyosis, lamellar, 2|ichthyosis, congenital, autosomal recessive 4A; ARCI4A|ichthyosis congenita 2B|ARCI4A	http://purl.obolibrary.org/obo/MONDO_0011026	Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene.	DOID:0060712|http://identifiers.org/omim/601277|MESH:C537264
MONDO:0013688	linear and whorled nevoid hypermelanosis	biolink:Disease	mondo	NCIT:C3924|ICD10:L81.4|UMLS:C1304501|OMIM:614323|GARD:0011004|Orphanet:79150|UMLS:C0263579|SCTID:403803002	ordo_disease|gard_rare	nevoid hypermelanosis, linear and whorled|zebra-like hyperpigmentation|melanosis Neviformis|LWNH|linear papular ectodermal-mesodermal hamartoma|zosteriform lentiginous nevus|reticulate hyperpigmentation of Iijima|linear and whorled hypermelanosis|Becker Nevus|zosteriform hyperpigmentation|pigmented hairy Epidermal Nevus|nevoid hypermelanosis, linear and whorled; LWNH|Becker's Nevus|pigmented hairy Nevus of Becker|progressive cribriform and zosteriform hyperpigmentation|hyperpigmentation, progressive cribriform and zosteriform	http://purl.obolibrary.org/obo/MONDO_0013688	Linear and whorled nevoid hypermelanosis (LWNH) is a rare skin condition characterized by swirling streaks of hyperpigmented (darkened) skin. The pigmentation follows the lines of Blashko and is mainly located on the trunk and limbs. It is present at birth or appears in the first few weeks of life. It typically progresses for one to two years and then stabilizes. Hyperpigmentation is usually the only symptom but there are isolated reports of other symptoms, involving mostly the central nervous system, musculoskeletal system, and heart. While most cases of LWNH are sporadic, apparent genetic transmission rarely has been described. A few people with LWNH have been diagnosed with chromosomal mosaicism.	http://identifiers.org/omim/614323|UMLS:C1304501|NCIT:C3924|SNOMEDCT:403803002|ORPHA:79150|UMLS:C0263579
MONDO:0011029	myeloid tumor suppressor	biolink:Disease	mondo	OMIM:601308		myeloid tumor suppressor|myeloid leukemia-related locus	http://purl.obolibrary.org/obo/MONDO_0011029		http://identifiers.org/omim/601308
MONDO:0011028	autosomal recessive limb-girdle muscular dystrophy type 2F	biolink:Disease	mondo	SCTID:718177001|Orphanet:219|OMIM:601287|GARD:0008573|DOID:0110280|ICD10:G71.0|MESH:C535896	gard_rare|ordo_disease	SGCD autosomal recessive limb-girdle muscular dystrophy|limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency|LGMD2F|autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCD|muscular dystrophy, limb-girdle, type 2F; LGMD2F|delta-sarcoglycanopathy|limb-girdle muscular dystrophy type 2F|muscular dystrophy limb-girdle with delta-sarcoglyan deficiency|muscular dystrophy, limb-girdle, type 2F	http://purl.obolibrary.org/obo/MONDO_0011028	Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.	SNOMEDCT:718177001|MESH:C535896|http://identifiers.org/omim/601287|ORPHA:219|DOID:0110280
MONDO:0013689	ovarian dysgenesis 3	biolink:Disease	mondo	UMLS:C3280471|OMIM:614324|DOID:0080495		ovarian dysgenesis 3|ODG3|PSMC3IP 46 XX gonadal dysgenesis|ovarian dysgenesis type 3|46 XX gonadal dysgenesis caused by mutation in PSMC3IP|ovarian dysgenesis 3; ODG3	http://purl.obolibrary.org/obo/MONDO_0013689	Any 46 XX gonadal dysgenesis in which the cause of the disease is a mutation in the PSMC3IP gene.	UMLS:C3280471|http://identifiers.org/omim/614324|DOID:0080495
CL:0000192	smooth muscle cell	biolink:Cell	mondo	FMA:14072|BTO:0004576|CALOHA:TS-2159		non-striated muscle cell|smooth muscle fiber|SMCs|myocytes, smooth muscle	http://purl.obolibrary.org/obo/CL_0000192	A non-striated, elongated, spindle-shaped cell found lining the digestive tract, uterus, and blood vessels. They develop from specialized myoblasts (smooth muscle myoblast).	
MONDO:0013682	VUR4	biolink:Disease	mondo	UMLS:C3280439|OMIM:614317		vesicoureteral reflux 4; VUR4|VUR4|vesicoureteral reflux 4	http://purl.obolibrary.org/obo/MONDO_0013682		http://identifiers.org/omim/614317|UMLS:C3280439
ECTO:9000156	water exposure	biolink:OntologyClass	mondo			exposure to water	http://purl.obolibrary.org/obo/ECTO_9000156	An exposure to water.	
MONDO:0013683	VUR5	biolink:Disease	mondo	OMIM:614318|UMLS:C3280440		vesicoureteral reflux 5; VUR5|VUR5|vesicoureteral reflux 5	http://purl.obolibrary.org/obo/MONDO_0013683		http://identifiers.org/omim/614318|UMLS:C3280440
MONDO:0011021	neuronal intestinal dysplasia, type b	biolink:Disease	mondo	UMLS:C1832589|OMIM:601223		nid B|neuronal intestinal dysplasia, type b	http://purl.obolibrary.org/obo/MONDO_0011021		http://identifiers.org/omim/601223|UMLS:C1832589
MONDO:0013680	cognitive impairment with or without cerebellar ataxia	biolink:Disease	mondo	UMLS:C3280415|OMIM:614306		cognitive impairment with or without cerebellar ataxia|cognitive impairment with or without cerebellar ataxia; CIAT|CIAT	http://purl.obolibrary.org/obo/MONDO_0013680		http://identifiers.org/omim/614306|UMLS:C3280415
MONDO:0011020	osteoporosis-oculocutaneous hypopigmentation syndrome	biolink:Disease	mondo	UMLS:C1832592|SCTID:722113001|GARD:0000404|MESH:C536062|OMIM:601220|Orphanet:2786	ordo_malformation_syndrome|gard_rare	osteoporosis oculocutaneous hypopigmentation syndrome|OOCH|osteoporosis and oculocutaneous hypopigmentation syndrome|osteoporosis and oculocutaneous hypopigmentation syndrome; OOCH|OOCH syndrome|Hernández-Fragoso syndrome|OOCHS	http://purl.obolibrary.org/obo/MONDO_0011020	Osteoporosis-oculocutaneous hypopigmentation syndrome is characterised by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive.	http://identifiers.org/omim/601220|SNOMEDCT:722113001|UMLS:C1832592|ORPHA:2786|MESH:C536062
MONDO:0013681	alpha-methylacyl-CoA racemase deficiency	biolink:Disease	mondo	SCTID:700463002|MESH:C565768|DOID:0060602|NCIT:C119677|EFO:1001980|OMIM:614307|UMLS:C3280428		ALPHA-methylacyl-CoA racemase deficiency; AMACRD|AMACR|alpha-methylacyl-CoA racemase deficiency|AMACR deficiency|AMACRD|Amacr deficiency	http://purl.obolibrary.org/obo/MONDO_0013681	A rare disorder caused by mutation in the AMACR gene. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy.	http://identifiers.org/omim/614307|NCIT:C119677|SNOMEDCT:700463002|MESH:C565768|DOID:0060602|UMLS:C3280428
MONDO:0023079	epidermal nevus vitamin D resistant rickets	biolink:Disease	mondo	GARD:0002136	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023079		
GO:0052803	imidazole-containing compound metabolic process	biolink:OntologyClass	mondo			imidazole metabolism	http://purl.obolibrary.org/obo/GO_0052803	The chemical reactions and pathways involving imidazoles, five-membered organic heterocycle containing two nitrogen atoms at positions 1 and 3, or any of its derivatives; compounds containing an imidazole skeleton.	
MONDO:0011090	isolated hereditary congenital facial paralysis	biolink:Disease	mondo	MESH:C563309|OMIMPS:601471|ICD10:Q87.0|GARD:0008583|SCTID:733091002|Orphanet:306527|UMLS:C4518577	gard_rare|ordo_morphological_anomaly	HCFP|Moebius syndrome 2 (formerly)|Mobius syndrome 2 (formerly)|facial paresis, hereditary congenital|facial paresis hereditary congenital|MBS2 (formerly)|facial palsy, congenital, unilateral or bilateral|hereditary congenital facial paresis	http://purl.obolibrary.org/obo/MONDO_0011090	Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal.	MESH:C563309|SNOMEDCT:733091002|UMLS:C4518577|ORPHA:306527
MONDO:0023070		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0023070		
MONDO:0023071	enterovirus antenatal infection	biolink:Disease	mondo	GARD:0002130	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023071		
MONDO:0023072	obsolete envenomization by Bothrops lanceolatus	biolink:Disease	mondo	Orphanet:1939|GARD:0002131	gard_rare	Envenomization by the Martinique lancehead viper	http://purl.obolibrary.org/obo/MONDO_0023072		ORPHA:1939
MONDO:0023073	eosinophilic cryptitis	biolink:Disease	mondo	GARD:0006347|GARD:0006346|UMLS:C0742965|SCTID:445918001|ICD9:595.89	gard_rare	eosinophilic cystitis	http://purl.obolibrary.org/obo/MONDO_0023073	Eosinophilic cystitis (EC) is a rare inflammatory bladder condition caused by the build up of eosinophils in the bladder. The exact cause of this condition is not known. However, EC has been found in those with allergies and asthma, and in those with a history of bladder trauma or infection, open bladder surgery, or surgery for a bladder tumor. EC has also been found in those who take certain medications.	SNOMEDCT:445918001|UMLS:C0742965
MONDO:0023076	eosinophilic pustular folliculitis	biolink:Disease	mondo	UMLS:C0406305|MESH:C535953|GARD:0008534|ICD9:704.8|SCTID:95333004	gard_rare	EPF|eosinophilic folliculitis, pustular|Ofuji disease|eosinophilic folliculitis|Ofuji's disease	http://purl.obolibrary.org/obo/MONDO_0023076	Eosinophilic pustular folliculitis (EPF) is a skin disorder characterized by recurring itchy, red or skin-colored bumps and pustules (bumps containing pus). The condition is named after the fact that skin biopsies of this disorder find eosinophils (a type of immune cell) around hair follicles. The papules mostly appear on the face, scalp, neck and trunk and may persist for weeks or months. EPF affects males more than females.There are several variants of EPF includingclassic eosinophilic pustular folliculitis (mainly occurring in adults in Japan); HIV-associated EPF, also referred to as immunosuppression-associated EPF; and infantile EPF (with onset from birth or within the first year of life). Whether these are distinct disorders rather than variants of one disorder is controversial, partly because the underlying cause of EFP is not known.Several treatments have been described with variable results, including various oral or topical medications and phototherapy. In patients with HIV-associated disease, antiretroviral therapy tends to greatly diminish symptoms or even eliminate the condition.	MESH:C535953|SNOMEDCT:95333004|UMLS:C0406305
CL:0000163	endocrine cell	biolink:Cell	mondo	FMA:83809		endocrinocyte	http://purl.obolibrary.org/obo/CL_0000163	A cell of an endocrine gland, ductless glands that secrete substances which are released directly into the circulation and which influence metabolism and other body functions.	
MONDO:0011099	human HOXA1 syndromes	biolink:Disease	mondo	SCTID:720518006|DOID:0050682|Orphanet:69739|OMIM:601536|UMLS:C1832215|GARD:0008333	ordo_disease	Human HOXA1 syndromes|Athabaskan brainstem dysgenesis syndrome; ABDS|Athabaskan brainstem dysgenesis|ABDS|Athabaskan brainstem dysgenesis syndrome|Navajo brainstem syndrome|Athabascan brainstem dysgenesis syndrome|Bosley Salih Alorainy syndrome|BSAS|ABSD|Bosley-Salih-Alorainy syndrome	http://purl.obolibrary.org/obo/MONDO_0011099	Human HOXA1 syndromes is characterised by deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive.	ORPHA:69739|DOID:0050682|MESH:C535397|SNOMEDCT:720518006|http://identifiers.org/omim/601536|UMLS:C1832215
CL:0000164	enteroendocrine cell	biolink:Cell	mondo	FMA:62930|BTO:0003865			http://purl.obolibrary.org/obo/CL_0000164	An endocrine cell that is located in the epithelium of the gastrointestinal tract or in the pancreas.	
CL:0000165	neuroendocrine cell	biolink:Cell	mondo	BTO:0002691|FMA:83810		neurosecretory cell	http://purl.obolibrary.org/obo/CL_0000165	An endocrine cell that has the specialized function to produce and secrete hormones in response to neuronal signals.	
CL:0000166	chromaffin cell	biolink:Cell	mondo	FMA:69263|BTO:0000259		phaeochromocyte	http://purl.obolibrary.org/obo/CL_0000166	A cell that stores epinephrine secretory vesicles. During times of stress, the nervous system signals the vesicles to secrete their hormonal content. Their name derives from their ability to stain a brownish color with chromic salts. Characteristically, they are located in the adrenal medulla and paraganglia of the sympathetic nervous system.	
CL:0000167	peptide hormone secreting cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000167		
UBERON:0022292	splenic arteriole	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0022292		
CL:0000168	insulin secreting cell	biolink:Cell	mondo	BTO:0000783			http://purl.obolibrary.org/obo/CL_0000168		
CL:0000169	type B pancreatic cell	biolink:Cell	mondo	EV:0200009|ncithesaurus:Beta_Cell|FMA:70586|BTO:0000783|MA:0002419		pancreatic beta cell|pancreatic B-cell|beta cell islet|insulin-secreting cell|pancreatic B cell|beta cell of pancreatic islet|type B enteroendocrine cell|pancreatic islet core|B-cell of pancreatic islet|beta cell	http://purl.obolibrary.org/obo/CL_0000169	A cell that secretes insulin and is located towards the center of the islets of Langerhans.	
UBERON:0022293	reproductive gland secretion	biolink:AnatomicalEntity	mondo			reproductive system fluid/secretion|genital fluid|genital secretion|reproductive system fluid|reproductive system secretion	http://purl.obolibrary.org/obo/UBERON_0022293	A portion of organism substance that is secreted by a reproductive gland.	
MONDO:0011092	ribbing disease	biolink:Disease	mondo	GARD:0008494|UMLS:C1832273|MESH:C537613|OMIM:601477	gard_rare	multiple diaphyseal sclerosis|hereditary multiple diaphyseal sclerosis|diaphyseal sclerosis, multiple|ribbing disease	http://purl.obolibrary.org/obo/MONDO_0011092	Ribbing disease is a rare bone disease that causes bony growths on the long bones, such as the thigh bone and shine bone.Ribbing diseaseaffects women more frequently than men. The most common symptom is pain. A single studyof 14 patients found an association between Ribbing disease and impaired exercise tolerance and changes in heart function (i.e., increased prevalence of arrhythmia and changes in left ventricular systolic and diastolic function).The cause of the condition iscurrently unknown, although some cases appear to be genetic and inherited in an autosomal recessive fashion.Optimal treatment for the disease is largely unknown. There have been case reports describingtreatment of Ribbing diseasewith bisphosphonate pamidronate. Results have been mixed. The conditionoften resolves on its own; howevercases of progressive disease have been described.	http://identifiers.org/omim/601477|UMLS:C1832273|MESH:C537613
UBERON:0022296	inferior palpebral branch of infra-orbital nerve	biolink:AnatomicalEntity	mondo			rami palpebrales inferiores nervi infraorbitalis	http://purl.obolibrary.org/obo/UBERON_0022296	A nerve that innervates a lower eyelid and is a branch of the infra-orbital branch of the maxillary nerve.	
MONDO:0011091	Charcot-Marie-Tooth disease type 2D	biolink:Disease	mondo	NCIT:C122659|UMLS:C1832274|MESH:C537993|GARD:0001251|ICD10:G60.0|DOID:0110164|OMIM:601472|SCTID:717011006|UMLS:C4274109|Orphanet:99938	gard_rare|ordo_disease	Charcot-Marie-Tooth disease, axonal, type 2D; CMT2D|Charcot-Marie-Tooth disease, neuronal, type 2D|CMT2D|autosomal dominant Charcot-Marie-Tooth disease type 2D|GARS Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease neuronal type 2D|Charcot Marie Tooth disease type 2D|CMT 2D|Charcot-Marie-Tooth neuropathy, type 2D|Charcot-Marie-Tooth disease, axonal, type 2D|Charcot-Marie-Tooth neuropathy type 2D|Charcot-Marie-Tooth disease type 2 caused by mutation in GARS	http://purl.obolibrary.org/obo/MONDO_0011091	Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.	UMLS:C4274109|SNOMEDCT:717011006|http://identifiers.org/omim/601472|UMLS:C1832274|NCIT:C122659|ORPHA:99938|MESH:C537993|DOID:0110164
UBERON:0022298	lower eyelid nerve	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0022298	A nerve that innervates a lower eyelid.	
MONDO:0011094	dilated cardiomyopathy 1C	biolink:Disease	mondo	DOID:0110423|OMIM:601493|ICD10:I42.0|MESH:C563307|NCIT:C170436		CMD1C|cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction; CMD1C|left ventricular noncompaction 3|dilated cardiomyopathy type 1C|cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction|CMDC1|cardiomyopathy, familial hypertrophic, 24|dilated cardiomyopathy 1C with or without left ventricular noncompaction	http://purl.obolibrary.org/obo/MONDO_0011094	A dilated cardiomyopathy that has material basis in mutation in the LDB3 gene on chromosome 10q23.2.	DOID:0110423|MESH:C563307|NCIT:C170436|http://identifiers.org/omim/601493
MONDO:0011093	mucopolysaccharidosis type 9	biolink:Disease	mondo	DOID:0050809|OMIM:601492|ICD9:277.6|MESH:C563209|UMLS:C1291490|SCTID:124473006|NCIT:C129073|ICD10:E76.2|Orphanet:67041	ordo_disease	mucopolysaccharidosis, type 9|mucopolysaccharidosis, type IX; MPS9|MPS 9|mucopolysaccharidosis type 9|hyaluronidase deficiency|mucopolysaccharidosis IX|mucopolysaccharidosis, type IX|MPS9|mucopolysaccharidosis type IX|MPSIX	http://purl.obolibrary.org/obo/MONDO_0011093	An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency.	MESH:C563209|SNOMEDCT:124473006|UMLS:C1291490|http://identifiers.org/omim/601492|NCIT:C129073|ORPHA:67041|DOID:0050809
UBERON:0022297	palpebral branch of infra-orbital nerve	biolink:AnatomicalEntity	mondo			palpebral branch of maxillary nerve	http://purl.obolibrary.org/obo/UBERON_0022297	A nerve that innervates an eyelid and is a branch of the infra-orbital branch of the maxillary nerve.	
MONDO:0011096	autosomal agammaglobulinemia	biolink:Disease	mondo	ICD10:D80.0|UMLS:C1832241|GARD:0009640|MESH:C538056|Orphanet:33110	ordo_clinical_subtype	agammaglobulinemia, autosomal recessive, due to IGHM defect|AGM|agammaglobulinemia, non-Bruton type	http://purl.obolibrary.org/obo/MONDO_0011096	Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.	ORPHA:33110|MESH:C538056|UMLS:C1832241
MONDO:0011095	dilated cardiomyopathy 1D	biolink:Disease	mondo	OMIM:601494|DOID:0110426|ICD10:I42.0|UMLS:C1832243|MESH:C563306		familial isolated dilated cardiomyopathy caused by mutation in TNNT2|TNNT2 familial isolated dilated cardiomyopathy|CMD1D|cardiomyopathy, dilated, 1D|left ventricular noncompaction 6|dilated cardiomyopathy type 1D|cardiomyopathy, dilated, 1D; CMD1D|cardiomyopathy, dilated, type 1D	http://purl.obolibrary.org/obo/MONDO_0011095	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.	DOID:0110426|MESH:C563306|http://identifiers.org/omim/601494|UMLS:C1832243
CL:0000160	goblet cell	biolink:Cell	mondo	http://en.wikipedia.org/wiki/Goblet_cell|BTO:0001540|FMA:13148		chalice cell	http://purl.obolibrary.org/obo/CL_0000160	A cell of the epithelial lining that produce and secrete mucins.	
UBERON:0022299	upper eyelid nerve	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0022299	A nerve that innervates an upper eyelid.	
MONDO:0011098	prostate cancer, hereditary, 1	biolink:Disease	mondo	OMIM:601518		prostate cancer, hereditary, 1; HPC1|HPC1|prostate cancer, hereditary, 1|RNASEL familial prostate cancer|familial prostate cancer caused by mutation in RNASEL|Prca1|prostate cancer, hereditary, type 1	http://purl.obolibrary.org/obo/MONDO_0011098	Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene.	http://identifiers.org/omim/601518
MONDO:0011097	Axenfeld-Rieger syndrome type 2	biolink:Disease	mondo	UMLS:C1832229|OMIM:601499|MESH:C535680|DOID:0110121|ICD10:Q13.8		Axenfeld-Rieger syndrome, type 2|Rieger syndrome type 2|Axenfeld-Rieger syndrome, type 2; RIEG2|RIEG2|Rieger syndrome, type 2	http://purl.obolibrary.org/obo/MONDO_0011097	An Axenfeld-Rieger syndrome that has material basis in deletions in the region 13q14.	DOID:0110121|MESH:C535680|http://identifiers.org/omim/601499|UMLS:C1832229
MONDO:0023067	endemic Kaposi sarcoma	biolink:Disease	mondo	GARD:0010431	gard_rare	African/endemic Kaposi sarcoma|African Kaposi sarcoma	http://purl.obolibrary.org/obo/MONDO_0023067		
MONDO:0023068	engelhard yatziv syndrome	biolink:Disease	mondo	GARD:0002124	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023068		
MONDO:0023069	enlarged vestibular aqueduct syndrome	biolink:Disease	mondo	DOID:0050332|GARD:0008651	gard_rare	enlarged vestibular aqueduct|large vestibular aqueduct syndrome	http://purl.obolibrary.org/obo/MONDO_0023069		DOID:0050332
MONDO:0023061	enamel hypoplasia cataract hydrocephaly	biolink:Disease	mondo	GARD:0002106	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023061		
MONDO:0023062	encephalocele anencephaly	biolink:Disease	mondo	GARD:0002109	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023062		
MONDO:0023065	obsolete encephalopathy recurrent of childhood	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0023065		
MONDO:0023066	enchondromatosis dwarfism deafness	biolink:Disease	mondo	GARD:0000294	gard_rare	Wallis cremin Beighton syndrome	http://purl.obolibrary.org/obo/MONDO_0023066		
CL:0000174	steroid hormone secreting cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000174		
MONDO:0011089	patent ductus venosus	biolink:Disease	mondo	ICD9:747.49|OMIM:601466|GARD:0010483|SCTID:253330006|MESH:C562830	gard_rare	patent ductus venosus|portosystemic Venous shunt, congenital|patent ductus venosus; PDV|PDV|PSVS	http://purl.obolibrary.org/obo/MONDO_0011089		SNOMEDCT:253330006|MESH:C562830|http://identifiers.org/omim/601466
MONDO:0011088	congenital myasthenic syndrome 1A	biolink:Disease	mondo	DOID:0110663|OMIM:601462		CMS2A|CMS1A|myasthenic syndrome, congenital, type IIa, formerly|myasthenic syndrome, congenital, type IIa|congenital myasthenic syndrome type IIa|congenital myasthenic syndrome 1A, slow-channel|myasthenic syndrome, congenital, 1A, slow-channel; CMS1A|CMS IIa|CHRNA1 congenital myasthenic syndrome|CMS1A|myasthenic syndrome, congenital, 1A, slow-channel|Cms IIa, formerly|congenital myasthenic syndrome caused by mutation in CHRNA1|Cms IIa|congenital myasthenic syndrome type 1A	http://purl.obolibrary.org/obo/MONDO_0011088	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNA1 gene.	DOID:0110663|http://identifiers.org/omim/601462
CL:0000177	testosterone secreting cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000177		
CL:0000178	Leydig cell	biolink:Cell	mondo	BTO:0000755|CALOHA:TS-1150|FMA:72297|EMAPA:29655		interstitial cell|interstitial cell of Leydig	http://purl.obolibrary.org/obo/CL_0000178	A Leydig cell is a testosterone-secreting cell in the interstitial area, between the seminiferous tubules, in the testis.	
MONDO:0011081	dislocation of the hip-dysmorphism syndrome	biolink:Disease	mondo	Orphanet:2412|UMLS:C1832353|SCTID:763755009|MESH:C563315|GARD:0001428|ICD10:Q87.2|OMIM:601450	ordo_malformation_syndrome|gard_rare	Collins-Pope syndrome|dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism|Collins Pope syndrome|hip, congenital dislocation of, with hyperextensibility of fingers and Facial Dysmorphism|dislocation of the hip dysmorphism	http://purl.obolibrary.org/obo/MONDO_0011081	Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995.	SNOMEDCT:763755009|MESH:C563315|http://identifiers.org/omim/601450|ORPHA:2412|UMLS:C1832353
MONDO:0011080	progressive deafness with stapes fixation	biolink:Disease	mondo	ICD10:H74.3|OMIM:601449|SCTID:715529009|MESH:C563316|Orphanet:3235|UMLS:C1832354|GARD:0005170	gard_rare|ordo_malformation_syndrome	Thies Reis syndrome|Stapedo-vestibular ankylosis|deafness, progressive, with stapes fixation|Thies-Reis syndrome	http://purl.obolibrary.org/obo/MONDO_0011080	Stapes fixation (stapedovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease).	MESH:C563316|ORPHA:3235|http://identifiers.org/omim/601449|SNOMEDCT:715529009|UMLS:C1832354|UMLS:C1844678
MONDO:0011083	trichodental syndrome	biolink:Disease	mondo	MESH:C536551|GARD:0000265|UMLS:C0406724|SCTID:277810000|Orphanet:3351|OMIM:601453	gard_rare|ordo_malformation_syndrome	TRICHODENTAL dysplasia|Tricho-dental dysplasia|Tricho-dental syndrome|kersey syndrome	http://purl.obolibrary.org/obo/MONDO_0011083	Trichodental syndrome is characterised by the association of fine, dry and short hair with dental anomalies. It has been described in less than 10 families. The mode of transmission is autosomal dominant.	MESH:C536551|SNOMEDCT:277810000|ORPHA:3351|http://identifiers.org/omim/601453|UMLS:C0406724
MONDO:0011082	oculoauriculofrontonasal syndrome	biolink:Disease	mondo	MESH:C537865|Orphanet:398156|UMLS:C1832352|ICD10:Q87.0|GARD:0004031|OMIM:601452	ordo_malformation_syndrome|gard_rare	OCULOAURICULOFRONTONASAL syndrome; OAFNS|oculoauriculofrontonasal syndrome|OAFNS|oculoauriculofrontonasal dysplasia	http://purl.obolibrary.org/obo/MONDO_0011082		ORPHA:398156|http://identifiers.org/omim/601452|UMLS:C1832352|MESH:C537865
MONDO:0011085	Charcot-Marie-Tooth disease type 4D	biolink:Disease	mondo	GARD:0003973|SCTID:715798007|OMIM:601455|MESH:C535716|DOID:0110186|UMLS:C1832334|ICD10:G60.0|Orphanet:99950	ordo_disease|gard_rare	hereditary motor ABD sensory neuropathy Lom type|NDRG1 Charcot-Marie-Tooth disease type 4|neuropathy, hereditary motor and sensory, Lom type|Charcot-Marie-Tooth neuropathy type 4D|Charcot-Marie-Tooth neuropathy, type 4D|hereditary motor and sensory neuropathy, Lom type|HMSN4D|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4D|autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D|Charcot-Marie-Tooth disease, type 4D|CMT4D|HMSN Lom type|Charcot-Marie-Tooth disease type 4 caused by mutation in NDRG1|HMSN, Lom type|HMSN4D|HMSN-Lom|NMSL|Charcot-Marie-Tooth disease, type 4D; CMT4D|HMSNL	http://purl.obolibrary.org/obo/MONDO_0011085	Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported.	ORPHA:99950|DOID:0110186|MESH:C535716|http://identifiers.org/omim/601455|UMLS:C1832334|SNOMEDCT:715798007
MONDO:0011084	PSORS3	biolink:Disease	mondo	OMIM:601454|DOID:0111283		psoriasis 3, susceptibility to|psoriasis 3, susceptibility to; PSORS3|PSORS3	http://purl.obolibrary.org/obo/MONDO_0011084		DOID:0111283|http://identifiers.org/omim/601454
MONDO:0011087	inflammatory bowel disease 2	biolink:Disease	mondo	UMLS:C1832321|MESH:C563310|DOID:0110900|OMIM:601458		IBD2|inflammatory bowel disease 2|inflammatory bowel disease 2; IBD2|inflammatory bowel disease type 2	http://purl.obolibrary.org/obo/MONDO_0011087	An inflammatory bowel disease that has material basis in variation in the chromosome region 12p13.2-q24.1.	MESH:C563310|DOID:0110900|http://identifiers.org/omim/601458|UMLS:C1832321
CL:0000172	somatostatin secreting cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000172		
CL:0000173	pancreatic D cell	biolink:Cell	mondo	FMA:70587|BTO:0000803		delta cell of islet|D-cell of pancreatic islet|delta cell of pancreatic islet|pancreatic D-cell|somatostatin-secreting pancreatic cell|pancreatic delta cell	http://purl.obolibrary.org/obo/CL_0000173	A D cell located in the pancreas. Peripherally placed within the islets like type A cells; contains somatostatin.	
MONDO:0011086	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	biolink:Disease	mondo	DOID:0090013|MESH:C563311|Orphanet:331206|OMIM:601457|UMLS:C1832322|ICD10:D81.1|GARD:0010339	ordo_disease	severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive|severe combined immunodeficiency due to complete RAG1-2 deficiency|severe combined immunodeficiency due to complete RAG1/2 deficiency|SCID, AR, T-cell negative, B-cell negative, NK cell-positive|SCID, T cell-negative, B cell-negative, NK cell-positive|severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|SCID due to complete RAG1-2 deficiency|SCID due to complete RAG1/2 deficiency	http://purl.obolibrary.org/obo/MONDO_0011086	Severe combined immunodeficiency due to complete RAG1/2 deficiency is a rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.	ORPHA:331206|DOID:0090013|MESH:C563311|http://identifiers.org/omim/601457|UMLS:C1832322
MONDO:0023059	Elliott ludman Teebi syndrome	biolink:Disease	mondo	MESH:C536204|GARD:0000189|UMLS:C2931128	gard_rare	multiple congenital anomalies, severe psychomotor retardation and symmetrical circumferential skin creases of arms and legs	http://purl.obolibrary.org/obo/MONDO_0023059		MESH:C536204|UMLS:C2931128
MONDO:0023050	ectrodactyly cardiopathy dysmorphism	biolink:Disease	mondo	UMLS:C2931127|MESH:C536187|GARD:0002063	gard_rare	ectrodactyly of lower limbs, congenital heart defect and characteristic facies|Van Den Ende Brunner syndrome	http://purl.obolibrary.org/obo/MONDO_0023050		MESH:C536187|UMLS:C2931127
MONDO:0023052	ectrodactyly polydactyly	biolink:Disease	mondo	GARD:0002068	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023052		
MONDO:0023054	klumpke's paralysis	biolink:Disease	mondo	NCIT:C116724|UMLS:C0270898|SCTID:83886009|GARD:0003123	gard_rare	Paralysis, Klumpke|Klumpke's palsy|Dejerine Klumpke Palsy|klumpke-dejerine paralysis|Klumpke's Palsy|Klumpke-DC)jerine paralysis|Klumpke-Dejerine paralysis|Lower brachial plexus palsy|Palsy, Klumpke's|Paralysis of the Lower Brachial Plexus|klumpke-dC)jerine brachial plexus injury|klumpke paralysis|Dejerine-Klumpke palsy|Klumpke-DC)jerine brachial plexus injury|Klumpke paralysis|klumpke's palsy|Klumpkes Palsy|Palsy, Dejerine-Klumpke|klumpke's paralysis|klumpke-dC)jerine paralysis|Lower Brachial Plexus Palsy|Klumpke Paralysis|Klumpke's paralysis|Klumpke Palsy|Dejerine-Klumpke Palsy	http://purl.obolibrary.org/obo/MONDO_0023054	Klumpke paralysis is a type of brachial palsy in newborns. Signs and symptoms include weakness and loss of movement of the arm and hand. Some babies experience drooping of the eyelid on the opposite side of the face as well. This symptom may also be referred to as Horner syndrome. Klumpke paralysis is caused by an injury to the nerves of the brachial plexus which may result from a difficult delivery. This injury can cause a stretching (neuropraxia), tearing (called avulsion when the tear is at the spine, and rupture when it is not), or scarring (neuroma) of the brachial plexus nerves. Most infants with Klumpke paralysis have the more mild form of injury (neuropraxia) and often recover within 6 months.	UMLS:C0270898|NCIT:C116724|SNOMEDCT:83886009
MONDO:0011078	anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis	biolink:Disease	mondo	UMLS:C1832362|MESH:C537694|GARD:0003062|OMIM:601427		anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis|Jung Wolff back Stahl syndrome	http://purl.obolibrary.org/obo/MONDO_0011078		UMLS:C1832362|MESH:C537694|http://identifiers.org/omim/601427
MONDO:0011077	microcephaly, corpus callosum dysgenesis, and cleft lip/palate	biolink:Disease	mondo	GARD:0003614|MESH:C537547|OMIM:601420|UMLS:C1832369	gard_rare	microcephaly, corpus callosum dysgenesis, and cleft lip/palate|microcephaly, facial clefting, and preaxial polydactyly|microcephaly, corpus callosum dysgenesis and cleft lip-palate|corpus callosum dysgenesis, microcephaly, infantile spasm, cleft lip-palate, exophthalmos and psychomotor retardation	http://purl.obolibrary.org/obo/MONDO_0011077		UMLS:C1832369|MESH:C537547|http://identifiers.org/omim/601420
ECTO:9000107	solvent exposure	biolink:OntologyClass	mondo			exposure to solvent	http://purl.obolibrary.org/obo/ECTO_9000107	An exposure to solvent.	
MONDO:0011079	rhizomelic dysplasia, Patterson-Lowry type	biolink:Disease	mondo	SCTID:715505002|GARD:0004703|ICD10:Q78.8|MESH:C537609|OMIM:601438|Orphanet:2831|UMLS:C1832359	gard_rare|ordo_malformation_syndrome	rhizomelic dysplasia, Patterson-Lowry type|Patterson-Lowry rhizomelic dysplasia|Patterson Lowry syndrome|rhizomelic dysplasia Patterson Lowry type	http://purl.obolibrary.org/obo/MONDO_0011079	Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia.	UMLS:C1832359|ORPHA:2831|MESH:C537609|SNOMEDCT:715505002|http://identifiers.org/omim/601438
CL:0000145	professional antigen presenting cell	biolink:Cell	mondo			APC	http://purl.obolibrary.org/obo/CL_0000145	A cell capable of processing and presenting lipid and protein antigens to T cells in order to initiate an immune response.	
CL:0000146	simple columnar epithelial cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000146		
CL:0000147	pigment cell	biolink:Cell	mondo	VHOG:0001678		chromatophore|chromatocyte	http://purl.obolibrary.org/obo/CL_0000147	A pigment cell is a cell that contains pigment granules.	
CL:0000148	melanocyte	biolink:Cell	mondo	BTO:0000847|FMA:70545|VHOG:0001679|CALOHA:TS-0613		melanophore	http://purl.obolibrary.org/obo/CL_0000148	A pigment cell derived from the neural crest. Contains melanin-filled pigment granules, which gives a brown to black appearance.	
MONDO:0011070	van Maldergem syndrome 1	biolink:Disease	mondo	DOID:0080585|OMIM:601390		DCHS1 van Maldergem syndrome|Van Maldergem syndrome type 1|VAN Maldergem syndrome 1; VMLDS1|van Maldergem syndrome 1|VMLDS1|van Maldergem syndrome caused by mutation in DCHS1|Cerebrofacioarticular syndrome	http://purl.obolibrary.org/obo/MONDO_0011070	Any van Maldergem syndrome in which the cause of the disease is a mutation in the DCHS1 gene.	http://identifiers.org/omim/601390|DOID:0080585
MONDO:0035009	isolated mesenteric vein thrombosis	biolink:Disease	mondo	Orphanet:583861	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0035009		ORPHA:583861
MONDO:0035008	isolated splenic vein thrombosis	biolink:Disease	mondo	Orphanet:583856	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0035008		ORPHA:583856
MONDO:0011072	NIDDM2	biolink:Disease	mondo	UMLS:C1832387|OMIM:601407|MESH:C563323		noninsulin-dependent diabetes mellitus 2|diabetes mellitus, noninsulin-dependent, 2|NIDDM2|diabetes mellitus, noninsulin-dependent, 2; NIDDM2	http://purl.obolibrary.org/obo/MONDO_0011072		MESH:C563323|http://identifiers.org/omim/601407|UMLS:C1832387
MONDO:0011071	hereditary thrombocytopenia and hematologic cancer predisposition syndrome	biolink:Disease	mondo	SCTID:725034002|GARD:0010352|ICD10:D69.4|UMLS:C1832388|MESH:C563324|Orphanet:71290	ordo_disease	familial thrombocytopenia with propensity to acute myelogenous leukemia|platelet disorder, familial, with associated myeloid malignancy; FPDMM|familial platelet syndrome with predisposition to acute myelogenous leukemia|thrombocytopenia, familial, with propensity to acute myelogenous leukemia|FPDMM|familial platelet disorder with associated myeloid malignancy|platelet disorder, aspirin-like|asprin-like platelet disorder|FPS/AML syndrome|FPD/AML syndrome|platelet disorder, familial, with associated myeloid malignancy	http://purl.obolibrary.org/obo/MONDO_0011071	The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes.	SNOMEDCT:725034002|ORPHA:71290|MESH:C563324|UMLS:C1832388
MONDO:0011074	autosomal dominant nonsyndromic deafness 7	biolink:Disease	mondo	MESH:C563321|ICD10:H90.3|OMIM:601412|UMLS:C1832379|DOID:0110591		DFNA7|deafness, autosomal dominant 7|autosomal dominant nonsyndromic deafness type 7|autosomal dominant deafness 7|deafness, autosomal dominant 7; DFNA7	http://purl.obolibrary.org/obo/MONDO_0011074	An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has material basis in variation in the chromosome region 1q21-q23.	DOID:0110591|MESH:C563321|http://identifiers.org/omim/601412|UMLS:C1832379
MONDO:0011073	diabetes mellitus, transient neonatal, 1	biolink:Disease	mondo	MESH:C563322|SCTID:609579009|OMIM:601410		diabetes mellitus, transient neonatal, 1|Dmtn|Tndm|diabetes mellitus, transient neonatal, type 1|Tndm1	http://purl.obolibrary.org/obo/MONDO_0011073		MESH:C563322|http://identifiers.org/omim/601410|SNOMEDCT:609579009
MONDO:0035004	serine biosynthesis pathway deficiency, infantile/juvenile form	biolink:Disease	mondo	Orphanet:583595	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0035004		ORPHA:583595
MONDO:0011076	myofibrillar myopathy 1	biolink:Disease	mondo	ICD10:G71.8|Orphanet:98909|DOID:0080092|OMIM:601419|UMLS:C1832370	ordo_disease	cardiomyopathy, dilated, with conduction defect and muscular dystrophy|arrhythmogenic right ventricular dysplasia, familial, 7, formerly|IBM1|arrhythmogenic right ventricular cardiomyopathy 7|cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D|CMD1F and LGMD1D, formerly|myopathy, myofibrillar, type 1|arrhythmogenic right ventricular dysplasia, familial, 7|myopathy, myofibrillar, 1|desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy|myofibrillar myopathy type 1|desmin-related myofibrillar myopathy|myofibrillar myopathy (disease) caused by mutation in DES|myopathy, myofibrillar, desmin-related|MFM1|desminopathy|desminopathy, primary|myopathy, myofibrillar, 1; MFM1|inclusion body myopathy 1, autosomal dominant, formerly|CMD1F and LGMD1D|DES myofibrillar myopathy (disease)|myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy|cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D, formerly|arrhythmogenic right ventricular cardiomyopathy 7, formerly|desmin-related myopathy|inclusion body myopathy 1, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0011076	Desminopathy is a rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure.	UMLS:C1832370|DOID:0080092|ORPHA:98909|http://identifiers.org/omim/601419
MONDO:0011075	retinitis pigmentosa 18	biolink:Disease	mondo	OMIM:601414|ICD10:H35.5|MESH:C563320|DOID:0110356|GARD:0010392|UMLS:C1832378	gard_rare	retinitis pigmentosa 18; RP18|retinitis pigmentosa type 18|RP18|retinitis pigmentosa caused by mutation in PRPF3|RP 18|PRPF3 retinitis pigmentosa|retinitis pigmentosa 18	http://purl.obolibrary.org/obo/MONDO_0011075	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF3 gene.	DOID:0110356|MESH:C563320|http://identifiers.org/omim/601414|UMLS:C1832378
MONDO:0023045	ectodermal dysplasia arthrogryposis diabetes mellitus	biolink:Disease	mondo	GARD:0002042	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023045		
MONDO:0023046	ectodermal dysplasia blindness	biolink:Disease	mondo	GARD:0002045	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023046		
MONDO:0023048	ectodermal dysplasia neurosensory deafness	biolink:Disease	mondo	GARD:0002053	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023048		
GO:1990580	regulation of cytoplasmic translational termination	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1990580	Any process that modulates the frequency, rate or extent of cytoplasmic translational termination.	
MONDO:0023040	ectodermal dysplasia Bartalos type	biolink:Disease	mondo	GARD:0002043	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023040		
MONDO:0023041	ectodermal dysplasia Berlin type	biolink:Disease	mondo	GARD:0002044	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023041		
MONDO:0023042	ectodermal dysplasia margarita type	biolink:Disease	mondo	GARD:0002050	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023042		
MONDO:0023043	ectodermal dysplasia alopecia preaxial polydactyly	biolink:Disease	mondo	MESH:C538016|UMLS:C2931691|GARD:0002040	gard_rare	absence of body & scalp hair, rounded nails, thin dental enamel, preaxial polydactyly of the feet, and unusual facial appearance	http://purl.obolibrary.org/obo/MONDO_0023043		UMLS:C2931691|MESH:C538016
MONDO:0011067	autosomal recessive nonsyndromic deafness 12	biolink:Disease	mondo	ICD10:H90.3|UMLS:C1832394|OMIM:601386|DOID:0110467|MESH:C563327		autosomal recessive deafness 12|autosomal recessive nonsyndromic deafness type 12|deafness, autosomal recessive type 12|deafness, autosomal recessive 12; DFNB12|DFNB12|deafness, autosomal recessive 12	http://purl.obolibrary.org/obo/MONDO_0011067	An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22.	UMLS:C1832394|DOID:0110467|MESH:C563327|http://identifiers.org/omim/601386
GO:2001020	regulation of response to DNA damage stimulus	biolink:OntologyClass	mondo			regulation of cellular response to DNA damage stimulus|regulation of cellular DNA damage response|regulation of DNA damage response|regulation of response to genotoxic stress	http://purl.obolibrary.org/obo/GO_2001020	Any process that modulates the frequency, rate or extent of response to DNA damage stimulus.	
GO:2001021	negative regulation of response to DNA damage stimulus	biolink:OntologyClass	mondo			negative regulation of DNA damage response|negative regulation of cellular response to DNA damage stimulus|negative regulation of cellular DNA damage response|negative regulation of response to genotoxic stress	http://purl.obolibrary.org/obo/GO_2001021	Any process that stops, prevents or reduces the frequency, rate or extent of response to DNA damage stimulus.	
MONDO:0011066	Charcot-Marie-Tooth disease type 4B1	biolink:Disease	mondo	Orphanet:99955|SCTID:715803003|DOID:0110191|MESH:C535420|OMIM:601382|UMLS:C1832399|GARD:0001253|ICD10:G60.0	gard_rare|ordo_disease	Charcot-Marie-Tooth disease, type 4B1; CMT4B1|Charcot-Marie-Tooth disease, autosomal recessive, with focally folded myelin sheaths, autosomal recessive, type 4B1|autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1|CMT 4B|Charcot-Marie-Tooth disease, type 4B1|Charcot-Marie-Tooth neuropathy, type 4B1|MTMR2 Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth neuropathy type 4B1|CMT4B1|CMT 4B1|Charcot-Marie-Tooth disease, type 4B|Charcot Marie Tooth disease type 4B1|Charcot-Marie-Tooth disease type 4 caused by mutation in MTMR2	http://purl.obolibrary.org/obo/MONDO_0011066	Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus).	UMLS:C1832399|ORPHA:99955|SNOMEDCT:715803003|DOID:0110191|MESH:C535420|http://identifiers.org/omim/601382
CL:0000153	glycosaminoglycan secreting cell	biolink:Cell	mondo			hyaluronic acid secreting cell|GAG secreting cell	http://purl.obolibrary.org/obo/CL_0000153	A cell that secretes glycosaminoglycans.	
GO:2001022	positive regulation of response to DNA damage stimulus	biolink:OntologyClass	mondo			positive regulation of response to genotoxic stress|positive regulation of cellular response to DNA damage stimulus|positive regulation of DNA damage response|positive regulation of cellular DNA damage response	http://purl.obolibrary.org/obo/GO_2001022	Any process that activates or increases the frequency, rate or extent of response to DNA damage stimulus.	
MONDO:0011069	cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction	biolink:Disease	mondo	GARD:0001227|MESH:C538072|OMIM:601389|UMLS:C1832391	gard_rare	cervical ribs, Sprengel anomaly, preaxial polydactyly, anal atresia, and urethral obstruction|cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction|Frydman Cohen Ashkenazi syndrome	http://purl.obolibrary.org/obo/MONDO_0011069		http://identifiers.org/omim/601389|MESH:C538072|UMLS:C1832391
CL:0000154	protein secreting cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000154		
MONDO:0011068	type 1 diabetes mellitus 12	biolink:Disease	mondo	MESH:C563326|UMLS:C1832392|OMIM:601388|DOID:0110751|ICD10:E10		IDDM12|diabetes mellitus, insulin-dependent, 12; IDDM12|diabetes mellitus, insulin-dependent, 12|type 1 diabetes mellitus caused by mutation in CTLA4|insulin-dependent diabetes mellitus 12|diabetes mellitus, insulin-dependent, type 12|CTLA4 type 1 diabetes mellitus	http://purl.obolibrary.org/obo/MONDO_0011068	Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the CTLA4 gene.	http://identifiers.org/omim/601388|UMLS:C1832392|MESH:C563326|DOID:0110751
GO:2001023	regulation of response to drug	biolink:OntologyClass	mondo			regulation of drug susceptibility/resistance|regulation of drug resistance	http://purl.obolibrary.org/obo/GO_2001023	Any process that modulates the frequency, rate or extent of response to drug.	
GO:2001024	negative regulation of response to drug	biolink:OntologyClass	mondo			negative regulation of drug resistance|negative regulation of drug susceptibility/resistance	http://purl.obolibrary.org/obo/GO_2001024	Any process that stops, prevents or reduces the frequency, rate or extent of response to drug.	
GO:2001025	positive regulation of response to drug	biolink:OntologyClass	mondo			positive regulation of drug resistance|positive regulation of drug susceptibility/resistance	http://purl.obolibrary.org/obo/GO_2001025	Any process that activates or increases the frequency, rate or extent of response to drug.	
CL:0000157	surfactant secreting cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000157	A cell that specializes in secretion of surfactant in the alveoli of the lung.	
CL:0000159	seromucus secreting cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000159		
MONDO:0011061	chorea, remitting, with nystagmus and cataract	biolink:Disease	mondo	GARD:0009606|UMLS:C1832422|MESH:C535355|OMIM:601372		chorea, remitting with nystagmus and cataracts|familial remitting chorea, nystagmus and cataracts|chorea, remitting, with nystagmus and cataract	http://purl.obolibrary.org/obo/MONDO_0011061		UMLS:C1832422|MESH:C535355|http://identifiers.org/omim/601372
MONDO:0011060	early-onset non-syndromic cataract	biolink:Disease	mondo	UMLS:C1832423|Orphanet:91492|OMIM:601371|ICD10:Q12.0	ordo_disease	nuclear sclerosis of the lens|cataract, age-related nuclear	http://purl.obolibrary.org/obo/MONDO_0011060	Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected.	http://identifiers.org/omim/601371|ORPHA:91492|UMLS:C1832423
MONDO:0011063	hidrotic ectodermal dysplasia, Christianson-Fourie type	biolink:Disease	mondo	OMIM:601375|Orphanet:1808|GARD:0002682|UMLS:C1832411|ICD10:Q82.8|MESH:C536180	ordo_malformation_syndrome|gard_rare	Christianson-Fourie syndrome|ectodermal dysplasia, hidrotic, Christianson-Fourie type	http://purl.obolibrary.org/obo/MONDO_0011063	Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia.	UMLS:C1832411|MESH:C536180|ORPHA:1808|http://identifiers.org/omim/601375
MONDO:0011062	aprosencephaly cerebellar dysgenesis	biolink:Disease	mondo	OMIM:601374|Orphanet:1126|MESH:C563331|ICD10:Q04.3|UMLS:C1832412	ordo_malformation_syndrome	aprosencephaly and cerebellar dysgenesis	http://purl.obolibrary.org/obo/MONDO_0011062		ORPHA:1126|UMLS:C1832412|MESH:C563331|http://identifiers.org/omim/601374
MONDO:0011065	Hunter-McAlpine craniosynostosis	biolink:Disease	mondo	OMIM:601379|Orphanet:97340|SCTID:721227001|UMLS:C1832408|GARD:0002754|ICD10:Q87.0|MESH:C536072	ordo_malformation_syndrome	Hunter-McAlpine craniosynostosis syndrome|craniosynostosis, mental deficiency, almond-shaped palpebral fissures, downturned mouth, mild acral-skeletal anomalies, and short stature|Hunter-McAlpine syndrome	http://purl.obolibrary.org/obo/MONDO_0011065	Hunter-McAlpine craniosynostosis is characterised by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter).	SNOMEDCT:721227001|UMLS:C1832408|MESH:C536072|ORPHA:97340|http://identifiers.org/omim/601379
CL:0000150	glandular epithelial cell	biolink:Cell	mondo	CALOHA:TS-2085|FMA:86494			http://purl.obolibrary.org/obo/CL_0000150	A specialized epithelial cell that is capable of synthesizing and secreting certain biomolecules.	
CL:0000151	secretory cell	biolink:Cell	mondo	BTO:0003659|FMA:86916			http://purl.obolibrary.org/obo/CL_0000151	A cell that specializes in controlled release of one or more substances.	
MONDO:0011064	lethal chondrodysplasia, Seller type	biolink:Disease	mondo	OMIM:601376|GARD:0003226|MESH:C563330|ICD10:Q77.8|UMLS:C1832410|Orphanet:1421	gard_rare|ordo_malformation_syndrome	lethal chondrodysplasia seller type|chondrodysplasia, lethal, with long bone angulation and mixed bone density	http://purl.obolibrary.org/obo/MONDO_0011064		UMLS:C1832410|ORPHA:1421|MESH:C563330|http://identifiers.org/omim/601376
MONDO:0001521	intermittent explosive disorder	biolink:Disease	mondo	ICD10:F63.81|DOID:12401|SCTID:231527003|NCIT:C94332|ICD9:312.34|ICD10:F60.3|COHD:440989|ICD9:301.3		explosive personality disorder	http://purl.obolibrary.org/obo/MONDO_0001521	A disorder characterized by recurrent episodes of serious assaultive acts or destruction of property due to a failure to resist aggressive impulses; the degree of aggression during these episodes is grossly out of proportion to any psychosocial provocation. The aggressive episodes are not etiologically linked to another mental disorder, a general medical condition, or substance use.	DOID:12401|SNOMEDCT:231527003|NCIT:C94332
MONDO:0001520	kleptomania	biolink:Disease	mondo	ICD10:F63.2|COHD:434632|ICD9:312.32|DOID:12400|NCIT:C94333|SCTID:69361009		kleptomania|pathological stealing	http://purl.obolibrary.org/obo/MONDO_0001520	A disorder characterized by the recurrent failure to resist the impulse to steal items of little intrinsic value; the individual experiences a rising subjective sense of tension before the theft and a sense of gratification or relief during the theft.	SNOMEDCT:69361009|DOID:12400|NCIT:C94333
MONDO:0001525	thyrocalcitonin secretion disease	biolink:Disease	mondo	UMLS:C0701822|ICD9:246.0|COHD:140364|DOID:12424|SCTID:190303007		disorder of thyrocalcitonin secretion	http://purl.obolibrary.org/obo/MONDO_0001525		DOID:12424|SNOMEDCT:190303007|UMLS:C0701822
MONDO:0001524	globe disease	biolink:Disease	mondo	ICD9:360.29|DOID:1242|ICD10:H44.39			http://purl.obolibrary.org/obo/MONDO_0001524		DOID:1242
MONDO:0001523	luxation of globe	biolink:Disease	mondo	UMLS:C0154806|ICD10:H44.82|DOID:1241|ICD9:360.81|SCTID:20842008		luxation of eye	http://purl.obolibrary.org/obo/MONDO_0001523		DOID:1241|UMLS:C0154806|SNOMEDCT:20842008
MONDO:0001522	pyromania	biolink:Disease	mondo	ICD10:F63.1|DOID:12402|NCIT:C94334|ICD9:312.33|SCTID:600009|MESH:D005391		pathological firesetting|firesetting behavior	http://purl.obolibrary.org/obo/MONDO_0001522	A disorder characterized by a fascination with fire and recurrent episodes of fire setting during which the individual experiences a rising subjective sense of tension before the fire setting and a sense of gratification or relief when setting the fire. There is no ulterior motive (such as monetary gain or the expression of political ideology) to the fire setting.	DOID:12402|MESH:D005391|NCIT:C94334|SNOMEDCT:600009
MONDO:0013507	granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3	biolink:Disease	mondo	OMIM:613960|UMLS:C3151409|DOID:0070194		granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type III; CDG3|CDG3|granulomatous disease, chronic, due to Ncf4 deficiency|granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type III|CGD, autosomal recessive cytochrome B-positive, type 3	http://purl.obolibrary.org/obo/MONDO_0013507		http://identifiers.org/omim/613960|UMLS:C3151409|DOID:0070194
UBERON:0010384	lumen of laryngopharynx	biolink:AnatomicalEntity	mondo			laryngopharynx lumen	http://purl.obolibrary.org/obo/UBERON_0010384	A anatomical space that is enclosed by a hypopharynx.	
HP:0010566	Hamartoma	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:51398009|MSH:D006222|UMLS:C0018552|SNOMEDCT_US:400006008			http://purl.obolibrary.org/obo/HP_0010566	A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma.	
MONDO:0013508	MYP19	biolink:Disease	mondo	UMLS:C3151410|OMIM:613969		myopia 19, autosomal dominant|MYP19|myopia 19, autosomal dominant; MYP19	http://purl.obolibrary.org/obo/MONDO_0013508		http://identifiers.org/omim/613969|UMLS:C3151410
MONDO:0013505	spermatogenic failure 9	biolink:Disease	mondo	UMLS:C3151407|DOID:0070175|OMIM:613958		spermatogenic failure 9|spermatogenic failure type 9|SPGF9|globozoospermia, total|DPY19L2 azoospermia|globozoospermia, complete|azoospermia caused by mutation in DPY19L2|spermatogenic failure 9; SPGF9	http://purl.obolibrary.org/obo/MONDO_0013505	Any azoospermia in which the cause of the disease is a mutation in the DPY19L2 gene.	http://identifiers.org/omim/613958|UMLS:C3151407|DOID:0070175
MONDO:0013506	schizophrenia 16	biolink:Disease	mondo	UMLS:C3151408|OMIM:613959|DOID:0070092		schizophrenia 16; SCZD16|SCZD16|chromosome 7Q36.3 Duplication syndrome, 362-Kb|schizophrenia susceptibility locus, chromosome 7Q36.3-related|schizophrenia 16|schizophrenia type 16	http://purl.obolibrary.org/obo/MONDO_0013506	A schizophrenia that has material basis in a mutation on chromosome 7q36.3.	http://identifiers.org/omim/613959|UMLS:C3151408|DOID:0070092
UBERON:0010388	proximal segment of rib	biolink:AnatomicalEntity	mondo			proximal part of rib|vertebral part of rib|proximal rib segment|proximal rib|costal part of rib	http://purl.obolibrary.org/obo/UBERON_0010388	The segment of the rib that connects to a vertebra[MP]. a small part of the rib composed of the head, neck, tuberculum and a short proximal part of the body[PMID]	
MONDO:0013509	intellectual disability, autosomal dominant 6	biolink:Disease	mondo	UMLS:C3151411|OMIM:613970|DOID:0070036		autosomal dominant mental retardation 6|autosomal dominant intellectual disability 6|mental retardation, autosomal dominant 6, with or without seizures|intellectual disability, autosomal dominant 6, with or without seizures|mental retardation, autosomal dominant 6|mental retardation, autosomal dominant 6; MRD6|mental retardation, autosomal dominant type 6|intellectual disability, autosomal dominant 6; MRD6|intellectual disability, autosomal dominant type 6|intellectual disability, autosomal dominant 6|intellectual disability, autosomal dominant 6, with or without seizures; MRD6|mental retardation, autosomal dominant 6, with or without seizures; MRD6|MRD6|autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN2B|autosomal dominant non-syndromic intellectual disability 6|GRIN2B autosomal dominant non-syndromic intellectual disability	http://purl.obolibrary.org/obo/MONDO_0013509	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN2B gene.	http://identifiers.org/omim/613970|UMLS:C3151411|DOID:0070036
MONDO:0013510	melanoma, cutaneous malignant, susceptibility to, 6	biolink:Disease	mondo	OMIM:613972	predisposition	melanoma, cutaneous malignant, susceptibility to, 6|susceptibility to cutaneous malignant melanoma 6|CMM6|melanoma, cutaneous malignant, susceptibility to, 6; CMM6|melanoma, cutaneous malignant, susceptibility to, type 6	http://purl.obolibrary.org/obo/MONDO_0013510		http://identifiers.org/omim/613972
MONDO:0013511	cyanosis, transient neonatal	biolink:Disease	mondo	UMLS:C3151421|OMIM:613977		TNCY|cyanosis, transient neonatal; TNCY|cyanosis, transient neonatal	http://purl.obolibrary.org/obo/MONDO_0013511		UMLS:C3151421|http://identifiers.org/omim/613977
UBERON:0010379	superior tarsal muscle	biolink:AnatomicalEntity	mondo			the superior tarsal muscle|mueller muscle|Mueller's muscle|Muller's muscle|musculus tarsalis superior|Müller's muscle	http://purl.obolibrary.org/obo/UBERON_0010379	The superior tarsal muscle is a smooth muscle adjoining the levator palpebrae superioris muscle that helps to raise the upper eyelid.	
HGNC:5028	HNMT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5028		
MONDO:0013514	hypotrichosis 3	biolink:Disease	mondo	OMIM:613981|DOID:0110700|UMLS:C3151432		HYPT3|hypotrichosis caused by mutation in KRT74|hypt3|hypotrichosis type 3|hypotrichosis 3|hypotrichosis simplex of the scalp 2|Htss2|KRT74 hypotrichosis|hypotrichosis 3; HYPT3	http://purl.obolibrary.org/obo/MONDO_0013514	Any hypotrichosis in which the cause of the disease is a mutation in the KRT74 gene.	http://identifiers.org/omim/613981|UMLS:C3151432|DOID:0110700
MONDO:0013515	osteogenesis imperfecta type 6	biolink:Disease	mondo	ICD10:Q78.0|UMLS:C3279564|MESH:C536047|GARD:0008700|OMIM:613982|DOID:0110350		OI type 6|OI type VI|osteogenesis imperfecta, type VI|osteogenesis imperfecta caused by mutation in SERPINF1|osteogenesis imperfecta type|osteogenesis imperfecta type VI|osteogenesis imperfecta, type 6|osteogenesis imperfecta, type VI; OI6|SERPINF1 osteogenesis imperfecta|SERPINFI- related osteogenesis imperfecta|OI6	http://purl.obolibrary.org/obo/MONDO_0013515	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINF1 gene.	MESH:C536047|http://identifiers.org/omim/613982|UMLS:C3279564|DOID:0110350
MONDO:0013512	hemoglobin H disease	biolink:Disease	mondo	OMIM:613978|NCIT:C95504|ICD9:282.49|Orphanet:93616|MedDRA:10063435|ICD10:D56.0|SCTID:48553001|UMLS:C3161174|DOID:0110031	ordo_clinical_subtype	Hemoglobin H disease, Deletional|HbH disease|alpha-thalassemia intermedia|HEMOGLOBIN H disease; HbH|alpha thalassemia, hemoglobin H type|Alpha-thalassemia intermedia|hemoglobin H disease, deletional|Hemoglobin H disease, Nondeletional|HbH|Alpha-thalassemia, Hemoglobin H type|hemoglobin H disease	http://purl.obolibrary.org/obo/MONDO_0013512	Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia characterized by pronounced microcytic hypochromic hemolytic anemia.	MEDDRA:10063435|DOID:0110031|UMLS:C3161174|ORPHA:93616|NCIT:C95504|SNOMEDCT:48553001|http://identifiers.org/omim/613978
MONDO:0013513	atrial fibrillation, familial, 9	biolink:Disease	mondo	OMIM:613980|UMLS:C3151431		familial atrial fibrillation caused by mutation in KCNJ2|ATFB9|atrial fibrillation, familial, 9; ATFB9|atrial fibrillation, familial, type 9|KCNJ2 familial atrial fibrillation|atrial fibrillation, familial, 9	http://purl.obolibrary.org/obo/MONDO_0013513	Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNJ2 gene.	http://identifiers.org/omim/613980|UMLS:C3151431
CHEBI:15765	L-dopa	biolink:ChemicalSubstance	mondo			3-Hydroxy-L-tyrosine|Dopar|(-)-dopa|Dihydroxy-L-phenylalanine|L-Dopa|L-dopa|L-DOPA|beta-(3,4-dihydroxyphenyl)alanine|L-beta-(3,4-Dihydroxyphenyl)alanine|3,4-Dihydroxy-L-phenylalanine|beta-(3,4-dihydroxyphenyl)-L-alanine|levodopa|levodopum|(2S)-2-amino-3-(3,4-dihydroxyphenyl)propanoic acid|3,4-DIHYDROXYPHENYLALANINE|(-)-3-(3,4-dihydroxyphenyl)-L-alanine	http://purl.obolibrary.org/obo/CHEBI_15765	An optically active form of dopa having L-configuration. Used to treat the stiffness, tremors, spasms, and poor muscle control of Parkinson's disease	
MONDO:0001518	spastic entropion	biolink:Disease	mondo	DOID:12395|UMLS:C0155190|SCTID:20828000|COHD:375272|ICD9:374.03			http://purl.obolibrary.org/obo/MONDO_0001518		UMLS:C0155190|DOID:12395|SNOMEDCT:20828000
HGNC:7680	NDST1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7680		
MONDO:0001517	dysentery	biolink:Disease	mondo	DOID:12384|SCTID:111939009|COHD:198337|UMLS:C0013369|MESH:D004403|ICD9:009.2|EFO:1001869		diarrheal disease, infectious|infectious diarrheal diseases|infectious diarrheal disease|dysenteric diarrhea|infectious diarrhea	http://purl.obolibrary.org/obo/MONDO_0001517	Acute inflammation of the intestine associated with infectious diarrhea of various etiologies, generally acquired by eating contaminated food containing toxins, biological derived from bacteria or other microorganisms. Dysentery is characterized initially by watery feces then by bloody mucoid stools. It is often associated with abdominal pain; fever; and dehydration.	SNOMEDCT:111939009|UMLS:C0013369|DOID:12384|MESH:D004403
CHEBI:64709	organic acid	biolink:ChemicalSubstance	mondo			organic acids	http://purl.obolibrary.org/obo/CHEBI_64709	Any organic molecular entity that is acidic and contains carbon in covalent linkage.	
MONDO:0001516	spinal muscular atrophy	biolink:Disease	mondo	ICD9:335.1|NCIT:C85075|EFO:0008525|ICD9:335.10|SCTID:5262007|UMLS:C0026847|COHD:372605|GARD:0007674|MESH:D009134|DOID:12377|ICD9:335.19|ICD10:G12.9	gard_rare		http://purl.obolibrary.org/obo/MONDO_0001516	Spinal muscular atrophy (SMA) refers to a group of inherited conditions that affect the muscles. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with SMA experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person.	SNOMEDCT:5262007|MESH:D009134|UMLS:C0026847|NCIT:C85075|DOID:12377
CHEBI:64708	one-carbon compound	biolink:ChemicalSubstance	mondo			one-carbon compounds	http://purl.obolibrary.org/obo/CHEBI_64708	An organic molecular entity containing a single carbon atom (C1).	
MONDO:0001515	corneal degeneration	biolink:Disease	mondo	DOID:1237|ICD9:371.4|UMLS:C0155118|ICD9:371.49|SCTID:111521006|ICD10:H18.4|COHD:372635|ICD10:H18.40|ICD9:371.40			http://purl.obolibrary.org/obo/MONDO_0001515		SNOMEDCT:111521006|UMLS:C0155118|DOID:1237
HGNC:7684	NDUFA10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7684		
HGNC:7683	NDUFA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7683		
MONDO:0001519	entropion (disease)	biolink:Disease	mondo	SCTID:33168009|DOID:12397|COHD:379020|UMLS:C0014390|ICD9:374.00|HP:0000621|MESH:D004774		entropion	http://purl.obolibrary.org/obo/MONDO_0001519	The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed)	MESH:D004774|UMLS:C0014390|DOID:12397|SNOMEDCT:33168009
HGNC:5024	HNF4A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5024		
HGNC:7685	NDUFA2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7685		
MONDO:0001532	capillariasis	biolink:Disease	mondo	UMLS:C0006897|ICD9:127.5|DOID:12474|SCTID:52979002|ICD10:B81.1		Capillaria infection|infections, Capillaria	http://purl.obolibrary.org/obo/MONDO_0001532	A infectious disease involving the Capillaria.	SNOMEDCT:52979002|DOID:12474|UMLS:C0006897
MONDO:0001531	blood coagulation disease	biolink:Disease	mondo	ICD9:286|ICD9:286.9|COHD:432585|ICD9:287.8|SCTID:64779008|ICD10:D68.9|NCIT:C2902|DOID:1247|MESH:D001778		blood coagulation disorder|coagulation disorders, blood|disorder, blood coagulation|coagulation disorder, blood|coagulopathy|coagulation defect|coagulation disorder|postpartum coagulation defect|disorders, blood coagulation|postpartum coagulation defect with delivery	http://purl.obolibrary.org/obo/MONDO_0001531	A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood.	DOID:1247|SNOMEDCT:64779008|NCIT:C2902|MESH:D001778
HGNC:404	ALDH2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/404		
MONDO:0001530	secondary hyperparathyroidism of renal origin	biolink:Disease	mondo	UMLS:C0271847|ICD10:N25.81|SCTID:19034001|DOID:12465|ICD9:588.81|COHD:133810		hyperparathyroidism due to renal insufficiency|secondary hyperparathyroidism (of renal origin)|secondary hyperparathyroidism	http://purl.obolibrary.org/obo/MONDO_0001530		DOID:12465|SNOMEDCT:19034001|UMLS:C0271847
HGNC:403	ALDH3A2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/403		
MONDO:0001536	vaginal leiomyoma	biolink:Disease	mondo	UMLS:C1336939|NCIT:C6373|DOID:125		leiomyoma of the vagina|vagina leiomyoma|leiomyoma of vagina|vaginal leiomyoma	http://purl.obolibrary.org/obo/MONDO_0001536	A benign smooth muscle neoplasm arising from the vagina. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	NCIT:C6373|UMLS:C1336939|DOID:125
MONDO:0001535	vagus nerve disease	biolink:Disease	mondo	DOID:12491|NCIT:C27591|MESH:D020421|ICD9:352.3|UMLS:C0152179|SCTID:73765005|COHD:432307|ICD10:G52.2		Vagus nerve disorder|disorder of pneumogastric [10th] nerve|disease of vagus nerve|vagus nerve disease or disorder|disorder of vagal nerve|disorder of vagus nerve|vagus nerve disease|disease or disorder of vagus nerve	http://purl.obolibrary.org/obo/MONDO_0001535	A disease involving the vagus nerve.	SNOMEDCT:73765005|DOID:12491|NCIT:C27591|MESH:D020421|UMLS:C0152179
MONDO:0001534	ocular hyperemia	biolink:Disease	mondo	SCTID:359610006|UMLS:C0155169|DOID:1248		hyperemia eye|hyperemia of conjunctiva	http://purl.obolibrary.org/obo/MONDO_0001534		SNOMEDCT:359610006|UMLS:C0155169|DOID:1248
MONDO:0001533	pes anserinus tendinitis or bursitis	biolink:Disease	mondo	ICD9:726.61|DOID:12475			http://purl.obolibrary.org/obo/MONDO_0001533		DOID:12475
UBERON:0010371	ecto-epithelium	biolink:AnatomicalEntity	mondo			ectoderm-derived epithelium	http://purl.obolibrary.org/obo/UBERON_0010371	Epithelium composed of cells that develops from the ectoderm[FMA,modified].	
HP:0010551	Paraplegia/paraparesis	biolink:PhenotypicFeature	mondo	UMLS:C4023792			http://purl.obolibrary.org/obo/HP_0010551	Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength.	
UBERON:0010377	mesenchyme from somatopleure	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010377	Mesenchyme that develops_from a somatopleure.	
UBERON:0010378	mesenchyme from splanchnopleure	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010378	Mesenchyme that develops_from a splanchnopleure.	
HP:0010550	Paraplegia	biolink:PhenotypicFeature	mondo	MSH:D010264|UMLS:C0030486|SNOMEDCT_US:60389000		Leg paralysis	http://purl.obolibrary.org/obo/HP_0010550	Severe or complete weakness of both lower extremities with sparing of the upper extremities.	
UBERON:0010375	pancreas dorsal primordium	biolink:AnatomicalEntity	mondo			dorsal pancreas	http://purl.obolibrary.org/obo/UBERON_0010375		
NCBITaxon:134742	Sigmodon alstoni	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_134742		
UBERON:0010376	pancreas ventral primordium	biolink:AnatomicalEntity	mondo			ventral pancreas	http://purl.obolibrary.org/obo/UBERON_0010376		
MONDO:0013500	immunodeficiency 51	biolink:Disease	mondo	OMIM:613953|UMLS:C4310803|UMLS:C3151402		candidiasis, familial, 5, formerly|candidiasis, familial, 5; CANDF5|candidiasis, familial, type 5|CANDF5|candidiasis, familial chronic mucocutaneous, autosomal recessive|IMD51|immunodeficiency 51; IMD51|candidiasis, familial, 5	http://purl.obolibrary.org/obo/MONDO_0013500		UMLS:C4310803|http://identifiers.org/omim/613953|UMLS:C3151402
CHEBI:39745	dihydrogenphosphate	biolink:ChemicalSubstance	mondo			dihydrogen(tetraoxidophosphate)(1-)|DIHYDROGENPHOSPHATE ION|dihydrogentetraoxophosphate(1-)|dihydrogenphosphate|dihydrogentetraoxophosphate(V)|H2PO4(-)|[PO2(OH)2](-)|dihydroxidodioxidophosphate(1-)	http://purl.obolibrary.org/obo/CHEBI_39745	A monovalent inorganic anion that consists of phosphoric acid in which one of the three OH groups has been deprotonated.	
HGNC:7698	NDUFB3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7698		
HGNC:5037	HNRNPDL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5037		
UBERON:0010368	pulmonary lobule	biolink:AnatomicalEntity	mondo			lobulus pulmonis	http://purl.obolibrary.org/obo/UBERON_0010368	The smallest anatomical unit of the lung, measuring 0.50 to 2.00 cm in diameter. Each lobule is composed of 4-8 terminal bronchioles and their distal alveolar ducts and sacs. The lobules are separated by fibrous interlobular septa.	
MONDO:0013503	candidiasis, familial, 6	biolink:Disease	mondo	UMLS:C3151405|OMIM:613956		familial chronic mucocutaneous candidiasis caused by mutation in IL17F|CANDF6|IL17F familial chronic mucocutaneous candidiasis|candidiasis, familial chronic mucocutaneous, autosomal dominant|candidiasis, familial, 6|candidiasis, familial, type 6|candidiasis, familial, 6; CANDF6	http://purl.obolibrary.org/obo/MONDO_0013503	Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17F gene.	http://identifiers.org/omim/613956|UMLS:C3151405
MONDO:0013504	spermatogenic failure 8	biolink:Disease	mondo	UMLS:C3151406|DOID:0070169|OMIM:613957		spermatogenic failure type 8|NR5A1 azoospermia|azoospermia caused by mutation in NR5A1|SPGF8|spermatogenic failure 8; SPGF8|spermatogenic failure 8	http://purl.obolibrary.org/obo/MONDO_0013504	Any azoospermia in which the cause of the disease is a mutation in the NR5A1 gene.	http://identifiers.org/omim/613957|UMLS:C3151406|DOID:0070169
MONDO:0013501	amyotrophic lateral sclerosis type 14	biolink:Disease	mondo	UMLS:C3151403|OMIM:613954|DOID:0060205		amyotrophic lateral sclerosis 14|VCP amyotrophic lateral sclerosis|amyotrophic lateral sclerosis, with or without frontotemporal dementia|amyotrophic lateral sclerosis caused by mutation in VCP|ALS14|amyotrophic lateral sclerosis 14 with or without frontotemporal dementia|amyotrophic lateral sclerosis 14 with or without frontotemporal dementia; ALS14	http://purl.obolibrary.org/obo/MONDO_0013501	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VCP gene.	http://identifiers.org/omim/613954|UMLS:C3151403|DOID:0060205
MONDO:0013502	amyloidosis, primary localized cutaneous, 2	biolink:Disease	mondo	OMIM:613955|UMLS:C3151404		PLCA2|amyloidosis, primary localized cutaneous, type 2|amyloidosis, primary localized cutaneous, 2; PLCA2|amyloidosis, primary localized cutaneous, 2	http://purl.obolibrary.org/obo/MONDO_0013502		http://identifiers.org/omim/613955|UMLS:C3151404
MONDO:0001529	pancytopenia	biolink:Disease	mondo	DOID:12450|SCTID:127034005|UMLS:C0030312|ICD9:284.1|ICD10:D61.81|NCIT:C34889|MESH:D010198|COHD:432881|ICD9:284.89			http://purl.obolibrary.org/obo/MONDO_0001529	A finding of low numbers of red and white blood cells and platelets in the peripheral blood.	UMLS:C0030312|NCIT:C34889|MESH:D010198|DOID:12450|SNOMEDCT:127034005
MONDO:0001528	vulva cancer	biolink:Disease	mondo	SCTID:363367000|DOID:1245|MESH:D014846|GARD:0009349|ICD10:C51|NCIT:C7502|ICD9:184.4|ICD10:C51.9		neoplasm of vulva|malignant vulvar tumor|vulvar neoplasm|Ca vulva|malignant mammalian vulva neoplasm|malignant neoplasm of the vulva|malignant neoplasm of vulva|vulval neoplasm|cancer of mammalian vulva|malignant vulva tumor|vulval cancer|vulvar tumor|malignant tumor of the vulva|malignant tumor of vulva|vulvar cancer|malignant neoplasm of vulva unspecified|malignant neoplasm of vulva, unspecified|malignant vulva neoplasm|malignant neoplasm of mammalian vulva|malignant neoplasm of vulva, NOS|mammalian vulva cancer|malignant vulvar neoplasm	http://purl.obolibrary.org/obo/MONDO_0001528	A primary or metastatic malignant neoplasm involving the vulva.	MESH:D014846|NCIT:C7502|DOID:1245|SNOMEDCT:363367000
HGNC:7690	NDUFA6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7690		
HGNC:7693	NDUFA9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7693		
MONDO:0001527	conjugate gaze palsy	biolink:Disease	mondo	SCTID:1534008|COHD:377566|DOID:12445|UMLS:C0702143|ICD9:378.81		palsy of conjugate gaze	http://purl.obolibrary.org/obo/MONDO_0001527		DOID:12445|UMLS:C0702143|SNOMEDCT:1534008
MONDO:0001526	labia minora cancer	biolink:Disease	mondo	UMLS:C0496815|ICD10:C51.1|DOID:1243|NCIT:C7637|ICD9:184.2|SCTID:363447008		malignant tumor of the labia minora|malignant neoplasm of labia minora|malignant tumor of labia minora|malignant neoplasm of labium minora|malignant neoplasm of the labia minora|malignant labia minora tumor|labium minora cancer|malignant labium minora neoplasm|cancer of labium minora|malignant neoplasm of labium minus|malignant labia minora neoplasm	http://purl.obolibrary.org/obo/MONDO_0001526	A malignant neoplasm that affects the labia minora.	SNOMEDCT:363447008|NCIT:C7637|DOID:1243|UMLS:C0496815
HGNC:5031	HNRNPA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5031		
NCBITaxon:13373	Burkholderia mallei	organism taxon	mondo	GC_ID:11|PMID:12734250|PMID:1283774|PMID:16558776		Pseudomonas mallei|Bacillus mallei|Pfeifferella mallei|Acinetobacter mallei|Malleomyces mallei|Actinobacillus mallei|Loefferella mallei	http://purl.obolibrary.org/obo/NCBITaxon_13373		
HGNC:5033	HNRNPA2B1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5033		
MONDO:0001503	primary eye hypotony	biolink:Disease	mondo	UMLS:C0154782|COHD:374346|ICD9:360.31|DOID:12349|SCTID:2251002|ICD10:H44.44		primary hypotony of eye	http://purl.obolibrary.org/obo/MONDO_0001503		SNOMEDCT:2251002|DOID:12349|UMLS:C0154782
MONDO:0001502	retroperitoneum carcinoma	biolink:Disease	mondo	UMLS:C0948749|NCIT:C7352|DOID:12342		carcinoma of the retroperitoneum|carcinoma of retroperitoneal space|carcinoma of retroperitoneum|retroperitoneal space carcinoma|retroperitoneal cancer|retroperitoneal carcinoma	http://purl.obolibrary.org/obo/MONDO_0001502	A carcinoma that arises from epithelial cells of the retroperitoneal space.	UMLS:C0948749|NCIT:C7352|DOID:12342
MONDO:0001501	retroperitoneal sarcoma	biolink:Disease	mondo	DOID:12341|NCIT:C4832|SCTID:307219002|UMLS:C0585129		retroperitoneal space sarcoma|retroperitoneal sarcoma|sarcoma of retroperitoneal space	http://purl.obolibrary.org/obo/MONDO_0001501	A sarcoma involving a retroperitoneal space.	SNOMEDCT:307219002|DOID:12341|UMLS:C0585129|NCIT:C4832
MONDO:0001500	gender identity disorder	biolink:Disease	mondo	ICD10:F64.2|ICD9:302.89|DOID:1234|ICD9:302.8|ICD9:302.6|ICD9:302.85|SCTID:87991007|EFO:0008587|NCIT:C94362			http://purl.obolibrary.org/obo/MONDO_0001500	A disorder characterized by a strong and persistent cross-gender identification (such as stating a desire to be the other sex or frequently passing as the other sex) coupled with persistent discomfort with his or her sex (manifested in adults, for example, as a preoccupation with altering primary and secondary sex characteristics through hormonal manipulation or surgery).	NCIT:C94362|SNOMEDCT:87991007|DOID:1234
NCBITaxon:1649845	Yersinia pseudotuberculosis complex	organism taxon	mondo	GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_1649845		
UBERON:0010362	endoskeleton	biolink:AnatomicalEntity	mondo			replacement skeleton	http://purl.obolibrary.org/obo/UBERON_0010362	Skeletal subdivision that undergoes indirect development and includes elements that develop as a replacement or substitution of other elements or tissues.	
UBERON:0010363	endochondral element	biolink:AnatomicalEntity	mondo			endochondral replacement element	http://purl.obolibrary.org/obo/UBERON_0010363	A skeletal element that has the potential to participate in endochondral ossification, and may participate in intramembranous ossification.	
UBERON:0010360	pharyngeal arch mesenchyme from head mesenchyme	biolink:AnatomicalEntity	mondo			arch mesenchyme from head mesenchyme|branchial arch mesenchyme from head mesenchyme|head mesenchyme derived arch mesenchyme	http://purl.obolibrary.org/obo/UBERON_0010360	Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a entire pharyngeal arch associated mesenchyme.	
HP:0010541	Cutis gyrata of scalp	biolink:PhenotypicFeature	mondo	UMLS:C4072877|SNOMEDCT_US:51603000|UMLS:C4280378|UMLS:C0263417		Thickened folds on top of scalp|Scalp folds|Cutis verticis gyrata|Thickening of the scalp|Furrows in thickened skin on top of scalp|Scalp furrows	http://purl.obolibrary.org/obo/HP_0010541	The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction.	
UBERON:0010366	conjunctival vasculature	biolink:AnatomicalEntity	mondo			conjunctival veins set|conjunctival veins|venae conjunctivales|set of conjunctival veins	http://purl.obolibrary.org/obo/UBERON_0010366	A vasculature that is part of a conjunctiva.	
UBERON:0010367	conjunctival vein	biolink:AnatomicalEntity	mondo			conjunctival blood vessel	http://purl.obolibrary.org/obo/UBERON_0010367	A vein that is part of a conjunctiva.	
UBERON:0010364	dermal skeleton	biolink:AnatomicalEntity	mondo			exoskeleton|desmoskeleton|dermoskeleton|dermal skeletal system	http://purl.obolibrary.org/obo/UBERON_0010364	Skeletal subdivision that undergoes direct development and includes elements that either develop in association with the basement membrane of the ectoderm or are homologous with such elements; includes dermatocranium, components of the appendicular skeleton, teeth and tooth-like elements of the oropharynx, and integumentary elements.	
UBERON:0010365	odontoid tissue	biolink:AnatomicalEntity	mondo			dental tissue|tooth hard tissue|tooth substance|odontogenic tissue|tooth tissue|substance of tooth|portion of substance of tooth	http://purl.obolibrary.org/obo/UBERON_0010365	Skeletal tissue that is part of the exoskeleton and derived from an odontogenic papilla.	
NCBITaxon:27994	Theileriidae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_27994		
UBERON:0010359	pharyngeal arch mesenchyme from neural crest	biolink:AnatomicalEntity	mondo			neural crest derived arch mesenchyme|branchial arch mesenchyme from neural crest|arch mesenchyme from neural crest	http://purl.obolibrary.org/obo/UBERON_0010359	Mesenchyme that develops_from a neural crest and is part of a entire pharyngeal arch associated mesenchyme.	
UBERON:0010358	arch of centrum of vertebra	biolink:AnatomicalEntity	mondo			arcus vertebrae (vertebralis)|arch of vertebra|vertebra arch|vertebral arch	http://purl.obolibrary.org/obo/UBERON_0010358	An arch-shaped structure of the vertebra that extends dorsally (neural arch) or ventrally (hemal arch) from the vertebral centrum	
HP:0010549	Weakness due to upper motor neuron dysfunction	biolink:PhenotypicFeature	mondo	UMLS:C4021255		Paralysis due to lesions of the principle motor tracts	http://purl.obolibrary.org/obo/HP_0010549	Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons.	
HGNC:5042	HNRNPH2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5042		
HGNC:5044	HNRNPK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5044		
MONDO:0001510	lateral displacement of eye	biolink:Disease	mondo	DOID:12360|ICD10:H05.21|SCTID:48747004|ICD9:376.36|UMLS:C0155272		lateral displacement of globe	http://purl.obolibrary.org/obo/MONDO_0001510		DOID:12360|UMLS:C0155272|SNOMEDCT:48747004
NCBITaxon:62323	funestus subgroup	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_62323		
GO:1990542	mitochondrial transmembrane transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1990542	The process in which a solute is transported from one side of a membrane to the other into, out of or within a mitochondrion.	
CHEBI:76712	EC 4.2.* (C-O lyase) inhibitor	biolink:ChemicalSubstance	mondo			EC 4.2.* inhibitor|EC 4.2.* inhibitors|C-O lyase inhibitor|C-O lyase (EC 4.2.*) inhibitors|EC 4.2.* (C-O lyase) inhibitors|C-O lyase inhibitors|C-O lyase (EC 4.2.*) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76712	A lyase inhibitor which inhibits the action of a C-O lyase (EC 4.2.*.*).	
MONDO:0001514	prolapse of urethra	biolink:Disease	mondo	ICD9:618.03|ICD10:N81.0|UMLS:C0238502|ICD9:599.5|DOID:12369|SCTID:12068006|COHD:441906		urethrocele	http://purl.obolibrary.org/obo/MONDO_0001514	Prolapse of the urethral mucosa from the exterior urethral opening.	UMLS:C0238502|DOID:12369|SNOMEDCT:12068006|NCIT:C123256
MONDO:0001513	pulsating exophthalmos	biolink:Disease	mondo	ICD9:376.35|SCTID:2284002|ICD10:H05.26|UMLS:C0155271|DOID:12364			http://purl.obolibrary.org/obo/MONDO_0001513		SNOMEDCT:2284002|UMLS:C0155271|DOID:12364
MONDO:0001512	intermittent proptosis	biolink:Disease	mondo	ICD9:376.34|ICD10:H05.25|UMLS:C0155270|SCTID:49774006|DOID:12363		intermittent exophthalmos	http://purl.obolibrary.org/obo/MONDO_0001512		SNOMEDCT:49774006|DOID:12363|UMLS:C0155270
MONDO:0001511	thyrotoxic exophthalmos	biolink:Disease	mondo	ICD9:376.21|UMLS:C0155265|SCTID:19885005|COHD:440108|DOID:12362			http://purl.obolibrary.org/obo/MONDO_0001511		SNOMEDCT:19885005|UMLS:C0155265|DOID:12362
UBERON:0010355	ossification center	biolink:AnatomicalEntity	mondo			centrum ossificationis|ossification centre|center of ossification|centrum ossificationis	http://purl.obolibrary.org/obo/UBERON_0010355	The first step in ossification of the cartilage is that the cartilage cells, at the point where ossification is commencing and which is termed a ossification center, enlarge and arrange themselves in rows. The matrix in which they are imbedded increases in quantity, so that the cells become further separated from each other. A deposit of calcareous material now takes place in this matrix, between the rows of cells, so that they become separated from each other by longitudinal columns of calcified matrix, presenting a granular and opaque appearance. Here and there the matrix between two cells of the same row also becomes calcified, and transverse bars of calcified substance stretch across from one calcareous column to another. Thus there are longitudinal groups of the cartilage cells enclosed in oblong cavities, the walls of which are formed of calcified matrix which cuts off all nutrition from the cells; the cells, in consequence, atrophy, leaving spaces called the primary areolC&.	
NCBITaxon:62324	Anopheles funestus	organism taxon	mondo	GC_ID:1		African malaria mosquito	http://purl.obolibrary.org/obo/NCBITaxon_62324		
UBERON:0010349	otic capsule pre-cartilage condensation	biolink:AnatomicalEntity	mondo			otic capsule anlage	http://purl.obolibrary.org/obo/UBERON_0010349	A otic capsule endochondral element that is composed primarily of a pre-cartilage condensation.	
UBERON:0010347	6th arch mesenchyme from head mesenchyme	biolink:AnatomicalEntity	mondo			head mesenchyme derived arch 6 mesenchyme|branchial arch 6 mesenchyme from head mesenchyme|pharyngeal arch 6 mesenchyme from head mesenchyme	http://purl.obolibrary.org/obo/UBERON_0010347	Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a 6th arch mesenchyme.	
HP:0010535	Sleep apnea	biolink:PhenotypicFeature	mondo	MSH:D012891|UMLS:C0037315|SNOMEDCT_US:73430006		Pauses in breathing while sleeping|Sleep apnoea	http://purl.obolibrary.org/obo/HP_0010535	An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep.	
MONDO:0001507	viral labyrinthitis	biolink:Disease	mondo	ICD9:386.35|COHD:75555|UMLS:C0155508|SCTID:409711008|DOID:12357		Viruses caused labyrinthitis|epidemic vertigo (finding)|Viruses labyrinthitis|epidemic vertigo	http://purl.obolibrary.org/obo/MONDO_0001507	An labyrinthitis caused by infection with Viruses.	DOID:12357|UMLS:C0155508|SNOMEDCT:409711008
MONDO:0001506	prostatocystitis	biolink:Disease	mondo	ICD10:N41.3|SCTID:67685000|ICD9:601.3|DOID:12355|UMLS:C0156291			http://purl.obolibrary.org/obo/MONDO_0001506		UMLS:C0156291|DOID:12355|SNOMEDCT:67685000
MONDO:0001505	alcoholic hepatitis	biolink:Disease	mondo	SCTID:235875008|DOID:12351|UMLS:C0001306|NCIT:C34684|ICD10:K70.1|ICD9:571.1|COHD:201343|CSP:1754-6978|MESH:D006519		acute alcoholic Hepatitis|acute alcoholic liver disease|alcoholic Hepatitis|alcoholic hepatitis|acute alcoholic hepatitis	http://purl.obolibrary.org/obo/MONDO_0001505	Acute hepatitis resulting from ingestion of alcohol.	UMLS:C0001306|NCIT:C34684|DOID:12351|MESH:D006519|SNOMEDCT:235875008
MONDO:0001504	fetishism	biolink:Disease	mondo	DOID:1235|NCIT:C94353|MESH:D005329|ICD9:302.81|SCTID:59174009|ICD10:F65.0			http://purl.obolibrary.org/obo/MONDO_0001504	A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the use of nonliving objects such as women's wearing apparel (the "fetish").	NCIT:C94353|SNOMEDCT:59174009|DOID:1235|MESH:D005329
CHEBI:76710	EC 4.* (lyase) inhibitor	biolink:ChemicalSubstance	mondo			EC 4.* inhibitors|EC 4.* inhibitor|lyase (EC 4.*) inhibitor|EC 4.*.*.* inhibitors|lyase inhibitors|EC 4.*.*.* inhibitor|lyase inhibitor|EC 4.* (lyase) inhibitors|lyase (EC 4.*) inhibitorS	http://purl.obolibrary.org/obo/CHEBI_76710	An enzyme inhibitor which interferes with the action of a lyase (EC 4.*.*.*). Lyases are enzymes cleaving C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation.	
OIO:hasAlternativeId	has_alternative_id	biolink:OntologyClass	mondo				http://www.geneontology.org/formats/oboInOwl#hasAlternativeId		
MONDO:0001509	endocrine exophthalmos	biolink:Disease	mondo	UMLS:C0155264|SCTID:276177000|DOID:12359|ICD9:376.2			http://purl.obolibrary.org/obo/MONDO_0001509		SNOMEDCT:276177000|DOID:12359|UMLS:C0155264
MONDO:0001508	patulous eustachian tube	biolink:Disease	mondo	ICD10:H69.0|UMLS:C0155434|GARD:0010812|ICD10:H69.00|ICD9:381.7|SCTID:30280005|DOID:12358			http://purl.obolibrary.org/obo/MONDO_0001508	A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection.	SNOMEDCT:30280005|UMLS:C0155434|DOID:12358
MONDO:0001565	abnormal retinal correspondence	biolink:Disease	mondo	ICD9:368.34|ICD10:H53.31|UMLS:C0155010|SCTID:79195003|DOID:12668			http://purl.obolibrary.org/obo/MONDO_0001565		DOID:12668|SNOMEDCT:79195003|UMLS:C0155010
MONDO:0001564	binocular vision disease	biolink:Disease	mondo	ICD9:368.30|NCIT:C34422|ICD10:H53.30|SCTID:83275001|DOID:12667		binocular vision disorder|simultaneous visual perception without fusion	http://purl.obolibrary.org/obo/MONDO_0001564	Any inability to efficiently utilize and/or sustain binocular vision.	DOID:12667|SNOMEDCT:83275001|NCIT:C34422
CHEBI:76725	EC 1.* (oxidoreductase) inhibitor	biolink:ChemicalSubstance	mondo			EC 1.* (oxidoreductase) inhibitors|oxidoreductase inhibitors|oxidoreductase (EC 1.*) inhibitors|EC 1.* inhibitor|EC 1.* inhibitors|oxidoreductase inhibitor|oxidoreductase (EC 1.*) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76725	An enzyme inhibitor which interferes with the action of an oxidoreductase (EC 1.*.*.*).	
MONDO:0001563	vestibulocochlear nerve disease	biolink:Disease	mondo	NCIT:C27207|ICD9:388.5|ICD10:H93.3|UMLS:C0001163|ICD10:H93.3X|MESH:D000160|SCTID:77949003|DOID:12657		acoustic nerve disorder|disorder of vestibulocochlear nerve|disorder of the vestibulocochlear nerve|disorder of eighth nerve|disorder of acoustic nerve|vestibulocochlear nerve disease|vestibulocochlear nerve disorder|disorder of acoustovestibular nerve|disease or disorder of vestibulocochlear nerve|disease of vestibulocochlear nerve|acoustic nerve disease|vestibulocochlear nerve disease or disorder|acoustic nerve disorder NOS	http://purl.obolibrary.org/obo/MONDO_0001563	A disease involving the vestibulocochlear nerve.	UMLS:C0001163|MESH:D000160|SNOMEDCT:77949003|NCIT:C27207|DOID:12657
MONDO:0001562	displacement of cardia through esophageal hiatus	biolink:Disease	mondo	ICD9:750.6|DOID:12641|ICD10:Q40.1|SCTID:47028006|COHD:198246		congenital hiatus hernia	http://purl.obolibrary.org/obo/MONDO_0001562		SNOMEDCT:47028006|DOID:12641
MONDO:0001569	acoustic neuroma	biolink:Disease	mondo	DOID:12689|MESH:D009464|CSP:2012-6947|NCIT:C3276|SCTID:126949007|GARD:0000223	gard_rare	acoustic Neuroma|acoustic neurilemmoma|acoustic tumor|vestibular neurilemmoma|acoustic schwannoma|neurinoma of the acoustic nerve|neurilemoma, acoustic|vestibular schwannoma|acoustic neurinoma|Neuroma, acoustic|acoustic neurilemoma	http://purl.obolibrary.org/obo/MONDO_0001569	A type of benign brain tumor that begins in the Schwann cells, which produce the myelin that protects the acoustic nerve - the nerve of hearing.	DOID:12689|NCIT:C3276|SNOMEDCT:126949007|MESH:D009464
CHEBI:76729	EC 1.3.* (oxidoreductase acting on donor CH-CH group) inhibitor	biolink:ChemicalSubstance	mondo			inhibitors of oxidoreductase acting on CH-CH group of donor|EC 1.3.* (oxidoreductase acting on donor CH-CH group) inhibitors|oxidoreductase acting on donor CH-CH group (EC 1.3.*) inhibitors|inhibitor of oxidoreductase acting on CH-CH group of donor|EC 1.3.* inhibitor|EC 1.3.* inhibitors|oxidoreductase acting on donor CH-CH group (EC 1.3.*) inhibitor|inhibitor of oxidoreductase acting on CH-CH group of donors|inhibitors of oxidoreductase acting on CH-CH group of donors|oxidoreductase acting on donor CH-CH group inhibitors|oxidoreductase acting on donor CH-CH group inhibitor	http://purl.obolibrary.org/obo/CHEBI_76729	An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on the CH-CH group of donors (EC 1.3.*.*).	
MONDO:0001568	mixed receptive-expressive language disorder	biolink:Disease	mondo	ICD9:315.32|DOID:12685|ICD10:F80.2|NCIT:C92563|SCTID:25766007|COHD:441277			http://purl.obolibrary.org/obo/MONDO_0001568	A disorder characterized by an impairment in the development of an individual's expressive and receptive language capabilities which is in contrast to his/her nonverbal intellect. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult).	DOID:12685|SNOMEDCT:25766007|NCIT:C92563
MONDO:0001567	nephrocalcinosis	biolink:Disease	mondo	MESH:D009397|ICD9:275.49|NCIT:C84918|GARD:0007177|UMLS:C0027709|SCTID:48638002|DOID:12679	gard_rare	hypercalcemic nephropathy	http://purl.obolibrary.org/obo/MONDO_0001567	Nephrocalcinosis is a disorder that occurs when too much calcium is deposited in the kidneys. It commonly occurs in premature infants. Individuals may not have symptoms or may have symptoms related to thecondition causing nephrocalcinosis. If kidney stones are present, symptoms may include blood in the urine, fever and chills, nausea and vomiting, and severe pain in the belly area, sides of the back (flank), groin, or testicles. Later symptoms may be associated with chronic kidney failure. It may be caused by use of certain medications or supplements, infection, or any condition that leads to high levels of calcium in the blood or urine including hyperparathyroidism, renal tubular acidosis, Alport syndrome, Bartter syndrome,and a variety of other conditions. Some of the underlying disorders that can cause nephrocalcinosis are genetic, with the inheritance pattern depending on the specific disorder. Treatment differs depending on the cause of nephrocalcinosis and often aims to prevent more calcium from being deposited in the kidneys.	DOID:12679|NCIT:C84918|UMLS:C0027709|MESH:D009397|SNOMEDCT:48638002
CHEBI:76726	EC 1.1.* (oxidoreductase acting on donor CH-OH group) inhibitor	biolink:ChemicalSubstance	mondo			EC 1.1.* inhibitors|inhibitor of oxidoreductase acting on CH-OH group of donors|inhibitors of oxidoreductase acting on CH-OH group of donors|inhibitors of oxidoreductase acting on CH-OH group of donor|inhibitor of oxidoreductase acting on CH-OH group of donor|EC 1.1.* inhibitor|oxidoreductase acting on donor CH-OH group (EC 1.1.*) inhibitor|oxidoreductase acting on donor CH-OH group inhibitor|oxidoreductase acting on donor CH-OH group inhibitors|oxidoreductase acting on donor CH-OH group (EC 1.1.*) inhibitors|EC 1.1.* (oxidoreductase acting on donor CH-OH group) inhibitors	http://purl.obolibrary.org/obo/CHEBI_76726	An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on the CH-OH group of donors (EC 1.1.*.*).	
MONDO:0001566	hypercalcemia disease	biolink:Disease	mondo	ICD9:275.42|COHD:435511|SCTID:66931009|ICD10:E83.52|MESH:D006934|HP:0003072|NCIT:C3112|UMLS:C0020437|DOID:12678		hypercalcemia	http://purl.obolibrary.org/obo/MONDO_0001566	Abnormally high concentration of calcium in the peripheral blood.	SNOMEDCT:66931009|DOID:12678|MESH:D006934|NCIT:C3112|UMLS:C0020437
MONDO:0013549	N-acetylaspartate deficiency	biolink:Disease	mondo	UMLS:C3279716|OMIM:614063		naa deficiency|N-acetylaspartate deficiency; NACED|NACED|hypoacetylaspartia|N-acetylaspartate deficiency	http://purl.obolibrary.org/obo/MONDO_0013549		UMLS:C3279716|http://identifiers.org/omim/614063
MONDO:0001561	pyloric stenosis (disease)	biolink:Disease	mondo	MESH:D011707|ICD10:K31.1|HP:0002021|SCTID:367403001|DOID:12639|NCIT:C34966|DOID:3122|EFO:1000947|MedDRA:10062499|MESH:D017219		gastric outlet obstruction|GOO|pyloric stenosis|gastric outflow obstruction	http://purl.obolibrary.org/obo/MONDO_0001561	Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer.	SNOMEDCT:367403001|DOID:3122|NCIT:C34966|MESH:D011707|MESH:D017219|DOID:12639
MONDO:0001560	hypertrophic pyloric stenosis	biolink:Disease	mondo	EFO:0004707|COHD:192433|DOID:12638|ICD9:750.5|NCIT:C98952|ICD10:Q40.0|SCTID:48644003|OMIMPS:179010|DC:0000381|MESH:D046248		congenital pyloric stenosis|infantile Hypertrophy of the pylorus|congenital constriction of the pylorus|infantile stricture of the pylorus|infantile hypertrophic pyloric stenosis|IHPS|congenital hypertrophic pyloric stenosis|congenital or infantile stricture of pylorus|infantile pyloric stenosis|congenital Hypertrophy of the pylorus|infantile constriction of the pylorus|congenital stricture of the pylorus|pyloric stenosis, infantile	http://purl.obolibrary.org/obo/MONDO_0001560	An abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration.	NCIT:C98952|SNOMEDCT:48644003|DOID:12638|MESH:D046248
MONDO:0013554	psoriasis 13, susceptibility to	biolink:Disease	mondo	DOID:0111287|OMIM:614070	predisposition	PSORS13|susceptibility to psoriasis 13|TRAF3IP2 psoriasis|psoriasis 13, susceptibility to; PSORS13|psoriasis caused by mutation in TRAF3IP2|psoriasis 13, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0013554	Any psoriasis in which the cause of the disease is a mutation in the TRAF3IP2 gene.	http://identifiers.org/omim/614070|DOID:0111287
MONDO:0013555	Hermansky-Pudlak syndrome 3	biolink:Disease	mondo	UMLS:C3888001|OMIM:614072|DOID:0060541		Hermansky-Pudlak syndrome type 3|Hermansky-Pudlak syndrome caused by mutation in HPS3|HPS3|Hermansky-Pudlak syndrome 3|HPS3 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome 3; HPS3	http://purl.obolibrary.org/obo/MONDO_0013555	Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene.	DOID:0060541|http://identifiers.org/omim/614072|UMLS:C3888001
MONDO:0013552	hereditary spastic paraplegia 52	biolink:Disease	mondo	UMLS:C3279743|DOID:0110804|OMIM:614067		spastic paraplegia 52, autosomal recessive; SPG52|hereditary spastic paraplegia caused by mutation in AP4S1|hereditary spastic paraplegia type 52|cerebral palsy, spastic quadriplegic, 6, formerly|cerebral palsy, spastic quadriplegic, 6|autosomal recessive spastic paraplegia 52|spastic paraplegia 52, autosomal recessive|AP4S1 hereditary spastic paraplegia|CPSQ6|SPG52|spastic quadriplegic cerebral palsy 6	http://purl.obolibrary.org/obo/MONDO_0013552	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4S1 gene.	http://identifiers.org/omim/614067|UMLS:C3279743|DOID:0110804
MONDO:0013553	immunodeficiency-centromeric instability-facial anomalies syndrome 2	biolink:Disease	mondo	OMIM:614069|DOID:0090009|UMLS:C3279748|ICD10:D84.8		ICF2|immunodeficiency-centromeric instability-facial anomalies syndrome type 2|ZBTB24 immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency-centromeric instability-facial anomalies syndrome 2|immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in ZBTB24|immunodeficiency-centromeric instability-Facial anomalies syndrome type 2|ICF syndrome 2|immunodeficiency-centromeric instability-facial anomalies syndrome 2; ICF2	http://purl.obolibrary.org/obo/MONDO_0013553	Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the ZBTB24 gene.	http://identifiers.org/omim/614069|DOID:0090009|UMLS:C3279748
MONDO:0013558	Hermansky-Pudlak syndrome 6	biolink:Disease	mondo	DOID:0060544|UMLS:C3888007|OMIM:614075|NCIT:C150369		Hermansky-Pudlak syndrome caused by mutation in HPS6|HPS6|Hermansky-Pudlak syndrome type 6|HPS6 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome 6; HPS6|Hermansky-Pudlak syndrome 6	http://purl.obolibrary.org/obo/MONDO_0013558	Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS6 gene.	DOID:0060544|http://identifiers.org/omim/614075|UMLS:C3888007|NCIT:C150369
MONDO:0013559	Hermansky-Pudlak syndrome 7	biolink:Disease	mondo	UMLS:C3279756|ICD10:E70.3|DOID:0060545|OMIM:614076|Orphanet:231531	ordo_clinical_subtype	DTNBP1 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome caused by mutation in DTNBP1|Hermansky-Pudlak syndrome type 7|HPS7|Hermansky-Pudlak syndrome 7; HPS7|Hermansky-Pudlak syndrome 7	http://purl.obolibrary.org/obo/MONDO_0013559	Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene.	DOID:0060545|http://identifiers.org/omim/614076|ORPHA:231531|UMLS:C3279756
MONDO:0013556	Hermansky-Pudlak syndrome 4	biolink:Disease	mondo	UMLS:C3484357|OMIM:614073|DOID:0060542		Hermansky-Pudlak syndrome type 4|Hermansky-Pudlak syndrome caused by mutation in HPS4|HPS4|HPS4 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome 4|Hermansky-Pudlak syndrome 4; HPS4	http://purl.obolibrary.org/obo/MONDO_0013556	Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS4 gene.	DOID:0060542|http://identifiers.org/omim/614073|UMLS:C3484357
MONDO:0013557	Hermansky-Pudlak syndrome 5	biolink:Disease	mondo	OMIM:614074|UMLS:C3888004|DOID:0060543		Hermansky-Pudlak syndrome caused by mutation in HPS5|HPS5|Hermansky-Pudlak syndrome type 5|HPS5 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome 5|Hermansky-Pudlak syndrome 5; HPS5	http://purl.obolibrary.org/obo/MONDO_0013557	Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene.	DOID:0060543|http://identifiers.org/omim/614074|UMLS:C3888004
MONDO:0001559	perineocele	biolink:Disease	mondo	DOID:12637|ICD9:618.05|ICD10:N81.81			http://purl.obolibrary.org/obo/MONDO_0001559		DOID:12637
MONDO:0013550	distal myopathy with posterior leg and anterior hand involvement	biolink:Disease	mondo	UMLS:C3279722|SCTID:733489002|ICD10:G71.0|OMIM:614065|Orphanet:63273|UMLS:C4518807	ordo_disease	myopathy, distal, 4|MPD4|myopathy, distal, 4; MPD4|myopathy, distal, type 4|Williams distal myopathy|distal ABD-filaminopathy	http://purl.obolibrary.org/obo/MONDO_0013550	Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs.	ORPHA:63273|http://identifiers.org/omim/614065|SNOMEDCT:733489002|UMLS:C4518807|UMLS:C3279722
MONDO:0013551	hereditary spastic paraplegia 47	biolink:Disease	mondo	NCIT:C164224|DOID:0110799|OMIM:614066|UMLS:C3279738		spastic paraplegia 47, autosomal recessive|CPSQ5|spastic paraplegia 47, autosomal recessive; SPG47|cerebral palsy, spastic quadriplegic, 5, formerly|cerebral palsy, spastic quadriplegic, 5|AP4B1 hereditary spastic paraplegia|spastic quadriplegic cerebral palsy 5|SPG47|autosomal recessive spastic paraplegia 47|hereditary spastic paraplegia type 47|hereditary spastic paraplegia caused by mutation in AP4B1	http://purl.obolibrary.org/obo/MONDO_0013551	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene.	http://identifiers.org/omim/614066|NCIT:C164224|UMLS:C3279738|DOID:0110799
MONDO:0001576	telangiectasis	biolink:Disease	mondo	DOID:1272|NCIT:C28194|SCTID:247479008|MESH:D013684|UMLS:C0039446		telangiectasia	http://purl.obolibrary.org/obo/MONDO_0001576	Local dilatation of small vessels resulting in red discoloration of the skin or mucous membranes.	UMLS:C0039446|SNOMEDCT:247479008|MESH:D013684|NCIT:C28194|DOID:1272
CHEBI:76736	EC 1.9.* (oxidoreductase acting on donor heme group) inhibitor	biolink:ChemicalSubstance	mondo			EC 1.9.* (oxidoreductase acting on a heme group of donors) inhibitor|EC 1.9.* (oxidoreductase acting on a heme group of donors) inhibitors|oxidoreductase acting on a heme group of donors (EC 1.9.*) inhibitors|EC 1.9.* inhibitors|EC 1.9.* inhibitor|EC 1.9.* (oxidoreductase acting on donor heme group) inhibitors|oxidoreductase acting on a heme group of donors (EC 1.9.*) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76736	An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on a heme group of donors (EC 1.9.*.*).	
MONDO:0001575	chronic gonococcal salpingitis	biolink:Disease	mondo	COHD:193700|ICD9:098.37|UMLS:C0153208|SCTID:53529004|DOID:12718		gonococcal salpingitis|gonococcal salpingitis, chronic	http://purl.obolibrary.org/obo/MONDO_0001575	Chronic form of gonococcal salpingitis.	UMLS:C0153208|SNOMEDCT:53529004|DOID:12718
MONDO:0001574	capillary disease	biolink:Disease	mondo	DOID:1271|ICD10:I78.9|UMLS:C0155765|ICD9:448.9|ICD9:448|ICD10:I78|SCTID:58729003		disorder of capillary|capillary disease|disease or disorder of capillary|disease of capillaries|disease of capillary|capillary disease or disorder	http://purl.obolibrary.org/obo/MONDO_0001574	A disease involving a capillary.	SNOMEDCT:58729003|DOID:1271|UMLS:C0155765
MONDO:0001573	obsolete Friedreich ataxia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001573		
MONDO:0001579	corneal staphyloma	biolink:Disease	mondo	DOID:12753|UMLS:C0152440|SCTID:52476003|ICD9:371.73|ICD10:H18.72			http://purl.obolibrary.org/obo/MONDO_0001579		DOID:12753|SNOMEDCT:52476003|UMLS:C0152440
MONDO:0001578	hernia of ovary and fallopian tube	biolink:Disease	mondo	DOID:12735|ICD9:620.4|ICD10:N83.4			http://purl.obolibrary.org/obo/MONDO_0001578		DOID:12735
MONDO:0001577	respiratory syncytial virus infectious disease	biolink:Disease	mondo	EFO:1001413|NCIT:C3354|SCTID:55735004|UMLS:C0035235|MESH:D018357|DOID:1273		Human respiratory syncytial virus infection|respiratory syncytial virus infection|infections, Human respiratory syncytial virus	http://purl.obolibrary.org/obo/MONDO_0001577	Infection with the respiratory syncytial virus, an RNA virus of the genus Pneumovirus, in the family Paramyxoviridae, which is characterized by the formation of syncytia in tissue culture. It causes minor respiratory infection with rhinitis and cough in adults, but is capable of causing severe bronchitis and bronchopneumonia in young children.	NCIT:C3354|SNOMEDCT:55735004|UMLS:C0035235|DOID:1273|MESH:D018357
CHEBI:76738	EC 1.11.* (oxidoreductase acting on peroxide as donors) inhibitor	biolink:ChemicalSubstance	mondo			EC 1.11.* (oxidoreductase acting on peroxide as donors) inhibitors|oxidoreductase acting on peroxide as donors (EC 1.11.*) inhibitors|EC 1.11.* inhibitor|oxidoreductases acting on peroxide as donors (EC 1.11.*) inhibitors|EC 1.11.* (oxidoreductases acting on peroxide as donors) inhibitors|oxidoreductases acting on peroxide as donors (EC 1.11.*) inhibitor|EC 1.11.* (oxidoreductases acting on peroxide as donors) inhibitor|EC 1.11.* inhibitors|oxidoreductase acting on peroxide as donors (EC 1.11.*) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76738	An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on peroxide as donors (EC 1.11.*.*).	
MONDO:0013538	alpha-2-macroglobulin deficiency	biolink:Disease	mondo	UMLS:C3279661|OMIM:614036|MESH:C566304		alpha-2-macroglobulin deficiency|A2MD|ALPHA-2-macroglobulin deficiency; A2MD	http://purl.obolibrary.org/obo/MONDO_0013538		UMLS:C3279661|http://identifiers.org/omim/614036|MESH:C566304
MONDO:0013539	hypotonia-failure to thrive-microcephaly syndrome	biolink:Disease	mondo	OMIM:614037|Orphanet:79507|SCTID:717185008|MESH:C565439|UMLS:C3279662	ordo_disease	leukotriene C4 synthase deficiency|LTC4 synthase deficiency	http://purl.obolibrary.org/obo/MONDO_0013539	Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.	MESH:C565439|UMLS:C3279662|ORPHA:79507|http://identifiers.org/omim/614037|SNOMEDCT:717185008
MONDO:0001572	leiomyoma	biolink:Disease	mondo	ICDO:8890/0|MESH:D007889|SCTID:146801000119103|ICD9:215.9|UMLS:C0023267|DOID:127|NCIT:C3157		leiomyomatous tumor|leiomyoma|fibroid|fibroid tumor|leiomyomatous neoplasm|leiomyomatous neoplasm (morphologic abnormality)|leiomyoma, benign|fibroid neoplasm	http://purl.obolibrary.org/obo/MONDO_0001572	A well-circumscribed benign smooth muscle neoplasm characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	NCIT:C3157|DOID:127|SNOMEDCT:146801000119103|UMLS:C0023267|MESH:D007889
MONDO:0001571	gynecomastia	biolink:Disease	mondo	NCIT:C3073|SCTID:4754008|HP:0000771|MESH:D006177|UMLS:C0018418|DOID:12698|ICD10:N62		male organism hypertrophy of breast|hypertrophy of breast of male organism	http://purl.obolibrary.org/obo/MONDO_0001571	Development of breast tissue in males.	NCIT:C3073|SNOMEDCT:4754008|MESH:D006177|UMLS:C0018418|DOID:12698
MONDO:0001570	obsolete locked-in syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001570		
MONDO:0013543	trypsinogen deficiency	biolink:Disease	mondo	OMIM:614044|SCTID:190953007|UMLS:C0268417|ICD9:277.89		trypsinogen deficiency	http://purl.obolibrary.org/obo/MONDO_0013543		SNOMEDCT:190953007|http://identifiers.org/omim/614044|UMLS:C0268417
MONDO:0013544	atrial fibrillation, familial, 11	biolink:Disease	mondo	UMLS:C3279693|OMIM:614049		atrial fibrillation, familial, 11|atrial fibrillation, familial, type 11|familial atrial fibrillation caused by mutation in GJA5|ATFB11|atrial fibrillation, familial, 11; ATFB11|GJA5 familial atrial fibrillation	http://purl.obolibrary.org/obo/MONDO_0013544	Any familial atrial fibrillation in which the cause of the disease is a mutation in the GJA5 gene.	http://identifiers.org/omim/614049|UMLS:C3279693
MONDO:0013541	complex cortical dysplasia with other brain malformations 1	biolink:Disease	mondo	ICD10:Q04.3|GARD:0013032|DOID:0090137|UMLS:CN203402|Orphanet:300570|OMIM:614039	ordo_disease	complex cortical dysplasia with other brain malformations caused by mutation in TUBB3|complex cortical dysplasia with other brain malformations type 1|cortical dysplasia, complex, with other brain malformations 1|cortical dysplasia, complex, with other brain malformations 1; CDCBM1|CDCBM1|TUBB3 complex cortical dysplasia with other brain malformations|cortical dysplasia, Complex, with Other brain malformations type 1|cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	http://purl.obolibrary.org/obo/MONDO_0013541	Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB3 gene.	ORPHA:300570|http://identifiers.org/omim/614039|UMLS:CN203402|DOID:0090137
MONDO:0013542	Moyamoya disease 5	biolink:Disease	mondo	OMIM:614042|UMLS:C3279690		Moyamoya disease caused by mutation in ACTA2|MYMY5|ACTA2 Moyamoya disease|Moyamoya disease type 5|Moyamoya disease 5|Moyamoya disease 5; MYMY5	http://purl.obolibrary.org/obo/MONDO_0013542	Any Moyamoya disease in which the cause of the disease is a mutation in the ACTA2 gene.	http://identifiers.org/omim/614042|UMLS:C3279690
MONDO:0013547	mitochondrial complex V (ATP synthase) deficiency nuclear type 3	biolink:Disease	mondo	ICD10:E88.8|OMIM:614053|DOID:0060332|UMLS:C3279708		mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 3|mitochondrial complex V (ATP synthase) deficiency, nuclear type 3; MC5DN3|mitochondrial complex V (ATP synthase) deficiency, nuclear type 3|ATP5F1E mitochondrial proton-transporting ATP synthase complex deficiency|MC5DN3|mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATP5F1E|mitochondrial Complex 5 (ATP synthase) deficiency, Atp5E type	http://purl.obolibrary.org/obo/MONDO_0013547	Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATP5F1E gene.	DOID:0060332|http://identifiers.org/omim/614053|UMLS:C3279708
MONDO:0013548	acetyl-CoA acetyltransferase-2 deficiency	biolink:Disease	mondo	MESH:C536005|UMLS:C0342735|OMIM:614055|GARD:0009154		ACETYL-CoA acetyltransferase-2 deficiency; ACAT2D|Acetyl CoA acetyltransferase 2 deficiency|ACAT2|Acat2 deficiency|ACAT2D|Acetocoenzyme A acetyltransferase 2|acetyl-CoA acetyltransferase-2 deficiency|acetoacetyl CoA thiolase, cytosolic	http://purl.obolibrary.org/obo/MONDO_0013548		UMLS:C0342735|http://identifiers.org/omim/614055|MESH:C536005
MONDO:0013545	atrial fibrillation, familial, 12	biolink:Disease	mondo	UMLS:C3279695|OMIM:614050		ATFB12|atrial fibrillation, familial, 12; ATFB12|familial atrial fibrillation caused by mutation in ABCC9|atrial fibrillation, familial, 12|atrial fibrillation, familial, type 12|ABCC9 familial atrial fibrillation	http://purl.obolibrary.org/obo/MONDO_0013545	Any familial atrial fibrillation in which the cause of the disease is a mutation in the ABCC9 gene.	http://identifiers.org/omim/614050|UMLS:C3279695
MONDO:0013546	mitochondrial complex V (ATP synthase) deficiency nuclear type 2	biolink:Disease	mondo	DOID:0060331|OMIM:614052|MESH:C567528|GARD:0012965|SCTID:718212006|ICD10:G71.3|Orphanet:1194	ordo_disease	mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 2|mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency|mitochondrial complex V (ATP synthase) deficiency, nuclear type 2; MC5DN2|mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency|TMEM70 defect|mitochondrial Complex 5 (ATP synthase) deficiency, Tmem70 type|mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency|mitochondrial complex V (ATP synthase) deficiency, nuclear type 2|MC5DN2|3-MGCA type IV (3-MGCA-4) (formerly)|encephalocardiomyopathy, mitochondrial, neonatal, due to ATP synthase deficiency|TMEM70-related mitochondrial encephalo-cardio-myopathy|neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency	http://purl.obolibrary.org/obo/MONDO_0013546	A mitochondrial complex deficiency characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.	DOID:0060331|SNOMEDCT:718212006|http://identifiers.org/omim/614052|ORPHA:1194|MESH:C567528
MONDO:0025518	aspirin allergy	biolink:Disease	mondo	DOID:0040002|SCTID:293586001|ICD9:995.27|IEDB:RV		allergy of acetylsalicylic acid|ASA allergy|acetylsalicylic acid allergy|acetylsalicylic acid allergic disease	http://purl.obolibrary.org/obo/MONDO_0025518	A allergic disease involving a acetylsalicylic acid.	SNOMEDCT:293586001|DOID:0040002
MONDO:0025517	shrimp allergy	biolink:Disease	mondo	DOID:0040001		shrimp food product allergic disease|allergy of shrimp food product	http://purl.obolibrary.org/obo/MONDO_0025517	A allergic disease involving a shrimp food product.	DOID:0040001
CHEBI:76731	EC 1.5.* (oxidoreductase acting on donor CH-NH group) inhibitor	biolink:ChemicalSubstance	mondo			EC 1.5.* inhibitors|inhibitor of oxidoreductase acting on CH-NH group of donor|EC 1.5.* (oxidoreductase acting on donor CH-NH group) inhibitors|oxidoreductase acting on donor CH-NH group (EC 1.5.*) inhibitors|oxidoreductase acting on donor CH-NH group (EC 1.5.*) inhibitor|inhibitor of oxidoreductase acting on CH-NH group of donors|EC 1.5.* inhibitor|inhibitors of oxidoreductase acting on CH-NH group of donors|inhibitors of oxidoreductase acting on CH-NH group of donor	http://purl.obolibrary.org/obo/CHEBI_76731	An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on the CH-NH group of donors (EC 1.5.*.*).	
MONDO:0013540	deafness-lymphedema-leukemia syndrome	biolink:Disease	mondo	GARD:0013030|SCTID:700057001|OMIM:614038|ICD10:D46.7|UMLS:C3279664|Orphanet:3226|ICD9:757.0	ordo_malformation_syndrome|gard_rare	Emberger syndrome|lymphedema, primary, with myelodysplasia	http://purl.obolibrary.org/obo/MONDO_0013540	Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.	SNOMEDCT:700057001|http://identifiers.org/omim/614038|ORPHA:3226|UMLS:C3279664
MONDO:0025510	pythiosis	biolink:Disease	mondo	UMLS:C0276912|MESH:D058968|GARD:0011989|EFO:1001410		pythium insidiosum infection|human pythiosis	http://purl.obolibrary.org/obo/MONDO_0025510	A granulomatous disease caused by the aquatic organism pythium insidiosum and occurring primarily in horses, cattle, dogs, cats, fishes, and rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial.	UMLS:C0276912|MESH:D058968
MONDO:0001543	lesion of sciatic nerve	biolink:Disease	mondo	ICD10:G57.0|ICD9:355.0|SCTID:367137004|COHD:372888|UMLS:C0154748|ICD10:G57.00|DOID:12528		sciatic nerve peripheral nerve lesion|peripheral nerve lesion of sciatic nerve	http://purl.obolibrary.org/obo/MONDO_0001543	A peripheral nerve lesion that involves the sciatic nerve.	DOID:12528|UMLS:C0154748|SNOMEDCT:367137004
MONDO:0001542	common peroneal nerve lesion	biolink:Disease	mondo	UMLS:C0270909|ICD10:G57.3|SCTID:399107008|COHD:437262|ICD10:G57.30|DOID:12527|ICD9:355.3		peripheral nerve lesion of common fibular nerve|common fibular nerve peripheral nerve lesion	http://purl.obolibrary.org/obo/MONDO_0001542	A peripheral nerve lesion that involves the common fibular nerve.	DOID:12527|SNOMEDCT:399107008|UMLS:C0270909
MONDO:0001541	plantar nerve lesion	biolink:Disease	mondo	DOID:12524|COHD:138148|SCTID:193148004|UMLS:C0154752|ICD9:355.6|ICD10:G57.6|ICD10:G57.60		lesion of plantar nerve, NOS|peripheral nerve lesion of plantar nerve|plantar nerve peripheral nerve lesion|lesion of plantar nerve	http://purl.obolibrary.org/obo/MONDO_0001541	A peripheral nerve lesion that involves the plantar nerve.	DOID:12524|UMLS:C0154752|SNOMEDCT:193148004
MONDO:0025512	type II hypersensitivity reaction disease	biolink:Disease	mondo	EFO:0005809		type II hypersensitivity disease|disorder of type II hypersensitivity|disorder of type II hypersensitivity	http://purl.obolibrary.org/obo/MONDO_0025512	A disease that has its basis in the disruption of type II hypersensitivity.	
MONDO:0025511	inherited neuroendocrine tumor	biolink:Disease	mondo	UMLS:CN202530|Orphanet:271847	ordo_group_of_disorders	hereditary neuroendocrine neoplasm|genetic neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0025511	An instance of neuroendocrine neoplasm that is caused by an inherited modification of the individual's genome.	ORPHA:271847|UMLS:CN202530
MONDO:0001540	bagassosis	biolink:Disease	mondo	NCIT:C34409|DOID:12522|SCTID:67242002|ICD10:J67.1|UMLS:C0004681|ICD9:495.1		bagasse extrinsic allergic alveolitis|extrinsic allergic alveolitis from bagasse|sugar cane worker pneumonitis	http://purl.obolibrary.org/obo/MONDO_0001540	An occupational lung disorder caused by inhalation of bagasse dust. In the acute phase, it manifests as cough, dyspnea, fever, chills, and weakness. Chronic exposure may lead to interstitial lung fibrosis.	DOID:12522|UMLS:C0004681|SNOMEDCT:67242002|NCIT:C34409
MONDO:0025514	livedoid vasculopathy	biolink:Disease	mondo	Orphanet:542643|GARD:0012784|DOID:0040099|UMLS:C0343081|ICD9:709.1|SCTID:238762002|ICD10CM:L95.0|ICD9CM:709.1|ICD10:L95.0	gard_rare	livedo reticularis with summer ulcerations|livedo vasculitis|livedoid vasculopathy|idiopathic atrophic blanche|white atrophy|livedo reticularis with winter ulcerations|livedoid vasculitis|segmental hyalinizing vasculopathy	http://purl.obolibrary.org/obo/MONDO_0025514	Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring (atrophie blanche) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur.Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, tender, irregular ulcers. Symptoms tend to worsen in the winter and summer months, and affect women more often then men. Livedoid vasculopathy may occur alone or in combination with another condition, such as lupus or thrombophilia.	ORPHA:542643|SNOMEDCT:238762002|DOID:0040099|UMLS:C0343081
MONDO:0001547	atrophic nonflaccid tympanic membrane	biolink:Disease	mondo	DOID:12546|ICD9:384.82|SCTID:72052003|COHD:374050|ICD10:H73.82|UMLS:C0155471			http://purl.obolibrary.org/obo/MONDO_0001547		UMLS:C0155471|SNOMEDCT:72052003|DOID:12546
MONDO:0001546	hypermobility of coccyx	biolink:Disease	mondo	UMLS:C0158295|DOID:12537|SCTID:202809009|ICD9:724.71		hypermobility of the coccyx|coccygeal hypermobility syndrome	http://purl.obolibrary.org/obo/MONDO_0001546		DOID:12537|UMLS:C0158295|SNOMEDCT:202809009
MONDO:0025513	autoimmune urticaria	biolink:Disease	mondo	SCTID:402397006|ICD9:708.8|UMLS:C1304191		autoimmune urticaria|autoimmune urticaria (disease)	http://purl.obolibrary.org/obo/MONDO_0025513	An autoimmune form of urticaria (disease).	SNOMEDCT:402397006|UMLS:C1304191
MONDO:0001545	obsolete von willebrand disease	biolink:Disease	mondo			obsolete von willebrand's disease	http://purl.obolibrary.org/obo/MONDO_0001545		
UBERON:0036990	wall of pharyngotympanic tube	biolink:AnatomicalEntity	mondo			pharyngotympanic tube wall	http://purl.obolibrary.org/obo/UBERON_0036990		
MONDO:0001544	tibial nerve palsy	biolink:Disease	mondo	ICD9:355.8|UMLS:C0154751|SCTID:365258000|DOID:12529			http://purl.obolibrary.org/obo/MONDO_0001544		DOID:12529|UMLS:C0154751|SNOMEDCT:365258000
MONDO:0013529	catecholaminergic polymorphic ventricular tachycardia 3	biolink:Disease	mondo	DOID:0060677|OMIM:614021|UMLS:C3151463|ICD10:I47.2		ventricular tachycardia, catecholaminergic polymorphic, 3|catecholaminergic polymorphic ventricular tachycardia type 3|TECRL catecholaminergic polymorphic ventricular tachycardia|CVPT3|catecholaminergic polymorphic ventricular tachycardia caused by mutation in TECRL|ventricular tachycardia, catecholaminergic polymorphic, 3; CPVT3|CPVT3	http://purl.obolibrary.org/obo/MONDO_0013529	Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TECRL gene.	UMLS:C3151463|DOID:0060677|http://identifiers.org/omim/614021
MONDO:0013527	lissencephaly 4	biolink:Disease	mondo	OMIM:614019|UMLS:C3151461		lissencephaly type 4|lissencephaly 4; LIS4|lissencephaly 4, with microcephaly|lissencephaly (disease) caused by mutation in NDE1|lissencephaly 4|NDE1 lissencephaly (disease)|LIS4|lissencephaly 4 with microcephaly	http://purl.obolibrary.org/obo/MONDO_0013527	Any lissencephaly in which the cause of the disease is a mutation in the NDE1 gene.	UMLS:C3151461|http://identifiers.org/omim/614019
MONDO:0013528	intellectual disability, autosomal recessive 14	biolink:Disease	mondo	OMIM:614020|UMLS:C3151462		MRT14|mental retardation, autosomal recessive 14; MRT14|intellectual disability, autosomal recessive 14|autosomal recessive non-syndromic intellectual disability caused by mutation in TECR|intellectual disability, autosomal recessive 14; MRT14|TECR autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive type 14|mental retardation, autosomal recessive 14|intellectual disability, autosomal recessive type 14	http://purl.obolibrary.org/obo/MONDO_0013528	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TECR gene.	UMLS:C3151462|http://identifiers.org/omim/614020
MONDO:0013532	protein Z deficiency	biolink:Disease	mondo	OMIM:614024|UMLS:C3151465		protein Z deficiency	http://purl.obolibrary.org/obo/MONDO_0013532		http://identifiers.org/omim/614024|UMLS:C3151465
MONDO:0013533	hyperlipidemia due to hepatic triglyceride lipase deficiency	biolink:Disease	mondo	GARD:0012864|Orphanet:140905|SCTID:720940008|UMLS:C3151466|OMIM:614025|ICD10:E78.4	ordo_disease	hyperlipidemia due to hepatic lipase deficiency|hyperlipidemia due to HTGL deficiency|hyperlipidemia due to HL deficiency|hepatic lipase deficiency|lipc deficiency|HL deficiency|hyperlipidemia due to hepatic triacylglycerol lipase deficiency	http://purl.obolibrary.org/obo/MONDO_0013533	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated.	http://identifiers.org/omim/614025|SNOMEDCT:720940008|UMLS:C3151466|ORPHA:140905
MONDO:0013530	atrial fibrillation, familial, 10	biolink:Disease	mondo	OMIM:614022|UMLS:C3151464		SCN5A familial atrial fibrillation|familial atrial fibrillation caused by mutation in SCN5A|atrial fibrillation, familial, type 10|atrial fibrillation, familial, 10; ATFB10|ATFB10|atrial fibrillation, familial, 10	http://purl.obolibrary.org/obo/MONDO_0013530	Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN5A gene.	http://identifiers.org/omim/614022|UMLS:C3151464
MONDO:0013531	PSPH deficiency	biolink:Disease	mondo	ICD9:277.6|ICD10:E72.8|UMLS:C1291463|OMIM:614023|SCTID:124432005|DOID:0050724|Orphanet:79350	ordo_disease	phosphoserine phosphatase deficiency|3-phosphoserine phosphatase deficiency|PSPHD|phosphoserine phosphatase deficiency; PSPHD	http://purl.obolibrary.org/obo/MONDO_0013531	3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome.	SNOMEDCT:124432005|ORPHA:79350|UMLS:C1291463|http://identifiers.org/omim/614023|DOID:0050724
MONDO:0013536	heme oxygenase 1 deficiency	biolink:Disease	mondo	MESH:C564200|UMLS:C1841651|OMIM:614034|Orphanet:562509	ordo_disease	heme oxygenase 1 deficiency|heme oxygenase 1 deficiency; HMOX1D|HMOX1D	http://purl.obolibrary.org/obo/MONDO_0013536		MESH:C564200|UMLS:C1841651|http://identifiers.org/omim/614034|ORPHA:562509
MONDO:0013537	autosomal recessive nonsyndromic deafness 29	biolink:Disease	mondo	UMLS:C3279660|OMIM:614035|DOID:0110487|ICD10:H90.3		CLDN14 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 29|autosomal recessive deafness 29|DFNB29|autosomal recessive nonsyndromic deafness type 29|deafness, autosomal recessive 29; DFNB29|autosomal recessive nonsyndromic deafness caused by mutation in CLDN14|deafness, autosomal recessive type 29	http://purl.obolibrary.org/obo/MONDO_0013537	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLDN14 gene.	UMLS:C3279660|DOID:0110487|http://identifiers.org/omim/614035
MONDO:0013534	apolipoprotein c-III deficiency	biolink:Disease	mondo	MESH:C566270|UMLS:C3151467|DOID:0111370|OMIM:614028		apolipoprotein c-III deficiency|hyperalphalipoproteinemia 2	http://purl.obolibrary.org/obo/MONDO_0013534		http://identifiers.org/omim/614028|MESH:C566270|UMLS:C3151467|DOID:0111370
MONDO:0013535	hydroxyacyl glutathione hydrolase deficiency	biolink:Disease	mondo	OMIM:614033|UMLS:C3279657|MESH:C564215		glyoxalase 2 deficiency|hydroxyacyl glutathione hydrolase deficiency	http://purl.obolibrary.org/obo/MONDO_0013535		UMLS:C3279657|MESH:C564215|http://identifiers.org/omim/614033
UBERON:0022351	parietal serous membrane	biolink:AnatomicalEntity	mondo			cavity lining|parietal wall of serous membrane	http://purl.obolibrary.org/obo/UBERON_0022351	Serous membrane layer that lines to a body cavity.	
MONDO:0025506	porcine postweaning multisystemic wasting syndrome	biolink:Disease	mondo	UMLS:C1721016|MESH:D053570		postweaning multisystemic wasting syndrome, porcine	http://purl.obolibrary.org/obo/MONDO_0025506	A worldwide emerging disease of weaned piglets first recognized in swine herds in western Canada in 1997. This syndrome is characterized by progressive weight loss, rapid (tachypnea) and difficult (dyspnea) breathing, and yellowing of skin. PMWS is caused by porcine circovirus infection, specifically type 2 or PCV-2.	UMLS:C1721016|MESH:D053570
MONDO:0001539	retinal perforation	biolink:Disease	mondo	DOID:12514|UMLS:C0035321|SCTID:232003005|MESH:D012167		retinal dialysis|retinal tear|retinal break	http://purl.obolibrary.org/obo/MONDO_0001539	A usually small tearing of the retina occurring when the vitreous separates from the retina. It may lead to retinal detachment. Symptoms include flashes and floaters.	MESH:D012167|NCIT:C50732|DOID:12514|UMLS:C0035321|SNOMEDCT:232003005
UBERON:0022350	visceral serous membrane	biolink:AnatomicalEntity	mondo			visceral wall of serous membrane	http://purl.obolibrary.org/obo/UBERON_0022350	Serous membrane layer that is adjacent to and lines an organ.	
MONDO:0001538	retinal ischemia	biolink:Disease	mondo	UMLS:C0162291|ICD9:362.84|DOID:12510|ICD10:H35.82|COHD:378142|SCTID:26468004		ischemic disease of retina|retina ischemic disease	http://purl.obolibrary.org/obo/MONDO_0001538	A ischemic disease that involves the retina.	UMLS:C0162291|DOID:12510|SNOMEDCT:26468004
CHEBI:15740	formate	biolink:ChemicalSubstance	mondo			hydrogen carboxylate|formate|aminate|formiate|methanoate|formylate|formic acid, ion(1-)|HCO2 anion	http://purl.obolibrary.org/obo/CHEBI_15740	A monocarboxylic acid anion that is the conjugate base of formic acid. Induces severe metabolic acidosis and ocular injury in human subjects.	
OBO:chebi#is_conjugate_base_of	is conjugate base of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/chebi#is_conjugate_base_of		
MONDO:0001537	tuberculous epididymitis	biolink:Disease	mondo	ICD9:016.46|SCTID:83652003|ICD9:016.4|ICD9:016.40|UMLS:C0152814|ICD9:016.42|ICD9:016.41|DOID:1251			http://purl.obolibrary.org/obo/MONDO_0001537	An urogenital tuberculosis involving a pathogenic inflammatory response in the epididymis.	SNOMEDCT:83652003|DOID:1251|UMLS:C0152814
UBERON:0022355	basal layer of endometrium	biolink:AnatomicalEntity	mondo			stratum basalis of endometrium|pars basalis of endometrium	http://purl.obolibrary.org/obo/UBERON_0022355	The layer of endometrial epithelium adjacent to the uterine cavity.	
CHEBI:76740	EC 1.13.* [oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases)] inhibitor	biolink:ChemicalSubstance	mondo			oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases) (EC 1.13.*) inhibitor|oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases) inhibitors|oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases) inhibitor|oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases) (EC 1.13.*) inhibitors|EC 1.13.* inhibitors|EC 1.13.* [oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases)] inhibitors|EC 1.13.* inhibitor	http://purl.obolibrary.org/obo/CHEBI_76740	An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases), EC 1.13.*.*.	
UBERON:0022357	mesentery of ileum	biolink:AnatomicalEntity	mondo			ileal mesentery|mesoileum|ileum mesentery	http://purl.obolibrary.org/obo/UBERON_0022357		
CHEBI:76741	EC 1.14.* (oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitor	biolink:ChemicalSubstance	mondo			inhibitor of oxidoreductases acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.*)|inhibitors of oxidoreductases acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.*)|inhibitors of oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.*)|oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen inhibitors|inhibitor of oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.*)|EC 1.14.* inhibitors|oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.*) inhibitors|oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.*) inhibitor|EC 1.14.* inhibitor|oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen inhibitor|EC 1.14.* (oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitors	http://purl.obolibrary.org/obo/CHEBI_76741	An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on hydrogen as donors (EC 1.14.*.*).	
UBERON:0022356	outer layer of endometrium	biolink:AnatomicalEntity	mondo			stratum functionalis of endometrium|functional layer of endometrium	http://purl.obolibrary.org/obo/UBERON_0022356	The layer of endometrial epithelium adjacent to the myometrium.	
MONDO:0001554	phacogenic glaucoma	biolink:Disease	mondo	SCTID:392300000|UMLS:C0339590|DOID:12571|COHD:434030|ICD9:365.59		lens induced angle closure glaucoma|phacomorphic glaucoma|lens swelling glaucoma	http://purl.obolibrary.org/obo/MONDO_0001554	Secondary glaucoma caused by either excessive size or spheric shape of the lens.	DOID:12571|UMLS:C0339590|SNOMEDCT:392300000
UBERON:0022358	placenta blood vessel	biolink:AnatomicalEntity	mondo			placental vessel	http://purl.obolibrary.org/obo/UBERON_0022358	A blood vessel of the placenta.	
MONDO:0001553	phacolytic glaucoma	biolink:Disease	mondo	DOID:12570|UMLS:C0152137|COHD:441556|ICD9:365.51|SCTID:32893002		endophthalmitis phacoanaphylactica	http://purl.obolibrary.org/obo/MONDO_0001553	An abnormal condition characterized by an acute autoimmune reaction of the eye. It is caused by hypersensitivity of the eye to the protein of the crystalline lens and commonly follows trauma to the crystalline lens or cataract surgery. Associated symptoms include swelling and inflammation of the eye, severe pain, and blurred vision. The substance of the lens is invaded by polymorphonuclear cells and mononuclear phagocytes. Accurate diagnosis must differentiate between this condition and infectious endophthalmitis. Therapy is supportive and commonly includes the administration of corticosteroids and atropine. Refractory cases may require surgical removal of the lens.	DOID:12570|SNOMEDCT:32893002|UMLS:C0152137
MONDO:0001552	dyscalculia (disease)	biolink:Disease	mondo	DOID:12568|SCTID:47916000|HP:0002442|NCIT:C97165|MESH:D060705|ICD9:315.1		disorder of arithmetical skills|mathematics disorder|dyscalculia	http://purl.obolibrary.org/obo/MONDO_0001552	A wide group of related learning disorders characterized by difficulties with mathematics and manipulating numbers; the difficulty with math may be caused or exacerbated by visuo-spatial or language processing difficulties.	NCIT:C97165|DOID:12568|SNOMEDCT:47916000|MESH:D060705
MONDO:0001551	ulceration of vulva	biolink:Disease	mondo	DOID:12566|UMLS:C0156339|ICD9:616.50|SCTID:68640004|COHD:253815|ICD10:N77.0|ICD10:N76.6|ICD9:616.51		ulceration of vulva|vulvar ulceration	http://purl.obolibrary.org/obo/MONDO_0001551		DOID:12566|SNOMEDCT:68640004|UMLS:C0156339
MONDO:0001558	Potter sequence	biolink:Disease	mondo	SCTID:41962002|GARD:0004462|ICD10:Q60.6|DOID:12594|NCIT:C40435|UMLS:C0178426	gard_rare	Potter syndrome|oligohydramnios sequence|Potter's sequence|Potter's syndrome	http://purl.obolibrary.org/obo/MONDO_0001558	A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure.	SNOMEDCT:41962002|DOID:12594|UMLS:C0178426|NCIT:C40435
UBERON:0010391	parametrium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010391	The subserous connective tissue of the pelvic floor of the supracervical portion of the uterus. The parametrium extends laterally between the layers of the broad ligament.	
MONDO:0001557	olecranon bursitis	biolink:Disease	mondo	ICD9:726.33|ICD10:M70.2|SCTID:425940002|COHD:134452|DOID:12581|UMLS:C3887895|UMLS:C0263962		shoe boil|bursitis of elbow region|bursitis of elbow|olecranon bursitis|capped elbow|miner's elbow|elbow bursitis (& olecranon)|bursitis of olecranon|Miners' elbow|elbow bursitis	http://purl.obolibrary.org/obo/MONDO_0001557	A bursitis that involves the olecranon.	DOID:12581|UMLS:C0263962|SNOMEDCT:425940002|UMLS:C3887895
CHEBI:76759	EC 3.* (hydrolase) inhibitor	biolink:ChemicalSubstance	mondo			EC 3.* inhibitor|hydrolase (EC 3.*) inhibitor|EC 3.*.*.* inhibitors|hydrolase inhibitors|EC 3.* (hydrolase) inhibitors|hydrolase inhibitor|EC 3.*.*.* inhibitor|EC 3.* inhibitors|hydrolase (EC 3.*) inhibitors	http://purl.obolibrary.org/obo/CHEBI_76759	Any enzyme inhibitor that interferes with the action of a hydrolase (EC 3.*.*.*).	
MONDO:0001556	urethral obstruction (disease)	biolink:Disease	mondo	HP:0000796|DOID:12577|UMLS:C0041972|MESH:D014524|ICD9:599.69|SCTID:95588004		urethral obstruction|obstruction of urethra	http://purl.obolibrary.org/obo/MONDO_0001556	Blockage of the normal flow of urine in the urethra.	SNOMEDCT:95588004|UMLS:C0041972|DOID:12577|NCIT:C79804|MESH:D014524
MONDO:0025505	mink viral enteritis	biolink:Disease	mondo	MESH:D053489|UMLS:C1720999		enteritis, infectious, of mink|viral enteritis, mink|enteritis, mink viral|viral enteritides, mink|enteritides, mink viral|mink viral enteritides	http://purl.obolibrary.org/obo/MONDO_0025505	A highly contagious parvovirus infection in mink, caused by mink enteritis virus or the closely related feline panleukopenia virus or canine parvovirus. Transmission usually occurs by the fecal/oral route.	MESH:D053489|UMLS:C1720999
MONDO:0001555	neonatal thyrotoxicosis	biolink:Disease	mondo	NCIT:C114906|ICD9:775.3|UMLS:C0158983|COHD:137099|DOID:12573|SCTID:13795004|ICD10:P72.1		infantile hyperthyroidism	http://purl.obolibrary.org/obo/MONDO_0001555	A hypermetabolic syndrome characterized by tachycardia, palpitations, tremor, weight loss, and moist skin that is caused by the elevation of thyroid hormone levels in the serum of the newborn infant or thyroid-axis receptor activation, most commonly due to transplacental passage of thyroid stimulating globulins.	NCIT:C114906|SNOMEDCT:13795004|DOID:12573|UMLS:C0158983
UBERON:0010390	lumen of urethra	biolink:AnatomicalEntity	mondo			urethral lumen	http://purl.obolibrary.org/obo/UBERON_0010390	An organ cavity that is part of a urethra.	
MONDO:0013518	pituitary hormone deficiency, combined, 6	biolink:Disease	mondo	OMIM:613986|UMLS:C3151440		pituitary hormone deficiency, combined, type 6|pituitary hormone deficiency, combined, 6|combined pituitary hormone deficiencies, genetic form caused by mutation in OTX2|pituitary hormone deficiency, combined, 6; CPHD6|CPHD6|OTX2 combined pituitary hormone deficiencies, genetic form	http://purl.obolibrary.org/obo/MONDO_0013518	Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the OTX2 gene.	http://identifiers.org/omim/613986|UMLS:C3151440
MONDO:0013519	dyskeratosis congenita, autosomal recessive 2	biolink:Disease	mondo	DOID:0070017|UMLS:C3151441|OMIM:613987		dyskeratosis congenita, autosomal recessive 2; DKCB2|dyskeratosis congenita, autosomal recessive type 2|dyskeratosis congenita, autosomal recessive 2|DKCB2|autosomal recessive dyskeratosis congenita 2	http://purl.obolibrary.org/obo/MONDO_0013519	A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3.	http://identifiers.org/omim/613987|UMLS:C3151441|DOID:0070017
HP:0010576	Intracranial cystic lesion	biolink:PhenotypicFeature	mondo	UMLS:C4021250		Cerebral cystic malformation	http://purl.obolibrary.org/obo/HP_0010576	A cystic lesion originating within the brain.	
MONDO:0013516	retinitis pigmentosa 60	biolink:Disease	mondo	ICD10:H35.5|OMIM:613983|DOID:0110411|UMLS:C3151434		retinitis pigmentosa 60|retinitis pigmentosa caused by mutation in PRPF6|retinitis pigmentosa 60; RP60|RP60|retinitis pigmentosa type 60|PRPF6 retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0013516	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF6 gene.	http://identifiers.org/omim/613983|UMLS:C3151434|DOID:0110411
MONDO:0013517	beta-thalassemia HBB/LCRB	biolink:Disease	mondo	OMIM:613985|SCDO:0000251		beta-thalassemia	http://purl.obolibrary.org/obo/MONDO_0013517	Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype.	http://identifiers.org/omim/613985
UBERON:0010399	spleen trabecular artery	biolink:AnatomicalEntity	mondo			trabecular artery	http://purl.obolibrary.org/obo/UBERON_0010399	one of the branches of the splenic artery[MP]	
MONDO:0001550	obsolete Duane retraction syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001550		
MONDO:0013521	dyskeratosis congenita, autosomal dominant 2	biolink:Disease	mondo	UMLS:C3151443|OMIM:613989|DOID:0070016		dyskeratosis congenita, autosomal dominant 2|dyskeratosis congenita, autosomal dominant type 2|DKCA2|autosomal dominant dyskeratosis congenita 2|dyskeratosis congenita, autosomal recessive 4|dyskeratosis congenita, autosomal dominant 2; DKCA2	http://purl.obolibrary.org/obo/MONDO_0013521	A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERT on chromosome 5p15.33.	DOID:0070016|http://identifiers.org/omim/613989|UMLS:C3151443
MONDO:0013522	dyskeratosis congenita, autosomal dominant 3	biolink:Disease	mondo	UMLS:C3151445|OMIM:613990|DOID:0070018		dyskeratosis congenita, autosomal dominant 3|dyskeratosis congenita, autosomal dominant 3; DKCA3|dyskeratosis congenita, autosomal dominant type 3|autosomal dominant dyskeratosis congenita 3|DKCA3	http://purl.obolibrary.org/obo/MONDO_0013522	A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TINF2 on chromosome 14q12.	DOID:0070018|http://identifiers.org/omim/613990|UMLS:C3151445
CHEBI:15734	primary alcohol	biolink:ChemicalSubstance	mondo			Primary alcohol|primary alcohols|1-Alcohol|a primary alcohol	http://purl.obolibrary.org/obo/CHEBI_15734	A primary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has either three hydrogen atoms attached to it or only one other carbon atom and two hydrogen atoms attached to it.	
MONDO:0013520	dyskeratosis congenita, autosomal recessive 3	biolink:Disease	mondo	OMIM:613988|UMLS:C3151442|DOID:0070019		DKCB3|autosomal recessive dyskeratosis congenita 3|dyskeratosis congenita, autosomal recessive type 3|dyskeratosis congenita, autosomal recessive 3; DKCB3|dyskeratosis congenita, autosomal recessive 3	http://purl.obolibrary.org/obo/MONDO_0013520	A dyskeratosis congenita that has material basis in an autosomal recessive mutation of WRAP53 on chromosome 17p13.1.	DOID:0070019|http://identifiers.org/omim/613988|UMLS:C3151442
MONDO:0013525	primary ciliary dyskinesia 16	biolink:Disease	mondo	DOID:0110613|UMLS:C3151460|ICD10:Q34.8|OMIM:614017		primary ciliary dyskinesia type 16|ciliary dyskinesia, primary, type 16|primary ciliary dyskinesia 16 with or without situs inversus|CILD16|ciliary dyskinesia, primary, 16|primary ciliary dyskinesia caused by mutation in DNAL1|ciliary dyskinesia, primary, 16; CILD16|ciliary dyskinesia, primary, 16, with or without situs inversus|DNAL1 primary ciliary dyskinesia	http://purl.obolibrary.org/obo/MONDO_0013525	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAL1 gene.	UMLS:C3151460|DOID:0110613|http://identifiers.org/omim/614017
MONDO:0013526	progressive myoclonic epilepsy type 6	biolink:Disease	mondo	Orphanet:280620|DOID:0111449|GARD:0003872|OMIM:614018|ICD10:G40.3|UMLS:C3279627	ordo_disease	GOSR2 progressive myoclonic epilepsy|epilepsy, progressive myoclonic, type 6|PME type 6|North Sea progressive myoclonus epilepsy|EPM6|GOSR2-related progressive myoclonus ataxia|progressive myoclonus epilepsy type 6|epilepsy, progressive myoclonic, 6|epilepsy, progressive myoclonic, 6; EPM6|progressive myoclonic epilepsy caused by mutation in GOSR2	http://purl.obolibrary.org/obo/MONDO_0013526	Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the GOSR2 gene.	UMLS:C3279627|DOID:0111449|ORPHA:280620|http://identifiers.org/omim/614018
MONDO:0013523	Nestor-Guillermo progeria syndrome	biolink:Disease	mondo	Orphanet:280576|ICD10:E34.8|OMIM:614008|GARD:0011008|UMLS:C3151446	gard_rare|ordo_malformation_syndrome	PSCOO|Nestor-Guillermo progeria syndrome|progeria syndrome, childhood-onset, with osteolysis|Nestor-Guillermo progeria syndrome; NGPS|NGPS	http://purl.obolibrary.org/obo/MONDO_0013523		ORPHA:280576|http://identifiers.org/omim/614008|UMLS:C3151446
UBERON:0022360	male mammary gland duct	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0022360	A mammary gland duct that is part of a male organism. This structure typically regresses.	
MONDO:0013524	bleeding diathesis due to thromboxane synthesis deficiency	biolink:Disease	mondo	Orphanet:220443|OMIM:614009|ICD10:D69.8	ordo_disease|predisposition	bleeding disorder, platelet-type, 13, susceptibility to|susceptibility to platelet-type bleeding disorder 13|bleeding disorder, platelet-type, 13, susceptibility to; BDPLT13|bleeding disorder, susceptibility to, due to defective platelet thromboxane A2 receptor|BDPLT13	http://purl.obolibrary.org/obo/MONDO_0013524		http://identifiers.org/omim/614009|ORPHA:220443
UBERON:0022361	lung field	biolink:AnatomicalEntity	mondo			lung field	http://purl.obolibrary.org/obo/UBERON_0022361	A specific region of the foregut into the area in which the lung will develop.	
MONDO:0001549	hemolytic-uremic syndrome	biolink:Disease	mondo	Orphanet:544458|UMLS:C0019061|COHD:197253|MESH:D006463|GARD:0006588|SCTID:111407006|DOID:12554|NCIT:C75545|ICD10:D59.3|ICD9:283.11|OMIMPS:235400	ordo_group_of_disorders	acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells')|HUS|haemolytic-uraemic syndrome|hemolytic uremic syndrome	http://purl.obolibrary.org/obo/MONDO_0001549	Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia.	UMLS:C0019061|NCIT:C75545|SNOMEDCT:111407006|MESH:D006463|DOID:12554|ORPHA:544458
MONDO:0001548	hepatic coma	biolink:Disease	mondo	UMLS:C0019147|ICD9:070.42|ICD10:K72.91|DOID:12550|COHD:377604|SCTID:72836002		hepatocerebral intoxication	http://purl.obolibrary.org/obo/MONDO_0001548	A syndrome characterized by central nervous system dysfunction in association with liver failure, including portal-systemic shunts. Clinical features include lethargy and confusion (frequently progressing to coma); asterixis; nystagmus, pathologic; brisk oculovestibular reflexes; decorticate and decerebrate posturing; muscle spasticity; and bilateral extensor plantar reflexes (see reflex, babinski). electroencephalography may demonstrate triphasic waves. (From Adams et al., Principles of Neurology, 6th ed, pp1117-20; Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, p222-5)	UMLS:C0019147|DOID:12550|SNOMEDCT:72836002
HGNC:5099	HOXA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5099		
UBERON:0000978	leg	biolink:AnatomicalEntity	mondo			lower extremity|tetrapod leg	http://purl.obolibrary.org/obo/UBERON_0000978	The portion of the hindlimb that contains both the stylopod and zeugopod.	
UBERON:0000979	tibia	biolink:AnatomicalEntity	mondo			shinbone|shankbone	http://purl.obolibrary.org/obo/UBERON_0000979	The major preaxial endochondral bone in the posterior zeugopod[Phenoscape].	
UBERON:0000974	neck	biolink:AnatomicalEntity	mondo			neck (volume)|collum	http://purl.obolibrary.org/obo/UBERON_0000974	An organism subdivision that extends from the head to the pectoral girdle, encompassing the cervical vertebral column.	
UBERON:0000975	sternum	biolink:AnatomicalEntity	mondo			breastbone|vertebrate sternum	http://purl.obolibrary.org/obo/UBERON_0000975	A midventral endochondral skeletal element which represents the origin site of the pectoral muscles[PHENOSCAPE:ad].	
UBERON:0000976	humerus	biolink:AnatomicalEntity	mondo			mesomere 1 of pectoral appendage|humeri|humerus bone|proximal metapterygial mesomere of pectoral fin|proximal metapterygial mesomere of pectoral appendage	http://purl.obolibrary.org/obo/UBERON_0000976	Paired endochondral long bone that extends between the pectoral girdle and the skeletal parts of the forelimb. [PHENOSCAPE:mah]	
UBERON:0000977	pleura	biolink:AnatomicalEntity	mondo			pleura|wall of pleural sac|pleural tissue	http://purl.obolibrary.org/obo/UBERON_0000977	The invaginated serous membrane that surrounds the lungs (the visceral portion) and lines the walls of the pleural cavity (parietal portion).	
HGNC:473	AMT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/473		
HGNC:470	AMPD3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/470		
HGNC:7602	MYO5A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7602		
UBERON:0036925	wall of eyeball	biolink:AnatomicalEntity	mondo			eyeball wall	http://purl.obolibrary.org/obo/UBERON_0036925		
NCBITaxon:2169971	Visna-maedi virus	organism taxon	mondo	GC_ID:1		Maedi visna virus|Maedi visna virus MVV|Visna lentivirus|Visna virus|Maedi-Visna virus|Visna/maedi virus|Maedi/Visna virus	http://purl.obolibrary.org/obo/NCBITaxon_2169971		
HGNC:7601	MYO3A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7601		
HGNC:7603	MYO5B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7603		
HGNC:7606	MYO7A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7606		
HGNC:7605	MYO6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7605		
UBERON:0000981	femur	biolink:AnatomicalEntity	mondo			os longissimum|proximal metapterygial mesomere of pelvic appendage|femoral bone|os femorale|mesomere 1 of pevlic appendage|thigh bone|proximal metapterygial mesomere of pelvic fin|os femoris	http://purl.obolibrary.org/obo/UBERON_0000981	Endochondral longbone connecting the pelvic girdle with posterior zeugopodium skeleton.[VSAO, modified].	
UBERON:0000982	skeletal joint	biolink:AnatomicalEntity	mondo			articular joint|articulation|joints|joint	http://purl.obolibrary.org/obo/UBERON_0000982	Anatomical cluster that consists of two or more adjacent skeletal structures, which may be interconnected by various types of tissue[VSAO].	
UBERON:0000983	metatarsus region	biolink:AnatomicalEntity	mondo			hindlimb equine cannon region|hind metapodium|metatarsal region|hindlimb cannon region|regio metatarsalis|metatarsus|metatarsal part of foot	http://purl.obolibrary.org/obo/UBERON_0000983	A metapodium region that is part of a pes.	
UBERON:0000964	cornea	biolink:AnatomicalEntity	mondo			corneas|cornea of camera-type eye|tunica cornea	http://purl.obolibrary.org/obo/UBERON_0000964	the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure	
UBERON:0000965	lens of camera-type eye	biolink:AnatomicalEntity	mondo			crystalline lens|lens|ocular lens|eye lens|camera-type eye lens|lenses|lens crystallina	http://purl.obolibrary.org/obo/UBERON_0000965	Transparent part of camera-type eye that helps to refract light to be focused on the retina.	
UBERON:0000966	retina	biolink:AnatomicalEntity	mondo			retina of camera-type eye|tunica interna of eyeball|retinas|Netzhaut|inner layer of eyeball	http://purl.obolibrary.org/obo/UBERON_0000966	The retina is the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates.	
HGNC:483	ANG	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/483		
HGNC:7609	MYO9B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7609		
HGNC:7610	MYOC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7610		
UBERON:0000970	eye	biolink:AnatomicalEntity	mondo			light-detecting organ|visual apparatus	http://purl.obolibrary.org/obo/UBERON_0000970	An organ that detects light.	
NCBITaxon:325675	unclassified Arteriviridae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_325675		
UBERON:0000956	cerebral cortex	biolink:AnatomicalEntity	mondo			cortex cerebri|cortical plate (areas)|cortex of cerebral hemisphere|pallium of the brain|brain cortex|cortex cerebralis|cortical plate (CTXpl)	http://purl.obolibrary.org/obo/UBERON_0000956	The thin layer of gray matter on the surface of the cerebral hemisphere that develops from the telencephalon. It consists of the neocortex (6 layered cortex or isocortex), the hippocampal formation and the olfactory cortex.	
UBERON:0000957	lamina	biolink:AnatomicalEntity	mondo			laminar tissue	http://purl.obolibrary.org/obo/UBERON_0000957	Any thin layer or plate.	
UBERON:0022303	nervous system cell part layer	biolink:AnatomicalEntity	mondo			lamina|layer	http://purl.obolibrary.org/obo/UBERON_0022303	Single layer of a laminar structure, identified by different density, arrangement or size of cells and processes arranged in flattened layers or lamina[CUMBO].	
UBERON:0000958	medulla of organ	biolink:AnatomicalEntity	mondo			medulla	http://purl.obolibrary.org/obo/UBERON_0000958	Middle part of an organ, surrounded by the cortex.	
UBERON:0000959	optic chiasma	biolink:AnatomicalEntity	mondo			chiasma nervorum opticorum|chiasma opticum|decussation of optic nerve fibers|optic chiasm|chiasma|optic chiasm (Rufus of Ephesus)	http://purl.obolibrary.org/obo/UBERON_0000959	A decussation of the diencephalon where the fibers of the optic nerve cross	
UBERON:0000955	brain	biolink:AnatomicalEntity	mondo			suprasegmental levels of nervous system|suprasegmental structures|encephalon|the brain|synganglion	http://purl.obolibrary.org/obo/UBERON_0000955	The brain is the center of the nervous system in all vertebrate, and most invertebrate, animals. Some primitive animals such as jellyfish and starfish have a decentralized nervous system without a brain, while sponges lack any nervous system at all. In vertebrates, the brain is located in the head, protected by the skull and close to the primary sensory apparatus of vision, hearing, balance, taste, and smell[WP].	
HGNC:452	AMBN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/452		
HGNC:451	AMACR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/451		
HGNC:450	ALX4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/450		
NCBITaxon:2169992	Brazilian mammarenavirus	organism taxon	mondo	GC_ID:1		Sabia virus|Sabia mammarenavirus|Sabia arenavirus|Sabi mammarenavirus	http://purl.obolibrary.org/obo/NCBITaxon_2169992		
NCBITaxon:2169991	Argentinian mammarenavirus	organism taxon	mondo	GC_ID:1		Junin mammarenavirus|Junn mammarenavirus|Junin arenavirus|Junin virus	http://purl.obolibrary.org/obo/NCBITaxon_2169991		
CHEBI:25154	manganese molecular entity	biolink:ChemicalSubstance	mondo			manganese molecular entity|manganese compounds|manganese molecular entities	http://purl.obolibrary.org/obo/CHEBI_25154		
HGNC:7623	MYT1L	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7623		
UBERON:0000962	nerve of cervical vertebra	biolink:AnatomicalEntity	mondo			nervus cervicalis|cervical spinal nerve|cervical nerve tree|cervical nerve	http://purl.obolibrary.org/obo/UBERON_0000962	The cervical nerves are the spinal nerves from the cervical vertebrae. Although there are seven cervical vertebrae (C1-C7), there are eight cervical nerves (C1-C8). All nerves except C8 emerge above their corresponding vertebrae, while the C8 nerve emerges below the C7 vertebra. (In the other portions of the spine, the nerve emerges below the vertebra with the same name. Dorsal (posterior) distribution includes the greater occipital (C2) and third occipital (C3). Ventral (anterior) distribution includes the cervical plexus (C1-C4) and brachial plexus (C5-C8) [WP,unvetted].	
CHEBI:37134	elemental barium	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_37134		
CHEBI:37133	barium molecular entity	biolink:ChemicalSubstance	mondo			barium molecular entity|barium compounds|barium molecular entities	http://purl.obolibrary.org/obo/CHEBI_37133		
UBERON:0000945	stomach	biolink:AnatomicalEntity	mondo			gaster|anterior intestine|stomach chamber|ventriculus|mesenteron	http://purl.obolibrary.org/obo/UBERON_0000945	An expanded region of the vertebrate alimentary tract that serves as a food storage compartment and digestive organ. A stomach is lined, in whole or in part by a glandular epithelium.	
UBERON:0000946	cardial valve	biolink:AnatomicalEntity	mondo			heart valve|stomodaeal valve|valve of heart|heart valves|cardiac valve|heart valve|valvule	http://purl.obolibrary.org/obo/UBERON_0000946	A membranous fold of the heart that prevents reflux of fluid	
HGNC:469	AMPD2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/469		
UBERON:0000947	aorta	biolink:AnatomicalEntity	mondo			trunk of systemic arterial tree|dorsal aorta|arteria maxima|trunk of aortic tree	http://purl.obolibrary.org/obo/UBERON_0000947	The main trunk of the systemic arterial system that carries blood from the heart to all the organs and other structures of the body, bringing oxygenated blood to all parts of the body in the systemic circulation	
UBERON:0000948	heart	biolink:AnatomicalEntity	mondo			vertebrate heart|chambered heart|branchial heart|cardium|Herz@de	http://purl.obolibrary.org/obo/UBERON_0000948	A myogenic muscular circulatory organ found in the vertebrate cardiovascular system composed of chambers of cardiac muscle. It is the primary circulatory organ.	
HGNC:468	AMPD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/468		
UBERON:0000941	cranial nerve II	biolink:AnatomicalEntity	mondo			nerve II|2n|nervus opticus [II]|CN-II|optic II nerve|optic nerve|optic nerve [II]|02 optic nerve|optic|cranial II|second cranial nerve|nervus opticus|optic II	http://purl.obolibrary.org/obo/UBERON_0000941	Cranial nerve fiber tract which is comprised of retinal ganglion cell axons running posterior medially towards the optic chiasm, at which some of the axons cross the midline and after which the structure is termed the optic tract. Transmits visual information from the retina to the brain[ZFA].	
HGNC:467	AMMECR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/467		
HGNC:465	AMHR2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/465		
HGNC:464	AMH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/464		
HGNC:461	AMELX	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/461		
UBERON:0000949	endocrine system	biolink:AnatomicalEntity	mondo			endocrine system|systema endocrinum|endocrine glandular system	http://purl.obolibrary.org/obo/UBERON_0000949	Anatomical system that consists of the glands and parts of glands that produce endocrine secretions and help to integrate and control bodily metabolic activity.	
HGNC:7632	NAGLU	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7632		
HGNC:7631	NAGA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7631		
HGNC:438	ALPL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/438		
CHEBI:49104	heteroarenecarbaldehyde	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_49104	An aldehyde in which a formyl group is located on a heteroarene.	
HGNC:436	ALOX5AP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/436		
HGNC:435	ALOX5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/435		
HP:0010522	Dyslexia	biolink:PhenotypicFeature	mondo	MSH:D004410|UMLS:C0476254|SNOMEDCT_US:9236007|SNOMEDCT_US:52824009|SNOMEDCT_US:59770006		Reading disability	http://purl.obolibrary.org/obo/HP_0010522	A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent).	
HGNC:430	ALOX12B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/430		
UBERON:0010341	1st arch mesenchyme from head mesenchyme	biolink:AnatomicalEntity	mondo			mesenchyme derived from head mesoderm of mesenchyme of 1st arch	http://purl.obolibrary.org/obo/UBERON_0010341	Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a 1st arch mesenchyme.	
NCBITaxon:337687	Muroidea	organism taxon	mondo	PMID:15371245|PMID:15019624|GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_337687		
UBERON:0010344	3rd arch mesenchyme from head mesenchyme	biolink:AnatomicalEntity	mondo			head mesenchyme derived arch 3 mesenchyme|mesenchyme derived from head mesoderm of mesenchyme of 3rd arch|pharyngeal arch 3 mesenchyme from head mesenchyme|branchial arch 3 mesenchyme from head mesenchyme	http://purl.obolibrary.org/obo/UBERON_0010344	Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a 3rd arch mesenchyme.	
UBERON:0010345	4th arch mesenchyme from head mesenchyme	biolink:AnatomicalEntity	mondo			head mesenchyme derived arch 4 mesenchyme|pharyngeal arch 4 mesenchyme from head mesenchyme|mesenchyme derived from head mesoderm of mesenchyme of 4th arch|branchial arch 4 mesenchyme from head mesenchyme	http://purl.obolibrary.org/obo/UBERON_0010345	Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a 4th arch mesenchyme.	
UBERON:0010343	2nd arch mesenchyme from head mesenchyme	biolink:AnatomicalEntity	mondo			head mesenchyme derived arch 2 mesenchyme|mesenchyme derived from head mesoderm of mesenchyme of 2nd arch|branchial arch 2 mesenchyme from head mesenchyme|pharyngeal arch 2 mesenchyme from head mesenchyme	http://purl.obolibrary.org/obo/UBERON_0010343	Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a 2nd arch mesenchyme.	
UBERON:0010337	mandibular process mesenchyme from head mesenchyme	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010337	Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a mandibular process mesenchyme.	
UBERON:0010338	1st arch maxillary mesenchyme from head mesenchyme	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010338	Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a 1st arch maxillary mesenchyme.	
UBERON:0010335	maxillary process mesenchyme from head mesenchyme	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010335	Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a maxillary process mesenchyme.	
HP:0010528	Prosopagnosia	biolink:PhenotypicFeature	mondo	UMLS:C0234512|SNOMEDCT_US:18358003|MSH:D020238		Face blindness|Facial agnosia	http://purl.obolibrary.org/obo/HP_0010528	Inability to recognize faces of familiar persons.	
HGNC:7646	NAT2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7646		
UBERON:0010336	mandibular process mesenchyme from neural crest	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010336	Mesenchyme that develops_from a neural crest and is part of a mandibular process mesenchyme.	
HP:0010527	Astereognosia	biolink:PhenotypicFeature	mondo	MSH:D000377|UMLS:C0234505|SNOMEDCT_US:25094008		Astereognosis|Somatosensory agnosia	http://purl.obolibrary.org/obo/HP_0010527	Inability to recognize the form of objects by touch without visual input. That is, an impairment in the recognition of objects based only on the texture, size, weight and three-dimensional form of the object in the absence of any major somatosensory deficit.	
HP:0010525	Finger agnosia	biolink:PhenotypicFeature	mondo	MSH:D000377|SNOMEDCT_US:3449007|UMLS:C0234509			http://purl.obolibrary.org/obo/HP_0010525	An inability or difficulty differentiating among the fingers of either hand as well as the hands of others.	
NCBITaxon:337677	Cricetidae	organism taxon	mondo	PMID:15371245|GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_337677		
HP:0010524	Agnosia	biolink:PhenotypicFeature	mondo	MSH:D000377|SNOMEDCT_US:42341009|UMLS:C0001816			http://purl.obolibrary.org/obo/HP_0010524	Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions.	
UBERON:0010339	1st arch mandibular mesenchyme from head mesenchyme	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010339	Mesenchyme that develops_from a head mesenchyme from mesoderm and is part of a 1st arch mandibular mesenchyme.	
HGNC:428	ALMS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/428		
HGNC:449	ALX3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/449		
HGNC:445	SETX	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/445		
HGNC:443	ALS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/443		
UBERON:0010330	eyelid mesenchyme	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010330	Mesenchyme that is part of a developing eyelid.	
UBERON:0010333	extraembryonic membrane mesenchyme	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010333	Mesenchyme that is part of a extraembryonic membrane.	
UBERON:0010334	maxillary process mesenchyme from neural crest	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010334	Mesenchyme that develops_from a neural crest and is part of a maxillary process mesenchyme.	
UBERON:0010332	epithelium of handplate	biolink:AnatomicalEntity	mondo			handplate epithelium	http://purl.obolibrary.org/obo/UBERON_0010332	An epithelium that is part of a handplate.	
HP:0010514	Hyperpituitarism	biolink:PhenotypicFeature	mondo	MSH:D006964|SNOMEDCT_US:10649000|UMLS:C0020506			http://purl.obolibrary.org/obo/HP_0010514	Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma.	
UBERON:0010328	limb bud mesenchyme	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010328	Mesenchyme that is part of a limb bud.	
UBERON:0010329	paired limb/fin bud mesenchyme	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010329	Mesenchyme that is part of a limb/fin bud.	
HGNC:7652	NBN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7652		
HGNC:414	ALDOA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/414		
UBERON:0000996	vagina	biolink:AnatomicalEntity	mondo			vaginae|distal oviductal region|distal portion of oviduct	http://purl.obolibrary.org/obo/UBERON_0000996	A fibromuscular tubular tract leading from the uterus to the exterior of the body in female placental mammals and marsupials, or to the cloaca in female birds, monotremes, and some reptiles[WP].	
UBERON:0000997	mammalian vulva	biolink:AnatomicalEntity	mondo			female pudendum|vulva|pudendum femininum|puboperineal region|skin of vulva|skin of female pudendum|pudendum femininum|mammalian vulva|pudendum|pudendum muliebre	http://purl.obolibrary.org/obo/UBERON_0000997	external genital organs of the female mammal[WP].	
UBERON:0000998	seminal vesicle	biolink:AnatomicalEntity	mondo			glandula seminalis|vesicular seminalis|vesicular glands|vesiculæ seminales|vesicular gland|gonecyst|seminal gland|vesiculae seminales|vesicula seminalis|vas efferens|glandula vesiculosa	http://purl.obolibrary.org/obo/UBERON_0000998	Either of a pair of glandular pouches that lie one on either side of the male reproductive tract posterolateral to the urinary bladder and in the human male secrete a sugar- and protein-containing fluid into the ejaculatory duct.	
UBERON:0000999	ejaculatory duct	biolink:AnatomicalEntity	mondo			ductus ejaculatorii|ductus ejaculatorius|ductus ejaculatorii	http://purl.obolibrary.org/obo/UBERON_0000999	The Ejaculatory ducts (ductus ejaculatorii) are paired structures in male anatomy, about 2 cm in length. Each ejaculatory duct is formed by the union of the vas deferens with the duct of the seminal vesicle. They pass through the prostate, and empty into the urethra at the Colliculus seminalis. During ejaculation, semen passes through the ducts and exits the body via the penis[WP,unvetted].	
UBERON:0010323	cranial skeletal system	biolink:AnatomicalEntity	mondo			osteocranium|cranium|cranial skeleton	http://purl.obolibrary.org/obo/UBERON_0010323	Skeletal subdivision of the head including skull (cranium plus mandible), pharyngeal and/or hyoid apparatus.	
UBERON:0010321	skeletal element of eye region	biolink:AnatomicalEntity	mondo			skeletal element of orbital region|eye skeleton|ocular skeleton	http://purl.obolibrary.org/obo/UBERON_0010321	A skeletal element that is part of a orbital region.	
UBERON:0010316	germ layer / neural crest	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010316		
HGNC:5004	HMGB3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5004		
UBERON:0010313	neural crest-derived structure	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010313	An anatomical structure that develops from the neural crest.	
HGNC:5005	HMGCL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5005		
UBERON:0010314	structure with developmental contribution from neural crest	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010314	An anatomical structure that has some part that develops from the neural crest.	
HGNC:5008	HMGCS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5008		
HGNC:5009	HMGA2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5009		
HGNC:7660	NCF1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7660		
HGNC:7662	NCF4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7662		
HGNC:409	ALDH1A3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/409		
HGNC:7661	NCF2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7661		
HGNC:408	ALDH5A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/408		
HGNC:406	ALDH4A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/406		
UBERON:0000989	penis	biolink:AnatomicalEntity	mondo			phallus|penes	http://purl.obolibrary.org/obo/UBERON_0000989	A intromittent organ in certain biologically male organisms. In placental mammals, this also serves as the organ of urination	
OBO:mondo#excluded_subClassOf	excluded subClassOf	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/mondo#excluded_subClassOf		
HGNC:427	ALK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/427		
UBERON:0000985	axillary vein	biolink:AnatomicalEntity	mondo			subcostal vein|vena axillaris	http://purl.obolibrary.org/obo/UBERON_0000985	Vein that drains the axilla	
UBERON:0000988	pons	biolink:AnatomicalEntity	mondo			pons Varolii|pons cerebri|pons of Varolius	http://purl.obolibrary.org/obo/UBERON_0000988	The part of the central nervous system lying between the medulla oblongata and the midbrain, ventral to the cerebellum.	
UBERON:0010312	immature eye	biolink:AnatomicalEntity	mondo			future eye	http://purl.obolibrary.org/obo/UBERON_0010312	Developing anatomical structure that develops into the eyeball and associated structures.	
UBERON:0010304	non-keratinized stratified squamous epithelium	biolink:AnatomicalEntity	mondo			stratified squamous nonkeratinizing epithelium|nonkeratinizing stratified squamous epithelium|stratified squamous non-keratinized epithelium|epithelium stratificatum squamosum noncornificatum	http://purl.obolibrary.org/obo/UBERON_0010304	Stratified squamous epithelium is a stratified squamous epithelium, the cells of which synthesizes but does not accumulate keratin. Examples: epithelium of vagina, epithelium of wall of esophagus.	
HGNC:7677	NSMCE3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7677		
UBERON:0010305	subdivision of conjunctiva	biolink:AnatomicalEntity	mondo			region of conjunctiva|conjunctiva region	http://purl.obolibrary.org/obo/UBERON_0010305	One of the three major regions of the conjunctiva.	
HGNC:7679	NDRG1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7679		
UBERON:0010303	extraembryonic epithelium	biolink:AnatomicalEntity	mondo			extra-embryonic epithelium	http://purl.obolibrary.org/obo/UBERON_0010303	An epithelium that is part of a extraembryonic structure.	
HGNC:5017	HMX1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5017		
HGNC:7678	NDP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7678		
UBERON:0010309	palpebral bone	biolink:AnatomicalEntity	mondo			palpebral	http://purl.obolibrary.org/obo/UBERON_0010309	An ossified element investing the upper eyelid.	
UBERON:0000992	ovary	biolink:AnatomicalEntity	mondo			gonada of female organism reproductive system|female reproductive system gonad|genitalia of female organism gonad|gonad of female organism reproductive system|female gonad|ovarium|female organism genitalia gonada|reproductive system of female organism gonad|gonada of female organism genitalia|female organism reproductive system gonad|gonad of female organism genitalia|gonad of female reproductive system|gonad of genitalia of female organism|gonada of genitalia of female organism|ovum-producing ovary|gonada of female reproductive system|female organism reproductive system gonada|reproductive system of female organism gonada|animal ovary|female organism genitalia gonad|gonad of reproductive system of female organism|gonada of reproductive system of female organism|ovaries|genitalia of female organism gonada|female reproductive system gonada	http://purl.obolibrary.org/obo/UBERON_0000992	the gonad of a female organism which contains germ cells	
UBERON:0000993	oviduct	biolink:AnatomicalEntity	mondo			ovarian tube|ovarian duct|tuba uterinae|uterine tube|tubular parts of female reproductive system|tuba uterina|oviducts|female reproductive tracts	http://purl.obolibrary.org/obo/UBERON_0000993	A tube or collection of tubes in an animal from the ovaries to the outside of the body.	
HGNC:7671	NCOA4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7671		
UBERON:0000995	uterus	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0000995	the female muscular organ of gestation in which the developing embryo or fetus is nourished until birth	
HGNC:5010	HMGA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5010		
UBERON:0000990	reproductive system	biolink:AnatomicalEntity	mondo			Geschlechtsorgan|genital tract|reproductive tissue|genital system|reproductive tract|animal reproductive system|genitalia|organa genitalia|systemata genitalia	http://purl.obolibrary.org/obo/UBERON_0000990	Anatomical system that has as its parts the organs concerned with reproduction.	
HGNC:5012	HMMR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5012		
HGNC:7675	NDN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7675		
HGNC:417	ALDOB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/417		
UBERON:0000991	gonad	biolink:AnatomicalEntity	mondo			gonads|gonada	http://purl.obolibrary.org/obo/UBERON_0000991	Reproductive organ that produces and releases eggs (ovary) or sperm (testis).	
HGNC:5013	HMOX1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5013		
ENVO:01000435	montane forest	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000435		
GO:0050309	sugar-terminal-phosphatase activity	biolink:OntologyClass	mondo			sugar-omega-phosphate phosphohydrolase activity|xylitol-5-phosphatase activity	http://purl.obolibrary.org/obo/GO_0050309	Catalysis of the reaction: H2O + sugar phosphorylated on the terminal carbon = a sugar + phosphate.	
CL:0000006	neuronal receptor cell	biolink:Cell	mondo			neuronal receptor cell (sensu Animalia)	http://purl.obolibrary.org/obo/CL_0000006		
CL:0000008	migratory cranial neural crest cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000008	Cell that is part of the migratory cranial neural crest population. Migratory cranial neural crest cells develop from premigratory cranial neural crest cells and have undergone epithelial to mesenchymal transition and delamination.	
GO:0050308	sugar-phosphatase activity	biolink:OntologyClass	mondo			sugar-phosphate phosphatase activity|sugar-phosphate phosphohydrolase activity	http://purl.obolibrary.org/obo/GO_0050308	Catalysis of the reaction: sugar phosphate + H2O = sugar + phosphate.	
CL:0000000	cell	biolink:Cell	mondo	KUPO:0000002|GO:0005623|CALOHA:TS-2035|XAO:0003012|FMA:68646|WBbt:0004017|VHOG:0001533	_upper_level		http://purl.obolibrary.org/obo/CL_0000000	A material entity of anatomical origin (part of or deriving from an organism) that has as its parts a maximally connected cell compartment surrounded by a plasma membrane.	
CL:0000003	native cell	biolink:Cell	mondo	CARO:0000013	_upper_level	cell in vivo	http://purl.obolibrary.org/obo/CL_0000003	A cell that is found in a natural setting, which includes multicellular organism cells 'in vivo' (i.e. part of an organism), and unicellular organisms 'in environment' (i.e. part of a natural environment).	
CL:0000005	fibroblast neural crest derived	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000005	Any fibroblast that is deriived from the neural crest.	
ENVO:01000420	building part	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000420	A building part is a construction which is part of a building.	
CL:0000017	spermatocyte	biolink:Cell	mondo	FBbt:00004936|WBbt:0006799|CALOHA:TS-0951|BTO:0001275|EMAPA:31484|FMA:84049			http://purl.obolibrary.org/obo/CL_0000017	A male germ cell that develops from spermatogonia. The euploid primary spermatocytes undergo meiosis and give rise to the haploid secondary spermatocytes which in turn give rise to spermatids.	
CL:0000018	spermatid	biolink:Cell	mondo	WBbt:0006800|EMAPA:31486|CALOHA:TS-0950|FMA:72294|BTO:0001274|FBbt:00004942		nematoblast	http://purl.obolibrary.org/obo/CL_0000018	A male germ cell that develops from the haploid secondary spermatocytes. Without further division, spermatids undergo structural changes and give rise to spermatozoa.	
CL:0002679	natural helper lymphocyte	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002679	A lymphocyte found in adipose tissue that lacks lineage markers of other lymphocytes but is capable of mediating TH2 cytokine responses. This cell type is found in fat associated lymphoid clusters, proliferates in response to IL2 and produce large amounts of TH2 cytokines such as IL5, IL6 and IL13	
CL:0000019	sperm	biolink:Cell	mondo	BTO:0001277|WBbt:0006798|BTO:0002046|FBbt:00004954|CALOHA:TS-0949|FMA:67338		sperm cell|spermatozoon|spermatozoid	http://purl.obolibrary.org/obo/CL_0000019	A mature male germ cell that develops from a spermatid.	
CL:0002672	retinal progenitor cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002672	A multi-fate stem cell that can give rise to different retinal cell types including rod and cone cells.	
CL:0000011	migratory trunk neural crest cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000011	Cell that is part of the migratory trunk neural crest population. Migratory trunk neural crest cells develop from premigratory trunk neural crest cells and have undergone epithelial to mesenchymal transition and delamination.	
CL:0002676	neural crest derived neuroblast	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002676	A neuroblast derived from a neural crest cell.	
CL:0000014	germ line stem cell	biolink:Cell	mondo			germline stem cell	http://purl.obolibrary.org/obo/CL_0000014		
CL:0000015	male germ cell	biolink:Cell	mondo	ncithesaurus:Spermatogenic_Cell|VHOG:0001531|FMA:72290|MA:0002765			http://purl.obolibrary.org/obo/CL_0000015	Male germ cell is a germ cell that supports male gamete production.	
NCBITaxon:181088	Haemaphysalis flava	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_181088		
HGNC:26594	DOK7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26594		
ENVO:04000010	soil surface layer	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_04000010	A surface layer which is composed primarily of soil.	
ENVO:04000006	concentration of carbon dioxide in seawater	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_04000006	The concentration of carbon dioxide when measured in seawater.	
ENVO:04000004	concentration of carbon dioxide in air	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_04000004	The concentration of carbon dioxide when measured in air.	
ENVO:04000003	concentration of carbon dioxide in soil	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_04000003	The concentration of carbon dioxide when measured in soil.	
CHEBI:8386	pregnane	biolink:ChemicalSubstance	mondo			pregnane	http://purl.obolibrary.org/obo/CHEBI_8386		
GO:0003995	acyl-CoA dehydrogenase activity	biolink:OntologyClass	mondo			acyl-CoA reductase activity|acyl dehydrogenase activity|fatty acyl coenzyme A dehydrogenase activity|long-chain acyl coenzyme A dehydrogenase activity|acyl coenzyme A dehydrogenase activity|acyl CoA dehydrogenase activity|medium-chain acyl-CoA dehydrogenase activity|fatty-acyl-CoA dehydrogenase activity|acyl-CoA:acceptor 2,3-oxidoreductase activity|long-chain acyl-CoA dehydrogenase activity|medium-chain acyl-coenzyme A dehydrogenase activity|general acyl CoA dehydrogenase activity|acyl-CoA:(acceptor) 2,3-oxidoreductase activity	http://purl.obolibrary.org/obo/GO_0003995	Catalysis of the reaction: acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor.	
CL:0002625	seminiferous tubule epithelial cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002625	A cell of the seminiferous tubule epithelium.	
NCBITaxon:2611341	Metamonada	organism taxon	mondo	GC_ID:1|PMID:30257078			http://purl.obolibrary.org/obo/NCBITaxon_2611341		
HGNC:26576	KY	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26576		
HGNC:26575	PRIMPOL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26575		
CHEBI:50047	organic amino compound	biolink:ChemicalSubstance	mondo			organic amino compounds	http://purl.obolibrary.org/obo/CHEBI_50047	A compound formally derived from ammonia by replacing one, two or three hydrogen atoms by organyl groups.	
NCBITaxon:2611352	Discoba	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2611352		
HGNC:26582	UNC80	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26582		
GO:0015986	ATP synthesis coupled proton transport	biolink:OntologyClass	mondo			chemiosmosis	http://purl.obolibrary.org/obo/GO_0015986	The transport of protons across a membrane to generate an electrochemical gradient (proton-motive force) that powers ATP synthesis.	
CL:0002632	epithelial cell of lower respiratory tract	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002632		
GO:0015985	energy coupled proton transport, down electrochemical gradient	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0015985	The transport of protons across a membrane to generate an electrochemical gradient (proton-motive force) that provides energy for the synthesis of ATP or GTP.	
GO:0015980	energy derivation by oxidation of organic compounds	biolink:OntologyClass	mondo			chemoorganotrophy	http://purl.obolibrary.org/obo/GO_0015980	The chemical reactions and pathways by which a cell derives energy from organic compounds; results in the oxidation of the compounds from which energy is released.	
HGNC:26559	ZFYVE27	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26559		
HGNC:26558	HYLS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26558		
GO:1904539	negative regulation of glycolytic process through fructose-6-phosphate	biolink:OntologyClass	mondo			downregulation of glycolytic process through fructose-6-phosphate|downregulation of glycolysis through fructose-6-phosphate|down-regulation of glycolysis through fructose-6-phosphate|down-regulation of glycolytic process through fructose-6-phosphate|negative regulation of glycolysis through fructose-6-phosphate|down regulation of glycolysis through fructose-6-phosphate|down regulation of glycolytic process through fructose-6-phosphate|inhibition of glycolytic process through fructose-6-phosphate|inhibition of glycolysis through fructose-6-phosphate	http://purl.obolibrary.org/obo/GO_1904539	Any process that stops, prevents or reduces the frequency, rate or extent of glycolytic process through fructose-6-phosphate.	
HGNC:497	TRPA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/497		
GO:1904538	regulation of glycolytic process through fructose-6-phosphate	biolink:OntologyClass	mondo			regulation of glycolysis through fructose-6-phosphate	http://purl.obolibrary.org/obo/GO_1904538	Any process that modulates the frequency, rate or extent of glycolytic process through fructose-6-phosphate.	
HGNC:26551	DZIP1L	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26551		
HGNC:496	RIPK4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/496		
HGNC:494	ANK3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/494		
HGNC:493	ANK2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/493		
HGNC:492	ANK1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/492		
HGNC:491	ANGPTL3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/491		
GO:1904540	positive regulation of glycolytic process through fructose-6-phosphate	biolink:OntologyClass	mondo			upregulation of glycolysis through fructose-6-phosphate|upregulation of glycolytic process through fructose-6-phosphate|up-regulation of glycolytic process through fructose-6-phosphate|up-regulation of glycolysis through fructose-6-phosphate|up regulation of glycolytic process through fructose-6-phosphate|up regulation of glycolysis through fructose-6-phosphate|activation of glycolysis through fructose-6-phosphate|activation of glycolytic process through fructose-6-phosphate|positive regulation of glycolysis through fructose-6-phosphate	http://purl.obolibrary.org/obo/GO_1904540	Any process that activates or increases the frequency, rate or extent of glycolytic process through fructose-6-phosphate.	
HGNC:14579	VPS45	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14579		
HGNC:26560	ODAD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26560		
ENVO:01000406	snow	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000406	Snow is an environmental material which is primarily composed of flakes of crystalline water ice.	
ENVO:01000408	environmental zone	biolink:OntologyClass	mondo			environmental area	http://purl.obolibrary.org/obo/ENVO_01000408	A site which has its extent determined by the presence or influence of one or more components of an environmental system or the processes occurring therein.	
HGNC:14581	PINK1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14581		
HGNC:14583	VPS11	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14583		
FOODON:03430130	food (liquid)	biolink:OntologyClass	mondo	SUBSET_SIREN:F5105			http://purl.obolibrary.org/obo/FOODON_03430130	A state of matter between a solid and a gas, in which a substance has the capacity to flow and conforms to the shape of the container. Liquids range from water to honey, corresponding to a range in viscosity (or apparent viscosity) from 1 to 500 centipoise (viscosity is a measure of a liquid's resistance to flow). Products that are pourable but have a higher viscosity are *SEMILIQUID*.	
FOODON:03430131	whole	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03430131	Refers to natural or formed shape as appropriate, regardless of size, which may vary from very large (e.g., beef carcass) to very small (e.g., poppy seed, yeast cell).	
HGNC:26530	CFAP53	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26530		
MONDO:0013598	myostatin-related muscle hypertrophy	biolink:Disease	mondo	GARD:0010238|DOID:0111072|MESH:C536106|HGNC:4223|ICD9:756.89|SCTID:699185005|OMIM:614160|Orphanet:275534	ordo_disease|gard_rare	muscle hypertrophy; MSLHP|muscle hypertrophy|MSLHP	http://purl.obolibrary.org/obo/MONDO_0013598	Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. This condition is not known to cause any medical problems, and affected individuals are intellectually normal. Myostatin-related muscle hypertrophy is caused by mutations in the MSTN gene. It follows an incomplete autosomal dominant pattern of inheritance.	MESH:C536106|DOID:0111072|UMLS:C2931112|SNOMEDCT:699185005|ORPHA:275534|http://identifiers.org/omim/614160
MONDO:0013599	autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome	biolink:Disease	mondo	Orphanet:391487|UMLS:C3279990|GARD:0012314|ICD10:K63.9|OMIM:614162	predisposition|ordo_disease	familial chronic mucocutaneous, autosomal dominant|immunodeficiency type 31C|IMD31C|CANDF7|candidiasis familial, 7|candidiasis familial chronic mucocutaneous, autosomal dominant|candidiasis, familial, 7|candidiasis, familial chronic mucocutaneous, autosomal dominant|immunodeficiency 31C|immunodeficiency 31C; IMD31C	http://purl.obolibrary.org/obo/MONDO_0013599	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.	ORPHA:391487|UMLS:C3279990|http://identifiers.org/omim/614162
MONDO:0013596	obsolete nonsyndromic congenital nail disorder 10	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0013596		
MONDO:0013597	platelet-type bleeding disorder 14	biolink:Disease	mondo	UMLS:C0398635|SCTID:234477002|OMIM:614158|DOID:0111047|MESH:C562866		thromboxane synthetase deficiency|TBXAS1 inherited bleeding disorder, platelet-type|inherited bleeding disorder, platelet-type caused by mutation in TBXAS1|bleeding disorder, platelet-type, 14|bleeding disorder, platelet-type, 14; BDPLT14|thromboxane synthase deficiency|BDPLT14	http://purl.obolibrary.org/obo/MONDO_0013597	Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the TBXAS1 gene.	DOID:0111047|UMLS:C0398635|MESH:C562866|http://identifiers.org/omim/614158|SNOMEDCT:234477002
HGNC:14558	CLEC7A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14558		
MONDO:0013590	Stickler syndrome, type 4	biolink:Disease	mondo	OMIM:614134		STICKLER syndrome, type IV; STL4|STICKLER syndrome, type IV|COL9A1 autosomal recessive Stickler syndrome|STL4|autosomal recessive Stickler syndrome caused by mutation in COL9A1	http://purl.obolibrary.org/obo/MONDO_0013590	Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A1 gene.	http://identifiers.org/omim/614134
MONDO:0013591	epiphyseal dysplasia, multiple, 6	biolink:Disease	mondo	DOID:0070301|UMLS:C2675767|OMIM:614135|GARD:0013376	gard_rare	epiphyseal dysplasia, multiple, type 6|EDM6|multiple epiphyseal dysplasia (disease) caused by mutation in COL9A1|multiple epiphyseal dysplasia 6|epiphyseal dysplasia, multiple, 6|COL9A1 multiple epiphyseal dysplasia (disease)|epiphyseal dysplasia, multiple, 6; EDM6	http://purl.obolibrary.org/obo/MONDO_0013591	Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A1 gene.	UMLS:C2675767|http://identifiers.org/omim/614135|DOID:0070301
CL:0000081	blood cell	biolink:Cell	mondo	FMA:62844			http://purl.obolibrary.org/obo/CL_0000081	A cell found predominately in the blood.	
MONDO:0013594	spinocerebellar ataxia type 36	biolink:Disease	mondo	DOID:0050983|OMIM:614153|GARD:0012367|Orphanet:276198|UMLS:C3472711|SCTID:711158005|ICD10:G11.8|NCIT:C148316	ordo_disease	spinocerebellar ataxia 36|spinocerebellar ataxia type 36|Asidan|spinocerebellar ataxia 36; SCA36|SCA36	http://purl.obolibrary.org/obo/MONDO_0013594	Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia.	SNOMEDCT:711158005|DOID:0050983|ORPHA:276198|http://identifiers.org/omim/614153|NCIT:C148316|UMLS:C3472711
MONDO:0013595	hyperbiliverdinemia	biolink:Disease	mondo	UMLS:C3279964|OMIM:614156|ICD10:K76.8|Orphanet:276405	ordo_disease	HBLVD|hyperbiliverdinemia|hyperbiliverdinemia; HBLVD|green jaundice	http://purl.obolibrary.org/obo/MONDO_0013595	Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported.	UMLS:C3279964|ORPHA:276405|http://identifiers.org/omim/614156
CL:0000083	epithelial cell of pancreas	biolink:Cell	mondo	BTO:0000028		pancreas epithelial cell|pancreatic epithelial cell	http://purl.obolibrary.org/obo/CL_0000083	An epithelial cell of the pancreas.	
MONDO:0013592	nonsyndromic congenital nail disorder 9	biolink:Disease	mondo	OMIM:614149|SCTID:87065009|DOID:0080087|UMLS:C3279947|ICD9:703.8		nail disorder, nonsyndromic congenital, 9; NDNC9|nonsyndromic congenital nail disorder type 9|onychodystrophy|NDNC9|anonychia-onycholysis, isolated|nail disorder, nonsyndromic congenital, 9|nail dysplasia	http://purl.obolibrary.org/obo/MONDO_0013592		SNOMEDCT:87065009|UMLS:C3279947|http://identifiers.org/omim/614149|DOID:0080087
CL:0000084	T cell	biolink:Cell	mondo	FMA:62870|VHOG:0001479|BTO:0000782|CALOHA:TS-1001		T-lymphocyte|mature T cell|immature T cell|T-cell|T lymphocyte	http://purl.obolibrary.org/obo/CL_0000084	A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex.	
MONDO:0013593	autosomal dominant nonsyndromic deafness 64	biolink:Disease	mondo	UMLS:C3279948|DOID:0110585|ICD10:H90.3|OMIM:614152	clingen	deafness, autosomal dominant 64; DFNA64|autosomal dominant nonsyndromic deafness caused by mutation in DIABLO|DIABLO autosomal dominant nonsyndromic deafness|deafness, autosomal dominant type 64|autosomal dominant nonsyndromic deafness type 64|DFNA64|autosomal dominant deafness 64|deafness, autosomal dominant 64	http://purl.obolibrary.org/obo/MONDO_0013593	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIABLO gene.	UMLS:C3279948|DOID:0110585|http://identifiers.org/omim/614152
HGNC:14550	CDHR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14550		
NCBITaxon:1131492	Aspergillaceae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1131492		
MONDO:0013587	glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	biolink:Disease	mondo	GARD:0003161|MESH:C563641|UMLS:C3279904|ICD10:E74.0|Orphanet:284435|OMIM:614128	gard_rare|ordo_clinical_subtype	GSD due to lactate dehydrogenase H-subunit deficiency|lactate dehydrogenase deficiency type B|LDH-H subunit deficiency|LDH deficiency B|lactate dehydrogenase B deficiency|LDHBD|lactate dehydrogenase B deficiency; LDHBD|glycogenosis due to lactate dehydrogenase H-subunit deficiency	http://purl.obolibrary.org/obo/MONDO_0013587	A condition that affects how the body breaks down sugar to use as energy in muscle cells. Unlike people with lactate dehydrogenase A deficiency, people with this condition typically do not have any signs or symptoms. It is unclear why this condition does not cause any health problems. Affected people are usually diagnosed when routine blood tests reveal reduced activity of the enzyme lactate dehydrogenase. LDHBD is caused by mutations in the LDHB gene and is inherited in an autosomal recessive manner.	ORPHA:284435|UMLS:C3279904|MESH:C563641|http://identifiers.org/omim/614128
CL:0000097	mast cell	biolink:Cell	mondo	FMA:66784|BTO:0000830|CALOHA:TS-0603		histaminocyte|mastocyte|labrocyte|tissue basophil	http://purl.obolibrary.org/obo/CL_0000097	A cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. Progenitors leave bone marrow and mature in connective and mucosal tissue. Mature mast cells are found in all tissues, except the bloodstream. Their phenotype is CD117-high, CD123-negative, CD193-positive, CD200R3-positive, and FceRI-high. Stem-cell factor (KIT-ligand; SCF) is the main controlling signal of their survival and development.	
MONDO:0013588	Perrault syndrome 3	biolink:Disease	mondo	UMLS:C3808414|OMIM:614129		CLPP Perrault syndrome|deafness, autosomal recessive 81, formerly|PRLTS3|Perrault syndrome caused by mutation in CLPP|deafness, autosomal recessive 81|Perrault syndrome type 3|Perrault syndrome 3; PRLTS3|Perrault syndrome 3	http://purl.obolibrary.org/obo/MONDO_0013588	Any Perrault syndrome in which the cause of the disease is a mutation in the CLPP gene.	UMLS:C3808414|http://identifiers.org/omim/614129
CL:0000098	sensory epithelial cell	biolink:Cell	mondo	BTO:0004301		neuroepithelial cell	http://purl.obolibrary.org/obo/CL_0000098	A specialized epithelial cell involved in sensory perception. Restricted to special sense organs of the olfactory, gustatory, and vestibulocochlear receptor systems; contain sensory cells surrounded by supportive, non-receptive cells.	
MONDO:0013585	hydrolethalus syndrome 2	biolink:Disease	mondo	DOID:0111356|OMIM:614120|UMLS:C3279899		hydrolethalus syndrome 2; HLS2|HLS2|hydrolethalus syndrome caused by mutation in KIF7|hydrolethalus syndrome 2|KIF7 hydrolethalus syndrome|hydrolethalus syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0013585	Any hydrolethalus syndrome in which the cause of the disease is a mutation in the KIF7 gene.	DOID:0111356|UMLS:C3279899|http://identifiers.org/omim/614120
MONDO:0013586	Chitotriosidase deficiency	biolink:Disease	mondo	OMIM:614122|UMLS:C3279902		CHITD|Chitotriosidase deficiency|CHITOTRIOSIDASE deficiency; CHITD	http://purl.obolibrary.org/obo/MONDO_0013586		UMLS:C3279902|http://identifiers.org/omim/614122
MONDO:0013589	focal segmental glomerulosclerosis 6	biolink:Disease	mondo	DOID:0111131|OMIM:614131|UMLS:C3279905|ICD10:N04.1		focal segmental glomerulosclerosis 6; FSGS6|MYO1E focal segmental glomerulosclerosis|FSGS6|focal segmental glomerulosclerosis 6|glomerulosclerosis, focal segmental, 6|focal segmental glomerulosclerosis type 6|focal segmental glomerulosclerosis caused by mutation in MYO1E	http://purl.obolibrary.org/obo/MONDO_0013589	Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the MYO1E gene.	DOID:0111131|UMLS:C3279905|http://identifiers.org/omim/614131
MONDO:0013580	pyruvate dehydrogenase E1-beta deficiency	biolink:Disease	mondo	Orphanet:255138|OMIM:614111|MESH:C566729|ICD10:E74.4|UMLS:C3279841	ordo_clinical_subtype	pyruvate dehydrogenase E1-BETA deficiency; PDHBD|PDHBD|pyruvate dehydrogenase E1-beta deficiency|pyruvate dehydrogenase complex E1 component subunit beta deficiency	http://purl.obolibrary.org/obo/MONDO_0013580	Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia.	ORPHA:255138|MESH:C566729|UMLS:C3279841|http://identifiers.org/omim/614111
MONDO:0013583	occipital pachygyria and polymicrogyria	biolink:Disease	mondo	OMIM:614115|Orphanet:280640|UMLS:C3279875|ICD10:Q04.3	ordo_malformation_syndrome	occipital malformations of cortical development|OCCM|occipital MCD|cortical malformations, occipital|cortical malformations, occipital; OCCM	http://purl.obolibrary.org/obo/MONDO_0013583		UMLS:C3279875|ORPHA:280640|http://identifiers.org/omim/614115
MONDO:0013584	hereditary sensory neuropathy-deafness-dementia syndrome	biolink:Disease	mondo	DOID:0070158|MESH:C580162|ICD10:G60.8|UMLS:C3279885|GARD:11927|Orphanet:456318|OMIM:614116|GARD:0011927	ordo_disease	HSNIE|hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome|hereditary sensory neuropathy with hearing loss and dementia|hereditary sensory neuropathy type 1E|neuropathy, hereditary sensory, type IE; HSN1E|HSN1E|hereditary sensory neuropathy type IE|DNMT1-related dementia, deafness, and sensory neuropathy|HSAN1E|neuropathy, hereditary sensory, type IE|hereditary sensory and autonomic neuropathy type 1E|neuropathy, hereditary sensory, type 1E|HSN 1E|neuropathy, hereditary sensory, with hearing loss and dementia	http://purl.obolibrary.org/obo/MONDO_0013584	A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13.	UMLS:C3279885|MESH:C580162|ORPHA:456318|DOID:0070158|http://identifiers.org/omim/614116
CL:0000094	granulocyte	biolink:Cell	mondo	CALOHA:TS-0422|BTO:0000539|FMA:62854|BTO:0001026		granular leucocyte|polymorphonuclear leukocyte|granular leukocyte	http://purl.obolibrary.org/obo/CL_0000094	A leukocyte with abundant granules in the cytoplasm.	
MONDO:0013581	intellectual disability, autosomal dominant 2	biolink:Disease	mondo	UMLS:C3279842|OMIM:614113|DOID:0070032		autosomal dominant intellectual disability 2|mental retardation, autosomal dominant 2|intellectual disability, autosomal dominant type 2|mental retardation, autosomal dominant type 2|autosomal dominant non-syndromic intellectual disability 2|autosomal dominant non-syndromic intellectual disability caused by mutation in DOCK8|intellectual disability, autosomal dominant 2|autosomal dominant mental retardation 2|intellectual disability, autosomal dominant 2; MRD2|mental retardation, autosomal dominant 2; MRD2|DOCK8 autosomal dominant non-syndromic intellectual disability|MRD2	http://purl.obolibrary.org/obo/MONDO_0013581	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DOCK8 gene.	UMLS:C3279842|DOID:0070032|http://identifiers.org/omim/614113
CL:0000095	neuron associated cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000095		
MONDO:0013582	mosaic variegated aneuploidy syndrome 2	biolink:Disease	mondo	UMLS:C3279843|OMIM:614114|DOID:0080142		CEP57 mosaic variegated aneuploidy syndrome|mosaic variegated aneuploidy syndrome 2|MOSAIC variegated aneuploidy syndrome 2; MVA2|MVA2|mosaic variegated aneuploidy syndrome caused by mutation in CEP57|mosaic variegated aneuploidy syndrome type 2|Mosaic variegated aneuploidy syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0013582	Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the CEP57 gene.	DOID:0080142|UMLS:C3279843|http://identifiers.org/omim/614114
HGNC:14561	ARHGEF9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14561		
MONDO:0001587	obsolete mucopolysaccharidosis type 4	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001587		
MONDO:0001586	mucopolysaccharidosis type 1	biolink:Disease	mondo	GARD:0010335|NCIT:C85053|SCTID:75610003|MedDRA:10056886|ICD10:E76.0|DOID:12802|Orphanet:579	ordo_disease	IDUA deficiency|MPSI|Alpha-L-iduronidase deficiency|MPS 1|Scheie syndrome (subtype) formerly known as Mucopoly-saccharidosis type V)|mucopolysaccharidosis I|Hurler-Scheie syndrome|iduronidase deficiency disease|severe MPS I (subtype, also known as Hurler syndrome)|attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome)|mucopolysaccharidosis, MPS-I|MPS I - Hurler syndrome|mucopolysaccharidosis, type 1|MPS1|MPS I|lipochondrodystrophy|Hurler-Scheie syndrome (subtype)|Hurler syndrome|mucopolysaccharidosis type I|mucopolysaccharidosis type 1|Hurler syndrome (subtype)	http://purl.obolibrary.org/obo/MONDO_0001586	The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome).	MEDDRA:10056886|UMLS:C2713321|SNOMEDCT:75610003|MESH:D008059|ORPHA:579|NCIT:C85053|UMLS:C0023786|DOID:12802
FOODON:03430150	whole, natural shape	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03430150		
MONDO:0001585	hallucinogen abuse	biolink:Disease	mondo	ICD9:305.3|SCTID:74851005|ICD10:F16.1|DOID:12797			http://purl.obolibrary.org/obo/MONDO_0001585	A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences.	SNOMEDCT:74851005|DOID:12797
MONDO:0025556	isocyanate induced asthma	biolink:Disease	mondo	SCTID:404808000|DOID:0040041|ICD9:506.3|UMLS:C1321273		isocyanates allergic asthma	http://purl.obolibrary.org/obo/MONDO_0025556		DOID:0040041|UMLS:C1321273|SNOMEDCT:404808000
HGNC:26513	NSMCE2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26513		
CHEBI:76668	EC 2.7.* (P-containing group transferase) inhibitor	biolink:ChemicalSubstance	mondo			EC 2.7.* (phosphorus-containing group transferase) inhibitors|EC 2.7.* inhibitor|EC 2.7.* (P-containing group transferase) inhibitors|phosphorus-containing group transferase inhibitors|phosphorus-containing group transferase (EC 2.7.*) inhibitors|phosphorus-containing group transferase (EC 2.7.*) inhibitor|phosphorus-containing group transferase inhibitor|EC 2.7.* inhibitors|EC 2.7.* (phosphorus-containing group transferase) inhibitor	http://purl.obolibrary.org/obo/CHEBI_76668	A transferase inhibitor that inhibits the action of a phosphorus-containing group transferase (EC 2.7.*.*).	
MONDO:0001584	ocular motility disease	biolink:Disease	mondo	ICD9:378.9|DOID:1279|COHD:377885|EFO:1001990|GARD:0007237|SCTID:45030009		disorder of eye movements|eye movement disorder	http://purl.obolibrary.org/obo/MONDO_0001584		DOID:1279|SNOMEDCT:45030009
MONDO:0001589	obsolete vaginal enterocele	biolink:Disease	mondo	ICD10:N81.5|ICD10:K46|ICD9:618.6|DOID:1283|COHD:4162218|SCTID:398061002		enterocele|vaginal hernia	http://purl.obolibrary.org/obo/MONDO_0001589		SNOMEDCT:398061002|DOID:1283
MONDO:0001588	chronic lacrimal gland enlargement	biolink:Disease	mondo	COHD:381867|ICD9:375.03|DOID:12809|SCTID:4839005|UMLS:C1300133|ICD10:H04.03		chronic enlargement of lacrimal gland	http://purl.obolibrary.org/obo/MONDO_0001588		UMLS:C1300133|SNOMEDCT:4839005|DOID:12809
MONDO:0001583	diabetic polyneuropathy	biolink:Disease	mondo	ICD9:357.2|UMLS:C0271680|ICD10:G63.2|COHD:376112|DOID:12785|SCTID:49455004		polyneuropathy in diabetes|diabetes mellitus with polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0001583		UMLS:C0271680|SNOMEDCT:49455004|DOID:12785
MONDO:0001582	cicatricial ectropion	biolink:Disease	mondo	DOID:12782|SCTID:28914006|COHD:376699|UMLS:C0155196|ICD9:374.14			http://purl.obolibrary.org/obo/MONDO_0001582		UMLS:C0155196|DOID:12782|SNOMEDCT:28914006
CHEBI:15705	L-alpha-amino acid	biolink:ChemicalSubstance	mondo			L-Amino acid|L-2-Amino acid|L-alpha-amino acids|L-alpha-amino acids|L-alpha-amino acid	http://purl.obolibrary.org/obo/CHEBI_15705	Any alpha-amino acid having L-configuration at the alpha-carbon.	
MONDO:0001581	obsolete tolosa-hunt syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001581		
MONDO:0001580	lacrimal duct cancer	biolink:Disease	mondo	UMLS:C0153631|DOID:12756|NCIT:C3567|ICD9:190.7|SCTID:188274004		malignant neoplasm of lacrimal drainage system|malignant neoplasm of the lacrimal duct|malignant lacrimal drainage system neoplasm|malignant lacrimal duct tumor|malignant tumor of the lacrimal duct|malignant lacrimal duct neoplasm|cancer of lacrimal drainage system|malignant tumor of lacrimal duct|malignant neoplasm of lacrimal duct|lacrimal drainage system cancer	http://purl.obolibrary.org/obo/MONDO_0001580	A primary or metastatic malignant neoplasm affecting the lacrimal duct.	NCIT:C3567|DOID:12756|SNOMEDCT:188274004|UMLS:C0153631
MONDO:0013576	recurrent infections associated with rare immunoglobulin isotypes deficiency	biolink:Disease	mondo	Orphanet:183675|OMIM:614102|UMLS:C3279824|MESH:C564131	ordo_disease	IgG subclass deficiency with IgA subclass deficiency|kappa-chain deficiency|IGKCD|IMMUNOGLOBULIN kappa LIGHT chain deficiency; IGKCD|selective IgG subclass deficiency|IMMUNOGLOBULIN kappa LIGHT chain deficiency|isolated IgG subclass deficiency|kappa chain deficiency	http://purl.obolibrary.org/obo/MONDO_0013576	Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections.	http://identifiers.org/omim/614102|ORPHA:183675|MESH:C564131|UMLS:C3279824
CL:0000064	ciliated cell	biolink:Cell	mondo	XAO:0000031|VHOG:0001532			http://purl.obolibrary.org/obo/CL_0000064	A cell that has a filiform extrusion of the cell surface.	
HGNC:14537	NPC2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14537		
MONDO:0013577	Lipedema (disease)	biolink:Disease	mondo	Orphanet:77243|MESH:D065134|SCTID:234102003|OMIM:614103|ICD10:E65|MedDRA:10063955|HP:0100695	ordo_disease	lipedema	http://purl.obolibrary.org/obo/MONDO_0013577	Disorder of adipose tissue characterized by symmetric and bilateral enlargement of the lower extremities due to abnormal deposition of subcutaneous fat often in obese women. It is associated with hematoma, pain and may progress to secondary lymphedema which is known as lipolymphedema.	http://identifiers.org/omim/614103|UMLS:C0398370|SNOMEDCT:234102003|MESH:D065134|MEDDRA:10063955|ORPHA:77243
MONDO:0013574	cutis laxa - Marfanoid syndrome	biolink:Disease	mondo	UMLS:C0432335|Orphanet:171719|OMIM:614100|MESH:C563639|SCTID:254221009	ordo_malformation_syndrome	cutis laxa - Marfanoid syndrome|cutis laxa, neonatal, with MARFANOID phenotype	http://purl.obolibrary.org/obo/MONDO_0013574		SNOMEDCT:254221009|ORPHA:171719|UMLS:C0432335|MESH:C563639|http://identifiers.org/omim/614100
CL:0000066	epithelial cell	biolink:Cell	mondo	BTO:0000414|FMA:66768|WBbt:0003672|CARO:0000077|CALOHA:TS-2026|FBbt:00000124		epitheliocyte	http://purl.obolibrary.org/obo/CL_0000066	A cell that is usually found in a two-dimensional sheet with a free surface. The cell has a cytoskeleton that allows for tight cell to cell contact and for cell polarity where apical part is directed towards the lumen and the basal part to the basal lamina.	
HGNC:14539	RNF213	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14539		
CL:0000067	ciliated epithelial cell	biolink:Cell	mondo	FMA:70605			http://purl.obolibrary.org/obo/CL_0000067	An epithelial cell that has a cilia.	
MONDO:0013575	plasma fibronectin deficiency	biolink:Disease	mondo	OMIM:614101		plasma fibronectin deficiency	http://purl.obolibrary.org/obo/MONDO_0013575		http://identifiers.org/omim/614101
CL:0000068	duct epithelial cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000068	An epithelial cell that is part of a duct.	
CL:0000069	branched duct epithelial cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000069		
MONDO:0013578	DYRK1A-related intellectual disability syndrome	biolink:Disease	mondo	OMIM:614104|UMLS:C3279839|Orphanet:464306|DOID:0070037	ordo_malformation_syndrome	autosomal dominant mental retardation 7|mental retardation, autosomal dominant type 7|mental retardation, autosomal dominant 7; MRD7|mental retardation, autosomal dominant 7|autosomal dominant intellectual disability 7|intellectual disability, autosomal dominant 7; MRD7|intellectual disability, autosomal dominant type 7|MRD7|intellectual disability, autosomal dominant 7|autosomal dominant non-syndromic intellectual disability 7	http://purl.obolibrary.org/obo/MONDO_0013578	An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13.	DOID:0070037|http://identifiers.org/omim/614104|ORPHA:464306|UMLS:C3279839
MONDO:0013579	methylmalonate semialdehyde dehydrogenase deficiency	biolink:Disease	mondo	UMLS:C3279840|OMIM:614105|MESH:C566402|ICD10:E71.1|Orphanet:289307	ordo_disease	methylmalonate semialdehyde dehydrogenase deficiency|MMSDHD|methylmalonate semialdehyde dehydrogenase deficiency; MMSDHD|developmental delay due to ALDH6A1 deficiency|developmental delay due to MMSDH deficiency|MMSDH deficiency|developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0013579		http://identifiers.org/omim/614105|MESH:C566402|UMLS:C3279840|ORPHA:289307
MONDO:0013572	Keppen-Lubinsky syndrome	biolink:Disease	mondo	Orphanet:435628|OMIM:614098|UMLS:C3279800|ICD10:E88.1	ordo_malformation_syndrome	Keppen-Lubinsky syndrome|KEPPEN-Lubinsky syndrome; KPLBS|generalized lipodystrophy-progeroid features-severe intellectual disability syndrome|KPLBS	http://purl.obolibrary.org/obo/MONDO_0013572		UMLS:C3279800|ORPHA:435628|http://identifiers.org/omim/614098
ECTO:9000266	chemical entity exposure	biolink:OntologyClass	mondo			exposure to chemical entity	http://purl.obolibrary.org/obo/ECTO_9000266	An exposure to chemical entity.	
MONDO:0013573	cranioectodermal dysplasia 3	biolink:Disease	mondo	UMLS:C3279807|OMIM:614099		cranioectodermal dysplasia 3|cranioectodermal dysplasia caused by mutation in IFT43|CED3|CRANIOECTODERMAL dysplasia 3; CED3|Cranioectodermal dysplasia type 3|IFT43 cranioectodermal dysplasia	http://purl.obolibrary.org/obo/MONDO_0013573	Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene.	UMLS:C3279807|http://identifiers.org/omim/614099
MONDO:0013570	combined oxidative phosphorylation defect type 8	biolink:Disease	mondo	UMLS:C3279793|ICD10:I42.2|Orphanet:319504|DOID:0111479|OMIM:614096|UMLS:C4518839|SCTID:733600007	ordo_disease	combined oxidative phosphorylation deficiency type 8|cardiomyopathy, hypertrophic mitochondrial, fatal infantile|combined oxidative phosphorylation deficiency caused by mutation in AARS2|combined oxidative phosphorylation deficiency 8; COXPD8|combined oxidative phosphorylation deficiency 8|COXPD8|AARS2 combined oxidative phosphorylation deficiency	http://purl.obolibrary.org/obo/MONDO_0013570	Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement.	SNOMEDCT:733600007|UMLS:C3279793|DOID:0111479|http://identifiers.org/omim/614096|ORPHA:319504|UMLS:C4518839
CL:0000062	osteoblast	biolink:Cell	mondo	CALOHA:TS-0720|BTO:0001593|FMA:66780			http://purl.obolibrary.org/obo/CL_0000062	Skeletogenic cell that secretes osteoid, is capable of producing mineralized (hydroxyapatite) matrix, is located adjacent to or within osteoid tissue, and arises from the transformation of a preosteoblast cell.	
MONDO:0013571	acatalasia	biolink:Disease	mondo	SCTID:124202004|HGNC:1516|NCIT:C84526|MESH:D020642|DOID:2582|UMLS:C0268419|EFO:0004144|ICD9:277.6|OMIM:614097|ICD10:E80.3|GARD:0000363|Orphanet:926	ordo_disease	deficiency of catalase|catalase deficiency|acatalasemia|acatalasia	http://purl.obolibrary.org/obo/MONDO_0013571	Acatalasemia is a congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide.	ORPHA:926|DOID:2582|NCIT:C84526|SNOMEDCT:124202004|http://identifiers.org/omim/614097|MESH:D020642|UMLS:C0268419
MONDO:0001598	benign lymphoepithelial lesion of salivary gland	biolink:Disease	mondo	UMLS:C0266995|ICD9:527.8|ICD10:K11.8|NCIT:C3949|SCTID:45517002|DOID:12899		benign lymphoepithelial lesion of salivary gland|benign lymphoepithelial lesion of the salivary gland|benign salivary gland lymphoepithelial lesion|Godwin tumor	http://purl.obolibrary.org/obo/MONDO_0001598	A benign lesion that involves the salivary glands, usually the parotid gland. It affects females more often than males and it may be a manifestation of autoimmune diseases such as Sjogren syndrome. There is an increased incidence of benign lymphoepithelial lesions in HIV-positive patients. It is characterized by the presence of a marked lymphocytic infiltrate and epi-myoepithelial islands in the affected salivary gland. Patients usually present with firm and painless swelling of the affected salivary gland. There is an increased risk for development of lymphoma.	NCIT:C3949|SNOMEDCT:45517002|UMLS:C0266995|DOID:12899
MONDO:0001597	submandibular gland disease	biolink:Disease	mondo	UMLS:C0038557|MESH:D013364|DOID:12897		disease of submandibular gland|submandibular gland disease or disorder|disorder of submandibular gland|submandibular gland disease|disease or disorder of submandibular gland	http://purl.obolibrary.org/obo/MONDO_0001597	A disease involving the submandibular gland.	MESH:D013364|UMLS:C0038557|DOID:12897
MONDO:0001596	hypochondriasis	biolink:Disease	mondo	MESH:D006998|SCTID:18193002|COHD:434920|ICD10:F45.2|ICD10:F45.21|ICD9:300.7|DOID:12883		hypochondria|hypochondriacal neurosis|hypochondriacal disorder	http://purl.obolibrary.org/obo/MONDO_0001596	A somatoform disorder in which an individual is preoccupied with having a serious illness despite not having been given a corroborating diagnosis.	NCIT:C9493|DOID:12883|MESH:D006998|SNOMEDCT:18193002
MONDO:0001595	choreatic disease	biolink:Disease	mondo	SCTID:230298007|HP:0002072|DOID:12859|ICD10:G25.5|Orphanet:1429|MESH:D002819|ICD9:333.5|NCIT:C84633|EFO:0004152|SCTID:230306001	ordo_disease	chorea|hereditary benign chorea|hereditary chorea|benign familial chorea|hereditary progressive chorea without dementia|Bch|chorea, benign hereditary; BHC|BHC	http://purl.obolibrary.org/obo/MONDO_0001595	A neurological condition affecting the involuntary movements. It is characterized by brief, non-repetitive irregular muscle contractions. It is seen in patients with Huntington's disease.	MESH:D002819|ORPHA:1429|SNOMEDCT:230306001|SNOMEDCT:230298007|DOID:12859|NCIT:C84633|UMLS:C0393584
MONDO:0001599	obsolete Mikulicz disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001599		
HGNC:26527	HGSNAT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26527		
MONDO:0001590	quadriplegia	biolink:Disease	mondo	NCIT:C50721|DOID:12835|UMLS:C0034372|ICD9:344.09|COHD:374914|MESH:D011782|ICD9:344.00|ICD10:G82.50|SCTID:11538006|ICD10:G82.5		tetraplegia|bilateral diplegia	http://purl.obolibrary.org/obo/MONDO_0001590	Paralysis of all four limbs.	NCIT:C50721|SNOMEDCT:11538006|MESH:D011782|UMLS:C0034372|DOID:12835
CHEBI:62031	polar amino acid zwitterion	biolink:ChemicalSubstance	mondo			a polar amino acid	http://purl.obolibrary.org/obo/CHEBI_62031	Zwitterionic form of a polar amino acid having an anionic carboxy group and a protonated amino group.	
MONDO:0001594	Achilles bursitis	biolink:Disease	mondo	ICD9:726.71|ICD10:M76.6|DOID:12857|UMLS:C0149846|COHD:439524		Haglund's disease|capped hock|Haglund's deformity|Achilles bursitis or tendinitis	http://purl.obolibrary.org/obo/MONDO_0001594	An bursitis involving a pathogenic inflammatory response in the calcaneal tendon.	DOID:12857|UMLS:C0149846
MONDO:0001593	rectal disease	biolink:Disease	mondo	UMLS:C0034882|MESH:D012002|SCTID:5964004|ICD9:569.49|DOID:1285		rectum disease or disorder|disorder of rectum|disease of rectum|disease or disorder of rectum|rectum disease|rectal disorder	http://purl.obolibrary.org/obo/MONDO_0001593	A disease that involves the rectum.	MESH:D012002|SNOMEDCT:5964004|DOID:1285|UMLS:C0034882
HGNC:26521	LOXHD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26521		
MONDO:0001592	prolapse of female genital organ	biolink:Disease	mondo	SCTID:73998008|ICD10:N81|ICD9:618.89|ICD9:618.8|DOID:1284|UMLS:C0156349			http://purl.obolibrary.org/obo/MONDO_0001592		UMLS:C0156349|DOID:1284|SNOMEDCT:73998008
MONDO:0001591	senile entropion	biolink:Disease	mondo	COHD:372322|DOID:12836|ICD9:374.01|SCTID:55408009|UMLS:C0155188		involutional entropion	http://purl.obolibrary.org/obo/MONDO_0001591		UMLS:C0155188|SNOMEDCT:55408009|DOID:12836
MONDO:0013565	Fanconi anemia complementation group G	biolink:Disease	mondo	EFO:0009046|DOID:0111086|NCIT:C125708|OMIM:614082		Fanconi anemia, complementation group G; FANCG|Fanconi Anemia, complementation group type G|FANCG|Fanconi anemia, complementation group G|Fanconi anemia complementation group type G	http://purl.obolibrary.org/obo/MONDO_0013565	Fanconi anemia caused by mutations of the FANCG gene.	NCIT:C125708|http://identifiers.org/omim/614082|DOID:0111086
CL:0000075	columnar/cuboidal epithelial cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000075	A columnar/cuboidal epithelial cell is a cell usually found in a two dimensional sheet with a free surface. Columnar/cuboidal epithelial cells take on the shape of a column or cube.	
MONDO:0013566	Fanconi anemia complementation group L	biolink:Disease	mondo	OMIM:614083|DOID:0111082		Fanconi Anemia, complementation Group 50|FANCL|Fanconi anemia caused by mutation in FANCL|Fanconi anemia, complementation group L; FANCL|Fanconi Anemia, complementation group type 50|FANCL Fanconi anemia|Fanconi anemia, complementation group L|Fanconi anemia complementation group type L	http://purl.obolibrary.org/obo/MONDO_0013566	Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene.	http://identifiers.org/omim/614083|DOID:0111082
CL:0000076	squamous epithelial cell	biolink:Cell	mondo	CALOHA:TS-1249			http://purl.obolibrary.org/obo/CL_0000076		
MONDO:0013563	multiple congenital anomalies-hypotonia-seizures syndrome 1	biolink:Disease	mondo	DOID:0080138|ICD10:Q87.8|Orphanet:280633|OMIM:614080|GARD:0012781|UMLS:C3279775	ordo_malformation_syndrome	multiple congenital anomalies-hypotonia-seizures syndrome|multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGN|multiple congenital anomalies-hypotonia-seizures syndrome type 1|MCAHS1|multiple congenital anomalies-hypotonia-seizures syndrome 1; MCAHS1|multiple congenital anomalies-hypotonia-seizures syndrome 1|PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual disability|PIGN-CDG|glycosylphosphatidylinositol biosynthesis defect 3|congenital disorder of glycosylation due to PIGN deficiency|multiple congenital anomalies - hypotonia - seizures syndrome	http://purl.obolibrary.org/obo/MONDO_0013563	Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene.	http://identifiers.org/omim/614080|DOID:0080138|UMLS:C3279775|ORPHA:280633
CL:0000077	mesothelial cell	biolink:Cell	mondo	FMA:66773		mesotheliocyte	http://purl.obolibrary.org/obo/CL_0000077	A flattened epithelial cell of mesenchymal origin that lines the serous cavity.	
MONDO:0013564	anhaptoglobinemia	biolink:Disease	mondo	OMIM:614081|UMLS:C3279786		ANHAPTOGLOBINEMIA; AHP|anhaptoglobinemia|hypohaptoglobinemia|Ahaptoglobinemia|AHP	http://purl.obolibrary.org/obo/MONDO_0013564		http://identifiers.org/omim/614081|UMLS:C3279786
CL:0000079	stratified epithelial cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000079		
MONDO:0013569	short-rib thoracic dysplasia 7 with or without polydactyly	biolink:Disease	mondo	UMLS:C3279792|ICD10:Q77.2|OMIM:614091|DOID:0110090		short-rib thoracic dysplasia 7 with or without polydactyly|short rib-polydactyly syndrom type V|short-rib thoracic dysplasia 7 with or without polydactyly; SRTD7|short rib-polydactyly syndrome, type 5|SRPS5|SRTD7	http://purl.obolibrary.org/obo/MONDO_0013569	An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.	http://identifiers.org/omim/614091|DOID:0110090|UMLS:C3279792
HGNC:14544	WNK4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14544		
MONDO:0013567	atrial heart septal defect 3	biolink:Disease	mondo	UMLS:C3279790|MESH:C563540|ICD10:Q21.1|OMIM:614089|DOID:0110108		atrial heart septal defect type 3|atrial heart septal defect caused by mutation in MYH6|ASD3|MYH6 atrial heart septal defect|atrial septal defect type 3|atrial septal defect 3|atrial septal defect 3; ASD3	http://purl.obolibrary.org/obo/MONDO_0013567	Any atrial heart septal defect in which the cause of the disease is a mutation in the MYH6 gene.	http://identifiers.org/omim/614089|DOID:0110108|UMLS:C3279790|MESH:C563540
MONDO:0013568	sick sinus syndrome 3, susceptibility to	biolink:Disease	mondo	OMIM:614090	predisposition	SSS3|sick sinus syndrome 3, susceptibility to; SSS3|susceptibility to sick sinus syndrome 3|familial sick sinus syndrome caused by mutation in MYH6|sick sinus syndrome 3, susceptibility to|MYH6 familial sick sinus syndrome	http://purl.obolibrary.org/obo/MONDO_0013568	Any familial sick sinus syndrome in which the cause of the disease is a mutation in the MYH6 gene.	http://identifiers.org/omim/614090
NCBITaxon:555864	unclassified Bornaviridae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_555864		
HGNC:14540	WNK1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14540		
MONDO:0013561	chondrodysplasia with joint dislocations, gPAPP type	biolink:Disease	mondo	Orphanet:280586|UMLS:C3279757|GARD:0011009|OMIM:614078	ordo_malformation_syndrome	gPAPP deficiency|chondrodysplasia with joint dislocations, gPAPP type	http://purl.obolibrary.org/obo/MONDO_0013561		UMLS:C3279757|ORPHA:280586|http://identifiers.org/omim/614078
CL:0000071	blood vessel endothelial cell	biolink:Cell	mondo			cuboidal endothelial cell of vascular tree	http://purl.obolibrary.org/obo/CL_0000071	An endothelial cell that lines the vasculature.	
MONDO:0013562	aspergillosis, susceptibility to	biolink:Disease	mondo	OMIM:614079	predisposition	susceptibility to aspergillosis|aspergillosis, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0013562		http://identifiers.org/omim/614079
MONDO:0013560	Hermansky-Pudlak syndrome 8	biolink:Disease	mondo	Orphanet:231537|OMIM:614077|DOID:0060546|UMLS:CN201510|ICD10:E70.3|UMLS:C3888026	ordo_clinical_subtype	Hermansky-Pudlak syndrome caused by mutation in BLOC1S3|Hermansky-Pudlak syndrome type 8|Hermansky-Pudlak syndrome 8; HPS8|Hermansky-Pudlak syndrome 8|BLOC1S3 Hermansky-Pudlak syndrome|HPS8	http://purl.obolibrary.org/obo/MONDO_0013560	Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene.	UMLS:C3888026|ORPHA:231537|UMLS:CN201510|DOID:0060546|http://identifiers.org/omim/614077
HGNC:14508	MRPS22	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14508		
CL:0000047	neuronal stem cell	biolink:Cell	mondo	CALOHA:TS-2360|FMA:86684|BTO:0002881		NSC|neural stem cell	http://purl.obolibrary.org/obo/CL_0000047	Neural stem cell is characterized as an undifferentiated cell that originates from the neuroectoderm and has the capacity both to perpetually self-renew without differentiating and to generate multiple types of lineage-restricted progenitors.	
CL:0000048	multi fate stem cell	biolink:Cell	mondo	FMA:84789		multifate stem cell|multi-fate stem cell|multipotent stem cell|multipotent cell	http://purl.obolibrary.org/obo/CL_0000048	A stem cell that can give rise to multiple lineages of cells.	
CL:0000049	common myeloid progenitor	biolink:Cell	mondo	BTO:0004730		myeloid stem cell|colony forming unit granulocyte, erythrocyte, macrophage, and megakaryocyte|common myeloid precursor|CMP|CFU-GEMM|pluripotent stem cell (bone marrow)|CFU-S|multipotential myeloid stem cell	http://purl.obolibrary.org/obo/CL_0000049	A progenitor cell committed to myeloid lineage, including the megakaryocyte and erythroid lineages.	
CL:0000040	monoblast	biolink:Cell	mondo	CALOHA:TS-1195|FMA:83553		CFU-M|colony forming unit macrophage|colony forming unit monocyte|monocyte stem cell	http://purl.obolibrary.org/obo/CL_0000040	A myeloid progenitor cell committed to the monocyte lineage. This cell is CD11b-positive, has basophilic cytoplasm, euchromatin, and the presence of a nucleolus.	
HGNC:26504	AGBL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26504		
UBERON:4000170	median fin skeleton	biolink:AnatomicalEntity	mondo			axial fin skeleton|unpaired fin skeleton	http://purl.obolibrary.org/obo/UBERON_4000170	Postcranial axial skeleton that is unpaired and located on the sagittal plane of the organism.	
CL:0000055	non-terminally differentiated cell	biolink:Cell	mondo	BTO:0000125|FMA:84782		blast cell	http://purl.obolibrary.org/obo/CL_0000055	A precursor cell with a limited number of potential fates.	
CL:0000056	myoblast	biolink:Cell	mondo	FMA:70335|VHOG:0001529|BTO:0000222|FBbt:00005083|CALOHA:TS-0650			http://purl.obolibrary.org/obo/CL_0000056	A cell that is commited to differentiating into a muscle cell.  Embryonic myoblasts develop from the mesoderm. They undergo proliferation, migrate to their various sites, and then differentiate into the appropriate form of myocytes.  Myoblasts also occur as transient populations of cells in muscles undergoing repair.	
CL:0000057	fibroblast	biolink:Cell	mondo	VHOG:0001482|CALOHA:TS-0362|FMA:63877|BTO:0000452			http://purl.obolibrary.org/obo/CL_0000057	A connective tissue cell which secretes an extracellular matrix rich in collagen and other macromolecules. Flattened and irregular in outline with branching processes; appear fusiform or spindle-shaped.	
CL:0000058	chondroblast	biolink:Cell	mondo	BTO:0003607|FMA:66783		chrondoplast	http://purl.obolibrary.org/obo/CL_0000058	Skeletogenic cell that is typically non-terminally differentiated, secretes an avascular, GAG rich matrix; is not buried in cartilage tissue matrix, retains the ability to divide, located adjacent to cartilage tissue (including within the perichondrium), and develops from prechondroblast (and thus prechondrogenic) cell.	
CL:0000059	ameloblast	biolink:Cell	mondo	FMA:70576|BTO:0001663		enamel secreting cell|amelocyte	http://purl.obolibrary.org/obo/CL_0000059	Skeletogenic cell that produces enamel, overlies the odontogenic papilla, and arises from the differentiation of a preameloblast cell.	
UBERON:4000167	caudal fin skeleton	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_4000167	Median fin skeleton supporting the caudal fin.	
CL:0000050	megakaryocyte-erythroid progenitor cell	biolink:Cell	mondo			colony forming unit erythroid megakaryocyte|MEP|megakaryocyte/erythrocyte progenitor|CFU-EM|megakaryocyte/erythroid progenitor cell|CFU-MegE|Meg/E progenitor	http://purl.obolibrary.org/obo/CL_0000050	A progenitor cell committed to the megakaryocyte and erythroid lineages.	
CL:0000051	common lymphoid progenitor	biolink:Cell	mondo			common lymphocyte precursor|lymphoid stem cell|CLP|ELP|early lymphocyte progenitor|lymphopoietic stem cell|common lymphoid precursor|common lymphocyte progenitor|committed lymphopoietic stem cell	http://purl.obolibrary.org/obo/CL_0000051	A oligopotent progenitor cell committed to the lymphoid lineage.	
MONDO:0025598	pneumonia caused by chlamydia	biolink:Disease	mondo	ICD9:483.1|MESH:D061387|ICD10:J16.0|UMLS:C0339959|DOID:0040083|SCTID:233609002		Chlamydia pneumonia|chlamydial pneumonia|chlamydia pneumonia|Chlamydia caused pneumonia	http://purl.obolibrary.org/obo/MONDO_0025598	An pneumonia caused by infection with Chlamydia.	SNOMEDCT:233609002|UMLS:C0339959|MESH:D061387|DOID:0040083
UBERON:4000164	caudal fin	biolink:AnatomicalEntity	mondo			nageoire caudale|tail|uroptérygie|tail fin|uroptère	http://purl.obolibrary.org/obo/UBERON_4000164	The caudal fin is the most posterior median fin. It is composed of a complex of modified centra and modified neural and hemal arches and spines. 	
FOODON:03430113	food physical quality	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03430113	The physical state of the food product (liquid, semiliquid, semisolid, or solid). Solid food products are further subdivided by shape or form. Terms are provided for products that have both liquid and solid components or that incorporate air or other gases. [FDA CFSAN 1995]	
UBERON:4000162	median fin	biolink:AnatomicalEntity	mondo			périssoptérygie|nageoire impaire	http://purl.obolibrary.org/obo/UBERON_4000162	Fin that is an unpaired fin located in the sagittal plane of the organism.	
CL:0000029	neuron neural crest derived	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000029		
CL:0000020	spermatogonium	biolink:Cell	mondo	BTO:0000958|FMA:72291|CALOHA:TS-2193|FBbt:00004935|EMAPA:31482			http://purl.obolibrary.org/obo/CL_0000020	An euploid male germ cell of an early stage of spermatogenesis.	
CL:0000027	smooth muscle cell neural crest derived	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000027	A smooth muscle cell derived from the neural crest.	
CL:0000039	germ line cell	biolink:Cell	mondo		_upper_level		http://purl.obolibrary.org/obo/CL_0000039	A cell that is within the developmental lineage of gametes and is able to pass along its genetic material to offspring.	
CL:0000031	neuroblast (sensu Vertebrata)	biolink:Cell	mondo	FMA:70563|BTO:0000930		neuroblast	http://purl.obolibrary.org/obo/CL_0000031	A cell that will develop into a neuron often after a migration phase.	
CL:0000034	stem cell	biolink:Cell	mondo	CALOHA:TS-2086|FMA:63368			http://purl.obolibrary.org/obo/CL_0000034	A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells.	
CL:0000035	single fate stem cell	biolink:Cell	mondo	FMA:70569		unipotent stem cell|unipotential stem cell	http://purl.obolibrary.org/obo/CL_0000035	A stem cell that self-renews as well as give rise to a single mature cell type.	
CL:0000036	epithelial fate stem cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000036		
NCBITaxon:372083	Diphyllobothrium cordatum	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_372083		
CL:0000037	hematopoietic stem cell	biolink:Cell	mondo	VHOG:0001485|FMA:70337|BTO:0000725|CALOHA:TS-0448|FMA:86475		blood forming stem cell|colony forming unit hematopoietic|hemopoietic stem cell|HSC	http://purl.obolibrary.org/obo/CL_0000037	A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4, CD5 ,CD8 alpha chain, CD11b, CD14, CD19, CD20, CD56, ly6G, ter119.	
CL:0000038	erythroid progenitor cell	biolink:Cell	mondo	BTO:0004911		blast forming unit erythroid|colony forming unit erythroid|erythroid stem cell|burst forming unit erythroid|CFU-E|BFU-E	http://purl.obolibrary.org/obo/CL_0000038	A progenitor cell committed to the erythroid lineage.	
CL:0000030	glioblast	biolink:Cell	mondo	FBbt:00005145			http://purl.obolibrary.org/obo/CL_0000030		
MONDO:0001400	schwannoma of ureter	biolink:Disease	mondo	DOID:11888|NCIT:C6162|UMLS:C1336877		ureter neurilemmoma|ureteral schwannoma|ureter schwannoma|neurilemmoma of ureter|neurilemmoma of the ureter|schwannoma of the ureter|ureteral neurilemmoma	http://purl.obolibrary.org/obo/MONDO_0001400	A benign nerve sheath tumor composed of Schwann cells, occurring in the ureter.	NCIT:C6162|DOID:11888|UMLS:C1336877
CHEBI:27638	cobalt atom	biolink:ChemicalSubstance	mondo			cobalt|Cobalt|27Co|cobalto|Co|cobaltum|Kobalt|cobalt	http://purl.obolibrary.org/obo/CHEBI_27638	A cobalt group element atom that has atomic number 27.	
MONDO:0001404	ecthyma	biolink:Disease	mondo	ICD9:686.8|MESH:D004473|DOID:11907|EFO:1000689|UMLS:C0013568|SCTID:85791004			http://purl.obolibrary.org/obo/MONDO_0001404	An ulcerative pyoderma usually caused by group A beta-hemolytic streptococcal infection at the site of minor trauma. (Dorland, 27th ed)	UMLS:C0013568|MESH:D004473|DOID:11907|SNOMEDCT:85791004
HP:0012862	Abnormal germ cell morphology	biolink:PhenotypicFeature	mondo	UMLS:C4022704		Abnormally shaped reproductive cell|Abnormally shaped germ cell|Abnormal shape of a reproductive cell	http://purl.obolibrary.org/obo/HP_0012862	Any structural anomaly of a reproductive cell.	
HP:0012863	Abnormal male germ cell morphology	biolink:PhenotypicFeature	mondo	UMLS:C4022703			http://purl.obolibrary.org/obo/HP_0012863	A structural anomaly of a male reproductive cell.	
MONDO:0001403	labium majus cancer	biolink:Disease	mondo	NCIT:C7638|UMLS:C0496814|COHD:4178970|ICD10:C51.0|SCTID:363446004|DOID:11905|ICD9:184.1		labium majora cancer|malignant tumor of the labia majora|malignant labium majora neoplasm|malignant neoplasm of labium majora|malignant labia majora neoplasm|malignant neoplasm of the labia majora|malignant labia majora tumor|malignant neoplasm of labia majora|cancer of labium majora|malignant tumor of labia majora	http://purl.obolibrary.org/obo/MONDO_0001403	A malignant neoplasm involving the labium majora.	NCIT:C7638|SNOMEDCT:363446004|DOID:11905|UMLS:C0496814
HP:0012864	Abnormal sperm morphology	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:236817003|UMLS:C0403824|MSH:D000072660		Teratospermia|Teratozoospermia|Abnormal shape of sperm	http://purl.obolibrary.org/obo/HP_0012864	A structural anomaly of sperm.	
MONDO:0001402	vaginal cancer	biolink:Disease	mondo	DOID:119|SCTID:363445000|MESH:D014625|ICD10:C52|GARD:0009348|ICD9:184.0|NCIT:C7410	gard_rare	malignant vagina tumor|malignant neoplasm of the vagina|malignant neoplasm of vagina|malignant vaginal neoplasm|vagina neoplasm|malignant vaginal tumor|malignant vagina neoplasm|neoplasm of vagina|malignant tumor of vagina|vagina cancer|malignant tumor of the vagina|cancer of vagina|vaginal tumor	http://purl.obolibrary.org/obo/MONDO_0001402	A primary or metastatic malignant neoplasm involving the vagina. Representative examples include carcinomas and sarcomas.	NCIT:C7410|SNOMEDCT:363445000|MESH:D014625|DOID:119
UBERON:0009030	left pulmonary vein	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009030	Vein that drains left lung and returns blood to the heart.	
MONDO:0001401	female breast nipple and areola cancer	biolink:Disease	mondo	DOID:11889|UMLS:C0024621|SCTID:188147009|ICD9:174.0		malignant neoplasm of nipple or areola of female breast|malignant neoplasm of nipple and areola of female breast	http://purl.obolibrary.org/obo/MONDO_0001401		UMLS:C0024621|DOID:11889|SNOMEDCT:188147009
HP:0012865	Sperm head anomaly	biolink:PhenotypicFeature	mondo	UMLS:C4022702			http://purl.obolibrary.org/obo/HP_0012865	A structural abnormality of the sperm head.	
UBERON:0010020	tubotympanic recess epithelium	biolink:AnatomicalEntity	mondo			tubotympanic recess	http://purl.obolibrary.org/obo/UBERON_0010020	The dorsal portion of the embryonic first endodermal pharyngeal pouch; it develops into the middle ear cavity.	
UBERON:0036654	wall of lateral ventricle	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0036654		
UBERON:0036657	wall of fourth ventricle	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0036657		
UBERON:0010023	dorsal part of pharyngeal pouch 2	biolink:AnatomicalEntity	mondo			dorsal elongation of second pouch endoderm|dorsal branchial pouch 2 endoderm|dorsal pharyngeal pouch 2 endoderm|dorsal pharyngeal pouch 2|dorsal 2nd branchial pouch	http://purl.obolibrary.org/obo/UBERON_0010023		
UBERON:0036656	wall of third ventricle	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0036656		
HGNC:7566	MYF6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7566		
HGNC:7569	MYH11	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7569		
HP:0000870	Increased circulating prolactin concentration	biolink:PhenotypicFeature	mondo	UMLS:C0020514|MSH:D006966|SNOMEDCT_US:237662005		Prolactin excess|Hyperprolactinemia|Hyperprolactinaemia	http://purl.obolibrary.org/obo/HP_0000870	The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy.	
UBERON:0009032	right pulmonary vein	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009032	Vein that drains right lung and returns blood to the heart.	
UBERON:0009035	renal straight tubule	biolink:AnatomicalEntity	mondo			kidney straight tubule|straight tubule	http://purl.obolibrary.org/obo/UBERON_0009035	Any region of a nephron tubule that is straight. Examples: distal convoluted tubule, proximal convoluted tuble.	
HGNC:7562	MYD88	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7562		
MONDO:0001411	synostosis	biolink:Disease	mondo	MESH:D013580|DOID:11971			http://purl.obolibrary.org/obo/MONDO_0001411	A disease characterized by abnormal union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue.	DOID:11971|MESH:D013580
MONDO:0001410	postmenopausal atrophic vaginitis	biolink:Disease	mondo	ICD10:N95.2|UMLS:C0221392|COHD:201078|EFO:1001271|SCTID:52441000|ICD9:627.3|UMLS:C0156409|DOID:11968|MESH:D059268		senile vaginitis|atrophic vaginitis	http://purl.obolibrary.org/obo/MONDO_0001410	Inflammation of the vagina due to thinning of the vaginal wall and decreased lubrication associated with reduced estrogen levels at menopause.	SNOMEDCT:52441000|UMLS:C0156409|UMLS:C0221392|MESH:D059268|DOID:11968
NCBITaxon:11079	Murray Valley encephalitis virus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_11079		
MONDO:0001415	atrophy of testis	biolink:Disease	mondo	ICD9:608.3|DOID:11994|NCIT:C123259|COHD:438477|ICD10:N50.0|UMLS:C0156312|SCTID:17585008		testicular atrophy	http://purl.obolibrary.org/obo/MONDO_0001415	Loss of testicular volume.	UMLS:C0156312|DOID:11994|SNOMEDCT:17585008|NCIT:C123259
MONDO:0001414	osteopoikilosis (disease)	biolink:Disease	mondo	GARD:0004158|SCTID:9147009|ICD9:756.53|NCIT:C84985|DOID:11991|HP:0010739|MESH:D010023|ICD10:Q78.8	gard_rare	osteopathia condensans disseminata|spotted bones|osteopoikilosis	http://purl.obolibrary.org/obo/MONDO_0001414	A rare autosomal dominant inherited disorder characterized by the presence of small areas of increased density throughout the bones.	MESH:D010023|SNOMEDCT:9147009|DOID:11991|NCIT:C84985
MONDO:0001413	ulceroglandular tularemia	biolink:Disease	mondo	SCTID:37722001|ICD10:A21.0|DOID:11990|UMLS:C0152941|ICD9:021.0			http://purl.obolibrary.org/obo/MONDO_0001413	A tularemia that results in painful regional lymphadenopathy and an ulcerated skin lesion.	SNOMEDCT:37722001|DOID:11990|UMLS:C0152941
MONDO:0001412	conjunctival concretion	biolink:Disease	mondo	COHD:381020|ICD9:372.54|ICD10:H11.12|SCTID:13706005|DOID:11988			http://purl.obolibrary.org/obo/MONDO_0001412		SNOMEDCT:13706005|DOID:11988
UBERON:0009020	left uterine horn	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009020	An uterine horn that is in the left side of a uterus.	
UBERON:0010011	collection of basal ganglia	biolink:AnatomicalEntity	mondo			subcortical nuclei|set of basal nuclei|basal nuclei (basal ganglia)|set of basal ganglia|basal ganglia set|basal nuclei|basal ganglia|cerebral nuclei	http://purl.obolibrary.org/obo/UBERON_0010011	Subcortical masses of gray matter in the forebrain and midbrain that are richly interconnected and so viewed as a functional system. The nuclei usually included are the caudate nucleus (caudoputamen in rodents), putamen, globus pallidus, substantia nigra (pars compacta and pars reticulata) and the subthalamic nucleus. Some also include the nucleus accumbens and ventral pallidum.	
UBERON:0036661	wall of ventricular system of brain	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0036661		
HGNC:7578	MYH8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7578		
UBERON:0036658	wall of central canal of spinal cord	biolink:AnatomicalEntity	mondo			wall of central canal	http://purl.obolibrary.org/obo/UBERON_0036658		
HGNC:7577	MYH7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7577		
HGNC:14604	AMN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14604		
HGNC:7579	MYH9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7579		
UBERON:0010009	aggregate regional part of brain	biolink:AnatomicalEntity	mondo			set of nuclei of neuraxis	http://purl.obolibrary.org/obo/UBERON_0010009	A regional part of brain consisting of multiple brain regions that are not related through a simple volummetric part of hierarchy, e.g., basal ganglia[NIF].	
MONDO:0001408	ischemic neuropathy	biolink:Disease	mondo	NCIT:C27025|ICD9:356.9|DOID:1195|SCTID:129611009|UMLS:C0238309		ischemic peripheral neuropathy	http://purl.obolibrary.org/obo/MONDO_0001408	Neuropathy that is caused by inadequate blood supply.	SNOMEDCT:129611009|NCIT:C27025|DOID:1195|UMLS:C0238309
MONDO:0001407	tracheal cancer	biolink:Disease	mondo	SCTID:363432004|NCIT:C9346|ICD10:C33|COHD:4177112|DOID:11920|ICD9:162.0|UMLS:C0153489		tracheal neoplasm|malignant tracheal tumor|malignant neoplasm of the trachea|Ca trachea|trachea cancer|malignant trachea tumor|malignant neoplasm of trachea|malignant tracheal neoplasm|malignant tumor of the trachea|malignant tumor of trachea|malignant trachea neoplasm|cancer of trachea	http://purl.obolibrary.org/obo/MONDO_0001407	A malignant neoplasm involving the trachea	NCIT:C9346|SNOMEDCT:363432004|DOID:11920|UMLS:C0153489
UBERON:0009022	right uterine horn	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009022	An uterine horn that is in the right side of a uterus.	
NCBITaxon:11071	Japanese encephalitis virus group	organism taxon	mondo	GC_ID:1		Japanese encephalitis viruses	http://purl.obolibrary.org/obo/NCBITaxon_11071		
NCBITaxon:11072	Japanese encephalitis virus	organism taxon	mondo	GC_ID:1		Japanese encephalitis (JE) virus|Japanese encephalitis virus JE|Japanese encephalitis virus JEV	http://purl.obolibrary.org/obo/NCBITaxon_11072		
MONDO:0001406	peripheral nervous system neoplasm	biolink:Disease	mondo	SCTID:126980002|ONCOTREE:PNS|NCIT:C3321|UMLS:C0031118|ICD9:239.2|DOID:1192|MESH:D010524		neoplasm of peripheral nerve|peripheral nervous system neoplasm|neoplasm of the PNS|neoplasms, PNS|CNS-excluded nervous sys. cancer|neoplasm of the peripheral nerve|neoplasm of PNS|peripheral nervous system neoplasm (disease)|peripheral nerve tumor|PNS tumor|CNS-excluded nervous system cancer, NOS|tumor of PNS|tumor of peripheral nervous system|nerve sheath neoplasm|PNS neoplasm|neoplasm of the peripheral nervous system|PNS neoplasms|neoplasms, peripheral nervous system|peripheral nerve neoplasm|tumor of the PNS|tumor of peripheral nerve|tumor of the peripheral nerve|tumor of the peripheral nervous system|neoplasm of peripheral nervous system|peripheral nervous system tumor|nerve sheath tumors	http://purl.obolibrary.org/obo/MONDO_0001406	A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths.	SNOMEDCT:126980002|MESH:D010524|DOID:1192|NCIT:C3321|UMLS:C0031118
HGNC:7572	MYH2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7572		
MONDO:0001405	dermatophytosis of groin and perianal area	biolink:Disease	mondo	NCIT:C34535|ICD9:110.3|SCTID:399029005|UMLS:C0011638|DOID:11917		dermatophytosis of groin and perianal area|dermatophytosis of groin & perianal area|tinea cruris|Dhobie itch	http://purl.obolibrary.org/obo/MONDO_0001405	Dermatophytosis involving the stratum corneum of the skin of the groin and perianal area.	SNOMEDCT:399029005|NCIT:C34535|UMLS:C0011638|DOID:11917
HGNC:7573	MYH3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7573		
HGNC:7576	MYH6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7576		
UBERON:0009027	vesical artery	biolink:AnatomicalEntity	mondo			vesical arteries|arteria vesicali	http://purl.obolibrary.org/obo/UBERON_0009027	An artery that supplies blood to the urinary bladder.	
MONDO:0001409	esophagitis (disease)	biolink:Disease	mondo	ICD10:K20.9|NCIT:C9224|UMLS:C0149882|SCTID:16761005|DOID:11963|ICD9:530.1|UMLS:C0014868|ICD10:K20|ICD9:530.12|ICD9:530.10|MESH:D004941|HP:0100633		esophagus inflammation|esophagitis|acute esophagitis|inflammation of esophagus	http://purl.obolibrary.org/obo/MONDO_0001409	An acute or chronic inflammatory disease affecting the esophageal wall.	NCIT:C9224|UMLS:C0014868|SNOMEDCT:16761005|DOID:11963|UMLS:C0149882|MESH:D004941
NCBITaxon:11077	Kunjin virus	organism taxon	mondo	GC_ID:1		West Nile virus - Kunjin	http://purl.obolibrary.org/obo/NCBITaxon_11077		
HP:0000855	Insulin resistance	biolink:PhenotypicFeature	mondo	MSH:D007333|SNOMEDCT_US:48606007|UMLS:C0021655		Body fails to respond to insulin	http://purl.obolibrary.org/obo/HP_0000855	Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.	
UBERON:0010000	multicellular anatomical structure	biolink:AnatomicalEntity	mondo			multicellular structure	http://purl.obolibrary.org/obo/UBERON_0010000	An anatomical structure that has more than one cell as a part.	
HP:0000859	Hyperaldosteronism	biolink:PhenotypicFeature	mondo	MSH:D006929|SNOMEDCT_US:88213004|UMLS:C0020428		Increased aldosterone|Mineralocorticoid excess|Elevated plasma aldosterone|Increased aldosterone production	http://purl.obolibrary.org/obo/HP_0000859	Overproduction of the mineralocorticoid aldosterone by the adrenal cortex.	
HP:0000858	Irregular menstruation	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:80182007|UMLS:C0156404		Irregular menses|Menstrual irregularities|Menstrual irregularity	http://purl.obolibrary.org/obo/HP_0000858	Abnormally high variation in the amount of time between periods.	
UBERON:0010001	cell cluster organ	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010001	A small cluster of cells of various types which form a discrete structure, largely delimited by a morphological boundary and whose components work together to make the whole structure capable of a specific function.	
HP:0000853	Goiter	biolink:PhenotypicFeature	mondo	MSH:D006042|SNOMEDCT_US:3716002|UMLS:C0018021		Goitre|Enlarged thyroid gland in neck|Thyroid goiter	http://purl.obolibrary.org/obo/HP_0000853	An enlargement of the thyroid gland.	
UBERON:0009010	periurethral tissue	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009010	Any portion of tissue that surrounds a urethra.	
HGNC:7583	MYL2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7583		
NCBITaxon:11040	Rubivirus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_11040		
HGNC:7582	MYL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7582		
UBERON:0009014	lower back skin	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009014	A zone of skin that is part of a lower back.	
NCBITaxon:11041	Rubella virus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_11041		
HGNC:7585	MYL4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7585		
UBERON:0009015	upper back skin	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009015	A zone of skin that is part of a dorsal thoracic segment of trunk.	
HGNC:7584	MYL3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7584		
HGNC:7590	MYLK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7590		
UBERON:0012651	mucosa of gastroduodenal junction	biolink:AnatomicalEntity	mondo			gastroduodenal mucosa	http://purl.obolibrary.org/obo/UBERON_0012651	A mucosa that is part of a gastroduodenal junction.	
UBERON:0012650	gastroduodenal junction	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0012650	A anatomical junction that connects a stomach and connects a duodenum.	
UBERON:0012652	colorectum	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0012652	The subdivision of the digestive tract that consists of the colon and the rectum.	
HGNC:7599	MYO1E	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7599		
HP:0000864	Abnormality of the hypothalamus-pituitary axis	biolink:PhenotypicFeature	mondo	UMLS:C4025819			http://purl.obolibrary.org/obo/HP_0000864	Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit.	
HGNC:7594	MYO15A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7594		
NCBITaxon:11050	Flaviviridae	organism taxon	mondo	GC_ID:1		Flavivirus (arbovirus group B)	http://purl.obolibrary.org/obo/NCBITaxon_11050		
NCBITaxon:11051	Flavivirus	organism taxon	mondo	GC_ID:1		arboviruses group B	http://purl.obolibrary.org/obo/NCBITaxon_11051		
NCBITaxon:11052	Dengue virus group	organism taxon	mondo	GC_ID:1		Dengue viruses	http://purl.obolibrary.org/obo/NCBITaxon_11052		
NCBITaxon:11053	Dengue virus 1	organism taxon	mondo	GC_ID:1		dengue type 1 D1 virus|Dengue virus type 1|dengue virus type 1 DEN1|type 1 dengue virus DEN-1|dengue virus-1 DEN-1|dengue virus type I	http://purl.obolibrary.org/obo/NCBITaxon_11053		
HGNC:7595	MYO1A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7595		
MONDO:0001444	Chagas disease	biolink:Disease	mondo	ICD10:B57.5|UMLS:C0153125|ICD10:B57.4|ICD10:B57.3|ICD10:B57.2|ICD10:B57.1|ICD10:B57.0|NCIT:C84629|UMLS:C0041234|DOID:12140|MESH:D014355|ICD9:086.2|EFO:0008559|SCTID:77506005|ICD10:B57|UMLS:C0348782|MedDRA:10001935|KEGG:05142|Orphanet:3386|UMLS:C0348781	ordo_disease	Chagas disease|infection by trypanosoma cruzi|American trypanosomiasis|Chagas' disease with other organ involvement|Chagas-mazza disease|Trypanosoma cruzi infectious disease|Chagas' disease with nervous system involvement|Trypanosoma cruzi caused disease or disorder|Chagas' disease|Chagas' disease with digestive system involvement|south American trypanosomiasis|infection caused by trypanosoma cruzi|Trypanosoma cruzi disease or disorder	http://purl.obolibrary.org/obo/MONDO_0001444	A parasitic infection caused by Trypanosoma cruzi. It is transmitted by insect bites. It is characterized by an acute and chronic phase; in the acute phase patients may have fever, malaise, and swelling at the site of the insect bite. In the chronic phase patients develop hepatosplenomegaly, lymphadenopathy, cardiomyopathy and arrhythmias.	UMLS:C0348781|UMLS:C0348782|UMLS:C0153125|NCIT:C84629|ORPHA:3386|SNOMEDCT:77506005|MEDDRA:10001935|MESH:D014355|UMLS:C0041234|DOID:12140
MONDO:0001443	tympanosclerosis	biolink:Disease	mondo	ICD9:385.00|DOID:1214|MESH:D063371|ICD10:H74.0|COHD:378765|ICD9:385.09|SCTID:23606001			http://purl.obolibrary.org/obo/MONDO_0001443	The formation of dense connective tissue in the tympanic membrane that does not necessarily cause or lead to loss of hearing.	MESH:D063371|DOID:1214|SNOMEDCT:23606001
MONDO:0001442	dysthymic disorder	biolink:Disease	mondo	COHD:433440|SCTID:78667006|ICD10:F34.1|NCIT:C34562|ICD9:300.4|EFO:0008623|DOID:12139|MESH:D019263		dysthymia	http://purl.obolibrary.org/obo/MONDO_0001442	A chronic mood disorder in which the symptoms are similar to, though milder than, those diagnosed in depression.	SNOMEDCT:78667006|NCIT:C34562|MESH:D019263|DOID:12139
MONDO:0025412	feline panleukopenia	biolink:Disease	mondo	UMLS:C0015765|MESH:D005254		fevers, show|Feline agranulocytosis|plague, Cat|Feline ataxia|infectious enteritis, Feline|Panleukopenias, Feline|Cat plague|infectious Enteritides, Feline|distempers, Feline|ataxia, Feline|ataxias, Feline|agranulocytoses, Feline|Cat Plagues|enteritides, Feline infectious|distemper, Feline|fever, show|enteritis, Feline infectious|Panleukopenia, Feline|Feline Ataxias|Feline Agranulocytoses|agranulocytosis, Feline|Feline infectious enteritis|Feline infectious Enteritides|show fevers|Feline distemper|Feline Panleukopenias|plagues, Cat|Feline Distempers|show fever	http://purl.obolibrary.org/obo/MONDO_0025412	A highly contagious dna virus infection of the cat family, characterized by fever, enteritis and bone marrow changes. It is also called feline ataxia, feline agranulocytosis, feline infectious enteritis, cat fever, cat plague, and show fever. It is caused by feline panleukopenia virus or the closely related mink enteritis virus or canine parvovirus.	UMLS:C0015765|MESH:D005254
MONDO:0001441	pica disease	biolink:Disease	mondo	NCIT:C92566|SCTID:14077003|ICD9:307.52|DOID:12128|MESH:D010842		Pica|Pica eating disorder	http://purl.obolibrary.org/obo/MONDO_0001441	An eating disorder characterized by the persistent eating of nonnutritive substances such as clay or soil; this behavior must be inappropriate to the level of the individual's development.	SNOMEDCT:14077003|NCIT:C92566|DOID:12128|MESH:D010842
UBERON:0010061	lumen of nasopharynx	biolink:AnatomicalEntity	mondo			nasopharynx cavity|nasopharynx lumen|nasopharyngeal luman	http://purl.obolibrary.org/obo/UBERON_0010061		
MONDO:0001448	obsolete alveolar echinococcosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001448		
MONDO:0001447	detrusor sphincter dyssynergia (disease)	biolink:Disease	mondo	HP:0025488|UMLS:C0341747|DOID:12145|SCTID:236655005|ICD9:596.55		detrusor sphincter dyssynergia	http://purl.obolibrary.org/obo/MONDO_0001447		UMLS:C0341747|DOID:12145|SNOMEDCT:236655005
UBERON:0010062	pharyngotympanic tube epithelium	biolink:AnatomicalEntity	mondo			auditory tube epithelium|eustachian tube epithelium	http://purl.obolibrary.org/obo/UBERON_0010062		
MONDO:0025417	fowlpox	biolink:Disease	mondo	MESH:D005586		Bird pox|epithelioma contagiosum|Birdpox|Diphtherias, fowl|Variola avium|fowl Diphtherias|pox, fowl|fowl diphtheria|diphtheria, fowl|fowl pox|pox, Bird	http://purl.obolibrary.org/obo/MONDO_0025417	A poxvirus infection of poultry and other birds characterized by the formation of wart-like nodules on the skin and diphtheritic necrotic masses (cankers) in the upper digestive and respiratory tracts.	MESH:D005586
MONDO:0001446	low compliance bladder	biolink:Disease	mondo	COHD:76153|DOID:12144|UMLS:C0489967|ICD9:596.52|SCTID:9009001		hyperactivity of bladder|low bladder compliance|hypertonicity of bladder|hypertonic bladder	http://purl.obolibrary.org/obo/MONDO_0001446		SNOMEDCT:9009001|UMLS:C0489967|DOID:12144
MONDO:0001445	obsolete neurogenic bladder (disease)	biolink:Disease	mondo	HP:0000011|DOID:12143|SCTID:398064005|MESH:D001750|UMLS:C0005697|ICD9:596.54		neurogenic urinary bladder disorder|neuropathic bladder|neurogenic dysfunction of the urinary bladder|neurogenic bladder	http://purl.obolibrary.org/obo/MONDO_0001445	Malfunctioning urinary bladder due to central nervous system disorders or damage to the peripheral nerves that are involved in the control of urination. Causes include spinal cord injuries, neural tube defects, brain tumors, strokes, and peripheral neuropathies (e.g., AIDS neuropathy and diabetic neuropathy).	UMLS:C0005697|NCIT:C79696|SNOMEDCT:398064005|MESH:D001750|DOID:12143
UBERON:0010060	pharyngeal opening of pharyngotympanic tube	biolink:AnatomicalEntity	mondo			pharyngeal opening of auditory tube|pharyngeal ostium of eustachian tube|ostium pharyngeum tubae auditivae|pharyngeal tubal ostium|pharyngeal orifice of auditory tube|pharyngeal ostium of pharyngotympanic tube|pharyngeal opening of eustachian tube|pharyngeal orifice of eustachian tube|ostium pharyngeum tubae auditoriae|pharyngeal ostium of auditory tube|pharyngeal ostium|pharyngeal orifice of pharyngotympanic tube|ostium pharyngeum tubae auditivae	http://purl.obolibrary.org/obo/UBERON_0010060	On the lateral wall of the nasal part of the pharynx is the pharyngeal opening of auditory tube (pharyngeal ostium), somewhat triangular in shape, and bounded behind by a firm prominence, the torus or cushion, caused by the medial end of the cartilage of the tube which elevates the mucous membrane.	
UBERON:0010065	auditory meatus epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010065		
MONDO:0013428	Meier-Gorlin syndrome 2	biolink:Disease	mondo	UMLS:C3151097|DOID:0080513|OMIM:613800		ORC4 Meier-Gorlin syndrome|MGORS2|Meier-GORLIN syndrome 2; MGORS2|Meier-Gorlin syndrome 2|Meier-Gorlin syndrome caused by mutation in ORC4|Meier-Gorlin syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0013428	Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC4 gene.	http://identifiers.org/omim/613800|UMLS:C3151097|DOID:0080513
UBERON:0010063	tympanic cavity epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010063		
MONDO:0013429	retinitis pigmentosa 40	biolink:Disease	mondo	ICD10:H35.5|DOID:0110375|UMLS:C3151107|OMIM:613801		RP40|retinitis pigmentosa caused by mutation in PDE6B|retinitis pigmentosa 40|retinitis pigmentosa 40; RP40|retinitis pigmentosa type 40|PDE6B retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0013429	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6B gene.	DOID:0110375|http://identifiers.org/omim/613801|UMLS:C3151107
UBERON:0010064	open anatomical space	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010064	An anatomical space with at least one opening to another space or the exterior.	
UBERON:0010069	outer epithelial layer of tympanic membrane	biolink:AnatomicalEntity	mondo			cuticular layer of tympanic membrane|outer layer of tympanic membrane|outer cuticular layer of tympanic membrane|tympanic membrane external acoustic meatus epithelial component|cuticular stratum of tympanic membrane	http://purl.obolibrary.org/obo/UBERON_0010069	A portion of the external acoustic meatus epithelium which makes up the outer (cuticular) layer of the tympanic membrane	
MONDO:0001440	neurotrophic keratoconjunctivitis	biolink:Disease	mondo	ICD9:370.35|ICD10:H16.23|SCTID:77080005|UMLS:C0155084|COHD:381291|DOID:12125			http://purl.obolibrary.org/obo/MONDO_0001440		SNOMEDCT:77080005|DOID:12125|UMLS:C0155084
MONDO:0013433	primary sclerosing cholangitis	biolink:Disease	mondo	MedDRA:10036732|Orphanet:171|ICD10:K83.0|DOID:0060643|SCTID:197441003|OMIM:613806|UMLS:C0566602|GARD:0001280	ordo_disease	PSC|cholangitis, primary sclerosing; PSC|cholangitis, primary sclerosing	http://purl.obolibrary.org/obo/MONDO_0013433	Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.	SNOMEDCT:197441003|http://identifiers.org/omim/613806|ORPHA:171|MEDDRA:10036732|MESH:C536419|UMLS:C0566602|DOID:0060643
MONDO:0013434	primary ciliary dyskinesia 14	biolink:Disease	mondo	OMIM:613807|UMLS:C3151136|ICD10:Q34.8|DOID:0110598		CCDC39 primary ciliary dyskinesia|ciliary dyskinesia, primary, 14; CILD14|ciliary dyskinesia, primary, 14, with or without situs inversus|primary ciliary dyskinesia 14 with or without situs inversus|ciliary dyskinesia, primary, type 14|primary ciliary dyskinesia caused by mutation in CCDC39|CILD14|primary ciliary dyskinesia type 14|ciliary dyskinesia, primary, 14	http://purl.obolibrary.org/obo/MONDO_0013434	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC39 gene.	UMLS:C3151136|http://identifiers.org/omim/613807|DOID:0110598
MONDO:0013431	Meier-Gorlin syndrome 4	biolink:Disease	mondo	DOID:0080515|UMLS:C3151120|OMIM:613804		CDT1 Meier-Gorlin syndrome|Meier-GORLIN syndrome 4; MGORS4|Meier-Gorlin syndrome 4|Meier-Gorlin syndrome type 4|MGORS4|Meier-Gorlin syndrome caused by mutation in CDT1	http://purl.obolibrary.org/obo/MONDO_0013431	Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDT1 gene.	http://identifiers.org/omim/613804|UMLS:C3151120|DOID:0080515
MONDO:0013432	Meier-Gorlin syndrome 5	biolink:Disease	mondo	DOID:0080516|OMIM:613805|UMLS:C3151126		Meier-GORLIN syndrome 5; MGORS5|Meier-Gorlin syndrome caused by mutation in CDC6|Meier-Gorlin syndrome 5|MGORS5|Meier-Gorlin syndrome type 5|CDC6 Meier-Gorlin syndrome	http://purl.obolibrary.org/obo/MONDO_0013432	Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC6 gene.	http://identifiers.org/omim/613805|DOID:0080516|UMLS:C3151126
MONDO:0013437	retinitis pigmentosa 43	biolink:Disease	mondo	UMLS:C3151139|OMIM:613810|ICD10:H35.5|DOID:0110379		retinitis pigmentosa caused by mutation in PDE6A|PDE6A retinitis pigmentosa|retinitis pigmentosa type 43|retinitis pigmentosa 43; RP43|RP43|retinitis pigmentosa 43	http://purl.obolibrary.org/obo/MONDO_0013437	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6A gene.	http://identifiers.org/omim/613810|UMLS:C3151139|DOID:0110379
MONDO:0013438	pontocerebellar hypoplasia type 2D	biolink:Disease	mondo	UMLS:C3151140|DOID:0060270|OMIM:613811|ICD10:Q04.3		pontocerebellar hypoplasia, type 2D; PCH2D|cerebello-cerebral atrophy, progressive|Cerebellocerebral atrophy, progressive|SEPSECS non-syndromic pontocerebellar hypoplasia|PCH2D|pontocerebellar hypoplasia, type 2D|non-syndromic pontocerebellar hypoplasia caused by mutation in SEPSECS	http://purl.obolibrary.org/obo/MONDO_0013438	Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the SEPSECS gene.	UMLS:C3151140|http://identifiers.org/omim/613811|DOID:0060270
MONDO:0013435	primary ciliary dyskinesia 15	biolink:Disease	mondo	UMLS:C3151137|DOID:0110623|OMIM:613808|ICD10:Q34.8		ciliary dyskinesia, primary, 15; CILD15|ciliary dyskinesia, primary, 15, with or without situs inversus|CCDC40 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 15|primary ciliary dyskinesia caused by mutation in CCDC40|CILD15|primary ciliary dyskinesia type 15|primary ciliary dyskinesia 15 with or without situs inversus|ciliary dyskinesia, primary, 15	http://purl.obolibrary.org/obo/MONDO_0013435	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC40 gene.	http://identifiers.org/omim/613808|UMLS:C3151137|DOID:0110623
MONDO:0013436	retinitis pigmentosa 39	biolink:Disease	mondo	ICD10:H35.5|UMLS:C3151138|OMIM:613809|DOID:0110360		USH2A retinitis pigmentosa|retinitis pigmentosa caused by mutation in USH2A|retinitis pigmentosa 39; RP39|retinitis pigmentosa type 39|RP39|retinitis pigmentosa 39	http://purl.obolibrary.org/obo/MONDO_0013436	Any retinitis pigmentosa in which the cause of the disease is a mutation in the USH2A gene.	UMLS:C3151138|http://identifiers.org/omim/613809|DOID:0110360
MONDO:0001439	episcleritis periodica fugax	biolink:Disease	mondo	UMLS:C0155351|ICD9:379.01|COHD:441032|DOID:12124|ICD10:H15.11|SCTID:31166000			http://purl.obolibrary.org/obo/MONDO_0001439		DOID:12124|UMLS:C0155351|SNOMEDCT:31166000
GO:1990837	sequence-specific double-stranded DNA binding	biolink:OntologyClass	mondo			sequence-specific dsDNA binding	http://purl.obolibrary.org/obo/GO_1990837	Interacting selectively and non-covalently with double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding.	
MONDO:0001438	postinflammatory pulmonary fibrosis	biolink:Disease	mondo	ICD10:J84.10|SCTID:266368002|UMLS:C0175999|DOID:12123|ICD9:515|COHD:253797		post-inflammatory pulmonary fibrosis|postinflammatory pulmonary fibrosis	http://purl.obolibrary.org/obo/MONDO_0001438		DOID:12123|SNOMEDCT:266368002|UMLS:C0175999
MONDO:0013430	Meier-Gorlin syndrome 3	biolink:Disease	mondo	DOID:0080514|OMIM:613803|UMLS:C3151113		Meier-Gorlin syndrome caused by mutation in ORC6|Meier-GORLIN syndrome 3; MGORS3|Meier-Gorlin syndrome 3|ORC6 Meier-Gorlin syndrome|Meier-Gorlin syndrome type 3|MGORS3	http://purl.obolibrary.org/obo/MONDO_0013430	Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC6 gene.	http://identifiers.org/omim/613803|DOID:0080514|UMLS:C3151113
MONDO:0001455	retinal lattice degeneration	biolink:Disease	mondo	SCTID:3577000|COHD:319016|UMLS:C0154856|DOID:12165|ICD9:362.63|ICD10:H35.41		palisade degeneration of retina	http://purl.obolibrary.org/obo/MONDO_0001455		UMLS:C0154856|DOID:12165|SNOMEDCT:3577000
MONDO:0001454	Blessig's cysts	biolink:Disease	mondo	DOID:12164|UMLS:C0154855|ICD9:362.62|SCTID:37075008|ICD10:H35.42		Microcystoid retinal degeneration|Iwanoff's cysts|Blessig cysts|Microcystoid degeneration of retina	http://purl.obolibrary.org/obo/MONDO_0001454		UMLS:C0154855|SNOMEDCT:37075008|DOID:12164
MONDO:0001453	senile reticular retinal degeneration	biolink:Disease	mondo	UMLS:C0154857|ICD9:362.64|DOID:12163|SCTID:54184008		Senile reticular degeneration of retina	http://purl.obolibrary.org/obo/MONDO_0001453		UMLS:C0154857|SNOMEDCT:54184008|DOID:12163
MONDO:0001452	pseudoretinitis pigmentosa	biolink:Disease	mondo	UMLS:C0154858|ICD9:362.65|DOID:12162|SCTID:193396007|ICD10:H35.45|UMLS:C2053820		secondary pigmentary degeneration of retina|secondary pigmentary retinal degeneration	http://purl.obolibrary.org/obo/MONDO_0001452		SNOMEDCT:193396007|DOID:12162|UMLS:C2053820|UMLS:C0154858
MONDO:0025404	coronaviral enteritis of turkeys	biolink:Disease	mondo	MESH:D004753|UMLS:C0014342		Bluecomb of turkeys|coronaviral enteritis of turkeys|transmissible enteritis of turkeys|enteritis, transmissible, of turkeys	http://purl.obolibrary.org/obo/MONDO_0025404	An acute, highly contagious virus disease of turkeys characterized by chilling, anorexia, decreased water intake, diarrhea, dehydration and weight loss. The infectious agent is a coronavirus.	MESH:D004753|UMLS:C0014342
MONDO:0001459	radial neuropathy	biolink:Disease	mondo	UMLS:C0748226|MESH:D020425|DOID:12171|SCTID:16644004		radial nerve peripheral neuropathy|peripheral neuropathy of radial nerve	http://purl.obolibrary.org/obo/MONDO_0001459	Disease involving the radial nerve. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the axilla and radial groove of the humerus.	MESH:D020425|SNOMEDCT:16644004|UMLS:C0748226|DOID:12171
MONDO:0001458	ulnar nerve lesion	biolink:Disease	mondo	ICD10:G56.20|DOID:12168|SCTID:367475009|ICD9:354.2|UMLS:C1288279|COHD:374027|ICD10:G56.2		ulnar nerve peripheral nerve lesion|peripheral nerve lesion of ulnar nerve|lesion of ulnar nerve	http://purl.obolibrary.org/obo/MONDO_0001458	A peripheral nerve lesion that involves the ulnar nerve.	SNOMEDCT:367475009|UMLS:C1288279|DOID:12168
MONDO:0001457	secondary vitreoretinal degeneration	biolink:Disease	mondo	SCTID:60676002|DOID:12167|ICD9:362.66|ICD10:H35.46|UMLS:C0154859			http://purl.obolibrary.org/obo/MONDO_0001457		UMLS:C0154859|DOID:12167|SNOMEDCT:60676002
MONDO:0001456	cobblestone retinal degeneration	biolink:Disease	mondo	DOID:12166|UMLS:C0154854|SCTID:69134001|ICD9:362.61|COHD:438748|ICD10:H35.43		paving stone degeneration of retina|paving stone retinal degeneration	http://purl.obolibrary.org/obo/MONDO_0001456		UMLS:C0154854|SNOMEDCT:69134001|DOID:12166
MONDO:0013419	complement component C1s deficiency	biolink:Disease	mondo	OMIM:613783|MESH:C565170|UMLS:C3151078		C1s deficiency|complement component C1s deficiency|C1SD|complement component C1s deficiency; C1SD	http://purl.obolibrary.org/obo/MONDO_0013419	A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis.	UMLS:C3151078|http://identifiers.org/omim/613783|MESH:C565170
MONDO:0013417	complement component 3 deficiency	biolink:Disease	mondo	NCIT:C9468|UMLS:C1332655|DOID:8354|OMIM:613779|Orphanet:280133|MESH:C565169|ICD10:D84.1|UMLS:C3151071	ordo_disease	complement component 3 deficiency, autosomal recessive; C3d|C3 deficiency|complement component 3 deficiency, autosomal recessive|C3 deficiency, autosomal recessive|classic complement early component deficiency caused by mutation in C3|C3d|C3 classic complement early component deficiency	http://purl.obolibrary.org/obo/MONDO_0013417	A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease.	ORPHA:280133|DOID:8354|UMLS:C3151071|http://identifiers.org/omim/613779|NCIT:C9468|UMLS:C1332655|MESH:C565169
UBERON:0010052	mucosa of dorsum of tongue	biolink:AnatomicalEntity	mondo			mucosa of dorsal surface of tongue	http://purl.obolibrary.org/obo/UBERON_0010052	A mucosa that is part of a dorsum of tongue.	
MONDO:0013418	aortic aneurysm, familial thoracic 7	biolink:Disease	mondo	OMIM:613780|UMLS:C3151077		aortic aneurysm, familial thoracic type 7|aortic aneurysm, familial thoracic 7; AAT7|AAT7|aortic dissection, familial, with or without aortic aneurysm|aortic aneurysm, familial thoracic 7	http://purl.obolibrary.org/obo/MONDO_0013418		http://identifiers.org/omim/613780|UMLS:C3151077
MONDO:0001451	peripheral retinal degeneration	biolink:Disease	mondo	DOID:12161|ICD9:362.60|ICD10:H35.4|SCTID:405721006|UMLS:C1320640|ICD10:H35.40|ICD9:362.6|NCIT:C34919|COHD:437267		peripheral degeneration of retina|peripheral retinal Degeneration	http://purl.obolibrary.org/obo/MONDO_0001451	Degeneration of the peripheral retina.	UMLS:C1320640|NCIT:C34919|DOID:12161|SNOMEDCT:405721006
MONDO:0001450	obsolete arachnoiditis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001450		
UBERON:0010059	hypoglossal cord	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010059		
UBERON:0010056	future tongue	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010056	A compound organ that has the potential to develop into a tongue.	
MONDO:0013422	type I complement component 8 deficiency	biolink:Disease	mondo	HGNC:1352|GARD:0010626|DOID:0060301|ICD10:D84.1|UMLS:C3151081|OMIM:613790	gard_rare	classic complement early component deficiency caused by mutation in C8A|complement component 8 deficiency type I|C8 deficiency, type 1|C8D1|C8 deficiency type I|complement component 8 deficiency, type I|C8A classic complement early component deficiency|C81 deficiency|C8Ag deficiency|complement component 8 deficiency type 1|complement component 8 deficiency, type 1|C8 Alpha-gamma deficiency|complement component 8 deficiency, type I; C8D1	http://purl.obolibrary.org/obo/MONDO_0013422	Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8A gene.	http://identifiers.org/omim/613790|UMLS:C3151081|DOID:0060301
ENVO:03000033	marine sediment	biolink:OntologyClass	mondo			marine sediments	http://purl.obolibrary.org/obo/ENVO_03000033	Sediment which has been transported through the marine water column, settling on the seafloor.	
MONDO:0013423	immunodeficiency due to MASP-2 deficiency	biolink:Disease	mondo	MESH:C565360|ICD10:D84.1|UMLS:C3151085|OMIM:613791|Orphanet:331187	ordo_disease	MASP2 deficiency|lectin complement activation pathway, defect in, 2	http://purl.obolibrary.org/obo/MONDO_0013423	Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic.	http://identifiers.org/omim/613791|UMLS:C3151085|MESH:C565360|ORPHA:331187
MONDO:0013420	age related macular degeneration 12	biolink:Disease	mondo	DOID:0110024|UMLS:C3151079|OMIM:613784		age-related macular degeneration caused by mutation in CX3CR1|ARMD12|macular degeneration, age-related, 12; ARMD12|macular degeneration, age-related, 12|macular Degeneration, age-related, type 12|CX3CR1 age-related macular degeneration|age related macular degeneration type 12	http://purl.obolibrary.org/obo/MONDO_0013420	Any age-related macular degeneration in which the cause of the disease is a mutation in the CX3CR1 gene.	UMLS:C3151079|http://identifiers.org/omim/613784|DOID:0110024
ENVO:03000036	sedimentation in a water body	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_03000036	A material accumulation process during which solid particles are pulled through a water body by gravitation or centrifugal force and which ends when they settle on a solid surface.	
MONDO:0013421	type II complement component 8 deficiency	biolink:Disease	mondo	OMIM:613789|GARD:0010625|UMLS:C3151080|DOID:0060302|ICD10:D84.1|HGNC:1353	gard_rare	classic complement early component deficiency caused by mutation in C8B|Human complement C8-beta deficiency|C8 deficiency, type 2|complement component 8B deficiency|complement component 8 deficiency type II|complement component 8 deficiency, type II|C8 Beta deficiency|complement component 8 deficiency, type 2|complement component 8 deficiency, type II; C8D2|C8B deficiency|C8B classic complement early component deficiency|complement component 8 deficiency type 2|C8D2|C8 deficiency type II	http://purl.obolibrary.org/obo/MONDO_0013421	Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8B gene.	http://identifiers.org/omim/613789|UMLS:C3151080|DOID:0060302
MONDO:0013426	aneurysm-osteoarthritis syndrome	biolink:Disease	mondo	DOID:0070237|OMIM:613795|Orphanet:284984|GARD:0010997|UMLS:C3151087	clingen|ordo_disease	aneurysms-osteoarthritis syndrome|Loeys-Dietz syndrome with osteoarthritis|aneurysm - osteoarthritis syndrome|Loeys-Dietz syndrome 3; LDS3|Loeys-Dietz syndrome, type 1C, formerly|Loeys-Dietz syndrome, type 1C|Loeys-Dietz syndrome 3|Loeys-Dietz syndrome type 3|Loeys-Dietz syndrome, type 3|Loeys-Dietz syndrome, type 1C (formerly)|LDS3	http://purl.obolibrary.org/obo/MONDO_0013426		DOID:0070237|http://identifiers.org/omim/613795|UMLS:C3151087|ORPHA:284984
MONDO:0013427	immunodeficiency 31B	biolink:Disease	mondo	ICD10:D84.8|OMIM:613796|Orphanet:391311|UMLS:C3151088	ordo_disease	immunodeficiency 31B; IMD31B|susceptibility to viral and mycobacterial infections|immunodeficiency type 31B|Stat1 deficiency, autosomal recessive|IMD31B|immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive|STAT1 deficiency|immunodeficiency 31B	http://purl.obolibrary.org/obo/MONDO_0013427		UMLS:C3151088|http://identifiers.org/omim/613796|ORPHA:391311
MONDO:0013424	3p- syndrome	biolink:Disease	mondo	Orphanet:1620|SCTID:763528002|OMIM:613792|NCIT:C41377|DOID:0060417|GARD:0003750|MESH:C536804|GARD:0000037|ICD10:Q93.5	ordo_malformation_syndrome|gard_rare	monosomy 3pter|partial monosomy 3p|distal monosomy 3p|monosomy 3p|3p deletion|deletion 3p|3p- syndrome|3p monosomy|chromosome 3p- syndrome|chromosome 3, monosomy 3p25|del(3p25)|chromosome 3p deletion|distal monosomy type 3p|Del(3p) syndrome|distal 3p deletion|deletion 3p25|telomeric monosomy 3p|chromosome 3pter-p25 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0013424	Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.	DOID:0060417|NCIT:C41377|http://identifiers.org/omim/613792|ORPHA:1620|SNOMEDCT:763528002|MESH:C536804
MONDO:0013425	retinitis pigmentosa 20	biolink:Disease	mondo	ICD10:H35.5|MESH:C566718|OMIM:613794|DOID:0110353|GARD:0010404|HGNC:10294|UMLS:C3151086	gard_rare	RP20|retinitis pigmentosa caused by mutation in RPE65|retinitis pigmentosa 20; RP20|RP 20|retinitis pigmentosa 20|retinitis pigmentosa type 20|RPE65 retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0013425	Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPE65 gene.	UMLS:C3151086|http://identifiers.org/omim/613794|MESH:C566718|DOID:0110353
MONDO:0001449	lymphocytic choriomeningitis	biolink:Disease	mondo	MESH:D008216|COHD:434860|ICD10:A87.2|DOID:12155|ICD9:049.0|UMLS:C0024266		lymphocytic choriomeningitis virus encephalomyelitis|lymphocytic choriomeningitis mammarenavirus caused infectious meningitis|lymphocytic meningitis|lymphocytic choriomeningitis mammarenavirus infectious meningitis|LCM|lymphocytic meningoencephalitis	http://purl.obolibrary.org/obo/MONDO_0001449	A form of meningitis caused by lymphocytic choriomeningitis virus. mice and other rodents serve as the natural hosts, and infection in humans usually occurs through inhalation or ingestion of infectious particles. Clinical manifestations include an influenza-like syndrome followed by stiff neck, alterations of mentation, ataxia, and incontinence. Maternal infections may result in fetal malformations and injury, including neonatal hydrocephalus, aqueductal stenosis, chorioretinitis, and microcephaly. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3)	MESH:D008216|UMLS:C0024266|DOID:12155
NCBITaxon:11089	Yellow fever virus	organism taxon	mondo	GC_ID:1		YFV|Flavivirus febricis|yellow fever virus YFV	http://purl.obolibrary.org/obo/NCBITaxon_11089		
MONDO:0001422	primary aldosteronism	biolink:Disease	mondo	DOID:12028|ICD10:E26.01|COHD:434000|ICD10:E26.0|NCIT:C34510|SCTID:190507007|ICD9:255.12		Conn's syndrome|primary aldosteronism|Conn syndrome|primary hyperaldosteronism	http://purl.obolibrary.org/obo/MONDO_0001422	An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache.	SNOMEDCT:190507007|NCIT:C34510|DOID:12028
NCBITaxon:3744	Rosales	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_3744		
MONDO:0001421	frontal lobe neoplasm	biolink:Disease	mondo	UMLS:C1263886|DOID:12016|ICD9:191.1|ICD10:C71.1|SCTID:126954003|NCIT:C5572		malignant neoplasm of frontal lobe|tumor of the frontal lobe|neoplasm of frontal lobe|frontal lobe tumor|neoplasm of the frontal lobe|tumor of frontal lobe|frontal lobe neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0001421	A neoplasm involving a frontal lobe.	UMLS:C1263886|NCIT:C5572|SNOMEDCT:126954003|DOID:12016
MONDO:0001420	trigeminal nerve neoplasm	biolink:Disease	mondo	SCTID:126971002|UMLS:C1263897|NCIT:C5122|ICD9:239.7|DOID:1201		fifth cranial nerve neoplasm|neoplasm of the trigeminal nerve|cranial nerve V tumors|neoplasm of the fifth cranial nerve|trigeminal nerve neoplasms|neoplasm of fifth cranial nerve|trigeminal nerve neoplasm|fifth cranial nerve tumor|neoplasm of trigeminal nerve|neoplasms, cranial nerve V|trigeminal nerve tumor|tumor of trigeminal nerve|trigeminal nerve tumors|trigeminal nerve neoplasm (disease)|tumor of the trigeminal nerve|cranial nerve V neoplasms|tumor of the fifth cranial nerve|tumor of fifth cranial nerve|tumors, cranial nerve V	http://purl.obolibrary.org/obo/MONDO_0001420	Benign and malignant neoplasms which arise from or metastasize to the trigeminal or fifth cranial nerve which provides sensory innervation to the face, oral cavity and sinuses and the muscles of mastication. Clinical features may include facial pain or sensory loss or weakness of jaw closure.	NCIT:C5122|DOID:1201|UMLS:C1263897|SNOMEDCT:126971002
NCBITaxon:3745	Rosaceae	organism taxon	mondo	GC_ID:1		Malaceae|rose family	http://purl.obolibrary.org/obo/NCBITaxon_3745		
MONDO:0001426	mediastinum neurofibroma	biolink:Disease	mondo	NCIT:C6631|UMLS:C1334674|DOID:12064		mediastinal neurofibroma|mediastinum neurofibroma|neurofibroma of mediastinum|neurofibroma of the mediastinum	http://purl.obolibrary.org/obo/MONDO_0001426	A neurofibroma that arises from the posterior mediastinum. Excision is usually curative.	DOID:12064|NCIT:C6631|UMLS:C1334674
MONDO:0001425	obsolete Rett syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001425		
MONDO:0001424	sarcoid meningitis	biolink:Disease	mondo	ICD10:D86.81|SCTID:192673008|ICD9:321.4|UMLS:C0154648|DOID:12055|COHD:440699		meningitis in sarcoidosis	http://purl.obolibrary.org/obo/MONDO_0001424	Meningitis that arises from sarcoidosis.	DOID:12055|UMLS:C0154648|SNOMEDCT:192673008
MONDO:0001423	drug-induced mental disorder	biolink:Disease	mondo	ICD9:292.89|ICD9:292.8|DOID:1203			http://purl.obolibrary.org/obo/MONDO_0001423		DOID:1203
MONDO:0013408	FADD-related immunodeficiency	biolink:Disease	mondo	UMLS:C4509831|OMIM:613759|Orphanet:306550|SCTID:723334006|UMLS:C3151062	ordo_disease	Fadd deficiency|infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations	http://purl.obolibrary.org/obo/MONDO_0013408	A rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance.	SNOMEDCT:723334006|UMLS:C4509831|ORPHA:306550|http://identifiers.org/omim/613759|UMLS:C3151062
MONDO:0013409	age related macular degeneration 5	biolink:Disease	mondo	OMIM:613761|UMLS:C3151063|DOID:0110028		macular degeneration, age-related, 5|ARMD5|macular Degeneration, age-related, type 5|age related macular degeneration type 5|macular degeneration, age-related, 5; ARMD5|ERCC6 age-related macular degeneration|age-related macular degeneration caused by mutation in ERCC6	http://purl.obolibrary.org/obo/MONDO_0013409	Any age-related macular degeneration in which the cause of the disease is a mutation in the ERCC6 gene.	DOID:0110028|http://identifiers.org/omim/613761|UMLS:C3151063
MONDO:0013406	age related macular degeneration 6	biolink:Disease	mondo	DOID:0110018|OMIM:613757|UMLS:C3151060|MESH:C563674		age related macular degeneration type 6|age-related macular degeneration caused by mutation in RAX2|macular degeneration, age-related, 6|RAX2 age-related macular degeneration|ARMD6|macular Degeneration, age-related, type 6|macular degeneration, age-related, 6; ARMD6	http://purl.obolibrary.org/obo/MONDO_0013406	Any age-related macular degeneration in which the cause of the disease is a mutation in the RAX2 gene.	DOID:0110018|MESH:C563674|http://identifiers.org/omim/613757|UMLS:C3151060
UBERON:0010042	1st arch mesenchyme	biolink:AnatomicalEntity	mondo			mesenchyme of 1st arch	http://purl.obolibrary.org/obo/UBERON_0010042	Mesenchyme that is part of a pharyngeal arch 1.	
MONDO:0013407	retinitis pigmentosa 47	biolink:Disease	mondo	DOID:0110369|OMIM:613758|UMLS:C3151061|ICD10:H35.5		retinitis pigmentosa 47|RP47|SAG retinitis pigmentosa|retinitis pigmentosa type 47|retinitis pigmentosa caused by mutation in SAG|retinitis pigmentosa 47; RP47	http://purl.obolibrary.org/obo/MONDO_0013407	Any retinitis pigmentosa in which the cause of the disease is a mutation in the SAG gene.	DOID:0110369|UMLS:C3151061|http://identifiers.org/omim/613758
UBERON:0010047	oral gland	biolink:AnatomicalEntity	mondo			gland of oral region|oral cavity gland|buccal gland|mouth gland|oral region gland|gland of oral opening	http://purl.obolibrary.org/obo/UBERON_0010047	Gland of the epithelium lining the oral cavity. The most common are the salivary glands.	
ENVO:03000043	material transformation process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_03000043	A process during which a portion of some environmental material is converted into a different material or a collection of materials.	
UBERON:0010045	1st arch maxillary mesenchyme	biolink:AnatomicalEntity	mondo			maxillary component mesenchyme|maxillary mesenchyme|mesenchyme of maxillary component	http://purl.obolibrary.org/obo/UBERON_0010045	Mesenchyme that is part of a 1st arch maxillary component.	
UBERON:0010046	entire pharyngeal arch associated mesenchyme	biolink:AnatomicalEntity	mondo			entire branchial arch associated mesenchyme|associated mesenchyme of pharyngeal region|pharyngeal arch associated mesenchyme	http://purl.obolibrary.org/obo/UBERON_0010046	The sum total of mesenchymal tissue in the pharyngeal arch region. Pharyngeal mesenchyme is undifferentiated, loose connective tissue derived mostly from mesoderm, and also contains ectodermally derived neural crest cells.	
NCBITaxon:3749	Malus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_3749		
MONDO:0013411	cataract 16 multiple types	biolink:Disease	mondo	OMIM:613763|DOID:0110250|MESH:C565134|ICD10:Q12.0		cataract 16, multiple types|cataract, posterior polar, 2|CTPP2|early-onset non-syndromic cataract caused by mutation in CRYAB|CRYAB early-onset non-syndromic cataract|cataract, congenital lamellar|cataract 16, multiple types; CTRCT16|CTRCT16|posterior polar cataract 2	http://purl.obolibrary.org/obo/MONDO_0013411	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYAB gene.	http://identifiers.org/omim/613763|MESH:C565134|DOID:0110250
MONDO:0013412	hypertrophic cardiomyopathy 9	biolink:Disease	mondo	MESH:C566044|UMLS:C1861065|OMIM:613765|DOID:0110315		TTN hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, 9|hypertrophic cardiomyopathy type 9|hypertrophic cardiomyopathy caused by mutation in TTN|cardiomyopathy, familial hypertrophic, type 9|CMH9|cardiomyopathy, familial hypertrophic, 9; CMH9	http://purl.obolibrary.org/obo/MONDO_0013412	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TTN gene.	UMLS:C1861065|http://identifiers.org/omim/613765|MESH:C566044|DOID:0110315
UBERON:0010038	fundic gastric gland	biolink:AnatomicalEntity	mondo			fundus gland|gastric fundus gland|fundal gland|gastric fundal gland|gastric gland of fundus of stomach|glandulae gastricae	http://purl.obolibrary.org/obo/UBERON_0010038	The fundus glands (or fundic glands, or gastric glands) are found in the body and fundus of the stomach. They are simple tubes, two or more of which open into a single duct.	
MONDO:0013410	46,XY sex reversal 6	biolink:Disease	mondo	DOID:0111769|UMLS:C3151064|OMIM:613762		SRXY6|46,XY SEX reversal 6; SRXY6|46,XY Sex reversal type 6|46,XY gonadal dysgenesis, partial or complete, Map3K1-related|46,XY Sex reversal, partial or complete, Map3K1-related|46,XY sex reversal 6	http://purl.obolibrary.org/obo/MONDO_0013410		http://identifiers.org/omim/613762|UMLS:C3151064|DOID:0111769
UBERON:0010039	food storage organ	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010039	An organ of the digestive tract that is capable of retaining and storing food	
MONDO:0013415	chromosome 17p13.1 deletion syndrome	biolink:Disease	mondo	OMIM:613776|GARD:0010996|DOID:0060402|UMLS:C3151069		chromosome 17p13.1 deletion syndrome|17p13.1 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0013415		DOID:0060402|UMLS:C3151069|http://identifiers.org/omim/613776
MONDO:0013416	age related macular degeneration 8	biolink:Disease	mondo	OMIM:613778|UMLS:C3151070|DOID:0110020		macular degeneration, age-related, 8|macular Degeneration, age-related, type 8|age-related macular degeneration caused by mutation in ARMS2|ARMS2 age-related macular degeneration|age related macular degeneration type 8|macular degeneration, age-related, 8; ARMD8|ARMD8	http://purl.obolibrary.org/obo/MONDO_0013416	Any age-related macular degeneration in which the cause of the disease is a mutation in the ARMS2 gene.	http://identifiers.org/omim/613778|UMLS:C3151070|DOID:0110020
MONDO:0013413	retinitis pigmentosa 45	biolink:Disease	mondo	DOID:0110402|UMLS:C3151066|OMIM:613767|ICD10:H35.5		retinitis pigmentosa caused by mutation in CNGB1|CNGB1 retinitis pigmentosa|retinitis pigmentosa type 45|RP45|retinitis pigmentosa 45; RP45|retinitis pigmentosa 45	http://purl.obolibrary.org/obo/MONDO_0013413	Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGB1 gene.	UMLS:C3151066|http://identifiers.org/omim/613767|DOID:0110402
MONDO:0013414	retinitis pigmentosa 44	biolink:Disease	mondo	UMLS:C3151068|ICD10:H35.5|DOID:0110394|OMIM:613769		retinitis pigmentosa 44|retinitis pigmentosa type 44|retinitis pigmentosa caused by mutation in RGR|RGR retinitis pigmentosa|retinitis pigmentosa 44; RP44|RP44	http://purl.obolibrary.org/obo/MONDO_0013414	Any retinitis pigmentosa in which the cause of the disease is a mutation in the RGR gene.	DOID:0110394|http://identifiers.org/omim/613769|UMLS:C3151068
NCBITaxon:11080	Saint Louis encephalitis virus	organism taxon	mondo	GC_ID:1		St. Louis encephalitis virus	http://purl.obolibrary.org/obo/NCBITaxon_11080		
MONDO:0001419	trachea squamous cell carcinoma	biolink:Disease	mondo	NCIT:C4448|SCTID:254620000|DOID:12003|EFO:1000600|UMLS:C0345946		epidermoid carcinoma of the trachea|epidermoid carcinoma of trachea|squamous cell carcinoma of trachea|trachea epidermoid carcinoma|squamous cell carcinoma of the trachea|trachea squamous cell carcinoma|tracheal epidermoid carcinoma|tracheal squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0001419	A rare squamous cell carcinoma that arises from the mucosal lining of the trachea. It usually grows as an intraluminal mass and later invades extraluminal structures. The majority of patients present with hemoptysis, coughing, dyspnea, or stridor.	UMLS:C0345946|DOID:12003|SNOMEDCT:254620000|NCIT:C4448
HP:0012888	Abnormality of the uterine cervix	biolink:PhenotypicFeature	mondo	UMLS:C4022694			http://purl.obolibrary.org/obo/HP_0012888	An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix.	
MONDO:0001418	trachea sarcoma	biolink:Disease	mondo	UMLS:C1336774|DOID:12002|NCIT:C6050		tracheal sarcoma|sarcoma of trachea|trachea sarcoma|sarcoma of the trachea	http://purl.obolibrary.org/obo/MONDO_0001418	A rare malignant soft tissue neoplasm that arises from the trachea.	DOID:12002|NCIT:C6050|UMLS:C1336774
NCBITaxon:11082	West Nile virus	organism taxon	mondo	GC_ID:1		WNV	http://purl.obolibrary.org/obo/NCBITaxon_11082		
MONDO:0001417	tracheal lymphoma	biolink:Disease	mondo	NCIT:C6248|DOID:12001|UMLS:C1336773		lymphoma of the trachea|lymphoma of trachea|primary tracheal lymphoma|tracheal lymphoma|trachea lymphoma	http://purl.obolibrary.org/obo/MONDO_0001417	A rare lymphoma that arises from the trachea. Signs and symptoms include dyspnea, cough, wheezing, and stridor.	DOID:12001|NCIT:C6248|UMLS:C1336773
NCBITaxon:11083	Powassan virus	organism taxon	mondo	GC_ID:1		Flavivirus powassan	http://purl.obolibrary.org/obo/NCBITaxon_11083		
MONDO:0001416	female reproductive organ cancer	biolink:Disease	mondo	ICD10:C51.C58|ICD10:C57|ICD9:184|NCIT:C4913|DOID:120|SCTID:126907002		malignant female reproductive organ neoplasm|malignant gynecologic tumor|malignant neoplasm of female genital organ|malignant neoplasm of female reproductive organ|gynecologic cancer|malignant female reproductive system neoplasm|malignant tumor of female reproductive system|female reproductive system cancer, NOS|female reprod. system cancer, NOS|malignant tumor of the female reproductive system|female reproductive cancer|female reproductive organ cancer|malignant neoplasm of female reproductive system|malignant female reproductive system tumor|malignant gynecologic neoplasm|malignant neoplasm of the female reproductive system|cancer of female reproductive organ	http://purl.obolibrary.org/obo/MONDO_0001416	A primary or metastatic malignant neoplasm involving the female reproductive system. Representative examples include endometrial carcinoma, cervical carcinoma, ovarian carcinoma, uterine corpus leiomyosarcoma, adenosarcoma, malignant mixed mesodermal (mullerian) tumor, and gestational choriocarcinoma.	NCIT:C4913|SNOMEDCT:126907002|DOID:120
NCBITaxon:11084	Tick-borne encephalitis virus	organism taxon	mondo	GC_ID:1		TBEV|tick-borne encephalitis virus TBEV|FSME virus	http://purl.obolibrary.org/obo/NCBITaxon_11084		
NCBITaxon:11086	Louping ill virus	organism taxon	mondo	GC_ID:1		LI	http://purl.obolibrary.org/obo/NCBITaxon_11086		
MONDO:0001433	vaginal disease	biolink:Disease	mondo	DOID:121|MESH:D014623|UMLS:C0042251|NCIT:C26910|SCTID:25658005		vaginal disorder|vagina disease or disorder|disorder of vagina|disease of vagina|disease or disorder of vagina|vagina disease|vaginal disease	http://purl.obolibrary.org/obo/MONDO_0001433	A non-neoplastic or neoplastic disorder that affects the vagina. Representative examples include vaginal infection, vaginal polyp, and vaginal squamous cell carcinoma.	NCIT:C26910|SNOMEDCT:25658005|MESH:D014623|UMLS:C0042251|DOID:121
NCBITaxon:3754	Prunus	organism taxon	mondo	PMID:24631854|GC_ID:1		Prunus subg. Amygdalus|Prunus subg. Cerasus|Prunus subg. Armeniaca	http://purl.obolibrary.org/obo/NCBITaxon_3754		
MONDO:0001432	obsolete sodoku disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001432		
MONDO:0001431	toxic or nutritional optic neuropathy	biolink:Disease	mondo	SCTID:82108004|DOID:1209|ICD10:H46.2|UMLS:C0155302|ICD9:377.33		nutritional optic neuropathy	http://purl.obolibrary.org/obo/MONDO_0001431	A disease with basis in optic nerve damage secondary to a toxic substance and/or nutritional deficiency.	SNOMEDCT:82108004|UMLS:C0155302|DOID:1209
MONDO:0001430	deep corneal vascularisation	biolink:Disease	mondo	ICD10:H16.44|UMLS:C0155095|ICD9:370.63|DOID:12087|SCTID:2102007		deep vascularization of cornea	http://purl.obolibrary.org/obo/MONDO_0001430		UMLS:C0155095|DOID:12087|SNOMEDCT:2102007
MONDO:0001437	pulmonary alveolar proteinosis	biolink:Disease	mondo	SCTID:10501004|COHD:435853|UMLS:C0034050|MESH:D011649|DOID:12120|NCIT:C85037|ICD10:J84.01|Reactome:R-HSA-5683826|ICD9:516.0		pulmonary alveolar proteinosis|PAP	http://purl.obolibrary.org/obo/MONDO_0001437	A rare lung disorder characterized by the filling of the pulmonary alveoli with proteinaceous material which stains positive with periodic acid-Schiff stain. It may be idiopathic or secondary due to hematologic malignancies or the inhalation of mineral dusts. Signs and symptoms include dyspnea, cough and low grade fever.	DOID:12120|MESH:D011649|NCIT:C85037|UMLS:C0034050|SNOMEDCT:10501004
MONDO:0001436	hemosiderosis	biolink:Disease	mondo	NCIT:C82892|GARD:0006595|UMLS:C0019114|MESH:D006486|SCTID:39011001|DOID:12119	gard_rare	haemosiderosis	http://purl.obolibrary.org/obo/MONDO_0001436	Accumulation of iron in internal organs.	MESH:D006486|SNOMEDCT:39011001|NCIT:C82892|UMLS:C0019114|DOID:12119
NCBITaxon:3750	Malus domestica	organism taxon	mondo	GC_ID:1		Malus x domestica|apple tree|cultivated apple|Pyrus malus|Malus pumila var. domestica|Malus sylvestris var. domestica|Malus pumila auct.|Malus communis|apple	http://purl.obolibrary.org/obo/NCBITaxon_3750		
HP:0012874	Abnormal male reproductive system physiology	biolink:PhenotypicFeature	mondo	UMLS:C4020716		Abnormal male genital system physiology	http://purl.obolibrary.org/obo/HP_0012874	An abnormal functionality of the male genital system.	
MONDO:0001435	bullous retinoschisis	biolink:Disease	mondo	UMLS:C0344289|SCTID:65545003|COHD:381288|DOID:12108|ICD9:361.12			http://purl.obolibrary.org/obo/MONDO_0001435		SNOMEDCT:65545003|UMLS:C0344289|DOID:12108
MONDO:0001434	inflammatory spondylopathy	biolink:Disease	mondo	SCTID:202649003|DOID:12105|COHD:133295|ICD9:720.9|ICD9:720.89|ICD9:720.81		inflammatory spondylopathies in disease classified elsewhere|inflammatory spondylopathies in disease EC|inflammatory spondylopathy in disease classified elsewhere	http://purl.obolibrary.org/obo/MONDO_0001434		SNOMEDCT:202649003|DOID:12105
UBERON:0009042	prostatic venous plexus	biolink:AnatomicalEntity	mondo			plexus venosus prostaticus|pudendal venous plexus	http://purl.obolibrary.org/obo/UBERON_0009042	The prostatic veins form a well-marked prostatic plexus which lies partly in the fascial sheath of the prostate and partly between the sheath and the prostatic capsule. It communicates with the pudendal and vesical plexuses.	
UBERON:0010032	anterior part of tongue	biolink:AnatomicalEntity	mondo			apex of the tongue|anterior 2/3 of tongue|anterior 2/3 of the tongue|pars anterior dorsi linguae|apex linguae|front of the tongue|anterior two thirds of the tongue|oral part of the tongue|buccal part of the tongue	http://purl.obolibrary.org/obo/UBERON_0010032	The portion of the tongue in front of the terminal sulcus. At the apex, thin and narrow, it is directed forward against the lingual surfaces of the lower incisor teeth. It is derived primarily from the first pharyngeal arch.	
UBERON:0010031	6th arch mesenchyme	biolink:AnatomicalEntity	mondo			6th pharyngeal arch mesenchyme|pharyngeal arch 6 mesenchyme|6th branchial arch mesenchyme	http://purl.obolibrary.org/obo/UBERON_0010031	Mesenchyme that is part of a pharyngeal arch 6.	
NCBITaxon:3758	Prunus domestica	organism taxon	mondo	GC_ID:1		plum	http://purl.obolibrary.org/obo/NCBITaxon_3758		
MONDO:0013400	Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	biolink:Disease	mondo	UMLS:C3151055|Orphanet:168558|OMIM:613743|MESH:C566130|NCIT:C131422|ICD10:Q56.1|DOID:0050546	ordo_disease	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency|cholesterol side-chain Cleavage deficiency|XY sex reversal-adrenal failure syndrome|p450scc deficiency|XY sex reversal-adrenal failure|adrenal insufficiency, congenital, with 46,XY SEX reversal, partial or complete|46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0013400	CLAH due to loss-of-function mutations in the CYP11A1 gene, resulting in decreased or absent activity of the enzyme P450scc, which leads to reduced conversion of cholesterol to pregnenolone, the first step in steroidogenesis.	NCIT:C131422|ORPHA:168558|http://identifiers.org/omim/613743|MESH:C566130|UMLS:C3151055|DOID:0050546
MONDO:0013401	hereditary spastic paraplegia 51	biolink:Disease	mondo	UMLS:C3151056|OMIM:613744|GARD:0010999|DOID:0110803		cerebral palsy, spastic quadriplegic, 4, formerly|AP4E1 hereditary spastic paraplegia|cerebral palsy, spastic quadriplegic, 4|CPSQ4|spastic quadriplegic cerebral palsy 4|spastic paraplegia 51, autosomal recessive|hereditary spastic paraplegia type 51|hereditary spastic paraplegia caused by mutation in AP4E1|autosomal dominant spastic paraplegia 51|SPG51|spastic paraplegia 51, autosomal recessive; SPG51	http://purl.obolibrary.org/obo/MONDO_0013401	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4E1 gene.	DOID:0110803|UMLS:C3151056|http://identifiers.org/omim/613744
MONDO:0013404	hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	biolink:Disease	mondo	ICD10:E72.1|DOID:0111039|GARD:0013177|Orphanet:88618|SCTID:724039002|UMLS:C3151058|UMLS:C4510276|OMIM:613752	ordo_disease	hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency|psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency|hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency	http://purl.obolibrary.org/obo/MONDO_0013404	Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterised by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels.	SNOMEDCT:724039002|UMLS:C4510276|ORPHA:88618|http://identifiers.org/omim/613752|UMLS:C3151058|DOID:0111039
MONDO:0013405	retinitis pigmentosa 49	biolink:Disease	mondo	UMLS:C3151059|ICD10:H35.5|DOID:0110377|OMIM:613756		retinitis pigmentosa type 49|retinitis pigmentosa 49; RP49|retinitis pigmentosa caused by mutation in CNGA1|CNGA1 retinitis pigmentosa|RP49|retinitis pigmentosa 49	http://purl.obolibrary.org/obo/MONDO_0013405	Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGA1 gene.	DOID:0110377|UMLS:C3151059|http://identifiers.org/omim/613756
MONDO:0013402	retinitis pigmentosa 27	biolink:Disease	mondo	UMLS:C1834329|ICD10:H35.5|OMIM:613750|MESH:C563526|DOID:0110397		NRL retinitis pigmentosa|retinitis pigmentosa 27|retinitis pigmentosa type 27|retinitis pigmentosa caused by mutation in NRL|retinal Degeneration, autosomal recessive, Clumped pigment type|retinitis pigmentosa 27; RP27|RP27	http://purl.obolibrary.org/obo/MONDO_0013402	Any retinitis pigmentosa in which the cause of the disease is a mutation in the NRL gene.	DOID:0110397|MESH:C563526|UMLS:C1834329|http://identifiers.org/omim/613750
MONDO:0013403	heterotaxy, visceral, 4, autosomal	biolink:Disease	mondo	OMIM:613751|UMLS:C3151057		HTX4|heterotaxy, visceral, 4, autosomal|ACVR2B visceral heterotaxy|heterotaxy, visceral, 4, autosomal; HTX4|visceral heterotaxy caused by mutation in ACVR2B	http://purl.obolibrary.org/obo/MONDO_0013403	Any visceral heterotaxy in which the cause of the disease is a mutation in the ACVR2B gene.	UMLS:C3151057|http://identifiers.org/omim/613751
MONDO:0001429	transient arthropathy	biolink:Disease	mondo	ICD9:716.48|ICD9:716.40|ICD9:716.41|COHD:81930|SCTID:66191007|DOID:12084|NCIT:C35761		transient arthropathy involving pelvic region and thigh|transient arthropathy involving shoulder region|transient arthropathy involving hand|transient arthropathy involving multiple sites|transient arthropathy involving forearm|transient arthropathy involving lower leg|transient arthropathy involving upper arm	http://purl.obolibrary.org/obo/MONDO_0001429	Arthropathy that is not permanent.	SNOMEDCT:66191007|DOID:12084|NCIT:C35761
NCBITaxon:3760	Prunus persica	organism taxon	mondo	GC_ID:1		peach|Persica vulgaris|Amygdalus persica	http://purl.obolibrary.org/obo/NCBITaxon_3760		
MONDO:0001428	pylorospasm	biolink:Disease	mondo	COHD:194071|ICD9:537.81|UMLS:C0152163|SCTID:335002|DOID:12072			http://purl.obolibrary.org/obo/MONDO_0001428		DOID:12072|UMLS:C0152163|SNOMEDCT:335002
MONDO:0001427	Dieulafoy lesion	biolink:Disease	mondo	ICD10:K31.82|DOID:12070|UMLS:C0341217|ICD9:537.84|GARD:0010930|SCTID:109558001	gard_rare	Exulceratio simplex Dieulafoy|Dieulafoy lesion (hemorrhagic) of intestine|Dieulafoy disease|Dieulafoy lesion (hemorrhagic) of stomach and duodenum|Dieulafoy's lesion	http://purl.obolibrary.org/obo/MONDO_0001427	Dieulafoy lesion is an abnormally large artery (a vessel that takes blood from the heart to other areas of the body) in the lining of the gastrointestinal system. It is most common in the stomach but can occur in other locations, including the small and large intestine. Dieulafoy lesions can cause severe and sudden gastrointestinal bleeding. The condition occurs in people of all ages, but is more common in males than in females.Depending upon the site of the bleeding, symptoms may include vomiting up blood (hematemesis); sticky, dark-colored stools (melena); passage of fresh blood in the stool (hematochezia); or coughing up blood (hemoptysis). Some affected individuals may only present with blood pressure problems. Treatment may include endoscopic and/or surgical techniques. Though treatment can be effective, Dieulafoy lesions and the associated blood loss can be fatal, especially if not diagnosed and treated promptly.	DOID:12070|UMLS:C0341217|SNOMEDCT:109558001
NCBITaxon:11095	Pestivirus	organism taxon	mondo	PMID:7747470|PMID:12832207|GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_11095		
HGNC:359	AIPL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/359		
HGNC:358	AIP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/358		
CHEBI:49020	hormone antagonist	biolink:ChemicalSubstance	mondo			hormone antagonists	http://purl.obolibrary.org/obo/CHEBI_49020	A chemical substance which inhibits the function of the endocrine glands, the biosynthesis of their secreted hormones, or the action of hormones upon their specific sites.	
CHEBI:49023	prostaglandin antagonist	biolink:ChemicalSubstance	mondo			prostaglandin inhibitor	http://purl.obolibrary.org/obo/CHEBI_49023	A compound that inhibits the action of prostaglandins.	
GO:1902262	apoptotic process involved in blood vessel morphogenesis	biolink:OntologyClass	mondo			apoptosis involved in patterning of blood vessels|type I programmed cell death involved in patterning of blood vessels|signaling (initiator) caspase activity involved in patterning of blood vessels|apoptotic cell death involved in patterning of blood vessels|apoptotic programmed cell death involved in patterning of blood vessels|apoptotic program involved in patterning of blood vessels|programmed cell death by apoptosis involved in patterning of blood vessels	http://purl.obolibrary.org/obo/GO_1902262	Any apoptotic process that is involved in blood vessel morphogenesis.	
GO:0001539	cilium or flagellum-dependent cell motility	biolink:OntologyClass	mondo			ciliary/flagellar motility|ciliary or bacterial-type flagellar motility	http://purl.obolibrary.org/obo/GO_0001539	Cell motility due to movement of eukaryotic cilia or bacterial-type flagella or archaeal-type flagella.	
HGNC:368	AKAP10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/368		
HP:0000802	Impotence	biolink:PhenotypicFeature	mondo	MSH:D007172|SNOMEDCT_US:397803000|UMLS:C0242350		Difficulty getting an erection|Difficulty getting a full erection	http://purl.obolibrary.org/obo/HP_0000802	Inability to develop or maintain an erection of the penis.	
HGNC:362	AK2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/362		
HGNC:361	AK1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/361		
HGNC:360	AIRE	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/360		
GO:1902271	D3 vitamins binding	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1902271	Interacting selectively and non-covalently with D3 vitamins.	
HGNC:336	AGTR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/336		
HGNC:333	AGT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/333		
HGNC:330	AGRP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/330		
CHEBI:27690	acetazolamide	biolink:ChemicalSubstance	mondo			acetazolamide|acetazolamidum|Defiltran|acetazolamida|5-acetylamino-1,3,4-thiadiazole-2-sulfonamide|2-acetylamino-1,3,4-thiadiazole-5-sulfonamide|Diluran|5-ACETAMIDO-1,3,4-THIADIAZOLE-2-SULFONAMIDE|Glaupax|Acetazolamide|N-[5-(aminosulfonyl)-1,3,5-thiadiazol-2-yl]acetamide|N-(5-sulfamoyl-1,3,4-thiadiazol-2-yl)acetamide|N-[5-(aminosulfonyl)-1,3,4-thiadiazol-2-yl]acetamide|Diacarb|Diamox	http://purl.obolibrary.org/obo/CHEBI_27690		
HGNC:7501	MT-TW	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7501		
HGNC:7500	MT-TV	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7500		
HGNC:329	AGRN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/329		
GO:0001523	retinoid metabolic process	biolink:OntologyClass	mondo			retinoid metabolism	http://purl.obolibrary.org/obo/GO_0001523	The chemical reactions and pathways involving retinoids, any member of a class of isoprenoids that contain or are derived from four prenyl groups linked head-to-tail. Retinoids include retinol and retinal and structurally similar natural derivatives or synthetic compounds, but need not have vitamin A activity.	
NCBITaxon:376913	Haplorrhini	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_376913		
HGNC:343	AHCY	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/343		
NCBITaxon:35082	Cryptosporidiidae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_35082		
HGNC:7508	MUC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7508		
HGNC:341	AGXT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/341		
HGNC:7516	MUC5B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7516		
HGNC:7518	MUC7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7518		
CHEBI:37022	amino-acid anion	biolink:ChemicalSubstance	mondo			amino acid anions|amino-acid anion|amino-acid anions	http://purl.obolibrary.org/obo/CHEBI_37022		
HGNC:317	AFP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/317		
HGNC:315	AFG3L2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/315		
NCBITaxon:86661	Bacillus cereus group	organism taxon	mondo	PMID:23475340|PMID:1715736|GC_ID:11|PMID:26373441			http://purl.obolibrary.org/obo/NCBITaxon_86661		
HP:0000834	Abnormality of the adrenal glands	biolink:PhenotypicFeature	mondo	UMLS:C0001621|SNOMEDCT_US:30171000|MSH:D000307|UMLS:C4021794		Adrenal gland disease|Adrenal abnormalities	http://purl.obolibrary.org/obo/HP_0000834	Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys.	
HGNC:7523	TRIM37	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7523		
HGNC:7525	MUSK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7525		
HGNC:7527	MUTYH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7527		
HGNC:7526	MMUT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7526		
HGNC:7529	MVD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7529		
HP:0000830	Anterior hypopituitarism	biolink:PhenotypicFeature	mondo	UMLS:C4025821			http://purl.obolibrary.org/obo/HP_0000830	A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.	
HP:0012823	Clinical modifier	biolink:PhenotypicFeature	mondo	UMLS:C4021064		Phenotypic modifier	http://purl.obolibrary.org/obo/HP_0012823	This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects.	
HP:0012824	Severity	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:103370009|UMLS:C0522510		Intensity	http://purl.obolibrary.org/obo/HP_0012824	The intensity or degree of a manifestation.	
HP:0012825	Mild	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:446411000124101|UMLS:C1513302		Mild	http://purl.obolibrary.org/obo/HP_0012825	Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean.	
HP:0012826	Moderate	biolink:PhenotypicFeature	mondo	UMLS:C0205081|SNOMEDCT_US:446421000124109|SNOMEDCT_US:6736007			http://purl.obolibrary.org/obo/HP_0012826	Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean.	
HP:0012828	Severe	biolink:PhenotypicFeature	mondo	UMLS:C0205082|SNOMEDCT_US:24484000		Severe	http://purl.obolibrary.org/obo/HP_0012828	Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean.	
CHEBI:52625	inorganic hydroxy compound	biolink:ChemicalSubstance	mondo			inorganic hydroxides	http://purl.obolibrary.org/obo/CHEBI_52625		
HGNC:327	AGPS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/327		
GO:0001501	skeletal system development	biolink:OntologyClass	mondo			skeletal development	http://purl.obolibrary.org/obo/GO_0001501	The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton).	
HGNC:325	AGPAT2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/325		
HGNC:321	AGL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/321		
HP:0000843	Hyperparathyroidism	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:66999008|UMLS:C0020502|MSH:D006961		Elevated blood parathyroid hormone level	http://purl.obolibrary.org/obo/HP_0000843	Excessive production of parathyroid hormone (PTH) by the parathyroid glands.	
HP:0000846	Adrenal insufficiency	biolink:PhenotypicFeature	mondo	MSH:D000309|SNOMEDCT_US:386584007|SNOMEDCT_US:237785004|SNOMEDCT_US:111563005|UMLS:C0001623		Hypoadrenalism	http://purl.obolibrary.org/obo/HP_0000846	Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands.	
HP:0000847	Abnormality of renin-angiotensin system	biolink:PhenotypicFeature	mondo	UMLS:C4021793		Abnormality of the renin-aldosterone axis	http://purl.obolibrary.org/obo/HP_0000847	An abnormality of the renin-angiotensin system.	
HGNC:7534	MXI1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7534		
HP:0000842	Hyperinsulinemia	biolink:PhenotypicFeature	mondo	UMLS:C0020459|SNOMEDCT_US:83469008|MSH:D006946		Elevated insulin level	http://purl.obolibrary.org/obo/HP_0000842	An increased concentration of insulin in the blood.	
GO:0001508	action potential	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0001508	A process in which membrane potential cycles through a depolarizing spike, triggered in response to depolarization above some threshold, followed by repolarization. This cycle is driven by the flow of ions through various voltage gated channels with different thresholds and ion specificities.	
GO:0001503	ossification	biolink:OntologyClass	mondo			bone formation|osteogenesis|bone biosynthesis	http://purl.obolibrary.org/obo/GO_0001503	The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.	
HGNC:7530	MVK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7530		
GO:0001505	regulation of neurotransmitter levels	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0001505	Any process that modulates levels of neurotransmitter.	
HGNC:319	ACAN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/319		
HGNC:318	AGA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/318		
HP:0000819	Diabetes mellitus	biolink:PhenotypicFeature	mondo	MSH:D003920|SNOMEDCT_US:73211009|UMLS:C0011849			http://purl.obolibrary.org/obo/HP_0000819	A group of abnormalities characterized by hyperglycemia and glucose intolerance.	
HP:0000818	Abnormality of the endocrine system	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:362969004|MSH:D004700|UMLS:C0014130|UMLS:C4025823		Endocrine system disease	http://purl.obolibrary.org/obo/HP_0000818	An abnormality of the endocrine system.	
HP:0000811	Abnormal external genitalia	biolink:PhenotypicFeature	mondo	UMLS:C4025825		Abnormal external genitalia	http://purl.obolibrary.org/obo/HP_0000811		
HP:0000812	Abnormal internal genitalia	biolink:PhenotypicFeature	mondo	UMLS:C4025824		Abnormal internal genitalia	http://purl.obolibrary.org/obo/HP_0000812	An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male).	
HP:0000815	Hypergonadotropic hypogonadism	biolink:PhenotypicFeature	mondo	UMLS:C0948896|SNOMEDCT_US:370999003|MSH:D007006		Hypergonadotrophic hypogonadism|Primary hypogonadism	http://purl.obolibrary.org/obo/HP_0000815	Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.	
UBERON:0012615	umbilical smooth muscle	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0012615	A smooth muscle tissue that is part of a umbilical cord.	
NCBITaxon:72041	Eumalacostraca	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_72041		
HGNC:7549	MYBPC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7549		
HP:0000829	Hypoparathyroidism	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:36976004|MSH:D007011|UMLS:C0020626		Decreased parathyroid hormone secretion|Low parathyroid hormone	http://purl.obolibrary.org/obo/HP_0000829	A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.	
HP:0000822	Hypertension	biolink:PhenotypicFeature	mondo	MSH:D006973|UMLS:C0497247|UMLS:C0020538|SNOMEDCT_US:24184005|SNOMEDCT_US:38341003		High blood pressure|Systemic hypertension	http://purl.obolibrary.org/obo/HP_0000822	The presence of chronic increased pressure in the systemic arterial system.	
HP:0000826	Precocious puberty	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:400179000|UMLS:C0034013|MSH:D011629|SNOMEDCT_US:123527003		Early onset of puberty|Early puberty	http://purl.obolibrary.org/obo/HP_0000826	The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.	
HP:0000828	Abnormality of the parathyroid gland	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:73132005|UMLS:C0030517|MSH:D010279|UMLS:C4025822		Parathyroid disease	http://purl.obolibrary.org/obo/HP_0000828	An abnormality of the parathyroid gland.	
CHEBI:25000	lactone	biolink:ChemicalSubstance	mondo			Lakton|lactona|lactones|Laktone|lactonas|lactone|Lacton	http://purl.obolibrary.org/obo/CHEBI_25000	Any cyclic carboxylic ester containing a 1-oxacycloalkan-2-one structure, or an analogue having unsaturation or heteroatoms replacing one or more carbon atoms of the ring.	
HGNC:7559	MYCN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7559		
HP:0000820	Abnormality of the thyroid gland	biolink:PhenotypicFeature	mondo	MSH:D013959|UMLS:C0040128|SNOMEDCT_US:14304000		Thyroid disease|Thyroid abnormality|Abnormality of the thyroid gland	http://purl.obolibrary.org/obo/HP_0000820	An abnormality of the thyroid gland.	
HGNC:7551	MYBPC3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7551		
HGNC:7553	MYC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7553		
ENVO:01000314	high osmolarity environment	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000314	A high osmolarity environment is an environment in which entities are exposed to high concentrations of solutes.	
ENVO:01000317	aquatic environment	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000317	An environment whose dynamics are strongly influenced by water.	
ENVO:01000313	anthropogenic environment	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000313	An anthropogenic environment is an environmental system which is the product of human activity.	
ENVO:01000319	rocky slope	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000319	A rocky slope is a slope which has a surface primarily composed of rock.	
CL:0000362	epidermal cell	biolink:Cell	mondo	BTO:0001470|CALOHA:TS-0283|FMA:62411		cell of epidermis|epithelial cell of skin	http://purl.obolibrary.org/obo/CL_0000362	An epithelial cell of the integument (the outer layer of an organism).	
UBERON:4000013	mineralized skeletal tissue	biolink:AnatomicalEntity	mondo			mineralized tissue	http://purl.obolibrary.org/obo/UBERON_4000013	Skeletal tissue that is mineralized.	
ENVO:01000303	endolithic environment	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000303	An endolithic environment is an environment that exists within solid rock.	
GO:0050433	regulation of catecholamine secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0050433	Any process that modulates the frequency, rate or extent of the regulated release of catecholamines.	
ENVO:01000304	high pressure environment	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000304	A high pressure environment is an environment in which all material entities are exposed to a high ratio of force per unit area.	
ENVO:01000305	high temperature environment	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000305	A high temperature environment is an environment in which material entities are exposed to increased levels of heat radiation or which have molecules or atoms moving randomly with increased levels of average kinietic energy.	
GO:0050432	catecholamine secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0050432	The regulated release of catecholamines by a cell. The catecholamines are a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine.	
ENVO:01000307	saline water environment	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000307	An environmental system which has its properties and dynamics determined by saline water.	
ENVO:01000309	cold environment	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000309	An environment which has a lower temperature than some local or global average.	
ENVO:01000334	talus slope	biolink:OntologyClass	mondo			scree slope	http://purl.obolibrary.org/obo/ENVO_01000334	A talus slope is a slope which has a surface layer composed of scree.	
HGNC:24054	KNL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24054		
ENVO:01000325	aquatic layer	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000325	A layer in a water mass, itself composed primarily of water.	
ENVO:01000321	sea water environment	biolink:OntologyClass	mondo			ocean water environment	http://purl.obolibrary.org/obo/ENVO_01000321	An environmental system determined by seawater.	
ENVO:01000323	atmospheric boundary layer	biolink:OntologyClass	mondo			planetary boundary layer	http://purl.obolibrary.org/obo/ENVO_01000323	The atmospheric boundary layer is the lowest layer of an atmosphere which is strongly influenced by its contact with a planetary surface with strong vertical mixing and in which physical quantities such as flow velocity, temperature, and moisture display rapid fluctuations (turbulence).	
ENVO:01000324	planetary surface	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000324	A planetary surface is a surface layer where the solid or liquid material of a planet comes into contact with an atmosphere or outer space.	
CL:0000354	blastemal cell	biolink:Cell	mondo	ncithesaurus:Blastemal_Cell		blastema cell	http://purl.obolibrary.org/obo/CL_0000354		
CL:0000357	stratified epithelial stem cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000357		
ENVO:01000320	marine environment	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000320	A marine environment and enviroment which is determined by a marine water body.	
HGNC:24039	CLMP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24039		
HGNC:399	ALB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/399		
CL:0000325	stuff accumulating cell	biolink:Cell	mondo		_upper_level		http://purl.obolibrary.org/obo/CL_0000325	A cell that is specialised to accumulate a particular substance(s).	
HGNC:397	ALAS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/397		
CL:0000327	extracellular matrix secreting cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000327		
HGNC:395	ALAD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/395		
CL:0000329	oxygen accumulating cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000329		
HGNC:24035	APPL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24035		
HGNC:393	AKT3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/393		
HGNC:24036	APC2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24036		
HGNC:392	AKT2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/392		
HGNC:391	AKT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/391		
HGNC:26690	CEP120	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26690		
CL:0000322	pneumocyte	biolink:Cell	mondo	CALOHA:TS-2168|FMA:62499|BTO:0000395		alveolar epithelial cell|pneumonocyte	http://purl.obolibrary.org/obo/CL_0000322	An epithelial cell that lines the peripheral gas exchange region of the lungs of air-breathing vertebrates.	
CL:0000336	adrenal medulla chromaffin cell	biolink:Cell	mondo	FMA:69262		medullary chromaffin cell of adrenal gland	http://purl.obolibrary.org/obo/CL_0000336	A cell found within the adrenal medulla that secrete biogenic amine hormones upon stimulation.	
CL:0000339	glioblast (sensu Vertebrata)	biolink:Cell	mondo	FMA:70564		spongioblast	http://purl.obolibrary.org/obo/CL_0000339	An early neural cell developing from the early ependymal cell of the neural tube.	
GO:1902224	ketone body metabolic process	biolink:OntologyClass	mondo			ketone body metabolism	http://purl.obolibrary.org/obo/GO_1902224	The chemical reactions and pathways involving ketone body.	
GO:1902221	erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process	biolink:OntologyClass	mondo			erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolism	http://purl.obolibrary.org/obo/GO_1902221	The chemical reactions and pathways involving erythrose 4-phosphate/phosphoenolpyruvate family amino acid.	
CL:0000333	migratory neural crest cell	biolink:Cell	mondo	FMA:86667			http://purl.obolibrary.org/obo/CL_0000333	A cell derived from the specialized ectoderm flanking each side of the embryonic neural plate, which after the closure of the neural tube, forms masses of cells that migrate out from the dorsal aspect of the neural tube to spread throughout the body.	
NCBITaxon:2169701	Onyong-nyong virus	organism taxon	mondo	GC_ID:1		ONN|O'nyong-nyong virus	http://purl.obolibrary.org/obo/NCBITaxon_2169701		
HGNC:379	AKAP9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/379		
CL:0000300	gamete	biolink:Cell	mondo	CALOHA:TS-0395|FBbt:00005412|FMA:18649		haploid germ cell|haploid nucleated cell	http://purl.obolibrary.org/obo/CL_0000300	A mature sexual reproductive cell having a single set of unpaired chromosomes.	
HGNC:12033	TRAF3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12033		
HGNC:388	AKR1D1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/388		
HGNC:387	AKR1C4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/387		
HGNC:385	AKR1C2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/385		
CL:0000319	mucus secreting cell	biolink:Cell	mondo	BTO:0003689		mucous cell	http://purl.obolibrary.org/obo/CL_0000319		
CL:0000311	keratin accumulating cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000311		
CL:0000312	keratinocyte	biolink:Cell	mondo	FMA:62879|BTO:0000667|CALOHA:TS-0500		malpighian cell|keratinized cell of epidermis	http://purl.obolibrary.org/obo/CL_0000312	An epidermal cell which synthesizes keratin and undergoes a characteristic change as it moves upward from the basal layers of the epidermis to the cornified (horny) layer of the skin. Successive stages of differentiation of the keratinocytes forming the epidermal layers are basal cell, spinous or prickle cell, and the granular cell.	
CL:0000313	serous secreting cell	biolink:Cell	mondo	FMA:62511|BTO:0003687		serous cell	http://purl.obolibrary.org/obo/CL_0000313	Columnar glandular cell with irregular nucleus, copious granular endoplasmic reticulum and supranuclear granules. Secretes a watery fluid containing proteins known as serous fluid.	
MONDO:0001488	anterior corneal pigmentation	biolink:Disease	mondo	SCTID:18377001|DOID:12307|ICD9:371.11|ICD10:H18.01|UMLS:C0155104		anterior corneal pigmentations	http://purl.obolibrary.org/obo/MONDO_0001488		UMLS:C0155104|SNOMEDCT:18377001|DOID:12307
MONDO:0001487	intrahepatic bile duct cancer	biolink:Disease	mondo	ICD9:155.1|UMLS:C0546835|SCTID:187777008|DOID:12298		Ca intrahepatic bile ducts|malignant neoplasm of intrahepatic bile ducts|malignant neoplasm of intrahepatic bile duct|malignant intrahepatic bile duct neoplasm|malignant neoplasm of intrahepatic biliary passages|cancer of intrahepatic bile duct	http://purl.obolibrary.org/obo/MONDO_0001487	A cancer that involves the intrahepatic bile duct.	SNOMEDCT:187777008|DOID:12298|UMLS:C0546835
NCBITaxon:11102	Hepacivirus	organism taxon	mondo	GC_ID:1		Hepatitis C viruses|Hepatitis C-like viruses|Hepatitis C virus group	http://purl.obolibrary.org/obo/NCBITaxon_11102		
MONDO:0025457	pulmonary adenomatosis, ovine	biolink:Disease	mondo	MESH:D011648|UMLS:C0034049		Ovine pulmonary carcinomas|carcinomas, Ovine pulmonary|pulmonary carcinomas, Ovine|pulmonary Ovine Adenomatoses|Ovine pulmonary Adenomatoses|pulmonary carcinoma, Ovine|adenomatosis, pulmonary, Ovine|pulmonary Ovine adenomatosis|Ovine pulmonary adenomatosis|adenomatosis, pulmonary Ovine|adenomatosis, Ovine pulmonary|Ovine adenomatosis, pulmonary|Ovine pulmonary carcinoma|Jaagsiekte|Adenomatoses, Ovine pulmonary|Adenomatoses, pulmonary Ovine|Ovine Adenomatoses, pulmonary|pulmonary Adenomatoses, Ovine|carcinoma, Ovine pulmonary	http://purl.obolibrary.org/obo/MONDO_0025457	A contagious, neoplastic, pulmonary disease of sheep characterized by hyperplasia and hypertrophy of pneumocytes and epithelial cells of the lung. It is caused by jaagsiekte sheep retrovirus.	MESH:D011648|UMLS:C0034049
MONDO:0001486	obsolete Vogt-Koyanagi-Harada disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001486		
MONDO:0001485	atypical depressive disorder	biolink:Disease	mondo	DOID:12294|ICD9:296.82|COHD:438727|ICD10:F32.8|SCTID:191659001		atypical depression	http://purl.obolibrary.org/obo/MONDO_0001485	A mood disorder that is characterized by mood reactivity (paradoxical anhedonia) and positivity, significant weight gain or increased appetite ("comfort eating"), excessive sleep or somnolence (hypersomnia), a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection.	DOID:12294|SNOMEDCT:191659001
NCBITaxon:11103	Hepacivirus C	organism taxon	mondo	GC_ID:1		human hepatitis C virus|hepatitis C virus HCV|post-transfusion hepatitis non A non B virus|human hepatitis C virus HCV|human hepatitis virus C HCV|HCV|Hepatitis C virus	http://purl.obolibrary.org/obo/NCBITaxon_11103		
MONDO:0025459	rinderpest	biolink:Disease	mondo	MESH:D012301|UMLS:C0035637		plague, cattle|cattle plague	http://purl.obolibrary.org/obo/MONDO_0025459	A viral disease of cloven-hoofed animals caused by morbillivirus. It may be acute, subacute, or chronic with the major lesions characterized by inflammation and ulceration of the entire digestive tract. The disease was declared successfully eradicated worldwide in 2010.	MESH:D012301|UMLS:C0035637
MONDO:0001489	obsolete urticaria pigmentosa	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001489		
MONDO:0001480	malignant tumor of undescended testis	biolink:Disease	mondo	UMLS:C0153595|ICD9:186.0|COHD:4092524|DOID:12276|ICD10:C62.0|SCTID:188219004		malignant tumor of retained testis|malignant neoplasm of retained testis|malignant neoplasm of undescended testis	http://purl.obolibrary.org/obo/MONDO_0001480		DOID:12276|UMLS:C0153595|SNOMEDCT:188219004
MONDO:0001484	paranoid schizophrenia	biolink:Disease	mondo	NCIT:C35006|ICD9:295.31|MESH:D012563|ICD9:295.30|SCTID:31658008|ICD9:295.3|ICD10:F20.0|COHD:433450|DOID:1229|ICD9:295.32		chronic paranoid schizophrenia|paraphrenic schizophrenia|paranoid type schizophrenia subchronic state|paranoid type schizophrenia|paraphrenia - late	http://purl.obolibrary.org/obo/MONDO_0001484	A subtype of schizophrenia characterized by prominent delusions (typically persecutory or grandiose) or hallucinations in the context of a relative preservation of cognitive functioning and affect.	MESH:D012563|DOID:1229|NCIT:C35006|SNOMEDCT:31658008
MONDO:0001483	obsolete Crimean-Congo hemorrhagic fever	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001483		
MONDO:0025453	pneumonia, progressive interstitial, of sheep	biolink:Disease	mondo	MESH:D011021|UMLS:C0032306		progressive interstitial pneumonia of sheep|Maedi	http://purl.obolibrary.org/obo/MONDO_0025453	Chronic respiratory disease caused by the visna-maedi virus. It was formerly believed to be identical with jaagsiekte (pulmonary adenomatosis, ovine) but is now recognized as a separate entity.	MESH:D011021|UMLS:C0032306
MONDO:0001482	testicular leukemia	biolink:Disease	mondo	UMLS:C1336711|NCIT:C9277|DOID:12286		testicular leukemia	http://purl.obolibrary.org/obo/MONDO_0001482	A myeloid or more commonly lymphoid leukemia (acute or chronic) affecting the testis. Microscopically, there is interstitial infiltration of the testis by leukemic cells. Acute lymphoblastic leukemia with testicular involvement is not uncommon in boys. Sometimes (up to 10% of the cases), testicular involvement may be the initial manifestation of relapsed acute lymphoblastic leukemia. --03	DOID:12286|UMLS:C1336711|NCIT:C9277
MONDO:0001481	femoral vein thrombophlebitis	biolink:Disease	mondo	ICD10:I80.1|COHD:439314|UMLS:C0265066|ICD9:451.11|SCTID:1748006|DOID:12282		thrombophlebitis of deep femoral vein|thrombophlebitis of femoral vein|phlebitis and thrombophlebitis of femoral vein|phlebitis and thrombophlebitis of femoral vein (deep) (superficial)|femoral vein thrombophlebitis|thrombophlebitis of the femoral vein	http://purl.obolibrary.org/obo/MONDO_0001481	A thrombophlebitis that involves the femoral vein.	SNOMEDCT:1748006|DOID:12282|UMLS:C0265066
MONDO:0013477	hypertrophic cardiomyopathy 20	biolink:Disease	mondo	UMLS:C3151267|DOID:0110326|OMIM:613876		CMH20|cardiomyopathy, familial hypertrophic, type 20|cardiomyopathy, familial hypertrophic, 20|cardiomyopathy, familial hypertrophic, 20; CMH20|cardiomyopathy familial hypertrophic 20|NEXN hypertrophic cardiomyopathy|hypertrophic cardiomyopathy type 20|hypertrophic cardiomyopathy caused by mutation in NEXN	http://purl.obolibrary.org/obo/MONDO_0013477	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene.	http://identifiers.org/omim/613876|UMLS:C3151267|DOID:0110326
MONDO:0013478	PLIN1-related familial partial lipodystrophy	biolink:Disease	mondo	ICD10:E88.1|UMLS:C3151268|Orphanet:280356|GARD:0012601|OMIM:613877|DOID:0070205	ordo_disease	familial partial lipodystrophy associated with PLIN1 mutations|familial partial lipodystrophy type 4|lipodystrophy, familial partial, type 4; FPLD4|PLIN1-related FPLD|lipodystrophy, familial partial, type 4|FPLD4|lipodystrophy, familial partial, associated with Plin1 mutations|FPLD due to PLIN1 mutations	http://purl.obolibrary.org/obo/MONDO_0013478		http://identifiers.org/omim/613877|UMLS:C3151268|ORPHA:280356|DOID:0070205
MONDO:0013475	hypertrophic cardiomyopathy 18	biolink:Disease	mondo	OMIM:613874|UMLS:C3151265|DOID:0110324		cardiomyopathy, familial hypertrophic, 18; CMH18|PLN hypertrophic cardiomyopathy|hypertrophic cardiomyopathy type 18|cardiomyopathy, familial hypertrophic, type 18|cardiomyopathy, familial hypertrophic, 18|hypertrophic cardiomyopathy caused by mutation in PLN|cardiomyopathy familial hypertrophic 18|CMH18	http://purl.obolibrary.org/obo/MONDO_0013475	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PLN gene.	http://identifiers.org/omim/613874|UMLS:C3151265|DOID:0110324
HGNC:12015	TPO	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12015		
MONDO:0013476	hypertrophic cardiomyopathy 19	biolink:Disease	mondo	OMIM:613875|UMLS:C3151266|DOID:0110325		hypertrophic cardiomyopathy type 19|cardiomyopathy, familial hypertrophic, 19; CMH19|cardiomyopathy, familial hypertrophic, type 19|CALR3 hypertrophic cardiomyopathy|CMH19|cardiomyopathy, familial hypertrophic, 19|cardiomyopathy familial hypertrophic 19|hypertrophic cardiomyopathy caused by mutation in CALR3	http://purl.obolibrary.org/obo/MONDO_0013476	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CALR3 gene.	http://identifiers.org/omim/613875|UMLS:C3151266|DOID:0110325
HGNC:12014	TPMT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12014		
HGNC:14677	DEAF1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14677		
MONDO:0013479	dilated cardiomyopathy 1HH	biolink:Disease	mondo	UMLS:C3151293|OMIM:613881|DOID:0110448|ICD10:I42.0		familial isolated dilated cardiomyopathy caused by mutation in BAG3|dilated cardiomyopathy type 1HH|CMD1HH|cardiomyopathy, dilated, type 1Hh|cardiomyopathy, dilated, 1HH; CMD1HH|cardiomyopathy, dilated, 1HH|BAG3 familial isolated dilated cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0013479	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the BAG3 gene.	http://identifiers.org/omim/613881|UMLS:C3151293|DOID:0110448
MONDO:0013470	generalized epilepsy with febrile seizures plus, type 7	biolink:Disease	mondo	OMIM:613863|MESH:C567827|DOID:0111295		Gefs+, type 7|generalized epilepsy with febrile seizures plus caused by mutation in SCN9A|generalized epilepsy with febrile seizures plus, type 7|GEFSP7|febrile seizures, familial, 3B|generalized epilepsy with febrile seizures plus, type 7; GEFSP7|SCN9A generalized epilepsy with febrile seizures plus	http://purl.obolibrary.org/obo/MONDO_0013470	Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the SCN9A gene.	DOID:0111295|http://identifiers.org/omim/613863|MESH:C567827
HGNC:14673	FYCO1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14673		
HGNC:14674	PCDH15	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14674		
MONDO:0013473	Hirschsprung disease, cardiac defects, and autonomic dysfunction	biolink:Disease	mondo	MESH:C563939|OMIM:613870|UMLS:C3151237		HCAD|Hirschsprung disease, cardiac defects, and autonomic dysfunction|Hirschsprung disease, CARDIAC defects, and autonomic dysfunction; HCAD	http://purl.obolibrary.org/obo/MONDO_0013473		UMLS:C3151237|MESH:C563939|http://identifiers.org/omim/613870
MONDO:0013474	hypertrophic cardiomyopathy 17	biolink:Disease	mondo	UMLS:C3151264|OMIM:613873|DOID:0110323		cardiomyopathy, familial hypertrophic, 17; CMH17|cardiomyopathy, familial hypertrophic, type 17|hypertrophic cardiomyopathy type 17|JPH2 hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, 17|cardiomyopathy familial hypertrophic 17|hypertrophic cardiomyopathy caused by mutation in JPH2|CMH17	http://purl.obolibrary.org/obo/MONDO_0013474	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the JPH2 gene.	UMLS:C3151264|DOID:0110323|http://identifiers.org/omim/613873
HGNC:12012	TPM3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12012		
MONDO:0013471	autosomal recessive nonsyndromic deafness 61	biolink:Disease	mondo	DOID:0110513|UMLS:C3151230|OMIM:613865|ICD10:H90.3		autosomal recessive nonsyndromic deafness type 61|deafness, autosomal recessive type 61|autosomal recessive deafness 61|deafness, autosomal recessive 61|SLC26A5 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 61; DFNB61|DFNB61|autosomal recessive nonsyndromic deafness caused by mutation in SLC26A5	http://purl.obolibrary.org/obo/MONDO_0013471	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SLC26A5 gene.	DOID:0110513|http://identifiers.org/omim/613865|UMLS:C3151230
HGNC:12011	TPM2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12011		
MONDO:0013472	fatal infantile hypertonic myofibrillar myopathy	biolink:Disease	mondo	ICD10:G71.2|UMLS:C3151236|DOID:0080309|Orphanet:280553|OMIM:613869	ordo_disease	myofibrillar myopathy type 7|myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related|alpha-B crystalin-related fatal infantile hypertonic myofibrillar myopathy|MFM, fatal infantile hypertonic, alpha-B crystallin-related|fatal infantile hypertonic myofibrillar myopathy	http://purl.obolibrary.org/obo/MONDO_0013472		ORPHA:280553|http://identifiers.org/omim/613869|UMLS:C3151236|DOID:0080309
HGNC:12010	TPM1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12010		
MONDO:0001499	retroperitoneal lymphoma	biolink:Disease	mondo	NCIT:C7353|DOID:12339|UMLS:C1335779|SCTID:422853008		retroperitoneal space lymphoma|primary retroperitoneal lymphoma|lymphoma of retroperitoneal space|retroperitoneal lymphoma	http://purl.obolibrary.org/obo/MONDO_0001499	A lymphoma that involves the retroperitoneal space.	SNOMEDCT:422853008|NCIT:C7353|DOID:12339|UMLS:C1335779
UBERON:0010090	future falx cerebri	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010090	A developing anatomical structure that has the potential to develop into a falx cerebri.	
MONDO:0001498	varicocele	biolink:Disease	mondo	SCTID:46871008|DOID:12337|MESH:D014646|UMLS:C0042341|COHD:73801|ICD9:456.4|ICD10:I86.1		scrotum varicose disease|varicose disease of scrotum|scrotal varices	http://purl.obolibrary.org/obo/MONDO_0001498	A condition characterized by the dilated tortuous veins of the spermatic cord with a marked left-sided predominance. Adverse effect on male fertility occurs when varicocele leads to an increased scrotal (and testicular) temperature and reduced testicular volume.	UMLS:C0042341|DOID:12337|SNOMEDCT:46871008|MESH:D014646
UBERON:0010091	future hindbrain meninx	biolink:AnatomicalEntity	mondo			future hindbrain meninges	http://purl.obolibrary.org/obo/UBERON_0010091	A multi-tissue structure that has the potential to develop into a meninx of hindbrain.	
MONDO:0001497	male genital organ vascular disease	biolink:Disease	mondo	SCTID:198057005|ICD10:N50.1|ICD9:608.83|DOID:12335|UMLS:C0042374		vascular disorder of male genital organs	http://purl.obolibrary.org/obo/MONDO_0001497		UMLS:C0042374|SNOMEDCT:198057005|DOID:12335
MONDO:0001496	male genital organ stricture	biolink:Disease	mondo	ICD9:608.85|COHD:194999|DOID:12333|SCTID:198064007		stricture of male genital organs	http://purl.obolibrary.org/obo/MONDO_0001496		DOID:12333|SNOMEDCT:198064007
MONDO:0025445	Wieacker-Wolff syndrome (spectrum)	biolink:Disease	mondo	OMIMPS:314580			http://purl.obolibrary.org/obo/MONDO_0025445		
UBERON:0010092	future metencephalon	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010092	A developing anatomical structure that has the potential to develop into a metencephalon.	
MONDO:0025449	paratuberculosis	biolink:Disease	mondo	MESH:D010283|UMLS:C0030524		Paratuberculoses|disease, Johne|disease, Johne's|Johne disease|Johnes disease|Johne's disease	http://purl.obolibrary.org/obo/MONDO_0025449	A chronic gastroenteritis in ruminants caused by mycobacterium avium subspecies paratuberculosis.	UMLS:C0030524|MESH:D010283
NCBITaxon:11118	Coronaviridae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_11118		
MONDO:0001491	cough variant asthma	biolink:Disease	mondo	SCTID:409663006|ICD9:493.82|COHD:313236|DOID:12323|UMLS:C0694548|ICD10:J45.991			http://purl.obolibrary.org/obo/MONDO_0001491	An asthma that is characterized by chronic nonproductive cough without shortness of breath.	DOID:12323|SNOMEDCT:409663006|UMLS:C0694548
HGNC:26661	RNF168	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26661		
MONDO:0001490	corneal granular dystrophy	biolink:Disease	mondo	ICD10:H18.53|ICD9:371.53|UMLS:C0018179|NCIT:C34651|SCTID:45283008|DOID:12318		granular corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0001490	A stromal corneal dystrophy that is caused by mutation(s) in the TGFBI gene.	UMLS:C0018179|DOID:12318|SNOMEDCT:45283008|NCIT:C34651
UBERON:0010096	future myelencephalon	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010096	A developing anatomical structure that has the potential to develop into a myelencephalon.	
MONDO:0001495	hematocele of tunica vaginalis testis	biolink:Disease	mondo	SCTID:66259004|UMLS:C0018931|MESH:D006398|DOID:12332|UMLS:C1456400		male hematocele|hematocele	http://purl.obolibrary.org/obo/MONDO_0001495	Hemorrhage into a canal or cavity of the body, such as the space covered by the serous membrane (tunica vaginalis) around the testis leading to testicular hematocele or scrotal hematocele.	DOID:12332|MESH:D006398|SNOMEDCT:66259004|UMLS:C1456400|UMLS:C0018931
MONDO:0001494	obsolete transvestism	biolink:Disease	mondo	MESH:D014190|ICD9:302.3|UMLS:C0040774|ICD10:F65.1|NCIT:C94359|ICD10:F64.1|SCTID:472981000|DOID:1233		cross dresser|Transvestic fetishism|dual-role transvestism	http://purl.obolibrary.org/obo/MONDO_0001494	A disorder characterized by recurrent sexual urges, fantasies, or behaviors in a heterosexual male involving cross-dressing.	UMLS:C0040774|DOID:1233|MESH:D014190|NCIT:C94359|SNOMEDCT:472981000
MONDO:0001493	chronic pulmonary heart disease	biolink:Disease	mondo	DOID:12326|UMLS:C0238074|COHD:315831|ICD9:416.9|ICD9:416.8|NCIT:C34478|SCTID:87837008		Cor pulmonale	http://purl.obolibrary.org/obo/MONDO_0001493	Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure.	DOID:12326|UMLS:C0238074|SNOMEDCT:87837008|NCIT:C34478
MONDO:0001492	kyphoscoliotic heart disease	biolink:Disease	mondo	SCTID:45650007|DOID:12325|ICD10:I27.1|UMLS:C0152102|ICD9:416.1|COHD:317000			http://purl.obolibrary.org/obo/MONDO_0001492		DOID:12325|SNOMEDCT:45650007|UMLS:C0152102
MONDO:0013466	orofacial cleft 13	biolink:Disease	mondo	OMIM:613857|UMLS:C3151222|DOID:0080406		orofacial cleft 13|OFC13|orofacial cleft 13; OFC13	http://purl.obolibrary.org/obo/MONDO_0013466		http://identifiers.org/omim/613857|UMLS:C3151222|DOID:0080406
ENVO:03000111	snow mass	biolink:OntologyClass	mondo			snow accumulation|accumulation of snow	http://purl.obolibrary.org/obo/ENVO_03000111	A mass of snow.	
ENVO:03000110	cryoform	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_03000110	A geographic feature which is primarily composed of a continuous mass of snow and/or ice.	
MONDO:0013467	immunodeficiency due to ficolin3 deficiency	biolink:Disease	mondo	Orphanet:331190|OMIM:613860|ICD10:D84.1|SCTID:766705006|UMLS:C3151226	ordo_disease	lectin complement activation pathway, defect in, 3|Fcn3 deficiency|ficolin 3 deficiency|immunodeficiency due to ficolin 3 deficiency	http://purl.obolibrary.org/obo/MONDO_0013467		http://identifiers.org/omim/613860|SNOMEDCT:766705006|UMLS:C3151226|ORPHA:331190
MONDO:0013464	episodic ataxia type 5	biolink:Disease	mondo	Orphanet:211067|MESH:C566601|DOID:0050993|SCTID:718756005|OMIM:613855|ICD10:G11.8|UMLS:C1866039	ordo_disease	EA5|episodic ataxia, type 5|hereditary episodic ataxia caused by mutation in CACNB4|CACNB4 hereditary episodic ataxia|episodic ataxia, type 5; EA5	http://purl.obolibrary.org/obo/MONDO_0013464	Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours.	http://identifiers.org/omim/613855|MESH:C566601|SNOMEDCT:718756005|ORPHA:211067|DOID:0050993|UMLS:C1866039
MONDO:0013465	achromatopsia 4	biolink:Disease	mondo	OMIM:613856|UMLS:C1841721|DOID:0110010|MESH:C564206		achromatopsia 4|GNAT2 achromatopsia|achromatopsia type 4|ACHM4|achromatopsia caused by mutation in GNAT2|achromatopsia 4; ACHM4	http://purl.obolibrary.org/obo/MONDO_0013465	Any achromatopsia in which the cause of the disease is a mutation in the GNAT2 gene.	http://identifiers.org/omim/613856|DOID:0110010|MESH:C564206|UMLS:C1841721
MONDO:0013468	retinitis pigmentosa 59	biolink:Disease	mondo	ICD10:H35.5|OMIM:613861|UMLS:C3151227|DOID:0110352		retinitis pigmentosa type 59|DHDDS retinitis pigmentosa|retinitis pigmentosa 59; RP59|retinitis pigmentosa caused by mutation in DHDDS|RP59|congenital disorder of glycosylation, type Ibb|retinitis pigmentosa 59	http://purl.obolibrary.org/obo/MONDO_0013468	Any retinitis pigmentosa in which the cause of the disease is a mutation in the DHDDS gene.	http://identifiers.org/omim/613861|UMLS:C3151227|DOID:0110352
MONDO:0013469	retinitis pigmentosa 38	biolink:Disease	mondo	ICD10:H35.5|OMIM:613862|DOID:0110367|UMLS:C3151228		RP38|MERTK retinitis pigmentosa|retinitis pigmentosa type 38|retinitis pigmentosa 38; RP38|retinitis pigmentosa caused by mutation in MERTK|Rod-cone dystrophy, childhood-onset|retinitis pigmentosa 38	http://purl.obolibrary.org/obo/MONDO_0013469	Any retinitis pigmentosa in which the cause of the disease is a mutation in the MERTK gene.	http://identifiers.org/omim/613862|UMLS:C3151228|DOID:0110367
HGNC:12029	TRAC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12029		
NCBITaxon:37727	Talaromyces marneffei	organism taxon	mondo	GC_ID:1		Penicillium marneffei	http://purl.obolibrary.org/obo/NCBITaxon_37727		
MONDO:0013462	fucosyltransferase 6 deficiency	biolink:Disease	mondo	OMIM:613852|UMLS:C3151219		fucosyltransferase 6 deficiency	http://purl.obolibrary.org/obo/MONDO_0013462		http://identifiers.org/omim/613852|UMLS:C3151219
MONDO:0013463	dextro-looped transposition of the great arteries 3	biolink:Disease	mondo	ICD10:Q20.3|DOID:0060772|UMLS:C3151221|OMIM:613854		transposition of the great arteries, dextro-looped 3|DTGA3|congenital heart defects, multiple types, 6|GDF1 dextro-looped transposition of the great arteries|CHTD6|transposition of the great arteries, dextro-looped type 3|transposition of the great arteries, dextro-looped 3, formerly|congenital heart defects, multiple types, 6; CHTD6|dextro-looped transposition of the great arteries type 3|transposition of the great arteries, dextro-looped 3; DTGA3|dextro-looped transposition of the great arteries caused by mutation in GDF1	http://purl.obolibrary.org/obo/MONDO_0013463	Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the GDF1 gene.	http://identifiers.org/omim/613854|UMLS:C3151221|DOID:0060772
MONDO:0013460	osteogenesis imperfecta type 12	biolink:Disease	mondo	DOID:0110348|UMLS:C3151433|OMIM:613849|ICD10:Q78.0		SP7 osteogenesis imperfecta|osteogenesis imperfecta, type XII; OI12|osteogenesis imperfecta caused by mutation in SP7|osteogenesis imperfecta, type XII|OI, type 12|osteogenesis imperfecta, type 12|OI12|osteogenesis imperfecta type XII	http://purl.obolibrary.org/obo/MONDO_0013460	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SP7 gene.	UMLS:C3151433|DOID:0110348|http://identifiers.org/omim/613849
MONDO:0013461	inosine triphosphatase deficiency	biolink:Disease	mondo	NCIT:C129974|OMIM:613850|SCTID:238011005|ICD9:277.2|MESH:C564127|UMLS:C0342800		inosine triphosphatase deficiency|inosine triphosphate pyrophosphohydrolase deficiency	http://purl.obolibrary.org/obo/MONDO_0013461	An inherited condition caused by mutation(s) in the ITPA gene, encoding inosine triphosphate pyrophosphatase. It is characterized by elevated concentrations of inosine triphosphate in erythrocytes.	http://identifiers.org/omim/613850|NCIT:C129974|MESH:C564127|UMLS:C0342800|SNOMEDCT:238011005
MONDO:0001466	punctate epithelial keratoconjunctivitis	biolink:Disease	mondo	DOID:12197|ICD9:370.21|SCTID:416069001|ICD10:H16.14|UMLS:C0259799|COHD:375265		Thygeson's superficial punctate keratitis|Thygeson superficial punctate keratitis|punctate keratitis	http://purl.obolibrary.org/obo/MONDO_0001466		DOID:12197|UMLS:C0259799|SNOMEDCT:416069001
MONDO:0001465	superficial keratitis	biolink:Disease	mondo	DOID:12196|COHD:374643|SCTID:27019000|ICD10:H16.10|ICD9:370.20|UMLS:C0155074			http://purl.obolibrary.org/obo/MONDO_0001465		DOID:12196|UMLS:C0155074|SNOMEDCT:27019000
MONDO:0001464	sigmoid colon cancer	biolink:Disease	mondo	DOID:12192|UMLS:C0153436|ICD10:C18.7|ICD9:153.3|SCTID:363410008		malignant neoplasm of sigmoid colon|malignant sigmoid colon neoplasm|malignant tumor of sigmoid colon|cancer of sigmoid colon|Ca sigmoid colon|sigmoid colon cancer	http://purl.obolibrary.org/obo/MONDO_0001464	A malignant neoplasm involving the sigmoid colon.	SNOMEDCT:363410008|DOID:12192|UMLS:C0153436
MONDO:0001463	splenic flexure cancer	biolink:Disease	mondo	SCTID:363413005|ICD9:153.7|ICD10:C18.5|DOID:12191|UMLS:C0153440		malignant neoplasm of splenic flexure of colon|splenic flexure of colon cancer|malignant splenic flexure of colon neoplasm|Ca splenic flexure - colon|malignant tumor of splenic flexure|malignant neoplasm of splenic flexure|cancer of splenic flexure of colon	http://purl.obolibrary.org/obo/MONDO_0001463	A malignant neoplasm involving the splenic flexure of colon.	SNOMEDCT:363413005|DOID:12191|UMLS:C0153440
UBERON:0010083	future dermis	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010083	Mesenchyme that has the potential to develop into a dermis.	
MONDO:0001469	cascade stomach	biolink:Disease	mondo	DOID:12234|ICD10:K31.2|ICD9:537.6|SCTID:54051005|UMLS:C0267183		hourglass stricture or stenosis of stomach	http://purl.obolibrary.org/obo/MONDO_0001469		UMLS:C0267183|SNOMEDCT:54051005|DOID:12234
UBERON:0010084	future diaphragm	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010084	A structure that will develop into a diaphragm.	
MONDO:0001468	synovial plica syndrome	biolink:Disease	mondo	ICD10:M67.5|ICD9:727.9|SCTID:240171001|UMLS:C0410485|DOID:12225|ICD9:727.83		plica syndrome|synovial plica of knee	http://purl.obolibrary.org/obo/MONDO_0001468		UMLS:C0410485|DOID:12225|SNOMEDCT:240171001
UBERON:0010081	future common hepatic duct	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010081	An extrahepatic bile duct that has the potential to develop into a common hepatic duct.	
UBERON:0009097	gravid organism	biolink:AnatomicalEntity	mondo			pregnant stage|gravid|pregnant adult|pregnant organism|pregnant adult stage	http://purl.obolibrary.org/obo/UBERON_0009097	An organism containing a developing embryo, fetus, or unborn offspring within the body.	
MONDO:0001467	obsolete specific bursitis often of occupational origin	biolink:Disease	mondo	UMLS:C0158332|SCTID:42812006|COHD:137652|ICD9:727.2|DOID:12223		specific bursitides often of occupational origin	http://purl.obolibrary.org/obo/MONDO_0001467		UMLS:C0158332|DOID:12223|SNOMEDCT:42812006
MONDO:0001462	descending colon cancer	biolink:Disease	mondo	ICD10:C18.6|DOID:12190|ICD9:153.2|UMLS:C0153435|SCTID:363409003		malignant neoplasm of descending colon|descending colon cancer|malignant tumor of descending colon|malignant neoplasm of left colon|cancer of descending colon|malignant descending colon neoplasm|Ca descending colon	http://purl.obolibrary.org/obo/MONDO_0001462	A malignant neoplasm involving the descending colon.	SNOMEDCT:363409003|DOID:12190|UMLS:C0153435
RO:0009501	realized in response to	biolink:OntologyClass	mondo	RO:0009501		triggered by process	http://purl.obolibrary.org/obo/RO_0009501	r 'realized in response to' s iff, r is a realizable (e.g. a plant trait such as responsivity to drought), s is an environmental stimulus (a process), and s directly causes the realization of r.	
MONDO:0001461	tinea corporis	biolink:Disease	mondo	UMLS:C0546826|ICD10:B35.4|SCTID:84849002|COHD:4224968|ICD9:110.5|DOID:12179|UMLS:C0040252		dermatophytosis of the trunk|dermatophytosis of the body	http://purl.obolibrary.org/obo/MONDO_0001461	A dermatophyte disease of the glabrous skin, excluding the scalp, beard, face, hands, feet, and groin.	SNOMEDCT:84849002|UMLS:C0040252|DOID:12179|UMLS:C0546826
MONDO:0001460	dyshormonogenic goiter	biolink:Disease	mondo	DOID:12175|COHD:136933|UMLS:C0152077|SCTID:190304001|ICD9:246.1|ICD10:E07.1			http://purl.obolibrary.org/obo/MONDO_0001460		DOID:12175|SNOMEDCT:190304001|UMLS:C0152077
MONDO:0025431	keratoconjunctivitis, infectious	biolink:Disease	mondo	MESH:D007639|UMLS:C0022576		Keratoconjunctivitides, infectious|infectious keratoconjunctivitis|infectious Keratoconjunctivitides	http://purl.obolibrary.org/obo/MONDO_0025431	Infectious diseases of cattle, sheep, and goats, characterized by blepharospasm, lacrimation, conjunctivitis, and varying degrees of corneal opacity and ulceration. In cattle the causative agent is moraxella (moraxella) bovis; in sheep, mycoplasma; rickettsia; chlamydia; or acholeplasma; in goats, rickettsia.	MESH:D007639|UMLS:C0022576
MONDO:0013455	hypertrophic cardiomyopathy 16	biolink:Disease	mondo	OMIM:613838|UMLS:C3151204|DOID:0110322		cardiomyopathy, familial hypertrophic, type 16|hypertrophic cardiomyopathy caused by mutation in MYOZ2|cardiomyopathy, familial hypertrophic, 16|CMH16|hypertrophic cardiomyopathy type 16|cardiomyopathy familial hypertrophic 16|cardiomyopathy, familial hypertrophic, 16; CMH16|MYOZ2 hypertrophic cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0013455	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYOZ2 gene.	http://identifiers.org/omim/613838|UMLS:C3151204|DOID:0110322
MONDO:0013456	constitutional megaloblastic anemia with severe neurologic disease	biolink:Disease	mondo	SCTID:124178006|Orphanet:319651|OMIM:613839|ICD10:D52.8|MESH:C565095|GARD:0011000	ordo_disease	megaloblastic anemia due to dihydrofolate reductase deficiency|dihydrofolate reductase deficiency|DHFR deficiency	http://purl.obolibrary.org/obo/MONDO_0013456		ORPHA:319651|http://identifiers.org/omim/613839|MESH:C565095|SNOMEDCT:124178006
MONDO:0013453	Leber congenital amaurosis 8	biolink:Disease	mondo	OMIM:613835|UMLS:C3151202|GARD:0010881|ICD10:H35.5|DOID:0110079	gard_rare	LCA8|Leber congenital amaurosis type 8|CRB1 Leber congenital amaurosis|Leber congenital amaurosis 8; LCA8|Leber congenital amaurosis caused by mutation in CRB1|Leber congenital amaurosis 8	http://purl.obolibrary.org/obo/MONDO_0013453	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRB1 gene.	http://identifiers.org/omim/613835|UMLS:C3151202|DOID:0110079
MONDO:0013454	Leber congenital amaurosis 11	biolink:Disease	mondo	GARD:0010488|ICD10:H35.5|DOID:0110216|UMLS:C1840284|MESH:C564140|OMIM:613837|HGNC:6052	gard_rare	LCA11|Leber congenital amaurosis 11; LCA11|amaurosis congenita of Leber, type 11|Leber congenital amaurosis 11|Leber congenital amaurosis caused by mutation in IMPDH1|IMPDH1 Leber congenital amaurosis|Leber congenital amaurosis type 11	http://purl.obolibrary.org/obo/MONDO_0013454	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the IMPDH1 gene.	http://identifiers.org/omim/613837|DOID:0110216|MESH:C564140|UMLS:C1840284
MONDO:0013459	osteogenesis imperfecta type 10	biolink:Disease	mondo	OMIM:613848|ICD10:Q78.0|GARD:0012874|DOID:0110346|UMLS:C3151211		OI type 10|SERPINH1 osteogenesis imperfecta|OI10|OI type X|osteogenesis imperfecta, type X; OI10|osteogenesis imperfecta caused by mutation in SERPINH1|osteogenesis imperfecta, type X|OI, type 10|osteogenesis imperfecta, type 10|osteogenesis imperfecta type X	http://purl.obolibrary.org/obo/MONDO_0013459	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINH1 gene.	http://identifiers.org/omim/613848|UMLS:C3151211|DOID:0110346
MONDO:0013457	Leber congenital amaurosis 15	biolink:Disease	mondo	UMLS:C3151206|GARD:0010884|OMIM:613843|ICD10:H35.5|DOID:0110189	gard_rare	Leber congenital amaurosis type 15|retinitis pigmentosa, juvenile, Tulp1-related|Leber congenital amaurosis caused by mutation in TULP1|LCA15|TULP1 Leber congenital amaurosis|Leber congenital amaurosis 15|Leber congenital amaurosis 15; LCA15	http://purl.obolibrary.org/obo/MONDO_0013457	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the TULP1 gene.	http://identifiers.org/omim/613843|UMLS:C3151206|DOID:0110189
MONDO:0013458	hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome	biolink:Disease	mondo	Orphanet:363694|UMLS:C3151209|ICD10:N15.8|OMIM:613845	ordo_disease	hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome|Hupra syndrome|hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome; HUPRAS|HUPRA syndrome|HUPRAS	http://purl.obolibrary.org/obo/MONDO_0013458		http://identifiers.org/omim/613845|ORPHA:363694|UMLS:C3151209
UBERON:0009098	gravid uterus	biolink:AnatomicalEntity	mondo			womb	http://purl.obolibrary.org/obo/UBERON_0009098	The uterus in pregnancy	
MONDO:0013451	obsolete progressive myoclonic epilepsy type 5	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0013451		
MONDO:0013452	multisystemic smooth muscle dysfunction syndrome	biolink:Disease	mondo	GARD:0012811|UMLS:C3151201|Orphanet:404463|ICD10:I73.8|OMIM:613834	ordo_disease|gard_rare	multisystemic smooth muscle dysfunction syndrome|congenital mydriasis, patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy|mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy	http://purl.obolibrary.org/obo/MONDO_0013452	Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypo peristalsis). A certain mutation in the ACTA2 gene has been shown to cause this condition insome individuals.	http://identifiers.org/omim/613834|UMLS:C3151201|ORPHA:404463
MONDO:0013450	congenital stationary night blindness 1D	biolink:Disease	mondo	DOID:0110868|UMLS:C3151193|OMIM:613830		Csnb, complete, autosomal recessive|night blindness, congenital stationary, type 1D; CSNB1D|congenital stationary night blindness type 1D|night blindness, congenital stationary, type 1D|CSNB1D|SLC24A1 congenital stationary night blindness|congenital stationary night blindness 1D autosomal recessive|congenital stationary night blindness caused by mutation in SLC24A1	http://purl.obolibrary.org/obo/MONDO_0013450	Any congenital stationary night blindness in which the cause of the disease is a mutation in the SLC24A1 gene.	http://identifiers.org/omim/613830|UMLS:C3151193|DOID:0110868
HP:0009145	Abnormal cerebral artery morphology	biolink:PhenotypicFeature	mondo	UMLS:C4021520		Abnormality of cerebral artery|Abnormality of the cerebral arteries	http://purl.obolibrary.org/obo/HP_0009145	Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery.	
MONDO:0001477	obsolete aniridia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001477		
MONDO:0001476	coloboma	biolink:Disease	mondo	Orphanet:194|ICD9:743.49|NCIT:C98877|ICD10:Q13.0|DOID:12270|SCTID:93390002|MESH:D003103	ordo_group_of_disorders	coloboma of eye|ocular coloboma|coloboma of the eye|congenital ocular coloboma|coloboma of macula	http://purl.obolibrary.org/obo/MONDO_0001476	An abnormality in which a part of a structure in one or both eyes is missing.	ORPHA:194|UMLS:C0009363|DOID:12270|NCIT:C98877|MESH:D003103|SNOMEDCT:93390002
MONDO:0001475	neutropenia	biolink:Disease	mondo	DOID:1227|UMLS:C0027947|ICD9:288.0|ICD10:D70.9|ICD9:288.00|MESH:D009503|ICD10:D70|SCTID:303011007		neutropenic disorder	http://purl.obolibrary.org/obo/MONDO_0001475	A decrease in the number of neutrophils found in the blood.	SNOMEDCT:303011007|MESH:D009503|UMLS:C0027947|DOID:1227
MONDO:0001474	chronic salpingo-oophoritis	biolink:Disease	mondo	ICD10:N70.13|ICD10:N70.1|COHD:198201|SCTID:198142001|ICD9:614.1|DOID:12265|UMLS:C0156328		chronic salpingo-oophoritis|chronic salpingitis/oophoritis|salpingo-oophoritis, chronic|chronic salpingitis and oophoritis	http://purl.obolibrary.org/obo/MONDO_0001474	Chronic form of salpingo-oophoritis.	UMLS:C0156328|DOID:12265|SNOMEDCT:198142001
HP:0012795	Abnormality of the optic disc	biolink:PhenotypicFeature	mondo	UMLS:C3808249			http://purl.obolibrary.org/obo/HP_0012795	A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination.	
MONDO:0025425	hepatitis, infectious canine	biolink:Disease	mondo	MESH:D006522		infectious canine Hepatitis|infectious canine Hepatitides|Hepatitides, canine infectious|Hepatitis, canine infectious|Hepatitides, infectious canine|infectious Hepatitis, canine|canine Hepatitis, infectious|infectious Hepatitides, canine|canine Hepatitides, infectious|canine infectious Hepatitis|canine infectious Hepatitides	http://purl.obolibrary.org/obo/MONDO_0025425	A contagious disease caused by canine adenovirus (adenoviruses, canine) infecting the liver, the eye, the kidney, and other organs in dogs, other canids, and bears. Symptoms include fever; edema; vomiting; and diarrhea.	MESH:D006522
MONDO:0001479	cutaneous diphtheria	biolink:Disease	mondo	SCTID:18901009|UMLS:C0012555|DOID:12275|ICD9:032.85|EFO:1000683|NCIT:C34544|ICD10:A36.3		cutaneous diphtheria	http://purl.obolibrary.org/obo/MONDO_0001479	A usually mild form of diphtheria characterized by infection of the skin by corynebacterium diphtheria and the resulting formation of a chronic, shallow ulcer that is sometimes bordered or followed by a bulla.	NCIT:C34544|UMLS:C0012555|SNOMEDCT:18901009|DOID:12275
UBERON:0010070	intermediate layer of tympanic membrane	biolink:AnatomicalEntity	mondo			fibrous layer of tympanic membrane|intermediate fibrous layer of tympanic membrane|fibrous stratum of tympanic membrane|connective tissue layer of tympanic membrane|tympanic endothelium	http://purl.obolibrary.org/obo/UBERON_0010070	The intermediate fibrous layer of the tympanic membrane.	
MONDO:0001478	anisometropia (disease)	biolink:Disease	mondo	DOID:12273|COHD:375547|HP:0012803|ICD9:367.31|UMLS:C0003081|MESH:D015858|CSP:1116-1678|SCTID:3289004|ICD10:H52.31		anisometropia	http://purl.obolibrary.org/obo/MONDO_0001478	A condition of an inequality of refractive power of the two eyes.	MESH:D015858|DOID:12273|SNOMEDCT:3289004|UMLS:C0003081
HGNC:26648	BBS12	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26648		
UBERON:0010071	layer of tympanic membrane	biolink:AnatomicalEntity	mondo			tympanic membrane layer	http://purl.obolibrary.org/obo/UBERON_0010071		
UBERON:0010077	cuboidal epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010077	An epithelium consisting of cuboidal epithelial cells.	
UBERON:0010074	chromaffin system	biolink:AnatomicalEntity	mondo			argentaffin system|chromaffin tissue	http://purl.obolibrary.org/obo/UBERON_0010074	Organ system subdivision that consists primarily of chromaffin cells and their supporting structures.	
MONDO:0013439	congenital bile acid synthesis defect 3	biolink:Disease	mondo	UMLS:C4304715|OMIM:613812|UMLS:C3151147|Orphanet:79302|MESH:C566340|DOID:0111070|SCTID:719454003|ICD10:K76.8	ordo_disease	CBAS3|bile acid synthesis defect, congenital, 3; CBAS3|oxysterol 7-alpha-hydroxylase deficiency|congenital bile acid synthesis defect caused by mutation in CYP7B1|congenital bile acid synthesis defect type 3|bile acid synthesis defect, congenital, type 3|bile acid synthesis defect, congenital, 3|CYP7B1 congenital bile acid synthesis defect|BASD3	http://purl.obolibrary.org/obo/MONDO_0013439	Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease.	http://identifiers.org/omim/613812|MESH:C566340|UMLS:C3151147|DOID:0111070|UMLS:C4304715|ORPHA:79302|SNOMEDCT:719454003
UBERON:0010075	sacral neural crest	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010075	One of the 5 distinct and partially overlapping functional domains of the premigratory neural crest. The vagal and sacral neural crest cells develop into the ganglia of the enteric nervous system, also known as the parasympathetic ganglia.	
MONDO:0001473	medulloadrenal hyperfunction	biolink:Disease	mondo	ICD10:E27.5|COHD:440972|SCTID:111565003|DOID:12257|UMLS:C0154206|ICD9:255.6			http://purl.obolibrary.org/obo/MONDO_0001473		DOID:12257|UMLS:C0154206|SNOMEDCT:111565003
CHEBI:64577	flour treatment agent	biolink:ChemicalSubstance	mondo			improving agent|improving agents|flour treatment agent|dough improvers|dough improver	http://purl.obolibrary.org/obo/CHEBI_64577	A food additive which is added to flour or dough to improve baking quality and/or colour.	
NCBITaxon:543769	Rhizaria	organism taxon	mondo	GC_ID:1|PMID:30257078			http://purl.obolibrary.org/obo/NCBITaxon_543769		
MONDO:0001472	testicular lymphoma	biolink:Disease	mondo	UMLS:C0349644|NCIT:C6810|SCTID:277664004|ICD9:186.9|ONCOTREE:TLYM|DOID:12253		testicular lymphoma|primary testicular lymphoma|TLYM|lymphoma of testis|malignant lymphoma of testis|lymphoma of the testis	http://purl.obolibrary.org/obo/MONDO_0001472	A lymphoma that arises from the testis and is not associated with lymphoma in another anatomic site.	SNOMEDCT:277664004|DOID:12253|UMLS:C0349644|NCIT:C6810
MONDO:0025420	gastroenteritis, transmissible, of swine	biolink:Disease	mondo	MESH:D005761|UMLS:C0017162		porcine Gastroenteritides, transmissible|transmissible Gastroenteritides, swine|Gastroenteritides, porcine transmissible|Gastroenteritides, transmissible porcine|gastroenteritis, transmissible porcine|porcine gastroenteritis, transmissible|transmissible gastroenteritis, swine|gastroenteritis, porcine transmissible|porcine transmissible gastroenteritis|transmissible porcine gastroenteritis|transmissible porcine Gastroenteritides|Gastroenteritides, swine transmissible|porcine transmissible Gastroenteritides|gastroenteritis, swine transmissible|transmissible gastroenteritis of swine|swine transmissible gastroenteritis|swine transmissible Gastroenteritides|transmissible Gastroenteritides, porcine|transmissible gastroenteritis, porcine|gastroenteritis, transmissible, porcine	http://purl.obolibrary.org/obo/MONDO_0025420	A condition of chronic gastroenteritis in adult pigs and fatal gastroenteritis in piglets caused by a coronavirus.	UMLS:C0017162|MESH:D005761
MONDO:0001471	histoplasmosis meningitis	biolink:Disease	mondo	ICD9:115.91|DOID:12246		Histoplasma capsulatum caused infectious meningitis|histoplasmosis with meningitis|Histoplasma capsulatum infectious meningitis	http://purl.obolibrary.org/obo/MONDO_0001471	An infectious meningitis caused by infection with Histoplasma capsulatum.	DOID:12246
MONDO:0001470	anal margin squamous cell carcinoma	biolink:Disease	mondo	NCIT:C6925|DOID:12239|SCTID:255084004|ICD10:C44.520|UMLS:C1412037|ICD9:173.5		anal margin squamous cell carcinoma|squamous cell carcinoma of the anal margin|perianal skin squamous cell carcinoma|squamous cell carcinoma of anal margin	http://purl.obolibrary.org/obo/MONDO_0001470	A squamous cell carcinoma arising from the perianal skin.	DOID:12239|SNOMEDCT:255084004|NCIT:C6925|UMLS:C1412037
MONDO:0013444	nephronophthisis 9	biolink:Disease	mondo	DOID:0111120|OMIM:613824|UMLS:C3151188		nephronophthisis 9; NPHP9|nephronophthisis type 9|NEK8 nephronophthisis (disease)|NPHP9|nephronophthisis (disease) caused by mutation in NEK8|nephronophthisis 9	http://purl.obolibrary.org/obo/MONDO_0013444	Any nephronophthisis in which the cause of the disease is a mutation in the NEK8 gene.	http://identifiers.org/omim/613824|UMLS:C3151188|DOID:0111120
MONDO:0013445	complement component 9 deficiency	biolink:Disease	mondo	DOID:0060303|OMIM:613825|MESH:C565165|ICD10:D84.1|UMLS:C3151189		C9 classic complement early component deficiency|C9 deficiency|complement component 9 deficiency|complement component 9 deficiency; C9D|C9D|classic complement early component deficiency caused by mutation in C9	http://purl.obolibrary.org/obo/MONDO_0013445	Any classic complement early component deficiency in which the cause of the disease is a mutation in the C9 gene.	http://identifiers.org/omim/613825|UMLS:C3151189|MESH:C565165|DOID:0060303
MONDO:0013442	nephronophthisis 12	biolink:Disease	mondo	OMIM:613820|DOID:0111119|UMLS:C3151186	clingen	nephronophthisis (disease) caused by mutation in TTC21B|TTC21B nephronophthisis (disease)|NPHP12|nephronophthisis type 12|nephronophthisis 12; NPHP12|Joubert syndrome 11|nephronophthisis 12	http://purl.obolibrary.org/obo/MONDO_0013442	Any nephronophthisis in which the cause of the disease is a mutation in the TTC21B gene.	http://identifiers.org/omim/613820|UMLS:C3151186|DOID:0111119
MONDO:0013443	Seckel syndrome 5	biolink:Disease	mondo	OMIM:613823|DOID:0070012|UMLS:C3151187		Seckel syndrome 5; SCKL5|SCKL5|CEP152 Seckel syndrome|Seckel syndrome type 5|Seckel syndrome caused by mutation in CEP152|Seckel syndrome 5	http://purl.obolibrary.org/obo/MONDO_0013443	Any Seckel syndrome in which the cause of the disease is a mutation in the CEP152 gene.	http://identifiers.org/omim/613823|UMLS:C3151187|DOID:0070012
MONDO:0013448	GEFSP8	biolink:Disease	mondo	OMIM:613828|DOID:0111299|UMLS:C3151191		GEFSP8|Gefs+, type 8|generalized epilepsy with febrile seizures plus, type 8|generalized epilepsy with febrile seizures plus, type 8; GEFSP8	http://purl.obolibrary.org/obo/MONDO_0013448		UMLS:C3151191|http://identifiers.org/omim/613828|DOID:0111299
MONDO:0013449	Leber congenital amaurosis 7	biolink:Disease	mondo	DOID:0110333|OMIM:613829|UMLS:C3151192|GARD:0010880|ICD10:H35.5	gard_rare	Leber congenital amaurosis type 7|LCA7|Leber congenital amaurosis 7; LCA7|Leber congenital amaurosis 7|CRX Leber congenital amaurosis|Leber congenital amaurosis caused by mutation in CRX	http://purl.obolibrary.org/obo/MONDO_0013449	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRX gene.	http://identifiers.org/omim/613829|UMLS:C3151192|DOID:0110333
HGNC:12009	TPI1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12009		
MONDO:0013446	Leber congenital amaurosis 6	biolink:Disease	mondo	GARD:0010490|ICD10:H35.5|MESH:C565327|HGNC:13436|DOID:0110329|OMIM:613826	gard_rare	Leber congenital amaurosis caused by mutation in RPGRIP1|Leber congenital amaurosis 6; LCA6|Leber congenital amaurosis 6|Leber congenital amaurosis type 6|LCA6|RPGRIP1 Leber congenital amaurosis	http://purl.obolibrary.org/obo/MONDO_0013446	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPGRIP1 gene.	http://identifiers.org/omim/613826|MESH:C565327|DOID:0110329
MONDO:0013447	retinitis pigmentosa 48	biolink:Disease	mondo	ICD10:H35.5|DOID:0110382|OMIM:613827|UMLS:C3151190		GUCA1B retinitis pigmentosa|retinitis pigmentosa 48; RP48|RP48|retinitis pigmentosa caused by mutation in GUCA1B|retinitis pigmentosa type 48|retinitis pigmentosa 48	http://purl.obolibrary.org/obo/MONDO_0013447	Any retinitis pigmentosa in which the cause of the disease is a mutation in the GUCA1B gene.	http://identifiers.org/omim/613827|UMLS:C3151190|DOID:0110382
MONDO:0025419	furunculosis	biolink:Disease	mondo	NCIT:C34629|MESH:D005667		boils|Furuncles|Furunculoses|furuncle	http://purl.obolibrary.org/obo/MONDO_0025419	A persistent skin infection marked by the presence of furuncles, often chronic and recurrent. In humans, the causative agent is various species of staphylococcus. In salmonid fish (salmonids), the pathogen is aeromonas salmonicida.	MESH:D005667|NCIT:C34629
NCBITaxon:37705		organism taxon	mondo				http://purl.obolibrary.org/obo/NCBITaxon_37705		
MONDO:0013440	autosomal recessive limb-girdle muscular dystrophy type 2P	biolink:Disease	mondo	Orphanet:280333|OMIM:613818|DOID:0110293|UMLS:C3151184|ICD10:G71.0|GARD:0012541	ordo_disease	limb-girdle muscular dystrophy type 2P|muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related|MDDGC9|muscular dystrophy-dystroglycanopathy (limb-girdle) type C9|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9|LGMD2P|DAG1 autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9; MDDGC9|autosomal recessive limb-girdle muscular dystrophy caused by mutation in DAG1|muscular dystrophy-dystroglycanopathy, limb-girdle, Dag1-related|muscular dystrophy, limb-girdle, type 2P	http://purl.obolibrary.org/obo/MONDO_0013440	Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.	http://identifiers.org/omim/613818|UMLS:C3151184|DOID:0110293|ORPHA:280333
MONDO:0013441	asphyxiating thoracic dystrophy 4	biolink:Disease	mondo	DOID:0110088|OMIM:613819|UMLS:C3151185|ICD10:Q77.2		short-rib thoracic dysplasia 4 with or without polydactyly|SRTD4|short-rib thoracic dysplasia 4 with or without polydactyly; SRTD4|ATD4|asphyxiating thoracic dystrophy type 4|asphyxiating thoracic dystrophy 4	http://purl.obolibrary.org/obo/MONDO_0013441	An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24.	UMLS:C3151185|http://identifiers.org/omim/613819|DOID:0110088
NCBITaxon:11146	Porcine respiratory coronavirus	organism taxon	mondo	GC_ID:1		porcine respiratory coronavirus PRCV|porcine respiratory virus	http://purl.obolibrary.org/obo/NCBITaxon_11146		
ENVO:01000355	vegetation layer	biolink:OntologyClass	mondo			forest layer|woodland layer|forest stratum|woodland stratum	http://purl.obolibrary.org/obo/ENVO_01000355	A layer which is determined by a form of vegetation.	
NCBITaxon:11149	Transmissible gastroenteritis virus	organism taxon	mondo	GC_ID:1		Porcine transmissable gastroenteritis coronavirus|transmissible gastroenteritis virus TGEV|transmissible gastroenteritis coronavirus|Porcine transmissible gastroenteritis coronavirus|TGEV|porcine transmissible gastroenteritis virus	http://purl.obolibrary.org/obo/NCBITaxon_11149		
MONDO:0025491	feline infectious peritonitis	biolink:Disease	mondo	MESH:D016766|UMLS:C0085306		feline infectious peritonitides|peritonitis, infectious, feline|infectious peritonitis, feline|infectious peritonitides, feline|peritonitis, feline infectious|FIP	http://purl.obolibrary.org/obo/MONDO_0025491	Common coronavirus infection of cats caused by the feline infectious peritonitis virus (coronavirus, feline). The disease is characterized by a long incubation period, fever, depression, loss of appetite, wasting, and progressive abdominal enlargement. Infection of cells of the monocyte-macrophage lineage appears to be essential in FIP pathogenesis.	MESH:D016766|UMLS:C0085306
MONDO:0025494	porcine reproductive and respiratory syndrome	biolink:Disease	mondo	UMLS:C0376538|MESH:D019318		porcine epidemic abortion and respiratory syndrome|pig disease, blue-eared|swine infertility and respiratory syndrome|swine disease, mystery|PRRS|blue-eared pig disease|blue eared pig disease|mystery swine disease	http://purl.obolibrary.org/obo/MONDO_0025494	A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by porcine respiratory and reproductive syndrome virus. (Radostits et al., Veterinary Medicine, 8th ed, p1048)	UMLS:C0376538|MESH:D019318
HGNC:14637	ABCA12	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14637		
HGNC:14630	CRELD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14630		
HGNC:14631	ADAMTSL2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14631		
MONDO:0025488	leukemia, feline	biolink:Disease	mondo	MESH:D016582|UMLS:C0085164		Feline leukemia|leukemias, Feline|Feline leukemias	http://purl.obolibrary.org/obo/MONDO_0025488	A neoplastic disease of cats frequently associated with feline leukemia virus infection.	MESH:D016582|UMLS:C0085164
NCBITaxon:11155	Torovirus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_11155		
MONDO:0025487	murine acquired immunodeficiency syndrome	biolink:Disease	mondo	MESH:D016183		murine acquired immuno deficiency syndrome|MAIDS|murine acquired immune deficiency syndrome|murine AIDSs|murine AIDS|AIDS, murine|murine acquired immuno-deficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0025487	Acquired defect of cellular immunity that occurs in mice infected with mouse leukemia viruses (Mulv). The syndrome shows striking similarities with human aids and is characterized by lymphadenopathy, profound immunosuppression, enhanced susceptibility to opportunistic infections, and B-cell lymphomas.	MESH:D016183
HGNC:26624	KDF1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26624		
NCBITaxon:11157	Mononegavirales	organism taxon	mondo	GC_ID:1		negative-sense genome single-stranded RNA viruses	http://purl.obolibrary.org/obo/NCBITaxon_11157		
MONDO:0025489	enzootic bovine leukosis	biolink:Disease	mondo	MESH:D016583|EFO:1001315		bovine lymphoma|bovine lymphosarcoma|lymphomas, bovine|lymphosarcomas, bovine|leukemias, bovine|bovine Lymphosarcomas|bovine Lymphomas|leukoses, bovine|bovine Leukoses, enzootic|bovine leukemias|leukemia, bovine|bovine Leukoses|leukosis, enzootic bovine|lymphosarcoma, bovine|bovine leukemia|leukosis, bovine|enzootic bovine Leukoses|bovine leukosis, enzootic|lymphoma, bovine|bovine leukosis|leukoses, enzootic bovine	http://purl.obolibrary.org/obo/MONDO_0025489	A lymphoid neoplastic disease in cattle caused by the bovine leukemia virus. Enzootic bovine leukosis may take the form of lymphosarcoma, malignant lymphoma, or leukemia but the presence of malignant cells in the blood is not a consistent finding.	MESH:D016583
NCBITaxon:11158	Paramyxoviridae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_11158		
ENVO:01000343	altitudinal condition	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000343	An altitudinal condition is an environmental condition in which ranges of factors such as temperature, humidity, soil composition, solar irradiation, and tree density vary with ranges in altitude.	
ECTO:7000119	exposure to contaminated water	biolink:OntologyClass	mondo			contaminated water exposure	http://purl.obolibrary.org/obo/ECTO_7000119	A exposure event involving the interaction of an exposure receptor to contaminated water.	
GO:1904803	regulation of translation involved in cellular response to UV	biolink:OntologyClass	mondo			regulation of protein biosynthesis involved in cellular response to UV|regulation of translation involved in cellular response to ultraviolet radiation stimulus|regulation of protein anabolism involved in cellular response to UV|regulation of translation involved in cellular response to ultraviolet light stimulus|regulation of translation involved in cellular response to UV radiation stimulus|regulation of protein synthesis involved in cellular response to UV|regulation of protein formation involved in cellular response to UV|regulation of translation involved in cellular response to UV light stimulus	http://purl.obolibrary.org/obo/GO_1904803	Any regulation of translation that is involved in cellular response to UV.	
ECTO:7000114	exposure to aerosol	biolink:OntologyClass	mondo			aerosol exposure	http://purl.obolibrary.org/obo/ECTO_7000114	A exposure event involving the interaction of an exposure receptor to aerosol.	
MONDO:0025481	zoonosis	biolink:Disease	mondo	NCIT:C35803|Wikipedia:Zoonosis|MESH:D015047|UMLS:C0043528		infectious diseases, zoonotic|zoonotic infection|disease, zoonotic|zoonoses|zoonotic infectious disease|zoonotic infections|zoonotic infectious diseases|diseases, zoonotic|infectious disease, zoonotic|zoonotic disease|diseases, zoonotic infectious|infection, zoonotic|zoonotic diseases|infections, zoonotic|disease, zoonotic infectious	http://purl.obolibrary.org/obo/MONDO_0025481	An infectious disease of non-human animals that may be transmitted to humans or may be transmitted from humans to non-human animals, caused by a pathogen (an infectious agent, including bacteria, viruses, parasites, prions, etc).	MESH:D015047|UMLS:C0043528|NCIT:C35803
MONDO:0025484	simian acquired immunodeficiency syndrome	biolink:Disease	mondo	MESH:D016097|UMLS:C0080151		AIDSs, Simian|Simian immunodeficiency virus monkey disease|Simian acquired immune deficiency syndrome|Simian AIDSs|Simian immunodeficiency virus caused monkey disease|AIDS, Simian|Simian acquired immuno-deficiency syndrome|Simian AIDS|Simian acquired immuno deficiency syndrome|SAIDS	http://purl.obolibrary.org/obo/MONDO_0025484	Acquired defect of cellular immunity that occurs naturally in macaques infected with srv serotypes, experimentally in monkeys inoculated with srv or mason-pfizer monkey virus; (mpmv), or in monkeys infected with simian immunodeficiency virus.	UMLS:C0080151|MESH:D016097
MONDO:0025483	mammary neoplasms, animal	biolink:Disease	mondo	MESH:D015674		animal mammary carcinomas|neoplasms, mammary|mammary neoplasm|carcinoma, animal mammary|mammary neoplasm, animal|mammary carcinoma, animal|mammary neoplasms|neoplasms, animal mammary|mammary carcinomas, animal|animal mammary carcinoma|animal mammary neoplasms|neoplasm, animal mammary|neoplasm, mammary|carcinomas, animal mammary|animal mammary neoplasm	http://purl.obolibrary.org/obo/MONDO_0025483	Tumors or cancer of the mammary gland in animals (mammary glands, animal).	MESH:D015674
MONDO:0025485	feline acquired immunodeficiency syndrome	biolink:Disease	mondo	MESH:D016181|UMLS:C0079335		Feline acquired immuno-deficiency syndrome|FAIDS|Feline immunodeficiency virus caused cat disease|Feline acquired immuno deficiency syndrome|Feline AIDS|Feline immunodeficiency virus cat disease|Feline acquired immune deficiency syndrome|AIDS, Feline	http://purl.obolibrary.org/obo/MONDO_0025485	Acquired defect of cellular immunity that occurs in cats infected with feline immunodeficiency virus (fiv) and in some cats infected with feline leukemia virus (Felv).	MESH:D016181|UMLS:C0079335
ENVO:01000340	alpine	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000340	An altitudinal condition which inheres in a bearer by virtue of the bearer having a monthly mean temperature is less than 10 degrees Celsius and being located at altitudes above the tree line and below the snowline.	
ENVO:01000342	montane	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000342	An altitudinal condition which inheres in a bearer by virtue of the bearer being located at an altitude between mid-altitude forests and the tree line.	
NCBITaxon:11152	Turkey coronavirus	organism taxon	mondo	GC_ID:1		TCV|Turkey enteric coronavirus	http://purl.obolibrary.org/obo/NCBITaxon_11152		
MONDO:0025478	venereal tumors, veterinary	biolink:Disease	mondo	MESH:D014685|UMLS:C0042465		tumors, veterinary venereal|venereal tumor, veterinary|transmissible venereal tumors|tumors, transmissible venereal|veterinary venereal tumor|venereal tumors, transmissible|tumor, transmissible venereal|veterinary venereal tumors|tumor, veterinary venereal|venereal tumor, transmissible|transmissible venereal tumor	http://purl.obolibrary.org/obo/MONDO_0025478	Tumors most commonly seen on or near the genitalia. They are venereal, most likely transmitted through transplantation of cells by contact. Metastases have been reported. Spontaneous regression may occur.	UMLS:C0042465|MESH:D014685
ECTO:7000122	exposure to sea water	biolink:OntologyClass	mondo			sea water exposure	http://purl.obolibrary.org/obo/ECTO_7000122	A exposure event involving the interaction of an exposure receptor to sea water.	
MONDO:0013499	Fanconi anemia complementation group P	biolink:Disease	mondo	DOID:0111092|OMIM:613951		SLX4 Fanconi anemia|Slx4 Fanconi anemia|Fanconi anemia complementation group type P|Fanconi anemia, complementation group P; FANCP|Fanconi anemia caused by mutation in Slx4|Fanconi anemia caused by mutation in SLX4|Fanconi anemia, complementation group P|FANCP|Fanconi Anemia, complementation group type P	http://purl.obolibrary.org/obo/MONDO_0013499	Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.	http://identifiers.org/omim/613951|DOID:0111092
MONDO:0013497	Okt4 epitope deficiency	biolink:Disease	mondo	UMLS:C3151379|OMIM:613949		T4 epitope deficiency|Okt4 epitope deficiency	http://purl.obolibrary.org/obo/MONDO_0013497		http://identifiers.org/omim/613949|UMLS:C3151379
MONDO:0013498	schizophrenia 15	biolink:Disease	mondo	UMLS:C3151380|OMIM:613950|DOID:0070091		schizophrenia 15 with or without an affective disorder|schizophrenia 15; SCZD15|schizophrenia susceptibility locus, chromosome 22Q13-related|SCZD15|schizophrenia 15|schizophrenia type 15	http://purl.obolibrary.org/obo/MONDO_0013498	A schizophrenia that has material basis in a mutation of SHANK3 on chromosome 22q13.33.	DOID:0070091|http://identifiers.org/omim/613950|UMLS:C3151380
MONDO:0013491	megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation	biolink:Disease	mondo	UMLS:C3151356|DOID:0080317|OMIM:613926		megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation; MLC2B|MLC2B|megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation|megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability; MLC2B|megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability	http://purl.obolibrary.org/obo/MONDO_0013491		http://identifiers.org/omim/613926|DOID:0080317|UMLS:C3151356
MONDO:0013492	APMR3	biolink:Disease	mondo	UMLS:C3151362|OMIM:613930		APMR3|alopecia-mental retardation syndrome 3; APMR3|alopecia-mental retardation syndrome 3|alopecia-intellectual disability syndrome 3|alopecia-intellectual disability syndrome 3; APMR3	http://purl.obolibrary.org/obo/MONDO_0013492		http://identifiers.org/omim/613930|UMLS:C3151362
MONDO:0013490	megalencephalic leukoencephalopathy with subcortical cysts 2A	biolink:Disease	mondo	UMLS:C3151355|DOID:0080318|OMIM:613925		MLC2A|megalencephalic leukoencephalopathy with subcortical cysts type 2A|megalencephalic leukoencephalopathy with subcortical cysts 2A; MLC2A|megalencephalic leukoencephalopathy with subcortical cysts 2A	http://purl.obolibrary.org/obo/MONDO_0013490		DOID:0080318|http://identifiers.org/omim/613925|UMLS:C3151355
MONDO:0013495	autosomal recessive congenital ichthyosis 8	biolink:Disease	mondo	DOID:0060717|OMIM:613943|ICD10:Q80.2		lamellar ichthyosis 4|ichthyosis, lamellar, 4|lamellar ichthyosis, late-onset|ichthyosis, congenital, autosomal recessive 8; ARCI8|ichthyosis, congenital, autosomal recessive 8|late-onset lamellar ichthyosis|ARCI8|autosomal recessive congenital ichthyosis type 8|ichthyosis, lamellar, 4, formerly|ichthyosis, congenital, autosomal recessive type 8	http://purl.obolibrary.org/obo/MONDO_0013495	Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the LIPN gene.	DOID:0060717|http://identifiers.org/omim/613943
MONDO:0013496	IGAN2	biolink:Disease	mondo	OMIM:613944	predisposition	IgA nephropathy, susceptibility to, 2|IgA nephropathy, susceptibility to, 2; IGAN2|IGAN2	http://purl.obolibrary.org/obo/MONDO_0013496		http://identifiers.org/omim/613944
MONDO:0013493	ACACAD	biolink:Disease	mondo	UMLS:C0268603|MESH:C562678|OMIM:613933		Acc1 deficiency|ACACAD|ACETYL-CoA carboxylase deficiency; ACACAD|ACETYL-CoA carboxylase deficiency|Acaca deficiency	http://purl.obolibrary.org/obo/MONDO_0013493		MESH:C562678|UMLS:C0268603|http://identifiers.org/omim/613933
MONDO:0013494	obsolete PSMNSW	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0013494		
NCBITaxon:11135	Feline infectious peritonitis virus	organism taxon	mondo	GC_ID:1		FIPV	http://purl.obolibrary.org/obo/NCBITaxon_11135		
HGNC:26600	WDR81	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26600		
MONDO:0013488	APLDC3	biolink:Disease	mondo	UMLS:C3151347|OMIM:613913		APLDC3|lipodystrophy, partial, acquired, associated with C3 nephritic Factor|lipodystrophy, partial, acquired, with LOW complement component C3, with or without glomerulonephritis; APLDC3|lipodystrophy, partial, acquired, with LOW complement component C3, with or without glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0013488		http://identifiers.org/omim/613913|UMLS:C3151347
MONDO:0013489	autosomal recessive nonsyndromic deafness 89	biolink:Disease	mondo	DOID:0110534|OMIM:613916|UMLS:C3151351|ICD10:H90.3	clingen	KARS autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 89|deafness, autosomal recessive 89; DFNB89|deafness, autosomal recessive 89|autosomal recessive nonsyndromic deafness type 89|DFNB89|autosomal recessive deafness 89|autosomal recessive nonsyndromic deafness caused by mutation in KARS	http://purl.obolibrary.org/obo/MONDO_0013489	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the KARS gene.	http://identifiers.org/omim/613916|UMLS:C3151351|DOID:0110534
MONDO:0013486	spinocerebellar ataxia type 32	biolink:Disease	mondo	SCTID:719254001|ICD10:G11.8|UMLS:C4304844|Orphanet:276183|UMLS:C3151343|OMIM:613909	ordo_disease	SCA32|spinocerebellar ataxia 32|cerebellar ataxia with azoospermia and intellectual disability|spinocerebellar ataxia 32; SCA32	http://purl.obolibrary.org/obo/MONDO_0013486	Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, cognitive impairment and azoospermia in males.	UMLS:C3151343|UMLS:C4304844|ORPHA:276183|SNOMEDCT:719254001|http://identifiers.org/omim/613909
MONDO:0013487	recurrent Neisseria infections due to factor D deficiency	biolink:Disease	mondo	UMLS:C0398764|MESH:C565027|ICD9:279.8|SCTID:234607008|OMIM:613912|ICD10:D84.1|Orphanet:169467	ordo_disease	CFDD|complement factor D deficiency|factor D deficiency|complement factor D deficiency; CFDD	http://purl.obolibrary.org/obo/MONDO_0013487		MESH:C565027|UMLS:C0398764|SNOMEDCT:234607008|ORPHA:169467|http://identifiers.org/omim/613912
HGNC:14628	CDCA7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14628		
MONDO:0013480	renal hypomagnesemia 6	biolink:Disease	mondo	GARD:0012155|OMIM:613882|ICD10:E83.4|UMLS:C3151295|DOID:0060884	gard_rare	HOMG6|hypomagnesemia 6, renal|hypomagnesemia 6, renal; HOMG6|renal hypomagnesemia-6|renal hypomagnesemia type 6	http://purl.obolibrary.org/obo/MONDO_0013480		DOID:0060884|http://identifiers.org/omim/613882|UMLS:C3151295
MONDO:0013481	chromosome 13q14 deletion syndrome	biolink:Disease	mondo	ICD10:Q93.5|OMIM:613884|NCIT:C36421|MESH:C535484|DOID:0060391|Orphanet:1587	ordo_malformation_syndrome	chromosome 13q14 deletion syndrome|monosomy type 13q14|monosomy 13q14|chromosome 13Q deletion syndrome|deletion 13q14|del(13q14)|Del(13)(q14)	http://purl.obolibrary.org/obo/MONDO_0013481	Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.	MESH:C535484|DOID:0060391|NCIT:C36421|http://identifiers.org/omim/613884|ORPHA:1587
MONDO:0013484	cataract 36	biolink:Disease	mondo	DOID:0110247|UMLS:C3151304|OMIM:613887		cataract type 36|cataract 36; CTRCT36|cataract 36|cataract (disease) caused by mutation in TDRD7|cataract, autosomal recessive congenital 4|autosomal recessive congenital cataract 4|TDRD7 cataract (disease)|CTRCT36|CATC4	http://purl.obolibrary.org/obo/MONDO_0013484	Any cataract in which the cause of the disease is a mutation in the TDRD7 gene.	DOID:0110247|http://identifiers.org/omim/613887|UMLS:C3151304
MONDO:0013485	spinocerebellar ataxia type 35	biolink:Disease	mondo	UMLS:CN202597|GARD:0012366|DOID:0050982|SCTID:719300001|ICD10:G11.8|UMLS:C4304822|Orphanet:276193|OMIM:613908	ordo_disease	SCA35|spinocerebellar ataxia 35|spinocerebellar ataxia type 35|spinocerebellar ataxia 35; SCA35	http://purl.obolibrary.org/obo/MONDO_0013485	Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis.	UMLS:C4304822|DOID:0050982|ORPHA:276193|SNOMEDCT:719300001|UMLS:CN202597|http://identifiers.org/omim/613908
MONDO:0013482	Meckel syndrome, type 8	biolink:Disease	mondo	UMLS:C3836857|DOID:0070122|ICD10:Q61.9|OMIM:613885		Meckel syndrome 8|Meckel syndrome caused by mutation in TCTN2|Meckel-Gruber syndrome, type 8|MKS8|Meckel syndrome, type 8|TCTN2 Meckel syndrome|Meckel syndrome, type 8; MKS8	http://purl.obolibrary.org/obo/MONDO_0013482	Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene.	DOID:0070122|UMLS:C3836857|http://identifiers.org/omim/613885
CL:0000393	electrically responsive cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000393	A cell whose function is determined by its response to an electric signal.	
MONDO:0013483	obesity, hyperphagia, and developmental delay	biolink:Disease	mondo	MESH:C563938|UMLS:C3151303|OMIM:613886		OBHD|obesity, hyperphagia, and developmental delay; OBHD|obesity, hyperphagia, and developmental delay	http://purl.obolibrary.org/obo/MONDO_0013483		MESH:C563938|http://identifiers.org/omim/613886|UMLS:C3151303
MONDO:0003942	eosinophilic variant of chromophobe renal cell carcinoma	biolink:Disease	mondo	UMLS:C1333405|DOID:6606|NCIT:C27889		eosinophilic variant of chromophobe renal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0003942		NCIT:C27889|UMLS:C1333405|DOID:6606
MONDO:0003943	central nervous system hibernoma	biolink:Disease	mondo	UMLS:C1708362|DOID:6607|NCIT:C6997		hibernoma of central nervous system|hibernoma of the central nervous system|central nervous system hibernoma|nervous system hibernoma|hibernoma of nervous system	http://purl.obolibrary.org/obo/MONDO_0003943	A rare benign slow growing adipose tumor, characterized by the presence of polygonal brown fat cells with abundant cytoplasm, that arises within the nervous system.	NCIT:C6997|DOID:6607|UMLS:C1708362
MONDO:0003944	endobronchial leiomyoma	biolink:Disease	mondo	NCIT:C5661|UMLS:C1333386|DOID:6608		bronchus lung leiomyoma|lung leiomyoma of bronchus|endobronchial leiomyoma	http://purl.obolibrary.org/obo/MONDO_0003944	A benign smooth muscle neoplasm arising endobronchially. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	NCIT:C5661|UMLS:C1333386|DOID:6608
MONDO:0003945	bone epithelioid hemangioma	biolink:Disease	mondo	EFO:1000132|DOID:6610|UMLS:C1332578|UMLS:C1332575|NCIT:C5396		bone hemangioma|osseous epithelioid hemangioma|epithelioid angioma of bone|epithelioid angioma of the bone|osseous hemangioma|epithelioid hemangioma of bone|epithelioid hemangioma of the bone|bone epithelioid hemangioma|osseous epithelioid angioma|hemangioma of bone|bone epithelioid angioma	http://purl.obolibrary.org/obo/MONDO_0003945	A locally aggressive hemangioma that arises from the bone. It is characterized by the presence of epithelioid endothelial cells.	NCIT:C5396|DOID:6610|UMLS:C1332575|UMLS:C1332578
NCBITaxon:156300	Chaetothyriales incertae sedis	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_156300		
MONDO:0003940	Kummell disease	biolink:Disease	mondo	UMLS:C0152088|SCTID:111232005|ICD10:M48.3|COHD:81665|ICD9:721.7|DOID:6603		traumatic spondylopathy|bony vertebral centrum osteonecrosis|Kummell's disease|Kummell's spondylitis|avascular necrosis of a vertebral body|Kummell disease|osteonecrosis of bony vertebral centrum	http://purl.obolibrary.org/obo/MONDO_0003940	Kummell disease, or avascular necrosis of a vertebral body, presents as vertebral osteonecrosis typically affecting a thoracic vertebra with compression deformity, intravertebral vacuum cleft, and exaggerated kyphosis weeks to months after a minor traumatic injury.	UMLS:C0152088|DOID:6603|SNOMEDCT:111232005
MONDO:0003941	classic variant of chromophobe renal cell carcinoma	biolink:Disease	mondo	NCIT:C27888|DOID:6605|UMLS:C1333062		classic variant of chromophobe renal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0003941		NCIT:C27888|UMLS:C1333062|DOID:6605
MONDO:0015928	secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease	biolink:Disease	mondo	Orphanet:182104|UMLS:CN200522	ordo_group_of_disorders	secondary ILD in childhood and adulthood associated with a connective tissue disease|CTD-ILD	http://purl.obolibrary.org/obo/MONDO_0015928		UMLS:CN200522|ORPHA:182104
HP:0000998	Hypertrichosis	biolink:PhenotypicFeature	mondo	UMLS:C0020555|SNOMEDCT_US:29966009|MSH:D006983|SNOMEDCT_US:271607001		Excessive hair growth|Increased hair growth on body	http://purl.obolibrary.org/obo/HP_0000998	Hypertrichosis is increased hair growth that is abnormal in quantity or location.	
MONDO:0015927	idiopathic eosinophilic pneumonia	biolink:Disease	mondo	SCTID:708031000|ICD10:J82|UMLS:C3872845|Orphanet:182101	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015927		SNOMEDCT:708031000|UMLS:C3872845|ORPHA:182101
UBERON:0010143	seminal vesicle fluid	biolink:AnatomicalEntity	mondo			seminal vesicle secretion|vesicular fluid|secretion of seminal vesicle|seminal fluid	http://purl.obolibrary.org/obo/UBERON_0010143	A bodily secretion that is produced by a seminal vesicle.	
MONDO:0015926	pneumoconiosis	biolink:Disease	mondo	Orphanet:182098|ICD9:505|DOID:10316|UMLS:C0032273|SCTID:40122008|NCIT:C26861|GARD:0008356|COHD:259044|MedDRA:10035653|ICD10:J64|MESH:D011009	ordo_group_of_disorders	Black lung disease|coal worker's pneumoconiosis	http://purl.obolibrary.org/obo/MONDO_0015926	An occupational lung disorder caused by inhalation of dust particles. It is characterized by bilateral interstitial lung infiltrates. Representative examples include asbestosis, silicosis, anthracosis, and talc pneumoconiosis.	MEDDRA:10035653|MESH:D011009|DOID:10316|NCIT:C26861|UMLS:C0032273|ORPHA:182098|SNOMEDCT:40122008
MONDO:0015925	interstitial lung disease	biolink:Disease	mondo	GARD:0013336|Orphanet:182095|EFO:0004244|MESH:D017563|SCTID:233703007|MedDRA:10022611|COHD:4119786|ICD10:J84.9|DOID:3082|UMLS:C0206062	ordo_group_of_disorders	interstitial lung disease|ILD	http://purl.obolibrary.org/obo/MONDO_0015925	A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of pulmonary alveoli that extends to the interstitium and beyond leading to diffuse pulmonary fibrosis. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features.	DOID:3082|MEDDRA:10022611|SNOMEDCT:233703007|MESH:D017563|ORPHA:182095|UMLS:C0206062
UBERON:0010141	primitive sex cord of indifferent gonad	biolink:AnatomicalEntity	mondo			indifferent sex cord|primitive sex cords	http://purl.obolibrary.org/obo/UBERON_0010141	A sex cord that is part of a indifferent gonad.	
HP:0000999	Pyoderma	biolink:PhenotypicFeature	mondo	MSH:D011711|SNOMEDCT_US:70759006|UMLS:C0034212		Pus-filled lesion	http://purl.obolibrary.org/obo/HP_0000999	Any manifestation of a skin disease associated with the production of pus.	
UBERON:0010146	paraurethral duct	biolink:AnatomicalEntity	mondo			duct of paraurethral gland|female prostate duct|duct of Skene's gland|periurethral duct|ductus paraurethrales urethrae femininae|Skene's duct|paraurethral gland duct	http://purl.obolibrary.org/obo/UBERON_0010146	The Skene's ducts are a pair of ducts leading from the Skene's glands to the surface of the vulva, to the left and right of the urethral opening.	
UBERON:0010147	male accessory sex gland	biolink:AnatomicalEntity	mondo			male accessory gland|male accessory reproductive gland	http://purl.obolibrary.org/obo/UBERON_0010147	Any gland, other than the gonad, associated with the genital tract, such as the ampulla of the ductus deferens and the bulbourethral, prostate and vesicular glands of the male.	
UBERON:0010145	paraurethral gland	biolink:AnatomicalEntity	mondo			female urethral gland|urethral gland of clitoral urethra|Guerin's gland|female prostate|glandula vestibulares minor|Skene gland|U-spot|Skene's gland of clitoral urethra|female urethral gland|Skene's gland|glandulae vestibulares minores|para-urethral gland|periurethral gland|Schueller's gland	http://purl.obolibrary.org/obo/UBERON_0010145	the numerous mucous-secreting glands found in several female mammalian species (including rodents and humans) on the anterior wall of the vagina, around the lower end of the urethra, and possessing a common paraurethral duct which opens (on each side) near the external urethral orifice; they are homologous with the prostate gland in males, have highly variable anatomy, and are believed to be the source of the female ejaculate, a lubricating fluid with a similar consistency to male prostatic fluid that is expelled through the urethra during sexual stimulation; like the male prostate, these glands are susceptible to infection (skenitis), cyst development, and cancer	
MONDO:0015929	thoracic malformation	biolink:Disease	mondo	Orphanet:182108	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015929		ORPHA:182108
MONDO:0015931	obsolete rare urogenital tumor	biolink:Disease	mondo	UMLS:CN200523|Orphanet:182114	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0015931		ORPHA:182114|UMLS:CN200523
MONDO:0015930	respiratory malformation	biolink:Disease	mondo	Orphanet:182111	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015930		ORPHA:182111
HP:0000992	Cutaneous photosensitivity	biolink:PhenotypicFeature	mondo	MSH:D010787|SNOMEDCT_US:90128006|UMLS:C0349506	hposlim_core	Sensitivity to sunlight|Photosensitivity|Sun sensitivity|Photosensitive skin rashes|Photosensitive skin|Skin photosensitivity	http://purl.obolibrary.org/obo/HP_0000992	An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.	
HGNC:7448	MTM1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7448		
HP:0000991	Xanthomatosis	biolink:PhenotypicFeature	mondo	UMLS:C0043325|MSH:D014973|SNOMEDCT_US:63103006		Yellow bumps of fatty deposits on skin|Xanthomata	http://purl.obolibrary.org/obo/HP_0000991	The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.	
NCBITaxon:50557	Insecta	organism taxon	mondo	GC_ID:1		true insects	http://purl.obolibrary.org/obo/NCBITaxon_50557		
MONDO:0015935	extragonadal germinoma	biolink:Disease	mondo	Orphanet:182127|MedDRA:10018207	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015935		UMLS:C0206660|MESH:D018237|ORPHA:182127|MEDDRA:10018207
MONDO:0015934	non-syndromic urogenital tract malformation of male and female	biolink:Disease	mondo	Orphanet:182124	ordo_group_of_disorders	isolated urogenital tract malformation of male and female|nonsyndromic urogenital tract malformation of male and female	http://purl.obolibrary.org/obo/MONDO_0015934		ORPHA:182124
MONDO:0015933	non-syndromic urogenital tract malformation of male	biolink:Disease	mondo	Orphanet:182121	ordo_group_of_disorders	non-syndromic urogenital tract malformation of male organism|nonsyndromic urogenital tract malformation of male|male organism non-syndromic urogenital tract malformation|isolated urogenital tract malformation of male	http://purl.obolibrary.org/obo/MONDO_0015933	A non-syndromic urogenital tract malformation that involves the male organism.	ORPHA:182121
MONDO:0015932	non-syndromic urogenital tract malformation of female	biolink:Disease	mondo	Orphanet:182117	ordo_group_of_disorders	isolated urogenital tract malformation of female|nonsyndromic urogenital tract malformation of female|female organism non-syndromic urogenital tract malformation|non-syndromic urogenital tract malformation of female organism	http://purl.obolibrary.org/obo/MONDO_0015932	A non-syndromic urogenital tract malformation that involves the female organism.	ORPHA:182117
MONDO:0003939	muscle tissue disease	biolink:Disease	mondo	DOID:66		disease or disorder of muscle tissue|disease of muscle tissue|muscle tissue disease or disorder|disorder of muscle tissue|muscle tissue disease|disorder of muscle tissue	http://purl.obolibrary.org/obo/MONDO_0003939	A disease involving the muscle tissue.	DOID:66
MONDO:0003935	oncocytic breast carcinoma	biolink:Disease	mondo	NCIT:C40366|DOID:6585|UMLS:C1518574		oncocytic breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0003935	A rare breast adenocarcinoma characterized by the presence of neoplastic oncocytic cells. The oncocytic cells comprise more than 70 percent of the malignant cellular population.	UMLS:C1518574|NCIT:C40366|DOID:6585
MONDO:0003936	invasive tubular breast carcinoma	biolink:Disease	mondo	UMLS:C1328544|NCIT:C9135|DOID:6587		invasive tubular carcinoma of the breast|invasive tubular breast carcinoma|invasive tubular carcinoma of breast|tubular carcinoma of the breast|tubular breast cancer|breast tubular adenocarcinoma|infiltrating tubular carcinoma of breast|infiltrating tubular carcinoma of the breast|tubular carcinoma of breast|infiltrating tubular breast carcinoma|tubular breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0003936	An invasive adenocarcinoma of the breast with a favorable prognosis. It is composed of tubular structures lined by a single layer of epithelium.	NCIT:C9135|DOID:6587|UMLS:C1328544
MONDO:0003937	spondylitis	biolink:Disease	mondo	MESH:D013166|ICD9:720.89|ICD9:720.8|SCTID:84172003|NCIT:C116779|ICD10:M46|DOID:6590		vertebra inflammation|inflammation of vertebra	http://purl.obolibrary.org/obo/MONDO_0003937	The inflammation of a vertebra.	NCIT:C116779|SNOMEDCT:84172003|MESH:D013166|DOID:6590
MONDO:0003938	bladder colonic type adenocarcinoma	biolink:Disease	mondo	UMLS:C1511188|DOID:6594|NCIT:C39835		bladder enteric type adenocarcinoma|bladder colonic type adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003938		UMLS:C1511188|NCIT:C39835|DOID:6594
MONDO:0003953	pediatric CNS choriocarcinoma	biolink:Disease	mondo	UMLS:C1377604|DOID:6639|NCIT:C6206		choriocarcinoma of the pediatric central nervous system|choriocarcinoma of the central nervous system of childhood|choriocarcinoma of pediatric central nervous system|childhood choriocarcinoma of the central nervous system|childhood CNS choriocarcinoma|childhood central nervous system choriocarcinoma|choriocarcinoma of the pediatric CNS|choriocarcinoma of pediatric CNS|pediatric central nervous system choriocarcinoma|choriocarcinoma of childhood central nervous system|choriocarcinoma of the childhood central nervous system|Central nervous system choriocarcinoma|pediatric choriocarcinoma of the central nervous system|choriocarcinoma of the childhood CNS|pediatric choriocarcinoma of the central nervous system|choriocarcinoma of childhood CNS	http://purl.obolibrary.org/obo/MONDO_0003953	A choriocarcinoma that arises from the central nervous system and occurs during childhood.	UMLS:C1377604|DOID:6639|NCIT:C6206
MONDO:0003954	angiokeratoma of Fordyce	biolink:Disease	mondo	DOID:664|SCTID:6331000|UMLS:C0263639		Fordyce angiokeratoma|Fordyce's spot|Fordyce-type angiokeratoma of scrotum	http://purl.obolibrary.org/obo/MONDO_0003954	An angiokeratoma that is located on the scrotum or vulva.	UMLS:C0263639|SNOMEDCT:6331000|DOID:664
MONDO:0003955	juvenile breast papillomatosis	biolink:Disease	mondo	DOID:6641|SCTID:708518001|NCIT:C9503|UMLS:C1334303		juvenile papillomatosis of breast|Swiss cheese disease|breast juvenile papillomatosis|juvenile papillomatosis of the breast|juvenile breast papillomatosis	http://purl.obolibrary.org/obo/MONDO_0003955	A benign, usually solitary, well circumscribed multicystic neoplasm that arises from the breast and typically affects young females. The cysts are lined by papillary proliferations that contain epithelial and myoepithelial layers. In a minority of cases, atypia may be present.	SNOMEDCT:708518001|UMLS:C1334303|DOID:6641|NCIT:C9503
MONDO:0003956	Baastrup syndrome	biolink:Disease	mondo	DOID:6643|ICD10:M48.20|COHD:75908|UMLS:C0158248|ICD9:721.5|SCTID:82304009|ICD10:M48.2		Baastrup's syndrome|kissing spine|Baastrup syndrome	http://purl.obolibrary.org/obo/MONDO_0003956		DOID:6643|UMLS:C0158248|SNOMEDCT:82304009
MONDO:0003950	nipple carcinoma	biolink:Disease	mondo	DOID:6629|UMLS:C1334966|NCIT:C28432		nipple cancer|nipple carcinoma|carcinoma of nipple	http://purl.obolibrary.org/obo/MONDO_0003950	A carcinoma that arises from epithelial cells of the nipple	UMLS:C1334966|DOID:6629|NCIT:C28432
MONDO:0003951	scrotal hemangioma	biolink:Disease	mondo	DOID:663|NCIT:C6387|UMLS:C1335936		scrotum hemangioma|hemangioma of scrotum|scrotal angioma|hemangioma of the scrotum|angioma of the scrotum|angioma of scrotum|scrotal hemangioma	http://purl.obolibrary.org/obo/MONDO_0003951	A hemangioma arising from the skin of the scrotum.	UMLS:C1335936|DOID:663|NCIT:C6387
MONDO:0003952	adult central nervous system choriocarcinoma	biolink:Disease	mondo	NCIT:C5793|DOID:6634|UMLS:C1370505		adult choriocarcinoma of the central nervous system|choriocarcinoma of the adult CNS|Central nervous system choriocarcinoma|choriocarcinoma of adult CNS|choriocarcinoma of adult central nervous system|choriocarcinoma of the adult central nervous system|adult CNS choriocarcinoma|choriocarcinoma of the central nervous system of adults|adult central nervous system choriocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003952	A choriocarcinoma of the central nervous system that occurs in an adult.	UMLS:C1370505|NCIT:C5793|DOID:6634
UBERON:0009141	craniocervical region vein	biolink:AnatomicalEntity	mondo			vein of head and neck|craniocervical vein|head and neck veins	http://purl.obolibrary.org/obo/UBERON_0009141	A vein that is part of a craniocervical region.	
HGNC:26703	SYNE4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26703		
UBERON:0010131	conducting tissue of heart	biolink:AnatomicalEntity	mondo			specialized conducting tissue of heart|specialized muscle tissue of heart	http://purl.obolibrary.org/obo/UBERON_0010131	Any portion of cardiac muscle tissue that is part of the conducting system of heart or the Purkinje fibers.	
MONDO:0015917	malignant glioma	biolink:Disease	mondo	NCIT:C4822|ICDO:9380/3|Orphanet:182067|UMLS:C0555198|OMIMPS:137800|KEGG:05214|DOID:3070|MedDRA:10018338	ordo_group_of_disorders	neuroglial tumor|malignant glial tumor|malignant glial neoplasm|glioma|malignant neuroglial tumor|high grade glioma|glial cell tumor|high-grade glioma|malignant neuroglial neoplasm|malignant glioma|glioma, malignant	http://purl.obolibrary.org/obo/MONDO_0015917	A grade III or grade IV glioma arising from the central nervous system. This category includes glioblastoma, anaplastic astrocytoma, anaplastic ependymoma, anaplastic oligodendroglioma, and anaplastic oligoastrocytoma.	MEDDRA:10018338|DOID:3070|NCIT:C4822|ORPHA:182067|UMLS:C0555198
MONDO:0015916	rare neuroinflammatory or neuroimmunological disease	biolink:Disease	mondo	Orphanet:182064|UMLS:CN200514	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0015916		UMLS:CN200514|ORPHA:182064
HP:0010311	Aplasia/Hypoplasia of the breasts	biolink:PhenotypicFeature	mondo	UMLS:C4023911		Absent/small breasts|Absent/underdeveloped breasts	http://purl.obolibrary.org/obo/HP_0010311	Absence or underdevelopment of the breasts.	
MONDO:0015915	cerebellar malformation	biolink:Disease	mondo	Orphanet:182061	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015915		ORPHA:182061
UBERON:0010130	embryonic autopod plate	biolink:AnatomicalEntity	mondo			autopod plate|limb plate	http://purl.obolibrary.org/obo/UBERON_0010130	The distal elements of the developing limb of vertebrates that will give rise to the autopod (e.g. manus, pes, paw)	
MONDO:0015914	primary orthostatic hypotension	biolink:Disease	mondo	GARD:0012959|Orphanet:182058	ordo_group_of_disorders|gard_rare	neurogenic orthostatic hypotension	http://purl.obolibrary.org/obo/MONDO_0015914	Primary orthostatic hypotension is a rare type of orthostatic hypotension. It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system, such as multiple system atrophy, young-onset Parkinson's disease, pure autonomic failure, dopamine beta-hydroxylase deficiency, familial dysautonomia, and pure autonomic failure among others. The autonomic nervous system is the part of the nervous system that regulates certain involuntary body functions such as heart rate, blood pressure, sweating, and bowel and bladder control. Orthostatic hypotension is a form of low blood pressure that happens when standing-up from sitting or lying down. Common symptoms may include dizziness, lightheadedness, generalized weakness, leg buckling, nausea, blurry vision, fatigue, and headaches. Additional symptoms can include chest pain (angina), head and neck pain (often affecting neck and shoulders with a coat hanger distribution), decline in cognitive functioning such as difficulty concentrating, temporary loss of consciousness or “blackout”. Some people with primary orthostatic hypotension may also have high blood pressure when lying down. The treatment depends upon several factors including the specific underlying cause including The treatment depends upon several factors including the specific underlying cause and may include physical counter-maneuvers like lying down, sitting down, squatting clenching buttocks, leg crossing, and support garment and medication.	ORPHA:182058
UBERON:0010135	sensory circumventricular organ	biolink:AnatomicalEntity	mondo			humerosensory system organ|sensory circumventricular organs|humerosensory system|humerosensory circumventricular organ|sensitive circumventricular organs|sensitive organs|sensory CVOs	http://purl.obolibrary.org/obo/UBERON_0010135	A circumventricular organ that is capable of monitoring the levels of substances to the cerebrospinal fluid.	
MONDO:0015919	syndromic neurometabolic disease with non-X-linked intellectual disability	biolink:Disease	mondo	Orphanet:182073|UMLS:CN200517	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015919		UMLS:CN200517|ORPHA:182073
UBERON:0010133	neuroendocrine gland	biolink:AnatomicalEntity	mondo			neuroendocrine system gland	http://purl.obolibrary.org/obo/UBERON_0010133	any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli	
UBERON:0010134	secretory circumventricular organ	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010134	A circumventricular organ that is capable of secreting substances into the cerebrospinal fluid.	
MONDO:0015918	obsolete rare neurodegenerative disease	biolink:Disease	mondo	Orphanet:182070	obsoletion_candidate|ordo_group_of_disorders	rare neurodegenerative disease	http://purl.obolibrary.org/obo/MONDO_0015918	Rare neurodegenerative disease.	ORPHA:182070
MONDO:0015920	syndromic neurometabolic disease with X-linked intellectual disability	biolink:Disease	mondo	UMLS:CN200518|Orphanet:182076	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015920		ORPHA:182076|UMLS:CN200518
UBERON:0010129	femur cartilage element	biolink:AnatomicalEntity	mondo			femoral cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0010129	A femur endochondral element that is composed primarily of cartilage tissue.	
HGNC:7456	MT-ND2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7456		
HGNC:7459	MT-ND4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7459		
HGNC:7458	MT-ND3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7458		
MONDO:0015924	pulmonary arterial hypertension	biolink:Disease	mondo	GARD:0007501|MedDRA:10064911|UMLS:CN200519|UMLS:C2973725|Orphanet:182090|SCTID:11399002	ordo_group_of_disorders	PAH|idiopathic pulmonary hypertension|PPH	http://purl.obolibrary.org/obo/MONDO_0015924	Pulmonary arterial hypertension (PAH) is a group of diseases characterized by elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, or induced by drug or toxin (drug-or toxin-induced PAH) or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease).	MEDDRA:10064911|SNOMEDCT:11399002|UMLS:C2973725|UMLS:C0152171|ORPHA:182090|MESH:C536282|UMLS:CN200519
HP:0010316	Ebstein anomaly of the tricuspid valve	biolink:PhenotypicFeature	mondo	EPCC:06.01.34|UMLS:C0013481|SNOMEDCT_US:204357006|ICD-10:Q22.5|MSH:D004437		Ebstein's anomaly|Ebstein's anomaly of the tricuspid valve|Ebstein's malformation	http://purl.obolibrary.org/obo/HP_0010316	Ebstein's anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet.	
MONDO:0015923	acquired peripheral neuropathy	biolink:Disease	mondo	Orphanet:182086	ordo_group_of_disorders	acquired peripheral neuropathy	http://purl.obolibrary.org/obo/MONDO_0015923	An instance of peripheral neuropathy that is acquired during the lifetime of the individual.	ORPHA:182086
MONDO:0015922	channelopathy with epilepsy	biolink:Disease	mondo	Orphanet:182083	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015922		ORPHA:182083
MONDO:0015921	ARX-related epileptic encephalopathy	biolink:Disease	mondo	Orphanet:182079	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015921		ORPHA:182079
UBERON:0009142	entire embryonic mesenchyme	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009142	Sum total of mesenchyme in the embryo.	
UBERON:0009145	pharyngeal region of foregut	biolink:AnatomicalEntity	mondo			pharyngeal region	http://purl.obolibrary.org/obo/UBERON_0009145		
HGNC:7450	MTMR2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7450		
MONDO:0003946	vaginal villous adenoma	biolink:Disease	mondo	NCIT:C40259|UMLS:C1519936|DOID:6613		vaginal villous adenoma|vagina villous adenoma	http://purl.obolibrary.org/obo/MONDO_0003946	An adenoma that arises from the vagina and is characterized by a villous architectural pattern.	UMLS:C1519936|NCIT:C40259|DOID:6613
MONDO:0003947	hyper-IgM syndrome	biolink:Disease	mondo	NCIT:C3990|MESH:D053306|ICD9:279.05|COHD:432287|OMIMPS:308230|Wikidata:Q1617658|SCTID:82286005|UMLS:C0272236|DOID:0080544|DC:0000222		hyperimmunoglobulin M syndrome|immunodeficiency with hyper-IgM	http://purl.obolibrary.org/obo/MONDO_0003947	A primary immune deficiency disorder characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation.	MESH:D053306|UMLS:C0272236|NCIT:C3990|SNOMEDCT:82286005|DOID:0080544
NCBITaxon:37567	Ditrysia	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_37567		
MONDO:0003948	cerebral hemangioma	biolink:Disease	mondo	DOID:6621|UMLS:C0877388|NCIT:C5433		hemangioma of cerebrum|telencephalon hemangioma|cerebral hemangioma|cerebral angioma|hemangioma of telencephalon|cerebral hemispheric angioma|cerebral hemispheric hemangioma|hemangioma of cerebral hemispheres|angioma of cerebral hemispheres|angioma of cerebrum|angioma of the cerebrum|angioma of the cerebral hemispheres|hemangioma of the cerebrum|hemangioma of the cerebral hemispheres	http://purl.obolibrary.org/obo/MONDO_0003948	A hemangioma arising from the cerebral hemisphere.	UMLS:C0877388|NCIT:C5433|DOID:6621
HGNC:7455	MT-ND1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7455		
MONDO:0003949	obsolete cervical adenoma malignum	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003949		
MONDO:0003920	obsolete gastric small cell carcinoma	biolink:Disease	mondo			stomach small cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0003920		
MONDO:0003921	posterior foramen magnum meningioma	biolink:Disease	mondo	UMLS:C1335449|NCIT:C5282|DOID:6553		meningioma of the posterior Foramen magnum|meningioma of posterior Foramen magnum	http://purl.obolibrary.org/obo/MONDO_0003921	A meningioma that affects the posterior foramen magnum.	NCIT:C5282|UMLS:C1335449|DOID:6553
MONDO:0003922	ovarian clear cell malignant adenofibroma	biolink:Disease	mondo	UMLS:C2075522|DOID:6554|ICDO:8313/3|NCIT:C40079		ovarian clear cell adenocarcinofibroma|ovarian clear cell malignant adenofibroma	http://purl.obolibrary.org/obo/MONDO_0003922	A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells with clear cytoplasm in a fibrotic stroma.	NCIT:C40079|UMLS:C2075522|DOID:6554
MONDO:0003923	ethmoid sinus Schneiderian papilloma	biolink:Disease	mondo	DOID:6559|NCIT:C6836|UMLS:C1333476		Schneiderian papilloma of the ethmoid sinus|ethmoid sinus Schneiderian papilloma|Schneiderian papilloma of ethmoid sinus	http://purl.obolibrary.org/obo/MONDO_0003923	A papilloma that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It is classified as inverted papilloma and oncocytic papilloma.	NCIT:C6836|UMLS:C1333476|DOID:6559
MONDO:0015906	obsolete rare disorder with hypergonadotropic hypogonadism	biolink:Disease	mondo	Orphanet:181441|UMLS:CN226785	ordo_group_of_disorders|obsoletion_candidate	rare disorder with primary hypogonadism	http://purl.obolibrary.org/obo/MONDO_0015906		UMLS:CN226785|ORPHA:181441
MONDO:0015905	syndromic dyslipidemia	biolink:Disease	mondo	UMLS:C3875286|SCTID:109041000119107|Orphanet:181437	ordo_group_of_disorders	complex dyslipidemia|syndrome associated with inherited lipid metabolism disorder|rare syndromic dyslipidemia|syndromic inherited lipid metabolism disorder|syndrome associated with inherited lipid metabolism disorder	http://purl.obolibrary.org/obo/MONDO_0015905	A inherited lipid metabolism disorder that is part of a larger syndrome.	SNOMEDCT:109041000119107|UMLS:C3875286|ORPHA:181437
HP:0000975	Hyperhidrosis	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:364538006|SNOMEDCT_US:415690000|SNOMEDCT_US:415691001|UMLS:C0038990|SNOMEDCT_US:161857006|SNOMEDCT_US:312230002|UMLS:C0020458|MSH:D013546|SNOMEDCT_US:52613005|MSH:D006945|UMLS:C0700590|MEDDRA:10020642	hposlim_core	Sweating, increased|Profuse sweating|Excessive sweating|Sweating|Increased sweating|Sweating profusely|Diaphoresis	http://purl.obolibrary.org/obo/HP_0000975	Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.	
HP:0010301	Spinal dysraphism	biolink:PhenotypicFeature	mondo	UMLS:C0027794|SNOMEDCT_US:253098009|MSH:D009436		Incomplete closure of the vertebral arch	http://purl.obolibrary.org/obo/HP_0010301	A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.	
MONDO:0015904	obsolete rare hypolipidemia	biolink:Disease	mondo	Orphanet:181431|UMLS:CN226783	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0015904		ORPHA:181431|UMLS:CN226783
HP:0000978	Bruising susceptibility	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:302227002|UMLS:C0423798|SNOMEDCT_US:424131007|SNOMEDCT_US:425075004|UMLS:C0013491|SNOMEDCT_US:77643000|MSH:D004438		Bruisability|Easy bruising|Bruise easily|Easy bruisability|Bruising susceptibility	http://purl.obolibrary.org/obo/HP_0000978	An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.	
MONDO:0015903	hyperalphalipoproteinemia	biolink:Disease	mondo	ICD9:272.4|SCTID:238080004|ICD10:E78.4|Orphanet:181428|NCIT:C128806|UMLS:C0342883	ordo_group_of_disorders	HALP1	http://purl.obolibrary.org/obo/MONDO_0015903	An autosomal dominant genetic condition caused by mutation(s) in the CETP gene, encoding cholesteryl ester transfer protein. Affected individuals may have increased longevity due to decreased risk of coronary heart disease.	ORPHA:181428|NCIT:C128806|UMLS:C0342883|SNOMEDCT:238080004
MONDO:0015909	aplastic anemia	biolink:Disease	mondo	ICD10:D61.3|COHD:137829|NCIT:C2870|ICD10:D61.0|ICD9:284.9|ICD10:D61.2|ICD10:D61.1|SCTID:306058006|DOID:12449|Orphanet:182040|MESH:D000741|ICD10:D61.9|ICD9:284.8|ICD10:D61.8	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015909	Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors.	ORPHA:182040|NCIT:C2870|MESH:D000741|DOID:12449|SNOMEDCT:306058006
HP:0000979	Purpura	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:423902002|SNOMEDCT_US:387778001|UMLS:C0034150|SNOMEDCT_US:12393003|MSH:D011693	hposlim_core	Red or purple spots on the skin|Blood spots	http://purl.obolibrary.org/obo/HP_0000979	Purpura (from Latin: purpura, meaning "purple") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae.	
UBERON:0010125	future superior salivatory nucleus	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010125	A gray matter that has the potential to develop into a superior salivatory nucleus.	
MONDO:0015908	chromomycosis	biolink:Disease	mondo	ICD10:B43.2|ICD10:B43.1|MedDRA:10008803|ICD10:B43.0|DOID:1562|Orphanet:182|ICD9:117.2|SCTID:187079000|EFO:0007207|ICD10:B43.9|UMLS:C0008582|ICD10:B43.8|MESH:D002862|GARD:0001319|COHD:437796|UMLS:C3245522	ordo_disease	Chromoblastomycoses|mossy foot disease|chromoblastomycosis|Chromomycosis|chromomycosis|Chromomycoses|dermatitis Verrucosa	http://purl.obolibrary.org/obo/MONDO_0015908	Chromomycosis is a chronic cutaneous and subcutaneous fungal infection, found mainly in subtropical and tropical areas (in soil and plant debris and transmitted by traumatic inoculation), and characterized clinically by slow growing, verrucous nodules, squamous plaques, or chronic limited lesions which are most commonly found on the lower limbs and which are characterized histologically by the presence of muriform cells. It is caused by dematiaceous fungi, with the main etiological agents being Fonsecaea pedrosoi, Phialophora verrucosa and Cladophialophora carrionii. Rarely, it can be caused by Rhinocladiella aquaspersa.	MEDDRA:10008803|MESH:D002862|ORPHA:182|SNOMEDCT:187079000|UMLS:C0008582|DOID:1562|UMLS:C3245522
MONDO:0015907	epimetaphyseal skeletal dysplasia	biolink:Disease	mondo	ICD10:Q77.8|Orphanet:1819|GARD:0002176	gard_rare|ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0015907		ORPHA:1819
UBERON:0010123	future facial nucleus	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010123	A gray matter that has the potential to develop into a facial nucleus.	
HGNC:7468	MTR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7468		
HGNC:7467	MTTP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7467		
HP:0000970	Anhidrosis	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:39659002|MSH:D007007|SNOMEDCT_US:14662005|UMLS:C0003028|MEDDRA:10002512	hposlim_core	Sudomotor dysfunction|Lack of sweating|Sweating dysfunction|Anhydrosis	http://purl.obolibrary.org/obo/HP_0000970	Inability to sweat.	
HP:0010307	Stridor	biolink:PhenotypicFeature	mondo	UMLS:C0237304|SNOMEDCT_US:248573009|SNOMEDCT_US:70407001|UMLS:C0038450|MSH:D012135		Noisy breathing	http://purl.obolibrary.org/obo/HP_0010307	Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.	
HP:0000972	Palmoplantar hyperkeratosis	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:706885006|MSH:D007645|UMLS:C0022596	hposlim_core	Thickening of the outer layer of the skin of the palms and soles|Palmoplantar keratosis|Thick palms and soles|Hyperkeratosis of the palms and soles|Hyperkeratosis of palms and soles|Palmoplantar keratoses|Thickened palms and soles	http://purl.obolibrary.org/obo/HP_0000972	Hyperkeratosis affecting the palm of the hand and the sole of the foot.	
MONDO:0015913	rare thrombotic disease of hematologic origin	biolink:Disease	mondo	Orphanet:182054|UMLS:CN200513	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0015913		UMLS:CN200513|ORPHA:182054
MONDO:0015912	MYH-9 related disease	biolink:Disease	mondo	Orphanet:182050|SCTID:712922002|DOID:0060651|GARD:0000180|ICD9:287.33|ICD10:D69.4	ordo_disease|gard_rare	May-Hegglin anomaly|MYH9 related thrombocytopenia|MYH9-RD|MYH9-related disease|Sebastian syndrome|MYH9-related syndromic thrombocytopenia|MYH9 related disorders|Fechtner syndrome|MYH9-related syndrome|Epstein syndrome|MYH9-related disorder|Sebastian platelet syndrome	http://purl.obolibrary.org/obo/MONDO_0015912	MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD.	SNOMEDCT:712922002|DOID:0060651|ORPHA:182050
MONDO:0015911	obsolete rare acquired hemolytic anemia	biolink:Disease	mondo	Orphanet:182047|NCIT:C34377|SCTID:4854004	ordo_group_of_disorders|obsoletion_candidate	Acquired hemolytic Anemia	http://purl.obolibrary.org/obo/MONDO_0015911	Hemolytic anemia, the cause of which is not present at birth.	SNOMEDCT:4854004|ORPHA:182047|NCIT:C34377
MONDO:0015910	obsolete rare constitutional hemolytic anemia	biolink:Disease	mondo	UMLS:CN226786|Orphanet:182043	ordo_group_of_disorders|obsoletion_candidate	rare familial constitutional hemolytic anemia|rare genetic constitutional hemolytic anemia	http://purl.obolibrary.org/obo/MONDO_0015910		ORPHA:182043|UMLS:CN226786
MONDO:0003917	heart lymphoma	biolink:Disease	mondo	DOID:6547|UMLS:C1332850|NCIT:C5368		heart lymphoma|lymphoma of the heart|Primary heart lymphoma|PCL|lymphoma of heart|Cardiac lymphoma|primary Cardiac lymphoma	http://purl.obolibrary.org/obo/MONDO_0003917	An extranodal lymphoma that arises from the heart and/or the pericardium. The majority of the cases are diffuse large B-cell lymphomas. Patients may present with chest pain, heart failure, pericardial effusion, arrhythmia, or syncope.	DOID:6547|UMLS:C1332850|NCIT:C5368
HGNC:7460	MT-ND4L	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7460		
MONDO:0003918	angiomatous meningioma	biolink:Disease	mondo	UMLS:C0334608|NCIT:C4332|DOID:6548|ICDO:9534/0|EFO:1000086		angiomatous meningioma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003918	A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells.	UMLS:C0334608|DOID:6548|NCIT:C4332
UBERON:0009132	peroneus	biolink:AnatomicalEntity	mondo			fibularis|fibularis muscle|peroneal muscle|peroneal muscle group|peroneus muscle|peronæus muscle|peroneal muscles	http://purl.obolibrary.org/obo/UBERON_0009132	One of a group of three muscles fibularis (peronæus) longus, brevis, and tertius originating on the fibula and inserting on the metatarsals	
HGNC:7462	MT-ND6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7462		
UBERON:0009133	pleuroperitoneal membrane	biolink:AnatomicalEntity	mondo			pleuroperitoneal membranes|pleuroperitoneal fold	http://purl.obolibrary.org/obo/UBERON_0009133	A fold of tissue which extends into the peritoneal cavity of the developing embryo and participates in the separation of the pleural and peritoneal cavities.	
MONDO:0003919	obsolete inherited metabolic disorder	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003919		
HGNC:7461	MT-ND5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7461		
MONDO:0003913	choroid mixed cell melanoma	biolink:Disease	mondo	DOID:6525|UMLS:C1333025|NCIT:C35782		optic choroid mixed cell uveal melanoma|mixed cell uveal melanoma of optic choroid|choroid mixed cell melanoma	http://purl.obolibrary.org/obo/MONDO_0003913	A mixed cell uveal melanoma that involves the optic choroid.	DOID:6525|NCIT:C35782|UMLS:C1333025
HGNC:7464	MTNR1B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7464		
MONDO:0003914	obsolete inborn purine-pyrimidine metabolic disorder	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003914		
MONDO:0003915	cortical thymoma	biolink:Disease	mondo	NCIT:C6888|DOID:6530|UMLS:C1266095|ICDO:8584/1		thymoma, cortical|polygonal cell thymoma|thymoma type B2|cortical thymoma	http://purl.obolibrary.org/obo/MONDO_0003915	A thymic epithelial neoplasm characterized by the presence of neoplastic large, polygonal epithelial cells with large vesicular nuclei and prominent nucleoli. The neoplastic cells are arranged around perivascular spaces and along septa. Immature T-lymphocytes are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It is a tumor of moderate malignancy. The majority of cases occur in the anterior mediastinum as Masaoka stage I, stage II, or stage III tumors. Metastatic, stage IV tumors occur less frequently.	DOID:6530|UMLS:C1266095|NCIT:C6888
MONDO:0003916	overnutrition	biolink:Disease	mondo	SCTID:302872003|MESH:D044343|UMLS:C1257763|ICD9:278.8|DOID:654			http://purl.obolibrary.org/obo/MONDO_0003916	An imbalanced nutritional status resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as obesity.	MESH:D044343|DOID:654|SNOMEDCT:302872003|UMLS:C1257763
MONDO:0003931	childhood optic tract astrocytoma	biolink:Disease	mondo	DOID:6575|NCIT:C7534|UMLS:C1333014		optic tract astrocytoma of childhood|childhood optic tract astrocytoma|pediatric optic tract astrocytoma|pediatric visual pathway astrocytoma|pediatric optic tract astrocytoma|childhood visual pathway astrocytoma	http://purl.obolibrary.org/obo/MONDO_0003931	An astrocytoma that arises from the visual pathway and occurs during childhood.	NCIT:C7534|UMLS:C1333014|DOID:6575
MONDO:0003932	childhood optic nerve glioma	biolink:Disease	mondo	GARD:0009309|DOID:6576|NCIT:C7535		childhood optic tract glioma|visual pathway glioma|pediatric visual pathway glioma|glioma of pediatric visual pathway|pediatric optic tract glioma|pediatric optic nerve glioma|pediatric optic nerve glioma|childhood visual pathway glioma|glioma of the pediatric visual pathway|optic nerve glioma of childhood|glioma of childhood visual pathway|glioma of the childhood visual pathway|visual pathway and hypothalamic glioma, childhood	http://purl.obolibrary.org/obo/MONDO_0003932	A glioma affecting the optic tract and occurring in childhood.	NCIT:C7535|DOID:6576
MONDO:0003933	chest wall bone cancer	biolink:Disease	mondo	DOID:6579|NCIT:C6724|UMLS:C1334572		malignant chest wall bone tumor|bone cancer of chest wall|malignant bone neoplasm of chest wall|malignant bone tumor of chest wall|malignant bone tumor of the chest wall|malignant bone neoplasm of the chest wall|chest wall bone cancer|malignant chest wall bone neoplasm	http://purl.obolibrary.org/obo/MONDO_0003933	An uncommon malignant neoplasm that arises from the chest wall bones. Representative examples include chondrosarcoma, osteosarcoma, and Ewing sarcoma/peripheral primitive neuroectodermal tumor.	NCIT:C6724|UMLS:C1334572|DOID:6579
MONDO:0003934	breast apocrine carcinoma	biolink:Disease	mondo	NCIT:C5141|DOID:6581|UMLS:C1332316		breast apocrine adenocarcinoma|apocrine breast carcinoma|apocrine carcinoma of breast|breast apocrine carcinoma|apocrine carcinoma of the breast|apocrine adenocarcinoma of breast	http://purl.obolibrary.org/obo/MONDO_0003934	An adenocarcinoma of the breast characterized by the presence of two intermingled cellular components: cells with abundant granular, eosinophilic cytoplasm, and cells with abundant cytoplasm containing fine empty vacuoles.	NCIT:C5141|DOID:6581|UMLS:C1332316
MONDO:0003930	non-invasive bladder urothelial carcinoma	biolink:Disease	mondo	NCIT:C6188|UMLS:C1336089|DOID:6571		stage 0 bladder urothelial carcinoma aJCC v6 and v7|non-invasive bladder urothelial carcinoma|stage 0 transitional cell carcinoma of the bladder|stage 0 transitional cell carcinoma of bladder|stage 0 bladder urothelial carcinoma aJCC v7|stage 0 bladder urothelial cancer|stage 0 bladder urothelial carcinoma aJCC v6|stage 0 urinary bladder transitional cell carcinoma|stage 0 bladder urothelial carcinoma|stage 0 transitional cell carcinoma of the urinary bladder|stage 0 transitional cell carcinoma of urinary bladder	http://purl.obolibrary.org/obo/MONDO_0003930	Stage 0 includes: 0a (Ta, N0, M0); 0is (Tis, N0, M0). Ta: Noninvasive papillary carcinoma. Tis: Carcinoma in situ: "flat tumor". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)	NCIT:C6188|UMLS:C1336089|DOID:6571
HP:0000989	Pruritus	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:424492005|MSH:D011537|SNOMEDCT_US:418363000|SNOMEDCT_US:418290006|SNOMEDCT_US:279333002|UMLS:C0033774	hposlim_core	Itching|Skin itching|pruritis|Itchy skin	http://purl.obolibrary.org/obo/HP_0000989	Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.	
HP:0000988	Skin rash	biolink:PhenotypicFeature	mondo	MSH:D005076|UMLS:C0015230|MEDDRA:10037844|SNOMEDCT_US:112625008|SNOMEDCT_US:271807003		Rash|Skin rash|Exanthem	http://purl.obolibrary.org/obo/HP_0000988	A red eruption of the skin.	
UBERON:0009129	right atrium endocardium	biolink:AnatomicalEntity	mondo			right atrial endocardium|endocardium of right atrium|right atrium endocardial tissue	http://purl.obolibrary.org/obo/UBERON_0009129	Endocardium that is part of the right atrium.	
MONDO:0015902	major hypertriglyceridemia	biolink:Disease	mondo	ICD10:E78.1|Orphanet:181425	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015902	Major hypertriglyceridemia comprises a group of endocrine diseases characterized by permanently high levels of triglycerides (TG) in the blood (higher than 4g/L after 12 hours of fasting) and an increased risk of acute pancreatitis, making screening essential.	ORPHA:181425
MONDO:0015901	obsolete rare inherited hyperlipidemia	biolink:Disease	mondo	Orphanet:181422	ordo_group_of_disorders|obsoletion_candidate	rare hyperlipidemia	http://purl.obolibrary.org/obo/MONDO_0015901		ORPHA:181422
HP:0000982	Palmoplantar keratoderma	biolink:PhenotypicFeature	mondo	MSH:D007645|UMLS:C0022596|SNOMEDCT_US:706885006		Palmar and plantar keratoderma|Thickening of palms and soles	http://purl.obolibrary.org/obo/HP_0000982	Abnormal thickening of the skin of the palms of the hands and the soles of the feet.	
MONDO:0015900	hypoaldosteronism disease	biolink:Disease	mondo	UMLS:C0020595|SCTID:60086000|GARD:0002874|MESH:D006994|Orphanet:181419|ICD10:E27.4	ordo_group_of_disorders|gard_rare	rare hypoaldosteronism|hypoaldosteronism	http://purl.obolibrary.org/obo/MONDO_0015900		ORPHA:181419|SNOMEDCT:60086000|MESH:D006994|UMLS:C0020595
MONDO:0003928	uterine corpus myxoid leiomyosarcoma	biolink:Disease	mondo	ONCOTREE:UMLMS|UMLS:C1519861|DOID:6567|NCIT:C40175		myxoid leiomyosarcoma of body of uterus|uterine corpus myxoid leiomyosarcoma|body of uterus myxoid leiomyosarcoma|uterine myxoid leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003928	A morphologic variant of leiomyosarcoma arising from the uterus corpus. It is characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma.	DOID:6567|UMLS:C1519861|NCIT:C40175
MONDO:0003929	vestibular micropapillomatosis	biolink:Disease	mondo	NCIT:C40290|DOID:6569|UMLS:C1519982		micropapillomatosis labialis|vestibular micropapillomatosis	http://purl.obolibrary.org/obo/MONDO_0003929	A benign neoplastic process characterized by the presence of multiple vestibular papillomas in the vulva.	DOID:6569|UMLS:C1519982|NCIT:C40290
HGNC:7470	MT-RNR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7470		
HGNC:7473	MTRR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7473		
UBERON:0009122	adenohypophyseal placode	biolink:AnatomicalEntity	mondo			pituitary placode	http://purl.obolibrary.org/obo/UBERON_0009122	The adenohypophyseal placode forms the anterior lobe of the pituitary gland and gives rise to the endocrine secretory cells of the pituitary	
UBERON:0009124	geniculate placode	biolink:AnatomicalEntity	mondo			epibranchial placode 1|hyoid placode|facial VII placode|facial placode|hyoid VII placode|facial epibranchial placode	http://purl.obolibrary.org/obo/UBERON_0009124	Rostralmost epibranchial placode. Associated with 1st branchial cleft.	
MONDO:0003924	adrenal cortex adenoma	biolink:Disease	mondo	DOID:0050891|EFO:0003104|GARD:0005745|UMLS:C0206667|DOID:656|HP:0008196|ICDO:8370/0|ONCOTREE:ACA|SCTID:302826002|Orphanet:463|MESH:D018246|NCIT:C9003|HP:0008256	gard_rare	adrenal incidentaloma|benign adenoma of the adrenal gland|benign adrenal gland adenoma|benign adenoma of adrenal gland|adenoma of the adrenal gland|adrenocortical adenoma|benign adrenal adenoma|adenoma of adrenal cortex|adenoma, adrenocortical, benign|adenoma of the adrenal cortex|adrenal cortex adenoma|adrenal gland adenoma|adrenal adenoma|adrenal cortical adenoma|cortical cell adenoma|adenoma of adrenal gland	http://purl.obolibrary.org/obo/MONDO_0003924	A benign neoplasm that can arise from any of the adrenal cortical layers. It can be associated with the overproduction of glucocorticoids (Cushing's syndrome), androgenic or estrogenic steroids (adrenogenital syndrome), or mineralocorticoids (Conn's syndrome). (Sternberg Diagnostic Surgical Pathology, 3rd ed.)	DOID:656|ORPHA:463|UMLS:C0206667|DOID:0050891|MESH:D018246|SNOMEDCT:302826002|NCIT:C9003
UBERON:0009125	petrosal placode	biolink:AnatomicalEntity	mondo			epibranchial placode 2|glossopharyngeal IX placode|glossopharyngeal placode|glossopharyngeal epibranchial placode	http://purl.obolibrary.org/obo/UBERON_0009125	Epibranchial placode between geniculate and nodose. Associated with 2nd branchial cleft.	
MONDO:0003925	ethmoid sinus inverted papilloma	biolink:Disease	mondo	NCIT:C6843|UMLS:C1333474|DOID:6562		inverted papilloma of ethmoid sinus|inverted papilloma of the ethmoid sinus|ethmoid sinus inverted papilloma	http://purl.obolibrary.org/obo/MONDO_0003925	A benign neoplasm that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma.	DOID:6562|NCIT:C6843|UMLS:C1333474
MONDO:0003926	neurilemmoma of the pleura	biolink:Disease	mondo	DOID:6564|NCIT:C5418|UMLS:C1335435		pleural schwannoma|schwannoma of pleura|neurilemmoma of pleura|pleura schwannoma|pleural neurilemmoma|schwannoma of the pleura	http://purl.obolibrary.org/obo/MONDO_0003926	A schwannoma that involves the pleura.	DOID:6564|NCIT:C5418|UMLS:C1335435
UBERON:0009126	nodosal placode	biolink:AnatomicalEntity	mondo			vagal epibranchial placodes|vagal placode|nodose placodes|nodose placode|vagal epibranchial placode|vagal X placode|epibranchial placode 3	http://purl.obolibrary.org/obo/UBERON_0009126	Caudalmost epibranchial placode. Associated with 3rd branchial cleft.	
HGNC:7477	MT-TC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7477		
UBERON:0009127	epibranchial ganglion	biolink:AnatomicalEntity	mondo			epibranchial ganglia	http://purl.obolibrary.org/obo/UBERON_0009127	Cranial ganglion which develops from an epibranchial placode.	
MONDO:0003927	posterior uveal melanoma	biolink:Disease	mondo	DOID:6566		small size posterior uveal melanoma|medium/large size posterior uveal melanoma	http://purl.obolibrary.org/obo/MONDO_0003927		DOID:6566
MONDO:0001323	infant gynecomastia	biolink:Disease	mondo	SCTID:34831003|ICD9:778.7|UMLS:C1449721|COHD:73019|DOID:11603|ICD10:P83.4		breast engorgement in newborn|neonatal gynaecomastia	http://purl.obolibrary.org/obo/MONDO_0001323	Transient bilateral swelling of breast tissue in a neonate that results from the waning influence of maternal estrogen.	UMLS:C1449721|NCIT:C117312|SNOMEDCT:34831003|DOID:11603
MONDO:0003986		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003986		
MONDO:0001322	pericardium cancer	biolink:Disease	mondo	NCIT:C4567|UMLS:C0346609|DOID:116|ICD10:C38.0		malignant pericardial neoplasm|malignant tumor of the pericardium|cancer of pericardium|malignant tumor of pericardium|pericardium cancer|pericardial tumor|malignant pericardial tumor|malignant pericardium neoplasm|malignant neoplasm of the pericardium|malignant neoplasm of pericardium	http://purl.obolibrary.org/obo/MONDO_0001322	A malignant neoplasm involving the pericardium.	NCIT:C4567|UMLS:C0346609|DOID:116
MONDO:0003987	lung lymphoma	biolink:Disease	mondo	UMLS:C1704383|NCIT:C4794|DOID:6760		primary lung lymphoma|lymphoma of the lung|lung lymphoma|pulmonary lymphoma|lymphoma of lung	http://purl.obolibrary.org/obo/MONDO_0003987	A rare non-Hodgkin or Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis.	NCIT:C4794|DOID:6760|UMLS:C1704383
MONDO:0001321	scleral staphyloma (disease)	biolink:Disease	mondo	DOID:11595|COHD:436133|UMLS:C0155359|ICD10:H15.84|HP:0030854|SCTID:111534007|ICD9:379.11		scleral ectasia|scleral staphyloma	http://purl.obolibrary.org/obo/MONDO_0001321		SNOMEDCT:111534007|UMLS:C0155359|DOID:11595
MONDO:0003988	sternum lymphoma	biolink:Disease	mondo	UMLS:C1336504|DOID:6762|NCIT:C6716		sternum lymphoma|lymphoma of the sternum|sternal lymphoma|lymphoma of sternum|primary sternal lymphoma	http://purl.obolibrary.org/obo/MONDO_0003988	A rare lymphoma that arises from the bone or soft tissue of the sternum.	DOID:6762|NCIT:C6716|UMLS:C1336504
UBERON:0009191	sphenoid bone pre-cartilage condensation	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009191	A sphenoid endochondral element that is composed primarily of a pre-cartilage condensation.	
MONDO:0003989	polyembryoma of the ovary	biolink:Disease	mondo	UMLS:C1514199|NCIT:C39990|ONCOTREE:OPE|DOID:6774		polyembryoma|ovarian polyembryoma	http://purl.obolibrary.org/obo/MONDO_0003989	A rare, malignant germ cell tumor arising from the ovary. It is characterized by the presence of embryoid bodies which resemble early embryos.	NCIT:C39990|UMLS:C1514199|DOID:6774
MONDO:0001320	ring staphyloma	biolink:Disease	mondo	ICD10:H15.85|DOID:11594|SCTID:5299007|ICD9:379.15|UMLS:C0155363			http://purl.obolibrary.org/obo/MONDO_0001320		SNOMEDCT:5299007|UMLS:C0155363|DOID:11594
MONDO:0001327	pelvic muscle wasting	biolink:Disease	mondo	ICD10:N81.84|DOID:11629|ICD9:618.83			http://purl.obolibrary.org/obo/MONDO_0001327		DOID:11629
MONDO:0003982	bilateral breast carcinoma	biolink:Disease	mondo	NCIT:C8287|UMLS:C0281267|DOID:6741		bilateral breast cancer|bilateral breast cancer|bilateral breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0003982	Carcinoma that affects both breasts in a simultaneous or non-simultaneous manner.	DOID:6741|NCIT:C8287|UMLS:C0281267
UBERON:0009193	sphenoid cartilage element	biolink:AnatomicalEntity	mondo			sphenoid bone cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0009193	A sphenoid endochondral element that is composed primarily of cartilage tissue.	
MONDO:0003983	synchronous bilateral breast carcinoma	biolink:Disease	mondo	NCIT:C40370|UMLS:C1515107|DOID:6742			http://purl.obolibrary.org/obo/MONDO_0003983	Carcinoma that is detected in one breast within two months from the diagnosis of carcinoma in the other breast.	UMLS:C1515107|NCIT:C40370|DOID:6742
UBERON:0010183	liver trabecula	biolink:AnatomicalEntity	mondo			hepatic trabecula	http://purl.obolibrary.org/obo/UBERON_0010183	A trabecula that is part of a liver	
MONDO:0001326	dental pulp necrosis	biolink:Disease	mondo	SCTID:42711005|COHD:437590|ICD9:522.1|UMLS:C0011407|MESH:D003790|DOID:11623|ICD10:K04.1		necrosis of pulp|necrotic pulp|necrosis of the pulp|pulp necrosis	http://purl.obolibrary.org/obo/MONDO_0001326	Death of pulp tissue with or without bacterial invasion. When the necrosis is due to ischemia with superimposed bacterial infection, it is referred to as pulp gangrene. When the necrosis is non-bacterial in origin, it is called pulp mummification.	DOID:11623|MESH:D003790|SNOMEDCT:42711005|UMLS:C0011407
MONDO:0001325	penile cancer	biolink:Disease	mondo	ICD10:C60|ICD10:C60.9|ICD10:C60.8|ICD9:187.3|UMLS:CN226091|ICD10:C60.2|DOID:11615|ICD10:C60.1|SCTID:363516004|ICD10:C60.0|ICD9:187.4|NCIT:C7547|Orphanet:398043	ordo_group_of_disorders	penile cancer|malignant penile tumor|malignant penile neoplasm|malignant tumor of the penis|malignant neoplasm of body of penis|malignant tumor of penis|penis cancer|penile Ca|penile neoplasm|cancer of penis|malignant penis neoplasm|Ca penis|malignant neoplasm of penis|malignant neoplasm of the penis	http://purl.obolibrary.org/obo/MONDO_0001325	A primary or metastatic malignant neoplasm that affects the penis. Representative examples include penile carcinoma and penile sarcoma.	DOID:11615|SNOMEDCT:363516004|UMLS:CN226091|ORPHA:398043|NCIT:C7547
MONDO:0003984	internal auditory canal lipoma	biolink:Disease	mondo	UMLS:C1334226|NCIT:C5452|DOID:6752		inner Ear lipoma|internal acoustic meatus lipoma|lipoma of internal auditory canal|lipoma of internal acoustic meatus|internal Ear lipoma|lipoma of the internal auditory canal	http://purl.obolibrary.org/obo/MONDO_0003984	A rare benign adipose tissue neoplasm of the internal auditory canal, often presenting as an acoustic tumor. It may be intermixed with the vestibulocochlear nerve and may adhere to adjacent structures.	UMLS:C1334226|DOID:6752|NCIT:C5452
MONDO:0003985	chest wall lymphoma	biolink:Disease	mondo	DOID:6758|UMLS:C1332933|NCIT:C6712		lymphoma of chest wall|malignant tumor of chest wall|chest wall lymphoma|lymphoma of the chest wall|malignant neoplasm of chest wall|chest wall cancer|primary chest wall lymphoma	http://purl.obolibrary.org/obo/MONDO_0003985	A lymphoma that affects the structures of the chest wall. The majority of cases are diffuse large B-cell lymphomas.	DOID:6758|UMLS:C1332933|NCIT:C6712
MONDO:0001324	hyperandrogenism	biolink:Disease	mondo	UMLS:C0206081|MESH:D017588|DOID:11613|SCTID:237793004|EFO:0009006		hyperandrogenization syndrome	http://purl.obolibrary.org/obo/MONDO_0001324	A condition caused by the excessive secretion of androgens from the adrenal cortex; the ovaries; or the testes. The clinical significance in males is negligible. In women, the common manifestations are hirsutism and virilism as seen in patients with polycystic ovary syndrome and adrenocortical hyperfunction.	MESH:D017588|DOID:11613|UMLS:C0206081|SNOMEDCT:237793004
UBERON:0009196	indifferent external genitalia	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009196		
MONDO:0013309	chromosome 2p12-p11.2 deletion syndrome	biolink:Disease	mondo	OMIM:613564|DOID:0060414|UMLS:C3150804		chromosome 2p12-p11.2 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0013309		UMLS:C3150804|DOID:0060414|http://identifiers.org/omim/613564
UBERON:0010186	male urethral gland	biolink:AnatomicalEntity	mondo			gland of male urethra|urethral gland (male)|Littre's gland|gland of Littre|male urethra gland|glandulae urethrales urethrae masculinae	http://purl.obolibrary.org/obo/UBERON_0010186	any of the numerous small mucous-secreting glands located in the wall of the penile urethra	
UBERON:0010187	female urethral gland	biolink:AnatomicalEntity	mondo			urethral gland (female)|gland of female urethra|female urethra gland	http://purl.obolibrary.org/obo/UBERON_0010187	An urethral gland that is part of a female urethra.	
MONDO:0013307	myopathy, lactic acidosis, and sideroblastic anemia 2	biolink:Disease	mondo	OMIM:613561|DOID:0111186|UMLS:C3150802		myopathy, lactic acidosis, and sideroblastic anemia 2; MLASA2|YARS2 mitochondrial myopathy and sideroblastic anemia|MLASA2|mitochondrial myopathy and sideroblastic anemia caused by mutation in YARS2|myopathy, lactic acidosis, and sideroblastic anemia 2|myopathy, lactic acidosis, and sideroblastic Anemia type 2	http://purl.obolibrary.org/obo/MONDO_0013307	Any mitochondrial myopathy and sideroblastic anemia in which the cause of the disease is a mutation in the YARS2 gene.	http://identifiers.org/omim/613561|DOID:0111186|UMLS:C3150802
MONDO:0003980	schwannoma of jugular foramen	biolink:Disease	mondo	DOID:6735|UMLS:C1334300|NCIT:C5323		jugular foramen schwannoma|schwannoma of the jugular Foramen|neurilemmoma of the jugular Foramen|neurilemmoma of jugular Foramen|jugular Foramen neurilemmoma	http://purl.obolibrary.org/obo/MONDO_0003980	A rare intracranial schwannoma that affects the jugular foramen.	DOID:6735|NCIT:C5323|UMLS:C1334300
UBERON:0010185	rete ovarii	biolink:AnatomicalEntity	mondo			rete ovarii of ovary	http://purl.obolibrary.org/obo/UBERON_0010185	A structure formed from the primary sex cords in females, counterpart of the rete testis in males.	
MONDO:0015969	obsolete rare genetic thyroid disease	biolink:Disease	mondo	Orphanet:183631|UMLS:CN200568	obsoletion_candidate|ordo_group_of_disorders	rare genetic thyroid disease	http://purl.obolibrary.org/obo/MONDO_0015969	Rare genetic thyroid disease.	ORPHA:183631|UMLS:CN200568
MONDO:0013308	CBL-related disorder	biolink:Disease	mondo	UMLS:C4016301|ICD10:Q87.1|OMIM:613563|Orphanet:363972|UMLS:C3150803	ordo_malformation_syndrome	Noonan-like syndrome|Cbl syndrome|NSLL|Noonan syndrome-like disorder with JMML|Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia|Cbl mutation-associated syndrome|Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia; NSLL|Noonan syndrome-like disorder with juvenile myelomonocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0013308	CBL-related disorder is a genetic condition caused by pathogenic variants in the Cbl ubiquitin ligase gene, (CBL; HGNC:1541). Due to the proposed mechanism indicating the CBL gene's relationship to the RAS-MAPK pathway and the phenotypic presentation similar to that of the RASopathies, CBL-related disorder should be considered a RASopathy disorder. Though there is a wide spectrum of phenotypic variability, broadly, patients with CBL-related disorder have presented with developmental delay, intellectual disability, neurodevelopmental alterations, prenatal lymphatic anomalies, cardiac malformations as well as vascular anomalies particularly affecting the brain (e.g. Moya-moya arteriopathies), craniofacial features indicative of a RASopathy, hypotonia, feeding difficulties, edema of the legs, musculoskeletal and respiratory thorax abnormalities, ectodermal features including cafe-au-lait spots, immunological and hematological disorders and susceptibility to tumors diagnosed as juvenile myelomonocytic leukemia (JMML) that is usually self-remitting. Note tumor risk beyond JMML has not yet been thoroughly assessed. Due to the clinical presentation of a broad spectrum of these and other phenotypes in patients with variants in CBL, these conditions are currently defined by experts in reference to the causal gene, CBL.	http://identifiers.org/omim/613563|UMLS:C4016301|ORPHA:363972|UMLS:C3150803
MONDO:0003981	obsolete cervix small cell carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003981		
UBERON:0010188	protuberance	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010188	A roughly circular bulge in a surface.	
UBERON:0010189	right atrium venous valve	biolink:AnatomicalEntity	mondo			right venous valve	http://purl.obolibrary.org/obo/UBERON_0010189		
MONDO:0013312	retinitis pigmentosa 55	biolink:Disease	mondo	ICD10:H35.5|OMIM:613575|DOID:0110370|UMLS:C3150808		ARL6 retinitis pigmentosa|retinitis pigmentosa 55; RP55|retinitis pigmentosa type 55|RP55|retinitis pigmentosa 55|retinitis pigmentosa caused by mutation in ARL6	http://purl.obolibrary.org/obo/MONDO_0013312	Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL6 gene.	http://identifiers.org/omim/613575|DOID:0110370|UMLS:C3150808
MONDO:0015975	hyper-IgM syndrome with susceptibility to opportunistic infections	biolink:Disease	mondo	Orphanet:183663|ICD10:D80.5|UMLS:CN200572	predisposition|ordo_disease	HIGM with susceptibility to opportunistic infections	http://purl.obolibrary.org/obo/MONDO_0015975		ORPHA:183663|UMLS:CN200572
MONDO:0015974	severe combined immunodeficiency (disease)	biolink:Disease	mondo	GARD:0007628|SCTID:31323000|NCIT:C3472|HP:0004430|MedDRA:10069566|COHD:29783|Orphanet:183660|DOID:627|UMLS:C0085110|ICD10:D81.9|ICD10:D81.3|ICD10:D81.2|MESH:D016511|ICD10:D81.1|ICD10:D81.0	ordo_group_of_disorders	severe combined immunodeficiency|SCID|severe combined immunodeficiency disease|combined T and B cell inborn immunodeficiency|severe combined immunodeficiency (disease)	http://purl.obolibrary.org/obo/MONDO_0015974	Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells.	NCIT:C3472|UMLS:C0085110|ORPHA:183660|DOID:627|SNOMEDCT:31323000|MEDDRA:10069566|MESH:D016511
MONDO:0013313	ectodermal dysplasia-cutaneous syndactyly syndrome	biolink:Disease	mondo	OMIM:613576|ICD10:Q82.8|UMLS:C3150809|Orphanet:247827	ordo_malformation_syndrome	EDCS|ectodermal dysplasia-syndactyly syndrome 2; EDSS2|ectodermal dysplasia-syndactyly syndrome 2|EDSS2	http://purl.obolibrary.org/obo/MONDO_0013313		http://identifiers.org/omim/613576|UMLS:C3150809|ORPHA:247827
HGNC:7489	MT-TK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7489		
MONDO:0013310	congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	biolink:Disease	mondo	SCTID:715733000|Orphanet:95699|GARD:0012664|OMIM:613571|ICD10:E25.0	ordo_disease|gard_rare	congenital adrenal hyperplasia due to cytochrome POR deficiency|disordered steroidogenesis due to cytochrome P450 oxidoreductase|PORD|POR deficiency|disordered steroidogenesis due to POR deficiency|adrenal hyperplasia, congenital, due to cytochrome P450 oxidoreductase deficiency|disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency	http://purl.obolibrary.org/obo/MONDO_0013310	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations.	SNOMEDCT:715733000|http://identifiers.org/omim/613571|ORPHA:95699
MONDO:0015973	obsolete rare genetic coagulation disorder	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015973		
MONDO:0015972	obsolete rare constitutional anemia	biolink:Disease	mondo	Orphanet:183651|UMLS:CN226818	obsoletion_candidate|ordo_group_of_disorders	rare inborn anemia (disease)|rare constitutional anemia (disease)|rare genetic anemia (disease)	http://purl.obolibrary.org/obo/MONDO_0015972	A form of anemia (disease) that is both rare and inborn.	ORPHA:183651|UMLS:CN226818
MONDO:0013311	ectodermal dysplasia-syndactyly syndrome	biolink:Disease	mondo	DC:0000645|OMIMPS:613573|Orphanet:247820|UMLS:CN228599|ICD10:Q82.8	prototype_pattern|ordo_malformation_syndrome	EDSS1|EDSS1|ectodermal dysplasia-syndactyly syndrome 1|EDSS|ectodermal dysplasia-syndactyly syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0013311	Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.	UMLS:CN228599|ORPHA:247820
MONDO:0013316	occult macular dystrophy	biolink:Disease	mondo	UMLS:C3150833|OMIM:613587|ICD10:H35.5|DOID:0050578|Orphanet:247834	ordo_disease	OMD|Omd|OCMD|occult macular dystrophy; OCMD|occult macular dystrophy	http://purl.obolibrary.org/obo/MONDO_0013316	Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms.	ORPHA:247834|http://identifiers.org/omim/613587|DOID:0050578|UMLS:C3150833
MONDO:0015979	hereditary predisposition to infections	biolink:Disease	mondo	Orphanet:183710|ICD10:D84.8	ordo_group_of_disorders	genetic susceptibility to infections due to particular pathogens	http://purl.obolibrary.org/obo/MONDO_0015979		ORPHA:183710
MONDO:0013317	torsade-de-pointes syndrome with short coupling interval	biolink:Disease	mondo	OMIM:613600|ICD10:I49.8|UMLS:C3150851|Orphanet:51084|SCTID:718104007	ordo_disease	torsade DE pointes, short-coupled variant	http://purl.obolibrary.org/obo/MONDO_0013317	Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death.	SNOMEDCT:718104007|ORPHA:51084|http://identifiers.org/omim/613600|UMLS:C3150851
MONDO:0015978	functional neutrophil defect	biolink:Disease	mondo	SCTID:105600002|Orphanet:183681	ordo_group_of_disorders	neutrophilopathy|neutrophil disease	http://purl.obolibrary.org/obo/MONDO_0015978		ORPHA:183681|SNOMEDCT:105600002
MONDO:0013314	retinitis pigmentosa 56	biolink:Disease	mondo	ICD10:H35.5|UMLS:C3150819|DOID:0110371|OMIM:613581		maculopathy, Impg2-related|retinitis pigmentosa caused by mutation in IMPG2|RP56|retinitis pigmentosa 56; RP56|IMPG2 retinitis pigmentosa|retinitis pigmentosa type 56|retinitis pigmentosa 56	http://purl.obolibrary.org/obo/MONDO_0013314	Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPG2 gene.	http://identifiers.org/omim/613581|UMLS:C3150819|DOID:0110371
MONDO:0015977	agammaglobulinemia	biolink:Disease	mondo	ICD9:279.00|MESH:D000361|MedDRA:10001471|ICD10:D80.1|DOID:2583|Orphanet:183669|OMIMPS:601495|GARD:0007455	ordo_group_of_disorders|gard_rare	Immunoglobulin Deficiency|antibody Deficiency|IGHM|Gammaglobulin Deficiency|hypogammaglobulinemia|mu heavy chain deficiency	http://purl.obolibrary.org/obo/MONDO_0015977	A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes.	MEDDRA:10001471|ORPHA:183669|MESH:D000361|UMLS:C0001768|DOID:2583
MONDO:0015976	hyper-IgM syndrome without susceptibility to opportunistic infections	biolink:Disease	mondo	Orphanet:183666|UMLS:CN200573|ICD10:D80.5	predisposition|ordo_disease	HIGM without susceptibility to opportunistic infections	http://purl.obolibrary.org/obo/MONDO_0015976		ORPHA:183666|UMLS:CN200573
MONDO:0013315	retinitis pigmentosa 57	biolink:Disease	mondo	ICD10:H35.5|DOID:0110407|OMIM:613582|UMLS:C3150821		RP57|PDE6G retinitis pigmentosa|retinitis pigmentosa 57; RP57|retinitis pigmentosa caused by mutation in PDE6G|retinitis pigmentosa type 57|retinitis pigmentosa 57	http://purl.obolibrary.org/obo/MONDO_0013315	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6G gene.	http://identifiers.org/omim/613582|UMLS:C3150821|DOID:0110407
UBERON:0009198	craniofacial suture	biolink:AnatomicalEntity	mondo			joint of the skull bones|articulation of skull bones	http://purl.obolibrary.org/obo/UBERON_0009198	Any suture between cranial and/or facial bones.	
MONDO:0001319	bladder lateral wall cancer	biolink:Disease	mondo	COHD:73153|UMLS:C0496828|ICD9:188.2|DOID:11593|SCTID:188241004|ICD10:C67.2		malignant neoplasm of lateral wall of urinary bladder	http://purl.obolibrary.org/obo/MONDO_0001319		DOID:11593|NCIT:C12333|UMLS:C0496828|SNOMEDCT:188241004
HGNC:7481	MT-TF	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7481		
MONDO:0001318	functional gastric disease	biolink:Disease	mondo	ICD9:536.9|ICD9:306.4|SCTID:150541000119104|SCTID:386211005|ICD9:536.8|DOID:1159		disorder of gastric function|functional gastric disorder|disorder of stomach function|functional gastric disturbance|disorder of function of stomach	http://purl.obolibrary.org/obo/MONDO_0001318		DOID:1159|SNOMEDCT:150541000119104|SNOMEDCT:386211005
UBERON:0009199	facial suture	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009199	Any suture between facial bones.	
MONDO:0001317	phlyctenulosis	biolink:Disease	mondo	COHD:377287|ICD9:370.31|DOID:11581|UMLS:C0155080|SCTID:67895005|ICD10:H16.25		Phlyctenular keratoconjunctivitis|strumous ophthalmia	http://purl.obolibrary.org/obo/MONDO_0001317		SNOMEDCT:67895005|DOID:11581|UMLS:C0155080
MONDO:0015971	obsolete rare genetic adrenal disease	biolink:Disease	mondo	UMLS:CN200570|Orphanet:183637	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0015971		ORPHA:183637|UMLS:CN200570
MONDO:0003979	intrahepatic bile duct cystadenoma	biolink:Disease	mondo	NCIT:C96835|UMLS:C1334257|DOID:6733		intrahepatic bile duct cystadenoma|cystadenoma of the intrahepatic bile duct|intrahepatic bile duct mucinous cystic neoplasm	http://purl.obolibrary.org/obo/MONDO_0003979	A mucinous cystic neoplasm that arises from the intrahepatic bile ducts.	UMLS:C1334257|NCIT:C96835|DOID:6733
MONDO:0015970	rare genetic parathyroid disease and phosphocalcic metabolism disorder	biolink:Disease	mondo	Orphanet:183634|UMLS:CN200569	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0015970		ORPHA:183634|UMLS:CN200569
HGNC:7488	MT-TI	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7488		
MONDO:0003997	colon Kaposi sarcoma	biolink:Disease	mondo	UMLS:C1333091|NCIT:C5516|DOID:6804		Kaposi's sarcoma (disease) of colon|colon Kaposi's sarcoma (disease)|colon Kaposi sarcoma|colon Kaposi's sarcoma|Kaposi's sarcoma of the colon|Kaposi's sarcoma of colon|colon Kaposis sarcoma|colonic Kaposi sarcoma|colonic Kaposi's sarcoma|colonic Kaposis sarcoma	http://purl.obolibrary.org/obo/MONDO_0003997	A Kaposi sarcoma arising from the colon.	UMLS:C1333091|DOID:6804|NCIT:C5516
MONDO:0001334	hypertrichosis of eyelid	biolink:Disease	mondo	ICD10:H02.86|SCTID:79830009|DOID:11669|UMLS:C0155213|ICD9:374.54		hypertrichosis (disease) of eyelid|eyelid hypertrichosis (disease)	http://purl.obolibrary.org/obo/MONDO_0001334	A hypertrichosis (disease) that involves the eyelid.	SNOMEDCT:79830009|UMLS:C0155213|DOID:11669
MONDO:0003998	vaginal tubular adenoma	biolink:Disease	mondo	UMLS:C1519932|NCIT:C40257|DOID:6809		vaginal tubular adenoma	http://purl.obolibrary.org/obo/MONDO_0003998	An adenoma that arises from the vagina and is characterized by a tubular architectural pattern.	NCIT:C40257|DOID:6809|UMLS:C1519932
MONDO:0001333	obsolete Patau syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001333		
MONDO:0003999	juvenile pilocytic astrocytoma	biolink:Disease	mondo	NCIT:C27081|DOID:6811|UMLS:C0280783		juvenile pilocytic astrocytoma	http://purl.obolibrary.org/obo/MONDO_0003999	A pilocytic astrocytoma that occurs during adolescence.	DOID:6811|NCIT:C27081|UMLS:C0280783
MONDO:0001332	palindromic rheumatism	biolink:Disease	mondo	ICD9:719.31|ICD9:719.33|SCTID:50442003|ICD9:719.32|ICD10:M12.3|DOID:1166|MESH:C538103|ICD10:M12.30|GARD:0007304|UMLS:C0085574|ICD9:719.38|ICD9:719.30|ICD9:719.36|COHD:76196|ICD9:719.3		Hench-Rosenberg syndrome|Hench's syndrome	http://purl.obolibrary.org/obo/MONDO_0001332	A syndrome that involves sudden and rapidly developing attacks of arthritis with a remission period that results in no joint damage or symptoms.	MESH:C538103|UMLS:C0085574|SNOMEDCT:50442003|DOID:1166
MONDO:0001331	conjunctival deposit	biolink:Disease	mondo	ICD9:372.56|SCTID:62660000|UMLS:C0162280|DOID:11653|ICD10:H11.11			http://purl.obolibrary.org/obo/MONDO_0001331		UMLS:C0162280|SNOMEDCT:62660000|DOID:11653
MONDO:0003993	childhood vagina botryoid rhabdomyosarcoma	biolink:Disease	mondo	UMLS:C1332945|DOID:6787|NCIT:C35556		pediatric botryoid-type embryonal rhabdomyosarcoma of the vagina|pediatric botryoid-type embryonal rhabdomyosarcoma of the vagina|childhood botryoid-type embryonal rhabdomyosarcoma of the vagina|vaginal childhood botryoid-type embryonal rhabdomyosarcoma|childhood sarcoma Botryoides of the vagina|botryoid-type embryonal rhabdomyosarcoma of the vagina of childhood|vaginal childhood sarcoma Botryoides	http://purl.obolibrary.org/obo/MONDO_0003993	A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma.	NCIT:C35556|DOID:6787|UMLS:C1332945
MONDO:0001338	acute apical periodontitis	biolink:Disease	mondo	SCTID:718053009|COHD:132659|DOID:11693|UMLS:C4084770|ICD9:522.4|ICD10:K04.4		acute apical periodontitis of pulpal origin	http://purl.obolibrary.org/obo/MONDO_0001338		DOID:11693|SNOMEDCT:718053009|UMLS:C4084770
UBERON:0010171	strand of hair of face	biolink:AnatomicalEntity	mondo			face hair|facial hair|face hair strand|hair of face	http://purl.obolibrary.org/obo/UBERON_0010171	A strand of hair that is part of a face.	
PO:0009009	plant embryo	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PO_0009009	A whole plant (PO:0000003) that participates in the plant embryo stage (PO:0007631).	
UBERON:0010172	bulb of aorta	biolink:AnatomicalEntity	mondo			root of aorta|supraaortic valve area|aortic bulb|bulbus aortae|aorta bulb|aortic root|bulb of ascending aorta	http://purl.obolibrary.org/obo/UBERON_0010172	The portion of the left ventricular outflow tract delineated by the sinotubular ridge superiorly and the bases of the valve leaflets inferiorly; it comprises the aortic sinuses, the aortic valve leaflets, the commissures, and the interleaflet triangles	
MONDO:0003994	botryoid-type embryonal rhabdomyosarcoma of the vagina	biolink:Disease	mondo	UMLS:C1511275|DOID:6788|NCIT:C40268		sarcoma Botryoides of the vagina|botryoid rhabdomyosarcoma of vagina|vagina botryoid rhabdomyosarcoma|botryoid-type embryonal rhabdomyosarcoma of the vagina	http://purl.obolibrary.org/obo/MONDO_0003994	A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma.	NCIT:C40268|DOID:6788|UMLS:C1511275
MONDO:0001337	inflamed seborrheic keratosis	biolink:Disease	mondo	ICD9:702.11|UMLS:C0376117|COHD:40483107|ICD10:L82.0|SCTID:442348004|DOID:11685			http://purl.obolibrary.org/obo/MONDO_0001337		SNOMEDCT:442348004|DOID:11685|UMLS:C0376117
MONDO:0001336	familial hyperlipidemia	biolink:Disease	mondo	ICD10:E78.5|DOID:1168		hyperlipemia|familial hyperlipoproteinemia|familial hyperlipemia|hyperlipidaemia|hereditary hyperlipidemia (disease)	http://purl.obolibrary.org/obo/MONDO_0001336	An instance of hyperlipidemia (disease) that is caused by an inherited modification of the individual's genome.	NCIT:C34707|DOID:1168
MONDO:0003995	vulvar childhood botryoid-type embryonal rhabdomyosarcoma	biolink:Disease	mondo	NCIT:C36098|DOID:6789|UMLS:C1332946		childhood sarcoma Botryoides of the vulva|mammalian vulva childhood botryoid rhabdomyosarcoma|vulvar childhood botryoid-type embryonal rhabdomyosarcoma|childhood botryoid-type embryonal rhabdomyosarcoma of the vulva|childhood botryoid rhabdomyosarcoma of mammalian vulva	http://purl.obolibrary.org/obo/MONDO_0003995	A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vulva. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma.	DOID:6789|UMLS:C1332946|NCIT:C36098
MONDO:0001335	hypotrichosis of eyelid	biolink:Disease	mondo	DOID:11671|ICD10:H02.72|ICD9:374.55|SCTID:70738004|UMLS:C0155214		eyelid hypotrichosis	http://purl.obolibrary.org/obo/MONDO_0001335	A hypotrichosis that involves the eyelid.	SNOMEDCT:70738004|UMLS:C0155214|DOID:11671
MONDO:0003996	basal ganglia disease	biolink:Disease	mondo	ICD9:333.0|CSP:2057-3403|UMLS:C0004782|MESH:D001480|DOID:679|SCTID:70835005		collection of basal ganglia disease or disorder|disease of collection of basal ganglia|disorder of basal ganglia|basal ganglia disease|disorder of collection of basal ganglia|disorder of collection of basal ganglia|disease of basal ganglia|collection of basal ganglia disease|disease or disorder of collection of basal ganglia	http://purl.obolibrary.org/obo/MONDO_0003996	A disease involving the basal ganglia.	MESH:D001480|DOID:679|SNOMEDCT:70835005|UMLS:C0004782
HGNC:7490	MT-TL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7490		
MONDO:0003990	malignant breast myoepithelioma	biolink:Disease	mondo	UMLS:C1518167|DOID:6776|NCIT:C40395		malignant breast myoepithelioma|breast myoepithelial carcinoma|breast malignant myoepithelioma	http://purl.obolibrary.org/obo/MONDO_0003990	An invasive malignant tumor that arises from the breast. It is characterized by the presence of spindle-shaped myoepithelial cells. Mitoses are present. Rarely, local recurrences and distant metastases have been reported.	DOID:6776|UMLS:C1518167|NCIT:C40395
MONDO:0015959	obsolete inherited syndrome with bone tumors as a major feature	biolink:Disease	mondo	UMLS:CN200554|Orphanet:183527	ordo_group_of_disorders|obsoletion_candidate	genetic bone tumor	http://purl.obolibrary.org/obo/MONDO_0015959		ORPHA:183527|UMLS:CN200554
MONDO:0003991	villoglandular endometrial endometrioid adenocarcinoma	biolink:Disease	mondo	DOID:6777|NCIT:C27846|UMLS:C1336962		villoglandular endometrial endometrioid adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003991	A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of numerous finger-like villi lined by neoplastic columnar cells.	DOID:6777|NCIT:C27846|UMLS:C1336962
MONDO:0015958	obsolete rare genetic bone disease	biolink:Disease	mondo	Orphanet:183524|UMLS:CN200553	ordo_group_of_disorders|obsoletion_candidate	rare genetic bone disease	http://purl.obolibrary.org/obo/MONDO_0015958	Rare genetic bone disease.	ORPHA:183524|UMLS:CN200553
MONDO:0003992	childhood botryoid rhabdomyosarcoma	biolink:Disease	mondo	NCIT:C35574|DOID:6786|UMLS:C1332944		pediatric botryoid rhabdomyosarcoma|pediatric botryoid rhabdomyosarcoma|childhood botryoid-type embryonal rhabdomyosarcoma|botryoid-type embryonal rhabdomyosarcoma|botryoid rhabdomyosarcoma of childhood|childhood sarcoma Botryoides	http://purl.obolibrary.org/obo/MONDO_0003992	A morphologic variant of embryonal rhabdomyosarcoma occurring in children. The tumor arises from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma.	DOID:6786|NCIT:C35574|UMLS:C1332944
MONDO:0001330	presbyopia	biolink:Disease	mondo	COHD:373478|DOID:11638|MESH:D011305|ICD9:367.4|ICD10:H52.4|SCTID:41256004|UMLS:C0033075			http://purl.obolibrary.org/obo/MONDO_0001330	The normal decreasing elasticity of the crystalline lens that leads to loss of accommodation.	SNOMEDCT:41256004|MESH:D011305|UMLS:C0033075|DOID:11638
MONDO:0013301	aromatase deficiency	biolink:Disease	mondo	OMIM:613546|NCIT:C120144|MESH:C537436|ICD10:E25.8|Orphanet:91|GARD:0000365|UMLS:C1960539	gard_rare|ordo_disease	pseudohermaphroditism, female, due to placental aromatase deficiency|congenital estrogen deficiency|aromatase deficiency	http://purl.obolibrary.org/obo/MONDO_0013301	Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.	ORPHA:91|http://identifiers.org/omim/613546|NCIT:C120144|MESH:C537436|UMLS:C0878680|UMLS:C1960539
MONDO:0015964	obsolete rare genetic palpebral, lacrimal system and conjunctival disease	biolink:Disease	mondo	Orphanet:183598|UMLS:CN200563			http://purl.obolibrary.org/obo/MONDO_0015964		ORPHA:183598|UMLS:CN200563
MONDO:0013302	nephronophthisis 11	biolink:Disease	mondo	UMLS:C3150796|DOID:0111118|OMIM:613550		NPHP11|nephronophthisis type 11|nephronophthisis 11; NPHP11|nephronophthisis 11	http://purl.obolibrary.org/obo/MONDO_0013302	A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1.	http://identifiers.org/omim/613550|DOID:0111118|UMLS:C3150796
MONDO:0015963	obsolete inherited renal tumor	biolink:Disease	mondo	Orphanet:183595|UMLS:CN200562	ordo_group_of_disorders	genetic renal tumor	http://purl.obolibrary.org/obo/MONDO_0015963		ORPHA:183595|UMLS:CN200562
PO:0009010	seed	biolink:OntologyClass	mondo	PO_GIT:405	Tomato|Rice|Citrus|Poaceae|TraitNet|Arabidopsis|Gymnosperms|Maize|Angiosperm	semilla (Spanish, exact)|diaspore (broad)|種子 (Japanese, exact)|pyrene (narrow)	http://purl.obolibrary.org/obo/PO_0009010	A multi-tissue plant structure (PO:0025496) that develops from a plant ovule (PO:0020003) and has as parts a plant embryo (PO:0009009) enclosed in a seed coat (PO:0009088).	
MONDO:0015962	inherited renal tubular disease	biolink:Disease	mondo	Orphanet:183592|UMLS:CN200561	ordo_group_of_disorders	genetic renal tubular disease	http://purl.obolibrary.org/obo/MONDO_0015962		ORPHA:183592|UMLS:CN200561
MONDO:0013300	commissural facial cleft	biolink:Disease	mondo	SCTID:40159009|OMIM:613545|ICD10:Q18.4|ICD9:744.83|Orphanet:141276|MESH:D008265	ordo_morphological_anomaly	macrostomia, isolated|lateral cleft, isolated|commissural cleft, isolated|macrostomia|transverse cleft, isolated	http://purl.obolibrary.org/obo/MONDO_0013300	Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed)	ORPHA:141276|http://identifiers.org/omim/613545|MESH:D008265|SNOMEDCT:40159009
PO:0009011	plant structure	biolink:OntologyClass	mondo	PO_GIT:57	TraitNet	植物 構造 (Japanese, exact)|estructura vegetal (Spanish, exact)	http://purl.obolibrary.org/obo/PO_0009011	A plant anatomical entity (PO:0025131) that is, or was, part of a plant, or was derived from a part of a plant.	
MONDO:0015961	genetic head and neck malformation	biolink:Disease	mondo	Orphanet:183583	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015961		ORPHA:183583
MONDO:0013305	autosomal dominant nonsyndromic deafness 51	biolink:Disease	mondo	UMLS:C3160736|ICD10:H90.3|OMIM:613558|DOID:0110577		chromosome 9Q21.11 Duplication syndrome|deafness, autosomal dominant 51|DFNA51|chromosome 9q21.11 duplication syndrome|deafness, autosomal dominant type 51|deafness, autosomal dominant 51; DFNA51|autosomal dominant deafness 51|autosomal dominant nonsyndromic deafness type 51	http://purl.obolibrary.org/obo/MONDO_0013305	An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has material basis in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes.	UMLS:C3160736|http://identifiers.org/omim/613558|DOID:0110577
MONDO:0015968	rare genetic hypothalamic or pituitary disease	biolink:Disease	mondo	UMLS:CN200567|Orphanet:183628	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015968		ORPHA:183628|UMLS:CN200567
MONDO:0013306	combined oxidative phosphorylation defect type 7	biolink:Disease	mondo	OMIM:613559|Orphanet:254930|DOID:0111487|UMLS:C3150801|SCTID:763204003|ICD10:G31.8	ordo_disease	C12orf65 combined oxidative phosphorylation deficiency|C12ORF65 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency type 7|COXPD7|severe C12ORF65-related combined oxidative phosphorylation defect|severe C12ORF65-related COXPD|combined oxidative phosphorylation deficiency 7; COXPD7|combined oxidative phosphorylation deficiency caused by mutation in C12ORF65|combined oxidative phosphorylation deficiency caused by mutation in C12orf65|combined oxidative phosphorylation deficiency 7	http://purl.obolibrary.org/obo/MONDO_0013306	Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.	http://identifiers.org/omim/613559|SNOMEDCT:763204003|DOID:0111487|ORPHA:254930|UMLS:C3150801
MONDO:0015967	monogenic diabetes	biolink:Disease	mondo	Orphanet:183625	ordo_group_of_disorders	rare genetic diabetes mellitus	http://purl.obolibrary.org/obo/MONDO_0015967	Rare genetic diabetes mellitus.	ORPHA:183625
MONDO:0013303	autoimmune disease, susceptibility to, 6	biolink:Disease	mondo	OMIM:613551	predisposition	autoimmune disease, susceptibility to, type 6|autoimmune disease caused by mutation in SIAE|autoimmune disease, susceptibility to, 6; AIS6|SIAE autoimmune disease|susceptibility to autoimmune disease 6|autoimmune disease, susceptibility to, 6|AIS6	http://purl.obolibrary.org/obo/MONDO_0013303	Any autoimmune disease in which the cause of the disease is a mutation in the SIAE gene.	http://identifiers.org/omim/613551
MONDO:0015966	obsolete hereditary eye tumor	biolink:Disease	mondo	UMLS:CN200566|Orphanet:183619	ordo_group_of_disorders	genetic eye tumor	http://purl.obolibrary.org/obo/MONDO_0015966		ORPHA:183619|UMLS:CN200566
MONDO:0015965	rare genetic refraction anomaly	biolink:Disease	mondo	Orphanet:183601|UMLS:CN226813	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0015965		ORPHA:183601|UMLS:CN226813
MONDO:0013304	von Willebrand disease 2	biolink:Disease	mondo	SCTID:128107007|OMIM:613554|ICD10:D68.0|Orphanet:166081|MESH:D056728|UMLS:C1264040|DOID:0060574	ordo_clinical_subtype	von Willebrand's disease type 2|von willebrand's disease 2|VON WILLEBRAND disease, type 2; VWD2|VWD type 2|VWD2|Von Willebrand disease, type 2|Von Willebrand disease, type 2B|von Willebrand disease type 2|Von Willebrand disease, type 2A|von Willebrand disease type II|VON WILLEBRAND disease, type 2|VWD, type 2|Von Willebrand disease, type 2N|Von Willebrand disease, type 2M	http://purl.obolibrary.org/obo/MONDO_0013304	Type 2 von Willebrand disease (type 2 VWD) is a form of VWD characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF).	DOID:0060574|ORPHA:166081|http://identifiers.org/omim/613554|SNOMEDCT:128107007|MESH:D056728|UMLS:C1264040
HGNC:7493	MT-TN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7493		
MONDO:0001329	accommodative spasm	biolink:Disease	mondo	UMLS:C0152196|SCTID:30069002|ICD10:H52.53|ICD9:367.53|DOID:11637		spasm of accommodation	http://purl.obolibrary.org/obo/MONDO_0001329		DOID:11637|SNOMEDCT:30069002|UMLS:C0152196
HGNC:7495	MT-TQ	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7495		
MONDO:0001328	thyroid hormone resistance syndrome	biolink:Disease	mondo	MESH:D018382|SCTID:111567006|ICD9:259.8|UMLS:CN118820|DOID:11633		RTH|thyroid hormone resistance syndrome|thyroid hormone responsiveness defect|Refetoff syndrome|resistance to thyrotropin|resistance to thyroid stimulating hormone|generalized thyroid hormone resistance|thyroid hormone resistance|TSH resistance	http://purl.obolibrary.org/obo/MONDO_0001328	An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine.	SNOMEDCT:111567006|DOID:11633|UMLS:CN118820|MESH:D018382
HGNC:7494	MT-TP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7494		
MONDO:0015960	obsolete rare genetic developmental defect during embryogenesis	biolink:Disease	mondo	Orphanet:183530|UMLS:CN226804	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015960		ORPHA:183530|UMLS:CN226804
HGNC:7497	MT-TS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7497		
HGNC:7499	MT-TT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7499		
HGNC:7498	MT-TS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7498		
MONDO:0001301	rumination disorder	biolink:Disease	mondo	ICD9:307.53|NCIT:C92567|GARD:0007594|DOID:11507|MESH:D019959|SCTID:192014006	gard_rare	psychogenic rumination|rumination|rumination syndrome	http://purl.obolibrary.org/obo/MONDO_0001301	Rumination disorder is the backward flow of recently eaten food from the stomach to the mouth. The food is then re-chewed and swallowed or spat out. A non-purposeful contraction of stomach muscles is involved in rumination. It may be initially triggered by a viral illness, emotional distress, or physical injury. In many cases, no underlying trigger is identified. Behavioral therapy is the mainstay of treatment.	MESH:D019959|DOID:11507|SNOMEDCT:192014006|NCIT:C92567
MONDO:0003964	myositis ossificans	biolink:Disease	mondo	UMLS:C0027122|NCIT:C3253|DOID:668|MESH:D009221		fop|progressive myositis ossificans|progressive ossifying myositis|myositis ossificans progressiva|ossification - muscle|fibrodysplasia ossificans progressiva|Myisitis ossificans	http://purl.obolibrary.org/obo/MONDO_0003964	A disorder characterized by non-neoplastic bone formation in soft tissues. It usually follows blunt trauma and bleeding in the deep soft tissues.	NCIT:C3253|UMLS:C0027122|MESH:D009221|DOID:668
MONDO:0003965	Capgras syndrome	biolink:Disease	mondo	MESH:D002194|DOID:6680|NCIT:C34446		Capgras delusion theory	http://purl.obolibrary.org/obo/MONDO_0003965	A rare neuropsychiatric disorder whose primary feature is the delusion that relatives or close acquaintances are not the persons that they are known to be. Visual recognition appears intact but familiar persons are thought be imposters, that is, they appear similar or identical to known individuals but are not. Most cases are seen in the context of a psychotic state. However, if manifested post-traumatically, the cause is most likely due to neurologic impairment. This disorder should be contrasted with prosopagnosia, in which an individual may not recognize a familiar person at all.	MESH:D002194|DOID:6680|NCIT:C34446
MONDO:0001300	autonomic neuropathy	biolink:Disease	mondo	UMLS:C0259749|SCTID:277879009|CSP:2049-9000|CSP:2042-2001|NCIT:C27033|DOID:11504|DOID:0060054		autonomic nervous system peripheral neuropathy|autonomic peripheral neuropathy|peripheral neuropathy of autonomic nervous system	http://purl.obolibrary.org/obo/MONDO_0001300	An inherited or acquired peripheral neuropathy affecting the autonomic nervous system. It results in disruption of the involuntary body functions. Inherited causes include Fabry disease and porphyrias. Acquired causes include diabetes, uremia, hepatic disorders, vitamin deficiencies, toxins, and drug toxicities.	SNOMEDCT:277879009|DOID:11504|NCIT:C27033|DOID:0060054|UMLS:C0259749
MONDO:0003966	testicular monophasic choriocarcinoma	biolink:Disease	mondo	DOID:6693|NCIT:C39935|UMLS:C1515290			http://purl.obolibrary.org/obo/MONDO_0003966	A choriocarcinoma that arises from the testis and is characterized by the predominance of cytotrophoblastic and intermediate trophoblastic cells. Syncytiotrophoblastic cells are absent or not prominent.	NCIT:C39935|UMLS:C1515290|DOID:6693
MONDO:0003967	synchronous multifocal osteogenic sarcoma	biolink:Disease	mondo	NCIT:C6471|DOID:6696|UMLS:C1336544		synchronous multifocal osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0003967	A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered within 6 months of the appearance of the initial tumor. It has a poor prognosis.	NCIT:C6471|UMLS:C1336544|DOID:6696
GO:1990731	UV-damage excision repair, DNA incision	biolink:OntologyClass	mondo			DNA incision involved in alternative excision repair|DNA incision involved in UVDE-dependent excision repair|DNA incision involved in UV-damaged DNA endonuclease-dependent excision repair|nucleic acid cleavage involved in UV-damage excision repair|DNA incision involved in UVER|alternative excision repair, DNA incision|DNA incision involved in UV-damage excision repair|DNA incision involved in AER|UV-damaged DNA endonuclease-dependent excision repair, DNA incision|UVDE-dependent excision repair, DNA incision	http://purl.obolibrary.org/obo/GO_1990731	A process that results in the endonucleolytic cleavage of the damaged strand of DNA immediately 5' of a UV-induced damage site, and is the first part of a DNA repair process that acts on both cyclobutane pyrimidine dimers (CPDs) and pyrimidine-pyrimidone 6-4 photoproducts (6-4PPs).	
MONDO:0003960	pulmonary large cell neuroendocrine carcinoma	biolink:Disease	mondo	DOID:6658|NCIT:C5672|UMLS:C1334363		large cell lung carcinoma with neuroendocrine differentiation|large cell lung neuroendocrine carcinoma|large cell neuroendocrine carcinoma of lung|large cell neuroendocrine carcinoma of the lung|lung large cell neuroendocrine carcinoma|LCNEC of the lung|pulmonary large cell neuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0003960	A large cell neuroendocrine carcinoma that involves the lung(s).	NCIT:C5672|UMLS:C1334363|DOID:6658
MONDO:0001305	laryngostenosis	biolink:Disease	mondo	COHD:24974|SCTID:75547007|ICD10:J38.6|UMLS:C0023075|ICD9:478.74|DOID:11527|HP:0001602|MESH:D007829		stenosis of larynx	http://purl.obolibrary.org/obo/MONDO_0001305	Narrowing of the laryngeal airway.	MESH:D007829|DOID:11527|SNOMEDCT:75547007|NCIT:C79608|UMLS:C0023075
UBERON:0010160	lumen of lymphatic vessel	biolink:AnatomicalEntity	mondo			lumen of lymphatic duct|lymphatic vessel lumen	http://purl.obolibrary.org/obo/UBERON_0010160	An anatomical cavity that surrounded_by a lymphatic vessel.	
MONDO:0001304	benign hypertensive renal disease	biolink:Disease	mondo	SCTID:193003|DOID:11520|ICD9:403.10|ICD9:403.1|UMLS:C0155596|COHD:193493		hypertensive renal disease, benign|hypertensive renal disease, benign, without mention of renal failure	http://purl.obolibrary.org/obo/MONDO_0001304		UMLS:C0155596|SNOMEDCT:193003|DOID:11520
MONDO:0003961	obsolete cervical large cell neuroendocrine carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003961		
UBERON:0010161	lumen of blood vessel	biolink:AnatomicalEntity	mondo			blood vessel lumen	http://purl.obolibrary.org/obo/UBERON_0010161	An anatomical cavity that surrounded_by a blood vessel.	
MONDO:0003962	Froelich syndrome	biolink:Disease	mondo	ICD9:253.8|GARD:0006463|SCTID:62999006|DOID:6676|ICD10:E23.6|NCIT:C34625	gard_rare	Babinski-Froelich syndrome|Froehlich syndrome|sexual infantilism|adiposogenital dystrophy|Fröhlich syndrome|Frolich's syndrome|hypothalamic infantilism-obesity|Froelich's adiposity|Frohlich's syndrome|Froelich's syndrome|dystrophia Adiposogenitalis|Frohlich syndrome|Launois-Cleret syndrome|Froehlich's syndrome|Adiposodysgenesis|adiposogenital syndrome	http://purl.obolibrary.org/obo/MONDO_0003962	Froelich syndrome is characterized by obesity and hypogonadism due to a hypothalamic-pituitary disorder. The hypothalamus is a part of the brain where certain functions such as sleep cycles and body temperature are regulated. The pituitary is a gland that makes hormones that affect growth and the functions of other glands in the body. Froehlich syndrome is acquired(i.e., not thought to be inherited or genetic). This syndrome appears to affect males more commonly. The term 'Froelich syndrome' is rarely used today.	DOID:6676|SNOMEDCT:62999006|NCIT:C34625
MONDO:0001303	abnormal pupillary function (disease)	biolink:Disease	mondo	ICD10:H57.09|HP:0007686|ICD9:379.49|COHD:437295|SCTID:72124005|DOID:11518|ICD9:379.40		abnormal pupillary function	http://purl.obolibrary.org/obo/MONDO_0001303		DOID:11518|SNOMEDCT:72124005
MONDO:0003963	diffuse infiltrative lymphocytosis syndrome	biolink:Disease	mondo	NCIT:C35699|UMLS:C1333292|SCTID:449784008|DOID:6677		diffuse infiltra. lymph. syndrome|diffuse infiltra. lymph. sydrome	http://purl.obolibrary.org/obo/MONDO_0003963	This is usually an oligoclonal CD8+ lymphocytic infiltration of various organs.	UMLS:C1333292|NCIT:C35699|DOID:6677|SNOMEDCT:449784008
MONDO:0001302	hypertensive heart disease	biolink:Disease	mondo	ICD9:402|SCTID:64715009|ICD10:I11|COHD:442604|ICD9:402.9|DOID:11516|NCIT:C4907|ICD10:I11.9|UMLS:C0152105		hypertensive cardiomegaly|hypertensive cardiovascular disease|hypertensive heart disease|hypertensive cardiopathy	http://purl.obolibrary.org/obo/MONDO_0001302	Abnormal enlargement of the heart resulting from long-standing hypertension.	SNOMEDCT:64715009|DOID:11516|UMLS:C0152105|NCIT:C4907
UBERON:0010164	collection of hairs	biolink:AnatomicalEntity	mondo			set of hairs|pili|hairs set|hairs	http://purl.obolibrary.org/obo/UBERON_0010164	An anatomical cluster that composed_primarily_of a strand of hair.	
MONDO:0015949	obsolete rare genetic subcutaneous tissue disorder	biolink:Disease	mondo	UMLS:CN200546|Orphanet:183484	obsoletion_candidate|ordo_group_of_disorders	genetic subcutaneous tissue disorder	http://purl.obolibrary.org/obo/MONDO_0015949		ORPHA:183484|UMLS:CN200546
UBERON:0010165	collection of hair on face	biolink:AnatomicalEntity	mondo			set of facial hairs|facial hair|facial hairs set	http://purl.obolibrary.org/obo/UBERON_0010165	A collection of hairs that is part of a face.	
MONDO:0015948	obsolete rare genetic skin vascular disorder	biolink:Disease	mondo	UMLS:CN200545|Orphanet:183478	ordo_group_of_disorders|obsoletion_candidate	genetic skin vascular disorder	http://purl.obolibrary.org/obo/MONDO_0015948		ORPHA:183478|UMLS:CN200545
UBERON:0010162	post-anal tail tip	biolink:AnatomicalEntity	mondo			end of tail|tail tip	http://purl.obolibrary.org/obo/UBERON_0010162	The distal end of the tail	
MONDO:0015947	inherited ichthyosis	biolink:Disease	mondo	MedDRA:10021202|Orphanet:183435|SCTID:13059002|ICD10:Q80|ICD9:757.1|COHD:134743	ordo_group_of_disorders	congenital ichthyosis|fish scale disease|ichthyosis congenita|congenital ichthyosis of skin|genetic ichthyosis|inherited genetic ichthyosis|hereditary ichthyosis (disease)|fish skin	http://purl.obolibrary.org/obo/MONDO_0015947	An instance of ichthyosis (disease) that is caused by an inherited modification of the individual's genome.	ORPHA:183435|UMLS:C0856562|SNOMEDCT:13059002|MEDDRA:10021202
UBERON:0010167	beard	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010167	The collection of hair that grows on the chin, cheeks and neck of human beings. Usually, only pubescent or adult males are able to grow beards. However, women with hirsutism may develop a beard. When differentiating between upper and lower facial hair, a beard specifically includes the moustache, which refers to hair above the upper lip and around it.	
MONDO:0015953	genetic central nervous system and retinal vascular disease	biolink:Disease	mondo	Orphanet:183503|UMLS:CN200550	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015953		ORPHA:183503|UMLS:CN200550
MONDO:0015952	obsolete genetic neurodegenerative disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015952		
MONDO:0015951	hereditary photodermatosis	biolink:Disease	mondo	Orphanet:183490	ordo_group_of_disorders	genetic skin photosensitivity|genetic photosensitivity|photogenodermatosis|photogénodermatose	http://purl.obolibrary.org/obo/MONDO_0015951	Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies.	ORPHA:183490
MONDO:0015950	inherited skin tumor	biolink:Disease	mondo	UMLS:CN200547|Orphanet:183487	ordo_group_of_disorders	genetic skin tumor	http://purl.obolibrary.org/obo/MONDO_0015950		ORPHA:183487|UMLS:CN200547
MONDO:0015957	obsolete rare genetic movement disorder	biolink:Disease	mondo	Orphanet:183521|UMLS:CN226803	ordo_group_of_disorders|obsoletion_candidate	rare genetic movement disorder	http://purl.obolibrary.org/obo/MONDO_0015957	Rare genetic movement disorder.	ORPHA:183521|UMLS:CN226803
MONDO:0015956	obsolete rare hereditary ataxia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015956	Rare hereditary ataxia.	
MONDO:0015955	obsolete rare genetic epilepsy	biolink:Disease	mondo	Orphanet:183512|UMLS:CN226802	ordo_group_of_disorders|obsoletion_candidate	rare genetic epilepsy	http://purl.obolibrary.org/obo/MONDO_0015955	A form of epilepsy that is both rare and inborn.	ORPHA:183512|UMLS:CN226802
MONDO:0015954	obsolete rare genetic headache disorder	biolink:Disease	mondo	Orphanet:183509|UMLS:CN226801	obsoletion_candidate|ordo_group_of_disorders	rare genetic headache	http://purl.obolibrary.org/obo/MONDO_0015954		ORPHA:183509|UMLS:CN226801
PO:0009007	portion of plant tissue	biolink:OntologyClass	mondo	PO_GIT:59	reference|TraitNet	plant tissue (related)|portion of tissue (broad)|tissue (broad)|porci&#243n de un tejido vegetal (Spanish, exact)|植物組織の一部 (Japanese, exact)	http://purl.obolibrary.org/obo/PO_0009007	A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types.	
PO:0009008	plant organ	biolink:OntologyClass	mondo	PO_GIT:55	TraitNet	植物 器官 (Japanese, exact)|compound plant organ (related)|organ (broad)|simple plant organ (related)|&#243rgano vegetal (Spanish, exact)	http://purl.obolibrary.org/obo/PO_0009008	A multi-tissue plant structure (PO:0025496) that is a functional unit, is a proper part of a whole plant (PO:0000003), and includes portions of plant tissue (PO:0009007) of at least two different types that derive from a common developmental path.	
PO:0009001	fruit	biolink:OntologyClass	mondo	PO_GIT:76	Rice|Poaceae|TraitNet|Arabidopsis|Maize|Angiosperm	syncarp (narrow)|dehiscent fruit  (broad)|coenocarp (narrow)|compound fruit  (broad)|aggregate fruit  (broad)|果実 (exact, Japanese)|multiple fruit  (broad)|propagule  (broad)|frucht (exact, German)|fruto (exact, Spanish)|indehiscent fruit  (broad)|diaspore  (broad)	http://purl.obolibrary.org/obo/PO_0009001	A multi-tissue plant structure (PO:0025496) that develops from a gynoecium (PO:0009062), or a single carpel (PO:0009030), and at maturity may have as parts one or more seeds (PO:0009010).	
MONDO:0003957	adult pineoblastoma	biolink:Disease	mondo	NCIT:C8292|UMLS:C0281332|DOID:6648		adult pineoblastoma|pineoblastoma of adults|pineoblastoma	http://purl.obolibrary.org/obo/MONDO_0003957	A pineoblastoma occurring in adults.	DOID:6648|NCIT:C8292|UMLS:C0281332
MONDO:0003958	childhood central nervous system immature teratoma	biolink:Disease	mondo	DOID:6654|NCIT:C27405|UMLS:C1332954		pediatric central nervous system immature teratoma|childhood central nervous system immature teratoma|pediatric central nervous system immature teratoma|central nervous system immature teratoma of childhood	http://purl.obolibrary.org/obo/MONDO_0003958	An immature teratoma that arises from the central nervous system and occurs during childhood.	NCIT:C27405|DOID:6654|UMLS:C1332954
MONDO:0003959	breast large cell neuroendocrine carcinoma	biolink:Disease	mondo	NCIT:C40356|UMLS:C1511316|DOID:6657		breast large cell neuroendocrine carcinoma|large cell neuroendocrine carcinoma of breast	http://purl.obolibrary.org/obo/MONDO_0003959	A poorly differentiated neuroendocrine carcinoma that arises from the breast. It is characterized by the presence of large neuroendocrine cells and high mitotic activity.	UMLS:C1511316|NCIT:C40356|DOID:6657
MONDO:0001312	acute serous otitis media	biolink:Disease	mondo	COHD:375827|ICD10:H65.00|SCTID:194240006|ICD10:H65.0|ICD9:381.01|DOID:11557|UMLS:C0155415		acute non-suppurative otitis media - serous	http://purl.obolibrary.org/obo/MONDO_0001312	A acute transudative otitis media with thin, watery and sterile effusion.	DOID:11557|SNOMEDCT:194240006|UMLS:C0155415
MONDO:0003975	Littre gland carcinoma	biolink:Disease	mondo	NCIT:C39865|UMLS:C1516285|DOID:6721		male urethral gland carcinoma|carcinoma of LittrC) glands|carcinoma of Littre glands|carcinoma of Littré glands|carcinoma of male urethral gland	http://purl.obolibrary.org/obo/MONDO_0003975	A carcinoma involving a male urethral gland.	NCIT:C39865|UMLS:C1516285|DOID:6721
MONDO:0003976	malignant type AB thymoma	biolink:Disease	mondo	ICDO:8582/3|NCIT:C6886|UMLS:C1266093|DOID:6723		thymoma, mixed type, malignant|thymoma type AB, malignant|malignant thymoma type AB|malignant type AB thymoma	http://purl.obolibrary.org/obo/MONDO_0003976	A type AB thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize.	NCIT:C6886|DOID:6723|UMLS:C1266093
MONDO:0001311	obsolete Chandler syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001311		
MONDO:0001310	Bowman's membrane folds or rupture	biolink:Disease	mondo	DOID:11552|SCTID:45382000|UMLS:C0155115|ICD9:371.31|ICD10:H18.31		folds and/or rupture of bowman's membrane|Bowman membrane folds or rupture	http://purl.obolibrary.org/obo/MONDO_0001310		SNOMEDCT:45382000|UMLS:C0155115|DOID:11552
MONDO:0003977	obsolete fibrillary astrocytoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003977		
MONDO:0003978	colon small cell neuroendocrine carcinoma	biolink:Disease	mondo	NCIT:C6761|UMLS:C1333099|DOID:6727		small cell carcinoma of the colon|small cell carcinoma of colon|colon small cell neuroendocrine cancer|small cell colon carcinoma|Oat cell carcinoma of the colon|Oat cell carcinoma of colon|colonic Oat cell carcinoma|colon small cell neuroendocrine carcinoma|colonic small cell carcinoma|colon small cell carcinoma|colon Oat cell carcinoma|Oat cell colon carcinoma	http://purl.obolibrary.org/obo/MONDO_0003978	An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the colon. It is characterized by the presence of malignant small cells.	NCIT:C6761|UMLS:C1333099|DOID:6727
MONDO:0001316	streptococcal meningitis	biolink:Disease	mondo	UMLS:C0154639|DOID:11574|COHD:440390|ICD9:320.2|ICD10:G00.2|SCTID:4510004		Streptococcus infectious meningitis|Streptococcus caused infectious meningitis	http://purl.obolibrary.org/obo/MONDO_0001316	An infectious meningitis caused by infection with Streptococcus.	DOID:11574|UMLS:C0154639|SNOMEDCT:4510004
MONDO:0003971	gastric pylorus carcinoma	biolink:Disease	mondo	DOID:6703|NCIT:C6795|UMLS:C1333787		gastric pylorus cancer|gastric pylorus carcinoma|cancer of the pylorus of the stomach|cancer of pylorus of stomach|carcinoma of pylorus of stomach|carcinoma of the pylorus of the stomach|gastric pylorus (stomach) cancer|carcinoma of the gastric pylorus|carcinoma of gastric pylorus|cancer of the gastric pylorus|cancer of gastric pylorus	http://purl.obolibrary.org/obo/MONDO_0003971	A carcinoma that arises from the pylorus.	UMLS:C1333787|DOID:6703|NCIT:C6795
MONDO:0001315	neurocirculatory asthenia	biolink:Disease	mondo	COHD:433177|SCTID:191962000|ICD9:306.2|MESH:D009449|DOID:11569		Krishaber's disease|cardiovascular malfunction arising from mental factors|Da Costa's syndrome|cardiovascular neurosis	http://purl.obolibrary.org/obo/MONDO_0001315	A clinical syndrome characterized by palpitation, shortness of breath, labored breathing, subjective complaints of effort and discomfort, all following slight physical exertion. Other symptoms may be dizziness, tremulousness, sweating, and insomnia. Neurocirculatory asthenia is most typically seen as a form of anxiety disorder.	DOID:11569|SNOMEDCT:191962000|MESH:D009449
MONDO:0003972	gastric body carcinoma	biolink:Disease	mondo	DOID:6705|UMLS:C0345804|SCTID:254557000|NCIT:C8399		cancer of gastric body|carcinoma of gastric body|cancer of the gastric body|carcinoma of the gastric body|cancer of body of stomach|carcinoma of the body of the stomach|cancer of the body of the stomach|gastric body (stomach) cancer|carcinoma of body of stomach|body of stomach carcinoma|gastric body carcinoma|gastric body cancer	http://purl.obolibrary.org/obo/MONDO_0003972	A carcinoma that arises from epithelial cells of the body of stomach.	DOID:6705|UMLS:C0345804|NCIT:C8399|SNOMEDCT:254557000
UBERON:0010150	duct of major vestibular gland	biolink:AnatomicalEntity	mondo			greater vestibular gland duct|Bartholin's duct|duct of greater vestibular gland	http://purl.obolibrary.org/obo/UBERON_0010150	One of a pair of ducts leading from the Bartholin's glands to the surface of the vulva	
MONDO:0001314	chondrocalcinosis	biolink:Disease	mondo	ICD9:275.49|HP:0000934|SCTID:239832006|COHD:437064|MESH:D002805|DOID:1156|NCIT:C34955|ICD9:712.1		pseudogout|calcium pyrophosphate deposition disease	http://purl.obolibrary.org/obo/MONDO_0001314	An acute episode of pain, swelling, and redness, sometimes associated with fever. It is caused by the deposition of calcium pyrophosphate crystals in the joints.	MESH:D002805|SNOMEDCT:239832006|NCIT:C34955|DOID:1156
MONDO:0003973	tubular variant testicular seminoma	biolink:Disease	mondo	DOID:6706|NCIT:C40959|UMLS:C1515294		testicular seminoma, tubular variant	http://purl.obolibrary.org/obo/MONDO_0003973	A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in tubular patterns and few lymphocytes.	UMLS:C1515294|DOID:6706|NCIT:C40959
MONDO:0001313	acute allergic serous otitis media	biolink:Disease	mondo	ICD9:381.04|COHD:373784|UMLS:C0155418|SCTID:59275002|DOID:11558			http://purl.obolibrary.org/obo/MONDO_0001313	A acute serous otitis media caused by an allergen.	DOID:11558|SNOMEDCT:59275002|UMLS:C0155418
MONDO:0003974	obsolete malignant triton tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003974		
MONDO:0015939	systemic autoimmune disease	biolink:Disease	mondo	Orphanet:182228|UMLS:CN200529	ordo_group_of_disorders	autoimmune systemic disease	http://purl.obolibrary.org/obo/MONDO_0015939	An autoimmune form of systemic disease.	UMLS:CN200529|ORPHA:182228
MONDO:0015938	systemic disease	biolink:Disease	mondo	SCTID:281867008|ICD9:799.89|Orphanet:182222|NCIT:C9229|UMLS:C0442893	ordo_group_of_disorders	multi-system disorder|multisystem disorder|rare systemic disease|systemic disorder	http://purl.obolibrary.org/obo/MONDO_0015938	A systemic disease is one that affects a number of organs and tissues, or affects the body as a whole.	SNOMEDCT:281867008|UMLS:C0442893|ORPHA:182222|NCIT:C9229
UBERON:0010151	duct of bulbourethral gland	biolink:AnatomicalEntity	mondo			bulbourethral gland duct|duct of bulbo-urethral gland|ductus glandulae bulbourethralis	http://purl.obolibrary.org/obo/UBERON_0010151	A duct that is part of a bulbo-urethral gland.	
MONDO:0015937	rare inflammatory eye disease	biolink:Disease	mondo	UMLS:CN200527|Orphanet:182214	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0015937		ORPHA:182214|UMLS:CN200527
UBERON:0010152	skin mucus	biolink:AnatomicalEntity	mondo			epidermal mucus|skin mucous	http://purl.obolibrary.org/obo/UBERON_0010152	A mucous secretion that is produced by glands in the epidermis.	
MONDO:0003970	gastric fundus carcinoma	biolink:Disease	mondo	UMLS:C0345799|NCIT:C8398|DOID:6700|SCTID:254555008		carcinoma of the fundus of the stomach|cancer of fundus of stomach|carcinoma of fundus of stomach|cancer of gastric fundus|fundus of stomach carcinoma|cancer of the gastric fundus|Gastric fundus cancer|carcinoma of gastric fundus|gastric fundus (stomach) cancer|cancer of the fundus of the stomach|carcinoma of the gastric fundus	http://purl.obolibrary.org/obo/MONDO_0003970	A carcinoma that arises from epithelial cells of the fundus of stomach.	UMLS:C0345799|DOID:6700|NCIT:C8398|SNOMEDCT:254555008
MONDO:0015936	obsolete rare tumor of endocrine glands	biolink:Disease	mondo	Orphanet:182130	obsoletion_candidate|ordo_group_of_disorders	endocrine gland rare tumor|tumor of endocrine glands	http://purl.obolibrary.org/obo/MONDO_0015936	A rare tumor that involves the endocrine gland.	ORPHA:182130
MONDO:0015942	frontometaphyseal dysplasia	biolink:Disease	mondo	ICD9:759.89|DOID:0111785|MESH:C538064|SCTID:62803002|OMIMPS:305620|DC:0000731|Orphanet:1826|ICD10:Q78.5|GARD:0000826	ordo_disease|prototype_pattern	FMD|frontometaphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0015942	Frontometaphyseal dysplasia (FMD) belongs to the otopalatodigital syndrome spectrum disorder and is characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss.	SNOMEDCT:62803002|MESH:C538064|ORPHA:1826|DOID:0111785
MONDO:0015941	epiphyseal dysplasia-hearing loss-dysmorphism syndrome	biolink:Disease	mondo	SCTID:766870005|Orphanet:1825|UMLS:CN200532|GARD:0002178|ICD10:Q87.0	gard_rare|ordo_malformation_syndrome	Finucane-Kurtz-Scott syndrome|Finucane Kurtz Scott syndrome|epiphyseal dysplasia hearing loss dysmorphism	http://purl.obolibrary.org/obo/MONDO_0015941	Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992.	UMLS:CN200532|ORPHA:1825|SNOMEDCT:766870005
MONDO:0015940	obsolete rare rheumatologic disease	biolink:Disease	mondo	UMLS:CN200530|Orphanet:182231	obsoletion_candidate|ordo_group_of_disorders	rare rheumatologic disorder|rare rheumatological disease	http://purl.obolibrary.org/obo/MONDO_0015940	Any of the forms of rheumatologic disorder that have a rare incidence.	ORPHA:182231|UMLS:CN200530
MONDO:0015946	obsolete rare genetic epidermal disorder	biolink:Disease	mondo	Orphanet:183426|UMLS:CN200542	ordo_group_of_disorders|obsoletion_candidate	genetic epidermal disorder	http://purl.obolibrary.org/obo/MONDO_0015946		ORPHA:183426|UMLS:CN200542
MONDO:0015945	polymalformative genetic syndrome with increased risk of developing cancer	biolink:Disease	mondo	Orphanet:183422|UMLS:CN200541	ordo_group_of_disorders	PGSIRC	http://purl.obolibrary.org/obo/MONDO_0015945	Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases.	ORPHA:183422|UMLS:CN200541
MONDO:0015944	axial mesodermal dysplasia spectrum	biolink:Disease	mondo	UMLS:C2931613|MESH:C537790|ICD10:Q87.8|Orphanet:1834|SCTID:765755006|GARD:0000213	ordo_malformation_syndrome|gard_rare	blastogenesis defect|Russell-Weaver-Bull syndrome|Russell Weaver Bull syndrome	http://purl.obolibrary.org/obo/MONDO_0015944	Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula.	SNOMEDCT:765755006|UMLS:C2931613|MESH:C537790|ORPHA:1834
MONDO:0015943	eosinophilic granulomatosis with polyangiitis	biolink:Disease	mondo	GARD:0005776|GARD:0006111|ICD10:M30.1|MESH:D015267|DOID:3049|Orphanet:183|UMLS:C0008728|NCIT:C34481|EFO:0007208|MedDRA:10048594|SCTID:82275008	ordo_disease	vasculitis, Churg Strauss|allergic Granulomatoses|angiitis, granulomatous allergic|vasculitis, eosinophilic granulomatous|granulomatous angiitis, allergic|granulomatous allergic Angiitides|Vasculitides, eosinophilic granulomatous|Angiitides, granulomatous allergic|granulomatous Angiitides, allergic|allergic granulomatosis|allergic granulomatous and angiitis|allergic granulomatous angiitis|angiitis, allergic|Angiitides, allergic|granulomatous allergic angiitis|Granulomatoses, allergic|Churg-Strauss vasculitis|EGPA|allergic granulomatosis angiitis|allergic Angiitides, granulomatous|Churg-Strauss syndrome|allergic angiitis, granulomatous|angiitis, allergic granulomatous|syndrome, Churg-Strauss|Churg Strauss syndrome|Angiitides, allergic granulomatous|allergic angiitis and granulomatosis|granulomatosis, allergic|granulomatous vasculitis, eosinophilic|eosinophilic granulomatous vasculitis|granulomatous Vasculitides, eosinophilic|eosinophilic granulomatous Vasculitides|allergic granulomatous Angiitides|vasculitis, Churg-Strauss|allergic angiitis|allergic Angiitides	http://purl.obolibrary.org/obo/MONDO_0015943	Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia.	MESH:D015267|SNOMEDCT:82275008|MESH:C531653|ORPHA:183|MEDDRA:10048594|NCIT:C34481|DOID:3049|UMLS:C0008728
MONDO:0001309	oculomotor nerve paralysis	biolink:Disease	mondo	NCIT:C27597|Orphanet:98685|UMLS:C0028866|DOID:11550|ICD10:H49.0|SCTID:388980004	ordo_group_of_disorders	third cranial nerve paralysis|third cranial nerve paralysis, NOS|oculomotor nerve paralysis|III nerve palsy|IIIrd nerve paralysis|cranial nerve palsy of oculomotor nerve|oculomotor palsy|oculomotor nerve cranial nerve palsy	http://purl.obolibrary.org/obo/MONDO_0001309	Paralysis of the oculomotor nerve.	NCIT:C27597|DOID:11550|UMLS:C0028866|ORPHA:98685|SNOMEDCT:388980004
MONDO:0001308	corneal deposit	biolink:Disease	mondo	DOID:11547|ICD10:H18.00|SCTID:74460005|ICD9:371.10|COHD:377288|ICD10:H18.0|UMLS:C0162281		deposits - cornea	http://purl.obolibrary.org/obo/MONDO_0001308		DOID:11547|SNOMEDCT:74460005|UMLS:C0162281
GO:1990748	cellular detoxification	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1990748	Any process carried out at the cellular level that reduces or removes the toxicity of a toxic substance. These may include transport of the toxic substance away from sensitive areas and to compartments or complexes whose purpose is sequestration of the toxic substance.	
MONDO:0001307	corneal abscess	biolink:Disease	mondo	DOID:11543|NCIT:C26969|ICD9:370.55|ICD10:H16.31|SCTID:64366002|UMLS:C0155091			http://purl.obolibrary.org/obo/MONDO_0001307	An abscess of the cornea.	SNOMEDCT:64366002|UMLS:C0155091|DOID:11543|NCIT:C26969
MONDO:0001306	recurrent corneal erosion	biolink:Disease	mondo	HP:0000495|DOID:11541|UMLS:C0155119|COHD:374946|SCTID:2055003|ICD9:371.42|ICD10:H18.83		recurrent erosion syndrome|recurrent erosion of cornea	http://purl.obolibrary.org/obo/MONDO_0001306		UMLS:C0155119|DOID:11541|SNOMEDCT:2055003
MONDO:0003968	asynchronous multifocal osteogenic sarcoma	biolink:Disease	mondo	DOID:6697|UMLS:C1332342|NCIT:C6472		asynchronous multifocal osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0003968	A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered between 6 and 24 months after the appearance of the initial tumor. Patients with asynchronous tumors have a better prognosis than those with synchronous osteosarcomas.	NCIT:C6472|DOID:6697|UMLS:C1332342
MONDO:0003969	amphetamine abuse	biolink:Disease	mondo	ICD9:305.7|SCTID:84758004|DOID:670|ICD9:305.70|MESH:D019969|COHD:432878			http://purl.obolibrary.org/obo/MONDO_0003969	Disorders related or resulting from use of amphetamines.	MESH:D019969|SNOMEDCT:84758004|DOID:670
GO:0001654	eye development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0001654	The process whose specific outcome is the progression of the eye over time, from its formation to the mature structure. The eye is the organ of sight.	
HGNC:237	ADCY6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/237		
HGNC:236	ADCY5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/236		
HGNC:232	ADCY1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/232		
CHEBI:27594	carbon atom	biolink:ChemicalSubstance	mondo			carbonium|C|carbono|carbon|Carbon|6C|Kohlenstoff|carbon|carbone	http://purl.obolibrary.org/obo/CHEBI_27594		
HP:0000929	Abnormal skull morphology	biolink:PhenotypicFeature	mondo	UMLS:C0235942		Abnormality of the skull|Abnormality of the skull bones	http://purl.obolibrary.org/obo/HP_0000929	An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones.	
GO:0001667	ameboidal-type cell migration	biolink:OntologyClass	mondo			ameboid cell migration|amoeboidal cell migration|amoeboid cell migration	http://purl.obolibrary.org/obo/GO_0001667	Cell migration that is accomplished by extension and retraction of a pseudopodium.	
GO:0098573	intrinsic component of mitochondrial membrane	biolink:OntologyClass	mondo			intrinsic to mitochondrial membrane	http://purl.obolibrary.org/obo/GO_0098573	The component of the mitochondrial membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane.	
HGNC:245	ADD3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/245		
HGNC:243	ADD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/243		
HP:0000925	Abnormality of the vertebral column	biolink:PhenotypicFeature	mondo	UMLS:C4020882|UMLS:C4021789	hposlim_core	Abnormal spine|Abnormality of the spine|Abnormality of the vertebral column|Abnormality of the backbone|Abnormal vertebral column	http://purl.obolibrary.org/obo/HP_0000925	Any abnormality of the vertebral column.	
HP:0000924	Abnormality of the skeletal system	biolink:PhenotypicFeature	mondo	UMLS:C4021790		Skeletal abnormalities|Skeletal anomalies|Abnormality of the skeletal system	http://purl.obolibrary.org/obo/HP_0000924	An abnormality of the skeletal system.	
HP:0000927	Abnormality of skeletal maturation	biolink:PhenotypicFeature	mondo	UMLS:C4025818		Abnormality of skeletal maturation	http://purl.obolibrary.org/obo/HP_0000927	The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation.	
HP:0000926	Platyspondyly	biolink:PhenotypicFeature	mondo	UMLS:C1844704	hposlim_core	Flattened vertebral bodies|Flat vertebral bodies|Flattened vertebrae	http://purl.obolibrary.org/obo/HP_0000926	A flattened vertebral body shape with reduced distance between the vertebral endplates.	
HGNC:218	ADAMTS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/218		
HGNC:216	ADAM9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/216		
GO:0098542	defense response to other organism	biolink:OntologyClass	mondo			defence response to pathogen, incompatible interaction|defence response incompatible interaction|resistance response to pathogen|defense response, incompatible interaction	http://purl.obolibrary.org/obo/GO_0098542	Reactions triggered in response to the presence of another organism that act to protect the cell or organism from damage caused by that organism.	
CHEBI:27573	silicon atom	biolink:ChemicalSubstance	mondo			Si|silicio|silicon|silicium|Silicon|silicon|Silizium|14Si	http://purl.obolibrary.org/obo/CHEBI_27573		
HGNC:225	ADAR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/225		
GO:0001649	osteoblast differentiation	biolink:OntologyClass	mondo			osteoblast cell differentiation	http://purl.obolibrary.org/obo/GO_0001649	The process whereby a relatively unspecialized cell acquires the specialized features of an osteoblast, a mesodermal or neural crest cell that gives rise to bone.	
MONDO:0003900	connective tissue disease	biolink:Disease	mondo	MESH:D003240|SCTID:105969002|NCIT:C26729|DOID:65|UMLS:C0009782|COHD:253549		connective tissue disease or disorder|tissue disease, connective|primary disorder of connective tissue|connective tissue diseases|disease of connective tissue|connective tissue disorder|connective tissue disorders|disease, connective tissue|disorder of connective tissue|disorder of connective tissue|connective tissue disease|disease or disorder of connective tissue	http://purl.obolibrary.org/obo/MONDO_0003900	A disease involving the connective tissue.	SNOMEDCT:105969002|UMLS:C0009782|NCIT:C26729|MESH:D003240|DOID:65
MONDO:0003901	cerebellar hemangioblastoma	biolink:Disease	mondo	NCIT:C5146|DOID:6500|UMLS:C1332900		angioblastoma of cerebellum|cerebellar angioblastoma|cerebellum hemangioblastoma|hemangioblastoma of the cerebellum|angioblastoma of the cerebellum|cerebellar hemangioblastoma|hemangioblastoma of cerebellum|cerebellar capillary hemangioblastoma	http://purl.obolibrary.org/obo/MONDO_0003901	A histologically benign tumor, usually cystic with a vascular mural nodule, that is most often found in the cerebellum though it has been reported at other sites within the neuraxis. It is associated with von Hippel-Lindau disease (VHL gene located on chr 3p25-26).	DOID:6500|UMLS:C1332900|NCIT:C5146
HP:0000953	Hyperpigmentation of the skin	biolink:PhenotypicFeature	mondo	MSH:D017495|UMLS:C0162834|SNOMEDCT_US:4830009|SNOMEDCT_US:49765009		Increased skin pigmentation|Melanodermia|Cutaneous hyperpigmentation|Patchy darkened skin|Hyperpigmented lesion|Melanoderma|Skin hyperpigmentation	http://purl.obolibrary.org/obo/HP_0000953	A darkening of the skin related to an increase in melanin production and deposition.	
UBERON:0009117	indifferent gonad	biolink:AnatomicalEntity	mondo			gonad rudiment	http://purl.obolibrary.org/obo/UBERON_0009117	A gonad prior to differentiating into a definitive testis or ovary.	
HP:0000952	Jaundice	biolink:PhenotypicFeature	mondo	MSH:D007565|SNOMEDCT_US:18165001|UMLS:C0022346		Yellowing of the skin|Yellow skin|Icterus|Jaundice	http://purl.obolibrary.org/obo/HP_0000952	Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.	
HP:0000951	Abnormality of the skin	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:199879009|UMLS:C0037268|SNOMEDCT_US:95320005|MSH:D012868|UMLS:C0037274|MSH:D012871	hposlim_core	dermatopathy|Abnormality of the skin|dermopathy|Skin abnormality	http://purl.obolibrary.org/obo/HP_0000951	An abnormality of the skin.	
UBERON:0009114	cervical thymus	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009114	A mature thymus that is entirely part of the cervical region.	
UBERON:0009115	thoracic thymus	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009115	A mature thymus that is entirely part of thoracic region.	
MONDO:0003910	mixed cell uveal melanoma	biolink:Disease	mondo	NCIT:C35781|UMLS:C1334782|DOID:6522|EFO:1000380		mixed cell uveal melanoma	http://purl.obolibrary.org/obo/MONDO_0003910	A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells.	NCIT:C35781|UMLS:C1334782|DOID:6522
MONDO:0003911	ciliary body mixed cell melanoma	biolink:Disease	mondo	DOID:6523|UMLS:C1333051|NCIT:C35783		ciliary body mixed cell melanoma|mixed cell uveal melanoma of ciliary body|ciliary body mixed cell uveal melanoma	http://purl.obolibrary.org/obo/MONDO_0003911	A mixed cell uveal melanoma that involves the ciliary body.	DOID:6523|NCIT:C35783|UMLS:C1333051
MONDO:0003912	malignant ciliary body melanoma	biolink:Disease	mondo	ICD9:190.8|DOID:6524|NCIT:C4558|SCTID:255015006|UMLS:C0346379		malignant melanoma of ciliary body|ciliary body melanoma (disease)|melanoma (disease) of ciliary body|malignant melanoma of the ciliary body|melanoma of ciliary body|ciliary body malignant melanoma|melanoma of the ciliary body|ciliary body melanoma	http://purl.obolibrary.org/obo/MONDO_0003912	A rare uveal melanoma that arises from the ciliary body. Patients may present with blurred vision, visual field loss, floaters, and ocular pain. The prognosis is usually poor.	DOID:6524|SNOMEDCT:255015006|NCIT:C4558|UMLS:C0346379
HP:0000964	Eczema	biolink:PhenotypicFeature	mondo	MSH:D004485|UMLS:C0013595|SNOMEDCT_US:281104002|SNOMEDCT_US:43116000		Eczema	http://purl.obolibrary.org/obo/HP_0000964	Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding.	
HP:0000967	Petechiae	biolink:PhenotypicFeature	mondo	MSH:D011693|SNOMEDCT_US:50091001|SNOMEDCT_US:271813007|MEDDRA:10034754|UMLS:C0031256	hposlim_core		http://purl.obolibrary.org/obo/HP_0000967	Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.	
HP:0000966	Hypohidrosis	biolink:PhenotypicFeature	mondo	MSH:D007007|SNOMEDCT_US:45004005|MEDDRA:10021013|UMLS:C0020620	hposlim_core	Sweating, decreased|Inadequate sweating|Decreased ability to sweat|Oligohidrosis|Decreased sweating	http://purl.obolibrary.org/obo/HP_0000966	Abnormally diminished capacity to sweat.	
HP:0000969	Edema	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:423666004|MSH:D004487|SNOMEDCT_US:20741006|SNOMEDCT_US:79654002|UMLS:C0013604|SNOMEDCT_US:267038008		Dropsy|Water retention|Oedema|Hydrops|Fluid retention	http://purl.obolibrary.org/obo/HP_0000969	An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.	
HGNC:7414	MT-ATP6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7414		
HGNC:7419	MT-CO1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7419		
HP:0000962	Hyperkeratosis	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:396228006|SNOMEDCT_US:26996000|UMLS:C0870082|MEDDRA:10020649|SNOMEDCT_US:399955009	hposlim_core		http://purl.obolibrary.org/obo/HP_0000962	Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.	
MONDO:0003906	ovarian yolk sac tumor, hepatoid pattern	biolink:Disease	mondo	DOID:6512|UMLS:C1518748|NCIT:C39989		hepatoid pattern ovarian yolk sac tumor|ovarian yolk Sac tumor, hepatoid pattern	http://purl.obolibrary.org/obo/MONDO_0003906	A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into hepatic tissue.	DOID:6512|UMLS:C1518748|NCIT:C39989
MONDO:0003907	ovarian yolk sac tumor, polyvesicular vitelline pattern	biolink:Disease	mondo	DOID:6514|UMLS:C1518749|NCIT:C39987		ovarian yolk sac tumor, polyvesicular vitelline pattern|polyvesicular vitelline pattern ovarian yolk sac tumor	http://purl.obolibrary.org/obo/MONDO_0003907	A yolk sac tumor that arises from the ovary and is characterized by the presence of multiple dilated spaces lined by cells that resemble mesothelial cells. The dilated spaces coexist with columnar epithelial tissues.	DOID:6514|UMLS:C1518749|NCIT:C39987
MONDO:0003908	clivus meningioma	biolink:Disease	mondo	UMLS:C1333073|DOID:6517|NCIT:C5289		meningioma of the clivus|meningioma of clivus|clivus of occipital bone meningioma (disease)|meningioma (disease) of clivus of occipital bone	http://purl.obolibrary.org/obo/MONDO_0003908	A meningioma that affects the clivus.	UMLS:C1333073|DOID:6517|NCIT:C5289
MONDO:0003909	Bartholin gland adenomyoma	biolink:Disease	mondo	DOID:6518|NCIT:C40300|UMLS:C1511049		adenomyoma of major vestibular gland|Bartholin gland adenomyoma|major vestibular gland adenomyoma	http://purl.obolibrary.org/obo/MONDO_0003909	A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of a fibromuscular stroma and glands lined by mucin-secreting epithelial cells, arranged in a lobular architecture.	NCIT:C40300|DOID:6518|UMLS:C1511049
MONDO:0003902	brain stem hemangioblastoma	biolink:Disease	mondo	UMLS:C1332611|DOID:6501|NCIT:C5147		angioblastoma of brainstem|brainstem angioblastoma|hemangioblastoma of brainstem|brain stem hemangioblastoma|angioblastoma of brain stem|brain stem capillary hemangioblastoma|hemangioblastoma of brain stem|brainstem hemangioblastoma|hemangioblastoma of the brain stem|angioblastoma of the brain stem|brain stem angioblastoma|hemangioblastoma of the brainstem|angioblastoma of the brainstem	http://purl.obolibrary.org/obo/MONDO_0003902	A hemangioblastoma that involves the brainstem.	DOID:6501|UMLS:C1332611|NCIT:C5147
MONDO:0003903	benign vaginal mixed tumor	biolink:Disease	mondo	DOID:6505|UMLS:C1511107|NCIT:C40280		vaginal spindle cell epithelioma|benign vaginal mixed tumor	http://purl.obolibrary.org/obo/MONDO_0003903	A non-metastasizing, well circumscribed neoplasm that arises from the vagina and is characterized by the presence of a predominant benign mesenchymal component and benign glandular or squamous epithelial cells.	NCIT:C40280|DOID:6505|UMLS:C1511107
MONDO:0003904	lung occult squamous cell carcinoma	biolink:Disease	mondo	NCIT:C6686|UMLS:C1335100|DOID:6510		occult squamous cell lung carcinoma|occult squamous cell carcinoma of the lung|occult squamous cell carcinoma of lung	http://purl.obolibrary.org/obo/MONDO_0003904	A squamous cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed.	DOID:6510|NCIT:C6686|UMLS:C1335100
MONDO:0003905	ovarian yolk sac tumor, glandular pattern	biolink:Disease	mondo	DOID:6511|UMLS:C1518747|NCIT:C39988		ovarian yolk Sac tumor, glandular pattern|glandular pattern ovarian yolk sac tumor	http://purl.obolibrary.org/obo/MONDO_0003905	A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into endodermal type glandular structures.	DOID:6511|UMLS:C1518747|NCIT:C39988
HP:0000939	Osteoporosis	biolink:PhenotypicFeature	mondo	MSH:D010024|SNOMEDCT_US:64859006|UMLS:C0029456			http://purl.obolibrary.org/obo/HP_0000939	Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).	
GO:0098588	bounding membrane of organelle	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0098588	The lipid bilayer that forms the outer-most layer of an organelle.	
HP:0000932	Abnormal posterior cranial fossa morphology	biolink:PhenotypicFeature	mondo	UMLS:C3280768		Abnormality of the posterior cranial fossa|Posterior fossa anomaly|Abnormality of the posterior fossa	http://purl.obolibrary.org/obo/HP_0000932	An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum.	
HGNC:7427	MT-CYB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7427		
HGNC:7422	MT-CO3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7422		
GO:0098589		biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0098589		
HGNC:7421	MT-CO2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7421		
GO:0098590	plasma membrane region	biolink:OntologyClass	mondo			region of plasma membrane	http://purl.obolibrary.org/obo/GO_0098590	A membrane that is a (regional) part of the plasma membrane.	
HP:0000944	Abnormality of the metaphysis	biolink:PhenotypicFeature	mondo	UMLS:C4025814		Abnormality of the wide portion of a long bone	http://purl.obolibrary.org/obo/HP_0000944	An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.	
HGNC:7436	MTHFR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7436		
HP:0000940	Abnormal diaphysis morphology	biolink:PhenotypicFeature	mondo	UMLS:C4021787		Abnormality of the diaphyses|Abnormality involving the diaphyses of the limbs|Anomaly of the limb diaphyses|Anomaly of the limb diaphyses morphology|Abnormal shape of shaft of long bone|Abnormality of shaft of long bone of the limbs	http://purl.obolibrary.org/obo/HP_0000940	An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone.	
HGNC:7432	MTHFD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7432		
CL:0000240	stratified squamous epithelial cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000240		
CL:0000242	Merkel cell	biolink:Cell	mondo	FMA:70548		Merkel's cell	http://purl.obolibrary.org/obo/CL_0000242	A modified epidermal cell located in the stratum basale. They are found mostly in areas where sensory perception is acute. Merkel cells are closely associated with an expanded terminal bulb of an afferent myelinated nerve fiber.	
CL:0000243	obsolete glial cell (sensu Vertebrata)	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000243	A non-neuronal cell of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu. Form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons. Neuroglia have high-affinity transmitter uptake systems, voltage-dependent and transmitter-gated ion channels, and can release transmitters, but their role in signaling (as in many other functions) is unclear.	
CL:0000244	transitional epithelial cell	biolink:Cell	mondo	FMA:66778			http://purl.obolibrary.org/obo/CL_0000244	A cell characteristically found lining hollow organs that are subject to great mechanical change due to contraction and distention; originally thought to represent a transition between stratified squamous and columnar epithelium.	
GO:1904729	regulation of intestinal lipid absorption	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1904729	Any process that modulates the frequency, rate or extent of intestinal lipid absorption.	
CL:0000255	eukaryotic cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000255		
ENVO:01000216	montane shrubland biome	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000216	A montane shrubland biome is a shrubland biome which occurs in regions elevated above sea level and which has community structure determined by elevation-dependent environmental conditions.	
CL:0000226	single nucleate cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000226	A cell with a single nucleus.	
ENVO:01000219	anthropogenic terrestrial biome	biolink:OntologyClass	mondo			human biome|anthrome	http://purl.obolibrary.org/obo/ENVO_01000219	An anthropogenic terrestrial biome is a terrestrial biome which has community structures determined by human activity.	
GO:1904731	positive regulation of intestinal lipid absorption	biolink:OntologyClass	mondo			upregulation of intestinal lipid absorption|up-regulation of intestinal lipid absorption|up regulation of intestinal lipid absorption|activation of intestinal lipid absorption	http://purl.obolibrary.org/obo/GO_1904731	Any process that activates or increases the frequency, rate or extent of intestinal lipid absorption.	
GO:1904730	negative regulation of intestinal lipid absorption	biolink:OntologyClass	mondo			down-regulation of intestinal lipid absorption|down regulation of intestinal lipid absorption|inhibition of intestinal lipid absorption|downregulation of intestinal lipid absorption	http://purl.obolibrary.org/obo/GO_1904730	Any process that stops, prevents or reduces the frequency, rate or extent of intestinal lipid absorption.	
ECTO:7000045	exposure to stellar radiation	biolink:OntologyClass	mondo			stellar radiation exposure	http://purl.obolibrary.org/obo/ECTO_7000045	A exposure event involving the interaction of an exposure receptor to stellar radiation.	
MONDO:0025397	canine distemper	biolink:Disease	mondo	MESH:D004216		Distempers|canine Distempers|distemper, canine|canine distemper|Distempers, canine	http://purl.obolibrary.org/obo/MONDO_0025397	A viral disease caused by canine distemper virus that affects a wide variety of animal families, including domestic and wild species of dogs, coyotes, foxes, pandas, wolves, ferrets, skunks, raccoons, and large cats, as well as pinnipeds, some primates, and a variety of other species.	MESH:D004216
HGNC:291	ADSL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/291		
CL:0000221	ectodermal cell	biolink:Cell	mondo	FMA:72549		ectoderm cell	http://purl.obolibrary.org/obo/CL_0000221	A cell of the outer of the three germ layers of the embryo.	
CL:0000222	mesodermal cell	biolink:Cell	mondo	FMA:72554		mesoblast|mesoderm cell	http://purl.obolibrary.org/obo/CL_0000222	A cell of the middle germ layer of the embryo.	
CL:0000223	endodermal cell	biolink:Cell	mondo	FMA:72555		endoderm cell	http://purl.obolibrary.org/obo/CL_0000223	A cell of the inner of the three germ layers of the embryo.	
CL:0000225	anucleate cell	biolink:Cell	mondo	FMA:68647		non-nucleated cell	http://purl.obolibrary.org/obo/CL_0000225	A cell that lacks a nucleus.	
MONDO:0025389	brucellosis, bovine	biolink:Disease	mondo	MESH:D002007		disease, bang|Bangs disease|Brucelloses, bovine|disease, bang's|bang disease|bovine Brucelloses|bang's disease|bovine brucellosis	http://purl.obolibrary.org/obo/MONDO_0025389	A disease of cattle caused by bacteria of the genus brucella leading to abortion in late pregnancy. brucella abortus is the primary infective agent.	MESH:D002007
ENVO:01000203	environmental condition	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000203	An environmental condition is a range of a determinate quality or combination of qualities that are present in an environmental system.	
GO:1904748	regulation of apoptotic process involved in development	biolink:OntologyClass	mondo			regulation of commitment to apoptosis involved in development of an anatomical structure|regulation of apoptosis involved in development of an anatomical structure|regulation of apoptotic cell death involved in anatomical structure development|regulation of activation of apoptosis involved in development of an anatomical structure|regulation of apoptosis involved in anatomical structure development|regulation of commitment to apoptosis involved in anatomical structure development|regulation of programmed cell death by apoptosis involved in development of an anatomical structure|regulation of apoptotic programmed cell death involved in development of an anatomical structure|regulation of type I programmed cell death involved in development of an anatomical structure|regulation of apoptotic program involved in development of an anatomical structure|regulation of induction of apoptosis by p53 involved in development of an anatomical structure|regulation of activation of apoptosis involved in anatomical structure development|regulation of apoptotic process involved in development of an anatomical structure|regulation of induction of apoptosis involved in development of an anatomical structure|regulation of apoptosis activator activity involved in development of an anatomical structure|regulation of apoptotic programmed cell death involved in anatomical structure development|regulation of programmed cell death by apoptosis involved in anatomical structure development|regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|regulation of induction of apoptosis by p53 involved in anatomical structure development|regulation of apoptotic process involved in anatomical structure development|regulation of type I programmed cell death involved in anatomical structure development|regulation of apoptotic program involved in anatomical structure development|regulation of apoptosis activator activity involved in anatomical structure development|regulation of apoptosis signaling involved in development of an anatomical structure|regulation of induction of apoptosis involved in anatomical structure development|regulation of apoptotic cell death involved in development of an anatomical structure|regulation of signaling (initiator) caspase activity involved in anatomical structure development|regulation of apoptosis signaling involved in anatomical structure development	http://purl.obolibrary.org/obo/GO_1904748	Any process that modulates the frequency, rate or extent of apoptotic process involved in development.	
GO:1904747	positive regulation of apoptotic process involved in development	biolink:OntologyClass	mondo			upregulation of type I programmed cell death involved in development of an anatomical structure|up regulation of apoptotic process involved in development of an anatomical structure|positive regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|upregulation of apoptotic process involved in development|up regulation of activation of apoptosis involved in anatomical structure development|positive regulation of type I programmed cell death involved in anatomical structure development|up regulation of induction of apoptosis by p53 involved in development of an anatomical structure|up regulation of apoptotic program involved in development of an anatomical structure|up regulation of apoptotic cell death involved in development of an anatomical structure|positive regulation of apoptotic programmed cell death involved in anatomical structure development|upregulation of induction of apoptosis involved in development of an anatomical structure|positive regulation of induction of apoptosis involved in anatomical structure development|activation of type I programmed cell death involved in development of an anatomical structure|positive regulation of apoptosis activator activity involved in anatomical structure development|upregulation of apoptosis activator activity involved in development of an anatomical structure|positive regulation of apoptotic process involved in anatomical structure development|positive regulation of induction of apoptosis by p53 involved in anatomical structure development|up-regulation of apoptotic cell death involved in anatomical structure development|positive regulation of apoptotic program involved in anatomical structure development|up regulation of signaling (initiator) caspase activity involved in anatomical structure development|up-regulation of apoptotic programmed cell death involved in development of an anatomical structure|up-regulation of apoptosis involved in anatomical structure development|up-regulation of commitment to apoptosis involved in anatomical structure development|activation of apoptosis activator activity involved in development of an anatomical structure|activation of induction of apoptosis involved in development of an anatomical structure|activation of apoptosis signaling involved in anatomical structure development|positive regulation of apoptosis signaling involved in development of an anatomical structure|up-regulation of activation of apoptosis involved in anatomical structure development|up-regulation of apoptotic process involved in development of an anatomical structure|activation of apoptotic programmed cell death involved in development of an anatomical structure|up regulation of apoptotic programmed cell death involved in anatomical structure development|activation of apoptotic cell death involved in development of an anatomical structure|upregulation of apoptosis signaling involved in anatomical structure development|up-regulation of apoptotic program involved in development of an anatomical structure|up-regulation of induction of apoptosis by p53 involved in development of an anatomical structure|positive regulation of apoptotic cell death involved in development of an anatomical structure|upregulation of programmed cell death by apoptosis involved in anatomical structure development|activation of commitment to apoptosis involved in development of an anatomical structure|upregulation of signaling (initiator) caspase activity involved in development of an anatomical structure|up regulation of induction of apoptosis by p53 involved in anatomical structure development|up regulation of apoptotic program involved in anatomical structure development|activation of apoptotic process involved in development of an anatomical structure|positive regulation of signaling (initiator) caspase activity involved in anatomical structure development|activation of apoptosis involved in development of an anatomical structure|up regulation of apoptotic process involved in anatomical structure development|upregulation of type I programmed cell death involved in anatomical structure development|activation of activation of apoptosis involved in development of an anatomical structure|up regulation of apoptosis signaling involved in development of an anatomical structure|activation of type I programmed cell death involved in anatomical structure development|upregulation of commitment to apoptosis involved in development of an anatomical structure|upregulation of apoptosis involved in development of an anatomical structure|up regulation of apoptotic cell death involved in anatomical structure development|activation of signaling (initiator) caspase activity involved in development of an anatomical structure|upregulation of induction of apoptosis involved in anatomical structure development|upregulation of apoptosis activator activity involved in anatomical structure development|up-regulation of apoptotic programmed cell death involved in anatomical structure development|activation of induction of apoptosis involved in anatomical structure development|activation of apoptosis activator activity involved in anatomical structure development|upregulation of activation of apoptosis involved in development of an anatomical structure|up-regulation of programmed cell death by apoptosis involved in development of an anatomical structure|up-regulation of type I programmed cell death involved in development of an anatomical structure|up-regulation of apoptotic process involved in anatomical structure development|up-regulation of apoptotic program involved in anatomical structure development|activation of apoptotic cell death involved in anatomical structure development|upregulation of apoptotic cell death involved in development of an anatomical structure|up-regulation of apoptotic process involved in development|activation of apoptotic programmed cell death involved in anatomical structure development|positive regulation of apoptosis signaling involved in anatomical structure development|up-regulation of induction of apoptosis by p53 involved in anatomical structure development|positive regulation of apoptotic cell death involved in anatomical structure development|activation of apoptotic process involved in anatomical structure development|upregulation of signaling (initiator) caspase activity involved in anatomical structure development|up-regulation of induction of apoptosis involved in development of an anatomical structure|activation of commitment to apoptosis involved in anatomical structure development|activation of apoptosis involved in anatomical structure development|up-regulation of apoptosis signaling involved in development of an anatomical structure|up-regulation of apoptosis activator activity involved in development of an anatomical structure|positive regulation of commitment to apoptosis involved in development of an anatomical structure|upregulation of apoptotic programmed cell death involved in development of an anatomical structure|activation of signaling (initiator) caspase activity involved in anatomical structure development|activation of activation of apoptosis involved in anatomical structure development|up regulation of apoptosis signaling involved in anatomical structure development|upregulation of commitment to apoptosis involved in anatomical structure development|up regulation of programmed cell death by apoptosis involved in development of an anatomical structure|activation of induction of apoptosis by p53 involved in development of an anatomical structure|positive regulation of apoptosis involved in development of an anatomical structure|upregulation of apoptosis involved in anatomical structure development|activation of apoptotic program involved in development of an anatomical structure|upregulation of apoptotic program involved in development of an anatomical structure|upregulation of induction of apoptosis by p53 involved in development of an anatomical structure|positive regulation of activation of apoptosis involved in development of an anatomical structure|upregulation of activation of apoptosis involved in anatomical structure development|up regulation of type I programmed cell death involved in development of an anatomical structure|up-regulation of programmed cell death by apoptosis involved in anatomical structure development|upregulation of apoptotic process involved in development of an anatomical structure|up regulation of apoptotic process involved in development|up regulation of commitment to apoptosis involved in development of an anatomical structure|up-regulation of type I programmed cell death involved in anatomical structure development|up regulation of apoptosis activator activity involved in development of an anatomical structure|up regulation of induction of apoptosis involved in development of an anatomical structure|up-regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|up regulation of apoptosis involved in development of an anatomical structure|upregulation of apoptotic cell death involved in anatomical structure development|activation of programmed cell death by apoptosis involved in development of an anatomical structure|positive regulation of programmed cell death by apoptosis involved in development of an anatomical structure|up-regulation of apoptosis activator activity involved in anatomical structure development|up regulation of activation of apoptosis involved in development of an anatomical structure|positive regulation of type I programmed cell death involved in development of an anatomical structure|up-regulation of apoptosis signaling involved in anatomical structure development|activation of apoptotic process involved in development|up-regulation of induction of apoptosis involved in anatomical structure development|up regulation of programmed cell death by apoptosis involved in anatomical structure development|positive regulation of apoptotic programmed cell death involved in development of an anatomical structure|activation of apoptotic program involved in anatomical structure development|positive regulation of commitment to apoptosis involved in anatomical structure development|upregulation of apoptotic programmed cell death involved in anatomical structure development|positive regulation of apoptosis activator activity involved in development of an anatomical structure|positive regulation of apoptosis involved in anatomical structure development|activation of induction of apoptosis by p53 involved in anatomical structure development|positive regulation of induction of apoptosis involved in development of an anatomical structure|upregulation of apoptotic process involved in anatomical structure development|up regulation of type I programmed cell death involved in anatomical structure development|positive regulation of apoptotic program involved in development of an anatomical structure|positive regulation of induction of apoptosis by p53 involved in development of an anatomical structure|up-regulation of commitment to apoptosis involved in development of an anatomical structure|upregulation of induction of apoptosis by p53 involved in anatomical structure development|up-regulation of apoptotic cell death involved in development of an anatomical structure|up regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|up-regulation of apoptosis involved in development of an anatomical structure|upregulation of apoptotic program involved in anatomical structure development|activation of apoptosis signaling involved in development of an anatomical structure|positive regulation of activation of apoptosis involved in anatomical structure development|positive regulation of apoptotic process involved in development of an anatomical structure|up regulation of apoptosis activator activity involved in anatomical structure development|upregulation of apoptosis signaling involved in development of an anatomical structure|upregulation of programmed cell death by apoptosis involved in development of an anatomical structure|up-regulation of activation of apoptosis involved in development of an anatomical structure|up regulation of apoptotic programmed cell death involved in development of an anatomical structure|activation of programmed cell death by apoptosis involved in anatomical structure development|up regulation of commitment to apoptosis involved in anatomical structure development|positive regulation of programmed cell death by apoptosis involved in anatomical structure development|up regulation of apoptosis involved in anatomical structure development|up regulation of induction of apoptosis involved in anatomical structure development|up-regulation of signaling (initiator) caspase activity involved in anatomical structure development	http://purl.obolibrary.org/obo/GO_1904747	Any process that activates or increases the frequency, rate or extent of apoptotic process involved in development.	
MONDO:0025381	avian leukosis	biolink:Disease	mondo	UMLS:C0004421|MESH:D001353		leukosis, Avian|Avian Leukoses|leukoses, Avian	http://purl.obolibrary.org/obo/MONDO_0025381	A group of transmissible viral diseases of chickens and turkeys. Liver tumors are found in most forms, but tumors can be found elsewhere.	MESH:D001353|UMLS:C0004421
ECTO:7000058	exposure to gaseous environmental material	biolink:OntologyClass	mondo			gaseous environmental material exposure	http://purl.obolibrary.org/obo/ECTO_7000058	A exposure event involving the interaction of an exposure receptor to gaseous environmental material.	
CL:0000237	keratinizing barrier epithelial cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000237		
GO:1904746	negative regulation of apoptotic process involved in development	biolink:OntologyClass	mondo			down-regulation of type I programmed cell death involved in development of an anatomical structure|down-regulation of apoptotic process involved in development|down regulation of apoptosis signaling involved in anatomical structure development|inhibition of signaling (initiator) caspase activity involved in development of an anatomical structure|negative regulation of type I programmed cell death involved in development of an anatomical structure|inhibition of type I programmed cell death involved in anatomical structure development|negative regulation of induction of apoptosis involved in development of an anatomical structure|inhibition of induction of apoptosis involved in anatomical structure development|inhibition of apoptosis activator activity involved in anatomical structure development|down-regulation of apoptosis activator activity involved in development of an anatomical structure|negative regulation of apoptosis activator activity involved in development of an anatomical structure|down-regulation of induction of apoptosis involved in development of an anatomical structure|inhibition of apoptotic program involved in anatomical structure development|down regulation of commitment to apoptosis involved in development of an anatomical structure|downregulation of commitment to apoptosis involved in anatomical structure development|down regulation of programmed cell death by apoptosis involved in development of an anatomical structure|down regulation of apoptosis involved in development of an anatomical structure|downregulation of apoptotic cell death involved in anatomical structure development|downregulation of apoptotic programmed cell death involved in development of an anatomical structure|downregulation of apoptosis involved in anatomical structure development|inhibition of induction of apoptosis by p53 involved in anatomical structure development|inhibition of apoptotic cell death involved in anatomical structure development|down regulation of activation of apoptosis involved in development of an anatomical structure|negative regulation of programmed cell death by apoptosis involved in anatomical structure development|downregulation of apoptotic process involved in development of an anatomical structure|down-regulation of programmed cell death by apoptosis involved in anatomical structure development|downregulation of apoptotic program involved in development of an anatomical structure|down-regulation of apoptosis signaling involved in anatomical structure development|downregulation of induction of apoptosis by p53 involved in development of an anatomical structure|downregulation of activation of apoptosis involved in anatomical structure development|inhibition of apoptosis signaling involved in development of an anatomical structure|down regulation of type I programmed cell death involved in development of an anatomical structure|down regulation of apoptotic process involved in development|negative regulation of apoptosis signaling involved in anatomical structure development|negative regulation of type I programmed cell death involved in anatomical structure development|inhibition of signaling (initiator) caspase activity involved in anatomical structure development|down-regulation of type I programmed cell death involved in anatomical structure development|negative regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|down-regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|down regulation of apoptosis activator activity involved in development of an anatomical structure|down regulation of induction of apoptosis involved in development of an anatomical structure|negative regulation of apoptosis activator activity involved in anatomical structure development|down-regulation of apoptosis activator activity involved in anatomical structure development|negative regulation of apoptosis involved in development of an anatomical structure|down-regulation of commitment to apoptosis involved in development of an anatomical structure|negative regulation of induction of apoptosis involved in anatomical structure development|down-regulation of apoptosis involved in development of an anatomical structure|negative regulation of commitment to apoptosis involved in development of an anatomical structure|down-regulation of induction of apoptosis involved in anatomical structure development|down regulation of commitment to apoptosis involved in anatomical structure development|down regulation of programmed cell death by apoptosis involved in anatomical structure development|inhibition of programmed cell death by apoptosis involved in development of an anatomical structure|down regulation of apoptotic programmed cell death involved in development of an anatomical structure|downregulation of programmed cell death by apoptosis involved in development of an anatomical structure|down-regulation of activation of apoptosis involved in development of an anatomical structure|down regulation of apoptosis involved in anatomical structure development|negative regulation of activation of apoptosis involved in development of an anatomical structure|downregulation of apoptotic programmed cell death involved in anatomical structure development|downregulation of induction of apoptosis by p53 involved in anatomical structure development|down regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|down regulation of activation of apoptosis involved in anatomical structure development|down regulation of type I programmed cell death involved in anatomical structure development|downregulation of apoptotic process involved in anatomical structure development|down regulation of apoptotic program involved in development of an anatomical structure|down regulation of apoptotic process involved in development of an anatomical structure|negative regulation of apoptotic cell death involved in development of an anatomical structure|inhibition of apoptotic process involved in development|downregulation of apoptotic process involved in development|down regulation of induction of apoptosis by p53 involved in development of an anatomical structure|inhibition of apoptosis signaling involved in anatomical structure development|downregulation of type I programmed cell death involved in development of an anatomical structure|downregulation of apoptotic program involved in anatomical structure development|down-regulation of apoptotic cell death involved in development of an anatomical structure|down regulation of apoptosis activator activity involved in anatomical structure development|downregulation of apoptosis signaling involved in development of an anatomical structure|inhibition of apoptotic programmed cell death involved in development of an anatomical structure|down regulation of induction of apoptosis involved in anatomical structure development|negative regulation of signaling (initiator) caspase activity involved in anatomical structure development|down-regulation of signaling (initiator) caspase activity involved in anatomical structure development|downregulation of apoptosis activator activity involved in development of an anatomical structure|downregulation of induction of apoptosis involved in development of an anatomical structure|inhibition of apoptosis involved in development of an anatomical structure|inhibition of apoptotic process involved in development of an anatomical structure|negative regulation of apoptotic programmed cell death involved in development of an anatomical structure|negative regulation of apoptosis involved in anatomical structure development|down-regulation of commitment to apoptosis involved in anatomical structure development|down-regulation of apoptosis involved in anatomical structure development|inhibition of commitment to apoptosis involved in development of an anatomical structure|negative regulation of commitment to apoptosis involved in anatomical structure development|down-regulation of apoptotic programmed cell death involved in development of an anatomical structure|down regulation of apoptotic cell death involved in development of an anatomical structure|down-regulation of apoptotic process involved in development of an anatomical structure|negative regulation of activation of apoptosis involved in anatomical structure development|down-regulation of apoptotic program involved in development of an anatomical structure|down regulation of apoptotic programmed cell death involved in anatomical structure development|down-regulation of induction of apoptosis by p53 involved in development of an anatomical structure|inhibition of activation of apoptosis involved in development of an anatomical structure|negative regulation of apoptotic process involved in development of an anatomical structure|down-regulation of activation of apoptosis involved in anatomical structure development|negative regulation of induction of apoptosis by p53 involved in development of an anatomical structure|negative regulation of apoptotic program involved in development of an anatomical structure|downregulation of programmed cell death by apoptosis involved in anatomical structure development|inhibition of programmed cell death by apoptosis involved in anatomical structure development|downregulation of signaling (initiator) caspase activity involved in development of an anatomical structure|down regulation of induction of apoptosis by p53 involved in anatomical structure development|negative regulation of apoptotic cell death involved in anatomical structure development|down regulation of apoptotic program involved in anatomical structure development|down-regulation of apoptotic cell death involved in anatomical structure development|downregulation of type I programmed cell death involved in anatomical structure development|down regulation of apoptotic process involved in anatomical structure development|down regulation of signaling (initiator) caspase activity involved in anatomical structure development|down regulation of apoptosis signaling involved in development of an anatomical structure|inhibition of apoptotic programmed cell death involved in anatomical structure development|inhibition of type I programmed cell death involved in development of an anatomical structure|downregulation of induction of apoptosis involved in anatomical structure development|downregulation of apoptosis signaling involved in anatomical structure development|downregulation of apoptosis activator activity involved in anatomical structure development|negative regulation of apoptotic programmed cell death involved in anatomical structure development|inhibition of commitment to apoptosis involved in anatomical structure development|inhibition of apoptotic process involved in anatomical structure development|inhibition of apoptosis involved in anatomical structure development|inhibition of induction of apoptosis involved in development of an anatomical structure|inhibition of apoptosis activator activity involved in development of an anatomical structure|down-regulation of apoptotic programmed cell death involved in anatomical structure development|inhibition of activation of apoptosis involved in anatomical structure development|negative regulation of apoptotic program involved in anatomical structure development|downregulation of apoptotic cell death involved in development of an anatomical structure|inhibition of induction of apoptosis by p53 involved in development of an anatomical structure|down-regulation of induction of apoptosis by p53 involved in anatomical structure development|down regulation of apoptotic cell death involved in anatomical structure development|downregulation of commitment to apoptosis involved in development of an anatomical structure|negative regulation of apoptotic process involved in anatomical structure development|negative regulation of induction of apoptosis by p53 involved in anatomical structure development|downregulation of apoptosis involved in development of an anatomical structure|down-regulation of apoptotic program involved in anatomical structure development|inhibition of apoptotic program involved in development of an anatomical structure|inhibition of apoptotic cell death involved in development of an anatomical structure|down-regulation of apoptotic process involved in anatomical structure development|downregulation of activation of apoptosis involved in development of an anatomical structure|down-regulation of programmed cell death by apoptosis involved in development of an anatomical structure|downregulation of signaling (initiator) caspase activity involved in anatomical structure development|negative regulation of apoptosis signaling involved in development of an anatomical structure|down-regulation of apoptosis signaling involved in development of an anatomical structure|negative regulation of programmed cell death by apoptosis involved in development of an anatomical structure	http://purl.obolibrary.org/obo/GO_1904746	Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic process involved in development.	
MONDO:0025382	sarcoma, avian	biolink:Disease	mondo	MESH:D001357		Avian sarcoma|sarcoma, Rous|Rous sarcoma|Avian sarcomas|sarcomas, Avian	http://purl.obolibrary.org/obo/MONDO_0025382	Connective tissue tumors, affecting primarily fowl, that are usually caused by avian sarcoma viruses.	MESH:D001357
MONDO:0025385	bluetongue	biolink:Disease	mondo	UMLS:C0005866|MESH:D001819		tongue, blue|blue tongue	http://purl.obolibrary.org/obo/MONDO_0025385	A reovirus infection, chiefly of sheep, characterized by a swollen blue tongue, catarrhal inflammation of upper respiratory and gastrointestinal tracts, and often by inflammation of sensitive laminae of the feet and coronet.	UMLS:C0005866|MESH:D001819
ECTO:7000063	exposure to liquid water	biolink:OntologyClass	mondo			liquid water exposure	http://purl.obolibrary.org/obo/ECTO_7000063	A exposure event involving the interaction of an exposure receptor to liquid water.	
CL:0000232	erythrocyte	biolink:Cell	mondo	FMA:81100|CALOHA:TS-0290|BTO:0000424		red blood cell|RBC	http://purl.obolibrary.org/obo/CL_0000232	A red blood cell. In mammals, mature erythrocytes are biconcave disks containing hemoglobin whose function is to transport oxygen.	
ECTO:7000064	exposure to air	biolink:OntologyClass	mondo			air exposure	http://purl.obolibrary.org/obo/ECTO_7000064	A exposure event involving the interaction of an exposure receptor to air.	
CHEBI:132233	1-phenylpropan-2-amine	biolink:ChemicalSubstance	mondo			1-phenylpropan-2-amine	http://purl.obolibrary.org/obo/CHEBI_132233	A primary amine that is isopropylamine in which a hydrogen attached to one of the methyl groups has been replaced by a phenyl group.	
CL:0000233	platelet	biolink:Cell	mondo	CALOHA:TS-0803|FMA:62851|BTO:0000132		enucleate thrombocyte|anucleate thrombocyte|blood platelet	http://purl.obolibrary.org/obo/CL_0000233	A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation.	
CL:0000234	phagocyte	biolink:Cell	mondo	FMA:83806|BTO:0001044			http://purl.obolibrary.org/obo/CL_0000234	Any cell capable of ingesting particulate matter via phagocytosis.	
CL:0000235	macrophage	biolink:Cell	mondo	FMA:83585|CALOHA:TS-0587|FMA:63261|BTO:0000801		histiocyte	http://purl.obolibrary.org/obo/CL_0000235	A mononuclear phagocyte present in variety of tissues, typically differentiated from monocytes, capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells.	
CL:0000236	B cell	biolink:Cell	mondo	BTO:0000776|CALOHA:TS-0068|FMA:62869|VHOG:0001480		B-lymphocyte|B-cell|B lymphocyte	http://purl.obolibrary.org/obo/CL_0000236	A lymphocyte of B lineage that is capable of B cell mediated immunity.	
GO:0001578	microtubule bundle formation	biolink:OntologyClass	mondo			microtubule bundling	http://purl.obolibrary.org/obo/GO_0001578	A process that results in a parallel arrangement of microtubules.	
ECTO:7000069	exposure to organic material	biolink:OntologyClass	mondo			organic material exposure	http://purl.obolibrary.org/obo/ECTO_7000069	A exposure event involving the interaction of an exposure receptor to organic material.	
GO:0001570	vasculogenesis	biolink:OntologyClass	mondo			vascular morphogenesis	http://purl.obolibrary.org/obo/GO_0001570	The differentiation of endothelial cells from progenitor cells during blood vessel development, and the de novo formation of blood vessels and tubes.	
HGNC:24154	BMPER	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24154		
ECTO:7000068	exposure to particulate matter	biolink:OntologyClass	mondo			particulate matter exposure	http://purl.obolibrary.org/obo/ECTO_7000068	A exposure event involving the interaction of an exposure receptor to particulate matter.	
ECTO:7000073	exposure to mineral material	biolink:OntologyClass	mondo			mineral material exposure	http://purl.obolibrary.org/obo/ECTO_7000073	A exposure event involving the interaction of an exposure receptor to mineral material.	
ECTO:7000075	exposure to permafrost	biolink:OntologyClass	mondo			permafrost exposure	http://purl.obolibrary.org/obo/ECTO_7000075	A exposure event involving the interaction of an exposure receptor to permafrost.	
ECTO:7000070	exposure to snow	biolink:OntologyClass	mondo			snow exposure	http://purl.obolibrary.org/obo/ECTO_7000070	A exposure event involving the interaction of an exposure receptor to snow.	
GO:0098531	ligand-activated transcription factor activity	biolink:OntologyClass	mondo			transcription factor activity, direct ligand regulated sequence-specific DNA binding|direct ligand regulated sequence-specific DNA binding transcription factor activity	http://purl.obolibrary.org/obo/GO_0098531	A DNA-binding transcription factor activity regulated by binding to a ligand and that modulates the transcription of specific gene sets. Examples include the lac and trp repressors in E.coli and steroid hormone receptors.	
HGNC:288	ADRB3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/288		
GO:1902106	negative regulation of leukocyte differentiation	biolink:OntologyClass	mondo			down regulation of leukocyte differentiation|downregulation of leukocyte differentiation|inhibition of leukocyte differentiation|down-regulation of immune cell differentiation|down-regulation of leucocyte differentiation|negative regulation of leucocyte differentiation|negative regulation of immune cell differentiation|down regulation of leucocyte differentiation|down regulation of immune cell differentiation|downregulation of leucocyte differentiation|inhibition of leucocyte differentiation|inhibition of immune cell differentiation|downregulation of immune cell differentiation|down-regulation of leukocyte differentiation	http://purl.obolibrary.org/obo/GO_1902106	Any process that stops, prevents or reduces the frequency, rate or extent of leukocyte differentiation.	
CL:0000215	barrier cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000215	A cell whose primary function is to prevent the transport of stuff across compartments.	
GO:1902107	positive regulation of leukocyte differentiation	biolink:OntologyClass	mondo			up regulation of leucocyte differentiation|up regulation of immune cell differentiation|activation of leucocyte differentiation|activation of immune cell differentiation|positive regulation of immune cell differentiation|positive regulation of leucocyte differentiation|up-regulation of leukocyte differentiation|upregulation of leucocyte differentiation|upregulation of immune cell differentiation|up regulation of leukocyte differentiation|activation of leukocyte differentiation|up-regulation of immune cell differentiation|up-regulation of leucocyte differentiation|upregulation of leukocyte differentiation	http://purl.obolibrary.org/obo/GO_1902107	Any process that activates or increases the frequency, rate or extent of leukocyte differentiation.	
HGNC:286	ADRB2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/286		
CL:0000216	Sertoli cell	biolink:Cell	mondo	BTO:0001238|CALOHA:TS-0922|FMA:72298|VHOG:0001348			http://purl.obolibrary.org/obo/CL_0000216	A supporting cell projecting inward from the basement membrane of seminiferous tubules. They surround and nourish the developing male germ cells and secrete androgen binding protein. Their tight junctions with the spermatogonia and spermatocytes provide a blood-testis barrier.	
GO:1902105	regulation of leukocyte differentiation	biolink:OntologyClass	mondo			regulation of immune cell differentiation|regulation of leucocyte differentiation	http://purl.obolibrary.org/obo/GO_1902105	Any process that modulates the frequency, rate or extent of leukocyte differentiation.	
CL:0000219	motile cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000219	A cell that moves by its own activities.	
HGNC:282	ADRA2B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/282		
ECTO:7000083	exposure to chemically enriched sediment	biolink:OntologyClass	mondo			chemically enriched sediment exposure	http://purl.obolibrary.org/obo/ECTO_7000083	A exposure event involving the interaction of an exposure receptor to chemically enriched sediment.	
CL:0000210	photoreceptor cell	biolink:Cell	mondo	FBbt:00004211|CALOHA:TS-0868|FMA:86740|BTO:0001060			http://purl.obolibrary.org/obo/CL_0000210	A cell specialized to detect and transduce light.	
CL:0000211	electrically active cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000211	A cell whose function is determined by the generation or the reception of an electric signal.	
HGNC:24160	BEAN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24160		
CL:0000213	lining cell	biolink:Cell	mondo			boundary cell	http://purl.obolibrary.org/obo/CL_0000213	A cell within an epithelial cell sheet whose main function is to act as an internal or external covering for a tissue or an organism.	
HGNC:257	ADK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/257		
GO:1902117	positive regulation of organelle assembly	biolink:OntologyClass	mondo			up-regulation of organelle assembly|activation of organelle assembly|upregulation of organelle assembly|up regulation of organelle assembly	http://purl.obolibrary.org/obo/GO_1902117	Any process that activates or increases the frequency, rate or extent of organelle assembly.	
GO:1902115	regulation of organelle assembly	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1902115	Any process that modulates the frequency, rate or extent of organelle assembly.	
HGNC:26790	WDR72	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26790		
HGNC:251	ADH1C	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/251		
GO:1902116	negative regulation of organelle assembly	biolink:OntologyClass	mondo			down regulation of organelle assembly|inhibition of organelle assembly|down-regulation of organelle assembly|downregulation of organelle assembly	http://purl.obolibrary.org/obo/GO_1902116	Any process that stops, prevents or reduces the frequency, rate or extent of organelle assembly.	
HGNC:250	ADH1B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/250		
GO:1902113	nucleotide phosphorylation involved in DNA repair	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1902113	Any nucleotide phosphorylation that is involved in DNA repair.	
GO:1904775	positive regulation of ubiquinone biosynthetic process	biolink:OntologyClass	mondo			up regulation of coenzyme Q biosynthetic process|up-regulation of ubiquinone formation|up regulation of coenzyme Q biosynthesis|activation of coenzyme Q10 biosynthesis|activation of coenzyme Q10 biosynthetic process|activation of ubiquinone formation|upregulation of coenzyme Q6 biosynthesis|upregulation of coenzyme Q6 biosynthetic process|upregulation of ubiquinone anabolism|activation of coenzyme Q8 biosynthetic process|activation of coenzyme Q biosynthetic process|activation of coenzyme Q biosynthesis|up-regulation of ubiquinone biosynthesis|activation of coenzyme Q8 biosynthesis|up-regulation of ubiquinone biosynthetic process|activation of coenzyme Q9 biosynthetic process|upregulation of coenzyme Q8 biosynthetic process|activation of coenzyme Q9 biosynthesis|positive regulation of coenzyme Q biosynthetic process|positive regulation of coenzyme Q biosynthesis|upregulation of coenzyme Q8 biosynthesis|upregulation of coenzyme Q9 biosynthesis|upregulation of coenzyme Q9 biosynthetic process|up regulation of ubiquinone biosynthesis|positive regulation of coenzyme Q6 biosynthesis|positive regulation of coenzyme Q6 biosynthetic process|positive regulation of ubiquinone anabolism|up regulation of ubiquinone biosynthetic process|upregulation of ubiquinone synthesis|activation of ubiquinone biosynthesis|activation of ubiquinone biosynthetic process|positive regulation of coenzyme Q8 biosynthetic process|up regulation of ubiquinone anabolism|upregulation of coenzyme Q biosynthesis|up-regulation of coenzyme Q10 biosynthesis|upregulation of coenzyme Q biosynthetic process|positive regulation of coenzyme Q8 biosynthesis|up-regulation of coenzyme Q10 biosynthetic process|up regulation of coenzyme Q6 biosynthetic process|positive regulation of ubiquinone biosynthesis|up regulation of coenzyme Q6 biosynthesis|positive regulation of coenzyme Q9 biosynthetic process|positive regulation of coenzyme Q9 biosynthesis|upregulation of ubiquinone formation|up regulation of coenzyme Q8 biosynthetic process|positive regulation of ubiquinone synthesis|up regulation of coenzyme Q8 biosynthesis|up-regulation of ubiquinone anabolism|up-regulation of coenzyme Q6 biosynthetic process|up regulation of coenzyme Q10 biosynthetic process|up-regulation of coenzyme Q6 biosynthesis|up regulation of coenzyme Q9 biosynthesis|up regulation of coenzyme Q10 biosynthesis|up regulation of coenzyme Q9 biosynthetic process|activation of ubiquinone anabolism|up regulation of ubiquinone synthesis|upregulation of ubiquinone biosynthetic process|upregulation of ubiquinone biosynthesis|positive regulation of coenzyme Q10 biosynthesis|positive regulation of ubiquinone formation|positive regulation of coenzyme Q10 biosynthetic process|up-regulation of coenzyme Q8 biosynthesis|up-regulation of coenzyme Q8 biosynthetic process|up-regulation of coenzyme Q9 biosynthesis|up-regulation of coenzyme Q9 biosynthetic process|up-regulation of coenzyme Q biosynthetic process|up-regulation of ubiquinone synthesis|up regulation of ubiquinone formation|activation of ubiquinone synthesis|up-regulation of coenzyme Q biosynthesis|activation of coenzyme Q6 biosynthetic process|upregulation of coenzyme Q10 biosynthetic process|upregulation of coenzyme Q10 biosynthesis|activation of coenzyme Q6 biosynthesis	http://purl.obolibrary.org/obo/GO_1904775	Any process that activates or increases the frequency, rate or extent of ubiquinone biosynthetic process.	
GO:1904774	negative regulation of ubiquinone biosynthetic process	biolink:OntologyClass	mondo			downregulation of ubiquinone biosynthesis|negative regulation of coenzyme Q6 biosynthesis|negative regulation of coenzyme Q6 biosynthetic process|down-regulation of coenzyme Q6 biosynthetic process|inhibition of ubiquinone biosynthetic process|down regulation of coenzyme Q9 biosynthesis|down-regulation of coenzyme Q6 biosynthesis|down regulation of ubiquinone synthesis|inhibition of ubiquinone biosynthesis|down regulation of coenzyme Q9 biosynthetic process|downregulation of ubiquinone biosynthetic process|negative regulation of coenzyme Q8 biosynthetic process|down-regulation of coenzyme Q8 biosynthetic process|negative regulation of coenzyme Q8 biosynthesis|down regulation of coenzyme Q10 biosynthetic process|down-regulation of coenzyme Q8 biosynthesis|inhibition of ubiquinone synthesis|down regulation of coenzyme Q10 biosynthesis|down-regulation of coenzyme Q9 biosynthesis|negative regulation of coenzyme Q9 biosynthetic process|down-regulation of coenzyme Q9 biosynthetic process|down regulation of ubiquinone formation|negative regulation of ubiquinone synthesis|down-regulation of ubiquinone synthesis|negative regulation of coenzyme Q9 biosynthesis|inhibition of coenzyme Q6 biosynthesis|inhibition of coenzyme Q6 biosynthetic process|down-regulation of coenzyme Q biosynthetic process|down-regulation of coenzyme Q biosynthesis|negative regulation of coenzyme Q biosynthesis|inhibition of ubiquinone formation|negative regulation of coenzyme Q biosynthetic process|inhibition of coenzyme Q8 biosynthetic process|downregulation of coenzyme Q10 biosynthetic process|inhibition of coenzyme Q8 biosynthesis|downregulation of coenzyme Q10 biosynthesis|negative regulation of ubiquinone formation|down-regulation of ubiquinone formation|inhibition of coenzyme Q9 biosynthesis|inhibition of coenzyme Q9 biosynthetic process|down regulation of coenzyme Q biosynthetic process|down regulation of coenzyme Q biosynthesis|downregulation of ubiquinone anabolism|downregulation of coenzyme Q6 biosynthesis|negative regulation of ubiquinone biosynthesis|down-regulation of ubiquinone biosynthesis|downregulation of coenzyme Q6 biosynthetic process|down-regulation of ubiquinone biosynthetic process|downregulation of coenzyme Q8 biosynthetic process|inhibition of coenzyme Q10 biosynthesis|downregulation of coenzyme Q8 biosynthesis|inhibition of coenzyme Q10 biosynthetic process|downregulation of coenzyme Q9 biosynthesis|downregulation of coenzyme Q biosynthetic process|downregulation of coenzyme Q biosynthesis|down regulation of ubiquinone biosynthetic process|down regulation of ubiquinone anabolism|downregulation of ubiquinone synthesis|inhibition of coenzyme Q biosynthetic process|downregulation of coenzyme Q9 biosynthetic process|down regulation of ubiquinone biosynthesis|inhibition of coenzyme Q biosynthesis|down regulation of coenzyme Q6 biosynthetic process|down regulation of coenzyme Q6 biosynthesis|inhibition of ubiquinone anabolism|negative regulation of coenzyme Q10 biosynthetic process|negative regulation of coenzyme Q10 biosynthesis|down regulation of coenzyme Q8 biosynthetic process|down-regulation of coenzyme Q10 biosynthesis|down-regulation of coenzyme Q10 biosynthetic process|downregulation of ubiquinone formation|negative regulation of ubiquinone anabolism|down-regulation of ubiquinone anabolism|down regulation of coenzyme Q8 biosynthesis	http://purl.obolibrary.org/obo/GO_1904774	Any process that stops, prevents or reduces the frequency, rate or extent of ubiquinone biosynthetic process.	
GO:1904783	positive regulation of NMDA glutamate receptor activity	biolink:OntologyClass	mondo			upregulation of N-methyl-D-aspartate selective glutamate receptor activity|upregulation of NMDA receptor|positive regulation of N-methyl-D-aspartate selective glutamate receptor activity|upregulation of NMDA glutamate receptor activity|up regulation of N-methyl-D-aspartate selective glutamate receptor activity|up-regulation of NMDA receptor|up-regulation of N-methyl-D-aspartate selective glutamate receptor activity|activation of N-methyl-D-aspartate selective glutamate receptor activity|up regulation of NMDA glutamate receptor activity|up regulation of NMDA receptor|positive regulation of NMDA receptor|activation of NMDA receptor|up-regulation of NMDA glutamate receptor activity|activation of NMDA glutamate receptor activity	http://purl.obolibrary.org/obo/GO_1904783	Any process that activates or increases the frequency, rate or extent of NMDA glutamate receptor activity.	
GO:1904782	negative regulation of NMDA glutamate receptor activity	biolink:OntologyClass	mondo			down-regulation of N-methyl-D-aspartate selective glutamate receptor activity|negative regulation of N-methyl-D-aspartate selective glutamate receptor activity|down-regulation of NMDA receptor|down regulation of NMDA glutamate receptor activity|negative regulation of NMDA receptor|inhibition of NMDA glutamate receptor activity|down-regulation of NMDA glutamate receptor activity|down regulation of NMDA receptor|inhibition of NMDA receptor|downregulation of N-methyl-D-aspartate selective glutamate receptor activity|downregulation of NMDA receptor|down regulation of N-methyl-D-aspartate selective glutamate receptor activity|inhibition of N-methyl-D-aspartate selective glutamate receptor activity|downregulation of NMDA glutamate receptor activity	http://purl.obolibrary.org/obo/GO_1904782	Any process that stops, prevents or reduces the frequency, rate or extent of NMDA glutamate receptor activity.	
CHEBI:39472	1,3,4-thiadiazole	biolink:ChemicalSubstance	mondo			1,3,4-thiadiazole	http://purl.obolibrary.org/obo/CHEBI_39472		
GO:0001568	blood vessel development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0001568	The process whose specific outcome is the progression of a blood vessel over time, from its formation to the mature structure. The blood vessel is the vasculature carrying blood.	
MONDO:0001367	chronic congestive splenomegaly	biolink:Disease	mondo	ICD10:D73.2|DOID:11787|ICD9:289.51|SCTID:191382009|COHD:196951|UMLS:C0398661		congestive splenomegaly, chronic	http://purl.obolibrary.org/obo/MONDO_0001367	Chronic form of congestive splenomegaly.	UMLS:C0398661|SNOMEDCT:191382009|DOID:11787
HGNC:24116	RNASEH2C	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24116		
MONDO:0001366	splenic sequestration	biolink:Disease	mondo	DOID:11786|ICD9:289.52			http://purl.obolibrary.org/obo/MONDO_0001366		DOID:11786
MONDO:0001365	necrosis of ear ossicle	biolink:Disease	mondo	ICD9:385.24|DOID:11783		partial loss or necrosis of ear ossicles	http://purl.obolibrary.org/obo/MONDO_0001365		DOID:11783
MONDO:0001364	regular astigmatism	biolink:Disease	mondo	ICD10:H52.22|ICD9:367.21|COHD:380706|UMLS:C0152193|SCTID:68905002|DOID:11781			http://purl.obolibrary.org/obo/MONDO_0001364		SNOMEDCT:68905002|DOID:11781|UMLS:C0152193
HP:0010280	Stomatitis	biolink:PhenotypicFeature	mondo	MSH:D013280|UMLS:C0038362|UMLS:C0149704|SNOMEDCT_US:20607006|SNOMEDCT_US:61170000	hposlim_core	Gingivostomatitis|Inflammation of the mouth	http://purl.obolibrary.org/obo/HP_0010280	Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth.	
ENVO:01000277	water ice	biolink:OntologyClass	mondo			ice	http://purl.obolibrary.org/obo/ENVO_01000277	Ice is water frozen into a solid state. It can appear transparent or opaque bluish-white color, depending on the presence of impurities or air inclusions. The addition of other materials such as soil may further alter its appearance.	
MONDO:0001369	chronic laryngitis	biolink:Disease	mondo	ICD9:476.0|SCTID:29951006|DOID:11797|ICD10:J37.0|COHD:24970|UMLS:C0155836|NCIT:C26975		laryngitis, chronic	http://purl.obolibrary.org/obo/MONDO_0001369	Persistent laryngitis usually caused by smoking, heavy alcohol consumption, voice abuse, or gastroesophageal reflux disease. It results in hoarseness and other voice changes.	SNOMEDCT:29951006|UMLS:C0155836|DOID:11797|NCIT:C26975
MONDO:0001368	phthisical cornea	biolink:Disease	mondo	UMLS:C0155102|COHD:381023|ICD9:371.05|SCTID:28143002|DOID:11793			http://purl.obolibrary.org/obo/MONDO_0001368		UMLS:C0155102|SNOMEDCT:28143002|DOID:11793
MONDO:0001363	blind hypertensive eye	biolink:Disease	mondo	ICD9:360.42|SCTID:264008|DOID:11776|UMLS:C0154789|COHD:377551			http://purl.obolibrary.org/obo/MONDO_0001363		UMLS:C0154789|DOID:11776|SNOMEDCT:264008
MONDO:0001362	obsolete leukocoria	biolink:Disease	mondo	COHD:373461|UMLS:C0152458|SCTID:1361009|DOID:11772|ICD10:H44.53|ICD9:360.44			http://purl.obolibrary.org/obo/MONDO_0001362	An abnormal white reflection from the retina of the eye.	DOID:11772|UMLS:C0152458|SNOMEDCT:1361009
MONDO:0001361	spontaneous ocular nystagmus	biolink:Disease	mondo	ICD9:379.53|SCTID:45339001|DOID:11771|UMLS:C0271384|ICD10:H55.03		visual deprivation nystagmus|ocular nystagmus|searching eye movements	http://purl.obolibrary.org/obo/MONDO_0001361	Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)	DOID:11771|SNOMEDCT:45339001|UMLS:C0271384
MONDO:0001360	blind hypotensive eye	biolink:Disease	mondo	COHD:378742|DOID:11766|ICD9:360.41|UMLS:C0154788|SCTID:23360000			http://purl.obolibrary.org/obo/MONDO_0001360		DOID:11766|UMLS:C0154788|SNOMEDCT:23360000
MONDO:0013356	vesicoureteral reflux 3	biolink:Disease	mondo	UMLS:C3150927|OMIM:613674		SOX17 vesicoureteral reflux (disease)|vesicoureteral reflux 3; VUR3|vesicoureteral reflux type 3|vesicoureteral reflux (disease) caused by mutation in SOX17|VUR3|vesicoureteral reflux 3	http://purl.obolibrary.org/obo/MONDO_0013356	Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene.	UMLS:C3150927|http://identifiers.org/omim/613674
MONDO:0040964	obsolete superimposed infection	biolink:Disease	mondo	UMLS:C0038826|SCTID:193198003		superimposed infection|superadded infection|suprainfection	http://purl.obolibrary.org/obo/MONDO_0040964		SNOMEDCT:193198003|UMLS:C0038826
MONDO:0013357	chromosome 17q11.2 deletion syndrome, 1.4Mb	biolink:Disease	mondo	GARD:0005408|ICD10:Q85.0|OMIM:613675|Orphanet:97685|DOID:0060403	ordo_clinical_subtype	chromosome 17q11.2 deletion syndrome, 1.4-MB|chromosome 17q11.2 deletion syndrome|17q11 microdeletion syndrome|neurofibromatosis 1 microdeletion syndrome|Van Asperen syndrome|Del(17)(q11)|NF1 microduplication syndrome|NF1 microdeletion syndrome|monosomy 17q11|neurofibromatosis type 1 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0013357	17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.	ORPHA:97685|DOID:0060403|http://identifiers.org/omim/613675
ECTO:9000049	carbon dioxide exposure	biolink:OntologyClass	mondo			exposure to carbon dioxide	http://purl.obolibrary.org/obo/ECTO_9000049	An exposure to carbon dioxide.	
MONDO:0013354	spastic ataxia 4	biolink:Disease	mondo	ICD10:G11.4|UMLS:C3150925|Orphanet:254343|GARD:0010992|UMLS:CN230090|OMIM:613672|DOID:0050943	ordo_disease	autosomal recessive spastic ataxia 4|spastic ataxia 4, autosomal recessive|autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome|autosomal recessive spastic ataxia type 4|MTPAP autosomal recessive spastic ataxia|spastic ataxia type 4|autosomal recessive spastic ataxia - optic atrophy - dysarthria|autosomal recessive spastic ataxia caused by mutation in MTPAP|spastic ataxia 4, autosomal recessive; SPAX4|SPAX4	http://purl.obolibrary.org/obo/MONDO_0013354	Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MTPAP gene.	ORPHA:254343|DOID:0050943|UMLS:C3150925|UMLS:CN230090|http://identifiers.org/omim/613672
MONDO:0013355	congenital dyserythropoietic anemia type 4	biolink:Disease	mondo	UMLS:C3150926|ICD10:D64.4|Orphanet:293825|DOID:0111400|SCTID:719453009|OMIM:613673	ordo_disease	congenital dyserythropoietic anemia due to KLF1 mutation|CDA type 4|CDA IV|CDA, type 4|anemia, congenital dyserythropoietic, type IV|congenital dyserythropoietic anemia type 4|anemia, congenital dyserythropoietic, type 4|anemia, congenital dyserythropoietic, type IV; CDAN4|CDAN4|CDA due to KLF1 mutation|CDA type IV	http://purl.obolibrary.org/obo/MONDO_0013355	Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.	DOID:0111400|UMLS:C3150926|SNOMEDCT:719453009|ORPHA:293825|http://identifiers.org/omim/613673
MONDO:0013358	Seckel syndrome 4	biolink:Disease	mondo	OMIM:613676|DOID:0070010|UMLS:C3888212		Seckel syndrome 4; SCKL4|CENPJ Seckel syndrome|Seckel syndrome type 4|Seckel syndrome caused by mutation in CENPJ|Seckel syndrome 4|SCKL4	http://purl.obolibrary.org/obo/MONDO_0013358	Any Seckel syndrome in which the cause of the disease is a mutation in the CENPJ gene.	DOID:0070010|UMLS:C3888212|http://identifiers.org/omim/613676
MONDO:0013359	familial hyperaldosteronism type III	biolink:Disease	mondo	UMLS:C3838758|ICD10:E26.0|UMLS:C3150933|SCTID:703234002|Orphanet:251274|OMIM:613677|GARD:0012362	ordo_disease	FH3|hyperaldosteronism, familial, type 3|HALD3|FH-III|FH 3|FH III|hyperaldosteronism, familial, type III; HALD3|familial hyperaldosteronism type 3|hyperaldosteronism, familial, type III	http://purl.obolibrary.org/obo/MONDO_0013359	Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia.	http://identifiers.org/omim/613677|SNOMEDCT:703234002|UMLS:C3150933|UMLS:C3838758|ORPHA:251274
PO:0009062	gynoecium	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PO_0009062	A collective phyllome structure (PO:0025023) composed all of the carpels (PO:0009030) in a flower (PO:0009046).	
ENVO:01000274	slate	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000274	Slate is a metamorphic rock which is fine-grained, foliated, homogeneous, Slates are derived from clastic sedimentary rocks.	
ECTO:9000044	ketone exposure	biolink:OntologyClass	mondo			exposure to ketone	http://purl.obolibrary.org/obo/ECTO_9000044	An exposure to ketone.	
ENVO:01000276	ecoregion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000276	A large unit of land or water containing a geographically distinct assemblage of species, natural communities, and environmental conditions.	
MONDO:0013352	intellectual disability-severe speech delay-mild dysmorphism syndrome	biolink:Disease	mondo	UMLS:C3150923|OMIM:613670|DOID:0111331|ICD10:Q87.2|EFO:1001500|UMLS:CN204965|GARD:0012501|Orphanet:391372	gard_rare|ordo_malformation_syndrome	FOXP1 related global developmental delay, intellectual disability and speech defects|mental retardation with language impairment and with or without autistic features|intellectual disability with language impairment and with or without autistic features	http://purl.obolibrary.org/obo/MONDO_0013352	Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as intellectual disability with language impairment and with or without autistic features, is adisorder characterized by global developmental delay with moderate to severe speech delay thataffects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting palpebral fissures, short nose with broad tip, head appearing too large for the body, frontal hair upsweep, and bulging digit pads anddelatyed gross motor skills. Some patients have autistic features and/or behavioral problems. Congenital malformations may be associated. All reported cases have occurred de novo (without any cases in the family). It is caused by alterations (mutations) in the caused by heterozygous mutation in the FOXP1 gene.	DOID:0111331|UMLS:C3150923|UMLS:CN204965|http://identifiers.org/omim/613670|ORPHA:391372
MONDO:0013353	intellectual disability, anterior maxillary protrusion, and strabismus	biolink:Disease	mondo	UMLS:C3150924|OMIM:613671|Orphanet:562559		intellectual disability, anterior maxillary protrusion, and strabismus; MRAMS|intellectual disability, anterior maxillary protrusion, and strabismus|mental retardation, anterior maxillary protrusion, and strabismus|mental retardation, anterior maxillary protrusion, and strabismus; MRAMS|MRAMS	http://purl.obolibrary.org/obo/MONDO_0013353		UMLS:C3150924|ORPHA:562559|http://identifiers.org/omim/613671
MONDO:0013350	mitochondrial DNA depletion syndrome 4b	biolink:Disease	mondo	UMLS:C3150914|OMIM:613662|DOID:0080123		mitochondrial DNA depletion syndrome type 4b|mitochondrial neurogastrointestinal encephalopathy syndrome, Polg-related|Mngie, Polg-related|mitochondrial DNA depletion syndrome 4B (MNGIE type); MTDPS4B|mitochondrial DNA depletion syndrome 4B (MNGIE type)|MTDPS4B	http://purl.obolibrary.org/obo/MONDO_0013350		UMLS:C3150914|http://identifiers.org/omim/613662|DOID:0080123
ENVO:01000271	clastic sedimentary rock	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000271	Clastic sedimentary rocks are sedimentary rocks that are composed of silicate minerals and rock fragments that were transported by moving fluids. Clastic rocks are composed largely of quartz, feldspar, rock (lithic) fragments, clay minerals, and mica; numerous other minerals may be present as accessories and may be important locally.	
MONDO:0013351	infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	biolink:Disease	mondo	GARD:0010995|OMIM:613668|UMLS:C3150921|ICD10:Q04.3|DOID:0111262|Orphanet:402364	ordo_malformation_syndrome	microcephaly, postnatal progressive, with seizures and brain atrophy|postnatal progressive microcephaly, seizures, and brain atrophy	http://purl.obolibrary.org/obo/MONDO_0013351	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.	UMLS:C3150921|ORPHA:402364|http://identifiers.org/omim/613668|DOID:0111262
MONDO:0001378	urachus cancer	biolink:Disease	mondo	ICD9:188.7|UMLS:C0153615|DOID:11817|SCTID:363456000|ICD10:C67.7		malignant neoplasm of urachus|urachus cancer|malignant urachus neoplasm|malignant tumor of urachus|cancer of urachus	http://purl.obolibrary.org/obo/MONDO_0001378	A malignant neoplasm involving the urachus.	SNOMEDCT:363456000|DOID:11817|UMLS:C0153615
MONDO:0001377	vitreous syneresis	biolink:Disease	mondo	ICD9:379.21|SCTID:60189009|COHD:320420|UMLS:C0155366|ICD10:H43.81|DOID:11816		vitreous degeneration	http://purl.obolibrary.org/obo/MONDO_0001377		UMLS:C0155366|SNOMEDCT:60189009|DOID:11816
MONDO:0001376	urinary bladder anterior wall cancer	biolink:Disease	mondo	UMLS:C0153611|SCTID:188242006|ICD9:188.3|ICD10:C67.3|DOID:11814		malignant neoplasm of anterior wall of urinary bladder	http://purl.obolibrary.org/obo/MONDO_0001376		DOID:11814|UMLS:C0153611|SNOMEDCT:188242006
CHEBI:76414	propellant	biolink:ChemicalSubstance	mondo			propellants	http://purl.obolibrary.org/obo/CHEBI_76414	A compressed gas or liquid with a boiling point lower than room temperature which to used to propel and dispense liquids such as deodorants, insecticides, paints, etc. from aerosol cans.	
MONDO:0001375	bladder trigone cancer	biolink:Disease	mondo	SCTID:188239000|ICD9:188.0|UMLS:C0496826|ICD10:C67.0|DOID:11813		trigone of urinary bladder cancer|cancer of trigone of urinary bladder|malignant trigone of urinary bladder neoplasm|malignant neoplasm of trigone of urinary bladder	http://purl.obolibrary.org/obo/MONDO_0001375	A malignant neoplasm involving the trigone of urinary bladder.	DOID:11813|SNOMEDCT:188239000|UMLS:C0496826
ENVO:01000266	water vapour	biolink:OntologyClass	mondo			water vapor|aqueous vapour|aqueous vapor	http://purl.obolibrary.org/obo/ENVO_01000266	Water vapour is a vapour which is the gas phase of water.	
ENVO:01000267	atmosphere	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000267	An atmosphere is a layer of gases surrounding a material body of sufficient mass that is held in place by the gravity of the body.	
ENVO:01000268	atmospheric water vapour	biolink:OntologyClass	mondo			atmospheric water vapor	http://purl.obolibrary.org/obo/ENVO_01000268	Atmospheric water vapour is water vapour that is part of an atmosphere.	
MONDO:0001379	ureteric orifice cancer	biolink:Disease	mondo	SCTID:188245008|ICD9:188.6|UMLS:C0153614|DOID:11818|ICD10:C67.6		cancer of ureteral orifice|malignant ureteral orifice neoplasm|malignant tumor of ureteric orifice|malignant neoplasm of ureteral orifice|malignant neoplasm of ureteric orifice of urinary bladder|orifice of the ureter|ureteral orifice cancer	http://purl.obolibrary.org/obo/MONDO_0001379	A malignant neoplasm involving the ureteral orifice.	SNOMEDCT:188245008|DOID:11818|NCIT:C12337|UMLS:C0153614
MONDO:0001370	pericardial effusion (disease)	biolink:Disease	mondo	HP:0001698|NCIT:C3319|SCTID:373945007|DOID:118|UMLS:C0031039		fluid, pericardial|pericardial effusion|pericardial fluid	http://purl.obolibrary.org/obo/MONDO_0001370	Fluid collection within the pericardial sac, usually due to inflammation.	SNOMEDCT:373945007|NCIT:C3319|UMLS:C0031039|DOID:118
MONDO:0001374	bladder sarcoma	biolink:Disease	mondo	DOID:11812|SCTID:278046008|NCIT:C4669|UMLS:C0349666		sarcoma of the bladder|bladder sarcoma|sarcoma of bladder|urinary bladder sarcoma|sarcoma of urinary bladder|sarcoma of the urinary bladder	http://purl.obolibrary.org/obo/MONDO_0001374	A malignant mesenchymal cell neoplasm that affects the urinary bladder.	UMLS:C0349666|DOID:11812|NCIT:C4669|SNOMEDCT:278046008
HGNC:24123	B9D1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24123		
MONDO:0001373	urinary bladder posterior wall cancer	biolink:Disease	mondo	ICD9:188.4|DOID:11811|UMLS:C0153612|ICD10:C67.4|SCTID:188243001		malignant neoplasm of posterior wall of urinary bladder	http://purl.obolibrary.org/obo/MONDO_0001373		SNOMEDCT:188243001|DOID:11811|UMLS:C0153612
MONDO:0001372	bladder neck cancer	biolink:Disease	mondo	DOID:11809|ICD9:188.5|SCTID:188244007|ICD10:C67.5		malignant neoplasm of urinary bladder neck|malignant neoplasm of neck of urinary bladder|malignant tumor of bladder neck|neck of urinary bladder cancer|cancer of neck of urinary bladder|malignant neck of urinary bladder neoplasm	http://purl.obolibrary.org/obo/MONDO_0001372	A malignant neoplasm involving the neck of urinary bladder.	SNOMEDCT:188244007|DOID:11809
HGNC:26784	C12orf65	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26784		
MONDO:0001371	protein-energy malnutrition	biolink:Disease	mondo	MESH:D011502|NCIT:C34952|ICD9:263.8|SCTID:238107002|ICD10:E46|ICD9:263.9|DOID:11801|ICD9:269.8		Protein energy malnutrition	http://purl.obolibrary.org/obo/MONDO_0001371	A nutritional deficit that is caused by inadequate protein or calorie intake.	MESH:D011502|DOID:11801|SNOMEDCT:238107002|NCIT:C34952
MONDO:0013345	d-2-hydroxyglutaric aciduria 2	biolink:Disease	mondo	OMIM:613657|UMLS:C3150909|DOID:0111352		D-2-hydroxyglutaric aciduria type 2|D-2-hydroxyglutaric aciduria 2; D2HGA2|IDH2 D-2-hydroxyglutaric aciduria|d-2-hydroxyglutaric aciduria 2|D2HGA2|D-2-hydroxyglutaric aciduria caused by mutation in IDH2	http://purl.obolibrary.org/obo/MONDO_0013345	Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the IDH2 gene.	http://identifiers.org/omim/613657|DOID:0111352|UMLS:C3150909
MONDO:0013346	obsolete brain calcification, Rajab type	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0013346		
MONDO:0013343	C1Q deficiency	biolink:Disease	mondo	UMLS:C3150902|OMIM:613652|NCIT:C119990|GARD:0012958	gard_rare	C1Q deficiency|C1QD|C1q deficiency; C1QD	http://purl.obolibrary.org/obo/MONDO_0013343	C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a complex and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor.	UMLS:C3150902|NCIT:C119990|http://identifiers.org/omim/613652
MONDO:0013344	migraine, with or without aura, susceptibility to, 13	biolink:Disease	mondo	OMIM:613656	predisposition	KCNK18 migraine disorder|MGR13|migraine with or without aura, susceptibility to, 13; MGR13|migraine, with or without aura, susceptibility to, 13; MGR13|migraine with or without aura, susceptibility to, 13|susceptibility to migraine with or without aura 13|migraine, with or without aura, susceptibility to, type 13|migraine, with or without aura, susceptibility to, 13|migraine disorder caused by mutation in KCNK18	http://purl.obolibrary.org/obo/MONDO_0013344	Any migraine disorder in which the cause of the disease is a mutation in the KCNK18 gene.	http://identifiers.org/omim/613656
MONDO:0013349	ALG11-CDG	biolink:Disease	mondo	ICD10:E77.8|DOID:0080567|OMIM:613661|UMLS:C3150913|SCTID:733085004|Orphanet:280071|GARD:0012396	ordo_disease	congenital disorder of glycosylation type 1p|congenital disorder of glycosylation, type Ip; CDG1P|CDG-Ip|carbohydrate deficient glycoprotein syndrome type Ip|ALG11-CDG (CDG-Ip)|CDG syndrome type Ip|congenital disorder of glycosylation type Ip|CDG1P|congenital disorder of glycosylation, type Ip	http://purl.obolibrary.org/obo/MONDO_0013349	(13q14.3).	http://identifiers.org/omim/613661|DOID:0080567|UMLS:C3150913|ORPHA:280071|SNOMEDCT:733085004
MONDO:0013347	obsolete gastric cancer	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0013347		
MONDO:0013348	cone-rod dystrophy 15	biolink:Disease	mondo	DOID:0111021|OMIM:613660|UMLS:C3150912		CDHR1 cone-rod dystrophy|cone-rod dystrophy type 15|cone-rod dystrophy 15; CORD15|cone-rod dystrophy caused by mutation in CDHR1|CORD15|retinitis pigmentosa 65|cone-rod dystrophy 15	http://purl.obolibrary.org/obo/MONDO_0013348	Any cone-rod dystrophy in which the cause of the disease is a mutation in the CDHR1 gene.	http://identifiers.org/omim/613660|DOID:0111021|UMLS:C3150912
MONDO:0013341	methylmalonic acidemia due to transcobalamin receptor defect	biolink:Disease	mondo	DOID:0060741|OMIM:613646|ICD10:E71.1|Orphanet:280183|UMLS:C3150900	ordo_biological_anomaly	methylmalonic aciduria due to transcobalamin receptor defect|methylmalonic acidemia, TCb1R type|methylmalonic acidemia, TCbIR type|CD320 methylmalonic acidemia|methylmalonic acidemia, Tcblr type|methylmalonic aciduria, transient, due to transcobalamin receptor defect|methylmalonic acidemia caused by mutation in CD320	http://purl.obolibrary.org/obo/MONDO_0013341	Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported.	UMLS:C3150900|ORPHA:280183|DOID:0060741|http://identifiers.org/omim/613646
MONDO:0013342	hereditary spastic paraplegia 48	biolink:Disease	mondo	DOID:0110800|OMIM:613647|SCTID:763367009|UMLS:C3150901|ICD10:G11.4|Orphanet:306511	ordo_disease	autosomal recessive spastic paraplegia type 48|spastic paraplegia 48, autosomal recessive; SPG48|spastic paraplegia 48, autosomal recessive|SPG48|hereditary spastic paraplegia type 48|autosomal recessive spastic paraplegia 48|AP5Z1 hereditary spastic paraplegia|hereditary spastic paraplegia caused by mutation in AP5Z1	http://purl.obolibrary.org/obo/MONDO_0013342	Autosomal recessive spastic paraplegia type 48 (SPG48) is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported.	UMLS:C3150901|DOID:0110800|SNOMEDCT:763367009|ORPHA:306511|http://identifiers.org/omim/613647
CHEBI:76413	greenhouse gas	biolink:ChemicalSubstance	mondo			greenhouse gases	http://purl.obolibrary.org/obo/CHEBI_76413	A gas in an atmosphere that absorbs and emits radiation within the thermal infrared range, so contributing to the 'greenhouse effect'.	
MONDO:0013340	Parkinson disease 5, autosomal dominant, susceptibility to	biolink:Disease	mondo	OMIM:613643|UMLS:C3150899	predisposition	susceptibility to autosomal dominant Parkinson disease 5|Parkinson disease 5, autosomal dominant, susceptibility to; PARK5|UCHL1 young-onset Parkinson disease|Parkinson disease 5, autosomal dominant, susceptibility to|young-onset Parkinson disease caused by mutation in UCHL1|PARK5	http://purl.obolibrary.org/obo/MONDO_0013340	Any young-onset Parkinson disease in which the cause of the disease is a mutation in the UCHL1 gene.	UMLS:C3150899|http://identifiers.org/omim/613643
MONDO:0001345	antidepressant type abuse	biolink:Disease	mondo	DOID:11718|ICD9:305.8			http://purl.obolibrary.org/obo/MONDO_0001345	A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences.	DOID:11718
MONDO:0001344	obsolete neonatal diabetes mellitus	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001344		
MONDO:0001343	impaired renal function disease	biolink:Disease	mondo	DOID:11705|ICD9:588.89|ICD9:588.8|SCTID:197663003|ICD10:N25|ICD9:588.9		disease of kidney|kidney disease	http://purl.obolibrary.org/obo/MONDO_0001343	Any disease in which the causes of the disease is a perturbation of the kidney leading to its dysfunction.	SNOMEDCT:197663003|DOID:11705
MONDO:0001342	dysgammaglobulinemia (disease)	biolink:Disease	mondo	DOID:11702|SCTID:123782009|MESH:D004406|HP:0002961|UMLS:C0013374		dysgammaglobulinemia (finding)|dysgammaglobulinemia	http://purl.obolibrary.org/obo/MONDO_0001342	An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins.	SNOMEDCT:123782009|UMLS:C0013374|DOID:11702|MESH:D004406
MONDO:0001349	odontoclasia	biolink:Disease	mondo	SCTID:196305005|DOID:11736|UMLS:C0341004|ICD10:K02.4|ICD9:521.05			http://purl.obolibrary.org/obo/MONDO_0001349		SNOMEDCT:196305005|UMLS:C0341004|DOID:11736
MONDO:0001348	obsolete Lyme disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001348		
MONDO:0001347	facioscapulohumeral muscular dystrophy	biolink:Disease	mondo	SCTID:399091004|MESH:D020391|MedDRA:10064087|DOID:11727|Orphanet:269|ICD10:G71.0|NCIT:C84704	ordo_disease	facioscapulohumeral dystrophy|muscular dystrophy, Landouzy-Dejerine|FSHD|facioscapulohumeral myopathy|facioscapulohumeral muscular dystrophy|Landouzy-Dejerine muscular dystrophy|Landouzy Dejerine muscular dystrophy|Landouzy-Dejerine myopathy|FSH dystrophy	http://purl.obolibrary.org/obo/MONDO_0001347	An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well.	UMLS:C0238288|MEDDRA:10064087|ORPHA:269|SNOMEDCT:399091004|DOID:11727|NCIT:C84704|MESH:D020391
MONDO:0001346	obsolete distal muscular dystrophy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001346		
MONDO:0013329	familial clubfoot due to 17q23.1q23.2 microduplication	biolink:Disease	mondo	UMLS:C3150880|ICD10:Q66.8|Orphanet:238578|OMIM:613618	ordo_etiological_subtype	hereditary clubfoot due to 17q23.1-q23.2 microduplication|chromosome 17q23.1-q23.2 DUPLICATION syndrome	http://purl.obolibrary.org/obo/MONDO_0013329	17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot.	http://identifiers.org/omim/613618|ORPHA:238578|UMLS:C3150880
MONDO:0001341	selective IgA deficiency disease	biolink:Disease	mondo	DC:0000223|MESH:D017098|DOID:0060025|EFO:1001929|DOID:11701|SCTID:29260007|UMLS:C4049006|UMLS:C0162538|NCIT:C26964		IgA deficiency|deficiency, IgA|immunoglobulin alpha deficiency|IgA deficiencies|selective immunoglobulin A deficiency|gamma-A-globulin deficiency|selective IgA immunodeficiency|immunoglobulin A deficiency|deficiencies, IgA	http://purl.obolibrary.org/obo/MONDO_0001341	A dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class A (IgA). It is the most common primary antibody deficiency. It may be inherited or the reversible sequela of infection or certain drugs. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Though affected persons may be asymptomatic, low levels of IgA will reduce the immune system's ability to combat infection where IgA is normally secreted, at mucosal surfaces. Selective IgA deficiency is seen in greater proportion among patients with autoimmune disorders.	SNOMEDCT:29260007|UMLS:C0162538|DOID:0060025|UMLS:C4049006|MESH:D017098|DOID:11701|NCIT:C26964
MONDO:0001340	heart cancer	biolink:Disease	mondo	DOID:117|NCIT:C3548|ICD10:C38.0|MESH:D006338|ICD9:164.1		malignant tumor of the heart|malignant tumor of heart|Cardiac neoplasm, malignant|tumour of heart|malignant Cardiac neoplasm|Cardiac tumor|malignant neoplasm of the heart|malignant Cardiac tumor|malignant heart neoplasm|malignant heart tumor|cancer of heart|malignant neoplasm of heart|heart cancer	http://purl.obolibrary.org/obo/MONDO_0001340	A malignant neoplasm involving the heart	DOID:117|MESH:D006338|NCIT:C3548
MONDO:0015997	ectopia lentis-chorioretinal dystrophy-myopia syndrome	biolink:Disease	mondo	SCTID:722437006|ICD10:Q15.8|GARD:0003999|Orphanet:1884|MESH:C536124	ordo_disease	noble-Bass-Sherman syndrome|ectopia lentis chorioretinal dystrophy myopia|noble Bass Sherman syndrome	http://purl.obolibrary.org/obo/MONDO_0015997	Ectopia lentis-chorioretinal dystrophy-myopia syndrome is characterised by anomalies of the lens (ectopia and cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family, all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive.	MESH:C536124|ORPHA:1884|SNOMEDCT:722437006
MONDO:0013334	cocoon syndrome	biolink:Disease	mondo	Orphanet:465824|UMLS:C3150891|OMIM:613630|DOID:0060647	ordo_malformation_syndrome	fetal encasement syndrome|cocoon syndrome	http://purl.obolibrary.org/obo/MONDO_0013334	Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported.	http://identifiers.org/omim/613630|ORPHA:465824|UMLS:C3150891|DOID:0060647
MONDO:0013335	tuberculin skin test reactivity, absence of	biolink:Disease	mondo	OMIM:613636		tuberculin skin test reactivity, absence of|Tst1|tst reactivity, absence of	http://purl.obolibrary.org/obo/MONDO_0013335		http://identifiers.org/omim/613636
MONDO:0015996	obsolete systemic capillary leak syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015996		
MONDO:0015995	melorheostosis with osteopoikilosis	biolink:Disease	mondo	UMLS:CN200621|GARD:0003800|ICD10:M85.8|UMLS:C2931505|GARD:0003690|Orphanet:1879	gard_rare|ordo_malformation_syndrome	dystrophy osseous sclerosing mixed|MSBD syndrome|mixed sclerosing bone dystrophy	http://purl.obolibrary.org/obo/MONDO_0015995	Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities.	UMLS:CN200621|ORPHA:1879|UMLS:C2931505
MONDO:0013332	brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation	biolink:Disease	mondo	SCTID:719162001|UMLS:C3150890|OMIM:613627		Tsukahara syndrome|brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation|brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0013332		http://identifiers.org/omim/613627|UMLS:C3150890|SNOMEDCT:719162001
MONDO:0015994	muscular dystrophy-white matter spongiosis syndrome	biolink:Disease	mondo	ICD10:G71.2|GARD:0003854|UMLS:CN200619|Orphanet:1877	ordo_disease|gard_rare	muscular dystrophy white matter spongiosis|Atrophie blanche	http://purl.obolibrary.org/obo/MONDO_0015994		ORPHA:1877|UMLS:CN200619
MONDO:0013333	odontoid hypoplasia	biolink:Disease	mondo	NCIT:C86969|OMIM:613628		odontoid hypoplasia	http://purl.obolibrary.org/obo/MONDO_0013333	An often asymptomatic developmental abnormality of the cervical spine. It is characterized by the hypoplasia of the odontoid which appears as a stubby peg of an odontoid process. Symptoms may develop after minor trauma and include localized neck pain, atlantoaxial instability, and transient or permanent neurologic manifestations.	http://identifiers.org/omim/613628|NCIT:C86969
MONDO:0013338	Charcot-Marie-Tooth disease recessive intermediate b	biolink:Disease	mondo	GARD:0012454|ICD10:G60.0|Orphanet:254334|OMIM:613641|DOID:0110204|UMLS:C3150897	ordo_disease	Charcot-Marie-Tooth disease, recessive intermediate B|Charcot-Marie-Tooth neuropathy, recessive Intermediate B|RI-CMT type B|CMTRIB|Charcot-Marie-Tooth disease, recessive intermediate B; CMTRIB|Charcot-Marie-Tooth disease recessive intermediate type B|Charcot-Marie-Tooth disease, recessive Intermediate type B|RI-CMTB|autosomal recessive intermediate Charcot-Marie-Tooth disease type B|Charcot-Marie-Tooth disease caused by mutation in KARS|Charcot-Marie-Tooth neuropathy recessive intermediate B|KARS Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, recessive intermediate, B	http://purl.obolibrary.org/obo/MONDO_0013338	Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.	http://identifiers.org/omim/613641|ORPHA:254334|DOID:0110204|UMLS:C3150897
MONDO:0013339	dilated cardiomyopathy 1GG	biolink:Disease	mondo	OMIM:613642|DOID:0110435|ICD10:I42.0|UMLS:C3150898		cardiomyopathy, dilated, type 1Gg|SDHA familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, 1GG; CMD1GG|cardiomyopathy, dilated, 1GG|familial isolated dilated cardiomyopathy caused by mutation in SDHA|CMD1GG|dilated cardiomyopathy type 1GG	http://purl.obolibrary.org/obo/MONDO_0013339	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SDHA gene.	http://identifiers.org/omim/613642|UMLS:C3150898|DOID:0110435
MONDO:0015999	primary pigmented nodular adrenocortical disease	biolink:Disease	mondo	UMLS:CN200645|DC:0000357|NCIT:C131196|OMIMPS:610489|Orphanet:189439|ICD10:E24.8|GARD:0010906|SCTID:719274008|UMLS:C4304832|DOID:0060280	gard_rare|ordo_disease	pigmented nodular adrenocortical disease, primary|primary pigmented nodular adrenal dysplasia|pigmented nodular adrenocortical disease|PPNAD	http://purl.obolibrary.org/obo/MONDO_0015999	Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter).	ORPHA:189439|SNOMEDCT:719274008|UMLS:CN200645|UMLS:C4304832|NCIT:C131196|DOID:0060280
MONDO:0013336	chromosome 19p13.13 deletion syndrome	biolink:Disease	mondo	DOID:0060426|OMIM:613638|UMLS:C3150894|UMLS:CN204595|ICD10:Q93.5|SCTID:764440006|Orphanet:357001	ordo_malformation_syndrome	monosomy 19p13.13|Del(19)(p13.13)|chromosome 19p13.13 deletion syndrome|chromosome 19P13.13 Duplication syndrome|19p13.13 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0013336	19p13.13 microdeletion syndrome is a rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation).	http://identifiers.org/omim/613638|ORPHA:357001|UMLS:C3150894|DOID:0060426|SNOMEDCT:764440006|UMLS:CN204595
MONDO:0013337	neuropathy, hereditary sensory and autonomic, type 1C	biolink:Disease	mondo	OMIM:613640|DOID:0070157|UMLS:C3150896		HSAN 1C|neuropathy, hereditary sensory and autonomic, type IC; HSAN1C|hereditary sensory and autonomic neuropathy type 1C|neuropathy, hereditary sensory and autonomic, type IC|hereditary sensory and autonomic neuropathy type IC|HSAN1C|HSN 1C|neuropathy, hereditary sensory, type 1C	http://purl.obolibrary.org/obo/MONDO_0013337	A hereditary sensory and autonomic neuropathy type 1 that has material basis in heterozygous mutation in the SPTLC2 gene on chromosome 14q24.	http://identifiers.org/omim/613640|UMLS:C3150896|DOID:0070157
MONDO:0015998	isolated ectopia lentis	biolink:Disease	mondo	DC:0000511|MedDRA:10014145|Orphanet:1885|ICD10:Q12.1|PMID:20141359|DOID:0111148|MESH:C536184|GARD:0012251|SCTID:74969002|NCIT:C34566	ordo_malformation_syndrome|gard_rare	ectopia lentis syndrome|nonsyndromic lens position anomaly|familial ectopia lentis|congenital ectopic lens|IEL|isolated lens position anomaly	http://purl.obolibrary.org/obo/MONDO_0015998	Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.	UMLS:C0013581|MESH:C536184|NCIT:C34566|DOID:0111148|ORPHA:1885|MEDDRA:10014145|SNOMEDCT:74969002|MESH:D004479
ENVO:01000295	marine layer	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000295	A layer that is part of a marine water body.	
MONDO:0001339	portal vein thrombosis	biolink:Disease	mondo	ICD10:I81|DOID:11695|COHD:199837|UMLS:C0155773|NCIT:C78565|ICD9:452|SCTID:17920008		thrombotic disease of portal vein|portal vein thrombotic disease	http://purl.obolibrary.org/obo/MONDO_0001339	The formation of a blood clot (thrombus) in the portal vein.	DOID:11695|NCIT:C78565|SNOMEDCT:17920008|UMLS:C0155773
ECTO:9000021	alkali metal salt exposure	biolink:OntologyClass	mondo			exposure to alkali metal salt	http://purl.obolibrary.org/obo/ECTO_9000021	An exposure to alkali metal salt.	
MONDO:0015993	cone-rod dystrophy	biolink:Disease	mondo	OMIMPS:120970|Orphanet:1872|GARD:0010790|DOID:0050572|ICD10:H35.5	ordo_disease	cone rod dystrophy|cone-rod retinal dystrophy	http://purl.obolibrary.org/obo/MONDO_0015993	Cone rod dystrophies (CRDs) are inherited retinal dystrophies that belong to the group of pigmentary retinopathies.	ORPHA:1872|DOID:0050572
MONDO:0013330	agenesis of the corpus callosum and congenital lymphedema	biolink:Disease	mondo	OMIM:613623|UMLS:C3150887		agenesis of the corpus callosum and congenital lymphedema	http://purl.obolibrary.org/obo/MONDO_0013330		UMLS:C3150887|http://identifiers.org/omim/613623
MONDO:0013331	factor 5 and Factor VIII, combined deficiency of, 2	biolink:Disease	mondo	OMIM:613625|UMLS:C3150889		combined deficiency of factor V and factor VIII caused by mutation in MCFD2|factor 5 and Factor VIII, combined deficiency of, type 2|factor V and factor VIII, combined deficiency of, 2; F5F8D2|F5F8D2|MCFD2 combined deficiency of factor V and factor VIII|factor V and factor VIII, combined deficiency of, 2	http://purl.obolibrary.org/obo/MONDO_0013331	Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the MCFD2 gene.	http://identifiers.org/omim/613625|UMLS:C3150889
MONDO:0015992	obsolete progressive cone dystrophy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015992		
MONDO:0015991	citrullinemia	biolink:Disease	mondo	MESH:D020159|Orphanet:187|ICD10:E72.2|NCIT:C84639|UMLS:C0175683|SCTID:124711003|ICD10:E72.23|DOID:9273	ordo_group_of_disorders	deficiency of citrulline-aspartate ligase|ass deficiency	http://purl.obolibrary.org/obo/MONDO_0015991	Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency).	UMLS:C0175683|ORPHA:187|DOID:9273|MESH:D020159|NCIT:C84639|SNOMEDCT:124711003
ENVO:01000293	ice mass	biolink:OntologyClass	mondo			accumulation of ice|ice accumulation	http://purl.obolibrary.org/obo/ENVO_01000293	A mass of water ice.	
ECTO:9000026	alcohol exposure	biolink:OntologyClass	mondo			exposure to alcohol	http://purl.obolibrary.org/obo/ECTO_9000026	An exposure to alcohol.	
MONDO:0015990	focal, segmental or multifocal dystonia	biolink:Disease	mondo	ICD10:G24.8|ICD10:G24.5|ICD10:G24.4|ICD10:G24.3|Orphanet:1866	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015990	A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions.	ORPHA:1866
MONDO:0001356	iron deficiency anemia	biolink:Disease	mondo	UMLS:C0162316|SCTID:87522002|DOID:11758|MESH:D018798|COHD:436659|ICD9:280.9|ICD9:280.8|NCIT:C84484		iron-deficiency anemia	http://purl.obolibrary.org/obo/MONDO_0001356	Anemia caused by low iron intake, inefficient iron absorption in the gastrointestinal tract, or chronic blood loss.	UMLS:C0162316|SNOMEDCT:87522002|MESH:D018798|DOID:11758|NCIT:C84484
MONDO:0001355	ocular siderosis	biolink:Disease	mondo	ICD9:360.23|DOID:11754|UMLS:C0271001|SCTID:25277000|ICD10:H44.32		camera-type eye hemosiderosis|hemosiderosis of camera-type eye|siderosis of eye|siderosis bulbi|siderosis of globe	http://purl.obolibrary.org/obo/MONDO_0001355	A hemosiderosis that involves the camera-type eye.	SNOMEDCT:25277000|DOID:11754|UMLS:C0271001
UBERON:0010190	pair of dorsal aortae	biolink:AnatomicalEntity	mondo			paired dorsal aortae	http://purl.obolibrary.org/obo/UBERON_0010190	the paired arterial structures of the embryo that supplies each developing somite via efferent segmental arteries; the dorsal aortae articulate with the umbilical arteries, which return mixed blood to the villi of the chorion for reoxygenation	
MONDO:0025303	anaplasmosis	biolink:Disease	mondo	SCTID:13906002		Anaplasma infectious disease|Anaplasma disease or disorder|Anaplasma caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0025303	An disease or disorder caused by infection with Anaplasma.	SNOMEDCT:13906002
MONDO:0001354	obsolete acute endophthalmitis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001354		
MONDO:0001353	Bordetella parapertussis infectious disease	biolink:Disease	mondo	SCTID:77116006|ICD10:A37.1|DOID:11750|ICD9:033.1|UMLS:C0275742		Bordetella parapertussis caused disease or disorder|Bordetella parapertussis infection|infection caused by Bordetella parapertussis|infection due to Bordetella parapertussis|Bordetella parapertussis disease or disorder|Bordetella parapertussis whooping cough	http://purl.obolibrary.org/obo/MONDO_0001353	Any disease caused by infection with by Bordetella parapertussis. The symptoms are similar but less severe than Bordetella pertussis whooping cough.	UMLS:C0275742|SNOMEDCT:77116006|DOID:11750
MONDO:0001359	obsolete Kohler disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001359		
MONDO:0001358	bronchial disease	biolink:Disease	mondo	EFO:1002018|DOID:1176|SCTID:41427001|UMLS:C0006261|NCIT:C34439|ICD9:519.19|COHD:256717|MESH:D001982		disease of bronchus|disease or disorder of bronchus|bronchus disease|bronchospasm|bronchial disorder|bronchus disease or disorder|disorder of bronchus	http://purl.obolibrary.org/obo/MONDO_0001358	A disease involving the bronchus.	NCIT:C34439|MESH:D001982|UMLS:C0006261|DOID:1176|SNOMEDCT:41427001
UBERON:0010191	aortic system	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010191		
MONDO:0001357	hypochromic anemia (disease)	biolink:Disease	mondo	UMLS:C0002884|NCIT:C34380|DOID:11759|HP:0001931|SCTID:44452003|ICD10:D50		anemia hypochromic|hypochromic anemia	http://purl.obolibrary.org/obo/MONDO_0001357	Anemia caused by the reduction of hemoglobin in relation to the red cell volume. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency.	UMLS:C0002884|NCIT:C34380|SNOMEDCT:44452003|DOID:11759
UBERON:0010192	genital artery	biolink:AnatomicalEntity	mondo			gonadal artery	http://purl.obolibrary.org/obo/UBERON_0010192	One of the laterally paired arteries that supply the gonads.	
MONDO:0013318	early repolarization associated with ventricular fibrillation	biolink:Disease	mondo	UMLS:C3150852|OMIM:613601		early repolarization associated with ventricular fibrillation|early repolarization syndrome	http://purl.obolibrary.org/obo/MONDO_0013318		http://identifiers.org/omim/613601|UMLS:C3150852
MONDO:0013319	chromosome 4Q32.1-q32.2 triplication syndrome	biolink:Disease	mondo	UMLS:C3150857|OMIM:613603		chromosome 4Q32.1-q32.2 triplication syndrome	http://purl.obolibrary.org/obo/MONDO_0013319		http://identifiers.org/omim/613603|UMLS:C3150857
MONDO:0001352	round ligament malignant neoplasm	biolink:Disease	mondo	SCTID:188204000|DOID:11748|UMLS:C0346867|ICD9:183.5|ICD10:C57.2		cancer of round ligament of uterus|round ligament of uterus cancer|malignant neoplasm of round ligament of uterus|malignant round ligament of uterus neoplasm|malignant neoplasm of round ligament	http://purl.obolibrary.org/obo/MONDO_0001352	A malignant neoplasm involving the round ligament of uterus.	SNOMEDCT:188204000|DOID:11748|UMLS:C0346867
MONDO:0001351	uterine adnexa cancer	biolink:Disease	mondo	DOID:11747|ICD9:183|ICD9:183.9|ICD10:C57.4			http://purl.obolibrary.org/obo/MONDO_0001351		DOID:11747
UBERON:0010199	bona-fide anatomical boundary	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010199	An anatomical boundary that corresponds to some physical discontinuity.	
MONDO:0001350	parametrium malignant neoplasm	biolink:Disease	mondo	SCTID:448674007|DOID:11746|COHD:40491000|ICD9:183.4|ICD10:C57.3|UMLS:C0153581		cancer of parametrium|parametrium cancer|malignant parametrium neoplasm|malignant neoplasm of parametrium	http://purl.obolibrary.org/obo/MONDO_0001350	A malignant neoplasm involving the parametrium.	DOID:11746|SNOMEDCT:448674007|UMLS:C0153581
WIKIDATA:Q525	Sol	biolink:OntologyClass	mondo			Sun	https://www.wikidata.org/wiki/Q525		
MONDO:0013323	cranioectodermal dysplasia 2	biolink:Disease	mondo	UMLS:C3150874|OMIM:613610		cranioectodermal dysplasia caused by mutation in WDR35|CRANIOECTODERMAL dysplasia 2; CED2|cranioectodermal dysplasia 2|WDR35 cranioectodermal dysplasia|Cranioectodermal dysplasia type 2|CED2	http://purl.obolibrary.org/obo/MONDO_0013323	Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene.	http://identifiers.org/omim/613610|UMLS:C3150874
MONDO:0015986	bilateral renal agenesis	biolink:Disease	mondo	DOID:0080200|Orphanet:1848|NCIT:C101219|ICD10:Q60.1	ordo_clinical_subtype	bilateral renal aplasia|renal agenesis, bilateral	http://purl.obolibrary.org/obo/MONDO_0015986	Bilateral renal agenesis is the most profound form of renal agenesis, characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.	DOID:0080200|ORPHA:1848|MESH:C536482|NCIT:C101219
MONDO:0015985	bone dysplasia, Azouz type	biolink:Disease	mondo	Orphanet:1844|UMLS:C4303993|GARD:0000920|SCTID:720566004|ICD10:Q78.4	gard_rare|ordo_malformation_syndrome	bone dysplasia Azouz type	http://purl.obolibrary.org/obo/MONDO_0015985	Bone dysplasia Azouz type is a form of generalized enchondromatosis with involvement of the spine (so called spondyloenchondromatosis). Spondyloenchondromatosis is a very rare skeletal dysplasia characterized by severe platyspondyly, and mild involvement of hands and feet.	ORPHA:1844|UMLS:C4303993|SNOMEDCT:720566004
MONDO:0013324	lymphedema-posterior choanal atresia syndrome	biolink:Disease	mondo	Orphanet:99141|UMLS:C3150875|OMIM:613611|ICD10:Q82.0	ordo_malformation_syndrome	choanal atresia and lymphedema; CATLPH|choanal atresia and lymphedema|CATLPH	http://purl.obolibrary.org/obo/MONDO_0013324		ORPHA:99141|http://identifiers.org/omim/613611|UMLS:C3150875
CHEBI:64459	biaryl	biolink:ChemicalSubstance	mondo			biaryls	http://purl.obolibrary.org/obo/CHEBI_64459	An organic aromatic compound whose structure contains two aromatic rings or ring systems, joined to each other by a single bond.	
MONDO:0015984	obsolete rare genetic immune disease	biolink:Disease	mondo	Orphanet:183770|UMLS:CN200582	ordo_group_of_disorders|obsoletion_candidate	rare genetic immune system disease	http://purl.obolibrary.org/obo/MONDO_0015984	Rare genetic immune system disease.	ORPHA:183770|UMLS:CN200582
MONDO:0013321	FWS	biolink:Disease	mondo	UMLS:C3150859|OMIM:613606		FWS|microcephaly and Growth retardation with childhood-onset nephrotic syndrome and thrombocytopenia|FORSYTHE-WAKELING syndrome; FWS|FORSYTHE-WAKELING syndrome	http://purl.obolibrary.org/obo/MONDO_0013321		http://identifiers.org/omim/613606|UMLS:C3150859
MONDO:0015983	obsolete rare genetic syndromic intellectual disability	biolink:Disease	mondo	UMLS:CN226822|Orphanet:183763	ordo_group_of_disorders|obsoletion_candidate	rare genetic syndromic intellectual disability	http://purl.obolibrary.org/obo/MONDO_0015983	Rare genetic syndromic intellectual disability.	ORPHA:183763|UMLS:CN226822
MONDO:0013322	FAME3	biolink:Disease	mondo	MESH:C567098|UMLS:C3150860|OMIM:613608|DOID:0111695		FAME3|cortical myoclonic tremor with epilepsy, familial, 3|epilepsy, familial ADULT myoclonic, 3; FAME3|epilepsy, familial ADULT myoclonic, 3	http://purl.obolibrary.org/obo/MONDO_0013322		MESH:C567098|http://identifiers.org/omim/613608|DOID:0111695|UMLS:C3150860
MONDO:0013327	primary hyperoxaluria type 3	biolink:Disease	mondo	Orphanet:93600|NCIT:C123214|DOID:0111672|UMLS:C3150878|SCTID:734990008|ICD10:E74.8|GARD:0010738|OMIM:613616	gard_rare|ordo_clinical_subtype	HP3|HOGA1 primary hyperoxaluria|primary hyperoxaluria type III|PH III|primary hyperoxaluria caused by mutation in HOGA1|hyperoxaluria, primary, type III|hyperoxaluria, primary, type 3|hyperoxaluria, primary, type III; HP3	http://purl.obolibrary.org/obo/MONDO_0013327	Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis.	ORPHA:93600|NCIT:C123214|http://identifiers.org/omim/613616|SNOMEDCT:734990008|DOID:0111672|UMLS:C3150878
MONDO:0015989	congenital valvular dysplasia	biolink:Disease	mondo	Orphanet:1864|SCTID:718128009|ICD10:Q24.8	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0015989	1/100,000) usually diagnosed by echocardiography. It may be limited to one of the four valves but can also involve the two atrioventricular valves and the two semilunar valves. When it is associated with either stenosis or regurgitation of the affected valve(s), the symptoms depend on the degree of obstruction or on the volume of regurgitation.	SNOMEDCT:718128009|ORPHA:1864
MONDO:0013328	retinitis pigmentosa 58	biolink:Disease	mondo	DOID:0110362|UMLS:C3150879|OMIM:613617|ICD10:H35.5		retinitis pigmentosa caused by mutation in ZNF513|RP58|retinitis pigmentosa 58; RP58|retinitis pigmentosa 58|ZNF513 retinitis pigmentosa|retinitis pigmentosa type 58	http://purl.obolibrary.org/obo/MONDO_0013328	Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF513 gene.	http://identifiers.org/omim/613617|UMLS:C3150879|DOID:0110362
MONDO:0013325	COG5-CDG	biolink:Disease	mondo	OMIM:613612|UMLS:C3150876|ICD10:E77.8|GARD:0012348|SCTID:721100009|DOID:0070261|Orphanet:263487|GARD:0001173	gard_rare|ordo_disease	CDG III|congenital disorder of glycosylation type III|CDG syndrome type III|congenital disorder of glycosylation, type III|congenital disorder of glycosylation type 2i|CDG syndrome type 3|congenital disorder of glycosylation, type III; CDG2I|carbohydrate deficient glycoprotein syndrome type III|CDG-III|CDG2I|COG5-CDG (CDG-III)	http://purl.obolibrary.org/obo/MONDO_0013325	COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.	DOID:0070261|SNOMEDCT:721100009|http://identifiers.org/omim/613612|UMLS:C3150876|ORPHA:263487
MONDO:0015988	multicystic dysplastic kidney	biolink:Disease	mondo	SCTID:204962002|Orphanet:1851|NCIT:C123031|ICD10:Q61.4|UMLS:C3714581|MESH:D021782|ICD9:753.19	ordo_morphological_anomaly	multicystic renal dysplasia|MCDK	http://purl.obolibrary.org/obo/MONDO_0015988	Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional.	UMLS:C0345335|UMLS:C3714581|ORPHA:1851|SNOMEDCT:204962002|NCIT:C123031|MESH:D021782
MONDO:0040998	Pasteurella multocida infectious disease	biolink:Disease	mondo	GARD:0009774|SCTID:197718007|UMLS:C1260911		infection caused by Pasteurella multocida|infection by Pasteurella multocida	http://purl.obolibrary.org/obo/MONDO_0040998		UMLS:C1260911|SNOMEDCT:197718007
MONDO:0015987	scimitar syndrome	biolink:Disease	mondo	NCIT:C85056|Orphanet:185|ICD9:747.49|SCTID:39905002|ICD10:Q26.8|MedDRA:10051951|UMLS:C0036400|MESH:D012587	ordo_malformation_syndrome	Epibronchial right pulmonary vein syndrome|Halasz syndrome|congenital pulmonary venolobar syndrome|hypogenetic lung syndrome	http://purl.obolibrary.org/obo/MONDO_0015987	Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt.	ORPHA:185|MESH:D012587|UMLS:C0036400|MEDDRA:10051951|NCIT:C85056|SNOMEDCT:39905002
MONDO:0013326	Senior-Loken syndrome 7	biolink:Disease	mondo	OMIM:613615|UMLS:C3150877		Senior-Loken syndrome caused by mutation in SDCCAG8|Senior-Loken syndrome 7|Senior-Loken syndrome type 7|SLSN7|SENIOR-Loken syndrome 7; SLSN7|SDCCAG8 Senior-Loken syndrome	http://purl.obolibrary.org/obo/MONDO_0013326	Any Senior-Loken syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene.	http://identifiers.org/omim/613615|UMLS:C3150877
ENVO:01000280	ecozone	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000280	Ecozones delineate large areas of a planetary surface within which organisms have been evolving in relative isolation over long periods of time, separated from one another by geographic features, such as oceans, broad deserts, or high mountain ranges, that constitute barriers to migration.	
MONDO:0015982	obsolete rare genetic intellectual disability	biolink:Disease	mondo	Orphanet:183757|UMLS:CN226821	ordo_group_of_disorders|obsoletion_candidate	rare genetic intellectual disability	http://purl.obolibrary.org/obo/MONDO_0015982	Rare genetic intellectual disability.	UMLS:CN226821|ORPHA:183757
MONDO:0013320	chromosome 16p12.2-p11.2 deletion syndrome	biolink:Disease	mondo	ICD10:Q93.5|SCTID:719576009|UMLS:C4304597|DOID:0060400|OMIM:613604|Orphanet:261211|UMLS:C3150858	ordo_malformation_syndrome	chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-MB|Del(16)(p11.2p12.2)|16p11.2-p12.2 microdeletion syndrome|monosomy 16p11.2-p12.2|16p11.2p12.2 microdeletion syndrome|monosomy 16p11.2p12.2	http://purl.obolibrary.org/obo/MONDO_0013320	16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.	http://identifiers.org/omim/613604|SNOMEDCT:719576009|UMLS:C4304597|UMLS:C3150858|DOID:0060400|ORPHA:261211
MONDO:0015981	obsolete inherited gynecological tumor	biolink:Disease	mondo	UMLS:CN200581|Orphanet:183734	ordo_group_of_disorders	rare genetic female reproductive system tumor|genetic gynecological tumor	http://purl.obolibrary.org/obo/MONDO_0015981		UMLS:CN200581|ORPHA:183734
ENVO:01000281	layer	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000281	A layer is a quantity of some material which is spatially continuous, has comparable thickness, and usually covers some surface.	
MONDO:0015980	obsolete rare genetic gynecological and obstetrical diseases	biolink:Disease	mondo	Orphanet:183731|UMLS:CN200580	ordo_group_of_disorders|obsoletion_candidate	rare genetic female reproductive system disease	http://purl.obolibrary.org/obo/MONDO_0015980		UMLS:CN200580|ORPHA:183731
ENVO:01000283	lake layer	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000283	A layer which is part of a lake.	
MONDO:0025377	African swine fever	biolink:Disease	mondo	MESH:D000357|UMLS:C0001752		wart-Hog diseases|wart Hog disease|swine fever, African|wart-Hog disease	http://purl.obolibrary.org/obo/MONDO_0025377	A sometimes fatal asfivirus infection of pigs, characterized by fever, cough, diarrhea, hemorrhagic lymph nodes, and edema of the gallbladder. It is transmitted between domestic swine by direct contact, ingestion of infected meat, or fomites, or mechanically by biting flies or soft ticks (genus Ornithodoros).	UMLS:C0001752|MESH:D000357
NCBITaxon:11027		organism taxon	mondo				http://purl.obolibrary.org/obo/NCBITaxon_11027		
NCBITaxon:11029	Ross River virus	organism taxon	mondo	GC_ID:1		RRV	http://purl.obolibrary.org/obo/NCBITaxon_11029		
MONDO:0025370	urogenital neoplasm	biolink:Disease	mondo	MESH:D014565|EFO:0003863		tumor of genitourinary system|neoplasms, genitourinary|neoplasm, urogenital|genitourinary neoplasms|neoplasms, genito-urinary|neoplasm of genitourinary system|genito-urinary neoplasm|genitourinary system tumor|genito-urinary neoplasms|urogenital neoplasm|neoplasm, genito-urinary|neoplasm, genitourinary|genitourinary neoplasm|genitourinary system neoplasm|neoplasms, urogenital	http://purl.obolibrary.org/obo/MONDO_0025370	Tumors or cancer of the urogenital system in either the male or the female.	MESH:D014565
MONDO:0025371	Parvoviridae infectious disease	biolink:Disease	mondo	MESH:D010322|ICD9:078.89|SCTID:83223005		infections, Parvovirus|disease due to Parvoviridae|Parvoviridae infection|Parvovirus infection|disease caused by Parvoviridae|Parvoviridae caused disease or disorder|Parvovirus infections|Parvoviridae disease or disorder|infection, Parvoviridae|infection, Parvovirus|infections, Parvoviridae	http://purl.obolibrary.org/obo/MONDO_0025371	Virus infections caused by the parvoviridae.	SNOMEDCT:83223005|MESH:D010322
NCBITaxon:374468	Nakaseomyces	organism taxon	mondo	PMID:14654427|GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_374468		
MONDO:0025376	African horse sickness	biolink:Disease	mondo	MESH:D000355|UMLS:C0001748		horse sickness, African|sickness, African horse|equine Plagues|African Horsesickness|African Horsesicknesses|African horse Sicknesses|Horsesicknesses, African|Horsesickness, African|plague, equine|Plagues, equine|equine plague|horse Sicknesses, African|Sicknesses, African horse	http://purl.obolibrary.org/obo/MONDO_0025376	An insect-borne reovirus infection of horses, mules and donkeys in Africa and the Middle East; characterized by pulmonary edema, cardiac involvement, and edema of the head and neck.	MESH:D000355|UMLS:C0001748
MONDO:0013398	acne inversa, familial, 3	biolink:Disease	mondo	OMIM:613737|UMLS:C3151038		ACNINV3|acne inversa, familial, 3|PSEN1 familial acne inversa|acne inversa, familial, 3; ACNINV3|acne inversa, familial, type 3|familial acne inversa caused by mutation in PSEN1	http://purl.obolibrary.org/obo/MONDO_0013398	Any familial acne inversa in which the cause of the disease is a mutation in the PSEN1 gene.	http://identifiers.org/omim/613737|UMLS:C3151038
MONDO:0013399	obsolete cardiomyopathy, dilated, 1T	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0013399		
MONDO:0040923	late latent syphilis	biolink:Disease	mondo	UMLS:C1260915|NCIT:C128371|SCTID:186903006		late latent syphilis	http://purl.obolibrary.org/obo/MONDO_0040923	Latent syphilis when infection was acquired more than twelve months previously.	UMLS:C1260915|SNOMEDCT:186903006|NCIT:C128371
MONDO:0040922	latent early syphilis	biolink:Disease	mondo	SCTID:186867005|UMLS:C0275842		latent early syphilis	http://purl.obolibrary.org/obo/MONDO_0040922		SNOMEDCT:186867005|UMLS:C0275842
MONDO:0013392	autosomal recessive spinocerebellar ataxia 10	biolink:Disease	mondo	Orphanet:284289|OMIM:613728|DOID:0050999|UMLS:C3150998|ICD10:G11.2	ordo_disease	ANO10 autosomal recessive cerebellar ataxia|spinocerebellar ataxia, autosomal recessive 10; SCAR10|autosomal recessive spinocerebellar ataxia type 10|autosomal recessive cerebellar ataxia caused by mutation in ANO10|SCAR10|spinocerebellar ataxia, autosomal recessive type 10|adult-onset autosomal recessive cerebellar ataxia|spinocerebellar ataxia, autosomal recessive 10	http://purl.obolibrary.org/obo/MONDO_0013392	Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the ANO10 gene.	http://identifiers.org/omim/613728|ORPHA:284289|DOID:0050999|UMLS:C3150998
MONDO:0013393	distal 7q11.23 microdeletion syndrome	biolink:Disease	mondo	ICD10:Q93.5|UMLS:C3150999|OMIM:613729|Orphanet:254351	ordo_malformation_syndrome	chromosome 7q11.23 deletion syndrome, distal, 1.2-MB|distal del(7)(q11.23)|distal monosomy 7q11.23|distal chromosome 7Q11.23 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0013393	Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression).	http://identifiers.org/omim/613729|ORPHA:254351|UMLS:C3150999
ENVO:01000230	arid	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000230	An environmental condition in which annual precipitation is less than half of annual potential evapotranspiration.	
ENVO:01000231	lava	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000231	Lava is a mixture of molten or semi-molten rock, volatiles, and solids which has extruded beyond a planetary crust.	
MONDO:0013390	autosomal recessive limb-girdle muscular dystrophy type 2Q	biolink:Disease	mondo	UMLS:C3150989|DOID:0110285|ICD10:G71.0|OMIM:613723|Orphanet:254361|GARD:0012542	ordo_disease	muscular dystrophy, limb-girdle, type 2Q; LGMD2Q|limb-girdle muscular dystrophy type 2Q|muscular dystrophy, limb-girdle, type 2Q|autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency|LGMD2Q	http://purl.obolibrary.org/obo/MONDO_0013390	Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is a form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.	http://identifiers.org/omim/613723|ORPHA:254361|DOID:0110285|UMLS:C3150989
MONDO:0013391	leukoencephalopathy-dystonia-motor neuropathy syndrome	biolink:Disease	mondo	Orphanet:163684|ICD10:E75.2|GARD:0012471|UMLS:C3150990|OMIM:613724	ordo_disease	leukoencephalopathy with dystonia and motor neuropathy|sterol carrier Protein 2 deficiency|LKDMN|leukoencephalopathy with dystonia and motor neuropathy; LKDMN|leukoencephalopathy - dystonia - motor neuropathy	http://purl.obolibrary.org/obo/MONDO_0013391	Leukoencephalopathy-dystonia-motor neuropathy syndrome is a peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.	http://identifiers.org/omim/613724|ORPHA:163684|UMLS:C3150990
MONDO:0040925	latent yaws	biolink:Disease	mondo	UMLS:C0153240|SCTID:186973005		latent yaws	http://purl.obolibrary.org/obo/MONDO_0040925		SNOMEDCT:186973005|UMLS:C0153240
MONDO:0013396	chromosome 1p32-p31 deletion syndrome	biolink:Disease	mondo	DOID:0060409|OMIM:613735|SCTID:766766005|ICD10:Q93.5|UMLS:CN226149|UMLS:C3151036|Orphanet:401986	ordo_malformation_syndrome	monosomy 1p31p32|BRMUTD|brain malformations with or without urinary tract defects|chromosome 1p32-p31 deletion syndrome|brain malformations with or without urinary tract defects; BRMUTD|Del(1)(p31p32)|1p31p32 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0013396	1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.	SNOMEDCT:766766005|UMLS:CN226149|ORPHA:401986|http://identifiers.org/omim/613735|UMLS:C3151036|DOID:0060409
MONDO:0013397	acne inversa, familial, 2	biolink:Disease	mondo	OMIM:613736|UMLS:C3151037		acne inversa, familial, 2, with or without Dowling-Degos disease|acne inversa, familial, 2|ACNINV2|familial acne inversa caused by mutation in PSENEN|PSENEN familial acne inversa|acne inversa, familial, 2, with or without Dowling-Degos disease; ACNINV2|acne inversa, familial, 2; ACNINV2|acne inversa, familial, type 2	http://purl.obolibrary.org/obo/MONDO_0013397	Any familial acne inversa in which the cause of the disease is a mutation in the PSENEN gene.	http://identifiers.org/omim/613736|UMLS:C3151037
NCBITaxon:11020	Barmah Forest virus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_11020		
MONDO:0013394	porencephaly-microcephaly-bilateral congenital cataract syndrome	biolink:Disease	mondo	Orphanet:306547|OMIM:613730|UMLS:C3151000	ordo_malformation_syndrome	hemorrhagic destruction of the brain, subependymal calcification, and cataracts; HDBSCC|HDBSCC|hemorrhagic destruction of the brain, subependymal calcification, and cataracts	http://purl.obolibrary.org/obo/MONDO_0013394		ORPHA:306547|http://identifiers.org/omim/613730|UMLS:C3151000
MONDO:0013395	retinitis pigmentosa 4	biolink:Disease	mondo	ICD10:H35.5|OMIM:613731|MESH:C566706|GARD:0010405|DOID:0110372|HGNC:10012|UMLS:C3151001	gard_rare	RHO retinitis pigmentosa|retinitis pigmentosa, rhodopsin-related|retinitis pigmentosa caused by mutation in RHO|RP 4|RP4|retinitis pigmentosa 4|retinitis pigmentosa 4; RP4|retinitis pigmentosa type 4	http://purl.obolibrary.org/obo/MONDO_0013395	Any retinitis pigmentosa in which the cause of the disease is a mutation in the RHO gene.	http://identifiers.org/omim/613731|UMLS:C3151001|MESH:C566706|DOID:0110372
NCBITaxon:11036	Venezuelan equine encephalitis virus	organism taxon	mondo	GC_ID:1		VEEV|VEE|Venezuelan equine encephalomyelitis virus|Venezuelan equine encephalitis VEE|Venezuelan equine encephalitis virus VEE	http://purl.obolibrary.org/obo/NCBITaxon_11036		
MONDO:0025369	Nairobi sheep disease	biolink:Disease	mondo	MESH:D009265|SCTID:24069003|UMLS:C0027345		sheep disease, Nairobi|disease, Nairobi sheep	http://purl.obolibrary.org/obo/MONDO_0025369	An arbovirus infection of sheep and goats transmitted by ticks. It is characterized by high fever and hemorrhagic gastroenteritis.	SNOMEDCT:24069003|UMLS:C0027345|MESH:D009265
NCBITaxon:11039	Western equine encephalitis virus	organism taxon	mondo	GC_ID:1		Western equine encephalomyelitis virus	http://purl.obolibrary.org/obo/NCBITaxon_11039		
HGNC:26742	NAT8L	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26742		
CL:0000295	somatotropin secreting cell	biolink:Cell	mondo			somatotrophin secreting cell|growth hormone secreting cell	http://purl.obolibrary.org/obo/CL_0000295	A peptide hormone secreting cell that produces growth hormone, somatotropin.	
MONDO:0013389	developmental and epileptic encephalopathy, 12	biolink:Disease	mondo	DOID:0080459|UMLS:C3150988|GARD:0013318|OMIM:613722	gard_rare	early infantile epileptic encephalopathy caused by mutation in PLCB1|early infantile epileptic encephalopathy 12|epileptic encephalopathy, early infantile, 12; EIEE12|epileptic encephalopathy, early infantile, 12|DEE12|PLCB1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, type 12|EIEE12	http://purl.obolibrary.org/obo/MONDO_0013389	Early Infantile Epileptic Encephalopathy type 12 (EIEE12) is an extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion.	UMLS:C3150988|http://identifiers.org/omim/613722|DOID:0080459
ECTO:9000016	hydrogen chloride exposure	biolink:OntologyClass	mondo			exposure to hydrogen chloride	http://purl.obolibrary.org/obo/ECTO_9000016	An exposure to hydrogen chloride.	
MONDO:0013387	developmental and epileptic encephalopathy, 7	biolink:Disease	mondo	Orphanet:439218|GARD:0013060|UMLS:C3150986|OMIM:613720|ICD10:G40.4|DOID:0080462	ordo_disease|clingen	KCNQ2-related disorders|KCNQ2-related epileptic encephalopathy|KCNQ2-NEE|epileptic encephalopathy, early infantile, 7; EIEE7|DEE7|epileptic encephalopathy, early infantile, type 7|KCNQ2-related neonatal epileptic encephalopathy|EIEE7|epileptic encephalopathy, early infantile, 7	http://purl.obolibrary.org/obo/MONDO_0013387	KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability.	UMLS:C3150986|ORPHA:439218|http://identifiers.org/omim/613720|DOID:0080462
ECTO:9000019	acetic acid exposure	biolink:OntologyClass	mondo			exposure to acetic acid	http://purl.obolibrary.org/obo/ECTO_9000019	An exposure to acetic acid.	
MONDO:0013388	developmental and epileptic encephalopathy, 11	biolink:Disease	mondo	UMLS:C3150987|DOID:0080421|OMIM:613721		epileptic encephalopathy, early infantile, 11|epileptic encephalopathy, early infantile, type 11|epileptic encephalopathy, early infantile, 11; EIEE11|DEE11|early infantile epileptic encephalopathy caused by mutation in SCN2A|EIEE11|SCN2A early infantile epileptic encephalopathy	http://purl.obolibrary.org/obo/MONDO_0013388	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN2A gene.	UMLS:C3150987|http://identifiers.org/omim/613721|DOID:0080421
MONDO:0013381	neuropathy, hereditary sensory, type 1D	biolink:Disease	mondo	UMLS:C3150972|DOID:0070156|OMIM:613708		neuropathy, hereditary sensory, type ID; HSN1D|HSN1D|hereditary sensory neuropathy type 1D|neuropathy, hereditary sensory, type ID|hereditary sensory neuropathy type ID	http://purl.obolibrary.org/obo/MONDO_0013381	A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy that has material basis in heterozygous mutation in the ATL1 gene on chromosome 14q.	DOID:0070156|http://identifiers.org/omim/613708|UMLS:C3150972
MONDO:0013382	progressive demyelinating neuropathy with bilateral striatal necrosis	biolink:Disease	mondo	OMIM:613710|UMLS:C3150973|Orphanet:217396	ordo_disease	bilateral striatal Degeneration and progressive polyneuropathy|THMD4|thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type); THMD4|thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type)|progressive polyneuropathy with bilateral striatal necrosis|striatal Necrosis, bilateral, and progressive polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0013382	Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities.	ORPHA:217396|http://identifiers.org/omim/613710|UMLS:C3150973
MONDO:0013380	LEOPARD syndrome 3	biolink:Disease	mondo	UMLS:C3150971|OMIM:613707|DOID:0080550		BRAF Noonan syndrome with multiple lentigines|leopard syndrome 3|LPRD3|Leopard syndrome type 3|LEOPARD syndrome 3; LPRD3|Noonan syndrome with multiple lentigines caused by mutation in BRAF	http://purl.obolibrary.org/obo/MONDO_0013380	Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the BRAF gene.	http://identifiers.org/omim/613707|DOID:0080550|UMLS:C3150971
MONDO:0013385	Treacher Collins syndrome 2	biolink:Disease	mondo	UMLS:C3150983|OMIM:613717		TREACHER COLLINS syndrome 2; TCS2|Treacher Collins syndrome 2|POLR1D Treacher-Collins syndrome|Treacher Collins syndrome type 2|Treacher-Collins syndrome caused by mutation in POLR1D|TCS2	http://purl.obolibrary.org/obo/MONDO_0013385	Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1D gene.	http://identifiers.org/omim/613717|UMLS:C3150983
MONDO:0013386	autosomal recessive nonsyndromic deafness 74	biolink:Disease	mondo	DOID:0110523|OMIM:613718|UMLS:C2239351|ICD10:H90.3	clingen	deafness, autosomal recessive type 74|deafness, autosomal recessive 74|MSRB3 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 74; DFNB74|autosomal recessive nonsyndromic deafness type 74|autosomal recessive nonsyndromic deafness caused by mutation in MSRB3|autosomal recessive deafness 74|DFNB74	http://purl.obolibrary.org/obo/MONDO_0013386	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MSRB3 gene.	UMLS:C2239351|http://identifiers.org/omim/613718|DOID:0110523
MONDO:0013383	Hirschsprung disease, susceptibility to, 3	biolink:Disease	mondo	MESH:C538121|UMLS:C2931739|OMIM:613711|GARD:0002699	gard_rare|predisposition	Hirschsprung disease type 3|susceptibility to Hirschsprung disease 3|Hirschsprung disease, susceptibility to, 3|GDNF Hirschsprung disease|Hirschsprung disease modifier|Hirschsprung disease caused by mutation in GDNF|Hirschsprung disease, susceptibility to, type 3|HSCR3|Hirschsprung disease, susceptibility to, 3; HSCR3	http://purl.obolibrary.org/obo/MONDO_0013383		UMLS:C2931739|MESH:C538121|http://identifiers.org/omim/613711
MONDO:0013384	Hirschsprung disease, susceptibility to, 4	biolink:Disease	mondo	OMIM:613712	predisposition	Hirschsprung disease, susceptibility to, 4; HSCR4|susceptibility to Hirschsprung disease 4|Hirschsprung disease, susceptibility to, 4|HSCR4|EDN3 Hirschsprung disease|Hirschsprung disease caused by mutation in EDN3|Hirschsprung disease, susceptibility to, type 4	http://purl.obolibrary.org/obo/MONDO_0013384	Any Hirschsprung disease in which the cause of the disease is a mutation in the EDN3 gene.	http://identifiers.org/omim/613712
MONDO:0001389	congenital coronary artery anomaly	biolink:Disease	mondo	DOID:11843|COHD:321109|ICD9:746.85|SCTID:28574005		coronary artery anomaly, congenital|coronary artery abnormality|coronary artery anomaly|coronary artery abnormality [ambiguous]|congenital anomaly of coronary artery	http://purl.obolibrary.org/obo/MONDO_0001389		DOID:11843|SNOMEDCT:28574005
MONDO:0001388	glans penis cancer	biolink:Disease	mondo	SCTID:363451005|ICD10:C60.1|ICD9:187.2|DOID:11839|UMLS:C0153599		malignant glans penis neoplasm|malignant neoplasm of glans penis|malignant tumor of glans penis|cancer of glans penis|malignant tumour of glans penis|glans penis cancer	http://purl.obolibrary.org/obo/MONDO_0001388	A malignant neoplasm involving the glans penis.	SNOMEDCT:363451005|DOID:11839|UMLS:C0153599
MONDO:0001387	penile sarcoma	biolink:Disease	mondo	NCIT:C7730|DOID:11838|UMLS:C0238352		penis sarcoma|sarcoma of penis|penile sarcoma|sarcoma of the penis	http://purl.obolibrary.org/obo/MONDO_0001387	A malignant soft tissue neoplasm that arises from the penis. Representative examples include Kaposi sarcoma, leiomyosarcoma, and angiosarcoma.	NCIT:C7730|DOID:11838|UMLS:C0238352
MONDO:0001386	visual epilepsy	biolink:Disease	mondo	DOID:11832|UMLS:C0270824|SCTID:39194005|MESH:D012640|NCIT:C3980		epilepsy, visual	http://purl.obolibrary.org/obo/MONDO_0001386	Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as epilepsy or 'seizure disorder.'	DOID:11832|NCIT:C3980|UMLS:C0270824|MESH:D012640|SNOMEDCT:39194005
ECTO:7000008	exposure to clay	biolink:OntologyClass	mondo			clay exposure	http://purl.obolibrary.org/obo/ECTO_7000008	A exposure event involving the interaction of an exposure receptor to clay.	
ENVO:01000256	mineral material	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000256	A mineral material is an environmental material which is primarily composed of some substance that is naturally occurring, solid and stable at room temperature, representable by a chemical formula, usually abiogenic, and that has an ordered atomic structure.	
MONDO:0001381	bladder lymphoma	biolink:Disease	mondo	UMLS:C1332561|NCIT:C6164|DOID:11821		lymphoma of urinary bladder|primary bladder lymphoma|urinary bladder lymphoma|lymphoma of the urinary bladder|lymphoma of the bladder|lymphoma of bladder	http://purl.obolibrary.org/obo/MONDO_0001381	A lymphoma that involves the urinary bladder.	DOID:11821|UMLS:C1332561|NCIT:C6164
MONDO:0001380	bladder dome cancer	biolink:Disease	mondo	SCTID:188240003|ICD10:C67.1|UMLS:C0496827|ICD9:188.1|DOID:11820		malignant neoplasm of fundus of urinary bladder|malignant neoplasm of dome of urinary bladder|fundus of urinary bladder cancer|malignant fundus of urinary bladder neoplasm|superior surface of bladder|malignant tumor of vault of bladder|cancer of fundus of urinary bladder|malignant neoplasm of apex of urinary bladder	http://purl.obolibrary.org/obo/MONDO_0001380	Cancer of the upper, convex surface of the bladder.	DOID:11820|NCIT:C12332|UMLS:C0496827|SNOMEDCT:188240003
MONDO:0001385	cortical blindness	biolink:Disease	mondo	MESH:D019575|SCTID:68574006|DOID:11831|NCIT:C118707|COHD:253482|ICD9:377.75|UMLS:C0155320|ICD10:H47.61			http://purl.obolibrary.org/obo/MONDO_0001385	Visual impairment due to visual cortex dysfunction.	MESH:D019575|UMLS:C0155320|DOID:11831|SNOMEDCT:68574006|NCIT:C118707
MONDO:0001384	myopia (disease)	biolink:Disease	mondo	EFO:0003927|DOID:11830|UMLS:C0027092|COHD:379805|ICD10:H52.1|ICD9:367.1|SCTID:57190000|MESH:D009216|HP:0000545|OMIMPS:160700		near vision|near-sightedness|short-sightedness|myopia	http://purl.obolibrary.org/obo/MONDO_0001384	The condition in which the individual does not see far distances clearly.	NCIT:C102533|DOID:11830|UMLS:C0027092|MESH:D009216|SNOMEDCT:57190000
MONDO:0001383	degenerative myopia	biolink:Disease	mondo	COHD:381281|ICD9:360.21|MESH:D047728|DOID:11829|UMLS:C0154778|SCTID:32022003|ICD10:H44.2|EFO:0004207		pathological myopia|progressive high (degenerative) myopia|progressive high myopia|degenerative progressive high myopia	http://purl.obolibrary.org/obo/MONDO_0001383	Excessive axial myopia associated with complications (especially posterior staphyloma and choroidal neovascularization) that can lead to blindness.	SNOMEDCT:32022003|MESH:D047728|DOID:11829|UMLS:C0154778
MONDO:0001382	hepatorenal syndrome	biolink:Disease	mondo	ICD9:572.4|GARD:0006610|NCIT:C113400|UMLS:C0019212|SCTID:51292008|MESH:D006530|COHD:196455|ICD10:K76.7|DOID:11823	gard_rare	hepato-renal syndrome	http://purl.obolibrary.org/obo/MONDO_0001382	Hepatorenal syndrome is a form of impaired kidney function that occurs in individuals with advanced chronic liver disease. As many as 40% of individuals with cirrhosis and ascites will develop hepatorenal syndrome. Symptoms may include fatigue, abdominal pain, and a general feeling of ill health (malaise). There are two distinct types of hepatorenal syndrome. Type I progresses quickly (within days), leading to kidney failure. Individuals with type I typically have dramatically reduced urine output, edema, and jaundice, and often suffer from hepatic encephalopathy. Type II progresses more slowly, over weeks or months, and the symptoms are less severe. The cause of hepatorenal syndrome is unknown. A contributing factor seems to be a narrowing of the blood vessels that connect into the kidneys. This causes a decrease in blood flow to the kidneys, impairing their function. In some cases, triggers or precipitating factors (infections, blood loss from the gastrointestinal tract, low blood pressure) are involved. Treatment is aimed at helping the liver work better and maintaining kidney function. In many cases, a liver transplant is needed. In some cases, individuals also need a kidney transplant.	NCIT:C113400|MESH:D006530|DOID:11823|SNOMEDCT:51292008|UMLS:C0019212
PO:0009085	exocarp	biolink:OntologyClass	mondo	PO_GIT:149|PO_GIT:511	Tomato|Citrus	epicarp (exact)|fruit epidermis (exact)|ectocarp (exact)|flavedo (exact)|exocarpo (Spanish, exact)|outer epidermis of pericarp (related)|portion of exocarp tissue (exact)|外果皮 (Japanese, exact)|pericarp epidermis (related)	http://purl.obolibrary.org/obo/PO_0009085	A portion of plant tissue (PO:0009007) that is the outer layer of a pericarp (PO:0009084).	
MONDO:0013378	orofacial cleft 10	biolink:Disease	mondo	MESH:C566605|OMIM:613705|DOID:0080403		orofacial cleft 10|SUMO1 orofacial cleft|orofacial cleft 10; OFC10|OFC10|orofacial cleft caused by mutation in SUMO1|cleft lip with or without cleft palate, nonsyndromic, 10|orofacial cleft type 10	http://purl.obolibrary.org/obo/MONDO_0013378	Any orofacial cleft in which the cause of the disease is a mutation in the SUMO1 gene.	http://identifiers.org/omim/613705|DOID:0080403|MESH:C566605
MONDO:0013379	Noonan syndrome 7	biolink:Disease	mondo	DOID:0060585|OMIM:613706|UMLS:C3150970		Noonan syndrome type 7|Noonan syndrome 7|Noonan syndrome caused by mutation in BRAF|BRAF Noonan syndrome|Noonan syndrome 7; NS7|NS7	http://purl.obolibrary.org/obo/MONDO_0013379	Any Noonan syndrome in which the cause of the disease is a mutation in the BRAF gene.	UMLS:C3150970|DOID:0060585|http://identifiers.org/omim/613706
PO:0009086	endocarp	biolink:OntologyClass	mondo	PO_GIT:149|PO_GIT:511	Arabidopsis|Maize|Tomato|Rice|Citrus|Poaceae	inner epidermis of pericarp (related)|endocarpo (Spanish, exact)|citrus pulp (related)|citrus flesh (related)|portion of endocarp tissue (exact)|内果皮 (Japanese, exact)	http://purl.obolibrary.org/obo/PO_0009086	A portion of plant tissue (PO:0009007) that is the innermost differentiated layer of a pericarp (PO:0009084).	
MONDO:0013376	microphthalmia, isolated, with coloboma 6	biolink:Disease	mondo	UMLS:C3150968|OMIM:613703		microphthalmia, isolated, with coloboma type 6|MCOPCB6|microphthalmia, isolated, with coloboma 6; MCOPCB6|microphthalmia, isolated, with coloboma 6	http://purl.obolibrary.org/obo/MONDO_0013376		UMLS:C3150968|http://identifiers.org/omim/613703
PO:0009087	mesocarp	biolink:OntologyClass	mondo	PO_GIT:149|PO_GIT:511	Tomato|Citrus	mesocarpo (Spanish, exact)|albedo (related)|portion of mesocarp tissue (exact)|中果皮 (Japanese, exact)	http://purl.obolibrary.org/obo/PO_0009087	A portion of plant tissue (PO:0009007) that is the middle layer of a pericarp (PO:0009084).	
MONDO:0013377	isolated microphthalmia 7	biolink:Disease	mondo	DOID:0060838|ICD10:Q11.0|UMLS:C3150969|OMIM:613704		microphthalmia, isolated 7|GDF3 isolated microphthalmia|MCOP7|microphthalmia, isolated type 7|isolated microphthalmia caused by mutation in GDF3|isolated microphthalmia type 7|microphthalmia, isolated 7; MCOP7	http://purl.obolibrary.org/obo/MONDO_0013377	Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF3 gene.	UMLS:C3150969|DOID:0060838|http://identifiers.org/omim/613704
PO:0009084	pericarp	biolink:OntologyClass	mondo	PO_GIT:149|PO_GIT:511	Maize|Arabidopsis|Tomato|Rice|Citrus|Poaceae	fruit rind (related)|fruit peel (related)|果皮 (Japanese, exact)|pericarpo (Spanish, exact)|portion of pericarp tissue (exact)	http://purl.obolibrary.org/obo/PO_0009084	A portion of plant tissue (PO:0009007) that is the outer layer (wall) of a fruit (PO:0009001), and develops from a plant ovary (PO:0009072) or a carpel (PO:0009030) wall.	
MONDO:0013370	long QT syndrome 6	biolink:Disease	mondo	HGNC:6242|GARD:0010434|DOID:0110648|OMIM:613693|ICD10:I45.8|MESH:C566333|UMLS:C3150953	gard_rare	LQT6|long QT syndrome 3/6, digenic|long QT syndrome 6; LQT6|long QT syndrome 6, acquired, susceptibility to|long QT syndrome caused by mutation in KCNE2|long QT syndrome type 6|KCNE2 long QT syndrome|long QT syndrome 6	http://purl.obolibrary.org/obo/MONDO_0013370	Any long QT syndrome in which the cause of the disease is a mutation in the KCNE2 gene.	http://identifiers.org/omim/613693|MESH:C566333|DOID:0110648|UMLS:C3150953
MONDO:0013371	dilated cardiomyopathy 1U	biolink:Disease	mondo	OMIM:613694|MESH:C566296|DOID:0110455|UMLS:C3160720|ICD10:I42.0		PSEN1 familial isolated dilated cardiomyopathy|CMD1U|dilated cardiomyopathy type 1U|familial isolated dilated cardiomyopathy caused by mutation in PSEN1|cardiomyopathy, dilated, type 1U|cardiomyopathy, dilated, 1U; CMD1U|cardiomyopathy, dilated, 1U	http://purl.obolibrary.org/obo/MONDO_0013371	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN1 gene.	UMLS:C3160720|http://identifiers.org/omim/613694|MESH:C566296|DOID:0110455
ENVO:01000254	environmental system	biolink:OntologyClass	mondo			environment	http://purl.obolibrary.org/obo/ENVO_01000254	A system which has the disposition to environ one or more material entities.	
MONDO:0013374	supernumerary der(22)t(8;22) syndrome	biolink:Disease	mondo	UMLS:C3150966|OMIM:613700		supernumerary der(22)t(8;22) syndrome	http://purl.obolibrary.org/obo/MONDO_0013374		UMLS:C3150966|http://identifiers.org/omim/613700
MONDO:0013375	Klippel-Feil syndrome 3, autosomal dominant	biolink:Disease	mondo	DOID:0080591|UMLS:C3150967|OMIM:613702		GDF3 isolated Klippel-Feil syndrome|isolated Klippel-Feil syndrome caused by mutation in GDF3|KFS3|Klippel-FEIL syndrome 3, autosomal dominant; KFS3|Klippel-Feil syndrome 3, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0013375	Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF3 gene.	UMLS:C3150967|http://identifiers.org/omim/613702|DOID:0080591
MONDO:0013372	long QT syndrome 5	biolink:Disease	mondo	HGNC:6240|MESH:C566766|UMLS:C1867904|GARD:0010433|OMIM:613695|ICD10:I45.8|DOID:0110647	gard_rare	long QT syndrome 2/5, digenic|LQT5|long QT syndrome 5|long QT syndrome 5, acquired, susceptibility to|long QT syndrome 5; LQT5|long QT syndrome caused by mutation in KCNE1|KCNE1 long QT syndrome|long QT syndrome type 5	http://purl.obolibrary.org/obo/MONDO_0013372	Any long QT syndrome in which the cause of the disease is a mutation in the KCNE1 gene.	UMLS:C1867904|DOID:0110647|http://identifiers.org/omim/613695|MESH:C566766
MONDO:0013373	dilated cardiomyopathy 1V	biolink:Disease	mondo	UMLS:C3150958|MESH:C566856|OMIM:613697|DOID:0110427|ICD10:I42.0		cardiomyopathy, dilated, 1V; CMD1V|dilated cardiomyopathy type 1V|cardiomyopathy, dilated, 1V|PSEN2 familial isolated dilated cardiomyopathy|CMD1V|familial isolated dilated cardiomyopathy caused by mutation in PSEN2|cardiomyopathy, dilated, type 1V	http://purl.obolibrary.org/obo/MONDO_0013373	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN2 gene.	UMLS:C3150958|http://identifiers.org/omim/613697|MESH:C566856|DOID:0110427
ENVO:01000248	dense settlement biome	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000248	A dense settlement biome is an anthropogenic terrestrial biome which is primarily used for human habitation, recreation, and industry within built structures with little other land use.	
HGNC:26724	ANKS6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26724		
MONDO:0001399	ureter leiomyoma	biolink:Disease	mondo	DOID:11887|UMLS:C1336875|NCIT:C6161		leiomyoma of ureter|leiomyoma of the ureter|ureteral leiomyoma|ureter leiomyoma	http://purl.obolibrary.org/obo/MONDO_0001399	A benign smooth muscle neoplasm arising from the ureter. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	NCIT:C6161|UMLS:C1336875|DOID:11887
MONDO:0001398	ureter benign neoplasm	biolink:Disease	mondo	NCIT:C3617|ICD9:223.2|DOID:11885|SCTID:92464009|COHD:198103		neoplasm of ureter|benign ureteric neoplasm|benign ureteral neoplasm|benign ureteric neoplasm NOS|benign tumor of ureter|benign tumor of the ureter|ureteral tumor|benign neoplasm of ureter|benign neoplasm of the ureter|benign ureter neoplasm|benign ureter tumor|ureteral benign neoplasm|ureter benign neoplasm|benign ureteral tumor	http://purl.obolibrary.org/obo/MONDO_0001398	Cancer or tumors of the ureter which may cause obstruction leading to hydroureter, hydronephrosis, and pyelonephritis. hematuria is a common symptom.	DOID:11885|SNOMEDCT:92464009|NCIT:C3617
MONDO:0001397	mononeuropathy	biolink:Disease	mondo	MESH:D020422|ICD10:G58.9|UMLS:C0494491|SCTID:128189008|COHD:4134455|DOID:1188			http://purl.obolibrary.org/obo/MONDO_0001397	Disease or trauma involving a single peripheral nerve in isolation, or out of proportion to evidence of diffuse peripheral nerve dysfunction. Mononeuropathy multiplex refers to a condition characterized by multiple isolated nerve injuries. Mononeuropathies may result from a wide variety of causes, including ischemia; traumatic injury; compression; connective tissue diseases; cumulative trauma disorders; and other conditions.	DOID:1188|MESH:D020422|UMLS:C0494491|SNOMEDCT:128189008
ECTO:7000018	exposure to rock	biolink:OntologyClass	mondo			rock exposure	http://purl.obolibrary.org/obo/ECTO_7000018	A exposure event involving the interaction of an exposure receptor to rock.	
NCBITaxon:11018	Togaviridae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_11018		
NCBITaxon:11019	Alphavirus	organism taxon	mondo	GC_ID:1		arboviruses group A|Alphaviridae	http://purl.obolibrary.org/obo/NCBITaxon_11019		
MONDO:0001392	monocular exotropia	biolink:Disease	mondo	COHD:375274|ICD9:378.11|SCTID:5725006|UMLS:C0152206|ICD10:H50.11|DOID:11853			http://purl.obolibrary.org/obo/MONDO_0001392		DOID:11853|UMLS:C0152206|SNOMEDCT:5725006
MONDO:0001391	indeterminate leprosy	biolink:Disease	mondo	DOID:11851|ICD10:A30.0|SCTID:14386001|UMLS:C0021192|ICD9:030.2		indeterminate leprosy [group I]|uncharacteristic leprosy	http://purl.obolibrary.org/obo/MONDO_0001391	A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules.	SNOMEDCT:14386001|UMLS:C0021192|DOID:11851
MONDO:0001390	transient refractive change	biolink:Disease	mondo	DOID:11850|SCTID:81519008|ICD9:367.81|UMLS:C0155000|COHD:380727			http://purl.obolibrary.org/obo/MONDO_0001390		SNOMEDCT:81519008|DOID:11850|UMLS:C0155000
MONDO:0001396	abnormal threshold of rods	biolink:Disease	mondo	DOID:11874|UMLS:C0155019|ICD9:368.63|SCTID:50455002|ICD10:H53.61		abnormal dark adaptation curve	http://purl.obolibrary.org/obo/MONDO_0001396		DOID:11874|SNOMEDCT:50455002|UMLS:C0155019
MONDO:0001395	macular keratitis	biolink:Disease	mondo	DOID:11871|ICD10:H16.11|ICD9:370.22|SCTID:2853006|UMLS:C0155076			http://purl.obolibrary.org/obo/MONDO_0001395		SNOMEDCT:2853006|DOID:11871|UMLS:C0155076
MONDO:0001394	chronic erythremia	biolink:Disease	mondo	DOID:11868|ICD9:207.1			http://purl.obolibrary.org/obo/MONDO_0001394		DOID:11868
ECTO:7000012	exposure to soil	biolink:OntologyClass	mondo			soil exposure	http://purl.obolibrary.org/obo/ECTO_7000012	A exposure event involving the interaction of an exposure receptor to soil.	
MONDO:0001393	peripheral focal chorioretinitis	biolink:Disease	mondo	SCTID:56787009|UMLS:C0339394|ICD9:363.04|DOID:11864			http://purl.obolibrary.org/obo/MONDO_0001393		DOID:11864|UMLS:C0339394|SNOMEDCT:56787009
HP:0010295	Aplasia/Hypoplasia of the tongue	biolink:PhenotypicFeature	mondo	UMLS:C4280384|UMLS:C4023916		Lingual aplasia/hypoplasia	http://purl.obolibrary.org/obo/HP_0010295	Absence or underdevelopment of the tongue.	
MONDO:0013367	long QT syndrome 2	biolink:Disease	mondo	DOID:0110645|NCIT:C137957|GARD:0003285|UMLS:C3150943|MESH:C563614|OMIM:613688|HGNC:6251|ICD10:I45.8	gard_rare	long QT syndrome type 2|long QT syndrome 2; LQT2|long QT syndrome 1/2, digenic|LQT2|long QT syndrome 2/3, digenic|long QT syndrome 2/5, digenic|long QT syndrome 2, acquired, susceptibility to|long QT syndrome 2|long QT syndrome 2/9, digenic	http://purl.obolibrary.org/obo/MONDO_0013367	An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.	DOID:0110645|UMLS:C3150943|MESH:C563614|NCIT:C137957|http://identifiers.org/omim/613688
MONDO:0013368	mammary-digital-nail syndrome	biolink:Disease	mondo	SCTID:718679004|ICD10:Q87.2|UMLS:C3150946|OMIM:613689|Orphanet:238744	ordo_malformation_syndrome	onycho-digito-mammary syndrome|MDN syndrome|MDNS|mammary-digital-nail syndrome; MDNS|mammary-digital-nail syndrome	http://purl.obolibrary.org/obo/MONDO_0013368	Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.	ORPHA:238744|UMLS:C3150946|http://identifiers.org/omim/613689|SNOMEDCT:718679004
MONDO:0013365	autosomal recessive nonsyndromic deafness 83	biolink:Disease	mondo	ICD10:H90.3|OMIM:613685|DOID:0110528		deafness, autosomal recessive 83; DFNB83|autosomal recessive deafness 83|DFNB83|autosomal recessive nonsyndromic deafness type 83|deafness, autosomal recessive 83	http://purl.obolibrary.org/obo/MONDO_0013365	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 9p23-p21.2.	DOID:0110528|http://identifiers.org/omim/613685
MONDO:0013366	spondylocostal dysostosis 4, autosomal recessive	biolink:Disease	mondo	GARD:0004976|OMIM:613686|UMLS:C3150942		spondylocostal dysostosis 4|SCDO4|spondylocostal dysostosis 4, autosomal recessive|spondylocostal dysostosis 4, autosomal recessive; SCDO4|HES7 autosomal recessive spondylocostal dysostosis|autosomal recessive spondylocostal dysostosis caused by mutation in HES7|Hes7 autosomal recessive spondylocostal dysostosis|autosomal recessive spondylocostal dysostosis caused by mutation in Hes7	http://purl.obolibrary.org/obo/MONDO_0013366	Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the HES7 gene.	UMLS:C3150942|http://identifiers.org/omim/613686
ECTO:7000020	exposure to sand	biolink:OntologyClass	mondo			sand exposure	http://purl.obolibrary.org/obo/ECTO_7000020	A exposure event involving the interaction of an exposure receptor to sand.	
MONDO:0013369	hypertrophic cardiomyopathy 7	biolink:Disease	mondo	DOID:0110313|OMIM:613690|UMLS:C1860752		cardiomyopathy, familial hypertrophic, 7|TNNI3 hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, type 7|hypertrophic cardiomyopathy caused by mutation in TNNI3|cardiomyopathy, familial hypertrophic 7|CMH7|cardiomyopathy, familial hypertrophic, 7; CMH7|hypertrophic cardiomyopathy type 7	http://purl.obolibrary.org/obo/MONDO_0013369	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene.	UMLS:C1860752|DOID:0110313|http://identifiers.org/omim/613690
MONDO:0013360	brachyolmia, Maroteaux type	biolink:Disease	mondo	Orphanet:93302|SCTID:389165004|OMIM:613678|ICD10:Q76.3	ordo_malformation_syndrome	brachyolmia, Maroteaux type|brachyolmia type 2; BCYM2|BCYM2|brachyolmia type 2	http://purl.obolibrary.org/obo/MONDO_0013360	Autosomal recessive brachyolmia, Maroteaux type is a relatively mild form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias.	ORPHA:93302|SNOMEDCT:389165004|http://identifiers.org/omim/613678
ENVO:01000242	desert scrubland	biolink:OntologyClass	mondo			desert scrub	http://purl.obolibrary.org/obo/ENVO_01000242	A scrubland which is located in a desert.	
MONDO:0013363	chromosome 2q31.1 duplication syndrome	biolink:Disease	mondo	UMLS:C3150940|DOID:0060458|OMIM:613681		chromosome 2q31.1 duplication syndrome|mesomelic dysplasia, 2Q31.1 Duplication-related	http://purl.obolibrary.org/obo/MONDO_0013363		UMLS:C3150940|DOID:0060458|http://identifiers.org/omim/613681
MONDO:0013364	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	biolink:Disease	mondo	NCIT:C153291|ICD10:Q87.2|UMLS:C3150941|Orphanet:353284|OMIM:613684	ordo_clinical_subtype	EP300 Rubinstein-Taybi syndrome|Rubinstein-Taybi syndrome 2|Rubinstein-Taybi syndrome type 2|Rubinstein-Taybi syndrome caused by mutation in EP300|RSTS2|Rubinstein-Taybi syndrome 2; RSTS2	http://purl.obolibrary.org/obo/MONDO_0013364	Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene.	UMLS:C3150941|NCIT:C153291|ORPHA:353284|http://identifiers.org/omim/613684
MONDO:0013361	congenital prothrombin deficiency	biolink:Disease	mondo	UMLS:C0020640|SCTID:73975000|OMIM:613679|ICD9:286.3|Orphanet:325|DOID:2235|NCIT:C131737|GARD:0002235|MESH:D007020|ICD10:D68.2	ordo_disease|gard_rare	factor 2 deficiency|Dysprothrombinemia|hereditary prothrombin deficiency|hypoprothrombinemia|prothrombin deficiency|factor II deficiency|prothrombin deficiency, congenital|congenital factor II deficiency	http://purl.obolibrary.org/obo/MONDO_0013361	Congenital factor II deficiency is an inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms.	DOID:2235|SNOMEDCT:73975000|NCIT:C131737|UMLS:C0020640|http://identifiers.org/omim/613679|MESH:D007020|ORPHA:325
MONDO:0013362	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	biolink:Disease	mondo	OMIM:613680|UMLS:C3150939|Orphanet:363444|ICD10:Q87.0	ordo_malformation_syndrome	BEAULIEU-BOYCOTT-Innes syndrome; BBIS|Beaulieu-Boycott-Innes syndrome|BBIS|BEAULIEU-BOYCOTT-Innes syndrome|microcephaly, intellectual disability, and distinctive facies, with Cardiac and genitourinary malformations|microcephaly, mental retardation, and distinctive facies, with Cardiac and genitourinary malformations	http://purl.obolibrary.org/obo/MONDO_0013362		UMLS:C3150939|http://identifiers.org/omim/613680|ORPHA:363444
NCBITaxon:1301	Streptococcus	organism taxon	mondo	PMID:1720654|PMID:8995803|GC_ID:11|PMID:10555340|PMID:7537076|PMID:19620365|PMID:14657115|PMID:19880633			http://purl.obolibrary.org/obo/NCBITaxon_1301		
MONDO:0003821	ovarian biphasic or triphasic teratoma	biolink:Disease	mondo	UMLS:C1518691|DOID:6232|NCIT:C39992		ovarian biphasic or triphasic teratoma	http://purl.obolibrary.org/obo/MONDO_0003821	A germ cell tumor that arises from the ovary and is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm.	UMLS:C1518691|NCIT:C39992|DOID:6232
CHEBI:25699	organic ion	biolink:ChemicalSubstance	mondo			organic ions	http://purl.obolibrary.org/obo/CHEBI_25699		
MONDO:0003822	non-invasive bladder papillary urothelial neoplasm	biolink:Disease	mondo	UMLS:C1518358|NCIT:C39831|DOID:6239		papillary urothelial neoplasm of low malignant potential|non-invasive bladder papillary urothelial neoplasm|bladder papillary neoplasm of low malignant potential|bladder PUNLMP	http://purl.obolibrary.org/obo/MONDO_0003822	A papillary neoplasm of the urinary bladder in which the transitional cells form papillae. The papillary structures exhibit minimal architectural distortion and minimal atypia. Mitoses are infrequent. Patients are at an increased risk of developing new papillary lesions. Occasionally, the new lesions are urothelial carcinomas.	UMLS:C1518358|NCIT:C39831|DOID:6239
CHEBI:25698	ether	biolink:ChemicalSubstance	mondo			ethers|ether|ethers	http://purl.obolibrary.org/obo/CHEBI_25698	An organooxygen compound with formula ROR, where R is not hydrogen.	
CHEBI:25697	organic cation	biolink:ChemicalSubstance	mondo			organic cations	http://purl.obolibrary.org/obo/CHEBI_25697	Any organic ion with a net positive charge.	
MONDO:0003823	obsolete transient hypogammaglobulinemia of infancy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003823		
MONDO:0003824	hereditary kidney oncocytoma	biolink:Disease	mondo	DOID:6244|UMLS:C0879606|NCIT:C8960		familial renal oncocytoma|hereditary kidney oncocytoma|hereditary renal oncocytoma	http://purl.obolibrary.org/obo/MONDO_0003824	An inherited condition characterized by the development of kidney oncocytomas which are often bilateral and multifocal. This condition may be connected to Birt-Hogg-Dube syndrome.	UMLS:C0879606|NCIT:C8960|DOID:6244
CHEBI:25696	organic anion	biolink:ChemicalSubstance	mondo			organic anions	http://purl.obolibrary.org/obo/CHEBI_25696	Any organic ion with a net negative charge.	
UBERON:0000457	cavernous artery	biolink:AnatomicalEntity	mondo			cavernous branch of cavernous part of internal carotid artery|ramus sinus cavernosi (pars cavernosa) (arteria carotis interna)	http://purl.obolibrary.org/obo/UBERON_0000457	Any of several small branches of the internal carotid artery that supply the trigeminal ganglion and the walls of the cavernous and petrosal sinuses.	
UBERON:0000458	endocervix	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0000458	The region of the opening of the uterine cervix into the uterine cavity.	
UBERON:0000459	uterine wall	biolink:AnatomicalEntity	mondo			anatomical wall of uterus|uterus anatomical wall|uterus wall|wall of uterus	http://purl.obolibrary.org/obo/UBERON_0000459	An anatomical wall that is part of a uterus [Automatically generated definition].	
MONDO:0003820	mature ovarian teratoma	biolink:Disease	mondo	DOID:6231|NCIT:C8112|ONCOTREE:OMT|UMLS:C1334637		mature ovarian teratoma|mature teratoma of ovary|mature teratoma|ovary mature teratoma|mature teratoma of the ovary	http://purl.obolibrary.org/obo/MONDO_0003820	An ovarian teratoma which may be cystic, composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues.	UMLS:C1334637|DOID:6231|NCIT:C8112
NCBITaxon:1300	Streptococcaceae	organism taxon	mondo	GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_1300		
MONDO:0015807	myopic macular degeneration	biolink:Disease	mondo	UMLS:C0730271|SCTID:312898002|Orphanet:178493|EFO:0009201|ICD10:H35.3	ordo_disease	myopic maculopathy	http://purl.obolibrary.org/obo/MONDO_0015807		UMLS:C0730271|SNOMEDCT:312898002|ORPHA:178493
MONDO:0015806	adult intestinal botulism	biolink:Disease	mondo	NCIT:C128344|ICD10:A05.1|Orphanet:178487|UMLS:C4289991	ordo_clinical_subtype	intestinal botulism of adults|adult intestinal colonization botulism|adult intestinal toxemia botulism|adult intestinal toxin-mediated botulism|infant-like botulism	http://purl.obolibrary.org/obo/MONDO_0015806	A very rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia.	NCIT:C128344|UMLS:C4289991|ORPHA:178487
MONDO:0015805	intestinal botulism	biolink:Disease	mondo	UMLS:C1443901|SCTID:409563004|ICD10:A05.1|DOID:0050141|Orphanet:178481	ordo_clinical_subtype	intestinal colonization botulism|intestinal toxin-mediated botulism|intestinal toxemia botulism	http://purl.obolibrary.org/obo/MONDO_0015805	A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia. The disease affects infants (infant botulism) and very rarely adults (adult intestinal botulism).	UMLS:C1443901|ORPHA:178481|DOID:0050141|SNOMEDCT:409563004
MONDO:0015804	infant botulism	biolink:Disease	mondo	UMLS:C0238027|NCIT:C128343|DOID:0050354|ICD10:A05.1|SCTID:414488002|ICD10:A48.51|Orphanet:178478	ordo_clinical_subtype	infant intestinal toxin-mediated botulism|infantile onset botulism|botulism of infancy|infantile botulism|infant intestinal toxemia botulism|infant intestinal botulism	http://purl.obolibrary.org/obo/MONDO_0015804	A botulism that occurs between 28 days to one year of life..	SNOMEDCT:414488002|UMLS:C0238027|ORPHA:178478|DOID:0050354|NCIT:C128343
FOODON:03420293	fruit core (anatomical part)	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03420293	The hard, central part of an apple, pear, etc., that contains the seeds (Source: Webster's)	
MONDO:0015809	localized pagetoid reticulosis	biolink:Disease	mondo	NCIT:C35794|ICD10:C84.0|SCTID:404120006|ICD9:202.70|MESH:D056267|Orphanet:178517|UMLS:C1276140	ordo_disease	pagetoid reticulosis|localized reticulosis|pagetoid reticulosis, Woringer-Kolopp type|localised reticulosis	http://purl.obolibrary.org/obo/MONDO_0015809	A variant of mycosis fungoides, characterized by an exclusively intraepidermal atypical (cerebriform) lymphocytic infiltrate. Patients present with a localized psoriasiform or hyperkeratotic patch or plaque, usually in the extremities. Extracutaneous dissemination of the disease has never been reported.	NCIT:C35794|UMLS:C1276140|SNOMEDCT:404120006|MESH:D056267|ORPHA:178517
CHEBI:25693	organic heteromonocyclic compound	biolink:ChemicalSubstance	mondo			organic heteromonocyclic compounds	http://purl.obolibrary.org/obo/CHEBI_25693		
MONDO:0015808	folliculotropic mycosis fungoides	biolink:Disease	mondo	UMLS:C1627767|ICD10:C84.0|SCTID:404109006|NCIT:C35685|Orphanet:178512|ICD9:701.8	ordo_disease	alopecia mucinosa (t cell lymphoma)|follicular mycosis fungoides|follicular mucinosis type mycosis fungoides|mycosis fungoides-associated follicular mucinosis|folliculotropic mycosis fungoides	http://purl.obolibrary.org/obo/MONDO_0015808	Folliculotropic mycosis fungoides is a rare variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by the presence of folliculotropic infiltrates in patch-plaque lesions usually involving the head and neck area.	UMLS:C1627767|SNOMEDCT:404109006|ORPHA:178512|NCIT:C35685
MONDO:0015810	primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma	biolink:Disease	mondo	ICD10:C84.4|Orphanet:178522	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015810		ORPHA:178522
HGNC:9988	RFXAP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9988		
HGNC:7325	MSH2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7325		
UBERON:0012437	epithelial-mesenchymal boundary	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0012437	A anatomical line that adjacent_to a epithelium and adjacent_to a mesenchyme.	
HGNC:9986	RFX5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9986		
CL:1000331	serous cell of epithelium of bronchus	biolink:Cell	mondo	FMA:263080			http://purl.obolibrary.org/obo/CL_1000331	A serous secreting cell that is part of the epithelium of bronchus.	
HGNC:9987	RFXANK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9987		
HGNC:7326	MSH3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7326		
MONDO:0015814	primary cutaneous follicle center lymphoma	biolink:Disease	mondo	Orphanet:178540|ICDO:9597/3|SCTID:404143002|NCIT:C7217|ICD10:C82.6|ONCOTREE:PCFCL|UMLS:C1333171	ordo_disease	cutaneous follicle centre lymphoma|PCFCL|Crosti's disease|cutaneous follicle center lymphoma|Reticulohistiocytoma of the dorsum	http://purl.obolibrary.org/obo/MONDO_0015814	A primary lymphoma of the skin composed of various numbers of small and large irregular neoplastic follicle center cells. Its morphologic pattern can be nodular, diffuse, or nodular and diffuse. It presents with solitary or grouped plaques and tumors, and it usually involves the scalp, forehead, or trunk. It rarely involves the legs. This type of cutaneous lymphoma tends to remain localized to the skin.	SNOMEDCT:404143002|UMLS:C1333171|ORPHA:178540|NCIT:C7217|UMLS:C1631066
FOODON:03420294	fruit peel (anatomical part)	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03420294	The rind or skin of fruit	
HGNC:7329	MSH6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7329		
MONDO:0015813	primary cutaneous marginal zone B-cell lymphoma	biolink:Disease	mondo	ICD10:C83.0|NCIT:C7230|UMLS:C1275321|Orphanet:178536|SCTID:404140004	ordo_disease	cutaneous Immunocytoma|C-MALT|salt lymphoma|Primary cutaneous marginal zone B cell lymphoma of mucosa-associated lymphoid tissue|marginal zone B cell lymphoma of skin|marginal zone B cell lymphoma of the skin|skin-associated lymphoid tissue lymphoma|Primary cutaneous marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue|PCMZL|Primary cutaneous marginal zone lymphoma of mucosa-associated lymphoid tissue	http://purl.obolibrary.org/obo/MONDO_0015813	Extranodal lymphoma of lymphoid tissue associated with mucosa that is in contact with exogenous antigens. Many of the sites of these lymphomas, such as the stomach, salivary gland, and thyroid, are normally devoid of lymphoid tissue. They acquire mucosa-associated lymphoid tissue (malt) type as a result of an immunologically mediated disorder.	MESH:D018442|UMLS:C1275321|SNOMEDCT:404140004|ORPHA:178536|NCIT:C7230
FOODON:03420295	fruit seed (anatomical part)	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03420295	The part of a flowering plant that typically contains the embryo with its protective coat and stored food and that can develop into a new plant under the proper conditions; fertilised and mature ovule (Source: Webster's).  Seeds and fruits commonly called seeds include: grain, kernel, berry, ear, corn, nut. (Source: Webster's Thesaurus).	
MONDO:0015812	primary cutaneous gamma/delta-positive T-cell lymphoma	biolink:Disease	mondo	ICD10:C84.4|Orphanet:178533	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015812	Primary cutaneous gamma/delta-positive T-cell lymphoma is a rare, usually aggressive, subtype of cutaneous T-cell lymphoma characterized by infiltration of the epidermis, dermis or subcutaneous tissue by a clonal population of mature, gamma/delta positive cytotoxic T-cells. Typically it presents with ulcerating plaques, tumors, or subcutaneous nodules on the skin of the extremities, however, frequent involvement of mucosal and extranodal sites (such as the nasal cavity, gastrointestinal tract or lungs) is also observed. Cases associated with panniculitis may present with hemophagocytic syndrome (abrupt onset of fever, rash, cytopenia, hepatosplenomegaly and neurological compromise). Infiltration of lymph nodes, spleen and bone marrow is uncommon and resistance to multilineage chemotherapy is reported.	ORPHA:178533
MONDO:0015811	primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma	biolink:Disease	mondo	Orphanet:178528|SCTID:765136002|ICD10:C84.4	ordo_disease	primary cutaneous epidermotropic cytotoxic CD8+ T-cell lymphoma|Berti lymphoma	http://purl.obolibrary.org/obo/MONDO_0015811	Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma is a rare form of primary cutaneous T-cell lymphoma characterized by rapidly progressing, localized or disseminated nodules, tumors or eczematous skin lesions. It has a particularly aggressive clinical course with a high tendency to spread, in advanced stages, to extracutaneous locations (the central nervous system, lung, testes). Lymph nodes are often spared.	SNOMEDCT:765136002|ORPHA:178528
MONDO:0003818	childhood mature teratoma of the ovary	biolink:Disease	mondo	DOID:6229|NCIT:C6548|UMLS:C1332991		childhood mature ovarian teratoma|childhood mature teratoma of ovary|pediatric ovarian mature teratoma|pediatric mature teratoma of the ovary|pediatric mature teratoma of ovary|pediatric mature ovarian teratoma|pediatric mature ovarian teratoma|mature ovarian teratoma of childhood|childhood ovarian mature teratoma	http://purl.obolibrary.org/obo/MONDO_0003818	A mature teratoma that arises from the ovary and occurs in children.	UMLS:C1332991|NCIT:C6548|DOID:6229
UBERON:0000464	anatomical space	biolink:AnatomicalEntity	mondo			anatomical spaces|lumen space|lumen|space	http://purl.obolibrary.org/obo/UBERON_0000464	Non-material anatomical entity of three dimensions, that is generated by morphogenetic or other physiologic processes; is surrounded by one or more anatomical structures; contains one or more organism substances or anatomical structures.	
MONDO:0003819	childhood teratoma of the ovary	biolink:Disease	mondo	NCIT:C6554|DOID:6230|UMLS:C1332992		pediatric ovarian teratoma|childhood teratoma of the ovary|childhood teratoma of ovary|ovarian teratoma of childhood|pediatric teratoma of ovary|pediatric ovarian teratoma|pediatric teratoma of the ovary|childhood ovarian teratoma	http://purl.obolibrary.org/obo/MONDO_0003819	A mature or immature teratoma that arises from the ovary and occurs in children.	UMLS:C1332992|NCIT:C6554|DOID:6230
UBERON:0000465	material anatomical entity	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0000465	Anatomical entity that has mass.	
UBERON:0000466	immaterial anatomical entity	biolink:AnatomicalEntity	mondo			immaterial physical anatomical entity	http://purl.obolibrary.org/obo/UBERON_0000466	Anatomical entity that has no mass.	
UBERON:0000467	anatomical system	biolink:AnatomicalEntity	mondo			connected anatomical system|system|anatomical systems|organ system|body system	http://purl.obolibrary.org/obo/UBERON_0000467	Multicellular, connected anatomical structure that has multiple organs as parts and whose parts work together to achieve some shared function.	
UBERON:0000460	major vestibular gland	biolink:AnatomicalEntity	mondo			greater vestibular gland|Tiedemann's gland|greater vestibular glands of Bartholin|Bartholin gland|Duverney's gland|vulvovaginal gland|glandula vestibularis major|Bartholin's gland	http://purl.obolibrary.org/obo/UBERON_0000460	the paired glands located slightly posterior and to the left and right of the opening of the vagina in the superficial perineal pouch in females; they secrete mucus to lubricate the vagina and are homologous to bulbourethral (Cowper's) glands in males	
MONDO:0003814	obsolete gastric diffuse adenocarcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003814		
UBERON:0000461	minor vestibular gland	biolink:AnatomicalEntity	mondo			Guérin's gland|Skene gland|paraurethral gland|glandula vestibular minor|Schueller's gland|urethral gland of female urethra|lesser vestibular gland|Skene's gland|periurethral gland|Guerin's gland|glandula vestibulares minor	http://purl.obolibrary.org/obo/UBERON_0000461	Small mucous glands opening upon the vestibular mucous membrane between the urethral and the vaginal orifice.	
MONDO:0003815	obsolete Cronkhite-Canada syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003815		
MONDO:0003816	articular cartilage disease	biolink:Disease	mondo	DOID:6227|UMLS:C0158073|ICD9:718.02|ICD9:718.00|SCTID:53417006|ICD9:718.0		articular cartilage disorder involving multiple sites|articular cartilage disorder|articular cartilage disorder of shoulder region|articular cartilage disease|articular cartilage of joint disease|articular cartilage disorder involving forearm|articular cartilage disorder involving upper arm|articular cartilage disorder of forearm|articular cartilage disorder of hand|articular cartilage disorder of upper arm|articular cartilage of joint disease or disorder|disease of articular cartilage of joint|articular cartilage disorder involving hand|articular cartilage of joint disease|disorder of articular cartilage of joint|articular cartilage disorder of multiple sites|articular cartilage disorder involving ankle and foot|articular cartilage of joint disease|articular cartilage disorder of ankle and/or foot|disease of articular cartilage of joint|articular cartilage disorder of the pelvic region and thigh|disorder of articular cartilage|articular cartilage disorder involving pelvic region and thigh|disorder of articular cartilage of joint|articular cartilage disorder involving shoulder region|disease or disorder of articular cartilage of joint	http://purl.obolibrary.org/obo/MONDO_0003816	A disease involving the articular cartilage of joint.	SNOMEDCT:53417006|DOID:6227|UMLS:C0158073
HGNC:7323	SEPTIN9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7323		
NCBITaxon:35278	unclassified ssRNA positive-strand viruses	organism taxon	mondo	GC_ID:1		ssRNA positive-strand viruses|ssRNA positive-strand viruses, no DNA stage|unclassified ssRNA positive-strand viruses, no DNA stage	http://purl.obolibrary.org/obo/NCBITaxon_35278		
MONDO:0003817	obsolete peritoneal serous papillary adenocarcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003817		
UBERON:0000463	organism substance	biolink:AnatomicalEntity	mondo			body substance|organism substance|portion of body substance|portion of organism substance|body fluid or substance	http://purl.obolibrary.org/obo/UBERON_0000463	Material anatomical entity in a gaseous, liquid, semisolid or solid state; produced by anatomical structures or derived from inhaled and ingested substances that have been modified by anatomical structures as they pass through the body.	
MONDO:0003832	complement deficiency	biolink:Disease	mondo	SCTID:24743004|Orphanet:459345|NCIT:C4691|UMLS:C0272242|DOID:626|ICD10:D80-D89|ICD10:D84.1|ICD9:279.8	ordo_group_of_disorders	disorder of complement activation|immunodeficiency due to a complement cascade component deficiency|disorder of complement activation|complement deficiency|complement activation disease|complement deficiency disease	http://purl.obolibrary.org/obo/MONDO_0003832	A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited.	SNOMEDCT:24743004|NCIT:C4691|UMLS:C0272242|DOID:626|ORPHA:459345
NCBITaxon:1313	Streptococcus pneumoniae	organism taxon	mondo	GC_ID:11		Diplococcus pneumoniae|Micrococcus pneumoniae	http://purl.obolibrary.org/obo/NCBITaxon_1313		
MONDO:0003833	obsolete severe combined immunodeficiency (disease)	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003833		
MONDO:0003834	gastric cardia carcinoma	biolink:Disease	mondo	NCIT:C6794|DOID:6270|EFO:1001252|UMLS:C1333763		carcinoma of the gastric cardia|cardia of stomach carcinoma|gastric cardia cancer|carcinoma of cardia of stomach|cancer of gastric cardia|carcinoma of the cardia of the stomach|gastric cardia (stomach) cancer|carcinoma of gastric cardia|cancer of the gastric cardia	http://purl.obolibrary.org/obo/MONDO_0003834	A carcinoma that arises from epithelial cells of the cardia of stomach.	NCIT:C6794|DOID:6270|UMLS:C1333763
NCBITaxon:1314	Streptococcus pyogenes	organism taxon	mondo	GC_ID:11		Streptococcus erysipelatos|Streptococcus scarlatinae|Micrococcus scarlatinae|Streptococcus hemolyticus	http://purl.obolibrary.org/obo/NCBITaxon_1314		
HGNC:26821	CCDC141	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26821		
MONDO:0003835	gastric cardia adenocarcinoma	biolink:Disease	mondo	UMLS:C1333762|DOID:6271|NCIT:C5247		adenocarcinoma of the cardia of the stomach|cardia of stomach adenocarcinoma|adenocarcinoma of the gastric cardia|adenocarcinoma of gastric cardia|adenocarcinoma of cardia of stomach	http://purl.obolibrary.org/obo/MONDO_0003835	A carcinoma that arises from glandular epithelial cells of the cardia of stomach.	NCIT:C5247|DOID:6271|UMLS:C1333762
CHEBI:74634	cardenolides	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_74634	Any steroid lactone that is a  C23 steroid with a five-membered lactone ring at C-17 and its substituted derivatives. They form the aglycone constituents of cardiac glycosides.	
MONDO:0003830	type 1 papillary adenoma of the kidney	biolink:Disease	mondo	UMLS:C1519706|NCIT:C39809|DOID:6258		type 1 renal papillary adenoma|type 1 papillary adenoma of the kidney	http://purl.obolibrary.org/obo/MONDO_0003830		NCIT:C39809|DOID:6258|UMLS:C1519706
MONDO:0003831	type 2 papillary adenoma of the kidney	biolink:Disease	mondo	NCIT:C39810|UMLS:C1519710|DOID:6259		type 2 renal papillary adenoma|type 2 papillary adenoma of the kidney	http://purl.obolibrary.org/obo/MONDO_0003831		NCIT:C39810|DOID:6259|UMLS:C1519710
HP:0032245	Abnormal metabolism	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0032245	An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products.	
UBERON:0012430	tunica fibrosa of eyeball	biolink:AnatomicalEntity	mondo			corneosclera|fibrous tunic|fibrous layer of eyeball|tunica fibrosa	http://purl.obolibrary.org/obo/UBERON_0012430	The sclera and cornea form the fibrous tunic of the bulb of the eye; the sclera is opaque, and constitutes the posterior five-sixths of the tunic; the cornea is transparent, and forms the anterior sixth.	
UBERON:0036422	wall of pulmonary artery	biolink:AnatomicalEntity	mondo			pulmonary arterial wall	http://purl.obolibrary.org/obo/UBERON_0036422		
CL:1000322	pancreatic goblet cell	biolink:Cell	mondo	FMA:263058		goblet cell of epithelium of pancreatic duct	http://purl.obolibrary.org/obo/CL_1000322	A goblet cell that is part of the epithelium of pancreatic duct.	
UBERON:0012425	striated border microvillus layer	biolink:AnatomicalEntity	mondo			striated border	http://purl.obolibrary.org/obo/UBERON_0012425	A microvillus layer that is striated and found in the intestine.	
MONDO:0015803	wound botulism	biolink:Disease	mondo	Orphanet:178475|NCIT:C128342|DOID:0050353|UMLS:C1306794|ICD9:040.42|ICD10:A05.1|SCTID:398530003|ICD10:A48.52	ordo_etiological_subtype	skin infectious botulism|skin toxin-mediated botulism|cutaneous infectious botulism|cutaneous toxin-mediated botulism|inoculation botulism	http://purl.obolibrary.org/obo/MONDO_0015803	Botulism that is caused by toxin that is produced in a wound contaminated with Clostridium botulinum.	SNOMEDCT:398530003|UMLS:C1306794|ORPHA:178475|DOID:0050353|NCIT:C128342
MONDO:0015802	autosomal dominant non-syndromic intellectual disability	biolink:Disease	mondo	Orphanet:178469|DOID:0060307|GARD:0012107|UMLS:CN200399	gard_rare	autosomal dominant mental retardation|non-syndromic intellectual disability, autosomal dominant|autosomal dominant non-syndromic mental retardation|autosomal dominant non-syndromic intellectual disability	http://purl.obolibrary.org/obo/MONDO_0015802	Autosomal dominant form of non-syndromic intellectual disability.	DOID:0060307|ORPHA:178469|UMLS:CN200399
MONDO:0015801	hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation	biolink:Disease	mondo	UMLS:CN200394|Orphanet:178396	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015801		ORPHA:178396|UMLS:CN200394
UBERON:0012429	hematopoietic tissue	biolink:AnatomicalEntity	mondo			hematopoietic tissue|textus haemopoieticus|bone marrow tissue|hemopoietic tissue|haemopoietic tissue	http://purl.obolibrary.org/obo/UBERON_0012429	Blood-forming tissue, consisting of reticular fibers and cells.	
MONDO:0015800	osteosclerosis-developmental delay-craniosynostosis syndrome	biolink:Disease	mondo	ICD10:Q75.8|UMLS:CN200391|SCTID:722117000|Orphanet:178377	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0015800	This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.	SNOMEDCT:722117000|ORPHA:178377|UMLS:CN200391
MONDO:0003829	chromophil adenoma of the kidney	biolink:Disease	mondo	DOID:6257|UMLS:C1518879|NCIT:C3687		papillary adenoma of the kidney|renal papillary adenoma|chromophil adenoma of the kidney	http://purl.obolibrary.org/obo/MONDO_0003829	A controversial term, used for renal papillary lesions which measure 1cm or less in diameter and contain small, regular nuclei.	UMLS:C1518879|NCIT:C3687|DOID:6257
UBERON:0000454	cerebral subcortex	biolink:AnatomicalEntity	mondo			cerebral medulla|subcortex	http://purl.obolibrary.org/obo/UBERON_0000454	The layer located below the cerebral cortex that includes the forebrain, midbrain and hindbrain.	
UBERON:0000456	secretion of exocrine gland	biolink:AnatomicalEntity	mondo			bodily secretion|exocrine gland fluid or secretion|secreted substance|external secretion|secretion|exocrine gland fluid|exocrine gland secretion|exocrine gland fluid/secretion	http://purl.obolibrary.org/obo/UBERON_0000456	A portion of organism substance that is produced by exocrine glands.	
HGNC:9990	RGR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9990		
MONDO:0003825	kidney oncocytoma	biolink:Disease	mondo	SCTID:254922006|ONCOTREE:ROCY|DOID:6245|MESH:C537750|NCIT:C4526|GARD:0008477|UMLS:C0346255|EFO:1000315	gard_rare	renal oncocytoma|ROCY|oncocytoma kidney|renal epithelial oncocytic neoplasm|oncocytoma of kidney|oncocytoma of the kidney|kidney oncocytoma|oncocytoma renal|kidney oncocytic neoplasm|renal epithelial oncocytic tumor	http://purl.obolibrary.org/obo/MONDO_0003825	A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions.	SNOMEDCT:254922006|NCIT:C4526|UMLS:C0346255|DOID:6245|MESH:C537750
MONDO:0003826	mediastinum seminoma	biolink:Disease	mondo	NCIT:C6812|UMLS:C1334680|DOID:6249		seminoma of the mediastinum|seminoma of mediastinum|mediastinum seminoma|mediastinal seminoma	http://purl.obolibrary.org/obo/MONDO_0003826	An extragonadal malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of uniform cells with clear or eosinophilic cytoplasm, round nucleus with one or more nucleoli, and distinct cellular borders. It usually arises from the anterior mediastinum. It may present with respiratory distress, chest pain, or superior vena cava syndrome or it may be asymptomatic, with the tumor detected on routine chest x-ray. The prognosis of mediastinal pure seminomas is favorable compared to the mediastinal non-seminomatous malignant germ cell tumors.	NCIT:C6812|UMLS:C1334680|DOID:6249
MONDO:0003827	transient hypogammaglobulinemia	biolink:Disease	mondo	UMLS:C0859960|NCIT:C27319|DOID:625			http://purl.obolibrary.org/obo/MONDO_0003827	A broad classification for humoral immunodeficiencies. These disorders may be caused by inadequate activation of progenitor B cells, defective class-switching or the effects of medications. Despite the potential for increased susceptibility to infection, these disorders are self-limited with eventual normalization of serum antibody levels.	NCIT:C27319|UMLS:C0859960|DOID:625
MONDO:0003828	growth hormone-producing pituitary gland carcinoma	biolink:Disease	mondo	UMLS:C1334587|DOID:6256|NCIT:C5963		malignant somatotropinoma of pituitary|malignant pituitary somatotropinoma|malignant Growth hormone secreting pituitary neoplasm|malignant Growth hormone producing tumor of the pituitary gland|malignant Growth hormone secreting neoplasm of the pituitary gland|malignant Growth hormone secreting pituitary gland neoplasm|malignant Growth hormone producing tumor of pituitary gland|malignant Growth hormone secreting neoplasm of pituitary gland|malignant Growth hormone producing tumor of the pituitary|malignant Growth hormone secreting neoplasm of the pituitary|malignant Growth hormone secreting pituitary gland tumor|malignant Growth hormone producing tumor of pituitary|malignant Growth hormone secreting neoplasm of pituitary|malignant Growth hormone secreting tumor of the pituitary gland|malignant Growth hormone secreting pituitary tumor|malignant Growth hormone producing neoplasm of the pituitary gland|Growth hormone-producing pituitary gland carcinoma|malignant Growth hormone secreting tumor of pituitary gland|malignant Growth hormone producing neoplasm of pituitary gland|malignant pituitary Somatotrophinoma|malignant Growth hormone secreting tumor of the pituitary|malignant Growth hormone producing neoplasm of the pituitary|malignant Growth hormone producing pituitary gland tumor|malignant somatotropinoma|malignant Growth hormone secreting tumor of pituitary|malignant Somatotrophinoma of the pituitary gland|malignant pituitary gland Somatotrophinoma|Growth hormone producing pituitary gland carcinoma|malignant Growth hormone producing neoplasm of pituitary|malignant Growth hormone producing pituitary tumor|malignant Somatotrophinoma of pituitary gland|malignant Growth hormone producing pituitary neoplasm|malignant somatotropinoma of the pituitary gland|malignant somatotropinoma of pituitary gland|malignant Growth hormone producing pituitary gland neoplasm|malignant Somatotrophinoma of pituitary|malignant Growth hormone producing tumor|malignant somatotropinoma of the pituitary|malignant pituitary gland somatotropinoma	http://purl.obolibrary.org/obo/MONDO_0003828	A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces growth hormone. It may be associated with acromegaly.	NCIT:C5963|UMLS:C1334587|DOID:6256
NCBITaxon:35268		organism taxon	mondo				http://purl.obolibrary.org/obo/NCBITaxon_35268		
UBERON:0000439	arachnoid trabecula	biolink:AnatomicalEntity	mondo			trabecula arachnoideum|arachnoid trabeculae	http://purl.obolibrary.org/obo/UBERON_0000439	The arachnoid trabeculae are delicate strands of connective tissue that loosely connect the two innermost layers of the meninges -- the arachnoid mater and the pia mater. They are found within the subarachnoid space where cerebrospinal fluid is also found. Embryologically, the trabeculae are the remnants of the common precursor that forms both the arachnoid and pial layers of the meninges.	
CHEBI:23014	carbon oxide	biolink:ChemicalSubstance	mondo			oxides of carbon|carbon oxides	http://purl.obolibrary.org/obo/CHEBI_23014		
MONDO:0003800	conventional malignant hemangiopericytoma	biolink:Disease	mondo	NCIT:C9425|DOID:6197|UMLS:C1333158		conventional malignant hemangiopericytoma	http://purl.obolibrary.org/obo/MONDO_0003800	A malignant hemangiopericytoma characterized by the presence of necrotic changes and in some cases high mitotic activity.	UMLS:C1333158|DOID:6197|NCIT:C9425
ENVO:00002982	clay	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_00002982	A group of hydrous aluminium phyllosilicate (phyllosilicates being a subgroup of silicate minerals) minerals (see clay minerals), that are typically less than 2 micrometres in diameter. Clay consists of a variety of phyllosilicate minerals rich in silicon and aluminium oxides and hydroxides which include variable amounts of structural water.	
MONDO:0003801	corneal intraepithelial neoplasm	biolink:Disease	mondo	SCTID:420835009|DOID:6198|NCIT:C6093|UMLS:C1333159		cornea intraepithelial neoplasia|intraepithelial neoplasia of cornea|intraepithelial neoplasia of the cornea|cornea squamous cell intraepithelial neoplasia|corneal intraepithelial neoplasia	http://purl.obolibrary.org/obo/MONDO_0003801	A squamous cell intraepithelial neoplasia that involves the cornea.	NCIT:C6093|UMLS:C1333159|DOID:6198|SNOMEDCT:420835009
CHEBI:50630	cyclooxygenase 1 inhibitor	biolink:ChemicalSubstance	mondo			COX-1 inhibitor|COX-1 inhibitors|PTGS1 inhibitors|prostaglandin H2 synthase 1 inhibitors|cyclooxygenase 1 inhibitors|prostaglandin G/H synthase 1 inhibitors|prostaglandin-endoperoxide synthase 1 inhibitors|cyclo-oxygenase 1 inhibitors|cyclooxygenase-1 inhibitors|prostaglandin-endoperoxide synthase 1 inhibitor|cyclooxygenase-1 inhibitor|cyclo-oxygenase 1 inhibitor|prostaglandin G/H synthase 1 inhibitor|prostaglandin H2 synthase 1 inhibitor|PTGS1 inhibitor	http://purl.obolibrary.org/obo/CHEBI_50630	A cyclooxygenase inhibitor that interferes with the action of cyclooxygenase 1.	
MONDO:0003802	cornea cancer	biolink:Disease	mondo	UMLS:C0153629|ICD10:C69.1|ICD9:190.4|DOID:6199|COHD:375490|NCIT:C3565|SCTID:363464006		cornea cancer|corneal tumor|malignant neoplasm of cornea|malignant cornea neoplasm|malignant cornea tumor|malignant neoplasm of the cornea|malignant corneal neoplasm|malignant neoplasm of cornea (primary)|malignant corneal tumor|cancer of cornea|malignant tumor of cornea|neoplasm of cornea|malignant tumor of the cornea	http://purl.obolibrary.org/obo/MONDO_0003802	A malignant neoplasm involving the cornea.	SNOMEDCT:363464006|UMLS:C0153629|NCIT:C3565|DOID:6199
CHEBI:23018	EC 4.2.1.1 (carbonic anhydrase) inhibitor	biolink:ChemicalSubstance	mondo			carbonate dehydratase inhibitors|carboxyanhydrase inhibitors|carbonate hydro-lyase (carbon-dioxide-forming) inhibitors|anhydrase inhibitors|EC 4.2.1.1 (carbonic anhydrase) inhibitors|carbonic anhydrase (EC 4.2.1.1) inhibitors|carbonic anhydrase (EC 4.2.1.1) inhibitor|anhydrase inhibitor|carbonate hydro-lyase (carbon-dioxide-forming) inhibitor|carbonate dehydratase inhibitor|carboxyanhydrase inhibitor|carbonate anhydrase inhibitors|EC 4.2.1.1 inhibitors|carbonic acid anhydrase inhibitors|carbonic anhydrase inhibitors|carbonate hydro-lyase inhibitors|carbonic anhydrase A inhibitors|carbonic anhydrase A inhibitor|carbonate hydro-lyase inhibitor|carbonic anhydrase inhibitor|carbonic acid anhydrase inhibitor|EC 4.2.1.1 inhibitor|carbonate anhydrase inhibitor	http://purl.obolibrary.org/obo/CHEBI_23018	An EC 4.2.1.* (hydro-lyases) inhibitor that interferes with the action of carbonic anhydrase (EC 4.2.1.1). Such compounds reduce the secretion of H(+) ions by the proximal kidney tubule.	
CHEBI:23019	carbonyl group	biolink:ChemicalSubstance	mondo			carbonyl group|>C=O|carbonyl	http://purl.obolibrary.org/obo/CHEBI_23019		
NCBITaxon:59263	Toxascaris	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_59263		
CHEBI:50634	acetazolamide(1-)	biolink:ChemicalSubstance	mondo			acetazolamide|[(5-acetamido-1,3,4-thiadiazol-2-yl)sulfonyl]azanide	http://purl.obolibrary.org/obo/CHEBI_50634		
HP:0032251	Abnormal immune system morphology	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0032251		
UBERON:0012423	layer of microvilli	biolink:AnatomicalEntity	mondo			microvillus|microvilli	http://purl.obolibrary.org/obo/UBERON_0012423	A layer of microvilli, Thin cylindrical membrane-covered projections on the surface of an animal cell containing a core bundle of actin filaments[GO,modified]	
UBERON:0012416	respiratory system arterial smooth muscle	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0012416		
CHEBI:60004	mixture	biolink:ChemicalSubstance	mondo			Mischung	http://purl.obolibrary.org/obo/CHEBI_60004	A mixture is a chemical substance composed of multiple molecules, at least two of which are of a different kind.	
UBERON:0012418	respiratory system venous smooth muscle	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0012418	A smooth muscle tissue that is part of a respiratory system venous blood vessel.	
UBERON:0000442	right testicular vein	biolink:AnatomicalEntity	mondo			right spermatic vein|vena testicularis sinistra|vena testicularis (adrenalis) dextra|vena testicularis dextra	http://purl.obolibrary.org/obo/UBERON_0000442	A vein that drains the left pampiniform plexus and empties into the left renal vein.	
UBERON:0000443	left testicular vein	biolink:AnatomicalEntity	mondo			vena testicularis sinistra|left spermatic vein|vena testicularis dextra	http://purl.obolibrary.org/obo/UBERON_0000443	A vein that drains the right pampiniform plexus and empties into the inferior vena cava.	
UBERON:0000440	trabecula	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0000440	A small, often microscopic, tissue element in the form of a small beam, strut or rod, generally having a mechanical function, and usually but not necessarily composed of dense collagenous tissue. On histological section, a trabecula can look like a septum, but in three dimensions they are topologically distinct, with trabeculae being roughly rod or pillar-shaped and septa being sheet-like. Trabeculae are usually composed of dense fibrous tissue, i.e. mainly of collagen, and in most cases provide mechanical strengthening or stiffening to a soft solid organ, such as the spleen. They can be composed of other materials, such as bone or muscle[WP].	
NCBITaxon:11286	Lyssavirus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_11286		
UBERON:0000428	prostate epithelium	biolink:AnatomicalEntity	mondo			prostate gland epithelial tissue|prostate epithelial tissue|prostatic epithelium|epithelium of prostatic gland|prostatic gland epithelium|epithelial tissue of prostate gland|epithelial tissue of prostate|epithelium of prostate gland|epithelium of prostate|prostate gland epithelium	http://purl.obolibrary.org/obo/UBERON_0000428	The prostate epithelium.	
HP:0020219	Motor seizure	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0020219	A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.	
MONDO:0003810	bladder diffuse clear cell adenocarcinoma	biolink:Disease	mondo	DOID:6210|UMLS:C1511187|NCIT:C39849		bladder diffuse clear cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003810	A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a diffuse pattern.	NCIT:C39849|DOID:6210|UMLS:C1511187
MONDO:0003811	ovarian seromucinous tumor	biolink:Disease	mondo	NCIT:C4508|DOID:6211|SCTID:254855000|EFO:1000425|UMLS:C0346166		ovarian Seromucinous tumor|mixed epithelial tumor of the ovary|ovarian mixed epithelial tumor|mixed epithelial tumor of ovary|ovarian mixed epithelial neoplasm|mixed epithelial neoplasm of the ovary|mixed epithelial neoplasm of ovary	http://purl.obolibrary.org/obo/MONDO_0003811	A benign, borderline, or malignant mixed epithelial tumor of the ovary. It is characterized by the presence of more than one epithelial cell type, most often serous and endocervical-type mucinous.	SNOMEDCT:254855000|NCIT:C4508|UMLS:C0346166|DOID:6211
MONDO:0003812	ovarian endometrial cancer	biolink:Disease	mondo	DOID:6212|UMLS:C1518231|NCIT:C40051		endometrioid tumor of ovary|ovarian endometrioid neoplasm|ovary female reproductive endometrioid cancer|ovary endometrioid tumor|malignant ovarian endometrioid tumor|endometrioid neoplasm of ovary	http://purl.obolibrary.org/obo/MONDO_0003812	A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells.	UMLS:C1518231|NCIT:C40051|DOID:6212
MONDO:0003813	ovarian papillary tumor	biolink:Disease	mondo	NCIT:C8430|DOID:6214|UMLS:C0476121		papillary neoplasm of ovary|ovarian papillary tumor (morphologic abnormality)|papillary tumor of the ovary|ovarian papillary neoplasm|ovarian papillary tumor|papillary tumor of ovary|ovarian papillary tumour|papillary neoplasm of the ovary	http://purl.obolibrary.org/obo/MONDO_0003813	A benign, borderline, or malignant epithelial tumor that arises from the ovary and is characterized by the presence of papillary proliferations. Representative examples include surface papilloma, borderline serous surface papillary tumor, and serous surface papillary adenocarcinoma.	DOID:6214|UMLS:C0476121|NCIT:C8430
CHEBI:49637	hydrogen atom	biolink:ChemicalSubstance	mondo			hydrogen|hydrogen|hidrogeno|H|Wasserstoff|1H|hydrogene	http://purl.obolibrary.org/obo/CHEBI_49637		
UBERON:0036441	wall of uterine tube	biolink:AnatomicalEntity	mondo			wall of oviduct|wall of fallopian tube|uterine tube wall	http://purl.obolibrary.org/obo/UBERON_0036441		
CHEBI:50629	cyclooxygenase 2 inhibitor	biolink:ChemicalSubstance	mondo			cyclo-oxygenase-2 inhibitors|COX-2 inhibitor|prostaglandin H synthase-2 inhibitor|prostaglandin H synthase-2 inhibitors|COX-2 inhibitors|cyclo-oxygenase-2 inhibitor|cyclooxygenase 2 inhibitors|cyclo-oxygenase 2 inhibitor|prostaglandin-endoperoxide synthase 2 inhibitor|PGHS-2 inhibitors|cyclooxygenase-2 inhibitor|prostaglandin-endoperoxide synthase 2 inhibitors|cyclo-oxygenase 2 inhibitors|PGHS-2 inhibitor|cyclooxygenase-2 inhibitors	http://purl.obolibrary.org/obo/CHEBI_50629	A cyclooxygenase inhibitor that interferes with the action of cyclooxygenase 2.	
HP:0010892	Abnormal circulating branched chain amino acid concentration	biolink:PhenotypicFeature	mondo	UMLS:C4023673			http://purl.obolibrary.org/obo/HP_0010892	Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation.	
HP:0032263	Increased blood pressure	biolink:PhenotypicFeature	mondo			Increased BP	http://purl.obolibrary.org/obo/HP_0032263	Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension.	
ENVO:00000339	piece of rock	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_00000339	An abiotic  mesoscopic feature made of the mineral material of the crust of the Earth.	
MONDO:0003807	obsolete follicular thyroid adenoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003807		
MONDO:0003808	mediastinal extraskeletal osteosarcoma	biolink:Disease	mondo	DOID:6208|NCIT:C6615|UMLS:C1334675		mediastinum osteosarcoma (disease)|mediastinal extraskeletal osteosarcoma|osteogenic sarcoma of the mediastinum|mediastinal osteosarcoma|osteogenic sarcoma of mediastinum|osteosarcoma of mediastinum|osteosarcoma of the mediastinum|mediastinal osteogenic sarcoma	http://purl.obolibrary.org/obo/MONDO_0003808	An osteosarcoma arising from the mediastinum.	NCIT:C6615|UMLS:C1334675|DOID:6208
MONDO:0003809	malignant mediastinum hemangiopericytoma	biolink:Disease	mondo	NCIT:C6608|DOID:6209|UMLS:C1334598		mediastinum hemangiopericytoma|malignant mediastinal hemangiopericytoma|malignant hemangiopericytoma of mediastinum|malignant hemangiopericytoma of the mediastinum|mediastinum spindle cell tumor	http://purl.obolibrary.org/obo/MONDO_0003809	A malignant hemangiopericytoma arising in the mediastinum.	NCIT:C6608|UMLS:C1334598|DOID:6209
NCBITaxon:11292	Rabies lyssavirus	organism taxon	mondo	GC_ID:1		Rabies virus	http://purl.obolibrary.org/obo/NCBITaxon_11292		
MONDO:0003803	aortic valve disease	biolink:Disease	mondo	ICD9:424.1|NCIT:C78650|UMLS:C1260873|DOID:62|ICD9:395		disorder of aortic valve|aortic valve disorder|disease of aortic valve|disease or disorder of aortic valve|disorder of aortic valve|aortic valve disease|aortic valve disease or disorder	http://purl.obolibrary.org/obo/MONDO_0003803	A disease involving the aortic valve.	DOID:62|UMLS:C1260873|NCIT:C78650
MONDO:0003804	blood protein disease	biolink:Disease	mondo	DOID:620|MESH:D001796|UMLS:C0005830		blood protein disorder|Protein disorder, blood|disorder, blood Protein|disorders, blood Protein|blood Protein disorder|Protein disorders, blood	http://purl.obolibrary.org/obo/MONDO_0003804		MESH:D001796|DOID:620|UMLS:C0005830
MONDO:0003805	malignant pericardial mesothelioma	biolink:Disease	mondo	UMLS:C0346110|HP:0100004|DOID:6201|UMLS:C1335381|ICD10:C45.2|NCIT:C7631|SCTID:109383000		malignant mesothelioma of the pericardium|pericardium malignant mesothelioma (disease)|pericardial malignant mesothelioma|malignant mesothelioma (disease) of pericardium|pericardial mesothelioma|pericardium mesothelioma|malignant pericardial mesothelioma|malignant mesothelioma of pericardium	http://purl.obolibrary.org/obo/MONDO_0003805	A rare neoplasm of mesothelial origin that arises from the pericardium.	SNOMEDCT:109383000|NCIT:C7631|UMLS:C0346110|UMLS:C1335381|DOID:6201
MONDO:0003806	thyroid hyalinizing trabecular adenoma	biolink:Disease	mondo	DOID:6203|ONCOTREE:HTAT|NCIT:C6846|ICDO:8336/0|EFO:1000588|UMLS:C1336751		PLAT|hyalinizing trabecular adenoma of the thyroid|paraganglioma-like adenoma|hyalinizing trabecular adenoma of thyroid|thyroid gland hyalinizing trabecular tumor|hyalinizing trabecular tumor|HTAT|thyroid hyalinizing trabecular adenoma	http://purl.obolibrary.org/obo/MONDO_0003806	A rare, circumscribed or encapsulated tumor arising from the follicular cells of the thyroid gland. It is characterized by a trabecular growth pattern and hyalinized stroma formation. The vast majority of cases have a benign clinical course.	NCIT:C6846|UMLS:C1336751|DOID:6203
MONDO:0001202	prostatic cyst	biolink:Disease	mondo	SCTID:409658007|DOID:11133|COHD:201617|ICD10:N42.83|UMLS:C1443972|ICD9:599.89|ICD9:600.3		cyst of prostate	http://purl.obolibrary.org/obo/MONDO_0001202		UMLS:C1443972|DOID:11133|SNOMEDCT:409658007
MONDO:0003865	acral lentiginous melanoma (disease)	biolink:Disease	mondo	ICDO:8744/3|SCTID:254732008|HP:0012060|GARD:0009570|NCIT:C4022|UMLS:C0346037|DOID:6367|ONCOTREE:ACRM		subungual melanoma|acral melanoma|acral lentiginous melanoma|acral lentiginous melanoma, malignant (morphologic abnormality)|acral lentiginous melanoma, malignant|ALM|malignant acral lentiginous melanoma|acral lentiginous malignant melanoma|acral lentiginous malignant melanoma of skin|palmar/plantar melanoma	http://purl.obolibrary.org/obo/MONDO_0003865	A form of melanoma occurring most often on the plantar, palmar, subungual, and periungual skin. It presents as a pigmented macular lesion with irregular borders. Morphologically, it consists of atypical spindled and dendritic melanocytes. The epidermis is often hyperplastic and there is pagetoid infiltration of the epidermis by anaplastic cells.	DOID:6367|SNOMEDCT:254732008|NCIT:C4022|UMLS:C0346037
MONDO:0003866	liver extraskeletal osteosarcoma	biolink:Disease	mondo	UMLS:C1333974|DOID:6370|NCIT:C5833		liver osteogenic sarcoma|liver extraskeletal osteosarcoma|osteogenic sarcoma of the liver|hepatic osteosarcoma|osteogenic sarcoma of liver|liver osteosarcoma (disease)|osteosarcoma of liver|liver osteosarcoma|hepatic osteogenic sarcoma|osteosarcoma of the liver|hepatic extraskeletal osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0003866	An osteosarcoma arising from the liver.	DOID:6370|UMLS:C1333974|NCIT:C5833
MONDO:0001201		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001201		
MONDO:0001200	secondary hypertension	biolink:Disease	mondo	ICD9:405|ICD10:I15|UMLS:C0155616|DOID:11130|SCTID:31992008|ICD9:405.9|ICD10:I15.9|EFO:1002034|COHD:319826|ICD9:405.99			http://purl.obolibrary.org/obo/MONDO_0001200	High blood pressure caused by an underlying medical condition.	NCIT:C3657|SNOMEDCT:31992008|UMLS:C0155616|DOID:11130
MONDO:0003867	diffuse meningeal melanocytosis	biolink:Disease	mondo	EFO:1000216|UMLS:C1266112|NCIT:C6890|DOID:6379|ICDO:8728/0		diffuse melanocytosis (morphologic abnormality)|meningeal melanocytosis|diffuse melanocytosis|diffuse melanosis	http://purl.obolibrary.org/obo/MONDO_0003867	A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO)	DOID:6379|UMLS:C1266112|NCIT:C6890
MONDO:0003868	anterior foramen magnum meningioma	biolink:Disease	mondo	DOID:6381|UMLS:C1332302|NCIT:C5281		meningioma of the anterior Foramen magnum|meningioma of anterior Foramen magnum	http://purl.obolibrary.org/obo/MONDO_0003868	A meningioma that affects the anterior foramen magnum.	DOID:6381|UMLS:C1332302|NCIT:C5281
MONDO:0003861	vulvar eccrine adenocarcinoma	biolink:Disease	mondo	UMLS:C2202743|DOID:6339|NCIT:C40305		eccrine carcinoma of mammalian vulva|mammalian vulva eccrine carcinoma|vulvar eccrine adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003861	An eccrine adenocarcinoma that arises from the sweat glands in the vulva.	DOID:6339|NCIT:C40305|UMLS:C2202743
MONDO:0001206	aqueous misdirection	biolink:Disease	mondo	ICD10:H40.83|ICD9:365.83|DOID:11149			http://purl.obolibrary.org/obo/MONDO_0001206		DOID:11149
UBERON:0012482	submucosa of cloaca	biolink:AnatomicalEntity	mondo			cloaca submucosa|cloacal submucosa	http://purl.obolibrary.org/obo/UBERON_0012482	A submucosa that is part of a cloaca [Automatically generated definition].	
MONDO:0003862	melanotic psammomatous malignant peripheral nerve sheath tumor	biolink:Disease	mondo	DOID:6344|UMLS:C1513101|NCIT:C6910		melanotic psammomatous malignant peripheral nerve sheath tumor|melanocytic psammomatous malignant peripheral nerve sheath tumor|melanocytic psammomatous MPNST	http://purl.obolibrary.org/obo/MONDO_0003862	A malignant peripheral nerve sheath tumor characterized by the presence of malignant cells that contain melanin and formation of psammoma bodies.	DOID:6344|UMLS:C1513101|NCIT:C6910
MONDO:0001205	hypersecretion glaucoma	biolink:Disease	mondo	ICD10:H40.82|ICD9:365.81|UMLS:C0154968|SCTID:29369005|DOID:11148			http://purl.obolibrary.org/obo/MONDO_0001205		UMLS:C0154968|SNOMEDCT:29369005|DOID:11148
UBERON:0012481	cloacal epithelium	biolink:AnatomicalEntity	mondo			cloacal endoderm	http://purl.obolibrary.org/obo/UBERON_0012481	An epithelium that is part of a cloaca.	
MONDO:0003863	malignant melanocytic neoplasm of the peripheral nerve sheath	biolink:Disease	mondo	UMLS:C0474847|DOID:6345|NCIT:C4748|SCTID:404039004|ICD9:171.9		melanocytic MPNST|melanotic malignant peripheral nerve sheath tumour|melanotic malignant peripheral nerve sheath tumor (morphologic abnormality)|malignant melanotic peripheral nerve sheath tumor|melanotic malignant peripheral nerve sheath tumor|melanotic malignant nerve sheath tumor|malignant melanocytic neoplasm of the peripheral nerve sheath|malignant melanocytic neoplasm of peripheral nerve sheath|malignant melanocytic peripheral nerve sheath tumor	http://purl.obolibrary.org/obo/MONDO_0003863	A rare variant of malignant peripheral nerve sheath tumor. It is characterized by the presence of malignant cells that contain melanin.	DOID:6345|SNOMEDCT:404039004|UMLS:C0474847|NCIT:C4748
MONDO:0001204	esophagus sarcoma	biolink:Disease	mondo	NCIT:C5341|DOID:1114|UMLS:C1333466		esophagus sarcoma|sarcoma, esophagus|esophageal sarcoma|sarcoma of esophagus|sarcoma of the esophagus	http://purl.obolibrary.org/obo/MONDO_0001204	A malignant soft tissue neoplasm that arises from the esophagus. Representative examples include Kaposi sarcoma, leiomyosarcoma, rhabdomyosarcoma, and synovial sarcoma.	UMLS:C1333466|DOID:1114|NCIT:C5341
UBERON:0012480	cloacal mucosa	biolink:AnatomicalEntity	mondo			cloaca mucous membrane|cloaca mucosa|cloaca organ mucosa|mucosa of organ of cloaca|cloacal mucous membrane|mucosa of cloaca|organ mucosa of cloaca|mucous membrane of cloaca|cloaca mucosa of organ	http://purl.obolibrary.org/obo/UBERON_0012480	A mucosa that is part of a cloaca [Automatically generated definition].	
MONDO:0003864	chronic lymphocytic leukemia/small lymphocytic lymphoma	biolink:Disease	mondo	NCIT:C27911|UMLS:C1302547|ICDO:9823/3|ONCOTREE:CLLSLL|DOID:6354		chronic lymphocytic leukemia/small lymphocytic lymphoma (morphologic abnormality)|CLL/SLL|chronic lymphocytic leukemia/small lymphocytic lymphoma	http://purl.obolibrary.org/obo/MONDO_0003864	An indolent, mature B-cell neoplasm composed of small, round B-lymphocytes. When the bone marrow and peripheral blood are involved, the term chronic lymphocytic leukemia is used. The term small lymphocytic lymphoma is restricted to cases which do not show leukemic involvement of the bone marrow and peripheral blood.	DOID:6354|UMLS:C1302547|NCIT:C27911
MONDO:0001203	prolapse of lacrimal gland	biolink:Disease	mondo	ICD9:375.16|COHD:379814|UMLS:C0155231|ICD10:H04.16|SCTID:84777002|DOID:11134		dislocation of lacrimal gland	http://purl.obolibrary.org/obo/MONDO_0001203		UMLS:C0155231|DOID:11134|SNOMEDCT:84777002
UBERON:0012486	muscle layer of cloaca	biolink:AnatomicalEntity	mondo			smooth muscle of cloaca|muscularis externa of cloaca	http://purl.obolibrary.org/obo/UBERON_0012486	A muscular coat that is part of a cloaca.	
UBERON:0012485	cloacal villus	biolink:AnatomicalEntity	mondo			cloacal villi	http://purl.obolibrary.org/obo/UBERON_0012485		
MONDO:0015849	longitudinal vaginal septum	biolink:Disease	mondo	Orphanet:180157|ICD10:Q52.1|HP:0008740	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0015849		ORPHA:180157
MONDO:0003860	cerebellopontine angle meningioma	biolink:Disease	mondo	UMLS:C1263882|SCTID:126948004|DOID:6337|NCIT:C5300		meningioma of cerebellopontine angle|meningioma of cerebellar Pontine angle|meningioma of the cerebellopontine angle|meningioma of the cerebellar Pontine angle|meningioma (disease) of cerebellopontine angle|cerebellar Pontine angle meningioma|cerebellopontine angle meningioma (disease)|C-P angle meningioma|meningioma of the C-P angle|meningioma of C-P angle	http://purl.obolibrary.org/obo/MONDO_0003860	A meningioma that affects the cerebellopontine angle.	DOID:6337|SNOMEDCT:126948004|NCIT:C5300|UMLS:C1263882
MONDO:0015848	septate vagina	biolink:Disease	mondo	COHD:4186281|HP:0001153|ICD9:752.49|Orphanet:180154|ICD10:Q52.1|SCTID:47054003	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0015848		SNOMEDCT:47054003|UMLS:C0266411|ORPHA:180154
UBERON:0012483	serosa of cloaca	biolink:AnatomicalEntity	mondo			cloaca serous membrane|visceral peritoneum of cloaca|cloacal serosa|serous membrane of cloaca|cloaca serosa	http://purl.obolibrary.org/obo/UBERON_0012483	A serous membrane that is part of a cloaca [Automatically generated definition].	
UBERON:0012489	muscle layer of colon	biolink:AnatomicalEntity	mondo			muscularis externa of colon|tunica muscularis coli|colonic muscularis propria|muscular coat of colon|colon muscularis|muscular layer of colon	http://purl.obolibrary.org/obo/UBERON_0012489	A muscular coat that is part of a colon.	
UBERON:0012488	muscle layer of duodenum	biolink:AnatomicalEntity	mondo			smooth muscle of duodenum|muscularis propria of duodenum|muscularis externa of duodenum|duodenal muscularis propria	http://purl.obolibrary.org/obo/UBERON_0012488	A muscular coat that is part of a duodenum.	
UBERON:0012487	vaginal sphincter	biolink:AnatomicalEntity	mondo			sphincter of vagina	http://purl.obolibrary.org/obo/UBERON_0012487	A sphincter muscle that is part of a vagina.	
MONDO:0015854	supernumerary breasts	biolink:Disease	mondo	MedDRA:10049786|ICD10:Q83.1|Orphanet:180182	ordo_morphological_anomaly	accessory breasts|polymastia	http://purl.obolibrary.org/obo/MONDO_0015854		UMLS:C0266010|MEDDRA:10049786|ORPHA:180182
MONDO:0015853	deficient breast volume or number	biolink:Disease	mondo	Orphanet:180173	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015853		ORPHA:180173
MONDO:0015852	excess breast volume or number	biolink:Disease	mondo	Orphanet:180170	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015852		ORPHA:180170
MONDO:0015851	rare breast malformation	biolink:Disease	mondo	Orphanet:180163	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0015851		ORPHA:180163
MONDO:0015858	rare non-malformative breast disease	biolink:Disease	mondo	UMLS:CN200460|Orphanet:180202	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015858		UMLS:CN200460|ORPHA:180202
MONDO:0015857	rare non-malformative gynecologic or obstetric disease	biolink:Disease	mondo	Orphanet:180199|UMLS:CN200458	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015857		ORPHA:180199|UMLS:CN200458
MONDO:0015856	syndromic breast hypoplasia/aplasia	biolink:Disease	mondo	UMLS:CN226755|Orphanet:180193	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015856		UMLS:CN226755|ORPHA:180193
ENVO:00000309	depression	biolink:OntologyClass	mondo			non tidal basin|barrier basin|pan|pan (geologic)|depression|pans|tidal basin	http://purl.obolibrary.org/obo/ENVO_00000309	A landform sunken or depressed below the surrounding area.	
MONDO:0015855	isolated congenital breast hypoplasia/aplasia	biolink:Disease	mondo	Orphanet:180188|ICD10:Q83.0|OMIMPS:113700	ordo_morphological_anomaly	isolated congenital amastia|breasts and/or nipples, aplasia or hypoplasia of	http://purl.obolibrary.org/obo/MONDO_0015855		ORPHA:180188
ENVO:00000304	shore	biolink:OntologyClass	mondo			seashore|beach face|inshore|strand|shoreface|coastal zone|shore|SHORE|foreshore|rivage	http://purl.obolibrary.org/obo/ENVO_00000304	That part of the land in immediate contact with a body of water including the area between high and low water lines.	
NCBITaxon:1350	Enterococcus	organism taxon	mondo	PMID:8427810|PMID:9103648|GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_1350		
NCBITaxon:1351	Enterococcus faecalis	organism taxon	mondo	GC_ID:11		Streptococcus glycerinaceus|Enterocoque|Micrococcus ovalis|Streptococcus faecalis|Micrococcus zymogenes|Enterococcus proteiformis|Streptococcus liquefaciens	http://purl.obolibrary.org/obo/NCBITaxon_1351		
MONDO:0015850	transverse vaginal septum	biolink:Disease	mondo	Orphanet:180160|ICD10:Q52.11|HP:0000145|ICD10:Q52.1	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0015850		ORPHA:180160
MONDO:0003858	anterior optic tract meningioma	biolink:Disease	mondo	NCIT:C7538|UMLS:C1332308|DOID:6334		anterior visual pathway meningioma	http://purl.obolibrary.org/obo/MONDO_0003858	A meningioma that affects the anterior visual pathway.	DOID:6334|UMLS:C1332308|NCIT:C7538
MONDO:0003859	bilateral meningioma of optic nerve	biolink:Disease	mondo	NCIT:C5304|DOID:6335|UMLS:C1332551		bilateral optic nerve meningioma|bilateral meningioma of the optic nerve	http://purl.obolibrary.org/obo/MONDO_0003859	Meningiomas that affects both optic nerves.	NCIT:C5304|DOID:6335|UMLS:C1332551
ENVO:00000300	scrubland area	biolink:OntologyClass	mondo			bush|heath|shrubland|scrub|scrubland|chaparal area	http://purl.obolibrary.org/obo/ENVO_00000300	Area covered with low-growing or stunted perennial vegetation and usually not mixed with trees.	
MONDO:0001213	serous glue ear	biolink:Disease	mondo	COHD:381301|ICD10:H65.20|ICD9:381.1|ICD9:381.19|DOID:11181|ICD9:381.10|UMLS:C0155421|ICD10:H65.2|SCTID:81564005		chronic secretory otitis media, serous|chronic serous otitis media|serous otitis media, chronic	http://purl.obolibrary.org/obo/MONDO_0001213	Chronic form of serous otitis media.	DOID:11181|UMLS:C0155421|SNOMEDCT:81564005
MONDO:0003876	eyelid carcinoma	biolink:Disease	mondo	NCIT:C6078|DOID:6425|UMLS:C0920196		carcinoma of eyelid|eyelid carcinoma|carcinoma of the eyelid	http://purl.obolibrary.org/obo/MONDO_0003876	A carcinoma that arises from epithelial cells of the eyelid.	DOID:6425|UMLS:C0920196|NCIT:C6078
MONDO:0001212	non-suppurative otitis media	biolink:Disease	mondo	ICD10:H65|UMLS:C0271446|DOID:11180|ICD10:H65.9|ICD10:H65.90|SCTID:275481002|ICD9:381.4|COHD:4170137		nonsuppurative otitis media	http://purl.obolibrary.org/obo/MONDO_0001212	A otitis media which involves transudation of fluid in the middle ear without pus formation.	UMLS:C0271446|SNOMEDCT:275481002|DOID:11180
CHEBI:23004	carbamoyl group	biolink:ChemicalSubstance	mondo			-CONH2|aminocarbonyl|carbamoyl|carbamyl|carbamyl group|-C(O)NH2|carboxamide	http://purl.obolibrary.org/obo/CHEBI_23004	The univalent carboacyl group formed by loss of -OH from the carboxy group of carbamic acid.	
MONDO:0003877	obsolete cervical adenoid basal carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003877		
MONDO:0003878	malignant choroid melanoma	biolink:Disease	mondo	NCIT:C4561|DOID:6438|SCTID:255021005|UMLS:C0346388		melanoma of the choroid|optic choroid melanoma|melanoma of choroid|malignant melanoma of the choroid|malignant melanoma of choroid|choroidal melanoma|melanoma (disease) of optic choroid|choroid malignant melanoma|choroid melanoma|optic choroid melanoma (disease)	http://purl.obolibrary.org/obo/MONDO_0003878	A uveal melanoma that arises from the choroid. It is the most common primary malignant intraocular tumor. It usually affects Caucasians of northern European descent. It usually remains asymptomatic for a long period. When signs and symptoms occur, they include blurred vision, visual field loss, floaters, and ocular pain. Tumor size is the most important factor that relates to prognosis.	DOID:6438|SNOMEDCT:255021005|NCIT:C4561|UMLS:C0346388
MONDO:0001211	total internal ophthalmoplegia	biolink:Disease	mondo	UMLS:C0152197|ICD9:367.52|SCTID:86266009|DOID:11177			http://purl.obolibrary.org/obo/MONDO_0001211		DOID:11177|SNOMEDCT:86266009|UMLS:C0152197
MONDO:0001210	enophthalmos (disease)	biolink:Disease	mondo	SCTID:80093006|HP:0000490|UMLS:C0014306|ICD9:376.50|MESH:D015841|COHD:436986|ICD10:H05.4|ICD10:H05.40|DOID:11175|ICD9:376.5		enophthalmos	http://purl.obolibrary.org/obo/MONDO_0001210	Abnormal recession of the eyeball within the eye socket.	UMLS:C0014306|MESH:D015841|DOID:11175|SNOMEDCT:80093006|NCIT:C79552
MONDO:0003879	ovarian endometrioid adenocarcinofibroma	biolink:Disease	mondo	NCIT:C40060|DOID:6445|UMLS:C1518711|ICDO:8381/3		ovarian endometrioid adenocarcinofibroma|ovarian endometrioid malignant adenofibroma	http://purl.obolibrary.org/obo/MONDO_0003879	A malignant neoplasm of the ovary characterized by the presence of malignant glandular cells resembling endometrial cells in a fibrotic stroma.	NCIT:C40060|DOID:6445|UMLS:C1518711
MONDO:0001217	pseudomembranous conjunctivitis	biolink:Disease	mondo	COHD:381568|ICD10:H10.22|UMLS:C0155144|NCIT:C35196|ICD9:372.04|SCTID:72115001|DOID:11190|GARD:0008446	gard_rare	conjunctivitis with pseudomembrane	http://purl.obolibrary.org/obo/MONDO_0001217	Conjunctivitis that is characterized by formation of a pseudomembrane.	NCIT:C35196|SNOMEDCT:72115001|UMLS:C0155144|DOID:11190
MONDO:0003872	ovarian papillary cystadenoma	biolink:Disease	mondo	DOID:6405|NCIT:C7278|UMLS:C1335175		ovarian papillary cystadenoma	http://purl.obolibrary.org/obo/MONDO_0003872	A serous cystadenoma of the ovary characterized by the presence of small papillary projections in the inner surface of the cysts.	NCIT:C7278|UMLS:C1335175|DOID:6405
MONDO:0003873	ovarian surface papilloma	biolink:Disease	mondo	DOID:6407|UMLS:C1335183|NCIT:C7279		ovarian surface papilloma	http://purl.obolibrary.org/obo/MONDO_0003873	A benign serous neoplasm characterized by the presence of papillary proliferations on the surface of the ovary.	DOID:6407|NCIT:C7279|UMLS:C1335183
MONDO:0001216	pulp degeneration	biolink:Disease	mondo	ICD9:522.2|UMLS:C0034100|COHD:435854|SCTID:22361007|ICD10:K04.2|DOID:11189			http://purl.obolibrary.org/obo/MONDO_0001216	Deterioration of the normal pulp tissue.	NCIT:C34962|UMLS:C0034100|DOID:11189|SNOMEDCT:22361007
MONDO:0001215	allescheriosis	biolink:Disease	mondo	DOID:11186|ICD10:B48.2|ICD9:117.6|SCTID:80936003|UMLS:C0153285		Petriellidosis	http://purl.obolibrary.org/obo/MONDO_0001215	A primary systemic mycosis that results in systemic fungal infection, has material basis in Pseudallescheria boydii, which results in formation of abscesses.	SNOMEDCT:80936003|DOID:11186|UMLS:C0153285
MONDO:0003874	ovarian serous surface papillary adenocarcinoma	biolink:Disease	mondo	DOID:6408|NCIT:C6256|UMLS:C1335178		ovary papillary carcinoma|serous surface papillary carcinoma of ovary|ovarian serous surface papillary adenocarcinoma|serous surface papillary carcinoma of the ovary	http://purl.obolibrary.org/obo/MONDO_0003874	A serous adenocarcinoma that arises from the ovary and is characterized by the presence of a papillary architectural pattern.	DOID:6408|NCIT:C6256|UMLS:C1335178
MONDO:0001214	acute conjunctivitis	biolink:Disease	mondo	DOID:11184|ICD10:H10.02|SCTID:53726008|UMLS:C0155141|NCIT:C35195|ICD9:372.00|COHD:376707|ICD9:372.03		acute conjunctivitis (disease)|conjunctivitis (disease), acute	http://purl.obolibrary.org/obo/MONDO_0001214	Acute inflammation of the conjunctiva.	NCIT:C35195|SNOMEDCT:53726008|UMLS:C0155141|DOID:11184
MONDO:0003875	childhood central nervous system mature teratoma	biolink:Disease	mondo	UMLS:C1332955|DOID:6423|NCIT:C27404		childhood central nervous system mature teratoma|pediatric central nervous system mature teratoma|central nervous system mature teratoma of childhood|pediatric central nervous system mature teratoma	http://purl.obolibrary.org/obo/MONDO_0003875	A mature teratoma that arises from the central nervous system during childhood.	DOID:6423|UMLS:C1332955|NCIT:C27404
UBERON:0012475	skeleton of pectoral complex	biolink:AnatomicalEntity	mondo			skeleton of anterior limb/fin and girdle|upper limb skeleton|set of bones of upper limb|pectoral complex skeleton|ossa membri superioris|bones of upper limb	http://purl.obolibrary.org/obo/UBERON_0012475	The collection of all skeletal elements in a pectoral complex - i.e. the combination of free limb or fin plus pectoral girdle.	
MONDO:0015839	septate uterus	biolink:Disease	mondo	ICD10:Q51.2|Orphanet:180122|MedDRA:10062606|SCTID:22504001	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015839		UMLS:C0152240|ORPHA:180122|SNOMEDCT:22504001|MEDDRA:10062606
MONDO:0015838	cordiform uterus	biolink:Disease	mondo	SCTID:14689000|ICD10:Q51.3|Orphanet:180118	ordo_morphological_anomaly	uterus arcuatus|uterus cordiformis	http://purl.obolibrary.org/obo/MONDO_0015838		UMLS:C0266397|ORPHA:180118|SNOMEDCT:14689000
MONDO:0003870	childhood brainstem astrocytoma	biolink:Disease	mondo	DOID:6386|NCIT:C6216|UMLS:C1332950		pediatric brain stem astrocytic neoplasm|pediatric brain stem astrocytic neoplasm|brain stem astrocytic neoplasm of childhood|childhood brain stem astrocytic neoplasm|childhood brain stem astrocytoma|childhood brainstem astrocytoma	http://purl.obolibrary.org/obo/MONDO_0003870	An astrocytoma that arises from the brain stem and occurs during childhood.	UMLS:C1332950|NCIT:C6216|DOID:6386
MONDO:0015837	Unicervical bicornuate uterus	biolink:Disease	mondo	Orphanet:180114|ICD10:Q51.3	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015837		ORPHA:180114
MONDO:0003871	obsolete metanephric adenoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003871		
UBERON:0012478	cloacal gland	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0012478	A gland that is part of a cloaca.	
UBERON:0012477	dorsal part of neck	biolink:AnatomicalEntity	mondo			hindneck|nape of neck|back of neck|nuchal region|nape|posterior part of neck|regio cervicalis posterior|neck back|posterior cervical region|nucha|posterior neck region	http://purl.obolibrary.org/obo/UBERON_0012477	The posterior region of the neck, including the suboccipital region.	
UBERON:0012476	skeleton of pelvic complex	biolink:AnatomicalEntity	mondo			ossa membri inferioris|pelvic complex skeleton|skeleton of posterior limb/fin and girdle|set of bones of lower limb|lower limb skeleton|bones of lower limb	http://purl.obolibrary.org/obo/UBERON_0012476	The collection of all skeletal elements in a pelvic complex - i.e. the combination of free limb or fin plus pelvic girdle.	
MONDO:0015843	uterine hypoplasia	biolink:Disease	mondo	ICD10:Q51.8|Orphanet:180139|MedDRA:10063146	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0015843		UMLS:C0266399|MEDDRA:10063146|ORPHA:180139
MONDO:0015842	bicornuate uterus	biolink:Disease	mondo	Orphanet:180134|ICD10:Q51.3|SCTID:31401003|MedDRA:10004550|COHD:4150816	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015842		UMLS:C0266387|ORPHA:180134|MEDDRA:10004550|SNOMEDCT:31401003
UBERON:0000490	unilaminar epithelium	biolink:AnatomicalEntity	mondo			unilaminar epithelia|simple epithelium	http://purl.obolibrary.org/obo/UBERON_0000490	Epithelium which consists of a single layer of epithelial cells. Examples: endothelium, mesothelium, glandular squamous epithelium.[FMA]	
MONDO:0015841	partial septate uterus	biolink:Disease	mondo	Orphanet:180129|ICD10:Q51.2|SCTID:5364006	ordo_morphological_anomaly	uterus subseptus|subtotal septate uterus	http://purl.obolibrary.org/obo/MONDO_0015841	Partial septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which extends from the uterine fundus and does not reach the internal cervical os (variable lengths and widths may be observed). Although frequently asymptomatic, an increased risk of poor reproductive outcome has been observed. Urinary tract abnormalities are very rarely associated.	SNOMEDCT:5364006|ORPHA:180129
UBERON:0012469	external anal region	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0012469		
MONDO:0015840	complete septate uterus	biolink:Disease	mondo	ICD10:Q51.2|Orphanet:180126	ordo_morphological_anomaly	total septate uterus	http://purl.obolibrary.org/obo/MONDO_0015840	Complete septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhoea, unilateral obstruction, and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent.	ORPHA:180126
MONDO:0015847	rare vaginal malformation	biolink:Disease	mondo	Orphanet:180151|UMLS:CN226752	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015847		UMLS:CN226752|ORPHA:180151
MONDO:0015846	syndromic uterovaginal malformation	biolink:Disease	mondo	UMLS:CN226751|Orphanet:180148	ordo_group_of_disorders	syndrome associated with uterovaginal malformation|syndromic uterovaginal malformation|syndrome associated with uterovaginal malformation	http://purl.obolibrary.org/obo/MONDO_0015846	A uterovaginal malformation that is part of a larger syndrome.	ORPHA:180148|UMLS:CN226751
MONDO:0015845	uterine cervical aplasia and agenesis	biolink:Disease	mondo	Orphanet:180145|ICD10:Q51.5	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0015845		ORPHA:180145
MONDO:0015844	agenesis and aplasia of uterine body	biolink:Disease	mondo	Orphanet:180142|ICD10:Q51.0	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0015844		ORPHA:180142
HGNC:7372	MSMB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7372		
MONDO:0001209	common wart	biolink:Disease	mondo	ICD10:B07.8|ICD9:078.10|NCIT:C27087|DOID:11165|UMLS:C0043037|MESH:D014860|ICD9:078.1|ICD10:B07|SCTID:57019003|ICD9:078.19		viral Warts due to papilloma virus|wart|common wart|verruca vulgaris|viral wart|viral Warts	http://purl.obolibrary.org/obo/MONDO_0001209	A wart caused by human papillomavirus. It can appear anywhere on the skin.	UMLS:C0043037|MESH:D014860|SNOMEDCT:57019003|NCIT:C27087|DOID:11165
MONDO:0001208	acute respiratory failure	biolink:Disease	mondo	COHD:319049|SCTID:65710008|ICD9:518.81|NCIT:C27043|UMLS:C0264490		acute respiratory failure|respiratory failure, acute	http://purl.obolibrary.org/obo/MONDO_0001208	Life-threatening respiratory failure that develops rapidly. Causes include injury, sepsis, drug overdose, and pancreatitis. It manifests with dyspnea and cyanosis and may lead to cardiovascular shock.	SNOMEDCT:65710008|UMLS:C0264490|NCIT:C27043
MONDO:0001207	neonatal respiratory failure	biolink:Disease	mondo	COHD:4317960|SCTID:95619009|DOID:11161|UMLS:C0521648|ICD9:770.84|ICD10:P28.5		respiratory failure of newborn	http://purl.obolibrary.org/obo/MONDO_0001207		UMLS:C0521648|DOID:11161|SNOMEDCT:95619009
HGNC:7373	MSN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7373		
MONDO:0003869	childhood brain stem glioma	biolink:Disease	mondo	DOID:6383|NCIT:C9042|UMLS:C0278600|GARD:0009306	gard_rare	childhood brain stem glioma|pediatric brain stem glioma|childhood glioma of brain stem|childhood glioma of the brain stem|pediatric brainstem glioma|childhood glioma of the brainstem|childhood glioma of brainstem|brain stem glioma of childhood|brain stem glioma|pediatric glioma of the brainstem|pediatric glioma of brain stem|pediatric glioma of the brain stem|childhood brainstem glioma|pediatric glioma of brainstem|pediatric brain stem glioma	http://purl.obolibrary.org/obo/MONDO_0003869	An abnormal growth of the cells that comprise the tissues of the brainstem. While the tumor may be histologically benign, it can produce great morbidity due to its location. It presents most commonly in the first two decades of life.	DOID:6383|NCIT:C9042|UMLS:C0278600
HGNC:7376	MSR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7376		
MONDO:0003843	cerebral hemisphere lipoma	biolink:Disease	mondo	DOID:6291|NCIT:C6220|UMLS:C1332907		cerebral hemisphere lipoma|lipoma of the cerebral hemisphere|lipoma of cerebral hemisphere	http://purl.obolibrary.org/obo/MONDO_0003843	A rare benign adipose tissue neoplasm within the cerebral hemisphere often associated with partial or complete agenesis of the corpus callosum.	DOID:6291|UMLS:C1332907|NCIT:C6220
MONDO:0003844	central nervous system lipoma	biolink:Disease	mondo	DOID:6293|UMLS:C1332885|NCIT:C5451		CNS lipoma|lipoma of the CNS|lipoma of central nervous system|lipoma of the central nervous system|central nervous system lipoma|lipoma of CNS	http://purl.obolibrary.org/obo/MONDO_0003844	A rare benign adipose tissue neoplasm of the central nervous system frequently found in midline locations such as the corpus callosum, the quadrigeminal plate, the hypothalamus, the spinal canal or the cauda equina. Some contain Schwann cells, bone, cartilage or hamartomatous blood vessels.	NCIT:C5451|DOID:6293|UMLS:C1332885
MONDO:0003845	corpus callosum lipoma	biolink:Disease	mondo	UMLS:C1333160|DOID:6294|NCIT:C5438		lipoma of the corpus callosum|corpus callosum lipoma|lipoma of corpus callosum	http://purl.obolibrary.org/obo/MONDO_0003845	A rare benign adipose tissue neoplasm of the corpus callosum.	NCIT:C5438|UMLS:C1333160|DOID:6294
MONDO:0003846	viral esophagitis	biolink:Disease	mondo	SCTID:235603003|DOID:6297|NCIT:C27108|UMLS:C0341110		Viruses caused esophagitis (disease)|viral esophagitis|Viruses esophagitis (disease)	http://purl.obolibrary.org/obo/MONDO_0003846	Viral infection of the esophagus. It often occurs in immunocompromised patients and it is caused by cytomegalovirus or herpes simplex virus. Symptoms include pain on swallowing, fever, and retrosternal burning.	DOID:6297|SNOMEDCT:235603003|UMLS:C0341110|NCIT:C27108
UBERON:0000479	tissue	biolink:AnatomicalEntity	mondo			portion of tissue|tissue portion|simple tissue	http://purl.obolibrary.org/obo/UBERON_0000479	Multicellular anatomical structure that consists of many cells of one or a few types, arranged in an extracellular matrix such that their long-range organisation is at least partly a repetition of their short-range organisation.	
MONDO:0003840	epicardium lipoma	biolink:Disease	mondo	UMLS:C1333411|DOID:6284|NCIT:C6742		lipoma of the epicardium|epicardial lipoma|epicardium lipoma|lipoma of epicardium	http://purl.obolibrary.org/obo/MONDO_0003840	A rare benign adipose tissue neoplasm of the epicardium of the heart.	DOID:6284|UMLS:C1333411|NCIT:C6742
MONDO:0003841	heart lipoma	biolink:Disease	mondo	DOID:6285|UMLS:C1332849|NCIT:C6741		Cardiac lipoma|heart lipoma|lipoma of heart|lipoma of the heart	http://purl.obolibrary.org/obo/MONDO_0003841	A rare benign adipose tissue neoplasm of the heart usually originating in the epicardial or pericardial fatty tissue.	DOID:6285|UMLS:C1332849|NCIT:C6741
HGNC:7381	MST1R	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7381		
MONDO:0003842	childhood cerebellar astrocytic neoplasm	biolink:Disease	mondo	DOID:6286|GARD:0009301|UMLS:C0278594|NCIT:C6286		cerebellar astrocytoma, childhood|cerebellum juvenile astrocytoma|childhood astrocytoma of cerebellum|childhood cerebellar astrocytoma|childhood astrocytoma of the cerebellum|pediatric astrocytoma of cerebellum|cerebellum childhood astrocytic tumor|pediatric cerebellar astrocytoma|cerebellar astrocytoma|pediatric astrocytoma of the cerebellum|childhood astrocytic tumor of cerebellum	http://purl.obolibrary.org/obo/MONDO_0003842	Benign and malignant astrocytomas that arise from astrocytes in the cerebellum. More than 80% of childhood cerebellar astrocytomas are pilocytic astrocytomas which have a favorable prognosis. The remainder are composed of diffuse or fibrillary subtypes with malignant astrocytomas occurring only rarely in the cerebellum during childhood.	DOID:6286|UMLS:C0278594|NCIT:C6286
MONDO:0015829	non-syndromic uterovaginal malformation	biolink:Disease	mondo	Orphanet:180065	ordo_group_of_disorders	nonsyndromic uterovaginal malformation|isolated uterovaginal malformation|isolated uterovaginal malformation	http://purl.obolibrary.org/obo/MONDO_0015829	A uterovaginal malformation that is not part of a larger syndrome.	ORPHA:180065
UBERON:0012464	cloacal vent	biolink:AnatomicalEntity	mondo			vent|cloacal opening|cloacal orifice	http://purl.obolibrary.org/obo/UBERON_0012464	The opening of the cloacal chamber to the outside of the organism. Birds maintain a single cloacal opening throughout their lives.	
UBERON:0012463	cloacal lumen	biolink:AnatomicalEntity	mondo			cloacal chamber|cloaca lumen	http://purl.obolibrary.org/obo/UBERON_0012463	A anatomical space that is enclosed by a cloaca.	
MONDO:0015828	uterovaginal malformation	biolink:Disease	mondo	Orphanet:180062	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015828		ORPHA:180062
MONDO:0015827	distal renal tubular acidosis (disease)	biolink:Disease	mondo	ICD10:N25.8|MedDRA:10045224|SCTID:236461000|Orphanet:18|OMIMPS:179800|GARD:0004667|HP:0008341|ICD9:588.89	ordo_disease	classic RTA|renal tubular acidosis, distal|renal tubular acidosis type 1|distal renal tubular acidosis|dRTA|familial distal primary acidosis	http://purl.obolibrary.org/obo/MONDO_0015827	Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia.	SNOMEDCT:236461000|UMLS:C0259810|ORPHA:18|MEDDRA:10045224
MONDO:0015826	autosomal dominant spondylocostal dysostosis	biolink:Disease	mondo	SCTID:716232002|UMLS:C4274761|ICD10:Q76.4|UMLS:CN200437|Orphanet:1797	ordo_malformation_syndrome	autosomal dominant spondylocostal dysplasia|spondylocostal dysostosis, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0015826	Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.	UMLS:C4274761|SNOMEDCT:716232002|UMLS:CN200437|ORPHA:1797
UBERON:0012468	anal tooth	biolink:AnatomicalEntity	mondo			calcified anal papilla|anal teeth|perianal tooth|cloacal tooth	http://purl.obolibrary.org/obo/UBERON_0012468	Triangular calcified papillae (often five) placed radially around the anus of some Holothuriidae	
UBERON:0012467	enclosed anatomical space	biolink:AnatomicalEntity	mondo			closed anatomical space	http://purl.obolibrary.org/obo/UBERON_0012467	An anatomical space with no opening to another space or to the exterior.	
UBERON:0012466	extraembryonic cavity	biolink:AnatomicalEntity	mondo			extraembryonic cavities	http://purl.obolibrary.org/obo/UBERON_0012466		
UBERON:0012465	lumen of terminal part of digestive tract	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0012465	A anatomical space that is enclosed by a terminal part of digestive tract.	
MONDO:0015832	true unicornuate uterus	biolink:Disease	mondo	ICD10:Q51.4|Orphanet:180074	ordo_morphological_anomaly	complete unilateral Mullerian aplasia|complete unilateral aplasia of the Mullerian ducts|unicornuate uterus without rudimentary horn|complete unilateral Müllerian aplasia|complete unilateral aplasia of the Müllerian ducts	http://purl.obolibrary.org/obo/MONDO_0015832	True unicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube with no rudimentary horn. Urinary tract anomalies are frequently associated.	ORPHA:180074
CL:1000312	bronchial goblet cell	biolink:Cell	mondo	FMA:263032		goblet cell of epithelium of bronchus	http://purl.obolibrary.org/obo/CL_1000312	A goblet cell that is part of the epithelium of bronchus.	
MONDO:0015831	unilateral aplasia of the mullerian ducts	biolink:Disease	mondo	ICD10:Q51.4|Orphanet:180071	ordo_group_of_disorders	unicornuate uterus|unilateral aplasia of the Müllerian ducts	http://purl.obolibrary.org/obo/MONDO_0015831		ORPHA:180071
MONDO:0015830	partial bilateral aplasia of the mullerian ducts	biolink:Disease	mondo	Orphanet:180068|ICD10:Q51.8	ordo_group_of_disorders	incomplete bilateral aplasia of the Müllerian ducts|partial bilateral aplasia of the Müllerian ducts|incomplete bilateral aplasia of the Mullerian ducts	http://purl.obolibrary.org/obo/MONDO_0015830		ORPHA:180068
UBERON:0000481	multi-tissue structure	biolink:AnatomicalEntity	mondo			multi-tissue structures	http://purl.obolibrary.org/obo/UBERON_0000481	Anatomical structure that has as its parts two or more portions of tissue of at least two different types and which through specific morphogenetic processes forms a single distinct structural unit demarcated by bona-fide boundaries from other distinct structural units of different types.	
FOODON:03420279	pollen	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03420279		
MONDO:0015836	Bicervical bicornuate uterus with patent cervix and vagina	biolink:Disease	mondo	ICD10:Q51.1|Orphanet:180111	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0015836		ORPHA:180111
MONDO:0015835	Bicervical bicornuate uterus and blind hemivagina	biolink:Disease	mondo	ICD10:Q51.1|Orphanet:180106	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0015835		ORPHA:180106
MONDO:0015834	didelphys uterus	biolink:Disease	mondo	SCTID:15545001|MedDRA:10012770|Orphanet:180086|ICD10:Q51.1|ICD9:752.2	ordo_morphological_anomaly	Bicervical bicornuate uterus	http://purl.obolibrary.org/obo/MONDO_0015834		MEDDRA:10012770|UMLS:C0266393|ORPHA:180086|SNOMEDCT:15545001
MONDO:0015833	pseudounicornuate uterus	biolink:Disease	mondo	Orphanet:180079|ICD10:Q51.4	ordo_morphological_anomaly	incomplete unilateral Mullerian aplasia|unicornuate uterus with rudimentary horn|incomplete unilateral Müllerian aplasia|incomplete unilateral aplasia of the Mullerian ducts|incomplete unilateral aplasia of the Müllerian ducts	http://purl.obolibrary.org/obo/MONDO_0015833	Pseudounicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated.	ORPHA:180079
UBERON:0000486	multilaminar epithelium	biolink:AnatomicalEntity	mondo			stratified epithelium|laminated epithelium	http://purl.obolibrary.org/obo/UBERON_0000486	Epithelium which consists of more than one layer of epithelial cells that may or may not be in contact with a basement membrane. Examples: keratinized stratified squamous epithelium, ciliated stratified columnar epithelium.[FMA]	
UBERON:0000487	simple squamous epithelium	biolink:AnatomicalEntity	mondo			simple squamous epithelia|epithelium simplex squamosum	http://purl.obolibrary.org/obo/UBERON_0000487	Unilaminar epithelium which consists of a single layer of squamous cells. Examples: pulmonary alveolar epithelium, endothelium.[FMA]	
UBERON:0000488	atypical epithelium	biolink:AnatomicalEntity	mondo			heterogenous epithelium|atypical epithelia	http://purl.obolibrary.org/obo/UBERON_0000488	Epithelium that consists of epithelial cells not arranged in one ore more layers.	
UBERON:0000489	cavitated compound organ	biolink:AnatomicalEntity	mondo			cavitated compound organs|cavitated organ	http://purl.obolibrary.org/obo/UBERON_0000489	Compound organ that contains one or more macroscopic anatomical spaces.	
MONDO:0003836	malignant thyroid stimulating hormone producing neoplasm of pituitary gland	biolink:Disease	mondo	UMLS:C1334627|DOID:6274|NCIT:C5965		malignant thyroid stimulating hormone producing neoplasm of the pituitary gland|malignant thyroid stimulating hormone secreting tumor of pituitary|malignant TSH producing tumor of pituitary|malignant thyroid stimulating hormone producing neoplasm of pituitary gland|malignant thyrotropinoma|malignant thyroid stimulating hormone producing pituitary neoplasm|malignant thyroid stimulating hormone producing neoplasm of the pituitary|malignant TSH secreting tumor of the pituitary gland|malignant thyroid stimulating hormone producing pituitary gland tumor|malignant TSH secreting tumor of pituitary gland|malignant thyroid stimulating hormone producing neoplasm of pituitary|malignant thyroid stimulating hormone producing pituitary tumor|malignant thyroid stimulating hormone producing pituitary gland neoplasm|malignant TSH secreting tumor of the pituitary|malignant TSH secreting tumor of pituitary|malignant TSH secreting neoplasm of the pituitary gland|malignant thyroid stimulating hormone producing tumor|malignant thyrotropinoma of the pituitary gland|malignant TSH secreting neoplasm of pituitary gland|malignant TSH producing pituitary neoplasm|malignant thyroid stimulating hormone secreting pituitary neoplasm|malignant TSH secreting neoplasm of the pituitary|malignant thyrotropinoma of pituitary gland|malignant TSH secreting pituitary gland tumor|malignant thyroid stimulating hormone producing tumor of the pituitary gland|malignant TSH secreting neoplasm of pituitary|malignant thyroid stimulating hormone secreting pituitary gland neoplasm|malignant TSH producing pituitary gland neoplasm|malignant thyrotropinoma of the pituitary|malignant thyroid stimulating hormone producing tumor of pituitary gland|TSH-producing pituitary gland carcinoma|malignant TSH secreting pituitary tumor|malignant thyroid stimulating hormone producing tumor of the pituitary|malignant thyrotropinoma of pituitary|malignant thyroid stimulating hormone secreting neoplasm of the pituitary gland|malignant TSH producing neoplasm of the pituitary gland|malignant thyroid stimulating hormone producing tumor of pituitary|malignant pituitary thyrotropinoma|TSH producing pituitary gland carcinoma|malignant TSH secreting pituitary neoplasm|malignant TSH producing neoplasm of pituitary gland|malignant thyroid stimulating hormone secreting neoplasm of pituitary gland|malignant TSH producing neoplasm of the pituitary|malignant TSH producing tumor of the pituitary gland|malignant pituitary gland thyrotropinoma|malignant thyroid stimulating hormone secreting pituitary gland tumor|malignant thyroid stimulating hormone secreting tumor of the pituitary gland|malignant TSH producing pituitary gland tumor|malignant thyroid stimulating hormone secreting neoplasm of the pituitary|malignant thyroid stimulating hormone secreting tumor of pituitary gland|malignant TSH producing tumor of pituitary gland|malignant TSH producing neoplasm of pituitary|malignant thyroid stimulating hormone secreting neoplasm of pituitary|malignant TSH secreting pituitary gland neoplasm|malignant thyroid stimulating hormone secreting tumor of the pituitary|thyrotropin producing pituitary gland carcinoma|malignant TSH producing tumor of the pituitary|malignant TSH producing pituitary tumor|malignant thyroid stimulating hormone secreting pituitary tumor	http://purl.obolibrary.org/obo/MONDO_0003836	A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces thyrotropin.	NCIT:C5965|DOID:6274|UMLS:C1334627
MONDO:0003837	TSH producing pituitary tumor	biolink:Disease	mondo	NCIT:C7915|DOID:6275|SCTID:254959007|UMLS:C2362538		TSH producing neoplasm of the pituitary|thyroid stimulating hormone secreting pituitary gland tumor|thyroid stimulating hormone secreting neoplasm of the pituitary|TSH producing pituitary gland tumor|thyroid stimulating hormone producing tumor of pituitary|TSH producing neoplasm of pituitary|TSH-producing pituitary gland neoplasm|TSH secreting pituitary neoplasm|thyroid stimulating hormone secreting neoplasm of pituitary|TSH producing pituitary tumor|thyroid stimulating hormone secreting tumor of the pituitary gland|TSH secreting tumor of pituitary|TSH producing tumor of the pituitary gland|TSH-oma|thyroid stimulating hormone secreting pituitary tumor|thyroid stimulating hormone secreting tumor of pituitary gland|TSH secreting pituitary gland neoplasm|TSH producing tumor of pituitary gland|thyroid stimulating hormone producing neoplasm of the pituitary gland|thyroid stimulating hormone secreting tumor of the pituitary|TSH producing tumor of the pituitary|thyroid stimulating hormone producing neoplasm of pituitary gland|TSH producing tumor of pituitary|thyroid stimulating hormone producing neoplasm of the pituitary|thyroid stimulating hormone producing pituitary gland tumor|thyroid stimulating hormone secreting tumor of pituitary|thyroid stimulating hormone producing neoplasm of pituitary|thyroid stimulating hormone producing pituitary tumor|thyroid stimulating hormone producing pituitary neoplasm|TSH secreting tumor of the pituitary gland|TSH secreting tumor of pituitary gland|thyroid stimulating hormone producing pituitary gland neoplasm|TSH secreting neoplasm of the pituitary gland|TSH secreting tumor of the pituitary|TSH secreting neoplasm of pituitary gland|TSH secreting adenoma of the pituitary|TSH secreting pituitary gland tumor|TSH secreting neoplasm of the pituitary|thyroid stimulating hormone producing tumour|thyrotropin producing pituitary gland neoplasm|thyrotropin-secreting pituitary adenoma|TSH producing pituitary neoplasm|thyroid stimulating hormone secreting pituitary neoplasm|TSH secreting neoplasm of pituitary|TSH-producing pituitary gland tumor|thyroid stimulating hormone producing tumor of the pituitary gland|TSH secreting pituitary tumor|thyroid stimulating hormone producing tumor of pituitary gland|TSH producing neoplasm of the pituitary gland|TSH producing pituitary gland neoplasm|thyroid stimulating hormone secreting neoplasm of the pituitary gland|thyroid stimulating hormone secreting pituitary gland neoplasm|thyrotroph adenoma|TSH producing neoplasm of pituitary gland|thyroid stimulating hormone producing tumor of the pituitary|thyroid stimulating hormone secreting neoplasm of pituitary gland	http://purl.obolibrary.org/obo/MONDO_0003837	An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces thyrotropin.	NCIT:C7915|SNOMEDCT:254959007|DOID:6275|UMLS:C2362538
UBERON:0000483	epithelium	biolink:AnatomicalEntity	mondo			epithelial tissue|portion of epithelium	http://purl.obolibrary.org/obo/UBERON_0000483	Portion of tissue, that consists of one or more layers of epithelial cells connected to each other by cell junctions and which is underlain by a basal lamina. Examples: simple squamous epithelium, glandular cuboidal epithelium, transitional epithelium, myoepithelium[CARO].	
UBERON:0000484	simple cuboidal epithelium	biolink:AnatomicalEntity	mondo			epithelium simplex cuboideum|simple cuboidal epithelia	http://purl.obolibrary.org/obo/UBERON_0000484	Unilaminar epithelium that consists of a single layer of cuboidal cells.	
MONDO:0003838	obsolete malignant ACTH producing neoplasm of pituitary gland	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003838		
UBERON:0000485	simple columnar epithelium	biolink:AnatomicalEntity	mondo			columnar epithlium|simple columnar epithelium|simple columnar epithelia|epithelium simplex columnare|columnar epithelium	http://purl.obolibrary.org/obo/UBERON_0000485	Unilaminar epithelium, which consists of a single layer of columnar cells. Examples: ciliated columnar epithelium, gastric epithelium, microvillus columnar epithelium.[FMA]	
MONDO:0003839	ovarian mucinous adenocarcinofibroma	biolink:Disease	mondo	DOID:6278|ICDO:9015/3|UMLS:C2212014|NCIT:C40034		ovarian mucinous adenocarcinofibroma|ovarian mucinous malignant adenofibroma	http://purl.obolibrary.org/obo/MONDO_0003839	A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells with intracytoplasmic mucin. Cystic spaces are also present which contain mucoid material.	NCIT:C40034|DOID:6278|UMLS:C2212014
MONDO:0003854	obsolete tibial adamantinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003854		
MONDO:0003855	obsolete immature teratoma of ovary	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003855		
MONDO:0003856	adult malignant hemangiopericytoma	biolink:Disease	mondo	NCIT:C7946|UMLS:C0279547|DOID:6332		hemangiopericytoma, malignant of adults|adult hemangiopericytoma, malignant|malignant adult hemangiopericytoma	http://purl.obolibrary.org/obo/MONDO_0003856	A malignant hemangiopericytoma occurring in the adult population.	DOID:6332|UMLS:C0279547|NCIT:C7946
MONDO:0003857	adult intracranial malignant hemangiopericytoma	biolink:Disease	mondo	NCIT:C9183|UMLS:C1334558|UMLS:C4331858|DOID:6333		malignant adult intracranial hemangiopericytoma|adult intracranial solitary fibrous tumor/hemangiopericytoma, grade 3|adult malignant intracranial hemangiopericytoma|adult intracranial anaplastic hemangiopericytoma|central nervous system solitary fibrous tumor/hemangiopericytoma, grade 3	http://purl.obolibrary.org/obo/MONDO_0003857	A solitary fibrous tumor/hemangiopericytoma, grade 3 that arises from the brain and occurs in the adult population.	UMLS:C1334558|DOID:6333|NCIT:C9183|UMLS:C4331858
MONDO:0003850	clivus chondroid chordoma	biolink:Disease	mondo	UMLS:C1333072|DOID:6313|NCIT:C5426		chondroid chordoma of clivus|clivus of occipital bone chondroid chordoma|chondroid chordoma of the clivus|chondroid chordoma of clivus of occipital bone	http://purl.obolibrary.org/obo/MONDO_0003850	A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, the presence of physaliphorous cells and cartilage.	UMLS:C1333072|DOID:6313|NCIT:C5426
UBERON:0000468	multicellular organism	biolink:AnatomicalEntity	mondo			Koerper|organism|whole body|whole organism|multi-cellular organism|animal|body	http://purl.obolibrary.org/obo/UBERON_0000468	Anatomical structure that is an individual member of a species and consists of more than one cell.	
ExO:0000001	exposure receptor	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ExO_0000001		
MONDO:0003851	ovarian fetiform teratoma	biolink:Disease	mondo	NCIT:C39996|DOID:6314|UMLS:C1518715		homunculus|ovarian fetiform teratoma	http://purl.obolibrary.org/obo/MONDO_0003851	A rare type of teratoma that arises from the ovary and resembles a malformed fetus.	DOID:6314|UMLS:C1518715|NCIT:C39996
ExO:0000002	exposure event	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ExO_0000002		
HGNC:7392	MSX2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7392		
MONDO:0003852	ovarian solid teratoma	biolink:Disease	mondo	NCIT:C7285|DOID:6315|UMLS:C1335181			http://purl.obolibrary.org/obo/MONDO_0003852	A mature teratoma that arises from the ovary and presents as a large solid mass. It contains multiple cysts that vary in size. Small foci of hemorrhage are also present.	DOID:6315|NCIT:C7285|UMLS:C1335181
MONDO:0003853	Bartholin gland adenocarcinoma	biolink:Disease	mondo	NCIT:C7719|DOID:6316|UMLS:C0238016		major vestibular gland adenocarcinoma|adenocarcinoma of the Bartholin's gland|Bartholin gland adenocarcinoma|adenocarcinoma of Bartholin's gland	http://purl.obolibrary.org/obo/MONDO_0003853	A carcinoma that arises from glandular epithelial cells of the major vestibular gland.	UMLS:C0238016|DOID:6316|NCIT:C7719
HGNC:7391	MSX1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7391		
ExO:0000000	exposure stressor	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ExO_0000000		
MONDO:0015818	aggressive primary cutaneous B-cell lymphoma	biolink:Disease	mondo	Orphanet:178554	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015818		ORPHA:178554
MONDO:0015817	aggressive primary cutaneous T-cell lymphoma	biolink:Disease	mondo	Orphanet:178551	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015817		ORPHA:178551
MONDO:0015816	indolent primary cutaneous T-cell lymphoma	biolink:Disease	mondo	Orphanet:178548	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015816		ORPHA:178548
MONDO:0015815	obsolete primary cutaneous diffuse large B-cell lymphoma, leg type	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015815		
CHEBI:60056	cocaine(1+)	biolink:ChemicalSubstance	mondo			cocaine cation|(1R,2R,3S,5S)-3-(benzoyloxy)-2-(methoxycarbonyl)-8-methyl-8-azoniabicyclo[3.2.1]octane|cocaine	http://purl.obolibrary.org/obo/CHEBI_60056	The conjugate base of cocaine arising from protonation of the tertiary amino group; major species at pH 7.3.	
MONDO:0015819	indolent primary cutaneous B-cell lymphoma	biolink:Disease	mondo	Orphanet:178557	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015819		ORPHA:178557
MONDO:0015821	mycosis fungoides and variants	biolink:Disease	mondo	ICD10:C84.0|Orphanet:178566|UMLS:CN226743	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015821	Mycosis fungoides (MF) and its variants represent the most common forms of cutaneous T-cell lymphomas. The term MF is restricted to the classical form characterized by the slow progression of patches, plaques and tumors, and to variants with a similar indolent course.	ORPHA:178566|UMLS:CN226743
CHEBI:37622	carboxamide	biolink:ChemicalSubstance	mondo			carboxamides|carboxamides|primary carboxamide	http://purl.obolibrary.org/obo/CHEBI_37622	An amide of a carboxylic acid, having the structure RC(=O)NR2. The term is used as a suffix in systematic name formation to denote the -C(=O)NH2 group including its carbon atom.	
MONDO:0015820	primary cutaneous B-cell lymphoma	biolink:Disease	mondo	ICD9:202.80|COHD:4294435|Orphanet:178563|SCTID:402881008|UMLS:C1274310	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015820		SNOMEDCT:402881008|UMLS:C1274310|ORPHA:178563
MONDO:0015825	obesity due to congenital leptin resistance	biolink:Disease	mondo	ICD10:E66.8|Orphanet:179490	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015825		ORPHA:179490
MONDO:0015824	oculomaxillofacial dysostosis	biolink:Disease	mondo	GARD:0004046|MESH:C537736|SCTID:763830009|ICD10:Q75.1|UMLS:C1838348|Orphanet:1794	gard_rare|ordo_malformation_syndrome	oblique facial clefts|oculomaxillofacial dysplasia with oblique facial clefts|Richieri Costa Gorlin syndrome|Richieri-Costa-Gorlin syndrome	http://purl.obolibrary.org/obo/MONDO_0015824	Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported.	SNOMEDCT:763830009|ORPHA:1794|MESH:C537736|UMLS:C1838348
MONDO:0015823	primary immunodeficiency due to a defect in adaptive immunity	biolink:Disease	mondo	Orphanet:179006	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015823		ORPHA:179006
MONDO:0015822	acquired neutropenia	biolink:Disease	mondo	Orphanet:178996	ordo_group_of_disorders	immunologic neutropenia|acquired neutropenia	http://purl.obolibrary.org/obo/MONDO_0015822	An instance of neutropenia that is acquired during the lifetime of the individual.	ORPHA:178996
UBERON:0000475	organism subdivision	biolink:AnatomicalEntity	mondo			body region|cardinal body part|anatomic region|body part	http://purl.obolibrary.org/obo/UBERON_0000475	Anatomical structure which is a subdivision of a whole organism, consisting of components of multiple anatomical systems, largely surrounded by a contiguous region of integument.	
UBERON:0000476	acellular anatomical structure	biolink:AnatomicalEntity	mondo			acellular anatomical structures	http://purl.obolibrary.org/obo/UBERON_0000476	Anatomical structure that consists of cell parts and cell substances and together does not constitute a cell or a tissue.	
UBERON:0000477	anatomical cluster	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0000477	Anatomical group that has its parts adjacent to one another.	
UBERON:0000478	extraembryonic structure	biolink:AnatomicalEntity	mondo			extraembryonic tissue|extraembryonic structures|extra-embryonic structure	http://purl.obolibrary.org/obo/UBERON_0000478	A multicellular anatomical structure that is associated with an embryo and derived from the zygote from which it develops, but which does not contribute to the embryo proper or to structures that are part of the same organism after embryogenesis.	
MONDO:0003847	Mendelian disease	biolink:Disease	mondo	NCIT:C3101|EFO:0000508|DOID:630|UMLS:C0019247|SCTID:32895009|MESH:D030342|ICD9:799.89		hereditary disease|genetic disease|inherited genetic disease|hereditary diseases|molecular disease|genetic disorder|genetic condition|hereditary disease or disorder|genetic disorder|inherited disease|inborn disorder|genetic condition|familial disorder	http://purl.obolibrary.org/obo/MONDO_0003847	A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome.	NCIT:C3101|MESH:D030342|DOID:630|UMLS:C0019247|SNOMEDCT:32895009
UBERON:0000471	compound organ component	biolink:AnatomicalEntity	mondo			compound organ components	http://purl.obolibrary.org/obo/UBERON_0000471	Multi-tissue structure that is part of a compound organ.	
CL:0002293	epithelial cell of thymus	biolink:Cell	mondo	CALOHA:TS-1040|FMA:72208		thymic epithelial cell|epithelial cell of thymus gland|epithelial reticular cell|epithelial reticular cell of thymus	http://purl.obolibrary.org/obo/CL_0002293	An epithelial cell of the thymus. Epithelial reticular cells are pleomorphic, stellate, non-phagocytic cells which seem to be supportive in function and are held together by desmosomes. They replace the fibroblastoid reticular cells found in other lymphoid organs. Other epithelial cells in the medulla have the ultrastructure of secretory cells. Although different epithelial cells throughout the thymus appear alike by light microscopy their ultrastructure and function varies.	
MONDO:0003848	ectopic thymus	biolink:Disease	mondo	DOID:6307|UMLS:C1333375|NCIT:C27804		ectopic thymus	http://purl.obolibrary.org/obo/MONDO_0003848	A condition in which the thymus gland is abnomally located; this can be secondary to failure of descent during fetal development, or failure of involution.	NCIT:C27804|UMLS:C1333375|DOID:6307
MONDO:0003849	clivus chordoma	biolink:Disease	mondo	ICD9:170.0|DOID:6312|SCTID:446939001|UMLS:C1333071|NCIT:C5412		chordoma of the clivus|clivus of occipital bone chordoma (disease)|chordoma (disease) of clivus of occipital bone|chordoma of clivus|clival chordoma	http://purl.obolibrary.org/obo/MONDO_0003849	A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells.	NCIT:C5412|UMLS:C1333071|DOID:6312|SNOMEDCT:446939001
UBERON:0000473	testis	biolink:AnatomicalEntity	mondo			gonad of male reproductive system|gonad of male genitalia|orchis|testiculus|testes|male gonad|testicle	http://purl.obolibrary.org/obo/UBERON_0000473	A gonad of a male animal. A gonad produces and releases sperm.	
UBERON:0000474	female reproductive system	biolink:AnatomicalEntity	mondo			female organism genitalia|gynaecological tissue|female genital tract|female reproductive tract|genitalia of female organism|female genitals|reproductive system of female organism|female organism reproductive system|female genital system|systema genitale femininum|female genitalia	http://purl.obolibrary.org/obo/UBERON_0000474	The organs and associated structures associated with bearing offspring in a female animal.	
HGNC:119	ACOX1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/119		
GO:0001775	cell activation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0001775	A change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand.	
GO:0098687	chromosomal region	biolink:OntologyClass	mondo			chromosome region	http://purl.obolibrary.org/obo/GO_0098687	Any subdivision of a chromosome along its length.	
HGNC:118	ACO2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/118		
NCBITaxon:1385	Bacillales	organism taxon	mondo	GC_ID:11		Bacillus/Staphylococcus group	http://purl.obolibrary.org/obo/NCBITaxon_1385		
NCBITaxon:1386	Bacillus <firmicutes>	organism taxon	mondo	PMID:8138135|PMID:8863420|PMID:10843090|PMID:23475340|GC_ID:11|PMID:7727277|PMID:11491334|PMID:1742196|PMID:2223602		Bacillus|Bacillus rRNA group 1	http://purl.obolibrary.org/obo/NCBITaxon_1386		
GO:0001773	myeloid dendritic cell activation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0001773	The change in morphology and behavior of a dendritic cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor.	
GO:0060073	micturition	biolink:OntologyClass	mondo			urine voiding|urination	http://purl.obolibrary.org/obo/GO_0060073	The regulation of body fluids process in which parasympathetic nerves stimulate the bladder wall muscle to contract and expel urine from the body.	
GO:0060078	regulation of postsynaptic membrane potential	biolink:OntologyClass	mondo			regulation of post-synaptic membrane potential	http://purl.obolibrary.org/obo/GO_0060078	Any process that modulates the potential difference across a post-synaptic membrane.	
GO:0060079	excitatory postsynaptic potential	biolink:OntologyClass	mondo			regulation of excitatory post-synaptic membrane potential|regulation of EPSP	http://purl.obolibrary.org/obo/GO_0060079	A process that leads to a temporary increase in postsynaptic potential due to the flow of positively charged ions into the postsynaptic cell. The flow of ions that causes an EPSP is an excitatory postsynaptic current (EPSC) and makes it easier for the neuron to fire an action potential.	
HGNC:9905	RBM8A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9905		
NCBITaxon:1392	Bacillus anthracis	organism taxon	mondo	GC_ID:11|PMID:8123566		anthrax bacterium|Bacteridium anthracis|Bacillus cereus var. anthracis|anthrax	http://purl.obolibrary.org/obo/NCBITaxon_1392		
HGNC:129	ACTA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/129		
HGNC:124	ACP5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/124		
HGNC:123	ACP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/123		
HGNC:120	ACOX2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/120		
HGNC:9912	RBMY1A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9912		
HGNC:9910	RBMX	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9910		
NCBITaxon:72294	Campylobacteraceae	organism taxon	mondo	PMID:29034857|GC_ID:11		Campylobacter group	http://purl.obolibrary.org/obo/NCBITaxon_72294		
NCBITaxon:72293	Helicobacteraceae	organism taxon	mondo	PMID:29034857|GC_ID:11|PMID:16403855		Helicobacter group	http://purl.obolibrary.org/obo/NCBITaxon_72293		
GO:0098662	inorganic cation transmembrane transport	biolink:OntologyClass	mondo			inorganic cation membrane transport|monovalent inorganic cation transport|divalent inorganic cation transport|transmembrane inorganic cation transport	http://purl.obolibrary.org/obo/GO_0098662	A process in which an inorganic cation is transported from one side of a membrane to the other by means of some agent such as a transporter or pore.	
GO:0001755	neural crest cell migration	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0001755	The characteristic movement of cells from the dorsal ridge of the neural tube to a variety of locations in a vertebrate embryo.	
GO:0098660	inorganic ion transmembrane transport	biolink:OntologyClass	mondo			transmembrane inorganic ion transport|inorganic ion membrane transport	http://purl.obolibrary.org/obo/GO_0098660	The process in which an inorganic ion is transported across a membrane.	
GO:0098661	inorganic anion transmembrane transport	biolink:OntologyClass	mondo			inorganic anion membrane transport|transmembrane inorganic anion transport	http://purl.obolibrary.org/obo/GO_0098661	The process in which an inorganic anion is transported across a membrane.	
GO:0060090	molecular adaptor activity	biolink:OntologyClass	mondo			protein complex scaffold activity|binding, bridging|protein-containing complex scaffold activity	http://purl.obolibrary.org/obo/GO_0060090	The binding activity of a molecule that brings together two or more molecules through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way.	
GO:0060097	cytoskeletal rearrangement involved in phagocytosis, engulfment	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060097	The assembly, arrangement, or disassembly of cytoskeletal structures that is involved in the internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis.	
GO:0060099	regulation of phagocytosis, engulfment	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060099	Any process that modulates the frequency, rate or extent of the internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis.	
HP:0009827	Amelia	biolink:PhenotypicFeature	mondo	MSH:D004480|MEDDRA:10001926|SNOMEDCT_US:62588002|UMLS:C0002447	hposlim_core		http://purl.obolibrary.org/obo/HP_0009827	Congenital absence (aplasia) of one or more limbs.	
HGNC:9922	RBP4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9922		
HP:0009826	Limb undergrowth	biolink:PhenotypicFeature	mondo	UMLS:C0239399		Limb undergrowth|limb shortening|Short limbs|Short limb|Hypoplasia involving bones of the extremities	http://purl.obolibrary.org/obo/HP_0009826	Limb shortening because of underdevelopment of one or more bones of the extremities.	
HGNC:9921	RBP3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9921		
GO:0001764	neuron migration	biolink:OntologyClass	mondo			neuron guidance|neuron chemotaxis|neuronal migration	http://purl.obolibrary.org/obo/GO_0001764	The characteristic movement of an immature neuron from germinal zones to specific positions where they will reside as they mature.	
HGNC:105	CNNM4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/105		
ENVO:21001216	ultraviolet radiation	biolink:OntologyClass	mondo			UV radiation	http://purl.obolibrary.org/obo/ENVO_21001216	A radiation process during which electromagnetic waves or their quanta are emitted at wavelengths between 10 nm and 400 nm.	
HGNC:103	CNNM2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/103		
ENVO:21001215	visible spectrum radiation	biolink:OntologyClass	mondo			optical radiation|visible light	http://purl.obolibrary.org/obo/ENVO_21001215	A radiation process during which electromagnetic waves or their quanta are emitted at wavelengths between 380 nm and 760 nm.	
GO:0060084	synaptic transmission involved in micturition	biolink:OntologyClass	mondo			synaptic transmission involved in urination	http://purl.obolibrary.org/obo/GO_0060084	The process of communication from a neuron to a smooth muscle in the bladder that contributes to the expulsion of urine from the body.	
GO:0060089	molecular transducer activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060089	A compound molecular function in which an effector function is controlled by one or more regulatory components.	
HGNC:9936	OPN1LW	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9936		
HP:0009830	Peripheral neuropathy	biolink:PhenotypicFeature	mondo	UMLS:C0031117|SNOMEDCT_US:302226006|SNOMEDCT_US:386033004|UMLS:C0442874|SNOMEDCT_US:42658009|MSH:D010523		Peripheral nerve damage|Neuropathy|Peripheral neuritis	http://purl.obolibrary.org/obo/HP_0009830	Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.	
GO:0098679	obsolete regulation of carbohydrate catabolic process by regulation of transcription from RNA polymerase II promoter	biolink:OntologyClass	mondo			regulation of carbohydrate catabolism by regulation of transcription from RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_0098679	OBSOLETE. A regulation of transcription from RNA polymerase II promoter that results in regulation of carbohydrate catabloism.	
UBERON:0000414	mucous gland	biolink:AnatomicalEntity	mondo			mucus-secreting gland|glandula mucosa|muciparous gland|mucus gland|mucous secreting gland	http://purl.obolibrary.org/obo/UBERON_0000414	A gland in which the principal secretory cells are mucus secreting cells.	
UBERON:0000415	artery wall	biolink:AnatomicalEntity	mondo			wall of artery|arterial wall	http://purl.obolibrary.org/obo/UBERON_0000415	An anatomical wall that is part of an artery [Automatically generated definition].	
HP:0010885	Avascular necrosis	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:72756009|SNOMEDCT_US:398199007|SNOMEDCT_US:240196003|UMLS:C0085660|MSH:D010020|UMLS:C0877326|UMLS:C0520474|UMLS:C0029445		Death of bone due to decreased blood supply|Aseptic necrosis|Bone infarction|Aseptic bone necrosis|Ischemic bone necrosis|Osteonecrosis|Osteochondronecrosis	http://purl.obolibrary.org/obo/HP_0010885	A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply.	
HP:0010884	Acromelia	biolink:PhenotypicFeature	mondo	UMLS:C4023675	hposlim_core		http://purl.obolibrary.org/obo/HP_0010884	Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs.	
HGNC:9944	RDX	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9944		
HGNC:9942	PRPH2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9942		
HGNC:9949	RECQL4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9949		
CHEBI:50691	abortifacient	biolink:ChemicalSubstance	mondo			abortifacient drug|abortifacient agents|abortifacient agent|abortifacient drugs|abortifacients	http://purl.obolibrary.org/obo/CHEBI_50691	A chemical substance that interrupts pregnancy after implantation.	
HP:0009887	Abnormality of hair pigmentation	biolink:PhenotypicFeature	mondo	UMLS:C4024172		Abnormality of hair color|Abnormality of hair pigmentation	http://purl.obolibrary.org/obo/HP_0009887	An abnormality of hair pigmentation (color).	
UBERON:0000423	eccrine sweat gland	biolink:AnatomicalEntity	mondo			merocrine sweat gland|glandula sudorifera eccrina|glandula sudorifera merocrina|eccrine gland	http://purl.obolibrary.org/obo/UBERON_0000423	A merocrine, unbranched, unbranched, coiled, tubular gland sweat gland. In humans, distributed over almost all of the body surface, and promote cooling by evaporation of their secretion.	
HGNC:9940	RDH5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9940		
UBERON:0000409	serous gland	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0000409	A gland in which the principal secretory cells are serous secreting cells.	
UBERON:0000402	nasal vestibule	biolink:AnatomicalEntity	mondo			vestibulum nasale|vestibulum nasi|vestibular part of nasal cavity	http://purl.obolibrary.org/obo/UBERON_0000402	The nasal vestibule is the most anterior part of the nasal cavity. It's enclosed by the cartilages of nose and lined by the same epithelium of the skin. The other part of the nasal cavity, which is lined by the respiratory epithelium, is called nasal cavity proper. [WP,unvetted].	
UBERON:0000403	scalp	biolink:AnatomicalEntity	mondo			scalpus	http://purl.obolibrary.org/obo/UBERON_0000403	The outer covering of the calvaria. It is composed of several layers: SKIN; subcutaneous connective tissue; the occipitofrontal muscle which includes the tendonous galea aponeurotica; Loose connective tissue; and the pericranium (the PERIOSTEUM of the SKULL).	
CHEBI:50689	reproductive control drug	biolink:ChemicalSubstance	mondo			reproductive control agent|reproductive control drugs	http://purl.obolibrary.org/obo/CHEBI_50689	A substance used either in the prevention or facilitation of pregnancy.	
HP:0010876	Abnormal circulating protein level	biolink:PhenotypicFeature	mondo	UMLS:C4020764|UMLS:C4023679|UMLS:C4020763		Serum protein abnormality|Blood protein disease|Abnormality of circulating protein level	http://purl.obolibrary.org/obo/HP_0010876	An abnormal level of a circulating protein in the blood.	
HGNC:9957	RELN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9957		
HGNC:9958	REN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9958		
CHEBI:50680	methotrexate(1-)	biolink:ChemicalSubstance	mondo			(2S)-4-carboxy-2-(4-{[(2,4-diaminopteridin-6-yl)methyl](methyl)amino}benzamido)butanoate	http://purl.obolibrary.org/obo/CHEBI_50680		
UBERON:0000410	bronchial mucosa	biolink:AnatomicalEntity	mondo			bronchial trunk mucosa|mucosa of bronchus|tunica mucosa bronchi|bronchi mucosa|bronchial trunk organ mucosa|mucous membrane of bronchus|organ mucosa of bronchus|bronchi organ mucosa|mucous membrane of bronchi|bronchi mucosa of organ|organ mucosa of bronchi|organ mucosa of bronchial trunk|mucosa of bronchi|bronchial trunk mucosa of organ|mucous membrane of bronchial trunk|mucosa of bronchial trunk|bronchus mucosa of organ|mucosa of organ of bronchi|bronchi mucous membrane|bronchial trunk mucous membrane|mucosa of organ of bronchial trunk|bronchus mucous membrane|mucosa of organ of bronchus|bronchus mucosa|bronchus organ mucosa	http://purl.obolibrary.org/obo/UBERON_0000410	A mucosa that is part of a bronchus [Automatically generated definition].	
UBERON:0000411	visual cortex	biolink:AnatomicalEntity	mondo			higher-order visual cortex|visual areas	http://purl.obolibrary.org/obo/UBERON_0000411	the part of the cerebral cortex responsible for processing visual information.	
CHEBI:50683	EC 1.5.1.3 (dihydrofolate reductase) inhibitor	biolink:ChemicalSubstance	mondo			dihydrofolate reductase inhibitor|EC 1.5.1.3 (dihydrofolate reductase) inhibitors|dihydrofolate reductase inhibitors|dihydrofolic acid reductase inhibitors|folic reductase inhibitors|NADPH-dihydrofolate reductase inhibitor|dihydrofolate reductase (EC 1.5.1.3) inhibitors|EC 1.5.1.3 inhibitors|folic acid reductase inhibitors|7,8-dihydrofolate reductase inhibitors|dihydrofolic reductase inhibitor|tetrahydrofolate dehydrogenase inhibitors|DHFR inhibitor|tetrahydrofolate dehydrogenase inhibitor|dihydrofolic reductase inhibitors|DHFR inhibitors|folic acid reductase inhibitor|7,8-dihydrofolate reductase inhibitor|EC 1.5.1.3 inhibitor|folic reductase inhibitor|NADPH-dihydrofolate reductase inhibitors|dihydrofolate reductase (EC 1.5.1.3) inhibitor|dihydrofolic acid reductase inhibitor	http://purl.obolibrary.org/obo/CHEBI_50683	An EC 1.5.1.* (oxidoreductase acting on donor CH-NH group, NAD(+) or NADP(+) as acceptor) inhibitor that interferes with the action of dihydrofolate reductase (EC 1.5.1.3).	
CHEBI:50681	methotrexate(2-)	biolink:ChemicalSubstance	mondo			methotrexate|(2S)-2-(4-{[(2,4-diaminopteridin-6-yl)methyl](methyl)amino}benzamido)pentanedioate	http://purl.obolibrary.org/obo/CHEBI_50681		
HGNC:9966	REST	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9966		
HGNC:9967	RET	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9967		
HGNC:9965	RERE	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9965		
HP:0010866	Abdominal wall defect	biolink:PhenotypicFeature	mondo	UMLS:C0238577		Abdominal wall defect|Congenital anterior abdominal wall defect	http://purl.obolibrary.org/obo/HP_0010866	An incomplete closure of the abdominal wall.	
HP:0010864	Intellectual disability, severe	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:40700009|UMLS:C0036857		Severe mental retardation|Mental retardation, severe|Intellectual disability, severe|Early and severe mental retardation	http://purl.obolibrary.org/obo/HP_0010864	Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.	
UBERON:0000400	jejunal epithelium	biolink:AnatomicalEntity	mondo			epithelium of jejunum	http://purl.obolibrary.org/obo/UBERON_0000400	An epithelium that is part of a jejunum.	
HGNC:7316	MS4A2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7316		
HGNC:7315	MS4A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7315		
NCBITaxon:72274	Pseudomonadales	organism taxon	mondo	GC_ID:11		Pseudomonaceae/Moraxellaceae group|gamma-3 proteobacteria	http://purl.obolibrary.org/obo/NCBITaxon_72274		
NCBITaxon:72273	Thiotrichales	organism taxon	mondo	PMID:16280474|GC_ID:11		Thiothrix/Francisella group|Thiomicrospira group	http://purl.obolibrary.org/obo/NCBITaxon_72273		
GO:0050664	oxidoreductase activity, acting on NAD(P)H, oxygen as acceptor	biolink:OntologyClass	mondo			oxidoreductase activity, acting on NADH or NADPH, oxygen as acceptor	http://purl.obolibrary.org/obo/GO_0050664	Catalysis of an oxidation-reduction (redox) reaction in which NADH or NADPH acts as a hydrogen or electron donor and reduces an oxygen molecule.	
GO:0050668	positive regulation of homocysteine metabolic process	biolink:OntologyClass	mondo			upregulation of homocysteine metabolic process|positive regulation of Hcy metabolic process|stimulation of homocysteine metabolic process|up regulation of homocysteine metabolic process|positive regulation of Hcy metabolism|positive regulation of homocysteine metabolism|activation of homocysteine metabolic process|up-regulation of homocysteine metabolic process	http://purl.obolibrary.org/obo/GO_0050668	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving homocysteine.	
GO:0050669	negative regulation of homocysteine metabolic process	biolink:OntologyClass	mondo			negative regulation of homocysteine metabolism|down regulation of homocysteine metabolic process|inhibition of homocysteine metabolic process|down-regulation of homocysteine metabolic process|negative regulation of Hcy metabolism|negative regulation of Hcy metabolic process|downregulation of homocysteine metabolic process	http://purl.obolibrary.org/obo/GO_0050669	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving homocysteine.	
GO:0050666	regulation of homocysteine metabolic process	biolink:OntologyClass	mondo			regulation of Hcy metabolic process|regulation of Hcy metabolism|regulation of homocysteine metabolism	http://purl.obolibrary.org/obo/GO_0050666	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving homocysteine, the amino acid alpha-amino-gamma-mercaptobutanoic acid.	
GO:0050667	homocysteine metabolic process	biolink:OntologyClass	mondo			homocysteine metabolism|Hcy metabolism|Hcy metabolic process	http://purl.obolibrary.org/obo/GO_0050667	The chemical reactions and pathways involving homocysteine, the amino acid alpha-amino-gamma-mercaptobutanoic acid. Homocysteine is an important intermediate in the metabolic reactions of its S-methyl derivative, methionine.	
MONDO:0025293	poult enteritis mortality syndrome	biolink:Disease	mondo	MESH:D031261|UMLS:C1135821		spiking mortality syndrome|mortality syndrome, spiking	http://purl.obolibrary.org/obo/MONDO_0025293	An acute, transmissible, infectious disease associated with high mortality and morbidity in young turkeys (poults). It is characterized by diarrhea; anorexia; growth depression, and immune dysfunction. The cause is unknown but astroviruses (avastrovirus) and coronaviruses (coronavirus, turkey) have been isolated from diseased poults and are thought to cause the enteritis and increased susceptibility to bacterial infections.	MESH:D031261|UMLS:C1135821
MONDO:0025294	tick-borne infectious disease	biolink:Disease	mondo	MESH:D017282		infections, Tick-borne|Tick-borne infection|Tick borne diseases|infections, Tick borne|disease, Tick-borne|Tick-borne disease|diseases, Tick-borne|Tick borne infections|Tick-borne infections|infection, Tick-borne	http://purl.obolibrary.org/obo/MONDO_0025294	Bacterial, viral, or parasitic diseases transmitted to humans and animals by the bite of infected ticks. The families Ixodidae and Argasidae contain many bloodsucking species that are important pests of man and domestic birds and mammals and probably exceed all other arthropods in the number and variety of disease agents they transmit. Many of the tick-borne diseases are zoonotic.	MESH:D017282
HGNC:195	ADAM17	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/195		
CL:0002303	pigmented ciliary epithelial cell	biolink:Cell	mondo	FMA:70606		PE	http://purl.obolibrary.org/obo/CL_0002303	A ciliated epithelial cell of the retina, this cell type uptakes sodium chloride and passes it to non-pigmented ciliary epithelial cells.	
GO:0098609	cell-cell adhesion	biolink:OntologyClass	mondo			single organismal cell-cell adhesion	http://purl.obolibrary.org/obo/GO_0098609	The attachment of one cell to another cell via adhesion molecules.	
GO:0050673	epithelial cell proliferation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0050673	The multiplication or reproduction of epithelial cells, resulting in the expansion of a cell population. Epithelial cells make up the epithelium, the covering of internal and external surfaces of the body, including the lining of vessels and other small cavities. It consists of cells joined by small amounts of cementing substances.	
GO:0023035	CD40 signaling pathway	biolink:OntologyClass	mondo			CD40 signalling pathway	http://purl.obolibrary.org/obo/GO_0023035	A series of molecular signals initiated by the binding of the cell surface receptor CD40 to one of its physiological ligands, and ending with regulation of a downstream cellular process, e.g. transcription.	
GO:0050679	positive regulation of epithelial cell proliferation	biolink:OntologyClass	mondo			up-regulation of epithelial cell proliferation|up regulation of epithelial cell proliferation|activation of epithelial cell proliferation|stimulation of epithelial cell proliferation|upregulation of epithelial cell proliferation	http://purl.obolibrary.org/obo/GO_0050679	Any process that activates or increases the rate or extent of epithelial cell proliferation.	
GO:0050678	regulation of epithelial cell proliferation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0050678	Any process that modulates the frequency, rate or extent of epithelial cell proliferation.	
CL:0002319	neural cell	biolink:Cell	mondo	FMA:70333|CALOHA:TS-2040			http://purl.obolibrary.org/obo/CL_0002319	A cell that is part of the nervous system.	
CL:0002312	somatotroph	biolink:Cell	mondo	FMA:83095		somatrophic cell|somatotropic cell|somatotrope	http://purl.obolibrary.org/obo/CL_0002312	An acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin.	
MONDO:0013290	agammaglobulinemia 5, autosomal dominant	biolink:Disease	mondo	UMLS:C3150753|OMIM:613506|DOID:0080588		agammaglobulinemia, autosomal dominant, due to Lrrc8A defect|agammaglobulinemia 5, autosomal dominant; AGM5|autosomal agammaglobulinemia caused by mutation in LRRC8A|AGM5|LRRC8A autosomal agammaglobulinemia|agammaglobulinemia 5, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0013290	Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the LRRC8A gene.	DOID:0080588|UMLS:C3150753|http://identifiers.org/omim/613506
MONDO:0025271	trypanosomiasis, bovine	biolink:Disease	mondo	UMLS:C0041230|MESH:D014354		bovine Trypanosomiases|bovine trypanosomiasis|Trypanosomiases, bovine	http://purl.obolibrary.org/obo/MONDO_0025271	Infection in cattle caused by various species of trypanosomes.	MESH:D014354|UMLS:C0041230
HGNC:177	ACY1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/177		
MONDO:0025270	toxoplasmosis, non-human animal	biolink:Disease	mondo	MESH:D014124|UMLS:C0040559		animal Toxoplasmoses|animal toxoplasmosis|Toxoplasmoses, animal	http://purl.obolibrary.org/obo/MONDO_0025270	Acquired infection of non-human animals by organisms of the genus toxoplasma.	UMLS:C0040559|MESH:D014124
HGNC:175	ACVRL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/175		
HGNC:174	ACVR2B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/174		
HGNC:171	ACVR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/171		
MONDO:0013299	chromosome 6q11-q14 deletion syndrome	biolink:Disease	mondo	OMIM:613544|DOID:0060423|UMLS:C3150790		chromosome 6q11-q14 deletion syndrome|chromosome 6Q13-q14 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0013299		http://identifiers.org/omim/613544|UMLS:C3150790|DOID:0060423
MONDO:0013293	isolated microphthalmia 6	biolink:Disease	mondo	UMLS:C3150757|OMIM:613517|ICD10:Q11.0|DOID:0060835		microphthalmia, isolated type 6|microphthalmia, posterior nonsyndromic|MCOP6|PRSS56 isolated microphthalmia|microphthalmia, isolated 6; MCOP6|posterior nonsyndromic microphthalmia|isolated microphthalmia type 6|isolated microphthalmia caused by mutation in PRSS56|microphthalmia, isolated 6	http://purl.obolibrary.org/obo/MONDO_0013293	Any isolated microphthalmia in which the cause of the disease is a mutation in the PRSS56 gene.	http://identifiers.org/omim/613517|UMLS:C3150757|DOID:0060835
MONDO:0013294	atopic dermatitis 8	biolink:Disease	mondo	UMLS:C3150763|DOID:0110104|OMIM:613518		dermatitis, Atopic, severity of|atopic dermatitis type 8|dermatitis, ATOPIC, 8; ATOD8|ATOD8|dermatitis, ATOPIC, 8	http://purl.obolibrary.org/obo/MONDO_0013294	An atopic dermatitis associated with variation in the region 4q22.1.	http://identifiers.org/omim/613518|DOID:0110104|UMLS:C3150763
MONDO:0013291	glycogen storage disease XV	biolink:Disease	mondo	DOID:0050579|Orphanet:263297|OMIM:613507|UMLS:C3150754|SCTID:717821004|ICD10:E74.0	ordo_disease	glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency|glycogen storage disease XV; GSD15|glycogenosis type XV|GSD type 15|Gyg1 deficiency|glycogen storage disease 15|GSD 15|glycogenosis with severe cardiomyopathy due to glycogenin deficiency|GSD15|GSD type XV|glycogen storage disease XV|GSD with severe cardiomyopathy due to glycogenin deficiency|glycogen storage disease type 15|glycogenosis type 15|glycogenin deficiency|glycogen storage disease type XV	http://purl.obolibrary.org/obo/MONDO_0013291	Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.	SNOMEDCT:717821004|DOID:0050579|UMLS:C3150754|ORPHA:263297|http://identifiers.org/omim/613507
MONDO:0013292	chromosome 4q21 deletion syndrome	biolink:Disease	mondo	UMLS:C4304530|DOID:0060420|OMIM:613509|UMLS:C3150756|Orphanet:238750|ICD10:Q93.5|SCTID:719660008	ordo_malformation_syndrome	Del(4)(q21)|monosomy 4q21|4q21 microdeletion syndrome|chromosome 4q21 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0013292	The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.	UMLS:C4304530|ORPHA:238750|UMLS:C3150756|DOID:0060420|http://identifiers.org/omim/613509|SNOMEDCT:719660008
MONDO:0013297	autosomal dominant limb-girdle muscular dystrophy type 1H	biolink:Disease	mondo	OMIM:613530|Orphanet:238755|DOID:0110303|GARD:0012532|ICD10:G71.0|UMLS:C3150786	ordo_disease	LGMD1H|muscular dystrophy limb-girdle type 1H|muscular dystrophy, limb-girdle, type 1H; LGMD1H|limb-girdle muscular dystrophy type 1H|muscular dystrophy, limb-girdle, type 1H	http://purl.obolibrary.org/obo/MONDO_0013297	Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle.	http://identifiers.org/omim/613530|ORPHA:238755|UMLS:C3150786|DOID:0110303
MONDO:0013298	chromosome 17q21.31 duplication syndrome	biolink:Disease	mondo	UMLS:C3150787|DOID:0060434|ICD10:Q92.3|Orphanet:217340|SCTID:716683005|UMLS:C4274345|OMIM:613533	ordo_malformation_syndrome	chromosome 17q21.31 duplication syndrome|17q21.31 microduplication syndrome|dup(17)(q21.31)|trisomy 17q21.31	http://purl.obolibrary.org/obo/MONDO_0013298	The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent.	UMLS:C4274345|SNOMEDCT:716683005|http://identifiers.org/omim/613533|UMLS:C3150787|DOID:0060434|ORPHA:217340
MONDO:0013295	atopic dermatitis 9	biolink:Disease	mondo	DOID:0110105|UMLS:C3150764|OMIM:613519		atopic dermatitis type 9|dermatitis, ATOPIC, 9; ATOD9|ATOD9|dermatitis, ATOPIC, 9	http://purl.obolibrary.org/obo/MONDO_0013295	An atopic dermatitis associated with variation in the region 3p24.	http://identifiers.org/omim/613519|DOID:0110105|UMLS:C3150764
GO:0050680	negative regulation of epithelial cell proliferation	biolink:OntologyClass	mondo			down-regulation of epithelial cell proliferation|down regulation of epithelial cell proliferation|downregulation of epithelial cell proliferation|inhibition of epithelial cell proliferation	http://purl.obolibrary.org/obo/GO_0050680	Any process that stops, prevents or reduces the rate or extent of epithelial cell proliferation.	
MONDO:0013296	myeloid neoplasm associated with FGFR1 rearrangement	biolink:Disease	mondo	UMLS:C3150773|ONCOTREE:MLNFGFR1|ICDO:9967/3|ICD10:D47.1|Orphanet:168953|UMLS:C2827362|NCIT:C84277|OMIM:613523	ordo_disease	8p11 stem cell syndrome|8p11 stem cell lymphoma/leukemia syndrome|myeloid/lymphoid neoplasms with FGFR1 rearrangement|myeloid/lymphoid neoplasm associated with FGFR1 rearrangement|stem cell leukemia/lymphoma|myeloid/lymphoid neoplasms with FGFR1 rearrangement|8p11 stem cell leukemia/lymphoma syndrome|8p11 myeloproliferative syndrome|chromosome 8p11 myeloproliferative syndrome|myeloid and lymphoid neoplasms with FGFR1 rearrangement	http://purl.obolibrary.org/obo/MONDO_0013296	Hematologic neoplasms characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. Patients present with a myeloproliferative neoplasm, acute myeloid leukemia, lymphoblastic lymphoma/leukemia of T or B-cell lineage, or acute leukemia of mixed phenotype.	http://identifiers.org/omim/613523|UMLS:C2827362|UMLS:C3150773|NCIT:C84277|ORPHA:168953
GO:0047045	testosterone 17-beta-dehydrogenase (NADP+) activity	biolink:OntologyClass	mondo			testosterone 17beta-dehydrogenase (NADP+)|17beta-hydroxysteroid:NADP+ 17-oxidoreductase activity|NADP-dependent testosterone-17beta-oxidoreductase activity|17-ketoreductase activity	http://purl.obolibrary.org/obo/GO_0047045	Catalysis of the reaction: NADP+ + testosterone = NADPH + H+ + androst-4-ene-3,17-dione.	
HGNC:188	ADAM10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/188		
HGNC:186	ADA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/186		
MONDO:0025263	strongyle infections, equine	biolink:Disease	mondo	UMLS:C0038459|MESH:D013319		strongyle infection, equine|infection, equine strongyle|Strongyloses, equine|infections, equine strongyle|equine Strongyloses|equine strongyle infection|Strongylosis, equine|equine Strongylosis|equine strongyle infections	http://purl.obolibrary.org/obo/MONDO_0025263	Infection of horses with parasitic nematodes of the superfamily strongyloidea. Characteristics include the development of hemorrhagic nodules on the abdominal peritoneum.	MESH:D013319|UMLS:C0038459
MONDO:0013288	agammaglobulinemia 3, autosomal recessive	biolink:Disease	mondo	UMLS:C3150751|OMIM:613501		agammaglobulinemia 3, autosomal recessive; AGM3|agammaglobulinemia 3, autosomal recessive|AGM3|autosomal agammaglobulinemia caused by mutation in CD79A|agammaglobulinemia, autosomal recessive, due to Cd79A defect|CD79A autosomal agammaglobulinemia	http://purl.obolibrary.org/obo/MONDO_0013288	Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79A gene.	http://identifiers.org/omim/613501|UMLS:C3150751
GO:0060004	reflex	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060004	An automatic response to a stimulus beginning with a nerve impulse from a receptor and ending with the action of an effector such as a gland or a muscle. Signaling never reaches a level of consciousness.	
MONDO:0013289	agammaglobulinemia 4, autosomal recessive	biolink:Disease	mondo	UMLS:C3150752|OMIM:613502		agammaglobulinemia 4, autosomal recessive; AGM4|AGM4|agammaglobulinemia 4, autosomal recessive|BLNK autosomal agammaglobulinemia|autosomal agammaglobulinemia caused by mutation in BLNK|agammaglobulinemia, autosomal recessive, due to Blnk defect	http://purl.obolibrary.org/obo/MONDO_0013289	Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the BLNK gene.	http://identifiers.org/omim/613502|UMLS:C3150752
MONDO:0013282	alpha 1-antitrypsin deficiency	biolink:Disease	mondo	COHD:192275|DOID:13372|UMLS:C0221757|MedDRA:10001806|SCTID:30188007|OMIM:613490|ICD10:E88.0|NCIT:C84397|ICD10:E88.01|Orphanet:60|GARD:0005784|MESH:D019896|ICD9:273.4	gard_rare|ordo_disease	AATD|alpha-1-antitrypsin deficiency|Alpha-1 antitrypsin deficiency|A1AT deficiency|A-1ATD|A1ATD|AAT deficiency|ALPHA-1-antitrypsin deficiency; A1ATD|A1AD|deficiency in Alpa-1-proteinase inhibitor|Alpha 1 antitrypsin deficiency	http://purl.obolibrary.org/obo/MONDO_0013282	Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis.	MESH:C531610|http://identifiers.org/omim/613490|DOID:13372|UMLS:C0221757|MESH:D019896|NCIT:C84397|ORPHA:60|SNOMEDCT:30188007|MEDDRA:10001806
MONDO:0013283	immunodeficiency, common variable, 3	biolink:Disease	mondo	UMLS:C3150738|OMIM:613493		CVID3|immunodeficiency, common variable, type 3|antibody deficiency due to CD19 defect|immunodeficiency, common variable, 3; CVID3|immunodeficiency, common variable, 3	http://purl.obolibrary.org/obo/MONDO_0013283		http://identifiers.org/omim/613493|UMLS:C3150738
GO:0023019	signal transduction involved in regulation of gene expression	biolink:OntologyClass	mondo			regulation of gene expression as a consequence of signal transmission	http://purl.obolibrary.org/obo/GO_0023019	Any process that modulates the frequency, rate or extent of gene expression as a consequence of a process in which a signal is released and/or conveyed from one location to another.	
MONDO:0013280	myxoid liposarcoma	biolink:Disease	mondo	OMIM:613488|NCIT:C27781|SCTID:404069006|DOID:5709|GARD:0007157|MESH:D018208|EFO:0000613|ICD9:171.9|ICDO:8852/3|DOID:5363		Myxoliposarcoma|mixed-type liposarcoma|myxoid liposarcoma (morphologic abnormality)|myxoid/round cell liposarcoma|myxoid liposarcoma	http://purl.obolibrary.org/obo/MONDO_0013280	A liposarcoma characterized by the presence of round non-lipogenic primitive mesenchymal cells and small signet ring lipoblasts within a myxoid stoma with a branching vascular pattern. This category includes hypercellular lesions with round cell morphology, formerly known as round cell liposarcoma.	http://identifiers.org/omim/613488|DOID:5363|SNOMEDCT:404069006|DOID:5709|MESH:D018208|NCIT:C27781
MONDO:0013281	COG4-CDG	biolink:Disease	mondo	OMIM:613489|Orphanet:263501|ICD10:E77.8|GARD:0012412|DOID:0070262|SCTID:718751000|UMLS:C3150736	ordo_disease	congenital disorder of glycosylation, type IIj|congenital disorder of glycosylation type IIj|CDG2J|CDG syndrome type IIj|congenital disorder of glycosylation type 2j|congenital disorder of glycosylation, type IIj; CDG2J|carbohydrate deficient glycoprotein syndrome type IIj|CDG-IIj|CDG IIj|COG4-CDG (CDG-IIj)	http://purl.obolibrary.org/obo/MONDO_0013281	COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.	http://identifiers.org/omim/613489|UMLS:C3150736|ORPHA:263501|DOID:0070262|SNOMEDCT:718751000
MONDO:0013286	immunodeficiency, common variable, 6	biolink:Disease	mondo	OMIM:613496|UMLS:C3150741		CD81 common variable immunodeficiency|immunodeficiency, common variable, 6|antibody deficiency due to CD81 defect|immunodeficiency, common variable, 6; CVID6|immunodeficiency, common variable, type 6|common variable immunodeficiency caused by mutation in CD81|CVID6	http://purl.obolibrary.org/obo/MONDO_0013286	Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene.	http://identifiers.org/omim/613496|UMLS:C3150741
MONDO:0013287	agammaglobulinemia 2, autosomal recessive	biolink:Disease	mondo	UMLS:C3150750|OMIM:613500|DOID:0060024		agammaglobulinemia 2, autosomal recessive|AGM2|IGLL1 autosomal agammaglobulinemia|lambda 5 deficiency|agammaglobulinemia, autosomal recessive, due to IGLL1 defect|agammaglobulinemia 2, autosomal recessive; AGM2|autosomal agammaglobulinemia caused by mutation in IGLL1	http://purl.obolibrary.org/obo/MONDO_0013287	Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the IGLL1 gene.	http://identifiers.org/omim/613500|UMLS:C3150750|DOID:0060024
MONDO:0013284	immunodeficiency, common variable, 4	biolink:Disease	mondo	UMLS:C3150739|OMIM:613494		immunodeficiency, common variable, 4; CVID4|immunodeficiency, common variable, 4|immunodeficiency, common variable, type 4|antibody deficiency due to Baffr defect|CVID4	http://purl.obolibrary.org/obo/MONDO_0013284		http://identifiers.org/omim/613494|UMLS:C3150739
MONDO:0013285	immunodeficiency, common variable, 5	biolink:Disease	mondo	OMIM:613495|UMLS:C3150740		immunodeficiency, common variable, 5|immunodeficiency, common variable, 5; CVID5|MS4A1 common variable immunodeficiency|antibody deficiency due to CD20 defect|immunodeficiency, common variable, type 5|common variable immunodeficiency caused by mutation in MS4A1|CVID5	http://purl.obolibrary.org/obo/MONDO_0013285	Any common variable immunodeficiency in which the cause of the disease is a mutation in the MS4A1 gene.	http://identifiers.org/omim/613495|UMLS:C3150740
ENVO:01000996	human-directed construction process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000996	An process during which natural or manufactured materials and products are processed and arranged by humans or their technology into structures.	
MONDO:0049223	osteogenesis imperfecta, type 19	biolink:Disease	mondo	UMLS:CN252653|OMIM:301014		OI19|osteogenesis imperfecta, type XIX; OI19	http://purl.obolibrary.org/obo/MONDO_0049223		http://identifiers.org/omim/301014|UMLS:CN252653
ENVO:01000997	environmental system determined by a quality	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000997	An environmental system which is determined by materials bearing roughly homogeneous qualities.	
GO:0098643	banded collagen fibril	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0098643	A supramolecular assembly of fibrillar collagen complexes in the form of a long fiber (fibril) with transverse striations (bands).	
MONDO:0049222	intellectual disability, x-linked 107	biolink:Disease	mondo	OMIM:301013		intellectual disability, X-linked 107; MRX107|MRX107|mental retardation, X-linked 107; MRX107	http://purl.obolibrary.org/obo/MONDO_0049222		http://identifiers.org/omim/301013
ENVO:01000998	environmental system determined by a material	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000998	An environmental system within which an environmental material strongly influences the system's composition and properties.	
MONDO:0049221	myopia 26, X-linked, female-limited	biolink:Disease	mondo	OMIM:301010|UMLS:C4538795		MYP26|myopia 26, X-linked, female-limited; MYP26	http://purl.obolibrary.org/obo/MONDO_0049221		UMLS:C4538795|http://identifiers.org/omim/301010
ENVO:01000993	manufacturing process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000993	A planned process during which raw or recycled materials are transformed into products for use or sale using labour and machines, tools, chemical and biological processing, or formulation.	
NCBITaxon:11308	Orthomyxoviridae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_11308		
HP:0009804	Reduced number of teeth	biolink:PhenotypicFeature	mondo	UMLS:C4024202|UMLS:C4083050		Reduced number of teeth|Missing some teeth|Failure of development of some teeth|Fewer teeth than normal|Decreased tooth count|Tooth agenesis|Decreased number of teeth	http://purl.obolibrary.org/obo/HP_0009804	The presence of a reduced number of teeth as in Hypodontia or as in Anodontia.	
GO:0060037	pharyngeal system development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060037	The process whose specific outcome is the progression of the pharyngeal system over time, from its formation to the mature structure. The pharyngeal system is a transient embryonic complex that is specific to vertebrates. It comprises the pharyngeal arches, bulges of tissues of mesoderm and neural crest derivation through which pass nerves and pharyngeal arch arteries. The arches are separated internally by pharyngeal pouches, evaginations of foregut endoderm, and externally by pharyngeal clefts, invaginations of surface ectoderm. The development of the system ends when the stucture it contributes to are forming: the thymus, thyroid, parathyroids, maxilla, mandible, aortic arch, cardiac outflow tract, external and middle ear.	
GO:0098647	collagen beaded filament	biolink:OntologyClass	mondo			beads on a string	http://purl.obolibrary.org/obo/GO_0098647	A supramolecular assembly of collagen trimers with a 'beads on a string'-like structure.	
HGNC:12298	TRH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12298		
GO:0098644	complex of collagen trimers	biolink:OntologyClass	mondo			Supramolecular aggregate of collagen|Supramolecular collagen assembly	http://purl.obolibrary.org/obo/GO_0098644	A complex of collagen trimers such as a fibril or collagen network.	
GO:0098651	basement membrane collagen trimer	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0098651	Any collagen timer that is part of a basement membrane.	
ENVO:01000981	mass liquid flow	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000981	A process whereby a volume of liquid moves due to a disequilibrium of physical forces.	
ENVO:01000982	water flow process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000982	A process during which a volume of water is transported due to a disequilibria in physical forces.	
ENVO:01000983	technosphere	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000983	A part of an astronomical body which includes, as parts, all the entities which have been constructed or manufactured by humans or their technology and which are within the gravitational sphere of influence of that body.	
HGNC:166	ACTN4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/166		
HGNC:164	ACTN2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/164		
HGNC:163	ACTN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/163		
HP:0009815	Aplasia/hypoplasia of the extremities	biolink:PhenotypicFeature	mondo	UMLS:C0239399		Absent/underdeveloped extremities|Shortened limbs|Short or absent limbs|Absent/small extremities	http://purl.obolibrary.org/obo/HP_0009815	Absence (due to failure to form) or underdevelopment of the extremities.	
MONDO:0037250	childhood testicular neoplasm	biolink:Disease	mondo	NCIT:C5053		pediatric neoplasm of testis|childhood neoplasm of testis|childhood neoplasm of the testis|pediatric testicular neoplasm|neoplasm of testis of childhood|testicular tumor, childhood|pediatric neoplasm of the testis|childhood testicular neoplasm|pediatric neoplasm of testis	http://purl.obolibrary.org/obo/MONDO_0037250	A neoplasm that arises from the testis during childhood.	NCIT:C5053
HP:0009810	Abnormality of upper limb joint	biolink:PhenotypicFeature	mondo	UMLS:C4021387		Abnormality of upper limb joint|Abnormality of the joints of the upper limbs	http://purl.obolibrary.org/obo/HP_0009810		
MONDO:0037251	congestive splenomegaly	biolink:Disease	mondo	SCTID:19058002		congestive splenomegaly|fibrocongestive splenomegaly|banti's spleen|banti syndrome	http://purl.obolibrary.org/obo/MONDO_0037251		SNOMEDCT:19058002
MONDO:0037252	thecoma	biolink:Disease	mondo	MESH:D013798|NCIT:C3405|ICDO:8600/0		thecoma	http://purl.obolibrary.org/obo/MONDO_0037252	An ovarian or testicular stromal tumor characterized by the presence of lipid-rich neoplastic spindle cells. In females, uterine bleeding is the most common symptom. A minority of post-menopausal women with thecoma have an associated endometrial adenocarcinoma or rarely a malignant mixed mullerian tumor or endometrial stromal sarcoma. Rare cases with nuclear atypia and mitotic activity may metastasize. In males, thecomas are rare and they usually present as slow growing, sometimes painful masses. Metastases have not been reported.	NCIT:C3405|MESH:D013798
MONDO:0037253	ovarian thecoma	biolink:Disease	mondo	SCTID:254864005|NCIT:C66989		theca cell neoplasm of the ovary|ovarian theca cell tumor|theca cell neoplasm of ovary|ovarian theca cell neoplasm|ovary thecoma|ovarian thecoma|thecoma of the ovary|theca cell tumor of the ovary|thecoma of ovary|theca cell tumor of ovary	http://purl.obolibrary.org/obo/MONDO_0037253	A stromal tumor that arises from the ovary and is characterized by the presence of cells that contain lipid and resemble theca cells. The vast majority of cases are benign.	NCIT:C66989|SNOMEDCT:254864005
GO:0098657	import into cell	biolink:OntologyClass	mondo			uptake	http://purl.obolibrary.org/obo/GO_0098657	The directed movement of some substance from outside of a cell into a cell. This may occur via transport across the plasma membrane or via endocytosis.	
MONDO:0037254	transitional cell neoplasm	biolink:Disease	mondo	NCIT:C6783|UMLS:C0334265		transitional cell neoplasm|transitional cell tumor	http://purl.obolibrary.org/obo/MONDO_0037254		NCIT:C6783|UMLS:C0334265
MONDO:0037255	ovarian serous tumor	biolink:Disease	mondo	NCIT:C8431|UMLS:C0476122		ovarian serous neoplasm|serous neoplasm of the ovary|ovarian serous tumor|serous neoplasm of ovary|serous tumor of the ovary|serous tumor of ovary	http://purl.obolibrary.org/obo/MONDO_0037255	A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that, in well differentiated tumors, resemble the epithelial cells of the fallopian tube and, in poorly differentiated tumors, show anaplastic features. Approximately thirty to fifty percent of the tumors are bilateral. Grossly, the better differentiated tumors consist of cystic masses, usually unilocular, containing a clear but sometimes viscous fluid. Papillary formations are often present. The more malignant tumors tend to be solid and invasive, with areas of necrosis and hemorrhage.	UMLS:C0476122|NCIT:C8431
GO:0098655	cation transmembrane transport	biolink:OntologyClass	mondo			ATP hydrolysis coupled cation transmembrane transport	http://purl.obolibrary.org/obo/GO_0098655	The process in which a cation is transported across a membrane.	
MONDO:0037256	serous neoplasm	biolink:Disease	mondo	UMLS:C1335951|NCIT:C7074		serous neoplasm	http://purl.obolibrary.org/obo/MONDO_0037256		UMLS:C1335951|NCIT:C7074
GO:0098656	anion transmembrane transport	biolink:OntologyClass	mondo			ATP hydrolysis coupled anion transmembrane transport	http://purl.obolibrary.org/obo/GO_0098656	The process in which an anion is transported across a membrane.	
GO:0001675	acrosome assembly	biolink:OntologyClass	mondo			acrosome formation	http://purl.obolibrary.org/obo/GO_0001675	The formation of the acrosome from the spermatid Golgi.	
GO:0001677	formation of translation initiation ternary complex	biolink:OntologyClass	mondo			translation initiation ternary complex assembly	http://purl.obolibrary.org/obo/GO_0001677	Formation of a complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2 (either eIF2 in eukaryotes, or IF2 in prokaryotes). In prokaryotes, fMet-tRNA (initiator) is used rather than Met-tRNA (initiator).	
GO:0001678	cellular glucose homeostasis	biolink:OntologyClass	mondo			cell glucose homeostasis	http://purl.obolibrary.org/obo/GO_0001678	A cellular homeostatic process involved in the maintenance of an internal steady state of glucose within a cell or between a cell and its external environment.	
HGNC:132	ACTB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/132		
GO:0060050	positive regulation of protein glycosylation	biolink:OntologyClass	mondo			positive regulation of protein amino acid glycosylation	http://purl.obolibrary.org/obo/GO_0060050	Any process that activates or increases the frequency, rate or extent of the glycosylation of one or more amino acid residues within a protein. Protein glycosylation is the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins.	
GO:0060051	negative regulation of protein glycosylation	biolink:OntologyClass	mondo			negative regulation of protein amino acid glycosylation	http://purl.obolibrary.org/obo/GO_0060051	Any process that stops, prevents, or reduces the frequency, rate or extent of the glycosylation of one or more amino acid residues within a protein. Protein glycosylation is the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins.	
HGNC:130	ACTA2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/130		
GO:1902476	chloride transmembrane transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1902476	The process in which chloride is transported across a membrane.	
GO:0060054	positive regulation of epithelial cell proliferation involved in wound healing	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060054	Any process that activates or increases the rate or extent of epithelial cell proliferation, contributing to the restoration of integrity to a damaged tissue following an injury.	
CHEBI:8058	phencyclidine	biolink:ChemicalSubstance	mondo			phencyclidine|1-(1-phenylcyclohexyl)piperidine|fenciclidina|PCP|Phencyclidine|phencyclidinum	http://purl.obolibrary.org/obo/CHEBI_8058	A member of the class of piperidines that is piperidine in which the nitrogen is substituted with a 1-phenylcyclohexyl group.  Formerly used as an anaesthetic agent, it exhibits both hallucinogenic and neurotoxic effects.	
GO:0098631	cell adhesion mediator activity	biolink:OntologyClass	mondo			protein binding involved in cell adhesion|cell adhesion molecule	http://purl.obolibrary.org/obo/GO_0098631	The binding by a cell-adhesion protein on a cell surface to an adhesion molecule on another cell surface, to mediate adhesion of the cell to the external substrate or to another cell.	
GO:0098632	cell-cell adhesion mediator activity	biolink:OntologyClass	mondo			protein binding involved in cell-cell adhesion|cell-cell adhesion molecule	http://purl.obolibrary.org/obo/GO_0098632	The binding by a cell-adhesion protein on the cell surface to an extracellular matrix component, to mediate adhesion of the cell to another cell.	
HGNC:24268	ASCC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24268		
HGNC:144	ACTG1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/144		
HGNC:143	ACTC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/143		
HGNC:24265	PTRH2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24265		
GO:1902494	catalytic complex	biolink:OntologyClass	mondo			enzyme complex	http://purl.obolibrary.org/obo/GO_1902494	A protein complex which is capable of catalytic activity.	
GO:1902492	positive regulation of sperm capacitation	biolink:OntologyClass	mondo			up regulation of sperm activation|up-regulation of sperm activation|upregulation of sperm capacitation|activation of sperm activation|upregulation of sperm activation|up regulation of sperm capacitation|positive regulation of sperm activation|up-regulation of sperm capacitation|activation of sperm capacitation	http://purl.obolibrary.org/obo/GO_1902492	Any process that activates or increases the frequency, rate or extent of sperm capacitation.	
GO:0060047	heart contraction	biolink:OntologyClass	mondo			heart beating|cardiac contraction|hemolymph circulation	http://purl.obolibrary.org/obo/GO_0060047	The multicellular organismal process in which the heart decreases in volume in a characteristic way to propel blood through the body.	
GO:1902490	regulation of sperm capacitation	biolink:OntologyClass	mondo			regulation of sperm activation	http://purl.obolibrary.org/obo/GO_1902490	Any process that modulates the frequency, rate or extent of sperm capacitation.	
GO:0060049	regulation of protein glycosylation	biolink:OntologyClass	mondo			regulation of protein amino acid glycosylation	http://purl.obolibrary.org/obo/GO_0060049	Any process that modulates the frequency, rate or extent of protein glycosylation. Protein glycosylation is the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins.	
GO:1902491	negative regulation of sperm capacitation	biolink:OntologyClass	mondo			down regulation of sperm capacitation|downregulation of sperm activation|inhibition of sperm capacitation|down-regulation of sperm capacitation|down regulation of sperm activation|negative regulation of sperm activation|down-regulation of sperm activation|downregulation of sperm capacitation|inhibition of sperm activation	http://purl.obolibrary.org/obo/GO_1902491	Any process that stops, prevents or reduces the frequency, rate or extent of sperm capacitation.	
MONDO:0001246	typhus	biolink:Disease	mondo	ICD10:A75.3|ICD10:A75|ICD9:080|ICD10:A75.9|ICD10:A75.1|GARD:0007833|ICD9:081.9|SCTID:240613006|Orphanet:102023|DOID:11256|ICD10:A75.2|ICD10:A75.0|ICD9:081.0|UMLS:C0041472|UMLS:C0041471	ordo_group_of_disorders	famine fever|endemic flea-borne typhus|murine [endemic] typhus|Moscow typhus|endemic typhus fever|typhus-group rickettsiosis|ship fever|prison fever|classical typhus|jail fever|rat flea typhus|louse-borne [epidemic] typhus|hospital fever|petechial fever|exanthematous typhus|louse-borne rickettsiosis|typhus-group rickettsiae disease|typhus exanthematique|European typhus|epidemic louse-borne typhus|flea-borne rickettsiosis|classical typhus (fever)|flea-borne typhus|Urban typhus|louse-borne typhus|exanthematic typhus fever|epidemic louse-borne typhus fever due to Rickettsia prowazekii|epidemic (louse-borne) typhus|murine typhus|shop typhus|Mexican typhus|flea typhus|typhus fever	http://purl.obolibrary.org/obo/MONDO_0001246	A group of infectious diseases that include epidemic typhus, scrub typhus and murine typhus.	SNOMEDCT:240613006|UMLS:C0041472|UMLS:C0041471|UMLS:C0343758|ORPHA:102023|DOID:11256
MONDO:0001245	microcytic anemia	biolink:Disease	mondo	SCTID:234349007|NCIT:C35141|DOID:11252|HP:0001935			http://purl.obolibrary.org/obo/MONDO_0001245	Anemia in which the red blood cell volume is decreased.	SNOMEDCT:234349007|DOID:11252|NCIT:C35141
HGNC:26899	TMTC3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26899		
MONDO:0001244	vitamin K deficiency hemorrhagic disease	biolink:Disease	mondo	ICD9:269.0|DOID:11249|NCIT:C99108|UMLS:C0272348|MESH:D014813|UMLS:C0042880|SCTID:52675005|COHD:435781|ICD10:E56.1		vitamin K deficiency coagulation disorder|vitamin K deficiency|deficiency of vitamin K	http://purl.obolibrary.org/obo/MONDO_0001244	Deficiency of vitamin K. It may lead to bleeding, manifested with ecchymoses, petechiae, and hematomas. In infants it may cause hemorrhagic disease of newborn with intracranial and retroperitoneal bleeding.	NCIT:C99108|UMLS:C0042880|DOID:11249|SNOMEDCT:52675005|UMLS:C0272348|MESH:D014813
MONDO:0001243	disseminated intravascular coagulation	biolink:Disease	mondo	MESH:D004211|COHD:436093|UMLS:C4321305|DOID:11247|NCIT:C2992|UMLS:C0012739|ICD10:D65|SCTID:67406007|ICD9:286.6		disseminated intravascular coagulation (DIC)|DIC|consumptive coagulopathy|DIC, disseminated intravascular coagulation|diffuse or disseminated intravascular coagulation|disseminated intravascular coagulation|defibrination syndrome|coagulation (DIC), disseminated intravascular|intravascular coagulation (DIC), disseminated	http://purl.obolibrary.org/obo/MONDO_0001243	A pathological process where the blood starts to coagulate throughout the whole body. This depletes the body of its platelets and coagulation factors, and there is an increased risk of hemorrhage.	UMLS:C0012739|DOID:11247|MESH:D004211|UMLS:C4321305|NCIT:C2992|SNOMEDCT:67406007
MONDO:0001249	trachoma	biolink:Disease	mondo	ICD10:A71.1|ICD10:A71.0|UMLS:C0040592|ICD10:A71|GARD:0010374|SCTID:2576002|ICD9:076.1|ICD9:076.0|ICD10:A71.9|MESH:D014141|ICD9:076|ICD9:076.9|DOID:11265|COHD:380640	gard_rare	active stage trachoma|trachoma dubium	http://purl.obolibrary.org/obo/MONDO_0001249	A chronic infection of the conjunctiva and cornea caused by chlamydia trachomatis.	UMLS:C0040592|DOID:11265|SNOMEDCT:2576002|MESH:D014141
MONDO:0001248	obsolete rabies	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001248		
MONDO:0001247	social phobia	biolink:Disease	mondo	NCIT:C34927|ICD10:F40.10|EFO:1001917|ICD9:300.23|DOID:11257|COHD:440690|ICD10:F40.1|SCTID:25501002		social anxiety disorder	http://purl.obolibrary.org/obo/MONDO_0001247	An anxiety disorder characterized by an intense, irrational fear of one or more social or performance situations in which the individual believes that he or she will be scrutinized by others. Exposure to social situations immediately provokes an anxiety response. In adults, the social phobia is recognized as excessive or unreasonable.	NCIT:C34927|DOID:11257|SNOMEDCT:25501002
MONDO:0001242	disseminated intravascular coagulation in newborn	biolink:Disease	mondo	COHD:432443|ICD10:P60|NCIT:C111856|DOID:11246|UMLS:C0158992|ICD9:776.2|SCTID:34417008		neonatal disseminated intravascular coagulation|disseminated intravascular coagulation in newborn|DIC in newborn	http://purl.obolibrary.org/obo/MONDO_0001242	A clotting condition characterized as a disruption in the homeostatic balance of the coagulation and fibrinolytic systems presenting as a pathological activation of coagulation mechanisms leading to the formation of small clots inside the blood vessels throughout the body of the newborn.	UMLS:C0158992|SNOMEDCT:34417008|DOID:11246|NCIT:C111856
MONDO:0001241	transient neonatal neutropenia	biolink:Disease	mondo	ICD9:776.7|ICD10:P61.5|DOID:11245|COHD:439149|SCTID:55444004|UMLS:C0158997			http://purl.obolibrary.org/obo/MONDO_0001241		UMLS:C0158997|DOID:11245|SNOMEDCT:55444004
MONDO:0001240	neonatal anemia	biolink:Disease	mondo	UMLS:C0002891|SCTID:234350007|DOID:11244|MESH:D000751		anemia neonatal	http://purl.obolibrary.org/obo/MONDO_0001240	The mildest form of erythroblastosis fetalis in which anemia is the chief manifestation.	DOID:11244|SNOMEDCT:234350007|UMLS:C0002891|MESH:D000751
HGNC:26894	TPRN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26894		
MONDO:0015898	adrenogenital syndrome	biolink:Disease	mondo	ICD9:255.2|UMLS:C0302280|MedDRA:10061630|UMLS:CN200506|Orphanet:181412|SCTID:267395000|MESH:D047808	ordo_group_of_disorders	androgenital syndrome|congenital adrenal hyperplasia|adrenogenital syndrome|adrenogenital disorder	http://purl.obolibrary.org/obo/MONDO_0015898	Abnormal sex differentiation or congenital disorders of sex development caused by abnormal levels of steroid hormones expressed by the gonads or the adrenal glands, such as in congenital adrenal hyperplasia and adrenal cortex neoplasms. Due to abnormal steroid biosynthesis, clinical features include virilism in females; feminization in males; or precocious sexual development in children.	SNOMEDCT:267395000|MEDDRA:10061630|MESH:D047808|UMLS:C0302280|ORPHA:181412|UMLS:CN200506
MONDO:0013235	pancreatic cancer, susceptibility to, 2	biolink:Disease	mondo	OMIM:613347	predisposition	Pnca2|pancreatic cancer, susceptibility to, 2|BRCA2 familial pancreatic carcinoma|susceptibility to pancreatic cancer 2|familial pancreatic carcinoma caused by mutation in BRCA2|pancreatic cancer, susceptibility to, type 2	http://purl.obolibrary.org/obo/MONDO_0013235	Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA2 gene.	http://identifiers.org/omim/613347
MONDO:0015897	obsolete rare hyperparathyroidism	biolink:Disease	mondo	Orphanet:181408	obsoletion_candidate|ordo_group_of_disorders	rare hyperparathyroidism	http://purl.obolibrary.org/obo/MONDO_0015897	Rare hyperparathyroidism.	ORPHA:181408
MONDO:0013236	pancreatic cancer, susceptibility to, 3	biolink:Disease	mondo	OMIM:613348	predisposition	Pnca3|PALB2 familial pancreatic carcinoma|familial pancreatic carcinoma caused by mutation in PALB2|pancreatic cancer, susceptibility to, 3|susceptibility to pancreatic cancer 3|pancreatic cancer, susceptibility to, type 3	http://purl.obolibrary.org/obo/MONDO_0013236	Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALB2 gene.	http://identifiers.org/omim/613348
MONDO:0015896	obsolete rare hypoparathyroidism	biolink:Disease	mondo	Orphanet:181405	obsoletion_candidate|clingen|ordo_group_of_disorders	rare hypoparathyroidism	http://purl.obolibrary.org/obo/MONDO_0015896	Rare hypoparathyroidism.	ORPHA:181405
MONDO:0013233	spondyloepimetaphyseal dysplasia, Handigodu type	biolink:Disease	mondo	OMIM:613343|Orphanet:99642|UMLS:C3150545|ICD10:Q77.7	ordo_disease	spondyloepimetaphyseal dysplasia, Handigodu type|Hjd|Handigodu JOINT disease	http://purl.obolibrary.org/obo/MONDO_0013233	Spondyloepimetaphyseal dysplasia, Handigodu type is a rare, genetic, primary bone dysplasia characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dyspalstic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces and sclerotic and cystic changes on imaging.	UMLS:C3150545|http://identifiers.org/omim/613343|ORPHA:99642
MONDO:0013234	hypokalemic periodic paralysis, type 2	biolink:Disease	mondo	OMIM:613345|UMLS:C2750061|MESH:C567635		hypokalemic periodic paralysis, type 2; HOKPP2|hypokalemic periodic paralysis, type 2|HOKPP2	http://purl.obolibrary.org/obo/MONDO_0013234		UMLS:C2750061|http://identifiers.org/omim/613345|MESH:C567635
MONDO:0015895	syndrome with hypoparathyroidism	biolink:Disease	mondo	Orphanet:181402|UMLS:CN200505	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015895		ORPHA:181402|UMLS:CN200505
MONDO:0013239	hereditary spastic paraplegia 41	biolink:Disease	mondo	SCTID:763069002|OMIM:613364|Orphanet:320355|ICD10:G11.4|DOID:0110793|UMLS:CN203988	ordo_disease	spastic paraplegia 41, autosomal dominant; SPG41|hereditary spastic paraplegia type 41|autosomal dominant spastic paraplegia 41|autosomal dominant spastic paraplegia type 41|SPG41|spastic paraplegia 41, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0013239	Autosomal dominant spastic paraplegia type 41 is a pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise.	ORPHA:320355|DOID:0110793|SNOMEDCT:763069002|http://identifiers.org/omim/613364|UMLS:CN203988
MONDO:0013237	susceptibility to mononeuropathy of the median nerve, mild	biolink:Disease	mondo	OMIM:613353|UMLS:C3150596		mononeuropathy of the median nerve, mild|carpal tunnel syndrome, susceptibility to|MNMN|mononeuropathy of the median nerve, mild; MNMN	http://purl.obolibrary.org/obo/MONDO_0013237		UMLS:C3150596|http://identifiers.org/omim/613353
MONDO:0013238	chromosome 17q23.1-q23.2 deletion syndrome	biolink:Disease	mondo	UMLS:C3150607|Orphanet:261279|UMLS:C4304591|OMIM:613355|ICD10:Q93.5|SCTID:719584008|DOID:0060405|GARD:0010936	ordo_malformation_syndrome	17q23.1q23.2 microdeletion syndrome|Del(17)(q23.1q23.2)|monosomy 17q23.1-q23.2|monosomy 17q23.1q23.2|17q23.1-q23.2 microdeletion syndrome|chromosome 17q23.1-q23.2 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0013238	17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.	UMLS:C4304591|UMLS:C3150607|DOID:0060405|SNOMEDCT:719584008|ORPHA:261279|http://identifiers.org/omim/613355
MONDO:0015899	obsolete rare primary hyperaldosteronism	biolink:Disease	mondo	Orphanet:181415	ordo_group_of_disorders|obsoletion_candidate	rare Conn's syndrome|rare primary aldosteronism|rare Conn syndrome	http://purl.obolibrary.org/obo/MONDO_0015899	Any of the forms of primary aldosteronism that have a rare incidence.	ORPHA:181415
MONDO:0015890	rare disorder with congenital hypogonadotropic hypogonadism	biolink:Disease	mondo	Orphanet:181387	ordo_group_of_disorders|obsoletion_candidate	rare disorder with hypogonadotropic hypogonadism|rare disorder with secondary hypogonadism	http://purl.obolibrary.org/obo/MONDO_0015890		ORPHA:181387
MONDO:0013231	Leber congenital amaurosis 14	biolink:Disease	mondo	ICD10:H35.5|UMLS:C2750063|OMIM:613341|DOID:0110188|MESH:C567636|GARD:0010883	gard_rare	Leber congenital amaurosis type 14|LCA14|retinal dystrophy, early-onset Severe, LRAT-related|Leber congenital amaurosis caused by mutation in LRAT|LRAT Leber congenital amaurosis|Leber congenital amaurosis 14|retinitis pigmentosa, juvenile, LRAT-related|Leber congenital amaurosis 14; LCA14	http://purl.obolibrary.org/obo/MONDO_0013231	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LRAT gene.	DOID:0110188|UMLS:C2750063|http://identifiers.org/omim/613341|MESH:C567636
MONDO:0015894	obsolete rare hyperthyroidism	biolink:Disease	mondo	Orphanet:181399	ordo_group_of_disorders|obsoletion_candidate	rare hyperthyroidism	http://purl.obolibrary.org/obo/MONDO_0015894	Any of the forms of hyperthyroidism that have a rare incidence.	ORPHA:181399
MONDO:0015893	obsolete rare hypothyroidism	biolink:Disease	mondo	Orphanet:181396	obsoletion_candidate|ordo_group_of_disorders	rare hypothyroidism	http://purl.obolibrary.org/obo/MONDO_0015893	Any of the forms of hypothyroidism that have a rare incidence.	ORPHA:181396
MONDO:0013232	brachydactylous dwarfism, Mseleni type	biolink:Disease	mondo	UMLS:C2931420|MESH:C537086|Orphanet:2619|SCTID:715470008|GARD:0000960|ICD10:Q77.7|OMIM:613342	ordo_disease	Mseleni joint disease|brachydactylous dwarfs of Mseleni|brachydactylous dwarfism Mseleni type|Mseleni JOINT disease	http://purl.obolibrary.org/obo/MONDO_0013232	Mseleni joint disease (MJD) is a rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD.	UMLS:C2931420|http://identifiers.org/omim/613342|MESH:C537086|ORPHA:2619|SNOMEDCT:715470008
MONDO:0015892	growth hormone insensitivity syndrome	biolink:Disease	mondo	ICD10:E34.3|GARD:0003924|UMLS:CN200504|UMLS:C0271568|NCIT:C129867|UMLS:C4318479|Orphanet:181393	ordo_group_of_disorders	GHIS|short stature due to a defect in growth hormone receptor or post-receptor pathway|Growth hormone insensitivity syndromes	http://purl.obolibrary.org/obo/MONDO_0015892	Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency.	UMLS:C0271568|UMLS:C4318479|ORPHA:181393|UMLS:CN200504|NCIT:C129867
MONDO:0013230	epilepsy, hot water, 2	biolink:Disease	mondo	UMLS:C3150536|OMIM:613340		HWE2|epilepsy, hot water, 2; HWE2|epilepsy, hot water, 2	http://purl.obolibrary.org/obo/MONDO_0013230		UMLS:C3150536|http://identifiers.org/omim/613340
MONDO:0015891	obsolete hypogonadotropic hypogonadism associated with other endocrinopathies	biolink:Disease	mondo	Orphanet:181390	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015891		ORPHA:181390
MONDO:0001257	retinal microaneurysm	biolink:Disease	mondo	SCTID:34037000|ICD9:362.14|COHD:432890|DOID:11295|UMLS:C0154834			http://purl.obolibrary.org/obo/MONDO_0001257		SNOMEDCT:34037000|DOID:11295|UMLS:C0154834
MONDO:0001256	arteriovenous hemangioma/malformation	biolink:Disease	mondo	SCTID:233982006|NCIT:C2882|UMLS:C0334533|ICDO:9123/0|CSP:0571-2717|HP:0100026|DOID:11294|ICD10:I77.0|MESH:D001165		cirsoid aneurysm|racemose hemangioma (morphologic abnormality)|arteriovenous hemangioma|arteriovenous malformation|racemose hemangioma|racemose angioma|racemose aneurysm (morphologic abnormality)|racemose aneurysm|arteriovenous angioma|arteriovenous hemangioma/malformation	http://purl.obolibrary.org/obo/MONDO_0001256	A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures.	DOID:11294|SNOMEDCT:233982006|UMLS:C0334533|MESH:D001165|NCIT:C2882
HGNC:24249	YARS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24249		
MONDO:0001255	ventilation pneumonitis	biolink:Disease	mondo	DOID:11289|COHD:434670|ICD10:J67.7|ICD9:495.7|SCTID:195990006|UMLS:C0155891		humidifier lung|Air-conditioner and humidifier lung	http://purl.obolibrary.org/obo/MONDO_0001255	An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease.	SNOMEDCT:195990006|DOID:11289|UMLS:C0155891
HGNC:24247	GLYCTK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24247		
MONDO:0001254	obsolete peripheral scars of retina	biolink:Disease	mondo	DOID:11283|ICD9:363.34			http://purl.obolibrary.org/obo/MONDO_0001254		DOID:11283
MONDO:0001259	pituitary gland infarction	biolink:Disease	mondo	DOID:1130|ICD9:253.8|SCTID:95830009|UMLS:C0342405|NCIT:C27117		pituitary gland infarction|pituitary infarct|pituitary infarction	http://purl.obolibrary.org/obo/MONDO_0001259	Ischemic necrosis of the pituitary gland.	UMLS:C0342405|NCIT:C27117|DOID:1130|SNOMEDCT:95830009
MONDO:0001258	vertebral artery occlusion	biolink:Disease	mondo	ICD9:433.21|ICD9:433.20|SCTID:195182007|DOID:11299|ICD10:I65.0|ICD9:433.2		vertebral artery occlusion|occlusion and stenosis of vertebral artery|vertebrobasial artery occlusion	http://purl.obolibrary.org/obo/MONDO_0001258		DOID:11299|SNOMEDCT:195182007
MONDO:0013219	hypophosphatemic rickets, autosomal recessive, 2	biolink:Disease	mondo	MESH:C567647|OMIM:613312|UMLS:C2750078		ENPP1 autosomal recessive hypophosphatemic rickets|hypophosphatemic rickets, autosomal recessive, type 2|autosomal recessive hypophosphatemic rickets caused by mutation in ENPP1|ARHR2|hypophosphatemic rickets, autosomal recessive, 2; ARHR2|hypophosphatemic rickets, autosomal recessive, 2	http://purl.obolibrary.org/obo/MONDO_0013219	Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the ENPP1 gene.	http://identifiers.org/omim/613312|MESH:C567647|UMLS:C2750078
MONDO:0001253	obsolete solar retinopathy	biolink:Disease	mondo	UMLS:C0152131|SCTID:1135000|ICD10:H31.02|DOID:11282|ICD9:363.31		solar retinitis	http://purl.obolibrary.org/obo/MONDO_0001253		DOID:11282|UMLS:C0152131|SNOMEDCT:1135000
MONDO:0001252	Plummer disease	biolink:Disease	mondo	DOID:11277|COHD:134619|NCIT:C35171|ICD9:242.30|UMLS:C0342127|ICD10:E05.2|SCTID:57777000|ICD9:242.3|EFO:0009191		Toxic goiter|toxic nodular goiter|Plummer disease|Plummer's disease	http://purl.obolibrary.org/obo/MONDO_0001252	Nodular enlargement of the thyroid gland associated with hyperthyroidism.	DOID:11277|NCIT:C35171|SNOMEDCT:57777000|UMLS:C0342127
HGNC:24245	DRC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24245		
MONDO:0001251	chronic apical periodontitis	biolink:Disease	mondo	DOID:11269|ICD9:522.6|SCTID:718052004|UMLS:C0392492|COHD:137591|ICD10:K04.5		periapical periodontitis, chronic|chronic periapical periodontitis	http://purl.obolibrary.org/obo/MONDO_0001251	Chronic form of periapical periodontitis.	DOID:11269|UMLS:C0392492|SNOMEDCT:718052004
MONDO:0001250	keratomalacia	biolink:Disease	mondo	MESH:C536156|DOID:11267|UMLS:C0152455|ICD9:371.45|ICD10:H18.44|SCTID:85149007|GARD:0006825			http://purl.obolibrary.org/obo/MONDO_0001250	An eye disorder that results from vitamin A deficiency, with basis in disruption of maintenance of the specialized epithelial surfaces, leading to atrophic changes in the normal mucosal surface, with loss of goblet cells, and replacement of the normal epithelium by an inappropriate keratinized stratified squamous epithelium. In addition, the substantia propria of the cornea breaks down and liquefies, resulting in keratomalacia.	DOID:11267|UMLS:C0152455|MESH:C536156|SNOMEDCT:85149007
MONDO:0013224	rhabdoid tumor predisposition syndrome 2	biolink:Disease	mondo	OMIM:613325|MESH:C567643|UMLS:C2750074		rhabdoid tumor predisposition syndrome 2|familial rhabdoid tumor caused by mutation in SMARCA4|SMARCA4 familial rhabdoid tumor|RTPS2|rhabdoid tumor predisposition syndrome 2; RTPS2|rhabdoid tumor predisposition syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0013224	Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCA4 gene.	UMLS:C2750074|http://identifiers.org/omim/613325|MESH:C567643
MONDO:0015887	rare diabetes mellitus type 2	biolink:Disease	mondo	Orphanet:181376	ordo_group_of_disorders|obsoletion_candidate	rare insulin-independent diabetes mellitus	http://purl.obolibrary.org/obo/MONDO_0015887		ORPHA:181376
MONDO:0013225	congenital generalized lipodystrophy type 4	biolink:Disease	mondo	Orphanet:228429|MESH:C567642|DOID:0111138|ICD10:E88.1|OMIM:613327|UMLS:C2750069|GARD:0010937	ordo_disease	CGL4|GCL4|CAVIN1 congenital generalized lipodystrophy (disease)|generalized congenital lipodystrophy with myopathy|Berardinelli-Seip congenital lipodystrophy, type 4, with muscular dystrophy|Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy|lipodystrophy, congenital generalized, type 4; CGL4|congenital generalized lipodystrophy (disease) caused by mutation in CAVIN1|Brunzell syndrome AGPAT2-related|lipodystrophy, Berardinelli-Seip congenital, type 4, with muscular dystrophy|generalized congenital lipodystrophy type 4|BSCL4|lipodystrophy, congenital generalized, type 4	http://purl.obolibrary.org/obo/MONDO_0013225	Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene.	MESH:C567642|DOID:0111138|UMLS:C2750069|ORPHA:228429|http://identifiers.org/omim/613327
MONDO:0015886	obsolete rare diabetes mellitus type 1	biolink:Disease	mondo	Orphanet:181371	ordo_group_of_disorders|obsoletion_candidate	rare type 1 diabetes mellitus|rare insulin-dependent diabetes mellitus	http://purl.obolibrary.org/obo/MONDO_0015886	Any of the forms of type 1 diabetes mellitus that have a rare incidence.	ORPHA:181371
HGNC:12269	TREX1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12269		
MONDO:0013222	Miyoshi muscular dystrophy 3	biolink:Disease	mondo	DOID:0070201|UMLS:C2750076|ICD10:G71.0|Orphanet:399096|OMIM:613319|MESH:C567645	ordo_disease	Miyoshi muscular dystrophy 3|distal anoctaminopathy|MMD3|Miyoshi muscular dystrophy type 3|Miyoshi muscular dystrophy 3; MMD3|Miyoshi myopathy 3	http://purl.obolibrary.org/obo/MONDO_0013222		UMLS:C2750076|DOID:0070201|http://identifiers.org/omim/613319|MESH:C567645|ORPHA:399096
MONDO:0015885	rare insulin-resistance syndrome	biolink:Disease	mondo	UMLS:C3714619|Orphanet:181368|NCIT:C113169	ordo_group_of_disorders|obsoletion_candidate	insulin Resistance syndrome	http://purl.obolibrary.org/obo/MONDO_0015885	A cluster of closely related metabolic abnormalities associated with insulin resistance that confer an increased risk of the development of type 2 diabetes and cardiovascular disease. These abnormalities may include obesity, high blood pressure, abnormal cholesterol levels, proteinuria, and/or polycystic ovary syndrome.	NCIT:C113169|UMLS:C3714619|ORPHA:181368
MONDO:0015884	autosomal dominant hypohidrotic ectodermal dysplasia	biolink:Disease	mondo	ICD10:Q82.4|Orphanet:1810	ordo_etiological_subtype	AD-HED|autosomal dominant anhidrotic ectodermal dysplasia|hypohidrotic ectodermal dysplasia, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0015884	Autosomal dominant form of hypohidrotic ectodermal dysplasia.	ORPHA:1810|UMLS:C0265331
MONDO:0013223	autosomal recessive spondylometaphyseal dysplasia, Megarbane type	biolink:Disease	mondo	OMIM:613320|MESH:C567644|ICD10:Q77.8|UMLS:C2750075|Orphanet:401979	ordo_malformation_syndrome	SMDMDM|spondylometaphyseal dysplasia, MEGARBANE-DAGHER-MELKI type|PAM16 spondylodysplastic dysplasia|autosomal recessive spondylometaphyseal dysplasia, Mégarbané type|chondrodysplasia, Megarbane-Dagher-Melki type|spondylometaphyseal dysplasia, MEGARBANE-DAGHER-MELKI type; SMDMDM|spondylodysplastic dysplasia caused by mutation in PAM16	http://purl.obolibrary.org/obo/MONDO_0013223	Any spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene.	UMLS:C2750075|http://identifiers.org/omim/613320|ORPHA:401979|MESH:C567644
MONDO:0013228	spondylo-megaepiphyseal-metaphyseal dysplasia	biolink:Disease	mondo	UMLS:C2750066|OMIM:613330|Orphanet:228387|MESH:C567639|ICD10:Q77.7	ordo_disease	SMMD|spondylo-megaepiphyseal-metaphyseal dysplasia; SMMD|spondylo-megaepiphyseal-metaphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0013228		MESH:C567639|UMLS:C2750066|ORPHA:228387|http://identifiers.org/omim/613330
MONDO:0013229	hot water reflex epilepsy	biolink:Disease	mondo	OMIMPS:613339|SCTID:230454005|ICD9:345.10|ICD10:G40.8|DC:0000151|UMLS:CN200053|Orphanet:166412|UMLS:C0393729	ordo_disease	water immersion epilepsy|epilepsy, hot water|hot water epilepsy|bathing epilepsy	http://purl.obolibrary.org/obo/MONDO_0013229	Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases.	UMLS:CN200053|SNOMEDCT:230454005|UMLS:C0393729|ORPHA:166412
MONDO:0015889	rare hypothalamic or pituitary disease	biolink:Disease	mondo	Orphanet:181384|UMLS:CN200503	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0015889		ORPHA:181384|UMLS:CN200503
MONDO:0013226	combined immunodeficiency with faciooculoskeletal anomalies	biolink:Disease	mondo	UMLS:C2750068|MESH:C567641|Orphanet:221139|ICD10:Q87.8|OMIM:613328	ordo_disease	Roifman-Chitayat syndrome|ROIFMAN-Chitayat syndrome|combined immunodeficiency, Facial Dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay	http://purl.obolibrary.org/obo/MONDO_0013226	Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).	MESH:C567641|UMLS:C2750068|ORPHA:221139|http://identifiers.org/omim/613328
MONDO:0015888	other rare diabetes mellitus	biolink:Disease	mondo	Orphanet:181381|UMLS:CN226773	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0015888		UMLS:CN226773|ORPHA:181381
MONDO:0013227	congenital plasminogen activator inhibitor type 1 deficiency	biolink:Disease	mondo	Orphanet:465|GARD:0004381|MESH:C567640|ICD10:D68.8|OMIM:613329|SCTID:717407006|NCIT:C133884	ordo_disease	congenital PAI-1 deficiency|plasminogen activator inhibitor type 1 deficiency|hyperfibrinolysis due to Pai1 deficiency|plasminogen activator INHIBITOR-1 deficiency	http://purl.obolibrary.org/obo/MONDO_0013227	Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency.	MESH:C567640|ORPHA:465|NCIT:C133884|SNOMEDCT:717407006|http://identifiers.org/omim/613329
SO:0001877	lnc_RNA	biolink:SequenceFeature	mondo			INSDC_qualifier:lncRNA|long non-coding RNA|lncRNA_transcript|INSDC_feature:ncRNA	http://purl.obolibrary.org/obo/SO_0001877	A non-coding RNA over 200nucleotides in length.	
HGNC:12261	TRDN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12261		
MONDO:0013220	hemochromatosis type 2B	biolink:Disease	mondo	UMLS:C1865616|OMIM:613313|DOID:0111032|MESH:C566557		HAMP hemochromatosis type 2|hemochromatosis, type 2B|hemochromatosis, type 2B; HFE2B|hemochromatosis type 2 caused by mutation in HAMP|HFE2B	http://purl.obolibrary.org/obo/MONDO_0013220	Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HAMP gene.	UMLS:C1865616|http://identifiers.org/omim/613313|DOID:0111032|MESH:C566557
MONDO:0015883	hidrotic ectodermal dysplasia, Halal type	biolink:Disease	mondo	MESH:C535621|Orphanet:1809|ICD10:Q82.8|GARD:0000280|UMLS:C2930953|SCTID:721147000	ordo_malformation_syndrome	ectodermal dysplasia with skin anomalies and intellectual disability|hidrotic ectodermal dysplasia Halal type|trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome|Halal Setton Wang syndrome|Halal-Setton-Wang syndrome	http://purl.obolibrary.org/obo/MONDO_0015883	Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, cafC)-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner.	SNOMEDCT:721147000|MESH:C535621|UMLS:C2930953|ORPHA:1809
HGNC:12266	TREH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12266		
MONDO:0015882	obsolete rare tumor of pancreas	biolink:Disease	mondo	Orphanet:180824	obsoletion_candidate|ordo_group_of_disorders	rare pancreas neoplasm|rare pancreatic neoplasm|rare pancreas tumor|rare pancreatic tumor	http://purl.obolibrary.org/obo/MONDO_0015882	Any of the forms of pancreatic neoplasm that have a rare incidence.	ORPHA:180824
MONDO:0013221	Miyoshi muscular dystrophy 2	biolink:Disease	mondo	DOID:0070200|OMIM:613318|UMLS:C2750077|MESH:C567646		Miyoshi muscular dystrophy 2|MMD2|MIYOSHI muscular dystrophy 2; MMD2|Miyoshi myopathy 2	http://purl.obolibrary.org/obo/MONDO_0013221		UMLS:C2750077|DOID:0070200|http://identifiers.org/omim/613318|MESH:C567646
MONDO:0015881	obsolete gastroesophageal tumor	biolink:Disease	mondo	Orphanet:180821|UMLS:CN200488	ordo_group_of_disorders	rare gastroesophageal tumor	http://purl.obolibrary.org/obo/MONDO_0015881	A tumor involving the gastroesophageal tissue.	ORPHA:180821|UMLS:CN200488
MONDO:0015880	syndromic diaphragmatic or thoracic malformation	biolink:Disease	mondo	Orphanet:180779|UMLS:CN226770	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015880		UMLS:CN226770|ORPHA:180779
NCBITaxon:37962		organism taxon	mondo				http://purl.obolibrary.org/obo/NCBITaxon_37962		
NCBITaxon:35301		organism taxon	mondo				http://purl.obolibrary.org/obo/NCBITaxon_35301		
MONDO:0003887	ovarian mucinous adenofibroma	biolink:Disease	mondo	DOID:6469|UMLS:C1518723|NCIT:C40040		ovarian mucinous adenofibroma|mucinous adenofibroma of ovary|ovary mucinous adenofibroma	http://purl.obolibrary.org/obo/MONDO_0003887	A benign neoplasm of the ovary characterized by the presence of glands with mucinous columnar epithelial cells in a fibrotic stroma.	DOID:6469|UMLS:C1518723|NCIT:C40040
MONDO:0001224	Angelucci syndrome	biolink:Disease	mondo	SCTID:67678004|ICD10:H10.1|COHD:380111|NCIT:C34353|UMLS:C0001309|DOID:11203|ICD9:372.05		Angelucci's syndrome|Angelucci syndrome|acute atopic conjunctivitis	http://purl.obolibrary.org/obo/MONDO_0001224	Atopic conjunctivitis that is of relatively short duration and that has a rapid onset.	UMLS:C0001309|NCIT:C34353|DOID:11203|SNOMEDCT:67678004
NCBITaxon:11320	Influenza A virus	organism taxon	mondo	GC_ID:1		FLUAV|Human Influenza A Virus|Influenza virus type A	http://purl.obolibrary.org/obo/NCBITaxon_11320		
MONDO:0003888	childhood testicular mixed embryonal carcinoma and teratoma	biolink:Disease	mondo	UMLS:C1333008|DOID:6474|NCIT:C6539		childhood teratocarcinoma of testis|childhood testicular teratocarcinoma|childhood teratocarcinoma of the testis|childhood testicular mixed embryonal carcinoma and teratoma|pediatric testicular teratocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003888	A malignant testicular mixed germ cell neoplasm that occurs during childhood. It is characterized by the presence of embryonal carcinoma and teratoma components.	DOID:6474|NCIT:C6539|UMLS:C1333008
MONDO:0001223	parathyroid gland disease	biolink:Disease	mondo	EFO:0005754|COHD:138713|ICD10:E21.5|UMLS:C0030517|ICD9:252.8|DOID:11201|ICD9:252|ICD9:252.9|SCTID:73132005|MESH:D010279|NCIT:C26844		parathyroid disease|parathyroid gland diseases|disease or disorder of parathyroid gland|disease of parathyroid glands|parathyroid gland disorders|parathyroid gland disease|disease of parathyroid gland|parathyroid gland disorder|parathyroid gland disease or disorder|disorder of parathyroid gland	http://purl.obolibrary.org/obo/MONDO_0001223	A disease involving the parathyroid gland.	UMLS:C0030517|SNOMEDCT:73132005|MESH:D010279|DOID:11201|NCIT:C26844
HGNC:26877	CKAP2L	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26877		
MONDO:0003889	infiltrating bladder urothelial carcinoma, clear cell variant	biolink:Disease	mondo	NCIT:C39827|UMLS:C1512737|DOID:6476		clear cell variant infiltrating bladder urothelial carcinoma|infiltrating bladder urothelial carcinoma, clear cell variant	http://purl.obolibrary.org/obo/MONDO_0003889	An invasive transitional cell carcinoma of the bladder characterized by the presence of clear cells.	DOID:6476|UMLS:C1512737|NCIT:C39827
MONDO:0001222	congenital T-cell immunodeficiency	biolink:Disease	mondo	NCIT:C27872|UMLS:C1333147|DOID:11200		congenital T-cell immunodeficiency|T cell deficiency	http://purl.obolibrary.org/obo/MONDO_0001222	A broad classification of inherited disorders presenting at birth that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective.	DOID:11200|NCIT:C27872|UMLS:C1333147
MONDO:0001221	esophageal varices	biolink:Disease	mondo	ICD10:I85.01|ICD9:456.2|ICD10:I85|NCIT:C53506|DOID:112|ICD9:456.20|MESH:D004932|SCTID:28670008|ICD9:456.0|GARD:0006384		esophageal varices in disease classified elsewhere, with bleeding|bleeding esophageal varices|bleeding oesophageal varices|esophageal varices with bleeding|esophageal varices without bleeding|varicose disease of esophagus|esophageal varices without mention of bleeding|esophageal varix|esophageal varices|esophageal varices with bleeding in disease EC|esophagus varicose disease	http://purl.obolibrary.org/obo/MONDO_0001221	Abnormally dilated veins of the esophagus.	DOID:112|SNOMEDCT:28670008|MESH:D004932|NCIT:C78282|NCIT:C53506
MONDO:0003883	obsolete cerebellar liponeurocytoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003883		
MONDO:0001228	conjunctival folliculosis	biolink:Disease	mondo	ICD10:H10.01|SCTID:41308008|DOID:11219|COHD:376412|ICD9:372.02|UMLS:C0155143		acute follicular conjunctivitis	http://purl.obolibrary.org/obo/MONDO_0001228		UMLS:C0155143|SNOMEDCT:41308008|DOID:11219
MONDO:0003884	lipoma of the rectum	biolink:Disease	mondo	DOID:6459|UMLS:C1335684|NCIT:C5551		lipoma of rectum|rectal lipoma|rectum lipoma	http://purl.obolibrary.org/obo/MONDO_0003884	A benign adipose tissue neoplasm of the rectum.	NCIT:C5551|UMLS:C1335684|DOID:6459
MONDO:0001227	chronic tympanitis	biolink:Disease	mondo	UMLS:C0395849|ICD10:H73.1|COHD:372652|DOID:11217|ICD9:384.1|ICD10:H73.10|SCTID:89723004		tympanitis, chronic	http://purl.obolibrary.org/obo/MONDO_0001227	Chronic form of tympanitis.	SNOMEDCT:89723004|DOID:11217|UMLS:C0395849
MONDO:0001226	acute contagious conjunctivitis	biolink:Disease	mondo	SCTID:399219006|DOID:11213|NCIT:C35704|UMLS:C1313983|ICD9:041.89		Contagious opthalmia|pinkeye|conjunctivitis infective|pink eye	http://purl.obolibrary.org/obo/MONDO_0001226	Acute inflammation of the conjunctiva characterized by pink or red color in the eyes.	NCIT:C35704|UMLS:C1313983|DOID:11213|SNOMEDCT:399219006
MONDO:0003885	colorectal lipoma	biolink:Disease	mondo	NCIT:C5678|DOID:6460|UMLS:C1333114		lipoma of the large bowel|large bowel lipoma|lipoma of large bowel|large intestine lipoma|colorectal lipoma|lipoma of large intestine|lipoma of the large intestine	http://purl.obolibrary.org/obo/MONDO_0003885	A rare benign adipose tissue neoplasm arising from the wall of the colon and rectum.	NCIT:C5678|UMLS:C1333114|DOID:6460
MONDO:0001225	opioid abuse	biolink:Disease	mondo	ICD9:305.5|SCTID:5602001|DOID:11206|ICD10:F11.1			http://purl.obolibrary.org/obo/MONDO_0001225	A substance abuse that involves the recurring use of opioid drugs despite negative consequences.	DOID:11206|SNOMEDCT:5602001
MONDO:0003886	mucinous cystadenofibroma	biolink:Disease	mondo	UMLS:C1377844|DOID:6468|NCIT:C8979		mucinous cystadenofibroma	http://purl.obolibrary.org/obo/MONDO_0003886	A benign neoplasm characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma.	NCIT:C8979|UMLS:C1377844|DOID:6468
MONDO:0003880	ceruminous carcinoma	biolink:Disease	mondo	ICDO:8420/3|DOID:6446|UMLS:C0334353|NCIT:C4176		ceruminous adenocarcinoma (morphologic abnormality)|ceruminous adenocarcinoma|carcinoma, ceruminous gland, malignant	http://purl.obolibrary.org/obo/MONDO_0003880	An infiltrating adenocarcinoma derived from ceruminous glands in the external auditory canal.	NCIT:C4176|UMLS:C0334353|DOID:6446
MONDO:0003881	vulvar apocrine adenocarcinoma	biolink:Disease	mondo	DOID:6448|UMLS:C2202741|NCIT:C40308		apocrine adenocarcinoma of mammalian vulva|mammalian vulva apocrine adenocarcinoma|vulvar apocrine adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003881	An apocrine adenocarcinoma that arises from the sweat glands in the vulva.	NCIT:C40308|UMLS:C2202741|DOID:6448
MONDO:0013208	cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome	biolink:Disease	mondo	DOID:0080536|ICD9:277.89|UMLS:CN035550|Orphanet:309854|SCTID:702377007|MESH:C548016|GARD:0010706|OMIM:613280	ordo_disease	hypermanganesemia with dystonia, polycythemia, and cirrhosis; HMDPC|hypermanganesemia with dystonia polycythemia and cirrhosis|hypermanganesemia with dystonia 1|HMDPC|hypermanganesemia with dystonia 1; HMNDYT1|hypermanganesemia with dystonia, polycythemia, and cirrhosis|HMNDYT1	http://purl.obolibrary.org/obo/MONDO_0013208		http://identifiers.org/omim/613280|DOID:0080536|MESH:C548016|SNOMEDCT:702377007|UMLS:C2750442|ORPHA:309854|UMLS:CN035550
MONDO:0013209	non-alcoholic fatty liver disease	biolink:Disease	mondo	EFO:0003095|MedDRA:10029530|NCIT:C84444|EFO:1001248|DC:0000158|SCTID:197315008|ICD9:571.8|DOID:0080208|MESH:D065626	predisposition	fatty liver disease, nonalcoholic|non-alcoholic fatty liver|liver disease, alcoholic, susceptibility to, 1|NAFLD1|NAFLD - nonalcoholic fatty liver disease|non-alcoholic fatty liver disease|fatty liver disease, nonalcoholic, susceptibility to, 1; NAFLD1|fatty liver disease, nonalcoholic, susceptibility to, 1|nonalcoholic fatty liver disease	http://purl.obolibrary.org/obo/MONDO_0013209	A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use.	DOID:0080208|SNOMEDCT:197315008|MESH:D065626|NCIT:C84444
MONDO:0003882	central nervous system fibrosarcoma	biolink:Disease	mondo	UMLS:C1332879|NCIT:C5465|DOID:6451		CNS fibrosarcoma|central nervous system fibrosarcoma|fibrosarcoma of the CNS|central nervous system fibrosarcoma (disease)|fibrosarcoma of central nervous system|fibrosarcoma of the central nervous system|fibrosarcoma of CNS	http://purl.obolibrary.org/obo/MONDO_0003882	A usually aggressive malignant neoplasm arising from the central nervous system. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.	UMLS:C1332879|NCIT:C5465|DOID:6451
MONDO:0001220	hypoparathyroidism	biolink:Disease	mondo	ICD10:E20.9|SCTID:36976004|ICD9:252.1|COHD:140362|GARD:0006733|NCIT:C78350|ICD10:E20|DOID:11199|MESH:D007011	gard_rare	hypoparathyroidism, idiopathic (subtype)|parathyroid, underactivity of	http://purl.obolibrary.org/obo/MONDO_0001220	Hypoparathyroidism is is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms includeabdominal pain, brittle nails, cataracts, dry hair and skin,muscle cramps,tetany, pain in the face, legs, and feet, seizures, tingling sensation,and weakened tooth enamel (in children). It may be caused byinjury to the parathyroid glands (e.g., during surgery). Other causes, include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, DiGeorge syndrome, and type I polyglandular autoimmune syndrome. The goal of treatment is to restore the calcium and mineral balance in the body.	MESH:D007011|SNOMEDCT:36976004|DOID:11199|NCIT:C78350
MONDO:0040872	non-psychogenic polydipsia	biolink:Disease	mondo			idiopathic polydipsia	http://purl.obolibrary.org/obo/MONDO_0040872	A form of primary polydipsia not caused by underlying psychiatric symptoms.	
MONDO:0040871	psychogenic polydipsia	biolink:Disease	mondo	SCTID:15945005		psychogenic polydipsia	http://purl.obolibrary.org/obo/MONDO_0040871	A form of primary polydipsia caused by underlying psychiatric symptoms, including those caused by psychoses and rarely by affective disorders.	SNOMEDCT:15945005
HGNC:24212	CISD2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24212		
MONDO:0040870	primary polydipsia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0040870	A form of polydipsia characterised by excessive fluid intake in the absence of physiological stimuli to drink.	
MONDO:0013213	CIHL	biolink:Disease	mondo	OMIM:613290		hearing loss, cisplatin-induced, susceptibility to; CIHL|hearing loss, cisplatin-induced, susceptibility to|CIHL	http://purl.obolibrary.org/obo/MONDO_0013213		http://identifiers.org/omim/613290
MONDO:0015876	rare vulvovaginal tumor	biolink:Disease	mondo	UMLS:CN200482|Orphanet:180312	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0015876		UMLS:CN200482|ORPHA:180312
MONDO:0015875	rare non-malformative uterine adnexal disease	biolink:Disease	mondo	UMLS:CN200481|Orphanet:180303	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0015875		UMLS:CN200481|ORPHA:180303
MONDO:0013214	bile acid malabsorption, primary	biolink:Disease	mondo	UMLS:C2750087|MESH:C567652|OMIM:613291		bile acid malabsorption, primary; PBAM|bile acid malabsorption, primary|PBAM	http://purl.obolibrary.org/obo/MONDO_0013214		MESH:C567652|UMLS:C2750087|http://identifiers.org/omim/613291
MONDO:0013211	dilated cardiomyopathy 1FF	biolink:Disease	mondo	MESH:C567654|DOID:0110459|OMIM:613286|ICD10:I42.0|UMLS:C2750091		dilated cardiomyopathy type 1FF|cardiomyopathy, dilated, type 1Ff|CMD1FF|cardiomyopathy, dilated, 1FF; CMD1FF|cardiomyopathy, dilated, 1FF	http://purl.obolibrary.org/obo/MONDO_0013211	A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.42.	MESH:C567654|DOID:0110459|UMLS:C2750091|http://identifiers.org/omim/613286
MONDO:0015874	benign ductal tumor of breast	biolink:Disease	mondo	ICD10:D24|UMLS:CN200479|Orphanet:180284	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015874		ORPHA:180284|UMLS:CN200479
MONDO:0013212	Charcot-Marie-Tooth disease axonal type 2N	biolink:Disease	mondo	GARD:0012429|UMLS:C4304671|UMLS:C2750090|MESH:C567653|Orphanet:228174|ICD10:G60.0|OMIM:613287|DOID:0110177|SCTID:719515001	ordo_disease	AARS Charcot-Marie-Tooth disease type 2|autosomal dominant Charcot-Marie-Tooth disease type 2N|CMT2N|autosomal dominant axonal Charcot-Marie-Tooth disease type 2N|Charcot-Marie-Tooth disease, axonal, type 2N; CMT2N|Charcot-Marie-Tooth disease, axonal, type 2N|Charcot-Marie-Tooth disease type 2N|Charcot-Marie-Tooth neuropathy axonal type 2N|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2N|Charcot-Marie-Tooth neuropathy, axonal, type 2N|Charcot-Marie-Tooth disease type 2 caused by mutation in AARS	http://purl.obolibrary.org/obo/MONDO_0013212	Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow.	MESH:C567653|UMLS:C4304671|DOID:0110177|SNOMEDCT:719515001|UMLS:C2750090|ORPHA:228174|http://identifiers.org/omim/613287
MONDO:0015873	Paget disease of the nipple	biolink:Disease	mondo	GARD:0007303|ONCOTREE:PD|SCTID:403946000|ICD10:C50.0|MedDRA:10033367|UMLS:C1704323|NCIT:C3301|Orphanet:180275	ordo_disease	Paget's disease, mammary|PD|Paget disease of the breast|mammary Paget disease|nipple Paget's disease|Paget disease of the nipple|Paget's disease of the nipple|Paget's disease of nipple	http://purl.obolibrary.org/obo/MONDO_0015873	Paget disease of the nipple describes a rare presentation of breast cancer, seen most frequently in women aged 50-60, manifesting with nipple drainage and itching, erythema, crusty and excoriated nipple, thickened plaques, and hyperpigmentation (less frequently). It is due to tumor cells invading the nipple-areola complex and represents 1-3% of all new breast cancer diagnoses.	ORPHA:180275|SNOMEDCT:403946000|MEDDRA:10033367|MESH:D010144|UMLS:C1704323|NCIT:C3301|UMLS:C0030185
MONDO:0013217	Diamond-Blackfan anemia 10	biolink:Disease	mondo	MESH:C567649|UMLS:C2750080|OMIM:613309		Diamond-Blackfan anemia caused by mutation in RPS26|Diamond-Blackfan anemia 10|Diamond-Blackfan anemia 10; DBA10|DBA10|Diamond-Blackfan Anemia type 10|RPS26 Diamond-Blackfan anemia	http://purl.obolibrary.org/obo/MONDO_0013217	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS26 gene.	http://identifiers.org/omim/613309|MESH:C567649|UMLS:C2750080
CL:0002368	respiratory epithelial cell	biolink:Cell	mondo	BTO:0004533		airway epithelial cell	http://purl.obolibrary.org/obo/CL_0002368	An endo-epithelial cell of the respiratory tract.	
MONDO:0015879	non-syndromic diaphragmatic or thoracic malformation	biolink:Disease	mondo	Orphanet:180776	ordo_group_of_disorders	isolated diaphragmatic or thoracic malformation|nonsyndromic diaphragmatic or thoracic malformation	http://purl.obolibrary.org/obo/MONDO_0015879		ORPHA:180776
MONDO:0013218	exudative vitreoretinopathy 5	biolink:Disease	mondo	MESH:C567648|DOID:0111408|UMLS:C2750079|OMIM:613310		exudative vitreoretinopathy 5|exudative vitreoretinopathy type 5|TSPAN12 exudative vitreoretinopathy|exudative vitreoretinopathy 5; EVR5|exudative vitreoretinopathy caused by mutation in TSPAN12|EVR5	http://purl.obolibrary.org/obo/MONDO_0013218	Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the TSPAN12 gene.	http://identifiers.org/omim/613310|MESH:C567648|DOID:0111408|UMLS:C2750079
HGNC:14897	ITPKC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14897		
MONDO:0013215	autosomal recessive nonsyndromic deafness 79	biolink:Disease	mondo	ICD10:H90.3|DOID:0110526|UMLS:C2750082|MESH:C567651|OMIM:613307	clingen	autosomal recessive nonsyndromic deafness caused by mutation in TPRN|DFNB79|deafness, autosomal recessive type 79|deafness, autosomal recessive 79; DFNB79|autosomal recessive deafness 79|deafness, autosomal recessive 79|TPRN autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 79	http://purl.obolibrary.org/obo/MONDO_0013215	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TPRN gene.	MESH:C567651|DOID:0110526|UMLS:C2750082|http://identifiers.org/omim/613307
MONDO:0015878	obsolete rare disease with autism	biolink:Disease	mondo	UMLS:CN200486|Orphanet:180772	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015878		UMLS:CN200486|ORPHA:180772
MONDO:0013216	Diamond-Blackfan anemia 9	biolink:Disease	mondo	UMLS:C2750081|MESH:C567650|OMIM:613308		DBA9|RPS10 Diamond-Blackfan anemia|Diamond-Blackfan Anemia type 9|Diamond-Blackfan anemia caused by mutation in RPS10|Diamond-Blackfan anemia 9|Diamond-Blackfan anemia 9; DBA9	http://purl.obolibrary.org/obo/MONDO_0013216	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS10 gene.	http://identifiers.org/omim/613308|MESH:C567650|UMLS:C2750081
MONDO:0015877	malformative syndrome with dentinogenesis imperfecta	biolink:Disease	mondo	UMLS:CN200485|Orphanet:180766	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015877		UMLS:CN200485|ORPHA:180766
CHEBI:13643	glycol	biolink:ChemicalSubstance	mondo			Glykol|glycols	http://purl.obolibrary.org/obo/CHEBI_13643	A diol in which the two hydroxy groups are on different carbon atoms, usually but not necessarily adjacent.	
GO:0035082	axoneme assembly	biolink:OntologyClass	mondo			ciliary axoneme assembly|cilium axoneme biogenesis|flagellar axoneme assembly|cilium axoneme assembly|axoneme biogenesis|flagellum axoneme assembly	http://purl.obolibrary.org/obo/GO_0035082	The assembly and organization of an axoneme, the bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements.	
MONDO:0001219	serous conjunctivitis except viral	biolink:Disease	mondo	ICD9:372.01|DOID:11197|ICD10:H10.23|SCTID:9824006|COHD:375266|UMLS:C0155142		serous conjunctivitis, except viral	http://purl.obolibrary.org/obo/MONDO_0001219		SNOMEDCT:9824006|UMLS:C0155142|DOID:11197
MONDO:0001218	acute laryngopharyngitis	biolink:Disease	mondo	ICD9:465.0|UMLS:C0155817|ICD10:J06.0|DOID:11195|COHD:23798|SCTID:55355000			http://purl.obolibrary.org/obo/MONDO_0001218	An upper respiratory tract disease which involves inflammation of both larynx and pharynx.	SNOMEDCT:55355000|DOID:11195|UMLS:C0155817
MONDO:0015872	giant adenofibroma of the breast	biolink:Disease	mondo	ICD10:D24|Orphanet:180267|UMLS:CN200476	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015872	Giant adenofibroma of the breast is a rare, benign, fibroepithelial tumor which usually manifests as a unilateral, painless, firm, mobile, slow-growing mass in the breast that measures more than 5 cm. It can be associated with significant asymmetry and/or deformity of the breast and hormonal changes (e.g. puberty, pregnancy, oral contraceptives) can lead to its marked enlargement.	ORPHA:180267|UMLS:CN200476
FOODON:03420236	protein extract, concentrate or isolate	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03420236	Extract, concentrate or isolate high in protein; may contain amino acids, polypeptides and enzymes.	
MONDO:0015871	benign breast phyllodes tumor	biolink:Disease	mondo	ICD10:D48.6|ONCOTREE:BPT|MedDRA:10011813|NCIT:C5196|SCTID:720344007|UMLS:C1332533|DOID:1631|Orphanet:180261	ordo_disease	phyllodes tumor, benign (morphologic abnormality)|BPT|cystosarcoma phyllodes, NOS|benign phyllodes tumor of breast|cystosarcoma phylloide|breast phyllodes tumor, benign|benign phyllodes tumor of the breast|cystosarcoma phyllodes NOS (morphologic abnormality)|phylloide tumor of the breast|breast benign phyllodes neoplasm|benign breast phyllodes tumor|phyllodes neoplasm|cystosarcoma phyllode|phyllode tumor of the breast|cystosarcoma phylloide of the breast|cystosarcoma phyllodes|benign phyllodes neoplasm of breast|benign phyllodes neoplasm of the breast|cystosarcoma phyllode of the breast|phyllodes tumor, benign|benign phyllodes neoplasm|benign cystosarcoma phyllodes	http://purl.obolibrary.org/obo/MONDO_0015871	A usually unilateral, benign and well circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a cellular, monomorphic spindle cell mesenchymal component. Mitoses are rare. Necrotic changes may be present in large tumors.	SNOMEDCT:720344007|NCIT:C5196|UMLS:C0010701|DOID:1631|ORPHA:180261|UMLS:C1332533|MEDDRA:10011813
MONDO:0013210	autosomal recessive nonsyndromic deafness 25	biolink:Disease	mondo	UMLS:C1414017|ICD10:H90.3|DOID:0110483|OMIM:613285	clingen	autosomal recessive nonsyndromic deafness caused by mutation in GRXCR1|autosomal recessive nonsyndromic deafness type 25|deafness, autosomal recessive 25; DFNB25|DFNB25|deafness, autosomal recessive type 25|autosomal recessive deafness 25|GRXCR1 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 25	http://purl.obolibrary.org/obo/MONDO_0013210	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR1 gene.	DOID:0110483|UMLS:C1414017|http://identifiers.org/omim/613285
FOODON:03420237	floret or flower	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03420237	The pigmented blossom of a plant that contains the reproductive  organs; a floret is a single flower of a multiple flowered inflorescence. Also includes flower buds.	
MONDO:0015870	obsolete rare malignant breast tumor	biolink:Disease	mondo	Orphanet:180257|UMLS:CN200474	ordo_group_of_disorders|obsoletion_candidate	rare breast cancer	http://purl.obolibrary.org/obo/MONDO_0015870	Any of the forms of breast cancer that have a rare incidence.	UMLS:CN200474|ORPHA:180257
UBERON:8000006	left side of back	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_8000006	Left part of the organism dorsal to a horizontal plane and bounded on one side by the same transverse plane.	
UBERON:8000007	right side of back	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_8000007	Right part of the organism dorsal to a horizontal plane and bounded on one side by the same transverse plane.	
MONDO:0001235	appendix cancer	biolink:Disease	mondo	NCIT:C9333|DOID:11239|ICD9:153.5|ICD10:C18.1|UMLS:C0496779|COHD:443383|SCTID:363411007		cancer of the appendix|malignant neoplasm of vermiform appendix|malignant neoplasm of appendix vermiformis|malignant tumor of appendix|vermiform appendix cancer|malignant appendix neoplasm|malignant tumor of the appendix|malignant neoplasm of appendix|malignant vermiform appendix neoplasm|cancer of vermiform appendix|malignant appendix tumor|malignant neoplasm of the appendix	http://purl.obolibrary.org/obo/MONDO_0001235	A malignant neoplasm involving the vermiform appendix	SNOMEDCT:363411007|NCIT:C9333|DOID:11239|UMLS:C0496779
MONDO:0003898	pediatric myxoid chondrosarcoma	biolink:Disease	mondo	NCIT:C27377|UMLS:C1332984|DOID:6494		pediatric myxoid chondrosarcoma|childhood myxoid chondrosarcoma|myxoid chondrosarcoma of childhood	http://purl.obolibrary.org/obo/MONDO_0003898	A myxoid chondrosarcoma occurring in children.	UMLS:C1332984|NCIT:C27377|DOID:6494
MONDO:0001234	adhesive otitis media	biolink:Disease	mondo	ICD10:H74.1|COHD:375820|ICD9:385.10|DOID:11235|ICD9:385.1|UMLS:C0155478|SCTID:7699004		adhesive middle ear disease|chronic adhesive otitis media|adhesive otitis media|fibrotic adhesive otitis media	http://purl.obolibrary.org/obo/MONDO_0001234	An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear.	UMLS:C0155478|DOID:11235|SNOMEDCT:7699004
MONDO:0003899	adult myxoid chondrosarcoma	biolink:Disease	mondo	UMLS:C1332209|NCIT:C27378|DOID:6495		adult myxoid chondrosarcoma|myxoid chondrosarcoma of adults	http://purl.obolibrary.org/obo/MONDO_0003899	A myxoid chondrosarcoma occurring in adults.	NCIT:C27378|DOID:6495|UMLS:C1332209
MONDO:0001233	orbital tenonitis	biolink:Disease	mondo	SCTID:8976003|COHD:141022|DOID:11233|UMLS:C0155259|ICD9:376.04		tenonitis	http://purl.obolibrary.org/obo/MONDO_0001233		UMLS:C0155259|DOID:11233|SNOMEDCT:8976003
HGNC:26887	TAPT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26887		
MONDO:0001232	orbital osteomyelitis	biolink:Disease	mondo	SCTID:65875003|ICD10:H05.02|DOID:11232|ICD9:376.03|UMLS:C0155258		orbital osteomyelitis	http://purl.obolibrary.org/obo/MONDO_0001232		UMLS:C0155258|DOID:11232|SNOMEDCT:65875003
GO:0106064	regulation of cobalamin metabolic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0106064	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom.	
MONDO:0003894	mediastinal melanocytic neurilemmoma	biolink:Disease	mondo	DOID:6484|UMLS:C1334668|NCIT:C6635		melanocytic schwannoma of mediastinum|melanocytic schwannoma of the mediastinum|mediastinal melanocytic schwannoma|melanocytic neurilemmoma of the mediastinum|melanocytic neurilemmoma of mediastinum|mediastinal melanotic schwannoma	http://purl.obolibrary.org/obo/MONDO_0003894	A melanotic schwannoma that affects the mediastinum.	NCIT:C6635|UMLS:C1334668|DOID:6484
MONDO:0001239	anemia of prematurity	biolink:Disease	mondo	UMLS:C0158996|NCIT:C97167|ICD9:776.6|COHD:432452|DOID:11243|SCTID:47100003|ICD10:P61.2		AOP	http://purl.obolibrary.org/obo/MONDO_0001239	A blood disorder characterized by low hemoglobin levels in premature neonates that usually spontaneously resolves within 3-6 months post birth. A combination of factors including the transition from the liver to the bone marrow for erythropoiesis in a neonate, blood loss experienced during delivery, the shortened life span of fetal blood cells, and an acclimation to a relatively hyperoxic environment outside the womb can predispose a neonate to this condition.	SNOMEDCT:47100003|UMLS:C0158996|DOID:11243|NCIT:C97167
MONDO:0003895	periosteal osteogenic sarcoma	biolink:Disease	mondo	NCIT:C8970|DOID:6489|ICDO:9193/3|UMLS:C1377843|ONCOTREE:PEOS		periosteal osteosarcoma|PEOS|periosteal osteogenic sarcoma|juxtacortical chondroblastic osteosarcoma|periosteal osteosarcoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003895	An intermediate grade malignant bone-forming mesenchymal neoplasm with chondroblastic differentiation. It arises from the surface of the bone and affects the diaphysis or diaphyseal- metaphyseal portion of the long bones. A painless mass or swelling is the most common clinical sign. It is associated with a better prognosis than conventional osteosarcoma.	NCIT:C8970|UMLS:C1377843|DOID:6489
MONDO:0001238	polycythemia neonatorum	biolink:Disease	mondo	ICD10:P61.1|COHD:439140|SCTID:32984002|ICD9:776.4|NCIT:C27069|UMLS:C0272153|DOID:11242		plethora of newborn|neonatal polycythemia|polycythemia neonatorum|polycythemia of the newborn	http://purl.obolibrary.org/obo/MONDO_0001238	A condition in which the red blood cell level is greater than established reference ranges in a newborn.	NCIT:C27069|DOID:11242|SNOMEDCT:32984002|UMLS:C0272153
MONDO:0003896	breast capillary hemangioma	biolink:Disease	mondo	NCIT:C5210|UMLS:C1332619|DOID:6491		breast capillary angioma|capillary angioma of breast|breast capillary hemangioma|capillary angioma of the breast|capillary hemangioma of breast|capillary hemangioma of the breast	http://purl.obolibrary.org/obo/MONDO_0003896	A capillary hemangioma arising from the breast.	UMLS:C1332619|NCIT:C5210|DOID:6491
MONDO:0001237	appendix lymphoma	biolink:Disease	mondo	NCIT:C5513|UMLS:C1332328|DOID:11241		lymphoma of the appendix|primary appendix lymphoma|appendiceal lymphoma|lymphoma of vermiform appendix|vermiform appendix lymphoma|appendix lymphoma|lymphoma of appendix	http://purl.obolibrary.org/obo/MONDO_0001237	A lymphoma arising from the appendix. The majority of lymphomas affecting the appendix represent disease extension from the intestinal wall; primary lymphomas of the appendix are rare.	UMLS:C1332328|DOID:11241|NCIT:C5513
MONDO:0003897	breast epithelioid hemangioma	biolink:Disease	mondo	UMLS:C1332627|NCIT:C5211|DOID:6492		histiocytoid hemangioma of the breast|epithelioid breast hemangioma|epithelioid hemangioma of breast|epithelioid hemangioma of the breast|breast epithelioid hemangioma|histiocytoid breast hemangioma|breast histiocytoid hemangioma|histiocytoid hemangioma of breast	http://purl.obolibrary.org/obo/MONDO_0003897	A hemangioma characterized by the presence of epithelioid endothelial cells, arising from the breast.	UMLS:C1332627|NCIT:C5211|DOID:6492
UBERON:0012490	muscle layer of anal canal	biolink:AnatomicalEntity	mondo			muscular coat of anal canal|anal muscularis propria|muscularis externa of anal canal|anal canal muscularis propria|muscularis propria of anal canal|muscular layer of anal canal	http://purl.obolibrary.org/obo/UBERON_0012490	A muscular coat that is part of a anal canal.	
HGNC:24229	CIDEC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24229		
MONDO:0001236	appendiceal neoplasm	biolink:Disease	mondo	NCIT:C4434|UMLS:C0003614|EFO:0003880|SCTID:126846004|MESH:D001063|DOID:11240		neoplasm of appendix|vermiform appendix neoplasm|appendix tumor|neoplasm of the appendix|tumor of vermiform appendix|appendix neoplasm|vermiform appendix neoplasm (disease)|tumor of appendix|neoplasm of vermiform appendix|tumor of the appendix|vermiform appendix tumor	http://purl.obolibrary.org/obo/MONDO_0001236	A benign or malignant neoplasm involving the appendix.	DOID:11240|NCIT:C4434|UMLS:C0003614|MESH:D001063|SNOMEDCT:126846004
MONDO:0003890	infiltrating bladder urothelial carcinoma	biolink:Disease	mondo	NCIT:C27885|DOID:6477|UMLS:C1334281		infiltrating transitional cell carcinoma of the urinary bladder|invasive transitional cell carcinoma of the urinary bladder|invasive bladder transitional cell carcinoma|invasive bladder urothelial carcinoma|infiltrating bladder urothelial carcinoma|invasive bladder transitional cell carcinoma|infiltrating transitional cell carcinoma of the urinary bladder	http://purl.obolibrary.org/obo/MONDO_0003890	An invasive transitional cell carcinoma that arises from the urinary bladder urothelium.	NCIT:C27885|UMLS:C1334281|DOID:6477
MONDO:0003891	bladder signet ring cell adenocarcinoma	biolink:Disease	mondo	UMLS:C1332563|DOID:6481|NCIT:C6163		signet Ring cell adenocarcinoma of the bladder|signet Ring cell adenocarcinoma of bladder|urinary bladder signet ring cell carcinoma|urinary bladder signet Ring adenocarcinoma|bladder signet ring cell adenocarcinoma|signet Ring cell adenocarcinoma of the urinary bladder|signet ring cell adenocarcinoma of bladder|signet Ring cell adenocarcinoma of urinary bladder	http://purl.obolibrary.org/obo/MONDO_0003891	A signet ring cell carcinoma that involves the urinary bladder.	NCIT:C6163|DOID:6481|UMLS:C1332563
MONDO:0003892	acinar lung adenocarcinoma	biolink:Disease	mondo	DOID:6482|NCIT:C5649|UMLS:C1332137		lung acinar adenocarcinoma|acinar adenocarcinoma of the lung|acinar lung adenocarcinoma|acinar adenocarcinoma of lung	http://purl.obolibrary.org/obo/MONDO_0003892	A morphologic variant of lung adenocarcinoma characterized by the presence of acinar structures composed of columnar or cuboidal cells. (NCI05)	NCIT:C5649|DOID:6482|UMLS:C1332137
MONDO:0015859	rare non-malformative uterovaginal or vulvovaginal disease	biolink:Disease	mondo	UMLS:CN200461|Orphanet:180205	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015859		ORPHA:180205|UMLS:CN200461
MONDO:0003893	rete testis adenoma	biolink:Disease	mondo	DOID:6483|UMLS:C1514910|NCIT:C39956		adenoma, rete testis, benign|rete testis adenoma	http://purl.obolibrary.org/obo/MONDO_0003893	A benign epithelial neoplasm arising from the rete testis.	NCIT:C39956|DOID:6483|UMLS:C1514910
MONDO:0001231	orbital periostitis	biolink:Disease	mondo	UMLS:C0155257|SCTID:65974003|ICD10:H05.03|DOID:11231|ICD9:376.02|COHD:442634			http://purl.obolibrary.org/obo/MONDO_0001231		SNOMEDCT:65974003|UMLS:C0155257|DOID:11231
MONDO:0001230	acute orbital inflammation	biolink:Disease	mondo	ICD9:376.0|COHD:433486|ICD10:H05.00|ICD10:H05.0|DOID:11230|SCTID:20551005|ICD9:376.00		acute inflammation of orbit	http://purl.obolibrary.org/obo/MONDO_0001230		DOID:11230|SNOMEDCT:20551005
UBERON:0012499	serosa of uterine tube	biolink:AnatomicalEntity	mondo			serosa of fallopian tube|serosa of oviduct|tunica serosa (tuba uterina)|uterine tubal serosa|uterine tube serosa|tunica serosa tubae uterinae|serous coat of uterine tube	http://purl.obolibrary.org/obo/UBERON_0012499	A serous membrane that is part of a fallopian tube.	
UBERON:0012498	serosa of appendix	biolink:AnatomicalEntity	mondo			serosa of vermiform appendix|visceral peritoneum of vermiform appendix|appendix serosa|appendiceal serosa	http://purl.obolibrary.org/obo/UBERON_0012498	A serous membrane that is part of a vermiform appendix.	
MONDO:0015865	obsolete benign tumor of fallopian tubes	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015865		
MONDO:0013202	Waardenburg syndrome type 4C	biolink:Disease	mondo	MESH:C567679|OMIM:613266|DOID:0110955|UMLS:C2750452		Waardenburg syndrome, type 4C|Waardenburg syndrome with Hirschsprung disease, type 4C|Waardenburg syndrome with Hirschsprung disease type 4C|WS4C|Waardenburg syndrome type IVC|Waardenburg syndrome, type 4C; WS4C	http://purl.obolibrary.org/obo/MONDO_0013202	A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in SOX10.	MESH:C567679|UMLS:C2750452|DOID:0110955|http://identifiers.org/omim/613266
MONDO:0013203	corneal dystrophy, Fuchs endothelial, 3	biolink:Disease	mondo	OMIM:613267|UMLS:C2750451		corneal dystrophy, Fuchs endothelial, late-onset|corneal dystrophy, Fuchs endothelial, 3; FECD3|Fcd2 locus|corneal dystrophy, Fuchs endothelial, 3|corneal dystrophy, Fuchs endothelial, type 3|TCF4 Fuchs' endothelial dystrophy|Fuchs' endothelial dystrophy caused by mutation in TCF4|FECD3	http://purl.obolibrary.org/obo/MONDO_0013203	Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the TCF4 gene.	http://identifiers.org/omim/613267|UMLS:C2750451
MONDO:0015864	mixed germ cell tumor	biolink:Disease	mondo	NCIT:C4290|ICDO:9085/3|Orphanet:180234|UMLS:C0334524|DOID:3306	ordo_disease	combined germ cell tumor|mixed teratoma and seminoma|combined germ cell neoplasm|mixed germ cell cancer|mixed germ cell neoplasm|mixed germ cell tumor|mixed germ cell tumour	http://purl.obolibrary.org/obo/MONDO_0015864	A malignant germ cell tumor characterized by the presence of at least two different germ cell components. The different germ cell components include choriocarcinoma, embryonal carcinoma, yolk sac tumor, teratoma, and seminoma. It occurs in the ovary, testis, and extragonadal sites including central nervous system and mediastinum.	ORPHA:180234|DOID:3306|NCIT:C4290|UMLS:C0334524
MONDO:0013200	hypertrophic cardiomyopathy 15	biolink:Disease	mondo	UMLS:C2750459|MESH:C567681|OMIM:613255|DOID:0110321		cardiomyopathy, familial hypertrophic, 15; CMH15|CMH15|cardiomyopathy, familial hypertrophic, type 15|VCL hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, 15|cardiomyopathy familial hypertrophic 15|hypertrophic cardiomyopathy type 15|hypertrophic cardiomyopathy caused by mutation in VCL	http://purl.obolibrary.org/obo/MONDO_0013200	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the VCL gene.	MESH:C567681|DOID:0110321|UMLS:C2750459|http://identifiers.org/omim/613255
MONDO:0015863	polyembryoma	biolink:Disease	mondo	UMLS:C0334518|Orphanet:180229|GARD:0009621|NCIT:C66776	gard_rare|ordo_disease	gonadal polyembryoma	http://purl.obolibrary.org/obo/MONDO_0015863	Polyembryoma is a type oftumor that develops from the cells of the gonads (testes in men or ovaries in women). Such tumors are called germ cell tumors. Polyembryomas have a distinctivelook because they are composed of many parts that are shaped like embryos, one of the earliest stages of a developing human during pregnancy. Symptoms of a polyembryoma may include an unusual bump or mass in the abdomen which can cause pain in some individuals; puberty at an unusually young age (known as precocious puberty); or irregularities in a female's menstruation. Treatment begins with surgery and may be followed by chemotherapy and/or radiation therapy. The cause of polyembryoma is not yet known.	ORPHA:180229|UMLS:C0334518|NCIT:C66776
MONDO:0013201	Waardenburg syndrome type 4B	biolink:Disease	mondo	UMLS:C2750457|OMIM:613265|DOID:0110954|MESH:C567680		Waardenburg syndrome, type 4B; WS4B|Waardenburg syndrome, type 4B|Waardenburg syndrome with Hirschsprung disease type 4B|EDN3 Waardenburg syndrome|WS4B|Waardenburg syndrome type IVB|Waardenburg syndrome, type 4B, with Hirschsprung disease|Waardenburg syndrome caused by mutation in EDN3	http://purl.obolibrary.org/obo/MONDO_0013201	A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDN3.	MESH:C567680|DOID:0110954|UMLS:C2750457|http://identifiers.org/omim/613265
MONDO:0015862	obsolete embryonal carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015862		
MONDO:0015869	obsolete rare benign breast tumor	biolink:Disease	mondo	Orphanet:180253	obsoletion_candidate|ordo_group_of_disorders	rare breast benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0015869	Any of the forms of breast benign neoplasm that have a rare incidence.	ORPHA:180253
MONDO:0013206	corneal dystrophy, Fuchs endothelial, 6	biolink:Disease	mondo	OMIM:613270|UMLS:C2750448		FECD6|ZEB1 Fuchs' endothelial dystrophy|corneal dystrophy, Fuchs endothelial, late-onset|corneal dystrophy, Fuchs endothelial, 6; FECD6|corneal dystrophy, Fuchs endothelial, 6|corneal dystrophy, Fuchs endothelial, type 6|Fuchs' endothelial dystrophy caused by mutation in ZEB1	http://purl.obolibrary.org/obo/MONDO_0013206	Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the ZEB1 gene.	http://identifiers.org/omim/613270|UMLS:C2750448
MONDO:0015868	obsolete rare breast tumor	biolink:Disease	mondo	Orphanet:180250	obsoletion_candidate|ordo_group_of_disorders	rare breast neoplasm|rare breast cancer	http://purl.obolibrary.org/obo/MONDO_0015868	Any of the forms of breast neoplasm that have a rare incidence.	ORPHA:180250
MONDO:0013207	FECD7	biolink:Disease	mondo	OMIM:613271|UMLS:C2750447		corneal dystrophy, Fuchs endothelial, 7|Fcd4 locus|corneal dystrophy, Fuchs endothelial, late-onset|corneal dystrophy, Fuchs endothelial, 7; FECD7|FECD7	http://purl.obolibrary.org/obo/MONDO_0013207		http://identifiers.org/omim/613271|UMLS:C2750447
MONDO:0015867	vaginal carcinoma	biolink:Disease	mondo	ICD10:C52|NCIT:C3917|UMLS:C0262659|DOID:0050918|Orphanet:180247	ordo_disease	carcinoma of vagina|vagina carcinoma|carcinoma of the vagina|vagina cancer|vaginal cancer, NOS|cancer of vagina|cancer of the vagina|vaginal carcinoma|vaginal malignant epithelial tumor|vaginal cancer	http://purl.obolibrary.org/obo/MONDO_0015867	A carcinoma arising from the vaginal epithelium. The majority of vaginal carcinomas are squamous cell carcinomas.	NCIT:C3917|ORPHA:180247|DOID:0050918|UMLS:C0262659
MONDO:0013204	corneal dystrophy, Fuchs endothelial, 4	biolink:Disease	mondo	OMIM:613268|UMLS:C2750450		corneal dystrophy, Fuchs endothelial, late-onset|corneal dystrophy, Fuchs endothelial, 4; FECD4|SLC4A11 Fuchs' endothelial dystrophy|corneal dystrophy, Fuchs endothelial, 4|corneal dystrophy, Fuchs endothelial, type 4|Fuchs' endothelial dystrophy caused by mutation in SLC4A11|FECD4	http://purl.obolibrary.org/obo/MONDO_0013204	Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the SLC4A11 gene.	http://identifiers.org/omim/613268|UMLS:C2750450
MONDO:0015866	obsolete malignant tumor of fallopian tubes	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015866		
MONDO:0013205	FECD5	biolink:Disease	mondo	UMLS:C2750449|OMIM:613269		corneal dystrophy, Fuchs endothelial, late-onset|Fcd3 locus|corneal dystrophy, Fuchs endothelial, 5; FECD5|FECD5|corneal dystrophy, Fuchs endothelial, 5	http://purl.obolibrary.org/obo/MONDO_0013205		http://identifiers.org/omim/613269|UMLS:C2750449
NCBITaxon:2072716	Spiruromorpha	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2072716		
MONDO:0001229	small intestine diverticulitis	biolink:Disease	mondo	SCTID:56165008|UMLS:C0156164|ICD9:562.02|COHD:193239|DOID:11223|ICD9:562.01		diverticulosis of small intestine with hemorrhage|small intestine diverticulitis|diverticulitis of small intestine	http://purl.obolibrary.org/obo/MONDO_0001229	A diverticulitis that involves the small intestine.	UMLS:C0156164|DOID:11223|SNOMEDCT:56165008
MONDO:0015861	rare uterine adnexal tumor	biolink:Disease	mondo	UMLS:CN200464|Orphanet:180220	ordo_group_of_disorders|obsoletion_candidate	syn: Rare tumor of ovaries and fallopian tubes	http://purl.obolibrary.org/obo/MONDO_0015861		UMLS:CN200464|ORPHA:180220
CL:0002371	somatic cell	biolink:Cell	mondo	WBbt:0008378|FMA:72300|BTO:0001268	_upper_level		http://purl.obolibrary.org/obo/CL_0002371	A cell of an organism that does not pass on its genetic material to the organism's offspring (i.e. a non-germ line cell).	
CL:0002370	respiratory goblet cell	biolink:Cell	mondo			respiratory mucosa goblet cells	http://purl.obolibrary.org/obo/CL_0002370	A simple columnar epithelial cell that secretes mucin. Rough endoplasmic reticulum, mitochondria, the nucleus, and other organelles are concentrated in the basal portion. The apical plasma membrane projects microvilli to increase surface area for secretion.	
MONDO:0015860	anomaly of puberty or/and menstrual cycle	biolink:Disease	mondo	Orphanet:180208	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015860		ORPHA:180208
FOODON:03420228	extract, concentrate or isolate of plant or animal	biolink:OntologyClass	mondo	http://www.langual.org/langual_thesaurus.asp?termid=C0228			http://purl.obolibrary.org/obo/FOODON_03420228	A physical-chemical component separated from the food source or its parts by extraction, centrifugation, filtration, heat processing, expressing or a similar process. The separated component may be converted through further processing. If this is done, the final substance is indexed. A water-extracted component may remain in aqueous dispersion. The extract, concentrate or isolate is indexed in preference to the anatomic part from which it is derived. For example, peanut oil is indexed under *PEANUT* combined wih *FAT OR OIL* rather than with *SEED OR KERNEL*. On the other hand, fruit and vegetable juices can be indexed under *FRUIT JUICE OR NECTAR* or *VEGETABLE JUICE* (A. PRODUCT TYPE); therefore the anatomic part of the plant should be indexed.	
NCBITaxon:480118	Eremoneura	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_480118		
NCBITaxon:480117	Cyclorrhapha	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_480117		
MONDO:0001289	obsolete endometriosis of ovary	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001289		
MONDO:0001288	endometriosis of rectovaginal septum and vagina	biolink:Disease	mondo	NCIT:C128064|DOID:11431|UMLS:C0156346|ICD10:N80.4|SCTID:198253003|ICD9:617.4|COHD:196739		vaginal endometriosis	http://purl.obolibrary.org/obo/MONDO_0001288	Endometriosis that affects the vagina. It is characterized by the presence of endometrial stroma with or without endometrial-type glands in the vagina.	DOID:11431|NCIT:C128064|UMLS:C0156346|SNOMEDCT:198253003
MONDO:0001287	endometriosis in cutaneous scar	biolink:Disease	mondo	DOID:11430|COHD:139882|SCTID:53913001|ICD10:N80.6|UMLS:C0156348|ICD9:617.6		scar endometriosis|endometriosis in scar of skin	http://purl.obolibrary.org/obo/MONDO_0001287		DOID:11430|SNOMEDCT:53913001|UMLS:C0156348
MONDO:0001282	fallopian tube endometriosis	biolink:Disease	mondo	NCIT:C26763|COHD:194420|UMLS:C0014177|DOID:11424|ICD10:N80.2|ICD9:617.2|SCTID:22611009		endometriosis (disease) of fallopian tube|fallopian tube endometriosis|fallopian tube endometriosis (disease)|endometriosis of fallopian tube	http://purl.obolibrary.org/obo/MONDO_0001282	Endometriosis that affects the fallopian tube. Symptoms include infertility, pelvic pain, painful menstruation, and painful intercourse.	UMLS:C0014177|SNOMEDCT:22611009|DOID:11424|NCIT:C26763
MONDO:0001281	alternating exotropia	biolink:Disease	mondo	UMLS:C0152207|SCTID:37214009|ICD9:378.15|DOID:1142|ICD10:H50.15|COHD:377561			http://purl.obolibrary.org/obo/MONDO_0001281	A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as the affected eye will deviate laterally upon attempted forward gaze. An exotropia occurs due to the relatively unopposed force exerted on the eye by the lateral rectus muscle, which pulls the eye in an outward direction.	UMLS:C0152207|SNOMEDCT:37214009|DOID:1142
MONDO:0001280	choroiditis	biolink:Disease	mondo	NCIT:C35111|Orphanet:280892|ICD10:H30.2|UMLS:C0042167|ICD10:H30.1|ICD10:H30.0|DOID:11406|GARD:0006062|SCTID:16553002|MESH:D002833|MedDRA:10036370|ICD10:H30.9|UMLS:C0008526|HP:0012123|ICD10:H30.8	ordo_group_of_disorders	posterior uveitis|choroiditis|Choroiditides|posterior uveitis (disease)	http://purl.obolibrary.org/obo/MONDO_0001280	An inflammatory process that affects the choroid.	NCIT:C35111|SNOMEDCT:16553002|MEDDRA:10036370|UMLS:C0042167|MESH:D002833|UMLS:C0008526|DOID:11406|ORPHA:280892
HP:0032158	Unusual infection by anatomical site	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0032158	An unusual infection classified by the affected body part.	
MONDO:0001286	exotropia	biolink:Disease	mondo	SCTID:399252000|COHD:377294|UMLS:C0015310|ICD9:378.10|ICD10:H50.1|MESH:D005099|DOID:1143|ICD9:378.1|ICD10:H50.10|NCIT:C34601		divergent concomitant strabismus|divergent strabismus	http://purl.obolibrary.org/obo/MONDO_0001286	A form of strabismus in which the eyes are deviated laterally.	SNOMEDCT:399252000|UMLS:C0015310|NCIT:C34601|MESH:D005099|DOID:1143
MONDO:0001285	endometriosis of pelvic peritoneum	biolink:Disease	mondo	SCTID:198251001|ICD9:617.3|DOID:11429|COHD:197033|ICD10:N80.3|UMLS:C0156345			http://purl.obolibrary.org/obo/MONDO_0001285		UMLS:C0156345|SNOMEDCT:198251001|DOID:11429
MONDO:0001284	endometriosis of intestine	biolink:Disease	mondo	ICD9:617.5|COHD:194421|DOID:11428|SCTID:5562006|UMLS:C0156347|ICD10:N80.5		intestine endometriosis (disease)|endometriosis (disease) of intestine	http://purl.obolibrary.org/obo/MONDO_0001284	Endometriosis that affects the intesines.	SNOMEDCT:5562006|UMLS:C0156347|DOID:11428
HP:0032154	Aphthous ulcer	biolink:PhenotypicFeature	mondo			Canker sore	http://purl.obolibrary.org/obo/HP_0032154	Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.	
MONDO:0001283	endosalpingiosis	biolink:Disease	mondo	DOID:11427|SCTID:55850004|UMLS:C0269106|NCIT:C40121		endosalpingiosis	http://purl.obolibrary.org/obo/MONDO_0001283	A benign pathologic process characterized by the transformation of the mesothelium into fallopian tube epithelium. It occurs in the peritoneum and may affect the serosa surface of the uterus and the adnexa. It may be asymptomatic or present as pelvic pain.	NCIT:C40121|SNOMEDCT:55850004|DOID:11427|UMLS:C0269106
MONDO:0013279	long QT syndrome 13	biolink:Disease	mondo	UMLS:C3150733|ICD10:I45.8|OMIM:613485|DOID:0110654		KCNJ5 long QT syndrome|long QT syndrome type 13|long QT syndrome caused by mutation in KCNJ5|long QT syndrome 13|LQT13|long QT syndrome 13; LQT13	http://purl.obolibrary.org/obo/MONDO_0013279	Any long QT syndrome in which the cause of the disease is a mutation in the KCNJ5 gene.	http://identifiers.org/omim/613485|UMLS:C3150733|DOID:0110654
CL:0002344	CD56-negative, CD161-positive immature natural killer cell, human	biolink:Cell	mondo			p-NK	http://purl.obolibrary.org/obo/CL_0002344	A natural killer cell that is developmentally immature, has the phenotype CD34-negative, CD56-negative, CD117-positive, CD122-positive,and CD161-positive.	
MONDO:0013277	developmental and epileptic encephalopathy, 5	biolink:Disease	mondo	DOID:0080438|UMLS:C3150731|OMIM:613477		epileptic encephalopathy, early infantile, 5; EIEE5|early infantile epileptic encephalopathy caused by mutation in SPTAN1|epileptic encephalopathy, early infantile, type 5|DEE5|SPTAN1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 5|EIEE5	http://purl.obolibrary.org/obo/MONDO_0013277	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SPTAN1 gene.	http://identifiers.org/omim/613477|DOID:0080438|UMLS:C3150731
MONDO:0013278	lymphedema, hereditary, 1C	biolink:Disease	mondo	DOID:0070208|OMIM:613480|UMLS:C3150732		LMPH1C|lymphedema, hereditary, IC|GJC2 hereditary lymphedema|lymphedema, hereditary, type 1C|hereditary lymphedema caused by mutation in GJC2|lymphedema, hereditary, IC; LMPH1C	http://purl.obolibrary.org/obo/MONDO_0013278	Any hereditary lymphedema in which the cause of the disease is a mutation in the GJC2 gene.	DOID:0070208|http://identifiers.org/omim/613480|UMLS:C3150732
MONDO:0013271	frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome	biolink:Disease	mondo	OMIM:613456|Orphanet:306542|GARD:0012640|UMLS:C3150706	gard_rare|ordo_malformation_syndrome	frontonasal dysplasia type 3|frontonasal dysplasia 3; FND3|ALX1-related frontonasal dysplasia|FND3|frontonasal dysplasia 3	http://purl.obolibrary.org/obo/MONDO_0013271		ORPHA:306542|http://identifiers.org/omim/613456|UMLS:C3150706
MONDO:0013272	chromosome 14q11-q22 deletion syndrome	biolink:Disease	mondo	ICD10:Q93.5|Orphanet:261120|OMIM:613457|UMLS:C3150707|SCTID:719047001|UMLS:C4304999|DOID:0060392	ordo_malformation_syndrome	14q11.2 microdeletion syndrome|Del(14)(q11.2)|monosomy 14q11.2|chromosome 14q11-q22 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0013272	14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.	ORPHA:261120|http://identifiers.org/omim/613457|SNOMEDCT:719047001|UMLS:C4304999|UMLS:C3150707|DOID:0060392
HGNC:14872	ASPN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14872		
MONDO:0013270	Rett syndrome, congenital variant	biolink:Disease	mondo	OMIM:613454|UMLS:C3150705		Rett syndrome, congenital variant	http://purl.obolibrary.org/obo/MONDO_0013270		http://identifiers.org/omim/613454|UMLS:C3150705
MONDO:0013275	hemolytic anemia due to glucophosphate isomerase deficiency	biolink:Disease	mondo	Orphanet:712|GARD:0002502|UMLS:C3150730|ICD10:D55.2|OMIM:613470|UMLS:CN072763	gard_rare|ordo_disease	glucosephosphate isomerase deficiency|hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency	http://purl.obolibrary.org/obo/MONDO_0013275	Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia.	http://identifiers.org/omim/613470|ORPHA:712|UMLS:C3150730|UMLS:CN072763
MONDO:0013276	Reynolds syndrome	biolink:Disease	mondo	Orphanet:779|ICD10:K74.3|UMLS:C0748397|SCTID:715401008|OMIM:613471|ICD10:L94.0|GARD:0004697	gard_rare|ordo_disease	primary biliary cirrhosis and systemic scleroderma|primary biliary cirrhosis, Scleroderma, Raynaud disease, and telangiectasia|Reynolds syndrome	http://purl.obolibrary.org/obo/MONDO_0013276	Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc).	SNOMEDCT:715401008|http://identifiers.org/omim/613471|UMLS:C0748397|ORPHA:779
MONDO:0013273	chromosome 16p13.3 duplication syndrome	biolink:Disease	mondo	SCTID:733473000|ICD10:Q92.3|GARD:0010755|Orphanet:96078|UMLS:C4518796|DOID:0060431|OMIM:613458|UMLS:C3150708	gard_rare|ordo_malformation_syndrome	telomeric duplication 16p|16p13.3 microduplication syndrome|trisomy 16pter|chromosome 16p13.3 duplication syndrome|16p13.3 duplication|dup(16)(p13.3)|interstitial 16p13.3 duplication|distal trisomy 16p|chromosome 16p13.3 duplication|distal duplication 16p	http://purl.obolibrary.org/obo/MONDO_0013273	16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioural problems.	UMLS:C4518796|http://identifiers.org/omim/613458|ORPHA:96078|SNOMEDCT:733473000|UMLS:C3150708|DOID:0060431
MONDO:0013274	retinitis pigmentosa 51	biolink:Disease	mondo	DOID:0110398|UMLS:C3150715|ICD10:H35.5|OMIM:613464		retinitis pigmentosa caused by mutation in TTC8|RP51|retinitis pigmentosa 51|retinitis pigmentosa 51; RP51|TTC8 retinitis pigmentosa|retinitis pigmentosa type 51	http://purl.obolibrary.org/obo/MONDO_0013274	Any retinitis pigmentosa in which the cause of the disease is a mutation in the TTC8 gene.	http://identifiers.org/omim/613464|DOID:0110398|UMLS:C3150715
MONDO:0001299	diabetic autonomic neuropathy	biolink:Disease	mondo	UMLS:C0271686|SCTID:50620007|NCIT:C27068|DOID:11503|ICD9:337.1			http://purl.obolibrary.org/obo/MONDO_0001299	Autonomic neuropathy that is caused by diabetes mellitus.	UMLS:C0271686|NCIT:C27068|SNOMEDCT:50620007|DOID:11503
NCBITaxon:203490	Fusobacteriia	organism taxon	mondo	GC_ID:11		Fusobacteria	http://purl.obolibrary.org/obo/NCBITaxon_203490		
MONDO:0001298	congenital mitral valve insufficiency	biolink:Disease	mondo	SCTID:29928006|MESH:D008944|ICD10:Q23.3|NCIT:C50888|UMLS:C0158619|DOID:11502|ICD9:396.3|ICD9:746.6		mitral valve incompetence|congenital mitral insufficiency|mitral valve insufficiency|congenital mitral regurgitation|mitral regurgitation|insufficiency, mitral|mitral insufficiency|congenital insufficiency of mitral valve	http://purl.obolibrary.org/obo/MONDO_0001298	Dysfunction of the mitral valve characterized by incomplete valve closure.	UMLS:C0158619|NCIT:C50888|MESH:D008944|SNOMEDCT:29928006|DOID:11502
MONDO:0001293	subglottis cancer	biolink:Disease	mondo	DOID:11472|UMLS:C0153485|NCIT:C3546|ICD9:161.2|SCTID:363430007|ICD10:C32.2		cancer of subglottis|Ca larynx - subglottis|subglottis cancer|malignant tumor of subglottis|malignant tumor of the subglottis|malignant subglottic tumor|malignant neoplasm of subglottis|malignant subglottis neoplasm|malignant subglottis tumor|malignant neoplasm of the subglottis|malignant subglottic neoplasm	http://purl.obolibrary.org/obo/MONDO_0001293	A malignant neoplasm that affects the subglottic area of the larynx. The vast majority of cases are squamous cell carcinomas.	SNOMEDCT:363430007|NCIT:C3546|DOID:11472|UMLS:C0153485
MONDO:0001292	autonomic nervous system disease	biolink:Disease	mondo	MESH:D001342|SCTID:15241006|COHD:434633|SCTID:128123007|ICD9:337.1|DOID:11465|ICD9:337.9		autonomic dysfunction, segmental|segmental autonomic dysfunction|disorder of peripheral autonomic nervous system|autonomic peripheral nervous system diseases|autonomic nervous system disorders|nervous system diseases, autonomic|segmental autonomic dysfunctions|autonomic nervous system disease or disorder|peripheral autonomic nervous system diseases|nervous system diseases, sympathetic|autonomic nervous system disorder|disorder of autonomic nervous system|autonomic central nervous system diseases|central autonomic nervous system diseases|autonomic dysfunctions, segmental|autonomic disease|disease of autonomic nervous system|ANS disease|autonomic nervous disease|disease or disorder of autonomic nervous system|ANS (autonomic nervous system) diseases|dysautonomia|disorders of the autonomic nervous system|ANS diseases|autonomic nervous system disease|autonomic diseases	http://purl.obolibrary.org/obo/MONDO_0001292	A disease involving the autonomic nervous system.	MESH:D001342|SNOMEDCT:128123007|DOID:11465|SNOMEDCT:15241006
HP:0032169	Severe infection	biolink:PhenotypicFeature	mondo			Unusual course of infection	http://purl.obolibrary.org/obo/HP_0032169	A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection.	
MONDO:0001291	brain compression	biolink:Disease	mondo	ICD10:G93.5|DOID:11457|SCTID:46963008|UMLS:C0009592|COHD:377550|ICD9:348.4			http://purl.obolibrary.org/obo/MONDO_0001291		UMLS:C0009592|DOID:11457|SNOMEDCT:46963008
MONDO:0001290	allergic cutaneous vasculitis	biolink:Disease	mondo	NCIT:C35119|DOID:11450		allergic cutaneous angiitis|autoimmune hypersensitivity angiitis	http://purl.obolibrary.org/obo/MONDO_0001290	Inflammation of the small vessels of the skin that is mediated by the immune system.	NCIT:C35119|DOID:11450
NCBITaxon:203491	Fusobacteriales	organism taxon	mondo	GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_203491		
MONDO:0001297	cardiac tamponade	biolink:Disease	mondo	MESH:D002305|ICD10:I31.4|ICD9:423.3|NCIT:C50481|SCTID:35304003|COHD:318450|EFO:1001285|DOID:115|UMLS:C0007177		rose's tamponade|pericardial tamponade	http://purl.obolibrary.org/obo/MONDO_0001297	Acute compression of the heart caused by increased intrapericardial pressure due to the collection of blood or fluid in the pericardium from rupture of the heart, penetrating trauma, or progressive effusion.	MESH:D002305|DOID:115|SNOMEDCT:35304003|NCIT:C50481|UMLS:C0007177
HGNC:24200	FAM111B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24200		
MONDO:0001296	acquired night blindness	biolink:Disease	mondo	ICD10:H53.62|COHD:376978|DOID:11491|ICD9:368.62|SCTID:53808001		acquired night blindness	http://purl.obolibrary.org/obo/MONDO_0001296	An instance of night blindness that is acquired during the lifetime of the individual.	SNOMEDCT:53808001|DOID:11491
NCBITaxon:203492	Fusobacteriaceae	organism taxon	mondo	GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_203492		
MONDO:0001295	idiopathic peripheral autonomic neuropathy	biolink:Disease	mondo	ICD9:337.0|ICD9:337.00|SCTID:86489003|UMLS:C0154690|ICD10:G90.09|COHD:194913|DOID:11488|ICD10:G90.0			http://purl.obolibrary.org/obo/MONDO_0001295		DOID:11488|UMLS:C0154690|SNOMEDCT:86489003
MONDO:0001294	Horner syndrome	biolink:Disease	mondo	ICD10:G90.2|ICD9:337.09|GARD:0006670|SCTID:192915005|MESH:D006732|NCIT:C28155|DOID:11486	gard_rare	Horner's syndrome|Horner syndrome|oculosympathetic palsy|cervical sympathetic paralysis|Bernard Horner syndrome|Bernard-Horner syndrome	http://purl.obolibrary.org/obo/MONDO_0001294	Horner's syndrome is a rare condition characterized by miosis (constriction of thepupil), ptosis (drooping of the upper eyelid), and anhidrosis (absence of sweating of the face). It iscaused by damage to the sympathetic nerves of the face. The underlying causes of Horner's syndrome vary greatly and may include a tumor, stroke, or other damage to a part of the brain called the brain stem ; injury to the carotid artery ;and trauma to the brachial plexus. In rare cases, Horner's syndrome is congenital (present from birth) and associated with a lack of pigmentation of the iris (colored part of the eye). Treatment of Horner's syndrome depends on the underlying cause.	SNOMEDCT:192915005|NCIT:C28155|MESH:D006732|DOID:11486
MONDO:0013268	frontonasal dysplasia with alopecia and genital anomaly	biolink:Disease	mondo	ICD10:Q87.0|SCTID:725029001|OMIM:613451|GARD:0012641|UMLS:C3150703|Orphanet:228390	ordo_malformation_syndrome|gard_rare	frontonasal dysplasia type 2|FND2|frontonasal dysplasia 2; FND2|ALX4-related FNDAG|frontonasal dysplasia 2|frontonasal dysplasia with alopecia and genital abnomality|craniofrontonasal dysplasia with alopecia and hypogonadism	http://purl.obolibrary.org/obo/MONDO_0013268	Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.	ORPHA:228390|http://identifiers.org/omim/613451|SNOMEDCT:725029001|UMLS:C3150703
HGNC:14889	DNAJB11	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14889		
MONDO:0013269	autosomal recessive nonsyndromic deafness 91	biolink:Disease	mondo	ICD10:H90.3|OMIM:613453|DOID:0110536|UMLS:C3150704	clingen	autosomal recessive deafness 91|deafness, autosomal recessive 91; DFNB91|autosomal recessive nonsyndromic deafness caused by mutation in SERPINB6|DFNB91|deafness, autosomal recessive type 91|SERPINB6 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 91|deafness, autosomal recessive 91	http://purl.obolibrary.org/obo/MONDO_0013269	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SERPINB6 gene.	http://identifiers.org/omim/613453|DOID:0110536|UMLS:C3150704
MONDO:0013266	intellectual disability, autosomal dominant 20	biolink:Disease	mondo	OMIM:613443|UMLS:C3150700|DOID:0070050		MRD20|intellectual disability, autosomal dominant type 20|MEF2C autosomal dominant non-syndromic intellectual disability|mental retardation, autosomal dominant type 20|mental retardation, autosomal dominant 20; MRD20|intellectual disability, autosomal dominant 20; MRD20|chromosome 5Q14.3 deletion syndrome, proximal|intellectual disability, autosomal dominant 20|autosomal dominant non-syndromic intellectual disability caused by mutation in MEF2C|mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations|intellectual disability, stereotypic movements, epilepsy, and/or cerebral malformations|autosomal dominant intellectual disability 20|autosomal dominant mental retardation 20|mental retardation, autosomal dominant 20	http://purl.obolibrary.org/obo/MONDO_0013266	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MEF2C gene.	DOID:0070050|http://identifiers.org/omim/613443|UMLS:C3150700
MONDO:0013267	distal 16p11.2 microdeletion syndrome	biolink:Disease	mondo	UMLS:C3150701|SCTID:733521003|UMLS:C4518824|OMIM:613444|ICD10:Q93.5|Orphanet:261222|DOID:0060398	ordo_malformation_syndrome	chromosome 16p11.2 deletion syndrome, 220-KB|obesity, susceptibility to|distal monosomy 16p11.2|chromosome 16p11.2 deletion syndrome, 220kb|distal del(16)(p11.2)|body Mass index quantitative trait locus 16|distal 16p11.2 microdeletion syndrome|chromosome 16p11.2 deletion syndrome, type 220kb	http://purl.obolibrary.org/obo/MONDO_0013267	Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.	DOID:0060398|ORPHA:261222|UMLS:C4518824|http://identifiers.org/omim/613444|SNOMEDCT:733521003|UMLS:C3150701
HGNC:14888	DNAJB6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14888		
MONDO:0013260	EOE2	biolink:Disease	mondo	UMLS:C3150679|OMIM:613412		esophagitis, eosinophilic, 2; EOE2|EOE2|esophagitis, eosinophilic, 2	http://purl.obolibrary.org/obo/MONDO_0013260		http://identifiers.org/omim/613412|UMLS:C3150679
HGNC:14881	ZEB2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14881		
MONDO:0013261	dilated cardiomyopathy 1R	biolink:Disease	mondo	ICD10:I42.0|OMIM:613424|DOID:0110456		cardiomyopathy, dilated, type 1R|cardiomyopathy, dilated, 1R|dilated cardiomyopathy type 1R|left ventricular noncompaction 4|ACTC1 familial isolated dilated cardiomyopathy|CMD1R|familial isolated dilated cardiomyopathy caused by mutation in ACTC1|cardiomyopathy, dilated, 1R; CMD1R	http://purl.obolibrary.org/obo/MONDO_0013261	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene.	http://identifiers.org/omim/613424|DOID:0110456
GO:0035051	cardiocyte differentiation	biolink:OntologyClass	mondo			cardiac cell differentiation|heart cell differentiation	http://purl.obolibrary.org/obo/GO_0035051	The process in which a relatively unspecialized cell acquires the specialized structural and/or functional features of a cell that will form part of the cardiac organ of an individual.	
MONDO:0013264	amyotrophic lateral sclerosis type 12	biolink:Disease	mondo	OMIM:613435|DOID:0060203|UMLS:C3150692		amyotrophic lateral sclerosis 12; ALS12|amyotrophic lateral sclerosis type 12|OPTN amyotrophic lateral sclerosis|amyotrophic lateral sclerosis caused by mutation in OPTN|ALS12|amyotrophic lateral sclerosis 12	http://purl.obolibrary.org/obo/MONDO_0013264	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the OPTN gene.	http://identifiers.org/omim/613435|UMLS:C3150692|DOID:0060203
MONDO:0013265	autism, susceptibility to, 17	biolink:Disease	mondo	OMIM:613436	predisposition	susceptibility to autism 17|autism, susceptibility to, 17|autism, susceptibility to, 17; AUTS17|AUTS17|autism, susceptibility to, type 17	http://purl.obolibrary.org/obo/MONDO_0013265		http://identifiers.org/omim/613436
MONDO:0013262	dilated cardiomyopathy 1S	biolink:Disease	mondo	DOID:0110454|MESH:C563538|ICD10:I42.0|GARD:0012832|OMIM:613426	gard_rare	cardiomyopathy, dilated, 1S|cardiomyopathy, dilated, 1S; CMD1S|dilated cardiomyopathy-1S|cardiomyopathy, dilated, type 1S|MYH7 familial isolated dilated cardiomyopathy|left ventricular noncompaction 5|dilated cardiomyopathy type 1S|CMD1S|familial isolated dilated cardiomyopathy caused by mutation in MYH7	http://purl.obolibrary.org/obo/MONDO_0013262	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene.	http://identifiers.org/omim/613426|DOID:0110454|MESH:C563538
CL:0002351	progenitor cell of endocrine pancreas	biolink:Cell	mondo			pancreatic endocrine progenitor|pancreatic islet progenitor cell	http://purl.obolibrary.org/obo/CL_0002351	A multi-fate stem cell that is able to differentiate into the pancreas alpha, beta and delta endocrine cells. This cell type expresses neurogenin-3 and Isl-1.	
MONDO:0013263	retinitis pigmentosa 54	biolink:Disease	mondo	UMLS:C3150691|DOID:0110364|OMIM:613428|ICD10:H35.5		retinitis pigmentosa type 54|PCARE retinitis pigmentosa|RP54|retinitis pigmentosa caused by mutation in PCARE|retinitis pigmentosa 54; RP54|retinitis pigmentosa 54	http://purl.obolibrary.org/obo/MONDO_0013263	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PCARE gene.	http://identifiers.org/omim/613428|DOID:0110364|UMLS:C3150691
HGNC:14880	GTPBP3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14880		
MONDO:0001268	gingival recession	biolink:Disease	mondo	ICD9:523.20|ICD9:523.2|COHD:134386|MESH:D005889|SCTID:59898000|UMLS:C0266916|ICD9:523.24|UMLS:C0017572|ICD9:523.23|ICD10:K06.0|ICD9:523.22|DOID:1134|ICD9:523.21		gingival recession|localized gingival recession|gingival recession, localized|gingival recession, unspecified|minimal gingival recession|moderate gingival recession|severe gingival recession	http://purl.obolibrary.org/obo/MONDO_0001268	A loss of gum tissue resulting in an exposure of the roots of the teeth.	DOID:1134|UMLS:C0017572|MESH:D005889|NCIT:C82068|SNOMEDCT:59898000|UMLS:C0266916
MONDO:0001267	obsolete Lemierre syndrome	biolink:Disease	mondo			obsolete Lemierre's syndrome	http://purl.obolibrary.org/obo/MONDO_0001267		
MONDO:0001266	erysipelas	biolink:Disease	mondo	COHD:138346|ICD10:A46|HP:0001055|DOID:11330|GARD:0006370|UMLS:C0014733|ICD9:035|MESH:D004886|EFO:1001462|SCTID:44653001	gard_rare		http://purl.obolibrary.org/obo/MONDO_0001266	An infection of the upper layers of the skin caused by species of streptococcus. Erysipelas results in a fiery red rash with raised edges that can easily be distinguished from the skin around it. The affected skin may be warm to the touch.	DOID:11330|MESH:D004886|UMLS:C0014733|SNOMEDCT:44653001
MONDO:0001265	schizophreniform disorder	biolink:Disease	mondo	NCIT:C94376|SCTID:88975006|ICD9:295.4|ICD10:F20.81|DOID:11328|COHD:444434			http://purl.obolibrary.org/obo/MONDO_0001265	A disorder that differs from schizophrenia specifically in total duration (schizophreniform disorder lasts at least 1 month but less than 6 months whereas schizophrenia lasts at least 6 months); schizophreniform disorder also typically causes less impairment in the individual's social and occupational functioning.	DOID:11328|SNOMEDCT:88975006|NCIT:C94376
GO:0106016	positive regulation of inflammatory response to wounding	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0106016	Any process that activates or increases the frequency, rate or extent of the inflammatory response to wounding.	
GO:0106015	negative regulation of inflammatory response to wounding	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0106015	Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response to wounding.	
HGNC:26837	AMER1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26837		
GO:0106014	regulation of inflammatory response to wounding	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0106014	Any process that modulates the frequency, rate or extent of the inflammatory response to wounding.	
MONDO:0001269	scleral disease	biolink:Disease	mondo	MESH:D015422|SCTID:33064008|ICD10:H15.9|NCIT:C79717|DOID:11343|UMLS:C0036412|ICD9:379.19|ICD10:H15		scleral disorder|disease of sclera|disease or disorder of sclera|sclera disorder|sclera disease|sclera disease or disorder|disorder of sclera	http://purl.obolibrary.org/obo/MONDO_0001269	A disorder affecting the sclera. Examples include inflammatory processes (e.g., scleritis and episcleritis), and degenerative processes. Primary tumors of the sclera are extremely rare.	UMLS:C0036412|DOID:11343|SNOMEDCT:33064008|NCIT:C79717|MESH:D015422
MONDO:0001260	cercarial dermatitis	biolink:Disease	mondo	ICD9:120.3|ICD9:709.8|SCTID:238534006|NCIT:C128349|UMLS:C4282208|UMLS:C0546996|ICD10:B65.3|GARD:0009747|DOID:11302	gard_rare	lake Itch|cutaneous schistosomiasis|Sea bather's eruption|duck Itch|swimmer's itch	http://purl.obolibrary.org/obo/MONDO_0001260	An unusual presentation of schistosomiasis characterized by a pruritic papular rash in the perigenital or periumbilical area due to an allergic reaction to schistosoma eggs deposited in the skin.	DOID:11302|SNOMEDCT:238534006|UMLS:C0546996|NCIT:C128349|UMLS:C4282208
CL:0002328	bronchial epithelial cell	biolink:Cell	mondo	BTO:0002922			http://purl.obolibrary.org/obo/CL_0002328	An epithelial cell of the bronchus.	
GO:0023061	signal release	biolink:OntologyClass	mondo			signal secretion	http://purl.obolibrary.org/obo/GO_0023061	The process in which a signal is secreted or discharged into the extracellular medium from a cellular source.	
MONDO:0001264	obsolete Kyasanur forest disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001264		
MONDO:0001263	histoplasmosis retinitis	biolink:Disease	mondo	UMLS:C0153278|SCTID:187058000|ICD9:115.92|DOID:11316		Histoplasma capsulatum caused retinitis|Histoplasma capsulatum retinitis|histoplasmosis with retinitis	http://purl.obolibrary.org/obo/MONDO_0001263	An retinitis caused by infection with Histoplasma capsulatum.	DOID:11316|SNOMEDCT:187058000|UMLS:C0153278
MONDO:0001262	African histoplasmosis	biolink:Disease	mondo	UMLS:C0220977|ICD9:115.10|SCTID:78511005|DOID:11315		Histoplasma duboisii infection|large form histoplasmosis|infection by Histoplasma duboisii|Histoplasma capsulatum var. duboisii infectious disease|Histoplasma capsulatum var. duboisii caused disease or disorder|Histoplasma capsulatum var. duboisii disease or disorder|African histoplasmosis	http://purl.obolibrary.org/obo/MONDO_0001262	An disease or disorder caused by infection with Histoplasma capsulatum var. duboisii.	DOID:11315|UMLS:C0220977|SNOMEDCT:78511005
MONDO:0001261	Mobitz type II atrioventricular block	biolink:Disease	mondo	DOID:11312|ICD9:426.12|COHD:313780|SCTID:28189009|UMLS:C0155700|NCIT:C62018		AV block second degree Mobitz type II|Möbitz II|type 2 2nd degree AV block|type II second degree atrioventricular block|second degree atrioventricular block Mobitz type II|Mobitz type II second degree AV block|Mobitz II atrioventricular block|Mobitz (type) II atrioventricular block|type II second degree AV block|AV block second degree Möbitz type II|Mobitz II|type 2 second degree AV block|Möbitz type II second degree AV block|second degree atrioventricular block Möbitz type II	http://purl.obolibrary.org/obo/MONDO_0001261	A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a relatively constant PR interval prior to the block of an atrial impulse. (CDISC)	DOID:11312|UMLS:C0155700|SNOMEDCT:28189009|NCIT:C62018
CL:0002320	connective tissue cell	biolink:Cell	mondo	FMA:63875|CALOHA:TS-2096			http://purl.obolibrary.org/obo/CL_0002320	A cell of the supporting or framework tissue of the body, arising chiefly from the embryonic mesoderm and including adipose tissue, cartilage, and bone.	
MONDO:0013257	LPRS6	biolink:Disease	mondo	OMIM:613407	predisposition	leprosy, susceptibility to, 6|LPRS6|leprosy, susceptibility to, 6; LPRS6	http://purl.obolibrary.org/obo/MONDO_0013257		http://identifiers.org/omim/613407
MONDO:0013258	autism, susceptibility to, 16	biolink:Disease	mondo	OMIM:613410	predisposition	AUTS16|susceptibility to autism 16|autism, susceptibility to, 16|autism, susceptibility to, 16; AUTS16|autism, susceptibility to, type 16|autism with or without seizures	http://purl.obolibrary.org/obo/MONDO_0013258		http://identifiers.org/omim/613410
HGNC:14857	COG5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14857		
MONDO:0013255	arthrogryposis, renal dysfunction, and cholestasis 2	biolink:Disease	mondo	DOID:0111354|OMIM:613404|UMLS:C3150672		arthrogryposis, renal dysfunction, and cholestasis type 2|ARCS2|arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VIPAS39|arthrogryposis, renal dysfunction, and cholestasis 2|arthrogryposis, renal dysfunction, and cholestasis 2; ARCS2|VIPAS39 arthrogryposis-renal dysfunction-cholestasis syndrome	http://purl.obolibrary.org/obo/MONDO_0013255	Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene.	http://identifiers.org/omim/613404|DOID:0111354|UMLS:C3150672
MONDO:0013256	chromosome 15q24 deletion syndrome	biolink:Disease	mondo	SCTID:699308002|Orphanet:94065|DOID:0060395|UMLS:CN237818|OMIM:613406|ICD10:Q93.5|MESH:C579849|GARD:0012219|UMLS:C3150674	ordo_malformation_syndrome	WITKOS|monosomy 15q24|Del(15)(q24)|15q24 microdeletion syndrome|chromosome 15q24 deletion syndrome|Witteveen-Kolk syndrome; WITKOS|chromosome 15Q24 Duplication syndrome|Witteveen-Kolk syndrome	http://purl.obolibrary.org/obo/MONDO_0013256	15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.	DOID:0060395|ORPHA:94065|SNOMEDCT:699308002|http://identifiers.org/omim/613406|MESH:C579849|UMLS:CN237818|UMLS:C3150674
CL:0002321	embryonic cell	biolink:Cell	mondo	FMA:82841|FMA:82840|WBbt:0007028|CALOHA:TS-0263			http://purl.obolibrary.org/obo/CL_0002321	A cell of the embryo.	
MONDO:0013259	Oguchi disease-2	biolink:Disease	mondo	UMLS:C3150678|OMIM:613411|DOID:0110713		GRK1 Oguchi disease|Oguchi disease 2|Oguchi disease type 2|congenital stationary night blindness Oguchi type 2|CSNBO2|Oguchi disease caused by mutation in GRK1|night blindness, congenital stationary, Oguchi type 2	http://purl.obolibrary.org/obo/MONDO_0013259	Any Oguchi disease in which the cause of the disease is a mutation in the GRK1 gene.	UMLS:C3150678|DOID:0110713|http://identifiers.org/omim/613411
MONDO:0013250	autosomal recessive nonsyndromic deafness 85	biolink:Disease	mondo	DOID:0110531|ICD10:H90.3|OMIM:613392|UMLS:C3160740		deafness, autosomal recessive 85|deafness, autosomal recessive 85; DFNB85|autosomal recessive deafness 85|autosomal recessive nonsyndromic deafness type 85|DFNB85	http://purl.obolibrary.org/obo/MONDO_0013250	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 17p12-q11.2.	UMLS:C3160740|http://identifiers.org/omim/613392|DOID:0110531
MONDO:0013253	breast-ovarian cancer, familial, susceptibility to, 3	biolink:Disease	mondo	OMIM:613399	predisposition	breast-ovarian cancer, familial, susceptibility to, 3; BROVCA3|breast-ovarian cancer, familial, susceptibility to, type 3|hereditary breast ovarian cancer syndrome caused by mutation in Rad51C|hereditary breast ovarian cancer syndrome caused by mutation in RAD51C|RAD51C hereditary breast ovarian cancer syndrome|Rad51C hereditary breast ovarian cancer syndrome|breast cancer, familial, susceptibility to, 3|ovarian cancer, familial, susceptibility to, 3|BROVCA3|breast-ovarian cancer, familial, susceptibility to, 3|susceptibility to familial breast-ovarian cancer 3	http://purl.obolibrary.org/obo/MONDO_0013253	Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51C gene.	http://identifiers.org/omim/613399
MONDO:0013254	microcephaly, seizures, and developmental delay	biolink:Disease	mondo	UMLS:C3150667|GARD:0010933|DOID:0080457|OMIM:613402|Orphanet:228418	gard_rare	microcephaly - seizures - developmental delay|epileptic encephalopathy, early infantile, 10|MCSZ|microcephaly, seizures, and developmental delay; MCSZ|EIEE10|microcephaly, seizures, and developmental delay|early infantile epileptic encephalopathy-10	http://purl.obolibrary.org/obo/MONDO_0013254		ORPHA:228418|http://identifiers.org/omim/613402|DOID:0080457|UMLS:C3150667
MONDO:0013251	Birbeck granule deficiency	biolink:Disease	mondo	OMIM:613393|UMLS:C3150657		Birbeck granules, absence of|Birbeck granule deficiency	http://purl.obolibrary.org/obo/MONDO_0013251		http://identifiers.org/omim/613393|UMLS:C3150657
MONDO:0013252	Warsaw breakage syndrome	biolink:Disease	mondo	ICD9:759.89|SCTID:702829000|OMIM:613398|Orphanet:280558|DOID:0060535|UMLS:C3150658	ordo_malformation_syndrome	WABS|Warsaw breakage syndrome|WARSAW breakage syndrome; WABS	http://purl.obolibrary.org/obo/MONDO_0013252	A syndrome mainly characterized by severe growth retardation and microcephaly. It is a new form of cohesinopathy showing defects in sister chromatid cohesion and hypersensitivity to chemicals that induce replication stress, thus combining distinct cytogenetic features seen in Roberts syndrome and Fanconi anemia, respectively. It has material basis in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11.	DOID:0060535|ORPHA:280558|SNOMEDCT:702829000|http://identifiers.org/omim/613398|UMLS:C3150658
MONDO:0001279	intraspinal meningioma	biolink:Disease	mondo	DOID:1140|UMLS:C1334264|NCIT:C5134		meningioma of spinal canal and spinal cord|meningioma of the spinal canal and spinal cord|intraspinal meningioma|spinal canal and spinal cord meningioma	http://purl.obolibrary.org/obo/MONDO_0001279	A meningioma that arises from the spinal meninges.	NCIT:C5134|DOID:1140|UMLS:C1334264
GO:0023056	positive regulation of signaling	biolink:OntologyClass	mondo			positive regulation of signaling process|positive regulation of signalling process	http://purl.obolibrary.org/obo/GO_0023056	Any process that activates, maintains or increases the frequency, rate or extent of a signaling process.	
MONDO:0001278	obsolete adult respiratory distress syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001278	A syndrome characterized by progressive life-threatening RESPIRATORY INSUFFICIENCY in the absence of known LUNG DISEASES, usually following a systemic insult such as surgery or major TRAUMA.	
MONDO:0001277	cerebral arteritis	biolink:Disease	mondo	COHD:380747|SCTID:28366008|ICD9:437.4|UMLS:C0007773|DOID:11390		cerebral artery inflammation|inflammation of cerebral artery	http://purl.obolibrary.org/obo/MONDO_0001277	An inflammatory disease involving a pathogenic inflammatory response in the cerebral artery.	SNOMEDCT:28366008|DOID:11390|UMLS:C0007773
MONDO:0001276	expressive language disorder	biolink:Disease	mondo	ICD9:315.31|DOID:11385|ICD10:F80.1|NCIT:C92562|SCTID:229733002|COHD:4047124		expressive language disorder|developmental expressive language disorder	http://purl.obolibrary.org/obo/MONDO_0001276	A disorder characterized by an impairment in the development of an individual's expressive language which is in contrast to his/her nonverbal intellect and receptive language development. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult).	DOID:11385|NCIT:C92562|SNOMEDCT:229733002
GO:0023057	negative regulation of signaling	biolink:OntologyClass	mondo			negative regulation of signalling process|negative regulation of signaling process	http://purl.obolibrary.org/obo/GO_0023057	Any process that stops, prevents, or reduces the frequency, rate or extent of a signaling process.	
HP:0032180	Abnormal circulating metabolite concentration	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0032180	An abnormal level of an analyte measured in the blood.	
MONDO:0001271	lens subluxation (disease)	biolink:Disease	mondo	ICD10:H27.11|HP:0001132|DOID:11364|MESH:D007906|NCIT:C34772|SCTID:65814009|ICD9:379.32|COHD:376123|UMLS:C0023316		subluxation of lens|lens subluxation	http://purl.obolibrary.org/obo/MONDO_0001271	A partial dislocation of the lens of the eye.	SNOMEDCT:65814009|NCIT:C34772|UMLS:C0023316|MESH:D007906|DOID:11364
MONDO:0001270	stone in bladder diverticulum	biolink:Disease	mondo	DOID:11354|SCTID:18109005|ICD10:N21.0|ICD9:594.0|UMLS:C0156265|COHD:192965		calculus in diverticulum of bladder	http://purl.obolibrary.org/obo/MONDO_0001270		UMLS:C0156265|SNOMEDCT:18109005|DOID:11354
CL:0002338	CD56-positive, CD161-positive immature natural killer cell, human	biolink:Cell	mondo			p-NK	http://purl.obolibrary.org/obo/CL_0002338	A natural killer cell that is developmentally immature, has the phenotype CD34-negative, CD56-positive, CD117-positive, CD122-positive,and CD161-positive.	
MONDO:0001275	spinal meningioma	biolink:Disease	mondo	UMLS:C0347515|DOID:1138|NCIT:C6935|SCTID:189167009|GARD:0010264	gard_rare	meningioma of the spinal cord|meningioma of spinal cord|meningioma, spine|spinal cord meningioma (disease)|meningioma (disease) of spinal cord|spinal cord meningioma	http://purl.obolibrary.org/obo/MONDO_0001275	Spinal meningioma isa rare type of spinal cord cancer. The spinal cord is part of the central nervous system. This tumor often affects middle-aged women. Tumors of the spinal cord can be either primary or arise from other primary tumors (metastatic), and are typically slow growing. The initial signs and symptoms include headacheand recent onset of seizures. Other features are motor deficits, sensory deficits, pain, and sphincter dysfunction. The thoracic spine (middle back) is the most common site, followed by the cervical spine (neck). These tumors are rarely seen in the lumbar region (lower back). T he only proven risk factor in the development of meningioma is exposure to ionizing radiation. Also, patients with neurofibromatosis type 2 are at increased risk of developing meningioma. Surgery is the treatment of choice and complete tumor removal is reached in the vast majority of patients. The prognosis after surgical resection is excellent.	NCIT:C6935|SNOMEDCT:189167009|UMLS:C0347515|DOID:1138
GO:0023052	signaling	biolink:OntologyClass	mondo			single organism signaling|signalling|biological signaling|signaling process|signalling process	http://purl.obolibrary.org/obo/GO_0023052	The entirety of a process in which information is transmitted within a biological system. This process begins with an active signal and ends when a cellular response has been triggered.	
MONDO:0001274	anal spasm	biolink:Disease	mondo	ICD9:564.6|ICD10:K59.4|DOID:11374|COHD:134404|UMLS:C0152167|SCTID:17440005			http://purl.obolibrary.org/obo/MONDO_0001274		DOID:11374|SNOMEDCT:17440005|UMLS:C0152167
GO:0023051	regulation of signaling	biolink:OntologyClass	mondo			regulation of signaling process|regulation of signalling process	http://purl.obolibrary.org/obo/GO_0023051	Any process that modulates the frequency, rate or extent of a signaling process.	
MONDO:0001273	megacolon	biolink:Disease	mondo	MESH:D008531|DOID:11372|NCIT:C34810|SCTID:33995003|ICD9:564.7|ICD10:K59.3		dilatation of colon	http://purl.obolibrary.org/obo/MONDO_0001273	An abnormal dilation of the colon not due to obstruction.	DOID:11372|SNOMEDCT:33995003|MESH:D008531|NCIT:C34810
MONDO:0001272	functional diarrhea	biolink:Disease	mondo	UMLS:C0156173|ICD10:K59.1|DOID:11371|COHD:80141|ICD9:564.5|SCTID:47812002			http://purl.obolibrary.org/obo/MONDO_0001272		SNOMEDCT:47812002|UMLS:C0156173|DOID:11371
MONDO:0013246	NAFLD2	biolink:Disease	mondo	OMIM:613387	predisposition	fatty liver disease, nonalcoholic, susceptibility to, 2; NAFLD2|fatty liver disease, nonalcoholic, susceptibility to, 2|NAFLD2	http://purl.obolibrary.org/obo/MONDO_0013246		http://identifiers.org/omim/613387
HGNC:14867	APOL4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14867		
MONDO:0013247	Fanconi renotubular syndrome 2	biolink:Disease	mondo	OMIM:613388|UMLS:C3150652		Fanconi renotubular syndrome 2|FRTS2|Fanconi renotubular syndrome type 2|Fanconi syndrome caused by mutation in SLC34A1|SLC34A1 Fanconi syndrome|Fanconi renotubular syndrome 2; FRTS2	http://purl.obolibrary.org/obo/MONDO_0013247	Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.	UMLS:C3150652|http://identifiers.org/omim/613388
MONDO:0013244	brachydactyly type E2	biolink:Disease	mondo	UMLS:C3150644|OMIM:613382|DOID:0110976		BDE2|PTHLH brachydactyly type E|brachydactyly, type E2|brachydactyly type E caused by mutation in PTHLH|brachydactyly, type E2; BDE2	http://purl.obolibrary.org/obo/MONDO_0013244	Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene.	UMLS:C3150644|DOID:0110976|http://identifiers.org/omim/613382
CL:0002333	neural crest derived fat cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002333	A fat cell derived from a neural crest cell.	
MONDO:0013245	syndromic multisystem autoimmune disease due to ITCH deficiency	biolink:Disease	mondo	Orphanet:228426|OMIM:613385|GARD:0010775|UMLS:C3150649	ordo_disease|gard_rare	syndromic multisystem autoimmune disease|autoimmune disease, multisystem, with facial dysmorphism|autoimmune disease, multisystem, with facial dysmorphism; ADMFD|ADMFD|autoimmune disease, syndromic multisystem|ITCH E3 ubiquitin ligase deficiency	http://purl.obolibrary.org/obo/MONDO_0013245		UMLS:C3150649|ORPHA:228426|http://identifiers.org/omim/613385
CL:0002332	ciliated cell of the bronchus	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002332	A ciliated cell of the bronchus.	
MONDO:0013248	Fanconi anemia complementation group O	biolink:Disease	mondo	UMLS:C3150653|OMIM:613390|DOID:0111096		FANCO|Fanconi Anemia, complementation group type O|Fanconi anemia caused by mutation in RAD51C|Fanconi anemia caused by mutation in Rad51C|Fanconi anemia, complementation group O; FANCO|Fanconi anemia, complementation group O|RAD51C Fanconi anemia|Rad51C Fanconi anemia|Fanconi anemia complementation group type O	http://purl.obolibrary.org/obo/MONDO_0013248	Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.	UMLS:C3150653|http://identifiers.org/omim/613390|DOID:0111096
MONDO:0013249	autosomal recessive nonsyndromic deafness 84A	biolink:Disease	mondo	UMLS:C3150654|OMIM:613391|ICD10:H90.3|DOID:0110529		autosomal recessive nonsyndromic deafness caused by mutation in PTPRQ|deafness, autosomal recessive 84|DFNB84A|autosomal recessive deafness 84A with vestibular dysfunction|deafness, autosomal recessive type 84A|autosomal recessive deafness 84A|deafness, autosomal recessive 84A, with vestibular dysfunction|autosomal recessive nonsyndromic deafness type 84A|deafness, autosomal recessive 84A; DFNB84A|PTPRQ autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 84A	http://purl.obolibrary.org/obo/MONDO_0013249	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PTPRQ gene.	UMLS:C3150654|DOID:0110529|http://identifiers.org/omim/613391
NCBITaxon:37989	Xylariales	organism taxon	mondo	GC_ID:1		Sphaeriales	http://purl.obolibrary.org/obo/NCBITaxon_37989		
NCBITaxon:37987	Pneumocystidales	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_37987		
NCBITaxon:35324	unclassified Orthomyxoviridae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_35324		
MONDO:0013242	maturity-onset diabetes of the young type 11	biolink:Disease	mondo	SCTID:609578001|UMLS:C3150618|OMIM:613375|DOID:0111109		MODY11|BLK maturity-onset diabetes of the young (disease)|maturity-onset diabetes of the young, type 11; MODY11|maturity-onset diabetes of the young, type 11|maturity-onset diabetes of the young (disease) caused by mutation in BLK	http://purl.obolibrary.org/obo/MONDO_0013242	Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the BLK gene.	http://identifiers.org/omim/613375|SNOMEDCT:609578001|DOID:0111109|UMLS:C3150618
NCBITaxon:35325	dsRNA viruses	organism taxon	mondo	GC_ID:1		dsRNA nonenveloped viruses	http://purl.obolibrary.org/obo/NCBITaxon_35325		
MONDO:0013243	neuronopathy, distal hereditary motor, type 2C	biolink:Disease	mondo	OMIM:613376|UMLS:C3150619|DOID:0111209		neuronopathy, distal hereditary motor, type IIC|HSPB3 neuronopathy, distal hereditary motor|HMN 2C|neuronopathy, distal hereditary motor caused by mutation in HSPB3|neuronopathy, distal hereditary motor, type IIC; HMN2C|HMN2C|neuropathy, distal hereditary motor, type 2C	http://purl.obolibrary.org/obo/MONDO_0013243	Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB3 gene.	UMLS:C3150619|http://identifiers.org/omim/613376|DOID:0111209
MONDO:0013240	maturity-onset diabetes of the young type 10	biolink:Disease	mondo	OMIM:613370|UMLS:C3150617|SCTID:609577006|DOID:0111108		INS maturity-onset diabetes of the young (disease)|maturity-onset diabetes of the young, type 10|maturity-onset diabetes of the young, type 10; MODY10|MODY10|maturity-onset diabetes of the young (disease) caused by mutation in INS	http://purl.obolibrary.org/obo/MONDO_0013240	Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the INS gene.	http://identifiers.org/omim/613370|DOID:0111108|SNOMEDCT:609577006|UMLS:C3150617
MONDO:0013241	spinocerebellar ataxia type 30	biolink:Disease	mondo	GARD:0004950|ICD10:G11.2|UMLS:C4304845|DOID:0050979|SCTID:719253007|OMIM:613371|Orphanet:211017|MESH:C575214|UMLS:C2936793	gard_rare|ordo_disease	spinocerebellar ataxia 30|spinocerebellar ataxia 30; SCA30|SCA30|spinocerebellar ataxia type 30	http://purl.obolibrary.org/obo/MONDO_0013241	Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by a slowly progressive and relatively pure ataxia.	MESH:C575214|SNOMEDCT:719253007|http://identifiers.org/omim/613371|MESH:C537206|UMLS:C2936793|UMLS:C4304845|ORPHA:211017|DOID:0050979
MONDO:0003700	brachial plexus neoplasm	biolink:Disease	mondo	UMLS:C1332602|NCIT:C5823|DOID:5913		neoplasm of brachial nerve plexus|brachial nerve plexus tumor|neoplasm of the brachial plexus|neoplasm of brachial plexus|brachial plexus tumor|brachial nerve plexus neoplasm|brachial plexus neoplasms|tumor of the brachial plexus|tumor of brachial nerve plexus|brachial plexus neoplasm|tumor of brachial plexus|brachial nerve plexus neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0003700	A neoplasm (disease) that involves the brachial nerve plexus.	NCIT:C5823|UMLS:C1332602|DOID:5913
MONDO:0003701	thyroid gland diffuse sclerosing papillary carcinoma	biolink:Disease	mondo	ICDO:8350/3|UMLS:C1321862|DOID:5914|NCIT:C7427|UMLS:C0334330		nonencapsulated sclerosing carcinoma|papillary carcinoma, diffuse sclerosing|nonencapsulated sclerosing tumor|thyroid gland diffuse sclerosing papillary carcinoma|nonencapsulated sclerosing papillary thyroid carcinoma|nonencapsulated sclerosing adenocarcinoma|nonencapsulated sclerosing neoplasm	http://purl.obolibrary.org/obo/MONDO_0003701	A morphologic variant of papillary carcinoma of the thyroid gland that more often affects young patients and commonly metastasizing to the lungs. It is characterized by a diffuse infiltration of the thyroid gland by malignant follicular cells, squamous metaplasia, stromal fibrosis, and lymphocytic infiltration.	UMLS:C0334330|UMLS:C1321862|DOID:5914|NCIT:C7427
MONDO:0003702	uterus intravascular leiomyomatosis	biolink:Disease	mondo	DOID:5915|NCIT:C5356		intravenous leiomyomatosis of uterus|intravascular leiomyomatosis of uterus|intravenous leiomyomatosis of the uterus|intravascular leiomyomatosis of the uterus|uterine corpus intravenous leiomyomatosis|uterus intravenous leiomyomatosis	http://purl.obolibrary.org/obo/MONDO_0003702	A rare benign neoplasm characterized by the presence of smooth muscle cells growing within the veins of the uterine corpus. The intravascular neoplasm growth occurs outside the confines of an adjacent leiomyoma.	NCIT:C5356|DOID:5915
MONDO:0003703	obsolete uterine corpus leiomyomatosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003703		
GO:0001810	regulation of type I hypersensitivity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0001810	Any process that modulates the frequency, rate, or extent of type I hypersensitivity, a type of inflammatory response.	
HGNC:9865	RARB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9865		
GO:0001819	positive regulation of cytokine production	biolink:OntologyClass	mondo			upregulation of cytokine production|positive regulation of cytokine biosynthetic process|up-regulation of cytokine production|positive regulation of cytokine secretion|up regulation of cytokine production|activation of cytokine production|stimulation of cytokine production	http://purl.obolibrary.org/obo/GO_0001819	Any process that activates or increases the frequency, rate or extent of production of a cytokine.	
HGNC:7208	MPDZ	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7208		
HGNC:14951	PPP1R15B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14951		
HGNC:7207	MPDU1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7207		
GO:0001816	cytokine production	biolink:OntologyClass	mondo			interferon secretion|cytokine secretion|interleukin production|cytokine metabolic process|interleukin secretion|cytokine biosynthetic process|interferon production	http://purl.obolibrary.org/obo/GO_0001816	The appearance of a cytokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels.	
HGNC:26929	CDIN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26929		
GO:0001817	regulation of cytokine production	biolink:OntologyClass	mondo			regulation of cytokine biosynthesis|regulation of cytokine anabolism|regulation of cytokine synthesis|regulation of cytokine formation|regulation of cytokine biosynthetic process|regulation of cytokine secretion	http://purl.obolibrary.org/obo/GO_0001817	Any process that modulates the frequency, rate, or extent of production of a cytokine.	
GO:0001818	negative regulation of cytokine production	biolink:OntologyClass	mondo			down regulation of cytokine production|negative regulation of cytokine secretion|inhibition of cytokine biosynthetic process|downregulation of cytokine biosynthetic process|inhibition of cytokine production|downregulation of cytokine production|negative regulation of cytokine biosynthetic process|negative regulation of cytokine anabolism|negative regulation of cytokine biosynthesis|negative regulation of cytokine synthesis|down-regulation of cytokine biosynthetic process|down-regulation of cytokine production|down regulation of cytokine biosynthetic process|negative regulation of cytokine formation	http://purl.obolibrary.org/obo/GO_0001818	Any process that stops, prevents, or reduces the rate of production of a cytokine.	
HGNC:26927	FOXRED1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26927		
GO:0001811	negative regulation of type I hypersensitivity	biolink:OntologyClass	mondo			down regulation of type I hypersensitivity|inhibition of type I hypersensitivity|downregulation of type I hypersensitivity|down-regulation of type I hypersensitivity	http://purl.obolibrary.org/obo/GO_0001811	Any process that stops, prevents, or reduces the rate of type I hypersensitivity, a type of inflammatory response.	
HGNC:9863	RAPSN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9863		
GO:0001812	positive regulation of type I hypersensitivity	biolink:OntologyClass	mondo			upregulation of type I hypersensitivity|up-regulation of type I hypersensitivity|up regulation of type I hypersensitivity|activation of type I hypersensitivity|stimulation of type I hypersensitivity	http://purl.obolibrary.org/obo/GO_0001812	Any process that activates or increases the frequency, rate or extent of type I hypersensitivity, a type of inflammatory response.	
HGNC:9864	RARA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9864		
HGNC:26944	TMEM138	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26944		
CHEBI:50523	butenolide	biolink:ChemicalSubstance	mondo			furan-2-one|2-furanone|butenolides	http://purl.obolibrary.org/obo/CHEBI_50523	A gamma-lactone that consists of a 2-furanone skeleton and its substituted derivatives.	
MONDO:0003711	obsolete malignant peripheral nerve sheath tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003711		
MONDO:0003712	angiokeratoma of mibelli	biolink:Disease	mondo	NCIT:C3927|SCTID:62727008|DOID:5948|UMLS:C0263640			http://purl.obolibrary.org/obo/MONDO_0003712		NCIT:C3927|DOID:5948|SNOMEDCT:62727008|UMLS:C0263640
GO:0001820	serotonin secretion	biolink:OntologyClass	mondo			5-HT secretion|serotonin release|5-hydroxytryptamine secretion	http://purl.obolibrary.org/obo/GO_0001820	The regulated release of serotonin by a cell. Serotonin (5-hydroxytryptamine, or 5-HT) is a monoamine synthesised in serotonergic neurons in the central nervous system, enterochromaffin cells in the gastrointestinal tract and some immune system cells.	
MONDO:0003713	angiokeratoma circumscriptum	biolink:Disease	mondo	DOID:5949|SCTID:21848000|UMLS:C0263638|NCIT:C7751			http://purl.obolibrary.org/obo/MONDO_0003713		SNOMEDCT:21848000|DOID:5949|UMLS:C0263638|NCIT:C7751
GO:0001821	histamine secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0001821	The regulated release of histamine by a cell or tissue. It is formed by decarboxylation of histidine and it acts through receptors in smooth muscle and in secretory systems.	
MONDO:0003714	bladder urachal squamous cell carcinoma	biolink:Disease	mondo	UMLS:C1511206|DOID:5957|NCIT:C39845		bladder urachal squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0003714		NCIT:C39845|DOID:5957|UMLS:C1511206
MONDO:0003710	ovarian mixed germ cell neoplasm	biolink:Disease	mondo	DOID:5936|ONCOTREE:OMGCT|UMLS:C0280135|NCIT:C8114		ovary mixed germ cell tumor|mixed germ cell tumor|mixed germ cell tumor of ovary|mixed germ cell tumor of the ovary|mixed germ cell neoplasm of the ovary|mixed germ cell neoplasm of ovary|ovarian mixed germ cell neoplasm|ovarian mixed germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0003710	An ovarian malignant germ cell tumor characterized by the presence of at least two different germ cell components. At least one of the germ cell components is primitive. The most common combination of germ cell elements is dysgerminoma and yolk sac tumor.	NCIT:C8114|DOID:5936|UMLS:C0280135
HP:0032368	Acidemia	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0032368	An abnormally low blood pH (usually defined as less than 7.35).	
CHEBI:25585	nonmetal atom	biolink:ChemicalSubstance	mondo			nonmetal|nonmetals|Nichtmetall|non-metaux|no metal|non-metal|no metales|nonmetal|Nichtmetalle	http://purl.obolibrary.org/obo/CHEBI_25585		
NCBITaxon:1314886	Neobalantidium	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1314886		
HGNC:12303	TRIO	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12303		
HGNC:14966	PXDN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14966		
HGNC:9879	RASGRP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9879		
HGNC:7217	MPL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7217		
HGNC:7216	MPI	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7216		
HGNC:7218	MPO	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7218		
HGNC:14963	GPR101	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14963		
HGNC:12305	TRIP11	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12305		
MONDO:0003708	extrahepatic bile duct small cell adenocarcinoma	biolink:Disease	mondo	UMLS:C1335979|DOID:5926|NCIT:C5845		Oat cell carcinoma of the extrahepatic bile duct|extrahepatic bile duct small cell neuroendocrine carcinoma|Oat cell extrahepatic bile duct carcinoma|small cell extrahepatic bile duct carcinoma|extrahepatic bile duct small cell NEC|small cell adenocarcinoma of extrahepatic bile duct|small cell adenocarcinoma of the extrahepatic bile duct|small cell extrahepatic bile duct neuroendocrine carcinoma|Oat cell carcinoma of extrahepatic bile duct	http://purl.obolibrary.org/obo/MONDO_0003708	An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the extrahepatic bile ducts. It is characterized by the presence of malignant small cells.	NCIT:C5845|UMLS:C1335979|DOID:5926
HGNC:9870	RARS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9870		
MONDO:0003709	agoraphobia	biolink:Disease	mondo	SCTID:70691001|NCIT:C34362|ICD10:F40.0|DOID:593|ICD10:F40.00|EFO:1001872|MESH:D000379		fear of open spaces (finding)|fear of open spaces	http://purl.obolibrary.org/obo/MONDO_0003709	An anxiety disorder characterized by an intense, irrational fear of venturing out into open places or situations in which help (or escape) might not be available should excessive anxiety or panic symptoms develop.	SNOMEDCT:70691001|NCIT:C34362|DOID:593|MESH:D000379
HGNC:9871	RASA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9871		
HGNC:26938	HIKESHI	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26938		
MONDO:0003704	uterine corpus diffuse leiomyomatosis	biolink:Disease	mondo	NCIT:C40170|DOID:5916|DOID:5917|UMLS:C1519855		body of uterus leiomyomatosis|leiomyomatosis of body of uterus|uterine corpus leiomyomatosis|uterine corpus diffuse leiomyomatosis	http://purl.obolibrary.org/obo/MONDO_0003704	An unusual condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body of the uterus.	UMLS:C1519855|NCIT:C40170|DOID:5917|DOID:5916
MONDO:0003705	adult brainstem mixed glioma	biolink:Disease	mondo	DOID:5921|UMLS:C1377915|NCIT:C9371		adult brain stem mixed glioma|adult brainstem mixed glioma	http://purl.obolibrary.org/obo/MONDO_0003705		UMLS:C1377915|NCIT:C9371|DOID:5921
MONDO:0003706	adult brainstem astrocytoma	biolink:Disease	mondo	NCIT:C6954|UMLS:C1332191|DOID:5922		adult brainstem astrocytoma|adult brain stem astrocytoma	http://purl.obolibrary.org/obo/MONDO_0003706		NCIT:C6954|UMLS:C1332191|DOID:5922
MONDO:0003707	distal biliary tract carcinoma	biolink:Disease	mondo	UMLS:C1333308|DOID:5923|NCIT:C7109		distal biliary tract carcinoma|carcinoma of the distal biliary tract|distal bile duct carcinoma|carcinoma of distal biliary tract|extrahepatic (distal) bile duct cancer|distal bile duct cancer	http://purl.obolibrary.org/obo/MONDO_0003707	A carcinoma that arises from the common bile duct distal to the insertion of the cystic duct.	UMLS:C1333308|DOID:5923|NCIT:C7109
CHEBI:25555	nitrogen atom	biolink:ChemicalSubstance	mondo			nitrogen|Stickstoff|N|nitrogen|azote|7N|nitrogeno	http://purl.obolibrary.org/obo/CHEBI_25555		
CHEBI:50511	bipyridines	biolink:ChemicalSubstance	mondo			bipyridyls	http://purl.obolibrary.org/obo/CHEBI_50511	Compounds containing a bipyridine group.	
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	biolink:PhenotypicFeature	mondo	UMLS:C1861866		Complete or partial absence of the corpus callosum|Hypoplasia or absence of the corpus callosum|Absent/hypoplastic corpus callosum|Agenesis/hypoplastic corpus callosum|Hypoplastic or absent corpus callosum	http://purl.obolibrary.org/obo/HP_0007370	Absence or underdevelopment of the corpus callosum.	
NCBITaxon:59140	Myzomyia	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_59140		
NCBITaxon:59142	funestus group	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_59142		
CHEBI:25558	organonitrogen heterocyclic antibiotic	biolink:ChemicalSubstance	mondo			organonitrogen heterocyclic antibiotics	http://purl.obolibrary.org/obo/CHEBI_25558		
CHEBI:50514	vasoconstrictor agent	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_50514	Drug used to cause constriction of the blood vessels.	
UBERON:0036553	wall of synovial tendon sheath	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0036553		
HGNC:7225	MPZ	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7225		
HP:0007369	Atrophy/Degeneration affecting the cerebrum	biolink:PhenotypicFeature	mondo	UMLS:C4024898			http://purl.obolibrary.org/obo/HP_0007369	The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain.	
HGNC:9882	RASSF1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9882		
HP:0007367	Atrophy/Degeneration affecting the central nervous system	biolink:PhenotypicFeature	mondo	UMLS:C4024899		Atrophy/Degeneration affecting the CNS	http://purl.obolibrary.org/obo/HP_0007367		
ENVO:00000447	marine biome	biolink:OntologyClass	mondo			marine realm	http://purl.obolibrary.org/obo/ENVO_00000447	An aquatic biome which is determined by a marine water body.	
NCBITaxon:11161		organism taxon	mondo				http://purl.obolibrary.org/obo/NCBITaxon_11161		
ENVO:00000446	terrestrial biome	biolink:OntologyClass	mondo			terrestrial realm	http://purl.obolibrary.org/obo/ENVO_00000446	A biome which is  primarily or completely situated on a landmass.	
HGNC:7224	MPV17	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7224		
HP:0007364	Aplasia/Hypoplasia of the cerebrum	biolink:PhenotypicFeature	mondo	UMLS:C4024902		Absent/small cerebrum|Absent/underdeveloped cerebrum	http://purl.obolibrary.org/obo/HP_0007364		
HGNC:9884	RB1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9884		
HGNC:26922	ERCC6L2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26922		
HGNC:26926	JAGN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26926		
OBO:mondo#disease_responds_to	disease responds to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/mondo#disease_responds_to		
HGNC:14938	PIGT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14938		
GO:0001808	negative regulation of type IV hypersensitivity	biolink:OntologyClass	mondo			downregulation of type IV hypersensitivity|down regulation of type IV hypersensitivity|inhibition of type IV hypersensitivity|down-regulation of type IV hypersensitivity	http://purl.obolibrary.org/obo/GO_0001808	Any process that stops, prevents, or reduces the rate of type IV hypersensitivity, a type of inflammatory response.	
GO:0001809	positive regulation of type IV hypersensitivity	biolink:OntologyClass	mondo			activation of type IV hypersensitivity|up-regulation of type IV hypersensitivity|upregulation of type IV hypersensitivity|up regulation of type IV hypersensitivity|stimulation of type IV hypersensitivity	http://purl.obolibrary.org/obo/GO_0001809	Any process that activates or increases the frequency, rate or extent of type IV hypersensitivity, a type of inflammatory response.	
GO:0001804	negative regulation of type III hypersensitivity	biolink:OntologyClass	mondo			down-regulation of type III hypersensitivity|down regulation of type III hypersensitivity|inhibition of type III hypersensitivity|downregulation of type III hypersensitivity	http://purl.obolibrary.org/obo/GO_0001804	Any process that stops, prevents, or reduces the rate of type III hypersensitivity, a type of inflammatory response.	
GO:0001805	positive regulation of type III hypersensitivity	biolink:OntologyClass	mondo			stimulation of type III hypersensitivity|upregulation of type III hypersensitivity|up-regulation of type III hypersensitivity|up regulation of type III hypersensitivity|activation of type III hypersensitivity	http://purl.obolibrary.org/obo/GO_0001805	Any process that activates or increases the frequency, rate or extent of type III hypersensitivity, a type of inflammatory response.	
HP:0007378	Neoplasm of the gastrointestinal tract	biolink:PhenotypicFeature	mondo	MSH:D005770|NCIT:C3262|UMLS:C0017185|SNOMEDCT_US:126768004		Gastrointestinal tract tumor|Gastrointestinal tract neoplasm|Gastrointestinal tract neoplasia|GI tract tumor|Neoplasm of the GI tract	http://purl.obolibrary.org/obo/HP_0007378	A tumor (abnormal growth of tissue) of the gastrointestinal tract.	
GO:0001806	type IV hypersensitivity	biolink:OntologyClass	mondo			delayed hypersensitivity response|delayed-type hypersensitivity	http://purl.obolibrary.org/obo/GO_0001806	An inflammatory response driven by T cell recognition of processed soluble or cell-associated antigens leading to cytokine release and leukocyte activation.	
GO:0001807	regulation of type IV hypersensitivity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0001807	Any process that modulates the frequency, rate, or extent of type IV hypersensitivity, a type of inflammatory response.	
HGNC:7230	MRE11	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7230		
HGNC:9891	RBBP8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9891		
HGNC:9896	RBM10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9896		
HP:0007373	Motor neuron atrophy	biolink:PhenotypicFeature	mondo	UMLS:C4024896		Motor neuron degeneration	http://purl.obolibrary.org/obo/HP_0007373	Wasting involving the motor neuron.	
GO:0001802	type III hypersensitivity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0001802	An inflammatory response resulting from recognition of immune complexes via complement or Fc receptors on effector cells leading to activation of neutrophils and other leukocytes and damage to bystander tissue.	
GO:0001803	regulation of type III hypersensitivity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0001803	Any process that modulates the frequency, rate, or extent of type III hypersensitivity, a type of inflammatory response.	
NCBITaxon:11176	Avian avulavirus 1	organism taxon	mondo	GC_ID:1		avian paramyxovirus 1|Avian Paramyxovirus Serotype I|NDV|Avian paramyxovirus type-1|Newcastle disease virus NDV|Newcastle disease virus|Avian paramyxovirus type 1	http://purl.obolibrary.org/obo/NCBITaxon_11176		
HP:0007375	Abnormality of the septum pellucidum	biolink:PhenotypicFeature	mondo	UMLS:C4024894			http://purl.obolibrary.org/obo/HP_0007375	An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain.	
MONDO:0003744	spindle cell intraocular melanoma	biolink:Disease	mondo	NCIT:C7986|UMLS:C0279687|DOID:6037		spindle cell uveal melanoma|uveal spindle cell melanoma|spindle cell melanoma of uvea|spindle cell melanoma of the uvea	http://purl.obolibrary.org/obo/MONDO_0003744	A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of spindle-shaped melanocytes.	UMLS:C0279687|NCIT:C7986|DOID:6037
NCBITaxon:1224	Proteobacteria	organism taxon	mondo	PMID:29458499|PMID:11542017|PMID:26654112|PMID:11321122|PMID:11837318|PMID:16280474|GC_ID:11		proteobacteria|purple bacteria|purple non-sulfur bacteria|purple bacteria and relatives|Alphaproteobacteriota|Alphaproteobacteraeota|purple photosynthetic bacteria|purple photosynthetic bacteria and relatives	http://purl.obolibrary.org/obo/NCBITaxon_1224		
MONDO:0003745	choroid spindle cell melanoma	biolink:Disease	mondo	DOID:6041|UMLS:C1333027|NCIT:C6099		spindle cell melanoma of the choroid|optic choroid spindle cell melanoma|spindle cell melanoma of choroid|spindle cell melanoma of optic choroid	http://purl.obolibrary.org/obo/MONDO_0003745	A spindle cell melanoma that involves the optic choroid.	UMLS:C1333027|DOID:6041|NCIT:C6099
MONDO:0003746	ciliary body spindle cell melanoma	biolink:Disease	mondo	NCIT:C6117|UMLS:C1333052|DOID:6043		spindle cell melanoma of the ciliary body|ciliary body spindle cell melanoma|spindle cell melanoma of ciliary body	http://purl.obolibrary.org/obo/MONDO_0003746	A spindle cell melanoma that involves the ciliary body.	DOID:6043|UMLS:C1333052|NCIT:C6117
MONDO:0003747	telangiectatic glomangioma	biolink:Disease	mondo	NCIT:C5345|UMLS:C1336699|DOID:6048		telangiectatic glomangioma	http://purl.obolibrary.org/obo/MONDO_0003747	A glomus tumor characterized by huge vascular channel formations.	DOID:6048|NCIT:C5345|UMLS:C1336699
MONDO:0003740	AIDS phobia	biolink:Disease	mondo	EFO:1001873|UMLS:C0853870|DOID:603|NCIT:C35614		AIDS phobia	http://purl.obolibrary.org/obo/MONDO_0003740	An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome.	NCIT:C35614|DOID:603|UMLS:C0853870
MONDO:0003741	juvenile type testicular granulosa cell tumor	biolink:Disease	mondo	UMLS:C0334403|DOID:6032|UMLS:C1515285|NCIT:C39947		juvenile type granulosa cell tumor|juvenile granulosa cell tumour|juvenile granulosa cell tumor (morphologic abnormality)|juvenile granulosa cell tumor|juvenile type granulosa cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0003741	A rare sex cord-stromal tumor that arises from the testis. It is the most frequent congenital testicular neoplasm and is usually diagnosed during the perinatal period. It usually presents as an asymptomatic scrotal or abdominal mass. Morphologically it is characterized by the presence of cysts that are lined by cells resembling granulosa and theca cells.	NCIT:C39947|UMLS:C0334403|DOID:6032|UMLS:C1515285
MONDO:0003742	heart fibrosarcoma	biolink:Disease	mondo	UMLS:C1332844|NCIT:C5361|DOID:6033		heart fibrosarcoma|cardiac fibrosarcoma|fibrosarcoma of the heart|Cardiac fibrosarcoma|heart fibrosarcoma (disease)|fibrosarcoma of heart	http://purl.obolibrary.org/obo/MONDO_0003742	A usually aggressive malignant neoplasm arising from the heart. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.	UMLS:C1332844|NCIT:C5361|DOID:6033
MONDO:0003743	heart malignant hemangiopericytoma	biolink:Disease	mondo	NCIT:C5365|DOID:6034|UMLS:C1334567		heart spindle cell tumor|malignant Cardiac hemangiopericytoma|malignant hemangiopericytoma of heart|heart hemangiopericytoma|malignant heart hemangiopericytoma|malignant hemangiopericytoma of the heart	http://purl.obolibrary.org/obo/MONDO_0003743	A malignant hemangiopericytoma arising in the heart.	NCIT:C5365|DOID:6034|UMLS:C1334567
MONDO:0015729	mosaic trisomy 16	biolink:Disease	mondo	SCTID:764621006|MESH:C538041|ICD10:Q92.1|Orphanet:1708	ordo_malformation_syndrome	Mosaic trisomy type 16|trisomy 16 mosaicism|Mosaic trisomy chromosome 16	http://purl.obolibrary.org/obo/MONDO_0015729	Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay.	MESH:C538041|ORPHA:1708|SNOMEDCT:764621006
MONDO:0015728	distal trisomy 15q	biolink:Disease	mondo	ICD10:Q92.3|MESH:C538036|Orphanet:1707	ordo_etiological_subtype	trisomy 15qter|distal duplication 15q|telomeric duplication 15q|distal trisomy type 15q	http://purl.obolibrary.org/obo/MONDO_0015728		UMLS:C2931705|MESH:C538036|ORPHA:1707
MONDO:0015727	mosaic trisomy 15	biolink:Disease	mondo	SCTID:764619001|ICD10:Q92.1|UMLS:CN035788|GARD:0005313|MESH:C538037|Orphanet:1706	ordo_malformation_syndrome	chromosome 15, trisomy mosaicism|Mosaic trisomy type 15|trisomy 15 mosaicism|Mosaic trisomy chromosome 15	http://purl.obolibrary.org/obo/MONDO_0015727	Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported.	UMLS:CN035788|MESH:C538037|ORPHA:1706|SNOMEDCT:764619001|UMLS:C2931707
HGNC:14906	NIN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14906		
MONDO:0015733	low anorectal malformation	biolink:Disease	mondo	SCTID:253772005|UMLS:C0345218|ICD9:751.5|NCIT:C98975|ICD10:Q42.3|Orphanet:171215|ICD10:Q42.2	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0015733	Low anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying below the ischial tuberosity (e.g., anovestibular fistula in female, perineal and anocutaneous fistulas, and anal stenosis). Patients may present with failure to pass meconium, failure to thrive, and chronic constipation.	SNOMEDCT:253772005|NCIT:C98975|ORPHA:171215|UMLS:C0345218
CL:0002187	basal cell of epidermis	biolink:Cell	mondo	FMA:70571			http://purl.obolibrary.org/obo/CL_0002187	A basally situated, mitotically active, columnar-shaped keratinocyte attached to the basement membrane.	
MONDO:0015732	intermediate anorectal malformation	biolink:Disease	mondo	SCTID:734024009|Orphanet:171208|ICD10:Q42.1|ICD10:Q42.0	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0015732	Intermediate anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying between the pubococcygeal line and the ischial tuberosity (e.g., rectovestibular and rectovaginal fistulas in the female, rectobulbar fistula in the male, and anal agenesis). Patients may present with failure to pass meconium, failure to thrive, and recurrent urinary tract infections.	SNOMEDCT:734024009|ORPHA:171208
MONDO:0015731	high anorectal malformation	biolink:Disease	mondo	SCTID:253771003|ICD10:Q42.1|ICD10:Q42.0|ICD9:751.5|Orphanet:171201	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0015731	High anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies, with or without a rectourogenital fistula, located above the pubococcygeal line (i.e. anorectal agenesis, rectal agenesis, atresia, or stenosis). Patients may present with meconuria, pyuria, strangury, and fecal and urinary incontinence.	SNOMEDCT:253771003|ORPHA:171201|UMLS:C0345210
MONDO:0015730	mosaic trisomy 17	biolink:Disease	mondo	SCTID:764622004|UMLS:C1096168|ICD10:Q92.1|MESH:C538044|GARD:0005317|NCIT:C37865|Orphanet:1711	ordo_malformation_syndrome	chromosome 17, trisomy mosaicism|trisomy 17|chromosome 17 trisomy|chromosome 17, trisomy|Mosaic trisomy type 17|trisomy 17 mosaicism|Mosaic trisomy chromosome 17|chromosome 17 duplication	http://purl.obolibrary.org/obo/MONDO_0015730	Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported.	UMLS:C1096168|ORPHA:1711|SNOMEDCT:764622004|MESH:C538044|NCIT:C37865
MONDO:0015737	typical nemaline myopathy	biolink:Disease	mondo	ICD10:G71.2|Orphanet:171436|GARD:0012822	ordo_disease	typical congenital nemaline myopathy	http://purl.obolibrary.org/obo/MONDO_0015737	Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM) characterized by facial and skeletal muscle weakness and mild respiratory involvement.	ORPHA:171436
MONDO:0015736	intermediate nemaline myopathy	biolink:Disease	mondo	ICD10:G71.2|GARD:0012823|Orphanet:171433	ordo_disease	Intermediate congenital nemaline myopathy|Intermediate congenital NM	http://purl.obolibrary.org/obo/MONDO_0015736	Intermediate nemaline myopathy is a type of nemaline myopathy (NM) that shows features of typical NM in neonates with a more severe progression.	ORPHA:171433
MONDO:0015735	severe congenital nemaline myopathy	biolink:Disease	mondo	Orphanet:171430|ICD10:G71.2|GARD:0012821	clingen|ordo_disease|gard_rare	severe congenital (neonatal) NM	http://purl.obolibrary.org/obo/MONDO_0015735	Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates.	ORPHA:171430
MONDO:0015734	rectal duplication	biolink:Disease	mondo	Orphanet:171220|SCTID:725910009|ICD10:Q43.4	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0015734	Rectal duplication is a rare congenital anorectal malformation characterized by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly they present in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum.	SNOMEDCT:725910009|ORPHA:171220
ENVO:00000428	biome	biolink:OntologyClass	mondo			EcosytemType|major habitat type	http://purl.obolibrary.org/obo/ENVO_00000428	A biome is an ecosystem to which resident ecological communities have evolved adaptations.	
MONDO:0003737	malignant testicular Leydig cell tumor	biolink:Disease	mondo	DOID:6021|NCIT:C39942|UMLS:C1515288		testicular Leydig cell tumor, malignant	http://purl.obolibrary.org/obo/MONDO_0003737	A Leydig cell tumor characterized by a large size, cellular atypia, high mitotic activity, vascular invasion and necrotic changes. The prognosis is usually poor.	NCIT:C39942|UMLS:C1515288|DOID:6021
MONDO:0003738	selective IgE deficiency disease	biolink:Disease	mondo	SCTID:234540007|UMLS:C0398694|ICD9:279.03|NCIT:C27143|DOID:6024		selective immunoglobulin E deficiency|selective IgE immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0003738	A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class E (IgE). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons appear asymptomatic but may show a predisposition to autoimmune and respiratory diseases.	DOID:6024|SNOMEDCT:234540007|UMLS:C0398694|NCIT:C27143
MONDO:0003739	selective immunoglobulin deficiency disease	biolink:Disease	mondo	UMLS:C1335942|NCIT:C27870|DOID:6025		selective Immunoglobulin isotype deficiency	http://purl.obolibrary.org/obo/MONDO_0003739	A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the five immunoglobulin classes. Deficiencies of immunoglobulins present variably according to isotype. Selective deficiencies may be caused by decreased or inefficient production from progenitor B cells without any corresponding decreases in the other isotypes. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity.	UMLS:C1335942|DOID:6025|NCIT:C27870
MONDO:0003755	urinary tract non-invasive transitional cell neoplasm	biolink:Disease	mondo	NCIT:C39854|DOID:6065|UMLS:C1518361		non-invasive urothelial neoplasm|non-invasive transitional cell neoplasm of the urinary tract	http://purl.obolibrary.org/obo/MONDO_0003755		UMLS:C1518361|NCIT:C39854|DOID:6065
NCBITaxon:1236	Gammaproteobacteria	organism taxon	mondo	PMID:23334881|PMID:16280474|GC_ID:11		gamma subdivision|gamma proteobacteria|g-proteobacteria|Proteobacteria gamma subdivision|gamma subgroup|Purple bacteria, gamma subdivision	http://purl.obolibrary.org/obo/NCBITaxon_1236		
MONDO:0003756	ovarian mucinous neoplasm	biolink:Disease	mondo	NCIT:C5242|DOID:6067|UMLS:C1335168		mucinous tumor of ovary|malignant ovarian mucinous neoplasm|mucinous neoplasm of the ovary|mucinous neoplasm of ovary|mucinous tumor of the ovary|ovarian mucinous neoplasm|ovarian mucinous tumor	http://purl.obolibrary.org/obo/MONDO_0003756	A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract.	NCIT:C5242|UMLS:C1335168|DOID:6067
MONDO:0003757	paraplegia	biolink:Disease	mondo	NCIT:C50687|SCTID:60389000|DOID:607|UMLS:C0030486|COHD:192606|GARD:0007327|ICD10:G82.2|MESH:D010264|ICD9:344.1|ICD10:G82.20	gard_rare	paraplegia, lower|severe or complete loss of motor function in the lower extremities and lower portions of the trunk	http://purl.obolibrary.org/obo/MONDO_0003757	Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord.	UMLS:C0030486|DOID:607|SNOMEDCT:60389000|NCIT:C50687|MESH:D010264
MONDO:0003758	childhood testicular germ cell tumor	biolink:Disease	mondo	DOID:6082|UMLS:C0796663|NCIT:C6552		childhood testicular germ cell tumor|testicular germ cell tumor of childhood|pediatric testicular germ cell tumor|pediatric testicular germ cell tumor|childhood testicular germ cell neoplasm|testicular germ cell tumor|pediatric testicular germ cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0003758	A germ cell tumor that arises from the testis during childhood.	UMLS:C0796663|NCIT:C6552|DOID:6082
MONDO:0003751	childhood germ cell tumor	biolink:Disease	mondo	UMLS:C0279014|NCIT:C7928|DOID:6053		childhood germ cell tumor|pediatric germ cell tumor|germ cell tumor|pediatric germ cell cancer|childhood germ cell neoplasm|pediatric germ cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0003751	A germ cell tumor that occurs during childhood.	NCIT:C7928|UMLS:C0279014|DOID:6053
MONDO:0003752	frontal sinus Schneiderian papilloma	biolink:Disease	mondo	UMLS:C1333645|DOID:6054|NCIT:C6837		frontal sinus Schneiderian papilloma|Schneiderian papilloma of frontal sinus|Schneiderian papilloma of the frontal sinus	http://purl.obolibrary.org/obo/MONDO_0003752	A papilloma that arises from the ciliated respiratory mucosa that lines the frontal sinus. It is classified as inverted papilloma and oncocytic papilloma.	NCIT:C6837|DOID:6054|UMLS:C1333645
MONDO:0003753	nasal vestibule squamous papilloma	biolink:Disease	mondo	UMLS:C0339826|DOID:6059|NCIT:C4369|SCTID:232364006|ICD9:478.19		nasal vestibule squamous papilloma|squamous papilloma of nasal vestibule|nasal vestibule papilloma|squamous papilloma of the nasal vestibule|papilloma of the nasal vestibule|papilloma of nasal vestibule	http://purl.obolibrary.org/obo/MONDO_0003753	A benign exophytic squamous cell neoplasm with papillary growth that arises from the nasal vestibule.	UMLS:C0339826|SNOMEDCT:232364006|NCIT:C4369|DOID:6059
MONDO:0003754	Brown-Sequard syndrome	biolink:Disease	mondo	SCTID:27982003|DOID:606|EFO:1001279|GARD:0005964|MESH:D018437|ICD10:G83.81|NCIT:C84601	gard_rare	Hemicord syndrome|Hemispinal cord syndrome|Hemiparaplegic syndrome|Brown-Squard syndrome	http://purl.obolibrary.org/obo/MONDO_0003754	Brown-Sequard syndrome is a rare neurological condition that results from an injury or damage to one side of the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia). Brown-Sequard syndrome most commonly occurs in the the thoracic spine (upper and middle back). There are several causes of Brown-Sequard syndrome, including: a spinal cord tumor, trauma (such as a puncture wound to the neck or back), infectious or inflammatory diseases (tuberculosis or multiple sclerosis), and disk herniation. Treatment for this condition varies depending on the underlying cause.	DOID:606|MESH:D018437|NCIT:C84601|SNOMEDCT:27982003
HGNC:26901	OTOGL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26901		
MONDO:0015719	severe hemophilia A	biolink:Disease	mondo	Orphanet:169802|ICD10:D66|SCTID:16872008|UMLS:C0272322	ordo_clinical_subtype	severe factor VIII deficiency|severe hemophilia type A	http://purl.obolibrary.org/obo/MONDO_0015719	Severe hemophilia A is a form of hemophilia A characterized by a large deficiency of factor VIII leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.	ORPHA:169802|UMLS:C0272322|SNOMEDCT:16872008
MONDO:0015718	mosaic trisomy 12	biolink:Disease	mondo	SCTID:764463001|Orphanet:1698|UMLS:CN073989|GARD:0005304|ICD10:Q92.1	ordo_malformation_syndrome|gard_rare	Mosaic trisomy type 12|trisomy 12 mosaicism|Mosaic trisomy chromosome 12	http://purl.obolibrary.org/obo/MONDO_0015718	Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported.	SNOMEDCT:764463001|ORPHA:1698|UMLS:CN073989
MONDO:0015717	mild hemophilia B	biolink:Disease	mondo	UMLS:CN200229|ICD10:D67|Orphanet:169799	ordo_clinical_subtype	mild factor IX deficiency|mild hemophilia type B	http://purl.obolibrary.org/obo/MONDO_0015717	Mild hemophilia B is a form of hemophilia B characterized by a small deficiency of factor IX leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.	ORPHA:169799|UMLS:CN200229
MONDO:0015716	moderately severe hemophilia B	biolink:Disease	mondo	UMLS:CN200228|Orphanet:169796|ICD10:D67	ordo_clinical_subtype	moderately severe factor IX deficiency|moderately severe hemophilia type B	http://purl.obolibrary.org/obo/MONDO_0015716	Moderately severe hemophilia B is a form of hemophilia B characterized by factor IX deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.	ORPHA:169796|UMLS:CN200228
MONDO:0003750	childhood central nervous system germ cell tumor	biolink:Disease	mondo	NCIT:C6205|UMLS:C0278754|DOID:6052		childhood germ cell neoplasm of CNS|pediatric germ cell tumor of the CNS|pediatric germ cell tumor of central nervous system|childhood CNS germ cell tumor|childhood central nervous system germ cell tumor|pediatric germ cell tumor of CNS|childhood germ cell neoplasm of central nervous system|pediatric CNS germ cell neoplasm|pediatric germ cell tumor of the central nervous system|childhood germ cell neoplasm of the central nervous system|pediatric central nervous system germ cell neoplasm|pediatric germ cell neoplasm of CNS|central nervous system childhood germ cell tumor|pediatric central nervous system germ cell tumor|childhood germ cell tumor of central nervous system|pediatric germ cell neoplasm of the CNS|childhood germ cell tumor of the CNS|pediatric germ cell neoplasm of central nervous system|childhood germ cell tumor of the central nervous system|central nervous system germ cell tumor|childhood germ cell tumor of CNS|pediatric CNS germ cell tumor|pediatric germ cell neoplasm of the central nervous system|childhood CNS germ cell neoplasm|childhood central nervous system germ cell neoplasm|central nervous system pediatric germ cell cancer|childhood germ cell neoplasm of the CNS	http://purl.obolibrary.org/obo/MONDO_0003750	A germ cell tumor of the central nervous system occurring in children.	UMLS:C0278754|NCIT:C6205|DOID:6052
NCBITaxon:1239	Firmicutes	organism taxon	mondo	PMID:29458499|PMID:11542017|PMID:10555317|PMID:26654112|PMID:25403554|PMID:11034484|GC_ID:11|PMID:15143038		Bacillaeota|firmicutes|Low G+C firmicutes|Bacillus/Clostridium group|Firmacutes|low G+C Gram-positive bacteria|Clostridium group firmicutes|Bacillota|clostridial firmicutes|low GC Gram+	http://purl.obolibrary.org/obo/NCBITaxon_1239		
MONDO:0015722	congenital vitamin K-dependent coagulation factors deficiency	biolink:Disease	mondo	Orphanet:169826|OMIMPS:277450|DC:0000684|ICD10:D68.2	ordo_group_of_disorders	vitamin K-dependent clotting factors, combined deficiency of|congenital vitamin K-dependent coagulation factors combined deficiency	http://purl.obolibrary.org/obo/MONDO_0015722	Congenital vitamin K-dependent coagulation factors deficiency involving multiple coagulation factors.	ORPHA:169826
MONDO:0015721	mild hemophilia A	biolink:Disease	mondo	SCTID:26029002|UMLS:C0272324|ICD10:D66|Orphanet:169808	ordo_clinical_subtype	mild factor VIII deficiency|mild hemophilia type A	http://purl.obolibrary.org/obo/MONDO_0015721	Mild hemophilia A is a form of hemophilia A characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.	ORPHA:169808|SNOMEDCT:26029002|UMLS:C0272324
MONDO:0015720	moderately severe hemophilia A	biolink:Disease	mondo	ICD10:D66|UMLS:CN200231|Orphanet:169805	ordo_clinical_subtype	moderately severe factor VIII deficiency|moderately severe hemophilia type A	http://purl.obolibrary.org/obo/MONDO_0015720	Moderately severe hemophilia A is a form of hemophilia A characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.	UMLS:CN200231|ORPHA:169805
MONDO:0015726	distal trisomy 14q	biolink:Disease	mondo	UMLS:CN036934|MESH:C538034|Orphanet:1705|ICD10:Q92.3	ordo_malformation_syndrome	trisomy 14qter|distal duplication 14q|telomeric duplication 14q|distal trisomy type 14q	http://purl.obolibrary.org/obo/MONDO_0015726		MESH:C538034|ORPHA:1705|UMLS:CN036934|UMLS:C2931702
CHEBI:37527	acid	biolink:ChemicalSubstance	mondo			Acid|acid|acido|Saeure|Saeuren|acide|acids	http://purl.obolibrary.org/obo/CHEBI_37527	An acid is a molecular entity capable of donating a hydron (Bronsted acid) or capable of forming a covalent bond with an electron pair (Lewis acid).	
MONDO:0015725	mosaic trisomy 14	biolink:Disease	mondo	Orphanet:1703|GARD:0001327|MESH:C535489|UMLS:C2930917|SCTID:764466009|NCIT:C116319|ICD10:Q92.1	ordo_malformation_syndrome|gard_rare	Mosaic trisomy type 14|trisomy 14 mosaicism|Mosaic trisomy chromosome 14	http://purl.obolibrary.org/obo/MONDO_0015725	Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Signs and symptoms that have been most commonly reported include intrauterine growth restriction ; failure to to thrive ; developmental delay; intellectual disability; distinctive facial characteristics; structural malformations of the heart; and other physical abnormalities. This condition is most often caused by an error in cell division in the egg or sperm cell before conception, or in fetal cells after fertilization. Treatment is directed toward the specific signs and symptoms in each individual.	UMLS:C2930917|NCIT:C116319|ORPHA:1703|MESH:C535489|SNOMEDCT:764466009
MONDO:0015724	non-distal trisomy 13q	biolink:Disease	mondo	Orphanet:1702|ICD10:Q92.3|SCTID:764996009	ordo_malformation_syndrome	non-distal duplication 13q|non-distal trisomy type 13q|non-telomeric trisomy 13q	http://purl.obolibrary.org/obo/MONDO_0015724	Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated.	ORPHA:1702|SNOMEDCT:764996009
MONDO:0015723	trisomy 12p	biolink:Disease	mondo	GARD:0005305|Orphanet:1699|UMLS:C0795845|ICD10:Q92.3|MESH:C538299	ordo_malformation_syndrome	12p duplication|chromosome 12p duplication|partial trisomy 12p|12p trisomy|Duplication 12p|trisomy type 12p	http://purl.obolibrary.org/obo/MONDO_0015723	Trisomy 12p is an extremely rare chromosomal disorder (over 30 cases reported worldwide) characterized by craniofacial malformations (round face, prominent cheeks, high bulging forehead, broad and flat nasal bridge, short nose with anteverted nostrils, long philtrum, prominent and everted lower lip, low-set ears, abnormally folded helix, protuberant antihelix), postnatal growth retardation, mental and psychomotor retardation, generalized hypotonia, abnormally short wide hands and/or other abnormalities.	MESH:C538299|UMLS:C0795845|ORPHA:1699
HGNC:14921	TAS2R16	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14921		
CL:0002191	granulocytopoietic cell	biolink:Cell	mondo	FMA:83519			http://purl.obolibrary.org/obo/CL_0002191	A cell involved in the formation of a granulocyte.	
CL:0002195	hepatic stem cell	biolink:Cell	mondo	FMA:86577			http://purl.obolibrary.org/obo/CL_0002195	A stem cell that can give rise to the cells of the liver.	
MONDO:0003748	flying phobia	biolink:Disease	mondo	DOID:605|NCIT:C35413|EFO:1001889			http://purl.obolibrary.org/obo/MONDO_0003748	An overwhelming, irrational, and persistent fear of traveling in an aircraft.	NCIT:C35413|DOID:605
MONDO:0003749	esophageal disease	biolink:Disease	mondo	SCTID:30811009|DOID:6050|MESH:D004935|ICD9:530|SCTID:37657006|ICD9:530.20|NCIT:C3027|ICD10:K22.9|UMLS:C0014852|ICD9:530.2|ICD9:530.9		esophageal disorder|disease of esophagus|esophagus disease or disorder|disorder of esophagus|esophageal ulcer|esophagus disease|disorder of esophagus|disease or disorder of esophagus	http://purl.obolibrary.org/obo/MONDO_0003749	A non-neoplastic or neoplastic disorder that affects the esophagus. Representative examples of non-neoplastic disorders include esophagitis and esophageal ulcer. Representative examples of neoplastic disorders include carcinomas, lymphomas, and melanomas.	MESH:D004935|DOID:6050|UMLS:C0014852|SNOMEDCT:30811009|SNOMEDCT:37657006|NCIT:C3027
CL:0002194	monopoietic cell	biolink:Cell	mondo	FMA:83552			http://purl.obolibrary.org/obo/CL_0002194	A cell involved in the formation of a monocyte (monopoiesis).	
MONDO:0003722	internal auditory canal meningioma	biolink:Disease	mondo	NCIT:C5307|UMLS:C1334227|DOID:5990		meningioma (disease) of internal acoustic meatus|meningioma of the internal auditory canal|meningioma of internal auditory canal|internal acoustic meatus meningioma (disease)	http://purl.obolibrary.org/obo/MONDO_0003722	A meningioma that affects the internal auditory canal.	UMLS:C1334227|DOID:5990|NCIT:C5307
CHEBI:25512	neurotransmitter	biolink:ChemicalSubstance	mondo			neurotransmitters	http://purl.obolibrary.org/obo/CHEBI_25512	An endogenous compound that is used to transmit information across the synapse between a neuron and another cell.	
MONDO:0003723	blunt duct adenosis of breast	biolink:Disease	mondo	NCIT:C6941|DOID:5996|UMLS:C1332573		blunt duct adenosis of the breast|breast blunt duct adenosis	http://purl.obolibrary.org/obo/MONDO_0003723	Breast adenosis characterized by the presence of ducts with distended lumen and columnar cell metaplasia.	UMLS:C1332573|DOID:5996|NCIT:C6941
MONDO:0003724	non-proliferative fibrocystic change of the breast	biolink:Disease	mondo	UMLS:C1332628|DOID:5997|NCIT:C6943		non-proliferative fibrocystic change of breast|breast fibrocystic change, non-proliferative type|non-proliferative fibrocystic change	http://purl.obolibrary.org/obo/MONDO_0003724	Breast fibrocystic change characterized by the absence of epithelial cell hyperplasia.	UMLS:C1332628|DOID:5997|NCIT:C6943
MONDO:0003725	breast adenosis	biolink:Disease	mondo	EFO:0006891|NCIT:C3484|UMLS:C0085750|DOID:5998		breast adenosis|adenosis|adenosis - breast|adenosis of breast|adenosis of the breast|microglandular adenosis	http://purl.obolibrary.org/obo/MONDO_0003725	A non-neoplastic disorder characterized by epithelial and/or myoepithelial tissue growth in the breast lobules. It may be associated with apocrine changes or sclerosis.	NCIT:C3484|UMLS:C0085750|DOID:5998
GO:0050801	ion homeostasis	biolink:OntologyClass	mondo			electrolyte homeostasis|regulation of ion homeostasis|negative regulation of crystal formation	http://purl.obolibrary.org/obo/GO_0050801	Any process involved in the maintenance of an internal steady state of ions within an organism or cell.	
MONDO:0003720	kidney fibrosarcoma	biolink:Disease	mondo	NCIT:C7726|DOID:5982|UMLS:C0238208		renal fibrosarcoma|kidney fibrosarcoma (disease)|fibrosarcoma of kidney|kidney fibrosarcoma|fibrosarcoma of the kidney	http://purl.obolibrary.org/obo/MONDO_0003720	A usually aggressive malignant neoplasm arising from the kidney. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.	UMLS:C0238208|DOID:5982|NCIT:C7726
MONDO:0003721	kidney osteogenic sarcoma	biolink:Disease	mondo	UMLS:C1335747|DOID:5983|NCIT:C6181		kidney osteosarcoma (disease)|osteosarcoma of kidney|kidney osteosarcoma|osteosarcoma of the kidney|renal extraskeletal osteosarcoma|renal osteogenic sarcoma|osteogenic sarcoma of kidney|osteogenic sarcoma of the kidney|kidney osteogenic sarcoma|kidney extraskeletal osteosarcoma|renal osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0003721	An osteosarcoma arising from the kidney.	UMLS:C1335747|DOID:5983|NCIT:C6181
CHEBI:25513	neutral glycosphingolipid	biolink:ChemicalSubstance	mondo			neutral glycosphingolipids	http://purl.obolibrary.org/obo/CHEBI_25513	Any glycosphingolipid containing unsubstituted glycosyl moieties.	
MONDO:0015708	immuno-osseous dysplasia	biolink:Disease	mondo	Orphanet:169349|SCTID:254067002	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015708		ORPHA:169349|SNOMEDCT:254067002|UMLS:C0432218
GO:0050804	modulation of chemical synaptic transmission	biolink:OntologyClass	mondo			regulation of chemical synaptic transmission|modulation of synaptic transmission|regulation of synaptic transmission	http://purl.obolibrary.org/obo/GO_0050804	Any process that modulates the frequency or amplitude of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse.  Amplitude, in this case, refers to the change in postsynaptic membrane potential due to a single instance of synaptic transmission.	
MONDO:0015707	DNA repair defect other than combined T-cell and B-cell immunodeficiencies	biolink:Disease	mondo	Orphanet:169346	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015707		ORPHA:169346
GO:0050805	negative regulation of synaptic transmission	biolink:OntologyClass	mondo			down-regulation of synaptic transmission|down regulation of synaptic transmission|inhibition of synaptic transmission|downregulation of synaptic transmission	http://purl.obolibrary.org/obo/GO_0050805	Any process that stops, prevents, or reduces the frequency, rate or extent of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse.	
MONDO:0015706	mosaic trisomy 1	biolink:Disease	mondo	Orphanet:1692|ICD10:Q92.1|UMLS:CN073987	ordo_malformation_syndrome	Mosaic trisomy type 1|trisomy 1 mosaicism|Mosaic trisomy chromosome 1	http://purl.obolibrary.org/obo/MONDO_0015706		ORPHA:1692|UMLS:CN073987
GO:0050802	circadian sleep/wake cycle, sleep	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0050802	The part of the circadian sleep/wake cycle where the organism is asleep.	
MONDO:0015705	autosomal recessive centronuclear myopathy	biolink:Disease	mondo	SCTID:240081004|Orphanet:169186|UMLS:C3645536|ICD10:G71.2|GARD:0012718|DOID:0111216	ordo_disease	AR-CNM|centronuclear myopathy, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0015705	Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.	UMLS:C0410204|DOID:0111216|SNOMEDCT:240081004|UMLS:C3645536|ORPHA:169186
GO:0050806	positive regulation of synaptic transmission	biolink:OntologyClass	mondo			up regulation of synaptic transmission|activation of synaptic transmission|stimulation of synaptic transmission|upregulation of synaptic transmission|up-regulation of synaptic transmission	http://purl.obolibrary.org/obo/GO_0050806	Any process that activates or increases the frequency, rate or extent of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse.	
MONDO:0015709	immunodeficiency syndrome with autoimmunity	biolink:Disease	mondo	Orphanet:169355|UMLS:CN200213	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015709		ORPHA:169355|UMLS:CN200213
MONDO:0015711	specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells	biolink:Disease	mondo	ICD10:D80.6|Orphanet:169443	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015711		ORPHA:169443
MONDO:0015710	immune dysregulation disease with immunodeficiency	biolink:Disease	mondo	UMLS:CN200214|Orphanet:169361	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015710		UMLS:CN200214|ORPHA:169361
OIO:shorthand	shorthand	biolink:OntologyClass	mondo				http://www.geneontology.org/formats/oboInOwl#shorthand		
MONDO:0015715	severe hemophilia B	biolink:Disease	mondo	UMLS:CN200227|ICD10:D67|Orphanet:169793	ordo_clinical_subtype	severe factor IX deficiency|severe hemophilia type B	http://purl.obolibrary.org/obo/MONDO_0015715	Severe hemophilia B is a form of hemophilia B characterized by a large deficiency of factor IX leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.	UMLS:CN200227|ORPHA:169793
MONDO:0015714	secondary central precocious puberty	biolink:Disease	mondo	Orphanet:169618|ICD10:E22.8|UMLS:CN200226	ordo_etiological_subtype		http://purl.obolibrary.org/obo/MONDO_0015714		UMLS:CN200226|ORPHA:169618
MONDO:0015713	idiopathic central precocious puberty	biolink:Disease	mondo	Orphanet:169615|NCIT:C120372|SCTID:237817008|ICD10:E22.8|UMLS:C0342544|ICD9:259.1	ordo_etiological_subtype		http://purl.obolibrary.org/obo/MONDO_0015713		SNOMEDCT:237817008|NCIT:C120372|UMLS:C0342544|ORPHA:169615
MONDO:0015712	non-distal trisomy 10q	biolink:Disease	mondo	ICD10:Q92.3|Orphanet:1695	ordo_malformation_syndrome	non-telomeric trisomy 10q|non-distal duplication 10q|non-distal trisomy type 10q	http://purl.obolibrary.org/obo/MONDO_0015712	Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism.	UMLS:C2936831|ORPHA:1695
MONDO:0003719	renal pelvis neoplasm	biolink:Disease	mondo	SCTID:126881002|NCIT:C8404|DOID:5977|UMLS:C0346260|ICD9:239.5		renal pelvis neoplasm (disease)|renal pelvis neoplasm|neoplasm of the renal pelvis|neoplasm of the kidney pelvis|neoplasm of kidney pelvis|neoplasm of renal pelvis|kidney pelvis tumor|renal pelvis tumor|tumor of the renal pelvis|kidney pelvis neoplasm|tumor of kidney pelvis|tumor of the kidney pelvis|tumor of renal pelvis	http://purl.obolibrary.org/obo/MONDO_0003719	A neoplasm (disease) that involves the renal pelvis.	SNOMEDCT:126881002|UMLS:C0346260|DOID:5977|NCIT:C8404
MONDO:0003715	bladder urachal carcinoma	biolink:Disease	mondo	MESH:C536475|UMLS:C1511205|ONCOTREE:URCA|DOID:5958|GARD:0007836|NCIT:C39842	gard_rare	urachal carcinoma|bladder urachal cancer|bladder urachal carcinoma	http://purl.obolibrary.org/obo/MONDO_0003715	Urachal cancer is a type of bladder cancer, making up less than 1% of all bladder cancers. The urachus is a structure normally only present during development in the womb that connects the bellybutton and the bladder. This connection normally disappears before birth, but in some people remains. Urachalcancers are usually diagnosed in adults in their 50's and 60's and may develop at the dome or anterior wall of the bladder, along the midline of the body (including the belly button), and between the pubis symphasis and the bladder.Most urachal cancersare adenocarcinomas (cancers that develop from gland cells).Others may besarcomas (which develop from connective tissue -such as leiomyosarcoma, rhabdomyosarcoma, and malignant fibrous histiocytoma), small cell carcinomas, transitional cell cancer, and mixed neoplasias. Most individuals with urachal cancer have symptoms of with hematuria (blood in urine). Other symptoms may include abdominal pain, a palpable abdominal mass, mucinuria, and bacteriuria. Treatment usually involved surgery to remove the cancer.	NCIT:C39842|MESH:C536475|DOID:5958|UMLS:C1511205
MONDO:0003716	renal pelvis papillary urothelial carcinoma	biolink:Disease	mondo	NCIT:C6148|DOID:5973|UMLS:C1377909		renal pelvis papillary carcinoma|kidney pelvis papillary carcinoma|papillary carcinoma of the renal pelvis|papillary carcinoma of the kidney pelvis|papillary carcinoma of kidney pelvis|papillary carcinoma of renal pelvis|renal pelvis papillary urothelial carcinoma	http://purl.obolibrary.org/obo/MONDO_0003716	A papillary transitional cell carcinoma that arises from the renal pelvis.	UMLS:C1377909|DOID:5973|NCIT:C6148
MONDO:0003717	renal pelvis papillary tumor	biolink:Disease	mondo	NCIT:C8603|UMLS:C0853688|DOID:5975		papillary neoplasm of the renal pelvis|renal pelvis papillary urothelial neoplasm|renal pelvis papillary tumor|papillary tumor of renal pelvis|papillary tumor of the renal pelvis|papillary neoplasm of renal pelvis	http://purl.obolibrary.org/obo/MONDO_0003717	A papillary tumor originating in the renal pelvis.	UMLS:C0853688|DOID:5975|NCIT:C8603
MONDO:0003718	occlusion precerebral artery	biolink:Disease	mondo	ICD9:433.81|ICD9:433.3|UMLS:C0265090|ICD9:433.80|SCTID:28790007|ICD9:433|DOID:5976|ICD9:433.9|ICD10:I65.9		occlusion and stenosis of precerebral artery|occlusion and stenosis of multiple and bilateral precerebral arteries	http://purl.obolibrary.org/obo/MONDO_0003718		SNOMEDCT:28790007|UMLS:C0265090|DOID:5976
MONDO:0003733	central nervous system mature teratoma	biolink:Disease	mondo	UMLS:C1332886|NCIT:C7013|ONCOTREE:BMT|DOID:6017		mature teratoma of CNS|mature teratoma of central nervous system|mature teratoma of the central nervous system|central nervous system mature teratoma|mature teratoma of the CNS|CNS mature teratoma|mature teratoma	http://purl.obolibrary.org/obo/MONDO_0003733	A teratoma composed exclusively of fully differentiated, 'adult-type' tissue elements that are sometimes arranged in a pattern resembling normal tissue relationships. Mitotic activity is low or absent. The more common ectodermal components present in a mature teratoma include skin, brain and choroid plexus. The more common mesodermal components include cartilage, bone, fat and muscle (both smooth and striated). And the most common endodermal components are cysts lined by epithelia of respiratory or enteric type and in some cases pancreatic or hepatic tissue. (Adapted from WHO)	DOID:6017|UMLS:C1332886|NCIT:C7013
MONDO:0003734	adult central nervous system immature teratoma	biolink:Disease	mondo	UMLS:C1332193|NCIT:C27401|DOID:6018		adult central nervous system immature teratoma	http://purl.obolibrary.org/obo/MONDO_0003734		DOID:6018|UMLS:C1332193|NCIT:C27401
MONDO:0003735	central nervous system immature teratoma	biolink:Disease	mondo	NCIT:C7014|DOID:6019|UMLS:C1332883|ONCOTREE:BIMT		immature teratoma of central nervous system|immature teratoma|immature teratoma of the central nervous system|immature teratoma of the CNS|immature teratoma of CNS|central nervous system immature teratoma|CNS immature teratoma	http://purl.obolibrary.org/obo/MONDO_0003735	A variant of teratoma composed of incompletely differentiated components resembling fetal tissues. Even if the immature component is only a minor element of an otherwise differentiated teratoma, the tumor is still classified as immature. (Adapted from WHO)	DOID:6019|UMLS:C1332883|NCIT:C7014
MONDO:0003736	cancerophobia	biolink:Disease	mondo	NCIT:C35492|DOID:602|EFO:1001879		fear of getting cancer|Cancerphobia|cancer phobia|fear of getting cancer (finding)	http://purl.obolibrary.org/obo/MONDO_0003736	An overwhelming, irrational, and persistent fear of being diagnosed with cancer.	NCIT:C35492|DOID:602
MONDO:0003730	aleukemic leukemia	biolink:Disease	mondo	SCTID:302856006|UMLS:C0877858|ICD9:208.80|COHD:4121332|DOID:12965|DOID:6004|NCIT:C4982		aleukemic myelosis|subleukemic leukemia|aleukemic leukemia	http://purl.obolibrary.org/obo/MONDO_0003730	A leukemia characterized by the absence of leukemic cells in the peripheral blood.	SNOMEDCT:302856006|DOID:12965|UMLS:C0877858|DOID:6004|NCIT:C4982
MONDO:0003731	adult central nervous system teratoma	biolink:Disease	mondo	UMLS:C1370506|DOID:6015|NCIT:C5794		central nervous system teratoma of adults|Central nervous system teratoma|teratoma of adult central nervous system|adult central nervous system teratoma|teratoma of the adult central nervous system|adult CNS teratoma|teratoma of the adult CNS|teratoma of adult CNS	http://purl.obolibrary.org/obo/MONDO_0003731	A mature or immature teratoma affecting the central nervous system and occurring in adults.	DOID:6015|UMLS:C1370506|NCIT:C5794
MONDO:0003732	adult central nervous system mature teratoma	biolink:Disease	mondo	NCIT:C27400|DOID:6016|UMLS:C1332194		adult central nervous system mature teratoma|central nervous system mature teratoma of adults	http://purl.obolibrary.org/obo/MONDO_0003732	A central nervous system mature teratoma that occurs in an adult.	DOID:6016|UMLS:C1332194|NCIT:C27400
GO:0050810	regulation of steroid biosynthetic process	biolink:OntologyClass	mondo			regulation of steroid synthesis|regulation of steroid formation|regulation of steroid biosynthesis|regulation of steroidogenesis|regulation of steroid anabolism	http://purl.obolibrary.org/obo/GO_0050810	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus.	
NCBITaxon:181550	Trichomonadidae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_181550		
UBERON:0036521	wall of urethra	biolink:AnatomicalEntity	mondo			urethral wall	http://purl.obolibrary.org/obo/UBERON_0036521		
CL:1000428	stem cell of epidermis	biolink:Cell	mondo	FMA:70541		epidermal stem cell	http://purl.obolibrary.org/obo/CL_1000428	A somatic stem cell that is part of the epidermis.	
GO:0050819	negative regulation of coagulation	biolink:OntologyClass	mondo			anticoagulant activity|down-regulation of coagulation|down regulation of coagulation|negative regulation of clotting|inhibition of coagulation|downregulation of coagulation	http://purl.obolibrary.org/obo/GO_0050819	Any process that stops, prevents, or reduces the frequency, rate or extent of coagulation.	
UBERON:0036523	wall of vagina	biolink:AnatomicalEntity	mondo			vaginal wall	http://purl.obolibrary.org/obo/UBERON_0036523		
GO:0050817	coagulation	biolink:OntologyClass	mondo			clotting	http://purl.obolibrary.org/obo/GO_0050817	The process in which a fluid solution, or part of it, changes into a solid or semisolid mass.	
GO:0050818	regulation of coagulation	biolink:OntologyClass	mondo			regulation of clotting	http://purl.obolibrary.org/obo/GO_0050818	Any process that modulates the frequency, rate or extent of coagulation, the process in which a fluid solution, or part of it, changes into a solid or semisolid mass.	
MONDO:0015700	immunodeficiency due to a late component of complement deficiency	biolink:Disease	mondo	Orphanet:169150|ICD10:D84.1	ordo_disease	immunodeficiency due to C5 to C9 component complement deficiency|immunodeficiency due to a C5 to C9 component complement deficiency|deficiency of complement of terminal pathway|terminal complement pathway deficiency	http://purl.obolibrary.org/obo/MONDO_0015700	A genetic deficiency of any membrane attack complex (MAC, also known as terminal component complex (TCC)) component of the complement system (C5, C6, C7, C8, C9). Deficiencies of the terminal complement pathway results in a predisposition to infections, such as invasive meningococcal disease or disseminated gonococcal infection.	ORPHA:169150
MONDO:0015704	familial scaphocephaly syndrome	biolink:Disease	mondo	Orphanet:169163|MedDRA:10072229|ICD10:Q75.0	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015704		MEDDRA:10072229|UMLS:C3267076|ORPHA:169163
MONDO:0015703	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	biolink:Disease	mondo	Orphanet:169160|ICD10:D81.2	clingen|ordo_disease	T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta	http://purl.obolibrary.org/obo/MONDO_0015703		ORPHA:169160
MONDO:0015702	T-B+ severe combined immunodeficiency due to CD45 deficiency	biolink:Disease	mondo	ICD10:D81.2|DOID:0060014|Orphanet:169157	ordo_disease	T-B+ SCID due to CD45 deficiency|CD45 deficiency	http://purl.obolibrary.org/obo/MONDO_0015702		DOID:0060014|ORPHA:169157
MONDO:0015701	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	biolink:Disease	mondo	DOID:0060015|ICD10:D81.2|Orphanet:169154	ordo_disease	T-B+ SCID due to IL-7Ralpha deficiency|IL-7R|interleukin-7 receptor alpha deficiency|IL-7Ralpha deficiency	http://purl.obolibrary.org/obo/MONDO_0015701	A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus.	DOID:0060015|ORPHA:169154
MONDO:0003726	apocrine adenosis of breast	biolink:Disease	mondo	NCIT:C5198|DOID:5999|UMLS:C1332314		breast apocrine adenosis|apocrine adenosis of the breast|apocrine adenosis of breast	http://purl.obolibrary.org/obo/MONDO_0003726	Breast adenosis characterized by the presence of extensive apocrine metaplasia.	UMLS:C1332314|DOID:5999|NCIT:C5198
MONDO:0003727	animal phobia	biolink:Disease	mondo	EFO:1001876|NCIT:C35273|DOID:600		fear of animals (finding)|zoophobia (finding)|fear of animals|zoophobia	http://purl.obolibrary.org/obo/MONDO_0003727	An overwhelming, irrational, and persistent fear of animals.	NCIT:C35273|DOID:600
MONDO:0003728	breast fibrosarcoma	biolink:Disease	mondo	UMLS:C1332630|DOID:6001|NCIT:C5185		fibrosarcoma of the breast|breast fibrosarcoma (disease)|fibrosarcoma of breast|breast fibrosarcoma	http://purl.obolibrary.org/obo/MONDO_0003728	A usually aggressive malignant neoplasm arising from the breast. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.	DOID:6001|UMLS:C1332630|NCIT:C5185
MONDO:0003729	aleukemic leukemia cutis	biolink:Disease	mondo	NCIT:C4983|DOID:6003|GARD:0006892|UMLS:C0887846		aleukemic leukemia cutis|leukemia subleukemic	http://purl.obolibrary.org/obo/MONDO_0003729	Infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood. It results in clinically identifiable skin lesions. It may be the first manifestation of acute leukemia, preceding the involvement of the bone marrow and peripheral blood by the leukemic process.	DOID:6003|NCIT:C4983|UMLS:C0887846
CL:0002174	follicular cell of ovary	biolink:Cell	mondo	EMAPA:31247|FMA:70589			http://purl.obolibrary.org/obo/CL_0002174	A cell within the follicle of an ovary.	
ENVO:01000952	anthropisation	biolink:OntologyClass	mondo			anthropization	http://purl.obolibrary.org/obo/ENVO_01000952	A process during which a natural environmental system is altered by human action.	
GO:0072175	epithelial tube formation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0072175	The developmental process pertaining to the initial formation of an epithelial tube.	
ENVO:01000951	natural environment	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000951	An environmental system in which minimal to no anthropisation has occurred and non-human agents are the primary determinants of the system's dynamics and composition.	
GO:0001894	tissue homeostasis	biolink:OntologyClass	mondo			tissue maintenance	http://purl.obolibrary.org/obo/GO_0001894	A homeostatic process involved in the maintenance of an internal steady state within a defined tissue of an organism, including control of cellular proliferation and death and control of metabolic function.	
ENVO:01000958	terrestrial planet	biolink:OntologyClass	mondo			rocky planet|telluric planet|Earth-like planet	http://purl.obolibrary.org/obo/ENVO_01000958	A planet that is composed primarily of silicate rocks or metals.	
NCBITaxon:1279	Staphylococcus	organism taxon	mondo	PMID:12656157|PMID:17220435|PMID:10758876|PMID:10319469|GC_ID:11|PMID:9734063|PMID:10319495|PMID:10425778		Aurococcus	http://purl.obolibrary.org/obo/NCBITaxon_1279		
HP:0010950	Abnormality of the fourth ventricle	biolink:PhenotypicFeature	mondo	UMLS:C4023630			http://purl.obolibrary.org/obo/HP_0010950	An abnormality of the fourth ventricle.	
HP:0007313	Cerebral degeneration	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:52522001|UMLS:C0154671|SNOMEDCT_US:418143002		Neuroaxonal degeneration in the brain	http://purl.obolibrary.org/obo/HP_0007313		
NCBITaxon:1280	Staphylococcus aureus	organism taxon	mondo	PMID:8573498|GC_ID:11		Micrococcus aureus|Staphlococcus pyogenes citreus|Staphylococcus pyogenes aureus|Micrococcus pyogenes	http://purl.obolibrary.org/obo/NCBITaxon_1280		
GO:0001870	positive regulation of complement activation, lectin pathway	biolink:OntologyClass	mondo			up regulation of complement activation, lectin pathway|activation of complement activation, lectin pathway|positive regulation of complement cascade, lectin pathway|stimulation of complement activation, lectin pathway|upregulation of complement activation, lectin pathway|up-regulation of complement activation, lectin pathway	http://purl.obolibrary.org/obo/GO_0001870	Any process that activates or increases the frequency, rate or extent of complement activation by the lectin pathway.	
HGNC:9802	RAC2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9802		
GO:0098796	membrane protein complex	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0098796	Any protein complex that is part of a membrane.	
NCBITaxon:1257	Peptostreptococcus	organism taxon	mondo	GC_ID:11|PMID:11491354			http://purl.obolibrary.org/obo/NCBITaxon_1257		
GO:0098797	plasma membrane protein complex	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0098797	Any protein complex that is part of the plasma membrane.	
GO:0098794	postsynapse	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0098794	The part of a synapse that is part of the post-synaptic cell.	
GO:0001887	selenium compound metabolic process	biolink:OntologyClass	mondo			selenium metabolic process|selenium compound metabolism|selenium metabolism	http://purl.obolibrary.org/obo/GO_0001887	The chemical reactions and pathways involving compounds that contain selenium, such as selenocysteine.	
GO:0098793	presynapse	biolink:OntologyClass	mondo			presynaptic terminal	http://purl.obolibrary.org/obo/GO_0098793	The part of a synapse that is part of the presynaptic cell.	
HP:0010936	Abnormality of the lower urinary tract	biolink:PhenotypicFeature	mondo	UMLS:C4023640			http://purl.obolibrary.org/obo/HP_0010936	An abnormality of the lower urinary tract.	
HP:0032309	Abnormal granulocyte count	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0032309	Any deviation from the normal cell count per volume of granulocytes in the blood circulation.	
HP:0010935	Abnormality of the upper urinary tract	biolink:PhenotypicFeature	mondo	UMLS:C4023641		Abnormality of the upper urinary tract	http://purl.obolibrary.org/obo/HP_0010935	An abnormality of the upper urinary tract.	
HGNC:9811	RAD21	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9811		
HGNC:9816	RAD50	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9816		
HP:0010932	Abnormal circulating nucleobase concentration	biolink:PhenotypicFeature	mondo	UMLS:C4020762|UMLS:C4023643		Abnormal nucleoside levels	http://purl.obolibrary.org/obo/HP_0010932	An abnormality of a nucleobase metabolic process.	
HGNC:9817	RAD51	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9817		
HP:0010930	Abnormal blood monovalent inorganic cation concentration	biolink:PhenotypicFeature	mondo	UMLS:C4023645		Abnormality of monovalent inorganic cation homeostasis	http://purl.obolibrary.org/obo/HP_0010930	An abnormality of monovalent inorganic cation homeostasis.	
CHEBI:50584	alkyl alcohol	biolink:ChemicalSubstance	mondo			hydroxyalkanes|hydroxyalkane|alkyl alcohols	http://purl.obolibrary.org/obo/CHEBI_50584	An aliphatic alcohol in which the aliphatic alkane chain is substituted by a hydroxy group at unspecified position.	
GO:0098798	mitochondrial protein-containing complex	biolink:OntologyClass	mondo			mitochondrial protein complex	http://purl.obolibrary.org/obo/GO_0098798	A protein complex that is part of a mitochondrion.	
HGNC:9823	RAD51D	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9823		
HGNC:9826	RAD54L	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9826		
HGNC:9820	RAD51C	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9820		
HP:0010995	Abnormal circulating dicarboxylic acid concentration	biolink:PhenotypicFeature	mondo	UMLS:C4023606			http://purl.obolibrary.org/obo/HP_0010995	Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation.	
HP:0010993	Abnormality of the cerebral subcortex	biolink:PhenotypicFeature	mondo	UMLS:C4021207		Abnormality of the cerebral medulla	http://purl.obolibrary.org/obo/HP_0010993	An abnormality of the cerebral subcortex.	
HGNC:9829	RAF1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9829		
HP:0010990	Abnormality of the common coagulation pathway	biolink:PhenotypicFeature	mondo	UMLS:C4023609			http://purl.obolibrary.org/obo/HP_0010990	An abnormality of blood coagulation, common pathway.	
HGNC:9834	RAI1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9834		
UBERON:0012504	adventitia of esophagus	biolink:AnatomicalEntity	mondo			adventitia of oesophagus|esophagus adventitia|adventitious layer of esophagus|tunica adventitia oesophageae|esophageal adventitia|tunica adventitia (esophagus)	http://purl.obolibrary.org/obo/UBERON_0012504	A adventitia that is part of a esophagus.	
UBERON:0012503	serosa of fundus of stomach	biolink:AnatomicalEntity	mondo			visceral peritoneum of fundus of stomach	http://purl.obolibrary.org/obo/UBERON_0012503	A serous membrane that is part of a fundus of stomach.	
HGNC:9832	RAG2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9832		
HP:0007354	Amyotrophic lateral sclerosis	biolink:PhenotypicFeature	mondo	MSH:D000690|SNOMEDCT_US:86044005|UMLS:C0002736		Lou Gehrig's disease	http://purl.obolibrary.org/obo/HP_0007354		
GO:0001867	complement activation, lectin pathway	biolink:OntologyClass	mondo			complement cascade, lectin pathway	http://purl.obolibrary.org/obo/GO_0001867	Any process involved in the activation of any of the steps of the lectin pathway of the complement cascade which allows for the direct killing of microbes and the regulation of other immune processes.	
HGNC:9831	RAG1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9831		
GO:0001868	regulation of complement activation, lectin pathway	biolink:OntologyClass	mondo			regulation of complement cascade, lectin pathway	http://purl.obolibrary.org/obo/GO_0001868	Any process that modulates the frequency, rate or extent of the lectin pathway of complement activation.	
GO:0001869	negative regulation of complement activation, lectin pathway	biolink:OntologyClass	mondo			inhibition of complement activation, lectin pathway|downregulation of complement activation, lectin pathway|negative regulation of complement cascade, lectin pathway|down-regulation of complement activation, lectin pathway|down regulation of complement activation, lectin pathway	http://purl.obolibrary.org/obo/GO_0001869	Any process that stops, prevents, or reduces the rate of complement activation by the lectin pathway.	
HP:0010980	Hyperlipoproteinemia	biolink:PhenotypicFeature	mondo	UMLS:C0020476|MSH:D006951|SNOMEDCT_US:3744001			http://purl.obolibrary.org/obo/HP_0010980	An abnormal increase in the level of lipoprotein cholesterol in the blood.	
CHEBI:37578	halide	biolink:ChemicalSubstance	mondo			halides	http://purl.obolibrary.org/obo/CHEBI_37578	Any heteroatomic molecular entity that is a chemical compound of halogen with other chemical elements.	
CHEBI:37577	heteroatomic molecular entity	biolink:ChemicalSubstance	mondo			chemical compound|heteroatomic molecular entities	http://purl.obolibrary.org/obo/CHEBI_37577	A molecular entity consisting of two or more chemical elements.	
HP:0010989	Abnormality of the intrinsic pathway	biolink:PhenotypicFeature	mondo	UMLS:C4023610			http://purl.obolibrary.org/obo/HP_0010989	An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade.	
HP:0010988	Abnormality of the extrinsic pathway	biolink:PhenotypicFeature	mondo	UMLS:C4023611			http://purl.obolibrary.org/obo/HP_0010988	An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade.	
HP:0010987	Abnormal cellular immune system morphology	biolink:PhenotypicFeature	mondo	UMLS:C4023612			http://purl.obolibrary.org/obo/HP_0010987	An abnormality of the morphology or counts of the cells that make up the immune system.	
HP:0010985	Gonosomal inheritance	biolink:PhenotypicFeature	mondo	UMLS:C4023613			http://purl.obolibrary.org/obo/HP_0010985	A mode of inheritance that is observed for traits related to a gene encoded on the sex chromosomes.	
HGNC:9848	RANBP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9848		
GO:0001838	embryonic epithelial tube formation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0001838	The morphogenesis of an embryonic epithelium into a tube-shaped structure.	
GO:0001841	neural tube formation	biolink:OntologyClass	mondo			neurulation|neural tube morphogenesis	http://purl.obolibrary.org/obo/GO_0001841	The formation of a tube from the flat layer of ectodermal cells known as the neural plate. This will give rise to the central nervous system.	
GO:0001843	neural tube closure	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0001843	The last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline.	
HP:0010972	Anemia of inadequate production	biolink:PhenotypicFeature	mondo	UMLS:C0678199|SNOMEDCT_US:70730006|UMLS:C0392708		Dyserythropoietic anemia|Anemia, dyserythropoietic|Ineffective erythropoiesis|Defective erythropoiesis|Anaemia of inadequate production	http://purl.obolibrary.org/obo/HP_0010972	A kind of anemia characterized by inadequate production of erythrocytes.	
HP:0010979	Abnormality of lipoprotein cholesterol concentration	biolink:PhenotypicFeature	mondo	UMLS:C4023615		Abnormality of the level of lipoprotein cholesterol	http://purl.obolibrary.org/obo/HP_0010979	An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood.	
HP:0010978	Abnormality of immune system physiology	biolink:PhenotypicFeature	mondo	UMLS:C4023616			http://purl.obolibrary.org/obo/HP_0010978	A functional abnormality of the immune system.	
HP:0010976	B lymphocytopenia	biolink:PhenotypicFeature	mondo	UMLS:C1855067		Reduction in B cell number|B cell lymphopenia|B cell deficiency|Decreased B cell count|Low B cell count	http://purl.obolibrary.org/obo/HP_0010976	An abnormal decrease from the normal count of B cells.	
HP:0010975	Abnormal B cell count	biolink:PhenotypicFeature	mondo	UMLS:C4021208		Abnormality of B cell numbers|Abnormal number of B cells|Abnormal numbers of B cells|Abnormality of B cell count	http://purl.obolibrary.org/obo/HP_0010975	A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells.	
HP:0010974	Abnormal myeloid leukocyte morphology	biolink:PhenotypicFeature	mondo	UMLS:C4023618		Abnormality of myeloid leukocytes	http://purl.obolibrary.org/obo/HP_0010974	An abnormality of myeloid leukocytes.	
CHEBI:37581	gamma-lactone	biolink:ChemicalSubstance	mondo			gamma-lactona|gamma-Laktone|gamma-lactonas|a 1,4-lactone|1,4-Lactone|gamma-lactones|butyrolactones|1,4-lactones	http://purl.obolibrary.org/obo/CHEBI_37581	A lactone having a five-membered lactone ring.	
GO:0001848	complement binding	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0001848	Interacting selectively and non-covalently with any component or product of the complement cascade.	
GO:1990904	ribonucleoprotein complex	biolink:OntologyClass	mondo			RNA-protein complex|protein-RNA complex|ribonucleoprotein complex|extracellular ribonucleoprotein complex|RNP|intracellular ribonucleoprotein complex	http://purl.obolibrary.org/obo/GO_1990904	A macromolecular complex that contains both RNA and protein molecules.	
MONDO:0013190	factor XIII, b subunit, deficiency of	biolink:Disease	mondo	MESH:C567688|OMIM:613235		factor XIII, b subunit, deficiency of	http://purl.obolibrary.org/obo/MONDO_0013190		http://identifiers.org/omim/613235|MESH:C567688
GO:0050789	regulation of biological process	biolink:OntologyClass	mondo			regulation of physiological process	http://purl.obolibrary.org/obo/GO_0050789	Any process that modulates the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule.	
MONDO:0013191	focal segmental glomerulosclerosis 5	biolink:Disease	mondo	ICD10:N04.1|UMLS:C2750475|OMIM:613237|DOID:0111130|MESH:C567687		focal segmental glomerulosclerosis caused by mutation in INF2|focal segmental glomerulosclerosis 5; FSGS5|glomerulosclerosis, focal segmental, 5|FSGS5|focal segmental glomerulosclerosis 5|focal segmental glomerulosclerosis type 5|INF2 focal segmental glomerulosclerosis	http://purl.obolibrary.org/obo/MONDO_0013191	Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the INF2 gene.	UMLS:C2750475|http://identifiers.org/omim/613237|MESH:C567687|DOID:0111130
GO:1904951	positive regulation of establishment of protein localization	biolink:OntologyClass	mondo			positive regulation of establishment of protein localisation|activation of protein positioning|positive regulation of protein positioning|up-regulation of establishment of protein localization|upregulation of protein recruitment|upregulation of establishment of protein localisation|up regulation of establishment of protein localization|upregulation of protein positioning|activation of establishment of protein localization|up-regulation of protein recruitment|up-regulation of establishment of protein localisation|upregulation of establishment of protein localization|up regulation of protein recruitment|up-regulation of protein positioning|activation of protein recruitment|up regulation of establishment of protein localisation|positive regulation of protein recruitment|activation of establishment of protein localisation|up regulation of protein positioning	http://purl.obolibrary.org/obo/GO_1904951	Any process that activates or increases the frequency, rate or extent of establishment of protein localization.	
GO:1904950	negative regulation of establishment of protein localization	biolink:OntologyClass	mondo			down-regulation of protein recruitment|inhibition of establishment of protein localization|negative regulation of protein recruitment|downregulation of establishment of protein localization|down-regulation of establishment of protein localisation|negative regulation of establishment of protein localisation|down-regulation of protein positioning|down regulation of protein recruitment|negative regulation of protein positioning|down regulation of establishment of protein localisation|down regulation of protein positioning|inhibition of protein recruitment|downregulation of protein recruitment|down-regulation of establishment of protein localization|downregulation of establishment of protein localisation|inhibition of establishment of protein localisation|downregulation of protein positioning|inhibition of protein positioning|down regulation of establishment of protein localization	http://purl.obolibrary.org/obo/GO_1904950	Any process that stops, prevents or reduces the frequency, rate or extent of establishment of protein localization.	
GO:0035148	tube formation	biolink:OntologyClass	mondo			tube lumen formation|lumen formation in an anatomical structure	http://purl.obolibrary.org/obo/GO_0035148	Creation of the central hole of a tube in an anatomical structure through which gases and/or liquids flow.	
MONDO:0013194	Pseudopili annulati	biolink:Disease	mondo	OMIM:613241		Pseudopili annulati	http://purl.obolibrary.org/obo/MONDO_0013194		http://identifiers.org/omim/613241
MONDO:0013195	hypertrophic cardiomyopathy 13	biolink:Disease	mondo	MESH:C567686|UMLS:C2750472|DOID:0110319|OMIM:613243		hypertrophic cardiomyopathy type 13|TNNC1 hypertrophic cardiomyopathy|cardiomyopathy familial hypertrophic 13|cardiomyopathy, familial hypertrophic, type 13|hypertrophic cardiomyopathy caused by mutation in TNNC1|cardiomyopathy, familial hypertrophic, 13|CMH13|cardiomyopathy, familial hypertrophic, 13; CMH13	http://purl.obolibrary.org/obo/MONDO_0013195	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene.	DOID:0110319|UMLS:C2750472|http://identifiers.org/omim/613243|MESH:C567686
MONDO:0013192	spondyloarthropathy, susceptibility to, 3	biolink:Disease	mondo	DOID:0080605|OMIM:613238	predisposition	spondyloarthropathy, susceptibility to, 3; SPDA3|spondyloarthropathy, susceptibility to, 3|SPDA3	http://purl.obolibrary.org/obo/MONDO_0013192		http://identifiers.org/omim/613238|DOID:0080605
MONDO:0013193	thyrotoxic periodic paralysis, susceptibility to, 2	biolink:Disease	mondo	OMIM:613239	predisposition	KCNJ18 thyrotoxic periodic paralysis|thyrotoxic periodic paralysis, susceptibility to, 2|thyrotoxic periodic paralysis caused by mutation in KCNJ18|TTPP2|thyrotoxic periodic paralysis, susceptibility to, 2; TTPP2|thyrotoxic periodic paralysis, susceptibility to, type 2	http://purl.obolibrary.org/obo/MONDO_0013193	Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the KCNJ18 gene.	http://identifiers.org/omim/613239
MONDO:0013198	dilated cardiomyopathy 1EE	biolink:Disease	mondo	MESH:C567683|DOID:0110453|OMIM:613252|ICD10:I42.0|UMLS:C2750466		CMD1EE|familial isolated dilated cardiomyopathy caused by mutation in MYH6|cardiomyopathy, dilated, type 1Ee|cardiomyopathy, dilated, 1EE; CMD1EE|cardiomyopathy, dilated, 1EE|MYH6 familial isolated dilated cardiomyopathy|dilated cardiomyopathy type 1EE	http://purl.obolibrary.org/obo/MONDO_0013198	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene.	DOID:0110453|UMLS:C2750466|http://identifiers.org/omim/613252|MESH:C567683
MONDO:0013199	tuberous sclerosis 2	biolink:Disease	mondo	OMIM:613254|DOID:0080325|NCIT:C75331|GARD:0005381	gard_rare	TSC2|tuberous sclerosis type 2|tuberous sclerosis, type 2|tuberous sclerosis 2; TSC2|TSC2 Angiomyolipomas, renal, modifier of|tuberous sclerosis 2	http://purl.obolibrary.org/obo/MONDO_0013199	Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene).	DOID:0080325|NCIT:C75331|http://identifiers.org/omim/613254
MONDO:0013196	colorectal cancer, hereditary nonpolyposis, type 8	biolink:Disease	mondo	MESH:C567685|OMIM:613244|UMLS:C2750471|DOID:0070270		EPCAM hereditary nonpolyposis colon cancer|colorectal cancer, hereditary nonpolyposis, type 8; HNPCC8|colorectal cancer, hereditary nonpolyposis, type 8|HNPCC8|hereditary nonpolyposis colon cancer caused by mutation in EPCAM	http://purl.obolibrary.org/obo/MONDO_0013196	Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the EPCAM gene.	UMLS:C2750471|DOID:0070270|http://identifiers.org/omim/613244|MESH:C567685
MONDO:0013197	hypertrophic cardiomyopathy 14	biolink:Disease	mondo	MESH:C567684|DOID:0110320|UMLS:C2750467|OMIM:613251		cardiomyopathy, familial hypertrophic, type 14|cardiomyopathy, familial hypertrophic, 14|cardiomyopathy familial hypertrophic 14|CMH14|cardiomyopathy, familial hypertrophic, 14; CMH14|hypertrophic cardiomyopathy type 14|MYH6 hypertrophic cardiomyopathy|hypertrophic cardiomyopathy caused by mutation in MYH6	http://purl.obolibrary.org/obo/MONDO_0013197	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene.	DOID:0110320|UMLS:C2750467|http://identifiers.org/omim/613251|MESH:C567684
MONDO:0025169		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0025169		
GO:0050796	regulation of insulin secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0050796	Any process that modulates the frequency, rate or extent of the regulated release of insulin.	
GO:0050794	regulation of cellular process	biolink:OntologyClass	mondo			regulation of cellular physiological process	http://purl.obolibrary.org/obo/GO_0050794	Any process that modulates the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level.	
GO:0050795	regulation of behavior	biolink:OntologyClass	mondo			regulation of behaviour	http://purl.obolibrary.org/obo/GO_0050795	Any process that modulates the frequency, rate or extent of behavior, the internally coordinated responses (actions or inactions) of whole living organisms (individuals or groups) to internal or external stimuli.	
MONDO:0013180	asthma-related traits, susceptibility to, 8	biolink:Disease	mondo	OMIM:613207	predisposition	ASRT8|asthma-RELATED traits, susceptibility to, 8; ASRT8|asthma-related traits, susceptibility to, 8|Rhinoconjunctivitis, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0013180		http://identifiers.org/omim/613207
MONDO:0025163	white heifer disease	biolink:Disease	mondo	SCTID:82642007|UMLS:C0043152|MESH:D050072		disease, White heifer	http://purl.obolibrary.org/obo/MONDO_0025163	A congenital reproductive abnormality in white female offspring (heifers) in certain breeds of cattle, such as Belgian Blue and Shorthorn. The white color is inherited as a recessive trait which is associated with defects in the female reproductive tract (Muellerian system). These heifers are usually sterile.	MESH:D050072|SNOMEDCT:82642007|UMLS:C0043152
MONDO:0025167	reticuloendotheliosis, avian	biolink:Disease	mondo	UMLS:C0276487|MESH:D055761		Avian Reticuloendothelioses|Reticuloendothelioses, Avian|Avian reticuloendotheliosis	http://purl.obolibrary.org/obo/MONDO_0025167	A group of pathologic syndromes found in avian species caused by reticuloendotheliosis virus. The distinct syndromes include non-neoplastic runting, acute neoplastic disease, and chronic neoplastic disease. Humans and mammals appear resistant.	MESH:D055761|UMLS:C0276487
GO:0060100	positive regulation of phagocytosis, engulfment	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060100	Any process that activates or increases the frequency, rate or extent of the internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis.	
GO:0060101	negative regulation of phagocytosis, engulfment	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060101	Any process that stops, prevents, or reduces the frequency, rate or extent of the internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis.	
MONDO:0013189	trichotillomania	biolink:Disease	mondo	SCTID:17155009|MESH:D014256|ICD10:F63.3|GARD:0007803|DOID:0050587|NCIT:C94336|OMIM:613229|ICD9:312.39|COHD:4062972		trichotillomania|TTM|trichotillomania; TTM	http://purl.obolibrary.org/obo/MONDO_0013189	A disorder characterized by repetitive pulling out of one's hair resulting in noticeable hair loss; the individual experiences a rising subjective sense of tension before pulling out the hair and a sense of gratification or relief when pulling out the hair.	SNOMEDCT:17155009|DOID:0050587|http://identifiers.org/omim/613229|MESH:D014256|NCIT:C94336
MONDO:0013183	congenital stationary night blindness 1C	biolink:Disease	mondo	UMLS:C2750747|DOID:0110867|OMIM:613216|MESH:C567704		congenital stationary night blindness type 1C|CSNB1C|night blindness, congenital stationary, type 1C; CSNB1C|night blindness, congenital stationary, type 1C|congenital stationary night blindness 1C autosomal recessive|TRPM1 congenital stationary night blindness|congenital stationary night blindness caused by mutation in TRPM1|CSNB, complete, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0013183	Any congenital stationary night blindness in which the cause of the disease is a mutation in the TRPM1 gene.	DOID:0110867|UMLS:C2750747|http://identifiers.org/omim/613216|MESH:C567704
MONDO:0013184	congenital diarrhea 5 with tufting enteropathy	biolink:Disease	mondo	SCTID:715669000|UMLS:C2750737|Orphanet:92050|OMIM:613217|GARD:0010630|MESH:C567703|ICD10:P78.3|UMLS:C4275062|DOID:0060776	ordo_disease	IED|diarrhea 5, with tufting enteropathy, congenital; DIAR5|congenital tufting enteropathy|diarrhea 5, with tufting enteropathy, congenital|secretory diarrhea caused by mutation in EPCAM|enteropathy, congenital tufting|congenital familial intractable diarrhea with epithelial or epithelium abnormalities|DIAR5|intestinal epithelial dysplasia|congenital familial intractable diarrhea with enterocytes assembly abnormalities|tufting enteropathy|EPCAM secretory diarrhea|congenital enteropathy|intestinal epithelial cell dysplasia	http://purl.obolibrary.org/obo/MONDO_0013184	Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.	SNOMEDCT:715669000|DOID:0060776|UMLS:C4275062|UMLS:C2750737|ORPHA:92050|http://identifiers.org/omim/613217|MESH:C567703
MONDO:0013181	amelogenesis imperfecta hypomaturation type 2A3	biolink:Disease	mondo	UMLS:C2750771|ICD10:K00.5|MESH:C567706|OMIM:613211|DOID:0110061		amelogenesis imperfecta hypomaturation type IIA3|amelogenesis imperfecta type IIA3|amelogenesis imperfecta, hypomaturation type, IIA3|amelogenesis imperfecta, hypomaturation type, IIA3; AI2A3|WDR72 amelogenesis imperfecta|amelogenesis imperfecta caused by mutation in WDR72|AI2A3	http://purl.obolibrary.org/obo/MONDO_0013181	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the WDR72 gene.	DOID:0110061|UMLS:C2750771|http://identifiers.org/omim/613211|MESH:C567706
MONDO:0013182	chromosome 17p13.3 duplication syndrome	biolink:Disease	mondo	Orphanet:217385|DOID:0060432|UMLS:C2750748|ICD10:Q92.3|OMIM:613215|SCTID:719582007|MESH:C567705|UMLS:C4304641	ordo_malformation_syndrome	chromosome 17p13.3, centromeric, DUPLICATION syndrome|trisomy 17p13.3|chromosome 17p13.3 centromeric duplication syndrome|dup(17)(p13.3)|17p13.3 duplication syndrome|17p13.3 microduplication syndrome	http://purl.obolibrary.org/obo/MONDO_0013182	17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.	UMLS:C4304641|DOID:0060432|UMLS:C2750748|ORPHA:217385|http://identifiers.org/omim/613215|SNOMEDCT:719582007|MESH:C567705
MONDO:0013187	factor XIII, A subunit, deficiency of	biolink:Disease	mondo	OMIM:613225|UMLS:C2584877|MESH:C567691|SCTID:439455002		hereditary factor XIII alpha subunit deficiency|hereditary factor XIII A subunit deficiency|factor XIII, A subunit, deficiency of|hereditary factor XIII type II deficiency	http://purl.obolibrary.org/obo/MONDO_0013187		SNOMEDCT:439455002|MESH:C567691|UMLS:C2584877|http://identifiers.org/omim/613225
MONDO:0013188	cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3	biolink:Disease	mondo	OMIM:613227|MESH:C567690|UMLS:C2750509		cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3; CAMRQ3|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3; CAMRQ3|CA8 dysequilibrium syndrome|cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 3|CAMRQ3|dysequilibrium syndrome caused by mutation in CA8|cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 3|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 3|cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3|cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3	http://purl.obolibrary.org/obo/MONDO_0013188	Any dysequilibrium syndrome in which the cause of the disease is a mutation in the CA8 gene.	MESH:C567690|UMLS:C2750509|http://identifiers.org/omim/613227
GO:0050793	regulation of developmental process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0050793	Any process that modulates the frequency, rate or extent of development, the biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult).	
MONDO:0013185	leprosy, susceptibility to, 5	biolink:Disease	mondo	OMIM:613223	predisposition	TLR1 leprosy|susceptibility to leprosy 5|leprosy, susceptibility to, 5|leprosy, susceptibility to, type 5|leprosy, susceptibility to, 5; LPRS5|leprosy caused by mutation in TLR1|LPRS5|leprosy, protection against	http://purl.obolibrary.org/obo/MONDO_0013185	Any leprosy in which the cause of the disease is a mutation in the TLR1 gene.	http://identifiers.org/omim/613223
GO:0050790	regulation of catalytic activity	biolink:OntologyClass	mondo			regulation of enzyme activity|regulation of metalloenzyme activity	http://purl.obolibrary.org/obo/GO_0050790	Any process that modulates the activity of an enzyme.	
MONDO:0013186	Noonan syndrome 6	biolink:Disease	mondo	OMIM:613224|UMLS:C2750732|DOID:0060584|GARD:0010701|MESH:C548084	gard_rare	Noonan syndrome 6|NRAS gene related Noonan syndrome|Noonan syndrome 6; NS6|Noonan syndrome caused by mutation in NRAS|Noonan syndrome type 6|NRAS Noonan syndrome|NS6	http://purl.obolibrary.org/obo/MONDO_0013186	Any Noonan syndrome in which the cause of the disease is a mutation in the NRAS gene.	MESH:C548084|DOID:0060584|UMLS:C2750732|http://identifiers.org/omim/613224
MONDO:0001189	obsolete esophageal carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001189		
MONDO:0001188	esophagus lymphoma	biolink:Disease	mondo	DOID:1106|NCIT:C5687|UMLS:C1333459		lymphoma of esophagus|primary esophageal lymphoma|lymphoma of the esophagus|esophageal lymphoma|esophagus lymphoma	http://purl.obolibrary.org/obo/MONDO_0001188	An extranodal lymphoma that arises from the esophagus with the bulk of the mass located in the esophagus. Dysphagia may be the presenting symptom. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue.	UMLS:C1333459|DOID:1106|NCIT:C5687
MONDO:0025159	pneumonia of swine, mycoplasmal	biolink:Disease	mondo	UMLS:C1258090|MESH:D045729		pneumonia of swine, enzootic|Mycoplasma pneumonia of pigs|Mycoplasmal pneumonia of swine|swine enzootic pneumonia|swine Mycoplasmal pneumonia|swine Mycoplasma pneumonia|Mycoplasma pneumonia of swine|enzootic pneumonia of pigs|enzootic pneumonia of swine	http://purl.obolibrary.org/obo/MONDO_0025159	A chronic, clinically mild, infectious pneumonia of pigs caused by mycoplasma hyopneumoniae. Ninety percent of swine herds worldwide are infected with this economically costly disease that primarily affects animals aged two to six months old. The disease can be associated with porcine respiratory disease complex. pasteurella multocida is often found as a secondary infection.	MESH:D045729|UMLS:C1258090
MONDO:0001183	contact lens corneal edema	biolink:Disease	mondo	SCTID:49362009|UMLS:C0474442|ICD9:371.24|DOID:11034			http://purl.obolibrary.org/obo/MONDO_0001183		UMLS:C0474442|DOID:11034|SNOMEDCT:49362009
MONDO:0001182	idiopathic corneal edema	biolink:Disease	mondo	SCTID:1794009|COHD:377875|DOID:11033|ICD10:H18.22|UMLS:C0155109|ICD9:371.21			http://purl.obolibrary.org/obo/MONDO_0001182		SNOMEDCT:1794009|UMLS:C0155109|DOID:11033
MONDO:0025152	non-human ape disease	biolink:Disease	mondo	MESH:D018420|UMLS:C0242635		disease, Pongidae|disease, ape|Pongidae disease|diseases, Pongidae|ape disease|Pongidae diseases|diseases, ape	http://purl.obolibrary.org/obo/MONDO_0025152	Diseases of chimpanzees, gorillas, and orangutans.	UMLS:C0242635|MESH:D018420
MONDO:0001181	secondary corneal edema	biolink:Disease	mondo	SCTID:27536004|UMLS:C0155110|ICD10:H18.23|ICD9:371.22|COHD:380720|DOID:11032			http://purl.obolibrary.org/obo/MONDO_0001181		UMLS:C0155110|SNOMEDCT:27536004|DOID:11032
MONDO:0001180	bullous keratopathy	biolink:Disease	mondo	SCTID:57207003|UMLS:C0155111|ICD9:371.23|NCIT:C26970|COHD:375815|ICD10:H18.1|DOID:11031			http://purl.obolibrary.org/obo/MONDO_0001180	Keratopathy that is characterized by the presence of epithelial bullae.	UMLS:C0155111|DOID:11031|NCIT:C26970|SNOMEDCT:57207003
MONDO:0001187	urinary bladder cancer	biolink:Disease	mondo	ICD10:C67.9|DOID:11054|UMLS:C0005684|SCTID:399326009|ICD9:188.9|ICD9:188|OMIM:109800|ICD9:188.8|KEGG:05219|ICD10:C67|NCIT:C9334		malignant neoplasm of the bladder|malignant bladder neoplasm|malignant tumor of the urinary bladder|malignant tumor of urinary bladder|malignant neoplasm of bladder|malignant bladder tumor|malignant urinary bladder neoplasm|malignant tumor of the bladder|urinary bladder malignant neoplasm|malignant neoplasm, urinary bladder|malignant tumor of bladder|cancer of urinary bladder|urinary bladder cancer|malignant neoplasm of urinary bladder|malignant neoplasm of the urinary bladder|tumor of the bladder|bladder cancer|malignant tumor, urinary bladder|malignant urinary bladder tumor|urinary bladder malignant tumor|malignant neoplasm, bladder	http://purl.obolibrary.org/obo/MONDO_0001187	A primary or metastatic malignant neoplasm involving the bladder.	http://identifiers.org/omim/109800|NCIT:C9334|DOID:11054|UMLS:C0005684|SNOMEDCT:399326009
MONDO:0001186	depersonalization disorder	biolink:Disease	mondo	GARD:0006260|SCTID:70764005|DOID:11038|NCIT:C94331|COHD:437244|ICD9:300.6	gard_rare	neurotic derealization	http://purl.obolibrary.org/obo/MONDO_0001186	A disorder characterized by persistent or recurrent episodes of feeling detached from one's self (either one's body or one's mental processes), although the sufferer remains aware that this is only a feeling and does not represent reality.	NCIT:C94331|SNOMEDCT:70764005|DOID:11038
MONDO:0001185	dissociative amnesia	biolink:Disease	mondo	ICD10:F44.0|NCIT:C94328|COHD:444259|ICD9:300.12|DOID:11037|SCTID:84209002		psychogenic amnesia	http://purl.obolibrary.org/obo/MONDO_0001185	A disorder characterized by a retrospective gap in memory of important personal information, usually of a traumatic or stressful nature; the memory loss far exceeds ordinary forgetfulness and is not the result of substance use or the consequence of a medical condition.	NCIT:C94328|SNOMEDCT:84209002|DOID:11037
MONDO:0001184	chronic rapidly progressive glomerulonephritis	biolink:Disease	mondo	UMLS:C0341694|ICD9:582.4|COHD:442076|DOID:11036|SCTID:197614002		chronic glomerulonephritis with lesion of rapidly progressive glomerulonephritis|rapidly progressive glomerulonephritis, chronic	http://purl.obolibrary.org/obo/MONDO_0001184	Chronic form of rapidly progressive glomerulonephritis.	DOID:11036|UMLS:C0341694|SNOMEDCT:197614002
MONDO:0025155	hemorrhagic syndrome, bovine	biolink:Disease	mondo	MESH:D030243|UMLS:C0950112		bovine hemorrhagic syndrome	http://purl.obolibrary.org/obo/MONDO_0025155	Clinically severe acute disease of cattle caused by noncytopathic forms of Bovine viral diarrhea virus 2 (diarrhea virus 2, bovine viral). Outbreaks are characterized by high morbidity and high mortality.	MESH:D030243|UMLS:C0950112
MONDO:0013178	congenital muscular dystrophy due to LMNA mutation	biolink:Disease	mondo	NCIT:C148369|ICD10:G71.2|OMIM:613205|Orphanet:157973|GARD:0012585|MESH:C567708|DOID:0110640|UMLS:C2750785	ordo_disease|gard_rare	muscular dystrophy Congenital, LMNA-related|congenital muscular dystrophy caused by mutation in LMNA|LMNA-related congenital muscular dystrophy|muscular dystrophy, congenital, LMNA-related|L-CMD|congenital muscular dystrophy LMNA-related|MDCL|LMNA congenital muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0013178	Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.	http://identifiers.org/omim/613205|MESH:C567708|DOID:0110640|ORPHA:157973|UMLS:C2750785|NCIT:C148369
MONDO:0013179	hereditary spastic paraplegia 44	biolink:Disease	mondo	OMIM:613206|SCTID:723821002|ICD10:G11.4|Orphanet:320401|DOID:0110796|UMLS:C2750784|MESH:C567707	ordo_disease	hereditary spastic paraplegia type 44|autosomal recessive spastic paraplegia type 44|autosomal recessive complex spastic paraplegia caused by mutation in GJC2|spastic paraplegia 44, autosomal recessive|GJC2 autosomal recessive complex spastic paraplegia|autosomal recessive spastic paraplegia 44|spastic paraplegia 44, autosomal recessive; SPG44|SPG44	http://purl.obolibrary.org/obo/MONDO_0013179	A very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein.	http://identifiers.org/omim/613206|MESH:C567707|ORPHA:320401|SNOMEDCT:723821002|DOID:0110796|UMLS:C2750784
OBO:so#overlaps	overlaps	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/so#overlaps	X overlaps Y iff there exists some Z such that Z contained_by X and Z contained_by Y.	
GO:0060136	embryonic process involved in female pregnancy	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060136	A reproductive process occurring in the embryo or fetus that allows the embryo or fetus to develop within the mother.	
MONDO:0013172	polymicrogyria with optic nerve hypoplasia	biolink:Disease	mondo	Orphanet:250972|OMIM:613180|MESH:C567715|UMLS:C2750798	ordo_malformation_syndrome	polymicrogyria with optic nerve hypoplasia|cortical dysplasia, Complex, with Other brain malformations 8|cortical dysplasia, complex, with other brain malformations 8; CDCBM8|CDCBM8	http://purl.obolibrary.org/obo/MONDO_0013172	Polymicrogyria with optic nerve hypoplasia is a rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction.	MESH:C567715|UMLS:C2750798|ORPHA:250972|http://identifiers.org/omim/613180
MONDO:0013173	intellectual disability, autosomal recessive 13	biolink:Disease	mondo	UMLS:C2750791|OMIM:613192|MESH:C567714		mental retardation, autosomal recessive type 13|mental retardation, autosomal recessive 13|intellectual disability, autosomal recessive 13|TRAPPC9 autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive 13; MRT13|MRT13|mental retardation, autosomal recessive 13; MRT13|autosomal recessive non-syndromic intellectual disability caused by mutation in TRAPPC9|intellectual disability, autosomal recessive type 13	http://purl.obolibrary.org/obo/MONDO_0013173	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TRAPPC9 gene.	MESH:C567714|UMLS:C2750791|http://identifiers.org/omim/613192
MONDO:0013170	cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	biolink:Disease	mondo	Orphanet:221145|ICD10:Q82.8|OMIM:613177|PMID:19836010|MESH:C567716|DOID:0070139|UMLS:C2750804	ordo_malformation_syndrome	cutis laxa, autosomal recessive, type IC; ARCL1C|autosomal recessive cutis laxa type 1C|cutis laxa, autosomal recessive, type IC|Urban-Rifkin-Davis syndrome|cutis laxa, autosomal recessive, type 1C|autosomal recessive cutis laxa type IC|cutis laxa with Severe pulmonary, gastrointestinal, and urinary abnormalities|ARCL1C	http://purl.obolibrary.org/obo/MONDO_0013170	A autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13	MESH:C567716|ORPHA:221145|UMLS:C2750804|DOID:0070139|http://identifiers.org/omim/613177
MONDO:0013171	purine nucleoside phosphorylase deficiency	biolink:Disease	mondo	NCIT:C3963|UMLS:C0268125|MESH:C562587|HGNC:7892|SCTID:60743005|OMIM:613179|ICD9:277.2|ICD10:D81.5|GARD:0004606|Orphanet:760|DOID:5813	gard_rare|ordo_disease	PNP deficiency|purine-nucleoside phosphorylase deficiency|PNPase deficiency|nucleoside phosphorylase deficiency|deficiency of inosine phosphorylase|purine nucleoside phosphorylase deficiency	http://purl.obolibrary.org/obo/MONDO_0013171	Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.	DOID:5813|ORPHA:760|SNOMEDCT:60743005|MESH:C562587|UMLS:C0268125|http://identifiers.org/omim/613179|NCIT:C3963
MONDO:0013176	ichthyosis-short stature-brachydactyly-microspherophakia syndrome	biolink:Disease	mondo	Orphanet:363992|MESH:C567710|OMIM:613195|UMLS:C2750787|ICD10:Q93.5	ordo_disease	Weill-Marchesani syndrome 4; WMS4|Weill-Marchesani-like syndrome|WMS4|Weill-Marchesani syndrome 4|15q26.3 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0013176		MESH:C567710|ORPHA:363992|UMLS:C2750787|http://identifiers.org/omim/613195
MONDO:0013177	congenital muscular dystrophy due to integrin alpha-7 deficiency	biolink:Disease	mondo	DOID:0110639|ICD10:G71.2|Orphanet:34520|UMLS:C2750786|GARD:0012587|MESH:C567709|OMIM:613204	ordo_disease	congenital muscular dystrophy caused by mutation in ITGA7|muscular dystrophy, congenital, due to integrin ALPHA-7 deficiency|congenital muscular dystrophy with integrin alpha-7 deficiency|congenital muscular dystrophy with ITGA7 deficiency|congenital myopathy due to integrin alpha-7 deficiency|muscular dystrophy, congenital, due to ITGA7 deficiency|ITGA7 congenital muscular dystrophy|myopathy, congenital, due to integrin Alpha-7 deficiency	http://purl.obolibrary.org/obo/MONDO_0013177	Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency.	MESH:C567709|DOID:0110639|UMLS:C2750786|ORPHA:34520|http://identifiers.org/omim/613204
MONDO:0013174	primary ciliary dyskinesia 13	biolink:Disease	mondo	MESH:C567713|DOID:0110618|UMLS:C2750790|OMIM:613193|ICD10:Q34.8		primary ciliary dyskinesia type 13|CILD13|ciliary dyskinesia, primary, 13|primary ciliary dyskinesia caused by mutation in DNAAF1|primary ciliary dyskinesia 13 with or without situs inversus|ciliary dyskinesia, primary, 13, with or without situs inversus|DNAAF1 primary ciliary dyskinesia|ciliary dyskinesia, primary, 13; CILD13|ciliary dyskinesia, primary, type 13	http://purl.obolibrary.org/obo/MONDO_0013174	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF1 gene.	MESH:C567713|DOID:0110618|UMLS:C2750790|http://identifiers.org/omim/613193
MONDO:0013175	retinitis pigmentosa 50	biolink:Disease	mondo	MESH:C567712|OMIM:613194|ICD10:H35.5|DOID:0110396		retinitis pigmentosa type 50|retinitis pigmentosa, concentric|RP50|retinitis pigmentosa caused by mutation in BEST1|retinitis pigmentosa 50|BEST1 retinitis pigmentosa|retinitis pigmentosa 50; RP50	http://purl.obolibrary.org/obo/MONDO_0013175	Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene.	MESH:C567712|DOID:0110396|http://identifiers.org/omim/613194
MONDO:0025149	encephalopathy, bovine spongiform	biolink:Disease	mondo	MESH:D016643		spongiform encephalopathy, bovine|BSEs (bovine spongiform encephalopathy)|bovine spongiform encephalitis|bovine spongiform encephalopathy|Mad cow diseases|BSE (bovine spongiform encephalopathy)|encephalitis, bovine spongiform|Mad cow disease	http://purl.obolibrary.org/obo/MONDO_0025149	A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ataxia. This disorder has been associated with consumption of scrapie infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant creutzfeldt-jakob syndrome. (Vet Rec 1998 Jul 25;143(41):101-5)	MESH:D016643
MONDO:0001199	dislocation of ear ossicle	biolink:Disease	mondo	SCTID:87040007|DOID:11129|ICD9:385.23		ossicular dislocation|ossicle chain disarticulation|ossicle chain discontinuity|dislocation of ossicles|dislocation of ear ossicles|ossicle chain disruption	http://purl.obolibrary.org/obo/MONDO_0001199	Ossicular chain dislocation is a separation of the middle ear bones. It results in a hearing loss due to sound not being transmitted properly (conductive hearing loss). Ossicular chain dislocation is also called ossicular chain discontinuity.	SNOMEDCT:87040007|DOID:11129
MONDO:0001194	obsolete rickettsialpox	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001194		
MONDO:0001193	obsolete chorioretinal scar	biolink:Disease	mondo	ICD10:H31.00|ICD10:H31.0|ICD9:363.30|SCTID:53854005|COHD:433196|DOID:11086|ICD9:363.3			http://purl.obolibrary.org/obo/MONDO_0001193		DOID:11086|SNOMEDCT:53854005
NCBITaxon:203397	Rotaliacea	organism taxon	mondo	GC_ID:1		Rotalioidea	http://purl.obolibrary.org/obo/NCBITaxon_203397		
MONDO:0001192	esophageal melanoma	biolink:Disease	mondo	ONCOTREE:ESMM|NCIT:C5707|DOID:1108|UMLS:C1333460		esophageal melanoma|melanoma (disease) of esophagus|esophagus melanoma (disease)|mucosal melanoma of the esophagus|esophagus melanoma|melanoma of esophagus|melanoma of the esophagus	http://purl.obolibrary.org/obo/MONDO_0001192	A melanoma affecting the esophageal wall. Melanoma in the esophagus is more commonly metastatic than primary. Primary melanomas of the esophagus are polypoid and clinically aggressive. (WHO, 2000)	DOID:1108|NCIT:C5707|UMLS:C1333460
MONDO:0001191	hirudiniasis	biolink:Disease	mondo	UMLS:C0019575|DOID:11079|ICD9:134.2|ICD10:B88.3|SCTID:64351000		Hirudinea disease or disorder|leeches|Hirudinea infectious disease|Hirudinea caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0001191	An disease or disorder caused by infection with Hirudinea.	UMLS:C0019575|DOID:11079|SNOMEDCT:64351000
MONDO:0001198	acquired thrombocytopenia	biolink:Disease	mondo	SCTID:74576004|ICD9:287.4|ICD10:D69.5|DOID:11126|COHD:440372|UMLS:C0154301		secondary thrombocytopenia NOS|secondary thrombocytopenia|acquired thrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0001198	An instance of thrombocytopenia that is acquired during the lifetime of the individual.	DOID:11126|UMLS:C0154301|SNOMEDCT:74576004
MONDO:0001197	qualitative platelet defect	biolink:Disease	mondo	ICD9:287.1|SCTID:267532001|ICD10:D69.1|DOID:11125|UMLS:C0235604		qualitative platelet deficiency	http://purl.obolibrary.org/obo/MONDO_0001197		UMLS:C0235604|DOID:11125|SNOMEDCT:267532001
MONDO:0001196	psychologic dyspareunia	biolink:Disease	mondo	SCTID:41021005|MESH:D004414|ICD10:F52.6|ICD9:302.76|DOID:11120		dyspareunia, psychogenic|non-organic dyspareunia	http://purl.obolibrary.org/obo/MONDO_0001196		DOID:11120|MESH:D004414|SNOMEDCT:41021005
MONDO:0001195	spotted fever	biolink:Disease	mondo	ICD10:A77.0|MEDGEN:11567|GARD:0004998|ICD10:A77.9|UMLS:C0038041|ICD10:A77|DOID:11104|ICD10:A77.8|Orphanet:102022|ICD9:082.0|ICD10:A77.3|ICD9:083.8|ICD10:A77.2|SCTID:186771002|ICD10:A77.1	gard_rare|ordo_group_of_disorders	spotted fever Group Rickettsioses|spotted fevers|spotted fever group rickettsial disease|fevers, spotted|spotted fever Group rickettsiosis|spotted fever rickettsiosis|spotted fever|spotted fever rickettsiae disease|fever, spotted	http://purl.obolibrary.org/obo/MONDO_0001195	A type of tick-borne disease which presents on the skin caused by bacteria of the genus Rickettsia.	ORPHA:102022|DOID:11104|SNOMEDCT:186771002|UMLS:C0038041
MONDO:0013169	chromosome 5p13 duplication syndrome	biolink:Disease	mondo	MESH:C567717|Orphanet:329802|ICD10:Q92.3|OMIM:613174|DOID:0060460|UMLS:C2750805	ordo_malformation_syndrome	5p13 microduplication syndrome|trisomy 5p13|chromosome 5p13 duplication syndrome|dup(5)(p13)	http://purl.obolibrary.org/obo/MONDO_0013169	5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).	http://identifiers.org/omim/613174|MESH:C567717|ORPHA:329802|DOID:0060460|UMLS:C2750805
GO:0060123	regulation of growth hormone secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060123	Any process that modulates the frequency, rate or extent of the regulated release of growth hormone from a cell.	
MONDO:0013167	PARK16	biolink:Disease	mondo	MESH:C567726|UMLS:C2751012|OMIM:613164		PARK16|Parkinson disease 16|Parkinson disease 16; PARK16	http://purl.obolibrary.org/obo/MONDO_0013167		http://identifiers.org/omim/613164|MESH:C567726|UMLS:C2751012
GO:0060124	positive regulation of growth hormone secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060124	Any process that increases the frequency, rate or extent of the regulated release of growth hormone from a cell.	
MONDO:0013168	dilated cardiomyopathy 1DD	biolink:Disease	mondo	UMLS:C2750995|MESH:C567725|DOID:0110447|ICD10:I42.0|OMIM:613172		familial isolated dilated cardiomyopathy caused by mutation in RBM20|RBM20 familial isolated dilated cardiomyopathy|CMD1DD|cardiomyopathy, dilated, type 1Dd|cardiomyopathy, dilated, 1DD; CMD1DD|cardiomyopathy, dilated, 1DD|dilated cardiomyopathy type 1DD	http://purl.obolibrary.org/obo/MONDO_0013168	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RBM20 gene.	http://identifiers.org/omim/613172|MESH:C567725|DOID:0110447|UMLS:C2750995
GO:0060125	negative regulation of growth hormone secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060125	Any process that decreases or stops the frequency, rate or extent of the regulated release of growth hormone from a cell.	
MONDO:0001190	Brucella suis brucellosis	biolink:Disease	mondo	DOID:11076		Brucella suis disease or disorder|Brucella suis infectious disease|Brucella suis caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0001190	An disease or disorder caused by infection with Brucella suis.	DOID:11076
MONDO:0013161	autosomal recessive limb-girdle muscular dystrophy type 2O	biolink:Disease	mondo	DOID:0110292|UMLS:C3150417|ICD10:G71.0|GARD:0012540|OMIM:613157|Orphanet:206564	ordo_disease	muscular dystrophy, limb-girdle, type 2O|MDDGC3|autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1|POMGNT1 autosomal recessive limb-girdle muscular dystrophy|LGMD2O|muscular dystrophy-dystroglycanopathy (limb-girdle) type C3|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3; MDDGC3|muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3|muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT1-related|limb-girdle muscular dystrophy type 2O	http://purl.obolibrary.org/obo/MONDO_0013161	Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.	UMLS:C3150417|DOID:0110292|ORPHA:206564|http://identifiers.org/omim/613157
MONDO:0013162	autosomal recessive limb-girdle muscular dystrophy type 2N	biolink:Disease	mondo	Orphanet:206559|GARD:0012539|OMIM:613158|ICD10:G71.0|UMLS:C3150418|DOID:0110298	ordo_disease	muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2|muscular dystrophy, limb-girdle, type 2N|muscular dystrophy-dystroglycanopathy, limb-girdle, Pomt2-related|LGMD2N|autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT2|muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related|limb-girdle muscular dystrophy type 2N|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2; MDDGC2|muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2|MDDGC2|POMT2 autosomal recessive limb-girdle muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0013162	Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability.	DOID:0110298|UMLS:C3150418|ORPHA:206559|http://identifiers.org/omim/613158
MONDO:0013160	muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B2	biolink:Disease	mondo	UMLS:C3150416|OMIM:613156|NCIT:C126690		muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2; MDDGB2|muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 2; MDDGB2|congenital muscular dystrophy-dystroglycanopathy with intellectual disability type B2|congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2|muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2|MDDGB2|muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 2|muscular dystrophy, congenital, Pomt2-related	http://purl.obolibrary.org/obo/MONDO_0013160	An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan.	UMLS:C3150416|NCIT:C126690|http://identifiers.org/omim/613156
MONDO:0013165	hereditary spastic paraplegia 45	biolink:Disease	mondo	ICD10:G11.4|Orphanet:320396|SCTID:765753004|UMLS:CN203996|DOID:0110797|OMIM:613162	ordo_disease	NT5C2 autosomal recessive complex spastic paraplegia|spastic paraplegia 45, autosomal recessive; SPG45|SPG65|autosomal recessive spastic paraplegia type 45|autosomal recessive complex spastic paraplegia caused by mutation in NT5C2|SPG45|spastic paraplegia 45, autosomal recessive|autosomal recessive spastic paraplegia 45|hereditary spastic paraplegia type 45|autosomal recessive spastic paraplegia type 65	http://purl.obolibrary.org/obo/MONDO_0013165	Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported.	http://identifiers.org/omim/613162|UMLS:CN203996|ORPHA:320396|DOID:0110797|SNOMEDCT:765753004
MONDO:0013166	GABA aminotransferase deficiency	biolink:Disease	mondo	Orphanet:2066|SCTID:237941007|ICD10:E72.8|UMLS:C0342708|OMIM:613163|HGNC:23|DOID:0060174|MESH:C535407|GARD:0000194	gard_rare|ordo_disease	4 alpha aminobutyrate transaminase deficiency|gamma-amino butyric acid transaminase deficiency|gamma-aminobutyric acid transaminase deficiency|GABA transaminase deficiency|GABAT|gamma aminobutyric acid transaminase deficiency|gamma aminobutyrate transaminase deficiency|GABA-transaminase deficiency|ABAT	http://purl.obolibrary.org/obo/MONDO_0013166	Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration.	http://identifiers.org/omim/613163|SNOMEDCT:237941007|ORPHA:2066|MESH:C535407|DOID:0060174|UMLS:C0342708
MONDO:0013163	nephronophthisis-like nephropathy 1	biolink:Disease	mondo	OMIM:613159|DOID:0111117|UMLS:C3150419		NPHPL1|nephronophthisis-like nephropathy 1; NPHPL1|nephronophthisis (disease) caused by mutation in XPNPEP3|nephronophthisis-like nephropathy type 1|nephronophthisis-like nephropathy 1|XPNPEP3 nephronophthisis (disease)	http://purl.obolibrary.org/obo/MONDO_0013163	Any nephronophthisis in which the cause of the disease is a mutation in the XPNPEP3 gene.	DOID:0111117|UMLS:C3150419|http://identifiers.org/omim/613159
MONDO:0013164	beta-ureidopropionase deficiency	biolink:Disease	mondo	MESH:C563210|Orphanet:65287|UMLS:C1291512|SCTID:124511000|ICD9:277.6|OMIM:613161|ICD10:E79.8	ordo_disease	BETA-ureidopropionase deficiency; UPB1D|Beta-alanine synthase deficiency|UPB1D|beta-ureidopropionase deficiency	http://purl.obolibrary.org/obo/MONDO_0013164	Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal).	SNOMEDCT:124511000|MESH:C563210|ORPHA:65287|UMLS:C1291512|http://identifiers.org/omim/613161
ENVO:01000875	precipitation process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000875	A precipitation process is a process in which a portion of some substance segregates from a material in which that substance or its precursors were dissolved or suspended in and settles due to a force such as gravity or centrifugal force.	
GO:1902339	positive regulation of apoptotic process involved in morphogenesis	biolink:OntologyClass	mondo			activation of morphogenetic apoptosis|up regulation of apoptosis involved in development|up regulation of apoptosis involved in morphogenesis|positive regulation of apoptosis involved in morphogenesis|up-regulation of apoptotic process involved in morphogenesis|positive regulation of apoptosis involved in development|up-regulation of morphogenetic apoptosis|up regulation of apoptotic process involved in morphogenesis|upregulation of apoptosis involved in morphogenesis|upregulation of apoptosis involved in development|up regulation of morphogenetic apoptosis|activation of apoptotic process involved in morphogenesis|activation of apoptosis involved in morphogenesis|activation of apoptosis involved in development|positive regulation of morphogenetic apoptosis|upregulation of apoptotic process involved in morphogenesis|up-regulation of apoptosis involved in morphogenesis|up-regulation of apoptosis involved in development|upregulation of morphogenetic apoptosis	http://purl.obolibrary.org/obo/GO_1902339	Any process that activates or increases the frequency, rate or extent of apoptotic process involved in morphogenesis.	
GO:1902337	regulation of apoptotic process involved in morphogenesis	biolink:OntologyClass	mondo			regulation of morphogenetic apoptosis|regulation of apoptosis involved in morphogenesis|regulation of apoptosis involved in development	http://purl.obolibrary.org/obo/GO_1902337	Any process that modulates the frequency, rate or extent of apoptotic process involved in morphogenesis.	
GO:1902338	negative regulation of apoptotic process involved in morphogenesis	biolink:OntologyClass	mondo			down regulation of apoptotic process involved in morphogenesis|down regulation of morphogenetic apoptosis|inhibition of apoptosis involved in morphogenesis|inhibition of apoptosis involved in development|inhibition of apoptotic process involved in morphogenesis|downregulation of apoptotic process involved in morphogenesis|downregulation of morphogenetic apoptosis|negative regulation of apoptosis involved in morphogenesis|negative regulation of apoptosis involved in development|down-regulation of apoptosis involved in morphogenesis|down-regulation of apoptosis involved in development|inhibition of morphogenetic apoptosis|down regulation of apoptosis involved in development|down regulation of apoptosis involved in morphogenesis|down-regulation of apoptotic process involved in morphogenesis|downregulation of apoptosis involved in morphogenesis|down-regulation of morphogenetic apoptosis|negative regulation of morphogenetic apoptosis|downregulation of apoptosis involved in development	http://purl.obolibrary.org/obo/GO_1902338	Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic process involved in morphogenesis.	
GO:1902340	negative regulation of chromosome condensation	biolink:OntologyClass	mondo			down regulation of nuclear chromosome condensation|down-regulation of chromosome condensation|downregulation of eukaryotic chromosome condensation|downregulation of nuclear chromosome condensation|inhibition of nuclear chromosome condensation|down regulation of chromosome condensation|down regulation of eukaryotic chromosome condensation|inhibition of eukaryotic chromosome condensation|downregulation of chromosome condensation|inhibition of chromosome condensation|down-regulation of eukaryotic chromosome condensation|negative regulation of eukaryotic chromosome condensation|negative regulation of nuclear chromosome condensation|down-regulation of nuclear chromosome condensation	http://purl.obolibrary.org/obo/GO_1902340	Any process that stops, prevents or reduces the frequency, rate or extent of chromosome condensation.	
GO:0060156	milk ejection reflex	biolink:OntologyClass	mondo			milk ejection	http://purl.obolibrary.org/obo/GO_0060156	A reflex that occurs in response to suckling, beginning with a nerve impulse from a receptor in the mammary gland and ending with the ejection of milk from the gland. Signaling never reaches a level of consciousness.	
NCBITaxon:37816	Rickettsia honei	organism taxon	mondo	PMID:8735110|GC_ID:11|PMID:9828442		Flinders Island spotted fever rickettsia|Thai tick typhus rickettsia	http://purl.obolibrary.org/obo/NCBITaxon_37816		
UBERON_CORE:indirectly_supplies	indirectly_supplies	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/uberon/core#indirectly_supplies	a indirectly_supplies s iff a has a branch and the branch supplies or indirectly supplies s	
HP:0010929	Abnormal blood cation concentration	biolink:PhenotypicFeature	mondo	UMLS:C4023646		Abnormality of cation homeostasis	http://purl.obolibrary.org/obo/HP_0010929	An abnormality of cation homeostasis.	
HP:0010927	Abnormal blood inorganic cation concentration	biolink:PhenotypicFeature	mondo	UMLS:C4023648		Abnormality of divalent inorganic cation homeostasis	http://purl.obolibrary.org/obo/HP_0010927	An abnormality of divalent inorganic cation homeostasis.	
NCBITaxon:2601530	Eutetramitia	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2601530		
GO:0098772	molecular function regulator	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0098772	A molecular function that modulates the activity of a gene product or complex.  Examples include enzyme regulators and channel regulators.	
GO:0098773	skin epidermis development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0098773	The process whose specific outcome is the progression of the skin epidermis over time, from its formation to the mature structure.	
NCBITaxon:2601529	Tetramitia	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2601529		
GO:0098771	inorganic ion homeostasis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0098771	Any process involved in the maintenance of an internal steady state of inorganic ions within an organism or cell.	
ENVO:01000869	area of scrub	biolink:OntologyClass	mondo			area of shrub	http://purl.obolibrary.org/obo/ENVO_01000869	An area of a planet's surface which is primarily covered by a shrubs, young trees, or stunted trees.. The surfaces of this area are in contact with an atmospheric column extending from the planetary boundary layer to the planet's exosphere with little to no physical obstruction.	
HP:0010914	Abnormal circulating valine concentration	biolink:PhenotypicFeature	mondo	UMLS:C4023656		Abnormality of valine metabolism	http://purl.obolibrary.org/obo/HP_0010914	Any deviation from the normal circulation of valine in the blood circulation.	
HP:0010911	Hyperleucinemia	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:24013007|UMLS:C0268576		High blood leucine concentration	http://purl.obolibrary.org/obo/HP_0010911	An increased concentration of leucine in the blood.	
HP:0010910	Hypervalinemia	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:47719001|MSH:C536524|UMLS:C0268573		High blood valine concentration	http://purl.obolibrary.org/obo/HP_0010910	An increased concentration of valine in the blood.	
HP:0010919	Abnormal circulating homocysteine concentration	biolink:PhenotypicFeature	mondo	UMLS:C4023651			http://purl.obolibrary.org/obo/HP_0010919	An abnormality of a homocysteine metabolic process.	
NCBITaxon:1399770	Entomophthoromycetes	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1399770		
HP:0010917	Abnormal circulating tyrosine concentration	biolink:PhenotypicFeature	mondo	UMLS:C4023653			http://purl.obolibrary.org/obo/HP_0010917	Any deviation from the normal concentration of tyrosine in the blood circulation.	
ENVO:01000895	snowfall	biolink:OntologyClass	mondo			snow fall	http://purl.obolibrary.org/obo/ENVO_01000895	A hydrological process in which irregular aggregates of snow fall to a planetary surface.	
MONDO:0025193	oculopharyngodistal myopathy	biolink:Disease	mondo	MESH:C563508|GARD:0012592|SCTID:763829004|ICD10:G71.0|OMIMPS:164310|UMLS:C1834014|Orphanet:98897	gard_rare|ordo_disease|ordo_inheritance_inconsistent	oculopharyngodistal myopathy; OPDM|oculopharyngeal distal myopathy|oculopharyngodistal myopathy|OPDM|faciooculolaryngopharyngeal myopathy with distal and respiratory involvement	http://purl.obolibrary.org/obo/MONDO_0025193	Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown.	MESH:C563508|UMLS:C1834014|ORPHA:98897|SNOMEDCT:763829004
HGNC:12399	MYOT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12399		
MONDO:0025190		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0025190		
ENVO:01000887	area of sedge- and forb-dominated herbaceous vegetation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000887	An area of a planet's surface which is primarily covered by sedges or forbs, possibly interpersed with grasses or grass-like plants. This area is in contact with an atmospheric column extending from the planetary boundary layer to the planet's exosphere with little to no physical obstruction.	
ENVO:01000888	area of gramanoid or herbaceous vegetation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000888	An area of a planet's surface which is primarily covered by gramanoid or herbaceous vegetation and which is not subject to intensive management by humans. This area is in contact with an atmospheric column extending from the planetary boundary layer to the planet's exosphere with little to no physical obstruction.	
ENVO:01000883	area of developed open space	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000883	An area of a planet's surface which is primarily covered by cultivated or anthropically maintained vegetation planted for recreation, erosion control, or aesthetic purposes interspersed by constructed or manufactured objects and materials. This area is in contact with an atmospheric column extending from the planetary boundary layer to the planet's exosphere with little to no physical obstruction.	
MONDO:0040797	obsolete vascular headache	biolink:Disease	mondo	UMLS:C0042376|SCTID:128187005|MESH:D014653		vascular headache	http://purl.obolibrary.org/obo/MONDO_0040797	An outdated term to describe certain types of headache which were thought to be related to blood vessel swelling and hyperemia as cause of pain. it is no longer a recognized term and not mentioned in the Headache classification of the International Headache society (IHS).	SNOMEDCT:128187005|MESH:D014653|UMLS:C0042376
GO:0098754	detoxification	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0098754	Any process that reduces or removes the toxicity of a toxic substance. These may include transport of the toxic substance away from sensitive areas and to compartments or complexes whose purpose is sequestration of the toxic substance.	
MONDO:0003788	childhood embryonal testis carcinoma	biolink:Disease	mondo	NCIT:C6545|UMLS:C1333007|DOID:6162		childhood testicular embryonal carcinoma|testicular embryonal carcinoma of childhood|pediatric testicular embryonal carcinoma|pediatric embryonal carcinoma of testis|pediatric embryonal carcinoma of the testis|childhood embryonal carcinoma of the testis|pediatric testicular embryonal carcinoma|childhood embryonal carcinoma of testis	http://purl.obolibrary.org/obo/MONDO_0003788	An embryonal carcinoma that arises from the testis during childhood.	NCIT:C6545|UMLS:C1333007|DOID:6162
MONDO:0001125	acute gonococcal epididymo-orchitis	biolink:Disease	mondo	SCTID:30168008|ICD9:098.13|UMLS:C0153193|DOID:10802		gonococcal epididymo-orchitis (acute)|gonococcal epididymo-orchitis, acute|gonococcal epididymo-orchitis	http://purl.obolibrary.org/obo/MONDO_0001125	Acute form of gonococcal epididymo-orchitis.	SNOMEDCT:30168008|UMLS:C0153193|DOID:10802
MONDO:0003789	hereditary papillary renal cell carcinoma	biolink:Disease	mondo	NCIT:C9222|DOID:6163|UMLS:C0879257|SCTID:715561008		hereditary papillary renal cell carcinoma|Hereditary Papillary renal cell cancer|hereditary papillary carcinoma of kidney|hereditary papillary carcinoma of the kidney|familial renal papillary carcinoma|hereditary papillary renal carcinoma|hereditary kidney papillary carcinoma	http://purl.obolibrary.org/obo/MONDO_0003789	A familial carcinoma inherited in an autosomal dominant trait. It is characterized by the development of multiple, bilateral papillary renal cell carcinomas. The carcinomas range from microscopic lesions to clinically symptomatic tumors. It is associated with activating mutations of the MET oncogene.	UMLS:C0879257|DOID:6163|NCIT:C9222|SNOMEDCT:715561008
MONDO:0001124	obsolete filariasis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001124		
MONDO:0001123	chronic sphenoidal sinusitis	biolink:Disease	mondo	COHD:134661|NCIT:C34480|DOID:10793|UMLS:C0008712|ICD10:J32.3|SCTID:38961000|ICD9:473.3		chronic sphenoid sinusitis|sphenoidal sinus-chr.|sphenoid sinusitis, chronic	http://purl.obolibrary.org/obo/MONDO_0001123	Inflammation of the sphenoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.	UMLS:C0008712|DOID:10793|SNOMEDCT:38961000|NCIT:C34480
MONDO:0001122	chronic maxillary sinusitis	biolink:Disease	mondo	UMLS:C0008698|SCTID:35923002|DOID:10792|COHD:134668|ICD10:J32.0|NCIT:C34477|ICD9:473.0		maxillary sinusitis, chronic|chronic antritis	http://purl.obolibrary.org/obo/MONDO_0001122	Inflammation of the maxillary sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.	DOID:10792|SNOMEDCT:35923002|NCIT:C34477|UMLS:C0008698
MONDO:0003784	nasal cavity carcinoma in situ	biolink:Disease	mondo	DOID:6148|ICD9:231.8|ICD10:D02.3|NCIT:C4589|SCTID:92663007|UMLS:C0347095		stage 0 nasal cavity carcinoma aJCC v8|carcinoma in situ of the nasal cavity|stage 0 nasal cavity carcinoma aJCC v7|stage 0 nasal cavity cancer|stage 0 nasal cavity carcinoma aJCC v6|stage 0 carcinoma of nasal cavity|carcinoma in situ of nasal cavity|stage 0 nasal cavity cancer aJCC v6, v7, and v8|stage 0 nasal cavity carcinoma|stage 0 carcinoma of the nasal cavity|nasal cavity carcinoma in situ|nasal cavity in situ carcinoma|carcinoma in situ of nasal cavities	http://purl.obolibrary.org/obo/MONDO_0003784	A in situ carcinoma that involves the nasal cavity.	SNOMEDCT:92663007|UMLS:C0347095|NCIT:C4589|DOID:6148
MONDO:0001129	nasal cavity olfactory neuroblastoma	biolink:Disease	mondo	DOID:10812|UMLS:C1334923|NCIT:C7604		olfactory neuroblastoma of nasal cavity|olfactory neuroblastoma of the nasal cavity|nasal cavity olfactory neuroblastoma	http://purl.obolibrary.org/obo/MONDO_0001129	An olfactory neuroblastoma arising in the nasal cavity.	NCIT:C7604|DOID:10812|UMLS:C1334923
MONDO:0003785	leukopenia	biolink:Disease	mondo	EFO:0004233|ICD10:D72.819|SCTID:84828003|COHD:435224|NCIT:C26816|UMLS:C0023530|ICD9:288.50|MESH:D007970|DOID:615		White blood cell decreased|leucopenia|leukocytopenia	http://purl.obolibrary.org/obo/MONDO_0003785	A laboratory test result indicating a decreased number of white blood cells in the peripheral blood.	UMLS:C0023530|SNOMEDCT:84828003|MESH:D007970|NCIT:C26816|DOID:615
MONDO:0001128	nasal cavity cancer	biolink:Disease	mondo	DOID:10811|ICD10:C30.0|UMLS:C0728864|SCTID:363422006|NCIT:C4918|ICD9:160.0|COHD:4177107		malignant tumor of nasal cavity|malignant neoplasm of nasal cavities|cancer of nasal cavity|malignant tumor of the nasal cavity|malignant neoplasm of nasal cavity|malignant nasal cavity neoplasm|nasal cavity cancer|malignant neoplasm of the nasal cavity|malignant nasal cavity tumor	http://purl.obolibrary.org/obo/MONDO_0001128	A malignant neoplasm involving the nasal cavity	SNOMEDCT:363422006|UMLS:C0728864|NCIT:C4918|DOID:10811
MONDO:0003786	childhood testicular choriocarcinoma	biolink:Disease	mondo	UMLS:C1333006|NCIT:C6544|DOID:6160		pediatric choriocarcinoma of the testis|childhood choriocarcinoma of testis|pediatric choriocarcinoma of testis|childhood choriocarcinoma of the testis|choriocarcinoma of testis of childhood|childhood testicular choriocarcinoma|pediatric choriocarcinoma of testis|pediatric testicular choriocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003786	A choriocarcinoma that arises from the testis during childhood.	NCIT:C6544|UMLS:C1333006|DOID:6160
MONDO:0001127	tibialis tendinitis	biolink:Disease	mondo	DOID:10810|ICD9:726.72|SCTID:50127006|UMLS:C0158321|COHD:77081		tendinitis of tibialis|tibialis tendinitis	http://purl.obolibrary.org/obo/MONDO_0001127	A tendinitis that involves the tibialis.	SNOMEDCT:50127006|DOID:10810|UMLS:C0158321
MONDO:0003787	childhood testicular mixed germ cell cancer	biolink:Disease	mondo	NCIT:C6542|DOID:6161|UMLS:C1333009		childhood testicular mixed germ cell neoplasm|pediatric mixed testicular germ cell cancer|pediatric mixed testicular germ cell cancer|childhood testicular mixed germ cell tumor|childhood mixed testicular germ cell cancer|pediatric testicular mixed germ cell neoplasm|pediatric testicular mixed germ cell tumor|mixed testicular germ cell cancer of childhood	http://purl.obolibrary.org/obo/MONDO_0003787	A malignant mixed germ cell neoplasm that arises from the testis during childhood.	NCIT:C6542|UMLS:C1333009|DOID:6161
MONDO:0001126	gastric ulcer (disease)	biolink:Disease	mondo	NCIT:C3388|MESH:D013276|ICD9:531|SCTID:397825006|DOID:10808|HP:0002592|UMLS:C0038358|ICD10:K25|COHD:4265600		acute gastric ulcer with hemorrhage and obstruction|chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction|acute gastric ulcer with hemorrhage and with perforation but without obstruction|acute gastric ulcer with perforation|chronic gastric ulcer without hemorrhage and without perforation but with obstruction|acute gastric ulcer with hemorrhage and perforation|acute gastric ulcer with hemorrhage, with perforation and with obstruction|acute gastric ulcer with haemorrhage and perforation|acute gastric ulcer without hemorrhage, without perforation and without obstruction|acute gastric ulcer with perforation, with obstruction|peptic ulcer disease of stomach|stomach peptic ulcer disease|acute gastric ulcer with perforation and obstruction|acute gastric ulcer without hemorrhage and without perforation|acute gastric ulcer with hemorrhage and perforation, with obstruction|acute gastric ulcer with hemorrhage, with obstruction|gastric ulcer|acute gastric ulcer with hemorrhage and perforation, without mention of obstruction|bleeding acute gastric ulcer|chronic gastric ulcer without hemorrhage and without perforation|acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction	http://purl.obolibrary.org/obo/MONDO_0001126	An ulcerated lesion in the mucosal surface of the stomach. It may progress to involve the deeper layers of the gastric wall.	SNOMEDCT:397825006|NCIT:C3388|DOID:10808|MESH:D013276|UMLS:C0038358
HGNC:7160	MMP14	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7160		
NCBITaxon:11229	Morbillivirus	organism taxon	mondo	GC_ID:1		Morbilliviruses	http://purl.obolibrary.org/obo/NCBITaxon_11229		
MONDO:0003780	T-cell immunodeficiency	biolink:Disease	mondo	UMLS:C1274233|DOID:613|NCIT:C27145|SCTID:402792003		T lymphocyte deficiency|T-lymphocyte deficiency (finding)|T-cell immunodeficiency|T-lymphocyte deficiency|T-lymphocyte immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0003780	A broad classification of disorders that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective.	UMLS:C1274233|DOID:613|SNOMEDCT:402792003|NCIT:C27145
MONDO:0003781	bronchitis	biolink:Disease	mondo	CSP:2596-1500|ICD10:J42|ICD10:J20|COHD:256451|ICD10:J40|DOID:6132|UMLS:C0006277|ICD10:J20.9|EFO:0009661|ICD9:491|ICD9:491.9|NCIT:C2911|ICD9:490|SCTID:32398004|ICD9:466.0|MESH:D001991		bronchus inflammation|CI - chest infection|inflammation of bronchus|acute bronchitis|bronchial infection|chest infection|chest cold|acute bronchitis and bronchiolitis|recurrent wheezy bronchitis|chronic bronchitis	http://purl.obolibrary.org/obo/MONDO_0003781	An acute or chronic inflammatory process affecting the bronchi.	DOID:6132|NCIT:C2911|SNOMEDCT:32398004|MESH:D001991|UMLS:C0006277
MONDO:0003782	uterine corpus epithelioid leiomyosarcoma	biolink:Disease	mondo	ONCOTREE:UELMS|NCIT:C40174|UMLS:C1519851|DOID:6139		uterine corpus epithelioid leiomyosarcoma|body of uterus epithelioid leiomyosarcoma|epithelioid leiomyosarcoma of body of uterus|uterine epithelioid leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003782	A morphologic variant of leiomyosarcoma arising from the uterine corpus. It is characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm.	UMLS:C1519851|DOID:6139|NCIT:C40174
MONDO:0013109	leukemia, acute lymphocytic, susceptibility to, 2	biolink:Disease	mondo	OMIM:613067|UMLS:C2751593	predisposition	leukemia, acute lymphoblastic, susceptibility to, 2; ALL2|leukemia, acute lymphoblastic, susceptibility to, 2|leukemia, acute lymphocytic, susceptibility to, 2|ALL2	http://purl.obolibrary.org/obo/MONDO_0013109		UMLS:C2751593|http://identifiers.org/omim/613067
MONDO:0003783	lymphopenia (disease)	biolink:Disease	mondo	SCTID:48813009|ICD9:288.8|UMLS:C0024312|ICD10:D72.810|ICD9:288.51|HP:0001888|DOID:614|MESH:D008231|COHD:441541		lymphocytopenia|lymphopenia	http://purl.obolibrary.org/obo/MONDO_0003783	Reduction in the number of lymphocytes.	SNOMEDCT:48813009|MESH:D008231|DOID:614|UMLS:C0024312
MONDO:0001121	frontal sinusitis	biolink:Disease	mondo	MESH:D015522|SCTID:78737005|DOID:10791|NCIT:C34626|ICD10:J32.1|UMLS:C0016735			http://purl.obolibrary.org/obo/MONDO_0001121	An acute or chronic inflammatory process affecting the mucous membrane of the frontal sinus.	SNOMEDCT:78737005|DOID:10791|UMLS:C0016735|MESH:D015522|NCIT:C34626
MONDO:0027751	serpinopathy with loss of serpin function	biolink:Disease	mondo	Orphanet:250811	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0027751		ORPHA:250811
GO:0050709	negative regulation of protein secretion	biolink:OntologyClass	mondo			down-regulation of protein secretion|down regulation of protein secretion|inhibition of protein secretion|downregulation of protein secretion	http://purl.obolibrary.org/obo/GO_0050709	Any process that stops, prevents, or reduces the frequency, rate or extent of the controlled release of a protein from a cell.	
ENVO:2100000	anatomical entity environment	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_2100000	An environment which is determined by an anatomical entity.	
MONDO:0001120	chronic frontal sinusitis	biolink:Disease	mondo	NCIT:C34473|COHD:139841|DOID:10790|ICD9:473.1|ICD10:J32.1|UMLS:C0008683|SCTID:60130002		frontal sinusitis, chronic	http://purl.obolibrary.org/obo/MONDO_0001120	Inflammation of the frontal sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.	DOID:10790|NCIT:C34473|SNOMEDCT:60130002|UMLS:C0008683
GO:0050708	regulation of protein secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0050708	Any process that modulates the frequency, rate or extent of the controlled release of a protein from a cell.	
MONDO:0027750	serpinopathy with toxic serpin polymerization	biolink:Disease	mondo	Orphanet:250808	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0027750		ORPHA:250808
MONDO:0015777	adult hypothyroidism	biolink:Disease	mondo	Orphanet:177101|UMLS:CN226738	ordo_group_of_disorders	rare adult hypothyroidism	http://purl.obolibrary.org/obo/MONDO_0015777	A hypothyroidism that occurs in an adult.	ORPHA:177101|UMLS:CN226738
MONDO:0013114	autosomal dominant nonsyndromic deafness 50	biolink:Disease	mondo	DOID:0110576|OMIM:613074|ICD10:H90.3	clingen	deafness, autosomal dominant type 50|deafness, autosomal dominant 50; DFNA50|DFNA50|autosomal dominant deafness 50|deafness, autosomal dominant 50|autosomal dominant nonsyndromic deafness type 50	http://purl.obolibrary.org/obo/MONDO_0013114	An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has material basis in mutation in the MIRN96 gene on chromosome 7q32.	DOID:0110576|http://identifiers.org/omim/613074
MONDO:0013115	RIN2 syndrome	biolink:Disease	mondo	OMIM:613075|ICD10:Q82.8|Orphanet:217335|MESH:C567770|SCTID:723367005|UMLS:C2751321	ordo_malformation_syndrome	tall forehead, sparse hair, skin hyperextensibility, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|macrocephaly, alopecia, cutis laxa, and scoliosis|MACS syndrome|RIN2 deficiency	http://purl.obolibrary.org/obo/MONDO_0013115	RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported.	UMLS:C2751321|ORPHA:217335|SNOMEDCT:723367005|http://identifiers.org/omim/613075|MESH:C567770
MONDO:0015776	rhizomelic chondrodysplasia punctata	biolink:Disease	mondo	UMLS:C0282529|DOID:2580|ICD10:E71.540|OMIMPS:215100|SCTID:56692003|Orphanet:177|GARD:0013160|NCIT:C85047|MESH:D018902|ICD10:Q77.3	ordo_disease|gard_rare	RCDP|rhizomelic chondrodysplasia punctata syndrome|chondrodysplasia punctata, rhizomelic form|rhizomelic dwarfism	http://purl.obolibrary.org/obo/MONDO_0015776	Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth.	NCIT:C85047|DOID:2580|MESH:D018902|SNOMEDCT:56692003|ORPHA:177|UMLS:C0282529
MONDO:0013112	bronchiectasis with or without elevated sweat chloride 3	biolink:Disease	mondo	MESH:C567772|DOID:0080528|UMLS:C2751324|OMIM:613071		BESC3|bronchiectasis with or without elevated sweat chloride 3|bronchiectasis with or without elevated sweat chloride 3; BESC3|bronchiectasis with or without elevated sweat chloride type 3|SCNN1G bronchiectasis|bronchiectasis caused by mutation in SCNN1G|cystic fibrosis-like syndrome	http://purl.obolibrary.org/obo/MONDO_0013112	Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1G gene.	UMLS:C2751324|http://identifiers.org/omim/613071|MESH:C567772|DOID:0080528
CHEBI:62488	signalling molecule	biolink:ChemicalSubstance	mondo			signaling molecules|signal molecules|signal molecule|signaling molecule|signalling molecules	http://purl.obolibrary.org/obo/CHEBI_62488	A molecular messenger in which the molecule is specifically involved in transmitting information between cells. Such molecules are released from the cell sending the signal, cross over the gap between cells by diffusion, and interact with specific receptors in another cell, triggering a response in that cell by activating a series of enzyme controlled reactions which lead to changes inside the cell.	
MONDO:0015775	non-rhizomelic chondrodysplasia punctata	biolink:Disease	mondo	Orphanet:176|ICD10:Q77.3	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015775	Nonrhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of diseases in which the common characteristic is bone calcifications near joints from birth. Nonrhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission.	ORPHA:176
MONDO:0013113	metaphyseal anadysplasia 2	biolink:Disease	mondo	MESH:C567771|OMIM:613073|UMLS:C2751322		metaphyseal anadysplasia type 2|metaphyseal anadysplasia 2; MANDP2|metaphyseal anadysplasia caused by mutation in MMP9|MMP9 metaphyseal anadysplasia|MANDP2|metaphyseal anadysplasia 2	http://purl.obolibrary.org/obo/MONDO_0013113	Any metaphyseal anadysplasia in which the cause of the disease is a mutation in the MMP9 gene.	UMLS:C2751322|http://identifiers.org/omim/613073|MESH:C567771
MONDO:0015774	thoraco-abdominal enteric duplication	biolink:Disease	mondo	SCTID:733628001|Orphanet:1759|GARD:0005181|ICD10:Q43.4	ordo_malformation_syndrome|gard_rare	thoraco abdominal enteric duplication	http://purl.obolibrary.org/obo/MONDO_0015774	Thoraco-abdominal enteric duplication is a rare, syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or malena. Vertebral anomalies in the lower cervical spine, with CNS involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported.	SNOMEDCT:733628001|ORPHA:1759
MONDO:0013118	Nijmegen breakage syndrome-like disorder	biolink:Disease	mondo	OMIM:613078|Orphanet:240760|NCIT:C153178|SCTID:766753005|UMLS:C2751318|MESH:C567767	ordo_malformation_syndrome	NBSLD|Nijmegen breakage syndrome-like disorder; NBSLD|NBs-like disorder|NBs-like disorder|microcephaly and chromosomal instability without immunodeficiency|RAD50 deficiency|Rad50 deficiency|microcephaly and spontaneous chromosome instability without immunodeficiency|Nijmegen breakage syndrome-like disorder	http://purl.obolibrary.org/obo/MONDO_0013118	Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.	UMLS:C2751318|ORPHA:240760|NCIT:C153178|http://identifiers.org/omim/613078|SNOMEDCT:766753005|MESH:C567767
MONDO:0013119	autosomal recessive nonsyndromic deafness 77	biolink:Disease	mondo	ICD10:H90.3|UMLS:C2746083|OMIM:613079|MESH:C567543|DOID:0110525		autosomal recessive deafness 77|autosomal recessive nonsyndromic deafness caused by mutation in LOXHD1|deafness, autosomal recessive type 77|LOXHD1 autosomal recessive nonsyndromic deafness|DFNB77|deafness, autosomal recessive 77; DFNB77|deafness, autosomal recessive 77|autosomal recessive nonsyndromic deafness type 77	http://purl.obolibrary.org/obo/MONDO_0013119	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LOXHD1 gene.	UMLS:C2746083|DOID:0110525|http://identifiers.org/omim/613079|MESH:C567543
MONDO:0015779	45,X/46,XY mixed gonadal dysgenesis	biolink:Disease	mondo	Orphanet:1772|ICD10:Q98.7|DOID:0080656|NCIT:C120199	ordo_malformation_syndrome	45,X0/46,XY mixed gonadal dysgenesis|45,X/46,XY disorder of Sex development|45,X0/46,XY MGD|XY/X0|45,X/46,XY gonadal dysgenesis|Mixed gonadal dysgenesis|45,X/46,XY MGD	http://purl.obolibrary.org/obo/MONDO_0015779	45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development.	NCIT:C120199|DOID:0080656|ORPHA:1772
MONDO:0013116	congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	biolink:Disease	mondo	OMIM:613076|UMLS:C2751320|Orphanet:330054|ICD10:G71.3|MESH:C567769|GARD:0010522	ordo_disease	myopathy with cataract and combined respiratory-chain deficiency|myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay|mitochondrial Complex deficiency, combined|myopathy with cataract and combined respiratory chain deficiency|congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome	http://purl.obolibrary.org/obo/MONDO_0013116		ORPHA:330054|UMLS:C2751320|http://identifiers.org/omim/613076|MESH:C567769
MONDO:0013117	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	biolink:Disease	mondo	OMIM:613077|UMLS:C2751319|MESH:C567768|DOID:0111518		PEOA5|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 5|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5; PEOA5|RRM2B progressive external ophthalmoplegia with mitochondrial DNA deletions|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5|progressive external ophthalmoplegia, autosomal dominant 5|progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RRM2B	http://purl.obolibrary.org/obo/MONDO_0013117	Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RRM2B gene.	DOID:0111518|UMLS:C2751319|http://identifiers.org/omim/613077|MESH:C567768
MONDO:0015778	syndromic hypothyroidism	biolink:Disease	mondo	UMLS:CN226739|Orphanet:177107	ordo_group_of_disorders	syndrome associated with hypothyroidism|syndromic hypothyroidism|syndrome associated with hypothyroidism	http://purl.obolibrary.org/obo/MONDO_0015778	A hypothyroidism that is part of a larger syndrome.	ORPHA:177107|UMLS:CN226739
HGNC:12372	TSHB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12372		
HGNC:12371	RSPH1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12371		
MONDO:0040728	Campylobacter fetus infectious disease	biolink:Disease	mondo	SCTID:111835002|UMLS:C0275979		infection caused by vibrio fetus|infection caused by Campylobacter fetus|infection by vibrio fetus|infection by Campylobacter fetus	http://purl.obolibrary.org/obo/MONDO_0040728		UMLS:C0275979|SNOMEDCT:111835002
HGNC:7165	MMP19	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7165		
HGNC:12370	CEP41	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12370		
MONDO:0001119	premature menopause	biolink:Disease	mondo	ICD9:256.31|ICD10:E28.31|SCTID:237788002|ICD9:256.39|DOID:10787|NCIT:C80099|MESH:D008594|COHD:198715|UMLS:C0025322|ICD10:E28.319		early menopause|menopause praecox|POF|premature menopause|premature ovarian failure|menopause - premature	http://purl.obolibrary.org/obo/MONDO_0001119	Cessation of menstruation before the age of 40. Symptoms include hot flashes, night sweats, mood swings, and decreased sex drive.	NCIT:C80099|UMLS:C0025322|MESH:D008594|SNOMEDCT:237788002|DOID:10787
MONDO:0015773	fibular dimelia-diplopodia syndrome	biolink:Disease	mondo	UMLS:CN200350|Orphanet:1757|ICD10:Q74.8|SCTID:720953006	ordo_malformation_syndrome	leg duplication-mirror foot syndrome	http://purl.obolibrary.org/obo/MONDO_0015773	Fibular dimelia-diplopodia syndrome is a rare developmental anomaly.	SNOMEDCT:720953006|UMLS:CN200350|ORPHA:1757
HGNC:7167	MMP20	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7167		
MONDO:0013110	neurodegenerative syndrome due to cerebral folate transport deficiency	biolink:Disease	mondo	DOID:0050719|MESH:C567791|GARD:0010594|ICD9:266.2|OMIM:613068|SCTID:711403001|Orphanet:217382|ICD10:G31.8	ordo_disease	cerebral folate transport deficiency|neurodegeneration due to cerebral folate TRANSPORT deficiency|cerebral folate deficiency syndrome|cerebral folate receptor alpha deficiency	http://purl.obolibrary.org/obo/MONDO_0013110		SNOMEDCT:711403001|ORPHA:217382|http://identifiers.org/omim/613068|MESH:C567791|DOID:0050719
MONDO:0013111	acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	biolink:Disease	mondo	UMLS:C3278664|Orphanet:217371|OMIM:613070|ICD10:K72.0|GARD:0010593	ordo_disease	transient infantile liver failure|acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins|acute infantile liver failure|infantile liver failure caused by mutation in TRMU|liver failure, infantile, transient|liver failure, infantile, transient; LFIT|LFIT|TRMU infantile liver failure	http://purl.obolibrary.org/obo/MONDO_0013111	Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia.	UMLS:C3278664|ORPHA:217371|http://identifiers.org/omim/613070
MONDO:0015772	trisomy 8q	biolink:Disease	mondo	GARD:0005362|MESH:C538020|NCIT:C36428|UMLS:C0795829|Orphanet:1752|ICD10:Q92.2	ordo_malformation_syndrome	8q duplication|partial trisomy 8q|Duplication 8q|trisomy type 8q|chromosome 8q duplication|8q trisomy	http://purl.obolibrary.org/obo/MONDO_0015772	Trisomy 8q is a very rare disorder characterized by duplication of the long arm of chromosome 8. The most commonly associated abnormalities include low birth weight, craniofacial abnormalities (prominent forehead, flat occiput, hypertelorism, upslanting palpebral fissures, ear and nose deformities, thin upper lips), congenital heart defects, skeletal defects, psychomotor retardation. Phenotypic features vary in relation to the duplication size.	MESH:C538020|NCIT:C36428|UMLS:C0795829|ORPHA:1752
HGNC:7166	MMP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7166		
MONDO:0015771	mosaic trisomy 7	biolink:Disease	mondo	GARD:0005354|ICD10:Q92.1|Orphanet:1747|MESH:C537822|SCTID:764630003|UMLS:CN036006	gard_rare|ordo_malformation_syndrome	trisomy 7 mosaicism|Mosaic trisomy chromosome 7|Mosaic trisomy type 7	http://purl.obolibrary.org/obo/MONDO_0015771	Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported.	UMLS:C2931631|SNOMEDCT:764630003|ORPHA:1747|MESH:C537822|UMLS:CN036006
MONDO:0015770	congenital hypogonadotropic hypogonadism	biolink:Disease	mondo	Orphanet:174590|SCTID:722944006|NCIT:C120162|ICD10:E23.0|UMLS:C3899503	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015770	Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH).	SNOMEDCT:722944006|NCIT:C120162|UMLS:C3899503|ORPHA:174590
HGNC:12373	TSHR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12373		
MONDO:0003799	conjunctivitis (disease)	biolink:Disease	mondo	ICD10:H10|ICD9:372.39|UMLS:C0009763|MESH:D003231|ICD10:H10.9|HP:0000509|DOID:6195|NCIT:C34504|ICD9:372.30|COHD:379019|SCTID:9826008		conjunctivitis|conjunctiva inflammation|inflammation of conjunctiva|pink eye|Madras eye	http://purl.obolibrary.org/obo/MONDO_0003799	Inflammation of the conjunctiva of the eye.	MESH:D003231|SNOMEDCT:9826008|DOID:6195|NCIT:C34504|UMLS:C0009763
MONDO:0001136	chylocele of tunica vaginalis	biolink:Disease	mondo	COHD:435602|UMLS:C0156315|SCTID:7864001|ICD9:608.84|DOID:10835			http://purl.obolibrary.org/obo/MONDO_0001136		UMLS:C0156315|DOID:10835|SNOMEDCT:7864001
NCBITaxon:11232	Canine morbillivirus	organism taxon	mondo	GC_ID:1		canine distemper virus CDV|Canine distemper virus|CDV	http://purl.obolibrary.org/obo/NCBITaxon_11232		
MONDO:0001135	voyeurism	biolink:Disease	mondo	MESH:D014843|ICD10:F65.3|NCIT:C94360|SCTID:63835008|DOID:10834|ICD9:302.82			http://purl.obolibrary.org/obo/MONDO_0001135	A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving observing an unsuspecting person who is naked, disrobing, or engaging in sexual activity.	SNOMEDCT:63835008|DOID:10834|NCIT:C94360|MESH:D014843
NCBITaxon:11234	Measles morbillivirus	organism taxon	mondo	GC_ID:1		Cell-associated subacute sclerosing panencephalitis|subacute sclerose panencephalitis virus|rougeole virus|subacute sclerosing panencephalitis virus, SSPEV|Subacute sclerosing panencephalitis virus|Measles virus|measles virus MV|rubeola virus	http://purl.obolibrary.org/obo/NCBITaxon_11234		
MONDO:0001134	essential hypertension	biolink:Disease	mondo	SCTID:59621000|EFO:1002032|UMLS:C0085580|MESH:C562386|ICD9:401|ICD9:401.9|DOID:10825|COHD:320128|ICD10:I10		idiopathic hypertension|primary hypertension	http://purl.obolibrary.org/obo/MONDO_0001134	Hypertension that presents without an identifiable cause.	MESH:C562386|NCIT:C3478|DOID:10825|SNOMEDCT:59621000|UMLS:C0085580
MONDO:0001133	malignant essential hypertension	biolink:Disease	mondo	ICD9:401.0|UMLS:C0024588|COHD:317898|SCTID:78975002|DOID:10823		malignant essential hypertension|accelerated essential hypertension	http://purl.obolibrary.org/obo/MONDO_0001133	Essential hypertension with rapid progression to severe high blood pressure, papilledema, and renal failure.	SNOMEDCT:78975002|DOID:10823|NCIT:C34802|UMLS:C0024588
MONDO:0003795	ovarian small cell carcinoma	biolink:Disease	mondo	DOID:6179|UMLS:C2212006|ONCOTREE:SCCO|ICD10:C56|NCIT:C27390|EFO:1000431|Orphanet:370396|GARD:0010411	ordo_disease	ovarian small cell neuroendocrine carcinoma|ovarian small cell cancer|small cell ovarian carcinoma|ovarian small cell carcinoma|ovarian small cell NEC|small cell carcinoma of ovary|small cell carcinoma of the ovary|ovary small cell carcinoma|SCCO	http://purl.obolibrary.org/obo/MONDO_0003795	A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type.	NCIT:C27390|ORPHA:370396|DOID:6179|UMLS:C2212006
MONDO:0001139	sexual masochism disorder	biolink:Disease	mondo	ICD9:302.83|ICD10:F65.51|MESH:D008398|NCIT:C94356|DOID:10849|SCTID:51239001		sexual masochism	http://purl.obolibrary.org/obo/MONDO_0001139	A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the act (real, not simulated) of being humiliated, beaten, bound, or otherwise made to suffer.	SNOMEDCT:51239001|DOID:10849|NCIT:C94356|MESH:D008398
MONDO:0003796	rectum Kaposi sarcoma	biolink:Disease	mondo	UMLS:C1335681|NCIT:C5550|DOID:6190		rectal Kaposi's sarcoma|rectum Kaposi's sarcoma (disease)|rectum Kaposi's sarcoma|Kaposi's sarcoma (disease) of rectum|rectum Kaposi sarcoma|rectal Kaposi sarcoma|Kaposi's sarcoma of the rectum|Kaposi's sarcoma of rectum	http://purl.obolibrary.org/obo/MONDO_0003796	A Kaposi sarcoma arising from the rectum.	NCIT:C5550|UMLS:C1335681|DOID:6190
MONDO:0027749	serpinopathy	biolink:Disease	mondo	Orphanet:250805	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0027749		ORPHA:250805
MONDO:0001138	angiodysplasia of intestine	biolink:Disease	mondo	ICD9:569.84|SCTID:235853006|UMLS:C0267367|ICD9:569.85|COHD:196444|DOID:10846		intestine angiodysplasia	http://purl.obolibrary.org/obo/MONDO_0001138	A angiodysplasia that involves the intestine.	SNOMEDCT:235853006|DOID:10846|UMLS:C0267367
MONDO:0003797	obsolete inflammatory MFH	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003797		
MONDO:0001137	Murray valley encephalitis	biolink:Disease	mondo	ICD10:A83.4|DOID:10842|SCTID:66454007|ICD9:062.4|UMLS:C0153066		Murray Valley encephalitis virus disease or disorder|Australian X disease|Murray Valley encephalitis virus infectious disease|Murray Valley encephalitis virus caused disease or disorder|Australian encephalitis	http://purl.obolibrary.org/obo/MONDO_0001137	An disease caused by infection with Murray Valley encephalitis virus.	UMLS:C0153066|DOID:10842|SNOMEDCT:66454007
MONDO:0003798	obsolete epithelioid sarcoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003798		
MONDO:0003791	prostatic urethral cancer	biolink:Disease	mondo	DOID:6167|UMLS:C1514523|NCIT:C39870		prostatic urethra male urethral cancer|prostatic urethral malignant neoplasm|male urethral cancer of prostatic urethra	http://purl.obolibrary.org/obo/MONDO_0003791	A male urethral cancer that involves the prostatic urethra.	NCIT:C39870|DOID:6167|UMLS:C1514523
MONDO:0003792	ovarian carcinosarcoma	biolink:Disease	mondo	GARD:0007296|ICD10:C56|ONCOTREE:OCS|NCIT:C9192|EFO:1000412|SCTID:702368000|DOID:6170|UMLS:C0392998|Orphanet:213512	ordo_disease	ovarian malignant mixed mesodermal (Mullerian) tumor|ovarian malignant mixed Müllerian tumor|carcinosarcoma of the ovary|malignant mixed mesodermal Müllerian tumor of the ovary|carcinosarcoma of ovary|ovarian malignant mesodermal (Müllerian) mixed tumor|ovarian malignant mixed epithelial mesenchymal tumor|malignant mixed mesodermal Müllerian tumor of ovary|ovarian malignant mixed Mullerian neoplasm|malignant mixed mesodermal Müllerian neoplasm of the ovary|ovarian malignant mixed mesodermal Müllerian tumor|malignant mixed mesodermal Müllerian neoplasm of ovary|ovarian carcinosarcoma/malignant mixed mesodermal tumor|ovarian MMMT|ovarian malignant mixed mesodermal Müllerian neoplasm|ovarian malignant mesodermal (mullerian) mixed tumor|ovarian carcinosarcoma|ovarian malignant mixed mesodermal (Müllerian) tumor|malignant mixed mesodermal Mullerian tumor of the ovary|ovarian malignant mesodermal (Mullerian) mixed tumor|malignant mixed mesodermal Mullerian tumor of ovary|MMMT of the ovary|malignant mixed Müllerian tumor of the ovary|ovarian malignant mixed Mullerian tumor|ovarian malignant mixed Müllerian neoplasm|malignant mixed mesodermal Mullerian neoplasm of the ovary|ovary carcinosarcoma|malignant mixed mesodermal Mullerian neoplasm of ovary|ovarian malignant mixed mesodermal Mullerian tumor|ovarian malignant mixed mesodermal Mullerian neoplasm	http://purl.obolibrary.org/obo/MONDO_0003792	A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements.	DOID:6170|UMLS:C0392998|NCIT:C9192|SNOMEDCT:702368000|ORPHA:213512
GO:0050714	positive regulation of protein secretion	biolink:OntologyClass	mondo			upregulation of protein secretion|up-regulation of protein secretion|up regulation of protein secretion|activation of protein secretion|stimulation of protein secretion	http://purl.obolibrary.org/obo/GO_0050714	Any process that activates or increases the frequency, rate or extent of the controlled release of a protein from a cell.	
MONDO:0003793	obsolete uterine carcinosarcoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003793		
MONDO:0003794	obsolete mediastinal neurilemmoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003794		
MONDO:0001132	sexual sadism disorder	biolink:Disease	mondo	ICD10:F65.52|ICD9:302.84|NCIT:C94358|DOID:10817|MESH:D012448|SCTID:59394009		sexual sadism	http://purl.obolibrary.org/obo/MONDO_0001132	A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving acts (real, not simulated) in which the psychological or physical suffering of a victim is sexually exciting to the individual.	SNOMEDCT:59394009|DOID:10817|NCIT:C94358|MESH:D012448
MONDO:0001131	obsolete duodenum adenocarcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001131		
MONDO:0001130	nasal cavity lymphoma	biolink:Disease	mondo	NCIT:C6074|UMLS:C1334921|DOID:10813		nasal cavity lymphoma|primary nasal cavity lymphoma|lymphoma of nasal cavity|lymphoma of the nasal cavity	http://purl.obolibrary.org/obo/MONDO_0001130	A primary lymphoma that affects the nasal cavity and the bulk of the tumor is in this anatomic area.	DOID:10813|UMLS:C1334921|NCIT:C6074
MONDO:0003790	prostatic urethra urothelial carcinoma	biolink:Disease	mondo	DOID:6166|NCIT:C39900|UMLS:C1514522		prostatic urethra urothelial carcinoma	http://purl.obolibrary.org/obo/MONDO_0003790	An urothelial carcinoma that arises from the urothelial lining of the prostatic urethra.	NCIT:C39900|DOID:6166|UMLS:C1514522
MONDO:0015766	cholera	biolink:Disease	mondo	ICD10:A00|MedDRA:10008631|ICD10:A00.9|ICD9:001.0|SCTID:63650001|MESH:D002771|GARD:0006043|Orphanet:173|UMLS:C0008354|COHD:198677|ICD9:001|ICD9:001.9|DOID:1498|ICD10:A00.0|ICD10:A00.1	ordo_disease|gard_rare	Vibrio cholerae infection|cholera due to Vibrio cholerae|Vibrio cholerae infectious disease|Vibrio cholerae caused disease or disorder|Vibrio cholerae|cholera - Vibrio cholerae|Vibrio cholerae disease or disorder	http://purl.obolibrary.org/obo/MONDO_0015766	Cholera is an infectious disease, caused by intestinal infection with Vibrio cholerae, characterized by massive watery diarrhea and severe dehydration that can lead to shock and death if left untreated.	DOID:1498|SNOMEDCT:63650001|MEDDRA:10008631|MESH:D002771|ORPHA:173|UMLS:C0008354
MONDO:0013103	epilepsy, idiopathic generalized, susceptibility to, 10	biolink:Disease	mondo	DOID:0111292|OMIM:613060	predisposition	epilepsy, juvenile myoclonic, susceptibility to, 7|Gefsp5, susceptibility to|generalized epilepsy with febrile seizures plus, type 5, susceptibility to|juvenile myoclonic epilepsy caused by mutation in GABRD|EIG10|Gefs+, type 5, susceptibility to|epilepsy, idiopathic generalized, susceptibility to, 10; EIG10|epilepsy, idiopathic generalized, susceptibility to, type 10|susceptibility to idiopathic generalized epilepsy 10|Gefs+5, susceptibility to|epilepsy, idiopathic generalized, susceptibility to, 10|GABRD juvenile myoclonic epilepsy	http://purl.obolibrary.org/obo/MONDO_0013103	Any juvenile myoclonic epilepsy in which the cause of the disease is a mutation in the GABRD gene.	DOID:0111292|http://identifiers.org/omim/613060
MONDO:0013104	BCC4	biolink:Disease	mondo	UMLS:C2751602|OMIM:613061	predisposition	basal cell carcinoma, susceptibility to, 4; BCC4|BCC4|basal cell carcinoma, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0013104		UMLS:C2751602|http://identifiers.org/omim/613061
MONDO:0015765	congenital myopathy with cores	biolink:Disease	mondo	ICD10:G71.2|Orphanet:172976	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015765		ORPHA:172976
MONDO:0040732	Pseudomonas aeruginosa infectious disease	biolink:Disease	mondo	SCTID:11218009|UMLS:C0276075		infection caused by Pseudomonas aeruginosa|infection due to Pseudomonas aeruginosa	http://purl.obolibrary.org/obo/MONDO_0040732		UMLS:C0276075|SNOMEDCT:11218009
MONDO:0015764	mosaic trisomy 20	biolink:Disease	mondo	ICD10:Q92.1|Orphanet:1724	ordo_malformation_syndrome	Mosaic trisomy type 20|Mosaic trisomy chromosome 20	http://purl.obolibrary.org/obo/MONDO_0015764	Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported.	ORPHA:1724
MONDO:0013101	BCC2	biolink:Disease	mondo	OMIM:613058|UMLS:C2751606	predisposition	BCC2|basal cell carcinoma, susceptibility to, 2|basal cell carcinoma, susceptibility to, 2; BCC2	http://purl.obolibrary.org/obo/MONDO_0013101		UMLS:C2751606|http://identifiers.org/omim/613058
MONDO:0015763	mosaic trisomy 2	biolink:Disease	mondo	GARD:0005331|ICD10:Q92.1|SCTID:764623009|UMLS:CN073991|Orphanet:1723	ordo_malformation_syndrome	Mosaic trisomy type 2|trisomy 2 mosaicism|Mosaic trisomy chromosome 2	http://purl.obolibrary.org/obo/MONDO_0015763	Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported.	SNOMEDCT:764623009|ORPHA:1723|UMLS:CN073991
MONDO:0013102	BCC3	biolink:Disease	mondo	OMIM:613059|UMLS:C2751605	predisposition	BCC3|basal cell carcinoma, susceptibility to, 3|basal cell carcinoma, susceptibility to, 3; BCC3	http://purl.obolibrary.org/obo/MONDO_0013102		UMLS:C2751605|http://identifiers.org/omim/613059
MONDO:0013107	atopic dermatitis 7	biolink:Disease	mondo	MESH:C567796|DOID:0110103|OMIM:613064|UMLS:C2751599		atopic dermatitis type 7|dermatitis, ATOPIC, 7; ATOD7|ATOD7|dermatitis, ATOPIC, 7	http://purl.obolibrary.org/obo/MONDO_0013107	An atopic dermatitis associated with variation in the region 11q13.5.	MESH:C567796|DOID:0110103|UMLS:C2751599|http://identifiers.org/omim/613064
MONDO:0013108	leukemia, acute lymphocytic, susceptibility to, 1	biolink:Disease	mondo	OMIM:613065|UMLS:C2751595	predisposition	leukemia, acute lymphoblastic, B-Hyperdiploid, susceptibility to|ALL|leukemia, acute lymphoblastic; ALL|All1|leukemia, T-cell acute lymphoblastic, susceptibility to|leukemia, acute lymphoblastic, susceptibility to, 1|leukemia, B-cell acute lymphoblastic, susceptibility to|leukemia, acute lymphocytic, susceptibility to, 1|leukemia, acute lymphoblastic	http://purl.obolibrary.org/obo/MONDO_0013108		UMLS:C2751595|http://identifiers.org/omim/613065
MONDO:0015769	distal trisomy 6p	biolink:Disease	mondo	ICD10:Q92.3|SCTID:722430008|Orphanet:1745|UMLS:C4302551	ordo_malformation_syndrome	telomeric duplication 6p|distal duplication 6p|distal trisomy type 6p|trisomy 6pter	http://purl.obolibrary.org/obo/MONDO_0015769	Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay.	ORPHA:1745|UMLS:C4302551|SNOMEDCT:722430008
MONDO:0015768	trisomy 5p	biolink:Disease	mondo	ICD10:Q92.2|GARD:0006093|Orphanet:1742	ordo_malformation_syndrome	5p duplication|trisomy of the short arm of chromosome 5|partial trisomy 5p|Duplication 5p|chromosome 5p duplication|trisomy type 5p|5p trisomy|Duplication of the short arm of chromosome 5	http://purl.obolibrary.org/obo/MONDO_0015768	Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit.	ORPHA:1742
MONDO:0013105	BCC5	biolink:Disease	mondo	UMLS:C2751601|OMIM:613062	predisposition	basal cell carcinoma, susceptibility to, 5; BCC5|BCC5|basal cell carcinoma, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0013105		UMLS:C2751601|http://identifiers.org/omim/613062
MONDO:0015767	trisomy 4p	biolink:Disease	mondo	ICD10:Q92.2|Orphanet:1738|GARD:0006091|MESH:C537643	ordo_malformation_syndrome	trisomy type 4p|chromosome 4p duplication|Duplication of the short arm of chromosome 4|4p trisomy|trisomy of the short arm of chromosome 4|4p duplication|Duplication 4p|partial trisomy 4p	http://purl.obolibrary.org/obo/MONDO_0015767	Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males.	ORPHA:1738|UMLS:C2931571|MESH:C537643
MONDO:0013106	BCC6	biolink:Disease	mondo	OMIM:613063|UMLS:C2751600	predisposition	basal cell carcinoma, susceptibility to, 6; BCC6|BCC6|basal cell carcinoma, susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0013106		UMLS:C2751600|http://identifiers.org/omim/613063
HGNC:7173	MMP3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7173		
HGNC:12382	TSPYL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12382		
HGNC:7176	MMP9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7176		
MONDO:0015762	progressive familial intrahepatic cholestasis	biolink:Disease	mondo	NCIT:C84453|UMLS:C0268312|OMIMPS:211600|Orphanet:172|ICD10:K76.8|DOID:0070221	ordo_disease	cholestasis, progressive familial intrahepatic|PFIC	http://purl.obolibrary.org/obo/MONDO_0015762	Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.	NCIT:C84453|DOID:0070221|UMLS:C0268312|ORPHA:172
MONDO:0013100	ATFB8	biolink:Disease	mondo	OMIM:613055|UMLS:C2751607|MESH:C567802		atrial fibrillation, familial, 8|atrial fibrillation, familial, 8; ATFB8|ATFB8	http://purl.obolibrary.org/obo/MONDO_0013100		UMLS:C2751607|http://identifiers.org/omim/613055|MESH:C567802
MONDO:0015761	trisomy 10p	biolink:Disease	mondo	ICD10:Q92.2|UMLS:C4082793|Orphanet:171929|MESH:C538290|SCTID:717157006|GARD:0005299	ordo_malformation_syndrome	Duplication 10p|10p duplication|trisomy type 10p|chromosome 10p duplication|partial trisomy 10p|10p trisomy	http://purl.obolibrary.org/obo/MONDO_0015761	Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10.	SNOMEDCT:717157006|UMLS:C4082793|ORPHA:171929|MESH:C538290|UMLS:C0795837
MONDO:0015760	T-cell non-Hodgkin lymphoma	biolink:Disease	mondo	UMLS:C0079772|ICD9:202.70|MedDRA:10042971|NCIT:C3466|SCTID:109978004|Orphanet:171918|MESH:D016399	ordo_group_of_disorders	T-cell and NK-cell non-Hodgkin's lymphoma|non-Hodgkin's T-cell lymphoma|T-cell and NK-cell non-Hodgkin lymphoma|T-cell lymphoma|T-cell NHL|T-cell non-Hodgkin's lymphoma|T cell lymphoma|T-cell non-Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0015760	A non-Hodgkin lymphoma of T-cell lineage. It includes the T lymphoblastic lymphoma and the mature T- and NK-cell lymphomas. -- 2003	SNOMEDCT:109978004|MESH:D016399|NCIT:C3466|MEDDRA:10042971|ORPHA:171918|UMLS:C0079772
CL:0002274	histamine secreting cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002274	A cell type that secretes histamine.	
HGNC:7179	ALDH6A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7179		
MONDO:0001103	giardiasis	biolink:Disease	mondo	ICD10:A07.1|UMLS:C0017536|SCTID:10679007|MESH:D005873|COHD:437202|ICD9:007.1|DOID:10718		Giardia infection|Giardiases|Lambliases|infection by Giardia lamblia|lambliasis|infections, Giardia|Giardia|beaver feaver	http://purl.obolibrary.org/obo/MONDO_0001103	An infection of the small intestine caused by the flagellated protozoan giardia lamblia. It is spread via contaminated food and water and by direct person-to-person contact.	MESH:D005873|UMLS:C0017536|SNOMEDCT:10679007|DOID:10718
MONDO:0003766	thalamic cancer	biolink:Disease	mondo	SCTID:188287005|NCIT:C4576|UMLS:C0346902|DOID:6098		malignant neoplasm of the thalamus|malignant thalamus tumor|thalamic neoplasm|malignant dorsal plus ventral thalamus neoplasm|cancer of dorsal plus ventral thalamus|malignant tumor of thalamus|malignant thalamus neoplasms|malignant thalamic tumor|malignant thalamic neoplasms|malignant neoplasm of thalamus|malignant thalamic neoplasm|malignant neoplasm of dorsal plus ventral thalamus|malignant tumor of the thalamus|malignant thalamic tumors|malignant thalamus neoplasm|tumor of thalamus|dorsal plus ventral thalamus cancer|malignant thalamus tumors	http://purl.obolibrary.org/obo/MONDO_0003766	A cancer involving a dorsal plus ventral thalamus.	SNOMEDCT:188287005|NCIT:C4576|DOID:6098|UMLS:C0346902
MONDO:0001102	obsolete chronic endophthalmitis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001102		
MONDO:0003767	mitral valve disease	biolink:Disease	mondo	ICD9:394.9|ICD10:I05|ICD9:424.0|ICD10:I05.9|UMLS:C0026265|ICD9:394.1|DOID:61|SCTID:11851006|ICD9:394|NCIT:C78446|UMLS:C2939153|ICD10:I05.1		mitral RH valve dis.|mitral valve disorder|chronic rheumatic mitral valve|disease of mitral valve|mitral valve disease or disorder|rheumatic mitral valve changes|disorder of mitral valve|rheumatic mitral valve regurgitation|disorder of mitral valve|disease or disorder of mitral valve|rheumatic disease of mitral valve|rheumatic mitral insufficiency|rheumatic mitral valve incompetence|mitral valve disease	http://purl.obolibrary.org/obo/MONDO_0003767	A disease involving the mitral valve.	UMLS:C2939153|DOID:61|NCIT:C78446|UMLS:C0026265|SNOMEDCT:11851006
MONDO:0003768	signet ring cell variant cervical mucinous adenocarcinoma	biolink:Disease	mondo	NCIT:C40205|DOID:6101|ONCOTREE:SCEMU|UMLS:C1516424		cervical mucinous adenocarcinoma, signet Ring cell variant|cervical mucinous adenocarcinoma, signet Ring cell type|signet ring mucinous carcinoma	http://purl.obolibrary.org/obo/MONDO_0003768	A rare cervical mucinous adenocarcinoma characterized by the presence of signet ring cells.	UMLS:C1516424|NCIT:C40205|DOID:6101
MONDO:0001101	fat necrosis of breast	biolink:Disease	mondo	NCIT:C3661|ICD9:611.3|SCTID:21381006|UMLS:C0156321|DOID:10691|COHD:436470|ICD10:N64.1		breast fat necrosis|fat Necrosis of the breast	http://purl.obolibrary.org/obo/MONDO_0001101	Localized necrosis of the adipose tissue in the breast. Clinically, it may present as a mass. Causes include injury, surgical procedures, and radiation treatment.	SNOMEDCT:21381006|UMLS:C0156321|DOID:10691|NCIT:C3661
MONDO:0001100	hypertrophy of breast	biolink:Disease	mondo	DOID:10688|SCTID:372281005|COHD:78474|NCIT:C3125|ICD10:N62|GARD:0009450|ICD9:611.1		large breast|macromastia|breast Hypertrophy|breasts enlarged|hypertrophy of the breast|gestational gigantomastia (subtype)|idiopathic gigantomastia (subtype)|drug-induced gigantomastia (subtype)|puberty-induced gigantomastia (subtype)|juvenile gigantomastia (subtype)|medication-induced gigantomastia (subtype)|gigantomastia|pregnancy-induced gigantomastia (subtype)	http://purl.obolibrary.org/obo/MONDO_0001100	Excessive enlargement of one or both breasts. Causes include pregnancy, obesity, and penicillamine therapy. It may result in neck, back, and shoulder pain.	SNOMEDCT:372281005|DOID:10688|NCIT:C3125
MONDO:0003769	herpetic gastritis	biolink:Disease	mondo	NCIT:C27341|DOID:6102|UMLS:C1333996		Herpesviridae caused viral gastritis|Herpesviridae viral gastritis	http://purl.obolibrary.org/obo/MONDO_0003769	Gastritis resulting from herpes virus.	UMLS:C1333996|NCIT:C27341|DOID:6102
MONDO:0003762	malignant leptomeningeal tumor	biolink:Disease	mondo	UMLS:C1334596|DOID:6086|NCIT:C8506		malignant tumor of leptomeninges|cancer of leptomeninx|leptomeningeal cancer|malignant neoplasm of the leptomeninges|malignant neoplasm of leptomeninges|malignant leptomeningeal neoplasm|malignant leptomeningeal tumor|malignant neoplasm of leptomeninx|malignant tumor of the leptomeninges|leptomeninx cancer|malignant leptomeninx neoplasm	http://purl.obolibrary.org/obo/MONDO_0003762	A primary or metastatic malignant tumor involving the leptomeninges.	NCIT:C8506|DOID:6086|UMLS:C1334596
MONDO:0001107	obsolete cerebral lipidosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001107		
MONDO:0001106	kidney failure	biolink:Disease	mondo	NCIT:C4376|UMLS:C0035078|ICD9:586|ICD9:404.13|ICD9:404.12|MESH:D051437|DOID:1074|ICD10:N19|UMLS:C1565489|SCTID:42399005		failure, renal|renal failure|renal failure syndrome|renal insufficiency	http://purl.obolibrary.org/obo/MONDO_0001106	An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood.	SNOMEDCT:42399005|UMLS:C0035078|UMLS:C1565489|DOID:1074|MESH:D051437|NCIT:C4376
MONDO:0003763	acute stress disorder	biolink:Disease	mondo	ICD10:F43.0|NCIT:C92621|EFO:0005223|ICD9:308.9|DOID:6088|ICD9:308.3|COHD:440083|Wikipedia:Acute_stress_reaction|SCTID:67195008|MESH:D000068099		acute stress reaction|traumatic stress disorder	http://purl.obolibrary.org/obo/MONDO_0003763	An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by dissociative symptoms; vivid recollections of the traumatic event; avoidance of stimuli associated with the traumatic event; and a constant state of hyperarousal for no more than one month.	NCIT:C92621|SNOMEDCT:67195008|DOID:6088|MESH:D000068099
HGNC:7180	MN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7180		
MONDO:0001105	renal hypertension	biolink:Disease	mondo	EFO:1002039|MESH:D006977|SCTID:28119000|DOID:1073|UMLS:C0020544		renovascular hypertension	http://purl.obolibrary.org/obo/MONDO_0001105	Hypertension caused by the kidney's hormonal response to narrowing or occlusion of the renal arteries.	DOID:1073|MESH:D006977|NCIT:C3121|UMLS:C0020544|SNOMEDCT:28119000
HGNC:24338	C1GALT1C1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24338		
MONDO:0003764	pediatric leptomeningeal melanoma	biolink:Disease	mondo	DOID:6089|NCIT:C5318|UMLS:C1332976		childhood leptomeningeal melanoma|childhood meningeal melanoma|pediatric meningeal melanoma	http://purl.obolibrary.org/obo/MONDO_0003764	A melanoma that arises from leptomeningeal melanocytes and occurs in childhood.	UMLS:C1332976|NCIT:C5318|DOID:6089
MONDO:0001104	toxic diffuse goiter	biolink:Disease	mondo	COHD:138717|ICD9:242.00|SCTID:267374005|DOID:10719			http://purl.obolibrary.org/obo/MONDO_0001104		DOID:10719|SNOMEDCT:267374005
MONDO:0003765	adult leptomeningeal melanoma	biolink:Disease	mondo	DOID:6090|NCIT:C5319|UMLS:C1332204		adult leptomeningeal melanoma|melanoma of adult leptomeninges|melanoma of the adult leptomeninges|adult meningeal melanoma	http://purl.obolibrary.org/obo/MONDO_0003765	A melanoma that arises from leptomeningeal melanocytes and occurs in adulthood.	NCIT:C5319|DOID:6090|UMLS:C1332204
NCBITaxon:1399768	Basidiobolomycetes	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1399768		
GO:0050727	regulation of inflammatory response	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0050727	Any process that modulates the frequency, rate or extent of the inflammatory response, the immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents.	
GO:0050728	negative regulation of inflammatory response	biolink:OntologyClass	mondo			anti-inflammatory response|down-regulation of inflammatory response|down regulation of inflammatory response|downregulation of inflammatory response|inhibition of inflammatory response	http://purl.obolibrary.org/obo/GO_0050728	Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response.	
MONDO:0003760	pediatric ovarian germ cell tumor	biolink:Disease	mondo	NCIT:C8588|UMLS:C0796664|DOID:6084		childhood ovarian germ cell tumor|pediatric ovarian germ cell tumor|ovarian germ cell tumor of childhood|childhood ovarian germ cell neoplasm|ovarian germ cell tumor|pediatric ovarian germ cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0003760	A germ cell tumor that arises from the ovary and occurs in children.	NCIT:C8588|DOID:6084|UMLS:C0796664
MONDO:0015749	6q16 deletion syndrome	biolink:Disease	mondo	ICD10:Q93.5|UMLS:CN200301|Orphanet:171829	ordo_clinical_subtype	monosomy 6q16|Prader-Willi-like syndrome due to deletion 6q16|Del(6)(q16)	http://purl.obolibrary.org/obo/MONDO_0015749	Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.	ORPHA:171829|UMLS:CN200301
MONDO:0003761	leptomeningeal melanoma	biolink:Disease	mondo	UMLS:C1334386|NCIT:C5317|DOID:6085|SCTID:277530005		melanoma (disease) of leptomeninx|leptomeninx melanoma (disease)|melanoma of the leptomeninges|malignant melanoma of meninges|leptomeningeal melanoma|leptomeninx melanoma|meningeal melanoma|melanoma of leptomeninges	http://purl.obolibrary.org/obo/MONDO_0003761	A melanoma that arises from leptomeningeal melanocytes.	SNOMEDCT:277530005|NCIT:C5317|UMLS:C1334386|DOID:6085
GO:0050729	positive regulation of inflammatory response	biolink:OntologyClass	mondo			up regulation of inflammatory response|activation of inflammatory response|stimulation of inflammatory response|upregulation of inflammatory response|up-regulation of inflammatory response	http://purl.obolibrary.org/obo/GO_0050729	Any process that activates or increases the frequency, rate or extent of the inflammatory response.	
MONDO:0015755	myopathy with hexagonally cross-linked tubular arrays	biolink:Disease	mondo	ICD10:G71.2|Orphanet:171889|SCTID:764994007	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015755	Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus.	SNOMEDCT:764994007|ORPHA:171889
CL:0002242	nucleate cell	biolink:Cell	mondo	FMA:67513			http://purl.obolibrary.org/obo/CL_0002242	A cell containing at least one nucleus.	
MONDO:0015754	obsolete cylindrical spirals myopathy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015754		
MONDO:0015753	cap myopathy	biolink:Disease	mondo	UMLS:C3710589|GARD:0011915|SCTID:703532002|MESH:C579969|ICD10:G71.2|Orphanet:171881	ordo_disease|gard_rare	Cap disease|congenital myopathy with caps	http://purl.obolibrary.org/obo/MONDO_0015753	Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.	MESH:C579969|UMLS:C3710589|SNOMEDCT:703532002|ORPHA:171881
MONDO:0037105	lung germ cell tumor	biolink:Disease	mondo	NCIT:C45636|UMLS:C1708771		lung germ cell neoplasm|lung germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0037105	A germ cell tumor that arises from the lung.	UMLS:C1708771|NCIT:C45636
MONDO:0015752	intellectual disability-cataracts-kyphosis syndrome	biolink:Disease	mondo	Orphanet:171860|UMLS:CN226733	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015752	This syndrome is characterized by severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence.	ORPHA:171860|UMLS:CN226733
MONDO:0015759	B-cell non-Hodgkin lymphoma	biolink:Disease	mondo	Orphanet:171915|NCIT:C3457	ordo_group_of_disorders	B-cell non-Hodgkin's lymphoma|B-cell non-Hodgkin lymphoma|B-cell NHL|non-Hodgkin's lymphoma B-cell|lymphomas non-Hodgkin's B-cell|non-Hodgkin's B-cell lymphoma|B-cell non Hodgkin's lymphoma|B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0015759	The most common type of non-Hodgkin lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003	NCIT:C3457|ORPHA:171915
MONDO:0015758	primary cutaneous T-cell lymphoma	biolink:Disease	mondo	GARD:0006226|Orphanet:171901|MedDRA:10011677|ICD10:C84.8	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015758		MEDDRA:10011677|UMLS:C0079773|MESH:D016410|ORPHA:171901
MONDO:0015757	lymphoid hemopathy	biolink:Disease	mondo	Orphanet:171898	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015757		ORPHA:171898
MONDO:0015756	myeloid hemopathy	biolink:Disease	mondo	Orphanet:171895	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015756		ORPHA:171895
ENVO:03000009	material accumulation process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_03000009	A process during which the mass of one or more materials, present within a given site, increases.	
MONDO:0003759	childhood ovarian yolk sac tumor	biolink:Disease	mondo	DOID:6083|UMLS:C1332993|NCIT:C6551		pediatric ovarian yolk Sac neoplasm|childhood ovarian endodermal sinus tumor|childhood ovarian yolk sac tumor|childhood ovarian endodermal sinus neoplasm|pediatric ovarian endodermal sinus neoplasm|pediatric ovarian yolk Sac tumor|pediatric ovarian endodermal sinus tumor|childhood ovarian yolk Sac neoplasm|ovary childhood endodermal sinus tumor	http://purl.obolibrary.org/obo/MONDO_0003759	A yolk sac tumor that arises from the ovary and occurs in children.	DOID:6083|UMLS:C1332993|NCIT:C6551
MONDO:0015751	craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome	biolink:Disease	mondo	UMLS:C3267187|ICD10:Q87.8|SCTID:720815000|Orphanet:171839	ordo_malformation_syndrome	Berant syndrome|familial scaphocephaly-radioulnar synostosis syndrome|Capra-DeMarco syndrome	http://purl.obolibrary.org/obo/MONDO_0015751	Capra-DeMarco syndrome is characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.	SNOMEDCT:720815000|ORPHA:171839|UMLS:C3267187
MONDO:0015750	amelogenesis imperfecta-gingival hyperplasia syndrome	biolink:Disease	mondo	Orphanet:171836|ICD10:K00.5|UMLS:CN200302	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015750	This syndrome associates gingival fibromatosis with dental abnormalities including generalized thin hypoplastic amelogenesis imperfecta, intrapulpal calcifications, and delay of tooth eruption.	http://identifiers.org/omim/614253|ORPHA:171836|UMLS:CN200302
CL:0002240	marrow fibroblast	biolink:Cell	mondo	FMA:84377			http://purl.obolibrary.org/obo/CL_0002240	A fibroblast in the bone marrow.	
MONDO:0001114	bacterial myocarditis	biolink:Disease	mondo	DOID:10779|SCTID:64043005|ICD9:422.92|UMLS:C1384588|NCIT:C128380|ICD10:I40.0|UMLS:C0155690		septic myocarditis	http://purl.obolibrary.org/obo/MONDO_0001114	Myocarditis that is caused by an infection with a bacterial agent.	NCIT:C128380|UMLS:C1384588|UMLS:C0155690|DOID:10779|SNOMEDCT:64043005
MONDO:0003777	renal pelvis urothelial papilloma	biolink:Disease	mondo	NCIT:C4528|UMLS:C1514844|DOID:6119		renal pelvis urothelial papilloma	http://purl.obolibrary.org/obo/MONDO_0003777	A benign neoplasm of the renal pelvis that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma.	NCIT:C4528|DOID:6119|UMLS:C1514844
MONDO:0003778	primary immunodeficiency disease	biolink:Disease	mondo	SCTID:58606001|DOID:612|MESH:D007153|UMLS:C0398686|ICD10:D84.9|KEGG:05340|ICD9:279.3|UMLS:C0021051|Orphanet:101997	ordo_group_of_disorders	deficiency syndromes, antibody|syndromes, immunological deficiency|deficiency syndromes, immunologic|syndrome, immunological deficiency|deficiency syndrome, antibody|deficiency syndrome, immunological|hypoimmunity|syndrome, antibody deficiency|immunological deficiency syndromes|syndromes, antibody deficiency|syndromes, immunologic deficiency|syndrome, immunologic deficiency|immune deficiency disorder|deficiency syndromes, immunological|antibody deficiency syndrome|primary immunodeficiency|immunologic deficiency syndrome|immunodeficiency syndrome|antibody deficiency syndromes|deficiency syndrome, immunologic|immunological deficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0003778	A disorder in which the immune system is unable to mount an adequate immune response.	DOID:612|MESH:D007153|UMLS:C0021051|NCIT:C39725
MONDO:0001113	Fiedler's myocarditis	biolink:Disease	mondo	DOID:10778|COHD:317307|UMLS:C0155689|ICD9:422.91|SCTID:266238009|ICD10:I40.1		isolated (Fiedler's) myocarditis|fiedler myocarditis|idiopathic myocarditis	http://purl.obolibrary.org/obo/MONDO_0001113		UMLS:C0155689|SNOMEDCT:266238009|DOID:10778
MONDO:0003779	obsolete gliomatosis cerebri	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003779		
MONDO:0001112	bubonic plague	biolink:Disease	mondo	ICD9:020.0|DOID:10773|ICD10:A20.0|UMLS:C0282312|GARD:0000183|SCTID:50797007	gard_rare	black death	http://purl.obolibrary.org/obo/MONDO_0001112	A plague in which the bacteria have infected the lymphatic system.	DOID:10773|UMLS:C0282312|SNOMEDCT:50797007
HGNC:7190	MOCS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7190		
MONDO:0001111	obsolete thrombotic thrombocytopenic purpura	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001111		
MONDO:0001118	Queensland tick typhus	biolink:Disease	mondo	UMLS:C2979888|SCTID:68981009|DOID:10784|ICD9:082.3		Rickettsia australis spotted fever|North Queensland tick typhus|Australian tick typhus	http://purl.obolibrary.org/obo/MONDO_0001118	A spotted fever that has material basis in Rickettsia australis, which is transmitted by ticks (Ixodes holocyclus). The infection has symptom fever, has symptom headache, has symptom myalgia, has symptom maculopapular rash, and has symptom lymphadenopathy.	SNOMEDCT:68981009|DOID:10784|UMLS:C2979888
MONDO:0003773	intracerebral cystic meningioma	biolink:Disease	mondo	DOID:6113|NCIT:C5269|UMLS:C1334236			http://purl.obolibrary.org/obo/MONDO_0003773	A cystic meningioma that grows within the cerebral hemispheres.	NCIT:C5269|UMLS:C1334236|DOID:6113
MONDO:0003774	cerebral convexity meningioma	biolink:Disease	mondo	NCIT:C4959|DOID:6114|UMLS:C0751303		cerebral hemispheric convexity meningioma	http://purl.obolibrary.org/obo/MONDO_0003774	A meningioma that affects the cerebral sulcus.	UMLS:C0751303|NCIT:C4959|DOID:6114
MONDO:0001117	methemoglobinemia	biolink:Disease	mondo	ICD10:D74.9|NCIT:C34817|UMLS:C0025637|COHD:432882|DOID:10783|ICD9:289.7|MESH:D008708|SCTID:38959009|ICD10:D74		methemoglobinemias	http://purl.obolibrary.org/obo/MONDO_0001117	An inherited or acquired condition characterized by abnormally increased levels of methemoglobin in the blood.	NCIT:C34817|UMLS:C0025637|MESH:D008708|SNOMEDCT:38959009|DOID:10783
MONDO:0003775	lateral ventricle meningioma	biolink:Disease	mondo	DOID:6115|NCIT:C5302|UMLS:C1334380		meningioma (disease) of telencephalic ventricle|meningioma of the lateral ventricle|telencephalic ventricle meningioma (disease)|meningioma of lateral ventricle	http://purl.obolibrary.org/obo/MONDO_0003775	A meningioma that affects the lateral ventricle of the brain.	NCIT:C5302|UMLS:C1334380|DOID:6115
MONDO:0001116	mesenteric lymphadenitis	biolink:Disease	mondo	ICD9:289.2|NCIT:C26830|ICD10:I88.0|SCTID:44897000|MESH:D008640|DOID:10782|UMLS:C0025469		mesenteric adenitis|mesentery lymphadenitis (disease)|mesenteric lymphadenitis|lymphadenitis (disease) of mesentery	http://purl.obolibrary.org/obo/MONDO_0001116	Inflammation of the mesenteric lymph nodes.	UMLS:C0025469|MESH:D008640|SNOMEDCT:44897000|NCIT:C26830|DOID:10782
NCBITaxon:11216	Human respirovirus 3	organism taxon	mondo	GC_ID:1		human parainfluenza virus type 3 PIV3|Human parainfluenza virus type 3|parainfluenza virus type 3 PIV-3|Human parainfluenza virus 3|Human parainfluenza 3 virus|Parainfluenza virus type 3|human parainfluenza virus 3 HPIV3|HPIV3|HPIV-3	http://purl.obolibrary.org/obo/NCBITaxon_11216		
MONDO:0003776	renal pelvis inverted papilloma	biolink:Disease	mondo	NCIT:C6187|DOID:6118|UMLS:C1335751		kidney pelvis inverted papilloma|inverted papilloma of renal pelvis|inverted papilloma of the renal pelvis|inverted papilloma of the kidney pelvis|inverted papilloma of kidney pelvis|renal pelvis inverted papilloma	http://purl.obolibrary.org/obo/MONDO_0003776	A neoplasm of the renal pelvis in which the epithelial cells grow downward into the underlying supportive tissue.	NCIT:C6187|UMLS:C1335751|DOID:6118
MONDO:0001115	familial polycythemia	biolink:Disease	mondo	OMIMPS:133100|ICD10:D75.0|ICD9:289.6|DOID:10780|NCIT:C26955		primary polycythemia|erythrocytosis, familial|familial polycythemia|familial erythrocytosis|familiar polycythemia|hereditary polycythemia (disease)	http://purl.obolibrary.org/obo/MONDO_0001115	Polycythemia that occurs in groups of related individuals.	NCIT:C26955|DOID:10780
HGNC:7193	MOCS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7193		
MONDO:0003770	thoracic spinal canal and spinal cord meningioma	biolink:Disease	mondo	DOID:6103|UMLS:C1336738|NCIT:C5297		meningioma of thoracic spinal canal and spinal cord|meningioma of the thoracic spinal canal and spinal cord|thoracic intraspinal meningioma	http://purl.obolibrary.org/obo/MONDO_0003770	A meningioma that arises from the meninges of the thoracic region of the spinal cord.	NCIT:C5297|UMLS:C1336738|DOID:6103
MONDO:0003771	jugular foramen meningioma	biolink:Disease	mondo	DOID:6110|UMLS:C1334298|NCIT:C5293		meningioma of the jugular Foramen|jugular foramen meningioma (disease)|meningioma of jugular Foramen|meningioma (disease) of jugular foramen	http://purl.obolibrary.org/obo/MONDO_0003771	A meningioma that affects the jugular foramen.	NCIT:C5293|UMLS:C1334298|DOID:6110
MONDO:0015739	adult-onset nemaline myopathy	biolink:Disease	mondo	GARD:0012824|Orphanet:171442|ICD10:G71.2|UMLS:C0546123	ordo_disease|gard_rare		http://purl.obolibrary.org/obo/MONDO_0015739	Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset.	ORPHA:171442|UMLS:C0546123
MONDO:0003772	cerebral meningioma	biolink:Disease	mondo	NCIT:C4807|DOID:6112|SCTID:189164002|UMLS:C0542564		cerebral hemispheric meningioma|meningioma of cerebral hemispheres|meningioma of the cerebral hemispheres|meningioma of the cerebrum|telencephalon meningioma (disease)|meningioma (disease) of telencephalon|meningioma of cerebrum	http://purl.obolibrary.org/obo/MONDO_0003772	A meningioma that affects the cerebral hemispheres.	NCIT:C4807|DOID:6112|SNOMEDCT:189164002|UMLS:C0542564
MONDO:0015738	childhood-onset nemaline myopathy	biolink:Disease	mondo	GARD:0007171|Orphanet:171439|ICD10:G71.2	gard_rare|ordo_disease	mild nemaline myopathy	http://purl.obolibrary.org/obo/MONDO_0015738	Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.	ORPHA:171439
MONDO:0001110	chronic pyelonephritis	biolink:Disease	mondo	UMLS:C0085697|ICD10:N11|DOID:1076|NCIT:C123216|ICD10:N11.9|COHD:4269363|SCTID:63302006|ICD9:590.0		pyelonephritis, chronic	http://purl.obolibrary.org/obo/MONDO_0001110	Persistent pyelonephritis.	DOID:1076|NCIT:C123216|SNOMEDCT:63302006|UMLS:C0085697
ENVO:03000010	material transport process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_03000010	A process during which material is displaced from its original location and transported either to a new location or back to the original location.	
MONDO:0015744	distal trisomy 19q	biolink:Disease	mondo	SCTID:766052008|Orphanet:1717|ICD10:Q92.3	ordo_malformation_syndrome	distal duplication 19q|telomeric duplication 19q|distal trisomy type 19q|trisomy 19qter	http://purl.obolibrary.org/obo/MONDO_0015744	Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations.	ORPHA:1717|SNOMEDCT:766052008
MONDO:0015743	idiopathic bilateral vestibulopathy	biolink:Disease	mondo	SCTID:737580004|UMLS:C4545229|ICD10:H81.8|Orphanet:171684	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015743	Idiopathic bilateral vestibulopathy is a rare otorhinolaryngologic disease characterized by dysfunction of both peripheral labyrinths or of the eighth nerves, which presents with persistent unsteadiness of gait (particularly in darkness, during eye closure or under impaired visual conditions, or when standing/walking on uneven, soft or wobbly ground) and oscillopsia associated with head movements. The disease may be progressive, presenting no episodes of vertigo, or sequential, presenting recurrent episodes of vertigo.	SNOMEDCT:737580004|ORPHA:171684|UMLS:C4545229
MONDO:0015742	periventricular leukomalacia	biolink:Disease	mondo	UMLS:C0023529|EFO:1001101|ICD9:742.8|SCTID:230769007|GARD:0010285|MESH:D007969|DOID:13088|Orphanet:171676|MedDRA:10052594|NCIT:C99013|COHD:372435|ICD10:P91.2|ICD9:779.7	ordo_disease|gard_rare	PVL	http://purl.obolibrary.org/obo/MONDO_0015742	Periventricular leukomalacia (PVL) is a brain injury disorder characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns, and premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to thearea around the ventricles of the brain, which results in the death of brain tissue. Although babies with PVL generally have no apparent signs or symptoms of the disorder at delivery, they are at risk for motor disorders, cerebral palsy, delayed mental development, coordination problems, and vision and hearing impairments.There is no cure for PVL. Treatment is generally supportive. Prognosis is dependent on the extent of damage to the ventricles.	MEDDRA:10052594|NCIT:C99013|DOID:13088|SNOMEDCT:230769007|UMLS:C0023529|MESH:D007969|ORPHA:171676
MONDO:0040753	inactive tuberculosis	biolink:Disease	mondo	SCTID:11999007|UMLS:C1609538|MESH:D055985		inactive tuberculosis|tuberculosis infection latent	http://purl.obolibrary.org/obo/MONDO_0040753		MESH:D055985|UMLS:C1609538|SNOMEDCT:11999007
HGNC:12367	TSFM	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12367		
MONDO:0015741	distal trisomy 18q	biolink:Disease	mondo	ICD10:Q92.3|Orphanet:1716	ordo_malformation_syndrome	distal duplication 18q|telomeric duplication 18q|distal trisomy type 18q|trisomy 18qter	http://purl.obolibrary.org/obo/MONDO_0015741		ORPHA:1716
MONDO:0015748	hereditary mucosal leukokeratosis	biolink:Disease	mondo	ICD9:528.6|Orphanet:171723|DOID:0050448|OMIMPS:193900|NCIT:C84760|UMLS:C1721005|GARD:0008501|SCTID:389203001|MESH:D053529|ICD10:Q38.6	ordo_disease	white sponge nevus of Cannon|hereditary mucosal leukokeratosis|white sponge nevus|White sponge nevus of Cannon	http://purl.obolibrary.org/obo/MONDO_0015748	White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa.	DOID:0050448|UMLS:C1721005|MESH:D053529|NCIT:C84760|SNOMEDCT:389203001|ORPHA:171723
CL:0002258	thyroid follicular cell	biolink:Cell	mondo	FMA:68782|CALOHA:TS-1285|BTO:0003736		principal cell of thyroid gland|follicular cell of thyroid gland|thyroid gland follicular cell	http://purl.obolibrary.org/obo/CL_0002258	A cell type that varies from squamous to columnar, depending on their activity with microvillus directed luminally. This cell produces and secretes thyroid hormones.	
ENVO:03000015	geographic basin	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_03000015	A depression which is part of a planetary crust, is of geographic scale, and is partially or completely enclosed.	
MONDO:0015747	obsolete Amish infantile epilepsy syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015747		
CL:0002257	epithelial cell of thyroid gland	biolink:Cell	mondo	FMA:256167			http://purl.obolibrary.org/obo/CL_0002257	An epithelial cell of thyroid gland.	
MONDO:0015746	male infertility due to globozoospermia	biolink:Disease	mondo	Orphanet:171709|ICD10:N46|DOID:0111156|GARD:0012502	ordo_clinical_subtype	male infertility due to globozoospermia|male infertility due to round-headed spermatozoa|round-headed sperm syndrome|globozoospermia|Male infertility due to round-headed spermatozoa	http://purl.obolibrary.org/obo/MONDO_0015746	Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic spem injection, are frequent.	DOID:0111156|ORPHA:171709
MONDO:0015745	microcephaly-polymicrogyria-corpus callosum agenesis syndrome	biolink:Disease	mondo	ICD10:Q04.3|Orphanet:171703|UMLS:CN200295	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0015745	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality.	UMLS:CN200295|ORPHA:171703
MONDO:0001109	petrositis	biolink:Disease	mondo	ICD9:383.2|ICD10:H70.2|DOID:10755|UMLS:C0155448|ICD9:383.22|MESH:D059270|ICD10:H70.22|ICD10:H70.209|ICD10:H70.21|ICD10:H70.219|ICD10:H70.20|ICD10:H70.229|ICD9:383.21|SCTID:28593007|ICD9:383.20|COHD:81029		chronic petrositis|petrous part of temporal bone inflammation|inflammation of petrous bone|inflammation of petrous part of temporal bone|acute petrositis	http://purl.obolibrary.org/obo/MONDO_0001109	Inflammation of petrous bone.	UMLS:C0155448|MESH:D059270|SNOMEDCT:28593007|DOID:10755
MONDO:0001108	broad ligament malignant neoplasm	biolink:Disease	mondo	DOID:10744|SCTID:449259009|COHD:40486213|ICD9:183.3|UMLS:C0346866|ICD10:C57.1		malignant neoplasm of broad ligament of uterus|broad ligament of uterus cancer|malignant broad ligament of uterus neoplasm|cancer of broad ligament of uterus	http://purl.obolibrary.org/obo/MONDO_0001108	A malignant neoplasm involving the broad ligament of uterus.	UMLS:C0346866|SNOMEDCT:449259009|DOID:10744
HGNC:7197	MOG	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7197		
MONDO:0015740	trisomy 18p	biolink:Disease	mondo	GARD:0005323|ICD10:Q92.2|Orphanet:1715|MESH:C538307	ordo_malformation_syndrome	trisomy of the short arm of chromosome 18|Duplication 18p|trisomy type 18p|chromosome 18p duplication|partial trisomy 18p|Duplication of the short arm of chromosome 18|18p trisomy|18p duplication	http://purl.obolibrary.org/obo/MONDO_0015740	Trisomy 18p is an extremely rare chromosomal anomaly with a poorly defined clinical phenotype. Reported manifestations include short stature, mild, moderate or severe developmental delay and intellectual disability, variable but mild facial dysmorphism, and epilepsy.	ORPHA:1715|UMLS:C2931811|MESH:C538307
HGNC:12363	TSC2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12363		
HGNC:12362	TSC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12362		
MONDO:0025136	tuberculosis, bovine	biolink:Disease	mondo	MESH:D014380|UMLS:C0041307|EFO:1001441		Tuberculoses, bovine|bovine Tuberculoses|bovine tuberculosis	http://purl.obolibrary.org/obo/MONDO_0025136	An infection of cattle caused by mycobacterium bovis. It is transmissible to man and other animals.	MESH:D014380|UMLS:C0041307
MONDO:0001169	spastic monoplegia	biolink:Disease	mondo	ICD9:343.3|DOID:10968|UMLS:C0154698		monoplegic infantile cerebral palsy|spastic monoplegic cerebral palsy|infantile monoplegic cerebral palsy	http://purl.obolibrary.org/obo/MONDO_0001169	A spastic cerebral palsy that affects only one limb.	UMLS:C0154698|DOID:10968
MONDO:0001168	spastic hemiplegia	biolink:Disease	mondo	ICD9:342.10|COHD:375528|ICD9:343.1|DOID:10967|UMLS:C0270805|NCIT:C116905|SCTID:79633009		hemiplegic infantile cerebral palsy|hemiplegic cerebral palsy|spastic hemiplegic cerebral palsy|congenital hemiplegia	http://purl.obolibrary.org/obo/MONDO_0001168	A type of spastic cerebral palsy characterized by increased muscle tone of the arm and leg on the same side of the body.	SNOMEDCT:79633009|DOID:10967|UMLS:C0270805|NCIT:C116905
NCBITaxon:11266	Filoviridae	organism taxon	mondo	GC_ID:1		Filovirus	http://purl.obolibrary.org/obo/NCBITaxon_11266		
MONDO:0025135	tuberculosis, avian	biolink:Disease	mondo	MESH:D014379|UMLS:C0041306|EFO:1001440		Tuberculoses, Avian|Avian Tuberculoses|Avian tuberculosis	http://purl.obolibrary.org/obo/MONDO_0025135	A variety of tuberculosis affecting various birds, including chickens and ducks. It is caused by mycobacterium avium and characterized by tubercles consisting principally of epithelioid cells.	MESH:D014379|UMLS:C0041306
MONDO:0001167	spastic diplegia	biolink:Disease	mondo	ICD9:343.0|NCIT:C34781|UMLS:C0270804|MESH:C537945|SCTID:281411007|DOID:10965|ICD10:G80.1|GARD:0009637	gard_rare	Little's disease|cerebral palsy spastic diplegic|diplegic infantile cerebral palsy|infantile spastic cerebral palsy|Little disease|infantile diplegic cerebral palsy|cerebral spastic infantile paralysis	http://purl.obolibrary.org/obo/MONDO_0001167	A type of cerebral palsy characterized by spasticity and hypertonia of the lower extremities bilaterally, particularly the legs, hips, and pelvis; this is the most common (70%) form of cerebral palsy.	DOID:10965|SNOMEDCT:281411007|UMLS:C0270804|MESH:C537945|NCIT:C34781
MONDO:0025138	vesicular exanthema of swine	biolink:Disease	mondo	UMLS:C0042584|MESH:D014720		swine vesicular Exanthemas|swine vesicular exanthema	http://purl.obolibrary.org/obo/MONDO_0025138	A calicivirus infection of swine characterized by hydropic degeneration of the oral and cutaneous epithelia.	MESH:D014720|UMLS:C0042584
MONDO:0001166	nephritis	biolink:Disease	mondo	NCIT:C26833|MESH:D009393|ICD9:583.89|ICD10:N08|COHD:193253|ICD10:N05|SCTID:52845002|DOID:10952|ICD9:583.9|UMLS:C0027697|ICD9:583.7		inflammation of kidney|kidney inflammation	http://purl.obolibrary.org/obo/MONDO_0001166	Inflammation of renal tissue.	NCIT:C26833|DOID:10952|UMLS:C0027697|MESH:D009393|SNOMEDCT:52845002
MONDO:0025139	white muscle disease	biolink:Disease	mondo	MESH:D014912|UMLS:C0043153		muscle disease, White|disease, White muscle|diseases, White muscle|muscle diseases, White|White muscle diseases	http://purl.obolibrary.org/obo/MONDO_0025139	A myodegeneration most frequent in calves and lambs whose dams have been fed during gestation or longer on feeds, especially legumes (fabaceae), grown in certain areas where selenium is either deficient or unavailable in the soil. It has been recorded in many countries. It has been produced experimentally in several species of animals on low-selenium intake. A similar myopathy occurs naturally in goats, deer, foals, and dogs but proof of the etiology is lacking. (Merck Veterinary Manual, 5th ed)	UMLS:C0043153|MESH:D014912
GO:0050746	regulation of lipoprotein metabolic process	biolink:OntologyClass	mondo			regulation of lipoprotein metabolism	http://purl.obolibrary.org/obo/GO_0050746	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipoproteins, any conjugated, water-soluble protein in which the nonprotein group consists of a lipid or lipids.	
HGNC:24316	TACO1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24316		
MONDO:0001161	schizoid personality disorder	biolink:Disease	mondo	ICD9:301.2|ICD10:F60.1|NCIT:C92631|DOID:10936|SCTID:52954000|ICD9:301.20|MESH:D012557|COHD:440085			http://purl.obolibrary.org/obo/MONDO_0001161	A disorder characterized by an enduring pattern of extreme social detachment and lack of involvement in interpersonal activities, coupled with emotional coldness.	DOID:10936|SNOMEDCT:52954000|MESH:D012557|NCIT:C92631
MONDO:0001160	dissociative disorder	biolink:Disease	mondo	ICD9:300.15|DOID:10935|COHD:434889|ICD9:300.9|NCIT:C92197|ICD10:F48.9|ICD10:F44.9|MESH:D004213		dissociative reaction|dissociative disease	http://purl.obolibrary.org/obo/MONDO_0001160	A category of psychiatric disorders which are characterized by a disruption in the usually integrated functions of consciousness, memory, identity, and/or perception of the environment.	DOID:10935|NCIT:C92197|MESH:D004213
MONDO:0025130	swine vesicular disease	biolink:Disease	mondo	MESH:D013555|UMLS:C0039010		vesicular diseases, swine|vesicular disease, swine|swine vesicular diseases	http://purl.obolibrary.org/obo/MONDO_0025130	An enterovirus infection of swine clinically indistinguishable from foot-and-mouth disease, vesicular stomatitis, and vesicular exanthema of swine. It is caused by a strain of human enterovirus B.	UMLS:C0039010|MESH:D013555
GO:0050747	positive regulation of lipoprotein metabolic process	biolink:OntologyClass	mondo			up-regulation of lipoprotein metabolic process|up regulation of lipoprotein metabolic process|activation of lipoprotein metabolic process|stimulation of lipoprotein metabolic process|positive regulation of lipoprotein metabolism|upregulation of lipoprotein metabolic process	http://purl.obolibrary.org/obo/GO_0050747	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving lipoproteins, any conjugated, water-soluble protein in which the nonprotein group consists of a lipid or lipids.	
GO:0050748	negative regulation of lipoprotein metabolic process	biolink:OntologyClass	mondo			down regulation of lipoprotein metabolic process|inhibition of lipoprotein metabolic process|downregulation of lipoprotein metabolic process|negative regulation of lipoprotein metabolism|down-regulation of lipoprotein metabolic process	http://purl.obolibrary.org/obo/GO_0050748	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving lipoproteins, any conjugated, water-soluble protein in which the nonprotein group consists of a lipid or lipids.	
MONDO:0001165	tongue disease	biolink:Disease	mondo	ICD9:529.8|SCTID:69244009|ICD10:K14.9|DOID:10944|MESH:D014060|ICD9:529.9|ICD10:K14|UMLS:C0040409		disease of tongue|disease or disorder of tongue|tongue disease|tongue disease or disorder|disorder of tongue	http://purl.obolibrary.org/obo/MONDO_0001165	A disease involving the tongue.	DOID:10944|MESH:D014060|SNOMEDCT:69244009|UMLS:C0040409
MONDO:0001164	antisocial personality disorder	biolink:Disease	mondo	DOID:10939|SCTID:26665006|COHD:440988|MESH:D000987|NCIT:C88413|ICD9:301.7|ICD10:F60.2		psychopathic personality|psychopathy|psychopath.personality|psychopathic personality disorder|dissocial personality disorder|asocial personality|Sociopathy|sociopathic personality	http://purl.obolibrary.org/obo/MONDO_0001164	A disorder characterized by a pervasive pattern of disregard for and violation of the rights of others that is manifested in childhood or early adolescence. (adapted from DSM-IV)	DOID:10939|NCIT:C88413|MESH:D000987|SNOMEDCT:26665006
MONDO:0001163	paranoid personality disorder	biolink:Disease	mondo	ICD9:301.0|NCIT:C92630|ICD10:F60.0|DOID:10938|SCTID:13601005|COHD:440691|MESH:D010260			http://purl.obolibrary.org/obo/MONDO_0001163	A disorder characterized by an enduring pattern of behavior based on the pervasive belief that the motives of others are malevolent and that they should not be trusted.	DOID:10938|SNOMEDCT:13601005|NCIT:C92630|MESH:D010260
MONDO:0001162	impulse control disorder	biolink:Disease	mondo	ICD10:F63.9|ICD9:312.39|DOID:10937|NCIT:C34723|ICD9:312.30|COHD:433752|SCTID:66347000		ICD|impulse-control disorder	http://purl.obolibrary.org/obo/MONDO_0001162	A category of behaviors that can be loosely defined as the failure to resist an impulsive act or behavior that may be harmful to self or others.	SNOMEDCT:66347000|DOID:10937|NCIT:C34723
HGNC:26970	COX20	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26970		
MONDO:0013158	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6	biolink:Disease	mondo	UMLS:C3150414|DOID:0111242|NCIT:C126743|OMIM:613154		muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6|Walker-Warburg syndrome or muscle-eye-brain disease, large-related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6; MDDGA6|MDDGA6	http://purl.obolibrary.org/obo/MONDO_0013158	An autosomal recessive muscular dystrophy caused by mutations in the LARGE gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.	http://identifiers.org/omim/613154|DOID:0111242|UMLS:C3150414|NCIT:C126743
MONDO:0013159	muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B1	biolink:Disease	mondo	UMLS:C3150415|OMIM:613155		muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1; MDDGB1|muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1; MDDGB1|muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1|muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1|MDDGB1|muscular dystrophy, congenital, Pomt1-related	http://purl.obolibrary.org/obo/MONDO_0013159		http://identifiers.org/omim/613155|UMLS:C3150415
HGNC:12335	TRPC3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12335		
MONDO:0013156	muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B4	biolink:Disease	mondo	OMIM:613152|UMLS:C2751052		muscular dystrophy, congenital, Fktn-related|muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4; MDDGB4|muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B, 4|muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4|MDDGB4|muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B, 4; MDDGB4	http://purl.obolibrary.org/obo/MONDO_0013156		http://identifiers.org/omim/613152|UMLS:C2751052
MONDO:0013157	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	biolink:Disease	mondo	DOID:0111241|UMLS:C3150413|OMIM:613153		muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5|Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5; MDDGA5|MDDGA5	http://purl.obolibrary.org/obo/MONDO_0013157		http://identifiers.org/omim/613153|DOID:0111241|UMLS:C3150413
HGNC:12338	TRPC6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12338		
MONDO:0013150	infantile dystonia-parkinsonism	biolink:Disease	mondo	NCIT:C129866|SCTID:722763000|UMLS:C2751067|MESH:C567730|GARD:0010484|OMIMPS:613135|Orphanet:238455	gard_rare|ordo_disease	PARKINSONISM-dystonia, infantile|Parkinsonism-dystonia infantile|infantile Parkinsonism-dystonia|PKDYS|PARKINSONISM-dystonia, infantile; PKDYS|dopamine transporter deficiency syndrome|IPD	http://purl.obolibrary.org/obo/MONDO_0013150	Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.	http://identifiers.org/omim/613135|MESH:C567730|ORPHA:238455|NCIT:C129866|UMLS:C2751067|SNOMEDCT:722763000
MONDO:0013151	CACD3	biolink:Disease	mondo	UMLS:C2751055|OMIM:613144|MESH:C567729		choroidal dystrophy, central areolar, 3; CACD3|choroidal dystrophy, central areolar, 3|CACD3|choroidal dystrophy, central areolar, with or without drusen	http://purl.obolibrary.org/obo/MONDO_0013151		http://identifiers.org/omim/613144|MESH:C567729|UMLS:C2751055
MONDO:0013154	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	biolink:Disease	mondo	OMIM:613150|NCIT:C126742|DOID:0111240|UMLS:C3150411		muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2; MDDGA2|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 2|MDDGA2|Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2	http://purl.obolibrary.org/obo/MONDO_0013154	An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation.	http://identifiers.org/omim/613150|DOID:0111240|UMLS:C3150411|NCIT:C126742
MONDO:0013155	muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3	biolink:Disease	mondo	OMIM:613151|UMLS:C3150412		muscular dystrophy, congenital, POMGNT1-related|muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 3|muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3; MDDGB3|muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3|muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 3; MDDGB3|MDDGB3	http://purl.obolibrary.org/obo/MONDO_0013155		http://identifiers.org/omim/613151|UMLS:C3150412
NCBITaxon:35237		organism taxon	mondo				http://purl.obolibrary.org/obo/NCBITaxon_35237		
MONDO:0013152	systemic lupus erythematosus, susceptibility to, 14	biolink:Disease	mondo	OMIM:613145	predisposition	systemic lupus erythematosus, susceptibility to, 14; SLEB14|SLEB14|systemic lupus erythematosus, susceptibility to, 14	http://purl.obolibrary.org/obo/MONDO_0013152		http://identifiers.org/omim/613145
MONDO:0013153	inflammatory bowel disease 28	biolink:Disease	mondo	UMLS:C2751053|OMIM:613148|DOID:0110899|MESH:C567728		IBD28|IL10RA inflammatory bowel disease|early onset autosomal recessive inflammatory bowel disease 28|inflammatory bowel disease caused by mutation in IL10RA|inflammatory bowel disease, early-onset, autosomal recessive|inflammatory bowel disease type 28|inflammatory bowel disease 28, autosomal recessive; IBD28|inflammatory bowel disease 28, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0013153	Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RA gene.	http://identifiers.org/omim/613148|MESH:C567728|UMLS:C2751053|DOID:0110899
HGNC:26988	METTL23	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/26988		
MONDO:0001179	pinguecula	biolink:Disease	mondo	COHD:376124|DOID:11029|SCTID:87614000|ICD9:372.51|ICD10:H11.15|MESH:D059407|UMLS:C0152255|EFO:1001824			http://purl.obolibrary.org/obo/MONDO_0001179	A yellowish thickened lesion on the conjunctiva near the cornea representing a benign degenerative change in the conjunctiva caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the limbus.	UMLS:C0152255|SNOMEDCT:87614000|DOID:11029|MESH:D059407
MONDO:0001178	pseudopterygium	biolink:Disease	mondo	SCTID:66139007|UMLS:C0155161|DOID:11028|ICD9:372.52			http://purl.obolibrary.org/obo/MONDO_0001178		UMLS:C0155161|SNOMEDCT:66139007|DOID:11028
HGNC:24323	CARTPT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24323		
MONDO:0001177	anorectal stricture	biolink:Disease	mondo	ICD10:K62.4|SCTID:197216007|COHD:200773|ICD9:569.2|DOID:11014		stenosis of rectum and anus	http://purl.obolibrary.org/obo/MONDO_0001177		DOID:11014|SNOMEDCT:197216007
MONDO:0025129	swine erysipelas	biolink:Disease	mondo	MESH:D013554|UMLS:C0039007		erysipelas, swine	http://purl.obolibrary.org/obo/MONDO_0025129	An acute and chronic contagious disease of young pigs caused by Erysipelothrix insidiosa.	UMLS:C0039007|MESH:D013554
MONDO:0001172	salpingo-oophoritis	biolink:Disease	mondo	ICD10:N70.93|ICD10:N70.9|UMLS:C0036133|SCTID:46536000|DOID:10972|ICD9:614.2|ICD10:N70|COHD:197602		tubo-ovarian abscess (disorder)|Tubo-ovarian inflammatory disease|salpingitis/oophoritis|tubo-ovarian abscess|tubo ovarian abscess	http://purl.obolibrary.org/obo/MONDO_0001172		UMLS:C0036133|DOID:10972|SNOMEDCT:46536000
MONDO:0001171	acute salpingo-oophoritis	biolink:Disease	mondo	COHD:196468|ICD10:N70.03|SCTID:266581008|ICD10:N70.0|DOID:10971|UMLS:C0156327|ICD9:614.0		acute salpingitis and oophoritis|salpingo-oophoritis, acute	http://purl.obolibrary.org/obo/MONDO_0001171	Acute form of salpingo-oophoritis.	SNOMEDCT:266581008|UMLS:C0156327|DOID:10971
MONDO:0001170	hemiplegia	biolink:Disease	mondo	DOID:10969|MESH:D006429|COHD:374022|ICD9:343.4|SCTID:1593000|GARD:0006583	gard_rare	infantile hemiplegia|postnatal infantile hemiplegia	http://purl.obolibrary.org/obo/MONDO_0001170	Severe or complete loss of motor function on one side of the body. This condition is usually caused by brain diseases that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, brain stem lesions; cervical spinal cord diseases; peripheral nervous system diseases; and other conditions may manifest as hemiplegia. The term hemiparesis (see paresis) refers to mild to moderate weakness involving one side of the body.	MESH:D006429|SNOMEDCT:1593000|DOID:10969
MONDO:0001176	lens disease	biolink:Disease	mondo	DOID:110|ICD9:379.39|MESH:D007905|NCIT:C26812|ICD10:H25-H28|ICD10:H27.9|SCTID:10810001|UMLS:C0023308		disease of lens of camera-type eye|lens of camera-type eye disease or disorder|disorder of lens of camera-type eye|lens of camera-type eye disease|disease or disorder of lens of camera-type eye|lens disorder	http://purl.obolibrary.org/obo/MONDO_0001176	A disease involving the lens of camera-type eye.	SNOMEDCT:10810001|DOID:110|UMLS:C0023308|MESH:D007905|NCIT:C26812
MONDO:0001175	immature cataract	biolink:Disease	mondo	COHD:40482507|UMLS:C2960113|DOID:10997|ICD10:H25.09|SCTID:446474007|UMLS:C2939157|UMLS:C0271163		incipient cataract|incipient senile cataract|water clefts	http://purl.obolibrary.org/obo/MONDO_0001175	A cataract disease in which the cataract contains some transparent protein	SNOMEDCT:446474007|DOID:10997|UMLS:C0271163|UMLS:C2939157|UMLS:C2960113
MONDO:0001174	conjunctival vascular disease	biolink:Disease	mondo	DOID:10989|ICD10:H11.41|NCIT:C35116|SCTID:74100001|ICD9:372.74		conjunctival vasculature disease or disorder|disorder of conjunctival vasculature|disease of conjunctival vasculature|disease or disorder of conjunctival vasculature|conjunctival vascular disorder|conjunctival vasculature disease|conjunctival vascular abnormality|vascular abnormalities of conjunctiva	http://purl.obolibrary.org/obo/MONDO_0001174	A disorder of the vasculature of the cornea.	DOID:10989|NCIT:C35116|SNOMEDCT:74100001
MONDO:0001173	acute salpingitis	biolink:Disease	mondo	ICD10:N70.01|UMLS:C0269038|DOID:10973|SCTID:8912009|NCIT:C40120		salpingitis, acute	http://purl.obolibrary.org/obo/MONDO_0001173	Acute inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy.	SNOMEDCT:8912009|UMLS:C0269038|DOID:10973|NCIT:C40120
MONDO:0013147	dilated cardiomyopathy 1CC	biolink:Disease	mondo	ICD10:I42.0|UMLS:C2751084|MESH:C567733|OMIM:613122|DOID:0110424		cardiomyopathy, dilated, type 1Cc|dilated cardiomyopathy type 1CC|cardiomyopathy, dilated, 1CC; CMD1CC|CMD1CC|cardiomyopathy, dilated, 1CC|NEXN familial isolated dilated cardiomyopathy|familial isolated dilated cardiomyopathy caused by mutation in NEXN	http://purl.obolibrary.org/obo/MONDO_0013147	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene.	http://identifiers.org/omim/613122|MESH:C567733|UMLS:C2751084|DOID:0110424
MONDO:0013148	Brugada syndrome 8	biolink:Disease	mondo	ICD10:I49.8|UMLS:C2751083|MESH:C567732|OMIM:613123|DOID:0110225		Brugada syndrome 8|Brugada syndrome caused by mutation in HCN4|BRGDA8|Brugada syndrome 8; BRGDA8|HCN4 Brugada syndrome|Brugada syndrome type 8	http://purl.obolibrary.org/obo/MONDO_0013148	Any Brugada syndrome in which the cause of the disease is a mutation in the HCN4 gene.	http://identifiers.org/omim/613123|MESH:C567732|DOID:0110225|UMLS:C2751083
MONDO:0013145	Brugada syndrome 6	biolink:Disease	mondo	DOID:0110223|UMLS:C2751089|MESH:C567735|OMIM:613119|ICD10:I49.8		Brugada syndrome 6; BRGDA6|BRGDA6|Brugada syndrome type 6|Brugada syndrome caused by mutation in KCNE3|Brugada syndrome 6|KCNE3 Brugada syndrome	http://purl.obolibrary.org/obo/MONDO_0013145	Any Brugada syndrome in which the cause of the disease is a mutation in the KCNE3 gene.	http://identifiers.org/omim/613119|MESH:C567735|UMLS:C2751089|DOID:0110223
CL:1000486	basal cell of urothelium	biolink:Cell	mondo	FMA:84150			http://purl.obolibrary.org/obo/CL_1000486	A basal cell that is part of the urothelium.	
MONDO:0013146	Brugada syndrome 7	biolink:Disease	mondo	ICD10:I49.8|OMIM:613120|MESH:C567734|UMLS:C2751088|DOID:0110224		Brugada syndrome caused by mutation in SCN3B|Brugada syndrome 7|atrial fibrillation, familial, 16|SCN3B Brugada syndrome|Brugada syndrome 7; BRGDA7|Brugada syndrome type 7|BRGDA7	http://purl.obolibrary.org/obo/MONDO_0013146	Any Brugada syndrome in which the cause of the disease is a mutation in the SCN3B gene.	http://identifiers.org/omim/613120|MESH:C567734|UMLS:C2751088|DOID:0110224
MONDO:0013149	hydrops fetalis, nonimmune, with gracile bones and dysmorphic features	biolink:Disease	mondo	UMLS:C2751073|MESH:C567731|OMIM:613124		hydrops fetalis, nonimmune, with gracile bones and dysmorphic features	http://purl.obolibrary.org/obo/MONDO_0013149		http://identifiers.org/omim/613124|MESH:C567731|UMLS:C2751073
MONDO:0013140	candidiasis, familial, 4	biolink:Disease	mondo	UMLS:C0341024|SCTID:235073000|OMIM:613108		candidiasis, familial, type 4|candidiasis, familial chronic mucocutaneous|candidiasis, familial, 4; CANDF4|CANDF4|familial chronic mucocutaneous candidiasis caused by mutation in CLEC7A|candidiasis, familial, 4|CLEC7A familial chronic mucocutaneous candidiasis	http://purl.obolibrary.org/obo/MONDO_0013140	Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the CLEC7A gene.	http://identifiers.org/omim/613108|SNOMEDCT:235073000|UMLS:C0341024
NCBITaxon:11270	Rhabdoviridae	organism taxon	mondo	PMID:16186241|GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_11270		
MONDO:0013143	hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	biolink:Disease	mondo	MESH:C567737|OMIM:613116|Orphanet:217467|ICD10:D68.5	ordo_disease	thrombophilia due to elevated histidine-rich glycoprotein|THPH11|thrombophilia due to histidine-rich glycoprotein deficiency|hereditary thrombophilia due to congenital HRG deficiency|thrombophilia due to histidine-rich glycoprotein deficiency; THPH11	http://purl.obolibrary.org/obo/MONDO_0013143		ORPHA:217467|http://identifiers.org/omim/613116|MESH:C567737
MONDO:0013144	antithrombin III deficiency	biolink:Disease	mondo	MESH:D020152|ICD10:D68.59|GARD:0006148|NCIT:C98815|ICD10:D68.5|SCTID:36351005|DOID:3755|Orphanet:82|UMLS:C0272375|OMIM:613118|ICD9:286.9	ordo_disease	thrombophilia due to antithrombin 3 deficiency|antithrombin III deficiency|hereditary thrombophilia due to congenital antithrombin deficiency|AT III deficiency|congenital antithrombin III deficiency|inherited antithrombin deficiency|antithrombin III deficiency; AT3D|hereditary antithrombin deficiency|hereditary thrombophilia due to congenital antithrombin 3 deficiency|antithrombin 3 deficiency|AT3D|thrombophilia due to antithrombin III deficiency|congenital AT-III deficiency	http://purl.obolibrary.org/obo/MONDO_0013144	A rare disorder characterized by the presence of low levels of antithrombin III which prohibits the formation of blood clots. It may be inherited, usually in an autosomal dominant pattern, or acquired. It may lead to venous thrombosis and pulmonary embolism.	MESH:D020152|ORPHA:82|UMLS:C0272375|http://identifiers.org/omim/613118|SNOMEDCT:36351005|DOID:3755|NCIT:C98815
MONDO:0013141	autosomal dominant macrothrombocytopenia TUBB1-related	biolink:Disease	mondo	ICD10:D69.4|MESH:C567747|OMIM:613112|DOID:0090102|UMLS:C2751259		TUBB1 autosomal dominant macrothrombocytopenia|autosomal dominant macrothrombocytopenia caused by mutation in TUBB1|macrothrombocytopenia, autosomal dominant, TUBB1-related	http://purl.obolibrary.org/obo/MONDO_0013141	Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene.	http://identifiers.org/omim/613112|MESH:C567747|DOID:0090102|UMLS:C2751259
MONDO:0013142	neuropathy, hereditary sensory and autonomic, type 2B	biolink:Disease	mondo	UMLS:C2751092|OMIM:613115|DOID:0070150		neuropathy, hereditary sensory and autonomic, type IIB; HSAN2B|hereditary sensory and autonomic neuropathy type 2B|RETREG1 hereditary sensory and autonomic neuropathy type 2|neuropathy, hereditary sensory and autonomic, type IIB|hereditary sensory and autonomic neuropathy type 2 caused by mutation in RETREG1|hereditary sensory and autonomic neuropathy type IIB|HSAN2B	http://purl.obolibrary.org/obo/MONDO_0013142	Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the RETREG1 gene.	DOID:0070150|http://identifiers.org/omim/613115|UMLS:C2751092
GO:0035176	social behavior	biolink:OntologyClass	mondo			cooperative behavior|social behaviour	http://purl.obolibrary.org/obo/GO_0035176	Behavior directed towards society, or taking place between members of the same species. Occurs predominantly, or only, in individuals that are part of a group.	
HGNC:12340	TRPS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12340		
MONDO:0001147	meningocele (disease)	biolink:Disease	mondo	NCIT:C101209|HP:0002435|Orphanet:93968|GARD:0003471|SCTID:171131006|UMLS:C0025299|MESH:D008588|NCIT:C105595|DOID:1088	gard_rare	central nervous system meningocele|spinal meningocele|meningocele	http://purl.obolibrary.org/obo/MONDO_0001147	A congenital abnormality in which the meninges protrude through a defect in the spinal column or the cranium.	NCIT:C101209|SNOMEDCT:171131006|DOID:1088|ORPHA:93968|NCIT:C105595|UMLS:C0025299|MESH:D008588
MONDO:0025114	protozoan infections, animal	biolink:Disease	mondo	UMLS:C0033741|MESH:D011529		protozoan infection, animal|infection, animal protozoan|animal protozoan infections|infections, animal protozoan|animal protozoan infection	http://purl.obolibrary.org/obo/MONDO_0025114	Infections with unicellular organisms formerly members of the subkingdom Protozoa. The infections may be experimental or veterinary.	UMLS:C0033741|MESH:D011529
MONDO:0001146	fourth cranial nerve palsy	biolink:Disease	mondo	ICD9:378.53|COHD:378439|DOID:10869|SCTID:20610004		trochlear nerve cranial nerve palsy|fourth or trochlear nerve palsy|fourth nerve palsy|cranial nerve palsy of trochlear nerve	http://purl.obolibrary.org/obo/MONDO_0001146	A cranial nerve palsy that involves the trochlear nerve.	DOID:10869|SNOMEDCT:20610004
NCBITaxon:11244	Pneumoviridae	organism taxon	mondo	GC_ID:1		Pneumovirinae	http://purl.obolibrary.org/obo/NCBITaxon_11244		
MONDO:0025113	poultry disease	biolink:Disease	mondo	UMLS:C0032851|MESH:D011201		disease, poultry|poultry disease|diseases, poultry	http://purl.obolibrary.org/obo/MONDO_0025113	Diseases of birds which are raised as a source of meat or eggs for human consumption and are usually found in barnyards, hatcheries, etc. The concept is differentiated from bird diseases which is for diseases of birds not considered poultry and usually found in zoos, parks, and the wild.	UMLS:C0032851|MESH:D011201
GO:0050764	regulation of phagocytosis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0050764	Any process that modulates the frequency, rate or extent of phagocytosis, the process in which phagocytes engulf external particulate material.	
MONDO:0001145	total third-nerve palsy	biolink:Disease	mondo	SCTID:194119004|UMLS:C0271371|ICD9:378.52|DOID:10866		third or oculomotor nerve palsy, total|total third nerve palsy|third nerve palsy with pupil involved	http://purl.obolibrary.org/obo/MONDO_0001145		SNOMEDCT:194119004|DOID:10866|UMLS:C0271371
MONDO:0001144	partial third-nerve palsy	biolink:Disease	mondo	UMLS:C0271370|ICD9:378.51|SCTID:194118007|DOID:10864		third or oculomotor nerve palsy, partial|third nerve palsy with pupil sparing|partial third nerve palsy	http://purl.obolibrary.org/obo/MONDO_0001144		DOID:10864|SNOMEDCT:194118007|UMLS:C0271370
GO:0050767	regulation of neurogenesis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0050767	Any process that modulates the frequency, rate or extent of neurogenesis, the generation of cells in the nervous system.	
GO:0050768	negative regulation of neurogenesis	biolink:OntologyClass	mondo			downregulation of neurogenesis|down regulation of neurogenesis|inhibition of neurogenesis|down-regulation of neurogenesis	http://purl.obolibrary.org/obo/GO_0050768	Any process that stops, prevents, or reduces the frequency, rate or extent of neurogenesis, the generation of cells within the nervous system.	
MONDO:0001149	microcephaly (disease)	biolink:Disease	mondo	HP:0000252|ICD10:Q02|DOID:10907|ICD9:742.1|NCIT:C85874|COHD:381114|GARD:0003603|SCTID:1829003	gard_rare	microencephaly|microcephaly|microcephalus	http://purl.obolibrary.org/obo/MONDO_0001149	A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex.	NCIT:C85874|SNOMEDCT:1829003|DOID:10907
GO:0050765	negative regulation of phagocytosis	biolink:OntologyClass	mondo			downregulation of phagocytosis|down regulation of phagocytosis|inhibition of phagocytosis|down-regulation of phagocytosis	http://purl.obolibrary.org/obo/GO_0050765	Any process that stops, prevents, or reduces the frequency, rate or extent of phagocytosis.	
MONDO:0001148	iliac vein thrombophlebitis	biolink:Disease	mondo	SCTID:42861008|DOID:10880|ICD9:451.81|UMLS:C0347887|ICD10:I80.21		phlebitis and thrombophlebitis of the iliac vein|iliac vein thrombophlebitis|thrombophlebitis of iliac vein	http://purl.obolibrary.org/obo/MONDO_0001148	A thrombophlebitis that involves the iliac vein.	DOID:10880|UMLS:C0347887|SNOMEDCT:42861008
GO:0050766	positive regulation of phagocytosis	biolink:OntologyClass	mondo			stimulation of phagocytosis|up regulation of phagocytosis|activation of phagocytosis|up-regulation of phagocytosis|upregulation of phagocytosis	http://purl.obolibrary.org/obo/GO_0050766	Any process that activates or increases the frequency, rate or extent of phagocytosis.	
GO:0050769	positive regulation of neurogenesis	biolink:OntologyClass	mondo			up regulation of neurogenesis|stimulation of neurogenesis|up-regulation of neurogenesis|activation of neurogenesis|upregulation of neurogenesis	http://purl.obolibrary.org/obo/GO_0050769	Any process that activates or increases the frequency, rate or extent of neurogenesis, the generation of cells within the nervous system.	
CL:0002209	intermediate epitheliocyte	biolink:Cell	mondo	FMA:69060		undifferentiated columnar cell of tracheobronchial tree	http://purl.obolibrary.org/obo/CL_0002209	An epithelial cell present in the trachea and bronchi; columnar in shape; generally lack cilia; immature forms of ciliated or secretory cells which have been formed from stem cells.	
HGNC:12309	ZNHIT3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12309		
MONDO:0001143	paralytic strabismus	biolink:Disease	mondo	ICD10:H49.9|HP:0031775|UMLS:C0152221|ICD9:378.50|COHD:381862|ICD9:378.5|SCTID:400942002|ICD10:H49|DOID:10863		paralytic squint|incomitant dissociation	http://purl.obolibrary.org/obo/MONDO_0001143		SNOMEDCT:400942002|UMLS:C0152221|DOID:10863
MONDO:0001142	salivary gland disease	biolink:Disease	mondo	ICD9:527.9|NCIT:C26879|ICD9:527.8|COHD:25572|SCTID:10890000|MESH:D012466|EFO:0008581|DOID:10854|UMLS:C0036093		salivary gland disorder|saliva-secreting gland disease or disorder|disorder of saliva-secreting gland|disease of saliva-secreting gland|disease or disorder of saliva-secreting gland|non-neoplastic salivary gland disease|salivary gland disease|saliva-secreting gland disease	http://purl.obolibrary.org/obo/MONDO_0001142	A disease involving the saliva-secreting gland.	NCIT:C26879|DOID:10854|UMLS:C0036093|SNOMEDCT:10890000|MESH:D012466
MONDO:0001141	middle ear cholesterol granuloma	biolink:Disease	mondo	ICD9:385.82|SCTID:28371001|UMLS:C0155492|DOID:10852		cholesterin granuloma|cholesterin granuloma of middle ear	http://purl.obolibrary.org/obo/MONDO_0001141	As accumulation of granulation tissue in the middle ear that results from the degeneration of blood and a chronic inflammatory response.	DOID:10852|NCIT:C3655|UMLS:C0155492|SNOMEDCT:28371001
MONDO:0027772	lung colloid adenocarcinoma	biolink:Disease	mondo	NCIT:C45512|DOID:0080304|DOID:0080303|UMLS:C1708776		lung mucinous cystic tumor of borderline malignancy|lung colloid adenocarcinoma|lung mucinous cystadenocarcinoma|mucinous lung adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0027772	A morphologic variant of lung adenocarcinoma characterized by the presence of mucin pools containing islands of well differentiated adenocarcinoma cells.	DOID:0080304|DOID:0080303|UMLS:C1708776|NCIT:C45512
MONDO:0001140	obsolete Edwards syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001140		
MONDO:0040700	orbital dermoid cyst	biolink:Disease	mondo	NCIT:C4548|UMLS:C0346356|SCTID:255002002		dermoid cyst of orbit|epidermal dermoid cyst|orbit dermoid cyst|dermoid cyst of the orbit	http://purl.obolibrary.org/obo/MONDO_0040700	A benign congenital tumor that affects the orbit. It is one of the most common orbital tumors. It is characterized by the presence of a cystic structure that is lined by keratinizing epithelium and contains adnexal structures. Complete surgical excision is curative.	SNOMEDCT:255002002|NCIT:C4548|UMLS:C0346356
MONDO:0015799	Smith-McCort dysplasia	biolink:Disease	mondo	MESH:C564589|Orphanet:178355|GARD:0010620|DOID:0060247|ICD10:Q77.7|OMIMPS:607326|SCTID:715862006	ordo_disease|gard_rare	Smith McCort dysplasia|Smith-McCort dwarfism	http://purl.obolibrary.org/obo/MONDO_0015799	Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC.	ORPHA:178355|SNOMEDCT:715862006|MESH:C564589|DOID:0060247
MONDO:0013136	hereditary hypotrichosis with recurrent skin vesicles	biolink:Disease	mondo	UMLS:C2751292|SCTID:724350009|OMIM:613102|MESH:C567751|Orphanet:217407	ordo_disease	hypotrichosis and recurrent skin vesicles	http://purl.obolibrary.org/obo/MONDO_0013136	Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid.	ORPHA:217407|http://identifiers.org/omim/613102|MESH:C567751|SNOMEDCT:724350009|UMLS:C2751292
HGNC:14977	SNX14	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14977		
MONDO:0013137	choroidal dystrophy, central areolar 2	biolink:Disease	mondo	MESH:C567750|OMIM:613105|UMLS:C2751290		CACD2|choroidal dystrophy, central areolar 2; CACD2|macular dystrophy, progressive|PRPH2 central areolar choroidal dystrophy|choroidal dystrophy, central areolar type 2|central areolar choroidal dystrophy caused by mutation in PRPH2|choroidal dystrophy, central areolar 2	http://purl.obolibrary.org/obo/MONDO_0013137	Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.	http://identifiers.org/omim/613105|MESH:C567750|UMLS:C2751290
FOODON:03420310	stamen	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03420310	A pollen-bearing organ in a flower, made up of a slender stalk (filament) and a pollen sac (anther) (Webster's)	
MONDO:0015798	inflammatory myofibroblastic tumor	biolink:Disease	mondo	ONCOTREE:IMT|DOID:0050905|GARD:0007146|MESH:D006104|UMLS:C0334121|MedDRA:10067917|ICDO:8825/1|Orphanet:178342|NCIT:C6481	gard_rare|ordo_disease	IMT|inflammatory pseudotumor|inflammatory myofibroblastic tumor|inflammatory fibrosarcoma|inflammatory myofibroblastic neoplasm|IMT	http://purl.obolibrary.org/obo/MONDO_0015798	A multinodular intermediate fibroblastic neoplasm that arises from soft tissue or viscera, in children and young adults. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes, and plasma cells.	UMLS:C0334121|MEDDRA:10067917|ORPHA:178342|DOID:0050905|MESH:D006104|NCIT:C6481
MONDO:0013134	glaucoma 1, open angle, O	biolink:Disease	mondo	UMLS:C2751294|MESH:C567753|OMIM:613100		NTF4 open-angle glaucoma|glaucoma 1, open angle, O; GLC1O|open-angle glaucoma caused by mutation in NTF4|GLC1O|glaucoma 1, open angle, type O|glaucoma 1, open angle, O	http://purl.obolibrary.org/obo/MONDO_0013134	Any open-angle glaucoma in which the cause of the disease is a mutation in the NTF4 gene.	http://identifiers.org/omim/613100|MESH:C567753|UMLS:C2751294
MONDO:0015797	UV-sensitive syndrome	biolink:Disease	mondo	DOID:0060240|GARD:0010947|ICD9:702.8|Orphanet:178338|MESH:C563466|OMIMPS:600630|SCTID:698253007	gard_rare|ordo_disease	UV sensitive syndrome|UVSS	http://purl.obolibrary.org/obo/MONDO_0015797	UV-sensitive syndrome is a condition that is characterized by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of skin after repeated exposure. Some people with UV-sensitive syndrome have small clusters of enlarged blood vessels just under the skin (telangiectasia), usually on the cheeks and nose. Although UV exposure can cause skin cancers, people with UV-sensitive syndrome do not have an increased risk of developing these forms of cancer compared with the general population.	ORPHA:178338|SNOMEDCT:698253007|DOID:0060240|MESH:C563466
MONDO:0015796	acute lung injury	biolink:Disease	mondo	NCIT:C155766|SCTID:315345002|MESH:D055371|EFO:0004610|MedDRA:10069351|Orphanet:178320	ordo_clinical_situation		http://purl.obolibrary.org/obo/MONDO_0015796	A condition of lung damage that is characterized by bilateral pulmonary infiltrates (pulmonary edema) rich in neutrophils, and in the absence of clinical heart failure. This can represent a spectrum of pulmonary lesions, endothelial and epithelial, due to numerous factors (physical, chemical, or biological).	NCIT:C155766|SNOMEDCT:315345002|ORPHA:178320|UMLS:C0242488|MESH:D055371|MEDDRA:10069351
MONDO:0013135	familial hemophagocytic lymphohistiocytosis 5	biolink:Disease	mondo	UMLS:C2751293|OMIM:613101|DOID:0110925|MESH:C567752		genetic hemophagocytic lymphohistiocytosis caused by mutation in STXBP2|STXBP2 genetic hemophagocytic lymphohistiocytosis|hemophagocytic lymphohistiocytosis, familial, 5; FHL5|familial hemophagocytic lymphohistiocytosis type 5|HLH5|HPLH5|FHL5|hemophagocytic lymphohistiocytosis, familial, 5|hemophagocytic lymphohistiocytosis, familial, type 5	http://purl.obolibrary.org/obo/MONDO_0013135	Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STXBP2 gene.	DOID:0110925|http://identifiers.org/omim/613101|MESH:C567752|UMLS:C2751293
CL:0002202	epithelial cell of tracheobronchial tree	biolink:Cell	mondo	FMA:66816			http://purl.obolibrary.org/obo/CL_0002202	An epithelial cell of the tracheobronchial tree.	
HGNC:14974	SNX10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14974		
MONDO:0013138	BRV2	biolink:Disease	mondo	UMLS:C2751289|MESH:C567749|OMIM:613106		BRV2|vertigo, benign recurrent, 2; BRV2|vertigo, benign recurrent, 2	http://purl.obolibrary.org/obo/MONDO_0013138		http://identifiers.org/omim/613106|MESH:C567749|UMLS:C2751289
MONDO:0013139	neutropenia, severe congenital, 2, autosomal dominant	biolink:Disease	mondo	UMLS:C2751288|MESH:C567748|OMIM:613107		neutropenia, severe congenital, 2, autosomal dominant|GFI1 autosomal dominant severe congenital neutropenia|neutropenia, severe congenital, 2, autosomal dominant; SCN2|SCN2|autosomal dominant severe congenital neutropenia caused by mutation in GFI1	http://purl.obolibrary.org/obo/MONDO_0013139	Any autosomal dominant severe congenital neutropenia in which the cause of the disease is a mutation in the GFI1 gene.	UMLS:C2751288|http://identifiers.org/omim/613107|MESH:C567748
MONDO:0015791	peripheral precocious puberty	biolink:Disease	mondo	Orphanet:178040|SCTID:736606009|ICD10:E30.1	ordo_group_of_disorders	GIPP|gonadotropin independent precocious puberty|gonadotropin-independent precocious puberty|precocious pseudopuberty	http://purl.obolibrary.org/obo/MONDO_0015791	Precocious puberty caused by sex hormones.	SNOMEDCT:736606009|ORPHA:178040
MONDO:0015790	central diabetes insipidus	biolink:Disease	mondo	MedDRA:10068587|Orphanet:178029|GARD:0006015|ICD10:E23.2|HP:0000863	ordo_disease	diabetes insipidus neurohypophyseal|diabetes insipidus cranial type|neurogenic diabetes insipidus|diabetes insipidus neurogenic|CDI	http://purl.obolibrary.org/obo/MONDO_0015790	Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI).	MESH:D020790|ORPHA:178029|UMLS:C0687720|MEDDRA:10068587
MONDO:0015795	undifferentiated embryonal sarcoma of the liver	biolink:Disease	mondo	SCTID:716648006|ONCOTREE:UESL|Orphanet:178315	ordo_disease	embryonal sarcoma of the liver|undifferentiated sarcoma of the liver|UES	http://purl.obolibrary.org/obo/MONDO_0015795	Embryonal sarcoma of the liver is a rare primary malignant hepatic neoplasm of childhood of mesenchymal origin. It can rarely occur in adults. It is characterized by abdominal mass, right upper quadrant or epigastric pain, nausea, anorexia, intermittent fever or headache.	ORPHA:178315|SNOMEDCT:716648006
MONDO:0013132	hereditary spastic paraplegia 36	biolink:Disease	mondo	Orphanet:320365|ICD10:G11.4|UMLS:C4510078|UMLS:C2936879|MESH:C567930|SCTID:723819007|OMIM:613096|DOID:0110787	ordo_disease	hereditary spastic paraplegia type 36|spastic paraplegia 36, autosomal dominant; SPG36|SPG36|autosomal dominant spastic paraplegia 36|spastic paraplegia 36, autosomal dominant|autosomal dominant spastic paraplegia type 36	http://purl.obolibrary.org/obo/MONDO_0013132	Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.	UMLS:C4510078|http://identifiers.org/omim/613096|SNOMEDCT:723819007|UMLS:C2936879|ORPHA:320365|MESH:C567930|DOID:0110787
HGNC:12310	TRIP4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12310		
MONDO:0015794	antenatal multiminicore disease with arthrogryposis multiplex congenita	biolink:Disease	mondo	ICD10:G71.2|UMLS:C1843691|Orphanet:178148|GARD:0009129	ordo_clinical_subtype	multiminicore myopathy, antenatal onset, with arthrogryposis|multicore myopathy, antenatal onset, with arthrogryposis	http://purl.obolibrary.org/obo/MONDO_0015794		ORPHA:178148|UMLS:C1843691
MONDO:0013133	melanoma, cutaneous malignant, susceptibility to, 5	biolink:Disease	mondo	OMIM:613099	predisposition	melanoma, cutaneous malignant, susceptibility to, 5; CMM5|melanoma, cutaneous malignant, susceptibility to, type 5|CMM5|melanoma, cutaneous malignant, susceptibility to, 5|susceptibility to cutaneous malignant melanoma 5	http://purl.obolibrary.org/obo/MONDO_0013133		http://identifiers.org/omim/613099
MONDO:0013130	isolated microphthalmia 4	biolink:Disease	mondo	DOID:0060836|ICD10:Q11.0|MESH:C567757|OMIM:613094|UMLS:C2751307		microphthalmia, isolated 4|isolated microphthalmia caused by mutation in GDF6|MCOP4|microphthalmia, isolated type 4|microphthalmia, isolated 4; MCOP4|isolated microphthalmia type 4|GDF6 isolated microphthalmia	http://purl.obolibrary.org/obo/MONDO_0013130	Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF6 gene.	DOID:0060836|http://identifiers.org/omim/613094|MESH:C567757|UMLS:C2751307
MONDO:0015793	moderate multiminicore disease with hand involvement	biolink:Disease	mondo	UMLS:C1861753|Orphanet:178145|ICD10:G71.2	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0015793		ORPHA:178145|UMLS:C1861753
MONDO:0013131	polycystic kidney disease 2	biolink:Disease	mondo	UMLS:C2751306|NCIT:C123166|DOID:0110859|OMIM:613095|SCTID:253879006		PKD2|Autosomal dominant polycystic kidney disease type 2|autosomal dominant polycystic kidney disease caused by mutation in PKD2|PKD2 autosomal dominant polycystic kidney disease|polycystic kidney disease, adult, type II|polycystic kidney disease type 2|polycystic kidney disease 2 with or without polycystic liver disease|polycystic kidney disease 2|polycystic kidney disease, adult, type 2|polycystic kidney disease 2 with or without polycystic liver disease; PKD2|polycystic kidney disease 2; PKD2|APKD2	http://purl.obolibrary.org/obo/MONDO_0013131	Autosomal dominant polycystic kidney disease caused by a mutation in PKD2.	SNOMEDCT:253879006|NCIT:C123166|http://identifiers.org/omim/613095|UMLS:C2751306|DOID:0110859
MONDO:0015792	transient congenital hypothyroidism	biolink:Disease	mondo	Orphanet:178045|NCIT:C113171|SCTID:119181000119104|UMLS:C3827793	ordo_group_of_disorders	hypothyroxinemia of prematurity|THOP|transient hypothyroxinemia of prematurity	http://purl.obolibrary.org/obo/MONDO_0015792	A common, self-limiting thyroid disorder seen in preterm infants that is characterized by abnormally low serum levels of thyroxine and free thyroxine with normal serum levels of thyroid stimulating hormone.	ORPHA:178045|SNOMEDCT:119181000119104|UMLS:C3827793|NCIT:C113171
MONDO:0001158	obsessive-compulsive personality disorder	biolink:Disease	mondo	NCIT:C92638|ICD10:F60.5|SCTID:1376001|COHD:443876|ICD9:301.4|DOID:10932|MESH:D003193		OCPD|obsessional personality|OCD|anankastic personality disorder	http://purl.obolibrary.org/obo/MONDO_0001158	A disorder characterized by an enduring pattern of inflexibility, extreme orderliness, and perfectionism which interfere with efficiency and which may manifest in many different contexts, including work and leisure activities, financial matters, and issues of morality or ethics.	MESH:D003193|DOID:10932|SNOMEDCT:1376001|NCIT:C92638
MONDO:0027766	generalized lipodystrophy	biolink:Disease	mondo	HP:0009064|NCIT:C131815|DOID:0080298|UMLS:C4317112		complete generalized lipodystrophy	http://purl.obolibrary.org/obo/MONDO_0027766	Almost complete absence of subcutaneous and/or visceral adipose tissue.	NCIT:C131815|UMLS:C4317112|DOID:0080298
MONDO:0025102	monkey disease	biolink:Disease	mondo	MESH:D008992		diseases, monkey|monkey disease|disease, monkey	http://purl.obolibrary.org/obo/MONDO_0025102	Diseases of Old World and New World monkeys. This term includes diseases of baboons but not of chimpanzees or gorillas (= ape diseases).	MESH:D008992
MONDO:0027767	partial lipodystrophy	biolink:Disease	mondo	UMLS:C4316789|NCIT:C131296|DOID:0080299			http://purl.obolibrary.org/obo/MONDO_0027767	Loss and redistribution of subcutaneous and/or visceral adipose tissue from specific regions of the body.	DOID:0080299|UMLS:C4316789|NCIT:C131296
MONDO:0001157	dependent personality disorder	biolink:Disease	mondo	COHD:437523|SCTID:84466009|NCIT:C92637|ICD10:F60.7|ICD9:301.6|DOID:10931|MESH:D003859			http://purl.obolibrary.org/obo/MONDO_0001157	A disorder characterized by an enduring pattern of an extreme need to be taken care of together with fear of separation that lead the individual to urgently seek out and submit to another person and allow that person to make decisions that impact all areas of the individual's life.	DOID:10931|MESH:D003859|NCIT:C92637|SNOMEDCT:84466009
MONDO:0001156	borderline personality disorder (disease)	biolink:Disease	mondo	SCTID:20010003|MESH:D001883|HP:0012076|ICD9:301.83|ICD10:F60.3|COHD:434626|NCIT:C92633|DOID:10930		BPD|borderline personality disorder	http://purl.obolibrary.org/obo/MONDO_0001156	A disorder characterized by an enduring pattern of unstable self-image and mood together with volatile interpersonal relationships, self-damaging impulsivity, recurrent suicidal threats or gestures and/or self-mutilating behavior.	DOID:10930|SNOMEDCT:20010003|MESH:D001883|NCIT:C92633
GO:0050772	positive regulation of axonogenesis	biolink:OntologyClass	mondo			upregulation of axonogenesis|up regulation of axonogenesis|stimulation of axonogenesis|up-regulation of axonogenesis|activation of axonogenesis	http://purl.obolibrary.org/obo/GO_0050772	Any process that activates or increases the frequency, rate or extent of axonogenesis.	
MONDO:0001155	gastrojejunal ulcer	biolink:Disease	mondo	UMLS:C0156042|ICD10:K28.0|DOID:10927|UMLS:C0156048|ICD9:534.0|UMLS:C0156047|SCTID:4269005|UMLS:C0156045|UMLS:C0156044|UMLS:C0156050		acute gastrojejunal ulcer with hemorrhage and perforation, with obstruction|acute gastrojejunal ulcer with hemorrhage and obstruction|acute gastrojejunal ulcer with perforation and obstruction|acute gastrojejunal ulcer without hemorrhage and without perforation|chronic gastrojejunal ulcer without hemorrhage and without perforation|chronic gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction|acute gastrojejunal ulcer with perforation, with obstruction|acute gastrojejunal ulcer with hemorrhage|chronic gastrojejunal ulcer without hemorrhage, without perforation and without obstruction|acute gastrojejunal ulcer with hemorrhage and perforation|acute gastrojejunal ulcer with perforation|acute gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction|acute gastrojejunal ulcer without hemorrhage, without perforation and without obstruction|acute gastrojejunal ulcer, with hemorrhage, with obstruction|acute gastrojejunal ulcer with hemorrhage, with perforation and with obstruction	http://purl.obolibrary.org/obo/MONDO_0001155		DOID:10927|SNOMEDCT:4269005|UMLS:C0156044|UMLS:C0156045|UMLS:C0156042|UMLS:C0156048|UMLS:C0156047|UMLS:C0156050
GO:0050778	positive regulation of immune response	biolink:OntologyClass	mondo			stimulation of immune response|upregulation of immune response|up-regulation of immune response|up regulation of immune response	http://purl.obolibrary.org/obo/GO_0050778	Any process that activates or increases the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus.	
GO:0050776	regulation of immune response	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0050776	Any process that modulates the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus.	
MONDO:0001159	multiple personality disorder	biolink:Disease	mondo	ICD9:300.14|COHD:435230|MESH:D009105|SCTID:31611000|ICD10:F44.81|DOID:10934|NCIT:C94330		dissociative identity disorder	http://purl.obolibrary.org/obo/MONDO_0001159	A disorder characterized by the presence of two or more identities with distinct patterns of perception and personality which recurrently take control of the person's behavior; this is accompanied by a retrospective gap in memory of important personal information that far exceeds ordinary forgetfulness. The changes in identity are not due to substance use or to a general medical condition.	SNOMEDCT:31611000|DOID:10934|NCIT:C94330|MESH:D009105
GO:0050777	negative regulation of immune response	biolink:OntologyClass	mondo			down-regulation of immune response|down regulation of immune response|inhibition of immune response|downregulation of immune response	http://purl.obolibrary.org/obo/GO_0050777	Any process that stops, prevents, or reduces the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus.	
MONDO:0001150	hydrocephalus	biolink:Disease	mondo	MESH:D006849|ICD10:G91|ICD10:G91.9|NCIT:C3111|SCTID:230745008|COHD:4043738|DOID:10908		hydrocephalus, X-linked|hydrocephalus, nonsyndromic, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0001150	A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain.	NCIT:C3111|DOID:10908|SNOMEDCT:230745008|MESH:D006849
MONDO:0001154	Siberian tick typhus	biolink:Disease	mondo	UMLS:C0549160|SCTID:186781003|ICD9:082.2|ICD10:A77.2|DOID:10921		North Asian tick typhus|North Asian tick fever (disorder) [ambiguous]|Rickettsia sibirica spotted fever|Manchurian typhus|North Asian tick fever	http://purl.obolibrary.org/obo/MONDO_0001154	A spotted fever that has material basis in Rickettsia sibirica, which is transmitted by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has symptom fever, has symptom eschar, has symptom regional adenopathy, and has symptom maculopapular rash.	DOID:10921|SNOMEDCT:186781003|UMLS:C0549160
MONDO:0001153	gender dysphoria	biolink:Disease	mondo	SCTID:93461009|DOID:10919|ICD9:302.50|MESH:D000068116		transsexualism	http://purl.obolibrary.org/obo/MONDO_0001153	A marked difference between the individual's expressed/experienced gender and the gender others would assign him or her, and it must continue for at least six months. (from DSM-5)	DOID:10919|MESH:D000068116|SNOMEDCT:93461009
MONDO:0001152	amnestic disorder	biolink:Disease	mondo	DOID:10914|ICD9:294.0|EFO:1001454|COHD:372608|ICD10:R41.3|SCTID:3298001		amnesic syndrome|amnesia|Korsakoff's psychosis or syndrome|amnestic syndrome	http://purl.obolibrary.org/obo/MONDO_0001152	Systematic and extensive loss of memory caused by organic or psychological factors. The loss may be temporary or permanent, and may involve old or recent memories.	DOID:10914|SNOMEDCT:3298001|NCIT:C2867
MONDO:0025100	mastitis, bovine	biolink:Disease	mondo	UMLS:C0024895|EFO:1001765|MESH:D008414		Mastitides, bovine|bovine mastitis|bovine Mastitides	http://purl.obolibrary.org/obo/MONDO_0025100	Inflammation of the udder in cows.	UMLS:C0024895|MESH:D008414
MONDO:0001151	benign essential hypertension	biolink:Disease	mondo	DOID:10913|COHD:312648|ICD9:401.1|SCTID:1201005|UMLS:C0155583		benign essential hypertension	http://purl.obolibrary.org/obo/MONDO_0001151	A condition of mild to moderate high blood pressure that has no identifiable cause.	DOID:10913|SNOMEDCT:1201005|NCIT:C3656|UMLS:C0155583
MONDO:0013125	CLAPO syndrome	biolink:Disease	mondo	ICD10:Q87.3|SCTID:717765001|OMIM:613089|UMLS:C2751313|MESH:C567763|Orphanet:168984	ordo_malformation_syndrome	capillary malformation of the LOWER LIP, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth|Clapo|Lopez-Gutierrez syndrome	http://purl.obolibrary.org/obo/MONDO_0013125	CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O).	UMLS:C2751313|SNOMEDCT:717765001|ORPHA:168984|http://identifiers.org/omim/613089|MESH:C567763
MONDO:0015788	symptomatic form of hemophilia B in female carriers	biolink:Disease	mondo	Orphanet:177929|UMLS:CN200370|ICD10:D67	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0015788	A form of hemophilia B (see this term) that manifests in some women with mutations in the F9 gene (Xq28), encoding coagulation factor IX.	UMLS:CN200370|ORPHA:177929
HGNC:14988	POFUT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/14988		
MONDO:0015787	symptomatic form of hemophilia A in female carriers	biolink:Disease	mondo	ICD10:D66|Orphanet:177926|UMLS:CN200369	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0015787	A form of hemophilia A that manifests in some women with mutations in the F8 gene (Xq28), encoding coagulation factor VIII.	UMLS:CN200369|ORPHA:177926
MONDO:0013126	obsolete Bartter syndrome, type 4B	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0013126		
MONDO:0013123	atrial heart septal defect 6	biolink:Disease	mondo	ICD10:Q21.1|DOID:0110111|OMIM:613087|UMLS:C2751315|MESH:C567764		atrial heart septal defect caused by mutation in TLL1|TLL1 atrial heart septal defect|atrial septal defect 6|atrial heart septal defect type 6|atrial septal defect 6; ASD6|atrial septal defect type 6|ASD6	http://purl.obolibrary.org/obo/MONDO_0013123	Any atrial heart septal defect in which the cause of the disease is a mutation in the TLL1 gene.	http://identifiers.org/omim/613087|MESH:C567764|DOID:0110111|UMLS:C2751315
MONDO:0015786	Prader-Willi syndrome due to imprinting mutation	biolink:Disease	mondo	Orphanet:177910|UMLS:CN200368|ICD10:Q87.1	ordo_etiological_subtype		http://purl.obolibrary.org/obo/MONDO_0015786		UMLS:CN200368|ORPHA:177910
MONDO:0013124	pelvic organ prolapse, susceptibility to, 2	biolink:Disease	mondo	OMIM:613088	predisposition	pelvic organ prolapse, susceptibility to, type 2|pelvic organ prolapse, susceptibility to, 2|Pvop2	http://purl.obolibrary.org/obo/MONDO_0013124		http://identifiers.org/omim/613088
MONDO:0015785	Prader-Willi syndrome due to translocation	biolink:Disease	mondo	ICD10:Q87.1|UMLS:CN200367|Orphanet:177907	ordo_etiological_subtype		http://purl.obolibrary.org/obo/MONDO_0015785		UMLS:CN200367|ORPHA:177907
MONDO:0013129	cone dystrophy 4	biolink:Disease	mondo	NCIT:C164226|OMIM:613093		PDE6C cone dystrophy|cone dystrophy 4; COD4|cone dystrophy type 4|COD4|cone dystrophy 4|cone dystrophy caused by mutation in PDE6C|achromatopsia 5	http://purl.obolibrary.org/obo/MONDO_0013129	Any cone dystrophy in which the cause of the disease is a mutation in the PDE6C gene.	http://identifiers.org/omim/613093|NCIT:C164226
MONDO:0013127	asphyxiating thoracic dystrophy 3	biolink:Disease	mondo	OMIM:613091|NCIT:C163755|ICD10:Q77.2|DOID:0110087		polydactyly with neonatal chondrodystrophy, type 3|short rib-polydactyly syndrome, type 2B|polydactyly with neonatal chondrodystrophy, type 1|short rib-polydactyly syndrome, type I|short-rib thoracic dysplasia 3 with or without polydactyly|ATD3|asphyxiating thoracic dystrophy type 3|SRPS2B|SRPS3|polydactyly with neonatal chondrodystrophy, type I|Saldino-Noonan syndrome|polydactyly with neonatal chondrodystrophy, type III|SRPS1|SRTD3|short-rib thoracic dysplasia 3 with or without polydactyly; SRTD3|short rib-polydactyly syndrome, type IIB|Verma-Naumoff syndrome|short rib-polydactyly syndrome, type 3|short-rib thoracic dysplasia 3 with or without polydactyly|asphyxiating thoracic dystrophy 3|short rib-polydactyly syndrome, type 1	http://purl.obolibrary.org/obo/MONDO_0013127	An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.	http://identifiers.org/omim/613091|NCIT:C163755|DOID:0110087
MONDO:0013128	familial juvenile hyperuricemic nephropathy type 2	biolink:Disease	mondo	Orphanet:217330|MESH:C567760|OMIM:613092|SCTID:721840000	ordo_disease	hyperuricemic nephropathy, familial juvenile, 2|REN-associated familial juvenile hyperuricemic nephropathy|hyperuricemic nephropathy, familial juvenile, type 2|FJHN type 2|early-onset hyperuricemia, Anemia, and progressive kidney failure|REN-associated FJHN|hyperuricemic nephropathy, familial juvenile, 2; HNFJ2|familial juvenile hyperuricemic nephropathy type 2|REN-associated kidney disease|autosomal dominant tubulointerstitial kidney disease due to mutations in REN|REN familial juvenile hyperuricemic nephropathy|HNFJ2|REN-related autosomal dominant tubulointerstitial kidney disease|familial juvenile hyperuricemic nephropathy caused by mutation in REN|ADTKD-REN	http://purl.obolibrary.org/obo/MONDO_0013128	Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS).	ORPHA:217330|SNOMEDCT:721840000|http://identifiers.org/omim/613092|MESH:C567760
MONDO:0015789	non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations	biolink:Disease	mondo	ICD10:E23.0|Orphanet:178025	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015789		ORPHA:178025
MONDO:0015780	dyskeratosis congenita	biolink:Disease	mondo	MedDRA:10062759|SCTID:74911008|Orphanet:1775|MESH:D019871|UMLS:C0265965|NCIT:C111802|OMIMPS:127550|GARD:0010905|DOID:2729|ICD10:Q82.8	clingen|gard_rare|ordo_disease	Zinsser-Engman-Cole syndrome|Hoyeraal-Hreidarsson syndrome|Zinsser-Engman-Cole syndrome|Zinsser Cole Engman syndrome|DKC|DC|DKC	http://purl.obolibrary.org/obo/MONDO_0015780	Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.	NCIT:C111802|SNOMEDCT:74911008|ORPHA:1775|UMLS:C0265965|MEDDRA:10062759|MESH:D019871|DOID:2729
GO:0035150	regulation of tube size	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0035150	Ensuring that a tube is of the correct length and diameter. Tube size must be maintained not only during tube formation, but also throughout development and in some physiological processes.	
MONDO:0015784	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	biolink:Disease	mondo	Orphanet:177904|UMLS:CN200366|ICD10:Q87.1	ordo_etiological_subtype		http://purl.obolibrary.org/obo/MONDO_0015784		UMLS:CN200366|ORPHA:177904
GO:0050770	regulation of axonogenesis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0050770	Any process that modulates the frequency, rate or extent of axonogenesis, the generation of an axon, the long process of a neuron.	
NCBITaxon:11250	Human orthopneumovirus	organism taxon	mondo	GC_ID:1		Human respiratory syncytial virus|human RSV|HRSV	http://purl.obolibrary.org/obo/NCBITaxon_11250		
MONDO:0013121	GLC3C	biolink:Disease	mondo	OMIM:613085		glaucoma 3, primary congenital, C|GLC3C|glaucoma 3, primary congenital, C; GLC3C	http://purl.obolibrary.org/obo/MONDO_0013121		http://identifiers.org/omim/613085
MONDO:0013122	glaucoma 3, primary congenital, d	biolink:Disease	mondo	OMIM:613086|UMLS:C2751316|MESH:C567765		glaucoma 3, primary congenital, D; GLC3D|glaucoma 3, primary congenital, type D|GLC3D|glaucoma 3, primary congenital, d	http://purl.obolibrary.org/obo/MONDO_0013122		http://identifiers.org/omim/613086|MESH:C567765|UMLS:C2751316
GO:0050771	negative regulation of axonogenesis	biolink:OntologyClass	mondo			down regulation of axonogenesis|inhibition of axonogenesis|down-regulation of axonogenesis|downregulation of axonogenesis	http://purl.obolibrary.org/obo/GO_0050771	Any process that stops, prevents, or reduces the frequency, rate or extent of axonogenesis.	
MONDO:0015783	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	biolink:Disease	mondo	Orphanet:177901|UMLS:CN200365|ICD10:Q87.1	ordo_etiological_subtype		http://purl.obolibrary.org/obo/MONDO_0015783		UMLS:CN200365|ORPHA:177901
MONDO:0015782	dysmorphism-cleft palate-loose skin syndrome	biolink:Disease	mondo	Orphanet:1779|UMLS:CN200364	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0015782	Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congential, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (incl. elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum, and mixed hearing loss.	UMLS:CN200364|ORPHA:1779
MONDO:0015781	facial dysmorphism-shawl scrotum-joint laxity syndrome	biolink:Disease	mondo	UMLS:C2931522|ICD10:Q87.8|GARD:0004778|Orphanet:1778|MESH:C537529|SCTID:716337006	ordo_malformation_syndrome	Seaver Cassidy syndrome|hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies|facial dysmorphism shawl scrotum joint laxity|Seaver-Cassidy syndrome	http://purl.obolibrary.org/obo/MONDO_0015781	Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterised by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit.	UMLS:C2931522|SNOMEDCT:716337006|MESH:C537529|ORPHA:1778
MONDO:0013120	46,XY sex reversal 5	biolink:Disease	mondo	DOID:0111776|OMIM:613080|MESH:C567766|UMLS:C2751317		46,XY gonadal dysgenesis, complete, Cbx2-related|46,XY sex reversal 5|46,XY SEX reversal 5; SRXY5|46,XY Sex reversal type 5|disorder of Sex development, 46,XY, Cbx2-related|SRXY5|Sex reversal, XY, Cbx2-related|46,XY Sex reversal, Cbx2-related	http://purl.obolibrary.org/obo/MONDO_0013120		http://identifiers.org/omim/613080|MESH:C567766|DOID:0111776|UMLS:C2751317
ENVO:00000100	valley	biolink:OntologyClass	mondo			glacial trough|chasm|dale|median valley|glacial gorge|shelf valley|hollow|glen|water gap|goe|gulch|coulee|trench|ravine|gorge|re-entrant|lavaka|gully|graben|moat|seachannel|strath|vale	http://purl.obolibrary.org/obo/ENVO_00000100	A depression which has been formed as a result of erosion by water or ice and which is low-lying, bordered by higher ground, and especially elongate.	
HGNC:12407	TUBA4A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12407		
HGNC:12412	TUBB2A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12412		
HGNC:12410	TUBA8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12410		
HGNC:12417	TUBG1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12417		
ENVO:00000109	woodland area	biolink:OntologyClass	mondo			monsoon forest|taiga|stand|copse|thorn forest|moor|mallee scrub|motte|grove|mott|wooded area|silva|caatinga|garique|scrub|reforested area|equatorial rain forest|mulga|sagebrush|chanaral|wood|jungle|pine grove|tropical rain forest|mulga scrub|coniferous forest|thicket|brigalow|shrub|rain forest|deciduous forest|equatorial forest	http://purl.obolibrary.org/obo/ENVO_00000109	Land having a cover of trees, shrubs, or both.	
ENVO:00000106	grassland area	biolink:OntologyClass	mondo			grazing area|herbaceous area	http://purl.obolibrary.org/obo/ENVO_00000106	An area in which grasses (Graminae) are a significant component of the vegetation.	
ECTO:9002066	refrigerant exposure	biolink:OntologyClass	mondo			exposure to refrigerant	http://purl.obolibrary.org/obo/ECTO_9002066	An exposure to refrigerant.	
GO:0001932	regulation of protein phosphorylation	biolink:OntologyClass	mondo			regulation of protein amino acid phosphorylation	http://purl.obolibrary.org/obo/GO_0001932	Any process that modulates the frequency, rate or extent of addition of phosphate groups into an amino acid in a protein.	
GO:0001933	negative regulation of protein phosphorylation	biolink:OntologyClass	mondo			downregulation of protein amino acid phosphorylation|down regulation of protein amino acid phosphorylation|inhibition of protein amino acid phosphorylation|negative regulation of protein amino acid phosphorylation|down-regulation of protein amino acid phosphorylation	http://purl.obolibrary.org/obo/GO_0001933	Any process that stops, prevents or reduces the rate of addition of phosphate groups to amino acids within a protein.	
GO:0001934	positive regulation of protein phosphorylation	biolink:OntologyClass	mondo			positive regulation of protein amino acid phosphorylation|stimulation of protein amino acid phosphorylation|up regulation of protein amino acid phosphorylation|up-regulation of protein amino acid phosphorylation|activation of protein amino acid phosphorylation|upregulation of protein amino acid phosphorylation	http://purl.obolibrary.org/obo/GO_0001934	Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein.	
ENVO:00000111	forested area	biolink:OntologyClass	mondo			forest|wood	http://purl.obolibrary.org/obo/ENVO_00000111	An area with a high density of trees. A small forest may be called a wood.	
GO:0001942	hair follicle development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0001942	The process whose specific outcome is the progression of the hair follicle over time, from its formation to the mature structure. A hair follicle is a tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open.	
CHEBI:50406	probe	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_50406	A role played by a molecular entity used to study the microscopic environment.	
OBO:exo.obo#interacts_with_an_exposure_stressor_via	interacts_with_an_exposure stressor_via	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/exo.obo#interacts_with_an_exposure_stressor_via		
UBERON:0014852	chorda tendinea of right ventricle	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0014852	Chorda tendinea which is attached to the leaflet of tricuspid valve and is continuous with the endocardium of papillary muscle of right ventricle.	
HP:0010674	Abnormality of the curvature of the vertebral column	biolink:PhenotypicFeature	mondo	UMLS:C4023747		Abnormal curve of the spine|Curvature of spine|Curved spine|Abnormal curving of the spine|Abnormal curve of the backbone	http://purl.obolibrary.org/obo/HP_0010674	The presence of an abnormal curvature of the vertebral column.	
UBERON:0014851	chorda tendinea of left ventricle	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0014851	Chorda tendinea which is attached to the leaflet of mitral valve and is continuous with the endocardium of papillary muscle of left ventricle.	
HGNC:12423	TULP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12423		
HGNC:12428	TWIST1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12428		
UBERON:0000211	ligament	biolink:AnatomicalEntity	mondo			ligament organ	http://purl.obolibrary.org/obo/UBERON_0000211	Dense regular connective tissue connecting two or more adjacent skeletal elements or supporting an organ.	
HGNC:12420	TUFM	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12420		
GO:0001944	vasculature development	biolink:OntologyClass	mondo			vascular system development	http://purl.obolibrary.org/obo/GO_0001944	The process whose specific outcome is the progression of the vasculature over time, from its formation to the mature structure. The vasculature is an interconnected tubular multi-tissue structure that contains fluid that is actively transported around the organism.	
HGNC:9751	QARS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9751		
UBERON:0002871	hypoglossal nucleus	biolink:AnatomicalEntity	mondo			nucleus of hypoglossal nerve|hypoglossal nerve nucleus|hypoglossal XII nucleus|nucleus nervi hypoglossi|nucleus hypoglossalis|nucleus nervi hypoglossi|hypoglossal nucleus|twelfth cranial nerve nucleus	http://purl.obolibrary.org/obo/UBERON_0002871	Nucleus forming a longitudinal cell column in the medulla, close beneath the floor of the 4th ventricle, containing motor neurons that innervate the muscles of the tongue (Brodal, Neurological Anatomy, 3rd ed., 1981, pg 453)	
HGNC:9752	QDPR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9752		
CHEBI:25435	mutagen	biolink:ChemicalSubstance	mondo			mutagenos|mutagene|mutagenic agent|mutagenes|mutagens|mutageno	http://purl.obolibrary.org/obo/CHEBI_25435	An agent that increases the frequency of mutations above the normal background level, usually by interacting directly with DNA and causing it damage, including base substitution.	
NCBITaxon:35493	Streptophyta	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_35493		
HP:0032016	Abnormal sputum	biolink:PhenotypicFeature	mondo			Abnormal sputum morphology	http://purl.obolibrary.org/obo/HP_0032016	Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin.	
HGNC:7105	MITF	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7105		
HGNC:9768	RAB28	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9768		
HGNC:7104	MIPEP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7104		
HGNC:9766	RAB27A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9766		
HGNC:7106	ATXN3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7106		
HP:0010668	Abnormality of the zygomatic bone	biolink:PhenotypicFeature	mondo	UMLS:C4023749		Deformity of the zygomatic bone|Malformation of the zygomatic bone|Anomaly of the zygomatic bone|Deformity of the cheekbone|Abnormality of the cheekbone	http://purl.obolibrary.org/obo/HP_0010668	An abnormality of the zygomatic bone.	
HGNC:7108	MKKS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7108		
UBERON:0000200	gyrus	biolink:AnatomicalEntity	mondo			folia|gyri|neuraxis gyrus|gyrus of cerebrum|cerebral gyrus|gyrus of neuraxis|folium of brain|gyrus of cerebral hemisphere|gyri of cerebrum|folium	http://purl.obolibrary.org/obo/UBERON_0000200	A ridge on the cerebral cortex. It is generally surrounded by one or more sulci .	
UBERON:0000203	pallium	biolink:AnatomicalEntity	mondo			dorsal telencephalic area|dorsal part of telencephalon|dorsal telencephalon|area dorsalis telencephali	http://purl.obolibrary.org/obo/UBERON_0000203	Dorsal part (roof region) of the telencephalon[GO].	
GO:0001910	regulation of leukocyte mediated cytotoxicity	biolink:OntologyClass	mondo			regulation of immune cell mediated cytotoxicity|regulation of leucocyte mediated cytotoxicity|regulation of immune cell mediated cell death|regulation of immune cell mediated cell killing	http://purl.obolibrary.org/obo/GO_0001910	Any process that modulates the frequency, rate, or extent of leukocyte mediated cytotoxicity.	
GO:0001911	negative regulation of leukocyte mediated cytotoxicity	biolink:OntologyClass	mondo			down-regulation of leukocyte mediated cytotoxicity|down regulation of leukocyte mediated cytotoxicity|downregulation of leukocyte mediated cytotoxicity|inhibition of leukocyte mediated cytotoxicity|negative regulation of immune cell mediated cytotoxicity|negative regulation of leucocyte mediated cytotoxicity	http://purl.obolibrary.org/obo/GO_0001911	Any process that stops, prevents, or reduces the rate of leukocyte mediated cytotoxicity.	
GO:0001912	positive regulation of leukocyte mediated cytotoxicity	biolink:OntologyClass	mondo			activation of leukocyte mediated cytotoxicity|stimulation of leukocyte mediated cytotoxicity|upregulation of leukocyte mediated cytotoxicity|positive regulation of immune cell mediated cytotoxicity|positive regulation of leucocyte mediated cytotoxicity|up-regulation of leukocyte mediated cytotoxicity|up regulation of leukocyte mediated cytotoxicity	http://purl.obolibrary.org/obo/GO_0001912	Any process that activates or increases the frequency, rate or extent of leukocyte mediated cytotoxicity.	
HGNC:7103	MIP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7103		
HGNC:7102	MINPP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7102		
ECTO:0000979	exposure to temperature of environmental material	biolink:OntologyClass	mondo			temperature of environmental material exposure	http://purl.obolibrary.org/obo/ECTO_0000979	A exposure event involving the interaction of an exposure receptor to temperature of environmental material.	
ECTO:9002063	food component exposure	biolink:OntologyClass	mondo			exposure to food component	http://purl.obolibrary.org/obo/ECTO_9002063	An exposure to food component.	
ECTO:9002062	food propellant exposure	biolink:OntologyClass	mondo			exposure to food propellant	http://purl.obolibrary.org/obo/ECTO_9002062	An exposure to food propellant.	
HP:0010651	Abnormal meningeal morphology	biolink:PhenotypicFeature	mondo	UMLS:C4023758		Abnormality of the meninges	http://purl.obolibrary.org/obo/HP_0010651	An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater.	
CHEBI:25442	mycotoxin	biolink:ChemicalSubstance	mondo			mycotoxins|fungal toxins	http://purl.obolibrary.org/obo/CHEBI_25442	Poisonous substance produced by fungi.	
HGNC:12406	TUB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12406		
HGNC:12405	TTR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12405		
HGNC:12404	TTPA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12404		
HGNC:12403	TTN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12403		
ECTO:0000980	exposure to temperature of air	biolink:OntologyClass	mondo			temperature of air exposure	http://purl.obolibrary.org/obo/ECTO_0000980	A exposure event involving the interaction of an exposure receptor to temperature of air.	
HGNC:7114	MKRN3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7114		
ECTO:9002059	food packaging gas exposure	biolink:OntologyClass	mondo			exposure to food packaging gas	http://purl.obolibrary.org/obo/ECTO_9002059	An exposure to food packaging gas.	
MONDO:0003623	obsolete pancreatic acinar cell adenocarcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003623		
MONDO:0003624	acinic cell breast carcinoma	biolink:Disease	mondo	DOID:5743|NCIT:C40367|UMLS:C1515868		acinic cell breast carcinoma|acinar cell breast carcinoma|breast carcinoma of acinar cell	http://purl.obolibrary.org/obo/MONDO_0003624	A breast adenocarcinoma characterized by the presence of serous (acinic cell) differentiation.	UMLS:C1515868|DOID:5743|NCIT:C40367
MONDO:0003625		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003625		
MONDO:0003626	uterine ligament serous adenocarcinoma	biolink:Disease	mondo	DOID:5747|UMLS:C1519872|NCIT:C40136		uterine ligament serous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003626	A rare serous adenocarcinoma that arises from the uterine ligament.	DOID:5747|UMLS:C1519872|NCIT:C40136
UBERON:0012240	urethral meatus	biolink:AnatomicalEntity	mondo			external urethral ostium|urethral meatus|external urinary meatus|orificium urethrae externum|external meatus of urethra|external urethral orifice|orificium urethræ externum|urinary meatus|meatus urinarius	http://purl.obolibrary.org/obo/UBERON_0012240	external opening or orifice of the urethra through which urine and seminal fluid (in males only) leave the body; in males the meatus presents as a vertical slit normally positioned at the tip of glans penis; in females the meatus is located between the clitoris and the vagina in the vulvular vestibule of the female genitalia[MP].	
MONDO:0003620	peripheral nervous system disease	biolink:Disease	mondo	SCTID:42658009|ICD9:356.9|DOID:574|ICD10:G64|NCIT:C27580|MESH:D010523|ICD9:350-359.99		peripheral nervous system disorder|peripheral nerve disease|disorder of peripheral nervous system|nerve disease, peripheral|disease or disorder of peripheral nervous system|peripheral nervous disease|peripheral nerve diseases|peripheral nervous system disease or disorder|disease of peripheral nervous system|disorder of peripheral nervous system|disorder of the peripheral nervous system|peripheral nervous system disorders|nerve diseases, peripheral|peripheral neuropathy|peripheral nervous system disease|peripheral nerve disease|PNS (peripheral nervous system) diseases|peripheral neuropathy|PNS diseases|peripheral Neuropathies|PNS disease|neuropathy, peripheral	http://purl.obolibrary.org/obo/MONDO_0003620	A disease involving the peripheral nervous system.	DOID:574|SNOMEDCT:42658009|MESH:D010523|NCIT:C27580
GO:0050900	leukocyte migration	biolink:OntologyClass	mondo			leucocyte trafficking|immune cell trafficking|leucocyte migration|immune cell migration|leukocyte trafficking	http://purl.obolibrary.org/obo/GO_0050900	The movement of a leukocyte within or between different tissues and organs of the body.	
MONDO:0003621	small intestinal vasoactive intestinal peptide producing tumor	biolink:Disease	mondo	NCIT:C27455|DOID:5740|UMLS:C1336009		small intestinal VIPoma|small intestinal VIP-producing neuroendocrine tumor|small intestinal VIP producing tumor|small intestinal VIP-producing NET|small intestinal vasoactive intestinal peptide producing tumor	http://purl.obolibrary.org/obo/MONDO_0003621	A neuroendocrine tumor that arises from the small intestine and produces vasoactive intestinal peptide.	DOID:5740|UMLS:C1336009|NCIT:C27455
MONDO:0003622	pancreatic vasoactive intestinal peptide producing tumor	biolink:Disease	mondo	NCIT:C27454|DOID:5741|UMLS:C2033037		pancreatic VIP-producing neuroendocrine tumor|pancreatic VIP producing NET|pancreatic vasoactive intestinal peptide producing tumor|pancreatic VIP producing tumor|pancreatic vasoactive intestinal peptide producing neoplasm|pancreatic VIP producing neoplasm	http://purl.obolibrary.org/obo/MONDO_0003622	A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It may or may not be associated with inappropriate secretion of VIP and an associated clinical syndrome.	DOID:5741|NCIT:C27454|UMLS:C2033037
CHEBI:25414	monoatomic monocation	biolink:ChemicalSubstance	mondo			monoatomic monocations|monovalent inorganic cations	http://purl.obolibrary.org/obo/CHEBI_25414		
MONDO:0015609	advanced sleep phase syndrome	biolink:Disease	mondo	DOID:0050628|ICD10:G47.2|Orphanet:164736|SCTID:715829003|OMIMPS:604348|GARD:0009242	ordo_disease	advanced sleep phase syndrome, familial|FASPS|familial advanced sleep phase syndrome|familial advanced sleep-phase syndrome	http://purl.obolibrary.org/obo/MONDO_0015609	Familial advanced sleep-phase syndrome (FASPS) is a very rare circadian rhythm sleep disorder characterized by very early sleep onset and offset possibly resulting in emotional and physical disruptions.	SNOMEDCT:715829003|ORPHA:164736|DOID:0050628
MONDO:0015608	acute myeloid leukemia and myelodysplastic syndromes related to radiation	biolink:Disease	mondo	UMLS:CN199981|Orphanet:164726	ordo_disease	AML and myelodysplastic syndromes related to radiation	http://purl.obolibrary.org/obo/MONDO_0015608	Acute myeloid leukemia and myelodysplastic syndromes related to radiation represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure.	ORPHA:164726|UMLS:CN199981
UBERON:0012242	internal urethral orifice	biolink:AnatomicalEntity	mondo			vesicourethral orifice|internal urethral ostium|internal urethral ostium|orificium urethrae internum|internal meatus of urethra|ostium orificium internum|internal urethral orifice of urinary bladder|internal urinary meatus|ostium urethrae internum	http://purl.obolibrary.org/obo/UBERON_0012242	the usually crescent-shaped opening of the urinary bladder into the urethra, placed at the anteroinferior angle (apex) of the urinary bladder trigone	
MONDO:0015607	partial chromosome Y deletion	biolink:Disease	mondo	ICD10:Q98.6|Orphanet:1646|HGNC:11311|MESH:C536297|SCTID:717158001|GARD:0004230	ordo_malformation_syndrome|gard_rare	Y-chromosome microdeletions|partial deletion of the long arm of the Y chromosome|partial deletion of Y|Male sterility due to chromosome Y deletion|partial deletion of Y chromosome short arm|partial deletion of chromosome Y	http://purl.obolibrary.org/obo/MONDO_0015607	Male sterility due to chromosome Y deletion is characterized by a severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility.	ORPHA:1646|MESH:C536297|UMLS:C1507149|SNOMEDCT:717158001
MONDO:0015606	Xp22.3 microdeletion syndrome	biolink:Disease	mondo	GARD:0013170|Orphanet:1643|ICD10:Q99.8|SCTID:726733007|UMLS:CN199978	gard_rare|ordo_malformation_syndrome	Del(X)(p23)	http://purl.obolibrary.org/obo/MONDO_0015606	Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated.	SNOMEDCT:726733007|ORPHA:1643|UMLS:CN199978
UBERON:0012241	male urethral meatus	biolink:AnatomicalEntity	mondo			distal urethral opening of male|male urethra ostium|external orifice of male urethra|urethral meatus of penile urethra|ostium urethrae externum (urethra masculina)|external urethral orifice (male)|urethral opening of penile urethra	http://purl.obolibrary.org/obo/UBERON_0012241	A urethral meatus that is part of a male urethra[Automatically generated definition].	
UBERON:0012248	cervical mucosa	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0012248	Lining of the head of the uterus (cervix); contains large branched glands; does not undergo sloughing.	
GO:0050908	detection of light stimulus involved in visual perception	biolink:OntologyClass	mondo			sensory transduction of light stimulus during visual perception|visual perception, detection of light stimulus|sensory transduction of light during visual perception|visual perception, sensory transduction of light stimulus|sensory detection of light stimulus during visual perception|visual perception, sensory transduction during perception of light|sensory detection of light during visual perception	http://purl.obolibrary.org/obo/GO_0050908	The series of events involved in visual perception in which a light stimulus is received and converted into a molecular signal.	
UBERON:0012247	cervical gland	biolink:AnatomicalEntity	mondo			glandulae cervicales	http://purl.obolibrary.org/obo/UBERON_0012247	mucus-secreting glands in the mucosa of the uterine cervix	
GO:0050905	neuromuscular process	biolink:OntologyClass	mondo			neuromotor process|neuromuscular physiological process	http://purl.obolibrary.org/obo/GO_0050905	Any process pertaining to the functions of the nervous and muscular systems of an organism.	
UBERON:0012246	thyroid follicular lumen	biolink:AnatomicalEntity	mondo			follicular lumen|thyroid follicle lumen|lumen of thyroid follicle|thyroid follicular space	http://purl.obolibrary.org/obo/UBERON_0012246	A follicular lumen is the closed cavity within a follicle of the thyroid gland. It is surrounded by follicular cells and filled with colloid, a concentrated solution of thyroglobulin	
GO:0050906	detection of stimulus involved in sensory perception	biolink:OntologyClass	mondo			sensory perception, stimulus detection|sensory detection of stimulus|sensory transduction|sensory perception, sensory transduction of stimulus	http://purl.obolibrary.org/obo/GO_0050906	The series of events involved in sensory perception in which a sensory stimulus is received and converted into a molecular signal.	
MONDO:0015612	Dent disease	biolink:Disease	mondo	UMLS:C0878681|DOID:0050699|MedDRA:10069199|MESH:D057973|UMLS:CN239269|ICD10:N25.8|SCTID:444645005|OMIMPS:300009|Orphanet:1652|GARD:0013105|NCIT:C123260	ordo_disease	renal Fanconi syndrome with nephrocalcinosis and renal stones|Dents disease|low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis|X-linked recessive hypercalciuric hypophosphatemic rickets|X-linked recessive hypophosphatemic rickets|Dent's disease|Dent syndrome|X-linked recessive nephrolithiasis|Dent disease 2|Dent disease 1	http://purl.obolibrary.org/obo/MONDO_0015612	Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction.	ORPHA:1652|DOID:0050699|UMLS:C1839874|SNOMEDCT:444645005|UMLS:C0878681|MEDDRA:10069199|MESH:C545036|NCIT:C123260|UMLS:CN239269|MESH:D057973
HGNC:7127	MLH1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7127		
MONDO:0015611	neutral lipid storage disease	biolink:Disease	mondo	GARD:0003262|DOID:0050729|Orphanet:165|ICD10:E75.5|UMLS:CN199983	ordo_group_of_disorders	Chanarin-Dorfman syndrome|lipidosis with triglyceride storage disease|lipidosis with triglycerid storage disease	http://purl.obolibrary.org/obo/MONDO_0015611	Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy) can be distinguished.	ORPHA:165|DOID:0050729|MESH:C536560|UMLS:CN199983|UMLS:C0268238
MONDO:0015610	acquired aplastic anemia	biolink:Disease	mondo	SCTID:55907008|ICD10:D61.2|ICD10:D61.1|Orphanet:164823|UMLS:C0271907|EFO:0006926	ordo_group_of_disorders	rare acquired aplastic anemia|acquired aplastic anemia	http://purl.obolibrary.org/obo/MONDO_0015610	An instance of aplastic anemia that is acquired during the lifetime of the individual.	UMLS:C0271907|ORPHA:164823|SNOMEDCT:55907008
UBERON:0012239	urinary bladder vasculature	biolink:AnatomicalEntity	mondo			blood vessel of bladder|bladder vasculature|set of urinary bladder blood vessels|blood vessels of bladder	http://purl.obolibrary.org/obo/UBERON_0012239	network of tubes that carries blood through the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys[MP]	
HGNC:9788	RAB7A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9788		
GO:2001198	regulation of dendritic cell differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2001198	Any process that modulates the frequency, rate or extent of dendritic cell differentiation.	
GO:2001199	negative regulation of dendritic cell differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2001199	Any process that stops, prevents or reduces the frequency, rate or extent of dendritic cell differentiation.	
HGNC:7128	MLH3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7128		
MONDO:0015616	obsolete rare genetic intestinal disease	biolink:Disease	mondo	UMLS:CN199992|Orphanet:165655	ordo_group_of_disorders|obsoletion_candidate	genetic intestinal disease	http://purl.obolibrary.org/obo/MONDO_0015616		ORPHA:165655|UMLS:CN199992
MONDO:0015615	obsolete rare genetic gastroenterological disease	biolink:Disease	mondo	Orphanet:165652|UMLS:CN199991	ordo_group_of_disorders|obsoletion_candidate	rare genetic gastrointestinal system disease	http://purl.obolibrary.org/obo/MONDO_0015615		ORPHA:165652|UMLS:CN199991
NCBITaxon:577468	unclassified Micrococcales	organism taxon	mondo	GC_ID:11		unclassified Micrococcineae	http://purl.obolibrary.org/obo/NCBITaxon_577468		
MONDO:0015614	dermatitis herpetiformis	biolink:Disease	mondo	Orphanet:1656|COHD:140487|EFO:1000684|ICD10:L13.0|Wikipedia:Dermatitis_herpetiformis|MESH:D003874|UMLS:C0011608|NCIT:C26742|MedDRA:10012468|SCTID:111196000|ICD9:694.0|DOID:8505	ordo_disease	Durhing-Brocq disease|dermatosis herpetiformis|dermatitis herpetiformis|Duhring's disease	http://purl.obolibrary.org/obo/MONDO_0015614	Dermatitis herpetiformis (DH) is a chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. DH may also appear as a consequence of gluten intolerance.	SNOMEDCT:111196000|ORPHA:1656|UMLS:C0011608|NCIT:C26742|DOID:8505|MEDDRA:10012468|MESH:D003874
MONDO:0015613	dentin dysplasia	biolink:Disease	mondo	MESH:D003805|ICD10:K00.5|SCTID:109492001|Orphanet:1653|DOID:701|ICD9:520.5	ordo_disease	DD|dentinal dysplasia	http://purl.obolibrary.org/obo/MONDO_0015613	Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II.	SNOMEDCT:109492001|ORPHA:1653|DOID:701|UMLS:C0011430|MESH:D003805
ECTO:9002021	astringent exposure	biolink:OntologyClass	mondo			exposure to astringent	http://purl.obolibrary.org/obo/ECTO_9002021	An exposure to astringent.	
HGNC:7121	MKS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7121		
MONDO:0003616	salpingitis isthmica nodosa	biolink:Disease	mondo	SCTID:36742000|NCIT:C40119|DOID:5730|UMLS:C0269043			http://purl.obolibrary.org/obo/MONDO_0003616	Formation of nodules in the isthmus of the fallopian tube due to fallopian tube diverticulosis. It may cause infertility or ectopic pregnancy.	NCIT:C40119|SNOMEDCT:36742000|DOID:5730|UMLS:C0269043
MONDO:0003617	chronic salpingitis	biolink:Disease	mondo	ICD10:N70.11|NCIT:C40118|DOID:5731|SCTID:55551005|UMLS:C0269041		salpingitis, chronic	http://purl.obolibrary.org/obo/MONDO_0003617	Chronic inflammation of the fallopian tube. It usually follows an acute inflammatory attack.	NCIT:C40118|DOID:5731|SNOMEDCT:55551005|UMLS:C0269041
ECTO:9002028	greenhouse gas exposure	biolink:OntologyClass	mondo			exposure to greenhouse gas	http://purl.obolibrary.org/obo/ECTO_9002028	An exposure to greenhouse gas.	
MONDO:0003618	pyosalpinx	biolink:Disease	mondo	SCTID:397810006|ICD10:N70|UMLS:C0034220|NCIT:C34968|DOID:5732		pyosalpingitis	http://purl.obolibrary.org/obo/MONDO_0003618	The presence of pus in the fallopian tube. It is usually caused by acute salpingitis. The fallopian tube is distended and filled with pus. Histologic examination reveals edema and acute and chronic inflammation. Symptoms include fever, vaginal discharge, and pelvic pain.	SNOMEDCT:397810006|DOID:5732|NCIT:C34968|UMLS:C0034220
MONDO:0003619	salpingitis	biolink:Disease	mondo	NCIT:C26880|DOID:5733|SCTID:88157006|ICD10:N70.91|UMLS:C0036130|MESH:D012488		fallopian tube inflammation|inflammation of fallopian tube	http://purl.obolibrary.org/obo/MONDO_0003619	Acute or chronic inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy.	NCIT:C26880|SNOMEDCT:88157006|DOID:5733|MESH:D012488|UMLS:C0036130
MONDO:0003634	proteinuria	biolink:Disease	mondo	MESH:D011507|COHD:75650|DOID:576|ICD9:791.0|ICD10:R80.9|ICD10:R80			http://purl.obolibrary.org/obo/MONDO_0003634	The presence of abnormal amounts of protein in the urine.	DOID:576|MESH:D011507|NCIT:C38012
MONDO:0003635	sebaceous breast carcinoma	biolink:Disease	mondo	DOID:5760|UMLS:C1519207|NCIT:C40369		sebaceous adenocarcinoma of breast|breast sebaceous adenocarcinoma|sebaceous breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0003635	A very rare breast adenocarcinoma with sebaceous differentiation.	DOID:5760|UMLS:C1519207|NCIT:C40369
MONDO:0003636	vulvar sebaceous carcinoma	biolink:Disease	mondo	DOID:5761|UMLS:C1520094|NCIT:C40309		mammalian vulva sebaceous adenocarcinoma|sebaceous adenocarcinoma of mammalian vulva	http://purl.obolibrary.org/obo/MONDO_0003636	A carcinoma that arises from the vulva. It is characterized by the presence of malignant basaloid glandular epithelial cells that resemble sebaceous epithelium and are arranged in cords and nests.	DOID:5761|UMLS:C1520094|NCIT:C40309
UBERON:0014891	brainstem white matter	biolink:AnatomicalEntity	mondo			brainstem tracts|brainstem tracts and commissures|brainstem tract/commissure|brain stem white matter	http://purl.obolibrary.org/obo/UBERON_0014891	White matter that is part of a brainstem [Automatically generated definition].	
MONDO:0003637	clear cell-sugar-tumor of the lung	biolink:Disease	mondo	UMLS:C1333065|NCIT:C38152|DOID:5763		clear cell-Sugar-tumor of lung|clear cell-Sugar-tumor of the lung|lung clear cell-sugar-tumor|Sugar tumor|CCSTL|lung clear cell tumor	http://purl.obolibrary.org/obo/MONDO_0003637	A rare benign lung tumor with perivascular epithelioid cell differentiation. It is composed of round or oval cells with abundant clear or eosinophilic cytoplasm and distinct cell borders. The vast majority of patients are asymptomatic and the tumors are discovered incidentally. Excision is curative.	DOID:5763|NCIT:C38152|UMLS:C1333065
MONDO:0003630	pancreatic serous cystadenocarcinoma	biolink:Disease	mondo	UMLS:C1335315|DOID:5751|ICD10:C25.8|ICD10:C25.7|NCIT:C5724|ICD10:C25.2|ICD10:C25.1|ICD10:C25.0|Orphanet:424073	ordo_disease	pancreas serous adenocarcinoma|serous cystadenocarcinoma of the pancreas|pancreatic serous cystadenocarcinoma|serous cystadenocarcinoma of pancreas	http://purl.obolibrary.org/obo/MONDO_0003630	A metastasizing, slow-growing malignant epithelial neoplasm that arises from the exocrine pancreas. It is characterized by the presence of cysts and is composed of glycogen-rich malignant epithelial cells which produce a watery fluid. Signs and symptoms include upper gastrointestinal bleeding, weight loss, jaundice, and abdominal pain.	DOID:5751|NCIT:C5724|UMLS:C1335315|ORPHA:424073
MONDO:0003631	cervical serous adenocarcinoma	biolink:Disease	mondo	UMLS:C1516431|DOID:5752|NCIT:C40201		cervical serous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003631	A rare adenocarcinoma that arises from the cervix. It is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies are often seen.	DOID:5752|UMLS:C1516431|NCIT:C40201
MONDO:0003632	endocervicitis	biolink:Disease	mondo	UMLS:C0014127|SCTID:31354001|NCIT:C26762|DOID:5757		inflammation of endocervix|endocervix inflammation	http://purl.obolibrary.org/obo/MONDO_0003632	Inflammation of the endocervix.	DOID:5757|SNOMEDCT:31354001|NCIT:C26762|UMLS:C0014127
MONDO:0003633	malignant mesenchymoma	biolink:Disease	mondo	GARD:0003369|NCIT:C4268|ICDO:8990/3|DOID:5758		mesenchymoma, malignant|mesenchymoma, malignant (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003633	A term describing a malignant soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation.	DOID:5758|NCIT:C4268
UBERON:0014892	skeletal muscle organ	biolink:AnatomicalEntity	mondo			skeletal muscle	http://purl.obolibrary.org/obo/UBERON_0014892	A muscle organ that consists of skeletal muscle tissue ensheathed in epimysium, that develops from myotome and that is innervated by some somatic motor neuron. Skeletal muscles are typically attached (via a tendon) to a bone but there are exceptions (e.g. intrinsic tongue muscles).	
MONDO:0015601	X-linked intellectual disability, van Esch type	biolink:Disease	mondo	SCTID:718914002|UMLS:CN226711|OMIM:301030|Orphanet:163976|ICD10:Q87.8	ordo_malformation_syndrome	VAN ESCH-O'DRISCOLL SYNDROME; VEODS|Mental Retardation, X-Linked, Syndromic, Van Esch-O'Driscoll Type	http://purl.obolibrary.org/obo/MONDO_0015601	X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism.	SNOMEDCT:718914002|UMLS:CN226711|ORPHA:163976|http://identifiers.org/omim/301030
MONDO:0015600	X-linked intellectual disability, Cilliers type	biolink:Disease	mondo	Orphanet:163971|UMLS:CN226710|SCTID:719013004|ICD10:Q87.8	ordo_disease	X-linked intellectual disability-microcephaly-testicular failure syndrome	http://purl.obolibrary.org/obo/MONDO_0015600	X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears).	UMLS:CN226710|ORPHA:163971|SNOMEDCT:719013004
MONDO:0015605	distal monosomy 9p	biolink:Disease	mondo	ICD10:Q93.5|SCTID:763530000|Orphanet:1642|MESH:C538025	ordo_malformation_syndrome	telomeric deletion 9p|monosomy 9pter|distal monosomy type 9p|distal deletion 9p	http://purl.obolibrary.org/obo/MONDO_0015605	Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma.	MESH:C538025|ORPHA:1642|SNOMEDCT:763530000
MONDO:0015604	middle ear anomaly	biolink:Disease	mondo	MedDRA:10060957|Orphanet:164004|ICD10:Q16.4|ICD10:Q16.3	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015604		ORPHA:164004|UMLS:C0266599|MEDDRA:10060957
MONDO:0015603	rare odontal or periodontal disorder	biolink:Disease	mondo	UMLS:CN226712|Orphanet:164001	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0015603		ORPHA:164001|UMLS:CN226712
GO:0001909	leukocyte mediated cytotoxicity	biolink:OntologyClass	mondo			leucocyte mediated cytotoxicity|immune cell mediated cytotoxicity|immune cell mediated cell death|immune cell mediated cell killing	http://purl.obolibrary.org/obo/GO_0001909	The directed killing of a target cell by a leukocyte.	
MONDO:0015602	obsolete developmental delay-deafness syndrome, Hildebrand type	biolink:Disease	mondo	Orphanet:163988|UMLS:CN199975			http://purl.obolibrary.org/obo/MONDO_0015602		ORPHA:163988|UMLS:CN199975
HGNC:7132	KMT2A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7132		
GO:0001906	cell killing	biolink:OntologyClass	mondo			necrosis	http://purl.obolibrary.org/obo/GO_0001906	Any process in an organism that results in the killing of its own cells or those of another organism, including in some cases the death of the other organism. Killing here refers to the induction of death in one cell by another cell, not cell-autonomous death due to internal or other environmental conditions.	
MONDO:0003627	rheumatic pulmonary valve disease	biolink:Disease	mondo	DOID:5748|UMLS:C0155579|COHD:317296|SCTID:18687009|ICD10:I09.89|ICD9:397.1		rheumatologic disorder of pulmonary valve|rheumatic pulmonary incompetence|rheumatic disease of pulmonary valve|pulmonary valve rheumatologic disorder	http://purl.obolibrary.org/obo/MONDO_0003627	A rheumatologic disorder that involves the pulmonary valve.	SNOMEDCT:18687009|DOID:5748|UMLS:C0155579
MONDO:0003628	pulmonary valve disease	biolink:Disease	mondo	DOID:5749|SCTID:76267008|NCIT:C78579|UMLS:C0034087|ICD9:424.3|COHD:319845		pulmonary valve disease|disorder of pulmonary valve|disease or disorder of pulmonary valve|disease of pulmonary valve|pulmonary valve disease or disorder|pulmonary valve disorder|disorder of pulmonary valve	http://purl.obolibrary.org/obo/MONDO_0003628	A disease involving the pulmonary valve.	NCIT:C78579|DOID:5749|SNOMEDCT:76267008|UMLS:C0034087
HGNC:7133	KMT2D	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7133		
MONDO:0003629	uterine corpus serous adenocarcinoma	biolink:Disease	mondo	UMLS:C1336921|ONCOTREE:USC|DOID:5750		uterine papillary serous carcinoma|uterine serous carcinoma/uterine papillary serous carcinoma|body of uterus serous adenocarcinoma|uterine serous carcinoma	http://purl.obolibrary.org/obo/MONDO_0003629	A serous adenocarcinoma that involves the uterine corpus.	DOID:5750|UMLS:C1336921
MONDO:0003601	mediastinum liposarcoma	biolink:Disease	mondo	NCIT:C6614|UMLS:C1334663|DOID:5713		mediastinal liposarcoma|mediastinum liposarcoma|lip mediastinum sarcoma|liposarcoma of mediastinum|liposarcoma of the mediastinum	http://purl.obolibrary.org/obo/MONDO_0003601	A malignant adipose tissue neoplasm of the anterior, middle or posterior mediastinum.	UMLS:C1334663|DOID:5713|NCIT:C6614
MONDO:0003602	intracranial liposarcoma	biolink:Disease	mondo	UMLS:C1334242|DOID:5714|NCIT:C6973			http://purl.obolibrary.org/obo/MONDO_0003602	A malignant adipose tissue neoplasm of the intracranial region.	UMLS:C1334242|DOID:5714|NCIT:C6973
MONDO:0003603	non-functioning pituitary gland neoplasm	biolink:Disease	mondo	NCIT:C4009|SCTID:448563005		non-functioning tumor of pituitary gland|non-functioning tumor of the pituitary|nonfunctional pituitary gland neoplasm|non-functioning tumor of pituitary|non-functioning neoplasm of the pituitary gland|non-functioning neoplasm of pituitary gland|Nonfunctioning pituitary tumor|non-functioning neoplasm of the pituitary|non-functioning pituitary gland tumor|non-functioning neoplasm of pituitary|non-functioning pituitary tumor|pituitary gland non-functioning endocrine neoplasm|non-functioning pituitary neoplasm|non-functioning endocrine neoplasm of pituitary gland|non-functioning pituitary gland neoplasm|non-functioning tumor of the pituitary gland	http://purl.obolibrary.org/obo/MONDO_0003603	A hormone producing or non-producing pituitary gland adenoma or carcinoma, not associated with a hormonal syndrome.	SNOMEDCT:448563005|NCIT:C4009
ECTO:0000922	EC 3.5.1.4 (amidase) inhibitor exposure	biolink:OntologyClass	mondo			exposure to EC 3.5.1.4 (amidase) inhibitor	http://purl.obolibrary.org/obo/ECTO_0000922	An exposure to EC 3.5.1.4 (amidase) inhibitor.	
MONDO:0003604	functioning pituitary gland neoplasm	biolink:Disease	mondo	ICD9:237.0|DOID:5716|SCTID:448148000|UMLS:C3163678|NCIT:C7047|UMLS:C0851693		functioning pituitary tumor|functioning pituitary gland neoplasm|growth hormone producing pituitary tumor|secretory pituitary tumor|hormone producing pituitary neoplasm|pituitary gland functioning endocrine neoplasm|somatotropinoma|hormone producing pituitary cancer|pituitary tumors, hormone producing|functioning endocrine neoplasm of pituitary gland|pituitary neoplasms, hormone producing|functioning pituitary neoplasm	http://purl.obolibrary.org/obo/MONDO_0003604	A hormone producing pituitary gland tumor, associated with a hormonal syndrome.	UMLS:C0851693|DOID:5716|NCIT:C7047|UMLS:C3163678|SNOMEDCT:448148000
GO:0050921	positive regulation of chemotaxis	biolink:OntologyClass	mondo			upregulation of chemotaxis|stimulation of chemotaxis|up regulation of chemotaxis|up-regulation of chemotaxis|activation of chemotaxis	http://purl.obolibrary.org/obo/GO_0050921	Any process that activates or increases the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient.	
GO:0050922	negative regulation of chemotaxis	biolink:OntologyClass	mondo			down regulation of chemotaxis|inhibition of chemotaxis|down-regulation of chemotaxis|downregulation of chemotaxis	http://purl.obolibrary.org/obo/GO_0050922	Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient.	
GO:0050920	regulation of chemotaxis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0050920	Any process that modulates the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient.	
MONDO:0003600	cutaneous liposarcoma	biolink:Disease	mondo	NCIT:C5615|DOID:5712|UMLS:C1333175		cutaneous liposarcoma|liposarcoma of zone of skin|liposarcoma of the skin|liposarcoma of skin|zone of skin liposarcoma|skin liposarcoma	http://purl.obolibrary.org/obo/MONDO_0003600	A malignant adipose tissue neoplasm of the skin.	UMLS:C1333175|DOID:5712|NCIT:C5615
UBERON:0014885	distal epiphysis of distal phalanx of manual digit 5	biolink:AnatomicalEntity	mondo			distal epiphysis of distal phalanx of manual digit V|distal epiphysis of distal phalanx of little finger|head of distal phalanx of fifth finger|distal end of distal phalanx of little finger|distal end of distal phalanx of fifth finger|ungual tuberosity of distal phalanx of little finger|head of distal phalanx of little finger|head of distal phalanx of fifth digit of hand	http://purl.obolibrary.org/obo/UBERON_0014885	A distal epiphysis that is part of a distal phalanx of manual digit 5.	
UBERON:0014886	distal epiphysis of distal phalanx of manual digit	biolink:AnatomicalEntity	mondo			distal end of distal phalanx of finger|head of distal phalanx of digit of manus|head of distal phalanx of digit of hand|head of distal phalanx of finger	http://purl.obolibrary.org/obo/UBERON_0014886		
UBERON:0014887	distal epiphysis of distal phalanx of digit	biolink:AnatomicalEntity	mondo			head of distal phalanx of digit of autopod|distal end of distal phalanx of digit|head of distal phalanx|head of distal phalanx of digit	http://purl.obolibrary.org/obo/UBERON_0014887	A distal epiphysis that is part of a distal phalanx.	
UBERON:0014881	distal epiphysis of distal phalanx of manual digit 1	biolink:AnatomicalEntity	mondo			ungual tuberosity of distal phalanx of thumb|head of distal phalanx of thumb|head of distal phalanx of first digit of hand|distal end of phalanx of right thumb|distal epiphysis of distal phalanx of manual digit I|distal epiphysis of distal phalanx of thumb	http://purl.obolibrary.org/obo/UBERON_0014881	A distal epiphysis that is part of a distal phalanx of manual digit 1.	
HGNC:7146	TRPM1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7146		
ECTO:0000931	environmental contaminant exposure	biolink:OntologyClass	mondo			exposure to environmental contaminant	http://purl.obolibrary.org/obo/ECTO_0000931	An exposure to environmental contaminant.	
MONDO:0003612	uterine ligament cancer	biolink:Disease	mondo	NCIT:C126498|UMLS:C0864950|DOID:5727		tumor of the uterine ligament|cancer of uterine ligament|uterine ligament cancer|malignant uterine ligament neoplasm|malignant neoplasm of uterine ligament	http://purl.obolibrary.org/obo/MONDO_0003612	A primary or metastatic malignant neoplasm that affects the uterine ligament.	DOID:5727|NCIT:C126498|UMLS:C0864950
MONDO:0003613	obsolete diffuse peritoneal leiomyomatosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003613		
MONDO:0003614	intravenous leiomyomatosis	biolink:Disease	mondo	SCTID:254883003|ICD9:238.1|GARD:0010802|DOID:5729|UMLS:C0346200|NCIT:C4518	gard_rare	intravenous leiomyomatosis	http://purl.obolibrary.org/obo/MONDO_0003614	A rare benign neoplasm characterized by the presence of smooth muscle cells growing within veins.	DOID:5729|NCIT:C4518|UMLS:C0346200|SNOMEDCT:254883003
MONDO:0003615	nerve compression syndrome	biolink:Disease	mondo	MESH:D009408|SCTID:45781009|NCIT:C27221|DOID:573		entrapment neuropathy|peripheral nerve entrapment syndrome|compression neuropathy	http://purl.obolibrary.org/obo/MONDO_0003615	Any nerve disorder caused by the entrapment and compression of a nerve.	MESH:D009408|DOID:573|NCIT:C27221|SNOMEDCT:45781009
MONDO:0003610	rete ovarii cystadenoma	biolink:Disease	mondo	DOID:5725|NCIT:C40019|UMLS:C1514907		rete ovarii cystadenoma	http://purl.obolibrary.org/obo/MONDO_0003610	An exceptionally rare cystadenoma that arises from the rete ovarii.	UMLS:C1514907|DOID:5725|NCIT:C40019
HGNC:7150	MLYCD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7150		
NCBITaxon:359160	BOP clade	organism taxon	mondo	GC_ID:1		BEP clade	http://purl.obolibrary.org/obo/NCBITaxon_359160		
MONDO:0003611	uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease	biolink:Disease	mondo	DOID:5726|NCIT:C40142|UMLS:C3642324		uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease|uterine ligament papillary cystadenoma	http://purl.obolibrary.org/obo/MONDO_0003611	A benign mesonephric neoplasm that arises from the uterine ligament and occurs in women with von Hippel-Lindau disease. It is a cystic lesion characterized by the presence of multiple papillary excrescences.	DOID:5726|UMLS:C3642324|NCIT:C40142
UBERON:0014875	distal epiphysis of distal phalanx of pedal digit 5	biolink:AnatomicalEntity	mondo			head of distal phalanx of fifth digit of foot|head of distal phalanx of little toe|distal epiphysis of distal phalanx of pedal digit V|ungual tuberosity of distal phalanx of fifth toe|distal end of distal phalanx of little toe|head of distal phalanx of fifth toe|distal epiphysis of distal phalanx of little toe	http://purl.obolibrary.org/obo/UBERON_0014875	A distal epiphysis that is part of a distal phalanx of pedal digit 5.	
UBERON:0014876	distal epiphysis of distal phalanx of pedal digit	biolink:AnatomicalEntity	mondo			distal end of distal phalanx of toe|head of distal phalanx of digit of pes|head of distal phalanx of toe|head of distal phalanx of digit of foot	http://purl.obolibrary.org/obo/UBERON_0014876		
UBERON:0014871	distal epiphysis of distal phalanx of pedal digit 1	biolink:AnatomicalEntity	mondo			ungual tuberosity of distal phalanx of big toe|head of distal phalanx of big toe|head of distal phalanx of great toe|distal epiphysis of distal phalanx of pedal digit I|head of distal phalanx of first digit of foot|distal epiphysis of distal phalanx of big toe|distal end of distal phalanx of big toe	http://purl.obolibrary.org/obo/UBERON_0014871	A distal epiphysis that is part of a distal phalanx of pedal digit 1.	
HGNC:7159	MMP13	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7159		
MONDO:0003609	seminal vesicle cystadenoma	biolink:Disease	mondo	UMLS:C1519234|DOID:5724|NCIT:C39907		seminal vesicle cystadenoma	http://purl.obolibrary.org/obo/MONDO_0003609	A rare benign cystadenoma that arises from the seminal vesicle.	NCIT:C39907|DOID:5724|UMLS:C1519234
HGNC:7154	MME	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7154		
MONDO:0003605	obsolete adrenal neuroblastoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003605	A neuroblastoma arising from the adrenal gland.	
MONDO:0003606	adrenal medulla cancer	biolink:Disease	mondo	DOID:5719|UMLS:C0344456|ICD10:C74.1|GARD:0005755|NCIT:C4396|SCTID:371965009	gard_rare	malignant neoplasm of the adrenal medulla|malignant adrenal medulla tumor|adrenal medulla tumor|malignant tumor of adrenal medulla|adrenal medulla neoplasm|malignant neoplasm of adrenal medulla|malignant adrenal medulla neoplasm|cancer of adrenal medulla|malignant tumor of the adrenal medulla|adrenal medulla cancer	http://purl.obolibrary.org/obo/MONDO_0003606	A malignant neoplasm involving the adrenal medulla	NCIT:C4396|UMLS:C0344456|DOID:5719|SNOMEDCT:371965009
HGNC:7155	MMP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7155		
MONDO:0003607	neuritis of upper limb	biolink:Disease	mondo	DOID:572|ICD9:354		neuritis of forelimb|forelimb neuritis	http://purl.obolibrary.org/obo/MONDO_0003607	A neuritis that involves the forelimb.	DOID:572
MONDO:0003608	optic atrophy	biolink:Disease	mondo	SCTID:76976005|UMLS:C1744705|OMIMPS:165500|ICD9:377.1|MESH:D009896|ICD9:377.10|UMLS:C0029124|DOID:5723|ICD10:H47.2|ICD10:H47.20|NCIT:C34863|COHD:372914		atrophy of optic disc	http://purl.obolibrary.org/obo/MONDO_0003608	A disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and multiple sclerosis. It leads to vision disturbances.	UMLS:C0029124|UMLS:C1744705|MESH:D009896|DOID:5723|NCIT:C34863|SNOMEDCT:76976005
GO:0035306	positive regulation of dephosphorylation	biolink:OntologyClass	mondo			up-regulation of dephosphorylation|up regulation of dephosphorylation|activation of dephosphorylation|stimulation of dephosphorylation|upregulation of dephosphorylation	http://purl.obolibrary.org/obo/GO_0035306	Any process that activates or increases the frequency, rate or extent of removal of phosphate groups from a molecule.	
GO:1900077	negative regulation of cellular response to insulin stimulus	biolink:OntologyClass	mondo			down regulation of cellular response to insulin stimulus|downregulation of cellular response to insulin stimulus|inhibition of cellular response to insulin stimulus|down-regulation of cellular response to insulin stimulus	http://purl.obolibrary.org/obo/GO_1900077	Any process that stops, prevents or reduces the frequency, rate or extent of cellular response to insulin stimulus.	
GO:1900076	regulation of cellular response to insulin stimulus	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1900076	Any process that modulates the frequency, rate or extent of cellular response to insulin stimulus.	
GO:1900078	positive regulation of cellular response to insulin stimulus	biolink:OntologyClass	mondo			up-regulation of cellular response to insulin stimulus|up regulation of cellular response to insulin stimulus|activation of cellular response to insulin stimulus|upregulation of cellular response to insulin stimulus	http://purl.obolibrary.org/obo/GO_1900078	Any process that activates or increases the frequency, rate or extent of cellular response to insulin stimulus.	
HP:0010606	Hordeolum	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:397513003|UMLS:C4280376|MSH:D006726|UMLS:C0019917|SNOMEDCT_US:1489008		Stye of eyelid|Red bump on eyelid	http://purl.obolibrary.org/obo/HP_0010606	An acute purulent infection of the sebaceous glands of Zeis at the base of the eyelashes, of the apocrine sweat glands of Moll or the meibomian sebacious glands often caused by staphylococcus infections. Hordeola can either occur as Hordeola externa affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll or as Hordeola interna affecting the meibomian sebacious glands. In contrast to chalazia, hordeola are extremely painful and can cause extreme local swelling.	
GO:0035303	regulation of dephosphorylation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0035303	Any process that modulates the frequency, rate or extent of removal of phosphate groups from a molecule.	
GO:0035305	negative regulation of dephosphorylation	biolink:OntologyClass	mondo			down regulation of dephosphorylation|downregulation of dephosphorylation|inhibition of dephosphorylation|down-regulation of dephosphorylation	http://purl.obolibrary.org/obo/GO_0035305	Any process the stops, prevents, or reduces the frequency, rate or extent of removal of phosphate groups from a molecule.	
ENVO:01000820	pedosphere	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000820	An astronomical body part which is composed of soil, subject to soil formation processes, and found on the surface of a lithosphere.	
NCBITaxon:1897064	Cryptococcus neoformans species complex	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1897064		
CHEBI:49475	argon atom	biolink:ChemicalSubstance	mondo			Ar|argon|18Ar|argon	http://purl.obolibrary.org/obo/CHEBI_49475		
HGNC:9701	PURA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9701		
HGNC:9706	NECTIN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9706		
UBERON:0002827	vestibulocochlear ganglion	biolink:AnatomicalEntity	mondo			statoacoustic (VIII) ganglion|statoacoustic ganglia|auditory ganglion|acoustico-vestibular VIII ganglion|SAG|gVIII|nucleus nervi oculomotorii ventrolateralis|acoustic ganglion VIII|acoustic ganglion|vestibulocochlear VIII ganglion|vestibulocochlear ganglia|statoacoustic VIII ganglion|auditory ganglion|ganglion VIII|nucleus nervi oculomotorii, pars ventralis|statoacoustic ganglion	http://purl.obolibrary.org/obo/UBERON_0002827	the group of neuron cell bodies associated with the eighth cranial nerve during embryogenesis; splits in later development to form the cochlear and vestibular ganglia	
UBERON:0002824	vestibular ganglion	biolink:AnatomicalEntity	mondo			vestibulocochlear VIII ganglion vestibular component|nucleus nervi oculomotorii, pars medialis|vestibulocochlear ganglion vestibular component|Scarpa's ganglion|vestibular part of vestibulocochlear ganglion	http://purl.obolibrary.org/obo/UBERON_0002824	The ganglion of the vestibular nerve. It contains the cell bodies of the bipolar primary afferent neurons whose peripheral processes form synaptic contact with hair cells of the vestibular sensory end organs[WP,unvetted]. Distributed to the maculae of the utricle and saccule and to the ampullary crests of the semicircular ducts. The vestibular fibers arise in bipolar cells in the vestibular ganglion in the internal acoustic meatus.	
HGNC:9713	PEX19	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9713		
HGNC:9717	PEX2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9717		
UBERON:0002812	left cerebral hemisphere	biolink:AnatomicalEntity	mondo			left hemisphere	http://purl.obolibrary.org/obo/UBERON_0002812	A cerebral hemisphere that is in the left side of a brain.	
UBERON:0002811	left frontal lobe	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0002811	A frontal cortex that is part of a left cerebral hemisphere.	
UBERON:0002813	right cerebral hemisphere	biolink:AnatomicalEntity	mondo			right hemisphere	http://purl.obolibrary.org/obo/UBERON_0002813	A cerebral hemisphere that is in the right side of a brain.	
ENVO:01000817	biosphere	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000817	A biosphere is a part of an astronomical body which includes, as parts, all the living entities within the gravitational sphere of influence of that body, as well as the non-living and dead entities with which they interact.	
ENVO:01000818	cryosphere	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000818	A cryosphere is that part of a planet which is primarily composed of water is in solid form.	
HGNC:9719	PEX5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9719		
ENVO:01000819	hydrosphere	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000819	An astronomical body part which is composed of the combined mass of water found on, under, and over the surface of a planet.	
ENVO:01000813	astronomical body part	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000813	A material part of an astronomical body.	
ENVO:01000814	solid environmental material	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000814	An environmental material which is in a solid state.	
ENVO:01000815	liquid environmental material	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000815	An environmental material which is in a liquid state.	
HGNC:9725	PYGL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9725		
HGNC:9722	ALDH18A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9722		
HGNC:9726	PYGM	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9726		
HP:0010622	Neoplasm of the skeletal system	biolink:PhenotypicFeature	mondo	NCIT:C3262|UMLS:C2732838|UMLS:C4020771|SNOMEDCT_US:442868003		Neoplasia of the skeletal system|Skeletal tumor|Bone neoplasm	http://purl.obolibrary.org/obo/HP_0010622	A tumor (abnormal growth of tissue) of the skeleton.	
GO:0001959	regulation of cytokine-mediated signaling pathway	biolink:OntologyClass	mondo			regulation of cytokine mediated signalling pathway|regulation of cytokine and chemokine mediated signaling pathway|regulation of cytokine mediated signaling pathway	http://purl.obolibrary.org/obo/GO_0001959	Any process that modulates the frequency, rate or extent of the cytokine mediated signaling pathway.	
HGNC:9721	PYCR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9721		
UBERON:0002805	right limbic lobe	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0002805	A limbic lobe that is part of a right cerebral hemisphere.	
GO:0001961	positive regulation of cytokine-mediated signaling pathway	biolink:OntologyClass	mondo			positive regulation of cytokine mediated signalling pathway|up-regulation of cytokine mediated signaling pathway|positive regulation of cytokine and chemokine mediated signaling pathway|up regulation of cytokine mediated signaling pathway|activation of cytokine mediated signaling pathway|positive regulation of cytokine mediated signaling pathway|stimulation of cytokine mediated signaling pathway|upregulation of cytokine mediated signaling pathway	http://purl.obolibrary.org/obo/GO_0001961	Any process that activates or increases the frequency, rate or extent of a cytokine mediated signaling pathway.	
UBERON:0002804	left limbic lobe	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0002804	A limbic lobe that is part of a left cerebral hemisphere.	
ENVO:01000800	planet	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000800	A planet is an astronomical body orbiting a star or stellar remnant that is massive enough to be rounded by its own gravity, is not massive enough to cause thermonuclear fusion, and has cleared its neighbouring region of planetesimals.	
UBERON:0002807	right occipital lobe	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0002807	An occipital lobe that is part of a right cerebral hemisphere.	
UBERON:0002806	left occipital lobe	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0002806	An occipital lobe that is part of a left cerebral hemisphere.	
GO:0001964	startle response	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0001964	An action or movement due to the application of a sudden unexpected stimulus.	
ENVO:01000801	star	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000801	An astronomical object which is composed primarily of luminous plasma held in a spherical form by gravitational forces.	
CHEBI:50427	platelet aggregation inhibitor	biolink:ChemicalSubstance	mondo			platelet aggregation inhibitors	http://purl.obolibrary.org/obo/CHEBI_50427	A drug or agent which antagonizes or impairs any mechanism leading to blood platelet aggregation, whether during the phases of activation and shape change or following the dense-granule release reaction and stimulation of the prostaglandin-thromboxane system.	
UBERON:0002803	right parietal lobe	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0002803	Parietal lobe of the right hemisphere of the brain	
GO:0001960	negative regulation of cytokine-mediated signaling pathway	biolink:OntologyClass	mondo			down regulation of cytokine mediated signaling pathway|inhibition of cytokine mediated signaling pathway|downregulation of cytokine mediated signaling pathway|negative regulation of cytokine and chemokine mediated signaling pathway|negative regulation of cytokine mediated signaling pathway|down-regulation of cytokine mediated signaling pathway|negative regulation of cytokine mediated signalling pathway	http://purl.obolibrary.org/obo/GO_0001960	Any process that stops, prevents, or reduces the frequency, rate or extent of the cytokine mediated signaling pathway.	
UBERON:0002802	left parietal lobe	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0002802	Parietal lobe of the left hemisphere of the brain	
UBERON:0002809	right temporal lobe	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0002809	A temporal lobe that is part of a right cerebral hemisphere.	
UBERON:0002808	left temporal lobe	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0002808	A temporal lobe that is part of a left cerebral hemisphere.	
ENVO:01000804	astronomical object	biolink:OntologyClass	mondo			celestial object	http://purl.obolibrary.org/obo/ENVO_01000804	An object which is composed of one or more gravitationally bound structures that are associated with a position in space.	
UBERON:0002810	right frontal lobe	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0002810	A frontal cortex that is part of a right cerebral hemisphere.	
GO:0098840	protein transport along microtubule	biolink:OntologyClass	mondo			microtubule-based protein transport	http://purl.obolibrary.org/obo/GO_0098840	The directed movement of a protein along a microtubule, mediated by motor proteins.	
ENVO:01000798	plasma	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000798	A material entity which is composed of a volume of unbound positive and negative particles in roughly equal numbers, conducts electricity, and possesses internal magnetic fields.	
ENVO:01000799	astronomical body	biolink:OntologyClass	mondo			celestial body	http://purl.obolibrary.org/obo/ENVO_01000799	An object which is naturally occuring, bound together by gravitational or electromagnetic forces, and surrounded by space.	
MONDO:0001089	acute inferolateral myocardial infarction	biolink:Disease	mondo	ICD9:410.22|ICD9:410.21|UMLS:C0340308|ICD9:410.20|DOID:10649|SCTID:65547006		acute inferolateral myocardial infarction|acute myocardial infarction of inferolateral wall	http://purl.obolibrary.org/obo/MONDO_0001089		SNOMEDCT:65547006|UMLS:C0340308|DOID:10649
MONDO:0013070	spermatogenic failure 7	biolink:Disease	mondo	UMLS:C2751811|DOID:0070173|OMIM:612997|MESH:C567832		Male infertility, nonsyndromic, autosomal recessive|spermatogenic failure 7; SPGF7|spermatogenic failure 7|SPGF7|spermatogenic failure type 7	http://purl.obolibrary.org/obo/MONDO_0013070		UMLS:C2751811|DOID:0070173|MESH:C567832|http://identifiers.org/omim/612997
ENVO:01000797	gaseous environmental material	biolink:OntologyClass	mondo			gas	http://purl.obolibrary.org/obo/ENVO_01000797	A material entity which is composed of one or more chemical entities and has neither independent shape nor volume but tends to expand indefinitely.	
MONDO:0001084	primary optic atrophy	biolink:Disease	mondo	ICD10:H47.21|ICD9:377.11|UMLS:C0155291|DOID:10627|SCTID:21098003|COHD:380729			http://purl.obolibrary.org/obo/MONDO_0001084		UMLS:C0155291|SNOMEDCT:21098003|DOID:10627
MONDO:0001083	Fanconi renotubular syndrome	biolink:Disease	mondo	OMIMPS:134600|MESH:D005198|DOID:1062|UMLS:C0015624|DC:0000148|GARD:0009120|SCTID:40488004|NCIT:C3034	gard_rare	toni-debre-Fanconi syndrome|congenital Fanconi syndrome|infantile nephropathic cystinosis|deToni Fanconi syndrome|Fanconi's syndrome|Fanconi-de-toni syndrome|adult Fanconi syndrome|De toni-debre-Fanconi syndrome|Fanconi-de toni syndrome|Fanconi syndrome|De toni-Fanconi syndrome|Lignac-Fanconi syndrome	http://purl.obolibrary.org/obo/MONDO_0001083	A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.	SNOMEDCT:40488004|DOID:1062|MESH:D005198|NCIT:C3034|UMLS:C0015624
MONDO:0001082	lymph node cancer	biolink:Disease	mondo	ICD9:239.89|NCIT:C35812|DOID:10619|SCTID:127232002		lymph node neoplasm|cancer of lymph node|malignant neoplasm of lymph node|malignant lymph node neoplasm|lymph node cancer	http://purl.obolibrary.org/obo/MONDO_0001082	A primary or metastatic malignant tumor involving the lymph node. Lymphomas and metastatic carcinomas are representative examples. -- 2004	DOID:10619|SNOMEDCT:127232002|NCIT:C35812
MONDO:0001081	acute cervicitis	biolink:Disease	mondo	SCTID:19272000|NCIT:C27056|UMLS:C0269061|DOID:10616		cervicitis (disease), acute|acute cervicitis (disease)	http://purl.obolibrary.org/obo/MONDO_0001081	Acute inflammation of the cervix. Clinical manifestations include mucopurulent vaginal discharge and burning sensation.	NCIT:C27056|UMLS:C0269061|SNOMEDCT:19272000|DOID:10616
MONDO:0001088	acute inferoposterior infarction	biolink:Disease	mondo	ICD9:410.32|ICD9:410.31|UMLS:C0340304|SCTID:76593002|ICD9:410.30|DOID:10648		acute myocardial infarction of inferoposterior wall|acute inferoposterior myocardial infarction|acute inferoposterior infarction	http://purl.obolibrary.org/obo/MONDO_0001088		UMLS:C0340304|DOID:10648|SNOMEDCT:76593002
GO:1902652	secondary alcohol metabolic process	biolink:OntologyClass	mondo			secondary alcohol metabolism	http://purl.obolibrary.org/obo/GO_1902652	The chemical reactions and pathways involving secondary alcohol.	
MONDO:0001087	schizotypal personality disorder	biolink:Disease	mondo	DOID:10646|MESH:D012569|SCTID:31027006|ICD9:301.22|COHD:434010|NCIT:C92632|ICD10:F21			http://purl.obolibrary.org/obo/MONDO_0001087	A disorder characterized by an enduring pattern of inability to establish close relationships coupled with cognitive or perceptual distortions, odd beliefs and speech, and eccentric behavior and appearance.	MESH:D012569|NCIT:C92632|DOID:10646|SNOMEDCT:31027006
GO:1902653	secondary alcohol biosynthetic process	biolink:OntologyClass	mondo			secondary alcohol synthesis|secondary alcohol formation|secondary alcohol anabolism|secondary alcohol biosynthesis	http://purl.obolibrary.org/obo/GO_1902653	The chemical reactions and pathways resulting in the formation of secondary alcohol.	
MONDO:0001086	partial optic atrophy	biolink:Disease	mondo	UMLS:C0155295|ICD9:377.15|SCTID:111527005|DOID:10631|COHD:381861			http://purl.obolibrary.org/obo/MONDO_0001086		SNOMEDCT:111527005|UMLS:C0155295|DOID:10631
MONDO:0001085	interstitial nephritis	biolink:Disease	mondo	UMLS:C0041349|SCTID:28689008|DOID:1063|MESH:D009395|NCIT:C26834|UMLS:C0027707|ICD9:583.89|ICD10:N12		renal tubulo-interstitial disease|Tubulointerstitial nephritis	http://purl.obolibrary.org/obo/MONDO_0001085	Inflammation of the renal tubules and supporting tissues of the kidney.	UMLS:C0041349|DOID:1063|NCIT:C26834|UMLS:C0027707|SNOMEDCT:28689008|MESH:D009395
CL:0002540	mesenchymal stem cell of the bone marrow	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002540	A mesenchymal stem cell that is part of the bone marrow.	
MONDO:0013079	primary biliary cholangitis 2	biolink:Disease	mondo	MESH:C567817|UMLS:C2751696|OMIM:613007		biliary cirrhosis, primary, 2; PBC2|PBC2|biliary cirrhosis, primary, 2	http://purl.obolibrary.org/obo/MONDO_0013079		UMLS:C2751696|http://identifiers.org/omim/613007|MESH:C567817
GO:0060235	lens induction in camera-type eye	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060235	Signaling at short range between the head ectoderm and the optic vesicle that results in the head ectoderm forming a lens.	
MONDO:0001080	acute gonococcal cervicitis	biolink:Disease	mondo	UMLS:C0153195|COHD:193136|SCTID:20943002|DOID:10615|ICD9:098.15		gonococcal cervicitis, acute|gonococcal cervicitis|acute gonorrhea of cervix|gonococcal cervicitis (acute)	http://purl.obolibrary.org/obo/MONDO_0001080	Acute form of gonococcal cervicitis.	UMLS:C0153195|DOID:10615|SNOMEDCT:20943002
CL:0002543	vein endothelial cell	biolink:Cell	mondo	KUPO:0001099|FMA:62104		venous endothelial cell|endothelial cell of vein	http://purl.obolibrary.org/obo/CL_0002543	An endothelial cell that is part of the vein.	
CL:0002546	embryonic blood vessel endothelial progenitor cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002546	An endothelial progenitor cell that participates in angiogenesis during development.	
MONDO:0013073	palmoplantar keratoderma, nonepidermolytic, focal 1	biolink:Disease	mondo	OMIM:613000|DOID:0111709		keratoderma, focal nonepidermolytic palmoplantar|palmoplantar keratoderma, nonepidermolytic, focal 1; FNEPPK1|palmoplantar keratoderma, nonepidermolytic, focal 1|nonepidermolytic palmoplantar keratoderma caused by mutation in KRT16|FNEPPK1|focal nonepidermolytic palmoplantar keratoderma|palmoplantar keratoderma, nonepidermolytic, focal type 1|KRT16 nonepidermolytic palmoplantar keratoderma|Ppkfne	http://purl.obolibrary.org/obo/MONDO_0013073	Any nonepidermolytic palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT16 gene.	DOID:0111709|http://identifiers.org/omim/613000
MONDO:0013074	encephalocraniocutaneous lipomatosis	biolink:Disease	mondo	Orphanet:2396|NCIT:C4701|MESH:C535736|ICD9:757.8|GARD:0002108|UMLS:C0406612|SCTID:238905009|OMIM:613001|ICD10:E88.2	gard_rare|ordo_disease	encephalocraniocutaneous lipomatosis; ECCL|encephalocraniocutaneous lipomatosis|ECCL|Fishman syndrome|Haberland syndrome	http://purl.obolibrary.org/obo/MONDO_0013074	A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations.	MESH:C535736|NCIT:C4701|http://identifiers.org/omim/613001|ORPHA:2396|UMLS:C0406612|SNOMEDCT:238905009
MONDO:0013071	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	biolink:Disease	mondo	DOID:0070249|OMIM:612998|UMLS:C2751807|MESH:C567831		EDMD4|autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE1|Emery-Dreifuss muscular dystrophy 4 with variable features|Emery-Dreifuss muscular dystrophy 4, autosomal dominant|SYNE1 autosomal dominant Emery-Dreifuss muscular dystrophy|EMERY-Dreifuss muscular dystrophy 4, autosomal dominant; EDMD4	http://purl.obolibrary.org/obo/MONDO_0013071	Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE1 gene.	UMLS:C2751807|DOID:0070249|MESH:C567831|http://identifiers.org/omim/612998
MONDO:0013072	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	biolink:Disease	mondo	DOID:0070250|OMIM:612999|UMLS:C2751805		EMERY-Dreifuss muscular dystrophy 5, autosomal dominant; EDMD5|EDMD5|autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE2|Emery-Dreifuss muscular dystrophy 5, autosomal dominant|SYNE2 autosomal dominant Emery-Dreifuss muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0013072	Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE2 gene.	UMLS:C2751805|DOID:0070250|http://identifiers.org/omim/612999
MONDO:0013077	Santos syndrome	biolink:Disease	mondo	OMIM:613005|UMLS:C2751698|MESH:C567819		fibular agenesis/hypoplasia, oligodactylous clubfeet, and anonychia/nail hypoplasia syndrome|Santos syndrome	http://purl.obolibrary.org/obo/MONDO_0013077		UMLS:C2751698|http://identifiers.org/omim/613005|MESH:C567819
MONDO:0013078	type 1 diabetes mellitus 24	biolink:Disease	mondo	OMIM:613006|UMLS:C2751697|MESH:C567818|DOID:0110761|ICD10:E10		insulin-dependent diabetes mellitus 24|IDDM24|diabetes mellitus, insulin-dependent, 24; IDDM24|diabetes mellitus, insulin-dependent, 24	http://purl.obolibrary.org/obo/MONDO_0013078	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q23.31.	DOID:0110761|UMLS:C2751697|http://identifiers.org/omim/613006|MESH:C567818
MONDO:0013075	herpes simplex encephalitis, susceptibility to, 2	biolink:Disease	mondo	OMIM:613002	predisposition	encephalopathy, acute, infection-induced, susceptibility to, 2|Herpes simplex encephalitis, susceptibility to, type 2|encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 2|encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 2; IIAE2|herpes simplex encephalitis, susceptibility to, 2|IIAE2	http://purl.obolibrary.org/obo/MONDO_0013075		http://identifiers.org/omim/613002
MONDO:0013076	attention deficit-hyperactivity disorder, susceptibility to, 7	biolink:Disease	mondo	OMIM:613003	predisposition	susceptibility to attention deficit-hyperactivity disorder 7|attention Deficit-hyperactivity disorder, susceptibility to, type 7|Adhd7|attention deficit-hyperactivity disorder, susceptibility to, 7	http://purl.obolibrary.org/obo/MONDO_0013076		http://identifiers.org/omim/613003
GO:1902669	positive regulation of axon guidance	biolink:OntologyClass	mondo			activation of axon chemotaxis|activation of axon guidance|upregulation of axon pathfinding|up-regulation of axon growth cone guidance|positive regulation of axon pathfinding|upregulation of axon guidance|up-regulation of axon chemotaxis|up regulation of axon growth cone guidance|up regulation of axon pathfinding|positive regulation of axon growth cone guidance|up regulation of axon chemotaxis|up-regulation of axon pathfinding|positive regulation of axon chemotaxis|activation of axon pathfinding|upregulation of axon growth cone guidance|up-regulation of axon guidance|activation of axon growth cone guidance|up regulation of axon guidance|upregulation of axon chemotaxis	http://purl.obolibrary.org/obo/GO_1902669	Any process that activates or increases the frequency, rate or extent of axon guidance.	
MONDO:0001095	mediastinum neuroblastoma	biolink:Disease	mondo	UMLS:C1334673|DOID:10660|EFO:1000367|NCIT:C6628		mediastinum neuroblastoma|neuroblastoma of mediastinum|mediastinal neuroblastoma|neuroblastoma of the mediastinum	http://purl.obolibrary.org/obo/MONDO_0001095	A neuroblastoma arising from the mediastinum.	NCIT:C6628|DOID:10660|UMLS:C1334673
GO:1902667	regulation of axon guidance	biolink:OntologyClass	mondo			regulation of axon growth cone guidance|regulation of axon chemotaxis|regulation of axon pathfinding	http://purl.obolibrary.org/obo/GO_1902667	Any process that modulates the frequency, rate or extent of axon guidance.	
GO:1900004	negative regulation of serine-type endopeptidase activity	biolink:OntologyClass	mondo			down regulation of serine-type endopeptidase activity|negative regulation of blood coagulation factor activity|down regulation of blood coagulation factor activity	http://purl.obolibrary.org/obo/GO_1900004	Any process that stops, prevents or reduces the frequency, rate or extent of serine-type endopeptidase activity.	
MONDO:0001094	residual stage of open angle glaucoma	biolink:Disease	mondo	DOID:1066|COHD:437542|ICD9:365.15|SCTID:66990007|ICD10:H40.15|UMLS:C0154944		open-angle glaucoma residual stage|residual stage of open angle glaucoma	http://purl.obolibrary.org/obo/MONDO_0001094		DOID:1066|SNOMEDCT:66990007|UMLS:C0154944
GO:1902668	negative regulation of axon guidance	biolink:OntologyClass	mondo			negative regulation of axon pathfinding|down-regulation of axon pathfinding|downregulation of axon growth cone guidance|down regulation of axon chemotaxis|down-regulation of axon guidance|downregulation of axon chemotaxis|inhibition of axon growth cone guidance|down regulation of axon guidance|downregulation of axon pathfinding|inhibition of axon guidance|down-regulation of axon growth cone guidance|negative regulation of axon growth cone guidance|inhibition of axon chemotaxis|downregulation of axon guidance|down regulation of axon pathfinding|down regulation of axon growth cone guidance|inhibition of axon pathfinding|negative regulation of axon chemotaxis|down-regulation of axon chemotaxis	http://purl.obolibrary.org/obo/GO_1902668	Any process that stops, prevents or reduces the frequency, rate or extent of axon guidance.	
GO:1900003	regulation of serine-type endopeptidase activity	biolink:OntologyClass	mondo			regulation of blood coagulation factor activity	http://purl.obolibrary.org/obo/GO_1900003	Any process that modulates the frequency, rate or extent of serine-type endopeptidase activity.	
NCBITaxon:1723728	unclassified Polyomaviridae	organism taxon	mondo	GC_ID:1		unassigned Polyomaviridae	http://purl.obolibrary.org/obo/NCBITaxon_1723728		
MONDO:0001093	colonic lymphangioma	biolink:Disease	mondo	NCIT:C5500|UMLS:C1333094|DOID:10657		colonic lymphangioma|lymphangioma of the colon|lymphangioma of colon|colon lymphangioma	http://purl.obolibrary.org/obo/MONDO_0001093	A lymphangioma arising from the colon.	NCIT:C5500|DOID:10657|UMLS:C1333094
GO:1900005	positive regulation of serine-type endopeptidase activity	biolink:OntologyClass	mondo			up regulation of blood coagulation factor activity|positive regulation of blood coagulation factor activity|up regulation of serine-type endopeptidase activity	http://purl.obolibrary.org/obo/GO_1900005	Any process that activates or increases the frequency, rate or extent of serine-type endopeptidase activity.	
MONDO:0001092	colon leiomyoma	biolink:Disease	mondo	UMLS:C1333092|NCIT:C5492|DOID:10656		leiomyoma of the colon|colon leiomyoma|colonic leiomyoma|leiomyoma of colon	http://purl.obolibrary.org/obo/MONDO_0001092	A well-circumscribed benign smooth muscle neoplasm arising from the colon. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	NCIT:C5492|DOID:10656|UMLS:C1333092
MONDO:0001099	lactocele	biolink:Disease	mondo	DOID:10686|NCIT:C3515|SCTID:42385006|GARD:0008401|ICD9:611.5|COHD:436167|ICD10:N64.89|MESH:C535998		lacteal cyst|galactocele|Galactocoele	http://purl.obolibrary.org/obo/MONDO_0001099	Single or multiple, milk-containing nodules in the breast. It is caused by obstruction of the breast ducts during lactation. Needle aspiration of the milk is the treatment of choice.	SNOMEDCT:42385006|MESH:C535998|DOID:10686|NCIT:C3515
MONDO:0001098	separation anxiety disorder	biolink:Disease	mondo	SCTID:11806006|EFO:1001916|DOID:10685|NCIT:C35014|MESH:D001010			http://purl.obolibrary.org/obo/MONDO_0001098	An anxiety disorder characterized by recurrent excessive distress due to fear of separation from the home or from major attachment figures; the distress is developmentally inappropriate and causes impairment in social, academic, or other areas of functioning.	DOID:10685|MESH:D001010|SNOMEDCT:11806006|NCIT:C35014
MONDO:0001097	obsolete juvenile glaucoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001097		
MONDO:0001096	mediastinum ganglioneuroblastoma	biolink:Disease	mondo	UMLS:C1334653|DOID:10661|NCIT:C6627		ganglioneuroblastoma of mediastinum|ganglioneuroblastoma (disease) of mediastinum|mediastinum ganglioneuroblastoma (disease)|ganglioneuroblastoma of the mediastinum|mediastinal ganglioneuroblastoma	http://purl.obolibrary.org/obo/MONDO_0001096	A ganglioneuroblastoma arising from the mediastinum.	NCIT:C6627|DOID:10661|UMLS:C1334653
MONDO:0040699	necrotizing scleritis	biolink:Disease	mondo	ICD9:379.09|SCTID:95797003			http://purl.obolibrary.org/obo/MONDO_0040699	A severe form of scleritis with subtypes: necrotising zonal granulomatous inflammation, diffuse non-granulomatous chronic inflammation, mixed pattern of acute purulent inflammation mixed with granulomatous inflammation and sarcoidal pattern.	SNOMEDCT:95797003
MONDO:0013068	age-related hearing impairment 2	biolink:Disease	mondo	UMLS:C2751814|OMIM:612976|MESH:C567834		age-related hearing impairment 2; ARHI2|ARHI2|age-related hearing impairment 2|presbycusis 2	http://purl.obolibrary.org/obo/MONDO_0013068		MESH:C567834|http://identifiers.org/omim/612976|UMLS:C2751814
MONDO:0040698	subacute bursitis	biolink:Disease	mondo	SCTID:109298000|UMLS:C1290159		subacute bursitis	http://purl.obolibrary.org/obo/MONDO_0040698		UMLS:C1290159|SNOMEDCT:109298000
MONDO:0013069	autosomal recessive optic atrophy, OPA7 type	biolink:Disease	mondo	MESH:C567833|ICD10:H47.2|DOID:0111437|UMLS:C2751812|OMIM:612989|Orphanet:227976	ordo_clinical_subtype	optic atrophy 7 with or without auditory neuropathy; OPA7|optic atrophy 7 with or without auditory neuropathy|OPA7	http://purl.obolibrary.org/obo/MONDO_0013069		ORPHA:227976|MESH:C567833|http://identifiers.org/omim/612989|DOID:0111437|UMLS:C2751812
MONDO:0001091	lipoma of colon	biolink:Disease	mondo	UMLS:C0940607|NCIT:C5493|DOID:10655		colon lipoma|lipoma of the colon|lipoma of colon|colonic lipoma	http://purl.obolibrary.org/obo/MONDO_0001091	A benign adipose tissue neoplasm originating in the colon. It is the second most common benign lesion of the colon after benign adenomatous polyps. Older patients are more likely to be affected, and most lesions are located at the right side of large bowel. Colon lipomas may lead to intestinal obstruction.	NCIT:C5493|DOID:10655|UMLS:C0940607
GO:2001200	positive regulation of dendritic cell differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2001200	Any process that activates or increases the frequency, rate or extent of dendritic cell differentiation.	
MONDO:0001090	acute anterolateral myocardial infarction	biolink:Disease	mondo	UMLS:C0155627|DOID:10651|ICD9:410.00|ICD9:410.02|ICD9:410.01|SCTID:70211005|ICD9:410.0		anterolateral myocardial infarction, acute|acute anterolateral myocardial infarction|acute myocardial infarction of anterolateral wall	http://purl.obolibrary.org/obo/MONDO_0001090	Acute form of anterolateral myocardial infarction.	UMLS:C0155627|DOID:10651|SNOMEDCT:70211005
CL:0002554	fibroblast of lymphatic vessel	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002554	A fibroblast of the lymphatic system.	
MONDO:0013062	long QT syndrome 12	biolink:Disease	mondo	DOID:0110653|UMLS:C2751830|ICD10:I45.8|OMIM:612955|MESH:C567842		SNTA1 long QT syndrome|long QT syndrome caused by mutation in SNTA1|long QT syndrome type 12|long QT syndrome 12|long QT syndrome 12; LQT12|LQT12	http://purl.obolibrary.org/obo/MONDO_0013062	Any long QT syndrome in which the cause of the disease is a mutation in the SNTA1 gene.	DOID:0110653|UMLS:C2751830|MESH:C567842|http://identifiers.org/omim/612955
MONDO:0013063	ventricular fibrillation, paroxysmal familial, 2	biolink:Disease	mondo	MESH:C567841|OMIM:612956|UMLS:C2751829		VF2|ventricular fibrillation, paroxysmal familial, 2; VF2|ventricular fibrillation, paroxysmal familial, 2|ventricular fibrillation (disease) caused by mutation in DPP6|DPP6 ventricular fibrillation (disease)|ventricular fibrillation, paroxysmal familial, type 2	http://purl.obolibrary.org/obo/MONDO_0013063	Any ventricular fibrillation in which the cause of the disease is a mutation in the DPP6 gene.	http://identifiers.org/omim/612956|UMLS:C2751829|MESH:C567841
MONDO:0013060	autosomal recessive Parkinson disease 14	biolink:Disease	mondo	UMLS:C2751842|GARD:0012568|DOID:0060900|Orphanet:199351|MESH:C567844|ICD10:G24.1|SCTID:720466001|OMIM:612953	ordo_disease	PLA2G6-related dystonia-parkinsonism|autosomal recessive Parkinson's disease 14|PLA2G6 hereditary late onset Parkinson disease|dystonia-Parkinsonism Adult-onset|Parkinson disease 14, autosomal recessive|dystonia-parkinsonism, Paisan-Ruiz type|hereditary late onset Parkinson disease caused by mutation in PLA2G6|PARK14|autosomal recessive Parkinson disease type 14|adult-onset dystonia - parkinsonism|dystonia-Parkinsonism, adult-onset|Parkinson disease 14, autosomal recessive; PARK14	http://purl.obolibrary.org/obo/MONDO_0013060	Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.	ORPHA:199351|UMLS:C2751842|DOID:0060900|SNOMEDCT:720466001|MESH:C567844|http://identifiers.org/omim/612953
GO:0098857	membrane microdomain	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0098857	A membrane region with a lipid composition that is distinct from that of the membrane regions that surround it.	
MONDO:0013061	myofibrillar myopathy 6	biolink:Disease	mondo	DOID:0080097|OMIM:612954|ICD10:G71.8|Orphanet:199340|MESH:C567843	ordo_disease	BAG3 myofibrillar myopathy (disease)|MFM6|myopathy, myofibrillar, Bag3-related|myopathy, myofibrillar, type 6|myopathy, myofibrillar, 6|myofibrillar myopathy type 6|myopathy, myofibrillar, 6; MFM6|muscular dystrophy, Selcen type|myofibrillar myopathy (disease) caused by mutation in BAG3|BAG3-related myofibrillar myopathy	http://purl.obolibrary.org/obo/MONDO_0013061	Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly.	ORPHA:199340|DOID:0080097|MESH:C567843|http://identifiers.org/omim/612954
MONDO:0013066	46,XY sex reversal 3	biolink:Disease	mondo	DOID:0111772|OMIM:612965		disorder of Sex development, 46,XY, Nr5A1-related|SRXY3|46,XY Sex reversal type 3|46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure|46,XY Sex reversal, partial or complete, Nr5A1-related|Sex reversal, XY, with or without adrenal failure|46,XY sex reversal 3|46,XY SEX reversal 3; SRXY3	http://purl.obolibrary.org/obo/MONDO_0013066		http://identifiers.org/omim/612965|DOID:0111772
MONDO:0013067	cataract 34 multiple types	biolink:Disease	mondo	OMIM:612968|ICD10:Q12.0|UMLS:C2751822|DOID:0110230|MESH:C567835		autosomal recessive congenital cataract 3|cataract 34, multiple types|cataract 34, multiple types; CTRCT34|CATC3|cataract 34, multiple types, with or without microcornea|cataract 34 multiple types with or without microcornea|cataract, autosomal recessive congenital 3|CTRCT34|cataract (disease) caused by mutation in FOXE3|FOXE3 cataract (disease)	http://purl.obolibrary.org/obo/MONDO_0013067	Any cataract (disease) in which the cause of the disease is a mutation in the FOXE3 gene.	MESH:C567835|http://identifiers.org/omim/612968|DOID:0110230|UMLS:C2751822
GO:0098856	intestinal lipid absorption	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0098856	Any process in which lipids are taken up from the contents of the intestine.	
MONDO:0013064	multiple synostoses syndrome 3	biolink:Disease	mondo	OMIM:612961|MESH:C567839|UMLS:C2751826		FGF9 multiple synostoses syndrome|SYNS3|multiple synostoses syndrome type 3|multiple synostoses syndrome caused by mutation in FGF9|multiple synostoses syndrome 3|multiple synostoses syndrome 3; SYNS3	http://purl.obolibrary.org/obo/MONDO_0013064	Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene.	http://identifiers.org/omim/612961|UMLS:C2751826|MESH:C567839
MONDO:0013065	premature ovarian failure 7	biolink:Disease	mondo	UMLS:C2751825|MESH:C567838|OMIM:612964		Pof7|premature ovarian failure 7|premature ovarian failure type 7|NR5A1 primary ovarian failure|adrenal insufficiency, Nr5A1-related|premature ovarian failure 7; Pof7|primary ovarian failure caused by mutation in NR5A1	http://purl.obolibrary.org/obo/MONDO_0013065	Any primary ovarian failure in which the cause of the disease is a mutation in the NR5A1 gene.	http://identifiers.org/omim/612964|UMLS:C2751825|MESH:C567838
MONDO:0001069	obsolete leukodystrophy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001069		
MONDO:0001068	osteomalacia (disease)	biolink:Disease	mondo	GARD:0007285|EFO:1002027|SCTID:4598005|HP:0002749|COHD:432594|MESH:D010018|DOID:10573|NCIT:C26838|ICD9:268.2		osteomalacia	http://purl.obolibrary.org/obo/MONDO_0001068	A metabolic bone disease that results from either a deficiency in vitamin D, or an abnormality in the metabolism of vitamin D, or a deficiency of calcium in the diet. The most common symptoms are bone pain and muscle weakness. When it occurs in children it is commonly referred to as rickets. (Diagnostic Surgical Pathology, 3rd ed.) --2003	SNOMEDCT:4598005|MESH:D010018|NCIT:C26838|DOID:10573
MONDO:0001067	early yaws	biolink:Disease	mondo	UMLS:C0275998|ICD10:A66.0|ICD9:102.6|DOID:10568|ICD9:102.0|NCIT:C41352|ICD9:102.2|ICD10:A66.6|SCTID:23191004		primary frambesia|initial lesions of yaws|initial frambesial ulcer|chancre of yaws|bone and joint yaws lesion|bone and joint lesions due to yaws|frambesia, initial or primary	http://purl.obolibrary.org/obo/MONDO_0001067	Early yaws includes primary and secondary stages of yaws, endemic tropical treponemal nonvenereal infection: development of initial lesion at inoculation site followed by widespread dissemination of treponemes and generalized secondary granulomatous lesions that may relapse repeatedly.	UMLS:C0275998|DOID:10568|NCIT:C41352|SNOMEDCT:23191004
MONDO:0001062	pyloric antrum cancer	biolink:Disease	mondo	SCTID:187740000|DOID:10547|ICD10:C16.3|ICD9:151.2|UMLS:C0153419		pyloric antrum cancer|malignant neoplasm of pyloric antrum|malignant pyloric antrum neoplasm|malignant neoplasm of antrum of stomach NOS|malignant tumor of pyloric antrum|malignant neoplasm of antrum of stomach|cancer of pyloric antrum	http://purl.obolibrary.org/obo/MONDO_0001062	A malignant neoplasm involving the pyloric antrum.	DOID:10547|UMLS:C0153419|SNOMEDCT:187740000
GO:1900015	regulation of cytokine production involved in inflammatory response	biolink:OntologyClass	mondo			regulation of cytokine production involved in acute inflammatory response	http://purl.obolibrary.org/obo/GO_1900015	Any process that modulates the frequency, rate or extent of cytokine production involved in inflammatory response.	
GO:1902679	negative regulation of RNA biosynthetic process	biolink:OntologyClass	mondo			inhibition of RNA biosynthesis|inhibition of RNA biosynthetic process|down-regulation of RNA biosynthetic process|down-regulation of RNA biosynthesis|down regulation of RNA formation|negative regulation of RNA biosynthesis|inhibition of RNA synthesis|downregulation of RNA synthesis|downregulation of RNA formation|inhibition of RNA formation|negative regulation of RNA anabolism|down-regulation of RNA anabolism|downregulation of RNA biosynthetic process|down regulation of RNA anabolism|downregulation of RNA biosynthesis|negative regulation of RNA synthesis|down-regulation of RNA synthesis|down regulation of RNA biosynthesis|negative regulation of RNA formation|down regulation of RNA synthesis|down regulation of RNA biosynthetic process|down-regulation of RNA formation|downregulation of RNA anabolism|inhibition of RNA anabolism	http://purl.obolibrary.org/obo/GO_1902679	Any process that stops, prevents or reduces the frequency, rate or extent of RNA biosynthetic process.	
MONDO:0001061	pylorus cancer	biolink:Disease	mondo	UMLS:C0153418|SCTID:187736009|ICD10:C16.4|DOID:10544|ICD9:151.1		pylorus cancer|malignant pylorus neoplasm|malignant tumor of pylorus|malignant neoplasm of pylorus|malignant neoplasm of pylorus of stomach|malignant neoplasm of Prepylorus|Ca pylorus - stomach|cancer of pylorus	http://purl.obolibrary.org/obo/MONDO_0001061	A malignant neoplasm involving the pylorus.	UMLS:C0153418|DOID:10544|SNOMEDCT:187736009
GO:1900017	positive regulation of cytokine production involved in inflammatory response	biolink:OntologyClass	mondo			up regulation of cytokine production involved in inflammatory response|up regulation of cytokine production involved in acute inflammatory response|positive regulation of cytokine production involved in acute inflammatory response	http://purl.obolibrary.org/obo/GO_1900017	Any process that activates or increases the frequency, rate or extent of cytokine production involved in inflammatory response.	
MONDO:0001060	microinvasive gastric cancer	biolink:Disease	mondo	DOID:10541|NCIT:C27131|UMLS:C0349530|SCTID:276809004		superficial gastric cancer|early gastric cancer|surface gastric cancer|EGC|superficial spreading gastric cancer	http://purl.obolibrary.org/obo/MONDO_0001060	An invasive adenocarcinoma confined to the mucosa or mucosa and submucosa of the gastric wall. The regional lymph nodes may or may not be involved. It usually occurs in the lesser curvature. The 5-year survival rate following resection is between 80 percent and 95 percent, and remains high even when lymph node metastases are present.	SNOMEDCT:276809004|NCIT:C27131|UMLS:C0349530|DOID:10541
MONDO:0025030	digital dermatitis in cattle	biolink:Disease	mondo	MESH:D058066		bovine hairy footwarts|dermatitis, bovine digital|Papillomatoses, digital|wart, bovine foot|digital dermatitis, bovine|digital Dermatitides, bovine|Dermatitides, bovine digital|digital Papillomatoses|bovine digital dermatitis|bovine foot wart|bovine digital Dermatitides|digital Dermatitides, papillomatous|Ovine digital dermatitis|Ovine digital Dermatitides|digital dermatitis, papillomatous|digital papillomatosis|Dermatitides, digital|foot Warts, bovine|dermatitis, digital|hairy footwart, bovine|bovine foot Warts|Warts, bovine foot|bovine hairy footwart|footwart, bovine hairy|papillomatosis, digital|digital Dermatitides|footwarts, bovine hairy|hairy footwarts, bovine|papillomatous digital dermatitis|digital Dermatitides, Ovine|digital dermatitis, Ovine|foot wart, bovine|papillomatous digital Dermatitides	http://purl.obolibrary.org/obo/MONDO_0025030	Highly contagious infectious dermatitis with lesions near the interdigital spaces usually in cattle. It causes discomfort and often severe lameness (lameness, animal). Lesions can be either erosive or proliferative and wart-like with papillary growths and hypertrophied hairs. dichelobacter nodosus and treponema are the most commonly associated causative agents for this mixed bacterial infection disease.	MESH:D058066
GO:1900016	negative regulation of cytokine production involved in inflammatory response	biolink:OntologyClass	mondo			negative regulation of cytokine production involved in acute inflammatory response|down regulation of cytokine production involved in inflammatory response|down regulation of cytokine production involved in acute inflammatory response	http://purl.obolibrary.org/obo/GO_1900016	Any process that stops, prevents or reduces the frequency, rate or extent of cytokine production involved in inflammatory response.	
MONDO:0001066	late yaws	biolink:Disease	mondo	ICD10:A66.1|ICD9:102.4|DOID:10567|UMLS:C0276007|ICD9:102.1|SCTID:186968004|NCIT:C41354|UMLS:C1517744|ICD10:A66.4		multiple papillomata due to yaws and wet crab yaws|yaws gummata and ulcers|gummata of yaws|ulcers of yaws|gummatous frambeside|gummata and ulcers due to yaws|nodular late yaws	http://purl.obolibrary.org/obo/MONDO_0001066	Late yaws is the tertiary, non-contagious stage of yaws, endemic tropical treponemal nonvenereal infection. Late yaws is characterized by destructive and deforming lesions of the skin, bones, and joints.	UMLS:C0276007|SNOMEDCT:186968004|DOID:10567|UMLS:C1517744|NCIT:C41354
MONDO:0001065	supine hypotensive syndrome	biolink:Disease	mondo	HP:0008071|ICD9:669.20|SCTID:88887003|DOID:10556		maternal hypotension syndrome|postpartum maternal hypotension syndrome|antepartum maternal hypotension syndrome	http://purl.obolibrary.org/obo/MONDO_0001065	A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus.	SNOMEDCT:88887003|DOID:10556
MONDO:0001064	acute eustachian salpingitis	biolink:Disease	mondo	ICD9:381.51|ICD10:H68.01|ICD10:H68.019|UMLS:C0155429|SCTID:194268005|DOID:10550		acute eustachian tube salpingitis|acute otosalpingitis|otosalpingitis, acute	http://purl.obolibrary.org/obo/MONDO_0001064	Acute form of otosalpingitis.	UMLS:C0155429|DOID:10550|SNOMEDCT:194268005
MONDO:0027694	amyotrophic lateral sclerosis type 23	biolink:Disease	mondo	UMLS:CN778765|OMIM:617839|DOID:0080225		ALS23|amyotrophic lateral sclerosis 23|amyotrophic lateral sclerosis 23; ALS23	http://purl.obolibrary.org/obo/MONDO_0027694		UMLS:CN778765|http://identifiers.org/omim/617839|DOID:0080225
MONDO:0001063	cardia cancer	biolink:Disease	mondo	DOID:10548|SCTID:187732006|ICD10:C16.0|ICD9:151.0|UMLS:C0153417		cardia of stomach cancer|malignant neoplasm of cardia of stomach|malignant cardia of stomach neoplasm|Ca cardia - stomach|cancer of cardia of stomach	http://purl.obolibrary.org/obo/MONDO_0001063	A malignant neoplasm involving the cardia of stomach.	SNOMEDCT:187732006|UMLS:C0153417|DOID:10548
MONDO:0013059	Aicardi-Goutieres syndrome 5	biolink:Disease	mondo	NCIT:C168564|OMIM:612952|GARD:0010151|MESH:C535608		AGS5|Aicardi-Goutieres syndrome caused by mutation in SAMHD1|Aicardi-Goutieres syndrome type 5|Aicardi-Goutieres syndrome 5|SAMHD1-related Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome 5; AGS5|SAMHD1 Aicardi-Goutieres syndrome	http://purl.obolibrary.org/obo/MONDO_0013059	Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the SAMHD1 gene.	http://identifiers.org/omim/612952|MESH:C535608|NCIT:C168564
GO:0060255	regulation of macromolecule metabolic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060255	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass.	
MONDO:0013057	PSORS12	biolink:Disease	mondo	DOID:0111291|OMIM:612950		psoriasis 12, susceptibility to|PSORS12|psoriasis 12, susceptibility to; PSORS12	http://purl.obolibrary.org/obo/MONDO_0013057		http://identifiers.org/omim/612950|DOID:0111291
GO:1902680	positive regulation of RNA biosynthetic process	biolink:OntologyClass	mondo			up regulation of RNA synthesis|positive regulation of RNA biosynthesis|up-regulation of RNA formation|upregulation of RNA anabolism|positive regulation of RNA synthesis|up regulation of RNA biosynthesis|activation of RNA synthesis|up regulation of RNA biosynthetic process|up regulation of RNA formation|up-regulation of RNA biosynthesis|positive regulation of RNA formation|up-regulation of RNA biosynthetic process|activation of RNA formation|upregulation of RNA synthesis|activation of RNA biosynthetic process|activation of RNA biosynthesis|upregulation of RNA formation|up-regulation of RNA anabolism|upregulation of RNA biosynthesis|up regulation of RNA anabolism|upregulation of RNA biosynthetic process|up-regulation of RNA synthesis|positive regulation of RNA anabolism|activation of RNA anabolism	http://purl.obolibrary.org/obo/GO_1902680	Any process that activates or increases the frequency, rate or extent of RNA biosynthetic process.	
MONDO:0013058	cystic leukoencephalopathy without megalencephaly	biolink:Disease	mondo	OMIM:612951|SCTID:720825005|UMLS:C2751843|ICD10:E75.2|Orphanet:85136|GARD:0013199|MESH:C567845	ordo_disease	CLWM|leukoencephalopathy, cystic, without megalencephaly|RNAse T2-deficient leukoencephalopathy	http://purl.obolibrary.org/obo/MONDO_0013058	Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.	ORPHA:85136|MESH:C567845|http://identifiers.org/omim/612951|SNOMEDCT:720825005|UMLS:C2751843
GO:2001212	regulation of vasculogenesis	biolink:OntologyClass	mondo			regulation of vascular morphogenesis	http://purl.obolibrary.org/obo/GO_2001212	Any process that modulates the frequency, rate or extent of vasculogenesis.	
GO:0060259	regulation of feeding behavior	biolink:OntologyClass	mondo			regulation of feeding behaviour	http://purl.obolibrary.org/obo/GO_0060259	Any process that modulates the rate, frequency or extent of the behavior associated with the intake of food.	
GO:2001213	negative regulation of vasculogenesis	biolink:OntologyClass	mondo			negative regulation of vascular morphogenesis	http://purl.obolibrary.org/obo/GO_2001213	Any process that stops, prevents or reduces the frequency, rate or extent of vasculogenesis.	
GO:2001214	positive regulation of vasculogenesis	biolink:OntologyClass	mondo			positive regulation of vascular morphogenesis	http://purl.obolibrary.org/obo/GO_2001214	Any process that activates or increases the frequency, rate or extent of vasculogenesis.	
MONDO:0013051	autosomal recessive cutis laxa type 2B	biolink:Disease	mondo	ICD10:Q82.8|Orphanet:357064|GARD:0001641|OMIM:612940|ICD10CM:Q82.8|DOID:0070137|MESH:C567855|UMLS:C2751987	ordo_disease|gard_rare	cutis laxa, autosomal recessive, type IIB; ARCL2B|cutis laxa, autosomal recessive, type 2B|autosomal recessive cutis laxa type IIB|PYCR1 autosomal recessive cutis laxa type 2|cutis laxa with progeroid features|cutis laxa, autosomal recessive, type IIB|autosomal recessive cutis laxa type 2, progeroid type|autosomal recessive cutis laxa type 2 caused by mutation in PYCR1|ARCL2, progeroid type|cutis laxa, autosomal recessive type 2B|ARCL2B	http://purl.obolibrary.org/obo/MONDO_0013051	Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.	ORPHA:357064|MESH:C567855|http://identifiers.org/omim/612940|UMLS:C2751987|DOID:0070137
MONDO:0013052	retinitis pigmentosa 42	biolink:Disease	mondo	MESH:C567854|OMIM:612943|ICD10:H35.5|UMLS:C2751986|DOID:0110386		KLHL7 retinitis pigmentosa|retinitis pigmentosa caused by mutation in KLHL7|RP42|retinitis pigmentosa 42; RP42|retinitis pigmentosa 42|retinitis pigmentosa type 42	http://purl.obolibrary.org/obo/MONDO_0013052	Any retinitis pigmentosa in which the cause of the disease is a mutation in the KLHL7 gene.	MESH:C567854|http://identifiers.org/omim/612943|DOID:0110386|UMLS:C2751986
MONDO:0013050	lethal polymalformative syndrome, Boissel type	biolink:Disease	mondo	Orphanet:210144|OMIM:612938|ICD10:Q87.8|MESH:C567856	ordo_malformation_syndrome	growth retardation, developmental delay, and facial dysmorphism; GDFD|GDFD|growth retardation, developmental delay, and facial dysmorphism	http://purl.obolibrary.org/obo/MONDO_0013050		http://identifiers.org/omim/612938|ORPHA:210144|MESH:C567856
MONDO:0013055	Stargardt macular degeneration, absent or hypoplastic corpus callosum, mental retardation, and dysmorphic features	biolink:Disease	mondo	GARD:0010683|OMIM:612948|MESH:C548086|UMLS:C2751864	gard_rare	Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features|Stargardt macular degeneration absent or hypoplastic corpus callosum intellectual disability and dysmorphic features|Stargardt macular degeneration, absent or hypoplastic corpus callosum, mental retardation, and dysmorphic features|Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features	http://purl.obolibrary.org/obo/MONDO_0013055		http://identifiers.org/omim/612948|MESH:C548086|UMLS:C2751864
MONDO:0013056	developmental and epileptic encephalopathy, 39	biolink:Disease	mondo	Orphanet:353217|ICD10:G31.8|UMLS:C4512050|OMIM:612949|DOID:0080349|UMLS:C2751855|SCTID:726702005|MESH:C567847	ordo_disease	DEE39|EIEE39|mitochondrial aspartate-glutamate carrier 1 deficiency|aspartate-glutamate carrier 1 deficiency|AGC1 deficiency|SLC25A12 early infantile epileptic encephalopathy|hypomyelination, global cerebral|epileptic encephalopathy, early infantile, 39|epileptic encephalopathy, early infantile, 39; EIEE39|epileptic encephalopathy with global cerebral demyelination|early infantile epileptic encephalopathy caused by mutation in SLC25A12	http://purl.obolibrary.org/obo/MONDO_0013056	Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.	DOID:0080349|MESH:C567847|http://identifiers.org/omim/612949|SNOMEDCT:726702005|UMLS:C4512050|UMLS:C2751855|ORPHA:353217
MONDO:0013053	microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type	biolink:Disease	mondo	SCTID:719395001|MESH:C567850|Orphanet:217026|OMIM:612946|UMLS:C2751878|ICD10:Q87.8	ordo_malformation_syndrome	microcephaly-faciocardioskeletal syndrome|Hadziselimovic syndrome	http://purl.obolibrary.org/obo/MONDO_0013053	Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.	MESH:C567850|SNOMEDCT:719395001|http://identifiers.org/omim/612946|UMLS:C2751878|ORPHA:217026
MONDO:0013054	microcephaly, growth retardation, cataract, hearing loss, and unusual appearance	biolink:Disease	mondo	UMLS:C2751870|OMIM:612947|MESH:C567849		microcephaly, growth retardation, cataract, hearing loss, and unusual appearance	http://purl.obolibrary.org/obo/MONDO_0013054		MESH:C567849|http://identifiers.org/omim/612947|UMLS:C2751870
MONDO:0001079	pancreatic steatorrhea	biolink:Disease	mondo	SCTID:54576000|ICD10:K90.3|COHD:200146|DOID:10610|UMLS:C0152166|ICD9:579.4		pancreatic steatorrhoea	http://purl.obolibrary.org/obo/MONDO_0001079		SNOMEDCT:54576000|UMLS:C0152166|DOID:10610
MONDO:0025028	vesicular stomatitis	biolink:Disease	mondo	SCTID:36921006|MESH:D054243|UMLS:C0266999		vesicular Stomatitides|Stomatitides, vesicular|stomatitis, vesicular	http://purl.obolibrary.org/obo/MONDO_0025028	A viral disease caused by at least two distinct species (serotypes) in the vesiculovirus genus: vesicular stomatitis indiana virus and vesicular stomatitis new jersey virus. It is characterized by vesicular eruptions on the oral mucosa in cattle, horses, pigs, and other animals. In humans, vesicular stomatitis causes an acute influenza-like illness.	MESH:D054243|UMLS:C0266999|SNOMEDCT:36921006
MONDO:0001078	tropical sprue	biolink:Disease	mondo	GARD:0007824|ICD9:579.1|ICD10:K90.1|UMLS:C0038054|SCTID:47384003|COHD:193521|DOID:10607|NCIT:C45428|MESH:D013182	gard_rare	tropical steatorrhea|idiopathic tropical malabsorption syndrome|sprue - tropical|tropical enteropathy|post-infective tropical malabsorption	http://purl.obolibrary.org/obo/MONDO_0001078	A rare disorder of the digestive tract characterized by malabsorption and anemia. It is likely caused by infection leading to small intestinal mucosal injury, bacterial overgrowth and inflammatory changes. It is most prevalent in residents and visitors to tropical and subtropical climates. Clinical signs include anorexia, abdominal bloating, diarrhea and weight loss. Clinical course may progress to deficiencies of folate, vitamin B12 and iron. Prognosis is favorable with nutrient replacement and antibiotic therapy, however relapses are common.	MESH:D013182|NCIT:C45428|DOID:10607|SNOMEDCT:47384003|UMLS:C0038054
MONDO:0001073	idiopathic progressive polyneuropathy	biolink:Disease	mondo	SCTID:33209009|COHD:380394|ICD9:356.4|UMLS:C0154756|DOID:10593			http://purl.obolibrary.org/obo/MONDO_0001073		UMLS:C0154756|DOID:10593|SNOMEDCT:33209009
GO:2001226	negative regulation of chloride transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2001226	Any process that stops, prevents or reduces the frequency, rate or extent of chloride transport.	
MONDO:0001072	mild pre-eclampsia	biolink:Disease	mondo	ICD9:642.44|ICD9:642.43|ICD9:642.42|COHD:314090|ICD9:642.41|ICD9:642.40|SCTID:41114007|DOID:10590			http://purl.obolibrary.org/obo/MONDO_0001072	A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation.	SNOMEDCT:41114007|DOID:10590
MONDO:0001071	intellectual disability	biolink:Disease	mondo	EFO:0003847|MESH:D008607|SCTID:91138005|GARD:0011963|ICD10:F70.F79|DOID:1059|ICD9:319|NCIT:C97250		mental retardation|intellectual disabilities	http://purl.obolibrary.org/obo/MONDO_0001071	A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group.	MESH:D008607|DOID:1059|NCIT:C97250|SNOMEDCT:91138005
MONDO:0001070	obsolete adrenoleukodystrophy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001070		
MONDO:0001077	obsolete short bowel syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001077		
MONDO:0001076	glucose intolerance	biolink:Disease	mondo	ICD9:271.3|DOID:10603|NCIT:C34646|UMLS:C0271650|SCTID:267426009|ICD10:R73.09|MESH:D018149		glucose: intolerance|glucose: malabsorption|malabsorption of glucose|glucose: [intolerance] or [malabsorption]	http://purl.obolibrary.org/obo/MONDO_0001076	The inability to regulate blood glucose levels resulting in hyperglycemia.	NCIT:C34646|MESH:D018149|SNOMEDCT:267426009|DOID:10603|UMLS:C0271650
MONDO:0001075	steatorrhea (disease)	biolink:Disease	mondo	DOID:10602|MESH:D045602|NCIT:C86917|SCTID:27868004|HP:0002570		fatty stool (finding)|fatty stool|steatorrhea	http://purl.obolibrary.org/obo/MONDO_0001075	A finding of an excessive amount of fat in the stool.	SNOMEDCT:27868004|NCIT:C86917|DOID:10602|MESH:D045602
MONDO:0001074	chronic tic disorder	biolink:Disease	mondo	ICD10:F95.1|ICD9:307.22|DOID:10600|NCIT:C116768		chronic motor or vocal tic disorder|tic disorder, chronic	http://purl.obolibrary.org/obo/MONDO_0001074	A neurological disorder presenting in childhood that is characterized by either motor or phonic tics, but not both, that occur daily or nearly daily for at least a year and are not attributed to an identifiable cause.	NCIT:C116768|DOID:10600
MONDO:0013048	hereditary spastic paraplegia 50	biolink:Disease	mondo	MESH:C567858|DOID:0110802|OMIM:612936|UMLS:C2752008		hereditary spastic paraplegia type 50|cerebral palsy, spastic quadriplegic, 3, formerly|SPG50|AP4M1 hereditary spastic paraplegia|cerebral palsy, spastic quadriplegic, 3|spastic paraplegia 50, autosomal recessive|autosomal recessive spastic paraplegia 50|hereditary spastic paraplegia caused by mutation in AP4M1|CPSQ3|spastic quadriplegic cerebral palsy 3|spastic paraplegia 50, autosomal recessive; SPG50	http://purl.obolibrary.org/obo/MONDO_0013048	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4M1 gene.	MESH:C567858|http://identifiers.org/omim/612936|UMLS:C2752008|DOID:0110802
MONDO:0013049	DPM3-CDG	biolink:Disease	mondo	GARD:0012395|MESH:C567857|ICD10:E77.8|UMLS:C2752007|Orphanet:263494|OMIM:612937|SCTID:725044000	ordo_disease	DPM3-CDG (CDG-Io)|DG1O|CDG syndrome type Io|congenital disorder of glycosylation type Io|congenital disorder of glycosylation, type Io; CDG1O|CDG Io|congenital disorder of glycosylation type 1o|CDG-Io|carbohydrate deficient glycoprotein syndrome type Io|CDGIo|Cdg1(Dpm3)|CDG1O|congenital disorder of glycosylation, type Io	http://purl.obolibrary.org/obo/MONDO_0013049	DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy.	MESH:C567857|UMLS:C2752007|http://identifiers.org/omim/612937|SNOMEDCT:725044000|ORPHA:263494
MONDO:0013046	glycogen storage disease due to muscle beta-enolase deficiency	biolink:Disease	mondo	UMLS:C2752027|ICD10:E74.0|MESH:C567861|Orphanet:99849|GARD:0002125|OMIM:612932	ordo_disease	GSD13|muscular enolase deficiency|GSD due to muscle beta-enolase deficiency|muscle enolase deficiency|glycogen storage disease XIII; GSD13|GSD 13|glycogenosis type 13|glycogen storage disease 13|enolase 3 deficiency|enolase-Beta deficiency|GSDXIII|glycogen storage disease type 13|glycogenosis due to muscle beta-enolase deficiency|glycogen storage disease XIII	http://purl.obolibrary.org/obo/MONDO_0013046	Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.	MESH:C567861|ORPHA:99849|http://identifiers.org/omim/612932|UMLS:C2752027
MONDO:0013047	glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	biolink:Disease	mondo	GARD:0003160|HGNC:6535|Orphanet:284426|ICD10:E74.0|OMIM:612933|SCTID:237982007|MESH:C538133|ICD9:271.8	gard_rare|ordo_clinical_subtype	lactate dehydrogenase deficiency type A|glycogenosis due to lactate dehydrogenase M-subunit deficiency|lactate dehydrogenase A deficiency|glycogen storage disease XI; GSD11|LDHA glycogen storage disease|glycogen storage disease caused by mutation in LDHA|GSD11|GSD 11|glycogenosis type 11|GSD due to lactate dehydrogenase M-subunit deficiency|glycogen storage disease XI|glycogen storage disease type 11|LDH-M subunit deficiency|GSD type 11|GSD XI	http://purl.obolibrary.org/obo/MONDO_0013047	A condition that affects how the body breaks down sugar to use as energy in muscle cells. People withthis conditionexperience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people,high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. A skin rash may also develop. The severity of the signs and symptoms varies greatly among affected individuals. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. This condition is inherited in an autosomal recessive pattern.	MESH:C538133|SNOMEDCT:237982007|ORPHA:284426|http://identifiers.org/omim/612933
GO:0035235	ionotropic glutamate receptor signaling pathway	biolink:OntologyClass	mondo			ionotropic glutamate receptor signalling pathway	http://purl.obolibrary.org/obo/GO_0035235	A series of molecular signals initiated by glutamate binding to a glutamate receptor on the surface of the target cell, followed by the movement of ions through a channel in the receptor complex. Ends with regulation of a downstream cellular process, e.g. transcription.	
GO:2001222	regulation of neuron migration	biolink:OntologyClass	mondo			regulation of neuronal migration|regulation of neuron guidance|regulation of neuron chemotaxis	http://purl.obolibrary.org/obo/GO_2001222	Any process that modulates the frequency, rate or extent of neuron migration.	
GO:2001223	negative regulation of neuron migration	biolink:OntologyClass	mondo			negative regulation of neuron chemotaxis|negative regulation of neuron guidance|negative regulation of neuronal migration	http://purl.obolibrary.org/obo/GO_2001223	Any process that stops, prevents or reduces the frequency, rate or extent of neuron migration.	
GO:2001224	positive regulation of neuron migration	biolink:OntologyClass	mondo			positive regulation of neuron guidance|positive regulation of neuron chemotaxis|positive regulation of neuronal migration	http://purl.obolibrary.org/obo/GO_2001224	Any process that activates or increases the frequency, rate or extent of neuron migration.	
GO:0060249	anatomical structure homeostasis	biolink:OntologyClass	mondo			anatomical structure maintenance	http://purl.obolibrary.org/obo/GO_0060249	A homeostatic process involved in the maintenance of an internal steady state within a defined anatomical structure of an organism, including control of cellular proliferation and death and control of metabolic function. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome.	
GO:0035239	tube morphogenesis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0035239	The process in which the anatomical structures of a tube are generated and organized. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system.	
GO:2001225	regulation of chloride transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_2001225	Any process that modulates the frequency, rate or extent of chloride transport.	
MONDO:0013040	atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	biolink:Disease	mondo	ICD10:D58.8|OMIM:612922|Orphanet:93576	predisposition|ordo_etiological_subtype	hemolytic uremic syndrome, atypical, susceptibility to, 2; AHUS2|hemolytic uremic syndrome, atypical, susceptibility to, type 2|D-HUS with MCP/CD46 anomaly|AHUS, susceptibility to, 2|aHUS2|hemolytic-uremic syndrome without diarrhea with MCP/CD46 anomaly|susceptibility to atypical hemolytic uremic syndrome 2|hemolytic uremic syndrome, atypical, susceptibility to, 2|aHUS with MCP/CD46 anomaly|atypical HUS with MCP/CD46 anomaly	http://purl.obolibrary.org/obo/MONDO_0013040		http://identifiers.org/omim/612922|ORPHA:93576
MONDO:0013041	atypical hemolytic-uremic syndrome with I factor anomaly	biolink:Disease	mondo	Orphanet:93580|OMIM:612923|ICD10:D58.8	predisposition|ordo_etiological_subtype	D-HUS with I factor anomaly|hemolytic uremic syndrome, atypical, susceptibility to, 3; AHUS3|hemolytic uremic syndrome, atypical, susceptibility to, type 3|hemolytic-uremic syndrome without diarrhea with I factor anomaly|atypical HUS with I factor anomaly|aHUS3|aHUS with I factor anomaly|aHUS, susceptibility to, 3|susceptibility to atypical hemolytic uremic syndrome 3|hemolytic uremic syndrome, atypical, susceptibility to, 3	http://purl.obolibrary.org/obo/MONDO_0013041		http://identifiers.org/omim/612923|ORPHA:93580
MONDO:0013044	atypical hemolytic-uremic syndrome with thrombomodulin anomaly	biolink:Disease	mondo	OMIM:612926|ICD10:D58.8|Orphanet:217023	predisposition|ordo_etiological_subtype	hemolytic-uremic syndrome without diarrhea with thrombomodulin anomaly|AHUS6|hemolytic uremic syndrome, atypical, susceptibility to, type 6|hemolytic uremic syndrome, atypical, susceptibility to, 6; AHUS6|atypical HUS with thrombomodulin anomaly|aHUS with thrombomodulin anomaly|Ahus, susceptibility to, 6|susceptibility to atypical hemolytic uremic syndrome 6|hemolytic uremic syndrome, atypical, susceptibility to, 6|D-HUS with thrombomodulin anomaly	http://purl.obolibrary.org/obo/MONDO_0013044		http://identifiers.org/omim/612926|ORPHA:217023
MONDO:0013045	mycobacterium tuberculosis, susceptibility to, 3	biolink:Disease	mondo	OMIM:612929	predisposition	Mycobacterium tuberculosis, susceptibility to, type 3|mycobacterium tuberculosis, susceptibility to, 3|MTBS3	http://purl.obolibrary.org/obo/MONDO_0013045		http://identifiers.org/omim/612929
MONDO:0013042	atypical hemolytic-uremic syndrome with B factor anomaly	biolink:Disease	mondo	ICD10:D58.8|OMIM:612924|Orphanet:93578	predisposition|ordo_etiological_subtype	D-HUS with B factor anomaly|hemolytic uremic syndrome, atypical, susceptibility to, type 4|hemolytic uremic syndrome, atypical, susceptibility to, 4; AHUS4|hemolytic-uremic syndrome without diarrhea with B factor anomaly|aHUS, susceptibility to, 4|aHUS4|atypical HUS with B factor anomaly|susceptibility to atypical hemolytic uremic syndrome 4|aHUS with B factor anomaly|hemolytic uremic syndrome, atypical, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0013042		http://identifiers.org/omim/612924|ORPHA:93578
MONDO:0013043	atypical hemolytic-uremic syndrome with C3 anomaly	biolink:Disease	mondo	ICD10:D58.8|Orphanet:93575|OMIM:612925	predisposition|ordo_etiological_subtype	hemolytic-uremic syndrome without diarrhea with C3 anomaly|hemolytic uremic syndrome, atypical, susceptibility to, type 5|hemolytic uremic syndrome, atypical, susceptibility to, 5; AHUS5|aHUS with C3 anomaly|atypical HUS with C3 anomaly|AHUS5|Ahus, susceptibility to, 5|susceptibility to atypical hemolytic uremic syndrome 5|hemolytic uremic syndrome, atypical, susceptibility to, 5|D-HUS with C3 anomaly	http://purl.obolibrary.org/obo/MONDO_0013043		http://identifiers.org/omim/612925|ORPHA:93575
UBERON:0036291	myocardium of anterior wall of right ventricle	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0036291		
ENVO:01000755	aeroform	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000755	A part of an astronomical body which is primarily composed of a continuous volume of gaseous or aerosolised material held in shape by one or more environmental processes.	
UBERON:0036290	myocardium of anterior wall of left ventricle	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0036290		
UBERON:0036295	renal pelvis/ureter	biolink:AnatomicalEntity	mondo			renal pelvis and ureter|renal pelvis plus ureter	http://purl.obolibrary.org/obo/UBERON_0036295	The upper tract of the renal system. The renal pelvis is the large cavity in the middle of each kidney. Urine drains from each kidney through a long tube called the ureter, into the bladder, where it is stored until it is passed from the body through the urethra.	
UBERON:0036294	mucosa of lip	biolink:AnatomicalEntity	mondo			labial mucosa	http://purl.obolibrary.org/obo/UBERON_0036294	A mucosa that is part of a lip region [Automatically generated definition].	
ENVO:01000752	area of barren land	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000752	An area of a planet's surface which is primarily composed of bedrock, desert pavement, scarp rock, talus, material exposed by slides, volcanic material, glacial debris, sand, material exposed during strip mining, gravel, and other accumulations of earthen material in contact with an atmospheric column extending from the planetary boundary layer to the planet's exosphere with little to no physical obstruction.	
GO:0047291	lactosylceramide alpha-2,3-sialyltransferase activity	biolink:OntologyClass	mondo			GM3 synthetase activity|CMP-N-acetylneuraminate:lactosylceramide alpha-2,3-N-acetylneuraminyltransferase activity|CMP-sialic acid:lactosylceramide-sialyltransferase activity|cytidine monophosphoacetylneuraminate-lactosylceramide sialyltransferase|ganglioside GM3 synthase activity|cytidine monophosphoacetylneuraminate-lactosylceramide alpha2,3- sialyltransferase activity|ganglioside GM3 synthetase activity|CMP-acetylneuraminic acid:lactosylceramide sialyltransferase activity|SAT 1|CMP-acetylneuraminate-lactosylceramide-sialyltransferase|GM3 synthase activity	http://purl.obolibrary.org/obo/GO_0047291	Catalysis of the reaction: cytolipin-H + CMP-N-acetylneuraminate = alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1,4-beta-D-glucosylceramide + CMP. Alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1,4-beta-D-glucosylceramide is also known as GM3.	
GO:0035229	positive regulation of glutamate-cysteine ligase activity	biolink:OntologyClass	mondo			upregulation of glutamate-cysteine ligase activity|up regulation of glutamate-cysteine ligase activity|stimulation of glutamate-cysteine ligase activity|up-regulation of glutamate-cysteine ligase activity|activation of glutamate-cysteine ligase activity	http://purl.obolibrary.org/obo/GO_0035229	Any process that activates or increases the activity of glutamate-cysteine ligase, typically by lowering its sensitivity to inhibition by glutathione and by increasing its affinity for glutamate.	
MONDO:0025095	malaria, avian	biolink:Disease	mondo	UMLS:C0024533|MESH:D008289		Malarias, Avian|Avian malaria|Avian Malarias	http://purl.obolibrary.org/obo/MONDO_0025095	Any of a group of infections of fowl caused by protozoa of the genera plasmodium, Leucocytozoon, and Haemoproteus. The life cycles of these parasites and the disease produced bears strong resemblance to those observed in human malaria.	MESH:D008289|UMLS:C0024533
MONDO:0025096	malignant catarrh	biolink:Disease	mondo	SCTID:24043009|MESH:D008304|UMLS:C0276241		fever, malignant catarrhal|catarrhal fever, malignant|catarrh, malignant|malignant catarrhal fever|malignant catarrhal fevers|malignant Catarrhs|Catarrhs, malignant|fevers, malignant catarrhal|catarrhal fevers, malignant	http://purl.obolibrary.org/obo/MONDO_0025096	A herpesvirus infection of cattle characterized by catarrhal inflammation of the upper respiratory and alimentary epithelia, keratoconjunctivitis, encephalitis and lymph node enlargement. Syn: bovine epitheliosis, snotsiekte.	SNOMEDCT:24043009|MESH:D008304|UMLS:C0276241
GO:0060271	cilium assembly	biolink:OntologyClass	mondo			cilium morphogenesis|cilium organization|cilium biogenesis|microtubule-based flagellum assembly|cilium formation|ciliogenesis|cilium assembly	http://purl.obolibrary.org/obo/GO_0060271	The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole.	
CL:0002507	langerin-positive lymph node dendritic cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002507	A dermal dendritic cell isolated from skin draining lymph nodes that is langerin-positive, MHC-II-positive, and CD4-negative and CD8a-negative.	
GO:0035227	regulation of glutamate-cysteine ligase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0035227	Any process that modulates the activity of glutamate-cysteine ligase.	
GO:0035228	negative regulation of glutamate-cysteine ligase activity	biolink:OntologyClass	mondo			inhibition of glutamate-cysteine ligase activity|down-regulation of glutamate-cysteine ligase activity|downregulation of glutamate-cysteine ligase activity|down regulation of glutamate-cysteine ligase activity	http://purl.obolibrary.org/obo/GO_0035228	Any process that stops or reduces the activity of the enzyme glutamate-cysteine ligase.	
MONDO:0037002	benign phyllodes tumor	biolink:Disease	mondo	NCIT:C4274|ICDO:9020/0		benign phyllodes tumor|phyllodes tumor, benign|benign phyllodes neoplasm|benign cystosarcoma phyllodes	http://purl.obolibrary.org/obo/MONDO_0037002	A benign, circumscribed fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It is characterized by the presence of epithelial structures which are arranged in clefts and by a hypercellular mesenchymal stroma which is organized in leaf-like structures. There is no evidence of cellular atypia or sarcomatous features.	NCIT:C4274
MONDO:0037003	malignant phyllodes tumor	biolink:Disease	mondo	NCIT:C4275|ICDO:9020/3		phyllodes tumor, malignant|malignant phyllodes neoplasm|malignant phyllodes tumor|malignant cystosarcoma phyllodes	http://purl.obolibrary.org/obo/MONDO_0037003	A phyllodes tumor with sarcomatous stroma. The sarcomatous component is usually of the fibrosarcomatous type. Liposarcomatous, chondrosarcomatous, osteosarcomatous, or rhabdomyosarcomatous differentiation may also occur in the stroma. It may recur and metastasize following surgical resection. The lung and skeleton are the anatomic sites most frequently involved by metastases.	NCIT:C4275
ENVO:01000743	land consumption process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000743	A process in which natural ecosystems present over an expanse of land are removed and replaced with anthropogenic ecosystems.	
GO:1900048	positive regulation of hemostasis	biolink:OntologyClass	mondo			up-regulation of hemostasis|activation of hemostasis|upregulation of hemostasis|up regulation of hemostasis	http://purl.obolibrary.org/obo/GO_1900048	Any process that activates or increases the frequency, rate or extent of hemostasis.	
GO:1900047	negative regulation of hemostasis	biolink:OntologyClass	mondo			downregulation of hemostasis|down regulation of hemostasis|inhibition of hemostasis|down-regulation of hemostasis	http://purl.obolibrary.org/obo/GO_1900047	Any process that stops, prevents or reduces the frequency, rate or extent of hemostasis.	
MONDO:0025086	hip dysplasia, canine	biolink:Disease	mondo	MESH:D006619|UMLS:C0019556		dysplasia, canine hip|canine hip dysplasia	http://purl.obolibrary.org/obo/MONDO_0025086	A hereditary disease of the hip joints in dogs. Signs of the disease may be evident any time after 4 weeks of age.	MESH:D006619|UMLS:C0019556
MONDO:0025085	hepatitis, viral, animal	biolink:Disease	mondo	MESH:D006524			http://purl.obolibrary.org/obo/MONDO_0025085	Inflammation of the liver in animals due to viral infection.	MESH:D006524
MONDO:0025087	classical swine fever	biolink:Disease	mondo	MESH:D006691|UMLS:C0019841		cholera, Hog|swine fever, classical|Hog cholera|swine fever	http://purl.obolibrary.org/obo/MONDO_0025087	An acute, highly contagious disease affecting swine of all ages and caused by the classical swine fever virus. It has a sudden onset with high morbidity and mortality.	MESH:D006691|UMLS:C0019841
GO:1900046	regulation of hemostasis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1900046	Any process that modulates the frequency, rate or extent of hemostasis.	
MONDO:0025089	infectious bovine rhinotracheitis	biolink:Disease	mondo	MESH:D007241|UMLS:C0021334		bovine Rhinotracheitis, infectious|bovine Rhinotracheitides, infectious|Rhinotracheitides, infectious bovine|Rhinotracheitis, infectious bovine|infectious bovine Rhinotracheitides	http://purl.obolibrary.org/obo/MONDO_0025089	A herpesvirus infection of cattle characterized by inflammation and necrosis of the mucous membranes of the upper respiratory tract.	UMLS:C0021334|MESH:D007241
MONDO:0040654	autosomal dominant oculocutaneous albinism	biolink:Disease	mondo	SCTID:79417003		oculocutaneous albinism, autosomal dominant|autosomal dominant oculocutaneous albinism	http://purl.obolibrary.org/obo/MONDO_0040654	Autosomal dominant form of oculocutaneous albinism.	SNOMEDCT:79417003
MONDO:0040653	autosomal recessive ocular albinism	biolink:Disease	mondo	SCTID:78921008		AROA|autosomal recessive ocular albinism|ocular albinism (disease), autosomal recessive|autosomal recessive ocular albinism (disease)	http://purl.obolibrary.org/obo/MONDO_0040653	Autosomal recessive form of ocular albinism (disease).	SNOMEDCT:78921008
MONDO:0025082	helminthiasis, animal	biolink:Disease	mondo	MESH:D006374|UMLS:C0018891		animal helminthiasis|Helminthiases, animal|animal Helminthiases	http://purl.obolibrary.org/obo/MONDO_0025082	Infestation of animals with parasitic worms of the helminth class. The infestation may be experimental or veterinary.	UMLS:C0018891|MESH:D006374
NCBITaxon:35500	Pecora	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_35500		
MONDO:0013091	glycogen storage disease IXc	biolink:Disease	mondo	OMIM:613027|DOID:0111043|UMLS:C2751643|MESH:C567809		PHKG2-related glycogen storage disease type IX|PHKG2 glycogen storage disease|GSD type 9C|GSD IXc|GSD type IXc|glycogen storage disease type 9C|glycogen storage disease IXc|glycogen storage disease type IXc|glycogen storage disease caused by mutation in PHKG2|GSD9C|glycogen storage disease IXc; GSD9C|glycogenosis type 9C	http://purl.obolibrary.org/obo/MONDO_0013091	A liver PhK deficiency caused by variants in the PHKG2 gene	http://identifiers.org/omim/613027|MESH:C567809|DOID:0111043|UMLS:C2751643
MONDO:0013092	glioma susceptibility 2	biolink:Disease	mondo	OMIM:613028	predisposition	malignant glioma caused by mutation in PTEN|glioma susceptibility 2|glioma susceptibility 2; GLM2|GLM2|PTEN malignant glioma|glioma susceptibility type 2	http://purl.obolibrary.org/obo/MONDO_0013092	Any malignant glioma in which the cause of the disease is a mutation in the PTEN gene.	http://identifiers.org/omim/613028
MONDO:0013090	chromosome 19q13.11 deletion syndrome	biolink:Disease	mondo	DOID:0060408|UMLS:C4304577|SCTID:719599008|OMIM:613026|MESH:C567810|Orphanet:217346|UMLS:C2751651|GARD:0010592|ICD10:Q93.5	gard_rare|ordo_malformation_syndrome	monosomy 19q13.11|19q13.11 microdeletion syndrome|chromosome 19Q13.11 deletion syndrome, distal|chromosome 19q13.11 deletion syndrome, distal|Del(19)(q13.11)|chromosome 19q13.11 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0013090	The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.	http://identifiers.org/omim/613026|MESH:C567810|UMLS:C4304577|SNOMEDCT:719599008|UMLS:C2751651|DOID:0060408|ORPHA:217346
GO:0060294	cilium movement involved in cell motility	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060294	Movement of cilia mediated by motor proteins that contributes to the movement of a cell.	
MONDO:0040674	orgasm disorder	biolink:Disease	mondo	ICD10:F52.3|SCTID:82636008		abnormal orgasm|orgasm disorder|orgasmic dysfunction	http://purl.obolibrary.org/obo/MONDO_0040674		SNOMEDCT:82636008
MONDO:0040673	malignant peritoneal germ cell tumor	biolink:Disease	mondo	UMLS:C4526657|NCIT:C136410		malignant peritoneal germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0040673	A malignant germ cell tumor that affects the peritoneum.	NCIT:C136410|UMLS:C4526657
GO:0060295	regulation of cilium movement involved in cell motility	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060295	Any process that modulates the rate frequency or extent of cilium movement involved in ciliary motility.	
MONDO:0040671	class V glucose-6-phosphate dehydrogenase deficiency	biolink:Disease	mondo	SCTID:80963002|UMLS:C0272060		G6PD class V variant anemia|glucose-6-phosphate dehydrogenase deficiency class V variant anemia	http://purl.obolibrary.org/obo/MONDO_0040671		UMLS:C0272060|SNOMEDCT:80963002
MONDO:0013095	GLM6	biolink:Disease	mondo	UMLS:C2751639|OMIM:613031		glioma susceptibility 6; GLM6|GLM6|glioma susceptibility 6	http://purl.obolibrary.org/obo/MONDO_0013095		UMLS:C2751639|http://identifiers.org/omim/613031
MONDO:0013096	GLM7	biolink:Disease	mondo	OMIM:613032		glioma susceptibility 7|glioma susceptibility 7; GLM7|GLM7	http://purl.obolibrary.org/obo/MONDO_0013096		http://identifiers.org/omim/613032
MONDO:0013093	glioma susceptibility 3	biolink:Disease	mondo	OMIM:613029	predisposition	BRCA2 malignant glioma|glioma susceptibility 3; GLM3|glioma susceptibility 3|GLM3|glioma susceptibility type 3|malignant glioma caused by mutation in BRCA2	http://purl.obolibrary.org/obo/MONDO_0013093	Any malignant glioma in which the cause of the disease is a mutation in the BRCA2 gene.	http://identifiers.org/omim/613029
MONDO:0013094	GLM5	biolink:Disease	mondo	OMIM:613030		glioma susceptibility 5; GLM5|GLM5|glioma susceptibility 5	http://purl.obolibrary.org/obo/MONDO_0013094		http://identifiers.org/omim/613030
GO:0098869	cellular oxidant detoxification	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0098869	Any process carried out at the cellular level that reduces or removes the toxicity superoxide radicals or hydrogen peroxide.	
MONDO:0013099	combined pituitary hormone deficiencies, genetic form	biolink:Disease	mondo	OMIMPS:613038|SCTID:718182008|GARD:0002252|GARD:0010602|Orphanet:95494|ICD10:E23.0	ordo_disease|gard_rare	familial hypopituitarism|pituitary hormone deficiency, combined|genetic hypopituitarism|combined pituitary hormone deficiencies, genetic forms|multiple pituitary hormone deficiencies, genetic forms|familial congenital hypopituitarism	http://purl.obolibrary.org/obo/MONDO_0013099	Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.	ORPHA:95494|SNOMEDCT:718182008
MONDO:0013097	GLM8	biolink:Disease	mondo	OMIM:613033|UMLS:C2751637		glioma susceptibility 8|GLM8|glioma susceptibility 8; GLM8	http://purl.obolibrary.org/obo/MONDO_0013097		UMLS:C2751637|http://identifiers.org/omim/613033
MONDO:0013098	noise induced hearing loss	biolink:Disease	mondo	OMIM:613035|SCTID:73415002|ICD9:388.12|NCIT:C34664|MESH:D006317|COHD:440422|EFO:1001254		hearing loss, noise-induced, susceptibility to|hearing loss, noise-induced, susceptibility to; NIHL|NIHL|noise-induced hearing loss	http://purl.obolibrary.org/obo/MONDO_0013098	A condition in which a person loses the ability to hear due to exposure to high intensity sound.	MESH:D006317|SNOMEDCT:73415002|http://identifiers.org/omim/613035|NCIT:C34664
MONDO:0013080	primary biliary cholangitis 3	biolink:Disease	mondo	MESH:C567816|UMLS:C2751695|OMIM:613008		biliary cirrhosis, primary, 3|biliary cirrhosis, primary, 3; PBC3|PBC3	http://purl.obolibrary.org/obo/MONDO_0013080		http://identifiers.org/omim/613008|MESH:C567816|UMLS:C2751695
MONDO:0013081	lymphoproliferative syndrome 1	biolink:Disease	mondo	UMLS:C3552634|DOID:0060707|Orphanet:538963|MESH:C567815|ICD10:D47.9|OMIM:613011|NCIT:C126344	ordo_disease	lymphoproliferative syndrome 1; LPFS1|lymphoproliferative syndrome 1|ITK lymphoproliferative syndrome|ITK deficiency|lymphoproliferative syndrome caused by mutation in ITK|lymphoproliferative syndrome type 1|LPFS1	http://purl.obolibrary.org/obo/MONDO_0013081	A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia..	DOID:0060707|UMLS:C3552634|http://identifiers.org/omim/613011|MESH:C567815|ORPHA:538963|NCIT:C126344
MONDO:0025062	encephalomyelitis, enzootic porcine	biolink:Disease	mondo	MESH:D004682		poliomyelitis, porcine|disease, Teschen|Talfan disease|Teschen disease|porcine poliomyelitis|porcine encephalomyelitis, enzootic|enzootic porcine encephalomyelitis|disease, Talfan	http://purl.obolibrary.org/obo/MONDO_0025062	A picornavirus infection producing symptoms similar to poliomyelitis in pigs.	MESH:D004682
MONDO:0025061	edema disease of swine	biolink:Disease	mondo	UMLS:C0013605|MESH:D004488		swine edema disease|swine edema diseases	http://purl.obolibrary.org/obo/MONDO_0025061	An acute disease of young pigs that is usually associated with weaning. It is characterized clinically by paresis and subcutaneous edema.	MESH:D004488|UMLS:C0013605
MONDO:0025066	epidermitis, exudative, of swine	biolink:Disease	mondo	MESH:D004818|UMLS:C0014521		Epidermitis, exudative of swine|exudative dermatitis of swine|disease, greasy pig|greasy pig disease|swine exudative dermatitis|swine exudative Dermatitides	http://purl.obolibrary.org/obo/MONDO_0025066	An acute generalized dermatitis of pigs which occurs from 5 to 35 days of age, characterized by sudden onset, with morbidity of 10 to 90% and mortality of 5 to 90%. The lesions are caused by Staphylococcus hyos but the bacterial agent is unable to penetrate the intact skin. Abrasions on the feet and legs or lacerations on the body frequently precede infection. In acute cases, a vesicular-type virus may be the predisposing factor. The causative organism is inhibited by most antibiotics. (Merck Veterinary Manual, 5th ed)	MESH:D004818|UMLS:C0014521
NCBITaxon:504568	Salmoninae	organism taxon	mondo	GC_ID:1		trouts, salmons & chars	http://purl.obolibrary.org/obo/NCBITaxon_504568		
GO:0060284	regulation of cell development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060284	Any process that modulates the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate.	
GO:0060285	cilium-dependent cell motility	biolink:OntologyClass	mondo			microtubule-based flagellar cell motility|ciliary cell motility|cilium cell motility	http://purl.obolibrary.org/obo/GO_0060285	Cell motility due to the motion of one or more eukaryotic cilia. A eukaryotic cilium is a specialized organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole.	
MONDO:0040678	infiltrating urothelial carcinoma	biolink:Disease	mondo	UMLS:C1512751|NCIT:C39853		infiltrating urothelial carcinoma|infiltrating transitional cell carcinoma of the urinary tract	http://purl.obolibrary.org/obo/MONDO_0040678	A invasive carcinoma that involves the urothelium.	UMLS:C1512751|NCIT:C39853
GO:1900073	regulation of neuromuscular synaptic transmission	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1900073	Any process that modulates the frequency, rate or extent of neuromuscular synaptic transmission.	
MONDO:0040677	invasive carcinoma	biolink:Disease	mondo	NCIT:C9480|UMLS:C1334274		invasive carcinoma	http://purl.obolibrary.org/obo/MONDO_0040677	A carcinoma that is not confined to the epithelium, and has spread to the surrounding stroma.	UMLS:C1334274|NCIT:C9480
MONDO:0040676	great vessel cancer	biolink:Disease	mondo	NCIT:C4575|UMLS:C3665405		malignant great vessel of heart neoplasm|great vessel of heart cancer|malignant neoplasm of great vessel of heart|malignant great vessel neoplasm|cancer of great vessel of heart|malignant great vessel tumor|great vessel cancer	http://purl.obolibrary.org/obo/MONDO_0040676	A malignant neoplasm arising from the great vessels.	NCIT:C4575|UMLS:C3665405
GO:1900075	positive regulation of neuromuscular synaptic transmission	biolink:OntologyClass	mondo			up regulation of neuromuscular synaptic transmission|upregulation of neuromuscular synaptic transmission|activation of neuromuscular synaptic transmission|up-regulation of neuromuscular synaptic transmission	http://purl.obolibrary.org/obo/GO_1900075	Any process that activates or increases the frequency, rate or extent of neuromuscular synaptic transmission.	
MONDO:0040675	myofibroblastoma	biolink:Disease	mondo	ICDO:8825/0|NCIT:C49012		myofibroblastoma	http://purl.obolibrary.org/obo/MONDO_0040675	A benign, well circumscribed soft tissue neoplasm characterized by the presence of spindle shaped myofibroblasts and mast cells in a collagenous stroma.	NCIT:C49012
GO:1900074	negative regulation of neuromuscular synaptic transmission	biolink:OntologyClass	mondo			inhibition of neuromuscular synaptic transmission|down-regulation of neuromuscular synaptic transmission|down regulation of neuromuscular synaptic transmission|downregulation of neuromuscular synaptic transmission	http://purl.obolibrary.org/obo/GO_1900074	Any process that stops, prevents or reduces the frequency, rate or extent of neuromuscular synaptic transmission.	
MONDO:0040679	urothelial carcinoma	biolink:Disease	mondo	NCIT:C4030|EFO:0008528|UMLS:C2145472		transitional cell car. -uroth.|Uroepithelial carcinoma|urothelial carcinoma|transitional cell carcinoma of the urothelial tract|transitional cell carcinoma of the urinary tract	http://purl.obolibrary.org/obo/MONDO_0040679	A malignant neoplasm derived from the transitional epithelium of the urinary tract (urinary bladder, ureter, urethra, or renal pelvis). It is frequently papillary.	UMLS:C2145472|NCIT:C4030
MONDO:0013084	NBLST4	biolink:Disease	mondo	OMIM:613015	predisposition	NBLST4|neuroblastoma, susceptibility to, 4; NBLST4|neuroblastoma, susceptibility to, 4	http://purl.obolibrary.org/obo/MONDO_0013084		http://identifiers.org/omim/613015
MONDO:0013085	NBLST5	biolink:Disease	mondo	OMIM:613016	predisposition	NBLST5|neuroblastoma, susceptibility to, 5; NBLST5|neuroblastoma, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0013085		http://identifiers.org/omim/613016
MONDO:0013082	Hirschsprung disease-ganglioneuroblastoma syndrome	biolink:Disease	mondo	GARD:0002695|Orphanet:2151|MESH:C538119|UMLS:C2751683|ICD10:Q43.1|OMIM:613013	predisposition|ordo_malformation_syndrome	neuroblastoma, susceptibility to, type 2|neuroblastoma with Hirschsprung disease|Hirschsprung disease ganglioneuroblastoma|susceptibility to neuroblastoma 2|neuroblastoma, susceptibility to, 2; NBLST2|neuroblastoma, susceptibility to, 2|NBLST2	http://purl.obolibrary.org/obo/MONDO_0013082		UMLS:C2751683|http://identifiers.org/omim/613013|MESH:C538119|ORPHA:2151
MONDO:0013083	neuroblastoma, susceptibility to, 3	biolink:Disease	mondo	OMIM:613014	predisposition	neuroblastoma, susceptibility to, type 3|susceptibility to neuroblastoma 3|ALK neuroblastoma|neuroblastoma, susceptibility to, 3; NBLST3|neuroblastoma, susceptibility to, 3|NBLST3|neuroblastoma caused by mutation in ALK	http://purl.obolibrary.org/obo/MONDO_0013083	Any neuroblastoma in which the cause of the disease is a mutation in the ALK gene.	http://identifiers.org/omim/613014
MONDO:0013088	FL1	biolink:Disease	mondo	OMIM:613024	predisposition	follicular lymphoma, susceptibility to, 1|FL1|follicular lymphoma, susceptibility to, 1; FL1	http://purl.obolibrary.org/obo/MONDO_0013088		http://identifiers.org/omim/613024
MONDO:0013089	SCZD13	biolink:Disease	mondo	DOID:0070089|UMLS:C2751663|OMIM:613025		schizophrenia susceptibility locus, chromosome 15Q13-q14-related|schizophrenia, Neurophysiologic defect 1N|schizophrenia 13; SCZD13|schizophrenia 13|SCZD13	http://purl.obolibrary.org/obo/MONDO_0013089	A schizophrenia that has material basis in a mutation on chromosome 15q13.	UMLS:C2751663|DOID:0070089|http://identifiers.org/omim/613025
MONDO:0013086	NBLST6	biolink:Disease	mondo	OMIM:613017	predisposition	neuroblastoma, susceptibility to, 6|NBLST6|neuroblastoma, susceptibility to, 6; NBLST6	http://purl.obolibrary.org/obo/MONDO_0013086		http://identifiers.org/omim/613017
MONDO:0013087	bronchiectasis with or without elevated sweat chloride 2	biolink:Disease	mondo	OMIM:613021|DOID:0080527|MESH:C567813|UMLS:C2751666		cystic fibrosis-like syndrome|bronchiectasis caused by mutation in SCNN1A|SCNN1A bronchiectasis|bronchiectasis with or without elevated sweat chloride 2|bronchiectasis with or without elevated sweat chloride 2; BESC2|BESC2|bronchiectasis with or without elevated sweat chloride type 2	http://purl.obolibrary.org/obo/MONDO_0013087	Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1A gene.	UMLS:C2751666|http://identifiers.org/omim/613021|MESH:C567813|DOID:0080527
MONDO:0001004	slate pneumoconiosis	biolink:Disease	mondo	NCIT:C35397|SCTID:1259003|ICD9:502|DOID:10330|UMLS:C0340186		Schistosis	http://purl.obolibrary.org/obo/MONDO_0001004	Pneumoconiosis caused by exposure to slate dust.	SNOMEDCT:1259003|UMLS:C0340186|DOID:10330|NCIT:C35397
NCBITaxon:11584	Phlebovirus	organism taxon	mondo	GC_ID:1		Phleboviruses	http://purl.obolibrary.org/obo/NCBITaxon_11584		
MONDO:0003667	obsolete spermatocytoma	biolink:Disease	mondo			spermatocytic seminoma|spermatocytic seminoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003667		
MONDO:0003668	extragonadal seminoma	biolink:Disease	mondo	UMLS:C1333502|DOID:5838|NCIT:C7327		primary extragonadal seminoma|extragonadal seminoma|extragonadal primary seminoma	http://purl.obolibrary.org/obo/MONDO_0003668		NCIT:C7327|UMLS:C1333502|DOID:5838
MONDO:0001003	pneumoconiosis due to talc	biolink:Disease	mondo	UMLS:C0238377|NCIT:C27026|ICD9:502|ICD10:J62.0|DOID:10329|SCTID:73144008		talc pneumoconiosis	http://purl.obolibrary.org/obo/MONDO_0001003	Pneumoconiosis caused by exposure to talc. It is characterized by fibrosis and granulomatous changes in the lung parenchyma. Chest x-rays reveal diffuse lung opacities and pleural abnormalities.	NCIT:C27026|SNOMEDCT:73144008|DOID:10329|UMLS:C0238377
MONDO:0003669	testicular seminoma	biolink:Disease	mondo	EFO:0003101|Orphanet:842|NCIT:C7328|ICD9:186.9|GARD:0004792|ICD10:C62.9|HP:0100617|SCTID:255107005|DOID:5842	gard_rare|ordo_disease	testicular seminoma Pure|seminoma of the testis|testis seminoma|testicular seminoma (disease)|testicular seminomatous germ cell tumor|seminomatous germ cell tumor of testis|testicular seminoma|seminoma testis|seminoma of testis	http://purl.obolibrary.org/obo/MONDO_0003669	A malignant germ cell tumor arising from the testis. It is believed that it is derived from the sexually undifferentiated embryonic gonad. Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma.	ORPHA:842|NCIT:C7328|SNOMEDCT:255107005|DOID:5842
MONDO:0001002	obsolete pulmonary siderosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001002		
MONDO:0001001	baritosis	biolink:Disease	mondo	DOID:10321|ICD9:503|SCTID:50076003|UMLS:C0340177|GARD:0008371|NCIT:C34410|MESH:C537080	gard_rare	deposition of barium in the lungs|inhalation of barytes	http://purl.obolibrary.org/obo/MONDO_0001001	A rare type of pneumoconiosis caused by long standing exposure to barium dust. It is characterized by the formation of fine dense lesions in the lung parenchyma. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops.	UMLS:C0340177|DOID:10321|SNOMEDCT:50076003|MESH:C537080|NCIT:C34410
MONDO:0003663	uterine ligament endometrioid adenocarcinoma	biolink:Disease	mondo	DOID:5829|UMLS:C1519868|NCIT:C40138		endometrioid adenocarcinoma of uterine ligament|uterine ligament endometrioid adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003663	A rare endometrioid adenocarcinoma that arises from the uterine ligament. Some of the reported cases were associated with endometriosis.	UMLS:C1519868|NCIT:C40138|DOID:5829
MONDO:0001008	blepharophimosis (disease)	biolink:Disease	mondo	ICD10:H02.52|GARD:0005932|DOID:10348|ICD9:374.46|MESH:D016569|HP:0000581		blepharophimosis	http://purl.obolibrary.org/obo/MONDO_0001008	The abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. (Dorland, 27th ed)	DOID:10348|MESH:D016569
NCBITaxon:11588	Rift Valley fever virus	organism taxon	mondo	GC_ID:1		RVFV	http://purl.obolibrary.org/obo/NCBITaxon_11588		
UBERON:0012283	femoral fat pad	biolink:AnatomicalEntity	mondo			femoral fat depot	http://purl.obolibrary.org/obo/UBERON_0012283	encapsulated adipose tissue associated with the femur	
MONDO:0001007	chronic meningitis	biolink:Disease	mondo	COHD:439797|DOID:10341|ICD9:322.2|UMLS:C0154653|SCTID:21664006|ICD10:G03.1		meningitis (disease), chronic|chronic meningitis (disease)	http://purl.obolibrary.org/obo/MONDO_0001007	Chronic form of meningitis (disease).	SNOMEDCT:21664006|DOID:10341|UMLS:C0154653
MONDO:0003664	hemolytic anemia	biolink:Disease	mondo	SCTID:61261009|ICD10:D55.D59|DOID:583|ICD10:D55-D59|MESH:D000743|EFO:0005558|NCIT:C34376		anemia, hemolytic|hemolytic anemia|anemia hemolytic	http://purl.obolibrary.org/obo/MONDO_0003664	Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies.	NCIT:C34376|DOID:583|MESH:D000743|SNOMEDCT:61261009
UBERON:0036253	orifice of skull	biolink:AnatomicalEntity	mondo			cranial orifice|skull orifice	http://purl.obolibrary.org/obo/UBERON_0036253		
MONDO:0003665	cervical endometrioid adenocarcinoma	biolink:Disease	mondo	UMLS:C1332913|ONCOTREE:CEEN|NCIT:C6343|EFO:1000164|DOID:5830		cervical endometrioid carcinoma|endometrioid adenocarcinoma of cervix|endometrioid adenocarcinoma of the cervix|endometrioid adenocarcinoma of cervix uteri|cervical endometrioid adenocarcinoma|endometrioid adenocarcinoma of uterine cervix|endometrioid adenocarcinoma of the cervix uteri|endometrioid adenocarcinoma of the uterine cervix|uterine cervix endometrioid carcinoma|uterine cervix endometrioid adenocarcinoma|cervix uteri endometrioid carcinoma|endometrioid carcinoma of cervix|endometrioid carcinoma of the cervix|cervix endometrioid adenocarcinoma|cervix endometrioid carcinoma|endometrioid carcinoma of cervix uteri|endometrioid carcinoma of uterine cervix|endometrioid carcinoma of the uterine cervix|cervix uteri endometrioid adenocarcinoma|endometrioid carcinoma of the cervix uteri	http://purl.obolibrary.org/obo/MONDO_0003665	A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium.	NCIT:C6343|DOID:5830|UMLS:C1332913
GO:0050820	positive regulation of coagulation	biolink:OntologyClass	mondo			upregulation of coagulation|up-regulation of coagulation|positive regulation of clotting|up regulation of coagulation|activation of coagulation|stimulation of coagulation	http://purl.obolibrary.org/obo/GO_0050820	Any process that activates or increases the frequency, rate or extent of coagulation.	
MONDO:0001006	glaucomatous atrophy of optic disc	biolink:Disease	mondo	DOID:10337|ICD9:377.14|UMLS:C0271342|SCTID:1207009|COHD:438155|ICD10:H47.23		glaucomatous atrophy [cupping] of optic disc	http://purl.obolibrary.org/obo/MONDO_0001006		DOID:10337|UMLS:C0271342|SNOMEDCT:1207009
UBERON:0012282	mammary fat pad	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0012282	encapsulated adipose tissue associated with the mammary gland	
MONDO:0001005	kaolin pneumoconiosis	biolink:Disease	mondo	DOID:10331|SCTID:36696005|ICD9:502|GARD:0008355|UMLS:C0264435|NCIT:C35315	gard_rare	Kaolinosis|simple kaolinosis	http://purl.obolibrary.org/obo/MONDO_0001005	Pneumoconiosis caused by inhalation of kaolin dust.	UMLS:C0264435|DOID:10331|SNOMEDCT:36696005|NCIT:C35315
MONDO:0003666	fallopian tube endometrioid adenocarcinoma	biolink:Disease	mondo	UMLS:C1333592|NCIT:C6279|DOID:5831		fallopian tube endometrioid adenocarcinoma|fallopian tube endometrioid cancer|fallopian tube endometrioid carcinoma|endometrioid carcinoma of fallopian tube|endometrioid carcinoma of the fallopian tube|endometrioid adenocarcinoma of fallopian tube|fallopian tube endometrioid neoplasm|endometrioid adenocarcinoma of the fallopian tube	http://purl.obolibrary.org/obo/MONDO_0003666	An adenocarcinoma that arises from the fallopian tube and resembles the endometrioid adenocarcinoma of the uterus. It usually has a favorable prognosis.	NCIT:C6279|UMLS:C1333592|DOID:5831
UBERON:0012281	perianal sebaceous gland	biolink:AnatomicalEntity	mondo			circumanal gland|perianal gland	http://purl.obolibrary.org/obo/UBERON_0012281	A holocrine gland that is part of the pilosebaceous unit of a hair located in the area around the anus.	
MONDO:0003660	adult lymphoma	biolink:Disease	mondo	NCIT:C7587|DOID:5825|UMLS:C1332206		lymphoma of adults|lymphoma|adult lymphoma	http://purl.obolibrary.org/obo/MONDO_0003660	A lymphoma that occurs in an adult.	UMLS:C1332206|DOID:5825|NCIT:C7587
NCBITaxon:60516	Dibothriocephalus latus	organism taxon	mondo	GC_ID:1		Diphyllobothrium latum|broad fish tapeworm	http://purl.obolibrary.org/obo/NCBITaxon_60516		
UBERON:0012287	Rathkes pouch epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0012287	A epithelial sac that is part of a Rathke's pouch.	
MONDO:0003661	breast lymphoma	biolink:Disease	mondo	UMLS:C0349669|SCTID:278052009|UMLS:C1704251|DOID:5826|NCIT:C4671		malignant lymphoma of breast|lymphoma of breast|breast lymphoma|lymphoma of the breast|primary breast lymphoma	http://purl.obolibrary.org/obo/MONDO_0003661	A lymphoma that arises from the breast. There is no history of extramammary breast lymphoma and ipsilateral axillary lymph node involvement does not exclude the diagnosis of primary breast lymphoma. Most patients present with a painless breast lump. The vast majority of cases are B-cell non-Hodgkin lymphomas. Diffuse large B-cell lymphoma, follicular lymphoma, and extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue are the most common types of primary non-Hodgkin lymphoma of the breast. Primary Hodgkin lymphoma of the breast is rare.	UMLS:C0349669|SNOMEDCT:278052009|NCIT:C4671|DOID:5826|UMLS:C1704251
MONDO:0003662	obsolete endometrioid ovary carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003662		
MONDO:0001000	mixed mineral dust pneumoconiosis	biolink:Disease	mondo	ICD9:503|UMLS:C0340184|DOID:10319|SCTID:233759002|NCIT:C27559		mineral dust pneumoconiosis|pneumoconiosis from mineral dust|mineral duct pneumoconiosis|mixed mineral dust pneumoconiosis	http://purl.obolibrary.org/obo/MONDO_0001000	Pneumoconiosis caused by the inhalation of mixed mineral dust particles.	UMLS:C0340184|NCIT:C27559|DOID:10319|SNOMEDCT:233759002
HGNC:24475	DMGDH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24475		
GO:2001273	obsolete regulation of glucose import in response to insulin stimulus	biolink:OntologyClass	mondo			regulation of cellular glucose import in response to insulin stimulus	http://purl.obolibrary.org/obo/GO_2001273	OBSOLETE. Any process that modulates the frequency, rate or extent of glucose import in response to insulin stimulus.	
MONDO:0015656	metabolic disease with epilepsy	biolink:Disease	mondo	UMLS:C1299598|Orphanet:166481	ordo_group_of_disorders	metabolic diseases with epilepsy	http://purl.obolibrary.org/obo/MONDO_0015656		UMLS:C1299598|ORPHA:166481
GO:2001274	obsolete negative regulation of glucose import in response to insulin stimulus	biolink:OntologyClass	mondo			negative regulation of cellular glucose import in response to insulin stimulus	http://purl.obolibrary.org/obo/GO_2001274	OBSOLETE. Any process that stops, prevents or reduces the frequency, rate or extent of glucose import in response to insulin stimulus.	
MONDO:0015655	cerebral malformation with epilepsy	biolink:Disease	mondo	Orphanet:166478	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015655		ORPHA:166478
MONDO:0015654	idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes	biolink:Disease	mondo	Orphanet:166475|UMLS:CN200064	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015654		ORPHA:166475|UMLS:CN200064
GO:2001275	obsolete positive regulation of glucose import in response to insulin stimulus	biolink:OntologyClass	mondo			positive regulation of cellular glucose import in response to insulin stimulus	http://purl.obolibrary.org/obo/GO_2001275	OBSOLETE. Any process that activates or increases the frequency, rate or extent of glucose import in response to insulin stimulus.	
MONDO:0015653	monogenic epilepsy	biolink:Disease	mondo	UMLS:CN200063|Orphanet:166472	ordo_group_of_disorders	monogenic disease with epilepsy	http://purl.obolibrary.org/obo/MONDO_0015653		ORPHA:166472|UMLS:CN200063
MONDO:0015659	infectious disease with epilepsy	biolink:Disease	mondo	Orphanet:166490|UMLS:CN200068	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015659		ORPHA:166490|UMLS:CN200068
MONDO:0015658	cerebral diseases of vascular origin with epilepsy	biolink:Disease	mondo	Orphanet:166487|UMLS:CN200067	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015658		ORPHA:166487|UMLS:CN200067
MONDO:0015657	inflammatory and autoimmune disease with epilepsy	biolink:Disease	mondo	Orphanet:166484|UMLS:CN200066	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015657		ORPHA:166484|UMLS:CN200066
MONDO:0015652	chromosomal anomaly with epilepsy as a major feature	biolink:Disease	mondo	Orphanet:166469	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015652		ORPHA:166469
MONDO:0015651	neurocutaneous syndrome with epilepsy	biolink:Disease	mondo	UMLS:CN200062|Orphanet:166466	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015651		ORPHA:166466|UMLS:CN200062
HGNC:12496	UBE3A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12496		
HGNC:7045	MGAT2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7045		
MONDO:0015650	epilepsy syndrome	biolink:Disease	mondo	Orphanet:166463	ordo_group_of_disorders	syndromic epilepsy|epileptic syndrome	http://purl.obolibrary.org/obo/MONDO_0015650		ORPHA:166463
MONDO:0001015	eosinophilic meningitis	biolink:Disease	mondo	NCIT:C128374|SCTID:25671008|ICD9:322.1|DOID:10361|COHD:443746|UMLS:C0154652			http://purl.obolibrary.org/obo/MONDO_0001015	Meningitis in which eosinophils predominate in the cerebrospinal fluid.	SNOMEDCT:25671008|DOID:10361|UMLS:C0154652|NCIT:C128374
MONDO:0003678	silent myocardial infarction	biolink:Disease	mondo	NCIT:C35400|SCTID:233843008|UMLS:C0340324|DOID:5854		silent myocardial infarction	http://purl.obolibrary.org/obo/MONDO_0003678	A history of myocardial infarction in the absence of clinical symptoms and positive electrocardiographic findings.	UMLS:C0340324|SNOMEDCT:233843008|NCIT:C35400|DOID:5854
MONDO:0001014	chronic leukemia	biolink:Disease	mondo	SCTID:92812005|UMLS:C1279296|NCIT:C3483|COHD:140057|DOID:1036|ICD9:208.10		adult chronic leukemia|chronic leukemia|leukemia (disease), chronic|chronic leukemia (disease)|CLL|CML	http://purl.obolibrary.org/obo/MONDO_0001014	A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia.	DOID:1036|NCIT:C3483|SNOMEDCT:92812005|UMLS:C1279296
MONDO:0003679	anteroseptal myocardial infarction	biolink:Disease	mondo	DOID:5855|UMLS:C0262565			http://purl.obolibrary.org/obo/MONDO_0003679		UMLS:C0262565|DOID:5855
MONDO:0001013	obsolete fibrosclerosis of breast	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001013		
HGNC:24488	POC1A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24488		
MONDO:0001012	obsolete breast fibroadenosis	biolink:Disease	mondo	SCTID:23260002|COHD:75010|DOID:10352|ICD9:610.2|ICD10:N60.2|UMLS:C1305875		fibroadenosis of breast|fibroadenosis - breast	http://purl.obolibrary.org/obo/MONDO_0001012		SNOMEDCT:23260002|DOID:10352|UMLS:C1305875
NCBITaxon:11598		organism taxon	mondo				http://purl.obolibrary.org/obo/NCBITaxon_11598		
MONDO:0003674	subendocardial myocardial infarction	biolink:Disease	mondo	DOID:5849|UMLS:C0262568		myocardial infarction (disease) of subendocardium layer|subendocardium layer myocardial infarction (disease)	http://purl.obolibrary.org/obo/MONDO_0003674	An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the subendocardial layer of the wall of the heart.	UMLS:C0262568|NCIT:C35305|DOID:5849
MONDO:0001019	suppression amblyopia	biolink:Disease	mondo	ICD9:368.01|UMLS:C0750903|DOID:10375|COHD:374649|SCTID:35600002|ICD10:H53.03		strabismic amblyopia	http://purl.obolibrary.org/obo/MONDO_0001019	A nonspecific term referring to impaired vision. Major subcategories include stimulus deprivation-induced amblyopia and toxic amblyopia. Stimulus deprivation-induced amblyopia is a developmental disorder of the visual cortex. A discrepancy between visual information received by the visual cortex from each eye results in abnormal cortical development. strabismus and refractive errors may cause this condition. Toxic amblyopia is a disorder of the optic nerve which is associated with alcoholism, tobacco smoking, and other toxins and as an adverse effect of the use of some medications.	UMLS:C0750903|DOID:10375|SNOMEDCT:35600002
UBERON:0012273	periampullary region of duodenum	biolink:AnatomicalEntity	mondo			periampullary region	http://purl.obolibrary.org/obo/UBERON_0012273		
UBERON:0036262	uterine ligament	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0036262	Any of the eight ligaments pertaining to the uterus including the anterior, posterior, lateral, sacro-uterine and round ligaments.	
NCBITaxon:11599		organism taxon	mondo				http://purl.obolibrary.org/obo/NCBITaxon_11599		
MONDO:0003675	posterolateral myocardial infarction	biolink:Disease	mondo	DOID:5851			http://purl.obolibrary.org/obo/MONDO_0003675	An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posterolateral wall of the heart.	NCIT:C35672|DOID:5851
MONDO:0001018	obsolete lymphoblastic leukemia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001018		
UBERON:0036264	zygomaticotemporal nerve	biolink:AnatomicalEntity	mondo			zygomaticotemporal branch of zygomatic nerve|zygomaticotemporal branch|ramus zygomaticotemporalis (Nervus zygomaticus)|ramus zygomaticotemporalis nervus zygomatici|zygomaticotemporal	http://purl.obolibrary.org/obo/UBERON_0036264	The zygomaticotemporal nerve or zygomaticotemporal branch (temporal branch) is derived from the maxillary branch of the trigeminal nerve (Cranial nerve V). It runs along the lateral wall of the orbit in a groove in the zygomatic bone, receives a branch of communication from the lacrimal, and passes through zygomaticotemporal foramen in the zygomatic bone to enter the temporal fossa. It ascends between the bone, and substance of the Temporalis muscle, pierces the temporal fascia about 2.5 cm. above the zygomatic arch, and is distributed to the skin of the side of the forehead, and communicates with the facial nerve and with the auriculotemporal branch of the mandibular nerve. As it pierces the temporal fascia, it gives off a slender twig, which runs between the two layers of the fascia to the lateral angle of the orbit.	
MONDO:0001017	epididymal adenocarcinoma	biolink:Disease	mondo	DOID:10368|UMLS:C1510784|NCIT:C39957		adenocarcinoma of the epididymis|epididymal adenocarcinoma|epididymis adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0001017	A rare adenocarcinoma that arises from the epididymis. It usually presents as a scrotal mass and may be associated with testicular pain.	UMLS:C1510784|DOID:10368|NCIT:C39957
MONDO:0003676	inferolateral myocardial infarct	biolink:Disease	mondo	DOID:5852			http://purl.obolibrary.org/obo/MONDO_0003676	An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the inferolateral wall of the heart.	NCIT:C35673|DOID:5852
ENVO:00000194	scree	biolink:OntologyClass	mondo			TALUS|talus slope	http://purl.obolibrary.org/obo/ENVO_00000194	Broken rock that appears at the bottom of crags, mountain cliffs or valley shoulders.	
MONDO:0001016	epididymis cancer	biolink:Disease	mondo	DOID:10366|NCIT:C3558|UMLS:C0153602|ICD10:C63.0|ICD9:187.5|SCTID:363452003		malignant epididymal tumor|malignant epididymal neoplasm|malignant tumor of epididymis|malignant tumor of the epididymis|epididymis cancer|malignant neoplasm of epididymis|malignant neoplasm of the epididymis|cancer of epididymis|malignant epididymis neoplasm	http://purl.obolibrary.org/obo/MONDO_0001016	A primary or metastatic malignant neoplasm that affects the epididymis. Representative examples include primary epididymal adenocarcinoma and metastatic carcinoma to the epididymis arising from another anatomic site.	DOID:10366|UMLS:C0153602|NCIT:C3558|SNOMEDCT:363452003
MONDO:0003677	lateral myocardial infarction	biolink:Disease	mondo	DOID:5853			http://purl.obolibrary.org/obo/MONDO_0003677		DOID:5853
UBERON:0036263	supraglottic part of larynx	biolink:AnatomicalEntity	mondo			supraglottic larynx|supraglottis	http://purl.obolibrary.org/obo/UBERON_0036263	The upper part of the larynx, including the epiglottis; the area above the vocal cords.	
UBERON:0036266	pars interarticularis of vertebra	biolink:AnatomicalEntity	mondo			pars interarticularis	http://purl.obolibrary.org/obo/UBERON_0036266	The part of vertebra located between the inferior and superior articular processes of the facet joint.	
MONDO:0003670	posteroinferior myocardial infarction	biolink:Disease	mondo	DOID:5843		posteroinferior myocardial infarction by ECG finding|posteroinferior myocardial infarction by EKG finding	http://purl.obolibrary.org/obo/MONDO_0003670	An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posteroinferior wall of the heart.	NCIT:C36068|DOID:5843
ENVO:00000191	solid astronomical body part	biolink:OntologyClass	mondo			geological feature|physiographic feature	http://purl.obolibrary.org/obo/ENVO_00000191	A part of an astronomical body which is primarily composed of a continuous volume of solid material, shaped by one or more environmental processes.	
MONDO:0003671	septal myocardial infarction	biolink:Disease	mondo	DOID:5846		myocardial infarction (disease) of cardiac septum|cardiac septum myocardial infarction (disease)	http://purl.obolibrary.org/obo/MONDO_0003671	A myocardial infarction (disease) that involves the cardiac septum.	DOID:5846
UBERON:0012276	endometrium glandular epithelium	biolink:AnatomicalEntity	mondo			glandular part of endometrium|uterine glands set|uterine glands	http://purl.obolibrary.org/obo/UBERON_0012276		
UBERON:0012275	meso-epithelium	biolink:AnatomicalEntity	mondo			mesoderm-derived epithelium|mesoepithelium	http://purl.obolibrary.org/obo/UBERON_0012275	Epithelium that derives from the mesoderm. [Automatically generated definition].	
MONDO:0003672	posterior myocardial infarction	biolink:Disease	mondo	SCTID:194802003|DOID:5847|UMLS:C0264706		true posterior wall infarction|true posterior myocardial infarction	http://purl.obolibrary.org/obo/MONDO_0003672		SNOMEDCT:194802003|DOID:5847|UMLS:C0264706
UBERON:0036268	pelvic vein	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0036268		
MONDO:0015639	benign partial epilepsy with secondarily generalized seizures in infancy	biolink:Disease	mondo	Orphanet:166302|UMLS:CN226718|ICD10:G40.1	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015639	Benign partial epilepsy with secondarily generalized seizures in infancy is a rare infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring. They are followed by generalized tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalization in ictal EEG. Seizures usually occur in clusters and are responsive to treatment. Psychomotor development is normal.	UMLS:CN226718|ORPHA:166302
MONDO:0003673	apical myocardial infarction	biolink:Disease	mondo	DOID:5848			http://purl.obolibrary.org/obo/MONDO_0003673	An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the apex of the heart.	NCIT:C36073|DOID:5848
UBERON:0012274	columnar epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0012274	An epithelium that consists of columnar epithelial cells. Columnar epithelia are epithelial cells whose heights are at least four times their width. Columnar epithelia are divided into simple (or unilayered), and the rarer stratified (or multi-layered).[WP, modified]	
UBERON:0036267	vulval vein	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0036267		
MONDO:0001011	breast cyst	biolink:Disease	mondo	DOID:10350|SCTID:399294002|MESH:D047688|ICD10:N60.0|EFO:1000848		cyst of the breast	http://purl.obolibrary.org/obo/MONDO_0001011	A cystic lesion located in breast tissue.	NCIT:C5315|MESH:D047688|DOID:10350|SNOMEDCT:399294002
UBERON:0036269	penis blood vessel	biolink:AnatomicalEntity	mondo			vasculature of penis|penis vasculature	http://purl.obolibrary.org/obo/UBERON_0036269		
MONDO:0001010	obsolete natural killer cell leukemia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001010		
GO:0050839	cell adhesion molecule binding	biolink:OntologyClass	mondo			cell adhesion receptor activity|adhesive extracellular matrix constituent|cell adhesion molecule activity|CAM binding	http://purl.obolibrary.org/obo/GO_0050839	Interacting selectively and non-covalently with a cell adhesion molecule.	
NCBITaxon:203691	Spirochaetes	organism taxon	mondo	PMID:29458499|PMID:26654112|PMID:11837318|GC_ID:11		Spirochaetaeota|Spirochaetae|Spirochaetota	http://purl.obolibrary.org/obo/NCBITaxon_203691		
NCBITaxon:203692	Spirochaetia	organism taxon	mondo	GC_ID:11|PMID:25288668|PMID:26654112|PMID:11837318		Spirochaetes	http://purl.obolibrary.org/obo/NCBITaxon_203692		
UBERON:0012278	gland of nasal mucosa	biolink:AnatomicalEntity	mondo			glandulae nasales|nasal gland|glandula nasalis	http://purl.obolibrary.org/obo/UBERON_0012278	The nasal glands are the seromucous glands in the respiratory region of the nasal mucous membrane. The three major types of nasal glands are anterior serous glands, seromucous glands, and Bowman glands.	
MONDO:0015645	eating seizures	biolink:Disease	mondo	Orphanet:166418|UMLS:C0393725|ICD10:G40.8|SCTID:230450001	ordo_disease	eating reflex epilepsy|eating epilepsy	http://purl.obolibrary.org/obo/MONDO_0015645		UMLS:C0393725|SNOMEDCT:230450001|ORPHA:166418
MONDO:0015644	audiogenic seizures	biolink:Disease	mondo	ICD10:G40.8|SCTID:765216006|Orphanet:166415|UMLS:C0751791	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015644	Audiogenic seizures is a rare neurologic disease characterized by seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (e.g. musicogenic seizures, seizures triggered by the voice).	UMLS:C0751791|ORPHA:166415|SNOMEDCT:765216006
CHEBI:86327	antifungal drug	biolink:ChemicalSubstance	mondo			antifungal medication|antifungal medications|antifungal drugs|pharmaceutical fungicides|anti-fungal drug|anti-fungal medications|anti-fungal medication|anti-fungal drugs|pharmaceutical fungicide	http://purl.obolibrary.org/obo/CHEBI_86327	Any antifungal agent used to prevent or treat fungal infections in humans or animals.	
MONDO:0015643	photosensitive epilepsy	biolink:Disease	mondo	ICD9:345.80|ICD10:G40.8|SCTID:95208000|DOID:0060281|Orphanet:166409|OMIMPS:132100|GARD:0005648|UMLS:C0393720	ordo_disease|gard_rare	photogenic epilepsy|photoparoxysmal response|PSE	http://purl.obolibrary.org/obo/MONDO_0015643	An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights.	DOID:0060281|UMLS:C0393720|SNOMEDCT:95208000|ORPHA:166409
MONDO:0015642	benign partial infantile seizures	biolink:Disease	mondo	Orphanet:166311	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015642		ORPHA:166311
MONDO:0015649	micturation-induced seizures	biolink:Disease	mondo	Orphanet:166430|ICD10:G40.8|UMLS:CN200059	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015649	Micturition-induced seizures is a rare neurologic disease characterized by tonic posturing or clonic movements triggered by micturition, with bilateral or unilateral involvement of the extremities and with or without loss of consciousness. Developmental delay is reported in some cases.	ORPHA:166430|UMLS:CN200059
MONDO:0015648	startle epilepsy	biolink:Disease	mondo	ICD10:G40.8|Orphanet:166427|SCTID:763632004|UMLS:CN200058	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015648	Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability.	SNOMEDCT:763632004|ORPHA:166427|UMLS:CN200058
MONDO:0015647	thinking seizures	biolink:Disease	mondo	ICD10:G40.8|SCTID:763622006|Orphanet:166424|UMLS:CN200057	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015647	Thinking seizures is a rare neurologic disease characterized by seizures induced by specific cognitive tasks, such as calculation or solving arithmetic problems (e.g Sudoku puzzle), playing thinking games (e.g. Rubik's cube, chess, cards), thinking, making decisions and abstract reasoning. Idiopathic generalized seizures are mainly involved, but partial epilepsies may, in rare cases, be observed.	SNOMEDCT:763622006|ORPHA:166424|UMLS:CN200057
MONDO:0015646	orgasm-induced seizures	biolink:Disease	mondo	ICD10:G40.8|Orphanet:166421|UMLS:CN200056	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015646	Orgasm-induced seizures is a rare neurologic disease characterized by complex partial seizures with or without secondary generalization, or idiopathic primarily generalized epilepsy, triggered by sexual orgasm. Seizures usually start immediately, shortly after or a few hours after the achievement of orgasm, last a few seconds or minutes, and are followed, in very rare cases, by intense migraine.	ORPHA:166421|UMLS:CN200056
MONDO:0001009	solitary cyst of breast	biolink:Disease	mondo	DOID:10349|ICD10:N60.09|ICD9:610.0|ICD10:N60.0|COHD:78473|SCTID:266578003		solitary cyst of breast|solitary cyst of the breast	http://purl.obolibrary.org/obo/MONDO_0001009	A single, fluid-filled cyst in the breast parenchyma.	DOID:10349|NCIT:C3378|SNOMEDCT:266578003
MONDO:0015641	benign infantile focal epilepsy with midline spikes and wave during sleep	biolink:Disease	mondo	Orphanet:166308	ordo_disease	benign infantile focal epilepsy with midline spikes and waves during sleep|BIMSE	http://purl.obolibrary.org/obo/MONDO_0015641	Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region.	ORPHA:166308
MONDO:0015640	benign infantile seizures associated with mild gastroenteritis	biolink:Disease	mondo	Orphanet:166305|SCTID:765756007	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015640	Benign infantile seizures associated with mild gastroenteritis is a rare infantile epilepsy syndrome characterized by benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances. In most cases the seizures are tonic-clonic with focal origin on EEG, occur between day 1 and 6 following onset of acute gastroenteritis, cease within 24 hours and do not persist after the illness.	ORPHA:166305|SNOMEDCT:765756007
NCBITaxon:11593		organism taxon	mondo				http://purl.obolibrary.org/obo/NCBITaxon_11593		
MONDO:0003645	cavernous hemangioma of face	biolink:Disease	mondo	DOID:5776|NCIT:C7053|EFO:1000152|UMLS:C1332863|HP:0007486		cavernous hemangioma of face|cavernous hemangioma of the Face|face cavernous hemangioma	http://purl.obolibrary.org/obo/MONDO_0003645	A cavernous hemangioma arising from the face.	DOID:5776|UMLS:C1332863|NCIT:C7053
MONDO:0003646	rectum neuroendocrine neoplasm	biolink:Disease	mondo	DOID:5777|UMLS:C1335686|NCIT:C5698|Orphanet:100081		rectum NET|neuroendocrine tumor of rectum|rectal neuroendocrine neoplasm|rectum neuroendocrine tumor, well differentiated, low or intermediate grade|neuroendocrine neoplasm of rectum|rectum neuroendocrine tumor|NET of the rectum|rectum neuroendocrine neoplasm|rectum neuroendocrine tumor|rectal NET|neuroendocrine neoplasm of the rectum	http://purl.obolibrary.org/obo/MONDO_0003646	A neoplasm with neuroendocrine differentiation that arises from the rectum. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).	DOID:5777|NCIT:C5698|ORPHA:100081|UMLS:C1335686
MONDO:0003647	atrophic flaccid tympanic membrane	biolink:Disease	mondo	UMLS:C0155470|ICD9:384.81|DOID:5781|ICD10:H73.81|SCTID:38645004			http://purl.obolibrary.org/obo/MONDO_0003647		DOID:5781|UMLS:C0155470|SNOMEDCT:38645004
MONDO:0003648	tympanic membrane disease	biolink:Disease	mondo	ICD10:H73.9|UMLS:C0041825|SCTID:21426000|DOID:5782|ICD9:384.9|ICD10:H73.90		tympanic membrane disease or disorder|disease of tympanic membrane|disorder of tympanic membrane|disorder of tympanic membrane|tympanic membrane disease|disease or disorder of tympanic membrane	http://purl.obolibrary.org/obo/MONDO_0003648	A disease involving the tympanic membrane.	DOID:5782|SNOMEDCT:21426000|UMLS:C0041825
HGNC:7060	MGP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7060		
MONDO:0003641	central nervous system hematopoietic neoplasm	biolink:Disease	mondo	UMLS:C1332882|DOID:5772|NCIT:C5503		CNS hematopoietic neoplasm|CNS hematopoietic tumor|central nervous system hematopoietic neoplasm|hematopoietic and lymphoid system neoplasm of central nervous system|hematopoietic tumor of central nervous system|hematopoietic tumor of the central nervous system|central nervous system hematopoietic and lymphoid system neoplasm|lymphomas and hemopoietic neoplasms of the CNS|lymphomas and hemopoietic neoplasms of CNS|hematopoietic neoplasm of the central nervous system|hematopoietic neoplasm of the CNS|hematopoietic neoplasm of CNS|central nervous system hematopoietic tumor|central nervous system hematologic cancer|central nervous system hematopoietic neoplasms|hematopoietic neoplasm of central nervous system	http://purl.obolibrary.org/obo/MONDO_0003641	A primary or metastatic neoplasm of hematopoietic origin that affects the brain, meninges, or spinal cord. Representative examples include Hodgkin and non-Hodgkin lymphomas, histiocytic tumors, and leukemias.	NCIT:C5503|DOID:5772|UMLS:C1332882
MONDO:0003642	obsolete oral submucous fibrosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003642		
MONDO:0003643	giant hemangioma	biolink:Disease	mondo	DOID:5774|UMLS:C1333817|NCIT:C27777		giant hemangioma	http://purl.obolibrary.org/obo/MONDO_0003643	A cavernous hemangioma characterized by the presence of hylanized vascular channels and is often associated with the presence of calcifications, fibrosis, and hemorrhage.	NCIT:C27777|UMLS:C1333817|DOID:5774
MONDO:0003644	cavernous hemangioma of colon	biolink:Disease	mondo	UMLS:C1333086|DOID:5775|NCIT:C5395		colonic cavernous angioma|cavernous angioma of the colon|cavernous angioma of colon|colon cavernous hemangioma|colon cavernous angioma|cavernous hemangioma of the colon|cavernous hemangioma of colon|colonic cavernous hemangioma	http://purl.obolibrary.org/obo/MONDO_0003644	A cavernous hemangioma arising from the colon.	DOID:5775|NCIT:C5395|UMLS:C1333086
UBERON:0036274	tonsillar pillar	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0036274	The anterior and posterior borders of the tonsillar fossa. They are composed of muscle tissue.	
MONDO:0015629	von Willebrand disease type 2B	biolink:Disease	mondo	UMLS:C1282971|ICD10:D68.0|Orphanet:166087|SCTID:359717002|SCTID:359721009|NCIT:C131687	ordo_clinical_subtype	von Willebrand disease, type 2B|von Willebrand disease, type 2B	http://purl.obolibrary.org/obo/MONDO_0015629	Type 2B von Willebrand disease (type 2B VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with an increase in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets. This anomaly results in spontaneous binding of high molecular weight VWF multimers to platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and the high molecular weight VWF multimers from the plasma.	UMLS:C1282971|NCIT:C131687|SNOMEDCT:359721009|SNOMEDCT:359717002|ORPHA:166087
MONDO:0003640	verruciform xanthoma of skin	biolink:Disease	mondo	NCIT:C4478|SCTID:254756007|DOID:5769|ICD9:215.9|UMLS:C0346054		cutaneous verruciform xanthoma|verruciform xanthoma (morphologic abnormality)|verruciform xanthoma of the skin|skin verruciform xanthoma|verruciform xanthoma	http://purl.obolibrary.org/obo/MONDO_0003640	A rare, benign wart-like skin lesion of unknown etiology that is usually found in the genital or perianal area and consists of hyperkeratosis and aggregates of foam cell macrophages.	UMLS:C0346054|NCIT:C4478|SNOMEDCT:254756007|DOID:5769
MONDO:0015628	von Willebrand disease type 2A	biolink:Disease	mondo	ICD10:D68.0|NCIT:C131686|Orphanet:166084|UMLS:C1282968|SCTID:359714009	ordo_clinical_subtype	von Willebrand disease, type 2A|von Willebrand disease, type 2A	http://purl.obolibrary.org/obo/MONDO_0015628	Type 2A von Willebrand disease (type 2A VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers.	SNOMEDCT:359714009|UMLS:C1282968|NCIT:C131686|ORPHA:166084
MONDO:0015634	isolated osteopoikilosis	biolink:Disease	mondo	ICD10:Q78.8|Orphanet:166119	ordo_disease	isolated osteopoikilosis (disease)|nonsyndromic osteopoikilosis (disease)	http://purl.obolibrary.org/obo/MONDO_0015634	A osteopoikilosis (disease) that is not part of a larger syndrome.	ORPHA:166119
MONDO:0015633	Bazex syndrome	biolink:Disease	mondo	Orphanet:166113|SCTID:238640007|UMLS:C0406355|UMLS:CN200039|ICD9:757.39	ordo_disease	acrokeratosis paraneoplastica of Bazex|acrokeratosis of Bazex|acrokeratosis paraneoplastica	http://purl.obolibrary.org/obo/MONDO_0015633	Bazex syndrome is a rare paraneoplastic syndrome characterized by acral psoriasiform lesions.	UMLS:C0346104|ORPHA:166113|SNOMEDCT:238640007|UMLS:C0406355|UMLS:CN200039
MONDO:0015632	FASTKD2-related infantile mitochondrial encephalomyopathy	biolink:Disease	mondo	ICD10:G71.3|Orphanet:166105	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015632		ORPHA:166105
MONDO:0015631	von Willebrand disease type 2N	biolink:Disease	mondo	NCIT:C131689|SCTID:359732009|Orphanet:166093|ICD10:D68.0|UMLS:C1282975	ordo_clinical_subtype	von Willebrand disease Normandy variant|von Willebrand disease, type 2N|von Willebrand disease, type 2N	http://purl.obolibrary.org/obo/MONDO_0015631	Type 2N von Willebrand disease (type 2N VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for factor VIII (FVIII).	UMLS:C1282975|NCIT:C131689|ORPHA:166093|SNOMEDCT:359732009
MONDO:0015638	benign partial epilepsy of infancy with complex partial seizures	biolink:Disease	mondo	Orphanet:166299|ICD10:G40.2|UMLS:CN226717	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015638	Benign partial epilepsy of infancy with complex partial seizures is a rare infantile epilepsy syndrome characterized by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apneas, normal interictal EEG and focal, mostly temporal discharges in ictal EEG. Most often, seizures occur in clusters and have a good response to treatment. Psychomotor development is normal.	UMLS:CN226717|ORPHA:166299
MONDO:0015637	benign non-familial infantile seizures	biolink:Disease	mondo	ICD10:G40.4|Orphanet:166295|UMLS:CN226716	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015637		UMLS:CN226716|ORPHA:166295
MONDO:0015636	dirofilariasis	biolink:Disease	mondo	EFO:0007239|GARD:0011908|ICD9:125.6|DOID:1082|SCTID:73328005|ICD10:B74.8|MESH:D004184|UMLS:C0012602|Orphanet:166291	ordo_disease|gard_rare	infection by Dirofilaria|Dirofilaria disease or disorder|Dirofilaria infectious disease|Dirofilaria caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0015636	Infection with nematodes of the genus dirofilaria, usually in animals, especially dogs, but occasionally in humans.	UMLS:C0012602|DOID:1082|MESH:D004184|ORPHA:166291|SNOMEDCT:73328005
MONDO:0015635	porokeratotic eccrine ostial and dermal duct nevus	biolink:Disease	mondo	Orphanet:166286|ICD10:Q82.5|SCTID:239118007|UMLS:C0473579|NCIT:C4740	ordo_disease	Porokeratotic eccrine nevus|Porokeratotic eccrine duct and hair follicle Nevus|linear eccrine Nevus with comedones|comedo nevus of the palm	http://purl.obolibrary.org/obo/MONDO_0015635	A rare, congenital disorder of the eccrine sweat ducts that presents as grouped keratotic papules and plaques with a linear distribution and/or multiple punctate pits filled with tiny keratotic plugs resembling comedones. The lesion are usually located on the acral portion of a limb.	UMLS:C0473579|NCIT:C4740|ORPHA:166286|SNOMEDCT:239118007
MONDO:0015630	von Willebrand disease type 2M	biolink:Disease	mondo	SCTID:359725000|NCIT:C131688|ICD10:D68.0|Orphanet:166090|UMLS:C1282974|SCTID:359729006	ordo_clinical_subtype	von Willebrand disease, type 2M|von Willebrand disease, type 2M	http://purl.obolibrary.org/obo/MONDO_0015630	Type 2M von Willebrand disease (type 2M VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium in the absence of any deficiency of high molecular weight VWF multimers.	UMLS:C1282974|NCIT:C131688|ORPHA:166090|SNOMEDCT:359729006|SNOMEDCT:359725000
MONDO:0003638	lung meningioma	biolink:Disease	mondo	DOID:5764|NCIT:C5668|UMLS:C1334450		lung primary meningioma|lung meningioma (disease)|primary pulmonary meningioma|lung meningioma|meningioma of lung|meningioma (disease) of lung|meningioma of the lung|pulmonary meningioma	http://purl.obolibrary.org/obo/MONDO_0003638	A primary or metastatic meningioma that is present in the lung. The lung is the most frequent site of metastasis of meningiomas.	DOID:5764|NCIT:C5668|UMLS:C1334450
MONDO:0003639	lung hilum neoplasm	biolink:Disease	mondo	SCTID:126707007|DOID:5767|UMLS:C1290358|NCIT:C5671		hilar lung tumor|lung hilum tumor|lung hilum neoplasm|neoplasm of hilus of lung|hilar lung neoplasm|neoplasm of lung hilus|lung hilus tumor|lung hilus neoplasm|lung hilus neoplasm (disease)|tumor of lung hilus	http://purl.obolibrary.org/obo/MONDO_0003639	A benign or malignant neoplasm that arises from the hilar region of the lung.	DOID:5767|SNOMEDCT:126707007|NCIT:C5671|UMLS:C1290358
HGNC:7067	CIITA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7067		
HGNC:12472	UBE2A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12472		
MONDO:0003656	hemoglobinuria	biolink:Disease	mondo	ICD9:791.2|MESH:D006456|UMLS:C0019048|DOID:582|ICD10:R82.3			http://purl.obolibrary.org/obo/MONDO_0003656	A laboratory test result which indicates free hemoglobin in the urine.	UMLS:C0019048|MESH:D006456|DOID:582|NCIT:C34677
MONDO:0003657	obsolete methotrexate-associated lymphoproliferation	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003657		
MONDO:0003658	B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma	biolink:Disease	mondo	NCIT:C37869|UMLS:C1333878|ICDO:9596/3|GARD:0010897|DOID:5822	gard_rare	large B-cell lymphoma with Hodgkin features|B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and Classic Hodgkin lymphoma|Hodgkin-like anaplastic large cell lymphoma|Gray zone lymphoma|B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and classical Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0003658	A group of lymphomas displaying molecular, morphologic, immunophenotypic, and clinical overlap between classical Hodgkin lymphoma and diffuse large B-cell lymphoma. This term particularly applies to mediastinal lymphomas with overlapping features of mediastinal (thymic) large B-cell lymphoma and classical Hodgkin lymphoma.	DOID:5822|NCIT:C37869|UMLS:C1333878
MONDO:0003659	pediatric lymphoma	biolink:Disease	mondo	NCIT:C5165|UMLS:C1332979|DOID:5823		pediatric lymphoma|lymphoma|childhood lymphoma	http://purl.obolibrary.org/obo/MONDO_0003659	A Hodgkin or non-Hodgkin lymphoma that occurs during childhood.	DOID:5823|UMLS:C1332979|NCIT:C5165
ENVO:00000176	elevation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_00000176	A landform elevated above the surrounding area.	
MONDO:0003652	acute urate nephropathy	biolink:Disease	mondo	ICD9:583.9|UMLS:C0341712|COHD:80070|DOID:580|ICD9:274.11|SCTID:236496000|UMLS:C0403719|NCIT:C123037		uric acid urolithiasis|uric acid nephrolithiasis	http://purl.obolibrary.org/obo/MONDO_0003652	Urolithiasis in which the composition of the stones is predominantly urate.	UMLS:C0403719|UMLS:C0341712|NCIT:C123037|SNOMEDCT:236496000|DOID:580
NCBITaxon:11577	La Crosse virus	organism taxon	mondo	GC_ID:1		Bunyavirus la crosse	http://purl.obolibrary.org/obo/NCBITaxon_11577		
UBERON:0012251	ectocervical epithelium	biolink:AnatomicalEntity	mondo			exocervical epithelium	http://purl.obolibrary.org/obo/UBERON_0012251	A epithelium that is part of a ectocervix.	
UBERON:0012250	cervix glandular epithelium	biolink:AnatomicalEntity	mondo			cervix columnar epithelium	http://purl.obolibrary.org/obo/UBERON_0012250	A glandular epithelium that is part of a uterine cervix.	
MONDO:0003653	stork bite	biolink:Disease	mondo	DOID:5806|SCTID:254211001		Salmon patch nevus|Unna's nevus	http://purl.obolibrary.org/obo/MONDO_0003653		SNOMEDCT:254211001|DOID:5806
UBERON:0036286	wall of right ventricle	biolink:AnatomicalEntity	mondo			pared del ventrC-culo derecho@es|right ventricular wall	http://purl.obolibrary.org/obo/UBERON_0036286	Wall of ventricle which is continuous with the wall of pulmonary trunk.	
MONDO:0003654	childhood parosteal osteosarcoma	biolink:Disease	mondo	DOID:5809|NCIT:C6589|UMLS:C1332994		childhood parosteal osteosarcoma|childhood parosteal osteogenic sarcoma	http://purl.obolibrary.org/obo/MONDO_0003654	A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It occurs in childhood and usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. The prognosis is usually excellent.	NCIT:C6589|DOID:5809|UMLS:C1332994
MONDO:0003655	cerebral lymphoma	biolink:Disease	mondo	NCIT:C7611|DOID:5815|UMLS:C0240803|SCTID:276836002		primary lymphoma of cerebrum|brain primary lymphoma|primary lymphoma of the cerebrum|primary cerebral lymphoma|cerebral lymphoma|primary lymphoma, brain	http://purl.obolibrary.org/obo/MONDO_0003655	A non-Hodgkin or Hodgkin lymphoma that arises in the cerebral hemispheres as a primary lesion.	UMLS:C0240803|NCIT:C7611|SNOMEDCT:276836002|DOID:5815
UBERON:0036285	wall of left ventricle	biolink:AnatomicalEntity	mondo			pared del ventrC-culo izquierdo@es|left ventricular wall	http://purl.obolibrary.org/obo/UBERON_0036285	Wall of ventricle which is continuous with the wall of aorta.	
UBERON:0036288	anterior wall of left ventricle	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0036288		
UBERON:0012254	abdominal aorta artery	biolink:AnatomicalEntity	mondo			abdominal artery|artery of abdomen	http://purl.obolibrary.org/obo/UBERON_0012254	An artery that originates from the abdominal aorta	
MONDO:0015619	non-syndromic urogenital tract malformation	biolink:Disease	mondo	Orphanet:165704	ordo_group_of_disorders	nonsyndromic urogenital tract malformation|isolated urogenital tract malformation|isolated urogenital tract malformation	http://purl.obolibrary.org/obo/MONDO_0015619	A urogenital tract malformation that is not part of a larger syndrome.	ORPHA:165704
MONDO:0015618	obsolete genetic pancreatic disease	biolink:Disease	mondo	Orphanet:165661|UMLS:CN199994	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015618		ORPHA:165661|UMLS:CN199994
UBERON:0012253	cervical squamo-columnar junction	biolink:AnatomicalEntity	mondo			squamocolumnar junction of uterine cervix|squamocolumnar junction|squamo-columnar junction of uterine cervix	http://purl.obolibrary.org/obo/UBERON_0012253	Region of cervical epithelium where columnar epithelium of endocervic and the stratified non-keratinising squamous epithelium of the ectocervic meet	
MONDO:0003650	mixed hepatoblastoma	biolink:Disease	mondo	ICDO:8970/3|UMLS:C1334784|NCIT:C7097|DOID:5789		mixed epithelial and mesenchymal hepatoblastoma	http://purl.obolibrary.org/obo/MONDO_0003650	A hepatoblastoma characterized by the presence of fetal and embryonal epithelial components and a mesenchymal component.	UMLS:C1334784|DOID:5789|NCIT:C7097
MONDO:0003651	macrotrabecular hepatoblastoma	biolink:Disease	mondo	NCIT:C7095|UMLS:C1334543|DOID:5798			http://purl.obolibrary.org/obo/MONDO_0003651	A pure fetal or fetal and embryonal epithelial hepatoblastoma characterized by the presence of broad trabeculae.	UMLS:C1334543|DOID:5798|NCIT:C7095
MONDO:0015617	genetic gastro-esophageal disease	biolink:Disease	mondo	UMLS:CN199993|Orphanet:165658	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015617		ORPHA:165658|UMLS:CN199993
GO:1902600	proton transmembrane transport	biolink:OntologyClass	mondo			ATP hydrolysis coupled proton transport|hydrogen transport|hydrogen ion transport|hydrogen ion transmembrane transport|proton transmembrane transport|passive proton transport, down the electrochemical gradient|hydrogen transmembrane transport|proton transport	http://purl.obolibrary.org/obo/GO_1902600	The directed movement of a proton across a membrane.	
UBERON:0012252	endocervical epithelium	biolink:AnatomicalEntity	mondo			endocervical glandular epithelium	http://purl.obolibrary.org/obo/UBERON_0012252	The glandular epithelium that lines the endocervix.	
UBERON:0036289	anterior wall of right ventricle	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0036289	Region of wall of right ventricle which is continuous with the lateral and septal walls of right ventricle.	
HGNC:24464	CHST14	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24464		
MONDO:0015623	cavitary myiasis	biolink:Disease	mondo	SCTID:764811001|ICD10:B87.8|Orphanet:165958	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015623	Cavitary myiasis is a rare parasitic disease characterized by the infestation of natural body cavities (e.g. aural, nasal, oral, urogenital myiasis) and internal organs (e.g. cerebral myiasis, ophthalmomyiasis, intestinal and tracheopulmonary myiasis) with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (e.g. motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis.	ORPHA:165958|SNOMEDCT:764811001
MONDO:0015622	wound myiasis	biolink:Disease	mondo	UMLS:C0344061|ICD9:998.89|ICD10:B87.1|Orphanet:165955|SCTID:240880004	ordo_disease	traumatic myiasis	http://purl.obolibrary.org/obo/MONDO_0015622		ORPHA:165955|SNOMEDCT:240880004|UMLS:C0344061
MONDO:0015621	obsolete rare abdominal surgical disease	biolink:Disease	mondo	UMLS:CN199996|Orphanet:165711	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0015621		UMLS:CN199996|ORPHA:165711
MONDO:0015620	syndromic urogenital tract malformation	biolink:Disease	mondo	Orphanet:165707|UMLS:CN226715	ordo_group_of_disorders	syndrome associated with urogenital tract malformation|syndromic urogenital tract malformation|syndrome associated with urogenital tract malformation	http://purl.obolibrary.org/obo/MONDO_0015620	A urogenital tract malformation that is part of a larger syndrome.	ORPHA:165707|UMLS:CN226715
UBERON:0012249	ectocervix	biolink:AnatomicalEntity	mondo			ectocervix|portio vaginalis|portio vaginalis cervicis|exocervix|uterine ectocervix|vaginal part of cervix	http://purl.obolibrary.org/obo/UBERON_0012249	The part of the cervix uteri that protrudes into the vagina and is lined with stratified squamous epithelium.	
MONDO:0015627	multiple epiphyseal dysplasia due to collagen 9 anomaly	biolink:Disease	mondo	SCTID:766717008|Orphanet:166002|ICD10:Q77.3|DOID:0070305	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015627	Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.	SNOMEDCT:766717008|ORPHA:166002|DOID:0070305
MONDO:0015626	Charcot-Marie-Tooth disease	biolink:Disease	mondo	UMLS:C0007959|ICD9:356.1|GARD:0006034|MESH:D002607|DOID:10595|Orphanet:166|ICD10:G60.0|NCIT:C75467|MedDRA:10034699|OMIMPS:118220	ordo_group_of_disorders	CMT|CMT - Charcot-Marie-Tooth disease|Charcot Marie Tooth disease|hereditary sensorimotor neuropathy|peroneal muscular atrophy|Charcot-Marie-Tooth hereditary neuropathy|Charcot-Marie-Tooth disease/hereditary motor and sensory neuropathy|Charcot-Marie-Tooth disease|CMT/HMSN|hereditary motor and sensory neuropathy|Charcot Marie Tooth muscular atrophy	http://purl.obolibrary.org/obo/MONDO_0015626	An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs.	ORPHA:166|NCIT:C75467|MEDDRA:10034699|UMLS:C0007959|DOID:10595|MESH:D002607
MONDO:0015625	diazoxide-resistant diffuse hyperinsulinism	biolink:Disease	mondo	ICD10:E16.1|Orphanet:165988	ordo_group_of_disorders	hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form	http://purl.obolibrary.org/obo/MONDO_0015625	Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy.	ORPHA:165988
MONDO:0015624	diazoxide-sensitive diffuse hyperinsulinism	biolink:Disease	mondo	ICD10:E16.1|Orphanet:165985	ordo_group_of_disorders	hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form	http://purl.obolibrary.org/obo/MONDO_0015624		ORPHA:165985
MONDO:0003649	esophageal neuroendocrine tumor	biolink:Disease	mondo	UMLS:C1333462|UMLS:C2987260|NCIT:C95616|DOID:5784|Orphanet:506136	ordo_disease	esophagus neuroendocrine tumor|esophagus NET|neuroendocrine neoplasm of esophagus|esophageal NEN|esophageal well differentiated endocrine tumor|esophageal well differentiated endocrine tumor/carcinoma|esophageal neuroendocrine tumor|esophageal neuroendocrine neoplasm|esophageal NET|esophagus neuroendocrine tumor, well differentiated, low or intermediate grade|neuroendocrine neoplasm of esophagus|esophagus neuroendocrine tumor|esophagus neuroendocrine neoplasm|neuroendocrine tumor of esophagus|NEN of esophagus	http://purl.obolibrary.org/obo/MONDO_0003649	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the esophagus.	DOID:5784|UMLS:C2987260|ORPHA:506136|NCIT:C95616|UMLS:C1333462
NCBITaxon:11571		organism taxon	mondo				http://purl.obolibrary.org/obo/NCBITaxon_11571		
NCBITaxon:11572	Orthobunyavirus	organism taxon	mondo	GC_ID:1		Bunyavirus|Bunyaviruses	http://purl.obolibrary.org/obo/NCBITaxon_11572		
MONDO:0001048	orbital granuloma	biolink:Disease	mondo	ICD10:H05.11|UMLS:C0155262|SCTID:72776003|COHD:434953|ICD9:376.11|DOID:10499			http://purl.obolibrary.org/obo/MONDO_0001048	A granuloma located on the orbit of the eye.	DOID:10499|NCIT:C3653|SNOMEDCT:72776003|UMLS:C0155262
GO:0050863	regulation of T cell activation	biolink:OntologyClass	mondo			regulation of T-cell activation|regulation of T-lymphocyte activation|regulation of T lymphocyte activation	http://purl.obolibrary.org/obo/GO_0050863	Any process that modulates the frequency, rate or extent of T cell activation.	
MONDO:0001047	obsolete adrenal cortical hypofunction	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001047		
MONDO:0027676	congenital anomalies of kidney and urinary tract type 2	biolink:Disease	mondo	OMIM:143400|DOID:0080207		congenital anomaly of kidney and urinary tract caused by mutation in TBX18|ureteropelvic junction obstruction|hydronephrosis due to Pujo|congenital anomalies of kidney and urinary tract 2|congenital anomalies of kidney and urinary tract type 2|multicystic renal dysplasia, bilateral|congenital anomalies of kidney and urinary tract 2; CAKUT2|pelviureteric junction obstruction|TBX18 congenital anomaly of kidney and urinary tract|CAKUT2	http://purl.obolibrary.org/obo/MONDO_0027676	Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the TBX18 gene.	http://identifiers.org/omim/143400|DOID:0080207
MONDO:0001046	imperforate anus	biolink:Disease	mondo	SCTID:204731006|MESH:D001006|OMIM:301800|ICD10:Q42.3|GARD:0006769|OMIM:207500|DOID:10488|NCIT:C84784		imperforate anus|anal stenosis|anus, imperforate|anorectal malformations|congenital atresia of anus|anal atresia|congenital or infantile occlusion of anus	http://purl.obolibrary.org/obo/MONDO_0001046	A congenital birth defect characterized by the absence of a normal anal opening. It may be associated with other congenital abnormalities.	NCIT:C84784|http://identifiers.org/omim/301800|MESH:D001006|http://identifiers.org/omim/207500|DOID:10488|SNOMEDCT:204731006
NCBITaxon:482538	Cystoisospora belli	organism taxon	mondo	GC_ID:1		Isospora belli	http://purl.obolibrary.org/obo/NCBITaxon_482538		
MONDO:0001045	intestinal atresia (disease)	biolink:Disease	mondo	ICD10:Q41.1|NCIT:C84790|UMLS:C0021828|HP:0011100|DOID:10486		atresia of the intestine|intestinal atresia|congenital intestinal atresia	http://purl.obolibrary.org/obo/MONDO_0001045	A congenital malformation characterized by the absence of a normal opening in a part of the intestine. It can occur either in the small or the large intestine.	NCIT:C84790|UMLS:C0021828|DOID:10486
GO:0050866	negative regulation of cell activation	biolink:OntologyClass	mondo			down-regulation of cell activation|down regulation of cell activation|inhibition of cell activation|downregulation of cell activation	http://purl.obolibrary.org/obo/GO_0050866	Any process that stops, prevents, or reduces the frequency, rate or extent of cell activation.	
GO:0050867	positive regulation of cell activation	biolink:OntologyClass	mondo			activation of cell activation|stimulation of cell activation|upregulation of cell activation|up-regulation of cell activation|up regulation of cell activation	http://purl.obolibrary.org/obo/GO_0050867	Any process that activates or increases the frequency, rate or extent of activation.	
GO:0050864	regulation of B cell activation	biolink:OntologyClass	mondo			regulation of B lymphocyte activation|regulation of B-cell activation|regulation of B-lymphocyte activation	http://purl.obolibrary.org/obo/GO_0050864	Any process that modulates the frequency, rate or extent of B cell activation.	
MONDO:0001049	Dressler syndrome	biolink:Disease	mondo	ICD9:411.0|COHD:319038|UMLS:C0152107|DOID:10507|ICD10:I24.1|SCTID:66189004		Dressler syndrome|Dressler's syndrome|postmyocardial infarction syndrome	http://purl.obolibrary.org/obo/MONDO_0001049	A pericarditis characterized by inflammation, occurring after injury, located in pericardium.	DOID:10507|UMLS:C0152107|SNOMEDCT:66189004
GO:0050865	regulation of cell activation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0050865	Any process that modulates the frequency, rate or extent of cell activation, the change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand.	
MONDO:0001040	nasopharyngitis	biolink:Disease	mondo	ICD9:472.2|SCTID:47841006|ICD10:J31.1|ICD10:J00|COHD:441321|MESH:D009304|UMLS:C0155826|UMLS:C0027441|NCIT:C34837|DOID:10460		nasopharynx inflammation|inflammation of nasopharynx|chronic nasopharyngitis	http://purl.obolibrary.org/obo/MONDO_0001040	An inflammatory process that affects the nasopharynx.	UMLS:C0027441|SNOMEDCT:47841006|MESH:D009304|NCIT:C34837|UMLS:C0155826|DOID:10460
GO:0050868	negative regulation of T cell activation	biolink:OntologyClass	mondo			down-regulation of T cell activation|down regulation of T cell activation|inhibition of T cell activation|downregulation of T cell activation|negative regulation of T-lymphocyte activation|negative regulation of T lymphocyte activation|negative regulation of T-cell activation	http://purl.obolibrary.org/obo/GO_0050868	Any process that stops, prevents, or reduces the frequency, rate or extent of T cell activation.	
GO:0050869	negative regulation of B cell activation	biolink:OntologyClass	mondo			negative regulation of B-cell activation|down-regulation of B cell activation|down regulation of B cell activation|downregulation of B cell activation|inhibition of B cell activation|negative regulation of B-lymphocyte activation|negative regulation of B lymphocyte activation	http://purl.obolibrary.org/obo/GO_0050869	Any process that stops, prevents, or reduces the frequency, rate or extent of B cell activation.	
MONDO:0001044	esophageal atresia (disease)	biolink:Disease	mondo	SCTID:26179002|HP:0002032|MESH:D004933|GARD:0006381|ICD10:Q39.0|NCIT:C87072|DOID:10485|ICD9:750.3		imperforate esophagus|congenital esophageal atresia|congenital atresia of esophagus|esophageal atresia|congenital imperforate esophagus|oesophageal atresia	http://purl.obolibrary.org/obo/MONDO_0001044	A congenital abnormality of the esophagus in which the upper esophagus ends as a blind pouch and does not connect with the lower esophagus; it is often accompanied by a tracheoesophageal fistula. Signs and symptoms in a newborn with this abnormality include excessive salivation, choking, coughing, and the development of cyanosis and respiratory distress when fed.	MESH:D004933|NCIT:C87072|SNOMEDCT:26179002|DOID:10485
HGNC:24431	KRT75	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24431		
UBERON:0036215	anatomical surface region	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0036215	Material anatomical entity that forms the outermost boundary of an anatomical structure.	
UBERON:0036214	rectosigmoid junction	biolink:AnatomicalEntity	mondo			rectosigmoid region	http://purl.obolibrary.org/obo/UBERON_0036214	An anatomical junction that is between the sigmoid colon and rectum.	
MONDO:0001043	obsolete diaphragm disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001043		
MONDO:0001042	patellar tendinitis	biolink:Disease	mondo	ICD10:M76.50|DOID:10471|UMLS:C0158317|SCTID:37785001|ICD9:726.64|ICD10:M76.5		tendinitis of patella|patellar tendonitis|patella tendinitis	http://purl.obolibrary.org/obo/MONDO_0001042	A tendinitis that involves the patella.	SNOMEDCT:37785001|UMLS:C0158317|DOID:10471
MONDO:0025013	non-human primate disease	biolink:Disease	mondo	MESH:D018419|UMLS:C0242634		diseases, Primate|disease, Primate|Primate disease	http://purl.obolibrary.org/obo/MONDO_0025013	Diseases of animals within the order primates. This term includes diseases of Haplorhini and Strepsirhini.	UMLS:C0242634|MESH:D018419
UBERON:0036217	coelomic fluid	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0036217	A bodily fluid that is located in the coelom.	
MONDO:0001041	dentin caries	biolink:Disease	mondo	SCTID:442551007|ICD9:521.02|ICD10:K02.1|DOID:10461|UMLS:C0266846		compound dental caries|dental caries of dentine|dentin caries, NOS|dentine dental caries|dental caries extending into dentine	http://purl.obolibrary.org/obo/MONDO_0001041	A dental caries that involves the dentine.	UMLS:C0266846|SNOMEDCT:442551007|DOID:10461
MONDO:0013037	Giacheti syndrome	biolink:Disease	mondo	MESH:C567864|OMIM:612917|UMLS:C2752043		Marfanoid habitus and specific language and learning disabilities|Giacheti syndrome	http://purl.obolibrary.org/obo/MONDO_0013037		MESH:C567864|UMLS:C2752043|http://identifiers.org/omim/612917
MONDO:0015699	immunodeficiency due to a classical component pathway complement deficiency	biolink:Disease	mondo	Orphanet:169147|ICD10:D84.1	ordo_disease|clingen	immunodeficiency due to a C1, C4, or C2 component complement deficiency|immunodeficiency due to C1, C4, or C2 component complement deficiency|immunodeficiency due to an early component of complement deficiency	http://purl.obolibrary.org/obo/MONDO_0015699		ORPHA:169147
MONDO:0013038	CLOVES syndrome	biolink:Disease	mondo	GARD:0010939|SCTID:719475006|GARD:10939|OMIM:612918|MESH:C567863|DOID:0080351|ICD10:Q87.3|Orphanet:140944|UMLS:C2752042	ordo_malformation_syndrome	congenital lipomatous overgrowth, vascular malformations, and epidermal nevi|congenital lipomatous overgrowth, vascular malformations, Epidermal nevi, and skeletal/spinal abnormalities|congenital lipomatous overgrowth, vascular malformations, and EPIDERMAL nevi|CLOVES syndrome|congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome|congenital lipomatous overgrowth - vascular malformation - epidermal nevi|congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome|CLOVE syndrome	http://purl.obolibrary.org/obo/MONDO_0013038	CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi.	SNOMEDCT:719475006|DOID:0080351|ORPHA:140944|MESH:C567863|http://identifiers.org/omim/612918|UMLS:C2752042
MONDO:0013035	orofaciodigital syndrome XI	biolink:Disease	mondo	OMIM:612913|ICD10:Q87.0|GARD:0004118|SCTID:718681002|MESH:C557821|Orphanet:141000|DOID:0060381	gard_rare|ordo_malformation_syndrome	orofaciodigital syndrome XI|OFD11|orofaciodigital syndrome XI; OFD11|oral-facial-digital syndrome, Gabrielli type|OFD syndrome 11|orofaciodigital syndrome, Gabrielli type|oral-Facial-digital syndrome with skeletal anomalies|orofaciodigital syndrome type XI|Gabrielli syndrome|oral-facial-digital syndrome type 11|orofaciodigital syndrome 11|oral facial digital syndrome 11|Ofds 11|orofaciodigital syndrome type 11|oral-Facial-digital syndrome, type 11|oral facial digital syndrome type 11	http://purl.obolibrary.org/obo/MONDO_0013035	Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects.	MESH:C557821|UMLS:C2752048|http://identifiers.org/omim/612913|SNOMEDCT:718681002|DOID:0060381|ORPHA:141000
MONDO:0015698	transient hypogammaglobulinemia of infancy	biolink:Disease	mondo	MedDRA:10044388|UMLS:C0272238|Orphanet:169139|DOID:624|NCIT:C27071|ICD10:D80.7|ICD9:279.09|SCTID:88714009	ordo_disease	THI|transient hypogammaglobulinemia of infancy	http://purl.obolibrary.org/obo/MONDO_0015698	A rare, primary humoral immunodeficiency of childhood characterized by decreasing serum levels of immunoglobulin G (IgG) as maternal antibodies clear the circulation while serum levels of immunoglobulin A and immunoglobulin M remain normal or are slightly decreased. Diagnosis may be suspected after the age of six months when a child's own synthesis of IgG should accelerate but it must be confirmed retrospectively after normalization of all serum immunoglobulin levels is seen by ages 2-6. This disorder may be caused by inadequate activation of progenitor B cells, defective class-switching or may even represent a maturational variant. Typically, a normal response to protein antigens is found while there is a notably diminished response to viral and bacterial polysaccharide antigens. Clinical presentation may include recurrent infections especially those of the respiratory tract. Despite increased susceptibility to infection in childhood, this disorder is self-limited with minimal implications for a normal life span.	DOID:624|NCIT:C27071|ORPHA:169139|SNOMEDCT:88714009|MEDDRA:10044388|UMLS:C0272238
MONDO:0013036	Zechi-Ceide syndrome	biolink:Disease	mondo	ICD10:Q87.8|MESH:C567865|UMLS:C2752047|OMIM:612916|Orphanet:217017|GARD:0010582	gard_rare|ordo_malformation_syndrome	occipital atretic cephalocele, unusual facies and large feet|occipital atretic cephalocele, unusual facies, and large feet|Zechi-Ceide syndrome|Zechi Ceide syndrome|occipital atretic cephalocele-unusual facies-large feet syndrome	http://purl.obolibrary.org/obo/MONDO_0013036		MESH:C567865|http://identifiers.org/omim/612916|UMLS:C2752047|ORPHA:217017
MONDO:0015697	immunoglobulin heavy chain deficiency	biolink:Disease	mondo	UMLS:C0398692|ICD9:279.03|ICD10:D80.8|SCTID:234539005|Orphanet:169110	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015697		UMLS:C0398692|ORPHA:169110|SNOMEDCT:234539005
CL:0002585	retinal blood vessel endothelial cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002585	A blood vessel endothelial cell that is part of the retina.	
GO:2001233	regulation of apoptotic signaling pathway	biolink:OntologyClass	mondo			regulation of apoptotic signalling pathway	http://purl.obolibrary.org/obo/GO_2001233	Any process that modulates the frequency, rate or extent of apoptotic signaling pathway.	
GO:2001234	negative regulation of apoptotic signaling pathway	biolink:OntologyClass	mondo			negative regulation of apoptotic signalling pathway	http://purl.obolibrary.org/obo/GO_2001234	Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic signaling pathway.	
MONDO:0013039	3M syndrome 2	biolink:Disease	mondo	OMIM:612921|UMLS:C2752041|MESH:C567862		OBSL1 3-M syndrome|3M2|three M syndrome type 2|three M syndrome 2; 3M2|3M syndrome 2|three M syndrome 2|3-M syndrome caused by mutation in OBSL1	http://purl.obolibrary.org/obo/MONDO_0013039	Any 3-M syndrome in which the cause of the disease is a mutation in the OBSL1 gene.	MESH:C567862|UMLS:C2752041|http://identifiers.org/omim/612921
GO:2001235	positive regulation of apoptotic signaling pathway	biolink:OntologyClass	mondo			positive regulation of apoptotic signalling pathway	http://purl.obolibrary.org/obo/GO_2001235	Any process that activates or increases the frequency, rate or extent of apoptotic signaling pathway.	
NCBITaxon:47570	Schizotrypanum	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_47570		
MONDO:0015692	refractory anemia with excess blasts in transformation	biolink:Disease	mondo	UMLS:CN200189|ICDO:9984/3|Orphanet:168960|MedDRA:10038271|ICD9:238.73|UMLS:C0280028|NCIT:C27080|SCTID:110000005|ICD10:D46.3	ordo_disease	RAEB-t	http://purl.obolibrary.org/obo/MONDO_0015692	Refractory anemia with excess blasts in transformation (RAEB-T) is characterised by dysplastic features of the myeloid and usually erythroid progenitor cells in the bone marrow and an increased number of myeloblasts in the peripheral blood. The peripheral blood blast count ranges from 20% to 30%. RAEB-T used to be a subcategory of myelodysplastic syndromes in the past. Recently, the term has been eliminated from the WHO based classification of myelodysplastic syndromes. The reason is that the percentage of peripheral blood blasts required for the diagnosis of acute myeloid leukemia has been reduced to 20%. The elimination of the RAEB-T term by the WHO experts has created confusion and ongoing arguments. Currently, according to WHO classification, the vast majority of RAEB-T cases are best classified as acute leukemias (acute leukemias with multilineage dysplasia following myelodysplastic syndrome). A minority of cases are part of RAEB-2.	UMLS:CN200189|UMLS:C0280028|NCIT:C27080|SNOMEDCT:110000005|MEDDRA:10038271|ORPHA:168960
MONDO:0013030	dilated cardiomyopathy 1BB	biolink:Disease	mondo	MESH:C567877|DOID:0110458|UMLS:C2752072|ICD10:I42.0|OMIM:612877		cardiomyopathy, dilated, type 1Bb|CMD1BB|cardiomyopathy, dilated, 1BB; CMD1BB|familial isolated dilated cardiomyopathy caused by mutation in DSG2|cardiomyopathy, dilated, 1BB|dilated cardiomyopathy type 1BB|DSG2 familial isolated dilated cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0013030	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene.	MESH:C567877|http://identifiers.org/omim/612877|UMLS:C2752072|DOID:0110458
MONDO:0015691	hypereosinophilic syndrome	biolink:Disease	mondo	ICDO:9964/3|MESH:D017681|NCIT:C27038|DOID:999|ICD10:D72.1|SCTID:419455006|ICD10:D47.5|GARD:0002804|ICD9:288.3|UMLS:C1540912|Orphanet:168956|EFO:1001467|MedDRA:10048643	ordo_group_of_disorders	hypereosinophilic disorder|hypereosinophilic disease|eosinophilia|HES|eosinophilic leukocytosis|hypereosinophilic syndrome	http://purl.obolibrary.org/obo/MONDO_0015691	Hypereosinophilic syndrome (HES) constitutes a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia and/or tissue eosinophilia associated with a wide range of clinical manifestations reflecting eosinophil-induced tissue/organ damage.	MEDDRA:10048643|DOID:999|NCIT:C27038|SNOMEDCT:419455006|UMLS:C1540912|MESH:D017681|ORPHA:168956
GO:0098805		biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0098805		
MONDO:0015690	myeloid neoplasm associated with PDGFRB rearrangement	biolink:Disease	mondo	ICD10:D47.1|Orphanet:168950|SCTID:724642009	ordo_disease	myeloid/lymphoid neoplasm associated with PDGFRB rearrangement	http://purl.obolibrary.org/obo/MONDO_0015690	Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement is a rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss.	ORPHA:168950|UMLS:C3472621|SNOMEDCT:724642009
GO:0098802	plasma membrane signaling receptor complex	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0098802	Any protein complex that is part of the plasma membrane and which functions as a signaling receptor.	
GO:0098803	respiratory chain complex	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0098803	Any protein complex that is part of a respiratory chain.	
MONDO:0015696	Good syndrome	biolink:Disease	mondo	DOID:0060028|Orphanet:169105|GARD:0008622|UMLS:C0221027|SCTID:9893005	ordo_disease	thymoma with hypogammaglobulinemia|thymoma-immunodeficiency|immunodeficiency with thymoma|thymoma-immunodeficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0015696	Good syndrome, also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections.	UMLS:C0221027|SNOMEDCT:9893005|DOID:0060028|ORPHA:169105
MONDO:0013033	cerebral palsy, spastic quadriplegic, 2	biolink:Disease	mondo	OMIM:612900|MESH:C567867|UMLS:C2752061		cerebral palsy, spastic quadriplegic, 2|KANK1 spastic quadriplegia|cerebral palsy, spastic quadriplegic, 2; CPSQ2|CPSQ2|spastic quadriplegia caused by mutation in KANK1|cerebral palsy, spastic quadriplegic, type 2	http://purl.obolibrary.org/obo/MONDO_0013033	Any spastic quadriplegia in which the cause of the disease is a mutation in the KANK1 gene.	MESH:C567867|http://identifiers.org/omim/612900|UMLS:C2752061
GO:0098800	inner mitochondrial membrane protein complex	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0098800	Any protein complex that is part of the inner mitochondrial membrane.	
MONDO:0013034	keratosis palmoplantaris striata 2	biolink:Disease	mondo	MESH:C565102|UMLS:C1852127|OMIM:612908		keratosis palmoplantaris striata II; PPKS2|striate palmoplantar keratoderma 2|DSP striate palmoplantar keratoderma|keratosis palmoplantaris striata II|keratoderma, palmoplantar, striate form 2|striate palmoplantar keratoderma caused by mutation in DSP|PPKS2|keratosis palmoplantaris striata type 2	http://purl.obolibrary.org/obo/MONDO_0013034	Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the DSP gene.	MESH:C565102|http://identifiers.org/omim/612908|UMLS:C1852127
MONDO:0015695	combined immunodeficiency due to CRAC channel dysfunction	biolink:Disease	mondo	Orphanet:169090|SCTID:717811007|ICD10:D81.8	ordo_disease	immune dysfunction due to T-cell inactivation due to calcium entry defect	http://purl.obolibrary.org/obo/MONDO_0015695	Combined immunodeficiency (CID) due to Ca2+ release activated Ca2+(CRAC) channel dysfunction is a form of CID characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency.	SNOMEDCT:717811007|ORPHA:169090
GO:0098801	regulation of renal system process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0098801	Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by the renal system.	
MONDO:0015694	malignant melanoma of the mucosa	biolink:Disease	mondo	Orphanet:168999|UMLS:CN200193|GARD:0012649	ordo_disease	melanoma (disease) of mucosa|mucosa melanoma|mucosa melanoma (disease)	http://purl.obolibrary.org/obo/MONDO_0015694	A melanoma (disease) that involves the mucosa.	UMLS:CN200193|ORPHA:168999
MONDO:0013031	chromosome 5Q14.3 deletion syndrome, distal	biolink:Disease	mondo	UMLS:C2752071|MESH:C567876|OMIM:612881		chromosome 5Q14.3 deletion syndrome, distal|periventricular nodular heterotopia 5|heterotopia, periventricular, associated with chromosome 5Q deletion	http://purl.obolibrary.org/obo/MONDO_0013031		MESH:C567876|http://identifiers.org/omim/612881|UMLS:C2752071
MONDO:0015693	obsolete composite lymphoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015693		
MONDO:0013032	epilepsy, idiopathic generalized, susceptibility to, 8	biolink:Disease	mondo	OMIM:612899|DOID:0111322	predisposition	susceptibility to idiopathic generalized epilepsy 8|epilepsy, idiopathic generalized, susceptibility to, type 8|epilepsy, idiopathic generalized, susceptibility to, 8; EIG8|EIG8|CASR generalised epilepsy|generalised epilepsy caused by mutation in CASR|epilepsy, idiopathic generalized, susceptibility to, 8	http://purl.obolibrary.org/obo/MONDO_0013032	Any generalised epilepsy in which the cause of the disease is a mutation in the CASR gene.	DOID:0111322|http://identifiers.org/omim/612899
HGNC:12450	TYRP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12450		
MONDO:0001059	gastric lymphoma	biolink:Disease	mondo	NCIT:C4636|ICD9:202.83|SCTID:276811008|DOID:10540|UMLS:C0349532		lymphoma of stomach|lymphoma of the stomach|gastric lymphoma|primary gastric lymphoma|stomach lymphoma	http://purl.obolibrary.org/obo/MONDO_0001059	An extranodal lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue.	NCIT:C4636|UMLS:C0349532|SNOMEDCT:276811008|DOID:10540
MONDO:0001058	obsolete gastric fundus cancer	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001058		
MONDO:0025003	goat disease	biolink:Disease	mondo	UMLS:C0018018|MESH:D015511		disease, caprine|caprine disease|goat disease|disease, goat|caprine diseases|diseases, goat|diseases, caprine	http://purl.obolibrary.org/obo/MONDO_0025003	Diseases of the domestic or wild goat of the genus Capra.	MESH:D015511|UMLS:C0018018
MONDO:0001057	malignant gastric granular cell tumor	biolink:Disease	mondo	NCIT:C5484|DOID:10536|UMLS:C1334585		malignant granular cell neoplasm of stomach|malignant granular cell stomach tumor|malignant gastric granular cell neoplasm|malignant gastric granular cell tumor|malignant granular cell stomach neoplasm|malignant granular cell tumor of the stomach|malignant granular cell tumor of stomach|malignant granular cell neoplasm of the stomach	http://purl.obolibrary.org/obo/MONDO_0001057	A metastasizing granular cell tumor that arises from the stomach.	UMLS:C1334585|NCIT:C5484|DOID:10536
GO:0050871	positive regulation of B cell activation	biolink:OntologyClass	mondo			positive regulation of B-lymphocyte activation|up-regulation of B cell activation|positive regulation of B lymphocyte activation|positive regulation of B-cell activation|up regulation of B cell activation|activation of B cell activation|stimulation of B cell activation|upregulation of B cell activation	http://purl.obolibrary.org/obo/GO_0050871	Any process that activates or increases the frequency, rate or extent of B cell activation.	
MONDO:0001056	gastric cancer	biolink:Disease	mondo	DC:0000523|ICD10:C16|ICD10:C16.9|ICD9:151|OMIM:613659|GARD:0007704|NCIT:C9331|ICD10:C16.6|DOID:10534|ICD10:C16.5|ICD9:151.9|COHD:443387|ICD10:C16.2|ICD9:151.6|ICD9:151.5|ICD9:151.4		malignant tumor of body of stomach|malignant tumor of the stomach|gastric neoplasm|malignant tumor of stomach|malignant tumor of lesser curve of stomach|malignant gastric tumor|malignant neoplasm of body of stomach|gastric cancer|gastric cancer, intestinal|stomach cancer|Ca body - stomach|malignant tumor of greater curve of stomach|ca greater curvature of stomach|Ca lesser curvature - stomach|malignant stomach neoplasm|malignant neoplasm of stomach|malignant gastric neoplasm|malignant neoplasm of the stomach|malignant neoplasm of lesser curve of stomach|cancer of stomach	http://purl.obolibrary.org/obo/MONDO_0001056	A primary or metastatic malignant neoplasm involving the stomach.	http://identifiers.org/omim/613659|NCIT:C9331|DOID:10534
GO:0050877	nervous system process	biolink:OntologyClass	mondo			neurophysiological process|neurological system process|pan-neural process	http://purl.obolibrary.org/obo/GO_0050877	A organ system process carried out by any of the organs or tissues of neurological system.	
GO:0050878	regulation of body fluid levels	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0050878	Any process that modulates the levels of body fluids.	
HGNC:7095	MID1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7095		
MONDO:0001051	acute otitis externa	biolink:Disease	mondo	SCTID:30250000|DOID:10518|UMLS:C0149948|ICD9:380.12|MEDGEN:508459		beach ear|acute otitis externa, diffuse|acute swimmer's ear|acute swimmers' ear|acute otitis externa|tank ear|acute bacterial inflammation of external ear|otitis externa, acute	http://purl.obolibrary.org/obo/MONDO_0001051	Acute form of otitis externa.	SNOMEDCT:30250000|DOID:10518|UMLS:C0149948
NCBITaxon:1639	Listeria monocytogenes	organism taxon	mondo	GC_ID:11|PMID:8782698|PMID:1906732|PMID:17773427		Corynebacterium infantisepticum|Bacterium monocytogenes hominis|Listerella hepatolytica|Bacterium monocytogenes|Erysipelothrix monocytogenes|Corynebacterium parvulum	http://purl.obolibrary.org/obo/NCBITaxon_1639		
GO:1902623	negative regulation of neutrophil migration	biolink:OntologyClass	mondo			down regulation of neutrophil migration|inhibition of neutrophil migration|down-regulation of neutrophil migration|downregulation of neutrophil migration	http://purl.obolibrary.org/obo/GO_1902623	Any process that stops, prevents or reduces the frequency, rate or extent of neutrophil migration.	
MONDO:0001050	malignant otitis externa	biolink:Disease	mondo	DOID:10516|ICD9:380.14|SCTID:94146005|UMLS:C0155395|ICD10:H60.20|ICD10:H60.2|COHD:437881			http://purl.obolibrary.org/obo/MONDO_0001050	An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes.	UMLS:C0155395|DOID:10516|SNOMEDCT:94146005
GO:1902624	positive regulation of neutrophil migration	biolink:OntologyClass	mondo			upregulation of neutrophil migration|up regulation of neutrophil migration|activation of neutrophil migration|up-regulation of neutrophil migration	http://purl.obolibrary.org/obo/GO_1902624	Any process that activates or increases the frequency, rate or extent of neutrophil migration.	
GO:1902622	regulation of neutrophil migration	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1902622	Any process that modulates the frequency, rate or extent of neutrophil migration.	
MONDO:0001055	conjunctival pterygium	biolink:Disease	mondo	DOID:10526		web eye	http://purl.obolibrary.org/obo/MONDO_0001055		DOID:10526
MONDO:0001054	double pterygium	biolink:Disease	mondo	DOID:10525|SCTID:41564009|ICD9:372.44|UMLS:C0155157|COHD:375549			http://purl.obolibrary.org/obo/MONDO_0001054		UMLS:C0155157|SNOMEDCT:41564009|DOID:10525
UBERON:0036225	respiratory system gland	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0036225	Any gland that is part os the respiratory system.	
NCBITaxon:1637	Listeria	organism taxon	mondo	PMID:8782674|PMID:1713054|PMID:15709360|PMID:9226919|PMID:9542083|PMID:1899799|PMID:10408878|PMID:8427807|GC_ID:11		Listerella	http://purl.obolibrary.org/obo/NCBITaxon_1637		
MONDO:0001053	acute infection of pinna	biolink:Disease	mondo	UMLS:C0155392|DOID:10520|COHD:374947|ICD9:380.11|SCTID:56663002			http://purl.obolibrary.org/obo/MONDO_0001053	An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species.	UMLS:C0155392|DOID:10520|SNOMEDCT:56663002
MONDO:0001052	chronic fungal otitis externa	biolink:Disease	mondo	COHD:373200|ICD9:380.15|UMLS:C0155396|SCTID:111898002|DOID:10519		chronic mycotic otitis externa|otomycosis, chronic|chronic otomycosis	http://purl.obolibrary.org/obo/MONDO_0001052	Chronic form of otomycosis.	UMLS:C0155396|SNOMEDCT:111898002|DOID:10519
MONDO:0015689	myeloid neoplasm associated with PDGFRA rearrangement	biolink:Disease	mondo	Orphanet:168947|SCTID:738527001|ICD10:D47.1|UMLS:C4545381	ordo_disease	myeloid/lymphoid neoplasm associated with PDGFRA rearrangement	http://purl.obolibrary.org/obo/MONDO_0015689	Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement is a rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy.	ORPHA:168947|SNOMEDCT:738527001|UMLS:C4545381
MONDO:0013026	subepithelial mucinous corneal dystrophy	biolink:Disease	mondo	MESH:C567547|ICD10:H18.5|DOID:0060454|UMLS:C2748503|Orphanet:98959|SCTID:723582004|OMIM:612867	ordo_disease	SMCD|subepithelial mucinous corneal dystrophy|corneal dystrophy, subepithelial mucinous; SMCD|corneal dystrophy, subepithelial mucinous	http://purl.obolibrary.org/obo/MONDO_0013026	Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision.	SNOMEDCT:723582004|MESH:C567547|http://identifiers.org/omim/612867|ORPHA:98959|UMLS:C2748503|DOID:0060454
MONDO:0013027	posterior amorphous corneal dystrophy	biolink:Disease	mondo	OMIM:612868|UMLS:C2748502|MESH:C567546|Orphanet:98971|SCTID:719296002|DOID:0060452|ICD10:H18.5	ordo_disease	corneal dystrophy, POSTERIOR amorphous|corneal dystrophy, POSTERIOR amorphous; PACD|PACD|posterior amorphous corneal dystrophy|posterior amorphous stromal dystrophy|chromosome 12Q21.33 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0013027	Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision.	MESH:C567546|http://identifiers.org/omim/612868|ORPHA:98971|UMLS:C2748502|DOID:0060452|SNOMEDCT:719296002
MONDO:0015688	myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2	biolink:Disease	mondo	Orphanet:168943	ordo_group_of_disorders	myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2	http://purl.obolibrary.org/obo/MONDO_0015688		ORPHA:168943
MONDO:0013024	chronic thromboembolic pulmonary hypertension	biolink:Disease	mondo	Orphanet:70591|ICD9:415.19|ICD9:416.8|OMIM:612862|GARD:0013124|UMLS:C2363973|MedDRA:10068739|SCTID:233947005	ordo_disease|gard_rare	CTEPH|Cteph, Dvt-negative, susceptibility to|pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0013024	Chronic thromboembolic pulmonary hypertension (CTEPH) is characterized by the persistence of thromboemboli in the form of organized tissue obstructing the pulmonary arteries. The consequence is an increase in pulmonary vascular resistance (PVR) resulting in pulmonary hypertension (PH) and progressive right heart failure.	MEDDRA:10068739|SNOMEDCT:233947005|UMLS:C2363973|http://identifiers.org/omim/612862|ORPHA:70591
MONDO:0015687	chronic eosinophilic leukemia	biolink:Disease	mondo	UMLS:C0346421|MESH:C580364|DOID:0080367|Orphanet:168940|ICD10:D47.5|SCTID:188733003|MedDRA:10065854	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015687		ORPHA:168940|UMLS:C0346421|DOID:0080367|MEDDRA:10065854|SNOMEDCT:188733003|MESH:C580364
CL:0002597	smooth muscle cell of bladder	biolink:Cell	mondo	KUPO:0001122			http://purl.obolibrary.org/obo/CL_0002597	A smooth muscle cell of the bladder.	
MONDO:0015686	primary peritoneal carcinoma (disease)	biolink:Disease	mondo	HP:0030406|NCIT:C40022|ICD10:C48.2|UMLS:CN200184|Orphanet:168829	ordo_disease	EOPPC|primary peritoneal carcinoma|primary peritoneal cancer|PPC|serous surface papillary carcinoma|Extra-ovarian primary peritoneal carcinoma|primary peritoneal serous carcinoma	http://purl.obolibrary.org/obo/MONDO_0015686	Primary peritoneal carcinoma (PPC) is a rare malignant tumor of the peritoneal cavity of extra-ovarian origin, clinically and histologically similar to advanced-stage serous ovarian carcinoma.	ORPHA:168829|NCIT:C40022|UMLS:CN200184
MONDO:0013025	chromosome 6q24-q25 deletion syndrome	biolink:Disease	mondo	Orphanet:251056|UMLS:C3150215|NCIT:C36470|ICD10:Q93.5|DOID:0060424|SCTID:719663005|OMIM:612863|UMLS:C4304527|GARD:0003764	ordo_malformation_syndrome	chromosome 6q25 microdeletion syndrome|monosomy 6q25|del(6q25)|chromosome 6q24-q25 deletion syndrome|6q25 microdeletion syndrome|Del(6)(q25)|deletion 6q25	http://purl.obolibrary.org/obo/MONDO_0013025	6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.	NCIT:C36470|http://identifiers.org/omim/612863|UMLS:C4304527|UMLS:C3150215|ORPHA:251056|DOID:0060424|SNOMEDCT:719663005
CL:0002598	bronchial smooth muscle cell	biolink:Cell	mondo	BTO:0004402			http://purl.obolibrary.org/obo/CL_0002598		
MONDO:0013028	adenosine monophosphate deaminase deficiency	biolink:Disease	mondo	ICD10:G71.3|SCTID:9105005|Orphanet:45|ICD9:277.2|MESH:C538234	ordo_disease	myoadenylate deaminase deficiency|AMP deaminase deficiency	http://purl.obolibrary.org/obo/MONDO_0013028	Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue.	SNOMEDCT:9105005|ORPHA:45|UMLS:C2931781|UMLS:C0268123|MESH:C538234
MONDO:0013029	cerebellar ataxia type 9	biolink:Disease	mondo	GARD:0010481|UMLS:C3887996|OMIM:612876|DOID:0111747		cerebellar ataxia type 9|spinocerebellar ataxia 9; SCA9|spinocerebellar ataxia type 9|spinocerebellar ataxia 9|SCA9	http://purl.obolibrary.org/obo/MONDO_0013029		http://identifiers.org/omim/612876|UMLS:C3887996|DOID:0111747
HGNC:12469	UBA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12469		
GO:0098815	modulation of excitatory postsynaptic potential	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0098815	Any process that modulates the frequency, rate or extent of excitatory postsynaptic potential (EPSP). EPSP is a process that leads to a temporary increase in postsynaptic potential due to the flow of positively charged ions into the postsynaptic cell. The flow of ions that causes an EPSP is an excitatory postsynaptic current (EPSC) and makes it easier for the neuron to fire an action potential.	
MONDO:0015681	childhood disintegrative disorder	biolink:Disease	mondo	ICD10:F84.3|GARD:0006040|NCIT:C97164|UMLS:CN072151|COHD:441535|MedDRA:10008522|SCTID:71961003|Orphanet:168782|UMLS:C0236791	gard_rare|ordo_disease	dementia infantilis|heller syndrome	http://purl.obolibrary.org/obo/MONDO_0015681	Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia.	UMLS:CN072151|UMLS:C0236791|SNOMEDCT:71961003|NCIT:C97164|ORPHA:168782|MEDDRA:10008522
HGNC:7097	MIF	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7097		
MONDO:0015680	obsolete rare pervasive developmental disorder	biolink:Disease	mondo	Orphanet:168778	ordo_group_of_disorders|obsoletion_candidate	rare ASD|rare PDD|rare autism spectrum disorder|rare pervasive developmental disorder	http://purl.obolibrary.org/obo/MONDO_0015680	Rare pervasive developmental disorder.	ORPHA:168778
HGNC:7096	MID2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7096		
GO:0098813	nuclear chromosome segregation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0098813	The process in which genetic material, in the form of nuclear chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. Nuclear chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles.	
MONDO:0015685	obsolete peritoneal cystic mesothelioma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015685		
MONDO:0013022	restless legs syndrome, susceptibility to, 7	biolink:Disease	mondo	OMIM:612853	predisposition	restless legs syndrome, susceptibility to, 7|RLS7|restless legs syndrome, susceptibility to, 7; RLS7	http://purl.obolibrary.org/obo/MONDO_0013022		http://identifiers.org/omim/612853
GO:0050870	positive regulation of T cell activation	biolink:OntologyClass	mondo			positive regulation of T-lymphocyte activation|up-regulation of T cell activation|positive regulation of T lymphocyte activation|positive regulation of T-cell activation|up regulation of T cell activation|activation of T cell activation|stimulation of T cell activation|upregulation of T cell activation	http://purl.obolibrary.org/obo/GO_0050870	Any process that activates or increases the frequency, rate or extent of T cell activation.	
MONDO:0015684	obsolete malignant peritoneal mesothelioma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015684		
MONDO:0013023	orofacial cleft 12	biolink:Disease	mondo	DOID:0080405|OMIM:612858|MESH:C567548|UMLS:C2748505		cleft lip with or without cleft palate, nonsyndromic, 12|orofacial cleft 12|OFC12|orofacial cleft 12; OFC12	http://purl.obolibrary.org/obo/MONDO_0013023		MESH:C567548|DOID:0080405|http://identifiers.org/omim/612858|UMLS:C2748505
GO:0035295	tube development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0035295	The process whose specific outcome is the progression of a tube over time, from its initial formation to a mature structure. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues including lung and trachea, kidney, the mammary gland, the vascular system and the gastrointestinal and urinary-genital tracts.	
HGNC:12463	UBB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12463		
GO:0035296	regulation of tube diameter	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0035296	Any process that modulates the diameter of a tube.	
MONDO:0015683	primary malignant peritoneal tumor	biolink:Disease	mondo	ICD10:C48.2|ICD10:C48.1|Orphanet:168807|ICD10:C45.1|UMLS:CN200181	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015683		UMLS:CN200181|ORPHA:168807
MONDO:0013020	narcolepsy 5, susceptibility to	biolink:Disease	mondo	OMIM:612851|UMLS:C2748508	predisposition	narcolepsy 5, susceptibility to; NRCLP5|NRCLP5|narcolepsy 5, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0013020		http://identifiers.org/omim/612851|UMLS:C2748508
MONDO:0015682	primary peritoneal tumor	biolink:Disease	mondo	Orphanet:168803|UMLS:CN200180	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015682		UMLS:CN200180|ORPHA:168803
MONDO:0013021	sterile multifocal osteomyelitis with periostitis and pustulosis	biolink:Disease	mondo	OMIM:612852|MESH:C557815|GARD:0010516|UMLS:C2748507|Orphanet:210115|NCIT:C119056	ordo_disease	deficiency of the Interleukin-1 receptor antagonist|DIRA|osteomyelitis, STERILE multifocal, with periostitis and pustulosis|deficiency of interleukin-1 receptor antagonist|autoinflammatory disease due to interleukin-1 receptor antagonist deficiency|Interleukin-1 receptor antagonist deficiency|Interleukin 1 receptor antagonist deficiency|osteomyelitis, STERILE multifocal, with periostitis and pustulosis; OMPP|OMPP	http://purl.obolibrary.org/obo/MONDO_0013021	An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis.	MESH:C557815|http://identifiers.org/omim/612852|UMLS:C2748507|ORPHA:210115|NCIT:C119056
GO:0050884	neuromuscular process controlling posture	biolink:OntologyClass	mondo			regulation of posture	http://purl.obolibrary.org/obo/GO_0050884	Any process in which an organism voluntarily modulates its posture, the alignment of its anatomical parts.	
MONDO:0003689	familial hemolytic anemia	biolink:Disease	mondo	MESH:D000745|GARD:0006167|NCIT:C34379|SCTID:42601008|COHD:28396|ICD9:282|ICD10:D58.9|ICD9:282.9|DOID:589	gard_rare	anemia hemolytic congenital|hereditary hemolytic anemia|congenital hemolytic anemia	http://purl.obolibrary.org/obo/MONDO_0003689	A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies.	SNOMEDCT:42601008|NCIT:C34379|DOID:589|MESH:D000745
MONDO:0001026	obsolete bacterial infectious disease	biolink:Disease	mondo			infections, Bacteria|Bacteria infection	http://purl.obolibrary.org/obo/MONDO_0001026	A infectious disease involving the Bacteria.	
MONDO:0001025	seminal vesicle chronic gonorrhea	biolink:Disease	mondo	DOID:10399|UMLS:C0153205|SCTID:23975003|ICD9:098.34		gonococcal seminal vesiculitis, chronic|chronic gonococcal seminal vesiculitis	http://purl.obolibrary.org/obo/MONDO_0001025	Chronic form of gonococcal seminal vesiculitis.	DOID:10399|UMLS:C0153205|SNOMEDCT:23975003
GO:0050885	neuromuscular process controlling balance	biolink:OntologyClass	mondo			regulation of balance	http://purl.obolibrary.org/obo/GO_0050885	Any process that an organism uses to control its balance, the orientation of the organism (or the head of the organism) in relation to the source of gravity. In humans and animals, balance is perceived through visual cues, the labyrinth system of the inner ears and information from skin pressure receptors and muscle and joint receptors.	
MONDO:0001024	pneumonic plague	biolink:Disease	mondo	DOID:10398|UMLS:C0524688|SCTID:35339003|ICD9:020.3|ICD9:020.5|ICD9:020.4|ICD10:A20.2		primary pneumonic plague|secondary pneumonic plague	http://purl.obolibrary.org/obo/MONDO_0001024	A plague in which the bacteria have infected the lungs.	DOID:10398|UMLS:C0524688|SNOMEDCT:35339003
MONDO:0001023	prolymphocytic leukemia	biolink:Disease	mondo	ICDO:9832/3|NCIT:C3181|MESH:D015463|ICD9:204.80|SCTID:110006004|GARD:0011965|DOID:1039|UMLS:C0023486		PLL|prolymphocytic leukemia (B or T-cell)|prolymphocytic leukemia (B or T)|prolymphocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0001023	A mature B- or T- cell leukemia with progressive clinical course. It is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen.	NCIT:C3181|MESH:D015463|SNOMEDCT:110006004|UMLS:C0023486|DOID:1039
MONDO:0003685	retroperitoneal germ cell neoplasm	biolink:Disease	mondo	NCIT:C6447|DOID:5874|UMLS:C1335776		germ cell tumor of retroperitoneum|retroperitoneal germ cell tumor|germ cell neoplasm of the retroperitoneum|germ cell neoplasm of retroperitoneum|germ cell tumor of the retroperitoneum	http://purl.obolibrary.org/obo/MONDO_0003685	A germ cell tumor that involves the retroperitoneal space.	UMLS:C1335776|DOID:5874|NCIT:C6447
MONDO:0003686	apocrine sweat gland neoplasm	biolink:Disease	mondo	NCIT:C6798|UMLS:C1332318|DOID:5876		neoplasm of apocrine sweat gland|apocrine sweat gland neoplasm (disease)|apocrine sweat gland tumor|apocrine tumor|apocrine neoplasm of skin|apocrine skin neoplasm|apocrine skin tumor|apocrine neoplasm of the skin|tumor of apocrine sweat gland|apocrine tumor of skin|apocrine neoplasm|apocrine tumor of the skin	http://purl.obolibrary.org/obo/MONDO_0003686	A benign or malignant sweat gland neoplasm with apocrine differentiation. Representative examples include apocrine adenoma, ceruminous adenocarcinoma, and apocrine breast carcinoma.	UMLS:C1332318|DOID:5876|NCIT:C6798
MONDO:0001029	Klippel-Feil syndrome	biolink:Disease	mondo	OMIMPS:118100|SCTID:5601008|MESH:D007714|GARD:0010280|ICD9:756.16|ICD10:Q76.1|NCIT:C98967|DOID:10426	gard_rare	autosomal dominant Klippel-Feil syndrome|cervical vertebral fusion|congenital synostosis of cervical vertebrae|Klippel-Feil and Turner syndrome|congenital dystrophia brevicollis|Klippel-Feil Sequence|Klippel-Feil deformity, deafness and facial asymmetry|Klippel Feil syndrome	http://purl.obolibrary.org/obo/MONDO_0001029	Klippel Feil syndrome (KFS) is a congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy.	MESH:D007714|NCIT:C98967|DOID:10426|SNOMEDCT:5601008
MONDO:0001028	acute pericementitis	biolink:Disease	mondo	DOID:10423|SCTID:21638000|NCIT:C34354|COHD:132943|ICD9:523.33|ICD9:523.3|UMLS:C0001342		acute periodontitis|periodontitis, acute	http://purl.obolibrary.org/obo/MONDO_0001028	An acute inflammatory process that affects the tissues that surround and support the teeth.	DOID:10423|UMLS:C0001342|SNOMEDCT:21638000|NCIT:C34354
MONDO:0003687	endocardium cancer	biolink:Disease	mondo	NCIT:C4570|DOID:5877|UMLS:C0346612|SCTID:363436001		endocardium cancer|malignant endocardial neoplasm|malignant tumor of the endocardium|malignant tumor of endocardium|malignant endocardium neoplasm|malignant neoplasm of endocardium|malignant endocardial tumor|cancer of endocardium|malignant neoplasm of the endocardium	http://purl.obolibrary.org/obo/MONDO_0003687	A malignant neoplasm involving the endocardium.	NCIT:C4570|UMLS:C0346612|SNOMEDCT:363436001|DOID:5877
GO:0050886	endocrine process	biolink:OntologyClass	mondo			endocrine physiology|endocrine physiological process	http://purl.obolibrary.org/obo/GO_0050886	The process that involves the secretion of or response to endocrine hormones. An endocrine hormone is a hormone released into the circulatory system.	
HGNC:24415	BOLA3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24415		
MONDO:0003688	well differentiated papillary mesothelioma	biolink:Disease	mondo	NCIT:C7635|UMLS:C1337012|ICDO:9052/1|DOID:5884		well-differentiated papillary neoplasm of the mesothelium|well-differentiated papillary neoplasm of mesothelium|well-differentiated papillary tumor of the mesothelium|well differentiated papillary mesothelioma|well-differentiated papillary tumor of mesothelium|benign intermediate mesothelioma|benign/Intermediate mesothelioma|WDPM|well-differentiated mesothelial papillary neoplasm|well-differentiated mesothelial papillary tumor	http://purl.obolibrary.org/obo/MONDO_0003688	A localized or multifocal mesothelioma arising from the peritoneum and less often the pleura. Cases arising from the peritoneum predominantly occur in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to malignant mesothelioma.	DOID:5884|UMLS:C1337012|NCIT:C7635
MONDO:0001027	gonococcal seminal vesiculitis	biolink:Disease	mondo	DOID:10400|SCTID:301990003|UMLS:C0578661		gonorrhea of seminal vesicle|seminal vesicle gonorrhea|gonococcal seminal vesiculitis (acute)	http://purl.obolibrary.org/obo/MONDO_0001027	A gonorrhea that involves the seminal vesicle.	DOID:10400|SNOMEDCT:301990003|UMLS:C0578661
GO:2001259	positive regulation of cation channel activity	biolink:OntologyClass	mondo			positive regulation of nonselective cation channel activity|positive regulation of cation diffusion facilitator activity	http://purl.obolibrary.org/obo/GO_2001259	Any process that activates or increases the frequency, rate or extent of cation channel activity.	
MONDO:0003681	myxoid chondrosarcoma	biolink:Disease	mondo	ICDO:9231/3|DOID:5861|NCIT:C4303|ONCOTREE:MYCHS|UMLS:C0334551		myxoid chondrosarcoma|MYCHS	http://purl.obolibrary.org/obo/MONDO_0003681	A chondrosarcoma characterized by the presence of myxoid changes.	UMLS:C0334551|DOID:5861|NCIT:C4303
MONDO:0003682	localized chondrosarcoma	biolink:Disease	mondo	UMLS:C0855011|DOID:5862|NCIT:C8778		localized chondrosarcoma|chondrosarcoma, localized	http://purl.obolibrary.org/obo/MONDO_0003682	A non-disseminated skeletal or extraskeletal chondrosarcoma.	UMLS:C0855011|DOID:5862|NCIT:C8778
MONDO:0003683		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003683		
MONDO:0003684	clear cell chondrosarcoma	biolink:Disease	mondo	DOID:5867|NCIT:C6475|ICDO:9242/3|UMLS:C1266167		clear cell chondrosarcoma|clear cell chondrosarcoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003684	A rare, usually low grade chondrosarcoma characterized by the presence of tumor cells with clear cytoplasm. It usually arises in the epiphyseal ends of long bones.	UMLS:C1266167|DOID:5867|NCIT:C6475
MONDO:0001022	disuse amblyopia	biolink:Disease	mondo	UMLS:C0152189|SCTID:193638002|ICD9:368.02|DOID:10378|ICD10:H53.01		deprivation amblyopia	http://purl.obolibrary.org/obo/MONDO_0001022		DOID:10378|UMLS:C0152189|SNOMEDCT:193638002
MONDO:0001021	ametropic amblyopia	biolink:Disease	mondo	COHD:381017|ICD9:368.03|SCTID:90927000|ICD10:H53.02|UMLS:C0152190|DOID:10377		refractive amblyopia	http://purl.obolibrary.org/obo/MONDO_0001021		DOID:10377|UMLS:C0152190|SNOMEDCT:90927000
MONDO:0001020	amblyopia (disease)	biolink:Disease	mondo	NCIT:C118764|SCTID:387742006|CSP:1114-9655|HP:0000646|COHD:376981|ICD10:H53.00|UMLS:C0002418|ICD9:368.00|DOID:10376		amblyopia|lazy eye	http://purl.obolibrary.org/obo/MONDO_0001020	Decreased vision that results from abnormal visual development.	DOID:10376|SNOMEDCT:387742006|UMLS:C0002418|NCIT:C118764
MONDO:0003680	periosteal chondrosarcoma	biolink:Disease	mondo	DOID:5859|DOID:5866|UMLS:C0334549|ICDO:9221/3|NCIT:C7357		juxtacortical chondrosarcoma|chondrosarcoma (disease) of periosteum|periosteal chondrosarcoma|juxtacortical chondrosarcoma (morphologic abnormality)|periosteum chondrosarcoma (disease)	http://purl.obolibrary.org/obo/MONDO_0003680	A chondrosarcoma arising from the surface of bone. It is characterized by a lobulated growth pattern, high mitotic activity, myxoid stroma formation, and necrotic changes. It occurs in adults. Clinical presentation includes pain, and sometimes swelling.	UMLS:C0334549|DOID:5866|DOID:5859|NCIT:C7357
MONDO:0013015	Brugada syndrome 5	biolink:Disease	mondo	DOID:0110222|UMLS:C2748541|OMIM:612838|ICD10:I49.8		BRGDA5|Brugada syndrome 5|Cardiac conduction defect, nonspecific|SCN1B Brugada syndrome|Brugada syndrome type 5|Brugada syndrome 5; BRGDA5|Brugada syndrome caused by mutation in SCN1B	http://purl.obolibrary.org/obo/MONDO_0013015	Any Brugada syndrome in which the cause of the disease is a mutation in the SCN1B gene.	http://identifiers.org/omim/612838|DOID:0110222|UMLS:C2748541
MONDO:0015678	dysplasia of head of femur, Meyer type	biolink:Disease	mondo	UMLS:C4274970|Orphanet:168621|ICD10:Q78.8|SCTID:715861004	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015678	Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis.	ORPHA:168621|UMLS:C4274970|SNOMEDCT:715861004
GO:2001251	negative regulation of chromosome organization	biolink:OntologyClass	mondo			negative regulation of nuclear genome maintenance|negative regulation of maintenance of genome integrity|negative regulation of chromosome organization and biogenesis|negative regulation of chromosome organisation	http://purl.obolibrary.org/obo/GO_2001251	Any process that stops, prevents or reduces the frequency, rate or extent of chromosome organization.	
MONDO:0013016	leukocyte adhesion deficiency 3	biolink:Disease	mondo	Orphanet:99844|OMIM:612840|DOID:0110912|UMLS:C2748536|MESH:C567555|ICD10:D84.8	ordo_clinical_subtype	leukocyte adhesion deficiency type 3|lad-III|IADD|leukocyte adhesion deficiency caused by mutation in FERMT3|lad-1 variant|leukocyte adhesion deficiency, type 3|leukocyte adhesion deficiency type III|leukocyte adhesion deficiency, type III|LAD1V|LAD1 variant|leukocyte adhesion deficiency, type III; LAD3|integrin activation deficiency disease|leukocyte adhesion deficiency-1 variant|FERMT3 leukocyte adhesion deficiency|integrin Activation deficiency disease|leukocyte adhesion deficiency 1 variant|LAD3|leukocyte adhesion deficiency 3	http://purl.obolibrary.org/obo/MONDO_0013016	Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD characterized by both severe bacterial infections and a severe bleeding disorder.	DOID:0110912|MESH:C567555|ORPHA:99844|http://identifiers.org/omim/612840|UMLS:C2748536
GO:2001252	positive regulation of chromosome organization	biolink:OntologyClass	mondo			positive regulation of nuclear genome maintenance|positive regulation of chromosome organisation|positive regulation of chromosome organization and biogenesis|positive regulation of maintenance of genome integrity	http://purl.obolibrary.org/obo/GO_2001252	Any process that activates or increases the frequency, rate or extent of chromosome organization.	
MONDO:0015677	cardiac diverticulum (disease)	biolink:Disease	mondo	GARD:0001094|HP:0100571|UMLS:CN226726|ICD10:Q24.8|Orphanet:1686	ordo_morphological_anomaly	Cardiac diverticulum	http://purl.obolibrary.org/obo/MONDO_0015677	Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse.	UMLS:CN226726|ORPHA:1686
MONDO:0013013	question mark ears, isolated	biolink:Disease	mondo	OMIM:612798		auricular cleft, congenital|question mark ears, isolated|question MARK ears, isolated; QME|Cosman deformity of the auricle|QME|ears, prominent and constricted	http://purl.obolibrary.org/obo/MONDO_0013013		http://identifiers.org/omim/612798
MONDO:0015676	obsolete hyperandrogenism due to cortisone reductase deficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015676		
MONDO:0015675	distomatosis	biolink:Disease	mondo	SCTID:26089000|ICD9:121.9|Orphanet:1685|GARD:0001891|ICD9:121.8	ordo_disease|gard_rare	distomiasis|fluke infection	http://purl.obolibrary.org/obo/MONDO_0015675	Distomatosis is a group of parasitoses caused by flat worms that live in contact with epitheliums. Clinical classification depends on the organ infected by the adult parasite: liver, lungs, or intestines.	ORPHA:1685|SNOMEDCT:26089000
MONDO:0013014	spondyloepimetaphyseal dysplasia, aggrecan type	biolink:Disease	mondo	UMLS:C2748544|GARD:0010513|SCTID:719165004|MESH:C567558|ICD10:Q77.7|Orphanet:171866|OMIM:612813	ordo_disease|gard_rare	SEMD, aggrecan type|SEMDAG|spondyloepimetaphyseal dysplasia, aggrecan type; SEMDAG|spondyloepimetaphyseal dysplasia, aggrecan type	http://purl.obolibrary.org/obo/MONDO_0013014	Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.	ORPHA:171866|MESH:C567558|http://identifiers.org/omim/612813|UMLS:C2748544|SNOMEDCT:719165004
MONDO:0013019	obsolete spondyloepimetaphyseal dysplasia, Pakistani type	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0013019		
MONDO:0013017	hypotrichosis 5	biolink:Disease	mondo	UMLS:C2748535|OMIM:612841|DOID:0110702|MESH:C567554		hypotrichosis 5|HYPT5|Muhh2|hypotrichosis type 5|Marie Unna hereditary hypotrichosis 2|hypotrichosis 5; HYPT5|hypt5	http://purl.obolibrary.org/obo/MONDO_0013017	A hypotrichosis that has material basis in a mutation on chromosome 1p21.1-q21.3.	MESH:C567554|http://identifiers.org/omim/612841|UMLS:C2748535|DOID:0110702
GO:2001257	regulation of cation channel activity	biolink:OntologyClass	mondo			regulation of nonselective cation channel activity|regulation of cation diffusion facilitator activity	http://purl.obolibrary.org/obo/GO_2001257	Any process that modulates the frequency, rate or extent of cation channel activity.	
MONDO:0013018	keratosis follicularis spinulosa decalvans, autosomal dominant	biolink:Disease	mondo	UMLS:C2748527|OMIM:612843|MESH:C567553		keratosis follicularis SPINULOSA decalvans, autosomal dominant; KFSD|keratosis follicularis spinulosa decalvans, autosomal dominant|KFSD	http://purl.obolibrary.org/obo/MONDO_0013018		MESH:C567553|http://identifiers.org/omim/612843|UMLS:C2748527
MONDO:0015679	autosomal thrombocytopenia with normal platelets	biolink:Disease	mondo	ICD10:D69.4|Orphanet:168629|UMLS:CN200175	ordo_etiological_subtype		http://purl.obolibrary.org/obo/MONDO_0015679		ORPHA:168629|UMLS:CN200175
GO:2001258	negative regulation of cation channel activity	biolink:OntologyClass	mondo			negative regulation of cation diffusion facilitator activity|negative regulation of nonselective cation channel activity	http://purl.obolibrary.org/obo/GO_2001258	Any process that stops, prevents or reduces the frequency, rate or extent of cation channel activity.	
MONDO:0015670	obsolete cardiomyopathy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015670		
ENVO:00000128	dry valley	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_00000128	A valley that no longer has a surface flow of water. Typically found in either Karst (limestone) or chalk terrain.	
MONDO:0013011	atrial heart septal defect 5	biolink:Disease	mondo	ICD10:Q21.1|DOID:0110110|UMLS:C2748552|MESH:C567561|OMIM:612794		ACTC1 atrial heart septal defect|atrial septal defect 5|atrial heart septal defect caused by mutation in ACTC1|atrial heart septal defect type 5|ASD5|atrial septal defect 5; ASD5|atrial septal defect type 5	http://purl.obolibrary.org/obo/MONDO_0013011	Any atrial heart septal defect in which the cause of the disease is a mutation in the ACTC1 gene.	MESH:C567561|http://identifiers.org/omim/612794|UMLS:C2748552|DOID:0110110
MONDO:0015674	late infantile neuronal ceroid lipofuscinosis	biolink:Disease	mondo	Orphanet:168491|ICD10:E75.4|SCTID:14637005	ordo_disease	dollinger-Bielschowsky syndrome|Jansky-Bielschowsky disease|amaurotic idiocy, early juvenile type|late infantile neuronal ceroid lipofuscinosis|amaurotic idiocy early juvenile type|LINCL|Bielschowsky-jansky disease|late infantile NCL|late-infantile neuronal ceroid lipofuscinosis|dollinger-Bielschowsky type neuronal ceroid lipofuscinosis|Bielschowsky-jansky type neuronal ceroid lipofuscinosis|amaurotic idiocy, late infantile type|amaurotic idiocy late infantile type	http://purl.obolibrary.org/obo/MONDO_0015674	Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration.	SNOMEDCT:14637005|UMLS:C0022340|ORPHA:168491
GO:0050880		biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0050880		
MONDO:0015673	obsolete rare cardiac tumor	biolink:Disease	mondo	Orphanet:168194	obsoletion_candidate|ordo_group_of_disorders	rare heart neoplasm	http://purl.obolibrary.org/obo/MONDO_0015673	Any of the forms of heart neoplasm that have a rare incidence.	ORPHA:168194
MONDO:0013012	inflammatory bowel disease 27	biolink:Disease	mondo	OMIM:612796|MESH:C567559|DOID:0110902|UMLS:C2748550		IBD27|inflammatory bowel disease 27; IBD27|inflammatory bowel disease 27|inflammatory bowel disease type 27	http://purl.obolibrary.org/obo/MONDO_0013012	An inflammatory bowel disease that has material basis in variation in the chromosome region 13q13.3	MESH:C567559|http://identifiers.org/omim/612796|UMLS:C2748550|DOID:0110902
MONDO:0015672	diprosopus	biolink:Disease	mondo	GARD:0001876|Orphanet:1681|SCTID:62192003	ordo_morphological_anomaly	Diprosopia|craniofacial duplication	http://purl.obolibrary.org/obo/MONDO_0015672	Diprosopus is a rare, life-threatening developmental defect during embryogenesis, and a subtype of conjoined twins, characterized by partial or complete duplication of the facial structures on a single head, neck, trunk and body. It may be associated with congenital anomalies involving the central nervous, cardiovascular, gastrointestinal and respiratory systems. Cleft lip and palate have been reported in rare cases.	SNOMEDCT:62192003|ORPHA:1681
MONDO:0015671	obsolete diphtheria	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015671		
MONDO:0013010	autosomal recessive nonsyndromic deafness 71	biolink:Disease	mondo	OMIM:612789|ICD10:H90.3|UMLS:C2748554|MESH:C567562|DOID:0110522		DFNB71|deafness, autosomal recessive 71; DFNB71|autosomal recessive deafness 71|autosomal recessive nonsyndromic deafness type 71|deafness, autosomal recessive 71	http://purl.obolibrary.org/obo/MONDO_0013010	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 8p22-p21.3.	MESH:C567562|http://identifiers.org/omim/612789|UMLS:C2748554|DOID:0110522
MONDO:0001037	ring corneal ulcer	biolink:Disease	mondo	ICD10:H16.02|ICD9:370.02|SCTID:111520007|UMLS:C0155068|COHD:377563|DOID:10444			http://purl.obolibrary.org/obo/MONDO_0001037		DOID:10444|SNOMEDCT:111520007|UMLS:C0155068
MONDO:0001036	hypopyon	biolink:Disease	mondo	COHD:439018|SCTID:87807004|NCIT:C50593|ICD9:364.05|UMLS:C0020641|ICD10:H20.05|DOID:10443			http://purl.obolibrary.org/obo/MONDO_0001036	An accumulation of pus in the anterior chamber of the eye.	DOID:10443|UMLS:C0020641|SNOMEDCT:87807004|NCIT:C50593
GO:0050896	response to stimulus	biolink:OntologyClass	mondo			physiological response to stimulus	http://purl.obolibrary.org/obo/GO_0050896	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism.	
ENVO:00000134	permafrost	biolink:OntologyClass	mondo			Permafrost	http://purl.obolibrary.org/obo/ENVO_00000134	Soil or rock and included ice or organic material at or below the freezing point of water (0 degrees Celsius or 32 degrees Fahrenheit) for two or more years.	
MONDO:0001035	hypopyon ulcer	biolink:Disease	mondo	ICD10:H16.03|ICD9:370.04|UMLS:C0155070|SCTID:6395007|DOID:10442			http://purl.obolibrary.org/obo/MONDO_0001035		DOID:10442|SNOMEDCT:6395007|UMLS:C0155070
ENVO:00000131	glacial feature	biolink:OntologyClass	mondo			Ice|glacier feature|glacial landform|LandIce|glacer	http://purl.obolibrary.org/obo/ENVO_00000131	A hydrographic feature characterized by the dominance of snow or ice.	
MONDO:0001034	marginal corneal ulcer	biolink:Disease	mondo	DOID:10441|ICD9:370.01|COHD:374931|UMLS:C0155067|SCTID:47398006|ICD10:H16.04			http://purl.obolibrary.org/obo/MONDO_0001034		SNOMEDCT:47398006|DOID:10441|UMLS:C0155067
MONDO:0003696	obsolete meningeal melanocytoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003696		
MONDO:0003697	non-invasive verrucous carcinoma of the penis	biolink:Disease	mondo	UMLS:C1334984|NCIT:C27791|DOID:5907		non-invasive verrucous carcinoma of the penis|non-invasive verrucous carcinoma of penis|penis non-invasive verrucous carcinoma|non-invasive penile verrucous carcinoma	http://purl.obolibrary.org/obo/MONDO_0003697		UMLS:C1334984|DOID:5907|NCIT:C27791
MONDO:0003698	penis verrucous carcinoma	biolink:Disease	mondo	UMLS:C1336955|ONCOTREE:VPSCC|NCIT:C6982|DOID:5908		verrucous carcinoma of the penis|verrucous carcinoma of penis|penis verrucous carcinoma|verrucous squamous carcinoma of penis|verrucous penile squamous cell carcinoma|verrucous penile carcinoma|verrucous squamous carcinoma of the penis|squamous carcinoma of the penis, verrucous type|verrucous penile squamous carcinoma|squamous carcinoma of penis, verrucous type	http://purl.obolibrary.org/obo/MONDO_0003698	A slow growing, locally recurring, very well differentiated papillary squamous cell carcinoma that arises from the penis. It is characterized by the presence of acanthosis and hyperkeratosis. The neoplastic infiltrate extends into the underlying stroma with a pushing border. Koilocytotic atypia is not present.	UMLS:C1336955|DOID:5908|NCIT:C6982
MONDO:0001039	tonsillitis	biolink:Disease	mondo	UMLS:C0040425|UMLS:C0149517|COHD:23220|SCTID:90979004|NCIT:C116006|MESH:D014069|ICD10:J35.01|DOID:10456|ICD9:474.00		tonsilitis|chronic tonsillitis|throat infection - tonsillitis|inflammation of tonsil|tonsil inflammation	http://purl.obolibrary.org/obo/MONDO_0001039	Inflammation of the tonsillar tissue.	DOID:10456|UMLS:C0149517|MESH:D014069|NCIT:C116006|SNOMEDCT:90979004|UMLS:C0040425
UBERON:0036242	post-embryonic notochord	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0036242	A notochord that has persisted beyond the embryonic stage.	
MONDO:0003699	phobic disorder	biolink:Disease	mondo	SCTID:386810004|ICD10:F40.9|ICD9:300.2|COHD:4304010|DOID:591|EFO:1001908|MESH:D010698|ICD9:300.20|ICD10:F40|NCIT:C35420		phobia	http://purl.obolibrary.org/obo/MONDO_0003699	An anxiety disorder characterized by an intense, irrational fear of an object, activity, or situation. The individual seeks to avoid the object, activity, or situation. In adults, the individual recognizes that the fear is excessive or unreasonable.	NCIT:C35420|DOID:591|MESH:D010698|SNOMEDCT:386810004
UBERON:0012292	embryonic cloacal fold	biolink:AnatomicalEntity	mondo			cloacal fold	http://purl.obolibrary.org/obo/UBERON_0012292	One of the pair of mesenchymal swellings (folds) located on either side of the cloacal membrane during the indifferent stage of embryonic development; cranial to the cloacal membrane the folds unite to form the genital tubercle; caudally the folds are subdivided into urogenital folds anteriorly and anal folds posteriorly	
MONDO:0001038	perforated corneal ulcer	biolink:Disease	mondo	ICD10:H16.07|ICD9:370.06|COHD:376119|UMLS:C0151844|SCTID:46606001|DOID:10445			http://purl.obolibrary.org/obo/MONDO_0001038		DOID:10445|UMLS:C0151844|SNOMEDCT:46606001
MONDO:0003692	adult malignant mesenchymoma	biolink:Disease	mondo	UMLS:C0279548|DOID:5894|NCIT:C7947		malignant mesenchymoma of adults|adult malignant mesenchymoma|malignant mesenchymoma	http://purl.obolibrary.org/obo/MONDO_0003692	A malignant mesenchymoma occurring in adults.	UMLS:C0279548|DOID:5894|NCIT:C7947
GO:1902645	tertiary alcohol biosynthetic process	biolink:OntologyClass	mondo			tertiary alcohol anabolism|tertiary alcohol synthesis|tertiary alcohol formation|tertiary alcohol biosynthesis	http://purl.obolibrary.org/obo/GO_1902645	The chemical reactions and pathways resulting in the formation of tertiary alcohol.	
UBERON:0012299	mucosa of urethra	biolink:AnatomicalEntity	mondo			tunica mucosa urethrae|mucous membrane of urethra|urethral mucosa	http://purl.obolibrary.org/obo/UBERON_0012299	A mucosa that is part of a urethra.	
UBERON:0036244	secretion of serous membrane	biolink:AnatomicalEntity	mondo			serous sac fluid|serous fluid	http://purl.obolibrary.org/obo/UBERON_0036244	A transudate found in the serous sac.	
MONDO:0003693	clear cell cystadenofibroma	biolink:Disease	mondo	UMLS:C1377853|DOID:5895|NCIT:C8988		clear cell cystadenofibroma	http://purl.obolibrary.org/obo/MONDO_0003693	A benign neoplasm characterized by the presence of cystic glandular and fibrous tissues and clear cells.	UMLS:C1377853|DOID:5895|NCIT:C8988
UBERON:0036243	vaginal fluid	biolink:AnatomicalEntity	mondo			vaginal discharge|vaginal secretion	http://purl.obolibrary.org/obo/UBERON_0036243	Fluid that lines the vaginal walls that consists of multiple secretions that collect in the vagina from different glands.	
MONDO:0003694	ovarian clear cell cystadenofibroma	biolink:Disease	mondo	UMLS:C1518695|DOID:5896|NCIT:C40086		ovarian clear cell cystadenofibroma|ovary clear cell cystadenofibroma|clear cell cystadenofibroma of ovary	http://purl.obolibrary.org/obo/MONDO_0003694	A benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma and cystic structures.	NCIT:C40086|DOID:5896|UMLS:C1518695
UBERON:0036245	parenchyma of mammary gland	biolink:AnatomicalEntity	mondo			mammary gland parenchyma|parenchyma of lactiferous gland|lactiferous gland parenchyma	http://purl.obolibrary.org/obo/UBERON_0036245	Parenchymal tissue that consists of the alveoli, grape-like clusters where milk is stored, and branching ducts, which are tubular canals carrying gladular secretions.	
MONDO:0003695	ovarian clear cell adenofibroma	biolink:Disease	mondo	NCIT:C40085|UMLS:C1518694|DOID:5897		ovarian clear cell adenofibroma|clear cell adenofibroma of ovary|ovary clear cell adenofibroma	http://purl.obolibrary.org/obo/MONDO_0003695	An uncommon benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma.	NCIT:C40085|DOID:5897|UMLS:C1518694
GO:1902644	tertiary alcohol metabolic process	biolink:OntologyClass	mondo			tertiary alcohol metabolism	http://purl.obolibrary.org/obo/GO_1902644	The chemical reactions and pathways involving tertiary alcohol.	
UBERON:0036248	joint of auditory ossicle	biolink:AnatomicalEntity	mondo			auditory ossicle joint|joint of auditory ossicles|auditory ossicles joint	http://purl.obolibrary.org/obo/UBERON_0036248	Any synovial joint that connects auditory ossicles.	
MONDO:0001033	mycotic corneal ulcer	biolink:Disease	mondo	UMLS:C0155071|DOID:10440|SCTID:397977001|ICD10:H16.06|ICD9:370.05			http://purl.obolibrary.org/obo/MONDO_0001033		DOID:10440|SNOMEDCT:397977001|UMLS:C0155071
MONDO:0001032	Mooren ulcer	biolink:Disease	mondo	ICD9:370.07|UMLS:C0155072|ICD10:H16.05|DOID:10439|SCTID:22440001|Orphanet:519408	ordo_disease	Mooren's ulcer	http://purl.obolibrary.org/obo/MONDO_0001032		UMLS:C0155072|ORPHA:519408|SNOMEDCT:22440001|DOID:10439
MONDO:0003690	adult anaplastic ependymoma	biolink:Disease	mondo	UMLS:C0280787|NCIT:C8269|DOID:5890		malignant adult ependymoma|adult malignant ependymoma|anaplastic ependymoma of adults|anaplastic ependymoma|adult anaplastic ependymoma	http://purl.obolibrary.org/obo/MONDO_0003690	An anaplastic ependymoma occurring in adults.	NCIT:C8269|DOID:5890|UMLS:C0280787
MONDO:0001031	purulent acute otitis media	biolink:Disease	mondo	SCTID:194281003|COHD:439264|DOID:10435|ICD9:382.02|UMLS:C0271431		acute suppurative otitis media|suppurative otitis media, acute	http://purl.obolibrary.org/obo/MONDO_0001031	Acute form of suppurative otitis media.	UMLS:C0271431|SNOMEDCT:194281003|DOID:10435
MONDO:0001030	keratoconus, stable condition	biolink:Disease	mondo	ICD10:H18.61|ICD9:371.61|DOID:10428|COHD:380110|SCTID:193844000|UMLS:C0155131		stable condition keratoconus	http://purl.obolibrary.org/obo/MONDO_0001030		SNOMEDCT:193844000|UMLS:C0155131|DOID:10428
MONDO:0003691	childhood malignant mesenchymoma	biolink:Disease	mondo	DOID:5893|NCIT:C8097|UMLS:C0279991		childhood malignant mesenchymoma|malignant mesenchymoma|pediatric malignant mesenchymoma|malignant mesenchymoma of childhood|pediatric malignant mesenchymoma	http://purl.obolibrary.org/obo/MONDO_0003691	A malignant mesenchymoma occurring in children.	UMLS:C0279991|NCIT:C8097|DOID:5893
MONDO:0013004	hypotonia, seizures, and precocious puberty	biolink:Disease	mondo	OMIM:612777|UMLS:C2748586|MESH:C567566		hypotonia, seizures, and precocious puberty	http://purl.obolibrary.org/obo/MONDO_0013004		MESH:C567566|http://identifiers.org/omim/612777|UMLS:C2748586
CL:0002573	Schwann cell	biolink:Cell	mondo	CALOHA:TS-0898|BTO:0001220			http://purl.obolibrary.org/obo/CL_0002573	A glial cell that ensheathes axons of neuron in the peripheral nervous system and are necessary for their maintainance and function.	
MONDO:0015667	unclassified acute myeloid leukemia	biolink:Disease	mondo	Orphanet:167714|NCIT:C27753|GARD:0012760	gard_rare|ordo_group_of_disorders	AML, NOS|acute myeloid leukemia not otherwise specified|acute myeloid leukemia, NOS|unclassified AML|acute myeloid leukemia NOS|acute myeloid leukemia not otherwise categorized|acute myeloid leukemia	http://purl.obolibrary.org/obo/MONDO_0015667	Acute myeloid leukemias that do not fulfill the criteria for inclusion in the group of acute myeloid leukemias which have recurrent genetic abnormalities or myelodysplastic changes, or are therapy-related. This category includes entities classified according to the French-American-British classification scheme.	NCIT:C27753|ORPHA:167714
MONDO:0013005	EAST syndrome	biolink:Disease	mondo	DOID:0060484|UMLS:C2748572|Orphanet:199343|GARD:0010514|OMIM:612780|SCTID:721207002|MESH:C557674	ordo_disease	epilepsy, ataxia, sensorineural deafness and tubulopathy|sesame syndrome|seizures - sensorineural deafness - ataxia - intellectual disability - electrolyte imbalance|seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance|seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome|seizures, sensorineural deafness, ataxia, intellectual disability and electrolyte imbalance|EAST syndrome|epilepsy, ataxia, sensorineural deafness, and tubulopathy|seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance|seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance; SESAMES|seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance|seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance; SESAMES|SESAMES	http://purl.obolibrary.org/obo/MONDO_0013005	SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia).	ORPHA:199343|SNOMEDCT:721207002|DOID:0060484|MESH:C557674|http://identifiers.org/omim/612780|UMLS:C2748572
MONDO:0015666	familial idiopathic dilatation of the right atrium (disease)	biolink:Disease	mondo	SCTID:716773002|ICD10:Q20.8|UMLS:CN200093|Orphanet:1677	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0015666	Idiopathic dilatation of the right atrium (IDRA) is a rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications.	UMLS:CN200093|SNOMEDCT:716773002|ORPHA:1677
MONDO:0015665	scleromyxedema	biolink:Disease	mondo	UMLS:C0263390|UMLS:CN200092|MESH:D053718|SCTID:402468007|MedDRA:10055046|Orphanet:167635|ICD9:701.8|NCIT:C85061|ICD10:L98.5|GARD:0007615	gard_rare|ordo_disease	lichen myxedematosus|generalized lichenoid papular eruption|generalized papular and sclerodermoid|Scleromyxedema|generalized papular and sclerodermoid lichen myxedematosus|Arndt-Gottron disease|myxedematosus, lichen|scleromyxoedema|papular mucinosis|mucinosis, papular	http://purl.obolibrary.org/obo/MONDO_0015665	Scleromyxedema is a rare, severe skin disorder. Signs and symptoms include abnormal accumulation of mucin in the skin (mucinosis), causing papular and sclerodermoid bumps; increased production of fibroblasts (connective tissue cells) in the absence of a thyroid disorder; and monoclonal gammopathy (abnormal proteins in the blood). It often involves internal organs and may affect various body systems. The cause of scleromyxedema is not known. There is no standard treatment. Management may involve the use of intravenous immunoglobulin (IVIG), plasmapheresis, thalidomide and corticoids, or more aggressive interventions, such as autologous bone marrow transplantation.	SNOMEDCT:402468007|MEDDRA:10055046|ORPHA:167635|UMLS:CN200092|MESH:D053718|UMLS:C0263390|NCIT:C85061
MONDO:0013002	cone-rod dystrophy 9	biolink:Disease	mondo	OMIM:612775|UMLS:C1423873|DOID:0111020		cone-rod dystrophy 9|cone-rod dystrophy 9; CORD9|CORD9|ADAM9 cone-rod dystrophy|cone-rod dystrophy caused by mutation in ADAM9|cone-rod dystrophy type 9	http://purl.obolibrary.org/obo/MONDO_0013002	Any cone-rod dystrophy in which the cause of the disease is a mutation in the ADAM9 gene.	http://identifiers.org/omim/612775|UMLS:C1423873|DOID:0111020
CL:0002575	central nervous system pericyte	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002575	A pericyte of the central nervous system.	
CL:0002574	stromal cell of pancreas	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002574	A stromal cell of the pancreas.	
MONDO:0013003	isolated congenital hypoglossia/aglossia	biolink:Disease	mondo	Orphanet:141152|OMIM:612776|UMLS:C2748587|ICD10:Q38.3	ordo_morphological_anomaly	hypoglossia with situs inversus|hypoglossia, isolated	http://purl.obolibrary.org/obo/MONDO_0013003	Isolated aglossia and hypoglossia are terms covering the spectrum from partial to total absence of the tongue. These congenital malformations have been classified as part of the group of oromandibular-limb hypogenesis syndromes (OLHS).	ORPHA:141152|http://identifiers.org/omim/612776|UMLS:C2748587
MONDO:0015664	idiopathic pulmonary artery dilatation	biolink:Disease	mondo	Orphanet:1676|ICD10:E25.7|GARD:0006757	ordo_disease|gard_rare	idiopathic dilatation of the pulmonary artery	http://purl.obolibrary.org/obo/MONDO_0015664	Idiopathic pulmonary artery dilatation is a rare developmental defect during embryogenesis characterized by the dilatation of the main pulmonary artery, with or without dilatation of the right and left pulmonary artery branches, and not attributed to any other cardiac, pulmonary and/or arterial wall disease. It may present with exertional dyspnea, fatigue, cough, hemoptysis, palpitation and chest pain, but may also be asymptomatic. In serious cases, trachea constriction due to postural changes may lead to attacks of cyanosis with severe dyspnea. Sudden cardiac death has been reported in some cases.	ORPHA:1676
MONDO:0013008	combined immunodeficiency due to STIM1 deficiency	biolink:Disease	mondo	UMLS:C2748557|MESH:C557827|GARD:0010523|ICD10:D81.8|Orphanet:317430|OMIM:612783	ordo_clinical_subtype	immunodeficiency 10|CID due to STIM1 deficiency|immunodeficiency 10; IMD10|STIM1 deficiency|immune dysfunction with T-cell inactivation due to calcium entry defect 2|IMD10|immunodeficiency type 10	http://purl.obolibrary.org/obo/MONDO_0013008	Aform of combined immunodeficiency due to Calcium release activated Ca2+(CRAC) channel dysfunction characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.	MESH:C557827|ORPHA:317430|http://identifiers.org/omim/612783|UMLS:C2748557
MONDO:0013009	Megarbane-Jalkh syndrome	biolink:Disease	mondo	UMLS:C2748555|GARD:0010689|MESH:C548071|OMIM:612785	gard_rare	developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure|Megarbane Jalkh syndrome|Megarbane-Jalkh syndrome|developmental delay dysmorphic features neonatal spontaneous fractures wrinkled skin and hepatic failure	http://purl.obolibrary.org/obo/MONDO_0013009		UMLS:C2748555|http://identifiers.org/omim/612785|MESH:C548071
CL:0002576	perineural cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002576	A myofibroblast that lies in the connective tissue of the spinal cord that has a distinctly lamellar arrangement.	
HGNC:12449	TYROBP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12449		
MONDO:0013006	isolated growth hormone deficiency type IB	biolink:Disease	mondo	Orphanet:231671|OMIM:612781|GARD:0003919|ICD10:E23.0|UMLS:C2748571|DOID:0060874|MESH:C567564	ordo_clinical_subtype|gard_rare	IGHD 1B|congenital isolated GH deficiency type IB|isolated growth hormone deficiency type 1B|isolated growth hormone deficiency, type IB|IGHD IB|isolated Growth hormone deficiency, type 1B|congenital IGHD type IB|IGHD1B|dwarfism of Sindh|congenital isolated growth hormone deficiency type IB|isolated growth hormone deficiency, type IB; IGHD1B	http://purl.obolibrary.org/obo/MONDO_0013006	An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively.	DOID:0060874|ORPHA:231671|MESH:C567564|http://identifiers.org/omim/612781|UMLS:C2748571
MONDO:0015669	rare disease with dentinogenesis imperfecta	biolink:Disease	mondo	Orphanet:167762	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015669		ORPHA:167762
MONDO:0015668	hereditary dentin defect	biolink:Disease	mondo	Orphanet:167759|ICD10:K00.5	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015668	The hereditary dentin disorders, dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), comprise a group of conditions characterized by abnormal dentin structure affecting either the primary or both the primary and secondary dentitions.	ORPHA:167759
MONDO:0013007	combined immunodeficiency due to ORAI1 deficiency	biolink:Disease	mondo	Orphanet:317428|ICD10:D81.8|UMLS:C2748568|MESH:C557826|GARD:0010524|OMIM:612782	ordo_clinical_subtype	IMD9|immunodeficiency 9; IMD9|CID due to ORAI1 deficiency|immune dysfunction with T-cell inactivation due to calcium entry defect 1|immunodeficiency 9|immunodeficiency type 9	http://purl.obolibrary.org/obo/MONDO_0013007	A form of combined immunodeficiency due to Calcium release activated Ca2+ (CRAC) channel dysfunction characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.	MESH:C557826|ORPHA:317428|http://identifiers.org/omim/612782|UMLS:C2748568
MONDO:0013000	porphyria due to ALA dehydratase deficiency	biolink:Disease	mondo	OMIM:612740|Orphanet:100924|GARD:0004445|MESH:C562618|ICD10:E80.2	gard_rare|ordo_disease	aminolevulinate dehydratase deficiency porphyria|porphyria, ALAD|porphyria of Doss|ALAD deficiency|porphobilinogen synthase deficiency|porphyria due to delta-aminolevulinate dehydratase deficiency|Delta-aminolevulinate dehydratase deficiency|Doss porphyria|ALA dehydratase deficiency pophyria|5-aminolevulinic acid dehydratase deficiency porphyria|Lead poisoning, susceptibility to|ALAD porphyria|porphyria, acute hepatic|porphyria due to ALAD deficiency	http://purl.obolibrary.org/obo/MONDO_0013000	Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria characterized by neuro-visceral attacks without cutaneous manifestations.	MESH:C562618|ORPHA:100924|http://identifiers.org/omim/612740
MONDO:0015663	diencephalic syndrome	biolink:Disease	mondo	GARD:0006276|NCIT:C116955|ICD10:C72.8|UMLS:CN200089|SCTID:237733001|UMLS:C0271889|UMLS:C0342436|Orphanet:1672|ICD9:253.8	gard_rare|ordo_disease	diencephalic syndrome of emaciation|Russell diencephalic cachexia|diencephalic cachexia|Russell syndrome|diencephalic syndrome of infancy|diencephalic syndrome of childhood	http://purl.obolibrary.org/obo/MONDO_0015663	Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesias and euphoria, in the presence of hypothalamic tumors.	UMLS:CN200089|UMLS:C0271889|ORPHA:1672|NCIT:C116955|UMLS:C0342436|SNOMEDCT:237733001
HGNC:12442	TYR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12442		
MONDO:0013001	obsolete synesthesia	biolink:Disease	mondo	OMIM:612759|MESH:C562460		synesthesia|Synsth	http://purl.obolibrary.org/obo/MONDO_0013001		MESH:C562460|http://identifiers.org/omim/612759
GO:0050892	intestinal absorption	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0050892	Any process in which nutrients are taken up from the contents of the intestine.	
MONDO:0015662	hemorrhagic disorder due to an acquired coagulation factor defect	biolink:Disease	mondo	Orphanet:166775|UMLS:CN226721	obsoletion_candidate|ordo_group_of_disorders	rare bleeding disorder due to an acquired coagulation factor defect|rare coagulopathy due to an acquired coagulation factor defect	http://purl.obolibrary.org/obo/MONDO_0015662		ORPHA:166775|UMLS:CN226721
MONDO:0015661	dextrocardia (disease)	biolink:Disease	mondo	GARD:0001827|COHD:4100815|SCTID:27637000|Orphanet:1666|MedDRA:10012592|MONDO:0004823|NCIT:C84669|ICD10:Q24.0|MESH:D003914|ICD9:746.87|HP:0001651|DOID:9565	gard_rare|ordo_morphological_anomaly	heart predominantly in right hemithorax|dextrocardia	http://purl.obolibrary.org/obo/MONDO_0015661	A rare congenital abnormality in which the heart is located in the right side of the chest. It is associated with other congenital heart defects.	DOID:9565|NCIT:C84669|MESH:D003914|MEDDRA:10012592|ORPHA:1666|UMLS:C0265863|UMLS:C0011813|SNOMEDCT:27637000
HGNC:12440	TYK2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12440		
CL:0002571	hepatic mesenchymal stem cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002571	A mesenchymal stem cell of liver.	
GO:0050890	cognition	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0050890	The operation of the mind by which an organism becomes aware of objects of thought or perception; it includes the mental activities associated with thinking, learning, and memory.	
MONDO:0015660	sporadic fetal brain disruption sequence	biolink:Disease	mondo	ICD10:Q02|UMLS:CN237425|Orphanet:1665|SCTID:763717004	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0015660	Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly.	SNOMEDCT:763717004|ORPHA:1665|UMLS:CN237425
CHEBI:76924	plant metabolite	biolink:ChemicalSubstance	mondo			plant secondary metabolites|plant metabolites	http://purl.obolibrary.org/obo/CHEBI_76924	Any eukaryotic metabolite produced during a metabolic reaction in plants, the kingdom that include flowering plants, conifers and other gymnosperms.	
HP:0020129	Abnormal urine protein level	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0020129	Any deviation of the concentration of one or more proteins in the urine.	
UBERON:0012321	deep cervical artery	biolink:AnatomicalEntity	mondo			profunda cervicalis	http://purl.obolibrary.org/obo/UBERON_0012321	The deep cervical artery (Profunda cervicalis) is an artery of the neck.	
UBERON:0012320	cervical artery	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0012320	An artery of the neck	
UBERON:0012317	vagina orifice	biolink:AnatomicalEntity	mondo			introitus|introitus of vagina|vagina opening|vaginal orifice|ostium vaginae|orifice of vagina|opening of vagina|introitus|vaginal introitus	http://purl.obolibrary.org/obo/UBERON_0012317	The median slit located inferior and posterior to the external urethral orifice in the female; the exit for menstrual flow and birth and the entrance for the penis during sexual intercourse; the size and appearance of the vaginal orifice varies inversely with that of the hymen (G. membrane), a thin fold of mucous membrane that surrounds the vaginal orifice	
UBERON:0000344	mucosa	biolink:AnatomicalEntity	mondo			tunica mucosa|mucous membrane|organ mucosa|mucosa of organ part|region of mucosa|mucosal region|mucosa of organ	http://purl.obolibrary.org/obo/UBERON_0000344	A lining of mostly endodermal origin, covered in epithelium, which is involved in absorption and secretion. They line various body cavities that are exposed to the external environment and internal organs. It is at several places continuous with skin: at the nostrils, the lips, the ears, the genital area, and the anus. The sticky, thick fluid secreted by the mucous membranes and gland is termed mucus. The term mucous membrane refers to where they are found in the body and not every mucous membrane secretes mucus[WP]	
HGNC:12530	UGT1A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12530		
UBERON:0000341	throat	biolink:AnatomicalEntity	mondo			gula	http://purl.obolibrary.org/obo/UBERON_0000341	In anatomy, the throat is the anterior part of the neck, in front of the vertebral column. It consists of the pharynx and larynx. An important feature of the throat is the epiglottis, a flap which separates the esophagus from the trachea and prevents inhalation of food or drink. The throat contains various blood vessels, various pharyngeal muscles, the trachea (windpipe) and the esophagus. The hyoid bone and the clavicle are the only bones located in the throat of mammals. It is sometimes considered a synonym for fauces. [WP,unvetted].	
CHEBI:76932	pathway inhibitor	biolink:ChemicalSubstance	mondo			pathway inhibitors|metabolic pathway inhibitors|metabolic pathway inhibitor	http://purl.obolibrary.org/obo/CHEBI_76932	An enzyme inhibitor that interferes with one or more steps in a metabolic pathway.	
UBERON:0000325	gastric gland	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0000325	The branched tubular glands found in the mucosa of the fundus and body of the stomach which contain parietal cells that secrete hydrochloric acid and zymogenic cells that produce pepsin.	
UBERON:0000326	pancreatic juice	biolink:AnatomicalEntity	mondo			pancreatic secretion|succus pancreaticus|pancreatic fluid	http://purl.obolibrary.org/obo/UBERON_0000326	Pancreatic juice is slightly alkaline and contains numerous enzymes and inactive enzyme precursors including alpha-amylase, chymotrypsinogen, lipase, procarboxypeptidase, proelastase, prophospholipase A2, ribonuclease, and trypsinogen. Its high concentration of bicarbonate ions helps to neutralize the acid from the stomach.	
HGNC:24525	MMACHC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24525		
HGNC:24526	ATL3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24526		
UBERON:0000328	gut wall	biolink:AnatomicalEntity	mondo			wall of digestive tract|wall of gut|digestive tract wall|wall of alimentary tract	http://purl.obolibrary.org/obo/UBERON_0000328	The wall of the digestive tract. This encompasses all parts of the digestive tract with the exception of the lumen (cavity).	
UBERON:0036301	vasculature of spleen	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0036301		
UBERON:0036300	tributary of central retinal vein	biolink:AnatomicalEntity	mondo			central retinal venous tributary	http://purl.obolibrary.org/obo/UBERON_0036300		
UBERON:0012314	embryonic facial prominence	biolink:AnatomicalEntity	mondo			primordium of face|facial primordium|embryonic facial process	http://purl.obolibrary.org/obo/UBERON_0012314	One of five swellings formed during the development of the face	
UBERON:0036303	vasculature of central nervous system	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0036303		
UBERON:0036302	vasculature of central nervous system plus retina	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0036302		
UBERON:0012313	1st arch maxillary ectoderm	biolink:AnatomicalEntity	mondo			ectoderm of maxillary component	http://purl.obolibrary.org/obo/UBERON_0012313		
UBERON:0036304	anatomical border	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0036304	An anatomical structure that is located along the line dividing two regions of an anatomical structure.	
CHEBI:25340	methylpyridines	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_25340	Any member of the class of pyridines that carries at least one methyl substituent.	
CHEBI:37325	alloxazine	biolink:ChemicalSubstance	mondo			Alloxazin|alloxazine|benzo[g]pteridine-2,4(1H,3H)-dione	http://purl.obolibrary.org/obo/CHEBI_37325		
CHEBI:37326	benzo[g]pteridine-2,4-dione	biolink:ChemicalSubstance	mondo			benzo[g]pteridine-2,4-dione	http://purl.obolibrary.org/obo/CHEBI_37326		
CHEBI:37323	7,8-dimethylisoalloxazine	biolink:ChemicalSubstance	mondo			dimethylisoalloxazine|7,8-dimethylbenzo[g]pteridine-2,4(3H,10H)-dione	http://purl.obolibrary.org/obo/CHEBI_37323	A 7,8-dimethylbenzo[g]pteridine-2,4-dione that is  isoalloxazine substituted by methyl groups at positions 7 and 8.	
CHEBI:37324	7,8-dimethylbenzo[g]pteridine-2,4-dione	biolink:ChemicalSubstance	mondo			7,8-dimethylbenzo[g]pteridine-2,4-dione	http://purl.obolibrary.org/obo/CHEBI_37324		
CHEBI:37327	isoalloxazine	biolink:ChemicalSubstance	mondo			benzo[g]pteridine-2,4(3H,10H)-dione	http://purl.obolibrary.org/obo/CHEBI_37327		
UBERON:0000332	yellow bone marrow	biolink:AnatomicalEntity	mondo			medulla ossium flava|fat marrow|yellow marrow	http://purl.obolibrary.org/obo/UBERON_0000332	bone marrow in which the fat cells predominate in the meshes of the reticular network.	
UBERON:0000333	intestinal gland	biolink:AnatomicalEntity	mondo			gland of bowel mucous membrane|gland of mucosa of organ of intestine|gland of organ mucosa of intestine|bowel mucous membrane gland|gland of intestine mucosa|mucosa of organ of bowel gland|gland of intestine mucosa of organ|glandulae intestinales|gland of mucosa of intestine|gland of intestine organ mucosa|bowel mucosa gland|gland of mucous membrane of bowel|bowel organ mucosa gland|mucous membrane of intestine gland|intestine mucosa of organ gland|organ mucosa of intestine gland|mucosa of intestine gland|gland of intestinal mucosa|gland of intestine mucous membrane|intestinal mucosa gland|gland of mucosa of organ of bowel|mucosa of organ of intestine gland|intestine mucous membrane gland|gland of bowel mucosa of organ|gland of bowel mucosa|gland of organ mucosa of bowel|gland of bowel organ mucosa|intestine mucosa gland|gland of mucosa of bowel|intestine organ mucosa gland|gland of mucous membrane of intestine|glandula intestinalis|mucous membrane of bowel gland|bowel mucosa of organ gland|organ mucosa of bowel gland|mucosa of bowel gland	http://purl.obolibrary.org/obo/UBERON_0000333	A gland that is part of the intestinal mucosa. Examples include the intestinal crypts, duodenal gland[cjm].	
HGNC:24519	TCTN3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24519		
UBERON:0000331	ileal mucosa	biolink:AnatomicalEntity	mondo			ileum mucosa of organ|organ mucosa of ileum|mucous membrane of ileum|mucosa of ileum|ileal mucous membrane|mucosa of organ of ileum|ileum mucous membrane|ileum mucosa|ileum organ mucosa	http://purl.obolibrary.org/obo/UBERON_0000331	A mucosa that is part of a ileum [Automatically generated definition].	
UBERON:0000314	cecum mucosa	biolink:AnatomicalEntity	mondo			intestinum crassum caecum organ mucosa|mucosa of intestinum crassum caecum|caecum mucosa of organ|cecum mucous membrane|mucosa of organ of cecum|cecum organ mucosa|intestinum crassum caecum mucous membrane|mucosa of organ of intestinum crassum caecum|cecal mucosa|caecum mucous membrane|mucosa of organ of caecum|mucosa of caecum|mucous membrane of cecum|cecum mucosa of organ|organ mucosa of cecum|organ mucosa of caecum|mucosa of cecum|caecum mucosa|mucous membrane of caecum|caecum organ mucosa|intestinum crassum caecum mucosa|mucous membrane of intestinum crassum caecum|organ mucosa of intestinum crassum caecum|intestinum crassum caecum mucosa of organ	http://purl.obolibrary.org/obo/UBERON_0000314	A mucosa that is part of a cecum [Automatically generated definition].	
UBERON:0000315	subarachnoid space	biolink:AnatomicalEntity	mondo			spatium leptomeningeum|spatium subarachnoideum|cavitas subarachnoidea|cavum subarachnoideale|subarachnoid cavity	http://purl.obolibrary.org/obo/UBERON_0000315	The space between the arachnoid and pia mater.	
CHEBI:76946	fungal metabolite	biolink:ChemicalSubstance	mondo			fungal metabolites	http://purl.obolibrary.org/obo/CHEBI_76946	Any eukaryotic metabolite produced during a metabolic reaction in fungi, the kingdom that includes microorganisms such as the yeasts and moulds.	
UBERON:0000316	cervical mucus	biolink:AnatomicalEntity	mondo			cervix mucus	http://purl.obolibrary.org/obo/UBERON_0000316	A substance produced by the cervix and endocervical glands[BTO]. Thick acidic mucus that blocks the cervical os after mestruation[WP]. This 'infertile' mucus blocks spermatozoa from entering the uterus.	
UBERON:0000317	colonic mucosa	biolink:AnatomicalEntity	mondo			colonic mucous membrane|colonic mucosa|large bowel mucosa|mucosa of colon|colon mucosa|mucosa of large bowel|colon mucous membrane	http://purl.obolibrary.org/obo/UBERON_0000317	Mucosa that is part of a colon. The mucosa of the colon is lined by a simple columnar epithelium with a thin brush border and numerous goblet cells.	
HGNC:12509	UBQLN2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12509		
HP:0010783	Erythema	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:444827008|MSH:D004890|SNOMEDCT_US:271811009|MSH:D005483|SNOMEDCT_US:20255002|UMLS:C0041834|SNOMEDCT_US:70819003|SNOMEDCT_US:238810007|SNOMEDCT_US:247441003|UMLS:C0016382|SNOMEDCT_US:86735004	hposlim_core	Redness of skin or mucous membrane	http://purl.obolibrary.org/obo/HP_0010783	Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.	
UBERON:0012303	ureteral orifice	biolink:AnatomicalEntity	mondo			ureteral meatus|ostium ureteris|ureterovesical orifice|ureteric ostium|ureteric orifice|orifice of ureter|orificium ureteris|ureteral opening|Mercier's bar	http://purl.obolibrary.org/obo/UBERON_0012303	The slit-like opening of either ureter into the bladder; normally, the two ureteral orifices are placed at the posterolateral angles of the urinary bladder trigone while the internal urethral orifice is placed at its anteroinferior angle (apex); wide gaping usually indicates vesicoureteral reflux	
HGNC:9647	PTPN14	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9647		
HGNC:12513	UCHL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12513		
UBERON:0000323	late embryo	biolink:AnatomicalEntity	mondo			fetus|embryo late growth stage|embryo late stage	http://purl.obolibrary.org/obo/UBERON_0000323	An embryo that is at the late embryonic stage; this stage covers late steps of the embryogenesis with a fully formed embryo still developing before birth or egg hatching.	
HGNC:9644	PTPN11	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9644		
UBERON:0000320	duodenal mucosa	biolink:AnatomicalEntity	mondo			duodenum mucosa|doudenal mucosa|mucosa of duodenum|mucous membrane of duodenum|duodenal mucous membrane	http://purl.obolibrary.org/obo/UBERON_0000320	A mucosa that is part of a duodenum [Automatically generated definition].	
HGNC:9642	PTPN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9642		
UBERON:0000307	blastula	biolink:AnatomicalEntity	mondo			blastula embryo|blastosphere	http://purl.obolibrary.org/obo/UBERON_0000307	Organism at the blastula stage - an early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence.	
ENVO:00002872	bagasse	biolink:OntologyClass	mondo			sugarcane bagasse	http://purl.obolibrary.org/obo/ENVO_00002872	The biomass remaining after sugarcane stalks are crushed to extract their juice.	
HGNC:24502	WDR62	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24502		
UBERON:0000309	body wall	biolink:AnatomicalEntity	mondo			trunk wall|wall of trunk|wall fo trunk	http://purl.obolibrary.org/obo/UBERON_0000309	The external portion of an animal body derived from ectoderm and mesoderm layers that encloses the body cavity.	
UBERON:0000304	tendon sheath	biolink:AnatomicalEntity	mondo			synovial tendon sheath|vagina tendinis	http://purl.obolibrary.org/obo/UBERON_0000304	A layer of membrane around a tendon. It has 2 layers: synovial sheath + fibrous tendon sheath	
UBERON:0000305	amnion	biolink:AnatomicalEntity	mondo			amnios	http://purl.obolibrary.org/obo/UBERON_0000305	the thin innermost layer of the extraembryonic membranes that contains the amniotic fluid; the membrane forms a closed sac in which the embryo and later, the fetus, is suspended and protected	
HGNC:12519	UCP3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12519		
HGNC:12517	UCP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12517		
UBERON:0014950	layer of developing cerebral cortex	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0014950		
UBERON:0000310	breast	biolink:AnatomicalEntity	mondo			mammary part of chest|mamma|mammary region	http://purl.obolibrary.org/obo/UBERON_0000310	The upper ventral region of the torso of an organism.	
HP:0009797	Cholesteatoma	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:363668000|UMLS:C0008373|MSH:D002781|SNOMEDCT_US:575006			http://purl.obolibrary.org/obo/HP_0009797	Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear.	
UBERON:0000313	portion of cartilage tissue in tibia	biolink:AnatomicalEntity	mondo			tibial cartilage|cartilage of tibia	http://purl.obolibrary.org/obo/UBERON_0000313	Cartilage pertaining to the tibia.	
HGNC:9652	PTPN22	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9652		
MONDO:0003502	ureter squamous cell carcinoma	biolink:Disease	mondo	UMLS:C1336879|NCIT:C6154|DOID:5539		epidermoid carcinoma of ureter|epidermoid carcinoma of the ureter|ureteral epidermoid carcinoma|ureteral squamous cell carcinoma|squamous cell carcinoma of ureter|ureter squamous cell carcinoma|squamous cell carcinoma of the ureter|ureter epidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0003502	A rare squamous cell carcinoma that arises from the ureter.	DOID:5539|NCIT:C6154|UMLS:C1336879
MONDO:0003503	fallopian tube squamous cell carcinoma	biolink:Disease	mondo	NCIT:C6282|DOID:5540|UMLS:C1333596		fallopian tube squamous cell cancer|squamous cell carcinoma of fallopian tube|fallopian tube squamous cell carcinoma|squamous cell carcinoma of the fallopian tube	http://purl.obolibrary.org/obo/MONDO_0003503	A rare squamous cell carcinoma that arises from the fallopian tube.	DOID:5540|NCIT:C6282|UMLS:C1333596
CHEBI:76967	human xenobiotic metabolite	biolink:ChemicalSubstance	mondo			human xenobiotic metabolites	http://purl.obolibrary.org/obo/CHEBI_76967	Any human metabolite produced by metabolism of a xenobiotic compound in humans.	
MONDO:0003504	anal canal neuroendocrine neoplasm	biolink:Disease	mondo	DOID:5545|NCIT:C5603|SCTID:717917007		anal canal neuroendocrine tumor, well differentiated, low or intermediate grade|anal neuroendocrine tumor|anal neuroendocrine neoplasm|anal canal neuroendocrine tumor|neuroendocrine neoplasm of anus|neuroendocrine neoplasm of the anus|anus neuroendocrine tumor|neuroendocrine tumor of anus|anal canal NET|anal canal neuroendocrine neoplasm|anal canal neuroendocrine tumor|anus neuroendocrine neoplasm|neuroendocrine neoplasm of anal canal	http://purl.obolibrary.org/obo/MONDO_0003504	A neoplasm with neuroendocrine differentiation that arises from the anal canal. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).	DOID:5545|SNOMEDCT:717917007|NCIT:C5603
MONDO:0003505	femoral cancer	biolink:Disease	mondo	EFO:0007270|DOID:5546|MESH:D005266		malignant neoplasm of femur|neoplasm of femur|femoral neoplasm|cancer of femur|femur cancer|malignant femur neoplasm	http://purl.obolibrary.org/obo/MONDO_0003505	A cancer involving a femur.	DOID:5546|MESH:D005266
CHEBI:27958	cocaine	biolink:ChemicalSubstance	mondo			l-Cocain|Cocain|Kokain|2-methyl-3beta-hydroxy-1alphaH,5alphaH-tropane-2beta-carboxylate benzoate (ester)|(-)-cocaine|beta-Cocain|COCAINE|Cocaine|Benzoylmethylecgonine|methyl benzoylecgonine|[1R-(exo,exo)]-3-(benzoyloxy)-8-methyl-8-azabicyclo[3.2.1]octane-2-carboxylic acid, methyl ester|cocainum|Neurocaine|(1R,2R,3S,5S)-2-(methoxycarbonyl)tropan-3-yl benzoate|l-cocaine|methyl (1R,2R,3S,5S)-3-(benzoyloxy)-8-methyl-8-azabicyclo[3.2.1]octane-2-carboxylate|methyl [1R-(exo,exo)]-3-(benzoyloxy)-8-methyl-8-azabicyclo[3.2.1]octane-2-carboxylate|Cocaina	http://purl.obolibrary.org/obo/CHEBI_27958	A tropane alkaloid obtained from leaves of the South American shrub Erythroxylon coca.	
UBERON:0012361	internal anal region	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0012361		
UBERON:0012360	bone of jaw	biolink:AnatomicalEntity	mondo			jaw bone	http://purl.obolibrary.org/obo/UBERON_0012360	A bone element that is part of a jaw region.	
MONDO:0003500	squamous cell bile duct carcinoma	biolink:Disease	mondo	UMLS:C0861861|DOID:5537		bile duct squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0003500	A squamous cell carcinoma that involves the bile duct.	DOID:5537|UMLS:C0861861
CHEBI:76969	bacterial metabolite	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_76969	Any prokaryotic metabolite produced during a metabolic reaction in bacteria.	
MONDO:0003501	external ear squamous cell carcinoma	biolink:Disease	mondo	UMLS:C1333494|NCIT:C6083|DOID:5538		epidermoid carcinoma of the external ear|epidermoid carcinoma of external Ear|external Ear squamous cell carcinoma|external ear squamous cell carcinoma|epidermoid carcinoma of the external Ear|squamous cell carcinoma of external Ear|squamous cell carcinoma of external ear|squamous cell carcinoma of the external Ear|external Ear epidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0003501	A squamous cell carcinoma that arises from the skin of the external ear.	DOID:5538|NCIT:C6083|UMLS:C1333494
UBERON:0012363	thyroid follicle epithelium	biolink:AnatomicalEntity	mondo			thryoid epithelium|thyroid follicle epithelium|wall of thyroid follicle|epithelium of thyroid follicle	http://purl.obolibrary.org/obo/UBERON_0012363	A epithelium that is part of a thyroid follicle.	
UBERON:0012367	muscle layer of intestine	biolink:AnatomicalEntity	mondo			intestinal muscularis propria|smooth muscle of intestine|muscularis externa of intestine	http://purl.obolibrary.org/obo/UBERON_0012367	A muscle layer that is part of an intestine.	
CHEBI:15966	D-glutamic acid	biolink:ChemicalSubstance	mondo			D-glutamic acid|D-Glutaminsaeure|D-Glutamic acid|glutamic acid D-form|DGL|D-Glutaminic acid|D-2-Aminoglutaric acid|(2R)-2-aminopentanedioic acid|(R)-2-aminopentanedioic acid	http://purl.obolibrary.org/obo/CHEBI_15966	An optically active form of glutamic acid having D-configuration.	
UBERON:0012359	pedal digitopodium bone	biolink:AnatomicalEntity	mondo			bone of hindlimb digitopodium	http://purl.obolibrary.org/obo/UBERON_0012359	A bone that is part of a the pedal digitopodium skeleton - i.e. the toes or the metatarsal skeleton.	
UBERON:0000382	apocrine sweat gland	biolink:AnatomicalEntity	mondo			glandula sudorifera apocrina	http://purl.obolibrary.org/obo/UBERON_0000382	Apocrine sweat glands are sweat glands composed of a coiled secretory portion located at the junction of the dermis and subcutaneous fat, from which a straight portion inserts and secretes into the infundibular portion of the hair follicle. The ducts of apocrine glands open into the canals of hair follicles. The stimulus for the secretion of apocrine sweat glands is adrenaline, which is a hormone carried in the blood[WP].	
UBERON:0000388	epiglottis	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0000388	A part of the pharynx that consists of a flap of elastic cartilage tissue plus a mucous membrane covering, attached to the entrance of the larynx. The epiglottis is found at the root of the tongue and folds back over the entrance to the larynx during swallowing, preventing inhalation of food or drink[MP,modified]	
UBERON:0000389	lens cortex	biolink:AnatomicalEntity	mondo			cortex of lens	http://purl.obolibrary.org/obo/UBERON_0000389	Tissue that surrounds the lens nucleus	
UBERON:0000383	musculature of body	biolink:AnatomicalEntity	mondo			vertebrate muscular system|musculature system|muscle system of body|set of all muscles|set of muscles of body|muskelsystem|muscular system|muscle system	http://purl.obolibrary.org/obo/UBERON_0000383	The subdivision of the musculoskeletal system that consists of all the muscles of the body[VSAO, modified].	
ECTO:9002148	polycyclic hydrocarbon exposure	biolink:OntologyClass	mondo			exposure to polycyclic hydrocarbon	http://purl.obolibrary.org/obo/ECTO_9002148	An exposure to polycyclic hydrocarbon.	
HGNC:7001	MEIS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7001		
HGNC:9666	PTPRC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9666		
ECTO:9002146	acid exposure	biolink:OntologyClass	mondo			exposure to acid	http://purl.obolibrary.org/obo/ECTO_9002146	An exposure to acid.	
MONDO:0003513	gastric teratoma	biolink:Disease	mondo	NCIT:C5259|UMLS:C1333790|DOID:5561		teratoma of stomach|stomach teratoma|teratoma of the stomach|gastric teratoma	http://purl.obolibrary.org/obo/MONDO_0003513	A mature or immature teratoma that arises from the stomach.	NCIT:C5259|UMLS:C1333790|DOID:5561
MONDO:0003514	malignant teratoma	biolink:Disease	mondo	NCIT:C4287|DOID:5563		primary malignant extragonadal teratoma|malignant extragonadal teratoma|teratoma, malignant|immature teratoma	http://purl.obolibrary.org/obo/MONDO_0003514	A malignant form of teratoma.	DOID:5563|NCIT:C4287
MONDO:0003515	fallopian tube teratoma	biolink:Disease	mondo	DOID:5564|UMLS:C1517127|NCIT:C40131		fallopian tube teratoma	http://purl.obolibrary.org/obo/MONDO_0003515	A teratoma that arises from the fallopian tube. It is a rare tumor, often found incidentally.	DOID:5564|UMLS:C1517127|NCIT:C40131
MONDO:0003516	adult teratoma	biolink:Disease	mondo	NCIT:C9013|DOID:5565|UMLS:C1368898		teratoma|teratoma of adults|adult teratoma, NOS|adult teratoma	http://purl.obolibrary.org/obo/MONDO_0003516	A teratoma that occurs in an adult.	DOID:5565|UMLS:C1368898|NCIT:C9013
MONDO:0003510	malignant testicular germ cell tumor	biolink:Disease	mondo	DOID:5556|UMLS:C0855197|NCIT:C9063|ICD9:186.9|SCTID:713646001		malignant germ cell tumor of testis|malignant testicular germ cell neoplasm|testicular malignant germ cell cancer|testicular ca. (no germ/tropho.)|malignant germ cell neoplasm of testis|testicular germ cell cancer|malignant germ cell neoplasm of the testis|malignant testicular germ cell tumor|testicular cancer (excluding germ cell or trophoblastic cancer)|testicular cancer|malignant germ cell tumor of the testis	http://purl.obolibrary.org/obo/MONDO_0003510	A malignant tumor predominantly affecting young men and often associated with cryptorchidism. Seminoma is the most frequently seen malignant testicular germ cell tumor, followed by embryonal carcinoma and yolk sac tumor.	NCIT:C9063|DOID:5556|UMLS:C0855197|SNOMEDCT:713646001
MONDO:0003511	obsolete testicular germ cell cancer	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003511		
MONDO:0003512	mediastinal mesenchymal tumor	biolink:Disease	mondo	DOID:5560|NCIT:C6637|UMLS:C1334669		mediastinal soft tissue neoplasm|soft tissue tumor of mediastinum|soft tissue tumor of the mediastinum|mediastinal soft tissue tumor|soft tissue neoplasm of the mediastinum|soft tissue neoplasm of mediastinum	http://purl.obolibrary.org/obo/MONDO_0003512	A benign or malignant soft tissue neoplasm of the mediastinum. Representative examples of benign mediastinal soft tissue neoplasms include chondroma, leiomyoma, lipoma, and rhabdomyoma. Representative examples of malignant mediastinal soft tissue neoplasms include angiosarcoma, leiomyosarcoma, liposarcoma, osteosarcoma, rhabdomyosarcoma, and synovial sarcoma.	NCIT:C6637|UMLS:C1334669|DOID:5560
UBERON:0012354	acropodium region	biolink:AnatomicalEntity	mondo			set of digits|acropodial segment of autopod|acropodial limb segment|acropodial region	http://purl.obolibrary.org/obo/UBERON_0012354	The segment of the autopod that is distal to the metapodial region and consists of the digits.	
UBERON:0012353	fin skeleton	biolink:AnatomicalEntity	mondo			skeleton of fin	http://purl.obolibrary.org/obo/UBERON_0012353	Skeletal subdivision consisting of all the skeletal elements in a single fin.	
UBERON:0012351	urachal lumen	biolink:AnatomicalEntity	mondo			urachus lumen	http://purl.obolibrary.org/obo/UBERON_0012351	A anatomical space that is enclosed by a urachus.	
UBERON:0012358	manual digitopodium bone	biolink:AnatomicalEntity	mondo			bone of forelimb digitopodium	http://purl.obolibrary.org/obo/UBERON_0012358	A bone that is part of a the manual digitopodium skeleton - i.e. the fingers or the metacarpal skeleton.	
UBERON:0012357	digitopodium bone	biolink:AnatomicalEntity	mondo			digit bone	http://purl.obolibrary.org/obo/UBERON_0012357	A bone that is part of a the digitopodium skeleton - i.e. the acropodial skeleton or the metapodial skeleton.	
UBERON:0012356	pedal acropodium region	biolink:AnatomicalEntity	mondo			acropodial region of pes|digits of foot|toes set|all toes|toes|acropodial segment of pes|set of toes|acropodial forelimb segment|pedal acropodium region	http://purl.obolibrary.org/obo/UBERON_0012356	The segment of the pes that is distal to the metatarsal region and consists of the pedal digits (toes).	
UBERON:0012355	manual acropodium region	biolink:AnatomicalEntity	mondo			anterior acropodium segment of limb|anterior acropodium region|manual acropodium|set of fingers|manual acropodium region|digits of hand|acropodial segment of manus|anterior acropodium|acropodial hindlimb segment|fingers set|all fingers|set of digits of hand|acropodial region of manus|fingers including thumb|digiti manus|manual acropodium segment of limb	http://purl.obolibrary.org/obo/UBERON_0012355	The segment of the manus that is distal to the metacarpal region and consists of the manual digits (fingers).	
HGNC:9678	PTPRO	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9678		
CHEBI:64996	EC 1.13.11.33 (arachidonate 15-lipoxygenase) inhibitor	biolink:ChemicalSubstance	mondo			linoleic acid omega(6)-lipoxygenase inhibitors|linoleic acid omega(6)-lipoxygenase inhibitor|EC 1.13.11.33 inhibitors|arachidonate:oxygen 15-oxidoreductase inhibitors|15-LOX inhibitor|arachidonate 15-lipoxygenase inhibitor|arachidonate 15-lipoxygenase (EC 1.13.11.33) inhibitor|EC 1.13.11.33 (arachidonate 15-lipoxygenase) inhibitors|omega(6) lipoxygenase inhibitors|15-lipoxygenase inhibitor|15-lipoxygenase inhibitors|omega(6) lipoxygenase inhibitor|arachidonate:oxygen 15-oxidoreductase inhibitor|15-LOX inhibitors|arachidonate 15-lipoxygenase (EC 1.13.11.33) inhibitors|arachidonate 15-lipoxygenase inhibitors|EC 1.13.11.33 inhibitor	http://purl.obolibrary.org/obo/CHEBI_64996	A lipoxygenase inhibitor that interferes with the action of arachidonate 15-lipoxygenase (EC 1.13.11.33).	
CHEBI:15956	biotin	biolink:ChemicalSubstance	mondo			cis-Tetrahydro-2-oxothieno(3,4-d)imidazoline-4-valeric acid|D-(+)-biotin|biotina|cis-Hexahydro-2-oxo-1H-thieno(3,4)imidazole-4-valeric acid|5-(2-oxohexahydro-1H-thieno[3,4-d]imidazol-4-yl)pentanoic acid|Coenzyme R|(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valeric acid|5-[(3aS,4S,6aR)-2-oxohexahydro-1H-thieno[3,4-d]imidazol-4-yl]pentanoic acid|(3aS,4S,6aR)-Hexahydro-2-oxo-1H-thieno[3,4-d]imidazole-4-valeric acid|Vitamin H|D-Biotin|cis-(+)-Tetrahydro-2-oxothieno[3,4]imidazoline-4-valeric acid|biotinum|Biotin|BIOTIN|biotine|vitamin B7	http://purl.obolibrary.org/obo/CHEBI_15956	An organic heterobicyclic compound that consists of 2-oxohexahydro-1H-thieno[3,4-d]imidazole having a valeric acid substituent attached to the tetrahydrothiophene ring. The parent of the class of biotins.	
HGNC:9679	PTPRQ	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9679		
HGNC:12502	SUMO1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12502		
UBERON:0000376	hindlimb stylopod	biolink:AnatomicalEntity	mondo			upper leg|hind propodium|hindlimb stylopodium|hind limb stylopod|proximal segment of free lower limb|stylopod of hindlimb|stylopod of hind limb|femur|thigh|stylopod of lower limb|hind limb stylopodium|hindlimb propodium|hindlimb stylopod	http://purl.obolibrary.org/obo/UBERON_0000376	The part of the hindlimb between pelvis and the knee, corresponding to the femur.	
NCBITaxon:120793	Mycobacterium avium complex (MAC)	organism taxon	mondo	GC_ID:11|PMID:30231956|PMID:9103630|PMID:1581195|PMID:8347508		MAC	http://purl.obolibrary.org/obo/NCBITaxon_120793		
UBERON:0000377	maxillary nerve	biolink:AnatomicalEntity	mondo			second division of trigeminal nerve|nervus maxillaris [v2]|nervus maxillaris [vb]|nervus maxillaris (Vb; V2)|ramus maxillaris (ramus V2)|maxillary division [V2]|maxillary division [Vb]|n. maxillaris|maxillary nerve [Vb]|maxillary nerve [V2]|trigeminal nerve maxillary division|second division of fifth cranial nerve|trigeminal V nerve maxillary division|maxillary division of fifth cranial nerve|maxillary division of trigeminal nerve (Vb; V2)|nervus maxillaris	http://purl.obolibrary.org/obo/UBERON_0000377	The sensory nerve subdivision of the trigeminal nerve that transmits sensory information from the palate, upper teeth and gingiva, the skin between the palpebral fissure and the mouth, and from the nasal cavity and maxillary sinuses.	
UBERON:0000378	tongue muscle	biolink:AnatomicalEntity	mondo			muscle organ of tongue|muscle of tongue|tongue skeletal muscle|skeletal muscle tissue of tongue|tongue skeletal muscle tissue|musculi linguae	http://purl.obolibrary.org/obo/UBERON_0000378	The muscular portion of the tongue.	
HGNC:9670	PTPRF	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9670		
UBERON:0000379	tracheal mucosa	biolink:AnatomicalEntity	mondo			mucosa of windpipe|organ mucosa of windpipe|mucous membrane of windpipe|trachea mucosa|trachea organ mucosa|windpipe mucosa of organ|windpipe mucosa|windpipe organ mucosa|organ mucosa of trachea|mucous membrane of trachea|trachea mucosa of organ|mucosa of trachea|tracheal mucous membrane|tunica mucosa tracheae|tunica mucosa (tracheae)|windpipe mucous membrane|mucosa of organ of trachea|mucosa of organ of windpipe|trachea mucous membrane	http://purl.obolibrary.org/obo/UBERON_0000379	A mucosa that is part of a respiratory airway.	
HGNC:7010	MEN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7010		
MONDO:0003506	pulmonary artery choriocarcinoma	biolink:Disease	mondo	DOID:5547|UMLS:C1335571|NCIT:C5381		choriocarcinoma of pulmonary artery|choriocarcinoma of the pulmonary artery|syncytioma of pulmonary artery|pulmonary artery choriocarcinoma (disease)|syncytioma of the pulmonary artery|pulmonary artery chorioepithelioma|pulmonary artery syncytioma|pulmonary artery choriocarcinoma|chorioepithelioma of pulmonary artery|chorioepithelioma of the pulmonary artery	http://purl.obolibrary.org/obo/MONDO_0003506	A rare choriocarcinoma that arises from a pulmonary artery.	DOID:5547|NCIT:C5381|UMLS:C1335571
HGNC:7013	MEOX1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7013		
MONDO:0003507	choriocarcinoma of ovary	biolink:Disease	mondo	SCTID:254870004|UMLS:C0346181|NCIT:C4515|DOID:5550|EFO:1000413		ovarian choriocarcinoma|germ cell choriocarcinoma of the ovary|germ cell choriocarcinoma of ovary|ovarian germ cell choriocarcinoma|choriocarcinoma of the ovary|choriocarcinoma of ovary|ovary choriocarcinoma (disease)	http://purl.obolibrary.org/obo/MONDO_0003507	A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma.	DOID:5550|NCIT:C4515|UMLS:C0346181|SNOMEDCT:254870004
MONDO:0003508	choriocarcinoma of testis	biolink:Disease	mondo	EFO:1000564|UMLS:C0238449|NCIT:C7733|DOID:5551|ONCOTREE:TCCA		testicular choriocarcinoma|choriocarcinoma|choriocarcinoma of testis|choriocarcinoma of the testis|testis choriocarcinoma (disease)	http://purl.obolibrary.org/obo/MONDO_0003508	A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts.	UMLS:C0238449|DOID:5551|NCIT:C7733
CHEBI:76971	Escherichia coli metabolite	biolink:ChemicalSubstance	mondo			Escherichia coli metabolites|E.coli metabolites|E.coli metabolite	http://purl.obolibrary.org/obo/CHEBI_76971	Any bacterial metabolite produced during a metabolic reaction in Escherichia coli.	
UBERON:0000375	mandibular nerve	biolink:AnatomicalEntity	mondo			n. mandibularis|mandibular nerve [V3]|mandibular nerve [Vc]|mandibular division of fifth cranial nerve|third division of trigeminal nerve|trigeminal nerve mandibular division|inferior maxillary nerve|mandibular division of trigeminal nerve [Vc; V3]|third division of fifth cranial nerve|nervus mandibularis [v3]|nervus mandibularis [vc]|ramus mandibularis (ramus V3)|nervus mandibularis [Vc; V3]|nervus mandibularis|trigeminal V nerve mandibular division|mandibular division [V3]|mandibular division [Vc]	http://purl.obolibrary.org/obo/UBERON_0000375	The motor and sensory nerve subdivision of the trigeminal nerve that transmits sensory information from the auricle, the external acoustic meatus, tympanic membrane, temporal region, the cheek, the skin overlying the mandible, the anterior portion of the tongue, the floor of the mouth, lower teeth and gingiva and transmits motor information from the muscles of mastication, the mylohyoid muscle and digastric muscle and the muscles tensor tympani and tensor veli palatini.	
MONDO:0003509	pineal region choriocarcinoma	biolink:Disease	mondo	DOID:5553|UMLS:C1335414|NCIT:C6759		choriocarcinoma of the pineal region|choriocarcinoma of pineal region|choriocarcinoma of the pineal area|choriocarcinoma of pineal area|pineal choriocarcinoma|pineal area choriocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003509	A choriocarcinoma (disease) that involves the pineal body.	DOID:5553|NCIT:C6759|UMLS:C1335414
CHEBI:27933	beta-lactam antibiotic	biolink:ChemicalSubstance	mondo			beta-lactam antibiotics|beta-Lactam antibiotics	http://purl.obolibrary.org/obo/CHEBI_27933	An organonitrogen heterocyclic antibiotic that contains a beta-lactam ring.	
UBERON:0000358	blastocyst	biolink:AnatomicalEntity	mondo			blastocystis|blastula	http://purl.obolibrary.org/obo/UBERON_0000358	The mammalian blastocyst is a hollow ball of cells containing two cell types, the inner cell mass and the trophectoderm[GO].	
ECTO:9002130	food preservative exposure	biolink:OntologyClass	mondo			exposure to food preservative	http://purl.obolibrary.org/obo/ECTO_9002130	An exposure to food preservative.	
UBERON:0012344	holocrine gland	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0012344	any exocrine gland whose secretion consists of its own disintegrated secretory cells along with its secretory product; holocrine secretions are produced in the cytoplasm of the cell and released by the rupture of the plasma membrane, which destroys the cell and results in the secretion of the product into the lumen.	
HGNC:7027	MERTK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7027		
HGNC:9689	PTS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9689		
UBERON:0012337	cauda equina	biolink:AnatomicalEntity	mondo			filum terminale	http://purl.obolibrary.org/obo/UBERON_0012337	The cauda equina is a structure within the lower end of the spinal column of most vertebrates, that consists of nerve roots and rootlets from above. The space in which the cerebrospinal fluid is present is actually an extension of the subarachnoid space.	
HGNC:7029	MET	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7029		
UBERON:0000365	urothelium	biolink:AnatomicalEntity	mondo			transitional epithelium|epithelium transitionale|uroepithelium|transitional epithelium	http://purl.obolibrary.org/obo/UBERON_0000365	An epithelial tissue layer that lines much of the urinary tract, including the renal pelvis, the ureters, the bladder, and parts of the urethra.	
UBERON:0000366	flexor muscle	biolink:AnatomicalEntity	mondo			flexor	http://purl.obolibrary.org/obo/UBERON_0000366	a skeletal muscle whose contraction bends a joint.	
UBERON:0000362	renal medulla	biolink:AnatomicalEntity	mondo			medullary pyramids|renal pyramids set|renal pyramids|medulla of kidney|renal medullae set|medulla renalis|renal medullae|kidney medulla|pyramides renales|renal marrow	http://purl.obolibrary.org/obo/UBERON_0000362	the inner portion of the kidney consisting of the renal pyramids	
HGNC:9688	CAVIN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9688		
HGNC:9685	PTPRZ1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9685		
UBERON:0000348	ophthalmic nerve	biolink:AnatomicalEntity	mondo			ophthalmic division|ethmoidal nerve|trigeminal nerve ophthalmic division|profundus nerve|ophthalmic division of fifth cranial nerve|first division of trigeminal nerve|first division of fifth cranial nerve|ophthalmic division of trigeminal nerve (V1)|ophthalmic division of trigeminal nerve (Va)|profundal nerve|nervus ophthalmicus [v1]|opthalmic nerve|nervus ophthalmicus [va]|ramus opthalmicus profundus (ramus V1)|trigeminal V nerve ophthalmic division|nervus ophthalmicus (V1)|nervus ophthalmicus (Va)|first branch of fifth cranial nerve|cranial nerve V, branch V1|ophthalmic nerve [Va]|ophthalmic nerve [V1]|profundus|ophthalmic division [V1]|ophthalmic division [Va]|ciliary nerve|rostral branch of trigeminal nerve	http://purl.obolibrary.org/obo/UBERON_0000348	The sensory nerve subdivision of the trigeminal nerve that transmits sensory information from the orbit and its contents, the nasal cavity and the skin of the nose and forehead.	
UBERON:0000349	limbic system	biolink:AnatomicalEntity	mondo			visceral brain	http://purl.obolibrary.org/obo/UBERON_0000349	A set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex].	
UBERON:0012332	broad ligament of uterus	biolink:AnatomicalEntity	mondo			broad uterine ligament|broad ligament|ligamentum latum uteri	http://purl.obolibrary.org/obo/UBERON_0012332	A broad fold of peritoneum that extends from the side of the uterus to the wall of the pelvis.	
HP:0032101	Unusual infection	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0032101	A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections.	
UBERON:0012330	nasal-associated lymphoid tissue	biolink:AnatomicalEntity	mondo			NALT|naso-pharyngeal lymphoid tissue	http://purl.obolibrary.org/obo/UBERON_0012330	The lymphocytic cell population present in the mucosa of the nasopharyngeal duct of some animals.	
UBERON:0012336	perianal skin	biolink:AnatomicalEntity	mondo			skin of perianal area	http://purl.obolibrary.org/obo/UBERON_0012336	A zone of skin that is part of the area surrounding the anus.	
UBERON:0012329	keratinized stratified squamous epithelium	biolink:AnatomicalEntity	mondo			epithelium stratificatum squamosum cornificatum	http://purl.obolibrary.org/obo/UBERON_0012329	Keratinized stratified squamous epithelium is a stratified squamous epithelium, the cells of which synthesize and accumulate keratin.	
UBERON:0000355	pharyngeal mucosa	biolink:AnatomicalEntity	mondo			organ mucosa of pharynx|pharynx mucosa of organ|mucous membrane of pharynx|mucosa of pharynx|tunica mucosa pharyngea|mucous membrane of the pharynx|pharynx mucous membrane|tunica mucosa pharyngis|mucosa of organ of pharynx|pharynx mucosa|pharynx organ mucosa	http://purl.obolibrary.org/obo/UBERON_0000355	A mucosa that is part of a pharynx [Automatically generated definition].	
ECTO:9002131	flame retardant exposure	biolink:OntologyClass	mondo			exposure to flame retardant	http://purl.obolibrary.org/obo/ECTO_9002131	An exposure to flame retardant.	
UBERON:0000353	parenchyma	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0000353	functional part of an organ in the body. This is in contrast to the stroma, which refers to the structural tissue of organs, being exactly, connective tissues.	
UBERON:0002916	central sulcus	biolink:AnatomicalEntity	mondo			CS|central cerebral sulcus|central sulcus of Rolando|central fissure|sulcus centralis cerebri|fissure of Rolando|rolandic fissure|sulcus of Rolando|sulcus centralis|sulcus centralis (rolandi)	http://purl.obolibrary.org/obo/UBERON_0002916	The central sulcus is a fold in the cerebral cortex of brains in vertebrates. Also called the central fissure, it was originally called the fissure of Rolando or the Rolandic fissure, after Luigi Rolando. The central sulcus is a prominent landmark of the brain, separating the parietal lobe from the frontal lobe and the primary motor cortex from the primary somatosensory cortex. [WP,unvetted].	
ENVO:01000703	hydrological precipitation process	biolink:OntologyClass	mondo			precipitation	http://purl.obolibrary.org/obo/ENVO_01000703	Hydrological precipitation is a process during which any product of the condensation of atmospheric water vapour is pulled to the planetary surface by gravity.	
HP:0010719	Abnormality of hair texture	biolink:PhenotypicFeature	mondo	UMLS:C4073290|UMLS:C4072881|UMLS:C4023722|UMLS:C4072880		Abnormality of hair curl pattern|Abnormality of hair volume|Abnormality of hair consistency|Abnormality of hair texture	http://purl.obolibrary.org/obo/HP_0010719	An abnormality of the texture of the hair.	
NCBITaxon:1485	Clostridium	organism taxon	mondo	PMID:27488356|GC_ID:11|PMID:26643615		Anaerobacter	http://purl.obolibrary.org/obo/NCBITaxon_1485		
ENVO:01000739	habitat	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000739	An environmental system which can sustain and allow the growth of an ecological population.	
HP:0010702	Increased circulating antibody level	biolink:PhenotypicFeature	mondo	MSH:D006942|UMLS:C0541985|SNOMEDCT_US:129646001|UMLS:C1306857|SNOMEDCT_US:127388009|UMLS:C2048011|UMLS:C0151669|UMLS:C0020455		Increased gamma globulin|Increased antibody level in blood|Elevated immunoglobulin levels|Raised immunoglobulin levels|Increased serum gamma globulin|Increased immunoglobulin level|Hypergammaglobulinaemia|Hyperglobulinemia|Hypergammaglobulinemia	http://purl.obolibrary.org/obo/HP_0010702	An increased level of gamma globulin (immunoglobulin) in the blood.	
HP:0010701	Abnormal immunoglobulin level	biolink:PhenotypicFeature	mondo	UMLS:C1855755		Abnormal serum immunoglobulin levels|Abnormal serum immunoglobulin concentration|Abnormal serum level of immunoglobulin|Immunoglobulin abnormality|Abnormal immunoglobulin concentration	http://purl.obolibrary.org/obo/HP_0010701	An abnormal deviation from normal levels of immunoglobulins in blood.	
NCBITaxon:1491	Clostridium botulinum	organism taxon	mondo	PMID:15244052|PMID:10028279|GC_ID:11		Clostridium putrificum|Pacinia putrifica|Botulobacillus botulinus|Bacillus putrificus|Bacillus botulinus|Ermengemillus botulinus	http://purl.obolibrary.org/obo/NCBITaxon_1491		
ENVO:01000724	condensation process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000724	Condensation is a process during which a gas undergoes a phase transition into a liquid.	
NCBITaxon:1496	Clostridioides difficile	organism taxon	mondo	PMID:23834245|PMID:27902176|GC_ID:11|PMID:27370902		Clostridium difficile|Clostridium difficle|Bacillus difficilis|Peptoclostridium difficile	http://purl.obolibrary.org/obo/NCBITaxon_1496		
HP:0009714	Abnormality of the epididymis	biolink:PhenotypicFeature	mondo	UMLS:C4024222			http://purl.obolibrary.org/obo/HP_0009714	An abnormality of the epididymis.	
CHEBI:50336	4-hydroxybenzyl group	biolink:ChemicalSubstance	mondo			4-hydroxybenzyl|tyrosine side-chain	http://purl.obolibrary.org/obo/CHEBI_50336		
CHEBI:50334	pyridinium ion	biolink:ChemicalSubstance	mondo			pyridinium ions	http://purl.obolibrary.org/obo/CHEBI_50334		
UBERON:0002956	granular layer of cerebellar cortex	biolink:AnatomicalEntity	mondo			cerebellum granule cell layer|cerebellar granular layer|cerebellum granule layer|granular layer of cerebellum|stratum granulosum corticis cerebelli|cerebellar granule cell layer|granule cell layer of cerebellar cortex|cerebellar granule layer|stratum granulosum cerebelli	http://purl.obolibrary.org/obo/UBERON_0002956	The granular layer is the innermost layer of the cerebellar cortex. This layer contains densely packed small neurons, mostly granule cells. Some Golgi cells are found at the outer border. Granule neurons send parallel fibers to the upper molecular layer, where they synapse with Purkinje cell dendrites. Mossy fibers from the pontine nuclei in the white matter synapse with granule cell axons, Golgi cell axons and unipolar brush interneuron axons at cerebellar glomeruli in the granule cell layer.	
HP:0010762	Chordoma	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:50007008|MSH:D002817|NCIT:C2947|UMLS:C0008487			http://purl.obolibrary.org/obo/HP_0010762	A chordoma is a tumors that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis.	
HP:0010766	Ectopic calcification	biolink:PhenotypicFeature	mondo	UMLS:C3806226			http://purl.obolibrary.org/obo/HP_0010766	Deposition of calcium salts in a tissue or location in which calcification does not normally occur.	
HP:0010765	Palmar hyperkeratosis	biolink:PhenotypicFeature	mondo	UMLS:C4023710			http://purl.obolibrary.org/obo/HP_0010765	Hyperkeratosis affecting the palm of the hand.	
HP:0009763	Limb pain	biolink:PhenotypicFeature	mondo	UMLS:C0030196|SNOMEDCT_US:90834002		Pain in extremities|Limb pain	http://purl.obolibrary.org/obo/HP_0009763	Chronic pain in the limbs with no clear focal etiology.	
UBERON:0000301	amniotic cavity	biolink:AnatomicalEntity	mondo			cavitas amniotica	http://purl.obolibrary.org/obo/UBERON_0000301	A closed space between the embryo and the amnion which contains the amniotic fluid and is formed by the fusion of the parts of the anterior and posterior amniotic folds.	
BSPO:0005001	intersects_midsagittal_plane_of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BSPO_0005001	X intersects_median_plane of iff X crosses the midine plane of Y.	
CHEBI:64909	poison	biolink:ChemicalSubstance	mondo			toxic substances|toxic agent|poisons|poisonous agent|poisonous agents|toxic substance|toxic agents|poisonous substance|poisonous substances	http://purl.obolibrary.org/obo/CHEBI_64909	Any substance that causes disturbance to organisms by chemical reaction or other activity on the molecular scale, when a sufficient quantity is absorbed by the organism.	
CHEBI:50325	proteinogenic amino-acid side-chain group	biolink:ChemicalSubstance	mondo			canonical amino-acid side-chains|proteinogenic amino-acid side-chain|proteinogenic amino-acid side-chain groups|proteinogenic amino-acid side-chains|canonical amino-acid side-chain	http://purl.obolibrary.org/obo/CHEBI_50325	A univalent organyl group obtained by cleaving the bond from C-2 to the side chain of a proteinogenic amino-acid.	
CHEBI:25389	monohydroxybenzoic acid	biolink:ChemicalSubstance	mondo			monohydroxybenzoic acids	http://purl.obolibrary.org/obo/CHEBI_25389	Any hydroxybenzoic acid having a single phenolic hydroxy substituent on the benzene ring.	
CHEBI:25388	monohydroxybenzoate	biolink:ChemicalSubstance	mondo			monohydroxybenzoates	http://purl.obolibrary.org/obo/CHEBI_25388	A hydroxybenzoate carrying a single hydroxy substituent at unspecified position.	
CHEBI:50329	2-carboxyethyl group	biolink:ChemicalSubstance	mondo			2-carboxyethyl|glutamic acid side-chain	http://purl.obolibrary.org/obo/CHEBI_50329		
UBERON:0014930	perivascular space	biolink:AnatomicalEntity	mondo			VRS|perivascular spaces|perivascular region|Virchow-Robin space	http://purl.obolibrary.org/obo/UBERON_0014930	The space between a blood vessel and the pia mater.	
CHEBI:25384	monocarboxylic acid	biolink:ChemicalSubstance	mondo			monocarboxylic acids	http://purl.obolibrary.org/obo/CHEBI_25384	An oxoacid containing a single carboxy group.	
CHEBI:64911	antimitotic	biolink:ChemicalSubstance	mondo			mitosis inhibitors|mitotic inhibitors|mitotic inhibitor|mitosis inhibitor|antimitotics	http://purl.obolibrary.org/obo/CHEBI_64911	Any compound that inhibits cell division (mitosis).	
CHEBI:50313	onium cation	biolink:ChemicalSubstance	mondo			onium ion|onium ions|onium cations|onium cations	http://purl.obolibrary.org/obo/CHEBI_50313	Mononuclear cations derived by addition of a hydron to a mononuclear parent hydride of the pnictogen, chalcogen and halogen families.	
CHEBI:50312	onium compound	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_50312		
CHEBI:25355	mitochondrial respiratory-chain inhibitor	biolink:ChemicalSubstance	mondo			mitochondrial respiratory chain inhibitors|mitochondrial electron-transport chain inhibitor|mitochondrial electron transport chain inhibitors	http://purl.obolibrary.org/obo/CHEBI_25355		
UBERON:2007013	preplacodal ectoderm	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_2007013	Non neural ectoderm that surrounds the presumptive neural plate and gives rise to neurogenic placodes.	
CHEBI:50315	chloronium	biolink:ChemicalSubstance	mondo			chloranium|chloronium|[ClH2](+)|H2Cl(+)	http://purl.obolibrary.org/obo/CHEBI_50315		
CHEBI:76907	EC 4.2.1.* (hydro-lyases) inhibitor	biolink:ChemicalSubstance	mondo			EC 4.2.1.* (hydro-lyases) inhibitors|EC 4.2.1.* (hydro-lyase) inhibitor|hydro-lyase (EC 4.2.1.*) inhibitors|EC 4.2.1.* inhibitors|EC 4.2.1.* inhibitor|hydro-lyase (EC 4.2.1.*) inhibitor|EC 4.2.1.* (hydro-lyase) inhibitors	http://purl.obolibrary.org/obo/CHEBI_76907	An EC 4.2.* (C-O lyase) inhibitor that interferes with the action of any hydro-lyase (EC 4.2.1.*).	
HGNC:9603	PTGIS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9603		
HGNC:9607	PTHLH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9607		
HGNC:9608	PTH1R	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9608		
HGNC:9606	PTH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9606		
HP:0009743	Distichiasis	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:95339000|UMLS:C0423848	hposlim_core	Distichiasis of eyelid eyelashes	http://purl.obolibrary.org/obo/HP_0009743	Double rows of eyelashes.	
CHEBI:37332	tropane alkaloid	biolink:ChemicalSubstance	mondo			tropane alkaloids	http://purl.obolibrary.org/obo/CHEBI_37332		
UBERON:0002926	gustatory epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0002926	A sensory epithelium that is part of a gustatory system.	
UBERON:0002925	trigeminal nucleus	biolink:AnatomicalEntity	mondo			nucleus tractus mesencephali nervi trigeminalis|nucleus mesencephalicus nervi trigemini|trigeminal nuclear complex nucleus|trigeminal V nucleus|trigeminal nucleus|nucleus of trigeminal nuclear complex|nucleus mesencephalicus trigeminalis	http://purl.obolibrary.org/obo/UBERON_0002925	A nucleus of brain that is part of a trigeminal nuclear complex.	
CHEBI:25367	molecule	biolink:ChemicalSubstance	mondo			molecula|neutral molecular compounds|molecules|Molekuel|molecule	http://purl.obolibrary.org/obo/CHEBI_25367	Any polyatomic entity that is an electrically neutral entity consisting of more than one atom.	
UBERON:0002928	dentate gyrus polymorphic layer	biolink:AnatomicalEntity	mondo			CA4|polymorph layer of the dentate gyrus	http://purl.obolibrary.org/obo/UBERON_0002928	A cellular layer of the dentate gyrus enclosed by the granule cell layer. A number of cell types are located in the polymorphic layer but the most prominent is the mossy cell.	
UBERON:0002921	longitudinal fissure	biolink:AnatomicalEntity	mondo			longitudinal sulcus|longitudinal fissure of the cerebrum|sagittal fissure|fissura longitudinalis cerebrales|longitudinal cerebral fissure|LF|hemispheric sulcus|longitudinal fissure of hemisphere|fissura interhemispherica|fissura longitudinalis magna|medial longitudinal fissure|fissura longitudinalis cerebri|interhemispheric fissure	http://purl.obolibrary.org/obo/UBERON_0002921	The deep groove which separates the two hemispheres of the vertebrate brain. The falx cerebri, a dural brain covering, lies within the medial longitudinal fissure. [WP,unvetted].	
CHEBI:25362	elemental molecule	biolink:ChemicalSubstance	mondo			homoatomic molecule|homoatomic molecules	http://purl.obolibrary.org/obo/CHEBI_25362	A molecule all atoms of which have the same atomic number.	
NCBITaxon:418107	Plasmodium (Laverania)	organism taxon	mondo	GC_ID:1		Laverania	http://purl.obolibrary.org/obo/NCBITaxon_418107		
UBERON:0014907	intersomitic vessel	biolink:AnatomicalEntity	mondo			intersegmental vessel|intersomitic blood vessel|intersegmental vessels|segmental vessel|intersomitic vessels	http://purl.obolibrary.org/obo/UBERON_0014907	One of the primary blood vessel sprouts that originate from the dorsal aorta and posterior cardinal vein and align dorsoventrally at the myotomal boundaries between somites.	
NCBITaxon:418103	Plasmodium (Plasmodium)	organism taxon	mondo	GC_ID:1		Plasmodium	http://purl.obolibrary.org/obo/NCBITaxon_418103		
HP:0010732	Nodular changes affecting the eyelids	biolink:PhenotypicFeature	mondo	UMLS:C4023716		Eyelid nodules	http://purl.obolibrary.org/obo/HP_0010732	Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more.	
UBERON:0014903	primordial vasculature	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0014903	A portion of tissue that will develop into vasculature.	
HP:0009755	Ankyloblepharon	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:400952003|UMLS:C0339182|SNOMEDCT_US:193953008|MSH:C536373|UMLS:C1302999	hposlim_core	Ankyloblepharon filiforme adnatum|Eyelids stuck together|Adhesion of eyelids|Eyelid synechiae	http://purl.obolibrary.org/obo/HP_0009755	Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue.	
UBERON:0014908	cerebellopontine angle	biolink:AnatomicalEntity	mondo			cerebellopontile angle|cerebellopontine angle|angulus cerebellopontinus	http://purl.obolibrary.org/obo/UBERON_0014908	Junction between the cerebellum and the pons.	
GO:0072330	monocarboxylic acid biosynthetic process	biolink:OntologyClass	mondo			monocarboxylic acid anabolism|monocarboxylic acid synthesis|monocarboxylic acid formation|monocarboxylic acid biosynthesis	http://purl.obolibrary.org/obo/GO_0072330	The chemical reactions and pathways resulting in the formation of monocarboxylic acids, any organic acid containing one carboxyl (-COOH) group.	
GO:0098962	regulation of postsynaptic neurotransmitter receptor activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0098962	Any process that modulates the frequency, rate or extent of neurotransmitter receptor activity involved in synaptic transmission. Modulation may be via an effect on ligand affinity, or effector funtion such as ion selectivity or pore opening/closing in ionotropic receptors.	
GO:0098960	postsynaptic neurotransmitter receptor activity	biolink:OntologyClass	mondo			neurotransmitter receptor activity involved in chemical synaptic transmission	http://purl.obolibrary.org/obo/GO_0098960	Neurotransmitter receptor activity occuring in the postsynaptic membrane during synaptic transmission.	
ENVO:01000676	contaminated air	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000676	Contaminated air is air which has sufficient concentrations of environmental pollutants such that it may adversely affect a given ecosystem.	
CL:0002427	resting double-positive thymocyte	biolink:Cell	mondo			T.DP.sm.Th	http://purl.obolibrary.org/obo/CL_0002427	A double-positive, alpha-beta thymocyte that is small and not proliferating.	
GO:1902533	positive regulation of intracellular signal transduction	biolink:OntologyClass	mondo			positive regulation of intracellular signaling cascade|upregulation of signal transduction via intracellular signaling cascade|up regulation of intracellular signal transduction|up-regulation of signal transmission via intracellular cascade|activation of signal transduction via intracellular signaling cascade|upregulation of intracellular signaling chain|up regulation of intracellular signal transduction pathway|activation of intracellular signal transduction|positive regulation of intracellular signal transduction pathway|up regulation of signal transmission via intracellular cascade|upregulation of intracellular signaling cascade|up-regulation of intracellular signaling pathway|positive regulation of signal transmission via intracellular cascade|upregulation of intracellular signal transduction|up-regulation of signal transduction via intracellular signaling cascade|up regulation of intracellular signaling pathway|upregulation of intracellular signal transduction pathway|activation of intracellular signal transduction pathway|up-regulation of intracellular signaling chain|positive regulation of intracellular signaling pathway|up regulation of signal transduction via intracellular signaling cascade|upregulation of signal transmission via intracellular cascade|activation of signal transmission via intracellular cascade|up-regulation of intracellular signaling cascade|activation of intracellular signaling cascade|positive regulation of intracellular protein kinase cascade|up regulation of intracellular signaling chain|positive regulation of signal transduction via intracellular signaling cascade|up-regulation of intracellular signal transduction|up regulation of intracellular signaling cascade|activation of intracellular signaling chain|upregulation of intracellular signaling pathway|positive regulation of intracellular signaling chain|activation of intracellular signaling pathway|up-regulation of intracellular signal transduction pathway	http://purl.obolibrary.org/obo/GO_1902533	Any process that activates or increases the frequency, rate or extent of intracellular signal transduction.	
CL:0002429	CD69-positive double-positive thymocyte	biolink:Cell	mondo			T.DP69+.Th	http://purl.obolibrary.org/obo/CL_0002429	A double-positive thymocyte that is CD69-positive and has begun positive selection.	
CL:0002428	double-positive blast	biolink:Cell	mondo			activated double-positive thymocyte|T.DPb.Th	http://purl.obolibrary.org/obo/CL_0002428	A double-positive thymocyte that is large (i.e. has a high forward scatter signal in flow cytometry) and is actively proliferating.	
GO:1902531	regulation of intracellular signal transduction	biolink:OntologyClass	mondo			regulation of intracellular protein kinase cascade|regulation of intracellular signaling pathway|regulation of intracellular signaling cascade|regulation of signal transduction via intracellular signaling cascade|regulation of intracellular signaling chain|regulation of intracellular signal transduction pathway|regulation of signal transmission via intracellular cascade	http://purl.obolibrary.org/obo/GO_1902531	Any process that modulates the frequency, rate or extent of intracellular signal transduction.	
GO:1902532	negative regulation of intracellular signal transduction	biolink:OntologyClass	mondo			down-regulation of signal transduction via intracellular signaling cascade|negative regulation of signal transduction via intracellular signaling cascade|downregulation of intracellular signaling cascade|downregulation of signal transmission via intracellular cascade|down regulation of intracellular signaling pathway|down-regulation of intracellular signaling chain|negative regulation of intracellular signaling chain|down regulation of signal transduction via intracellular signaling cascade|down-regulation of intracellular signaling cascade|down-regulation of signal transmission via intracellular cascade|inhibition of intracellular signal transduction pathway|down regulation of intracellular signaling chain|downregulation of intracellular signaling pathway|inhibition of intracellular signaling cascade|inhibition of signal transmission via intracellular cascade|down-regulation of intracellular signal transduction|downregulation of signal transduction via intracellular signaling cascade|down-regulation of intracellular signal transduction pathway|negative regulation of intracellular signal transduction pathway|downregulation of intracellular signaling chain|inhibition of intracellular signaling chain|down regulation of intracellular signal transduction|negative regulation of signal transmission via intracellular cascade|inhibition of intracellular signaling pathway|down regulation of intracellular signal transduction pathway|inhibition of signal transduction via intracellular signaling cascade|down regulation of intracellular signaling cascade|down regulation of signal transmission via intracellular cascade|negative regulation of intracellular protein kinase cascade|negative regulation of intracellular signaling pathway|downregulation of intracellular signal transduction|down-regulation of intracellular signaling pathway|inhibition of intracellular signal transduction|downregulation of intracellular signal transduction pathway|negative regulation of intracellular signaling cascade	http://purl.obolibrary.org/obo/GO_1902532	Any process that stops, prevents or reduces the frequency, rate or extent of intracellular signal transduction.	
CL:0002421	nucleated reticulocyte	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002421	A reticulocyte that retains the nucleus and other organelles. Found in birds, fish, amphibians and reptiles.	
MONDO:0040566	inherited glutathione metabolism disease	biolink:Disease	mondo	UMLS:C0268518|SCTID:72262000		rare inborn error of glutathione metabolic process|inborn error of glutathione metabolism|inborn error of glutathione metabolic process|rare inborn error of glutathione metabolic process|glutathione metabolism disorder, inherited|inborn glutathione metabolic process disorder	http://purl.obolibrary.org/obo/MONDO_0040566	An acquired metabolic disease that is has its basis in the disruption of glutathione metabolic process.	SNOMEDCT:72262000|UMLS:C0268518
CL:0002420	immature T cell	biolink:Cell	mondo	CALOHA:TS-1042|BTO:0001372		immature T-cell	http://purl.obolibrary.org/obo/CL_0002420	A T cell that has not completed T cell selection.	
CL:0002423	DN2a thymocyte	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002423	A DN2 thymocyte that is Kit-hi.	
CL:0002422	enucleated reticulocyte	biolink:Cell	mondo	CALOHA:TS-0864|FMA:66785			http://purl.obolibrary.org/obo/CL_0002422	A reticulocyte lacking a nucleus and showing a basophilic reticulum under vital staining due to the presence of ribosomes.	
CL:0002425	early T lineage precursor	biolink:Cell	mondo			ETP|preT.ETP.Th	http://purl.obolibrary.org/obo/CL_0002425	A pro-T cell that is lin-negative, CD25-negative, CD127-negative, CD44-positive and kit-positive.	
CL:0002424	DN2b thymocyte	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002424	A DN2 thymocyte that is Kit-low.	
ENVO:01000665	waste role	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000665	A role that is realized in some process wherein the bearer is discarded or not utilized further.	
CL:0002437	mature CD8 single-positive thymocyte	biolink:Cell	mondo			T.8SP24-.Th	http://purl.obolibrary.org/obo/CL_0002437	A mature CD8-positive, CD4-negative alpha-beta T cell found in the thymus that is CD24-low and has high expression of the T cell receptor.	
GO:0060341	regulation of cellular localization	biolink:OntologyClass	mondo			regulation of cellular localisation	http://purl.obolibrary.org/obo/GO_0060341	Any process that modulates the frequency, rate or extent of a process in which a cell, a substance, or a cellular entity is transported to, or maintained in a specific location within or in the membrane of a cell.	
CL:0002430	CD4-intermediate, CD8-positive double-positive thymocyte	biolink:Cell	mondo			T.4int8+.Th	http://purl.obolibrary.org/obo/CL_0002430	A double-positive thymocyte that is undergoing positive selection, has high expression of the alpha-beta T cell receptor, is CD69-positive, and is in the process of down regulating the CD4 co-receptor.	
CL:0002432	CD24-positive, CD4 single-positive thymocyte	biolink:Cell	mondo			T.4SP24int.Th|CD24-positive, CD4 single-positive semimature thymocyte	http://purl.obolibrary.org/obo/CL_0002432	A CD4-positive, CD8-negative thymocyte that is CD24-positive and expresses high levels of the alpha-beta T cell receptor.	
CL:0002431	CD4-positive, CD8-intermediate double-positive thymocyte	biolink:Cell	mondo			T.4int8+.th	http://purl.obolibrary.org/obo/CL_0002431	A double-positive thymocyte that is undergoing positive selection, has high expression of the alpha-beta T cell receptor, is CD69-positive, and is in the process of down regulating the CD8 co-receptor.	
CL:0002434	CD24-positive, CD8 single-positive thymocyte	biolink:Cell	mondo			T.8SP24int.Th|CD24-positive, CD8 single-positive semimature thymocyte	http://purl.obolibrary.org/obo/CL_0002434	A CD8-positive, CD4-negative thymocyte that is CD24-positive and expresses high levels of the alpha-beta T cell receptor.	
CL:0002433	CD69-positive, CD4-positive single-positive thymocyte	biolink:Cell	mondo			intermediate CD4-single-positive|T.4SP69+.Th	http://purl.obolibrary.org/obo/CL_0002433	A CD4-positive, CD8-negative thymocyte that expresses high levels of the alpha-beta T cell receptor and is CD69-positive.	
CL:0002436	mature CD4 single-positive thymocyte	biolink:Cell	mondo			T.4SP24-.Th	http://purl.obolibrary.org/obo/CL_0002436	A mature CD4-positive, CD8-negative alpha-beta T cell found in the thymus that is CD24-low and has high expression of the T cell receptor.	
GO:0060348	bone development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060348	The process whose specific outcome is the progression of bone over time, from its formation to the mature structure. Bone is the hard skeletal connective tissue consisting of both mineral and cellular components.	
CL:0002435	CD69-positive, CD8-positive single-positive thymocyte	biolink:Cell	mondo			intermediate CD8-single-positive|T.8SP69+.Th	http://purl.obolibrary.org/obo/CL_0002435	A CD8-positive, CD4-negative thymocyte that expresses high levels of the alpha-beta T cell receptor and is CD69-positive.	
GO:0072329	monocarboxylic acid catabolic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0072329	The chemical reactions and pathways resulting in the breakdown of monocarboxylic acids, any organic acid containing one carboxyl (-COOH) group.	
GO:0098976	excitatory chemical synaptic transmission	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0098976	Synaptic transmission that results in an excitatory postsynaptic potential.	
GO:0098975	postsynapse of neuromuscular junction	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0098975	The postsynapse of a neuromuscular junction. In vertebrate muscles this includes the motor end-plate, consisting of postjunctional folds of the sarcolemma.	
GO:0072350	tricarboxylic acid metabolic process	biolink:OntologyClass	mondo			tricarboxylic acid metabolism	http://purl.obolibrary.org/obo/GO_0072350	The chemical reactions and pathways involving dicarboxylic acids, any organic acid containing three carboxyl (COOH) groups or anions (COO-).	
GO:0060374	mast cell differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060374	The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation.	
GO:0060375	regulation of mast cell differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060375	Any process that modulates the rate, frequency or extent of mast cell differentiation, the process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation.	
GO:0060376	positive regulation of mast cell differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060376	Any process that increases the rate, frequency or extent of mast cell differentiation, the process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation.	
GO:0060377	negative regulation of mast cell differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060377	Any process that decreases the rate, frequency or extent of mast cell differentiation, the process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation.	
MONDO:0015599	atopic keratoconjunctivitis	biolink:Disease	mondo	UMLS:C1274788|ICD9:370.49|SCTID:403434009|Orphanet:163934|ICD10:H16.2|MedDRA:10069664	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015599	Atopic keratoconjunctivitis is a rare and chronic allergic disease of the cornea and conjunctiva occurring in all age groups characterized by severe itching and burning sensation, conjunctival injection, photophobia and edema with serious cases leading to ulceration of the cornea which can result in blindness. It is often associated with atopic dermatitis.	SNOMEDCT:403434009|ORPHA:163934|MEDDRA:10069664|UMLS:C1274788
MONDO:0015598	acrodermatitis continua suppurativa of Hallopeau	biolink:Disease	mondo	UMLS:CN199965|Orphanet:163931|ICD10:L40.2	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015598		ORPHA:163931|UMLS:CN199965
GO:0035369	pre-B cell receptor complex	biolink:OntologyClass	mondo			pre-BCR	http://purl.obolibrary.org/obo/GO_0035369	An immunoglobulin-like complex that is present in at least the plasma membrane of pre-B cells, and that is composed of two identical immunoglobulin heavy chains and two surrogate light chains, each composed of the lambda-5 and VpreB proteins, and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins.	
CL:0002400	Fraction B/C precursor B cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002400	A precursor B cell that is AA4-positive, IgM-negative, CD19-positive, CD43-positive and HSA-positive.	
MONDO:0015593	limbic encephalitis with nCMAgs antibodies	biolink:Disease	mondo	Orphanet:163914|ICD10:G13.1	ordo_disease	limbic encephalitis with novel cell membrane antigen antibodies	http://purl.obolibrary.org/obo/MONDO_0015593		ORPHA:163914
MONDO:0015592	limbic encephalitis with LGI1 antibodies	biolink:Disease	mondo	ICD10:G04.8|SCTID:763794005|Orphanet:163908|ICD10:G13.1	ordo_disease	limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies	http://purl.obolibrary.org/obo/MONDO_0015592	Limbic encephalitis with LGI1 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive decline, psychiatric disturbances and seizures (distinctively faciobrachial dystonic seizures) in association with detection of LGI1 antibodies in serum or cerebrospinal fluid. Patients may present with confusion, hallucinations, vocalization, paranoia, tangentiality, aggressive outbursts and/or spatial disorientation, as well as obstinate hyponatremia. It is most often non-paraneoplastic, however comorbid tumors, such as small cell lung cancer and thymoma, have been reported.	ORPHA:163908|SNOMEDCT:763794005
MONDO:0015591	limbic encephalitis associated with antibodies to cell membrane antigens	biolink:Disease	mondo	Orphanet:163903|ICD10:G13.1	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015591		ORPHA:163903
GO:0072359	circulatory system development	biolink:OntologyClass	mondo			cardiovascular system development	http://purl.obolibrary.org/obo/GO_0072359	The process whose specific outcome is the progression of the circulatory system over time, from its formation to the mature structure. The circulatory system is the organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.	
MONDO:0015590	classic paraneoplastic limbic encephalitis	biolink:Disease	mondo	Orphanet:163898|ICD10:G13.1	ordo_disease	classic paraneoplastic limbic encephalitis, with or without intracellular antigens	http://purl.obolibrary.org/obo/MONDO_0015590	Classic paraneoplastic limbic encephalitis is a rare neuroimmunological disorder characterized by the sudden onset of seizures, progressive memory impairment (which may develop into dementia) and psychiatric manifestations (e.g. depression, personality changes, loss of social inhibition) associated with cancer (most commonly small-cell carcinoma of the lung) in the absence of tumor cell invasion of the nervous system. Other reported features include ataxia, dystonia, paresthesia, tremors, paranoid ideation, and hallucinations. The presence of antibodies that act on neuronal antigens (such as anti-Hu, anti-Ma2, anti-amphiphysin) are typically observed.	ORPHA:163898
GO:0072358		biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0072358		
MONDO:0015597	pustulosis palmaris et plantaris	biolink:Disease	mondo	Orphanet:163927|DOID:4398|ICD10:L40.3|SCTID:27520001|NCIT:C34888|ICD9:696.1|MedDRA:10050185|GARD:0012820|SCTID:81271001	ordo_disease	palmoplantar pustulosis|pustular psoriasis of the palms and/or soles|PPP|Lpp|acropustulosis|pustulosis of palm and sole|localized pustular psoriasis	http://purl.obolibrary.org/obo/MONDO_0015597		DOID:4398|MEDDRA:10050185|SNOMEDCT:81271001|NCIT:C34888|ORPHA:163927|SNOMEDCT:27520001|UMLS:C0030246
MONDO:0015596	non-herpetic acute limbic encephalitis	biolink:Disease	mondo	Orphanet:163924|ICD10:G04.8|SCTID:764998005	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015596	Non-herpetic acute limbic encephalitis is a rare neuroinflammatory/neuroautoimmune disease characterized by an acute (or subacute) onset of disturbance of consciousness (occasionally presenting as convulsions) and high fever, associated with cerebral lesions (on magnetic resonance imaging) that are restricted to the limbic system (particularly the hippocampi and amygdalae), in the absence of viral, bacterial, fungal, paraneoplastic and other disorders.	ORPHA:163924|SNOMEDCT:764998005
MONDO:0015595	posttransplant acute limbic encephalitis	biolink:Disease	mondo	Orphanet:163921|ICD10:A86	ordo_clinical_situation	pale	http://purl.obolibrary.org/obo/MONDO_0015595	Posttransplant acute limbic encephalitis is a rare, acquired, non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic hemapoietic stem cell transplantation, characterized by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated.	ORPHA:163921
MONDO:0015594	non-paraneoplastic limbic encephalitis	biolink:Disease	mondo	Orphanet:163918	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015594		ORPHA:163918
ENVO:01000685	water mass	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000685	A mass of water.	
ENVO:01000687	coast	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000687	A coast is the area where land meets the sea, ocean, or lake.	
GO:1902571	regulation of serine-type peptidase activity	biolink:OntologyClass	mondo			regulation of serine protease activity	http://purl.obolibrary.org/obo/GO_1902571	Any process that modulates the frequency, rate or extent of serine-type peptidase activity.	
MONDO:0015589	paraneoplastic limbic encephalitis	biolink:Disease	mondo	SCTID:445014002|Orphanet:163895|ICD10:G13.1|ICD9:323.81|NCIT:C4350	ordo_group_of_disorders	limbic encephalitis|limbic encephalitis	http://purl.obolibrary.org/obo/MONDO_0015589	A rare disorder characterized by degenerative changes in the limbic area of the brain. Causes include infections and autoimmune conditions; it may also manifest as a paraneoplastic syndrome, most often caused by small cell lung carcinoma. Signs and symptoms include behavioral changes, hallucinations and dementia.	SNOMEDCT:445014002|ORPHA:163895|NCIT:C4350
GO:1902572	negative regulation of serine-type peptidase activity	biolink:OntologyClass	mondo			downregulation of serine-type peptidase activity|negative regulation of serine protease activity|down-regulation of serine protease activity|down regulation of serine-type peptidase activity|inhibition of serine protease activity|inhibition of serine-type peptidase activity|down-regulation of serine-type peptidase activity|downregulation of serine protease activity|down regulation of serine protease activity	http://purl.obolibrary.org/obo/GO_1902572	Any process that stops, prevents or reduces the frequency, rate or extent of serine-type peptidase activity.	
MONDO:0015588	limbic encephalitis	biolink:Disease	mondo	Orphanet:163892|ICD9:323.9|GARD:0008742|MESH:D020363|SCTID:230192003	ordo_group_of_disorders|gard_rare		http://purl.obolibrary.org/obo/MONDO_0015588	Limbic encephalitis represents a group of autoimmune conditions characterized by inflammation of the limbic system and other parts of the brain.The cardinal sign of limbic encephalitis is a severe impairment of short-term memory; however,symptoms may also include confusion, psychiatric symptoms, and seizures.The symptomstypically develop over a few weeks or months, but they may evolve over a few days. Limbic encephalitis is often associated with an underlying neoplasm (paraneoplastic limbic encephalitis); however some cases never have a neoplasm identified (non-paraneoplastic limbic encephalitis). Delayed diagnosis is common, but improvements are being made to assist in early detection. Various tests including imaging studies (MRI, PET) laboratory tests (CSF analysis), and tests that measure the electrical activity of the brain (EEG) may be utilized to confirm a diagnosis. Treatment includes removal of the neoplasm (if identified) and immunotherapy.	UMLS:C0338430|ORPHA:163892|SNOMEDCT:230192003|MESH:D020363
MONDO:0015587	rolandic epilepsy-speech dyspraxia syndrome	biolink:Disease	mondo	UMLS:CN199957|Orphanet:163721	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015587	Rolandic epilepsy-speech dyspraxia syndrome is a rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed.	ORPHA:163721|UMLS:CN199957
MONDO:0015582	obsolete rare disorder related with pregnancy, childbirth and puerperium	biolink:Disease	mondo	Orphanet:163637|UMLS:CN226708	ordo_group_of_disorders|obsoletion_candidate	rare pregnancy disorder	http://purl.obolibrary.org/obo/MONDO_0015582	Any of the forms of pregnancy disorder that have a rare incidence.	ORPHA:163637|UMLS:CN226708
ENVO:01000680	polluted lake	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000680	A lake which has concentrations of environmental contaminants high enough to harm the ecosystems associated with it.	
MONDO:0015581	bile acid synthesis defect with cholestasis and malabsorption	biolink:Disease	mondo	Orphanet:163631|ICD10:K76.8	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015581		ORPHA:163631
MONDO:0015580	distal monosomy 7q36	biolink:Disease	mondo	ICD10:Q93.5|SCTID:763529005|Orphanet:1636	ordo_malformation_syndrome	distal monosomy type 7q36|monosomy 7qter|distal deletion 7q36|telomeric deletion 7q36	http://purl.obolibrary.org/obo/MONDO_0015580	Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported.	SNOMEDCT:763529005|ORPHA:1636
GO:0072348	sulfur compound transport	biolink:OntologyClass	mondo			sulfur-containing compound transport	http://purl.obolibrary.org/obo/GO_0072348	The directed movement of compounds that contain sulfur, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
MONDO:0015586	benign familial mesial temporal lobe epilepsy	biolink:Disease	mondo	Orphanet:163717|UMLS:CN226709	ordo_disease	benign FMTLE	http://purl.obolibrary.org/obo/MONDO_0015586	Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication.	UMLS:CN226709|ORPHA:163717
MONDO:0015585	cryptogenic late-onset epileptic spasms	biolink:Disease	mondo	Orphanet:163708	ordo_disease	late-onset infantile spasms	http://purl.obolibrary.org/obo/MONDO_0015585	Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that ocurr in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity.	ORPHA:163708
MONDO:0015584	febrile infection-related epilepsy syndrome	biolink:Disease	mondo	GARD:0011005|ICD10:G40.5|Orphanet:163703|UMLS:CN199955|SCTID:725413002	gard_rare|ordo_disease	AERRPS|status epilepticus owing to presumed encephalitis|fever-induced refractory epileptic encephalopathy in school-aged children|acute encephalitis with refractory repetitive partial seizures|devastating epileptic encephalopathy in school-aged children|severe refractory status epilepticus owing to presumed encephalitis|idiopathic catastrophic epileptic encephalopathy|FIRES|acute non-herpetic encephalitis with severe refractory status epilepticus|DESC syndrome	http://purl.obolibrary.org/obo/MONDO_0015584	Febrile infection-related epilepsy syndrome (FIRES) describes an explosive-onset, potentially fatal acute epileptic encephalopathy that develops in previously healthy children and adolescents following the onset of a non-specific febrile illness.	SNOMEDCT:725413002|ORPHA:163703|UMLS:CN199955
MONDO:0015583	2p21 microdeletion syndrome	biolink:Disease	mondo	Orphanet:163693|UMLS:C4304537|UMLS:CN199952|ICD10:Q93.5|SCTID:719652007	ordo_disease	monosomy 2p21|2p21 deletion syndrome|Del(2)(p21)	http://purl.obolibrary.org/obo/MONDO_0015583	The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.	UMLS:C4304537|ORPHA:163693|SNOMEDCT:719652007|UMLS:CN199952
ENVO:01000635	planetary landmass	biolink:OntologyClass	mondo			ground|land	http://purl.obolibrary.org/obo/ENVO_01000635	A landmass which is part of a planet.	
ENVO:01000637	outer space	biolink:OntologyClass	mondo			space	http://purl.obolibrary.org/obo/ENVO_01000637	Outer space is a hard vacuum containing a low density of particles, predominantly a plasma of hydrogen and helium as well as electromagnetic radiation, magnetic fields, neutrinos, dust and cosmic rays that exists between celestial bodies.	
ENVO:01000638	planetary crust	biolink:OntologyClass	mondo			crust	http://purl.obolibrary.org/obo/ENVO_01000638	A planetary crust is the outermost solid shell of a rocky planet or natural satellite, which is chemically distinct from the underlying mantle.	
GO:1902573	positive regulation of serine-type peptidase activity	biolink:OntologyClass	mondo			activation of serine protease activity|upregulation of serine protease activity|up-regulation of serine-type peptidase activity|activation of serine-type peptidase activity|positive regulation of serine protease activity|up regulation of serine protease activity|upregulation of serine-type peptidase activity|up-regulation of serine protease activity|up regulation of serine-type peptidase activity	http://purl.obolibrary.org/obo/GO_1902573	Any process that activates or increases the frequency, rate or extent of serine-type peptidase activity.	
ENVO:01000639	planetary structural layer	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000639	A planetary structural layer is laminar part of a terrestrial planet or other rocky body large enough to have differentiation by density. Planetary layers have differing physicochemical properties and composition.	
GO:0072376	protein activation cascade	biolink:OntologyClass	mondo			protein activation pathway|protein activitory cascade	http://purl.obolibrary.org/obo/GO_0072376	A response to a stimulus that consists of a sequential series of modifications to a set of proteins where the product of one reaction acts catalytically in the following reaction. The magnitude of the response is typically amplified at each successive step in the cascade. Modifications typically include proteolysis or covalent modification, and may also include binding events.	
GO:0072364	obsolete regulation of cellular ketone metabolic process by regulation of transcription from RNA polymerase II promoter	biolink:OntologyClass	mondo			regulation of cellular ketone metabolic process by regulation of transcription from an RNA polymerase II promoter|regulation of cellular ketone metabolism by regulation of transcription from an RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_0072364	OBSOLETE. Any process that modulates the frequency, rate or extent of a cellular ketone metabolic process by modulating the frequency, rate or extent of transcription from an RNA polymerase II promoter.	
GO:0072363	obsolete regulation of glycolytic process by positive regulation of transcription from RNA polymerase II promoter	biolink:OntologyClass	mondo			regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_0072363	OBSOLETE. Any process that modulates the frequency, rate or extent of glycolysis by activating or increasing the frequency, rate or extent of transcription from an RNA polymerase II promoter.	
GO:0072362	obsolete regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter	biolink:OntologyClass	mondo			regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_0072362	OBSOLETE. Any process that modulates the frequency, rate or extent of glycolysis by stopping, preventing, or reducing the frequency, rate or extent of transcription from an RNA polymerase II promoter.	
ENVO:01000624	hydrological condensation process	biolink:OntologyClass	mondo			condensation	http://purl.obolibrary.org/obo/ENVO_01000624	Hydrological condensation is a process in which atmospheric water vapour undergoes a phase transition from the gas phase to the liquid phase.	
GO:0072361	obsolete regulation of glycolytic process by regulation of transcription from RNA polymerase II promoter	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0072361	OBSOLETE. Any process that modulates the frequency, rate or extent of glycolysis by modulating the frequency, rate or extent of transcription from an RNA polymerase II promoter.	
NCBITaxon:337963	Neotominae	organism taxon	mondo	PMID:15371245|GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_337963		
GO:0072369	obsolete regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter	biolink:OntologyClass	mondo			regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_0072369	OBSOLETE. Any process that modulates the frequency, rate or extent of lipid transport by activating or increasing the frequency, rate or extent of transcription from an RNA polymerase II promoter.	
GO:0072368	obsolete regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter	biolink:OntologyClass	mondo			regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_0072368	OBSOLETE. Any process that modulates the frequency, rate or extent of lipid transport by stopping, preventing, or reducing the frequency, rate or extent of transcription from an RNA polymerase II promoter.	
GO:0072367	obsolete regulation of lipid transport by regulation of transcription from RNA polymerase II promoter	biolink:OntologyClass	mondo			regulation of lipid transport by regulation of transcription from an RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_0072367	OBSOLETE. Any process that modulates the frequency, rate or extent of lipid transport by modulating the frequency, rate or extent of transcription from an RNA polymerase II promoter.	
GO:0072366	obsolete regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter	biolink:OntologyClass	mondo			regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of cellular ketone metabolism by positive regulation of transcription from an RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_0072366	OBSOLETE. Any process that modulates the frequency, rate or extent of a cellular ketone metabolic process by activating or increasing the frequency, rate or extent of transcription from an RNA polymerase II promoter.	
GO:0072365	obsolete regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter	biolink:OntologyClass	mondo			regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|regulation of cellular ketone metabolism by negative regulation of transcription from an RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_0072365	OBSOLETE. Any process that modulates the frequency, rate or extent of a cellular ketone metabolic process by stopping, preventing, or reducing the frequency, rate or extent of transcription from an RNA polymerase II promoter.	
CHEBI:50268	GABA modulator	biolink:ChemicalSubstance	mondo			GABA modulators	http://purl.obolibrary.org/obo/CHEBI_50268	A substance that does not act as agonist or antagonist but does affect the gamma-aminobutyric acid receptor-ionophore complex. GABA-A receptors appear to have at least three allosteric sites at which modulators act: a site at which benzodiazepines act by increasing the opening frequency of gamma-aminobutyric acid-activated chloride channels; a site at which barbiturates act to prolong the duration of channel opening; and a site at which some steroids may act.	
ENVO:01000646	lithosphere	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000646	A lithosphere is the outermost shell of a terrestrial-type planet or natural satellite that is defined by its rigid mechanical properties.	
CHEBI:50267	protective agent	biolink:ChemicalSubstance	mondo			chemoprotective agents|chemoprotective agent|chemoprotectant|chemoprotectants|protective agents	http://purl.obolibrary.org/obo/CHEBI_50267	Synthetic or natural substance which is given to prevent a disease or disorder or are used in the process of treating a disease or injury due to a poisonous agent.	
ENVO:01000640	planetary mantle	biolink:OntologyClass	mondo			mantle	http://purl.obolibrary.org/obo/ENVO_01000640	A planetary mantle is a planetary layer which is an interior part of a terrestrial planet or other rocky body large enough to have differentiation by density.	
CHEBI:144644	a tetracycline zwittterion	biolink:ChemicalSubstance	mondo			a tetracycline	http://purl.obolibrary.org/obo/CHEBI_144644		
ENVO:01000648	magma	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000648	Magma is a mixture of molten or semi-molten rock, volatiles, and solids that is found beneath the uppermost solid layer of a planetary body. Besides molten rock, magma may also contain suspended crystals, dissolved gas and sometimes gas bubbles.	
CHEBI:50266	prodrug	biolink:ChemicalSubstance	mondo			Prodrugs	http://purl.obolibrary.org/obo/CHEBI_50266	A compound that, on administration, must undergo chemical conversion by metabolic processes before becoming the pharmacologically active drug for which it is a prodrug.	
MONDO:0003546	third cranial nerve disease	biolink:Disease	mondo	UMLS:C0271353|DOID:562|SCTID:60750009|MESH:D015840|NCIT:C27598		oculomotor nerve disease|disorder of oculomotor nerve|oculomotor nerve disorder|oculomotor nerve disease or disorder|disease of oculomotor nerve|disorder of oculomotor nerve|disease or disorder of oculomotor nerve	http://purl.obolibrary.org/obo/MONDO_0003546	A disease involving the oculomotor nerve.	NCIT:C27598|UMLS:C0271353|MESH:D015840|SNOMEDCT:60750009|DOID:562
MONDO:0003547	obsolete histiocytic and dendritic cell cancer	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003547		NCIT:C43251
MONDO:0003548	adenosquamous breast carcinoma	biolink:Disease	mondo	UMLS:C1510796|NCIT:C40361|DOID:5623|ONCOTREE:MASC		breast adenosquamous carcinoma|adenosquamous breast carcinoma|metaplastic adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0003548	An invasive breast carcinoma characterized by the presence of tubular and glandular neoplastic cell structures, admixed with islands of neoplastic cells showing squamous differentiation.	UMLS:C1510796|NCIT:C40361|DOID:5623
MONDO:0003549	adenosquamous bile duct carcinoma	biolink:Disease	mondo	UMLS:C0861854|DOID:5624		adenosquamous bile duct carcinoma|adenosquamous carcinoma of the bile duct|bile duct adenosquamous carcinoma|adenosquamous carcinoma of bile duct	http://purl.obolibrary.org/obo/MONDO_0003549	An adenosquamous carcinoma that arises from the bile ducts.	UMLS:C0861854|DOID:5624
MONDO:0003542	dental pulp calcification	biolink:Disease	mondo	DOID:5608|ICD10:K04.2|UMLS:C0011401|MESH:D003784|SCTID:57602001		pulp calcifications|pulp calcification|pulpal calcifications	http://purl.obolibrary.org/obo/MONDO_0003542		MESH:D003784|SNOMEDCT:57602001|DOID:5608|UMLS:C0011401
HGNC:9580	PSTPIP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9580		
MONDO:0003543	trigeminal nerve disease	biolink:Disease	mondo	MESH:D020433|DOID:561|NCIT:C26952|ICD9:350.8|SCTID:64309007		trigeminal nerve disease or disorder|disorder of trigeminal nerve|trigeminal nerve disorder|disorders of the fifth nerve|disease of trigeminal nerve|disease or disorder of trigeminal nerve|disorder of trigeminal nerve|trigeminal nerve disease|disorders of the vth cranial nerve|disorder of the fifth cranial nerve	http://purl.obolibrary.org/obo/MONDO_0003543	A disease involving the trigeminal nerve.	NCIT:C26952|MESH:D020433|DOID:561|SNOMEDCT:64309007
MONDO:0003544	spinal cord cancer	biolink:Disease	mondo	SCTID:363475005|UMLS:C0153646|NCIT:C3572|ICD9:192.2|DOID:5612|ICD10:C72.0|COHD:4177234		malignant spinal cord tumor|spine cancer|spinal cord neoplasm|malignant tumor of spinal cord|malignant tumor of the spinal cord|malignant spinal cord neoplasm|spinal cord cancer|spinal neoplasm|cancer of spinal cord|spinal cancer|malignant neoplasm of spinal cord|tumor of the spinal cord|intraspinal tumor|malignant neoplasm of the spinal cord	http://purl.obolibrary.org/obo/MONDO_0003544	A primary or metastatic malignant neoplasm affecting the spinal cord. Representative examples include lymphoma, melanoma, and sarcoma.	UMLS:C0153646|NCIT:C3572|DOID:5612|SNOMEDCT:363475005
MONDO:0003545	intradural extramedullary spinal canal neoplasm	biolink:Disease	mondo	NCIT:C5135|UMLS:C1334255|DOID:5615		intradural extramedullary spinal canal neoplasm|intradural extramedullary tumor of the spinal canal|intradural extramedullary spinal canal tumors|intradural extramedullary spinal tumors|intradural extramedullary spinal neoplasms|intradural extramedullary neoplasm of spinal canal|spinal canal intradural extramedullary neoplasm|intradural extramedullary neoplasm of the spinal canal|intradural extramedullary spinal canal tumor|intradural extramedullary tumor of spinal canal	http://purl.obolibrary.org/obo/MONDO_0003545	A neoplasm that occurs within the spinal canal in the space between the spinal cord and the dura mater. Representative examples include meningioma, neurofibroma, and sarcoma. Signs and symptoms include local and radicular pain, weakness and spinal cord compression.	NCIT:C5135|UMLS:C1334255|DOID:5615
HGNC:24592	STEAP3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24592		
UBERON:0036376	wall of left ureter	biolink:AnatomicalEntity	mondo			left ureteral wall	http://purl.obolibrary.org/obo/UBERON_0036376		
UBERON:0036375	wall of right ureter	biolink:AnatomicalEntity	mondo			right ureteral wall	http://purl.obolibrary.org/obo/UBERON_0036375		
MONDO:0003540	acute T cell leukemia	biolink:Disease	mondo	ICD10:C91.50|SCTID:277575008|CSP:2004-1803|DOID:5603|CSP:2004-1600|ICD10:C91.5		precursor T lymphoblastic leukemia|T-cell acute lymphoblastic leukemia	http://purl.obolibrary.org/obo/MONDO_0003540		SNOMEDCT:277575008|DOID:5603
MONDO:0015529	paroxysmal Hemicrania	biolink:Disease	mondo	GARD:0010794|MedDRA:10019461|SCTID:443094001|EFO:1001822|UMLS:C1399352|ICD10:G44.0|Orphanet:157835|ICD9:339.03|MESH:D051302	ordo_disease|gard_rare		http://purl.obolibrary.org/obo/MONDO_0015529	Paroxysmal hemicrania (PH) is a primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy.	MESH:D051302|ORPHA:157835|SNOMEDCT:443094001|MEDDRA:10019461|UMLS:C1399352
MONDO:0003541	adult acute lymphoblastic leukemia	biolink:Disease	mondo	UMLS:C0751606|DOID:5604|NCIT:C4967		adult acute lymphoblastic leukemia|acute lymphoblastic leukemia (ALL)|adult precursor lymphoblastic leukemia|adult acute lymphocytic leukemia|adult acute lymphoid leukemia|adult ALL|adult acute lymphogenous leukemia	http://purl.obolibrary.org/obo/MONDO_0003541	An acute lymphoblastic leukemia occurring during adulthood.	NCIT:C4967|DOID:5604|UMLS:C0751606
HGNC:24595	DYNC2LI1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24595		
MONDO:0015535	xanthoma disseminatum	biolink:Disease	mondo	MedDRA:10052575|GARD:0013186|SCTID:399970005|ICD10:D76.3|Orphanet:158003|UMLS:C0043322	ordo_disease|gard_rare	Montgomery syndrome	http://purl.obolibrary.org/obo/MONDO_0015535		UMLS:C0043322|MEDDRA:10052575|ORPHA:158003|SNOMEDCT:399970005
MONDO:0015534	juvenile xanthogranuloma	biolink:Disease	mondo	MESH:D014972|Orphanet:158000|ICD10:D76.3|UMLS:C0043324|NCIT:C3451|EFO:1000311|SCTID:400204000|DOID:4424	ordo_disease	JXG|Naevoxanthoendothelioma|juvenile xanthogranuloma|xanthoma neviforme|multiple eruptive juvenile xanthogranuloma	http://purl.obolibrary.org/obo/MONDO_0015534	A benign histiocytic tumor that occurs during childhood; it is distinct from Langerhans cell histiocytosis. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells in the dermis. The lesions usually develop during infancy. They consist of cutaneous papules and nodules (most often in the head and neck). It is sometimes associated with deep soft tissues nodules.	NCIT:C3451|UMLS:C0043324|MESH:D014972|DOID:4424|ORPHA:158000|SNOMEDCT:400204000
MONDO:0015533	benign cephalic histiocytosis	biolink:Disease	mondo	ICD10:D76.3|UMLS:C0347403|Orphanet:157997|ICD9:216.8|SCTID:255192005	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015533		ORPHA:157997|UMLS:C0347403|SNOMEDCT:255192005
MONDO:0015532	generalized eruptive histiocytosis	biolink:Disease	mondo	SCTID:110980006|ICD10:D76.3|UMLS:C0347404|Orphanet:157991	ordo_disease	generalized eruptive histiocytoma	http://purl.obolibrary.org/obo/MONDO_0015532		ORPHA:157991|UMLS:C0347404|SNOMEDCT:110980006
MONDO:0015539	progressive nodular histiocytosis	biolink:Disease	mondo	SCTID:765141005|ICD10:D76.3|Orphanet:158022	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015539	Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjuctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthomatized macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease.	ORPHA:158022|SNOMEDCT:765141005
MONDO:0015538	indeterminate dendritic cell tumor	biolink:Disease	mondo	ICD10:D76.3|SCTID:721313009|ONCOTREE:IDCT|Orphanet:158019|NCIT:C81767|UMLS:C2825741	ordo_disease	indeterminate cell histiocytosis|indeterminate Dendritic cell tumor|indeterminate dendritic cell tumor|IDCT	http://purl.obolibrary.org/obo/MONDO_0015538	A very rare dendritic cell tumor composed of spindle to ovoid cells with a phenotype that is similar to the Langerhans cells. Patients usually present with cutaneous papules, nodules, and plaques. Systemic symptoms are usually absent. The clinical course is variable.	UMLS:C2825741|SNOMEDCT:721313009|NCIT:C81767|ORPHA:158019
MONDO:0015537	necrobiotic xanthogranuloma	biolink:Disease	mondo	SCTID:404164003|ICD9:709.8|ICD10:D76.3|Orphanet:158011|MESH:D058252|GARD:0010951|UMLS:C1275339|EFO:1001376	ordo_disease|gard_rare	NXG	http://purl.obolibrary.org/obo/MONDO_0015537	A cutaneous necrobiotic disorder characterized by firm, yellow plaques or nodules, often in a periorbital distribution. It is often accompanied by an elevated erythrocyte sedimentation rate; leukopenia; and monoclonal gammopathy (IgG-kappa type) and systemic involvement.	UMLS:C1275339|MESH:D058252|SNOMEDCT:404164003|ORPHA:158011
MONDO:0015536	papular xanthoma	biolink:Disease	mondo	ICD10:D76.3|Orphanet:158008|UMLS:CN199692|SCTID:765221009	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015536	Papular xanthoma is a form of non-Langerhans cell histiocytosis characterized by cutaneous presentation of solitary or disseminated yellow to orange-brown papular or papulonodular, noncoalescent, asymptomatic skin lesions located predominantly on the head, neck, trunk and extremities (rarely on oral mucosa), in the presence of normolipidemia. Microscopically, the lesions consist of monomorphous infiltrate of xanthomatized macrophages and numerous Touton giant cells, with scant or absent inflammatory infiltrate. It is usually not associated with systemic disease.	UMLS:CN199692|SNOMEDCT:765221009|ORPHA:158008
HGNC:9585	PTCH1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9585		
MONDO:0003539	T-cell adult acute lymphocytic leukemia	biolink:Disease	mondo	UMLS:C0279592|EFO:1001936|DOID:5602|NCIT:C9142		T Acute Lymphoblastic Leukemia|adult acute lymphoblastic leukemia of T cell|adult precursor T-lymphoblastic leukemia|T cell adult ALL|T-cell adult ALL|T cell adult acute lymphoblastic leukemia|T cell adult acute lymphocytic leukemia|adult T acute lymphoblastic leukemia|adult T-cell acute lymphoblastic leukemia|acute Adult T-cell Leukemia-lymphoma|adult precursor T lymphoblastic leukemia	http://purl.obolibrary.org/obo/MONDO_0003539	An acute T-lymphoblastic leukemia occurring in adults.	UMLS:C0279592|NCIT:C9142|DOID:5602
MONDO:0015531	non-Langerhans cell histiocytosis	biolink:Disease	mondo	SCTID:127069007|ICD10:D76.3|UMLS:C0019624|GARD:0008231|Orphanet:157987|ICD9:288.4|DOID:4330|MESH:D015616	ordo_group_of_disorders	histiocytosis, non-Langerhans-cell|non-Langerhans-cell histiocytosis	http://purl.obolibrary.org/obo/MONDO_0015531	Group of disorders which feature accumulations of active HISTIOCYTES and LYMPHOCYTES, but where the histiocytes are not LANGERHANS CELLS. The group includes HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; SINUS HISTIOCYTOSIS; xanthogranuloma; reticulohistiocytoma; juvenile XANTHOGRANULOMA; xanthoma disseminatum; as well as the lipid storage diseases (SEA-BLUE HISTIOCYTE SYNDROME; and NIEMANN-PICK DISEASES).	ORPHA:157987|MESH:D015616|SNOMEDCT:127069007|DOID:4330|UMLS:C0019624
HGNC:9588	PTEN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9588		
MONDO:0015530	trigeminal autonomic cephalalgia	biolink:Disease	mondo	NCIT:C117074|ICD9:339.09|SCTID:449814007|ICD10:G44.8|MESH:D051303|Orphanet:157843|UMLS:C1565172	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015530	A headache disorder characterized by episodes of unilateral, short lasting pain and associated ipsilateral cranial autonomic symptoms.	SNOMEDCT:449814007|NCIT:C117074|UMLS:C1565172|MESH:D051303|ORPHA:157843
HGNC:9586	PTCH2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9586		
HGNC:9587	PTDSS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9587		
MONDO:0003557	optic nerve sheath meningioma	biolink:Disease	mondo	UMLS:C0346328|SCTID:254978007|ICD9:237.9|DOID:5632|NCIT:C4538		optic nerve sheath meningioma|meningioma of optic nerve sheath|meningioma of the optic nerve sheath	http://purl.obolibrary.org/obo/MONDO_0003557	A meningioma that affects the sheath of the optic nerve.	NCIT:C4538|UMLS:C0346328|DOID:5632|SNOMEDCT:254978007
MONDO:0003558	adenosquamous prostate carcinoma	biolink:Disease	mondo	NCIT:C5538|UMLS:C1335503|DOID:5634		adenosquamous carcinoma of the prostate|prostate gland adenosquamous carcinoma|prostate adenosquamous carcinoma|adenosquamous carcinoma of prostate	http://purl.obolibrary.org/obo/MONDO_0003558	An infrequent invasive carcinoma of the prostate gland characterized by the presence of both glandular and squamous neoplastic components. It is more often located in the transitional zone of the prostate gland and it tends to rapidly metastasize to the bones.	NCIT:C5538|UMLS:C1335503|DOID:5634
CHEBI:76898	EC 1.14.14.1 (unspecific monooxygenase) inhibitor	biolink:ChemicalSubstance	mondo			microsomal P-450 inhibitor|substrate,reduced-flavoprotein:oxygen oxidoreductase (RH-hydroxylating or -epoxidising) inhibitor|aryl hydrocarbon hydroxylase inhibitor|microsomal monooxygenase inhibitor|flavoprotein-linked monooxygenase inhibitors|microsomal monooxygenase inhibitors|flavoprotein-linked monooxygenase inhibitor|aryl hydrocarbon hydroxylase inhibitors|substrate,reduced-flavoprotein:oxygen oxidoreductase (RH-hydroxylating or -epoxidising) inhibitors|microsomal P-450 inhibitors|xenobiotic monooxygenase inhibitor|unspecific monooxygenase (EC 1.14.14.1) inhibitor|unspecific monooxygenase inhibitors|EC 1.14.14.1 inhibitor|aryl-4-monooxygenase inhibitors|flavoprotein monooxygenase inhibitors|flavoprotein monooxygenase inhibitor|aryl-4-monooxygenase inhibitor|EC 1.14.14.1 inhibitors|EC 1.14.14.1 (unspecific monooxygenase) inhibitors|xenobiotic monooxygenase inhibitors|unspecific monooxygenase inhibitor|unspecific monooxygenase (EC 1.14.14.1) inhibitors	http://purl.obolibrary.org/obo/CHEBI_76898	An EC 1.14.14.* (oxidoreductase acting on paired donors, incorporating of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor) inhibitor that interferes with the action of an unspecified monooxygenase (EC 1.14.14.1).	
MONDO:0003559	obsolete cervical adenosquamous carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003559		
MONDO:0003553	ampulla of vater adenosquamous carcinoma	biolink:Disease	mondo	DOID:5628|NCIT:C27418|UMLS:C1332245		hepatopancreatic ampulla adenosquamous carcinoma|ampulla of Vater adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0003553	A carcinoma with glandular and squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss.	UMLS:C1332245|DOID:5628|NCIT:C27418
NCBITaxon:431037	unclassified Roseolovirus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_431037		
GO:0050954	sensory perception of mechanical stimulus	biolink:OntologyClass	mondo			perception of mechanical stimulus|mechanosensory perception|chemi-mechanical coupling	http://purl.obolibrary.org/obo/GO_0050954	The series of events required for an organism to receive a sensory mechanical stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process.	
HGNC:9591	PTGDR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9591		
MONDO:0003554	adenosquamous colon carcinoma	biolink:Disease	mondo	NCIT:C5491|DOID:5629|UMLS:C1333082		colon adenosquamous cancer|colon adenosquamous carcinoma|adenosquamous carcinoma of colon|adenosquamous colon carcinoma|adenosquamous carcinoma of the colon|colonic adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0003554	An unusual colon carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas.	UMLS:C1333082|DOID:5629|NCIT:C5491
MONDO:0003555	Bartholin gland adenosquamous carcinoma	biolink:Disease	mondo	NCIT:C40296|UMLS:C1511050|DOID:5630		Bartholin's gland adenosquamous carcinoma|Bartholin gland adenosquamous carcinoma|major vestibular gland adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0003555	A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant glandular epithelial cells and malignant squamous epithelial cells.	NCIT:C40296|DOID:5630|UMLS:C1511050
MONDO:0003556	endometrial adenosquamous carcinoma	biolink:Disease	mondo	NCIT:C114656|EFO:1001952|GARD:0013107|UMLS:C3896969|DOID:5631	gard_rare	adenosquamous carcinoma of the endometrium|endometrium adenosquamous carcinoma|adenosquamous carcinoma of endometrium|endometrial adenosquamous cancer|endometrial adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0003556	A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components.	UMLS:C3896969|DOID:5631|NCIT:C114656
GO:0050953	sensory perception of light stimulus	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0050953	The series of events required for an organism to receive a sensory light stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process.	
MONDO:0003550	esophageal adenosquamous carcinoma	biolink:Disease	mondo	DOID:5625|NCIT:C27421|UMLS:C2063886		esophageal adenosquamous cancer|esophagus adenosquamous carcinoma|esophageal adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0003550	An esophageal carcinoma characterized by the presence of distinguishable squamous and glandular carcinomatous components.	UMLS:C2063886|DOID:5625|NCIT:C27421
MONDO:0003551	thymic adenosquamous carcinoma	biolink:Disease	mondo	DOID:5626|UMLS:C1332171|NCIT:C6458		thymus adenosquamous carcinoma|thymic adenosquamous carcinoma|adenosquamous carcinoma of the Thymus|adenosquamous carcinoma of Thymus|Thymus adenosquamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0003551	A rare carcinoma that arises from the thymus and is characterized by the presence of glandular and squamous carcinomatous components.	UMLS:C1332171|DOID:5626|NCIT:C6458
MONDO:0015519	congenital or early infantile CACH syndrome	biolink:Disease	mondo	ICD10:E75.2|Orphanet:157713	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0015519		ORPHA:157713
MONDO:0015518	infantile bilateral striatal necrosis	biolink:Disease	mondo	ICD10:G23.2|UMLS:C0795996|Orphanet:1576|SCTID:718174008|GARD:0005040	gard_rare|ordo_disease	striatal degeneration familial|infantile striatonigral necrosis|SNDI|IBSN|infantile striatonigral degeneration|striatonigral degeneration infantile|infantile bilateral striatal necrosis	http://purl.obolibrary.org/obo/MONDO_0015518	Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic.	UMLS:C0795996|SNOMEDCT:718174008|ORPHA:1576
GO:0050957	equilibrioception	biolink:OntologyClass	mondo			sensory perception of orientation with respect to gravity	http://purl.obolibrary.org/obo/GO_0050957	The series of events required for an organism to receive an orientational stimulus, convert it to a molecular signal, and recognize and characterize the signal. Equilibrioception refers to a combination of processes by which an organism can perceive its orientation with respect to gravity. In animals, stimuli come from labyrinth system of the inner ears, monitoring the direction of motion; visual stimuli, with information on orientation and motion; pressure receptors, which tell the organism which body surfaces are in contact with the ground; and proprioceptive cues, which report which parts of the body are in motion.	
MONDO:0003552	obsolete adenosquamous gallbladder carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003552		
MONDO:0015524	hyperplastic polyposis syndrome	biolink:Disease	mondo	NCIT:C165469|UMLS:CN199665|SCTID:763536006|Orphanet:157798|ICD10:D12.6	ordo_disease	serrated polyposis	http://purl.obolibrary.org/obo/MONDO_0015524	Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer.	UMLS:CN199665|ORPHA:157798|NCIT:C165469|SNOMEDCT:763536006
MONDO:0015523	epithelioid hemangioendothelioma	biolink:Disease	mondo	Orphanet:157791|SCTID:403981003|DOID:0080190|ICD10:D18.0|UMLS:C0206732|ICDO:9133/3|MESH:D018323|NCIT:C3800|ICDO:9133/1|ONCOTREE:EHAE|ICDO:9130/3	ordo_disease	epithelioid angioendothelioma|epithelioid hemangioendothelioma|epithelioid angiosarcoma|malignant epithelioid hemangioendothelioma	http://purl.obolibrary.org/obo/MONDO_0015523	A low-grade malignant blood vessel neoplasm. It is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma.	MESH:D018323|ORPHA:157791|NCIT:C3800|DOID:0080190|SNOMEDCT:403981003|UMLS:C0206732
MONDO:0015522	situs ambiguus	biolink:Disease	mondo	MedDRA:10059119|Orphanet:157769|GARD:0010875|SCTID:14821001|ICD10:Q89.3	ordo_morphological_anomaly	incomplete situs inversus|situs ambiguous|partial situs inversus	http://purl.obolibrary.org/obo/MONDO_0015522		ORPHA:157769|UMLS:C1167664|UMLS:C0266642|MEDDRA:10059119|SNOMEDCT:14821001
MONDO:0015521	juvenile or adult CACH syndrome	biolink:Disease	mondo	Orphanet:157719|UMLS:CN199660|ICD10:E75.2	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0015521		ORPHA:157719|UMLS:CN199660
MONDO:0015528	congenital epulis	biolink:Disease	mondo	MESH:D005887|NCIT:C4675|Orphanet:157826|UMLS:C0376319|DOID:7280|SCTID:360525006	ordo_disease	congenital granular cell tumor|congenital gingival cell tumor|gingival granular cell tumor|Neumann tumor|congenital Epulides|congenital epulis	http://purl.obolibrary.org/obo/MONDO_0015528	A congenital gingival tumor that occurs along the alveolar ridge of the maxilla. It usually affects female infants. The histogenesis is unknown. Morphologically, it is characterized by the presence of large cells with eosinophilic granular cytoplasm. Complete surgical resection is curative.	ORPHA:157826|MESH:D005887|UMLS:C0376319|NCIT:C4675|DOID:7280|SNOMEDCT:360525006
MONDO:0015527		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015527		
GO:2001169	regulation of ATP biosynthetic process	biolink:OntologyClass	mondo			regulation of ATP regeneration|regulation of ATP formation|regulation of ATP biosynthesis|regulation of ATP anabolism|regulation of ATP synthesis	http://purl.obolibrary.org/obo/GO_2001169	Any process that modulates the frequency, rate or extent of ATP biosynthetic process.	
MONDO:0015526	cold-induced sweating syndrome	biolink:Disease	mondo	DOID:0060294|ICD10:G90.8|UMLS:CN043579|OMIMPS:272430|SCTID:702363009|Orphanet:157820	ordo_disease	Crisponi syndrome|CISS|Sohar-Crisponi syndrome	http://purl.obolibrary.org/obo/MONDO_0015526	Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature.	DOID:0060294|SNOMEDCT:702363009|ORPHA:157820|UMLS:CN043579
MONDO:0015525	congenital pseudoarthrosis of the limbs	biolink:Disease	mondo	MESH:C535762|GARD:0009722|Orphanet:157808	gard_rare|ordo_morphological_anomaly	congenital pseudarthrosis of the limbs|congenital pseudoarthrosis	http://purl.obolibrary.org/obo/MONDO_0015525		MESH:C535762|ORPHA:157808
HGNC:9594	PTGER2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9594		
MONDO:0015520	late infantile CACH syndrome	biolink:Disease	mondo	UMLS:CN199659|Orphanet:157716|ICD10:E75.2	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0015520		ORPHA:157716|UMLS:CN199659
CHEBI:76895	EC 3.6.3.* (acid anhydride hydrolase catalysing transmembrane movement of substances) inhibitor	biolink:ChemicalSubstance	mondo			EC 3.6.3.* inhibitors|EC 3.6.3.* (acid anhydride hydrolase catalysing transmembrane movement of substances) inhibitors|acid anhydride hydrolase catalysing transmembrane movement of substances (EC 3.6.3.*) inhibitors|acid anhydride hydrolase catalysing transmembrane movement of substances (EC 3.6.3.*) inhibitor|EC 3.6.3.* inhibitor	http://purl.obolibrary.org/obo/CHEBI_76895	An EC 3.6.* (hydrolases acting on acid anhydrides) inhibitor that interferes with the action of any such enzyme that catalyses transmembrane movement of substances (EC 3.6.3.*).	
MONDO:0003524	gastric gastrin-producing neuroendocrine tumor	biolink:Disease	mondo	NCIT:C27444|UMLS:C1333767|DOID:5579		stomach gastrin-producing neuroendocrine tumor|gastric gastrinoma|gastric G-cell gastrin producing tumor|gastrin-producing neuroendocrine tumor of stomach|gastric gastrin-producing NET|gastrin-producing neuroendocrine tumor of the stomach|gastric gastrin producing tumor|gastrin producing neuroendocrine tumor of the stomach|gastrin producing tumor of the stomach|gastric gastrin-producing neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0003524	A well differentiated neuroendocrine tumor that arises from the stomach. It produces gastrin and it may be associated with Zollinger-Ellison syndrome.	NCIT:C27444|UMLS:C1333767|DOID:5579
MONDO:0003525	pancreatic gastrin-producing neuroendocrine tumor	biolink:Disease	mondo	UMLS:C1368066|NCIT:C9069|MESH:D015408|DOID:5580		islet cell tumor, ulcerogenic|pancreatic gastrin-producing neuroendocrine tumor|pancreatic gastrin producing tumor|pancreatic gastrinoma|pancreatic gastrin producing NET|gastrin-producing neuroendocrine tumor of pancreas|pancreas gastrin-producing neuroendocrine tumor|pancreatic G-cell tumor	http://purl.obolibrary.org/obo/MONDO_0003525	A usually malignant gastrin-producing neuroendocrine tumor arising from the pancreas. It may or may not be associated with inappropriate secretion of gastrin and an associated clinical syndrome.	MESH:D015408|NCIT:C9069|DOID:5580|UMLS:C1368066
GO:0050962	detection of light stimulus involved in sensory perception	biolink:OntologyClass	mondo			sensory transduction of light stimulus|sensory perception, sensory detection of light stimulus|sensory detection of light stimulus during sensory perception|sensory perception, sensory transduction of light stimulus|sensory detection of light stimulus|sensory transduction of light stimulus during sensory perception	http://purl.obolibrary.org/obo/GO_0050962	The series of events in which a light stimulus is received by a cell and converted into a molecular signal as part of the sensory perception of light.	
HGNC:24579	CIB2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24579		
HGNC:24576	CDT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24576		
MONDO:0003526	obsolete lung giant cell carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003526		
MONDO:0003527	obsolete Ferguson-Smith tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003527	A rare genetic neoplastic disorder with an autosomal dominant pattern of inheritance characterized by multiple, recurrent skin cancers that spontaneously resolve. It has been described almost exclusively in families of Scottish origin. It is caused by a mutation in the tumor-suppressing gene, TGFBR1, on chromosome 9. Clinical presentation is usually rapidly growing squamous cell carcinomas or keratoacanthomas that primarily localize to sun-exposed areas. Appearance of the neoplasms occurs over several weeks before receding over the course of several months if untreated. The regression of the lesions leaves pitting cicatrices but no other known sequelae.	
MONDO:0003520	obsolete malignant acrospiroma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003520		
MONDO:0003521	obsolete VIPoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003521		
MONDO:0003522	male orgasm disorder	biolink:Disease	mondo	DOID:5576|COHD:444268|SCTID:81903006|ICD10:F52.32|NCIT:C34959		inhibited male orgasm|male orgasmic disorder	http://purl.obolibrary.org/obo/MONDO_0003522	Persistent delay or absence in orgasm not accounted for by a medical reason.	SNOMEDCT:81903006|DOID:5576|NCIT:C34959
MONDO:0003523	gastrin-producing neuroendocrine tumor	biolink:Disease	mondo	DOID:5577|UMLS:CN206461|NCIT:C3050|ICDO:8153/1		G cell tumor|gastrin secreting tumor|gastrin-producing NET|gastrinoma|G-cell tumor|gastrin cell tumour|malignant gastrinoma|gastrin-producing neuroendocrine tumor|G-cell gastrin producing tumor	http://purl.obolibrary.org/obo/MONDO_0003523	A gastrin-producing neuroendocrine tumor. It is usually located in the pancreas but it is also found at other anatomic sites, including the stomach and small intestine.	UMLS:CN206461|NCIT:C3050|DOID:5577
MONDO:0015509	genetic biliary tract disease	biolink:Disease	mondo	Orphanet:156607|UMLS:CN199642	ordo_group_of_disorders	genetic biliary tract disease	http://purl.obolibrary.org/obo/MONDO_0015509	Genetic biliary tract disease.	UMLS:CN199642|ORPHA:156607
MONDO:0015508	genetic parenchymatous liver disease	biolink:Disease	mondo	UMLS:CN199641|Orphanet:156604	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015508		UMLS:CN199641|ORPHA:156604
MONDO:0015507	obsolete rare genetic hepatic disease	biolink:Disease	mondo	UMLS:CN199640|Orphanet:156601	ordo_group_of_disorders|obsoletion_candidate	rare genetic liver disease	http://purl.obolibrary.org/obo/MONDO_0015507	Rare genetic liver disease.	UMLS:CN199640|ORPHA:156601
MONDO:0040502	glucocorticoid deficiency 5	biolink:Disease	mondo	OMIM:617825		GCCD5|glucocorticoid deficiency 5; GCCD5	http://purl.obolibrary.org/obo/MONDO_0040502		http://identifiers.org/omim/617825
CL:0002485	retinal melanocyte	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002485	A melanocyte of the retina. This cell type is distinct from pigmented retinal epithelium.	
MONDO:0015513	obsolete rare genetic endocrine disease	biolink:Disease	mondo	Orphanet:156638|UMLS:CN199645	ordo_group_of_disorders|obsoletion_candidate	rare genetic endocrine system disease	http://purl.obolibrary.org/obo/MONDO_0015513	A form of endocrine system disease that is both rare and inborn.	UMLS:CN199645|ORPHA:156638
MONDO:0040501	ehlers-danlos syndrome, arthrochalasia type, 2	biolink:Disease	mondo	OMIM:617821		EDS VIIB|EDSARTH2|EDS 7B|Ehlers-Danlos syndrome, arthrochalasia type, 2; EDSARTH2|Ehlers-Danlos syndrome, type VIIb, Autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0040501		http://identifiers.org/omim/617821
MONDO:0015512	genetic hypertension	biolink:Disease	mondo	UMLS:C0598428|Orphanet:156629	ordo_group_of_disorders	genetic hypertensive disorder|genetic hypertension	http://purl.obolibrary.org/obo/MONDO_0015512	An instance of hypertension that is caused by a modification of the individual's genome.	ORPHA:156629|UMLS:C0598428
CL:0002484	epithelial melanocyte	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002484	A melanocyte that produces pigment in the epithelium.	
MONDO:0040500	glycosylphosphatidylinositol biosynthesis defect 16	biolink:Disease	mondo	OMIM:617816		glycosylphosphatidylinositol biosynthesis defect 16; GPIBD16|intellectual disability, autosomal recessive 62|mental retardation, autosomal recessive 62|GPIBD16	http://purl.obolibrary.org/obo/MONDO_0040500		http://identifiers.org/omim/617816
MONDO:0015511	obsolete rare genetic urogenital disease	biolink:Disease	mondo	Orphanet:156619|UMLS:CN199644	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0015511		UMLS:CN199644|ORPHA:156619
MONDO:0015510	obsolete rare genetic respiratory disease	biolink:Disease	mondo	UMLS:CN199643|Orphanet:156610	obsoletion_candidate|ordo_group_of_disorders	rare genetic respiratory system disease	http://purl.obolibrary.org/obo/MONDO_0015510	Rare genetic respiratory system disease.	UMLS:CN199643|ORPHA:156610
HGNC:12597	USH1C	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12597		
MONDO:0015517	common variable immunodeficiency	biolink:Disease	mondo	UMLS:C0009447|COHD:435228|MedDRA:10021449|SCTID:23238000|ICD10:D83.8|GARD:0006140|Orphanet:1572|MESH:D017074|NCIT:C26725|ICD9:279.06|DOID:12177|OMIMPS:607594|ICD10:D83|ICD10:D83.2|ICD10:D83.9|ICD10:D83.1|ICD10:D83.0	ordo_disease	common variable agammaglobulinemia|common variable hypogamma-globulinemia|Immunoglobulin deficiency, late-onset|primary hypogammaglobulinemia|common variable immune deficiency|CVID|acquired hypogammaglobulinemia|sporadic hypogammaglobulinemia|idiopathic immunoglobulin deficiency|primary antibody deficiency|secondary hypogammaglobulinemia|acquired agammaglobulinemia|hypogamma-globulinemia, acquired	http://purl.obolibrary.org/obo/MONDO_0015517	Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.	MEDDRA:10021449|DOID:12177|MESH:D017074|SNOMEDCT:23238000|NCIT:C26725|UMLS:C0009447|ORPHA:1572
CL:0002489	double negative thymocyte	biolink:Cell	mondo			CD4-CD8- T cell|double negative T cell	http://purl.obolibrary.org/obo/CL_0002489	A thymocyte that lacks expression of CD4 and CD8.	
MONDO:0015516	symbrachydactyly of hands and feet	biolink:Disease	mondo	ICD10:Q73.8|Orphanet:1570	ordo_malformation_syndrome	De Smet-Fabry-Fryns syndrome	http://purl.obolibrary.org/obo/MONDO_0015516	Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails.	ORPHA:1570
MONDO:0015515	carnitine palmitoyltransferase II deficiency	biolink:Disease	mondo	ICD9:277.85|SCTID:238002005|NCIT:C114766|ICD10:E71.3|GARD:0001121|MESH:C535589|HGNC:2330|UMLS:C0342790|Orphanet:157|DOID:0060235	ordo_disease|gard_rare	Carnitine palmitoyltransferase deficiency type 2|Carnitine palmitoyltransferase 2 deficiency|CPT II deficiency|Carnitine palmitoyltransferase II (CPT II) deficiency|CPT2|CPT-II|CPTII|infantile carnitine palmitoyltransferase II deficiency|late-onset carnitine palmitoyltransferase II deficiency|lethal neonatal carnitine palmitoyltransferase II deficiency	http://purl.obolibrary.org/obo/MONDO_0015515	Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form.	UMLS:C0342790|MESH:C535589|DOID:0060235|NCIT:C114766|SNOMEDCT:238002005|ORPHA:157
MONDO:0040503	blepharocheilodontic syndrome 2	biolink:Disease	mondo	DOID:0080346|UMLS:C4540127|OMIM:617681		BCDS2|blepharo-cheilo-odontic syndrome caused by mutation in CTNND1|BLEPHAROCHEILODONTIC syndrome 2; BCDS2|CTNND1 blepharo-cheilo-odontic syndrome	http://purl.obolibrary.org/obo/MONDO_0040503	Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CTNND1 gene.	DOID:0080346|http://identifiers.org/omim/617681|UMLS:C4540127
MONDO:0015514	genetic endocrine growth disease	biolink:Disease	mondo	MESH:D006130|Orphanet:156643|UMLS:CN237424	ordo_group_of_disorders	growth disorder	http://purl.obolibrary.org/obo/MONDO_0015514		MESH:D006130|ORPHA:156643|UMLS:CN237424
HGNC:12592	UROS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12592		
HGNC:12591	UROD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12591		
MONDO:0003517	mature teratoma	biolink:Disease	mondo	NCIT:C9015|DOID:5566|ONCOTREE:VMT|UMLS:C1368910|SCTID:254875009|ICDO:9080/0		mature teratoma	http://purl.obolibrary.org/obo/MONDO_0003517	A teratoma which may be cystic; it is composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues.	DOID:5566|SNOMEDCT:254875009|UMLS:C1368910|NCIT:C9015
CL:0002481	peritubular myoid cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002481	The flattened smooth myoepithelial cells of mesodermal origin that lie just outside the basal lamina of the seminiferous tubule.	
HP:0020064	Abnormal eosinophil count	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0020064	Any deviation from the normal number of eosinophils per volume in the blood circulation.	
GO:2001170	negative regulation of ATP biosynthetic process	biolink:OntologyClass	mondo			negative regulation of ATP synthesis|negative regulation of ATP formation|negative regulation of ATP biosynthesis|negative regulation of ATP anabolism|negative regulation of ATP regeneration	http://purl.obolibrary.org/obo/GO_2001170	Any process that stops, prevents or reduces the frequency, rate or extent of ATP biosynthetic process.	
GO:2001171	positive regulation of ATP biosynthetic process	biolink:OntologyClass	mondo			positive regulation of ATP synthesis|positive regulation of ATP formation|positive regulation of ATP regeneration|positive regulation of ATP anabolism|positive regulation of ATP biosynthesis	http://purl.obolibrary.org/obo/GO_2001171	Any process that activates or increases the frequency, rate or extent of ATP biosynthetic process.	
MONDO:0003518	mediastinum teratoma	biolink:Disease	mondo	DOID:5568|NCIT:C6438|UMLS:C1334682		mediastinum teratoma|teratoma of mediastinum	http://purl.obolibrary.org/obo/MONDO_0003518	A teratoma that involves the mediastinum.	DOID:5568|NCIT:C6438|UMLS:C1334682
MONDO:0003519	malignant syringoma	biolink:Disease	mondo	UMLS:C0346027|DOID:5569|SCTID:254712007|NCIT:C7581|ONCOTREE:MAC|GARD:0010438		MAC|syringomatous carcinoma|microcystic adnexal carcinoma|microcystic adnexal carcinoma of skin|syringoma, malignant	http://purl.obolibrary.org/obo/MONDO_0003519	A malignant form of syringoma.	DOID:5569|NCIT:C7581|SNOMEDCT:254712007|UMLS:C0346027
HGNC:12593	USF1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12593		
MONDO:0003535	fallopian tube papillary adenocarcinoma	biolink:Disease	mondo	DOID:5597|NCIT:C6267|UMLS:C1333595		papillary adenocarcinoma of fallopian tube|fallopian tube papillary adenocarcinoma|papillary adenocarcinoma of the fallopian tube	http://purl.obolibrary.org/obo/MONDO_0003535	An adenocarcinoma that arises from the fallopian tube and is characterized by a papillary architectural pattern.	NCIT:C6267|UMLS:C1333595|DOID:5597
MONDO:0003536	obsolete fallopian tube serous adenocarcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003536		
MONDO:0003537	precursor T-lymphoblastic lymphoma/leukemia	biolink:Disease	mondo	DOID:5599|ICDO:9837/3|NCIT:C8694|UMLS:C1301359		precursor T-lymphoblastic lymphoma/leukemia|precursor T lymphoblastic lymphoma/leukemia|T lymphoblastic leukemia/lymphoma|precursor T lymphoblastic leukemia/lymphoma	http://purl.obolibrary.org/obo/MONDO_0003537	A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001)	NCIT:C8694|DOID:5599|UMLS:C1301359
CHEBI:27902	tetracycline	biolink:ChemicalSubstance	mondo			(4S,4aS,5aS,12aS)-4-(Dimethylamino)-1,4,4a,5,5a,6,11,12a-octahydro-3,6,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-2-naphthacenecarboxamide|Tetrazyklin|Tetracyclin|Tsiklomitsin|TETRACYCLINE|tetracycline|Tetracycline|Anhydrotetracycline|tetracycline|tetracyclinum|Liquamycin|Abramycin|(4S,4aS,5aS,6S,12aS)-4-(dimethylamino)-3,6,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide|Deschlorobiomycin|Achromycin	http://purl.obolibrary.org/obo/CHEBI_27902	A broad-spectrum polyketide antibiotic produced by the Streptomyces genus of actinobacteria.	
HGNC:24587	FAM126A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24587		
MONDO:0003538	precursor lymphoblastic lymphoma/leukemia	biolink:Disease	mondo	DOID:5600|EFO:0009119|UMLS:C1335469|NCIT:C7055		precursor lymphoblastic leukemia/lymphoma|precursor lymphoid neoplasm|precursor lymphoblastic lymphoma/leukemia	http://purl.obolibrary.org/obo/MONDO_0003538	A neoplasm of immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage. Neoplasms involving the bone marrow and the peripheral blood are called precursor lymphoblastic leukemias or acute lymphoblastic leukemias. Neoplasms involving primarily lymph nodes or extranodal sites are called lymphoblastic lymphomas. -- 2003	UMLS:C1335469|DOID:5600|NCIT:C7055
MONDO:0003531	papillary eccrine carcinoma	biolink:Disease	mondo	SCTID:254709009|DOID:5591|UMLS:C1367774|NCIT:C27254		tubular apocrine adenoma|papillary apocrine fibroadenoma|papillary eccrine carcinoma|papillary eccrine adenoma|eccrine papillary adenocarcinoma|digital papillary adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003531		UMLS:C1367774|DOID:5591|SNOMEDCT:254709009|NCIT:C27254
MONDO:0003532	breast papillary carcinoma	biolink:Disease	mondo	NCIT:C9134|DOID:5592|UMLS:C3812899|UMLS:C1336027		papillary carcinoma of breast|papillary carcinoma of the breast|solid papillary carcinoma of the breast|Papillary breast cancer|breast solid papillary carcinoma|breast papillary carcinoma|papillary breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0003532	A breast carcinoma characterized by the formation of irregular, finger-like projections of fibrous stroma covered with neoplastic epithelial cells.	UMLS:C1336027|UMLS:C3812899|NCIT:C9134|DOID:5592
MONDO:0003533	obsolete gastric papillary adenocarcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003533		
GO:0050975	sensory perception of touch	biolink:OntologyClass	mondo			taction|tactile sense|perception of touch|tactition	http://purl.obolibrary.org/obo/GO_0050975	The series of events required for an organism to receive a touch stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. The perception of touch in animals is mediated by mechanoreceptors in the skin and mucous membranes and is the sense by which contact with objects gives evidence as to certain of their qualities. Different types of touch can be perceived (for example, light, coarse, pressure and tickling) and the stimulus may be external or internal (e.g. the feeling of a full stomach).	
MONDO:0003534	papillary thymic adenocarcinoma	biolink:Disease	mondo	DOID:5595|NCIT:C27937|UMLS:C1335327		thymus papillary adenocarcinoma|papillary carcinoma of the Thymus|Thymus papillary carcinoma|thymic papillary carcinoma|papillary carcinoma of Thymus|thymic papillary adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003534	A rare primary thymic adenocarcinoma, characterized by a papillary growth pattern. There are only a few published cases, and no good data regarding prognosis.	NCIT:C27937|UMLS:C1335327|DOID:5595
UBERON:0012375	subserosa	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0012375	A layer of tissue between the muscularis and serosa.	
UBERON:0012373	sympathetic nerve plexus	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0012373	A nerve plexus that is part of a sympathetic nervous system.	
MONDO:0003530	aggressive digital papillary adenocarcinoma	biolink:Disease	mondo	DOID:5590|ONCOTREE:ADPA			http://purl.obolibrary.org/obo/MONDO_0003530		DOID:5590
UBERON:0012378	muscle layer of urinary bladder	biolink:AnatomicalEntity	mondo			muscle layer of urinary bladder|muscular coat of bladder|muscular layer of bladder|tunica muscularis (vesica urinaria)|tunica musculari vesicae|bladder muscular coat|muscular coat of urinary bladder|muscular layer of urinary bladder	http://purl.obolibrary.org/obo/UBERON_0012378	A muscular coat that is part of a urinary bladder.	
UBERON:0012377	muscle layer of jejunum	biolink:AnatomicalEntity	mondo			muscularis externa of jejunum|muscularis propria of jejunum|jejunal smooth muscle|smooth muscle of jejunum	http://purl.obolibrary.org/obo/UBERON_0012377	A muscular coat that is part of a jejunum.	
UBERON:0000390	lens nucleus	biolink:AnatomicalEntity	mondo			nucleus of lens	http://purl.obolibrary.org/obo/UBERON_0000390	The core of the crystalline lens, surrounded by the cortex.	
MONDO:0015502	obsolete pinnae and external auditory canal anomaly	biolink:Disease	mondo	Orphanet:156243	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015502		ORPHA:156243
UBERON:0000391	leptomeninx	biolink:AnatomicalEntity	mondo			pia-arachnoid|arachnoid mater and pia mater|pia-arachnoid of neuraxis|arachnoidea mater et pia mater|leptomeninges	http://purl.obolibrary.org/obo/UBERON_0000391	pia mater or arachnoid mater.	
MONDO:0015501	syndrome or malformation associated with head and neck malformations	biolink:Disease	mondo	UMLS:CN199635|Orphanet:156237	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015501		UMLS:CN199635|ORPHA:156237
MONDO:0015500	facial arteriovenous malformation	biolink:Disease	mondo	GARD:0012663|Orphanet:156230|ICD10:Q27.3	ordo_group_of_disorders|gard_rare		http://purl.obolibrary.org/obo/MONDO_0015500	Facial arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the facial area. Lesions may be asymptomatic or may manifest with pain, ulceration, pulsation, tinnitus, minor bleeding or potentially life-threatening hemorrhage, blurred vision, impaired hearing, headache, paresthesia, enlargement of facial bones with intraosseous lesions, intraosseous hemangiomas, and speech, breathing and swallowing difficulties, as well as neuropathy.	ORPHA:156230
MONDO:0015506	rare syndrome with cardiac malformations	biolink:Disease	mondo	Orphanet:156532|UMLS:CN199638	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015506		UMLS:CN199638|ORPHA:156532
MONDO:0015505	tracheal anomaly	biolink:Disease	mondo	Orphanet:156252	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015505		ORPHA:156252
MONDO:0015504	larynx anomaly	biolink:Disease	mondo	ICD10:Q31.0|ICD10:Q31.1|ICD10:Q31.9|ICD10:Q31.8|ICD10:Q31.5|Orphanet:156249|ICD10:Q31.3	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015504		ORPHA:156249
MONDO:0015503	nose and cavum anomaly	biolink:Disease	mondo	Orphanet:156246|ICD10:Q30.9|ICD10:Q30.8|ICD10:Q30.3|ICD10:Q30.2|ICD10:Q30.1|ICD10:Q30.0	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015503		ORPHA:156246
UBERON:0000398	cartilage tissue of sternum	biolink:AnatomicalEntity	mondo			cartilage of sternum	http://purl.obolibrary.org/obo/UBERON_0000398	Any portion of cartilage tissue that is part of the sternum	
UBERON:0000399	jejunal mucosa	biolink:AnatomicalEntity	mondo			mucous membrane of jejunum|jejunum mucosa of organ|organ mucosa of jejunum|mucosa of jejunum|jejunal mucous membrane|jejunum mucosa|jejunum organ mucosa|jejunum mucous membrane|mucosa of organ of jejunum	http://purl.obolibrary.org/obo/UBERON_0000399	A mucosa that is part of a jejunum [Automatically generated definition].	
MONDO:0003528	Volkmann contracture	biolink:Disease	mondo	MESH:D054061|NCIT:C35130|SCTID:111247001|DOID:5587|ICD10:T79.6|ICD9:958.6|UMLS:C0042951		Volkmann's ischemic contracture	http://purl.obolibrary.org/obo/MONDO_0003528	An ischemic contracture of the forearm that most often occurs secondary to trauma.	DOID:5587|UMLS:C0042951|SNOMEDCT:111247001|NCIT:C35130|MESH:D054061
MONDO:0003529	acute pyelonephritis	biolink:Disease	mondo	ICD9:590.1|COHD:4280571|DOID:559|SCTID:36689008|NCIT:C123215|ICD10:N10|UMLS:C0520575		pyelonephritis, acute	http://purl.obolibrary.org/obo/MONDO_0003529	Sudden onset pyelonephritis.	DOID:559|SNOMEDCT:36689008|UMLS:C0520575|NCIT:C123215
UBERON:0000395	cochlear ganglion	biolink:AnatomicalEntity	mondo			spiral ganglion of cochlea|Corti's ganglion|ganglion spirale cochleae|cochlear part of vestibulocochlear ganglion|ganglion of Corti|vestibulocochlear VIII ganglion cochlear component|ganglion cochlearis|spiral ganglion|vestibulocochlear ganglion cochlear component|ganglion spirale	http://purl.obolibrary.org/obo/UBERON_0000395	The group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain and resides on the cochlear part of the vestibulocochlear nerve (eighth cranial nerve)[MP]. distributed to the hair cells of the spiral organ. The cochlear fibers arise in bipolar cells in the spiral ganglion in the modiolus.	
CL:0002494	cardiocyte	biolink:Cell	mondo	CALOHA:TS-0115|FMA:84791|BTO:0001539|FMA:83808		heart cell	http://purl.obolibrary.org/obo/CL_0002494	A cell located in the heart, including both muscle and non muscle cells.	
UBERON:0000397	colonic epithelium	biolink:AnatomicalEntity	mondo			large bowel epithelium|epithelial tissue of colon|epithelium of large bowel|epithelial tissue of large bowel|colon epithelial tissue|colon epithelium|large bowel epithelial tissue|posterior intestine epithelium|epithelium of colon	http://purl.obolibrary.org/obo/UBERON_0000397	An epithelium that is part of a colon [Automatically generated definition].	
NCBITaxon:1502	Clostridium perfringens	organism taxon	mondo	PMID:1374625|GC_ID:11|PMID:184898		Bacterium welchii|Bacillus perfringens|Clostridium plagarum|'Clostridium plagarum'	http://purl.obolibrary.org/obo/NCBITaxon_1502		
MONDO:0003586	esophagus liposarcoma	biolink:Disease	mondo	UMLS:C1333456|NCIT:C5705|DOID:5694		liposarcoma of the esophagus|esophagus liposarcoma|esophageal liposarcoma|liposarcoma of esophagus	http://purl.obolibrary.org/obo/MONDO_0003586	A malignant adipose tissue neoplasm of the esophagus, characterized by multivacuolated lipoblasts with hyperchromatic nuclei, a solid pattern of growth, and a rich vascular network. It arises from the mucosal and submucosal layers of the lower esophagus. Clinical presentation includes progressive dysphagia, nausea, throat discomfort, and foreign body sensation.	UMLS:C1333456|DOID:5694|NCIT:C5705
MONDO:0003587	pediatric liposarcoma	biolink:Disease	mondo	NCIT:C8091|UMLS:C0279984|DOID:5695		liposarcoma|pediatric liposarcoma|childhood liposarcoma	http://purl.obolibrary.org/obo/MONDO_0003587	A rare malignant neoplasm arising from adipocytes, that occurs in children. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma.	NCIT:C8091|DOID:5695|UMLS:C0279984
MONDO:0003588	larynx liposarcoma	biolink:Disease	mondo	NCIT:C6021|UMLS:C1334372|DOID:5696		laryngeal liposarcoma|liposarcoma of larynx|larynx liposarcoma|lip larynx sarcoma|liposarcoma of the larynx	http://purl.obolibrary.org/obo/MONDO_0003588	A rare malignant adipose tissue neoplasm of the larynx. It predominantly affects males. Clinical presentation includes dysphonia, dysphagia and respiratory symptoms. The supraglottis is the most common site of involvement.	DOID:5696|NCIT:C6021|UMLS:C1334372
MONDO:0003589	liposarcoma of the ovary	biolink:Disease	mondo	UMLS:C1335165|NCIT:C6419|DOID:5697		liposarcoma of ovary|ovary liposarcoma|ovarian liposarcoma	http://purl.obolibrary.org/obo/MONDO_0003589	A malignant adipose tissue neoplasm of the ovary.	DOID:5697|NCIT:C6419|UMLS:C1335165
MONDO:0003582	hereditary breast ovarian cancer syndrome	biolink:Disease	mondo	NCIT:C8493|OMIMPS:604370|MESH:D061325|GARD:0012352|ICD10:C56|GARD:0012351|DOID:5683|DC:0000638|Orphanet:145|UMLS:C0677776|SCTID:718220008|ICD10:C50	predisposition|ordo_disease|clingen	hereditary breast and ovarian cancer syndrome|syndromes, HBOC|syndrome, HBOC|breast-ovarian cancer, familial, susceptibility to|HBOC syndrome|BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC)|hereditary breast ovarian cancer|BRCA1- and BRCA2-associated hereditary breast and ovarian cancer|HBOC syndromes|hereditary breast and ovarian cancer|hereditary breast/ovarian cancer (BRCA1, BRCA2)|familial breast and ovarian cancer syndrome|familial breast/ovarian cancer (BRCA1, BRCA2)	http://purl.obolibrary.org/obo/MONDO_0003582	An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer.	ORPHA:145|SNOMEDCT:718220008|DOID:5683|NCIT:C8493|MESH:D061325|UMLS:C0677776
GO:0106119	negative regulation of sterol biosynthetic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0106119	Any process that stops, prevents or reduces the frequency, rate or extent of a sterol biosynthetic process.	
MONDO:0003583	obsolete atypical lipomatous tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003583		
GO:0106118	regulation of sterol biosynthetic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0106118	Any process that modulates the frequency, rate or extent of a sterol biosynthetic process.	
MONDO:0003584	visual cortex disease	biolink:Disease	mondo	UMLS:C0234398|SCTID:128329001|ICD10:H47.6|DOID:5691|ICD9:377.7		visual cortex disease|disorder of visual cortex|disease or disorder of visual cortex|visual cortex dysfunction|disease of visual cortex|visual cortex disorder|visual cortex disease or disorder|disorder of visual cortex	http://purl.obolibrary.org/obo/MONDO_0003584	A disease involving the visual cortex.	DOID:5691|SNOMEDCT:128329001|UMLS:C0234398
MONDO:0003585	adult liposarcoma	biolink:Disease	mondo	NCIT:C7811|UMLS:C0278608|DOID:5693		liposarcoma|adult liposarcoma|liposarcoma of adults	http://purl.obolibrary.org/obo/MONDO_0003585	A malignant neoplasm arising from adipocytes, that occurs in adults. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma.	UMLS:C0278608|DOID:5693|NCIT:C7811
MONDO:0003580	obsolete embryonal testis carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003580		
UBERON:0036337	wall of appendix	biolink:AnatomicalEntity	mondo			appendix wall|wall of vermiform appendix	http://purl.obolibrary.org/obo/UBERON_0036337		
MONDO:0003581	ovarian embryonal carcinoma	biolink:Disease	mondo	SCTID:254872007|NCIT:C8108|UMLS:C0346183|DOID:5681|EFO:1000415|ONCOTREE:OEC		ovary embryonal carcinoma|embryonal carcinoma of the ovary|embryonal carcinoma|embryonal carcinoma of ovary|ovarian embryonal carcinoma	http://purl.obolibrary.org/obo/MONDO_0003581	An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain.	NCIT:C8108|DOID:5681|SNOMEDCT:254872007|UMLS:C0346183
MONDO:0015579	Hb Bart's hydrops fetalis	biolink:Disease	mondo	SCTID:5300004|Orphanet:163596|ICD9:282.49|ICD10:D56.0	ordo_clinical_subtype	homozygous alpha0-thalassemia|Alpha-thalassemia hydrops fetalis|Hemoglobin Bart's hydrops fetalis|Alpha-thalassemia major	http://purl.obolibrary.org/obo/MONDO_0015579	Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.	ORPHA:163596|SNOMEDCT:5300004
MONDO:0015578	obsolete rare mycosis	biolink:Disease	mondo	Orphanet:163591	ordo_group_of_disorders|obsoletion_candidate	rare fungal infectious disease	http://purl.obolibrary.org/obo/MONDO_0015578	Rare fungal infectious disease.	ORPHA:163591
UBERON:0036328	wall of coronary artery	biolink:AnatomicalEntity	mondo			coronary arterial wall	http://purl.obolibrary.org/obo/UBERON_0036328		
MONDO:0015577	obsolete rare parasitic disease	biolink:Disease	mondo	UMLS:CN199940|Orphanet:163588	ordo_group_of_disorders|obsoletion_candidate	rare parasitic infection|rare parasitic infectious disease	http://purl.obolibrary.org/obo/MONDO_0015577	Any of the forms of parasitic infection that have a rare incidence.	ORPHA:163588|UMLS:CN199940
CL:0002465	CD11b-positive dendritic cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002465	A conventional dendritic cell that expresses CD11b (ITGAM).	
MONDO:0015576	obsolete rare viral disease	biolink:Disease	mondo	Orphanet:163585|UMLS:CN199939	ordo_group_of_disorders|obsoletion_candidate	rare viral infectious disease|rare viral disease	http://purl.obolibrary.org/obo/MONDO_0015576	Rare viral disease.	ORPHA:163585|UMLS:CN199939
HP:0032039	Abnormality of the ocular adnexa	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0032039	An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.	
MONDO:0015571	deletion 5q35	biolink:Disease	mondo	MESH:C537647|ICD10:Q93.5|SCTID:721158009|Orphanet:1627	ordo_malformation_syndrome	deletion type 5q35|Del (5)(qter)|Del (5)(q35)|monosomy 5q35|distal 5q deletion|telomeric deletion 5q	http://purl.obolibrary.org/obo/MONDO_0015571	(5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment.	ORPHA:1627|MESH:C537647|SNOMEDCT:721158009
MONDO:0015570	isolated congenital auditory ossicle malformation	biolink:Disease	mondo	ICD10:Q16.3|Orphanet:162526	ordo_morphological_anomaly	congenital auditory ossicle malformation without external ear abnormality	http://purl.obolibrary.org/obo/MONDO_0015570	Isolated congenital auditory ossicle malformation is a rare, congential, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients frequently present late, after schooling has started, with non- progressive, conductive hearing loss often associated with speech delay and poor school performance.	ORPHA:162526
MONDO:0015575	obsolete rare bacterial infectious disease	biolink:Disease	mondo	Orphanet:163582	ordo_group_of_disorders|obsoletion_candidate	rare bacterial infectious disease	http://purl.obolibrary.org/obo/MONDO_0015575	Rare bacterial infectious disease.	ORPHA:163582
NCBITaxon:2082224	Strongyloidoidea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2082224		
MONDO:0015574	chronic cutaneous lupus erythematosus	biolink:Disease	mondo	Orphanet:163531|MedDRA:10057929|ICD10:L93.2|ICD10:L93.0|UMLS:CN226705	ordo_group_of_disorders	cutaneous lupus erythematosus, chronic	http://purl.obolibrary.org/obo/MONDO_0015574	Chronic cutaneous lupus erythematosus (CCLE) is a form of cutaneous lupus erythematosus (CLE) that includes five different forms: discoid lupus erythematosus (DLE), chilblain lupus, hypertrophic or verrucous lupus erythematosus, lupus erythematosus tumidus, and lupus erythematosus panniculitis.	UMLS:CN226705|ORPHA:163531|MEDDRA:10057929
NCBITaxon:2082223	Panagrolaimomorpha	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2082223		
MONDO:0015573	subacute cutaneous lupus erythematosus	biolink:Disease	mondo	NCIT:C117111|MedDRA:10057903|UMLS:C0024140|SCTID:239891002|Orphanet:163525|ICD10:L93.1	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015573	Subacute cutaneous lupus erythematosus (SCLE) is a form of cutaneous lupus erythematosus (CLE) that can present either as a non-scarring, annular photo-distributed dermatosis or psoriasiform plaques. SCLE is associated with anti-Ro/SSA antibodies and can be drug-induced.	SNOMEDCT:239891002|UMLS:C0024140|ORPHA:163525|MEDDRA:10057903|NCIT:C117111
HGNC:12572	UNG	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12572		
MONDO:0015572	cerebral malformation due to abnormal neuronal migration	biolink:Disease	mondo	Orphanet:163209|ICD10:Q04.8	ordo_group_of_disorders	non-syndromic cerebral malformation due to abnormal neuronal migration|brain malformation due to abnormal neuronal migration	http://purl.obolibrary.org/obo/MONDO_0015572		ORPHA:163209
CL:0002460	CD8alpha-negative thymic conventional dendritic cell	biolink:Cell	mondo			DC.8-.Th	http://purl.obolibrary.org/obo/CL_0002460	A conventional thymic dendritic cell that is CD8alpha-negative.	
GO:0050994	regulation of lipid catabolic process	biolink:OntologyClass	mondo			regulation of lipid catabolism|regulation of lipid degradation|regulation of lipid breakdown	http://purl.obolibrary.org/obo/GO_0050994	Any process that modulates the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of lipids.	
GO:0106122	negative regulation of cobalamin metabolic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0106122	Any process that stops, prevents or reduces the frequency, rate or extent of a cobalamin metabolic process.	
GO:0050995	negative regulation of lipid catabolic process	biolink:OntologyClass	mondo			downregulation of lipid catabolic process|negative regulation of lipid degradation|inhibition of lipid catabolic process|negative regulation of lipid breakdown|negative regulation of lipid catabolism|down-regulation of lipid catabolic process|down regulation of lipid catabolic process	http://purl.obolibrary.org/obo/GO_0050995	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of lipids.	
GO:0106121	positive regulation of cobalamin metabolic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0106121	Any process that activates or increases the frequency, rate or extent of a cobalamin metabolic process.	
HGNC:24565	KANSL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24565		
GO:0106120	positive regulation of sterol biosynthetic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0106120	Any process that activates or increases the frequency, rate or extent of a sterol biosynthetic process.	
NCBITaxon:1513	Clostridium tetani	organism taxon	mondo	GC_ID:11		Bacillus tetani	http://purl.obolibrary.org/obo/NCBITaxon_1513		
MONDO:0003597		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003597		
MONDO:0003598	median nerve neuropathy	biolink:Disease	mondo	ICD10:G56.1|ICD9:354.1|ICD10:G56.10|SCTID:397828008|MESH:D020423|DOID:571		median nerve palsy|median nerve peripheral neuropathy|median neuropathy|peripheral neuropathy of median nerve	http://purl.obolibrary.org/obo/MONDO_0003598	Disease involving the median nerve, from its origin at the brachial plexus to its termination in the hand. Clinical features include weakness of wrist and finger flexion, forearm pronation, thenar abduction, and loss of sensation over the lateral palm, first three fingers, and radial half of the ring finger. Common sites of injury include the elbow, where the nerve passes through the two heads of the pronator teres muscle (pronator syndrome) and in the carpal tunnel (carpal tunnel syndrome).	DOID:571|SNOMEDCT:397828008|MESH:D020423
MONDO:0003599	vulvar liposarcoma	biolink:Disease	mondo	UMLS:C2184082|DOID:5711|NCIT:C40321		liposarcoma of mammalian vulva|mammalian vulva liposarcoma|vulvar liposarcoma	http://purl.obolibrary.org/obo/MONDO_0003599	A rare malignant adipose tissue neoplasm of the vulva.	DOID:5711|UMLS:C2184082|NCIT:C40321
GO:0050996	positive regulation of lipid catabolic process	biolink:OntologyClass	mondo			up-regulation of lipid catabolic process|positive regulation of lipid breakdown|up regulation of lipid catabolic process|activation of lipid catabolic process|stimulation of lipid catabolic process|upregulation of lipid catabolic process|positive regulation of lipid catabolism|positive regulation of lipid degradation	http://purl.obolibrary.org/obo/GO_0050996	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of lipids.	
MONDO:0003593	breast liposarcoma	biolink:Disease	mondo	DOID:5701|NCIT:C5187|UMLS:C1332632		liposarcoma of breast|liposarcoma of the breast|breast liposarcoma	http://purl.obolibrary.org/obo/MONDO_0003593	A malignant adipose tissue neoplasm of the breast.	UMLS:C1332632|DOID:5701|NCIT:C5187
UBERON:0036343	wall of gallbladder	biolink:AnatomicalEntity	mondo			gallbladder wall	http://purl.obolibrary.org/obo/UBERON_0036343		
MONDO:0003594	mixed liposarcoma	biolink:Disease	mondo	NCIT:C4253|ICDO:8855/3|UMLS:C0334472|DOID:5703		mixed liposarcoma|mixed liposarcoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003594	A malignant neoplasm characterized by the presence of a combination of liposarcomatous morphologic subtypes: myxoid/round cell and well differentiated/dedifferentiated liposarcoma or myxoid/round cell and pleomorphic liposarcoma.	DOID:5703|NCIT:C4253|UMLS:C0334472
MONDO:0003595	sclerosing liposarcoma	biolink:Disease	mondo	SCTID:404068003|ICD9:171.9|DOID:5704|UMLS:C0334469|NCIT:C6507			http://purl.obolibrary.org/obo/MONDO_0003595	A morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum and paratesticular area. It is characterized by the presence of bizarre hyperchromatic stromal cells and rare multivacuolated lipoblasts within a fibrous stroma.	DOID:5704|SNOMEDCT:404068003|NCIT:C6507|UMLS:C0334469
MONDO:0003596	spindle cell liposarcoma	biolink:Disease	mondo	SCTID:404073009|NCIT:C27489|UMLS:C1275275|ICD9:171.9|DOID:5705		spindle cell liposarcoma	http://purl.obolibrary.org/obo/MONDO_0003596	A morphologic variant of well differentiated liposarcoma characterized by the presence of bland spindle cells and lipoblasts within a myxoid or fibrous stroma.	SNOMEDCT:404073009|DOID:5705|NCIT:C27489|UMLS:C1275275
MONDO:0003590	fibroblastic liposarcoma	biolink:Disease	mondo	DOID:5698|NCIT:C6509|ICDO:8857/3|UMLS:C1266130		fibroblastic liposarcoma (morphologic abnormality)|fibroblastic liposarcoma	http://purl.obolibrary.org/obo/MONDO_0003590	A liposarcoma characterized by the presence of a fibroblastic component.	NCIT:C6509|UMLS:C1266130|DOID:5698
HGNC:24564	C2CD3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24564		
MONDO:0003591	kidney liposarcoma	biolink:Disease	mondo	DOID:5699|NCIT:C6185|UMLS:C1335745		renal liposarcoma|liposarcoma of the kidney|liposarcoma of kidney|kidney liposarcoma	http://purl.obolibrary.org/obo/MONDO_0003591	A rare malignant adipose tissue neoplasm of the fat cells surrounding the kidney, usually of the well-differentiated or myxoid type. It may be associated with tuberous sclerosis.	NCIT:C6185|UMLS:C1335745|DOID:5699
MONDO:0003592	gastric liposarcoma	biolink:Disease	mondo	UMLS:C1333778|DOID:5700|NCIT:C5488		liposarcoma of the stomach|stomach liposarcoma|liposarcoma of stomach|gastric liposarcoma	http://purl.obolibrary.org/obo/MONDO_0003592	A malignant adipose tissue neoplasm of the stomach.	DOID:5700|NCIT:C5488|UMLS:C1333778
MONDO:0015568	isolated congenital nasal pyriform aperture stenosis	biolink:Disease	mondo	ICD10:Q30.8|Orphanet:162516	ordo_malformation_syndrome	isolated apertura pyriformis stenosis|isolated nasal pyriform aperture hypoplasia	http://purl.obolibrary.org/obo/MONDO_0015568		ORPHA:162516
MONDO:0015567	cataract-glaucoma syndrome	biolink:Disease	mondo	UMLS:CN199931|Orphanet:162|ICD10:Q12.0|SCTID:718851007	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0015567	Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.	ORPHA:162|SNOMEDCT:718851007|UMLS:CN199931
MONDO:0015566	2q24 microdeletion syndrome	biolink:Disease	mondo	MESH:C538316|UMLS:CN036809|ICD10:Q93.5|SCTID:719658006|Orphanet:1617|GARD:0003746	ordo_malformation_syndrome	2q24 deletion|Del(2)(q24)|chromosome 2q24 microdeletion syndrome|monosomy 2q24|deletion 2q24	http://purl.obolibrary.org/obo/MONDO_0015566	2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.	MESH:C538316|ORPHA:1617|UMLS:CN036809|UMLS:C2931816|SNOMEDCT:719658006
GO:0060300	regulation of cytokine activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060300	Any process that modulates the rate, frequency or extent of the activity of a molecule that controls the survival, growth, differentiation and effector function of tissues and cells.	
MONDO:0015565	cap polyposis	biolink:Disease	mondo	UMLS:C4303971|ICD10:D12.6|SCTID:720604008|Orphanet:160148	ordo_disease	Cap inflammatory polyposis|polypoid prolapsing folds|eroded polypoid hyperplasia|inflammatory myoglandular polyps	http://purl.obolibrary.org/obo/MONDO_0015565	Cap polyposis (CP) is a rare colorectal disease characterized by multiple inflammatory polyps that predominantly affect the rectosigmoid area and that manifests primarily as rectal bleeding with abnormal transit, constipation and diarrhea.	SNOMEDCT:720604008|UMLS:C4303971|ORPHA:160148
HGNC:12586	UQCRC2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12586		
GO:0060301	positive regulation of cytokine activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060301	Any process that increases the rate, frequency or extent of the activity of a molecule that controls the survival, growth, differentiation and effector function of tissues and cells.	
GO:0060302	negative regulation of cytokine activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060302	Any process that decreases the rate, frequency or extent of the activity of a molecule that controls the survival, growth, differentiation and effector function of tissues and cells.	
MONDO:0015569	congenital nasal pyriform aperture stenosis with holoprosencephaly	biolink:Disease	mondo	Orphanet:162521|ICD10:Q30.8	ordo_malformation_syndrome	apertura pyriformis with holoprosencephaly	http://purl.obolibrary.org/obo/MONDO_0015569		ORPHA:162521
GO:0098936	intrinsic component of postsynaptic membrane	biolink:OntologyClass	mondo			intrinsic to postsynaptic membrane	http://purl.obolibrary.org/obo/GO_0098936	The component of the postsynaptic membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane.	
MONDO:0015560	obsolete classic mast cell leukemia	biolink:Disease	mondo	Orphanet:158796|ICD10:C94.3			http://purl.obolibrary.org/obo/MONDO_0015560		ORPHA:158796
MONDO:0015564	Castleman disease	biolink:Disease	mondo	UMLS:CN199886|MedDRA:10050251|EFO:1001332|Orphanet:160|UMLS:C2931179|NCIT:C3056|GARD:0000673|ICD10:D47.4|UMLS:C0017531|ICD10:D47.Z2|DOID:0111157|GARD:0012656|SCTID:207036003	gard_rare|ordo_disease	angiofollicular lymph node hyperplasia|Castleman's disease|angiofollicular lymphoid hyperplasia|AFLH|GLNH|ALNH|angiofollicular ganglionic hyperplasia|lymphoid hamartoma|giant lymph node hyperplasia|angiofollicular lymph node hyperplasia|Castleman disease|Castleman's tumor|angiofollicular lymph hyperplasia	http://purl.obolibrary.org/obo/MONDO_0015564	Castleman disease (CD) is a benign lymphoproliferative disorder that may present as a localized or multicentric form. The clinical manifestations are heterogeneous, ranging from asymptomatic discrete lymphadenopathy to recurrent episodes of diffuse lymphadenopathy with severe systemic symptoms.	ORPHA:160|DOID:0111157|MESH:C536362|MEDDRA:10050251|UMLS:C2931179|UMLS:CN199886|SNOMEDCT:207036003|UMLS:C0017531|MESH:D005871|NCIT:C3056
MONDO:0015563	obsolete blue cone monochromatism	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015563		
MONDO:0015562	distal monosomy 17q	biolink:Disease	mondo	UMLS:C4275171|Orphanet:1597|SCTID:715365000|GARD:0010972|ICD10:Q93.5	ordo_malformation_syndrome	chromosome 17q deletion|deletion 17q|distal 17q deletion|distal monosomy type 17q|monosomy 17q|partial monosomy 17q|17q deletion|monosomy 17qter|telomeric deletion 17q|17q monosomy	http://purl.obolibrary.org/obo/MONDO_0015562	Distal monosomy 17q is a very rare chromosomal disorder of unknown prevalence characterized by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. The deletions include 17(q21.3q23), 17(q21.3q24.2), 17(q23.q24.3) and 17(q23.1q24.2).	ORPHA:1597|UMLS:C4275171|SNOMEDCT:715365000
MONDO:0015561	aleukemic mast cell leukemia	biolink:Disease	mondo	Orphanet:158799|ICD10:C94.3	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015561	10%) in the bone marrow and/or blood, as well as other tissues such as the liver, peritoneum, spleen or bones. Patients typically present with symptoms related to mast cell activation (e.g. hot flushes, fever, malaise, diarrhea, tachycardia), weight loss, anorexia, hepatosplenomegaly or, less frequently, cutaneous mastocytosis. Gastroduodenal ulcers (often complicated by hemorrhage), ascites and portal hypertension have also been reported.	ORPHA:158799
HGNC:12582	UQCRB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12582		
MONDO:0003568	disorder of optic chiasm	biolink:Disease	mondo	SCTID:70476006|UMLS:C0155307|ICD10:H47.4|DOID:5655|ICD9:377.63|ICD9:377.5		disorder of optic chiasm|chiasmal syndrome|disorder of optic chiasma|disease or disorder of optic chiasma|chiasma syndrome|optic chiasma disease or disorder|optic chiasma disease|disease of optic chiasma|disorder of optic chiasma	http://purl.obolibrary.org/obo/MONDO_0003568	A disease that involves the optic chiasma.	SNOMEDCT:70476006|DOID:5655|UMLS:C0155307
MONDO:0003569	cranial nerve neuropathy	biolink:Disease	mondo	NCIT:C26733|COHD:441848|MESH:D003389|SCTID:73013002|DOID:5656|ICD9:352.9|UMLS:C0010266|ICD10:G52.9		cranial neuropathy|cranial neuron projection bundle disease or disorder|cranial nerve disease|disorder of cranial neuron projection bundle|cranial nerve disorder|disease of cranial neuron projection bundle|cranial nerve disease|cranial nerve disorder|disorder of cranial neuron projection bundle|disorder of cranial nerve|disease or disorder of cranial neuron projection bundle|cranial neuron projection bundle disease	http://purl.obolibrary.org/obo/MONDO_0003569	A neoplastic or non-neoplastic disorder that affects one of the cranial nerves.	NCIT:C26733|MESH:D003389|DOID:5656|SNOMEDCT:73013002|UMLS:C0010266
MONDO:0003564	localized pulmonary fibrosis	biolink:Disease	mondo	UMLS:C0340127|NCIT:C27103|DOID:5642|SCTID:233726000			http://purl.obolibrary.org/obo/MONDO_0003564	Replacement of the lung tissue by connective tissue in a specific area of the lung.	DOID:5642|NCIT:C27103|UMLS:C0340127|SNOMEDCT:233726000
HGNC:24539	NECAP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24539		
MONDO:0003565	urethral villous adenoma	biolink:Disease	mondo	UMLS:C1519828|NCIT:C39872|DOID:5643		urethral villous adenoma|urethra villous adenoma	http://purl.obolibrary.org/obo/MONDO_0003565	An epithelial neoplasm of the urethra, which is morphologically characterized by the presence of a villous architectural pattern.	DOID:5643|UMLS:C1519828|NCIT:C39872
UBERON:0036352	wall of subclavian artery	biolink:AnatomicalEntity	mondo			subclavian arterial wall	http://purl.obolibrary.org/obo/UBERON_0036352		
MONDO:0003566	obsolete choroid plexus carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003566		
HGNC:24537	CHMP2B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24537		
MONDO:0003567	bilateral hypoactive labyrinth	biolink:Disease	mondo	SCTID:194375009|UMLS:C0155518|DOID:565|ICD9:386.54		hypoactive labyrinth, bilateral|hypoactive bilateral labyrinthine dysfunction	http://purl.obolibrary.org/obo/MONDO_0003567		SNOMEDCT:194375009|DOID:565|UMLS:C0155518
MONDO:0003560	obsolete adenosquamous pancreas carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003560		
MONDO:0003561	malignant giant cell tumor of soft parts	biolink:Disease	mondo	DOID:5638|ICDO:9251/3|UMLS:C0334554|NCIT:C8380		malignant giant cell tumor of soft parts|malignant giant cell neoplasm of soft parts|giant cell malignant fibrous histiocytoma|undifferentiated pleomorphic sarcoma with osteoclast-like giant cells|malignant giant cell tumor of soft parts (morphologic abnormality)|giant cell fibrous histiocytoma|malignant Osteoclastoma	http://purl.obolibrary.org/obo/MONDO_0003561	An undifferentiated pleomorphic sarcoma characterized by the presence of osteoclast-like giant cells and cellular pleomorphism.	DOID:5638|NCIT:C8380|UMLS:C0334554
MONDO:0003562	rete testis neoplasm	biolink:Disease	mondo	UMLS:C1514912|DOID:5639|NCIT:C39955		tumor of rete testis|neoplasm of rete testis|rete testis tumor|rete testis neoplasm (disease)|rete testis neoplasm	http://purl.obolibrary.org/obo/MONDO_0003562	A benign or malignant neoplasm that affects the rete testis. Representative examples include adenoma and adenocarcinoma.	DOID:5639|UMLS:C1514912|NCIT:C39955
MONDO:0003563	diffuse pulmonary fibrosis	biolink:Disease	mondo	NCIT:C27216|UMLS:C0865849|DOID:5641			http://purl.obolibrary.org/obo/MONDO_0003563	Diffuse replacement of the lung tissue by connective tissue.	DOID:5641|NCIT:C27216|UMLS:C0865849
MONDO:0015557	Smouldering systemic mastocytosis	biolink:Disease	mondo	Orphanet:158775|ICD10:C96.2	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0015557	Smouldering systemic mastocytosis is a type of systemic mastocytosis (SM). This clonal hematologic disease, with a slow progression, results in an accumulation of neoplastic mast cells in the visceral organs over time and patients present with splenomegaly, hypercellular marrow and, in some cases, urticaria pigmentosa-like skin lesions.	ORPHA:158775
MONDO:0015556	nodular urticaria pigmentosa	biolink:Disease	mondo	ICD10:Q82.2|Orphanet:158772	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0015556		ORPHA:158772
MONDO:0015555	plaque-form urticaria pigmentosa	biolink:Disease	mondo	Orphanet:158769|ICD10:Q82.2	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0015555		ORPHA:158769
MONDO:0015554	typical urticaria pigmentosa	biolink:Disease	mondo	ICD10:Q82.2|Orphanet:158766	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0015554		ORPHA:158766
HGNC:12559	UMOD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12559		
MONDO:0015559	lymphoadenopathic mastocytosis with eosinophilia	biolink:Disease	mondo	ICD10:C96.2|Orphanet:158793	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0015559		ORPHA:158793
MONDO:0015558	isolated bone marrow mastocytosis	biolink:Disease	mondo	ICD10:C96.2|Orphanet:158778	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0015558		ORPHA:158778
HGNC:24529	TMEM98	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24529		
MONDO:0015553	dystrophic epidermolysis bullosa, nails only	biolink:Disease	mondo	UMLS:CN199732|ICD10:Q81.2|SCTID:722436002|Orphanet:158676	ordo_disease	dominant dystrophic epidermolysis bullosa, nails only|nails-only DDEB|DEB-na|nails-only DEB	http://purl.obolibrary.org/obo/MONDO_0015553	Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB) that shows no blistering and that is characterized by dystrophic or absent nails.	SNOMEDCT:722436002|ORPHA:158676|UMLS:CN199732
MONDO:0015552	acral dystrophic epidermolysis bullosa	biolink:Disease	mondo	ICD10:Q81.2|UMLS:CN199731|SCTID:733638006|Orphanet:158673|UMLS:C4518087	ordo_disease	DEB-ac|DEB, acral	http://purl.obolibrary.org/obo/MONDO_0015552	Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blistering confined primarily to the hands and feet.	SNOMEDCT:733638006|ORPHA:158673|UMLS:CN199731|UMLS:C4518087
GO:0098900	regulation of action potential	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0098900	Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels.	
ENVO:00000248	glacial valley	biolink:OntologyClass	mondo			valley	http://purl.obolibrary.org/obo/ENVO_00000248	A valley that contains, or contained, a glacier and was formed by glacial activity. Typically U-shaped in cross-section.	
MONDO:0015551	basal epidermolysis bullosa simplex	biolink:Disease	mondo	UMLS:C4302031|ICD10:Q81.0|Orphanet:158665|SCTID:723163000	ordo_group_of_disorders	stratum basale of epidermis epidermolysis bullosa simplex|epidermolysis bullosa simplex of stratum basale of epidermis	http://purl.obolibrary.org/obo/MONDO_0015551	A form of epidermolysis bullosa simplex in which blistering occurs within the basal keratinocytes.	UMLS:C4302031|ORPHA:158665|SNOMEDCT:723163000
MONDO:0015550	suprabasal epidermolysis bullosa simplex	biolink:Disease	mondo	UMLS:C4511300|ICD10:Q81.0|Orphanet:158661|SCTID:724840004	ordo_group_of_disorders	epidermolysis bullosa simplex of epidermis suprabasal layer|epidermis suprabasal layer epidermolysis bullosa simplex	http://purl.obolibrary.org/obo/MONDO_0015550	A form of epidermolysis bullosa simplex in which blistering occurs above the basal keratinocytes.	SNOMEDCT:724840004|ORPHA:158661|UMLS:C4511300
MONDO:0003579	retinal nerve fibre layer disorder	biolink:Disease	mondo	ICD9:362.85|SCTID:193428001|DOID:5678|UMLS:C3665426		nerve fiber layer of retina disease|nerve fiber layer of retina disease or disorder|retinal nerve fiber bundle defects|nerve fibre bundle defect|disease of nerve fiber layer of retina|disorder of nerve fiber layer of retina|disorder of nerve fiber layer of retina|retinal nerve fiber bundle deficiency|disease or disorder of nerve fiber layer of retina	http://purl.obolibrary.org/obo/MONDO_0003579	A disease that involves the nerve fiber layer of retina.	UMLS:C3665426|DOID:5678|SNOMEDCT:193428001
MONDO:0003575	comedocarcinoma	biolink:Disease	mondo	ICDO:8501/3|NCIT:C4188|UMLS:C0334370|DOID:5670		Comedocarcinoma|comedo carcinoma	http://purl.obolibrary.org/obo/MONDO_0003575	A high grade carcinoma characterized by the presence of comedo-type of tumor cell necrosis in which the necrotic areas are surrounded by a solid proliferation of malignant pleomorphic cells.	DOID:5670|NCIT:C4188|UMLS:C0334370
MONDO:0003576		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003576		
MONDO:0003577	obsolete cribriform carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003577		
MONDO:0003578	extragonadal nonseminomatous germ cell tumor	biolink:Disease	mondo	NCIT:C8885|UMLS:C1334582|DOID:5677		malignant tumor of the extragonadal non-seminomatous germ cell|malignant tumor of extragonadal non-seminomatous germ cell|cancer of the extragonadal non-seminomatous germ cell|cancer of extragonadal non-seminomatous germ cell|malignant extragonadal non-seminomatous germ cell neoplasm|extragonadal primary Nonseminoma|malignant extragonadal Nonseminoma|primary malignant extragonadal Nonseminoma|malignant neoplasm of the extragonadal non-seminomatous germ cell|malignant neoplasm of extragonadal non-seminomatous germ cell|extragonadal non-seminomatous germ cell cancer|malignant extragonadal non-seminomatous germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0003578	A malignant non-seminomatous germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary.	UMLS:C1334582|DOID:5677|NCIT:C8885
UBERON:0036362	wall of anal canal	biolink:AnatomicalEntity	mondo			anal canal wall	http://purl.obolibrary.org/obo/UBERON_0036362		
MONDO:0003571	obsolete labyrinthine dysfunction	biolink:Disease	mondo	SCTID:5239005|ICD10:H83.2X|ICD10:H83.2|ICD9:386.5|DOID:566|UMLS:C0155514|COHD:78771|ICD10:H83.2X9|ICD9:386.50|ICD9:386.58			http://purl.obolibrary.org/obo/MONDO_0003571		SNOMEDCT:5239005|DOID:566|UMLS:C0155514
MONDO:0003572	nasopharyngeal type undifferentiated carcinoma	biolink:Disease	mondo	ICDO:8082/3|UMLS:C0334254|DOID:5660|NCIT:C4107		nasopharyngeal type undifferentiated carcinoma|lymphoepithelioma|lymphoepithelial carcinoma|Schminke tumor|lymphoepithelioma-like carcinoma|Schmincke tumor	http://purl.obolibrary.org/obo/MONDO_0003572	A nonkeratinizing carcinoma which occurs predominantly in the nasopharynx but also in the tonsils and rarely in other anatomic sites. It is characterized by the presence of large malignant cells with vesicular nuclei, prominent nucleoli, syncytial growth pattern, and a lymphoplasmacytic infiltrate.	DOID:5660|NCIT:C4107|UMLS:C0334254
MONDO:0003573	pleomorphic carcinoma	biolink:Disease	mondo	ICDO:8022/3|NCIT:C4094|DOID:5662|UMLS:C0334233		pleomorphic carcinoma (morphologic abnormality)|pleomorphic carcinoma	http://purl.obolibrary.org/obo/MONDO_0003573	A usually aggressive malignant epithelial neoplasm composed of cells with significant cytologic atypia and nuclear pleomorphism.	DOID:5662|NCIT:C4094|UMLS:C0334233
MONDO:0003574	external ear cancer	biolink:Disease	mondo	DOID:5665|SCTID:277156006|UMLS:C0349576|NCIT:C4653		external ear cancer|cancer of external ear|malignant tumor of external Ear|malignant tumor of the external Ear|malignant external ear neoplasm|malignant external Ear neoplasm|malignant neoplasm of external ear|malignant neoplasm of external Ear|malignant external Ear tumor|malignant neoplasm of the external Ear|malignant neoplasm of the external ear	http://purl.obolibrary.org/obo/MONDO_0003574	A malignant neoplasm involving the external ear.	DOID:5665|UMLS:C0349576|SNOMEDCT:277156006|NCIT:C4653
MONDO:0003570	lipid-rich carcinoma	biolink:Disease	mondo	UMLS:C0334318|DOID:5658|NCIT:C4152|ICDO:8314/3		lipid-rich carcinoma|lipid-rich carcinoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003570	A carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids. A representative example is the lipid-rich breast carcinoma.	DOID:5658|NCIT:C4152|UMLS:C0334318
MONDO:0015546	non-distal monosomy 10q	biolink:Disease	mondo	ICD10:Q93.5|Orphanet:1581	ordo_malformation_syndrome	non-distal deletion 10q|non-telomeric monosomy 10q|non-distal monosomy type 10q	http://purl.obolibrary.org/obo/MONDO_0015546	Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported.	ORPHA:1581
GO:2001141	regulation of RNA biosynthetic process	biolink:OntologyClass	mondo			regulation of RNA biosynthesis|regulation of RNA anabolism|regulation of RNA synthesis|regulation of RNA formation	http://purl.obolibrary.org/obo/GO_2001141	Any process that modulates the frequency, rate or extent of RNA biosynthetic process.	
MONDO:0015545	macrophage activation syndrome	biolink:Disease	mondo	UMLS:C1096155|Orphanet:158061|MedDRA:10053867|SCTID:430478003|GARD:0012124|NCIT:C114471|EFO:1001806|MESH:D055501	gard_rare|ordo_clinical_syndrome	reactive hemophagocytic lymphohistiocytosis|MAS	http://purl.obolibrary.org/obo/MONDO_0015545	A complication of rheumatic disease that is caused by excessive activation and uncontrolled proliferation of T lymphocytes and well-differentiated macrophages. It is characterized by fever, pancytopenia, liver insufficiency, coagulopathy and neurologic symptoms.	SNOMEDCT:430478003|MEDDRA:10053867|MESH:D055501|UMLS:C1096155|ORPHA:158061|NCIT:C114471
CL:0002454	Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell	biolink:Cell	mondo			DC.8-4-11b+|spleen double-negative dendritic cell	http://purl.obolibrary.org/obo/CL_0002454	Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell is a conventional dendritic cell that is CD11b-positive, CD4-negative, CD8_alpha-negative and is CD205-positive.	
MONDO:0015544	acquired hemophagocytic lymphohistiocytosis associated with malignant disease	biolink:Disease	mondo	UMLS:CN199702|Orphanet:158057	ordo_clinical_situation		http://purl.obolibrary.org/obo/MONDO_0015544		ORPHA:158057|UMLS:CN199702
GO:0060322	head development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060322	The biological process whose specific outcome is the progression of a head from an initial condition to its mature state. The head is the anterior-most division of the body.	
HGNC:12565	UNC119	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12565		
CL:0002453	oligodendrocyte precursor cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002453	The cell type from which oligodendrocytes develop. This cell originates from multiple structures within the developing brain including the medial ganglion eminence and the lateral ganglionic eminence. These cells migrate throughout the central nervous system and persist into adulthood where they play an important role in remyelination of injured neurons.	
MONDO:0015543	hemophagocytic syndrome associated with an infection	biolink:Disease	mondo	UMLS:CN199701|Orphanet:158048	ordo_clinical_situation	VAHS|Virus-associated hemophagocytic syndrome|Virus-associated hemophagocytis syndrome|IAHS	http://purl.obolibrary.org/obo/MONDO_0015543		ORPHA:158048|UMLS:CN199701
MONDO:0015549	obsolete rare genetic hematologic disease	biolink:Disease	mondo	Orphanet:158300|UMLS:CN199710	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015549		UMLS:CN199710|ORPHA:158300
MONDO:0015548	Huntington disease-like syndrome	biolink:Disease	mondo	SCTID:702376003|UMLS:C3711380|MESH:C580174|ICD9:333.99|Orphanet:158266	ordo_group_of_disorders	Huntington disease phenocopy syndrome	http://purl.obolibrary.org/obo/MONDO_0015548		SNOMEDCT:702376003|UMLS:C3711380|ORPHA:158266|MESH:C580174
GO:0098916	anterograde trans-synaptic signaling	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0098916	Cell-cell signaling from pre to post-synapse, across the synaptic cleft.	
GO:0060326	cell chemotaxis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0060326	The directed movement of a motile cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis).	
CL:0002457	epidermal Langerhans cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002457	A Langerhans cell that is in the epidermis and is CD45-positive, MHCII-positive, and CD11b-positive.	
MONDO:0015547	genetic dementia	biolink:Disease	mondo	Orphanet:158124	ordo_group_of_disorders	genetic dementia	http://purl.obolibrary.org/obo/MONDO_0015547	Genetic dementia.	ORPHA:158124
MONDO:0015542	secondary hemophagocytic lymphohistiocytosis	biolink:Disease	mondo	UMLS:CN199700|Orphanet:158041|UMLS:C4054044|NCIT:C121184|UMLS:C0019068	ordo_group_of_disorders	acquired hemophagocytic syndrome|acquired hemophagocytic lymphohistiocytosis|reactive hemophagocytic syndrome	http://purl.obolibrary.org/obo/MONDO_0015542	Hemophagocytic lymphohistiocytosis due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia.	NCIT:C121184|ORPHA:158041|UMLS:C0019068|UMLS:C4054044|UMLS:CN199700
HGNC:12563	UMPS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12563		
MONDO:0015541	genetic hemophagocytic lymphohistiocytosis	biolink:Disease	mondo	MedDRA:10070904|SCTID:398250003|OMIMPS:267700|ICD9:238.79|Orphanet:158038	ordo_group_of_disorders	genetic hemophagocytic syndrome|familial hemophagocytic lymphohistiocytosis|primary hemophagocytic lymphohistiocytosis|genetic hemophagocytic lymphohistiocytosis	http://purl.obolibrary.org/obo/MONDO_0015541	Genetic hemophagocytic lymphohistiocytosis.	SNOMEDCT:398250003|MEDDRA:10070904|ORPHA:158038
MONDO:0015540	hemophagocytic syndrome	biolink:Disease	mondo	ICD10:D76.1|MedDRA:10058125|NCIT:C34792|SCTID:234437005|UMLS:C3887558|GARD:0006589|UMLS:C0024291|ICD9:288.8|COHD:439789|DOID:0050120|NCIT:C35439|Orphanet:158032	gard_rare|ordo_group_of_disorders	hemophagocytic lymphohistiocytosis|hemophagocytic syndrome|hemophagocytic disorder|FHL|familial hemophagocytic lymphohistiocytosis|HPS|familial erythrophagocytic lymphohistiocytosis|familial histiocytic reticulosis|haemophagocytic syndrome|HLH	http://purl.obolibrary.org/obo/MONDO_0015540	Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis).	NCIT:C35439|DOID:0050120|UMLS:C3887558|NCIT:C34792|ORPHA:158032|MEDDRA:10058125|UMLS:C0024291|SNOMEDCT:234437005
MONDO:0021251	endometrium neoplasm	biolink:Disease	mondo	ICD9:239.5|MESH:D016889|NCIT:C3012|SCTID:123844007		tumor of the endometrium|neoplasm of endometrium|endometrium tumor|endometrium neoplasm (disease)|endometrial neoplasm|endometrial tumor|endometrial neoplasm|neoplasm of the endometrium|tumor of endometrium	http://purl.obolibrary.org/obo/MONDO_0021251	A neoplasm (disease) that involves the endometrium.	NCIT:C3012|MESH:D016889|SNOMEDCT:123844007
MONDO:0021250	tonsil neoplasm	biolink:Disease	mondo	NCIT:C3417|SCTID:127227003		neoplasm of tonsil|tonsil neoplasm (disease)|tonsil tumor|tumor of the tonsil|tonsillar tumor|tonsillar neoplasms|tumor of tonsil|neoplasm of the tonsil|tonsillar neoplasm	http://purl.obolibrary.org/obo/MONDO_0021250	A neoplasm (disease) that involves the tonsil.	NCIT:C3417|SNOMEDCT:127227003
FOODON:00001907	gluten refined food product	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00001907		
MONDO:0021259	prostate neoplasm	biolink:Disease	mondo	NCIT:C3343|ONCOTREE:PROSTATE|ICD9:600.1|DOID:13206|ICD10:N40		prostate nodule|prostate gland neoplasm|tumor of prostate gland|neoplasm of prostate|prostate tumor|neoplasm of the prostate|prostate gland neoplasm (disease)|neoplasm of prostate gland|prostate gland tumor|tumor of prostate|nodular prostate|tumor of the prostate	http://purl.obolibrary.org/obo/MONDO_0021259	A neoplasm (disease) that involves the prostate gland.	DOID:13206|NCIT:C3343
HP:0002814	Abnormality of the lower limb	biolink:PhenotypicFeature	mondo	UMLS:C1096086|SNOMEDCT_US:449715001	hposlim_core	Abnormality of the lower limb|Abnormality of the leg|Lower limb deformities	http://purl.obolibrary.org/obo/HP_0002814	An abnormality of the leg.	
MONDO:0021258	choroid neoplasm	biolink:Disease	mondo	NCIT:C2949		optic choroid neoplasm (disease)|neoplasm of optic choroid|neoplasm of the choroid|optic choroid tumor|neoplasm of choroid|choroid tumor|tumor of optic choroid|choroidal tumor|tumor of the choroid|optic choroid neoplasm|tumor of choroid|choroidal neoplasm	http://purl.obolibrary.org/obo/MONDO_0021258	A neoplasm (disease) that involves the optic choroid.	NCIT:C2949
HP:0002815	Abnormality of the knee	biolink:PhenotypicFeature	mondo	UMLS:C4025676	hposlim_core	Abnormality of the knee	http://purl.obolibrary.org/obo/HP_0002815	An abnormality of the knee joint or surrounding structures.	
MONDO:0021257	glomus jugulare neoplasm	biolink:Disease	mondo			jugular body neoplasm (disease)|neoplasm of jugular body|jugular body tumor|jugular body neoplasm|tumor of jugular body	http://purl.obolibrary.org/obo/MONDO_0021257	A neoplasm (disease) that involves the jugular body.	
MONDO:0008279	obsolete familial adenomatous polyposis type 1	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0008279		
HP:0002812	Coxa vara	biolink:PhenotypicFeature	mondo	UMLS:C0239138|MSH:D060905|SNOMEDCT_US:74820003			http://purl.obolibrary.org/obo/HP_0002812	Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.	
HGNC:12649	VAPB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12649		
MONDO:0021256		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021256		
HP:0002813	Abnormality of limb bone morphology	biolink:PhenotypicFeature	mondo	UMLS:C4082761		Abnormal shape of limb bone|Arm and/or leg bone differences|Limb abnormality	http://purl.obolibrary.org/obo/HP_0002813	Any abnormality of bones of the arms or legs.	
MONDO:0021255		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021255		
MONDO:0008277	stomach polyp	biolink:Disease	mondo	MESH:C562464|SCTID:87252009|NCIT:C3954|COHD:4303233		polyps of the stomach|polyps of stomach|gastric polyposis|gastric Polyposa|gastric polyp	http://purl.obolibrary.org/obo/MONDO_0008277	A polyp that arises from the stomach. This category includes neoplastic polyps (intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps), and non-neoplastic polyps (hyperplastic polyps and hamartomatous polyps).	SNOMEDCT:87252009|NCIT:C3954|MESH:C562464
MONDO:0021254	corpus uteri neoplasm	biolink:Disease	mondo	NCIT:C6300|SCTID:126909004|UMLS:C1263777		neoplasm of uterine corpus|neoplasm of the corpus uteri|corpus uteri tumor|neoplasm of the body of uterus|uterine corpus neoplasm|uterine corpus tumor|tumor of body of uterus|neoplasm of the uterine corpus|body of uterus neoplasm (disease)|neoplasm of body of uterus|neoplasm of uterine body|tumor of corpus uteri|uterine body tumor|neoplasm of the uterine body|tumor of the corpus uteri|tumor of uterine corpus|tumor of the uterine corpus|body of uterus tumor|uterine body neoplasm|tumor of uterine body|body of uterus neoplasm|neoplasm of corpus uteri|tumor of the uterine body	http://purl.obolibrary.org/obo/MONDO_0021254	A neoplasm (disease) that involves the body of uterus.	NCIT:C6300|UMLS:C1263777|SNOMEDCT:126909004
MONDO:0008278	juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	biolink:Disease	mondo	MESH:C563412|OMIM:175050|UMLS:C1832942|DOID:0111543		JPHT|polyposis, generalized juvenile, with pulmonary arteriovenous malformation|juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|juvenile polyposis with hereditary hemorrhagic telangiectasia|JP/Hht syndrome|juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; JPHT|jPS/Hht|telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli	http://purl.obolibrary.org/obo/MONDO_0008278		UMLS:C1832942|DOID:0111543|http://identifiers.org/omim/175050|MESH:C563412
MONDO:0008275	familial expansile osteolysis	biolink:Disease	mondo	Orphanet:85195|ICD9:756.9|GARD:0009168|MESH:C536335|ICD10:M89.5|OMIM:174810|SCTID:254153009|DOID:0111542	ordo_disease	osteolysis, familial expansile|FEO|Mccabe disease|EOF|expansile osteolysis, familial|hereditary expansile polyostotic osteolytic dysplasia|polyostotic osteolytic dysplasia, hereditary expansile|familial expansile osteolysis; FEO|familial expansile osteolysis|HEPOD|McCabe disease	http://purl.obolibrary.org/obo/MONDO_0008275		http://identifiers.org/omim/174810|ORPHA:85195|SNOMEDCT:254153009|MESH:C536335|DOID:0111542|UMLS:C0432292
MONDO:0021253	gallbladder neoplasm	biolink:Disease	mondo	UMLS:C0016978|NCIT:C3048		neoplasm of gall bladder|gall bladder tumor|tumor of the gallbladder|tumor of gallbladder|gall bladder neoplasm|tumor of gall bladder|neoplasm of the gallbladder|gall bladder neoplasm (disease)|neoplasm of gallbladder|gallbladder tumor	http://purl.obolibrary.org/obo/MONDO_0021253	A neoplasm (disease) that involves the gall bladder.	NCIT:C3048|UMLS:C0016978
MONDO:0008276	generalized juvenile polyposis/juvenile polyposis coli	biolink:Disease	mondo	OMIM:174900|Orphanet:329971|DOID:0050787|ICD10:D12.6|UMLS:CN204230	clingen|ordo_clinical_subtype	juvenile polyposis syndrome|juvenile intestinal polyposis|juvenile polyposis coli|jPS|juvenile polyposis syndrome; jPS|polyposis, juvenile intestinal|polyposis, familial, of Entire gastrointestinal tract|juvenile polyposis of stomach	http://purl.obolibrary.org/obo/MONDO_0008276		http://identifiers.org/omim/174900|ORPHA:329971|DOID:0050787|UMLS:CN204230
HP:0002817	Abnormality of the upper limb	biolink:PhenotypicFeature	mondo	UMLS:C4020900		Abnormality of the arm|Abnormality of the upper limb	http://purl.obolibrary.org/obo/HP_0002817	An abnormality of the arm.	
MONDO:0021252	obsolete lung hilum neoplasm	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021252		
MONDO:0008273	actinic prurigo	biolink:Disease	mondo	SCTID:201015007|ICD10:L56.4|COHD:141374|UMLS:C0406217|OMIM:174770|Orphanet:330061	ordo_disease	Hutchinson summer prurigo|polymorphic Light eruption, hereditary|hydroa aestivale|familial polymorphous light eruption of American Indians|actinic prurigo|hereditary polymorphous light eruption of American Indians|juvenile Spring eruption of ears	http://purl.obolibrary.org/obo/MONDO_0008273		UMLS:C0406217|ORPHA:330061|SNOMEDCT:201015007|http://identifiers.org/omim/174770
MONDO:0008274	polyostotic fibrous dysplasia	biolink:Disease	mondo	SCTID:36517007|ICD9:756.54|Orphanet:93276|ICD10:Q78.1|MedDRA:10036120|NCIT:C34610|MESH:D005359	ordo_clinical_subtype	polyostotic fibrous dysplasia of bone|fibrous dysplasia of bone	http://purl.obolibrary.org/obo/MONDO_0008274	Fibrous dysplasia affecting more than one bone. When it is associated with café-au-lait skin pigmentation and endocrine disorders, it is known as McCune-Albright syndrome.	SNOMEDCT:36517007|MEDDRA:10036120|NCIT:C34610|MESH:D005359|ORPHA:93276
MONDO:0008271	polydactyly of an index finger	biolink:Disease	mondo	Orphanet:93337|ICD10:Q69.0|UMLS:C1868113|MESH:C566784|OMIM:174600|GARD:0002256|SCTID:723446006	ordo_morphological_anomaly	PPD3|polydactyly, preaxial III|index finger polydactyly|preaxial polydactyly type 3|polydactyly, preaxial 3|polydactyly, preaxial type 3	http://purl.obolibrary.org/obo/MONDO_0008271	Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral. There have been no further descriptions in the literature since 1962.	UMLS:C1868113|MESH:C566784|SNOMEDCT:723446006|ORPHA:93337|http://identifiers.org/omim/174600
MONDO:0008272	polysyndactyly 4	biolink:Disease	mondo	ICD10:Q70.4|Orphanet:93338|MedDRA:10063143|NCIT:C125597|OMIM:174700|UMLS:C1868111|UMLS:C0265553|SCTID:84598000|ICD9:755.10|GARD:0009903|COHD:79126|GARD:0001616	gard_rare|ordo_morphological_anomaly	PPD4|polysyndactyly uncomplicated|preaxial polydactyly 4|crossed polydactyly type 1|preaxial polydactyly type 4|polydactyly, preaxial IV|polysyndactyly, uncomplicated|polydactyly preaxial 4|polydactyly, preaxial 4|polydactyly, preaxial type 4|crossed polydactyly, type 1	http://purl.obolibrary.org/obo/MONDO_0008272	Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present.	UMLS:C1868111|MEDDRA:10063143|UMLS:C0265553|SNOMEDCT:84598000|NCIT:C125597|ORPHA:93338|http://identifiers.org/omim/174700
MONDO:0008270	polydactyly of a triphalangeal thumb	biolink:Disease	mondo	Orphanet:93336|UMLS:C1868114|GARD:0005289|OMIM:174500|SCTID:715710001|ICD10:Q69.1	ordo_morphological_anomaly	polydactyly of triphalangeal thumb|triphalangeal thumb-polysyndactyly syndrome|preaxial polydactyly type 2|triphalangeal thumb with polysyndactyly|polydactyly, preaxial II|polydactyly, preaxial 2|polydactyly, preaxial type 2|triphalangeal thumb|polydactyly, preaxial II; PPD2|PPD2|TPT-PS syndrome|triphalangeal thumb-polydactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0008270	Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia.	UMLS:C1868114|SNOMEDCT:715710001|ORPHA:93336|http://identifiers.org/omim/174500
MONDO:0021249	lip neoplasm	biolink:Disease	mondo	SCTID:126770008|NCIT:C3191		lip neoplasms|tumor of the Lip|lip tumor|tumor of Lip|tumor of lip|lip neoplasm (disease)|neoplasm of the Lip|neoplasm of Lip|neoplasm of lip	http://purl.obolibrary.org/obo/MONDO_0021249	A neoplasm (disease) that involves the lip.	SNOMEDCT:126770008|NCIT:C3191
FOODON:00001911	goat dairy food product	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00001911		
MONDO:0021240	tongue neoplasm	biolink:Disease	mondo	SCTID:126778001|EFO:0003871|NCIT:C3416		neoplasm of tongue|tongue tumor|tumor of the tongue|tongue neoplasm (disease)|tumor of tongue|neoplasm of the tongue	http://purl.obolibrary.org/obo/MONDO_0021240	A neoplasm (disease) that involves the tongue.	SNOMEDCT:126778001|NCIT:C3416
MONDO:0021248	nervous system neoplasm	biolink:Disease	mondo	NCIT:C3268|COHD:444200		neoplasm of the nervous system|nervous system neoplasm (disease)|nervous system neoplasms|neoplasm of nervous system|nervous system tumor|tumor of the nervous system|nervous system tumour|tumor of nervous system	http://purl.obolibrary.org/obo/MONDO_0021248	A neoplasm (disease) that involves the nervous system.	NCIT:C3268
MONDO:0021247	obsolete renal pelvis neoplasm	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021247		
MONDO:0021246	pharynx neoplasm	biolink:Disease	mondo	NCIT:C3325		tumor of pharynx|neoplasm of the pharynx|pharyngeal tumor|neoplasm of pharynx|pharyngeal neoplasms|tumor of the pharynx|pharynx tumor|pharynx neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0021246	A neoplasm (disease) that involves the pharynx.	NCIT:C3325
HP:0002823	Abnormality of femur morphology	biolink:PhenotypicFeature	mondo	UMLS:C4021750		Abnormality of the thighbone|Abnormality of the femora	http://purl.obolibrary.org/obo/HP_0002823	Any anomaly of the structure of the femur.	
MONDO:0021245	oral cavity neoplasm	biolink:Disease	mondo	UMLS:C0026640|SCTID:235075007|NCIT:C7606|EFO:0003868		tumor of oral cavity|tumor of mouth|mouth tumor|neoplasm of oral cavity|oral cavity neoplasm (disease)|oral cavity tumor|mouth neoplasm	http://purl.obolibrary.org/obo/MONDO_0021245	A neoplasm (disease) that involves the oral cavity.	UMLS:C0026640|NCIT:C7606|SNOMEDCT:235075007
MONDO:0021244	submandibular gland neoplasm	biolink:Disease	mondo	UMLS:C0038558|MESH:D013365|SCTID:254464000|NCIT:C3393|EFO:1001853		neoplasm of the submandibular gland|tumor of submandibular gland|tumor of the submandibular gland|neoplasm of submandibular gland|submandibular gland tumor|submandibular gland neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0021244	A neoplasm (disease) that involves the submandibular gland.	MESH:D013365|UMLS:C0038558|SNOMEDCT:254464000|NCIT:C3393
MONDO:0008288	popliteal cyst	biolink:Disease	mondo	OMIM:175750|SCTID:82675004|MESH:D011151|ICD9:727.51		popliteal cyst|baker cyst	http://purl.obolibrary.org/obo/MONDO_0008288	A synovial cyst located in the back of the knee, in the popliteal space arising from the semimembranous bursa or the knee joint.	MESH:D011151|SNOMEDCT:82675004|http://identifiers.org/omim/175750
HP:0002829	Arthralgia	biolink:PhenotypicFeature	mondo	UMLS:C0003862|MSH:D018771|SNOMEDCT_US:57676002		Arthralgias|Joint pain|Joint pains|Arthritic pain	http://purl.obolibrary.org/obo/HP_0002829	Joint pain.	
MONDO:0021243	parotid gland neoplasm	biolink:Disease	mondo	EFO:0003873|SCTID:126788000|NCIT:C3314		tumor of the parotid gland|neoplasm of parotid gland|parotid gland tumor|tumor of the parotid|tumor of parotid|parotid gland neoplasm (disease)|parotid neoplasm|neoplasm of the parotid gland|tumor of parotid gland|neoplasm of the parotid|neoplasm of parotid|parotid tumor	http://purl.obolibrary.org/obo/MONDO_0021243	A neoplasm (disease) that involves the parotid gland.	SNOMEDCT:126788000|NCIT:C3314
MONDO:0008289	brain small vessel disease 1 with or without ocular anomalies	biolink:Disease	mondo	DOID:0090125|Orphanet:36383|OMIM:175780|MESH:C564372|OMIM:607595|ICD10:I67.3|MESH:C531642|UMLS:CN032791	ordo_disease	T1P|BSVD1|porencephaly caused by mutation in COL4A1|infantile hemiparesis|autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy|porencephaly, type 1, autosomal dominant|ADT1P|brain small vessel disease with hemorrhage|COL4A1 porencephaly|porencephaly type 1|BSVD|COL4A1-related familial vascular leukoencephalopathy|COL4A1-related brain small vessel disease with hemorrhage|hemiplegia, infantile, with porencephaly|leukoencephalopathy with axenfeld-rieger anomaly|POREN1|brain small vessel disease with Axenfeld-Riegar anomaly|brain small vessel disease with or without ocular anomalies; BSVD|porencephaly 1|porencephaly 1; POREN1|brain small vessel disease with or without ocular anomalies|retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant|COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome|brain small vessel disease with axenfeld-rieger anomaly|hemiplegia, infantile, with porencephaly porencephaly, type 1	http://purl.obolibrary.org/obo/MONDO_0008289	Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene.	MESH:C531642|UMLS:C2930808|UMLS:CN032791|http://identifiers.org/omim/607595|DOID:0090125|MESH:C564372|ORPHA:36383|http://identifiers.org/omim/175780
MONDO:0008286	crossed polysyndactyly	biolink:Disease	mondo	Orphanet:2935|MESH:C566773|UMLS:C1867999|ICD10:Q70.4|GARD:0001617|OMIM:175690	ordo_malformation_syndrome|gard_rare	crossed polydactyly|polysyndactyly, crossed	http://purl.obolibrary.org/obo/MONDO_0008286	Crossed polysyndactyly is a rare, genetic, congenital limb malformation disorder characterized by unilateral or bilateral postaxial polydactyly in the hands and preaxial polydactyly in the feet, associated with bilateral cutaneous syndactyly of first, second and third toes. Cutaneous syndactyly in hands has also been reported in some patients. There have been no further descriptions in the literature since 1994.	ORPHA:2935|MESH:C566773|UMLS:C1867999|http://identifiers.org/omim/175690
MONDO:0021242	sublingual gland neoplasm	biolink:Disease	mondo	EFO:1001430|UMLS:C0038554|MESH:D013362|NCIT:C3392|SCTID:126790004		tumor of sublingual gland|neoplasm of the sublingual gland|neoplasm of sublingual gland|sublingual gland neoplasm (disease)|sublingual gland tumor|tumor of the sublingual gland	http://purl.obolibrary.org/obo/MONDO_0021242	A neoplasm (disease) that involves the sublingual gland.	UMLS:C0038554|SNOMEDCT:126790004|NCIT:C3392|MESH:D013362
CL:0000936	early lymphoid progenitor	biolink:Cell	mondo			ELP|GMLP|lymphoid-primed multipotent progenitor|LMPP	http://purl.obolibrary.org/obo/CL_0000936	A lymphoid progenitor cell that is found in bone marrow, gives rise to B cells, T cells, natural killer cells and dendritic cells, and has the phenotype Lin-negative, Kit-positive, Sca-1-positive, FLT3-positive, CD34-positive, CD150 negative, and GlyA-negative.	
MONDO:0008287	Greig cephalopolysyndactyly syndrome	biolink:Disease	mondo	OMIM:175700|MESH:C537300|DOID:14761|Orphanet:380|UMLS:C0265306|ICD10:Q87.0|MedDRA:10053878|NCIT:C35255|SCTID:32985001|GARD:0006550	gard_rare|ordo_malformation_syndrome	GCPS|Greig cephalopolysyndactyly syndrome; GCPS|Greig cephalopolysyndactyly syndrome|polysyndactyly with peculiars skull shape|Greig cephalosyndactyly syndrome|Greig syndrome|Greig's syndrome|polysyndactyly with peculiar skull Shape	http://purl.obolibrary.org/obo/MONDO_0008287	Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.	NCIT:C35255|MESH:C537300|MEDDRA:10053878|UMLS:C0265306|ORPHA:380|DOID:14761|SNOMEDCT:32985001|http://identifiers.org/omim/175700
MONDO:0021241	buccal mucosa neoplasm	biolink:Disease	mondo	SCTID:126802007|NCIT:C4405|UMLS:C0345563		neoplasm of buccal mucosa|tumor of the buccal mucosa|buccal mucosa tumor|buccal mucosa neoplasm (disease)|neoplasm of the buccal mucosa|tumor of buccal mucosa	http://purl.obolibrary.org/obo/MONDO_0021241	A neoplasm (disease) that involves the buccal mucosa.	SNOMEDCT:126802007|NCIT:C4405|UMLS:C0345563
CL:0000937	pre-natural killer cell	biolink:Cell	mondo			pre-NK cell	http://purl.obolibrary.org/obo/CL_0000937	Cell committed to natural killer cell lineage that has the phenotype CD122-positive, CD34-positive, and CD117-positive. This cell type lacks expression of natural killer receptor proteins.	
MONDO:0008284	polyposis of gastric fundus without polyposis coli	biolink:Disease	mondo	UMLS:C1868001|MESH:C566775|OMIM:175505		polyposis of gastric fundus without polyposis coli|fundic gland polyposis	http://purl.obolibrary.org/obo/MONDO_0008284		UMLS:C1868001|MESH:C566775|http://identifiers.org/omim/175505
HGNC:12666	VCP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12666		
HGNC:10004	RGS9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10004		
MONDO:0008285	polyps, multiple and recurrent inflammatory fibroid, gastrointestinal	biolink:Disease	mondo	MESH:C566774|UMLS:C1868000|OMIM:175510		polyps, multiple and recurrent inflammatory fibroid, gastrointestinal	http://purl.obolibrary.org/obo/MONDO_0008285		UMLS:C1868000|MESH:C566774|http://identifiers.org/omim/175510
HGNC:12665	VCL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12665		
MONDO:0008282	polyposis, intestinal, with multiple exostoses	biolink:Disease	mondo	OMIM:175450|UMLS:C1868005|MESH:C566776		polyposis, intestinal, with multiple exostoses	http://purl.obolibrary.org/obo/MONDO_0008282		UMLS:C1868005|MESH:C566776|http://identifiers.org/omim/175450
HGNC:10001	RGS5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10001		
MONDO:0008283	Cronkhite-Canada syndrome	biolink:Disease	mondo	Orphanet:2930|GARD:0004427|OMIM:175500|MESH:D044483|NCIT:C7035|SCTID:76304001|ICD10:D12.6|DOID:6225|UMLS:C0282207|MedDRA:10062907	ordo_disease|gard_rare	gastric Cronkhite Canada polyposis|Cronkhite-Canada disease|gastrointestinal polyposis-ectodermal changes syndrome|gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome|polyposis, skin pigmentation, alopecia, and fingernail changes|Cronkhite-Canada syndrome|polyposis skin pigmentation alopecia fingernail changes	http://purl.obolibrary.org/obo/MONDO_0008283	Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.	UMLS:C0282207|ORPHA:2930|SNOMEDCT:76304001|NCIT:C7035|MEDDRA:10062907|http://identifiers.org/omim/175500|MESH:D044483|DOID:6225
MONDO:0008280	Peutz-Jeghers syndrome	biolink:Disease	mondo	UMLS:C0031269|DOID:3852|OMIM:175200|NCIT:C3324|Orphanet:2869|GARD:0007378|MESH:D010580|MedDRA:10034764|SCTID:54411001|UMLS:C1333088|ICD10:Q85.8|ICD9:759.6	ordo_disease|gard_rare|clingen	hamartomatous intestinal polyposis|polyposis, hamartomatous intestinal|polyps and spots syndrome|Peutz Jeghers polyposis|PJS|Peutz Jeghers colon polyp|periorificial lentiginosis syndrome|lentiginosis, perioral|Peutz-Jeghers small bowel hamartoma|colonic hamartomatous polyp|Peutz Jeghers polyp|Peutz-Jeghers syndrome; PJS|Peutz-Jeghers polyp of small intestine|Peutz-Jeghers syndrome|Peutz's syndrome|polyps-and-Spots syndrome|Jeghers-Peutz syndrome|gastric Peutz-Jeghers polyp	http://purl.obolibrary.org/obo/MONDO_0008280	Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies.	ORPHA:2869|MEDDRA:10034764|DOID:3852|MESH:D010580|http://identifiers.org/omim/175200|SNOMEDCT:54411001|NCIT:C3324|UMLS:C1333088|UMLS:C0031269
MONDO:0008281	polyposis, intestinal, scattered and discrete	biolink:Disease	mondo	UMLS:C1868006|OMIM:175400		polyps, scattered, discrete intestinal|polyposis, intestinal, scattered and discrete	http://purl.obolibrary.org/obo/MONDO_0008281		UMLS:C1868006|http://identifiers.org/omim/175400
MONDO:0021239	urethra neoplasm	biolink:Disease	mondo	EFO:0003846|NCIT:C3428		tumor of the urethra|neoplasm of urethra|urethra neoplasm (disease)|urethra tumor|urethral tumors|urethral tumor|urethral neoplasms|neoplasms. urethra|tumor of urethra|neoplasm of the urethra|urethra tumors|urethra neoplasms|urethral neoplasm|tumors. urethra	http://purl.obolibrary.org/obo/MONDO_0021239	A neoplasm (disease) that involves the urethra.	NCIT:C3428
HGNC:12668	VCY	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12668		
HGNC:10006	RHAG	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10006		
MONDO:0021238	cornea neoplasm	biolink:Disease	mondo	UMLS:C0339304|NCIT:C4361		corneal tumor|tumor of cornea|neoplasm of the cornea|corneal neoplasm|cornea neoplasm (disease)|neoplasm of cornea|cornea tumor|tumor of the cornea	http://purl.obolibrary.org/obo/MONDO_0021238	A neoplasm (disease) that involves the cornea.	UMLS:C0339304|NCIT:C4361
MONDO:0033259	deafness, autosomal dominant 72	biolink:Disease	mondo	OMIM:617606|DOID:0080268		DFNA72|autosomal dominant nonsyndromic deafness 72|deafness, autosomal dominant 72; DFNA72	http://purl.obolibrary.org/obo/MONDO_0033259		http://identifiers.org/omim/617606|DOID:0080268
MONDO:0033258	deafness, autosomal dominant 71	biolink:Disease	mondo	OMIM:617605|DOID:0080267		deafness, autosomal dominant 71; DFNA71|DFNA71|autosomal dominant nonsyndromic deafness 71	http://purl.obolibrary.org/obo/MONDO_0033258		http://identifiers.org/omim/617605|DOID:0080267
HGNC:12660	VAX1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12660		
CL:0000906	activated CD8-positive, alpha-beta T cell	biolink:Cell	mondo			activated CD8-positive, alpha-beta T-cell|activated CD8-positive, alpha-beta T lymphocyte|activated CD8-positive, alpha-beta T-lymphocyte	http://purl.obolibrary.org/obo/CL_0000906	A CD8-positive, alpha-beta T cell with the phenotype CD69-positive, CD62L-negative, CD127-negative, CD25-positive, and CCR7-negative.	
CL:0000908	CD8-positive, alpha-beta cytokine secreting effector T cell	biolink:Cell	mondo			CD8-positive, alpha-beta cytokine secreting effector T-cell|CD8-positive, alpha-beta cytokine secreting effector T lymphocyte|CD8-positive, alpha-beta cytokine secreting effector T-lymphocyte	http://purl.obolibrary.org/obo/CL_0000908	A CD8-positive, alpha-beta T cell with the phenotype CD69-positive, CD62L-negative, CD127-negative, and CD25-positive, that secretes cytokines.	
MONDO:0008259	familial spontaneous pneumothorax	biolink:Disease	mondo	OMIM:173600|DOID:0080218|Orphanet:2903|UMLS:C4275252|ICD10:J93.1|SCTID:715219001|UMLS:C1868193|GARD:0004997|MESH:C566795	ordo_disease	spontaneous pneumothorax|Psp|pneumothorax, primary spontaneous|primary spontaneous pneumothorax	http://purl.obolibrary.org/obo/MONDO_0008259	Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated.	SNOMEDCT:715219001|UMLS:C4275252|http://identifiers.org/omim/173600|DOID:0080218|ORPHA:2903|UMLS:C1868193|MESH:C566795
MONDO:0021237	adrenal medulla neoplasm	biolink:Disease	mondo	UMLS:C0596046|NCIT:C4856		adrenal medulla neoplasm (disease)|tumor of adrenal medulla|neoplasm of adrenal medulla|adrenal medulla tumor	http://purl.obolibrary.org/obo/MONDO_0021237	A neoplasm (disease) that involves the adrenal medulla.	NCIT:C4856|UMLS:C0596046
MONDO:0021236		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021236		
MONDO:0021235	external ear neoplasm	biolink:Disease	mondo	UMLS:C0349575|NCIT:C4652|SCTID:277155005		neoplasm of external ear|tumor of external Ear|tumor of the external Ear|external ear tumor|external ear neoplasm (disease)|tumor of external ear|neoplasm of external Ear|external Ear tumor|neoplasm of the external Ear	http://purl.obolibrary.org/obo/MONDO_0021235	A neoplasm (disease) that involves the external ear.	UMLS:C0349575|SNOMEDCT:277155005|NCIT:C4652
MONDO:0008257	platelet responsiveness to adrenaline, depressed	biolink:Disease	mondo	OMIM:173580		platelet responsiveness to adrenaline, depressed	http://purl.obolibrary.org/obo/MONDO_0008257		http://identifiers.org/omim/173580
CL:0000900	naive thymus-derived CD8-positive, alpha-beta T cell	biolink:Cell	mondo			naive thymus-dervied CD8-positive, alpha-beta T-cell|naive thymus-dervied CD8-positive, alpha-beta T lymphocyte|naive CD8+ T cell|naive thymus-dervied CD8-positive, alpha-beta T-lymphocyte|T.8Nve.Sp	http://purl.obolibrary.org/obo/CL_0000900	A CD8-positive, alpha-beta T cell that has not experienced activation via antigen contact and has the phenotype CD45RA-positive, CCR7-positive and CD127-positive. This cell type is also described as being CD25-negative, CD62L-high and CD44-low.	
MONDO:0021234	spinal cord neoplasm	biolink:Disease	mondo	UMLS:C0037930|NCIT:C3381		neoplasm of the spinal cord|tumor of spinal cord|spinal cord neoplasm (disease)|neoplasm of spinal cord|tumor of the spinal cord|spinal cord tumor	http://purl.obolibrary.org/obo/MONDO_0021234	A neoplasm (disease) that involves the spinal cord.	UMLS:C0037930|NCIT:C3381
MONDO:0008258	platelet signal processing defect	biolink:Disease	mondo	OMIM:173590|MESH:C566796|UMLS:C1868199		platelet signal processing defect	http://purl.obolibrary.org/obo/MONDO_0008258		http://identifiers.org/omim/173590|UMLS:C1868199|MESH:C566796
MONDO:0021233	ear neoplasm	biolink:Disease	mondo	NCIT:C3000		neoplasm of the Ear|neoplasm of Ear|Ear tumor|tumor of ear|Ear neoplasms|tumor of the Ear|tumor of Ear|ear neoplasm (disease)|neoplasm of ear|ear tumor	http://purl.obolibrary.org/obo/MONDO_0021233	A neoplasm (disease) that involves the ear.	NCIT:C3000
MONDO:0008255	platelet factor 3 deficiency	biolink:Disease	mondo	OMIM:173450|MESH:C566798|UMLS:C1868256		platelet factor 3 deficiency	http://purl.obolibrary.org/obo/MONDO_0008255		http://identifiers.org/omim/173450|UMLS:C1868256|MESH:C566798
MONDO:0021232	pineal body neoplasm	biolink:Disease	mondo	ONCOTREE:PINT|NCIT:C3328		pineal body tumor|tumor of pineal body|pineal region neoplasm|pineal neoplasm|tumor of the pineal area|tumor of pineal area|neoplasm of the pineal region|pineal tumor|neoplasm of pineal region|pineal region tumor|pinealoma|pineal body neoplasm (disease)|neoplasm of pineal body|pineal area neoplasm|neoplasm of the pineal area|tumor of the pineal region|neoplasm of pineal area|pineal area tumor|tumor of pineal region	http://purl.obolibrary.org/obo/MONDO_0021232	A neoplasm (disease) that involves the pineal body.	NCIT:C3328
MONDO:0008256	platelet membrane fluidity	biolink:Disease	mondo	OMIM:173560		platelet membrane fluidity|PMF|platelet membrane fluidity; PMF	http://purl.obolibrary.org/obo/MONDO_0008256		http://identifiers.org/omim/173560
MONDO:0008253	platelet aggregation, spontaneous	biolink:Disease	mondo	OMIM:173400|UMLS:C1868263|MESH:C566800		platelet aggregation, spontaneous	http://purl.obolibrary.org/obo/MONDO_0008253		http://identifiers.org/omim/173400|UMLS:C1868263|MESH:C566800
MONDO:0021231	retina neoplasm	biolink:Disease	mondo	EFO:1000509|NCIT:C4800		tumor of retina|neoplasm of the retina|neoplasm of retina|retinal neoplasm|retina tumor|tumor of the retina|retina neoplasm (disease)|retinal tumor	http://purl.obolibrary.org/obo/MONDO_0021231	A neoplasm (disease) that involves the retina.	NCIT:C4800
MONDO:0021230	uterine cervix neoplasm	biolink:Disease	mondo	ONCOTREE:CERVIX|NCIT:C2940		Cervical neoplasm|tumor of the cervix|neoplasm of uterine cervix|cervical tumor|tumor of cervix uteri|uterine cervix tumor|uterine cervix neoplasm (disease)|tumor of the cervix uteri|tumor of the uterine cervix|Cervical neoplasm|cervix|cervix uteri neoplasm|neoplasm of cervix|cervix tumor|neoplasm of the cervix|tumor of uterine cervix|neoplasm of cervix uteri|cervix neoplasm|cervix uteri tumor|neoplasm of the cervix uteri|neoplasm of the uterine cervix|tumor of cervix	http://purl.obolibrary.org/obo/MONDO_0021230	A neoplasm (disease) that involves the uterine cervix.	NCIT:C2940
MONDO:0008254	platelet disorder, undefined	biolink:Disease	mondo	OMIM:173420|MESH:C566799|UMLS:C1868258		platelet disorder, undefined	http://purl.obolibrary.org/obo/MONDO_0008254		http://identifiers.org/omim/173420|UMLS:C1868258|MESH:C566799
MONDO:0008251	pityriasis rubra pilaris	biolink:Disease	mondo	DOID:9212|MedDRA:10035116|UMLS:C0032027|OMIM:173200|ICD9:696.4|NCIT:C85014|ICD10:L44.0|Orphanet:2897|MESH:D010916|COHD:136774|GARD:0007401|SCTID:3755001	gard_rare|ordo_disease	PrP|Devergie's disease|PITYRIASIS rubra pilaris; PrP|pityriasis rubra pilaris	http://purl.obolibrary.org/obo/MONDO_0008251	Pityriasis rubra pilaris is a rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists.	UMLS:C0032027|http://identifiers.org/omim/173200|MEDDRA:10035116|SNOMEDCT:3755001|ORPHA:2897|NCIT:C85014|DOID:9212|MESH:D010916
MONDO:0033262	nephrotic syndrome 15	biolink:Disease	mondo	DOID:0080271|OMIM:617609|UMLS:CN388854		nephrotic syndrome, type 15|NPHS15|nephrotic syndrome 15; NPHS15	http://purl.obolibrary.org/obo/MONDO_0033262		http://identifiers.org/omim/617609|DOID:0080271|UMLS:CN388854
HGNC:12633	USP9Y	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12633		
MONDO:0008252	platelet adenylate cyclase activity	biolink:Disease	mondo	OMIM:173395		platelet adenylate cyclase activity	http://purl.obolibrary.org/obo/MONDO_0008252		http://identifiers.org/omim/173395
HGNC:12632	USP9X	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12632		
MONDO:0033260	deafness, autosomal dominant 73	biolink:Disease	mondo	DOID:0080269|OMIM:617663|UMLS:CN461628		DFNA73|autosomal dominant nonsyndromic deafness 73|deafness, autosomal dominant 73; DFNA73	http://purl.obolibrary.org/obo/MONDO_0033260		UMLS:CN461628|DOID:0080269|http://identifiers.org/omim/617663
HGNC:12631	USP8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12631		
MONDO:0008250	isolated growth hormone deficiency type II	biolink:Disease	mondo	ICD10:E23.0|SCTID:237687003|DOID:0060872|OMIM:173100|GARD:0001696|UMLS:C0271567|Orphanet:231679|MESH:C562704	gard_rare|ordo_clinical_subtype	isolated Growth hormone deficiency, type 2|autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency|congenital isolated GH deficiency type II|isolated growth hormone deficiency, type II|pituitary dwarfism due to isolated Growth hormone deficiency, autosomal dominant|IGHD2|Growth hormone deficiency, isolated, autosomal dominant|IGHD II|Growth hormone deficiency, isolated autosomal dominant|autosomal dominant isolated growth hormone deficiency|congenital IGHD type II|pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant|isolated growth hormone deficiency type 2|congenital isolated growth hormone deficiency type II|IGHD 2|isolated growth hormone deficiency, type II; IGHD2	http://purl.obolibrary.org/obo/MONDO_0008250		MESH:C562704|http://identifiers.org/omim/173100|UMLS:C0271567|ORPHA:231679|SNOMEDCT:237687003|DOID:0060872
MONDO:0033261	deafness, autosomal dominant 34, with or without inflammation	biolink:Disease	mondo	UMLS:CN653906|DOID:0080270|OMIM:617772		DFNA34|deafness, autosomal dominant 34, with or without inflammation; DFNA34|autosomal dominant nonsyndromic deafness 34	http://purl.obolibrary.org/obo/MONDO_0033261		http://identifiers.org/omim/617772|UMLS:CN653906|DOID:0080270
CHEBI:17602	4-aminophenol	biolink:ChemicalSubstance	mondo			4-AMINOPHENOL|4-Hydroxyaniline|4-aminophenol|4-Aminophenol|p-Aminophenol|p-hydroxyaniline|4-Aminobenzenol	http://purl.obolibrary.org/obo/CHEBI_17602	An amino phenol (one of the three possible isomers) which has the single amino substituent located para to the phenolic -OH group.	
HGNC:12637	KDM6A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12637		
MONDO:0021229	ciliary body neoplasm	biolink:Disease	mondo	NCIT:C4364|UMLS:C0339349		neoplasm of the ciliary body|ciliary body neoplasm (disease)|neoplasm of ciliary body|ciliary body tumor|tumor of the ciliary body|tumor of ciliary body	http://purl.obolibrary.org/obo/MONDO_0021229	A neoplasm (disease) that involves the ciliary body.	NCIT:C4364|UMLS:C0339349
MONDO:0021228	brainstem neoplasm	biolink:Disease	mondo	Orphanet:36414|NCIT:C4869		Brain stem neoplasm|neoplasm of brain stem|brain stem tumor|neoplasm of the brain stem|tumor of brainstem|neoplasm of the brainstem|brainstem neoplasm (disease)|Brain stem neoplasm|tumor of brain stem|tumor of the brain stem|neoplasm of brainstem|tumor of the brainstem|brainstem tumor	http://purl.obolibrary.org/obo/MONDO_0021228	A neoplasm (disease) that involves the brainstem.	NCIT:C4869|ORPHA:36414
MONDO:0021227	adrenal gland neoplasm	biolink:Disease	mondo	EFO:0003850|NCIT:C2859|ONCOTREE:ADRENALGLAND		tumor of adrenal gland|neoplasm of the adrenal gland|ADRENALGLAND|adrenal neoplasm|adrenal tumor|adrenal neoplasms|neoplasm of adrenal gland|tumor of the adrenal gland|adrenal gland tumor|adrenal gland neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0021227	A neoplasm (disease) that involves the adrenal gland.	NCIT:C2859
GO:0015075	ion transmembrane transporter activity	biolink:OntologyClass	mondo			ion transporter activity	http://purl.obolibrary.org/obo/GO_0015075	Enables the transfer of an ion from one side of a membrane to the other.	
RO:0000081	role of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0000081	a relation between a role and an independent continuant (the bearer), in which the role specifically depends on the bearer for its existence	
RO:0000080	quality of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0000080	a relation between a quality and an independent continuant (the bearer), in which the quality specifically depends on the bearer for its existence	
HGNC:24624	SIL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24624		
MONDO:0021226		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021226		
MONDO:0011899	Noonan syndrome-like disorder with loose anagen hair	biolink:Disease	mondo	ICD10:Q87.1|Orphanet:2701|UMLS:C1843181|UMLS:C3501846|MESH:C564342|SCTID:723444009|OMIMPS:607721|GARD:0010719	ordo_malformation_syndrome|clingen|prototype_pattern	Tosti syndrome|Noonan syndrome-like disorder with loose anagen hair 1|NSLH1|Noonan syndrome-like disorder with loose anagen hair|NSLH|NS/LAH|Noonan syndrome-like disorder with loose anagen hair 1; NSLH1|Noonan syndrome-like disorder with loose anagen hair; NSLH|Noonan-like syndrome with loose anagen hair	http://purl.obolibrary.org/obo/MONDO_0011899	Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome ; a distinctive hair anomaly described as loose anagen hair syndrome ; frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis ; and short stature, often associated with a GH deficiency and psychomotor delays.	SNOMEDCT:723444009|ORPHA:2701|UMLS:C1843181|http://identifiers.org/omim/607721|UMLS:C3501846|MESH:C564342
MONDO:0021225	uvea neoplasm	biolink:Disease	mondo	UMLS:C0042162|NCIT:C3436		uveal tumor|tumor of uvea|uvea neoplasm (disease)|neoplasm of the uvea|uveal neoplasm|neoplasm of uvea|uvea tumor|tumor of the uvea	http://purl.obolibrary.org/obo/MONDO_0021225	A neoplasm (disease) that involves the uvea.	NCIT:C3436|UMLS:C0042162
MONDO:0008268	polydactyly-myopia syndrome	biolink:Disease	mondo	MESH:C536331|SCTID:82639001|ICD9:625.4|GARD:0004413|Orphanet:2917|OMIM:174310|ICD10:Q87.2	gard_rare|ordo_malformation_syndrome	postaxial polydactyly with progressive myopia|polydactyly, postaxial, with progressive myopia|Czeizel Brooser syndrome|polydactyly myopia syndrome|polydactyly-myopia syndrome|PMS|postaxial polydactyly-progressive myopia syndrome|Czeizel-Brooser syndrome	http://purl.obolibrary.org/obo/MONDO_0008268	Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986.	http://identifiers.org/omim/174310|SNOMEDCT:82639001|ORPHA:2917|MESH:C536331
MONDO:0021224	iris neoplasm	biolink:Disease	mondo	UMLS:C0022079|NCIT:C3142		tumor of iris|neoplasm of the iris|iris neoplasm (disease)|neoplasm of iris|iris tumor|tumor of the iris	http://purl.obolibrary.org/obo/MONDO_0021224	A neoplasm (disease) that involves the iris.	UMLS:C0022079|NCIT:C3142
MONDO:0008269	polydactyly of a biphalangeal thumb	biolink:Disease	mondo	MESH:C536332|Orphanet:93339|ICD10:Q69.1|SCTID:445216006|GARD:0004417|OMIM:174400	ordo_morphological_anomaly	polydactyly, preaxial 1|polydactyly, preaxial type 1|thenar hypoplasia|polydactyly preaxial 1|PPD1|polydactyly, preaxial I|thumb polydactyly|Fromont anomaly|preaxial polydactyly 1|preaxial polydactyly type 1	http://purl.obolibrary.org/obo/MONDO_0008269	Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left.	ORPHA:93339|http://identifiers.org/omim/174400|SNOMEDCT:445216006|MESH:C536332
MONDO:0021223	digestive system neoplasm	biolink:Disease	mondo	EFO:0008549|NCIT:C3052|MESH:D005770		gastrointestinal system neoplasm|tumor of the GI system|digestive system neoplasm (disease)|tumor of GI system|GI neoplasm|neoplasm of digestive system|digestive system tumor|digestive neoplasm|digestive tumor|tumor of the digestive system|neoplasm of the gastrointestinal system|GI tumor|neoplasm of gastrointestinal system|gastrointestinal system tumor|gastrointestinal tumor|neoplasm of the GI system|tumor of digestive system|neoplasm of GI system|GI system tumor|neoplasm of the digestive system|GI system neoplasm|tumor of the gastrointestinal system|gastrointestinal neoplasm|tumor of gastrointestinal system	http://purl.obolibrary.org/obo/MONDO_0021223	A neoplasm (disease) that involves the digestive system.	MESH:D005770|NCIT:C3052
MONDO:0008266	polydactyly, postaxial, type A1	biolink:Disease	mondo	OMIM:174200		polydactyly, postaxial, type A1; PAPA1|polydactyly, postaxial, type A1|polydactyly, postaxial|PAPA1|postaxial polydactyly, type B|postaxial polydactyly, type A	http://purl.obolibrary.org/obo/MONDO_0008266		http://identifiers.org/omim/174200
MONDO:0021222	lacrimal gland neoplasm	biolink:Disease	mondo	NCIT:C4360		neoplasm of the lacrimal gland|neoplasm of lacrimal gland|lacrimal gland tumor|tumor of the lacrimal gland|lacrimal gland neoplasm (disease)|tumor of lacrimal gland	http://purl.obolibrary.org/obo/MONDO_0021222	A neoplasm (disease) that involves the lacrimal gland.	NCIT:C4360
MONDO:0008267	orofaciodigital syndrome V	biolink:Disease	mondo	UMLS:C1868118|GARD:0004120|ICD10:Q87.0|Orphanet:2919|SCTID:722105002|DOID:0060375|OMIM:174300|MESH:C557819	gard_rare|ordo_malformation_syndrome	OFD syndrome 5|orofaciodigital syndrome type V|OFD5|Thurston syndrome|polydactyly postaxial with median cleft of upper lip|oral facial digital syndrome type 5|oral-facial-digital syndrome type 5|orofaciodigital syndrome Thurston type|orofaciodigital syndrome V|orofaciodigital syndrome 5|oral facial digital syndrome 5|oral-facial-digital syndrome 5|orofaciodigital syndrome, Thurston type|polydactyly, postaxial, with Median cleft of upper lip|orofaciodigital syndrome V; OFD5|polydactyly, postaxial, with median cleft of upper lip|OFD5|oral-Facial-digital syndrome, type 5|orofaciodigital syndrome type 5|Ofds 5	http://purl.obolibrary.org/obo/MONDO_0008267	Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).	http://identifiers.org/omim/174300|MESH:C557819|UMLS:C1868118|ORPHA:2919|SNOMEDCT:722105002|DOID:0060375
MONDO:0021221	vestibulocochlear nerve neoplasm	biolink:Disease	mondo	NCIT:C5120|UMLS:C0346330|SCTID:387891008		tumor of vestibulocochlear nerve|tumor of acoustic nerve|neoplasm of the vestibulocochlear nerve|tumor of the acoustic nerve|tumor of eighth cranial nerve|tumor of the eighth cranial nerve|vestibulocochlear nerve neoplasms|neoplasm of vestibulocochlear nerve|vestibulocochlear nerve neoplasm (disease)|cranial nerve eight neoplasms|vestibulocochlear nerve tumor|tumor of the vestibulocochlear nerve|neoplasm of acoustic nerve|acoustic nerve tumor|neoplasm of the acoustic nerve|eighth cranial nerve neoplasm|neoplasm of eighth cranial nerve|eighth cranial nerve tumor|acoustic nerve neoplasm|neoplasm of the eighth cranial nerve|Vestibuloacoustic nerve neoplasms|eighth cranial nerve neoplasms	http://purl.obolibrary.org/obo/MONDO_0021221	A neoplasm (disease) that involves the vestibulocochlear nerve.	SNOMEDCT:387891008|NCIT:C5120|UMLS:C0346330
MONDO:0021220	eye neoplasm	biolink:Disease	mondo	NCIT:C3030|ONCOTREE:EYE		tumor of eyeball of camera-type eye|neoplasm of eye|tumor of eye|neoplasm of the eye|eye neoplasm (disease)|eyeball of camera-type eye neoplasm|neoplasm of eyeball of camera-type eye|eyeball of camera-type eye tumor|ocular neoplasm|ocular tumor|tumor of the eye|eye tumor	http://purl.obolibrary.org/obo/MONDO_0021220	A neoplasm (disease) that involves the eye.	NCIT:C3030
MONDO:0008264	autosomal dominant medullary cystic kidney disease with or without hyperuricemia	biolink:Disease	mondo	UMLS:CN536252|GARD:0010801|UMLS:C4511620|EFO:0008617|ICD10:Q61.5|UMLS:C4054549|UMLS:CN204412|SCTID:444699000|MESH:C536137|Orphanet:34149|MEDGEN:881357|MEDGEN:358137	ordo_disease|gard_rare	autosomal dominant medullary cystic kidney disease with or without hyperuricemia|medullary cystic kidney disease|polycystic kidneys, medullary type|ADTKD|autosomal dominant tubulointerstitial kidney disease|MCKD|medullary cystic disease|autosomal dominant interstitial kidney disease|autosomal dominant medullary cystic kidney disease	http://purl.obolibrary.org/obo/MONDO_0008264	A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1).	ORPHA:34149|MESH:C536137|http://identifiers.org/medgen/881357|SNOMEDCT:444699000|UMLS:CN536252|UMLS:C4054549|http://identifiers.org/medgen/358137|UMLS:C4511620|UMLS:CN204412
RO:0000087	has role	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0000087	a relation between an independent continuant (the bearer) and a role, in which the role specifically depends on the bearer for its existence	
MONDO:0008265	polycystic liver disease 1	biolink:Disease	mondo	MedDRA:10048834|ICD10:Q44.6|OMIM:174050|UMLS:C4255088|SCTID:716196007|Orphanet:2924|MedDRA:10010427	ordo_malformation_syndrome	polycystic liver disease; PCLD|PCLD1|nonsyndromic polycystic liver disease (disease)|isolated autosomal dominant polycystic liver disease|polycystic liver disease|polycystic liver disease 1 with or without kidney cysts|ADPCLD|autosomal dominant polycystic liver disease|nonsyndromic congenital polycystic liver disease|PCLD|isolated polycystic liver disease|polycystic liver disease 1 with or without kidney cysts; PCLD1|isolated congenital polycystic liver disease	http://purl.obolibrary.org/obo/MONDO_0008265	A polycystic liver disease in which the cause of the disease is a mutation in the PRKCSH gene, and is characterized by the appearance of numerous cysts spread throughout the liver.	SNOMEDCT:716196007|UMLS:C4255088|MEDDRA:10010427|ORPHA:2924|MEDDRA:10048834|http://identifiers.org/omim/174050
RO:0000086	has quality	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0000086	a relation between an independent continuant (the bearer) and a quality, in which the quality specifically depends on the bearer for its existence	
MONDO:0008262	Poland syndrome	biolink:Disease	mondo	MedDRA:10036007|UMLS:C0032357|MESH:D011045|SCTID:38371006|Orphanet:2911|OMIM:173800|ICD9:756.89|ICD10:Q79.8|GARD:0007412|DOID:12961|NCIT:C85017	gard_rare|ordo_malformation_syndrome	Poland syndrome|Poland anomaly|Poland syndactyly|Poland's syndactyly|unilateral defect of pectoralis muscle and syndactyly of the hand|Poland sequence|pectoralis muscle, absence of|Poland's syndrome	http://purl.obolibrary.org/obo/MONDO_0008262	Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly.	SNOMEDCT:38371006|UMLS:C0032357|MEDDRA:10036007|http://identifiers.org/omim/173800|ORPHA:2911|MESH:D011045|NCIT:C85017|DOID:12961
MONDO:0008263	polycystic kidney disease 1	biolink:Disease	mondo	OMIM:173900|DOID:0110858|UMLS:C3149841|SCTID:253878003		polycystic kidney disease 1 with or without polycystic liver disease|Potter type 3 polycystic kidney disease, formerly|Potter type 3 polycystic kidney disease|polycystic kidney disease 1|polycystic kidney disease 1 with or without polycystic liver disease; PKD1|polycystic kidney disease, adult|polycystic kidney disease, adult, type 1|PKD1 autosomal dominant polycystic kidney disease|polycystic kidney disease 1; PKD1|autosomal dominant polycystic kidney disease caused by mutation in PKD1|PKD1|polycystic kidney disease, adult, type I|APKD1|PKD1|polycystic kidney disease type 1	http://purl.obolibrary.org/obo/MONDO_0008263	Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene.	SNOMEDCT:253878003|http://identifiers.org/omim/173900|UMLS:C3149841|DOID:0110858
MONDO:0008260	Kindler syndrome	biolink:Disease	mondo	OMIM:173650|GARD:0004391|MESH:C536321|Orphanet:2908|DOID:0060472|SCTID:238836000|ICD10:Q81.8	ordo_clinical_subtype	KS|poikiloderma, hereditary acrokeratotic|hereditary acrokeratotic poikiloderma of Kindler-Weary|Kindler syndrome|congenital bullous poikiloderma|poikiloderma, congenital, with bullae, Weary type|KINDLER syndrome; KNDLRS|KNDLRS|poikiloderma of Kindler|bullous acrokeratotic poikiloderma of Kindler and Weary	http://purl.obolibrary.org/obo/MONDO_0008260	Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.	http://identifiers.org/omim/173650|UMLS:C0406557|ORPHA:2908|MESH:C536321|DOID:0060472|SNOMEDCT:238836000
HGNC:12642	VAMP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12642		
MONDO:0008261	hereditary sclerosing poikiloderma, Weary type	biolink:Disease	mondo	ICD10:Q82.8|OMIM:173700|Orphanet:221039|MESH:C562824	ordo_disease	poikiloderma, hereditary sclerosing	http://purl.obolibrary.org/obo/MONDO_0008261		http://identifiers.org/omim/173700|UMLS:C1275083|ORPHA:221039|MESH:C562824
MONDO:0021219		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021219		
MONDO:0021218	placenta neoplasm	biolink:Disease	mondo	NCIT:C4858|GARD:0007403		placental tumor|tumor of placenta|neoplasm of the placenta|placenta tumors|placenta neoplasms|placental neoplasm|neoplasm of placenta|trophoblastic tumor placental site|placental tumors|placenta tumor|tumor of the placenta|placenta neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0021218	A neoplasm (disease) that involves the placenta.	NCIT:C4858
MONDO:0021217		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021217		
MONDO:0021216		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021216		
FOODON:03307455	cow milk (raw)	biolink:OntologyClass	mondo	SUBSET_SIREN:F7455	"subset_siren"	milk|raw milk	http://purl.obolibrary.org/obo/FOODON_03307455		
GO:0015085	calcium ion transmembrane transporter activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0015085	Enables the transfer of calcium (Ca) ions from one side of a membrane to the other.	
MONDO:0021294	carcinoma in situ of gastric cardia	biolink:Disease	mondo	NCIT:C4428|UMLS:C0345795|SCTID:92560002		cardia of stomach carcinoma in situ|carcinoma in situ of the gastric cardia|carcinoma in situ of cardia of stomach|carcinoma in situ of the cardia of the stomach|gastric cardia carcinoma in situ aJCC v6 and v7|stage 0 cardia of stomach carcinoma|gastric cardia carcinoma in situ|cardia of stomach in situ carcinoma|stage 0 gastric cardia carcinoma	http://purl.obolibrary.org/obo/MONDO_0021294	A in situ carcinoma that involves the cardia of stomach.	NCIT:C4428|UMLS:C0345795|SNOMEDCT:92560002
MONDO:0021292	carcinoma in situ of gastric body	biolink:Disease	mondo	UMLS:C0345805|NCIT:C4430|SCTID:92549006		carcinoma in situ of the gastric body|stage 0 body of stomach carcinoma|body of stomach in situ carcinoma|carcinoma in situ of the body of the stomach|carcinoma in situ of body of stomach|stage 0 gastric body carcinoma|gastric body carcinoma in situ|gastric body carcinoma in situ aJCC v6 and v7|body of stomach carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0021292	A in situ carcinoma that involves the body of stomach.	NCIT:C4430|SNOMEDCT:92549006|UMLS:C0345805
MONDO:0021291	carcinoma in situ of fundus of stomach	biolink:Disease	mondo	UMLS:C0345800|SCTID:92598002|NCIT:C4429		carcinoma in situ of the fundus of the stomach|stage 0 gastric fundus carcinoma|gastric fundus carcinoma in situ|gastric fundus carcinoma in situ aJCC v6 and v7|stage 0 fundus of stomach carcinoma|fundus of stomach in situ carcinoma|carcinoma in situ of gastric fundus|carcinoma in situ of the gastric fundus|fundus of stomach carcinoma in situ|carcinoma in situ of fundus of stomach	http://purl.obolibrary.org/obo/MONDO_0021291	A in situ carcinoma that involves the fundus of stomach.	NCIT:C4429|UMLS:C0345800|SNOMEDCT:92598002
MONDO:0021290	carcinoma in situ of appendix	biolink:Disease	mondo	NCIT:C4593|UMLS:C0347125|SCTID:92539008		vermiform appendix carcinoma in situ|stage 0 appendix cancer|stage 0 vermiform appendix carcinoma|carcinoma in situ of the appendix|stage 0 appendix carcinoma aJCC v7|vermiform appendix in situ carcinoma|carcinoma in situ of vermiform appendix|stage 0 appendix carcinoma	http://purl.obolibrary.org/obo/MONDO_0021290	A in situ carcinoma that involves the vermiform appendix.	NCIT:C4593|SNOMEDCT:92539008|UMLS:C0347125
HGNC:12605	CLRN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12605		
MONDO:0021299	carcinoma in situ of extrahepatic bile duct	biolink:Disease	mondo	SCTID:92589000|UMLS:C0345914|NCIT:C4442		extrahepatic biliary duct carcinoma in situ|carcinoma in situ of extrahepatic biliary ducts|stage 0 extrahepatic bile duct cancer|extrahepatic bile duct cancer stage 0|extrahepatic bile duct in situ carcinoma|carcinoma in situ of the extrahepatic bile duct|carcinoma in situ of extrahepatic bile duct|stage 0 carcinoma of extrahepatic bile duct|carcinoma in situ of extrahepatic bile ducts|stage 0 carcinoma of the extrahepatic bile duct|stage 0 extrahepatic bile duct carcinoma in situ|stage 0 extrahepatic bile duct carcinoma|extrahepatic bile duct carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0021299	A in situ carcinoma that involves the extrahepatic bile duct.	NCIT:C4442|SNOMEDCT:92589000|UMLS:C0345914
MONDO:0021298	carcinoma in situ of oropharynx	biolink:Disease	mondo	UMLS:C0347099|SCTID:92668003|NCIT:C4590		stage 0 oropharyngeal carcinoma aJCC v7|carcinoma in situ of the oropharynx|stage 0 oropharyngeal carcinoma aJCC v6|stage 0 carcinoma of oropharynx|oropharyngeal carcinoma in situ|stage 0 oropharyngeal carcinoma aJCC v6 and v7|stage 0 carcinoma of the oropharynx|stage 0 oropharyngeal carcinoma in situ|oropharynx in situ carcinoma|carcinoma in situ of oropharynx|stage 0 oropharynx carcinoma|stage 0 oropharyngeal carcinoma|oropharynx carcinoma in situ|stage 0 oropharyngeal cancer|stage 0 oropharyngeal throat cancer|oropharyngeal cancer stage 0	http://purl.obolibrary.org/obo/MONDO_0021298	A in situ carcinoma that involves the oropharynx.	UMLS:C0347099|NCIT:C4590|SNOMEDCT:92668003
MONDO:0021297	carcinoma in situ of nasopharynx	biolink:Disease	mondo	NCIT:C9099|UMLS:C0347096|UMLS:C4331312|SCTID:92664001		stage 0 nasopharyngeal cancer|nasopharyngeal carcinoma in situ|stage 0 nasopharyngeal carcinoma|stage 0 carcinoma of the nasopharynx|stage 0 carcinoma of nasopharynx|stage 0 nasopharyngeal throat cancer|stage 0 nasopharyngeal carcinoma aJCC v6, v7, and v8|carcinoma in situ of the nasopharynx|stage 0 nasopharyngeal carcinoma aJCC v8|stage 0 nasopharyngeal carcinoma aJCC v7|stage 0 nasopharyngeal carcinoma aJCC v6|nasopharynx in situ carcinoma|nasopharynx carcinoma in situ|carcinoma in situ of nasopharynx|stage 0 nasopharynx carcinoma|stage 0 nasopharyngeal carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0021297	A in situ carcinoma that involves the nasopharynx.	UMLS:C0347096|NCIT:C9099|UMLS:C4331312|SNOMEDCT:92664001
MONDO:0021296	carcinoma in situ of renal pelvis	biolink:Disease	mondo	NCIT:C4597|UMLS:C0347184|ICD9:233.9|SCTID:92697000		stage 0is carcinoma of the kidney pelvis|renal pelvis in situ carcinoma|kidney pelvis carcinoma in situ|stage 0is carcinoma of kidney pelvis|stage 0is renal pelvis cancer aJCC v7|carcinoma in situ of renal pelvis|carcinoma in situ of the renal pelvis|stage 0is renal pelvis urothelial carcinoma|stage 0is kidney renal pelvis urothelial cancer|stage 0is renal pelvis cancer|stage 0is kidney pelvis carcinoma|carcinoma in situ of the kidney pelvis|stage 0 renal pelvis carcinoma|renal pelvis carcinoma in situ|carcinoma in situ of kidney pelvis|stage 0is carcinoma of renal pelvis|stage 0is renal pelvis urothelial carcinoma aJCC v7|stage 0is carcinoma of the renal pelvis	http://purl.obolibrary.org/obo/MONDO_0021296	A in situ carcinoma that involves the renal pelvis.	UMLS:C0347184|NCIT:C4597|SNOMEDCT:92697000
MONDO:0033204	ciliary dyskinesia, primary, 37	biolink:Disease	mondo	DOID:0080266|OMIM:617577		CILD37|ciliary dyskinesia, primary, 37; CILD37|ciliary dyskinesia, primary, 37, with or without situs inversus|primary ciliary dyskinesia 37	http://purl.obolibrary.org/obo/MONDO_0033204		DOID:0080266|http://identifiers.org/omim/617577
MONDO:0033202	deafness, autosomal recessive 109	biolink:Disease	mondo	DOID:0111639|OMIM:618013|UMLS:CN248519		deafness, autosomal recessive 109; DFNB109|DFNB109	http://purl.obolibrary.org/obo/MONDO_0033202		http://identifiers.org/omim/618013|DOID:0111639|UMLS:CN248519
MONDO:0033203	nephrotic syndrome 14	biolink:Disease	mondo	Orphanet:506334|UMLS:CN339707|DOID:0080265|OMIM:617575	ordo_disease	nephrotic syndrome 14; NPHS14|NPHS14|nephrotic syndrome, type 14|familial steroid-resistant nephrotic syndrome with adrenal insufficiency|primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency	http://purl.obolibrary.org/obo/MONDO_0033203		DOID:0080265|UMLS:CN339707|http://identifiers.org/omim/617575|ORPHA:506334
MONDO:0033200	deafness, autosomal recessive 108	biolink:Disease	mondo	OMIM:617654|DOID:0080263		deafness, autosomal recessive 108; DFNB108|autosomal recessive nonsyndromic deafness 108|DFNB108	http://purl.obolibrary.org/obo/MONDO_0033200		DOID:0080263|http://identifiers.org/omim/617654
MONDO:0033201	deafness, autosomal recessive 57	biolink:Disease	mondo	UMLS:CN248511|DOID:0111635|OMIM:618003		deafness, autosomal recessive 57; DFNB57|DFNB57	http://purl.obolibrary.org/obo/MONDO_0033201		http://identifiers.org/omim/618003|DOID:0111635|UMLS:CN248511
FOODON:00001958	human milk based food product	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00001958		
MONDO:0021284	carcinoma in situ of ureter	biolink:Disease	mondo	SCTID:92782006|UMLS:C0346267|ICD9:233.9|NCIT:C4529		ureter carcinoma in situ|stage 0is ureter urothelial cancer|stage 0is carcinoma of ureter|stage 0is carcinoma of the ureter|stage 0is ureter cancer aJCC v7|stage 0is ureter urothelial carcinoma|ureteral carcinoma in situ|stage 0 ureter carcinoma|carcinoma in situ of the ureter|stage 0is ureter carcinoma|stage 0is ureter cancer|ureter cancer stage 0is|ureter in situ carcinoma|stage 0is ureter urothelial carcinoma aJCC v7|carcinoma in situ of ureter|stage 0is ureteral carcinoma	http://purl.obolibrary.org/obo/MONDO_0021284	A in situ carcinoma that involves the ureter.	NCIT:C4529|SNOMEDCT:92782006|UMLS:C0346267
MONDO:0021283	malignant teratoma of mediastinum	biolink:Disease	mondo	SCTID:278042005|NCIT:C4668|UMLS:C0349663		immature malignant teratoma of mediastinum|mediastinum malignant teratoma|malignant mediastinal teratoma|malignant teratoma of the mediastinum|mediastinal immature malignant teratoma|immature malignant teratoma of the mediastinum	http://purl.obolibrary.org/obo/MONDO_0021283	A malignant teratoma that involves the mediastinum.	UMLS:C0349663|NCIT:C4668|SNOMEDCT:278042005
MONDO:0021282	malignant teratoma of testis	biolink:Disease	mondo	ICD9:186.9|SCTID:416769008|NCIT:C6353|UMLS:C1334154		testicular malignant teratoma|testis malignant teratoma|malignant testicular teratoma|immature teratoma of testis|immature teratoma of the testis|immature testicular teratoma|testicular immature teratoma|malignant teratoma of the testis	http://purl.obolibrary.org/obo/MONDO_0021282	A malignant teratoma that involves the testis.	UMLS:C1334154|SNOMEDCT:416769008|NCIT:C6353
MONDO:0021281	cavernous hemangioma of retina	biolink:Disease	mondo	UMLS:C0730304|NCIT:C4921|SCTID:312937006		retina cavernous angioma|cavernous hemangioma of the retina|retinal cavernous hemangioma|retina cavernous hemangioma|cavernous angioma of retina|cavernous angioma of the retina|retinal cavernous angioma	http://purl.obolibrary.org/obo/MONDO_0021281	A cavernous hemangioma that involves the retina.	UMLS:C0730304|NCIT:C4921|SNOMEDCT:312937006
MONDO:0021280	mucoepidermoid carcinoma of parotid gland	biolink:Disease	mondo	UMLS:C1335363|NCIT:C5938|SCTID:423793008		mucoepidermoid carcinoma of the parotid gland|parotid gland mucoepidermoid carcinoma|mucoepidermoid carcinoma of the parotid|mucoepidermoid carcinoma of parotid|parotid mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0021280	A mucoepidermoid carcinoma that involves the parotid gland.	NCIT:C5938|UMLS:C1335363|SNOMEDCT:423793008
MONDO:0021289	carcinoma in situ of cecum	biolink:Disease	mondo	SCTID:92559007|UMLS:C0347126|NCIT:C4594		carcinoma in situ of the cecum|caecum in situ carcinoma|carcinoma in situ of caecum|cecum carcinoma in situ|caecum carcinoma in situ|stage 0 cecum carcinoma|stage 0 caecum carcinoma|cecum carcinoma in situ aJCC v7|cecum carcinoma in situ aJCC v6	http://purl.obolibrary.org/obo/MONDO_0021289	A in situ carcinoma that involves the caecum.	UMLS:C0347126|NCIT:C4594|SNOMEDCT:92559007
MONDO:0021288	carcinoma in situ of hypopharynx	biolink:Disease	mondo	NCIT:C9101|UMLS:C0347100|UMLS:C4331310|SCTID:92612007		hypopharynx carcinoma in situ|stage 0 hypopharyngeal carcinoma in situ|carcinoma in situ of hypopharynx|hypopharyngeal carcinoma in situ|stage 0 hypopharynx carcinoma|stage 0 hypopharyngeal carcinoma|stage 0 hypopharyngeal cancer|stage 0 carcinoma of the hypopharynx|stage 0 hypopharyngeal throat cancer|stage 0 carcinoma of hypopharynx|stage 0 hypopharyngeal carcinoma aJCC v6, v7, and v8|stage 0 hypopharyngeal carcinoma aJCC v8|carcinoma in situ of the hypopharynx|stage 0 hypopharyngeal carcinoma aJCC v7|stage 0 hypopharyngeal carcinoma aJCC v6|hypopharynx in situ carcinoma	http://purl.obolibrary.org/obo/MONDO_0021288	A in situ carcinoma that involves the hypopharynx.	UMLS:C4331310|UMLS:C0347100|NCIT:C9101|SNOMEDCT:92612007
MONDO:0021287	carcinoma in situ of epiglottis	biolink:Disease	mondo	SCTID:92584005|UMLS:C0347103|NCIT:C4592		epiglottis in situ carcinoma|carcinoma in situ of epiglottis|epiglottis carcinoma in situ|Epiglottis carcinoma in situ|stage 0 epiglottic carcinoma|epiglottic carcinoma in situ|stage 0 epiglottic throat cancer|stage 0 epiglottic carcinoma aJCC v6, v7, and v8|stage 0 epiglottis carcinoma|stage 0 epiglottic carcinoma aJCC v8|stage 0 epiglottic carcinoma aJCC v7|carcinoma in situ of the Epiglottis|stage 0 epiglottic carcinoma aJCC v6	http://purl.obolibrary.org/obo/MONDO_0021287	A in situ carcinoma that involves the epiglottis.	UMLS:C0347103|SNOMEDCT:92584005|NCIT:C4592
MONDO:0021286		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021286		
MONDO:0021285	carcinoma in situ of urethra	biolink:Disease	mondo	SCTID:92784007|NCIT:C4531|UMLS:C0346280|ICD9:233.9		carcinoma in situ of urethra|stage 0is urethral cancer aJCC v7|stage 0is carcinoma of the urethra|urethra carcinoma in situ|stage 0is carcinoma of urethra|stage 0 urethra carcinoma|stage 0is urethral carcinoma|stage 0is urethral cancer|urethra in situ carcinoma|stage 0is urethra carcinoma|carcinoma in situ of the urethra|urethral carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0021285	A in situ carcinoma that involves the urethra.	UMLS:C0346280|NCIT:C4531|SNOMEDCT:92784007
RO:0000057	has participant	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0000057	a relation between a process and a continuant, in which the continuant is somehow involved in the process	
HP:0000202	Oral cleft	biolink:PhenotypicFeature	mondo	UMLS:C0158646|SNOMEDCT_US:253983005|SNOMEDCT_US:66948001|UMLS:C4021813		Cleft lip/palate|Cleft lip, cleft palate|Cleft of the mouth|Oral clefting	http://purl.obolibrary.org/obo/HP_0000202	The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.	
HP:0000201	Pierre-Robin sequence	biolink:PhenotypicFeature	mondo	UMLS:C0031900|SNOMEDCT_US:4602007|MSH:D010855		Pierre-robin anomaly|Pierre Robin sequence|Pierre-robin malformation|Pierre-robin deformity|Robin sequence	http://purl.obolibrary.org/obo/HP_0000201	Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate.	
GO:0015067	amidinotransferase activity	biolink:OntologyClass	mondo			transamidinase activity	http://purl.obolibrary.org/obo/GO_0015067	Catalysis of the reversible transfer of an amidino group to an acceptor.	
GO:0015068	glycine amidinotransferase activity	biolink:OntologyClass	mondo			arginine-glycine amidinotransferase activity|glycine transamidinase activity|arginine-glycine transamidinase activity|L-arginine:glycine amidinotransferase activity	http://purl.obolibrary.org/obo/GO_0015068	Catalysis of the reaction: L-arginine + glycine = L-ornithine + guanidinoacetate.	
MONDO:0033211	diencephalic-mesencephalic junction dysplasia syndrome	biolink:Disease	mondo	OMIMPS:251280			http://purl.obolibrary.org/obo/MONDO_0033211		
MONDO:0021273	leiomyoma of ciliary body	biolink:Disease	mondo	UMLS:C0346386|SCTID:255020006|ICD9:224.0|NCIT:C4560		leiomyoma of the ciliary body|ciliary body leiomyoma	http://purl.obolibrary.org/obo/MONDO_0021273	A leiomyoma that involves the ciliary body.	NCIT:C4560|UMLS:C0346386|SNOMEDCT:255020006
MONDO:0021272	inherited orthostatic hypotension	biolink:Disease	mondo	OMIMPS:223360			http://purl.obolibrary.org/obo/MONDO_0021272		
MONDO:0021271	villous adenoma of colon	biolink:Disease	mondo	UMLS:C0149862|SCTID:309084001|NCIT:C3495		colonic villous adenoma|colon villous adenoma|villous adenoma of the colon	http://purl.obolibrary.org/obo/MONDO_0021271	A villous adenoma that involves the colon.	UMLS:C0149862|NCIT:C3495|SNOMEDCT:309084001
RO:0000052	inheres in	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0000052	a relation between a specifically dependent continuant (the dependent) and an independent continuant (the bearer), in which the dependent specifically depends on the bearer for its existence	
MONDO:0021279	mucoepidermoid carcinoma of submandibular gland	biolink:Disease	mondo	NCIT:C5939|SCTID:423424005|UMLS:C1336524		submandibular gland mucoepidermoid carcinoma|mucoepidermoid carcinoma of the submandibular gland	http://purl.obolibrary.org/obo/MONDO_0021279	A mucoepidermoid carcinoma that involves the submandibular gland.	SNOMEDCT:423424005|UMLS:C1336524|NCIT:C5939
HP:0002835	Aspiration	biolink:PhenotypicFeature	mondo	UMLS:C2712334|SNOMEDCT_US:413585005|UMLS:C0700198|SNOMEDCT_US:68052005		Pulmonary aspiration	http://purl.obolibrary.org/obo/HP_0002835	Inspiration of a foreign object into the airway.	
MONDO:0021278		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021278		
MONDO:0008299	posterior column ataxia	biolink:Disease	mondo	OMIM:176250|GARD:0010044|UMLS:C1867923|MESH:C536342	gard_rare	Biemond ataxia|posterior column ataxia	http://purl.obolibrary.org/obo/MONDO_0008299		MESH:C536342|http://identifiers.org/omim/176250|UMLS:C1867923
RO:0000056	participates in	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0000056	a relation between a continuant and a process, in which the continuant is somehow involved in the process	
MONDO:0021276	papilloma of buccal mucosa	biolink:Disease	mondo	SCTID:448147005|ICD9:210.4|UMLS:C1332641|NCIT:C5819		buccal mucosa papilloma|papilloma of the buccal mucosa	http://purl.obolibrary.org/obo/MONDO_0021276	A papilloma that involves the buccal mucosa.	SNOMEDCT:448147005|NCIT:C5819|UMLS:C1332641
MONDO:0008297	variegate porphyria	biolink:Disease	mondo	NCIT:C85219|GARD:0007848|MESH:D046350|SCTID:58275005|DOID:4346|ICD10:E80.2|Orphanet:79473|UMLS:C0162532|OMIM:176200	ordo_disease|gard_rare	PPOX deficiency|porphyria variegate|porphyria, South African type|protoporphyrinogen oxidase deficiency|porphyria variegata|VP|Protocoproporphyria|variegate porphyria|variegate porphyria, homozygous variant	http://purl.obolibrary.org/obo/MONDO_0008297	Variegate porphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.	UMLS:C0162532|DOID:4346|http://identifiers.org/omim/176200|SNOMEDCT:58275005|ORPHA:79473|NCIT:C85219|MESH:D046350
MONDO:0021275	papilloma of eyelid	biolink:Disease	mondo	NCIT:C4061|SCTID:314515006|UMLS:C1142491		papilloma of the eyelid|eyelid papilloma	http://purl.obolibrary.org/obo/MONDO_0021275	A papilloma that involves the eyelid.	NCIT:C4061|UMLS:C1142491|SNOMEDCT:314515006
MONDO:0008298	postaxial tetramelic oligodactyly	biolink:Disease	mondo	MESH:C566767|ICD10:Q73.8|Orphanet:2730|GARD:0004065|OMIM:176240|UMLS:C1867924	ordo_malformation_syndrome|gard_rare	postaxial oligodactyly, tetramelic|oligodactyly tetramelic postaxial	http://purl.obolibrary.org/obo/MONDO_0008298	Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.	ORPHA:2730|MESH:C566767|http://identifiers.org/omim/176240|UMLS:C1867924
RO:0000053	bearer of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0000053	a relation between an independent continuant (the bearer) and a specifically dependent continuant (the dependent), in which the dependent specifically depends on the bearer for its existence	
MONDO:0008295	sporadic porphyria cutanea tarda	biolink:Disease	mondo	SCTID:402479002|UMLS:C1867968|OMIM:176090|Orphanet:443057|UMLS:C1276127|ICD10:E80.1|MESH:C566768	ordo_clinical_subtype	acquired porphyria cutanea tarda|PCT, 'sporadic' type|PCT, type 1|porphyria cutanea tarda, type I|porphyria cutanea tarda type I|porphyria cutanea tarda, type 1	http://purl.obolibrary.org/obo/MONDO_0008295	An instance of porphyria cutanea tarda that is acquired during the lifetime of the individual.	MESH:C566768|http://identifiers.org/omim/176090|UMLS:C1276127|UMLS:C1867968|ORPHA:443057|SNOMEDCT:402479002
MONDO:0008296	familial porphyria cutanea tarda	biolink:Disease	mondo	UMLS:C0268323|ICD10:E80.1|OMIM:176100|Orphanet:443062|SCTID:59229005	ordo_clinical_subtype	porphyria, hepatoerythropoietic|hereditary porphyria cutanea tarda|porphyria, Hepatocutaneous type|PCT|porphyria cutanea tarda, type 2|porphyria cutanea tarda|uroporphyrinogen decarboxylase deficiency|Urod deficiency|PCT, 'familial' type|porphyria cutanea tarda type II|PCT, type 2	http://purl.obolibrary.org/obo/MONDO_0008296	An instance of porphyria cutanea tarda that is caused by an inherited modification of the individual's genome.	http://identifiers.org/omim/176100|SNOMEDCT:59229005|ORPHA:443062|UMLS:C0268323
MONDO:0008293	porokeratosis 3, disseminated superficial actinic type	biolink:Disease	mondo	MESH:C536339|OMIM:175900|GARD:0009505		porokeratosis 3, multiple types; POROK3|porokeratosis, disseminated superficial actinic 1|porokeratosis 3, disseminated superficial actinic type|DSAP1|Dsap|porokeratosis 3, multiple types|POROK3|porokeratosis 3, disseminated superficial actinic type; POROK3|porokeratosis, disseminated superficial actinic, 1	http://purl.obolibrary.org/obo/MONDO_0008293		MESH:C536339|http://identifiers.org/omim/175900
MONDO:0008294	acute intermittent porphyria	biolink:Disease	mondo	UMLS:C0162565|Orphanet:79276|NCIT:C84536|ICD10:E80.2|DOID:3890|GARD:0005732|SCTID:234422006|MESH:D017118|OMIM:176000	ordo_disease	AIP|porphyria, Chester type|pyrroloporphyria|PBGD deficiency|uroporphyrinogen synthase deficiency|hydroxymethylbilane synthase deficiency|porphyria, acute intermittent|HMBS deficiency|porphyria intermittent acute|porphyria, acute intermittent; AIP|porphyria, acute intermittent, Nonerythroid variant|AIP - acute intermittent porphyria|UPS deficiency|porphobilinogen deaminase deficiency|porphyria, Swedish type	http://purl.obolibrary.org/obo/MONDO_0008294	Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.	UMLS:C0162565|http://identifiers.org/omim/176000|ORPHA:79276|DOID:3890|MESH:D017118|NCIT:C84536|SNOMEDCT:234422006
MONDO:0008291	porokeratosis plantaris palmaris et disseminata	biolink:Disease	mondo	OMIM:175850|SCTID:718218005|Orphanet:737|ICD10:Q82.8	ordo_disease	porokeratosis 2, palmar, plantar, and disseminated type; POROK2|POROK2|palmar, plantar and disseminated porokeratosis|porokeratosis, palmar, plantar, and disseminated, 1|porokeratosis plantaris palmaris et disseminata|porokeratosis, palmar, plantar, and disseminated|porokeratosis palmaris Et plantaris disseminata|porokeratosis 2, palmar, plantar, and disseminated type	http://purl.obolibrary.org/obo/MONDO_0008291	Porokeratosis plantaris palmaris et disseminata (PPPD) is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalized.	ORPHA:737|http://identifiers.org/omim/175850|SNOMEDCT:718218005
MONDO:0008292	punctate palmoplantar keratoderma type 2	biolink:Disease	mondo	Orphanet:79502|OMIM:175860|UMLS:C1867982|ICD10:Q82.8|SCTID:765096001|GARD:0004439|DOID:0080213	ordo_disease	porokeratosis punctata palmaris Et plantaris|palmoplantar keratoderma, punctate type II|PPPP|type 2 punctate PPK|palmoplantar keratoderma, punctate type II; PPKP2|keratoderma palmoplantar, punctate type 2|punctate palmoplantar hyperkeratosis type 2|punctate palmoplantar keratoderma type II|PPKP2	http://purl.obolibrary.org/obo/MONDO_0008292	Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections ("spiny keratosis") on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed.	ORPHA:79502|UMLS:C1867982|http://identifiers.org/omim/175860|SNOMEDCT:765096001|DOID:0080213
MONDO:0008290	POROK1	biolink:Disease	mondo	OMIM:175800		porokeratosis of Mibelli|porokeratosis 1, multiple types; POROK1|POROK1|porokeratosis 1, MIBELLI type|porokeratosis 1, multiple types|porokeratosis 1, MIBELLI type; POROK1	http://purl.obolibrary.org/obo/MONDO_0008290		http://identifiers.org/omim/175800
GO:0015031	protein transport	biolink:OntologyClass	mondo			enzyme transport	http://purl.obolibrary.org/obo/GO_0015031	The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
MONDO:0021260	sensory ganglionopathy	biolink:Disease	mondo			sensory ganglion disease or disorder|sensory ganglion disease|disorder of sensory ganglion|disorder of sensory ganglion|disease of sensory ganglion|disease or disorder of sensory ganglion	http://purl.obolibrary.org/obo/MONDO_0021260	A disease or disorder that involves the sensory ganglion.	
GO:0030667	secretory granule membrane	biolink:OntologyClass	mondo			secretory vesicle membrane	http://purl.obolibrary.org/obo/GO_0030667	The lipid bilayer surrounding a secretory granule.	
HP:0002846	Abnormal B cell morphology	biolink:PhenotypicFeature	mondo	UMLS:C4021748		Abnormality of B cells|Abnormal B cells	http://purl.obolibrary.org/obo/HP_0002846	A structural abnormality of B cells.	
MONDO:0035892	Mills syndrome	biolink:Disease	mondo	Orphanet:94091	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0035892	A rare, acquired motor neuron disease characterized by a slowly progressive, unilateral, ascending or descending hemplegia, associated to unilateral or asymmetrical pyramidal signs and no sensory loss. It is a diagnosis of exclusion and contorversy exists regarding whether the presence of bulbar symptoms, sphincter disturbances, fasciculations or cognitive manifestations characterize the disease.	ORPHA:94091
HP:0002840	Lymphadenitis	biolink:PhenotypicFeature	mondo	MSH:D008199|SNOMEDCT_US:19471005|UMLS:C0024205		Inflammation of the lymph nodes	http://purl.obolibrary.org/obo/HP_0002840	Inflammation of a lymph node.	
HGNC:12601	USH2A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12601		
MONDO:0023833	multifocal choroiditis	biolink:Disease	mondo	GARD:0009824|UMLS:C1533060|SCTID:414783007|MESH:C537374	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023833	Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort. Though the cause is unknown, multifocal choroiditis is seen most frequently in women ages 20 to 60, and usually affects both eyes. MFC is generally treated with steroid medication that can be taken orally or injected into the eye. Multifocal choroiditis is a chronic condition, thus symptoms may return or worsen even after successful treatment.	SNOMEDCT:414783007|UMLS:C1533060|MESH:C537374
MONDO:0011845	migraine with or without aura, susceptibility to, 3	biolink:Disease	mondo	OMIM:607498	predisposition	migraine with or without aura, susceptibility to, 3|MGR3|migraine with or without aura, susceptibility to, type 3	http://purl.obolibrary.org/obo/MONDO_0011845		http://identifiers.org/omim/607498
GO:0042640	anagen	biolink:OntologyClass	mondo			hair growth	http://purl.obolibrary.org/obo/GO_0042640	The growth phase of the hair cycle. Lasts, for example, about 3 to 6 years for human scalp hair.	
MONDO:0011844	myoclonic dystonia 15	biolink:Disease	mondo	UMLS:C1843786|MESH:C538002|DOID:0090035|OMIM:607488|Orphanet:210566		myoclonic dystonia type 15|DYT15|dystonia 15, myoclonic|dystonia 15, myoclonic; DYT15	http://purl.obolibrary.org/obo/MONDO_0011844	A myoclonic dystonia characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 18p11.	DOID:0090035|UMLS:C1843786|ORPHA:210566|MESH:C538002|http://identifiers.org/omim/607488
MONDO:0011847	migraine without aura	biolink:Disease	mondo	HP:0002083|ICD9:346.1|ICD10:G43.0|UMLS:C0338480|EFO:0005296|OMIM:607501|NCIT:C117004|ICD10:G43.009|SCTID:56097005|DOID:12783|MESH:D020326|COHD:378735	predisposition	migraine without aura, susceptibility to, type 4|migraine without aura, susceptibility to, 4|MGR4|MGOA|common migraine	http://purl.obolibrary.org/obo/MONDO_0011847	A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms.	UMLS:C0338480|DOID:12783|MESH:D020326|SNOMEDCT:56097005|NCIT:C117004|http://identifiers.org/omim/607501
MONDO:0011846	bulimia nervosa, susceptibility to, 1	biolink:Disease	mondo	OMIM:607499|UMLS:CN244558	predisposition	bulimia nervosa, susceptibility to; BULN|BULN1|bulimia nervosa, susceptibility to, 1; BULN1|BULN|bulimia nervosa, susceptibility to, 1|BN	http://purl.obolibrary.org/obo/MONDO_0011846		UMLS:CN244558|http://identifiers.org/omim/607499
MONDO:0011849	psoriatic arthritis	biolink:Disease	mondo	MESH:D015535|SCTID:156370009|ICD10:L40.5|OMIM:607507|ICD9:696.0|UMLS:C0003872|EFO:0003778|DOID:9008|NCIT:C61277|ICD10:L40.50	predisposition	psoriatic arthritis, susceptibility to|arthropathic psoriasis|arthritis psoriatica|psoriatic arthropathy|psoriatic arthritis, susceptibility to, 1|susceptibility to psoriatic arthritis	http://purl.obolibrary.org/obo/MONDO_0011849	Joint inflammation associated with psoriasis.	http://identifiers.org/omim/607507|NCIT:C61277|SNOMEDCT:156370009|DOID:9008|MESH:D015535|UMLS:C0003872
MONDO:0011848	headache associated with sexual activity	biolink:Disease	mondo	OMIM:607504|COHD:374342|ICD10:G44.82		headache associated with sexual activity|HSA|headache associated with sexual activity; HSA|benign sexual headache	http://purl.obolibrary.org/obo/MONDO_0011848		http://identifiers.org/omim/607504
UBERON:0007499	epithelial sac	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0007499	An epithelial tube that is open at one end only.	
HGNC:3363	ENTPD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3363		
MONDO:0011850	migraine with or without aura, susceptibility to, 5	biolink:Disease	mondo	OMIM:607508	predisposition	migraine with or without aura, susceptibility to, 5|migraine with or without aura, susceptibility to, type 5|Mgr5	http://purl.obolibrary.org/obo/MONDO_0011850		http://identifiers.org/omim/607508
MONDO:0011852	nonsyndromic congenital nail disorder 8	biolink:Disease	mondo	UMLS:C1843761|DOID:0080086|MESH:C564384|OMIM:607523		nonsyndromic congenital nail disorder type 8|toenail dystrophy, isolated|inherited isolated nail anomaly caused by mutation in COL7A1|nail disorder, nonsyndromic congenital, 8|nail disorder, nonsyndromic congenital, 8; NDNC8|NDNC8|nail disorder, nonsyndromic congenital, type 8|COL7A1 inherited isolated nail anomaly	http://purl.obolibrary.org/obo/MONDO_0011852	Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the COL7A1 gene.	DOID:0080086|http://identifiers.org/omim/607523|UMLS:C1843761|MESH:C564384
MONDO:0011851	migraine with or without aura, susceptibility to, 6	biolink:Disease	mondo	OMIM:607516|MESH:C564385	predisposition	migraine with or without aura, susceptibility to, 6|migraine with or without aura, susceptibility to, type 6|MGR6|migraine, familial hemiplegic, 4	http://purl.obolibrary.org/obo/MONDO_0011851		http://identifiers.org/omim/607516|MESH:C564385
MONDO:0011854	secretory diarrhea, myopathy, and deafness	biolink:Disease	mondo	MESH:C564382|OMIM:607540|UMLS:C1843757		secretory diarrhea, myopathy, and deafness	http://purl.obolibrary.org/obo/MONDO_0011854		http://identifiers.org/omim/607540|UMLS:C1843757|MESH:C564382
MONDO:0011853	Camptosynpolydactyly, complex	biolink:Disease	mondo	UMLS:C1843758|MESH:C564383|OMIM:607539		camptosynpolydactyly, complex|camptopolydactyly, disorganization type|CCSPD|camptosynpolydactyly, complex; CCSPD	http://purl.obolibrary.org/obo/MONDO_0011853		http://identifiers.org/omim/607539|UMLS:C1843758|MESH:C564383
GO:0042645	mitochondrial nucleoid	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0042645	The region of a mitochondrion to which the DNA is confined.	
MONDO:0008208	patella, familial recurrent dislocation of	biolink:Disease	mondo	UMLS:C1868575|OMIM:169000|MESH:C566816		patella, familial recurrent dislocation of	http://purl.obolibrary.org/obo/MONDO_0008208		MESH:C566816|UMLS:C1868575|http://identifiers.org/omim/169000
MONDO:0008209	Char syndrome	biolink:Disease	mondo	SCTID:703534001|OMIM:169100|GARD:0001237|DOID:0060563|UMLS:C1868570|ICD10:Q87.8|MESH:C566815|Orphanet:46627|ICD9:759.89	gard_rare|ordo_malformation_syndrome	CHAR syndrome; CHAR|Char|patent ductus arteriosus with facial dysmorphism and abnormal fifth digits|Char syndrome|patent ductus arteriosus with Facial Dysmorphism and abnormal fifth digits	http://purl.obolibrary.org/obo/MONDO_0008209	Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.	MESH:C538076|ORPHA:46627|MESH:C566815|UMLS:C1868570|SNOMEDCT:703534001|DOID:0060563|http://identifiers.org/omim/169100
MONDO:0023820	Moebius axonal neuropathy hypogonadism	biolink:Disease	mondo	GARD:0003698|MESH:C535806	gard_rare	Moebius syndrome with hypogonadotrophic hypogonadism and progressive peripheral neuropathy axonal and demyelinating type	http://purl.obolibrary.org/obo/MONDO_0023820		MESH:C535806
NCBITaxon:91827	Gunneridae	organism taxon	mondo	GC_ID:1		core eudicots|core eudicotyledons	http://purl.obolibrary.org/obo/NCBITaxon_91827		
MONDO:0008206	benign paroxysmal tonic upgaze of childhood with ataxia	biolink:Disease	mondo	SCTID:763127004|UMLS:C1868576|ICD10:G96.8|GARD:0004176|MESH:C566817|OMIM:168885|Orphanet:1179	ordo_disease	Ouvrier Billson syndrome|Ouvrier-Billson syndrome|paroxysmal tonic upgaze, benign childhood, with ataxia	http://purl.obolibrary.org/obo/MONDO_0008206	Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.	ORPHA:1179|http://identifiers.org/omim/168885|MESH:C566817|UMLS:C1868576|SNOMEDCT:763127004
MONDO:0008207	chondromalacia patellae	biolink:Disease	mondo	COHD:81378|SCTID:36071006|ICD9:717.7|OMIM:168900|ICD10:M22.4|DOID:13357|Orphanet:1428|MESH:D046789|UMLS:C0008475	ordo_disease	chondromalacia patellae|familial chondromalacia patellae|patella, chondromalacia OF|patella chondromalacia|softening of articular cartilage of patella|chondromalacia of patella	http://purl.obolibrary.org/obo/MONDO_0008207	Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission.	http://identifiers.org/omim/168900|ORPHA:1428|UMLS:C0008475|DOID:13357|SNOMEDCT:36071006|MESH:D046789
MONDO:0011834	spinocerebellar ataxia type 18	biolink:Disease	mondo	UMLS:C4304848|ICD10:G11.8|OMIM:607458|MESH:C537197|UMLS:C1843884|DOID:0050969|Orphanet:98771|SCTID:719250005|GARD:0009976	ordo_disease	spinocerebellar ataxia 18|sensorimotor neuropathy with ataxia autosomal dominant|SCA18|SMNA|spinocerebellar ataxia 18; SCA18|sensorimotor neuropathy with ataxia, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0011834	Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by sensory neuropathy and cerebellar ataxia.	http://identifiers.org/omim/607458|ORPHA:98771|UMLS:C4304848|UMLS:C1843884|DOID:0050969|MESH:C537197|SNOMEDCT:719250005
MONDO:0008204	obsolete patella aplasia, coxa vara, and tarsal synostosis	biolink:Disease	mondo	OMIM:168850|MESH:C536307		patella aplasia, coxa vara, and tarsal synostosis	http://purl.obolibrary.org/obo/MONDO_0008204		http://identifiers.org/omim/168850|MESH:C536307
MONDO:0011833	spinocerebellar ataxia type 21	biolink:Disease	mondo	DOID:0050972|UMLS:C4305144|OMIM:607454|Orphanet:98773|MESH:C537200|SCTID:718774001|UMLS:C1843891|GARD:0009999|ICD10:G11.1	ordo_disease	spinocerebellar ataxia 21|spinocerebellar ataxia type 21|spinocerebellar ataxia 21; SCA21|SCA21	http://purl.obolibrary.org/obo/MONDO_0011833	Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.	ORPHA:98773|UMLS:C1843891|DOID:0050972|UMLS:C4305144|MESH:C537200|SNOMEDCT:718774001|http://identifiers.org/omim/607454
MONDO:0008205	patella aplasia/hypoplasia	biolink:Disease	mondo	MESH:C535568|ICD10:Q74.1|GARD:0008709|Orphanet:86789|OMIM:168860	ordo_morphological_anomaly	patella aplasia-hypoplasia; PTLAH|familial absence of the patella|patella aplasia-hypoplasia|PTLAH|absent patella|familial aplasia of the patella (subtype)	http://purl.obolibrary.org/obo/MONDO_0008205	Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date.	http://identifiers.org/omim/168860|ORPHA:86789|UMLS:C1868577|MESH:C535568
MONDO:0011836	thyroid Hurthle cell carcinoma	biolink:Disease	mondo	SCTID:423158009|OMIM:607464|GARD:0009428|MESH:C536913|ONCOTREE:THHC|DOID:8161		thyroid cancer, Hurthle cell|thyroid carcinoma, Hurthle cell|thyroid cancer, follicular, Hurthle cell type|Hurthle cell thyroid cancer|oncocytic carcinoma of the thyroid|Hurthle cell thyroid neoplasia|follicular thyroid cancer, Hurthle cell type	http://purl.obolibrary.org/obo/MONDO_0011836		http://identifiers.org/omim/607464|MESH:C536913|DOID:8161|SNOMEDCT:423158009
MONDO:0008202	Parotidomegaly, hereditary bilateral	biolink:Disease	mondo	MESH:C566821|OMIM:168800|UMLS:C1868590		Parotidomegaly, hereditary bilateral	http://purl.obolibrary.org/obo/MONDO_0008202		UMLS:C1868590|MESH:C566821|http://identifiers.org/omim/168800
MONDO:0011835	sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	biolink:Disease	mondo	OMIM:607459|Orphanet:70595|ICD10:G71.3|ICD10:G40.3|OMIM:613832|UMLS:C1843851|Orphanet:402082|GARD:0009998|DOID:0111276|UMLS:CN226157	ordo_disease	epilepsy, progressive myoclonic, 5, formerly|progressive myoclonus epilepsy type 5|spinocerebellar ataxia with epilepsy|epilepsy, progressive myoclonic, type 5|sensory ataxic neuropathy with mitochondrial DNA deletions, autosomal recessive|SANDO|sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; SANDO|epilepsy, progressive myoclonic, with sensory ataxic neuropathy|epilepsy, progressive myoclonic, 5|progressive myoclonic epilepsy caused by mutation in PRICKLE2|epilepsy, progressive myoclonic, 5; EPM5|PME type 5|EPM5|sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|PRICKLE2 progressive myoclonic epilepsy	http://purl.obolibrary.org/obo/MONDO_0011835	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.	MESH:C537583|http://identifiers.org/omim/607459|DOID:0111276|UMLS:C1843851|ORPHA:70595|ORPHA:402082|UMLS:CN226157|http://identifiers.org/omim/613832
MONDO:0008203	Passovoy factor defect	biolink:Disease	mondo	UMLS:C3149707|OMIM:168830		Passovoy factor defect	http://purl.obolibrary.org/obo/MONDO_0008203		http://identifiers.org/omim/168830|UMLS:C3149707
MONDO:0008200	autosomal dominant Parkinson disease 1	biolink:Disease	mondo	DOID:0060367|OMIM:168601|MESH:C566823		autosomal dominant Parkinson disease type 1|Parkinson disease 1, autosomal dominant Lewy body|atypical Parkinson disease|Parkinson disease 1, autosomal dominant; PARK1|autosomal dominant Parkinson's disease 1|PARK1|Parkinson disease 1, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008200		MESH:C566823|DOID:0060367|http://identifiers.org/omim/168601
MONDO:0011838	Bothnia retinal dystrophy	biolink:Disease	mondo	UMLS:C1843816|ICD10:H35.5|DOID:0050683|OMIM:607475|MESH:C564392|SCTID:715647007|Orphanet:85128	ordo_disease	Vasterbotten dystrophy|Västerbotten dystrophy|Bothnia retinal dystrophy|VC$sterbotten dystrophy	http://purl.obolibrary.org/obo/MONDO_0011838	Bothnia retinal dystrophy is a rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted.	ORPHA:85128|http://identifiers.org/omim/607475|SNOMEDCT:715647007|DOID:0050683|UMLS:C1843816|MESH:C564392
MONDO:0008201	Perry syndrome	biolink:Disease	mondo	OMIM:168605|SCTID:699184009|GARD:0010453|ICD9:348.89|DOID:0060486|Orphanet:178509|UMLS:C1868594|MESH:C566822	gard_rare|ordo_disease	parkinsonism with alveolar hypoventilation and mental depression|Perry syndrome|Parkinsonism with alveolar hypoventilation and mental depression	http://purl.obolibrary.org/obo/MONDO_0008201	Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression.	MESH:C566822|UMLS:C1868594|DOID:0060486|SNOMEDCT:699184009|ORPHA:178509|http://identifiers.org/omim/168605
MONDO:0011837	vitamin K-dependent clotting factors, combined deficiency of, type 2	biolink:Disease	mondo	MESH:C564393|OMIM:607473|UMLS:C1843832		vitamin K-dependent clotting factors, combined deficiency of, 2|VKORC1 congenital vitamin K-dependent coagulation factors combined deficiency|congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in VKORC1|vitamin K-dependent clotting factors, combined deficiency of, 2; VKCFD2|vitamin K-dependent clotting factors, combined deficiency of, 2|VKCFD2	http://purl.obolibrary.org/obo/MONDO_0011837	Any congenital vitamin K-dependent coagulation factors combined deficiency in which the cause of the disease is a mutation in the VKORC1 gene.	http://identifiers.org/omim/607473|UMLS:C1843832|MESH:C564393
MONDO:0011839	Newfoundland cone-rod dystrophy	biolink:Disease	mondo	DOID:0111015|MESH:C564391|OMIM:607476|UMLS:C1843815		RLBP1 cone-rod dystrophy|cone-rod dystrophy caused by mutation in RLBP1|Newfoundland ROD-cone dystrophy; NFRCD|NFRCD|Newfoundland ROD-cone dystrophy	http://purl.obolibrary.org/obo/MONDO_0011839	Any cone-rod dystrophy in which the cause of the disease is a mutation in the RLBP1 gene.	http://identifiers.org/omim/607476|DOID:0111015|UMLS:C1843815|MESH:C564391
HGNC:3374	EPAS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3374		
HGNC:3373	EP300	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3373		
MONDO:0011841	biotin-responsive basal ganglia disease	biolink:Disease	mondo	SCTID:703522009|Orphanet:65284|OMIM:607483|UMLS:C1843807|DOID:0050659|MESH:C537658|ICD9:333.99|ICD10:G25.8|GARD:0010237	ordo_disease	biotin-thiamine-responsive basal ganglia disease|basal ganglia disease, biotin-responsive|BTBGD|THMD2|BBGD|thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type); THMD2|thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type)|encephalopathy, thiamine-responsive	http://purl.obolibrary.org/obo/MONDO_0011841		SNOMEDCT:703522009|ORPHA:65284|MESH:C537658|http://identifiers.org/omim/607483|DOID:0050659|UMLS:C1843807
MONDO:0011840	dilated cardiomyopathy 1M	biolink:Disease	mondo	ICD10:I42.0|MESH:C564390|OMIM:607482|DOID:0110449|UMLS:C1843808		cardiomyopathy, dilated, 1M|CSRP3 familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, 1M; CMD1M|dilated cardiomyopathy type 1M|familial isolated dilated cardiomyopathy caused by mutation in CSRP3|CMD1M|cardiomyopathy, dilated, type 1M	http://purl.obolibrary.org/obo/MONDO_0011840	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene.	http://identifiers.org/omim/607482|UMLS:C1843808|MESH:C564390|DOID:0110449
MONDO:0011843	hypertrophic cardiomyopathy 25	biolink:Disease	mondo	OMIM:607487|UMLS:C1843791|MESH:C564388|DOID:0110328		Tcap hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, 25|cardiomyopathy, familial hypertrophic, 25; CMH25|hypertrophic cardiomyopathy caused by mutation in Tcap|hypertrophic cardiomyopathy caused by mutation in TCAP|CMH25|cardiomyopathy familial hypertrophic 25|cardiomyopathy, familial hypertrophic, type 25|TCAP hypertrophic cardiomyopathy|hypertrophic cardiomyopathy type 25	http://purl.obolibrary.org/obo/MONDO_0011843	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TCAP gene.	MESH:C564388|DOID:0110328|http://identifiers.org/omim/607487|UMLS:C1843791
MONDO:0011842	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions	biolink:Disease	mondo	DOID:0060672|OMIM:607485|ICD10:G31.0		frontotemporal dementia with Tdp43 inclusions, Grn-related|frontotemporal lobar degeneration with Tdp43 inclusions, Grn-related|frontotemporal dementia, ubiquitin-positive|frontotemporal lobar Degeneration with ubiquitin-positive inclusions|aphasia, primary progressive|dementia, hereditary dysphasic disinhibition|Ftld-TDP, Grn-related	http://purl.obolibrary.org/obo/MONDO_0011842	A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31.	DOID:0060672|http://identifiers.org/omim/607485
HGNC:3378	EPB41L1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3378		
HGNC:3377	EPB41	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3377		
MONDO:0011823	developmental malformations-deafness-dystonia syndrome	biolink:Disease	mondo	ICD10:Q87.8|OMIM:607371|Orphanet:79107|GARD:0009818|MESH:C537704|UMLS:C1846331	ordo_malformation_syndrome|gard_rare	DJO|juvenile-onset dystonia|dystonia, juvenile-onset|dystonia, juvenile-onset; DJO	http://purl.obolibrary.org/obo/MONDO_0011823	Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.	http://identifiers.org/omim/607371|MESH:C537704|ORPHA:79107|UMLS:C1846331
MONDO:0011822	Bartter disease type 3	biolink:Disease	mondo	Orphanet:93605|UMLS:C1846343|DOID:0110144|ICD10:E26.8|SCTID:700111000|OMIM:607364|GARD:0009659	ordo_clinical_subtype	Bartter syndrome, classic|Bartter syndrome classic|adult Bartter syndrome|Bartter syndrome, type 3; BARTS3|BARTS3|Bartter syndrome type III|Bartter syndrome, type 3, with hypocalciuria|Bartter syndrome type 3|classic Bartter syndrome|Bartter syndrome, type 3	http://purl.obolibrary.org/obo/MONDO_0011822	Classic Bartter syndrome is a type of Bartter syndrome, characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.	http://identifiers.org/omim/607364|DOID:0110144|SNOMEDCT:700111000|ORPHA:93605|UMLS:C1846343
MONDO:0011825	streptococcus, group A, severity of infection by	biolink:Disease	mondo	OMIM:607395		streptococcus, group A, severity of infection by	http://purl.obolibrary.org/obo/MONDO_0011825		http://identifiers.org/omim/607395
CL:0000988	hematopoietic cell	biolink:Cell	mondo	CALOHA:TS-2017|FMA:70366|FMA:83598|BTO:0000574		hemopoietic cell|haemopoietic cell|haematopoietic cell	http://purl.obolibrary.org/obo/CL_0000988	A cell of a hematopoietic lineage.	
MONDO:0011824	AUTS8	biolink:Disease	mondo	OMIM:607373	predisposition	AUTS2|autism, susceptibility to, 8|autism, susceptibility to, 8; AUTS8|AUTS8|AUTS2, formerly	http://purl.obolibrary.org/obo/MONDO_0011824		http://identifiers.org/omim/607373
MONDO:0011827	patent ductus arteriosus	biolink:Disease	mondo	NCIT:C84492|SCTID:83330001|ICD10:Q25.0|COHD:315922|MESH:D004374|DOID:13832|OMIMPS:607411|ICD9:747.0|GARD:0007342	prototype_pattern|gard_rare	ductus arteriosus, patent|patency of the ductus arteriosus|patent ductus botalli|PDA|patent ductus arteriosus familial (type)	http://purl.obolibrary.org/obo/MONDO_0011827	A congenital defect characterized by the failure of the ductus arteriosus to close soon after birth. As a consequence, blood from the aorta mixes with blood from the pulmonary artery. If untreated, it may lead to congestive heart failure.	DOID:13832|MESH:D004374|NCIT:C84492|SNOMEDCT:83330001
MONDO:0011826	glucocorticoid deficiency 2	biolink:Disease	mondo	NCIT:C123728|OMIM:607398|UMLS:C1846284		glucocorticoid deficiency type 2|glucocorticoid deficiency 2; GCCD2|MRAP familial glucocorticoid deficiency|familial glucocorticoid deficiency caused by mutation in MRAP|familial glucocorticoid deficiency 2|glucocorticoid deficiency 2|GCCD2	http://purl.obolibrary.org/obo/MONDO_0011826	Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MRAP gene.	http://identifiers.org/omim/607398|UMLS:C1846284|NCIT:C123728
MONDO:0011829	coenzyme Q10 deficiency, primary, 1	biolink:Disease	mondo	DOID:0070238|OMIM:607426|UMLS:C3551954		ubiquinone deficiency 1|coenzyme Q10 deficiency, primary, type 1|CoQ deficiency 1|Coq10 deficiency, primary, 1|coenzyme Q10 deficiency, primary, 1; COQ10D1|coenzyme Q10 deficiency caused by mutation in COQ2|coenzyme Q deficiency 1|COQ2 coenzyme Q10 deficiency|coenzyme Q10 deficiency, primary, 1|COQ10D1	http://purl.obolibrary.org/obo/MONDO_0011829	Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene.	http://identifiers.org/omim/607426|DOID:0070238|UMLS:C3551954
NCBITaxon:42862	Rickettsia felis	organism taxon	mondo	PMID:11321078|PMID:8904435|PMID:12508865|GC_ID:11		Rickettsia azadi	http://purl.obolibrary.org/obo/NCBITaxon_42862		
MONDO:0011828	intellectual disability, autosomal recessive 2	biolink:Disease	mondo	OMIM:607417|UMLS:C1843942|MESH:C564404		mental retardation, autosomal recessive type 2|intellectual disability, autosomal recessive 2; MRT2|CRBN autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive 2A|intellectual disability, autosomal recessive type 2|mental retardation, autosomal recessive 2|MRT2|autosomal recessive non-syndromic intellectual disability caused by mutation in CRBN|mental retardation, autosomal recessive 2; MRT2|intellectual disability, autosomal recessive 2A|intellectual disability, autosomal recessive 2	http://purl.obolibrary.org/obo/MONDO_0011828	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRBN gene.	http://identifiers.org/omim/607417|UMLS:C1843942|MESH:C564404
MONDO:0023809	Milner-Khallouf-Gibson syndrome	biolink:Disease	mondo	UMLS:C2931503|GARD:0003670|MESH:C537473	gard_rare	microcephaly, short stature, slow growth, beak nose, micrognathia, skin dyspigmentation and forearm and thumb dysplasia|Milner Khallouf Gibson syndrome	http://purl.obolibrary.org/obo/MONDO_0023809		MESH:C537473|UMLS:C2931503
UBERON:0007475	matrix-based tissue	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0007475	A tissue whose predominant feature is extracellular matrix which may or may not be highly hydrated or calcified.	
HGNC:3383	STOM	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3383		
CL:0000980	plasmablast	biolink:Cell	mondo	FMA:84371		CD27-positive, CD38-positive, CD20-negative B cell|CD20-negative B cell	http://purl.obolibrary.org/obo/CL_0000980	An activated mature (naive or memory) B cell that is secreting immunoglobulin, typified by being CD27-positive, CD38-positive, CD138-negative.	
MONDO:0011830	lissencephaly due to LIS1 mutation	biolink:Disease	mondo	Orphanet:95232|OMIM:607432|UMLS:CN228917|ICD10:Q04.3	ordo_disease	lissencephaly 1; LIS1|LIS1|lissencephaly 1|lissencephaly type 1|subcortical band heterotopia|subcortical laminar heterotopia|PAFAH1B1-related lissencephaly|lissencephaly sequence, isolated|lissencephaly, classic	http://purl.obolibrary.org/obo/MONDO_0011830	Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.	ORPHA:95232|UMLS:CN228917|http://identifiers.org/omim/607432
CL:0000981	double negative memory B cell	biolink:Cell	mondo			double negative memory B-cell|double negative memory B lymphocyte|double negative memory B-lymphocyte|dn memory B cell|dn memory B-cell|dn memory B lymphocyte|dn memory B-lymphocyte	http://purl.obolibrary.org/obo/CL_0000981	A memory B cell with the phenotype IgD-negative and CD27-negative.	
HGNC:3381	EPB42	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3381		
UBERON:0007473	lumen of epithelial sac	biolink:AnatomicalEntity	mondo			cavity of vesicle	http://purl.obolibrary.org/obo/UBERON_0007473	The space within an epithelial sphere.	
MONDO:0011832	autosomal dominant nonsyndromic deafness 44	biolink:Disease	mondo	UMLS:C1843895|DOID:0110569|OMIM:607453|ICD10:H90.3|MESH:C564399		autosomal dominant nonsyndromic deafness type 44|deafness, autosomal dominant 44; DFNA44|deafness, autosomal dominant 44|autosomal dominant deafness 44|autosomal dominant nonsyndromic deafness caused by mutation in CCDC50|deafness, autosomal dominant type 44|DFNA44|CCDC50 autosomal dominant nonsyndromic deafness	http://purl.obolibrary.org/obo/MONDO_0011832	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CCDC50 gene.	UMLS:C1843895|MESH:C564399|DOID:0110569|http://identifiers.org/omim/607453
MONDO:0011831	arrhythmogenic right ventricular dysplasia 8	biolink:Disease	mondo	OMIM:607450|ICD10:I42.8|DOID:0110076|UMLS:C1843896|MESH:C564400		ARVC8|arrhythmogenic right ventricular cardiomyopathy 8|arrhythmogenic right ventricular dysplasia, familial, 8|arrhythmogenic right ventricular dysplasia type 8|ARVD8|DSP arrhythmogenic right ventricular cardiomyopathy|arrhythmogenic right ventricular dysplasia, familial, 8; ARVD8|arrhythmogenic right ventricular dysplasia, familial, type 8|arrhythmogenic right ventricular cardiomyopathy caused by mutation in DSP|familial arrhythmogenic right ventricular dysplasia 8	http://purl.obolibrary.org/obo/MONDO_0011831	Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSP gene.	DOID:0110076|UMLS:C1843896|MESH:C564400|http://identifiers.org/omim/607450
CHEBI:15022	electron donor	biolink:ChemicalSubstance	mondo			Elektronendonator|donneur d'electron|electron donor	http://purl.obolibrary.org/obo/CHEBI_15022	A molecular entity that can transfer an electron to another molecular entity.	
MONDO:0023807	obsolete midphalangeal hair	biolink:Disease	mondo	OMIM:157200|MESH:C537471|GARD:0009992	gard_rare|not_a_disease	Middigital hair|midphalangeal hair	http://purl.obolibrary.org/obo/MONDO_0023807		MESH:C537471|http://identifiers.org/omim/157200
HGNC:3386	EPHA2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3386		
MONDO:0011819	spinocerebellar ataxia type 19/22	biolink:Disease	mondo	GARD:0012365|ICD10:G11.2|MESH:C542540|OMIM:607346|DOID:0050970|MESH:C537198|Orphanet:98772|SCTID:719251009	ordo_disease	spinocerebellar ataxia 19; SCA19|spinocerebellar ataxia 19|spinocerebellar ataxia 22|spinocerebellar ataxia type 19|SCA19|SCA19/22|spinocerebellar ataxia 19 and 22	http://purl.obolibrary.org/obo/MONDO_0011819	Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor.	UMLS:C1846367|SNOMEDCT:719251009|MESH:C537198|MESH:C542540|http://identifiers.org/omim/607346|ORPHA:98772|DOID:0050970
MONDO:0011812	Duane-radial ray syndrome	biolink:Disease	mondo	UMLS:CN206803|GARD:0009182|OMIM:607323|SCTID:699867001|ICD9:759.89|ICD10:Q87.8|DOID:0060747|Orphanet:959|Orphanet:93293|SCTID:720415006	gard_rare|ordo_malformation_syndrome	acrorenocular syndrome|Duane anomaly with radial ray abnormalities and deafness|DR syndrome|Duane-radial ray syndrome|Duane anomaly with radial abnormalities and deafness|Okihiro syndrome|acro-renal-ocular syndrome|DRRS	http://purl.obolibrary.org/obo/MONDO_0011812	A syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disc coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant.	http://identifiers.org/omim/607323|ORPHA:959|SNOMEDCT:699867001|DOID:0060747|UMLS:CN206803|SNOMEDCT:720415006|ORPHA:93293|UMLS:C1623209
MONDO:0011811	autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	biolink:Disease	mondo	UMLS:C1846492|OMIM:607317|DOID:0111611|ICD10:G11.1|Orphanet:95434|MESH:C537310|GARD:0004952	ordo_disease	spinocerebellar ataxia 24, formerly|spinocerebellar ataxia 24|spinocerebellar ataxia autosomal recessive 4|spinocerebellar ataxia, autosomal recessive 4|SCASI|spinocerebellar ataxia 24 (formerly)|spinocerebellar ataxia with saccadic Intrusions|spinocerebellar ataxia, autosomal recessive 4; SCAR4|SCAR4	http://purl.obolibrary.org/obo/MONDO_0011811	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome is a rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances.	MESH:C537310|http://identifiers.org/omim/607317|DOID:0111611|ORPHA:95434|UMLS:C1846492
GO:0040011	locomotion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0040011	Self-propelled movement of a cell or organism from one location to another.	
MONDO:0011814	Smith-McCort dysplasia 1	biolink:Disease	mondo	UMLS:C3888088|OMIM:607326		Smith-McCort dysplasia caused by mutation in DYM|SMC|Smc1|Smith-McCort dysplasia 1|Smith-McCort dysplasia type 1|SMITH-McCort dysplasia 1; Smc1|DYM Smith-McCort dysplasia	http://purl.obolibrary.org/obo/MONDO_0011814	Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the DYM gene.	http://identifiers.org/omim/607326|UMLS:C3888088
GO:0040012	regulation of locomotion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0040012	Any process that modulates the frequency, rate or extent of locomotion of a cell or organism.	
GO:0040013	negative regulation of locomotion	biolink:OntologyClass	mondo			downregulation of locomotion|down regulation of locomotion|inhibition of locomotion|down-regulation of locomotion	http://purl.obolibrary.org/obo/GO_0040013	Any process that stops, prevents, or reduces the frequency, rate or extent of locomotion of a cell or organism.	
MONDO:0011813	polydactyly, postaxial, type A3	biolink:Disease	mondo	OMIM:607324|MESH:C564590|UMLS:C1846452		polydactyly, postaxial, type A3; PAPA3|Papa3|polydactyly, postaxial, type A3|postaxial polydactyly, type A3	http://purl.obolibrary.org/obo/MONDO_0011813		http://identifiers.org/omim/607324|MESH:C564590|UMLS:C1846452
MONDO:0011816	lathosterolosis	biolink:Disease	mondo	ICD10:Q87.8|SCTID:719257008|Orphanet:46059|UMLS:C1846421|MESH:C537880|GARD:0009711|OMIM:607330	ordo_disease|gard_rare	Sc5D deficiency|sterol C5-desaturase deficiency|lathosterolosis	http://purl.obolibrary.org/obo/MONDO_0011816	Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.	http://identifiers.org/omim/607330|MESH:C537880|SNOMEDCT:719257008|ORPHA:46059|UMLS:C1846421
MONDO:0011815	hypertension, essential, susceptibility to, 3	biolink:Disease	mondo	UMLS:C1846430|OMIM:607329	predisposition	hypertension, essential, susceptibility to, 3|hypertension, essential, susceptibility to, type 3|Hyt3	http://purl.obolibrary.org/obo/MONDO_0011815		http://identifiers.org/omim/607329|UMLS:C1846430
MONDO:0011818	isolated focal cortical dysplasia type II	biolink:Disease	mondo	GARD:0010190|ICD10:Q04.8|OMIM:607341|Orphanet:268994|MESH:C537067	gard_rare|ordo_clinical_subtype	focal cortical dysplasia of Taylor, type 2B|cortical dysplasia of Taylor with balloon cells|focal cortical dysplasia, type II; FCORD2|focal cortical dysplasia of Taylor, type 2A|focal cortical dysplasia, type 2|CDT|focal cortical dysplasia, type 2B|isolated focal cortical dysplasia type 2|focal cortical dysplasia of Taylor; FCDT|focal cortical dysplasia, type 2A|cortical dysplasia of Taylor, dysplasia only|FCORD2|cortical dysplasia of Taylor without balloon cells|Fcd2|FCD type II|focal cortical dysplasia type 2|FCDT|FCD 2B|cortical dysplasia, Taylor type|focal cortical dysplasia of Taylor|focal cortical dysplasia type II|FCD 2A|cortical dysplasia of Taylor	http://purl.obolibrary.org/obo/MONDO_0011818		MESH:C537067|http://identifiers.org/omim/607341|ORPHA:268994
MONDO:0011817	coronary heart disease, susceptibility to, 1	biolink:Disease	mondo	OMIM:607339|UMLS:C1846418	predisposition	coronary heart disease, susceptibility to, 1|CX3CR1 coronary artery disease|coronary artery disease caused by mutation in CX3CR1|coronary heart disease, susceptibility to, type 1|Chds1	http://purl.obolibrary.org/obo/MONDO_0011817	Any coronary artery disease in which the cause of the disease is a mutation in the CX3CR1 gene.	UMLS:C1846418|http://identifiers.org/omim/607339
GO:0040019	positive regulation of embryonic development	biolink:OntologyClass	mondo			up regulation of embryonic development|activation of embryonic development|stimulation of embryonic development|upregulation of embryonic development|up-regulation of embryonic development	http://purl.obolibrary.org/obo/GO_0040019	Any process that activates or increases the frequency, rate or extent of embryonic development.	
HGNC:3395	EPHB4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3395		
CL:0000990	conventional dendritic cell	biolink:Cell	mondo	FMA:84191		dendritic reticular cell|interdigitating cell|veiled cell|type 1 DC|DC1|cDC	http://purl.obolibrary.org/obo/CL_0000990	Conventional dendritic cell is a dendritic cell that is CD11c-high.	
HGNC:3393	EPHB2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3393		
MONDO:0011821	Meckel syndrome, type 3	biolink:Disease	mondo	UMLS:C1846357|ICD10:Q61.9|OMIM:607361|GARD:0008744|MESH:C536132|DOID:0070117	gard_rare	Meckel syndrome 3|Meckel syndrome type 3|Meckel syndrome caused by mutation in TMEM67|Meckel syndrome, type 3|MKS3|TMEM67 Meckel syndrome|Meckel-Gruber syndrome, type 3|Meckel syndrome, type 3; MKS3	http://purl.obolibrary.org/obo/MONDO_0011821	Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM67 gene.	http://identifiers.org/omim/607361|MESH:C536132|DOID:0070117|UMLS:C1846357
CL:0000995	CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor	biolink:Cell	mondo			CD71-positive common myeloid precursor OR CD7-negative lymphoid precursor OR CD7-positive lymphoid	http://purl.obolibrary.org/obo/CL_0000995		
GO:0040017	positive regulation of locomotion	biolink:OntologyClass	mondo			up-regulation of locomotion|activation of locomotion|upregulation of locomotion|stimulation of locomotion|up regulation of locomotion	http://purl.obolibrary.org/obo/GO_0040017	Any process that activates or increases the frequency, rate or extent of locomotion of a cell or organism.	
MONDO:0011820	scoliosis, isolated, susceptibility to, 2	biolink:Disease	mondo	OMIM:607354	predisposition	IS2|scoliosis, isolated, susceptibility to, 2; IS2|scoliosis, isolated, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0011820		http://identifiers.org/omim/607354
MONDO:0023873	obsolete Noonan-like/multiple giant cell lesion syndrome	biolink:Disease	mondo	OMIM:163955|GARD:0004006	gard_rare	NL/MGCLS	http://purl.obolibrary.org/obo/MONDO_0023873	Noonan-like/multiple giant cell lesion syndrome (NS/MGCLS) is a term used to describe a subgroup of people with Noonan syndrome who also have giant cell lesions (benign tumor-like lesions that most frequently occur in the jaws but may also affect other bones or soft tissues) and resemble individuals who have cherubism. Although NS/MGCLS was once believed to be a separate condition, it is now known to bepart of the Noonan syndrome spectrum. Mutations in the PTPN11 and SOS1 genes have been associated with NS/MGCLS; however, mutations in these genes do not always cause giant cell lesions. One family with NS/MGCLS has been found to have a mutation in the PTPN11 gene butno giant cell lesions, suggesting that other genetic factors may be involved in leading to giant cell development. Multiple giant cell lesions associated with NS may resolve after puberty with variable restoration of the facial structure.	http://identifiers.org/omim/163955
MONDO:0008239	phosphoglucomutase 4	biolink:Disease	mondo	OMIM:172110		phosphoglucomutase type 4|Pgm4|phosphoglucomutase 4|milk PGM	http://purl.obolibrary.org/obo/MONDO_0008239		http://identifiers.org/omim/172110
NCBITaxon:5302	Agaricomycotina	organism taxon	mondo	GC_ID:1		Hymenomycetes	http://purl.obolibrary.org/obo/NCBITaxon_5302		
MONDO:0011889	Charcot-Marie-Tooth disease type 2I	biolink:Disease	mondo	ICD10:G60.0|Orphanet:99942|SCTID:717013009|GARD:0009197|OMIM:607677|UMLS:CN207466|DOID:0110158	ordo_disease|gard_rare	Charcot-Marie-Tooth neuropathy, type 2I|Charcot Marie Tooth disease type 2I|CMT2I|CMT 2I|autosomal dominant Charcot-Marie-Tooth disease type 2I|Charcot-Marie-Tooth neuropathy type 2I|Charcot-Marie-Tooth disease, axonal, type 2I|Charcot-Marie-Tooth disease, axonal, type 2I; CMT2I	http://purl.obolibrary.org/obo/MONDO_0011889	Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes.	ORPHA:99942|http://identifiers.org/omim/607677|DOID:0110158|UMLS:CN207466|SNOMEDCT:717013009
MONDO:0021215		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021215		
MONDO:0008237	phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome	biolink:Disease	mondo	Orphanet:2878|MESH:C537498|OMIM:171480|GARD:0004323|UMLS:C1868390|ICD10:Q87.2	ordo_malformation_syndrome	phocomelia-ectrodactyly, EAR malformation, deafness, and sinus arrhythmia|Stoll-LC)vy-Francfort syndrome|Stoll-levy-Francfort syndrome|facioauriculoradial dysplasia|phocomelia ectrodactyly deafness sinus arrhythmia|Stoll-Lévy-Francfort syndrome	http://purl.obolibrary.org/obo/MONDO_0008237	Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterised by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families.	http://identifiers.org/omim/171480|ORPHA:2878|MESH:C537498|UMLS:C1868390
MONDO:0011888	immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency	biolink:Disease	mondo	OMIM:610799|MESH:C563662|ICD10:D84.8|MESH:C564352|OMIM:607676|Orphanet:70592|GARD:0010311|UMLS:C1843256|UMLS:C1835828	ordo_disease	IRAK4D|IRAK-4 deficiency|Interleukin receptor-associated kinase deficiency|invasive pneumococcal disease, recurrent isolated, 1; IPD1|IRAK4 deficiency|invasive pneumococcal disease, recurrent isolated, type 1|invasive pneumococcal disease, protection against|IPD1|invasive pneumococcal disease, recurrent isolated, 1	http://purl.obolibrary.org/obo/MONDO_0011888	An immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria.	UMLS:C1835828|UMLS:C1843256|http://identifiers.org/omim/607676|MESH:C564352|http://identifiers.org/omim/610799|ORPHA:70592|MESH:C563662
MONDO:0008238	phosphatase, acid, of tissues	biolink:Disease	mondo	OMIM:171660		Acp3--Alpha polypeptide|phosphatase, acid, of tissues|lysosomal acid phosphatase	http://purl.obolibrary.org/obo/MONDO_0008238		http://identifiers.org/omim/171660
MONDO:0021214		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021214		
MONDO:0008235	pheochromocytoma-islet cell tumor syndrome	biolink:Disease	mondo	MESH:C566807|GARD:0004321|OMIM:171420|UMLS:C1868392	gard_rare	pheochromocytoma and islet cell tumor of the pancreas|pheochromocytoma--islet cell tumor syndrome|pheochromocytoma-islet cell tumor syndrome	http://purl.obolibrary.org/obo/MONDO_0008235		http://identifiers.org/omim/171420|UMLS:C1868392|MESH:C566807
MONDO:0021213		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021213		
MONDO:0008236	phlebectasia of lips	biolink:Disease	mondo	MESH:C566806|OMIM:171450|UMLS:C1868391		phlebectasia of lips	http://purl.obolibrary.org/obo/MONDO_0008236		http://identifiers.org/omim/171450|UMLS:C1868391|MESH:C566806
MONDO:0021211	brain neoplasm	biolink:Disease	mondo	COHD:373724|NCIT:C2907		tumor of brain|neoplasm of the brain|brain neoplasms|neoplasm of brain|brain tumor|tumor of the Brain|brain neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0021211	A neoplasm (disease) that involves the brain.	NCIT:C2907
MONDO:0008233	phaeochromocytoma	biolink:Disease	mondo	OMIM:171300|DOID:0050771|ONCOTREE:PHC		pheochromocytoma|pheochromocytoma, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0008233		http://identifiers.org/omim/171300|DOID:0050771
MONDO:0021210	trachea neoplasm	biolink:Disease	mondo	EFO:1001437|MESH:D014134|GTR:AN0481062|UMLS:C0040582|NCIT:C3419|GTR:AN0505660|HP:0100551		neoplasm of the trachea|tumor of trachea|tracheal neoplasm|neoplasm of trachea|tumor of the trachea|trachea neoplasm (disease)|trachea tumor|tracheal neoplasm|tracheal tumor	http://purl.obolibrary.org/obo/MONDO_0021210	A neoplasm (disease) that involves the trachea.	NCIT:C3419|MESH:D014134|UMLS:C0040582
MONDO:0008234	multiple endocrine neoplasia type 2A	biolink:Disease	mondo	ICD10:E31.22|DOID:0050430|UMLS:C0025268|GARD:0004881|MESH:D018813|NCIT:C3226|ICD9:258.02|SCTID:721188000|ICD10:D44.8|Orphanet:247698|OMIM:171400	ordo_clinical_subtype|gard_rare	MEN2A|multiple endocrine neoplasia, type II|ptc syndrome|multiple endocrine adenomatosis, type II|multiple endocrine adenomatosis type II|thyroid carcinoma, familial medullary|men-2A syndrome|multiple endocrine adenomatosis type 2A|multiple endocrine adenomatosis type 2a|MEN2A|multiple endocrine neoplasia type II|multiple endocrine neoplasia type 2A|Sipple syndrome|MEA type II|multiple endocrine neoplasia II|MEA type 2a|pheochromocytoma and amyloid-producing medullary thyroid carcinoma|pheochromocytoma and amyloid producing medullary thyroid carcinoma|multiple endocrine neoplasia, type IIA; MEN2A|men type II|multiple endocrine neoplasia, type 2A|men type 2a|multiple endocrine neoplasia, type IIA|men 2A	http://purl.obolibrary.org/obo/MONDO_0008234	Multiple endocrine neoplasia 2A (MEN2A) syndrome is a form of MEN2 characterized by medullary thyroid carcinoma (MTC) in combination with pheochromocytoma and primary mild hyperparathyroidism resulting from hyperplasia or adenoma of the parathyroid cells.	SNOMEDCT:721188000|ORPHA:247698|MESH:D018813|NCIT:C3226|http://identifiers.org/omim/171400|UMLS:C0025268|DOID:0050430
MONDO:0008231	Peyronie disease	biolink:Disease	mondo	ICD10:N48.6|ICD9:607.85|UMLS:C0030848|DOID:8616|COHD:196157|OMIM:171000		Induratio penis plastica|Peyronie's disease|Peyronie's fibromatosis|Peyronie disease	http://purl.obolibrary.org/obo/MONDO_0008231	A condition characterized by hardening of the penis due to the formation of fibrous plaques on the dorsolateral aspect of the penis, usually involving the membrane (tunica albuginea) surrounding the erectile tissue (corpus cavernosum penis). This may eventually cause a painful deformity of the shaft or constriction of the urethra, or both.	DOID:8616|http://identifiers.org/omim/171000|UMLS:C0030848
MONDO:0008232	phagocytosis, plasma-related defect 1N	biolink:Disease	mondo	UMLS:C1868402|MESH:C566808|OMIM:171100		phagocytosis, plasma-RELATED defect IN|phagocytosis, plasma-related defect type 1N	http://purl.obolibrary.org/obo/MONDO_0008232		http://identifiers.org/omim/171100|UMLS:C1868402|MESH:C566808
GO:0040020	regulation of meiotic nuclear division	biolink:OntologyClass	mondo			regulation of meiosis	http://purl.obolibrary.org/obo/GO_0040020	Any process that modulates the frequency, rate or extent of meiotic nuclear division, the process in which the nucleus of a diploid cell divides twice forming four haploid cells, one or more of which usually function as gametes.	
MONDO:0011892	epilepsy, idiopathic generalized, susceptibility to, 9	biolink:Disease	mondo	DOID:0111323|OMIM:607682	predisposition	EIG9|epilepsy, idiopathic generalized, susceptibility to, type 9|susceptibility to idiopathic generalized epilepsy 9|epilepsy, idiopathic generalized, susceptibility to, 9; EIG9|CACNB4 generalised epilepsy|epilepsy, juvenile myoclonic, susceptibility to, 6|epilepsy, idiopathic generalized, susceptibility to, 9|generalised epilepsy caused by mutation in CACNB4	http://purl.obolibrary.org/obo/MONDO_0011892	Any generalised epilepsy in which the cause of the disease is a mutation in the CACNB4 gene.	http://identifiers.org/omim/607682|DOID:0111323
MONDO:0011891	febrile seizures, familial, 8	biolink:Disease	mondo	UMLS:C1843244|OMIM:611277|UMLS:C1858674|DOID:0111298|OMIM:607681|MESH:C565811	predisposition	GEFSP3|childhood absence epilepsy caused by mutation in GABRG2|GABRG2 childhood absence epilepsy|susceptibility to childhood absence epilepsy 2|generalized epilepsy with febrile seizures plus caused by mutation in GABRG2|GABRG2 generalized epilepsy with febrile seizures plus|generalized epilepsy with febrile seizures plus, type 3; GEFSP3|epilepsy, childhood absence, susceptibility to, 2; ECA2|Gefs+, type 3|ECA2|generalized epilepsy with febrile seizures plus, type 3|epilepsy, childhood absence, susceptibility to, 2|epilepsy, childhood absence, susceptibility to, type 2	http://purl.obolibrary.org/obo/MONDO_0011891	A childhood absence epilepsy that is characterized by mutations in the GABRG2 gene, which cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype.	UMLS:C1858674|http://identifiers.org/omim/611277|UMLS:C1843244|http://identifiers.org/omim/607681|DOID:0111298|MESH:C565811
MONDO:0008230	peroxidase, salivary	biolink:Disease	mondo	OMIM:170990		SAPX|peroxidase, salivary|peroxidase, salivary; SAPX	http://purl.obolibrary.org/obo/MONDO_0008230		http://identifiers.org/omim/170990
MONDO:0011894	Charcot-Marie-Tooth disease type 2E	biolink:Disease	mondo	Orphanet:99939|OMIM:607684|SCTID:717012004|GARD:0009193|MESH:C537994|NCIT:C134953|ICD10:G60.0|DOID:0110165	gard_rare|ordo_disease	CMT 2E|Charcot Marie Tooth disease type 2E|Charcot-Marie-Tooth disease type 2 caused by mutation in NEFL|Charcot-Marie-Tooth disease, axonal, type 2E; CMT2E|Charcot-Marie-Tooth disease, axonal, type 2E|Charcot-Marie-Tooth neuropathy type 2E|CMT2E|autosomal dominant Charcot-Marie-Tooth disease type 2E|Charcot-Marie-Tooth neuropathy, type 2E|NEFL Charcot-Marie-Tooth disease type 2	http://purl.obolibrary.org/obo/MONDO_0011894	Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.	NCIT:C134953|ORPHA:99939|http://identifiers.org/omim/607684|MESH:C537994|DOID:0110165|SNOMEDCT:717012004
MONDO:0021209	heart neoplasm	biolink:Disease	mondo	NCIT:C3081|GARD:0002619|EFO:1001339	gard_rare	primary cardiac tumors, childhood|heart neoplasm (disease)|Cardiac neoplasms|neoplasm of the heart|tumor of heart|myocardial tumors (rhabdomyomas and fibromas)|neoplasm of heart|tumor of the heart|heart tumor|Intracavitary tumors|Cardiac neoplasm|Cardiac tumor	http://purl.obolibrary.org/obo/MONDO_0021209	A neoplasm (disease) that involves the heart.	NCIT:C3081
MONDO:0011893	autosomal dominant nonsyndromic deafness 52	biolink:Disease	mondo	MESH:C564348|ICD10:H90.3|DOID:0110578|UMLS:C1843232|OMIM:607683		autosomal dominant nonsyndromic deafness type 52|deafness, autosomal dominant 52|autosomal dominant deafness 52|deafness, autosomal dominant 52; DFNA52|DFNA52|deafness, autosomal dominant 42	http://purl.obolibrary.org/obo/MONDO_0011893	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.1-q32.	UMLS:C1843232|http://identifiers.org/omim/607683|MESH:C564348|DOID:0110578
MONDO:0021208	endocrine alopecia	biolink:Disease	mondo	SCTID:54539003|ICD9:704.09|UMLS:C0002176			http://purl.obolibrary.org/obo/MONDO_0021208		SNOMEDCT:54539003|UMLS:C0002176
MONDO:0011896	Parkinson disease 11, autosomal dominant, susceptibility to	biolink:Disease	mondo	MESH:C564345|OMIM:607688|UMLS:C1843211	predisposition	Parkinson disease 11, autosomal dominant, susceptibility to; PARK11|Parkinson disease 11, autosomal dominant, susceptibility to|PARK11|GIGYF2 hereditary late onset Parkinson disease|susceptibility to autosomal dominant Parkinson disease 11|hereditary late onset Parkinson disease caused by mutation in GIGYF2	http://purl.obolibrary.org/obo/MONDO_0011896	Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the GIGYF2 gene.	UMLS:C1843211|http://identifiers.org/omim/607688|MESH:C564345
MONDO:0011895	idiopathic hypereosinophilic syndrome	biolink:Disease	mondo	ICD10:D47.5|OMIM:607685|SCTID:423294001|Orphanet:3260|UMLS:C0206141	ordo_disease	hypereosinophilic syndrome, idiopathic; HES|hypereosinophilic syndrome, idiopathic|HES	http://purl.obolibrary.org/obo/MONDO_0011895		SNOMEDCT:423294001|UMLS:C0206141|http://identifiers.org/omim/607685|ORPHA:3260
MONDO:0021207	Crohn jejunitis	biolink:Disease	mondo	SCTID:91390005|UMLS:C0267379			http://purl.obolibrary.org/obo/MONDO_0021207	An Crohn disease involving a pathogenic inflammatory response in the jejunum.	SNOMEDCT:91390005|UMLS:C0267379
MONDO:0021206	chronic non-suppurative otitis media	biolink:Disease	mondo	SCTID:232254004|COHD:376425|ICD9:381.3|UMLS:C0395869		non-suppurative otitis media, chronic	http://purl.obolibrary.org/obo/MONDO_0021206	Chronic form of non-suppurative otitis media.	UMLS:C0395869|SNOMEDCT:232254004
CL:0000961	Bm1 B cell	biolink:Cell	mondo			Bm1 B-lymphocyte|Bm1 B-cell|Bm1 B lymphocyte	http://purl.obolibrary.org/obo/CL_0000961	A follicular B cell that is IgD-positive, CD23-negative, and CD38-negative. This naive cell type is activated in the extrafollicular areas through interaction with interdigitating dendritic cells and antigen-specific CD4-positive T cells.	
MONDO:0011898	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive	biolink:Disease	mondo	OMIM:607706|UMLS:C1843183		Charcot-Marie-Tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive|CMT2 with vocal cord paresis, autosomal recessive|Charcot-Marie-Tooth disease, type 4A, axonal form|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0011898		UMLS:C1843183|http://identifiers.org/omim/607706
MONDO:0011897	leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	biolink:Disease	mondo	ICD10:E75.2|SCTID:721846006|DOID:0060794|Orphanet:137639|OMIM:607694|ICD10:G11.1	ordo_disease	hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome|leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome|HLD7|ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy|leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; HLD7|leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|ataxia, delayed dentition, and hypomyelination|hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome|4H syndrome|leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism|tach syndrome|hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism|ataxia-delayed dentition-hypomyelination syndrome|dentoleukoencephalopathy|tremor-ataxia-central hypomyelination syndrome|leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition|leukodystrophy with oligodontia	http://purl.obolibrary.org/obo/MONDO_0011897	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome is characterised by ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far, eight cases have been described.	ORPHA:137639|SNOMEDCT:721846006|http://identifiers.org/omim/607694|DOID:0060794
CL:0000962	Bm2 B cell	biolink:Cell	mondo			Bm2 B-cell|Bm2 B lymphocyte|Bm2 B-lymphocyte	http://purl.obolibrary.org/obo/CL_0000962	A follicular B cell that is IgD-positive and CD23-positive and CD38-positive. This naive cell type is activated in the extrafollicular areas via interaction with dendritic cells and antigen specific T cells.	
MONDO:0021205	disease of ear	biolink:Disease	mondo	UMLS:C0013447|SCTID:25906001|NCIT:C26757|COHD:378161|ICD9:388.9|ICD9:388.8		Ear disease|ear disease|disorder of ear|disease or disorder of ear|Ear disorder|disease of ear|ear disease or disorder|disorder of ear	http://purl.obolibrary.org/obo/MONDO_0021205	A disease that involves the ear.	NCIT:C26757|SNOMEDCT:25906001|UMLS:C0013447
MONDO:0023868	melanoma associated retinopathy	biolink:Disease	mondo	UMLS:C0730308|GARD:0012041|SCTID:312941005	gard_rare	Melanoma-associated retinopathy|Melanoma-Associated Retinopathies|Retinopathies, Melanoma-Associated|Retinopathy, Melanoma-Associated|Melanoma Associated Retinopathy|Melanoma associated retinopathy|Melanoma-Associated Retinopathy	http://purl.obolibrary.org/obo/MONDO_0023868	Melanoma-associated retinopathy (MAR) is a rare autoimmune condition that occurs in some people with melanoma (a type of skin cancer) and can affect the vision.	UMLS:C0730308|SNOMEDCT:312941005
MONDO:0011890	Charcot-Marie-Tooth disease type 1D	biolink:Disease	mondo	ICD10:G60.0|MESH:C537985|DOID:0110150|UMLS:C1843247|SCTID:719979008|OMIM:607678|GARD:0009189|Orphanet:101084	ordo_disease|gard_rare	Charcot-Marie-Tooth neuropathy type 1D|Charcot-Marie-Tooth disease, demyelinating, type 1D|Charcot-Marie-Tooth neuropathy, type 1D|EGR2 Charcot-Marie-Tooth disease type 1|hereditary motor and sensory neuropathy 1D|HMSN 1D|CMT1D|Charcot Marie Tooth disease type 1D|CMT 1D|Charcot-Marie-Tooth disease, demyelinating, type 1D; CMT1D|HMSN1D|Charcot-Marie-Tooth disease type 1 caused by mutation in EGR2|HMSN1D|HMSN ID	http://purl.obolibrary.org/obo/MONDO_0011890	A form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis.	UMLS:C1843247|http://identifiers.org/omim/607678|MESH:C537985|DOID:0110150|SNOMEDCT:719979008|ORPHA:101084
MONDO:0023865	corneal infection	biolink:Disease	mondo	Orphanet:519278|NCIT:C83813|UMLS:C0729777|SCTID:312428002	ordo_group_of_disorders	infective keratitis|infection of cornea|keratitis caused by infection|corneal infection	http://purl.obolibrary.org/obo/MONDO_0023865	A viral or bacterial infectious process affecting the cornea. Symptoms include pain and redness in the eye, photophobia and eye watering.	NCIT:C83813|SNOMEDCT:312428002|ORPHA:519278|UMLS:C0729777
MONDO:0011878	Worth syndrome	biolink:Disease	mondo	SCTID:254131007|GARD:0009488|OMIM:607636|DOID:0080037		Worth syndrome|VBCH2|osteosclerosis of the skull and enlarged mandible|Worth's syndrome|autosomal dominant osteosclerosis|Van Buchem disease type 2|Van Buchem disease, type 2|autosomal dominant endosteal hyperostosis|benign form of Worth hyperostosis corticalis generalisata with torus platinus	http://purl.obolibrary.org/obo/MONDO_0011878	A hyperostosis that has material basis in a mutation in the LRP5 gene which results in increased bone density and bony structures located in palate.	SNOMEDCT:254131007|DOID:0080037|http://identifiers.org/omim/607636
MONDO:0008248	pigmented purpuric eruption	biolink:Disease	mondo	UMLS:C0406515|SCTID:20343006|MESH:C537186|GARD:0007609|OMIM:172900		Schamberg disease|progressive pigmented purpura|pigmented purpuric eruption|pigmented purpuric dermatosis|Schamberg purpura|familial pigmented purpuric eruption|pigmented purpura	http://purl.obolibrary.org/obo/MONDO_0008248		SNOMEDCT:20343006|MESH:C537186|UMLS:C0406515|http://identifiers.org/omim/172900
MONDO:0021204	chronic otitis media	biolink:Disease	mondo	UMLS:C0271441|ICD9:381.3|SCTID:21186006		otitis media (disease), chronic|chronic otitis media (disease)	http://purl.obolibrary.org/obo/MONDO_0021204	Chronic form of otitis media (disease).	SNOMEDCT:21186006|UMLS:C0271441
MONDO:0011877	autosomal dominant osteopetrosis 1	biolink:Disease	mondo	UMLS:C1843330|Orphanet:2783|OMIM:607634|MESH:C536056|DOID:0110937|ICD10:Q78.2|GARD:0004151	ordo_malformation_syndrome	osteopetrosis, autosomal dominant 1|autosomal dominant osteopetrosis type 1|osteopetrosis, autosomal dominant 1; OPTA1|osteopetrosis autosomal dominant type 1|osteopetrosis (disease) caused by mutation in LRP5|osteopetrosis, autosomal dominant type 1|LRP5 osteopetrosis (disease)|osteopetrosis, autosomal dominant, type 1|OPTA1	http://purl.obolibrary.org/obo/MONDO_0011877	Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.	ORPHA:2783|MESH:C536056|UMLS:C1843330|http://identifiers.org/omim/607634|UMLS:C2931097|DOID:0110937
MONDO:0021203	serous otitis media	biolink:Disease	mondo	SCTID:80327007		otitis media with effusion|secretory otitis media|SOM	http://purl.obolibrary.org/obo/MONDO_0021203		SNOMEDCT:80327007
MONDO:0008249	pilonidal sinus (disease)	biolink:Disease	mondo	MESH:D010864|OMIM:173000|SCTID:47639008|HP:0010769		pilonidal sinus	http://purl.obolibrary.org/obo/MONDO_0008249	A hair-containing cyst or sinus, occurring chiefly in the coccygeal region.	MESH:D010864|http://identifiers.org/omim/173000|SNOMEDCT:47639008
MONDO:0008246	pigmented paravenous retinochoroidal atrophy	biolink:Disease	mondo	SCTID:723450004|OMIM:172870|DOID:0111541|MESH:C566801|UMLS:C1868310|Orphanet:251295|ICD10:H35.5	ordo_disease	PPRCA|pigmented paravenous chorioretinal atrophy; PPCRA|pigmented paravenous chorioretinal atrophy|PPCRA	http://purl.obolibrary.org/obo/MONDO_0008246	Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision.	ORPHA:251295|SNOMEDCT:723450004|http://identifiers.org/omim/172870|UMLS:C1868310|MESH:C566801|DOID:0111541
MONDO:0021202	allergic otitis media	biolink:Disease	mondo	SCTID:26169004|UMLS:C0271447		allergic form of otitis media (disease)|allergic otitis media (disease)	http://purl.obolibrary.org/obo/MONDO_0021202	A otitis media (disease) with a basis in a pathological type I hypersensitivity reaction.	UMLS:C0271447|SNOMEDCT:26169004
GO:0042697	menopause	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0042697	Cessation of menstruation, occurring in (e.g.) the human female usually around the age of 50.	
MONDO:0021201	skin infection	biolink:Disease	mondo	UMLS:C0037278|NCIT:C35025|SCTID:19824006		skin infection	http://purl.obolibrary.org/obo/MONDO_0021201	An inflammatory process affecting the skin, caused by bacteria, viruses, parasites, or fungi. Examples of bacterial infection include carbuncles, furuncles, impetigo, erysipelas, and abscesses. Examples of viral infection include shingles, warts, molluscum contagiosum, and pityriasis rosea. Examples of parasitic infection include scabies and lice. Examples of fungal infection include athlete's foot, yeast infection, and ringworm.	NCIT:C35025|UMLS:C0037278|SNOMEDCT:19824006
MONDO:0008247	robin sequence-oligodactyly syndrome	biolink:Disease	mondo	OMIM:172880|GARD:0004729|UMLS:C1868309|ICD10:Q87.0|MESH:C535688|Orphanet:3104	ordo_malformation_syndrome	Pierre Robin sequence-oligodactyly syndrome|Robin sequence and oligodactyly|Pierre Robin syndrome and oligodactyly	http://purl.obolibrary.org/obo/MONDO_0008247	Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986.	MESH:C535688|ORPHA:3104|http://identifiers.org/omim/172880|UMLS:C1868309
MONDO:0011879	neuronopathy, distal hereditary motor, type 7B	biolink:Disease	mondo	DOID:0111202|OMIM:607641|UMLS:C1843315|MESH:C564362		neuronopathy, distal hereditary motor, type VIIB|DCTN1 neuronopathy, distal hereditary motor|HMN7B|HMN 7B|neuronopathy, distal hereditary motor caused by mutation in DCTN1|neuronopathy, distal hereditary motor, type VIIB; HMN7B|Dhmn7B|Lower motor neuron disease, dynactin type|neuropathy, distal hereditary motor, with vocal cord paralysis, type 7B|neuropathy, distal hereditary motor, type 7B	http://purl.obolibrary.org/obo/MONDO_0011879	Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the DCTN1 gene.	DOID:0111202|UMLS:C1843315|http://identifiers.org/omim/607641|MESH:C564362
MONDO:0008244	piebaldism	biolink:Disease	mondo	GARD:0004344|Orphanet:2884|DOID:3263|ICD10:E70.39|UMLS:C0080024|SCTID:6479008|MESH:D016116|OMIM:172800|ICD9:270.2|ICD10:E70.3|NCIT:C85009	gard_rare|ordo_disease	partial albinism|PBT|piebald trait|piebald trait; PBT|piebaldism	http://purl.obolibrary.org/obo/MONDO_0008244	Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.	UMLS:C0080024|MESH:D016116|http://identifiers.org/omim/172800|ORPHA:2884|SNOMEDCT:6479008|DOID:3263|NCIT:C85009
MONDO:0021200	obsolete rare disease	biolink:Disease	mondo	NCIT:C4873|MESH:D035583	obsoletion_candidate	rare disorder|rare disease|rare disease or disorder|rare diseases	http://purl.obolibrary.org/obo/MONDO_0021200	Any of the forms of disease that have a rare incidence.	NCIT:C4873|MESH:D035583
CL:0000979	IgG memory B cell	biolink:Cell	mondo			memory IgG B cell|IgG memory B-cell|IgG memory B lymphocyte|memory IgG B-cell|memory IgG B lymphocyte|IgG memory B-lymphocyte|memory IgG B-lymphocyte	http://purl.obolibrary.org/obo/CL_0000979	An IgG memory B cell is a class switched memory B cell that is class switched and expresses IgG on the cell surface.	
MONDO:0008245	piebald trait-neurologic defects syndrome	biolink:Disease	mondo	UMLS:C1868311|GARD:0005133|MESH:C536955|Orphanet:2885|OMIM:172850	ordo_malformation_syndrome	telfer-Sugar-Jaeger syndrome|telfer Sugar Jaeger syndrome|piebald trait neurologic defects|White forelock and leukoderma with neurological impairment|piebald trait with neurologic defects	http://purl.obolibrary.org/obo/MONDO_0008245	Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971.	http://identifiers.org/omim/172850|ORPHA:2885|UMLS:C1868311|MESH:C536955
MONDO:0008242	photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction	biolink:Disease	mondo	ICD9:583.9|MESH:C538113|GARD:0009267|UMLS:C1809475|SCTID:237612000|OMIM:172500		photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction|Herrmann syndrome|hereditary photomyoclonus associated with diabetes mellitus, deafness, nephropathy, and cerebral dysfunction	http://purl.obolibrary.org/obo/MONDO_0008242		SNOMEDCT:237612000|MESH:C538113|http://identifiers.org/omim/172500|UMLS:C1809475
GO:0042692	muscle cell differentiation	biolink:OntologyClass	mondo			myogenesis	http://purl.obolibrary.org/obo/GO_0042692	The process in which a relatively unspecialized cell acquires specialized features of a muscle cell.	
MONDO:0008243	Pick disease	biolink:Disease	mondo	ICD9:331.11|EFO:0003096|UMLS:C0236642|DOID:11870|OMIM:172700|NCIT:C85008|ICD10:G31.01|GARD:0007392|MESH:D020774|SCTID:13092008		Pick's disease|Pick disease of the brain|PICK disease of brain|lobar atrophy of the brain|dementia with lobar atrophy and neuronal cytoplasmic inclusions|Pick disease|lobar atrophy of brain|dementia in Pick's disease	http://purl.obolibrary.org/obo/MONDO_0008243	A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies.	DOID:11870|MESH:D020774|http://identifiers.org/omim/172700|SNOMEDCT:13092008|UMLS:C0236642|NCIT:C85008
MONDO:0011881	keratosis palmoplantaris striata 3	biolink:Disease	mondo	GARD:0009173|UMLS:C2931123|OMIM:607654|MESH:C536163	gard_rare	keratosis palmoplantaris striata III; PPKS3|keratoderma, palmoplantar, striate form 3|KRT1 striate palmoplantar keratoderma|keratosis palmoplantaris striata type 3|PPKS3|striate palmoplantar keratoderma caused by mutation in KRT1|keratoderma palmoplantar striate form 3|striate palmoplantar keratoderma 3|keratosis palmoplantaris striata III	http://purl.obolibrary.org/obo/MONDO_0011881	Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT1 gene.	MESH:C536163|http://identifiers.org/omim/607654|UMLS:C2931123
MONDO:0008240	6-phosphogluconolactonase deficiency	biolink:Disease	mondo	MESH:C566803|OMIM:172150|UMLS:C1868355		Pgls deficiency|6Pgl deficiency|6-phosphogluconolactonase deficiency	http://purl.obolibrary.org/obo/MONDO_0008240		http://identifiers.org/omim/172150|UMLS:C1868355|MESH:C566803
MONDO:0008241	phosphoglycoprotein 1	biolink:Disease	mondo	OMIM:172290		phosphoglycoprotein 1|phosphoglycoprotein 1; PGP1|PGP1|phosphoglycoprotein type 1	http://purl.obolibrary.org/obo/MONDO_0008241		http://identifiers.org/omim/172290
MONDO:0011880	CANDF3	biolink:Disease	mondo	UMLS:C1843306|OMIM:607644|MESH:C564361		Fcnc|candidiasis, familial, 3|CANDF3|candidiasis, familial chronic nail, with Icam1 deficiency|candidiasis, familial, 3; CANDF3	http://purl.obolibrary.org/obo/MONDO_0011880		UMLS:C1843306|http://identifiers.org/omim/607644|MESH:C564361
MONDO:0011883	Curly hair - acral keratoderma - caries syndrome	biolink:Disease	mondo	OMIM:607656|ICD10:Q82.8|GARD:0010163|MESH:C536220|Orphanet:307766	gard_rare|ordo_disease	CHACS|Chac syndrome|Curly hair - acral keratoderma - caries syndrome|Chacs	http://purl.obolibrary.org/obo/MONDO_0011883	Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age.	ORPHA:307766|MESH:C536220|UMLS:C1843291|http://identifiers.org/omim/607656
MONDO:0011882	skin fragility-woolly hair-palmoplantar keratoderma syndrome	biolink:Disease	mondo	ICD10:Q82.8|MESH:C564359|UMLS:C1843292|OMIM:607655|Orphanet:293165|GARD:0005231	ordo_disease|gard_rare	skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome|SFWHS|skin fragility-woolly hair syndrome; SFWHS|skin fragility-woolly hair syndrome|skin fragility woolly hair syndrome	http://purl.obolibrary.org/obo/MONDO_0011882		UMLS:C1843292|http://identifiers.org/omim/607655|MESH:C564359|ORPHA:293165
MONDO:0011885	tubulointerstitial nephritis and uveitis syndrome	biolink:Disease	mondo	UMLS:C1843273|Orphanet:91500|MedDRA:10069039|NCIT:C123021|MedDRA:10069034|OMIM:607665|ICD10:N10|GARD:0009252	ordo_disease	Tubulointerstitial nephritis and uveitis|acute Tubulointerstitial nephritis|acute tubulointerstitial nephritis and uveitis syndrome|TUBULOINTERSTITIAL nephritis with uveitis; TINU|TINU|TINU syndrome|TUBULOINTERSTITIAL nephritis with uveitis|Dobrin syndrome	http://purl.obolibrary.org/obo/MONDO_0011885	An autoimmune disorder comprising tubulointerstitial nephritis and uveitis.	ORPHA:91500|UMLS:C1843273|http://identifiers.org/omim/607665|MESH:C536922|MEDDRA:10069034|MEDDRA:10069039|UMLS:C1639520|UMLS:C2609298|NCIT:C123021
CL:0000970	unswitched memory B cell	biolink:Cell	mondo			unswitched memory B-cell|unswitched memory B lymphocyte|non-class-switched memory B cell|unswitched memory B-lymphocyte|IgD+ memory B cell	http://purl.obolibrary.org/obo/CL_0000970	An unswitched memory B cell is a memory B cell that has the phenotype IgM-positive, IgD-positive, CD27-positive, CD138-negative, IgG-negative, IgE-negative, and IgA-negative.	
MONDO:0011884	hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome	biolink:Disease	mondo	OMIM:607658|MESH:C564357|SCTID:763658004|Orphanet:307936|UMLS:C1843285|ICD10:Q82.8	ordo_disease	hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome|Hopp syndrome|hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome|hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome|hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome|HOPP syndrome	http://purl.obolibrary.org/obo/MONDO_0011884	Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed.	ORPHA:307936|UMLS:C1843285|http://identifiers.org/omim/607658|MESH:C564357|SNOMEDCT:763658004
CL:0000971	IgM memory B cell	biolink:Cell	mondo			memory IgM B cell|memory IgM B-cell|memory IgM B lymphocyte|IgM memory B-cell|IgM memory B lymphocyte|memory IgM B-lymphocyte|IgM memory B-lymphocyte	http://purl.obolibrary.org/obo/CL_0000971	An IgM memory B cell is an unswitched memory B cell with the phenotype IgM-positive and IgD-negative.	
MONDO:0011887	cataract, congenital, with mental impairment and dentate gyrus atrophy	biolink:Disease	mondo	OMIM:607674|UMLS:C1843257|MESH:C564353		cataract, congenital, with mental impairment and dentate gyrus atrophy	http://purl.obolibrary.org/obo/MONDO_0011887		UMLS:C1843257|http://identifiers.org/omim/607674|MESH:C564353
CL:0000972	class switched memory B cell	biolink:Cell	mondo			class switched memory B-lymphocyte|class switched memory B-cell|class switched memory B lymphocyte	http://purl.obolibrary.org/obo/CL_0000972	A class switched memory B cell is a memory B cell that has undergone Ig class switching and therefore is IgM-negative on the cell surface. These cells are CD27-positive and have either IgG, IgE, or IgA on the cell surface.	
MONDO:0011886	torsion dystonia 13	biolink:Disease	mondo	DOID:0090037|SCTID:719278006|MESH:C564354|OMIM:607671|ICD10:G24.1|Orphanet:98807	ordo_disease	dystonia 13, torsion, autosomal dominant|dystonia 13, torsion, autosomal dominant; DYT13|primary dystonia with mixed phenotype|torsion dystonia type 13|DYT13|primary torsion dystonia with predominant craniocervical or upper limb onset|primary dystonia, DYT13 type	http://purl.obolibrary.org/obo/MONDO_0011886	DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement.	SNOMEDCT:719278006|ORPHA:98807|http://identifiers.org/omim/607671|DOID:0090037|MESH:C564354
CL:0000973	IgA memory B cell	biolink:Cell	mondo			IgA memory B-cell|IgA memory B lymphocyte|memory IgA B cell|IgA memory B-lymphocyte|memory IgA B-cell|memory IgA B lymphocyte|memory IgA B-lymphocyte	http://purl.obolibrary.org/obo/CL_0000973	A class switched memory B cell that expresses IgA.	
MONDO:0008219	pemphigus vulgaris	biolink:Disease	mondo	GARD:0004270|DOID:0060851|OMIM:169610|MedDRA:10052802|ICD10:L10.0|Orphanet:704|EFO:0004719|UMLS:C0030809|SCTID:49420001|NCIT:C34910|GARD:0007355	ordo_disease|gard_rare	pemphigus vulgaris, familial|familial pemphigus vulgaris	http://purl.obolibrary.org/obo/MONDO_0008219	Pemphigus is a group of chronic autoimmune skin diseases characterized by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which pemphigus vulgaris is the most frequent (75%).	SNOMEDCT:49420001|UMLS:C0030809|MEDDRA:10052802|NCIT:C34910|ORPHA:704|DOID:0060851|http://identifiers.org/omim/169610
MONDO:0008217	pelvis-shoulder dysplasia	biolink:Disease	mondo	ICD10:Q87.5|SCTID:719298001|UMLS:C1868508|Orphanet:2839|OMIM:169550|MESH:C566811	ordo_malformation_syndrome	Scapuloiliac dysostosis|Kosenow syndrome|pelvis-shoulder dysplasia	http://purl.obolibrary.org/obo/MONDO_0008217	Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis.	ORPHA:2839|UMLS:C1868508|MESH:C566811|SNOMEDCT:719298001|http://identifiers.org/omim/169550
MONDO:0008218	Hailey-Hailey disease	biolink:Disease	mondo	MESH:D016506|OMIM:169600|GARD:0006559|SCTID:79468000|ICD10:Q82.8|UMLS:C0085106|NCIT:C82865|Orphanet:2841|DOID:0050429	ordo_disease|gard_rare	benign chronic familial pemphigus of Hailey-Hailey|familial benign chronic pemphigus|benign familial pemphigus|benign chronic pemphigus; BCPM|benign chronic pemphigus|familial benign pemphigus|BCPM|Hailey-Hailey disease|pemphigus, benign familial	http://purl.obolibrary.org/obo/MONDO_0008218	Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).	NCIT:C82865|ORPHA:2841|SNOMEDCT:79468000|DOID:0050429|MESH:D016506|http://identifiers.org/omim/169600|UMLS:C0085106
MONDO:0008215	adult-onset autosomal dominant demyelinating leukodystrophy	biolink:Disease	mondo	GARD:0010587|DOID:0060785|ICD10:E75.2|OMIM:169500|SCTID:448054001|MESH:C566813|Orphanet:99027	ordo_disease	Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type, formerly|leukodystrophy, demyelinating, ADULT-onset, autosomal dominant|Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type|ADLD|autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease|autosomal dominant adult-onset demyelinating leukodystrophy|multiple sclerosis-like disorder|adult-onset autosomal dominant leukodystrophy|adult-onset autosomal dominant demyelinating leukodystrophy|autosomal dominant leukodystrophy with autonomic disease|leukodystrophy, demyelinating, ADULT-onset, autosomal dominant; ADLD	http://purl.obolibrary.org/obo/MONDO_0008215	Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment.	UMLS:C3164344|MESH:C566813|DOID:0060785|http://identifiers.org/omim/169500|SNOMEDCT:448054001|ORPHA:99027
MONDO:0011867	microphthalmia with cyst, bilateral facial clefts, and limb anomalies	biolink:Disease	mondo	MESH:C564370|OMIM:607597|UMLS:C1843492		microphthalmia with cyst, bilateral facial clefts, and limb anomalies	http://purl.obolibrary.org/obo/MONDO_0011867		http://identifiers.org/omim/607597|UMLS:C1843492|MESH:C564370
CL:0000941	thymic conventional dendritic cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000941	A dendritic cell arising in thymus that has the phenotype CD11c-positive, CD11b-negative, and CD45RA-negative.	
MONDO:0011866	pontocerebellar hypoplasia type 1A	biolink:Disease	mondo	OMIM:607596|DOID:0060265		pontocerebellar hypoplasia, type 1A|non-syndromic pontocerebellar hypoplasia caused by mutation in VRK1|PCH1A|pontocerebellar hypoplasia with infantile spinal muscular atrophy|pontocerebellar hypoplasia, type 1A; PCH1A|pontocerebellar hypoplasia with anterior horn cell disease|VRK1 non-syndromic pontocerebellar hypoplasia|Pch1	http://purl.obolibrary.org/obo/MONDO_0011866	Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene.	http://identifiers.org/omim/607596|DOID:0060265
MONDO:0008216	pelvic lipomatosis with crossed renal ectopia	biolink:Disease	mondo	UMLS:C1868511|OMIM:169545|MESH:C566812		pelvic lipomatosis with crossed renal ectopia	http://purl.obolibrary.org/obo/MONDO_0008216		MESH:C566812|UMLS:C1868511|http://identifiers.org/omim/169545
MONDO:0008213	pectus excavatum (disease)	biolink:Disease	mondo	OMIM:169300|HP:0000767|ICD9:754.81|MESH:D005660|SCTID:391987005|COHD:141955		pectus excavatum|funnel chest	http://purl.obolibrary.org/obo/MONDO_0008213	A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed, resulting in a funnel-shaped thorax.	SNOMEDCT:391987005|MESH:D005660|http://identifiers.org/omim/169300
MONDO:0011869	epidermolysis bullosa simplex superficialis	biolink:Disease	mondo	ICD10:Q81.0|UMLS:C1843477|MESH:C564368|Orphanet:89839|OMIM:607600	ordo_disease	EBSS|epidermolysis bullosa simplex superficialis; EBSS|epidermolysis bullosa simplex superficialis	http://purl.obolibrary.org/obo/MONDO_0011869	Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or acral superficial erosions in the absence of blisters.	ORPHA:89839|UMLS:C1843477|http://identifiers.org/omim/607600|MESH:C564368
MONDO:0008214	Pelger-Huet anomaly	biolink:Disease	mondo	OMIM:169400|NCIT:C85002|SCTID:85559002|EFO:1001093|GARD:0009148|DOID:9631|UMLS:C0030779|MESH:D010381|MedDRA:10029377		Pelger Huet anomaly|Pelger-Huet anomaly; PHA|ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities|Pelger-Huet nuclear anomaly|Pelger-Huet anomaly|PHA	http://purl.obolibrary.org/obo/MONDO_0008214	An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear.	SNOMEDCT:85559002|UMLS:C0030779|NCIT:C85002|MESH:D010381|DOID:9631|http://identifiers.org/omim/169400
MONDO:0011868	lethal congenital contracture syndrome 2	biolink:Disease	mondo	OMIM:607598|DOID:0060560|UMLS:C1843478|UMLS:C4275145|GARD:0009177|MESH:C564369|SCTID:715419004|Orphanet:137776|ICD10:Q68.8	ordo_malformation_syndrome|gard_rare	LCCS2|multiple contracture syndrome, Israeli-Bedouin type|multiple contracture syndrome, Israeli Bedouin type|ERBB3 lethal congenital contracture syndrome|multiple contracture syndrome, Israeli Bedouin type a|lethal congenital contracture syndrome 2; LCCS2|lethal congenital contracture syndrome type 2|lethal congenital contracture syndrome 2|lethal congenital contracture syndrome caused by mutation in ERBB3	http://purl.obolibrary.org/obo/MONDO_0011868	Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.	DOID:0060560|UMLS:C4275145|ORPHA:137776|http://identifiers.org/omim/607598|UMLS:C1843478|SNOMEDCT:715419004|MESH:C564369
RO:0002630	directly negatively regulates	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002630	Process(P1) directly negatively regulates process(P2) iff: P1 negatively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2).  For example, if protein A has protein binding activity(P1) that targets protein B and this binding  negatively regulates the kinase activity (P2) of protein B then P1 directly negatively regulates P2.	
MONDO:0008211	pseudoleprechaunism syndrome, Patterson type	biolink:Disease	mondo	MESH:C536310|ICD10:E34.8|UMLS:C1868546|OMIM:169170|GARD:0004259|Orphanet:2976	ordo_malformation_syndrome	Patterson's leprechaunoid syndrome|Patterson syndrome|Patterson pseudoleprechaunism syndrome	http://purl.obolibrary.org/obo/MONDO_0008211	Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.	MESH:C536310|UMLS:C1868546|http://identifiers.org/omim/169170|ORPHA:2976
CL:0000945	lymphocyte of B lineage	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000945	A lymphocyte of B lineage with the commitment to express an immunoglobulin complex.	
MONDO:0008212	Pechet factor deficiency	biolink:Disease	mondo	OMIM:169200|MESH:C566814|UMLS:C1868545		Pechet factor deficiency|Dynia factor deficiency	http://purl.obolibrary.org/obo/MONDO_0008212		MESH:C566814|UMLS:C1868545|http://identifiers.org/omim/169200
CL:0000946	antibody secreting cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000946	A lymphocyte of B lineage that is devoted to secreting large amounts of immunoglobulin.	
MONDO:0008210	patterned macular dystrophy 1	biolink:Disease	mondo	DOID:0060866|OMIM:169150		macular dystrophy, patterned, 1|patterned dystrophy of retinal pigment epithelium|MDPT1|butterfly-shaped pigmentary maculary dystrophy 1|macular dystrophy, patterned, type 1|PRPH2 patterned macular dystrophy|butterfly-shaped pigment dystrophy of the fovea|macular dystrophy, patterned, 1; MDPT1|macular dystrophy, butterfly-shaped pigmentary|patterned macular dystrophy caused by mutation in PRPH2|macular dystrophy, butterfly-Shaped pigmentary|butterfly dystrophy of retinal pigment epithelium|patterned macular dystrophy type 1	http://purl.obolibrary.org/obo/MONDO_0008210	Any patterned macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.	DOID:0060866|http://identifiers.org/omim/169150
CL:0000948	IgE memory B cell	biolink:Cell	mondo			memory IgE B cell|memory IgE B-cell|memory IgE B lymphocyte|IgE memory B-cell|IgE memory B lymphocyte|memory IgE B-lymphocyte|IgE memory B-lymphocyte	http://purl.obolibrary.org/obo/CL_0000948	A class switched memory B cell that expresses IgE on the cell surface.	
MONDO:0011870	annular epidermolytic ichthyosis	biolink:Disease	mondo	ICD10:Q80.3|UMLS:C1843463|Orphanet:281139|OMIM:607602|MESH:C564367|SCTID:718631006	ordo_disease	epidermolytic ichthyosis, annular|ichthyosis, cyclic, with epidermolytic hyperkeratosis|AEI|Ciehk	http://purl.obolibrary.org/obo/MONDO_0011870	Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities.	SNOMEDCT:718631006|UMLS:C1843463|http://identifiers.org/omim/607602|MESH:C564367|ORPHA:281139
MONDO:0011872	Griscelli syndrome type 2	biolink:Disease	mondo	GARD:0004483|OMIM:607624|ICD10:E70.3|MESH:C537302|DOID:0060833|UMLS:C1868679|Orphanet:79477|NCIT:C111814	ordo_clinical_subtype|gard_rare	Griscelli-Pruni��ras syndrome type 2|Griscelli syndrome, type 2|Griscelli-Pruniéras syndrome type 2|Paid syndrome|hypopigmentation-immunodeficiency with or without neurologic impairment syndrome|GS2|PAID syndrome|Griscelli syndrome, type 2; GS2|Griscelli disease type 2|partial albinism and immunodeficiency syndrome|Griscelli syndrome with hemophagocytic syndrome|Griscelli-PruniC)ras syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0011872	Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood.	NCIT:C111814|MESH:C537302|http://identifiers.org/omim/607624|UMLS:C1868679|ORPHA:79477|DOID:0060833
MONDO:0011871	Niemann-Pick disease type B	biolink:Disease	mondo	NCIT:C126866|SCTID:39390005|OMIM:607616|ICD10:E75.2|MESH:D052537|DOID:0070112|ICD10:E75.241|Orphanet:77293|GARD:0010729|UMLS:C0268243	gard_rare|ordo_disease	Niemann-Pick disease, type F|type B Niemann-Pick disease|Niemann-Pick disease, type E|Niemann-PICK disease, type B|Niemann Pick disease type B|Niemann-Pick disease, Intermediate, with visceral involvement and rapid progression	http://purl.obolibrary.org/obo/MONDO_0011871	Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea	UMLS:C0268243|DOID:0070112|http://identifiers.org/omim/607616|MESH:D052537|ORPHA:77293|SNOMEDCT:39390005|NCIT:C126866
MONDO:0011874	neonatal ichthyosis-sclerosing cholangitis syndrome	biolink:Disease	mondo	GARD:0010583|Orphanet:59303|UMLS:C1843355|OMIM:607626|MESH:C564365|SCTID:724278007	ordo_disease	IHSC|ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis|NISCH syndrome|Ilvasc|neonatal ichthyosis-sclerosing cholangitis syndrome|ichthyosis-sclerosing cholangitis syndrome|Nisch syndrome|ichthyosis-hypotrichosis-sclerosing cholangitis syndrome|ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis; ILVASC	http://purl.obolibrary.org/obo/MONDO_0011874	Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.	SNOMEDCT:724278007|ORPHA:59303|UMLS:C1843355|http://identifiers.org/omim/607626|MESH:C564365
MONDO:0011873	Niemann-Pick disease, type C2	biolink:Disease	mondo	UMLS:C1843366|OMIM:607625|NCIT:C126865|DOID:0070114|MESH:C536119|ICD10:E75.2|GARD:0003992	gard_rare	Niemann-PICK disease, type C2; NPC2|type C2 Niemann-Pick disease|Niemann-Pick disease, type C2|Niemann-Pick disease type C2|NPC2	http://purl.obolibrary.org/obo/MONDO_0011873	Niemann-Pick disease type C2 is a rare metabolic condition that affects many different parts of the body. Although signs and symptoms can develop at any age (infancy through adulthood), most affected people develop features of the condition during childhood. Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease, intellectual decline, seizures, speech problems, and difficulty swallowing. Niemann-Pick disease type C2 is caused by changes (mutations) in the NPC2 gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for Niemann-Pick disease type C2. Treatment is based on the signs and symptoms present in each person.	DOID:0070114|MESH:C536119|UMLS:C1843366|http://identifiers.org/omim/607625|NCIT:C126865
MONDO:0011876	juvenile absence epilepsy	biolink:Disease	mondo	DOID:0060172|ICD10:G40.3|OMIMPS:607631|UMLS:C4317339|NCIT:C129868|Orphanet:1941|GARD:0002162|SCTID:230413002	ordo_disease|predisposition	epilepsy, juvenile absence, susceptibility to, 1|epilepsy, juvenile absence, susceptibility to, 1; EJA1|susceptibility to juvenile absence epilepsy 1|epilepsy, juvenile absence, susceptibility to, type 1|JAE|epilepsy juvenile absence	http://purl.obolibrary.org/obo/MONDO_0011876	Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks.	UMLS:C2930918|UMLS:C4317339|NCIT:C129868|SNOMEDCT:230413002|ORPHA:1941|MESH:C535495|DOID:0060172
MONDO:0011875	epilepsy, idiopathic generalized, susceptibility to, 11	biolink:Disease	mondo	DOID:0111312|OMIM:607628	predisposition	epilepsy, juvenile absence, susceptibility to, 2|epilepsy, juvenile myoclonic, susceptibility to, 8|generalised epilepsy caused by mutation in CLCN2|epilepsy, idiopathic generalized, susceptibility to, type 11|epilepsy, idiopathic generalized, susceptibility to, 11; EIG11|susceptibility to idiopathic generalized epilepsy 11|EIG11|CLCN2 generalised epilepsy|epilepsy, idiopathic generalized, susceptibility to, 11	http://purl.obolibrary.org/obo/MONDO_0011875	Any generalised epilepsy in which the cause of the disease is a mutation in the CLCN2 gene.	DOID:0111312|http://identifiers.org/omim/607628
RO:0002629	directly positively regulates	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002629	Process(P1) directly postively regulates process(P2) iff: P1 positively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2).  For example, if protein A has protein binding activity(P1) that targets protein B and this binding positively regulates the kinase activity (P2) of protein B then P1 directly positively regulates P2.	
MONDO:0008228	pernicious anemia	biolink:Disease	mondo	UMLS:C0002892|ICD10:D51.0|EFO:0005576|GARD:0012671|MESH:D000752|ICD9:281.0|SCTID:84027009|OMIM:170900|COHD:432295|NCIT:C2871|DOID:13381		Addison anaemia|anemia pernicious|pernicious anemia|intrinsic factor deficiency|Biermer's anemia|Addison's anaemia	http://purl.obolibrary.org/obo/MONDO_0008228	Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells.	MESH:D000752|http://identifiers.org/omim/170900|DOID:13381|SNOMEDCT:84027009|UMLS:C0002892|NCIT:C2871
NCBITaxon:7953	Cyprinidae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_7953		
MONDO:0008229	peroneal nerve, accessory deep	biolink:Disease	mondo	UMLS:C1868426|GARD:0008546|OMIM:170980|MESH:C536001	gard_rare	accessory deep peroneal nerve|peroneal nerve, accessory deep	http://purl.obolibrary.org/obo/MONDO_0008229		MESH:C536001|UMLS:C1868426|http://identifiers.org/omim/170980
NCBITaxon:7952	Cypriniformes	organism taxon	mondo	GC_ID:1		carps and others	http://purl.obolibrary.org/obo/NCBITaxon_7952		
MONDO:0008226	aggressive periodontitis	biolink:Disease	mondo	DOID:1474|OMIM:170650|EFO:0006342|UMLS:C0031106|MESH:D010520|ICD9:523.5|ICD10:K05.2		juvenile periodontitis|periodontitis, aggressive, 1|periodontitis, prepubertal|periodontitis, juvenile|periodontitis, aggressive, type 1	http://purl.obolibrary.org/obo/MONDO_0008226	A localized aggressive periodontitis, formerly called localized juvenile periodontitis. It is a destructive form of periodontitis characterized by ALVEOLAR BONE LOSS of the MOLARS and INCISORS. Inflammation and loss of PERIODONTIUM that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as DENTAL PLAQUE and DENTAL CALCULUS. This highly destructive form of periodontitis often occurs in young people and was called early-onset periodontitis, but this disease also appears in old people.	http://identifiers.org/omim/170650|MESH:D010520|DOID:1474|UMLS:C0031106
MONDO:0011856	spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome	biolink:Disease	mondo	Orphanet:168552|MESH:C535791|UMLS:C1843706|GARD:0008719|ICD10:Q77.8|OMIM:607543	ordo_disease	SmD with with bowed forearms and facial dysmorphism|spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism|SmD with bowed forearms and Facial Dysmorphism	http://purl.obolibrary.org/obo/MONDO_0011856		MESH:C535791|ORPHA:168552|http://identifiers.org/omim/607543|UMLS:C1843706
MONDO:0008227	peripheral dysostosis	biolink:Disease	mondo	UMLS:CN074256|GARD:0002015|ICD10:Q74.8|Orphanet:1795|OMIM:170700	ordo_malformation_syndrome|gard_rare	peripheral dysostosis|dysostosis peripheral	http://purl.obolibrary.org/obo/MONDO_0008227		ORPHA:1795|http://identifiers.org/omim/170700|UMLS:CN074256
MONDO:0011855	granular corneal dystrophy type II	biolink:Disease	mondo	ICD10:H18.5|ICD9:371.56|SCTID:397568004|Orphanet:98963|GARD:0009278|MESH:C535474|DOID:0060444|UMLS:C1275685|OMIM:607541	ordo_disease	granular-lattice corneal dystrophy|avellino corneal dystrophy|combined granular-lattice corneal dystrophies|GCD2|corneal dystrophy Avellino type|GCDII|granular corneal dystrophy, type 2|Avellino corneal dystrophy|granular-lattice (Avellino) corneal dystrophy|corneal dystrophy, AVELLINO type; CDA|granular corneal dystrophy type 2|ACD|CGD2|granular and lattice corneal dystrophies|corneal dystrophy, AVELLINO type|CDA|combined granular-lattice corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0011855	Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment.	DOID:0060444|UMLS:C1275685|http://identifiers.org/omim/607541|ORPHA:98963|SNOMEDCT:397568004|MESH:C535474
MONDO:0008224	hyperkalemic periodic paralysis	biolink:Disease	mondo	UMLS:CN074266|SCTID:304737009|Orphanet:682|GARD:0000195|ICD10:G72.3|OMIM:170500|NCIT:C123429|MESH:D020513|DOID:14451|UMLS:C0238357	ordo_disease|gard_rare	sodium channel muscle disease|Gamstorp episodic adynamy|Gamstorp disease|HYPP|adynamia episodica hereditaria with or without myotonia|hyperkalemic PP|familial hyperkalemic periodic paralysis (disorder) [ambiguous]|hyperkalemic periodic paralysis|primary hyperkalemic periodic paralysis|adynamia episodica hereditaria|hyperKPP|hyperkalemic periodic paralysis; HYPP|familial hyperkalemic periodic paralysis|normokalemic periodic paralysis, potassium-sensitive|primary hyperPP|hyperPP|familial hyperPP	http://purl.obolibrary.org/obo/MONDO_0008224	Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration.	DOID:14451|ORPHA:682|MESH:C535409|SNOMEDCT:304737009|MESH:D020513|NCIT:C123429|UMLS:C0238357|UMLS:C2930895|UMLS:CN074266|http://identifiers.org/omim/170500
MONDO:0011858	spastic paraplegia, ataxia, and mental retardation	biolink:Disease	mondo	UMLS:C1843661|OMIM:607565|MESH:C564378		Spar|spastic paraplegia, ataxia, and intellectual disability|spastic paraplegia, ataxia, and mental retardation	http://purl.obolibrary.org/obo/MONDO_0011858		MESH:C564378|http://identifiers.org/omim/607565|UMLS:C1843661
CL:0000954	small pre-B-II cell	biolink:Cell	mondo			small pre-BII cell	http://purl.obolibrary.org/obo/CL_0000954	A small pre-B-II cell is a pre-B-II cell that is Rag1-positive, Rag2-positive, pre-BCR-negative, and BCR-negative, is not proliferating, and carries a DNA rearrangement of one or more immunoglobulin light chain genes.	
MONDO:0011857	atrial fibrillation, familial, 3	biolink:Disease	mondo	MESH:C563817|OMIM:607554|UMLS:C1837014		atrial fibrillation, familial, 3; ATFB3|familial atrial fibrillation caused by mutation in KCNQ1|atrial fibrillation, familial, type 3|ATFB3|atrial fibrillation, familial, 3|KCNQ1 familial atrial fibrillation	http://purl.obolibrary.org/obo/MONDO_0011857	Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNQ1 gene.	UMLS:C1837014|MESH:C563817|http://identifiers.org/omim/607554
MONDO:0008225	normokalemic periodic paralysis	biolink:Disease	mondo	Orphanet:680|OMIM:170600|SCTID:40381009|UMLS:C0268445|NCIT:C122791|GARD:0004009		potassium-sensitive normokalemic periodic paralysis|periodic paralysis type 3|normokalemic PP|normokalemic periodic paralysis|NormoKPP	http://purl.obolibrary.org/obo/MONDO_0008225		http://identifiers.org/omim/170600|ORPHA:680|SNOMEDCT:40381009|UMLS:C0268445|NCIT:C122791
CL:0000955	pre-B-II cell	biolink:Cell	mondo	BTO:0001133|CALOHA:TS-0819		pre-B-lymphocyte|pre-BII cell	http://purl.obolibrary.org/obo/CL_0000955	A pre-B-II cell is a precursor B cell that expresses immunoglobulin mu heavy chain (IgHmu+), and lack expression of CD34, TdT, immunoglobulin kappa light chain and immunoglobulin lambda light chain.	
MONDO:0008222	Andersen-Tawil syndrome	biolink:Disease	mondo	Orphanet:37553|UMLS:C1563715|ICD9:759.89|SCTID:422348008|OMIM:170390|MESH:D050030|NCIT:C84559|ICD10:G72.3|GARD:0009453|DOID:0050434	ordo_disease	long QT syndrome type 7|Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features|long QT syndrome 7|periodic paralysis, Potassium-sensitive cardiodysrhythmic type|Andersen syndrome|cardiodysrhythmic potassium-sensitive periodic paralysis|LQT7|ATS|Andersen cardiodysrhythmic periodic paralysis|Potassium-sensitive cardiodysrhythmic type|Andersen-Tawil syndrome	http://purl.obolibrary.org/obo/MONDO_0008222	Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.	ORPHA:37553|MESH:D050030|NCIT:C84559|UMLS:C1563715|http://identifiers.org/omim/170390|SNOMEDCT:422348008|DOID:0050434
CL:0000956	pre-B-I cell	biolink:Cell	mondo			pro-B cell (Philadelphia nomenclature)|pre-BI cell	http://purl.obolibrary.org/obo/CL_0000956	A pre-B-I cell is a precursor B cell that expresses CD34 and surrogate immunoglobulin light chain (VpreB , Lambda 5 (mouse)/14.1 (human)) on the cell surface, and TdT, Rag1,and Rag2 intracellularly. Cell type carries a D-JH DNA rearrangement, and lacks expression of immunglobulin heavy chain protein.	
MONDO:0008223	hypokalemic periodic paralysis	biolink:Disease	mondo	ICD10:G72.3|UMLS:C0238358|Orphanet:681|SCTID:82732003|MESH:D020514|NCIT:C84775|DOID:14452|GARD:0006729	ordo_disease|gard_rare	familial periodic paralysis (& [hypokalaemic])|periodic hypokalemic paralysis|Westphall disease|familial hypokalemic periodic paralysis|HOKPP|HypoPP|familial periodic paralysis|hypokalemic familial periodic paralysis|hypokalemic periodic paralysis|periodic paralysis I|HKPP	http://purl.obolibrary.org/obo/MONDO_0008223	Hypokalemic periodic paralysis (hypoPP) is characterised by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels.	ORPHA:681|NCIT:C84775|MESH:D020514|UMLS:C0238358|SNOMEDCT:82732003|DOID:14452
MONDO:0011859	obsolete distal myopathy with early respiratory muscle involvement	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0011859		
MONDO:0008220	pepsinogen 3, group 1	biolink:Disease	mondo	OMIM:169710		pepsinogen 3, Group type 1|pepsinogen I--second locus|PGA3|pepsinogen 3, group I; PGA3|pepsinogen 3, group I	http://purl.obolibrary.org/obo/MONDO_0008220		http://identifiers.org/omim/169710
CL:0000958	T1 B cell	biolink:Cell	mondo			transitional stage 1 B cell|T1 B-cell|T1 B lymphocyte|T1 B-lymphocyte	http://purl.obolibrary.org/obo/CL_0000958	A transitional stage B cell that migrates from the bone marrow into the peripheral circulation, and finally to the spleen. This cell type has the phenotype surface IgM-positive, surface IgD-negative, CD21-negative, CD23-negative, and CD62L-negative, and CD93-positive. This cell type has also been described as IgM-high, CD19-positive, B220-positive, AA4-positive, and CD23-negative.	
CL:0000959	T2 B cell	biolink:Cell	mondo			T2 B-lymphocyte|transitional stage 2 B cell|T2 B-cell|T2 B lymphocyte	http://purl.obolibrary.org/obo/CL_0000959	A transitional stage B cell that has the phenotype surface IgM-positive, surface IgD-postive, CD21-positive, CD23-positive, CD62L-negative, CD93-positive and is located in the splenic B follicles. This cell type has also been described as IgM-high, CD19-positive, B220-positive, AA4-positive, and CD23-positive.	
MONDO:0008221	prolidase deficiency	biolink:Disease	mondo	Orphanet:742|OMIM:170100|NCIT:C85029|MESH:D056732|UMLS:C0268532|SCTID:410055005|DOID:0111540|GARD:0007473|ICD10:E72.8	ordo_disease	Peptidase deficiency|prolidase deficiency|hyperimidodipeptiduria|Imidodipeptidase deficiency	http://purl.obolibrary.org/obo/MONDO_0008221	Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.	DOID:0111540|NCIT:C85029|UMLS:C1534653|UMLS:C0268532|MESH:D056732|http://identifiers.org/omim/170100|ORPHA:742|SNOMEDCT:410055005
MONDO:0011861	breath-holding Spells	biolink:Disease	mondo	OMIM:607578		Bhs|breath-holding Spells	http://purl.obolibrary.org/obo/MONDO_0011861		http://identifiers.org/omim/607578
MONDO:0011860	LPRS2	biolink:Disease	mondo	OMIM:607572|UMLS:C1843632	predisposition	leprosy, susceptibility to, 2|leprosy, susceptibility to, 2; LPRS2|LPRS2	http://purl.obolibrary.org/obo/MONDO_0011860		http://identifiers.org/omim/607572|UMLS:C1843632
MONDO:0011863	prostate cancer aggressiveness quantitative trait locus on chromosome 19	biolink:Disease	mondo	OMIM:607592		HPCqtl19|prostate cancer aggressiveness quantitative trait locus on chromosome type 19|prostate cancer aggressiveness quantitative trait locus on chromosome 19	http://purl.obolibrary.org/obo/MONDO_0011863		http://identifiers.org/omim/607592
MONDO:0011862	hereditary spastic paraplegia 24	biolink:Disease	mondo	OMIM:607584|UMLS:C1843569|Orphanet:101004|ICD10:G11.4|MESH:C564375|GARD:0009296|DOID:0110775	ordo_disease	hereditary spastic paraplegia type 24|spastic paraplegia 24, autosomal recessive; SPG24|SPG24|autosomal recessive spastic paraplegia type 24|spastic paraplegia 24|spastic paraplegia 24, autosomal recessive|autosomal recessive spastic paraplegia 24	http://purl.obolibrary.org/obo/MONDO_0011862	A hereditary spastic paraplegia that has material basis in variation in the chromosome region 13q14.	http://identifiers.org/omim/607584|UMLS:C1843569|MESH:C564375|DOID:0110775|ORPHA:101004
MONDO:0011865	obsolete COL4A1-related familial vascular leukoencephalopathy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0011865	A brain disease characterized by autosomal dominant inheritance of fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has material basis in heterozygous mutation in the COL4A1 gene on chromosome 13q34.	
MONDO:0011864	immunodeficiency, common variable, 1	biolink:Disease	mondo	OMIM:607594|UMLS:C3149378		immunodeficiency, common variable, 1; CVID1|immunodeficiency, common variable|immunodeficiency, common variable, 1|antibody deficiency due to Icos defect|immunodeficiency, common variable, type 1|CVID1	http://purl.obolibrary.org/obo/MONDO_0011864		UMLS:C3149378|http://identifiers.org/omim/607594
NCBITaxon:7962	Cyprinus carpio	organism taxon	mondo	GC_ID:1		koi|fancy carp|common carp|mirror carp|carp	http://purl.obolibrary.org/obo/NCBITaxon_7962		
NCBITaxon:7961	Cyprinus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_7961		
GO:0005615	extracellular space	biolink:OntologyClass	mondo			intercellular space	http://purl.obolibrary.org/obo/GO_0005615	That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.	
NCBITaxon:64279	Drosophila C virus	organism taxon	mondo	GC_ID:1		DCV	http://purl.obolibrary.org/obo/NCBITaxon_64279		
UBERON:0007530	migrating mesenchyme population	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0007530	Mesenchymal cells that are migrating.	
GO:0005622	intracellular anatomical structure	biolink:OntologyClass	mondo			nucleocytoplasm|protoplast|intracellular|protoplasm|internal to cell	http://purl.obolibrary.org/obo/GO_0005622	A component of a cell contained within (but not including) the plasma membrane. In eukaryotes it includes the nucleus and cytoplasm.	
GO:0005623	obsolete cell	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0005623	OBSOLETE. The basic structural and functional unit of all organisms. Includes the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope.	
HGNC:5948	IGSF1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5948		
UBERON:0007521	smooth muscle sphincter	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0007521	A ring of smooth muscle cells whose contraction closes the opening of the ring.	
HGNC:5950	IGSF3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5950		
HGNC:5956	IHH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5956		
UBERON:0007529	loose mesenchyme tissue	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0007529	Mesenchyme whose cells are embedded in obvious amounts of extracellular matrix.	
UBERON:0007524	dense mesenchyme tissue	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0007524	Mesenchyme with little extracellular matrix.	
HGNC:5959	ELP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5959		
HGNC:5960	IKBKB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5960		
HP:0000175	Cleft palate	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:63567004|MSH:D002972|SNOMEDCT_US:87979003|UMLS:C0008925|Fyler:4876|UMLS:C2981150	hposlim_core	Cleft palate|Cleft hard and soft palate|Cleft of hard and soft palate|Cleft of palate|Cleft secondary palate|Uranostaphyloschisis|Cleft roof of mouth|Palatoschisis	http://purl.obolibrary.org/obo/HP_0000175	Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).	
HGNC:5961	IKBKG	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5961		
HGNC:5962	IL10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5962		
HP:0000177	Abnormality of upper lip	biolink:PhenotypicFeature	mondo	UMLS:C4025884	hposlim_core	Deformity of the upper lip|Malformation of the upper lip|Abnormality of upper lip|Anomaly of the upper lip	http://purl.obolibrary.org/obo/HP_0000177	An abnormality of the upper lip.	
HGNC:5964	IL10RA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5964		
HGNC:5965	IL10RB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5965		
HGNC:5967	IL11RA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5967		
NCBITaxon:91888	lamiids	organism taxon	mondo	PMID:12144762|GC_ID:1		euasterids I	http://purl.obolibrary.org/obo/NCBITaxon_91888		
HP:0000174	Abnormal palate morphology	biolink:PhenotypicFeature	mondo	UMLS:C4021815	hposlim_core	Palatal anomaly|Abnormality of the palate|Palate abnormality|Abnormality of the roof of the mouth	http://purl.obolibrary.org/obo/HP_0000174	Any abnormality of the palate, i.e., of roof of the mouth.	
GO:0005604	basement membrane	biolink:OntologyClass	mondo			basal lamina|basement lamina|lamina densa	http://purl.obolibrary.org/obo/GO_0005604	A collagen-containing extracellular matrix consisting of a thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers.	
HGNC:3309	ELANE	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3309		
NCBITaxon:40272	Roseolovirus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_40272		
HGNC:5971	IL12RB1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5971		
HGNC:5973	IL13	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5973		
UBERON:0007503	epithelial vesicle	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0007503	A closed epithelium with a lumen.	
UBERON:0007501	arborizing epithelial duct system	biolink:AnatomicalEntity	mondo			arborising epithelial duct system	http://purl.obolibrary.org/obo/UBERON_0007501	A collection of connected epithelial tubes with a single portal.	
UBERON:0007500	epithelial tube open at both ends	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0007500	An epithelial tube open at both ends that allows fluid flow.	
HGNC:5970	IL12B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5970		
MONDO:0011929	chromosome 1p36 deletion syndrome	biolink:Disease	mondo	UMLS:C1842870|SCTID:699306003|GARD:0006082|ICD9:758.39|OMIM:607872|DOID:0060410|NCIT:C74983|MESH:C535362|Orphanet:1606|ICD10:Q93.5	ordo_malformation_syndrome|gard_rare	monosomy 1P36 syndrome|monosomy 1p36|1p Telomere Deletion syndrome|deletion 1p36|deletion 1pter|1p36 deletion syndrome|monosomy 1pter|chromosome 1p36 deletion syndrome|subtelomeric 1p36 deletion|Del(1)(p36)	http://purl.obolibrary.org/obo/MONDO_0011929	1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.	SNOMEDCT:699306003|ORPHA:1606|http://identifiers.org/omim/607872|MESH:C535362|UMLS:C1842870|NCIT:C74983|DOID:0060410
NCBITaxon:447134	Myodes	organism taxon	mondo	GC_ID:1		Clethrionomys	http://purl.obolibrary.org/obo/NCBITaxon_447134		
NCBITaxon:447135	Myodes glareolus	organism taxon	mondo	GC_ID:1		bank vole|Bank vole|Clethrionomys glareolus	http://purl.obolibrary.org/obo/NCBITaxon_447135		
MONDO:0011922	adult idiopathic neutropenia	biolink:Disease	mondo	OMIM:607847|ICD10:D70|UMLS:C1842930|MESH:C564320|Orphanet:2688	ordo_disease	Ni-Cina|nonimmune chronic idiopathic neutropenia of adults|neutropenia, nonimmune chronic idiopathic, of adults	http://purl.obolibrary.org/obo/MONDO_0011922		ORPHA:2688|http://identifiers.org/omim/607847|MESH:C564320|UMLS:C1842930
MONDO:0011921	aural atresia, congenital	biolink:Disease	mondo	UMLS:C1842937|MESH:C564321|OMIM:607842		CAA|aural atresia, congenital; CAA|aural atresia, congenital|aural atresia, congenital, with hyposmia	http://purl.obolibrary.org/obo/MONDO_0011921		http://identifiers.org/omim/607842|MESH:C564321|UMLS:C1842937
MONDO:0011924	panic disorder 2	biolink:Disease	mondo	UMLS:C1842922|OMIM:607853		Pand2|panic disorder type 2|panic disorder susceptibility locus, chromosome 9Q-related|panic disorder 2	http://purl.obolibrary.org/obo/MONDO_0011924		http://identifiers.org/omim/607853|UMLS:C1842922
MONDO:0011923	osteoarthritis susceptibility 3	biolink:Disease	mondo	OMIM:607850	predisposition	osteoarthritis susceptibility 3|ASPN osteoarthritis|osteoarthritis of knee/hip|osteoarthritis susceptibility 3; OS3|osteoarthritis susceptibility type 3|osteoarthritis caused by mutation in ASPN|OS3	http://purl.obolibrary.org/obo/MONDO_0011923	Any osteoarthritis in which the cause of the disease is a mutation in the ASPN gene.	http://identifiers.org/omim/607850
MONDO:0011926	PSORS9	biolink:Disease	mondo	DOID:0111284|OMIM:607857		PSORS9|psoriasis 9, susceptibility to|psoriasis 9, susceptibility to; PSORS9	http://purl.obolibrary.org/obo/MONDO_0011926		DOID:0111284|http://identifiers.org/omim/607857
MONDO:0011925	congenital merosin-deficient muscular dystrophy 1A	biolink:Disease	mondo	UMLS:C1263858|OMIM:607855|SCTID:111503008|DOID:0110636|NCIT:C118783|ICD10:G71.2|EFO:0009138|GARD:0003843|Orphanet:258	ordo_malformation_syndrome	muscular dystrophy, congenital merosin-deficient|merosin-negative congenital muscular dystrophy|merosin-deficient congenital muscular dystrophy type 1A|muscular dystrophy, congenital merosin-deficient, 1A|muscular dystrophy, congenital, merosin-deficient|MDC1A|congenital muscular dystrophy due to laminin alpha2 deficiency|muscular dystrophy, congenital merosin-deficient, 1A; MDC1A|LAMA2 congenital muscular dystrophy|CMD1A|LAMA2-related muscular dystrophy|congenital merosin-deficient muscular dystrophy type 1A|laminin alpha-2 deficiency|congenital muscular dystrophy type 1A|congenital muscular dystrophy caused by mutation in LAMA2|muscular dystrophy, congenital merosin-deficient, type 1A|muscular dystrophy, congenital, due to partial LAMA2 deficiency|merosin-deficient congenital muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0011925	Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.	NCIT:C118783|ORPHA:258|SNOMEDCT:111503008|http://identifiers.org/omim/607855|DOID:0110636|UMLS:C1263858
MONDO:0011928	caudal duplication	biolink:Disease	mondo	ICD10:Q87.8|UMLS:C1842884|MESH:C564315|Orphanet:1756|OMIM:607864|SCTID:71464000|GARD:0001164	ordo_malformation_syndrome|gard_rare	caudal DUPLICATION anomaly|split notochord syndrome|dipygus	http://purl.obolibrary.org/obo/MONDO_0011928	Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents.	UMLS:C0266688|SNOMEDCT:71464000|ORPHA:1756|http://identifiers.org/omim/607864|MESH:C564315|UMLS:C1842884
MONDO:0011927	tufted angioma (disease)	biolink:Disease	mondo	MESH:C536924|OMIM:607859|ICD10:D18.0|ICDO:9161/0|NCIT:C4487|SCTID:705155008|Orphanet:1063|HP:0012329|ICD9:215.9|UMLS:C0346073|GARD:0000425	ordo_disease	tufted hemangioma of skin|tufted hemangioma of the skin|tufted angioma|tufted angioma of skin|tufted angioma of the skin|tufted hemangioma|angioma tufted|tufted skin angioma|angioma, tufted|Nakagawa angioblastoma|angioblastoma of Nakagawa	http://purl.obolibrary.org/obo/MONDO_0011927	Tufted angioma is a very rare, benign, cutaneous, slow-growing, vascular tumor mostly developing in infancy or early childhood.	NCIT:C4487|UMLS:C0346073|ORPHA:1063|http://identifiers.org/omim/607859|MESH:C536924|SNOMEDCT:705155008
HGNC:5985	IL17RA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5985		
MONDO:0011931	OVCAS1	biolink:Disease	mondo	OMIM:607893	predisposition	ovarian cancer, susceptibility to, 1|ovarian cancer, susceptibility to, 1; OVCAS1|OVCAS1	http://purl.obolibrary.org/obo/MONDO_0011931		http://identifiers.org/omim/607893
MONDO:0011930	epilepsy, familial adult myoclonic, 2	biolink:Disease	mondo	MESH:C564313|OMIM:607876|UMLS:C1842852|DOID:0111692		FAME2|cortical myoclonus and epilepsy, autosomal dominant|cortical myoclonic tremor with epilepsy, familial, 2|ADRA2B epilepsy, familial adult myoclonic|epilepsy, familial adult myoclonic caused by mutation in ADRA2B|epilepsy, familial ADULT myoclonic, 2; FAME2|benign adult familial myoclonic epilepsy 2|epilepsy, familial adult myoclonic, 2|epilepsy, familial adult myoclonic, type 2	http://purl.obolibrary.org/obo/MONDO_0011930	Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the ADRA2B gene.	http://identifiers.org/omim/607876|DOID:0111692|MESH:C564313|UMLS:C1842852
HGNC:3327	ELN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3327		
CHEBI:30563	silicon dioxide	biolink:ChemicalSubstance	mondo			Kieselsaeureanhydrid|silicon(IV) oxide|SiO2|[SiO2]|silicic anhydride|(SiO2)n|Siliziumdioxid|Silica, amorphous|silica|silicon dioxide	http://purl.obolibrary.org/obo/CHEBI_30563	A silicon oxide made up of linear triatomic molecules in which a silicon atom is covalently bonded to two oxygens.	
MONDO:0011919	autoimmune disease, susceptibility to, 1	biolink:Disease	mondo	OMIM:607836	predisposition	susceptibility to autoimmune disease 1|autoimmune disease, susceptibility to, 1|autoimmune disease caused by mutation in FOXD3|autoimmune disease, susceptibility to, 1; AIS1|vitiligo-associated multiple autoimmune disease susceptibility 2|AIS1|autoimmune disease susceptibility locus, chromosome 1P-related|FOXD3 autoimmune disease|autoimmune disease, susceptibility to, type 1	http://purl.obolibrary.org/obo/MONDO_0011919	Any autoimmune disease in which the cause of the disease is a mutation in the FOXD3 gene.	http://identifiers.org/omim/607836
MONDO:0011918	anxiety	biolink:Disease	mondo	OMIM:607834		anxiety|harm avoidance	http://purl.obolibrary.org/obo/MONDO_0011918		http://identifiers.org/omim/607834
MONDO:0011911	craniolenticulosutural dysplasia	biolink:Disease	mondo	DOID:0070307|ICD10:Q75.8|Orphanet:50814|OMIM:607812|UMLS:C1843042|MESH:C564332|SCTID:725100001	ordo_malformation_syndrome	CLSD|Boyadjiev-Jabs syndrome|craniolenticulosutural dysplasia|craniolenticulosutural dysplasia; CLSD|cranio-lenticulo-sutural dysplasia, CLSD	http://purl.obolibrary.org/obo/MONDO_0011911	Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.	DOID:0070307|ORPHA:50814|UMLS:C1843042|SNOMEDCT:725100001|http://identifiers.org/omim/607812|MESH:C564332
MONDO:0011910	obsolete autosomal dominant limb-girdle muscular dystrophy type 1C	biolink:Disease	mondo	UMLS:C1832567|GARD:0012527|OMIM:607801|MESH:C563362|ICD10:G71.0|DOID:0110302|NCIT:C148318|SCTID:719986000|Orphanet:265	ordo_disease	muscular dystrophy limb-girdle type IC|limb-girdle muscular dystrophy due to caveolin-3 deficiency|muscular dystrophy, limb-girdle, type 1C|autosomal dominant limb-girdle muscular dystrophy caused by mutation in CAV3|limb-girdle muscular dystrophy type 1C|muscular dystrophy, limb-girdle, type 1C; LGMD1C|LGMD1C|CAV3 autosomal dominant limb-girdle muscular dystrophy|muscular dystrophy, limb-girdle, type IC	http://purl.obolibrary.org/obo/MONDO_0011910	Autosomal dominant limb-girdle muscular dystrophy type 1C (LGMD1C) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a childhood to adulthood onset of progressive, mild-to-moderate proximal muscle weakness, calf hypertrophy, and variable muscle cramping/stiffness or myalgia, after exercise. A positive Gowers sign and elevated creatine kinase serum levels are frequently observed. Initial motor milestones are usually normal and muscle rippling may be observed. Respiratory and cardiac anomalies are generally not associated with LGMD1C.	NCIT:C148318|SNOMEDCT:719986000|UMLS:C1832567|ORPHA:265|http://identifiers.org/omim/607801|DOID:0110302|MESH:C563362
MONDO:0011913	Alzheimer disease 3	biolink:Disease	mondo	OMIM:607822|NCIT:C123412|DOID:0110042|GARD:0009468		Alzheimer disease, familial, 3, with spastic paraparesis and apraxia|Alzheimer's disease 3|Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques|Alzheimer disease type 3|Alzheimer's disease type 3|Alzheimer disease 3, early-onset|Alzheimer disease familial 3|early-onset autosomal dominant Alzheimer disease caused by mutation in PSEN1|AD3|familial Alzheimer disease, type 3|Alzheimer disease 3|Alzheimer disease 3, early onset|Alzheimer disease 3; AD|Alzheimer disease, familial, 3|Alzheimer disease early onset type 3|familial Alzheimer's disease, type 3|PSEN1 early-onset autosomal dominant Alzheimer disease	http://purl.obolibrary.org/obo/MONDO_0011913	Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene.	NCIT:C123412|DOID:0110042|http://identifiers.org/omim/607822
MONDO:0011912	autosomal recessive nonsyndromic deafness 37	biolink:Disease	mondo	OMIM:607821|DOID:0110495|MESH:C564331|UMLS:C1843028|ICD10:H90.3		DFNB37|autosomal recessive nonsyndromic deafness type 37|autosomal recessive nonsyndromic deafness caused by mutation in MYO6|deafness, autosomal recessive 37; DFNB37|autosomal recessive deafness 37|deafness, autosomal recessive type 37|deafness, autosomal recessive 37|MYO6 autosomal recessive nonsyndromic deafness	http://purl.obolibrary.org/obo/MONDO_0011912	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene.	UMLS:C1843028|http://identifiers.org/omim/607821|MESH:C564331|DOID:0110495
MONDO:0011915	MMVP2	biolink:Disease	mondo	MESH:C564326|OMIM:607829|UMLS:C1843003		MMVP2|mitral valve prolapse, myxomatous 2; MMVP2|mitral valve prolapse 2|mitral valve prolapse 2; MVP2|myxomatous mitral valve prolapse 2|mitral valve prolapse, myxomatous 2|MVP2	http://purl.obolibrary.org/obo/MONDO_0011915		UMLS:C1843003|http://identifiers.org/omim/607829|MESH:C564326
MONDO:0011914	hypotrichosis-lymphedema-telangiectasia syndrome	biolink:Disease	mondo	UMLS:C1843004|MESH:C564327|DOID:0111361|OMIM:607823		HLTS|hypotrichosis-lymphedema-telangiectasia syndrome|hypotrichosis-lymphedema-telangiectasia syndrome; HLTS	http://purl.obolibrary.org/obo/MONDO_0011914		UMLS:C1843004|DOID:0111361|http://identifiers.org/omim/607823|MESH:C564327
MONDO:0011917	focal segmental glomerulosclerosis 3, susceptibility to	biolink:Disease	mondo	OMIM:607832	predisposition	susceptibility to focal segmental glomerulosclerosis 3|glomerulosclerosis, focal segmental, 3, susceptibility to|CD2AP focal segmental glomerulosclerosis|focal segmental glomerulosclerosis 3, susceptibility to|focal segmental glomerulosclerosis caused by mutation in CD2AP|focal segmental glomerulosclerosis 3, susceptibility to; FSGS3|FSGS3	http://purl.obolibrary.org/obo/MONDO_0011917	Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CD2AP gene.	http://identifiers.org/omim/607832
MONDO:0011916	Charcot-Marie-Tooth disease axonal type 2K	biolink:Disease	mondo	DOID:0110167|ICD10:G60.0|UMLS:C1842983|Orphanet:101097|OMIM:607831|SCTID:725047007	ordo_disease	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2K|Charcot-Marie-Tooth disease, axonal, type 2K|CMT2K|autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K|Charcot-Marie-Tooth neuropathy axonal type 2K|autosomal recessive axonal CMT4C4|autosomal recessive Charcot-Marie-Tooth disease with hoarseness|Charcot-Marie-Tooth neuropathy, axonal, type 2K|autosomal recessive axonal Charcot-Marie-Tooth disease type 2K|ARCMT2K|Charcot-Marie-Tooth disease, autosomal dominant, type 2K|Charcot-Marie-Tooth disease, axonal, type 2K; CMT2K	http://purl.obolibrary.org/obo/MONDO_0011916	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.	ORPHA:101097|SNOMEDCT:725047007|http://identifiers.org/omim/607831|DOID:0110167|UMLS:C1842983
HGNC:3330	EML1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3330		
HGNC:5996	IL1RAPL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5996		
GO:0042611	MHC protein complex	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0042611	A transmembrane protein complex composed of an MHC alpha chain and, in most cases, either an MHC class II beta chain or an invariant beta2-microglobin chain, and with or without a bound peptide, lipid, or polysaccharide antigen.	
CHEBI:17578	toluene	biolink:ChemicalSubstance	mondo			phenylmethane|Toluol|methylbenzene|Toluen|TOLUENE|toluene|Toluene	http://purl.obolibrary.org/obo/CHEBI_17578	The simplest member of the class toluenes consisting of a benzene core which bears a single methyl substituent.	
MONDO:0011920	autosomal dominant nonsyndromic deafness 48	biolink:Disease	mondo	OMIM:607841|DOID:0110571|MESH:C564322|ICD10:H90.3|UMLS:C1842939		autosomal dominant nonsyndromic deafness type 48|deafness, autosomal dominant type 48|autosomal dominant deafness 48|DFNA48|deafness, autosomal dominant 48; DFNA48|autosomal dominant nonsyndromic deafness caused by mutation in MYO1A|MYO1A autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 48	http://purl.obolibrary.org/obo/MONDO_0011920	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO1A gene.	http://identifiers.org/omim/607841|MESH:C564322|DOID:0110571|UMLS:C1842939
GO:0042613	MHC class II protein complex	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0042613	A transmembrane protein complex composed of an MHC class II alpha and MHC class II beta chain, and with or without a bound peptide or polysaccharide antigen.	
HGNC:3337	ADGRE2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3337		
HGNC:3334	EMP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3334		
HGNC:3331	EMD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3331		
HGNC:5992	IL1B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5992		
MONDO:0011908	juvenile myelomonocytic leukemia	biolink:Disease	mondo	SCTID:445227008|UMLS:C0349639|ICDO:9946/3|NCIT:C9233|EFO:1000309|ICD10:C93.30|OMIM:607785|MedDRA:10023249|MESH:D054429|Orphanet:86834|GARD:0009884|DOID:0050458|ICD10:C93.3|ONCOTREE:JMML	ordo_disease	chronic myelomonocytic leukemia|juvenile myelomonocytic leukemia; JMML|JMML|leukemia, juvenile myelomonocytic|leukemia, chronic myelomonocytic|juvenile chronic myelomonocytic leukemia|juvenile chronic myeloid leukemia|JCML|juvenile chronic myelogenous leukemia|juvenile myelomonocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0011908	A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)	UMLS:C0349639|MEDDRA:10023249|NCIT:C9233|SNOMEDCT:445227008|ORPHA:86834|MESH:D054429|DOID:0050458|http://identifiers.org/omim/607785
NCBITaxon:91835	fabids	organism taxon	mondo	GC_ID:1		eurosids I	http://purl.obolibrary.org/obo/NCBITaxon_91835		
MONDO:0011907	acrocapitofemoral dysplasia	biolink:Disease	mondo	OMIM:607778|GARD:0010605|DOID:0050604|UMLS:C1843096|SCTID:720416007|MESH:C564334|ICD10:Q78.8|Orphanet:63446	ordo_malformation_syndrome|gard_rare	acrocapitofemoral dysplasia|ACFD|acrocapitofemoral dysplasia; ACFD	http://purl.obolibrary.org/obo/MONDO_0011907	Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.	SNOMEDCT:720416007|ORPHA:63446|UMLS:C1843096|DOID:0050604|http://identifiers.org/omim/607778|MESH:C564334
MONDO:0011909	Charcot-Marie-Tooth disease dominant intermediate d	biolink:Disease	mondo	Orphanet:100046|DOID:0110200|GARD:0009207|OMIM:607791|ICD10:G60.0|MESH:C564333|SCTID:765747004|UMLS:C1843075	ordo_disease	Charcot-Marie-Tooth neuropathy, dominant Intermediate D|Charcot-Marie-Tooth disease, dominant Intermediate type D|MPZ Charcot-Marie-Tooth disease|Charcot Marie Tooth disease dominant intermediate 3|DI-CMTD|autosomal dominant intermediate Charcot-Marie-Tooth disease type D|MPZ-related intermediate Charcot-Marie-Tooth neuropathy|Charcot-Marie-Tooth disease caused by mutation in MPZ|Di-Cmtd|Charcot-Marie-Tooth disease, dominant intermediate D|Charcot-Marie-Tooth disease, dominant intermediate D; CMTDID|Charcot-Marie-Tooth neuropathy dominant intermediate D|CMTDID|Charcot-Marie-Tooth disease dominant intermediate type D	http://purl.obolibrary.org/obo/MONDO_0011909	Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.	ORPHA:100046|SNOMEDCT:765747004|UMLS:C1843075|http://identifiers.org/omim/607791|DOID:0110200|MESH:C564333
MONDO:0011900	POROK4	biolink:Disease	mondo	UMLS:C1843180|OMIM:607728		POROK4|porokeratosis 4, disseminated superficial actinic type|porokeratosis 4, disseminated superficial actinic type; POROK4|porokeratosis, disseminated superficial actinic, 2	http://purl.obolibrary.org/obo/MONDO_0011900		UMLS:C1843180|http://identifiers.org/omim/607728
MONDO:0011902	Charcot-Marie-Tooth disease type 1F	biolink:Disease	mondo	Orphanet:101085|SCTID:719980006|OMIM:607734|UMLS:C1843164|MESH:C537987|ICD10:G60.0|DOID:0110149|GARD:0009191	gard_rare|ordo_disease	Charcot-Marie-Tooth neuropathy type 1F|Charcot-Marie-Tooth disease, demyelinating, type 1F; CMT1F|CMT1F|Charcot Marie Tooth disease type 1F|CMT 1F|NEFL Charcot-Marie-Tooth disease type 1|Charcot-Marie-Tooth neuropathy, type 1F|Charcot-Marie-Tooth disease type 1 caused by mutation in NEFL|Charcot-Marie-Tooth disease, demyelinating, type 1F	http://purl.obolibrary.org/obo/MONDO_0011902	A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2)..	ORPHA:101085|SNOMEDCT:719980006|UMLS:C1843164|http://identifiers.org/omim/607734|MESH:C537987|DOID:0110149
MONDO:0011901	Charcot-Marie-Tooth disease axonal type 2H	biolink:Disease	mondo	OMIM:607731|DOID:0110166|Orphanet:101102|MESH:C535415|UMLS:C1843173|ICD10:G60.0|SCTID:720637005|GARD:0009196	ordo_disease	axonal Charcot-Marie-Tooth disease with pyramidal involvement|autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features|Charcot-Marie-Tooth disease type 2H|Charcot-Marie-Tooth neuropathy, axonal, with pyramidal features, autosomal recessive|CMT2H|Charcot-Marie-Tooth disease, axonal, type 2H|AR-CMT2C|CMT 2H|Charcot Marie Tooth disease type 2H|autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features|autosomal recessive axonal CMT4C2|Charcot-Marie-Tooth disease, axonal, with pyramidal features, autosomal recessive|Charcot-Marie-Tooth disease, axonal, type 2H; CMT2H	http://purl.obolibrary.org/obo/MONDO_0011901	Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.	ORPHA:101102|SNOMEDCT:720637005|UMLS:C1843173|http://identifiers.org/omim/607731|DOID:0110166|MESH:C535415
MONDO:0011904	seizures, benign familial infantile, 3	biolink:Disease	mondo	UMLS:C1843140|OMIM:607745		convulsions, benign familial infantile, 3|BFIS3|SCN2A benign familial infantile epilepsy|seizures, benign familial infantile, type 3|seizures, benign familial neonatal-infantile|seizures, benign familial infantile, 3|seizures, benign familial infantile, 3; BFIS3|benign familial infantile epilepsy caused by mutation in SCN2A	http://purl.obolibrary.org/obo/MONDO_0011904	Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN2A gene.	UMLS:C1843140|http://identifiers.org/omim/607745
MONDO:0011903	Charcot-Marie-Tooth disease type 2J	biolink:Disease	mondo	DOID:0110157|GARD:0009198|MESH:C535417|ICD10:G60.0|Orphanet:99943|OMIM:607736|SCTID:717014003	ordo_disease|gard_rare	Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities|Charcot-Marie-Tooth disease, axonal, type 2J; CMT2J|Charcot-Marie-Tooth disease, axonal, type 2J|Charcot-Marie-Tooth neuropathy, type 2J|Charcot Marie Tooth disease type 2J|CMT 2J|CMT2J|Charcot-Marie-Tooth neuropathy type 2J|autosomal dominant Charcot-Marie-Tooth disease type 2J|Charcot-Marie-Tooth disease, type 2, with hearing loss and pupillary abnormalities	http://purl.obolibrary.org/obo/MONDO_0011903	Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.	ORPHA:99943|http://identifiers.org/omim/607736|DOID:0110157|MESH:C535417|SNOMEDCT:717014003
MONDO:0011906	congenital bile acid synthesis defect 1	biolink:Disease	mondo	Orphanet:79301|GARD:0009813|OMIM:607765|MESH:C535442|DOID:0111071|ICD10:K76.8	ordo_disease	bile acid synthesis defect, congenital, 1|bile acid synthesis defect, congenital, type 1|congenital bile acid synthesis defect caused by mutation in HSD3B7|BASD1|HSD3B7 congenital bile acid synthesis defect|congenital bile acid synthesis defect, type 1|congenital bile acid synthesis defect type 1|bile acid synthesis defect, congenital, 1; CBAS1|CBAS1|3-alpha beta-hydroxy-delta-5-C27-steroid oxidoreductase, deficiency of|3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency|3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency type 1	http://purl.obolibrary.org/obo/MONDO_0011906	Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption.	UMLS:C1843116|DOID:0111071|http://identifiers.org/omim/607765|MESH:C535442|ORPHA:79301
MONDO:0011905	familial hypercholanemia	biolink:Disease	mondo	UMLS:C1843139|OMIM:607748|MESH:C564336|Orphanet:238475|SCTID:723360007	ordo_disease	hypercholanemia, familial; FHCA|FHCA|hereditary hypercholanemia|hypercholanemia, familial	http://purl.obolibrary.org/obo/MONDO_0011905	Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.	SNOMEDCT:723360007|ORPHA:238475|UMLS:C1843139|http://identifiers.org/omim/607748|MESH:C564336
HGNC:3341	EMX2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3341		
HGNC:3349	ENG	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3349		
HGNC:3344	ENAM	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3344		
NCBITaxon:197562	Pancrustacea	organism taxon	mondo	PMID:11557979|GC_ID:1|PMID:10874751			http://purl.obolibrary.org/obo/NCBITaxon_197562		
NCBITaxon:52281	Sarcoptidae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_52281		
NCBITaxon:197563	Mandibulata	organism taxon	mondo	PMID:9727836|PMID:11557979|GC_ID:1		mandibulates	http://purl.obolibrary.org/obo/NCBITaxon_197563		
NCBITaxon:52283	Sarcoptes scabiei	organism taxon	mondo	GC_ID:1		Sarcoptes scabiei type hominis|Sarcoptes scabiei type suis|Sarcoptes scabiei var. chimp|Sarcoptes scabiei var. hominis|Sarcoptes scabiei var. nyctereutis|Sarcoptes scabiei type wallaby|Sarcoptes scabiei var. wallaby|Sarcoptes scabiei type canis|Sarcoptes scabiei type wombati|Sarcoptes scabiei type chimp|Sarcoptes scabiei var. suis|Sarcoptes scabiei var. canis|Sarcoptes scabiei var. wombati	http://purl.obolibrary.org/obo/NCBITaxon_52283		
NCBITaxon:52282	Sarcoptes	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_52282		
HGNC:22082	VMA21	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/22082		
GO:0042636	negative regulation of hair cycle	biolink:OntologyClass	mondo			downregulation of hair cycle|down regulation of hair cycle|inhibition of hair cycle|down-regulation of hair cycle	http://purl.obolibrary.org/obo/GO_0042636	Any process that stops, prevents, or reduces the frequency, rate or extent of the cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair.	
GO:0042633	hair cycle	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0042633	The cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair; one of the collection or mass of filaments growing from the skin of an animal, and forming a covering for a part of the head or for any part or the whole of the body.	
GO:0042632	cholesterol homeostasis	biolink:OntologyClass	mondo			positive regulation of cholesterol homeostasis|regulation of cholesterol homeostasis	http://purl.obolibrary.org/obo/GO_0042632	Any process involved in the maintenance of an internal steady state of cholesterol within an organism or cell.	
GO:0042635	positive regulation of hair cycle	biolink:OntologyClass	mondo			up regulation of hair cycle|stimulation of hair cycle|up-regulation of hair cycle|activation of hair cycle|upregulation of hair cycle	http://purl.obolibrary.org/obo/GO_0042635	Any process that activates or increases the frequency, rate or extent of the cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair.	
GO:0042634	regulation of hair cycle	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0042634	Any process that modulates the frequency, rate or extent of the cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair.	
HGNC:3356	ENPP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3356		
HGNC:3354	ENO3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3354		
GO:0030659	cytoplasmic vesicle membrane	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0030659	The lipid bilayer surrounding a cytoplasmic vesicle.	
GO:0030656	regulation of vitamin metabolic process	biolink:OntologyClass	mondo			regulation of vitamin metabolism	http://purl.obolibrary.org/obo/GO_0030656	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body.	
HP:0000118	Phenotypic abnormality	biolink:PhenotypicFeature	mondo	UMLS:C4021819		Organ abnormality	http://purl.obolibrary.org/obo/HP_0000118	A phenotypic abnormality.	
HP:0000119	Abnormality of the genitourinary system	biolink:PhenotypicFeature	mondo	MSH:D014564|UMLS:C0042063|SNOMEDCT_US:42030000|SNOMEDCT_US:287085006|UMLS:C4020895|UMLS:C0080276		Genitourinary dysplasia|Abnormality of the GU system|Genitourinary disease|Genitourinary abnormality|Urogenital abnormalities|Genitourinary tract anomalies|Urogenital anomalies|Genitourinary tract malformation	http://purl.obolibrary.org/obo/HP_0000119	The presence of any abnormality of the genitourinary system.	
GO:0005694	chromosome	biolink:OntologyClass	mondo			prophase chromosome|interphase chromosome|chromatid	http://purl.obolibrary.org/obo/GO_0005694	A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information.	
NCBITaxon:976	Bacteroidetes	organism taxon	mondo	PMID:29458499|PMID:11542017|PMID:26654112|PMID:28066339|GC_ID:11|PMID:11541229		Cytophaga-Flexibacter-Bacteroides phylum|Bacteroidota|Bacteroides-Cytophaga-Flexibacter group|CFB group|Bacteroidaeota|CFB group bacteria|BCF group	http://purl.obolibrary.org/obo/NCBITaxon_976		
HP:0000112	Nephropathy	biolink:PhenotypicFeature	mondo	MSH:D007674|UMLS:C1408258|UMLS:C0022658|SNOMEDCT_US:90708001		Kidney disease|Kidney damage	http://purl.obolibrary.org/obo/HP_0000112	A nonspecific term referring to disease or damage of the kidneys.	
HP:0000113	Polycystic kidney dysplasia	biolink:PhenotypicFeature	mondo	Fyler:4508|SNOMEDCT_US:82525005|UMLS:C1567435|UMLS:C0022680|MSH:D007690		Polycystic kidney disease|Polycystic kidneys|Enlarged polycystic kidneys	http://purl.obolibrary.org/obo/HP_0000113	The presence of multiple cysts in both kidneys.	
HP:0000123	Nephritis	biolink:PhenotypicFeature	mondo	UMLS:C0027697|MSH:D009393|SNOMEDCT_US:52845002		Kidney inflammation	http://purl.obolibrary.org/obo/HP_0000123	The presence of inflammation affecting the kidney.	
HP:0002789	Tachypnea	biolink:PhenotypicFeature	mondo	MSH:D059246|UMLS:C0231835|SNOMEDCT_US:271823003		Polypnea|Increased respiratory rate or depth of breathing	http://purl.obolibrary.org/obo/HP_0002789	Very rapid breathing.	
GO:0003018	vascular process in circulatory system	biolink:OntologyClass	mondo			vasculature process	http://purl.obolibrary.org/obo/GO_0003018	A circulatory process that occurs at the level of the vasculature.	
GO:0003014	renal system process	biolink:OntologyClass	mondo			kidney system process|excretory system process	http://purl.obolibrary.org/obo/GO_0003014	A organ system process carried out by any of the organs or tissues of the renal system. The renal system maintains fluid balance, and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. In humans, the renal system comprises a pair of kidneys, a pair of ureters, urinary bladder, urethra, sphincter muscle and associated blood vessels; in other species, the renal system may comprise related structures (e.g., nephrocytes and malpighian tubules in Drosophila).	
GO:0003013	circulatory system process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0003013	A organ system process carried out by any of the organs or tissues of the circulatory system. The circulatory system is an organ system that moves extracellular fluids to and from tissue within a multicellular organism.	
GO:0003016	respiratory system process	biolink:OntologyClass	mondo			respiratory gaseous exchange	http://purl.obolibrary.org/obo/GO_0003016	A process carried out by the organs or tissues of the respiratory system. The respiratory system is an organ system responsible for respiratory gaseous exchange.	
GO:0003015	heart process	biolink:OntologyClass	mondo			cardiac process	http://purl.obolibrary.org/obo/GO_0003015	A circulatory system process carried out by the heart. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood.	
HP:0002750	Delayed skeletal maturation	biolink:PhenotypicFeature	mondo	UMLS:C0541764|SNOMEDCT_US:123983008		Delayed bone age before puberty|Delayed bone maturation|Retarded ossification|Delayed skeletal development|Skeletal maturation retardation|Retarded bone age|Delayed bone age	http://purl.obolibrary.org/obo/HP_0002750	A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.	
HGNC:10057	RNF13	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10057		
HP:0002754	Osteomyelitis	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:60168000|SNOMEDCT_US:111253001|UMLS:C2242472|MSH:D010019|UMLS:C0029443		Bone infection	http://purl.obolibrary.org/obo/HP_0002754	Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.	
HGNC:10050	RNASEL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10050		
HP:0000107	Renal cyst	biolink:PhenotypicFeature	mondo	UMLS:C0022679|MSH:D052177|UMLS:C3887499		Renal cysts|Kidney cyst|Cystic kidney disease|Cystic kidneys	http://purl.obolibrary.org/obo/HP_0000107	A fluid filled sac in the kidney.	
HGNC:10069	RNF6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10069		
HGNC:34016	RNU4ATAC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/34016		
HGNC:24678	FTO	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24678		
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	biolink:PhenotypicFeature	mondo	UMLS:C4023024			http://purl.obolibrary.org/obo/HP_0012145		
GO:0005652	nuclear lamina	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0005652	The fibrous, electron-dense layer lying on the nucleoplasmic side of the inner membrane of a cell nucleus, composed of lamin filaments. The polypeptides of the lamina are thought to be concerned in the dissolution of the nuclear envelope and its re-formation during mitosis. The lamina is composed of lamin A and lamin C filaments cross-linked into an orthogonal lattice, which is attached via lamin B to the inner nuclear membrane through interactions with a lamin B receptor, an IFAP, in the membrane.	
HGNC:24671	FLAD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24671		
HP:0000153	Abnormality of the mouth	biolink:PhenotypicFeature	mondo	MSH:D009056|SNOMEDCT_US:128334002|UMLS:C0026633	hposlim_core	Abnormal mouth|Abnormality of the mouth	http://purl.obolibrary.org/obo/HP_0000153	An abnormality of the mouth.	
HGNC:12698	VLDLR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12698		
MONDO:0033282	multiple mitochondrial dysfunctions syndrome 5	biolink:Disease	mondo	UMLS:CN388855|OMIM:617613|DOID:0080274		multiple mitochondrial dysfunctions syndrome 5; MMDS5|MMDS5	http://purl.obolibrary.org/obo/MONDO_0033282		DOID:0080274|UMLS:CN388855|http://identifiers.org/omim/617613
HP:0000155	Oral ulcer	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:26284000|UMLS:C0149745|MSH:D019226	hposlim_core	Mouth ulcer|Mouth sore|Oral mucosal ulceration	http://purl.obolibrary.org/obo/HP_0000155	Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.	
MONDO:0033280	nephrotic syndrome 16	biolink:Disease	mondo	UMLS:CN651336|DOID:0080272|OMIM:617783		NPHS16|nephrotic syndrome, type 16|nephrotic syndrome 16; NPHS16	http://purl.obolibrary.org/obo/MONDO_0033280		DOID:0080272|UMLS:CN651336|http://identifiers.org/omim/617783
HP:0000157	Abnormality of the tongue	biolink:PhenotypicFeature	mondo	UMLS:C0878638	hposlim_core	Abnormality of the tongue|Glossal abnormality|Tongue abnormality|Abnormal tongue|Lingual abnormality	http://purl.obolibrary.org/obo/HP_0000157	Any abnormality of the tongue.	
MONDO:0033281	polycystic kidney disease 5	biolink:Disease	mondo	OMIM:617610|DOID:0080273		polycystic kidney disease caused by mutation in DZIP1L|DZIP1L polycystic kidney disease|PKD5|polycystic kidney disease 5; PKD5	http://purl.obolibrary.org/obo/MONDO_0033281	Any polycystic kidney disease in which the cause of the disease is a mutation in the DZIP1L gene.	DOID:0080273|http://identifiers.org/omim/617610
HP:0000159	Abnormal lip morphology	biolink:PhenotypicFeature	mondo	UMLS:C2183966		Anomaly of lip|Lip abnormality|Malformation of lip|Deformity of lip|Abnormal lip|Abnormality of the lip	http://purl.obolibrary.org/obo/HP_0000159	An abnormality of the lip.	
HP:0000152	Abnormality of head or neck	biolink:PhenotypicFeature	mondo	UMLS:C4021817		Head and neck abnormality|Abnormality of head or neck	http://purl.obolibrary.org/obo/HP_0000152	An abnormality of head and neck.	
HGNC:12692	VIM	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12692		
HGNC:10031	RMRP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10031		
GO:0003006	developmental process involved in reproduction	biolink:OntologyClass	mondo			puberty|reproductive developmental process	http://purl.obolibrary.org/obo/GO_0003006	A developmental process in which a progressive change in the state of some part of an organism specifically contributes to its ability to form offspring.	
GO:0003008	system process	biolink:OntologyClass	mondo			organ system process	http://purl.obolibrary.org/obo/GO_0003008	A multicellular organismal process carried out by any of the organs or tissues in an organ system. An organ system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a biological objective.	
HGNC:24682	FLVCR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24682		
HP:0000164	Abnormality of the dentition	biolink:PhenotypicFeature	mondo	MSH:D014071|UMLS:C0262444|SNOMEDCT_US:422775003|UMLS:C0040427	hposlim_core	Abnormal dentition|Dental problem|Dental problems|Dental abnormality|Tooth abnormalities|Abnormality of the teeth|Dental abnormalities|Dental anomalies|Abnormal teeth	http://purl.obolibrary.org/obo/HP_0000164	Any abnormality of the teeth.	
HP:0000168	Abnormality of the gingiva	biolink:PhenotypicFeature	mondo	UMLS:C4021816	hposlim_core	Abnormality of the gums|Gingival abnormality	http://purl.obolibrary.org/obo/HP_0000168	Any abnormality of the gingiva (also known as gums).	
NCBITaxon:29907	Sporothrix	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_29907		
NCBITaxon:29908	Sporothrix schenckii	organism taxon	mondo	GC_ID:1		Rhinocladium schenckii|Sporotrichum schenckii	http://purl.obolibrary.org/obo/NCBITaxon_29908		
HP:0000163	Abnormal oral cavity morphology	biolink:PhenotypicFeature	mondo	UMLS:C4025887		Abnormality of the oral cavity	http://purl.obolibrary.org/obo/HP_0000163	Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth.	
GO:0005634	nucleus	biolink:OntologyClass	mondo			cell nucleus|horsetail nucleus	http://purl.obolibrary.org/obo/GO_0005634	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.	
HGNC:24650	EHMT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24650		
HP:0000132	Menorrhagia	biolink:PhenotypicFeature	mondo	UMLS:C0025323|MSH:D008595|SNOMEDCT_US:386692008		Hypermenorrhea|Abnormally heavy bleeding during menstruation	http://purl.obolibrary.org/obo/HP_0000132	Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.	
HP:0002795	Functional respiratory abnormality	biolink:PhenotypicFeature	mondo	Fyler:4200|UMLS:C4025677		Functional respiratory abnormality|Abnormal respiration|Respiratory problem	http://purl.obolibrary.org/obo/HP_0002795		
HP:0002793	Abnormal pattern of respiration	biolink:PhenotypicFeature	mondo	UMLS:C1837388		Abnormal respiratory patterns|Abnormal pattern of respiration|Unusual breathing patterns	http://purl.obolibrary.org/obo/HP_0002793	An anomaly of the rhythm or depth of breathing.	
HGNC:10012	RHO	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10012		
HP:0000133	Gonadal dysgenesis	biolink:PhenotypicFeature	mondo	UMLS:C0687149|SNOMEDCT_US:38804009|SNOMEDCT_US:205681004|SNOMEDCT_US:83579008|UMLS:C0018055|MSH:D006060|UMLS:C0018051|MSH:D006059|SNOMEDCT_US:95219002		Mixed gonadal dysgenesis|Pure gonadal dysgenesis	http://purl.obolibrary.org/obo/HP_0000133		
HGNC:10013	GRK1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10013		
HP:0000135	Hypogonadism	biolink:PhenotypicFeature	mondo	UMLS:C0020619|SNOMEDCT_US:48130008|MSH:D007006		Decreased activity of gonads	http://purl.obolibrary.org/obo/HP_0000135	A decreased functionality of the gonad.	
HGNC:12679	VDR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12679		
HP:0002797	Osteolysis	biolink:PhenotypicFeature	mondo	MSH:D010014|UMLS:C0221204|SNOMEDCT_US:30425001|SNOMEDCT_US:203522001		Increased bone resorption|Osteolytic defects of bones|Breakdown of bone	http://purl.obolibrary.org/obo/HP_0002797	Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.	
HP:0000130	Abnormality of the uterus	biolink:PhenotypicFeature	mondo	UMLS:C0266383|SNOMEDCT_US:37849005|MSH:C562565		Uterine malformations|Abnormality of the uterus|Uterine abnormalities	http://purl.obolibrary.org/obo/HP_0000130	An abnormality of the uterus.	
HP:0012115	Hepatitis	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:128241005|UMLS:C0019158|MSH:D006505		Liver inflammation	http://purl.obolibrary.org/obo/HP_0012115	Inflammation of the liver.	
HP:0012116	Abnormal albumin level	biolink:PhenotypicFeature	mondo	UMLS:C4023036		Abnormal albumin level	http://purl.obolibrary.org/obo/HP_0012116	Deviation from normal concentration of albumin in the blood.	
HGNC:24668	CFHR5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24668		
HGNC:24669	FIGLA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24669		
HP:0000142	Abnormal vagina morphology	biolink:PhenotypicFeature	mondo	UMLS:C1856023		Vaginal malformation	http://purl.obolibrary.org/obo/HP_0000142	Any structural abnormality of the vagina.	
HGNC:12687	VHL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12687		
HGNC:10023	RIT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10023		
HP:0000144	Decreased fertility	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:17276009|UMLS:C0520927		Decreased fertility|Abnormal fertility	http://purl.obolibrary.org/obo/HP_0000144		
HGNC:10024	RLBP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10024		
HGNC:12680	VEGFA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12680		
HGNC:12682	VEGFC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12682		
HP:0000140	Abnormality of the menstrual cycle	biolink:PhenotypicFeature	mondo	UMLS:C4025888|UMLS:C3549779		Abnormality of the menstrual cycle|Menstrual abnormalities	http://purl.obolibrary.org/obo/HP_0000140	An abnormality of the ovulation cycle.	
MONDO:0021130	disorder of sphingolipid biosynthesis	biolink:Disease	mondo			inborn error of sphingolipid biosynthetic process|inborn sphingolipid biosynthetic process disorder|rare inborn error of sphingolipid biosynthetic process|rare inborn error of sphingolipid biosynthetic process	http://purl.obolibrary.org/obo/MONDO_0021130	An acquired metabolic disease that is has its basis in the disruption of sphingolipid biosynthetic process.	
CL:0000806	DN2 thymocyte	biolink:Cell	mondo			TN2 cell|DN2 cell|DN2 immature T cell|preT.DN2.Th|DN2 alpha-beta immature T-cell|TN2 thymocyte|double negative 2|DN2 alpha-beta immature T lymphocyte|DN2 alpha-beta immature T-lymphocyte	http://purl.obolibrary.org/obo/CL_0000806	A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-positive.	
CL:0000807	DN3 thymocyte	biolink:Cell	mondo			DN3 immature T cell|DN3 cell|TN3 cell|TN3 thymocyte|double negative 3|preT.DN3.Th|DN3 alpha-beta immature T-cell|DN3 alpha-beta immature T lymphocyte|early cortical thymocyte|DN3 alpha-beta immature T-lymphocyte	http://purl.obolibrary.org/obo/CL_0000807	A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-negative, and CD25-positive and expressing the T cell receptor beta-chain in complex with the pre-T cell receptor alpha chain.	
CL:0000808	DN4 thymocyte	biolink:Cell	mondo			DN4 immature T cell|DN4 immature T-cell|DN4 cell|double negative 4|DN4 alpha-beta immature T lymphocyte|early cortical thymocyte|T.DN4.th|DN4 alpha-beta immature T-lymphocyte	http://purl.obolibrary.org/obo/CL_0000808	A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-negative, CD25-negative, and pre-TCR-positive.	
CL:0000809	double-positive, alpha-beta thymocyte	biolink:Cell	mondo			late cortical thymocyte|DP thymocyte|double-positive, alpha-beta immature T lymphocyte|DP cell	http://purl.obolibrary.org/obo/CL_0000809	A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors.	
MONDO:0021138	bone marrow cancer	biolink:Disease	mondo	UMLS:C2703042|NCIT:C35501		malignant neoplasm of bone marrow|malignant bone marrow tumor|malignant bone marrow neoplasm|cancer of bone marrow|bone marrow cancer	http://purl.obolibrary.org/obo/MONDO_0021138	Malignant neoplasms that either originate from the bone marrow (e.g. myeloid leukemias) or involve the bone marrow as secondary-metastatic tumors (e.g. metastatic carcinomas to the bone marrow). --2003	UMLS:C2703042|NCIT:C35501
MONDO:0021137	not rare	biolink:Disease	mondo			common	http://purl.obolibrary.org/obo/MONDO_0021137		
MONDO:0008158	dacryocystitis-osteopoikilosis syndrome	biolink:Disease	mondo	GARD:0000351|OMIM:166705|SCTID:721082002|Orphanet:1562|UMLS:C1833698|MESH:C536061	ordo_malformation_syndrome	dacryocystitis osteopoikilosis|osteopoikilosis and dacryocystitis|Gunal Seber Basaran syndrome|Gunal-Seber-Basaran syndrome	http://purl.obolibrary.org/obo/MONDO_0008158	Dacryocystitis - osteopoikilosis is an exceedingly rare autosomal dominant disorder reported in only a few patients to date and is characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedr adiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter).	UMLS:C1833698|MESH:C536061|ORPHA:1562|http://identifiers.org/omim/166705|SNOMEDCT:721082002
MONDO:0021136	rare	biolink:Disease	mondo			rare (European definition)	http://purl.obolibrary.org/obo/MONDO_0021136	A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000. A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time. Here we take the European definition to be consistent with Orphanet.	
MONDO:0060733	humerofemoral hypoplasia with radiotibial ray deficiency	biolink:Disease	mondo	OMIM:618022|UMLS:CN248526		HHRRD|Hfhrtrd|humerofemoral hypoplasia with radiotibial ray deficiency; HHRRD	http://purl.obolibrary.org/obo/MONDO_0060733		http://identifiers.org/omim/618022|UMLS:CN248526
MONDO:0008159	postmenopausal osteoporosis	biolink:Disease	mondo	UMLS:C0029458|EFO:0003854|COHD:4010333|SCTID:102447009|MESH:D015663		osteoporosis, postmenopausal|bone mineral density quantitative trait locus	http://purl.obolibrary.org/obo/MONDO_0008159	Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency.	MESH:D015663|SNOMEDCT:102447009|UMLS:C0029458
MONDO:0060732	tetraamelia syndrome 2	biolink:Disease	mondo	OMIM:618021		tetraamelia syndrome 2 with pulmonary agenesis|tetraamelia syndrome 2; TETAMS2|TETAMS2	http://purl.obolibrary.org/obo/MONDO_0060732		http://identifiers.org/omim/618021
MONDO:0021135	rare or common	biolink:Disease	mondo		obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0021135		
MONDO:0008156	autosomal dominant osteopetrosis 2	biolink:Disease	mondo	GARD:0000383|DOID:0110938|OMIM:166600|SCTID:725050005|UMLS:C3179239|Orphanet:53|ICD10:Q78.2	ordo_malformation_syndrome	Albers-Schönberg osteopetrosis|Albers-Schonberg disease, autosomal dominant|Albers-Schonberg osteopetrosis|marble bones, autosomal dominant|osteopetrosis, autosomal dominant, type 2|osteopetrosis, autosomal dominant type 2|autosomal dominant Albers-Schonberg disease|osteopetrosis, autosomal dominant 2|osteopetrosis, autosomal dominant 2; OPTA2|autosomal dominant osteopetrosis type II|osteosclerosis Fragilis generalisata|autosomal dominant osteopetrosis type 2|osteopetrosis autosomal dominant type 2|OPTA2	http://purl.obolibrary.org/obo/MONDO_0008156	Albers-Schoenberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).	http://identifiers.org/omim/166600|SNOMEDCT:725050005|DOID:0110938|ORPHA:53|UMLS:C3179239
MONDO:0021134	acquired factor X deficiency	biolink:Disease	mondo	NCIT:C131626|ICD9:286.9|UMLS:C0272328|SCTID:33820001		acquired factor X deficiency	http://purl.obolibrary.org/obo/MONDO_0021134	An bleeding disorder with a decreased antigen and/or activity of factor X (FX) that is acquired. Acquired factor X deficiency is a rare disorder, commonly associated with a preceding viral illness and a circulating FX inhibitor. Although multiple treatment modalities have been described with variable success, in many cases, it is a self-limited condition.	NCIT:C131626|UMLS:C0272328|SNOMEDCT:33820001
MONDO:0008157	Buschke-Ollendorff syndrome	biolink:Disease	mondo	GARD:0001044|MESH:C537415|DOID:0111536|OMIM:166700|ICD10:Q78.8|Orphanet:1306	ordo_malformation_syndrome	dermatofibrosis, disseminated with osteopoikilosis|disseminated dermatofibrosis with osteopoikilosis|dermatofibrosis lenticularis disseminata, isolated|osteopathia condensans disseminata|Buschke-Ollendorff syndrome|Bos|osteopoikilosis with melorheostosis|dermatofibrosis, disseminated, with osteopoikilosis|Buschke Ollendorff syndrome|Buschke-Ollendorff syndrome; Bos|Dermatoosteopoikilosis|dermatofibrosis lenticularis disseminata with osteopoikilosis|osteopoikilosis, isolated	http://purl.obolibrary.org/obo/MONDO_0008157	Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.	ORPHA:1306|MESH:C537415|http://identifiers.org/omim/166700|DOID:0111536
MONDO:0021133	acquired factor XIII deficiency	biolink:Disease	mondo	UMLS:C0238120|NCIT:C131629		acquired factor XIII deficiency	http://purl.obolibrary.org/obo/MONDO_0021133	An acquired coagulation disorder due to reduced levels and activity of factor XIII.	NCIT:C131629|UMLS:C0238120
MONDO:0008154	osteomas of mandible	biolink:Disease	mondo	OMIM:166400|UMLS:C1833733|MESH:C563485		osteomas of mandible	http://purl.obolibrary.org/obo/MONDO_0008154		UMLS:C1833733|http://identifiers.org/omim/166400|MESH:C563485
MONDO:0021132	tertiary hyperparathyroidism	biolink:Disease	mondo	SCTID:78200003|NCIT:C114821|UMLS:C0271858|ICD9:588.89		tertiary hyperparathyroidism	http://purl.obolibrary.org/obo/MONDO_0021132	An overproduction of parathyroid hormone that is autonomous and often associated with chronic secondary hyperparathyroidism.	NCIT:C114821|SNOMEDCT:78200003|UMLS:C0271858
MONDO:0021131	frontal lobe ependymal tumor	biolink:Disease	mondo	NCIT:C131573|UMLS:C4330009		frontal lobe ependymal tumor|ependymal tumor of frontal lobe	http://purl.obolibrary.org/obo/MONDO_0021131	An ependymal tumor affecting the frontal lobe of the brain.	NCIT:C131573|UMLS:C4330009
MONDO:0008155	osteomesopyknosis	biolink:Disease	mondo	UMLS:C0432264|OMIM:166450|ICD10:Q78.2|SCTID:254125009|Orphanet:2777|MESH:C537792|GARD:0000391	ordo_malformation_syndrome|gard_rare	osteomesopyknosis|axial osteosclerosis	http://purl.obolibrary.org/obo/MONDO_0008155	Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content.	SNOMEDCT:254125009|ORPHA:2777|http://identifiers.org/omim/166450|MESH:C537792|UMLS:C0432264
CL:0000805	immature single positive thymocyte	biolink:Cell	mondo			immature single positive T lymphocyte|immature single positive T-lymphocyte|ISP|T.ISP.th|immature single positive T cell	http://purl.obolibrary.org/obo/CL_0000805	A thymocyte that has the phenotype CD4-negative, CD8-positive, CD44-negative, CD25-negative, and pre-TCR-positive.	
MONDO:0008152	multicentric carpo-tarsal osteolysis with or without nephropathy	biolink:Disease	mondo	UMLS:C2674705|SCTID:766992008|OMIM:166300|DOID:0111534|Orphanet:2774|GARD:0003818|GARD:0013042|MESH:C567171	ordo_malformation_syndrome|gard_rare	multicentric osteolysis nephropathy|Carnevale canun Mendoza syndrome|multicentric carpotarsal osteolysis syndrome|MCTO|idiopathic multicentric osteolysis with or without nephropathy|multicentric carpotarsal osteolysis syndrome; MCTO|osteolysis, hereditary, of carpal bones with or without nephropathy|multicentric carpo-tarsal osteolysis with or without nephropathy|multicentric osteolysis, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008152	Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.	MESH:C567171|SNOMEDCT:766992008|ORPHA:2774|http://identifiers.org/omim/166300|DOID:0111534|UMLS:C2674705
MONDO:0008153	progressive osseous heteroplasia	biolink:Disease	mondo	OMIM:166350|SCTID:719271000|ICD10:M61.5|UMLS:C0334041|DOID:0111535|MedDRA:10048902|Orphanet:2762|MESH:C562735|GARD:0000109	ordo_malformation_syndrome|gard_rare	osteoma cutis|poh|osseous heteroplasia, progressive|osseous heteroplasia, progressive; poh|familial ectopic ossification|ectopic ossification familial type|ectopic ossification, familial	http://purl.obolibrary.org/obo/MONDO_0008153	A rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation.	ORPHA:2762|http://identifiers.org/omim/166350|MEDDRA:10048902|DOID:0111535|SNOMEDCT:719271000|MESH:C562735|UMLS:C0334041
HGNC:12775	WNT10B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12775		
MONDO:0008150	osteoglophonic dwarfism	biolink:Disease	mondo	OMIM:166250|ICD10:Q87.1|GARD:0004142|SCTID:254144002|Orphanet:2645|DOID:0111532|MESH:C536050	ordo_malformation_syndrome	OGD|osteoglophonic dwarfism|Osteoglosphonic dysplasia|OSTEOGLOPHONIC dysplasia; OGD|Fairbank-Keats syndrome|OSTEOGLOPHONIC dysplasia	http://purl.obolibrary.org/obo/MONDO_0008150	Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.	ORPHA:2645|http://identifiers.org/omim/166250|MESH:C536050|DOID:0111532|UMLS:C0432283|SNOMEDCT:254144002
HGNC:12774	WNT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12774		
MONDO:0008151	gnathodiaphyseal dysplasia	biolink:Disease	mondo	OMIM:166260|MESH:C536039|UMLS:C1833736|DOID:0111533|Orphanet:53697|GARD:0008698|SCTID:715568002	ordo_malformation_syndrome	osteogenesis imperfecta with unusual skeletal lesions|gnathodiaphyseal dysplasia|Levin syndrome 2|osteogenesis imperfecta Levin type|GDD|GNATHODIAPHYSEAL dysplasia; GDD|Gnathodiaphyseal sclerosis	http://purl.obolibrary.org/obo/MONDO_0008151	Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission.	UMLS:C1833736|http://identifiers.org/omim/166260|MESH:C536039|DOID:0111533|SNOMEDCT:715568002|ORPHA:53697
MONDO:0021129	microphthalmia	biolink:Disease	mondo	ICD9:743.1|EFO:0005569|COHD:376512|HP:0000568|NCIT:C98989|ICD9:743.11|MESH:D008850|OMIMPS:600165|ICD10:Q11.2|DOID:10629|ICD9:743.10|SCTID:204108000		microphthalmos|nanophthalmos|microphthalmia|nanophthalmia|nanophthalmos|simple microphthalmos|nanophthalmia	http://purl.obolibrary.org/obo/MONDO_0021129	Congenital or developmental anomaly in which the eyeballs are abnormally small.	MESH:D008850|NCIT:C98989|SNOMEDCT:204108000|DOID:10629
MONDO:0021128	has an isolated presentation	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021128	An characteristic of a disease in which the disease is manifested as an isolated feature.	
MONDO:0033123	exudative vitreoretinopathy 7	biolink:Disease	mondo	DOID:0080264|OMIM:617572|UMLS:CN321863		EVR7|exudative vitreoretinopathy 7; EVR7	http://purl.obolibrary.org/obo/MONDO_0033123		http://identifiers.org/omim/617572|DOID:0080264|UMLS:CN321863
HGNC:12771	CCN6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12771		
CL:0000817	precursor B cell	biolink:Cell	mondo	BTO:0001133|CALOHA:TS-0819		pre-B cell	http://purl.obolibrary.org/obo/CL_0000817	A precursor B cell is a B cell with the phenotype CD10-positive.	
CL:0000818	transitional stage B cell	biolink:Cell	mondo			transitional B cell|transitional stage B-lymphocyte|T1 B cell|T2 B cell|T3 B cell|transitional stage B-cell|transitional stage B lymphocyte	http://purl.obolibrary.org/obo/CL_0000818	An immature B cell of an intermediate stage between the pre-B cell stage and the mature naive stage with the phenotype surface IgM-positive and CD19-positive, and are subject to the process of B cell selection. A transitional B cell migrates from the bone marrow into the peripheral circulation, and then to the spleen.	
CL:0000819	B-1 B cell	biolink:Cell	mondo			B1 B-cell|B1 B lymphocyte|B-1 cell|B1 B-lymphocyte|B-1 B-cell|B-1 B lymphocyte|B-1 B-lymphocyte|B1 cell|B1 B cell	http://purl.obolibrary.org/obo/CL_0000819	A B cell of distinct lineage and surface marker expression. B-1 B cells are thought to be the primary source of natural IgM immunoglobulin, that is, IgM produced in large quantities without prior antigenic stimulation and generally reactive against various microorganisms, as well as the source of T-independent IgA immunoglobulin in the mucosal areas. These cells are CD43-positive.	
MONDO:0060729	protoporphyria, erythropoietic, 2	biolink:Disease	mondo	OMIM:618015|UMLS:CN248523		EPP2|protoporphyria, erythropoietic, 2; EPP2	http://purl.obolibrary.org/obo/MONDO_0060729		http://identifiers.org/omim/618015|UMLS:CN248523
MONDO:0060724	glycosylphosphatidylinositol biosynthesis defect 17	biolink:Disease	mondo	OMIM:618010|UMLS:CN248527		GPIBD17|glycosylphosphatidylinositol biosynthesis defect 17; GPIBD17	http://purl.obolibrary.org/obo/MONDO_0060724		UMLS:CN248527|http://identifiers.org/omim/618010
MONDO:0021127	has a syndromic presentation	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021127	An characteristic of a disease in which the disease is not manifested as an isolated feature but has multiple distinct features.	
MONDO:0021126	syndromic or isolated	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021126	An characteristic of a disease that varies depending on whether the disease appears as an isolated feature or whether the disease is a syndrome consisting of multiple features.	
CL:0000810	CD4-positive, alpha-beta thymocyte	biolink:Cell	mondo			CD4-positive, alpha-beta immature T-cell|CD4-positive, alpha-beta immature T lymphocyte|SP CD4 cell|CD4-positive, alpha-beta immature T-lymphocyte	http://purl.obolibrary.org/obo/CL_0000810	An immature alpha-beta T cell that is located in the thymus and is CD4-positive and CD8-negative.	
MONDO:0008169	osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension	biolink:Disease	mondo	UMLS:C1833688|MESH:C563478|OMIM:166990|GARD:0002277		osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension|osteochondrodysplasia with rhizomelia, platyspondyly, callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension	http://purl.obolibrary.org/obo/MONDO_0008169		UMLS:C1833688|http://identifiers.org/omim/166990|MESH:C563478
MONDO:0021125	disease characteristic	biolink:Disease	mondo	NCIT:C41009		qualifier|disease qualifier|modifier	http://purl.obolibrary.org/obo/MONDO_0021125	An attribute of a disease.	NCIT:C41009
MONDO:0060722	obsolete neurodevelopmental disorder with brain, liver, and lung abnormalities	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0060722		
CL:0000811	CD8-positive, alpha-beta thymocyte	biolink:Cell	mondo			CD8-positive, alpha-beta immature T-cell|CD8-positive, alpha-beta immature T lymphocyte|CD8-positive, alpha-beta immature T cell|SP CD8 cell|CD8-positive, alpha-beta immature T-lymphocyte	http://purl.obolibrary.org/obo/CL_0000811	An immature alpha-beta T cell that is located in the thymus and is CD8-positive and CD4-negative.	
MONDO:0021124	female infertility	biolink:Disease	mondo	SCTID:6738008|MESH:D007247|UMLS:C0341869|ICD9:628.9|COHD:201909|ICD9:628.8|EFO:0008560|ICD10:N97		female sterility|female sub-fertility|postpartum sterility|female infertility|female reproductive system infertility disorder|female reproductive system infertility|female subfertility|sub-fertility, female|sterility, female|sterility, postpartum|infertility disorder of female reproductive system|subfertility, female|sub fertility, female	http://purl.obolibrary.org/obo/MONDO_0021124	Diminished or absent ability of a female to achieve conception.	MESH:D007247|SNOMEDCT:6738008|UMLS:C0341869
MONDO:0021123	Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone	biolink:Disease	mondo	NCIT:C35871|UMLS:C1333481		Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone|bone tissue Ewing sarcoma/peripheral primitive neuroectodermal tumor|Ewing's sarcoma/peripheral primitive neuroectodermal tumor of bone	http://purl.obolibrary.org/obo/MONDO_0021123	A spectrum of malignant tumors arising from the bone and characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms.	NCIT:C35871|UMLS:C1333481
MONDO:0008167	dermoid cyst of ovary	biolink:Disease	mondo	DOID:5117|NCIT:C3856|OMIM:166950|MESH:C562731|UMLS:C0237020		dermoid cyst, ovarian|dermoid cyst of the ovary|dermoid cyst of ovary|dermoid cyst|ovarian dermoid cyst|teratoma, ovarian|ovary dermoid cyst|dermoid cyst (& [ovarian])	http://purl.obolibrary.org/obo/MONDO_0008167	A cystic teratoma that arises from the ovary. It presents as a cystic mass that contains sebaceous material admixed with hairs. In a minority of cases it is bilateral.	UMLS:C0237020|NCIT:C3856|DOID:5117|http://identifiers.org/omim/166950|MESH:C562731
MONDO:0060720	congenital disorder of glycosylation with defective fucosylation	biolink:Disease	mondo	OMIMPS:618005|UMLS:CN248517		congenital disorder of glycosylation with defective fucosylation; CDGF|CDGF	http://purl.obolibrary.org/obo/MONDO_0060720		UMLS:CN248517
MONDO:0008168	ovarian fibroma (disease)	biolink:Disease	mondo	OMIM:166970|NCIT:C3498|SCTID:254865006|ICD10:D27|MESH:C562391|MedDRA:10064257|UMLS:C0149951|Orphanet:314473|HP:0010618	ordo_disease	fibroma of the ovary|fibroma of ovary|ovarian fibromata|ovarian fibroma	http://purl.obolibrary.org/obo/MONDO_0008168	A benign neoplasm arising from soft tissue of the ovary. It is characterized by the presence of spindle-shaped fibroblasts.	SNOMEDCT:254865006|MEDDRA:10064257|http://identifiers.org/omim/166970|ORPHA:314473|MESH:C562391|NCIT:C3498|UMLS:C0149951
MONDO:0021122	obsolete small cell neuroendocrine carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021122		
MONDO:0021121	hemangioendothelioma	biolink:Disease	mondo	GARD:0006557|NCIT:C3084|ICDO:9130/1|UMLS:C0018915|SCTID:403980002|MESH:D006390		hemangioendothelioma|angioendothelioma	http://purl.obolibrary.org/obo/MONDO_0021121	A vascular proliferation characterized by the presence of prominent endothelial cells and the formation of vascular channels. Hemangioendotheliomas may display borderline or low grade characteristics.	SNOMEDCT:403980002|MESH:D006390|UMLS:C0018915|NCIT:C3084
MONDO:0008165	southeast Asian ovalocytosis	biolink:Disease	mondo	UMLS:C1833690|UMLS:C1862323|Orphanet:98868|OMIM:166900|SCTID:191169008|ICD10:D58.1|ICD9:282.1	ordo_disease	Melanesian ovalocytosis|elliptocytosis, stomatocytic hereditary|hereditary ovalocytosis|ovalocytosis, southeast Asian; sao|sao|ovalocytosis, hereditary hemolytic|he, stomatocytic|Melanesian elliptocytosis|ovalocytosis, southeast Asian|elliptocytosis 4|ovalocytosis, Malaysian-Melanesian-Filipino type|stomatocytic elliptocytosis	http://purl.obolibrary.org/obo/MONDO_0008165	Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones.	UMLS:C1833690|SNOMEDCT:191169008|ORPHA:98868|http://identifiers.org/omim/166900|UMLS:C1862323
MONDO:0008166	ovalocytosis, hereditary hemolytic, with defective erythropoiesis	biolink:Disease	mondo	MESH:C563479|UMLS:C1833689|OMIM:166910		ovalocytosis, hereditary hemolytic, with defective erythropoiesis	http://purl.obolibrary.org/obo/MONDO_0008166		UMLS:C1833689|http://identifiers.org/omim/166910|MESH:C563479
MONDO:0021120	functioning endocrine neoplasm	biolink:Disease	mondo	ICDO:8158/1|UMLS:C2986655|NCIT:C94759		functioning endocrine neoplasm|functioning tumor	http://purl.obolibrary.org/obo/MONDO_0021120	A hormone producing endocrine neoplasm, associated with a hormonal syndrome.	UMLS:C2986655|NCIT:C94759
CL:0000816	immature B cell	biolink:Cell	mondo			newly formed B cell|immature B-cell|immature B lymphocyte|immature B-lymphocyte	http://purl.obolibrary.org/obo/CL_0000816	An immature B cell is a B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation.	
MONDO:0008163	otofaciocervical syndrome	biolink:Disease	mondo	GARD:0004169|ICD10:Q87.0|UMLS:C1833691|OMIMPS:166780|Orphanet:2792|DC:0000698	prototype_pattern|ordo_malformation_syndrome	Fara-Chlupackova syndrome|OFC syndrome	http://purl.obolibrary.org/obo/MONDO_0008163	Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.	ORPHA:2792|UMLS:C2931416|UMLS:C1833691
MONDO:0008164	OTSC1	biolink:Disease	mondo	UMLS:CN032031|OMIM:166800		OTSC1|OTS|otosclerosis 1; OTSC1|otosclerosis 1	http://purl.obolibrary.org/obo/MONDO_0008164		http://identifiers.org/omim/166800|UMLS:CN032031
HGNC:12786	WNT7A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12786		
MONDO:0008161	otodental syndrome	biolink:Disease	mondo	Orphanet:2791|OMIM:166750|GARD:0004168|ICD10:K00.2|SCTID:707310009|UMLS:C1833693	ordo_malformation_syndrome	otodental syndrome|oculootodental syndrome|otodental syndrome with coloboma|otodental dysplasia|chromosome 11q13 deletion syndrome|globodontia	http://purl.obolibrary.org/obo/MONDO_0008161	Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.	ORPHA:2791|http://identifiers.org/omim/166750|SNOMEDCT:707310009|UMLS:C1833693
MONDO:0008162	otitis media, susceptibility to	biolink:Disease	mondo	OMIM:166760	predisposition	OMS|otitis Media, chronic/recurrent|come/Rom|otitis media, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0008162		http://identifiers.org/omim/166760
HGNC:12784	WNT5A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12784		
MONDO:0021119	non-functioning endocrine neoplasm	biolink:Disease	mondo	NCIT:C94760|UMLS:C2986656		non-functioning endocrine neoplasm|nonfunctioning tumor|nonfunctional Endocrine neoplasm|endocrine-inactive tumor	http://purl.obolibrary.org/obo/MONDO_0021119	A hormone producing or non-producing endocrine neoplasm, not associated with a hormonal syndrome.	NCIT:C94760|UMLS:C2986656
MONDO:0008160	osteosclerosis with ichthyosis and fractures	biolink:Disease	mondo	UMLS:C1833697|MESH:C563483|OMIM:166740		osteosclerosis with ichthyosis and fractures|cortical thickening of long bones with bowing and ichthyosis	http://purl.obolibrary.org/obo/MONDO_0008160		http://identifiers.org/omim/166740|MESH:C563483|UMLS:C1833697
MONDO:0021118	intestinal neoplasm	biolink:Disease	mondo	NCIT:C3141|DOID:4610|ONCOTREE:BOWEL|SCTID:126769007		intestinal tumor|tumor of intestine|bowel neoplasm|intestinal neoplasms|intestinal benign neoplasm|tumor of intestines|tumor of the intestines|intestine neoplasm|intestinal neoplasm|neoplasm of intestine|intestine tumor|intestinal tumors|intestine growth|neoplasm of intestinal tract|neoplasm of intestines|intestine neoplasm (disease)|neoplasm of the intestines	http://purl.obolibrary.org/obo/MONDO_0021118	A benign or malignant neoplasm involving the small or large intestine.	DOID:4610|NCIT:C3141|SNOMEDCT:126769007
MONDO:0021117	lung neoplasm	biolink:Disease	mondo	NCIT:C3200|ONCOTREE:LUNG|MESH:D008175		lung tumor|tumor of the lung|neoplasms, pulmonary|neoplasms, lung|lung neoplasm|lung neoplasm (disease)|tumor of lung|lung|neoplasm, lung|neoplasm of the lung|lung neoplasms|neoplasm, pulmonary|neoplasm of lung	http://purl.obolibrary.org/obo/MONDO_0021117	A benign or malignant, primary or metastatic neoplasm involving the lungs. Representative examples of benign neoplasms include adenoma, papilloma, chondroma, and endobronchial lipoma. Representative examples of malignant neoplasms include carcinoma, carcinoid tumor, sarcoma, and lymphoma.	MESH:D008175|NCIT:C3200
UBERON_CORE:posteriorly_connected_to	posteriorly connected to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/uberon/core#posteriorly_connected_to	x posteriorly_connected_to y iff the posterior part of x is connected to y. i.e. x connected_to y and x anterior_to y.	
HGNC:12783	WNT4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12783		
MONDO:0033135	Charcot-Marie-Tooth disease, demyelinating, type 1G	biolink:Disease	mondo	OMIM:618279|DOID:0111560|Orphanet:476394	ordo_disease	PMP2-related Charcot-Marie-Tooth disease type 1|CMT1G|Charcot-Marie-Tooth disease, demyelinating, type 1G	http://purl.obolibrary.org/obo/MONDO_0033135	A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs.	ORPHA:476394|http://identifiers.org/omim/618279|DOID:0111560
HGNC:12782	WNT3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12782		
MONDO:0060759	neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	biolink:Disease	mondo	OMIM:618088		neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures; NEDAMSS|NEDAMSS	http://purl.obolibrary.org/obo/MONDO_0060759		http://identifiers.org/omim/618088
MONDO:0060758	spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	biolink:Disease	mondo	OMIM:618087		SCA42ND|spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits; SCA42ND	http://purl.obolibrary.org/obo/MONDO_0060758		http://identifiers.org/omim/618087
MONDO:0008138	syndromic orbital border hypoplasia	biolink:Disease	mondo	MESH:C563490|SCTID:717337001|Orphanet:98606|UMLS:C4273912|UMLS:C1833795|OMIM:165600	ordo_malformation_syndrome	Urrets-Zavalia syndrome|orbital margin, hypoplasia OF	http://purl.obolibrary.org/obo/MONDO_0008138	Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct.	SNOMEDCT:717337001|UMLS:C1833795|UMLS:C4273912|ORPHA:98606|http://identifiers.org/omim/165600|MESH:C563490
MONDO:0021116	luminal A breast carcinoma	biolink:Disease	mondo	UMLS:C3642345|NCIT:C53554		Luminal A breast cancer|Luminal A breast carcinoma|Luminal A|Luminal A estrogen receptor positive subtype of breast carcinoma|Luminal A subtype of breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0021116	A biologic subset of breast carcinoma defined by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. This subtype of breast cancer is associated with a good prognosis.	UMLS:C3642345|NCIT:C53554
MONDO:0008139	OSLAM syndrome	biolink:Disease	mondo	OMIM:165660|Orphanet:2760|MESH:C537138|ICD10:C41.9|UMLS:C1833792|GARD:0004129|SCTID:733064004	ordo_malformation_syndrome	OSLAM syndrome|osteosarcoma, limb anomalies, and erythroid macrocytosis with megaloblastic marrow|osteosarcoma, limb anomalies, and macrocytosis|osteosarcoma-limb anomalies-erythroid macrocytosis syndrome|osteosarcoma, limb anomalies (clinodactyly, absence of digital ray in foot, bilateral radioulnar synostosis) and macrocytosis without anemia	http://purl.obolibrary.org/obo/MONDO_0008139	OSLAM syndrome is characterised by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anaemia.	UMLS:C1833792|MESH:C537138|ORPHA:2760|SNOMEDCT:733064004|http://identifiers.org/omim/165660
MONDO:0021115	luminal B breast carcinoma	biolink:Disease	mondo	NCIT:C53555|UMLS:C3642346		Luminal B breast cancer|Luminal B|Luminal B breast carcinoma|Luminal B subtype of breast carcinoma|Luminal B estrogen receptor positive subtype of breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0021115	A biologic subset of breast carcinoma defined by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. This subtype of breast cancer is associated with a good prognosis, although not as favorable as the luminal A subtype.	UMLS:C3642346|NCIT:C53555
MONDO:0011789	familial meningioma	biolink:Disease	mondo	UMLS:C1333989|MESH:C537443|DOID:4586|OMIM:607174|NCIT:C5301		hereditary meningioma (disease)|familial meningioma|susceptibility to familial meningioma|meningioma, familial, susceptibility to|hereditary meningioma	http://purl.obolibrary.org/obo/MONDO_0011789	A meningioma that is transmitted from the parents to an offspring.	http://identifiers.org/omim/607174|MESH:C537443|UMLS:C1333989|DOID:4586|NCIT:C5301
MONDO:0008136	isolated optic nerve hypoplasia	biolink:Disease	mondo	DOID:0111531|OMIM:165550|UMLS:C1833797|SCTID:724999003|GARD:0008419|ICD10:H47.0|Orphanet:137902|UMLS:C4510723	ordo_disease	optic nerve hypoplasia, familial bilateral|familial bilateral optic nerve hypoplasia|optic nerve aplasia, bilateral|optic nerve hypoplasia, bilateral|isolated optic nerve hypoplasia/aplasia	http://purl.obolibrary.org/obo/MONDO_0008136		UMLS:C4510723|SNOMEDCT:724999003|UMLS:C1833797|ORPHA:137902|http://identifiers.org/omim/165550|DOID:0111531
MONDO:0021114	Bartholin gland neoplasm	biolink:Disease	mondo	NCIT:C6434		neoplasm of the Bartholin's gland|neoplasm of Bartholin's gland|Bartholin's gland tumor|major vestibular gland neoplasm|neoplasm of major vestibular gland|major vestibular gland tumor|tumor of the Bartholin's gland|Bartholin's gland neoplasm|tumor of Bartholin's gland|Bartholin gland neoplasm|major vestibular gland neoplasm (disease)|tumor of major vestibular gland	http://purl.obolibrary.org/obo/MONDO_0021114	A benign or malignant neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma.	NCIT:C6434
MONDO:0021113	respiratory failure	biolink:Disease	mondo	DOID:11162|ICD10:J96.0|NCIT:C26872|SCTID:39871006|MESH:D012131|ICD9:518.81|UMLS:C1145670|ICD9:518.83		acute respiratory failure|respiratory failure|respiratory insufficiency/failure|acute-on-chronic respiratory failure|chronic respiratory failure|failure, respiratory|acute and chronic respiratory failure	http://purl.obolibrary.org/obo/MONDO_0021113	The significant impairment of gas exchange within the lungs resulting in hypoxia, hypercarbia, or both, to the extent that organ tissue perfusion is severely compromised. Causes include chronic obstructive pulmonary disease, asthma, emphysema, acute respiratory distress syndrome, pneumonia, pulmonary edema, pneumothorax, and congestive heart failure. Treatment requires intubation and mechanical ventilation until the time the lungs recover sufficient function.	MESH:D012131|UMLS:C1145670|DOID:11162|NCIT:C26872|SNOMEDCT:39871006
MONDO:0008137	orofaciodigital syndrome X	biolink:Disease	mondo	UMLS:C1833796|Orphanet:2756|MESH:C563491|DOID:0060380|GARD:0004061|OMIM:165590|SCTID:722075004|ICD10:Q87.0	ordo_malformation_syndrome|gard_rare	oral-facial-digital syndrome type 10|orofaciodigital syndrome 10|oral facial digital syndrome 10|oral-facial-digital syndrome 10|Figuera syndrome|orofaciodigital syndrome type Figuera|orofaciodigital syndrome type X|oral facial digital syndrome type 10|oral-Facial-digital syndrome with fibular aplasia|orofaciodigital syndrome type 10|Ofds 10|OFD10|orofaciodigital syndrome with fibular aplasia|OFD syndrome 10|oral-Facial-digital syndrome, type 10|orofaciodigital syndrome X; OFD10|orofaciodigital syndrome X	http://purl.obolibrary.org/obo/MONDO_0008137	Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993.	UMLS:C1833796|SNOMEDCT:722075004|ORPHA:2756|http://identifiers.org/omim/165590|DOID:0060380|MESH:C563491
HP:0002912	Methylmalonic acidemia	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:42393006|MSH:C537358|UMLS:C0268583		Elevated circulating methylmalonic acid concentration	http://purl.obolibrary.org/obo/HP_0002912	Increased concentration of methylmalonic acid in the blood.	
MONDO:0008134	autosomal dominant optic atrophy, classic form	biolink:Disease	mondo	DOID:0111441|ICD10:H47.2|GARD:0009890|Orphanet:98673|SCTID:717336005|UMLS:CN207069|OMIM:165500	ordo_disease	optic atrophy type 1|OAK|optic atrophy 1; OPA1|optic atrophy, juvenile|OPA1|optic atrophy, Kjer type|Kjer optic atrophy|autosomal dominant optic atrophy, Kjer type|optic atrophy 1|Kjer-type optic atrophy	http://purl.obolibrary.org/obo/MONDO_0008134	Autosomal dominant optic atrophy (ADOA) is one of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disc pallor, visual field and color vision defects.	SNOMEDCT:717336005|ORPHA:98673|UMLS:CN207069|DOID:0111441|http://identifiers.org/omim/165500
MONDO:0021112	scrotum cancer	biolink:Disease	mondo	NCIT:C3560|SCTID:363454002|ICD9:187.7|UMLS:C0153604		malignant scrotum neoplasm|cancer of scrotum|malignant scrotal tumor|malignant neoplasm of scrotum|malignant neoplasm of the scrotum|malignant tumor of the scrotum|scrotum cancer|malignant tumor of scrotum|malignant scrotal neoplasm	http://purl.obolibrary.org/obo/MONDO_0021112	A primary or metastatic malignant neoplasm affecting the scrotum.	UMLS:C0153604|NCIT:C3560|SNOMEDCT:363454002
HP:0002917	Hypomagnesemia	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:190855004|UMLS:C0151723		Low blood magnesium levels|Low blood Mg levels	http://purl.obolibrary.org/obo/HP_0002917	An abnormally decreased magnesium concentration in the blood.	
MONDO:0008135	optic atrophy with negative Electroretinograms	biolink:Disease	mondo	OMIM:165510|UMLS:C1833799|MESH:C563494		optic atrophy with negative Electroretinograms	http://purl.obolibrary.org/obo/MONDO_0008135		UMLS:C1833799|http://identifiers.org/omim/165510|MESH:C563494
MONDO:0021111	ureter neoplasm	biolink:Disease	mondo	ICD9:239.5|SCTID:126882009|NCIT:C3427|EFO:0003844		neoplasms of ureter|ureter neoplasm|neoplasms of the ureter|tumor of ureter|neoplasm of the ureter|ureter neoplasm (disease)|ureteral tumor|ureteral neoplasm|neoplasm of ureter|ureter tumor|tumor of the ureter	http://purl.obolibrary.org/obo/MONDO_0021111	A benign or malignant neoplasm that affects the ureter.	SNOMEDCT:126882009|NCIT:C3427
MONDO:0060752	neurodevelopmental disorder with spasticity and poor growth	biolink:Disease	mondo	OMIM:618076		neurodevelopmental disorder with spasticity and poor growth; NEDSG|NEDSG	http://purl.obolibrary.org/obo/MONDO_0060752		http://identifiers.org/omim/618076
MONDO:0021110	sweat gland adenoma	biolink:Disease	mondo	NCIT:C7560|ICDO:8400/0		adenoma of the sweat gland|adenoma of sweat gland|sweat gland adenoma|adenoma, sweat gland, benign	http://purl.obolibrary.org/obo/MONDO_0021110	A benign epithelial neoplasm arising from the sweat glands. Representative examples include tubular apocrine adenoma, syringofibroadenoma, and hidradenoma.	NCIT:C7560
MONDO:0008132	optic atrophy with demyelinating disease of CNS	biolink:Disease	mondo	OMIM:165200|UMLS:C1833830|MESH:C563496|DOID:0111756		optic atrophy with demyelinating disease of CNS	http://purl.obolibrary.org/obo/MONDO_0008132		UMLS:C1833830|http://identifiers.org/omim/165200|DOID:0111756|MESH:C563496
MONDO:0008133	optic atrophy 3	biolink:Disease	mondo	OMIM:165300|ICD10:H47.2|GARD:0010203|MESH:C537128|Orphanet:67036|SCTID:719517009|UMLS:C1833809|DOID:0111433	gard_rare|ordo_disease	optic atrophy, cataract, and neurologic disorder|optic atrophy 3|optic atrophy 3, autosomal dominant|optic atrophy 3, autosomal dominant; OPA3|autosomal dominant optic atrophy type 3|optic atrophy and cataract, autosomal dominant|OPA3|OPA3, autosomal dominant|optic atrophy 3 with cataract	http://purl.obolibrary.org/obo/MONDO_0008133		MESH:C537128|UMLS:C1833809|SNOMEDCT:719517009|http://identifiers.org/omim/165300|ORPHA:67036|DOID:0111433
MONDO:0011793	CELIAC5	biolink:Disease	mondo	OMIM:607202	predisposition	GSES|celiac disease, susceptibility to, 5; CELIAC5|celiac disease, susceptibility to, 5|CELIAC5|gluten-sensitive enteropathy, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0011793		http://identifiers.org/omim/607202
MONDO:0008130	ophthalmoplegia-intellectual disability-lingua scrotalis syndrome	biolink:Disease	mondo	OMIM:165150|MESH:C563498|UMLS:C1833835|Orphanet:2743|GARD:0003236	gard_rare|ordo_malformation_syndrome	ophthalmoplegia-intellectual disability-lingua scrotalis syndrome|ophthalmoplegia, progressive, with scrotal tongue and mental deficiency|Levic-Stefanovic-Nikolic syndrome|Levic Stefanovic Nikolic syndrome	http://purl.obolibrary.org/obo/MONDO_0008130		UMLS:C1833835|ORPHA:2743|http://identifiers.org/omim/165150|MESH:C563498
MONDO:0060760	intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	biolink:Disease	mondo	OMIM:618089		IDDFBA|INTELLECTUAL developmental disorder with DYSMORPHIC facies and behavioral abnormalities; IDDFBA	http://purl.obolibrary.org/obo/MONDO_0060760		http://identifiers.org/omim/618089
MONDO:0011792	thyroid dyshormonogenesis 6	biolink:Disease	mondo	UMLS:C1846632|MESH:C564608|OMIM:607200		thyroid dyshormonogenesis 6; TDH6|TDH6|thyroid dyshormonogenesis 6|DUOX2 familial thyroid dyshormonogenesis|thyroid hormonogenesis, genetic defect in, 6|familial thyroid dyshormonogenesis caused by mutation in DUOX2|thyroid dyshormonogenesis type 6|hypothyroidism, congenital, due to dyshormonogenesis, 6	http://purl.obolibrary.org/obo/MONDO_0011792	Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOX2 gene.	MESH:C564608|UMLS:C1846632|http://identifiers.org/omim/607200
MONDO:0008131	optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant	biolink:Disease	mondo	OMIM:165199|UMLS:C1833831|MESH:C563497		optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008131		UMLS:C1833831|http://identifiers.org/omim/165199|MESH:C563497
MONDO:0011795	anonychia-microcephaly syndrome	biolink:Disease	mondo	OMIM:607214|SCTID:720494009|GARD:0000709|Orphanet:1094|ICD10:Q87.8	gard_rare|ordo_malformation_syndrome	total anonychia congenita and microcephaly|anonychia, total, with microcephaly|Teebi-Kaurah syndrome|anonychia total with microcephaly|total anonychia with microcephaly	http://purl.obolibrary.org/obo/MONDO_0011795	Anonychia-microcephaly syndrome is a multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth.	SNOMEDCT:720494009|MESH:C536948|UMLS:C2931373|ORPHA:1094|http://identifiers.org/omim/607214
MONDO:0011794	obsolete Dravet syndrome	biolink:Disease	mondo	Orphanet:33069|ICD10:G40.4	ordo_disease	epileptic encephalopathy, early infantile, 6; EIEE6|epileptic encephalopathy, early infantile, type 6|severe myoclonus epilepsy of infancy|EIEE6|DS|SMEI|severe myoclonic epilepsy in infancy|epileptic encephalopathy, early infantile, 6|severe myoclonic epilepsy of infancy	http://purl.obolibrary.org/obo/MONDO_0011794	Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment.	ORPHA:33069
MONDO:0011797	infantile-onset ascending hereditary spastic paralysis	biolink:Disease	mondo	UMLS:C2931441|MESH:C537217|OMIM:607225|ICD9:343.8|SCTID:703543005|ICD10:G12.2|GARD:0004914|Orphanet:293168	ordo_disease|gard_rare	spastic paralysis, infantile-onset ascending; IAHSP|spastic paralysis, infantile-onset ascending|spastic paralysis, infantile onset ascending|IAHSP	http://purl.obolibrary.org/obo/MONDO_0011797	Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria.	http://identifiers.org/omim/607225|ORPHA:293168|UMLS:C2931441|SNOMEDCT:703543005|MESH:C537217
MONDO:0021109	inverted urothelial papilloma	biolink:Disease	mondo	NCIT:C6192|UMLS:C1334282|ONCOTREE:IUP		inverted urothelial papilloma|urothelium inverted papilloma|IUP|urinary tract inverted papilloma|inverted papilloma of urinary tract	http://purl.obolibrary.org/obo/MONDO_0021109	An endophytic lesion in the urinary tract which shares several morphologic features with urothelial papilloma. This lesion may recur after complete excision. Transitional cell carcinomas may arise within inverted urothelial papillomas.	UMLS:C1334282|NCIT:C6192
MONDO:0021108	meningitis (disease)	biolink:Disease	mondo	SCTID:7180009|ICD9:322.9|NCIT:C26828|COHD:435785		inflammation of meninx|meningitis|meninx inflammation	http://purl.obolibrary.org/obo/MONDO_0021108	A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord.	SNOMEDCT:7180009|NCIT:C26828
MONDO:0011796	PEPS	biolink:Disease	mondo	UMLS:C1846609|MESH:C564605|OMIM:607221		Epps|epilepsy, partial, with pericentral spikes; PEPS|PEPS|epilepsy, partial, with pericentral spikes	http://purl.obolibrary.org/obo/MONDO_0011796		MESH:C564605|UMLS:C1846609|http://identifiers.org/omim/607221
MONDO:0011799	autosomal recessive nonsyndromic deafness 33	biolink:Disease	mondo	ICD10:H90.3|OMIM:607239|MESH:C564602|UMLS:C1846576|DOID:0110492		DFNB33|autosomal recessive deafness 33|autosomal recessive nonsyndromic deafness type 33|deafness, autosomal recessive 33; DFNB33|deafness, autosomal recessive 33	http://purl.obolibrary.org/obo/MONDO_0011799	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 10p11.23-q21.1.	http://identifiers.org/omim/607239|DOID:0110492|MESH:C564602|UMLS:C1846576
MONDO:0021107	narcolepsy	biolink:Disease	mondo	MESH:D009290|SCTID:60380001|ICD9:347.00|DOID:8986|NCIT:C84489|UMLS:C0027404|OMIMPS:161400		narcolepsy, without cataplexy|narcolepsy|paroxysmal sleep	http://purl.obolibrary.org/obo/MONDO_0021107	A sleep disorder characterized by a tendency for excessive sleepiness during the day which occurs even after adequate sleep in the nighttime. The persons who suffer from this condition experience fatigue and may fall asleep at inappropriate times during the day.	UMLS:C0027404|DOID:8986|MESH:D009290|SNOMEDCT:60380001|NCIT:C84489
MONDO:0011798	hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration	biolink:Disease	mondo	Orphanet:157855|OMIM:607236|MESH:C564603|UMLS:C1846582		harp syndrome|hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration	http://purl.obolibrary.org/obo/MONDO_0011798		http://identifiers.org/omim/607236|MESH:C564603|ORPHA:157855|UMLS:C1846582
MONDO:0021106	laminopathy	biolink:Disease	mondo	Orphanet:98301|UMLS:CN236383	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0021106	A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina.	ORPHA:98301|UMLS:CN236383
MONDO:0011791	obsolete deafness, autosomal recessive	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0011791		
MONDO:0011790	Amish lethal microcephaly	biolink:Disease	mondo	MESH:C538247|UMLS:C1846648|ICD10:Q02|OMIM:607196|Orphanet:99742|GARD:0008606|SCTID:702437000	ordo_malformation_syndrome|gard_rare	MCPHA|microcephaly, Amish type; MCPHA|Amish lethal microcephaly|microcephaly, Amish type|thiamine metabolism dysfunction syndrome 3 (microcephaly type)	http://purl.obolibrary.org/obo/MONDO_0011790	Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year.	SNOMEDCT:702437000|UMLS:C1846648|MESH:C538247|ORPHA:99742|http://identifiers.org/omim/607196
MONDO:0021105	NAFLD1	biolink:Disease	mondo	OMIM:613282	predisposition	fatty liver disease, nonalcoholic, susceptibility to, 1; NAFLD1|fatty liver disease, nonalcoholic, susceptibility to, 1|liver disease, alcoholic, susceptibility to, 1|NAFLD1	http://purl.obolibrary.org/obo/MONDO_0021105		http://identifiers.org/omim/613282
MONDO:0011779	laryngeal atresia, encephalocele, and limb deformities	biolink:Disease	mondo	OMIM:607132|MESH:C564620|UMLS:C1846721		Lel|laryngeal atresia, encephalocele, and limb deformities	http://purl.obolibrary.org/obo/MONDO_0011779		UMLS:C1846721|http://identifiers.org/omim/607132|MESH:C564620
MONDO:0008149	osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures	biolink:Disease	mondo	ICD10:Q78.0|MESH:C563487|OMIM:166230|UMLS:C1833748|DOID:0110335		osteogenesis imperfecta with opalescent teeth, blue sclerae and WORMIAN bones, but without fractures	http://purl.obolibrary.org/obo/MONDO_0008149	An osteogenesis imperfecta found in a single South African family.	UMLS:C1833748|http://identifiers.org/omim/166230|DOID:0110335|MESH:C563487
MONDO:0011778	multiple epiphyseal dysplasia, Al-Gazali type	biolink:Disease	mondo	Orphanet:166024|MESH:C564621|SCTID:719688002|ICD10:Q77.3|OMIM:607131	ordo_disease	multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|AGBK|AL-Gazali-BAKALINOVA syndrome; AGBK|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|Mmedf|Al-Gazali-Bakalinova syndrome	http://purl.obolibrary.org/obo/MONDO_0011778	Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism.	http://identifiers.org/omim/607131|MESH:C564621|SNOMEDCT:719688002|ORPHA:166024
MONDO:0060745	intellectual developmental disorder with or without epilepsy or cerebellar ataxia	biolink:Disease	mondo	UMLS:CN252646|OMIM:618060		IDDECA|intellectual developmental disorder with or without epilepsy or cerebellar ataxia; IDDECA	http://purl.obolibrary.org/obo/MONDO_0060745		http://identifiers.org/omim/618060|UMLS:CN252646
MONDO:0021104	alcoholic fatty liver disease	biolink:Disease	mondo	COHD:193256|UMLS:C0015696|MESH:D005235|SCTID:50325005|UMLS:C2718067|ICD9:571.0		alcoholic fatty liver|alcoholic Steatohepatitis	http://purl.obolibrary.org/obo/MONDO_0021104	Lipid infiltration of the hepatic parenchymal cells that is due to alcohol abuse. The fatty changes in the alcoholic fatty liver may be reversible, depending on the amounts of triglycerides accumulated.	UMLS:C0015696|UMLS:C2718067|MESH:D005235|SNOMEDCT:50325005
MONDO:0021103	obsolete collagen diseases	biolink:Disease	mondo	UMLS:C0009326|ICD9:710.9|SCTID:81573002|DOID:854|ICD9:710.8|MESH:D003095		collagen disorder|disease, collagen|collagen disease|diseases, collagen	http://purl.obolibrary.org/obo/MONDO_0021103	Historically, a heterogeneous group of acute and chronic diseases, including rheumatoid arthritis, systemic lupus erythematosus, progressive systemic sclerosis, dermatomyositis, etc. This classification was based on the notion that 'collagen' was equivalent to 'connective tissue', but with the present recognition of the different types of collagen and the aggregates derived from them as distinct entities, the term 'collagen diseases' now pertains exclusively to those inherited conditions in which the primary defect is at the gene level and affects collagen biosynthesis, post-translational modification, or extracellular processing directly. (From Cecil Textbook of Medicine, 19th ed, p1494)	UMLS:C0009326|SNOMEDCT:81573002|DOID:854|MESH:D003095
MONDO:0008147	osteogenesis imperfecta type 2	biolink:Disease	mondo	GARD:0010142|MESH:C536042|DOID:0110341|UMLS:CN536250|NCIT:C99001|OMIM:166210|ICD10:Q78.0|Orphanet:216804|SCTID:86470003	ordo_clinical_subtype	osteogenesis imperfecta congenita|osteogenesis imperfecta type II|Vrolik type of osteogenesis imperfecta|osteogenesis imperfecta, type II; OI2|perinatal lethal osteogenesis imperfecta congenita|osteogenesis imperfecta, type 2|OI, type 2|OI2|osteogenesis imperfecta, type II|lethal osteogenesis imperfecta|OI type 2|osteogenesis imperfecta congenita, perinatal lethal form|Perinatally lethal OI|osteogenesis imperfecta congenita perinatal lethal form	http://purl.obolibrary.org/obo/MONDO_0008147	Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.	ORPHA:216804|http://identifiers.org/omim/166210|MESH:C536042|NCIT:C99001|DOID:0110341|UMLS:CN536250|SNOMEDCT:86470003
MONDO:0008148	osteogenesis imperfecta type 4	biolink:Disease	mondo	SCTID:205497004|NCIT:C98576|DOID:0110340|Orphanet:216820|ICD10:Q78.0|GARD:0008696|OMIM:166220|MESH:C536045|UMLS:C0268363	ordo_clinical_subtype	common variable OI with normal sclerae|osteogenesis imperfecta, type IV; OI4|osteogenesis imperfecta with normal sclera|osteogenesis imperfecta type IV|OI type 4|osteogenesis imperfecta, type 4|OI, type 4|osteogenesis imperfecta with normal sclerae|OI type IV|OI4|osteogenesis imperfecta, type IV	http://purl.obolibrary.org/obo/MONDO_0008148	Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI).	SNOMEDCT:205497004|UMLS:C0268363|ORPHA:216820|http://identifiers.org/omim/166220|MESH:C536045|DOID:0110340|NCIT:C98576
MONDO:0021102	prostate phyllodes tumor	biolink:Disease	mondo	Orphanet:498228|NCIT:C7574|GARD:0009404|UMLS:C1335409	ordo_disease	cystosarcoma phyllodes of the prostate|malignant phyllodes tumor of prostate (subtype)|phyllodes tumor of prostate|phyllodes neoplasm of prostate|phyllodes neoplasm of the prostate|prostate phyllodes neoplasm|prostate gland phyllodes tumor|phyllodes tumor of the prostate|cystosarcoma phyllodes of prostate|prostate cystosarcoma phyllodes|prostate phyllodes tumor	http://purl.obolibrary.org/obo/MONDO_0021102	An unusual, biphasic benign or malignant neoplasm that arises from the prostate gland. It is characterized by the presence of an epithelial glandular component and a proliferating stroma.	NCIT:C7574|ORPHA:498228|UMLS:C1335409
MONDO:0008145	Ollier disease	biolink:Disease	mondo	UMLS:C0014084|UMLS:CN203308|GARD:0007251|MedDRA:10014642|DOID:4624|UMLS:C0206641|Orphanet:296|ICD10:Q78.4|OMIM:166000|SCTID:268274005|NCIT:C3008	ordo_disease|gard_rare	enchondromatosis, multiple, Ollier type|enchondromatosis with haemangiomata|osteochondromatosis|Ollier's disease|multiple cartilaginous enchondroses|dyschondroplasia|enchondromatosis|multiple enchondromatosis|Ollier disease|enchondromatosis, multiple|Kast's syndrome	http://purl.obolibrary.org/obo/MONDO_0008145	Enchondromatosis is a rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones.	MESH:D004687|UMLS:CN203308|UMLS:C0014084|http://identifiers.org/omim/166000|ORPHA:296|DOID:4624|UMLS:C0206641|SNOMEDCT:268274005|MEDDRA:10014642|NCIT:C3008
MONDO:0021101	appendix L-cell glucagon-like peptide-producing neuroendocrine tumor	biolink:Disease	mondo	DOID:8151|UMLS:C3274138|NCIT:C27445		appendiceal L-cell glucagon-like peptide-producing neuroendocrine tumor|L-cell glucagon-like peptide-producing neuroendocrine tumor of vermiform appendix|malignant appendiceal glucagonoma|appendix L-cell NET|appendix L-cell glucagon-like peptide-producing NET|malignant appendiceal L-cell glucagon-like peptide producing tumor|appendiceal L-cell glucagon-like peptide-producing NET|vermiform appendix L-cell glucagon-like peptide-producing neuroendocrine tumor|appendiceal L-cell glucagon-like peptide producing tumor|appendix L-cell glucagon-like peptide-producing neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0021101	A neuroendocrine tumor arising from the wall of the appendix, producing glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns.	NCIT:C27445|DOID:8151|UMLS:C3274138
MONDO:0008146	osteogenesis imperfecta type 1	biolink:Disease	mondo	Orphanet:216796|SCTID:385482004|OMIM:166200|NCIT:C99003|UMLS:CN201103|GARD:0008694|ICD10:Q78.0|UMLS:CN536249|DOID:0110334	ordo_clinical_subtype	osteogenesis imperfecta, type I|osteogenesis imperfecta, type I; OI1|OI type 1|Van der Hoeve syndrome|OI1|osteogenesis imperfecta tarda|osteogenesis imperfecta with blue sclerae|mild osteogenesis imperfecta|classic non-deforming OI with blue sclerae|OI, type 1|osteogenesis imperfecta, type 1|Adair-Dighton syndrome|osteogenesis imperfecta type I|non-deforming osteogenesis imperfecta	http://purl.obolibrary.org/obo/MONDO_0008146	Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures.	ORPHA:216796|SNOMEDCT:385482004|UMLS:CN201103|http://identifiers.org/omim/166200|NCIT:C99003|DOID:0110334|UMLS:CN536249
MONDO:0021100	breast neoplasm	biolink:Disease	mondo	ICD9:239.3|COHD:81251|SCTID:126926005|NCIT:C2910|MESH:D001943|ONCOTREE:BREAST|UMLS:CN236627|EFO:0003869		breast neoplasm (disease)|tumor of breast|neoplasm of the breast|breast neoplasm|neoplasm, breast|neoplasm of breast|breast tumor|tumor of the breast	http://purl.obolibrary.org/obo/MONDO_0021100	A benign or malignant neoplasm of the breast parenchyma. It can originate from the ducts, lobules or the breast adipose tissue. Breast neoplasms are much more common in females than males.	NCIT:C2910|MESH:D001943|UMLS:CN236627|SNOMEDCT:126926005
MONDO:0008143	osteoarthritis susceptibility 1	biolink:Disease	mondo	UMLS:C0029408|ICD9:715.90|SCTID:396275006|ICD9:715.98|OMIM:165720	predisposition	osteoarthritis caused by mutation in FRZB|osteoarthritis susceptibility 1; OS1|osteoarthritis susceptibility 1|Oa|osteoarthrosis|FRZB osteoarthritis|osteoarthritis susceptibility type 1|OS1|osteoarthritis of hip, female-specific, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0008143	Any osteoarthritis in which the cause of the disease is a mutation in the FRZB gene.	http://identifiers.org/omim/165720|UMLS:C0029408|SNOMEDCT:396275006
MONDO:0008144	obsolete osteochondritis dissecans	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0008144		
MONDO:0011782	angioid streaks	biolink:Disease	mondo	OMIM:607140|EFO:1000805|MESH:D000793|MedDRA:10066191|DOID:13401|UMLS:C0002982		angioid streaks	http://purl.obolibrary.org/obo/MONDO_0011782	Small breaks in the elastin-filled tissue of the retina.	MESH:D000793|DOID:13401|http://identifiers.org/omim/607140|UMLS:C0002982
MONDO:0008141	ossicular malformations, familial	biolink:Disease	mondo	GARD:0008184|OMIM:165680|UMLS:C1833790|MESH:C537142	gard_rare	familial middle ear ossicular anomalies|familial ossicular malformations|ossicular malformations, familial	http://purl.obolibrary.org/obo/MONDO_0008141		UMLS:C1833790|MESH:C537142|http://identifiers.org/omim/165680
HGNC:12765	FOXN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12765		
MONDO:0008142	Thiemann disease, familial form	biolink:Disease	mondo	SCTID:55166000|ICD9:716.84|GARD:0004131|Orphanet:3314|OMIM:165700|ICD10:M93.2|UMLS:C0264081|MESH:C537144	ordo_disease	osteoarthropathy of fingers familial|Thiemann epiphyseal disease|Osteochondrosis of phalangeal epiphyses|aseptic necrosis of phalangeal epiphyses|THIEMANN disease|osteochondritis of phalangeal epiphyses|Thiemann's disease|osteoarthropathy of fingers, familial	http://purl.obolibrary.org/obo/MONDO_0008142	Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course.	ORPHA:3314|MESH:C537144|UMLS:C0264081|http://identifiers.org/omim/165700|SNOMEDCT:55166000
MONDO:0011781	spinocerebellar ataxia type 17	biolink:Disease	mondo	ICD10:G11.8|GARD:0010469|SCTID:719249005|UMLS:C1846707|MESH:C564616|DOID:0050967|Orphanet:98759|OMIM:607136	ordo_disease	SCA17|spinocerebellar ataxia type 17|SCA 17|HDL4|Huntington disease-like 4|spinocerebellar ataxia 17; SCA17|spinocerebellar ataxia 17|Huntington disease-like 4	http://purl.obolibrary.org/obo/MONDO_0011781	Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.	ORPHA:98759|DOID:0050967|MESH:C564616|SNOMEDCT:719249005|UMLS:C1846707|http://identifiers.org/omim/607136
MONDO:0011784	Moyamoya disease 2	biolink:Disease	mondo	OMIM:607151|MESH:C536992|UMLS:C1846689		Moyamoya disease caused by mutation in RNF213|Moyamoya disease type 2|Moyamoya disease 2; MYMY2|Moyamoya disease 2|MYMY2|RNF213 Moyamoya disease	http://purl.obolibrary.org/obo/MONDO_0011784	Any Moyamoya disease in which the cause of the disease is a mutation in the RNF213 gene.	http://identifiers.org/omim/607151|MESH:C536992|UMLS:C1846689
HGNC:12762	WFS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12762		
MONDO:0011783	ALG12-CDG	biolink:Disease	mondo	MESH:C535745|Orphanet:79324|UMLS:C2931001|SCTID:711155008|OMIM:607143|DOID:0080559|ICD10:E77.8|GARD:0009833|ICD9:271.8|NCIT:C126873	ordo_disease	CDG syndrome type Ig|congenital disorder of glycosylation type Ig|CDG1G|CDGIg|CDG 1G|CDG Ig|congenital disorder of glycosylation type 1g|CDG-Ig|carbohydrate deficient glycoprotein syndrome type Ig|mannosyltransferase 8 deficiency|ALG12-congenital disorder of glycosylation|congenital disorder of glycosylation, type Ig; CDG1G|congenital disorder of glycosylation, type Ig|ALG12-CDG (CDG-Ig)	http://purl.obolibrary.org/obo/MONDO_0011783	(22q13.33).	DOID:0080559|ORPHA:79324|MESH:C535745|UMLS:C2931001|SNOMEDCT:711155008|NCIT:C126873|http://identifiers.org/omim/607143
MONDO:0008140	ossified ear cartilages	biolink:Disease	mondo	MESH:C563488|OMIM:165670|UMLS:C1833791		ossified ear cartilages	http://purl.obolibrary.org/obo/MONDO_0008140		UMLS:C1833791|http://identifiers.org/omim/165670|MESH:C563488
MONDO:0011786	allergic rhinitis	biolink:Disease	mondo	EFO:0005854|COHD:257007|UMLS:C2607914|ICD9:477.8|DOID:4481|SCTID:61582004|NCIT:C79532|ICD9:477|HP:0003193|OMIM:607154|ICD9:477.9		hay fever|allergic form of rhinitis|atopic rhinitis|allergic rhinitis|pollenosis|seasonal allergic rhinitis|non-seasonal allergic rhinitis|Perenial allergic rhinitis|perennial allergic rhinitis|Alrh	http://purl.obolibrary.org/obo/MONDO_0011786	Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life.	SNOMEDCT:61582004|http://identifiers.org/omim/607154|DOID:4481|NCIT:C79532|UMLS:C2607914
MONDO:0011785	hereditary spastic paraplegia 19	biolink:Disease	mondo	UMLS:C1846685|ICD10:G11.4|DOID:0110772|MESH:C536856|SCTID:763375003|Orphanet:100999|GARD:0009588|OMIM:607152	ordo_disease	spastic paraplegia 19|hereditary spastic paraplegia type 19|spastic paraplegia 19, autosomal dominant; SPG19|autosomal dominant spastic paraplegia 19|autosomal dominant spastic paraplegia type 19|spastic paraplegia 19, autosomal dominant|SPG19	http://purl.obolibrary.org/obo/MONDO_0011785	Autosomal dominant spastic paraplegia type 19 is a pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy.	http://identifiers.org/omim/607152|MESH:C536856|SNOMEDCT:763375003|DOID:0110772|ORPHA:100999|UMLS:C1846685
HP:0002921	Abnormality of the cerebrospinal fluid	biolink:PhenotypicFeature	mondo	UMLS:C0151583		Abnormal CSF findings|Abnormality of the CSF	http://purl.obolibrary.org/obo/HP_0002921	An abnormality of the cerebrospinal fluid (CSF).	
MONDO:0011788	cloverleaf skull-multiple congenital anomalies syndrome	biolink:Disease	mondo	MESH:C564611|SCTID:717771007|ICD10:Q87.8|Orphanet:93267|UMLS:C1846671|OMIM:607161	ordo_malformation_syndrome	multiple congenital anomalies syndrome with cloverleaf skull	http://purl.obolibrary.org/obo/MONDO_0011788	This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.	http://identifiers.org/omim/607161|SNOMEDCT:717771007|MESH:C564611|ORPHA:93267|UMLS:C1846671
MONDO:0011787	autosomal recessive limb-girdle muscular dystrophy type 2I	biolink:Disease	mondo	ICD10:G71.0|GARD:0012533|NCIT:C126739|Orphanet:34515|DOID:0110299|SCTID:718180000|OMIM:607155|MESH:C564612	ordo_disease	MDDGC5|muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5|FKRP autosomal recessive limb-girdle muscular dystrophy|limb-girdle muscular dystrophy due to FKRP deficiency|limb-girdle muscular dystrophy type 2I|muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5|muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related|LGMD2I|muscular dystrophy limb-girdle type 2I|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5; MDDGC5|muscular dystrophy-dystroglycanopathy, limb-girdle, Frkp-related|autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP|muscular dystrophy, limb-girdle, type 2I	http://purl.obolibrary.org/obo/MONDO_0011787	Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported.	http://identifiers.org/omim/607155|DOID:0110299|MESH:C564612|SNOMEDCT:718180000|NCIT:C126739|ORPHA:34515
HGNC:12766	NSD2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12766		
MONDO:0023757	meralgia paresthetica	biolink:Disease	mondo	UMLS:C0152110|SCTID:85007004|MESH:C537458|GARD:0009417|ICD9:355.1	gard_rare	lateral femoral cutaneous nerve entrapment|lateral cutaneous femoral nerve of thigh syndrome|compression of lateral cutaneous femoral nerve of thigh|meralgia paraesthetica familial (type)|Bernhardt-Roth syndrome|entrapment of lateral cutaneous nerve of thigh|bernhardt's paresthesia|bernhardt-rot syndrome	http://purl.obolibrary.org/obo/MONDO_0023757	Meralgia paresthetica is a condition characterized by tingling, numbness and burning pain in the outer thigh. These symptoms may become worse after walking or standing. The condition generally only affects one side of the body, although both sides may be involved in up to 20% of cases. Meralgia paresthetica is caused by compression of the lateral femoral cutaneous nerve (a sensory nerve to the skin on the outer thigh). This may be associated with a variety of causes such as tight clothing, obesity, and/or pregnancy. Treatment is based on the signs and symptoms present in each person and may include medications to manage pain. In most cases, conservative treatment by wearing looser clothing and/or losing weight generally resolves symptoms.	SNOMEDCT:85007004|MESH:C537458|UMLS:C0152110
MONDO:0011780	specific language impairment 3	biolink:Disease	mondo	UMLS:C1846719|OMIM:607134		specific language impairment quantitative trait locus on chromosome 13|specific language impairment 3|SLI3|specific language impairment 3; SLI3	http://purl.obolibrary.org/obo/MONDO_0011780		UMLS:C1846719|http://identifiers.org/omim/607134
MONDO:0021172	Timothy syndrome type 2 (disorder)	biolink:Disease	mondo	UMLS:C4304347|SCTID:719907006		Timothy syndrome, atypical type	http://purl.obolibrary.org/obo/MONDO_0021172	Atypical form of Timothy syndrome, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death.	UMLS:C4304347|SNOMEDCT:719907006
MONDO:0021171	Timothy syndrome type 1 (disorder)	biolink:Disease	mondo	ICD9:759.89|SCTID:699256006		Timothy syndrome, classic type	http://purl.obolibrary.org/obo/MONDO_0021171	Classic form of Timothy syndrome, includes all features of generic.	SNOMEDCT:699256006
MONDO:0021170	obsolete amyotonia congenita	biolink:Disease	mondo	GARD:0005798	gard_rare	Oppenheim disease|amyotonia congenita|Oppenheim's disease	http://purl.obolibrary.org/obo/MONDO_0021170		
HP:0000316	Hypertelorism	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:22006008|UMLS:C0020534|SNOMEDCT_US:194021007|MSH:D006972	hposlim_core	Increased interpupillary distance|Excessive orbital separation|Increased distance between eye sockets|Wide-set eyes|Widened interpupillary distance|Increased distance between eyes|Ocular hypertelorism|Widely spaced eyes	http://purl.obolibrary.org/obo/HP_0000316	Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).	
HP:0002979	Bowing of the legs	biolink:PhenotypicFeature	mondo	MSH:D056305|SNOMEDCT_US:299331007|UMLS:C0544755		Bowed legs|Bowed lower limbs|Bow-leggedness|Bow legs	http://purl.obolibrary.org/obo/HP_0002979	A bending or abnormal curvature affecting a long bone of the leg.	
HP:0000315	Abnormality of the orbital region	biolink:PhenotypicFeature	mondo	UMLS:C4025863		Abnormality of the eye region|Malformation of the orbital region of the face|Deformity of the orbital region of the face|Anomaly of the orbital region of the face|Abnormality of the region around the eyes	http://purl.obolibrary.org/obo/HP_0000315		
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	biolink:PhenotypicFeature	mondo	UMLS:C4025665		Absent/underdeveloped central nervous system tissue|Aplasia/Hypoplasia involving the CNS	http://purl.obolibrary.org/obo/HP_0002977	Absence or underdevelopment of tissue in the central nervous system.	
MONDO:0021179	proteostasis deficiencies	biolink:Disease	mondo	UMLS:C2718001|MESH:D057165		disease, Protein Misfolding|proteopathic disease|Protein folding disorders|deficiency, Proteostasis|Proteostasis deficiency|disease, Protein folding|deficiencies, Proteostasis|Protein folding diseases|Protein Misfolding disease|proteinopathy|dysfunction, Proteostasis|Misfolding disorders, Protein|folding disease, Protein|diseases, Protein Misfolding|Misfolding diseases, Protein|Protein Misfolding diseases|Protein folding disease|disorder, Protein folding|folding disorder, Protein|Proteostasis dysfunction|disorders, Protein Misfolding|proteopathy|disorders, Protein folding|Protein folding disorder|folding disorders, Protein|disorder, Protein Misfolding|Proteostasis dysfunctions|dysfunctions, Proteostasis|Protein Misfolding disorders|diseases, Protein folding|Misfolding disorder, Protein|Protein Misfolding disorder|folding diseases, Protein|Misfolding disease, Protein	http://purl.obolibrary.org/obo/MONDO_0021179	Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins.	MESH:D057165|UMLS:C2718001
HGNC:12726	VWF	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12726		
MONDO:0021178	injury	biolink:Disease	mondo	NCIT:C3671|ICD10:S00.T98|EFO:0000546|COHD:440921|MESH:D014947	other_hierarchy	injury|trauma|wound|traumatic injury	http://purl.obolibrary.org/obo/MONDO_0021178	Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity.	NCIT:C3671|MESH:D014947
MONDO:0021177	autoimmune hepatitis type 3	biolink:Disease	mondo	SCTID:721713007|UMLS:C4303162		autoimmune hepatitis type 3	http://purl.obolibrary.org/obo/MONDO_0021177	Autoimmune hepatitis characterized by the presence of antibodies to soluble liver or liver-pancreas antigens.	SNOMEDCT:721713007|UMLS:C4303162
MONDO:0008198	parietal foramina with cleidocranial dysplasia	biolink:Disease	mondo	ICD10:Q74.0|MESH:C566825|OMIM:168550|Orphanet:251290|UMLS:C1868597	ordo_malformation_syndrome	cleidocranial dysplasia with parietal foramina|parietal foramina with cleidocranial dysplasia; PFMCCD|parietal foramina with cleidocranial dysplasia|parietal foramina with clavicular hypoplasia|PFMCCD|parietal foramina with cleidocranial dysostosis	http://purl.obolibrary.org/obo/MONDO_0008198	Parietal foramina with clavicular hypoplasia is a rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported.	UMLS:C1868597|MESH:C566825|ORPHA:251290|http://identifiers.org/omim/168550
MONDO:0021176	autoimmune hepatitis type 2	biolink:Disease	mondo	SCTID:721712002|UMLS:C4303163|Orphanet:563581		type 2 AIH|autoimmune hepatitis type 2	http://purl.obolibrary.org/obo/MONDO_0021176	Autoimmune hepatitis characterized by the presence of anti-liver kidney microsomal antibody type 1 (anti-LKM1) and/or anti-liver cytosol type 1 (anti-LC1) autoantibodies.	ORPHA:563581|UMLS:C4303163|SNOMEDCT:721712002
MONDO:0021175	herpetic vulvovaginitis	biolink:Disease	mondo	ICD9:054.11|NCIT:C34697|SCTID:27420004|UMLS:C0019386		Herpetic vulvovaginitis|herpetic vulvovaginitis|Herpetic Vulvovaginitis	http://purl.obolibrary.org/obo/MONDO_0021175	Infection of the vulva and the vagina caused by herpes simplex virus.	NCIT:C34697|SNOMEDCT:27420004|UMLS:C0019386
MONDO:0008199	late-onset Parkinson disease	biolink:Disease	mondo	UMLS:C3160718|OMIM:168600		park|Parkinson disease, late-onset|Parkinson disease, late-onset; PD|PD	http://purl.obolibrary.org/obo/MONDO_0008199		UMLS:C3160718|http://identifiers.org/omim/168600
MONDO:0008196	parastremmatic dwarfism	biolink:Disease	mondo	SCTID:722210007|Orphanet:2646|GARD:0004222|MESH:C537172|OMIM:168400|ICD10:Q87.1|DOID:0111539	ordo_malformation_syndrome|gard_rare	parastremmatic dwarfism|Parastremmatic dysplasia	http://purl.obolibrary.org/obo/MONDO_0008196	Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.	DOID:0111539|SNOMEDCT:722210007|http://identifiers.org/omim/168400|MESH:C537172|ORPHA:2646|UMLS:C1868616
MONDO:0008197	parietal foramina 1	biolink:Disease	mondo	OMIM:168500		parietal foramina 1|foramina parietalia permagna|PFM1|parietal foramina 1; PFM1|cranium bifidum, hereditary|catlin Marks|parietal foramina caused by mutation in MSX2|PFM|parietal foramina|cranium bifidum occultum|MSX2 parietal foramina|parietal foramina, symmetric|parietal foramina; PFM	http://purl.obolibrary.org/obo/MONDO_0008197	Any parietal foramina in which the cause of the disease is a mutation in the MSX2 gene.	http://identifiers.org/omim/168500
HGNC:12731	WAS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12731		
MONDO:0008194	Paramolar tubercle of bolk	biolink:Disease	mondo	SCTID:78305006|OMIM:168200		bolk cusp|Paramolar tubercle of bolk	http://purl.obolibrary.org/obo/MONDO_0008194		http://identifiers.org/omim/168200|SNOMEDCT:78305006
HP:0002970	Genu varum	biolink:PhenotypicFeature	mondo	MSH:D056305|SNOMEDCT_US:299331007|UMLS:C0544755	hposlim_core	Genu vara|Outward bowing at knees|Genua vara|Outward bow-leggedness	http://purl.obolibrary.org/obo/HP_0002970	A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.	
MONDO:0008195	paramyotonia congenita of Von Eulenburg	biolink:Disease	mondo	ICD10:G71.1|SCTID:41574007|GARD:0007325|OMIM:168300|ICD9:359.29|NCIT:C122790|Orphanet:684|DOID:0111538	ordo_disease	paramyotonia congenita of VON Eulenburg; PMC|paramyotonia congenita of Von Eulenburg|Von Eulenburg paramyotonia congenita|Eulenburg disease|paramyotonia congenita|paralysis periodica Paramyotonica|paramyotonia congenita without cold paralysis|PMC|myotonia congenita intermittens	http://purl.obolibrary.org/obo/MONDO_0008195	Paramyotonia congenita of Von Eulenburg is characterised by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3).	http://identifiers.org/omim/168300|SNOMEDCT:41574007|NCIT:C122790|MESH:C538616|UMLS:C1868617|ORPHA:684|DOID:0111538
MONDO:0008192	paragangliomas 1	biolink:Disease	mondo	GARD:0007324|OMIM:168000		glomus jugulare tumors|chemodectomas|SDHD paraganglioma|paragangliomas type 1|paragangliomas, familial nonchromaffin, 1|paragangliomas 1; PGL1|Paragangliomata|paragangliomas 1|paragangliomas with sensorineural hearing loss|paraganglioma caused by mutation in SDHD|paragangliomas, familial, 1|PGL1|glomus tumors, familial, 1|carotid body tumors|paraganglioma, carotid body	http://purl.obolibrary.org/obo/MONDO_0008192	Any paraganglioma in which the cause of the disease is a mutation in the SDHD gene.	http://identifiers.org/omim/168000
HGNC:12736	WIPF1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12736		
MONDO:0008193	paralysis agitans, juvenile, of Hunt	biolink:Disease	mondo	MESH:C562469|ICD9:333.0|GARD:0010359|SCTID:43647007|OMIM:168100	gard_rare	paralysis agitans, juvenile, of Hunt|Parkinson disease, juvenile, of Hunt	http://purl.obolibrary.org/obo/MONDO_0008193		MESH:C562469|http://identifiers.org/omim/168100|SNOMEDCT:43647007
MONDO:0008190	obsolete human papillomavirus type 18 integration site 1	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0008190		
MONDO:0008191	obsolete human papillomavirus type 18 integration site 2	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0008191		
GO:0015171	amino acid transmembrane transporter activity	biolink:OntologyClass	mondo			amino acid/choline transmembrane transporter activity|general amino acid permease activity|hydroxy/aromatic amino acid permease activity|amino acid permease activity|amino acid transporter activity	http://purl.obolibrary.org/obo/GO_0015171	Enables the transfer of amino acids from one side of a membrane to the other. Amino acids are organic molecules that contain an amino group and a carboxyl group.	
MONDO:0021163	kidney neoplasm	biolink:Disease	mondo	ONCOTREE:KIDNEY|SCTID:126880001|ICD9:239.5|NCIT:C3150		renal tumor|neoplasm of kidney|kidney neoplasm (disease)|kidney tumor|tumor of the kidney|renal neoplasm|renal tumors|tumor of kidney|kidney neoplasm|neoplasm of the kidney	http://purl.obolibrary.org/obo/MONDO_0021163	A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma.	NCIT:C3150|SNOMEDCT:126880001
MONDO:0021162	carotenemia	biolink:Disease	mondo	UMLS:C0154271|ICD10:E67.1|ICD9:278.3			http://purl.obolibrary.org/obo/MONDO_0021162		NCIT:C26963|UMLS:C0154271
NCBITaxon:945	Ehrlichia chaffeensis	organism taxon	mondo	PMID:1757557|PMID:11760958|GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_945		
MONDO:0021161	gonococcal prostatitis	biolink:Disease	mondo	SCTID:197967000|UMLS:C0341755		Neisseria gonorrhoeae caused prostatitis (disease)|Neisseria gonorrhoeae prostatitis (disease)	http://purl.obolibrary.org/obo/MONDO_0021161	An prostatitis (disease) caused by infection with Neisseria gonorrhoeae.	SNOMEDCT:197967000|UMLS:C0341755
MONDO:0021160	gonococcal cystitis	biolink:Disease	mondo	SCTID:197848003|UMLS:C0473230		Neisseria gonorrhoeae caused cystitis|Neisseria gonorrhoeae cystitis	http://purl.obolibrary.org/obo/MONDO_0021160	An cystitis caused by infection with Neisseria gonorrhoeae.	SNOMEDCT:197848003|UMLS:C0473230
HGNC:24725	FAM111A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24725		
NCBITaxon:948	Anaplasma phagocytophilum	organism taxon	mondo	PMID:1115421|PMID:11760958|GC_ID:11|PMID:8195363		agent of human granulocytic ehrlichiosis|Cytoecetes phagocytophila|Ehrlichia equi|human granulocytic Ehrlichia|Rickettsia phagocytophila ovis|Rickettsia phagocytophila|Cytoecetes bovis|Ehrlichia sp. 'HGE agent'|Ehrlichia phagocytophila|HGE agent	http://purl.obolibrary.org/obo/NCBITaxon_948		
MONDO:0021169	epithelioid hemangioma	biolink:Disease	mondo	DOID:474|UMLS:C0205788|ICDO:9125/0|NCIT:C4298		epithelioid hemangioma|angiolymphoid hyperplasia with eosinophilia|histiocytoid hemangioma|epithelioid haemangioma	http://purl.obolibrary.org/obo/MONDO_0021169	A hemangioma characterized by the presence of epithelioid endothelial cells.	UMLS:C0205788|NCIT:C4298|DOID:474
MONDO:0021168	hibernoma	biolink:Disease	mondo	SCTID:404064001|NCIT:C3702|UMLS:C0205822|ICDO:8880/0		Brown fat neoplasm|fetal fat cell lipoma|hibernoma|Brown fat tumor|hibernoma, benign	http://purl.obolibrary.org/obo/MONDO_0021168	A rare benign slow growing adipose tissue tumor, characterized by the presence of polygonal brown fat cells with multivacuolated and/or granular cytoplasm. The tumor is usually painless and is most often seen in young adults.	UMLS:C0205822|SNOMEDCT:404064001|NCIT:C3702
MONDO:0021167	myositis	biolink:Disease	mondo	UMLS_CUI:C0027121|ICD9:728.9|ICD10:M60|ICD10:G72.49|DOID:633|MESH:D009220|ICD10:M60.9|EFO:0000783|SCTID:128496001|COHD:73001|NCIT:C27578		muscle tissue inflammation|inflammatory disorder of muscle (disorder)|inflammatory disorder of muscle|inflammation of muscle tissue	http://purl.obolibrary.org/obo/MONDO_0021167	An inflammatory disease involving a pathogenic inflammatory response in the muscle tissue.	NCIT:C27578|MESH:D009220|SNOMEDCT:128496001|DOID:633
NCBITaxon:943	Ehrlichia	organism taxon	mondo	PMID:11414267|PMID:11760958|GC_ID:11		possibly "Donatienella" Rousselot 1948|Kurlovia|Nicollea|Cowdria|Rickettsia (subgen. Ehrlichia)|Ehrlichia (subgen. Cowdria)	http://purl.obolibrary.org/obo/NCBITaxon_943		
NCBITaxon:942	Anaplasmataceae	organism taxon	mondo	PMID:11760958|GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_942		
MONDO:0021166	inflammatory disease	biolink:Disease	mondo	NCIT:C93210|SCTID:128139000|UMLS:C1290884|ICD9:799.89		inflammatory disease|anatomical structure inflammation|inflammatory disorder|inflammation of anatomical structure	http://purl.obolibrary.org/obo/MONDO_0021166	A disease involving a pathogenic inflammatory response in the anatomical structure.	SNOMEDCT:128139000|UMLS:C1290884|NCIT:C93210
MONDO:0021165	Paget disease	biolink:Disease	mondo	NCIT:C7073		Paget's cell neoplasm|Paget disease|Paget's disease|Paget cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0021165	A malignant neoplasm composed of large cells with large nuclei, prominent nucleoli, and abundant pale cytoplasm (Paget cells). Paget cell neoplasms include Paget disease of the nipple and extramammary Paget disease which may affect the vulva, penis, anus, skin and scrotum.	NCIT:C7073
MONDO:0021164	posthitis	biolink:Disease	mondo	UMLS:C0235640|SCTID:44318002		inflammation of prepuce of penis|prepuce of penis inflammation	http://purl.obolibrary.org/obo/MONDO_0021164	An inflammatory disease involving a pathogenic inflammatory response in the prepuce of penis.	SNOMEDCT:44318002|UMLS:C0235640
HP:0002983	Micromelia	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:74370006|UMLS:C0025995|MEDDRA:10027546	hposlim_core	Smaller or shorter than typical limbs	http://purl.obolibrary.org/obo/HP_0002983	The presence of abnormally small extremities.	
HP:0002981	Abnormality of the calf	biolink:PhenotypicFeature	mondo	UMLS:C4021832		Abnormality of the calf	http://purl.obolibrary.org/obo/HP_0002981	An abnormality of the calf, i.e. of the posterior part of the lower leg.	
HGNC:12744	MLXIPL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12744		
HGNC:24717	PTCD3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24717		
MONDO:0021152	inherited	biolink:Disease	mondo	EFO:0004420		familial|genetic|hereditary|constitutitional genetic|inherited genetic	http://purl.obolibrary.org/obo/MONDO_0021152	A characteristic of a disease in which the cause of the disease is a genetic problem inherited from either or both parents.	
MONDO:0021151	non-genetic	biolink:Disease	mondo			non-genomic	http://purl.obolibrary.org/obo/MONDO_0021151		
MONDO:0021150	obsolete genetic characteristic	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021150		
MONDO:0060715	tumoral calcinosis, hyperphosphatemic, familial, 3	biolink:Disease	mondo	OMIM:617994		HFTC3|tumoral calcinosis, hyperphosphatemic, familial, 3; HFTC3	http://purl.obolibrary.org/obo/MONDO_0060715		http://identifiers.org/omim/617994
MONDO:0060714	tumoral calcinosis, hyperphosphatemic, familial, 2	biolink:Disease	mondo	OMIM:617993		HFTC2|tumoral calcinosis, hyperphosphatemic, familial, 2; HFTC2	http://purl.obolibrary.org/obo/MONDO_0060714		http://identifiers.org/omim/617993
MONDO:0060713	deafness, congenital heart defects, and posterior embryotoxon	biolink:Disease	mondo	OMIM:617992|MESH:C566604		deafnes, congenital heart defects, and posterior embryotoxon; DCHE|DCHE	http://purl.obolibrary.org/obo/MONDO_0060713		http://identifiers.org/omim/617992|MESH:C566604
MONDO:0060712	developmental delay, intellectual disability, obesity, and dysmorphic features	biolink:Disease	mondo	UMLS:CN248510|OMIM:617991		developmental delay, INTELLECTUAL disability, obesity, and DYSMORPHIC features; DIDOD|DIDOD	http://purl.obolibrary.org/obo/MONDO_0060712		UMLS:CN248510|http://identifiers.org/omim/617991
MONDO:0021159	gonococcal salpingitis	biolink:Disease	mondo	UMLS:C0341811|SCTID:237038001		Neisseria gonorrhoeae salpingitis|Neisseria gonorrhoeae caused salpingitis	http://purl.obolibrary.org/obo/MONDO_0021159	An salpingitis caused by infection with Neisseria gonorrhoeae.	UMLS:C0341811|SNOMEDCT:237038001
MONDO:0021158	gonococcal epididymo-orchitis	biolink:Disease	mondo	SCTID:236772009|UMLS:C0341782			http://purl.obolibrary.org/obo/MONDO_0021158		UMLS:C0341782|SNOMEDCT:236772009
MONDO:0060711	Jaberi-Elahi syndrome	biolink:Disease	mondo	UMLS:CN244943|OMIM:617988		JABELS|Jaberi-Elahi syndrome; JABELS	http://purl.obolibrary.org/obo/MONDO_0060711		http://identifiers.org/omim/617988|UMLS:CN244943
MONDO:0021157	gonococcal cervicitis	biolink:Disease	mondo	UMLS:C0812378|SCTID:237083000		gonorrhea of cervix|gonorrhea of uterine cervix	http://purl.obolibrary.org/obo/MONDO_0021157		UMLS:C0812378|SNOMEDCT:237083000
MONDO:0021156	hypophysitis	biolink:Disease	mondo	SCTID:237705001|NCIT:C12399|MESH:D000072659|UMLS:C0342409		pituitary|nervous system, pituitary|pituitary gland inflammation|hypophysis cerebri|gland, pituitary|hypophysis|hypophysitides|pituitary gland|inflammation of pituitary gland	http://purl.obolibrary.org/obo/MONDO_0021156	Inflammation of the pituitary gland.	NCIT:C12399|MESH:D000072659|UMLS:C0342409|SNOMEDCT:237705001
MONDO:0008178	inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1	biolink:Disease	mondo	MESH:C563476|OMIM:167320|DOID:0111385|NCIT:C122663		lower motor neuron degeneration with Paget-like bone disease|IBMPFD1|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 1|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1; IBMPFD1|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1|pagetoid amyotrophic lateral sclerosis|multisystem proteinopathy 1|muscular dystrophy, limb-girdle, with Paget disease of bone	http://purl.obolibrary.org/obo/MONDO_0008178	A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia.	http://identifiers.org/omim/167320|NCIT:C122663|DOID:0111385|MESH:C563476
MONDO:0008179	paroxysmal extreme pain disorder	biolink:Disease	mondo	GARD:0012854|Orphanet:46348|MESH:C563475|NCIT:C125385|DOID:0111537|ICD9:349.89|UMLS:C1833661|OMIM:167400|SCTID:699190008	gard_rare|ordo_disease	paroxysmal extreme pain disorder|rectal pain, familial|submandibular, ocular, and rectal pain with flushing|pain, submandibular, ocular, and rectal, with flushing|Pexpd|PEPD|familial rectal pain|familial rectal syndrome	http://purl.obolibrary.org/obo/MONDO_0008179	Paroxysmal extreme pain disorder is a rare disorder of abnormal pain sensation.	UMLS:C1833661|http://identifiers.org/omim/167400|DOID:0111537|MESH:C563475|SNOMEDCT:699190008|NCIT:C125385|ORPHA:46348
MONDO:0021155	X-linked cone-rod dystrophy	biolink:Disease	mondo			cone-rod dystrophy, X-linked	http://purl.obolibrary.org/obo/MONDO_0021155	X-linked form of cone-rod dystrophy.	
MONDO:0008176	Paget disease of bone 3	biolink:Disease	mondo	GARD:0004191|OMIM:167250|UMLS:C4085252		Paget disease of bone type 3|Paget disease of bone 3|PDB3|Paget disease of bone, familial|Paget disease of bone 3; PDB3|familial Paget disease of bone	http://purl.obolibrary.org/obo/MONDO_0008176		UMLS:C4085252|http://identifiers.org/omim/167250
MONDO:0021154	dermis disease	biolink:Disease	mondo	UMLS:CN227618|Orphanet:79381	ordo_group_of_disorders	disease of dermis|other dermis disorder|disease or disorder of dermis|disorder of dermis|dermis disease|dermis disease or disorder|disorder of dermis	http://purl.obolibrary.org/obo/MONDO_0021154	A disease that involves the dermis.	UMLS:CN227618|ORPHA:79381
MONDO:0008177	extramammary Paget disease	biolink:Disease	mondo	NCIT:C3302|GARD:0004192|UMLS:C0030186|ICDO:8542/3|Orphanet:2800|MESH:D010145|OMIM:167300|ICD10:C44.5|ONCOTREE:EMPD|EFO:1000249|MedDRA:10033366|MedDRA:10068223	ordo_disease	extramammary Paget disease|Paget's skin disease|Paget disease, EXTRAMAMMARY|cutaneous Paget's disease|Paget disease Extramammary|Paget's disease of skin|EMPD|Paget's disease of the skin|Extramammary Paget's disease	http://purl.obolibrary.org/obo/MONDO_0008177	A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva.	ORPHA:2800|MEDDRA:10033366|MESH:D010145|MEDDRA:10068223|NCIT:C3302|UMLS:C0030186|http://identifiers.org/omim/167300
NCBITaxon:951	Neorickettsia sennetsu	organism taxon	mondo	PMID:11594628|PMID:11760958|GC_ID:11|PMID:1736961		Rickettsia sennetsu|Ehrlichia sennetsu	http://purl.obolibrary.org/obo/NCBITaxon_951		
MONDO:0021153	obsolete genetic and acquired	biolink:Disease	mondo			somatic genetic	http://purl.obolibrary.org/obo/MONDO_0021153		
MONDO:0008174	pachyonychia congenita 2	biolink:Disease	mondo	OMIM:167210		pachyonychia congenita, Jackson-Lawler type, formerly|pachyonychia congenita, Jackson-Lawler type|pachyonychia congenita type 2|PC2|pachyonychia congenita caused by mutation in KRT17|KRT17 pachyonychia congenita|pachyonychia congenita 2|pachyonychia congenita 2; PC2	http://purl.obolibrary.org/obo/MONDO_0008174	Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT17 gene.	http://identifiers.org/omim/167210
MONDO:0008175	pacman dysplasia	biolink:Disease	mondo	Orphanet:1952|GARD:0004189|ICD10:Q77.8|MESH:C538095|UMLS:C1833676|SCTID:722127006|OMIM:167220	ordo_malformation_syndrome|gard_rare	epiphyseal stippling with osteoclastic hyperplasia|pacman dysplasia|Pacman syndrome|epiphyseal stippling syndrome-osteoclastic hyperplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0008175	Pacman dysplasia is characterized by epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal cloaking. Patients also have short metacarpals. The syndrome may be inherited as an autosomal recessive trait. This disorder should be included in the differential diagnosis of mucolipidosis type II. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal.	ORPHA:1952|SNOMEDCT:722127006|MESH:C538095|http://identifiers.org/omim/167220|UMLS:C1833676
MONDO:0008172	PHOAD	biolink:Disease	mondo	UMLS:C2674695|OMIM:167100		pachydermoperiostosis, autosomal dominant|PDP, autosomal dominant|hypertrophic osteoarthropathy, primary, autosomal dominant; PHOAD|PHOAD|Pho, autosomal dominant|hypertrophic osteoarthropathy, primary, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008172		UMLS:C2674695|http://identifiers.org/omim/167100
NCBITaxon:30727	Cyprinoidei	organism taxon	mondo	GC_ID:1		Cyprinoidea	http://purl.obolibrary.org/obo/NCBITaxon_30727		
MONDO:0008173	pachyonychia congenita 1	biolink:Disease	mondo	SCTID:39427000|OMIM:167200		pachyonychia congenita, Jadassohn-Lewandowsky type, formerly|pachyonychia congenita type 1|pachyonychia congenita, Jadassohn-Lewandowsky type|PC1|KRT16 pachyonychia congenita|pachyonychia congenita caused by mutation in KRT16|Jadassohn-Lewandowsky syndrome, formerly|Jadassohn-Lewandowsky syndrome|pachyonychia congenita 1|pachyonychia congenita 1; PC1	http://purl.obolibrary.org/obo/MONDO_0008173	Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT16 gene.	http://identifiers.org/omim/167200|SNOMEDCT:39427000
MONDO:0008170	ovarian cancer	biolink:Disease	mondo	NCIT:C7431|MESH:D010051|Orphanet:213500|DOID:2394|ICD9:183.0|ICD10:C56|GARD:0007295|SCTID:363443007|COHD:4181351|OMIM:167000		malignant neoplasm of the ovary|primary ovarian cancer|ovarian cancer|ovary neoplasm|ovarian cancer, NOS|ovarian malignant tumor|malignant tumour of ovary|malignant tumor of the ovary|cancer of ovary|malignant ovarian neoplasm|ovarian cancer, epithelial|malignant tumor of ovary|cancer of the ovary|ovary cancer|malignant ovarian tumor|ovarian neoplasm|tumor of the ovary|malignant neoplasm of ovary|malignant ovary neoplasm	http://purl.obolibrary.org/obo/MONDO_0008170	A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas.	NCIT:C7431|MESH:D010051|DOID:2394|SNOMEDCT:363443007|http://identifiers.org/omim/167000|ORPHA:213500
MONDO:0008171	nephrolithiasis	biolink:Disease	mondo	ICD10:N20|MESH:D053040|COHD:201620|SCTID:266556005|EFO:0004253|DOID:585|ICD9:592|EFO:0003845|NCIT:C114667|ICD10:N20.2|COHD:4148260|UMLS:C0392525|UMLS:C0156257		nephrolithiasis, calcium oxalate; CAON|urolithiasis, calcium oxalate|renal calculi|kidney stone|calculus of kidney and ureter|kidney stones|nephrolithiasis, calcium oxalate|CAON|Stone - kidney/ureter	http://purl.obolibrary.org/obo/MONDO_0008171	The presence of a calculus in the pelvis of the kidney; this is most often composed of mineral salts and proteins.	MESH:D053040|UMLS:C0156257|NCIT:C114667|SNOMEDCT:266556005|UMLS:C0392525|DOID:585
HGNC:12712	VPS33B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12712		
FOODON:00001854	fish food product analog	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00001854		
GO:0015152	glucose-6-phosphate transmembrane transporter activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0015152	Enables the transfer of glucose-6-phosphate from one side of a membrane to the other. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6.	
MONDO:0021141	acquired	biolink:Disease	mondo	Orphanet:409941		not genetically inherited	http://purl.obolibrary.org/obo/MONDO_0021141		ORPHA:409941
MONDO:0021140	congenital	biolink:Disease	mondo			inborn	http://purl.obolibrary.org/obo/MONDO_0021140	A characteristic of a disease in which the disease is present at birth, regardless of cause.	
NCBITaxon:967	Spirillum	organism taxon	mondo	PMID:19625415|GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_967		
MONDO:0060707	Ververi-Brady syndrome	biolink:Disease	mondo	UMLS:CN244927|OMIM:617982|Orphanet:580940		Ververi-Brady syndrome; VERBRAS|VERBRAS	http://purl.obolibrary.org/obo/MONDO_0060707		http://identifiers.org/omim/617982|ORPHA:580940|UMLS:CN244927
MONDO:0060704	neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures	biolink:Disease	mondo	OMIM:617977|UMLS:CN244929		neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures; NEDSBAS|NEDSBAS|Elhattab-Alkuraya syndrome	http://purl.obolibrary.org/obo/MONDO_0060704		http://identifiers.org/omim/617977|UMLS:CN244929
MONDO:0060702	spondyloepimetaphyseal dysplasia, di rocco type	biolink:Disease	mondo	OMIM:617974|UMLS:CN244923		SEMDDR|spondyloepimetaphyseal dysplasia, Di Rocco type	http://purl.obolibrary.org/obo/MONDO_0060702		http://identifiers.org/omim/617974|UMLS:CN244923
MONDO:0021149	genetic vs non-genetic etiology	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021149		
HGNC:12718	VRK1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12718		
MONDO:0021148	female reproductive system neoplasm	biolink:Disease	mondo	EFO:1001331|MESH:D005833|UMLS:C0017416|NCIT:C3053		female reproductive organ neoplasm (disease)|tumor of female reproductive system|gynecologic neoplasm|neoplasm of the female reproductive system|gynecologic tumor|neoplasm of female reproductive system|female reproductive system neoplasm|female reproductive system tumor|tumor of the female reproductive system|neoplasm of female reproductive organ|female reproductive organ tumor|female reproductive system neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0021148	A benign, precancerous, or malignant neoplasm that affects the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, ovarian carcinoma, cervical carcinoma, and endometrial carcinoma.	UMLS:C0017416|MESH:D005833|NCIT:C3053
MONDO:0021147	disorder of development or morphogenesis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021147	Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development.	
MONDO:0021146	headache disorder	biolink:Disease	mondo	SCTID:230461009|MESH:D020773|COHD:375527		intractable headaches|headache, chronic daily|cephalgia syndromes|daily headache, chronic|chronic headaches|chronic headache|cephalgia syndrome|headaches, chronic daily|intractable headache|headache disorder|headache, intractable|daily headaches, chronic|syndrome, headache|headache, chronic|chronic daily headaches|headache syndrome|headaches, intractable|headache syndromes|chronic daily headache|headaches, chronic	http://purl.obolibrary.org/obo/MONDO_0021146	Various conditions with the symptom of headache. Headache disorders are classified into major groups, such as primary headache disorders (based on characteristics of their headache symptoms) and secondary headache disorders (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)	MESH:D020773|SNOMEDCT:230461009
MONDO:0021145	disease of genitourinary system	biolink:Disease	mondo	UMLS:C0080276|ICD10:N00.N99|SCTID:42030000		genitourinary system disease|urogenital disease|urogenital disorder|disorder of the genitourinary system|genitourinary system disease or disorder|disorder of genitourinary system|syndrome of the genitourinary system|disease of genitourinary system|disease or disorder of genitourinary system|disorder of genitourinary system	http://purl.obolibrary.org/obo/MONDO_0021145	A disease that involves the genitourinary system.	SNOMEDCT:42030000|UMLS:C0080276
MONDO:0008189	papillomatosis, florid, of nipple	biolink:Disease	mondo	NCIT:C4383|GARD:0010174|MESH:C537167|UMLS:C1868647|SCTID:237467005|OMIM:167950	gard_rare	florid papillomatosis|papillomatosis, florid, of nipple|erosive adenomatosis of nipple|erosive nipple adenomatosis|florid papillomatosis of the nipple|erosive adenomatosis of the nipple|papillomatosis florid of nipple	http://purl.obolibrary.org/obo/MONDO_0008189	A rare benign neoplasm that arises in the area of the nipple. Clinically, it usually presents as a tender erythematous crusting lesion with hardening of the nipple. Morphologically, there is proliferation of ducts lined with epithelial and myoepithelial cells and focal erosion of the epidermis.	http://identifiers.org/omim/167950|UMLS:C1868647|NCIT:C4383|SNOMEDCT:237467005|MESH:C537167
HP:0000309	Abnormality of the midface	biolink:PhenotypicFeature	mondo	UMLS:C4021811		Anomaly of the midface|Deformity of the midface|Malformation of the midface|Abnormality of the midface	http://purl.obolibrary.org/obo/HP_0000309	An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface.	
MONDO:0021144	ovarian clear cell tumor	biolink:Disease	mondo	NCIT:C40076|ONCOTREE:CCOV|UMLS:C0346164		ovarian clear cell neoplasm|clear cell ovarian cancer|ovarian clear cell tumor	http://purl.obolibrary.org/obo/MONDO_0021144	A benign, borderline, or malignant epithelial tumor of the ovary that is characterized by a predominance of clear and hobnail cells.	UMLS:C0346164|NCIT:C40076
MONDO:0021143	melanocytic neoplasm	biolink:Disease	mondo	SCTID:399956005|UMLS:C1302746|MESH:D018326|NCIT:C7058		melanocytic neoplasm|melanomas and nevi	http://purl.obolibrary.org/obo/MONDO_0021143		MESH:D018326|SNOMEDCT:399956005|NCIT:C7058|UMLS:C1302746
MONDO:0008187	panic disorder 1	biolink:Disease	mondo	OMIM:167870		panic disorder|panic disorder susceptibility locus, chromosome 13Q-related|panic disorder with bladder conditions|panic disorder 1|panic disorder with Joint laxity|PAND1|panic disorder 1; PAND1	http://purl.obolibrary.org/obo/MONDO_0008187		http://identifiers.org/omim/167870
MONDO:0008188	papillomatosis, confluent and reticulated	biolink:Disease	mondo	OMIM:167900|UMLS:C0263385|MESH:C566832		papillomatosis, familial cutaneous|papillomatosis, reticulated and confluent, of Gougerot and Carteaud|papillomatosis, confluent and reticulated; carp|papillomatosis, confluent and reticulated|carp	http://purl.obolibrary.org/obo/MONDO_0008188		http://identifiers.org/omim/167900|MESH:C566832|UMLS:C0263385
MONDO:0021142	acquired rippling muscle disease	biolink:Disease	mondo			sporadic rippling muscle disease|acquired rippling muscle disease	http://purl.obolibrary.org/obo/MONDO_0021142	The acquired form of RMD. Although RMD most often is reported with autosomal dominant inheritance, some sporadic cases are found, and an association with other diseases such as myasthenia gravis has also been reported.	
MONDO:0008185	hereditary chronic pancreatitis	biolink:Disease	mondo	ICD9:577.8|SCTID:68072000|NCIT:C95436|GARD:0006632|OMIM:167800|MESH:C537262|Orphanet:676|ICD10:K86.1	ordo_disease|gard_rare|predisposition	pancreatitis, chronic, protection against|autosomal dominant hereditary pancreatitis|pancreatitis, chronic pancreatitis, chronic, susceptibility to, included|Hp|pancreatitis, chronic, susceptibility to|pancreatitis, hereditary|hereditary pancreatitis|pancreatitis, hereditary; PCTT|familial pancreatitis|pancreatitis, calcific, included|PCTT|hereditary chronic pancreatitis|pancreatitis, chronic, protection against, included|pancreatitis, calcific|HPC|pancreatitis, chronic	http://purl.obolibrary.org/obo/MONDO_0008185	Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas.	ORPHA:676|SNOMEDCT:68072000|UMLS:C0341474|NCIT:C95436|MESH:C537262|http://identifiers.org/omim/167800
HP:0002960	Autoimmunity	biolink:PhenotypicFeature	mondo	UMLS:C0004364|MSH:D001327|SNOMEDCT_US:85828009		Autoimmune disease|Autoimmune disorder|Autoimmunity|Autoimmune condition	http://purl.obolibrary.org/obo/HP_0002960	The occurrence of an immune reaction against the organism's own cells or tissues.	
MONDO:0008186	pancytopenia and occlusive vascular disease	biolink:Disease	mondo	UMLS:C1868652|MESH:C566836|OMIM:167850		pancytopenia and occlusive vascular disease	http://purl.obolibrary.org/obo/MONDO_0008186		MESH:C566836|UMLS:C1868652|http://identifiers.org/omim/167850
MONDO:0008183	annular pancreas	biolink:Disease	mondo	NCIT:C98813|GARD:0000705|OMIM:167750|UMLS:C0149955|Orphanet:675|SCTID:40315008|ICD10:Q45.1|MESH:C536376|DOID:0060850|MedDRA:10071757	gard_rare|ordo_morphological_anomaly	pancreas, annular	http://purl.obolibrary.org/obo/MONDO_0008183	Annular pancreas is a distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum.	ORPHA:675|NCIT:C98813|DOID:0060850|UMLS:C0149955|MEDDRA:10071757|http://identifiers.org/omim/167750|SNOMEDCT:40315008|MESH:C536376
MONDO:0008184	pancreas, dorsal, agenesis of	biolink:Disease	mondo	GARD:0004203|OMIM:167755|UMLS:C1868659|MESH:C538109		agenesis of the dorsal pancreas|pancreas, dorsal, agenesis of|complete agenesis of the dorsal pancreas|congenital short pancreas|pancreas agenesis, dorsal|partial agenesis of the dorsal pancreas	http://purl.obolibrary.org/obo/MONDO_0008184		UMLS:C1868659|MESH:C538109|http://identifiers.org/omim/167755
CHEBI:134179	volatile organic compound	biolink:ChemicalSubstance	mondo			VOC|VOCs|volatile organic compounds	http://purl.obolibrary.org/obo/CHEBI_134179	Any organic compound having an initial boiling point less than or equal to 250 degreeC (482 degreeF) measured at a standard atmospheric pressure of 101.3 kPa.	
HP:0000301	Abnormality of facial musculature	biolink:PhenotypicFeature	mondo	UMLS:C4025865		Facial muscle issue|Abnormality of facial muscles	http://purl.obolibrary.org/obo/HP_0000301	An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve).	
MONDO:0008181	palmaris longus muscle, absence of	biolink:Disease	mondo	OMIM:167600		palmaris longus muscle, absence of	http://purl.obolibrary.org/obo/MONDO_0008181		http://identifiers.org/omim/167600
MONDO:0008182	nasopalpebral lipoma-coloboma syndrome	biolink:Disease	mondo	MESH:C538338|UMLS:C1868660|OMIM:167730|ICD10:Q10.3|GARD:0003927|SCTID:723411003|Orphanet:2399	ordo_malformation_syndrome|gard_rare	palpebral coloboma-lipoma syndrome|NPLCS|palpebral coloboma lipoma syndrome|Nasopalpebral lipoma coloboma syndrome|nasopalpebral lipoma-coloboma syndrome|NASOPALPEBRAL lipoma-coloboma syndrome; NPLCS	http://purl.obolibrary.org/obo/MONDO_0008182	Nasopalpebral lipoma-coloboma-telecanthus syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus.	UMLS:C1868660|SNOMEDCT:723411003|ORPHA:2399|MESH:C538338|http://identifiers.org/omim/167730
HGNC:12723	VSX1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12723		
MONDO:0008180	congenital velopharyngeal incompetence	biolink:Disease	mondo	MESH:D014681|OMIM:167500|Orphanet:2291|UMLS:C0042454|ICD10:J39.2|GARD:0005470	ordo_malformation_syndrome	palatopharyngeal incompetence|velopharyngeal incompetence|velopharyngeal insufficiency	http://purl.obolibrary.org/obo/MONDO_0008180	Failure of the soft palate to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (adenoidectomy; cleft palate) or an incompetent palatopharyngeal sphincter. It is characterized by hypernasal speech.	UMLS:C1997202|ORPHA:2291|MESH:D014681|http://identifiers.org/omim/167500|UMLS:C0042454
MONDO:0021139	congenital or acquired	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021139		
MONDO:0033116	spinocerebellar ataxia, autosomal recessive 26	biolink:Disease	mondo	OMIM:617633|DOID:0080260|UMLS:CN417133		SCAR26|spinocerebellar ataxia, autosomal recessive 26; SCAR26|autosomal recessive spinocerebellar ataxia 26	http://purl.obolibrary.org/obo/MONDO_0033116		UMLS:CN417133|http://identifiers.org/omim/617633|DOID:0080260
MONDO:0033115	spinocerebellar ataxia, autosomal recessive 25	biolink:Disease	mondo	OMIM:617584|UMLS:CN349871|DOID:0080259		spinocerebellar ataxia, autosomal recessive 25; SCAR25|autosomal recessive spinocerebellar ataxia 25|SCAR25	http://purl.obolibrary.org/obo/MONDO_0033115		http://identifiers.org/omim/617584|UMLS:CN349871|DOID:0080259
CHEBI:30527	flavin	biolink:ChemicalSubstance	mondo			flavins|Flavin	http://purl.obolibrary.org/obo/CHEBI_30527	A derivative of the dimethylisoalloxazine (7,8-dimethylbenzo[g]pteridine-2,4(3H,10H)-dione) skeleton, with a substituent on the 10 position.	
MONDO:0011724	encephalopathy due to GLUT1 deficiency	biolink:Disease	mondo	MESH:C536830|EFO:0009139|UMLS:C1847501|ICD10:G93.4|Orphanet:71277|OMIM:606777|UMLS:CN030711|GARD:0009265	gard_rare|ordo_disease	glut-1 deficiency syndrome|glucose transporter protein syndrome|GLUT1-DS|encephalopathy due to GLUT1 deficiency|GLUT1 deficiency syndrome 1; GLUT1DS1|glucose transport defect, blood-brain barrier|G1D|glucose transporter type 1 deficiency syndrome|GLUT1 deficiency syndrome type 1|GLUT1 deficiency syndrome|glucose Transport defect, blood-brain barrier|GLUT1 DS|GLUT1 deficiency syndrome 1|glucose transporter type1 (glut-1) deficiency|glucose transporter Protein syndrome|De Vivo disease|glucose TRANSPORT defect, blood-brain barrier GLUT1 deficiency syndrome 1, autosomal recessive, included|GLUT1DS1|GLUT1 deficiency syndrome 1, autosomal recessive|glucose transporter type 1 deficiency	http://purl.obolibrary.org/obo/MONDO_0011724	Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation.	UMLS:CN030711|http://identifiers.org/omim/606777|UMLS:C1847501|ORPHA:71277|MESH:C536830
MONDO:0011723	hemifacial myohyperplasia	biolink:Disease	mondo	SCTID:699420006|GARD:0010084|Orphanet:141148|MESH:C535862|ICD10:Q67.4|OMIM:606773|ICD9:744.89	gard_rare|ordo_malformation_syndrome	hemifacial myohyperplasia|hypertrophy and asymmetry of the facial muscles|HMH|hemifacial myohyperplasia; HMH	http://purl.obolibrary.org/obo/MONDO_0011723	Hemifacial myohyperplasia (HMH) is a developmental disorder that frequently affects the right side of the face and is commonly seen in males. On the affected side of the face, there are usually enlarged tissues that lead to an abnormal jaw shape. Other features associated with HMH include enlargement of the brain, epilepsy, strabismus, genitourinary system disorders, intellectual disability, and dilation of the pupil on the affected side. Asymmetry of the face is more noticeable with age and remains until the end of adolescence when the asymmetry stabilizes. The cause of HMH is unknown; but theories suggest an imbalance in the endocrine system, neuronal abnormalities, chromosomal abnormalities, random events in twinning and fetal development, and vascular or lymphatic abnormalities.	MESH:C535862|SNOMEDCT:699420006|ORPHA:141148|UMLS:C1847521|http://identifiers.org/omim/606773
MONDO:0011726	peripheral arterial occlusive disease 1	biolink:Disease	mondo	OMIM:606787|MESH:C564658|UMLS:C1847493		peripheral arterial occlusive disease type 1|Paod1|peripheral arterial occlusive disease 1	http://purl.obolibrary.org/obo/MONDO_0011726		http://identifiers.org/omim/606787|MESH:C564658|UMLS:C1847493
MONDO:0011725	Crigler-Najjar syndrome type 2	biolink:Disease	mondo	OMIM:606785|ICD10:E80.5|Orphanet:79235|UMLS:C2931132|GARD:0008683|MedDRA:10011387|SCTID:68067009|MESH:C536213	ordo_clinical_subtype|gard_rare	hyperbilirubinemia, Crigler-Najjar type 2|Crigler Najjar syndrome, type 2|bilirubin-UGT deficiency type 2|Crigler-Najjar syndrome, type 2|Arias syndrome|bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2|UGT deficiency type 2|hereditary unconjugated hyperbilirubinemia type 2|Crigler-Najjar syndrome, type II	http://purl.obolibrary.org/obo/MONDO_0011725	Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1.	ORPHA:79235|http://identifiers.org/omim/606785|SNOMEDCT:68067009|UMLS:C2931132|UMLS:C0268311|MEDDRA:10011387|MESH:C536213
GO:0042762	regulation of sulfur metabolic process	biolink:OntologyClass	mondo			regulation of sulfur metabolism|regulation of sulphur metabolism|regulation of sulphur metabolic process	http://purl.obolibrary.org/obo/GO_0042762	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving sulfur, the nonmetallic element sulfur or compounds that contain sulfur.	
MONDO:0011728	blepharospasm	biolink:Disease	mondo	UMLS:C0005747|MESH:D001764|ICD9:333.81|GARD:0005909|OMIM:606798|SCTID:59026006|DOID:529|ICD10:G24.5|COHD:435802		blepharospasm, benign essential, susceptibility to|blepharospasm, benign essential|benign essential blepharospasm|BEB	http://purl.obolibrary.org/obo/MONDO_0011728	Involuntary twitching of the eyelid.	http://identifiers.org/omim/606798|UMLS:C0005747|NCIT:C118723|SNOMEDCT:59026006|MESH:D001764|DOID:529
MONDO:0011727	anorexia nervosa, susceptibility to, 1	biolink:Disease	mondo	OMIM:606788|UMLS:CN244557	predisposition	ANON1|anorexia nervosa, susceptibility to; anon|anorexia nervosa, susceptibility to, 1|anon|AN|anorexia nervosa, susceptibility to, 1; ANON1	http://purl.obolibrary.org/obo/MONDO_0011727		http://identifiers.org/omim/606788|UMLS:CN244557
MONDO:0011729	stroke, susceptibility to, 1	biolink:Disease	mondo	OMIM:606799	predisposition	stroke, susceptibility to, 1|stroke, susceptibility to, type 1|Strk1	http://purl.obolibrary.org/obo/MONDO_0011729		http://identifiers.org/omim/606799
MONDO:0011731	glucose-galactose malabsorption	biolink:Disease	mondo	GARD:0006521|MESH:C562602|Orphanet:35710|MedDRA:10066388|OMIM:606824|ICD9:271.3|ICD10:E74.3|SCTID:190749000	ordo_disease|gard_rare	glucose/galactose malabsorption|carbohydrate intolerance of glucose galactose|glucose/galactose malabsorption; GGM|Complex carbohydrate intolerance|SGLT1 deficiency|GGM|glucose galactose malabsorption deficiency|monosaccharide malabsorption	http://purl.obolibrary.org/obo/MONDO_0011731	Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period.	SNOMEDCT:190749000|MESH:C562602|ORPHA:35710|MEDDRA:10066388|http://identifiers.org/omim/606824
MONDO:0011730	fumaric aciduria	biolink:Disease	mondo	Orphanet:24|GARD:0006476|MESH:C538191|OMIM:606812|SCTID:237983002|DOID:0111261|ICD10:E88.8|UMLS:C2936826|ICD9:282.3	ordo_disease	fumaric aciduria|fumarate hydratase deficiency|FMRD|fumarase deficiency|fumarase deficiency; FMRD	http://purl.obolibrary.org/obo/MONDO_0011730	Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment.	ORPHA:24|SNOMEDCT:237983002|MESH:C538191|UMLS:C2936826|DOID:0111261|http://identifiers.org/omim/606812|UMLS:C0342770
MONDO:0011733	PSMNSB	biolink:Disease	mondo	GARD:0010195|OMIM:606840|MESH:C536389		PSMNSB|nocturnal facio-mandibular myoclonus|parasomnia, sleep bruxism type|parasomnia, sleep bruxism type; PSMNSB|faciomandibular myoclonus, nocturnal|parasomnia, Sleeptalking type	http://purl.obolibrary.org/obo/MONDO_0011733		MESH:C536389|http://identifiers.org/omim/606840
MONDO:0011732	familial digital arthropathy-brachydactyly	biolink:Disease	mondo	Orphanet:85169|MESH:C564656|OMIM:606835|UMLS:C1847406|ICD10:M06.8	ordo_malformation_syndrome	FDAB|digital arthropathy-brachydactyly, familial|digital arthropathy-brachydactyly, familial; FDAB	http://purl.obolibrary.org/obo/MONDO_0011732	Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.	UMLS:C1847406|ORPHA:85169|http://identifiers.org/omim/606835|MESH:C564656
CHEBI:17544	hydrogencarbonate	biolink:ChemicalSubstance	mondo			Hydrogencarbonate|[CO2(OH)](-)|hydrogencarbonate|hydrogen(trioxidocarbonate)(1-)|BICARBONATE ION|hydroxidodioxidocarbonate(1-)|hydrogen carbonate|HCO3(-)|hydrogentrioxocarbonate(1-)|hydrogentrioxocarbonate(IV)|Acid carbonate|hydrogencarbonate(1-)|Bicarbonate|HCO3-	http://purl.obolibrary.org/obo/CHEBI_17544	The carbon oxoanion resulting from the removal of a proton from carbonic acid.	
MONDO:0023704	Martinez Monasterio Pinheiro syndrome	biolink:Disease	mondo	MESH:C536027|UMLS:C2931089|GARD:0003404	n_of_one|gard_rare	cleft lip-palate-oligodontia-syndactyly-hair alterations|cleft lip/palate oligodontia syndactyly hair alterations	http://purl.obolibrary.org/obo/MONDO_0023704	A form of blepharo-cheilo-dontic syndrome with with cleft lip and palate, complete absence of deciduous teeth, hypodontia of permanent teeth, hair alterations, hypertelorism, midface hypoplasia, abnormal EEG, syndactyly, and other findings.	UMLS:C2931089|MESH:C536027
HGNC:3247	EHHADH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3247		
NCBITaxon:39107	Murinae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_39107		
MONDO:0011713	melanoma-pancreatic cancer syndrome	biolink:Disease	mondo	OMIM:606719		familial atypical multiple Mole melanoma-pancreatic carcinoma syndrome|melanoma-pancreatic cancer syndrome	http://purl.obolibrary.org/obo/MONDO_0011713		http://identifiers.org/omim/606719
MONDO:0011712	van der Woude syndrome 2	biolink:Disease	mondo	UMLS:C1847604|MESH:C536529|GARD:0007846|OMIM:606713	gard_rare	VAN DER Woude syndrome 2; VWS2|Van Der Woude syndrome type 2|van der Woude syndrome caused by mutation in GRHL3|van der Woude syndrome 2|GRHL3 van der Woude syndrome|VWS2	http://purl.obolibrary.org/obo/MONDO_0011712	Any van der Woude syndrome in which the cause of the disease is a mutation in the GRHL3 gene.	http://identifiers.org/omim/606713|UMLS:C1847604|MESH:C536529
MONDO:0011715	Seckel syndrome 2	biolink:Disease	mondo	DOID:0070013|MESH:C537534|OMIM:606744|UMLS:C1847572		Seckel syndrome type 2|Seckel syndrome 2|Seckel-type dwarfism 2|microcephalic primordial dwarfism 2|RBBP8 Seckel syndrome|SCKL2|Seckel syndrome 2; SCKL2|Seckel syndrome caused by mutation in RBBP8	http://purl.obolibrary.org/obo/MONDO_0011715	Any Seckel syndrome in which the cause of the disease is a mutation in the RBBP8 gene.	http://identifiers.org/omim/606744|DOID:0070013|UMLS:C1847572|MESH:C537534
MONDO:0011714	partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome	biolink:Disease	mondo	OMIM:606721|UMLS:C3807567		lipodystrophy, partial, with congenital cataracts and neurodegeneration|partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome; LCCNS|partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome|LCCNS	http://purl.obolibrary.org/obo/MONDO_0011714		http://identifiers.org/omim/606721|UMLS:C3807567
MONDO:0011717	hyperinsulinism-hyperammonemia syndrome	biolink:Disease	mondo	Orphanet:35878|ICD10:E72.8|OMIM:606762|NCIT:C131832|GARD:0009931|UMLS:C1847555|MESH:C538375|DOID:0070217	gard_rare|ordo_disease	HHF6|hyperinsulinism hyperammonemia syndrome|hyperinsulinemic hypoglycemia, familial, type 6|glutamate dehydrogenase 1 hyperinsulinism|hyperinsulinemic hypoglycemia, familial, 6|hyperinsulinism-hyperammonemia syndrome|hi/HA syndrome|HA/hi syndrome|hyperinsulinism/hyperammonemia syndrome|hyperinsulinemic hypoglycemia, familial, 6; HHF6|GLUD1 hyperinsulinism|hyperinsulinemic hypoglycemia familial 6|GDH hyperinsulinism	http://purl.obolibrary.org/obo/MONDO_0011717	Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.	http://identifiers.org/omim/606762|NCIT:C131832|DOID:0070217|UMLS:C1847555|ORPHA:35878|MESH:C538375
MONDO:0011716	acute hemorrhagic leukoencephalitis	biolink:Disease	mondo	ICD9:136.9|NCIT:C84535|OMIM:606752|EFO:0007132|DOID:10992|UMLS:C0014077|MESH:D004684|SCTID:72986009|GARD:0008629	gard_rare	AHL|Weston-Hurst syndrome|AHLE|acute hemorrhagic encephalomyelitis|acute necrotizing hemorrhagic leukoencephalitis|acute hemorrhagic leukoencephalitis|Ahl|acute haemorrhagic leucoencephalitis of Weston Hurst	http://purl.obolibrary.org/obo/MONDO_0011716	Acute hemorrhagic leukoencephalitis(AHL) is a veryrareform of acute disseminated encephalomyelitis that usuallyresults indeath. It is characterized by a brief but intense attack of inflammation in the brain and spinal cord that damages the myelin -- the protective covering of the nerve fibers. It may also cause bleeding in the brain, leading to damage of the white matter. Symptoms usually come on quickly, beginning with symptoms such as fever, neck stiffness, fatigue, headache, nausea vomiting,seizures, and coma.AHL has a very poor prognosis, with rapid deterioration and death usually occurring within days to one week after onset of symptoms because of severe inflammation in the brain. Although the exact cause is unclear,AHL usually followsaviral infection, or less often, vaccination for measles, mumps, or rubella. Some researchers think that an infection or vaccination can initiate an autoimmune process in the body thus leading to AHL.	http://identifiers.org/omim/606752|SNOMEDCT:72986009|NCIT:C84535|MESH:D004684|DOID:10992|UMLS:C0014077
MONDO:0011719	gastrointestinal stromal tumor	biolink:Disease	mondo	UMLS:C3179349|ONCOTREE:GIST|ICDO:8936/1|ICD10:C26.9|UMLS:C0238198|MESH:D046152|OMIM:606764|DOID:9253|Orphanet:44890|MedDRA:10051066|NCIT:C3868|SCTID:420120006|GARD:0008598	ordo_disease	gist|gastrointestinal stromal neoplasm|gant|gastrointestinal stromal tumor; gist|stromal tumor of gastrointestinal tract|gastrointestinal stromal tumors|gastrointestinal stromal tumor (gist)|gastrointestinal stromal tumor|gastrointestinal stromal sarcoma	http://purl.obolibrary.org/obo/MONDO_0011719	Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.	MEDDRA:10051066|ORPHA:44890|http://identifiers.org/omim/606764|DOID:9253|MESH:D046152|SNOMEDCT:420120006|UMLS:C0238198|UMLS:C3179349|NCIT:C3868
MONDO:0011718	primary ciliary dyskinesia 2	biolink:Disease	mondo	OMIM:606763|DOID:0110626|MESH:C535277|UMLS:C1847554|ICD10:Q34.8		ciliary dyskinesia, primary, type 2|primary ciliary dyskinesia caused by mutation in DNAAF3|primary ciliary dyskinesia 2 with or without situs inversus|ciliary dyskinesia, primary, 2|ciliary dyskinesia, primary, 2; CILD2|CILD2|ciliary dyskinesia, primary, 2, with or without situs inversus|DNAAF3 primary ciliary dyskinesia|primary ciliary dyskinesia type 2	http://purl.obolibrary.org/obo/MONDO_0011718	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF3 gene.	MESH:C535277|http://identifiers.org/omim/606763|DOID:0110626|UMLS:C1847554
OBO:so#has_part	has_part	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/so#has_part	Inverse of part_of.	
MONDO:0011720	spermatogenic failure 3	biolink:Disease	mondo	MESH:C564665|UMLS:C1847540|DOID:0070168|OMIM:606766		SPGF3|spermatogenic failure 3|spermatogenic failure type 3|SLC26A8 azoospermia|azoospermia caused by mutation in SLC26A8|spermatogenic failure 3; SPGF3	http://purl.obolibrary.org/obo/MONDO_0011720	Any azoospermia in which the cause of the disease is a mutation in the SLC26A8 gene.	DOID:0070168|UMLS:C1847540|http://identifiers.org/omim/606766|MESH:C564665
CL:0000893	thymocyte	biolink:Cell	mondo	FMA:72202|BTO:0001372|XAO:0003159|CALOHA:TS-1042		thymic lymphocyte|immature T cell|immature T-cell|immature T lymphocyte|immature T-lymphocyte	http://purl.obolibrary.org/obo/CL_0000893	An immature T cell located in the thymus.	
GO:0042776	mitochondrial ATP synthesis coupled proton transport	biolink:OntologyClass	mondo			mitochondrial proton transport	http://purl.obolibrary.org/obo/GO_0042776	The transport of protons across a mitochondrial membrane to generate an electrochemical gradient (proton-motive force) that powers ATP synthesis.	
HGNC:12703	BEST1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12703		
CL:0000894	DN1 thymic pro-T cell	biolink:Cell	mondo			DN1 thymic pro-T-lymphocyte|DN1 thymic progenitor T cell|preT.DN1.Th|DN1 thymocyte|double negative 1|DN1 thymic pro-T-cell|DN1 thymic pro-T lymphocyte	http://purl.obolibrary.org/obo/CL_0000894	A pro-T cell that has the phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-negative.	
CL:0000895	naive thymus-derived CD4-positive, alpha-beta T cell	biolink:Cell	mondo			naive CD4+ T cell|T.4Nve.Sp|naive thymus-derived CD4-positive, alpha-beta T-cell|naive thymus-derived CD4-positive, alpha-beta T lymphocyte|naive thymus-derived CD4-positive, alpha-beta T-lymphocyte|Th0	http://purl.obolibrary.org/obo/CL_0000895	An antigen inexperienced CD4-positive, alpha-beta T cell with the phenotype CCR7-positive, CD127-positive and CD62L-positive. This cell type develops in the thymus. This cell type is also described as being CD25-negative, CD62L-high, and CD44-low.	
MONDO:0011722	intellectual disability-obesity-prognathism-eye and skin anomalies syndrome	biolink:Disease	mondo	ICD10:Q87.8|Orphanet:397973|UMLS:C1847522|OMIM:606772|MESH:C564660	ordo_disease	Momes syndrome|mental retardation, obesity, mandibular prognathism, and eye and skin anomalies|MOMES syndrome|intellectual disability, obesity, mandibular prognathism, and eye and skin anomalies	http://purl.obolibrary.org/obo/MONDO_0011722		MESH:C564660|ORPHA:397973|UMLS:C1847522|http://identifiers.org/omim/606772
MONDO:0011721	distal myopathy with anterior tibial onset	biolink:Disease	mondo	UMLS:C1847532|Orphanet:178400|OMIM:606768|ICD10:G71.0|DOID:0111187|MESH:C564664	ordo_disease	myopathy, distal, with anterior tibial onset; DMAT|distal anterior compartment myopathy|myopathy, distal, with anterior tibial onset|DMAT	http://purl.obolibrary.org/obo/MONDO_0011721		MESH:C564664|UMLS:C1847532|ORPHA:178400|DOID:0111187|http://identifiers.org/omim/606768
CL:0000896	activated CD4-positive, alpha-beta T cell	biolink:Cell	mondo			activated CD4-positive, alpha-beta T-cell|activated CD4-positive, alpha-beta T lymphocyte|activated CD4-positive, alpha-beta T-lymphocyte	http://purl.obolibrary.org/obo/CL_0000896	A recently activated CD4-positive, alpha-beta T cell with the phenotype CD69-positive, CD62L-negative, CD127-negative, and CD25-positive.	
HGNC:3259	EIF2B3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3259		
HGNC:3258	EIF2B2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3258		
HGNC:3257	EIF2B1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3257		
HGNC:3255	EIF2AK3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3255		
MONDO:0011709	split hand-foot malformation 5	biolink:Disease	mondo	MESH:C564674|DOID:0090022|ICD10:Q71.6|UMLS:C1847622|OMIM:606708|NCIT:C75002		split-hand/foot malformation 5; SHFM5|split hand-foot malformation type 5|split-hand/foot malformation 5|split-hand/foot malformation type 5|SHFM5	http://purl.obolibrary.org/obo/MONDO_0011709	Split-hand/foot malformation mapped to chromosome 2q31.	NCIT:C75002|DOID:0090022|http://identifiers.org/omim/606708|MESH:C564674|UMLS:C1847622
CHEBI:30501	beryllium atom	biolink:ChemicalSubstance	mondo			berilio|Beryllium|beryllium|4Be|Be|beryllium	http://purl.obolibrary.org/obo/CHEBI_30501	Alkaline earth metal atom with atomic number 4.	
MONDO:0011702	dilated cardiomyopathy 1L	biolink:Disease	mondo	DOID:0110436|OMIM:606685|UMLS:C1847667|ICD10:I42.0|MESH:C564679		dilated cardiomyopathy type 1L|SGCD familial isolated dilated cardiomyopathy|familial isolated dilated cardiomyopathy caused by mutation in SGCD|cardiomyopathy, dilated, type 1L|cardiomyopathy, dilated, 1L|CMD1L|cardiomyopathy, dilated, 1L; CMD1L	http://purl.obolibrary.org/obo/MONDO_0011702	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SGCD gene.	http://identifiers.org/omim/606685|DOID:0110436|MESH:C564679|UMLS:C1847667
UBERON:0007590	cuboidal oviduct epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0007590	A cuboidal epithelium that is part of a oviduct.	
MONDO:0011701	inflammatory bowel disease 4	biolink:Disease	mondo	MESH:C564680|DOID:0110903|UMLS:C1847691|OMIM:606675		inflammatory bowel disease type 4|IBD4|inflammatory bowel disease 4|inflammatory bowel disease 4; IBD4	http://purl.obolibrary.org/obo/MONDO_0011701	An inflammatory bowel disease that has material basis in variation in the chromosome region 14q11-q12.	http://identifiers.org/omim/606675|MESH:C564680|DOID:0110903|UMLS:C1847691
MONDO:0011704	GLC1B	biolink:Disease	mondo	OMIM:606689		glaucoma 1, open angle, B; GLC1B|GLC1B|glaucoma 1, open angle, B	http://purl.obolibrary.org/obo/MONDO_0011704		http://identifiers.org/omim/606689
NCBITaxon:2682482	Mastigamoebida	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2682482		
MONDO:0011703	spongiform encephalopathy with neuropsychiatric features	biolink:Disease	mondo	OMIM:606688|MESH:C564678|UMLS:C1847650		spongiform encephalopathy with neuropsychiatric features	http://purl.obolibrary.org/obo/MONDO_0011703		http://identifiers.org/omim/606688|MESH:C564678|UMLS:C1847650
MONDO:0011706	Kufor-Rakeb syndrome	biolink:Disease	mondo	DOID:0060556|OMIM:606693|MESH:C537177|GARD:0009174|Orphanet:306674|ICD10:G23.0	ordo_disease|clingen	Kufor-Rakeb syndrome; KRS|autosomal recessive Parkinson disease 9|Pallidopyramidal degeneration with supranuclear upgaze paresis, and dementia|Parkinson disease 9, autosomal recessive, juvenile-onset|ceroid lipofuscinosis, neuronal, 12|Pallidopyramidal Degeneration with supranuclear upgaze paresis and dementia|KRS|Parkinson disease type 9|KRPPD|park 9|PARK9|Kufor-Rakeb syndrome|Parkinson disease 9, autosomal recessive|autosomal recessive juvenile onset Parkinson disease 9	http://purl.obolibrary.org/obo/MONDO_0011706	Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.	http://identifiers.org/omim/606693|DOID:0060556|UMLS:C1847640|ORPHA:306674|MESH:C537177
MONDO:0011705	lymphangioleiomyomatosis	biolink:Disease	mondo	ICDO:9174/1|ICD10:J84.81|NCIT:C3725	gard_rare|ordo_disease	lymphangioleiomyomatosis|LAM|lymphangiomyomatosis|lung lymphangioleiomyomatosis|pulmonary lymphangioleiomyomatosis|lymphangioleiomyomatosis; LAM|lymphangio-myomatosis	http://purl.obolibrary.org/obo/MONDO_0011705	A multifocal neoplasm with perivascular epithelioid cell differentiation affecting almost exclusively females of child-bearing age. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lungs, mediastinum, and the retroperitoneum. It usually presents with chylous pleural effusion or ascites.	NCIT:C3725
MONDO:0011708	autosomal dominant nonsyndromic deafness 36	biolink:Disease	mondo	MESH:C564675|OMIM:606705|DOID:0110563|ICD10:H90.3|UMLS:C1847626	clingen	deafness, autosomal dominant 36; DFNA36|autosomal dominant nonsyndromic deafness caused by mutation in TMC1|deafness, autosomal dominant 36|autosomal dominant deafness 36|deafness, autosomal dominant type 36|DFNA36|autosomal dominant nonsyndromic deafness type 36|TMC1 autosomal dominant nonsyndromic deafness	http://purl.obolibrary.org/obo/MONDO_0011708	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene.	http://identifiers.org/omim/606705|DOID:0110563|MESH:C564675|UMLS:C1847626
NCBITaxon:42740	Opalinata	organism taxon	mondo	GC_ID:1		Slopalinida	http://purl.obolibrary.org/obo/NCBITaxon_42740		
MONDO:0011707	familial dyskinesia and facial myokymia	biolink:Disease	mondo	MESH:C564676|GARD:0012722|ICD10:G51.4|SCTID:763352005|Orphanet:324588|OMIM:606703|UMLS:C1847627	ordo_disease	FDFM|dyskinesia, familial, with facial myokymia|dyskinesia, familial, with facial myokymia; FDFM|ADCY5-related dyskinesia	http://purl.obolibrary.org/obo/MONDO_0011707	Familial dyskinesia and facial myokymia (FDFM) is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.	SNOMEDCT:763352005|http://identifiers.org/omim/606703|MESH:C564676|ORPHA:324588|UMLS:C1847627
HGNC:3261	EIF2B5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3261		
HGNC:3260	EIF2B4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3260		
MONDO:0011711	specific language impairment 2	biolink:Disease	mondo	OMIM:606712|UMLS:C1847605		SLI2|specific language impairment quantitative trait locus on chromosome 19|specific language impairment 2; SLI2|specific language impairment 2	http://purl.obolibrary.org/obo/MONDO_0011711		http://identifiers.org/omim/606712|UMLS:C1847605
UBERON:0007592	ciliated columnar epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0007592	Simple columnar epithelium in which the luminal side of the cells bears cilia. Examples: epithelium of trachea, epithelium of uterine tube.[FMA]	
MONDO:0011710	specific language impairment 1	biolink:Disease	mondo	OMIM:606711|UMLS:C1847614		SLI1|specific language impairment quantitative trait locus on chromosome 16|specific language impairment 1; SLI1|specific language impairment 1	http://purl.obolibrary.org/obo/MONDO_0011710		http://identifiers.org/omim/606711|UMLS:C1847614
HGNC:3267	EIF2S3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3267		
MONDO:0011700	inflammatory bowel disease 6	biolink:Disease	mondo	MESH:C564681|DOID:0110907|OMIM:606674|UMLS:C1847692		inflammatory bowel disease 6; IBD6|inflammatory bowel disease 6|inflammatory bowel disease type 6|IBD6	http://purl.obolibrary.org/obo/MONDO_0011700	An inflammatory bowel disease that has material basis in variation in the chromosome region 19p13.	http://identifiers.org/omim/606674|MESH:C564681|DOID:0110907|UMLS:C1847692
UBERON:0007589	ciliated columnar oviduct epithelium	biolink:AnatomicalEntity	mondo			uterine tube epithelium|epithelium of uterine tube	http://purl.obolibrary.org/obo/UBERON_0007589	A ciliated columnar epithelium that is part of a oviduct.	
MONDO:0008118	odontomatosis-aortae esophagus stenosis syndrome	biolink:Disease	mondo	GARD:0000238|SCTID:716180009|Orphanet:2724|MESH:C537740|OMIM:164330|UMLS:C1834013	ordo_malformation_syndrome	odontoma dysphagia syndrome|Odontomatosis (multiple odontomas) with dysphagia|odontoma-dysphagia syndrome|boder syndrome	http://purl.obolibrary.org/obo/MONDO_0008118	Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia.	http://identifiers.org/omim/164330|SNOMEDCT:716180009|UMLS:C1834013|ORPHA:2724|MESH:C537740
MONDO:0008119	spinocerebellar ataxia type 1	biolink:Disease	mondo	NCIT:C129982|GARD:0004071|UMLS:C0752120|SCTID:715748006|ICD10:G11.8|DOID:0050954|Orphanet:98755|OMIM:164400	ordo_disease	OPCA1|ATXN1 autosomal dominant cerebellar ataxia type I|cerebelloparenchymal disorder 1|spinocerebellar atrophy 1|spinocerebellar ataxia 1|spinocerebellar ataxia type 1|autosomal dominant cerebellar ataxia type I caused by mutation in ATXN1|OPCA 4|olivopontocerebellar atrophy 4|spinocerebellar ataxia 1; Sca1|OPCA4|OPCA 1|Menzel type OPCA|olivopontocerebellar atrophy 1|Schut-haymaker type OPCA|Sca1	http://purl.obolibrary.org/obo/MONDO_0008119	Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.	NCIT:C129982|DOID:0050954|http://identifiers.org/omim/164400|SNOMEDCT:715748006|UMLS:C0752120|ORPHA:98755
MONDO:0008116	oculopharyngeal muscular dystrophy	biolink:Disease	mondo	UMLS:C0270952|GARD:0007245|NCIT:C84942|ICD10:G71.0|SCTID:77097004|Orphanet:270|DOID:11719|MESH:D039141|OMIM:164300|MedDRA:10052181	gard_rare|ordo_disease	oculopharyngeal muscular dystrophy|OPMD|oculopharyngeal muscular dystrophy; OPMD|muscular dystrophy, oculopharyngeal	http://purl.obolibrary.org/obo/MONDO_0008116	Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness.	http://identifiers.org/omim/164300|SNOMEDCT:77097004|DOID:11719|NCIT:C84942|MESH:D039141|MEDDRA:10052181|ORPHA:270|UMLS:C0270952
MONDO:0011768	myasthenia gravis with thymus hyperplasia	biolink:Disease	mondo	OMIM:607085|UMLS:C1846838|MESH:C564628		myasthenia gravis with thymus hyperplasia|Myas1	http://purl.obolibrary.org/obo/MONDO_0011768		UMLS:C1846838|http://identifiers.org/omim/607085|MESH:C564628
CL:0000842	mononuclear cell	biolink:Cell	mondo	BTO:0000878|FMA:86713|CALOHA:TS-0768		peripheral blood mononuclear cell|mononuclear leukocyte	http://purl.obolibrary.org/obo/CL_0000842	A leukocyte with a single non-segmented nucleus in the mature form.	
MONDO:0011767	autosomal recessive nonsyndromic deafness 31	biolink:Disease	mondo	DOID:0110490|ICD10:H90.3|UMLS:C1846839|MESH:C564629|OMIM:607084		autosomal recessive nonsyndromic deafness type 31|WHRN autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 31|deafness, autosomal recessive 31|DFNB31|deafness, autosomal recessive 31; DFNB31|autosomal recessive deafness 31|autosomal recessive nonsyndromic deafness caused by mutation in WHRN|whirler, mouse, homolog of	http://purl.obolibrary.org/obo/MONDO_0011767	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the WHRN gene.	UMLS:C1846839|http://identifiers.org/omim/607084|DOID:0110490|MESH:C564629
CL:0000843	follicular B cell	biolink:Cell	mondo			Fo B-cell|follicular B-cell|follicular B lymphocyte|follicular B-lymphocyte|Fo B cell	http://purl.obolibrary.org/obo/CL_0000843	A resting mature B cell that has the phenotype IgM-positive, IgD-positive, CD23-positive and CD21-positive, and found in the B cell follicles of the white pulp of the spleen or the corticol areas of the peripheral lymph nodes. This cell type is also described as being CD19-positive, B220-positive, AA4-negative, CD43-negative, and CD5-negative.	
MONDO:0008117	obsolete oculopharyngodistal myopathy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0008117		
MONDO:0008114	obsessive-compulsive disorder	biolink:Disease	mondo	COHD:440374|EFO:0004242|NCIT:C88411|MESH:D009771|OMIM:164230|SCTID:191736004|ICD10:F42|DOID:10933|ICD9:300.3		OCD|obsessive-compulsive disorder; OCD|obsessive compulsive disorder|Anancastic neurosis|obsessive-compulsive disorder	http://purl.obolibrary.org/obo/MONDO_0008114	A disorder characterized by the presence of persistent and recurrent irrational thoughts (obsessions), resulting in marked anxiety and repetitive excessive behaviors (compulsions) as a way to try to decrease that anxiety.	SNOMEDCT:191736004|DOID:10933|NCIT:C88411|MESH:D009771|http://identifiers.org/omim/164230
CL:0000845	marginal zone B cell	biolink:Cell	mondo			marginal zone B-lymphocyte|MZ B cell|MZ B-cell|MZ B lymphocyte|MZ B-lymphocyte|marginal zone B-cell|marginal zone B lymphocyte	http://purl.obolibrary.org/obo/CL_0000845	A mature B cell that is located in the marginal zone of the spleen with the phenotype CD23-negative and CD21-positive and expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL. This cell type is also described as being CD19-positive, B220-positive, IgM-high, AA4-negative, CD35-high.	
MONDO:0008115	Feingold syndrome type 1	biolink:Disease	mondo	SCTID:702431004|ICD9:759.89|ICD10:Q87.8|OMIM:164280|Orphanet:391641|UMLS:CN204984	ordo_clinical_subtype	digital anomalies with short palpebral fissures and atresia of esophagus or duodenum|microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1|oculodigitoesophagoduodenal syndrome|microcephaly-oculo-digito-esophageal-duodenal syndrome|FS1|microcephaly-digital anomalies-normal intelligence syndrome type 1|Feingold syndrome|Mmt syndrome|Oded syndrome|microcephaly, intellectual disability, and tracheoesophageal fistula syndrome|microcephaly and digital abnormalities with normal intelligence|oculo-digito-esophageal-duodenal syndrome type 1|ODED syndrome type 1|Feingold syndrome 1; FGLDS1|Feingold syndrome 1|MODED syndrome type 1|Feingold syndrome caused by mutation in MYCN|Brunner-Winter syndrome type 1|microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1|microcephaly, mental retardation, and tracheoesophageal fistula syndrome|MYCN Feingold syndrome|digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1|Feingold syndrome type 1|FGLDS1|MMT type 1	http://purl.obolibrary.org/obo/MONDO_0008115	Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies.	UMLS:CN204984|ORPHA:391641|SNOMEDCT:702431004|http://identifiers.org/omim/164280
NCBITaxon:40141	Sigmodontinae	organism taxon	mondo	PMID:15019624|GC_ID:1|PMID:15371245			http://purl.obolibrary.org/obo/NCBITaxon_40141		
MONDO:0011769	obsolete familial aortic dissection	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0011769		
MONDO:0008112	Goldenhar syndrome	biolink:Disease	mondo	GARD:0006540|MESH:D006053|ICD9:759.89|NCIT:C84740|OMIM:164210|Orphanet:374|ICD10:Q87.0|SCTID:367462009|UMLS:C0265240|DOID:2907	ordo_malformation_syndrome	Oav dysplasia|first arch syndrome|oculoauriculovertebral syndrome|facioauriculovertebral dysplasia|first and second branchial arch syndrome|HFM|Goldenhar syndrome|hemifacial microsomia|oculoauriculovertebral spectrum|Fav sequence|oculoauriculovertebral dysplasia|OAVS|Expanded spectrum of hemifacial microsomia|facioauriculovertebral sequence|Goldenhar disease|facio-auriculo-vertebral spectrum|OAV dysplasia|OAV (oculoauriculovertebral) dysplasia|Expanded spectrum hemifacial microsomia|hemifacial microsomia; HFM|otomandibular dysostosis	http://purl.obolibrary.org/obo/MONDO_0008112	A common birth defect involving the first and second branchial arch derivatives. It typically affects the external ear, middle ear, mandible and temporomandibular joint, muscles of mastication and facial muscles, and other facial soft tissues on the affected side. In some cases, other facial structures, such as the orbit, eye, nose, cranium, or neck, may be involved. Involvement is usually limited to one side, but bilateral involvement is known. In addition to craniofacial anomalies, there may be cardiac, vertebral, and central nervous system defects. The phenotype is highly variable. Most cases are sporadic, but there are rare familial cases that exhibit autosomal dominant inheritance.	DOID:2907|NCIT:C84740|SNOMEDCT:367462009|UMLS:C0265240|ORPHA:374|UMLS:C0432130|http://identifiers.org/omim/164210|MESH:D006053
MONDO:0008113	Schilbach-Rott syndrome	biolink:Disease	mondo	SCTID:721902002|MESH:C563509|OMIM:164220|Orphanet:2353|GARD:0002930|ICD10:Q87.8	gard_rare|ordo_malformation_syndrome	cleft palate, hypotelorism, and hypospadias|BRSS|ocular hypotelorism, submucosal cleft palate, and hypospadias|hypotelorism cleft palate hypospadias|blepharofacioskeletal syndrome|hypotelorism-cleft palate-hypospadias syndrome|Schilbach-Rott syndrome	http://purl.obolibrary.org/obo/MONDO_0008113	Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males.	MESH:C563509|SNOMEDCT:721902002|ORPHA:2353|http://identifiers.org/omim/164220
MONDO:0008110	ocular dominance	biolink:Disease	mondo	OMIM:164190		ocular dominance	http://purl.obolibrary.org/obo/MONDO_0008110		http://identifiers.org/omim/164190
MONDO:0008111	oculodentodigital dysplasia	biolink:Disease	mondo	ICD9:759.89|ICD10:Q87.8|SCTID:38215007|DOID:0060291|MESH:C563160|MedDRA:10063691|OMIM:164200|Orphanet:2710|GARD:0007239	ordo_malformation_syndrome|gard_rare	oculodentodigital dysplasia|oculo-dento-digital dysplasia|Meyer-Schwickerath syndrome|oculodentodigital syndrome|ODDD syndrome|oculodentoosseous dysplasia|oculodentodigital dysplasia; ODDD|ODDD|oculo-dento-digital syndrome|odd syndrome	http://purl.obolibrary.org/obo/MONDO_0008111	Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.	SNOMEDCT:38215007|ORPHA:2710|MEDDRA:10063691|http://identifiers.org/omim/164200|UMLS:C0812437|MESH:C563160|DOID:0060291
MONDO:0011771	distal spinal muscular atrophy type 3	biolink:Disease	mondo	ICD10:G12.2|OMIM:607088|UMLS:C1846823|DOID:0111211|MESH:C564626|Orphanet:139547	ordo_disease	dHMN3 and dHMN4|dHMN4|spinal muscular atrophy, distal, autosomal recessive, 3; dSMA3|dHMN3|HMN 4|dSMA3|HMN 3|spinal muscular atrophy, distal, autosomal recessive, 3|autosomal recessive distal spinal muscular atrophy type 3|neuronopathy, distal hereditary motor, type 4|distal hereditary motor neuropathy type 3 and type 4|neuropathy, distal hereditary motor, type 4|neuronopathy, distal hereditary motor, type 3	http://purl.obolibrary.org/obo/MONDO_0011771	Distal spinal muscular atrophy type 3 is a rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction.	http://identifiers.org/omim/607088|DOID:0111211|MESH:C564626|ORPHA:139547|UMLS:C1846823
MONDO:0011770	aortic aneurysm, familial thoracic 2	biolink:Disease	mondo	MESH:C564627|UMLS:C1846837|OMIM:607087		aortic aneurysm, familial thoracic 2|FAA2|AAT2|aortic aneurysm, familial thoracic 2; AAT2	http://purl.obolibrary.org/obo/MONDO_0011770		MESH:C564627|UMLS:C1846837|http://identifiers.org/omim/607087
MONDO:0011773	anauxetic dysplasia	biolink:Disease	mondo	OMIMPS:607095|UMLS:CN029084|DOID:0050640|Orphanet:93347|MESH:C538256|ICD10:Q77.7|UMLS:C1846796|GARD:0009657	prototype_pattern|ordo_disease	spondylometaepiphyseal dysplasia, anauxetic type|anauxetic dysplasia 1|anauxetic dysplasia|spondyloepimetaphyseal dysplasia, Menger type|anauxetic dysplasia type 1|spondyloepimetaphyseal dysplasia, anauxetic type|spondylometaepiphyseal dysplasia, Menger type|spondylometaepiphyseal dysplasia anauxetic type|spondylometaepiphyseal dysplasia Menger type|anauxetic dysplasia 1; ANXD1|ANXD1	http://purl.obolibrary.org/obo/MONDO_0011773	A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation.	http://identifiers.org/omim/607095|DOID:0050640|ORPHA:93347|UMLS:CN029084|MESH:C538256|UMLS:C1846796
MONDO:0011772	B4GALT1-CDG	biolink:Disease	mondo	OMIM:607091|DOID:0070256|MESH:C535753|SCTID:725587007|ICD10:E77.8|UMLS:C2931009|GARD:0009841|Orphanet:79332	ordo_disease	carbohydrate deficient glycoprotein syndrome type IId|CDG-IId|congenital disorder of glycosylation, type IId; CDG2D|CDG2D|congenital disorder of glycosylation, type IId|Beta-1,4-galactosyltransferase deficiency|CDG 2D|B4GALT1-CDG (CDG-IId)|congenital disorder of glycosylation type IId|CDG syndrome type IId|congenital disorder of glycosylation type 2d|CDG IId	http://purl.obolibrary.org/obo/MONDO_0011772	B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.	http://identifiers.org/omim/607091|SNOMEDCT:725587007|ORPHA:79332|MESH:C535753|UMLS:C2931009|DOID:0070256
MONDO:0011775	nasopharyngeal carcinoma, susceptibility to, 1	biolink:Disease	mondo	UMLS:C1846758|OMIM:607107	predisposition	nasopharyngeal cancer|nasopharyngeal carcinoma|nasopharyngeal carcinoma caused by mutation in TP53|Npca|NPC|TP53 nasopharyngeal carcinoma|nasopharyngeal carcinoma, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0011775	Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the TP53 gene.	UMLS:C1846758|http://identifiers.org/omim/607107
MONDO:0011774	autosomal recessive nonsyndromic deafness 30	biolink:Disease	mondo	DOID:0110489|UMLS:C1846784|OMIM:607101|MESH:C564624|ICD10:H90.3		autosomal recessive deafness 30|autosomal recessive nonsyndromic deafness type 30|DFNB30|deafness, autosomal recessive type 30|MYO3A autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 30|deafness, autosomal recessive 30; DFNB30|autosomal recessive nonsyndromic deafness caused by mutation in MYO3A	http://purl.obolibrary.org/obo/MONDO_0011774	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO3A gene.	UMLS:C1846784|http://identifiers.org/omim/607101|DOID:0110489|MESH:C564624
MONDO:0011777	Alzheimer disease 8	biolink:Disease	mondo	OMIM:607116|MESH:C564622|DOID:0110041|UMLS:C1846735|ICD10:G30		Alzheimer disease 8|Alzheimer disease, familial, 8|Ad8|Alzheimer's disease 8|Alzheimer disease, familial 8|Alzheimer disease type 8|AD8|Alzheimer's disease type 8	http://purl.obolibrary.org/obo/MONDO_0011777	An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21.	UMLS:C1846735|http://identifiers.org/omim/607116|DOID:0110041|MESH:C564622
MONDO:0011776	CINCA syndrome	biolink:Disease	mondo	ICD10:E85.0|SCTID:239826001|GARD:0001356|ICD9:759.89|OMIM:607115|NCIT:C116380|DOID:0090029|Orphanet:1451	ordo_disease	infantile-onset multisystem inflammatory disease|IOMID syndrome|CINCA syndrome; CINCA|neonatal onset multisystem inflammatory disease|CINCA/NOMID|Cryopyrin-associated periodic syndrome 3|NOMID syndrome|NOMID|chronic infantile neurological cutaneous articular syndrome|Prieur Griscelli syndrome|neonatal-onset multisystem inflammatory disease|multisystem inflammatory disease, neonatal-onset|IOMID|infantile onset multisystem inflammatory disease|cryopyrin-associated periodic syndrome 3|chronic neurologic cutaneous and articular syndrome|CINCA syndrome|CINCA|chronic infantile neurological cutaneous and articular syndrome|Prieur-Griscelli syndrome	http://purl.obolibrary.org/obo/MONDO_0011776	Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.	http://identifiers.org/omim/607115|ORPHA:1451|NCIT:C116380|DOID:0090029|SNOMEDCT:239826001
UBERON:0020550	auricular blood vessel	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0020550	A blood vessel that supplies or drains an ear.	
HGNC:3287	EIF4E	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3287		
MONDO:0008129	ophthalmoplegia, familial total, with iris transillumination	biolink:Disease	mondo	UMLS:C1833836|MESH:C563499|OMIM:165098		ophthalmoplegia, familial total, with iris transillumination	http://purl.obolibrary.org/obo/MONDO_0008129		MESH:C563499|UMLS:C1833836|http://identifiers.org/omim/165098
MONDO:0011757	brachydactyly type A1B	biolink:Disease	mondo	MESH:C564635|UMLS:C1846949|DOID:0110974|OMIM:607004		brachydactyly, type A1, B; BDA1B|BDA1B|brachydactyly, type A1, B	http://purl.obolibrary.org/obo/MONDO_0011757		UMLS:C1846949|http://identifiers.org/omim/607004|MESH:C564635|DOID:0110974
MONDO:0008127	ophthalmomandibulomelic dysplasia	biolink:Disease	mondo	UMLS:C1833872|GARD:0004365|MESH:C563501|OMIM:164900|ICD10:Q87.8|Orphanet:2741|SCTID:715484003	ordo_malformation_syndrome	ophthalmomandibulomelic dysplasia|Ophthalmo-mandibulo-melic dysplasia|OMM syndrome|Omm syndrome|Pillay syndrome	http://purl.obolibrary.org/obo/MONDO_0008127	Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.	MESH:C563501|http://identifiers.org/omim/164900|SNOMEDCT:715484003|UMLS:C1833872|ORPHA:2741
MONDO:0008128	ophthalmoplegia, familial static	biolink:Disease	mondo	UMLS:C1833839|MESH:C563500|OMIM:165000		external ophthalmoplegia, nonprogressive, congenital hereditary|ophthalmoplegia, familial static	http://purl.obolibrary.org/obo/MONDO_0008128		MESH:C563500|UMLS:C1833839|http://identifiers.org/omim/165000
MONDO:0011756	Senior-Loken syndrome 4	biolink:Disease	mondo	MESH:C537581|UMLS:C1846979|OMIM:606996		SENIOR-Loken syndrome 4; SLSN4|Senior-Loken syndrome type 4|SLSN4|NPHP4 Senior-Loken syndrome|Senior-Loken syndrome caused by mutation in NPHP4|Senior-Loken syndrome 4	http://purl.obolibrary.org/obo/MONDO_0011756	Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP4 gene.	UMLS:C1846979|MESH:C537581|http://identifiers.org/omim/606996
HP:0002900	Hypokalemia	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:43339004|UMLS:C0020621|MSH:D007008|SNOMEDCT_US:166690008		Low blood potassium levels	http://purl.obolibrary.org/obo/HP_0002900	An abnormally decreased potassium concentration in the blood.	
MONDO:0008125	nonsyndromic congenital nail disorder 5	biolink:Disease	mondo	OMIM:164800|DOID:0080083|UMLS:C1833909|MESH:C563503		nail disorder, nonsyndromic congenital, 5; NDNC5|onycholysis, partial, with scleronychia|nonsyndromic congenital nail disorder type 5|nail disorder, nonsyndromic congenital, 5|onycholysis, hereditary distal|NDNC5	http://purl.obolibrary.org/obo/MONDO_0008125		http://identifiers.org/omim/164800|MESH:C563503|DOID:0080083|UMLS:C1833909
MONDO:0011759	Hurler-Scheie syndrome	biolink:Disease	mondo	DOID:0111389|ICD10:E76.0|SCTID:73123008|UMLS:C0086431|NCIT:C122782|Orphanet:93476|GARD:0012560|MedDRA:10056916|OMIM:607015	ordo_clinical_subtype	Scheie disease mps type 1s|mucopolysaccharidosis type IH/S|Scheie's syndrome|MPS1H/S|Hurler–Scheie syndrome|MPS1-HS|Hurler-Scheie syndrome|mucopolysaccharidosis type 1H/S|mucopolysaccharidosis type I-S|l-iduronidase deficiency, Scheie type|MPS I H-S|MPSIH/S|mucopolysaccharidosis IH/S|mucopolysaccharidosis type Ih/S|mucopolysaccharidosis type I mild form|mucopolysaccharidosis, mps-I-s	http://purl.obolibrary.org/obo/MONDO_0011759	Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.	ORPHA:93476|MEDDRA:10056916|UMLS:C0086431|SNOMEDCT:73123008|http://identifiers.org/omim/607015|NCIT:C122782|DOID:0111389
MONDO:0011758	Hurler syndrome	biolink:Disease	mondo	NCIT:C61261|GARD:0012559|DOID:0111390|Orphanet:93473|OMIM:607014|ICD10:E76.0	ordo_clinical_subtype	mucopolysaccharidosis type IH|mucopolysaccharidosis type 1H|MPS1H|Hurler syndrome|Hurler disease|MPS1-H|mucopolysaccharidosis IH|MPSIH|MPS I H	http://purl.obolibrary.org/obo/MONDO_0011758	Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.	ORPHA:93473|http://identifiers.org/omim/607014|DOID:0111390|NCIT:C61261
MONDO:0008126	obsolete oncogene Yuasa	biolink:Disease	mondo	OMIM:164891		oncogene Yuasa	http://purl.obolibrary.org/obo/MONDO_0008126		http://identifiers.org/omim/164891
HP:0002901	Hypocalcemia	biolink:PhenotypicFeature	mondo	UMLS:C0020598|MSH:D006996|SNOMEDCT_US:5291005		Low blood calcium levels|Hypocalcaemia	http://purl.obolibrary.org/obo/HP_0002901	An abnormally decreased calcium concentration in the blood.	
MONDO:0008123	autosomal dominant omodysplasia	biolink:Disease	mondo	GARD:0003643|ICD10:Q78.8|Orphanet:93328|SCTID:725165009|OMIM:164745|MESH:C567664	ordo_clinical_subtype	OMOD2|omodysplasia 2; OMOD2|omodysplasia, autosomal dominant|omodysplasia 2	http://purl.obolibrary.org/obo/MONDO_0008123	Autosomal dominant form of omodysplasia.	ORPHA:93328|MESH:C567664|SNOMEDCT:725165009|http://identifiers.org/omim/164745
MONDO:0008124	omphalocele, autosomal	biolink:Disease	mondo	OMIM:164750|GARD:0004218|UMLS:C3277235		type - hypogastric - defect in the caudal fold|omphalocele, autosomal|type - epigastric - defect in the cephalic fold|chromosome 1P31 Duplication syndrome|paraomphalocele	http://purl.obolibrary.org/obo/MONDO_0008124		UMLS:C3277235|http://identifiers.org/omim/164750
MONDO:0008121	onychogryposis, pedal, with keratosis plantaris and coarse hair	biolink:Disease	mondo	MESH:C563506|UMLS:C1833997|OMIM:164680		onychogryposis, pedal, with keratosis plantaris and coarse hair	http://purl.obolibrary.org/obo/MONDO_0008121		UMLS:C1833997|http://identifiers.org/omim/164680|MESH:C563506
HP:0002904	Hyperbilirubinemia	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:26165005|UMLS:C0311468		High blood bilirubin levels	http://purl.obolibrary.org/obo/HP_0002904	An increased amount of bilirubin in the blood.	
HP:0002905	Hyperphosphatemia	biolink:PhenotypicFeature	mondo	UMLS:C0553706|UMLS:C0085681|MSH:D054559|SNOMEDCT_US:20165001		High blood phosphate levels	http://purl.obolibrary.org/obo/HP_0002905	An abnormally increased phosphate concentration in the blood.	
MONDO:0008122	olivopontocerebellar atrophy 5	biolink:Disease	mondo	MESH:C563505|UMLS:C1833995|OMIM:164700		OPCA with dementia and extrapyramidal signs|olivopontocerebellar atrophy type 5|OPCA V|olivopontocerebellar atrophy V; OPCA V	http://purl.obolibrary.org/obo/MONDO_0008122		UMLS:C1833995|http://identifiers.org/omim/164700|MESH:C563505
MONDO:0011760	Scheie syndrome	biolink:Disease	mondo	Orphanet:93474|OMIM:607016|DOID:0060222|ICD10:E76.0|GARD:0012561|UMLS:C0026708|NCIT:C61265	ordo_clinical_subtype|gard_rare	MPS V|MPS5, formerly|MPS1-S|mucopolysaccharidosis Is|MPS I S|mucopolysaccharidosis type IS|MPS1S|mucopolysaccharidosis type 1S|mucopolysaccharidosis type V, formerly|mucopolysaccharidosis type V|Scheie syndrome|MPSIS|MPS V, formerly	http://purl.obolibrary.org/obo/MONDO_0011760	Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.	http://identifiers.org/omim/607016|UMLS:C0026708|NCIT:C61265|DOID:0060222|ORPHA:93474
MONDO:0008120	spinocerebellar ataxia type 7	biolink:Disease	mondo	DOID:0050958|OMIM:164500|ICD10:G11.8|Orphanet:94147|SCTID:715726000|NCIT:C126562|UMLS:C0752125|GARD:0004955	ordo_disease	ADCA, type II|autosomal dominant cerebellar ataxia type II caused by mutation in ATXN7|OPCA with macular Degeneration and external ophthalmoplegia|OPCA 3|olivopontocerebellar atrophy 3|Adca, type 2|cerebellar syndrome-pigmentary maculopathy syndrome|OPCA with retinal Degeneration|ATXN7 autosomal dominant cerebellar ataxia type II|OPCA3|OPCA III|ataxia with pigmentary retinopathy|spinocerebellar ataxia 7; SCA7|spinocerebellar ataxia 7|spinocerebellar ataxia type 7|SCA7|autosomal dominant cerebellar ataxia, type 2	http://purl.obolibrary.org/obo/MONDO_0008120	Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.	SNOMEDCT:715726000|UMLS:C0752125|DOID:0050958|http://identifiers.org/omim/164500|NCIT:C126562|ORPHA:94147
HGNC:3296	EIF4G1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3296		
MONDO:0011762	autosomal recessive nonsyndromic deafness 22	biolink:Disease	mondo	MESH:C564633|OMIM:607039|DOID:0110480|ICD10:H90.3|UMLS:C1846896		autosomal recessive nonsyndromic deafness caused by mutation in OTOA|OTOA autosomal recessive nonsyndromic deafness|autosomal recessive deafness 22|DFNB22|deafness, autosomal recessive type 22|autosomal recessive nonsyndromic deafness type 22|deafness, autosomal recessive 22; DFNB22|deafness, autosomal recessive 22	http://purl.obolibrary.org/obo/MONDO_0011762	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOA gene.	UMLS:C1846896|http://identifiers.org/omim/607039|DOID:0110480|MESH:C564633
MONDO:0011761	autosomal dominant nonsyndromic deafness 21	biolink:Disease	mondo	MESH:C564634|UMLS:C1846922|ICD10:H90.3|OMIM:607017|DOID:0110551		autosomal dominant nonsyndromic deafness type 21|deafness, autosomal dominant 21|deafness, autosomal dominant 21; DFNA21|DFNA21|autosomal dominant deafness 21	http://purl.obolibrary.org/obo/MONDO_0011761	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p24.1-p22.3.	UMLS:C1846922|http://identifiers.org/omim/607017|DOID:0110551|MESH:C564634
MONDO:0011764	autosomal dominant Parkinson disease 8	biolink:Disease	mondo	UMLS:C1846862|OMIM:607060|DOID:0060371		PARK8|autosomal dominant Parkinson's disease 8|Parkinson disease 8, autosomal dominant; PARK8|Parkinson disease 8, autosomal dominant|autosomal dominant Parkinson disease type 8|LRRK2 Parkinson disease|Parkinson disease caused by mutation in LRRK2	http://purl.obolibrary.org/obo/MONDO_0011764	Any Parkinson disease in which the cause of the disease is a mutation in the LRRK2 gene.	UMLS:C1846862|http://identifiers.org/omim/607060|DOID:0060371
MONDO:0011763	T-box 24	biolink:Disease	mondo	OMIM:607044		T-box type 24|Tbx24|T-box 24	http://purl.obolibrary.org/obo/MONDO_0011763		http://identifiers.org/omim/607044
MONDO:0011766	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome	biolink:Disease	mondo	UMLS:C2751325|OMIM:607080|MESH:C567773|ICD10:Q56.1|Orphanet:168563	ordo_malformation_syndrome	46,XY gonadal dysgenesis, partial, with MINIFASCICULAR neuropathy	http://purl.obolibrary.org/obo/MONDO_0011766		http://identifiers.org/omim/607080|MESH:C567773|UMLS:C2751325|ORPHA:168563
MONDO:0011765	multiple epiphyseal dysplasia type 5	biolink:Disease	mondo	MESH:C535505|GARD:0009794|Orphanet:93311|UMLS:C4275060|SCTID:715674008|DOID:0070299|UMLS:C1846843|OMIM:607078|ICD10:Q77.3	ordo_disease	BHMED|epiphyseal dysplasia, multiple, 5; EDM5|multiple epiphyseal dysplasia (disease) caused by mutation in MATN3|Microepiphyseal dysplasia, bilateral hereditary|epiphyseal dysplasia, multiple, type 5|epiphyseal dysplasia, multiple, 5|epiphyseal dysplasia multiple 5|bilateral hereditary micro-epiphyseal dysplasia|EDM5|MATN3 multiple epiphyseal dysplasia (disease)|multiple epiphyseal dysplasia, MATN3-related|multiple epiphyseal dysplasia 5|Polyepiphyseal dysplasia type 5|multiple epiphyseal dysplasia, MATN3 related|MED5	http://purl.obolibrary.org/obo/MONDO_0011765	Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.	UMLS:C1846843|http://identifiers.org/omim/607078|MESH:C535505|SNOMEDCT:715674008|UMLS:C4275060|ORPHA:93311|DOID:0070299
CL:0000828	thromboblast	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000828	A progenitor cell of the thrombocyte, a nucleated blood cell involved in coagulation typically seen in birds and other non-mammalian vertebrates.	
CL:0000829	basophilic myeloblast	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000829	A myeloblast committed to the basophil lineage.	
MONDO:0011746	symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch	biolink:Disease	mondo	OMIM:606895|GARD:0008554|UMLS:C1847185|MESH:C538148	gard_rare	symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch|distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch	http://purl.obolibrary.org/obo/MONDO_0011746		UMLS:C1847185|MESH:C538148|http://identifiers.org/omim/606895
CL:0000820	B-1a B cell	biolink:Cell	mondo			B1a B-lymphocyte|CD5(+) B1 cell|CD5-positive B1 cell|B-1a B-cell|B-1a B lymphocyte|B1a cell|B1a B cell|B-1a B-lymphocyte|B1a B-cell|B1a B lymphocyte|CD5+ B1 cell	http://purl.obolibrary.org/obo/CL_0000820	A B-1 B cell that has the phenotype CD5-positive.	
MONDO:0011745	duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery	biolink:Disease	mondo	GARD:0009227|OMIM:606894|UMLS:C1847196|MESH:C535722	gard_rare	duodenojejunal atresia with volvulus, absent dorsal mesentery and absent superior mesenteric artery|duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery	http://purl.obolibrary.org/obo/MONDO_0011745		UMLS:C1847196|http://identifiers.org/omim/606894|MESH:C535722
NCBITaxon:40121	Erythroparvovirus	organism taxon	mondo	GC_ID:1		Erythrovirus	http://purl.obolibrary.org/obo/NCBITaxon_40121		
CL:0000821	B-1b B cell	biolink:Cell	mondo			B1b B-lymphocyte|B-1b B-cell|B-1b B lymphocyte|B1b cell|B1b B cell|B-1b B-lymphocyte|B1b B-cell|B1b B lymphocyte	http://purl.obolibrary.org/obo/CL_0000821	A B-1 B cell that has the phenotype CD5-negative, but having other phenotypic attributes of a B-1 B cell.	
MONDO:0011748	Usher syndrome type 1G	biolink:Disease	mondo	ICD10:H35.5|OMIM:606943|MESH:C564643|UMLS:C1847089|DOID:0110834		Usher syndrome type Ig|USHER syndrome, type Ig|Usher syndrome, type 1G|USH1G Usher syndrome|USH1G|Usher syndrome caused by mutation in USH1G|USHER syndrome, type Ig; USH1G	http://purl.obolibrary.org/obo/MONDO_0011748	Any Usher syndrome in which the cause of the disease is a mutation in the USH1G gene.	DOID:0110834|UMLS:C1847089|http://identifiers.org/omim/606943|MESH:C564643
CL:0000822	B-2 B cell	biolink:Cell	mondo			B2 B-lymphocyte|B-0 B cell|B-2 B-cell|B-2 B lymphocyte|B2 cell|B-2 B-lymphocyte|B2 B cell|B2 B-cell|B2 B lymphocyte	http://purl.obolibrary.org/obo/CL_0000822	A conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells. These cells are CD43-negative.	
MONDO:0011747	dyslexia, susceptibility to, 5	biolink:Disease	mondo	OMIM:606896	predisposition	dyslexia, susceptibility to, 5|DYX5|dyslexia, susceptibility to, 5; DYX5	http://purl.obolibrary.org/obo/MONDO_0011747		http://identifiers.org/omim/606896
CL:0000823	immature natural killer cell	biolink:Cell	mondo			immature NK cell|p-NK	http://purl.obolibrary.org/obo/CL_0000823	A natural killer cell that is developmentally immature and expresses natural killer cell receptors (NKR).	
MONDO:0011749	oculocutaneous albinism type 1B	biolink:Disease	mondo	OMIM:606952|ICD10:E70.3|DOID:0070095|MESH:C537729|Orphanet:79434|UMLS:C1847024|GARD:0000594	ordo_clinical_subtype|gard_rare	Yellow mutant albinism|OCA1B|oculocutaneous albinism, type 1B|Yellow oculocutaneous albinism|albinism, oculocutaneous, type IB; OCA1B|albinism, Yellow mutant type|Oca1-Ts|albinism, oculocutaneous, type IB|oculocutaneous albinism type IB|platinum oculocutaneous albinism|oculocutaneous albinism, Amish type|albinism, oculocutaneous, type 1B|albinism, oculocutaneous, type I, temperature-sensitive|Yellow albinism	http://purl.obolibrary.org/obo/MONDO_0011749	Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves.	UMLS:C1847024|DOID:0070095|MESH:C537729|http://identifiers.org/omim/606952|ORPHA:79434
CL:0000825	pro-NK cell	biolink:Cell	mondo			NKP|preNK cell|natural killer cell progenitor|pro-natural killer cell|null cell	http://purl.obolibrary.org/obo/CL_0000825	A lymphoid progenitor cell that is committed to the natural killer cell lineage, expressing CD122 (IL-15) receptor, but lacking many of the phenotypic characteristics of later stages of natural killer cell development such as expression of NK activating and inhibitory molecules. In human this cell has the phenotype CD34-positive, CD45RA-positive, CD10-positive, CD117-negative, and CD161 negative.	
CL:0000826	pro-B cell	biolink:Cell	mondo	BTO:0003104		pro-B-lymphocyte|pre-pro B cell|progenitor B-lymphocyte|pre-B cell (Philadelphia nomenclature)|progenitor B cell|pro-B-cell|pro-B lymphocyte|progenitor B-cell|progenitor B lymphocyte	http://purl.obolibrary.org/obo/CL_0000826	A progenitor cell of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but not yet fully committed to the B cell lineage until the expression of PAX5 occurs.	
CL:0000827	pro-T cell	biolink:Cell	mondo			DN1 thymocyte|pro-T lymphocyte|DN1 cell|TN1 cell|progenitor T cell	http://purl.obolibrary.org/obo/CL_0000827	A lymphoid progenitor cell of the T cell lineage, with some lineage specific marker expression, but not yet fully committed to the T cell lineage.	
MONDO:0011751	COPD, severe early onset	biolink:Disease	mondo	OMIM:606963		COPD|pulmonary disease, chronic obstructive; COPD|pulmonary disease, chronic obstructive, rate of decline of lung function 1N|pulmonary disease, chronic obstructive, Severe early-onset|Copd, Severe early-onset|pulmonary disease, chronic obstructive	http://purl.obolibrary.org/obo/MONDO_0011751		http://identifiers.org/omim/606963
MONDO:0011750	obsolete insulinoma tumor suppressor gene locus	biolink:Disease	mondo	OMIM:606960		insulinoma tumor suppressor gene locus	http://purl.obolibrary.org/obo/MONDO_0011750		http://identifiers.org/omim/606960
MONDO:0011753	EIG2	biolink:Disease	mondo	DOID:0111317|OMIM:606972	predisposition	EIG2|epilepsy, idiopathic generalized, susceptibility to, 2|epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 14|epilepsy, idiopathic generalized, susceptibility to, 2; EIG2	http://purl.obolibrary.org/obo/MONDO_0011753		DOID:0111317|http://identifiers.org/omim/606972
MONDO:0011752	nephronophthisis 4	biolink:Disease	mondo	SCTID:446989009|UMLS:C1847013|MESH:C564640|OMIM:606966|UMLS:C2959367|DOID:0111115		juvenile nephronophthisis 4|nephronophthisis (disease) caused by mutation in NPHP4|nephronophthisis type 4|nephronophthisis 4; NPHP4|NPHP4|nephronophthisis 4, juvenile|NPHP4 nephronophthisis (disease)|nephronophthisis 4	http://purl.obolibrary.org/obo/MONDO_0011752	Any nephronophthisis in which the cause of the disease is a mutation in the NPHP4 gene.	DOID:0111115|UMLS:C2959367|http://identifiers.org/omim/606966|MESH:C564640|SNOMEDCT:446989009|UMLS:C1847013
MONDO:0011755	SLSN3	biolink:Disease	mondo	MESH:C564637|UMLS:C1846980|OMIM:606995		SLSN3|SENIOR-Loken syndrome 3|SENIOR-Loken syndrome 3; SLSN3	http://purl.obolibrary.org/obo/MONDO_0011755		UMLS:C1846980|MESH:C564637|http://identifiers.org/omim/606995
MONDO:0011754	familial hyperreninemic hypoaldosteronism type 2	biolink:Disease	mondo	UMLS:C1846990|ICD10:E27.4|OMIM:606984|Orphanet:99764|MESH:C564638	ordo_etiological_subtype	aldosterone synthase deficiency unrelated to the aldosterone synthase gene|Fhha2|FHHA2|hyperreninemic hypoaldosteronism, familial, 2|aldosterone synthase deficiency unrelated to CYP11B2|hyperreninemic hypoaldosteronism, familial, type 2	http://purl.obolibrary.org/obo/MONDO_0011754		UMLS:C1846990|ORPHA:99764|http://identifiers.org/omim/606984|MESH:C564638
MONDO:0023726	mediastinal yolk sac tumor	biolink:Disease	mondo	UMLS:C1334683|GARD:0008258|NCIT:C6443		yolk Sac tumor of mediastinum|mediastinum yolk sac tumor|EST|yolk Sac neoplasm of the mediastinum|yolk Sac neoplasm of mediastinum|mediastinal endodermal sinus tumors|mediastinal endodermal sinus tumor|mediastinal endodermal sinus neoplasm|endodermal sinus tumor of the mediastinum|endodermal sinus tumor of mediastinum|endodermal sinus neoplasm of the mediastinum|mediastinal yolk Sac tumor|endodermal sinus neoplasm of mediastinum|mediastinal yolk Sac neoplasm|yolk Sac tumor of the mediastinum	http://purl.obolibrary.org/obo/MONDO_0023726	An extragonadal non-seminomatous malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of small pale cells with small amount of cytoplasm and round to oval nuclei with small nucleoli forming a variety of patterns, including microcystic, macrocystic, pseudopapillary, myxomatous, hepatoid, polyvesicular vitelline, and solid. It manifests with respiratory distress, thoracic pain, fever, and superior vena cava syndrome.	NCIT:C6443|UMLS:C1334683
CL:0000839	myeloid lineage restricted progenitor cell	biolink:Cell	mondo	BTO:0004730|FMA:70339|CALOHA:TS-2099		myeloid progenitor cell	http://purl.obolibrary.org/obo/CL_0000839	A progenitor cell restricted to the myeloid lineage.	
MONDO:0008109	ocular cicatricial pemphigoid	biolink:Disease	mondo	UMLS:C1282359|GARD:0008759|SCTID:314757003|EFO:0008610|NCIT:C84939|OMIM:164185	gard_rare	ocular cicatricial pemphigoid|cicatricial pemphigoid, ocular|pemphigoid, ocular cicatricial|ocular cicatricial pemphigoid; OCP|OCP	http://purl.obolibrary.org/obo/MONDO_0008109	Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCPgenerally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. If left untreated, OCP can progress to severe conjunctiva scarring and vision loss. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown. The treatment of OCP aims to slow disease progression and prevent complications. This usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system.	UMLS:C1282359|http://identifiers.org/omim/164185|SNOMEDCT:314757003|NCIT:C84939
MONDO:0008107	nystagmus, hereditary vertical	biolink:Disease	mondo	OMIM:164150|GARD:0009604|UMLS:C1834078|MESH:C537857	gard_rare	nystagmus, hereditary vertical|congenital hereditary vertical nystagmus|hereditary vertical nystagmus	http://purl.obolibrary.org/obo/MONDO_0008107		MESH:C537857|http://identifiers.org/omim/164150|UMLS:C1834078
NCBITaxon:40119	Parvovirinae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_40119		
MONDO:0008108	oculocerebrocutaneous syndrome	biolink:Disease	mondo	Orphanet:1647|UMLS:C0796092|MESH:C538088|SCTID:403554008|ICD9:759.89|OMIM:164180|ICD10:Q87.8|GARD:0000106	gard_rare|ordo_malformation_syndrome	oculocerebrocutaneous syndrome|orbital cyst with cerebral and focal dermal malformations|oculo-cerebro-cutaneous syndrome|Delleman-Oorthuys syndrome|Leichtman-Wood-Rohn syndrome|OCC syndrome|OCCS|Delleman Oorthuys syndrome|Delleman syndrome	http://purl.obolibrary.org/obo/MONDO_0008108	Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations.	ORPHA:1647|http://identifiers.org/omim/164180|SNOMEDCT:403554008|UMLS:C0796092|MESH:C538088
MONDO:0008105	nose, anomalous shape of	biolink:Disease	mondo	GARD:0010040|MESH:C538354|OMIM:164000		nose, anomalous shape of|potato Nose	http://purl.obolibrary.org/obo/MONDO_0008105		http://identifiers.org/omim/164000|MESH:C538354
MONDO:0011735	hyper-IgM syndrome type 3	biolink:Disease	mondo	OMIM:606843|Orphanet:101090|GARD:0010579|ICD10:D80.5|DOID:0060023	gard_rare|ordo_clinical_subtype	type 3 hyper-IgM immunodeficiency|hyper-IgM syndrome due to CD40 deficiency|CD40 deficiency|immunodeficiency with hyper IgM type 3|HIGM3|immunodeficiency with hyper-IgM, type 3|CD40 hyper-IgM syndrome|immunodeficiency with hyper-IgM, type 3; HIGM3|hyper-IgM syndrome caused by mutation in CD40|hyper-IgM syndrome 3|immunodeficiency with hyper-IgM type 3|hyper IgM syndrome 3	http://purl.obolibrary.org/obo/MONDO_0011735	A form of Hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, Immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells.	ORPHA:101090|DOID:0060023|http://identifiers.org/omim/606843
CL:0000831	mast cell progenitor	biolink:Cell	mondo			colony forming unit mast cell|CFU-MC|CFU-Mast|MCP	http://purl.obolibrary.org/obo/CL_0000831	A progenitor cell of the mast cell lineage. Markers for this cell are FceRIa-low, CD117-positive, CD9-positive, T1/ST2-positive, SCA1-negative, and lineage-negative.	
MONDO:0008106	NYS2	biolink:Disease	mondo	MESH:C537854|GARD:0009599|OMIM:164100		NYSTAGMUS 2, congenital, autosomal dominant; NYS2|Nystagmus, congenital motor, 2|NYS2|Nystagmus congenital, motor 2|NYSTAGMUS 2, congenital, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008106		MESH:C537854|http://identifiers.org/omim/164100
MONDO:0011734	Cardioneuromyopathy with hyaline masses and nemaline rods	biolink:Disease	mondo	UMLS:C1847387|MESH:C564655|OMIM:606842		Cardioneuromyopathy with hyaline masses and nemaline rods	http://purl.obolibrary.org/obo/MONDO_0011734		UMLS:C1847387|http://identifiers.org/omim/606842|MESH:C564655
MONDO:0011737	PARK10	biolink:Disease	mondo	OMIM:606852|MESH:C564653|UMLS:C1847360		Parkinson disease 10; PARK10|Parkinson disease, Age at onset of|Parkinson disease 10|PARK10	http://purl.obolibrary.org/obo/MONDO_0011737		http://identifiers.org/omim/606852|MESH:C564653|UMLS:C1847360
MONDO:0008103	noduli Cutanei, multiple, with urinary tract abnormalities	biolink:Disease	mondo	UMLS:C1834143|OMIM:163850|MESH:C563512		noduli Cutanei, multiple, with urinary tract abnormalities	http://purl.obolibrary.org/obo/MONDO_0008103		MESH:C563512|http://identifiers.org/omim/163850|UMLS:C1834143
MONDO:0008104	Noonan syndrome 1	biolink:Disease	mondo	NCIT:C75459|GARD:0007223|DOID:0060578|OMIM:163950		Turner phenotype with normal karyotype|NS1|female pseudo-Turner syndrome|Noonan syndrome type 1|Noonan syndrome|Noonan syndrome 1|Male Turner syndrome|pterygium colli syndrome|Noonan syndrome 1; NS1	http://purl.obolibrary.org/obo/MONDO_0008104	Noonan syndrome caused by mutations in the PTPN11 gene.	DOID:0060578|http://identifiers.org/omim/163950|NCIT:C75459
MONDO:0011736	Cree mental retardation syndrome	biolink:Disease	mondo	OMIM:606851|MESH:C564654|UMLS:C1847361		Cree intellectual disability syndrome|Cree mental retardation syndrome	http://purl.obolibrary.org/obo/MONDO_0011736		MESH:C564654|UMLS:C1847361|http://identifiers.org/omim/606851
MONDO:0008101	familial supernumerary nipples	biolink:Disease	mondo	ICD10:Q83.3|OMIM:163700|Orphanet:2456	ordo_morphological_anomaly	accessory nipples|nipples, supernumerary|polymastia|isolated polythelia|polythelia, familial	http://purl.obolibrary.org/obo/MONDO_0008101	Familial supernumerary nipples is a rare breast malformation characterized by the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker nevus, renal or underlying breast tissue malignancy and genitourinary malformations has been reported.	http://identifiers.org/omim/163700|ORPHA:2456
MONDO:0011739	pancreatic cancer, susceptibility to, 1	biolink:Disease	mondo	OMIM:606856	predisposition	Pnca1|pancreatic cancer, susceptibility to, 1|PALLD familial pancreatic carcinoma|susceptibility to pancreatic cancer 1|pancreatic cancer, susceptibility to, type 1|familial pancreatic carcinoma caused by mutation in PALLD	http://purl.obolibrary.org/obo/MONDO_0011739	Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALLD gene.	http://identifiers.org/omim/606856
CL:0000835	myeloblast	biolink:Cell	mondo	BTO:0000187|FMA:83524			http://purl.obolibrary.org/obo/CL_0000835	The most primitive precursor in the granulocytic series, having fine, evenly distributed chromatin, several nucleoli, a high nuclear-to-cytoplasmic ration (5:1-7:1), and a nongranular basophilic cytoplasm. They reside in the bone marrow.	
MONDO:0008102	sick sinus syndrome 2, autosomal dominant	biolink:Disease	mondo	OMIM:163800|MESH:C563513|UMLS:C1834144		sinus node disease, familial, autosomal dominant|sick sinus syndrome caused by mutation in HCN4|atrial fibrillation with Bradyarrhythmia|sick sinus syndrome 2|HCN4 sick sinus syndrome|sick sinus syndrome 2 with or without Cardiac noncompaction and/Or ascending aorta dilation|Sss, autosomal dominant|sick sinus syndrome 2, autosomal dominant; SSS2|SSS2|sinus bradycardia syndrome, familial, autosomal dominant|sick sinus syndrome 2, autosomal dominant|sick sinus syndrome 2; SSS2	http://purl.obolibrary.org/obo/MONDO_0008102	Any sick sinus syndrome in which the cause of the disease is a mutation in the HCN4 gene.	MESH:C563513|http://identifiers.org/omim/163800|UMLS:C1834144
MONDO:0011738	bilateral frontoparietal polymicrogyria	biolink:Disease	mondo	ICD10:Q04.3|OMIM:606854|NCIT:C148367|Orphanet:101070|MESH:C564652|GARD:0010784|UMLS:C1847352	ordo_clinical_subtype|gard_rare	cerebellar ataxia with neuronal migration defect|BFPP|polymicrogyria, bilateral frontoparietal|polymicrogyria, bilateral frontoparietal; BFPP	http://purl.obolibrary.org/obo/MONDO_0011738	Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus.	http://identifiers.org/omim/606854|MESH:C564652|ORPHA:101070|UMLS:C1847352|NCIT:C148367
CL:0000837	hematopoietic multipotent progenitor cell	biolink:Cell	mondo	CALOHA:TS-0448|BTO:0000725		hemopoietic progenitor cell|MPP	http://purl.obolibrary.org/obo/CL_0000837	A hematopoietic multipotent progenitor cell is multipotent, but not capable of long-term self-renewal. These cells are characterized as lacking lineage cell surface markers and being CD34-positive in both mice and humans.	
CL:0000838	lymphoid lineage restricted progenitor cell	biolink:Cell	mondo	BTO:0004731|FMA:70338|CALOHA:TS-2025		lymphoid progenitor cell	http://purl.obolibrary.org/obo/CL_0000838	A progenitor cell restricted to the lymphoid lineage.	
MONDO:0008100	nipples inverted	biolink:Disease	mondo	OMIM:163600		Mammillae Invertitae|nipples inverted	http://purl.obolibrary.org/obo/MONDO_0008100		http://identifiers.org/omim/163600
MONDO:0011740	Carney-Stratakis syndrome	biolink:Disease	mondo	SCTID:722377004|Orphanet:97286|ICD10:D44.8|DOID:0080533|UMLS:C1847319|OMIM:606864|MESH:C564650|GARD:0010643|NCIT:C94831	ordo_disease	paraganglioma and gastric stromal sarcoma|Carney-Stratakis dyad of paraganglioma and gastric stromal sarcoma|gist-paraganglioma dyad|Carney-Stratakis dyad|paraganglioma and gist|Carney dyad|paraganglioma and gastrointestinal stromal tumor|Carney-Stratakis syndrome	http://purl.obolibrary.org/obo/MONDO_0011740	Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites.	UMLS:C1847319|SNOMEDCT:722377004|NCIT:C94831|DOID:0080533|ORPHA:97286|http://identifiers.org/omim/606864|MESH:C564650
MONDO:0011742	HSCR7	biolink:Disease	mondo	OMIM:606875	predisposition	Hirschsprung disease, susceptibility to, 7|HSCR7|Hirschsprung disease, susceptibility to, 7; HSCR7	http://purl.obolibrary.org/obo/MONDO_0011742		http://identifiers.org/omim/606875
CHEBI:17514	cyanide	biolink:ChemicalSubstance	mondo			CN-|CYANIDE ION|cyanide|Cyanide|Prussiate|CN(-)|Zyanid|nitridocarbonate(1-)	http://purl.obolibrary.org/obo/CHEBI_17514	A pseudohalide anion that is the conjugate base of hydrogen cyanide.	
MONDO:0011741	HSCR6	biolink:Disease	mondo	OMIM:606874	predisposition	Hirschsprung disease, susceptibility to, 6|HSCR6|Hirschsprung disease, susceptibility to, 6; HSCR6	http://purl.obolibrary.org/obo/MONDO_0011741		http://identifiers.org/omim/606874
MONDO:0011744	primary intraosseous venous malformation	biolink:Disease	mondo	Orphanet:140436|ICD10:D18.0|MESH:C564648|UMLS:C1847197|OMIM:606893|SCTID:764100007	ordo_disease	osseous venous malformation|hemangioma, intraosseous|vascular malformation, primary intraosseous|intraosseous hemangioma|vascular malformation osseous	http://purl.obolibrary.org/obo/MONDO_0011744	Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting.	UMLS:C1847197|ORPHA:140436|SNOMEDCT:764100007|http://identifiers.org/omim/606893|MESH:C564648
MONDO:0011743	Alzheimer disease 4	biolink:Disease	mondo	NCIT:C123413|OMIM:606889|DOID:0110040|UMLS:C1847200|MESH:C536596|GARD:0009469		Ad4|Alzheimer's disease 4|Alzheimer disease type 4|Alzheimer disease familial type 4|AD4|Alzheimer disease, familial4|Alzheimer's disease type 4|familial Alzheimer disease, type 4|Alzheimer disease, familial, 4|Alzheimer disease 4|familial Alzheimer's disease, type 4	http://purl.obolibrary.org/obo/MONDO_0011743	Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene.	UMLS:C1847200|NCIT:C123413|MESH:C536596|DOID:0110040|http://identifiers.org/omim/606889
GO:0005737	cytoplasm	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0005737	All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.	
GO:0005730	nucleolus	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0005730	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.	
CHEBI:136849	3-oxo-Delta(4)-steroid group	biolink:ChemicalSubstance	mondo			a 3-oxo-Delta4-steroid group	http://purl.obolibrary.org/obo/CHEBI_136849	An organic group derived from any 3-oxo-Delta(4)-steroid.	
UBERON:0007652	esophageal sphincter	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0007652	A sphincter that is part of an esophagus.	
UBERON:0007651	anatomical junction	biolink:AnatomicalEntity	mondo			junction|anatomical junction	http://purl.obolibrary.org/obo/UBERON_0007651	An anatomical structure that connects two structures	
UBERON:0007650	esophagogastric junction	biolink:AnatomicalEntity	mondo			esophageal sphincter|gastroesophageal junction|GEJ|squamocolumnar junction between esophagus and stomach|esophagogastric junction|cardioesophageal junction	http://purl.obolibrary.org/obo/UBERON_0007650	The junction between the esophagus and the stomach epithelium	
NCBITaxon:5234	Tremellales	organism taxon	mondo	PMID:17572334|GC_ID:1		jelly fungi	http://purl.obolibrary.org/obo/NCBITaxon_5234		
GO:0005739	mitochondrion	biolink:OntologyClass	mondo			mitochondria	http://purl.obolibrary.org/obo/GO_0005739	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.	
GO:0005747	mitochondrial respiratory chain complex I	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0005747	A protein complex located in the mitochondrial inner membrane that forms part of the mitochondrial respiratory chain. It contains about 25 different polypeptide subunits, including NADH dehydrogenase (ubiquinone), flavin mononucleotide and several different iron-sulfur clusters containing non-heme iron. The iron undergoes oxidation-reduction between Fe(II) and Fe(III), and catalyzes proton translocation linked to the oxidation of NADH by ubiquinone.	
GO:0005746	mitochondrial respirasome	biolink:OntologyClass	mondo			mitochondrial respirasome|mitochondrial electron transport chain|mitochondrial respiratory supercomplex|mitochondrial respiratory chain supercomplex|mitochondrial respiratory chain	http://purl.obolibrary.org/obo/GO_0005746	The protein complexes that form the mitochondrial electron transport system (the respiratory chain), associated with the inner mitochondrial membrane. The respiratory chain complexes transfer electrons from an electron donor to an electron acceptor and are associated with a proton pump to create a transmembrane electrochemical gradient.	
GO:0005743	mitochondrial inner membrane	biolink:OntologyClass	mondo			inner mitochondrion membrane|mitochondrion inner membrane|inner mitochondrial membrane	http://purl.obolibrary.org/obo/GO_0005743	The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae.	
NCBITaxon:7898	Actinopterygii	organism taxon	mondo	GC_ID:1		ray-finned fishes|bony fishes|fish|Actinopterygi|Osteichthyes|fishes	http://purl.obolibrary.org/obo/NCBITaxon_7898		
GO:0005740	mitochondrial envelope	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0005740	The double lipid bilayer enclosing the mitochondrion and separating its contents from the cell cytoplasm; includes the intermembrane space.	
CHEBI:136859	pro-agent	biolink:ChemicalSubstance	mondo			pro-agents|proagents|proagent	http://purl.obolibrary.org/obo/CHEBI_136859	A compound that, on administration, undergoes conversion by biochemical (enzymatic), chemical (possibly following an enzymatic step), or physical (e.g. photochemical) activation processes before becoming the active agent for which it is a pro-agent.	
UBERON:0007641	trigeminal nuclear complex	biolink:AnatomicalEntity	mondo			trigeminal nuclei|nuclei trigemini	http://purl.obolibrary.org/obo/UBERON_0007641	The sensory trigeminal nerve nuclei are the largest of the cranial nerve nuclei, and extend through the whole of the midbrain, pons and medulla. There is also a distinct trigeminal motor nucleus that is medial to the chief sensory nucleus[WP].	
CHEBI:78433	refrigerant	biolink:ChemicalSubstance	mondo			refrigerants	http://purl.obolibrary.org/obo/CHEBI_78433	A substance used in a thermodynamic heat pump cycle or refrigeration cycle that undergoes a phase change from a gas to a liquid and back. Refrigerants are used in air-conditioning systems and freezers or refrigerators and are assigned a "R" number (by ASHRAE - formerly the American Society of Heating, Refrigerating and Air Conditioning Engineers), which is determined systematically according to their molecular structure.	
UBERON:0007647	ectomeninx	biolink:AnatomicalEntity	mondo			future dura mater	http://purl.obolibrary.org/obo/UBERON_0007647	The outermost layer of the mesenchymal capsule that surrounds the developing brain, of mixed paraxial mesoderm and neural crest origin. The ectomeninx forms the dura mater (both inner layer and outer chondrogenic layer).	
UBERON:0007646	endomeninx	biolink:AnatomicalEntity	mondo			future leptomeninges|future leptomeninx	http://purl.obolibrary.org/obo/UBERON_0007646	The innermost layer of the mesenchymal capsule that surrounds the developing brain, primarily of neural crest origin. The endomeninx forms the leptomeninx.	
UBERON:0007645	future meninx	biolink:AnatomicalEntity	mondo			primordial meninx|primary meninx|meninx primitiva|primitive meninx	http://purl.obolibrary.org/obo/UBERON_0007645	A developing mesenchymal capsule that covers the developing brain and spinal cord and is the precursor of the meningeal cluster. In mammals this gives rise to the arachnoid mater, pia mater and dura mater. In cyclostomes and fishes, the future meninx gives rise to a single meningeal layer, the primitive meninx.	
UBERON:0007644	thoracic lymph node	biolink:AnatomicalEntity	mondo			deep thoracic lymph node|lymph node of thorax	http://purl.obolibrary.org/obo/UBERON_0007644	A lymph node that is part of a thorax. Includes lymph nodes of the lungs and mediastinal lymph nodes	
NCBITaxon:5206	Cryptococcus <basidiomycetes>	organism taxon	mondo	GC_ID:1		Cryptococcus|Filobasidiella	http://purl.obolibrary.org/obo/NCBITaxon_5206		
NCBITaxon:5207	Cryptococcus neoformans	organism taxon	mondo	GC_ID:1		Lipomyces neoformans|Filobasidiella neoformans|Debaryomyces neoformans|Blastomyces neoformans|Torulopsis neoformans|Saccharomyces neoformans|Torula neoformans	http://purl.obolibrary.org/obo/NCBITaxon_5207		
NCBITaxon:5204	Basidiomycota	organism taxon	mondo	GC_ID:1		basidiomycetes|basidiomycetes	http://purl.obolibrary.org/obo/NCBITaxon_5204		
HP:0000297	Facial hypotonia	biolink:PhenotypicFeature	mondo	UMLS:C1845251|UMLS:C4280646		Hypotonic facies|Atony of facial musculature|Low facial muscle tone|Decreased facial muscle tone|Reduced facial muscle tone	http://purl.obolibrary.org/obo/HP_0000297	Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).	
HP:0000290	Abnormality of the forehead	biolink:PhenotypicFeature	mondo	UMLS:C4025867	hposlim_core	Abnormality of the forehead|Abnormality of the frontal region of the face|Malformation of the forehead|Deformity of the forehead|Anomaly of the forehead	http://purl.obolibrary.org/obo/HP_0000290	An anomaly of the forehead.	
UBERON:0007635	nucleus of medulla oblongata	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0007635	A neural nucleus that is part of a medulla oblongata.	
GO:0005719		biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0005719		
GO:0005724	obsolete nuclear telomeric heterochromatin	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0005724	OBSOLETE. Heterochromatic regions of the chromosome found at the telomeres of a chromosome in the nucleus.	
UBERON:0007619	limiting membrane of retina	biolink:AnatomicalEntity	mondo			retina lamina	http://purl.obolibrary.org/obo/UBERON_0007619		
GO:0005720		biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0005720		
GO:0042713	sperm ejaculation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0042713	The expulsion of seminal fluid, thick white fluid containing spermatozoa, from the male genital tract.	
UBERON:0007625	pigment epithelium of eye	biolink:AnatomicalEntity	mondo			eye pigment epithelium	http://purl.obolibrary.org/obo/UBERON_0007625	epithelial layer of the retina, ciliary body, or iris composed of cells containing pigment granules.	
MONDO:0011809	obsolete mammographic density	biolink:Disease	mondo	OMIM:607308|MESH:C564595		mammographic density	http://purl.obolibrary.org/obo/MONDO_0011809		http://identifiers.org/omim/607308|MESH:C564595
MONDO:0011808	cataract 27	biolink:Disease	mondo	ICD10:Q12.0|UMLS:C1846520|MESH:C564596|OMIM:607304|DOID:0110233		cataract type 27|cataract 27|cataract 27; CTRCT27|CTRCT27|cataract 27 nuclear progressive|cataract 27, nuclear progressive|Ccnp	http://purl.obolibrary.org/obo/MONDO_0011808	A cataract that has material basis in mutation in the region 2p12.	UMLS:C1846520|http://identifiers.org/omim/607304|DOID:0110233|MESH:C564596
MONDO:0011801	spinocerebellar ataxia type 1 with axonal neuropathy	biolink:Disease	mondo	DOID:0090115|SCTID:765091006|Orphanet:94124|ICD10:G60.2|UMLS:C1846574|MESH:C537313|OMIM:607250|GARD:10000|GARD:0010000	ordo_disease	SCAN1|spinocerebellar ataxia, autosomal recessive, with axonal neuropathy; SCAN1|spinocerebellar ataxia with axonal neuropathy type 1|spinocerebellar ataxia, autosomal recessive, with axonal neuropathy|spinocerebellar ataxia with axonal neuropathy|spinocerebellar ataxia autosomal recessive with axonal neuropathy|autosomal recessive spinocerebellar ataxia with axonal neuropathy	http://purl.obolibrary.org/obo/MONDO_0011801	Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.	UMLS:C1846574|MESH:C537313|http://identifiers.org/omim/607250|DOID:0090115|SNOMEDCT:765091006|ORPHA:94124
MONDO:0011800	GLM4	biolink:Disease	mondo	OMIM:607248|UMLS:C2750944		GLM4|glioma susceptibility 4; GLM4|glioma susceptibility 4	http://purl.obolibrary.org/obo/MONDO_0011800		http://identifiers.org/omim/607248|UMLS:C2750944
MONDO:0011803	hereditary spastic paraplegia 7	biolink:Disease	mondo	Orphanet:99013|OMIM:607259|DOID:0110816|GARD:0004927|ICD10:G11.4|UMLS:C1846564|UMLS:C3711370|SCTID:715776003	ordo_disease	spastic paraplegia 7, autosomal recessive|spastic paraplegia type 7|SPG7|spastic paraplegia 7|hereditary spastic paraplegia type 7|spastic paraplegia 7, autosomal recessive; SPG7|hereditary spastic paraplegia caused by mutation in SPG7|SPG7 hereditary spastic paraplegia|autosomal recessive spastic paraplegia 7|hereditary spastic paraplegia paraplegin type	http://purl.obolibrary.org/obo/MONDO_0011803	Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia.	UMLS:C1846564|ORPHA:99013|http://identifiers.org/omim/607259|UMLS:C3711370|DOID:0110816|SNOMEDCT:715776003
MONDO:0011802	hypercalciuria, absorptive, 1	biolink:Disease	mondo	MESH:C564600|OMIM:607258|UMLS:C1846573		hypercalciuria, absorptive, type 1|hypercalciuria, absorptive, 1|Hca1	http://purl.obolibrary.org/obo/MONDO_0011802		UMLS:C1846573|http://identifiers.org/omim/607258|MESH:C564600
MONDO:0011805	asthma-related traits, susceptibility to, 1	biolink:Disease	mondo	UMLS:C1846534|OMIM:607277	predisposition	asthma-related traits, susceptibility to, type 1|asthma-related traits, susceptibility to, 1|AS1|ASRT1|PTGDR inherited susceptibility to asthma|inherited susceptibility to asthma caused by mutation in PTGDR	http://purl.obolibrary.org/obo/MONDO_0011805	Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the PTGDR gene.	UMLS:C1846534|http://identifiers.org/omim/607277
MONDO:0011804	autoimmune lymphoproliferative syndrome type 2B	biolink:Disease	mondo	Orphanet:275517|OMIM:607271|SCTID:722290008|DOID:0110116|ICD10:D47.9|GARD:0009796	ordo_disease	caspase-8 deficiency|CEDS|autoimmune lymphoproliferative syndrome with recurrent viral infections|CASP8 autoimmune lymphoproliferative syndrome|caspase eight deficiency state|autoimmune lymphoproliferative syndrome type IIB|caspase 8 deficiency|autoimmune lymphoproliferative syndrome caused by mutation in CASP8|autoimmune lymphoproliferative syndrome, type 2B|ALPS2B|Ceds|ALPS with recurrent viral infections|caspase 8 deficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0011804	Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.	http://identifiers.org/omim/607271|SNOMEDCT:722290008|DOID:0110116|ORPHA:275517
MONDO:0011807	systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1	biolink:Disease	mondo	OMIM:607279	predisposition	systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1; SLEH1|systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1|systemic lupus erythematosus, hemolytic Anemia-related|SLEH1	http://purl.obolibrary.org/obo/MONDO_0011807		http://identifiers.org/omim/607279
MONDO:0011806	osteofibrous dysplasia	biolink:Disease	mondo	MESH:C563787|UMLS:C1836723|OMIM:609143|NCIT:C53970|UMLS:C1709353|MESH:C563276|Orphanet:488265|OMIM:607278	ordo_disease	OFD|Kempson-Campanacci lesion|osteofibrous dysplasia, susceptibility to|ossifying fibroma of long bones|tibia, bowing of, with pseudarthrosis and pectus excavatum|OSFD|cortical fibrous dysplasia|osteofibrous dysplasia of bone|osteofibrous dysplasia	http://purl.obolibrary.org/obo/MONDO_0011806	A benign, usually self-limited fibro-osseous lesion of the bone that affects infants and children. It usually arises from the cortical bone of the anterior mid-shaft of the tibia. Patients usually present with swelling or painless bowing of the tibia. Progression to adamantinoma has been reported in some cases.	UMLS:C1709353|http://identifiers.org/omim/609143|NCIT:C53970|http://identifiers.org/omim/607278|ORPHA:488265|MESH:C563276|MESH:C563787|UMLS:C1836723
UBERON:0005034	mucosa of right main bronchus	biolink:AnatomicalEntity	mondo			right bronchus mucous membrane|mucosa of organ of right principal bronchus|right main bronchus mucous membrane|mucosa of organ of right main bronchus|mucosa of organ of right bronchus|right main bronchial mucosa|mucosa of right principal bronchus|mucous membrane of right principal bronchus|organ mucosa of right principal bronchus|mucosa of right bronchus|mucous membrane of right bronchus|organ mucosa of right bronchus|right principal bronchus mucosa of organ|right main bronchus mucosa|right main bronchus organ mucosa|right bronchus mucosa of organ|right bronchus mucosa|mucous membrane of right main bronchus|right main bronchus mucosa of organ|right bronchus organ mucosa|organ mucosa of right main bronchus|right principal bronchus mucosa|right principal bronchus mucous membrane|right principal bronchus organ mucosa	http://purl.obolibrary.org/obo/UBERON_0005034	A mucosa that is part of a right main bronchus [Automatically generated definition].	
UBERON:0005035	mucosa of left main bronchus	biolink:AnatomicalEntity	mondo			left bronchus mucosa|left bronchus organ mucosa|left main bronchus mucosa of organ|left principal bronchus mucosa|left principal bronchus organ mucosa|organ mucosa of left principal bronchus|mucous membrane of left principal bronchus|left principal bronchus mucosa of organ|left main bronchus mucosa|mucosa of left principal bronchus|organ mucosa of left bronchus|mucous membrane of left bronchus|left main bronchus mucous membrane|left bronchus mucosa of organ|left main bronchus organ mucosa|mucosa of left bronchus|left main bronchial mucosa|mucosa of organ of left main bronchus|mucosa of organ of left principal bronchus|left principal bronchus mucous membrane|mucosa of organ of left bronchus|left bronchus mucous membrane|organ mucosa of left main bronchus|mucous membrane of left main bronchus	http://purl.obolibrary.org/obo/UBERON_0005035	A mucosa that is part of a left main bronchus [Automatically generated definition].	
UBERON:0005032	mucosa of lower lip	biolink:AnatomicalEntity	mondo			lower lip mucous membrane|mucosa of organ of lower lip|lower lip mucosa|lower lip organ mucosa|lower labial mucosa|lower lip mucosa of organ|mucous membrane of lower lip|organ mucosa of lower lip	http://purl.obolibrary.org/obo/UBERON_0005032	A mucosa that is part of a lower lip [Automatically generated definition].	
UBERON:0005033	mucosa of gallbladder	biolink:AnatomicalEntity	mondo			gallbladder organ mucosa|tunica mucosa vesicae biliaris|gall bladder mucosa|gall bladder mucosa of organ|gall bladder organ mucosa|organ mucosa of gallbladder|gallbladder mucosa of organ|mucous membrane of gallbladder|gall bladder mucous membrane|tunica mucosa (vesica biliaris)|mucosa of organ of gall bladder|mucosa of organ of gallbladder|gallbladder mucous membrane|mucosa of gall bladder|organ mucosa of gall bladder|gallbladder mucosa|mucous membrane of gall bladder	http://purl.obolibrary.org/obo/UBERON_0005033	A mucosa that is part of a gallbladder [Automatically generated definition].	
UBERON:0005030	mucosa of paranasal sinus	biolink:AnatomicalEntity	mondo			paranasal sinus mucosa	http://purl.obolibrary.org/obo/UBERON_0005030	A mucosa that adjacent_to a paranasal sinus.	
UBERON:0005031	mucosa of upper lip	biolink:AnatomicalEntity	mondo			upper lip mucous membrane|mucosa of organ of upper lip|upper lip mucosa|upper labial mucosa|upper lip organ mucosa|organ mucosa of upper lip|upper lip mucosa of organ|mucous membrane of upper lip	http://purl.obolibrary.org/obo/UBERON_0005031	A mucosa that is part of a upper lip [Automatically generated definition].	
UBERON:0007692	nucleus of thalamus	biolink:AnatomicalEntity	mondo			nuclear complex of thalamus|thalamic nucleus	http://purl.obolibrary.org/obo/UBERON_0007692	A nucleus of brain that is part of a thalamus.	
UBERON:0007691	gustatory pore	biolink:AnatomicalEntity	mondo			porus gustatorius|taste pore	http://purl.obolibrary.org/obo/UBERON_0007691	The minute opening of a taste bud on the surface of the oral mucosa through which the gustatory hairs of the specialised neuroepithelial gustatory cells project.	
MONDO:0011810	horizontal gaze palsy with progressive scoliosis	biolink:Disease	mondo	Orphanet:2744|ICD10:H49.4|UMLS:C1846496|MESH:C564593|GARD:0012682|OMIMPS:607313|ICD9:737.43|SCTID:702381007	ordo_disease|prototype_pattern|gard_rare	gaze palsy, familial horizontal, with progressive scoliosis; HGPPS|gaze palsy, familial horizontal, with progressive scoliosis|HGPPS|progressive external ophthalmoplegia and scoliosis|gaze palsy, horizontal, with progressive scoliosis|ophthalmoplegia, progressive external, and scoliosis	http://purl.obolibrary.org/obo/MONDO_0011810	Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla.	ORPHA:2744|http://identifiers.org/omim/607313|MESH:C564593|SNOMEDCT:702381007|UMLS:C1846496
UBERON:0007690	early pharyngeal endoderm	biolink:AnatomicalEntity	mondo			pharyngeal endoderm|pharyngeal region endoderm|early pharyngeal arch endoderm|pharyngeal arch endoderm	http://purl.obolibrary.org/obo/UBERON_0007690	.	
ENVO:09000019	concentration of chloride in water	biolink:OntologyClass	mondo			water chloride concentration	http://purl.obolibrary.org/obo/ENVO_09000019	The concentration of a chloride when measured in water.	
ENVO:09000017	concentration of nitrogen atom in soil	biolink:OntologyClass	mondo			soil nitrogen atom concentration	http://purl.obolibrary.org/obo/ENVO_09000017	The concentration of a nitrogen atom when measured in soil.	
ENVO:09000018	concentration of nitrogen atom in water	biolink:OntologyClass	mondo			water nitrogen atom concentration	http://purl.obolibrary.org/obo/ENVO_09000018	The concentration of a nitrogen atom when measured in water.	
ENVO:09000015	amount of nitrogen atom in water	biolink:OntologyClass	mondo			water nitrogen atom amount	http://purl.obolibrary.org/obo/ENVO_09000015	The amount of a nitrogen atom when measured in water.	
UBERON:0005038	mucosa of segmental bronchus	biolink:AnatomicalEntity	mondo			mucous membrane of tertiary bronchus|tertiary bronchus mucosa of organ|organ mucosa of tertiary bronchus|segmental bronchus mucous membrane|mucosa of tertiary bronchus|segmental bronchial mucosa|mucosa of organ of segmental bronchus|tertiary bronchus mucosa|tertiary bronchus mucous membrane|tertiary bronchus organ mucosa|mucosa of organ of tertiary bronchus|segmental bronchus mucosa|mucous membrane of segmental bronchus|organ mucosa of segmental bronchus|segmental bronchus organ mucosa|segmental bronchus mucosa of organ	http://purl.obolibrary.org/obo/UBERON_0005038	A mucosa that is part of a segmental bronchus [Automatically generated definition].	
UBERON:0005039	mucosa of bronchiole	biolink:AnatomicalEntity	mondo			bronchiole mucosa of organ|mucosa of lobular bronchiole|lobular bronchiole mucosa|mucous membrane of lobular bronchiole|organ mucosa of lobular bronchiole|lobular bronchiole organ mucosa|bronchiole mucous membrane|lobular bronchiole mucosa of organ|mucosa of organ of bronchiole|bronchiole mucosa|bronchiole organ mucosa|mucous membrane of bronchiole|lobular bronchiole mucous membrane|organ mucosa of bronchiole|mucosa of organ of lobular bronchiole	http://purl.obolibrary.org/obo/UBERON_0005039	A mucosa that is part of a bronchiole [Automatically generated definition].	
ENVO:09000016	concentration of nitrogen atom in environmental material	biolink:OntologyClass	mondo			environmental material nitrogen atom concentration	http://purl.obolibrary.org/obo/ENVO_09000016	The concentration of a nitrogen atom when measured in environmental material.	
UBERON:0005036	mucosa of main bronchus	biolink:AnatomicalEntity	mondo			mucosa of organ of bronchus principalis|main bronchus mucosa|main bronchial mucosa|bronchus principalis mucosa|main bronchus organ mucosa|bronchus principalis organ mucosa|primary bronchus mucosa of organ|mucosa of bronchus principalis|principal bronchus mucous membrane|organ mucosa of bronchus principalis|mucous membrane of bronchus principalis|mucosa of organ of principal bronchus|primary bronchus mucosa|primary bronchus mucous membrane|primary bronchus organ mucosa|bronchus principalis mucosa of organ|main bronchus mucosa of organ|organ mucosa of main bronchus|mucosa of organ of primary bronchus|mucosa of principal bronchus|mucous membrane of main bronchus|organ mucosa of principal bronchus|mucous membrane of principal bronchus|principal bronchus mucosa|principal bronchus organ mucosa|mucosa of primary bronchus|bronchus principalis mucous membrane|main bronchus mucous membrane|organ mucosa of primary bronchus|mucosa of organ of main bronchus|principal bronchus mucosa of organ|mucous membrane of primary bronchus	http://purl.obolibrary.org/obo/UBERON_0005036	A mucosa that is part of a main bronchus [Automatically generated definition].	
UBERON:0007699	tract of spinal cord	biolink:AnatomicalEntity	mondo			spinal cord tract	http://purl.obolibrary.org/obo/UBERON_0007699	An axon tract that is part of a spinal cord.	
ENVO:09000013	amount of nitrogen atom in environmental material	biolink:OntologyClass	mondo			environmental material nitrogen atom amount	http://purl.obolibrary.org/obo/ENVO_09000013	The amount of a nitrogen atom when measured in environmental material.	
ENVO:09000014	amount of nitrogen atom in soil	biolink:OntologyClass	mondo			soil nitrogen atom amount	http://purl.obolibrary.org/obo/ENVO_09000014	The amount of a nitrogen atom when measured in soil.	
UBERON:0005037	mucosa of lobar bronchus	biolink:AnatomicalEntity	mondo			mucosa of secondary bronchus|lobar bronchus mucosa of organ|organ mucosa of secondary bronchus|mucous membrane of secondary bronchus|secondary bronchus mucosa|secondary bronchus mucosa of organ|lobar bronchus mucous membrane|secondary bronchus organ mucosa|lobar bronchial mucosa|mucosa of organ of lobar bronchus|lobar bronchus mucosa|lobar bronchus organ mucosa|secondary bronchus mucous membrane|mucosa of organ of secondary bronchus|organ mucosa of lobar bronchus|mucous membrane of lobar bronchus	http://purl.obolibrary.org/obo/UBERON_0005037	A mucosa that is part of a lobar bronchus [Automatically generated definition].	
UBERON:0005023	mucosa of oropharynx	biolink:AnatomicalEntity	mondo			organ mucosa of oropharynx|mucous membrane of oropharynx|mucosa of oral part of pharynx|oral part of pharynx mucosa|mucous membrane of oral part of pharynx|organ mucosa of oral part of pharynx|oral part of pharynx organ mucosa|oropharynx mucosa of organ|oropharynx mucosa|oropharynx organ mucosa|oral part of pharynx mucosa of organ|oropharynx mucous membrane|mucosa of organ of oropharynx|oral part of pharynx mucous membrane|mucosa of organ of oral part of pharynx	http://purl.obolibrary.org/obo/UBERON_0005023	A mucosa that is part of a oropharynx [Automatically generated definition].	
UBERON:0007685	region of nephron tubule	biolink:AnatomicalEntity	mondo			region of renal tubule|renal tubule region	http://purl.obolibrary.org/obo/UBERON_0007685		
UBERON:0005024	mucosa of soft palate	biolink:AnatomicalEntity	mondo			soft palate mucosa|soft palate organ mucosa|soft palate mucosa of organ|mucous membrane of soft palate|organ mucosa of soft palate|mucosa of organ of soft palate|soft palate mucous membrane	http://purl.obolibrary.org/obo/UBERON_0005024	A mucosa that is part of a soft palate [Automatically generated definition].	
UBERON:0005021	mucosa of sphenoidal sinus	biolink:AnatomicalEntity	mondo			sphenoidal sinus mucous membrane|mucosa of sphenoid sinus|mucous membrane of sphenoid sinus|organ mucosa of sphenoid sinus|mucosa of organ of sphenoidal sinus|sphenoid sinus mucosa|sphenoid sinus organ mucosa|sphenoid sinus mucosa of organ|organ mucosa of sphenoidal sinus|mucous membrane of sphenoidal sinus|sphenoidal sinus mucosa of organ|sphenoid sinus mucous membrane|sphenoidal sinus mucosa|mucosa of organ of sphenoid sinus|sphenoidal sinus organ mucosa	http://purl.obolibrary.org/obo/UBERON_0005021	A mucosa that is part of a sphenoidal sinus [Automatically generated definition].	
UBERON:0007684	uriniferous tubule	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0007684	functional unit of the kidney that forms urine, consisting of two parts, the nephron and the collecting tubule.	
UBERON:0005022	mucosa of nasopharynx	biolink:AnatomicalEntity	mondo			nasal part of pharynx mucosa|nasal part of pharynx organ mucosa|nasopharynx mucosa|rhinopharynx mucous membrane|nasopharynx organ mucosa|mucosa of organ of rhinopharynx|nasopharynx mucosa of organ|organ mucosa of nasopharynx|mucous membrane of nasopharynx|mucosa of rhinopharynx|organ mucosa of rhinopharynx|mucous membrane of rhinopharynx|nasal part of pharynx mucosa of organ|organ mucosa of nasal part of pharynx|mucous membrane of nasal part of pharynx|mucosa of nasal part of pharynx|mucosa of organ of nasopharynx|rhinopharynx mucosa|nasopharynx mucous membrane|rhinopharynx mucosa of organ|rhinopharynx organ mucosa|mucosa of organ of nasal part of pharynx|nasal part of pharynx mucous membrane	http://purl.obolibrary.org/obo/UBERON_0005022	A mucosa that is part of a nasopharynx [Automatically generated definition].	
GO:0042737	drug catabolic process	biolink:OntologyClass	mondo			drug degradation|drug breakdown|drug catabolism	http://purl.obolibrary.org/obo/GO_0042737	The chemical reactions and pathways resulting in the breakdown of a drug, a substance used in the diagnosis, treatment or prevention of a disease.	
UBERON:0005020	mucosa of tongue	biolink:AnatomicalEntity	mondo			lingual mucosa|tongue mucous membrane|mucosa of organ of tongue|mucous membrane of tongue|tongue mucosa|organ mucosa of tongue|tongue organ mucosa|tunica mucosa linguae|tongue mucosa of organ	http://purl.obolibrary.org/obo/UBERON_0005020	A mucosa that is part of a tongue [Automatically generated definition].	
ENVO:09000008	concentration of carbon atom in soil	biolink:OntologyClass	mondo			soil carbon atom concentration	http://purl.obolibrary.org/obo/ENVO_09000008	The concentration of a carbon atom when measured in soil.	
ENVO:09000009	concentration of carbon atom in water	biolink:OntologyClass	mondo			water carbon atom concentration	http://purl.obolibrary.org/obo/ENVO_09000009	The concentration of a carbon atom when measured in water.	
UBERON:0005029	mucosa of lacrimal canaliculus	biolink:AnatomicalEntity	mondo			mucosa of organ of lacrimal canaliculus|organ mucosa of lacrimal canaliculus|mucous membrane of lacrimal canaliculus|lacrimal canaliculus mucosa|lacrimal canaliculus organ mucosa|lacrimal canaliculus mucosa of organ|lacrimal canalicular mucosa|lacrimal canaliculus mucous membrane	http://purl.obolibrary.org/obo/UBERON_0005029	A mucosa that is part of a lacrimal canaliculus [Automatically generated definition].	
ENVO:09000006	amount of carbon atom in water	biolink:OntologyClass	mondo			water carbon atom amount	http://purl.obolibrary.org/obo/ENVO_09000006	The amount of a carbon atom when measured in water.	
ENVO:09000007	concentration of carbon atom in environmental material	biolink:OntologyClass	mondo			environmental material carbon atom concentration	http://purl.obolibrary.org/obo/ENVO_09000007	The concentration of a carbon atom when measured in environmental material.	
HGNC:3214	EEF2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3214		
UBERON:0005027	mucosa of frontal sinus	biolink:AnatomicalEntity	mondo			mucosa of organ of frontal sinus|frontal sinus mucous membrane|frontal sinus mucosa|frontal sinus organ mucosa|mucous membrane of frontal sinus|organ mucosa of frontal sinus|frontal sinus mucosa of organ	http://purl.obolibrary.org/obo/UBERON_0005027	A mucosa that is part of a frontal sinus [Automatically generated definition].	
ENVO:09000004	amount of carbon atom in environmental material	biolink:OntologyClass	mondo			environmental material carbon atom amount	http://purl.obolibrary.org/obo/ENVO_09000004	The amount of a carbon atom when measured in environmental material.	
UBERON:0005028	mucosa of maxillary sinus	biolink:AnatomicalEntity	mondo			maxillary sinus mucous membrane|mucosa of organ of maxillary sinus|antrum of highmore mucosa of organ|maxillary sinus mucosa|maxillary sinus organ mucosa|antrum of highmore mucous membrane|mucosa of organ of antrum of highmore|mucous membrane of maxillary sinus|organ mucosa of maxillary sinus|maxillary sinus mucosa of organ|antrum of highmore mucosa|mucosa of antrum of highmore|antrum of highmore organ mucosa|mucous membrane of antrum of highmore|organ mucosa of antrum of highmore	http://purl.obolibrary.org/obo/UBERON_0005028	A mucosa that is part of a maxillary sinus [Automatically generated definition].	
UBERON:0007689	thyroid diverticulum	biolink:AnatomicalEntity	mondo			saccus thyroideus|diverticulum thyroideum	http://purl.obolibrary.org/obo/UBERON_0007689	endodermal bud derived from the endodermal epithelium of the embryonic pharyngeal floor[MP]. The thyroid diverticulum is the embryological structure from which thyroid follicular cells derive. It grows from the floor of the pharnyx[WP].	
ENVO:09000005	amount of carbon atom in soil	biolink:OntologyClass	mondo			soil carbon atom amount	http://purl.obolibrary.org/obo/ENVO_09000005	The amount of a carbon atom when measured in soil.	
UBERON:0005025	mucosa of uvula	biolink:AnatomicalEntity	mondo			uvula mucosa	http://purl.obolibrary.org/obo/UBERON_0005025	A mucosa that is part of a uvula [Automatically generated definition].	
UBERON:0007688	anlage	biolink:AnatomicalEntity	mondo			organ field|developmental field|future organ|field	http://purl.obolibrary.org/obo/UBERON_0007688	Anlagen are populations of contiguous cells, typically arranged in one plane, that are morphologically indistinct, but that already correspond in extent to a later organ/tissue.	
HGNC:5870	IGLL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5870		
UBERON:0005026	mucosa of middle ear	biolink:AnatomicalEntity	mondo			mucosa of organ of middle ear|middle ear mucosa|middle ear organ mucosa|organ mucosa of middle ear|mucous membrane of middle ear|middle ear mucosa of organ|mucosa of tympanic cavity|middle ear mucous membrane|tunica mucosa cavitatis tympanicae	http://purl.obolibrary.org/obo/UBERON_0005026	A mucosa that is part of a middle ear [Automatically generated definition].	
UBERON:0007687	kidney field	biolink:AnatomicalEntity	mondo			kidney anlage	http://purl.obolibrary.org/obo/UBERON_0007687	region of the embryo into the area in which the kidney rudiment will develop.	
HGNC:3219	EFEMP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3219		
HGNC:3218	EFEMP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3218		
HGNC:22197	AP5Z1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/22197		
GO:0042747	circadian sleep/wake cycle, REM sleep	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0042747	A stage in the circadian sleep cycle during which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity.	
UBERON:0005012	mucosa of left uterine tube	biolink:AnatomicalEntity	mondo			left uterine tube mucous membrane|mucosa of organ of left oviduct|mucosa of organ of left uterine tube|mucous membrane of left fallopian tube|left uterine tube mucosa|left fallopian tube mucosa of organ|organ mucosa of left fallopian tube|left uterine tube organ mucosa|mucosa of left fallopian tube|left oviduct mucosa|mucosa of left oviduct|left oviduct organ mucosa|mucous membrane of left oviduct|organ mucosa of left oviduct|mucosa of organ of left fallopian tube|left fallopian tube mucous membrane|left oviduct mucosa of organ|left fallopian tube mucosa|left uterine tube mucosa of organ|organ mucosa of left uterine tube|mucous membrane of left uterine tube|left fallopian tube organ mucosa|left oviduct mucous membrane	http://purl.obolibrary.org/obo/UBERON_0005012	A mucosa that is part of a left uterine tube [Automatically generated definition].	
UBERON:0005013	mucosa of male urethra	biolink:AnatomicalEntity	mondo			male urethra mucosa|male urethra organ mucosa|male urethra mucous membrane|mucosa of organ of male urethra|mucous membrane of male urethra|organ mucosa of male urethra|male urethra mucosa of organ	http://purl.obolibrary.org/obo/UBERON_0005013	A mucosa that is part of a male urethra [Automatically generated definition].	
UBERON:0005010	mucosa of neck of urinary bladder	biolink:AnatomicalEntity	mondo			mucosa of organ of bladder neck|mucous membrane of neck of urinary bladder|organ mucosa of neck of urinary bladder|neck of urinary bladder mucosa of organ|vesical neck mucous membrane|bladder neck mucosa|urinary bladder neck mucous membrane|neck of bladder mucosa|mucosa of bladder neck|bladder neck organ mucosa|mucosa of organ of vesical neck|organ mucosa of bladder neck|neck of bladder organ mucosa|mucous membrane of bladder neck|mucosa of organ of urinary bladder neck|mucosa of organ of neck of urinary bladder|neck of urinary bladder mucous membrane|neck of bladder mucosa of organ|organ mucosa of neck of bladder|mucous membrane of neck of bladder|mucosa of neck of bladder|bladder neck mucosa of organ|mucosa of vesical neck|neck of urinary bladder mucosa|organ mucosa of vesical neck|mucosa of urinary bladder neck|mucous membrane of vesical neck|neck of urinary bladder organ mucosa|mucous membrane of urinary bladder neck|organ mucosa of urinary bladder neck|neck of bladder mucous membrane|urinary bladder neck mucosa|mucosa of organ of neck of bladder|bladder neck mucous membrane|vesical neck mucosa of organ|vesical neck mucosa|urinary bladder neck mucosa of organ|vesical neck organ mucosa	http://purl.obolibrary.org/obo/UBERON_0005010	A mucosa that is part of a neck of urinary bladder [Automatically generated definition].	
GO:0042749	regulation of circadian sleep/wake cycle	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0042749	Any process that modulates the frequency, rate or extent of the circadian sleep/wake cycle.	
UBERON:0005011	mucosa of right uterine tube	biolink:AnatomicalEntity	mondo			right uterine tube mucosa of organ|mucosa of right fallopian tube|organ mucosa of right fallopian tube|mucous membrane of right fallopian tube|organ mucosa of right oviduct|right oviduct mucosa of organ|mucous membrane of right oviduct|right uterine tube mucous membrane|mucosa of right oviduct|right fallopian tube mucosa|right fallopian tube mucosa of organ|right fallopian tube organ mucosa|mucosa of organ of right uterine tube|right oviduct mucosa|right oviduct organ mucosa|mucosa of organ of right oviduct|right oviduct mucous membrane|right fallopian tube mucous membrane|organ mucosa of right uterine tube|right uterine tube mucosa|mucous membrane of right uterine tube|mucosa of organ of right fallopian tube|right uterine tube organ mucosa	http://purl.obolibrary.org/obo/UBERON_0005011	A mucosa that is part of a right uterine tube [Automatically generated definition].	
GO:0042742	defense response to bacterium	biolink:OntologyClass	mondo			defense response to bacterium, incompatible interaction|defence response to bacterium|resistance response to pathogenic bacteria|defense response to bacteria|defence response to bacteria|resistance response to pathogenic bacterium|antibacterial peptide activity	http://purl.obolibrary.org/obo/GO_0042742	Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism.	
GO:0042745	circadian sleep/wake cycle	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0042745	The cycle from wakefulness through an orderly succession of sleep states and stages that occurs on an approximately 24 hour rhythm.	
HGNC:3226	EFNB1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3226		
UBERON:0005019	mucosa of palate	biolink:AnatomicalEntity	mondo			palate mucosa of organ|oral roof mucosa of organ|mucous membrane of oral roof|oral roof mucosa|organ mucosa of oral roof|palate mucosa|mucosa of organ of roof of mouth|roof of mouth mucous membrane|oral roof organ mucosa|mucosa of oral roof|palate organ mucosa|roof of mouth mucosa|palate mucous membrane|oral roof mucous membrane|mucosa of organ of oral roof|roof of mouth organ mucosa|mucosa of organ of palate|organ mucosa of palate|mucous membrane of palate|organ mucosa of roof of mouth|roof of mouth mucosa of organ|mucous membrane of roof of mouth|mucosa of roof of mouth	http://purl.obolibrary.org/obo/UBERON_0005019	A mucosa that is part of a palate [Automatically generated definition].	
UBERON:0005017	mucosa of lacrimal sac	biolink:AnatomicalEntity	mondo			lacrimal sac mucosa|lacrimal sac mucous membrane|lacrimal sac organ mucosa|mucosa of organ of lacrimal sac|organ mucosa of lacrimal sac|mucous membrane of lacrimal sac|lacrimal sac mucosa of organ	http://purl.obolibrary.org/obo/UBERON_0005017	A mucosa that is part of a lacrimal sac [Automatically generated definition].	
UBERON:0005014	mucosa of female urethra	biolink:AnatomicalEntity	mondo			female urethra mucosa|female urethra organ mucosa|female urethra mucous membrane|mucosa of organ of female urethra|mucous membrane of female urethra|organ mucosa of female urethra|female urethra mucosa of organ	http://purl.obolibrary.org/obo/UBERON_0005014	A mucosa that is part of a female urethra [Automatically generated definition].	
UBERON:0005015	mucosa of prostatic urethra	biolink:AnatomicalEntity	mondo			mucous membrane of prostatic urethra|prostatic urethral mucosa|prostatic urethra mucosa of organ|organ mucosa of prostatic urethra|prostatic urethra mucosa|mucosa of organ of prostatic part of urethra|prostatic part of urethra mucous membrane|prostatic urethra organ mucosa|prostatic part of urethra mucosa|prostatic part of urethra organ mucosa|mucosa of organ of prostatic urethra|prostatic urethra mucous membrane|organ mucosa of prostatic part of urethra|mucous membrane of prostatic part of urethra|prostatic part of urethra mucosa of organ|mucosa of prostatic part of urethra|tunica mucosa urethrae prosticae	http://purl.obolibrary.org/obo/UBERON_0005015	A mucosa that is part of a prostatic urethra [Automatically generated definition].	
CHEBI:30436	tetrahydropterin	biolink:ChemicalSubstance	mondo			tetrahydropterins|tetrahydropteridines	http://purl.obolibrary.org/obo/CHEBI_30436		
ENVO:00000097	desert area	biolink:OntologyClass	mondo			arid region	http://purl.obolibrary.org/obo/ENVO_00000097	A region rendered barren or partially barren by environmental extremes, especially by low rainfall.	
OBO:mondo#disease_has_basis_in_accumulation_of	disease has basis in accumulation of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/mondo#disease_has_basis_in_accumulation_of		
HGNC:3229	EGF	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3229		
GO:0042752	regulation of circadian rhythm	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0042752	Any process that modulates the frequency, rate or extent of a circadian rhythm. A circadian rhythm is a biological process in an organism that recurs with a regularity of approximately 24 hours.	
UBERON:0005001	mucosa of common hepatic duct	biolink:AnatomicalEntity	mondo			organ mucosa of hepatic duct|mucous membrane of hepatic duct|common hepatic duct mucosa|common hepatic duct organ mucosa|hepatic duct mucosa of organ|mucosa of organ of common hepatic duct|common hepatic duct mucous membrane|hepatic duct mucous membrane|mucosa of organ of hepatic duct|common hepatic ductal mucosa|hepatic duct mucosa|hepatic duct organ mucosa|organ mucosa of common hepatic duct|mucous membrane of common hepatic duct|mucosa of hepatic duct|common hepatic duct mucosa of organ	http://purl.obolibrary.org/obo/UBERON_0005001	A mucosa that is part of a common hepatic duct [Automatically generated definition].	
UBERON:0005002	mucosa of right hepatic duct	biolink:AnatomicalEntity	mondo			right hepatic duct mucosa|right hepatic duct mucosa of organ|right hepatic duct organ mucosa|right hepatic duct mucous membrane|mucosa of organ of right hepatic duct|right hepatic ductal mucosa|mucous membrane of right hepatic duct|organ mucosa of right hepatic duct	http://purl.obolibrary.org/obo/UBERON_0005002	A mucosa that is part of a right hepatic duct [Automatically generated definition].	
UBERON:0005000	mucosa of common bile duct	biolink:AnatomicalEntity	mondo			mucosa of organ of common bile duct|common bile ductal mucosa|mucous membrane of ductus choledochus (biliaris)|organ mucosa of ductus choledochus (biliaris)|organ mucosa of common bile duct|ductus choledochus (biliaris) mucosa of organ|mucous membrane of common bile duct|mucosa of ductus choledochus (biliaris)|common bile duct mucosa|common bile duct organ mucosa|common bile duct mucosa of organ|ductus choledochus (biliaris) mucous membrane|mucosa of organ of ductus choledochus (biliaris)|ductus choledochus (biliaris) mucosa|ductus choledochus (biliaris) organ mucosa|common bile duct mucous membrane	http://purl.obolibrary.org/obo/UBERON_0005000	A mucosa that is part of a common bile duct [Automatically generated definition].	
GO:0042754	negative regulation of circadian rhythm	biolink:OntologyClass	mondo			downregulation of circadian rhythm|down regulation of circadian rhythm|inhibition of circadian rhythm|down-regulation of circadian rhythm	http://purl.obolibrary.org/obo/GO_0042754	Any process that stops, prevents, or reduces the frequency, rate or extent of a circadian rhythm behavior.	
GO:0042753	positive regulation of circadian rhythm	biolink:OntologyClass	mondo			up-regulation of circadian rhythm|activation of circadian rhythm|upregulation of circadian rhythm|up regulation of circadian rhythm|stimulation of circadian rhythm	http://purl.obolibrary.org/obo/GO_0042753	Any process that activates or increases the frequency, rate or extent of a circadian rhythm behavior.	
GO:0042755	eating behavior	biolink:OntologyClass	mondo			eating behaviour	http://purl.obolibrary.org/obo/GO_0042755	The specific behavior of an organism relating to the intake of food, any substance (usually solid) that can be metabolized by an organism to give energy and build tissue.	
UBERON:0005009	mucosa of trigone of urinary bladder	biolink:AnatomicalEntity	mondo			trigone of bladder organ mucosa|mucous membrane of deep trigone|mucosa of organ of trigone of bladder|organ mucosa of deep trigone|vesical trigone mucosa|vesical trigone organ mucosa|Lieutaud ' s trigone mucous membrane|urinary bladder trigone mucosa|trigone of urinary bladder mucosa of organ|urinary bladder trigone organ mucosa|deep trigone mucosa of organ|mucosa of organ of Lieutaud ' s trigone|mucosa of trigone of bladder|deep trigone mucosa|deep trigone organ mucosa|trigone of urinary bladder mucosa|mucous membrane of trigone of bladder|organ mucosa of trigone of bladder|mucous membrane of urinary bladder trigone|trigone of urinary bladder organ mucosa|organ mucosa of urinary bladder trigone|urinary bladder trigone mucosa of organ|mucous membrane of vesical trigone|vesical trigone mucosa of organ|mucosa of urinary bladder trigone|organ mucosa of vesical trigone|trigone of urinary bladder mucous membrane|mucosa of vesical trigone|mucosa of Lieutaud ' s trigone|organ mucosa of Lieutaud ' s trigone|deep trigone mucous membrane|trigone of bladder mucosa of organ|mucous membrane of Lieutaud ' s trigone|mucosa of organ of trigone of urinary bladder|mucosa of organ of deep trigone|mucosa of organ of urinary bladder trigone|Lieutaud ' s trigone mucosa|urinary bladder trigone mucous membrane|mucosa of organ of vesical trigone|Lieutaud ' s trigone organ mucosa|vesical trigone mucous membrane|Lieutaud ' s trigone mucosa of organ|trigone of bladder mucous membrane|trigone of bladder mucosa|mucosa of deep trigone|organ mucosa of trigone of urinary bladder|mucous membrane of trigone of urinary bladder	http://purl.obolibrary.org/obo/UBERON_0005009	A mucosa that is part of a trigone of urinary bladder [Automatically generated definition].	
HGNC:3239	EGR2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3239		
CHEBI:17478	aldehyde	biolink:ChemicalSubstance	mondo			Aldehyde|aldehyde|an aldehyde|aldehydum|aldehidos|aldehydes|aldehido|RC(=O)H|RCHO|Aldehyd|aldehydes	http://purl.obolibrary.org/obo/CHEBI_17478	A compound RC(=O)H, in which a carbonyl group is bonded to one hydrogen atom and to one R group.	
HGNC:3236	EGFR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3236		
UBERON:0005005	mucosa of left ureter	biolink:AnatomicalEntity	mondo			mucous membrane of left ureter|left ureter mucosa of organ|organ mucosa of left ureter|left ureteral mucosa|mucosa of organ of left ureter|left ureter mucous membrane|left ureter mucosa|left ureter organ mucosa	http://purl.obolibrary.org/obo/UBERON_0005005	A mucosa that is part of a left ureter [Automatically generated definition].	
UBERON:0005006	mucosa of renal pelvis	biolink:AnatomicalEntity	mondo			mucosa of organ of kidney pelvis|renal pelvis organ mucosa|kidney pelvis mucous membrane|organ mucosa of renal pelvis|mucous membrane of renal pelvis|pelvis of ureter mucous membrane|mucosa of organ of pelvis of ureter|renal pelvis mucosa of organ|pelvis of ureter mucosa|mucosa of pelvis of ureter|pelvis of ureter organ mucosa|kidney pelvis mucosa|organ mucosa of pelvis of ureter|mucous membrane of pelvis of ureter|kidney pelvis organ mucosa|renal pelvis mucous membrane|mucous membrane of kidney pelvis|organ mucosa of kidney pelvis|kidney pelvis mucosa of organ|mucosa of kidney pelvis|mucosa of organ of renal pelvis|pelvis of ureter mucosa of organ|tunica mucosa pelvis renalis|renal pelvic mucosa|renal pelvis mucosa	http://purl.obolibrary.org/obo/UBERON_0005006	A mucosa that is part of a renal pelvis [Automatically generated definition].	
UBERON:0005003	mucosa of left hepatic duct	biolink:AnatomicalEntity	mondo			left hepatic duct mucous membrane|left hepatic ductal mucosa|mucosa of organ of left hepatic duct|left hepatic duct mucosa|left hepatic duct organ mucosa|left hepatic duct mucosa of organ|mucous membrane of left hepatic duct|organ mucosa of left hepatic duct	http://purl.obolibrary.org/obo/UBERON_0005003	A mucosa that is part of a left hepatic duct [Automatically generated definition].	
HGNC:3233	MEGF8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3233		
UBERON:0005004	mucosa of right ureter	biolink:AnatomicalEntity	mondo			mucosa of organ of right ureter|right ureteral mucosa|organ mucosa of right ureter|mucous membrane of right ureter|right ureter mucosa|right ureter organ mucosa|right ureter mucosa of organ|right ureter mucous membrane	http://purl.obolibrary.org/obo/UBERON_0005004	A mucosa that is part of a right ureter [Automatically generated definition].	
PO:0000003	whole plant	biolink:OntologyClass	mondo	PO_GIT:69|PO_GIT:538	TraitNet|reference	prothalli (narrow)|shrub (narrow)|ramet (broad)|vine (narrow)|woody clump (narrow)|herb (narrow)|prothallus (narrow)|tree (narrow)|frutex (narrow)|colony (related)|prothallium (narrow)|植物体全体 (Japanese, exact)|suffrutex (narrow)|clonal colony (related)|frutices (narrow)|sporophyte (narrow)|planta entera (Spanish, exact)|gametophyte (narrow)|suffrutices (narrow)|seedling (narrow)|liana (narrow)|genet (broad)|bush (narrow)	http://purl.obolibrary.org/obo/PO_0000003	A plant structure (PO:0005679) which is a whole organism.	
ENVO:00000063	water body	biolink:OntologyClass	mondo			bodies of water|body of water|waterbody|aquatic feature|hydrographic feature	http://purl.obolibrary.org/obo/ENVO_00000063	An accumulation of water of varying size.	
HP:0000238	Hydrocephalus	biolink:PhenotypicFeature	mondo	UMLS:C0020255|SNOMEDCT_US:230745008|MSH:D006849		Too much cerebrospinal fluid in the brain|Nonsyndromal hydrocephalus|Hydrocephaly	http://purl.obolibrary.org/obo/HP_0000238	Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.	
FOODON:00001871	food product analog	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00001871		
HP:0000230	Gingivitis	biolink:PhenotypicFeature	mondo	MSH:D005891|UMLS:C0017574|SNOMEDCT_US:66383009	hposlim_core	Inflamed gums|Gingival inflammation|Red and swollen gums	http://purl.obolibrary.org/obo/HP_0000230	Inflammation of the gingiva.	
HP:0000233	Thin vermilion border	biolink:PhenotypicFeature	mondo	UMLS:C0578038|SNOMEDCT_US:301348000		Thin vermillion|Decreased volume of lip|Thin lips|Decreased volume of lip vermillion|Thin vermilion borders	http://purl.obolibrary.org/obo/HP_0000233	Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).	
HP:0000234	Abnormality of the head	biolink:PhenotypicFeature	mondo	UMLS:C4021812		Head abnormality|Abnormal head|Abnormality of the head	http://purl.obolibrary.org/obo/HP_0000234	An abnormality of the head.	
GO:0015136	sialic acid transmembrane transporter activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0015136	Enables the transfer of sialic acid from one side of a membrane to the other.	
HP:0012210	Abnormal renal morphology	biolink:PhenotypicFeature	mondo	Fyler:4512|SNOMEDCT_US:44513007|UMLS:C0266292		Abnormal kidney morphology|Kidney structure issue|Structural kidney abnormalities|Abnormally shaped kidney|Kidney malformation|Structural renal anomalies|Structural anomalies of the renal tract|Renal malformation	http://purl.obolibrary.org/obo/HP_0012210	Any structural anomaly of the kidney.	
HP:0012211	Abnormal renal physiology	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:39539005|UMLS:C0151746		Abnormal kidney function|Kidney function issue|Abnormal renal function|Abnormality of renal physiology|Renal functional abnormality	http://purl.obolibrary.org/obo/HP_0012211	An abnormal functionality of the kidney.	
ENVO:00000073	building	biolink:OntologyClass	mondo			building|BUILDING	http://purl.obolibrary.org/obo/ENVO_00000073	A permanent walled and roofed construction.	
ENVO:00000070	human construction	biolink:OntologyClass	mondo			constructed feature	http://purl.obolibrary.org/obo/ENVO_00000070	A construction that has been assembled by deliberate human effort.	
HP:0000243	Trigonocephaly	biolink:PhenotypicFeature	mondo	MSH:D003398|UMLS:C4280666|UMLS:C4280665|SNOMEDCT_US:28740008|UMLS:C0265535	hposlim_core	Wedge shaped cranium|Triangular skull shape|Triangular head shape|Triangular cranium shape|Wedge shaped skull|Wedge shaped head	http://purl.obolibrary.org/obo/HP_0000243	Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.	
GO:0015149	hexose transmembrane transporter activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0015149	Enables the transfer of a hexose sugar, a monosaccharide with 6 carbon atoms, from one side of a membrane to the other.	
GO:0015144	carbohydrate transmembrane transporter activity	biolink:OntologyClass	mondo			carbohydrate transporter activity|sugar transporter	http://purl.obolibrary.org/obo/GO_0015144	Enables the transfer of carbohydrate from one side of a membrane to the other.	
HP:0012219	Erythema nodosum	biolink:PhenotypicFeature	mondo	UMLS:C0014743|MSH:D004893|SNOMEDCT_US:32861005			http://purl.obolibrary.org/obo/HP_0012219	An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral.	
GO:0015145	monosaccharide transmembrane transporter activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0015145	Enables the transfer of a monosaccharide from one side of a membrane to the other.	
HP:0000240	Abnormality of skull size	biolink:PhenotypicFeature	mondo	UMLS:C4025874		Abnormality of skull size|Abnormality of cranium size|Abnormality of head size	http://purl.obolibrary.org/obo/HP_0000240	Any abnormality of the size of the skull.	
MONDO:0021196	disease by molecular activity disrupted	biolink:Disease	mondo		metaclass		http://purl.obolibrary.org/obo/MONDO_0021196		
MONDO:0021195	disease by cellular process disrupted	biolink:Disease	mondo		metaclass		http://purl.obolibrary.org/obo/MONDO_0021195		
MONDO:0021194	disease by subcellular system affected	biolink:Disease	mondo		metaclass		http://purl.obolibrary.org/obo/MONDO_0021194	A grouping of diseases based on molecular activity, cellular process or subcellular component.	
MONDO:0021193	neuroepithelial neoplasm	biolink:Disease	mondo	MESH:D018302|NCIT:C3787|ONCOTREE:PRNET		tumor of the neuroepithelium|tumor of neuroepithelium|neuroepithelial tissue neoplasm|tumor of neuroepithelial tissue|neuroepithelial tumor|primary neuroepithelial tumor|neoplasm of the neuroepithelium|neoplasm of neuroepithelium|neuroepithelial neoplasms|neuroepithelial neoplasm|neoplasm of neuroepithelial tissue|neuroepithelial tumors|neuroepithelial tissue tumor	http://purl.obolibrary.org/obo/MONDO_0021193	A neoplasm of the nervous system that arises from the neuroepithelial tissues. Representative examples include astrocytic tumors, oligodendroglial tumors, ependymal tumors, and primitive neuroectodermal tumors.	MESH:D018302|NCIT:C3787
MONDO:0021192	odontogenic neoplasm	biolink:Disease	mondo	NCIT:C3286|MESH:D009808|UMLS:C0028880|ICDO:9270/1		calcareous tooth neoplasm|tumor of calcareous tooth|calcareous tooth neoplasm (disease)|odontogenic neoplasm|neoplasm of calcareous tooth|calcareous tooth tumor|odontogenic tumor	http://purl.obolibrary.org/obo/MONDO_0021192	A benign or malignant neoplasm arising from tooth-forming tissues. It occurs in the maxillofacial skeleton or the gingiva. Benign tumors are slow growing and are not associated with specific clinical symptoms. Pain is absent or slight. Malignant tumors are usually associated with rapid swelling and pain.	MESH:D009808|NCIT:C3286|UMLS:C0028880
MONDO:0021191	malignant ependymoma	biolink:Disease	mondo	UMLS_CUI:C1333407|DOID:5074		ependymal tumors|ependymoma, malignant|ependymal neoplasm	http://purl.obolibrary.org/obo/MONDO_0021191	A malignant form of ependymoma.	DOID:5074
MONDO:0021190	DNA repair disease	biolink:Disease	mondo	EFO:0008499|MESH:D049914|NCIT:C7757		DNA repair deficiency|syndromes, chromosome instability|syndrome, chromosome instability|DNA repair-deficiency|DNA Repairs, deficient|DNA repair-deficiency disorder|disorder of DNA repair|deficient DNA Repairs|chromosome instability syndromes|Repairs, deficient DNA|DNA repair-deficiencies|disorder, DNA repair-deficiency|DNA repair disorder|disorder of DNA repair|disorders, DNA repair-deficiency|deficiency of DNA repair|repair, deficient DNA|DNA repair, deficient|DNA repair deficiency disorders|deficient DNA repair|chromosome instability syndrome	http://purl.obolibrary.org/obo/MONDO_0021190	A disease that has its basis in the disruption of DNA repair.	NCIT:C7757|MESH:D049914
HP:0012205	Globozoospermia	biolink:PhenotypicFeature	mondo	UMLS:C0403825|MSH:D000072660|SNOMEDCT_US:236818008			http://purl.obolibrary.org/obo/HP_0012205	Any structural anomaly of the acrosome resulting in a round sperm head.	
GO:0005794	Golgi apparatus	biolink:OntologyClass	mondo			Golgi complex|Golgi ribbon|Golgi	http://purl.obolibrary.org/obo/GO_0005794	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.	
HP:0000219	Thin upper lip vermilion	biolink:PhenotypicFeature	mondo	UMLS:C1865017	hposlim_core	Thin vermilion border of upper lip|Decreased volume of upper lip|Thin red part of the upper lip|Thin upper lips|Thin upper lip|Decreased height of upper lip vermilion|Decreased volume of upper lip vermilion	http://purl.obolibrary.org/obo/HP_0000219	Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).	
MONDO:0021199	disease by anatomical system	biolink:Disease	mondo	DOID:7|SCTID:362965005|ICD9:796.4|UMLS:C1285159	metaclass	disease of anatomical system|disease of anatomical entity|disorder of anatomical system|anatomical system disease	http://purl.obolibrary.org/obo/MONDO_0021199	A disease that disrupts the functioning of an organ system.	DOID:7|SNOMEDCT:362965005|UMLS:C1285159
MONDO:0021198	obsolete rare genetic disease	biolink:Disease	mondo	Orphanet:98053|UMLS:CN206953	obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0021198		ORPHA:98053|UMLS:CN206953
MONDO:0021197	disease by cellular component affected	biolink:Disease	mondo		metaclass		http://purl.obolibrary.org/obo/MONDO_0021197		
HP:0002870	Obstructive sleep apnea	biolink:PhenotypicFeature	mondo	UMLS:C0520679|MSH:D020181|SNOMEDCT_US:78275009		Obstructive sleep apnoea	http://purl.obolibrary.org/obo/HP_0002870	A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow.	
MONDO:0021184	deltaretrovirus infections	biolink:Disease	mondo	MESH:D006800		infection, Deltaretrovirus|BLV infection|HTLV BLV infections|HTLV-BLV infections|Deltaretrovirus infection|HTLV infections|HTLV infection|HTLV-BLV infection|BLV infections|infections, Deltaretrovirus	http://purl.obolibrary.org/obo/MONDO_0021184	Infections caused by the HTLV or BLV deltaretroviruses. They include human T-cell leukemia-lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED).	MESH:D006800
MONDO:0021183	HTLV-2 infection	biolink:Disease	mondo	GARD:0009783|MESH:D015491|SCTID:425740005|UMLS:C0020102|EFO:1001349		Infections, HTLV-II|HTLV II INFECT|HTLV-II Infections|Infection, HTLV-II|Human T-lymphotropic virus 2 infection|HTLV-2 infection|Human T-lymphotropic Virus 2 Infections|Human T lymphotropic Virus 2 Infections|HTLV-II Infection|HTLV-II infection|Human T lymphotropic Virus 2 Infection|INFECT HTLV II|Infections, HTLV II|Human T-lymphotropic Virus 2 Infection	http://purl.obolibrary.org/obo/MONDO_0021183		MESH:D015491|SNOMEDCT:425740005|UMLS:C0020102
MONDO:0021181	inherited blood coagulation disorder	biolink:Disease	mondo	UMLS:C0852077|DOID:2214|UMLS:CN226819|MESH:D025861|Orphanet:183654	ordo_group_of_disorders	inherited coagulation disorders|hereditary coagulation disorders|coagulation disorders, inherited|rare genetic coagulation disorder|inherited blood coagulation disease|inherited blood coagulation disorders|hereditary blood coagulation disorders|coagulation disorder, inherited|coagulation disorder, hereditary|hereditary blood coagulation disease|coagulation disorders, hereditary|hereditary coagulation disorder|inherited coagulation disorder	http://purl.obolibrary.org/obo/MONDO_0021181	Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation.	ORPHA:183654|UMLS:CN226819|MESH:D025861|DOID:2214|UMLS:C0852077
MONDO:0021180	acquired xanthinuria	biolink:Disease	mondo			acquired xanthinuria	http://purl.obolibrary.org/obo/MONDO_0021180	Acquired xanthinuria is generally iatrogenic. Allopurinol treatment, administered to block XOR and prevent uric acid overproduction, leads to the accumulation of xanthine. Rarely, in the setting of aggressive chemotherapy with rapid tumor lysis or in patients with HPRT deficiency on allopurinol therapy, complications of renal failure can develop from xanthine crystal nephropathy.	
MONDO:0021189	intestinal motility disease	biolink:Disease	mondo			disorder of intestinal motility|disorder of intestinal motility	http://purl.obolibrary.org/obo/MONDO_0021189	A disease that has its basis in the disruption of intestinal motility.	
MONDO:0021188	obsolete hemangiopericytoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021188		
MONDO:0021187	hyperlipidemia (disease)	biolink:Disease	mondo	UMLS:CN236649|ICD10:E78.5|HP:0003077|UMLS:C0020473|COHD:432867|SCTID:55822004|EFO:0003774|ICD9:272.4|MESH:D006949		hyperlipemia|hyperlipidemia|lipidemias|lipemia|lipemias|lipidemia|hyperlipemias	http://purl.obolibrary.org/obo/MONDO_0021187		UMLS:C0020473|UMLS:CN236649|SNOMEDCT:55822004|MESH:D006949
HP:0002883	Hyperventilation	biolink:PhenotypicFeature	mondo	MSH:D006985|SNOMEDCT_US:68978004|UMLS:C0020578		Rapid breathing	http://purl.obolibrary.org/obo/HP_0002883	Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide.	
HP:0000223	Abnormality of taste sensation	biolink:PhenotypicFeature	mondo	UMLS:C4025879		Abnormality of taste sensation	http://purl.obolibrary.org/obo/HP_0000223		
HGNC:24797	FAM83H	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24797		
ENVO:00000020	lake	biolink:OntologyClass	mondo			loch|lochan|llyn|lough|mortlake|tarn|broad|pasteuer lake|catch basin|open water|mere	http://purl.obolibrary.org/obo/ENVO_00000020	A body of water or other liquid of considerable size contained in a depression on a landmass.	
GO:0005777	peroxisome	biolink:OntologyClass	mondo			peroxisomal|peroxisome vesicle	http://purl.obolibrary.org/obo/GO_0005777	A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism.	
GO:0030730	sequestering of triglyceride	biolink:OntologyClass	mondo			storage of triacylglycerol|triacylglycerol storage|retention of triacylglycerol|triglyceride sequestering|triglyceride retention|sequestration of triglyceride|triglyceride storage|sequestration of triacylglycerol|triacylglycerol sequestration|triacylglycerol sequestering|sequestering of triacylglycerol|retention of triglyceride|storage of triglyceride|triacylglycerol retention|triglyceride sequestration	http://purl.obolibrary.org/obo/GO_0030730	The process of binding or confining any triester of glycerol such that it is separated from other components of a biological system.	
GO:0030731	guanidinoacetate N-methyltransferase activity	biolink:OntologyClass	mondo			methionine-guanidinoacetic transmethylase activity|guanidinoacetate methyltransferase activity|GA methylpherase activity|S-adenosyl-L-methionine:N-guanidinoacetate methyltransferase activity|guanidinoacetate transmethylase activity|guanidoacetate methyltransferase activity	http://purl.obolibrary.org/obo/GO_0030731	Catalysis of the reaction: S-adenosyl-L-methionine + guanidinoacetate = S-adenosyl-L-homocysteine + creatine + H(+).	
GO:0005775	vacuolar lumen	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0005775	The volume enclosed within the vacuolar membrane.	
MONDO:0060779	acquired Fanconi syndrome	biolink:Disease	mondo	SCTID:236467001|NCIT:C78296|UMLS:C0341702		acquired Fanconi syndrome	http://purl.obolibrary.org/obo/MONDO_0060779	Fanconi Syndrome caused by exposure to noxious agents.	NCIT:C78296|UMLS:C0341702|SNOMEDCT:236467001
GO:0005773	vacuole	biolink:OntologyClass	mondo			vacuolar carboxypeptidase Y	http://purl.obolibrary.org/obo/GO_0005773	A closed structure, found only in eukaryotic cells, that is completely surrounded by unit membrane and contains liquid material. Cells contain one or several vacuoles, that may have different functions from each other. Vacuoles have a diverse array of functions. They can act as a storage organelle for nutrients or waste products, as a degradative compartment, as a cost-effective way of increasing cell size, and as a homeostatic regulator controlling both turgor pressure and pH of the cytosol.	
MONDO:0060778	adult Fanconi syndrome	biolink:Disease	mondo	NCIT:C4377		adult Fanconi's syndrome|adult Fanconi syndrome	http://purl.obolibrary.org/obo/MONDO_0060778	Probably related to a recessive gene, this is Fanconi Syndrome, characterised by adult onset. -- 2003	NCIT:C4377
MONDO:0060777	cervical fibroepithelial polyp	biolink:Disease	mondo	UMLS:C1516413|NCIT:C40200		uterine cervix fibroepithelial polyp|Cervical fibroepithelial polyp	http://purl.obolibrary.org/obo/MONDO_0060777	A usually solitary polypoid lesion that arises from the cervix. It usually affects women in their reproductive years. It is characterized by the presence of a connective tissue core and overlying epithelium.	UMLS:C1516413|NCIT:C40200
MONDO:0060774	vaginal fibroepithelial polyp	biolink:Disease	mondo	NCIT:C4948|UMLS:C0750071		fibroepithelial polyp of the vagina|vaginal fibroepithelial stromal polyp|vaginal fibroepithelial polyp|fibroepithelial polyp of vagina	http://purl.obolibrary.org/obo/MONDO_0060774	A superficial polypoid lesion that arises from the vagina. It is characterized by the presence of a fibroblastic stroma which is often myxoid, covered by squamous epithelial cells.	UMLS:C0750071|NCIT:C4948
HP:0000275	Narrow face	biolink:PhenotypicFeature	mondo	UMLS:C1837463|UMLS:C1849121	hposlim_core	Transverse hypoplasia of face|Narrow face|Thin face|Horizontal deficiency of face|Transverse insufficiency of face|Decreased horizontal dimension of face|Narrow facies|Horizontal hypoplasia of face|Thin facies|Decreased breadth of face|Decreased transverse dimension of face|Transverse deficiency of face|Horizontal insufficiency of face|Decreased width of face	http://purl.obolibrary.org/obo/HP_0000275	Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).	
MONDO:0060782	premalignant hematological system disease	biolink:Disease	mondo	NCIT:C27274|UMLS:C1335471		premalignant hematologic condition	http://purl.obolibrary.org/obo/MONDO_0060782	A hematologic disorder which does not display the morphologic and/or clinical characteristics of an overt malignancy. Representative examples include atypical lymphoproliferative disorders and myelodysplastic syndromes.	NCIT:C27274|UMLS:C1335471
MONDO:0060781	Preeyasombat-Varavithya syndrome	biolink:Disease	mondo	MESH:C535269|UMLS:C2930859		Fanconi syndrome caused by degraded tetracycline	http://purl.obolibrary.org/obo/MONDO_0060781		MESH:C535269|UMLS:C2930859
HP:0000274	Small face	biolink:PhenotypicFeature	mondo	UMLS:C1855538		Hypoplasia of face|Facial hypoplasia|Small facies|Short and narrow face|Small face|Microfacies|Microface	http://purl.obolibrary.org/obo/HP_0000274	A face that is short (HP:0011219) and narrow (HP:0000275).	
HP:0000277	Abnormality of the mandible	biolink:PhenotypicFeature	mondo	UMLS:C4025870	hposlim_core	Abnormality of the lower jaw bone|Anomaly of the mandible|Deformity of the lower jaw bone|Malformation of the lower jaw bone|Abnormality of the mandible|Deformity of the mandible|Malformation of the mandible	http://purl.obolibrary.org/obo/HP_0000277	Any abnormality of the mandible, the bone of the lower jaw.	
HP:0000278	Retrognathia	biolink:PhenotypicFeature	mondo	UMLS:C3494422|MSH:D063173	hposlim_core	Weak chin|Retrognathia of lower jaw|Retrogenia|Receding mandible|Lower jaw retrognathia|Weak jaw|Receding chin|Receding lower jaw	http://purl.obolibrary.org/obo/HP_0000278	An abnormality in which the mandible is mislocalised posteriorly.	
UBERON:0007617	synovial cavity of joint	biolink:AnatomicalEntity	mondo			cavitas articularis (junctura synovialis)|articular cavity (synovial joint)|cavity of synovial joint|synovial cavity|joint cavity	http://purl.obolibrary.org/obo/UBERON_0007617	An anatomical cavity that surrounded_by a synovial joint.	
UBERON:0007616	layer of synovial tissue	biolink:AnatomicalEntity	mondo			synovial membrane|synovium|stratum synoviale|synovial layer|synovial tissue	http://purl.obolibrary.org/obo/UBERON_0007616	A thin, loose vascular connective tissue that makes up the membranes surrounding joints and the sheaths protecting tendons (particularly flexor tendons in the hands and feet) where they pass over bony prominences. Synovial tissue contains synovial cells, which secrete a viscous liquid called synovial fluid; this liquid contains protein and hyaluronic acid and serves as a lubricant and nutrient for the joint cartilage surfaces[BTO]. Synovial tissue can be found in tendons (tissues that connect muscle to bone), bursae (fluid-filled, cushioning sacs found in spaces between tendons, ligaments, and bones), and the cavity (hollow enclosed area) that separates the bones of a freely movable joint, such as the knee or elbow[BTO].	
HP:0000271	Abnormality of the face	biolink:PhenotypicFeature	mondo	UMLS:C0266617|SNOMEDCT_US:118930001|UMLS:C4025871|SNOMEDCT_US:398302004|UMLS:C1290857|SNOMEDCT_US:32003007|SNOMEDCT_US:398206004	hposlim_core	Abnormal face|Facial anomaly|Disorder of the face|Disorder of face|Abnormality of the face|Anomaly of face|Anomaly of the face|Abnormality of the physiognomy|Abnormality of the visage|Facial abnormality|Abnormality of the countenance	http://purl.obolibrary.org/obo/HP_0000271	An abnormality of the face.	
HP:0000272	Malar flattening	biolink:PhenotypicFeature	mondo	UMLS:C4280651|UMLS:C1858085	hposlim_core	Zygomatic flattening|Underdevelopment of malar bone|Flat cheekbone|Hypotrophic malar bone|Malar hypoplasia|Depressed malar region|Decreased size of malar bone	http://purl.obolibrary.org/obo/HP_0000272	Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.	
MONDO:0060768	gingival fibroepithelial polyp	biolink:Disease	mondo	SCTID:235001002|UMLS:C0399441|NCIT:C4693		gum fibroepithelial polyp|fibroepithelial polyp of the gingiva|fibroepithelial polyp of gingiva|gingival fibroepithelial polyp|fibroepithelial polyp of the gum|fibroepithelial polyp of gum	http://purl.obolibrary.org/obo/MONDO_0060768	A non-neoplastic nodular lesion that arises from the gingiva. It is composed of epithelial cells lining connective tissue stroma.	NCIT:C4693|SNOMEDCT:235001002|UMLS:C0399441
HGNC:22140	FAM20C	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/22140		
MONDO:0060766	anal polyp	biolink:Disease	mondo	SCTID:88580009|UMLS:C0267573|NCIT:C3957		anal polyp|polyp of anus|polyp of the anus	http://purl.obolibrary.org/obo/MONDO_0060766	A non-neoplastic or neoplastic polypoid lesion that arises from the anus. Representative examples include the fibroepithelial polyp and squamous papilloma.	UMLS:C0267573|NCIT:C3957|SNOMEDCT:88580009
MONDO:0060765	fibroepithelial polyp	biolink:Disease	mondo	NCIT:C3337		fibroepithelial polyp|fibropapilloma, benign	http://purl.obolibrary.org/obo/MONDO_0060765	A polypoid lesion composed of fibrous tissue and epithelium. Representative examples include skin tag, anal fibroepithelial polyp, and gingival fibroepithelial polyp.	NCIT:C3337
MONDO:0060764	tetraamelia syndrome 1	biolink:Disease	mondo	OMIM:273395		tetraamelia syndrome, autosomal recessive|TETAMS1|tetraamelia syndrome 1; TETAMS1	http://purl.obolibrary.org/obo/MONDO_0060764		http://identifiers.org/omim/273395
MONDO:0060763	intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	biolink:Disease	mondo	OMIM:618092		INTELLECTUAL developmental disorder with speech delay, DYSMORPHIC facies, and T-cell abnormalities; IDDSFTA|IDDSFTA	http://purl.obolibrary.org/obo/MONDO_0060763		http://identifiers.org/omim/618092
HP:0012252	Abnormal respiratory system morphology	biolink:PhenotypicFeature	mondo	Fyler:4235|UMLS:C4022992			http://purl.obolibrary.org/obo/HP_0012252	A structural anomaly of the respiratory system.	
MONDO:0060761	neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	biolink:Disease	mondo	OMIM:618090		neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum; NEDEHCC|NEDEHCC	http://purl.obolibrary.org/obo/MONDO_0060761		http://identifiers.org/omim/618090
HP:0000286	Epicanthus	biolink:PhenotypicFeature	mondo	UMLS:C0678230	hposlim_core	Epicanthal folds|Epicanthic folds|Prominent eye folds|Epicanthal fold|Palpebronasal fold|Eye folds|Plica palpebronasalis	http://purl.obolibrary.org/obo/HP_0000286	A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.	
GO:0015108	chloride transmembrane transporter activity	biolink:OntologyClass	mondo			chloride ion transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0015108	Enables the transfer of chloride ions from one side of a membrane to the other.	
GO:0015103	inorganic anion transmembrane transporter activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0015103	Enables the transfer of inorganic anions from one side of a membrane to the other. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage.	
UBERON:0007602	stratified columnar epithelium	biolink:AnatomicalEntity	mondo			epithelium stratificatum columnare	http://purl.obolibrary.org/obo/UBERON_0007602	Stratified columnar epithelia is a rare type of epithelial tissue composed of column shaped cells arranged in multiple layers. Stratified columnar epithelia are found in the ocular conjunctiva of the eye, in parts of the pharynx and anus, the female's uterus, the male urethra and vas deferens. Also found in intralobular ducts in salivary glands.[WP]	
UBERON:0007601	ciliated epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0007601	Epithelium bearing vibratile cilia on the free surface.	
HP:0012243	Abnormal reproductive system morphology	biolink:PhenotypicFeature	mondo	UMLS:C4021096		Abnormal genital system morphology	http://purl.obolibrary.org/obo/HP_0012243	A structural or developmental anomaly of any of the tissues involved in the genital system.	
ENVO:00000002	anthropogenic geographic feature	biolink:OntologyClass	mondo			man-made feature|manmade feature	http://purl.obolibrary.org/obo/ENVO_00000002	An anthropogenic geographic feature is a geographic feature resulting from the influence of human beings on nature.	
GO:0005759	mitochondrial matrix	biolink:OntologyClass	mondo			mitochondrial stroma|mitochondrial lumen	http://purl.obolibrary.org/obo/GO_0005759	The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation.	
ENVO:00000000	geographic feature	biolink:OntologyClass	mondo			macroscopic spatial feature	http://purl.obolibrary.org/obo/ENVO_00000000		
GO:0005753	mitochondrial proton-transporting ATP synthase complex	biolink:OntologyClass	mondo			mitochondrial respiratory chain complex V	http://purl.obolibrary.org/obo/GO_0005753	A proton-transporting ATP synthase complex found in the mitochondrial membrane.	
GO:0005750	mitochondrial respiratory chain complex III	biolink:OntologyClass	mondo			mitochondrial coenzyme Q-cytochrome c oxidoreductase complex|mitochondrial coenzyme Q-cytochrome c reductase complex|mitochondrial ubiquinol-cytochrome c oxidoreductase complex|mitochondrial electron transport complex III|mitochondrial complex III|mitochondrial cytochrome bc1 complex|mitochondrial cytochrome bc(1) complex|mitochondrial ubiquinol-cytochrome-c reductase complex	http://purl.obolibrary.org/obo/GO_0005750	A protein complex located in the mitochondrial inner membrane that forms part of the mitochondrial respiratory chain. Contains about 10 polypeptide subunits including four redox centers: cytochrome b/b6, cytochrome c1 and an 2Fe-2S cluster. Catalyzes the oxidation of ubiquinol by oxidized cytochrome c1.	
HP:0000252	Microcephaly	biolink:PhenotypicFeature	mondo	UMLS:C0424688|SNOMEDCT_US:271611007|Fyler:4310	hposlim_core	Decreased size of cranium|Abnormally small cranium|Reduced head circumference|small calvarium|Small head|small cranium|Abnormally small head|Decreased size of head|Small skull|Abnormally small skull|Decreased size of skull|Decreased circumference of cranium|Small head circumference	http://purl.obolibrary.org/obo/HP_0000252	Head circumference below 2 standard deviations below the mean for age and gender.	
HGNC:12796	WT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12796		
HP:0000256	Macrocephaly	biolink:PhenotypicFeature	mondo	UMLS:C4280664|UMLS:C4280663|Fyler:4335|UMLS:C4083076|UMLS:C4255213	hposlim_core	Big head|Increased size of skull|Large head|Large head circumference|Megacephaly|Big skull|Increased size of cranium|Large skull|Large calvaria|Increased size of head|Big cranium|Macrocrania|Large cranium|Big calvaria	http://purl.obolibrary.org/obo/HP_0000256	Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.	
HGNC:12799	WWOX	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12799		
MONDO:0033187	combined oxidative phosphorylation defect type 29	biolink:Disease	mondo	Orphanet:478029	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0033187		ORPHA:478029
HGNC:12791	WRN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12791		
ENVO:00000012	hydrographic feature	biolink:OntologyClass	mondo			fluvial feature	http://purl.obolibrary.org/obo/ENVO_00000012	A geographical feature associated with water.	
HP:0012234	Agranulocytosis	biolink:PhenotypicFeature	mondo	UMLS:C0702094			http://purl.obolibrary.org/obo/HP_0012234	Marked decrease in the number of granulocytes.	
GO:0005766	primary lysosome	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0005766	A lysosome before it has fused with a vesicle or vacuole.	
GO:0005764	lysosome	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0005764	A small lytic vacuole that has cell cycle-independent morphology and is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions.	
GO:0005761	mitochondrial ribosome	biolink:OntologyClass	mondo			55S ribosome, mitochondrial	http://purl.obolibrary.org/obo/GO_0005761	A ribosome found in the mitochondrion of a eukaryotic cell; contains a characteristic set of proteins distinct from those of cytosolic ribosomes.	
HGNC:24783	LRIT3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24783		
CHEBI:42485	formyl group	biolink:ChemicalSubstance	mondo			aldehyde group|carbaldehyde|-CH(O)|-CHO|formyl|H-CO-|FORMYL GROUP|methanoyl|Fo	http://purl.obolibrary.org/obo/CHEBI_42485		
GO:0030705	cytoskeleton-dependent intracellular transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0030705	The directed movement of substances along cytoskeletal fibers such as microfilaments or microtubules within a cell.	
MONDO:0060783	classic congenital adrenal hyperplasia	biolink:Disease	mondo	UMLS:C4329672|NCIT:C131423		classic CAH|classic congenital adrenal hyperplasia	http://purl.obolibrary.org/obo/MONDO_0060783	A severe form of congenital adrenal hyperplasia characterized by very low or absent activity of an enzyme in the steroidogenic pathway typically presenting early in life, and requiring life-long cortisol replacement.	UMLS:C4329672|NCIT:C131423
MONDO:0033196	obsolete skin/hair/eye pigmentation, variation in	biolink:Disease	mondo	OMIMPS:227220			http://purl.obolibrary.org/obo/MONDO_0033196		
ENVO:00000019	saline lake	biolink:OntologyClass	mondo			salina|salt lake|soda lake	http://purl.obolibrary.org/obo/ENVO_00000019	A lake whose water contains a considerable concentration of dissolved salts.	
ENVO:00000016	sea	biolink:OntologyClass	mondo			channel|open water|closed sea|Sea|sea|open sound|open sea|marginal sea	http://purl.obolibrary.org/obo/ENVO_00000016	A large expanse of saline water usually connected with an ocean.	
ENVO:00000017	saline hydrographic feature	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_00000017	A geographical feature associated with water with a halinity above 30 ppt (roughly 35 g/L).	
MONDO:0033198	deafness, autosomal recessive 106	biolink:Disease	mondo	OMIM:617637|DOID:0080261		autosomal recessive nonsyndromic deafness 106|deafness, autosomal recessive 106; DFNB106|DFNB106	http://purl.obolibrary.org/obo/MONDO_0033198		DOID:0080261|http://identifiers.org/omim/617637
MONDO:0033199	deafness, autosomal recessive 107	biolink:Disease	mondo	OMIM:617639|DOID:0080262		DFNB107|autosomal recessive nonsyndromic deafness 107|deafness, autosomal recessive 107; DFNB107	http://purl.obolibrary.org/obo/MONDO_0033199		DOID:0080262|http://identifiers.org/omim/617639
ENVO:00000015	ocean	biolink:OntologyClass	mondo			ocean region|ocean|Ocean	http://purl.obolibrary.org/obo/ENVO_00000015	A marine water body which is constitutes the majority of an astronomical body's hydrosphere.	
MONDO:0023679	hematohidrosis	biolink:Disease	mondo	GARD:0013131|UMLS:C0473554|ICD10:L74.8|SCTID:238757003|ICD9:705.89	gard_rare	Hematohidrosis|Hematidrosis	http://purl.obolibrary.org/obo/MONDO_0023679	Hematohidrosis is a rare condition characterized by blood oozing from intact skin and mucosa. Signs and symptoms include sweating blood, crying bloody tears, bleeding from the nose, bleeding from the ears, or oozing bloodfrom other skin surfaces. The episodes are usually self-limiting.	UMLS:C0473554|SNOMEDCT:238757003
MONDO:0008039	tropical spastic paraparesis	biolink:Disease	mondo	MedDRA:10044696|ICD10:G04.1|SCTID:714279000|UMLS:C0030481|Orphanet:289326|ICD9:323.01|EFO:0007527|DOID:321|GARD:0008208|MESH:D015493|OMIM:159580	ordo_disease	Human T-cell leukemia virus type 1 associated myelopathy/tropical spastic paraparesis|myelopathy, HTLV-1-associated|TSP|ham/TSP|tropical spastic paraparesis (formerly)|myelopathy, HTLV-1-associated; ham|HTLV-associated myelopathy|Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis|familial spastic paraparesis, HTLV-1-associated|ham|HTLV-1 associated myelopathy/tropical spastic paraparesis|tropical spastic paraplegia|HTLV-1-associated myelopathy/tropical spastic paraparesis|tropical spastic paralysis|Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis	http://purl.obolibrary.org/obo/MONDO_0008039	Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection.	MESH:D015493|DOID:321|UMLS:C0030481|SNOMEDCT:714279000|ORPHA:289326|http://identifiers.org/omim/159580|MEDDRA:10044696
MONDO:0021017	synaptopathy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021017	A disease caused by dysfunction of synapses.	
MONDO:0021016	channelopathy	biolink:Disease	mondo	MESH:D053447|UMLS:C1720983		disorder of ion channel activity|disorder of ion channel activity|ion channel activity disease	http://purl.obolibrary.org/obo/MONDO_0021016	A disease caused by disturbed function of ion channel subunits or the proteins that regulate them.	MESH:D053447|UMLS:C1720983
MONDO:0008037	myelinated optic nerve fibers	biolink:Disease	mondo	OMIM:159500		myelinated optic nerve fibers	http://purl.obolibrary.org/obo/MONDO_0008037		http://identifiers.org/omim/159500
MONDO:0008038	ataxia-pancytopenia syndrome	biolink:Disease	mondo	ICD10:D61.0|OMIM:159550|MESH:C563233|GARD:0003865|UMLS:C1327919|Orphanet:2585|SCTID:768556005	ordo_malformation_syndrome	ataxia-pancytopenia syndrome|ATXPC|ataxia-pancytopenia syndrome; ATXPC|myelocerebellar disorder	http://purl.obolibrary.org/obo/MONDO_0008038	Ataxia-pancytopenia syndrome is a rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.	SNOMEDCT:768556005|ORPHA:2585|UMLS:C1327919|MESH:C563233|http://identifiers.org/omim/159550
MONDO:0060611	combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	biolink:Disease	mondo	OMIM:617780|UMLS:C4540434		methylenetetrahydrofolate dehydrogenase 1 deficiency|CIMAH|combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia; CIMAH	http://purl.obolibrary.org/obo/MONDO_0060611		http://identifiers.org/omim/617780|UMLS:C4540434
MONDO:0021013	trichothiodystrophy 4, nonphotosensitive	biolink:Disease	mondo	Orphanet:75790|NCIT:C146899|SCTID:403796005|OMIM:234050|DOID:0050528|ICD9:704.8|ICD9:783.43		trichothiodystrophy 4, nonphotosensitive; TTD4|MPLKIP nonphotosensitive trichothiodystrophy|nonphotosensitive trichothiodystrophy caused by mutation in MPLKIP|trichothiodystrophy-neurocutaneous syndrome|Amish brittle hair brain syndrome|BIDS syndrome|nonphotosensitive trichothiodystrophy|trichothiodystrophy, nonphotosensitive 1|Pollitt syndrome|hair-brain syndrome|TTD4|trichothiodystrophy 4, nonphotosensitive	http://purl.obolibrary.org/obo/MONDO_0021013	A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein.	http://identifiers.org/omim/234050|ORPHA:75790|SNOMEDCT:403796005|DOID:0050528|NCIT:C146899
MONDO:0008035	muscular hypoplasia, congenital universal, of Krabbe	biolink:Disease	mondo	UMLS:C1834651|MESH:C563553|OMIM:159100		muscular hypoplasia, congenital universal, of Krabbe	http://purl.obolibrary.org/obo/MONDO_0008035		http://identifiers.org/omim/159100|MESH:C563553|UMLS:C1834651
MONDO:0008036	myasthenia, limb-girdle, autoimmune	biolink:Disease	mondo	OMIM:159400|MESH:C563552|UMLS:C1834635|GARD:0008575		myasthenia gravis, limb-girdle|myasthenia, limb-girdle, autoimmune	http://purl.obolibrary.org/obo/MONDO_0008036		http://identifiers.org/omim/159400|MESH:C563552|UMLS:C1834635
MONDO:0021012	susceptibility to visceral leishmaniasis, 1	biolink:Disease	mondo	OMIM:608207	predisposition	KAZA1|kala-Azar, susceptibility to, 1; KAZA1|kala-Azar, susceptibility to, 1|leishmaniasis, visceral, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0021012		http://identifiers.org/omim/608207
HGNC:24872	GNAS-AS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24872		
MONDO:0021011	hereditary progressive chorea without dementia	biolink:Disease	mondo	OMIM:118700		chorea, benign hereditary|hereditary progressive chorea without dementia|chorea, benign hereditary; BHC|BHC|BCH	http://purl.obolibrary.org/obo/MONDO_0021011		http://identifiers.org/omim/118700
MONDO:0008033	obsolete autosomal dominant limb-girdle muscular dystrophy type 1B	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0008033	Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a variable age of onset of progressive shoulder and hip girdle weakness, with inferior limbs usually being affected prior to upper limbs, and mild joint contractures. LGMD1B is also associated with cardiac dysrhythmias, including atrioventricular conduction blocks, and late-onset dilated cardiomyopathy, that may lead to sudden death.	
MONDO:0021010	skin lymphangiosarcoma	biolink:Disease	mondo	NCIT:C4490|UMLS:C0346082|SCTID:62497000|ICD9:171.2		skin lymphangiosarcoma|lymphangiosarcoma of Stewart and Treves|lymphangiosarcoma of skin|lymphangiosarcoma of the skin|lymphangiosarcoma of Stewart and Treves	http://purl.obolibrary.org/obo/MONDO_0021010	A malignant vascular neoplasm of the skin arising from the lymphatic vessels.	SNOMEDCT:62497000|UMLS:C0346082|NCIT:C4490
MONDO:0008034	muscular dystrophy, pseudohypertrophic, with Internalized capillaries	biolink:Disease	mondo	MESH:C563554|UMLS:C1834652|OMIM:159050		muscular dystrophy, pseudohypertrophic, with Internalized capillaries	http://purl.obolibrary.org/obo/MONDO_0008034		http://identifiers.org/omim/159050|MESH:C563554|UMLS:C1834652
MONDO:0011694	spinocerebellar ataxia type 15/16	biolink:Disease	mondo	ICD10:G11.2|UMLS:C4274322|UMLS:C1847725|OMIM:606658|SCTID:716724006|DOID:0050965|Orphanet:98769|MESH:C564685|GARD:0010477	ordo_disease	spinocerebellar ataxia 15|SCA15/16|spinocerebellar ataxia type 15|SCA16 (formerly)|spinocerebellar ataxia 16, formerly|spinocerebellar ataxia 16|spinocerebellar ataxia 15; SCA15|spinocerebellar ataxia 16 (formerly)|spinocerebellar ataxia type 15/16|SCA15	http://purl.obolibrary.org/obo/MONDO_0011694	Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia, tremor and cognitive impairment.	UMLS:C1847725|UMLS:C4274322|ORPHA:98769|DOID:0050965|http://identifiers.org/omim/606658|MESH:C564685|SNOMEDCT:716724006
MONDO:0008031	facioscapulohumeral muscular dystrophy 2	biolink:Disease	mondo	DOID:0111193|OMIM:158901|UMLS:C1834671|MESH:C563557|NCIT:C172705		facioscapulohumeral muscular dystrophy type 2|SMCHD1 facioscapulohumeral muscular dystrophy|facioscapulohumeral muscular dystrophy 2|facioscapulohumeral muscular dystrophy 2; FSHD2|facioscapulohumeral muscular dystrophy 2, digenic|muscular dystrophy, facioscapulohumeral, type 2|FSHD2|Fshd2, digenic|muscular dystrophy, facioscapulohumeral, type 1B|facioscapulohumeral muscular dystrophy caused by mutation in SMCHD1	http://purl.obolibrary.org/obo/MONDO_0008031	Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the SMCHD1 gene.	DOID:0111193|MESH:C563557|NCIT:C172705|http://identifiers.org/omim/158901|UMLS:C1834671
MONDO:0011693	glaucoma, normal tension, susceptibility to	biolink:Disease	mondo	OMIM:606657	predisposition	NTG|glaucoma, normal pressure, susceptibility to|glaucoma, normal tension, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0011693		http://identifiers.org/omim/606657
MONDO:0008032	autosomal dominant limb-girdle muscular dystrophy type 1A	biolink:Disease	mondo	UMLS:C1834659|OMIM:159000|ICD10:G71.0|Orphanet:266|DOID:0110300|SCTID:719985001|MESH:C535906|GARD:0010229	ordo_disease|gard_rare	muscular dystrophy, limb-girdle, type 1A|MYOT autosomal dominant limb-girdle muscular dystrophy|muscular dystrophy limb-girdle type 1A|LGMD1A|muscular dystrophy, limb-girdle, type 1A; LGMD1A|proximal muscular dystrophy type 1A|limb-girdle muscular dystrophy type 1A|limb-girdle muscular dystrophy due to myotilin deficiency|LGMD1|autosomal dominant limb-girdle muscular dystrophy caused by mutation in MYOT|muscular dystrophy, proximal, type 1A	http://purl.obolibrary.org/obo/MONDO_0008032	Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.	SNOMEDCT:719985001|ORPHA:266|DOID:0110300|http://identifiers.org/omim/159000|MESH:C535906|UMLS:C1834659
MONDO:0011696	melanoma, uveal, susceptibility to, 2	biolink:Disease	mondo	OMIM:606661	predisposition	melanoma, uveal, susceptibility to, type 2|Uvm2|melanoma, uveal, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0011696		http://identifiers.org/omim/606661
MONDO:0011695	melanoma, uveal, susceptibility to, 1	biolink:Disease	mondo	OMIM:606660	predisposition	melanoma, uveal, susceptibility to, type 1|Uvm1|melanoma, uveal, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0011695		http://identifiers.org/omim/606660
MONDO:0008030	facioscapulohumeral muscular dystrophy 1	biolink:Disease	mondo	DOID:0111192|GARD:0009941|OMIM:158900|MESH:C536391	gard_rare	Landouzy-Dejerine muscular dystrophy facioscapulohumeral muscular dystrophy, infantile, included|facioscapulohumeral muscular dystrophy type 1|muscular dystrophy, facioscapulohumeral, type 1A|facioscapulohumeral muscular dystrophy 1; FSHD1|FSHMD1A|FSHD|facioscapulohumeral muscular dystrophy caused by mutation in FRG1|facioscapulohumeral muscular dystrophy 1A|facioscapulohumeral muscular dystrophy|muscular dystrophy, facioscapulohumeral, type 1|muscular dystrophy, facioscapulohumeral|facioscapulohumeral muscular dystrophy, infantile|Landouzy-Dejerine muscular dystrophy|FRG1 facioscapulohumeral muscular dystrophy|FSHD1|facioscapulohumeral muscular dystrophy 1|FSHD1A|facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles, included|FMD|facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles	http://purl.obolibrary.org/obo/MONDO_0008030	Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the FRG1 gene.	DOID:0111192|MESH:C536391|http://identifiers.org/omim/158900
MONDO:0011698	glycine N-methyltransferase deficiency	biolink:Disease	mondo	OMIM:606664|UMLS:C1847720|DOID:0111037|ICD10:E72.1|SCTID:763720007|GARD:0010764|Orphanet:289891	ordo_disease|gard_rare	hypermethioninemia due to GNMT deficiency|GNMT deficiency|glycine N-methyltransferase deficiency|Glycine N-methyltransferase deficiency|hypermethioninemia due to glycine N-methyltransferase deficiency	http://purl.obolibrary.org/obo/MONDO_0011698	Glycine N-methyltransferase deficiency (GNMT deficiency) is a very rare condition characterized by persistent and isolated excess levels of methionine in the blood (hypermethioninemia). The only clinical abnormalities are mild increase of the liver size (hepatomegaly) and chronic elevation of the transaminase levels in the blood without liver disease. Methionine may also be increased in urine. However, because elevated levels of methionine in the blood itself is a risk factor for development of neurological signs and symptoms, people with GNMT deficiency can have neurological problems when methionine levelsare greater than 800μmol/L. GNMT deficiency is caused by mutations in the GNMT gene. Inheritance is autosomal recessive. Treatment is not needed in most cases.	ORPHA:289891|UMLS:C1847720|SNOMEDCT:763720007|DOID:0111037|http://identifiers.org/omim/606664
MONDO:0011697	Waardenburg syndrome type 2C	biolink:Disease	mondo	UMLS:C1847722|DOID:0110951|OMIM:606662|MESH:C564684		WS2C|Waardenburg syndrome type IIC|Waardenburg syndrome, type 2C|Waardenburg syndrome, type 2C; WS2C	http://purl.obolibrary.org/obo/MONDO_0011697	A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has material basis in variation in the chromosome region 8p23.	MESH:C564684|DOID:0110951|UMLS:C1847722|http://identifiers.org/omim/606662
MONDO:0021009	salivary gland mucoepidermoid carcinoma	biolink:Disease	mondo	SCTID:423708008|NCIT:C5908|UMLS:C1335903		salivary gland mucoepidermoid carcinoma|saliva-secreting gland mucoepidermoid carcinoma|mucoepidermoid carcinoma of salivary gland|mucoepidermoid carcinoma of the salivary gland	http://purl.obolibrary.org/obo/MONDO_0021009	A carcinoma that arises from the salivary glands. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome.	SNOMEDCT:423708008|NCIT:C5908|UMLS:C1335903
MONDO:0021008	secondary antiphospholipid syndrome	biolink:Disease	mondo	SCTID:239895006|UMLS:C0409983|ICD9:795.79			http://purl.obolibrary.org/obo/MONDO_0021008	An antiphospholipid syndrome that occurs alongside another autoimmune disorder.	SNOMEDCT:239895006|UMLS:C0409983
MONDO:0011699	inflammatory bowel disease 8	biolink:Disease	mondo	MESH:C564682|OMIM:606668|DOID:0110904|UMLS:C1847719		inflammatory bowel disease 8; IBD8|inflammatory bowel disease 8|IBD8|inflammatory bowel disease type 8	http://purl.obolibrary.org/obo/MONDO_0011699	An inflammatory bowel disease that has material basis in variation in the chromosome region 16p.	MESH:C564682|DOID:0110904|UMLS:C1847719|http://identifiers.org/omim/606668
MONDO:0021007	obsolete stage of disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021007		
MONDO:0033006	Galloway-Mowat syndrome 2, X-linked	biolink:Disease	mondo	OMIM:301006|UMLS:CN570502|DOID:0080244		GAMOS2|Galloway-Mowat syndrome 2|Galloway-Mowat syndrome 2, X-linked; GAMOS2	http://purl.obolibrary.org/obo/MONDO_0033006		UMLS:CN570502|http://identifiers.org/omim/301006|DOID:0080244
MONDO:0033007	Galloway-Mowat syndrome 3	biolink:Disease	mondo	UMLS:CN570505|OMIM:617729|DOID:0080245		GAMOS3|Galloway-Mowat syndrome 3; GAMOS3	http://purl.obolibrary.org/obo/MONDO_0033007		UMLS:CN570505|http://identifiers.org/omim/617729|DOID:0080245
MONDO:0033004	polycystic kidney disease 4	biolink:Disease	mondo	OMIM:263200|DOID:0080212		PKD3, formerly|PKD3|polycystic kidney disease, infantile, type 1|polycystic kidney disease 4 with or without polycystic liver disease; PKD4|PKD4|hepatic fibrosis, congenital|polycystic kidney disease 4|polycystic kidney and hepatic disease 1|polycystic kidney disease, autosomal recessive|polycystic kidney disease 4 with or without hepatic disease	http://purl.obolibrary.org/obo/MONDO_0033004	A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene.	http://identifiers.org/omim/263200|DOID:0080212
MONDO:0033005	Galloway-Mowat syndrome 1	biolink:Disease	mondo	DOID:0060364|UMLS:CN031715|OMIM:251300		cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities|Galloway-Mowat syndrome 1; GAMOS1|GAMOS1|nephrosis-neuronal dysmigration syndrome|microcephaly, hiatal hernia, and nephrotic syndrome|spinocerebellar ataxia, autosomal recessive 5, formerly|Galloway syndrome|spinocerebellar ataxia, autosomal recessive 5|nephrosis-microcephaly syndrome|cerebellar ataxia with intellectual disability, optic atrophy, and skin abnormalities	http://purl.obolibrary.org/obo/MONDO_0033005		DOID:0060364|http://identifiers.org/omim/251300|UMLS:CN031715
MONDO:0011690	Camurati-Engelmann disease, type 2	biolink:Disease	mondo	MESH:C537978|GARD:0008748|UMLS:C2931683|OMIM:606631	speculative|n_of_one	Camurati Engelmann disease, type 2|progressive diaphyseal dysplasia with striations of the bones|Camurati-Engelmann disease, type 2|CAEND2	http://purl.obolibrary.org/obo/MONDO_0011690	Camurati-Engelmann Disease not associated with TGFB1	UMLS:C2931683|MESH:C537978|http://identifiers.org/omim/606631
MONDO:0011692	IBGC2	biolink:Disease	mondo	UMLS:C1847731|MESH:C537657|OMIM:606656		IBGC2|basal ganglia calcification, idiopathic, 2|basal ganglia calcification, idiopathic, 2; IBGC2	http://purl.obolibrary.org/obo/MONDO_0011692		UMLS:C1847731|MESH:C537657|http://identifiers.org/omim/606656
MONDO:0011691	amyotrophic lateral sclerosis type 3	biolink:Disease	mondo	DOID:0060195|OMIM:606640|GARD:0010501|MESH:C564688	gard_rare	amyotrophic lateral sclerosis 3; ALS3|ALS3|amyotrophic lateral sclerosis 3	http://purl.obolibrary.org/obo/MONDO_0011691		http://identifiers.org/omim/606640|DOID:0060195|MESH:C564688
MONDO:0023663	obsolete macrocephaly mesodermal hamartoma spectrum	biolink:Disease	mondo	UMLS:C1867610|GARD:0000170|MESH:C537716	gard_rare	Elattoproteus syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly|partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly|hemihypertrophy and macrocephaly	http://purl.obolibrary.org/obo/MONDO_0023663		UMLS:C1867610|MESH:C537716
MONDO:0033008	Galloway-Mowat syndrome 4	biolink:Disease	mondo	UMLS:CN570506|OMIM:617730|DOID:0080246		Galloway-Mowat syndrome 4; GAMOS4|GAMOS4	http://purl.obolibrary.org/obo/MONDO_0033008		UMLS:CN570506|http://identifiers.org/omim/617730|DOID:0080246
MONDO:0033009	Galloway-Mowat syndrome 5	biolink:Disease	mondo	UMLS:CN570507|OMIM:617731|DOID:0080247		Galloway-Mowat syndrome 5; GAMOS5|GAMOS5	http://purl.obolibrary.org/obo/MONDO_0033009		UMLS:CN570507|http://identifiers.org/omim/617731|DOID:0080247
MONDO:0021005	faciodigitogenital syndrome	biolink:Disease	mondo	MedDRA:10067148|ICD10:Q87.1		faciogenital dysplasia|Aarskog syndrome|Aarskog-Scott syndrome	http://purl.obolibrary.org/obo/MONDO_0021005	A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. This includes X-linked, AR and AD forms of Aarskog syndrome.	UMLS:C0175701|MEDDRA:10067148
MONDO:0011679	craniosynostosis syndrome, autosomal recessive	biolink:Disease	mondo	MESH:C564700|UMLS:C1847865|OMIM:606529		craniosynostosis syndrome, autosomal recessive|craniosynostosis, autosomal recessive|autosomal recessive craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0011679	Autosomal recessive form of craniosynostosis.	http://identifiers.org/omim/606529|MESH:C564700|UMLS:C1847865
MONDO:0008048	autosomal dominant centronuclear myopathy	biolink:Disease	mondo	Orphanet:169189|SCTID:716696006|DOID:0111217|ICD10:G71.2|GARD:0012719|UMLS:C1834558|OMIM:160150|NCIT:C126689	prototype_pattern|ordo_disease|gard_rare	DNM2-related centronuclear myopathy|centronuclear myopathy, autosomal dominant|myopathy, centronuclear, 1|CNM1|myopathy, centronuclear, 1; CNM1|AD-CNM|myopathy, centronuclear, autosomal dominant|myopathy, centronuclear, type 1|centronuclear myopathy 1|myotubular myopathy, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008048	Autosomal dominant centronuclear myopathy (AD-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.	DOID:0111217|ORPHA:169189|NCIT:C126689|http://identifiers.org/omim/160150|UMLS:C1834558|SNOMEDCT:716696006
MONDO:0021004	brachydactyly (disease)	biolink:Disease	mondo	HP:0001156|DOID:0050581|MESH:D059327		brachydactyly	http://purl.obolibrary.org/obo/MONDO_0021004	A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms.	DOID:0050581|MESH:D059327
MONDO:0021003	polydactyly (disease)	biolink:Disease	mondo	OMIM:603596|COHD:74740|ICD10:Q69.2|ICD10:Q69|ICD10:Q69.1|ICD10:Q69.9|HP:0010442|ICD10:Q69.0|NCIT:C87110|ICD9:755.0|SCTID:367506006|MedDRA:10036063|DOID:1148|ICD9:755.00		polydactylism|postaxial polydactyly|polydactyly|hyperdactyly|supernumerary digit	http://purl.obolibrary.org/obo/MONDO_0021003	A disease characterized by the presence of polydactyly, including syndromic and non-syndromic forms.	NCIT:C87110|DOID:1148|http://identifiers.org/omim/603596|SNOMEDCT:367506006
MONDO:0008049	myopathy, distal, infantile-onset	biolink:Disease	mondo	UMLS:C4011725|UMLS:C1834556|DOID:0070196|OMIM:160300		myopathy, distal, infantile-onset	http://purl.obolibrary.org/obo/MONDO_0008049		DOID:0070196|UMLS:C4011725|UMLS:C1834556|http://identifiers.org/omim/160300
MONDO:0008046	autosomal dominant myoglobinuria	biolink:Disease	mondo	SCTID:725903003|ICD10:R82.1|OMIM:160010|MESH:C563546|Orphanet:99846|UMLS:C1834567	ordo_disease	myoglobinuria, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008046	Autosomal dominant myoglobinuria is a rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997.	ORPHA:99846|MESH:C563546|http://identifiers.org/omim/160010|UMLS:C1834567|SNOMEDCT:725903003
MONDO:0021002	syndactyly (disease)	biolink:Disease	mondo	HP:0001159|ICD9:755.1|ICD10:Q70.4|ICD10:Q70.3|ICD10:Q70.2|ICD10:Q70.1|MedDRA:10042778|ICD10:Q70.0|ICD10:Q70.9|ICD10:Q70|DOID:11193			http://purl.obolibrary.org/obo/MONDO_0021002	A disease characterized by the presence of syndactyly, including syndromic and non-syndromic forms.	DOID:11193
MONDO:0021001	hemochromatosis type 1	biolink:Disease	mondo	NCIT:C84764|EFO:0006513|DOID:0111029|Orphanet:465508|GARD:0010417|ICD9:275.01|OMIM:235200|ICD10:E83.1|UMLS:CN242134	ordo_disease	HFE1|hemochromatosis, type 1|HFE-related hemochromatosis|symptomatic form of classic hemochromatosis|symptomatic form of HFE-related hereditary hemochromatosis|hemochromatosis, type 1; HFE1|classic hemochromatosis|C282Y/C282Y hemochromatosis|symptomatic form of hemochromatosis type 1|HFE-associated hereditary hemochromatosis	http://purl.obolibrary.org/obo/MONDO_0021001	Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease	http://identifiers.org/omim/235200|NCIT:C84764|UMLS:CN242134|DOID:0111029|ORPHA:465508
MONDO:0008047	episodic ataxia type 1	biolink:Disease	mondo	OMIM:160120|SCTID:421182009|Orphanet:37612|UMLS:C1719788|ICD10:G11.8|UMLS:CN042654|DOID:0050989	ordo_disease	EA1|ataxia, episodic, with myokymia|Isaacs-Mertens syndrome|myokymia 1 with or without hypomagnesemia|continuous muscle fiber activity, hereditary|hereditary paroxysmal ataxia with neuromyotonia|acetazolamide-responsive periodic ataxia|continuous muscle fiber activity|KCNA1 hereditary episodic ataxia|myokymia with periodic ataxia|familial paroxysmal kinesigenic ataxia and continuous myokymia|paroxysmal ataxia with neuromyotonia, hereditary|episodic ataxia, type 1|myokymia 1|hereditary episodic ataxia caused by mutation in KCNA1|episodic ataxia, type 1; EA1|episodic ataxia with myokymia	http://purl.obolibrary.org/obo/MONDO_0008047	Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.	SNOMEDCT:421182009|UMLS:C1719788|DOID:0050989|UMLS:CN042654|ORPHA:37612|http://identifiers.org/omim/160120
MONDO:0008044	myoclonic dystonia 11	biolink:Disease	mondo	ICD10:G24.1|DOID:0090034|OMIM:159900	ordo_disease	myoclonus-dystonia syndrome|myoclonus-dystonia syndrome caused by mutation in SGCE|DYT11|dystonia 11, myoclonic; DYT11|alcohol-responsive dystonia|dystonia 11, myoclonic|myoclonic dystonia|SGCE myoclonus-dystonia syndrome|myoclonus, hereditary essential|dystonia, alcohol-responsive|myoclonic dystonia type 11	http://purl.obolibrary.org/obo/MONDO_0008044	Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the SGCE gene.	DOID:0090034|http://identifiers.org/omim/159900
MONDO:0008045	spinal muscular atrophy-progressive myoclonic epilepsy syndrome	biolink:Disease	mondo	OMIM:159950|Orphanet:2590|ICD9:345.10|DOID:0111527|UMLS:C1834569|GARD:0003044|MESH:C537563|ICD10:G25.3|SCTID:703524005|GARD:0003875	ordo_disease|gard_rare	hereditary myoclonus and progressive distal muscular atrophy|myoclonus, hereditary, with progressive distal muscular atrophy|Jankovic Rivera syndrome|spinal muscular atrophy with progressive myoclonic epilepsy|SMAPME|Jankovic-Rivera syndrome|spinal muscular atrophy with progressive myoclonic epilepsy; SMAPME|hereditary myoclonus-progressive distal muscular atrophy syndrome|myoclonus hereditary progressive distal muscular atrophy	http://purl.obolibrary.org/obo/MONDO_0008045	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.	ORPHA:2590|MESH:C537563|SNOMEDCT:703524005|DOID:0111527|http://identifiers.org/omim/159950|UMLS:C1834569
GO:1904057	negative regulation of sensory perception of pain	biolink:OntologyClass	mondo			downregulation of sensory perception of pain|down regulation of perception of physiological pain|down regulation of nociception|down-regulation of perception of physiological pain|negative regulation of perception of physiological pain|inhibition of nociception|down regulation of sensory perception of pain|downregulation of nociception|inhibition of sensory perception of pain|down-regulation of sensory perception of pain|inhibition of perception of physiological pain|downregulation of perception of physiological pain|down-regulation of nociception|negative regulation of nociception	http://purl.obolibrary.org/obo/GO_1904057	Any process that stops, prevents or reduces the frequency, rate or extent of sensory perception of pain.	
MONDO:0011683	oculocutaneous albinism type 4	biolink:Disease	mondo	DOID:0070098|Orphanet:79435|OMIM:606574|SCTID:715632003|ICD10:E70.3|MESH:C564696|UMLS:C1847836	ordo_disease	albinism, oculocutaneous, type IV; OCA4|SLC45A2 oculocutaneous albinism|albinism, oculocutaneous, type IV|oculocutaneous albinism caused by mutation in SLC45A2|oculocutaneous albinism, type 4|OCA4|oculocutaneous albinism type IV|albinism, oculocutaneous, type 4	http://purl.obolibrary.org/obo/MONDO_0011683	Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.	MESH:C564696|ORPHA:79435|SNOMEDCT:715632003|DOID:0070098|UMLS:C1847836|http://identifiers.org/omim/606574
MONDO:0008042	myoclonus and ataxia	biolink:Disease	mondo	UMLS:C1834580|GARD:0009256|OMIM:159700	speculative	dyssynergia cerebellaris myoclonica|progressive myoclonus ataxia|Ramsay Hunt syndrome type 1|myoclonus and ataxia|Ramsay Hunt syndrome|dentatorubral atrophy|dentate cerebellar ataxia|Ramsay Hunt syndrome type 1 (formerly)|dyssynergia cerebellaris progressiva|primary dentatum atrophy	http://purl.obolibrary.org/obo/MONDO_0008042		http://identifiers.org/omim/159700|UMLS:C1834580
MONDO:0033010	erythrokeratodermia variabilis et progressiva 1	biolink:Disease	mondo	OMIM:133200|DOID:0111195		keratosis palmoplantaris transgrediens Et progrediens|erythrokeratodermia variabilis with erythema Gyratum Repens|erythrokeratodermia variabilis ET progressiva 1; EKVP1|erythrokeratodermia Figurata, congenital familial, in plaques|Greither disease|EKVP1|erythrokeratodermia variabilis Et progressiva|erythrokeratodermia variabilis|erythrokeratodermia, progressive symmetric	http://purl.obolibrary.org/obo/MONDO_0033010		http://identifiers.org/omim/133200|DOID:0111195
MONDO:0011682	episodic ataxia type 3	biolink:Disease	mondo	DOID:0050991|ICD10:G11.8|Orphanet:79135|UMLS:C1847839|MESH:C564697|SCTID:718755009|OMIM:606554	ordo_disease	EA3|episodic ataxia, type 3|episodic ataxia, type 3; EA3|ataxia, episodic, with vertigo and tinnitus|episodic ataxia-vertigo-tinnitus-myokymia syndrome	http://purl.obolibrary.org/obo/MONDO_0011682	Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia.	MESH:C564697|UMLS:C1847839|http://identifiers.org/omim/606554|DOID:0050991|ORPHA:79135|SNOMEDCT:718755009
MONDO:0008043	myoclonus-cerebellar ataxia-deafness syndrome	biolink:Disease	mondo	ICD10:G11.1|OMIM:159800|MESH:C563549|GARD:0003873|Orphanet:2589|UMLS:C1834579	ordo_malformation_syndrome	myoclonus, cerebellar ataxia, and deafness|myoclonus cerebellar ataxia deafness	http://purl.obolibrary.org/obo/MONDO_0008043	This syndrome is characterised by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss.	MESH:C563549|http://identifiers.org/omim/159800|UMLS:C1834579|ORPHA:2589
MONDO:0008040	transient myeloproliferative syndrome (disease)	biolink:Disease	mondo	NCIT:C82339|MESH:C563551|UMLS:C1834582|ICD10:D47.7|SCTID:721307000|OMIM:159595|Orphanet:420611|HP:0005534|ONCOTREE:TAM|GARD:0012765|DOID:0060888|ICDO:9898/1	ordo_disease	leukemia, transient|transient myeloproliferative disease|transient leurkemia of Down syndrome|myeloproliferative syndrome, transient|Transient abnormal myelopoiesis associated with Down syndrome|transient leukemia|TMD|Mst|transient myeloproliferative disorder|TAM|transient myeloproliferative syndrome|transient abnormal myelopoiesis|Transient abnormal myelopoiesis associated with Down syndrome|MST	http://purl.obolibrary.org/obo/MONDO_0008040	A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission.	MESH:C563551|http://identifiers.org/omim/159595|DOID:0060888|ORPHA:420611|UMLS:C1834582|SNOMEDCT:721307000|NCIT:C82339
MONDO:0011685	polysubstance abuse, susceptibility to	biolink:Disease	mondo	OMIM:606581	predisposition	polysubstance abuse, susceptibility to|drug addiction, susceptibility to|PSAB|polysubstance abuse, susceptibility to; PSAB	http://purl.obolibrary.org/obo/MONDO_0011685		http://identifiers.org/omim/606581
MONDO:0011684	vitiligo-associated multiple autoimmune disease susceptibility 1	biolink:Disease	mondo	OMIM:606579|UMLS:C1847835|Orphanet:247871	predisposition	vitiligo|vitiligo-associated multiple autoimmune disease susceptibility type 1|systemic lupus erythematosus, vitiligo-related|vitiligo-associated multiple autoimmune disease susceptibility 1; VAMAS1|VAMAS1|vitiligo-associated multiple autoimmune disease susceptibility 1	http://purl.obolibrary.org/obo/MONDO_0011684		ORPHA:247871|UMLS:C1847835|http://identifiers.org/omim/606579
MONDO:0008041	myoclonic epilepsy, Hartung type	biolink:Disease	mondo	MESH:C563550|UMLS:C1834581|OMIM:159600		myoclonic epilepsy, Hartung type	http://purl.obolibrary.org/obo/MONDO_0008041		MESH:C563550|http://identifiers.org/omim/159600|UMLS:C1834581
MONDO:0011687	Charcot-Marie-Tooth disease axonal type 2F	biolink:Disease	mondo	UMLS:C1847823|OMIM:606595|Orphanet:99940|DOID:0110163|UMLS:C4304675|SCTID:719510006|GARD:0009194|ICD10:G60.0|MESH:C535413	ordo_disease|gard_rare	Charcot-Marie-Tooth disease, axonal, type 2F|Charcot-Marie-Tooth disease, axonal, type 2F; CMT2F|HSPB1 Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease, neuronal, type 2F|autosomal dominant Charcot-Marie-Tooth disease type 2F|Charcot-Marie-Tooth disease type 2F|Charcot-Marie-Tooth neuronal type 2F|CMT2F|Charcot-Marie-Tooth neuropathy, type 2F|CMT 2F|Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB1|Charcot Marie Tooth disease type 2F|Charcot-Marie-Tooth neuropathy type 2F	http://purl.obolibrary.org/obo/MONDO_0011687	Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.	DOID:0110163|http://identifiers.org/omim/606595|MESH:C535413|UMLS:C1847823|SNOMEDCT:719510006|ORPHA:99940|UMLS:C4304675
MONDO:0011686	DNA ligase IV deficiency	biolink:Disease	mondo	MESH:C564694|SCTID:724177005|DOID:0060021|NCIT:C122657|UMLS:C1847827|OMIM:606593|Orphanet:99812|ICD10:D81.1	ordo_disease	DNA ligase IV deficiency|LIG4 syndrome|ligase 4 syndrome	http://purl.obolibrary.org/obo/MONDO_0011686	LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).	http://identifiers.org/omim/606593|DOID:0060021|SNOMEDCT:724177005|MESH:C564694|UMLS:C1847827|NCIT:C122657|ORPHA:99812
MONDO:0011689	dyslexia, susceptibility to, 6	biolink:Disease	mondo	OMIM:606616	predisposition	dyslexia, susceptibility to, 6; DYX6|dyslexia, susceptibility to, 6|DYX6	http://purl.obolibrary.org/obo/MONDO_0011689		http://identifiers.org/omim/606616
MONDO:0011688	muscular dystrophy-dystroglycanopathy type B5	biolink:Disease	mondo	DOID:0110635|UMLS:C1847759|MESH:C564691|Orphanet:52428|ICD10:G71.2|OMIM:606612		muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5; MDDGB5|MDC1C|muscular dystrophy-dystroglycanopathy (congenital with or without intellectual disability), type B, 5|FKRP-related congenital muscular dystrophy|muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5|muscular dystrophy, congenital, 1C|muscular dystrophy, congenital, FKRP-related|congenital muscular dystrophy 1C|muscular dystrophy-dystroglycanopathy (congenital with or without intellectual disability), type B, 5; MDDGB5|MDDGB5	http://purl.obolibrary.org/obo/MONDO_0011688	A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3.	http://identifiers.org/omim/606612|MESH:C564691|DOID:0110635|ORPHA:52428|UMLS:C1847759
MONDO:0033015	erythrokeratodermia variabilis et progressiva 5	biolink:Disease	mondo	DOID:0080251|OMIM:617756		erythrokeratodermia variabilis ET progressiva 5; EKVP5|EKVP5	http://purl.obolibrary.org/obo/MONDO_0033015		http://identifiers.org/omim/617756|DOID:0080251
MONDO:0033013	erythrokeratodermia variabilis et progressiva 3	biolink:Disease	mondo	UMLS:C4479619|OMIM:617525|DOID:0080249		erythrokeratodermia variabilis ET progressiva 3; EKVP3|EKVP3	http://purl.obolibrary.org/obo/MONDO_0033013		http://identifiers.org/omim/617525|DOID:0080249|UMLS:C4479619
MONDO:0033014	erythrokeratodermia variabilis et progressiva 4	biolink:Disease	mondo	DOID:0080250|OMIM:617526|UMLS:C4479620		erythrokeratodermia variabilis ET progressiva 4; EKVP4|EKVP4	http://purl.obolibrary.org/obo/MONDO_0033014		http://identifiers.org/omim/617526|DOID:0080250|UMLS:C4479620
MONDO:0011681	episodic ataxia type 4	biolink:Disease	mondo	OMIM:606552|Orphanet:79136|ICD10:G11.8|MESH:C564698|SCTID:718754008|DOID:0050992|UMLS:C1847843	ordo_disease	periodic vestibulocerebellar ataxia|episodic ataxia, type 4|ataxia, periodic vestibulocerebellar|EA4|episodic ataxia, type 4; EA4|PATX	http://purl.obolibrary.org/obo/MONDO_0011681	Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia.	SNOMEDCT:718754008|UMLS:C1847843|ORPHA:79136|http://identifiers.org/omim/606552|DOID:0050992|MESH:C564698
MONDO:0033012	erythrokeratodermia variabilis et progressiva 2	biolink:Disease	mondo	UMLS:C4479618|OMIM:617524|DOID:0080248		erythrokeratodermia variabilis ET progressiva 2; EKVP2|EKVP2	http://purl.obolibrary.org/obo/MONDO_0033012		http://identifiers.org/omim/617524|DOID:0080248|UMLS:C4479618
MONDO:0011680	autosomal recessive congenital ichthyosis 3	biolink:Disease	mondo	OMIM:606545|ICD10:Q80.2|DOID:0060711		collodion baby, self-healing|ichthyosis, lamellar, 5, formerly|ichthyosis, congenital, autosomal recessive 3|autosomal recessive congenital ichthyosis type 3|ichthyosis, lamellar, 5|lamellar ichthyosis 5|ARCI3|ichthyosis, congenital, autosomal recessive type 3|ichthyosis, congenital, autosomal recessive 3; ARCI3	http://purl.obolibrary.org/obo/MONDO_0011680	Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ALOXE3 gene.	DOID:0060711|http://identifiers.org/omim/606545
MONDO:0023650	littoral cell angioma of the spleen	biolink:Disease	mondo	GARD:0009714|UMLS:C1627365|MESH:C537031|SCTID:418040002	gard_rare	littoral cell angioma	http://purl.obolibrary.org/obo/MONDO_0023650	Littoral cell angioma is a rare primary vascular neoplasm of the spleen, composed of littoral cells that line the splenic sinuses of the red pulp. It was thought to be a benign, incidental lesion. However, many recent reports have described it to be a malignant lesion with congenital and immunological associations. The definitive diagnosis can only be made after histology and immunohistochemistry studies.	UMLS:C1627365|MESH:C537031|SNOMEDCT:418040002
HGNC:24858	MFF	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24858		
MONDO:0008019	mullerian aplasia and hyperandrogenism	biolink:Disease	mondo	MESH:C567186|ICD10:Q51.8|NCIT:C120376|OMIM:158330|UMLS:C2675014|DOID:0111526|Orphanet:247768	ordo_malformation_syndrome	mullerian aplasia and hyperandrogenism|Müllerian aplasia and hyperandrogenism|Mullerian duct failure and hyperandrogenism|WNT4 deficiency|Müllerian duct failure and hyperandrogenism	http://purl.obolibrary.org/obo/MONDO_0008019	Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina.	http://identifiers.org/omim/158330|ORPHA:247768|MESH:C567186|UMLS:C2675014|NCIT:C120376|DOID:0111526
MONDO:0008017	hereditary mucoepithelial dysplasia	biolink:Disease	mondo	SCTID:403442005|OMIM:158310|Orphanet:1839|ICD9:478.79|GARD:0005427|MESH:C536476	ordo_malformation_syndrome|gard_rare	Urban-Schosser-Spohn syndrome|mucoepithelial dysplasia, hereditary|Hmd	http://purl.obolibrary.org/obo/MONDO_0008017	Hereditary mucoepithelial dysplasia (HMD) is a condition that affects the skin, hair, mucosa (areas ofthe body that are lined with mucus), gums (gingiva), eyes, nose and lungs. Symptoms typically begin in infancy and may include development of cataracts (clouding of the eye lens); blindness; hair loss (alopecia); abnormal changes to the perineum (the area between the anus and external genitalia); and small, skin-colored bumps (keratosis pilaris). Terminal lung disease has also been reported. The cause of HMD is thought to be an abnormality in desmosomes and gap junctions, which are structures involved in cell-to-cell contact. HMD typically follows autosomal dominant inheritance, but has occurred sporadically (in an individual who has no family history of the condition). Treatment typically focuses on individual symptoms of the condition.	SNOMEDCT:403442005|ORPHA:1839|MESH:C536476|http://identifiers.org/omim/158310
MONDO:0011669	hypotonia-cystinuria syndrome	biolink:Disease	mondo	MESH:C564710|ICD10:E72.0|OMIM:606407|Orphanet:163690|SCTID:721173005|DOID:0060858|EFO:0007550	ordo_disease	homozygous 2P16 deletion syndrome, formerly|homozygous 2P16 deletion syndrome|cystinuria with mitochondrial disease|hypotonia-cystinuria syndrome|homozygous 2P21 deletion syndrome|HCS	http://purl.obolibrary.org/obo/MONDO_0011669	Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.	http://identifiers.org/omim/606407|ORPHA:163690|MESH:C564710|DOID:0060858|SNOMEDCT:721173005
MONDO:0011668	maturity-onset diabetes of the young type 6	biolink:Disease	mondo	SCTID:609573005|GARD:0010660|MESH:C565231|DOID:0111104|UMLS:C1853371|NCIT:C129745|OMIM:606394	gard_rare	NEUROD1 maturity-onset diabetes of the young (disease)|diabetes mellitus MODY type 6|MODY, type 6|neurogenic differentiation Factor 1-associated monogenic diabetes|type 6 maturity-onset diabetes of the young|maturity onset diabetes of the Young, type 6|MODY type 6|NEUROD1-associated monogenic diabetes|maturity-onset diabetes of the young (disease) caused by mutation in NEUROD1|maturity-onset diabetes of the young, type 6; MODY6|maturity-onset diabetes of the young, type 6|MODY6|MODY NEUROD1 related	http://purl.obolibrary.org/obo/MONDO_0011668	Monogenic diabetes caused by inactivating mutation(s) in the gene NEUROD1, encoding neurogenic differentiation 1. In addition to diabetes, this condition may be associated with neurogenic anomalies. Homozygous NEUROD1 mutations result in permanent neonatal diabetes.	NCIT:C129745|DOID:0111104|MESH:C565231|http://identifiers.org/omim/606394|UMLS:C1853371|SNOMEDCT:609573005
MONDO:0008018	Muir-Torre syndrome	biolink:Disease	mondo	MESH:D055653|GARD:0006821|ICD10:L72.8|NCIT:C84905|SCTID:403824007|Orphanet:587|OMIM:158320|UMLS:C1321489|MedDRA:10063042|DOID:0050465	ordo_clinical_subtype	cutaneous sebaceous neoplasms and keratoacanthomas, multiple, with gastrointestinal and Other carcinomas|MRTES|cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas|multiple keratoacanthoma, Muir-Torre type|MUIR-Torre syndrome; MRTES|Muir-Torre syndrome	http://purl.obolibrary.org/obo/MONDO_0008018	Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma.	NCIT:C84905|UMLS:C1321489|MESH:D055653|MEDDRA:10063042|DOID:0050465|ORPHA:587|SNOMEDCT:403824007|http://identifiers.org/omim/158320
MONDO:0008015	motion sickness	biolink:Disease	mondo	UMLS:C0026603|EFO:0006928|ICD10:T75.3|DOID:2951|OMIM:158280|ICD9:994.6|MESH:D009041|COHD:30284		motion sickness|travel sickness	http://purl.obolibrary.org/obo/MONDO_0008015	A sensation of discomfort that results from a discordant relationship between visualized movement and any movement sensed by the vestibular system, which is characterized by dizziness, nausea, and vomiting.	MESH:D009041|UMLS:C0026603|NCIT:C34824|http://identifiers.org/omim/158280|DOID:2951
MONDO:0045008	cholesterol metabolism disease	biolink:Disease	mondo	UMLS:C0342877|SCTID:123963007		cholesterol metabolic process disease|cholesterol metabolism disease|disorder of cholesterol metabolism|disorder of cholesterol metabolic process|disorder of cholesterol metabolic process	http://purl.obolibrary.org/obo/MONDO_0045008	A disease that has its basis in the disruption of cholesterol metabolic process.	UMLS:C0342877|SNOMEDCT:123963007
MONDO:0008016	trismus-pseudocamptodactyly syndrome	biolink:Disease	mondo	OMIM:158300|Orphanet:3377|SCTID:8757006|MESH:C535857|ICD10:Q68.8|GARD:0002621|ICD9:759.89|UMLS:C0265226	ordo_malformation_syndrome	trismus-pseudocamptodactyly syndrome|Hecht-Beals syndrome|mouth, inability to open completely, and short finger-flexor tendons|DA7|distal arthrogryposis type 7|Dutch-Kentucky syndrome|arthrogryposis, distal, type 7; DA7|Hecht syndrome|arthrogryposis, distal, type 7|arthrogryposis distal type 7	http://purl.obolibrary.org/obo/MONDO_0008016		ORPHA:3377|UMLS:C0265226|SNOMEDCT:8757006|MESH:C535857|http://identifiers.org/omim/158300
MONDO:0008013	chromosome 9p deletion syndrome	biolink:Disease	mondo	ICD10:Q93.5|OMIM:158170|DOID:0060732|Orphanet:261112|GARD:0003773|ICD9:758.39|SCTID:62599000|MESH:C538024	ordo_malformation_syndrome	chromosome 9p deletion syndrome|9p- syndrome|9p syndrome|9p deletion syndrome|deletion 9p|monosomy 9P syndrome|9p deletion|monosomy 9p|9p monosomy|monosomy 9p syndrome|Alfi syndrome|chromosome 9p deletion|partial monosomy 9p|monosomy type 9p	http://purl.obolibrary.org/obo/MONDO_0008013	Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.	ORPHA:261112|MESH:C538024|UMLS:C0795830|UMLS:C0265425|http://identifiers.org/omim/158170|DOID:0060732|SNOMEDCT:62599000
MONDO:0045002	vertebral disease	biolink:Disease	mondo	UMLS:C2316319|SCTID:430886005		vertebra disease or disorder|vertebra disease|disease of vertebra|disease or disorder of vertebra|disorder of vertebra|disorder of vertebra	http://purl.obolibrary.org/obo/MONDO_0045002	A disease or disorder that involves the vertebra.	SNOMEDCT:430886005|UMLS:C2316319
MONDO:0060631	Alkuraya-Kucinskas syndrome	biolink:Disease	mondo	UMLS:CN737163|OMIM:617822|DOID:0111555		Alkuraya-Kucinskas syndrome; ALKKUCS|ALKKUCS	http://purl.obolibrary.org/obo/MONDO_0060631		UMLS:CN737163|DOID:0111555|http://identifiers.org/omim/617822
MONDO:0008014	nondisjunction	biolink:Disease	mondo	OMIM:158250|UMLS:C1834741		mosaicism, chromosomal|nondisjunction|mixoploidy, familial	http://purl.obolibrary.org/obo/MONDO_0008014		UMLS:C1834741|http://identifiers.org/omim/158250
MONDO:0045001	cardiac ventricle disease	biolink:Disease	mondo	SCTID:415991003|UMLS:C1562298		disease or disorder of cardiac ventricle|cardiac ventricle disease or disorder|cardiac ventricle disease|disease of cardiac ventricle|disorder of cardiac ventricle|disorder of cardiac ventricle	http://purl.obolibrary.org/obo/MONDO_0045001	A disease or disorder that involves the cardiac ventricle.	UMLS:C1562298|SNOMEDCT:415991003
MONDO:0045004	skeletal ligament disease	biolink:Disease	mondo			disease or disorder of skeletal ligament|skeletal ligament disease or disorder|disease of skeletal ligament|disorder of skeletal ligament|disorder of skeletal ligament	http://purl.obolibrary.org/obo/MONDO_0045004	A disease or disorder that involves the skeletal ligament.	
MONDO:0008011	antigen defined by monoclonal antibody T87	biolink:Disease	mondo	OMIM:158040		antigen defined by monoclonal antibody T87|Msk2	http://purl.obolibrary.org/obo/MONDO_0008011		http://identifiers.org/omim/158040
MONDO:0045003	scrotal disease	biolink:Disease	mondo	SCTID:49701002|UMLS:C0268919		scrotum disease|disease of scrotum|disorder of scrotum|disorder of scrotum|disease or disorder of scrotum|scrotum disease or disorder	http://purl.obolibrary.org/obo/MONDO_0045003	A disease or disorder that involves the scrotum.	SNOMEDCT:49701002|UMLS:C0268919
MONDO:0008012	Monophalangy of great toe	biolink:Disease	mondo	UMLS:C1834753|OMIM:158100|MESH:C563570		Monophalangy of great toe	http://purl.obolibrary.org/obo/MONDO_0008012		UMLS:C1834753|http://identifiers.org/omim/158100|MESH:C563570
GO:1904058	positive regulation of sensory perception of pain	biolink:OntologyClass	mondo			up-regulation of sensory perception of pain|activation of sensory perception of pain|activation of perception of physiological pain|upregulation of perception of physiological pain|up-regulation of nociception|upregulation of sensory perception of pain|up regulation of nociception|positive regulation of perception of physiological pain|positive regulation of nociception|activation of nociception|up regulation of perception of physiological pain|up-regulation of perception of physiological pain|up regulation of sensory perception of pain|upregulation of nociception	http://purl.obolibrary.org/obo/GO_1904058	Any process that activates or increases the frequency, rate or extent of sensory perception of pain.	
MONDO:0011672	persistent polyclonal B-cell lymphocytosis	biolink:Disease	mondo	Orphanet:300324|MESH:C564707|UMLS:C1847973|SCTID:763864008|ICD10:I72.8|OMIM:606445	ordo_disease	persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes|PPBL|persistent polyclonal B-cell lymphocytosis|persistent polyclonal B-cell lymphocytosis; PPBL	http://purl.obolibrary.org/obo/MONDO_0011672	Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly.	MESH:C564707|ORPHA:300324|UMLS:C1847973|SNOMEDCT:763864008|http://identifiers.org/omim/606445
MONDO:0011671	Huntington disease-like 2	biolink:Disease	mondo	MESH:C564708|ICD10:G10|UMLS:C1847987|Orphanet:98934|OMIM:606438|DOID:0090104|SCTID:721228006	ordo_disease	Huntington disease-like 2|Huntington's disease-like 2|HDL2|Huntington disease-like 2; HDL2|Huntington disease-like type 2	http://purl.obolibrary.org/obo/MONDO_0011671	Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes characterized by a triad of movement, psychiatric, and cognitive abnormalities.	MESH:C564708|UMLS:C1847987|SNOMEDCT:721228006|http://identifiers.org/omim/606438|ORPHA:98934|DOID:0090104
HGNC:12874	ZIC3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12874		
MONDO:0008010	antigen defined by monoclonal antibody Aj9	biolink:Disease	mondo	OMIM:158030		antigen defined by monoclonal antibody Aj9|Msk1	http://purl.obolibrary.org/obo/MONDO_0008010		http://identifiers.org/omim/158030
MONDO:0011674	Charcot-Marie-Tooth disease dominant intermediate b	biolink:Disease	mondo	Orphanet:100044|UMLS:CN197338|DOID:0110197|SCTID:765745007|OMIM:606482|ICD10:G60.0|GARD:0012438	ordo_disease	Charcot-Marie-Tooth disease, dominant intermediate B|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2M|CMTDIB|Charcot-Marie-Tooth neuropathy, axonal, type 2M|Charcot-Marie-Tooth disease, dominant intermediate B; CMTDIB|Charcot-Marie-Tooth disease, dominant Intermediate B, with neutropenia|Charcot-Marie-Tooth neuropathy, dominant Intermediate B|autosomal dominant intermediate Charcot-Marie-Tooth disease type B|Charcot-Marie-Tooth disease dominant intermediate type B|Charcot-Marie-Tooth disease, dominant Intermediate type B|DI-CMTB|CMTDI1|DNM2-related intermediate Charcot-Marie-Tooth neuropathy|Charcot-Marie-Tooth disease, axonal, type 2M|Cmtdi1|Di-CMTB|Charcot-Marie-Tooth neuropathy, dominant Intermediate B, with neutropenia|DNM2 Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease caused by mutation in DNM2|Charcot-Marie-Tooth neuropathy dominant intermediate B	http://purl.obolibrary.org/obo/MONDO_0011674	Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.	DOID:0110197|http://identifiers.org/omim/606482|UMLS:CN197338|ORPHA:100044|SNOMEDCT:765745007
HGNC:12873	ZIC2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12873		
MONDO:0011673	autosomal dominant nonsyndromic deafness 30	biolink:Disease	mondo	UMLS:C1847972|MESH:C564706|ICD10:H90.3|DOID:0110560|OMIM:606451		autosomal dominant nonsyndromic deafness type 30|autosomal dominant deafness 30|DFNA30|deafness, autosomal dominant 30|deafness, autosomal dominant 30; DFNA30	http://purl.obolibrary.org/obo/MONDO_0011673	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 15q25-q26.	http://identifiers.org/omim/606451|DOID:0110560|MESH:C564706|UMLS:C1847972
HGNC:12872	ZIC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12872		
MONDO:0011676	PHACE syndrome	biolink:Disease	mondo	MedDRA:10068032|UMLS:C1847874|GARD:0008338|OMIM:606519|Orphanet:42775|ICD10:Q28.8	ordo_malformation_syndrome	Phaces association|Posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities|aortic aneurysm, giant congenital|pascual-Castroviejo type II syndrome|P-CIIS|pascual-Castroviejo syndrome type 2|PHACE association	http://purl.obolibrary.org/obo/MONDO_0011676	PHACE is an acronym used to describe a syndrome characterised by the association of posterior fossa brain malformations, large facial haemangiomas, anatomical anomalies of the cerebral arteries, aortic coarctation and other cardiac anomalies, and eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery.	http://identifiers.org/omim/606519|ORPHA:42775|MEDDRA:10068032|UMLS:C1847874|UMLS:C2242617
GO:1904064	positive regulation of cation transmembrane transport	biolink:OntologyClass	mondo			upregulation of cation transmembrane transport|up regulation of cation transmembrane transport|up-regulation of cation transmembrane transport|activation of cation transmembrane transport	http://purl.obolibrary.org/obo/GO_1904064	Any process that activates or increases the frequency, rate or extent of cation transmembrane transport.	
MONDO:0011675	Charcot-Marie-Tooth disease dominant intermediate a	biolink:Disease	mondo	GARD:0012437|DOID:0110202|OMIM:606483|MESH:C564702|Orphanet:100043|ICD10:G60.0|UMLS:C1847896|SCTID:765744006	ordo_disease	Charcot-Marie-Tooth disease dominant intermediate type A|Charcot-Marie-Tooth disease, dominant intermediate A|Charcot-Marie-Tooth neuropathy dominant intermediate A|Charcot-Marie-Tooth neuropathy, dominant Intermediate a|Charcot-Marie-Tooth disease, dominant intermediate A; CMTDIA|CMTDIA|Di-Cmta|autosomal dominant intermediate Charcot-Marie-Tooth disease type A|DI-CMTA	http://purl.obolibrary.org/obo/MONDO_0011675	Autosomal dominant intermediate Charcot-Marie-Tooth disease type A is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards.	http://identifiers.org/omim/606483|DOID:0110202|SNOMEDCT:765744006|MESH:C564702|ORPHA:100043|UMLS:C1847896
GO:1904063	negative regulation of cation transmembrane transport	biolink:OntologyClass	mondo			inhibition of cation transmembrane transport|down-regulation of cation transmembrane transport|downregulation of cation transmembrane transport|down regulation of cation transmembrane transport	http://purl.obolibrary.org/obo/GO_1904063	Any process that stops, prevents or reduces the frequency, rate or extent of cation transmembrane transport.	
MONDO:0011678	homozygous 11P15-p14 deletion syndrome	biolink:Disease	mondo	MESH:C564701|UMLS:C1847866|OMIM:606528		homozygous 11P15-p14 deletion syndrome|hyperinsulinism, infantile, with enteropathy and deafness	http://purl.obolibrary.org/obo/MONDO_0011678		http://identifiers.org/omim/606528|MESH:C564701|UMLS:C1847866
HGNC:12877	ZMPSTE24	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12877		
GO:1904062	regulation of cation transmembrane transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1904062	Any process that modulates the frequency, rate or extent of cation transmembrane transport.	
MONDO:0011677	Megarbane syndrome	biolink:Disease	mondo	OMIM:606527|UMLS:C1847871|GARD:0009979|MESH:C536145	gard_rare	short stature, abnormal face, joint laxity, hernias, delayed bone age, and severe psychomotor retardation|Megarbane syndrome	http://purl.obolibrary.org/obo/MONDO_0011677		http://identifiers.org/omim/606527|UMLS:C1847871|MESH:C536145
UBERON:0019293	white matter of pontine tegmentum	biolink:AnatomicalEntity	mondo			white matter of pontile tegmentum|white substance of pontile tegmentum|substantia alba tegmenti pontis|pontine white matter tracts|predominantly white regional part of pontine tegmentum	http://purl.obolibrary.org/obo/UBERON_0019293		
UBERON:0019294	commissure of telencephalon	biolink:AnatomicalEntity	mondo			telencephalic commissures	http://purl.obolibrary.org/obo/UBERON_0019294		
UBERON:0019291	white matter of metencephalon	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0019291		
UBERON:0019292	white matter of pons	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0019292		
MONDO:0011670	Ehlers-Danlos syndrome due to tenascin-X deficiency	biolink:Disease	mondo	GARD:0008507|OMIM:606408|Orphanet:230839|UMLS:C1848029|MESH:C536193|ICD10:Q79.6	ordo_disease	EDS due to Tnx deficiency|Ehlers-Danlos syndrome, classic-like|EDS due to TNX deficiency|EDSCLL|Ehlers-Danlos syndrome due to tenascin-X deficiency|Ehlers-Danlos-like syndrome due to tenascin-X deficiency|Ehlers-Danlos syndrome, classic-like type|classical-like Ehlers-Danlos syndrome|classical-like EDS|clEDS|Ehlers-Danlos syndrome, classic-like; EDSCLL|Tnx deficiency|EDS, classic-like type|TNX deficiency	http://purl.obolibrary.org/obo/MONDO_0011670		UMLS:C1848029|MESH:C536193|ORPHA:230839|http://identifiers.org/omim/606408
NCBITaxon:803	Bartonella quintana	organism taxon	mondo	GC_ID:11|PMID:8240958		Rickettsia quintana|Rickettsia pediculi|Rickettsia weigli|Rickettsia wolhynica|Burnetia (Rocha-limae) wolhynica|Wolhynia qintanae|Rochalimaea quintana	http://purl.obolibrary.org/obo/NCBITaxon_803		
MONDO:0045011	keratinization disease	biolink:Disease	mondo	UMLS:C0475811|SCTID:277905003		keratinization disease|disorder of keratinization	http://purl.obolibrary.org/obo/MONDO_0045011		SNOMEDCT:277905003|UMLS:C0475811
HGNC:24862	MOGS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24862		
MONDO:0045010	glycoprotein metabolism disease	biolink:Disease	mondo	SCTID:238045003|UMLS:C0342844		glycoprotein metabolic process disease|glycoprotein metabolism disease|disorder of glycoprotein metabolism|disorder of glycoprotein metabolic process|disorder of glycoprotein metabolic process	http://purl.obolibrary.org/obo/MONDO_0045010	A disease that has its basis in the disruption of glycoprotein metabolic process.	SNOMEDCT:238045003|UMLS:C0342844
MONDO:0023642	Weber syndrome	biolink:Disease	mondo	UMLS:C0455717|GARD:0008676|ICD9:344.89|SCTID:24654003	gard_rare	Weber-Gubler syndrome|Weber-Gubler syndrome|Weber syndrome|Midbrain stroke syndromes|Weber Syndrome	http://purl.obolibrary.org/obo/MONDO_0023642		SNOMEDCT:24654003|UMLS:C0455717
MONDO:0060629	neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive	biolink:Disease	mondo	UMLS:CN737161|OMIM:617820		neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive; NDHMSR|NDHMSR	http://purl.obolibrary.org/obo/MONDO_0060629		http://identifiers.org/omim/617820|UMLS:CN737161
MONDO:0023644	lip and oral cavity carcinoma	biolink:Disease	mondo	NCIT:C9315|GARD:0009360|UMLS:C0220641|GARD:0009342	gard_rare	oral cancer|lip and oral cavity carcinoma|lip and oral cavity cancer|oral carcinoma	http://purl.obolibrary.org/obo/MONDO_0023644	A carcinoma arising in the lip or oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma. Lip carcinomas are usually basal cell or squamous cell carcinomas.	NCIT:C9315|UMLS:C0220641
MONDO:0060627	glycosylphosphatidylinositol biosynthesis defect 15	biolink:Disease	mondo	Orphanet:529665|UMLS:C4540520|OMIM:617810	ordo_malformation_syndrome	developmental delay, epilepsy, cerebellar atrophy, and osteopenia|glycosylphosphatidylinositol biosynthesis defect 15; GPIBD15|GPIBD15	http://purl.obolibrary.org/obo/MONDO_0060627		UMLS:C4540520|ORPHA:529665|http://identifiers.org/omim/617810
HGNC:24866	CEP104	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24866		
MONDO:0023646	lipodermatosclerosis	biolink:Disease	mondo	GARD:0009671|MESH:C537026|UMLS:C0406500|SCTID:410016009	gard_rare	hypodermitis sclerodermaformis|acute lipodermatosclerosis|sclerosing panniculitis	http://purl.obolibrary.org/obo/MONDO_0023646	Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. The exact underlying cause is unknown; however, it appears to be associated with venous insufficiency and/or obesity. Treatment usually includes compression therapy.	MESH:C537026|UMLS:C0406500|SNOMEDCT:410016009
MONDO:0045017	cholesterol biosynthetic process disease	biolink:Disease	mondo	SCTID:238036004|UMLS:C0342829		disorder of cholesterol synthesis|disorder of cholesterol biosynthetic process|disorder of cholesterol biosynthetic process|cholesterol synthesis disease	http://purl.obolibrary.org/obo/MONDO_0045017	A disease that has its basis in the disruption of cholesterol biosynthetic process.	SNOMEDCT:238036004|UMLS:C0342829
MONDO:0008028	muscular dystrophy, Barnes type	biolink:Disease	mondo	MESH:C563558|OMIM:158800|UMLS:C1834688		muscular dystrophy, Barnes type	http://purl.obolibrary.org/obo/MONDO_0008028		http://identifiers.org/omim/158800|UMLS:C1834688|MESH:C563558
MONDO:0011658	autosomal recessive early-onset Parkinson disease 7	biolink:Disease	mondo	MESH:C565238|UMLS:C1853445|DOID:0060370|OMIM:606324		Parkinson disease caused by mutation in PARK7|PARK7|autosomal recessive early-onset Parkinson's disease 7|PARK7 Parkinson disease|autosomal recessive early-onset Parkinson disease type 7|Parkinson disease 7, autosomal recessive early-onset; PARK7|Parkinson disease 7, autosomal recessive early-onset	http://purl.obolibrary.org/obo/MONDO_0011658	Any Parkinson disease in which the cause of the disease is a mutation in the PARK7 gene.	MESH:C565238|http://identifiers.org/omim/606324|DOID:0060370|UMLS:C1853445
MONDO:0045016	cholesterol catabolic process disease	biolink:Disease	mondo	SCTID:238032002|UMLS:C0342825		disorder of cholesterol catabolism|cholesterol catabolism disease|disorder of cholesterol catabolic process|disorder of cholesterol catabolic process	http://purl.obolibrary.org/obo/MONDO_0045016	A disease that has its basis in the disruption of cholesterol catabolic process.	SNOMEDCT:238032002|UMLS:C0342825
MONDO:0011657	autosomal dominant nonsyndromic deafness 24	biolink:Disease	mondo	GARD:0009166|MESH:C565239|OMIM:606282|UMLS:C1853451|DOID:0110554|ICD10:H90.3		DFNA 24|deafness, autosomal dominant 24; DFNA24|deafness, autosomal dominant 24|DFNA24|autosomal dominant deafness 24|deafness, autosomal dominant nonsyndromic sensorineural 24|autosomal dominant nonsyndromic deafness type 24	http://purl.obolibrary.org/obo/MONDO_0011657	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q35-qter.	MESH:C565239|http://identifiers.org/omim/606282|DOID:0110554|UMLS:C1853451
MONDO:0008029	Bethlem myopathy	biolink:Disease	mondo	ICD10:G71.0|OMIMPS:158810|GARD:0000873|NCIT:C126688|MESH:C535436|Orphanet:610|UMLS:C1834674|SCTID:718572004|DOID:0050663	ordo_disease|prototype_pattern	BTHLM1|benign autosomal dominant myopathy|Bethlem myopathy 1|Bethlem myopathy type 1|benign congenital muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0008029	A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles.	UMLS:C1834674|DOID:0050663|ORPHA:610|MESH:C535436|NCIT:C126688|SNOMEDCT:718572004
MONDO:0060624	neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	biolink:Disease	mondo	OMIM:617807|UMLS:C4540498		neurodevelopmental disorder with ataxic GAIT, absent speech, and decreased cortical WHITE matter; NDAGSCW|NDAGSCW	http://purl.obolibrary.org/obo/MONDO_0060624		http://identifiers.org/omim/617807|UMLS:C4540498
MONDO:0008026	autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures	biolink:Disease	mondo	MESH:C563560|ICD10:G12.1|OMIM:158600|UMLS:C1834690|Orphanet:209341	ordo_clinical_subtype	Kugelberg-Welander syndrome, autosomal dominant|spinal muscular atrophy, juvenile, proximal, autosomal dominant|spinal muscular atrophy, LOWER extremity-predominant, 1, autosomal dominant|spinal muscular atrophy, LOWER extremity-predominant, 1, autosomal dominant; SMALED1|SMALED1|spinal muscular atrophy, childhood, proximal, autosomal dominant|Sma-led|Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures	http://purl.obolibrary.org/obo/MONDO_0008026		UMLS:C1834690|ORPHA:209341|MESH:C563560|http://identifiers.org/omim/158600
MONDO:0045019	lactation disease	biolink:Disease	mondo	SCTID:35046003|UMLS:C0022927		lactation disease|disorder of lactation	http://purl.obolibrary.org/obo/MONDO_0045019		UMLS:C0022927|SNOMEDCT:35046003
MONDO:0008027	muscular atrophy, malignant neurogenic	biolink:Disease	mondo	UMLS:C1834689|MESH:C563559|OMIM:158650		muscular atrophy, malignant neurogenic	http://purl.obolibrary.org/obo/MONDO_0008027		UMLS:C1834689|MESH:C563559|http://identifiers.org/omim/158650
MONDO:0011659	HTX3	biolink:Disease	mondo	MESH:C565237|OMIM:606325|UMLS:C1853444		HTX3|heterotaxy, visceral, 3, autosomal; HTX3|heterotaxy, visceral, 3, autosomal	http://purl.obolibrary.org/obo/MONDO_0011659		MESH:C565237|http://identifiers.org/omim/606325|UMLS:C1853444
NCBITaxon:266068	Rickettsia sibirica subgroup	organism taxon	mondo	GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_266068		
MONDO:0045018	creatine biosynthetic process disease	biolink:Disease	mondo	UMLS:C0574079|SCTID:297226004		creatine synthesis disease|disorder of creatine biosynthetic process|disorder of creatine biosynthetic process|disorder of creatine synthesis	http://purl.obolibrary.org/obo/MONDO_0045018	A disease that has its basis in the disruption of creatine biosynthetic process.	SNOMEDCT:297226004|UMLS:C0574079
MONDO:0060622	neurodevelopmental disorder with severe motor impairment and absent language	biolink:Disease	mondo	OMIM:617804|UMLS:C4540496		NEDMIAL|neurodevelopmental disorder with severe motor impairment and absent language; NEDMIAL	http://purl.obolibrary.org/obo/MONDO_0060622		http://identifiers.org/omim/617804|UMLS:C4540496
MONDO:0045013	disease of extraembryonic membrane	biolink:Disease	mondo	SCTID:609522002|UMLS:C3662139		disorder of extraembryonic membrane|disease or disorder of extraembryonic membrane|extraembryonic membrane disease or disorder|extraembryonic membrane disease|disease of extraembryonic membrane|disorder of extraembryonic membrane	http://purl.obolibrary.org/obo/MONDO_0045013	A disease or disorder that involves the extraembryonic membrane.	SNOMEDCT:609522002|UMLS:C3662139
MONDO:0008024	neuronopathy, distal hereditary motor, type 7A	biolink:Disease	mondo	UMLS:C1834703|MESH:C563562|OMIM:158580|DOID:0111201		HMN7A|neuronopathy, distal hereditary motor, type VIIA|spinal muscular atrophy, distal, with vocal cord paralysis|Harper-Young myopathy|neuronopathy, distal hereditary motor, type VIIA; HMN7A|SLC5A7 neuronopathy, distal hereditary motor|HMN 7A|Dhmn7A|Dhmnvp|neuropathy, distal hereditary motor, type 7A|neuronopathy, distal hereditary motor caused by mutation in SLC5A7	http://purl.obolibrary.org/obo/MONDO_0008024	Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the SLC5A7 gene.	UMLS:C1834703|DOID:0111201|MESH:C563562|http://identifiers.org/omim/158580
MONDO:0060621	neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	biolink:Disease	mondo	OMIM:617802|UMLS:C4540493		NDMSCA|neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy; NDMSCA	http://purl.obolibrary.org/obo/MONDO_0060621		UMLS:C4540493|http://identifiers.org/omim/617802
MONDO:0045012	steroid metabolism disease	biolink:Disease	mondo	UMLS:C0268283|SCTID:28710006		steroid metabolism disease|disorder of steroid metabolism|disorder of steroid metabolic process|disorder of steroid metabolic process|steroid metabolic process disease	http://purl.obolibrary.org/obo/MONDO_0045012	A disease that has its basis in the disruption of steroid metabolic process.	UMLS:C0268283|SNOMEDCT:28710006
MONDO:0008025	neuronopathy, distal hereditary motor, type 2A	biolink:Disease	mondo	UMLS:C1834692|DOID:0111208|MESH:C563561|OMIM:158590		neuronopathy, distal hereditary motor caused by mutation in HSPB8|spinal muscular atrophy, distal, adult, autosomal dominant, 2A|HMN 2A|neuronopathy, distal hereditary motor, type IIA; HMN2A|neuropathy, distal hereditary motor, type 2A|HMN2A|HSPB8 neuronopathy, distal hereditary motor|neuronopathy, distal hereditary motor, type IIA|Charcot-Marie-Tooth disease, spinal, 2A	http://purl.obolibrary.org/obo/MONDO_0008025	Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB8 gene.	UMLS:C1834692|DOID:0111208|MESH:C563561|http://identifiers.org/omim/158590
HGNC:24861	G6PC3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24861		
MONDO:0008022	muscle cramps, familial	biolink:Disease	mondo	OMIM:158400|MESH:C563563|UMLS:C1834708		muscle cramps, familial	http://purl.obolibrary.org/obo/MONDO_0008022		UMLS:C1834708|MESH:C563563|http://identifiers.org/omim/158400
MONDO:0045015	carbohydrate transport disease	biolink:Disease	mondo	SCTID:54905006|UMLS:C0268173		carbohydrate transport disease|disorder of carbohydrate transport|disorder of carbohydrate transport	http://purl.obolibrary.org/obo/MONDO_0045015	A disease that has its basis in the disruption of carbohydrate transport.	UMLS:C0268173|SNOMEDCT:54905006
MONDO:0008023	muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome	biolink:Disease	mondo	GARD:0002417|ICD9:728.2|OMIM:158500|Orphanet:2579|SCTID:237611007	gard_rare|ordo_disease	muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus|Furukawa-Takagi-Nakao syndrome|muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus	http://purl.obolibrary.org/obo/MONDO_0008023	This disorder is characterized by muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus.	MESH:C538193|ORPHA:2579|UMLS:C0342281|http://identifiers.org/omim/158500|UMLS:C2931765|SNOMEDCT:237611007
MONDO:0045014	tetrahydrobiopterin metabolic process disease	biolink:Disease	mondo	UMLS:C0342676|SCTID:237913008		disorder of tetrahydrobiopterin metabolic process|tetrahydrobiopterin metabolism disease|disorder of tetrahydrobiopterin metabolic process|disorder of tetrahydrobiopterin metabolism	http://purl.obolibrary.org/obo/MONDO_0045014	A disease that has its basis in the disruption of tetrahydrobiopterin metabolic process.	SNOMEDCT:237913008|UMLS:C0342676
MONDO:0011661	inflammatory bowel disease 5	biolink:Disease	mondo	MESH:C565234|DOID:0110889|UMLS:C1853438|OMIM:606348		IBD5|inflammatory bowel disease type 5|inflammatory bowel disease 5; IBD5|inflammatory bowel disease 5	http://purl.obolibrary.org/obo/MONDO_0011661	An inflammatory bowel disease that has material basis in variation in the chromosome region 5q31.	http://identifiers.org/omim/606348|DOID:0110889|UMLS:C1853438|MESH:C565234
MONDO:0008020	multiple exostoses with spastic tetraparesis	biolink:Disease	mondo	GARD:0000291|MESH:C563566|OMIM:158345|UMLS:C1834724		spasticity multiple exostoses|multiple exostoses with spastic tetraparesis|Hamann Zanki schimrigk syndrome	http://purl.obolibrary.org/obo/MONDO_0008020		MESH:C563566|http://identifiers.org/omim/158345|UMLS:C1834724
MONDO:0011660	autosomal dominant nonsyndromic deafness 22	biolink:Disease	mondo	OMIM:606346|DOID:0110552|ICD10:H90.3|GARD:0009167|MESH:C538197		deafness, autosomal dominant type 22|DFNA 22|autosomal dominant nonsyndromic deafness caused by mutation in MYO6|autosomal dominant deafness 22|MYO6 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant nonsyndromic sensorineural 22|deafness, autosomal dominant 22|autosomal dominant nonsyndromic deafness type 22|deafness, autosomal dominant 22, with hypertrophic cardiomyopathy|deafness, autosomal dominant 22; DFNA22|DFNA22	http://purl.obolibrary.org/obo/MONDO_0011660	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene.	http://identifiers.org/omim/606346|DOID:0110552|MESH:C538197
MONDO:0008021	Cowden syndrome 1	biolink:Disease	mondo	UMLS:CN072330|OMIM:158350		Proteus-like syndrome|Lhermitte-Duclos disease|Cowden syndrome 1; CWS1|Cowden syndrome type 1|PTEN Cowden disease|cerebelloparenchymal disorder 6|Cowden syndrome 1|dysplastic gangliocytoma of the cerebellum|multiple hamartoma syndrome|Cowden disease caused by mutation in PTEN|CS|cerebellar granule cell Hypertrophy and megalencephaly|CWS1	http://purl.obolibrary.org/obo/MONDO_0008021	Any Cowden disease in which the cause of the disease is a mutation in the PTEN gene.	UMLS:CN072330|http://identifiers.org/omim/158350
MONDO:0011663	juvenile primary lateral sclerosis	biolink:Disease	mondo	SCTID:717964007|UMLS:C1853396|OMIM:606353|ICD10:G12.2|GARD:0004485|MESH:C536416|Orphanet:247604	gard_rare|ordo_disease	JPLS|juvenile PLS|primary lateral sclerosis, juvenile|primary lateral sclerosis, juvenile; PLSJ|Pls, juvenile|PLS juvenile|PLSJ	http://purl.obolibrary.org/obo/MONDO_0011663	Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production.	MESH:C536416|http://identifiers.org/omim/606353|UMLS:C1853396|SNOMEDCT:717964007|ORPHA:247604
MONDO:0011662	pathological gambling	biolink:Disease	mondo	SCTID:18085000|OMIM:606349|ICD10:F63.0|ICD9:312.31|EFO:1001926|NCIT:C94335|DOID:12399|MESH:D005715|COHD:436959		compulsive gambling|pathological gambling|gambling, pathologic	http://purl.obolibrary.org/obo/MONDO_0011662	A disorder characterized by a preoccupation with gambling and the excitement that gambling with increasing risk provides. Pathological gamblers are unable to cut back on their gambling, despite the fact that it may lead them to lie, steal, or lose a significant relationship, job, or educational opportunity.	http://identifiers.org/omim/606349|DOID:12399|MESH:D005715|SNOMEDCT:18085000|NCIT:C94335
MONDO:0011665	obsolete Lennox-Gastaut syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0011665		
MONDO:0011664	immunodeficiency due to CD25 deficiency	biolink:Disease	mondo	OMIM:606367|MESH:C565232|Orphanet:169100|ICD10:D81.2|UMLS:C1853392	ordo_disease	IMD41|IL2RA deficiency|Interleukin 2 receptor, alpha, deficiency of|immunodeficiency 41 with lymphoproliferation and autoimmunity|immunodeficiency 41 with lymphoproliferation and autoimmunity; IMD41|Interleukin-2 receptor alpha chain deficiency|CD25 deficiency	http://purl.obolibrary.org/obo/MONDO_0011664		MESH:C565232|http://identifiers.org/omim/606367|ORPHA:169100|UMLS:C1853392
MONDO:0011667	maturity-onset diabetes of the young type 4	biolink:Disease	mondo	OMIM:606392|MESH:C563451|DOID:0111103|GARD:0010659|SCTID:609571007|NCIT:C129746	gard_rare	MODY4|MODY, type 4|PDX1-associated monogenic diabetes|MODY insulin promoter factor-1 related|PDX1 maturity-onset diabetes of the young (disease)|maturity-onset diabetes of the young (disease) caused by mutation in PDX1|maturity onset diabetes of the Young, type 4|MODY type 4|maturity-onset diabetes of the young, type 4; MODY4|type 4 maturity-onset diabetes of the young|maturity-onset diabetes of the young, type 4|diabetes mellitus MODY type 4	http://purl.obolibrary.org/obo/MONDO_0011667	Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes.	NCIT:C129746|DOID:0111103|http://identifiers.org/omim/606392|MESH:C563451|SNOMEDCT:609571007
MONDO:0011666	obsolete maturity-onset diabetes of the young	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0011666		
NCBITaxon:815	Bacteroidaceae	organism taxon	mondo	GC_ID:11|PMID:8300528			http://purl.obolibrary.org/obo/NCBITaxon_815		
MONDO:0021053	carotid body paraganglioma	biolink:Disease	mondo	ICDO:8692/1|GARD:0010598|UMLS:C0007279|NCIT:C2932		tumor of carotid body|tumor of the carotid body|carotid body chemodectoma|chemodectoma|carotid body tumor|carotid body paraganglioma|chemodectoma, undetermined|paraganglioma of carotid body|paraganglioma of carotid body|paraganglioma of the carotid body	http://purl.obolibrary.org/obo/MONDO_0021053	A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia adjacent to or in the bifurcation of the common carotid artery. Most patients present with a slow growing, painless mass in the neck.	NCIT:C2932|UMLS:C0007279
MONDO:0021052	parasympathetic paraganglioma	biolink:Disease	mondo	ICDO:8682/1|UMLS:C0334416|NCIT:C4217		paraganglioma of parasympathetic nervous system|parasympathetic Extra-adrenal paraganglioma|parasympathetic nervous system paraganglioma|parasympathetic paraganglioma|parasympathetic Paraganglionic neoplasm	http://purl.obolibrary.org/obo/MONDO_0021052	A benign or malignant, usually non-functioning, extra-adrenal paraganglioma that arises from paraganglia located along the parasympathetic nerves. Representative examples include aorticopulmonary, carotid body, jugulotympanic, and mediastinal paragangliomas.	NCIT:C4217|UMLS:C0334416
NCBITaxon:813	Chlamydia trachomatis	organism taxon	mondo	PMID:10192388|PMID:8102247|PMID:10319462|PMID:8347519|GC_ID:11		Rickettsia trachomatis|Chlamydozoon trachomatis|Rickettsia trachomae	http://purl.obolibrary.org/obo/NCBITaxon_813		
MONDO:0021051	obsolete hemophagocytic syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021051		
MONDO:0021050	vaginal neoplasm	biolink:Disease	mondo	EFO:1001447|ICD9:239.5|SCTID:126921000|NCIT:C3437|ONCOTREE:VULVA		tumor of vagina|neoplasm of the vagina|vagina neoplasm (disease)|vaginal tumor|vaginal neoplasm|neoplasm of vagina|vagina tumor|tumor of the vagina|vagina neoplasm	http://purl.obolibrary.org/obo/MONDO_0021050	A benign or malignant neoplasm affecting the vagina. Representative examples of benign neoplasms include squamous papilloma and melanocytic nevus. Representative examples of malignant neoplasms include carcinoma, melanoma, and sarcoma.	SNOMEDCT:126921000|NCIT:C3437
NCBITaxon:816	Bacteroides	organism taxon	mondo	GC_ID:11		Ristella|Capsularis	http://purl.obolibrary.org/obo/NCBITaxon_816		
HP:0002617	Vascular dilatation	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:85659009|MSH:D000783|UMLS:C0002940|UMLS:C4020848|SNOMEDCT_US:432119003|Fyler:2399		Aneurysms|Wider than typical opening or gap|Aneurysm|Aneurysmal dilatation|Aneurysmal disease	http://purl.obolibrary.org/obo/HP_0002617	Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.	
MONDO:0021059	head or neck disease/disorder	biolink:Disease	mondo	UMLS:C1333941|NCIT:C27571		head and neck disorder|disorder of craniocervical region|craniocervical region disease|disease or disorder of craniocervical region|head or neck disorder|disease of craniocervical region|craniocervical region disease or disorder|disorder of craniocervical region	http://purl.obolibrary.org/obo/MONDO_0021059	Any disease or disorder affecting the head and/or neck region.	UMLS:C1333941|NCIT:C27571
HP:0002615	Hypotension	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:45007003|MSH:D007022|UMLS:C0020649		Low blood pressure|Arterial hypotension	http://purl.obolibrary.org/obo/HP_0002615	Low Blood Pressure, vascular hypotension.	
MONDO:0021058	neoplastic syndrome	biolink:Disease	mondo	NCIT:C54705		neoplastic syndrome|cancer-related syndrome|tumor syndrome	http://purl.obolibrary.org/obo/MONDO_0021058	A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired.	NCIT:C54705
MONDO:0008079	neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome	biolink:Disease	mondo	UMLS:C1834232|OMIM:162240|MESH:C563522|GARD:0010543		neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome|duodenal carcinoid syndrome|Npdc syndrome	http://purl.obolibrary.org/obo/MONDO_0008079		MESH:C563522|http://identifiers.org/omim/162240|UMLS:C1834232
MONDO:0021057	classic or attenuated familial adenomatous polyposis	biolink:Disease	mondo			classic or attenuated FAP	http://purl.obolibrary.org/obo/MONDO_0021057	An inherited diseases haracterized by the development of adenomas in the rectum and colon; classified into classic FAP and attenuated FAP.	
MONDO:0021056	familial adenomatous polyposis 1	biolink:Disease	mondo	OMIM:175100|DOID:0080409		FAP1|Gardner syndrome|familial adenomatous polyposis, attenuated|APC attenuated familial adenomatous polyposis|familial adenomatous polyposis 1|polyposis, adenomatous intestinal|attenuated familial adenomatous polyposis caused by mutation in APC|brain tumor-polyposis syndrome 2|adenomatous polyposis coli, attenuated|familial adenomatous polyposis 1; FAP1|familial polyposis of the colon|adenomatous polyposis of the colon	http://purl.obolibrary.org/obo/MONDO_0021056	Any attenuated familial adenomatous polyposis in which the cause of the disease is a mutation in the APC gene.	DOID:0080409|http://identifiers.org/omim/175100
NCBITaxon:810	Chlamydia	organism taxon	mondo	PMID:9103632|PMID:10319462|PMID:25618261|PMID:11211265|PMID:21048222|PMID:21048221|PMID:9103637|PMID:23620152|GC_ID:11		Chlamydophila|Rickettsiaformis|Miyagawanella|Rakeia|"Prowazekia" Coles 1953|Bedsonia	http://purl.obolibrary.org/obo/NCBITaxon_810		
MONDO:0021055	classic familial adenomatous polyposis	biolink:Disease	mondo	GARD:0006408|OMIMPS:175100|MedDRA:10056981|DOID:0050424|ICDO:8220/0|NCIT:C3339|ICD10:D12.6|UMLS:C0032580|SCTID:72900001|Orphanet:733|DC:0000707|UMLS:CN240755	ordo_disease	familial polyposis coli|classic FAP|FPC|familial adenomatous polyposis|familial polyposis|familial adenomatous polyposis syndrome|hereditary polyposis coli|FAP|hereditary adenomatous polyposis coli|adenomatous polyposis of the colon|colorectal adenomatous polyposis|familial adenomatous polyposis of the colon|familial adenomatous polyposis coli|adenomatous polyposis coli|polyposis coli|APC - adenomatous polyposis coli|familial multiple polyposis	http://purl.obolibrary.org/obo/MONDO_0021055	Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life.	SNOMEDCT:72900001|MEDDRA:10056981|NCIT:C3339|UMLS:C0032580|DOID:0050424|MESH:D011125|ORPHA:733|UMLS:CN240755
MONDO:0008077	obsolete neurofibromatosis, type 1	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0008077		
MONDO:0008078	neurofibromatosis, familial spinal	biolink:Disease	mondo	UMLS:C1834235|OMIM:162210|DOID:0111253|MESH:C563523		Fsnf|neurofibromatosis, familial spinal	http://purl.obolibrary.org/obo/MONDO_0008078		MESH:C563523|http://identifiers.org/omim/162210|UMLS:C1834235|DOID:0111253
MONDO:0021054	bone sarcoma	biolink:Disease	mondo	Orphanet:223727|ICD9:170.9|MedDRA:10006007|SCTID:448710000|UMLS:C1704327|NCIT:C9312|DOID:0080639	ordo_group_of_disorders	sarcoma of bone|sarcoma of the bone|bone sarcoma|skeletal sarcoma|osseous sarcoma	http://purl.obolibrary.org/obo/MONDO_0021054	A sarcoma that arises from the bone. Representative examples are osteosarcoma and chondrosarcoma.	SNOMEDCT:448710000|MEDDRA:10006007|NCIT:C9312|DOID:0080639|UMLS:C1704327|ORPHA:223727
HP:0002619	Varicose veins	biolink:PhenotypicFeature	mondo	MSH:D014648|SNOMEDCT_US:12856003|SNOMEDCT_US:128060009|UMLS:C0042345|SNOMEDCT_US:399989005			http://purl.obolibrary.org/obo/HP_0002619	Enlarged and tortuous veins.	
NCBITaxon:27458	Chrysops	organism taxon	mondo	GC_ID:1		deer flies	http://purl.obolibrary.org/obo/NCBITaxon_27458		
MONDO:0008075	neurofibromatosis type 3	biolink:Disease	mondo	ICD10:Q85.0|OMIMPS:162091|NCIT:C6557|ICD9:237.73|GARD:0004768|ICDO:9560/1|UMLS:C1335929|Orphanet:93921|DOID:3204|ICD10:Q85.03	ordo_disease	neurinoma|Schwannomatosis|neurilemmomatosis, congenital cutaneous|neurilemmomatosis congenital cutaneous|neurilemmomatosis|schwannomatosis|Neurinomatosis|NF3|congenital cutaneous neurilemmomatosis	http://purl.obolibrary.org/obo/MONDO_0008075	Neurofibromatosis (NF) type 3 (NF3), also known as schwannomatosis, is the least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium.	NCIT:C6557|ORPHA:93921|UMLS:C1335929|DOID:3204|MESH:C536641|UMLS:C0917817
MONDO:0008076	amyotrophic neuralgia	biolink:Disease	mondo	ICD9:353.5|SCTID:26609002|DOID:10383|ICD10:G54.5|GARD:0003955|OMIM:162100		amyotrophy, hereditary neuralgic|hereditary neuralgic amyotrophy|HNA|brachial plexus neuropathy, hereditary|amyotrophy, hereditary neuralgic; HNA|hereditary brachial plexus neuropathy|neuritis with brachial predilection|amyotrophy, hereditary neuralgic, with predilection for brachial plexus|neuralgic amyotrophy	http://purl.obolibrary.org/obo/MONDO_0008076		SNOMEDCT:26609002|http://identifiers.org/omim/162100|DOID:10383
MONDO:0008073	familial juvenile hyperuricemic nephropathy type 1	biolink:Disease	mondo	Orphanet:209886|GARD:0006806|OMIM:162000|UMLS:CN239214	ordo_disease|gard_rare|prototype_pattern	HNFJ1|hyperuricemic nephropathy, familial juvenile|hyperuricemic nephropathy, familial juvenile, 1; HNFJ1|familial juvenile hyperuricemic nephropathy caused by mutation in UMOD|uromodulin-associated kidney disease|UMOD-associated FJHN|hyperuricemic nephropathy, familial juvenile, type 1|UMOD familial juvenile hyperuricemic nephropathy|UMOD-associated familial juvenile hyperuricemic nephropathy|UMOD-related kidney disease|FJHN type 1|uromodulin storage disease|familial juvenile gouty nephropathy|familial nephropathy with gout|hyperuricemic nephropathy, familial juvenile, 1|hyperuricemic nephropathy, familial juvenile 1|nephropathy, familial, with gout|familial juvenile hyperuricaemic nephropathy|gouty nephropathy, familial juvenile	http://purl.obolibrary.org/obo/MONDO_0008073	Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age.	http://identifiers.org/omim/162000|UMLS:CN239214|ORPHA:209886
MONDO:0008074	nerve growth factor, alpha subunit	biolink:Disease	mondo	OMIM:162020		NGFA|nerve growth factor, alpha subunit|nerve growth factor, ALPHA SUBUNIT; NGFA	http://purl.obolibrary.org/obo/MONDO_0008074		http://identifiers.org/omim/162020
MONDO:0008071	autosomal dominant progressive nephropathy with hypertension	biolink:Disease	mondo	ICD9:583.9|MESH:C562889|UMLS:C3839782|UMLS:C0403443|OMIM:161900|ICD10:I15.1|SCTID:703310005|Orphanet:88659	ordo_disease	renal failure, progressive, with hypertension|renal failure, adult-onset|RFH1|nephropathy, familial|renal failure, progressive, with hypertension; RFH1|nephritis, familial, without deafness or ocular defect	http://purl.obolibrary.org/obo/MONDO_0008071		SNOMEDCT:703310005|MESH:C562889|http://identifiers.org/omim/161900|ORPHA:88659|UMLS:C0403443|UMLS:C3839782
MONDO:0008072	IGAN1	biolink:Disease	mondo	OMIM:161950|GARD:0000863	predisposition	Igan|glomerulonephritis, IgA|IgA nephropathy, susceptibility to, 1|IgA nephropathy, susceptibility to, 1; IGAN1|nephritis, IgA type|berger disease|IGAN1	http://purl.obolibrary.org/obo/MONDO_0008072		http://identifiers.org/omim/161950
MONDO:0008070	nemaline myopathy 3	biolink:Disease	mondo	OMIM:161800|MESH:C580202|DOID:0110927|SCTID:702349003|NCIT:C129870|UMLS:CN187050		NEM3|nemaline myopathy 3, autosomal dominant or recessive|myopathy, actin, congenital, with cores|ACTA1 nemaline myopathy|nemaline myopathy 3; NEM3|myopathy, actin, congenital, with Excess of thin myofilaments|nemaline myopathy type 3|nemaline myopathy 3|nemaline myopathy caused by mutation in ACTA1|nemaline myopathy 3, with intranuclear rods	http://purl.obolibrary.org/obo/MONDO_0008070	An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles.	DOID:0110927|http://identifiers.org/omim/161800|UMLS:CN187050|NCIT:C129870|SNOMEDCT:702349003|MESH:C580202
FOODON:00001714	food product component	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00001714	A food product which normally exists as an ingredient to another food product, rather than eaten on its own, and is more complex than a chemical food component.	
GO:1904081	positive regulation of transcription from RNA polymerase II promoter involved in neuron differentiation	biolink:OntologyClass	mondo			up regulation of global transcription from RNA polymerase II promoter involved in neuron differentiation|stimulation of global transcription from RNA polymerase II promoter involved in neuron differentiation|activation of transcription from RNA polymerase II promoter involved in neuron differentiation|upregulation of transcription from RNA polymerase II promoter involved in neuron differentiation|positive regulation of transcription from RNA polymerase II promoter, global involved in neuron differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter involved in neuron differentiation|positive regulation of global transcription from Pol II promoter involved in neuron differentiation|upregulation of global transcription from RNA polymerase II promoter involved in neuron differentiation|activation of global transcription from RNA polymerase II promoter involved in neuron differentiation|positive regulation of transcription from Pol II promoter involved in neuron differentiation|up regulation of transcription from RNA polymerase II promoter involved in neuron differentiation|up-regulation of transcription from RNA polymerase II promoter involved in neuron differentiation|up-regulation of global transcription from RNA polymerase II promoter involved in neuron differentiation|stimulation of transcription from RNA polymerase II promoter involved in neuron differentiation	http://purl.obolibrary.org/obo/GO_1904081	Any positive regulation of transcription from RNA polymerase II promoter that is involved in neuron differentiation.	
NCBITaxon:809	Chlamydiaceae	organism taxon	mondo	PMID:11211261|GC_ID:11|PMID:10319462|PMID:25618261|PMID:10319506|PMID:11211265			http://purl.obolibrary.org/obo/NCBITaxon_809		
MONDO:0021042	glioma	biolink:Disease	mondo	NCIT:C3059|MESH:D005910|UMLS:C0017638|GARD:0006513|SCTID:393564001		tumor of neuroglia|glioma|glial tumor|neoplasm of the neuroglia|neoplasm of neuroglia|glial neoplasm|neuroglial neoplasm|neuroglial tumor|tumor of the neuroglia	http://purl.obolibrary.org/obo/MONDO_0021042	A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas.	NCIT:C3059|UMLS:C0017638|MESH:D005910|SNOMEDCT:393564001
MONDO:0021041	pleural solitary fibrous tumor	biolink:Disease	mondo	NCIT:C4457|SCTID:254646001|EFO:1000835		pleural cavity solitary fibrous tumor|solitary fibrous tumor of pleura|solitary fibrous tumor of the pleura|pleura solitary fibrous tumor|localized fibrous mesothelioma of pleura|localized fibrous mesothelioma of the pleura|pleural solitary fibrous tumor|fibroma of pleura|pleural Submesothelial fibroma|fibroma of the pleura|pleural fibroma	http://purl.obolibrary.org/obo/MONDO_0021041	A localized neoplasm of probable fibroblastic derivation, that arises from the pleura. It is characterized by the presence of round to spindle-shaped cells, hylanized stroma formation, thin-walled branching blood vessels, and thin bands of collagen.	NCIT:C4457|SNOMEDCT:254646001
MONDO:0021040	pancreatic neoplasm	biolink:Disease	mondo	ONCOTREE:PANCREAS|SCTID:126859007|EFO:0003860|MESH:D010190|NCIT:C3305		tumor of the pancreas|pancreatic neoplasm|pancreas neoplasm (disease)|tumor of pancreas|pancreas neoplasm|neoplasm of the pancreas|pancreas|pancreatic tumor|neoplasm of pancreas|pancreas tumor	http://purl.obolibrary.org/obo/MONDO_0021040	A benign or malignant neoplasm involving the pancreas.	NCIT:C3305|SNOMEDCT:126859007|MESH:D010190
MONDO:0021049	vulvar neoplasm	biolink:Disease	mondo	NCIT:C3443|SCTID:126922007|ICD9:239.5		tumor of the vulva|tumor of vulva|tumor of mammalian vulva|vulva neoplasm|mammalian vulva neoplasm|vulval neoplasm|vulvar neoplasm|neoplasm of the vulva|vulvar tumor|neoplasm of vulva|neoplasm of mammalian vulva|mammalian vulva neoplasm (disease)|vulva tumor|mammalian vulva tumor	http://purl.obolibrary.org/obo/MONDO_0021049	A benign or malignant neoplasm that affects the vulva. Representative examples include Bartholin gland adenoma, vulvar nodular hidradenoma, vulvar carcinoma, and vulvar melanoma.	NCIT:C3443|SNOMEDCT:126922007
MONDO:0021048	benign mastocytoma	biolink:Disease	mondo	NCIT:C3217|DOID:4658|ICD10:D47.0|UMLS:C2242987		MAST cell tumor, benign|benign mastocytoma|mastocytoma, benign	http://purl.obolibrary.org/obo/MONDO_0021048	A localized mast cell neoplasm without metastatic potential.	NCIT:C3217|UMLS:C2242987|DOID:4658
MONDO:0021047	breast phyllodes tumor	biolink:Disease	mondo	NCIT:C7575|SCTID:712989008|ONCOTREE:PT|GARD:0009514		phyllodes tumor of breast|phyllodes neoplasm of breast|phyllodes tumor of the breast|phyllodes neoplasm of the breast|phyllodes breast tumor|breast phyllodes tumor|breast phyllodes neoplasm|cystosarcoma phyllodes of breast|cystosarcoma phylloides - breast|cystosarcoma phyllodes of the breast|breast cystosarcoma phyllodes|cystosarcoma phylloides of the breast|phyllodes breast neoplasm	http://purl.obolibrary.org/obo/MONDO_0021047	A benign, malignant, or borderline circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a spindle cell mesenchymal (stromal) component.	SNOMEDCT:712989008|NCIT:C7575
HGNC:12858	ZAP70	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12858		
MONDO:0021046	breast fibroepithelial neoplasm	biolink:Disease	mondo	UMLS:C1511309|ONCOTREE:BFN|NCIT:C40405		BFN|breast fibroepithelial neoplasm|breast fibroepithelial neoplasms|breast fibroepithelial tumor	http://purl.obolibrary.org/obo/MONDO_0021046	A benign or malignant biphasic neoplasm that arises from the breast parenchyma. It is characterized by the presence of an epithelial and a mesenchymal (stromal) component. The typical examples are fibroadenoma and phyllodes tumor.	NCIT:C40405|UMLS:C1511309
MONDO:0021045	fibroepithelial neoplasm	biolink:Disease	mondo	UMLS:C0206649|MESH:D018225|NCIT:C3743|EFO:0007271		fibroepithelial neoplasm|fibroepithelial tumor	http://purl.obolibrary.org/obo/MONDO_0021045	A benign, borderline, or malignant neoplasm characterized by the presence of an epithelial and a fibrous component. Representative examples are fibroadenoma and phyllodes tumor.	NCIT:C3743|UMLS:C0206649|MESH:D018225
NCBITaxon:40411	Chrysosporium	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_40411		
MONDO:0008088	neuropathy, with paraprotein in serum, cerebrospinal fluid and urine	biolink:Disease	mondo	OMIM:162600|MESH:C563516|UMLS:C1834180		neuropathy, with paraprotein in serum, cerebrospinal fluid and urine	http://purl.obolibrary.org/obo/MONDO_0008088		MESH:C563516|http://identifiers.org/omim/162600|UMLS:C1834180
MONDO:0021044	obsolete Wilms tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021044	An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix.	
MONDO:0008089	neutropenia, chronic familial	biolink:Disease	mondo	OMIM:162700|ICD9:288.09|SCTID:234576008|MESH:C535815|UMLS:C3665676|GARD:0003983	gard_rare	neutropenia, chronic familial|leukopenia benign familial|neutropenia chronic familial|chronic familial neutropenia|leukopenia, benign familial	http://purl.obolibrary.org/obo/MONDO_0008089		MESH:C535815|http://identifiers.org/omim/162700|UMLS:C3665676|SNOMEDCT:234576008
MONDO:0021043	mixed neoplasm	biolink:Disease	mondo	MESH:D018193|NCIT:C6930|ICDO:8940/1		mixed neoplasm|mixed tumor	http://purl.obolibrary.org/obo/MONDO_0021043	A neoplasm composed of at least two distinct cellular populations.	MESH:D018193|NCIT:C6930
MONDO:0008086	neuropathy, hereditary sensory and autonomic, type 1A	biolink:Disease	mondo	DOID:0070152|OMIM:162400|GARD:0004798		HSN 1A|neuropathy, hereditary sensory, type 1A|HSAN 1A|HSAN1A|hereditary sensory and autonomic neuropathy type 1A|hereditary sensory and autonomic neuropathy type 1 caused by mutation in SPTLC1|neuropathy, hereditary sensory and autonomic, type IA; HSAN1A|hereditary sensory and autonomic neuropathy type IA|SPTLC1 hereditary sensory and autonomic neuropathy type 1|neuropathy, hereditary sensory and autonomic, type IA|neuropathy, hereditary sensory radicular, autosomal dominant, type 1A	http://purl.obolibrary.org/obo/MONDO_0008086	An axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena, caused by mutations in SPTLC1.	http://identifiers.org/omim/162400|DOID:0070152
MONDO:0008087	hereditary neuropathy with liability to pressure palsies	biolink:Disease	mondo	MedDRA:10069382|Orphanet:640|DOID:0060843|OMIM:162500|GARD:0005221|ICD10:G60.0|MESH:C536965|SCTID:230558006	ordo_malformation_syndrome	polyneuropathy, familial recurrent|HNPP|current pressure-sensitive neuropathy|familial recurrent polyneuropathy|heterozygous microdeletion 17p11.2p12|potato-grubbing palsy|Tomaculous neuropathy|tulip-bulb digger's palsy|tomaculous neuropathy|neuropathy, hereditary, with liability to pressure palsies; HNPP|neuropathy, hereditary, with liability to pressure palsies|hereditary neuropathy with liability to pressure palsy	http://purl.obolibrary.org/obo/MONDO_0008087	Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities.	MEDDRA:10069382|DOID:0060843|http://identifiers.org/omim/162500|UMLS:C0393814|ORPHA:640|SNOMEDCT:230558006|MESH:C536965
MONDO:0008084	neuropathy, congenital, with arthrogryposis multiplex	biolink:Disease	mondo	UMLS:C1834206|MESH:C535714|OMIM:162370|GARD:0010086	gard_rare	neuropathy, congenital, with arthrogryposis multiplex|congenital non-progressive peripheral neuropathy with arthrogryposis multiplex	http://purl.obolibrary.org/obo/MONDO_0008084		http://identifiers.org/omim/162370|UMLS:C1834206|MESH:C535714
GO:1904099	negative regulation of protein O-linked glycosylation	biolink:OntologyClass	mondo			inhibition of protein O-linked glycosylation|down-regulation of protein O-linked glycosylation|down-regulation of protein amino acid O-linked glycosylation|negative regulation of protein amino acid O-linked glycosylation|down regulation of protein amino acid O-linked glycosylation|downregulation of protein O-linked glycosylation|downregulation of protein amino acid O-linked glycosylation|inhibition of protein amino acid O-linked glycosylation|down regulation of protein O-linked glycosylation	http://purl.obolibrary.org/obo/GO_1904099	Any process that stops, prevents or reduces the frequency, rate or extent of protein O-linked glycosylation.	
MONDO:0008085	neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance	biolink:Disease	mondo	MESH:C563517|UMLS:C1834205|OMIM:162380		neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance	http://purl.obolibrary.org/obo/MONDO_0008085		MESH:C563517|http://identifiers.org/omim/162380|UMLS:C1834205
GO:1904098	regulation of protein O-linked glycosylation	biolink:OntologyClass	mondo			regulation of protein amino acid O-linked glycosylation	http://purl.obolibrary.org/obo/GO_1904098	Any process that modulates the frequency, rate or extent of protein O-linked glycosylation.	
MONDO:0008082	multiple endocrine neoplasia type 2B	biolink:Disease	mondo	MESH:D018814|ICD10:D44.8|MedDRA:10056420|GARD:0010225|SCTID:61530001|Orphanet:247709|UMLS:C0025269|ICD10:E31.23|NCIT:C3227|ICD9:237.4|OMIM:162300|DOID:10016|ICD9:258.03	ordo_clinical_subtype|gard_rare	MEN2B|mucosal Neuroma syndrome|multiple endocrine neoplasia type 3|multiple endocrine neoplasia type IIB|men type IIB|multiple endocrine neoplasia, type 2B|MEN2B|multiple endocrine neoplasia, type IIB; MEN2B|multiple endocrine neoplasia, type IIB|multiple endocrine neoplasia, type III, formerly|multiple endocrine adenomatosis type IIB|Neuromata, mucosal, with endocrine tumors|multiple endocrine neoplasia type 2B|men type 2B|men 2B|Wagenmann-Froboese syndrome|multiple endocrine neoplasia type III|mucosal neuroma syndrome|men IIB|multiple endocrine neoplasia, type 3 (formerly)|multiple endocrine neoplasia, type III|multiple endocrine neoplasia, type 3	http://purl.obolibrary.org/obo/MONDO_0008082	Multiple endocrine neoplasia 2B (MEN2B) syndrome is a rare aggressive form of MEN2 characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal ganglioneuroma, and marfanoid habitus.	DOID:10016|ORPHA:247709|http://identifiers.org/omim/162300|MEDDRA:10056420|MESH:D018814|SNOMEDCT:61530001|NCIT:C3227|UMLS:C0025269
MONDO:0008083	neuronal ceroid lipofuscinosis 4B	biolink:Disease	mondo	GARD:0001222|OMIM:162350|ICD10:E75.4|UMLS:C4284284|Orphanet:228343|NCIT:C128116|UMLS:C1834207|DOID:0110720	ordo_etiological_subtype	autosomal dominant Kufs disease|neuronal ceroid lipofuscinosis type 4B|Kuf's disease, autosomal dominant|ceroid lipofuscinosis, neuronal, 4B, autosomal dominant; CLN4B|neuronal ceroid lipofuscinosis, parry type|Kuf's disease type B|autosomal dominant neuronal ceroid lipofuscinosis 4B|ceroid lipofuscinosis, neuronal, parry type|adult neuronal ceroid lipofuscinosis 4B|CLN4B disease|CLN4B|Kufs disease, autosomal dominant|ceroid lipofuscinosis, neuronal, 4B, autosomal dominant|neuronal ceroid lipofuscinosis 4 parry type	http://purl.obolibrary.org/obo/MONDO_0008083	A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.	http://identifiers.org/omim/162350|UMLS:C1834207|ORPHA:228343|NCIT:C128116|UMLS:C4284284|DOID:0110720
HP:0002624	Abnormal venous morphology	biolink:PhenotypicFeature	mondo	UMLS:C0241665		Abnormal vein|Venous abnormality	http://purl.obolibrary.org/obo/HP_0002624	An anomaly of vein.	
MONDO:0008080	neurofibromatosis, type III, mixed central and peripheral	biolink:Disease	mondo	SCTID:254240003|OMIM:162260|MESH:C537389		neurofibromatosis, type III, of Riccardi|neurofibromas, palmar cutaneous|neurofibromatosis, type III, mixed central and peripheral|Nf 3|NF3A|neurofibromatosis, type III, mixed central and peripheral; NF3A|neurofibromatosis, type III, Riccardi type	http://purl.obolibrary.org/obo/MONDO_0008080		MESH:C537389|SNOMEDCT:254240003|http://identifiers.org/omim/162260
NCBITaxon:242060	Cystoisospora	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_242060		
MONDO:0008081	neurofibromatosis, type IV, of Riccardi	biolink:Disease	mondo	MESH:C537392|OMIM:162270		neurofibromatosis, atypical|type IV neurofibromatosis of Riccardi|neurofibromatosis, type IV, of Riccardi|NF4|Nf 4|neurofibromatosis type 4|neurofibromatosis type IV|neurofibromatosis, variant form(S) of|neurofibromatosis, type IV, of RICCARDI; NF4	http://purl.obolibrary.org/obo/MONDO_0008081		MESH:C537392|http://identifiers.org/omim/162270
MONDO:0023696	Marinesco-Sjogren-like syndrome	biolink:Disease	mondo	MESH:C535913|UMLS:C0796036|GARD:0008745	gard_rare	Marinesco-Sjogren-like syndrome (MSLS)|juvenile cataract, cerebellar atrophy, intellectual disability, and myopathy|juvenile cataract, cerebellar atrophy, mental retardation, and myopathy	http://purl.obolibrary.org/obo/MONDO_0023696	A disease with similar features to Marinesco-Sjogren syndrome.	UMLS:C0796036|MESH:C535913
MONDO:0023699	Maroteaux Fonfria syndrome	biolink:Disease	mondo	GARD:0003397|MESH:C536023|UMLS:C2931088	gard_rare	apparent apert syndrome with polydactyly|apert syndrome with polydactyly of hands and feet	http://purl.obolibrary.org/obo/MONDO_0023699		UMLS:C2931088|MESH:C536023
MONDO:0021039	extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor	biolink:Disease	mondo	EFO:1000250|UMLS:C1333514|NCIT:C27293|DOID:4985		extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor|extraosseous Ewings sarcoma-primitive neuroepithelial tumor|extraosseous Ewing sarcoma/peripheral primitive neuroectodermal tumor|extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor|extraosseous Ewing's tumor	http://purl.obolibrary.org/obo/MONDO_0021039	A spectrum of malignant tumors arising from the soft tissues, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms.	NCIT:C27293|UMLS:C1333514|DOID:4985
MONDO:0021038	Ewing sarcoma/peripheral primitive neuroectodermal tumor	biolink:Disease	mondo	NCIT:C27291|UMLS:C3536893		Ewing sarcoma/peripheral PNET|tumors of Ewing's family|Ewing's family of tumors|tumors of the Ewing's family|Ewing's family of tumours|EFTs|Ewing sarcoma family of tumors|Ewing's sarcoma/peripheral primitive neuroectodermal tumor|Ewing family of tumors|Ewing sarcoma/peripheral primitive neuroectodermal tumor	http://purl.obolibrary.org/obo/MONDO_0021038	A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms.	NCIT:C27291|UMLS:C3536893
HGNC:12827	XPR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12827		
MONDO:0008059	Naegeli-Franceschetti-Jadassohn syndrome	biolink:Disease	mondo	UMLS:C0343111|DOID:0111528|ICD10:Q82.4|GARD:0003912|SCTID:239084001|OMIM:161000|MESH:C538331|Orphanet:69087	ordo_disease	reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy|Naegeli-Franceschetti-Jadassohn syndrome|Nfj syndrome|Naegeli syndrome|NFJ syndrome|NFJS|NAEGELI syndrome|NAEGELI-Franceschetti-Jadassohn syndrome; NFJS	http://purl.obolibrary.org/obo/MONDO_0008059	Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth.	UMLS:C0343111|DOID:0111528|SNOMEDCT:239084001|http://identifiers.org/omim/161000|MESH:C538331|ORPHA:69087
MONDO:0021037	obsolete genetic neurodegenerative disease with dementia	biolink:Disease	mondo	UMLS:CN202589|Orphanet:276058		genetic neurodegenerative disease with dementia	http://purl.obolibrary.org/obo/MONDO_0021037	An instance of neurodegenerative disease with dementia that is caused by a modification of the individual's genome.	ORPHA:276058|UMLS:CN202589
MONDO:0021036	keratosis pilaris	biolink:Disease	mondo	SCTID:5132005|NCIT:C124070		KP	http://purl.obolibrary.org/obo/MONDO_0021036	A form of dry skin characterised by hair follicles plugged by scale.	SNOMEDCT:5132005|NCIT:C124070
MONDO:0008057	Carney complex, type 1	biolink:Disease	mondo	OMIM:160980		PRKAR1A Carney complex|Carney complex caused by mutation in PRKAR1A|Carney complex, type 1|Carney complex, type 1; CNC1|myxoma, spotty pigmentation, and endocrine overactivity|Carney Myxoma-endocrine Complex|CNC1|lamb syndrome|name syndrome|Carney syndrome	http://purl.obolibrary.org/obo/MONDO_0008057	Any Carney complex in which the cause of the disease is a mutation in the PRKAR1A gene.	http://identifiers.org/omim/160980
MONDO:0021035	alopecia-intellectual disability syndrome 1	biolink:Disease	mondo	DOID:0080628|UMLS:C1859878|OMIM:203650		alopecia-intellectual disability syndrome 1|alopecia-mental retardation syndrome 1|APMR|alopecia-intellectual disability syndrome 1; APMR1|APMR1|alopecia-mental retardation syndrome 1; APMR1	http://purl.obolibrary.org/obo/MONDO_0021035		UMLS:C1859878|DOID:0080628|http://identifiers.org/omim/203650
MONDO:0008058	cylindrical spirals myopathy	biolink:Disease	mondo	SCTID:764525006|DOID:0080103|ICD10:G71.2|OMIM:160990|GARD:0011906|Orphanet:171886|MESH:C563535|UMLS:C1834418	ordo_disease|gard_rare	myotonic myopathy with cylindrical spirals	http://purl.obolibrary.org/obo/MONDO_0008058	Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated.	MESH:C563535|SNOMEDCT:764525006|UMLS:C1834418|ORPHA:171886|http://identifiers.org/omim/160990|DOID:0080103
MONDO:0023691	maple syrup urine disease type 1A	biolink:Disease	mondo	GARD:0008594	gard_rare	MSUD type 1A	http://purl.obolibrary.org/obo/MONDO_0023691	A maple syrup urine disease caused by mutations in BCKDHA.	
MONDO:0021034	genetic alopecia	biolink:Disease	mondo	Orphanet:481771		genetic alopecia	http://purl.obolibrary.org/obo/MONDO_0021034	An instance of alopecia that is caused by a modification of the individual's genome.	ORPHA:481771
ECTO:3000001	exposure to Viruses	biolink:OntologyClass	mondo			Viruses exposure	http://purl.obolibrary.org/obo/ECTO_3000001	A history of exposure to Viruses.	
MONDO:0023692	maple syrup urine disease type 1B	biolink:Disease	mondo	GARD:0008597	gard_rare	MSUD type IB|MSUD due to deficiency of E1-beta subunit of branched-chain alpha-keto acid dehydrogenase complex|MSUD type 3 (formerly)	http://purl.obolibrary.org/obo/MONDO_0023692	A maple syrup urine disease caused by mutations in BCKDHB.	
MONDO:0021033	herpes zoster dermatitis	biolink:Disease	mondo	NCIT:C35619		herpes zoster dermatitis	http://purl.obolibrary.org/obo/MONDO_0021033	Painful, localized rash caused by reactivation of latent varicella zoster virus residing in nerve cell bodies, with resulting infection of the skin in the region supplied by the affected nerve.	NCIT:C35619
MONDO:0008055	myotonia congenita, autosomal dominant	biolink:Disease	mondo	OMIM:160800|SCTID:8960007|ICD9:359.29		myotonia Levior|Thomsen disease|myotonia congenita, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008055		http://identifiers.org/omim/160800|SNOMEDCT:8960007
ECTO:3000000	exposure to organism	biolink:OntologyClass	mondo			organism exposure	http://purl.obolibrary.org/obo/ECTO_3000000	A history of exposure to organism.	
MONDO:0008056	myotonic dystrophy type 1	biolink:Disease	mondo	ICD9:359.21|Orphanet:273|NCIT:C84679|DOID:11722|ICD10:G71.11|GARD:0008310|ICD10:G71.1|OMIM:160900	ordo_disease	myotonic dystrophy 1; DM1|DM1|DMPK myotonic dystrophy|MD1|myotonic dystrophy of Steinert|DM1|myotonic dystrophy type 1|Steinert myotonic dystrophy|myotonic dystrophy 1|Steinert disease|Steinert's disease|Steinert myotonic dystrophy syndrome|congenital myotonic dystrophy|myotonic dystrophy caused by mutation in DMPK|Steinert syndrome|dystrophia myotonica|dystrophia myotonica type 1|dystrophia myotonica 1	http://purl.obolibrary.org/obo/MONDO_0008056	Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.	ORPHA:273|UMLS:C2931688|DOID:11722|NCIT:C84679|MESH:C538008|http://identifiers.org/omim/160900
MONDO:0023693	maple syrup urine disease type 2	biolink:Disease	mondo	GARD:0008596|HGNC:2698	gard_rare	MSUD type 2|MSUD2	http://purl.obolibrary.org/obo/MONDO_0023693	A maple syrup urine disease caused by mutations in DBT.	
MONDO:0021032	herpes zoster with dermatitis of eyelid	biolink:Disease	mondo	UMLS:C0019362|ICD9:053.20|NCIT:C34696|SCTID:186525007		Herpes zoster dermatitis of eyelids|Herpes zoster with dermatitis of eyelid|herpes zoster with dermatitis of eyelid|herpes zoster dermatitis of eyelid|Herpes Zoster Dermatitis of Eyelid|herpes zoster dermatitis of eyelids	http://purl.obolibrary.org/obo/MONDO_0021032	A form of herpes zoster infection characterized by dermatitis of the skin of the eyelid due to reactivation of latent virus associated with the ophthalmic branch of the trigeminal nerve.	SNOMEDCT:186525007|NCIT:C34696|UMLS:C0019362
HGNC:12829	XRCC2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12829		
MONDO:0008053	MYP2	biolink:Disease	mondo	OMIM:160700|UMLS:C1834531|MESH:C563541		myopia 2, autosomal dominant; MYP2|MYP2|myopia 2, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008053		MESH:C563541|UMLS:C1834531|http://identifiers.org/omim/160700
HGNC:12831	XRCC4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12831		
MONDO:0008054	juvenile dermatomyositis	biolink:Disease	mondo	UMLS:C2931785|MedDRA:10008521|ICD10:M33.0|MESH:C000598745|Orphanet:93672|SCTID:1212005|EFO:0000557|NCIT:C27576|GARD:0006805|DOID:14203|OMIM:160750	gard_rare|ordo_disease	childhood dermatomyositis|myopathy, familial idiopathic inflammatory|myoseptum inflammation|juvenile myositis|inflammation of myoseptum|juvenile DM|childhood type dermatomyositis|myoseptumitis|JPM|juvenile dermatomyositis|myositis|JDM	http://purl.obolibrary.org/obo/MONDO_0008054	Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, evocative skin lesion, and systemic manifestations.	DOID:14203|UMLS:C0263666|NCIT:C27576|UMLS:C2931785|ORPHA:93672|MESH:C000598745|MEDDRA:10008521|MESH:C538250|http://identifiers.org/omim/160750|SNOMEDCT:1212005
HGNC:12830	XRCC3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12830		
MONDO:0008051	tubular aggregate myopathy	biolink:Disease	mondo	GARD:0003884|ICD10:G71.2|OMIMPS:160565|Orphanet:2593|DOID:0080089	ordo_disease|gard_rare|prototype_pattern	myopathy, tubular aggregate, type 1|TAM1|myopathy, tubular aggregate, 1	http://purl.obolibrary.org/obo/MONDO_0008051	Tubular aggregate myopathy is a disorder that affects the skeletal muscles. Signs and symptoms typically begin in childhood and worsen over time. The leg muscles are most often affected, but the arm muscles may also be involved. Symptoms include muscle pain, cramping, weakness or stiffness; and exercise-induced muscle fatigue. Affected individuals may have an unusual walking style (gait) or difficulty running, climbing stairs, or getting up from a squatting position. Some individuals develop contractures. This condition may be caused by mutations in the STIM1 or ORAI1 genes. It is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has also been reported.	DOID:0080089|ORPHA:2593
MONDO:0008052	myopathy with storage of glycoproteins and Glycosaminoglycans	biolink:Disease	mondo	UMLS:C1834532|OMIM:160570|MESH:C563542		myopathy with storage of glycoproteins and Glycosaminoglycans	http://purl.obolibrary.org/obo/MONDO_0008052		MESH:C563542|UMLS:C1834532|http://identifiers.org/omim/160570
MONDO:0008050	Laing early-onset distal myopathy	biolink:Disease	mondo	ICD10:G71.0|DOID:0070197|SCTID:764859001|UMLS:CN074249|Orphanet:59135|GARD:0010769|OMIM:160500	ordo_disease	myopathy, late distal hereditary|MYH7-related skeletal myopathy|myosin storage myopathy|Laing distal myopathy|myopathy, distal, 1|Gowers disease|MPD1|myopathy, distal, type 1|myopathy, distal, 1; MPD1|distal myopathy type 1|myopathy, distal, early-onset, autosomal dominant|myopathy distal, type 1	http://purl.obolibrary.org/obo/MONDO_0008050	Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course.	SNOMEDCT:764859001|ORPHA:59135|DOID:0070197|http://identifiers.org/omim/160500|UMLS:CN074249
MONDO:0021029	genetic sebaceous gland anomaly	biolink:Disease	mondo	Orphanet:183460		genetic sebaceous gland anomaly	http://purl.obolibrary.org/obo/MONDO_0021029	An instance of sebaceous gland anomaly that is caused by a modification of the individual's genome.	ORPHA:183460
GO:0015276	ligand-gated ion channel activity	biolink:OntologyClass	mondo			ionotropic receptor activity	http://purl.obolibrary.org/obo/GO_0015276	Enables the transmembrane transfer of an ion by a channel that opens when a specific ligand has been bound by the channel complex or one of its constituent parts.	
MONDO:0021020	Crigler-Najjar syndrome type 1	biolink:Disease	mondo	OMIM:218800|ICD10:E80.5|Orphanet:79234|GARD:0000047|MedDRA:10057034|SCTID:8933000	gard_rare|ordo_clinical_subtype	bilirubin-UGT deficiency type 1|bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1|hyperbilirubinemia, Crigler-Najjar type 1|UGT deficiency type 1|hereditary unconjugated hyperbilirubinemia type 1|Crigler-Najjar syndrome, type 1|Crigler Najjar syndrome, type 1|Crigler-Najjar syndrome, type I	http://purl.obolibrary.org/obo/MONDO_0021020	Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS, a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT).	UMLS:C2931131|SNOMEDCT:8933000|http://identifiers.org/omim/218800|MESH:C536212|ORPHA:79234|MEDDRA:10057034
NCBITaxon:848	Fusobacterium	organism taxon	mondo	PMID:11931161|PMID:1715737|GC_ID:11		Fusibacterium	http://purl.obolibrary.org/obo/NCBITaxon_848		
GO:0015291	secondary active transmembrane transporter activity	biolink:OntologyClass	mondo			coupled carrier|secondary carrier-type facilitators|heavy metal ion porter activity|energizer of outer membrane receptor-mediated transport activity|ion-gradient-driven energizer activity|galactose/glucose (methylgalactoside) porter activity|porters|electrochemical potential-driven transporter activity|multidrug endosomal transmembrane transporter activity|nitrite/nitrate porter activity|porter activity|active transporter	http://purl.obolibrary.org/obo/GO_0015291	Enables the transfer of a solute from one side of a membrane to the other, up its concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction and is driven by a chemiosmotic source of energy, not direct ATP coupling. Secondary active transporters include symporters and antiporters.	
MONDO:0021028	genetic nail anomaly	biolink:Disease	mondo	Orphanet:183454		genetic nail anomaly	http://purl.obolibrary.org/obo/MONDO_0021028	An instance of nail anomaly that is caused by a modification of the individual's genome.	ORPHA:183454
MONDO:0021027	genetic hair anomaly	biolink:Disease	mondo	Orphanet:183450		genetic hair anomaly	http://purl.obolibrary.org/obo/MONDO_0021027	An instance of hair anomaly that is caused by a modification of the individual's genome.	ORPHA:183450
MONDO:0021026	genetic epidermal appendage anomaly	biolink:Disease	mondo	Orphanet:183447		genetic epidermal appendage anomaly	http://purl.obolibrary.org/obo/MONDO_0021026	An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome.	ORPHA:183447
MONDO:0021025	cirrhosis, familial, with antigenemia	biolink:Disease	mondo	OMIM:118900		cirrhosis, familial	http://purl.obolibrary.org/obo/MONDO_0021025		http://identifiers.org/omim/118900
MONDO:0021024	malaria, susceptibility to	biolink:Disease	mondo	OMIM:611162	predisposition	malaria, cerebral, resistance to|malaria, cerebral, susceptibility to|malaria, Severe, resistance to|malaria, Severe, susceptibility to|malaria, resistance to|malaria, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0021024		http://identifiers.org/omim/611162
MONDO:0008068	navicular bone, accessory	biolink:Disease	mondo	OMIM:161600|MESH:C536002|GARD:0008543		navicular bone, accessory	http://purl.obolibrary.org/obo/MONDO_0008068		http://identifiers.org/omim/161600|MESH:C536002
MONDO:0008069	necrotizing encephalomyelopathy, subacute, of Leigh, adult	biolink:Disease	mondo	MESH:C563530|OMIM:161700|UMLS:C1834340		Leigh syndrome, adult|necrotizing encephalomyelopathy, subacute, of Leigh, adult	http://purl.obolibrary.org/obo/MONDO_0008069		MESH:C563530|UMLS:C1834340|http://identifiers.org/omim/161700
MONDO:0021023	complete androgen insensitivity syndrome	biolink:Disease	mondo	Orphanet:99429|SCTID:368851000119102|GARD:0010597|ICD10:E34.51|UMLS:CN207337|ICD10:E34.5|NCIT:C120191	ordo_disease|gard_rare	CAIS|complete androgen resistance syndrome|androgen insensitivity syndrome, complete	http://purl.obolibrary.org/obo/MONDO_0021023	Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens.	ORPHA:99429|NCIT:C120191|SNOMEDCT:368851000119102|UMLS:CN207337
MONDO:0021022	hereditary hyperekplexia	biolink:Disease	mondo	ICD10:G25.8|GARD:0003129|SCTID:724351008|DOID:0060695|OMIMPS:149400|Orphanet:3197	ordo_disease	congenital stiff man syndrome|hyperexplexia hereditary|Stiff baby syndrome|familial startle disease|startle disease|Kok disease|hereditary hyperexplexia|hyperekplexia|hereditary hyperekplexia	http://purl.obolibrary.org/obo/MONDO_0021022	Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.	DOID:0060695|ORPHA:3197|SNOMEDCT:724351008
HP:0002607	Bowel incontinence	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:72042002|UMLS:C0015732|MSH:D005242		Anal incontinence|Loss of bowel control|Fecal incontinence	http://purl.obolibrary.org/obo/HP_0002607	Involuntary fecal soiling in adults and children who have usually already been toilet trained.	
MONDO:0008066	nasal hyperpigmentation, familial transverse	biolink:Disease	mondo	UMLS:C1834369|OMIM:161530		nasal hyperpigmentation, familial transverse	http://purl.obolibrary.org/obo/MONDO_0008066		http://identifiers.org/omim/161530|UMLS:C1834369
MONDO:0021021	craniodiaphyseal dysplasia, autosomal dominant	biolink:Disease	mondo	MESH:C567275|OMIM:122860|GARD:0000249		craniodiaphyseal dysplasia, autosomal dominant; CDD|dominantly inherited craniodiaphyseal dysplasia|craniodiaphyseal dysplasia, autosomal dominant|craniodiaphyseal dysplasia, dominant|Schaefer Stein Oshman syndrome|CDD	http://purl.obolibrary.org/obo/MONDO_0021021		http://identifiers.org/omim/122860|MESH:C567275
MONDO:0023682	tympanic paraganglioma	biolink:Disease	mondo	NCIT:C8428|UMLS:C0474820|GTR:AN0102048|SCTID:253031000|GTR:AN0102047|MESH:D043604		tympanic paraganglioma|Glomus tympanicum paraganglioma|Tumor, Glomus Tympanicum|Tympanic Paraganglioma|Tympanic paraganglioma|Glomus Tympanicum Tumors|Tumors, Glomus Tympanicum|Glomus tympanicum tumor|Glomus Tympanicum Tumor	http://purl.obolibrary.org/obo/MONDO_0023682	A benign or malignant middle ear paraganglioma arising from paraganglia around the tympanum. Signs and symptoms include a mass behind the tympanum, tinnitus, and conductive hearing loss.	MESH:D043604|NCIT:C8428|SNOMEDCT:253031000|UMLS:C0474820
MONDO:0008067	nasopharyngeal carcinoma, susceptibility to, 2	biolink:Disease	mondo	UMLS:C2750548|OMIM:161550|GARD:0007163	predisposition	nasopharyngeal carcinoma, susceptibility to, 2|nasopharyngeal carcinoma, susceptibility to, 2; NPCA2|Npca2|nasopharyngeal carcinoma, susceptibility to, type 2	http://purl.obolibrary.org/obo/MONDO_0008067		UMLS:C2750548|http://identifiers.org/omim/161550
MONDO:0008064	nasal bones, absence of	biolink:Disease	mondo	UMLS:C4082198|MESH:C562753|OMIM:161480		nasal bones, absence of	http://purl.obolibrary.org/obo/MONDO_0008064		UMLS:C4082198|MESH:C562753|http://identifiers.org/omim/161480
MONDO:0008065	nasal groove, familial transverse	biolink:Disease	mondo	OMIM:161500|UMLS:C1834370		nasal groove, familial transverse	http://purl.obolibrary.org/obo/MONDO_0008065		UMLS:C1834370|http://identifiers.org/omim/161500
MONDO:0008062	narcolepsy 1	biolink:Disease	mondo	OMIM:161400|SCTID:46263000|UMLS:C1834372|NCIT:C84618		narcoleptic syndrome 1|cataplexy|narcolepsy 1; NRCLP1|narcolepsy caused by mutation in HCRT|HCRT narcolepsy|NRCLP1|narcolepsy 1|narcolepsy type 1	http://purl.obolibrary.org/obo/MONDO_0008062	A rare disorder characterized by sudden and transient episodes of loss of muscle tone. It often follows an experience of intense emotions. It is seen in patients with narcolepsy.	http://identifiers.org/omim/161400|UMLS:C1834372|NCIT:C84618|SNOMEDCT:46263000
HGNC:12840	YARS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12840		
MONDO:0008063	nasal alar collapse, bilateral	biolink:Disease	mondo	UMLS:C1834371|OMIM:161470|MESH:C563533		nasal alar collapse, bilateral	http://purl.obolibrary.org/obo/MONDO_0008063		MESH:C563533|http://identifiers.org/omim/161470|UMLS:C1834371
MONDO:0008060	nonsyndromic congenital nail disorder 1	biolink:Disease	mondo	SCTID:238719003|ICD10:L60.3|GARD:0010363|OMIM:161050|UMLS:C0406443|OMIM:614157|Orphanet:280654|ICD9:703.8|DOID:0080079|DOID:0080088|UMLS:C3279974|MESH:C562907|ICD10:Q84.6|Orphanet:79153	ordo_disease	FZD6 inherited isolated nail anomaly|autosomal dominant nail dysplasia|idiopathic trachyonychia|claw-Shaped nails|autosomal recessive nail dysplasia|nail disorder, nonsyndromic congenital, 1|nonsyndromic congenital nail disorder 10|nail Growth|nonsyndromic congenital nail disorder type 10|nonsyndromic congenital nail disorder type 1|onychodystrophy totalis|inherited isolated nail anomaly caused by mutation in FZD6|onychauxis, hyponychia, and onycholysis|nail disorder, nonsyndromic congenital, 10; NDNC10|trachyonychia|nail disorder, nonsyndromic congenital, type 10|twenty-nail dystrophy|nail disorder, nonsyndromic congenital 1|nail disorder, nonsyndromic congenital, 1; NDNC1|onychodystrophy totalis, isolated|sandpaper nails|NDNC1|NDNC10|nail disorder, nonsyndromic congenital, 10|twenty nail dystrophy	http://purl.obolibrary.org/obo/MONDO_0008060	Nail dysplasia is an idiopathic nail dystrophy, beginning in early childhood, and characterised by excessive longitudinal striations and loss of nail luster affecting all 20 nails.	http://identifiers.org/omim/161050|ORPHA:280654|http://identifiers.org/omim/614157|MESH:C562907|UMLS:C0406443|DOID:0080079|DOID:0080088|ORPHA:79153|SNOMEDCT:238719003|UMLS:C3279974
MONDO:0008061	nail-patella syndrome	biolink:Disease	mondo	OMIM:161200|SCTID:22199006|ICD9:759.89|DOID:9467|MESH:D009261|MedDRA:10063431|Orphanet:2614|UMLS:C0027341|ICD10:Q87.2|NCIT:C75120|GARD:0007160	ordo_malformation_syndrome|gard_rare	NPS 1|hereditary onychoostedysplasia|Onychoosteodysplasia|Osteo-onychodysplasia|iliac horn syndrome|nail-patella syndrome|nail patella syndrome|Turner-Kieser syndrome|Turner-Kiser syndrome|hereditary Osteo-onychodysplasia|nail-patella syndrome; NPS|Arthro-onychodysplasia|NPS|Fong disease|Nps1	http://purl.obolibrary.org/obo/MONDO_0008061	Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.	DOID:9467|http://identifiers.org/omim/161200|UMLS:C0027341|SNOMEDCT:22199006|ORPHA:2614|MESH:D009261|NCIT:C75120|MEDDRA:10063431
MONDO:0021019	X-linked recessive ocular albinism	biolink:Disease	mondo	NCIT:C118785|ICD9:270.2|GARD:0008471|SCTID:78642008|OMIM:300500|ICD10:E70.3|UMLS:C0342684|Orphanet:54|MESH:C537863	ordo_disease	albinism, ocular, type I; OA1|ocular albinism type 1|X-linked ocular albinism|albinism, ocular, type I|albinism, ocular, type 1|Nettleship-Falls syndrome|OA1|ocular albinism, Nettleship-Falls type|XLOA|Nettleship-Falls type ocular albinism	http://purl.obolibrary.org/obo/MONDO_0021019	X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.	MESH:C537863|UMLS:C0342684|ORPHA:54|http://identifiers.org/omim/300500|SNOMEDCT:78642008|NCIT:C118785
MONDO:0021018	autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)	biolink:Disease	mondo	DOID:0110305|MESH:C566370|UMLS:C3501858|Orphanet:34516|ICD10:G71.0|OMIM:603511|GARD:0012528	ordo_disease	limb-girdle muscular dystrophy type 1D|muscular dystrophy limb-girdle type 1E|autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6|muscular dystrophy, limb-girdle, type 1D, formerly|muscular dystrophy, limb-girdle, type 1E|autosomal dominant limb-girdle muscular dystrophy type 1E|muscular dystrophy limb-girdle type 1D|muscular dystrophy, limb-girdle, type 1D|LGMD1E|muscular dystrophy, limb-girdle, type 1E; LGMD1E|DNAJB6 autosomal dominant limb-girdle muscular dystrophy|LGMD1D|LGMD1D (DNAJB6)|LGMD1E (Bushby and Beckmann, 2003)|autosomal dominant limb-girdle muscular dystrophy type 1D	http://purl.obolibrary.org/obo/MONDO_0021018	Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3.	UMLS:C3501858|DOID:0110305|http://identifiers.org/omim/603511|ORPHA:34516|MESH:C566370
HGNC:12843	YME1L1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12843		
NCBITaxon:5506	Fusarium	organism taxon	mondo	PMID:23379853|GC_ID:1		Gibberella	http://purl.obolibrary.org/obo/NCBITaxon_5506		
NCBITaxon:5501	Coccidioides immitis	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_5501		
UBERON:0019231	manual digit 1 or 5	biolink:AnatomicalEntity	mondo			lateral manual digit|outer manual digit|outermost manual digit|lateral finger	http://purl.obolibrary.org/obo/UBERON_0019231		
NCBITaxon:5500	Coccidioides	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_5500		
MONDO:0011603	GNE myopathy	biolink:Disease	mondo	Orphanet:602|SCTID:702382000|OMIM:605820|ICD10:G71.8|GARD:0009493	ordo_disease	Nonaka myopathy|inclusion body myopathy 2, autosomal recessive, formerly|DMRV|inclusion body myopathy autosomal recessive|inclusion body myopathy 2, autosomal recessive|distal myopathy, Nonaka type|inclusion body myopathy, autosomal recessive|myopathy, distal, with or without rimmed vacuoles|rimmed vacuole myopathy|QSM|Nonaka myopathy; NM|distal myopathy with rimmed vacuoles|Nonaka distal myopathy|hereditary inclusion body myopathy type 2|HIBM2|Nonaka myopathy|inclusion body myopathy, quadriceps-sparing|NM|quadriceps-sparing myopathy|quadriceps sparing myopathy|inclusion body myopathy, hereditary, autosomal recessive|inclusion body myopathy type 2|IBM2|myopathy, distal, with rimmed vacuoles	http://purl.obolibrary.org/obo/MONDO_0011603	Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps.	http://identifiers.org/omim/605820|ORPHA:602|MESH:C536816|SNOMEDCT:702382000
MONDO:0011602	autosomal recessive nonsyndromic deafness 27	biolink:Disease	mondo	ICD10:H90.3|DOID:0110485|OMIM:605818|UMLS:C1853941|MESH:C565287		deafness, autosomal recessive 27; DFNB27|autosomal recessive nonsyndromic deafness type 27|deafness, autosomal recessive 27|DFNB27|autosomal recessive deafness 27	http://purl.obolibrary.org/obo/MONDO_0011602	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q31.	http://identifiers.org/omim/605818|UMLS:C1853941|MESH:C565287|DOID:0110485
HGNC:12805	XDH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12805		
MONDO:0011605	generalized basaloid follicular hamartoma syndrome	biolink:Disease	mondo	SCTID:766928004|MESH:C565284|OMIM:605827|Orphanet:168632|ICD10:Q82.5|UMLS:C1853919	ordo_disease	basaloid follicular hamartoma syndrome, generalized, autosomal dominant|basaloid follicular hamartoma syndrome, generalized, autosomal dominant; GBFHS|GBFHS	http://purl.obolibrary.org/obo/MONDO_0011605	Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported.	http://identifiers.org/omim/605827|UMLS:C1853919|ORPHA:168632|SNOMEDCT:766928004|MESH:C565284
MONDO:0011604	spondylo-ocular syndrome	biolink:Disease	mondo	ICD10:Q87.5|OMIM:605822|Orphanet:85194|SCTID:715653007	ordo_malformation_syndrome	spondyloocular syndrome; SOS|spondyloocular syndrome|SOS	http://purl.obolibrary.org/obo/MONDO_0011604	Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.	http://identifiers.org/omim/605822|SNOMEDCT:715653007|ORPHA:85194
CHEBI:29412	oxonium	biolink:ChemicalSubstance	mondo			aquahydrogen(1+)|[OH3](+)|trihydridooxygen(1+)|oxidanium|H3O(+)|Hydronium cation|oxonium|Hydronium ion	http://purl.obolibrary.org/obo/CHEBI_29412		
MONDO:0011607	narcolepsy 2, susceptibility to	biolink:Disease	mondo	OMIM:605841|UMLS:C1853901	predisposition	NRCLP2|narcolepsy 2, susceptibility to; NRCLP2|narcolepsy 2, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0011607		http://identifiers.org/omim/605841|UMLS:C1853901
UBERON:0034873	bodily gas	biolink:AnatomicalEntity	mondo			gas in anatomical space|portion of gas in anatomical space	http://purl.obolibrary.org/obo/UBERON_0034873	Any substance in the body or expelled from the body that is in a gaseous state.	
MONDO:0011606	baby rattle pelvis dysplasia	biolink:Disease	mondo	MESH:C537794|MESH:C565282|UMLS:C1853911|GARD:0009289|OMIM:605838	gard_rare	baby rattle pelvic dysplasia|baby rattle pelvis dysplasia	http://purl.obolibrary.org/obo/MONDO_0011606		http://identifiers.org/omim/605838|UMLS:C1853911|MESH:C565282|MESH:C537794
MONDO:0011609	atopic dermatitis 6	biolink:Disease	mondo	OMIM:605845|UMLS:C1853899|DOID:0110102|MESH:C565279		dermatitis, ATOPIC, 6|atopic dermatitis type 6|dermatitis, ATOPIC, 6; ATOD6|ATOD6	http://purl.obolibrary.org/obo/MONDO_0011609	An atopic dermatitis associated with variation in the region 5q31-q33.	DOID:0110102|http://identifiers.org/omim/605845|UMLS:C1853899|MESH:C565279
UBERON:0034874	air in respiratory system	biolink:AnatomicalEntity	mondo			respiratory air|respiratory system air	http://purl.obolibrary.org/obo/UBERON_0034874	Any portion of gas located in a part of the respiratory system that is composed primarily of air.	
MONDO:0011608	atopic dermatitis 5	biolink:Disease	mondo	UMLS:C1853900|OMIM:605844|DOID:0110101|MESH:C565280		dermatitis, ATOPIC, 5|ATOD5|atopic dermatitis type 5|dermatitis, ATOPIC, 5; ATOD5	http://purl.obolibrary.org/obo/MONDO_0011608	An atopic dermatitis associated with variation in the region 13q12-q14.	http://identifiers.org/omim/605844|UMLS:C1853900|MESH:C565280|DOID:0110101
UBERON:0034875	future pituitary gland	biolink:AnatomicalEntity	mondo			pituitary primordium	http://purl.obolibrary.org/obo/UBERON_0034875		
UBERON:0007257	intervertebral disk of sacral vertebra	biolink:AnatomicalEntity	mondo			intervertebral disc of sacral region	http://purl.obolibrary.org/obo/UBERON_0007257	An intervertebral disk that is part of a sacral region of vertebral column. A sacral intervertebral disk connects at least one sacral vertebra, either to another thoracic vertebra, or at one point on the vertebral colummn, to a sacral vertebra	
UBERON:0010899	synchronous hermaphroditic organism	biolink:AnatomicalEntity	mondo			serially hermaphroditic organism|simultaneous hermaphroditic organism	http://purl.obolibrary.org/obo/UBERON_0010899	Hermaphroditic organism that produces both male and female gametes at the same time.	
UBERON:0007255	intervertebral disk of lumbar vertebra	biolink:AnatomicalEntity	mondo			intervertebral disc of lumbar region	http://purl.obolibrary.org/obo/UBERON_0007255	An intervertebral disk that is part of a lumbar region of vertebral column. A lumbar intervertebral disk connects at least one lumbar vertebra, either to another thoracic vertebra, or at one point on the vertebral colummn, to a sacral vertebra	
UBERON:0007254	intervertebral disk of thoracic vertebra	biolink:AnatomicalEntity	mondo			intervertebral disc of thoracic region	http://purl.obolibrary.org/obo/UBERON_0007254	An intervertebral disk that is part of a thoracic region of vertebral column. A thoracic intervertebral disk connects at least one thoracic vertebra, either to another thoracic vertebra, or at one point on the vertebral colummn, to a lumbar vertebra	
MONDO:0011610	dimethylglycine dehydrogenase deficiency	biolink:Disease	mondo	UMLS:C1853892|MESH:C565278|OMIM:605850|Orphanet:243343|SCTID:719449007|ICD10:E72.5	ordo_disease|n_of_one	DMG dehydrogenase deficiency|dimethylglycine dehydrogenase deficiency|DMGDH deficiency|Dmgdh deficiency|disorder of dimethylglycine dehydrogenase activity|disorder of dimethylglycine dehydrogenase activity|DMGDHD|dimethylglycine dehydrogenase deficiency; DMGDHD|dimethylglycine dehydrogenase activity disease	http://purl.obolibrary.org/obo/MONDO_0011610	Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor.	ORPHA:243343|MESH:C565278|SNOMEDCT:719449007|http://identifiers.org/omim/605850|UMLS:C1853892
GO:0042886	amide transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0042886	The directed movement of an amide, any compound containing one, two, or three acyl groups attached to a nitrogen atom, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
UBERON:0007252	intervertebral disk of cervical vertebra	biolink:AnatomicalEntity	mondo			intervertebral disc of cervical region|cervical intervertebral disc	http://purl.obolibrary.org/obo/UBERON_0007252	An intervertebral disk that is part of a cervical region of vertebral column. A cervical intervertebral disk connects at least one cervical vertebra, either to another cervical vertebra, or at one point on the vertebral colummn, to a thoracic vertebra	
MONDO:0011612	glycine encephalopathy	biolink:Disease	mondo	DOID:9268|ICD9:270.7|ICD10:E72.5|NCIT:C84937|GARD:0007219|UMLS:C0751748|ICD10:E72.51|OMIM:605899|Orphanet:407|SCTID:237939006	ordo_disease|gard_rare	glycine encephalopathy|hyperglycinemia, Nonketotic|NKA|hyperglycinemia, transient neonatal|nonketotic hyperglycinemia|hyperglycinemia nonketotic|GCE|non-ketotic hyperglycinemia|Glycine synthase deficiency|GLYCINE encephalopathy; GCE	http://purl.obolibrary.org/obo/MONDO_0011612	Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity.	SNOMEDCT:237939006|NCIT:C84937|ORPHA:407|UMLS:C0751748|http://identifiers.org/omim/605899|DOID:9268
HGNC:12811	XK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12811		
MONDO:0011611	short stature, mental retardation, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting	biolink:Disease	mondo	MESH:C566989|OMIM:605856|UMLS:C1970039		short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting|short stature, mental retardation, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting	http://purl.obolibrary.org/obo/MONDO_0011611		UMLS:C1970039|MESH:C566989|http://identifiers.org/omim/605856
GO:0005901	caveola	biolink:OntologyClass	mondo			caveolae|caveolar membrane	http://purl.obolibrary.org/obo/GO_0005901	A membrane raft that forms small pit, depression, or invagination that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane. Examples include flask-shaped invaginations of the plasma membrane in adipocytes associated with caveolin proteins, and minute pits or incuppings of the cell membrane formed during pinocytosis.  Caveolae may be pinched off to form free vesicles within the cytoplasm.	
UBERON:0019221	digit 1 or 5	biolink:AnatomicalEntity	mondo			outermost digit|outer digit|lateral digit	http://purl.obolibrary.org/obo/UBERON_0019221	Either of the outermost digits in a five-digit autopod, or their phylogenetic equivalent.	
CHEBI:30413	heme	biolink:ChemicalSubstance	mondo			hemes|Haem|haem|hem|heme|haeme|hemos	http://purl.obolibrary.org/obo/CHEBI_30413	A heme is any tetrapyrrolic chelate of iron.	
UBERON:0010890	pelvic complex muscle	biolink:AnatomicalEntity	mondo			pelvic girdle or posterior limb muscle|pelvic girdle or hind limb muscle|lower limb muscle|muscle of pelvic girdle and leg|pelvic girdle and hind limb muscles|muscle of lower limb	http://purl.obolibrary.org/obo/UBERON_0010890	Muscles of the pelvic girdle, hindlimb or pelvic fin.	
HGNC:12816	XPC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12816		
UBERON:0010891	pectoral complex muscle	biolink:AnatomicalEntity	mondo			muscle of upper limb|muscle of pectoral girdle and wing|pectoral girdle and fore limb muscles|muscle of pectoral girdle and limb|upper limb muscle	http://purl.obolibrary.org/obo/UBERON_0010891	A muscle of a pectoral girdle, pectoral fin or anterior limb.	
HGNC:12814	XPA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12814		
UBERON:0010893	median external naris	biolink:AnatomicalEntity	mondo			median nostril|nasohypophysial opening|median anterior naris	http://purl.obolibrary.org/obo/UBERON_0010893	Am unpaired external naris that lies in the midline of the head.	
UBERON:0034876	future neurohypophysis	biolink:AnatomicalEntity	mondo			neurohypohysial region|neurohypophyseal bud	http://purl.obolibrary.org/obo/UBERON_0034876	the outgrowth of neuroectoderm located on the floor of the embryonic hypothalamus that gives rise to the neurohypophysis (posterior lobe) of the pituitary gland	
UBERON:0007245	nuclear complex of neuraxis	biolink:AnatomicalEntity	mondo			nuclear complex|neural nuclei|cluster of neural nuclei	http://purl.obolibrary.org/obo/UBERON_0007245	Gray matter of the central nervous system which is a collection of clustered nuclei.	
UBERON:0034878	prechordal mesoderm	biolink:AnatomicalEntity	mondo			prechordal mesenchyme	http://purl.obolibrary.org/obo/UBERON_0034878	the area of axial mesoderm that develops into the prechordal plate	
UBERON:0010885	hindlimb cartilage element	biolink:AnatomicalEntity	mondo			hindlimb cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0010885	A cartilaginous condensation that has the potential to develop into a hindlimb bone.	
UBERON:0007243	tunica media of vein	biolink:AnatomicalEntity	mondo			venous media|tunica media (venae)	http://purl.obolibrary.org/obo/UBERON_0007243	A tunica media that is part of a vein.	
UBERON:0010886	hindlimb pre-cartilage condensation	biolink:AnatomicalEntity	mondo			hindlimb pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0010886	A pre-cartilage condensation that has the potential to develop into a hindlimb bone.	
UBERON:0007242	tunica intima of vein	biolink:AnatomicalEntity	mondo			tunica interna (intima)(venae)|venous intima	http://purl.obolibrary.org/obo/UBERON_0007242	A tunica intima that is part of a vein.	
UBERON:0007241	tunica adventitia of vein	biolink:AnatomicalEntity	mondo			tunica externa (adventitia)(venae)|venous adventitia	http://purl.obolibrary.org/obo/UBERON_0007241	A tunica adventitia that is part of a vein.	
HGNC:12823	XPNPEP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12823		
MONDO:0011601	neonatal intrahepatic cholestasis due to citrin deficiency	biolink:Disease	mondo	ICD10:E72.2|MESH:C536398|UMLS:C1853942|OMIM:605814|UMLS:C4274030|Orphanet:247598|GARD:0010214|SCTID:717155003	ordo_disease	neonatal-onset citrullinemia type II|neonatal intrahepatic cholestasis caused by citrin deficiency|NICCD|cholestasis, neonatal intrahepatic, caused by citrin deficiency|neonatal-onset citrullinemia type 2|citrullinemia, type II, neonatal-onset|citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidemia	http://purl.obolibrary.org/obo/MONDO_0011601	Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.	http://identifiers.org/omim/605814|ORPHA:247598|UMLS:C1853942|UMLS:C4274030|SNOMEDCT:717155003|MESH:C536398
UBERON:0007240	tunica adventitia of artery	biolink:AnatomicalEntity	mondo			arterial adventitia|tunica externa (adventitia)(arteriae)	http://purl.obolibrary.org/obo/UBERON_0007240	A tunica adventitia that is part of a artery.	
MONDO:0011600	congenital myasthenic syndrome 4A	biolink:Disease	mondo	UMLS:C1853949|DOID:0110678|OMIM:605809		congenital myasthenic syndrome 4A slow-channel|myasthenic syndrome, congenital, 4A, slow-channel|CMS1A1|congenital myasthenic syndrome type 4A|congenital myasthenic syndrome type Ia1, formerly|CMS4A|Cms Ia1, formerly|congenital myasthenic syndrometype Ia1|congenital myasthenic syndrome type Ia1|Cms Ia1|CMS Ia1|myasthenic syndrome, congenital, 4A, slow-channel; CMS4A	http://purl.obolibrary.org/obo/MONDO_0011600	A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.	UMLS:C1853949|DOID:0110678|http://identifiers.org/omim/605809
CHEBI:30411	cobalamin	biolink:ChemicalSubstance	mondo			cobalamin|COBALAMIN|Coalpha-[alpha-(5,6-dimethylbenzimidazolyl)]-cobamide	http://purl.obolibrary.org/obo/CHEBI_30411	A cobalt-corrinoid hexaamide that is cobalamin with the oxidation state of the central cobalt atom unspecified.	
UBERON:0007247	nucleus of superior olivary complex	biolink:AnatomicalEntity	mondo			superior olivary complex nucleus	http://purl.obolibrary.org/obo/UBERON_0007247	Any of the nuclei that comprise the superior olivary complex (superior olive). This includes both the primary nuclei such as the lateral and medial nuclei, as well as periolivary nuclei.	
HGNC:3133	EBP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3133		
UBERON:0010883	forelimb cartilage element	biolink:AnatomicalEntity	mondo			forelimb wing cartilaginous condensation|wing cartilaginous condensation	http://purl.obolibrary.org/obo/UBERON_0010883	A cartilaginous condensation that has the potential to develop into a forelimb bone.	
UBERON:0010884	forelimb bone pre-cartilage condensation	biolink:AnatomicalEntity	mondo			wing bone pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0010884	A pre-cartilage condensation that has the potential to develop into a forelimb bone.	
UBERON:0010881	limb cartilage element	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010881	A skeletal element that is part of a limb and composed of cartilage tissue.	
UBERON:0010882	limb bone pre-cartilage condensation	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010882	A skeletal element that is part of a limb and composed of pre-cartilage tissue.	
HGNC:3143	EBVS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3143		
NCBITaxon:27479	Reduviidae	organism taxon	mondo	GC_ID:1		assassin bugs	http://purl.obolibrary.org/obo/NCBITaxon_27479		
UBERON:0009891	facial mesenchyme	biolink:AnatomicalEntity	mondo			face mesenchyme|mesenchyme of face	http://purl.obolibrary.org/obo/UBERON_0009891	Mesenchyme that is part of a developing face.	
HGNC:3148	TYMP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3148		
UBERON:0007239	tunica media of artery	biolink:AnatomicalEntity	mondo			arterial media|tunica media (arteriae)	http://purl.obolibrary.org/obo/UBERON_0007239	A tunica media that is part of a artery.	
HGNC:3147	ECEL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3147		
UBERON:0007238	1st arch maxillary component	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0007238		
HGNC:3146	ECE1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3146		
UBERON:0007237	1st arch mandibular component	biolink:AnatomicalEntity	mondo			ventral visceral arch 1|ventral mandibular arch|ventral pharyngeal arch 1	http://purl.obolibrary.org/obo/UBERON_0007237		
UBERON:0019206	tongue papilla epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0019206		
UBERON:0019207	chorioretinal region	biolink:AnatomicalEntity	mondo			choroid and retina|retinachoroidal region|chorioretina|retinachoroid	http://purl.obolibrary.org/obo/UBERON_0019207	The part of the eye that consists of both the retina and the optic choroid	
UBERON:0019204	skin epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0019204	Any region of epithelium that is part of a skin region.	
UBERON:0034898	alveolar ridge of premaxilla	biolink:AnatomicalEntity	mondo			pars dentalis of premaxilla	http://purl.obolibrary.org/obo/UBERON_0034898	The thickened ridge of bone that contains the tooth sockets on the premaxilla.	
UBERON:0009887	interlobar vein	biolink:AnatomicalEntity	mondo			venae interlobares renis|set of interlobar veins of kidney|interlobar vein of kidney|venae interlobares renis|interlobar veins of kidney	http://purl.obolibrary.org/obo/UBERON_0009887	The interlobar veins are veins of the renal circulation which drain the renal lobes.	
UBERON:0007223	osseus cochlea	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0007223	The osseous cochlea is the bony foundation that forms the small shell arrangement for the cochlear nerve.	
HGNC:3153	ECM1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3153		
UBERON:0009889	secondary heart field	biolink:AnatomicalEntity	mondo			SHF|anterior/second heart field|anterior heart field|second heart field	http://purl.obolibrary.org/obo/UBERON_0009889	A specific region of the lateral mesoderm that will form the majority of the mesodermal component of the right ventricle, arterial pole (outflow tract) and venous pole (inflow tract).	
HGNC:3151	ECHS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3151		
UBERON:0007220	late embryonic stage	biolink:AnatomicalEntity	mondo			embryo late growth stage|fetus|fetus stage|fetal stage|embryo late stage|embryo late (growth) stage	http://purl.obolibrary.org/obo/UBERON_0007220	An embryo stage that covers late steps of the embryogenesis with a fully formed embryo still developing before birth or egg hatching.	
HGNC:12801	XBP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12801		
UBERON:0009880	carpal skeleton	biolink:AnatomicalEntity	mondo			set of carpal bones|ossa carpi|fore mesopodium skeleton|carpal bones set|fore mesopodial skeleton|carpal bones|carpus|skeletal parts of fore mesopodium|skeleton of carpus|ossa carpi|fore mesopodium	http://purl.obolibrary.org/obo/UBERON_0009880	Subdivision of skeleton that consists of the endochondral elements distal to the anterior limb/fin zeugopodial skeletal elements which constitute the proximal region of the anterior autopod skeleton[PHENOSCAPE:ad].	
UBERON:0009881	anterior lateral plate mesoderm	biolink:AnatomicalEntity	mondo			ALPM	http://purl.obolibrary.org/obo/UBERON_0009881		
UBERON:0007228	vestibular nucleus	biolink:AnatomicalEntity	mondo			vestibular nucleus of acoustic nerve|vestibular nucleus of eighth cranial nerve|vestibular VIII nucleus	http://purl.obolibrary.org/obo/UBERON_0007228	A cranial nucleus for the vestibular nerve. [WP,unvetted].	
UBERON:0009883	medullary ray	biolink:AnatomicalEntity	mondo			Ferrein's pyramid|kidney medullary ray|renal medullary ray	http://purl.obolibrary.org/obo/UBERON_0009883	A renal, cortical lobule, consisting of the ascending or descending limbs of the loop of Henle or of the collecting tubules; medullary rays are regions where parallel arrays of straight tubules travel perpendicular to the capsule and extend from the cortex to the medulla.	
HGNC:3157	EDA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3157		
UBERON:0009885	interlobar artery	biolink:AnatomicalEntity	mondo			renal interlobar artery|interlobar artery of kidney|arteriae interlobares renis|set of interlobar arteries of kidney|arteriae interlobares renis|interlobar arteries of kidney|kidney interlobar artery	http://purl.obolibrary.org/obo/UBERON_0009885	An artery that supplies a renal lobe.	
MONDO:0011647	Alzheimer disease 7	biolink:Disease	mondo	ICD10:G30|UMLS:C1853555|DOID:0110039|MESH:C565251|OMIM:606187		Ad7|Alzheimer disease, familial 7|Alzheimer disease 7|Alzheimer disease type 7|AD7|Alzheimer's disease type 7|Alzheimer's disease 7|Alzheimer disease, familial, 7	http://purl.obolibrary.org/obo/MONDO_0011647	An Alzheimer's disease that is characterized by an associated with variation in the region 10p13.	http://identifiers.org/omim/606187|MESH:C565251|DOID:0110039|UMLS:C1853555
MONDO:0011646	laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy	biolink:Disease	mondo	OMIM:606183|MESH:C565252|UMLS:C1853556		laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy	http://purl.obolibrary.org/obo/MONDO_0011646		http://identifiers.org/omim/606183|MESH:C565252|UMLS:C1853556
MONDO:0011649	AVSD 1	biolink:Disease	mondo	OMIM:606215	predisposition	atrioventricular canal defect|atrioventricular septal defect, susceptibility to, 1|atrioventricular septal defect; AVSD|atrioventricular septal defect|AVC defect|endocardial cushion defect|AVSD	http://purl.obolibrary.org/obo/MONDO_0011649		http://identifiers.org/omim/606215
MONDO:0011648	radiation-induced meningioma	biolink:Disease	mondo	GARD:0008491|OMIM:606190|MESH:C536266|UMLS:C1853554	gard_rare	Mnri|radiation induced meningioma|meningioma, radiation-induced	http://purl.obolibrary.org/obo/MONDO_0011648		MESH:C536266|http://identifiers.org/omim/606190|UMLS:C1853554
MONDO:0011650	atrioventricular septal defect, susceptibility to, 2	biolink:Disease	mondo	OMIM:606217|MESH:C565249	predisposition	atrioventricular septal defect caused by mutation in CRELD1|atrioventricular septal defect, partial, with heterotaxy syndrome|susceptibility to atrioventricular septal defect 2|atrioventricular septal defect, susceptibility to, 2|atrioventricular septal defect, susceptibility to, type 2|atrioventricular septal defect, susceptibility to, 2; AVSD2|CRELD1 atrioventricular septal defect|AVSD2	http://purl.obolibrary.org/obo/MONDO_0011650	Any atrioventricular septal defect in which the cause of the disease is a mutation in the CRELD1 gene.	MESH:C565249|http://identifiers.org/omim/606217
MONDO:0011652	Phelan-McDermid syndrome	biolink:Disease	mondo	MESH:C536801|DOID:0080354|ICD9:758.39|ICD10:Q93.5|OMIM:606232|Orphanet:48652|UMLS:C1853490|GARD:0010130|SCTID:699310000	ordo_malformation_syndrome	monosomy type 22q13|22q13 deletion|monosomy 22q13|PHELAN-McDermid syndrome|Phelan McDermid syndrome|PHELAN-McDermid syndrome; PHMDS|telomeric 22Q13 monosomy syndrome|Phelan-McDermid syndrome|22q13.3 deletion syndrome|deletion 22q13.3 syndrome|chromosome 22Q13.3 deletion syndrome|PHMDS	http://purl.obolibrary.org/obo/MONDO_0011652	Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.	DOID:0080354|http://identifiers.org/omim/606232|MESH:C536801|UMLS:C1853490|ORPHA:48652|SNOMEDCT:699310000
GO:1904000	positive regulation of eating behavior	biolink:OntologyClass	mondo			up regulation of eating behavior|up regulation of eating behaviour|activation of eating behavior|up-regulation of eating behaviour|activation of eating behaviour|upregulation of eating behavior|upregulation of eating behaviour|up-regulation of eating behavior|positive regulation of eating behaviour	http://purl.obolibrary.org/obo/GO_1904000	Any process that activates or increases the frequency, rate or extent of eating behavior.	
MONDO:0011651	intellectual disability, short stature, facial anomalies, and joint dislocations	biolink:Disease	mondo	UMLS:C1853507|OMIM:606220|MESH:C565248		mental retardation, short stature, facial anomalies, and JOINT dislocations|intellectual disability, short stature, facial anomalies, and JOINT dislocations	http://purl.obolibrary.org/obo/MONDO_0011651		MESH:C565248|http://identifiers.org/omim/606220|UMLS:C1853507
UBERON:0007298	pronephric proximal convoluted tubule	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0007298	A proximal convoluted tubule that is part of a pronephros.	
UBERON:0007297	presumptive pronephric mesoderm	biolink:AnatomicalEntity	mondo			nephron primordium	http://purl.obolibrary.org/obo/UBERON_0007297	A presumptive structure that has the potential to develop into a pronephric mesoderm.	
MONDO:0011654	intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism	biolink:Disease	mondo	MESH:C565246|UMLS:C1853480|OMIM:606242		Kondoh syndrome|mental retardation, microcephaly, growth retardation, JOINT contractures, and facial dysmorphism|intellectual disability, microcephaly, growth retardation, JOINT contractures, and facial dysmorphism	http://purl.obolibrary.org/obo/MONDO_0011654		MESH:C565246|http://identifiers.org/omim/606242|UMLS:C1853480
MONDO:0011653	thyroid cancer, nonmedullary, 3	biolink:Disease	mondo	UMLS:C1853488|OMIM:606240		thyroid cancer, nonmedullary, 3; NMTC3|thyroid cancer, nonmedullary, 1, formerly|thyroid cancer, nonmedullary, 1|NMTC3|thyroid cancer, nonmedullary, 3	http://purl.obolibrary.org/obo/MONDO_0011653		http://identifiers.org/omim/606240|UMLS:C1853488
MONDO:0011656	PDB4	biolink:Disease	mondo	UMLS:C1853473|MESH:C565240|OMIM:606263		Paget disease of bone 4; PDB4|Paget disease of bone 4|PDB4	http://purl.obolibrary.org/obo/MONDO_0011656		MESH:C565240|http://identifiers.org/omim/606263|UMLS:C1853473
MONDO:0011655	alveolar soft part sarcoma (disease)	biolink:Disease	mondo	UMLS:C0206657|OMIM:606243|ONCOTREE:ASPS|HP:0012218|DOID:4239|NCIT:C7943|ICD10:C49.9|NCIT:C3750|MESH:D018234|ICDO:9581/3|Orphanet:163699|GARD:0005654|UMLS:C0279544|EFO:0007143|ICD9:171.9|SCTID:404056007|MedDRA:10001882	ordo_disease	adult alveolar soft Part sarcoma|alveolar soft part sarcoma|adult alveolar soft-Part sarcoma|alveolar soft PART sarcoma|ASPS|alveolar soft PART sarcoma; ASPS|childhood alveolar soft part sarcoma|alveolar soft tissue sarcoma|alveolar soft-part sarcoma|alveolar soft-tissue sarcoma|pediatric alveolar soft Part sarcoma|adult alveolar soft part sarcoma|alveolar soft Part sarcoma|ASPS	http://purl.obolibrary.org/obo/MONDO_0011655	An alveolar soft part sarcoma occurring in adults. The most common site of involvement is the extremity, particularly the deep soft tissues of the thigh.	UMLS:C0279544|DOID:4239|SNOMEDCT:404056007|http://identifiers.org/omim/606243|UMLS:C0206657|ORPHA:163699|MESH:D018234|NCIT:C7943|MEDDRA:10001882|NCIT:C3750
NCBITaxon:5552	Trichosporon	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_5552		
NCBITaxon:5553	Trichosporon beigelii	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_5553		
NCBITaxon:5550	Trichophyton	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_5550		
MONDO:0023628	levator syndrome	biolink:Disease	mondo	MESH:C535890|GARD:0006899|SCTID:62647006|NCIT:C113615	gard_rare	proctalgia fugax|levator ani spasm syndrome|levator ani syndrome|paroxysmal proctalgia|levator syndrome|psychogenic anal spasm|anorectal spasm|painful spasm of anus	http://purl.obolibrary.org/obo/MONDO_0023628	Levator syndrome is characterized by sporadic pain in the rectum caused by spasm of a muscle near the anus (the levator ani muscle). The muscle spasm causes pain that typically is not related to defecation. The pain usually lasts less than 20 minutes. Pain may be brief and intense or a vague ache high in the rectum. It may occur spontaneously or with sitting and can waken a person from sleep. The pain may feel as if it would be relieved by the passage of gas or a bowel movement. In severe cases, the pain can persist for many hours and can recur frequently. A person may have undergone various unsuccessful rectal operations to relieve these symptoms.	MESH:C535890|NCIT:C113615|SNOMEDCT:62647006
HGNC:3169	S1PR2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3169		
UBERON:0019269	gray matter of diencephalon	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0019269		
UBERON:0019267	gray matter of midbrain	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0019267		
UBERON:0019264	gray matter of forebrain	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0019264		
UBERON:0019262	white matter of myelencephalon	biolink:AnatomicalEntity	mondo			myelencephalic white matter	http://purl.obolibrary.org/obo/UBERON_0019262	A white matter that is part of the myelencephalon.	
MONDO:0008008	MOMO syndrome	biolink:Disease	mondo	UMLS:C1834759|ICD10:Q87.3|Orphanet:2563|OMIM:157980|SCTID:724137002|MESH:C535812|GARD:0000178	gard_rare|ordo_malformation_syndrome	macrosomia-obesity-macrocephaly-ocular abnormalities syndrome|momo syndrome|macrosomia, obesity, macrocephaly, ocular abnormalities|macrocephaly-obesity-mental disability-ocular abnormalities syndrome|macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus)|macrosomia, obesity, macrocephaly, and ocular abnormalities	http://purl.obolibrary.org/obo/MONDO_0008008	MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.	http://identifiers.org/omim/157980|UMLS:C1834759|ORPHA:2563|SNOMEDCT:724137002|MESH:C535812
UBERON:0019263	gray matter of hindbrain	biolink:AnatomicalEntity	mondo			gray matter of the hindbrain	http://purl.obolibrary.org/obo/UBERON_0019263		
MONDO:0008009	monilethrix	biolink:Disease	mondo	DOID:0050472|UMLS:C0546966|MESH:D056734|NCIT:C84894|ICD10:Q84.1|GARD:0000093|Orphanet:573|SCTID:69488000|OMIM:158000	ordo_disease|gard_rare	monilethrix; MNLIX|nodose hair|moniliform hair syndrome|monilethrix|MNLIX	http://purl.obolibrary.org/obo/MONDO_0008009	Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis.	http://identifiers.org/omim/158000|SNOMEDCT:69488000|UMLS:C0546966|NCIT:C84894|MESH:D056734|ORPHA:573|DOID:0050472
MONDO:0008006	Mobius syndrome	biolink:Disease	mondo	ICD9:759.89|GARD:0008549|Orphanet:570|MedDRA:10030069|UMLS:C0221060|OMIM:157900|NCIT:C84893|MedDRA:10027789|ICD10:Q87.0|SCTID:89444000|EFO:1001046|MESH:D020331|DOID:13501|UMLS:C0853240	ordo_disease	congenital facial diplegia|Moebius sequence|congenital facial diplegia syndrome|absence or underdevelopment of the 6th and 7th cranial nerves|oromandibular-limb hypogenesis spectrum|Moebius syndrome|Möbius syndrome|Moebius syndrome; MBS|Mobius syndrome|Moebius congenital oculofacial paralysis|MBS|congenital oculofacial paralysis	http://purl.obolibrary.org/obo/MONDO_0008006	Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.	MEDDRA:10030069|MESH:D020331|NCIT:C84893|http://identifiers.org/omim/157900|ORPHA:570|UMLS:C0221060|SNOMEDCT:89444000|UMLS:C0853240|DOID:13501
MONDO:0011636	Diamond-Blackfan anemia 2	biolink:Disease	mondo	MESH:C536130|OMIM:606129|GARD:0008283|UMLS:C1853666	gard_rare	Diamond-Blackfan Anemia, 2|Diamond-Blackfan anemia 2; DBA2|DBA2|Diamond-Blackfan anemia 2|anemia Diamond-Blackfan 2	http://purl.obolibrary.org/obo/MONDO_0011636		MESH:C536130|http://identifiers.org/omim/606129|UMLS:C1853666
UBERON:0007282	presumptive segmental plate	biolink:AnatomicalEntity	mondo			presumptive segmental plates	http://purl.obolibrary.org/obo/UBERON_0007282	A presumptive structure that has the potential to develop into a presomitic mesoderm.	
MONDO:0011635	MNG3	biolink:Disease	mondo	UMLS:C1853686|OMIM:606082|MESH:C565260		goiter, multinodular 3; MNG3|goiter, multinodular 3|MNG3	http://purl.obolibrary.org/obo/MONDO_0011635		http://identifiers.org/omim/606082|MESH:C565260|UMLS:C1853686
MONDO:0008007	tooth ankylosis	biolink:Disease	mondo	UMLS:C0155930|ICD10:K03.5|MESH:D020254|MedDRA:10044019|SCTID:14901003|EFO:1001215|COHD:433229|DOID:12661|GARD:0000701|OMIM:157950|Orphanet:1077|ICD9:521.6	ordo_malformation_syndrome	molar 1 reinclusion|secondary retention of permanent molars|permanent molars, secondary retention OF|ankylosis of teeth|ankylosis of tooth|dental ankylosis|abnormal fusion of dental cementum with alveolar bone|ankylosis (disease) of calcareous tooth|molar I reinclusion|calcareous tooth ankylosis (disease)	http://purl.obolibrary.org/obo/MONDO_0008007	Dental ankylosis is a rare disorder characterized by the fusion of the tooth to the bone, preventing both eruption and orthodontic movement.	DOID:12661|UMLS:C0155930|MESH:D020254|http://identifiers.org/omim/157950|ORPHA:1077|SNOMEDCT:14901003|MEDDRA:10044019
UBERON:0007281	presumptive midbrain hindbrain boundary	biolink:AnatomicalEntity	mondo			presumptive MHB|presumptive midbrain-hindbrain boundary	http://purl.obolibrary.org/obo/UBERON_0007281	Embryonic structure that gives rise to the midbrain hindbrain boundary.	
MONDO:0008004	familial mitral valve prolapse	biolink:Disease	mondo	SCTID:233858000|ICD10:I34.1|GARD:0003687|Orphanet:741	ordo_morphological_anomaly	hereditary mitral valve prolapse (disease)|mitral valve prolapse, familial|MVP|mitral valve prolapse, familial, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008004	An instance of mitral valve prolapse (disease) that is caused by an inherited modification of the individual's genome.	SNOMEDCT:233858000|ORPHA:741|UMLS:C0340364
MONDO:0011638	neuroferritinopathy	biolink:Disease	mondo	MESH:C548080|ICD9:333.0|OMIM:606159|SCTID:699299001|Orphanet:157846|DOID:0110737|GARD:0010686|ICD10:G23.0|UMLS:C1853578	ordo_disease	neurodegeneration with brain iron accumulation 3; NBIA3|hereditary ferritinopathy|neurodegeneration with brain iron accumulation type 3|basal ganglia disease adult-onset|neuroferritinopathy|Neuroferritinopathy; basal ganglia disease, adult-onset|neurodegeneration with brain iron accumulation 3|adult basal ganglia disease|basal ganglia disease, adult-onset|NBIA3|ferritin-related neurodegeneration	http://purl.obolibrary.org/obo/MONDO_0011638	Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA) characterized by progressive chorea or dystonia and subtle cognitive deficits.	SNOMEDCT:699299001|MESH:C548080|http://identifiers.org/omim/606159|DOID:0110737|UMLS:C1853578|ORPHA:157846
UBERON:0007280	presumptive endocardium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0007280	A presumptive structure that has the potential to develop into a endocardium.	
MONDO:0008005	cardiospondylocarpofacial syndrome	biolink:Disease	mondo	UMLS:CN204053|GARD:0002362|Orphanet:3238|MESH:C563572|OMIM:157800|SCTID:720612000	ordo_malformation_syndrome	Forney Robinson Pascoe syndrome|mitral regurgitation-deafness-skeletal anomalies syndrome|congenital heart disease, deafness, and skeletal malformations|CSCF|cardiospondylocarpofacial syndrome; CSCF|Forney-Robinson-Pascoe syndrome|Forney syndrome|cardiospondylocarpofacial syndrome|mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones	http://purl.obolibrary.org/obo/MONDO_0008005	Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.	UMLS:CN204053|ORPHA:3238|http://identifiers.org/omim/157800|SNOMEDCT:720612000|MESH:C563572
MONDO:0011637	Sener syndrome	biolink:Disease	mondo	OMIM:606156|UMLS:C1853616|GARD:0008451|MESH:C537579	gard_rare	polycystic brain (cerebrum polycystica vera) associated with ectodermal dysplasia|Sener syndrome|frontonasal dysplasia and dilated Virchow-Robin spaces	http://purl.obolibrary.org/obo/MONDO_0011637		MESH:C537579|http://identifiers.org/omim/606156|UMLS:C1853616
MONDO:0008002	mirror movements 1	biolink:Disease	mondo	OMIM:157600		DCC familial congenital mirror movements|mirror movements 1|mirror movements type 1|MRMV1|bimanual synergia|mirror movements, congenital|mirror movements 1 and/Or agenesis of the corpus callosum|mirror movements 1; MRMV1|familial congenital mirror movements caused by mutation in DCC	http://purl.obolibrary.org/obo/MONDO_0008002	Any familial congenital mirror movements in which the cause of the disease is a mutation in the DCC gene.	http://identifiers.org/omim/157600
MONDO:0008003	autosomal dominant progressive external ophthalmoplegia	biolink:Disease	mondo	UMLS:CN202062|Orphanet:254892|ICD10:H49.4|MESH:C563575	ordo_disease	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|adPEO|PEOA1|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 1|progressive external ophthalmoplegia, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0008003	Autosomal dominant form of progressive external ophthalmoplegia.	UMLS:CN202062|ORPHA:254892|MESH:C563575
MONDO:0011639	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	biolink:Disease	mondo	OMIM:606164|UMLS:C4225411|UMLS:C1853576		Diamond-Blackfan anemia 15 with mandibulofacial dysostosis; DBA15|RPS28 Diamond-Blackfan anemia|DBA15|Diamond-Blackfan anemia caused by mutation in RPS28|Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	http://purl.obolibrary.org/obo/MONDO_0011639	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS28 gene.	http://identifiers.org/omim/606164|UMLS:C4225411|UMLS:C1853576
MONDO:0008000	migraine with or without aura, susceptibility to, 1	biolink:Disease	mondo	ICD9:346.80|OMIM:157300|SCTID:37796009|COHD:318736|ICD9:346.90	predisposition	Mgau|migraine with or without aura, susceptibility to, 1|migraine with or without aura, susceptibility to, type 1|Mgr1|migraine	http://purl.obolibrary.org/obo/MONDO_0008000		http://identifiers.org/omim/157300|SNOMEDCT:37796009
MONDO:0008001	milia, multiple eruptive	biolink:Disease	mondo	MESH:C562823|UMLS:C0343079|OMIM:157400|SCTID:238749001		milia, multiple eruptive; MEM|MEM|milia, multiple eruptive	http://purl.obolibrary.org/obo/MONDO_0008001		http://identifiers.org/omim/157400|MESH:C562823|UMLS:C0343079|SNOMEDCT:238749001
HGNC:3176	EDN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3176		
UBERON:0007289	presumptive rhombomere 1	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0007289	A presumptive structure that has the potential to develop into a rhombomere 1.	
UBERON:0007288	presumptive forebrain midbrain boundary	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0007288	A presumptive structure that has the potential to develop into a forebrain-midbrain boundary.	
MONDO:0011641	baculum, congenital absence of	biolink:Disease	mondo	OMIM:606174		Os penis, congenital absence of|baculum, congenital absence of	http://purl.obolibrary.org/obo/MONDO_0011641		http://identifiers.org/omim/606174
MONDO:0011640	genitopatellar syndrome	biolink:Disease	mondo	GARD:0010994|ICD10:Q87.8|MESH:C565255|ICD9:759.89|SCTID:702367005|Orphanet:85201|UMLS:C1853566|OMIM:606170	gard_rare|ordo_malformation_syndrome	genitopatellar syndrome|absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and intellectual disability|absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and mental retardation|absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome|GENITOPATELLAR syndrome; GTPTS|GTPTS	http://purl.obolibrary.org/obo/MONDO_0011640	Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.	ORPHA:85201|SNOMEDCT:702367005|http://identifiers.org/omim/606170|MESH:C565255|UMLS:C1853566
MONDO:0011643	obsolete permanent neonatal diabetes mellitus	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0011643		
UBERON:0007285	presumptive paraxial mesoderm	biolink:AnatomicalEntity	mondo			future paraxial mesenchyme|future paraxial mesoderm	http://purl.obolibrary.org/obo/UBERON_0007285	The part of the blastula that has the potential to develop into a paraxial mesoderm.	
MONDO:0011642	carnitine acetyltransferase deficiency	biolink:Disease	mondo	UMLS:CN035113|SCTID:124257002|GTR:AN0098795|GARD:0008602|GTR:AN0098794|ICD9:277.6|UMLS:C1443228|OMIM:606175|MESH:C563249	gard_rare	Acetyl-carnitine deficiency|CrAT|acetyl-carnitine deficiency|carnitine acetyltransferase deficiency	http://purl.obolibrary.org/obo/MONDO_0011642	A disease arising from a defect of carnitine acetyltransferase causing disruption of whole-body glucose homeostasis and muscle-specific loss of function results in reduced metabolic control, which resembles the insulin resistant state.	http://identifiers.org/omim/606175|MESH:C563249|SNOMEDCT:124257002|UMLS:C1443228|UMLS:CN035113
MONDO:0011645	aneurysmal bone cysts	biolink:Disease	mondo	GARD:0008646|OMIM:606179	gard_rare	aneurysmal bone cysts	http://purl.obolibrary.org/obo/MONDO_0011645		http://identifiers.org/omim/606179
UBERON:0007284	presumptive neural plate	biolink:AnatomicalEntity	mondo			prospective neuroectoderm|prospective vegetal ectoderm	http://purl.obolibrary.org/obo/UBERON_0007284	A presumptive structure that has the potential to develop into a neural plate.	
MONDO:0011644	pars planitis	biolink:Disease	mondo	OMIM:606177|MESH:D015868|EFO:1001088|DOID:12731|GARD:0007339|UMLS:C0030593|MedDRA:10034052|COHD:434026|SCTID:314428001|ICD9:363.21|ICD10:H30.2|NCIT:C34903		pars plana of ciliary bodyitis|pars planitis|pars plana of ciliary body inflammation|familial pars planitis (subtype)|peripheral retinal inflammation|inflammation of pars plana of ciliary body|posterior cyclitis	http://purl.obolibrary.org/obo/MONDO_0011644	An inflammatory disorder of the cilliary body in the uvea that affects healthy, younger individuals who are often asymptomatic. It has a long clinical course with relapses and remissions. Symptoms include mildly decreased vision and floaters. It may be associated with autoimmune disorders.	MESH:D015868|UMLS:C0030593|http://identifiers.org/omim/606177|NCIT:C34903|SNOMEDCT:314428001|DOID:12731
UBERON:0019261	white matter of forebrain	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0019261	A white matter that is part of the forebrain.	
MONDO:0023616	obsolete familial leiomyomatosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0023616		
MONDO:0023619	lentigo maligna melanoma	biolink:Disease	mondo	SCTID:302837001|GARD:0009962|NCIT:C9151|ICD9:172.8|UMLS:C2739810|ONCOTREE:SKLMM|ICDO:8742/3	gard_rare	malignant lentigo melanoma|LMM|Hutchison melanotic freckle|lentigo maligna melanoma|SKLMM	http://purl.obolibrary.org/obo/MONDO_0023619	Lentigo maligna melanoma (LMM) is a type of skin cancer that usually develops in older, fair-skinnedadults. The average age of diagnosis is65. LMM is thought to be caused by a history of sun exposure to the affected area. Treatment includes surgery to remove as much of the LMM as possible.	SNOMEDCT:302837001|UMLS:C2739810|NCIT:C9151
HGNC:3179	EDNRA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3179		
HGNC:3178	EDN3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3178		
UBERON:0019258	white matter of hindbrain	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0019258	A white matter that is part of the hindbrain.	
MONDO:0011625	autosomal dominant nonsyndromic deafness 18	biolink:Disease	mondo	DOID:0110549|MESH:C565267|ICD10:H90.3|OMIM:606012|UMLS:C1853760		autosomal dominant deafness 18|deafness, autosomal dominant 18; DFNA18|autosomal dominant nonsyndromic deafness type 18|deafness, autosomal dominant 18|DFNA18	http://purl.obolibrary.org/obo/MONDO_0011625	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 3q22.	http://identifiers.org/omim/606012|MESH:C565267|DOID:0110549|UMLS:C1853760
UBERON:0007271	appendage musculature	biolink:AnatomicalEntity	mondo			fin musculature	http://purl.obolibrary.org/obo/UBERON_0007271	Any collection of muscles that is part of an appendage.	
MONDO:0011624	transaldolase deficiency	biolink:Disease	mondo	MESH:C563207|Orphanet:101028|GARD:0010445|UMLS:C1291329|OMIM:606003|ICD10:E74.8|SCTID:124252008|ICD9:277.6	ordo_disease|gard_rare	transaldolase deficiency|Eyaid syndrome|Taldo deficiency|TALDO deficiency	http://purl.obolibrary.org/obo/MONDO_0011624	Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.	http://identifiers.org/omim/606003|SNOMEDCT:124252008|MESH:C563207|ORPHA:101028|UMLS:C1291329
UBERON:0007270	pelvic appendage musculature	biolink:AnatomicalEntity	mondo			pelvic fin musculature	http://purl.obolibrary.org/obo/UBERON_0007270	Any collection of muscles that is part of a pelvic appendage.	
MONDO:0011627	AUTS5	biolink:Disease	mondo	UMLS:C1853755|OMIM:606053	predisposition	autism, susceptibility to, 5; AUTS5|autism-related speech delay|autism, susceptibility to, 5|phrase speech delay, autism-related|AUTS5	http://purl.obolibrary.org/obo/MONDO_0011627		UMLS:C1853755|http://identifiers.org/omim/606053
MONDO:0011626	acromegaloid features, overgrowth, cleft palate, and hernia	biolink:Disease	mondo	GARD:0010194|UMLS:C1853757|MESH:C535656|OMIM:606049	gard_rare	Aoch|acromegaloid features, overgrowth, cleft palate, and hernia|acromegaloid features, overgrowth, cleft palate and hernia	http://purl.obolibrary.org/obo/MONDO_0011626		UMLS:C1853757|http://identifiers.org/omim/606049|MESH:C535656
GO:1904018	positive regulation of vasculature development	biolink:OntologyClass	mondo			upregulation of vasculature development|up-regulation of vascular system development|up regulation of vascular system development|up-regulation of vasculature development|positive regulation of vascular system development|up regulation of vasculature development|activation of vasculature development|upregulation of vascular system development|activation of vascular system development	http://purl.obolibrary.org/obo/GO_1904018	Any process that activates or increases the frequency, rate or extent of vasculature development.	
MONDO:0011629	MOGS-CDG	biolink:Disease	mondo	OMIM:606056|UMLS:C1853736|Orphanet:79330|GARD:0010767|DOID:0070254|SCTID:725028009|MESH:C565264|ICD10:E77.8	ordo_disease	CDG IIb|congenital disorder of glycosylation type IIb|CDG syndrome type IIb|congenital disorder of glycosylation, type IIb; CDG2B|congenital disorder of glycosylation type 2b|GCS1-CDG|congenital disorder of glycosylation, type IIb|glucosidase 1 deficiency|CDG2B|carbohydrate deficient glycoprotein syndrome type IIb|CDG-IIb|MOGS-CDG (CDG-IIb)|CDG 2B	http://purl.obolibrary.org/obo/MONDO_0011629	(2p13.1).	UMLS:C1853736|DOID:0070254|http://identifiers.org/omim/606056|MESH:C565264|ORPHA:79330|SNOMEDCT:725028009
MONDO:0011628	propionic acidemia	biolink:Disease	mondo	OMIM:606054|Orphanet:35|MESH:D056693|NCIT:C85030|ICD10:E71.1|SCTID:69080001|GARD:0000467|UMLS:C0268579|ICD10:E71.121|DOID:14701	ordo_disease|gard_rare	propionic aciduria|prop|propionyl-CoA carboxylase deficiency|ketotic hyperglycinemia|propionic acidemia|Glycinemia, ketotic|propionyl-Coa carboxylase deficiency|GLYCINEMIA, ketotic|hyperglycinemia with ketoacidosis and leukopenia|Propionicacidemia|ketotic II glycinemia|ketotic glycinemia|PCC deficiency	http://purl.obolibrary.org/obo/MONDO_0011628	Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.	ORPHA:35|UMLS:C0268579|SNOMEDCT:69080001|MESH:D056693|http://identifiers.org/omim/606054|DOID:14701|NCIT:C85030|UMLS:C0311298
UBERON:0007278	presumptive sinus venosus	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0007278	Portion of tissue that is part of the heart tube and will become the sinus venosus.	
MONDO:0011630	retinitis pigmentosa 28	biolink:Disease	mondo	UMLS:C1419614|ICD10:H35.5|GARD:0010394|DOID:0110365|OMIM:606068	gard_rare	retinitis pigmentosa caused by mutation in FAM161A|RP 28|retinitis pigmentosa 28|RP28|FAM161A retinitis pigmentosa|retinitis pigmentosa type 28|retinitis pigmentosa 28; RP28	http://purl.obolibrary.org/obo/MONDO_0011630	Any retinitis pigmentosa in which the cause of the disease is a mutation in the FAM161A gene.	UMLS:C1419614|http://identifiers.org/omim/606068|DOID:0110365
UBERON:0007277	presumptive hindbrain	biolink:AnatomicalEntity	mondo			presumptive rhombencephalon|rhombencephalon|embryonic rhombencephalon|future hindbrain	http://purl.obolibrary.org/obo/UBERON_0007277	The rhombencephalon (or hindbrain) is a developmental categorization of portions of the central nervous system in vertebrates. The rhombencephalon can be subdivided in a variable number of transversal swellings called rhombomeres. In the human embryo eight rhombomeres can be distinguished, from caudal to rostral: Rh7-Rh1 and the isthmus (the most rostral rhombomere). A rare disease of the rhombencephalon, 'rhombencephalosynapsis' is characterized by a missing vermis resulting in a fused cerebellum. Patients generally present with cerebellar ataxia. The caudal rhombencephalon has been generally considered as the initiation site for neural tube closure.	
MONDO:0011632	amyotrophic lateral sclerosis type 21	biolink:Disease	mondo	OMIM:606070|DOID:0060212|NCIT:C168755		amyotrophic lateral sclerosis type 21|vocal cord and pharyngeal dysfunction with distal myopathy, formerly|amyotrophic lateral sclerosis 21|myopathy, distal, 2, formerly|vocal cord and pharyngeal dysfunction with distal myopathy|myopathy, distal, 2|ALS21|MATR3 amyotrophic lateral sclerosis|amyotrophic lateral sclerosis 21; ALS21|amyotrophic lateral sclerosis caused by mutation in MATR3	http://purl.obolibrary.org/obo/MONDO_0011632	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the MATR3 gene.	http://identifiers.org/omim/606070|DOID:0060212|NCIT:C168755
MONDO:0011631	hemochromatosis type 4	biolink:Disease	mondo	ICD10:E83.1|MESH:C537249|OMIM:606069|DOID:0111028|SCTID:719975002|GARD:0010094|Orphanet:139491|UMLS:C1853733	ordo_disease|gard_rare	hereditary hemochromatosis caused by mutation in SLC40A1|hemochromatosis due to defect in ferroportin|hemochromatosis, autosomal dominant|hemochromatosis, type 4; HFE4|SLC40A1 hereditary hemochromatosis|HFE4|hemochromatosis due to defect in ferroportin|hemochromatosis, type 4|autosomal dominant hereditary hemochromatosis|ferroportin disease	http://purl.obolibrary.org/obo/MONDO_0011631	Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin.	MESH:C537249|DOID:0111028|http://identifiers.org/omim/606069|ORPHA:139491|UMLS:C1853733|SNOMEDCT:719975002
HGNC:3182	PHC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3182		
MONDO:0011634	rippling muscle disease	biolink:Disease	mondo	ICD9:359.29|ICD10:G71.8|SCTID:709281006|MedDRA:10069417			http://purl.obolibrary.org/obo/MONDO_0011634	A benign myopathy with symptoms and signs of muscular hyperexcitability. The typical finding is electrically silent muscle contractions provoked by mechanical stimuli and stretch	MESH:C535685|MEDDRA:10069417|UMLS:C1853698|SNOMEDCT:709281006
UBERON:0007273	pelvic appendage skeleton	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0007273	The collection of all skeletal elements in a pelvic appendage region.	
MONDO:0011633	Charcot-Marie-Tooth disease axonal type 2C	biolink:Disease	mondo	ICD10:G60.0|SCTID:717010007|DOID:0110182|Orphanet:99937|OMIM:606071|GARD:0001250	gard_rare|ordo_disease	CMT 2C|CMT2C|Charcot Marie Tooth disease type 2C|autosomal cominant axonal Charcot-Marie-Tooth disease type 2C|hereditary motor and sensory neuropathy, type 2C|HMSN 2 C|hereditary motor and sensory neuropathy type IIc|hereditary motor and sensory neuropathy, type IIC; HMSN2C|TRPV4 Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth neuropathy type 2C|Charcot-Marie-Tooth disease type 2 caused by mutation in TRPV4|Charcot-Marie-Tooth disease type 2C|autosomal dominant Charcot-Marie-Tooth disease type 2C|Charcot-Marie-Tooth neuropathy, type 2C|HMSN2C|hereditary motor and sensory neuropathy 2 C|HMSN 2C|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2C|Charcot-Marie-Tooth disease, axonal, type 2C|hereditary motor and sensory neuropathy, type IIC	http://purl.obolibrary.org/obo/MONDO_0011633	Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.	SNOMEDCT:717010007|ORPHA:99937|http://identifiers.org/omim/606071|DOID:0110182
UBERON:0007272	pectoral appendage skeleton	biolink:AnatomicalEntity	mondo			cheiropterygium	http://purl.obolibrary.org/obo/UBERON_0007272	Skeletal subdivision consisting of the anterior appendicular limb skeleton, excluding the pectoral girdle.	
HGNC:3180	EDNRB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3180		
MONDO:0023603	hereditary connective tissue disorder	biolink:Disease	mondo	NCIT:C97075|UMLS:C0410787|SCTID:363045008		connective tissue hereditary disorder|Hereditary Connective Tissue Disorder|inherited disorder of connective tissue|Connective tissue hereditary disorder|hereditary connective tissue disorder|Inherited disorder of connective tissue	http://purl.obolibrary.org/obo/MONDO_0023603	An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome.	SNOMEDCT:363045008|UMLS:C0410787|NCIT:C97075
MONDO:0023605	Laugier-Hunziker syndrome	biolink:Disease	mondo	ICD9:528.9|UMLS:C0406425|GARD:0009669|SCTID:238706002	gard_rare	Laugier and Hunziker pigmentation|LHS|Laugier-Hunziker syndrome	http://purl.obolibrary.org/obo/MONDO_0023605		UMLS:C0406425|SNOMEDCT:238706002
MONDO:0023607	Laurence-Prosser-Rocker syndrome	biolink:Disease	mondo	MESH:C537882|UMLS:C2931651|GARD:0003201	gard_rare	Hirschsprung's disease associated with congenital heart malformation, broad big toes, and ulnar polydactyly|Hirschsprung's disease associated with ulnar polydactyly, polysyndactyly of big toes and ventricular septal defect	http://purl.obolibrary.org/obo/MONDO_0023607		UMLS:C2931651|MESH:C537882
MONDO:0023609	le Marec-Bracq-Picaud syndrome	biolink:Disease	mondo	UMLS:C2931385|GARD:0000171|MESH:C536997	gard_rare	complex malformation syndrome with brachymesomelia	http://purl.obolibrary.org/obo/MONDO_0023609		UMLS:C2931385|MESH:C536997
MONDO:0023601	non-classic congenital adrenal hyperplasia	biolink:Disease	mondo	NCIT:C131442|MESH:C537877|UMLS:C0342467		attenuated congenital adrenal hyperplasia|late-onset congenital adrenal hyperplasia|non classic congenital adrenal hyperplasia|LOCAH|NCCAH|non-classic congenital adrenal hyperplasia	http://purl.obolibrary.org/obo/MONDO_0023601	A milder form of congenital adrenal hyperplasia characterized by decreased activity of an enzyme in the steroidogenic pathway, typically presenting later in life, that does not require life-long cortisol replacement.	MESH:C537877|UMLS:C0342467|NCIT:C131442
UBERON:0019241	pedal digit 1 or 5	biolink:AnatomicalEntity	mondo			outermost pedal digit|outer pedal digit|lateral toe|lateral pedal digit	http://purl.obolibrary.org/obo/UBERON_0019241		
MONDO:0011614	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	biolink:Disease	mondo	ICD10:E71.3|Orphanet:35701|UMLS:C2751532|OMIM:605911|GARD:0002712|MESH:C567784|SCTID:725286002	ordo_disease|gard_rare	3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency; HMGCS2D|Hmgcs2 deficiency|mitochondrial HMG-Coa synthase deficiency|3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency|HMG CoA synthetase deficiency|HMG-CoA synthase deficiency|HMGCS2D	http://purl.obolibrary.org/obo/MONDO_0011614	3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.	http://identifiers.org/omim/605911|ORPHA:35701|MESH:C567784|SNOMEDCT:725286002|UMLS:C2751532
MONDO:0011613	autosomal recessive early-onset Parkinson disease 6	biolink:Disease	mondo	DOID:0060369|OMIM:605909|MESH:C565276		Parkinson disease 6, autosomal recessive early-onset|early-onset Parkinson disease 6|PINK1 Parkinson disease|Parkinson disease, autosomal recessive early-onset, digenic, Pink1/Dj1|Parkinson disease 6, autosomal recessive early-onset; PARK6|Parkinson disease 6, late-onset, susceptibility to|Parkinson disease caused by mutation in PINK1|autosomal recessive early-onset Parkinson disease type 6|autosomal recessive early-onset Parkinson's disease 6|Parkinson disease 6, early-onset|PARK6	http://purl.obolibrary.org/obo/MONDO_0011613	Any Parkinson disease in which the cause of the disease is a mutation in the PINK1 gene.	MESH:C565276|DOID:0060369|http://identifiers.org/omim/605909
MONDO:0011616	holoprosencephaly 6	biolink:Disease	mondo	DOID:0110874|MESH:C565274|UMLS:C1853830|OMIM:605934		holoprosencephaly type 6|holoprosencephaly 6|holoprosencephaly 6; HPE6|HPE6	http://purl.obolibrary.org/obo/MONDO_0011616	A holoprosencephaly that has material basis in variation in the chromosome region 2q37.1-q37.3.	DOID:0110874|http://identifiers.org/omim/605934|UMLS:C1853830|MESH:C565274
MONDO:0011615	East Texas bleeding disorder	biolink:Disease	mondo	Orphanet:391320|ICD10:D68.2|OMIM:605913|UMLS:C1853831|MESH:C565275	ordo_disease	Bdet|bleeding disorder, EAST Texas type	http://purl.obolibrary.org/obo/MONDO_0011615		http://identifiers.org/omim/605913|UMLS:C1853831|ORPHA:391320|MESH:C565275
MONDO:0011618	liver fibrocystic disease and polydactyly	biolink:Disease	mondo	MESH:C565272|OMIM:605944|UMLS:C1853827		liver fibrocystic disease and polydactyly	http://purl.obolibrary.org/obo/MONDO_0011618		http://identifiers.org/omim/605944|UMLS:C1853827|MESH:C565272
MONDO:0011617	arthropathy, erosive	biolink:Disease	mondo	MESH:C565273|OMIM:605935|UMLS:C1853829		arthropathy, erosive	http://purl.obolibrary.org/obo/MONDO_0011617		http://identifiers.org/omim/605935|UMLS:C1853829|MESH:C565273
MONDO:0011619	crumpled helices and small mouth	biolink:Disease	mondo	OMIM:605945|MESH:C536217|GARD:0010078|UMLS:C1853826	gard_rare	crumpled helices and small mouth|sparse hair, prominent nose, small mouth, micrognathia, cleft palate, crumpled upper helices, digit anomaly, and mild developmental delay	http://purl.obolibrary.org/obo/MONDO_0011619		http://identifiers.org/omim/605945|UMLS:C1853826|MESH:C536217
UBERON:0007267	trachea pre-cartilage rings	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0007267	A pre-cartilage condensation that is part of a trachea.	
MONDO:0011621	acropectoral syndrome	biolink:Disease	mondo	UMLS:C1853812|OMIM:605967|GARD:0008485|ICD10:Q74.0|MESH:C535664|Orphanet:85203|SCTID:720412009	ordo_malformation_syndrome|gard_rare	syndactyly, preaxial polydactyly and sternal deformity|acropectoral syndrome; ACRPS|syndactyly-preaxial polydactyly-sternal deformity syndrome|syndactyly, preaxial polydactyly, and sternal deformity|acropectoral syndrome|acro-pectoral syndrome|ACRP syndrome|ACRPS|Dundar Acropectoral syndrome	http://purl.obolibrary.org/obo/MONDO_0011621	Acro-pectoral syndrome is characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. It has been described in 22 patients from a six-generation Turkish family. It is transmitted as an autosomal dominant trait and the causative gene is located at 7q36.	SNOMEDCT:720412009|ORPHA:85203|MESH:C535664|http://identifiers.org/omim/605967|UMLS:C1853812
MONDO:0011620	metaphyseal dysplasia, Braun-Tinschert type	biolink:Disease	mondo	OMIM:605946|Orphanet:85188|SCTID:717221005|ICD10:Q78.5|UMLS:C1853825|MESH:C565271	ordo_malformation_syndrome	metaphyseal dysplasia, Braun-Tinschert type	http://purl.obolibrary.org/obo/MONDO_0011620	Metaphyseal dysplasia, Braun-Tinschert type is characterised by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions.	SNOMEDCT:717221005|ORPHA:85188|MESH:C565271|http://identifiers.org/omim/605946|UMLS:C1853825
MONDO:0011623	spinocerebellar ataxia, autosomal recessive 1	biolink:Disease	mondo	OMIM:606002|UMLS:C1853761		AOA2|spinocerebellar ataxia, autosomal recessive type 1|SCAR1|spinocerebellar ataxia, autosomal recessive 1|ataxia-oculomotor apraxia 2|ataxia-ocular apraxia 2|spinocerebellar ataxia, autosomal recessive 1; SCAR1	http://purl.obolibrary.org/obo/MONDO_0011623		http://identifiers.org/omim/606002|UMLS:C1853761
HGNC:3192	EEF1A2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3192		
MONDO:0011622	nephrolithiasis, uric acid, susceptibility to	biolink:Disease	mondo	OMIM:605990	predisposition	nephrolithiasis, uric acid, susceptibility to|UAN|susceptibility to uric acid nephrolithiasis|urolithiasis, uric acid, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0011622		http://identifiers.org/omim/605990
UBERON:0007269	pectoral appendage musculature	biolink:AnatomicalEntity	mondo			pectoral fin musculature|pectoral fin muscle	http://purl.obolibrary.org/obo/UBERON_0007269	Any collection of muscles that is part of a pectoral appendage.	
GO:0030813	positive regulation of nucleotide catabolic process	biolink:OntologyClass	mondo			upregulation of nucleotide catabolic process|positive regulation of nucleotide breakdown|positive regulation of nucleotide catabolism|up regulation of nucleotide catabolic process|stimulation of nucleotide catabolic process|up-regulation of nucleotide catabolic process|activation of nucleotide catabolic process|positive regulation of nucleotide degradation	http://purl.obolibrary.org/obo/GO_0030813	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of nucleotides.	
GO:0030811	regulation of nucleotide catabolic process	biolink:OntologyClass	mondo			regulation of nucleotide catabolism|regulation of nucleotide degradation|regulation of nucleotide breakdown	http://purl.obolibrary.org/obo/GO_0030811	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of nucleotides.	
GO:0030812	negative regulation of nucleotide catabolic process	biolink:OntologyClass	mondo			negative regulation of nucleotide breakdown|down regulation of nucleotide catabolic process|inhibition of nucleotide catabolic process|down-regulation of nucleotide catabolic process|negative regulation of nucleotide degradation|downregulation of nucleotide catabolic process|negative regulation of nucleotide catabolism	http://purl.obolibrary.org/obo/GO_0030812	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of nucleotides.	
GO:0030810	positive regulation of nucleotide biosynthetic process	biolink:OntologyClass	mondo			upregulation of nucleotide biosynthetic process|positive regulation of nucleotide synthesis|positive regulation of nucleotide formation|up-regulation of nucleotide biosynthetic process|up regulation of nucleotide biosynthetic process|positive regulation of nucleotide biosynthesis|positive regulation of nucleotide anabolism|activation of nucleotide biosynthetic process|stimulation of nucleotide biosynthetic process	http://purl.obolibrary.org/obo/GO_0030810	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nucleotides.	
NCBITaxon:5587	Rhinocladiella	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_5587		
UBERON:0009953	post-embryonic organism	biolink:AnatomicalEntity	mondo			post-natal organism|post-hatching organism|postnatal mouse|postnatal organism|TS28 mouse	http://purl.obolibrary.org/obo/UBERON_0009953	A multicellular organism that existence_starts_with a post-embryonic stage.	
UBERON:0009955	neurogenic placode	biolink:AnatomicalEntity	mondo			placodae neurogenicae|neurogenic placodes	http://purl.obolibrary.org/obo/UBERON_0009955	Cranial ectodermal placode with potential to develop into a component of the nervous system, such as nerves or ganglia.	
UBERON:0034903	left atrium endocardium	biolink:AnatomicalEntity	mondo			endocardium of left atrium|left atrium endocardial tissue|left atrial endocardium	http://purl.obolibrary.org/obo/UBERON_0034903	Endocardium that is part of the left atrium.	
UBERON:0009958	bladder lumen	biolink:AnatomicalEntity	mondo			urinary bladder lumen|lumen of urinary bladder|bladder cavity|cavity of urinary bladder	http://purl.obolibrary.org/obo/UBERON_0009958	A anatomical space that is enclosed by a urinary bladder.	
UBERON:0009959	lumen of oropharynx	biolink:AnatomicalEntity	mondo			oropharynx lumen|oropharyngeal cavity	http://purl.obolibrary.org/obo/UBERON_0009959	A anatomical space that is enclosed by a oropharynx.	
UBERON:0034905	gland lumen	biolink:AnatomicalEntity	mondo			lumen of gland	http://purl.obolibrary.org/obo/UBERON_0034905		
NCBITaxon:5597	Scedosporium boydii	organism taxon	mondo	PMID:18077629|GC_ID:1		Cephalosporium boydii|Pseudallescheria boydii|Allescheria boydii	http://purl.obolibrary.org/obo/NCBITaxon_5597		
UBERON:0034907	pineal parenchyma	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0034907	Parenchymal tissue that forms the pineal gland.	
UBERON:0034908	scapular muscle	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0034908	Any of the muscles that are responsible for moving the scapula. In humans these are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle.	
UBERON:0034909	intermaxillary suture	biolink:AnatomicalEntity	mondo			intermaxillary suture of skull	http://purl.obolibrary.org/obo/UBERON_0034909	A cranial suture in the midline of the skull that connects the left and right maxilla bones	
NCBITaxon:5592	Microascales	organism taxon	mondo	GC_ID:1		Plectomycetes	http://purl.obolibrary.org/obo/NCBITaxon_5592		
NCBITaxon:5593	Microascaceae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_5593		
NCBITaxon:5598	Alternaria	organism taxon	mondo	PMID:24014900|GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_5598		
GO:0030808	regulation of nucleotide biosynthetic process	biolink:OntologyClass	mondo			regulation of nucleotide formation|regulation of nucleotide anabolism|regulation of nucleotide biosynthesis|regulation of nucleotide synthesis	http://purl.obolibrary.org/obo/GO_0030808	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nucleotides.	
GO:0030809	negative regulation of nucleotide biosynthetic process	biolink:OntologyClass	mondo			negative regulation of nucleotide synthesis|negative regulation of nucleotide formation|down-regulation of nucleotide biosynthetic process|negative regulation of nucleotide biosynthesis|down regulation of nucleotide biosynthetic process|inhibition of nucleotide biosynthetic process|downregulation of nucleotide biosynthetic process|negative regulation of nucleotide anabolism	http://purl.obolibrary.org/obo/GO_0030809	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nucleotides.	
GO:0042816	vitamin B6 metabolic process	biolink:OntologyClass	mondo			vitamin B6 metabolism	http://purl.obolibrary.org/obo/GO_0042816	The chemical reactions and pathways involving any of the vitamin B6 compounds: pyridoxal, pyridoxamine and pyridoxine and the active form, pyridoxal phosphate.	
HGNC:5716	IGKC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5716		
HP:0002597	Abnormality of the vasculature	biolink:PhenotypicFeature	mondo	UMLS:C0241657		Vascular abnormalities|Abnormality of the vasculature|Abnormality of blood vessels	http://purl.obolibrary.org/obo/HP_0002597	An abnormality of the vasculature.	
UBERON:0034921	multi organ part structure	biolink:AnatomicalEntity	mondo			anatomical cluster	http://purl.obolibrary.org/obo/UBERON_0034921	An multicellular anatomical structure that has subparts of multiple organs as a part.	
UBERON:0034922	cell cluster	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0034922	A cluster of cells, largely surrounded by a morphological boundary.	
UBERON:0034923	disconnected anatomical group	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0034923	Material anatomical entity consisting of multiple anatomical structures that are not connected to each other.	
UBERON:0010913	vertebral element	biolink:AnatomicalEntity	mondo			vertebra element|vertebra endochondral element|vertebral endochondral element|vertebra skeletal element	http://purl.obolibrary.org/obo/UBERON_0010913	Skeletal element that forms around the notochord and is part of the vertebral column.	
UBERON:0034925	anatomical collection	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0034925	A collection of anatomical structures that are alike in terms of their morphology or developmental origin.	
UBERON:0010911	ossicle	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010911	Skeletal element that is often isolated, small, and variable in composition.	
UBERON:0034926	anatomical row	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0034926	An anatomical collection that is arranged in a line.	
HGNC:5724	RBPJ	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5724		
UBERON:0010912	subdivision of skeleton	biolink:AnatomicalEntity	mondo			subdivision of skeleton (in vivo)|skeletal subdivision	http://purl.obolibrary.org/obo/UBERON_0010912	Anatomical cluster consisting of the skeletal elements (i.e. bone elements, cartilage elements, cartilage condensations) that are part of an individual subdivision of the organism. Excludes joints.	
UBERON:0034928	dorsal surface of penis	biolink:AnatomicalEntity	mondo			dorsum penis|dorsum of penis	http://purl.obolibrary.org/obo/UBERON_0034928		
UBERON:0034929	external soft tissue zone	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0034929	A region or zone on the surface of an organism that encompasses skin and any adnexa, down through muscles and bounded by underlying skeletal support structures.	
GO:0042827	platelet dense granule	biolink:OntologyClass	mondo			bull's eye body|platelet dense body	http://purl.obolibrary.org/obo/GO_0042827	Electron-dense granule occurring in blood platelets that stores and secretes adenosine nucleotides and serotonin. They contain a highly condensed core consisting of serotonin, histamine, calcium, magnesium, ATP, ADP, pyrophosphate and membrane lysosomal proteins.	
NCBITaxon:5579	Aureobasidium	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_5579		
GO:0005840	ribosome	biolink:OntologyClass	mondo			free ribosome|membrane bound ribosome|ribosomal RNA	http://purl.obolibrary.org/obo/GO_0005840	An intracellular organelle, about 200 A in diameter, consisting of RNA and protein. It is the site of protein biosynthesis resulting from translation of messenger RNA (mRNA). It consists of two subunits, one large and one small, each containing only protein and RNA. Both the ribosome and its subunits are characterized by their sedimentation coefficients, expressed in Svedberg units (symbol: S). Hence, the prokaryotic ribosome (70S) comprises a large (50S) subunit and a small (30S) subunit, while the eukaryotic ribosome (80S) comprises a large (60S) subunit and a small (40S) subunit. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site). Ribosomes from prokaryotes, eukaryotes, mitochondria, and chloroplasts have characteristically distinct ribosomal proteins.	
UBERON:0009917	kidney corticomedullary boundary	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009917	The region demarcating the renal medulla from the surrounding cortex; end-stage renal failure may be associated with loss of the normal corticomedullary boundary	
UBERON:0009919	ureter smooth muscle	biolink:AnatomicalEntity	mondo			ureteral smooth muscle layer|ureteral smooth muscle	http://purl.obolibrary.org/obo/UBERON_0009919	The smooth muscle tissue surrounding the epithelium of the ureter	
UBERON:0034940	venous sinus cavity	biolink:AnatomicalEntity	mondo			blood sinus lumen|blood sinus cavity	http://purl.obolibrary.org/obo/UBERON_0034940	An enlarged chamber in the blood sinus capable of accumulating a large volume of blood.	
UBERON:0009920	optic neural crest	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009920		
UBERON:0034932	epithelium of biliary system	biolink:AnatomicalEntity	mondo			biliary epithelium|biliary system epithelium|biliary tract epithelium	http://purl.obolibrary.org/obo/UBERON_0034932	The epithelial layer covering the biliary system. This includes the epithelium of the gallbladder (when present) as well as the intrahepatic and extrahepatic bile ducts.	
UBERON:0034933	layer of smooth muscle tissue	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0034933	Any organ component layer that consists of smooth muscle tissue.	
UBERON:0034936	pars plana of ciliary body	biolink:AnatomicalEntity	mondo			orbiculus ciliaris|ciliary ring	http://purl.obolibrary.org/obo/UBERON_0034936	Flattened posterior region of ciliary body	
NCBITaxon:5583	Exophiala	organism taxon	mondo	GC_ID:1		Nadsoniella|Wangiella	http://purl.obolibrary.org/obo/NCBITaxon_5583		
UBERON:0019310	glossopharyngeal nerve root	biolink:AnatomicalEntity	mondo			glossopharyngeal nerve root	http://purl.obolibrary.org/obo/UBERON_0019310		
UBERON:0019311	root of olfactory nerve	biolink:AnatomicalEntity	mondo			olfactory nerve root	http://purl.obolibrary.org/obo/UBERON_0019311	The initial segment of an olfactory nerve, leaving the central nervous system.	
CHEBI:29337	azanide	biolink:ChemicalSubstance	mondo			amide|dihydridonitrate(1-)|NH2(-)|azanide	http://purl.obolibrary.org/obo/CHEBI_29337		
CHEBI:32988	amide	biolink:ChemicalSubstance	mondo			amides|Amide	http://purl.obolibrary.org/obo/CHEBI_32988	An amide is a derivative of an oxoacid RkE(=O)l(OH)m (l =/= 0) in which an acidic hydroxy group has been replaced by an amino or substituted amino group.	
UBERON:0019319	exocrine gland of integumental system	biolink:AnatomicalEntity	mondo			integumental system exocrine gland|integumental exocrine gland	http://purl.obolibrary.org/obo/UBERON_0019319	An exocrine gland that is part of a integumental system.	
UBERON:0010983	levator scapulae pre-muscle mass	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010983		
UBERON:0019315	meibum	biolink:AnatomicalEntity	mondo			tarsal gland secretion	http://purl.obolibrary.org/obo/UBERON_0019315	an oily substance that prevents evaporation of the eye's tear film	
UBERON:0010977	flexor pre-muscle mass	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010977		
OBO:cl#lacks_plasma_membrane_part	lacks_plasma_membrane_part	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/cl#lacks_plasma_membrane_part		
UBERON:0019307	epithelium of external nose	biolink:AnatomicalEntity	mondo			epithelium of skin of external nose	http://purl.obolibrary.org/obo/UBERON_0019307	Epithelial layer that is part of the external part of the nose.	
CHEBI:29347	monocarboxylic acid amide	biolink:ChemicalSubstance	mondo			monocarboxylic acid amides	http://purl.obolibrary.org/obo/CHEBI_29347	A carboxamide derived from a monocarboxylic acid.	
CHEBI:29340	hydridonitrate(2-)	biolink:ChemicalSubstance	mondo			hydridonitrate(2-)|azanediide|imide|NH(2-)	http://purl.obolibrary.org/obo/CHEBI_29340	A divalent inorganic anion resulting from the removal of two protons from ammonia.	
UBERON:0019306	nose epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0019306		
UBERON:0019303	occipital sulcus	biolink:AnatomicalEntity	mondo			occipital lobe sulcus	http://purl.obolibrary.org/obo/UBERON_0019303		
UBERON:0019304	sensory organ epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0019304		
UBERON:0010963	trunk and cervical myotome group	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010963		
CHEBI:17334	penicillin	biolink:ChemicalSubstance	mondo			Penicillin|penicillins|penicillins	http://purl.obolibrary.org/obo/CHEBI_17334	Any member of the group of substituted penams containing two methyl substituents at position 2, a carboxylate substituent at position 3 and a carboxamido group at position 6.	
UBERON:0007329	pancreatic duct	biolink:AnatomicalEntity	mondo			pancreas duct|duct of pancreas|ductus pancreaticus	http://purl.obolibrary.org/obo/UBERON_0007329	A duct that collects and carries secretions of the exocrine pancreas to the intestine.	
GO:0005829	cytosol	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0005829	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.	
UBERON:0007324	pancreatic lobule	biolink:AnatomicalEntity	mondo			lobulus pancreaticus|pancreas lobe|pancreatic lobule	http://purl.obolibrary.org/obo/UBERON_0007324	A dense accumulation of exocrine glands in the pancreas often surrounding islets of Langerhans.	
UBERON:0009978	epicondyle	biolink:AnatomicalEntity	mondo			epicondylus	http://purl.obolibrary.org/obo/UBERON_0009978	.	
GO:0042866	pyruvate biosynthetic process	biolink:OntologyClass	mondo			pyruvate biosynthesis|pyruvate anabolism|pyruvate synthesis|pyruvate formation	http://purl.obolibrary.org/obo/GO_0042866	The chemical reactions and pathways resulting in the formation of pyruvate, 2-oxopropanoate.	
UBERON:0010959	craniocervical muscle	biolink:AnatomicalEntity	mondo			muscle of head and neck|muscle of head or neck	http://purl.obolibrary.org/obo/UBERON_0010959	Any muscle organ that is part of either the head or the neck.	
UBERON:0009970	epithelium of pancreatic duct	biolink:AnatomicalEntity	mondo			pancreatic ductal epithelium|pancreatic duct epithelium	http://purl.obolibrary.org/obo/UBERON_0009970	An epithelium that is part of a pancreatic duct.	
UBERON:0009972	ureteropelvic junction	biolink:AnatomicalEntity	mondo			pelvoureteric junction|pelviureteric junction	http://purl.obolibrary.org/obo/UBERON_0009972	The junction between the ureter and the renal pelvis of the kidney	
UBERON:0009973	ureterovesical junction	biolink:AnatomicalEntity	mondo			vesico-ureteral junction|vesicoureteric junction|vesico-ureteric junction	http://purl.obolibrary.org/obo/UBERON_0009973	The valve-like structure found at the site of entry of the ureter into the urinary bladder, normally displays an oblique angulation through the detrusor to avoid reflux of urine up the ureters and the kidney	
UBERON:0009974	lumen of Rathke's pouch	biolink:AnatomicalEntity	mondo			Rathkes pouch invagination	http://purl.obolibrary.org/obo/UBERON_0009974	An anatomical cavity that surrounded_by a Rathke's pouch.	
NCBITaxon:88456	Cyclospora cayetanensis	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_88456		
UBERON:0007301	appendage blood vessel	biolink:AnatomicalEntity	mondo			fin blood vessel|limb blood vessel	http://purl.obolibrary.org/obo/UBERON_0007301	A blood vessel that is part of a limb/fin.	
UBERON:0007300	pectoral appendage blood vessel	biolink:AnatomicalEntity	mondo			pectoral fin blood vessel	http://purl.obolibrary.org/obo/UBERON_0007300	A blood vessel that is part of a pectoral appendage.	
CHEBI:17359	sulfite	biolink:ChemicalSubstance	mondo			sulfite|trioxidosulfate(2-)|SO3(2-)|sulphite|[SO3](2-)|SO3|trioxosulfate(2-)|SULFITE ION|trioxosulfate(IV)	http://purl.obolibrary.org/obo/CHEBI_17359	A sulfur oxoanion that is the conjugate base of hydrogen sulfite (H2SO3).	
NCBITaxon:122277	Pectobacterium	organism taxon	mondo	PMID:11155980|GC_ID:11|PMID:9779605			http://purl.obolibrary.org/obo/NCBITaxon_122277		
UBERON:0007307	pronephric glomerular basement membrane	biolink:AnatomicalEntity	mondo			pronephric glomerular filtration membrane	http://purl.obolibrary.org/obo/UBERON_0007307	A glomerular basement membrane that is part of a pronephros.	
UBERON:0007306	pronephric glomerular capillary	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0007306	A glomerular capillary that is part of a pronephros.	
UBERON:0010949	sternooccipital muscle	biolink:AnatomicalEntity	mondo			sternooccipital	http://purl.obolibrary.org/obo/UBERON_0010949	A muscle organ that has_muscle_insertion a occipital bone and has_muscle_origin a sternum.	
UBERON:0007304	appendage vasculature	biolink:AnatomicalEntity	mondo			fin vasculature	http://purl.obolibrary.org/obo/UBERON_0007304	A vasculature that is part of a limb/fin.	
UBERON:0007303	pharyngeal vasculature	biolink:AnatomicalEntity	mondo			branchial vasculature	http://purl.obolibrary.org/obo/UBERON_0007303	A vasculature that is part of a chordate pharynx.	
UBERON:0007302	pectoral appendage vasculature	biolink:AnatomicalEntity	mondo			pectoral fin vasculature	http://purl.obolibrary.org/obo/UBERON_0007302	A vasculature that is part of a pectoral appendage.	
MONDO:0021097	intraductal breast papilloma	biolink:Disease	mondo	NCIT:C3863|EFO:1000306|DOID:1626|SCTID:254848002|SCTID:99571000119102		ductal breast papilloma|intraductal papilloma of the breast|duct papilloma of breast|breast duct papilloma|breast papilloma|mammary duct papilloma|papilloma of the breast|duct papilloma of the breast|papilloma of breast|intraductal breast papilloma|intraductal papilloma of breast	http://purl.obolibrary.org/obo/MONDO_0021097	A benign papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by benign epithelial and myoepithelial proliferations. Intraductal breast papillomas are classified as central, when they arise in large ducts, or peripheral, when they arise in the terminal ductal lobular units.	SNOMEDCT:99571000119102|DOID:1626|NCIT:C3863|SNOMEDCT:254848002
MONDO:0021096	papillary epithelial neoplasm	biolink:Disease	mondo	UMLS:C1335324|NCIT:C8429		papillary epithelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0021096		NCIT:C8429|UMLS:C1335324
MONDO:0045063	major salivary gland adenoid cystic carcinoma	biolink:Disease	mondo	NCIT:C5905|UMLS:C1334548		adenoid cystic carcinoma of the major salivary gland|major salivary gland adenoid cystic carcinoma|major salivary gland adenoid cystic cancer|adenoid cystic carcinoma of major salivary gland	http://purl.obolibrary.org/obo/MONDO_0045063	An aggressive carcinoma that arises from the major salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues.	NCIT:C5905|UMLS:C1334548
MONDO:0021095	parkinsonian disorder	biolink:Disease	mondo	MESH:D020734			http://purl.obolibrary.org/obo/MONDO_0021095	A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA.	MESH:D020734
MONDO:0021094	immunodeficiency disease	biolink:Disease	mondo	SCTID:234532001|ICD9:279.3|COHD:433740|NCIT:C3131|OMIMPS:300755		immunodeficiency syndrome|immunodeficiency disorder|immuno-deficiency|immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0021094	Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.	SNOMEDCT:234532001|NCIT:C3131
MONDO:0021093	cranioectodermal dysplasia 1	biolink:Disease	mondo	OMIM:218330		Levin syndrome 1|cranioectodermal dysplasia 1; CED1|cranioectodermal dysplasia caused by mutation in IFT122|cranioectodermal dysplasia type 1|IFT122 cranioectodermal dysplasia|Sensenbrenner syndrome|cranioectodermal dysplasia 1|CED1	http://purl.obolibrary.org/obo/MONDO_0021093	Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene.	http://identifiers.org/omim/218330
MONDO:0045060	intraductal cribriform breast adenocarcinoma	biolink:Disease	mondo	ICDO:8201/2|UMLS:C1334248|NCIT:C5138		non-infiltrating cribriform ductal breast carcinoma|cribriform ductal breast carcinoma in situ|cribriform ductal carcinoma in situ of breast|ductal carcinoma in situ of breast with cribriform pattern|ductal carcinoma in situ of the breast with cribriform pattern|cribriform ductal carcinoma in situ of the breast|non-invasive cribriform ductal breast carcinoma|DCIS of breast with cribriform pattern|cribriform DCIS of breast|DCIS of the breast with cribriform pattern|cribriform DCIS of the breast|intraductal cribriform breast adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0045060	A ductal carcinoma in situ of the breast characterized by the presence of a cribriform architectural pattern.	NCIT:C5138|UMLS:C1334248
MONDO:0021092	fallopian tube neoplasm	biolink:Disease	mondo	SCTID:126916003|UMLS:C0015558|NCIT:C3032|ICD9:239.5		tumor of the fallopian tube|fallopian tube neoplasm|tumor of fallopian tube|fallopian tube neoplasm (disease)|neoplasm of the fallopian tube|neoplasm of fallopian tube|fallopian tube tumor	http://purl.obolibrary.org/obo/MONDO_0021092	A benign or malignant neoplasm affecting the fallopian tube. Representative examples of benign neoplasms include papilloma, adenofibroma, and leiomyoma. Representative examples of malignant neoplasms include carcinoma, carcinosarcoma, and adenosarcoma.	SNOMEDCT:126916003|NCIT:C3032|UMLS:C0015558
MONDO:0021091	papillary cystadenoma	biolink:Disease	mondo	NCIT:C2974|MESH:D018292|ICDO:8450/0|UMLS:C0010636		cystadenoma, papillary, benign|papillary cystadenoma	http://purl.obolibrary.org/obo/MONDO_0021091	A serous or mucinous benign or low malignant potential cystic epithelial neoplasm. It is characterized by the presence of glandular epithelial cells forming papillary structures.	MESH:D018292|UMLS:C0010636|NCIT:C2974
MONDO:0021090	lipid-rich breast carcinoma	biolink:Disease	mondo	UMLS:C1517894|DOID:7076|NCIT:C40365		lipid secreting breast carcinoma|lipid-rich breast carcinoma|breast lipid-rich carcinoma	http://purl.obolibrary.org/obo/MONDO_0021090	An invasive breast carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells.	DOID:7076|UMLS:C1517894|NCIT:C40365
NCBITaxon:730	[Haemophilus] ducreyi	organism taxon	mondo	GC_ID:11		Haemophilus ducreyi|Coccobacillus ducreyi|Bacillus ulceris cancrosi	http://purl.obolibrary.org/obo/NCBITaxon_730		
HP:0002538	Abnormality of the cerebral cortex	biolink:PhenotypicFeature	mondo	UMLS:C4025701			http://purl.obolibrary.org/obo/HP_0002538	An abnormality of the cerebral cortex.	
MONDO:0045068	minor salivary gland adenoid cystic carcinoma	biolink:Disease	mondo	NCIT:C5936|UMLS:C1334769		minor salivary gland adenoid cystic carcinoma|adenoid cystic carcinoma of minor salivary gland|adenoid cystic carcinoma of the minor salivary gland	http://purl.obolibrary.org/obo/MONDO_0045068	An aggressive carcinoma that arises from the minor salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass.	NCIT:C5936|UMLS:C1334769
MONDO:0021099	intraductal papillomatosis	biolink:Disease	mondo	UMLS:C0334377|NCIT:C7363|ICDO:8505/0		intraductal papillomatosis|duct papillomatosis	http://purl.obolibrary.org/obo/MONDO_0021099	A neoplastic process characterized by the presence of multiple intraductal papillomas.	NCIT:C7363|UMLS:C0334377
MONDO:0045069	minor salivary gland carcinoma	biolink:Disease	mondo	UMLS:C1334771|NCIT:C5957		minor salivary gland carcinoma|minor salivary gland cancer|carcinoma of the minor salivary gland|carcinoma of minor salivary gland	http://purl.obolibrary.org/obo/MONDO_0045069	A carcinoma that arises from the minor salivary glands. Representative examples include adenoid cystic carcinoma, acinic cell carcinoma, polymorphous low grade adenocarcinoma, and mucinous adenocarcinoma.	NCIT:C5957|UMLS:C1334771
MONDO:0021098	papillomatosis	biolink:Disease	mondo	NCIT:C3713		papillomatosis	http://purl.obolibrary.org/obo/MONDO_0021098	Glandular or squamous cell neoplastic proliferations characterized by the formation of multiple papillary structures diffusely involving a specific anatomic site.	NCIT:C3713
HP:0002536	Abnormal cortical gyration	biolink:PhenotypicFeature	mondo	UMLS:C1856019		Cerebral gyral anomalies|Abnormal gyration	http://purl.obolibrary.org/obo/HP_0002536	An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain.	
MONDO:0021086	gingival neoplasm	biolink:Disease	mondo	UMLS:C0017570|NCIT:C3057|SCTID:126792007		tumor of the gum|gum neoplasm|tumor of gum|gingival neoplasm|gingiva neoplasm|gingival tumor|tumor of the gingiva|neoplasm of gingiva|neoplasm of the gum|gingiva tumor|neoplasm of gum|gum tumor|gingiva neoplasm (disease)|tumor of gingiva|neoplasm of the gingiva	http://purl.obolibrary.org/obo/MONDO_0021086	A benign or malignant neoplasm that affects the upper or lower gingiva.	SNOMEDCT:126792007|UMLS:C0017570|NCIT:C3057
MONDO:0021085	gastric neoplasm	biolink:Disease	mondo	SCTID:126824007|EFO:0003897|MESH:D013274|UMLS:C0038356|NCIT:C3387		gastric neoplasm|tumor of the stomach|neoplasm of stomach|stomach neoplasm|gastric tumor|stomach neoplasm (disease)|stomach tumor|neoplasm of the stomach|tumor of stomach	http://purl.obolibrary.org/obo/MONDO_0021085	A benign or malignant neoplasm involving the stomach.	UMLS:C0038356|SNOMEDCT:126824007|NCIT:C3387|MESH:D013274
MONDO:0021084	vision disorder	biolink:Disease	mondo	SCTID:95677002|UMLS:C0042790|NCIT:C35126|MESH:D014786		disorder of vision|vision disorder|visual system disorder|visual Field disorder|visual disorder|disorder of visual system	http://purl.obolibrary.org/obo/MONDO_0021084	Any impairment to the vision.	UMLS:C0042790|SNOMEDCT:95677002|NCIT:C35126|MESH:D014786
NCBITaxon:747	Pasteurella multocida	organism taxon	mondo	GC_ID:11|PMID:15184562		Micrococcus gallicidus|Pasteurella gallicida|Pasteurella cholerae-gallinarum|Bacterium multocidum	http://purl.obolibrary.org/obo/NCBITaxon_747		
MONDO:0021083	congenital fibrosis of extraocular muscles type 1	biolink:Disease	mondo	OMIM:135700		fibrosis of extraocular muscles, congenital, 3B|CFEOM1|fibrosis of extraocular muscles, congenital, 1; CFEOM1|fibrosis of extraocular muscles, congenital, 1|congenital fibrosis of extraocular muscles caused by mutation in KIF21A|KIF21A congenital fibrosis of extraocular muscles|ophthalmoplegia, congenital|blepharoptosis with absent eye movements|Feom1 locus	http://purl.obolibrary.org/obo/MONDO_0021083	Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the KIF21A gene.	http://identifiers.org/omim/135700
MONDO:0045071	mycosis fungoides variant	biolink:Disease	mondo	UMLS:C1513782|NCIT:C39644		mycosis fungoides variant	http://purl.obolibrary.org/obo/MONDO_0045071		NCIT:C39644|UMLS:C1513782
MONDO:0021082	Meckel diverticulum neoplasm	biolink:Disease	mondo	UMLS:C0345839|SCTID:126836001		neoplasm of Meckel's diverticulum|Meckel's diverticulum tumor|Meckel's diverticulum neoplasm|tumor of Meckel's diverticulum|Meckel's diverticulum neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0021082	A neoplasm involving a Meckel's diverticulum.	SNOMEDCT:126836001|UMLS:C0345839
GO:0030886	negative regulation of myeloid dendritic cell activation	biolink:OntologyClass	mondo			down-regulation of myeloid dendritic cell activation|down regulation of myeloid dendritic cell activation|inhibition of myeloid dendritic cell activation|downregulation of myeloid dendritic cell activation	http://purl.obolibrary.org/obo/GO_0030886	Any process that stops, prevents, or reduces the frequency, rate or extent of myeloid dendritic cell activation.	
MONDO:0045070	digestive system melanoma	biolink:Disease	mondo	UMLS:C1333798|GARD:0010409|NCIT:C7091		gastrointestinal melanoma|melanoma (disease) of digestive system|digestive system melanoma (disease)|digestive system melanoma	http://purl.obolibrary.org/obo/MONDO_0045070	A melanoma that arises from any part of the digestive system.	UMLS:C1333798|NCIT:C7091
MONDO:0021081	anti-NMDA receptor encephalitis	biolink:Disease	mondo	MESH:D060426|NCIT:C94853		anti-NMDA receptor encephalitis	http://purl.obolibrary.org/obo/MONDO_0021081	An autoimmune acute encephalitis caused by antibodies against the glutamate NMDA receptor. It usually affects females and in the majority of cases it is associated with the presence of a tumor, most commonly an ovarian teratoma. The presence of a tumor in patients with this form of encephalitis implies that the latter is a paraneoplastic syndrome. It is manifested with psychiatric symptoms and epileptic seizures. It is a potentially lethal disorder; however, it is usually reversible with the prompt removal of the tumor.	MESH:D060426|NCIT:C94853
GO:0030887	positive regulation of myeloid dendritic cell activation	biolink:OntologyClass	mondo			up regulation of myeloid dendritic cell activation|activation of myeloid dendritic cell activation|stimulation of myeloid dendritic cell activation|upregulation of myeloid dendritic cell activation|up-regulation of myeloid dendritic cell activation	http://purl.obolibrary.org/obo/GO_0030887	Any process that stimulates, induces or increases the rate of myeloid dendritic cell activation.	
MONDO:0021080	blood vessel neoplasm	biolink:Disease	mondo	NCIT:C7387|SCTID:126736007		neoplasm of blood vessel|blood vessel neoplasm|tumor of blood vessel|blood vessel neoplasm (disease)|blood vessel tumor	http://purl.obolibrary.org/obo/MONDO_0021080	A neoplasm arising from arteries or veins.	SNOMEDCT:126736007|NCIT:C7387
MONDO:0045072	ectopic hormone secretion syndrome associated with neoplasia	biolink:Disease	mondo	UMLS:C0851689|NCIT:C4065		neoplasm associated ectopic hormone secretion syndrome|ectopic hormone secretion syndrome associated with neoplasia	http://purl.obolibrary.org/obo/MONDO_0045072	Abnormal secretion of hormones in conjunction with neoplastic growth occurring anywhere in the body.	NCIT:C4065|UMLS:C0851689
GO:0030885	regulation of myeloid dendritic cell activation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0030885	Any process that modulates the frequency or rate of myeloid dendritic cell activation.	
MONDO:0060688	hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency	biolink:Disease	mondo	OMIM:617953|UMLS:CN244571		hyperthyroxinemia, euthyroid, due to decreased peripheral conversion of T4|hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency	http://purl.obolibrary.org/obo/MONDO_0060688		http://identifiers.org/omim/617953|UMLS:CN244571
NCBITaxon:745	Pasteurella	organism taxon	mondo	GC_ID:11|PMID:1736960			http://purl.obolibrary.org/obo/NCBITaxon_745		
MONDO:0021089	peripheral nervous system cancer	biolink:Disease	mondo	NCIT:C4961|SCTID:254986007|UMLS:C0751428|ICD9:171.9		malignant tumor of peripheral nervous system|peripheral nervous system cancer|malignant peripheral nervous system neoplasm|cancer of peripheral nervous system|malignant neoplasm of peripheral nerve|malignant peripheral nerve tumor|malignant neoplasm of the peripheral nerve|malignant neoplasm of the PNS|malignant neoplasms, peripheral nerve|malignant neoplasm of PNS|malignant PNS tumor|malignant PNS neoplasm|malignant neoplasm of peripheral nervous system|malignant neoplasm of the peripheral nervous system|malignant peripheral nerve neoplasm|malignant tumor of the PNS|malignant peripheral nervous system tumor|peripheral nervous system neoplasms, malignant|malignant tumor of PNS|malignant tumor of peripheral nerve|malignant tumor of the peripheral nerve|malignant tumor of the peripheral nervous system	http://purl.obolibrary.org/obo/MONDO_0021089	Malignant growth of cells in the peripheral nervous system (PNS)or Autonomic Nervous System (ANS), without specification as to location	UMLS:C0751428|SNOMEDCT:254986007|NCIT:C4961
MONDO:0021088	papillary meningioma	biolink:Disease	mondo	NCIT:C3904|UMLS:C3163622|ICDO:9538/3|ONCOTREE:PPM		papillary meningioma	http://purl.obolibrary.org/obo/MONDO_0021088	A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern.	UMLS:C3163622|NCIT:C3904
MONDO:0021087	obsolete malignant granular cell myoblastoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0021087		
MONDO:0060690	phenytoin toxicity	biolink:Disease	mondo	OMIM:617955		fetal hydantoin syndrome|arene oxide detoxification defect|diphenylhydantoin, defect in hydroxylation of|phenytoin toxicity	http://purl.obolibrary.org/obo/MONDO_0060690		http://identifiers.org/omim/617955
GO:0015267	channel activity	biolink:OntologyClass	mondo			channel-forming toxin activity|channel/pore class transporter activity|pore activity|alpha-type channel activity|nonselective channel activity|pore class transporter activity|substrate-specific channel activity	http://purl.obolibrary.org/obo/GO_0015267	Enables the energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel. Stereospecificity is not exhibited but this transport may be specific for a particular molecular species or class of molecules.	
MONDO:0033091	ichthyosis, congenital, autosomal recessive 14	biolink:Disease	mondo	DOID:0080258|UMLS:CN317536|OMIM:617571		ARCI14|autosomal recessive congenital ichthyosis 14|ichthyosis, congenital, autosomal recessive 14; ARCI14	http://purl.obolibrary.org/obo/MONDO_0033091		http://identifiers.org/omim/617571|UMLS:CN317536|DOID:0080258
MONDO:0033092	ichthyosis, congenital, autosomal recessive 13	biolink:Disease	mondo	UMLS:CN321864|DOID:0080257|OMIM:617574		ARCI13|autosomal recessive congenital ichthyosis 13|ichthyosis, congenital, autosomal recessive 13; ARCI13	http://purl.obolibrary.org/obo/MONDO_0033092		http://identifiers.org/omim/617574|DOID:0080257|UMLS:CN321864
MONDO:0021075	neoplastic polyp	biolink:Disease	mondo	UMLS:C1334941|NCIT:C7068		neoplastic polyp	http://purl.obolibrary.org/obo/MONDO_0021075		UMLS:C1334941|NCIT:C7068
GO:0030879	mammary gland development	biolink:OntologyClass	mondo			mammogenesis	http://purl.obolibrary.org/obo/GO_0030879	The process whose specific outcome is the progression of the mammary gland over time, from its formation to the mature structure. The mammary gland is a large compound sebaceous gland that in female mammals is modified to secrete milk. Its development starts with the formation of the mammary line and ends as the mature gland cycles between nursing and weaning stages.	
MONDO:0021074	precancerous condition	biolink:Disease	mondo	MESH:D011230|NCIT:C3341		premalignant condition|precancerous condition|premalignant state|precancerous state	http://purl.obolibrary.org/obo/MONDO_0021074	A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia.	MESH:D011230|NCIT:C3341
MONDO:0021073	paraneoplastic syndrome	biolink:Disease	mondo	UMLS:C0030472|SCTID:49783001|MESH:D010257|NCIT:C3311		paraneoplastic syndrome	http://purl.obolibrary.org/obo/MONDO_0021073	A classification for rare disorders of diverse organ systems (endocrine, neuromuscular, gastrointestinal, renal, dermatologic, rheumatologic, hematologic) that are affected by substances secreted by a distant neoplasm but not by the action of the neoplasm itself metastasizing to that organ or tissue. Less than 1 % of neoplasms are associated with these syndromes. An immune-mediated response to neoplasm-elaborated proteins may be the cause of these syndromes. Additionally, their manifestation may signal the presence of an occult neoplasm, potentially at an earlier stage of disease thereby leading to a better clinical outcome. Constitutional signs may include fever, night sweats, anorexia and cachexia. Clinical course is usually progressive. Prognosis is variable depending on the effective treatment of the underlying neoplasm.	UMLS:C0030472|MESH:D010257|SNOMEDCT:49783001|NCIT:C3311
MONDO:0021072	sympathetic paraganglioma	biolink:Disease	mondo	SCTID:399343007|NCIT:C4216|MESH:C531777|ICDO:8681/1		chromaffin neoplasm|chromaffin tumor|sympathetic nervous system paraganglioma|Chromaffinoma|sympathetic paraganglioma|sympathetic Paraganglionic neoplasm|paraganglioma of sympathetic nervous system	http://purl.obolibrary.org/obo/MONDO_0021072	A benign or malignant paraganglioma arising from the chromaffin cells of the paraganglia that are located along the sympathetic nerves. It includes extra-adrenal paragangliomas and paragangliomas that arise from the adrenal medulla. The latter are commonly referred to as pheochromocytomas. Representative examples of extra-adrenal sympathetic paragangliomas include the bladder, and superior and inferior paraaortic paragangliomas. Clinical signs are related to the secretion of catecholamines resulting in hypertension.	NCIT:C4216|SNOMEDCT:399343007|MESH:C531777
MONDO:0021071	laryngeal neoplasm	biolink:Disease	mondo	EFO:0003817|SCTID:126692004|UMLS:C0023055|MESH:D007822|NCIT:C3156		tumor of larynx|neoplasm of the larynx|larynx neoplasm|larynx neoplasm (disease)|neoplasm of larynx|larynx tumor|tumor of the larynx|laryngeal neoplasm|laryngeal tumor	http://purl.obolibrary.org/obo/MONDO_0021071	A benign or malignant neoplasm involving the larynx.	SNOMEDCT:126692004|UMLS:C0023055|MESH:D007822|NCIT:C3156
MONDO:0021070	sublingual gland carcinoma	biolink:Disease	mondo	SCTID:254466003|NCIT:C8397|UMLS:C0345611		sublingual gland cancer|carcinoma of sublingual gland|carcinoma of the sublingual gland|sublingual gland carcinoma	http://purl.obolibrary.org/obo/MONDO_0021070	A carcinoma that arises from the sublingual gland. Representative examples include cystadenocarcinoma and mucoepidermoid carcinoma.	NCIT:C8397|SNOMEDCT:254466003|UMLS:C0345611
MONDO:0021079	childhood neoplasm	biolink:Disease	mondo	NCIT:C6283		childhood neoplasm (disease)|childhood neoplasm|pediatric tumor|pediatric neoplasm (disease)|pediatric neoplasm (disease)|neoplasm|pediatric neoplasm|neoplasm|childhood tumor|neoplasm (disease) of childhood	http://purl.obolibrary.org/obo/MONDO_0021079	A benign or malignant neoplasm arising during childhood.	NCIT:C6283
MONDO:0021078	glandular papilloma	biolink:Disease	mondo	NCIT:C6880		glandular papilloma	http://purl.obolibrary.org/obo/MONDO_0021078		NCIT:C6880
MONDO:0021077	cystic neoplasm	biolink:Disease	mondo	UMLS:C1333190|NCIT:C6784		cystic neoplasm|cystic tumor	http://purl.obolibrary.org/obo/MONDO_0021077	A benign or malignant neoplasm that contains a single or multiple cystic spaces. Examples include cystadenoma, mucinous cystadenocarcinoma, and serous cystadenocarcinoma.	NCIT:C6784|UMLS:C1333190
MONDO:0008099	congenital stationary night blindness autosomal dominant 2	biolink:Disease	mondo	OMIM:163500|MESH:C566869|UMLS:C1876182|DOID:0110863		night blindness, congenital stationary, autosomal dominant 2|congenital stationary night blindness caused by mutation in PDE6B|CSNBAD2|Rambusch type congenital stationary night blindness|night blindness, congenital stationary, Rambusch type|night blindness, congenital stationary, autosomal dominant type 2|night blindness, congenital stationary, autosomal dominant 2; CSNBAD2|congenital stationary night blindness autosomal dominant type 2|PDE6B congenital stationary night blindness	http://purl.obolibrary.org/obo/MONDO_0008099	Any congenital stationary night blindness in which the cause of the disease is a mutation in the PDE6B gene.	http://identifiers.org/omim/163500|UMLS:C1876182|MESH:C566869|DOID:0110863
MONDO:0021076	pancreatic exocrine neoplasm	biolink:Disease	mondo	NCIT:C4445|ICD9:235.5|SCTID:254604005|UMLS:C0345920		pancreatic exocrine neoplasm|tumor of exocrine pancreas|neoplasm of the exocrine pancreas|exocrine pancreas neoplasm (disease)|exocrine pancreas neoplasm|neoplasm of exocrine pancreas|exocrine pancreas tumor|tumor of the exocrine pancreas|pancreatic exocrine tumor	http://purl.obolibrary.org/obo/MONDO_0021076	A benign or malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue.	UMLS:C0345920|SNOMEDCT:254604005|NCIT:C4445
MONDO:0008097	linear nevus sebaceus syndrome	biolink:Disease	mondo	ICD10:Q85.8|GARD:0010291|DOID:0111530|NCIT:C4678|OMIM:163200|Orphanet:2612	gard_rare|ordo_disease	Sfm syndrome|SFM syndrome|SFM|Nevus sebaceus syndrome|linear sebaceous Nevus syndrome|Nevus sebaceous of Jadassohn|SCHIMMELPENNING-FEUERSTEIN-MIMS syndrome; SFM|Schimmelpenning syndrome|linear nevus sebaceous syndrome|sebaceous Nevus syndrome, linear|organoid nevus syndrome|Jadassohn Nevus phakomatosis|Nevus sebaceus of Jadassohn|Jadassohn nevus phakomatosis|Epidermal Nevus syndrome, formerly|linear sebaceous Nevus|epidermal nevus syndrome|Schimmelpenning Feuerstein Mims syndrome|Solomon syndrome|JNP|organoid Nevus phakomatosis|SCHIMMELPENNING-FEUERSTEIN-MIMS syndrome|organoid nevus phakomatosis|sebaceous nevus syndrome linear|organoid Nevus	http://purl.obolibrary.org/obo/MONDO_0008097	Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement).	NCIT:C4678|ORPHA:2612|DOID:0111530|http://identifiers.org/omim/163200
GO:0015238		biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0015238		
FOODON:00001771	cow milk based food product	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00001771		
MONDO:0008098	mesomelic dwarfism, Nievergelt type	biolink:Disease	mondo	GARD:0003554|MESH:C536120|Orphanet:2633|OMIM:163400|UMLS:C0432231|SCTID:33979003|ICD10:Q78.8	ordo_malformation_syndrome	mesomelic dysplasia, Nievergelt type|Nievergelt syndrome|radioulnar synostosis and a typical rhomboid shape of the tibia and fibula|mesomelic dwarfism Nievergelt type	http://purl.obolibrary.org/obo/MONDO_0008098		SNOMEDCT:33979003|ORPHA:2633|MESH:C536120|UMLS:C0432231|http://identifiers.org/omim/163400
MONDO:0008095	nevus anemicus (disease)	biolink:Disease	mondo	NCIT:C3943|SCTID:40929003|OMIM:163050|ICD9:709.09|HP:0025105		Nevus anemicus|NEVUS anemicus|anemicus Nevus	http://purl.obolibrary.org/obo/MONDO_0008095	A capillary vascular anomaly that is characterized by hypopigmented macules.	NCIT:C3943|SNOMEDCT:40929003|http://identifiers.org/omim/163050
HGNC:10298	RPL10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10298		
MONDO:0008096	nevus flammeus of nape of neck	biolink:Disease	mondo	OMIM:163100|MESH:C567524		erythema nuchae|Unna Nevus|nevus flammeus of nape of neck	http://purl.obolibrary.org/obo/MONDO_0008096		MESH:C567524|http://identifiers.org/omim/163100
MONDO:0008093	nevus, epidermal	biolink:Disease	mondo	OMIM:162900|DOID:0111162|NCIT:C4088|MESH:C580062|GARD:0013025		Nevus, woolly hair|Nevus, Keratinocytic, nonepidermolytic|nevus, epidermal|Nevus sebaceous|nonepidermolytic keratinocytic nevus|Epidermal Nevus	http://purl.obolibrary.org/obo/MONDO_0008093	A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed.	http://identifiers.org/omim/162900|DOID:0111162|MESH:C580062|NCIT:C4088
MONDO:0008094	familial multiple nevi flammei	biolink:Disease	mondo	UMLS:CN205384|OMIM:163000|UMLS:C0235752|ICD10:Q82.5|Orphanet:624|NCIT:C3840|DOID:0111529|GARD:0003986|MedDRA:10067193|SCTID:416377005	ordo_morphological_anomaly	port-wine stain of skin|nevi flammei, familial multiple|port wine stain|familial multiple port-wine stains|capillary malformations, congenital; CMC|CMC|Nevus flammeus|port-wine stain familial multiple|capillary malformations, congenital|capillary malformations|port wine Nevus|port-wine stain|port wine birthmark|port wine stain of skin|Salmon patch Nevus|port wine stain of the skin|port wine type hemangioma	http://purl.obolibrary.org/obo/MONDO_0008094	A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color.	MEDDRA:10067193|NCIT:C3840|ORPHA:624|SNOMEDCT:416377005|DOID:0111529|MESH:D019339|UMLS:C0235752|http://identifiers.org/omim/163000|UMLS:CN205384
HP:0002514	Cerebral calcification	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:17944005|UMLS:C0270685		Brain calcification|Intracerebral calcifications|Intracranial calcification|Abnormal deposits of calcium in the brain|Intracranial calcifications	http://purl.obolibrary.org/obo/HP_0002514	The presence of calcium deposition within brain structures.	
MONDO:0008091	abnormal neutrophil chemotactic response	biolink:Disease	mondo	OMIM:162820		neutrophil chemotactic response|neutrophil migration|neutrophil migration; NM|NM	http://purl.obolibrary.org/obo/MONDO_0008091		http://identifiers.org/omim/162820
MONDO:0008092	hereditary neutrophilia	biolink:Disease	mondo	Orphanet:279943|OMIM:162830|SCTID:129639005|DOID:0090120|MESH:C563010|UMLS:C0543669|ICD10:D72.8	ordo_disease	neutrophilia, hereditary	http://purl.obolibrary.org/obo/MONDO_0008092	A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has material basis in heterozygous mutation in the CSF3R gene on chromosome 1p34.	http://identifiers.org/omim/162830|UMLS:C0543669|ORPHA:279943|DOID:0090120|MESH:C563010|SNOMEDCT:129639005
MONDO:0008090	cyclic hematopoiesis	biolink:Disease	mondo	MedDRA:10053176|DOID:5339|SCTID:191347008|NCIT:C3820|ICD10:D70|ICD10:D70.4|Orphanet:2686|GARD:0006229|MESH:C536227|COHD:432297|OMIM:162800|ICD9:288.02	ordo_disease	neutropenia, periodic|neutropenia cyclic|cyclic neutropenia|CN|cyclic agranulocytosis|periodic neutropenia|dysplasia, myelocytic periodic|cyclical neutropenia|CH|cyclic hematopoiesis	http://purl.obolibrary.org/obo/MONDO_0008090	A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever.	MEDDRA:10053176|NCIT:C3820|DOID:5339|ORPHA:2686|MESH:C536227|UMLS:C0221023|SNOMEDCT:191347008|http://identifiers.org/omim/162800
HGNC:10297	RPIA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10297		
HGNC:10294	RPE65	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10294		
HGNC:10295	RPGR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10295		
MONDO:0021064	jugulotympanic paraganglioma	biolink:Disease	mondo	GARD:0010599|ICD9:239.7|ICDO:8690/1|NCIT:C3061|UMLS:C0017671|SCTID:127030001	gard_rare	Glomus tumor|Paraganglioma - glomus jugulare|neoplasm of the glomus jugulare|neoplasm of glomus jugulare|glomus jugulare tumor|jugulotympanic paraganglioma|parasympathetic paraganglioma of basicranium|basicranium parasympathetic paraganglioma|tumor of the glomus jugulare|tumor of glomus jugulare|jugular paraganglioma|glomus jugulare neoplasm	http://purl.obolibrary.org/obo/MONDO_0021064	A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the base of the skull and middle ear.	SNOMEDCT:127030001|NCIT:C3061|UMLS:C0017671
MONDO:0021063	malignant colon neoplasm	biolink:Disease	mondo	DOID:219|COHD:4180790|ICD9:153|SCTID:363406005|ICD10:C18.9|ICD9:153.9|UMLS:C0007102|NCIT:C9242|ICD9:153.8|ICD10:C18		malignant neoplasm of colon|malignant neoplasm of the colon|malignant colonic neoplasm|malignant colon tumor|cancer of colon|colon tumor, malignant|malignant colon neoplasm|malignant tumor of the colon|malignant tumor of colon|malignant colonic tumor|colon neoplasm, malignant|colon cancer	http://purl.obolibrary.org/obo/MONDO_0021063	A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma.	NCIT:C9242|DOID:219|SNOMEDCT:363406005|UMLS:C0007102
MONDO:0021062	obsolete hereditary acrokeratotic poikiloderma of Kindler-Weary	biolink:Disease	mondo	Orphanet:306539|UMLS:CN203514	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0021062		UMLS:CN203514|ORPHA:306539|http://identifiers.org/omim/173650
MONDO:0021061	neurofibromatosis	biolink:Disease	mondo	ICD9:237.7|ICDO:9540/1|ICD10:Q85.02|ICD10:Q85.01|ICD10:Q85.00|UMLS:C0162678|DOID:8712|ICD9:237.70|GARD:0010420|ICD9:237.72|MESH:D017253|ICD9:237.71|NCIT:C6727|COHD:376938|SCTID:19133005		neurofibromatosis type 1|neurofibromatosis|central Neurofibromatosis|neurofibromatosis type 4|acoustic neurofibromatosis|neurofibromatosis type IV|neurofibromatosis type 2|von Reklinghausen disease|Neurofibromatosis 1|Recklinghausen's neurofibromatosis|peripheral Neurofibromatosis|neurofibromatosis syndrome|type IV neurofibromatosis of riccardi	http://purl.obolibrary.org/obo/MONDO_0021061	A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist.	SNOMEDCT:19133005|UMLS:C0162678|MESH:D017253|NCIT:C6727|DOID:8712
NCBITaxon:768	Anaplasma	organism taxon	mondo	PMID:11760958|GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_768		
MONDO:0021060	RASopathy	biolink:Disease	mondo	Orphanet:536391|EFO:1001502	ordo_group_of_disorders	disorder of Ras protein signal transduction|disorder of Ras protein signal transduction|Ras protein signal transduction disease	http://purl.obolibrary.org/obo/MONDO_0021060	The RASopathies are developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction.	ORPHA:536391
MONDO:0021069	malignant endocrine neoplasm	biolink:Disease	mondo	ICD10:C75.9|DOID:170|MESH:D004701|NCIT:C3575|ICD9:194.9		malignant endocrine gland tumor|endocrine neoplasm|endocrine gland cancer|malignant endocrine neoplasm|malignant endocrine tumor|neoplasm of endocrine gland|malignant endocrine gland neoplasm|malignant tumor of the endocrine gland|malignant tumor of endocrine gland|malignant tumour of endocrine gland|cancer of endocrine gland|endocrine cancer, NOS|neoplasm of endocrine system|endocrine cancer|endocrine neoplasm, malignant|malignant neoplasm of endocrine gland|Endocrine tumor|malignant neoplasm of the endocrine gland	http://purl.obolibrary.org/obo/MONDO_0021069	A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma.	MESH:D004701|NCIT:C3575|DOID:170
MONDO:0021068	ovarian neoplasm	biolink:Disease	mondo	NCIT:C4984|ICD9:239.5|SCTID:123843001|UMLS:CN236629		ovary neoplasm|ovarian tumor|neoplasm of ovary|ovary tumor|tumor of the ovary|ovarian neoplasm|ovary neoplasm (disease)|ovarian tumors|tumor of ovary|neoplasm of the ovary	http://purl.obolibrary.org/obo/MONDO_0021068	A benign, borderline, or malignant neoplasm involving the ovary.	NCIT:C4984|SNOMEDCT:123843001|UMLS:CN236629
MONDO:0021067	mediastinal germ cell tumor	biolink:Disease	mondo	NCIT:C6437|UMLS:C1334655		mediastinal germ cell tumor|germ cell neoplasm of the mediastinum|germ cell neoplasm of mediastinum|thymic germ cell tumor|mediastinal germ cell neoplasm|mediastinum germ cell tumor|germ cell tumor of the mediastinum|germ cell tumor of mediastinum	http://purl.obolibrary.org/obo/MONDO_0021067	A germ cell tumor that arises from the mediastinum. Representative examples include seminoma, embryonal carcinoma, yolk sac tumor, teratoma, and mixed germ cell tumor.	UMLS:C1334655|NCIT:C6437
NCBITaxon:766	Rickettsiales	organism taxon	mondo	PMID:11760958|GC_ID:11|PMID:8240958		alpha-1 proteobacteria|rickettsias	http://purl.obolibrary.org/obo/NCBITaxon_766		
MONDO:0021066	urinary system neoplasm	biolink:Disease	mondo	NCIT:C3431|ICD9:239.5|SCTID:126879004|ONCOTREE:BLADDER		neoplasm of the urinary tract|neoplasm of urinary tract|neoplasm of urinary system|urinary tract tumor|tumor of renal system|urinary system tumor|neoplasm of the urinary system|renal system neoplasm|tumor of the urinary tract|tumor of urinary tract|neoplasm of renal system|tumor of urinary system|renal system tumor|tumor of the urinary system|urinary system neoplasm|renal system neoplasm (disease)|urinary tract neoplasm	http://purl.obolibrary.org/obo/MONDO_0021066	A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003	NCIT:C3431|SNOMEDCT:126879004
MONDO:0021065	pleural neoplasm	biolink:Disease	mondo	NCIT:C3332|UMLS:C0032229|SCTID:126719004|ONCOTREE:PLEURA		pleura neoplasm (disease)|neoplasm of the pleura|pleural neoplasm|neoplasm of pleura|tumor of the pleura|pleura tumor|pleura neoplasm|pleural cavity neoplasm (disease)|pleural tumor|neoplasm of pleural cavity|pleural cavity tumor|tumor of pleura	http://purl.obolibrary.org/obo/MONDO_0021065	A benign or malignant neoplasm that involves the serous membrane that lines the lungs and thoracic cavity. Most pleural neoplasms are metastatic. Diffuse malignant mesothelioma is the most common primary malignant neoplasm of the pleura.	SNOMEDCT:126719004|UMLS:C0032229|NCIT:C3332
HP:0002524	Cataplexy	biolink:PhenotypicFeature	mondo	MSH:D002385|SNOMEDCT_US:46263000|UMLS:C0007384			http://purl.obolibrary.org/obo/HP_0002524	A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions.	
FOODON:00001785	crab food product	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00001785		
MONDO:0045020	glycine metabolism disease	biolink:Disease	mondo	UMLS:C0268558|SCTID:83076007		disorder of glycine metabolic process|disorder of glycine metabolic process|glycine metabolism disease|disorder of glycine metabolism|glycine metabolic process disease	http://purl.obolibrary.org/obo/MONDO_0045020	A disease that has its basis in the disruption of glycine metabolic process.	UMLS:C0268558|SNOMEDCT:83076007
GO:0030857	negative regulation of epithelial cell differentiation	biolink:OntologyClass	mondo			inhibition of epithelial cell differentiation|downregulation of epithelial cell differentiation|down-regulation of epithelial cell differentiation|down regulation of epithelial cell differentiation	http://purl.obolibrary.org/obo/GO_0030857	Any process that stops, prevents, or reduces the frequency, rate or extent of epithelial cell differentiation.	
GO:0030858	positive regulation of epithelial cell differentiation	biolink:OntologyClass	mondo			up-regulation of epithelial cell differentiation|up regulation of epithelial cell differentiation|activation of epithelial cell differentiation|stimulation of epithelial cell differentiation|upregulation of epithelial cell differentiation	http://purl.obolibrary.org/obo/GO_0030858	Any process that activates or increases the frequency, rate or extent of epithelial cell differentiation.	
MONDO:0045022	disorder of organic acid metabolism	biolink:Disease	mondo	ICD9:277.89|SCTID:116021002		organic acid metabolic process disease|disorder of organic acid metabolism|organic acid metabolism disorder|disorder of organic acid metabolic process|disorder of organic acid metabolic process	http://purl.obolibrary.org/obo/MONDO_0045022	A disease that has its basis in the disruption of organic acid metabolic process.	SNOMEDCT:116021002
GO:0030855	epithelial cell differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0030855	The process in which a relatively unspecialized cell acquires specialized features of an epithelial cell, any of the cells making up an epithelium.	
NCBITaxon:779	Ehrlichia ruminantium	organism taxon	mondo	PMID:11414267|PMID:11760958|GC_ID:11|PMID:1581187|PMID:1380292		Cowdria ruminantium|heartwater rickettsia|Rickettsia ruminantium|Nicollea ruminantium|Kurlovia ruminantium	http://purl.obolibrary.org/obo/NCBITaxon_779		
GO:0030856	regulation of epithelial cell differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0030856	Any process that modulates the frequency, rate or extent of epithelial cell differentiation.	
MONDO:0045021	obsolete sucrose intolerance disease	biolink:Disease	mondo	ICD9:271.3|SCTID:190753003		sucrose intolerance	http://purl.obolibrary.org/obo/MONDO_0045021		SNOMEDCT:190753003
GO:0030853	negative regulation of granulocyte differentiation	biolink:OntologyClass	mondo			inhibition of granulocyte differentiation|downregulation of granulocyte differentiation|down-regulation of granulocyte differentiation|down regulation of granulocyte differentiation	http://purl.obolibrary.org/obo/GO_0030853	Any process that stops, prevents, or reduces the frequency, rate or extent of granulocyte differentiation.	
GO:0030854	positive regulation of granulocyte differentiation	biolink:OntologyClass	mondo			up-regulation of granulocyte differentiation|up regulation of granulocyte differentiation|activation of granulocyte differentiation|stimulation of granulocyte differentiation|upregulation of granulocyte differentiation	http://purl.obolibrary.org/obo/GO_0030854	Any process that activates or increases the frequency, rate or extent of granulocyte differentiation.	
GO:0030851	granulocyte differentiation	biolink:OntologyClass	mondo			granulocyte cell differentiation	http://purl.obolibrary.org/obo/GO_0030851	The process in which a myeloid precursor cell acquires the specialized features of a granulocyte. Granulocytes are a class of leukocytes characterized by the presence of granules in their cytoplasm. These cells are active in allergic immune reactions such as arthritic inflammation and rashes. This class includes basophils, eosinophils and neutrophils.	
GO:0030852	regulation of granulocyte differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0030852	Any process that modulates the frequency, rate or extent of granulocyte differentiation.	
MONDO:0060659	neurodevelopmental disorder with poor language and loss of hand skills	biolink:Disease	mondo	OMIM:617903		neurodevelopmental disorder with poor language and loss of hand skills; NDPLHS|NDPLHS	http://purl.obolibrary.org/obo/MONDO_0060659		http://identifiers.org/omim/617903
NCBITaxon:774	Bartonella bacilliformis	organism taxon	mondo	GC_ID:11		Bartonia bacilliformis	http://purl.obolibrary.org/obo/NCBITaxon_774		
MONDO:0045028	radiation or chemically induced disorder	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0045028	A disease or disorder that is induced by either chemical or radiation exposure.	
UBERON:0009906	root of optic nerve	biolink:AnatomicalEntity	mondo			optic tract root|optic nerve root|root of optic tract	http://purl.obolibrary.org/obo/UBERON_0009906	A nerve root that extends_fibers_into a nerve connecting eye with brain.	
NCBITaxon:773	Bartonella	organism taxon	mondo	PMID:8863415|PMID:11837299|PMID:12508871|PMID:10425758|PMID:8240958|PMID:7857789|GC_ID:11		"Bartonia" Strong et al. 1913|Rocha-Limae|Grahmia|Rochalimaea|Grahamella	http://purl.obolibrary.org/obo/NCBITaxon_773		
MONDO:0045027		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0045027		
NCBITaxon:772	Bartonellaceae	organism taxon	mondo	PMID:8240958|GC_ID:11		Bartonella group	http://purl.obolibrary.org/obo/NCBITaxon_772		
MONDO:0045029	obsolete Deuteromycetes infectious disease	biolink:Disease	mondo	SCTID:59258008		infection by Deuteromycetes|infection caused by Deuteromycetes	http://purl.obolibrary.org/obo/MONDO_0045029		SNOMEDCT:59258008
MONDO:0045024	cell proliferation disorder	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0045024	Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions.	
NCBITaxon:777	Coxiella burnetii	organism taxon	mondo	GC_ID:11|PMID:9226923		Rickettsia diaporica|Rickettsia burneti	http://purl.obolibrary.org/obo/NCBITaxon_777		
MONDO:0045023	acquired adrenogenital syndrome	biolink:Disease	mondo	UMLS:C0237971|SCTID:190512008		acquired adrenogenital syndrome	http://purl.obolibrary.org/obo/MONDO_0045023	An instance of adrenogenital syndrome that is acquired during the lifetime of the individual.	SNOMEDCT:190512008|UMLS:C0237971
NCBITaxon:776	Coxiella <g-proteobacteria>	organism taxon	mondo	GC_ID:11		Burnetia|Coxiella	http://purl.obolibrary.org/obo/NCBITaxon_776		
NCBITaxon:775	Rickettsiaceae	organism taxon	mondo	GC_ID:11|PMID:8240958|PMID:2592342|PMID:11760958			http://purl.obolibrary.org/obo/NCBITaxon_775		
MONDO:0033043	spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	biolink:Disease	mondo	Orphanet:527497|OMIM:617560|DOID:0080252|UMLS:C4479653	ordo_disease	spastic ataxia 8|spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy; SPAX8|SPAX8	http://purl.obolibrary.org/obo/MONDO_0033043		DOID:0080252|ORPHA:527497|UMLS:C4479653|http://identifiers.org/omim/617560
HP:0002573	Hematochezia	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:236068001|SNOMEDCT_US:405729008|UMLS:C0018932|MSH:D006471		Rectal bleeding|Recurrent rectal bleeding	http://purl.obolibrary.org/obo/HP_0002573	The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.	
UBERON:0009911	lobule	biolink:AnatomicalEntity	mondo			lobulus	http://purl.obolibrary.org/obo/UBERON_0009911		
UBERON:0009912	anatomical lobe	biolink:AnatomicalEntity	mondo			lobus	http://purl.obolibrary.org/obo/UBERON_0009912	A portion of an organ, such as the liver, lung, breast, or brain.	
FOODON:00001792	crustacean food product	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00001792		
UBERON:0009913	renal lobe	biolink:AnatomicalEntity	mondo			lobus renalis|lobi renalis|lobi renales|kidney lobe	http://purl.obolibrary.org/obo/UBERON_0009913	The portion of a kidney consisting of a renal medullary pyramid and the renal cortex above it[MP]. It is composed of many renal lobules[WP].	
UBERON:0009914	renal lobule	biolink:AnatomicalEntity	mondo			renunculus|lobuli corticales renis|renal cortical lobule|cortical lobule of kidney|renculus|cortical lobule|reniculus|lobulus renalis|lobulus corticalis renalis|kidney lobule	http://purl.obolibrary.org/obo/UBERON_0009914	The portion of a renal lobe consisting of nephrons grouped around a single medullary ray and draining into a single collecting duct; human kidneys have multilobular, multipapillary architecture while mice and rats have unilobular, unipapillary kidneys	
HP:0002577	Abnormal stomach morphology	biolink:PhenotypicFeature	mondo	UMLS:C4025699		Abnormality of the stomach	http://purl.obolibrary.org/obo/HP_0002577	An abnormality of the stomach.	
UBERON:0009916	wall of ureter	biolink:AnatomicalEntity	mondo			ureteral wall	http://purl.obolibrary.org/obo/UBERON_0009916	An anatomical wall that is part of a ureter.	
MONDO:0033046	Meier-Gorlin syndrome 8	biolink:Disease	mondo	UMLS:C4479655|DOID:0080255|OMIM:617564		MGORS8|Meier-Gorlin syndrome 8; MGORS8	http://purl.obolibrary.org/obo/MONDO_0033046		DOID:0080255|UMLS:C4479655|http://identifiers.org/omim/617564
HGNC:10274	RP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10274		
MONDO:0033047	Perrault syndrome 6	biolink:Disease	mondo	UMLS:C4479656|DOID:0080256|OMIM:617565		Perrault syndrome 6; PRLTS6|PRLTS6	http://purl.obolibrary.org/obo/MONDO_0033047		DOID:0080256|UMLS:C4479656|http://identifiers.org/omim/617565
MONDO:0033044	Meckel syndrome 13	biolink:Disease	mondo	DOID:0080276|DOID:0080253|OMIM:617562		Joubert syndrome 29|Meckel syndrome 13; MKS13|MKS13|Meckel syndrome, type 13	http://purl.obolibrary.org/obo/MONDO_0033044		DOID:0080253|DOID:0080276|http://identifiers.org/omim/617562
MONDO:0033045	orofaciodigital syndrome 16	biolink:Disease	mondo	DOID:0080254|UMLS:CN317535|OMIM:617563		orofaciodigital syndrome XVI; OFD16|OFD16|orofaciodigital syndrome XVI|Ofds 16|oral-Facial-digital syndrome, type 16	http://purl.obolibrary.org/obo/MONDO_0033045		DOID:0080254|UMLS:CN317535|http://identifiers.org/omim/617563
MONDO:0045031	infectious diarrheal disease	biolink:Disease	mondo	SCTID:19213003		infective diarrhea|infectious diarrhea|infectious diarrheal disease	http://purl.obolibrary.org/obo/MONDO_0045031		SNOMEDCT:19213003
MONDO:0045030	non-infectious diarrheal disease	biolink:Disease	mondo	SCTID:69980003|UMLS:C0267436		presumed non-infectious diarrhea|non-infective diarrhea	http://purl.obolibrary.org/obo/MONDO_0045030		UMLS:C0267436|SNOMEDCT:69980003
MONDO:0045033	opportunistic systemic mycosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0045033	A mycosis that arises from infection in an immunologically compromised host and is systemic.	
MONDO:0045032	congenital secretory diarrhea	biolink:Disease	mondo	UMLS:C0267661|ICD9:579.8|SCTID:25898005		congenital secretory diarrhea	http://purl.obolibrary.org/obo/MONDO_0045032		SNOMEDCT:25898005|UMLS:C0267661
MONDO:0060649	short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	biolink:Disease	mondo	UMLS:CN807949|OMIM:617877		SSFSC|short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies; SSFSC	http://purl.obolibrary.org/obo/MONDO_0060649		UMLS:CN807949|http://identifiers.org/omim/617877
MONDO:0045039	systemic basidiobolomycosis	biolink:Disease	mondo	SCTID:240787008|UMLS:C0343967		disseminated basidiobolomycosis	http://purl.obolibrary.org/obo/MONDO_0045039		UMLS:C0343967|SNOMEDCT:240787008
NCBITaxon:785	Rickettsia typhi	organism taxon	mondo	GC_ID:11		Dermacentroxenus typhi|Rickettsia mooseri	http://purl.obolibrary.org/obo/NCBITaxon_785		
NCBITaxon:784	Orientia tsutsugamushi	organism taxon	mondo	PMID:1906730|PMID:8590688|GC_ID:11		Rickettsia tsutsugamushi|Rickettsia orientalis|Rickettsia akamushi|Theileria tsutsugamushi	http://purl.obolibrary.org/obo/NCBITaxon_784		
MONDO:0045038	cutaneous basidiobolomycosis	biolink:Disease	mondo	SCTID:240786004|UMLS:C0343966			http://purl.obolibrary.org/obo/MONDO_0045038		UMLS:C0343966|SNOMEDCT:240786004
NCBITaxon:136841	Pseudomonas aeruginosa group	organism taxon	mondo	GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_136841		
NCBITaxon:783	Rickettsia rickettsii	organism taxon	mondo	GC_ID:11		Dermacentroxenus rickettsii	http://purl.obolibrary.org/obo/NCBITaxon_783		
NCBITaxon:782	Rickettsia prowazekii	organism taxon	mondo	PMID:15879256|GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_782		
MONDO:0045035	opportunistic infectious	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0045035	A characteristic of an infectious disease in which the disease affects an immunologically compromised host.	
MONDO:0060642	neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	biolink:Disease	mondo	OMIM:617865|UMLS:CN800196		NEDMAGA|neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features; NEDMAGA	http://purl.obolibrary.org/obo/MONDO_0060642		UMLS:CN800196|http://identifiers.org/omim/617865
MONDO:0045034	infectious disease characteristic	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0045034		
NCBITaxon:787	Rickettsia australis	organism taxon	mondo	PMID:11034486|GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_787		
MONDO:0045037	hyalohyphomycosis	biolink:Disease	mondo	UMLS:C0343952|MESH:D060605|SCTID:240773008		hyalohyphomycosis	http://purl.obolibrary.org/obo/MONDO_0045037	An opportunistic infection caused by a heterogeneous group of mitosporic fungi with clear (hyalo-) hyphae in the host. Common causative agents include acremonium; aspergillus; chrysosporium; fusarium; paecilomyces; penicillium; pseudallescheria; scedosporium; and scopulariopsis. Normally a dermatomycoses, it can become invasive in the immunocompromised host.	MESH:D060605|UMLS:C0343952|SNOMEDCT:240773008
MONDO:0060641	neurodevelopmental disorder with or without seizures and gait abnormalities	biolink:Disease	mondo	OMIM:617864|UMLS:CN800195		neurodevelopmental disorder with or without seizures and gait abnormalities; NEDSGA|NEDSGA	http://purl.obolibrary.org/obo/MONDO_0060641		UMLS:CN800195|http://identifiers.org/omim/617864
NCBITaxon:786	Rickettsia akari	organism taxon	mondo	GC_ID:11		Dermacentroxenus murinus|rickettsialpox|agent of rickettsialpox|Gamasoxenus muris	http://purl.obolibrary.org/obo/NCBITaxon_786		
MONDO:0045036	primary infectious	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0045036	A characteristic of an infectious disease in which the disease affects an immunologically normal host.	
GO:0030849	autosome	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0030849	Any chromosome other than a sex chromosome.	
MONDO:0060640	neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy	biolink:Disease	mondo	OMIM:617862|UMLS:CN787271		NEDMEBA|neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy; NEDMEBA	http://purl.obolibrary.org/obo/MONDO_0060640		http://identifiers.org/omim/617862|UMLS:CN787271
MONDO:0060650	Leber congenital amaurosis with early-onset deafness	biolink:Disease	mondo	OMIM:617879|UMLS:CN807950		LCAEOD|Leber congenital amaurosis with early-onset deafness; LCAEOD	http://purl.obolibrary.org/obo/MONDO_0060650		http://identifiers.org/omim/617879|UMLS:CN807950
HP:0002584	Intestinal bleeding	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:712510007|UMLS:C0267373		Intestinal hemorrhage|Intestinal bleeding	http://purl.obolibrary.org/obo/HP_0002584	Bleeding from the intestines.	
HGNC:10288	RP9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10288		
NCBITaxon:781	Rickettsia conorii	organism taxon	mondo	PMID:15766388|PMID:15879256|GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_781		
NCBITaxon:780	Rickettsia	organism taxon	mondo	PMID:9103608|PMID:14662925|PMID:10939649|GC_ID:11|PMID:11491333			http://purl.obolibrary.org/obo/NCBITaxon_780		
MONDO:0045042	restricted to specific location	biolink:Disease	mondo			localized	http://purl.obolibrary.org/obo/MONDO_0045042		
MONDO:0045044	ligament disease	biolink:Disease	mondo	SCTID:60492000|UMLS:C0263976		ligament disease or disorder|disorder of ligament|disease of ligament|disorder of ligament|disease or disorder of ligament	http://purl.obolibrary.org/obo/MONDO_0045044	A disease or disorder that involves the ligament.	UMLS:C0263976|SNOMEDCT:60492000
MONDO:0045043	disease of uterine broad ligament	biolink:Disease	mondo	UMLS:C0404479|SCTID:237062006		broad ligament of uterus disease or disorder|broad ligament of uterus disease|disorder of broad ligament of uterus|disorder of broad ligament|disease of broad ligament of uterus|disease or disorder of broad ligament of uterus|disorder of broad ligament of uterus	http://purl.obolibrary.org/obo/MONDO_0045043	A disease or disorder that involves the broad ligament of uterus.	UMLS:C0404479|SNOMEDCT:237062006
OBO:mondo#disease_shares_features_of	disease shares features of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/mondo#disease_shares_features_of		
MONDO:0045040	locational disease characteristic	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0045040		
MONDO:0045049	hypermature cataract	biolink:Disease	mondo	ICD9:366.18|SCTID:267626000		hypermature cataract	http://purl.obolibrary.org/obo/MONDO_0045049		SNOMEDCT:267626000
MONDO:0060677	chromosome 1p35 deletion syndrome	biolink:Disease	mondo	UMLS:CN244562|OMIM:617930		chromosome 1p35 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0060677		http://identifiers.org/omim/617930|UMLS:CN244562
MONDO:0045046	inherited thyroid metabolism disease	biolink:Disease	mondo	ICD9:246.8|UMLS:C0271824|SCTID:36985004		inborn thyroid hormone metabolic process disorder|rare inborn error of thyroid hormone metabolic process|inborn error of thyroid hormone metabolic process|inherited disorder of thyroid metabolism|rare inborn error of thyroid hormone metabolic process	http://purl.obolibrary.org/obo/MONDO_0045046	An acquired metabolic disease that is has its basis in the disruption of thyroid hormone metabolic process.	UMLS:C0271824|SNOMEDCT:36985004
MONDO:0045045	selective IgG immunodeficiency	biolink:Disease	mondo	UMLS:C0162539|SCTID:12631000119106|NCIT:C27142|GARD:0010371		selective IgG immunodeficiency|IgG deficiency|IgG subclass deficiency	http://purl.obolibrary.org/obo/MONDO_0045045	A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of immunoglobulin class G (IgG). Deficiencies of IgG present variably according to subclass. IgG deficiencies are typically relative among subclasses and not absolute. Thus even with a given selective IgG subclass deficiency, total IgG levels may still fall within normal range. The clinical course and prognosis is dependent upon the severity of the deficiency and associated morbidity.	UMLS:C0162539|SNOMEDCT:12631000119106|NCIT:C27142
MONDO:0045048	toxemia of pregnancy	biolink:Disease	mondo	NCIT:C34943		toxemia of pregnancy	http://purl.obolibrary.org/obo/MONDO_0045048	A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria.	NCIT:C34943
HGNC:24891	DCAF8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24891		
MONDO:0045047	neurosarcoidosis	biolink:Disease	mondo	MESH:C535814|SCTID:230193008|UMLS:C0393485		sarcoidosis of nervous system|neurosarcoidosis|nervous system sarcoidosis	http://purl.obolibrary.org/obo/MONDO_0045047	A sarcoidosis that involves the nervous system.	MESH:C535814|SNOMEDCT:230193008|UMLS:C0393485
HGNC:10257	ROR2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10257		
HGNC:10254	ROM1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10254		
HGNC:10250	ROBO2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10250		
MONDO:0045053	osteogenic neoplasm	biolink:Disease	mondo	NCIT:C6603		osteogenic neoplasm|osseous tumor|osseous neoplasm|osteogenic tumor	http://purl.obolibrary.org/obo/MONDO_0045053	A benign, intermediate, or malignant bone-forming neoplasm. Representative examples include osteoma, osteoblastoma, and osteosarcoma.	NCIT:C6603
MONDO:0045052	benign osteogenic neoplasm	biolink:Disease	mondo	NCIT:C6602		benign osteogenic tumor|osteogenic neoplasm, benign|benign osteogenic neoplasm|benign osseous neoplasm|benign osseous tumor	http://purl.obolibrary.org/obo/MONDO_0045052	A non-metastasizing bone-forming neoplasm. This category includes osteoma, osteoid osteoma, and osteoblastoma.	NCIT:C6602
MONDO:0045055	glycogen-rich carcinoma	biolink:Disease	mondo	NCIT:C4153		Glycogen-rich carcinoma	http://purl.obolibrary.org/obo/MONDO_0045055	A carcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. A representative example is the glycogen-rich, clear cell breast carcinoma.	NCIT:C4153
MONDO:0045054	cancer-related condition	biolink:Disease	mondo	NCIT:C8278|UMLS:C0280950		cancer-related problem or condition|problem/condition, cancer-related|problem/condition, cancer related|cancer-related condition|oncologic complications|cancer related problem/condition	http://purl.obolibrary.org/obo/MONDO_0045054	A disorder either associated with an increased risk for malignant transformation (e.g., intraepithelial neoplasia, leukoplakia, dysplastic nevus, myelodysplastic syndrome) or that develops as a result of the presence of an existing malignant neoplasm (e.g., paraneoplastic syndrome).	NCIT:C8278|UMLS:C0280950
GO:0005886	plasma membrane	biolink:OntologyClass	mondo			plasma membrane lipid bilayer|bacterial inner membrane|cytoplasmic membrane|cellular membrane|plasmalemma|juxtamembrane|inner endospore membrane|cell membrane	http://purl.obolibrary.org/obo/GO_0005886	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.	
GO:0005887	integral component of plasma membrane	biolink:OntologyClass	mondo			integral to plasma membrane	http://purl.obolibrary.org/obo/GO_0005887	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.	
MONDO:0045051	cortical cataract	biolink:Disease	mondo	ICD9:366.03|SCTID:193576003		lens cortex cataract (disease)|cataract (disease) of lens cortex	http://purl.obolibrary.org/obo/MONDO_0045051	A cataract (disease) that involves the lens cortex.	SNOMEDCT:193576003
MONDO:0045050	nuclear cataract	biolink:Disease	mondo	ICD9:366.04|HP:0100018|SCTID:53889007		cataract (disease) of lens nucleus|lens nucleus cataract (disease)	http://purl.obolibrary.org/obo/MONDO_0045050	A cataract (disease) that involves the lens nucleus.	SNOMEDCT:53889007
MONDO:0060666	hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	biolink:Disease	mondo	OMIM:617915|UMLS:CN895589		HADDTS|hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome; HADDTS	http://purl.obolibrary.org/obo/MONDO_0060666		http://identifiers.org/omim/617915|UMLS:CN895589
MONDO:0045057	delirium	biolink:Disease	mondo	MESH:D003693|SCTID:2776000|UMLS:C0011206|EFO:0009267|ICD9:293.0		OBS syndrome|organic brain syndrome	http://purl.obolibrary.org/obo/MONDO_0045057	A disorder characterized by confusion; inattentiveness; disorientation; illusions; hallucinations; agitation; and in some instances autonomic nervous system overactivity. It may result from toxic/metabolic conditions or structural brain lesions. (From Adams et al., Principles of Neurology, 6th ed, pp411-2)	UMLS:C0011206|SNOMEDCT:2776000|MESH:D003693
MONDO:0045056	grade II meningioma	biolink:Disease	mondo	UMLS:C1512259|NCIT:C38937		grade 2 meningioma|grade II meningioma|WHO grade II meningioma	http://purl.obolibrary.org/obo/MONDO_0045056	An atypical meningioma which may recur in approximately 29-40% of the cases. This category includes the atypical meningioma, chordoid meningioma, and clear cell meningioma.	UMLS:C1512259|NCIT:C38937
MONDO:0060664	neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	biolink:Disease	mondo	UMLS:CN889218|OMIM:617913		NEDMCR|neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities; NEDMCR	http://purl.obolibrary.org/obo/MONDO_0060664		http://identifiers.org/omim/617913|UMLS:CN889218
MONDO:0060663	congenital heart defects, multiple types, 5	biolink:Disease	mondo	OMIM:617912|UMLS:CN873437		CHTD5|CONGENITAL heart defects, multiple types, 5; CHTD5	http://purl.obolibrary.org/obo/MONDO_0060663		UMLS:CN873437|http://identifiers.org/omim/617912
MONDO:0045059	cribriform carcinoma of breast	biolink:Disease	mondo	DOID:5675		cribriform carcinoma|ductal carcinoma, cribriform type	http://purl.obolibrary.org/obo/MONDO_0045059		DOID:5675
MONDO:0060662	Diamond-Blackfan anemia-like	biolink:Disease	mondo	OMIM:617911|UMLS:CN873436		Diamond-Blackfan anemia-like; DBAL|DBAL	http://purl.obolibrary.org/obo/MONDO_0060662		UMLS:CN873436|http://identifiers.org/omim/617911
MONDO:0045058	ACTH-producing pituitary gland neoplasm	biolink:Disease	mondo	UMLS:C0278862|NCIT:C7909		adrenocorticotropin secreting tumor of the pituitary|adrenocorticotropin secreting tumor of pituitary|corticotropin secreting pituitary gland neoplasm|adrenocorticotropin producing pituitary gland tumor|ACTH-secreting tumor of the pituitary|ACTH-secreting tumor of pituitary|pituitary corticotropin secreting tumor|ACTH producing pituitary gland neoplasm|ACTH-producing pituitary neoplasm|ACTH-producing pituitary gland neoplasm|adrenocorticotropin secreting neoplasm of the pituitary|adrenocorticotropin secreting pituitary gland tumor|adrenocorticotropin secreting neoplasm of pituitary|ACTH-producing pituitary tumor|pituitary corticotropin secreting neoplasm	http://purl.obolibrary.org/obo/MONDO_0045058	An adenoma or carcinoma of the pituitary gland that produces corticotropin.	UMLS:C0278862|NCIT:C7909
MONDO:0060671	epilepsy, juvenile myoclonic, susceptibility to, 10	biolink:Disease	mondo	DOID:0111325|OMIM:617924	predisposition	EJM10|epilepsy, juvenile myoclonic, susceptibility to, 10; EJM10	http://purl.obolibrary.org/obo/MONDO_0060671		http://identifiers.org/omim/617924|DOID:0111325
MONDO:0060670	amyotrophic lateral sclerosis, susceptibility to, 25	biolink:Disease	mondo	UMLS:CN895594|OMIM:617921	predisposition	amyotrophic lateral sclerosis, susceptibility to, 25; ALS25|ALS25	http://purl.obolibrary.org/obo/MONDO_0060670		http://identifiers.org/omim/617921|UMLS:CN895594
HGNC:10260	RORC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10260		
HGNC:10263	RP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10263		
MONDO:0023551	C1q nephropathy	biolink:Disease	mondo	UMLS:C0403434|GARD:0012136|SCTID:236412002	gard_rare	C1q nephropathy	http://purl.obolibrary.org/obo/MONDO_0023551	C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome.	SNOMEDCT:236412002|UMLS:C0403434
MONDO:0023554	acquired testicular failure	biolink:Disease	mondo	NCIT:C131091|UMLS:C0403818|SCTID:236811002		Acquired Testicular Failure|acquired testicular failure|Acquired testicular failure	http://purl.obolibrary.org/obo/MONDO_0023554	Testicular failure, the cause of which is not present at birth.	SNOMEDCT:236811002|UMLS:C0403818|NCIT:C131091
MONDO:0023557	infective vaginitis	biolink:Disease	mondo	NCIT:C84353|SCTID:237091009|UMLS:C0404521		PV - Vaginal infection|Vaginal infection|vaginal infection|Infective vaginitis|Vaginal Infection	http://purl.obolibrary.org/obo/MONDO_0023557	An infectious process affecting the vagina. Symptoms include pain and purulent discharge.	NCIT:C84353|SNOMEDCT:237091009|UMLS:C0404521
MONDO:0023558	Kocher-debre-Semelaigne syndrome	biolink:Disease	mondo	MESH:C537211|GARD:0008270	gard_rare	association of muscular pseudohypertrophy and hypothyroidism in children|Kocher debre Semelaigne disease	http://purl.obolibrary.org/obo/MONDO_0023558		MESH:C537211
MONDO:0011569	Charcot-Marie-Tooth disease type 2B1	biolink:Disease	mondo	ICD10:G60.0|GARD:0008548|OMIM:605588|MESH:C537990|DOID:0110156|SCTID:725048002|Orphanet:98856|UMLS:C1854154	ordo_disease|gard_rare	LMNA Charcot-Marie-Tooth disease type 2|AR-CMT2B1|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B1|Charcot-Marie-Tooth disease, axonal, type 2B1|autosomal recessive axonal CMT4C1|Charcot-Marie-Tooth neuropathy, type 2B1|autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1|autosomal recessive Charcot-Marie-Tooth disease type 2B1|Charcot-Marie-Tooth disease neuronal type 2B1|Charcot-Marie-Tooth disease, axonal, autosomal recessive, 2B1|Charcot-Marie-Tooth disease type 2 caused by mutation in LMNA|CMT 2B1|Charcot Marie Tooth disease type 2B1|CMT2B1|Charcot-Marie-Tooth disease, neuronal, type 2B1|Charcot-Marie-Tooth disease, axonal, type 2B1; CMT2B1|Charcot-Marie-Tooth neuropathy type 2B1	http://purl.obolibrary.org/obo/MONDO_0011569	Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy.	UMLS:C1854154|DOID:0110156|http://identifiers.org/omim/605588|SNOMEDCT:725048002|MESH:C537990|ORPHA:98856
MONDO:0011573	PSORS7	biolink:Disease	mondo	DOID:0111279|OMIM:605606		PSORS7|psoriasis 7, susceptibility to; PSORS7|psoriasis 7, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0011573		DOID:0111279|http://identifiers.org/omim/605606
MONDO:0011572	type 1 diabetes mellitus 18	biolink:Disease	mondo	MESH:C565315|ICD10:E10|OMIM:605598|DOID:0110755|UMLS:C1854125		diabetes mellitus, insulin-dependent, 18; IDDM18|IDDM18|diabetes mellitus, insulin-dependent, 18|insulin-dependent diabetes mellitus 18	http://purl.obolibrary.org/obo/MONDO_0011572	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 5q31.1-q33.1.	MESH:C565315|UMLS:C1854125|http://identifiers.org/omim/605598|DOID:0110755
HGNC:3087	DVL3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3087		
MONDO:0011575	cerebrooculonasal syndrome	biolink:Disease	mondo	Orphanet:66625|UMLS:C1854108|GARD:0003480|OMIM:605627|ICD10:Q87.0|MESH:C565313|SCTID:720855003	gard_rare|ordo_malformation_syndrome	cerebrooculonasal syndrome	http://purl.obolibrary.org/obo/MONDO_0011575	Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay.	ORPHA:66625|MESH:C565313|UMLS:C1854108|http://identifiers.org/omim/605627|SNOMEDCT:720855003
MONDO:0011574	tetralogy of fallot syndrome, autosomal recessive	biolink:Disease	mondo	UMLS:C1854119|OMIM:605618|MESH:C565314		tetralogy of fallot syndrome, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0011574		MESH:C565314|UMLS:C1854119|http://identifiers.org/omim/605618
MONDO:0011577	myopathy, proximal, and ophthalmoplegia	biolink:Disease	mondo	UMLS:C1854106|OMIM:605637|MESH:C565311		inclusion body myopathy 3, autosomal dominant|myopathy, proximal, and ophthalmoplegia|myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles|MYOPATHY, proximal, and ophthalmoplegia; MYPOP|MYPOP|inclusion body myopathy 3, autosomal dominant, formerly	http://purl.obolibrary.org/obo/MONDO_0011577		MESH:C565311|UMLS:C1854106|http://identifiers.org/omim/605637
HGNC:3084	DVL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3084		
MONDO:0011576	familial hyperaldosteronism type II	biolink:Disease	mondo	NCIT:C127162|UMLS:C3839212|Orphanet:404|OMIM:605635|UMLS:C1854107|MESH:C565312|SCTID:703233008|ICD10:E26.0|GARD:0002789	ordo_disease	HALD2|hyperaldosteronism, familial, type II; HALD2|FH-II|familial adrenal adenoma|familial hyperaldosteronism type 2|hyperaldosteronism, familial, type II|FH2|FHII|FH 2	http://purl.obolibrary.org/obo/MONDO_0011576	Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism.	ORPHA:404|MESH:C565312|NCIT:C127162|UMLS:C3839212|UMLS:C1854107|SNOMEDCT:703233008|http://identifiers.org/omim/605635
MONDO:0011579	late-onset retinal degeneration	biolink:Disease	mondo	UMLS:C1854065|MESH:C565309|GARD:0004357|DOID:0060869|OMIM:605670|SCTID:719431007|Orphanet:67042	ordo_disease	late-onset retinal degeneration|late-onset retinal degeneration; LORD|LORD|pigmentary retinopathy|retinal Degeneration, late-onset, autosomal dominant|autosomal dominant late-onset retinal degeneration	http://purl.obolibrary.org/obo/MONDO_0011579	Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.	http://identifiers.org/omim/605670|DOID:0060869|SNOMEDCT:719431007|MESH:C565309|ORPHA:67042|UMLS:C1854065
MONDO:0011578	familial papillary thyroid carcinoma with renal papillary neoplasia	biolink:Disease	mondo	SCTID:717734005|UMLS:C1854104|Orphanet:97290|ICD10:C64|OMIM:605642|ICD10:C73|MESH:C565310	ordo_disease	Ptcprn|thyroid carcinoma, papillary, with papillary renal neoplasia|Prn1|ptc-RCC	http://purl.obolibrary.org/obo/MONDO_0011578	Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC).	http://identifiers.org/omim/605642|SNOMEDCT:717734005|MESH:C565310|ORPHA:97290|UMLS:C1854104
MONDO:0011571	deafness, autosomal dominant 39, with dentinogenesis imperfecta 1	biolink:Disease	mondo	OMIM:605594|MESH:C565316|UMLS:C1854146		deafness, autosomal dominant 39, with dentinogenesis imperfecta 1|deafness, autosomal dominant 39, with dentinogenesis imperfecta type 1|Dgi1/Dfna39 syndrome|Dfna39/Dgi1 syndrome|Dfna39/dentinogenesis imperfecta 1 syndrome	http://purl.obolibrary.org/obo/MONDO_0011571		MESH:C565316|UMLS:C1854146|http://identifiers.org/omim/605594
MONDO:0011570	Charcot-Marie-Tooth disease type 2B2	biolink:Disease	mondo	ICD10:G60.0|GARD:0001249|SCTID:719981005|Orphanet:101101|UMLS:C1854150|OMIM:605589|MESH:C537991|DOID:0110179	ordo_disease|gard_rare	CMT2B2|Charcot-Marie-Tooth disease neuronal type 2B2|Charcot-Marie-Tooth disease, axonal, type 2B2|MED25 Charcot-Marie-Tooth disease type 2|Arcmt2B|ARCMT2B|Charcot-Marie-Tooth disease, axonal, type 2B2; CMT2B2|Charcot-Marie-Tooth disease, neuronal, type 2B2|Charcot Marie Tooth disease type 2B2|CMT 2B2|Charcot-Marie-Tooth neuropathy type 2B2|autosomal recessive axonal CMT4C3|Charcot-Marie-Tooth disease type 2 caused by mutation in MED25|autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B2|AR-CMT2B2|Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2|Charcot-Marie-Tooth neuropathy, type 2B2	http://purl.obolibrary.org/obo/MONDO_0011570	Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry.	MESH:C537991|DOID:0110179|UMLS:C1854150|http://identifiers.org/omim/605589|ORPHA:101101|SNOMEDCT:719981005
MONDO:0023540	Kashani-Strom-Utley syndrome	biolink:Disease	mondo	MESH:C537010|GARD:0000191|UMLS:C2931392|Orphanet:1137	gard_rare	pulmonary aortic stenosis obstructive uropathy|Kashani Strom Utley syndrome|hypoplastic pulmonary arteries and aorta with obstructive uropathy	http://purl.obolibrary.org/obo/MONDO_0023540		UMLS:C2931392|MESH:C537010|ORPHA:1137
MONDO:0023541	Kasznica-Carlson-Coppedge syndrome	biolink:Disease	mondo	MESH:C537011|UMLS:C2931393|GARD:0003080	gard_rare	ectrodactyly, retrognathism, abnormal ears, highly arched palate, spina bifida, congenital heart defect, single umbilical artery|ectrodactyly spina bifida cardiopathy|Kasznica Carlson Coppedge syndrome	http://purl.obolibrary.org/obo/MONDO_0023541		UMLS:C2931393|MESH:C537011
MONDO:0023543	Katsantoni-Papadakou-Lagoyanni syndrome	biolink:Disease	mondo	MESH:C537012|UMLS:C2931394|GARD:0003081	gard_rare	Katsantoni Papadakou Lagoyanni syndrome|Trichodermal syndrome and mental retardation|Trichodermal syndrome and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0023543		UMLS:C2931394|MESH:C537012
NCBITaxon:317865	Rickettsia conorii subsp. indica	organism taxon	mondo	PMID:15766388|GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_317865		
MONDO:0011559	benign recurrent intrahepatic cholestasis type 2	biolink:Disease	mondo	ICD10:K83.1|DOID:0070232|Orphanet:99961|GARD:10029|OMIM:605479|GARD:0010029|MESH:C535934	ordo_clinical_subtype|gard_rare	Bric type 2|mild ABCB11 deficiency|cholestasis, benign recurrent intrahepatic, 2|recurrent familial intrahepatic cholestasis 2|BRIC2|benign recurrent intrahepatic cholestasis 2|cholestasis, benign recurrent intrahepatic 2|cholestasis, benign recurrent intrahepatic, type 2|cholestasis, benign recurrent intrahepatic, 2; BRIC2	http://purl.obolibrary.org/obo/MONDO_0011559		http://identifiers.org/omim/605479|MESH:C535934|MESH:C535931|UMLS:C2608083|DOID:0070232|ORPHA:99961
HGNC:3091	DYRK1A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3091		
MONDO:0011558	Usher syndrome type 2C	biolink:Disease	mondo	OMIM:605472|ICD10:H35.5|GARD:0008497|MESH:C536492|DOID:0110839|NCIT:C153174	gard_rare	Usher syndrome, type IIc, Gpr98/Pdzd7, digenic|USH2C|Usher syndrome, type IIb, formerly|USHER syndrome, type IIC; USH2C|Usher syndrome type IIC|Usher syndrome, type IIb|Usher syndrome, type 2C|USHER syndrome, type IIC	http://purl.obolibrary.org/obo/MONDO_0011558	A form of Usher syndrome type 2 that features a heterozygous frameshift mutation in the GPR98 gene and a heterozygous frameshift mutation in the PDZD7 gene. It is inherited in an autosomal recessive manner.	MESH:C536492|http://identifiers.org/omim/605472|DOID:0110839|NCIT:C153174
MONDO:0011562	autosomal dominant Parkinson disease 4	biolink:Disease	mondo	UMLS:C1854182|OMIM:605543|MESH:C565324|DOID:0060895|ICD10:G20		autosomal dominant Parkinson's disease 4|autosomal dominant Lewy body Parkinson disease 4|Parkinson disease 4, autosomal dominant; PARK4|autosomal dominant Parkinson disease type 4|Parkinson disease 4, autosomal dominant|Parkinson disease 4, autosomal dominant Lewy body|PARK4	http://purl.obolibrary.org/obo/MONDO_0011562	A late onset Parkinson disease that has material basis in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22.	DOID:0060895|MESH:C565324|UMLS:C1854182|http://identifiers.org/omim/605543
MONDO:0011561	Alzheimer disease 6	biolink:Disease	mondo	ICD10:G30|MESH:C565325|OMIM:605526|DOID:0110038		plasma Beta-amyloid-42 level quantitative trait locus|Alzheimer disease type 6|Alzheimer disease 6, late-onset|Alzheimer disease 6|AD6|Alzheimer's disease type 6|AD6|Alzheimer disease 6, late onset|Alzheimer's disease 6	http://purl.obolibrary.org/obo/MONDO_0011561	An Alzheimer's disease that is characterized by an associated with variation in the region 10q24.	MESH:C565325|DOID:0110038|http://identifiers.org/omim/605526
HGNC:3098	TOR1A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3098		
MONDO:0011564	cone-rod dystrophy 8	biolink:Disease	mondo	UMLS:C1854180|DOID:0111014|OMIM:605549|MESH:C565322		CORD8|cone-rod dystrophy 8; CORD8|cone-rod dystrophy 8|cone-rod dystrophy type 8	http://purl.obolibrary.org/obo/MONDO_0011564	A cone-rod dystrophy that has material basis in variation in the chromosome region 1q12-q24.	http://identifiers.org/omim/605549|DOID:0111014|MESH:C565322|UMLS:C1854180
HGNC:3097	DYSF	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3097		
MONDO:0011563	GINGF2	biolink:Disease	mondo	GARD:0002474|MESH:C565323|OMIM:605544		gingival fibromatosis, 2|fibromatosis, gingival, 2|fibromatosis, gingival, hereditary, 2|GGF2|hereditary gingival fibromatosis, 2|HGF2|GINGF2|fibromatosis gingival, hereditary, 2|fibromatosis, gingival, 2; GINGF2	http://purl.obolibrary.org/obo/MONDO_0011563		MESH:C565323|http://identifiers.org/omim/605544
MONDO:0011566	abdominal obesity-metabolic syndrome quantitative trait locus 2	biolink:Disease	mondo	OMIM:605572		Aoms2|abdominal obesity-metabolic syndrome quantitative trait locus type 2|abdominal obesity-metabolic syndrome quantitative trait locus 2	http://purl.obolibrary.org/obo/MONDO_0011566		http://identifiers.org/omim/605572
MONDO:0011565	metabolic syndrome X	biolink:Disease	mondo	ICD9:277.7|COHD:436940|GARD:0009226|DOID:14221|OMIM:605552|UMLS:C0524620|MESH:D024821|SCTID:237602007|ICD10:E88.81		abdominal obesity-metabolic syndrome 1; AOMS1|metabolic syndrome, protection against|abdominal obesity-metabolic syndrome quantitative trait locus 1|dysmetabolic syndrome X|metabolic syndrome type X|metabolic syndrome 10|abdominal obesity-metabolic syndrome 1|abdominal obesity metabolic syndrome|AOMS1	http://purl.obolibrary.org/obo/MONDO_0011565		MESH:D024821|http://identifiers.org/omim/605552|DOID:14221|UMLS:C0524620|SNOMEDCT:237602007
MONDO:0011568	autosomal dominant nonsyndromic deafness 25	biolink:Disease	mondo	DOID:0110555|MESH:C565319|OMIM:605583|ICD10:H90.3|UMLS:C1854158		autosomal dominant nonsyndromic deafness caused by mutation in SLC17A8|deafness, autosomal dominant 25; DFNA25|deafness, autosomal dominant 25|autosomal dominant nonsyndromic deafness type 25|autosomal dominant deafness 25|deafness, autosomal dominant type 25|SLC17A8 autosomal dominant nonsyndromic deafness|DFNA25	http://purl.obolibrary.org/obo/MONDO_0011568	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SLC17A8 gene.	UMLS:C1854158|http://identifiers.org/omim/605583|DOID:0110555|MESH:C565319
MONDO:0011567	dilated cardiomyopathy 1K	biolink:Disease	mondo	MESH:C565320|ICD10:I42.0|OMIM:605582|UMLS:C1854159|DOID:0110437		cardiomyopathy, dilated, 1K|cardiomyopathy, dilated, 1K; CMD1K|CMD1K|dilated cardiomyopathy type 1K	http://purl.obolibrary.org/obo/MONDO_0011567	A dilated cardiomyopathy that has material basis in variation in the chromosome region 6q12-q16.	DOID:0110437|http://identifiers.org/omim/605582|MESH:C565320|UMLS:C1854159
HGNC:3092	DYRK1B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3092		
MONDO:0023538	Kaplowitz-Bodurtha syndrome	biolink:Disease	mondo	UMLS:C2931361|MESH:C536893		congenital hypopituitarism and microphthalmia|hypopituitarism microphthalmia	http://purl.obolibrary.org/obo/MONDO_0023538		MESH:C536893|UMLS:C2931361
MONDO:0023539		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0023539		
HGNC:10360	RPL5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10360		
MONDO:0011560	systemic lupus erythematosus, susceptibility to, 3	biolink:Disease	mondo	OMIM:605480	predisposition	systemic lupus erythematosus, susceptibility to, 3; SLEB3|systemic lupus erythematosus, susceptibility to, 3|SLEB3	http://purl.obolibrary.org/obo/MONDO_0011560		http://identifiers.org/omim/605480
MONDO:0023530	kallikrein hypertension	biolink:Disease	mondo	MESH:C537707|UMLS:C1171349|HGNC:6357|GARD:0006811	gard_rare	kallikrein attenuated hypertension	http://purl.obolibrary.org/obo/MONDO_0023530		UMLS:C1171349|MESH:C537707
MONDO:0011548	cerebral palsy, ataxic, autosomal recessive	biolink:Disease	mondo	GARD:0010451|OMIM:605388|ICD9:343.8	gard_rare	cerebral palsy ataxic|Acp|ataxic cerebral palsy|cerebral palsy, ataxic, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0011548		http://identifiers.org/omim/605388
MONDO:0011547	cataract 31 multiple types	biolink:Disease	mondo	MESH:C535343|ICD10:Q12.0|DOID:0110265|OMIM:605387|GARD:0010227		cataract, posterior polar, 3|CTPP3|CPP3|posterior polar cataract 3|early-onset non-syndromic cataract caused by mutation in CHMP4B|CHMP4B early-onset non-syndromic cataract|cataract 31, multiple types; CTRCT31|CTRCT31|cataract 31, multiple types	http://purl.obolibrary.org/obo/MONDO_0011547	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CHMP4B gene.	MESH:C535343|DOID:0110265|http://identifiers.org/omim/605387
MONDO:0011549	hypotrichosis 1	biolink:Disease	mondo	OMIM:605389|DOID:0110698		HTS|hypotrichosis type 1|HYPT1|hypotrichosis 1|hypotrichosis simplex, generalized, hereditary|APCDD1 hypotrichosis|hypotrichosis caused by mutation in APCDD1|hereditary generalized hypotrichosis simplex|hypotrichosis 1; HYPT1|HHS	http://purl.obolibrary.org/obo/MONDO_0011549	Any hypotrichosis in which the cause of the disease is a mutation in the APCDD1 gene.	http://identifiers.org/omim/605389|DOID:0110698
NCBITaxon:29930	Ixodes pacificus	organism taxon	mondo	GC_ID:1		western blacklegged tick|California black legged tick	http://purl.obolibrary.org/obo/NCBITaxon_29930		
MONDO:0060510	Cohen-Gibson syndrome	biolink:Disease	mondo	UMLS:C4479654|OMIM:617561		Cohen-Gibson syndrome; COGIS|COGIS	http://purl.obolibrary.org/obo/MONDO_0060510		UMLS:C4479654|http://identifiers.org/omim/617561
MONDO:0011551	TH-deficient dopa-responsive dystonia	biolink:Disease	mondo	UMLS:C2673535|OMIM:605407|ICD10:G24.1|GARD:0001902|SCTID:715827001|Orphanet:101150	ordo_disease	autosomal recessive dopa-responsive dystonia|Parkinsonism, infantile, autosomal recessive|Dopa-responsive dystonia, autosomal recessive|DOPA responsive dystonia, autosomal recessive|dystonia, DOPA responsive, autosomal recessive|Segawa syndrome, autosomal recessive|tyrosine hydroxylase-deficient dopa-responsive dystonia|DYT5b|autosomal recessive Segawa syndrome|Dopa-responsive dystonia, autosomal recessive|dopa-responsive dystonia, autosomal recessive|dystonia, Dopa-responsive, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0011551	Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.	http://identifiers.org/omim/605407|UMLS:C2673535|ORPHA:101150|SNOMEDCT:715827001
MONDO:0011550	fibromatosis, gingival, with hypertrichosis and mental retardation	biolink:Disease	mondo	OMIM:605400|UMLS:C1854306|MESH:C565331		fibromatosis, gingival, with hypertrichosis and mental retardation|fibromatosis, gingival, with hypertrichosis and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0011550		MESH:C565331|UMLS:C1854306|http://identifiers.org/omim/605400
MONDO:0011553	autosomal recessive nonsyndromic deafness 26	biolink:Disease	mondo	OMIM:605428|ICD10:H90.3|MESH:C565329|DOID:0110484|UMLS:C1854275		autosomal recessive deafness 26|deafness, autosomal recessive 26; DFNB26|DFNB26|deafness, autosomal recessive 26|autosomal recessive nonsyndromic deafness type 26	http://purl.obolibrary.org/obo/MONDO_0011553	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q31.	UMLS:C1854275|DOID:0110484|http://identifiers.org/omim/605428|MESH:C565329
MONDO:0011552	SCZD10	biolink:Disease	mondo	DOID:0070086|OMIM:605419|MESH:D012560		schizophrenia 10; SCZD10|schizophrenia 10|catatonia, periodic|schizophrenia susceptibility locus, chromosome 15Q15-related|SCZD10	http://purl.obolibrary.org/obo/MONDO_0011552	A schizophrenia that has material basis in an autosomal dominant mutation of SCZD10 on chromosome 15q15.	http://identifiers.org/omim/605419|DOID:0070086|MESH:D012560
MONDO:0011555	radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome	biolink:Disease	mondo	OMIMPS:605432|MESH:C565328|ICD10:Q87.2|SCTID:721882001|Orphanet:71289	ordo_malformation_syndrome	radioulnar synostosis with amegakaryocytic thrombocytopenia|RUSAT|ATRUS syndrome	http://purl.obolibrary.org/obo/MONDO_0011555	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterised by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15).	ORPHA:71289|SNOMEDCT:721882001|MESH:C565328
MONDO:0011554	DFNM1	biolink:Disease	mondo	OMIM:605429		deafness, nonsyndromic, modifier 1|deafness, autosomal recessive 26, modifier of|deafness, autosomal recessive 26, modifier OF; DFNB26M|deafness, nonsyndromic, modifier Of, 1|Dfnb26, modifier of|Dfnb26, suppressor of|deafness, nonsyndromic, modifier 1; DFNM1|DFNB26M|DFNM1	http://purl.obolibrary.org/obo/MONDO_0011554		http://identifiers.org/omim/605429
MONDO:0011557	radiation sensitivity/chromosome instability syndrome, autosomal dominant	biolink:Disease	mondo	UMLS:C1854244|OMIM:605463|MESH:C565326	n_of_one	radiation sensitivity/chromosome instability syndrome, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0011557		MESH:C565326|UMLS:C1854244|http://identifiers.org/omim/605463
MONDO:0011556	BCC1	biolink:Disease	mondo	GARD:0009303|OMIM:605462	predisposition	basal cell carcinoma, susceptibility to, 1|basal cell carcinoma, susceptibility to, 1; BCC1|basal cell carcinoma, nonsyndromic|basal cell carcinoma, multiple|BCC1|multiple basal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0011556		http://identifiers.org/omim/605462
MONDO:0023528	KSHV inflammatory cytokine syndrome	biolink:Disease	mondo	UMLS:C4086533|GARD:0010827|NCIT:C125711	gard_rare	KICS|Kaposi-sarcoma associated Herpesvirus (KSHV) inflammatory cytokine syndrome|KSHV inflammatory cytokine syndrome	http://purl.obolibrary.org/obo/MONDO_0023528	A syndrome caused by Kaposi sarcoma-associated herpesvirus (KSHV) infection. It manifests with fever, weight loss, and fluid retention in the legs or abdomen. Patients are at risk of developing KSHV-related cancers including Kaposi sarcoma and lymphoma.	UMLS:C4086533|NCIT:C125711
HGNC:24969	NPRL2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24969		
MONDO:0023521	Judge Misch wright syndrome	biolink:Disease	mondo	MESH:C537692|GARD:0003061|UMLS:C2931590	gard_rare	keratodermia palmoplantar periorificial|dry skin, photophobia hyperkeratosis, abnormal fingernails|palmoplantar and perioroficial keratoderma with corneal epithelial dysplasia	http://purl.obolibrary.org/obo/MONDO_0023521		UMLS:C2931590|MESH:C537692
MONDO:0060507	retinal dystrophy with or without macular staphyloma	biolink:Disease	mondo	UMLS:C4479651|OMIM:617547		retinal dystrophy with or without macular staphyloma; RDMS|RDMS	http://purl.obolibrary.org/obo/MONDO_0060507		UMLS:C4479651|http://identifiers.org/omim/617547
MONDO:0011537	macrocephaly-autism syndrome	biolink:Disease	mondo	UMLS:C1854416|OMIM:605309|MESH:C565342|Orphanet:210548|DOID:0060867	ordo_disease	macrocephaly-intellectual disability-autism syndrome|macrocephaly/autism syndrome	http://purl.obolibrary.org/obo/MONDO_0011537	An autosomal dominant disease characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material basis in heterozygous mutation in the PTEN gene on chromosome 10q23.	MESH:C565342|http://identifiers.org/omim/605309|UMLS:C1854416|ORPHA:210548|DOID:0060867
MONDO:0011536	optic atrophy 4	biolink:Disease	mondo	UMLS:C1854430|MESH:C565343|DOID:0111440|OMIM:605293		optic atrophy 4|optic atrophy 4; OPA4|OPA4	http://purl.obolibrary.org/obo/MONDO_0011536		MESH:C565343|DOID:0111440|http://identifiers.org/omim/605293|UMLS:C1854430
MONDO:0060502	neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	biolink:Disease	mondo	Orphanet:521426|UMLS:C4479631|OMIM:617527	ordo_malformation_syndrome	NDMSBA|neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies; NDMSBA	http://purl.obolibrary.org/obo/MONDO_0060502		ORPHA:521426|UMLS:C4479631|http://identifiers.org/omim/617527
MONDO:0011539	nemaline myopathy 5	biolink:Disease	mondo	ICD10:G71.2|GARD:0008334|OMIM:605355|UMLS:C1854380|Orphanet:98902|DOID:0110936|MESH:C538397	ordo_disease	NEM5|nemaline myopathy 5|ANM|TNNT1 nemaline myopathy|Amish nemaline myopathy|nemaline myopathy 5, Amish type|nemaline myopathy caused by mutation in TNNT1|nemaline myopathy, Amish type|nemaline myopathy 5; NEM5|nemaline myopathy type 5|nemaline myopathy, caused by mutation in the troponin t1 gene	http://purl.obolibrary.org/obo/MONDO_0011539	Amish nemaline myopathy is a type of nemaline myopathy (NM) only observed in several families of the Amish community.	MESH:C538397|ORPHA:98902|http://identifiers.org/omim/605355|UMLS:C1854380|DOID:0110936
MONDO:0011538	frontoocular syndrome	biolink:Disease	mondo	UMLS:C1854405|MESH:C565340|OMIM:605321		frontoocular syndrome	http://purl.obolibrary.org/obo/MONDO_0011538		MESH:C565340|http://identifiers.org/omim/605321|UMLS:C1854405
MONDO:0011540	spinocerebellar ataxia type 14	biolink:Disease	mondo	OMIM:605361|MESH:C537196|GARD:0009867|SCTID:719210007|DOID:0050964|UMLS:C4304883|ICD10:G11.2|Orphanet:98763|UMLS:C1854369	ordo_disease	spinocerebellar ataxia 14; SCA14|SCA14|spinocerebellar ataxia 14|spinocerebellar ataxia type 14	http://purl.obolibrary.org/obo/MONDO_0011540	Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.	DOID:0050964|http://identifiers.org/omim/605361|UMLS:C1854369|SNOMEDCT:719210007|MESH:C537196|ORPHA:98763|UMLS:C4304883
HGNC:10345	RPL35A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10345		
MONDO:0011542	PSORS6	biolink:Disease	mondo	DOID:0111290|OMIM:605364		PSORS6|psoriasis 6, susceptibility to; PSORS6|psoriasis 6, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0011542		http://identifiers.org/omim/605364|DOID:0111290
MONDO:0011541	dilated cardiomyopathy 1J	biolink:Disease	mondo	Orphanet:217622|DOID:0110440|OMIM:605362|MESH:C565337|UMLS:C1854368	ordo_disease	sensorineural deafness with dilated cardiomyopathy|autosomal dominant dilated cardiomyopathy with sensorineural hearing loss|cardiomyopathy, dilated, type 1J|neurosensory hearing loss with dilated cardiomyopathy|CMD1J|neurosensory deafness with dilated cardiomyopathy|dilated cardiomyopathy type 1J|cardiomyopathy, dilated, 1J|cardiomyopathy, dilated, 1J; CMD1J|EYA4 familial dilated cardiomyopathy|cardiomyopathy, dilated, with sensorineural hearing loss, autosomal dominant|familial dilated cardiomyopathy caused by mutation in EYA4|sensorineural hearing loss with dilated cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0011541	Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.	http://identifiers.org/omim/605362|UMLS:C1854368|DOID:0110440|ORPHA:217622|MESH:C565337
MONDO:0011544	paragangliomas 3	biolink:Disease	mondo	OMIM:605373|GARD:0010545|UMLS:C1854336	gard_rare	PGL3|SDHC paraganglioma|glomus tumors, familial, 3|paragangliomas 3; PGL3|SDHC-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 3)|paragangliomas type 3|paragangliomas 3|paraganglioma caused by mutation in SDHC	http://purl.obolibrary.org/obo/MONDO_0011544	Any paraganglioma in which the cause of the disease is a mutation in the SDHC gene.	UMLS:C1854336|http://identifiers.org/omim/605373
MONDO:0011543	obsolete BRCA3	biolink:Disease	mondo	UMLS:C1854365|OMIM:605365|MESH:C565336		breast cancer 3|moved to 114480|BRCA3|breast cancer 3; BRCA3|Brcax	http://purl.obolibrary.org/obo/MONDO_0011543		MESH:C565336|UMLS:C1854365|http://identifiers.org/omim/605365
MONDO:0011546	heterotaxy, visceral, 2, autosomal	biolink:Disease	mondo	UMLS:C1415817|OMIM:605376		heterotaxy, visceral, 2, autosomal|heterotaxy, visceral, 2, autosomal; HTX2|Htx|HTX2|transposition of the great arteries, dextro-looped 2; DTGA2	http://purl.obolibrary.org/obo/MONDO_0011546		http://identifiers.org/omim/605376|UMLS:C1415817
MONDO:0011545	autosomal dominant nocturnal frontal lobe epilepsy 3	biolink:Disease	mondo	MESH:C565334|UMLS:C1854335|DOID:0060684|OMIM:605375		autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNB2|epilepsy, nocturnal frontal lobe, 3|epilepsy, nocturnal frontal lobe, 3; ENFL3|autosomal dominant nocturnal frontal lobe epilepsy type 3|nocturnal frontal lobe epilepsy 3|CHRNB2 autosomal dominant nocturnal frontal lobe epilepsy|ENFL3|epilepsy, nocturnal frontal lobe, type 3	http://purl.obolibrary.org/obo/MONDO_0011545	Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNB2 gene.	MESH:C565334|http://identifiers.org/omim/605375|UMLS:C1854335|DOID:0060684
MONDO:0023595	congenital myotonic dystrophy	biolink:Disease	mondo	NCIT:C123308|UMLS:C0410226|GARD:0009134	gard_rare	congenital myotonic dystrophy|Congenital Myotonic dystrophy|dystrophies, Congenital Myotonic|MYOTONIC dystrophy CONGEN|dystrophy, Congenital Myotonic|Congenital Myotonic dystrophies|Myotonic dystrophy, Congenital|Congenital myotonic dystrophy|Myotonic dystrophies, Congenital	http://purl.obolibrary.org/obo/MONDO_0023595	Myotonic dystrophy that is present at birth.	UMLS:C0410226|NCIT:C123308
MONDO:0023597	laryngeal papillomatosis	biolink:Disease	mondo	SCTID:232457008|UMLS:C0396072|MESH:C537876|GARD:0006864	gard_rare	juvenile laryngeal papillomatosis (subtype)|recurrent laryngeal papillomatosis|laryngeal papillomatosis|recurrent laryngeal papillomatosis (subtype)|juvenile laryngeal papillomatosis|Warts in the throat	http://purl.obolibrary.org/obo/MONDO_0023597	Laryngeal papillomatosis is a form of recurrent respiratory papillomatosis where tumors (papillomas) grow in the larynx (voice box).Symptoms usually begin with hoarseness and/or a change in the voice.Some people mayexperience difficulty breathing (dyspnea) and/or experience other life-threatening complications if the papillomas block the airway. The tumors may vary in size and grow very quickly. They often grow back even when removed.Laryngeal papillomatosisis caused by two types of human papilloma virus (HPV), called HPV 6 and HPV 11.	SNOMEDCT:232457008|UMLS:C0396072|MESH:C537876
MONDO:0023599	mesomelic dysplasia	biolink:Disease	mondo	SCTID:205473008|NCIT:C121156|UMLS:C0410536		mesomelic dysplasia|Mesomelic Dysplasia|Mesomelic dysplasia|mesomelic dysplasias|Mesomelic dwarf	http://purl.obolibrary.org/obo/MONDO_0023599	A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae).	NCIT:C121156|UMLS:C0410536|SNOMEDCT:205473008
HGNC:10306	RPL15	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10306		
HGNC:12974	RNF113A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12974		
HP:0002733	Abnormality of the lymph nodes	biolink:PhenotypicFeature	mondo	UMLS:C0149727		Abnormality of the lymph nodes|Abnormal lymph node histology	http://purl.obolibrary.org/obo/HP_0002733	A lymph node abnormality.	
HGNC:10313	RPL21	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10313		
HP:0002748	Rickets	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:41345002|MSH:D012279|UMLS:C0035579		Weak and soft bones	http://purl.obolibrary.org/obo/HP_0002748	Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.	
MONDO:0023581	Kuster syndrome	biolink:Disease	mondo	UMLS:C2931741|MESH:C538126|GARD:0003152	gard_rare	cleft lip palate lip pits limb deficiency|cleft lip and palate, lower lip pits, and limb deficiency defects	http://purl.obolibrary.org/obo/MONDO_0023581		MESH:C538126|UMLS:C2931741
HGNC:10327	RPL26	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10327		
MONDO:0023573	Kozlowski Warren Fisher syndrome	biolink:Disease	mondo	UMLS:C2931546|MESH:C537614|GARD:0000353	gard_rare	cloverleaf skull generalised bone dysplasia	http://purl.obolibrary.org/obo/MONDO_0023573		MESH:C537614|UMLS:C2931546
MONDO:0023575	Krauss Herman Holmes syndrome	biolink:Disease	mondo	UMLS:C2931549|MESH:C537618|GARD:0003143	gard_rare	telecanthus, hypertelorism, strabismus, and pes cavus syndrome	http://purl.obolibrary.org/obo/MONDO_0023575		MESH:C537618|UMLS:C2931549
NCBITaxon:713	Actinobacillus	organism taxon	mondo	PMID:15143001|GC_ID:11|PMID:1736960			http://purl.obolibrary.org/obo/NCBITaxon_713		
MONDO:0023577	Krieble Bixler syndrome	biolink:Disease	mondo	MESH:C537619|UMLS:C2931550|GARD:0003144	gard_rare	autosomal dominant blepharophimosis with multiple congenital anomalies	http://purl.obolibrary.org/obo/MONDO_0023577		UMLS:C2931550|MESH:C537619
MONDO:0023579	Kuster Majewski Hammerstein syndrome	biolink:Disease	mondo	MESH:C538125|GARD:0003151|UMLS:C2931740	gard_rare	alopecia macular degeneration growth retardation|alopecia, macular degeneration, and growth retardation	http://purl.obolibrary.org/obo/MONDO_0023579		UMLS:C2931740|MESH:C538125
HP:0002715	Abnormality of the immune system	biolink:PhenotypicFeature	mondo	UMLS:C4021753		Immunological abnormality|Abnormality of the immune system	http://purl.obolibrary.org/obo/HP_0002715	An abnormality of the immune system.	
HP:0002716	Lymphadenopathy	biolink:PhenotypicFeature	mondo	UMLS:C0497156|MSH:D000072281|SNOMEDCT_US:30746006		Swollen lymph nodes|Lymph node hyperplasia	http://purl.obolibrary.org/obo/HP_0002716	Enlargment (swelling) of a lymph node.	
NCBITaxon:712	Pasteurellaceae	organism taxon	mondo	PMID:10843050|PMID:15388716|PMID:15280320|GC_ID:11|PMID:29923825|PMID:2223605|PMID:17220461			http://purl.obolibrary.org/obo/NCBITaxon_712		
HP:0002719	Recurrent infections	biolink:PhenotypicFeature	mondo	UMLS:C0239998		Susceptibility to infection|Frequent infections|infections, recurrent|Increased frequency of infection|Frequent, severe infections|Recurrent infections|Predisposition to infections	http://purl.obolibrary.org/obo/HP_0002719	Increased susceptibility to infections.	
MONDO:0023571	Kozlowski Rafinski Klicharska syndrome	biolink:Disease	mondo	GARD:0003140|MESH:C537509|UMLS:C2931513	gard_rare	metaphyseal and epiphyseal dysplasia with unusual facies and cataract	http://purl.obolibrary.org/obo/MONDO_0023571		MESH:C537509|UMLS:C2931513
HP:0002717	Adrenal overactivity	biolink:PhenotypicFeature	mondo	UMLS:C4025685			http://purl.obolibrary.org/obo/HP_0002717		
HP:0002718	Recurrent bacterial infections	biolink:PhenotypicFeature	mondo	UMLS:C4020846|SNOMEDCT_US:428875002|UMLS:C1844383|UMLS:C2748958		Recurrent bacterial infections|Frequent pyogenic infections|Susceptibility to pyogenic infection|Prone to bacterial infection|Frequent bacterial infections|Recurrent major bacterial infections|Recurrent pyogenic infections|Bacterial infections, recurrent|Increased susceptibility to bacterial infections	http://purl.obolibrary.org/obo/HP_0002718	Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.	
MONDO:0011595	nonsyndromic congenital nail disorder 7	biolink:Disease	mondo	GARD:0009761|SCTID:403281007|OMIM:605779|ICD10:Q84.6|Orphanet:79144|DOID:0080085|UMLS:C1853984|MESH:C538333	ordo_disease	nonsyndromic congenital nail disorder type 7|NDNC7|Iso-Kikuchi syndrome|congenital onychodysplasia of the index fingers|isolated congenital nail dysplasia|nail disorder, nonsyndromic congenital, 7; NDNC7|isolated congenital onychodysplasia|nail disorder, nonsyndromic congenital, 7|nail dysplasia, isolated congenital|COIF|COIF syndrome|onychodysplasia, isolated congenital|congenital isolated nail dysplasia	http://purl.obolibrary.org/obo/MONDO_0011595		MESH:C538333|DOID:0080085|ORPHA:79144|SNOMEDCT:403281007|http://identifiers.org/omim/605779|UMLS:C1853984
MONDO:0011594	ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis	biolink:Disease	mondo	OMIM:605756|UMLS:C3148970		ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis|gonadal dysgenesis, hypergonadotropic, 20 type, with short stature and recurrent metabolic acidosis	http://purl.obolibrary.org/obo/MONDO_0011594		UMLS:C3148970|http://identifiers.org/omim/605756
MONDO:0011597	atopic dermatitis 3	biolink:Disease	mondo	MESH:C565292|UMLS:C1853964|DOID:0110099|OMIM:605804		dermatitis, ATOPIC, 3|atopic dermatitis type 3|dermatitis, ATOPIC, 3; ATOD3|atopic dermatitis with asthma|dermatitis, Atopic, with asthma|ATOD3	http://purl.obolibrary.org/obo/MONDO_0011597	An atopic dermatitis associated with variation in the region 20p.	MESH:C565292|DOID:0110099|http://identifiers.org/omim/605804|UMLS:C1853964
NCBITaxon:27317		organism taxon	mondo				http://purl.obolibrary.org/obo/NCBITaxon_27317		
MONDO:0011596	atopic dermatitis 2	biolink:Disease	mondo	DOID:0110098|OMIM:605803|MESH:C565293|UMLS:C1853965		dermatitis, ATOPIC, 2|dermatitis, Atopic, type 2|dermatitis, ATOPIC, 2; ATOD2|atopic dermatitis type 2|FLG atopic eczema|ATOD2|atopic eczema caused by mutation in FLG	http://purl.obolibrary.org/obo/MONDO_0011596	Any atopic eczema in which the cause of the disease is a mutation in the FLG gene.	MESH:C565293|DOID:0110098|http://identifiers.org/omim/605803|UMLS:C1853965
MONDO:0011599	birdshot chorioretinopathy	biolink:Disease	mondo	UMLS:C1853959|MESH:C537630|DOID:0111079|Orphanet:179|GARD:0005926|OMIM:605808|SCTID:231981005|ICD10:H30.1|UMLS:C0339402	gard_rare|ordo_disease	birdshot chorioretinitis|BSCR|birdshot chorioretinopathy|vitiliginous choroiditis|multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disk|Bscr|birdshot retinochoroiditis|birdshot retinochoroidopathy	http://purl.obolibrary.org/obo/MONDO_0011599	Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia.	UMLS:C1853959|ORPHA:179|DOID:0111079|MESH:C537630|UMLS:C0339402|http://identifiers.org/omim/605808|SNOMEDCT:231981005
MONDO:0011598	atopic dermatitis 4	biolink:Disease	mondo	DOID:0110100|MESH:C565291|UMLS:C1853963|OMIM:605805		dermatitis, ATOPIC, 4|atopic dermatitis type 4|ATOD4|dermatitis, ATOPIC, 4; ATOD4	http://purl.obolibrary.org/obo/MONDO_0011598	An atopic dermatitis associated with variation in the region 17q25.3.	MESH:C565291|DOID:0110100|http://identifiers.org/omim/605805|UMLS:C1853963
HGNC:24928	VPS37A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24928		
MONDO:0011591	cataract 26 multiple types	biolink:Disease	mondo	ICD10:Q12.0|OMIM:605749|UMLS:C1854003|MESH:C565298|DOID:0110246		cataract 26, multiple types|cataract, autosomal recessive, early-onset, pulverulent|cataract 26, multiple types; CTRCT26|CTRCT26	http://purl.obolibrary.org/obo/MONDO_0011591	A cataract that has material basis in variation in the region 9q13-q22.	MESH:C565298|UMLS:C1854003|DOID:0110246|http://identifiers.org/omim/605749
MONDO:0011590	anisomastia	biolink:Disease	mondo	OMIM:605746|MESH:C565299		anisomastia	http://purl.obolibrary.org/obo/MONDO_0011590		MESH:C565299|http://identifiers.org/omim/605746
MONDO:0011593	seizures, benign familial infantile, 2	biolink:Disease	mondo	UMLS:C1853995|MESH:C565296|OMIM:605751		BFIS2|seizures, benign familial infantile, 2; BFIS2|convulsions, benign familial infantile, 2|seizures, benign familial infantile, type 2|seizures, benign familial infantile, 2	http://purl.obolibrary.org/obo/MONDO_0011593		MESH:C565296|http://identifiers.org/omim/605751|UMLS:C1853995
MONDO:0011592	EVR3	biolink:Disease	mondo	DOID:0111409|MESH:C565297|UMLS:C1854002|OMIM:605750		exudative vitreoretinopathy 3|exudative vitreoretinopathy 3; EVR3|EVR3	http://purl.obolibrary.org/obo/MONDO_0011592		MESH:C565297|DOID:0111409|UMLS:C1854002|http://identifiers.org/omim/605750
NCBITaxon:727	Haemophilus influenzae	organism taxon	mondo	GC_ID:11		Mycobacterium influenzae|Coccobacillus pfeifferi|Bacterium influenzae|Influenza-bacillus|Haemophilus meningitidis	http://purl.obolibrary.org/obo/NCBITaxon_727		
MONDO:0023563	Kotzot-Richter syndrome	biolink:Disease	mondo	UMLS:C2931399|GARD:0003134|MESH:C537025	gard_rare	albinism with immune and hematologic defects|oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies	http://purl.obolibrary.org/obo/MONDO_0023563		MESH:C537025|UMLS:C2931399
NCBITaxon:724	Haemophilus	organism taxon	mondo	GC_ID:11|PMID:1736960			http://purl.obolibrary.org/obo/NCBITaxon_724		
HGNC:24945	GPIHBP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24945		
MONDO:0023567	Kozlowski Brown Hardwick syndrome	biolink:Disease	mondo	UMLS:C2931511|MESH:C537506|GARD:0003136	gard_rare	unusual facies, hooked clavicles, 13 pairs of ribs, widened metaphyses, square shaped vertebral bodies and communicating hydrocephalus	http://purl.obolibrary.org/obo/MONDO_0023567		UMLS:C2931511|MESH:C537506
MONDO:0023569	Kozlowski Ouvrier syndrome	biolink:Disease	mondo	UMLS:C2931512|MESH:C537508|GARD:0003139	gard_rare	agenesis of the corpus callosum with mental retardation and osseous lesions|agenesis of the corpus callosum with intellectual disability and osseous lesions	http://purl.obolibrary.org/obo/MONDO_0023569		UMLS:C2931512|MESH:C537508
NCBITaxon:29960	Penaeus indicus	organism taxon	mondo	GC_ID:1		Penaeus (Fenneropenaeus) indicus|Fenneropenaeus indicus	http://purl.obolibrary.org/obo/NCBITaxon_29960		
HP:0002725	Systemic lupus erythematosus	biolink:PhenotypicFeature	mondo	UMLS:C0024141|SNOMEDCT_US:55464009|MSH:D008180		SLE	http://purl.obolibrary.org/obo/HP_0002725	A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes.	
NCBITaxon:723	Actinobacillus ureae	organism taxon	mondo	GC_ID:11		Pasterella haemolytica var. ureae|Pasteurella ureae	http://purl.obolibrary.org/obo/NCBITaxon_723		
MONDO:0023561	Koone-Rizzo-Elias syndrome	biolink:Disease	mondo	MESH:C537023|GARD:0003131|UMLS:C2931397	gard_rare	Koone Rizzo Elias syndrome|ichthyosis, mental retardation and asymptomatic spasticity|ichthyosis, intellectual disability and asymptomatic spasticity	http://purl.obolibrary.org/obo/MONDO_0023561		MESH:C537023|UMLS:C2931397
MONDO:0011584	Fanconi anemia complementation group D1	biolink:Disease	mondo	DOID:0111089|UMLS:C1838457|OMIM:605724|MESH:C563980|Orphanet:319462|SCTID:766707003|NCIT:C125705	ordo_disease	Fanconi anemia, complementation group D1|inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations|Fanconi anemia, complementation group D1; FANCD1|Fad1|FAD1|FANCD1	http://purl.obolibrary.org/obo/MONDO_0011584	Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.	ORPHA:319462|SNOMEDCT:766707003|DOID:0111089|UMLS:C1838457|http://identifiers.org/omim/605724|MESH:C563980|NCIT:C125705
MONDO:0011583	cerebral amyloid angiopathy, APP-related	biolink:Disease	mondo	UMLS:C3888307|DOID:0070028|UMLS:C2751494|UMLS:C2751536|UMLS:C3888309|OMIM:605714|UMLS:C3888308		amyloidosis, hereditary, with cerebral hemorrhage, Dutch variant|cerebral amyloid angiopathy, APP-related, Italian variant|cerebral amyloid angiopathy, APP-related, Flemish variant|amyloidosis, Cerebroarterial, APP-related|cerebral amyloid angiopathy, APP-related, Iowa variant|HCHWAD|cerebral amyloid angiopathy, APP-related|APP-related cerebral amyloid angiopathy|cerebral amyloid angiopathy, APP-related, Arctic variant|cerebral amyloid angiopathy, APP-related, Dutch variant	http://purl.obolibrary.org/obo/MONDO_0011583	A cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of APP on chromosome 21q21.3.	DOID:0070028|UMLS:C3888309|UMLS:C3888308|UMLS:C3888307|UMLS:C2751536|UMLS:C2751494|http://identifiers.org/omim/605714
HGNC:10301	RPL11	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10301		
MONDO:0011586	OTSC2	biolink:Disease	mondo	OMIM:605727|MESH:C565302|UMLS:C1854022		otosclerosis 2|OTSC2|otosclerosis 2; OTSC2	http://purl.obolibrary.org/obo/MONDO_0011586		MESH:C565302|UMLS:C1854022|http://identifiers.org/omim/605727
MONDO:0011585	autosomal recessive distal spinal muscular atrophy 2	biolink:Disease	mondo	DOID:0111065|MESH:C535715|SCTID:763533003|ICD10:G12.2|OMIM:605726|Orphanet:139552|GARD:0010133	ordo_disease	DSMA2|spinal muscular atrophy, Jerash type|spinal muscular atrophy Jerash type|motor neuropathy, distal, Jerash type|hereditary motor neuropathy, Jerash type|spinal muscular atrophy, distal, autosomal recessive, 2; DSMA2|DSMA2|autosomal recessive distal spinal muscular atrophy type 2|MNDJ|spinal muscular atrophy, distal, autosomal recessive, type 2|distal hereditary motor neuropathy Jerash type|dHMNJ|neuronopathy, distal hereditary motor, Jerash type|distal hereditary motor neuropathy, Jerash type|spinal muscular atrophy, distal, autosomal recessive, 2|HMNJ|neuropathy, distal hereditary motor, Jerash type	http://purl.obolibrary.org/obo/MONDO_0011585	Distal hereditary motor neuropathy, Jerash type is a rare, genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes (~10 years after onset).	ORPHA:139552|DOID:0111065|SNOMEDCT:763533003|UMLS:C1854023|MESH:C535715|http://identifiers.org/omim/605726
MONDO:0011588	platelet-type bleeding disorder 12	biolink:Disease	mondo	DOID:0111058|MESH:C567786|UMLS:C2751535|OMIM:605735		BDPLT12|prostaglandin-endoperoxide synthase 1 deficiency, platelet|platelet prostaglandin-endoperoxide synthase 1 deficiency|platelet cyclooxygenase 1 deficiency|PGHS1 deficiency|bleeding disorder, platelet-type, 12; BDPLT12|platelet COX1 deficiency|bleeding disorder, platelet-type, 12	http://purl.obolibrary.org/obo/MONDO_0011588	An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity.	MESH:C567786|DOID:0111058|UMLS:C2751535|http://identifiers.org/omim/605735
MONDO:0011587	cataract 25	biolink:Disease	mondo	ICD10:Q12.0|DOID:0110254|MESH:C565301|OMIM:605728		CTRCT25|early-onset cataract with Y-shaped suture opacities|central pouch-like cataract with sutural opacities|CCSSO|central saccular cataract with sutural opacities|cataract, central pouch-like, with sutural opacities|cataract type 25|cataract, central saccular, with sutural opacities|cataract 25; CTRCT25|cataract 25	http://purl.obolibrary.org/obo/MONDO_0011587	A cataract that has material basis in variation in the region 15q21-q22.	MESH:C565301|DOID:0110254|http://identifiers.org/omim/605728
MONDO:0011589	MCOPCB2	biolink:Disease	mondo	UMLS:C1854018|OMIM:605738|MESH:C565300		microphthalmia, isolated, with coloboma 2; MCOPCB2|microphthalmia, colobomatous, isolated 2|microphthalmia, isolated, with coloboma 2|MCOPCB2	http://purl.obolibrary.org/obo/MONDO_0011589		MESH:C565300|UMLS:C1854018|http://identifiers.org/omim/605738
HP:0002721	Immunodeficiency	biolink:PhenotypicFeature	mondo	MSH:D007153|SNOMEDCT_US:234532001|UMLS:C0021051		Decreased immune function|Immune deficiency	http://purl.obolibrary.org/obo/HP_0002721	Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.	
MONDO:0011580	cerebellar ataxia and hypergonadotropic hypogonadism	biolink:Disease	mondo	OMIM:605672|MESH:C565308|UMLS:C1854064		cerebellar ataxia and hypergonadotropic hypogonadism	http://purl.obolibrary.org/obo/MONDO_0011580		MESH:C565308|UMLS:C1854064|http://identifiers.org/omim/605672
MONDO:0011582	multiple mitochondrial dysfunctions syndrome 1	biolink:Disease	mondo	OMIM:605711|UMLS:C3276432|DOID:0080133|Orphanet:401869|ICD10:E88.8|UMLS:CN226135	ordo_disease	multiple mitochondrial dysfunctions syndrome 1; MMDS1|multiple mitochondrial dysfunctions syndrome type 1|NFU1 fatal multiple mitochondrial dysfunctions syndrome|Mmds|fatal multiple mitochondrial dysfunctions syndrome caused by mutation in NFU1|NFU1 deficiency|multiple mitochondrial dysfunctions syndrome 1|MMDS1	http://purl.obolibrary.org/obo/MONDO_0011582	Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the NFU1 gene.	UMLS:CN226135|ORPHA:401869|DOID:0080133|http://identifiers.org/omim/605711|UMLS:C3276432
MONDO:0011581	arrhythmogenic cardiomyopathy with woolly hair and keratoderma	biolink:Disease	mondo	DOID:0090128|Orphanet:65282|UMLS:C1854063|SCTID:719835006|OMIM:605676|GARD:0005595|MESH:C535581	ordo_disease|gard_rare	DCWHK|cardiomyopathy, dilated, with woolly hair and keratoderma|palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair|keratoderma with woolly hair type II|epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy|woolly hair - palmoplantar keratoderma - dilated cardiomyopathy syndrome|dilated cardiomyopathy with woolly hair and keratoderma|cardiomyopathy, dilated, with woolly hair and keratoderma; DCWHK|woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome|cardiomyopathy dilated with woolly hair and keratoderma|wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome|wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome|wooly hair - palmoplantar keratoderma - dilated cardiomyopathy|KWWH type II|Carvajal syndrome	http://purl.obolibrary.org/obo/MONDO_0011581	Arrhythmogenic cardiomyopathy with woolly hair and keratoderma is often associated with the gene DSP, encoding desmoplakin. Desmoplakin is a member of the plakin family of cell adhesion molecules that are responsible for the formation and maintenance of desmosomes. Variation in DSP is associated with cardiomyopathic manifestations that include: (1) seemingly isolated arrhythmogenic right ventricle cardiomyopathy (ARVC) that is atypical and can show left ventricle dominance, or be present in the left and right ventricle simultaneously; and (2) dilated cardiomyopathy. Cutaneous phenotypes including woolly hair and/or keratoderma can present along with the cardiomyopathy, but are noted as less penetrant features.	SNOMEDCT:719835006|UMLS:C1854063|DOID:0090128|MESH:C535581|http://identifiers.org/omim/605676|ORPHA:65282
HGNC:24912	LARP7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/24912		
HGNC:12926	ZNF141	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12926		
UBERON:0034994	hindbrain cortical intermediate zone	biolink:AnatomicalEntity	mondo			hindbrain mantle layer	http://purl.obolibrary.org/obo/UBERON_0034994		
UBERON:0034995	jaw mesenchyme	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0034995	Mesenchyme that is part of a developing jaw [Automatically generated definition].	
UBERON:0034996	outer renal medulla loop of Henle	biolink:AnatomicalEntity	mondo			loop of Henle, outer medullary portion	http://purl.obolibrary.org/obo/UBERON_0034996		
HGNC:12930	ZBTB16	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12930		
UBERON:0034986	sacral nerve plexus	biolink:AnatomicalEntity	mondo			plexus sacralis|sacral plexus|plexus sacralis	http://purl.obolibrary.org/obo/UBERON_0034986	A nerve plexus which provides motor and sensory nerves for the posterior thigh, most of the lower leg, the entire foot, and part of the pelvis.	
UBERON:0034987	lumbar nerve plexus	biolink:AnatomicalEntity	mondo			plexus lumbalis|plexus lumbalis|lumbar plexus|femoral plexus	http://purl.obolibrary.org/obo/UBERON_0034987	A nervous plexus in the lumbar region of the body which forms part of the lumbosacral plexus.	
UBERON:0007376	outer epithelium	biolink:AnatomicalEntity	mondo			hypoderm|epidermis|outer epithelial layer|outer epidermal layer|hypodermis|epidermis (sensu Metazoa)	http://purl.obolibrary.org/obo/UBERON_0007376	The epidermis is the entire outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species[GO].	
UBERON:0007375	roof of mouth	biolink:AnatomicalEntity	mondo			roof of buccal cavity|roof of oral cavity|palate|palatum|primary or secondary palate	http://purl.obolibrary.org/obo/UBERON_0007375	A multi-tissue structure consisting of bone and soft tissue that forms a part of the roof of the oral cavity. In mammals this is the combination of the primary palate (premaxilla) and the secondary palate. In early tetrapods it consists of the vomer, pterygoid, parasphenoid, palatine and ectopterygoid bones.	
UBERON:0007373	inferior surface of tongue	biolink:AnatomicalEntity	mondo			ventrum linguae|ventral surface of tongue	http://purl.obolibrary.org/obo/UBERON_0007373	The lower (inferior) side of the tongue.	
HGNC:12933	ZNF148	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12933		
UBERON:0007371	superior surface of tongue	biolink:AnatomicalEntity	mondo			dorsal surface of tongue	http://purl.obolibrary.org/obo/UBERON_0007371	The upper (superior) side of the tongue.	
HGNC:3007	DPM3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3007		
HGNC:3006	DPM2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3006		
HGNC:3005	DPM1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3005		
HGNC:3003	DPH1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3003		
UBERON:0020358	accessory XI nerve nucleus	biolink:AnatomicalEntity	mondo			accessory nucleus of anterior column of spinal cord|nucleus nervi accessorii|nucleus accessorius columnae anterioris medullae spinalis|accessory neural nucleus|nucleus of the spinal accessory nerve|spinal accessory nucleus|nucleus of the accessory nerve|nucleus of accessory nerve	http://purl.obolibrary.org/obo/UBERON_0020358	The spinal accessory nucleus lies within the cervical spinal cord (C1-C5) in the ventral horn. The nucleus ambiguus is classically said to provide the 'cranial component' of the accessory nerve. However, the very existence of this cranial component has been recently questioned and seen as contributing exclusively to the vagus nerve. The terminology continues to be used in describing both human anatomy, and that of other animals.	
NCBITaxon:64320	Zika virus	organism taxon	mondo	GC_ID:1		ZIKV	http://purl.obolibrary.org/obo/NCBITaxon_64320		
UBERON:0007367	surface of tongue	biolink:AnatomicalEntity	mondo			tongue surface	http://purl.obolibrary.org/obo/UBERON_0007367	An anatomical surface that is part of a tongue.	
UBERON:0034997	renal medulla loop of Henle	biolink:AnatomicalEntity	mondo			loop of Henle, medullary portion|loop of Henle of renal medulla	http://purl.obolibrary.org/obo/UBERON_0034997		
HGNC:3010	DPP6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3010		
CHEBI:32952	amine	biolink:ChemicalSubstance	mondo			Substituted amine|Amine|amines|Amin	http://purl.obolibrary.org/obo/CHEBI_32952	A compound formally derived from ammonia by replacing one, two or three hydrogen atoms by hydrocarbyl groups.	
HGNC:3018	SLC26A3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3018		
HGNC:3013	DPYS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3013		
HGNC:3012	DPYD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3012		
UBERON:0007355	bony part of pharyngotympanic tube	biolink:AnatomicalEntity	mondo			bony part of eustachian tube|pars ossea (tuba auditoria)|osseous portion of eustachian tube|pars ossea tubae auditivae|osseous portion|bony part of auditory tube|pars ossea (tuba auditiva)	http://purl.obolibrary.org/obo/UBERON_0007355	The bony part of pharyngotympanic tube is about 12 mm. in length. It begins in the carotid wall of the tympanic cavity, below the septum canalis musculotubarii, and, gradually narrowing, ends at the angle of junction of the squama and the petrous portion of the temporal bone, its extremity presenting a jagged margin which serves for the attachment of the cartilaginous portion.	
UBERON:0007354	cartilage of pharyngotympanic tube	biolink:AnatomicalEntity	mondo			cartilage of eustachian tube|pharyngotympanic tube cartilage|cartilago tubae auditivae; cartilago tubae auditoriae|cartilago tubae auditivae|cartilage of auditory tube|cartilago tubae auditoriae	http://purl.obolibrary.org/obo/UBERON_0007354	A triangular plate of elastic fibrocartilage that forms the cartilage component of the pharyngotympanic tube.	
UBERON:0010996	articular cartilage of joint	biolink:AnatomicalEntity	mondo			hyaline cartilage|cartilago articularis|articular cartilage|joint-associated cartilage	http://purl.obolibrary.org/obo/UBERON_0010996	A thin layer of cartilage, usually hyaline, on the articular surface of bones in synovial joints.	
HGNC:12910	MKRN3-AS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/12910		
HGNC:3026	DRD5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3026		
HGNC:3025	DRD4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3025		
HGNC:3024	DRD3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3024		
HGNC:3023	DRD2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3023		
NCBITaxon:207598	Homininae	organism taxon	mondo	GC_ID:1		Homo/Pan/Gorilla group	http://purl.obolibrary.org/obo/NCBITaxon_207598		
HGNC:3033	ATN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3033		
CHEBI:78295	food component	biolink:ChemicalSubstance	mondo			dietary components|dietary component|food components	http://purl.obolibrary.org/obo/CHEBI_78295	Any substance that is distributed in foodstuffs. It includes materials derived from plants or animals, such as vitamins or minerals, as well as environmental contaminants.	
CHEBI:17310	pyridoxal	biolink:ChemicalSubstance	mondo			3-hydroxy-5-(hydroxymethyl)-2-methylpyridine-4-carbaldehyde|3-HYDROXY-5-(HYDROXYMETHYL)-2-METHYLISONICOTINALDEHYDE|pyridoxal|Pyridoxal|pyridoxaldehyde	http://purl.obolibrary.org/obo/CHEBI_17310	A pyridinecarbaldehyde that is pyridine-4-carbaldehyde bearing methyl, hydroxy and hydroxymethyl substituents at positions 2, 3 and 5 respectively. The 4-carboxyaldehyde form of vitamin B6, it is converted into pyridoxal phosphate, a coenzyme for the synthesis of amino acids, neurotransmitters, sphingolipids and aminolevulinic acid.	
CHEBI:78298	environmental contaminant	biolink:ChemicalSubstance	mondo			environmental contaminants	http://purl.obolibrary.org/obo/CHEBI_78298	Any minor or unwanted substance introduced into the environment that can have undesired effects.	
HGNC:3036	DSC2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3036		
MONDO:0023510	Jaffer-Beighton syndrome	biolink:Disease	mondo	UMLS:C2931533|MESH:C537561|GARD:0003040	gard_rare	arachnodactyly, joint laxity, and spondylolisthesis|Jaffer Beighton syndrome	http://purl.obolibrary.org/obo/MONDO_0023510		MESH:C537561|UMLS:C2931533
MONDO:0023513	Jeune syndrome situs inversus	biolink:Disease	mondo	GARD:0000303|UMLS:C2931535|MESH:C537572	n_of_one|gard_rare		http://purl.obolibrary.org/obo/MONDO_0023513		MESH:C537572|UMLS:C2931535
MONDO:0011526	obsolete Sebastian syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0011526		
MONDO:0011525	Carney complex type 2	biolink:Disease	mondo	OMIM:605244		CNC2|Carney complex, type 2; CNC2|Carney Myxoma-endocrine Complex, type 2|Carney complex, type 2	http://purl.obolibrary.org/obo/MONDO_0011525		http://identifiers.org/omim/605244
MONDO:0011528	hyper-IgM syndrome type 2	biolink:Disease	mondo	Orphanet:101089|GARD:0010578|ICD10:D80.5|SCTID:403836001|OMIM:605258|NCIT:C129074|DOID:0060758	gard_rare|ordo_clinical_subtype	immunodeficiency with hyper IgM type 2|immunodeficiency with hyper-IgM, type 2|hyper-IgM syndrome caused by mutation in AICDA|immunodeficiency with hyper-IgM, type 2; HIGM2|aid deficiency|hyper-IgM syndrome 2|immunodeficiency with hyper-IgM type 2|hyper-IgM syndrome type 2|activation-induced cytidine deaminase deficiency|hyper IgM syndrome 2|HIGM2|AICDA hyper-IgM syndrome|Activation-induced cytidine deaminase deficiency	http://purl.obolibrary.org/obo/MONDO_0011528	A hyper-IgM syndrome characterized by the absence of immunoglobulin class switch recombination, the lack of immunoglobulin somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centers.	NCIT:C129074|http://identifiers.org/omim/605258|ORPHA:101089|SNOMEDCT:403836001|DOID:0060758
MONDO:0011527	Charcot-Marie-Tooth disease type 4E	biolink:Disease	mondo	DOID:0110195|MESH:C535301|SCTID:763135001|GARD:0006170|ICD10:G60.0|OMIM:605253|GARD:0009203|Orphanet:99951	gard_rare|ordo_disease	congenital hypomyelinating neuropathy (CHN)|NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE; CHN1|Charcot-Marie-Tooth neuropathy, type 4E|autosomal recessive congenital hypomyelinating or amyelinating neuropathy|neuropathy, congenital hypomyelinating or AMYELINATING, autosomal recessive; CHN|Charcot-Marie-Tooth neuropathy type 4E|hypomyelination, Severe congenital|neuropathy, congenital hypomyelinating, autosomal dominant|congenital hypomyelination neuropathy|CMT4E|neuropathy, congenital hypomyelinating, 1|Charcot-Marie-Tooth disease, type 4E|autosomal recessive congenital hypomyelinating neuropathy|neuropathy, congenital hypomyelinating or AMYELINATING, autosomal recessive|Charcot-Marie-Tooth disease type 4E|CHN|neuropathy, congenital hypomyelinating|Charcot Marie Tooth disease type 4E|CMT 4E	http://purl.obolibrary.org/obo/MONDO_0011527	Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity.	ORPHA:99951|MESH:C535301|DOID:0110195|http://identifiers.org/omim/605253|SNOMEDCT:763135001
MONDO:0011529	spinocerebellar ataxia type 13	biolink:Disease	mondo	OMIM:605259|SCTID:719209002|GARD:0009611|UMLS:C4304884|DOID:0050963|Orphanet:98768|ICD10:G11.2|MESH:C537195|UMLS:C1854488	ordo_disease	SCA13|autosomal dominant cerebellar ataxia with intellectual disability|spinocerebellar ataxia 13; SCA13|cerebellar ataxia, autosomal dominant with intellectual disability|cerebellar ataxia, autosomal dominant with mental retardation|spinocerebellar ataxia 13|autosomal dominant cerebellar ataxia with mental retardation|spinocerebellar ataxia type 13	http://purl.obolibrary.org/obo/MONDO_0011529	Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.	MESH:C537195|ORPHA:98768|UMLS:C4304884|http://identifiers.org/omim/605259|DOID:0050963|UMLS:C1854488|SNOMEDCT:719209002
UBERON:0034944	zone of organ	biolink:AnatomicalEntity	mondo			organ zonal region|organ zone|organ sector|organ region with floating fiat boundary	http://purl.obolibrary.org/obo/UBERON_0034944		
MONDO:0011531	Noonan syndrome 2	biolink:Disease	mondo	MESH:C548081|DOID:0060580|OMIM:605275|GARD:0010698|UMLS:C1854469	gard_rare	Noonan syndrome type 2|autosomal recessive Noonan syndrome|Noonan syndrome autosomal recessive|Noonan syndrome, autosomal recessive|NS2|Noonan syndrome 2|Noonan syndrome 2; NS2	http://purl.obolibrary.org/obo/MONDO_0011531		MESH:C548081|http://identifiers.org/omim/605275|UMLS:C1854469|DOID:0060580
MONDO:0011530	mesomelic dysplasia, Savarirayan type	biolink:Disease	mondo	GARD:0010584|UMLS:C1854470|ICD10:Q78.8|OMIM:605274|SCTID:715652002|Orphanet:85170|MESH:C565349	ordo_malformation_syndrome|gard_rare	mesomelic dysplasia Savarirayan type|triangular tibia-fibular aplasia syndrome|mesomelic dysplasia, Savarirayan type|triangular tibia and fibular aplasia|mesomelic dysplasia with absent fibulas and triangular tibias	http://purl.obolibrary.org/obo/MONDO_0011530	Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported.	MESH:C565349|http://identifiers.org/omim/605274|UMLS:C1854470|ORPHA:85170|SNOMEDCT:715652002
MONDO:0011533	temtamy preaxial brachydactyly syndrome	biolink:Disease	mondo	OMIM:605282|ICD10:Q87.2|Orphanet:363417|GARD:0009679|UMLS:C1854466|DOID:0050814|MESH:C536958	gard_rare|ordo_malformation_syndrome	preaxial brachydactyly syndrome, TEMTAMY type|preaxial brachydactyly syndrome, Temtamy type|TEMTAMY preaxial brachydactyly syndrome; TPBS|temtamy preaxial brachydactyly syndrome|intellectual disability syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies|TPBS|mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies	http://purl.obolibrary.org/obo/MONDO_0011533	An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene.	DOID:0050814|http://identifiers.org/omim/605282|MESH:C536958|UMLS:C1854466|ORPHA:363417
MONDO:0011532	hereditary spastic paraplegia 13	biolink:Disease	mondo	ICD10:G11.4|MESH:C537485|DOID:0110766|Orphanet:100994|GARD:0009616|UMLS:C1854467|OMIM:605280	ordo_disease	HSPD1 hereditary spastic paraplegia|autosomal dominant spastic paraplegia 13|spastic paraplegia 13, autosomal dominant; SPG13|hereditary spastic paraplegia type 13|hereditary spastic paraplegia caused by mutation in HSPD1|SPG13|spastic paraplegia 13|autosomal dominant spastic paraplegia type 13|spastic paraplegia 13, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0011532	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the HSPD1 gene.	http://identifiers.org/omim/605280|UMLS:C1854467|DOID:0110766|ORPHA:100994|MESH:C537485
UBERON:0034947	gas in respiratory system	biolink:AnatomicalEntity	mondo			respiratory system gas|respiratory gas	http://purl.obolibrary.org/obo/UBERON_0034947	Any portion of gas located in a part of the respiratory system.	
MONDO:0011535	split hand-foot malformation 4	biolink:Disease	mondo	OMIM:605289|DOID:0090023|MESH:C565344|ICD10:Q71.6		split hand-foot malformation type 4|split hand-foot malformation caused by mutation in TP63|split-hand/foot malformation 4; SHFM4|SHFM4|split-hand/foot malformation 4|TP63 split hand-foot malformation|split-hand/foot malformation type 4	http://purl.obolibrary.org/obo/MONDO_0011535	Any split hand-foot malformation in which the cause of the disease is a mutation in the TP63 gene.	MESH:C565344|DOID:0090023|http://identifiers.org/omim/605289
MONDO:0011534	Charcot-Marie-Tooth disease type 4G	biolink:Disease	mondo	OMIM:605285|Orphanet:99953|ICD10:G60.0|UMLS:C1854449|GARD:0010132|SCTID:715799004|DOID:0110196|MESH:C535813	ordo_disease	neuropathy, hereditary motor and sensory, Russe type; HMSNR|Charcot-Marie-Tooth disease, type 4G|Charcot-Marie-Tooth disease, autosomal recessive, type 4G|Charcot-Marie-Tooth neuropathy type 4G|CMT4G|Charcot-Marie-Tooth disease type 4 caused by mutation in HK1|HMSNR|hereditary motor and sensory neuropathy Russe type|neuropathy, hereditary motor and sensory, Russe type|autosomal recessive Charcot-Marie-Tooth disease type 4G|Charcot-Marie-Tooth neuropathy, type 4G|HK1 Charcot-Marie-Tooth disease type 4|hereditary motor and sensory neuropathy, Russe type	http://purl.obolibrary.org/obo/MONDO_0011534	Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies.	ORPHA:99953|DOID:0110196|http://identifiers.org/omim/605285|UMLS:C1854449|MESH:C535813|SNOMEDCT:715799004
HGNC:3049	DSG2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3049		
HGNC:3048	DSG1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3048		
MONDO:0011515	obsolete papillary renal cell carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0011515		
MONDO:0011514	tricuspid atresia (disease)	biolink:Disease	mondo	ICD10:Q22.4|MedDRA:10049767|MESH:D018785|OMIM:605067|DOID:0080169|GARD:0005274|SCTID:63042009|HP:0011662|UMLS:C0243002|NCIT:C85202|Orphanet:1209	ordo_morphological_anomaly	tricuspid atresia|tricuspid valve atresia|congenital agenesis of the tricuspid valve|congenital atresia of tricuspid valve	http://purl.obolibrary.org/obo/MONDO_0011514	Tricuspid atresia is (TA) a rare congenital heart malformation characterized by the congenital agenesis of tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular). TA is associated with normally related or transposed great vessels (TGV), an obligatory interatrial connection that is crucial for survival (patent foramen ovale or atrial septal defect, osteum secondum type), ventricular septal defect (in 90% cases), pulmonary outflow obstruction - pulmonary atresia, stenosis or hypoplasia (usually in TA with normally related vessels but also in TGV), aortic coarctation and/or aortic arch interruption (usually in TA with TGV).	SNOMEDCT:63042009|MEDDRA:10049767|DOID:0080169|ORPHA:1209|http://identifiers.org/omim/605067|NCIT:C85202|MESH:D018785|UMLS:C0243002
MONDO:0011517	pseudohyperaldosteronism type 2	biolink:Disease	mondo	Orphanet:88660|UMLS:C1854631|MESH:C565359|OMIM:605115|SCTID:766937004|ICD10:I15.1	ordo_disease	hypertension due to gain-of-function mutations in the mineralocorticoid receptor|hypertension, early-onset, autosomal dominant, with Severe exacerbation in pregnancy|hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy|early-onset hypertension with exacerbation in pregnancy	http://purl.obolibrary.org/obo/MONDO_0011517	Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery.	ORPHA:88660|MESH:C565359|http://identifiers.org/omim/605115|UMLS:C1854631|SNOMEDCT:766937004
MONDO:0011516	early response to neural induction gene	biolink:Disease	mondo	OMIM:605105		Erni|early response to neural induction gene	http://purl.obolibrary.org/obo/MONDO_0011516		http://identifiers.org/omim/605105
MONDO:0011519	autosomal dominant nonsyndromic deafness 23	biolink:Disease	mondo	ICD10:H90.3|MESH:C565357|UMLS:C1854594|OMIM:605192|DOID:0110553|GARD:0001708		autosomal dominant nonsyndromic deafness caused by mutation in SIX1|autosomal dominant nonsyndromic deafness type 23|deafness, autosomal dominant nonsyndromic sensorineural 23|deafness, autosomal dominant 23; DFNA23|deafness, autosomal dominant 23|SIX1 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant type 23|autosomal dominant deafness 23|DFNA 23|DFNA23	http://purl.obolibrary.org/obo/MONDO_0011519	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SIX1 gene.	MESH:C565357|http://identifiers.org/omim/605192|UMLS:C1854594|DOID:0110553
MONDO:0011518	Wiedemann-Steiner syndrome	biolink:Disease	mondo	ICD10:Q87.1|MESH:C536704|Orphanet:319182|GARD:0005565|OMIM:605130	gard_rare|ordo_malformation_syndrome	hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome|A syndrome of abnormal facies, short stature, and psychomotor retardation|Wiedemann-Steiner syndrome; WDSTS|hairy elbows, short stature, Facial Dysmorphism, and developmental delay|Wiedemann-Steiner syndrome|WDSTS|Wiedemann Grosse Dibbern syndrome	http://purl.obolibrary.org/obo/MONDO_0011518	Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language.	ORPHA:319182|MESH:C536704|http://identifiers.org/omim/605130
UBERON:0034953	embryonic lymph sac	biolink:AnatomicalEntity	mondo			primary lymph sac	http://purl.obolibrary.org/obo/UBERON_0034953	A population of lymphatic endothelial cell precursors that will form the lymph vessels.	
HGNC:3054	DSPP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3054		
MONDO:0011520	systemic lupus erythematosus, susceptibility to, 2	biolink:Disease	mondo	OMIM:605218|UMLS:C1854577	predisposition	systemic lupus erythematosus, susceptibility to, type 2|SLEB2|susceptibility to systemic lupus erythematosus 2|systemic lupus erythematosus, susceptibility to, 2; SLEB2|systemic lupus erythematosus, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0011520		http://identifiers.org/omim/605218|UMLS:C1854577
HGNC:3052	DSP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3052		
MONDO:0011522	hereditary spastic paraplegia 14	biolink:Disease	mondo	DOID:0110767|MESH:C537486|Orphanet:100995|ICD10:G11.4|UMLS:C1854568|OMIM:605229|GARD:0009589	ordo_disease	spastic paraplegia 14|autosomal recessive spastic paraplegia type 14|hereditary spastic paraplegia type 14|autosomal recessive spastic paraplegia 14|SPG14|spastic paraplegia 14, autosomal recessive|spastic paraplegia 14, autosomal recessive; SPG14	http://purl.obolibrary.org/obo/MONDO_0011522	A hereditary spastic paraplegia that has material basis in variation in the chromosome region 3q27-q28.	MESH:C537486|http://identifiers.org/omim/605229|UMLS:C1854568|DOID:0110767|ORPHA:100995
MONDO:0011521	inflammatory bowel disease 7	biolink:Disease	mondo	MESH:C565353|OMIM:605225|DOID:0110882|UMLS:C1854573		inflammatory bowel disease 7; IBD7|inflammatory bowel disease 7|IBD7|inflammatory bowel disease type 7	http://purl.obolibrary.org/obo/MONDO_0011521	An inflammatory bowel disease that has material basis in variation in the chromosome region 1p36.	MESH:C565353|http://identifiers.org/omim/605225|UMLS:C1854573|DOID:0110882
MONDO:0011524	Dianzani autoimmune lymphoproliferative disease	biolink:Disease	mondo	Orphanet:275523|ICD10:D47.9|OMIM:605233|MESH:C535950|SCTID:721093000|UMLS:C2931071|GARD:0009797	ordo_disease	Dianzani autoimmune lymphoproliferative syndrome|Dianzani autoimmune lymphoproliferative disease|Dianzani form of autoimmune lymphoproliferative disease|autoimmune lymphoproliferative syndrome without FAS mutations|DALD	http://purl.obolibrary.org/obo/MONDO_0011524	Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly.	http://identifiers.org/omim/605233|UMLS:C2931071|MESH:C535950|ORPHA:275523|SNOMEDCT:721093000
MONDO:0011523	Bardet-Biedl syndrome 6	biolink:Disease	mondo	UMLS:C1858054|ICD10:Q87.89|DOID:0110128|OMIM:605231|MESH:C565738|GARD:0010205	gard_rare	BBS6|Bardet-Biedl syndrome 6|Bardet-Biedl syndrome 6; BBS6|Bardet-Biedl syndrome type 6	http://purl.obolibrary.org/obo/MONDO_0011523		DOID:0110128|http://identifiers.org/omim/605231|MESH:C565738|UMLS:C1858054
HGNC:3057	DTNA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3057		
MONDO:0011504	NDE1-related microhydranencephaly	biolink:Disease	mondo	Orphanet:443162|GARD:0010216|UMLS:C1857977|OMIM:605013|MESH:C537555|ICD10:Q04.8	ordo_malformation_syndrome	microhydranencephaly|microhydranencephaly; MHAC|MHAC|hydranencephaly and microcephaly	http://purl.obolibrary.org/obo/MONDO_0011504	NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.	ORPHA:443162|MESH:C537555|UMLS:C1857977|http://identifiers.org/omim/605013
MONDO:0011503	cortisone reductase deficiency 1	biolink:Disease	mondo	UMLS:C3551716|NCIT:C131849|OMIM:604931|DOID:0090141		H6PD cortisone reductase deficiency|cortisone reductase deficiency 1; CORTRD1|CORTRD1|cortisone reductase deficiency 1|hexose-6-phosphate dehydrogenase deficiency|cortisone reductase deficiency caused by mutation in H6PD|cortisone reductase deficiency type 1|apparent cortisone reductase deficiency	http://purl.obolibrary.org/obo/MONDO_0011503	Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency.	UMLS:C3551716|DOID:0090141|NCIT:C131849|http://identifiers.org/omim/604931
UBERON:0007391	pelvic appendage cartilage tissue	biolink:AnatomicalEntity	mondo			pelvic fin cartilage	http://purl.obolibrary.org/obo/UBERON_0007391	A cartilage tissue that is part of a pelvic appendage.	
MONDO:0011506	familial infantile myoclonic epilepsy	biolink:Disease	mondo	Orphanet:352582|ICD10:G40.3|OMIM:605021|UMLS:C0917800	ordo_disease	myoclonic epilepsy, familial infantile|FIME|familial infantile myoclonus epilepsy|myoclonic epilepsy, familial infantile; FIME|Eim	http://purl.obolibrary.org/obo/MONDO_0011506		ORPHA:352582|UMLS:C0917800|http://identifiers.org/omim/605021
UBERON:0007390	pectoral appendage cartilage tissue	biolink:AnatomicalEntity	mondo			pectoral fin cartilage	http://purl.obolibrary.org/obo/UBERON_0007390	A cartilage tissue that is part of a pectoral appendage.	
MONDO:0011505	familial hypobetalipoproteinemia 2	biolink:Disease	mondo	OMIM:605019|MESH:C565732|UMLS:C1857970|DOID:0111061		hypobetalipoproteinemia, familial, 2|hypobetalipoproteinemia, familial, 2; FHBL2|combined familial hypolipidemia|hypobetalipoproteinemia caused by mutation in ANGPTL3|hypolipidemia, familial, combined|FHBL2|familial hypobetalipoproteinemia type 2|hypobetalipoproteinemia, familial, type 2|ANGPTL3 hypobetalipoproteinemia	http://purl.obolibrary.org/obo/MONDO_0011505	Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the ANGPTL3 gene.	DOID:0111061|UMLS:C1857970|http://identifiers.org/omim/605019|MESH:C565732
MONDO:0011508	lymphoma, non-Hodgkin, familial	biolink:Disease	mondo	ICD9:202.80|SCTID:118601006|OMIM:605027		non-Hodgkin lymphoma|lymphoma, non-Hodgkin, familial	http://purl.obolibrary.org/obo/MONDO_0011508		http://identifiers.org/omim/605027|SNOMEDCT:118601006
UBERON:0034971	aortic body	biolink:AnatomicalEntity	mondo			aortic glands|aortic bodies|Zuckerkandl's body	http://purl.obolibrary.org/obo/UBERON_0034971	one of several small clusters of chemoreceptors, baroreceptors, and supporting cells located along the aortic arch.	
UBERON:0034972	jugular body	biolink:AnatomicalEntity	mondo			jugulotympanic body|glomus tympanicum|tympanic body|glomus jugulare	http://purl.obolibrary.org/obo/UBERON_0034972	A nonchromaffin paraganglion located in the wall of the jugular bulb.	
MONDO:0011507	diabetes mellitus, congenital autoimmune	biolink:Disease	mondo	MESH:C565730|UMLS:C1857958|OMIM:605026		diabetes mellitus, congenital autoimmune	http://purl.obolibrary.org/obo/MONDO_0011507		UMLS:C1857958|http://identifiers.org/omim/605026|MESH:C565730
MONDO:0011509	low density lipoprotein cholesterol, mild elevation of	biolink:Disease	mondo	OMIM:605028		low density lipoprotein cholesterol, mild elevation of|Ldlc, mild elevation of	http://purl.obolibrary.org/obo/MONDO_0011509		http://identifiers.org/omim/605028
MONDO:0011511	clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia	biolink:Disease	mondo	OMIM:605040|UMLS:C1857942|MESH:C565729		clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia|Chzam	http://purl.obolibrary.org/obo/MONDO_0011511		UMLS:C1857942|http://identifiers.org/omim/605040|MESH:C565729
MONDO:0011510	Bohring-Opitz syndrome	biolink:Disease	mondo	MESH:C537419|ICD10:Q87.8|UMLS:C0796232|SCTID:720565000|OMIM:605039|GARD:0010140|NCIT:C131533|Orphanet:97297	ordo_malformation_syndrome|gard_rare	C-like syndrome|Opitz trigonocephaly-like syndrome|Bohring-Opitz syndrome|Bos syndrome|Oberklaid-Danks syndrome|C-like syndrome|Opitz trigonocephaly-like syndrome|Bohring syndrome|BOHRING-Opitz syndrome; BOPS|BOPS	http://purl.obolibrary.org/obo/MONDO_0011510	Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported.	MESH:C537419|ORPHA:97297|http://identifiers.org/omim/605039|NCIT:C131533|SNOMEDCT:720565000|UMLS:C0796232
UBERON:0034969	epithelial layer of duct	biolink:AnatomicalEntity	mondo			ductal epithelium|duct epithelium	http://purl.obolibrary.org/obo/UBERON_0034969		
MONDO:0011513	Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology	biolink:Disease	mondo	UMLS:C1857933|MESH:C565728|OMIM:605055		Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology	http://purl.obolibrary.org/obo/MONDO_0011513		UMLS:C1857933|http://identifiers.org/omim/605055|MESH:C565728
MONDO:0011512	Brooke-Spiegler syndrome	biolink:Disease	mondo	UMLS:C1857941|SCTID:703531009|GARD:0010179|ICD9:239.2|DOID:0050693|Orphanet:79493|OMIM:605041	ordo_disease	Brooke-Spiegler syndrome; BRSS|BRSS|Spiegler-Brooke syndrome|Bss|Brooke-Spiegler syndrome|CYLD cutaneous syndrome	http://purl.obolibrary.org/obo/MONDO_0011512	Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. A minority of patients can also get major and minor salivary glands neoplasms, usually membranous basal cell adenoma.	UMLS:C1857941|DOID:0050693|http://identifiers.org/omim/605041|ORPHA:79493|SNOMEDCT:703531009
UBERON:0034980	jugular bulb	biolink:AnatomicalEntity	mondo			bulb of jugular vein	http://purl.obolibrary.org/obo/UBERON_0034980		
UBERON:0007389	paired limb/fin cartilage	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0007389	A cartilage tissue that is part of a paired limb or fin.	
UBERON:0034978	paraganglion (generic)	biolink:AnatomicalEntity	mondo			paraganglia	http://purl.obolibrary.org/obo/UBERON_0034978	A cluster of neuroendocrine cells derived from neural crest. Paraganglia may be chromaffin or nonchromaffin	
UBERON:0007386	pelvic appendage lymph vessel	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0007386	A lymphatic vessel that is part of a pelvic appendage.	
MONDO:0011500	Becker nevus syndrome	biolink:Disease	mondo	MESH:C565735|GARD:0003856|Orphanet:64755|UMLS:C1858042|OMIM:604919|ICD10:D22.5	ordo_disease|gard_rare	pigmentary hairy epidermal nevus|Becker nevus syndrome|hairy epidermal nevus syndrome	http://purl.obolibrary.org/obo/MONDO_0011500	Becker nevus syndrome is characterized by the presence of a Becker nevus in association withunderdevelopment (hypoplasia)of the breast or other skin-related, muscular, or skeletal defects, all of which usually involve the same side of the bodyas the nevus (ipsilateral). Specific signs and symptoms in addition to the nevus may include ipsilateral breast hypoplasia;skeletal abnormalities such ashypoplasia of the shoulder girdle, scoliosis, fused ribs, and ipsilateral shortness of the arm; and several other features. Thecondition is thought to be sporadic (occurring in individuals with no history of the condition in the family). Treatment varies depending upon the specific symptoms present and the extent of the condition in the affected individual.	MESH:C565735|http://identifiers.org/omim/604919|UMLS:C1858042|ORPHA:64755
UBERON:0007385	pectoral appendage lymph vessel	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0007385	A lymphatic vessel that is part of a pectoral appendage.	
UBERON:0034979	nonchromaffin paraganglion	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0034979	A cluster of chemoreceptive and support cells associated with blood vessels and nerves.	
UBERON:0007384	appendage lymph vessel	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0007384	A lymphatic vessel that is part of a limb/fin.	
HGNC:3072	DUSP6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/3072		
MONDO:0011502	Wolfram syndrome 2	biolink:Disease	mondo	OMIM:604928|ICD10:E13.8|MESH:C565733|UMLS:C1858028|DOID:0110630		Wolfram syndrome 2|CISD2 Wolfram syndrome|WFS2|Wolfram syndrome type 2|WOLFRAM syndrome 2; WFS2|Wolfram syndrome caused by mutation in CISD2	http://purl.obolibrary.org/obo/MONDO_0011502	Any Wolfram syndrome in which the cause of the disease is a mutation in the CISD2 gene.	UMLS:C1858028|MESH:C565733|DOID:0110630|http://identifiers.org/omim/604928
UBERON:0007383	enveloping layer of ectoderm	biolink:AnatomicalEntity	mondo			enveloping layer|EVL	http://purl.obolibrary.org/obo/UBERON_0007383	Outermost layer of cells surrounding the embryo.	
MONDO:0011501	wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia	biolink:Disease	mondo	GARD:0010290|MESH:C565734|UMLS:C1858032|OMIM:604922|ICD10:Q78.8|Orphanet:166277	gard_rare|ordo_malformation_syndrome	cortical defects, WORMIAN bones, and dentinogenesis imperfecta|cortical defects wormian bones and dentinogenesis imperfecta|Suarez-Stickler syndrome	http://purl.obolibrary.org/obo/MONDO_0011501	Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999.	UMLS:C1858032|ORPHA:166277|MESH:C565734|http://identifiers.org/omim/604922
CHEBI:17272	propionate	biolink:ChemicalSubstance	mondo			metacetonate|propanoic acid, ion(1-)|propanoate|pseudoacetate|EtCO2 anion|methylacetate|propanate|ethylformate|propionate|carboxylatoethane|CH3-CH2-COO(-)|ethanecarboxylate|propanoate	http://purl.obolibrary.org/obo/CHEBI_17272	The conjugate base of propionic acid; a key precursor in lipid biosynthesis.	
GO:0005976	polysaccharide metabolic process	biolink:OntologyClass	mondo			glycan metabolic process|glycan metabolism|polysaccharide metabolism|multicellular organismal polysaccharide metabolic process	http://purl.obolibrary.org/obo/GO_0005976	The chemical reactions and pathways involving a polysaccharide, a polymer of many (typically more than 10) monosaccharide residues linked glycosidically.	
GO:0005977	glycogen metabolic process	biolink:OntologyClass	mondo			glycogen metabolism	http://purl.obolibrary.org/obo/GO_0005977	The chemical reactions and pathways involving glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues in alpha-(1->4) glycosidic linkage, joined together by alpha-(1->6) glycosidic linkages.	
GO:0005975	carbohydrate metabolic process	biolink:OntologyClass	mondo			multicellular organismal carbohydrate metabolic process|single-organism carbohydrate metabolic process|carbohydrate metabolism	http://purl.obolibrary.org/obo/GO_0005975	The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule.	
GO:0030936	transmembrane collagen trimer	biolink:OntologyClass	mondo			MACIT	http://purl.obolibrary.org/obo/GO_0030936	Any collagen trimer that passes through a lipid bilayer membrane.	
HP:0000077	Abnormality of the kidney	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:90708001|MSH:D007674|SNOMEDCT_US:44513007|UMLS:C0022658|UMLS:C0266292		Abnormal kidney|Renal anomaly|Renal anomalies|Abnormality of the kidney	http://purl.obolibrary.org/obo/HP_0000077	An abnormality of the kidney.	
HP:0000079	Abnormality of the urinary system	biolink:PhenotypicFeature	mondo	UMLS:C4021821		Urinary tract abnormality|Urinary tract abnormalities|Urinary tract anomalies	http://purl.obolibrary.org/obo/HP_0000079	An abnormality of the urinary system.	
HP:0000078	Abnormality of the genital system	biolink:PhenotypicFeature	mondo	UMLS:C0281966|UMLS:C0744356		Genital defects|Genital anomalies|Abnormality of the reproductive system|Genital abnormality|Genital abnormalities	http://purl.obolibrary.org/obo/HP_0000078	An abnormality of the genital system.	
UBERON:0007418	neural decussation	biolink:AnatomicalEntity	mondo			chiasm|decussation|neuraxis decussation|neuraxis chiasm|decussation of neuraxis|neuraxis chiasma|chiasma	http://purl.obolibrary.org/obo/UBERON_0007418	Nerve fibers crossing the midline of the neuraxis relative to their point of origin, on a course to from one level of the nervous system to another. (CUMBO, Heimer, L. The Human Brain, 2nd ed., 1995, pg 6)	
HP:0000071	Ureteral stenosis	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:95574003|UMLS:C0521618		Narrowing of the ureter	http://purl.obolibrary.org/obo/HP_0000071	The presence of a stenotic, i.e., constricted ureter.	
UBERON:0007414	nucleus of midbrain tegmentum	biolink:AnatomicalEntity	mondo			tegmental nuclei|tegmental nucleus	http://purl.obolibrary.org/obo/UBERON_0007414	A nucleus of brain that spans a midbrain tegmentum.	
HP:0000074	Ureteropelvic junction obstruction	biolink:PhenotypicFeature	mondo	UMLS:C0521619|SNOMEDCT_US:95575002|MSH:C537373		Pelviureteric junction obstruction	http://purl.obolibrary.org/obo/HP_0000074	Blockage of urine flow from the renal pelvis to the proximal ureter.	
NCBITaxon:5478	[Candida] glabrata	organism taxon	mondo	PMID:14654427|GC_ID:1		Candida glabrata|Cryptococcus glabratus|Torulopsis glabrata	http://purl.obolibrary.org/obo/NCBITaxon_5478		
GO:0005984	disaccharide metabolic process	biolink:OntologyClass	mondo			disaccharide metabolism	http://purl.obolibrary.org/obo/GO_0005984	The chemical reactions and pathways involving any disaccharide, sugars composed of two monosaccharide units.	
HP:0000080	Abnormality of reproductive system physiology	biolink:PhenotypicFeature	mondo	UMLS:C4021820|UMLS:C4020896		Genital functional abnormality|Abnormality of genital physiology|Abnormality of reproductive system physiology	http://purl.obolibrary.org/obo/HP_0000080	An abnormal functionality of the genital system.	
HP:0000083	Renal insufficiency	biolink:PhenotypicFeature	mondo	UMLS:C1565489|MSH:D051437|UMLS:C0035078|SNOMEDCT_US:42399005|UMLS:C1839604|SNOMEDCT_US:236423003		Renal failure|Renal failure in adulthood	http://purl.obolibrary.org/obo/HP_0000083	A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.	
HP:0000050	Hypoplastic male external genitalia	biolink:PhenotypicFeature	mondo	UMLS:C1852534		Hypoplastic male genitalia|Small male external genitalia|Underdeveloped male genitalia	http://purl.obolibrary.org/obo/HP_0000050	Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra).	
GO:0030901	midbrain development	biolink:OntologyClass	mondo			mesencephalon development	http://purl.obolibrary.org/obo/GO_0030901	The process whose specific outcome is the progression of the midbrain over time, from its formation to the mature structure. The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles).	
GO:0005967	mitochondrial pyruvate dehydrogenase complex	biolink:OntologyClass	mondo			pyruvate dehydrogenase complex (lipoamide)	http://purl.obolibrary.org/obo/GO_0005967	Complex that carries out the oxidative decarboxylation of pyruvate to form acetyl-CoA in eukaryotes; includes subunits possessing three catalytic activities: pyruvate dehydrogenase (E1), dihydrolipoamide S-acetyltransferase (E2), and dihydrolipoamide dehydrogenase (E3). The This Eukaryotic form usually contains more subunits than its bacterial counterpart; for example, one known complex contains 30 E1 dimers, 60 E2 monomers, and 6 E3 dimers as well as a few copies of pyruvate dehydrogenase kinase and pyruvate dehydrogenase phosphatase.	
HP:0000069	Abnormality of the ureter	biolink:PhenotypicFeature	mondo	UMLS:C1840382		Ureter issue|Abnormality of the ureters|Ureteral anomalies	http://purl.obolibrary.org/obo/HP_0000069	An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.	
CHEBI:29214	sulfonic acid	biolink:ChemicalSubstance	mondo			HSHO3|sulfonic acid|hydridohydroxidodioxidosulfur|Sulfonsaeure|acide sulfonique|sulphonic acid|[SHO2(OH)]	http://purl.obolibrary.org/obo/CHEBI_29214		
CHEBI:32863	secondary amine	biolink:ChemicalSubstance	mondo			R2NH|sekundaeres Amin|secondary amines|Secondary amine	http://purl.obolibrary.org/obo/CHEBI_32863	A compound formally derived from ammonia by replacing two hydrogen atoms by hydrocarbyl groups.	
GO:0005938	cell cortex	biolink:OntologyClass	mondo			cell periphery|peripheral cytoplasm	http://purl.obolibrary.org/obo/GO_0005938	The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins.	
CHEBI:30217	helium atom	biolink:ChemicalSubstance	mondo			helium|helio|Helium|helium|2He|He	http://purl.obolibrary.org/obo/CHEBI_30217		
CHEBI:32876	tertiary amine	biolink:ChemicalSubstance	mondo			tertiary amines|R3N|Tertiary amine|tertiaeres Amin	http://purl.obolibrary.org/obo/CHEBI_32876	A compound formally derived from ammonia by replacing three hydrogen atoms by hydrocarbyl groups.	
HP:0012091	Abnormality of pancreas physiology	biolink:PhenotypicFeature	mondo	UMLS:C4023048			http://purl.obolibrary.org/obo/HP_0012091	An anomaly of the function of the pancreas.	
CHEBI:32877	primary amine	biolink:ChemicalSubstance	mondo			Primary monoamine|primary amines|RCH2NH2|R-NH2|primaeres Amin|Primary amine	http://purl.obolibrary.org/obo/CHEBI_32877	A compound formally derived from ammonia by replacing one hydrogen atom by a hydrocarbyl group.	
HP:0012093	Abnormality of endocrine pancreas physiology	biolink:PhenotypicFeature	mondo	UMLS:C4023047			http://purl.obolibrary.org/obo/HP_0012093	A function abnormality of the endocrine pancreas.	
GO:0005911	cell-cell junction	biolink:OntologyClass	mondo			intercellular junction	http://purl.obolibrary.org/obo/GO_0005911	A cell junction that forms a connection between two or more cells in a multicellular organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects.	
GO:0042981	regulation of apoptotic process	biolink:OntologyClass	mondo			apoptosis regulator activity|regulation of apoptosis	http://purl.obolibrary.org/obo/GO_0042981	Any process that modulates the occurrence or rate of cell death by apoptotic process.	
HP:0000099	Glomerulonephritis	biolink:PhenotypicFeature	mondo	UMLS:C0017658|SNOMEDCT_US:36171008|MSH:D005921		Glomerular nephritis	http://purl.obolibrary.org/obo/HP_0000099	Inflammation of the renal glomeruli.	
HP:0000098	Tall stature	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:248328003|UMLS:C0241240		Accelerated linear growth|Tall stature|Increased linear growth|Increased body height	http://purl.obolibrary.org/obo/HP_0000098	A height above that which is expected according to age and gender norms.	
HP:0000090	Nephronophthisis	biolink:PhenotypicFeature	mondo	UMLS:C0687120|SNOMEDCT_US:204958008		juvenile nephronophthisis	http://purl.obolibrary.org/obo/HP_0000090	Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis.	
NCBITaxon:5498	Cladosporium	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_5498		
HP:0000093	Proteinuria	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:29738008|MSH:D011507|UMLS:C0033687		High urine protein levels|Protein in urine	http://purl.obolibrary.org/obo/HP_0000093	Increased levels of protein in the urine.	
CHEBI:17245	carbon monoxide	biolink:ChemicalSubstance	mondo			Carbon monoxide|CARBON MONOXIDE|carbon monoxide|CO|[CO]|carbon(II) oxide|carbon monooxide|C#O	http://purl.obolibrary.org/obo/CHEBI_17245	A one-carbon compound in which the carbon is joined only to a single oxygen. It is a colourless, odourless, tasteless, toxic gas.	
HP:0000095	Abnormal renal glomerulus morphology	biolink:PhenotypicFeature	mondo	UMLS:C4025889		Abnormality of renal glomerulus morphology	http://purl.obolibrary.org/obo/HP_0000095	A structural anomaly of the glomerulus.	
HP:0000096	Glomerular sclerosis	biolink:PhenotypicFeature	mondo	UMLS:C0178664|SNOMEDCT_US:197661001|SNOMEDCT_US:82646005		Renal glomerular fibrosis|Glomerulosclerosis	http://purl.obolibrary.org/obo/HP_0000096	Accumulation of scar tissue within the glomerulus.	
CHEBI:29202	isocyanic acid	biolink:ChemicalSubstance	mondo			HNCO|isozyansaeure|isocyanic acid|HN=C=O|[C(NH)O]|hydrogen isocyanate|isocyanate|isocyansaeure|methenamide|oxidoazanediidocarbon|carbimide|ICA	http://purl.obolibrary.org/obo/CHEBI_29202	A colourless, volatile, poisonous inorganic compound with the formula HNCO; the simplest stable chemical compound that contains carbon, hydrogen, nitrogen, and oxygen, the four most commonly-found elements in organic chemistry and biology.	
HP:0012072	Aciduria	biolink:PhenotypicFeature	mondo	UMLS:C0278026|SNOMEDCT_US:21806007		Acidic urine	http://purl.obolibrary.org/obo/HP_0012072	Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration.	
GO:0042995	cell projection	biolink:OntologyClass	mondo			cellular process|cell process|cellular projection	http://purl.obolibrary.org/obo/GO_0042995	A prolongation or process extending from a cell, e.g. a flagellum or axon.	
GO:0005929	cilium	biolink:OntologyClass	mondo			primary cilium|eukaryotic flagellum|flagellum|microtubule-based flagellum	http://purl.obolibrary.org/obo/GO_0005929	A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body.	
UBERON:0007425	decussation of diencephalon	biolink:AnatomicalEntity	mondo			diencephalon decussation	http://purl.obolibrary.org/obo/UBERON_0007425	A neural decussation that is part of a diencephalon.	
MONDO:0060578	neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	biolink:Disease	mondo	Orphanet:572798|UMLS:C4540192|OMIM:617710		neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures; NEMMLAS|NEMMLAS	http://purl.obolibrary.org/obo/MONDO_0060578		http://identifiers.org/omim/617710|UMLS:C4540192|ORPHA:572798
MONDO:0060577	neurodevelopmental disorder with microcephaly, ataxia, and seizures	biolink:Disease	mondo	UMLS:C4540188|OMIM:617709		neurodevelopmental disorder with microcephaly, ataxia, and seizures; NEDMAS|NEDMAS	http://purl.obolibrary.org/obo/MONDO_0060577		http://identifiers.org/omim/617709|UMLS:C4540188
HP:0002652	Skeletal dysplasia	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:240190009|UMLS:C4280567|MSH:D010009|UMLS:C0029422|SNOMEDCT_US:105985007		Abnormal skeletal development	http://purl.obolibrary.org/obo/HP_0002652	A general term describing features characterized by abnormal development of bones and connective tissues.	
MONDO:0060583	platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	biolink:Disease	mondo	OMIM:617718|UMLS:C4540232		PLTEID|platelet abnormalities with eosinophilia and immune-mediated inflammatory disease; PLTEID	http://purl.obolibrary.org/obo/MONDO_0060583		UMLS:C4540232|http://identifiers.org/omim/617718
HP:0002653	Bone pain	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:12584003|UMLS:C0151825		Bone pain	http://purl.obolibrary.org/obo/HP_0002653	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.	
MONDO:0060582	auditory neuropathy-optic atrophy syndrome	biolink:Disease	mondo	OMIM:617717|UMLS:C4521678|Orphanet:542585	ordo_disease	auditory neuropathy and optic atrophy|ANOA|auditory neuropathy and optic atrophy; ANOA	http://purl.obolibrary.org/obo/MONDO_0060582		UMLS:C4521678|ORPHA:542585|http://identifiers.org/omim/617717
HP:0002651	Spondyloepimetaphyseal dysplasia	biolink:PhenotypicFeature	mondo	UMLS:C0432211|SNOMEDCT_US:254062008			http://purl.obolibrary.org/obo/HP_0002651		
NCBITaxon:629	Yersinia <enterobacteria>	organism taxon	mondo	GC_ID:11		Yersinia	http://purl.obolibrary.org/obo/NCBITaxon_629		
NCBITaxon:620	Shigella	organism taxon	mondo	GC_ID:11|PMID:26834722			http://purl.obolibrary.org/obo/NCBITaxon_620		
HP:0000008	Abnormal morphology of female internal genitalia	biolink:PhenotypicFeature	mondo	UMLS:C4025900		Abnormality of female internal genitalia	http://purl.obolibrary.org/obo/HP_0000008	An abnormality of the female internal genitalia.	
HP:0000007	Autosomal recessive inheritance	biolink:PhenotypicFeature	mondo	UMLS:C4020899|SNOMEDCT_US:258211005|UMLS:C0441748		Autosomal recessive predisposition|Autosomal recessive|Autosomal recessive form	http://purl.obolibrary.org/obo/HP_0000007	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).	
MONDO:0060568	Pilarowski-Bjornsson syndrome	biolink:Disease	mondo	Orphanet:529965|UMLS:C4540131|OMIM:617682	ordo_malformation_syndrome	developmental delay and speech apraxia with or without seizures|PILBOS|Pilarowski-Bjornsson syndrome; PILBOS	http://purl.obolibrary.org/obo/MONDO_0060568		UMLS:C4540131|http://identifiers.org/omim/617682|ORPHA:529965
HP:0000009	Functional abnormality of the bladder	biolink:PhenotypicFeature	mondo	UMLS:C3806583		Poor bladder function	http://purl.obolibrary.org/obo/HP_0000009	Dysfunction of the urinary bladder.	
MONDO:0060564	helix syndrome	biolink:Disease	mondo	OMIM:617671|UMLS:C4522164		hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia|helix syndrome; helix|helix	http://purl.obolibrary.org/obo/MONDO_0060564		http://identifiers.org/omim/617671|UMLS:C4522164
NCBITaxon:621	Shigella boydii	organism taxon	mondo	PMID:16561743|GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_621		
HGNC:34399	UQCC3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/34399		
HP:0002664	Neoplasm	biolink:PhenotypicFeature	mondo	MSH:D009369|SNOMEDCT_US:363346000|UMLS:C0027651|NCIT:C3262|SNOMEDCT_US:108369006|UMLS:C0006826		Abnormal tissue mass|Oncology|Oncological abnormality|Cancer|Tumour|Tumor|Neoplasia	http://purl.obolibrary.org/obo/HP_0002664	An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour).	
HP:0000002	Abnormality of body height	biolink:PhenotypicFeature	mondo	UMLS:C4025901		Abnormality of body height	http://purl.obolibrary.org/obo/HP_0000002	Deviation from the norm of height with respect to that which is expected according to age and gender norms.	
HP:0000001	All	biolink:PhenotypicFeature	mondo	UMLS:C0444868			http://purl.obolibrary.org/obo/HP_0000001		
HP:0000006	Autosomal dominant inheritance	biolink:PhenotypicFeature	mondo	UMLS:C0443147|SNOMEDCT_US:263681008		Autosomal dominant form|Autosomal dominant|Autosomal dominant type	http://purl.obolibrary.org/obo/HP_0000006	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.	
HP:0000005	Mode of inheritance	biolink:PhenotypicFeature	mondo	UMLS:C1708511		Inheritance	http://purl.obolibrary.org/obo/HP_0000005	The pattern in which a particular genetic trait or disorder is passed from one generation to the next.	
NCBITaxon:630	Yersinia enterocolitica	organism taxon	mondo	GC_ID:11		Bacterium enterocoliticum	http://purl.obolibrary.org/obo/NCBITaxon_630		
HP:0002637	Cerebral ischemia	biolink:PhenotypicFeature	mondo	MSH:D002545|UMLS:C0917798|SNOMEDCT_US:287731003|UMLS:C0007786|SNOMEDCT_US:389100007		Brain ischemia|Disruption of blood oxygen supply to brain|Cerebrovascular ischemia	http://purl.obolibrary.org/obo/HP_0002637		
NCBITaxon:633	Yersinia pseudotuberculosis	organism taxon	mondo	GC_ID:11|PMID:2223608|PMID:23919959		Shigella pseudotuberculosis|Pasteurella lymphangitidis|Bacterium pseudotuberculosis|Bacillus pseudotuberkulosis|Pasteurella pseudotuberculosis	http://purl.obolibrary.org/obo/NCBITaxon_633		
MONDO:0060596	neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	biolink:Disease	mondo	Orphanet:528084|UMLS:C4540327|OMIM:617755	ordo_disease	NEDDFL|neurodevelopmental disorder with dysmorphic facies and distal limb anomalies; NEDDFL	http://purl.obolibrary.org/obo/MONDO_0060596		ORPHA:528084|http://identifiers.org/omim/617755|UMLS:C4540327
NCBITaxon:632	Yersinia pestis	organism taxon	mondo	GC_ID:11|PMID:15084509		Pestisella pestis|Pasteurella pestis|Yersinia pseudotuberculosis subsp. pestis|Bacillus pestis|Bacterium pestis	http://purl.obolibrary.org/obo/NCBITaxon_632		
HP:0002630	Fat malabsorption	biolink:PhenotypicFeature	mondo	UMLS:C0554103|SNOMEDCT_US:197494007			http://purl.obolibrary.org/obo/HP_0002630	Abnormality of the absorption of fat from the gastrointestinal tract.	
HP:0002633	Vasculitis	biolink:PhenotypicFeature	mondo	UMLS:C0042384|SNOMEDCT_US:31996006|MSH:D014657		Angiitis|Inflammation of blood vessel	http://purl.obolibrary.org/obo/HP_0002633	Inflammation of blood vessel.	
GO:0030990	intraciliary transport particle	biolink:OntologyClass	mondo			IFT complex|intraflagellar transport particle|intraflagellar transport complex	http://purl.obolibrary.org/obo/GO_0030990	A nonmembrane-bound oligomeric protein complex that participates in bidirectional transport of molecules (cargo) along axonemal microtubules.	
HGNC:34383	PCARE	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/34383		
NCBITaxon:423054	Eimeriorina	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_423054		
NCBITaxon:642	Aeromonas	organism taxon	mondo	GC_ID:11|PMID:12807216|PMID:7520733|PMID:1380289|PMID:17012583|PMID:17158971|PMID:19567585|PMID:16560691|PMID:12067377|PMID:8347521|PMID:8934910|PMID:1380286|PMID:11155981|PMID:15388703			http://purl.obolibrary.org/obo/NCBITaxon_642		
NCBITaxon:641	Vibrionaceae	organism taxon	mondo	PMID:8427811|PMID:15143042|PMID:4954820|GC_ID:11		gamma-3 proteobacteria	http://purl.obolibrary.org/obo/NCBITaxon_641		
MONDO:0060589	facial palsy, congenital, with ptosis and velopharyngeal dysfunction	biolink:Disease	mondo	UMLS:C4540277|OMIM:617732		FPVEPD|facial palsy, congenital, with ptosis and velopharyngeal dysfunction; FPVEPD	http://purl.obolibrary.org/obo/MONDO_0060589		http://identifiers.org/omim/617732|UMLS:C4540277
HP:0002648	Abnormality of calvarial morphology	biolink:PhenotypicFeature	mondo	UMLS:C4280260|UMLS:C4025692		Abnormal cranium morphology|Abnormality of the shape of skull bones|Abnormality of cranial bone morphology|Abnormality of the shape of calvarium|Abnormality of skull bone morphology|Abnormally shaped skull|Abnormality of the shape of cranium	http://purl.obolibrary.org/obo/HP_0002648	The presence of an abnormal shape of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain.	
NCBITaxon:644	Aeromonas hydrophila	organism taxon	mondo	GC_ID:11|PMID:932684|PMID:16560691|PMID:23485124|PMID:19965992		Proteus ichthyosmius|Aeromonas liquefaciens|Bacterium hydrophilum|Pseudomonas hydrophila|Proteus hydrophilus|Bacillus hydrophilus fuscus|Aeromonas dourgesi|Bacillus hydrophilus	http://purl.obolibrary.org/obo/NCBITaxon_644		
MONDO:0060585	neuronopathy, distal hereditary motor, type 9	biolink:Disease	mondo	DOID:0111212|UMLS:C4540265|OMIM:617721		HMN9|neuropathy, distal hereditary motor, type 9|neuronopathy, distal hereditary motor, type IX; HMN9	http://purl.obolibrary.org/obo/MONDO_0060585		DOID:0111212|UMLS:C4540265|http://identifiers.org/omim/617721
MONDO:0060593	actn3 deficiency	biolink:Disease	mondo	OMIM:617749		sprinting performance|ACTN3 deficiency|Alpha-actinin-3 deficiency	http://purl.obolibrary.org/obo/MONDO_0060593		http://identifiers.org/omim/617749
MONDO:0060592	Sweeney-Cox syndrome	biolink:Disease	mondo	UMLS:C4540299|OMIM:617746|DOID:0080538		Sweeney-Cox syndrome; SWCOS|SWCOS	http://purl.obolibrary.org/obo/MONDO_0060592		DOID:0080538|http://identifiers.org/omim/617746|UMLS:C4540299
MONDO:0060591	immunodeficiency, developmental delay, and hypohomocysteinemia	biolink:Disease	mondo	UMLS:C4540293|OMIM:617744		immunodeficiency, developmental delay, and hypohomocysteinemia; IMDDHH|IMDDHH	http://purl.obolibrary.org/obo/MONDO_0060591		http://identifiers.org/omim/617744|UMLS:C4540293
HP:0002644	Abnormality of pelvic girdle bone morphology	biolink:PhenotypicFeature	mondo	UMLS:C4020847		Abnormal shape of pelvic girdle bone|Abnormality of the pelvic girdle	http://purl.obolibrary.org/obo/HP_0002644	An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.	
ECTO:5000000	exposure to geographic feature	biolink:OntologyClass	mondo			geographic feature exposure	http://purl.obolibrary.org/obo/ECTO_5000000	A exposure event involving the interaction of an exposure receptor to geographic feature.	
GO:0003354	negative regulation of cilium movement	biolink:OntologyClass	mondo			negative regulation of flagellum movement|negative regulation of microtubule-based flagellum movement	http://purl.obolibrary.org/obo/GO_0003354	Any process that decreases the rate, frequency, or extent of cilium movement, the directed, self-propelled movement of a cilium.	
GO:0003353	positive regulation of cilium movement	biolink:OntologyClass	mondo			positive regulation of flagellar movement|positive regulation of flagellum movement|positive regulation of microtubule-based flagellum movement	http://purl.obolibrary.org/obo/GO_0003353	Any process that increases the rate, frequency, or extent of cilium movement, the directed, self-propelled movement of a cilium.	
GO:0003352	regulation of cilium movement	biolink:OntologyClass	mondo			regulation of flagellum movement|regulation of microtubule-based flagellum movement|regulation of flagellar movement	http://purl.obolibrary.org/obo/GO_0003352	Any process that modulates the rate, frequency, or extent of cilium movement, the directed, self-propelled movement of a cilium.	
MONDO:0060533	microcephaly, short stature, and limb abnormalities	biolink:Disease	mondo	OMIM:617604|UMLS:C4539873		microcephaly, short stature, and limb abnormalities; MISSLA|MISSLA	http://purl.obolibrary.org/obo/MONDO_0060533		UMLS:C4539873|http://identifiers.org/omim/617604
MONDO:0060532	congenital heart defects and skeletal malformations syndrome	biolink:Disease	mondo	OMIM:617602|UMLS:C4539857		CHDSKM|congenital heart defects and skeletal malformations syndrome; CHDSKM	http://purl.obolibrary.org/obo/MONDO_0060532		UMLS:C4539857|http://identifiers.org/omim/617602
HP:0000032	Abnormality of male external genitalia	biolink:PhenotypicFeature	mondo	UMLS:C4025897			http://purl.obolibrary.org/obo/HP_0000032	An abnormality of male external genitalia.	
HP:0000035	Abnormal testis morphology	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:55631001|UMLS:C0266423		Abnormality of the testis|Anomaly of the testes	http://purl.obolibrary.org/obo/HP_0000035	An anomaly of the testicle (the male gonad).	
HGNC:10397	RPS17	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10397		
HP:0000037	Male pseudohermaphroditism	biolink:PhenotypicFeature	mondo	MSH:D058490|UMLS:C0238395|SNOMEDCT_US:111332007			http://purl.obolibrary.org/obo/HP_0000037	Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes.	
HP:0000036	Abnormality of the penis	biolink:PhenotypicFeature	mondo	UMLS:C4025896		Abnormality of the penis	http://purl.obolibrary.org/obo/HP_0000036		
HP:0002693	Abnormality of the skull base	biolink:PhenotypicFeature	mondo	UMLS:C4025688		Abnormality of cranial base|Abnormality of the skull base	http://purl.obolibrary.org/obo/HP_0002693	An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components.	
HP:0000031	Epididymitis	biolink:PhenotypicFeature	mondo	MSH:D004823|SNOMEDCT_US:31070006|UMLS:C0014534			http://purl.obolibrary.org/obo/HP_0000031	The presence of inflammation of the epididymis.	
GO:0030964	NADH dehydrogenase complex	biolink:OntologyClass	mondo			NADH dehydrogenase complex (plastoquinone)|plastid NADH dehydrogenase complex (plastoquinone)|Complex I|NADH:plastoquinone reductase complex|NADH dehydrogenase complex (quinone)|NADH dehydrogenase complex (ubiquinone)	http://purl.obolibrary.org/obo/GO_0030964	An integral membrane complex that possesses NADH oxidoreductase activity. The complex is one of the components of the electron transport chain. It catalyzes the transfer of a pair of electrons from NADH to a quinone.	
MONDO:0060527	maleylacetoacetate isomerase deficiency	biolink:Disease	mondo	OMIM:617596|UMLS:C1291607		hypersuccinylacetonemia, mild|MAAI deficiency|MAAID|benign hypersuccinylacetonemia|maleylacetoacetate isomerase deficiency; MAAID	http://purl.obolibrary.org/obo/MONDO_0060527		http://identifiers.org/omim/617596|UMLS:C1291607
NCBITaxon:662	Vibrio	organism taxon	mondo	PMID:21296930|PMID:17978204|PMID:24409173|PMID:8590667|PMID:1371064|PMID:21057054|GC_ID:11|PMID:4935323|PMID:7520733		Pacinia|Beneckea|Listonella|Microspira	http://purl.obolibrary.org/obo/NCBITaxon_662		
NCBITaxon:666	Vibrio cholerae	organism taxon	mondo	PMID:1015934|PMID:9272984|GC_ID:11		Vibrio cholerae-asiaticae|Vibrio albensis|Spirillum cholerae-asiaticae|Kommabacillus|Bacillus cholerae|Pacinia cholerae-asiaticae|Vibrio comma|Liquidivibrio cholerae|Microspira comma|Vibrio cholera|Bacillus cholerae-asiaticae|Vibrio cholerae bv. albensis|Bacillo virgola del Koch|Spirillum cholerae|Vibrio cholerae biovar albensis	http://purl.obolibrary.org/obo/NCBITaxon_666		
HP:0000044	Hypogonadotropic hypogonadism	biolink:PhenotypicFeature	mondo	UMLS:C0271623|SNOMEDCT_US:33927004|MSH:D007006|UMLS:C3489396		Isolated hypogonadotropic hypogonadism|Low gonadotropins (secondary hypogonadism)|Hypogonadotrophic hypogonadism	http://purl.obolibrary.org/obo/HP_0000044	Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).	
GO:0015349	thyroid hormone transmembrane transporter activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0015349	Enables the transfer of thyroid hormones from one side of a membrane to the other. Thyroid hormone are any of the compounds secreted by the thyroid gland, largely thyroxine and triiodothyronine.	
CHEBI:17295	L-phenylalanine	biolink:ChemicalSubstance	mondo			(S)-2-Amino-3-phenylpropionic acid|PHENYLALANINE|(S)-alpha-Amino-beta-phenylpropionic acid|(2S)-2-amino-3-phenylpropanoic acid|Phe|beta-phenyl-L-alanine|L-phenylalanine|L-Phenylalanine|3-phenyl-L-alanine|F	http://purl.obolibrary.org/obo/CHEBI_17295	The L-enantiomer of phenylalanine.	
NCBITaxon:1224679	Diphyllobothriidea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1224679		
GO:0003333	amino acid transmembrane transport	biolink:OntologyClass	mondo			amino acid membrane transport	http://purl.obolibrary.org/obo/GO_0003333	The process in which an amino acid is transported across a membrane.	
GO:0005996	monosaccharide metabolic process	biolink:OntologyClass	mondo			monosaccharide metabolism	http://purl.obolibrary.org/obo/GO_0005996	The chemical reactions and pathways involving monosaccharides, the simplest carbohydrates. They are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides.	
GO:0003332	negative regulation of extracellular matrix constituent secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0003332	Any process that decreases the rate, frequency, or extent the controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell or a group of cells.	
GO:0003331	positive regulation of extracellular matrix constituent secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0003331	Any process that increases the rate, frequency, or extent of the controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell or a group of cells.	
MONDO:0060556	joint laxity, short stature, and myopia	biolink:Disease	mondo	UMLS:C4540020|Orphanet:527450|OMIM:617662	ordo_malformation_syndrome	joint laxity, short stature, and myopia; JLSM|JLSM	http://purl.obolibrary.org/obo/MONDO_0060556		http://identifiers.org/omim/617662|UMLS:C4540020|ORPHA:527450
NCBITaxon:672	Vibrio vulnificus	organism taxon	mondo	PMID:1015934|GC_ID:11|PMID:8186099		Beneckea vulnifica	http://purl.obolibrary.org/obo/NCBITaxon_672		
GO:0003330	regulation of extracellular matrix constituent secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0003330	Any process that modulates the rate, frequency, or extent of the controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell or a group of cells.	
MONDO:0060555	vertebral, cardiac, renal, and limb defects syndrome 2	biolink:Disease	mondo	UMLS:C4540014|OMIM:617661		kynureninase deficiency, complete|vertebral, cardiac, renal, and limb defects syndrome 2; VCRL2|congenital NAD deficiency disorder 2|VCRL2	http://purl.obolibrary.org/obo/MONDO_0060555		http://identifiers.org/omim/617661|UMLS:C4540014
MONDO:0060554	vertebral, cardiac, renal, and limb defects syndrome 1	biolink:Disease	mondo	UMLS:C4540004|OMIM:617660		VCRL1|3-hydroxyanthranilic acidemia|vertebral, cardiac, renal, and limb defects syndrome 1; VCRL1|congenital NAD deficiency Disorder 1	http://purl.obolibrary.org/obo/MONDO_0060554		UMLS:C4540004|http://identifiers.org/omim/617660
MONDO:0060562	encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	biolink:Disease	mondo	OMIM:617668|UMLS:C4540052		encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities; NELABA|lipoyltransferase 2 deficiency|NELABA	http://purl.obolibrary.org/obo/MONDO_0060562		UMLS:C4540052|http://identifiers.org/omim/617668
HP:0000011	Neurogenic bladder	biolink:PhenotypicFeature	mondo	UMLS:C0005697|SNOMEDCT_US:398064005|MSH:D001750|SNOMEDCT_US:397732007		Lack of bladder control due to nervous system injury	http://purl.obolibrary.org/obo/HP_0000011	A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention.	
GO:0015318	inorganic molecular entity transmembrane transporter activity	biolink:OntologyClass	mondo			inorganic uptake permease activity|inorganic solute uptake transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0015318	Enables the transfer of an inorganic molecular entity from the outside of a cell to the inside of the cell across a membrane. An inorganic molecular entity is a molecular entity that contains no carbon.	
HP:0000014	Abnormality of the bladder	biolink:PhenotypicFeature	mondo	UMLS:C0149632			http://purl.obolibrary.org/obo/HP_0000014	An abnormality of the urinary bladder.	
HGNC:10379	MRPL3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10379		
MONDO:0060549	congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	biolink:Disease	mondo	OMIM:617641|UMLS:C4539968		CAKUTHED|congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay; CAKUTHED	http://purl.obolibrary.org/obo/MONDO_0060549		UMLS:C4539968|http://identifiers.org/omim/617641
GO:0003341	cilium movement	biolink:OntologyClass	mondo			ciliary motility|flagellar movement|flagellar motility|microtubule-based flagellum movement|flagellum movement|cilium beating	http://purl.obolibrary.org/obo/GO_0003341	The directed, self-propelled movement of a cilium.	
MONDO:0060551	cerebellar atrophy, developmental delay, and seizures	biolink:Disease	mondo	OMIM:617643|UMLS:C4539985		cerebellar atrophy, developmental delay, and seizures; CADEDS|CADEDS	http://purl.obolibrary.org/obo/MONDO_0060551		http://identifiers.org/omim/617643|UMLS:C4539985
HP:0000022	Abnormality of male internal genitalia	biolink:PhenotypicFeature	mondo	UMLS:C4025899			http://purl.obolibrary.org/obo/HP_0000022	An abnormality of the male internal genitalia.	
HP:0002686	Prenatal maternal abnormality	biolink:PhenotypicFeature	mondo	UMLS:C4025690		Maternal health problem	http://purl.obolibrary.org/obo/HP_0002686		
MONDO:0060550	polydactyly, postaxial, type a7	biolink:Disease	mondo	OMIM:617642		PAPA7|polydactyly, postaxial, type A7; PAPA7	http://purl.obolibrary.org/obo/MONDO_0060550		http://identifiers.org/omim/617642
HP:0002683	Abnormality of the calvaria	biolink:PhenotypicFeature	mondo	UMLS:C4280561|UMLS:C4025691		Abnormality of cranial vault|Abnormality of calvarium|Abnormality of cranium|Abnormality of the skullcap|Abnormality of the skull cap	http://purl.obolibrary.org/obo/HP_0002683	Abnormality of the calvaria, which is the roof of the skull formed by the frontal bone, parietal bones, and occipital bone.	
HP:0000023	Inguinal hernia	biolink:PhenotypicFeature	mondo	MEDDRA:10022016|UMLS:C0019294|SNOMEDCT_US:396232000|MSH:D006552	hposlim_core		http://purl.obolibrary.org/obo/HP_0000023	Protrusion of the contents of the abdominal cavity through the inguinal canal.	
HGNC:10387	RPS14	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10387		
HP:0000025	Functional abnormality of male internal genitalia	biolink:PhenotypicFeature	mondo	UMLS:C4025898			http://purl.obolibrary.org/obo/HP_0000025		
HP:0000027	Azoospermia	biolink:PhenotypicFeature	mondo	MSH:D053713|UMLS:C0004509|SNOMEDCT_US:48188009|SNOMEDCT_US:425558002		Absent sperm in semen	http://purl.obolibrary.org/obo/HP_0000027	Absence of any measurable level of sperm in his semen.	
HGNC:10383	RPS10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10383		
MONDO:0011449	Salla disease	biolink:Disease	mondo	SCTID:87074006|ICD10:E77.8|UMLS:C1096903|NCIT:C85067|MedDRA:10067531|OMIM:604369|Orphanet:309334|GARD:0004754	ordo_clinical_subtype|gard_rare	Salla disease|SD|sialuria, Finnish type|sialic acid storage disease|Salla disease; SD	http://purl.obolibrary.org/obo/MONDO_0011449	Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive.	UMLS:C1096903|NCIT:C85067|ORPHA:309334|SNOMEDCT:87074006|http://identifiers.org/omim/604369|MEDDRA:10067531
MONDO:0011448	PPARG-related familial partial lipodystrophy	biolink:Disease	mondo	GARD:0012600|ICD10:E88.1|DOID:0070204|OMIM:604367|Orphanet:79083	ordo_disease	lipodystrophy, familial partial, type 3|PPARG-related FPLD|familial partial lipodystrophy associated with PPARG mutations|familial partial lipodystrophy type 3|FPLD3|lipodystrophy, familial partial, associated with Pparg mutations|lipodystrophy, familial partial, type 3; FPLD3	http://purl.obolibrary.org/obo/MONDO_0011448		http://identifiers.org/omim/604367|DOID:0070204|ORPHA:79083
MONDO:0011452	hypotrichosis 7	biolink:Disease	mondo	GARD:0008178|OMIM:604379|EFO:0009163|DOID:0110704|MESH:C536973		hypotrichosis, autosomal recessive|total Mari type hypotrichosis,|Wh/Ht|hypotrichosis, localized, autosomal recessive 2|hypotrichosis, total, Mari type|hypotrichosis 7; HYPT7|Mari type alopecia universalis congenita|hypotrichosis caused by mutation in LIPH|LIPH hypotrichosis|hypotrichosis 7|alopecia universalis congenita, Mari type|hypotrichosis type 7|woolly hair, autosomal recessive 2, with or without hypotrichosis|total hypotrichosis, Mari type|Lah2|HYPT7	http://purl.obolibrary.org/obo/MONDO_0011452	Any hypotrichosis in which the cause of the disease is a mutation in the LIPH gene.	MESH:C536973|DOID:0110704|http://identifiers.org/omim/604379
MONDO:0011451	cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	biolink:Disease	mondo	DOID:0080357|OMIM:604377		SCO2 fatal infantile encephalocardiomyopathy|fatal infantile encephalocardiomyopathy caused by mutation in SCO2|cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1|cytochrome C oxidase deficiency, fatal infantile, with cardioencephalomyopathy|CEMCOX1|cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; CEMCOX1|cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 1	http://purl.obolibrary.org/obo/MONDO_0011451	Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the SCO2 gene.	DOID:0080357|http://identifiers.org/omim/604377
MONDO:0011454	patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome	biolink:Disease	mondo	ICD10:Q87.2|Orphanet:228190|UMLS:C1858420|MESH:C565782|OMIM:604381	ordo_malformation_syndrome	patent arterial duct-bicuspid aortic valve-hand anomalies syndrome|patent ductus arteriosus and bicuspid aortic valve with hand anomalies	http://purl.obolibrary.org/obo/MONDO_0011454	Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant.	ORPHA:228190|UMLS:C1858420|MESH:C565782|http://identifiers.org/omim/604381
MONDO:0011453	ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia	biolink:Disease	mondo	OMIM:604380|MESH:C565783|UMLS:C1858422		ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia	http://purl.obolibrary.org/obo/MONDO_0011453		UMLS:C1858422|MESH:C565783|http://identifiers.org/omim/604380
MONDO:0011456	nephronophthisis 3	biolink:Disease	mondo	OMIM:604387|DOID:0111114|UMLS:C1858392|MESH:C565780		Nph3|NPHP3 nephronophthisis (disease)|NPH3|NPHP3|nephronophthisis type 3|nephronophthisis (disease) caused by mutation in NPHP3|nephronophthisis 3; NPHP3|nephronophthisis 3	http://purl.obolibrary.org/obo/MONDO_0011456	Any nephronophthisis in which the cause of the disease is a mutation in the NPHP3 gene.	UMLS:C1858392|DOID:0111114|MESH:C565780|http://identifiers.org/omim/604387
UBERON:0007099	hyoid neural crest	biolink:AnatomicalEntity	mondo			hyoid crest	http://purl.obolibrary.org/obo/UBERON_0007099	Cranial neural crest that migrates into the hyoid arch.	
UBERON:0007098	mandibular neural crest	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0007098	Cranial neural crest that migrates into the mandibular arch.	
MONDO:0011455	lissencephaly, familial, with cleft palate and cerebellar hypoplasia	biolink:Disease	mondo	OMIM:604382|UMLS:C1858419|MESH:C565781		lissencephaly, familial, with cleft palate and cerebellar hypoplasia	http://purl.obolibrary.org/obo/MONDO_0011455		UMLS:C1858419|MESH:C565781|http://identifiers.org/omim/604382
MONDO:0011458	Leber congenital amaurosis 4	biolink:Disease	mondo	UMLS:C1858386|DOID:0110332|GARD:0009662|MESH:C565778|OMIM:604393|ICD10:H35.5	gard_rare	amaurosis congenita of Leber, type 4|Leber congenital amaurosis type 4|Leber congenital amaurosis 4|Leber congenital amaurosis 4; LCA4|Leber congenital amaurosis caused by mutation in AIPL1|retinitis pigmentosa, juvenile, Aipl1-related|LCA4|cone-rod dystrophy, Aipl1-related|AIPL1 Leber congenital amaurosis	http://purl.obolibrary.org/obo/MONDO_0011458	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the AIPL1 gene.	UMLS:C1858386|MESH:C565778|DOID:0110332|http://identifiers.org/omim/604393
HP:0000633	Decreased lacrimation	biolink:PhenotypicFeature	mondo	UMLS:C0235857		Decreased tear secretion	http://purl.obolibrary.org/obo/HP_0000633	Abnormally decreased lacrimation, that is, reduced ability to produce tears.	
MONDO:0011457	ataxia - telangiectasia-like disorder	biolink:Disease	mondo	SCTID:700058006|ICD10:G11.3|UMLS:CN239583|NCIT:C132224|DC:0000668|MESH:C565779|ICD9:334.8|OMIMPS:604391|Orphanet:251347	prototype_pattern|ordo_disease	ataxia - telangiectasia-like disorder|ataxia-telangiectasia-like disorder type 1|ATLD1|ATLD|ataxia-telangiectasia-like disorder 1	http://purl.obolibrary.org/obo/MONDO_0011457	An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia.	ORPHA:251347|UMLS:CN239583|NCIT:C132224|MESH:C565779|SNOMEDCT:700058006
HP:0000632	Lacrimation abnormality	biolink:PhenotypicFeature	mondo	UMLS:C4021801		Abnormality of tear production	http://purl.obolibrary.org/obo/HP_0000632	Abnormality of tear production.	
HGNC:10472	RUNX2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10472		
MONDO:0011450	breast-ovarian cancer, familial, susceptibility to, 1	biolink:Disease	mondo	OMIM:604370	predisposition	susceptibility to familial breast-ovarian cancer 1|breast-ovarian cancer, familial, susceptibility to, 1; BROVCA1|BRCA1 hereditary breast ovarian cancer syndrome|breast-ovarian cancer, familial, susceptibility to, type 1|hereditary breast ovarian cancer syndrome caused by mutation in BRCA1|breast cancer, familial, susceptibility to, 1|ovarian cancer, familial, susceptibility to, 1|breast-ovarian cancer, familial, susceptibility to, 1|BROVCA1	http://purl.obolibrary.org/obo/MONDO_0011450	Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA1 gene.	http://identifiers.org/omim/604370
HGNC:10471	RUNX1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10471		
HP:0000646	Amblyopia	biolink:PhenotypicFeature	mondo	UMLS:C0002418|SNOMEDCT_US:387742006|MSH:D000550	hposlim_core	Wandering eye|Lazy eye|Wandering eyes	http://purl.obolibrary.org/obo/HP_0000646	Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.	
MONDO:0011438	acne (disease)	biolink:Disease	mondo	OMIM:604324|EFO:0003894|ICD10:L70.2|ICD10:L70|ICD9:706.0|COHD:138826|HP:0001061|NCIT:C27195|DOID:6543|ICD10:L70.9|MTH:217		acne vulgaris|frontalis acne|acne, ADULT|acne|acne varioliformis	http://purl.obolibrary.org/obo/MONDO_0011438	An inflammatory process of the sebaceous glands which is characterized by comedones, nodules, papules and/or pustules on the skin.	NCIT:C27195|http://identifiers.org/omim/604324|DOID:6543
MONDO:0011437	microcephaly 4, primary, autosomal recessive	biolink:Disease	mondo	UMLS:C1858516|MESH:C565792|OMIM:604321|DOID:0070291		microcephaly 4, primary, autosomal recessive|microcephaly 4, primary, autosomal recessive; MCPH4|MCPH4	http://purl.obolibrary.org/obo/MONDO_0011437		MESH:C565792|http://identifiers.org/omim/604321|DOID:0070291|UMLS:C1858516
HP:0000648	Optic atrophy	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:76976005|MSH:D009896|UMLS:C0029124	hposlim_core	Optic-nerve degeneration|Optic nerve atrophy	http://purl.obolibrary.org/obo/HP_0000648	Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.	
MONDO:0011439	spinocerebellar ataxia type 12	biolink:Disease	mondo	NCIT:C154316|GARD:0010476|MESH:C565790|SCTID:719208005|OMIM:604326|Orphanet:98762|UMLS:C4304885|UMLS:C1858501|ICD10:G11.2|DOID:0050962	ordo_disease	SCA12|spinocerebellar ataxia 12|spinocerebellar ataxia type 12|spinocerebellar ataxia 12; SCA12	http://purl.obolibrary.org/obo/MONDO_0011439	Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.	UMLS:C4304885|MESH:C565790|DOID:0050962|http://identifiers.org/omim/604326|NCIT:C154316|SNOMEDCT:719208005|UMLS:C1858501|ORPHA:98762
NCBITaxon:1851469	Trichosporonales	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1851469		
MONDO:0011441	complex regional pain syndrome type 1	biolink:Disease	mondo	ICD9:337.21|OMIM:604335|Orphanet:99995|MedDRA:10064334|ICD9:733.7|ICD9:337.2|ICD9:337.29|EFO:1001147|MedDRA:10038249|SCTID:50642008|ICD10:M89.0|UMLS:C0034931|NCIT:C85042|DOID:1811|ICD9:337.20|MESH:D012019|ICD10:G90.5	ordo_clinical_subtype	RND|CRPS I|reflex neurovascular dystrophy|complex regional pain syndrome type 1|RSDS|Complex regional pain syndrome I|reflex sympathetic dystrophy syndrome|CRPS1|Algodystrophy|reflex sympathetic dystrophy	http://purl.obolibrary.org/obo/MONDO_0011441	Complex regional pain syndrome type 1 (CRPS1) is a form of complex regional pain syndrome in which the pain is disproportionate to any known inciting event and is characterized by continuous pain, allodynia, or hyperalgesia as well as edema, coloration (changes in skin blood flow), or abnormal sudomotor activity in the region of pain. Onset of CRPS1 symptoms may occur within a few days to a month after an injury or trauma to the affected limb.	DOID:1811|UMLS:C0034931|SNOMEDCT:50642008|MEDDRA:10064334|MESH:D012019|ORPHA:99995|NCIT:C85042|http://identifiers.org/omim/604335
MONDO:0011440	hypertension, essential, susceptibility to, 2	biolink:Disease	mondo	OMIM:604329	predisposition	hypertension, essential, susceptibility to, type 2|Hyt2|hypertension, essential, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0011440		http://identifiers.org/omim/604329
MONDO:0011443	febrile seizures, familial, 4	biolink:Disease	mondo	OMIM:604352|MESH:C565788|UMLS:C1858493|DOID:0111305		febrile seizures, familial, 4; FEB4|febrile seizures, familial, type 4|convulsions, familial febrile, 4|febrile seizures, familial caused by mutation in ADGRV1|ADGRV1 febrile seizures, familial|febrile seizures, familial, 4|FEB4	http://purl.obolibrary.org/obo/MONDO_0011443	Any febrile seizures, familial in which the cause of the disease is a mutation in the ADGRV1 gene.	UMLS:C1858493|DOID:0111305|MESH:C565788|http://identifiers.org/omim/604352
MONDO:0011442	advanced sleep phase syndrome 1	biolink:Disease	mondo	DOID:0110011|UMLS:C3807327|OMIM:604348		FASPS1|familial advanced sleep phase syndrome 1|advanced sleep phase syndrome, familial, 1; FASPS1|advanced sleep phase syndrome caused by mutation in PER2|advanced sleep phase syndrome, familial, 1|advanced sleep phase syndrome, familial, type 1|PER2 advanced sleep phase syndrome|advanced sleep phase syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0011442	Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER2 gene.	UMLS:C3807327|DOID:0110011|http://identifiers.org/omim/604348
MONDO:0011445	hereditary spastic paraplegia 11	biolink:Disease	mondo	DOID:0110764|OMIM:604360|NCIT:C148317|GARD:0004919|ICD10:G11.4|SCTID:715491000|Orphanet:2822	ordo_disease	Nakamura Osame syndrome|autosomal recessive spastic paraplegia 11|spastic paraplegia 11|autosomal recessive spastic paraplegia complicated with thin corpus callosum|spastic paraplegia - intellectual deficit - thin corpus callosum|hereditary spastic paraplegia type 11|SPG11|SPG11 hereditary spastic paraplegia|spastic paraplegia, autosomal recessive, with mental impairment and thin corpus callosum|spastic paraplegia 11, autosomal recessive; SPG11|spastic paraplegia, autosomal recessive, complicated, with thin corpus callosum|autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum|spastic paraplegia-intellectual disability-thin corpus callosum syndrome|hereditary spastic paraplegia mental impairment and thin corpus callosum|hereditary spastic paraplegia caused by mutation in SPG11|spastic paraplegia 11, autosomal recessive|autosomal recessive spastic paraplegia type 11|HSP-TCC|Nakamura-Osame syndrome	http://purl.obolibrary.org/obo/MONDO_0011445	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the SPG11 gene.	DOID:0110764|http://identifiers.org/omim/604360|SNOMEDCT:715491000|UMLS:C2931821|NCIT:C148317|UMLS:C1858479|MESH:C538335|ORPHA:2822|MESH:C537483
MONDO:0011444	Duane retraction syndrome 2	biolink:Disease	mondo	SCTID:128083007|OMIM:604356|GARD:0009966	gard_rare	Duane retraction syndrome 2|CHN1 Duane retraction syndrome|Duane retraction syndrome 2; DURS2|Duane retraction syndrome caused by mutation in CHN1|Duane retraction syndrome type 2|Duane syndrome type 2|DURS2	http://purl.obolibrary.org/obo/MONDO_0011444	Any Duane retraction syndrome in which the cause of the disease is a mutation in the CHN1 gene.	SNOMEDCT:128083007|http://identifiers.org/omim/604356
MONDO:0011447	obsolete epilepsy, familial focal, with variable foci	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0011447		
MONDO:0011446	myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders	biolink:Disease	mondo	UMLS:C1858478|OMIM:604363|MESH:C565786		myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders	http://purl.obolibrary.org/obo/MONDO_0011446		http://identifiers.org/omim/604363|UMLS:C1858478|MESH:C565786
HP:0012614	Abnormal urine cytology	biolink:PhenotypicFeature	mondo	UMLS:C0587955|SNOMEDCT_US:310439007			http://purl.obolibrary.org/obo/HP_0012614	An anomalous finding in the examination of the urine for cells.	
MONDO:0023419	hyperprolinemia	biolink:Disease	mondo	DOID:0080541|UMLS:C0268528|GARD:0002847|SCTID:59655002|ICD9:270.8	gard_rare	hyperprolinemia type 1|proline oxidase deficiency|proline hydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0023419	Hyperprolinemia is when there isan excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms:hyperprolinemia type1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern.	DOID:0080541|SNOMEDCT:59655002|UMLS:C0268528
HGNC:10483	RYR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10483		
HGNC:10484	RYR2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10484		
MONDO:0023415	congenital candidiasis	biolink:Disease	mondo	MEDGEN:575892|SCTID:276672007|NCIT:C116811|UMLS:C0343875		Congenital Candidiasis|Congenital candidiasis|Congenital candidosis|congenital candidiasis	http://purl.obolibrary.org/obo/MONDO_0023415	A fungal infection by any of the Candida species that is present at birth.	NCIT:C116811|UMLS:C0343875|SNOMEDCT:276672007
HP:0000613	Photophobia	biolink:PhenotypicFeature	mondo	UMLS:C4020887|UMLS:C0085636|MSH:D020795|SNOMEDCT_US:409668002|SNOMEDCT_US:246622003	hposlim_core	Light hypersensitivity|Photodysphoria|Extreme sensitivity of the eyes to light	http://purl.obolibrary.org/obo/HP_0000613	Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.	
MONDO:0011427	Ascaris lumbricoides infection, susceptibility to	biolink:Disease	mondo	OMIM:604291	predisposition	ascariasis, susceptibility to|Ascaris lumbricoides infection, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0011427		http://identifiers.org/omim/604291
MONDO:0011426	aceruloplasminemia	biolink:Disease	mondo	Orphanet:48818|OMIM:604290|ICD10:G23.0|ICD9:277.6|GARD:0009499|SCTID:124224004|DOID:0050711	gard_rare|ordo_disease	hemosiderosis, systemic, due to aceruloplasminemia|hereditary ceruloplasmin deficiency|familial apoceruloplasmin deficiency|systemic hemosiderosis due to aceruloplasminemia|aceruloplasminemia|ceruloplasmin deficiency|hypoceruloplasminemia	http://purl.obolibrary.org/obo/MONDO_0011426	Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.	DOID:0050711|http://identifiers.org/omim/604290|ORPHA:48818|SNOMEDCT:124224004|MESH:C536004
MONDO:0011429	juvenile idiopathic arthritis	biolink:Disease	mondo	ICD10:M08.3|MedDRA:10059177|ICD10:M08.2|COHD:75622|ICD9:714.33|MESH:D001171|ICD10:M08.1|ICD10:M08.0|OMIM:604302|ICD9:714.31|ICD9:714.32|DOID:676|Orphanet:92|ICD10:M08.9|ICD10:M08.40|ICD10:M08.8|ICD9:714.3|ICD10:M08.4|NCIT:C114357|SCTID:410502007	ordo_group_of_disorders	pauciarticular onset juvenile chronic arthritis|acute juvenile rheumatoid arthritis|juvenile rheumatoid arthritis|systemic juvenile rheumatoid arthritis|pauciarticular juvenile arthritis|Juvenile idiopathic arthritis|rheumatoid arthritis, systemic juvenile|juvenile chronic arthritis|juvenile chronic polyarthritis|JIA|juvenile idiopathic arthritis|monarticular juvenile rheumatoid arthritis	http://purl.obolibrary.org/obo/MONDO_0011429	Juvenile idiopathic arthritis (JIA) is the term used to describe a group of inflammatory articular disorders of unknown cause that begin before the age of 16 and last over 6 weeks. The term juvenile idiopathic arthritis was chosen to signify the absence of any known mechanism underlying the disorder and to highlight the necessity of excluding other types of arthritis occurring in well defined diseases (in particular arthritis occurring in association with infectious, inflammatory and haematooncologic diseases).	MEDDRA:10059177|DOID:676|UMLS:C0553662|NCIT:C114357|http://identifiers.org/omim/604302|ORPHA:92|UMLS:C1444838|MESH:D001171|SNOMEDCT:410502007
MONDO:0011428	ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	biolink:Disease	mondo	ICD10:Q82.4|DOID:0060783|OMIM:604292|MESH:C565799		ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 3|ectrodactyly, ectodermal dysplasia, and cleft Lip/palate syndrome type 3|ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 3; EEC3|EEC3|EEC syndrome 3|EEC syndrome caused by mutation in TP63|ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 3|TP63 EEC syndrome	http://purl.obolibrary.org/obo/MONDO_0011428	Any EEC syndrome in which the cause of the disease is a mutation in the TP63 gene.	MESH:C565799|http://identifiers.org/omim/604292|DOID:0060783
HP:0000618	Blindness	biolink:PhenotypicFeature	mondo	Fyler:4866|UMLS:C0456909|UMLS:C0271215|SNOMEDCT_US:65956007|MSH:D001766	hposlim_core	Legal blindness|Blindness|Total vision loss	http://purl.obolibrary.org/obo/HP_0000618	Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degress in radius around central fixation.	
MONDO:0011430	pulverulent cataract	biolink:Disease	mondo	UMLS:C1852438|DOID:0110235|ICD10:Q12.0|Orphanet:98986|UMLS:CN207240|Orphanet:98984|OMIM:604307|UMLS:C1833118|MESH:C565133	ordo_clinical_subtype	cataract 2 multiple types with or without microcornea|cataract 2, multiple types|cataract 2 multiple types|CTRCT2|cataract 2, multiple types, with or without microcornea|cataract 2, multiple types; CTRCT2|dusty cataract|pulverulent cataract|Coppock-like cataract|cataract, Coppock-like	http://purl.obolibrary.org/obo/MONDO_0011430	A cataract that has material basis in heterozygous mutation in the CRYGC gene on chromosome 2q33.	http://identifiers.org/omim/604307|UMLS:C1852438|UMLS:C1833118|MESH:C565133|ORPHA:98986|ORPHA:98984|UMLS:CN207240|DOID:0110235
MONDO:0011432	blepharophimosis - intellectual disability syndrome, Verloes type	biolink:Disease	mondo	Orphanet:293725|UMLS:C1858538|OMIM:604314|MESH:C565797	ordo_malformation_syndrome	blepharophimosis with facial and genital anomalies and mental retardation|BMRS, Verloes type|blepharophimosis with facial and genital anomalies and intellectual disability|BMRS type V|blepharophimosis-intellectual disability syndrome type V|blepharophimosis-mental retardation syndrome, Verloes type|blepharophimosis-intellectual disability syndrome, Verloes type	http://purl.obolibrary.org/obo/MONDO_0011432		http://identifiers.org/omim/604314|ORPHA:293725|UMLS:C1858538|MESH:C565797
MONDO:0011431	MASS syndrome	biolink:Disease	mondo	GARD:0008489|Orphanet:99715|MESH:C536030|OMIM:604308|UMLS:C1858556	gard_rare	OCTD|MASS syndrome|MASS phenotype|Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings|overlap connective tissue disease	http://purl.obolibrary.org/obo/MONDO_0011431	MASS (Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings) syndrome is a genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms.	http://identifiers.org/omim/604308|UMLS:C1858556|MESH:C536030|ORPHA:99715
MONDO:0011434	PSORS5	biolink:Disease	mondo	DOID:0111282|OMIM:604316		psoriasis 5, susceptibility to; PSORS5|psoriasis 5, susceptibility to|PSORS5	http://purl.obolibrary.org/obo/MONDO_0011434		http://identifiers.org/omim/604316|DOID:0111282
MONDO:0011433	anemia, congenital hypoplastic, with multiple congenital anomalies/mental retardation syndrome	biolink:Disease	mondo	UMLS:C1858537|MESH:C565796|OMIM:604315		anemia, congenital hypoplastic, with multiple congenital anomalies/mental retardation syndrome|anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0011433		http://identifiers.org/omim/604315|UMLS:C1858537|MESH:C565796
MONDO:0011436	autosomal recessive distal spinal muscular atrophy 1	biolink:Disease	mondo	Orphanet:98920|UMLS:C1858517|SCTID:711483003|ICD10:G12.2|MESH:C536880|ICD9:335.19|DOID:0111064|OMIM:604320|GARD:0008592	ordo_disease	spinal muscular atrophy, distal, autosomal recessive, 1; DSMA1|HMN 6|spinal muscular atrophy caused by mutation in IGHMBP2|spinal muscular atrophy with respiratory distress 1|spinal muscular atrophy, diaphragmatic|autosomal recessive spinal muscular atrophy with respiratory distress|SMARD1|Hmn6|autosomal recessive distal spinal muscular atrophy type 1|dSMA1|SIANRF|diaphragmatic spinal muscular atrophy|neuronopathy, distal hereditary motor, type VI|severe infantile axonal neuropathy with respiratory failure type 1|spinal muscular atrophy, distal, autosomal recessive, type 1|spinal muscular atrophy with respiratory distress type 1|neuronopathy, distal hereditary motor, type 6|distal hereditary motor neuropathy type 6|DSMA1|spinal muscular atrophy, distal, autosomal recessive, 1|distal-HMN type 6|IGHMBP2 spinal muscular atrophy|neuronopathy, Severe infantile axonal, with respiratory failure|severe infantile axonal neuropathy with respiratory failure|dHMN6|HMN VI	http://purl.obolibrary.org/obo/MONDO_0011436	Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.	MESH:C536880|http://identifiers.org/omim/604320|SNOMEDCT:711483003|UMLS:C1858517|DOID:0111064|ORPHA:98920
MONDO:0011435	microcephaly 2, primary, autosomal recessive, with or without cortical malformations	biolink:Disease	mondo	DOID:0070293|UMLS:C1858535|OMIM:604317|MESH:C565794		MCPH2|microcephaly 2, primary, autosomal recessive, with or without cortical malformations; MCPH2|microcephaly 2, primary, autosomal recessive, with or without cortical malformations	http://purl.obolibrary.org/obo/MONDO_0011435		MESH:C565794|http://identifiers.org/omim/604317|DOID:0070293|UMLS:C1858535
HP:0000610	Abnormal choroid morphology	biolink:PhenotypicFeature	mondo	UMLS:C0008521|UMLS:C4025836|MSH:D015862	hposlim_core	Abnormality of the choroid|Choroid disease	http://purl.obolibrary.org/obo/HP_0000610	Any structural abnormality of the choroid.	
HGNC:10457	RS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10457		
UBERON:0019042	reproductive system mucosa	biolink:AnatomicalEntity	mondo			genital mucosa	http://purl.obolibrary.org/obo/UBERON_0019042		
HGNC:22448	NOBOX	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/22448		
MONDO:0011416	generalized epilepsy with febrile seizures plus, type 1	biolink:Disease	mondo	MESH:C565809|DOID:0111302|OMIM:604233|UMLS:C1858672		GEFSP1|Gefs+, type 1|generalized epilepsy with febrile seizures plus, type 1; GEFSP1|generalized epilepsy with febrile seizures plus, type 1	http://purl.obolibrary.org/obo/MONDO_0011416		DOID:0111302|MESH:C565809|http://identifiers.org/omim/604233|UMLS:C1858672
MONDO:0011415	Leber congenital amaurosis 3	biolink:Disease	mondo	ICD10:H35.5|MESH:C565814|DOID:0110331|OMIM:604232|GARD:0009661	gard_rare	Leber congenital amaurosis caused by mutation in SPATA7|Leber congenital amaurosis 3|retinitis pigmentosa, juvenile, Spata7-related|Leber congenital amaurosis 3; LCA3|amaurosis congenita of Leber, type 3|Leber congenital amaurosis type 3|SPATA7 Leber congenital amaurosis|LCA3	http://purl.obolibrary.org/obo/MONDO_0011415	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the SPATA7 gene.	DOID:0110331|MESH:C565814|http://identifiers.org/omim/604232
MONDO:0011418	dyslexia, susceptibility to, 3	biolink:Disease	mondo	OMIM:604254	predisposition	dyslexia, susceptibility to, 3; DYX3|dyslexia, susceptibility to, 3|DYX3	http://purl.obolibrary.org/obo/MONDO_0011418		http://identifiers.org/omim/604254
MONDO:0011417	hemochromatosis type 3	biolink:Disease	mondo	DOID:0111030|OMIM:604250|Orphanet:225123|SCTID:719974003|UMLS:C1858664|MESH:C537248|GARD:0010093|ICD10:E83.1	ordo_disease|gard_rare	hemochromatosis, type 3; HFE3|TFR2-related hemochromatosis|TFR2 hereditary hemochromatosis|hemochromatosis due to defect in transferrin receptor 2|HFE3|hemochromatosis, type 3|hemochromatosis due to defect in transferrin receptor 2|hereditary hemochromatosis caused by mutation in TFR2	http://purl.obolibrary.org/obo/MONDO_0011417	Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin.	MESH:C537248|ORPHA:225123|DOID:0111030|http://identifiers.org/omim/604250|SNOMEDCT:719974003|UMLS:C1858664
HP:0000625	Eyelid coloboma	biolink:PhenotypicFeature	mondo	UMLS:C0521573|SNOMEDCT_US:95202004	hposlim_core	Full thickness defect of the eyelid|Notched eyelid|Cleft eyelid|Eyelid coloboma	http://purl.obolibrary.org/obo/HP_0000625	A short discontinuity of the margin of the lower or upper eyelid.	
MONDO:0011419	camera-Marugo-Cohen syndrome	biolink:Disease	mondo	UMLS:C1858661|MESH:C537964|OMIM:604257|GARD:0008413	gard_rare	camera-Marugo-Cohen syndrome|obesity, intellectual disability, body asymmetry, and muscle weakness|camera Marugo Cohen syndrome|obesity, mental retardation, body asymmetry, and muscle weakness	http://purl.obolibrary.org/obo/MONDO_0011419		MESH:C537964|http://identifiers.org/omim/604257|UMLS:C1858661
MONDO:0011421	mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	biolink:Disease	mondo	UMLS:C3276276|ICD10:E88.8|DOID:0050768|GARD:0001459|OMIM:604273	gard_rare|prototype_pattern	mitochondrial complex V (ATP synthase) deficiency, nuclear type 1|mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 1|MC5DN1|mitochondrial complex V (ATP synthase) deficiency, nuclear type 1; MC5DN1|ATPAF2 mitochondrial proton-transporting ATP synthase complex deficiency|mitochondrial complex V deficiency|mitochondrial Complex 5 (ATP synthase) deficiency, Atpaf2 type|Complex 5 mitochondrial respiratory chain deficiency|mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATPAF2	http://purl.obolibrary.org/obo/MONDO_0011421	Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene.	http://identifiers.org/omim/604273|UMLS:C3276276|DOID:0050768
MONDO:0011420	short stature due to partial GHR deficiency	biolink:Disease	mondo	ICD10:E34.3|MESH:C565805|Orphanet:314802|OMIM:604271	ordo_disease	increased responsiveness to Growth hormone|short stature due to partial growth hormone receptor deficiency|Growth hormone, insensitivity to, partial|GHIP|growth hormone insensitivity, partial; GHIP|growth hormone insensitivity, partial|Growth hormone deficiency, isolated, partial	http://purl.obolibrary.org/obo/MONDO_0011420	Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.	http://identifiers.org/omim/604271|ORPHA:314802|MESH:C565805
MONDO:0011423	autosomal recessive limb-girdle muscular dystrophy type 2E	biolink:Disease	mondo	DOID:0110279|ICD10:G71.0|Orphanet:119|OMIM:604286|GARD:0003851|GARD:0000870|SCTID:718850008	gard_rare|ordo_disease	beta-sarcoglycanopathy|muscular dystrophy, limb-girdle, type 2E|LGMD2E|limb-girdle muscular dystrophy type 2E|muscular dystrophy, limb-girdle, type 2E; LGMD2E|autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCB|muscular dystrophy limb-girdle with beta-sarcoglycan deficiency|Beta-sarcoglycan limb-girdle muscular dystrophy|limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency|SGCB autosomal recessive limb-girdle muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0011423	Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.	DOID:0110279|SNOMEDCT:718850008|http://identifiers.org/omim/604286|ORPHA:119
MONDO:0011422	autosomal recessive proximal renal tubular acidosis	biolink:Disease	mondo	UMLS:C1970309|Orphanet:93607|OMIM:604278|MESH:C567038	ordo_clinical_subtype	renal tubular acidosis, proximal, with ocular abnormalities and intellectual disability|RTA, proximal, autosomal recessive|proximal renal tubular acidosis, autosomal recessive|renal tubular acidosis, proximal, with ocular abnormalities and mental retardation|proximal renal tubular acidosis with ocular abnormalities and intellectual disability|AR pRTA	http://purl.obolibrary.org/obo/MONDO_0011422	Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features.	http://identifiers.org/omim/604278|ORPHA:93607|UMLS:C1970309|MESH:C567038
HP:0000622	Blurred vision	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:246636008|SNOMEDCT_US:111516008|UMLS:C0344232	hposlim_core	Blurred vision	http://purl.obolibrary.org/obo/HP_0000622	Lack of sharpness of vision resulting in the inability to see fine detail.	
MONDO:0011425	dilated cardiomyopathy 1H	biolink:Disease	mondo	ICD10:I42.0|MESH:C536277|DOID:0110429|OMIM:604288|UMLS:C1858591		CMD1H|cardiomyopathy, dilated, with conduction defect|cardiomyopathy, dilated, 1H|dilated cardiomyopathy type 1H|cardiomyopathy, dilated, 1H; CMD1H|dilated cardiomyopathy with conduction defect	http://purl.obolibrary.org/obo/MONDO_0011425	A dilated cardiomyopathy that has material basis in variation in the chromosome region 2q14-q22.	DOID:0110429|http://identifiers.org/omim/604288|UMLS:C1858591|MESH:C536277
MONDO:0011424	Carney triad	biolink:Disease	mondo	NCIT:C94833|UMLS:C1858592|OMIM:604287|SCTID:733492003|Orphanet:139411|GARD:0010924|MESH:C565803|ICD10:D44.8	ordo_disease|gard_rare	Carney triad|gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma	http://purl.obolibrary.org/obo/MONDO_0011424	Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.	MESH:C565803|http://identifiers.org/omim/604287|ORPHA:139411|UMLS:C1858592|SNOMEDCT:733492003|NCIT:C94833
HGNC:10468	RTN2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10468		
UBERON:0034670	palatal taste bud	biolink:AnatomicalEntity	mondo			taste bud of palate	http://purl.obolibrary.org/obo/UBERON_0034670	A taste bud that is located on the soft palate, in the roof of the mouth.	
MONDO:0023472	chondrodysplasia situs inversus imperforate anus polydactyly	biolink:Disease	mondo	GARD:0001299	gard_rare	impossible syndrome	http://purl.obolibrary.org/obo/MONDO_0023472		
MONDO:0011496	mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis	biolink:Disease	mondo	OMIM:604864|UMLS:C1858079|MESH:C565740|Orphanet:93279|SCTID:254064009|ICD9:755.63|ICD10:Q77.7	ordo_disease	OSCDP|osteoarthritis with mild chondrodysplasia; OSCDP|Namaqualand hip dysplasia|osteoarthritis with mild chondrodysplasia	http://purl.obolibrary.org/obo/MONDO_0011496	Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.	MESH:C565740|http://identifiers.org/omim/604864|ORPHA:93279|UMLS:C1858079|SNOMEDCT:254064009
HGNC:10432	RPS6KA3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10432		
MONDO:0011495	obsolete Langerhans-cell histiocytosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0011495		
MONDO:0011498	schizophrenia 9	biolink:Disease	mondo	UMLS:C1858050|DOID:0070085|OMIM:604906		schizophrenia 9 with or without an affective disorder|schizophrenia 9|schizophrenia 9; SCZD9|schizophrenia susceptibility locus, chromosome 1Q42-related|SCZD9|schizophrenia type 9	http://purl.obolibrary.org/obo/MONDO_0011498	A schizophrenia that has material basis in a mutation of DISC1 on chromosome 1q42.2.	http://identifiers.org/omim/604906|DOID:0070085|UMLS:C1858050
MONDO:0011497	hereditary North American Indian childhood cirrhosis	biolink:Disease	mondo	Orphanet:168583|UMLS:C1858051|MESH:C565737|ICD10:K74.6|OMIM:604901|SCTID:699189004	ordo_clinical_subtype	NORTH American Indian childhood cirrhosis; NAIC|NAIC|NORTH American Indian childhood cirrhosis	http://purl.obolibrary.org/obo/MONDO_0011497	Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence.	SNOMEDCT:699189004|MESH:C565737|http://identifiers.org/omim/604901|ORPHA:168583|UMLS:C1858051
MONDO:0011499	Okamoto syndrome	biolink:Disease	mondo	ICD10:Q87.8|Orphanet:2729|OMIM:604916|SCTID:722065002|MESH:C565736|GARD:0004064|UMLS:C1858043	ordo_malformation_syndrome|gard_rare	hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and intellectual disability|hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation|congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and mental retardation|congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and intellectual disability|Okamoto syndrome	http://purl.obolibrary.org/obo/MONDO_0011499	Okamoto syndrome is characterised by congenital hydronephrosis, intellectual deficit, growth retardation, cleft palate, generalised hypotonia and a characteristic face. Cardiac anomalies have also been reported. To date, 6 cases have been reported.	ORPHA:2729|MESH:C565736|http://identifiers.org/omim/604916|SNOMEDCT:722065002|UMLS:C1858043
MONDO:0011490	diffuse panbronchiolitis	biolink:Disease	mondo	OMIM:604809|GARD:0008526|MedDRA:10062952|UMLS:C0878555|MESH:C536174|Orphanet:171700|ICD9:491.8|ICD10:J44.8|SCTID:430476004	ordo_disease|gard_rare	PBLT|DPb|panbronchiolitis, diffuse	http://purl.obolibrary.org/obo/MONDO_0011490	Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis	UMLS:C0878555|MEDDRA:10062952|http://identifiers.org/omim/604809|ORPHA:171700|SNOMEDCT:430476004|MESH:C536174
MONDO:0011492	mandibulofacial dysostosis syndrome, Bauru type	biolink:Disease	mondo	OMIM:604830|MESH:C565744|UMLS:C1858101		mandibulofacial dysostosis syndrome, Bauru type	http://purl.obolibrary.org/obo/MONDO_0011492		MESH:C565744|http://identifiers.org/omim/604830|UMLS:C1858101
MONDO:0011491	EIG7	biolink:Disease	mondo	DOID:0111321|OMIM:604827	predisposition	epilepsy, idiopathic generalized, susceptibility to, 7|epilepsy, idiopathic generalized, susceptibility to, 7; EIG7|EIG7|myoclonic epilepsy, juvenile, 2	http://purl.obolibrary.org/obo/MONDO_0011491		DOID:0111321|http://identifiers.org/omim/604827
MONDO:0011494	hyaluronan metabolism, defect 1N	biolink:Disease	mondo	MESH:C565742|OMIM:604855|UMLS:C1858083		hyaluronan metabolism, defect type 1N|hyaluronan metabolism, defect IN	http://purl.obolibrary.org/obo/MONDO_0011494		MESH:C565742|http://identifiers.org/omim/604855|UMLS:C1858083
MONDO:0011493	Stickler syndrome type 2	biolink:Disease	mondo	OMIM:604841|NCIT:C74985|MESH:C537493|UMLS:C1858084|GARD:0005020|ICD10:Q87.5|Orphanet:90654	ordo_clinical_subtype|gard_rare	Stickler syndrome, vitreous type 2|Stickler syndrome caused by mutation in COL11A1|Stickler syndrome type II|STICKLER syndrome, type II; STL2|STL 2|STICKLER syndrome, type II|STL2|Stickler syndrome, beaded vitreous type|Stickler syndrome, type 2|COL11A1 Stickler syndrome	http://purl.obolibrary.org/obo/MONDO_0011493	Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21).	ORPHA:90654|NCIT:C74985|http://identifiers.org/omim/604841|UMLS:C1858084|MESH:C537493
UBERON:0034681	vocal organ	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0034681	Any organ that is the primary organ of vocalization behavior. Examples: The laryngeal vocal cord (humans), the syrinx (birds).	
NCBITaxon:5719	Parabasalia	organism taxon	mondo	PMID:20093080|GC_ID:1		parabasalians|Parabasalidea|parabasalids	http://purl.obolibrary.org/obo/NCBITaxon_5719		
MONDO:0011485	autosomal recessive congenital ichthyosis 5	biolink:Disease	mondo	ICD10:Q80.2|GARD:0009734|OMIM:604777|MESH:C537265|DOID:0060714	gard_rare	type 3 lamellar ichthyosis|ichthyosis, congenital, autosomal recessive type 5|ARCI5|ichthyosis congenita III|ichthyosis congenita 3|ichthyosis, Nonlamellar and Nonerythrodermic, congenital, autosomal recessive|ichthyosis, congenital, autosomal recessive 5; ARCI5|ichthyosis lamellar 3|autosomal recessive congenital ichthyosis type 5|autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis|ichthyosis, lamellar, 3, formerly|NNCI|LI3, formerly|ichthyosis, lamellar, 3|ichthyosis, NONLAMELLAR and NONERYTHRODERMIC, congenital, autosomal recessive|ichthyosis, congenital, autosomal recessive 5|lamellar ichthyosis, type 3	http://purl.obolibrary.org/obo/MONDO_0011485	An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has material basis in homozygous mutation in the CYP4F22 gene on chromosome 19p13.	MESH:C537265|DOID:0060714|http://identifiers.org/omim/604777
MONDO:0011484	catecholaminergic polymorphic ventricular tachycardia 1	biolink:Disease	mondo	OMIM:604772|DOID:0060675|UMLS:C4053736|NCIT:C123414|ICD10:I47.2		catecholaminergic polymorphic ventricular tachycardia type 1|ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy|ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy; CPVT1|CVPT1|ventricular tachycardia, stress-induced polymorphic|CPVT1	http://purl.obolibrary.org/obo/MONDO_0011484	Polymorphic ventricular tachycardia induced by adrenergic stress. It is inherited in an autosomal dominant pattern and is caused by mutations in the ryanodine receptor 2 (RYR2) gene.	DOID:0060675|http://identifiers.org/omim/604772|UMLS:C4053736|NCIT:C123414
MONDO:0011487	Huntington disease-like 3	biolink:Disease	mondo	ICD10:G10|Orphanet:157946|UMLS:C1858114|OMIM:604802|MESH:C565747	ordo_disease	HDL3|Huntington disease-like 3; HDL3|Huntington disease-like type 3|Huntington disease-like 3|Huntington disease-like neurodegenerative disorder, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0011487	Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy.	MESH:C565747|ORPHA:157946|http://identifiers.org/omim/604802|UMLS:C1858114
MONDO:0011486	congenital muscular dystrophy 1B	biolink:Disease	mondo	OMIM:604801|SCTID:764944006|DOID:0110634|ICD10:G71.2|MESH:C565748|Orphanet:98893|UMLS:C1858118	ordo_disease	muscular dystrophy, congenital, 1B; MDC1B|congenital muscular dystrophy type 1B|MDC1B|CMD1B|muscular dystrophy, congenital, 1B	http://purl.obolibrary.org/obo/MONDO_0011486	Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation.	SNOMEDCT:764944006|ORPHA:98893|MESH:C565748|DOID:0110634|http://identifiers.org/omim/604801|UMLS:C1858118
MONDO:0011489	hereditary spastic paraplegia 12	biolink:Disease	mondo	GARD:0009586|ICD10:G11.4|UMLS:C1858106|DOID:0110765|MESH:C537484|OMIM:604805|Orphanet:100993|SCTID:763374004	ordo_disease	SPG12|hereditary spastic paraplegia caused by mutation in RTN2|RTN2 hereditary spastic paraplegia|autosomal dominant spastic paraplegia 12|spastic paraplegia 12, autosomal dominant|autosomal dominant spastic paraplegia type 12|spastic paraplegia 12|hereditary spastic paraplegia type 12|spastic paraplegia 12, autosomal dominant; SPG12	http://purl.obolibrary.org/obo/MONDO_0011489	Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.	UMLS:C1858106|ORPHA:100993|MESH:C537484|DOID:0110765|SNOMEDCT:763374004|http://identifiers.org/omim/604805
MONDO:0011488	microcephaly 3, primary, autosomal recessive	biolink:Disease	mondo	MESH:C565746|OMIM:604804|UMLS:C1858108|DOID:0070286		microcephaly 3, primary, autosomal recessive|microcephaly 3, primary, autosomal recessive; MCPH3|MCPH3|CDK5RAP2 autosomal recessive primary microcephaly|autosomal recessive primary microcephaly caused by mutation in CDK5RAP2	http://purl.obolibrary.org/obo/MONDO_0011488	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK5RAP2 gene.	MESH:C565746|http://identifiers.org/omim/604804|DOID:0070286|UMLS:C1858108
MONDO:0011481	craniosynostosis 2	biolink:Disease	mondo	SCTID:720817008|ICD10:Q75.8|OMIM:604757|Orphanet:1541|GARD:0005538	ordo_malformation_syndrome	Warman-Mulliken-Hayward syndrome|craniosynostosis type 2|craniosynostosis, Boston-type|craniosynostosis 2|CRS2|craniosynostosis, Warman type|Warman Mulliken Hayward syndrome|craniosynostosis 2; CRS2|craniosynostosis Boston type|craniosynostosis Warman type|MSX2-related craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0011481	A form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.	ORPHA:1541|http://identifiers.org/omim/604757|SNOMEDCT:720817008
MONDO:0011480	autosomal dominant nonsyndromic deafness 20	biolink:Disease	mondo	OMIM:604717|ICD10:H90.3|DOID:0110550|UMLS:C1858172|MESH:C565754		DFNA26|ACTG1 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness type 20|Dfna26|autosomal dominant deafness 20|deafness, autosomal dominant 20|DFNA20|deafness, autosomal dominant 20; DFNA20|autosomal dominant nonsyndromic deafness caused by mutation in ACTG1|deafness, autosomal dominant type 20	http://purl.obolibrary.org/obo/MONDO_0011480	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the ACTG1 gene.	MESH:C565754|DOID:0110550|http://identifiers.org/omim/604717|UMLS:C1858172
HGNC:10440	RPS7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10440		
MONDO:0011483	polycystic bone disease	biolink:Disease	mondo	GARD:0008571|MESH:C536324|OMIM:604771|UMLS:C1858143	gard_rare	polycystic bone disease|Pcbd	http://purl.obolibrary.org/obo/MONDO_0011483		MESH:C536324|http://identifiers.org/omim/604771|UMLS:C1858143
MONDO:0011482	dilated cardiomyopathy 1I	biolink:Disease	mondo	MESH:C565752|UMLS:C1858154|OMIM:604765|DOID:0110431|ICD10:I42.0		CMD1I|cardiomyopathy, dilated, type 1I|DES familial isolated dilated cardiomyopathy|familial isolated dilated cardiomyopathy caused by mutation in DES|cardiomyopathy, dilated, 1I|cardiomyopathy, dilated, 1I; CMD1I|dilated cardiomyopathy type 1I	http://purl.obolibrary.org/obo/MONDO_0011482	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DES gene.	MESH:C565752|DOID:0110431|http://identifiers.org/omim/604765|UMLS:C1858154
HP:0000657	Oculomotor apraxia	biolink:PhenotypicFeature	mondo	UMLS:C3489733|SNOMEDCT_US:193662007|MSH:C537423|UMLS:C4020886	hposlim_core	Defective or absent horizontal voluntary eye movements|Ocular motor apraxia	http://purl.obolibrary.org/obo/HP_0000657	Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex.	
UBERON:0034696	fold of peritoneum	biolink:AnatomicalEntity	mondo			peritoneal outpouching|peritoneal pouch|peritoneal fold	http://purl.obolibrary.org/obo/UBERON_0034696		
MONDO:0011474	progressive familial heart block type IB	biolink:Disease	mondo	DOID:0111076|ICD9:426.6|GARD:0002610|MESH:C567037|SCTID:698250005|OMIM:604559		progressive familial heart block, type IB|progressive familial heart block, type 1B|heart block progressive familial type 1B|progressive familial heart block, type IB; PFHB1B|Pfhbib|PFHB1B|TRPM4 progressive familial heart block|progressive familial heart block caused by mutation in TRPM4|progressive familial heart block type 1B	http://purl.obolibrary.org/obo/MONDO_0011474	Any progressive familial heart block in which the cause of the disease is a mutation in the TRPM4 gene.	MESH:C567037|DOID:0111076|http://identifiers.org/omim/604559|SNOMEDCT:698250005
MONDO:0011473	Leber congenital amaurosis 5	biolink:Disease	mondo	OMIM:604537|MESH:C536602|ICD10:H35.5|UMLS:C1858301|DOID:0110215|GARD:0009983	gard_rare	Leber congenital amaurosis caused by mutation in LCA5|LCA5|LCA5 Leber congenital amaurosis|Leber congenital amaurosis type 5|Leber congenital amaurosis 5; LCA5|Leber congenital amaurosis 5|amaurosis congenita of Leber, type 5	http://purl.obolibrary.org/obo/MONDO_0011473	Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LCA5 gene.	UMLS:C1858301|MESH:C536602|DOID:0110215|http://identifiers.org/omim/604537
HGNC:10411	RPS24	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10411		
MONDO:0011476	MHC class I deficiency	biolink:Disease	mondo	DOID:0060009|OMIM:604571|GARD:0008427|UMLS:C1858266|ICD10:D81.6|SCTID:725136003|Orphanet:34592	ordo_disease	bare lymphocyte syndrome type I|immunodeficiency by defective expression of HLA class 1|BLSI|Bare lymphocyte syndrome, type 1|HLA Class 1 deficiency|HLA CLASS I deficiency|Bare lymphocyte syndrome type 1|BARE lymphocyte syndrome, type I|BLS type 1|immunodeficiency by defective expression of HLA class type 1|Bls, type 1|BLS, type I	http://purl.obolibrary.org/obo/MONDO_0011476	Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections.	ORPHA:34592|UMLS:C1858266|SNOMEDCT:725136003|DOID:0060009|http://identifiers.org/omim/604571
HP:0000651	Diplopia	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:24982008|MSH:D004172|UMLS:C0012569	hposlim_core	Double vision	http://purl.obolibrary.org/obo/HP_0000651	Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.	
MONDO:0011475	Charcot-Marie-Tooth disease type 4B2	biolink:Disease	mondo	UMLS:C1858278|GARD:0009200|ICD10:G60.0|Orphanet:99956|SCTID:715800000|MESH:C535421|DOID:0110190|OMIM:604563	ordo_disease|gard_rare	Charcot-Marie-Tooth disease, type 4B2; CMT4B2|autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2|Charcot-Marie-Tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4B2|Charcot-Marie-Tooth neuropathy, type 4B2, with early-onset glaucoma|Charcot Marie Tooth disease type 4B2|CMT 4B2|Charcot-Marie-Tooth disease, type 4B2|Charcot-Marie-Tooth neuropathy, type 4B2|Charcot-Marie-Tooth neuropathy type 4B2|Charcot-Marie-Tooth disease type 4 caused by mutation in SBF2|Charcot-Marie-Tooth disease, type 4B2, with early-onset glaucoma|CMT4B2|SBF2 Charcot-Marie-Tooth disease type 4	http://purl.obolibrary.org/obo/MONDO_0011475	Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported.	UMLS:C1858278|ORPHA:99956|DOID:0110190|MESH:C535421|http://identifiers.org/omim/604563|SNOMEDCT:715800000
MONDO:0011478	growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia	biolink:Disease	mondo	OMIM:604690|UMLS:C1858182|MESH:C565755		growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia|Roca-Weidemann syndrome|growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia|Roca syndrome	http://purl.obolibrary.org/obo/MONDO_0011478		UMLS:C1858182|MESH:C565755|http://identifiers.org/omim/604690
HGNC:10414	RPS26	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10414		
MONDO:0011477	tooth agenesis, selective, 3	biolink:Disease	mondo	OMIM:604625|UMLS:C1970291|MESH:C567036		hypodontia/oligodontia 3|STHAG3|tooth agenesis, selective, 3|tooth agenesis caused by mutation in PAX9|PAX9 tooth agenesis|tooth agenesis, selective, type 3|tooth agenesis, selective, 3; STHAG3	http://purl.obolibrary.org/obo/MONDO_0011477	Any tooth agenesis in which the cause of the disease is a mutation in the PAX9 gene.	UMLS:C1970291|MESH:C567036|http://identifiers.org/omim/604625
MONDO:0011479	postural orthostatic tachycardia syndrome	biolink:Disease	mondo	EFO:1000645|DOID:0111154|ICD10:I95.1|SCTID:8074002|OMIM:604715|Orphanet:443236	ordo_disease	orthostatic intolerance due to NET deficiency|orthostatic intolerance|mitral valve prolapse syndrome|postural tachycardia syndrome due to NET deficiency|soldiers heart|familial orthostatic tachycardia due to norepinephrine transporter deficiency|orhtostatic intolerance|Soldiers heart|irritable heart|neurocirculatory asthenia	http://purl.obolibrary.org/obo/MONDO_0011479	A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart.	ORPHA:443236|DOID:0111154|SNOMEDCT:8074002|http://identifiers.org/omim/604715
HP:0012647	Abnormal inflammatory response	biolink:PhenotypicFeature	mondo	UMLS:C4022805		Abnormal inflammatory response	http://purl.obolibrary.org/obo/HP_0012647	Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.	
HP:0012649	Increased inflammatory response	biolink:PhenotypicFeature	mondo	UMLS:C4022803			http://purl.obolibrary.org/obo/HP_0012649	A abnormal increase in the inflammatory response to injury or infection.	
MONDO:0011470	hyperlipidemia, combined, 2	biolink:Disease	mondo	MESH:C565766|UMLS:C1858308|OMIM:604499		hyperlipidemia, combined, 2|hyperlipidemia, combined, type 2|hyplip2|hyperlipidemia, familial combined, 2	http://purl.obolibrary.org/obo/MONDO_0011470		MESH:C565766|http://identifiers.org/omim/604499|UMLS:C1858308
MONDO:0011472	epidermolysis bullosa simplex due to plakophilin deficiency	biolink:Disease	mondo	UMLS:C1858302|ICD10:Q81.0|Orphanet:158668|GARD:0009705|SCTID:716699004|MESH:C536183|OMIM:604536	ordo_disease	Mcgrath syndrome|ectodermal dysplasia - skin fragility syndrome|ectodermal dysplasia-skin fragility syndrome|McGrath syndrome|ectodermal dysplasia skin fragility syndrome|ectodermal dysplasia/skin fragility syndrome	http://purl.obolibrary.org/obo/MONDO_0011472	Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering.	MESH:C536183|ORPHA:158668|SNOMEDCT:716699004|http://identifiers.org/omim/604536|UMLS:C1858302
MONDO:0011471	inflammatory bowel disease 3	biolink:Disease	mondo	OMIM:604519|MESH:C565764|UMLS:C1858303|DOID:0110891		inflammatory bowel disease type 3|inflammatory bowel disease 3|inflammatory bowel disease 3; IBD3|IBD3	http://purl.obolibrary.org/obo/MONDO_0011471	An inflammatory bowel disease that has material basis in variation in the chromosome region 6p21.3.	MESH:C565764|DOID:0110891|http://identifiers.org/omim/604519|UMLS:C1858303
HP:0000668	Hypodontia	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:64969001|MSH:D000848|UMLS:C0020608	hposlim_core	Missing between one and six teeth|Failure of development of between one and six teeth	http://purl.obolibrary.org/obo/HP_0000668	A developmental anomaly characterized by a reduced number of teeth, whereby up to 6 teeth are missing.	
HGNC:10418	RPS28	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10418		
MONDO:0011459	arrhythmogenic right ventricular dysplasia 5	biolink:Disease	mondo	ICD10:I42.8|UMLS:C1858379|OMIM:604400|DOID:0110074|MESH:C565776		arrhythmogenic right ventricular dysplasia, familial, type 5|ARVC5|arrhythmogenic right ventricular dysplasia type 5|TMEM43 arrhythmogenic right ventricular cardiomyopathy|arrhythmogenic right ventricular dysplasia, familial, 5|arrhythmogenic right ventricular cardiomyopathy 5|familial arrhythmogenic right ventricular dysplasia 5|arrhythmogenic right ventricular dysplasia, familial, 5; ARVD5|arrhythmogenic right ventricular cardiomyopathy caused by mutation in TMEM43|ARVD5	http://purl.obolibrary.org/obo/MONDO_0011459	Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TMEM43 gene.	http://identifiers.org/omim/604400|UMLS:C1858379|DOID:0110074|MESH:C565776
HGNC:10419	RPS29	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10419		
CHEBI:64416	EC 1.3.1.43 (arogenate dehydrogenase) inhibitor	biolink:ChemicalSubstance	mondo			EC 1.3.1.43 inhibitor|cyclohexadienyl dehydrogenase inhibitors|L-arogenate:NAD+ oxidoreductase (decarboxylating) inhibitors|TyrA(a) inhibitors|arogenate dehydrogenase inhibitor|arogenate dehydrogenase (EC 1.3.1.43) inhibitors|L-arogenate:NAD+ oxidoreductase inhibitors|L-arogenate:NAD(+) oxidoreductase (decarboxylating) inhibitor|L-arogenate:NAD(+) oxidoreductase (decarboxylating) inhibitors|L-arogenate:NAD+ oxidoreductase inhibitor|arogenate dehydrogenase inhibitors|arogenate dehydrogenase (EC 1.3.1.43) inhibitor|TyrA(a) inhibitor|L-arogenate:NAD+ oxidoreductase (decarboxylating) inhibitor|EC 1.3.1.43 (arogenate dehydrogenase) inhibitors|cyclohexadienyl dehydrogenase inhibitor|EC 1.3.1.43 inhibitors	http://purl.obolibrary.org/obo/CHEBI_64416	An EC 1.3.1.* (oxidoreductase acting on CH-CH group of donor, NAD(+) or NADP(+) as acceptor) inhibitor that interferes with the action of arogenate dehydrogenase (EC 1.3.1.43).	
MONDO:0011463	polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive	biolink:Disease	mondo	UMLS:C1858353|OMIM:604431|Orphanet:538096|MESH:C565773	ordo_disease	polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0011463	A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination.	UMLS:C1858353|ORPHA:538096|MESH:C565773|http://identifiers.org/omim/604431
MONDO:0011462	pyogenic arthritis-pyoderma gangrenosum-acne syndrome	biolink:Disease	mondo	OMIM:604416|Orphanet:69126|GARD:0009176|UMLS:C1858361|SCTID:724015007|DOID:0080519|MESH:C536253|NCIT:C119055	ordo_disease	Papas|papa|papa syndrome|pyogenic STERILE arthritis, pyoderma gangrenosum, and acne|familial recurrent arthritis|pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne|pyogenic arthritis, pyoderma gangrenosum and acne|fra	http://purl.obolibrary.org/obo/MONDO_0011462	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin.	UMLS:C1858361|ORPHA:69126|DOID:0080519|MESH:C536253|SNOMEDCT:724015007|http://identifiers.org/omim/604416|NCIT:C119055
MONDO:0011465	infundibulocystic basal cell carcinoma	biolink:Disease	mondo	UMLS:C1304297|DOID:4279|NCIT:C27540|MESH:C537655|OMIM:604451|GARD:0009788	gard_rare	basal cell carcinoma, infundibulocystic|skin infundibulocystic basal cell carcinoma|basal cell carcinoma with follicular differentiation	http://purl.obolibrary.org/obo/MONDO_0011465		UMLS:C1304297|DOID:4279|MESH:C537655|http://identifiers.org/omim/604451|NCIT:C27540
MONDO:0011464	spinocerebellar ataxia type 11	biolink:Disease	mondo	UMLS:C4304886|SCTID:719207000|ICD10:G11.8|UMLS:C1858351|OMIM:604432|DOID:0050961|Orphanet:98767|MESH:C565772|GARD:0010475	ordo_disease	spinocerebellar ataxia type 11|SCA11|spinocerebellar ataxia 11; SCA11|spinocerebellar ataxia 11	http://purl.obolibrary.org/obo/MONDO_0011464	Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs.	SNOMEDCT:719207000|UMLS:C1858351|ORPHA:98767|UMLS:C4304886|DOID:0050961|MESH:C565772|http://identifiers.org/omim/604432
MONDO:0011467	obsolete human herpesvirus type 6, integrated	biolink:Disease	mondo	MESH:C565771|OMIM:604474|UMLS:C1858340		human herpesvirus type 6, integrated	http://purl.obolibrary.org/obo/MONDO_0011467		UMLS:C1858340|MESH:C565771|http://identifiers.org/omim/604474
MONDO:0011466	distal myopathy, Welander type	biolink:Disease	mondo	GARD:0005552|ICD10:G71.0|OMIM:604454|Orphanet:603|UMLS:CN205368	ordo_disease	Welander distal myopathy, Swedish type|muscular dystrophy, distal, late-onset, autosomal dominant|WDM|Welander distal myopathy; WDM|distal myopathy, Swedish type|myopathy, distal, Swedish|Welander distal myopathy	http://purl.obolibrary.org/obo/MONDO_0011466	Welander distal myopathy (WDM) is a distal myopathy, characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.	ORPHA:603|MESH:C536690|UMLS:CN205368|http://identifiers.org/omim/604454|UMLS:C2931290
MONDO:0011469	congenital amegakaryocytic thrombocytopenia	biolink:Disease	mondo	GARD:640|SCTID:716336002|DOID:0090118|NCIT:C115207|ICD10:D61.0|UMLS:C1327915|GARD:0000640|Orphanet:3319|MESH:C535982|OMIM:604498	gard_rare|ordo_disease	thrombocytopenia congenital amegakaryocytic|CAMT|amegakaryocytic thrombocytopenia, congenital|amegakaryocytic thrombocytopenia, congenital; CAMT|congenital amegakaryocytic thrombocytopenic purpura	http://purl.obolibrary.org/obo/MONDO_0011469	Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.	ORPHA:3319|SNOMEDCT:716336002|NCIT:C115207|DOID:0090118|UMLS:C1327915|MESH:C535982|http://identifiers.org/omim/604498
MONDO:0011468	hereditary motor and sensory neuropathy, Okinawa type	biolink:Disease	mondo	Orphanet:90117|GARD:0010131|ICD10:G60.0|OMIM:604484|MESH:C535717	ordo_disease	hereditary motor and sensory neuropathy, proximal type, formerly|HMSNP|neuropathy, hereditary motor and sensory, Okinawa type; HMSNO|hereditary motor and sensory neuropathy, proximal type|HMSNO|neuropathy, hereditary motor and sensory, Okinawa type	http://purl.obolibrary.org/obo/MONDO_0011468	Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic.	UMLS:C1858338|ORPHA:90117|MESH:C535717|http://identifiers.org/omim/604484
HP:0012638	Abnormal nervous system physiology	biolink:PhenotypicFeature	mondo	UMLS:C4022811		Abnormality of nervous system physiology	http://purl.obolibrary.org/obo/HP_0012638	A functional anomaly of the nervous system.	
HP:0012639	Abnormal nervous system morphology	biolink:PhenotypicFeature	mondo	UMLS:C4022810|Fyler:4300|Fyler:4135		Abnormality of nervous system morphology|Abnormal nervous system morphology|Abnormal shape of nervous system	http://purl.obolibrary.org/obo/HP_0012639	A structural anomaly of the nervous system.	
MONDO:0011461	generalized epilepsy with febrile seizures plus, type 2	biolink:Disease	mondo	MESH:C565810|DOID:0111294|UMLS:C1858673|OMIM:604403		generalized epilepsy with febrile seizures plus, type 2|febrile seizures, familial caused by mutation in SCN1A|GEFSP2|SCN1A febrile seizures, familial|generalized epilepsy with febrile seizures plus, type 2; GEFSP2|Gefs+, type 2|febrile seizures, familial, 3A	http://purl.obolibrary.org/obo/MONDO_0011461	Any febrile seizures, familial in which the cause of the disease is a mutation in the SCN1A gene.	UMLS:C1858673|DOID:0111294|MESH:C565810|http://identifiers.org/omim/604403
MONDO:0011460	arrhythmogenic right ventricular dysplasia 6	biolink:Disease	mondo	UMLS:C1858378|DOID:0110075|MESH:C565775|ICD10:I42.8|OMIM:604401		arrhythmogenic right ventricular dysplasia, familial, 6|arrhythmogenic right ventricular cardiomyopathy 6|familial arrhythmogenic right ventricular dysplasia 6|ARVD6|arrhythmogenic right ventricular dysplasia, familial, 6; ARVD6|ARVC6|arrhythmogenic right ventricular dysplasia type 6	http://purl.obolibrary.org/obo/MONDO_0011460	An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12.	UMLS:C1858378|DOID:0110075|MESH:C565775|http://identifiers.org/omim/604401
CL:0000526	afferent neuron	biolink:Cell	mondo	FMA:87653		input neuron	http://purl.obolibrary.org/obo/CL_0000526	A neuron which conveys sensory information centrally from the periphery.	
CL:0000527	efferent neuron	biolink:Cell	mondo			output neuron	http://purl.obolibrary.org/obo/CL_0000527	A neuron which sends impulses peripherally to activate muscles or secretory cells.	
CL:0000529	pigmented epithelial cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000529		
UBERON:0009678	tooth row	biolink:AnatomicalEntity	mondo			row of teeth|tooth rows|dental arcade	http://purl.obolibrary.org/obo/UBERON_0009678	Anatomical cluster consisting of adjacent teeth constituting a row.	
HGNC:5542	IGHMBP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5542		
UBERON:0009679	set of lower jaw teeth	biolink:AnatomicalEntity	mondo			mandibular dental arcade|arcus dentalis inferior|lower dental arcade|set of all lower teeth|lower jaw teeth	http://purl.obolibrary.org/obo/UBERON_0009679	A tooth row that is part of a skeleton of lower jaw.	
UBERON:0007010	cleaving embryo	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0007010	Organism at the cleavage stage.	
UBERON:0009670	rectal lumen	biolink:AnatomicalEntity	mondo			lumen of rectum	http://purl.obolibrary.org/obo/UBERON_0009670	An anatomical space that surrounded_by a rectum.	
UBERON:0009671	nasal fin	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009671	The nasal fin is an epithelial seam that develops by fusion between the epithelial linings of the medial and lateral nasal swellings. Shortly after its formation the nasal fin regresses and is replaced by mesenchyme, with exception of its most posterior portion which remains as the bucconasal membrane.	
UBERON:0009672	oronasal membrane	biolink:AnatomicalEntity	mondo			bucconasal membrane	http://purl.obolibrary.org/obo/UBERON_0009672	The oronasal membrane separates the oral cavity and nasal cavity.	
UBERON:0009674	accessory XI nerve spinal component	biolink:AnatomicalEntity	mondo			spinal part of the accessory nerve	http://purl.obolibrary.org/obo/UBERON_0009674	The spinal root of accessory nerve (or part) is firm in texture, and its fibers arise from the motor cells in the lateral part of the anterior column of the gray substance of the medulla spinalis as low as the fifth cervical nerve. Passing through the lateral funiculus of the medulla spinalis, they emerge on its surface and unite to form a single trunk, which ascends between the ligamentum denticulatum and the posterior roots of the spinal nerves; enters the skull through the foramen magnum, and is then directed to the jugular foramen, through which it passes, lying in the same sheath of dura mater as the vagus, but separated from it by a fold of the arachnoid. In the jugular foramen, it receives one or two filaments from the cranial part of the nerve, or else joins it for a short distance and then separates from it again. As its exit from the jugular foramen, it runs backward in front of the internal jugular vein in 66.6 per cent. of cases, and behind in it 33.3 per cent. The nerve then descends obliquely behind the Digastricus and Stylohyoideus to the upper part of the Sternocleidomastoideus; it pierces this muscle, and courses obliquely across the posterior triangle of the neck, to end in the deep surface of the Trapezius. As it traverses the Sternocleidomastoideus it gives several filaments to the muscle, and joins with branches from the second cervical nerve. In the posterior triangle it unites with the second and third cervical nerves, while beneath the Trapezius it forms a plexus with the third and fourth cervical nerves, and from this plexus fibers are distributed to the muscle.	
UBERON:0009676	early telencephalic vesicle	biolink:AnatomicalEntity	mondo			early telencephalic ventricle|early telencephalic vesicle	http://purl.obolibrary.org/obo/UBERON_0009676		
HGNC:5541	IGHM	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5541		
NCBITaxon:5758	Entamoeba	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_5758		
NCBITaxon:5759	Entamoeba histolytica	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_5759		
NCBITaxon:5754	Acanthamoeba	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_5754		
NCBITaxon:5752	Heterolobosea	organism taxon	mondo	GC_ID:1		Lobosa	http://purl.obolibrary.org/obo/NCBITaxon_5752		
UBERON:0009668	ventral mesentery	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009668	Ventral mesentery is the part of the peritoneum closest to the navel.	
UBERON:0009669	embryonic cloacal lumen	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009669	An anatomical space that surrounded_by a embryonic cloaca.	
HGNC:10402	RPS19	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10402		
NCBITaxon:5761	Naegleria	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_5761		
UBERON:0009661	midbrain nucleus	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009661	Nucleus located in the midbrain.	
UBERON:0009662	hindbrain nucleus	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009662	Nucleus located within the hindbrain.	
CHEBI:39467	thiadiazole	biolink:ChemicalSubstance	mondo			thiadiazole	http://purl.obolibrary.org/obo/CHEBI_39467		
UBERON:0009663	telencephalic nucleus	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009663	A nucleus of brain that is part of a telencephalon.	
UBERON:0009664	gut mesentery	biolink:AnatomicalEntity	mondo			peritoneal cavity mesentary|peritoneal mesentary	http://purl.obolibrary.org/obo/UBERON_0009664		
UBERON:0007005	cardiogenic splanchnic mesoderm	biolink:AnatomicalEntity	mondo			cardiogenic mesoderm|cardiogenic splanchnopleure|heart primordia|cardiac mesoderm|cardiogenic region	http://purl.obolibrary.org/obo/UBERON_0007005	The splanchnic mesoderm in the cardiogenic region where the heart develops; it gives rise to endocardial heart tubes that fuse to form the primordial cardiac tube, the heart primordium[web]. Two migratory heart primordia that move ventrally during the course of neurulation, and then fuse[XAO].	
NCBITaxon:5721	Trichomonas	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_5721		
NCBITaxon:5722	Trichomonas vaginalis	organism taxon	mondo	GC_ID:1		Tritrichomonas vaginalis	http://purl.obolibrary.org/obo/NCBITaxon_5722		
CL:0000501	granulosa cell	biolink:Cell	mondo	CALOHA:TS-0729|FMA:18718|BTO:0000542		granulosa cell of ovary	http://purl.obolibrary.org/obo/CL_0000501	A supporting cell for the developing female gamete in the ovary of mammals. They develop from the coelomic epithelial cells of the gonadal ridge. Granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle. The major functions of granulosa cells include the production of steroids and LH receptors.	
CL:0000502	type D enteroendocrine cell	biolink:Cell	mondo	FMA:62935		D cell	http://purl.obolibrary.org/obo/CL_0000502	A cell found throughout the gastrointestinal tract and in the pancreas. They secrete somatostatin in both an endocrine and paracrine manner. Somatostatin inhibits gastrin, cholecystokinin, insulin, glucagon, pancreatic enzymes, and gastric hydrochloric acid. A variety of substances which inhibit gastric acid secretion (vasoactive intestinal peptide, calcitonin gene-related peptide, cholecystokinin, beta-adrenergic agonists, and gastric inhibitory peptide) are thought to act by releasing somatostatin.	
GO:1904222	positive regulation of serine C-palmitoyltransferase activity	biolink:OntologyClass	mondo			activation of serine C-palmitoyltransferase activity|up-regulation of serine C-palmitoyltransferase activity|upregulation of 3-oxosphinganine synthetase activity|upregulation of SPT|activation of SPT|up-regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|positive regulation of 3-oxosphinganine synthetase activity|upregulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|upregulation of serine C-palmitoyltransferase activity|up regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|up regulation of 3-oxosphinganine synthetase activity|up-regulation of SPT|positive regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|positive regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|up-regulation of 3-oxosphinganine synthetase activity|activation of 3-oxosphinganine synthetase activity|up regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|up regulation of SPT|up regulation of serine C-palmitoyltransferase activity|upregulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|activation of acyl-CoA:serine C-2 acyltransferase decarboxylating|positive regulation of SPT|activation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|up-regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity	http://purl.obolibrary.org/obo/GO_1904222	Any process that activates or increases the frequency, rate or extent of serine C-palmitoyltransferase activity.	
GO:1904221	negative regulation of serine C-palmitoyltransferase activity	biolink:OntologyClass	mondo			down regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|inhibition of 3-oxosphinganine synthetase activity|negative regulation of 3-oxosphinganine synthetase activity|down-regulation of 3-oxosphinganine synthetase activity|down-regulation of SPT|negative regulation of SPT|down regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|down regulation of serine C-palmitoyltransferase activity|downregulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|inhibition of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|down-regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|down regulation of SPT|inhibition of serine C-palmitoyltransferase activity|negative regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|down-regulation of serine C-palmitoyltransferase activity|downregulation of SPT|inhibition of acyl-CoA:serine C-2 acyltransferase decarboxylating|downregulation of 3-oxosphinganine synthetase activity|down-regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|negative regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|down regulation of 3-oxosphinganine synthetase activity|downregulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|inhibition of SPT|downregulation of serine C-palmitoyltransferase activity	http://purl.obolibrary.org/obo/GO_1904221	Any process that stops, prevents or reduces the frequency, rate or extent of serine C-palmitoyltransferase activity.	
UBERON:0009657	artery of lip	biolink:AnatomicalEntity	mondo			labial artery	http://purl.obolibrary.org/obo/UBERON_0009657		
GO:1904220	regulation of serine C-palmitoyltransferase activity	biolink:OntologyClass	mondo			regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|regulation of serine palmitoyltransferase|regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|regulation of SPT|regulation of 3-oxosphinganine synthetase activity	http://purl.obolibrary.org/obo/GO_1904220	Any process that modulates the frequency, rate or extent of serine C-palmitoyltransferase activity.	
UBERON:0009651	nephron tubule basement membrane	biolink:AnatomicalEntity	mondo			kidney tubule basement membrane|renal tubular basement membrane|renal tubule basement membrane	http://purl.obolibrary.org/obo/UBERON_0009651	A basement membrane that is part of a nephron tubule.	
UBERON:0009652	bronchus basement membrane	biolink:AnatomicalEntity	mondo			bronchial basement membrane	http://purl.obolibrary.org/obo/UBERON_0009652	A basement membrane that is part of a bronchus.	
UBERON:0009653	trachea basement membrane	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009653	A basement membrane that is part of a trachea.	
UBERON:0009655	auricular artery	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009655	An artery that supplies oxygenated blood to the ear.	
NCBITaxon:37020	Oryzomys palustris	organism taxon	mondo	GC_ID:1		marsh rice rat	http://purl.obolibrary.org/obo/NCBITaxon_37020		
CL:0000514	smooth muscle myoblast	biolink:Cell	mondo	FMA:84798		myoblast, smooth muscle|satellite cell	http://purl.obolibrary.org/obo/CL_0000514	A precursor cell destined to differentiate into smooth muscle myocytes.	
GO:1904228	positive regulation of glycogen synthase activity, transferring glucose-1-phosphate	biolink:OntologyClass	mondo			upregulation of glycogen synthase activity, transferring glucose-1-phosphate|up regulation of glycogen synthase activity, transferring glucose-1-phosphate|activation of glycogen synthase activity, transferring glucose-1-phosphate|up-regulation of glycogen synthase activity, transferring glucose-1-phosphate	http://purl.obolibrary.org/obo/GO_1904228	Any process that activates or increases the frequency, rate or extent of glycogen synthase activity, transferring glucose-1-phosphate.	
GO:1904227	negative regulation of glycogen synthase activity, transferring glucose-1-phosphate	biolink:OntologyClass	mondo			inhibition of glycogen synthase activity, transferring glucose-1-phosphate|down-regulation of glycogen synthase activity, transferring glucose-1-phosphate|downregulation of glycogen synthase activity, transferring glucose-1-phosphate|down regulation of glycogen synthase activity, transferring glucose-1-phosphate	http://purl.obolibrary.org/obo/GO_1904227	Any process that stops, prevents or reduces the frequency, rate or extent of glycogen synthase activity, transferring glucose-1-phosphate.	
NCBITaxon:2501931	Orthocoronavirinae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2501931		
NCBITaxon:40674	Mammalia	organism taxon	mondo	GC_ID:1		mammals|mammals	http://purl.obolibrary.org/obo/NCBITaxon_40674		
GO:1904226	regulation of glycogen synthase activity, transferring glucose-1-phosphate	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1904226	Any process that modulates the frequency, rate or extent of glycogen synthase activity, transferring glucose-1-phosphate.	
NCBITaxon:5738	Diplomonadida	organism taxon	mondo	GC_ID:1		diplomonads|diplomonads	http://purl.obolibrary.org/obo/NCBITaxon_5738		
NCBITaxon:5739	Hexamitidae	organism taxon	mondo	GC_ID:6			http://purl.obolibrary.org/obo/NCBITaxon_5739		
UBERON:0009647	tympanic membrane epithelium	biolink:AnatomicalEntity	mondo			tympanic epithelium|tympanic membrane epithelial layer	http://purl.obolibrary.org/obo/UBERON_0009647	One of the two epithelia which make up the tympanic membrane (along with the fibrous layer)	
CHEBI:39447	pyrimidines	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_39447	Any compound having a pyrimidine as part of its structure.	
UBERON:0009648	eyelid subcutaneous connective tissue	biolink:AnatomicalEntity	mondo			superficial fascia of eyelid	http://purl.obolibrary.org/obo/UBERON_0009648	A eyelid connective tissue that is part of a hypodermis.	
CL:0000511	androgen binding protein secreting cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000511	A peptide hormone secreting cell that secretes androgen binding protein.	
NCBITaxon:5740	Giardia	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_5740		
UBERON:0009640	hypophyseal cartilage	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009640	forms around the developing pituitary, and together with prechordal cartilages creates body of sphenoid bone	
UBERON:0009644	trachea non-cartilage connective tissue	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009644		
MONDO:0011405	poikiloderma with neutropenia	biolink:Disease	mondo	GARD:0004085|DOID:0060551|ICD10:D82.8|OMIM:604173|Orphanet:221046	ordo_disease	poikiloderma with neutropenia, Clericuzio-type|poikiloderma with neutropenia; PN|poikiloderma with neutropenia, Clericuzio type|Clericuzio type poikiloderma with neutropenia|PN|poikiloderma with neutropenia|poikiloderma with neutropenia Clericuzio type	http://purl.obolibrary.org/obo/MONDO_0011405	A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13.	http://identifiers.org/omim/604173|DOID:0060551|ORPHA:221046
MONDO:0011404	Caronte	biolink:Disease	mondo	OMIM:604172		Caronte|Car	http://purl.obolibrary.org/obo/MONDO_0011404		http://identifiers.org/omim/604172
MONDO:0011407	facial paresis, hereditary congenital, 2	biolink:Disease	mondo	OMIM:604185|UMLS:C1858717		Mobius syndrome 3, formerly|Moebius syndrome 3, formerly|Mobius syndrome 3|Moebius syndrome 3|facial paresis, hereditary congenital, 2; HCFP2|facial paresis, hereditary congenital, 2|HCFP2	http://purl.obolibrary.org/obo/MONDO_0011407		UMLS:C1858717|http://identifiers.org/omim/604185
MONDO:0011406	cholesteatoma, congenital	biolink:Disease	mondo	MESH:C562858|SCTID:232262007|OMIM:604183		cholesteatoma, congenital	http://purl.obolibrary.org/obo/MONDO_0011406		SNOMEDCT:232262007|http://identifiers.org/omim/604183|MESH:C562858
MONDO:0011409	hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection	biolink:Disease	mondo	OMIM:604201	predisposition	Sm2|hepatic fibrosis, Severe, susceptibility to, due to Schistosoma japonicum infection|hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection	http://purl.obolibrary.org/obo/MONDO_0011409		http://identifiers.org/omim/604201
MONDO:0011408	hereditary spastic paraplegia 10	biolink:Disease	mondo	UMLS:C4518536|UMLS:C1858712|SCTID:732948003|GARD:0009590|OMIM:604187|DOID:0110763|MESH:C537482|Orphanet:100991|ICD10:G11.4	ordo_disease	spastic paraplegia 10, autosomal dominant; SPG10|hereditary spastic paraplegia type 10|spastic paraplegia 10|KIF5A hereditary spastic paraplegia|autosomal dominant spastic paraplegia 10|autosomal dominant spastic paraplegia|autosomal dominant spastic paraplegia type 10|SPG10|hereditary spastic paraplegia caused by mutation in KIF5A|spastic paraplegia 10 with or without peripheral neuropathy|spastic paraplegia 10, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0011408	Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case.	ORPHA:100991|UMLS:C1858712|MESH:C537482|http://identifiers.org/omim/604187|DOID:0110763|SNOMEDCT:732948003|UMLS:C4518536
UBERON:0010698	manual digit metacarpus pre-cartilage condensation	biolink:AnatomicalEntity	mondo			hand digit metacarpus pre-cartilage condensation|metacarpus pre-cartilage condensation|metacarpal bone pre-cartilage condensation|fore limb digit metacarpus pre-cartilage condensation|metacarpal pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0010698		
MONDO:0011410	Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly	biolink:Disease	mondo	MESH:C565817|OMIM:604211|UMLS:C1858696		Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly	http://purl.obolibrary.org/obo/MONDO_0011410		MESH:C565817|http://identifiers.org/omim/604211|UMLS:C1858696
UBERON:0010699	manual digit metacarpus cartilage element	biolink:AnatomicalEntity	mondo			finger metacarpus cartilage element|metacarpus cartilage element|metacarpal cartilage element|fore limb digit metacarpus cartilage element|hand digit metacarpus cartilage element|metacarpal cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0010699		
MONDO:0011412	familial encephalopathy with neuroserpin inclusion bodies	biolink:Disease	mondo	SCTID:702421006|UMLS:C1858680|OMIM:604218|ICD10:G31.8|ICD9:348.39|Orphanet:85110|DOID:0050831|GARD:0010037|MESH:C536841	gard_rare|ordo_disease	FENIB|encephalopathy, familial, with neuroserpin inclusion bodies; FENIB|encephalopathy, familial, with Collins bodies|encephalopathy, familial, with neuroserpin inclusion bodies	http://purl.obolibrary.org/obo/MONDO_0011412		DOID:0050831|MESH:C536841|http://identifiers.org/omim/604218|UMLS:C1858680|SNOMEDCT:702421006|ORPHA:85110
MONDO:0011411	Chudley-McCullough syndrome	biolink:Disease	mondo	OMIM:604213|GARD:0000086|UMLS:C1858695|Orphanet:314597|MESH:C535459	gard_rare|ordo_malformation_syndrome	CMCS|Chudley-McCullough syndrome|Chudley-McCullough syndrome; CMCS|deafness, autosomal recessive 82, formerly|deafness, autosomal recessive 82|deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts|deafness, bilateral sensorineural, and hydrocephalus due to foramen of Monro obstruction	http://purl.obolibrary.org/obo/MONDO_0011411		MESH:C535459|ORPHA:314597|http://identifiers.org/omim/604213|UMLS:C1858695
MONDO:0011414	Peters anomaly (disease)	biolink:Disease	mondo	MedDRA:10059202|MESH:C537884|DOID:0060673|ICD9:743.44|SCTID:204153003|ICD10:Q13.4|OMIM:604229|GARD:0007377|HP:0000659|Orphanet:708	ordo_morphological_anomaly	Peters anomaly|anterior segment dysgenesis 5|anterior segment dysgenesis 5; ASGD5|Peters anomaly|Peters congenital glaucoma|ASGD5	http://purl.obolibrary.org/obo/MONDO_0011414	Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane.	MEDDRA:10059202|MESH:C537884|ORPHA:708|http://identifiers.org/omim/604229|DOID:0060673|SNOMEDCT:204153003
MONDO:0011413	cataract 9 multiple types	biolink:Disease	mondo	OMIM:604219|DOID:0110266|ICD10:Q12.0|UMLS:C1858679		cataract 9, multiple types|cataract 9, multiple types, with or without microcornea|CTRCT9|cataract, autosomal recessive congenital 1|CRYAA cataract (disease)|cataract, autosomal dominant|cataract 9 multiple types with or without microcornea|cataract 9, multiple types; CTRCT9|cataract (disease) caused by mutation in CRYAA|CATC1|autosomal recessive congenital cataract 1	http://purl.obolibrary.org/obo/MONDO_0011413	Any cataract (disease) in which the cause of the disease is a mutation in the CRYAA gene.	DOID:0110266|http://identifiers.org/omim/604219|UMLS:C1858679
NCBITaxon:5794	Apicomplexa	organism taxon	mondo	GC_ID:1		apicomplexans|apicomplexans	http://purl.obolibrary.org/obo/NCBITaxon_5794		
NCBITaxon:52651	Chabertiidae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_52651		
NCBITaxon:5799	Eimeriidae	organism taxon	mondo	GC_ID:1		Eimeriids	http://purl.obolibrary.org/obo/NCBITaxon_5799		
NCBITaxon:5796	Coccidia	organism taxon	mondo	GC_ID:1		coccidians	http://purl.obolibrary.org/obo/NCBITaxon_5796		
UBERON:0010693	pedal digit 1 epithelium	biolink:AnatomicalEntity	mondo			pedal digit I epithelium|foot digit 1 epithelium|hind limb digit 1 epithelium	http://purl.obolibrary.org/obo/UBERON_0010693	An epithelium that is part of a pedal digit 1.	
UBERON:0010690	manual digit 1 epithelium	biolink:AnatomicalEntity	mondo			fore limb digit 1 epithelium|hand digit 1 epithelium|manual digit I epithelium	http://purl.obolibrary.org/obo/UBERON_0010690	An epithelium that is part of a manual digit 1.	
UBERON:0010696	skeleton of pedal acropodium	biolink:AnatomicalEntity	mondo			phalanges of foot|set of phalanges of pes|hind acropodium skeleton|posterior acropodium|set of pedal phalanges|foot digit skeleton|posterior acropodium skeleton|set of phalanges of foot|all phalanges in hindlimb autopod|phalanges of pes|pedal phalanges	http://purl.obolibrary.org/obo/UBERON_0010696	The subdivision of the skeleton that consists of all the skeletal elements at the distalmost end of the pedal autopodium - i.e. the bones of the foot or their cartilaginous precursors[cjm].	
HP:0000606	Abnormality of the periorbital region	biolink:PhenotypicFeature	mondo	UMLS:C4025837		Anomaly of the periorbital region|Abnormality of the region around the eye socket|Malformation of the periorbital region|Deformity of the periorbital region|Abnormality of the region around the eye	http://purl.obolibrary.org/obo/HP_0000606	An abnormality of the region situated around the orbit of the eye.	
UBERON:0010697	pedal digit metatarsal cartilage element	biolink:AnatomicalEntity	mondo			hind limb digit metatarsal cartilage condensation|foot digit metatarsal cartilage condensation|metatarsal cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0010697		
HP:0000608	Macular degeneration	biolink:PhenotypicFeature	mondo	UMLS:C0024437|SNOMEDCT_US:422338006		Pigmented macular degeneration	http://purl.obolibrary.org/obo/HP_0000608	A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.	
UBERON:0010695	mesenchyme of tarsal region	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010695	Mesenchyme of the carpal region that contributes to the tarsal skeleton.	
GO:1904255	negative regulation of iron ion transmembrane transporter activity	biolink:OntologyClass	mondo			inhibition of iron cation channel activity|negative regulation of iron cation channel activity|down-regulation of iron cation channel activity|inhibition of iron channel activity|downregulation of iron channel activity|downregulation of iron-specific channel activity|downregulation of iron cation channel activity|down-regulation of iron channel activity|negative regulation of iron channel activity|down regulation of iron-specific channel activity|inhibition of iron-specific channel activity|negative regulation of iron-specific channel activity|down regulation of iron cation channel activity|down-regulation of iron-specific channel activity|down regulation of iron channel activity	http://purl.obolibrary.org/obo/GO_1904255	Any process that stops, prevents or reduces the frequency, rate or extent of an iron transmembrane transporter activity.	
GO:1904254	regulation of iron ion transmembrane transporter activity	biolink:OntologyClass	mondo			regulation of iron channel activity|regulation of iron-specific channel activity|regulation of iron cation channel activity	http://purl.obolibrary.org/obo/GO_1904254	Any process that modulates the frequency, rate or extent of an iron transmembrane transporter activity.	
GO:1904253	positive regulation of bile acid metabolic process	biolink:OntologyClass	mondo			upregulation of bile acid metabolic process|activation of bile acid metabolism|up-regulation of bile acid metabolism|up-regulation of bile acid metabolic process|upregulation of bile acid metabolism|up regulation of bile acid metabolic process|activation of bile acid metabolic process|positive regulation of bile acid metabolism|up regulation of bile acid metabolism	http://purl.obolibrary.org/obo/GO_1904253	Any process that activates or increases the frequency, rate or extent of bile acid metabolic process.	
UBERON:0010687	pedal digit metatarsal pre-cartilage condensation	biolink:AnatomicalEntity	mondo			foot digit metatarsal pre-cartilage condensation|metatarsus pre-cartilage condensation|metatarsal pre-cartilage condensation|metatarsal bone pre-cartilage condensation|hind limb digit metatarsal pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0010687		
GO:1904252	negative regulation of bile acid metabolic process	biolink:OntologyClass	mondo			downregulation of bile acid metabolism|down regulation of bile acid metabolic process|down regulation of bile acid metabolism|downregulation of bile acid metabolic process|inhibition of bile acid metabolism|inhibition of bile acid metabolic process|negative regulation of bile acid metabolism|down-regulation of bile acid metabolism|down-regulation of bile acid metabolic process	http://purl.obolibrary.org/obo/GO_1904252	Any process that stops, prevents or reduces the frequency, rate or extent of bile acid metabolic process.	
UBERON:0010688	skeleton of manual acropodium	biolink:AnatomicalEntity	mondo			fore acropodium skeleton|anterior acropodium|phalanges of hand|manual phalanges|manual digit skeleton|anterior acropodium skeleton|phalanges of manus|set of manual phalanges|all phalanges in forelimb autopod|set of phalanges of manus|set of phalanges of hand|hand digit skeleton	http://purl.obolibrary.org/obo/UBERON_0010688	The subdivision of the skeleton that consists of all the skeletal elements at the distalmost end of the manual autopodium - i.e. the bones of the hands or their cartilaginous precursors[VSAO,modified].	
MONDO:0011401	Alzheimer disease without neurofibrillary tangles	biolink:Disease	mondo	GARD:0007190|MESH:C536599|OMIM:604154|UMLS:C1858751		Alzheimer's disease without neurofibrillary tangles|Alzheimer disease without neurofibrillary tangles	http://purl.obolibrary.org/obo/MONDO_0011401		MESH:C536599|http://identifiers.org/omim/604154|UMLS:C1858751
GO:1904251	regulation of bile acid metabolic process	biolink:OntologyClass	mondo			regulation of bile acid metabolism	http://purl.obolibrary.org/obo/GO_1904251	Any process that modulates the frequency, rate or extent of bile acid metabolic process.	
MONDO:0011400	dilated cardiomyopathy 1G	biolink:Disease	mondo	DOID:0110430|UMLS:C1858763|OMIM:604145|MESH:C565824|ICD10:I42.0		cardiomyopathy, dilated, 1G; CMD1G|cardiomyopathy, dilated, 1G|CMD1G|familial isolated dilated cardiomyopathy caused by mutation in TTN|dilated cardiomyopathy type 1G|TTN familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, type 1G	http://purl.obolibrary.org/obo/MONDO_0011400	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TTN gene.	MESH:C565824|DOID:0110430|http://identifiers.org/omim/604145|UMLS:C1858763
MONDO:0011403	left ventricular noncompaction 1	biolink:Disease	mondo	OMIM:604169|UMLS:C1858725		DTNA left ventricular noncompaction|left ventricular noncompaction 1; LVNC1|left ventricular noncompaction 1 with or without congenital heart defects|left ventricular noncompaction type 1|LVNC1|left ventricular noncompaction 1|left ventricular noncompaction caused by mutation in DTNA	http://purl.obolibrary.org/obo/MONDO_0011403	Any left ventricular noncompaction in which the cause of the disease is a mutation in the DTNA gene.	http://identifiers.org/omim/604169|UMLS:C1858725
MONDO:0011402	congenital cataracts-facial dysmorphism-neuropathy syndrome	biolink:Disease	mondo	OMIM:604168|ICD9:759.89|UMLS:C1858726|ICD10:Q87.8|SCTID:702433001|MESH:C565822|Orphanet:48431	ordo_malformation_syndrome	congenital cataracts, facial dysmorphism, and neuropathy|congenital cataracts, facial dysmorphism, and neuropathy; CCFDN|CCFDN|cataract, congenital, with Facial Dysmorphism and neuropathy	http://purl.obolibrary.org/obo/MONDO_0011402	Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.	SNOMEDCT:702433001|MESH:C565822|http://identifiers.org/omim/604168|ORPHA:48431|UMLS:C1858726
NCBITaxon:5765	Vahlkampfiidae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_5765		
NCBITaxon:5763	Naegleria fowleri	organism taxon	mondo	GC_ID:1		brain-eating amoeba	http://purl.obolibrary.org/obo/NCBITaxon_5763		
UBERON:0010680	pedal digit 1 phalanx cartilage element	biolink:AnatomicalEntity	mondo			foot digit 1 phalanx cartilage element|pedal digit I phalanx cartilage element|hind limb digit 1 phalanx cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0010680	A cartilage element that is part of a pedal digit 1 mesenchyme.	
UBERON:0010685	pedal digit phalanx cartilage element	biolink:AnatomicalEntity	mondo			hind limb digit phalanx cartilage condensation|foot digit phalanx cartilage element	http://purl.obolibrary.org/obo/UBERON_0010685	A cartilage element that is part of a pedal digit mesenchyme.	
UBERON:0010686	manual digit phalanx cartilage element	biolink:AnatomicalEntity	mondo			fore limb digit phalanx cartilage condensation|hand digit phalanx cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0010686	A cartilage element that is part of a manual digit mesenchyme.	
UBERON:0010684	pedal digit 5 phalanx cartilage element	biolink:AnatomicalEntity	mondo			pedal digit V phalanx cartilage element|hind limb digit 5 phalanx cartilage condensation|foot digit 5 phalanx cartilage element	http://purl.obolibrary.org/obo/UBERON_0010684	A cartilage element that is part of a pedal digit 5 mesenchyme.	
GO:1904256	positive regulation of iron ion transmembrane transporter activity	biolink:OntologyClass	mondo			upregulation of iron-specific channel activity|upregulation of iron cation channel activity|positive regulation of iron-specific channel activity|up-regulation of iron channel activity|up regulation of iron-specific channel activity|up regulation of iron channel activity|positive regulation of iron cation channel activity|positive regulation of iron transmembrane transporter activity|activation of iron channel activity|up regulation of iron cation channel activity|up-regulation of iron-specific channel activity|positive regulation of iron channel activity|activation of iron-specific channel activity|up-regulation of iron cation channel activity|activation of iron cation channel activity|upregulation of iron channel activity	http://purl.obolibrary.org/obo/GO_1904256	Any process that activates or increases the frequency, rate or extent of an iron transmembrane transporter activity.	
UBERON:0007037	mechanosensory system	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0007037		
UBERON:0010679	manual digit 5 phalanx cartilage element	biolink:AnatomicalEntity	mondo			fore limb digit 5 phalanx cartilage condensation|manual digit V phalanx cartilage element|hand digit 5 phalanx cartilage element	http://purl.obolibrary.org/obo/UBERON_0010679	A cartilage element that is part of a manual digit 5 mesenchyme.	
UBERON:0009692	lumen of pharyngotympanic tube	biolink:AnatomicalEntity	mondo			lumen of eustachian tube|pharyngotympanic tube lumen|auditory tube lumen|lumen of auditory tube	http://purl.obolibrary.org/obo/UBERON_0009692	A organ cavity that is part of a pharyngotympanic tube.	
UBERON:0009695	epithelium of laryngopharynx	biolink:AnatomicalEntity	mondo			laryngopharynx epithelium|epithelium of laryngeal pharynx	http://purl.obolibrary.org/obo/UBERON_0009695	A epithelium that is part of a hypopharynx.	
UBERON:0009697	epithelium of appendix	biolink:AnatomicalEntity	mondo			appendix epithelium|epithelium of vermiform appendix	http://purl.obolibrary.org/obo/UBERON_0009697	A epithelium that is part of a vermiform appendix.	
UBERON:0009680	set of upper jaw teeth	biolink:AnatomicalEntity	mondo			set of all upper teeth|upper dental arcade|maxillary dental arcade|upper jaw teeth|arcus dentalis superior	http://purl.obolibrary.org/obo/UBERON_0009680	A tooth row that is part of a skeleton of upper jaw.	
UBERON:0010675	manual digit 1 phalanx cartilage element	biolink:AnatomicalEntity	mondo			manual digit I phalanx cartilage element|fore limb digit 1 phalanx cartilage condensation|hand digit 1 phalanx cartilage element	http://purl.obolibrary.org/obo/UBERON_0010675	A cartilage element that is part of a manual digit 1 mesenchyme.	
UBERON:0007026	presumptive gut	biolink:AnatomicalEntity	mondo			primordial digestive tube|embryonic digestive tube|future digestive tube|primitive gut|future digestive tract|primordial gut|future gut	http://purl.obolibrary.org/obo/UBERON_0007026		
UBERON:0007023	adult organism	biolink:AnatomicalEntity	mondo			adult|adults	http://purl.obolibrary.org/obo/UBERON_0007023	A multicellular organism that existence_ends_with a post-juvenile adult stage and existence_starts_with a post-juvenile adult stage.	
UBERON:0007021	sexually immature organism	biolink:AnatomicalEntity	mondo			juveniles|juvenile organism|juvenile	http://purl.obolibrary.org/obo/UBERON_0007021	A multicellular organism that is at the juvenile stage.	
UBERON:0009708	dorsal pancreas	biolink:AnatomicalEntity	mondo			pancreatis dorsalis	http://purl.obolibrary.org/obo/UBERON_0009708		
UBERON:0009709	ventral pancreas	biolink:AnatomicalEntity	mondo			pancreatis ventralis	http://purl.obolibrary.org/obo/UBERON_0009709		
NCBITaxon:573	Klebsiella pneumoniae	organism taxon	mondo	PMID:1581186|GC_ID:11|PMID:11411715		Bacterium pneumoniae crouposae|Klebsiella pneumoniae aerogenes|Bacillus pneumoniae|'Klebsiella aerogenes' (Kruse) Taylor et al. 1956|Hyalococcus pneumoniae	http://purl.obolibrary.org/obo/NCBITaxon_573		
UBERON:0009712	endocardium of right ventricle	biolink:AnatomicalEntity	mondo			right ventricle endocardial tissue|endocardial lining of right ventricle|right ventricle endocardium|right ventricular endocardium	http://purl.obolibrary.org/obo/UBERON_0009712	Any endocardium that is part of the right ventricle of the heart.	
UBERON:0009713	endocardium of left ventricle	biolink:AnatomicalEntity	mondo			left ventricle endocardium|left ventricular endocardium|endocardial lining of left ventricle|left ventricle endocardial tissue	http://purl.obolibrary.org/obo/UBERON_0009713	Any endocardium that is part of the left ventricle of the heart.	
UBERON:0009715	stomodeal lumen	biolink:AnatomicalEntity	mondo			lumen of stomodeum|stomatodeal cavity|lumen of stomatodaeum	http://purl.obolibrary.org/obo/UBERON_0009715	An anatomical cavity that surrounded_by a stomodeum.	
NCBITaxon:1963758	Myomorpha	organism taxon	mondo	GC_ID:1		Sciurognathi|mice and others	http://purl.obolibrary.org/obo/NCBITaxon_1963758		
NCBITaxon:570	Klebsiella	organism taxon	mondo	GC_ID:11|PMID:10555350|PMID:11411716|PMID:12635932		Hyalococcus|Calymmatobacterium|Donovania	http://purl.obolibrary.org/obo/NCBITaxon_570		
CHEBI:52395	oxyketone	biolink:ChemicalSubstance	mondo			oxyketones	http://purl.obolibrary.org/obo/CHEBI_52395	A compound with the general formula R2C=O (R=/=H) where one or more of the R groups contains an oxy (-O-) group.	
CHEBI:52396	alpha-oxyketone	biolink:ChemicalSubstance	mondo			alpha-oxyketones	http://purl.obolibrary.org/obo/CHEBI_52396	An oxyketone with the general formula R2C(=O) (R=/=H) where one or more of the R groups contains an oxy (-O-) group and the oxy and carbonyl groups are bonded to the same carbon atom.	
NCBITaxon:86056	Rhinocladiella mackenziei	organism taxon	mondo	GC_ID:1		Ramichloridium mackenziei	http://purl.obolibrary.org/obo/NCBITaxon_86056		
NCBITaxon:229219	Blastomyces	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_229219		
NCBITaxon:583	Proteus <enterobacteria>	organism taxon	mondo	GC_ID:11|PMID:26944634		Liquidobacterium|Proteus	http://purl.obolibrary.org/obo/NCBITaxon_583		
ENVO:00002186	contaminated water	biolink:OntologyClass	mondo			polluted water	http://purl.obolibrary.org/obo/ENVO_00002186		
GO:0003411	cell motility involved in camera-type eye morphogenesis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0003411	Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another and contributes to the physical shaping or formation of the camera-type eye.	
NCBITaxon:590	Salmonella	organism taxon	mondo	GC_ID:11|PMID:3231714|PMID:10939679|PMID:9731304|PMID:15653930|PMID:10319519|PMID:15653929|PMID:12072558			http://purl.obolibrary.org/obo/NCBITaxon_590		
CL:0000586	germ cell	biolink:Cell	mondo	BTO:0000535|VHOG:0001534|WBbt:0006796			http://purl.obolibrary.org/obo/CL_0000586	The reproductive cell in multicellular organisms.	
CL:0000595	enucleate erythrocyte	biolink:Cell	mondo			red blood cell|RBC	http://purl.obolibrary.org/obo/CL_0000595	An erythrocyte lacking a nucleus.	
CL:0000568	amine precursor uptake and decarboxylation cell	biolink:Cell	mondo	FMA:83114|BTO:0003866		APUD cell	http://purl.obolibrary.org/obo/CL_0000568	A cell that originates in the neural crest, that has certain cytochemical and ultrastructural characteristics and is found scattered throughout the body; types include melanocytes, the cells of the chromaffin system, and cells in the hypothalamus, hypophysis, thyroid, parathyroids, lungs, gastrointestinal tract, and pancreas. This cell type concentrates the amino acid precursors of certain amines and decarboxylate them, forming amines that function as regulators and neurotransmitters. This cell type produces substances such as epinephrine, norepinephrine, dopamine, serotonin, enkephalin, somatostatin, neurotensin, and substance P, the actions of which may affect contiguous cells, nearby groups of cells, or distant cells, thus functioning as local or systemic hormones. The name is an acronym for amine precursor uptake and decarboxylation cell.	
CL:0000569	cardiac mesenchymal cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000569	A mesenchymal cell found in the developing heart and that develops into some part of the heart.  These cells derive from intra- and extra-cardiac sources, including the endocardium, epicardium, neural crest, and second heart field.	
UBERON:0010740	bone of appendage girdle complex	biolink:AnatomicalEntity	mondo			bone of extended limb/fin region|limb bone	http://purl.obolibrary.org/obo/UBERON_0010740	A bone that is part of an appendage girdle complex (i.e. any bone in a limb, fin or girdle).	
UBERON:0010741	bone of pectoral complex	biolink:AnatomicalEntity	mondo			forelimb bone|bone of forelimb or pectoral fin or pectoral girdle|wing bone	http://purl.obolibrary.org/obo/UBERON_0010741	A bone that is part of a pectoral complex. Examples: scapula, manus phalanx, any carpal bone, any bone of the pectoral fin.	
CL:0000562	nucleate erythrocyte	biolink:Cell	mondo			red blood cell|RBC	http://purl.obolibrary.org/obo/CL_0000562	An erythrocyte having a nucleus.	
UBERON:0009758	abdominal ganglion	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009758	A ganglion that is part of a abdominal segment of trunk.	
CL:0000566	angioblastic mesenchymal cell	biolink:Cell	mondo			chondroplast|angioblast	http://purl.obolibrary.org/obo/CL_0000566	A mesenchymal stem cell capable of developing into blood vessel endothelium.	
UBERON:0009751	cardiac mesenchyme	biolink:AnatomicalEntity	mondo			heart mesenchyme	http://purl.obolibrary.org/obo/UBERON_0009751	The embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing cardiac structures	
UBERON:0009752	pancreas mesenchyme	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009752	The embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing pancreas	
MONDO:0060489	46,XX sex reversal 4	biolink:Disease	mondo	OMIM:617480|DOID:0111764		46,XX SEX reversal 4; SRXX4|SRXX4|46,XX Sex reversal, Sry-Negative	http://purl.obolibrary.org/obo/MONDO_0060489		DOID:0111764|http://identifiers.org/omim/617480
MONDO:0060486	arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	biolink:Disease	mondo	OMIM:617468		AMCNMY|arthrogryposis multiplex congenita, neurogenic, with myelin defect	http://purl.obolibrary.org/obo/MONDO_0060486		http://identifiers.org/omim/617468
MONDO:0060496	neurodevelopmental disorder with hypotonia, neuropathy, and deafness	biolink:Disease	mondo	UMLS:C4479603|OMIM:617519		NEDHND|neurodevelopmental disorder with hypotonia, neuropathy, and deafness; NEDHND|myopathy, Congenital, with neuropathy and Deafness	http://purl.obolibrary.org/obo/MONDO_0060496		UMLS:C4479603|http://identifiers.org/omim/617519
CL:0000570	parafollicular cell	biolink:Cell	mondo	SCTID:176770005|FMA:68653		C cell|parafollicular cell of thyroid gland|C cell of thyroid gland|thyroid parafollicular cell|clear cell of thyroid gland	http://purl.obolibrary.org/obo/CL_0000570	A neuroepithelial cells that occurs singly or in small groups, close to the outer follicular borders but within the follicular basement membrane of the thyroid. Expresses a form of the neural cell adhesion molecule (N-CAM) on their surface. Secretes calcitonin, 5-hydroxytryptamine and dopamine.	
UBERON:0009744	lymph node medullary sinus	biolink:AnatomicalEntity	mondo			medullary sinus|lymph node medullary sinusoid	http://purl.obolibrary.org/obo/UBERON_0009744	The channels in the lymph node medulla that separate the medullary cords and are crossed by a reticulum of cells and fibers and bounded by littoral cells; lymph flows through the medullary sinus from the cortical sinuses and into the efferent lymphatic vessels	
UBERON:0009745	lymph node medullary cord	biolink:AnatomicalEntity	mondo			medullary cord	http://purl.obolibrary.org/obo/UBERON_0009745	The dense rope-like structures of lymphatic tissue located between the medullary sinuses in the medulla of a lymph node	
UBERON:0010720	hindlimb zeugopod skeleton	biolink:AnatomicalEntity	mondo			hind epipodium|skeleton cruris|posterior zeugopodium|hindlimb zygopod skeleton|crural skeleton|mesomere 2 of pelvic appendage|posterior zeugopodium skeleton|crus skeleton|hindlimb epipodium	http://purl.obolibrary.org/obo/UBERON_0010720	Subdivision of skeleton consisting of all skeletal elements in an hindlimb zeugopod region. Typically consists of the tibia and the fibula.	
CL:0000573	retinal cone cell	biolink:Cell	mondo	FMA:67748|CALOHA:TS-0866|BTO:0001036			http://purl.obolibrary.org/obo/CL_0000573	One of the two photoreceptor cell types in the vertebrate retina. In cones the photopigment is in invaginations of the cell membrane of the outer segment. Cones are less sensitive to light than rods, but they provide vision with higher spatial and temporal acuity, and the combination of signals from cones with different pigments allows color vision.	
MONDO:0060491	neurodevelopmental disorder with involuntary movements	biolink:Disease	mondo	OMIM:617493		NEDIM|neurodevelopmental disorder with involuntary movements; NEDIM	http://purl.obolibrary.org/obo/MONDO_0060491		http://identifiers.org/omim/617493
UBERON:0009749	limb mesenchyme	biolink:AnatomicalEntity	mondo			limb mesoderm	http://purl.obolibrary.org/obo/UBERON_0009749	The primordial embryonic connective tissue of the developing limbs, autopods and digits, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to limb connective tissue, bone and musculature in conjunction with myotome cells.	
MONDO:0060490	neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	biolink:Disease	mondo	UMLS:C4479566|OMIM:617481		neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies; NMIHBA|NMIHBA	http://purl.obolibrary.org/obo/MONDO_0060490		http://identifiers.org/omim/617481|UMLS:C4479566
CL:0000576	monocyte	biolink:Cell	mondo	BTO:0000876|FMA:62864|CALOHA:TS-0638			http://purl.obolibrary.org/obo/CL_0000576	Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.	
UBERON:0010728	sphenoid lesser wing pre-cartilage condensation	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010728	A orbitosphenoid endochondral element that is composed primarily of a pre-cartilage condensation.	
UBERON:0009742	proamniotic cavity	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009742	The cavity of the developing embryo that is formed within the epiblast tissue prior to the closing of the proamniotic canal by the amniotic folds	
CL:0000547	proerythroblast	biolink:Cell	mondo	FMA:83518		rubriblast|pronormoblast	http://purl.obolibrary.org/obo/CL_0000547	An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers.	
CL:0000548	animal cell	biolink:Cell	mondo		_upper_level		http://purl.obolibrary.org/obo/CL_0000548		
CL:0000549	basophilic erythroblast	biolink:Cell	mondo	FMA:83505		early erythroblast|basophilic normoblast|early normoblast|prorubricyte	http://purl.obolibrary.org/obo/CL_0000549	A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers.	
UBERON:0010712	limb skeleton subdivision	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010712	Skeletal subdivision that is a segment of the limb skeleton.	
CL:0000540	neuron	biolink:Cell	mondo	BTO:0000938|CALOHA:TS-0683|FBbt:00005106|VHOG:0001483|FMA:54527|WBbt:0003679		nerve cell	http://purl.obolibrary.org/obo/CL_0000540	The basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system.	
CL:0000541	melanoblast	biolink:Cell	mondo	BTO:0003217|FMA:83377			http://purl.obolibrary.org/obo/CL_0000541	A cell that originates from the neural crest and differentiates into a pigment cell.	
CL:0000542	lymphocyte	biolink:Cell	mondo	CALOHA:TS-0583|FMA:62863|BTO:0000775|VHOG:0001535			http://purl.obolibrary.org/obo/CL_0000542	A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin.	
UBERON:0010714	iliac cartilage element	biolink:AnatomicalEntity	mondo			iliac cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0010714	A iliac endochondral element that is composed primarily of cartilage tissue.	
UBERON:0010719	girdle skeleton	biolink:AnatomicalEntity	mondo			skeleton of girdle	http://purl.obolibrary.org/obo/UBERON_0010719	The subdivision of the skeleton of either the pectoral or pelvic girdle.	
UBERON:0010718	pubic cartilage element	biolink:AnatomicalEntity	mondo			pubic cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0010718	A pubic endochondral element that is composed primarily of cartilage tissue.	
NCBITaxon:3193	Embryophyta	organism taxon	mondo	GC_ID:1		land plants|land plants|higher plants|plants	http://purl.obolibrary.org/obo/NCBITaxon_3193		
ENVO:00002149	sea water	biolink:OntologyClass	mondo			ocean water|seawater	http://purl.obolibrary.org/obo/ENVO_00002149	Water which has physicochemical properties that have been determined by the processes occuring in a sea or ocean.	
CL:0000556	megakaryocyte	biolink:Cell	mondo	CALOHA:TS-0611|FMA:83555|BTO:0000843		megalokaryocyte|megacaryocyte|megalocaryocyte	http://purl.obolibrary.org/obo/CL_0000556	A giant cell 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm.	
CL:0000557	granulocyte monocyte progenitor cell	biolink:Cell	mondo			CFU-GM|granulocyte-macrophage progenitor|granulocyte/monocyte progenitor|GMP|granulocyte/monocyte precursor|colony forming unit granulocyte macrophage|CFU-C , Colony forming unit in culture	http://purl.obolibrary.org/obo/CL_0000557	A hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages. These cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1.	
CL:0000558	reticulocyte	biolink:Cell	mondo	CALOHA:TS-0864|BTO:0001173			http://purl.obolibrary.org/obo/CL_0000558	An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds.	
CL:0000559	promonocyte	biolink:Cell	mondo	FMA:83551|BTO:0004657			http://purl.obolibrary.org/obo/CL_0000559	A precursor in the monocytic series, being a cell intermediate in development between the monoblast and monocyte. This cell is CD11b-positive and has fine azurophil granules.	
UBERON:0009722	entire pharyngeal arch endoderm	biolink:AnatomicalEntity	mondo			pharyngeal arch endoderm	http://purl.obolibrary.org/obo/UBERON_0009722		
UBERON:0010700	phalanx pre-cartilage condensation	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010700		
UBERON:0010701	phalanx cartilage element	biolink:AnatomicalEntity	mondo			phalanx cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0010701		
CL:0000550	polychromatophilic erythroblast	biolink:Cell	mondo	FMA:83506		polychromatophilic normoblast|intermediate erythroblast|polychromatic erythroblast|rubricyte|intermediate normoblast|polychromatic normoblast	http://purl.obolibrary.org/obo/CL_0000550	A nucleated, immature erythrocyte in which the nucleus occupies a relatively smaller part of the cell than in its precursor, the basophilic erythroblast. The cytoplasm is beginning to acquire hemoglobin and thus is no longer a purely basophilic, but takes on acidophilic aspects, which becomes progressively more marked as the cell matures. The chromatin of the nucleus is arranged in coarse, deeply staining clumps. This cell is CD71-positive and lacks hematopoeitic lineage markers.	
CL:0000552	orthochromatic erythroblast	biolink:Cell	mondo	FMA:84646		eosinophilic erythroblast|orthochromatic normoblast|acidophilic erythroblast|late erythoblast|pyknotic eto enrythroblast	http://purl.obolibrary.org/obo/CL_0000552	The final stage of the nucleated, immature erythrocyte, before nuclear loss. Typically the cytoplasm is described as acidophilic, but it still shows a faint polychromatic tint. The nucleus is small and initially may still have coarse, clumped chromatin, as in its precursor, the polychromatophilic erythroblast, but ultimately it becomes pyknotic, and appears as a deeply staining, blue-black, homogeneous structureless mass. The nucleus is often eccentric and sometimes lobulated.	
CL:0000553	megakaryocyte progenitor cell	biolink:Cell	mondo	CALOHA:TS-0610|BTO:0001164|FMA:84235		promegakaryocyte|CFU-Meg|megakaryocytic progenitor cell|colony-forming unit-megakaryocyte|MkP|megacaryocyte progenitor cell|megacaryoblast|promegacaryocyte|Meg-CFC|megakaryoblast	http://purl.obolibrary.org/obo/CL_0000553	The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative).	
UBERON:0010702	digit mesenchyme	biolink:AnatomicalEntity	mondo			digital ray	http://purl.obolibrary.org/obo/UBERON_0010702	Mesenchyme of the digit region.	
UBERON:0010703	forelimb zeugopod skeleton	biolink:AnatomicalEntity	mondo			anterior zeugopodium|fore epipodium|antebrachial skeleton|forelimb epipodium skeleton|mesomere 2 of pectoral appendage|forearm skeleton|radius and ulna|wing zeugopod skeleton|skeleton of forearm|anterior zeugopodium skeleton|fore epipodium skeleton|antebrachium skeleton|forelimb epipodium	http://purl.obolibrary.org/obo/UBERON_0010703	The collection of all skeletal elements in an forelimb zeugopod region.	
UBERON:0010708	pectoral complex	biolink:AnatomicalEntity	mondo			pectoral appendage/girdle complex|pectoral girdle plus anterior limb or fin|pectoral girdle plus pectoral limb or fin|upper limb and pectoral girdle|upper limb|upper limb and shoulder	http://purl.obolibrary.org/obo/UBERON_0010708	Appendage girdle complex that when present, encompasses the pectoral appendicular skeleton and the pectoral girdle.	
UBERON:0010709	pelvic complex	biolink:AnatomicalEntity	mondo			pelvic girdle plus posterior limb or fin|pelvic girdle plus pelvic limb or fin|pelvic appendage/girdle complex|lower limb|lower limb and pelvis|lower limb and pelvic girdle	http://purl.obolibrary.org/obo/UBERON_0010709	Appendage girdle complex that when present, encompasses the pelvic appendicular skeleton and the pelvic girdle.	
UBERON:0010707	appendage girdle complex	biolink:AnatomicalEntity	mondo			limb|girdle plus limb or fin|appendage/girdle complex|appendage-girdle complex|appendage complex	http://purl.obolibrary.org/obo/UBERON_0010707	An organism subdivision that includes both an appendage and its associated girdle region. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc).	
MONDO:0060457	autoinflammation with arthritis and dyskeratosis	biolink:Disease	mondo	OMIM:617388		AIADK|AUTOINFLAMMATION with arthritis and dyskeratosis; AIADK	http://purl.obolibrary.org/obo/MONDO_0060457		http://identifiers.org/omim/617388
MONDO:0060456	cerebral sclerosis, diffuse, scholz type	biolink:Disease	mondo	MESH:C564449|OMIM:302700		cerebral sclerosis, diffuse, scholz type	http://purl.obolibrary.org/obo/MONDO_0060456		http://identifiers.org/omim/302700|MESH:C564449
MONDO:0060455	X-linked congenital hemolytic anemia	biolink:Disease	mondo	OMIM:301015		hemolytic anemia, congenital, X-linked	http://purl.obolibrary.org/obo/MONDO_0060455		http://identifiers.org/omim/301015
HP:0000593	Abnormal anterior chamber morphology	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:204142009|UMLS:C3152182	hposlim_core	Ocular anterior chamber abnormality|Anterior chamber anomalies|Abnormality of the anterior chamber	http://purl.obolibrary.org/obo/HP_0000593	Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris.	
HP:0000598	Abnormality of the ear	biolink:PhenotypicFeature	mondo	UMLS:C0266589|SNOMEDCT_US:275259005	hposlim_core	Abnormality of the ear|Ear anomaly	http://purl.obolibrary.org/obo/HP_0000598	An abnormality of the ear.	
ENVO:01000155	organic material	biolink:OntologyClass	mondo			biomass	http://purl.obolibrary.org/obo/ENVO_01000155	Environmental material derived from living organisms and composed primarily of one or more biomacromolecules.	
NCBITaxon:506	Alcaligenaceae	organism taxon	mondo	GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_506		
HP:0012575	Abnormal nephron morphology	biolink:PhenotypicFeature	mondo	UMLS:C4022838		Abnormality of the nephron	http://purl.obolibrary.org/obo/HP_0012575	A structural anomaly of the nephron.	
NCBITaxon:517	Bordetella	organism taxon	mondo	GC_ID:11|PMID:11491321			http://purl.obolibrary.org/obo/NCBITaxon_517		
ENVO:01000179	desert biome	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000179	A desert biome is a terrestrial biome which loses more liquid water by evapotranspiration than is supplied by precipitation and includes communities adapted to these conditions.	
NCBITaxon:519	Bordetella parapertussis	organism taxon	mondo	GC_ID:11|PMID:8240949|PMID:8782670		Bacillus parapertussis|Haemophilus parapertussis|Acinetobacter parapertussis	http://purl.obolibrary.org/obo/NCBITaxon_519		
HP:0000572	Visual loss	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:7973008|UMLS:C3665386		Vision loss|Loss of vision|Visual loss	http://purl.obolibrary.org/obo/HP_0000572	Loss of visual acuity (implying that vision was better at a certain timepoint in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).	
ENVO:01000176	shrubland biome	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000176	A shrubland biome is a terrestrial biome which includes, across its entire spatial extent, dense groups of shrubs.	
ENVO:00002114	chemically enriched sediment	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_00002114	Sediment which has increased levels of one or more chemical compounds.	
NCBITaxon:520	Bordetella pertussis	organism taxon	mondo	PMID:8240949|GC_ID:11		Microbe de la coqueluche|Bacterium tussis-convulsivae|Hemophilus pertussis|Haemophilus pertussis	http://purl.obolibrary.org/obo/NCBITaxon_520		
MONDO:0023483	infectious myositis	biolink:Disease	mondo	SCTID:29689003|ICD9:728.0|GARD:0009131|NCIT:C26984	gard_rare	infective myositis|infectious myositis	http://purl.obolibrary.org/obo/MONDO_0023483	An infectious process affecting the skeletal muscles. It can be caused by viruses (including HIV), bacteria, fungi, and parasites. Symptoms include muscle weakness and muscle pain.	NCIT:C26984|SNOMEDCT:29689003
HP:0000587	Abnormality of the optic nerve	biolink:PhenotypicFeature	mondo	UMLS:C0029131	hposlim_core	optic nerve abnormalities|Optic nerve issue	http://purl.obolibrary.org/obo/HP_0000587	Abnormality of the optic nerve.	
NCBITaxon:39700	Trypanozoon	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_39700		
NCBITaxon:543	Enterobacteriaceae	organism taxon	mondo	PMID:16166704|PMID:10555334|PMID:10555323|PMID:27620848|GC_ID:11		Enterobacteraceae|gamma-3 proteobacteria	http://purl.obolibrary.org/obo/NCBITaxon_543		
NCBITaxon:562	Escherichia coli	organism taxon	mondo	GC_ID:11|PMID:10319482		E. coli|Enterococcus coli|Escherichia/Shigella coli|Bacillus coli|Bacterium coli|Bacterium coli commune	http://purl.obolibrary.org/obo/NCBITaxon_562		
HP:0012591	Abnormal urinary electrolyte concentration	biolink:PhenotypicFeature	mondo	UMLS:C4022833		Urinary electrolyte imbalance	http://purl.obolibrary.org/obo/HP_0012591	An abnormality in the concentration of electrolytes in the urine.	
NCBITaxon:561	Escherichia	organism taxon	mondo	GC_ID:11|PMID:19700542			http://purl.obolibrary.org/obo/NCBITaxon_561		
MONDO:0023310	obsolete hemiplegic migraine	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0023310		
UBERON:0019198	dorsal nerve of clitoris	biolink:AnatomicalEntity	mondo			dorsal nerve of the clitoris|nervus dorsalis clitoridis	http://purl.obolibrary.org/obo/UBERON_0019198	The deep terminal division of the pudendal nerve that runs along the dorsum of the clitoral shaft and innervates the the glans clitoris.	
UBERON:0019196	iliac artery endothelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0019196		
MONDO:0011328	obsolete autosomal dominant limb-girdle muscular dystrophy type 1E	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0011328		
MONDO:0011327	neuronal intranuclear inclusion disease	biolink:Disease	mondo	MESH:C537395|ICD10:G31.0|NCIT:C122655|SCTID:715437003|Orphanet:2289|OMIM:603472|GARD:0003971|UMLS:C1863843	ordo_disease|gard_rare	neuronal intranuclear inclusion disease|Niid|neuronal intranuclear hyaline inclusion disease	http://purl.obolibrary.org/obo/MONDO_0011327	Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss.	http://identifiers.org/omim/603472|ORPHA:2289|UMLS:C1863843|NCIT:C122655|MESH:C537395|SNOMEDCT:715437003
MONDO:0013989	developmental and epileptic encephalopathy, 14	biolink:Disease	mondo	DOID:0080439|OMIM:614959|UMLS:C3554195		early infantile epileptic encephalopathy caused by mutation in KCNT1|KCNT1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 14; EIEE14|epileptic encephalopathy, early infantile, 14|EIEE14|epileptic encephalopathy, early infantile, type 14|DEE14	http://purl.obolibrary.org/obo/MONDO_0013989	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNT1 gene.	http://identifiers.org/omim/614959|DOID:0080439|UMLS:C3554195
MONDO:0011329	cerebral palsy, spastic quadriplegic, 1	biolink:Disease	mondo	OMIM:603513|GARD:0010447|UMLS:C2751938|MESH:C567853	gard_rare	cerebral palsy, spastic quadriplegic, type 1|spastic quadriplegia caused by mutation in GAD1|GAD1 spastic quadriplegia|cerebral palsy spastic quadriplegic|cerebral palsy, spastic quadriplegic, 1|cerebral palsy, spastic quadriplegic, 1; CPSQ1|spastic quadriplegia cerebral palsy|CPSQ1|spastic quadriplegic cerebral palsy|spastic tetraplegia cerebral palsy	http://purl.obolibrary.org/obo/MONDO_0011329	Any spastic quadriplegia in which the cause of the disease is a mutation in the GAD1 gene.	UMLS:C2751938|http://identifiers.org/omim/603513|MESH:C567853
HP:0000759	Abnormal peripheral nervous system morphology	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:42658009|MSH:D010523|UMLS:C0031117|UMLS:C4025831|SNOMEDCT_US:302226006		Abnormal peripheral nervous system structure|Peripheral nervous system disease	http://purl.obolibrary.org/obo/HP_0000759	A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system).	
MONDO:0011331	congenital chylothorax	biolink:Disease	mondo	DOID:0060646|ICD10:I89.8|GARD:0010156|ICD9:511.89|UMLS:C0340014|SCTID:233646003|OMIM:603523|Orphanet:264688|MESH:C535461	gard_rare|ordo_disease	chylothorax, congenital|hydrothorax, congenital	http://purl.obolibrary.org/obo/MONDO_0011331	Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations.	SNOMEDCT:233646003|MESH:C535461|UMLS:C0340014|DOID:0060646|ORPHA:264688|http://identifiers.org/omim/603523
MONDO:0013994	Joubert syndrome 20	biolink:Disease	mondo	OMIM:614970|UMLS:C3554235|DOID:0110989		Joubert syndrome caused by mutation in TMEM231|Joubert syndrome 20|Joubert syndrome type 20|JBTS20|TMEM231 Joubert syndrome|Joubert syndrome 20; JBTS20	http://purl.obolibrary.org/obo/MONDO_0013994	Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM231 gene.	http://identifiers.org/omim/614970|UMLS:C3554235|DOID:0110989
GO:1904167		biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1904167		
HGNC:10597	SCN9A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10597		
MONDO:0013995	cholestasis, intrahepatic, of pregnancy 3	biolink:Disease	mondo	DOID:0070229|EFO:0009150|OMIM:614972|UMLS:C3554241		ICP3|cholestasis, intrahepatic, of pregnancy type 3|cholestasis, intrahepatic, of pregnancy 3; ICP3|cholestasis, intrahepatic, of pregnancy 3	http://purl.obolibrary.org/obo/MONDO_0013995		http://identifiers.org/omim/614972|UMLS:C3554241|DOID:0070229
MONDO:0011330	spinocerebellar ataxia type 10	biolink:Disease	mondo	ICD10:G11.2|Orphanet:98761|MESH:C566874|DOID:0050960|SCTID:715754007|GARD:0010474|UMLS:C4275023|OMIM:603516|UMLS:C1963674	ordo_disease	SCA10|spinocerebellar ataxia 10|spinocerebellar ataxia type 10|spinocerebellar ataxia 10; SCA10	http://purl.obolibrary.org/obo/MONDO_0011330	Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances.	ORPHA:98761|MESH:C566874|UMLS:C1963674|SNOMEDCT:715754007|DOID:0050960|http://identifiers.org/omim/603516|UMLS:C4275023
BSPO:0015014	immediately_superficial_to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BSPO_0015014		
HP:0000750	Delayed speech and language development	biolink:PhenotypicFeature	mondo	UMLS:C0233715|UMLS:C0454644|UMLS:C0241210|UMLS:C0023012|SNOMEDCT_US:29164008|SNOMEDCT_US:229721007|SNOMEDCT_US:62415009|SNOMEDCT_US:162294008|MSH:D007805		Delayed speech and language development|Delayed speech|Delayed speech development|Language delay|Language delayed|Speech and language difficulties|Impaired speech and language development|Speech delay|Poor speech acquisition|Speech difficulties|Poor speech development|Speech and language delay|Delayed language development|Late-onset speech development|Poor language development|Impaired speech development|Deficiency of speech development|Delayed speech acquisition|Language development deficit	http://purl.obolibrary.org/obo/HP_0000750	A degree of language development that is significantly below the norm for a child of a specified age.	
MONDO:0013992	obesity due to leptin receptor gene deficiency	biolink:Disease	mondo	NCIT:C120386|OMIM:614963|Orphanet:179494|UMLS:C3554225|ICD10:E66.8	ordo_disease	obesity, morbid, nonsyndromic 2|leptin receptor deficiency	http://purl.obolibrary.org/obo/MONDO_0013992		http://identifiers.org/omim/614963|NCIT:C120386|UMLS:C3554225|ORPHA:179494
MONDO:0011333	light fixation seizure syndrome	biolink:Disease	mondo	UMLS:C1863767|MESH:C566367|OMIM:603530		Lfss|light fixation seizure syndrome|M syndrome	http://purl.obolibrary.org/obo/MONDO_0011333		UMLS:C1863767|MESH:C566367|http://identifiers.org/omim/603530
MONDO:0011332	Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin	biolink:Disease	mondo	OMIM:603529|UMLS:C3807235		Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin	http://purl.obolibrary.org/obo/MONDO_0011332		UMLS:C3807235|http://identifiers.org/omim/603529
MONDO:0013993	pontocerebellar hypoplasia type 7	biolink:Disease	mondo	ICD10:Q04.3|Orphanet:284339|DOID:0060276|SCTID:718605009|OMIM:614969|UMLS:C3554226	ordo_malformation_syndrome	pontocerebellar hypoplasia, type 7|PCH7|pontocerebellar hypoplasia, type 7; PCH7|pontocerebellar hypoplasia-46,XY disorder of sex development syndrome|TOE1 non-syndromic pontocerebellar hypoplasia|non-syndromic pontocerebellar hypoplasia caused by mutation in TOE1	http://purl.obolibrary.org/obo/MONDO_0013993	Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.	http://identifiers.org/omim/614969|ORPHA:284339|UMLS:C3554226|DOID:0060276|SNOMEDCT:718605009
HGNC:10596	SCN8A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10596		
MONDO:0011335	spondyloepimetaphyseal dysplasia with multiple dislocations	biolink:Disease	mondo	UMLS:C1863732|SCTID:766820007|DOID:0112199|ICD10:Q77.7|MESH:C535784|Orphanet:93360|GARD:0009866|NCIT:C125419|OMIM:603546	gard_rare|ordo_disease	spondyloepimetaphyseal dysplasia with Joint laxity, leptodactylic type|spondyloepimetaphyseal dysplasia with Joint laxity, Hall type|spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type|spondyloepimetaphyseal dysplasia with Joint laxity, type 2|spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type|spondyloepimetaphyseal dysplasia with joint laxity type 2|SEMDJL2|SEMD-MD|spondyloepimetaphyseal dysplasia with multiple dislocations Hall type|spondyloepimetaphyseal dysplasia with joint laxicity, Hall type|spondyloepimetaphyseal dysplasia with JOINT laxity type 2|spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type|spondyloepimetaphyseal dysplasia with JOINT laxity type 2; SEMDJL2|spondyloepimetaphyseal dysplasia with JOINT laxity, type 2; SEMDJL2	http://purl.obolibrary.org/obo/MONDO_0011335	A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity.	SNOMEDCT:766820007|http://identifiers.org/omim/603546|ORPHA:93360|UMLS:C1863732|DOID:0112199|MESH:C535784|NCIT:C125419
MONDO:0013998	Carpenter syndrome 2	biolink:Disease	mondo	OMIM:614976|UMLS:C3554247		CRPT2|Carpenter syndrome type 2|MEGF8 Carpenter syndrome|Carpenter syndrome caused by mutation in MEGF8|Carpenter syndrome 2|CARPENTER syndrome 2; CRPT2	http://purl.obolibrary.org/obo/MONDO_0013998	Any Carpenter syndrome in which the cause of the disease is a mutation in the MEGF8 gene.	http://identifiers.org/omim/614976|UMLS:C3554247
HP:0000752	Hyperactivity	biolink:PhenotypicFeature	mondo	UMLS:C0424295|SNOMEDCT_US:44548000|MSH:D006948		Hyperactive behavior|More active than typical	http://purl.obolibrary.org/obo/HP_0000752	Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate.	
MONDO:0011334	limb-mammary syndrome	biolink:Disease	mondo	GARD:0010051|SCTID:721972001|OMIM:603543|Orphanet:69085|MESH:C535903	ordo_malformation_syndrome	LMS|mammary hypoplasia, ectrodactyly, and other hand/foot anomalies|LMS|limb-mammary syndrome|limb-mammary syndrome; LMS	http://purl.obolibrary.org/obo/MONDO_0011334	Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias.	UMLS:C1863753|SNOMEDCT:721972001|ORPHA:69085|MESH:C535903|http://identifiers.org/omim/603543
MONDO:0013999	optic nerve edema-splenomegaly syndrome	biolink:Disease	mondo	Orphanet:313800|UMLS:C3554278|OMIM:614979	ordo_disease	splenomegaly, cytopenia, and vision loss	http://purl.obolibrary.org/obo/MONDO_0013999	Optic nerve edema-splenomegaly syndrome is a rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.	http://identifiers.org/omim/614979|UMLS:C3554278|ORPHA:313800
MONDO:0011337	familial hemophagocytic lymphohistiocytosis 2	biolink:Disease	mondo	MESH:C537250|OMIM:603553|DOID:0110922|GARD:0009922	gard_rare	hemophagocytic lymphohistiocytosis, familial, type 2|PRF1 genetic hemophagocytic lymphohistiocytosis|Hplh2|Hlh2|hemophagocytic lymphohistiocytosis, familial, 2; FHL2|familial hemophagocytic lymphohistiocytosis type 2|hemophagocytic lymphohistiocytosis, familial, 2|HLH2|HPLH2|genetic hemophagocytic lymphohistiocytosis caused by mutation in PRF1|FHL2	http://purl.obolibrary.org/obo/MONDO_0011337	Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the PRF1 gene.	http://identifiers.org/omim/603553|MESH:C537250|DOID:0110922
MONDO:0013996	focal facial dermal dysplasia type II	biolink:Disease	mondo	OMIM:614973|Orphanet:398173|ICD10:Q82.8|UMLS:C3554245	ordo_clinical_subtype	focal facial dermal dysplasia 2, Brauer-Setleis type|Brauer-Setleis syndrome|focal facial dermal dysplasia 2, Brauer-Setleis type; FFDD2|FFDD2|FFDD type II	http://purl.obolibrary.org/obo/MONDO_0013996	Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities.	http://identifiers.org/omim/614973|ORPHA:398173|UMLS:C3554245
HGNC:10599	SCNN1A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10599		
MONDO:0011336	familial hemophagocytic lymphohistiocytosis 4	biolink:Disease	mondo	MESH:C537252|GARD:0009929|OMIM:603552|DOID:0110924	gard_rare	genetic hemophagocytic lymphohistiocytosis caused by mutation in STX11|hemophagocytic lymphohistiocytosis, familial, 4; FHL4|familial hemophagocytic lymphohistiocytosis type 4|HLH4|HPLH4|hemophagocytic lymphohistiocytosis, familial, 4|STX11 genetic hemophagocytic lymphohistiocytosis|FHL4|hemophagocytic lymphohistiocytosis, familial, type 4|Hlh4|Hplh4	http://purl.obolibrary.org/obo/MONDO_0011336	Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STX11 gene.	http://identifiers.org/omim/603552|MESH:C537252|DOID:0110924
MONDO:0013997	focal facial dermal dysplasia type IV	biolink:Disease	mondo	OMIM:614974|UMLS:C3554246|ICD10:Q82.8|Orphanet:398189	ordo_clinical_subtype	FFDD type IV|focal facial dermal dysplasia 4|FFDD4|focal facial dermal dysplasia 4; FFDD4|focal Facial dermal dysplasia type 4|focal facial preauricular dysplasia	http://purl.obolibrary.org/obo/MONDO_0013997	Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.	http://identifiers.org/omim/614974|ORPHA:398189|UMLS:C3554246
MONDO:0001999	primary pulmonary hypertension	biolink:Disease	mondo	DOID:14557|ICD9:416.0|ICD10:I27.0		pulmonary hypertension, primary	http://purl.obolibrary.org/obo/MONDO_0001999	Increased blood pressure in the arteries of the lungs; the etiology is unknown.	NCIT:C97119|DOID:14557
MONDO:0013990	pontocerebellar hypoplasia type 8	biolink:Disease	mondo	UMLS:C3554209|OMIM:614961|Orphanet:324569|SCTID:718611007|DOID:0060277|ICD10:Q04.3	ordo_malformation_syndrome	pontocerebellar hypoplasia due to CHMP1A mutation|pontocerebellar hypoplasia, type 8|non-syndromic pontocerebellar hypoplasia caused by mutation in CHMP1A|pontocerebellar hypoplasia, type 8; PCH8|CHMP1A non-syndromic pontocerebellar hypoplasia|PCH8	http://purl.obolibrary.org/obo/MONDO_0013990	A novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.	http://identifiers.org/omim/614961|SNOMEDCT:718611007|UMLS:C3554209|DOID:0060277|ORPHA:324569
UBERON:0019190	mucous gland of lung	biolink:AnatomicalEntity	mondo			peribronchial gland|bronchial mucous gland|bronchial gland	http://purl.obolibrary.org/obo/UBERON_0019190		
HGNC:10593	SCN5A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10593		
MONDO:0013991	obesity due to congenital leptin deficiency	biolink:Disease	mondo	OMIM:614962|GARD:0013015|Orphanet:66628|ICD10:E66.8|UMLS:C3554224|DOID:0111334	gard_rare|ordo_disease	LEPD|leptin deficiency or dysfunction|leptin deficiency or dysfunction; LEPD|obesity, morbid, nonsyndromic 1	http://purl.obolibrary.org/obo/MONDO_0013991	Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia.	http://identifiers.org/omim/614962|DOID:0111334|UMLS:C3554224|ORPHA:66628
HGNC:10591	SCN4A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10591		
HGNC:10592	SCN4B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10592		
UBERON:0019189	carotid artery endothelium	biolink:AnatomicalEntity	mondo			carotid epithelium|carotid endothelium	http://purl.obolibrary.org/obo/UBERON_0019189		
HP:0012730	Aglossia	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:74788000|UMLS:C0158663		Failure of development of tongue|Missing tongue|Absence of tongue	http://purl.obolibrary.org/obo/HP_0012730	Absence of the tongue owing to a developmental abnormality.	
MONDO:0023303	obsolete Hamanishi-Ueba-Tsuji syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0023303		
HP:0012732	Anorectal anomaly	biolink:PhenotypicFeature	mondo	UMLS:C3495676|MSH:D000071056|SNOMEDCT_US:33225004			http://purl.obolibrary.org/obo/HP_0012732	An abnormality of the anus or rectum.	
MONDO:0023305	heavy metal poisoning	biolink:Disease	mondo	GARD:0006577|EFO:1001518|SCTID:85866007|ICD9:985.8|MESH:C535854	gard_rare	toxic effect of heavy metal|heavy metal toxicity|heavy metal poisoning|chronic heavy metal poisoning|heavy metal toxicosis	http://purl.obolibrary.org/obo/MONDO_0023305	Heavy metal poisoning refers to when excessive exposure to a heavy metal affects the normal function of the body. Examples of heavy metals that can cause toxicity include lead, mercury, arsenic, cadmium, and chromium. Exposure may occur through the diet, from medications, from the environment, or in the course of work or play. Heavy metals can enter the body through the skin, or by inhalation or ingestion. Toxicity can result from sudden, severe exposure, or from chronic exposure over time. Symptoms can vary depending on the metal involved, the amount absorbed, and the age of the person exposed. For example, young children are more susceptible to the effects of lead exposure because they absorb more compared with adults and their brains are still developing. Nausea, vomiting, diarrhea, and abdominal pain are common symptoms of acute metal ingestion. Chronic exposure may cause various symptoms resulting from damage to body organs, and may increase the risk of cancer. Treatment depends on the circumstances of the exposure.	MESH:C535854|SNOMEDCT:85866007
MONDO:0011317	microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects	biolink:Disease	mondo	UMLS:C1863919|OMIM:603394|MESH:C566377		microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects	http://purl.obolibrary.org/obo/MONDO_0011317		http://identifiers.org/omim/603394|UMLS:C1863919|MESH:C566377
HP:0000766	Abnormal sternum morphology	biolink:PhenotypicFeature	mondo	UMLS:C1860493	hposlim_core	Sternal anomalies|Pectus excavatum or carinatum|Abnormality of the sternum|Pectus deformity|Pectus deformities|Pectus carinatum or pectus excavatum|Pectus excavatum or pectus carinatum|Pectus excavatum/carinatum	http://purl.obolibrary.org/obo/HP_0000766	An anomaly of the sternum, also known as the breastbone.	
MONDO:0011316	osteosclerotic chondrodysplasia, lethal, with intracellular inclusions	biolink:Disease	mondo	OMIM:603393|UMLS:C1863920|MESH:C566378		osteosclerotic chondrodysplasia, lethal, with intracellular inclusions	http://purl.obolibrary.org/obo/MONDO_0011316		http://identifiers.org/omim/603393|UMLS:C1863920|MESH:C566378
MONDO:0013978	autosomal recessive nonsyndromic deafness 70	biolink:Disease	mondo	DOID:0110521|UMLS:C1824925|ICD10:H90.3|OMIM:614934		deafness, autosomal recessive type 70|autosomal recessive nonsyndromic deafness type 70|deafness, autosomal recessive 70|PNPT1 autosomal recessive nonsyndromic deafness|DFNB70|autosomal recessive nonsyndromic deafness caused by mutation in PNPT1|deafness, autosomal recessive 70; DFNB70|autosomal recessive deafness 70	http://purl.obolibrary.org/obo/MONDO_0013978	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PNPT1 gene.	UMLS:C1824925|http://identifiers.org/omim/614934|DOID:0110521
HP:0000769	Abnormality of the breast	biolink:PhenotypicFeature	mondo	UMLS:C4025829	hposlim_core	Abnormality of the breast	http://purl.obolibrary.org/obo/HP_0000769	An abnormality of the breast.	
MONDO:0011319	activator of liver function 1	biolink:Disease	mondo	OMIM:603416		activator of liver function 1; ALFN1|RPL21P1|activator of liver function type 1|ALFN1|activator of liver function 1|Half1|ribosomal Protein L21 pseudogene 1|ribosomal PROTEIN L21 pseudogene 1; RPL21P1	http://purl.obolibrary.org/obo/MONDO_0011319		http://identifiers.org/omim/603416
HP:0000768	Pectus carinatum	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:205101001|MSH:D066166|UMLS:C0158731	hposlim_core	Pigeon chest	http://purl.obolibrary.org/obo/HP_0000768	A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.	
MONDO:0013979	primary ciliary dyskinesia 19	biolink:Disease	mondo	DOID:0110608|ICD10:Q34.8|OMIM:614935|UMLS:C3543826		ciliary dyskinesia, primary, type 19|primary ciliary dyskinesia type 19|primary ciliary dyskinesia caused by mutation in LRRC6|CILD19|ciliary dyskinesia, primary, 19; CILD19|ciliary dyskinesia, primary, 19|primary ciliary dyskinesia 19 with or without situs inversus|ciliary dyskinesia, primary, 19, with or without situs inversus|LRRC6 primary ciliary dyskinesia	http://purl.obolibrary.org/obo/MONDO_0013979	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the LRRC6 gene.	DOID:0110608|http://identifiers.org/omim/614935|UMLS:C3543826
MONDO:0011318	Tonoki syndrome	biolink:Disease	mondo	UMLS:C1863918|OMIM:603396|GARD:0010219|MESH:C536967	gard_rare	short stature, brachydactyly, nail dysplasia and mental retardation|Tonoki syndrome|short stature, brachydactyly, nail dysplasia and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0011318		MESH:C536967|http://identifiers.org/omim/603396|UMLS:C1863918
CHEBI:30938	6-aminopenicillanate	biolink:ChemicalSubstance	mondo			(2S,5R,6R)-6-amino-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylate	http://purl.obolibrary.org/obo/CHEBI_30938		
GO:1904169		biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1904169		
GO:1904168		biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1904168		
MONDO:0013983	ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	biolink:Disease	mondo	UMLS:C3539920|OMIM:614941|DOID:0111654		ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive; ECTD11B|ectodermal dysplasia, hypohidrotic|ectodermal dysplasia, anhidrotic|ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive|ECTD11B	http://purl.obolibrary.org/obo/MONDO_0013983		http://identifiers.org/omim/614941|DOID:0111654|UMLS:C3539920
MONDO:0011320	radioulnar synostosis-microcephaly-scoliosis syndrome	biolink:Disease	mondo	OMIM:603438|Orphanet:3268|GARD:0000394|UMLS:C1863881	ordo_malformation_syndrome	radioulnar synostosis with microcephaly, short stature, scoliosis, and intellectual disability|radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation|Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and intellectual disability|GiuffrC)-Tsukahara syndrome|Giuffré-Tsukahara syndrome|Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation|Tsukahara syndrome|Giuffre-Tsukahara syndrome	http://purl.obolibrary.org/obo/MONDO_0011320	Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as GuiffrC)-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit.	ORPHA:3268|UMLS:C1863881|http://identifiers.org/omim/603438
MONDO:0013984	autosomal recessive nonsyndromic deafness 84B	biolink:Disease	mondo	DOID:0110530|ICD10:H90.3|OMIM:614944|UMLS:C3554159		autosomal recessive deafness 84B|OTOGL autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 84B|DFNB84B|autosomal recessive nonsyndromic deafness caused by mutation in OTOGL|deafness, autosomal recessive type 84B|autosomal recessive nonsyndromic deafness type 84B|deafness, autosomal recessive 84B; DFNB84B	http://purl.obolibrary.org/obo/MONDO_0013984	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOGL gene.	http://identifiers.org/omim/614944|UMLS:C3554159|DOID:0110530
MONDO:0011322	Oroacral syndrome, Verloes-Koulischer type	biolink:Disease	mondo	UMLS:C1863879|OMIM:603446|MESH:C566374		Oroacral syndrome, Verloes-Koulischer type	http://purl.obolibrary.org/obo/MONDO_0011322		http://identifiers.org/omim/603446|UMLS:C1863879|MESH:C566374
MONDO:0013981	familial cortical myoclonus	biolink:Disease	mondo	ICD10:G25.3|OMIMPS:614937|SCTID:763770005|Orphanet:319189|UMLS:C3539916	ordo_disease	myoclonus, familial cortical; FCM|myoclonus, familial cortical|FCM|familial myoclonus	http://purl.obolibrary.org/obo/MONDO_0013981	Familial cortical myoclonus is a rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most of cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent.	UMLS:C3539916|SNOMEDCT:763770005|ORPHA:319189
MONDO:0013982	ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant	biolink:Disease	mondo	UMLS:C3541517|OMIM:614940|DOID:0111653		ectodermal dysplasia, hypohidrotic, autosomal dominant|ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant|ECTD11A|ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant; ECTD11A	http://purl.obolibrary.org/obo/MONDO_0013982		http://identifiers.org/omim/614940|DOID:0111653|UMLS:C3541517
MONDO:0011321	expansile bone lesions	biolink:Disease	mondo	OMIM:603439|UMLS:C1863880|MESH:C566375		expansile bone lesions	http://purl.obolibrary.org/obo/MONDO_0011321		UMLS:C1863880|MESH:C566375|http://identifiers.org/omim/603439
HP:0000763	Sensory neuropathy	biolink:PhenotypicFeature	mondo	UMLS:C0151313|SNOMEDCT_US:95662005		Damage to nerves that sense feeling|Peripheral sensory neuropathy	http://purl.obolibrary.org/obo/HP_0000763	Peripheral neuropathy affecting the sensory nerves.	
MONDO:0013987	combined oxidative phosphorylation defect type 15	biolink:Disease	mondo	SCTID:763203009|ICD10:G31.8|DOID:0111491|Orphanet:319524|UMLS:C3554182|OMIM:614947	ordo_disease	combined oxidative phosphorylation deficiency 15|COXPD15|combined oxidative phosphorylation deficiency caused by mutation in MTFMT|combined oxidative phosphorylation deficiency 15; COXPD15|combined oxidative phosphorylation deficiency type 15|MTFMT combined oxidative phosphorylation deficiency	http://purl.obolibrary.org/obo/MONDO_0013987	Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.	ORPHA:319524|http://identifiers.org/omim/614947|SNOMEDCT:763203009|DOID:0111491|UMLS:C3554182
MONDO:0011324	obsolete hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0011324		
MONDO:0011323	arhinia, choanal atresia, and microphthalmia	biolink:Disease	mondo	MESH:C537429|OMIM:603457|SCTID:720511000		arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism|BOSMA arhinia microphthalmia syndrome; BAMS|arhinia, choanal atresia, and microphthalmia|BAMS|Bosma arhinia microphthalmia syndrome	http://purl.obolibrary.org/obo/MONDO_0011323		http://identifiers.org/omim/603457|MESH:C537429|SNOMEDCT:720511000
MONDO:0013988	CHTD3	biolink:Disease	mondo	UMLS:C3554194|OMIM:614954		congenital heart defects, multiple types, 3; CHTD3|congenital heart defects, multiple types, with Cardiac rhythm and conduction disturbances|congenital heart defects, multiple types, 3|CHTD3	http://purl.obolibrary.org/obo/MONDO_0013988		http://identifiers.org/omim/614954|UMLS:C3554194
MONDO:0013985	autosomal recessive nonsyndromic deafness 18B	biolink:Disease	mondo	ICD10:H90.3|DOID:0110474|UMLS:C3554163|OMIM:614945		deafness, autosomal recessive 18B|DFNB18B|deafness, autosomal recessive type 18B|OTOG autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 18B|autosomal recessive deafness 18B|deafness, autosomal recessive 18B; DFNB18B|autosomal recessive nonsyndromic deafness caused by mutation in OTOG	http://purl.obolibrary.org/obo/MONDO_0013985	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOG gene.	http://identifiers.org/omim/614945|UMLS:C3554163|DOID:0110474
MONDO:0011326	citrullinemia, type II, adult-onset	biolink:Disease	mondo	GARD:0010215|OMIM:603471|DOID:0070342	gard_rare	citrullinemia type 2|adult-onset citrullinemia type 2|citrullinemia, type II, ADULT-onset; CTLN2|citrin deficiency|adult-onset citrullinemia type II|citrullinemia type II|citrullinemia, type II, adult-onset|CTLN2	http://purl.obolibrary.org/obo/MONDO_0011326	Adult-onset citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening. The signs and symptoms appear during adulthood and are triggered by certain medications, infections, surgery, and alcohol intake.The features of adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). In many cases, the signs and symptoms of NICCD resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult-onset type II citrullinemia.adult-onset citrullinemia type II is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern.	http://identifiers.org/omim/603471|DOID:0070342
HP:0000765	Abnormal thorax morphology	biolink:PhenotypicFeature	mondo	UMLS:C4021797		Abnormality of the thorax|Abnormality of the chest|Structural abnormality of the chest wall	http://purl.obolibrary.org/obo/HP_0000765	Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).	
GO:1904172	positive regulation of bleb assembly	biolink:OntologyClass	mondo			upregulation of cell blebbing|up regulation of bleb assembly|activation of bleb assembly|upregulation of bleb assembly|up-regulation of cell blebbing|up regulation of cell blebbing|positive regulation of cell blebbing|activation of cell blebbing|up-regulation of bleb assembly	http://purl.obolibrary.org/obo/GO_1904172	Any process that activates or increases the frequency, rate or extent of bleb assembly.	
MONDO:0011325	Fanconi anemia complementation group f	biolink:Disease	mondo	OMIM:603467|EFO:0009045|DOID:0111088|NCIT:C125707		Fanconi Anemia, complementation group type F|FANCF|Fanconi anemia, complementation group F|Fanconi anemia, complementation group F; FANCF|Fanconi anemia complementation group type F	http://purl.obolibrary.org/obo/MONDO_0011325	Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM.	http://identifiers.org/omim/603467|NCIT:C125707|DOID:0111088
MONDO:0013986	combined oxidative phosphorylation defect type 14	biolink:Disease	mondo	DOID:0111477|UMLS:C3554168|Orphanet:319519|ICD10:E88.8|OMIM:614946	ordo_disease	combined oxidative phosphorylation deficiency 14|combined oxidative phosphorylation deficiency caused by mutation in FARS2|combined oxidative phosphorylation deficiency 14; COXPD14|combined oxidative phosphorylation deficiency type 14|COXPD14|FARS2 combined oxidative phosphorylation deficiency	http://purl.obolibrary.org/obo/MONDO_0013986	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the FARS2 gene.	ORPHA:319519|http://identifiers.org/omim/614946|UMLS:C3554168|DOID:0111477
GO:1904171	negative regulation of bleb assembly	biolink:OntologyClass	mondo			down-regulation of cell blebbing|negative regulation of cell blebbing|down regulation of cell blebbing|down-regulation of bleb assembly|downregulation of cell blebbing|inhibition of cell blebbing|down regulation of bleb assembly|downregulation of bleb assembly|inhibition of bleb assembly	http://purl.obolibrary.org/obo/GO_1904171	Any process that stops, prevents or reduces the frequency, rate or extent of bleb assembly.	
GO:1904170	regulation of bleb assembly	biolink:OntologyClass	mondo			regulation of cell blebbing	http://purl.obolibrary.org/obo/GO_1904170	Any process that modulates the frequency, rate or extent of bleb assembly.	
HP:0012735	Cough	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:49727002|UMLS:C0010200|SNOMEDCT_US:263731006|SNOMEDCT_US:272039006|MSH:D003371		Cough|Coughing	http://purl.obolibrary.org/obo/HP_0012735	A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.	
WIKIDATA:Q2306597	Suni	biolink:OntologyClass	mondo			Jalca	https://www.wikidata.org/wiki/Q2306597	"Suni, or Jalca, is one of the eight Natural Regions of Peru. It is located in the Andes at an altitude between 3,500 and 4,000 metres above sea level. Suni has a dry and cold weather and there are many glacial valleys. The flora includes gramineous plants and shrubs such as the taya-taya (Caesalpinia spinosa), the quishuar (Buddleja coriacea), and the cantuta (Cantua buxifolia) which was considered sacred by the Incas. Even though it is hard for plants to grow because of the weather, people are able to cultivate such crops as quinoa, qañiwa, broad beans and ulluku (Ullucus tuberosus). The main fauna is the guinea pig and, among numerous other highland birds, the Chiguanco thrush."	
MONDO:0013980	PPKP1B	biolink:Disease	mondo	OMIM:614936|UMLS:C3554145		palmoplantar keratoderma, punctate type IB; PPKP1B|palmoplantar keratoderma, punctate type IB|PPKP1B	http://purl.obolibrary.org/obo/MONDO_0013980		http://identifiers.org/omim/614936|UMLS:C3554145
MONDO:0001983	peripheral degeneration of cornea	biolink:Disease	mondo	UMLS:C0155123|ICD9:371.48|SCTID:89182000|DOID:14507|ICD10:H18.46		peripheral degenerations of cornea	http://purl.obolibrary.org/obo/MONDO_0001983		SNOMEDCT:89182000|DOID:14507|UMLS:C0155123
MONDO:0001982	Niemann-Pick disease	biolink:Disease	mondo	EFO:1001380|ICD10:E75.242|GARD:0013334|ICD10:E75.24|NCIT:C61269|MESH:D009542|UMLS:C0028064|DOID:14504|ICD10:E75.249|SCTID:58459009	gard_rare	type A Niemann-Pick disease|lipoid histiocytosis (classical phosphatide)|sphingomyelinase deficiency disease|Niemann-Pick disease with cholesterol esterification block|sphingomyelin/cholesterol lipidosis|sphingomyelin lipidosis|lipoid histiocytosis|Niemann-Pick disease, subacute juvenile form	http://purl.obolibrary.org/obo/MONDO_0001982	A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell.	UMLS:C0028064|SNOMEDCT:58459009|MESH:D009542|DOID:14504|NCIT:C61269
MONDO:0001981	obsolete cholesterol ester storage disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001981		
MONDO:0001980	obsolete Wolman disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001980		
MONDO:0001987	senile degeneration of brain	biolink:Disease	mondo	UMLS:C0154669|DOID:14524|SCTID:45864009|ICD9:331.2|COHD:373179		Senile brain degen.	http://purl.obolibrary.org/obo/MONDO_0001987		UMLS:C0154669|SNOMEDCT:45864009|DOID:14524
MONDO:0001986	Argyll Robertson pupil	biolink:Disease	mondo	SCTID:21011008|DOID:14523|UMLS:C0155375|ICD10:H57.01|ICD9:379.45		atypical Argyll-Robertson pupil|Argyll Robertson phenomenon or pupil, nonsyphilitic|Argyll Robertson pupil, atypical	http://purl.obolibrary.org/obo/MONDO_0001986		SNOMEDCT:21011008|DOID:14523|UMLS:C0155375
MONDO:0001985	partial arterial retinal occlusion	biolink:Disease	mondo	UMLS:C0154839|ICD10:H34.21|DOID:14522|ICD10:H34.219|NCIT:C35192|SCTID:776009|ICD9:362.33		partial retinal arterial occlusion|retinal partial arterial occlusion	http://purl.obolibrary.org/obo/MONDO_0001985	A partial occlusion of the retinal artery.	UMLS:C0154839|SNOMEDCT:776009|NCIT:C35192|DOID:14522
MONDO:0025956	ovarian remnant syndrome	biolink:Disease	mondo	GARD:0007297	gard_rare		http://purl.obolibrary.org/obo/MONDO_0025956	Ovarian remnant syndrome (ORS) is characterized by the presence of residual ovarian tissue after a woman has had surgery to remove one ovary or both ovaries (oophorectomy). Signs and symptoms may include pelvic pain, a pelvic mass, or the absence of menopause after oophorectomy. The condition may be caused by surgical factors leading to incomplete removal of ovarian tissue, including factors that limit surgical exposure of the ovary or compromise surgical technique. Factors may include pelvic adhesions (limiting ability to see the ovary or causing it to adhere to other tissues); anatomic variations; bleeding during surgery; or poor surgical technique. Treatment is indicated for people with symptoms and typically involves surgery to remove the residual tissue. Therapy for those who refuse surgery, cannot have surgery, or do not have a pelvic mass may include hormonal therapy to suppress ovarian function.	
MONDO:0001984	candidal paronychia	biolink:Disease	mondo	DOID:14512|ICD9:112.3|COHD:133414|UMLS:C0006842|UMLS:C1282977|ICD10:B37.2|SCTID:187014000		candidiasis of skin and nails|candidiasis of skin	http://purl.obolibrary.org/obo/MONDO_0001984	A candidiasis that results in fungal infection of the outer-most layer located in nail, has material basis in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury.	UMLS:C0006842|SNOMEDCT:187014000|DOID:14512|UMLS:C1282977
MONDO:0013969	combined oxidative phosphorylation defect type 11	biolink:Disease	mondo	OMIM:614922|Orphanet:324535|UMLS:C3554067|ICD10:G31.8|DOID:0111481	ordo_disease	combined oxidative phosphorylation deficiency type 11|COXPD11|combined oxidative phosphorylation deficiency 11; COXPD11|combined oxidative phosphorylation deficiency 11|RMND1 combined oxidative phosphorylation deficiency|Encephaloneuromyopathy, infantile, due to mitochondrial translation defect|combined oxidative phosphorylation deficiency caused by mutation in RMND1	http://purl.obolibrary.org/obo/MONDO_0013969	Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the RMND1 gene.	ORPHA:324535|http://identifiers.org/omim/614922|UMLS:C3554067|DOID:0111481
MONDO:0011306	muscular dystrophy, congenital, with cerebellar atrophy	biolink:Disease	mondo	OMIM:603323|UMLS:C1864028|MESH:C566392		muscular dystrophy, congenital, with cerebellar atrophy	http://purl.obolibrary.org/obo/MONDO_0011306		UMLS:C1864028|http://identifiers.org/omim/603323|MESH:C566392
MONDO:0011305	cerebral cavernous malformation 3	biolink:Disease	mondo	DOID:0060671|ICD10:Q28.3|MESH:C566393|OMIM:603285|UMLS:C1864040		PDCD10 familial cerebral cavernous malformation|cerebral cavernous malformation type 3|cerebral cavernous malformations 3; CCM3|familial cerebral cavernous malformation caused by mutation in PDCD10|cerebral cavernous malformations type 3|CCM3|cerebral cavernous malformations 3	http://purl.obolibrary.org/obo/MONDO_0011305	Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the PDCD10 gene.	DOID:0060671|http://identifiers.org/omim/603285|UMLS:C1864040|MESH:C566393
MONDO:0011308	gracile syndrome	biolink:Disease	mondo	GARD:0000001|SCTID:703388005|UMLS:C1864002|ICD9:759.89|DOID:0111455|Orphanet:53693|ICD10:E88.8|MESH:C537934|OMIM:603358	ordo_disease|gard_rare	Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death|Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome|Growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis and early death|Fellman syndrome|Fellman disease|Finnish lethal neonatal metabolic syndrome|gracile syndrome|lactic acidosis, Finnish, with hepatic hemosiderosis|Growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome|FLNMS|Finnish lactic acidosis with hepatic hemosiderosis	http://purl.obolibrary.org/obo/MONDO_0011308	GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).	DOID:0111455|MESH:C537934|UMLS:C1864002|ORPHA:53693|http://identifiers.org/omim/603358|SNOMEDCT:703388005
MONDO:0013967	peroxisome biogenesis disorder 14B	biolink:Disease	mondo	UMLS:C3554055|OMIM:614920		peroxisome biogenesis disorder 14B|PEX11B peroxisome biogenesis disorder|PEX14B|peroxisome biogenesis disorder type 14B|peroxisome biogenesis disorder caused by mutation in PEX11B|peroxisome biogenesis disorder 14B; PEX14B	http://purl.obolibrary.org/obo/MONDO_0013967	Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX11B gene.	http://identifiers.org/omim/614920|UMLS:C3554055
MONDO:0013968	PGM1-CDG	biolink:Disease	mondo	GARD:0004329|DOID:0080570|MESH:C567859|ICD10:E77.8|OMIM:614921|Orphanet:319646|UMLS:C2752015	ordo_disease	congenital disorder of glycosylation type It|CDG it|GSDXIV|type 14 glycogenosis|congenital disorder of glycosylation, type It; CDG1T|glycogen storage disease due to phosphoglucomutase deficiency|GSD type 14|phosphoglucomutase 1 deficiency|congenital disorder of glycosylation type 1t|CDG-It|Pgm1 deficiency|congenital disorder of glycosylation, type It|glycogen storage disease 14|GSD 14|CDG1T|phosphoglucomutase deficiency type 1|phosphoglucomutase-1 deficiency|CDG syndrome type It	http://purl.obolibrary.org/obo/MONDO_0013968		ORPHA:319646|http://identifiers.org/omim/614921|MESH:C567859|DOID:0080570|UMLS:C2752015
MONDO:0011307	SCZD2	biolink:Disease	mondo	OMIM:603342|DOID:0070078|UMLS:C1864010		schizophrenia 2|schizophrenia susceptibility locus, chromosome 11Q-related|SCZD2|schizophrenia 2; SCZD2	http://purl.obolibrary.org/obo/MONDO_0011307	A schizophrenia that has material basis in an autosomal dominant mutation of SCZD2 on chromosome 11q14-q21.	UMLS:C1864010|http://identifiers.org/omim/603342|DOID:0070078
MONDO:0011309	familial gestational hyperthyroidism	biolink:Disease	mondo	ICD10:E05.8|MESH:C566384|SCTID:703309000|ICD9:242.80|OMIM:603373|Orphanet:99819|ICD9:648.10|UMLS:C1863959	ordo_disease	hyperthyroidism, familial gestational	http://purl.obolibrary.org/obo/MONDO_0011309		http://identifiers.org/omim/603373|UMLS:C1863959|MESH:C566384|ORPHA:99819|SNOMEDCT:703309000
HP:0000737	Irritability	biolink:PhenotypicFeature	mondo	UMLS:C2700617		Irritable|Irritability	http://purl.obolibrary.org/obo/HP_0000737		
HP:0000739	Anxiety	biolink:PhenotypicFeature	mondo	UMLS:C4020884|MSH:D001007|SNOMEDCT_US:48694002|UMLS:C0003467		Anxiety disease|Anxiousness|Excessive, persistent worry and fear|Anxiety	http://purl.obolibrary.org/obo/HP_0000739	Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control.	
MONDO:0013972	Perrault syndrome 2	biolink:Disease	mondo	UMLS:C3554105|OMIM:614926		PRLTS2|Perrault syndrome type 2|HARS2 Perrault syndrome|Perrault syndrome 2|Perrault syndrome 2; PRLTS2|Perrault syndrome caused by mutation in HARS2	http://purl.obolibrary.org/obo/MONDO_0013972	Any Perrault syndrome in which the cause of the disease is a mutation in the HARS2 gene.	http://identifiers.org/omim/614926|UMLS:C3554105
MONDO:0013973	ECTD5	biolink:Disease	mondo	UMLS:C3554108|OMIM:614927|DOID:0111657		ectodermal dysplasia 5, hair/nail type|ectodermal dysplasia 5, hair/nail type; ECTD5|ECTD5	http://purl.obolibrary.org/obo/MONDO_0013973		http://identifiers.org/omim/614927|DOID:0111657|UMLS:C3554108
MONDO:0013970	branched-chain keto acid dehydrogenase kinase deficiency	biolink:Disease	mondo	ICD10:E71.1|UMLS:C3554078|DOID:0090126|OMIM:614923|Orphanet:308410	ordo_disease	branched-chain keto acid dehydrogenase kinase deficiency|autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency|BCKDKD|branched-chain KETO acid dehydrogenase KINASE deficiency; BCKDKD|BCKDK deficiency|Bckdk deficiency	http://purl.obolibrary.org/obo/MONDO_0013970	Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency is a rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.	http://identifiers.org/omim/614923|UMLS:C3554078|DOID:0090126|ORPHA:308410
MONDO:0011311	glaucoma 1, open angle, f	biolink:Disease	mondo	MESH:C566383|OMIM:603383		glaucoma 1, open angle, type F|glaucoma 1, open angle, F; GLC1F|glaucoma 1, open angle, f|glaucoma, primary open angle, adult-onset|GLC1F	http://purl.obolibrary.org/obo/MONDO_0011311		http://identifiers.org/omim/603383|MESH:C566383
MONDO:0013971	leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	biolink:Disease	mondo	Orphanet:314051|UMLS:C3554079|DOID:0111493|GARD:0013381|SCTID:763366000|OMIM:614924	ordo_disease	combined oxidative phosphorylation deficiency 12|combined oxidative phosphorylation deficiency 12; COXPD12|combined oxidative phosphorylation deficiency caused by mutation in EARS2|LTBL|leukoencephalopathy with thalamus and brainstem involvement and high lactate|combined oxidative phosphorylation defect type 12|COXPD12|combined oxidative phosphorylation deficiency type 12|EARS2 combined oxidative phosphorylation deficiency	http://purl.obolibrary.org/obo/MONDO_0013971	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.	http://identifiers.org/omim/614924|SNOMEDCT:763366000|ORPHA:314051|UMLS:C3554079|DOID:0111493
MONDO:0011310	long chain fatty acids, defect in transport of	biolink:Disease	mondo	OMIM:603376		long chain fatty acids, defect in TRANSPORT OF	http://purl.obolibrary.org/obo/MONDO_0011310		http://identifiers.org/omim/603376
MONDO:0011313	megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	biolink:Disease	mondo	OMIM:603387|MESH:C566381		Meg-PMG-Megacc syndrome|MPPH1|megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in PIK3R2|megalencephaly, mega corpus callosum, and complete lack of motor development|megalencephaly, polymicrogyria, mega corpus callosum syndrome|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 1|PIK3R2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1; MPPH1|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	http://purl.obolibrary.org/obo/MONDO_0011313	Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the PIK3R2 gene.	http://identifiers.org/omim/603387|MESH:C566381
MONDO:0013976	ectodermal dysplasia 9, hair/nail type	biolink:Disease	mondo	OMIM:614931|UMLS:C3554127|DOID:0111656		ectodermal dysplasia 9, hair/nail type; ECTD9|ECTD9|HOXC13 pure hair and nail ectodermal dysplasia|ectodermal dysplasia 9, hair/nail type|pure hair and nail ectodermal dysplasia caused by mutation in HOXC13	http://purl.obolibrary.org/obo/MONDO_0013976	Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the HOXC13 gene.	http://identifiers.org/omim/614931|UMLS:C3554127|DOID:0111656
UBERON:0007197	hermaphroditic organism	biolink:AnatomicalEntity	mondo			hermaphrodite|dioecious organism	http://purl.obolibrary.org/obo/UBERON_0007197	multicellular organism that can produce both male and female gametes.	
MONDO:0013977	combined oxidative phosphorylation defect type 13	biolink:Disease	mondo	SCTID:763110007|DOID:0111467|OMIM:614932|Orphanet:319514|UMLS:C3554129|ICD10:G71.3	ordo_disease	combined oxidative phosphorylation deficiency 13|COXPD13|combined oxidative phosphorylation deficiency 13; COXPD13|PNPT1 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in PNPT1|combined oxidative phosphorylation deficiency type 13	http://purl.obolibrary.org/obo/MONDO_0013977	Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive.	ORPHA:319514|http://identifiers.org/omim/614932|DOID:0111467|UMLS:C3554129|SNOMEDCT:763110007
MONDO:0011312	thyroid carcinoma, nonmedullary, with or without cell oxyphilia	biolink:Disease	mondo	OMIM:603386|GARD:0008488|UMLS:C1863925|MESH:C537842	gard_rare	thyroid carcinoma, nonmedullary, with or without cell oxyphilia|TCO1|TCO|nonmedullary thyroid carcinoma, with or without cell oxyphilia|TCO 1	http://purl.obolibrary.org/obo/MONDO_0011312		http://identifiers.org/omim/603386|UMLS:C1863925|MESH:C537842
UBERON:0007196	tracheobronchial tree	biolink:AnatomicalEntity	mondo			tracheobronchial system|arbor tracheobronchialis	http://purl.obolibrary.org/obo/UBERON_0007196	The structure from the trachea, bronchi, and bronchioles that forms the airways that supply air to the lungs. The lining of the tracheobronchial tree consists of ciliated columnar epithelial cells.	
MONDO:0013974	ECTD6	biolink:Disease	mondo	OMIM:614928|UMLS:C3554111|DOID:0111659		ectodermal dysplasia 6, hair/nail type|ECTD6|ectodermal dysplasia 6, hair/nail type; ECTD6	http://purl.obolibrary.org/obo/MONDO_0013974		http://identifiers.org/omim/614928|UMLS:C3554111|DOID:0111659
MONDO:0011315	Osebold skeletal dysplasia/osteolysis syndrome	biolink:Disease	mondo	MESH:C566380|UMLS:C1863922|OMIM:603389		Osebold skeletal dysplasia/osteolysis syndrome	http://purl.obolibrary.org/obo/MONDO_0011315		http://identifiers.org/omim/603389|UMLS:C1863922|MESH:C566380
MONDO:0011314	Graves disease, susceptibility to, 2	biolink:Disease	mondo	OMIM:603388	predisposition	Graves disease, susceptibility to, 2|Graves disease, susceptibility to, type 2|Grd2	http://purl.obolibrary.org/obo/MONDO_0011314		http://identifiers.org/omim/603388
MONDO:0013975	ectodermal dysplasia 7, hair/nail type	biolink:Disease	mondo	OMIM:614929|DOID:0111660|UMLS:C3554117		ECTD7|KRT74 pure hair and nail ectodermal dysplasia|ectodermal dysplasia 7, hair/nail type|pure hair and nail ectodermal dysplasia caused by mutation in KRT74|ectodermal dysplasia 7, hair/nail type; ECTD7	http://purl.obolibrary.org/obo/MONDO_0013975	Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT74 gene.	http://identifiers.org/omim/614929|DOID:0111660|UMLS:C3554117
UBERON:0007195	stroma of bone marrow	biolink:AnatomicalEntity	mondo			bone marrow stroma	http://purl.obolibrary.org/obo/UBERON_0007195	The stroma of the bone marrow is all tissue not directly involved in the primary function of hematopoiesis. The yellow bone marrow belongs here, and makes the majority of the bone marrow stroma, in addition to stromal cells located in the red bone marrow. Yellow bone marrow is found in the Medullary cavity. Still, the stroma is indirectly involved in hematopoiesis, since it provides the hematopoietic microenvironment that facilitates hematopoiesis by the parenchymal cells. For instance, they generate colony stimulating factors, affecting hematopoiesis.	
MONDO:0001979	dumping syndrome	biolink:Disease	mondo	ICD10:K91.1|NCIT:C2994|EFO:1001307|MESH:D004377|UMLS:C0013288|DOID:14495		dumping (jejunal) syndrome|jejunal syndrome	http://purl.obolibrary.org/obo/MONDO_0001979	A disorder of the gastrointestinal tract. It is typically caused by the rapid emptying of undigested food from the stomach to the small intestine following gastroesophageal surgery but may be seen secondary to diabetes or the use of certain medications. Clinical signs may be seen 30-60 minutes after eating (early dumping): cramping, nausea, vomiting and diarrhea or they may be seen 1-3 hours later as a result of hyperinsulinemic hypoglycemia (late dumping): sweating, dizziness, confusion and heart palpitations. Untreated, the clinical course progresses to malnutrition and weight loss.	MESH:D004377|UMLS:C0013288|NCIT:C2994|DOID:14495
MONDO:0001978	regional ureteric cancer	biolink:Disease	mondo	NCIT:C9356|UMLS:C0854921|DOID:14491		regional malignant ureteral tumor|regional ureter carcinoma|regional ureteric carcinoma	http://purl.obolibrary.org/obo/MONDO_0001978	Carcinoma of the ureter without spread to any other region.	UMLS:C0854921|NCIT:C9356|DOID:14491
MONDO:0001977	ureteral lymphoma	biolink:Disease	mondo	UMLS:C1336876|NCIT:C6175|DOID:14489		lymphoma of the ureter|ureter lymphoma|primary ureter lymphoma|lymphoma of ureter|ureteral lymphoma	http://purl.obolibrary.org/obo/MONDO_0001977	A lymphoma that involves the ureter.	NCIT:C6175|UMLS:C1336876|DOID:14489
MONDO:0001994	sphenoidal sinus cancer	biolink:Disease	mondo	UMLS:C0153479|NCIT:C3543|ICD10:C31.3|ICD9:160.5|DOID:14546|SCTID:363428005		malignant tumor of the sphenoidal sinus|malignant neoplasm of sphenoid sinus|malignant neoplasm of the sphenoid sinus|malignant sphenoid sinus tumor|malignant sphenoid sinus neoplasm|malignant neoplasm of sphenoidal sinus|malignant tumor of sphenoidal sinus|malignant neoplasm of the sphenoidal sinus|malignant sphenoidal sinus tumor|sphenoidal sinus cancer|malignant tumor of sphenoid sinus|malignant tumor of the sphenoid sinus|cancer of sphenoidal sinus|malignant sphenoidal sinus neoplasm	http://purl.obolibrary.org/obo/MONDO_0001994	A malignant neoplasm involving the sphenoidal sinus.	UMLS:C0153479|NCIT:C3543|DOID:14546|SNOMEDCT:363428005
MONDO:0001993	seminal vesicle adenocarcinoma	biolink:Disease	mondo	NCIT:C39906|UMLS:C1519233|DOID:14545		seminal vesicle adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0001993	A carcinoma that arises from glandular epithelial cells of the seminal vesicle	NCIT:C39906|DOID:14545|UMLS:C1519233
MONDO:0001992	rete testis adenocarcinoma	biolink:Disease	mondo	NCIT:C8955|UMLS:C0863024|DOID:14544		adenocarcinoma of the rete testis|rete testis adenocarcinoma|adenocarcinoma of rete testis|carcinoma, rete testis, malignant	http://purl.obolibrary.org/obo/MONDO_0001992	A carcinoma that arises from glandular epithelial cells of the rete testis	DOID:14544|NCIT:C8955|UMLS:C0863024
MONDO:0001991	malignant cardiac germ cell tumor	biolink:Disease	mondo	NCIT:C5371|UMLS:C1334566|DOID:14535		malignant germ cell tumor of heart|malignant Cardiac germ cell neoplasm|malignant Cardiac germ cell tumor|malignant germ cell tumor of the heart|malignant germ cell neoplasm of the heart|malignant germ cell neoplasm of heart|malignant heart germ cell tumor|malignant heart germ cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0001991	A rare malignant germ cell tumor that arises from the pericardium.	UMLS:C1334566|DOID:14535|NCIT:C5371
MONDO:0001998	Foster-Kennedy syndrome	biolink:Disease	mondo	DOID:14555|UMLS:C0152112|ICD9:377.04|EFO:1001330|SCTID:87764000|ICD10:H47.14			http://purl.obolibrary.org/obo/MONDO_0001998	Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect.	UMLS:C0152112|SNOMEDCT:87764000|DOID:14555
MONDO:0001997	root resorption	biolink:Disease	mondo	MESH:D012391|DOID:14550|UMLS:C0035851			http://purl.obolibrary.org/obo/MONDO_0001997	Resorption in which cementum or dentin is lost from the root of a tooth owing to cementoclastic or osteoclastic activity in conditions such as trauma of occlusion or neoplasms. (Dorland, 27th ed)	UMLS:C0035851|MESH:D012391|DOID:14550
MONDO:0001996	steroid-induced glaucoma - borderline	biolink:Disease	mondo	SCTID:302895007|COHD:435809|ICD9:365.03|DOID:14548|UMLS:C0339572		borderline glaucoma steroid responder|steroid responders borderline glaucoma	http://purl.obolibrary.org/obo/MONDO_0001996		SNOMEDCT:302895007|UMLS:C0339572|DOID:14548
MONDO:0001995	sphenoid sinus squamous cell carcinoma	biolink:Disease	mondo	UMLS:C1336039|NCIT:C6066|SCTID:707355002|DOID:14547		epidermoid carcinoma of the sphenoidal sinus|sphenoidal sinus epidermoid carcinoma|squamous cell carcinoma of sphenoidal sinus|squamous cell carcinoma of the sphenoidal sinus|sphenoidal sinus squamous cell carcinoma|epidermoid carcinoma of sphenoid sinus|epidermoid carcinoma of the sphenoid sinus|sphenoid sinus squamous cell carcinoma|sphenoid sinus epidermoid carcinoma|epidermoid carcinoma of sphenoidal sinus|squamous cell carcinoma of sphenoid sinus|squamous cell carcinoma of the sphenoid sinus	http://purl.obolibrary.org/obo/MONDO_0001995	A squamous cell carcinoma that arises from the mucosal epithelial surface of the sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.	DOID:14547|NCIT:C6066|SNOMEDCT:707355002|UMLS:C1336039
HP:0000745	Diminished motivation	biolink:PhenotypicFeature	mondo	UMLS:C0456814|SNOMEDCT_US:277521002		Lack of motivation|Lacking in initiative|Diminished motivation|Lacks initiative|Lack of initiative	http://purl.obolibrary.org/obo/HP_0000745	A reduction in goal-directed behavior, that is, motivation, the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action.	
MONDO:0013958	obsolete monocyte and dendritic cell deficiency, autosomal recessive	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0013958		
UBERON:0007182	muscle layer of infundibulum of uterine tube	biolink:AnatomicalEntity	mondo			muscularis of infundibulum of uterine tube|muscle layer of infundibulum of oviduct|muscle layer of infundibulum of fallopian tube	http://purl.obolibrary.org/obo/UBERON_0007182	A muscle layer that is part of a uterine tube infundibulum.	
MONDO:0013959	Charcot-Marie-Tooth disease type 4F	biolink:Disease	mondo	UMLS:C3540453|ICD10:G60.0|GARD:0012441|Orphanet:99952|OMIM:614895|SCTID:715801001|DOID:0110193	ordo_disease|gard_rare	Charcot-Marie-Tooth disease, demyelinating, type 4F|Charcot-Marie-Tooth disease, demyelinating, type 4F; CMT4F|Charcot-Marie-Tooth disease type 4 caused by mutation in Prx|Charcot-Marie-Tooth disease type 4 caused by mutation in PRX|CMT4F|PRX Charcot-Marie-Tooth disease type 4|Prx Charcot-Marie-Tooth disease type 4	http://purl.obolibrary.org/obo/MONDO_0013959	Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones.	DOID:0110193|SNOMEDCT:715801001|UMLS:C3540453|http://identifiers.org/omim/614895|ORPHA:99952
MONDO:0013956	mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	biolink:Disease	mondo	ICD10:D84.8|Orphanet:319595|UMLS:C4013950|OMIM:614892	predisposition|ordo_disease	immunodeficiency 31A; IMD31A|MSMD due to partial signal transducer and activator of transcription 1 deficiency|MSMD due to partial STAT1 deficiency|immunodeficiency 31A, Mycobacteriosis, autosomal dominant|autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in STAT1|IMD31A|Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency|STAT1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency|immunodeficiency 31A|Stat1 deficiency, autosomal dominant|immunodeficiency type 31A	http://purl.obolibrary.org/obo/MONDO_0013956	Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections.	UMLS:C4013950|ORPHA:319595|http://identifiers.org/omim/614892
UBERON:0007181	serosa of infundibulum of uterine tube	biolink:AnatomicalEntity	mondo			serosa of infundibulum of fallopian tube|serosa of infundibulum of oviduct	http://purl.obolibrary.org/obo/UBERON_0007181	A serous membrane that is part of a uterine tube infundibulum.	
MONDO:0013957	mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency	biolink:Disease	mondo	Orphanet:319600|UMLS:C3808589|ICD10:D84.8|OMIM:614893	ordo_disease|predisposition	autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IRF8|immunodeficiency 32A|MSMD due to partial IRF8 deficiency|immunodeficiency type 32A|immunodeficiency 32A; IMD32A|Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency|immunodeficiency 32A, Mycobacteriosis, autosomal dominant|IMD32A|MSMD due to partial interferon regulatory factor 8 deficiency|CD11c-positive/CD1c-positive Dendritic cell deficiency, autosomal dominant|IRF8 deficiency, autosomal dominant|IRF8 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency	http://purl.obolibrary.org/obo/MONDO_0013957	Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-GuC)rin (BCG)..	UMLS:C3808589|ORPHA:319600|http://identifiers.org/omim/614893
MONDO:0001990	malignant cardiac peripheral nerve sheath neoplasm	biolink:Disease	mondo	UMLS:C1334569|NCIT:C5367|DOID:14534		malignant schwannoma of the heart|malignant heart schwannoma|malignant Cardiac neurilemmoma|malignant schwannoma of heart|MPNST of heart|Cardiac malignant peripheral nerve sheath tumor|malignant neurilemmoma of the heart|malignant Cardiac peripheral nerve sheath tumor|Cardiac MPNST|malignant neurilemmoma of heart|malignant Cardiac schwannoma|CARDIAC schwannoma, malignant|malignant peripheral nerve sheath neoplasm of the heart|malignant peripheral nerve sheath neoplasm of heart|malignant heart peripheral nerve sheath tumor|heart malignant peripheral nerve sheath tumor|malignant heart peripheral nerve sheath neoplasm|heart MPNST|MPNST of the heart|malignant peripheral nerve sheath tumor of the heart|malignant peripheral nerve sheath tumor of heart|malignant heart neurilemmoma|malignant Cardiac peripheral nerve sheath neoplasm	http://purl.obolibrary.org/obo/MONDO_0001990	A very rare malignant peripheral nerve sheath tumor that arises from the heart.	UMLS:C1334569|DOID:14534|NCIT:C5367
MONDO:0013961	hypogonadotropic hypogonadism 16 with or without anosmia	biolink:Disease	mondo	DOID:0090080|UMLS:C3554021|ICD10:E23.0|OMIM:614897		hypogonadotropic hypogonadism 16 with or without anosmia|hypogonadotropic hypogonadism 16 with or without anosmia; HH16|hypogonadotropic hypogonadism caused by mutation in SEMA3A|SEMA3A hypogonadotropic hypogonadism|HH16	http://purl.obolibrary.org/obo/MONDO_0013961	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SEMA3A gene.	http://identifiers.org/omim/614897|UMLS:C3554021|DOID:0090080
HGNC:10586	SCN1B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10586		
MONDO:0013962	hereditary spastic paraplegia 53	biolink:Disease	mondo	Orphanet:319199|ICD10:G11.4|DOID:0110805|SCTID:723823004|UMLS:C3539494|OMIM:614898|UMLS:C4510082	ordo_disease	spastic paraplegia 53, autosomal recessive|spastic paraplegia 53, autosomal recessive; SPG53|autosomal recessive complex spastic paraplegia caused by mutation in VPS37A|autosomal recessive spastic paraplegia type 53|SPG53|autosomal recessive spastic paraplegia 53|VPS37A autosomal recessive complex spastic paraplegia|hereditary spastic paraplegia type 53	http://purl.obolibrary.org/obo/MONDO_0013962	A very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.	UMLS:C4510082|ORPHA:319199|http://identifiers.org/omim/614898|SNOMEDCT:723823004|UMLS:C3539494|DOID:0110805
MONDO:0011300	MYP3	biolink:Disease	mondo	MESH:C566397|UMLS:C1864111|OMIM:603221		myopia 3, autosomal dominant|MYP3|myopia 3, autosomal dominant; MYP3	http://purl.obolibrary.org/obo/MONDO_0011300		http://identifiers.org/omim/603221|UMLS:C1864111|MESH:C566397
MONDO:0013960	sinoatrial node dysfunction and deafness	biolink:Disease	mondo	Orphanet:324321|OMIM:614896|UMLS:C3554018	ordo_disease	sinoatrial node dysfunction and deafness; SANDD|SANDD|sinoatrial node dysfunction and deafness	http://purl.obolibrary.org/obo/MONDO_0013960	Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress.	ORPHA:324321|http://identifiers.org/omim/614896|UMLS:C3554018
UBERON:0007188	mesothelium of serous pericardium	biolink:AnatomicalEntity	mondo			pericardial mesothelium|mesothelium of pericardium|serous pericardium mesothelium	http://purl.obolibrary.org/obo/UBERON_0007188	A mesothelium that is part of a serous pericardium.	
HGNC:10585	SCN1A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10585		
MONDO:0013965	lethal congenital contracture syndrome 4	biolink:Disease	mondo	OMIM:614915|UMLS:C3554046|GARD:0012645|DOID:0060654	gard_rare	LCCS4|lethal congenital contracture syndrome 4; LCCS4|MYBPC1 lethal congenital contracture syndrome|lethal congenital contracture syndrome 4|lethal congenital contracture syndrome caused by mutation in MYBPC1|lethal congenital contracture syndrome type 4	http://purl.obolibrary.org/obo/MONDO_0013965	Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the MYBPC1 gene.	DOID:0060654|http://identifiers.org/omim/614915|UMLS:C3554046
MONDO:0011302	type 1 diabetes mellitus 17	biolink:Disease	mondo	OMIM:603266|DOID:0110754|MESH:C566395|UMLS:C1864068|ICD10:E10		diabetes mellitus, insulin-dependent, 17|IDDM17|insulin-dependent diabetes mellitus 17|diabetes mellitus, insulin-dependent, 17; IDDM17	http://purl.obolibrary.org/obo/MONDO_0011302	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q25.	DOID:0110754|UMLS:C1864068|http://identifiers.org/omim/603266|MESH:C566395
HP:0000741	Apathy	biolink:PhenotypicFeature	mondo	UMLS:C0085632|MSH:D057565|SNOMEDCT_US:20602000		Lack of feeling, emotion, interest	http://purl.obolibrary.org/obo/HP_0000741		
MONDO:0011301	pseudohypoparathyroidism type 1B	biolink:Disease	mondo	Orphanet:94089|GARD:0010680|UMLS:C2932715|ICD10:E20.1|MESH:C548075|OMIM:603233|DOID:0080222	ordo_disease|gard_rare	pseudohypoparathyroidism, type 1B|PHP1B|pseudohypoparathyroidism type IB|pseudohypoparathyroidism, type IB; PHP1B|Php 1B|pseudohypoparathyroidism, type IB	http://purl.obolibrary.org/obo/MONDO_0011301	Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.	ORPHA:94089|UMLS:C2932715|http://identifiers.org/omim/603233|DOID:0080222|MESH:C548075
MONDO:0013966	catecholaminergic polymorphic ventricular tachycardia 4	biolink:Disease	mondo	ICD10:I47.2|DOID:0060678|UMLS:C3554047|OMIM:614916		ventricular tachycardia, catecholaminergic polymorphic, 4; CPVT4|CPVT4|CALM1 catecholaminergic polymorphic ventricular tachycardia|ventricular tachycardia, catecholaminergic polymorphic, 4|catecholaminergic polymorphic ventricular tachycardia type 4|ventricular tachycardia, catecholaminergic polymorphic, type 4|catecholaminergic polymorphic ventricular tachycardia caused by mutation in CALM1|CVPT4	http://purl.obolibrary.org/obo/MONDO_0013966	Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CALM1 gene.	DOID:0060678|http://identifiers.org/omim/614916|UMLS:C3554047
MONDO:0013963	autosomal recessive nonsyndromic deafness 93	biolink:Disease	mondo	OMIM:614899|ICD10:H90.3|DOID:0110537		deafness, autosomal recessive 93|autosomal recessive deafness 93|autosomal recessive nonsyndromic deafness caused by mutation in CABP2|DFNB93|deafness, autosomal recessive 93; DFNB93|autosomal recessive nonsyndromic deafness type 93|deafness, autosomal recessive type 93|CABP2 autosomal recessive nonsyndromic deafness	http://purl.obolibrary.org/obo/MONDO_0013963	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CABP2 gene.	http://identifiers.org/omim/614899|DOID:0110537
MONDO:0011304	cerebral cavernous malformation 2	biolink:Disease	mondo	ICD10:Q28.3|DOID:0060670|MESH:C566394|UMLS:C1864041|OMIM:603284		CCM2 familial cerebral cavernous malformation|cerebral cavernous malformations 2|cerebral cavernous malformations 2; CCM2|cerebral cavernous malformation type 2|familial cerebral cavernous malformation caused by mutation in CCM2|cerebral cavernous malformations type 2|CCM2	http://purl.obolibrary.org/obo/MONDO_0011304	Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the CCM2 gene.	DOID:0060670|http://identifiers.org/omim/603284|UMLS:C1864041|MESH:C566394
HGNC:10588	SCN2A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10588		
MONDO:0011303	focal segmental glomerulosclerosis 1	biolink:Disease	mondo	MESH:C538457|DOID:0111128|OMIM:603278|ICD10:N04.1|Orphanet:93213	ordo_histopathological_subtype	focal segmental glomerulosclerosis caused by mutation in ACTN4|FSGS1|glomerulosclerosis, focal segmental, 1|focal segmental glomerulosclerosis 1|familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis|focal segmental glomerulosclerosis 1; FSGS1|ACTN4 focal segmental glomerulosclerosis|familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis|focal segmental glomerulosclerosis type 1	http://purl.obolibrary.org/obo/MONDO_0011303	Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene.	http://identifiers.org/omim/603278|ORPHA:93213|MESH:C538457|DOID:0111128
MONDO:0013964	Diamond-Blackfan anemia 11	biolink:Disease	mondo	UMLS:C3554042|OMIM:614900		Diamond-Blackfan anemia caused by mutation in RPL26|Diamond-Blackfan Anemia type 11|Diamond-Blackfan anemia 11|Diamond-Blackfan anemia 11; DBA11|RPL26 Diamond-Blackfan anemia|DBA11	http://purl.obolibrary.org/obo/MONDO_0013964	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL26 gene.	http://identifiers.org/omim/614900|UMLS:C3554042
HGNC:10589	SCN2B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10589		
MONDO:0001989	atrophic glossitis	biolink:Disease	mondo	COHD:439060|UMLS:C0155964|ICD9:529.4|SCTID:9491003|ICD10:K14.4|DOID:1453		Hunter's glossitis|glossitis, Hunter's|smooth atrophic tongue|atrophy of tongue papillae	http://purl.obolibrary.org/obo/MONDO_0001989		UMLS:C0155964|DOID:1453|SNOMEDCT:9491003
MONDO:0001988	external pathological resorption	biolink:Disease	mondo	ICD9:521.42|ICD10:K03.3|DOID:14529|UMLS:C0266878|SCTID:41918006			http://purl.obolibrary.org/obo/MONDO_0001988		UMLS:C0266878|SNOMEDCT:41918006|DOID:14529
HGNC:10582	SCN10A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10582		
HGNC:10583	SCN11A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10583		
HP:0012718	Morphological abnormality of the gastrointestinal tract	biolink:PhenotypicFeature	mondo	UMLS:C4021073		Morphological anomaly of the digestive system|Abnormal shape of the digestive system|Morphological abnormality of the GI tract	http://purl.obolibrary.org/obo/HP_0012718	Abnormal structure of the gastrointestinal tract.	
HP:0012719	Functional abnormality of the gastrointestinal tract	biolink:PhenotypicFeature	mondo	UMLS:C4022755		Functional abnormality of the GI tract|GI dysfunction	http://purl.obolibrary.org/obo/HP_0012719	Abnormal functionality of the gastrointestinal tract.	
HGNC:10548	ATXN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10548		
HGNC:10549	ATXN10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10549		
HP:0012780	Neoplasm of the ear	biolink:PhenotypicFeature	mondo	NCIT:C3262|MSH:D004428|UMLS:C0013449|SNOMEDCT_US:363228008		Ear tumor	http://purl.obolibrary.org/obo/HP_0012780	A tumor (abnormal growth of tissue) of the ear.	
MONDO:0011375	brittle bone disorder	biolink:Disease	mondo	UMLS:C1859069|OMIM:603828|MESH:C565842		brittle bone disorder	http://purl.obolibrary.org/obo/MONDO_0011375		MESH:C565842|UMLS:C1859069|http://identifiers.org/omim/603828
MONDO:0011374	hypercholesterolemia, familial, 4	biolink:Disease	mondo	NCIT:C128114|UMLS:C1863512|OMIM:603813|ICD10:E78.0|MESH:C566331|DOID:0090105		autosomal recessive hypercholesterolemia 2|FHCB1|autosomal recessive hypercholesterolemia 1|hypercholesterolemia, autosomal recessive; ARH|familial autosomal recessive hypercholesterolemia|hypercholesterolemia, autosomal recessive, 2, formerly|hypercholesterolemia, autosomal recessive, 1, formerly|hypercholesterolemia, autosomal recessive|hypercholesterolemia, autosomal recessive, 2|hypercholesterolemia, autosomal recessive, 1|ARH|FHCB2, formerly|FHCB1, formerly|ARH2|ARH1|FHCB2	http://purl.obolibrary.org/obo/MONDO_0011374	An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia.	DOID:0090105|http://identifiers.org/omim/603813|UMLS:C1863512|MESH:C566331|NCIT:C128114
MONDO:0011377	long QT syndrome 3	biolink:Disease	mondo	ICD10:I45.8|OMIM:603830|MESH:C565840|DOID:0110646|NCIT:C137959|UMLS:C1859062|GARD:0003286|UMLS:C2931401	gard_rare	long QT syndrome 3; LQT3|long QT syndrome type 3|SCN5A long QT syndrome|long QT syndrome caused by mutation in SCN5A|long QT syndrome 2/3, digenic|LQT3|long QT syndrome 3, acquired, susceptibility to|long QT syndrome 3/6, digenic|long QT syndrome 3	http://purl.obolibrary.org/obo/MONDO_0011377	An autosomal dominant condition caused by mutation(s) in the SCN5A gene, encoding sodium channel protein type 5 subunit alpha. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.	MESH:C565840|DOID:0110646|UMLS:C2931401|UMLS:C1859062|http://identifiers.org/omim/603830|NCIT:C137959
MONDO:0011376	ventricular fibrillation, paroxysmal familial, type 1	biolink:Disease	mondo	ICD10:I49.0|MESH:C567851|OMIM:603829|UMLS:C2751898|SCTID:233915000	ordo_disease	ventricular fibrillation, paroxysmal familial, type 1|ventricular fibrillation, paroxysmal familial, 1; VF1|IVF|ventricular fibrillation during myocardial infarction, susceptibility to|VF1|ventricular fibrillation, paroxysmal familial, 1	http://purl.obolibrary.org/obo/MONDO_0011376		MESH:C567851|SNOMEDCT:233915000|UMLS:C2751898|http://identifiers.org/omim/603829
MONDO:0011379	medullary cystic kidney disease 2	biolink:Disease	mondo	NCIT:C123172|OMIM:603860|SCTID:445503007|EFO:0008618|UMLS:C4054550		medullary cystic kidney disease 2; MCKD2|medullary cystic kidney disease 2, autosomal dominant|medullary cystic kidney disease type II|medullary cystic kidney disease type 2|MCKD2|medullary cystic kidney disease 2	http://purl.obolibrary.org/obo/MONDO_0011379	An inherited form of cystic kidney disease leading to fibrosis and impaired renal function that is caused by mutations in the UMOD gene, which encodes uromodulin/Tamm-Horsfall mucoprotein.	SNOMEDCT:445503007|UMLS:C4054550|http://identifiers.org/omim/603860|NCIT:C123172
MONDO:0011378	obsolete CFM1	biolink:Disease	mondo	OMIM:603855		cystic fibrosis, modifier of, 1|meconium ileus in cystic fibrosis, susceptibility to|CFM1|cystic fibrosis, modifier of, 1; CFM1	http://purl.obolibrary.org/obo/MONDO_0011378		http://identifiers.org/omim/603855
HGNC:10555	ATXN2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10555		
UBERON_CORE:protects	protects	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/uberon/core#protects		
HP:0009125	Lipodystrophy	biolink:PhenotypicFeature	mondo	MSH:D008060|UMLS:C0023787|SNOMEDCT_US:71325002		Inability to make and keep healthy fat tissue	http://purl.obolibrary.org/obo/HP_0009125	Degenerative changes of the fat tissue.	
MONDO:0011371	hydroa vacciniforme, familial	biolink:Disease	mondo	GARD:0010079|UMLS:C1863533|OMIM:603794|MESH:C536077	gard_rare	familial hydroa vacciniforme|hydroa vacciniforme, familial|hereditary hydroa vacciniforme	http://purl.obolibrary.org/obo/MONDO_0011371	An instance of hydroa vacciniforme that is caused by an inherited modification of the individual's genome.	http://identifiers.org/omim/603794|UMLS:C1863533|MESH:C536077
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	biolink:PhenotypicFeature	mondo	UMLS:C4024585			http://purl.obolibrary.org/obo/HP_0009122	Absence (due to failure to form) or underdevelopment of bones of the axial skeleton.	
MONDO:0011370	Stargardt disease 4	biolink:Disease	mondo	OMIM:603786|MESH:C535521|UMLS:C1863534		Stargardt disease 4|Stargardt disease type 4|STGD4|Stargardt disease caused by mutation in PROM1|Stargardt disease 4; STGD4|PROM1 Stargardt disease	http://purl.obolibrary.org/obo/MONDO_0011370	Any Stargardt disease in which the cause of the disease is a mutation in the PROM1 gene.	MESH:C535521|http://identifiers.org/omim/603786|UMLS:C1863534
HP:0009121	Abnormal axial skeleton morphology	biolink:PhenotypicFeature	mondo	UMLS:C4020785|UMLS:C4024586		Abnormality of the axial skeleton	http://purl.obolibrary.org/obo/HP_0009121	An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum.	
HP:0009124	Abnormal adipose tissue morphology	biolink:PhenotypicFeature	mondo	UMLS:C4021524		Abnormality of fat tissue|Abnormality of adipose tissue|Abnormality of fatty tissue	http://purl.obolibrary.org/obo/HP_0009124	An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes.	
HP:0000790	Hematuria	biolink:PhenotypicFeature	mondo	UMLS:C0018965|SNOMEDCT_US:53298000|SNOMEDCT_US:34436003|MSH:D006417		Blood in urine|High urine occult blood	http://purl.obolibrary.org/obo/HP_0000790	The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).	
MONDO:0011373	urinary tract infections, recurrent, susceptibility to	biolink:Disease	mondo	OMIM:603806	predisposition	urinary tract infections, recurrent, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0011373		http://identifiers.org/omim/603806
MONDO:0011372	microcephaly with simplified gyral pattern	biolink:Disease	mondo	MESH:C566332|UMLS:C1863516|OMIM:603802		microcephaly with simplified gyral pattern	http://purl.obolibrary.org/obo/MONDO_0011372		http://identifiers.org/omim/603802|UMLS:C1863516|MESH:C566332
MONDO:0011364	autosomal recessive nonsyndromic deafness 16	biolink:Disease	mondo	ICD10:H90.3|OMIM:603720|UMLS:C1863561|MESH:C566339|DOID:0110471	clingen	autosomal recessive nonsyndromic deafness type 16|autosomal recessive deafness 16|deafness, autosomal recessive 16; DFNB16|autosomal recessive nonsyndromic deafness caused by mutation in STRC|deafness, autosomal recessive type 16|STRC autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 16|DFNB16	http://purl.obolibrary.org/obo/MONDO_0011364	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the STRC gene.	MESH:C566339|DOID:0110471|http://identifiers.org/omim/603720|UMLS:C1863561
MONDO:0011363	diabetes mellitus, noninsulin-dependent, 3	biolink:Disease	mondo	MESH:C566342|UMLS:C1863594|OMIM:603694		diabetes mellitus, noninsulin-dependent, 3|noninsulin-dependent diabetes mellitus 3|diabetes mellitus, noninsulin-dependent, type 3|NIDDM3	http://purl.obolibrary.org/obo/MONDO_0011363		MESH:C566342|http://identifiers.org/omim/603694|UMLS:C1863594
MONDO:0011366	ovarian germ cell tumor	biolink:Disease	mondo	GARD:0009330|ICD9:239.5|DOID:2156|SCTID:237059008|EFO:1000419|UMLS:C0238324|OMIM:603737|NCIT:C3873|ONCOTREE:OGCT		germ cell neoplasm of the ovary|germ cell neoplasm of ovary|ovary germ cell tumor|ovarian germ cell cancer|ovarian germ cell tumor|germ cell tumor of the ovary|ovarian germ cell neoplasm|germ cell tumor of ovary	http://purl.obolibrary.org/obo/MONDO_0011366	A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma.	DOID:2156|SNOMEDCT:237059008|http://identifiers.org/omim/603737|UMLS:C0238324|NCIT:C3873
MONDO:0011365	blepharophimosis - intellectual disability syndrome, SBBYS type	biolink:Disease	mondo	OMIM:603736|MESH:C536717|Orphanet:3047|ICD10:Q87.8|ICD9:759.89|SCTID:699298009|DOID:0060290	ordo_malformation_syndrome	SBBYSS|hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome|Young-Simpson syndrome|Ohdo syndrome, SBBYS variant; SBBYSS|Ohdo syndrome, SBBYS variant|Say-Barber-Biesecker-Young-Simpson syndrome|Ohdo syndrome, SBBYS variant	http://purl.obolibrary.org/obo/MONDO_0011365	Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested.	MESH:C536717|DOID:0060290|http://identifiers.org/omim/603736|ORPHA:3047|SNOMEDCT:699298009
MONDO:0011368	papillary thyroid Microcarcinoma	biolink:Disease	mondo	NCIT:C46004|MESH:C563277|OMIM:603744|UMLS:C1709457|ICDO:8341/3		papillary Microcarcinoma of the thyroid gland|papillary Microcarcinoma of the thyroid|papillary thyroid Microcarcinoma|thyroid gland papillary Microcarcinoma|papillary thyroid gland Microcarcinoma	http://purl.obolibrary.org/obo/MONDO_0011368	A papillary carcinoma of the thyroid gland measuring 10mm or less in diameter. The survival rates of patients with this type of carcinoma are the same with those of the normal population.	NCIT:C46004|MESH:C563277|http://identifiers.org/omim/603744|UMLS:C1709457
MONDO:0011367	Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia	biolink:Disease	mondo	MESH:C538181|UMLS:C1863556|GARD:0010076|OMIM:603740	gard_rare	acrodysplasia with ossification abnormalities, short stature and fibular hypoplasia|acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia	http://purl.obolibrary.org/obo/MONDO_0011367	A hereditary disorder characterized by disproportionate short stature, a relatively large head, and a long triangular face early in life. This phenotype later evolves to one with in which the head is relatively small, the mandible is large and pointy. The affected individuals have normal cognitive abilities and lack any neurological deficits. Other typical features include a prominent nose, a voice with an unusual high-pitched sound, relatively small ears, curved digits (clinodactyly), short bones in fingers and toes (brachydactyly), small hands, underdeveloped (hypoplastic) fingernails, a waddling gait, and sparse hair post-pubertally.	http://identifiers.org/omim/603740|UMLS:C1863556|MESH:C538181
MONDO:0011369	hypercholesterolemia, autosomal dominant, 3	biolink:Disease	mondo	MESH:C566337|OMIM:603776|UMLS:C1863551	clingen	HCHOLA3|hypercholesterolemia, autosomal dominant, 3|PCSK9 familial hypercholesterolemia|hypercholesterolemia, autosomal dominant, type 3|familial hypercholesterolemia caused by mutation in PCSK9|hypercholesterolemia, autosomal dominant, 3; HCHOLA3|Fh3|low density lipoprotein cholesterol level quantitative trait locus 1	http://purl.obolibrary.org/obo/MONDO_0011369	Any familial hypercholesterolemia in which the cause of the disease is a mutation in the PCSK9 gene.	MESH:C566337|http://identifiers.org/omim/603776|UMLS:C1863551
ENVO:01000060	particulate matter	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000060	Particulate material is an environmental material which is composed of microscopic portions of solid or liquid material suspended in another environmental material.	
MONDO:0011360	autosomal recessive nonsyndromic deafness 14	biolink:Disease	mondo	MESH:C566344|DOID:0110469|UMLS:C1863613|OMIM:603678|ICD10:H90.3		DFNB14|deafness, autosomal recessive 14; DFNB14|autosomal recessive nonsyndromic deafness type 14|autosomal recessive deafness 14|deafness, autosomal recessive 14	http://purl.obolibrary.org/obo/MONDO_0011360	An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S554 and D7S2459 in the chromosome region 7q31.	DOID:0110469|http://identifiers.org/omim/603678|UMLS:C1863613|MESH:C566344
HGNC:10560	ATXN7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10560		
HGNC:10561	ATXN8OS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10561		
MONDO:0011362	hereditary proximal myopathy with early respiratory failure	biolink:Disease	mondo	SCTID:733490006|SCTID:702373006|MESH:C566343|UMLS:C4518808|GARD:0012591|ICD10:G71.0|Orphanet:178464|DOID:0111188|OMIM:603689|Orphanet:34521|UMLS:C1863599|UMLS:C1843633|OMIM:607569|MESH:C564377	gard_rare|ordo_disease	myofibrillar myopathy with early respiratory failure|HMERF|Edstrom myopathy|myopathy, distal, with early respiratory failure, autosomal dominant|ADMERF|hereditary inclusion body myopathy with early respiratory failure|HIBM-ERF|Edström myopathy|HMERF-ERF|distal myopathy with early respiratory muscle involvement|myopathy, proximal, with early respiratory muscle involvement	http://purl.obolibrary.org/obo/MONDO_0011362		MESH:C566343|DOID:0111188|SNOMEDCT:733490006|http://identifiers.org/omim/607569|UMLS:C1843633|MESH:C564377|http://identifiers.org/omim/603689|ORPHA:34521|UMLS:C1863599|UMLS:C4518808|SNOMEDCT:702373006|ORPHA:178464
MONDO:0011361	prostate cancer/brain cancer susceptibility	biolink:Disease	mondo	OMIM:603688	predisposition	Pcbc|prostate cancer/brain cancer susceptibility|Capb	http://purl.obolibrary.org/obo/MONDO_0011361		http://identifiers.org/omim/603688
MONDO:0011349	osteoma of cranial vault, familial	biolink:Disease	mondo	OMIM:603600|MESH:C566356|UMLS:C1863677		osteoma of cranial vault, familial	http://purl.obolibrary.org/obo/MONDO_0011349		http://identifiers.org/omim/603600|UMLS:C1863677|MESH:C566356
HP:0000777	Abnormality of the thymus	biolink:PhenotypicFeature	mondo	UMLS:C0262650|UMLS:C0685891|SNOMEDCT_US:93297002		Abnormality of the thymus	http://purl.obolibrary.org/obo/HP_0000777	Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation.	
MONDO:0037937	pyrimidine metabolism disease	biolink:Disease	mondo	UMLS:C0268127|SCTID:85444005		disorder of pyrimidine metabolism|disorder of pyrimidine nucleobase metabolic process|disorder of pyrimidine nucleobase metabolic process|pyrimidine nucleobase metabolic process disease	http://purl.obolibrary.org/obo/MONDO_0037937	A disease that has its basis in the disruption of pyrimidine nucleobase metabolic process.	UMLS:C0268127|SNOMEDCT:85444005
MONDO:0037938	inborn disorder of aspartate family metabolism	biolink:Disease	mondo			inborn aspartate family amino acid metabolic process disorder|rare inborn error of aspartate family amino acid metabolic process|inborn error of aspartate family amino acid metabolic process|rare inborn error of aspartate family amino acid metabolic process	http://purl.obolibrary.org/obo/MONDO_0037938	An acquired metabolic disease that is has its basis in the disruption of aspartate family amino acid metabolic process.	
HGNC:10526	SALL2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10526		
MONDO:0037939	porphyria	biolink:Disease	mondo	SCTID:418470004		porphyria	http://purl.obolibrary.org/obo/MONDO_0037939	Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Most types are inherited, but porphyria cutanea tarda may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS.	SNOMEDCT:418470004
MONDO:0011353	atrial septal defect, secundum, with various cardiac and Noncardiac defects	biolink:Disease	mondo	UMLS:C1863648|OMIM:603642|MESH:C566351		atrial septal defect, secundum, with various cardiac and Noncardiac defects	http://purl.obolibrary.org/obo/MONDO_0011353		MESH:C566351|http://identifiers.org/omim/603642|UMLS:C1863648
MONDO:0037940	inherited auditory system disease	biolink:Disease	mondo	SCTID:362991006|UMLS:C1285174		hereditary auditory system disease|auditory system hereditary disorder	http://purl.obolibrary.org/obo/MONDO_0037940	An instance of auditory system disease that is caused by an inherited modification of the individual's genome.	UMLS:C1285174|SNOMEDCT:362991006
MONDO:0011352	neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia	biolink:Disease	mondo	UMLS:C1863649|OMIM:603641|MESH:C566352		neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia	http://purl.obolibrary.org/obo/MONDO_0011352		MESH:C566352|http://identifiers.org/omim/603641|UMLS:C1863649
MONDO:0011355	cone-rod dystrophy 7	biolink:Disease	mondo	OMIM:603649|MESH:C566350|UMLS:C1863634|DOID:0111012		cone-rod dystrophy 7|RIMS1 cone-rod dystrophy|cone-rod dystrophy type 7|CORD7|cone-rod dystrophy caused by mutation in RIMS1|cone-rod dystrophy 7; CORD7	http://purl.obolibrary.org/obo/MONDO_0011355	Any cone-rod dystrophy in which the cause of the disease is a mutation in the RIMS1 gene.	MESH:C566350|DOID:0111012|http://identifiers.org/omim/603649|UMLS:C1863634
MONDO:0011354	situs inversus totalis with cystic dysplasia of kidneys and pancreas	biolink:Disease	mondo	UMLS:C1863647|MESH:C536666|OMIM:603643|GARD:0008567	gard_rare	situs inversus, cystic dysplastic kidney and pancreas, bowed lower limbs,severe intrauterine growth retardation, and oligohydramnios|situs inversus totalis with cystic dysplasia of kidneys and pancreas	http://purl.obolibrary.org/obo/MONDO_0011354		MESH:C536666|http://identifiers.org/omim/603643|UMLS:C1863647
MONDO:0011357	eccrine syringofibroadenomatosis with eyelid abnormalities	biolink:Disease	mondo	OMIM:603669|MESH:C566347|UMLS:C1863618		eccrine syringofibroadenomatosis with eyelid abnormalities	http://purl.obolibrary.org/obo/MONDO_0011357		UMLS:C1863618|MESH:C566347|http://identifiers.org/omim/603669
HP:0000774	Narrow chest	biolink:PhenotypicFeature	mondo	UMLS:C0426790|SNOMEDCT_US:249671009		Reduced anterior-posterior chest diameter|Low chest circumference|Narrow shoulders|Narrow thorax|Narrow chest	http://purl.obolibrary.org/obo/HP_0000774	Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.	
HGNC:10535	SAR1B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10535		
MONDO:0011356	exostosis, Dupuytren subungual	biolink:Disease	mondo	MESH:C535723|OMIM:603656|GARD:0008280|UMLS:C1863622	gard_rare	Dupuytren subungual exostosis|subungual exostoses|exostosis, Dupuytren subungual	http://purl.obolibrary.org/obo/MONDO_0011356		UMLS:C1863622|MESH:C535723|http://identifiers.org/omim/603656
HGNC:10536	SARDH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10536		
MONDO:0011359	acromelic frontonasal dysostosis	biolink:Disease	mondo	UMLS:C1863616|ICD10:Q75.8|MESH:C566345|OMIM:603671|DOID:0060342|GARD:0005539|Orphanet:1827|SCTID:715427008|GARD:0002393	gard_rare|ordo_malformation_syndrome	acromelic frontonasal dysplasia|AFND|acromelic frontonasal dysostosis|AFND|acromelic frontonasal dysostosis; AFND|frontonasal dysplasia acromelic|Toriello syndrome	http://purl.obolibrary.org/obo/MONDO_0011359	Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.	SNOMEDCT:715427008|UMLS:C0796182|UMLS:C1863616|MESH:C566345|ORPHA:1827|MESH:C535657|DOID:0060342|http://identifiers.org/omim/603671
MONDO:0011358	blue nevi, familial multiple	biolink:Disease	mondo	MESH:C566346|UMLS:C1863617|OMIM:603670		blue nevi, familial multiple	http://purl.obolibrary.org/obo/MONDO_0011358		UMLS:C1863617|MESH:C566346|http://identifiers.org/omim/603670
MONDO:0011351	autosomal recessive nonsyndromic deafness 21	biolink:Disease	mondo	ICD10:H90.3|DOID:0110479|MESH:C566353|OMIM:603629|UMLS:C1863655		autosomal recessive nonsyndromic deafness caused by mutation in tecta|autosomal recessive deafness 21|DFNB21|deafness, autosomal recessive type 21|deafness, autosomal recessive 21; DFNB21|deafness, autosomal recessive 21|TECTA autosomal recessive nonsyndromic deafness|tecta autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness caused by mutation in TECTA|autosomal recessive nonsyndromic deafness type 21	http://purl.obolibrary.org/obo/MONDO_0011351	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene.	MESH:C566353|DOID:0110479|http://identifiers.org/omim/603629|UMLS:C1863655
MONDO:0011350	autosomal dominant nonsyndromic deafness 17	biolink:Disease	mondo	ICD10:H90.3|DOID:0110548|GARD:0009726|OMIM:603622		DFNA17|deafness, autosomal dominant type 17|autosomal dominant nonsyndromic deafness type 17|nonsyndromic hereditary deafness DFNA17|MYH9 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 17; DFNA17|autosomal dominant deafness 17|late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration|autosomal dominant nonsyndromic deafness caused by mutation in MYH9|Cochleosaccular Degeneration|deafness, autosomal dominant 17|deafness, autosomal dominant nonsyndromic sensorineural 17	http://purl.obolibrary.org/obo/MONDO_0011350	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH9 gene.	DOID:0110548|http://identifiers.org/omim/603622
MONDO:0011339	hereditary spastic paraplegia 8	biolink:Disease	mondo	MESH:C580458|ICD10:G11.4|Orphanet:100989|UMLS:C1863704|OMIM:603563|DOID:0110823|GARD:0009591	ordo_disease	hereditary spastic paraplegia type 8|autosomal dominant spastic paraplegia 8|spastic paraplegia 8|spastic paraplegia 8, autosomal dominant; SPG8|SPG8|spastic paraplegia 8, autosomal dominant|hereditary spastic paraplegia caused by mutation in WASHC5|WASHC5 hereditary spastic paraplegia|autosomal dominant spastic paraplegia type 8	http://purl.obolibrary.org/obo/MONDO_0011339	Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the WASHC5 gene.	http://identifiers.org/omim/603563|UMLS:C1863704|ORPHA:100989|MESH:C536867|MESH:C580458|DOID:0110823
HP:0000789	Infertility	biolink:PhenotypicFeature	mondo	UMLS:C0021359|SNOMEDCT_US:15296000|MSH:D007246|SNOMEDCT_US:8619003		Infertility	http://purl.obolibrary.org/obo/HP_0000789		
MONDO:0011338	Omenn syndrome	biolink:Disease	mondo	SCTID:722067005|ICD10:D81.8|NCIT:C61240|GARD:0008198|OMIM:603554|UMLS:C1801959|MedDRA:10069097|DOID:0060010|Orphanet:39041	ordo_disease|gard_rare	Omenn syndrome|reticuloendotheliosis, familial, with eosinophilia|reticuloendotheliosis familial with eosinophilia|combined immunodeficiency with hypereosinophilia|severe combined immunodeficiency with hypereosinophilia	http://purl.obolibrary.org/obo/MONDO_0011338	Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID).	http://identifiers.org/omim/603554|ORPHA:39041|NCIT:C61240|UMLS:C1801959|DOID:0060010|MEDDRA:10069097|SNOMEDCT:722067005
MONDO:0011342	SLC35A1-CDG	biolink:Disease	mondo	GARD:0012409|ICD10:E77.8|DOID:0070258|OMIM:603585|UMLS:C1970344|Orphanet:238459|SCTID:723624008|MESH:C567040	ordo_disease	congenital disorder of glycosylation, type IIf|congenital disorder of glycosylation type IIf|CDG syndrome type IIf|congenital disorder of glycosylation, type IIf; CDG2F|congenital disorder of glycosylation type 2f|CDG-IIf|carbohydrate deficient glycoprotein syndrome type IIf|CDG2F|CDG IIf|SLC35A1-CDG (CDG-IIf)|CMP-sialic acid transporter deficiency	http://purl.obolibrary.org/obo/MONDO_0011342	SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.	MESH:C567040|SNOMEDCT:723624008|ORPHA:238459|http://identifiers.org/omim/603585|DOID:0070258|UMLS:C1970344
HGNC:10542	SBF1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10542		
MONDO:0011341	microcephaly, facial abnormalities, micromelia, and mental retardation	biolink:Disease	mondo	UMLS:C1863702|OMIM:603572|MESH:C566361		microcephaly, facial abnormalities, micromelia, and intellectual disability|microcephaly, facial abnormalities, micromelia, and mental retardation	http://purl.obolibrary.org/obo/MONDO_0011341		UMLS:C1863702|MESH:C566361|http://identifiers.org/omim/603572
MONDO:0011344	parotitis, juvenile recurrent	biolink:Disease	mondo	UMLS:C1863691|MESH:C566359|OMIM:603588		parotitis, juvenile recurrent	http://purl.obolibrary.org/obo/MONDO_0011344		UMLS:C1863691|MESH:C566359|http://identifiers.org/omim/603588
HGNC:10540	SAT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10540		
MONDO:0011343	follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts	biolink:Disease	mondo	UMLS:C1863692|OMIM:603587|MESH:C566360		follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts	http://purl.obolibrary.org/obo/MONDO_0011343		UMLS:C1863692|MESH:C566360|http://identifiers.org/omim/603587
MONDO:0011346	xanthinuria type II	biolink:Disease	mondo	UMLS:C1863688|MESH:C566358|ICD10:E79.8|OMIM:603592|GARD:0005620|Orphanet:93602	ordo_etiological_subtype|gard_rare	type II xanthinuria|xanthinuria type 2|xanthinuria, type 2|xanthine dehydrogenase and aldehyde oxidase combined deficiency of|XDH and AOX dual deficiency|xanthinuria, type II; XAN2|xanthinuria, type II|XAN2|type 2 xanthinuria|xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency|xanthine dehydrogenase and aldehyde oxidase, combined deficiency of	http://purl.obolibrary.org/obo/MONDO_0011346	Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic.	ORPHA:93602|UMLS:C1863688|MESH:C566358|http://identifiers.org/omim/603592
MONDO:0011345	facial dysmorphism, selective tooth agenesis, and choroid calcification	biolink:Disease	mondo	MESH:C567039|OMIM:603589|UMLS:C1970343		facial dysmorphism, selective tooth agenesis, and choroid calcification	http://purl.obolibrary.org/obo/MONDO_0011345		UMLS:C1970343|MESH:C567039|http://identifiers.org/omim/603589
HP:0009118	Aplasia/Hypoplasia of the mandible	biolink:PhenotypicFeature	mondo	UMLS:C4280401|UMLS:C3494426|UMLS:C4024589|UMLS:C4280261|MSH:D063173|UMLS:C4021371			http://purl.obolibrary.org/obo/HP_0009118	Absence or underdevelopment of the mandible.	
HGNC:10547	SC5D	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10547		
MONDO:0011348	non-syndromic polydactyly	biolink:Disease	mondo	ICD10:Q69.9|Orphanet:2913|MedDRA:10036063|GARD:0004410|ICD10:Q69.2|ICD10:Q69.1|ICD10:Q69.0	ordo_group_of_disorders	isolated polydactyly|supernumerary digits|Extra digits|nonsyndromic polydactyly (disease)|polydactylia|nonsyndromic polydactyly|isolated polydactyly (disease)	http://purl.obolibrary.org/obo/MONDO_0011348	A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits.	MESH:D017689|UMLS:C0152427|MEDDRA:10036063|ORPHA:2913
CHEBI:66956	antidyskinesia agent	biolink:ChemicalSubstance	mondo			antidyskinesia drugs|antidyskinesia drug|antidyskinesia agents|antidyskinetic drug|antidyskinetic agent|antidyskinetic agents|antidyskinetic drugs	http://purl.obolibrary.org/obo/CHEBI_66956	Any compound which can be used to treat or alleviate the symptoms of dyskinesia.	
MONDO:0011347	craniosynostosis with ectopia lentis	biolink:Disease	mondo	UMLS:C1863678|MESH:C566357|OMIM:603595		craniosynostosis with ectopia lentis	http://purl.obolibrary.org/obo/MONDO_0011347		UMLS:C1863678|MESH:C566357|http://identifiers.org/omim/603595
HGNC:10545	MSMO1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10545		
HP:0009115	Aplasia/hypoplasia involving the skeleton	biolink:PhenotypicFeature	mondo	UMLS:C4024592		Absent/small skeleton|Absent/underdeveloped skeleton	http://purl.obolibrary.org/obo/HP_0009115	Absence (due to failure to form) or underdevelopment of one or more components of the skeleton.	
HP:0012757	Abnormal neuron morphology	biolink:PhenotypicFeature	mondo	UMLS:C4022739		Abnormal neuron shape|Abnormal neuronal morphology	http://purl.obolibrary.org/obo/HP_0012757	A structural anomaly of a neuron.	
HP:0012758	Neurodevelopmental delay	biolink:PhenotypicFeature	mondo	UMLS:C4022738			http://purl.obolibrary.org/obo/HP_0012758		
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	biolink:PhenotypicFeature	mondo	UMLS:C4024591			http://purl.obolibrary.org/obo/HP_0009116		
HP:0012759	Neurodevelopmental abnormality	biolink:PhenotypicFeature	mondo	UMLS:C4022737			http://purl.obolibrary.org/obo/HP_0012759	A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities.	
MONDO:0011340	congenital tracheal stenosis	biolink:Disease	mondo	GARD:0012008|ICD10:Q32.1|ICD9:748.3|Orphanet:141127|MESH:C566362|SCTID:9660004|OMIM:603569	gard_rare|ordo_morphological_anomaly	tracheobronchial stenosis, congenital	http://purl.obolibrary.org/obo/MONDO_0011340		SNOMEDCT:9660004|MESH:C566362|UMLS:C0265767|http://identifiers.org/omim/603569|ORPHA:141127
MONDO:0013909	HHV8S	biolink:Disease	mondo	OMIM:614836		HHV8S|HUMAN HERPESVIRUS 8, susceptibility to|HHV-8, susceptibility to|HUMAN HERPESVIRUS 8, susceptibility to; HHV8S	http://purl.obolibrary.org/obo/MONDO_0013909		http://identifiers.org/omim/614836
MONDO:0001921	chronic atticoantral disease	biolink:Disease	mondo	UMLS:C0565831|COHD:260730|UMLS:C0155441|ICD10:H66.2|SCTID:267759006|ICD9:382.2|DOID:14248|ICD10:H66.20		chronic atticoantral suppurative otitis media	http://purl.obolibrary.org/obo/MONDO_0001921	A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection.	DOID:14248|SNOMEDCT:267759006|UMLS:C0565831|UMLS:C0155441
MONDO:0001920	chronic purulent otitis media	biolink:Disease	mondo	SCTID:38394007|ICD10:H66.3|ICD9:382.3|COHD:377886|UMLS:C0271454|NCIT:C128386|DOID:14247		chronic suppurative otitis Media|suppurative otitis media, chronic|CSOM|chronic suppurative otitis media	http://purl.obolibrary.org/obo/MONDO_0001920	Otitis media that persists for at least six weeks, and that is associated with otorrhea through a perforated tympanic membrane.	UMLS:C0271454|SNOMEDCT:38394007|NCIT:C128386|DOID:14247
MONDO:0013903	NYS7	biolink:Disease	mondo	OMIM:614826|UMLS:C3553801		NYSTAGMUS 7, congenital, autosomal dominant; NYS7|NYS7|NYSTAGMUS 7, congenital, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0013903		http://identifiers.org/omim/614826|UMLS:C3553801
MONDO:0013904	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	biolink:Disease	mondo	DOID:0111231|UMLS:C3553813|OMIM:614830		MDDGA8|POMGNT2 muscular dystrophy-dystroglycanopathy, type A|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8; MDDGA8|muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMGNT2|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8|Walker-Warburg syndrome or muscle-eye-brain disease, Gtdc2-related	http://purl.obolibrary.org/obo/MONDO_0013904	Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMGNT2 gene.	http://identifiers.org/omim/614830|DOID:0111231|UMLS:C3553813
MONDO:0013901	spermatogenic failure 10	biolink:Disease	mondo	OMIM:614822|DOID:0070178|UMLS:C3553793		SEPT12 azoospermia|SPGF10|spermatogenic failure with defective sperm annulus|spermatogenic failure type 10|azoospermia caused by mutation in SEPT12|spermatogenic failure 10|spermatogenic failure 10; SPGF10	http://purl.obolibrary.org/obo/MONDO_0013901	Any azoospermia in which the cause of the disease is a mutation in the SEPT12 gene.	http://identifiers.org/omim/614822|UMLS:C3553793|DOID:0070178
CL:0000404	electrically signaling cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000404	A cell that initiates an electrical signal and passes that signal to another cell.	
MONDO:0013902	aortic valve disease 2	biolink:Disease	mondo	DOID:0080334|OMIM:614823|UMLS:C3542024		aortic valve stenosis|aortic valve disease type 2|AOVD2|aortic valve disease 2; AOVD2|bicuspid aortic valve|aortic valve disease 2|SMAD6 aortic valve disease|aortic valve disease caused by mutation in SMAD6	http://purl.obolibrary.org/obo/MONDO_0013902	Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene.	http://identifiers.org/omim/614823|DOID:0080334|UMLS:C3542024
MONDO:0013907	bilateral generalized polymicrogyria	biolink:Disease	mondo	GARD:0010786|Orphanet:208447|ICD10:Q04.3|OMIM:614833|UMLS:C3553831	gard_rare|ordo_clinical_subtype	polymicrogyria with seizures|microcephaly, short stature, and polymicrogyria with or without seizures|bilateral generalised polymicrogyria|MSSP|microcephaly, short stature, and polymicrogyria with or without seizures; MSSP|polymicrogyria with seizures; PMGYS|PMGYS	http://purl.obolibrary.org/obo/MONDO_0013907	Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person.	http://identifiers.org/omim/614833|ORPHA:208447|UMLS:C3553831
MONDO:0013908	TTPP3	biolink:Disease	mondo	OMIM:614834	predisposition	thyrotoxic periodic paralysis, susceptibility to, 3|TTPP3|thyrotoxic periodic paralysis, susceptibility to, 3; TTPP3	http://purl.obolibrary.org/obo/MONDO_0013908		http://identifiers.org/omim/614834
MONDO:0013905	autosomal recessive spinocerebellar ataxia 13	biolink:Disease	mondo	ICD10:G11.1|UMLS:C3553816|OMIM:614831|Orphanet:324262|DOID:0080062	ordo_clinical_subtype	GRM1 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome|GRM1 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome|autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency|spinocerebellar ataxia, autosomal recessive 13|autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency|spinocerebellar ataxia, autosomal recessive 13; SCAR13|autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRM1|autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRM1|autosomal recessive spinocerebellar ataxia type 13|spinocerebellar ataxia, autosomal recessive type 13|SCAR13	http://purl.obolibrary.org/obo/MONDO_0013905	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain.	http://identifiers.org/omim/614831|DOID:0080062|UMLS:C3553816|ORPHA:324262
CL:0000408	male gamete	biolink:Cell	mondo	BTO:0001277|CALOHA:TS-0949			http://purl.obolibrary.org/obo/CL_0000408		
MONDO:0013906	amelogenesis imperfecta hypomaturation type 2A4	biolink:Disease	mondo	OMIM:614832|DOID:0110062|UMLS:C3553830|ICD10:K00.5		amelogenesis imperfecta caused by mutation in ODAPH|AI2A4|amelogenesis imperfecta, hypomaturation type, IIA4; AI2A4|amelogenesis imperfecta hypomaturation type IIA4|amelogenesis imperfecta type IIA4|ODAPH amelogenesis imperfecta|amelogenesis imperfecta, hypomaturation type, IIA4	http://purl.obolibrary.org/obo/MONDO_0013906	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ODAPH gene.	http://identifiers.org/omim/614832|DOID:0110062|UMLS:C3553830
UBERON:0007135	neural keel	biolink:AnatomicalEntity	mondo			presumptive central nervous system	http://purl.obolibrary.org/obo/UBERON_0007135	An intermediate stage (between the neural plate and neural rod) during the early segmentation period in the morphogenesis of the central nervous system primordium; the keel is roughly triangular shaped in cross section.	
UBERON:0007134	trunk ganglion	biolink:AnatomicalEntity	mondo			trunk ganglia|body ganglion	http://purl.obolibrary.org/obo/UBERON_0007134	Ganglion which is located in the trunk.	
MONDO:0001919	cystoid macular retinal degeneration	biolink:Disease	mondo	DOID:14245|ICD9:362.53|SCTID:14046000|UMLS:C0154850|COHD:376115|ICD10:H35.35		cystoid macular degeneration of retina	http://purl.obolibrary.org/obo/MONDO_0001919		UMLS:C0154850|SNOMEDCT:14046000|DOID:14245
MONDO:0013910	hypogonadotropic hypogonadism 8 with or without anosmia	biolink:Disease	mondo	DOID:0090074|UMLS:C3553841|ICD10:E23.0|OMIM:614837		hypogonadotropic hypogonadism 8 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in KISS1R|hypogonadotropic hypogonadism 8 with or without anosmia; HH8|KISS1R hypogonadotropic hypogonadism|HH8	http://purl.obolibrary.org/obo/MONDO_0013910	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1R gene.	DOID:0090074|UMLS:C3553841|http://identifiers.org/omim/614837
MONDO:0013911	hypogonadotropic hypogonadism 9 with or without anosmia	biolink:Disease	mondo	DOID:0090085|ICD10:E23.0|OMIM:614838|UMLS:C3553842		hypogonadotropic hypogonadism 9 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in NSMF|hypogonadotropic hypogonadism 9 with or without anosmia; HH9|HH9|NSMF hypogonadotropic hypogonadism	http://purl.obolibrary.org/obo/MONDO_0013911	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the NSMF gene.	http://identifiers.org/omim/614838|DOID:0090085|UMLS:C3553842
MONDO:0001914	scleromalacia perforans	biolink:Disease	mondo	ICD9:379.04|DOID:14230|ICD10:H15.05|SCTID:26664005|UMLS:C0155354			http://purl.obolibrary.org/obo/MONDO_0001914	A rare form of necrotizing anterior scleritis without pain in which the sclera is notably white, avascular and thin. Both choroidal exposure and staphyloma formation may occur.	SNOMEDCT:26664005|DOID:14230|UMLS:C0155354
MONDO:0001913	oligospermia	biolink:Disease	mondo	ICD9:606.1|ICD10:N46.1|MESH:D009845|ICD10:N46.11|UMLS:C0028960|HP:0000798|DOID:14228			http://purl.obolibrary.org/obo/MONDO_0001913	Decreased number of spermatozoa in the semen.	UMLS:C0028960|MESH:D009845|DOID:14228|NCIT:C34860
MONDO:0001912	acute frontal sinusitis	biolink:Disease	mondo	ICD10:J01.10|ICD10:J01.1|ICD9:461.1|SCTID:91038008|UMLS:C0155805|COHD:139850|DOID:14225		frontal sinusitis, acute	http://purl.obolibrary.org/obo/MONDO_0001912	Acute form of frontal sinusitis.	DOID:14225|UMLS:C0155805|SNOMEDCT:91038008
CHEBI:15366	acetic acid	biolink:ChemicalSubstance	mondo			acide acetique|E 260|CH3CO2H|MeCOOH|Methanecarboxylic acid|ethoic acid|AcOH|Ethanoic acid|MeCO2H|HOAc|Ethylic acid|INS No. 260|E260|Acetic acid|ACETIC ACID|acetic acid|CH3-COOH|Essigsaeure|E-260	http://purl.obolibrary.org/obo/CHEBI_15366	A simple monocarboxylic acid containing two carbons.	
MONDO:0001911	tracheal calcification	biolink:Disease	mondo	UMLS:C0264324|ICD9:519.19|SCTID:81089005|HP:0002787|DOID:14224		calcification of trachea	http://purl.obolibrary.org/obo/MONDO_0001911	Abnormal deposits of calcium in the tracheal tissue.	SNOMEDCT:81089005|NCIT:C35314|DOID:14224|UMLS:C0264324
CHEBI:15365	acetylsalicylic acid	biolink:ChemicalSubstance	mondo			2-(acetyloxy)benzoic acid|Acetylsalicylic acid|2-Acetoxybenzenecarboxylic acid|ASA|Easprin|acidum acetylsalicylicum|2-(ACETYLOXY)BENZOIC ACID|Aspirin|acido acetilsalicilico|Acetylsalicylate|O-acetylsalicylic acid|o-carboxyphenyl acetate|salicylic acid acetate|Azetylsalizylsaeure|Acetylsalicylsaeure|2-acetoxybenzoic acid|acide acetylsalicylique|acide 2-(acetyloxy)benzoique|o-acetoxybenzoic acid	http://purl.obolibrary.org/obo/CHEBI_15365	A member of the class of benzoic acids that is salicylic acid in which the hydrogen that is attached to the phenolic hydroxy group has been replaced by an acetoxy group. A non-steroidal anti-inflammatory drug with cyclooxygenase inhibitor activity.	
MONDO:0001918	epiphora due to excess lacrimation	biolink:Disease	mondo	ICD10:H04.21|DOID:14244|COHD:441855|ICD9:375.21|UMLS:C0155233|SCTID:31788005			http://purl.obolibrary.org/obo/MONDO_0001918		DOID:14244|SNOMEDCT:31788005|UMLS:C0155233
MONDO:0001917	chronic perichondritis of pinna	biolink:Disease	mondo	UMLS:C0155391|DOID:14243|SCTID:45431004|ICD9:380.02		perichondritis of auricle, chronic|chronic pinna perichondritis|chronic perichondritis of auricle	http://purl.obolibrary.org/obo/MONDO_0001917	Chronic form of perichondritis of auricle.	SNOMEDCT:45431004|DOID:14243|UMLS:C0155391
MONDO:0001916	gastrointestinal tularemia	biolink:Disease	mondo	ICD9:021.1|ICD9:021.8|ICD10:A21.3|DOID:14239		enteric tularemia|intestinal tularaemia	http://purl.obolibrary.org/obo/MONDO_0001916	A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting.	DOID:14239
MONDO:0001915	orbital cyst	biolink:Disease	mondo	HP:0001144|COHD:440418|SCTID:31021007|DOID:14233|ICD10:H05.81|UMLS:C0155285|ICD9:376.81		orbit cyst	http://purl.obolibrary.org/obo/MONDO_0001915		DOID:14233|UMLS:C0155285|SNOMEDCT:31021007
MONDO:0001932	obsolete atrophic vulva	biolink:Disease	mondo	ICD10:N90.5|COHD:438208|SCTID:248861000|ICD9:624.1|UMLS:C0156393|DOID:14275		atrophic vulva|atrophic vulvitis|atrophy of vulva	http://purl.obolibrary.org/obo/MONDO_0001932		DOID:14275|UMLS:C0156393|SNOMEDCT:248861000
CHEBI:27369	zwitterion	biolink:ChemicalSubstance	mondo			zwitterionic compounds|zwitteriones|zwitterions|compuestos zwitterionicos|compose zwitterionique|zwitterion	http://purl.obolibrary.org/obo/CHEBI_27369	A neutral compound having formal unit electrical charges of opposite sign on non-adjacent atoms. Sometimes referred to as inner salts, dipolar ions (a misnomer).	
MONDO:0001931	pericholangitis	biolink:Disease	mondo	DOID:14272|SCTID:111373008|UMLS:C0031052|NCIT:C34916			http://purl.obolibrary.org/obo/MONDO_0001931	Inflammation of the tissue surrounding the biliary ducts.	DOID:14272|NCIT:C34916|SNOMEDCT:111373008|UMLS:C0031052
MONDO:0001930	acute cholangitis	biolink:Disease	mondo	DOID:14271|SCTID:6215006|NCIT:C35334|UMLS:C0267917		cholangitis, acute|acute cholangitis	http://purl.obolibrary.org/obo/MONDO_0001930	Cholangitis that is both sudden in onset and of a relatively short duration.	UMLS:C0267917|SNOMEDCT:6215006|DOID:14271|NCIT:C35334
CL:0000413	haploid cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000413	A cell whose nucleus contains a single haploid genome.	
CL:0000417	endopolyploid cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000417		
UBERON:0034763	hindbrain commissure	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0034763	Any commissure within the hindbrain.	
UBERON:0034764	remnant of cardiac valve	biolink:AnatomicalEntity	mondo			vestigial cardiac valve	http://purl.obolibrary.org/obo/UBERON_0034764		
HGNC:10519	SACS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10519		
CHEBI:27363	zinc atom	biolink:ChemicalSubstance	mondo			Zn2+|zincum|Zink|cinc|zinc|Zn(II)|Zn|zinc|30Zn	http://purl.obolibrary.org/obo/CHEBI_27363		
UBERON:0007124	pharyngeal pouch 3	biolink:AnatomicalEntity	mondo			visceral pouch 3|third pharyngeal pouch|3rd pharyngeal pouch endoderm|pharyngeal pouches 3|third arch pharyngeal pouch|3rd branchial pouch|3rd arch branchial pouch endoderm|third visceral pouch|3rd arch branchial pouch	http://purl.obolibrary.org/obo/UBERON_0007124	A pharyngeal pouch that between pharyngeal arches 3 and 4.	
HGNC:5433	IFNAR2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5433		
HGNC:10521	SAG	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10521		
UBERON:0007123	pharyngeal pouch 2	biolink:AnatomicalEntity	mondo			second pharyngeal pouch|visceral pouch 2|2nd arch pouch endoderm|2nd pharyngeal pouch endoderm|2nd branchial pouch|2nd arch branchial pouch endoderm|pharyngeal pouches 2|second visceral pouch|second arch pharyngeal pouch|2nd arch branchial pouch	http://purl.obolibrary.org/obo/UBERON_0007123	A pharyngeal puch that is between the pharyngeal arches 2 and 3.	
UBERON:0007122	pharyngeal pouch 1	biolink:AnatomicalEntity	mondo			visceral pouch 1|first visceral pouch|hyomandibular pouch|1st arch branchial pouch|pharyngeal pouches 1|1st arch pouch endoderm|1st pharyngeal pouch endoderm|1st arch branchial pouch endoderm|1st branchial pouch|first pharyngeal pouch|first arch pharyngeal pouch	http://purl.obolibrary.org/obo/UBERON_0007122	A pharyngeal pouch that is between pharyngeal arches 1 and 2.	
HGNC:10524	SALL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10524		
MONDO:0013900	alternating hemiplegia of childhood 2	biolink:Disease	mondo	UMLS:C3553788|OMIM:614820		alternating hemiplegia of childhood type 2|alternating hemiplegia of childhood 2|alternating hemiplegia of childhood 2; AHC2|AHC2|ATP1A3 alternating hemiplegia of childhood|alternating hemiplegia of childhood caused by mutation in ATP1A3	http://purl.obolibrary.org/obo/MONDO_0013900	Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A3 gene.	http://identifiers.org/omim/614820|UMLS:C3553788
HGNC:5438	IFNG	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5438		
HGNC:5439	IFNGR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5439		
CL:0000412	polyploid cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000412	A cell whose nucleus, or nuclei, each contain more than two haploid genomes.	
MONDO:0001925	retinal dystrophy in systemic or cerebroretinal lipidoses	biolink:Disease	mondo	DOID:14253|ICD9:362.71			http://purl.obolibrary.org/obo/MONDO_0001925		DOID:14253
MONDO:0001924	dystrophies primarily involving the retinal pigment epithelium	biolink:Disease	mondo	ICD10:H35.54|DOID:14252|ICD9:362.76			http://purl.obolibrary.org/obo/MONDO_0001924		DOID:14252
MONDO:0001923	vitreoretinal dystrophy	biolink:Disease	mondo	ICD9:362.73|ICD10:H35.51|DOID:14251|SCTID:79556007|COHD:373772|UMLS:C0154863		vitreoretinal dystrophies	http://purl.obolibrary.org/obo/MONDO_0001923		DOID:14251|SNOMEDCT:79556007|UMLS:C0154863
MONDO:0001922	pyoureter	biolink:Disease	mondo	DOID:1425|SCTID:85884009|NCIT:C35666|UMLS:C0034223|ICD9:593.89		ureter abscess	http://purl.obolibrary.org/obo/MONDO_0001922	An abscess that is located in the ureter.	NCIT:C35666|UMLS:C0034223|DOID:1425|SNOMEDCT:85884009
MONDO:0001929	ascending cholangitis	biolink:Disease	mondo	NCIT:C35372|SCTID:26918003|DOID:14270|UMLS:C0311273|ICD10:K83.0		ascending cholangitis	http://purl.obolibrary.org/obo/MONDO_0001929	Acute infection of the bile ducts caused by bacteria ascending from the small intestine.	NCIT:C35372|SNOMEDCT:26918003|DOID:14270|UMLS:C0311273
MONDO:0001928	suppurative cholangitis	biolink:Disease	mondo	UMLS:C0267924|ICD10:K83.0|NCIT:C35336|SCTID:69850007|DOID:14269		suppurative cholangitis	http://purl.obolibrary.org/obo/MONDO_0001928	Cholangitis that is characterized by pyogenic organisms.	NCIT:C35336|UMLS:C0267924|SNOMEDCT:69850007|DOID:14269
UBERON:0007128	glomeral mesenchyme	biolink:AnatomicalEntity	mondo			glomerulus|corpuscle	http://purl.obolibrary.org/obo/UBERON_0007128	Portion of tissue that consists of the precursors of the pronephric glomus or glomerulus; derived from the medial portion of the pronephric intermediate mesoderm.	
MONDO:0001927	pulmonary valve insufficiency	biolink:Disease	mondo	DOID:14265|MESH:D011665|NCIT:C50848|SCTID:194995005		regurgitation, pulmonary|pulmonary regurg.|pulmonary incompetence|pulmonary valve regurgitation|pulmonary regurgitation|pulmonary insufficiency following trauma and surgery|pulmonic insufficiency|pulmonary incompetence, non-rheumatic|pulmonic valve regurgitation|pulmonic insufficiency NOS|pulmonary valvular regurgitation	http://purl.obolibrary.org/obo/MONDO_0001927	Dysfunction of the pulmonary valve characterized by incomplete valve closure.	SNOMEDCT:194995005|DOID:14265|NCIT:C50848|MESH:D011665
MONDO:0001926	ureteral disease	biolink:Disease	mondo	DOID:1426|SCTID:128073008|MESH:D014515|NCIT:C27148|UMLS:C0403608|UMLS:C0041954		ureter disease or disorder|ureter disorder|disorder of ureter|disorder of ureter|disease of ureter|disease or disorder of ureter|ureteric disease|ureter disease|ureteric disorder	http://purl.obolibrary.org/obo/MONDO_0001926	A non-neoplastic or neoplastic disorder affecting the ureter.	MESH:D014515|SNOMEDCT:128073008|NCIT:C27148|UMLS:C0403608|UMLS:C0041954|DOID:1426
NCBITaxon:5600	Phialophora <family Herpotrichiellaceae>	organism taxon	mondo	GC_ID:1		Phialophora	http://purl.obolibrary.org/obo/NCBITaxon_5600		
CHEBI:30985	4,4'-bipyridine	biolink:ChemicalSubstance	mondo			4,4'-bipyridyl|gamma,gamma'-dipyridyl|4,4'-bipyridine|4,4'-bpy|gamma,gamma'-bipyridyl|4-(4-pyridyl)pyridine|4,4'-dipyridine|4,4-Bipyridin|4,4'-dipyridyl	http://purl.obolibrary.org/obo/CHEBI_30985	A  bipyridine in which the two pyridine moieties are linked by a bond between positions C-4 and C-4'.	
UBERON:0034770	bulbourethral gland epithelium	biolink:AnatomicalEntity	mondo			epithelium of bulbourethral gland|epithelium of bulbourethral gland of male	http://purl.obolibrary.org/obo/UBERON_0034770		
NCBITaxon:27592	Bovinae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_27592		
NCBITaxon:197911	Alphainfluenzavirus	organism taxon	mondo	GC_ID:1		Influenzavirus A	http://purl.obolibrary.org/obo/NCBITaxon_197911		
NCBITaxon:197912	Betainfluenzavirus	organism taxon	mondo	GC_ID:1		Influenzavirus B	http://purl.obolibrary.org/obo/NCBITaxon_197912		
NCBITaxon:197913	Gammainfluenzavirus	organism taxon	mondo	GC_ID:1		Influenzavirus C	http://purl.obolibrary.org/obo/NCBITaxon_197913		
UBERON:0010760	supraglenoid tubercle	biolink:AnatomicalEntity	mondo			supraglenoid tuberosity|tuberculum supraglenoidale	http://purl.obolibrary.org/obo/UBERON_0010760	The supraglenoid tubercle is a region of the scapula to which the long head of the biceps brachii muscle attaches.	
CHEBI:39317	growth regulator	biolink:ChemicalSubstance	mondo			growth regulators	http://purl.obolibrary.org/obo/CHEBI_39317	Any chemical substance that inhibits the life-cycle of an organism.	
GO:1904100	positive regulation of protein O-linked glycosylation	biolink:OntologyClass	mondo			up-regulation of protein amino acid O-linked glycosylation|up regulation of protein amino acid O-linked glycosylation|upregulation of protein O-linked glycosylation|activation of protein amino acid O-linked glycosylation|positive regulation of protein amino acid O-linked glycosylation|upregulation of protein amino acid O-linked glycosylation|up regulation of protein O-linked glycosylation|up-regulation of protein O-linked glycosylation|activation of protein O-linked glycosylation	http://purl.obolibrary.org/obo/GO_1904100	Any process that activates or increases the frequency, rate or extent of protein O-linked glycosylation.	
UBERON:0009778	pleural sac	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009778	A serous sac that has the pleura and the pleural cavity as parts.	
UBERON:0034768	morphological feature	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0034768	A part of an organism or organ that is continuous with its surroundings and distinguished from its surroundings based on morphology.	
UBERON:0034769	lymphomyeloid tissue	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0034769		
UBERON:0010758	subdivision of organism along appendicular axis	biolink:AnatomicalEntity	mondo			appendage segment|appendicular segment	http://purl.obolibrary.org/obo/UBERON_0010758	A major subdivision of an organism that divides an organism along an axis perpedicular to the main body anterior-posterior axis. In vertebrates, this is typically a fin or limb segment. In insects, this includes segments of appendages such as antennae, as well as segments of the insect leg.	
NCBITaxon:689832	Sedoreovirinae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_689832		
UBERON:0007119	neck of femur	biolink:AnatomicalEntity	mondo			neck of the femur|femur neck|collum femoris|femoral neck	http://purl.obolibrary.org/obo/UBERON_0007119	The femur neck or neck of the femur is a flattened pyramidal process of bone, connecting the femoral head with the femoral shaft, and forming with the latter a wide angle opening medialward.	
NCBITaxon:689831	Spinareovirinae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_689831		
UBERON:0007118	umbilicus	biolink:AnatomicalEntity	mondo			navel|umbilical region|umbilical part of abdomen	http://purl.obolibrary.org/obo/UBERON_0007118	The pit in the center of the abdominal wall marking the point where the umbilical cord entered in the fetus.	
UBERON:0009773	renal tubule	biolink:AnatomicalEntity	mondo			renal tubule (generic)|tubule of excretory system	http://purl.obolibrary.org/obo/UBERON_0009773	A renal tubule is a tube that filters, re-absorbs and secretes substances to rid an organism of waste and to play a role in fluid homeostasis.	
HGNC:5440	IFNGR2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5440		
MONDO:0001910	ochronosis disorder	biolink:Disease	mondo	MESH:D009794|DOID:14223|GARD:0007231|HP:0030764|NCIT:C84938|ICD9:270.2|ICD10:E70.29|UMLS:C0028817|SCTID:410042009		ochronosis	http://purl.obolibrary.org/obo/MONDO_0001910	A disorder characterized by bluish-black discoloration of the cartilaginous tissues due to accumulation of homogentisic acid. It is associated with alkaptonuria. Signs and symptoms include dark urine, skin pigmentation, and arthritis.	NCIT:C84938|UMLS:C0028817|DOID:14223|MESH:D009794|SNOMEDCT:410042009
UBERON:0010744	sacral vertebra pre-cartilage condensation	biolink:AnatomicalEntity	mondo			sacral vertebral pre-cartilage condensation group	http://purl.obolibrary.org/obo/UBERON_0010744	A sacral vertebra endochondral element that is composed primarily of a pre-cartilage condensation.	
UBERON:0010745	sacral vertebra cartilage element	biolink:AnatomicalEntity	mondo			sacral vertebral cartilage condensation|sacral vertebral cartilage condensation group	http://purl.obolibrary.org/obo/UBERON_0010745	A sacral vertebra endochondral element that is composed primarily of cartilage tissue.	
UBERON:0009767	proximal interphalangeal joint	biolink:AnatomicalEntity	mondo			PIP joint|PIJ joint	http://purl.obolibrary.org/obo/UBERON_0009767	An inter-phalangeal joint that connects a proximal phalanx to either a medial or distal phalanx.	
UBERON:0009768	distal interphalangeal joint	biolink:AnatomicalEntity	mondo			DIP joint|DIJ joint	http://purl.obolibrary.org/obo/UBERON_0009768	An inter-phalangeal joint that connects a distal phalanx to either a medial or proximal phalanx.	
MONDO:0001909	renal tubular acidosis	biolink:Disease	mondo	UMLS:C0001126|GARD:0007552|MESH:D000141|SCTID:1776003|ICD9:588.89|ICD10:N25.89|DOID:14219	gard_rare		http://purl.obolibrary.org/obo/MONDO_0001909	A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets.	UMLS:C0001126|MESH:D000141|DOID:14219|NCIT:C28129|SNOMEDCT:1776003
UBERON:0010742	bone of pelvic complex	biolink:AnatomicalEntity	mondo			hindlimb bone	http://purl.obolibrary.org/obo/UBERON_0010742	A bone that is part of a pelvic complex. Examples: pubis, ischium, fot phalanx, any tarsal bone, any bone of the pelvic fin or girdle.	
MONDO:0001908	obsolete hypophosphatasia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001908		
UBERON:0007100	primary circulatory organ	biolink:AnatomicalEntity	mondo			adult heart|heart|dorsal tube	http://purl.obolibrary.org/obo/UBERON_0007100	A hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood or analogs[GO,modified].	
UBERON:0010743	meningeal cluster	biolink:AnatomicalEntity	mondo			cluster of meninges|cerebral meninges|meninges	http://purl.obolibrary.org/obo/UBERON_0010743	The collection of all meningeal layers that line a central nervous system.	
CHEBI:15379	dioxygen	biolink:ChemicalSubstance	mondo			O2|E 948|[OO]|molecular oxygen|dioxygene|Oxygen|Disauerstoff|dioxygen|E948|OXYGEN MOLECULE|E-948	http://purl.obolibrary.org/obo/CHEBI_15379		
CHEBI:6121	ketamine	biolink:ChemicalSubstance	mondo			2-(methylamino)-2-(2-chlorophenyl)cyclohexanone|2-(o-chlorophenyl)-2-(methylamino)-cyclohexanone|dl-ketamine|Ketamine|KETAMINE|DL-ketamine|2-(2-Chloro-phenyl)-2-methylamino-cyclohexanone|NMDA|ketamine|(+-)-ketamine|ketamina|special K|ketaminum|2-(2-chlorophenyl)-2-(methylamino)cyclohexanone	http://purl.obolibrary.org/obo/CHEBI_6121	A member of the class of cyclohexanones in which one of the hydrogens at position 2 is substituted by a 2-chlorophenyl group, while the other is substituted by a methylamino group.	
MONDO:0001903	calcific tendinitis	biolink:Disease	mondo	ICD10:M65.2|UMLS:C0521515|SCTID:95414005|ICD10:M75.3|DOID:14181|ICD9:726.11			http://purl.obolibrary.org/obo/MONDO_0001903		UMLS:C0521515|DOID:14181|SNOMEDCT:95414005
MONDO:0001902	congenital agammaglobulinemia	biolink:Disease	mondo	DOID:14177|ICD9:279.04|UMLS:C1457897		congenital hypogammaglobulinemia (finding)|congenital agammaglobulinemia|congenital hypogammaglobulinaemia	http://purl.obolibrary.org/obo/MONDO_0001902	An instance of agammaglobulinemia that is present from birth.	DOID:14177|UMLS:C1457897
CHEBI:15377	water	biolink:ChemicalSubstance	mondo			hydrogen hydroxide|agua|HOH|dihydridooxygen|[OH2]|aqua|water|WATER|Water|acqua|oxidane|eau|Wasser|dihydrogen oxide|H2O|BOUND WATER	http://purl.obolibrary.org/obo/CHEBI_15377	An oxygen hydride consisting of an oxygen atom that is covalently bonded to two hydrogen atoms.	
MONDO:0001901	selective IgG subclass deficiency	biolink:Disease	mondo	NCIT:C27024|MESH:D017099|DOID:14176|ICD9:279.03|SCTID:190981001|ICD10:D80.3		selective immunoglobulin G deficiency|selective IgG deficiency disease|selective IgG immunodeficiency|selective deficiency of IgG|selective Immunoglobulin G subclass deficiency|Immunoglobin G subclass deficiency	http://purl.obolibrary.org/obo/MONDO_0001901	A classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the four immunoglobulin class G (IgG) subclasses. Selective IgG1 deficiency is rare and primarily decreases the immune response to bacterial protein antigens. Selective IgG2 deficiency is the most common subclass deficiency among children and primarily leads to an inadequate response to bacterial polysaccharide antigens. Selective IgG3 deficiency is the most common subclass deficiency among adults and also primarily lowers the response to bacterial proteins. Selective IgG4 deficiency may be a clinically insignificant developmental variant, as IgG4 is a subclass that is virtually undetectable until the end of the first decade of life. Low levels of any IgG subclass will reduce the immune system's effectiveness and thus the clinical presentation of these diseases is usually recurrent infection, particularly by encapsulated bacteria.	DOID:14176|NCIT:C27024|MESH:D017099|SNOMEDCT:190981001
MONDO:0001900	obsolete central neurocytoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001900		
MONDO:0001907	adult dermatomyositis	biolink:Disease	mondo	DOID:14202|SCTID:402425006|NCIT:C27313		adult onset dermatomyositis|dermatomyositis of adults	http://purl.obolibrary.org/obo/MONDO_0001907	Dermatomyositis in an adult.	SNOMEDCT:402425006|DOID:14202|NCIT:C27313
UBERON:0007106	chorionic villus	biolink:AnatomicalEntity	mondo			fetal placenta|chorionic villous|placental villous|chorionic villi|fetal part of placenta|placental villi|villous chorion|embryonic placenta|placental villus|villous of placenta|chorionic villus|embryonic part of placenta	http://purl.obolibrary.org/obo/UBERON_0007106	One of the minute vascular projections of the fetal chorion that combines with maternal uterine tissue to form the placenta.	
MONDO:0001906	posterior dislocation of lens	biolink:Disease	mondo	UMLS:C0155373|DOID:14199|ICD9:379.34|SCTID:14169000|COHD:374363|ICD10:H27.13			http://purl.obolibrary.org/obo/MONDO_0001906		SNOMEDCT:14169000|DOID:14199|UMLS:C0155373
MONDO:0001905	bicipital tenosynovitis	biolink:Disease	mondo	UMLS:C0158304|ICD9:726.12|SCTID:41137001|DOID:14192|COHD:78237			http://purl.obolibrary.org/obo/MONDO_0001905		SNOMEDCT:41137001|UMLS:C0158304|DOID:14192
UBERON:0007105	vitelline duct	biolink:AnatomicalEntity	mondo			omphalomesenteric duct|yolk duct|embryonic yolk stalk|ductus vitellinus|yolk-stalk	http://purl.obolibrary.org/obo/UBERON_0007105	A long narrow tube that joins the yolk-sac to the midgut lumen of the developing fetus.	
CHEBI:15372	5,6,7,8-tetrahydrobiopterin	biolink:ChemicalSubstance	mondo			2-amino-6-(1,2-dihydroxypropyl)-5,6,7,8-tetrahydropteridin-4(3H)-one|Tetrahydrobiopterin|5,6,7,8-Tetrahydrobiopterin|BH4|5,6,7,8-tetrahydrobiopterin|5,6,7,8-TETRAHYDROBIOPTERIN|2-Amino-6-(1,2-dihydroxypropyl)-5,6,7,8-tetrahydoro-4(1H)-pteridinone	http://purl.obolibrary.org/obo/CHEBI_15372		
MONDO:0001904	polyneuropathy due to drug	biolink:Disease	mondo	ICD9:357.6|COHD:381551|DOID:14184|ICD10:G62.0|SCTID:7339009|UMLS:C0154762			http://purl.obolibrary.org/obo/MONDO_0001904		UMLS:C0154762|SNOMEDCT:7339009|DOID:14184
MONDO:0001961	obsolete glossopharyngeal neuralgia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001961		
MONDO:0001960	obsolete Alpers syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001960		
MONDO:0001965	sclerosing keratitis	biolink:Disease	mondo	ICD10:H16.33|DOID:14444|ICD9:370.54|UMLS:C0155090|SCTID:27886001		sclerokeratitis	http://purl.obolibrary.org/obo/MONDO_0001965		UMLS:C0155090|SNOMEDCT:27886001|DOID:14444
CHEBI:27314	water-soluble vitamin	biolink:ChemicalSubstance	mondo			wasserloesliche Vitamine|water-soluble vitamins	http://purl.obolibrary.org/obo/CHEBI_27314		
MONDO:0001964	chronic tubotympanic suppurative otitis media	biolink:Disease	mondo	ICD9:382.1|DOID:14435|ICD10:H66.10|SCTID:87665008|COHD:375290|ICD10:H66.1|UMLS:C0155440			http://purl.obolibrary.org/obo/MONDO_0001964	A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections.	SNOMEDCT:87665008|UMLS:C0155440|DOID:14435
MONDO:0001963	obsolete cerebral degeneration disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001963		
MONDO:0001962	abnormality of glucagon secretion	biolink:Disease	mondo	UMLS:C0154191|ICD9:251.4|DOID:14427|SCTID:11178005		glucagon secretion abnormality	http://purl.obolibrary.org/obo/MONDO_0001962		UMLS:C0154191|SNOMEDCT:11178005|DOID:14427
HP:0012700	Abnormal large intestine physiology	biolink:PhenotypicFeature	mondo	UMLS:C4022766			http://purl.obolibrary.org/obo/HP_0012700	A functional anomaly of the large intestine.	
MONDO:0013947	young adult-onset distal hereditary motor neuropathy	biolink:Disease	mondo	OMIM:614881|Orphanet:314485|UMLS:C3553989|ICD10:G12.2	ordo_disease	Young adult-onset dHMN|autosomal recessive distal spinal muscular atrophy type 5|spinal muscular atrophy, distal, autosomal recessive, 5; DSMA5|spinal muscular atrophy, distal, autosomal recessive, type 5|spinal muscular atrophy, distal, autosomal recessive, 5|dSMA5|DSMA5	http://purl.obolibrary.org/obo/MONDO_0013947	Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.	ORPHA:314485|UMLS:C3553989|http://identifiers.org/omim/614881
MONDO:0013948	peroxisome biogenesis disorder 10A (Zellweger)	biolink:Disease	mondo	DOID:0080484|OMIM:614882|UMLS:C3553999		peroxisome biogenesis disorder 10A (Zellweger); PBD10A|peroxisome biogenesis disorder, complementation group 12|peroxisome biogenesis disorder 10A (Zellweger)|peroxisome biogenesis disorder, complementation group G|PBD10A	http://purl.obolibrary.org/obo/MONDO_0013948		DOID:0080484|UMLS:C3553999|http://identifiers.org/omim/614882
HP:0000711	Restlessness	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:162221009|UMLS:C3887611		Restlessness	http://purl.obolibrary.org/obo/HP_0000711	A state of unease characterized by diffuse motor activity or motion subject to limited control, nonproductive or disorganized behavior, and subjective distress.	
UBERON:0007171	border of scapula	biolink:AnatomicalEntity	mondo			scapular border	http://purl.obolibrary.org/obo/UBERON_0007171		
MONDO:0013945	peroxisome biogenesis disorder 9B	biolink:Disease	mondo	UMLS:CN159238|OMIM:614879		Refsum disease, adult, 2|peroxisome biogenesis disorder, complementation group R|peroxisome biogenesis disorder 9B; PBD9B|PBD9B|peroxisome biogenesis disorder type 9B|peroxisome biogenesis disorder 9B|peroxisome biogenesis disorder, PEX7-related, atypical|peroxisome biogenesis disorder, complementation group 11	http://purl.obolibrary.org/obo/MONDO_0013945		http://identifiers.org/omim/614879|UMLS:CN159238
MONDO:0013946	hypogonadotropic hypogonadism 15 with or without anosmia	biolink:Disease	mondo	DOID:0090075|OMIM:614880|UMLS:C3553977|ICD10:23.0		hypogonadotropic hypogonadism 15 with or without anosmia|HS6ST1 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 15 with or without anosmia; HH15|HH15|hypogonadotropic hypogonadism caused by mutation in HS6ST1	http://purl.obolibrary.org/obo/MONDO_0013946	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the HS6ST1 gene.	DOID:0090075|UMLS:C3553977|http://identifiers.org/omim/614880
HP:0000713	Agitation	biolink:PhenotypicFeature	mondo	UMLS:C0085631|SNOMEDCT_US:24199005			http://purl.obolibrary.org/obo/HP_0000713	A state of exceeding restlessness and excessive motor activity associated with mental distress or a feeling of inner tension.	
GO:1904115	axon cytoplasm	biolink:OntologyClass	mondo			axoplasm	http://purl.obolibrary.org/obo/GO_1904115	Any cytoplasm that is part of a axon.	
MONDO:0013949	peroxisome biogenesis disorder 11A (Zellweger)	biolink:Disease	mondo	DOID:0080485|OMIM:614883|UMLS:C3554000		peroxisome biogenesis disorder 11A (Zellweger); PBD11A|peroxisome biogenesis disorder, complementation group 13|peroxisome biogenesis disorder 11A (Zellweger)|peroxisome biogenesis disorder, complementation group H|PBD11A	http://purl.obolibrary.org/obo/MONDO_0013949		DOID:0080485|UMLS:C3554000|http://identifiers.org/omim/614883
HP:0000717	Autism	biolink:PhenotypicFeature	mondo	UMLS:C0004352|SNOMEDCT_US:408857007|SNOMEDCT_US:408856003|SNOMEDCT_US:43614003|MSH:D001321		Autism	http://purl.obolibrary.org/obo/HP_0000717	Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).	
UBERON:0034710	spinal cord ventricular layer	biolink:AnatomicalEntity	mondo			spinal cord lateral wall ventricular layer	http://purl.obolibrary.org/obo/UBERON_0034710		
MONDO:0013950	peroxisome biogenesis disorder 11B	biolink:Disease	mondo	UMLS:C3554001|OMIM:614885		peroxisome biogenesis disorder type 11B|peroxisome biogenesis disorder 11B; PBD11B|PBD11B|peroxisome biogenesis disorder 11B	http://purl.obolibrary.org/obo/MONDO_0013950		http://identifiers.org/omim/614885|UMLS:C3554001
HGNC:5465	IGF1R	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5465		
MONDO:0013951	peroxisome biogenesis disorder 12A (Zellweger)	biolink:Disease	mondo	UMLS:C3554002|DOID:0080486|OMIM:614886		peroxisome biogenesis disorder, complementation group 14|peroxisome biogenesis disorder 12A (Zellweger); PBD12A|peroxisome biogenesis disorder, complementation group J|peroxisome biogenesis disorder 12A (Zellweger)|PBD12A|Cg14|Cgj	http://purl.obolibrary.org/obo/MONDO_0013951		http://identifiers.org/omim/614886|DOID:0080486|UMLS:C3554002
HGNC:5466	IGF2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5466		
HGNC:5467	IGF2R	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5467		
HGNC:5468	IGFALS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5468		
UBERON:0007177	lamina propria of mucosa of colon	biolink:AnatomicalEntity	mondo			colonic lamina propria|lamina propria of colonic mucosa|lamina propria mucosae of colon|lamina propria of colonic mucous membrane	http://purl.obolibrary.org/obo/UBERON_0007177	A lamina propria that is part of a colonic mucosa.	
MONDO:0013954	mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	biolink:Disease	mondo	OMIM:614890|Orphanet:319558|UMLS:C4013948|ICD10:D84.8	ordo_disease|predisposition	MSMD due to complete IL12B deficiency|immunodeficiency type 29|IL12B deficiency|immunodeficiency 29|MSMD due to complete interleukin 12B deficiency|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12B|IMD29|immunodeficiency 29; IMD29|Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency|IL12B autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency	http://purl.obolibrary.org/obo/MONDO_0013954	Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12B gene.	UMLS:C4013948|ORPHA:319558|http://identifiers.org/omim/614890
MONDO:0013955	mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	biolink:Disease	mondo	OMIM:614891|GARD:0010984|UMLS:C4013949|ICD10:D84.8|Orphanet:319552	predisposition|ordo_disease	IMD30|Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency|IL12RB1 deficiency|MSMD due to complete interleukin 12 receptor beta 1 deficiency|IL-12Râ1 deficiency|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12RB1|MSMD due to complete IL12RB1 deficiency|Mendelian susceptibility to mycobacterial infections due to IL12 deficiency|immunodeficiency type 30|immunodeficiency 30; IMD30|IL12RB1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency|immunodeficiency 30	http://purl.obolibrary.org/obo/MONDO_0013955	Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12RB1 gene.	UMLS:C4013949|ORPHA:319552|http://identifiers.org/omim/614891
UBERON:0034705	developing neuroepithelium	biolink:AnatomicalEntity	mondo			embryonic neuroepithelium|neuroepithelium|neurepithelium	http://purl.obolibrary.org/obo/UBERON_0034705	An embryonic or larval epithelium that is committed to form part of the nervous system.	
UBERON:0007174	medial border of scapula	biolink:AnatomicalEntity	mondo			vertebral border of the scapula|margo medialis scapulae|medial border of the scapula|vertebral border|medial margin of the scapula|medial part of scapula|vertebral border of scapula|margo medialis (scapula)	http://purl.obolibrary.org/obo/UBERON_0007174	The medial border of the scapula (vertebral border, medial margin) is the longest of the three borders, and extends from the medial to the inferior angle. It is arched, intermediate in thickness between the superior and the axillary borders, and the portion of it above the spine forms an obtuse angle with the part below. This border presents an anterior and a posterior lip, and an intermediate narrow area. The anterior lip affords attachment to the Serratus anterior; the posterior lip, to the Supraspinatus above the spine, the Infraspinatus below; the area between the two lips, to the Levator scapulC& above the triangular surface at the commencement of the spine, to the Rhomboideus minor on the edge of that surface, and to the Rhomboideus major below it; this last is attached by means of a fibrous arch, connected above to the lower part of the triangular surface at the base of the spine, and below to the lower part of the border.	
UBERON:0034706	proliferating neuroepithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0034706	An epithelium that is undergoing proliferation to provide large numbers of neuronal cells.	
MONDO:0013952	peroxisome biogenesis disorder 13A (Zellweger)	biolink:Disease	mondo	UMLS:C3554004|MESH:C566624|DOID:0080487|OMIM:614887		peroxisome biogenesis disorder 13A (Zellweger); PBD13A|peroxisome biogenesis disorder, complementation group K|PBD13A|peroxisome biogenesis disorder 13A (Zellweger)	http://purl.obolibrary.org/obo/MONDO_0013952		http://identifiers.org/omim/614887|DOID:0080487|MESH:C566624|UMLS:C3554004
UBERON:0034707	differentiating neuroepithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0034707	A neuroepithelium some of whose cells are undergoing terminal differentiation to become neuronal cells.	
MONDO:0013953	immunodeficiency 28	biolink:Disease	mondo	UMLS:C4013947|OMIM:614889		Ifngr2 deficiency|IFNGR2 primary immunodeficiency disease|immunodeficiency 28; IMD28|immunodeficiency 28|immunodeficiency 28, Mycobacteriosis|immunodeficiency type 28|IMD28|primary immunodeficiency disease caused by mutation in IFNGR2	http://purl.obolibrary.org/obo/MONDO_0013953	Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IFNGR2 gene.	UMLS:C4013947|http://identifiers.org/omim/614889
MONDO:0001958	obsolete autosomal dominant cerebellar ataxia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001958		
UBERON:0034708	cerebellum marginal layer	biolink:AnatomicalEntity	mondo			marginal zone of cerebellum|MZCB	http://purl.obolibrary.org/obo/UBERON_0034708		
MONDO:0001957	critical illness polyneuropathy	biolink:Disease	mondo	ICD10:G62.81|COHD:374032|DOID:14402|UMLS:C0393851|ICD9:357.82|SCTID:230594005			http://purl.obolibrary.org/obo/MONDO_0001957		DOID:14402|UMLS:C0393851|SNOMEDCT:230594005
UBERON:0034709	hindbrain marginal layer	biolink:AnatomicalEntity	mondo			MZH|marginal zone of hindbrain	http://purl.obolibrary.org/obo/UBERON_0034709		
MONDO:0001956	capillary leak syndrome	biolink:Disease	mondo	SCTID:87730004|MESH:D019559|GARD:0001084|ICD10:I78.8|NCIT:C62578|Orphanet:188|MedDRA:10007196|DOID:14400|UMLS:C0343084|ICD9:448.9	ordo_disease	Clarkson disease|capillary leak syndrome with monoclonal gammopathy|SCLS|acute vascular leak syndrome|periodic systemic capillary leak syndrome|systemic capillary leak syndrome|AVLS|CLS|capillary leak syndrome|idiopathic capillary leak syndrome|capillary hyperpermeability syndrome	http://purl.obolibrary.org/obo/MONDO_0001956	A syndrome characterized by leakage of intravascular fluids into the extravascular space. This syndrome is observed in patients who demonstrate a state of generalized leaky capillaries following shock syndromes, low-flow states, ischemia-reperfusion injuries, toxemias, medications, or poisoning. It can lead to generalized edema and multiple organ failure.	DOID:14400|NCIT:C62578|MESH:D019559|SNOMEDCT:87730004|MEDDRA:10007196|ORPHA:188|UMLS:C0343084
MONDO:0001955	protozoal dysentery	biolink:Disease	mondo	ICD9:007.8|ICD10:A07.8|ICD10:B50.B64|DOID:14397			http://purl.obolibrary.org/obo/MONDO_0001955	A dysentery that involves protozoan infection.	DOID:14397
HGNC:5461	IGBP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5461		
MONDO:0001959	labyrinthine bilateral reactive loss	biolink:Disease	mondo	ICD9:386.56|DOID:14413|SCTID:194377001|UMLS:C0155520		bilateral loss of labyrinthine reactivity|loss of labyrinthine reactivity, bilateral	http://purl.obolibrary.org/obo/MONDO_0001959		DOID:14413|UMLS:C0155520|SNOMEDCT:194377001
HGNC:5464	IGF1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5464		
MONDO:0001972	Brucella melitensis brucellosis	biolink:Disease	mondo	UMLS:C0302362|DOID:14456|ICD10:A23.0|SCTID:427999003|ICD9:023.0			http://purl.obolibrary.org/obo/MONDO_0001972	A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has symptom fever, has symptom malaise, has symptom anorexia, has symptom limb pain and has symptom back pain.	UMLS:C0302362|DOID:14456|SNOMEDCT:427999003
MONDO:0001971	farmer's lung disease	biolink:Disease	mondo	COHD:435298|ICD10:J67.0|Orphanet:99906|NCIT:C34605|DOID:14453|ICD9:495.0|GARD:0006427|UMLS:C0015634|SCTID:18690003|MedDRA:10016221	gard_rare|ordo_disease	Farmers lung|farmer lung|farmer's lung	http://purl.obolibrary.org/obo/MONDO_0001971	Hypersensitivity pneumonitis caused by the repeated exposure and inhalation of biological dust (such as hay dust, mold spores, or other agricultural products). It is considered a type II hypersensitivity inflammatory reaction. In the acute phase, signs and symptoms include fever, chills, cough, dyspnea, headache, and chest tightness. The subacute phase manifests as chronic cough, dyspnea, anorexia, and weight loss. The chronic phase results from the prolonged exposure to the antigen and is characterized by severe dyspnea and irreversible damage to the lungs.	MESH:D005203|UMLS:C0015634|SNOMEDCT:18690003|ORPHA:99906|NCIT:C34605|DOID:14453|MEDDRA:10016221
MONDO:0001970	obsolete hypokalemic periodic paralysis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001970		
MONDO:0001976	chorea gravidarum	biolink:Disease	mondo	SCTID:25113000|MESH:D020150|EFO:1001290|ICD9:646.80|UMLS:C0264746|DOID:14483			http://purl.obolibrary.org/obo/MONDO_0001976	A rare movement disorder developed during pregnancy, characterized by involuntary jerky motion (chorea) and inability to maintain stable position of body parts (athetosis). rheumatic fever and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9)	UMLS:C0264746|SNOMEDCT:25113000|MESH:D020150|DOID:14483
CHEBI:29987	glutamate(2-)	biolink:ChemicalSubstance	mondo			2-aminopentanedioate|glutamate|glutamate(2-)|glutamic acid dianion	http://purl.obolibrary.org/obo/CHEBI_29987	A dicarboxylic acid dianion that is the conjugate base of glutamate(1-).	
UBERON:0019143	intramuscular adipose tissue	biolink:AnatomicalEntity	mondo			intramuscular fat	http://purl.obolibrary.org/obo/UBERON_0019143	Adipose tissue which is located throughout skeletal muscle and is responsible for the marbling seen in certain cuts of beef. In humans, excess accumulation of intramuscular fat is associated with insulin resistance and type 2 diabetes.	
CHEBI:29986	D-glutamate(1-)	biolink:ChemicalSubstance	mondo			(2R)-2-ammoniopentanedioate|D-glutamate(1-)|D-glutamic acid monoanion|hydrogen D-glutamate|D-glutamate	http://purl.obolibrary.org/obo/CHEBI_29986	An alpha-amino-acid anion that is the conjugate base of D-glutamic acid, having anionic carboxy groups and a cationic amino group	
MONDO:0001975	cavernous hemangioma of orbit	biolink:Disease	mondo	DOID:14463|ICD9:228.09|SCTID:254998002|NCIT:C4546|UMLS:C0346352		orbit cavernous hemangioma|cavernous hemangioma of the orbit|orbit cavernous angioma|cavernous angioma of orbit|cavernous angioma of the orbit	http://purl.obolibrary.org/obo/MONDO_0001975	A cavernous hemangioma arising from the orbit.	NCIT:C4546|UMLS:C0346352|SNOMEDCT:254998002|DOID:14463
MONDO:0001974	hemangioma of orbit	biolink:Disease	mondo	DOID:14459|ICD9:228.09|UMLS:C1335128|SCTID:121951000119101|NCIT:C6245		hemangioma of the orbit|orbit angioma|angioma of orbit|orbit hemangioma|angioma of the orbit	http://purl.obolibrary.org/obo/MONDO_0001974	A hemangioma arising from the orbit.	NCIT:C6245|UMLS:C1335128|SNOMEDCT:121951000119101|DOID:14459
CHEBI:29989	D-glutamate(2-)	biolink:ChemicalSubstance	mondo			D-glutamate(2-)|(2R)-2-aminopentanedioate|D-glutamic acid dianion|D-glutamate	http://purl.obolibrary.org/obo/CHEBI_29989		
MONDO:0001973	Brucella abortus brucellosis	biolink:Disease	mondo	ICD9:023.1|DOID:14457|ICD10:A23.1|SCTID:427795000			http://purl.obolibrary.org/obo/MONDO_0001973	A bacterial infection caused by Brucella abortus that spreads from cattle to humans. Brucella abortus can cause of range of signs and symptoms including fever, chills, sweats, weight loss, malaise, headaches, myalgia, and arthralgia.	SNOMEDCT:427795000|DOID:14457
CHEBI:29988	L-glutamate(2-)	biolink:ChemicalSubstance	mondo			L-glutamic acid dianion|L-glutamate|(2S)-2-aminopentanedioate|L-glutamate(2-)	http://purl.obolibrary.org/obo/CHEBI_29988	An L-alpha-amino acid anion that is the dianion obtained by the deprotonation of the both the carboxy groups of L-glutamic acid.	
MONDO:0013936	peroxisome biogenesis disorder 6A (Zellweger)	biolink:Disease	mondo	MESH:C566422|NCIT:C155758|DOID:0080481|OMIM:614870|UMLS:C3553947		peroxisome biogenesis disorder, complementation group B|PBD6A|peroxisome biogenesis disorder 6A (Zellweger); PBD6A|peroxisome biogenesis disorder, complementation group 7|peroxisome biogenesis disorder 6A (Zellweger)	http://purl.obolibrary.org/obo/MONDO_0013936		DOID:0080481|MESH:C566422|NCIT:C155758|UMLS:C3553947|http://identifiers.org/omim/614870
MONDO:0013937	peroxisome biogenesis disorder 6B	biolink:Disease	mondo	NCIT:C155759|OMIM:614871|UMLS:C3553948		peroxisome biogenesis disorder 6B|peroxisome biogenesis disorder type 6B|PBD6B|peroxisome biogenesis disorder 6B; PBD6B	http://purl.obolibrary.org/obo/MONDO_0013937		NCIT:C155759|UMLS:C3553948|http://identifiers.org/omim/614871
UBERON:0007160	inferior petrosal sinus	biolink:AnatomicalEntity	mondo			sinus petrosal inferior	http://purl.obolibrary.org/obo/UBERON_0007160	The inferior petrosal sinus, within the human head, is an area beneath the brain, which allows blood veins to span the area, from the center of the head downward. It drains from the cavernous sinus (beneath the brain) to the sigmoid sinuses above the internal jugular vein.	
CHEBI:29985	L-glutamate(1-)	biolink:ChemicalSubstance	mondo			hydrogen L-glutamate|L-glutamate|L-glutamate(1-)|L-glutamic acid monoanion|(2S)-2-ammoniopentanedioate|L-glutamic acid, ion(1-)	http://purl.obolibrary.org/obo/CHEBI_29985	An alpha-amino-acid anion that is the conjugate base of L-glutamic acid, having anionic carboxy groups and a cationic amino group	
MONDO:0013934	combined immunodeficiency due to STK4 deficiency	biolink:Disease	mondo	UMLS:C3553943|ICD10:D81.8|OMIM:614868|Orphanet:314689	ordo_disease	TIIAC|T-cell immunodeficiency, recurrent infections, and autoimmunity with or without CARDIAC malformations; TIIAC|Mst1 deficiency|T-cell immunodeficiency, recurrent infections, and autoimmunity with or without CARDIAC malformations|Cid due to STK4 deficiency|STK4 deficiency	http://purl.obolibrary.org/obo/MONDO_0013934	Combined immunodeficiency due to STK4 deficiency is a rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).	ORPHA:314689|UMLS:C3553943|http://identifiers.org/omim/614868
MONDO:0013935	Usher syndrome type 1J	biolink:Disease	mondo	DOID:0110836|UMLS:C3553944|OMIM:614869|ICD10:H35.5		USH1J|CIB2 Usher syndrome|Usher syndrome type Ij|USHER syndrome, type Ij; USH1J|USHER syndrome, type Ij|Usher syndrome, type 1J|Usher syndrome caused by mutation in CIB2	http://purl.obolibrary.org/obo/MONDO_0013935	Any Usher syndrome in which the cause of the disease is a mutation in the CIB2 gene.	DOID:0110836|UMLS:C3553944|http://identifiers.org/omim/614869
HP:0000726	Dementia	biolink:PhenotypicFeature	mondo	MSH:D003704|SNOMEDCT_US:52448006|UMLS:C0497327		Dementia, progressive|Progressive dementia|Dementia	http://purl.obolibrary.org/obo/HP_0000726	A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.	
HP:0000729	Autistic behavior	biolink:PhenotypicFeature	mondo	MSH:D000067877|UMLS:C1510586|UMLS:C0856975		ASD|Pervasive developmental disorder|Autism spectrum disorder|Autistic behaviour|Autistic behaviors|Autism spectrum disorders	http://purl.obolibrary.org/obo/HP_0000729	Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.	
MONDO:0013938	peroxisome biogenesis disorder 7A (Zellweger)	biolink:Disease	mondo	UMLS:C3888385|OMIM:614872|DOID:0080482		peroxisome biogenesis disorder 7A (Zellweger)|PBD7A|peroxisome biogenesis disorder, complementation group A|peroxisome biogenesis disorder 7A (Zellweger); PBD7A|peroxisome biogenesis disorder, complementation group 8	http://purl.obolibrary.org/obo/MONDO_0013938		DOID:0080482|UMLS:C3888385|http://identifiers.org/omim/614872
UBERON:0034720	head taste bud	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0034720	A taste bud that is located on the skin of the head.	
MONDO:0013939	peroxisome biogenesis disorder 7B	biolink:Disease	mondo	UMLS:C3553951|OMIM:614873		PBD7B|peroxisome biogenesis disorder 7B; PBD7B|peroxisome biogenesis disorder 7B|peroxisome biogenesis disorder type 7B	http://purl.obolibrary.org/obo/MONDO_0013939		http://identifiers.org/omim/614873|UMLS:C3553951
UBERON:0034721	pharyngeal taste bud	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0034721	A taste bud that is located in the pharynx.	
UBERON:0034711	cortical preplate	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0034711	The layer of the developing cerebral cortex that is formed from the first cohort of neurons to migrate out of the cortical ventricular zone; split by the second wave into marginal zone and subplate.	
HGNC:5476	IGFBP7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5476		
MONDO:0013940	primary ciliary dyskinesia 18	biolink:Disease	mondo	ICD10:Q34.8|OMIM:614874|UMLS:C3543825|DOID:0110604		CILD18|ciliary dyskinesia, primary, 18; CILD18|ciliary dyskinesia, primary, 18|primary ciliary dyskinesia 18 with or without situs inversus|ciliary dyskinesia, primary, 18, with or without situs inversus|primary ciliary dyskinesia type 18|DNAAF5 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 18|primary ciliary dyskinesia caused by mutation in DNAAF5	http://purl.obolibrary.org/obo/MONDO_0013940	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF5 gene.	DOID:0110604|http://identifiers.org/omim/614874|UMLS:C3543825
UBERON:0034713	cranial neuron projection bundle	biolink:AnatomicalEntity	mondo			neuron projection bundle from brain|cranial nerve or tract|cranial nerve fiber bundle|cranial nerve fiber tract	http://purl.obolibrary.org/obo/UBERON_0034713	Any of the cranial nerves, or their central nervous system analogs (the optic tract, the epiphyseal tract). These analogs are not true nerves, and are instead evaginated sensory afferents emanating from the brain	
UBERON:0034714	epiphyseal tract	biolink:AnatomicalEntity	mondo			epiphyseal nerve	http://purl.obolibrary.org/obo/UBERON_0034714	A cranial nerve fiber tract that innervates the parietal eye.	
MONDO:0013943	peroxisome biogenesis disorder 8B	biolink:Disease	mondo	UMLS:C3553960|OMIM:614877		peroxisome biogenesis disorder 8B; PBD8B|peroxisome biogenesis disorder type 8B|peroxisome biogenesis disorder 8B|PBD8B	http://purl.obolibrary.org/obo/MONDO_0013943		UMLS:C3553960|http://identifiers.org/omim/614877
UBERON:0034715	pineal tract	biolink:AnatomicalEntity	mondo			pineal nerve	http://purl.obolibrary.org/obo/UBERON_0034715	A cranial nerve fiber tract that innervates the pineal body.	
MONDO:0013944	autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	biolink:Disease	mondo	UMLS:C3553961|OMIM:614878|Orphanet:324530	ordo_disease	AUTOINFLAMMATION, antibody deficiency, and immune dysregulation, PLCG2-associated|AUTOINFLAMMATION, antibody deficiency, and immune dysregulation, PLCG2-associated; APLAID|APLAID	http://purl.obolibrary.org/obo/MONDO_0013944		UMLS:C3553961|ORPHA:324530|http://identifiers.org/omim/614878
UBERON:0034717	integumental taste bud	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0034717	A taste bud that is located external to the digestive tube, on the head or body, as found in species such as goldfish.	
MONDO:0013941	metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria	biolink:Disease	mondo	Orphanet:99646|UMLS:C3553958|OMIM:614875	ordo_disease	metaphyseal enchondromatosis with D-2-hydroxyglutaric aciduria|metaphyseal Enchondrodysplasia with 2-hydroxyglutaric aciduria|spondyloenchondromatosis with D-2-hydroxyglutaric aciduria|metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria	http://purl.obolibrary.org/obo/MONDO_0013941	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.	UMLS:C3553958|http://identifiers.org/omim/614875|ORPHA:99646
MONDO:0013942	peroxisome biogenesis disorder 8A (Zellweger)	biolink:Disease	mondo	DOID:0080483|UMLS:C3553959|OMIM:614876		peroxisome biogenesis disorder 8A (Zellweger)|peroxisome biogenesis disorder, complementation group D|peroxisome biogenesis disorder 8A (Zellweger); PBD8A|peroxisome biogenesis disorder, complementation group 9|PBD8A	http://purl.obolibrary.org/obo/MONDO_0013942		UMLS:C3553959|http://identifiers.org/omim/614876|DOID:0080483
MONDO:0001969	mixed gonadal dysgenesis	biolink:Disease	mondo	UMLS:C0018055|DOID:14449|MESH:D006060|GARD:0002539|SCTID:83579008	gard_rare	gonadal dysgenesis mixed	http://purl.obolibrary.org/obo/MONDO_0001969	A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,xx; 45,X/46,xx/47,xxx; 46,xxp-; 45,X/46,xy; 45,X/47,xyy; 46,xypi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,xx or 46,xy constitution.	DOID:14449|MESH:D006060|UMLS:C0018055|SNOMEDCT:83579008
UBERON:0034719	lip taste bud	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0034719	A taste bud that is located on a lip.	
MONDO:0001968	obsolete 46 XY gonadal dysgenesis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001968		
MONDO:0001967	gonadal dysgenesis	biolink:Disease	mondo	COHD:201951|MESH:D006059|ICD9:758.6|SCTID:205681004|DOID:14447|GARD:0002538|NCIT:C61420	gard_rare	gonadal dysgenesis syndrome	http://purl.obolibrary.org/obo/MONDO_0001967	A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics.	DOID:14447|MESH:D006059|NCIT:C61420|SNOMEDCT:205681004
MONDO:0001966	chronic closed-angle glaucoma	biolink:Disease	mondo	ICD10:H40.22|COHD:432312|UMLS:C0154947|DOID:14445|SCTID:33647009|ICD9:365.23		angle-closure glaucoma, chronic|chronic angle-closure glaucoma|chronic narrow angle glaucoma|anatomical narrow angle glaucoma	http://purl.obolibrary.org/obo/MONDO_0001966	Chronic form of angle-closure glaucoma.	DOID:14445|UMLS:C0154947|SNOMEDCT:33647009
MONDO:0001943	Plasmodium malariae malaria	biolink:Disease	mondo	ICD10:B52.9|ICD9:084.2|DOID:14324|UMLS:C0024536|ICD10:B52|NCIT:C34799|SCTID:27618009		malaria by Plasmodium malariae|quartan malaria	http://purl.obolibrary.org/obo/MONDO_0001943	Malaria resulting from infection by Plasmodium malariae.	DOID:14324|NCIT:C34799|UMLS:C0024536|SNOMEDCT:27618009
MONDO:0001942	generalized anxiety disorder	biolink:Disease	mondo	SCTID:21897009|EFO:1001892|COHD:434613|ICD10:F41.1|NCIT:C92622|ICD9:300.02|DOID:14320		GAD	http://purl.obolibrary.org/obo/MONDO_0001942	An anxiety disorder characterized by excessive and difficult-to-control worry about a number of life situations. The worry is accompanied by restlessness, fatigue, inability to concentrate, irritability, muscle tension, and/or sleep disturbance and lasts for at least 6 months.	DOID:14320|NCIT:C92622|SNOMEDCT:21897009
MONDO:0001941	blindness (disorder)	biolink:Disease	mondo	ICD10:H54|DOID:1432|NCIT:C97109|ICD9:369|MESH:D001766|SCTID:105597003		vision impairment|visual impairment|vision loss|blindness	http://purl.obolibrary.org/obo/MONDO_0001941	The lack of vision. It is caused by neurological or physiological factors.	NCIT:C97109|SNOMEDCT:105597003|DOID:1432|MESH:D001766
MONDO:0001940	pleuropneumonia	biolink:Disease	mondo	DOID:14319|SCTID:60485005|UMLS:C0032241|MESH:D011001			http://purl.obolibrary.org/obo/MONDO_0001940	Inflammation of the lung parenchyma that is associated with pleurisy, inflammation of the pleura.	DOID:14319|SNOMEDCT:60485005|MESH:D011001|UMLS:C0032241
MONDO:0013925	methylmalonic acidemia with homocystinuria, type cblJ	biolink:Disease	mondo	ICD10:E71.1|UMLS:C3553915|GARD:0012621|OMIM:614857|Orphanet:369955	gard_rare|ordo_clinical_subtype	methylmalonic aciduria and homocystinuria, cblJ type; MAHCJ|cobalamin J defect|methylmalonic aciduria and homocystinuria, cblJ type|cblJ defects|methylmalonic acidemia with homocystinuria type cblJ|methylmalonic aciduria with homocystinuria, type cblJ|MAHCJ|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ	http://purl.obolibrary.org/obo/MONDO_0013925		http://identifiers.org/omim/614857|ORPHA:369955|UMLS:C3553915
MONDO:0013926	hypogonadotropic hypogonadism 14 with or without anosmia	biolink:Disease	mondo	UMLS:C3540450|DOID:0090087|ICD10:E23.0|OMIM:614858		hypogonadotropic hypogonadism 14 with or without anosmia|HH14|hypogonadotropic hypogonadism 14 with or without anosmia; HH14|WDR11 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism caused by mutation in WDR11	http://purl.obolibrary.org/obo/MONDO_0013926	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the WDR11 gene.	http://identifiers.org/omim/614858|DOID:0090087|UMLS:C3540450
MONDO:0013923	microcephaly 9, primary, autosomal recessive	biolink:Disease	mondo	UMLS:C3553886|OMIM:614852|DOID:0070292		MCPH9|microcephaly 9, primary, autosomal recessive|autosomal recessive primary microcephaly caused by mutation in CEP152|CEP152 autosomal recessive primary microcephaly|microcephaly 9, primary, autosomal recessive; MCPH9	http://purl.obolibrary.org/obo/MONDO_0013923	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP152 gene.	UMLS:C3553886|DOID:0070292|http://identifiers.org/omim/614852
MONDO:0013924	osteogenesis imperfecta type 13	biolink:Disease	mondo	ICD10:Q78.0|OMIM:614856|UMLS:C3553887|DOID:0110342		BMP1 osteogenesis imperfecta|osteogenesis imperfecta, type 13|osteogenesis imperfecta, type XIII; OI13|OI, type 13|OI13|osteogenesis imperfecta caused by mutation in BMP1|osteogenesis imperfecta, type XIII|osteogenesis imperfecta type XIII	http://purl.obolibrary.org/obo/MONDO_0013924	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the BMP1 gene.	DOID:0110342|UMLS:C3553887|http://identifiers.org/omim/614856
MONDO:0013929	autosomal recessive nonsyndromic deafness 98	biolink:Disease	mondo	UMLS:C3553932|ICD10:H90.3|OMIM:614861|DOID:0110540	clingen	deafness, autosomal recessive 98; DFNB98|deafness, autosomal recessive 98|autosomal recessive nonsyndromic deafness caused by mutation in TSPEAR|DFNB98|autosomal recessive nonsyndromic deafness type 98|TSPEAR autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 98|autosomal recessive deafness 98	http://purl.obolibrary.org/obo/MONDO_0013929	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TSPEAR gene.	http://identifiers.org/omim/614861|DOID:0110540|UMLS:C3553932
UBERON:0034730	olfactory tract linking bulb to ipsilateral dorsal telencephalon	biolink:AnatomicalEntity	mondo			lateral olfactory tract|tractus olfactorius lateralis	http://purl.obolibrary.org/obo/UBERON_0034730		
MONDO:0013927	peroxisome biogenesis disorder 3A (Zellweger)	biolink:Disease	mondo	OMIM:614859|UMLS:C3553929|DOID:0080478|MESH:C566633|NCIT:C155752		peroxisome biogenesis disorder 3A (Zellweger); PBD3A|peroxisome biogenesis disorder 3A (Zellweger)|PBD3A|peroxisome biogenesis disorder, complementation group 3	http://purl.obolibrary.org/obo/MONDO_0013927		http://identifiers.org/omim/614859|DOID:0080478|MESH:C566633|NCIT:C155752|UMLS:C3553929
MONDO:0013928	dystonia 23	biolink:Disease	mondo	UMLS:C3538999|OMIM:614860|Orphanet:420492|DOID:0090051|ICD10:G24.8	ordo_disease	dystonia 23; DYT23|dystonic disorder caused by mutation in CACNA1B|dystonia 23|adult-onset cervical dystonia, DYT23 type|DYT23|dystonia type 23|CACNA1B dystonic disorder	http://purl.obolibrary.org/obo/MONDO_0013928	Any dystonic disorder in which the cause of the disease is a mutation in the CACNA1B gene.	http://identifiers.org/omim/614860|DOID:0090051|UMLS:C3538999|ORPHA:420492
UBERON:0007158	lumen of anal canal	biolink:AnatomicalEntity	mondo			anal canal lumen	http://purl.obolibrary.org/obo/UBERON_0007158	An anatomical cavity that surrounded_by a anal canal.	
UBERON:0034722	mouth roof taste bud	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0034722	A taste bud that is located on the roof of the mouth.	
UBERON:0034723	fin taste bud	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0034723	A taste bud that is located on a fin.	
UBERON:0034724	esophageal taste bud	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0034724	A taste bud that is located in the esophagus.	
MONDO:0013932	peroxisome biogenesis disorder 5A (Zellweger)	biolink:Disease	mondo	UMLS:C3553940|NCIT:C155756|DOID:0080480|OMIM:614866		peroxisome biogenesis disorder 5A (Zellweger)|peroxisome biogenesis disorder, complementation group F|peroxisome biogenesis disorder, complementation group 5|PBD5A|peroxisome biogenesis disorder 5A (Zellweger); PBD5A|peroxisome biogenesis disorder, complementation group 10	http://purl.obolibrary.org/obo/MONDO_0013932		NCIT:C155756|UMLS:C3553940|http://identifiers.org/omim/614866|DOID:0080480
UBERON:0034726	trunk taste bud	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0034726	A taste bud that is located on the skin of the trunk.	
MONDO:0013933	peroxisome biogenesis disorder 5B	biolink:Disease	mondo	NCIT:C155757|UMLS:C3542026|OMIM:614867		peroxisome biogenesis disorder type 5B|peroxisome biogenesis disorder 5B|peroxisome biogenesis disorder 5B; PBD5B|PBD5B	http://purl.obolibrary.org/obo/MONDO_0013933		UMLS:C3542026|NCIT:C155757|http://identifiers.org/omim/614867
MONDO:0013930	peroxisome biogenesis disorder 4A (Zellweger)	biolink:Disease	mondo	OMIM:614862|NCIT:C155754|UMLS:C3553936|DOID:0080479|MESH:C563301		peroxisome biogenesis disorder 4A (Zellweger); PBD4A|peroxisome biogenesis disorder 4A (Zellweger)|PBD4A|peroxisome biogenesis disorder, complementation group 6|peroxisome biogenesis disorder, complementation group 4|peroxisome biogenesis disorder, complementation group C	http://purl.obolibrary.org/obo/MONDO_0013930		MESH:C563301|NCIT:C155754|UMLS:C3553936|http://identifiers.org/omim/614862|DOID:0080479
UBERON:0034728	autonomic nerve	biolink:AnatomicalEntity	mondo			visceral nerve|nervus visceralis	http://purl.obolibrary.org/obo/UBERON_0034728	The autonomic nerve is a small nerve which carries postganglionic sympathetic and parasympathetic neurons from the zygomaticotemporal nerve; a branch of the maxillary nerve, to the lacrimal nerve; a branch of the ophthalmic nerve. These neurons derive from the superior cervical ganglion and the pterygopalatine ganglion respectively. They will travel to the lacrimal gland via the lacrimal nerve. Parasympathetic will induce lacrimation and vice versa.	
MONDO:0013931	peroxisome biogenesis disorder 4B	biolink:Disease	mondo	OMIM:614863|NCIT:C155755|UMLS:C3553937		peroxisome biogenesis disorder type 4B|peroxisome biogenesis disorder 4B|peroxisome biogenesis disorder 4B; PBD4B|PBD4B	http://purl.obolibrary.org/obo/MONDO_0013931		NCIT:C155755|UMLS:C3553937|http://identifiers.org/omim/614863
UBERON:0007151	mitral valve leaflet	biolink:AnatomicalEntity	mondo			mitral valve leaflet|mitral valve leaflets|leaflet of mitral valve|mitral valvular leaflet	http://purl.obolibrary.org/obo/UBERON_0007151	A valve leafleft that is part of a mitral valve.	
UBERON:0034729	sympathetic nerve	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0034729		
MONDO:0001936	brawny scleritis	biolink:Disease	mondo	DOID:14287|UMLS:C0155356|ICD10:H15.02|SCTID:91612009|ICD9:379.06			http://purl.obolibrary.org/obo/MONDO_0001936		SNOMEDCT:91612009|DOID:14287|UMLS:C0155356
MONDO:0001935	neurogenic arthropathy	biolink:Disease	mondo	DOID:14286|COHD:74723|SCTID:359554008|EFO:1001378|ICD10:M14.6|ICD9:713.5|MESH:D001177|UMLS:C0003892		neuropathic arthropathy (& Charcot's)|Charcot's joint|Charcot's arthropathy|arthropathy associated with neurological disorder|neuropathic arthropathy	http://purl.obolibrary.org/obo/MONDO_0001935	Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly tabes dorsalis, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)	UMLS:C0003892|MESH:D001177|DOID:14286|SNOMEDCT:359554008
MONDO:0001934	obsolete primary hypertrophic osteoarthropathy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001934		
MONDO:0001933	endocrine pancreas disease	biolink:Disease	mondo	ICD10:E16|NCIT:C27067|UMLS:C0271633|ICD9:251|DOID:1428|SCTID:17346000		disease of endocrine pancreas|endocrine pancreas disorder|disease or disorder of endocrine pancreas|endocrine pancreas disease|disorder of endocrine pancreas|disorder of pancreatic islets|disorder of islets of langerhans|endocrine pancreas disease or disorder|disorder of endocrine pancreas	http://purl.obolibrary.org/obo/MONDO_0001933	A disease involving the endocrine pancreas.	UMLS:C0271633|NCIT:C27067|DOID:1428|SNOMEDCT:17346000
MONDO:0001939	skin epithelioid hemangioma	biolink:Disease	mondo	EFO:1001424|SCTID:400131007|DOID:14308|NCIT:C7393|UMLS:C0002989		zone of skin histiocytoid hemangioma|epithelioid hemangioma of skin|epithelioid hemangioma of the skin|skin epithelioid hemangioma|angiolymphoid hyperplasia of skin|angiolymphoid hyperplasia of the skin|histiocytoid hemangioma of zone of skin|angiolymphoid cutaneous hyperplasia|histiocytoid hemangioma of skin|histiocytoid hemangioma of the skin	http://purl.obolibrary.org/obo/MONDO_0001939	A hemangioma arising from the skin. It is characterized by the presence of epithelioid endothelial cells.	UMLS:C0002989|DOID:14308|SNOMEDCT:400131007|NCIT:C7393
NCBITaxon:232795	Dicistroviridae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_232795		
MONDO:0001938	vulvar dystrophy	biolink:Disease	mondo	ICD9:624.09|ICD9:624.0|COHD:436480|UMLS:C0013426|SCTID:51689003|DOID:14292|ICD10:N90.4|NCIT:C34565		dystrophy of vulva	http://purl.obolibrary.org/obo/MONDO_0001938	A non-neoplastic lesion that affects the vulva and is characterized by thinning or thickening of the skin and dryness.	UMLS:C0013426|DOID:14292|NCIT:C34565|SNOMEDCT:51689003
UBERON:0007159	lumen of colon	biolink:AnatomicalEntity	mondo			colonic lumen|colon lumen	http://purl.obolibrary.org/obo/UBERON_0007159	An anatomical cavity that surrounded_by a colon.	
MONDO:0001937	obsolete LEOPARD syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001937		
MONDO:0001950	corneal ectasia	biolink:Disease	mondo	UMLS:C0155135|SCTID:14748007|COHD:380725|DOID:1436|ICD10:H18.71|ICD9:371.71			http://purl.obolibrary.org/obo/MONDO_0001950		UMLS:C0155135|DOID:1436|SNOMEDCT:14748007
CHEBI:27306	vitamin B6	biolink:ChemicalSubstance	mondo			Vitamin B6|vitamina B6|vitamine B6|vitamin B-6	http://purl.obolibrary.org/obo/CHEBI_27306		
HP:0000708	Behavioral abnormality	biolink:PhenotypicFeature	mondo	UMLS:C0233514|UMLS:C0004941|SNOMEDCT_US:25786006|MSH:D000066553|SNOMEDCT_US:277843001|MSH:D001526		Behavioral symptoms|Behavioral disturbances|Behavioural abnormality|Behavioral problems|Behavioral abnormality|Behavioral changes|Behavioral disorders|Psychiatric disorders|Behavioral/psychiatric abnormalities|Psychiatric disturbances|Behavioural/Psychiatric abnormality	http://purl.obolibrary.org/obo/HP_0000708	An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.	
MONDO:0001954	thrombophlebitis migrans	biolink:Disease	mondo	DOID:14392|COHD:439838|ICD9:453.1|SCTID:31268005|UMLS:C0152250|ICD10:I82.1			http://purl.obolibrary.org/obo/MONDO_0001954	A thrombophlebitis that is characterized by repeated occurances of thrombophlebitis in different locations.	DOID:14392|SNOMEDCT:31268005|UMLS:C0152250
MONDO:0001953	pyuria (disease)	biolink:Disease	mondo	DOID:1439|HP:0012085|MESH:D011776		pus cells in urine|pyuria	http://purl.obolibrary.org/obo/MONDO_0001953	The presence of excessive white blood cells in the urine as determined by urinalysis.	MESH:D011776|DOID:1439|NCIT:C119028
MONDO:0001952	parietal lobe cancer	biolink:Disease	mondo	COHD:4181481|UMLS:C0153637|ICD10:C71.3|DOID:14384|SCTID:363469001|ICD9:191.3		malignant neoplasm of parietal lobe|malignant parietal lobe neoplasm|parietal lobe neoplasm|cancer of parietal lobe|tumor of parietal lobe|parietal lobe cancer	http://purl.obolibrary.org/obo/MONDO_0001952	A malignant neoplasm involving the parietal lobe	SNOMEDCT:363469001|UMLS:C0153637|DOID:14384
NCBITaxon:5653	Kinetoplastea	organism taxon	mondo	GC_ID:1		kinetoplasts|kinetoplastids|Kinetoplastida|Protomonadida	http://purl.obolibrary.org/obo/NCBITaxon_5653		
MONDO:0001951	Norwegian scabies	biolink:Disease	mondo	GARD:0012151|DOID:14374|UMLS:C0028425|SCTID:128870005|NCIT:C34855		crusted scabies|seven year itch	http://purl.obolibrary.org/obo/MONDO_0001951	A rare, severe form of scabies that is associated with immunosuppression. It is characterized by an immense number of mites and hyperkeratotic crusted lesions, and is usually accompanied by lymphadenopathy and eosinophilia.	NCIT:C34855|SNOMEDCT:128870005|UMLS:C0028425|DOID:14374
NCBITaxon:5654	Trypanosomatidae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_5654		
MONDO:0013914	hypogonadotropic hypogonadism 12 with or without anosmia	biolink:Disease	mondo	MESH:C535764|UMLS:C1856897|OMIM:614841|GARD:0000276|DOID:0090072|ICD10:E23.0	gard_rare	eunuchoidism, familial hypogonadotropic|familial hypogonadotropic eunuchoidism|eunuchoidism familial hypogonadotropic|hypogonadotropic hypogonadism 12 with or without anosmia; HH12|familial hypogonadotrophic eunuchoidism|gonadotropin deficiency familial idiopathic|familial idiopathic gonadotrpin deficiency|FIGD|hypogonadotropic hypogonadism 12 with or without anosmia|gonadotropin deficiency, familial idiopathic|HH12	http://purl.obolibrary.org/obo/MONDO_0013914	A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the GNRH1 gene on chromosome 8p21.	http://identifiers.org/omim/614841|UMLS:C1856897|DOID:0090072|MESH:C535764
MONDO:0013915	hypogonadotropic hypogonadism 13 with or without anosmia	biolink:Disease	mondo	OMIM:614842|DOID:0090073|UMLS:C3541462|ICD10:E23.0		hypogonadotropic hypogonadism caused by mutation in KISS1|hypogonadotropic hypogonadism 13 with or without anosmia; HH13|KISS1 hypogonadotropic hypogonadism|HH13|hypogonadotropic hypogonadism 13 with or without anosmia	http://purl.obolibrary.org/obo/MONDO_0013915	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1 gene.	http://identifiers.org/omim/614842|DOID:0090073|UMLS:C3541462
MONDO:0013912	hypogonadotropic hypogonadism 10 with or without anosmia	biolink:Disease	mondo	DOID:0090089|OMIM:614839|ICD10:E23.0|UMLS:C3553843		TAC3 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 10 with or without anosmia; HH10|HH10|hypogonadotropic hypogonadism 10 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in TAC3	http://purl.obolibrary.org/obo/MONDO_0013912	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TAC3 gene.	http://identifiers.org/omim/614839|DOID:0090089|UMLS:C3553843
MONDO:0013913	hypogonadotropic hypogonadism 11 with or without anosmia	biolink:Disease	mondo	ICD10:E23.0|UMLS:C3553844|OMIM:614840|DOID:0090071		HH11|TACR3 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 11 with or without anosmia; HH11|hypogonadotropic hypogonadism caused by mutation in TACR3|hypogonadotropic hypogonadism 11 with or without anosmia	http://purl.obolibrary.org/obo/MONDO_0013913	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TACR3 gene.	http://identifiers.org/omim/614840|DOID:0090071|UMLS:C3553844
MONDO:0013918	distal tetrasomy 15q	biolink:Disease	mondo	Orphanet:314588|ICD10:Q99.8|UMLS:C3553858|UMLS:CN203770|OMIM:614846	ordo_etiological_subtype	tetrasomy type 15Q26|distal tetrasomy type 15q|tetrasomy 15(q25-qter)|tetrasomy 15q26|levy-Shanske syndrome	http://purl.obolibrary.org/obo/MONDO_0013918		UMLS:CN203770|http://identifiers.org/omim/614846|ORPHA:314588|UMLS:C3553858
MONDO:0013919	epilepsy, idiopathic generalized, susceptibility to, 12	biolink:Disease	mondo	OMIM:614847|DOID:0111313	predisposition	EIG12|epilepsy, idiopathic generalized, susceptibility to, type 12|susceptibility to idiopathic generalized epilepsy 12|epilepsy, idiopathic generalized, susceptibility to, 12; EIG12|epilepsy, idiopathic generalized, susceptibility to, 12	http://purl.obolibrary.org/obo/MONDO_0013919		http://identifiers.org/omim/614847|DOID:0111313
MONDO:0013916	nephronophthisis 14	biolink:Disease	mondo	DOID:0111122|OMIM:614844|UMLS:C3539071		Joubert syndrome 19|ZNF423 nephronophthisis (disease)|nephronophthisis 14; NPHP14|NPHP14|nephronophthisis 14|nephronophthisis (disease) caused by mutation in ZNF423|nephronophthisis type 14	http://purl.obolibrary.org/obo/MONDO_0013916	Any nephronophthisis in which the cause of the disease is a mutation in the ZNF423 gene.	http://identifiers.org/omim/614844|UMLS:C3539071|DOID:0111122
HP:0000707	Abnormality of the nervous system	biolink:PhenotypicFeature	mondo	UMLS:C0497552|MSH:D009421|SNOMEDCT_US:88425004		Neurologic abnormalities|Brain and/or spinal cord issue|Neurological abnormality|Abnormality of the nervous system	http://purl.obolibrary.org/obo/HP_0000707	An abnormality of the nervous system.	
MONDO:0013917	nephronophthisis 15	biolink:Disease	mondo	OMIM:614845|UMLS:C3541853|DOID:0111123		nephronophthisis type 15|CEP164 nephronophthisis (disease)|NPHP15|nephronophthisis 15; NPHP15|nephronophthisis 15|nephronophthisis (disease) caused by mutation in CEP164	http://purl.obolibrary.org/obo/MONDO_0013917	Any nephronophthisis in which the cause of the disease is a mutation in the CEP164 gene.	http://identifiers.org/omim/614845|DOID:0111123|UMLS:C3541853
CHEBI:15339	acceptor	biolink:ChemicalSubstance	mondo			accepteur|Oxidized donor|Hydrogen-acceptor|A|Acceptor|Akzeptor	http://purl.obolibrary.org/obo/CHEBI_15339	A molecular entity that can accept an electron, a pair of electrons, an atom or a group from another molecular entity.	
UBERON:0007147	lumen of midgut	biolink:AnatomicalEntity	mondo			midgut lumen	http://purl.obolibrary.org/obo/UBERON_0007147	An anatomical cavity that surrounded_by a midgut.	
UBERON:0007144	embryonic post-anal tail	biolink:AnatomicalEntity	mondo			tail of embryo|embryo tail|embryonic tail	http://purl.obolibrary.org/obo/UBERON_0007144	An embryonic structure that will either develop into a post-anal tail or recede into a vestigial remnant of the tail.	
MONDO:0013921	herpes simplex encephalitis, susceptibility to, 4	biolink:Disease	mondo	OMIM:614850	predisposition	encephalopathy, acute, infection-induced, susceptibility to, 6|encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 6|Herpes simplex encephalitis, susceptibility to, type 4|herpes simplex encephalitis caused by mutation in TICAM1|IIAE6|herpes simplex encephalitis, susceptibility to, 4|TICAM1 herpes simplex encephalitis|encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 6; IIAE6	http://purl.obolibrary.org/obo/MONDO_0013921	Any herpes simplex encephalitis in which the cause of the disease is a mutation in the TICAM1 gene.	http://identifiers.org/omim/614850
UBERON:0007143	right internal carotid artery	biolink:AnatomicalEntity	mondo			arteria carotis interna dextra	http://purl.obolibrary.org/obo/UBERON_0007143	An internal carotid artery that branching_part_of a right common carotid artery plus branches.	
UBERON:0007142	left internal carotid artery	biolink:AnatomicalEntity	mondo			arteria caritis interna sinistra	http://purl.obolibrary.org/obo/UBERON_0007142	An internal carotid artery that branching_part_of a left common carotid artery plus branches.	
MONDO:0013922	Seckel syndrome 7	biolink:Disease	mondo	OMIM:614851|Orphanet:319675|ICD10:Q87.1|DOID:0070011|UMLS:C3553870	ordo_malformation_syndrome	Seckel syndrome 7|NIN Seckel syndrome|Seckel syndrome caused by mutation in NIN|microcephalic primordial dwarfism, Dauber type|SCKL7|Seckel syndrome 7; SCKL7|Seckel syndrome type 7	http://purl.obolibrary.org/obo/MONDO_0013922	Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.	UMLS:C3553870|DOID:0070011|ORPHA:319675|http://identifiers.org/omim/614851
CHEBI:17996	chloride	biolink:ChemicalSubstance	mondo			chloride|Chloride|Chloride(1-)|Cl-|Chlorine anion|Cl(-)|chloride(1-)|CHLORIDE ION|Chloride ion	http://purl.obolibrary.org/obo/CHEBI_17996	A halide anion formed when chlorine picks up an electron to form an an anion.	
MONDO:0013920	herpes simplex encephalitis, susceptibility to, 3	biolink:Disease	mondo	OMIM:614849	predisposition	TRAF3 herpes simplex encephalitis|herpes simplex encephalitis, susceptibility to, 3|encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 5; IIAE5|herpes simplex encephalitis caused by mutation in TRAF3|encephalopathy, acute, infection-induced, susceptibility to, 5|IIAE5|Herpes simplex encephalitis, susceptibility to, type 3|encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0013920	Any herpes simplex encephalitis in which the cause of the disease is a mutation in the TRAF3 gene.	http://identifiers.org/omim/614849
CHEBI:17997	dinitrogen	biolink:ChemicalSubstance	mondo			dinitrogen|N2|Nitrogen|molecular nitrogen|N#N	http://purl.obolibrary.org/obo/CHEBI_17997	An elemental molecule consisting of two trivalently-bonded nitrogen atoms.	
MONDO:0001947	suppurative thyroiditis	biolink:Disease	mondo	MESH:D013969|SCTID:25476006|DOID:14350|EFO:1001431|UMLS:C0040150|ICD10:E06.0|NCIT:C129724		abscess of thyroid|suppurative thyroiditis|acute suppurative thyroiditis|infectious thyroiditis	http://purl.obolibrary.org/obo/MONDO_0001947	Acute inflammatory disease of the thyroid gland due to infections by bacteria; fungi; or other microorganisms. Symptoms include tender swelling, fever, and often with leukocytosis.	SNOMEDCT:25476006|DOID:14350|NCIT:C129724|MESH:D013969|UMLS:C0040150
MONDO:0001946	hyperestrogenism	biolink:Disease	mondo	SCTID:37295009|ICD9:256.0|COHD:200677|UMLS:C0154209|EFO:0009004|DOID:14336|ICD10:E28.0		hyperestrogenism|estrogen Excess	http://purl.obolibrary.org/obo/MONDO_0001946	Abnormally high level of estrogen.	DOID:14336|SNOMEDCT:37295009|NCIT:C113344|UMLS:C0154209
MONDO:0001945	postencephalitic Parkinson disease	biolink:Disease	mondo	NCIT:C34898|MESH:D010301|Orphanet:97349|UMLS:C0030568|SCTID:19972008|DOID:14332|ICD10:G21.3|EFO:1001402	ordo_disease	postencephalitic parkinsonism|postencephalitic Parkinsonism	http://purl.obolibrary.org/obo/MONDO_0001945	A disease believed to be caused by a viral illness that triggers degeneration of the nerve cells in the substantia nigra. Overall, this degeneration leads to clinical parkinsonism.	UMLS:C0030568|DOID:14332|ORPHA:97349|NCIT:C34898|MESH:D010301|SNOMEDCT:19972008
MONDO:0001944	mixed malaria	biolink:Disease	mondo	UMLS:C0153121|ICD9:084.5|SCTID:21070001|DOID:14325		malaria by more than one parasite|malaria fever by more than one parasite	http://purl.obolibrary.org/obo/MONDO_0001944	A malaria that involves infection with more than one species of Plasmodium at the same time.	DOID:14325|UMLS:C0153121|SNOMEDCT:21070001
NCBITaxon:52564	Oesophagostomum	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_52564		
MONDO:0001949	acute thyroiditis	biolink:Disease	mondo	DOID:14353|ICD10:E06.0|UMLS:C0001360|COHD:133737|SCTID:190293001|ICD9:245.0		thyroiditis (disease), acute|acute thyroiditis (disease)	http://purl.obolibrary.org/obo/MONDO_0001949	Acute form of thyroiditis (disease).	SNOMEDCT:190293001|UMLS:C0001360|DOID:14353
MONDO:0001948	Riedel's fibrosing thyroiditis	biolink:Disease	mondo	NCIT:C35827|DOID:14351|UMLS:C1335787		Riedel fibrosing thyroiditis|Riedel thyroiditis	http://purl.obolibrary.org/obo/MONDO_0001948	An inflammatory disorder of unknown etiology that affects the thyroid gland. It is characterized by extensive fibrosis of the thyroid parenchyma. The fibrosis extends beyond the thyroid gland capsule to the adjacent structures.	NCIT:C35827|DOID:14351|UMLS:C1335787
UBERON:0007148	lumen of hindgut	biolink:AnatomicalEntity	mondo			hindgut lumen	http://purl.obolibrary.org/obo/UBERON_0007148	An anatomical cavity that surrounded_by a hindgut.	
RO:0009001	has substance added	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0009001	"has substance added" is a relation existing between a (physical) entity and a substance in which the entity has had the substance added to it at some point in time.	
CL:0000484	connective tissue type mast cell	biolink:Cell	mondo			MC(TC)|TC mast cells|MCTC	http://purl.obolibrary.org/obo/CL_0000484	Mast cell subtype whose granules contain both the serine proteases tryptase and chymase. These cells are primarily found in connective tissue, such as the peritoneal cavity, skin, and intestinal submucosa. Their development is T-cell independent.	
NCBITaxon:469	Acinetobacter	organism taxon	mondo	PMID:9336926|PMID:9226915|PMID:8934907|GC_ID:11|PMID:7520730|PMID:10028249			http://purl.obolibrary.org/obo/NCBITaxon_469		
NCBITaxon:468	Moraxellaceae	organism taxon	mondo	GC_ID:11|PMID:9542079		Acinetobacteraceae|Branhamaceae	http://purl.obolibrary.org/obo/NCBITaxon_468		
ENVO:02000099	coal dust	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_02000099	Dust which is derived from coal.	
UBERON:0010801	calcaneum pre-cartilage condensation	biolink:AnatomicalEntity	mondo			calcaneous pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0010801	A calcaneum endochondral element that is composed primarily of a pre-cartilage condensation.	
CL:0000499	stromal cell	biolink:Cell	mondo	BTO:0002064|FMA:83624			http://purl.obolibrary.org/obo/CL_0000499	A connective tissue cell of an organ found in the loose connective tissue. These are most often associated with the uterine mucosa and the ovary as well as the hematopoietic system and elsewhere.	
ENVO:02000091	coal	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_02000091	A combustible black or brownish-black sedimentary rock usually occurring in rock strata in layers or veins called coal beds or coal seams.	
CL:0000492	CD4-positive helper T cell	biolink:Cell	mondo	CALOHA:TS-1146|FMA:70572		CD4-positive helper T-cell|CD4-positive helper T lymphocyte|CD4-positive T-helper cell|CD4-positive helper T-lymphocyte	http://purl.obolibrary.org/obo/CL_0000492	A CD4-positive, alpha-beta T cell that cooperates with other lymphocytes via direct contact or cytokine release to initiate a variety of immune functions.	
NCBITaxon:5693	Trypanosoma cruzi	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_5693		
NCBITaxon:5691	Trypanosoma brucei	organism taxon	mondo	GC_ID:1		Trypanosoma brucei subgroup|Trypanosoma (Trypanozoon) brucei	http://purl.obolibrary.org/obo/NCBITaxon_5691		
NCBITaxon:5690	Trypanosoma	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_5690		
NCBITaxon:487	Neisseria meningitidis	organism taxon	mondo	GC_ID:11		Micrococcus intracellularis|Micrococcus meningitidis cerebrospinalis|Micrococcus meningitidis|Neisseria weichselbaumii|Diplokokkus intracellularis meningitidis	http://purl.obolibrary.org/obo/NCBITaxon_487		
NCBITaxon:485	Neisseria gonorrhoeae	organism taxon	mondo	GC_ID:11		Micrococcus gonorrhoeae|Gonococcus neisseri|Micrococcus gonococcus|Micrococcus der gonorrhoe|Diplococcus gonorrhoeae|Merismopedia gonorrhoeae	http://purl.obolibrary.org/obo/NCBITaxon_485		
CL:0000473	defensive cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000473	A cell whose primary function is to protect the organism.	
NCBITaxon:482	Neisseria	organism taxon	mondo	PMID:7520730|GC_ID:11		Gonococcus|"Merismopedia" Zopf 1885	http://purl.obolibrary.org/obo/NCBITaxon_482		
NCBITaxon:481	Neisseriaceae	organism taxon	mondo	PMID:23575986|PMID:13983561|PMID:16350128|PMID:8347509|GC_ID:11		Vitreoscillaceae	http://purl.obolibrary.org/obo/NCBITaxon_481		
CL:0000447	carbohydrate secreting cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000447		
UBERON:0010854	skin of front of neck	biolink:AnatomicalEntity	mondo			skin of anterior portion of neck|skin of anterior part of neck|skin of throat|skin of anterior neck	http://purl.obolibrary.org/obo/UBERON_0010854	A skin of neck that is part of a throat.	
UBERON:0007213	mesenchyme derived from head neural crest	biolink:AnatomicalEntity	mondo			head mesenchyme from cranial neural crest|head neural crest derived mesenchyme|head mesenchyme from neural crest	http://purl.obolibrary.org/obo/UBERON_0007213	Mesenchyme that develops_from a cranial neural crest.	
UBERON:0009877	metapodium region	biolink:AnatomicalEntity	mondo			cannon region|metapodium|metacarpus/metatarsus|metacarpal or metatarsal part of limb|metapodial segment|metacarpus/metatarsus region|equine cannon region	http://purl.obolibrary.org/obo/UBERON_0009877	Intermediate segment of the autopod, between the mesopodial region and and acropodial region. Examples: metacarpal region, metatarsal region	
UBERON:0009878	mesopodial skeleton	biolink:AnatomicalEntity	mondo			skeletal parts of mesopodium|mesopodium skeleton|basipodium|basipodium skeleton|mesopodium|carpal/tarsal skeleton|mesopodial skeleton	http://purl.obolibrary.org/obo/UBERON_0009878	The collection of all skeletal elements in a mesopodium. Examples: the tarsal skeleton, the carpal skeleton	
UBERON:0010852	fibula pre-cartilage condensation	biolink:AnatomicalEntity	mondo			fibulal pre-cartilage condensation|fibular pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0010852	A pre-cartilage condensation that has the potential to develop into a fibula.	
UBERON:0009879	tarsal skeleton	biolink:AnatomicalEntity	mondo			hind mesopodial skeleton|tarsalia|basipodium|mesopodium|tarsal bones set|hind mesopodium|tarsus|skeletal parts of hind mesopodium|hind mesopodium skeleton|set of tarsal bones|tarsal bones	http://purl.obolibrary.org/obo/UBERON_0009879	Subdivision of skeleton that consists of endochondral elements distal to the zeugopodial skeletal elements which constitute the proximal region of the posterior autopod skeleton[PHENOSCAPE:ad].	
CL:0000442	follicular dendritic cell	biolink:Cell	mondo	FMA:83037|BTO:0004267			http://purl.obolibrary.org/obo/CL_0000442	A cell with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue. They are unrelated to the dendritic cell associated with T cells. Follicular dendritic cells have Fc receptors and C3b receptors, but unlike other dendritic cells, they do not process or present antigen in a way that allows recognition by T cells. Instead, they hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response.	
CL:0000443	calcitonin secreting cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000443		
UBERON:0009870	zone of stomach	biolink:AnatomicalEntity	mondo			gastric zone|region of stomach|section of stomach	http://purl.obolibrary.org/obo/UBERON_0009870	A division of the stomach. The stomach can be divided based on mucosal histology (glandular epithelium and gastric glands) and the relative position and type of gastric gland.	
UBERON:0009871	nephrogenic zone	biolink:AnatomicalEntity	mondo			nephrogenic tissue	http://purl.obolibrary.org/obo/UBERON_0009871	outer portion of the renal cortex. Site of formation of medullary and cortical elements.	
UBERON:0007214	mesenchyme derived from trunk neural crest	biolink:AnatomicalEntity	mondo			trunk mesenchyme from neural crest|trunk neural crest derived mesenchyme	http://purl.obolibrary.org/obo/UBERON_0007214	Mesenchyme that develops_from a trunk neural crest.	
ENVO:00002297	obsolete environmental feature	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_00002297	OBSOLETE A material entity which determines an environmental system.	
CL:0000457	biogenic amine secreting cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000457		
CL:0000458	serotonin secreting cell	biolink:Cell	mondo			5-Hydroxytryptamine secreting cell|5-HT secreting cell	http://purl.obolibrary.org/obo/CL_0000458	A cell type that secretes 5-Hydroxytryptamine (serotonin).	
UBERON:0010850	tibia pre-cartilage condensation	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010850	A pre-cartilage condensation that has the potential to develop into a tibia.	
UBERON:0010851	fibula cartilage element	biolink:AnatomicalEntity	mondo			fibular cartilage condensation|fibulra cartilage condensation|fibulal cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0010851	A cartilaginous condensation that has the potential to develop into a fibula.	
CL:0000451	dendritic cell	biolink:Cell	mondo	CALOHA:TS-0194|FMA:83036|BTO:0002042		interdigitating cell|veiled cell	http://purl.obolibrary.org/obo/CL_0000451	A cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative).	
UBERON:0010842	calcaneum cartilage element	biolink:AnatomicalEntity	mondo			calcaneous cartilage element	http://purl.obolibrary.org/obo/UBERON_0010842	A calcaneum endochondral element that is composed primarily of cartilage tissue.	
CL:0000453	Langerhans cell	biolink:Cell	mondo	FMA:63072|CALOHA:TS-2375|BTO:0000705		LC|Langerhans' cell	http://purl.obolibrary.org/obo/CL_0000453	Langerhans cell is a conventional dendritic cell that has plasma membrane part CD207. A Langerhans cell is a stellate dendritic cell of myeloid origin, that appears clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus.	
UBERON:0010847	ulna pre-cartilage condensation	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010847	A pre-cartilage condensation that has the potential to develop into a ulna.	
UBERON:0010848	radius-ulna cartilage element	biolink:AnatomicalEntity	mondo			radio-ulna cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0010848	A radius-ulna endochondral element that is composed primarily of cartilage tissue.	
UBERON:0010846	radius pre-cartilage condensation	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010846	A pre-cartilage condensation that has the potential to develop into a radius bone.	
UBERON:0010849	tibia cartilage element	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010849	A cartilaginous condensation that has the potential to develop into a tibia.	
UBERON:0007204	brachiocephalic vasculature	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0007204	The vasculature consisting of brachiocephalic arteries and veins.	
CHEBI:52214	ligand	biolink:ChemicalSubstance	mondo			ligands	http://purl.obolibrary.org/obo/CHEBI_52214	Any molecule or ion capable of binding to a central metal atom to form coordination complexes.	
ENVO:00002264	waste material	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_00002264	A material which is not the desired output of a process and which is typically the input of a process which removes it from its producer (e.g. a disposal process).	
GO:0052548	regulation of endopeptidase activity	biolink:OntologyClass	mondo			protease regulator activity	http://purl.obolibrary.org/obo/GO_0052548	Any process that modulates the frequency, rate or extent of endopeptidase activity, the endohydrolysis of peptide bonds within proteins.	
CHEBI:52217	pharmaceutical	biolink:ChemicalSubstance	mondo			medicament|farmaco|pharmaceuticals	http://purl.obolibrary.org/obo/CHEBI_52217	Any substance introduced into a living organism with therapeutic or diagnostic purpose.	
GO:0052547	regulation of peptidase activity	biolink:OntologyClass	mondo			peptidase regulator activity	http://purl.obolibrary.org/obo/GO_0052547	Any process that modulates the frequency, rate or extent of peptidase activity, the hydrolysis of peptide bonds within proteins.	
ENVO:00002261	forest soil	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_00002261	A portion of soil which is found in a forested area.	
UBERON:0009854	digestive tract diverticulum	biolink:AnatomicalEntity	mondo			intestinal pouch|diverticulum of gut	http://purl.obolibrary.org/obo/UBERON_0009854	Branch or outpocketing of the digestive tract.	
UBERON:0009856	sac	biolink:AnatomicalEntity	mondo			pouch|diverticulum	http://purl.obolibrary.org/obo/UBERON_0009856		
HGNC:5401	SP110	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5401		
CHEBI:52210	pharmacological role	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_52210	A biological role which describes how a drug interacts within a biological system and how the interactions affect its medicinal properties.	
CHEBI:52211	physiological role	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_52211		
UBERON:0009853	body of uterus	biolink:AnatomicalEntity	mondo			uterine body|corpus uteri|uterine corpus	http://purl.obolibrary.org/obo/UBERON_0009853	The part of the uterus above the isthmus and below the orifices of the uterine tubes.	
CHEBI:52208	biophysical role	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_52208		
CHEBI:52209	aetiopathogenetic role	biolink:ChemicalSubstance	mondo			etiopathogenetic agent|etiopathogenetic role	http://purl.obolibrary.org/obo/CHEBI_52209	A role played by the molecular entity or part thereof which causes the development of a pathological process.	
UBERON:5002389	manual digit plus metapodial segment	biolink:AnatomicalEntity	mondo			manual digit digitopodial subdivision|manual digit ( phalanges plus metapodial) plus soft tissue|manual digit|manual digit ray	http://purl.obolibrary.org/obo/UBERON_5002389	A subdivision of the autopod consisting of manual digit plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis.	
CHEBI:52206	biochemical role	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_52206	A biological role played by the molecular entity or part thereof within a biochemical context.	
UBERON:0009843	prostate epithelial cord	biolink:AnatomicalEntity	mondo			epithelial cord of prostate|cord of prostate epithelium	http://purl.obolibrary.org/obo/UBERON_0009843	A solid cord of prostate epithelium.	
UBERON:0009844	urogenital sinus lumen	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009844	An anatomical space that surrounded_by a primitive urogenital sinus.	
UBERON:0009845	urogenital sinus mesenchyme	biolink:AnatomicalEntity	mondo			UGM	http://purl.obolibrary.org/obo/UBERON_0009845	Mesenchyme that surrounds primitive urogenital sinus.	
UBERON:0009846	embryonic cloacal epithelium	biolink:AnatomicalEntity	mondo			cloacal epithelium	http://purl.obolibrary.org/obo/UBERON_0009846	An epithelium that is part of a embryonic cloaca.	
UBERON:0009847	prostate field	biolink:AnatomicalEntity	mondo			prostate primordium	http://purl.obolibrary.org/obo/UBERON_0009847	A specific region of the urogenital sinus epithelium into the area in which the prostate gland will develop.	
HGNC:5414	IFITM3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5414		
UBERON:0009842	glandular acinus	biolink:AnatomicalEntity	mondo			acini|acinus	http://purl.obolibrary.org/obo/UBERON_0009842	The many-lobed berry cluster of cells that is the terminous of a gland where the secretion is produced is acinar in form.	
NCBITaxon:134362	Capnodiales	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_134362		
ENVO:01000032	neritic pelagic zone biome	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000032	The neritic epipelagic zone biome comprises the marine water column above a continental shelf.	
ENVO:01000033	oceanic pelagic zone biome	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000033	The oceanic epipelagic zone biome comprises the marine water column offshore, beyond a continental shelf.	
ENVO:01000034	oceanic sea surface microlayer biome	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000034	The oceanic sea surface microlayer (SML) biome comprises the top 1000 micrometers of the marine surface waters occurring offshore, away from a continental shelf. It is the boundary layer where all exchange occurs between the atmosphere and the ocean. The chemical, physical, and biological properties of the SML differ greatly from the sub-surface water just a few centimeters beneath.	
MONDO:0023388	pityriasis rotunda	biolink:Disease	mondo	GARD:0010904|UMLS:C0343060|SCTID:238639005	gard_rare	Pityriasis rotunda	http://purl.obolibrary.org/obo/MONDO_0023388	Pityriasis rotunda is a rare skindisease characterized by round, scaly, pigmented patches that mainly occur on the trunk, arms and legs. There are two types of pityriasis rotunda.	SNOMEDCT:238639005|UMLS:C0343060
HP:0009064	Generalized lipodystrophy	biolink:PhenotypicFeature	mondo	UMLS:C0221032|SNOMEDCT_US:284449005|MSH:D052497|SNOMEDCT_US:86907008		Generalised lipodystrophy|Lipodystrophy, generalized	http://purl.obolibrary.org/obo/HP_0009064	Generalized degenerative changes of the fat tissue.	
NCBITaxon:122377		organism taxon	mondo				http://purl.obolibrary.org/obo/NCBITaxon_122377		
ENVO:01000023	marine pelagic biome	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000023	The marine pelagic biome (pelagic meaning open sea) is that of the marine water column, from the surface to the greatest depths.	
NCBITaxon:555406	Archamoebae	organism taxon	mondo	PMID:23020233|GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_555406		
NCBITaxon:555407	Centramoebida	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_555407		
NCBITaxon:122378	Penaeus schmitti	organism taxon	mondo	GC_ID:1		Litopenaeus schmitti|white shrimp|Penaeus (Litopenaeus) schmitti	http://purl.obolibrary.org/obo/NCBITaxon_122378		
MONDO:0023370	neoplastic disease or syndrome	biolink:Disease	mondo			neoplastic disorder|neoplastic disease	http://purl.obolibrary.org/obo/MONDO_0023370	Either an isolated neoplasm or a syndrome with neoplasm as a major feature.	
MONDO:0011397	autosomal dominant cerebellar ataxia, deafness and narcolepsy	biolink:Disease	mondo	GARD:0012372|OMIM:604121|DOID:0050968|Orphanet:314404|UMLS:CN203753	gard_rare|ordo_disease	autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome|ADCADN|autosomal dominant cerebellar ataxia, deafness, and narcolepsy|cerebellar ataxia, deafness, and narcolepsy, autosomal dominant|ADCA-DN syndrome|ADCA-DN|cerebellar ataxia, deafness, and narcolepsy, autosomal dominant; ADCADN	http://purl.obolibrary.org/obo/MONDO_0011397	Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.	DOID:0050968|ORPHA:314404|http://identifiers.org/omim/604121|UMLS:CN203753
MONDO:0011396	keratoderma hereditarium mutilans with ichthyosis	biolink:Disease	mondo	MESH:C565826|ICD10:Q82.8|OMIM:604117|SCTID:717183001|Orphanet:79395|UMLS:C1858805	ordo_disease	keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome|Camisa disease|mutilating keratoderma with ichthyosis|Vohwinkel syndrome, variant form|Loricrin keratoderma|Vohwinkel syndrome with ichthyosis	http://purl.obolibrary.org/obo/MONDO_0011396	Keratoderma hereditarium mutilans with ichthyosis is a diffuse palmoplantar keratoderma, characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission.	ORPHA:79395|MESH:C565826|http://identifiers.org/omim/604117|UMLS:C1858805|SNOMEDCT:717183001
MONDO:0011399	alpha thalassemia	biolink:Disease	mondo	ICD10:D56.0|DOID:1099|ICD9:282.49|MESH:D017085|MedDRA:10043390|ICD9:282.43|OMIM:604131|UMLS:C0002312|NCIT:C34368|GARD:0000621|Orphanet:846|COHD:4287844|SCTID:68913001	ordo_disease	A-thalassemia|alpha-thalassemia|Alpha thalassaemia	http://purl.obolibrary.org/obo/MONDO_0011399	Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.	ORPHA:846|http://identifiers.org/omim/604131|DOID:1099|MESH:D017085|MEDDRA:10043390|UMLS:C1456873|SNOMEDCT:68913001|UMLS:C0002312|NCIT:C34368
MONDO:0011398	dystrophic epidermolysis bullosa pruriginosa	biolink:Disease	mondo	MESH:C563192|UMLS:C1275114|Orphanet:89843|SCTID:403810008|OMIM:604129|ICD10:Q81.2|ICD9:757.39	ordo_disease	pruriginous dystrophic epidermolysis bullosa|Deb, pruriginosa|DEB-Pr|epidermolysis bullosa pruriginosa|DEB, pruriginosa|dystrophic epidermolysis bullosa pruriginosa	http://purl.obolibrary.org/obo/MONDO_0011398	Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus.	UMLS:C1275114|MESH:C563192|http://identifiers.org/omim/604129|SNOMEDCT:403810008|ORPHA:89843
CHEBI:78840	olefinic compound	biolink:ChemicalSubstance	mondo			olefinic compounds	http://purl.obolibrary.org/obo/CHEBI_78840	Any organic molecular entity that contains at least one C=C bond.	
MONDO:0011391	megalencephalic leukoencephalopathy with subcortical cysts	biolink:Disease	mondo	ICD10:E75.2|UMLS:CN176898|MESH:C536141|SCTID:703536004|DOID:0080315|GARD:0003445|Orphanet:2478	ordo_disease|gard_rare	megalencephaly-cystic leukodystrophy|megalencephalic leukodystrophy|Vacuolating megalencephalic leukoencephalopathy with subcortical cysts|megalencephalic leukoencephalopathy with subcortical cysts 1|MLC|MLC1|megalencephalic leukoencephalopathy with subcortical cysts type 1|Van der Knaap syndrome|megalencephaly-cystic leukodystrophy syndrome	http://purl.obolibrary.org/obo/MONDO_0011391	Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions.	ORPHA:2478|DOID:0080315|MESH:C536141|SNOMEDCT:703536004|UMLS:CN176898
MONDO:0011390	focal segmental glomerulosclerosis 2	biolink:Disease	mondo	UMLS:C1858915|ICD10:N04.1|OMIM:603965|MESH:C565831|DOID:0111129		focal segmental glomerulosclerosis type 2|focal segmental glomerulosclerosis caused by mutation in TRPC6|glomerulosclerosis, focal segmental, 2|focal segmental glomerulosclerosis 2|TRPC6 focal segmental glomerulosclerosis|FSGS2|focal segmental glomerulosclerosis 2; FSGS2	http://purl.obolibrary.org/obo/MONDO_0011390	Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the TRPC6 gene.	http://identifiers.org/omim/603965|UMLS:C1858915|DOID:0111129|MESH:C565831
MONDO:0011393	hypoalphalipoproteinemia, primary, 1	biolink:Disease	mondo	OMIM:604091|GARD:0002872		hypoalphalipoproteinemia, primary|HDLD|FHD|hypoalphalipoproteinemia, familial|FHA|hypoalphalipoproteinemia, familial|HDL cholesterol, Low serum|high density lipoprotein deficiency|familial HDL deficiency	http://purl.obolibrary.org/obo/MONDO_0011393	Any ypoalphalipoproteinemia in which the cause of the disease is a mutation in the ABCA1 gene.	http://identifiers.org/omim/604091
MONDO:0011392	autosomal recessive nonsyndromic deafness 20	biolink:Disease	mondo	DOID:0110478|MESH:C565828|ICD10:H90.3|OMIM:604060|UMLS:C1858840		DFNB20|autosomal recessive deafness 20|autosomal recessive nonsyndromic deafness type 20|deafness, autosomal recessive 20|deafness, autosomal recessive 20; DFNB20	http://purl.obolibrary.org/obo/MONDO_0011392	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11q25-qter.	UMLS:C1858840|MESH:C565828|http://identifiers.org/omim/604060|DOID:0110478
MONDO:0011395	cone-rod dystrophy 3	biolink:Disease	mondo	OMIM:604116|MESH:C565827|DOID:0111013|GARD:0010653|UMLS:C1858806	gard_rare	cone-rod dystrophy 3; CORD3|cone-rod dystrophy caused by mutation in ABCA4|cone-rod dystrophy 3|cone-rod dystrophy type 3|CORD3|ABCA4 cone-rod dystrophy	http://purl.obolibrary.org/obo/MONDO_0011395	Any cone-rod dystrophy in which the cause of the disease is a mutation in the ABCA4 gene.	MESH:C565827|http://identifiers.org/omim/604116|UMLS:C1858806|DOID:0111013
MONDO:0011394	obsolete keratosis pilaris atrophicans	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0011394		
MONDO:0023368	Ho-Kaufman-McAlister syndrome	biolink:Disease	mondo	UMLS:C2931819|GARD:0001266|MESH:C538325	gard_rare	cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet|Ho Kaufman McAlister syndrome	http://purl.obolibrary.org/obo/MONDO_0023368	Cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet	UMLS:C2931819|MESH:C538325
MONDO:0023369	disease of facial skeleton	biolink:Disease	mondo			facial skeleton disease|disorder of facial skeleton|disease or disorder of facial skeleton|facial skeleton disease or disorder|disease of facial skeleton|maxillo-facial disease|maxillofacial anomaly|disorder of facial skeleton	http://purl.obolibrary.org/obo/MONDO_0023369	A disease that involves the facial skeleton.	
ENVO:01000048	ocean biome	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000048	A marine biome which is determined by an ocean.	
MONDO:0011386	microvascular complications of diabetes, susceptibility to, 1	biolink:Disease	mondo	OMIM:603933	predisposition	microvascular complications of diabetes, susceptibility to, 1; MVCD1|microvascular complications of diabetes, susceptibility to, 1|microvascular complications of diabetes, protection against|microvascular complications of diabetes, susceptibility to|proliferative retinopathy, diabetic, susceptibility to|nephropathy, diabetic, susceptibility to|VEGFA microvascular complications of diabetes, susceptibility|neuropathy, diabetic, susceptibility to|nonproliferative retinopathy, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility caused by mutation in VEGFA|microvascular complications of diabetes, susceptibility to, type 1|MVCD1|end-stage renal disease, diabetic, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0011386	Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the VEGFA gene.	http://identifiers.org/omim/603933
MONDO:0011385	intervertebral disc degenerative disorder	biolink:Disease	mondo	MESH:D055959|COHD:80816|DOID:90|SCTID:77547008|ICD9:722.6|NCIT:C26983|UMLS:C0158266		degenerative disc disease|intervertebral Disc degenerative disease|intervertebral disc degeneration|vertebral Disc degenerative disease|degenerative disorder of intervertebral disk|vertebral disc disease|vertebral Disc degenerative disorder|intervertebral Disc degenerative disorder|intervertebral disc disease|cervical disc degenerative disease|IDD|intervertebral Disc Degeneration|intervertebral disc disease; IDD|intervertebral disk degenerative disorder|lumbar disc degeneration	http://purl.obolibrary.org/obo/MONDO_0011385	Any disease of a degenerative nature that affects the intervertebral disc.	DOID:90|NCIT:C26983|SNOMEDCT:77547008|UMLS:C0158266|MESH:D055959
MONDO:0011388	obsolete cervical cancer	biolink:Disease	mondo			cervical cancer	http://purl.obolibrary.org/obo/MONDO_0011388		
MONDO:0011387	PSORS4	biolink:Disease	mondo	DOID:0111280|OMIM:603935		psoriasis 4, susceptibility to; PSORS4|PSORS4|psoriasis 4, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0011387		DOID:0111280|http://identifiers.org/omim/603935
MONDO:0011389	autosomal dominant nonsyndromic deafness 16	biolink:Disease	mondo	DOID:0110547|UMLS:C1858916|MESH:C565832|OMIM:603964|ICD10:H90.3		DFNA16|autosomal dominant nonsyndromic deafness type 16|autosomal dominant deafness 16|deafness, autosomal dominant 16; DFNA16|deafness, autosomal dominant 16	http://purl.obolibrary.org/obo/MONDO_0011389	An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q24.3.	MESH:C565832|DOID:0110547|http://identifiers.org/omim/603964|UMLS:C1858916
NCBITaxon:122354	Mansonella ozzardi	organism taxon	mondo	GC_ID:1		Mansonella (Mansonella) ozzardi	http://purl.obolibrary.org/obo/NCBITaxon_122354		
MONDO:0011380	leukoencephalopathy with vanishing white matter	biolink:Disease	mondo	SCTID:447351004|OMIM:603896|UMLS:CN199219|GARD:0000231|ICD10:E75.2|NCIT:C122664|DOID:0060868|UMLS:C1858991|Orphanet:135	ordo_disease	CACH/VWM syndrome|CACH syndrome|CACH/VWM|vanishing White matter leukodystrophy with ovarian failure|childhood ataxia with diffuse central nervous system hypomyelination|leukoencephalopathy with vanishing white matter|Cree leukoencehalopathy|CACH|vanishing white matter disease|CLE|vanishing White matter leukodystrophy|Cree leukoencephalopathy|myelinosis centralis diffusa|ovarioleukodystrophy|vanishing white matter leukodystrophy|leukoencephalopathy with vanishing WHITE matter; VWM|childhood ataxia with central nervous system hypomyelination/vanishing white matter|childhood ataxia with central nervous system hypomyelinization|VWM|childhood ataxia with central nervous system hypomyelination	http://purl.obolibrary.org/obo/MONDO_0011380	A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes ``foamy'' aspect.	UMLS:C2931489|DOID:0060868|http://identifiers.org/omim/603896|NCIT:C122664|UMLS:C1858991|ORPHA:135|MESH:C537420|SNOMEDCT:447351004|UMLS:CN199219
ENVO:01000044	marine pelagic feature	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000044	A prominent or distinctive aspect, quality, or characteristic of environments occurring within the marine water column.	
MONDO:0011382	sickle cell anemia	biolink:Disease	mondo	OMIM:603903|Orphanet:232|ICD10:D57.0|GARD:0008614|MedDRA:10040641|ICD9:282.63|NCIT:C34383|ICD9:282.6|EFO:1001797|ICD10:D57.20|ICD9:282.60|DOID:10923|UMLS:C0002895|ICD10:D57.2|ICD10:D57|ICD10:D57.1|MESH:D000755	ordo_disease	Hb SC disease|Hemoglobin S disease without crisis|sickle-cell/Hb-C disease without crisis|sickle cell disease|hemoglobin SC disease|sickle cell anemia|Hb-S/Hb-C disease|Hb-SS disease without crisis|Hemoglobin S disease|sickling disorder due to Hemoglobin S|HbS disease|drepanocytosis	http://purl.obolibrary.org/obo/MONDO_0011382	Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.	http://identifiers.org/omim/603903|DOID:10923|UMLS:C0002895|NCIT:C34383|MEDDRA:10040641|ORPHA:232|MESH:D000755
MONDO:0011381	dominant beta-thalassemia	biolink:Disease	mondo	SCTID:716682000|OMIM:603902|Orphanet:231226|UMLS:C1858990|ICD10:D56.1|MESH:C565834|UMLS:C4274391	ordo_clinical_subtype	inclusion body beta-thalassemia|dyserythropoietic Anemia, congenital, Irish or Weatherall type|BETA-thalassemia, dominant inclusion body type	http://purl.obolibrary.org/obo/MONDO_0011381	Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia.	MESH:C565834|http://identifiers.org/omim/603902|UMLS:C4274391|ORPHA:231226|SNOMEDCT:716682000|UMLS:C1858990
OBO:exo.obo#interacts_with	interacts_with	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/exo.obo#interacts_with		
MONDO:0011384	hypertension, essential, susceptibility to, 1	biolink:Disease	mondo	OMIM:603918	predisposition	hypertension, essential, susceptibility to, type 1|Hyt1|hypertension, essential, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0011384		http://identifiers.org/omim/603918
MONDO:0011383	autoimmune lymphoproliferative syndrome type 2A	biolink:Disease	mondo	UMLS:C1858968|OMIM:603909|DOID:0110115|MESH:C565833|ICD10:D47.9|UMLS:C1519709|NCIT:C39576		ALPS2A|autoimmune lymphoproliferative syndrome caused by mutation in CASP10|autoimmune lymphoproliferative syndrome, type IIA; ALPS2A|autoimmune lymphoproliferative syndrome, type 2|ALPS-CASP10|type 2 autoimmune lymphoproliferative syndrome|autoimmune lymphoproliferative syndrome, type 2A|autoimmune lymphoproliferative syndrome type IIA|autoimmune lymphoproliferative syndrome, type IIA|CASP10 autoimmune lymphoproliferative syndrome|autoimmune lymphoproliferative syndrome-CASP10 variant|type 2 ALPS	http://purl.obolibrary.org/obo/MONDO_0011383	A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the CASP10 (caspase-10) gene that leads to defective Fas-induced apoptosis. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma.	MESH:C565833|UMLS:C1519709|NCIT:C39576|http://identifiers.org/omim/603909|UMLS:C1858968|DOID:0110115
ENVO:01000041	neritic sea surface microlayer biome	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000041	The neritic sea surface microlayer (SML) biome comprises the top 1000 micrometers of marine surface waters occurring above a continental shelf. It is the boundary layer where all exchange occurs between the atmosphere and the ocean. The chemical, physical, and biological properties of the SML differ greatly from the sub-surface water just a few centimeters beneath.	
ENVO:00002202	organically enriched sediment	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_00002202	Chemically-enriched sediment which has increased levels of organic compounds.	
CHEBI:76206	xenobiotic metabolite	biolink:ChemicalSubstance	mondo			xenobiotic metabolites	http://purl.obolibrary.org/obo/CHEBI_76206	Any metabolite produced by metabolism of a xenobiotic compound.	
ENVO:00002203	inorganically enriched sediment	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_00002203	Chemically-enriched sediment which has increased levels of inorganic compounds.	
ENVO:01000017	sand	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000017	A naturally occurring granular material composed of finely divided rock and mineral particles.	
ENVO:01000016	silt	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000016	Silt is granular material of a size somewhere between sand and clay whose mineral origin is quartz and feldspar.	
ENVO:01000010	obsolete abiotic mesoscopic physical object	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_01000010		
NCBITaxon:444	Legionellaceae	organism taxon	mondo	PMID:434652|GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_444		
NCBITaxon:446	Legionella pneumophila	organism taxon	mondo	PMID:434652|GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_446		
NCBITaxon:445	Legionella	organism taxon	mondo	PMID:9734026|PMID:434652|GC_ID:11|PMID:8573522|PMID:16166707			http://purl.obolibrary.org/obo/NCBITaxon_445		
MONDO:0001884	abducens nerve neoplasm	biolink:Disease	mondo	SCTID:126972009|UMLS:C1263898|ICD9:239.7|DOID:14125|NCIT:C5826		neoplasm of abducens nerve|abducens nerve tumor|neoplasm of the abducens nerve|VIth cranial nerve tumors|abducens nerve tumors|tumor of the sixth cranial nerve|tumor of sixth cranial nerve|sixth cranial nerve neoplasm|abducens nerve neoplasms|sixth cranial nerve tumors|abducens nerve neoplasm (disease)|tumor of the abducens nerve|neoplasm of the sixth cranial nerve|neoplasm of sixth cranial nerve|sixth cranial nerve tumor|VIth cranial nerve neoplasms|tumor of abducens nerve|sixth cranial nerve neoplasms	http://purl.obolibrary.org/obo/MONDO_0001884	A neoplasm involving a abducens nerve.	DOID:14125|UMLS:C1263898|SNOMEDCT:126972009|NCIT:C5826
MONDO:0001883	blue toe syndrome	biolink:Disease	mondo	DOID:14121|UMLS:C0242645|MESH:D018438			http://purl.obolibrary.org/obo/MONDO_0001883	A condition that is caused by recurring atheroembolism in the lower extremities. It is characterized by cyanotic discoloration of the toes, usually the first, fourth, and fifth toes. Discoloration may extend to the lateral aspect of the foot. Despite the gangrene-like appearance, blue toes may respond to conservative therapy without amputation.	UMLS:C0242645|DOID:14121|MESH:D018438
MONDO:0001882	bacteriuria (disease)	biolink:Disease	mondo	DOID:1412|UMLS:C0004659|MESH:D001437|CSP:3045-9976|HP:0012461|MedDRA:10004056		bacteriuria	http://purl.obolibrary.org/obo/MONDO_0001882	The presence of bacteria in the urine which is normally bacteria-free. These bacteria are from the urinary tract and are not contaminants of the surrounding tissues. Bacteriuria can be symptomatic or asymptomatic. Significant bacteriuria is an indicator of urinary tract infection.	MESH:D001437|DOID:1412|UMLS:C0004659
HGNC:19042	MASTL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19042		
MONDO:0001881	toxic shock syndrome	biolink:Disease	mondo	UMLS:C0600327|UMLS:CN204669|ICD10:A48.3|NCIT:C35498|MESH:D012772|ICD9:040.82|COHD:201214|SCTID:18504008|DOID:14115|GARD:0009560|Orphanet:36234	ordo_disease	TSS|staphylococcal toxic shock syndrome|shock syndrome (TSS), toxic|syndrome (TSS), toxic shock|bacterial TSS|toxic shock|toxic shock syndrome, (TSS)|TSS, toxic shock syndrome|toxic shock syndrome|bacterial toxic-shock syndrome	http://purl.obolibrary.org/obo/MONDO_0001881	A rare acute life-threatening systemic bacterial noncontagious illness caused by exotoxins from bacteria of either the Streptococcus pyogenes or Staphylococcus aureus type. It is characterized by high fever, hypotension, rash, multi-organ dysfunction, and cutaneous desquamation during the early convalescent period. The toxins affect the host immune system, causing an exuberant and pathological host inflammatory response. Laboratory findings include leukocytosis, elevated prothrombin time, hypoalbuminemia, hypocalcemia, and pyuria.	NCIT:C35498|DOID:14115|MESH:D012772|ORPHA:36234|SNOMEDCT:18504008|UMLS:C0600327|UMLS:CN204669
MONDO:0001888	anus lymphoma	biolink:Disease	mondo	NCIT:C5601|UMLS:C1332268|DOID:14139		lymphoma of the anus|anus lymphoma|lymphoma of anus|primary anal lymphoma|anal lymphoma	http://purl.obolibrary.org/obo/MONDO_0001888	A usually large cell non-Hodgkin lymphoma of B-cell phenotype, arising from the anus. Lymphomas originating from the anal region are rare in the general population, but they are seen with a higher frequency in HIV-positive patients, particularly homosexual men.	UMLS:C1332268|DOID:14139|NCIT:C5601
MONDO:0001887	Allen-Masters syndrome	biolink:Disease	mondo	COHD:193523|DOID:14133|UMLS:C0152079|ICD9:620.6|SCTID:69186005		Broad ligament laceration syndrome|Masters-Allen syndrome	http://purl.obolibrary.org/obo/MONDO_0001887	A syndrome characterized by laceration in the posterior leaf of broad ligament along with abnormally mobile cervix.	DOID:14133|SNOMEDCT:69186005|UMLS:C0152079
HGNC:19041	COQ8B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19041		
MONDO:0001886	midline cystocele	biolink:Disease	mondo	DOID:14131|COHD:4311159|UMLS:C1456248|ICD9:618.01|ICD10:N81.11|SCTID:423633003			http://purl.obolibrary.org/obo/MONDO_0001886		DOID:14131|UMLS:C1456248|SNOMEDCT:423633003
MONDO:0001885	lateral cystocele	biolink:Disease	mondo	UMLS:C2711750|COHD:40480943|DOID:14130|ICD9:618.02|ICD10:N81.12|SCTID:441891001			http://purl.obolibrary.org/obo/MONDO_0001885		SNOMEDCT:441891001|DOID:14130|UMLS:C2711750
MONDO:0011207	xanthomatosis, susceptibility to	biolink:Disease	mondo	OMIM:602247|UMLS:C1865704	predisposition	xanthomatosis, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0011207		UMLS:C1865704|http://identifiers.org/omim/602247
MONDO:0011206	ventriculomegaly with defects of the radius and kidney	biolink:Disease	mondo	UMLS:C1865780|MESH:C566565|OMIM:602200		ventriculomegaly with defects of the radius and kidney	http://purl.obolibrary.org/obo/MONDO_0011206		UMLS:C1865780|http://identifiers.org/omim/602200|MESH:C566565
MONDO:0013868	POROK7	biolink:Disease	mondo	OMIM:614714		POROK7|porokeratosis 7, multiple types|porokeratosis 7, multiple types; POROK7|porokeratosis 7, disseminated superficial actinic type; POROK7|porokeratosis 7, disseminated superficial actinic type	http://purl.obolibrary.org/obo/MONDO_0013868		http://identifiers.org/omim/614714
MONDO:0011209	progeroid facial appearance with hand anomalies	biolink:Disease	mondo	UMLS:C1865699|OMIM:602249|MESH:C566563		progeroid facial appearance with hand anomalies	http://purl.obolibrary.org/obo/MONDO_0011209		UMLS:C1865699|http://identifiers.org/omim/602249|MESH:C566563
MONDO:0013869	adenine phosphoribosyltransferase deficiency	biolink:Disease	mondo	Orphanet:976|GARD:0000546|NCIT:C121564|SCTID:124274002|GARD:0010666|ICD10:E79.8|UMLS:C0268120|OMIM:614723|MESH:C538228|DOID:0060350	gard_rare|ordo_disease	adenine phosphoribosyltransferase deficiency|nephrolithiasis, Dha|Dihydroxyadeninuria|urolithiasis, 2,8-dihydroxyadenine|2,8-dihydroxyadenine urolithiasis|adenine phosphoribosyltransferase deficiency; APRTD|APRT deficiency|urolithiasis, Dha|APRTD|2,8-dihydroxyadeninuria disease	http://purl.obolibrary.org/obo/MONDO_0013869	Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.	UMLS:C0268120|http://identifiers.org/omim/614723|MESH:C538228|NCIT:C121564|ORPHA:976|DOID:0060350|SNOMEDCT:124274002
MONDO:0011208	malignant atrophic papulosis	biolink:Disease	mondo	SCTID:400171002|Orphanet:679|GARD:0006249|UMLS:C0221011|OMIM:602248|ICD10:I77.8|ICD9:447.8|NCIT:C84835|MedDRA:10064281|MESH:D054853	ordo_disease	Kohlmeier-Degos disease|Köhlmeier-Degos disease|malignant atrophic papulosis|Kohlmeier-Degos-Delort-Tricort syndrome|papulosis, malignant atrophic|Degos disease|Degos syndrome|papulosis atrophican maligna|atrophic papulosis, malignant|Köhlmeier-Degos-Delort-Tricort syndrome|Degos's malignant atrophic papulosis	http://purl.obolibrary.org/obo/MONDO_0011208	Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal.	http://identifiers.org/omim/602248|NCIT:C84835|MEDDRA:10064281|ORPHA:679|MESH:D054853|UMLS:C0221011|SNOMEDCT:400171002
MONDO:0001880	median rhomboid glossitis	biolink:Disease	mondo	SCTID:7522008|ICD9:529.2|ICD9:750.19|DOID:14111|ICD10:K14.2		persistent tuberculum impar	http://purl.obolibrary.org/obo/MONDO_0001880		SNOMEDCT:7522008|DOID:14111
MONDO:0013873	IMAGe syndrome	biolink:Disease	mondo	UMLS:C1846009|Orphanet:85173|DOID:0050885|GARD:0012312|NCIT:C130988|ICD10:Q87.1|SCTID:702384004|ICD9:759.89|OMIM:614732	ordo_malformation_syndrome|gard_rare	IMAGe syndrome|intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies|intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies|intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities	http://purl.obolibrary.org/obo/MONDO_0013873	IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.	http://identifiers.org/omim/614732|ORPHA:85173|SNOMEDCT:702384004|DOID:0050885|NCIT:C130988|UMLS:C1846009
MONDO:0011210	mitochondrial intermembrane space protein Tim12, yeast, homolog of	biolink:Disease	mondo	OMIM:602252		mitochondrial intermembrane space protein Tim12, yeast, homolog of	http://purl.obolibrary.org/obo/MONDO_0011210		http://identifiers.org/omim/602252
MONDO:0013874	glucocorticoid deficiency 4	biolink:Disease	mondo	NCIT:C131452|OMIM:614736|UMLS:C3553587		glucocorticoid deficiency 4 with or without mineralocorticoid deficiency|GCCD4|glucocorticoid deficiency 4; GCCD4|familial glucocorticoid deficiency caused by mutation in NNT|NNT familial glucocorticoid deficiency|glucocorticoid deficiency 4|glucocorticoid deficiency type 4|glucocorticoid deficiency 4 with or without mineralocorticoid deficiency; GCCD4	http://purl.obolibrary.org/obo/MONDO_0013874	Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the NNT gene.	http://identifiers.org/omim/614736|NCIT:C131452|UMLS:C3553587
HGNC:5389	IDS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5389		
MONDO:0013871	Seckel syndrome 6	biolink:Disease	mondo	DOID:0070006|UMLS:C3553582|OMIM:614728		Seckel syndrome caused by mutation in CEP63|Seckel syndrome 6; SCKL6|Seckel syndrome type 6|CEP63 Seckel syndrome|Seckel syndrome 6|SCKL6	http://purl.obolibrary.org/obo/MONDO_0013871	Any Seckel syndrome in which the cause of the disease is a mutation in the CEP63 gene.	UMLS:C3553582|DOID:0070006|http://identifiers.org/omim/614728
MONDO:0011212	sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth	biolink:Disease	mondo	UMLS:C1865645|MESH:C566560|OMIM:602340		sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth	http://purl.obolibrary.org/obo/MONDO_0011212		MESH:C566560|UMLS:C1865645|http://identifiers.org/omim/602340
MONDO:0013872	prostate cancer, hereditary, 2	biolink:Disease	mondo	UMLS:C3539120|OMIM:614731		ELAC2 familial prostate cancer|HPC2|prostate cancer, hereditary, 2|familial prostate cancer caused by mutation in ELAC2|prostate cancer, hereditary, 2; HPC2|prostate cancer, hereditary, type 2	http://purl.obolibrary.org/obo/MONDO_0013872	Any familial prostate cancer in which the cause of the disease is a mutation in the ELAC2 gene.	UMLS:C3539120|http://identifiers.org/omim/614731
MONDO:0011211	axial spondylometaphyseal dysplasia	biolink:Disease	mondo	MESH:C535795|UMLS:C1865695|OMIM:602271|GARD:0008720|ICD10:Q77.8|Orphanet:168549	ordo_disease|gard_rare	SmD axial|spondylometaphyseal dysplasia axial type|SMDAX|spondylometaphyseal dysplasia, axial|SmD, axial|spondylometaphyseal dysplasia, axial; SMDAX|axial SmD	http://purl.obolibrary.org/obo/MONDO_0011211	Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion.	MESH:C535795|UMLS:C1865695|ORPHA:168549|http://identifiers.org/omim/602271
MONDO:0011214	progressive familial intrahepatic cholestasis type 3	biolink:Disease	mondo	Orphanet:79305|UMLS:C1865643|OMIM:602347|DOID:0070223|GARD:0001289|ICD10:K76.8|MESH:C535935	gard_rare|ordo_clinical_subtype	cholestasis, progressive familial intrahepatic, 3|cholestasis, progressive familial intrahepatic, with elevated serum gamma-glutamyltransferase|progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase|cholestasis, progressive familial intrahepatic, 3; PFIC3|PFIC3|ABCB4 progressive familial intrahepatic cholestasis|cholestasis, progressive familial intrahepatic, type 3|progressive familial intrahepatic cholestasis caused by mutation in ABCB4|Mdr3 deficiency	http://purl.obolibrary.org/obo/MONDO_0011214	Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood.	DOID:0070223|ORPHA:79305|MESH:C535935|UMLS:C1865643|http://identifiers.org/omim/602347
MONDO:0013877	mitochondrial pyruvate carrier deficiency	biolink:Disease	mondo	OMIM:614741|ICD10:E74.4|DOID:0080363|Orphanet:447784|UMLS:C3553607	ordo_disease	mitochondrial pyruvate carrier deficiency|MPYCD|mitochondrial pyruvate carrier deficiency; MPYCD	http://purl.obolibrary.org/obo/MONDO_0013877	An autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation.	http://identifiers.org/omim/614741|DOID:0080363|ORPHA:447784|UMLS:C3553607
MONDO:0011213	Pierpont syndrome	biolink:Disease	mondo	Orphanet:487825|MESH:C566559|OMIM:602342|UMLS:C1865644	ordo_malformation_syndrome	PRPTS|plantar lipomatosis, unusual facies, and developmental delay|PIERPONT syndrome; PRPTS|plantar lipomatosis-facial dysmorphism-developmental delay syndrome|plantar lipomatosis-unusual facies-developmental delay syndrome|Pierpont syndrome	http://purl.obolibrary.org/obo/MONDO_0011213	Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear.	MESH:C566559|UMLS:C1865644|ORPHA:487825|http://identifiers.org/omim/602342
MONDO:0013878	pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1	biolink:Disease	mondo	UMLS:C3553617|EFO:1001501|OMIM:614742		pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1|pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 1|TERT pulmonary fibrosis and/or bone marrow failure, Telomere-related|pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in TERT|pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 1; PFBMFT1|PFBMFT1	http://purl.obolibrary.org/obo/MONDO_0013878	Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the TERT gene.	http://identifiers.org/omim/614742|UMLS:C3553617
MONDO:0011216	hemochromatosis type 2A	biolink:Disease	mondo	OMIM:602390|DOID:0111027		HJV hemochromatosis type 2|hemochromatosis, juvenile|hemochromatosis, type 2A|hemochromatosis, type 2|hemochromatosis, type 2A; HFE2A|HFE2A|hemochromatosis type 2 caused by mutation in HJV	http://purl.obolibrary.org/obo/MONDO_0011216	Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HJV gene.	http://identifiers.org/omim/602390|DOID:0111027
MONDO:0013875	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	biolink:Disease	mondo	OMIM:614739|UMLS:C3553597|Orphanet:352328|GARD:0012963|SCTID:711409002|DOID:0110001|ICD10:E71.1	gard_rare|ordo_disease	SERAC1 3-methylglutaconic aciduria|3-MGCA type IV (formerly)|MGCA6|MEGDEL|3-MGCA-4 (formerly)|3-Methylglutaconic aciduria, type 6|3-Methylglutaconic aciduria with dystonia-deafness, hepatopathy, encephalopathy, and Leigh-like syndrome|3-methylglutaconic aciduria caused by mutation in SERAC1|3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome; MEGDEL|3-methylglutaconic aciduria type 6|MEGDEL syndrome|3-methylglutaconic aciduria type VI|3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome|SERAC1 defect|3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome	http://purl.obolibrary.org/obo/MONDO_0013875	Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene.	http://identifiers.org/omim/614739|DOID:0110001|UMLS:C3553597|SNOMEDCT:711409002|ORPHA:352328
MONDO:0011215	osteocraniostenosis	biolink:Disease	mondo	ICD10:Q78.0|UMLS:C1865639|SCTID:722109008|GARD:0003396|Orphanet:2763|MESH:C537291|OMIM:602361	ordo_malformation_syndrome	skeletal dysplasia, lethal, with gracile bones|gracile bone dysplasia; GCLEB|gracile bone dysplasia|Osteocraniosplenic syndrome|Habrodysplasia|skeletal dysplasia lethal with gracile bones|GCLEB|osteocraniostenosis	http://purl.obolibrary.org/obo/MONDO_0011215	Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.	http://identifiers.org/omim/602361|SNOMEDCT:722109008|MESH:C537291|ORPHA:2763|UMLS:C1865639
MONDO:0037847	vertebral joint disease	biolink:Disease	mondo	SCTID:372109003		intervertebral joint disease or disorder|disorder of intervertebral joint|disease or disorder of intervertebral joint|disorder of intervertebral joint|disease of intervertebral joint|disorder of joint of spine|intervertebral joint disease|spondyloarthropathy	http://purl.obolibrary.org/obo/MONDO_0037847	A disease that involves the intervertebral joint.	SNOMEDCT:372109003
MONDO:0013876	basal cell carcinoma, susceptibility to, 7	biolink:Disease	mondo	OMIM:614740	predisposition	susceptibility to basal cell carcinoma 7|basal cell carcinoma, susceptibility to, 7|basal cell carcinoma, susceptibility to, type 7|basal cell carcinoma, susceptibility to, 7; BCC7|skin basal cell carcinoma caused by mutation in TP53|TP53 skin basal cell carcinoma|BCC7	http://purl.obolibrary.org/obo/MONDO_0013876	Any skin basal cell carcinoma in which the cause of the disease is a mutation in the TP53 gene.	http://identifiers.org/omim/614740
MONDO:0001879	anus cancer	biolink:Disease	mondo	NCIT:C7379|GARD:0009300|ICD9:154.3|DOID:14110|ICD9:154.2|ICD10:C21.1|ICD10:C21.0		malignant neoplasm of anus|anus cancer|malignant anal neoplasm|malignant neoplasm of the anus|malignant anal tumor|malignant anus neoplasm|anal cancer|malignant tumor of anus|cancer of anus|malignant tumor of the anus	http://purl.obolibrary.org/obo/MONDO_0001879	A malignant neoplasm involving the anus	DOID:14110|NCIT:C7379
HGNC:5382	IDH1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5382		
MONDO:0001878	acquired hypertrophic pyloric stenosis	biolink:Disease	mondo	ICD9:537.0|UMLS:C2937286|COHD:198191|DOID:14099|SCTID:266438007		adult hypertrophic pyloric stenosis|acquired gastric outlet stenosis|acquired hypertrophic pyloric stenosis	http://purl.obolibrary.org/obo/MONDO_0001878	An instance of hypertrophic pyloric stenosis that is acquired during the lifetime of the individual.	UMLS:C2937286|DOID:14099|SNOMEDCT:266438007
HGNC:5383	IDH2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5383		
HGNC:19048	ASPM	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19048		
MONDO:0013870	TMEM165-CDG	biolink:Disease	mondo	Orphanet:314667|ICD10:E77.8|UMLS:C3553571|GARD:0012413|DOID:0070263|SCTID:732252005|OMIM:614727	ordo_disease	CDG IIk|carbohydrate deficient glycoprotein syndrome type IIk|CDG-IIk|congenital disorder of glycosylation, type IIk|TMEM165-CDG (CDG-IIk)|congenital disorder of glycosylation type IIk|congenital disorder of glycosylation, type IIk; CDG2K|CDG syndrome type IIk|CDG2K|congenital disorder of glycosylation type 2k	http://purl.obolibrary.org/obo/MONDO_0013870	(4q12).	ORPHA:314667|UMLS:C3553571|DOID:0070263|SNOMEDCT:732252005|http://identifiers.org/omim/614727
HGNC:5385	IDH3B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5385		
MONDO:0001895	acute retrobulbar neuritis	biolink:Disease	mondo	DOID:14155|ICD9:377.32|UMLS:C0155301|SCTID:51604006		retrobulbar neuritis|retrobulbar neuritis (acute)|retrobulbar neuritis, acute	http://purl.obolibrary.org/obo/MONDO_0001895	Acute form of retrobulbar neuritis.	DOID:14155|UMLS:C0155301|SNOMEDCT:51604006
MONDO:0001894	spinal cord sarcoma	biolink:Disease	mondo	DOID:14152|UMLS:C1336049|NCIT:C5152		spinal cord sarcoma|sarcoma of spinal cord|sarcoma of the spinal cord	http://purl.obolibrary.org/obo/MONDO_0001894	A sarcoma that arises from the spinal cord.	DOID:14152|NCIT:C5152|UMLS:C1336049
MONDO:0001893	spinal cord melanoma	biolink:Disease	mondo	DOID:14151|UMLS:C1336045|NCIT:C5158		melanoma (disease) of spinal cord|melanoma of spinal cord|melanoma of the spinal cord|spinal cord melanoma|spinal cord melanoma (disease)	http://purl.obolibrary.org/obo/MONDO_0001893	A melanoma (disease) that involves the spinal cord.	DOID:14151|NCIT:C5158|UMLS:C1336045
MONDO:0001892	spinal cord lymphoma	biolink:Disease	mondo	DOID:14150|UMLS:C1336044|NCIT:C5157		spinal cord lymphoma|lymphoma of spinal cord|lymphoma of the spinal cord|spinal cord cancer|primary spinal cord lymphoma	http://purl.obolibrary.org/obo/MONDO_0001892	A non-Hodgkin or Hodgkin lymphoma that arises in the spinal cord as a primary lesion.	DOID:14150|UMLS:C1336044|NCIT:C5157
MONDO:0001899	rheumatic congestive heart failure	biolink:Disease	mondo	ICD10:I09.81|UMLS:C0155582|COHD:315295|ICD9:398.91|SCTID:82523003|DOID:14172		rheumatic heart failure (congestive)|rheumatic heart failure|congestive rheumatic heart failure	http://purl.obolibrary.org/obo/MONDO_0001899		DOID:14172|UMLS:C0155582|SNOMEDCT:82523003
MONDO:0001898	optic choroid disease	biolink:Disease	mondo	ICD10:H31.9|NCIT:C34468|MESH:D015862|UMLS:C0008521|ICD9:363.8|ICD9:363.9|DOID:1417|SCTID:128468007		disorder of optic choroid|choroid disorder|optic choroid disease|disorder of optic choroid|choroid disease|disease or disorder of optic choroid|disease of optic choroid|optic choroid disease or disorder	http://purl.obolibrary.org/obo/MONDO_0001898	A disease involving the optic choroid.	SNOMEDCT:128468007|MESH:D015862|NCIT:C34468|UMLS:C0008521|DOID:1417
MONDO:0001897	bilateral hyperactive labyrinth	biolink:Disease	mondo	UMLS:C0155516|DOID:14165|ICD9:386.52|SCTID:194373002		hyperactive labyrinth, bilateral|hyperactive bilateral labyrinthine dysfunction	http://purl.obolibrary.org/obo/MONDO_0001897		SNOMEDCT:194373002|DOID:14165|UMLS:C0155516
MONDO:0001896	obstructive hydrocephalus	biolink:Disease	mondo	ICD9:331.4|NCIT:C116347|UMLS:C0549423|COHD:440385|SCTID:230746009|DOID:14159|ICD10:G91.1		non-communicating hydrocephalus	http://purl.obolibrary.org/obo/MONDO_0001896	An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of an obstruction at any location within the ventricular system that prevents cerebrospinal fluid flowing into the subarachnoid space.	SNOMEDCT:230746009|NCIT:C116347|DOID:14159|UMLS:C0549423
MONDO:0013859	cataract 38	biolink:Disease	mondo	DOID:0110245|OMIM:614691|ICD10:Q12.0|UMLS:C3553494		AGK early-onset non-syndromic cataract|cataract 38|cataract, autosomal recessive congenital 5|cataract 38; CTRCT38|early-onset non-syndromic cataract caused by mutation in AGK|CATC5|CTRCT38|autosomal recessive congenital cataract 5|cataract type 38	http://purl.obolibrary.org/obo/MONDO_0013859	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the AGK gene.	UMLS:C3553494|http://identifiers.org/omim/614691|DOID:0110245
MONDO:0013857	alar cleft, isolated	biolink:Disease	mondo	OMIM:614687|UMLS:C3553476		alar cleft, isolated	http://purl.obolibrary.org/obo/MONDO_0013857		http://identifiers.org/omim/614687|UMLS:C3553476
HP:0000405	Conductive hearing impairment	biolink:PhenotypicFeature	mondo	MSH:D006314|UMLS:C0018777|SNOMEDCT_US:44057004	hposlim_core	Conductive deafness|Conduction deafness|Hearing loss, conductive|Conductive hearing loss	http://purl.obolibrary.org/obo/HP_0000405	An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.	
MONDO:0013858	pontine tegmental cap dysplasia	biolink:Disease	mondo	UMLS:C3541340|OMIM:614688|ICD10:Q04.8|GARD:0010919|Orphanet:269229	gard_rare|ordo_morphological_anomaly	pontine tegmental cap dysplasia|PTCD|PONTINE tegmental CAP dysplasia; PTCD	http://purl.obolibrary.org/obo/MONDO_0013858	Pontine tegmental cap dysplasia (PTCD) is a non-progressive neurological disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain.Individuals with PTCD may have a collection of medical and developmental problems including: hearing impairment, ataxia,language and speech disorders, feeding and swallowingdifficulties, heartmalformations and facial paralysis.The severity of themedical problems varies among patients. Some patients have a good long-term prognosiswith normal intelligence and partial speech. The cause of PTCD has not been identified. Treatment is focused on managing the underlying symptoms and may include interventions such as cochlear implantation.	ORPHA:269229|http://identifiers.org/omim/614688|UMLS:C3541340
UBERON:0010498	pseudostratified columnar epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010498	A simple columnar epithelium that looks stratified but is not, because its cells are arranged with their nuclei at different levels.	
MONDO:0001891	obsolete malignant anus melanoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001891		
HP:0000407	Sensorineural hearing impairment	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:60700002|UMLS:C0018784|MSH:D006319	hposlim_core	Sensorineural hearing loss|Sensorineural deafness|Hearing loss, sensorineural	http://purl.obolibrary.org/obo/HP_0000407	A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.	
MONDO:0001890	pulp erosion	biolink:Disease	mondo	ICD9:521.33|DOID:14140		dental pulp tooth erosion, non-bacterial|tooth erosion, non-bacterial of dental pulp	http://purl.obolibrary.org/obo/MONDO_0001890	A tooth erosion, non-bacterial that involves the dental pulp.	DOID:14140
UBERON:0010499	pseudostratified ciliated columnar epithelium	biolink:AnatomicalEntity	mondo			epithelium pseudostratificatum columnare ciliatum (trachea et bronchi)	http://purl.obolibrary.org/obo/UBERON_0010499	Epithelium composed of a single layer of cells, appearing as layered because the column-shaped cells vary in height so the nuclei are at different levels. The basal portions of all the cells are in contact with the basement membrane. It lines the respiratory system and the male reproductive tract. The cilia in the respiratory tract are motile, while the stereocilia in the male reproductive tract are immobile.	
HGNC:20041	ZNF408	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20041		
MONDO:0013862	immunodeficiency, common variable, 7	biolink:Disease	mondo	UMLS:C3542922|OMIM:614699		immunodeficiency, common variable, 7|immunodeficiency, common variable, 7; CVID7|CVID7|immunodeficiency, common variable, type 7	http://purl.obolibrary.org/obo/MONDO_0013862		http://identifiers.org/omim/614699|UMLS:C3542922
MONDO:0013863	combined immunodeficiency due to LRBA deficiency	biolink:Disease	mondo	OMIM:614700|Orphanet:445018|UMLS:C3553512|ICD10:D81.8	ordo_disease	immunodeficiency, common variable, 8, with autoimmunity|CVID8|Cid due to LRBA deficiency|immunodeficiency, common variable, 8, with autoimmunity; CVID8	http://purl.obolibrary.org/obo/MONDO_0013863		http://identifiers.org/omim/614700|ORPHA:445018|UMLS:C3553512
MONDO:0013860	idiopathic membranous glomerulonephritis	biolink:Disease	mondo	SCTID:722119002|UMLS:C0086445|OMIM:614692|ICD10:N04.2|NCIT:C123060|Orphanet:97560|GARD:0009180	ordo_disease	membranous nephropathy, susceptibility to; MBNP|membranous nephropathy, susceptibility to|Idiopathic membranous glomerulopathy|membranous nephropathy - Idiopathic|Extramembranous glomerulonephritis|idiopathic membranous nephropathy|MGN|glomerulonephritis, membranous|membranous GN|MBNP	http://purl.obolibrary.org/obo/MONDO_0013860	Idiopathic membranous glomerulonephritis (IMG) is a primary glomerular disease characterized by proteinuria, usually in the nephrotic range, with preserved renal function.	http://identifiers.org/omim/614692|UMLS:C0086445|SNOMEDCT:722119002|ORPHA:97560|NCIT:C123060
MONDO:0011201	ETM2	biolink:Disease	mondo	GARD:0009500|DOID:0111429|MESH:C536546|OMIM:602134		tremor hereditary essential, 2|tremor, hereditary essential, 2|tremor, hereditary essential, 2; ETM2|ETM2	http://purl.obolibrary.org/obo/MONDO_0011201		DOID:0111429|MESH:C536546|http://identifiers.org/omim/602134
MONDO:0013861	amyotrophic lateral sclerosis type 17	biolink:Disease	mondo	UMLS:C1836076|MESH:C563708|OMIM:614696|DOID:0060208		amyotrophic lateral sclerosis, Chmp2B-related|CHMP2B amyotrophic lateral sclerosis|amyotrophic lateral sclerosis 17|amyotrophic lateral sclerosis caused by mutation in CHMP2B|amyotrophic lateral sclerosis type 17|amyotrophic lateral sclerosis 17; ALS17|CHMP2B-related amyotrophic lateral sclerosis|ALS17	http://purl.obolibrary.org/obo/MONDO_0013861	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the CHMP2B gene.	http://identifiers.org/omim/614696|DOID:0060208|UMLS:C1836076|MESH:C563708
MONDO:0011200	torsion dystonia 7	biolink:Disease	mondo	Orphanet:93963|OMIM:602124|MESH:C566572|DOID:0090040		cervical dystonia, primary|torsion dystonia type 7|DYT7|dystonia 7, torsion; DYT7|torsion dystonia, focal adult-onset|dystonia 7, torsion	http://purl.obolibrary.org/obo/MONDO_0011200	A focal dystonia characterized by predomiantly cervical dystonia that has material basis in variation in the chromosome region 18p.	ORPHA:93963|MESH:C566572|DOID:0090040|http://identifiers.org/omim/602124
MONDO:0011203	Pierre Robin sequence with pectus excavatum and rib and scapular anomalies	biolink:Disease	mondo	OMIM:602196|GARD:0010090|MESH:C535775|UMLS:C1865783	gard_rare	Pierre Robin sequence with pectus excavatum and rib and scapular anomalies|skeletal dysplasia related to campomelic dysplasia|campomelic dysplasia, mild	http://purl.obolibrary.org/obo/MONDO_0011203		UMLS:C1865783|http://identifiers.org/omim/602196|MESH:C535775
MONDO:0013866	neuronal ceroid lipofuscinosis 11	biolink:Disease	mondo	Orphanet:314629|UMLS:C3539123|DOID:0110732|OMIM:614706|ICD10:E75.4	ordo_etiological_subtype	ceroid lipofuscinosis, neuronal, type 11|ceroid lipofuscinosis, neuronal, 11; CLN11|ceroid lipofuscinosis, neuronal, 11|CLN11 disease|CLN11|GRN neuronal ceroid lipofuscinosis|Grn neuronal ceroid lipofuscinosis|neuronal ceroid lipofuscinosis caused by mutation in GRN|neuronal ceroid lipofuscinosis caused by mutation in Grn|neuronal ceroid lipofuscinosis type 11	http://purl.obolibrary.org/obo/MONDO_0013866	Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the GRN gene.	http://identifiers.org/omim/614706|UMLS:C3539123|ORPHA:314629|DOID:0110732
MONDO:0013867	brown-Vialetto-van Laere syndrome 2	biolink:Disease	mondo	OMIM:614707|HGNC:30224|GARD:0012861|UMLS:C3553538	gard_rare	BVVLS2|SLC52A2 Brown-Vialetto-van Laere syndrome|Brown-Vialetto-Van Laere syndrome type 2|brown-Vialetto-van Laere syndrome 2|BROWN-Vialetto-VAN Laere syndrome 2; BVVLS2|Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A2	http://purl.obolibrary.org/obo/MONDO_0013867	Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A2 gene.	http://identifiers.org/omim/614707|UMLS:C3553538
MONDO:0011202	RHYNS syndrome	biolink:Disease	mondo	SCTID:723999009|MESH:C537612|OMIM:602152|GARD:0009681|UMLS:C1865794|Orphanet:140976	ordo_disease	retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia|retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome|RHYNS syndrome|retinitis pigmentosa syndrome	http://purl.obolibrary.org/obo/MONDO_0011202	RHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.	SNOMEDCT:723999009|ORPHA:140976|MESH:C537612|UMLS:C1865794|http://identifiers.org/omim/602152
MONDO:0011205	medium chain 3-ketoacyl-Coa thiolase deficiency	biolink:Disease	mondo	GARD:0010329|UMLS:C1865781|MESH:C566566|OMIM:602199	gard_rare	medium chain 3-ketoacyl-Coa thiolase deficiency|Mckat deficiency|medium-chain 3-ketoacyl-coa thiolase deficiency	http://purl.obolibrary.org/obo/MONDO_0011205		http://identifiers.org/omim/602199|UMLS:C1865781|MESH:C566566
MONDO:0013864	Cornelia de Lange syndrome 4	biolink:Disease	mondo	UMLS:C3553517|OMIM:614701|DOID:0080508		CDLS4|Cornelia de Lange syndrome caused by mutation in RAD21|Cornelia De Lange syndrome type 4|Cornelia DE Lange syndrome 4; CDLS4|Cornelia de Lange syndrome 4|RAD21 Cornelia de Lange syndrome	http://purl.obolibrary.org/obo/MONDO_0013864	Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the RAD21 gene.	http://identifiers.org/omim/614701|DOID:0080508|UMLS:C3553517
MONDO:0011204	cerebellar degeneration-related autoantigen 3	biolink:Disease	mondo	OMIM:602197		cerebellar Degeneration-related autoantigen type 3|cerebellar degeneration-related autoantigen 3|Cdr3	http://purl.obolibrary.org/obo/MONDO_0011204		http://identifiers.org/omim/602197
MONDO:0013865	mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	biolink:Disease	mondo	OMIM:614702|DOID:0111480|UMLS:C3553529|ICD10:I42.2|Orphanet:314637	ordo_disease	combined oxidative phosphorylation deficiency 10|cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis|combined oxidative phosphorylation defect type 10|MTO1 combined oxidative phosphorylation deficiency|COXPD10|combined oxidative phosphorylation deficiency type 10|combined oxidative phosphorylation deficiency caused by mutation in MTO1|combined oxidative phosphorylation deficiency 10; COXPD10	http://purl.obolibrary.org/obo/MONDO_0013865	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.	http://identifiers.org/omim/614702|DOID:0111480|ORPHA:314637|UMLS:C3553529
MONDO:0037858	inherited fatty acid metabolism disorder	biolink:Disease	mondo	SCTID:39929009|NCIT:C117115		disorder of fatty acid metabolism|fatty acid metabolism disorder|disorders of fatty-acid metabolism|disorder of fat oxidation	http://purl.obolibrary.org/obo/MONDO_0037858	A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources.	NCIT:C117115|SNOMEDCT:39929009
HGNC:5391	IDUA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5391		
MONDO:0001889	ovarian dysfunction	biolink:Disease	mondo	ICD9:256.3|ICD9:256.39|DOID:1414|ICD10:E28|ICD9:256.9|NCIT:C113351|SCTID:37102008|ICD9:256.8|EFO:0009003		ovarian hypofunction|ovarian failure|ovarian insufficiency	http://purl.obolibrary.org/obo/MONDO_0001889	The inability of the ovaries to function.	NCIT:C113351|DOID:1414|SNOMEDCT:37102008
HGNC:5394	CFI	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5394		
MONDO:0001862	malignant visceral pleura tumor	biolink:Disease	mondo	DOID:14033|SCTID:94140004|UMLS:C0153496		primary malignant neoplasm of visceral pleura	http://purl.obolibrary.org/obo/MONDO_0001862		UMLS:C0153496|DOID:14033|SNOMEDCT:94140004
MONDO:0001861	malignant parietal pleura tumor	biolink:Disease	mondo	DOID:14032|SCTID:93948004|UMLS:C0153495		primary malignant neoplasm of parietal pleura	http://purl.obolibrary.org/obo/MONDO_0001861		UMLS:C0153495|DOID:14032|SNOMEDCT:93948004
MONDO:0001860	folic acid deficiency anemia	biolink:Disease	mondo	DOID:14026|ICD10:D52|ICD10:D52.9|UMLS:C0151482|ICD9:281.2|SCTID:85649008		folate-deficiency anemia|folate-deficient megaloblastic anaemia|folate deficiency anemia	http://purl.obolibrary.org/obo/MONDO_0001860		UMLS:C0151482|DOID:14026|SNOMEDCT:85649008
MONDO:0001866	bipolar I disorder	biolink:Disease	mondo	SCTID:371596008|DOID:14042|ICD9:296.50|COHD:432876|ICD9:296.7		bipolar 1 disorder|bipolar I disorder	http://purl.obolibrary.org/obo/MONDO_0001866	A bipolar disorder that is characterized by at least one manic or mixed episode.	DOID:14042|SNOMEDCT:371596008
MONDO:0001865	obsolete autoimmune polyendocrinopathy syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001865		
MONDO:0001864	residual stage angle-closure glaucoma	biolink:Disease	mondo	DOID:1404|ICD10:H40.24|ICD9:365.24|COHD:436109|SCTID:55129006|UMLS:C0154948		residual stage of angle-closure glaucoma	http://purl.obolibrary.org/obo/MONDO_0001864		UMLS:C0154948|SNOMEDCT:55129006|DOID:1404
MONDO:0001863	aorta atresia	biolink:Disease	mondo	ICD9:747.22|DOID:14037|SCTID:204431007|ICD10:Q25.2		congenital atresia and stenosis of aorta|atresia and stenosis of aorta	http://purl.obolibrary.org/obo/MONDO_0001863	An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta.	DOID:14037|SNOMEDCT:204431007
BFO:0000117	has occurrent part	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BFO_0000117		
MONDO:0013848	dilated cardiomyopathy 2B	biolink:Disease	mondo	UMLS:C3553409|DOID:0110441|OMIM:614672|ICD10:I42.0		cardiomyopathy, dilated, type 2B|GATAD1 familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, 2B|familial isolated dilated cardiomyopathy caused by mutation in GATAD1|CMD2B|cardiomyopathy, dilated, 2B; CMD2B|dilated cardiomyopathy type 2B	http://purl.obolibrary.org/obo/MONDO_0013848	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the GATAD1 gene.	UMLS:C3553409|http://identifiers.org/omim/614672|DOID:0110441
MONDO:0013849	microcephaly 8, primary, autosomal recessive	biolink:Disease	mondo	OMIM:614673|DOID:0070282|UMLS:C3553414		MCPH8|microcephaly 8, primary, autosomal recessive; MCPH8|CEP135 autosomal recessive primary microcephaly|microcephaly 8, primary, autosomal recessive|autosomal recessive primary microcephaly caused by mutation in CEP135	http://purl.obolibrary.org/obo/MONDO_0013849	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP135 gene.	UMLS:C3553414|DOID:0070282|http://identifiers.org/omim/614673
MONDO:0013846	peripartum cardiomyopathy, susceptibility to	biolink:Disease	mondo	OMIM:614670	predisposition	Ppcm, susceptibility to|peripartum cardiomyopathy, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0013846		http://identifiers.org/omim/614670
MONDO:0013847	chromosome 16p11.2 duplication syndrome	biolink:Disease	mondo	SCTID:765142003|Orphanet:370079|OMIM:614671|GARD:0012388|ICD10:Q92.3|UMLS:C3553407|DOID:0060430	ordo_malformation_syndrome|predisposition	16p11.2 duplication|AUTS14B|16p11.2 microduplication|proximal trisomy 16p11.2|susceptibility to autism, 14B|autism, susceptibility to, 14B|chromosome 16p11.2 duplication syndrome|proximal 16p11.2 microduplication syndrome|proximal dup(16)(p11.2)|16p11.2 duplication syndrome	http://purl.obolibrary.org/obo/MONDO_0013847	Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.	DOID:0060430|UMLS:C3553407|ORPHA:370079|http://identifiers.org/omim/614671|SNOMEDCT:765142003
NCBITaxon:27872	Xiphidiata	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_27872		
NCBITaxon:27871	Plagiorchiida	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_27871		
MONDO:0013851	autosomal dominant aplasia and myelodysplasia	biolink:Disease	mondo	ICD10:D61.0|Orphanet:314399|OMIM:614675|UMLS:C3808553|UMLS:CN203751	ordo_disease	bone marrow failure syndrome 1|autosomal dominant aplastic anemia and myelodysplasia|bone marrow failure syndrome 1; BMFS1|bone marrow failure syndrome type 1|BMFS1	http://purl.obolibrary.org/obo/MONDO_0013851		http://identifiers.org/omim/614675|UMLS:CN203751|ORPHA:314399|UMLS:C3808553
MONDO:0013852	hypertrophic cardiomyopathy 21	biolink:Disease	mondo	OMIM:614676|UMLS:C3553442|DOID:0110311		cardiomyopathy, familial hypertrophic, 21|hypertrophic cardiomyopathy type 21|cardiomyopathy familial hypertrophic 21|cardiomyopathy, familial hypertrophic, 21; CMH21|CMH21	http://purl.obolibrary.org/obo/MONDO_0013852	A hypertrophic cardiomyopathy associated that has material basis in region 7p12.1-q21 variation.	http://identifiers.org/omim/614676|DOID:0110311|UMLS:C3553442
MONDO:0013850	obsolete periodic fever, menstrual cycle-dependent	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0013850		
MONDO:0013855	influenza, severe, susceptibility to	biolink:Disease	mondo	OMIM:614680	predisposition	influenza, severe, susceptibility to|susceptibility to severe influenza	http://purl.obolibrary.org/obo/MONDO_0013855		http://identifiers.org/omim/614680
MONDO:0013856	hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes	biolink:Disease	mondo	UMLS:C3553465|OMIM:614684		hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes|hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes	http://purl.obolibrary.org/obo/MONDO_0013856		http://identifiers.org/omim/614684|UMLS:C3553465
MONDO:0013853	pontocerebellar hypoplasia type 1B	biolink:Disease	mondo	OMIM:614678|UMLS:C3553449|DOID:0060266		pontocerebellar hypoplasia, type 1B; PCH1B|pontocerebellar hypoplasia, type 1B|PCH1B|non-syndromic pontocerebellar hypoplasia caused by mutation in EXOSC3|EXOSC3 non-syndromic pontocerebellar hypoplasia	http://purl.obolibrary.org/obo/MONDO_0013853	Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene.	http://identifiers.org/omim/614678|DOID:0060266|UMLS:C3553449
MONDO:0013854	primary ciliary dyskinesia 17	biolink:Disease	mondo	UMLS:C3542550|OMIM:614679|ICD10:Q34.8|DOID:0110621		CCDC103 primary ciliary dyskinesia|CILD17|ciliary dyskinesia, primary, 17|ciliary dyskinesia, primary, 17; CILD17|ciliary dyskinesia, primary, 17, with or without situs inversus|primary ciliary dyskinesia type 17|primary ciliary dyskinesia 17 with or without situs inversus|primary ciliary dyskinesia caused by mutation in CCDC103|ciliary dyskinesia, primary, type 17	http://purl.obolibrary.org/obo/MONDO_0013854	Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC103 gene.	http://identifiers.org/omim/614679|UMLS:C3542550|DOID:0110621
UBERON:0009494	pharyngeal arch mesenchymal region	biolink:AnatomicalEntity	mondo			pharyngeal arch mesenchyme|branchial arch mesenchyme	http://purl.obolibrary.org/obo/UBERON_0009494	A portion of mesenchymal tissue associated with an individual pharyngeal arch.	
MONDO:0001859	algoneurodystrophy	biolink:Disease	mondo	ICD10:M89.00|DOID:14022|ICD9:733.7|ICD10:M89.0			http://purl.obolibrary.org/obo/MONDO_0001859		DOID:14022
MONDO:0001858	Tietze syndrome	biolink:Disease	mondo	SCTID:30128009|GARD:0010100|COHD:134461|MESH:D013991|NCIT:C168333|ICD10:M94.0|ICD9:733.6|UMLS:C0040213|DOID:14021		Tietze syndrome|Tietze's disease|Costalchondritis|costochondral junction syndrome|costochondral joint syndromic disease|Tietze's syndrome|syndromic disease of costochondral joint|Costochondritis|slipping rib syndrome|Chondropathia tuberosa	http://purl.obolibrary.org/obo/MONDO_0001858	Idiopathic painful nonsuppurative swellings of one or more costal cartilages, especially of the second rib. The anterior chest pain may mimic that of coronary artery disease. (Dorland, 27th ed.)	NCIT:C168333|SNOMEDCT:30128009|DOID:14021|MESH:D013991|UMLS:C0040213
MONDO:0001857	Brucella canis brucellosis	biolink:Disease	mondo	ICD9:023.3|SCTID:428174001|DOID:14019|ICD10:A23.3|UMLS:C0494040			http://purl.obolibrary.org/obo/MONDO_0001857	A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has symptom fever, has symptom sweats, has symptom weakness, has symptom weight loss, has symptom headache, has symptom lymphadenopathy and has symptom splenomegaly.	UMLS:C0494040|DOID:14019|SNOMEDCT:428174001
MONDO:0001856	splenic artery aneurysm	biolink:Disease	mondo	UMLS:C0155747|ICD9:442.83|DOID:14006|COHD:194964|SCTID:70405009			http://purl.obolibrary.org/obo/MONDO_0001856		UMLS:C0155747|SNOMEDCT:70405009|DOID:14006
UBERON:0009497	epithelium of foregut-midgut junction	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009497	An epithelium that is part of a foregut-midgut junction.	
ECTO:0500000	exposure to manufactured product	biolink:OntologyClass	mondo			manufactured product exposure	http://purl.obolibrary.org/obo/ECTO_0500000	A exposure event involving the interaction of an exposure receptor to manufactured product.	
HGNC:19027	LRRC8A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19027		
MONDO:0001873	geniculate ganglionitis	biolink:Disease	mondo	ICD9:351.1|ICD10:G51.1|SCTID:72839009|DOID:14075|COHD:376963|UMLS:C0017407		inflammation of geniculate ganglion|geniculate ganglionitis|geniculate ganglion inflammation	http://purl.obolibrary.org/obo/MONDO_0001873	Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation.	DOID:14075|SNOMEDCT:72839009|UMLS:C0017407
MONDO:0001872	obsolete vestibular nystagmus (disease)	biolink:Disease	mondo	ICD9:379.54|SCTID:46888001|UMLS:C0155379|COHD:377568|DOID:14070		Nystagmus associated with disorder of the vestibular system|vestibular nystagmus	http://purl.obolibrary.org/obo/MONDO_0001872		DOID:14070|SNOMEDCT:46888001|UMLS:C0155379
MONDO:0001871	acute diffuse glomerulonephritis	biolink:Disease	mondo	DOID:14066|UMLS:C0341689|NCIT:C35587|SCTID:197585004		acute diffuse glomerulonephritis|acute diffuse nephritis|diffuse glomerulonephritis, acute	http://purl.obolibrary.org/obo/MONDO_0001871	An acute inflammation of the glomeruli, in which all glomeruli are affected, resulting in acute renal failure.	NCIT:C35587|SNOMEDCT:197585004|DOID:14066|UMLS:C0341689
MONDO:0001870	acute poststreptococcal glomerulonephritis	biolink:Disease	mondo	DOID:14064|SCTID:68544003|UMLS:C0403414		post-streptococcal glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0001870	Acute post streptococcal glomerulonephritis is an immunologic response of the kidney to infection, characterized by the sudden appearance of edema, hematuria, proteinuria and hypertension. It is essentially a disease of childhood that accounts for approximately 90% of renal disorders in children. The disease occurs especially in children between the ages of 2 and 12 years and young adults, and more often in male than in female.	DOID:14064|SNOMEDCT:68544003|UMLS:C0403414
MONDO:0001877	infertility due to extratesticular cause	biolink:Disease	mondo	SCTID:84245004|UMLS:C0021360|DOID:14096|ICD9:606.8|COHD:201354		infertility due to extratesticular causes	http://purl.obolibrary.org/obo/MONDO_0001877		UMLS:C0021360|SNOMEDCT:84245004|DOID:14096
MONDO:0001876	renal artery atheroma	biolink:Disease	mondo	COHD:195834|SCTID:45281005|ICD10:I70.1|DOID:14092|ICD9:440.1|UMLS:C0155734		renal artery atherosclerosis|atherosclerosis of renal artery|renal atherosclerosis	http://purl.obolibrary.org/obo/MONDO_0001876	A atherosclerosis that involves the renal artery.	SNOMEDCT:45281005|DOID:14092|UMLS:C0155734
UBERON:0009480	endoderm of buccopharyngeal membrane	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009480	An endoderm that is part of a buccopharyngeal membrane.	
MONDO:0001875	epicondylitis	biolink:Disease	mondo	UMLS:C0014488|MESH:D013716|DOID:14087|ICD10:M77.1|NCIT:C34589|ICD9:726.32|SCTID:202855006		golfer's elbow|andrel epicondylitis|ectepicondyle of humerus inflammation|tennis elbow|inflammation of ectepicondyle of humerus|lateral epicondylitis|shooter's elbow|hockey elbow|archer's elbow|medial epicondylitis	http://purl.obolibrary.org/obo/MONDO_0001875	Inflammation of the lateral epicondyle.	UMLS:C0014488|SNOMEDCT:202855006|DOID:14087|MESH:D013716|NCIT:C34589
MONDO:0001874	toxic labyrinthitis	biolink:Disease	mondo	SCTID:3344003|SCTID:9062008|UMLS:C0155507|EFO:0006951|ICD9:386.34|DOID:14081		ototoxicity	http://purl.obolibrary.org/obo/MONDO_0001874	A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic.	DOID:14081|SNOMEDCT:3344003|SNOMEDCT:9062008|UMLS:C0155507
UBERON:0009482	associated mesenchyme of foregut-midgut junction	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009482	Mesenchyme that is part of a foregut-midgut junction.	
MONDO:0013837	deafness-encephaloneuropathy-obesity-valvulopathy syndrome	biolink:Disease	mondo	ICD10:E88.8|DOID:0070239|Orphanet:254898|OMIM:614651|UMLS:C3553354	ordo_disease	coenzyme Q10 deficiency, primary, 2; COQ10D2|hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome|COQ10D2|coenzyme Q10 deficiency, primary, type 2|coenzyme Q10 deficiency, primary, 2	http://purl.obolibrary.org/obo/MONDO_0013837	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.	ORPHA:254898|UMLS:C3553354|DOID:0070239|http://identifiers.org/omim/614651
MONDO:0013838	coenzyme Q10 deficiency, primary, 3	biolink:Disease	mondo	OMIM:614652|DOID:0070240|UMLS:C3553358		coenzyme Q10 deficiency, primary, 3; COQ10D3|coenzyme Q10 deficiency, primary, 3|PDSS2 coenzyme Q10 deficiency|COQ10D3|coenzyme Q10 deficiency, primary, type 3|coenzyme Q10 deficiency caused by mutation in PDSS2	http://purl.obolibrary.org/obo/MONDO_0013838	Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the PDSS2 gene.	UMLS:C3553358|DOID:0070240|http://identifiers.org/omim/614652
MONDO:0013835	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7	biolink:Disease	mondo	UMLS:C3553330|DOID:0111234|OMIM:614643		ISPD muscular dystrophy-dystroglycanopathy, type A|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7|Walker-Warburg syndrome or muscle-eye-brain disease, ISPD-related|MDDGA7|muscular dystrophy-dystroglycanopathy, type A caused by mutation in ISPD|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; MDDGA7	http://purl.obolibrary.org/obo/MONDO_0013835	Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the ISPD gene.	UMLS:C3553330|http://identifiers.org/omim/614643|DOID:0111234
MONDO:0013836	familial steroid-resistant nephrotic syndrome with sensorineural deafness	biolink:Disease	mondo	Orphanet:280406|UMLS:C3553349|ICD10:N04.8|OMIM:614650|DOID:0070243	ordo_disease	coenzyme Q10 deficiency, primary, 6; COQ10D6|coenzyme Q10 deficiency, primary, type 6|coenzyme Q10 deficiency, primary, 6|COQ10D6	http://purl.obolibrary.org/obo/MONDO_0013836		UMLS:C3553349|ORPHA:280406|DOID:0070243|http://identifiers.org/omim/614650
MONDO:0013839	hereditary sensory and autonomic neuropathy type 6	biolink:Disease	mondo	DOID:0070151|ICD10:G60.8|Orphanet:314381|UMLS:C3539003|OMIM:614653	ordo_disease	hereditary sensory and autonomic neuropathy type VI|familial dysautonomia with contractures|HSAN 6|neuropathy, hereditary sensory and autonomic, type VI|DST hereditary sensory and autonomic neuropathy|HSAN6|neuropathy, hereditary sensory and autonomic, type 6|neuropathy, hereditary sensory and autonomic, type VI; HSAN6|hereditary sensory and autonomic neuropathy caused by mutation in DST	http://purl.obolibrary.org/obo/MONDO_0013839	Any hereditary sensory and autonomic neuropathy in which the cause of the disease is a mutation in the DST gene.	ORPHA:314381|DOID:0070151|http://identifiers.org/omim/614653|UMLS:C3539003
BSPO:0015101	in_dorsal_side_of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BSPO_0015101		
MONDO:0013840	encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	biolink:Disease	mondo	ICD10:E88.8|Orphanet:319678|OMIM:614654|DOID:0070242|UMLS:C3553374	ordo_disease	coenzyme Q10 deficiency, primary, 5; COQ10D5|coenzyme Q10 deficiency, primary, type 5|coenzyme Q10 deficiency, primary, 5|COQ10D5	http://purl.obolibrary.org/obo/MONDO_0013840	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound.	DOID:0070242|http://identifiers.org/omim/614654|ORPHA:319678|UMLS:C3553374
MONDO:0013841	stuttering, familial persistent, 3	biolink:Disease	mondo	UMLS:C3553381|OMIM:614655		stuttering, familial persistent, 3|STUT3|stuttering, familial persistent, 3; STUT3	http://purl.obolibrary.org/obo/MONDO_0013841		http://identifiers.org/omim/614655|UMLS:C3553381
BSPO:0015102	in_ventral_side_of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BSPO_0015102		
MONDO:0013844	stuttering, familial persistent, 4	biolink:Disease	mondo	OMIM:614668|UMLS:C3553403		stuttering, familial persistent, 4; STUT4|stuttering, familial persistent, 4|STUT4	http://purl.obolibrary.org/obo/MONDO_0013844		http://identifiers.org/omim/614668|UMLS:C3553403
MONDO:0013845	auriculocondylar syndrome 2	biolink:Disease	mondo	OMIM:614669|UMLS:C3553404		ARCND2|AURICULOCONDYLAR syndrome 2; ARCND2|Auriculocondylar syndrome 2|PLCB4 auriculocondylar syndrome|Auriculocondylar syndrome type 2|auriculocondylar syndrome caused by mutation in PLCB4	http://purl.obolibrary.org/obo/MONDO_0013845	Any auriculocondylar syndrome in which the cause of the disease is a mutation in the PLCB4 gene.	UMLS:C3553404|http://identifiers.org/omim/614669
NCBITaxon:291484	Hepeviridae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_291484		
GO:0086065	cell communication involved in cardiac conduction	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0086065	Any process that mediates interactions between a cell and its surroundings that contributes to the process of cardiac conduction. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment.	
MONDO:0013842	cortisone reductase deficiency 2	biolink:Disease	mondo	UMLS:C3553382|NCIT:C131084|OMIM:614662|DOID:0090140		cortisone reductase deficiency 2; CORTRD2|11-beta-hydroxysteroid dehydrogenase type 1 deficiency|HSD11B1 cortisone reductase deficiency|CORTRD2|cortisone reductase deficiency caused by mutation in HSD11B1|cortisone reductase deficiency 2|cortisone reductase deficiency type 2	http://purl.obolibrary.org/obo/MONDO_0013842	Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency.	http://identifiers.org/omim/614662|NCIT:C131084|DOID:0090140|UMLS:C3553382
MONDO:0013843	intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency	biolink:Disease	mondo	ICD10:P76.0|Orphanet:314376|SCTID:733447005|OMIM:614665|ICD9:777.1|COHD:193591	ordo_disease	meconium ileus|meconium ileus caused by mutation in GUCY2C|meconium ileus due to guanylate cyclase 2C deficiency|GUCY2C meconium ileus	http://purl.obolibrary.org/obo/MONDO_0013843	Any meconium ileus in which the cause of the disease is a mutation in the GUCY2C gene.	SNOMEDCT:733447005|http://identifiers.org/omim/614665|ORPHA:314376
UBERON:0009483	mesentery of foregut-midgut junction	biolink:AnatomicalEntity	mondo			foregut-midgut junction mesentery	http://purl.obolibrary.org/obo/UBERON_0009483	A mesentery that is part of a foregut-midgut junction.	
MONDO:0001869	paraurethral gland cancer	biolink:Disease	mondo	DOID:14059|ICD9:189.4|UMLS:C0153621|SCTID:363460002|ICD10:C68.1		malignant tumor of the paraurethral gland|cancer of paraurethral gland|paraurethral gland cancer|malignant tumor of paraurethral gland|malignant neoplasm of paraurethral gland|malignant paraurethral gland neoplasm	http://purl.obolibrary.org/obo/MONDO_0001869	A malignant neoplasm involving the paraurethral gland.	SNOMEDCT:363460002|UMLS:C0153621|DOID:14059
MONDO:0001868	primary angle-closure glaucoma	biolink:Disease	mondo	SCTID:392288006|COHD:435543|EFO:1001506|DOID:1405|UMLS:C0017606|ICD9:365.2|NCIT:C34640|ICD10:H40.20|ICD9:365.20|ICD10:H40.2		primary angle closure glaucoma	http://purl.obolibrary.org/obo/MONDO_0001868	An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component.	DOID:1405|UMLS:C0017606|NCIT:C34640|SNOMEDCT:392288006
MONDO:0001867	phaeohyphomycosis	biolink:Disease	mondo	DOID:14049|SCTID:47158003|GARD:0012803|ICD9:117.8|COHD:438365|MESH:D060446	gard_rare	infection by dematiacious fungi [Phaehyphomycosis]|phaehyphomycosis|infection by dematiacious fungi	http://purl.obolibrary.org/obo/MONDO_0001867	An opportunistic fungal infection caused by any of a variety of normally saprophytic fungi with hyaline hyphal elements. For example, Fusarium spp. infect neutropenic patients to cause pneumonia, fungemia, and disseminated infection with cutaneous lesions.	SNOMEDCT:47158003|MESH:D060446|DOID:14049
MONDO:0037870	valine metabolism disease	biolink:Disease	mondo	SCTID:444756000|UMLS:C2919304		valine metabolic process disease|disorder of valine metabolic process|disorder of valine metabolic process|disorder of valine metabolism	http://purl.obolibrary.org/obo/MONDO_0037870	A disease that has its basis in the disruption of valine metabolic process.	SNOMEDCT:444756000|UMLS:C2919304
MONDO:0037871	amino acid metabolism disease	biolink:Disease	mondo	SCTID:44779003|NCIT:C97090		amino acid disorder|disorder of cellular amino acid metabolic process|disorder of cellular amino acid metabolic process|amino acid metabolism disorder|cellular amino acid metabolic process disease|disorder of amino acid metabolism|amino acidopathy	http://purl.obolibrary.org/obo/MONDO_0037871	A disease that has its basis in the disruption of cellular amino acid metabolic process.	SNOMEDCT:44779003|NCIT:C97090
MONDO:0037872	bordetellosis	biolink:Disease	mondo	MESH:D001885|EFO:1001275|ICD9:041.85|SCTID:26484003|UMLS:C0006015		Infections, Bordetella|Bordetella Infection|Bordetellosis|Bordetella infectious disease|Bordetella caused disease or disorder|bordetellosis|Bordetella infection|Bordetella Infections|Bordetella disease or disorder|INFECT BORDETELLA|Infection, Bordetella	http://purl.obolibrary.org/obo/MONDO_0037872	Any disease caused by infection with organisms of the genus Bordetella.	UMLS:C0006015|SNOMEDCT:26484003|MESH:D001885
MONDO:0023232	giant cell myocarditis	biolink:Disease	mondo	GARD:0006502|SCTID:60812006|UMLS:C0264856|NCIT:C97055	gard_rare	giant cell myocarditis|idiopathic giant-cell myocarditis|GCM	http://purl.obolibrary.org/obo/MONDO_0023232	An often fatal inflammatory disorder that affects the myocardium. Morphologically, it is characterized by the presence of an inflammatory infiltrate in the myocardial tissue that includes multinucleated giant cells. It is often associated with the presence of an autoimmune disorder. Patients present with arrhythmias and/or heart failure. Heart transplantation is the only treatment option available.	UMLS:C0264856|NCIT:C97055|SNOMEDCT:60812006
MONDO:0023235	giant congenital nevus	biolink:Disease	mondo	GARD:0002469|ICDO:8761/1|SCTID:254815002|NCIT:C4234	gard_rare	giant hairy nevus|congenital hairy nevus|giant pigmented Nevus of skin|giant pigmented Nevus of the skin|giant congenital melanocytic nevus|GPHN|bathing trunk Nevus|giant pigmented hairy nevus|congenital giant pigmented nevus|giant congenital Nevus|bathing trunk nevus|large congenital melanocytic nevus|giant pigmented nevus	http://purl.obolibrary.org/obo/MONDO_0023235	A rare melanocytic lesion occurring at birth, comprising at least 5% of the body surface area. It usually presents as a dark brown to black hairy lesion. Morphologically, it is characterized by the presence of a compound or intradermal nevus. There is an increased risk of malignant transformation to melanoma, rhabdomyosarcoma, and poorly differentiated malignant tumors.	SNOMEDCT:254815002|NCIT:C4234
MONDO:0023238	giant mammary hamartoma	biolink:Disease	mondo	UMLS:C2931343|MESH:C536818|GARD:0000208	gard_rare	giant hamartoma of the breast	http://purl.obolibrary.org/obo/MONDO_0023238		MESH:C536818|UMLS:C2931343
HGNC:10669	TSHZ1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10669		
MONDO:0023230	Ghose-Sachdev-Kumar syndrome	biolink:Disease	mondo	GARD:0002467|UMLS:C2974016|MESH:C537803	gard_rare	bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma	http://purl.obolibrary.org/obo/MONDO_0023230		UMLS:C2974016|MESH:C537803
MONDO:0011254	brachydactyly, intraventricular septal defect, and deafness	biolink:Disease	mondo	MESH:C566521|OMIM:602561|UMLS:C1865182		brachydactyly, intraventricular septal defect, and deafness	http://purl.obolibrary.org/obo/MONDO_0011254		UMLS:C1865182|http://identifiers.org/omim/602561|MESH:C566521
MONDO:0011253	craniomicromelic syndrome	biolink:Disease	mondo	SCTID:725098001|Orphanet:1524|GARD:0001583|OMIM:602558|UMLS:C1865184|ICD10:Q87.0|MESH:C566522	ordo_malformation_syndrome|gard_rare	craniomicromelic syndrome	http://purl.obolibrary.org/obo/MONDO_0011253	Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly.	UMLS:C1865184|SNOMEDCT:725098001|http://identifiers.org/omim/602558|ORPHA:1524|MESH:C566522
MONDO:0011256	emphysema, congenital, with deafness, penoscrotal web, and mental retardation	biolink:Disease	mondo	OMIM:602564|UMLS:C1865180|MESH:C566519		emphysema, congenital, with deafness, penoscrotal web, and intellectual disability|emphysema, congenital, with deafness, penoscrotal web, and mental retardation	http://purl.obolibrary.org/obo/MONDO_0011256		MESH:C566519|UMLS:C1865180|http://identifiers.org/omim/602564
HGNC:10672	CXCL12	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10672		
MONDO:0011255	mandibulofacial dysostosis-macroblepharon-macrostomia syndrome	biolink:Disease	mondo	MESH:C566520|Orphanet:357158|ICD10:Q87.0|UMLS:C1865181|OMIM:602562	ordo_disease	mandibulofacial dysostosis with macroblepharon and macrostomia|Verloes-Lesenfants syndrome|macroblepharon, ectropion, hypertelorism, and macrostomia|macroblepharon-ectropion-hypertelorism-macrostomia syndrome	http://purl.obolibrary.org/obo/MONDO_0011255		UMLS:C1865181|http://identifiers.org/omim/602562|MESH:C566520|ORPHA:357158
MONDO:0011258	branchiootic syndrome 1	biolink:Disease	mondo	OMIM:602588|UMLS:C1865143		branchiootic syndrome type 1|bo syndrome 1|EYA1 branchiootic syndrome|branchiootic syndrome 1; BOS1|branchiootic dysplasia|anterior segment anomalies with or without cataract|branchiootic syndrome caused by mutation in EYA1|branchiootic syndrome 1|BOS1	http://purl.obolibrary.org/obo/MONDO_0011258	Any branchiootic syndrome in which the cause of the disease is a mutation in the EYA1 gene.	UMLS:C1865143|http://identifiers.org/omim/602588
MONDO:0011257	MPI-CDG	biolink:Disease	mondo	ICD10:E77.8|MESH:C535740|ICD9:277.6|Orphanet:79319|OMIM:602579|SCTID:124668009|GARD:0009830|DOID:0080554	ordo_disease	SLSJ syndrome|Mannosephosphate isomerase deficiency|CDG gastrointestinal type|congenital disorder of glycosylation type 1b|carbohydrate deficient glycoprotein syndrome type IB|CDG-Ib|carbohydrate-deficient glycoprotein syndrome type 1B|CDG 1B|CDG Ib|Mpi deficiency|Slsj syndrome|congenital disorder of glycosylation, type IB; CDG1B|CDG, gastrointestinal type|CDG syndrome type IB|congenital disorder of glycosylation type IB|phosphomannose isomerase deficiency|Saguenay Lac Saint Jean syndrome|CDG1B|Protein-losing enteropathy-hepatic fibrosis syndrome|Saguenay-Lac Saint-Jean syndrome|congenital disorder of glycosylation, type IB|MPI-CDG (CDG-Ib)	http://purl.obolibrary.org/obo/MONDO_0011257	(15q24.1).	DOID:0080554|SNOMEDCT:124668009|ORPHA:79319|MESH:C535740|http://identifiers.org/omim/602579
MONDO:0011259	retinitis pigmentosa 22	biolink:Disease	mondo	UMLS:C3887981|ICD10:H35.5|DOID:0110400|GARD:0010393|OMIM:602594	gard_rare	RP 22|retinitis pigmentosa type 22|retinitis pigmentosa 22; RP22|RP22|retinitis pigmentosa 22	http://purl.obolibrary.org/obo/MONDO_0011259	A retinitis pigmentosa that has material basis in variation in the chromosome region 16p12.3-p12.1.	UMLS:C3887981|DOID:0110400|http://identifiers.org/omim/602594
MONDO:0011250	microcephaly, macrotia, and mental retardation	biolink:Disease	mondo	UMLS:C1865204|MESH:C566525|OMIM:602555		microcephaly, macrotia, and intellectual disability|microcephaly, macrotia, and mental retardation	http://purl.obolibrary.org/obo/MONDO_0011250		UMLS:C1865204|http://identifiers.org/omim/602555|MESH:C566525
HGNC:10671	SDCCAG8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10671		
MONDO:0011252	spondyloepimetaphyseal dysplasia, Shohat type	biolink:Disease	mondo	ICD10:Q77.7|UMLS:C1865185|GARD:0004980|Orphanet:93352|OMIM:602557|MESH:C566523|SCTID:719201004	ordo_disease|gard_rare	spondyloepimetaphyseal dysplasia, Shohat type|SEMD, Shohat type|spondyloepimetaphyseal dysplasia, Shohat type; SEMDSH|SEMDSH|spondyloepimetaphyseal dysplasia Shohat type|SEMD Shohat type	http://purl.obolibrary.org/obo/MONDO_0011252	Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.	SNOMEDCT:719201004|UMLS:C1865185|ORPHA:93352|http://identifiers.org/omim/602557|MESH:C566523
MONDO:0011251	facial dysmorphism, cleft palate, hearing loss, and camptodactyly	biolink:Disease	mondo	UMLS:C1865203|MESH:C566524|OMIM:602556		facial dysmorphism, cleft palate, hearing loss, and camptodactyly	http://purl.obolibrary.org/obo/MONDO_0011251		UMLS:C1865203|http://identifiers.org/omim/602556|MESH:C566524
MONDO:0023221	Gaucher ichthyosis restrictive dermopathy	biolink:Disease	mondo	GARD:0002444	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023221		
HGNC:19012	CORIN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19012		
HGNC:20001	PCSK9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20001		
MONDO:0023224	inherited reflex epilepsy	biolink:Disease	mondo	GARD:0002455	gard_rare	hereditary reflex epilepsy	http://purl.obolibrary.org/obo/MONDO_0023224	An instance of reflex epilepsy that is caused by an inherited modification of the individual's genome.	
MONDO:0023226	gershinibaruch Leibo syndrome	biolink:Disease	mondo	GARD:0002464	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023226		
MONDO:0023227	gestational diabetes insipidus	biolink:Disease	mondo	UMLS:C2932666|MESH:C548014|GARD:0010702	gard_rare	diabetes insipidus gestational|Gestagenic diabetes insipidus	http://purl.obolibrary.org/obo/MONDO_0023227	A form of diabetes insipidus that manifests during pregnancy (or in some cases, after pregnancy). It is characterized by theappearance of a polyuric-polydipsic syndrome that resultsin fluid intake ranging from 3 to 20 L/day. It is also charac-terized by excretion of abnormally high volumes of dilutedurine. This polyuria is insipid, i.e., the urine concentrationof dissolved substances is very low.	MESH:C548014|UMLS:C2932666
MONDO:0011239	colobomatous macrophthalmia-microcornea syndrome	biolink:Disease	mondo	UMLS:C1865286|MESH:C566533|OMIM:602499|Orphanet:468672	ordo_disease	macrophthalmia, colobomatous, with microcornea|MACOM|macrophthalmia, colobomatous, with microcornea; MACOM|MACOM syndrome	http://purl.obolibrary.org/obo/MONDO_0011239		ORPHA:468672|MESH:C566533|UMLS:C1865286|http://identifiers.org/omim/602499
MONDO:0037807	glycerol metabolism disease	biolink:Disease	mondo	SCTID:237977000|UMLS:C0342762		disorder of glycerol metabolic process|disorder of glycerol metabolic process|glycerol metabolic process disease|disorder of glycerol metabolism	http://purl.obolibrary.org/obo/MONDO_0037807	A disease that has its basis in the disruption of glycerol metabolic process.	UMLS:C0342762|SNOMEDCT:237977000
MONDO:0011243	grange syndrome	biolink:Disease	mondo	OMIM:602531|Orphanet:79094|ICD10:Q87.8|UMLS:C1865267|SCTID:717824007|MESH:C566529	ordo_malformation_syndrome	grange syndrome; GRNG|arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly|GRNG|progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome|grange occlusive arterial syndrome	http://purl.obolibrary.org/obo/MONDO_0011243	Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.	MESH:C566529|ORPHA:79094|UMLS:C1865267|http://identifiers.org/omim/602531|SNOMEDCT:717824007
MONDO:0011242	Bartter disease type 4a	biolink:Disease	mondo	UMLS:C1865270|SCTID:717791000|OMIM:602522|DOID:0110145|ICD10:E26.8		BSND|Bartter syndrome caused by mutation in BSND|neonatal Bartter syndrome with sensorineural deafness|Bartter syndrome type 4a|BARTS4A|Bartter syndrome, type 4A, neonatal, with sensorineural deafness|Bartter syndrome, type 4A|BSND Bartter syndrome|Bartter syndrome, infantile, with sensorineural deafness|Bartter syndrome, neonatal, with sensorineural deafness|Bartter syndrome, type 4A, neonatal, with sensorineural deafness; BARTS4A|sensorineural deafness with mild renal dysfunction	http://purl.obolibrary.org/obo/MONDO_0011242	Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene.	DOID:0110145|UMLS:C1865270|http://identifiers.org/omim/602522|SNOMEDCT:717791000
MONDO:0011245	ichthyosis, hystrix-like, with deafness	biolink:Disease	mondo	OMIM:602540|UMLS:C1865234|MESH:C566528		Hid syndrome|ichthyosis, hystrix-like, with deafness	http://purl.obolibrary.org/obo/MONDO_0011245		MESH:C566528|UMLS:C1865234|http://identifiers.org/omim/602540
HGNC:10683	SDHD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10683		
MONDO:0011244	Marshall-Smith syndrome	biolink:Disease	mondo	MESH:C536026|ICD10:Q87.3|OMIM:602535|GARD:0006985|Orphanet:561|SCTID:73284007|ICD9:759.89|DOID:0050858|UMLS:C0265211	gard_rare|ordo_malformation_syndrome	accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome|MRSHSS|Marshall-SMITH syndrome; MRSHSS|Marshall-Smith syndrome	http://purl.obolibrary.org/obo/MONDO_0011244	Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.	MESH:C536026|UMLS:C0265211|ORPHA:561|DOID:0050858|http://identifiers.org/omim/602535|SNOMEDCT:73284007
MONDO:0011247	jejunal atresia with renal adysplasia	biolink:Disease	mondo	UMLS:C1865209|MESH:C537567|OMIM:602551|GARD:0009985	gard_rare	jejunal atresia with renal adysplasia	http://purl.obolibrary.org/obo/MONDO_0011247		MESH:C537567|UMLS:C1865209|http://identifiers.org/omim/602551
MONDO:0011246	megaconial type congenital muscular dystrophy	biolink:Disease	mondo	ICD10:G71.2|OMIM:602541|DOID:0110632|Orphanet:280671|GARD:0010317|UMLS:C1865233|MESH:C566527	ordo_disease|gard_rare	muscular dystrophy, congenital, with mitochondrial structural abnormalities|muscular dystrophy, congenital, megaconial type|megaconial congenital muscular dystrophy|congenital muscular dystrophy with mitochondrial structural abnormalities|congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect|muscular dystrophy, congenital, megaconial type; MDCMC|MDCMC|congenital megaconial myopathy|megaconial congénital muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0011246		MESH:C566527|DOID:0110632|UMLS:C1865233|ORPHA:280671|http://identifiers.org/omim/602541
MONDO:0011249	torsion dystonia with onset in infancy	biolink:Disease	mondo	DOID:0090058|UMLS:C1865205|OMIM:602554|ICD10:G24.1|MESH:C536969		torsion dystonia with onset in infancy|torsion dystonia with onset in infancy	http://purl.obolibrary.org/obo/MONDO_0011249	A dystonia characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy.	DOID:0090058|MESH:C536969|UMLS:C1865205|http://identifiers.org/omim/602554
MONDO:0011248	distal monosomy 13q	biolink:Disease	mondo	OMIM:602553|SCTID:763527007|ICD10:Q93.5|UMLS:C1865208|Orphanet:1590|MESH:C566526	ordo_malformation_syndrome	distal 13q deletion|anal atresia, hypospadias, and penoscrotal inversion|deletion 13q32|monosomy 13q32|distal monosomy type 13q|telomeric deletion13q|13q32 deletion	http://purl.obolibrary.org/obo/MONDO_0011248	Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported.	MESH:C566526|ORPHA:1590|SNOMEDCT:763527007|UMLS:C1865208|http://identifiers.org/omim/602553|UMLS:C2930913
HP:0012415	Abnormal blood gas level	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:312391003|UMLS:C0476337		Abnormal blood gas level	http://purl.obolibrary.org/obo/HP_0012415	An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood.	
HP:0012418	Hypoxemia	biolink:PhenotypicFeature	mondo	UMLS:C0700292|SNOMEDCT_US:389087006|MSH:D000860		Hypoxia|Low blood oxygen level	http://purl.obolibrary.org/obo/HP_0012418	An abnormally low level of blood oxygen.	
HGNC:10681	SDHB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10681		
HGNC:19016	TRIM44	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19016		
HGNC:10682	SDHC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10682		
MONDO:0011241	pseudoacromegaly with severe insulin resistance	biolink:Disease	mondo	OMIM:602511|MESH:C566531|UMLS:C1865284		pseudoacromegaly with severe insulin resistance	http://purl.obolibrary.org/obo/MONDO_0011241		UMLS:C1865284|http://identifiers.org/omim/602511|MESH:C566531
MONDO:0011240	megalencephaly-capillary malformation-polymicrogyria syndrome	biolink:Disease	mondo	SCTID:703370002|ICD10:Q87.3|ICD9:759.89|MESH:C536142|GARD:0006950|OMIM:602501|Orphanet:60040|UMLS:C1865285	ordo_malformation_syndrome	MCMTC|megalencephaly-capillary malformation syndrome|megalencephaly-capillary malformation-polymicrogyria syndrome|macrocephaly cutis marmorata telangiectatica congenita|MCAP|macrocephaly-cutis marmorata telangiectatica congenita|megalencephaly-capillary malformation-polymicrogyria syndrome; MCAP|megalencephaly-cutis marmorata telangiectatica congenita syndrome|macrocephaly-capillary malformation syndrome|M-CM|megalencephaly cutis marmorata telangiectatica congenita|M-CMTC|megalocephaly cutis marmorata telangiectatica congenita|macrocephaly-capillary malformation|megalencephaly-cutis marmorata telangiectatica congenita|macrocephaly-cutis marmorata telangiectatica congenita syndrome|MCM	http://purl.obolibrary.org/obo/MONDO_0011240	Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.	SNOMEDCT:703370002|UMLS:C1865285|http://identifiers.org/omim/602501|ORPHA:60040|MESH:C536142
HGNC:10680	SDHA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10680		
MONDO:0023211		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0023211		
MONDO:0023212	Garret-Tripp syndrome	biolink:Disease	mondo	MESH:C535646|GARD:0002435|UMLS:C2930965	gard_rare	intellectual disability with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip|Intellecutal disability with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip|polydactyly alopecia seborrheic dermatitis|mental retardation with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip|Garret Tripp syndrome	http://purl.obolibrary.org/obo/MONDO_0023212		MESH:C535646|UMLS:C2930965
MONDO:0023214	gas bloat syndrome	biolink:Disease	mondo	MESH:C535647|UMLS:C2930966|GARD:0006484	gard_rare	post-fundoplication syndrome	http://purl.obolibrary.org/obo/MONDO_0023214		MESH:C535647|UMLS:C2930966
MONDO:0023217	obsolete gastro-enteropancreatic neuroendocrine tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0023217		
MONDO:0011229	ethylmalonic encephalopathy	biolink:Disease	mondo	UMLS:C1865349|SCTID:723307008|ICD10:G31.8|Orphanet:51188|DOID:0060640|OMIM:602473|GARD:0002198|MESH:C535737	ordo_disease|gard_rare	encephalopathy, petechiae, and ethylmalonic aciduria|encephalopathy, ethylmalonic|EE|EPEMA syndrome|encephalopathy, ethylmalonic; EE|syndrome of encephalopathy, petechiae, and ethylmalonic aciduria|eme	http://purl.obolibrary.org/obo/MONDO_0011229	Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.	http://identifiers.org/omim/602473|SNOMEDCT:723307008|MESH:C535737|UMLS:C1865349|DOID:0060640|ORPHA:51188
MONDO:0011228	creases, infra-auricular cutaneous, with tall stature and advanced bone age	biolink:Disease	mondo	UMLS:C1865360|MESH:C566543|OMIM:602472		creases, infra-auricular cutaneous, with tall stature and advanced bone age	http://purl.obolibrary.org/obo/MONDO_0011228		http://identifiers.org/omim/602472|MESH:C566543|UMLS:C1865360
HGNC:10648	AIMP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10648		
MONDO:0011232	migraine, familial hemiplegic, 2	biolink:Disease	mondo	DOID:0111182|UMLS:C1865322|GARD:0010095|OMIM:602481		hemiplegic migraine, familial type 2|migraine, familial hemiplegic, 2; FHM2|migraine, familial basilar|migraine, familial hemiplegic, type 2|familial or sporadic hemiplegic migraine caused by mutation in ATP1A2|Mhp2|FHM2|familial hemiplegic migraine type 2|migraine, familial hemiplegic, 2|ATP1A2 familial or sporadic hemiplegic migraine	http://purl.obolibrary.org/obo/MONDO_0011232	Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the ATP1A2 gene.	DOID:0111182|UMLS:C1865322|http://identifiers.org/omim/602481
MONDO:0013895	Adams-Oliver syndrome 3	biolink:Disease	mondo	UMLS:C3553748|OMIM:614814		Adams-Oliver syndrome caused by mutation in RBPJ|Adams-Oliver syndrome 3; AOS3|AOS3|RBPJ Adams-Oliver syndrome|Adams-Oliver syndrome type 3|Adams-Oliver syndrome 3	http://purl.obolibrary.org/obo/MONDO_0013895	Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the RBPJ gene.	UMLS:C3553748|http://identifiers.org/omim/614814
MONDO:0011231	FEB2	biolink:Disease	mondo	OMIM:602477|MESH:C566541|DOID:0111310|UMLS:C1865342		convulsions, familial febrile, 2|febrile seizures, familial, 2; FEB2|FEB2|febrile seizures, familial, 2	http://purl.obolibrary.org/obo/MONDO_0011231		MESH:C566541|DOID:0111310|UMLS:C1865342|http://identifiers.org/omim/602477
MONDO:0013896	Joubert syndrome 18	biolink:Disease	mondo	DOID:0110987|UMLS:C3553758|OMIM:614815		Joubert syndrome 18; JBTS18|TCTN3 Joubert syndrome|Joubert syndrome caused by mutation in TCTN3|Joubert syndrome type 18|Joubert syndrome 18|JBTS18	http://purl.obolibrary.org/obo/MONDO_0013896	Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN3 gene.	DOID:0110987|UMLS:C3553758|http://identifiers.org/omim/614815
MONDO:0013893	multiple sclerosis, susceptibility to, 5	biolink:Disease	mondo	OMIM:614810	predisposition	multiple sclerosis, susceptibility to caused by mutation in TNFRSF1A|TNFRSF1A multiple sclerosis, susceptibility to|multiple sclerosis, susceptibility to, type 5|MS5|multiple sclerosis, susceptibility to, 5; MS5|susceptibility to multiple sclerosis 5|multiple sclerosis, susceptibility to, 5	http://purl.obolibrary.org/obo/MONDO_0013893	Any multiple sclerosis, susceptibility to in which the cause of the disease is a mutation in the TNFRSF1A gene.	http://identifiers.org/omim/614810
MONDO:0011234	auriculocondylar syndrome 1	biolink:Disease	mondo	OMIM:602483		GNAI3 auriculocondylar syndrome|ARCND1|question Mark ears syndrome|Auriculocondylar syndrome 1|AURICULOCONDYLAR syndrome 1; ARCND1|auriculocondylar syndrome caused by mutation in GNAI3|Auriculocondylar syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0011234	Any auriculocondylar syndrome in which the cause of the disease is a mutation in the GNAI3 gene.	http://identifiers.org/omim/602483
MONDO:0037821	porphyrin metabolism disease	biolink:Disease	mondo	SCTID:29094004		porphyrin-containing compound metabolic process disease|disorder of porphyrin and heme metabolism|disorder of porphyrin-containing compound metabolic process|disorder of porphyrin-containing compound metabolic process|disorder of porphyrin metabolism	http://purl.obolibrary.org/obo/MONDO_0037821	A disease that has its basis in the disruption of porphyrin-containing compound metabolic process.	SNOMEDCT:29094004
MONDO:0011233	Axenfeld-Rieger syndrome type 3	biolink:Disease	mondo	ICD10:Q13.8|ICD9:743.44|DOID:0110122|SCTID:22155002|OMIM:602482		RIEG3|Axenfeld-Rieger syndrome, type 3|Axenfeld-Rieger anomaly|Axenfeld-Rieger syndrome, type 3; RIEG3|anterior chamber cleavage syndrome|Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss|anterior segment mesenchymal dysgenesis|Rieger syndrome, type 3|Axenfeld-Rieger syndrome caused by mutation in FOXC1|Axenfeld anomaly|Axenfeld-Rieger anomaly with Cardiac defects and/Or sensorineural hearing loss|anterior chamber Cleavage syndrome|Rieger anomaly|Rieger syndrome type 3|Axenfeld-Rieger anomaly with or without Cardiac defects and/or sensorineural hearing loss|FOXC1 Axenfeld-Rieger syndrome	http://purl.obolibrary.org/obo/MONDO_0011233	Any Axenfeld-Rieger syndrome in which the cause of the disease is a mutation in the FOXC1 gene.	SNOMEDCT:22155002|DOID:0110122|http://identifiers.org/omim/602482
MONDO:0013894	short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	biolink:Disease	mondo	ICD10:Q87.1|Orphanet:314394|OMIM:614813|UMLS:C3542022	ordo_disease	soft syndrome|short stature, onychodysplasia, facial dysmorphism, and hypotrichosis; soft|soft|short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	http://purl.obolibrary.org/obo/MONDO_0013894		UMLS:C3542022|ORPHA:314394|http://identifiers.org/omim/614813
MONDO:0011236	hyperinsulinism due to glucokinase deficiency	biolink:Disease	mondo	DOID:0070216|GARD:0002818|OMIM:602485|GARD:0009930|ICD10:E16.1|SCTID:717182006|MESH:C538374|Orphanet:79299	ordo_disease|gard_rare	hyperinsulinemic hypoglycemia, familial, 3|hyperinsulinemic hypoglycemia familial 3|hyperinsulinemic hypoglycemia, familial, 3; HHF3|hyperinsulinemic hypoglycemia, familial, type 3|hyperinsulinemic hypoglycemia due to glucokinase deficiency|HHF3	http://purl.obolibrary.org/obo/MONDO_0011236	Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism, caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae.	MESH:C538374|SNOMEDCT:717182006|ORPHA:79299|http://identifiers.org/omim/602485|DOID:0070216
MONDO:0013899	Weill-Marchesani syndrome 3	biolink:Disease	mondo	UMLS:C3553785|OMIM:614819		Weill-Marchesani syndrome 3; WMS3|Weill-Marchesani syndrome type 3|LTBP2 Weill-Marchesani syndrome|Weill-Marchesani syndrome caused by mutation in LTBP2|WMS3|Weill-Marchesani syndrome 3	http://purl.obolibrary.org/obo/MONDO_0013899	Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the LTBP2 gene.	UMLS:C3553785|http://identifiers.org/omim/614819
MONDO:0011235	pelvic dysplasia-arthrogryposis of lower limbs syndrome	biolink:Disease	mondo	OMIM:602484|Orphanet:2840|GARD:0004269|UMLS:C1865294	ordo_malformation_syndrome	Ray-Peterson-Scott syndrome|pelvic dysplasia arthrogryposis of lower limbs|pelvic hypoplasia with arthrogryposis of lower limbs|pelvic hypoplasia with LOWER-limb arthrogryposis|pelvic hypoplasia with lower limb arthrogryposis	http://purl.obolibrary.org/obo/MONDO_0011235		ORPHA:2840|MESH:C535292|MESH:C535548|UMLS:C1865294|http://identifiers.org/omim/602484|UMLS:C2930869
MONDO:0013897	Loeys-Dietz syndrome 4	biolink:Disease	mondo	GARD:0010588|DOID:0070233|OMIM:614816|UMLS:C3553762		aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations|Loeys-Dietz syndrome 4|Loeys-Dietz syndrome 4; LDS4|Loeys-Dietz syndrome type 4|Loeys-Dietz syndrome caused by mutation in TGFB2|LDS4|TGFB2 Loeys-Dietz syndrome	http://purl.obolibrary.org/obo/MONDO_0013897	Any Loeys-Dietz syndrome in which the cause of the disease is a mutation in the TGFB2 gene.	UMLS:C3553762|DOID:0070233|http://identifiers.org/omim/614816
MONDO:0011238	chondrodysplasia punctata, brachytelephalangic, autosomal	biolink:Disease	mondo	OMIM:602497		brachytelephalangic chondrodysplasia punctata|chondrodysplasia punctata, brachytelephalangic, autosomal	http://purl.obolibrary.org/obo/MONDO_0011238		http://identifiers.org/omim/602497
MONDO:0011237	hyperlipidemia, combined, 1	biolink:Disease	mondo	MESH:C566535|UMLS:C1865289|OMIM:602491		hyperlipidemia, combined, type 1|USF1 familial combined hyperlipidemia|hyperlipidemia, familial combined, 1|hyplip1|hyperlipidemia, combined, 1|familial combined hyperlipidemia caused by mutation in USF1	http://purl.obolibrary.org/obo/MONDO_0011237	Any familial combined hyperlipidemia in which the cause of the disease is a mutation in the USF1 gene.	MESH:C566535|UMLS:C1865289|http://identifiers.org/omim/602491
MONDO:0013898	karyomegalic interstitial nephritis	biolink:Disease	mondo	GARD:0011003|Orphanet:401996|UMLS:C3553774|OMIM:614817|DOID:0060911|ICD10:N11.8	gard_rare|ordo_disease	interstitial nephritis caused by mutation in FAN1|kin|FAN1 interstitial nephritis|KMIN|systemic karyomegaly|interstitial nephritis, karyomegalic; KMIN|interstitial nephritis, karyomegalic	http://purl.obolibrary.org/obo/MONDO_0013898	Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene.	ORPHA:401996|UMLS:C3553774|DOID:0060911|http://identifiers.org/omim/614817
MONDO:0023208	Fuqua Berkovitz syndrome	biolink:Disease	mondo	GARD:0002415	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023208		
CARO:0001000	multi-cell-part structure	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/CARO_0001000		
MONDO:0023209	galactorrhoea-hyperprolactinaemia	biolink:Disease	mondo	GARD:0008400|MESH:C535402	gard_rare	galactorrhoea-hyperprolactinaemia|hyperprolactinaemia|galactorrhea-hyperprolactinemia	http://purl.obolibrary.org/obo/MONDO_0023209		MESH:C535402
NCBITaxon:76804	Nidovirales	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_76804		
MONDO:0013891	amyotrophic lateral sclerosis type 18	biolink:Disease	mondo	UMLS:C3553719|DOID:0060209|OMIM:614808		amyotrophic lateral sclerosis 18; ALS18|ALS18|amyotrophic lateral sclerosis 18|PFN1 amyotrophic lateral sclerosis|amyotrophic lateral sclerosis type 18|amyotrophic lateral sclerosis caused by mutation in PFN1	http://purl.obolibrary.org/obo/MONDO_0013891	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the PFN1 gene.	DOID:0060209|UMLS:C3553719|http://identifiers.org/omim/614808
NCBITaxon:76803	Arteriviridae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_76803		
MONDO:0013892	C3 glomerulonephritis	biolink:Disease	mondo	NCIT:C123043|OMIM:614809|ICD10:N00.5|Orphanet:329931|UMLS:C3553720|UMLS:CN187045|UMLS:C4055342	ordo_histopathological_subtype	CFHR5 deficiency|complement-mediated membranoproliferative glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0013892	Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease.	UMLS:CN187045|ORPHA:329931|UMLS:C4055342|UMLS:C3553720|NCIT:C123043|http://identifiers.org/omim/614809
MONDO:0011230	ossification of the posterior longitudinal ligament of the spine	biolink:Disease	mondo	SCTID:90448008|NCIT:C84975|EFO:0005895|OMIM:602475|MESH:C537143|GARD:0009699|UMLS:C1865343|DOID:0060887		ossification of the POSTERIOR longitudinal ligament of spine|OPLL|ossification of Posterior longitudinal ligament|ossification of the POSTERIOR longitudinal ligament of spine; OPLL	http://purl.obolibrary.org/obo/MONDO_0011230	A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms.	SNOMEDCT:90448008|UMLS:C1865343|DOID:0060887|http://identifiers.org/omim/602475|NCIT:C84975|MESH:C537143
CARO:0001001	neuron projection bundle	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/CARO_0001001		
MONDO:0013890	congenital myopathy with internal nuclei and atypical cores	biolink:Disease	mondo	Orphanet:319160|UMLS:C3553709|OMIM:614807|ICD10:G71.2|SCTID:764945007	ordo_disease	myopathy, centronuclear, 4|centronuclear myopathy type 4|myopathy, centronuclear, 4; CNM4|CNM4|myopathy, centronuclear, type 4	http://purl.obolibrary.org/obo/MONDO_0013890	Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.	UMLS:C3553709|ORPHA:319160|SNOMEDCT:764945007|http://identifiers.org/omim/614807
MONDO:0023200	Fryns Fabry Remans syndrome	biolink:Disease	mondo	GARD:0002407	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023200		
MONDO:0023201	Fryns Smeets Thiry syndrome	biolink:Disease	mondo	Orphanet:2058|GARD:0002409	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023201		ORPHA:2058
NCBITaxon:110618	Nectriaceae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_110618		
MONDO:0023203	Fuchs atrophia gyrata chorioideae et retinae	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0023203		
MONDO:0023204	Fukuda-Miyanomae-Nakata syndrome	biolink:Disease	mondo	UMLS:CN776933|GARD:0002411|Orphanet:2060|GARD:0006475	gard_rare	muscular dystrophy, congenital progressive, with intellectual disability|muscular dystrophy, congenital, with central nervous system involvement|muscular dystrophy, congenital, Fukuyama type|Cerebromuscular dystrophy, Fukuyama type|Fukuyama type muscular dystrophy|muscular dystrophy, congenital progressive, with mental retardation|FCMD	http://purl.obolibrary.org/obo/MONDO_0023204		ORPHA:2060|UMLS:CN776933
MONDO:0023206	functional pancreatic neuroendocrine tumor	biolink:Disease	mondo	NCIT:C45840|UMLS:C1708107|GARD:0002414|Orphanet:506060	ordo_group_of_disorders|gard_rare	functioning well-differentiated NEN of pancreas|functioning neuroendocrine tumor of pancreas|functional pancreatic neuroendocrine tumor|functioning well-differentiated neuroendocrine neoplasm of pancreas|functioning PNET|functioning well-differentiated pancreatic NEN|syndromic pancreatic neuroendocrine tumor|functioning well-differentiated pancreatic neuroendocrine neoplasm|functioning pancreatic endocrine tumor|syndromic pancreatic NET|functioning well differentiated pancreatic endocrine tumor|functioning pancreatic NET|functioning well differentiated pancreatic endocrine neoplasm|functioning pancreatic neuroendocrine tumor|functional pancreatic NET	http://purl.obolibrary.org/obo/MONDO_0023206	A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of a clinical syndrome that results from hormone hypersecretion.	UMLS:C1708107|NCIT:C45840|ORPHA:506060
MONDO:0011218	autosomal recessive congenital ichthyosis 11	biolink:Disease	mondo	MESH:C536273|OMIM:602400|UMLS:C1835851|GARD:0010116|DOID:0060720|Orphanet:91132|ICD10:Q80.8	ordo_disease	ichthyosis, congenital, autosomal recessive type 11|ichthyosis, congenital, autosomal recessive 11; ARCI11|ichthyosis with hypotrichosis, autosomal recessive|ichthyosis-hypotrichosis syndrome|ichthyosis, congenital, autosomal recessive 11|ichthyosis-follicular atrophoderma-hypotrichosis syndrome|ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome|ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis|autosomal recessive congenital ichthyosis type 11|ARIH|hypotrichosis-congenital ichthyosis syndrome|ARCI11|IFAH syndrome|autosomal recessive ichthyosis with hypotrichosis|IHS	http://purl.obolibrary.org/obo/MONDO_0011218		http://identifiers.org/omim/602400|UMLS:C1835851|ORPHA:91132|MESH:C536273|DOID:0060720
MONDO:0011217	desmosterolosis	biolink:Disease	mondo	ICD9:272.8|SCTID:709490002|MESH:C566555|OMIM:602398|ICD10:Q87.8|Orphanet:35107|UMLS:C1865596|GARD:0010283	ordo_disease|gard_rare	desmosterolosis	http://purl.obolibrary.org/obo/MONDO_0011217	Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.	http://identifiers.org/omim/602398|SNOMEDCT:709490002|MESH:C566555|ORPHA:35107|UMLS:C1865596
MONDO:0013879	pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2	biolink:Disease	mondo	OMIM:614743|UMLS:C3553622		pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2|pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 2|PFBMFT2|pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 2; PFBMFT2	http://purl.obolibrary.org/obo/MONDO_0013879		http://identifiers.org/omim/614743|UMLS:C3553622
MONDO:0037829	purine metabolism disease	biolink:Disease	mondo	UMLS:C0268104|SCTID:32612005		disorder of purine nucleobase metabolic process|disorder of purine nucleobase metabolic process|purine nucleobase metabolic process disease|disorder of purine metabolism	http://purl.obolibrary.org/obo/MONDO_0037829	A disease that has its basis in the disruption of purine nucleobase metabolic process.	SNOMEDCT:32612005|UMLS:C0268104
MONDO:0011219	Fried's tooth and nail syndrome	biolink:Disease	mondo	DOID:0111661|UMLS:C0406715|Orphanet:99672|OMIM:602401|SCTID:239020008	ordo_malformation_syndrome	ectodermal dysplasia 8, hair/tooth/nail type|ECTD8|ectodermal dysplasia 8, hair/tooth/nail type; ECTD8	http://purl.obolibrary.org/obo/MONDO_0011219		http://identifiers.org/omim/602401|SNOMEDCT:239020008|UMLS:C0406715|ORPHA:99672|DOID:0111661
MONDO:0013884	neuronopathy, distal hereditary motor, type 5B	biolink:Disease	mondo	UMLS:C3553656|OMIM:614751|DOID:0111205		dHMN 5B|neuronopathy, distal hereditary motor, type VB|spinal muscular atrophy, distal, type 5B|REEP1 neuronopathy, distal hereditary motor|HMN 5B|neuronopathy, distal hereditary motor, type VB; HMN5B|neuronopathy, distal hereditary motor caused by mutation in REEP1|HMN5B|neuropathy, distal hereditary motor, type 5B	http://purl.obolibrary.org/obo/MONDO_0013884	Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the REEP1 gene.	DOID:0111205|UMLS:C3553656|http://identifiers.org/omim/614751
MONDO:0011221	Weyers ulnar ray/oligodactyly syndrome	biolink:Disease	mondo	UMLS:C1865566|GARD:0010178|MESH:C536696|OMIM:602418	gard_rare	Weyers ulnar ray/oligodactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0011221		MESH:C536696|UMLS:C1865566|http://identifiers.org/omim/602418
NCBITaxon:49202	Dermacentor marginatus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_49202		
MONDO:0013885	Malan overgrowth syndrome	biolink:Disease	mondo	OMIM:614753|UMLS:C3553660|Orphanet:420179|ICD10:Q87.3|SCTID:763795006	ordo_malformation_syndrome	Sotos syndrome 2|SOTOS2|Sotos syndrome 2; SOTOS2|Sotos syndrome type 2|Malan syndrome	http://purl.obolibrary.org/obo/MONDO_0013885	Malan overgrowth syndrome is a multiple congenital anomalies syndrome characterized by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behavior, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies.	ORPHA:420179|UMLS:C3553660|SNOMEDCT:763795006|http://identifiers.org/omim/614753
NCBITaxon:171637	Amygdaloideae	organism taxon	mondo	PMID:24631854|GC_ID:1		Spiraeoideae|Maloideae	http://purl.obolibrary.org/obo/NCBITaxon_171637		
MONDO:0011220	PARK3	biolink:Disease	mondo	DOID:0111250|OMIM:602404|MESH:C566552|UMLS:C1865581|GARD:0008578		Parkinson disease 3, autosomal dominant; PARK3|autosomal dominant Parkinson disease|Parkinson disease type 3|Parkinson disease 3, autosomal dominant|PARK3|Parkinson disease 3, autosomal dominant Lewy body	http://purl.obolibrary.org/obo/MONDO_0011220		MESH:C566552|DOID:0111250|UMLS:C1865581|http://identifiers.org/omim/602404
HGNC:10664	CWC27	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10664		
MONDO:0011223	amyotrophic lateral sclerosis type 4	biolink:Disease	mondo	GARD:0010502|OMIM:602433|UMLS:C1865409|MESH:C566550|DOID:0060196|ICD10:G12.2|Orphanet:357043	gard_rare|ordo_disease	ALS 4|ALS4|dHMN with upper motor neuron signs|SETX amyotrophic lateral sclerosis|neuronopathy, distal hereditary motor, with pyramidal features|amyotrophic lateral sclerosis caused by mutation in SETX|distal hereditary motor neuropathy with pyramidal features|amyotrophic lateral sclerosis 4, juvenile; ALS4|amyotrophic lateral sclerosis 4|amyotrophic lateral sclerosis 4, juvenile|distal hereditary motor neuropathy with upper motor neuron signs	http://purl.obolibrary.org/obo/MONDO_0011223	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SETX gene.	ORPHA:357043|MESH:C566550|DOID:0060196|UMLS:C1865409|http://identifiers.org/omim/602433
MONDO:0013882	hyperphosphatasia with intellectual disability syndrome 2	biolink:Disease	mondo	UMLS:C3553637|OMIM:614749		hyperphosphatasia with intellectual disability syndrome 2; HPMRS2|PIGO hyperphosphatasia-intellectual disability syndrome|hyperphosphatasia with intellectual disability syndrome 2|hyperphosphatasia with mental retardation syndrome type 2|hyperphosphatasia with intellectual disability syndrome type 2|glycosylphosphatidylinositol biosynthesis defect 6|HPMRS2|hyperphosphatasia with mental retardation syndrome 2|hyperphosphatasia with mental retardation syndrome 2; HPMRS2|hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGO	http://purl.obolibrary.org/obo/MONDO_0013882	Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGO gene.	UMLS:C3553637|http://identifiers.org/omim/614749
MONDO:0011222	GLC1D	biolink:Disease	mondo	MESH:C566551|UMLS:C1865427|OMIM:602429		GLC1D|glaucoma 1, open angle, D|glaucoma 1, open angle, D; GLC1D|glaucoma, primary open angle, adult-onset	http://purl.obolibrary.org/obo/MONDO_0011222		MESH:C566551|UMLS:C1865427|http://identifiers.org/omim/602429
MONDO:0013883	congenital myasthenic syndrome 13	biolink:Disease	mondo	DOID:0110676|OMIM:614750|UMLS:C3553645		myasthenic syndrome, congenital, 13|myasthenic syndrome, congenital, with tubular aggregates 2|DPAGT1 congenital myasthenic syndromes with glycosylation defect|CMS13|congenital myasthenic syndrome type 13|myasthenic syndrome, congenital, 13; CMS13|congenital myasthenic syndrome 13 with tubular aggregates|congenital myasthenic syndrome with tubular aggregates 2|congenital myasthenic syndromes with glycosylation defect caused by mutation in DPAGT1|CMSTA2|myasthenic syndrome, congenital, type 13	http://purl.obolibrary.org/obo/MONDO_0013883	Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the DPAGT1 gene.	DOID:0110676|UMLS:C3553645|http://identifiers.org/omim/614750
MONDO:0011225	severe combined immunodeficiency due to DCLRE1C deficiency	biolink:Disease	mondo	OMIM:602450|DOID:0060006|DOID:0090012|SCTID:715982006|ICD10:D81.1|GARD:0009987|Orphanet:275	gard_rare|ordo_disease	severe combined immunodeficiency, Athabaskan type|RS-SCID|SCID due to artemis deficiency|severe combined immunodeficiency (disease) caused by mutation in DCLRE1C|Athabaskan Severe combined immunodeficiency|severe combined immunodeficiency due to DCLRE1C deficiency|SCID, Athabaskan type|SCID due to DCLRE1C deficiency|severe combined immunodeficiency with sensitivity to ionizing radiation|severe combined immunodeficiency, Athabascan type|SCID due to ARTEMIS deficiency|severe combined immunodeficiency, Athabaskan-type|SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation|DCLRE1C severe combined immunodeficiency (disease)|artemis deficiency|severe combined immunodeficiency due to artemis deficiency|SCID, Athabascan type|severe combined immunodeficiency due to ARTEMIS deficiency|severe combined immunodeficiency, partial	http://purl.obolibrary.org/obo/MONDO_0011225	Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.	ORPHA:275|SNOMEDCT:715982006|DOID:0090012|DOID:0060006|http://identifiers.org/omim/602450
MONDO:0013888	tremor, hereditary essential, 4	biolink:Disease	mondo	UMLS:C3539195|OMIM:614782|DOID:0111431		tremor, hereditary essential, 4; ETM4|FUS essential tremor|tremor, hereditary essential, type 4|ETM4|tremor, hereditary essential, 4|essential tremor caused by mutation in FUS	http://purl.obolibrary.org/obo/MONDO_0013888	Any essential tremor in which the cause of the disease is a mutation in the FUS gene.	http://identifiers.org/omim/614782|UMLS:C3539195|DOID:0111431
MONDO:0011224	monomelic amyotrophy	biolink:Disease	mondo	UMLS:C1865384|ICD10:G12.8|OMIM:602440|MedDRA:10069681|Orphanet:65684|MESH:C538253|EFO:1001989|GARD:0009697	ordo_disease|gard_rare	spinal muscular atrophy, juvenile, nonprogressive|spinal muscular atrophy juvenile nonprogressive|Hirayama disease|amyotrophy, monomelic|JMADUE|benign focal amyotrophy|juvenile muscular atrophy of distal upper extremity|juvenile muscular atrophy of the distal upper limb	http://purl.obolibrary.org/obo/MONDO_0011224	Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms.	MESH:C538253|UMLS:C1865384|ORPHA:65684|MEDDRA:10069681|http://identifiers.org/omim/602440
MONDO:0013889	short stature-optic atrophy-Pelger-HuC+t anomaly syndrome	biolink:Disease	mondo	UMLS:C3541319|Orphanet:391677|ICD10:Q87.1|GARD:0010945|OMIM:614800	ordo_malformation_syndrome	soph|short stature-optic atrophy-Pelger-Huët anomaly syndrome|soph syndrome|short stature, optic nerve atrophy, and Pelger-Huet anomaly|short stature with optic atrophy and Pelger-Huët anomaly syndrome|short stature, optic nerve atrophy, and Pelger-Huet anomaly; soph	http://purl.obolibrary.org/obo/MONDO_0013889		http://identifiers.org/omim/614800|ORPHA:391677|UMLS:C3541319
HP:0000421	Epistaxis	biolink:PhenotypicFeature	mondo	ICD10:R04.0|SNOMEDCT_US:12441001|EFO:0003895|SNOMEDCT_US:249366005|UMLS:C0014591|ICD9:784.7|MSH:D004844|COHD:318556|NCIT:C26766		Nose bleed|Frequent nosebleeds|Nasal hemorrhage|Nosebleed|Nose bleeding|Bloody nose	http://purl.obolibrary.org/obo/HP_0000421	Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.	
MONDO:0011227	short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome	biolink:Disease	mondo	Orphanet:397623|ICD10:Q87.1|MESH:C566544|UMLS:C1865361|OMIM:602471|SCTID:417081007	ordo_malformation_syndrome	SAMS syndrome|SAMS|short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities|short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities; SAMS	http://purl.obolibrary.org/obo/MONDO_0011227		MESH:C566544|SNOMEDCT:417081007|ORPHA:397623|UMLS:C1865361|http://identifiers.org/omim/602471
MONDO:0013886	nonprogressive cerebellar atxia with mental retardation	biolink:Disease	mondo	DOID:0050998|OMIM:614756|ICD10:G11.0|Orphanet:314647|UMLS:C3553661|SCTID:723441001	ordo_disease	cerebellar ataxia, nonprogressive, with mental retardation|cerebellar ataxia, nonprogressive, with intellectual disability|cerebellar ataxia, nonprogressive, with intellectual disability; CANPMR|cerebellar ataxia, nonprogressive, with mental retardation; CANPMR|nonprogressive cerebellar ataxia with mental retardation|nonprogressive cerebellar ataxia with intellectual disability|CANPMR|non-progressive cerebellar ataxia with intellectual disability	http://purl.obolibrary.org/obo/MONDO_0013886	Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).	SNOMEDCT:723441001|DOID:0050998|ORPHA:314647|UMLS:C3553661|http://identifiers.org/omim/614756
MONDO:0013887	heterotaxy, visceral, 6, autosomal	biolink:Disease	mondo	OMIM:614779|UMLS:C3553676		heterotaxy, visceral, 6, autosomal|heterotaxy, visceral, 6, autosomal; HTX6|HTX6	http://purl.obolibrary.org/obo/MONDO_0013887		http://identifiers.org/omim/614779|UMLS:C3553676
MONDO:0011226	autosomal dominant nonsyndromic deafness 15	biolink:Disease	mondo	OMIM:602459|UMLS:C1865366|ICD10:H90.3|MESH:C566545|DOID:0110546		autosomal dominant nonsyndromic deafness caused by mutation in POU4F3|deafness, autosomal dominant 15; DFNA15|DFNA15|POU4F3 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 15|deafness, autosomal dominant type 15|autosomal dominant nonsyndromic deafness type 15|autosomal dominant deafness 15	http://purl.obolibrary.org/obo/MONDO_0011226	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the POU4F3 gene.	MESH:C566545|DOID:0110546|UMLS:C1865366|http://identifiers.org/omim/602459
CARO:0001010	organism or virus or viroid	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/CARO_0001010		
MONDO:0013880	facial paresis, hereditary congenital, 3	biolink:Disease	mondo	UMLS:C3553625|OMIM:614744		HOXB1 congenital hereditary facial paralysis-variable hearing loss syndrome|congenital hereditary facial paralysis-variable hearing loss syndrome caused by mutation in HOXB1|HCFP3|facial paresis, hereditary congenital, 3|facial paresis, hereditary congenital, 3; HCFP3|facial paresis, hereditary congenital, type 3	http://purl.obolibrary.org/obo/MONDO_0013880	Any congenital hereditary facial paralysis-variable hearing loss syndrome in which the cause of the disease is a mutation in the HOXB1 gene.	UMLS:C3553625|http://identifiers.org/omim/614744
MONDO:0013881	congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome	biolink:Disease	mondo	UMLS:C3553636|OMIM:614748|Orphanet:306504	ordo_disease	congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome|JEB with respiratory and renal involvement|junctional epidermolysis bullosa with respiratory and renal involvement|interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital; ILNEB|congenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndrome|interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital|JEB-RR|ILNEB|congenital ILNEB syndrome|congenital NEP syndrome	http://purl.obolibrary.org/obo/MONDO_0013881	Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.	UMLS:C3553636|http://identifiers.org/omim/614748|ORPHA:306504
HGNC:10660	SDC3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10660		
NCBITaxon:5988	Litostomatea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_5988		
MONDO:0001800	equatorial staphyloma	biolink:Disease	mondo	SCTID:82146006|UMLS:C0155361|ICD10:H15.81|DOID:13788|ICD9:379.13			http://purl.obolibrary.org/obo/MONDO_0001800		SNOMEDCT:82146006|UMLS:C0155361|DOID:13788
NCBITaxon:37296	Human gammaherpesvirus 8	organism taxon	mondo	GC_ID:1		Kaposi's sarcoma-associated herpesvirus - Human herpesvirus 8|Human herpesvirus 8 type P|Kaposi's sarcoma herpesvirus|Kaposi's sarcoma-associated herpesvirus|KSHV|Kaposi's sarcoma-associated herpes-like virus|Human herpesvirus 8|HHV8	http://purl.obolibrary.org/obo/NCBITaxon_37296		
CL:0000765	erythroblast	biolink:Cell	mondo	BTO:0001571|CALOHA:TS-0289|FMA:83504		normoblast	http://purl.obolibrary.org/obo/CL_0000765	A nucleated precursor of an erythrocyte that lacks hematopoietic lineage markers.	
HGNC:10627	CCL3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10627		
CL:0000766	myeloid leukocyte	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000766	A cell of the monocyte, granulocyte, or mast cell lineage.	
HGNC:10628	CCL3L1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10628		
GO:0062013	positive regulation of small molecule metabolic process	biolink:OntologyClass	mondo			positive regulation of small molecule metabolism	http://purl.obolibrary.org/obo/GO_0062013	Any process that activates or increases the frequency, rate or extent of a small molecule metabolic process.	
GO:0062012	regulation of small molecule metabolic process	biolink:OntologyClass	mondo			regulation of small molecule metabolism	http://purl.obolibrary.org/obo/GO_0062012	Any process that modulates the rate, frequency or extent of a small molecule metabolic process.	
UBERON:0010414	omental fat pad	biolink:AnatomicalEntity	mondo			omental fat depot	http://purl.obolibrary.org/obo/UBERON_0010414	encapsulated adipose tissue associated with the fold of peritoneal tissue that extends from the stomach to the posterior abdominal wall after associating with the transverse colon	
GO:0062014	negative regulation of small molecule metabolic process	biolink:OntologyClass	mondo			negative regulation of small molecule metabolism	http://purl.obolibrary.org/obo/GO_0062014	Any process that stops, prevents or reduces the frequency, rate or extent of a small molecule metabolic process.	
UBERON:0010412	epididymal fat pad	biolink:AnatomicalEntity	mondo			periepididymal fat pad	http://purl.obolibrary.org/obo/UBERON_0010412	encapsulated adipose tissue associated with the epididymis	
UBERON:0010413	parametrial fat pad	biolink:AnatomicalEntity	mondo			parametrial fat depot|parametrial adipose tissue|parametrial fat	http://purl.obolibrary.org/obo/UBERON_0010413	encapsulated adipose tissue associated with the extension of the subserous coat of the uterus laterally between the layers of the broad ligament	
UBERON:0010418	urethral opening	biolink:AnatomicalEntity	mondo			urethral orifice	http://purl.obolibrary.org/obo/UBERON_0010418	An orifice that is part of a lower urinary tract.	
HGNC:7967	NR1H4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7967		
CL:0000762	nucleated thrombocyte	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000762	A nucleated blood cell involved in coagulation, typically seen in birds and other non-mammalian vertebrates.	
CL:0000763	myeloid cell	biolink:Cell	mondo	CALOHA:TS-0647|BTO:0001441			http://purl.obolibrary.org/obo/CL_0000763	A cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage.	
NCBITaxon:49274	Lycopersicon	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_49274		
CL:0000764	erythroid lineage cell	biolink:Cell	mondo	CALOHA:TS-0290|FMA:83516|FMA:62845		erythropoietic cell	http://purl.obolibrary.org/obo/CL_0000764	A immature or mature cell in the lineage leading to and including erythrocytes.	
HGNC:7961	NR0B2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7961		
HGNC:7960	NR0B1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7960		
GO:0003723	RNA binding	biolink:OntologyClass	mondo			base pairing with RNA|poly-A RNA binding|poly(A)-RNA binding|poly(A) RNA binding	http://purl.obolibrary.org/obo/GO_0003723	Interacting selectively and non-covalently with an RNA molecule or a portion thereof.	
CHEBI:88184	metal allergen	biolink:ChemicalSubstance	mondo			allergenic metals|metal allergens|allergenic metal	http://purl.obolibrary.org/obo/CHEBI_88184	Any metal which causes the onset of an allergic reaction.	
MONDO:0001811	tetanic cataract	biolink:Disease	mondo	UMLS:C0039613|SCTID:68216000|DOID:13822|ICD9:366.42|NCIT:C35068		hypocalcaemic cataract	http://purl.obolibrary.org/obo/MONDO_0001811	A cataract resulting from hypocalcemia.	DOID:13822|SNOMEDCT:68216000|NCIT:C35068|UMLS:C0039613
MONDO:0001810	hypoglossal nerve disease	biolink:Disease	mondo	MESH:D020437|DOID:13814|COHD:435537|SCTID:24777009|ICD9:352.5|NCIT:C26954|ICD10:G52.3|UMLS:C0152181		disorder of the XII nerve|hypoglossal nerve disease|disorder of hypoglossal nerve|disorder of XII nerve|twelfth nerve disorder|disease or disorder of hypoglossal nerve|disease of hypoglossal nerve|disorder of 12th nerve|hypoglossal nerve disorder|hypoglossal nerve disease or disorder|disorder of hypoglossal nerve|disorder of hypoglossal [12th] nerve	http://purl.obolibrary.org/obo/MONDO_0001810	A disease involving the hypoglossal nerve.	DOID:13814|NCIT:C26954|MESH:D020437|UMLS:C0152181|SNOMEDCT:24777009
CHEBI:88188	drug allergen	biolink:ChemicalSubstance	mondo			allergenic drug	http://purl.obolibrary.org/obo/CHEBI_88188	Any drug which causes the onset of an allergic reaction.	
UBERON:0010410	inguinal fat pad	biolink:AnatomicalEntity	mondo			fat depot of inguinal region|inguinal fat depot	http://purl.obolibrary.org/obo/UBERON_0010410	encapsulated adipose tissue found in the groin	
UBERON:0010411	retroperitoneal fat pad	biolink:AnatomicalEntity	mondo			retroperitoneal fat depot	http://purl.obolibrary.org/obo/UBERON_0010411	encapsulated adipose tissue found on the dorsal side of the peritoneum	
HGNC:7974	NR2E3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7974		
HGNC:7976	NR2F2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7976		
CL:0000771	eosinophil	biolink:Cell	mondo	FMA:62861|BTO:0000399|CALOHA:TS-0279		eosinocyte|polymorphonuclear leucocyte|eosinophilic leucocyte|polymorphonuclear leukocyte|eosinophilic granulocyte|eosinophilic leukocyte	http://purl.obolibrary.org/obo/CL_0000771	Any of the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin. Eosinophils are CD9-positive, CD191-positive, and CD193-positive.	
MONDO:0001809	adhesions of uterus	biolink:Disease	mondo	UMLS:CN199257|ICD9:621.5|DOID:13812|SCTID:361115000		intrauterine adhesions|intrauterine synechiae|band of uterus	http://purl.obolibrary.org/obo/MONDO_0001809		SNOMEDCT:361115000|UMLS:CN199257|DOID:13812
UBERON:0010402	epidermis suprabasal layer	biolink:AnatomicalEntity	mondo			suprabasal layer of epidermis|suprabasal layer|suprabasal cell layer of skin	http://purl.obolibrary.org/obo/UBERON_0010402	Any layer of the epidermis that is superior to the stratum basale	
HGNC:7975	NR2F1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7975		
HGNC:7978	NR3C1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7978		
CL:0000775	neutrophil	biolink:Cell	mondo	FMA:62860|CALOHA:TS-0688|BTO:0000130		polynuclear neutrophilic leukocyte|neutrocyte|polymorphonuclear leucocyte|neutrophilic leucocyte|PMN|neutrophil leukocyte|polynuclear neutrophilic leucocyte|poly|polymorphonuclear neutrophil|neutrophilic leukocyte|polymorphonuclear leukocyte|neutrophil leucocyte	http://purl.obolibrary.org/obo/CL_0000775	Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes.	
HGNC:7979	NR3C2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7979		
HGNC:5318	TNC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5318		
MONDO:0001804	anterior scleritis	biolink:Disease	mondo	ICD9:379.03|UMLS:C0155353|ICD10:H15.01|SCTID:63454000|COHD:441582|DOID:13794			http://purl.obolibrary.org/obo/MONDO_0001804		DOID:13794|UMLS:C0155353|SNOMEDCT:63454000
CHEBI:17895	L-tyrosine	biolink:ChemicalSubstance	mondo			Tyrosine|TYROSINE|(-)-alpha-amino-p-hydroxyhydrocinnamic acid|(S)-Tyrosine|4-hydroxy-L-phenylalanine|Tyr|Y|(S)-3-(p-Hydroxyphenyl)alanine|(2S)-2-amino-3-(4-hydroxyphenyl)propanoic acid|(S)-(-)-Tyrosine|(S)-alpha-amino-4-hydroxybenzenepropanoic acid|L-Tyrosin|L-Tyrosine|L-tyrosine|(S)-2-Amino-3-(p-hydroxyphenyl)propionic acid	http://purl.obolibrary.org/obo/CHEBI_17895	An optically active form of tyrosine having L-configuration.	
MONDO:0001803	myringitis bullosa hemorrhagica	biolink:Disease	mondo	DOID:13791|UMLS:C0155461|ICD9:384.01|SCTID:33528003|ICD10:H73.01|COHD:375291		bullous myringitis	http://purl.obolibrary.org/obo/MONDO_0001803	A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection.	DOID:13791|UMLS:C0155461|SNOMEDCT:33528003
MONDO:0001802	acute tympanitis	biolink:Disease	mondo	DOID:13790|ICD10:H73.0|COHD:381040|ICD9:384.00|ICD10:H73.009|UMLS:C0155460|SCTID:297009|ICD10:H73.00		acute myringitis	http://purl.obolibrary.org/obo/MONDO_0001802		SNOMEDCT:297009|UMLS:C0155460|DOID:13790
UBERON:0010409	ocular surface region	biolink:AnatomicalEntity	mondo			eye surface|ocular surface|eye surface region	http://purl.obolibrary.org/obo/UBERON_0010409	The integrated unit (of the eye) that consists of the conjunctiva, the corneal surface, and the ocular mucosal adnexa including the lid margins and the meibomian gland openings, the lacrimal glands and the lacrimal drainage system, all which are critical to maintain ocular surface integrity and provide protection from external antigens and pathogenic microorganisms.	
MONDO:0001801	staphyloma posticum	biolink:Disease	mondo	UMLS:C0155360|ICD10:H15.83|SCTID:87819007|DOID:13789|COHD:438767|ICD9:379.12			http://purl.obolibrary.org/obo/MONDO_0001801		SNOMEDCT:87819007|UMLS:C0155360|DOID:13789
MONDO:0001808	chronic subinvolution of uterus	biolink:Disease	mondo	COHD:201903|ICD9:621.1|SCTID:198315005|UMLS:C0156370|DOID:13811			http://purl.obolibrary.org/obo/MONDO_0001808		SNOMEDCT:198315005|UMLS:C0156370|DOID:13811
CHEBI:17891	donor	biolink:ChemicalSubstance	mondo			Donor|Donator|donneur	http://purl.obolibrary.org/obo/CHEBI_17891	A molecular entity that can transfer ("donate") an electron, a pair of electrons, an atom or a group to another molecular entity.	
MONDO:0001807	obsolete familial combined hyperlipidemia	biolink:Disease	mondo	ICD9:272.4|ICD10:E78.4|MedDRA:10027763|SCTID:238040008|MESH:D006950|COHD:438720|Orphanet:79211|ICD10:E78.2|DOID:13809		type IIb hyperlipoproteinemia|mixed hyperlipoproteinemia|hyperbetalipoproteinemia with prebetalipoproteinemia|mixed hyperlipidaemia|mixed hyperlipidemia|combined hyperlipidemia|combined hyperlipoproteinemia|familial multiple lipoprotein-type hyperlipidemia|familial combined hyperlipidemia (disorder) [ambiguous]	http://purl.obolibrary.org/obo/MONDO_0001807	A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma cholesterol and/or triglycerides. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (upstream stimulatory factors) on chromosome 1.	ORPHA:79211|DOID:13809|SNOMEDCT:238040008|MESH:D006950|MEDDRA:10027763
MONDO:0001806	vaginal squamous tumor	biolink:Disease	mondo	DOID:138|NCIT:C40242|UMLS:C1519931		vaginal squamous tumor|vagina squamous cell neoplasm|vaginal squamous neoplasm	http://purl.obolibrary.org/obo/MONDO_0001806	A benign or malignant neoplasm that arises from the squamous epithelium of the vagina. Representative examples include condyloma acuminatum, squamous papilloma, and squamous cell carcinoma.	NCIT:C40242|DOID:138|UMLS:C1519931
MONDO:0001805	female breast central part cancer	biolink:Disease	mondo	ICD10:C50.11|UMLS:C0153549|ICD9:174.1|DOID:13799|SCTID:188151006		malignant neoplasm of central part of female breast|malignant neoplasm of central portion of female breast	http://purl.obolibrary.org/obo/MONDO_0001805		SNOMEDCT:188151006|DOID:13799|UMLS:C0153549
HGNC:10606	SCP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10606		
HGNC:10603	SCO1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10603		
HGNC:10604	SCO2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10604		
GO:0062033	positive regulation of mitotic sister chromatid segregation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0062033	Any process that starts or increases the frequency, rate or extent of sister chromatid segregation during mitosis.	
UBERON:0010400	spleen trabecular vein	biolink:AnatomicalEntity	mondo			trabecular vein	http://purl.obolibrary.org/obo/UBERON_0010400	one of the veins that feed the splenic vein	
HGNC:7989	NRAS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7989		
HGNC:5326	HYMAI	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5326		
HGNC:10610	CCL11	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10610		
NCBITaxon:5970	Exophiala dermatitidis	organism taxon	mondo	GC_ID:1		Wangiella dermatitidis	http://purl.obolibrary.org/obo/NCBITaxon_5970		
HGNC:7981	NR4A2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7981		
HGNC:5320	HYAL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5320		
HGNC:7983	NR5A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7983		
HGNC:7982	NR4A3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7982		
GO:0003700	DNA-binding transcription factor activity	biolink:OntologyClass	mondo			nucleic acid binding transcription factor activity|bacterial-type RNA polymerase transcription factor activity, sequence-specific DNA binding|transcription factor activity|bacterial-type RNA polymerase transcription factor activity, metal ion regulated sequence-specific DNA binding|transcription factor activity, metal ion regulated sequence-specific DNA binding|bacterial-type RNA polymerase transcription enhancer sequence-specific DNA binding transcription factor activity|bacterial-type DNA binding transcription factor activity|transcription factor activity, bacterial-type RNA polymerase proximal promoter sequence-specific DNA binding|sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity|transcription factor activity, bacterial-type RNA polymerase transcription enhancer sequence-specific binding|transcription factor activity, bacterial-type RNA polymerase core promoter proximal region sequence-specific binding|bacterial-type RNA polymerase core promoter proximal region sequence-specific DNA binding transcription factor activity|DNA binding transcription factor activity|metal ion regulated sequence-specific DNA binding transcription factor activity|metal ion regulated sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity|gene-specific transcription factor activity|sequence-specific DNA binding transcription factor activity	http://purl.obolibrary.org/obo/GO_0003700	A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons.	
CHEBI:30879	alcohol	biolink:ChemicalSubstance	mondo			an alcohol|alcohols|Alcohol	http://purl.obolibrary.org/obo/CHEBI_30879	A compound in which a hydroxy group, -OH, is attached to a saturated carbon atom.	
HGNC:10618	CCL2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10618		
GO:0062023	collagen-containing extracellular matrix	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0062023	An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells.	
HGNC:7997	NRG1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7997		
GO:0003707	steroid hormone receptor activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0003707	Combining with a steroid hormone and transmitting the signal within the cell to initiate a change in cell activity or function.	
HGNC:5330	IARS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5330		
HGNC:5331	NOD2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5331		
MONDO:0001840	obsolete schistosomiasis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001840		
MONDO:0001844	uterine corpus myxoid leiomyoma	biolink:Disease	mondo	NCIT:C40166|DOID:13956|UMLS:C1519860			http://purl.obolibrary.org/obo/MONDO_0001844	A morphologic variant of uterine corpus leiomyoma characterized by extensive myxoid degeneration of the neoplasm connective tissue stroma.	DOID:13956|UMLS:C1519860|NCIT:C40166
MONDO:0001843	uterus interstitial leiomyoma	biolink:Disease	mondo	COHD:192854|UMLS:C0153994|SCTID:93616000|ICD10:D25.1|ICD9:218.1|DOID:13955		intramural leiomyoma of uterus	http://purl.obolibrary.org/obo/MONDO_0001843		DOID:13955|SNOMEDCT:93616000|UMLS:C0153994
MONDO:0001842	uterine corpus dissecting leiomyoma	biolink:Disease	mondo	DOID:13953|NCIT:C40172|UMLS:C1519847		Cotyledonoid dissecting leiomyoma|Sternberg tumor	http://purl.obolibrary.org/obo/MONDO_0001842	A rare morphologic variant of uterine corpus leiomyoma. Macroscopically, it is characterized by large, fungating, and multinodular neoplasm masses arising from the uterine corpus, and extending into the broad ligament or the peritoneal cavity. Microscopically, it shows neoplastic smooth muscle cells infiltrating the myometrium. The neoplastic cells are arranged in a micronodular pattern. Hydropic changes and increased vascularity are also present.	DOID:13953|UMLS:C1519847|NCIT:C40172
MONDO:0001841	uterine corpus epithelioid leiomyoma	biolink:Disease	mondo	DOID:13951|UMLS:C1519850|NCIT:C40164			http://purl.obolibrary.org/obo/MONDO_0001841	A morphologic variant of uterine corpus leiomyoma characterized by the presence of round or polygonal epithelioid smooth muscle cells forming clusters.	DOID:13951|UMLS:C1519850|NCIT:C40164
UBERON:0009471	dorsum of tongue	biolink:AnatomicalEntity	mondo			dorsum linguae|tongue dorsum|dorsal tongue	http://purl.obolibrary.org/obo/UBERON_0009471	The superior surface of the tongue divided by the sulcus terminalis into an anterior two-thirds, the presulcal part (pars presulcalis). and a posterior one-third, the postsulcal part (pars postsulcalis).	
MONDO:0013826	autosomal recessive nonsyndromic deafness 86	biolink:Disease	mondo	DOID:0110532|UMLS:C2829265|ICD10:H90.3|OMIM:614617		deafness, autosomal recessive type 86|autosomal recessive nonsyndromic deafness caused by mutation in TBC1D24|DFNB86|deafness, autosomal recessive 86|deafness, autosomal recessive 86; DFNB86|autosomal recessive deafness 86|TBC1D24 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 86	http://purl.obolibrary.org/obo/MONDO_0013826	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene.	DOID:0110532|http://identifiers.org/omim/614617|UMLS:C2829265
MONDO:0013827	hyperekplexia 3	biolink:Disease	mondo	ICD10:G25.8|OMIM:614618|UMLS:C3553288|DOID:0060698		SLC6A5 hereditary hyperekplexia|hyperekplexia 3|HKPX3|hyperekplexia 3; HKPX3|hereditary hyperekplexia caused by mutation in SLC6A5|hyperekplexia type 3	http://purl.obolibrary.org/obo/MONDO_0013827	Any hereditary hyperekplexia in which the cause of the disease is a mutation in the SLC6A5 gene.	UMLS:C3553288|DOID:0060698|http://identifiers.org/omim/614618
CL:0000723	somatic stem cell	biolink:Cell	mondo	CALOHA:TS-2086|FMA:63368			http://purl.obolibrary.org/obo/CL_0000723	A stem cell that can give rise to cell types of the body other than those of the germ-line.	
MONDO:0013824	Joubert syndrome 17	biolink:Disease	mondo	DOID:0110986|OMIM:614615|UMLS:C3553264		Joubert syndrome 17|Joubert syndrome caused by mutation in CPLANE1|JBTS17|CPLANE1 Joubert syndrome|Joubert syndrome 17; JBTS17|Joubert syndrome type 17	http://purl.obolibrary.org/obo/MONDO_0013824	Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene.	UMLS:C3553264|DOID:0110986|http://identifiers.org/omim/614615
MONDO:0013825	congenital diarrhea 6	biolink:Disease	mondo	UMLS:C3553270|DOID:0060780|OMIM:614616|Orphanet:314373|ICD10:P78.3	ordo_disease	congenital diarrhea type 6|DIAR6|diarrhea 6|congenital diarrhea caused by mutation in GUCY2C|GUCY2C congenital diarrhea|diarrhea type 6|chronic diarrhea due to guanylate cyclase 2C overactivity|diarrhea 6; DIAR6	http://purl.obolibrary.org/obo/MONDO_0013825	Any congenital diarrhea in which the cause of the disease is a mutation in the GUCY2C gene.	ORPHA:314373|UMLS:C3553270|DOID:0060780|http://identifiers.org/omim/614616
GO:1904479	negative regulation of intestinal absorption	biolink:OntologyClass	mondo			down-regulation of intestinal absorption|down regulation of intestinal absorption|inhibition of intestinal absorption|downregulation of intestinal absorption	http://purl.obolibrary.org/obo/GO_1904479	Any process that stops, prevents or reduces the frequency, rate or extent of intestinal absorption.	
NCBITaxon:555280	Discosea	organism taxon	mondo	GC_ID:1		Flabellinea	http://purl.obolibrary.org/obo/NCBITaxon_555280		
GO:0086019	cell-cell signaling involved in cardiac conduction	biolink:OntologyClass	mondo			cell-cell signalling involved in cardiac conduction	http://purl.obolibrary.org/obo/GO_0086019	Any process that mediates the transfer of information from one cell to another and contributes to the heart process that regulates cardiac muscle contraction; beginning with the generation of an action potential in the sinoatrial node and ending with regulation of contraction of the myocardium.	
GO:1904478	regulation of intestinal absorption	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1904478	Any process that modulates the frequency, rate or extent of intestinal absorption.	
MONDO:0013828	hyperekplexia 2	biolink:Disease	mondo	DOID:0060697|ICD10:G25.8|OMIM:614619|UMLS:C3553291		hereditary hyperekplexia caused by mutation in GLRB|hyperekplexia 2|GLRB hereditary hyperekplexia|hyperekplexia 2; HKPX2|HKPX2|hyperekplexia type 2	http://purl.obolibrary.org/obo/MONDO_0013828	Any hereditary hyperekplexia in which the cause of the disease is a mutation in the GLRB gene.	UMLS:C3553291|DOID:0060697|http://identifiers.org/omim/614619
MONDO:0013829	UV-sensitive syndrome 2	biolink:Disease	mondo	OMIM:614621|UMLS:C3553298		ERCC8 UV-sensitive syndrome|UV-sensitive syndrome 2; UVSS2|UV-sensitive syndrome caused by mutation in ERCC8|UV-sensitive syndrome type 2|UVSS2|UV-sensitive syndrome 2	http://purl.obolibrary.org/obo/MONDO_0013829	Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC8 gene.	UMLS:C3553298|http://identifiers.org/omim/614621
HGNC:5344	ICAM1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5344		
MONDO:0013830	KTCN5	biolink:Disease	mondo	OMIM:614622|UMLS:C3553302		keratoconus 5|keratoconus 5; KTCN5|KTCN5	http://purl.obolibrary.org/obo/MONDO_0013830		http://identifiers.org/omim/614622|UMLS:C3553302
MONDO:0013833	KTCN7	biolink:Disease	mondo	UMLS:C3553308|OMIM:614629		keratoconus 7; KTCN7|KTCN7|keratoconus 7	http://purl.obolibrary.org/obo/MONDO_0013833		UMLS:C3553308|http://identifiers.org/omim/614629
MONDO:0013834	UV-sensitive syndrome 3	biolink:Disease	mondo	OMIM:614640|UMLS:C3553328		UV-sensitive syndrome type 3|UV-sensitive syndrome 3|UVSS3|UVSSA UV-sensitive syndrome|UV-sensitive syndrome 3; UVSS3|UV-sensitive syndrome caused by mutation in UVSSA	http://purl.obolibrary.org/obo/MONDO_0013834	Any UV-sensitive syndrome in which the cause of the disease is a mutation in the UVSSA gene.	UMLS:C3553328|http://identifiers.org/omim/614640
GO:1904480	positive regulation of intestinal absorption	biolink:OntologyClass	mondo			up-regulation of intestinal absorption|up regulation of intestinal absorption|activation of intestinal absorption|upregulation of intestinal absorption	http://purl.obolibrary.org/obo/GO_1904480	Any process that activates or increases the frequency, rate or extent of intestinal absorption.	
MONDO:0013831	KTCN6	biolink:Disease	mondo	OMIM:614623|UMLS:C3553306		keratoconus 6|keratoconus 6; KTCN6|KTCN6	http://purl.obolibrary.org/obo/MONDO_0013831		http://identifiers.org/omim/614623|UMLS:C3553306
MONDO:0013832	KTCN8	biolink:Disease	mondo	OMIM:614628|UMLS:C3553307		KTCN8|keratoconus 8|keratoconus 8; KTCN8	http://purl.obolibrary.org/obo/MONDO_0013832		UMLS:C3553307|http://identifiers.org/omim/614628
MONDO:0001837	acute gonococcal salpingitis	biolink:Disease	mondo	COHD:200334|DOID:13942|SCTID:45377007|UMLS:C0275654|ICD9:098.17		gonococcal salpingitis, specified as acute|gonococcal salpingitis, acute	http://purl.obolibrary.org/obo/MONDO_0001837	Acute form of gonococcal salpingitis.	DOID:13942|UMLS:C0275654|SNOMEDCT:45377007
UBERON:0009472	axilla	biolink:AnatomicalEntity	mondo			axilla|axillary region|arm pit|regio axillaris|oxter|axillae|underarm|armpit|armpits|axillary region	http://purl.obolibrary.org/obo/UBERON_0009472	The axilla is the area directly under the joint where the forelimb connects to the shoulder.	
MONDO:0001836	amenorrhea (disease)	biolink:Disease	mondo	MESH:D000568|ICD9:626.0|HP:0000141|ICD10:N91.2|UMLS:C0002453|DOID:13938|NCIT:C61443|COHD:443800		amenia|absence of menstruation|amenorrhea	http://purl.obolibrary.org/obo/MONDO_0001836	The absence of menses in a woman who has achieved reproductive age.	MESH:D000568|NCIT:C61443|DOID:13938|UMLS:C0002453
MONDO:0001835	facial paralysis	biolink:Disease	mondo	DOID:13934|UMLS:C0015469|MESH:D005158|ICD10:G51.0|SCTID:280816001		facial palsy|palsy of face|face palsy	http://purl.obolibrary.org/obo/MONDO_0001835	Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. facial nerve diseases generally results in generalized hemifacial weakness. neuromuscular junction diseases and muscular diseases may also cause facial paralysis or paresis.	DOID:13934|MESH:D005158|SNOMEDCT:280816001|UMLS:C0015469
MONDO:0001834	visual pathway disease	biolink:Disease	mondo	SCTID:95776004|DOID:1393|ICD10:H47.9|UMLS:C0155287|SCTID:54767005|NCIT:C35342		disease or disorder of optic tract|optic tract disorder|disease of optic tract|optic tract disease or disorder|disorder of optic tract|visual pathway disorder|optic tract disease|disorder of optic tract	http://purl.obolibrary.org/obo/MONDO_0001834	A disorder of the neural pathway from the optic nerve to the visual cortex.	UMLS:C0155287|SNOMEDCT:54767005|DOID:1393|NCIT:C35342|SNOMEDCT:95776004
UBERON:0009477	associated mesenchyme of otic placode	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009477	Mesenchyme that is part of a otic placode.	
MONDO:0001839	obsolete interstitial cystitis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001839		
MONDO:0001838	acute gonococcal prostatitis	biolink:Disease	mondo	ICD9:098.12|UMLS:C0153192|DOID:13943|SCTID:111806005		gonococcal prostatitis (acute)|gonococcal prostatitis|gonococcal prostatitis, acute|acute gonococcal prostatitis	http://purl.obolibrary.org/obo/MONDO_0001838	Acute form of gonococcal prostatitis.	DOID:13943|UMLS:C0153192|SNOMEDCT:111806005
UBERON:0009479	ectoderm of buccopharyngeal membrane	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009479	An ectoderm that is part of a buccopharyngeal membrane.	
MONDO:0001851	primary lacrimal atrophy	biolink:Disease	mondo	SCTID:17093002|COHD:380107|DOID:1399|UMLS:C0155229|ICD9:375.13			http://purl.obolibrary.org/obo/MONDO_0001851		SNOMEDCT:17093002|UMLS:C0155229|DOID:1399
CHEBI:27207	univalent carboacyl group	biolink:ChemicalSubstance	mondo			univalent carboacyl groups|univalent acyl group|univalent carboxylic acyl groups	http://purl.obolibrary.org/obo/CHEBI_27207	A univalent carboacyl group is a group formed by loss of OH from the carboxy group of a carboxylic acid.	
MONDO:0001850	female breast lower-outer quadrant cancer	biolink:Disease	mondo	DOID:13972|UMLS:C0153553|ICD9:174.5|ICD10:C50.51|SCTID:188155002		malignant neoplasm of lower-outer quadrant of female breast	http://purl.obolibrary.org/obo/MONDO_0001850		UMLS:C0153553|SNOMEDCT:188155002|DOID:13972
MONDO:0001855	rubeosis iridis	biolink:Disease	mondo	COHD:440098|UMLS:C0154916|SCTID:51995000|DOID:14000|ICD9:364.42|ICD10:H21.1			http://purl.obolibrary.org/obo/MONDO_0001855		UMLS:C0154916|DOID:14000|SNOMEDCT:51995000
MONDO:0001854	lacrimal apparatus disease	biolink:Disease	mondo	ICD10:H04|ICD9:375.69|NCIT:C26809|ICD9:375.89|DOID:1400|ICD10:H04.9|ICD9:375|ICD9:375.9|SCTID:31053003		disease of lacrimal apparatus|disorder of lacrimal apparatus|disease or disorder of lacrimal apparatus|lachrymal system disorders|lacrimal apparatus disease|lacrimal system disorder|disorder of lacrimal system|lacrimal system disease|lacrimal apparatus disease or disorder|disorder of lacrimal apparatus	http://purl.obolibrary.org/obo/MONDO_0001854	A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus.	DOID:1400|NCIT:C26809|SNOMEDCT:31053003
MONDO:0001853	contact blepharoconjunctivitis	biolink:Disease	mondo	COHD:374959|ICD10:H10.53|SCTID:10813004|UMLS:C0155150|ICD9:372.22|DOID:13999			http://purl.obolibrary.org/obo/MONDO_0001853		UMLS:C0155150|DOID:13999|SNOMEDCT:10813004
MONDO:0001852	small intestine lymphoma	biolink:Disease	mondo	DOID:13996|ICD9:202.80|UMLS:C0278805|NCIT:C4007|SCTID:449074003		lymphoma of small bowel|small intestinal lymphoma|small bowel lymphoma|small intestine lymphoma|primary small intestinal lymphoma|lymphoma of the small intestine|lymphoma of small intestine|lymphoma of the small bowel	http://purl.obolibrary.org/obo/MONDO_0001852	A non-Hodgkin or Hodgkin lymphoma that arises from the small intestine.	NCIT:C4007|UMLS:C0278805|DOID:13996|SNOMEDCT:449074003
MONDO:0013815	FGFR2-related bent bone dysplasia	biolink:Disease	mondo	UMLS:C3281247|OMIM:614592|GARD:0010965|Orphanet:313855	ordo_disease	BBDS|bent bone dysplasia syndrome|bent bone dysplasia (BBD)-FGFR2 type|bent bone dysplasia syndrome; BBDS|perinatal lethal bent bone dysplasia	http://purl.obolibrary.org/obo/MONDO_0013815		UMLS:C3281247|ORPHA:313855|http://identifiers.org/omim/614592
MONDO:0013816	obsolete palmoplantar keratoderma, mutilating, with periorificial keratotic plaques	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0013816		
MONDO:0013813	dystonia 21	biolink:Disease	mondo	OMIM:614588|Orphanet:306734|UMLS:C3281236|ICD10:G24.1|DOID:0090046	ordo_disease	dystonia 21; DYT21|DYT21|dystonia 21|dystonia type 21|primary dystonia, DYT21 type	http://purl.obolibrary.org/obo/MONDO_0013813	Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia.	DOID:0090046|UMLS:C3281236|http://identifiers.org/omim/614588|ORPHA:306734
MONDO:0013814	PDCOS	biolink:Disease	mondo	OMIM:614590		podoconiosis, susceptibility to|lymphostatic verrucosis, susceptibility to|Nonfilarial elephantiasis of Lower legs, susceptibility to|endemic Nonfilarial elephantiasis, susceptibility to|PDCOS|podoconiosis, susceptibility to; PDCOS	http://purl.obolibrary.org/obo/MONDO_0013814		http://identifiers.org/omim/614590
MONDO:0013819	intellectual disability, autosomal dominant 14	biolink:Disease	mondo	DOID:0070044|OMIM:614607|UMLS:C3553247		autosomal dominant intellectual disability 14|mental retardation, autosomal dominant 14; MRD14|mental retardation, autosomal dominant 14|CSS2|ARID1A Coffin-Siris syndrome|COFFIN-SIRIS syndrome 2; CSS2|intellectual disability, autosomal dominant 14; MRD14|MRD14|Coffin-Siris syndrome caused by mutation in ARID1A|intellectual disability, autosomal dominant 14|autosomal dominant mental retardation 14|mental retardation, autosomal dominant type 14|Coffin-Siris syndrome 2|intellectual disability, autosomal dominant type 14	http://purl.obolibrary.org/obo/MONDO_0013819	Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1A gene.	UMLS:C3553247|DOID:0070044|http://identifiers.org/omim/614607
MONDO:0300000	SSR3-CDG	biolink:Disease	mondo	http://orcid.org/0000-0001-9969-8610		SSR3 congenital disorder of glycosylation|SSR3 deficiency	http://purl.obolibrary.org/obo/MONDO_0300000	A congenital disorder of glycosylation with a SSR3 deficiency that affects the brain, lungs and gastrointestinal system, and presents with clinical phenotypes such as seizures, intellectual disability, developmental delay, microcephaly and abnormal brain structure.	
CL:0000738	leukocyte	biolink:Cell	mondo	FMA:62852|CALOHA:TS-0549|BTO:0000751		white blood cell|immune cell|leucocyte	http://purl.obolibrary.org/obo/CL_0000738	An achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue.	
MONDO:0013817	preeclampsia/eclampsia 5	biolink:Disease	mondo	OMIM:614595|UMLS:C3281288		Preeclampsia/eclampsia type 5|preeclampsia/eclampsia 5|CORIN preeclampsia|Corin preeclampsia|PEE5|preeclampsia caused by mutation in CORIN|preeclampsia caused by mutation in Corin|PREECLAMPSIA/eclampsia 5; PEE5	http://purl.obolibrary.org/obo/MONDO_0013817	Any preeclampsia in which the cause of the disease is a mutation in the CORIN gene.	UMLS:C3281288|http://identifiers.org/omim/614595
MONDO:0013818	trichohepatoenteric syndrome 2	biolink:Disease	mondo	UMLS:C3281289|OMIM:614602|DOID:0111416		SKIV2L tricho-hepato-enteric syndrome|tricho-hepato-enteric syndrome caused by mutation in SKIV2L|Trichohepatoenteric syndrome 2|THES2|TRICHOHEPATOENTERIC syndrome 2; THES2|Trichohepatoenteric syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0013818	Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the SKIV2L gene.	DOID:0111416|UMLS:C3281289|http://identifiers.org/omim/614602
HGNC:5358	IRF8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5358		
MONDO:0013822	acrodysostosis 2 with or without hormone resistance	biolink:Disease	mondo	UMLS:C3553250|OMIM:614613		ACRDYS2|PDE4D acrodysostosis|acrodysostosis caused by mutation in PDE4D|acrodysostosis 2 with or without hormone resistance; ACRDYS2|acrodysostosis 2 with or without hormone resistance	http://purl.obolibrary.org/obo/MONDO_0013822	Any acrodysostosis in which the cause of the disease is a mutation in the PDE4D gene.	UMLS:C3553250|http://identifiers.org/omim/614613
MONDO:0013823	autosomal dominant nonsyndromic deafness 4B	biolink:Disease	mondo	UMLS:C3281297|DOID:0110574|ICD10:H90.3|OMIM:614614		autosomal dominant nonsyndromic deafness caused by mutation in CEACAM16|deafness, autosomal dominant 4B|deafness, autosomal dominant type 4B|autosomal dominant deafness 4B|deafness, autosomal dominant 4B; DFNA4B|CEACAM16 autosomal dominant nonsyndromic deafness|DFNA4B|autosomal dominant nonsyndromic deafness type 4B	http://purl.obolibrary.org/obo/MONDO_0013823	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CEACAM16 gene.	DOID:0110574|UMLS:C3281297|http://identifiers.org/omim/614614
HGNC:10602	SCNN1G	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10602		
MONDO:0013820	intellectual disability, autosomal dominant 15	biolink:Disease	mondo	OMIM:614608|UMLS:C3553248|DOID:0070045		autosomal dominant mental retardation 15|intellectual disability, autosomal dominant 15|SMARCB1 Coffin-Siris syndrome|mental retardation, autosomal dominant type 15|intellectual disability, autosomal dominant type 15|Coffin-Siris syndrome caused by mutation in SMARCB1|mental retardation, autosomal dominant 15; MRD15|autosomal dominant intellectual disability 15|mental retardation, autosomal dominant 15|CSS3|MRD15|COFFIN-SIRIS syndrome 3; CSS3|COFFIN-SIRIS syndrome 3|intellectual disability, autosomal dominant 15; MRD15	http://purl.obolibrary.org/obo/MONDO_0013820	Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCB1 gene.	UMLS:C3553248|DOID:0070045|http://identifiers.org/omim/614608
MONDO:0013821	intellectual disability, autosomal dominant 16	biolink:Disease	mondo	OMIM:614609|UMLS:C3553249|DOID:0070046		intellectual disability, autosomal dominant 16; MRD16|mental retardation, autosomal dominant type 16|intellectual disability, autosomal dominant 16|Coffin-Siris syndrome caused by mutation in SMARCA4|intellectual disability, autosomal dominant type 16|mental retardation, autosomal dominant 16|MRD16|autosomal dominant intellectual disability 16|mental retardation, autosomal dominant 16; MRD16|CSS4|COFFIN-SIRIS syndrome 4; CSS4|COFFIN-SIRIS syndrome 4|SMARCA4 Coffin-Siris syndrome|autosomal dominant mental retardation 16	http://purl.obolibrary.org/obo/MONDO_0013821	Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCA4 gene.	UMLS:C3553249|DOID:0070046|http://identifiers.org/omim/614609
CL:0000731	urothelial cell	biolink:Cell	mondo	FMA:84127		transitional epithelial cell of urinary bladder|bladder transitional cell|urinary tract transitional epithelial cell	http://purl.obolibrary.org/obo/CL_0000731	A cell of a layer of transitional epithelium in the wall of the bladder, ureter, and renal pelvis, external to the lamina propria.	
HGNC:10600	SCNN1B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10600		
MONDO:0001848	Morgagni cataract	biolink:Disease	mondo	SCTID:264443002|COHD:379811|DOID:13964|UMLS:C0152258|ICD9:366.18		Morgagnian cataract|hypermature cataract	http://purl.obolibrary.org/obo/MONDO_0001848	A form of hypermature cataract formed by liquefaction of the cortex and sinking of the dense nucleus to the bottom of the capsular bag.	SNOMEDCT:264443002|DOID:13964|UMLS:C0152258
MONDO:0001847	nuclear senile cataract	biolink:Disease	mondo	SCTID:193589009|DOID:13963|COHD:439297|ICD9:366.16		Senile nuclear sclerosis|lens nucleus senile cataract|Senile nuclear cataract|senile cataract of lens nucleus	http://purl.obolibrary.org/obo/MONDO_0001847	A senile cataract that involves the lens nucleus.	SNOMEDCT:193589009|DOID:13963
CHEBI:6067	isotretinoin	biolink:ChemicalSubstance	mondo			isotretinoinum|13-cis-Vitamin A acid|isotretinoina|Neovitamin A acid|isotretinoino|cis-RA|13-cis-retinoic acid|(7E,9E,11E,13Z)-retinoic acid|isotretinoin|13-RA|(2Z,4E6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoic acid|Amnesteem|Claravis|Accutane|isotretinoine	http://purl.obolibrary.org/obo/CHEBI_6067	A retinoic acid that is all-trans-retinoic acid in which the double bond which is alpha,beta- to the carboxy group is isomerised to Z configuration. A synthetic retinoid, it is used for the treatment of severe cases of acne and other skin diseases.	
MONDO:0001846	uterine corpus bizarre leiomyoma	biolink:Disease	mondo	NCIT:C40167|UMLS:C1519853|DOID:13958		bizarre leiomyoma of body of uterus|uterine corpus leiomyoma, atypical variant|uterine corpus bizarre leiomyoma|body of uterus bizarre leiomyoma|uterine corpus leiomyoma with bizarre nuclei|uterine corpus Symplastic leiomyoma	http://purl.obolibrary.org/obo/MONDO_0001846	A morphologic variant of uterine corpus leiomyoma characterized by significant cytologic atypia. The atypical cells are large with pleomophic hyperchromatic nuclei.	DOID:13958|UMLS:C1519853|NCIT:C40167
MONDO:0001845	uterine corpus lipoleiomyoma	biolink:Disease	mondo	NCIT:C40168|EFO:1000614|UMLS:C1519856|DOID:13957		uterine corpus lipomatous leiomyoma	http://purl.obolibrary.org/obo/MONDO_0001845	A rare morphologic variant of uterine corpus leiomyoma characterized by the presence of scattered islands of mature adipocytes within the smooth muscle neoplasm.	DOID:13957|UMLS:C1519856|NCIT:C40168
HGNC:5351	ICOS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5351		
MONDO:0001849	chronic orbital inflammation	biolink:Disease	mondo	DOID:1397|ICD10:H05.1|SCTID:44729001|COHD:433773|ICD9:376.1|ICD9:376.10|UMLS:C0155261		chronic inflammation of orbit	http://purl.obolibrary.org/obo/MONDO_0001849		UMLS:C0155261|DOID:1397|SNOMEDCT:44729001
MONDO:0001822	hypolipoproteinemia (disease)	biolink:Disease	mondo	DOID:1387|HP:0010981|ICD10:E78.6|MESH:D007009|SCTID:363140000|ICD9:272.5|GARD:0008394		hypolipoproteinemia|lipoprotein deficiencies|hypolipoproteinaemia	http://purl.obolibrary.org/obo/MONDO_0001822	Conditions with abnormally low levels of lipoproteins in the blood. This may involve any of the lipoprotein subclasses, including alpha-lipoproteins (high-density lipoproteins); beta-lipoproteins (low-density lipoproteins); and prebeta-lipoproteins (very-low-density lipoproteins).	MESH:D007009|DOID:1387|SNOMEDCT:363140000
MONDO:0001821	hypoactive sexual desire disorder	biolink:Disease	mondo	DOID:13868|SCTID:270903007|COHD:443262|ICD10:F52.0|NCIT:C94337|ICD9:302.71		lack or loss of sexual desire	http://purl.obolibrary.org/obo/MONDO_0001821	A disorder characterized by a recurrent or persistent lack of desire for sexual activity. The lack of sexual desire is not attributable to another psychiatric disorder or to the physiological effects of substance use or a general medical condition.	DOID:13868|NCIT:C94337|SNOMEDCT:270903007
MONDO:0001820	focal labyrinthitis	biolink:Disease	mondo	UMLS:C0155505|DOID:13867|ICD9:386.32|SCTID:61794006		circumscribed labyrinthitis	http://purl.obolibrary.org/obo/MONDO_0001820	A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma.	DOID:13867|UMLS:C0155505|SNOMEDCT:61794006
OIO:hasDbXref	database_cross_reference	biolink:OntologyClass	mondo				http://www.geneontology.org/formats/oboInOwl#hasDbXref		
MONDO:0013804	obsolete intellectual disability, autosomal dominant 12	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0013804		
MONDO:0013805	intellectual disability, autosomal dominant 13	biolink:Disease	mondo	OMIM:614563|DOID:0070043|UMLS:C3281202		autosomal dominant intellectual disability 13|MRD13|intellectual disability, autosomal dominant type 13|autosomal dominant non-syndromic intellectual disability 13|mental retardation, autosomal dominant type 13|DYNC1H1 autosomal dominant non-syndromic intellectual disability|autosomal dominant mental retardation 13|intellectual disability, autosomal dominant 13; MRD13|mental retardation, autosomal dominant 13; MRD13|intellectual disability, autosomal dominant, 13, with neuronal migration defects|intellectual disability, autosomal dominant 13|mental retardation, autosomal dominant 13, with neuronal migration defects|autosomal dominant non-syndromic intellectual disability caused by mutation in DYNC1H1|mental retardation, autosomal dominant 13|mental retardation, autosomal dominant, 13, with neuronal migration defects|intellectual disability, autosomal dominant 13, with neuronal migration defects	http://purl.obolibrary.org/obo/MONDO_0013805	Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DYNC1H1 gene.	UMLS:C3281202|DOID:0070043|http://identifiers.org/omim/614563
MONDO:0013802	infantile cerebellar-retinal degeneration	biolink:Disease	mondo	DOID:0050883|GARD:0013264|OMIM:614559|UMLS:C3281192|ICD10:E88.8|Orphanet:313850	ordo_disease|gard_rare	infantile cerebellar-retinal degeneration; ICRD|infantile cerebellar-retinal degeneration|infantile cerebellar retinal degeneration|ICRD	http://purl.obolibrary.org/obo/MONDO_0013802	Infantile cerebellar retinal degeneration (ICRD) is a genetic condition present from birth (congenital) that involves the brain and eyes. Individuals with this condition usually develop symptoms around six months of age including developmental delays, low muscle tone (hypotonia), and seizures. Other symptoms may include head bobbing, abnormal muscle twitching and movement, and loss of brain cells in the main part of the brain called the cerebellum. Eye findings in individuals with this condition may include retinal degeneration (weakening of the layer of tissue in the back of the eye that senses light), strabismus (crossed eyes), and nystagmus (fast, uncontrollable movements of the eyes). ICRD is caused by mutations in the ACO2 gene and is inherited in an autosomal recessive manner. While there is still no cure for this condition, treatment options will depend on the type and severity of symptoms.	DOID:0050883|UMLS:C3281192|ORPHA:313850|http://identifiers.org/omim/614559
MONDO:0013803	leukoencephalopathy with calcifications and cysts	biolink:Disease	mondo	Orphanet:542310|UMLS:C3281200|OMIM:614561|MESH:C000598644	ordo_disease	LCC|leukoencephalopathy, brain calcifications, and cysts|Labrune syndrome|leukoencephalopathy, brain calcifications, and cysts; LCC	http://purl.obolibrary.org/obo/MONDO_0013803		ORPHA:542310|UMLS:C3281200|MESH:C000598644|http://identifiers.org/omim/614561
MONDO:0013808	Maffucci syndrome	biolink:Disease	mondo	ICD10:Q78.4|Orphanet:163634|GARD:0006958|DOID:0060221|UMLS:C0024454|SCTID:46041001|OMIM:614569|NCIT:C3213	ordo_disease|gard_rare	Maffucci syndrome|Chondroplasia angiomatosis|Kast syndrome|chondrodysplasia with hemangioma|enchondromatosis with hemangiomata|Maffucci's anomalad|enchondromatosis with multiple cavernous hemangiomas|Dyschondroplasia and cavernous hemangioma|multiple enchondromatosis, Maffucci type|hemangiomata with Dyschondroplasia|hemangiomatosis Chondrodystrophica|multiple Angiomas and Endochondromas|Dyschondrodysplasia with hemangiomas	http://purl.obolibrary.org/obo/MONDO_0013808	Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas.	ORPHA:163634|UMLS:C0024454|DOID:0060221|NCIT:C3213|SNOMEDCT:46041001|http://identifiers.org/omim/614569
NCBITaxon:64895	Borreliella	organism taxon	mondo	PMID:24744012|PMID:10758897|PMID:27930271|PMID:31836459|PMID:31722850|GC_ID:11|PMID:31454394|PMID:10515907|PMID:7981102|PMID:8934900|PMID:16585709|PMID:8995795|PMID:30586413|PMID:30154058|PMID:8573491|PMID:28141502|PMID:9336916		Lyme Disease Borrelia|Borrelia burgdorferi sensu lato|Borrelia burgdorferi group	http://purl.obolibrary.org/obo/NCBITaxon_64895		
MONDO:0013809	cerebellar ataxia, neuropathy, and vestibular areflexia syndrome	biolink:Disease	mondo	OMIM:614575|UMLS:C3281223		cerebellar ataxia, neuropathy, and vestibular areflexia syndrome|CANVAS|cerebellar ataxia, neuropathy, and vestibular areflexia syndrome; CANVAS	http://purl.obolibrary.org/obo/MONDO_0013809		UMLS:C3281223|http://identifiers.org/omim/614575
MONDO:0013806	familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	biolink:Disease	mondo	OMIM:614564|Orphanet:313846|UMLS:C3281203	ordo_disease	cutaneous telangiectasia and cancer syndrome, familial; FCTCS|cutaneous telangiectasia and cancer syndrome, familial|FCTCS|familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome|telangiectasia, cutaneous, and cancer syndrome, familial	http://purl.obolibrary.org/obo/MONDO_0013806		UMLS:C3281203|ORPHA:313846|http://identifiers.org/omim/614564
MONDO:0013807	congenital stationary night blindness 1E	biolink:Disease	mondo	OMIM:614565|DOID:0110869|UMLS:C3281215		congenital stationary night blindness type 1E|night blindness, congenital stationary, type 1E|CSNB1E|congenital stationary night blindness caused by mutation in GPR179|GPR179 congenital stationary night blindness|congenital stationary night blindness 1E autosomal recessive|night blindness, congenital stationary, type 1E; CSNB1E|Csnb, complete, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0013807	Any congenital stationary night blindness in which the cause of the disease is a mutation in the GPR179 gene.	UMLS:C3281215|DOID:0110869|http://identifiers.org/omim/614565
MONDO:0013811	combined oxidative phosphorylation defect type 9	biolink:Disease	mondo	OMIM:614582|ICD10:I42.2|UMLS:C3281234|DOID:0111472|Orphanet:319509|SCTID:763209008	ordo_disease	combined oxidative phosphorylation deficiency 9; COXPD9|combined oxidative phosphorylation deficiency 9|MRPL3 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in MRPL3|combined oxidative phosphorylation deficiency type 9|COXPD9	http://purl.obolibrary.org/obo/MONDO_0013811	Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V.	DOID:0111472|UMLS:C3281234|SNOMEDCT:763209008|http://identifiers.org/omim/614582|ORPHA:319509
MONDO:0013812	Baraitser-winter syndrome 2	biolink:Disease	mondo	UMLS:C3281235|OMIM:614583		Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTG1|Baraitser-Winter syndrome type 2|Baraitser-WINTER syndrome 2; BRWS2|BRWS2|Baraitser-winter syndrome 2|ACTG1 Baraitser-Winter cerebrofrontofacial syndrome	http://purl.obolibrary.org/obo/MONDO_0013812	Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTG1 gene.	UMLS:C3281235|http://identifiers.org/omim/614583
MONDO:0013810	COG6-CGD	biolink:Disease	mondo	Orphanet:464443|DOID:0070264|UMLS:C3553230|GARD:0010944|ICD10:E77.8|OMIM:614576	ordo_disease	CDG IIL|congenital disorder of glycosylation type IIL|CDG syndrome type IIL|congenital disorder of glycosylation type 2l|congenital disorder of glycosylation, type IIL|CDGIIl|CDG-IIL|COG6-CDG (CDG-IIL)|congenital disorder of glycosylation, type IIL; CDG2L|CDG2L	http://purl.obolibrary.org/obo/MONDO_0013810		ORPHA:464443|UMLS:C3553230|DOID:0070264|http://identifiers.org/omim/614576
MONDO:0001815	extrapyramidal and movement disease	biolink:Disease	mondo	DOID:13839|ICD10:G25.9|ICD10:G20-G26|UMLS:C0477355|ICD9:333.90			http://purl.obolibrary.org/obo/MONDO_0001815		UMLS:C0477355|DOID:13839
MONDO:0001814	obsolete patent ductus arteriosus	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001814		
MONDO:0001813	squamous blepharitis	biolink:Disease	mondo	DOID:13825|ICD9:373.02|ICD10:H01.02|SCTID:58912008|UMLS:C0155174|MEDGEN:509829|COHD:438430|ICD10:H01.021-H01.029			http://purl.obolibrary.org/obo/MONDO_0001813		UMLS:C0155174|DOID:13825|SNOMEDCT:58912008
CHEBI:17883	hydrogen chloride	biolink:ChemicalSubstance	mondo			chlorane|HCl|chlorure d'hydrogene|Hydrochloride|chloridohydrogen|Wasserstoffchlorid|Chlorwasserstoff|cloruro de hidrogeno|hydrochloric acid|[HCl]|Hydrogen chloride|Hydrogenchlorid|hydrogen chloride	http://purl.obolibrary.org/obo/CHEBI_17883	A mononuclear parent hydride consisting of covalently bonded hydrogen and chlorine atoms.	
MONDO:0001812	parasitic eyelid infestation	biolink:Disease	mondo	UMLS:C0155183|ICD9:373.6|DOID:13823|SCTID:193922006		parasitic eyelid infestation|parasitic infestation of eyelid	http://purl.obolibrary.org/obo/MONDO_0001812		UMLS:C0155183|DOID:13823|SNOMEDCT:193922006
MONDO:0001819	multiple cranial nerve palsy	biolink:Disease	mondo	SCTID:78152008|ICD9:352.6|DOID:13866|ICD10:G52.7|UMLS:C0154733|COHD:437543		multiple cranial nerve palsies	http://purl.obolibrary.org/obo/MONDO_0001819		SNOMEDCT:78152008|DOID:13866|UMLS:C0154733
MONDO:0001818	facial neuralgia	biolink:Disease	mondo	SCTID:4151000119102|MESH:D005156|DOID:13865|ICD9:351.8		neuralgia of facial nerve|facial nerve neuralgia	http://purl.obolibrary.org/obo/MONDO_0001818	Neuralgic syndromes which feature chronic or recurrent facial pain as the primary manifestation of disease. Disorders of the trigeminal and facial nerves are frequently associated with these conditions.	SNOMEDCT:4151000119102|DOID:13865|MESH:D005156
MONDO:0001817	acute closed-angle glaucoma	biolink:Disease	mondo	ICD9:365.22|ICD10:H40.21|COHD:436108|UMLS:C0154946|DOID:13862|SCTID:30041005		acute angle-closure glaucoma|angle-closure glaucoma, acute	http://purl.obolibrary.org/obo/MONDO_0001817	Acute form of angle-closure glaucoma.	SNOMEDCT:30041005|DOID:13862|UMLS:C0154946
MONDO:0001816	scleroperikeratitis	biolink:Disease	mondo	COHD:432637|ICD9:379.05|SCTID:42574005|UMLS:C0155355|ICD10:H15.04|DOID:13861		scleritis with corneal involvement	http://purl.obolibrary.org/obo/MONDO_0001816		SNOMEDCT:42574005|DOID:13861|UMLS:C0155355
MONDO:0001833	lacrimal duct obstruction	biolink:Disease	mondo	MESH:D007767|SCTID:416920000|DOID:13929		obstruction of lacrimal canaliculus|blocked lacrimal canaliculus|obstruction of lacrimal ducts	http://purl.obolibrary.org/obo/MONDO_0001833	Blockage of the tear duct.	MESH:D007767|DOID:13929|SNOMEDCT:416920000|NCIT:C34757
MONDO:0001832	bacterial esophagitis	biolink:Disease	mondo	DOID:13921|UMLS:C0341108|NCIT:C27106|SCTID:235601001		bacterial esophagitis	http://purl.obolibrary.org/obo/MONDO_0001832	An acute bacterial infection that affects the esophagus. Symptoms include severe pain on swallowing and retrosternal pain. Endoscopic examination reveals esophageal mucosal ulcerations and pseudomembranous formations.	SNOMEDCT:235601001|UMLS:C0341108|NCIT:C27106|DOID:13921
MONDO:0001831	irregular astigmatism	biolink:Disease	mondo	UMLS:C0152194|SCTID:47099006|DOID:13919|COHD:377558|ICD10:H52.21|ICD9:367.22			http://purl.obolibrary.org/obo/MONDO_0001831		SNOMEDCT:47099006|DOID:13919|UMLS:C0152194
MONDO:0001830	somatization disorder	biolink:Disease	mondo	ICD10:F45.0|ICD9:300.81|DOID:13918|COHD:441545|SCTID:397923000		Polysomatising disorder|Briquet's disorder|Somatisation disorder	http://purl.obolibrary.org/obo/MONDO_0001830	Disorders having the presence of physical symptoms that suggest a general medical condition but that are not fully explained by a another medical condition, by the direct effects of a substance, or by another mental disorder. The symptoms must cause clinically significant distress or impairment in social, occupational, or other areas of functioning. In contrast to factitious disorders and malingering, the physical symptoms are not under voluntary control. (apa, dsm-V)	DOID:13918|SNOMEDCT:397923000
CL:0000710	neurecto-epithelial cell	biolink:Cell	mondo	BTO:0004301|FMA:70557		neuroepithelial cell	http://purl.obolibrary.org/obo/CL_0000710	Epithelial cells derived from neural plate and neural crest.	
UBERON:0010425	internal naris	biolink:AnatomicalEntity	mondo			internal choana|internal nostril|choana|choanae|internal nares	http://purl.obolibrary.org/obo/UBERON_0010425	A naris that is located inside the nasal cavity and connects to the pharynx.	
UBERON:0010426	oropharyngeal choana	biolink:AnatomicalEntity	mondo			palatal cleft|oropharyngeal naris|apertura nasalis interna|cleft palate|palatal choana|choana of oropharynx	http://purl.obolibrary.org/obo/UBERON_0010426	opening/conduit between the nasal cavity and the oropharynx via the roof of the mouth.	
UBERON:0010424	distal segment of rib	biolink:AnatomicalEntity	mondo			distal rib segment|vertical segment of rib|distal rib|sternal rib|distal part of rib	http://purl.obolibrary.org/obo/UBERON_0010424		
MONDO:0013800	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	biolink:Disease	mondo	ICD10:Q79.6|UMLS:C3281160|Orphanet:300179|OMIM:614557|SCTID:720859009	ordo_disease	Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness|EDS, kyphoscoliotic and hearing loss type|EDSKMH|Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type|EDSKSCL2|Ehlers-Danlos syndrome, kyphoscoliotic type, 2; EDSKSCL2|EDS with progressive kyphoscoliosis, myopathy, and hearing loss|Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|Ehlers-Danlos syndrome, kyphoscoliotic type, 2|Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|EDS with progressive kyphoscoliosis, myopathy, and deafness|Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss; EDSKMH	http://purl.obolibrary.org/obo/MONDO_0013800	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.	UMLS:C3281160|ORPHA:300179|http://identifiers.org/omim/614557|SNOMEDCT:720859009
MONDO:0013801	developmental and epileptic encephalopathy, 13	biolink:Disease	mondo	OMIM:614558|SCTID:765170001|UMLS:C3281191|GARD:0013085|DOID:0080445		early infantile epileptic encephalopathy caused by mutation in SCN8A|SCN8A encephalopathy|epileptic encephalopathy, early infantile, 13; EIEE13|epileptic encephalopathy, early infantile, 13|SCN8A epilepsy|DEE13|epileptic encephalopathy, early infantile, type 13|early infantile epileptic encephalopathy-13|EIEE13|SCN8A early infantile epileptic encephalopathy	http://purl.obolibrary.org/obo/MONDO_0013801	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN8A gene.	DOID:0080445|SNOMEDCT:765170001|UMLS:C3281191|http://identifiers.org/omim/614558
UBERON:0010427	ciliary processes	biolink:AnatomicalEntity	mondo			processus ciliares|ciliary process|set of ciliary processes|processus ciliares|ciliary processes set|ciliary processes	http://purl.obolibrary.org/obo/UBERON_0010427	The ciliary processes are formed by the inward folding of the various layers of the choroid, i.e. , the choroid proper and the lamina basalis, and are received between corresponding foldings of the suspensory ligament of the lens.	
UBERON:0010428	flat bone	biolink:AnatomicalEntity	mondo			os planum	http://purl.obolibrary.org/obo/UBERON_0010428	A bone that is shaped as a broad flat plate and composed of two thin layers of compact tissue enclosing between them a variable quantity of cancellous tissue, which is the location of red bone marrow.	
MONDO:0001826	obsolete hypobetalipoproteinemia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001826		
MONDO:0001825	squamous papilloma	biolink:Disease	mondo	EFO:1001970|ICDO:8052/0|DOID:139|NCIT:C3712|UMLS:C0205874		epidermoid cell papilloma|epidermoid papilloma|papilloma, squamous cell, benign|keratotic papilloma|squamous papilloma|squamous cell papilloma|squamous cell papilloma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0001825	A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy. Most frequently it arises in the oral cavity, nasopharynx, larynx, esophagus, vagina, and vulva.	UMLS:C0205874|NCIT:C3712|DOID:139
MONDO:0001824	polyneuropathy	biolink:Disease	mondo	DOID:1389|UMLS:C0152025|ICD9:356.9|MESH:D011115|COHD:4174262|ICD9:357.4|ICD10:G62.9|SCTID:42345000|ICD10:A69.22|NCIT:C26951		polyneuropathy	http://purl.obolibrary.org/obo/MONDO_0001824	A disease or disorder affecting more than one nerve.	SNOMEDCT:42345000|MESH:D011115|DOID:1389|UMLS:C0152025|NCIT:C26951
MONDO:0001823	sick sinus syndrome	biolink:Disease	mondo	ICD10:I49.5|OMIMPS:608567|MESH:D012804|DOID:13884|COHD:4261842|NCIT:C62244|SCTID:36083008		SSS|sinus node infection	http://purl.obolibrary.org/obo/MONDO_0001823	A constellation of signs and symptoms which may include syncope, fatigue, dizziness, and alternating periods of bradycardia and atrial tachycardia, which is caused by sinoatrial node dysfunction.	NCIT:C62244|MESH:D012804|SNOMEDCT:36083008|DOID:13884
MONDO:0001829	lumbosacral plexus lesion	biolink:Disease	mondo	COHD:197852|SCTID:4062006|UMLS:C0154735|DOID:13913|ICD9:353.1		nerve plexus disease of lumbosacral nerve plexus|lumbosacral plexus lesions|lumbosacral nerve plexus nerve plexus disease	http://purl.obolibrary.org/obo/MONDO_0001829	A nerve plexus disease that involves the lumbosacral nerve plexus.	SNOMEDCT:4062006|DOID:13913|UMLS:C0154735
MONDO:0001828	acquired color blindness	biolink:Disease	mondo	COHD:377865|DOID:13912|ICD9:368.55|NCIT:C118712|SCTID:71676008|ICD10:H53.52		acquired color vision deficiency|acquired color vision deficiencies|acquired color vision disorder	http://purl.obolibrary.org/obo/MONDO_0001828	Non-heritable difficulty in distinguishing colors.	NCIT:C118712|DOID:13912|SNOMEDCT:71676008
MONDO:0001827	white piedra	biolink:Disease	mondo	UMLS:C0040249|DOID:13902|SCTID:35586003|ICD9:111.2|ICD10:B36.2|COHD:132834		Tinea blanca	http://purl.obolibrary.org/obo/MONDO_0001827	A superficial mycosis due to T beigelii that is characterized by a soft, friable, beige nodule of the distal ends of hair shafts.	UMLS:C0040249|DOID:13902|SNOMEDCT:35586003
GO:0003677	DNA binding	biolink:OntologyClass	mondo			structure specific DNA binding|plasmid binding|structure-specific DNA binding|microtubule/chromatin interaction	http://purl.obolibrary.org/obo/GO_0003677	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).	
GO:0003674	molecular_function	biolink:OntologyClass	mondo			molecular function	http://purl.obolibrary.org/obo/GO_0003674	A molecular process that can be carried out by the action of a single macromolecular machine, usually via direct physical interactions with other molecular entities. Function in this sense denotes an action, or activity, that a gene product (or a complex) performs. These actions are described from two distinct but related perspectives: (1) biochemical activity, and (2) role as a component in a larger system/process.	
GO:0001012		biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0001012		
GO:0003676	nucleic acid binding	biolink:OntologyClass	mondo			base pairing	http://purl.obolibrary.org/obo/GO_0003676	Interacting selectively and non-covalently with any nucleic acid.	
OIO:consider	consider	biolink:OntologyClass	mondo				http://www.geneontology.org/formats/oboInOwl#consider		
GO:0015669	gas transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0015669	The directed movement of substances that are gaseous in normal living conditions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
NCBITaxon:356	Rhizobiales	organism taxon	mondo	GC_ID:11|PMID:16403855|PMID:1854635		alpha-2 proteobacteria|rhizobacteria|Rhizobiaceae group	http://purl.obolibrary.org/obo/NCBITaxon_356		
CHEBI:27177	L-tyrosine derivative	biolink:ChemicalSubstance	mondo			L-tyrosine derivatives	http://purl.obolibrary.org/obo/CHEBI_27177	A proteinogenic amino acid derivative resulting from reaction of L-tyrosine at the amino group or the carboxy group, or from the replacement of any hydrogen of L-tyrosine by a heteroatom.	
NCBITaxon:3398	Magnoliopsida	organism taxon	mondo	GC_ID:1|PMID:25249442		angiosperms|Angiospermae|Magnoliophyta|flowering plants|flowering plants	http://purl.obolibrary.org/obo/NCBITaxon_3398		
HGNC:7905	NPHP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7905		
HGNC:7907	NPHP3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7907		
HP:0012393	Allergy	biolink:PhenotypicFeature	mondo	MSH:D006967|SNOMEDCT_US:419076005|UMLS:C1527304		Allergy	http://purl.obolibrary.org/obo/HP_0012393	An allergy is an immune response or reaction to substances that are usually not harmful.	
HGNC:7908	NPHS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7908		
NCBITaxon:2560066	Matonaviridae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2560066		
NCBITaxon:2560076	Orthoparamyxovirinae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2560076		
GO:1904409	regulation of secretory granule organization	biolink:OntologyClass	mondo			regulation of secretory granule organisation|regulation of secretory granule organization and biogenesis	http://purl.obolibrary.org/obo/GO_1904409	Any process that modulates the frequency, rate or extent of secretory granule organization.	
UBERON:0009503	mesenchyme of hindgut	biolink:AnatomicalEntity	mondo			hindgut associated mesenchyme	http://purl.obolibrary.org/obo/UBERON_0009503	Mesenchyme that is part of a developing hindgut.	
CHEBI:27171	organic heterobicyclic compound	biolink:ChemicalSubstance	mondo			heterobicyclic compounds|organic heterobicyclic compounds	http://purl.obolibrary.org/obo/CHEBI_27171		
UBERON:0009504	mesenchyme of main bronchus	biolink:AnatomicalEntity	mondo			main bronchus associated mesenchyme|primary bronchus mesenchyme|principal bronchus mesenchyme	http://purl.obolibrary.org/obo/UBERON_0009504	Mesenchyme that is part of a developing main bronchus.	
UBERON:0009505	mesenchyme of trachea	biolink:AnatomicalEntity	mondo			trachea associated mesenchyme	http://purl.obolibrary.org/obo/UBERON_0009505	Mesenchyme that is part of a developing trachea.	
UBERON:0009506	mesenchyme of middle ear	biolink:AnatomicalEntity	mondo			middle ear associated mesenchyme|otic mesenchyme	http://purl.obolibrary.org/obo/UBERON_0009506	Mesenchyme that is part of a developing middle ear.	
CHEBI:39144	Lewis base	biolink:ChemicalSubstance	mondo			base de Lewis|electron donor|Lewis-Base|Lewis base|donneur d'une paire d'electrons	http://purl.obolibrary.org/obo/CHEBI_39144	A molecular entity able to provide a pair of electrons and thus capable of forming a covalent bond with an electron-pair acceptor (Lewis acid), thereby producing a Lewis adduct.	
CHEBI:39142	Bronsted base	biolink:ChemicalSubstance	mondo			Bronsted base|accepteur d'hydron|base de Bronsted|Bronsted-Base|hydron acceptor	http://purl.obolibrary.org/obo/CHEBI_39142	A molecular entity capable of accepting a hydron from a donor (Bronsted acid).	
CHEBI:39141	Bronsted acid	biolink:ChemicalSubstance	mondo			acide de Bronsted|hydron donor|Bronsted acid|Bronsted-Saeure|donneur d'hydron	http://purl.obolibrary.org/obo/CHEBI_39141	A molecular entity capable of donating a hydron to an acceptor (Bronsted base).	
NCBITaxon:2560074	Mammantavirinae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2560074		
UBERON:0009500	periotic mesenchyme	biolink:AnatomicalEntity	mondo			otocyst mesenchyme|periotic region|otocyst associated mesenchyme	http://purl.obolibrary.org/obo/UBERON_0009500	Anatomical region that surrounds the otic vesicle.	
UBERON:0009501	mesenchyme of fronto-nasal process	biolink:AnatomicalEntity	mondo			frontonasal mesenchyme|naso-frontal mesenchyme	http://purl.obolibrary.org/obo/UBERON_0009501	The embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the frontonasal region of the head	
CL:0000787	memory B cell	biolink:Cell	mondo			memory B lymphocyte|memory B-lymphocyte|memory B-cell	http://purl.obolibrary.org/obo/CL_0000787	A memory B cell is a mature B cell that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin. This cell type has the phenotype CD19-positive, CD20-positive, MHC Class II-positive, and CD138-negative.	
CL:0000788	naive B cell	biolink:Cell	mondo			naive B-cell|naive B lymphocyte|naive B-lymphocyte	http://purl.obolibrary.org/obo/CL_0000788	A naive B cell is a mature B cell that has the phenotype surface IgD-positive, surface IgM-positive, CD20-positive, CD27-negative and that has not yet been activated by antigen in the periphery.	
CL:0000789	alpha-beta T cell	biolink:Cell	mondo			alpha-beta T lymphocyte|alpha-beta T-lymphocyte|alpha-beta T-cell	http://purl.obolibrary.org/obo/CL_0000789	A T cell that expresses an alpha-beta T cell receptor complex.	
HGNC:7939	NPPA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7939		
GO:1904411	positive regulation of secretory granule organization	biolink:OntologyClass	mondo			activation of secretory granule organisation|upregulation of secretory granule organization and biogenesis|up regulation of secretory granule organization|activation of secretory granule organization and biogenesis|upregulation of secretory granule organisation|up-regulation of secretory granule organization|activation of secretory granule organization|positive regulation of secretory granule organisation|up-regulation of secretory granule organization and biogenesis|up regulation of secretory granule organisation|up regulation of secretory granule organization and biogenesis|upregulation of secretory granule organization|up-regulation of secretory granule organisation|positive regulation of secretory granule organization and biogenesis	http://purl.obolibrary.org/obo/GO_1904411	Any process that activates or increases the frequency, rate or extent of secretory granule organization.	
CHEBI:29793	hydridodioxygen(1+)	biolink:ChemicalSubstance	mondo			[HO2](+)|hydridodioxygen(1+)|dioxidenium|HOO(+)|HO2(+)	http://purl.obolibrary.org/obo/CHEBI_29793		
GO:1904410	negative regulation of secretory granule organization	biolink:OntologyClass	mondo			negative regulation of secretory granule organization and biogenesis|down regulation of secretory granule organisation|down-regulation of secretory granule organization and biogenesis|inhibition of secretory granule organisation|down-regulation of secretory granule organisation|down regulation of secretory granule organization and biogenesis|negative regulation of secretory granule organisation|downregulation of secretory granule organization|downregulation of secretory granule organization and biogenesis|down regulation of secretory granule organization|inhibition of secretory granule organization|down-regulation of secretory granule organization|downregulation of secretory granule organisation|inhibition of secretory granule organization and biogenesis	http://purl.obolibrary.org/obo/GO_1904410	Any process that stops, prevents or reduces the frequency, rate or extent of secretory granule organization.	
CL:0000782	myeloid dendritic cell	biolink:Cell	mondo	BTO:0004721		veiled cell|mDC|CD11c+CD123- DC|interdigitating cell	http://purl.obolibrary.org/obo/CL_0000782	A dendritic cell of the myeloid lineage.	
HGNC:7944	NPR2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7944		
CL:0000785	mature B cell	biolink:Cell	mondo			mature B-cell|mature B lymphocyte|mature B-lymphocyte	http://purl.obolibrary.org/obo/CL_0000785	A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen.	
CL:0000786	plasma cell	biolink:Cell	mondo	FMA:70574|BTO:0000392		plasmacyte|effector B cell|plasmocyte|effector B-cell|plasma B cell|plasma B-cell	http://purl.obolibrary.org/obo/CL_0000786	A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin.	
NCBITaxon:144051	Cripavirus	organism taxon	mondo	GC_ID:1		Cricket paralysis-like viruses	http://purl.obolibrary.org/obo/NCBITaxon_144051		
GO:1904427	positive regulation of calcium ion transmembrane transport	biolink:OntologyClass	mondo			up-regulation of calcium ion transmembrane transport|upregulation of transmembrane calcium transport|positive regulation of calcium ion membrane transport|up regulation of calcium ion transmembrane transport|up regulation of calcium ion membrane transport|activation of calcium ion transmembrane transport|activation of calcium ion membrane transport|up-regulation of calcium ion membrane transport|up-regulation of transmembrane calcium transport|upregulation of calcium ion transmembrane transport|up regulation of transmembrane calcium transport|activation of transmembrane calcium transport|positive regulation of transmembrane calcium transport|upregulation of calcium ion membrane transport	http://purl.obolibrary.org/obo/GO_1904427	Any process that activates or increases the frequency, rate or extent of calcium ion transmembrane transport.	
CL:0000790	immature alpha-beta T cell	biolink:Cell	mondo			immature alpha-beta T-lymphocyte|immature alpha-beta T-cell|immature alpha-beta T lymphocyte	http://purl.obolibrary.org/obo/CL_0000790	An alpha-beta T cell that has an immature phenotype and has not completed T cell selection.	
CL:0000791	mature alpha-beta T cell	biolink:Cell	mondo			mature alpha-beta T-cell|mature alpha-beta T lymphocyte|mature alpha-beta T-lymphocyte	http://purl.obolibrary.org/obo/CL_0000791	A alpha-beta T cell that has a mature phenotype.	
NCBITaxon:119088	Enoplea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_119088		
NCBITaxon:119089	Chromadorea	organism taxon	mondo	GC_ID:1		Adenophorea	http://purl.obolibrary.org/obo/NCBITaxon_119089		
HP:0000359	Abnormality of the inner ear	biolink:PhenotypicFeature	mondo	UMLS:C4021809		Inner ear abnormality|Abnormality of the inner ear	http://purl.obolibrary.org/obo/HP_0000359	An abnormality of the inner ear.	
MONDO:0023272	goniodysgenesis mental retardation short stature	biolink:Disease	mondo	GARD:0002545	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023272		
MONDO:0023273	pigmented dermatofibrosarcoma protuberans	biolink:Disease	mondo	NCIT:C9430|UMLS:C0334464|SCTID:398670003|GARD:0009624	gard_rare	Pigmented Dermatofibrosarcoma Protuberans (Bednar Tumor)|pigmented dermatofibrosarcoma protuberans|DFSPs, Pigmented|Pigmented storiform neurofibroma|Dermatofibrosarcoma Protuberan, Pigmented|Protuberan, Pigmented Dermatofibrosarcoma|Tumor, Bednar|Pigmented Dermatofibrosarcoma Protuberans|Pigmented dermatofibrosarcoma protuberans of skin|Pigmented DFSPs|Bednar tumor|Tumor, Bednar's|Pigmented Dermatofibrosarcoma Protuberan|Dermatofibrosarcoma Protuberans, Pigmented|Protuberans, Pigmented Dermatofibrosarcoma|Bednar's Tumor|bednar tumor|DFSP, Pigmented|pigmented dermatofibrosarcoma protuberans (bednar tumor)|Pigmented dermatofibrosarcoma|Bednar Tumor|Bednars Tumor|Pigmented DFSP|Pigmented dermatofibrosarcoma protuberans	http://purl.obolibrary.org/obo/MONDO_0023273	A morphologic variant of dermatofibrosarcoma protuberans characterized by the presence of melanin-pigmented dendritic cells.	UMLS:C0334464|SNOMEDCT:398670003|NCIT:C9430
MONDO:0023275	Graham-Boyle-Troxell syndrome	biolink:Disease	mondo	ICD10:Q85.8|SCTID:707530009|ICD9:759.6|MESH:C537292|Orphanet:2111|GARD:0002557|UMLS:C2931468	ordo_disease|gard_rare	cystic hamartoma of lung and kidney|graham Boyle Troxell syndrome|cystic hamartomata of lung and kidney|Graham-Boyle-Troxell syndrome	http://purl.obolibrary.org/obo/MONDO_0023275	Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987.	UMLS:C2931468|ORPHA:2111|MESH:C537292|SNOMEDCT:707530009
MONDO:0011298	SCZD8	biolink:Disease	mondo	DOID:0070084|UMLS:C1864124|OMIM:603206		schizophrenia 8 with or without an affective disorder|schizophrenia 8; SCZD8|SCZD8|schizophrenia 8|schizophrenia susceptibility locus, chromosome 18-related	http://purl.obolibrary.org/obo/MONDO_0011298	A schizophrenia that has material basis in an autosomal dominant mutation of SCZD8 on chromosome 18p.	UMLS:C1864124|DOID:0070084|http://identifiers.org/omim/603206
MONDO:0011297	autosomal dominant nocturnal frontal lobe epilepsy 2	biolink:Disease	mondo	UMLS:C1864125|OMIM:603204|MESH:C566400|DOID:0060683		nocturnal frontal lobe epilepsy 2|ENFL2|autosomal dominant nocturnal frontal lobe epilepsy type 2|epilepsy, nocturnal frontal lobe, 2|epilepsy, nocturnal frontal lobe, 2; ENFL2	http://purl.obolibrary.org/obo/MONDO_0011297	An autosomal dominant nocturnal frontal lobe epilepsy that has material basis in variation in the chromosome region 15q24.	UMLS:C1864125|MESH:C566400|DOID:0060683|http://identifiers.org/omim/603204
MONDO:0011299	Huntington disease-like 1	biolink:Disease	mondo	Orphanet:157941|DOID:0090103|UMLS:C1864112|OMIM:603218|ICD10:G10|MESH:C566398	ordo_disease	HLN1|Huntington disease-like 1|Huntington-like neurodegenerative disorder, autosomal dominant|Huntington disease-like type 1|Huntington-like neurodegenerative disorder 1|HDL1|prion disease, early-onset, with prominent psychiatric features|autosomal dominant Huntington-like neurodegenerative disorder|Huntington-like neurodegenerative disorder 1|Huntington disease-like 1; HDL1|early-onset prion disease with prominent psychiatric features|PRNP neurodegenerative disease with chorea|neurodegenerative disease with chorea caused by mutation in PRNP|Huntington's disease-like 1	http://purl.obolibrary.org/obo/MONDO_0011299	Any neurodegenerative disease with chorea in which the cause of the disease is a mutation in the PRNP gene.	http://identifiers.org/omim/603218|UMLS:C1864112|ORPHA:157941|MESH:C566398|DOID:0090103
MONDO:0011290	dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation	biolink:Disease	mondo	UMLS:C1864183|OMIM:603133|MESH:C566408		dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation|dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0011290		MESH:C566408|http://identifiers.org/omim/603133|UMLS:C1864183
MONDO:0011292	dermatitis, atopic	biolink:Disease	mondo	COHD:133834|OMIM:603165		Atod|dermatitis, Atopic, 1|eczema, Atopic|dermatitis, atopic	http://purl.obolibrary.org/obo/MONDO_0011292		http://identifiers.org/omim/603165
MONDO:0011291	congenital disorder of glycosylation type 1C	biolink:Disease	mondo	Orphanet:79320|DOID:0080555|SCTID:709412006|OMIM:603147|UMLS:C2930997|GARD:0009829|MESH:C535741|ICD10:E77.8|NCIT:C126869	ordo_disease	congenital disorder of glycosylation, type Ic|carbohydrate-deficient glycoprotein syndrome, type 1 with deficient glycosylation of dolichol-linked oligosaccharide (formerly)|ALG6-CDG|carbohydrate-deficient glycoprotein syndrome, type V, formerly|CDGIc|carbohydrate-deficient glycoprotein syndrome, type V|ALG6-CDG (CDG-Ic)|carbohydrate-deficient glycoprotein syndrome type 1C|CDG 1C|CDG syndrome type Ic|congenital disorder of glycosylation type Ic|CDGS5 (formerly)|carbohydrate-deficient glycoprotein syndrome, type V (formerly)|glucosyltransferase 1 deficiency|CDG1C|CDG Ic|carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide, formerly|ALG6 congenital disorder of glycosylation|carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide|congenital disorder of glycosylation, type Ic; CDG1C|congenital disorder of glycosylation caused by mutation in ALG6|congenital disorder of glycosylation type 1c|carbohydrate deficient glycoprotein syndrome type Ic|CDG-Ic	http://purl.obolibrary.org/obo/MONDO_0011291	(1p31.3).	UMLS:C2930997|SNOMEDCT:709412006|DOID:0080555|ORPHA:79320|MESH:C535741|http://identifiers.org/omim/603147|NCIT:C126869
MONDO:0011294	SCZD5	biolink:Disease	mondo	DOID:0070081|OMIM:603175|UMLS:C1864153		schizophrenia 5|SCZD5|schizophrenia 5 with or without an affective disorder|schizophrenia 5; SCZD5|schizophrenia susceptibility locus, chromosome 6Q-related	http://purl.obolibrary.org/obo/MONDO_0011294	A schizophrenia that has material basis in a mutation on chromosome 6q13-q26.	DOID:0070081|http://identifiers.org/omim/603175|UMLS:C1864153
MONDO:0011293	Homocysteinemia	biolink:Disease	mondo	OMIM:603174|GARD:0008230|UMLS:C3495426	gard_rare	Homocysteinemia|hyperhomocysteinemia	http://purl.obolibrary.org/obo/MONDO_0011293		UMLS:C3495426|http://identifiers.org/omim/603174
MONDO:0011296	Meckel syndrome, type 2	biolink:Disease	mondo	MESH:C536131|DOID:0070116|UMLS:C1864148|ICD10:Q61.9|OMIM:603194|GARD:0008743	gard_rare	Meckel syndrome caused by mutation in TMEM216|Meckel syndrome 2|Meckel-Gruber syndrome, type 2|Meckel syndrome type 2|Meckel syndrome, type 2; MKS2|MKS2|TMEM216 Meckel syndrome|Meckel syndrome, type 2	http://purl.obolibrary.org/obo/MONDO_0011296	Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM216 gene.	DOID:0070116|MESH:C536131|http://identifiers.org/omim/603194|UMLS:C1864148
MONDO:0011295	SCZD7	biolink:Disease	mondo	DOID:0070083|OMIM:603176		SCZD7|schizophrenia 7|schizophrenia 7 with or without an affective disorder|schizophrenia susceptibility locus, chromosome 13Q-related|schizophrenia 7; SCZD7	http://purl.obolibrary.org/obo/MONDO_0011295	A schizophrenia that has material basis in an autosomal dominant mutation of SCZD7 on chromosome 13q32.	DOID:0070083|http://identifiers.org/omim/603176
NCBITaxon:119093	Trichuridae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_119093		
MONDO:0023267	goldstein hutt syndrome	biolink:Disease	mondo	MESH:C537282|UMLS:C2931465		trichomegaly, cataract, and hereditary spherocytosis|long eyelashes, cataract, and hereditary spherocytosis	http://purl.obolibrary.org/obo/MONDO_0023267		UMLS:C2931465|MESH:C537282
HP:0012332	Abnormal autonomic nervous system physiology	biolink:PhenotypicFeature	mondo	UMLS:C4022952		Autonomic dysregulation|Autonomic dysfunction|Dysautonomia	http://purl.obolibrary.org/obo/HP_0012332	A functional abnormality of the autonomic nervous system.	
NCBITaxon:15957	Phleum pratense	organism taxon	mondo	GC_ID:1		timothy|timothy grass	http://purl.obolibrary.org/obo/NCBITaxon_15957		
NCBITaxon:119095	Capillaria	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_119095		
HP:0012337	Abnormal homeostasis	biolink:PhenotypicFeature	mondo	UMLS:C4022950|MP:0001764			http://purl.obolibrary.org/obo/HP_0012337	An anomaly in the processes involved in the maintenance of an internal equilibrium.	
NCBITaxon:15956	Phleum	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_15956		
MONDO:0023263	glyceraldehyde-3-phosphate dehydrogenase deficiency	biolink:Disease	mondo	MESH:C536837|GARD:0002510|HGNC:4141|UMLS:C1291264	gard_rare	GAPDH deficiency	http://purl.obolibrary.org/obo/MONDO_0023263		UMLS:C1291264|MESH:C536837
MONDO:0011287	craniosynostosis-anal anomalies-porokeratosis syndrome	biolink:Disease	mondo	GARD:0009506|Orphanet:85199|MESH:C536789|OMIM:603116|ICD10:Q87.8|SCTID:720812002	ordo_malformation_syndrome	craniosynostosis and clavicular hypoplasia, delayed closure of the fontanel, anal anomalies and genitourinary malformations|Cap syndrome|CDAGS syndrome|craniosynostosis, anal anomalies, and porokeratosis|CAP syndrome	http://purl.obolibrary.org/obo/MONDO_0011287	Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S).	http://identifiers.org/omim/603116|SNOMEDCT:720812002|ORPHA:85199|MESH:C536789
MONDO:0011286	autosomal recessive nonsyndromic deafness 13	biolink:Disease	mondo	OMIM:603098|ICD10:H90.3|MESH:C566410|DOID:0110468|UMLS:C1864199		autosomal recessive nonsyndromic deafness type 13|autosomal recessive deafness 13|DFNB13|deafness, autosomal recessive 13; DFNB13|deafness, autosomal recessive 13	http://purl.obolibrary.org/obo/MONDO_0011286	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 7q34-q36.	http://identifiers.org/omim/603098|UMLS:C1864199|MESH:C566410|DOID:0110468
HP:0000365	Hearing impairment	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:103276001|SNOMEDCT_US:343087000|SNOMEDCT_US:95828007|SNOMEDCT_US:15188001|Fyler:4868|MSH:D034381|UMLS:C0339789|UMLS:C0011053|MSH:D003638|UMLS:C0018772|UMLS:C1384666		Hearing impairment|Hypacusis|Hypoacusis|Deafness|Hearing defect|Hearing loss	http://purl.obolibrary.org/obo/HP_0000365	A decreased magnitude of the sensory perception of sound.	
MONDO:0011289	apraxia of eyelid opening	biolink:Disease	mondo	OMIM:603119		apraxia of eyelid opening	http://purl.obolibrary.org/obo/MONDO_0011289		http://identifiers.org/omim/603119
HP:0000364	Hearing abnormality	biolink:PhenotypicFeature	mondo	UMLS:C4025860		Abnormal hearing|Hearing abnormality	http://purl.obolibrary.org/obo/HP_0000364	An abnormality of the sensory perception of sound.	
MONDO:0011288	spastic paraplegia, optic atrophy, microcephaly, and 10Y sex reversal	biolink:Disease	mondo	MESH:C566409|UMLS:C1864185|OMIM:603117		spastic paraplegia, optic atrophy, microcephaly, and XY SEX reversal	http://purl.obolibrary.org/obo/MONDO_0011288		http://identifiers.org/omim/603117|UMLS:C1864185|MESH:C566409
HP:0000366	Abnormality of the nose	biolink:PhenotypicFeature	mondo	UMLS:C2235909|SNOMEDCT_US:128274005|UMLS:C0240547|UMLS:C0265736|SNOMEDCT_US:72089000	hposlim_core	Nasal malformation|Nasal abnormality|Abnormality of the nose|Nasal anomaly|Anomaly of the nose|Deformity of the nose|Malformation of the nose|Nasal deformity	http://purl.obolibrary.org/obo/HP_0000366	An abnormality of the nose.	
MONDO:0011281	congenital myasthenic syndrome 5	biolink:Disease	mondo	UMLS:C1864233|MESH:C566415|NCIT:C129304|DOID:0110667|OMIM:603034		endplate acetylcholinesterase deficiency|EAD|congenital myasthenic syndrome Engel type|myasthenic syndrome, congenital, 5|congenital myasthenic syndrome type 5|Cms Ic, formerly|CMS Ic|congenital myasthenic syndrome type Ic, formerly|congenital myasthenic syndrome type Ic|end plate acetylcholinesterase deficiency|Cms Ic|CMS5|myasthenic syndrome, congenital, type 5|COLQ congenital myasthenic syndrome|myasthenic syndrome, congenital, 5; CMS5|myasthenic syndrome, congenital, Engel type|Engel congenital myasthenic syndrome|congenital myasthenic syndrome caused by mutation in COLQ|CMS5	http://purl.obolibrary.org/obo/MONDO_0011281	Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner.	NCIT:C129304|MESH:C566415|DOID:0110667|http://identifiers.org/omim/603034|UMLS:C1864233
BFO:0000167	has participant at all times	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BFO_0000167		
MONDO:0011280	SCZD6	biolink:Disease	mondo	OMIM:603013|UMLS:C1864275|DOID:0070082		SCZD6|schizophrenia susceptibility locus, chromosome 8P-related|schizophrenia 6|schizophrenia 6; SCZD6	http://purl.obolibrary.org/obo/MONDO_0011280	A schizophrenia that has material basis in an autosomal dominant mutation of SCZD6 on chromosome 8p21.	DOID:0070082|http://identifiers.org/omim/603013|UMLS:C1864275
MONDO:0011283	mitochondrial DNA depletion syndrome 1	biolink:Disease	mondo	DOID:0080119|OMIM:603041		mitochondrial DNA depletion syndrome type 1|myoneurogastrointestinal encephalopathy syndrome|polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction|mitochondrial DNA depletion syndrome 1 (MNGIE type)|MTDPS1|Polip syndrome|mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related|Mngie, tymp-related|mitochondrial DNA depletion syndrome 1 (MNGIE type); MTDPS1	http://purl.obolibrary.org/obo/MONDO_0011283		DOID:0080119|http://identifiers.org/omim/603041
MONDO:0011282	tumor suppressor gene on chromosome 11	biolink:Disease	mondo	OMIM:603040|UMLS:C1864232		tumor suppressor Gene on chromosome type 11|Nonsmall cell lung cancer suppressor|tumor suppressor gene on chromosome 11|Tsg11	http://purl.obolibrary.org/obo/MONDO_0011282		UMLS:C1864232|http://identifiers.org/omim/603040
MONDO:0011285	age related macular degeneration 1	biolink:Disease	mondo	DOID:0110014|OMIM:603075|UMLS:C1864205|MESH:C566411		age related maculopathy 1|age related macular degeneration type 1|ARMD1|macular degeneration, age-related, 1|maculopathy, age-related, 1|macular degeneration, age-related, 1; ARMD1|macular Degeneration, age-related, type 1	http://purl.obolibrary.org/obo/MONDO_0011285	An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1.	UMLS:C1864205|MESH:C566411|DOID:0110014|http://identifiers.org/omim/603075
MONDO:0011284	astigmatism (disease)	biolink:Disease	mondo	OMIM:603047|UMLS:C0004106|CSP:1116-1831|DOID:11782|HP:0000483|SCTID:82649003|ICD9:367.2|COHD:378424|ICD10:H52.2|ICD10:H52.20|ICD9:367.20|MESH:D001251		astigmatism	http://purl.obolibrary.org/obo/MONDO_0011284	Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed)	UMLS:C0004106|DOID:11782|SNOMEDCT:82649003|MESH:D001251|http://identifiers.org/omim/603047
HP:0000360	Tinnitus	biolink:PhenotypicFeature	mondo	UMLS:C0040264|MSH:D014012|SNOMEDCT_US:162349004|SNOMEDCT_US:162352007|SNOMEDCT_US:60862001	hposlim_core	Ringing in the ears|Ringing in ears	http://purl.obolibrary.org/obo/HP_0000360	Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.	
MONDO:0023255	glossopalatine ankylosis micrognathia ear anomalies	biolink:Disease	mondo	GARD:0002495	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023255		
NCBITaxon:119060	Burkholderiaceae	organism taxon	mondo	GC_ID:11|PMID:16403855		Burkholderia group	http://purl.obolibrary.org/obo/NCBITaxon_119060		
HP:0012323	Sleep myoclonus	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:34101000119105|MSH:D009207|UMLS:C0751352			http://purl.obolibrary.org/obo/HP_0012323	Myoclonus that occurs during the initial phases of sleep.	
MONDO:0023258	glycogen storage disease type 1 due to SLC37A4 mutation	biolink:Disease	mondo	MESH:C536831|HGNC:4061|UMLS:C2931345|GARD:0002501	gard_rare	SLC37A4 glycogen storage disease I|glycogen storage disease I caused by mutation in SLC37A4|G6P translocase deficiency|glucose-6-phosphate translocase deficiency	http://purl.obolibrary.org/obo/MONDO_0023258	Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene.	MESH:C536831|UMLS:C2931345
NCBITaxon:119068	Spirillaceae	organism taxon	mondo	GC_ID:11		Spirillum group	http://purl.obolibrary.org/obo/NCBITaxon_119068		
HGNC:20093	ADSS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20093		
MONDO:0023250	global disaccharide intolerance	biolink:Disease	mondo	GARD:0008386	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023250		
MONDO:0011276	orofacial cleft 2	biolink:Disease	mondo	MESH:C566419|OMIM:602966|UMLS:C1864323|DOID:0080396		orofacial cleft 2|OFC2|orofacial cleft 2; OFC2|cleft lip with or without cleft palate, nonsyndromic, 2	http://purl.obolibrary.org/obo/MONDO_0011276		UMLS:C1864323|http://identifiers.org/omim/602966|DOID:0080396|MESH:C566419
MONDO:0011275	acromesomelic dysplasia, Maroteaux type	biolink:Disease	mondo	DOID:0080050|GARD:0000507|SCTID:718559000|ICD10:Q77.8|Orphanet:40|OMIM:602875|MESH:C535661	gard_rare|ordo_malformation_syndrome	acromesomelic dysplasia, Maroteaux type; AMDM|acromesomelic dwarfism Maroteux type|acromesomelic dysplasia Maroteaux type|St. Helena dysplasia|acromesomelic dysplasia, Maroteaux type|AMDM	http://purl.obolibrary.org/obo/MONDO_0011275	A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type.	ORPHA:40|UMLS:C1864356|http://identifiers.org/omim/602875|DOID:0080050|SNOMEDCT:718559000|MESH:C535661
MONDO:0011278	bile duct cysts	biolink:Disease	mondo	SCTID:397868007|OMIM:603003|GARD:0009229|ICD9:576.8		choledochal cysts|choledochocele|bile duct cysts	http://purl.obolibrary.org/obo/MONDO_0011278		SNOMEDCT:397868007|http://identifiers.org/omim/603003
MONDO:0011277	obsolete leukoregulin	biolink:Disease	mondo	OMIM:602994		leukoregulin	http://purl.obolibrary.org/obo/MONDO_0011277		http://identifiers.org/omim/602994
MONDO:0011279	autosomal recessive nonsyndromic deafness 17	biolink:Disease	mondo	UMLS:C1864276|ICD10:H90.3|MESH:C566418|DOID:0110472|OMIM:603010		deafness, autosomal recessive 17; DFNB17|autosomal recessive nonsyndromic deafness type 17|DFNB17|deafness, autosomal recessive 17|autosomal recessive deafness 17	http://purl.obolibrary.org/obo/MONDO_0011279	An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S2453 and D7S525 in the chromosome region 7q31.	DOID:0110472|http://identifiers.org/omim/603010|UMLS:C1864276|MESH:C566418
ENVO:02000140	fluid environmental material	biolink:OntologyClass	mondo			fluid	http://purl.obolibrary.org/obo/ENVO_02000140	A liquid or a gas.	
MONDO:0011270	prostate cancer, hereditary, 8	biolink:Disease	mondo	OMIM:602759|MESH:C566426|UMLS:C1864472		prostate cancer, hereditary, type 8|prostate cancer, hereditary, 8|predisposing for prostate cancer|HPC8	http://purl.obolibrary.org/obo/MONDO_0011270		UMLS:C1864472|http://identifiers.org/omim/602759|MESH:C566426
MONDO:0011272	retinitis pigmentosa 25	biolink:Disease	mondo	ICD10:H35.5|OMIM:602772|DOID:0110384|MESH:C566425|GARD:0010384|UMLS:C1864446	gard_rare	RP25|retinitis pigmentosa 25|retinitis pigmentosa type 25|EYS retinitis pigmentosa|RP 25|retinitis pigmentosa 25; RP25|retinitis pigmentosa caused by mutation in EYS	http://purl.obolibrary.org/obo/MONDO_0011272	Any retinitis pigmentosa in which the cause of the disease is a mutation in the EYS gene.	UMLS:C1864446|http://identifiers.org/omim/602772|MESH:C566425|DOID:0110384
MONDO:0011271	rigid spine muscular dystrophy 1	biolink:Disease	mondo	ICD10:G71.8|UMLS:C0410180|ICD10:G71.2|SCTID:240063002|OMIM:602771|NCIT:C126691|DOID:0110633		severe classic form minicore myopathy|severe classic form multiminicore disease|RSMD1|desmin-related myopathy with Mallory bodies|congenital merosin-positive muscular dystrophy with early spine rigidity|myopathy, Sepn1-related|classic MmD|MDRS1|Eichsfeld type congenital muscular dystrophy|SEPN1-related myopathy|muscular dystrophy, congenital, merosin-positive, with early spine rigidity|desmin-related myopathy with Mallory body-like inclusions|classic multiminicore myopathy|rigid spine muscular dystrophy 1; RSMD1|rigid spine syndrome|muscular dystrophy, congenital, Eichsfeld type|RSS|rigid spine syndrome caused by mutation in SELENON|classic multiminicore disease|SELENON rigid spine syndrome|multicore myopathy, Severe classic form|early-onset desmin-related myopathy|rigid spine muscular dystrophy 1|rigid spine muscular dystrophy type 1|minicore myopathy, Severe classic form|multiminicore disease, Severe classic form|desmin-related myopathy with Mallory bodies|severe classic form multicore myopathy	http://purl.obolibrary.org/obo/MONDO_0011271	An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage.	http://identifiers.org/omim/602771|UMLS:C0410180|DOID:0110633|SNOMEDCT:240063002|NCIT:C126691
MONDO:0011274	Muenke syndrome	biolink:Disease	mondo	MESH:C537369|ICD10:Q87.0|DOID:0060703|OMIM:602849|GARD:0007097|SCTID:440350001|Orphanet:53271|NCIT:C84904|UMLS:C1864436	ordo_malformation_syndrome|gard_rare	FGFR3-related craniosynostosis|syndrome of coronal craniosynostosis|MNKES|Muenke syndrome|Muenke nonsyndromic coronal craniosynostosis|Muenke syndrome; MNKES	http://purl.obolibrary.org/obo/MONDO_0011274	Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.	ORPHA:53271|DOID:0060703|UMLS:C1864436|NCIT:C84904|http://identifiers.org/omim/602849|SNOMEDCT:440350001|MESH:C537369
MONDO:0011273	H syndrome	biolink:Disease	mondo	GARD:0000581|MESH:C538322|ICD10:D76.3|MESH:C535391|SCTID:711159002|GARD:0010239|Orphanet:168569|OMIM:602782|UMLS:C1864445|UMLS:C2930890	ordo_malformation_syndrome|gard_rare	sinus histiocytosis and massive lymphadenopathy|H syndrome|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|histiocytosis and lymphadenopathy with or without cutaneous, Cardiac, and/or endocrine features, Joint contractures, and/or deafness|Rosai-Dorfman disease, familial|Asrar Facharzt Haque syndrome|pigmented hypertrichosis with insulin-dependent diabetes mellitus|SLC29A3 spectrum disorder|Faisalabad histiocytosis|HJCD|histiocytosis-lymphadenopathy plus syndrome|histiocytosis with Joint contractures and sensorineural deafness	http://purl.obolibrary.org/obo/MONDO_0011273	H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).	UMLS:C1864445|ORPHA:168569|UMLS:C2930890|http://identifiers.org/omim/602782|MESH:C538322|SNOMEDCT:711159002|MESH:C535391
MONDO:0023243	glass-chapman-hockley syndrome	biolink:Disease	mondo	SCTID:720814001|Orphanet:1535|UMLS:C4303810|GARD:0002479	n_of_one|gard_rare	craniosynostosis with facial dysmorphism and brachydactyly syndrome|craniosynostosis-dysmorphism-brachydactyly syndrome|glass chapman hockley syndrome|craniosynostosis - dysmorphism - brachydactyly|craniosynostosis brachydactyly	http://purl.obolibrary.org/obo/MONDO_0023243	The Glass-Chapman-Hockley syndrome is a very rare disease. To date, the syndrome has only been reported in one family with five members affected in three generations. The first patients were two brothers that had an abnormally-shaped head due to coronal craniosynostosis. Their mother, maternal aunt, and maternal grandmother were also found to have the syndrome. The signs and symptoms varied from person to person; however, the signs and symptoms included coronal craniosynostosis, small middle part of the face (midfacial hypoplasia), and short fingers (brachydactyly).The inheritance is thought to be autosomal dominant. No genes have been identified for this syndrome. Treatment included surgery to correct the craniosynostosis. No issues with development and normal intelligence were reported.	SNOMEDCT:720814001|UMLS:C4303810|ORPHA:1535
MONDO:0023246	linear porokeratosis	biolink:Disease	mondo	SCTID:238631008|UMLS:C0302319	gard_rare	Porokeratosis, Linear|Congenital facial linear porokeratosis (type)|Zosteriform porokeratosis|Linear Porokeratosis|Linear porokeratosis	http://purl.obolibrary.org/obo/MONDO_0023246	Linear porokeratosis is a rare skin condition characterized by streaks of reddish-brown patches surrounded by a ridge-like border.The patches usually develop in infants or young children, but they sometimes develop in adults.	SNOMEDCT:238631008|UMLS:C0302319
MONDO:0023249	polyarticular juvenile rheumatoid arthritis	biolink:Disease	mondo	UMLS:C0311221|SCTID:445479007|GARD:0010967	gard_rare	Polyarticular juvenile rheumatoid arthritis|Juvenile polyarthritis rheumatoid factor positive|Juvenile polyarthritis rheumatoid factor negative	http://purl.obolibrary.org/obo/MONDO_0023249		SNOMEDCT:445479007|UMLS:C0311221
MONDO:0023240	gigantism advanced bone age hoarse cry	biolink:Disease	mondo	GARD:0002471	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023240		
MONDO:0011265	STHAG2	biolink:Disease	mondo	OMIM:602639|UMLS:C1865092|MESH:C566513		hypodontia/oligodontia 2|STHAG2|tooth agenesis, selective, 2|tooth agenesis, selective, 2; STHAG2	http://purl.obolibrary.org/obo/MONDO_0011265		UMLS:C1865092|http://identifiers.org/omim/602639|MESH:C566513
MONDO:0011264	torsion dystonia 6	biolink:Disease	mondo	MESH:C538003|SCTID:702448007|DOID:0090039|Orphanet:98806|UMLS:C1414216|OMIM:602629|GARD:0009630|ICD10:G24.1	ordo_disease	torsion dystonia type 6|generalized cervical and upper-limb-onset dystonia|adolescent-onset dystonia of mixed type|THAP1 generalized isolated dystonia|primary dystonia, DYT6 type|dystonia 6|DYT6|DYT-THAP1|torsion dystonia adult onset mixed type|generalized isolated dystonia caused by mutation in THAP1|dystonia 6, torsion; DYT6|idiopathic torsion dystonia of mixed type|dystonia 6, torsion|torsion dystonia, adult-onset, mixed type	http://purl.obolibrary.org/obo/MONDO_0011264	Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases.	UMLS:C1414216|SNOMEDCT:702448007|http://identifiers.org/omim/602629|MESH:C538003|ORPHA:98806|DOID:0090039
MONDO:0011267	intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration	biolink:Disease	mondo	OMIM:602685|MESH:C566429|UMLS:C1864549		mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration|intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration|Mrst	http://purl.obolibrary.org/obo/MONDO_0011267		UMLS:C1864549|http://identifiers.org/omim/602685|MESH:C566429
MONDO:0011266	myotonic dystrophy type 2	biolink:Disease	mondo	OMIM:602668|ICD10:G71.19|ICD10:G71.1|Orphanet:606|DOID:0050759|ICD9:359.2|NCIT:C84680|GARD:0009728	ordo_disease|gard_rare	CNBP myotonic dystrophy|myotonic myopathy, proximal|dystrophia myotonica type 2|myotonic dystrophy 2|myotonic dystrophy caused by mutation in CNBP|PROMM|proximal myotonic dystrophy|proximal myotonic myopathy|myotonic dystrophy type 2|DM2|dystrophia myotonica 2|ricker disease|myotonic dystrophy 2; DM2|ricker syndrome	http://purl.obolibrary.org/obo/MONDO_0011266	Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders.	DOID:0050759|NCIT:C84680|http://identifiers.org/omim/602668|MESH:D020967|UMLS:C0752354|ORPHA:606
MONDO:0011269	psoriasis 2	biolink:Disease	mondo	UMLS:C1864497|OMIM:602723|DOID:0080475		CARD14 psoriasis|PSORS2|psoriasis caused by mutation in CARD14|psoriasis type 2|psoriasis 2|psoriasis 2; PSORS2	http://purl.obolibrary.org/obo/MONDO_0011269	Any psoriasis in which the cause of the disease is a mutation in the CARD14 gene.	UMLS:C1864497|http://identifiers.org/omim/602723|DOID:0080475
MONDO:0011268	renal tubular acidosis, distal, 3, with or without sensorineural hearing loss	biolink:Disease	mondo	GARD:0004669|OMIM:602722		RTA, distal, autosomal recessive|classical distal renal tubular acidosis|renal tubular acidosis, autosomal recessive, with preserved hearing|classical distal RTA|renal tubular acidosis, autosomal recessive with preserved hearing|type 1 renal tubular acidosis|RTADR|renal tubular acidosis, distal, autosomal recessive; RTADR|type 1 RTA|renal tubular acidosis, distal, autosomal recessive|renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss|renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss, included	http://purl.obolibrary.org/obo/MONDO_0011268		http://identifiers.org/omim/602722
HP:0000347	Micrognathia	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:32958008|Fyler:4163|UMLS:C1857130|MSH:D008844|UMLS:C0240295|UMLS:C0025990	hposlim_core	Retrusion of lower jaw|Mandibular retrusion|Lower jaw hypoplasia|Robin mandible|Hypotrophic mandible|Decreased size of mandible|Micromandible|Small lower jaw|Small jaw|Little lower jaw|Decreased projection of lower jaw|Mandibular deficiency|Mandibular retrognathia|Decreased size of lower jaw|Decreased projection of mandible|Deficiency of lower jaw|Hypotrophic lower jaw|Hypoplastic mandible|Hypoplastic mandible condyle|Hypoplasia of mandible|Mandibular hypoplasia|Hypoplasia of lower jaw|Lower jaw retrusion|Lower jaw deficiency|Underdevelopment of mandible|Severe hypoplasia of mandible|Mandibular micrognathia|Little mandible|Micrognathia of lower jaw|Underdevelopment of lower jaw|Small mandible	http://purl.obolibrary.org/obo/HP_0000347	Developmental hypoplasia of the mandible.	
MONDO:0011261	spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation	biolink:Disease	mondo	SCTID:718766002|OMIM:602611|Orphanet:163649|MESH:C566515|ICD10:Q77.7	ordo_disease|n_of_one	spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataract-intellectual disability syndrome|spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation|spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0011261	A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit.	SNOMEDCT:718766002|http://identifiers.org/omim/602611|MESH:C566515|ORPHA:163649
MONDO:0011260	pancreatic lymphoma, familial	biolink:Disease	mondo	MESH:C566516|UMLS:C1865139|OMIM:602596	predisposition	hereditary pancreas lymphoma|pancreatic lymphoma, familial	http://purl.obolibrary.org/obo/MONDO_0011260	An instance of pancreas lymphoma that is caused by an inherited modification of the individual's genome.	UMLS:C1865139|http://identifiers.org/omim/602596|MESH:C566516
MONDO:0011263	skeletal dysplasia and progressive central nervous system degeneration, lethal	biolink:Disease	mondo	UMLS:C1865117|MESH:C566514|OMIM:602613		skeletal dysplasia and progressive central nervous system degeneration, lethal	http://purl.obolibrary.org/obo/MONDO_0011263		UMLS:C1865117|http://identifiers.org/omim/602613|MESH:C566514
MONDO:0011262	camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye	biolink:Disease	mondo	SCTID:715986009|OMIM:602612|Orphanet:1323|GARD:0000216|UMLS:C1865133|MESH:C535876|ICD10:Q87.0	gard_rare|ordo_malformation_syndrome	camptodactyly, joint contractures, facial skeletal defects|Rozin hertz Goodman syndrome|camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye	http://purl.obolibrary.org/obo/MONDO_0011262	Camptodactyly-joint contractures-facial skeletal defects syndrome is characterised by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline).	MESH:C535876|UMLS:C1865133|SNOMEDCT:715986009|http://identifiers.org/omim/602612|ORPHA:1323
HGNC:19087	EBF3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19087		
HGNC:19082	NALCN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19082		
NCBITaxon:27973	Encephalitozoon hellem	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_27973		
HP:0012384	Rhinitis	biolink:PhenotypicFeature	mondo	UMLS:C2718128|SNOMEDCT_US:70076002|MSH:D012220|UMLS:C0035455	hposlim_core	Nasal inflammation	http://purl.obolibrary.org/obo/HP_0012384	Inflammation of the nasal mucosa with nasal congestion.	
GO:0015696	ammonium transport	biolink:OntologyClass	mondo			ammonia transport	http://purl.obolibrary.org/obo/GO_0015696	The directed movement of ammonium into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Ammonium is the cation NH4+ which is formed from N2 by root-nodule bacteria in leguminous plants and is an excretory product in ammonotelic animals.	
GO:0015698	inorganic anion transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0015698	The directed movement of inorganic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage.	
BFO:0000132	part of occurrent	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BFO_0000132		
GO:0015693	magnesium ion transport	biolink:OntologyClass	mondo			magnesium transport	http://purl.obolibrary.org/obo/GO_0015693	The directed movement of magnesium (Mg) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
GO:0015695	organic cation transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0015695	The directed movement of organic cations into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organic cations are atoms or small molecules with a positive charge which contain carbon in covalent linkage.	
HP:0012374	obsolete Abnormal globe morphology	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0012374		
GO:0001067	regulatory region nucleic acid binding	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0001067	Interacting selectively and non-covalently with a nucleic acid region that regulates a nucleic acid-based process. Such processes include transcription, DNA replication, and DNA repair.	
HP:0012372	Abnormal eye morphology	biolink:PhenotypicFeature	mondo	UMLS:C4022925|Fyler:4863		Abnormally shaped eye|Abnormal eye structure|Abnormality of the globe	http://purl.obolibrary.org/obo/HP_0012372	A structural anomaly of the globe of the eye, or bulbus oculi.	
HP:0012373	Abnormal eye physiology	biolink:PhenotypicFeature	mondo	UMLS:C4022924		Abnormal eye physiology	http://purl.obolibrary.org/obo/HP_0012373	A functional anomaly of the eye.	
HGNC:20087	TTC8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20087		
ENVO:02000109	dust from plant parts	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_02000109		
ENVO:02000108	cotton dust	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_02000108		
HP:0012369	Abnormality of malar bones	biolink:PhenotypicFeature	mondo	UMLS:C4022926		Anomaly of the malar bones|Malar anomaly|Deformity of the malar bones|Malformation of the malar bones	http://purl.obolibrary.org/obo/HP_0012369	An abnormality of the malar surface of the zygomatic bone and including the frontal process of maxilla.	
ENVO:02000103	metallic dust	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_02000103	Dust which is composed primarily of some metallic material.	
MONDO:0023290	grix Blankenship Peterson syndrome	biolink:Disease	mondo	GARD:0002567	gard_rare	craniofacial and osseous defects intellectual disability|craniofacial and osseous defects mental retardation	http://purl.obolibrary.org/obo/MONDO_0023290		
ENVO:02000101	fibrous dust	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_02000101	Dust which is composed of fibrous material.	
ENVO:02000100	mineral dust	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_02000100	Dust which is derived from mineral material.	
ENVO:02000106	asbestos dust	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_02000106		
ENVO:02000105	clay dust	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_02000105	Dust which is derived from clay material.	
GO:0003690	double-stranded DNA binding	biolink:OntologyClass	mondo			dsDNA binding	http://purl.obolibrary.org/obo/GO_0003690	Interacting selectively and non-covalently with double-stranded DNA.	
MONDO:0023297	guttate psoriasis	biolink:Disease	mondo	ICD9:696.1|GARD:0010569|SCTID:37042000|ICD10:L40.4|UMLS:C0343052	gard_rare	psoriasis guttate|guttate psoriasis|psoriasis guttata	http://purl.obolibrary.org/obo/MONDO_0023297	Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body.It is a relatively uncommon form of psoriasis. The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral infections). Other triggers include injury to the skin, including cuts, burns, and insect bites, certain malarial and heart medications, stress, sunburn, and excessive alcohol consumption. Treatment depends on the severity of the symptoms, ranging from at-home over the counter remedies to medicines that suppress the body's immunesystem to sunlight and phototherapy.	UMLS:C0343052|SNOMEDCT:37042000
GO:0015671	oxygen transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0015671	The directed movement of oxygen (O2) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
GO:0015672		biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0015672		
HP:0000370	Abnormality of the middle ear	biolink:PhenotypicFeature	mondo	UMLS:C1861141	hposlim_core	Middle ear abnormality|Middle ear abnormalities	http://purl.obolibrary.org/obo/HP_0000370	An abnormality of the middle ear.	
HGNC:19077	NCR3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19077		
MONDO:0023288	green sandford davison syndrome	biolink:Disease	mondo	MESH:C538221|UMLS:C2931777|GARD:0002447	gard_rare	renal and anogenital malformations with syndactyly|anal anomalies, renal tract abnormalities, genital malformations, and syndactyly	http://purl.obolibrary.org/obo/MONDO_0023288		UMLS:C2931777|MESH:C538221
HGNC:19073	THOC2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19073		
MONDO:0023282	granulomatous hypophysitis	biolink:Disease	mondo	GARD:0006547	gard_rare	idiopathic granulomatous hypophysitis	http://purl.obolibrary.org/obo/MONDO_0023282	Granulomatous hypophysitis is rare pathology that mimics pituitary adenoma.	
MONDO:0023283	ovarian granulosa cell tumor	biolink:Disease	mondo	MESH:C537296|UMLS:C1370419|EFO:1000421|SCTID:254863004|NCIT:C6261		ovarian granulosa cell tumor|granulosa cell tumor of ovary|granulosa theca cell tumor of the ovary|granulosa cell neoplasm of ovary|ovary granulosa cell tumor|granulosa theca cell tumor|GCT of the ovary|ovarian granulosa cell neoplasm|adult granulosa cell tumor of the ovary|granulosa cell neoplasm of the ovary|granulosa cell tumor of the ovary	http://purl.obolibrary.org/obo/MONDO_0023283	A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis.	MESH:C537296|SNOMEDCT:254863004|NCIT:C6261|UMLS:C1370419
MONDO:0023286	graphite pneumoconiosis	biolink:Disease	mondo	ICD9:503|SCTID:17385007|UMLS:C0264439|GARD:0008359	gard_rare	carbon pneumoconiosis|graphitosis|graphite fibrosis of lung|graphite fibrosis|graphite lung disease|graphite pneumoconiosis	http://purl.obolibrary.org/obo/MONDO_0023286		SNOMEDCT:17385007|UMLS:C0264439
BFO:0000144	process profile	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BFO_0000144	b is a process_profile =Def. there is some process c such that b process_profile_of c (axiom label in BFO2 Reference: [093-002])	
BFO:0000141	immaterial entity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BFO_0000141		
MONDO:0001763	ethmoid sinus cancer	biolink:Disease	mondo	SCTID:363426009|UMLS:C0153477|ICD10:C31.1|DOID:1363|ICD9:160.3|NCIT:C3541		malignant neoplasm of ethmoidal sinus|malignant ethmoid sinus tumor|malignant neoplasm of the ethmoidal sinus|malignant tumor of the ethmoid sinus|malignant tumor of ethmoid sinus|malignant ethmoidal sinus tumor|cancer of ethmoid sinus|malignant tumor of the ethmoidal sinus|malignant ethmoidal sinus neoplasm|ethmoid sinus cancer|malignant neoplasm of ethmoid sinus|malignant tumor of ethmoidal sinus|malignant neoplasm of the ethmoid sinus|malignant ethmoid sinus neoplasm	http://purl.obolibrary.org/obo/MONDO_0001763	A malignant neoplasm involving the ethmoid sinus.	DOID:1363|UMLS:C0153477|SNOMEDCT:363426009|NCIT:C3541
HGNC:19165	TBC1D4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19165		
MONDO:0001762	dentine erosion	biolink:Disease	mondo	DOID:13629|ICD9:521.32		tooth erosion, non-bacterial of dentine|dentine tooth erosion, non-bacterial	http://purl.obolibrary.org/obo/MONDO_0001762	A tooth erosion, non-bacterial that involves the dentine.	DOID:13629
MONDO:0001761	favism	biolink:Disease	mondo	SCTID:191172001|NCIT:C34607|ICD10:D55.0|DOID:13628|MESH:D005236|UMLS:C0015702			http://purl.obolibrary.org/obo/MONDO_0001761	A condition associated with glucose-6-phosphate dehydrogenase deficiency, which is characterized by hemolysis.	SNOMEDCT:191172001|NCIT:C34607|DOID:13628|MESH:D005236|UMLS:C0015702
MONDO:0001760	photokeratitis	biolink:Disease	mondo	ICD10:H16.13|ICD9:370.24|UMLS:C0155078|NCIT:C118750|COHD:375258|SCTID:1714005|DOID:13626		ultraviolet keratitis	http://purl.obolibrary.org/obo/MONDO_0001760	Injury to the cornea secondary to ultraviolet light.	NCIT:C118750|UMLS:C0155078|DOID:13626|SNOMEDCT:1714005
MONDO:0001767	stenosis of lacrimal punctum	biolink:Disease	mondo	COHD:440404|UMLS:C0155244|ICD9:375.52|ICD10:H04.56|DOID:13653|SCTID:74783009			http://purl.obolibrary.org/obo/MONDO_0001767		SNOMEDCT:74783009|UMLS:C0155244|DOID:13653
NCBITaxon:39759	Deltavirus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_39759		
MONDO:0001766	eversion of lacrimal punctum	biolink:Disease	mondo	COHD:374952|UMLS:C0155243|ICD9:375.51|SCTID:28244003|ICD10:H04.52|DOID:13651			http://purl.obolibrary.org/obo/MONDO_0001766		UMLS:C0155243|DOID:13651|SNOMEDCT:28244003
MONDO:0001765	polyneuropathy in collagen vascular disease	biolink:Disease	mondo	UMLS:C0154759|SCTID:193177003|DOID:13649|ICD9:357.1|ICD9:357.4|COHD:375260			http://purl.obolibrary.org/obo/MONDO_0001765		DOID:13649|SNOMEDCT:193177003|UMLS:C0154759
MONDO:0001764	ethmoidal sinus neoplasm	biolink:Disease	mondo	SCTID:126677000|DOID:1364|NCIT:C4416|UMLS:C0345668		ethmoid sinus neoplasm (disease)|tumor of the ethmoidal sinus|ethmoidal sinus neoplasm|tumor of ethmoid sinus|neoplasm of the ethmoid sinus|tumor of ethmoidal sinus|ethmoid sinus neoplasm|neoplasm of the ethmoidal sinus|neoplasm of ethmoidal sinus|ethmoidal sinus tumor|tumor of the ethmoid sinus|neoplasm of ethmoid sinus|ethmoid sinus tumor	http://purl.obolibrary.org/obo/MONDO_0001764	A benign or malignant neoplasm that affects the ethmoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.	SNOMEDCT:126677000|UMLS:C0345668|DOID:1364|NCIT:C4416
MONDO:0013749	ventricular septal defect 3	biolink:Disease	mondo	UMLS:C3280785|OMIM:614432		NKX2-5 ventricular septal defect (disease)|ventricular septal defect (disease) caused by mutation in NKX2-5|ventricular septal defect type 3|VSD3|ventricular septal defect 3; VSD3|ventricular septal defect 3	http://purl.obolibrary.org/obo/MONDO_0013749	Any ventricular septal defect in which the cause of the disease is a mutation in the NKX2-5 gene.	UMLS:C3280785|http://identifiers.org/omim/614432
MONDO:0013747	atrioventricular septal defect 4	biolink:Disease	mondo	UMLS:C3280781|OMIM:614430		atrioventricular septal defect caused by mutation in GATA4|AVSD4|atrioventricular septal defect 4|GATA4 atrioventricular septal defect|atrioventricular septal defect type 4|atrioventricular septal defect 4; AVSD4	http://purl.obolibrary.org/obo/MONDO_0013747	Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene.	http://identifiers.org/omim/614430|UMLS:C3280781
MONDO:0013748	ventricular septal defect 2	biolink:Disease	mondo	OMIM:614431		ventricular septal defect type 2|ventricular septal defect 2; VSD2|VSD2|ventricular septal defect 2|CITED2 ventricular septal defect (disease)|ventricular septal defect (disease) caused by mutation in CITED2	http://purl.obolibrary.org/obo/MONDO_0013748	Any ventricular septal defect in which the cause of the disease is a mutation in the CITED2 gene.	http://identifiers.org/omim/614431
HP:0000518	Cataract	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:128306009|SNOMEDCT_US:193570009|UMLS:C0086543|MSH:D002386|SNOMEDCT_US:247053007|Fyler:4865|UMLS:C1510497	hposlim_core	Cloudy lens|Clouding of the lens of the eye|Lens opacity|Cataracts|Lens opacities	http://purl.obolibrary.org/obo/HP_0000518	A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.	
HP:0000517	Abnormality of the lens	biolink:PhenotypicFeature	mondo	UMLS:C0023308|UMLS:C0549651|SNOMEDCT_US:10810001|MSH:D007905		Abnormality of the lens|Lens issue|Lens disease	http://purl.obolibrary.org/obo/HP_0000517	An abnormality of the lens.	
HGNC:20151	SLC17A8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20151		
HGNC:20153	CHD8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20153		
MONDO:0013752	hypoplastic left heart syndrome 2	biolink:Disease	mondo	OMIM:614435|MedDRA:10021076|UMLS:C3280795|ICD10:Q23.4		hypoplastic left heart syndrome caused by mutation in NKX2-5|hypoplastic left heart syndrome 2; HLHS2|NKX2-5 hypoplastic left heart syndrome|hypoplastic left heart syndrome 2|HLHS2|hypoplastic left heart syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0013752	Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the NKX2-5 gene.	UMLS:C3280795|http://identifiers.org/omim/614435
MONDO:0013753	Charcot-Marie-Tooth disease axonal type 2P	biolink:Disease	mondo	OMIM:614436|GARD:0009195|UMLS:C1837805|ICD10:G60.0|SCTID:719511005|GARD:0012435|DOID:0110169|OMIM:608591|UMLS:C3280797|Orphanet:300319|UMLS:C4304674|Orphanet:99941	ordo_disease|gard_rare	Charcot Marie Tooth disease type 2G|CMT 2G|autosomal dominant Charcot-Marie-Tooth disease type 2G|Charcot-Marie-Toothe disease, axonal, type 2P|Charcot-Marie-Tooth neuropathy, type 2G|Charcot-Marie-Tooth neuropathy, type 2P|Charcot-Marie-Tooth disease, type 4A, axonal form|Charcot-Marie-Tooth disease type 2P|Charcot-Marie-Tooth disease, axonal, type 2P|Charcot-Marie-Tooth disease caused by mutation in LRSAM1|Charcot-Marie-Tooth disease, axonal, type 2P; CMT2P|LRSAM1 Charcot-Marie-Tooth disease|CMT2P|Charcot-Marie-Tooth disease type 2G|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive|Charcot-Marie-Tooth neuropathy type 2P|Charcot-Marie-Tooth disease, axonal, type 2G, formerly|CMT2G|Charcot-Marie-Tooth disease, axonal, type 2G|Charcot-Marie-Tooth disease, axonal, type 2G; CMT2G	http://purl.obolibrary.org/obo/MONDO_0013753	Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the LRSAM1 gene.	http://identifiers.org/omim/608591|ORPHA:99941|UMLS:C4304674|DOID:0110169|ORPHA:300319|UMLS:C1837805|UMLS:C3280797|http://identifiers.org/omim/614436|SNOMEDCT:719511005
MONDO:0013750	atrial heart septal defect 8	biolink:Disease	mondo	OMIM:614433|DOID:0110113|ICD10:Q21.1		atrial septal defect 8; ASD8|CITED2 atrial heart septal defect|atrial heart septal defect caused by mutation in CITED2|atrial septal defect type 8|atrial heart septal defect type 8|ASD8|atrial septal defect 8	http://purl.obolibrary.org/obo/MONDO_0013750	Any atrial heart septal defect in which the cause of the disease is a mutation in the CITED2 gene.	DOID:0110113|http://identifiers.org/omim/614433
MONDO:0013751	cutis laxa, autosomal dominant 2	biolink:Disease	mondo	OMIM:614434|UMLS:C3280794		FBLN5 autosomal dominant cutis laxa|cutis laxa, autosomal dominant 2; ADCL2|autosomal dominant cutis laxa caused by mutation in FBLN5|autosomal dominant cutis laxa 2|ADCL2|cutis laxa, autosomal dominant type 2|cutis laxa, autosomal dominant 2	http://purl.obolibrary.org/obo/MONDO_0013751	Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the FBLN5 gene.	UMLS:C3280794|http://identifiers.org/omim/614434
MONDO:0013756	hypertrophic osteoarthropathy, primary, autosomal recessive, 2	biolink:Disease	mondo	UMLS:C3280800|OMIM:614441		hypertrophic osteoarthropathy, primary, autosomal recessive, type 2|PDP, autosomal recessive|PHOAR2|SLCO2A1 primary hypertrophic osteoarthropathy|hypertrophic osteoarthropathy, primary, autosomal recessive, 2|hypertrophic osteoarthropathy, primary, autosomal recessive, 2; PHOAR2|primary hypertrophic osteoarthropathy caused by mutation in SLCO2A1|pachydermoperiostosis, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0013756	Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the SLCO2A1 gene.	UMLS:C3280800|http://identifiers.org/omim/614441
MONDO:0013757	congenital nongoitrous hypothryoidism 6	biolink:Disease	mondo	DOID:0070128|ICD10:E03.1|OMIM:614450|UMLS:C3280817		hypothyroidism, congenital, nongoitrous, type 6|hypothyroidism, congenital, nongoitrous caused by mutation in THRA|hypothyroidism, congenital, nongoitrous, 6|congenital nongoitrous hypothyroidism 6|CHNG6|hypothyroidism, congenital, nongoitrous, 6; CHNG6|THRA hypothyroidism, congenital, nongoitrous	http://purl.obolibrary.org/obo/MONDO_0013757	Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene.	UMLS:C3280817|DOID:0070128|http://identifiers.org/omim/614450
MONDO:0013754	cutis laxa, autosomal recessive, type 1B	biolink:Disease	mondo	ICD10:Q82.8|DOID:0070133|UMLS:C3280798|OMIM:614437		ARCL1B|cutis laxa, autosomal recessive, type IB|autosomal recessive cutis laxa type IB|cutis laxa, autosomal recessive, type IB; ARCL1B	http://purl.obolibrary.org/obo/MONDO_0013754	An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13.	UMLS:C3280798|DOID:0070133|http://identifiers.org/omim/614437
MONDO:0013755	PYCR1-related de Barsy syndrome	biolink:Disease	mondo	ICD10:Q87.8|DOID:0070138|Orphanet:293633|OMIM:614438|ICD10:Q82.8|UMLS:C3280799	ordo_etiological_subtype	cutis laxa, autosomal recessive, type IIIB; ARCL3B|pyrroline-5-carboxylate reductase 1 deficiency|cutis laxa, autosomal recessive, type IIIB|PYCR1 de Barsy syndrome|cutis laxa, autosomal recessive, type 3B|de Barsy syndrome caused by mutation in PYCR1|ARCL3B|autosomal recessive cutis laxa type IIIB|De Barsy syndrome B|PYCR1 deficiency	http://purl.obolibrary.org/obo/MONDO_0013755	Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene.	ORPHA:293633|UMLS:C3280799|DOID:0070138|http://identifiers.org/omim/614438
HP:0012503	Abnormality of the pituitary gland	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:399244003|UMLS:C0032002|MSH:D010900		disorder of pituitary gland	http://purl.obolibrary.org/obo/HP_0012503	An anomaly of the pituitary gland.	
MONDO:0001759	obsolete patent foramen ovale	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001759		
MONDO:0001758	paranasal sinus sarcoma	biolink:Disease	mondo	UMLS:C1335342|NCIT:C6849|DOID:1362		sarcoma of accessory sinus|sarcoma of the paranasal sinus|accessory sinus sarcoma|sarcoma of the accessory sinus|paranasal sinus sarcoma|sarcoma of paranasal sinus	http://purl.obolibrary.org/obo/MONDO_0001758	A malignant soft tissue neoplasm that arises from the paranasal sinus.	UMLS:C1335342|NCIT:C6849|DOID:1362
HGNC:5261	HSPD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5261		
MONDO:0001757	frontal sinus neoplasm	biolink:Disease	mondo	UMLS:C0345672|SCTID:126678005|NCIT:C4419|DOID:1361		frontal sinus neoplasm (disease)|neoplasm of frontal sinus|frontal sinus tumor|tumor of the frontal sinus|tumor of frontal sinus|neoplasm of the frontal sinus	http://purl.obolibrary.org/obo/MONDO_0001757	A benign or malignant neoplasm that affects the frontal sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.	NCIT:C4419|SNOMEDCT:126678005|UMLS:C0345672|DOID:1361
MONDO:0001774	posterior scleritis	biolink:Disease	mondo	COHD:440732|ICD9:379.07|ICD10:H15.03|DOID:13676|SCTID:267660007|UMLS:C0155357			http://purl.obolibrary.org/obo/MONDO_0001774		SNOMEDCT:267660007|DOID:13676|UMLS:C0155357
NCBITaxon:39744	Rubulavirus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_39744		
MONDO:0001773	post-vaccinal encephalitis	biolink:Disease	mondo	SCTID:31367003|UMLS:C0751101|ICD9:323.51|ICD10:G04.02|DOID:13664		encephalitis following immunization procedures|postvaccinal encephalomyelitis	http://purl.obolibrary.org/obo/MONDO_0001773	An acute or subacute inflammatory process of the central nervous system characterized histologically by multiple foci of perivascular demyelination. Symptom onset usually occurs several days after an acute viral infection or immunization, but it may coincide with the onset of infection or rarely no antecedent event can be identified. Clinical manifestations include confusion, somnolence, fever, nuchal rigidity, and involuntary movements. The illness may progress to coma and eventually be fatal. (Adams et al., Principles of Neurology, 6th ed, p921)	SNOMEDCT:31367003|UMLS:C0751101|DOID:13664
MONDO:0001772	ulcer of anus and rectum	biolink:Disease	mondo	DOID:13662|ICD9:569.41|ICD10:K62.6		anal and rectal ulcer	http://purl.obolibrary.org/obo/MONDO_0001772		DOID:13662
MONDO:0001771	infective urethral stricture	biolink:Disease	mondo	ICD9:136.9|SCTID:80375002|DOID:13658|ICD9:598.01|ICD9:598.00			http://purl.obolibrary.org/obo/MONDO_0001771		DOID:13658|SNOMEDCT:80375002
MONDO:0001778	dermoid cyst of skin	biolink:Disease	mondo	DOID:13691|SCTID:276729007|NCIT:C4632|UMLS:C0349502		skin dermoid cyst|skin dermoid|dermoid cyst of skin (finding)|zone of skin dermoid cyst|cystic skin teratoma|subcutaneous dermoid cyst|cutaneous dermoid cyst|dermoid cyst of skin|dermoid cyst of the skin	http://purl.obolibrary.org/obo/MONDO_0001778	A benign hamartomatous tumor that possesses various epidermal derivatives and is due to sequestration of skin along the lines of embryonic closure.	DOID:13691|UMLS:C0349502|SNOMEDCT:276729007|NCIT:C4632
MONDO:0001777	acute gonococcal cystitis	biolink:Disease	mondo	UMLS:C0153191|DOID:13690|SCTID:24868007|ICD9:098.11		gonococcal cystitis|gonococcal cystitis (acute)|gonococcal cystitis, acute|acute gonorrhea of bladder	http://purl.obolibrary.org/obo/MONDO_0001777	Acute form of gonococcal cystitis.	SNOMEDCT:24868007|DOID:13690|UMLS:C0153191
MONDO:0001776	prostate calculus	biolink:Disease	mondo	SCTID:85324003|COHD:193818|DOID:13689|ICD10:N42.0|UMLS:C0149525|ICD9:602.0		prostatic lithiasis|Stone of prostate|lower urinary tract calculus of prostate gland|calculus of prostate|prostatic stone|prostate gland lower urinary tract calculus	http://purl.obolibrary.org/obo/MONDO_0001776	A concretion in the prostate.	SNOMEDCT:85324003|DOID:13689|NCIT:C26936|UMLS:C0149525
MONDO:0001775	chronic duodenal ileus	biolink:Disease	mondo	ICD10:K31.5|COHD:441897|UMLS:C0156087|ICD9:537.2|DOID:13687|SCTID:52232007			http://purl.obolibrary.org/obo/MONDO_0001775		SNOMEDCT:52232007|UMLS:C0156087|DOID:13687
HP:0000525	Abnormality iris morphology	biolink:PhenotypicFeature	mondo	UMLS:C4025845	hposlim_core	Abnormality of the iris	http://purl.obolibrary.org/obo/HP_0000525	An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil.	
MONDO:0013738	autosomal recessive nonsyndromic deafness 96	biolink:Disease	mondo	OMIM:614414|DOID:0110538|ICD10:H90.3		autosomal recessive nonsyndromic deafness type 96|deafness, autosomal recessive 96|deafness, autosomal recessive 96; DFNB96|autosomal recessive deafness 96|DFNB96	http://purl.obolibrary.org/obo/MONDO_0013738	An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1p36.31-p36.13.	http://identifiers.org/omim/614414|DOID:0110538
MONDO:0013739	chilblain lupus 2	biolink:Disease	mondo	UMLS:C3280721|OMIM:614415		chilblain lupus 2; CHBL2|chilblain lupus caused by mutation in SAMHD1|Chilblain lupus type 2|chilblain lupus 2|CHBL2|SAMHD1 chilblain lupus	http://purl.obolibrary.org/obo/MONDO_0013739	Any chilblain lupus in which the cause of the disease is a mutation in the SAMHD1 gene.	UMLS:C3280721|http://identifiers.org/omim/614415
MONDO:0013736	myopathy, centronuclear, 3	biolink:Disease	mondo	UMLS:C3280703|OMIM:614408		myopathy, centronuclear, type 3|autosomal dominant centronuclear myopathy caused by mutation in MYF6|MYF6 autosomal dominant centronuclear myopathy|myopathy, centronuclear, 3|CNM3|myopathy, centronuclear, 3; CNM3	http://purl.obolibrary.org/obo/MONDO_0013736	Any autosomal dominant centronuclear myopathy in which the cause of the disease is a mutation in the MYF6 gene.	UMLS:C3280703|http://identifiers.org/omim/614408
MONDO:0013737	hereditary spastic paraplegia 46	biolink:Disease	mondo	ICD10:G11.4|SCTID:723822009|Orphanet:320391|DOID:0110798|UMLS:C2828721|UMLS:C4510081|OMIM:614409	ordo_disease	SPG46|hereditary spastic paraplegia type 46|spastic paraplegia 46, autosomal recessive; SPG46|GBA2 autosomal recessive complex spastic paraplegia|autosomal recessive spastic paraplegia type 46|autosomal recessive complex spastic paraplegia caused by mutation in GBA2|spastic paraplegia 46, autosomal recessive|autosomal recessive spastic paraplegia 46	http://purl.obolibrary.org/obo/MONDO_0013737	A rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase.	UMLS:C4510081|http://identifiers.org/omim/614409|ORPHA:320391|SNOMEDCT:723822009|UMLS:C2828721|DOID:0110798
HP:0000526	Aniridia	biolink:PhenotypicFeature	mondo	MSH:D015783|SNOMEDCT_US:69278003|UMLS:C0003076	hposlim_core	Absent iris	http://purl.obolibrary.org/obo/HP_0000526	Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris.	
MONDO:0001770	gastrin secretion abnormality	biolink:Disease	mondo	ICD9:251.5|SCTID:47344007|DOID:13656|UMLS:C0000774|COHD:194001			http://purl.obolibrary.org/obo/MONDO_0001770		UMLS:C0000774|DOID:13656|SNOMEDCT:47344007
HP:0000528	Anophthalmia	biolink:PhenotypicFeature	mondo	UMLS:C0003119|SNOMEDCT_US:7183006|Fyler:4864|SNOMEDCT_US:204099004|MSH:D000853	hposlim_core	Missing globe of eye|Missing eyeball|Absence of eyeballs|Absence of globes of eyes|No eyeball|No globe of eye|Failure of development of eyeball|Ocular absence|Clinical anophthalmia, unilateral/bilateral|Anophthalmia, clinical	http://purl.obolibrary.org/obo/HP_0000528	Absence of the globe or eyeball.	
MONDO:0013741	familial temporal lobe epilepsy 5	biolink:Disease	mondo	UMLS:C3280730|DOID:0060752|OMIM:614417		ETL5|epilepsy, familial temporal lobe, 5; ETL5|familial temporal lobe epilepsy type 5|epilepsy, familial temporal lobe, 5|epilepsy, familial temporal lobe, type 5	http://purl.obolibrary.org/obo/MONDO_0013741	A temporal lobe epilepsy that has material basis in heterozygous mutation in the CPA6 gene on chromosome 8q13.	DOID:0060752|UMLS:C3280730|http://identifiers.org/omim/614417
MONDO:0013742	familial mesial temporal lobe epilepsy with febrile seizures	biolink:Disease	mondo	Orphanet:165805	ordo_disease	febrile seizures, familial, type 11|febrile seizures, familial, 11|FEB11	http://purl.obolibrary.org/obo/MONDO_0013742		ORPHA:165805
MONDO:0013740	lethal occipital encephalocele-skeletal dysplasia syndrome	biolink:Disease	mondo	UMLS:C3280729|ICD10:Q87.5|OMIM:614416|Orphanet:293925	ordo_malformation_syndrome	RHFCA|radiohumeral fusions with other skeletal and craniofacial anomalies|radiohumeral fusions with other skeletal and craniofacial anomalies; RHFCA	http://purl.obolibrary.org/obo/MONDO_0013740	Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated.	UMLS:C3280729|ORPHA:293925|http://identifiers.org/omim/614416
MONDO:0013745	Joubert syndrome 14	biolink:Disease	mondo	OMIM:614424|DOID:0110983|UMLS:C3280766		Joubert syndrome type 14|TMEM237 Joubert syndrome|Joubert syndrome 14; JBTS14|Joubert syndrome 14|JBTS14|Joubert syndrome caused by mutation in TMEM237	http://purl.obolibrary.org/obo/MONDO_0013745	Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM237 gene.	http://identifiers.org/omim/614424|DOID:0110983|UMLS:C3280766
HP:0000520	Proptosis	biolink:PhenotypicFeature	mondo	UMLS:C1862425|UMLS:C1848490|UMLS:C0015300|SNOMEDCT_US:18265008|MSH:D005094|UMLS:C1837760	hposlim_core	Protrusio bulbi|Anterior bulging of the globe of eye|Eyeballs bulging out|Exophthalmos|Bulging eye|Ocular proptosis|Anterior bulging of the globe|Prominent globes|Prominent eyes|Protruding eyes	http://purl.obolibrary.org/obo/HP_0000520	An eye that is protruding anterior to the plane of the face to a greater extent than is typical.	
MONDO:0037735	sebaceous gland cancer	biolink:Disease	mondo	UMLS:C1382026|NCIT:C8409		malignant sebaceous neoplasm|malignant sebaceous gland neoplasm|malignant neoplasm of sebaceous gland|malignant neoplasm of the sebaceous gland|malignant sebaceous gland tumor|malignant sebaceous tumor|cancer of sebaceous gland|malignant tumor of the sebaceous gland|malignant tumor of sebaceous gland	http://purl.obolibrary.org/obo/MONDO_0037735	A cancer that involves the sebaceous gland.	NCIT:C8409|UMLS:C1382026
MONDO:0013746	ventricular septal defect 1	biolink:Disease	mondo	OMIM:614429|UMLS:C3280777		VSD1|ventricular septal defect 1|ventricular septal defect 1; VSD1|GATA4 ventricular septal defect (disease)|ventricular septal defect (disease) caused by mutation in GATA4|ventricular septal defect type 1	http://purl.obolibrary.org/obo/MONDO_0013746	Any ventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene.	http://identifiers.org/omim/614429|UMLS:C3280777
MONDO:0013743	autosomal systemic lupus erythematosus type 16	biolink:Disease	mondo	OMIM:614420|Orphanet:300345|UMLS:C3280742|ICD10:M32.8	ordo_disease	SLEB16|familial systemic lupus erythematosus|familial SLE|autosomal SLE|systemic lupus erythematosus type 16|systemic lupus erythematosus 16; SLEB16|systemic lupus erythematosus 16	http://purl.obolibrary.org/obo/MONDO_0013743	An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3.	ORPHA:300345|UMLS:C3280742|http://identifiers.org/omim/614420
MONDO:0037736	infratentorial neoplasm	biolink:Disease	mondo	NCIT:C3139		infratentorial neoplasm|infratentorial tumors|neoplasms, infratentorial|infratentorial tumor|infratentorial neoplasms|brain neoplasms, infratentorial	http://purl.obolibrary.org/obo/MONDO_0037736	A benign or malignant neoplasm that occurs in brain parenchymal tissue below the tentorium cerebelli.	NCIT:C3139
MONDO:0013744	cataract 37	biolink:Disease	mondo	DOID:0110252|UMLS:C3280758|ICD10:Q12.0|OMIM:614422		cataract, congenital, cerulean type, 5|cataract 37|cataract 37; CTRCT37|CTRCT37|cataract type 37|CCA5|congenital cataract cerulean type 5	http://purl.obolibrary.org/obo/MONDO_0013744	A cataract that has material basis in variation in the region 12q24.2-q24.3.	http://identifiers.org/omim/614422|DOID:0110252|UMLS:C3280758
MONDO:0037737	peritoneal solitary fibrous tumor	biolink:Disease	mondo	NCIT:C126357|UMLS:C4288403		peritoneal solitary fibrous tumor	http://purl.obolibrary.org/obo/MONDO_0037737	A rare, usually benign fibroblastic neoplasm that arises from the peritoneum. It is characterized by the presence of prominent hemangiopericytoma-like vessels.	NCIT:C126357|UMLS:C4288403
HP:0000522	Alacrima	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:253215004|MSH:C562827|UMLS:C0344505	hposlim_core	Absent lacrimal fluids|Absent tear secretion|Absence of tears in the eyes	http://purl.obolibrary.org/obo/HP_0000522	Absence of tear secretion.	
MONDO:0001769	acquired tear duct stenosis	biolink:Disease	mondo	ICD10:H04.55|COHD:374357|ICD9:375.56|DOID:13655|SCTID:193995004		stenosis of nasolacrimal duct, acquired|acquired stenosis of nasolacrimal duct|acquired nasolacrimal duct stenosis|tear duct - acquired stenosis	http://purl.obolibrary.org/obo/MONDO_0001769		DOID:13655|SNOMEDCT:193995004
MONDO:0001768	stenosis of lacrimal passage	biolink:Disease	mondo	ICD10:H04.54|COHD:441025|ICD9:375.53|SCTID:81345003|ICD10:H04.549|DOID:13654		stenosis of lacrimal canaliculi	http://purl.obolibrary.org/obo/MONDO_0001768		SNOMEDCT:81345003|DOID:13654
HGNC:5273	HSPG2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5273		
MONDO:0001741	hyperparathyroidism	biolink:Disease	mondo	ICD9:252.00|SCTID:66999008|EFO:0008506|OMIMPS:145000|ICD9:252.0|NCIT:C48259|MESH:D006961|ICD10:E21.3|UMLS:C0020502|COHD:133729|DOID:13543		hyperparathyroidism	http://purl.obolibrary.org/obo/MONDO_0001741	Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes.	UMLS:C0020502|NCIT:C48259|SNOMEDCT:66999008|DOID:13543|MESH:D006961
NCBITaxon:39733	Astroviridae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_39733		
MONDO:0001740	cornea squamous cell carcinoma	biolink:Disease	mondo	NCIT:C4552|SCTID:255008003|DOID:13538|UMLS:C0346366		cornea epidermoid carcinoma|epidermoid carcinoma of the cornea|corneal epidermoid carcinoma|squamous cell carcinoma of the cornea|cornea squamous cell carcinoma|squamous cell carcinoma of cornea|corneal squamous cell carcinoma|epidermoid carcinoma of cornea	http://purl.obolibrary.org/obo/MONDO_0001740	A rare squamous cell carcinoma that arises from the cornea.	UMLS:C0346366|DOID:13538|SNOMEDCT:255008003|NCIT:C4552
HGNC:20134	GLRX5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20134		
HGNC:19141	TTBK2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19141		
MONDO:0001745	subserous uterine fibroid	biolink:Disease	mondo	SCTID:95280005|ICD10:D25.2|DOID:13560|UMLS:C0153995|ICD9:218.2|COHD:195770		subserous leiomyoma of uterus	http://purl.obolibrary.org/obo/MONDO_0001745		UMLS:C0153995|SNOMEDCT:95280005|DOID:13560
MONDO:0001744	angle-closure glaucoma	biolink:Disease	mondo	DOID:13550|SCTID:392291006|UMLS:C0017605|MESH:D015812		primary open-angle glaucoma with narrow angles|closed angle glaucoma|angle closure glaucoma|ACG - angle-closure glaucoma|Narrow cleft glaucoma	http://purl.obolibrary.org/obo/MONDO_0001744	The sudden increase of intraocular pressure, resulting in pain and an abrupt decrease in visual acuity.	UMLS:C0017605|MESH:D015812|DOID:13550|SNOMEDCT:392291006
MONDO:0001743	paranasal sinus lymphoma	biolink:Disease	mondo	UMLS:C1335339|NCIT:C6068|DOID:1355		primary paranasal sinus lymphoma|lymphoma of the accessory sinus|lymphoma of accessory sinus|accessory sinus lymphoma|paranasal sinus lymphoma|lymphoma of the paranasal sinus|lymphoma of paranasal sinus	http://purl.obolibrary.org/obo/MONDO_0001743	A lymphoma that arises from the paranasal sinus. Representative examples include diffuse large B-cell lymphoma and extranodal NK/T-cell lymphoma, nasal type.	UMLS:C1335339|NCIT:C6068|DOID:1355
MONDO:0001742	interval angle-closure glaucoma	biolink:Disease	mondo	UMLS:C0154945|DOID:13549|SCTID:65460003|ICD10:H40.23|COHD:437269|ICD9:365.21		prodromal angle closure glaucoma|angle-closure glaucoma, subacute|intermittent angle-closure glaucoma	http://purl.obolibrary.org/obo/MONDO_0001742		UMLS:C0154945|DOID:13549|SNOMEDCT:65460003
MONDO:0013727	pregnancy loss, recurrent, susceptibility to, 1	biolink:Disease	mondo	EFO:0008899|OMIM:614389	predisposition	abortion, spontaneous, recurrent|Rpl|fetal loss, recurrent, susceptibility to|pregnancy loss, recurrent, susceptibility to, 1|F5 pregnancy loss, recurrent, susceptibility|stillbirth, recurrent|pregnancy loss, recurrent, susceptibility to, 1; RPRGL1|Rprgl|embryonic loss, recurrent|miscarriage, recurrent|pregnancy loss, recurrent, susceptibility to, type 1|RPRGL1|pregnancy loss, recurrent, susceptibility caused by mutation in F5	http://purl.obolibrary.org/obo/MONDO_0013727	Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F5 gene.	http://identifiers.org/omim/614389
MONDO:0037738	cauda equina cancer	biolink:Disease	mondo	UMLS:C0349017|SCTID:363477002		cancer of cauda equina|malignant cauda equina neoplasm|malignant neoplasm of cauda equina	http://purl.obolibrary.org/obo/MONDO_0037738	A cancer that involves the cauda equina.	SNOMEDCT:363477002|UMLS:C0349017
MONDO:0013728	pregnancy loss, recurrent, susceptibility to, 2	biolink:Disease	mondo	OMIM:614390	predisposition	pregnancy loss, recurrent, susceptibility caused by mutation in F2|RPRGL2|F2 pregnancy loss, recurrent, susceptibility|pregnancy loss, recurrent, susceptibility to, 2|pregnancy loss, recurrent, susceptibility to, 2; RPRGL2|pregnancy loss, recurrent, susceptibility to, type 2	http://purl.obolibrary.org/obo/MONDO_0013728	Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F2 gene.	http://identifiers.org/omim/614390
MONDO:0037739	benign neoplasm of cauda equina	biolink:Disease	mondo	SCTID:92047003|UMLS:C0686404		benign neoplasm of cauda equina	http://purl.obolibrary.org/obo/MONDO_0037739	A benign neoplasm that involves the cauda equina.	SNOMEDCT:92047003|UMLS:C0686404
MONDO:0013725	colorectal cancer, hereditary nonpolyposis, type 7	biolink:Disease	mondo	OMIM:614385|MESH:C565777|UMLS:C1858380|DOID:0070276		colorectal cancer, hereditary nonpolyposis, type 7|MLH3 hereditary nonpolyposis colon cancer|HNPCC7|hereditary nonpolyposis colon cancer caused by mutation in MLH3|colorectal cancer, hereditary nonpolyposis, type 7; HNPCC7	http://purl.obolibrary.org/obo/MONDO_0013725	Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH3 gene.	DOID:0070276|http://identifiers.org/omim/614385|UMLS:C1858380|MESH:C565777
MONDO:0013726	lethal encephalopathy due to mitochondrial and peroxisomal fission defect	biolink:Disease	mondo	ICD10:G31.8|Orphanet:330050|UMLS:C3280660|DOID:0070347|OMIM:614388	ordo_disease	EMPF1|encephalopathy due to defective mitochondrial and peroxisomal fission 1|encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission|EMPF|encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission; EMPF|encephalopathy due to defective mitochondrial and peroxisomal fission 1; EMPF1	http://purl.obolibrary.org/obo/MONDO_0013726		UMLS:C3280660|DOID:0070347|http://identifiers.org/omim/614388|ORPHA:330050
MONDO:0013729	pregnancy loss, recurrent, susceptibility to, 3	biolink:Disease	mondo	OMIM:614391	predisposition	pregnancy loss, recurrent, susceptibility to, type 3|RPRGL3|ANXA5 pregnancy loss, recurrent, susceptibility|pregnancy loss, recurrent, susceptibility caused by mutation in ANXA5|pregnancy loss, recurrent, susceptibility to, 3|pregnancy loss, recurrent, susceptibility to, 3; RPRGL3	http://purl.obolibrary.org/obo/MONDO_0013729	Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the ANXA5 gene.	http://identifiers.org/omim/614391
MONDO:0013730	graft versus host disease	biolink:Disease	mondo	UMLS:C0018133|ICD10:T86.0|ICD9:279.50|COHD:443216|SCTID:234646005|NCIT:C3063|Orphanet:39812|OMIM:614395|MedDRA:10018651|MESH:D006086	ordo_disease	graft-VS-host diseases|graft-versus-host disease, resistance to|GVH|homologous wasting disease|diseases, graft-VS-host|graft-versus-host disease|diseases, graft-versus-host|graft-versus-host disease, susceptibility to; GVHDS|graft VS. host disease|disease, graft-VS-host|graft versus host disease|graft-versus-host-disease|runt disease|graft-versus-host disease, susceptibility to|disease, graft-versus-host|graft VS host disease|graft-VS-host disease|GVHD|GVHDS|graft-versus-host diseases|disease, runt|disease, homologous wasting	http://purl.obolibrary.org/obo/MONDO_0013730	Acute graft-versus-host disease (GVHD) occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen.	SNOMEDCT:234646005|MEDDRA:10018651|MESH:D006086|ORPHA:39812|UMLS:C0018133|NCIT:C3063|http://identifiers.org/omim/614395
MONDO:0013731	MEGF10-Related Myopathy	biolink:Disease	mondo	Orphanet:439212|OMIM:614399|ICD10:G71.2|GARD:0012199|UMLS:C3280679|DOID:0111333	ordo_disease	myopathy, areflexia, respiratory distress, and dysphagia, early-onset|early-onset myopathy, areflexia, respiratory distress and dysphagia|A congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (MEGF10) gene, which causes early-onset myopathy characterized by severe weakness, scoliosis, joint contractures, areflexia, respiratory distress, and dysphagia, and a milder phenotype of minicore myopathy.|MEGF10 Myopathy|EMARDD|early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome|myopathy, areflexia, respiratory distress, and dysphagia, early-onset; EMARDD|myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant	http://purl.obolibrary.org/obo/MONDO_0013731		http://identifiers.org/omim/614399|DOID:0111333|UMLS:C3280679|ORPHA:439212
MONDO:0037742	endometrioid stromal and related neoplasms	biolink:Disease	mondo	UMLS:C4287868|NCIT:C8384		endometrioid stromal and related tumors|endometrioid stromal and related neoplasms	http://purl.obolibrary.org/obo/MONDO_0037742	A category of mesenchymal gynecologic neoplasms. It includes endometrial stromal nodule, endometrioid stromal sarcoma, and undifferentiated sarcoma. Endometrial stromal nodule has been described in the uterine corpus only. Histologically, it is characterized by the lack of infiltration of the surrounding tissues. Endometrioid stromal sarcoma affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma. Undifferentiated sarcoma was previously also known as high grade endometrial stromal sarcoma. In 2014, high grade endometrial stromal sarcoma was reclassified and is currently considered a distinct and rare neoplasm that affects the uterine corpus only. It appears to have a prognosis that falls between low grade endometrial stromal sarcoma and undifferentiated sarcoma. The latter affects the uterine corpus and rarely the remainder of the anatomic sites.	NCIT:C8384|UMLS:C4287868
MONDO:0037743	mediastinal soft tissue cancer	biolink:Disease	mondo	UMLS:C1334599|NCIT:C6642		malignant soft tissue tumor of the mediastinum|malignant mediastinal mesenchymal tumor|malignant soft tissue tumor of mediastinum|mediastinal mesenchymal tumor, malignant|malignant mediastinal soft tissue tumor|malignant soft tissue neoplasm of the mediastinum|malignant soft tissue neoplasm of mediastinum|malignant mediastinal soft tissue neoplasm	http://purl.obolibrary.org/obo/MONDO_0037743	A malignant neoplasm that arises from the soft tissues of the mediastinum.	NCIT:C6642|UMLS:C1334599
MONDO:0037744	neoplasm of retromolar area	biolink:Disease	mondo	SCTID:126804008|UMLS:C0345590		neoplasm of retromolar area|tumor of retromolar area	http://purl.obolibrary.org/obo/MONDO_0037744		SNOMEDCT:126804008|UMLS:C0345590
MONDO:0013734	microphthalmia, syndromic 11	biolink:Disease	mondo	OMIM:614402|UMLS:C3553077		microphthalmia, syndromic type 11|microphthalmia, syndromic 11|VAX1 syndromic microphthalmia|MCOPS11|syndromic microphthalmia caused by mutation in VAX1|microphthalmia, syndromic 11; MCOPS11	http://purl.obolibrary.org/obo/MONDO_0013734	Any syndromic microphthalmia in which the cause of the disease is a mutation in the VAX1 gene.	http://identifiers.org/omim/614402|UMLS:C3553077
MONDO:0037745	fibromyxoid tumor	biolink:Disease	mondo	ICDO:8811/0|NCIT:C66760		fibromyxoma|fibromyxoid neoplasm|fibromyxoma, benign|fibromyxoid tumor	http://purl.obolibrary.org/obo/MONDO_0037745	A soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle-shaped to round cells in a fibromyxoid stroma. Metaplastic bone formation may or may not be present.	NCIT:C66760
MONDO:0037746	malignant vaginal mixed epithelial and mesenchymal neoplasm	biolink:Disease	mondo	UMLS:C1512974|NCIT:C40276		malignant vaginal mixed epithelial and mesenchymal neoplasm|malignant vaginal mixed epithelial and mesenchymal tumor	http://purl.obolibrary.org/obo/MONDO_0037746	A malignant neoplasm that arises from the vagina and is characterized by the presence of an epithelial and a mesenchymal component. This category includes adenosarcoma, carcinosarcoma, and malignant mixed tumor resembling synovial sarcoma.	UMLS:C1512974|NCIT:C40276
MONDO:0013735	microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome	biolink:Disease	mondo	UMLS:C3280692|Orphanet:329332|OMIM:614407	ordo_malformation_syndrome	microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome|Zaki-Gleeson syndrome|MCHCCD|microcephaly, cerebellar hypoplasia, and CARDIAC conduction defect syndrome|microcephaly, cerebellar hypoplasia, and CARDIAC conduction defect syndrome; MCHCCD	http://purl.obolibrary.org/obo/MONDO_0013735	Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern.	http://identifiers.org/omim/614407|ORPHA:329332|UMLS:C3280692
MONDO:0037747	spinal injury	biolink:Disease	mondo	MESH:D013124|SCTID:262521009		injury of vertebral column|vertebral column injury	http://purl.obolibrary.org/obo/MONDO_0037747	A injury that involves the vertebral column.	MESH:D013124|SNOMEDCT:262521009
MONDO:0013732	glucocorticoid therapy, response to	biolink:Disease	mondo	OMIM:614400		glucocorticoid therapy, response to; GCTR|glucocorticoid therapy, response to|GCTR	http://purl.obolibrary.org/obo/MONDO_0013732		http://identifiers.org/omim/614400
MONDO:0037748	hyperlipoproteinemia	biolink:Disease	mondo	UMLS:C0020476|NCIT:C34709|HP:0010980		hyperlipoproteinemia	http://purl.obolibrary.org/obo/MONDO_0037748	An elevated concentration of lipoproteins.	NCIT:C34709|UMLS:C0020476
MONDO:0013733	accelerated tumor formation, susceptibility to	biolink:Disease	mondo	OMIM:614401	predisposition	ACTFS|accelerated tumor formation, susceptibility to; ACTFS|accelerated tumor formation, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0013733		http://identifiers.org/omim/614401
MONDO:0001738	obsolete osteopetrosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001738		
MONDO:0001737	tetanus neonatorum	biolink:Disease	mondo	DOID:13521|ICD10:A33|NCIT:C116814|ICD9:771.3|UMLS:C0343312|SCTID:43424001		neonatal tetanus	http://purl.obolibrary.org/obo/MONDO_0001737	A syndrome of generalized rigidity with muscle spasms and seizures in the neonatal period resulting from Clostridium tetani toxin production.	SNOMEDCT:43424001|UMLS:C0343312|NCIT:C116814|DOID:13521
MONDO:0001736	neonatal infective mastitis	biolink:Disease	mondo	COHD:76221|UMLS:C0158948|DOID:13520|ICD9:771.5|SCTID:3468005|ICD10:P39.0			http://purl.obolibrary.org/obo/MONDO_0001736		SNOMEDCT:3468005|UMLS:C0158948|DOID:13520
MONDO:0001735	paranasal sinus disease	biolink:Disease	mondo	ICD9:478.1|NCIT:C26843|MESH:D010254|UMLS:C0030469|SCTID:7393007|DOID:1352		disease of paranasal sinus|paranasal sinus disease or disorder|disorder of nasal sinus|paranasal sinus disorder|disorder of paranasal sinus|sinus disorder|disorder of paranasal sinus|disease or disorder of paranasal sinus|paranasal sinus disease	http://purl.obolibrary.org/obo/MONDO_0001735	A disease involving the paranasal sinus.	DOID:1352|NCIT:C26843|UMLS:C0030469|SNOMEDCT:7393007|MESH:D010254
HGNC:5285	HTOR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5285		
HGNC:5286	HTR1A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5286		
MONDO:0037740	malignant central nervous system mesenchymal, non-meningothelial neoplasm	biolink:Disease	mondo	NCIT:C6758|UMLS:C1334571		malignant central nervous system mesenchymal, non-meningothelial tumor|malignant soft tissue tumor of central nervous system|malignant soft tissue tumor of the central nervous system|malignant soft tissue tumor of the CNS|soft tissue cancer of central nervous system|malignant soft tissue tumor of CNS|malignant CNS soft tissue neoplasm|soft tissue cancer of the central nervous system|malignant central nervous system soft tissue tumor|malignant soft tissue neoplasm of the CNS|malignant central nervous system soft tissue neoplasm|malignant soft tissue neoplasm of CNS|malignant CNS soft tissue tumor|malignant central nervous system mesenchymal non-meningothelial tumor|malignant soft tissue neoplasm of central nervous system|central nervous system mesenchymal non-meningothelial tumor, malignant|malignant soft tissue neoplasm of the central nervous system|malignant central nervous system mesenchymal, non-meningothelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0037740	A metastasizing mesenchymal, non-meningothelial neoplasm that arises from the central nervous system.	NCIT:C6758|UMLS:C1334571
MONDO:0001739	purulent labyrinthitis	biolink:Disease	mondo	UMLS:C0155506|DOID:13534|SCTID:24817009|ICD9:386.33		acute suppurative labyrinthitis|suppurative labyrinthitis|bacterial labyrinthitis	http://purl.obolibrary.org/obo/MONDO_0001739	A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma.	UMLS:C0155506|SNOMEDCT:24817009|DOID:13534
MONDO:0001752	alveolar periostitis	biolink:Disease	mondo	ICD9:526.5|MESH:D004368|ICD10:M27.3|COHD:201332|UMLS:C0013240|SCTID:61804006|DOID:13585		alveolitis of jaw|jaw skeleton extrinsic allergic alveolitis|dry socket|extrinsic allergic alveolitis of jaw skeleton|dry tooth socket	http://purl.obolibrary.org/obo/MONDO_0001752	A condition sometimes occurring after tooth extraction, particularly after traumatic extraction, resulting in a dry appearance of the exposed bone in the socket, due to disintegration or loss of the blood clot. It is basically a focal osteomyelitis without suppuration and is accompanied by severe pain (alveolalgia) and foul odor. (Dorland, 28th ed)	UMLS:C0013240|DOID:13585|SNOMEDCT:61804006|MESH:D004368
MONDO:0001751	cholestasis	biolink:Disease	mondo	ICD10:K83.1|DOID:13580|MESH:D002779|ICD9:576.2|UMLS:C0008370|COHD:201066|SCTID:30144000		obstruction of bile duct|bile occlusion	http://purl.obolibrary.org/obo/MONDO_0001751	Impairment of the bile flow caused by obstruction within the liver, or outside the liver in the bile duct system.	MESH:D002779|SNOMEDCT:30144000|UMLS:C0008370|DOID:13580|NCIT:C83006
NCBITaxon:39724	Circoviridae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_39724		
HGNC:20145	GPR143	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20145		
MONDO:0001750	non-renal secondary hyperparathyroidism	biolink:Disease	mondo	ICD9:252.02|DOID:13575			http://purl.obolibrary.org/obo/MONDO_0001750		DOID:13575
NCBITaxon:39725	Circovirus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_39725		
MONDO:0001756	frontal sinus cancer	biolink:Disease	mondo	SCTID:363427000|UMLS:C0153478|NCIT:C3542|ICD10:C31.2|ICD9:160.4|DOID:1360		malignant frontal sinus neoplasm|malignant tumor of the frontal sinus|malignant neoplasm of the frontal sinus|malignant frontal sinus tumor|malignant tumor of frontal sinus|cancer of frontal sinus|frontal sinus cancer|malignant neoplasm of frontal sinus	http://purl.obolibrary.org/obo/MONDO_0001756	A malignant neoplasm involving the frontal sinus.	UMLS:C0153478|NCIT:C3542|DOID:1360|SNOMEDCT:363427000
MONDO:0001755	obsolete vaginal carcinosarcoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001755		
MONDO:0001754	eclampsia	biolink:Disease	mondo	ICD10:O15.9|MESH:D004461|ICD10:O15|ICD9:642.64|DOID:13593|GARD:0006316|NCIT:C87167|UMLS:C0013537|SCTID:303063000|UMLS:C0156678	gard_rare	eclampsia, postpartum|eclampsia in puerperium|postpartum eclampsia	http://purl.obolibrary.org/obo/MONDO_0001754	A potentially life-threatening pregnancy-related disorder characterized by tonic-clonic seizures in association with hypertension after the twentieth week of gestation and up to six weeks postpartum and in the absence of other potential causes of seizures.	UMLS:C0013537|SNOMEDCT:303063000|NCIT:C87167|DOID:13593|UMLS:C0156678|MESH:D004461
MONDO:0001753	female infertility of uterine origin	biolink:Disease	mondo	COHD:201635|ICD9:628.3|DOID:13589|ICD10:N97.2|SCTID:26899006		infertility, female, of uterine origin	http://purl.obolibrary.org/obo/MONDO_0001753		SNOMEDCT:26899006|DOID:13589
MONDO:0013716	AAA4	biolink:Disease	mondo	OMIM:614375|UMLS:C3280597		AAA4|aortic aneurysm, familial abdominal, 4|aortic aneurysm, familial abdominal, 4; AAA4	http://purl.obolibrary.org/obo/MONDO_0013716		UMLS:C3280597|http://identifiers.org/omim/614375
MONDO:0013717	asphyxiating thoracic dystrophy 5	biolink:Disease	mondo	UMLS:C3280598|ICD10:Q77.2|OMIM:614376|DOID:0110089		ATD5|asphyxiating thoracic dystrophy type 5|short-rib thoracic dysplasia 5 with or without polydactyly; SRTD5|asphyxiating thoracic dystrophy 5|Jeune syndrome caused by mutation in WDR19|SRTD5|WDR19 Jeune syndrome|short-rib thoracic dysplasia 5 with or without polydactyly	http://purl.obolibrary.org/obo/MONDO_0013717	Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene.	UMLS:C3280598|http://identifiers.org/omim/614376|DOID:0110089
HP:0000502	Abnormal conjunctiva morphology	biolink:PhenotypicFeature	mondo	UMLS:C4025847	hposlim_core		http://purl.obolibrary.org/obo/HP_0000502	An abnormality of the conjunctiva.	
MONDO:0013714	mannose-binding lectin deficiency	biolink:Disease	mondo	OMIM:614372|ICD9:279.19|MESH:C563602|SCTID:703538003|UMLS:C3280586		mannose-binding protein deficiency|lectin complement activation pathway, defect in, 1|mannose-binding lectin deficiency|MBL deficiency|mannose-binding lectin deficiency; MBLD|MBL2 deficiency|MBLD|MBP deficiency	http://purl.obolibrary.org/obo/MONDO_0013714		MESH:C563602|UMLS:C3280586|http://identifiers.org/omim/614372|SNOMEDCT:703538003
HP:0000505	Visual impairment	biolink:PhenotypicFeature	mondo	UMLS:C0042798|MSH:D014786|SNOMEDCT_US:246635007|SNOMEDCT_US:397540003|UMLS:C3665347|MSH:D015354|SNOMEDCT_US:7973008	hposlim_core	Visual impairment|Impaired vision|Loss of eyesight|Poor vision	http://purl.obolibrary.org/obo/HP_0000505	Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.	
HP:0000504	Abnormality of vision	biolink:PhenotypicFeature	mondo	UMLS:C4025846	hposlim_core	Abnormality of vision|Abnormality of sight|Vision issue	http://purl.obolibrary.org/obo/HP_0000504	Abnormality of eyesight (visual perception).	
MONDO:0013715	amyotrophic lateral sclerosis type 16	biolink:Disease	mondo	UMLS:C3280587|DOID:0060207|OMIM:614373		amyotrophic lateral sclerosis caused by mutation in SIGMAR1|amyotrophic lateral sclerosis 16, juvenile|ALS16|SIGMAR1 amyotrophic lateral sclerosis|amyotrophic lateral sclerosis 16, juvenile; ALS16|amyotrophic lateral sclerosis 16	http://purl.obolibrary.org/obo/MONDO_0013715	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SIGMAR1 gene.	DOID:0060207|UMLS:C3280587|http://identifiers.org/omim/614373
HP:0000509	Conjunctivitis	biolink:PhenotypicFeature	mondo	UMLS:C1864156|UMLS:C0009763|SNOMEDCT_US:9826008|MSH:D003231	hposlim_core	Pink eye|Conjunctivitis, recurrent	http://purl.obolibrary.org/obo/HP_0000509	Inflammation of the conjunctiva.	
MONDO:0013718	nephronophthisis 13	biolink:Disease	mondo	UMLS:C3280612|OMIM:614377|DOID:0111121		nephronophthisis type 13|NPHP13|nephronophthisis 13; NPHP13|nephronophthisis 13	http://purl.obolibrary.org/obo/MONDO_0013718	A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14.	UMLS:C3280612|http://identifiers.org/omim/614377|DOID:0111121
HP:0000508	Ptosis	biolink:PhenotypicFeature	mondo	MSH:D001763|SNOMEDCT_US:11934000|UMLS:C0005745	hposlim_core	Eye drop|Drooping upper eyelid|Blepharoptosis|Eyelid ptosis	http://purl.obolibrary.org/obo/HP_0000508	The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).	
MONDO:0013719	cranioectodermal dysplasia 4	biolink:Disease	mondo	OMIM:614378|UMLS:C3280616		cranioectodermal dysplasia 4; CED4|cranioectodermal dysplasia type 4|CED4|cranioectodermal dysplasia 4	http://purl.obolibrary.org/obo/MONDO_0013719		UMLS:C3280616|http://identifiers.org/omim/614378
MONDO:0013720	complement component 4b deficiency	biolink:Disease	mondo	UMLS:C3280641|OMIM:614379|ICD10:D84.1|DOID:0060298		complement component 4b deficiency|C4B classic complement early component deficiency|C4B deficiency|complement component 4B deficiency; C4BD|classic complement early component deficiency caused by mutation in C4B|C4BD	http://purl.obolibrary.org/obo/MONDO_0013720	Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4B gene.	http://identifiers.org/omim/614379|DOID:0060298|UMLS:C3280641
MONDO:0013723	bacteremia, susceptibility to, 1	biolink:Disease	mondo	OMIM:614382	predisposition	bacteremia, susceptibility to, type 1|bacteremia, susceptibility to, 1; BACTS1|bacteremia, resistance to|bacteremia, susceptibility caused by mutation in TIRAP|bacteremia, susceptibility to, 1|TIRAP bacteremia, susceptibility|BACTS1	http://purl.obolibrary.org/obo/MONDO_0013723	Any bacteremia, susceptibility in which the cause of the disease is a mutation in the TIRAP gene.	http://identifiers.org/omim/614382
MONDO:0013724	bacteremia, susceptibility to, 2	biolink:Disease	mondo	OMIM:614383	predisposition	bacteremia, susceptibility to, type 2|bacteremia, susceptibility caused by mutation in CISH|bacteremia, susceptibility to, 2; BACTS2|bacteremia, susceptibility to, 2|CISH bacteremia, susceptibility|BACTS2	http://purl.obolibrary.org/obo/MONDO_0013724	Any bacteremia, susceptibility in which the cause of the disease is a mutation in the CISH gene.	http://identifiers.org/omim/614383
MONDO:0013721	complement component 4a deficiency	biolink:Disease	mondo	OMIM:614380|UMLS:C3280642|ICD10:D84.1|MESH:C565167|DOID:0060297		complement component 4a deficiency|C4A classic complement early component deficiency|C4AD|classic complement early component deficiency caused by mutation in C4A|C4A deficiency|complement component 4A deficiency; C4AD	http://purl.obolibrary.org/obo/MONDO_0013721	Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4A gene.	UMLS:C3280642|http://identifiers.org/omim/614380|MESH:C565167|DOID:0060297
HP:0000501	Glaucoma	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:23986001|MSH:D005901|UMLS:C0017601	hposlim_core		http://purl.obolibrary.org/obo/HP_0000501	Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.	
MONDO:0013722	hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	biolink:Disease	mondo	ICD10:G11.1|UMLS:C3280644|DOID:0060797|OMIM:614381		HLD8|leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism; HLD8|POLR3B leukodystrophy|leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism|leukodystrophy caused by mutation in POLR3B	http://purl.obolibrary.org/obo/MONDO_0013722	Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene.	UMLS:C3280644|http://identifiers.org/omim/614381|DOID:0060797
MONDO:0001749	cortical senile cataract	biolink:Disease	mondo	DOID:13574|ICD9:366.15|UMLS:C0154980|SCTID:78875003|COHD:432895		lens cortex senile cataract|senile cataract of lens cortex|cortical senile cataract	http://purl.obolibrary.org/obo/MONDO_0001749	A senile cataract that involves the lens cortex.	UMLS:C0154980|SNOMEDCT:78875003|DOID:13574
MONDO:0001748	maxillary sinus carcinoma	biolink:Disease	mondo	NCIT:C3540|SCTID:363425008|NCIT:C9332|DOID:1357|ICD9:160.2|ICD10:C31.0		cancer of maxillary sinus|maxillary sinus carcinoma|malignant neoplasm of maxillary sinus|malignant neoplasm of the maxillary sinus|malignant maxillary sinus tumor|malignant neoplasm of antrum|malignant tumor of the maxillary sinus|maxillary sinus cancer|malignant tumor of maxillary sinus|carcinoma of maxillary sinus|malignant maxillary sinus neoplasm	http://purl.obolibrary.org/obo/MONDO_0001748	A carcinoma that arises from the maxillary sinus. Representative examples include squamous cell carcinoma, adenocarcinoma, and adenoid cystic carcinoma.	DOID:1357|NCIT:C3540|SNOMEDCT:363425008|NCIT:C9332
HGNC:5293	HTR2A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5293		
MONDO:0001747	tibial collateral ligament bursitis	biolink:Disease	mondo	DOID:13566|UMLS:C0158315|SCTID:44245003|ICD9:726.62|COHD:435626			http://purl.obolibrary.org/obo/MONDO_0001747		SNOMEDCT:44245003|UMLS:C0158315|DOID:13566
MONDO:0001746	optic disk drusen	biolink:Disease	mondo	MESH:D015594|SCTID:33629003|DOID:13561|ICD9:377.21|COHD:436701|UMLS:C0029128|ICD10:H47.32		optic nerve head drusen|drusen of optic disc	http://purl.obolibrary.org/obo/MONDO_0001746	Optic disk bodies composed primarily of acid mucopolysaccharides that may produce pseudopapilledema (elevation of the optic disk without associated intracranial hypertension) and visual field deficits. Drusen may also occur in the retina (see retinal drusen). (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p355)	UMLS:C0029128|MESH:D015594|SNOMEDCT:33629003|DOID:13561
MONDO:0023111	familial capillaro-venous leptomeningeal angiomatosis	biolink:Disease	mondo	UMLS:C2931262|GARD:0009423|MESH:C536609	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023111		MESH:C536609|UMLS:C2931262
MONDO:0023113	familial colorectal cancer	biolink:Disease	mondo	GARD:0008533|UMLS:CN029768	gard_rare	hereditary colorectal cancer|colorectal cancer, familial	http://purl.obolibrary.org/obo/MONDO_0023113	Familial colon cancer is a cluster of colon cancer within a family. Most cases of colon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes (mutations) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories.	UMLS:CN029768
NCBITaxon:5820	Plasmodium	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_5820		
MONDO:0011129	glaucoma type 1C	biolink:Disease	mondo	OMIM:601682|GARD:0002484|UMLS:C1866483	gard_rare	GLC1C|glaucoma 1, primary open angle, C; GLC1C|glaucoma 1, primary open angle, C	http://purl.obolibrary.org/obo/MONDO_0011129		UMLS:C1866483|http://identifiers.org/omim/601682
MONDO:0011133	deaf blind hypopigmentation syndrome, Yemenite type	biolink:Disease	mondo	OMIM:601706|GARD:0005535|SCTID:721084001|Orphanet:3214|UMLS:C1866425|MESH:C536771	ordo_malformation_syndrome	Yemenite (Warburg) deaf-blind hypopigmentation syndrome|Yemenite deaf-blind hypopigmentation syndrome|Warburg-Thomsen syndrome|Warburg Thomsen syndrome	http://purl.obolibrary.org/obo/MONDO_0011133	Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.	MESH:C536771|SNOMEDCT:721084001|UMLS:C1866425|ORPHA:3214|http://identifiers.org/omim/601706
MONDO:0013796	chromosome 17q12 duplication syndrome	biolink:Disease	mondo	OMIM:614526|ICD10:Q92.3|Orphanet:261272|GARD:0013296|UMLS:C3281137|SCTID:764435003|DOID:0060433	ordo_malformation_syndrome	trisomy 17q12|recurrent duplication of 17q12|17q12 microduplication|chromosome 17q12 duplication syndrome|17q12 duplication|dup(17)(q12)|17q12 microduplication syndrome	http://purl.obolibrary.org/obo/MONDO_0013796	17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia.	UMLS:C3281137|DOID:0060433|SNOMEDCT:764435003|ORPHA:261272|http://identifiers.org/omim/614526
MONDO:0011132	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	biolink:Disease	mondo	ICD10:D82.8|SCTID:720345008|MESH:C536781|DOID:0060769|OMIM:601705|Orphanet:169095|UMLS:C1866426|GARD:0004358	gard_rare|ordo_disease	winged helix deficiency|severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome|alymphoid cystic thymic dysgenesis|T-cell immunodeficiency, congenital alopecia and nail dystrophy|T-cell immunodeficiency, congenital alopecia, and nail dystrophy|alopecia immunodeficiency|congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency|Pignata Guarino syndrome|FOXN1 deficiency	http://purl.obolibrary.org/obo/MONDO_0011132	A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has material basis in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12.	ORPHA:169095|UMLS:C1866426|DOID:0060769|http://identifiers.org/omim/601705|SNOMEDCT:720345008|MESH:C536781
MONDO:0013797	chromosome 17q12 deletion syndrome	biolink:Disease	mondo	ICD10:Q93.5|GARD:0013297|Orphanet:261265|DOID:0060404|UMLS:C3281138|UMLS:C4518822|SCTID:733519008|OMIM:614527	ordo_malformation_syndrome	17q12 deletion syndrome|17q12 microdeletion syndrome|Del(17)(q12)|17q12 recurrent deletion syndrome|monosomy 17q12|chromosome 17q12 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0013797	17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transcient hypercalcaemia have also been reported.	UMLS:C3281138|DOID:0060404|ORPHA:261265|UMLS:C4518822|http://identifiers.org/omim/614527|SNOMEDCT:733519008
MONDO:0013794	thrombocythemia 3	biolink:Disease	mondo	UMLS:C3281125|OMIM:614521		thrombocythemia type 3|JAK2 essential thrombocythemia|essential thrombocythemia caused by mutation in JAK2|thrombocytosis 3|thrombocythemia 3|thrombocythemia 3; THCYT3|THCYT3	http://purl.obolibrary.org/obo/MONDO_0013794	Any essential thrombocythemia in which the cause of the disease is a mutation in the JAK2 gene.	http://identifiers.org/omim/614521|UMLS:C3281125
MONDO:0011135	superior transverse scapular ligament, calcification of, familial	biolink:Disease	mondo	UMLS:C1866424|OMIM:601708|MESH:C566638		superior transverse scapular ligament, calcification of, familial	http://purl.obolibrary.org/obo/MONDO_0011135		UMLS:C1866424|http://identifiers.org/omim/601708|MESH:C566638
MONDO:0011134	curry-Jones syndrome	biolink:Disease	mondo	OMIM:601707|SCTID:720819006|UMLS:C0795915|GARD:0005584|ICD10:Q87.0|MESH:C536735|Orphanet:1553	ordo_malformation_syndrome|gard_rare	CRJS|curry-JONES syndrome; CRJS|corpus callosum agenesis-polysyndactyly syndrome|corpus callosum agenesis polysyndactyly|curry-Jones syndrome|curry Jones syndrome|craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development	http://purl.obolibrary.org/obo/MONDO_0011134	Curry-Jones syndrome is a form of syndromic craniosynostosis, characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.	MESH:C536735|SNOMEDCT:720819006|http://identifiers.org/omim/601707|ORPHA:1553|UMLS:C0795915
MONDO:0013795	fibrochondrogenesis 2	biolink:Disease	mondo	UMLS:C3281128|OMIM:614524		fibrochondrogenesis 2; FBCG2|FBCG2|fibrochondrogenesis type 2|COL11A2 fibrochondrogenesis|fibrochondrogenesis 2|fibrochondrogenesis caused by mutation in COL11A2	http://purl.obolibrary.org/obo/MONDO_0013795	Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A2 gene.	UMLS:C3281128|http://identifiers.org/omim/614524
HP:0000554	Uveitis	biolink:PhenotypicFeature	mondo	UMLS:C0042164|MSH:D014605|SNOMEDCT_US:128473001	hposlim_core		http://purl.obolibrary.org/obo/HP_0000554	Inflammation of one or all portions of the uveal tract.	
MONDO:0011137	retinitis pigmentosa 19	biolink:Disease	mondo	GARD:0010398|ICD10:H35.5|UMLS:C1866422|DOID:0110354|OMIM:601718|MESH:C566637	gard_rare	retinitis pigmentosa 19|RP19|ABCA4 retinitis pigmentosa|retinitis pigmentosa 19; RP19|retinitis pigmentosa type 19|retinitis pigmentosa caused by mutation in ABCA4|RP 19	http://purl.obolibrary.org/obo/MONDO_0011137	Any retinitis pigmentosa in which the cause of the disease is a mutation in the ABCA4 gene.	DOID:0110354|UMLS:C1866422|http://identifiers.org/omim/601718|MESH:C566637
HGNC:10799	SFTPA2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10799		
MONDO:0011136	Quebec platelet disorder	biolink:Disease	mondo	MESH:C536260|ICD10:D69.1|GARD:0008345|UMLS:C1866423|Orphanet:220436|OMIM:601709|DOID:0111050	ordo_disease|gard_rare	BDPLT5|platelet-type bleeding disorder 5|QPD|bleeding disorder, platelet-type, 5|factor 5 Quebec|Quebec platelet disorder|Quebec platelet disorder; QPD|factor V Quebec	http://purl.obolibrary.org/obo/MONDO_0011136	Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds.	UMLS:C1866423|ORPHA:220436|http://identifiers.org/omim/601709|DOID:0111050|MESH:C536260
HP:0000553	Abnormal uvea morphology	biolink:PhenotypicFeature	mondo	UMLS:C4025842		Abnormality of the uvea	http://purl.obolibrary.org/obo/HP_0000553	An abnormality of the uvea, the vascular layer of the eyeball.	
HP:0000556	Retinal dystrophy	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:314407005|UMLS:C0854723|MSH:D058499		Breakdown of light-sensitive cells in back of eye	http://purl.obolibrary.org/obo/HP_0000556	Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.	
MONDO:0011139	preaxial hallucal polydactyly	biolink:Disease	mondo	MESH:C566632|OMIM:601759|UMLS:C1866339		preaxial hallucal polydactyly	http://purl.obolibrary.org/obo/MONDO_0011139		MESH:C566632|UMLS:C1866339|http://identifiers.org/omim/601759
MONDO:0013798	chromosome 16q22 deletion syndrome	biolink:Disease	mondo	OMIM:614541|UMLS:C3281152|DOID:0060401		chromosome 16q22 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0013798		UMLS:C3281152|DOID:0060401|http://identifiers.org/omim/614541
MONDO:0011138	systemic lupus erythematosus, susceptibility to, 1	biolink:Disease	mondo	OMIM:601744	predisposition	systemic lupus erythematosus, susceptibility to, 1|systemic lupus erythematosus, susceptibility to, type 1|SLEB1|TLR5 systemic lupus erythematosus (disease)|susceptibility to systemic lupus erythematosus 1|systemic lupus erythematosus, susceptibility to, 1; SLEB1|systemic lupus erythematosus, resistance to, 1|systemic lupus erythematosus (disease) caused by mutation in TLR5	http://purl.obolibrary.org/obo/MONDO_0011138	Any systemic lupus erythematosus in which the cause of the disease is a mutation in the TLR5 gene.	http://identifiers.org/omim/601744
MONDO:0013799	efavirenz, poor metabolism of	biolink:Disease	mondo	OMIM:614546		efavirenz, poor metabolism of|efavirenz central nervous system toxicity, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0013799		http://identifiers.org/omim/614546
HGNC:10798	SFTPA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10798		
HGNC:19129	PSAT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19129		
MONDO:0013792	intracerebral hemorrhage	biolink:Disease	mondo	MESH:D002543|EFO:0005669|SCTID:274100004|ICD9:431|OMIM:614519		ich|hemorrhage, intracerebral, susceptibility to|hemorrhage, intracerebral, susceptibility to; ich|stroke, hemorrhagic, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0013792	Bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma.	SNOMEDCT:274100004|http://identifiers.org/omim/614519|MESH:D002543
HGNC:19125	FGD4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19125		
MONDO:0013793	encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency	biolink:Disease	mondo	OMIM:614520|UMLS:C3281106		encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency	http://purl.obolibrary.org/obo/MONDO_0013793		http://identifiers.org/omim/614520|UMLS:C3281106
MONDO:0013790	mirror movements 2	biolink:Disease	mondo	UMLS:C3281089|OMIM:614508		RAD51 familial congenital mirror movements|familial congenital mirror movements caused by mutation in RAD51|mirror movements 2|mirror movements type 2|MRMV2|mirror movements 2; MRMV2	http://purl.obolibrary.org/obo/MONDO_0013790	Any familial congenital mirror movements in which the cause of the disease is a mutation in the RAD51 gene.	http://identifiers.org/omim/614508|UMLS:C3281089
MONDO:0011131	tricho-oculo-dermo-vertebral syndrome	biolink:Disease	mondo	GARD:0001553|OMIM:601701|MESH:C537441|Orphanet:3354	ordo_malformation_syndrome	Alves syndrome|Todv syndrome|Trichooculodermovertebral syndrome|ectodermal dysplasia - cataracts - kyphoscoliosis|ectodermal dysplasia-cataracts-kyphoscoliosis syndrome|Alves-dos Santos-Castelo syndrome|arthrogryposis and ectodermal dysplasia	http://purl.obolibrary.org/obo/MONDO_0011131		ORPHA:3354|http://identifiers.org/omim/601701|MESH:C537441
MONDO:0011130	sebaceous gland hyperplasia, familial presenile	biolink:Disease	mondo	GARD:0010031|MESH:C537530|UMLS:C1866428|OMIM:601700	gard_rare	sebaceous gland hyperplasia, familial presenile	http://purl.obolibrary.org/obo/MONDO_0011130		UMLS:C1866428|http://identifiers.org/omim/601700|MESH:C537530
MONDO:0013791	thrombophilia due to protein S deficiency, autosomal recessive	biolink:Disease	mondo	UMLS:C3281092|OMIM:614514		thrombophilia due to protein S deficiency, autosomal recessive|thrombophilia due to PROTEIN S deficiency, autosomal recessive; THPH6|THPH6	http://purl.obolibrary.org/obo/MONDO_0013791		http://identifiers.org/omim/614514|UMLS:C3281092
MONDO:0023100	facial clefting corpus callosum agenesis	biolink:Disease	mondo	GARD:0002220	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023100		
MONDO:0023101	facio digito genital syndrome recessive form	biolink:Disease	mondo	GARD:0002226	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023101		
NCBITaxon:37124	Chikungunya virus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_37124		
NCBITaxon:5833	Plasmodium falciparum	organism taxon	mondo	GC_ID:1		Plasmodium (Laverania) falciparum|malaria parasite P. falciparum	http://purl.obolibrary.org/obo/NCBITaxon_5833		
MONDO:0023102	facio skeletal genital syndrome rippberger type	biolink:Disease	mondo	GARD:0002227	gard_rare	Ripperger Aase syndrome	http://purl.obolibrary.org/obo/MONDO_0023102		
HP:0012531	Pain	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:22253000|UMLS:C0030193|MSH:D010146		Pain	http://purl.obolibrary.org/obo/HP_0012531	An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.	
HP:0012532	Chronic pain	biolink:PhenotypicFeature	mondo	MSH:D059350|UMLS:C0150055|SNOMEDCT_US:82423001		Chronic pain|Long-lasting pain	http://purl.obolibrary.org/obo/HP_0012532	Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months.	
HGNC:22788	FEZF1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/22788		
MONDO:0023106	Fairbank disease	biolink:Disease	mondo	MESH:C536393		epiphyseal dysplasia Fairbank type|dysplasia epiphysealis multiplex|epiphyseal dysplasia, ribbing type|Fairbank multiple epiphyseal dysplasia|epiphyseal dysplasia, Fairbank type	http://purl.obolibrary.org/obo/MONDO_0023106		MESH:C536393
HP:0012535	Abnormal synaptic transmission	biolink:PhenotypicFeature	mondo	UMLS:C4021083		Abnormality of neurotransmitter metabolism	http://purl.obolibrary.org/obo/HP_0012535	An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process.	
MONDO:0011119	iridogoniodysgenesis	biolink:Disease	mondo	Orphanet:98634|DOID:0050786	ordo_group_of_disorders	IRID	http://purl.obolibrary.org/obo/MONDO_0011119		ORPHA:98634|DOID:0050786
HP:0000568	Microphthalmia	biolink:PhenotypicFeature	mondo	Fyler:4877|MSH:D008850|SNOMEDCT_US:204108000|SNOMEDCT_US:61142002|UMLS:C0026010|UMLS:C4280808|UMLS:C4280625	hposlim_core	Decreased size of eyeball|Abnormally small globe of eye|Microphthalmos|Abnormally small eyeball|Nanophthalmos|Decreased size of globe of eye	http://purl.obolibrary.org/obo/HP_0000568	A developmental anomaly characterized by abnormal smallness of one or both eyes.	
MONDO:0011118	bilineal acute myeloid leukemia	biolink:Disease	mondo	ICD10:C95.0|UMLS:C0349680|NCIT:C6923|Orphanet:98836	ordo_disease	acute bilineal leukemia|bilineal acute leukemia	http://purl.obolibrary.org/obo/MONDO_0011118	An acute leukemia of ambiguous lineage in which there is a dual population of blasts with each population expressing markers of a distinct lineage (myeloid and lymphoid or B-and T-lymphocyte). (WHO, 2001) -- 2003	ORPHA:98836|UMLS:C0349680|NCIT:C6923
MONDO:0013785	intellectual disability, autosomal recessive 34	biolink:Disease	mondo	OMIM:614499|NCIT:C153179|UMLS:C3281044		intellectual disability, autosomal recessive type 34|mental retardation, autosomal recessive 34|mental retardation, autosomal recessive type 34|mental retardation, autosomal recessive 34, with variant lissencephaly|mental retardation, autosomal recessive 34, with variant lissencephaly; MRT34|intellectual disability, autosomal recessive 34, with variant lissencephaly|CRADD autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive 34, with variant lissencephaly; MRT34|mental retardation, autosomal recessive 34; MRT34|intellectual disability, autosomal recessive 34|MRT34|intellectual disability, autosomal recessive 34; MRT34|autosomal recessive non-syndromic intellectual disability caused by mutation in CRADD	http://purl.obolibrary.org/obo/MONDO_0013785	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRADD gene.	UMLS:C3281044|NCIT:C153179|http://identifiers.org/omim/614499
MONDO:0011122	obesity disorder	biolink:Disease	mondo	HP:0001513|ICD9:278.00|NIFSTD:nlx_dys_20090302|NCIT:C3283|EFO:0001073|DOID:9970|ICD10:E66.9|COHD:433736|UMLS:C0028754|SCTID:414916001|ICD9:278.0		leanness|obesity|obesity disease	http://purl.obolibrary.org/obo/MONDO_0011122	A disorder involving an excessive amount of body fat.	SNOMEDCT:414916001|DOID:9970|NCIT:C3283|UMLS:C0028754
MONDO:0013786	cone-rod dystrophy 16	biolink:Disease	mondo	OMIM:614500|DOID:0111022|UMLS:C3281045		CORD16|cone-rod dystrophy type 16|cone-rod dystrophy 16; CORD16|C8orf37 cone-rod dystrophy|cone-rod dystrophy caused by mutation in C8orf37|retinal dystrophy with early macular involvement|cone-rod dystrophy 16|retinitis pigmentosa 64	http://purl.obolibrary.org/obo/MONDO_0013786	Any cone-rod dystrophy in which the cause of the disease is a mutation in the C8orf37 gene.	UMLS:C3281045|http://identifiers.org/omim/614500|DOID:0111022
MONDO:0011121	paragangliomas 2	biolink:Disease	mondo	OMIM:601650|MESH:C566646|GARD:0010544	gard_rare	paragangliomas 2|paraganglioma caused by mutation in SDHAF2|SDHAF2 paraganglioma|SDHAF2-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 2)|glomus tumors, familial, 2|PGL2|paragangliomas 2; PGL2|paragangliomas type 2	http://purl.obolibrary.org/obo/MONDO_0011121	Any paraganglioma in which the cause of the disease is a mutation in the SDHAF2 gene.	http://identifiers.org/omim/601650|MESH:C566646
MONDO:0011124	spondyloepimetaphyseal dysplasia-abnormal dentition syndrome	biolink:Disease	mondo	UMLS:C1866507|OMIM:601668|MESH:C566644|Orphanet:168451|ICD10:Q77.7	ordo_disease	spondyloepimetaphyseal dysplasia with abnormal dentition; SEMDAD|spondyloepimetaphyseal dysplasia with abnormal dentition|SEMDAD	http://purl.obolibrary.org/obo/MONDO_0011124	Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.	MESH:C566644|UMLS:C1866507|ORPHA:168451|http://identifiers.org/omim/601668
MONDO:0013783	microphthalmia, isolated, with coloboma 7	biolink:Disease	mondo	OMIM:614497|UMLS:C3281027		microphthalmia, isolated, with coloboma caused by mutation in ABCB6|microphthalmia, isolated, with coloboma type 7|MCOPCB7|microphthalmia, isolated, with coloboma 7; MCOPCB7|microphthalmia, isolated, with coloboma 7|ABCB6 microphthalmia, isolated, with coloboma	http://purl.obolibrary.org/obo/MONDO_0013783	Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the ABCB6 gene.	UMLS:C3281027|http://identifiers.org/omim/614497
MONDO:0011123	type 1 diabetes mellitus 15	biolink:Disease	mondo	UMLS:C1866519|DOID:0110753|ICD10:E10|MESH:C566645|OMIM:601666		insulin-dependent diabetes mellitus 15|IDDM15|diabetes mellitus, insulin-dependent, 15; IDDM15|diabetes mellitus, insulin-dependent, 15	http://purl.obolibrary.org/obo/MONDO_0011123	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q21.	MESH:C566645|DOID:0110753|UMLS:C1866519|http://identifiers.org/omim/601666
MONDO:0013784	lethal neonatal spasticity-epileptic encephalopathy syndrome	biolink:Disease	mondo	UMLS:C3281029|ICD10:G40.4|EFO:0009144|OMIM:614498|Orphanet:435845	ordo_malformation_syndrome	rigidity and multifocal seizure syndrome, lethal neonatal; RMFSL|RMFSL|lethal neonatal rigidity-multifocal seizure syndrome|rigidity and multifocal seizure syndrome, lethal neonatal	http://purl.obolibrary.org/obo/MONDO_0013784		ORPHA:435845|UMLS:C3281029|http://identifiers.org/omim/614498
MONDO:0011126	acute insulin response	biolink:Disease	mondo	COHD:19103572|OMIM:601676		Air|acute insulin response	http://purl.obolibrary.org/obo/MONDO_0011126		http://identifiers.org/omim/601676
MONDO:0013789	DDOST-CDG	biolink:Disease	mondo	ICD10:E77.8|OMIM:614507|GARD:0012398|UMLS:C3281084|DOID:0080569|Orphanet:300536|SCTID:733083006	ordo_disease	congenital disorder of glycosylation, type Ir|congenital disorder of glycosylation type 1r|carbohydrate deficient glycoprotein syndrome type Ir|CDG-Ir|CDG syndrome type Ir|congenital disorder of glycosylation, type Ir; CDG1R|congenital disorder of glycosylation type Ir|carbohydrate deficient glycoprotein syndrome type|DDOST-CDG (CDG-Ir)|CDG1R	http://purl.obolibrary.org/obo/MONDO_0013789	(1p36.1).	DOID:0080569|UMLS:C3281084|ORPHA:300536|http://identifiers.org/omim/614507|SNOMEDCT:733083006
MONDO:0011125	trichothiodystrophy 1, photosensitive	biolink:Disease	mondo	OMIM:601675|Orphanet:670		Tay syndrome|PIBIDS syndrome|trichothiodystrophy with congenital ichthyosis|trichothiodystrophy 1, photosensitive; TTD1|trichothiodystrophy 1, photosensitive|trichothiodystrophy, photosensitive|TTD1|ichthyosiform erythroderma with hair Abnormality and mental and Growth retardation	http://purl.obolibrary.org/obo/MONDO_0011125		ORPHA:670|http://identifiers.org/omim/601675
MONDO:0013787	psychomotor retardation, epilepsy, and craniofacial dysmorphism	biolink:Disease	mondo	OMIM:614501|UMLS:C3281055		psychomotor retardation, epilepsy, and craniofacial dysmorphism; PMRED|PMRED|psychomotor retardation, epilepsy, and craniofacial dysmorphism	http://purl.obolibrary.org/obo/MONDO_0013787		UMLS:C3281055|http://identifiers.org/omim/614501
MONDO:0011128	Sheldon-hall syndrome	biolink:Disease	mondo	GARD:0009909|ICD10:Q68.8|UMLS:C1834523|DOID:0111599|Orphanet:1147	ordo_malformation_syndrome	arthrogryposis, distal, type 2B; DA2B|Sheldon-Hall syndrome|Freeman Sheldon variant|arthrogryposis multiplex congenita, distal, type II, with craniofacial abnormalities|DA2B|arthrogryposis multiplex congenita, distal, type 2B|arthrogryposis, distal, type 2B|arthrogryposis multiplex congenita distal type 2B|Freeman Sheldon syndrome, variant|distal arthrogryposis type 2B|arthrogryposis multiplex congenita distal type II with craniofacial abnormalities|Freeman-Sheldon syndrome variant	http://purl.obolibrary.org/obo/MONDO_0011128	Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.	DOID:0111599|UMLS:C1834523|ORPHA:1147
MONDO:0013788	Usher syndrome type 3B	biolink:Disease	mondo	UMLS:C3281066|DOID:0110842|OMIM:614504|ICD10:H35.5		USH3B|USHER syndrome, type IIIB|HARS Usher syndrome|Usher syndrome, type 3B|Usher syndrome type IIIB|USHER syndrome, type IIIB; USH3B|Usher syndrome caused by mutation in HARS	http://purl.obolibrary.org/obo/MONDO_0013788	Any Usher syndrome in which the cause of the disease is a mutation in the HARS gene.	UMLS:C3281066|DOID:0110842|http://identifiers.org/omim/614504
MONDO:0011127	Bartter disease type 1	biolink:Disease	mondo	GARD:0000830|Orphanet:93604|MESH:C537652|DOID:0110142|ICD10:E26.8|SCTID:700107006|OMIM:601678	ordo_clinical_subtype|gard_rare	Bartter syndrome type 1|hypokalemic alkalosis with hypercalciuria, antenatal, 1|Bartter syndrome type 1 antenatal|Bartter syndrome, furosemide type|Bartter syndrome, type 1, antenatal|hypokalemic alkalosis with hypercalciuria 1 antenatal|antenatal Bartter syndrome type 1|hypokalemic alkalosis with hypercalciuria antenatal 1|Bartter syndrome, antenatal, type 1|hyperprostaglandin E syndrome 1|hyperprostaglandin E syndrome 1|hyperprostaglandin E syndrome|hypokalemic alkalosis with hypercalciuria 1, antenatal|Bartter syndrome caused by mutation in SLC12A1|Bartter syndrome, furosemide-amiloride type|Bartter syndrome, type 1, antenatal; BARTS1|antenatal Bartter syndrome|BARTS1|SLC12A1 Bartter syndrome|Bartter syndrome antenatal type 1	http://purl.obolibrary.org/obo/MONDO_0011127	Antenatal Bartter syndrome is a phenotypic variant of Bartter syndrome presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome	MESH:C537652|DOID:0110142|SNOMEDCT:700107006|ORPHA:93604|http://identifiers.org/omim/601678
HGNC:19139	POMGNT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19139		
MONDO:0013781	pseudohypoaldosteronism type 2D	biolink:Disease	mondo	UMLS:C3469605|Orphanet:300525|ICD10:I15.1|OMIM:614495	ordo_etiological_subtype	pseudohypoaldosteronism, type IID|KLHL3 pseudohypoaldosteronism type 2|familial hyperkalemic hypertension|PHA2D|pseudohypoaldosteronism type 2 caused by mutation in KLHL3|pseudohypoaldosteronism, type IID; PHA2D|pseudohypoaldosteronism, type 2D	http://purl.obolibrary.org/obo/MONDO_0013781	Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene.	ORPHA:300525|UMLS:C3469605|http://identifiers.org/omim/614495
MONDO:0013782	pseudohypoaldosteronism type 2E	biolink:Disease	mondo	Orphanet:300530|UMLS:C3469606|ICD10:I15.1|OMIM:614496	ordo_etiological_subtype	pseudohypoaldosteronism, type IIE|PHA2E|pseudohypoaldosteronism type 2 caused by mutation in CUL3|pseudohypoaldosteronism type 2 caused by mutation in Cul3|CUL3 pseudohypoaldosteronism type 2|Cul3 pseudohypoaldosteronism type 2|pseudohypoaldosteronism, type 2E|pseudohypoaldosteronism, type IIE; PHA2E	http://purl.obolibrary.org/obo/MONDO_0013782	Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the CUL3 gene.	ORPHA:300530|UMLS:C3469606|http://identifiers.org/omim/614496
MONDO:0011120	neural tube defects, folate-sensitive	biolink:Disease	mondo	UMLS:C1866558|OMIM:601634		spina bifida, folate-sensitive|neural tube defects, folate-sensitive; NTDFS|neural tube defects, folate-sensitive|NTDFS|NTD, folate-sensitive	http://purl.obolibrary.org/obo/MONDO_0011120		UMLS:C1866558|http://identifiers.org/omim/601634
MONDO:0013780	retinitis pigmentosa 63	biolink:Disease	mondo	ICD10:H35.5|UMLS:C3281002|DOID:0110385|OMIM:614494		retinitis pigmentosa 63; RP63|retinitis pigmentosa 63|retinitis pigmentosa type 63|RP63	http://purl.obolibrary.org/obo/MONDO_0013780	A retinitis pigmentosa that has material basis in variation in the chromosome region 6q23.	http://identifiers.org/omim/614494|UMLS:C3281002|DOID:0110385
MONDO:0001785	malignant secondary hypertension	biolink:Disease	mondo	UMLS:C0155617|COHD:318437|SCTID:89242004|DOID:13731|ICD9:405.09|ICD9:405.0			http://purl.obolibrary.org/obo/MONDO_0001785		DOID:13731|UMLS:C0155617|SNOMEDCT:89242004
MONDO:0001784	malignant renovascular hypertension	biolink:Disease	mondo	DOID:13730		malignant renal artery stenosis|malignant renal hypertension	http://purl.obolibrary.org/obo/MONDO_0001784		DOID:13730
HGNC:19100	IL23R	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19100		
MONDO:0001783	endometrial stromal nodule	biolink:Disease	mondo	UMLS:C0334485|EFO:1000241|DOID:1373|SCTID:721571001|NCIT:C4262|ICDO:8930/0			http://purl.obolibrary.org/obo/MONDO_0001783	A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia.	SNOMEDCT:721571001|DOID:1373|NCIT:C4262|UMLS:C0334485
MONDO:0001782	mature cataract	biolink:Disease	mondo	ICD9:366.17|COHD:377285|SCTID:849000|DOID:13717		total, mature senile cataract|total or mature cataract	http://purl.obolibrary.org/obo/MONDO_0001782	A cataract that produces swelling and opacity of the entire lens; cataracts are removed before maturity.	DOID:13717|SNOMEDCT:849000
MONDO:0001789	neurofibroma of spinal cord	biolink:Disease	mondo	UMLS:C1336047|NCIT:C5145|DOID:13742		neurofibroma of spinal cord|spinal cord neurofibroma	http://purl.obolibrary.org/obo/MONDO_0001789	A neurofibroma that arises from the spinal cord.	DOID:13742|NCIT:C5145|UMLS:C1336047
MONDO:0001788	nutmeg liver	biolink:Disease	mondo	DOID:13739|COHD:200451|ICD9:573.0|ICD10:K76.1|SCTID:34736002|UMLS:C0156195		chronic passive congestion of liver	http://purl.obolibrary.org/obo/MONDO_0001788		SNOMEDCT:34736002|UMLS:C0156195|DOID:13739
MONDO:0001787	hepatic infarction	biolink:Disease	mondo	UMLS:C0151731|DOID:13738|ICD9:573.4|COHD:194417|ICD10:K76.3|SCTID:17890003		infarct of liver	http://purl.obolibrary.org/obo/MONDO_0001787		DOID:13738|SNOMEDCT:17890003|UMLS:C0151731
MONDO:0001786	uterine inflammatory disease	biolink:Disease	mondo	ICD10:N71.9|DOID:13736|SCTID:28783002|ICD9:615.9|COHD:196162|UMLS:C0269047		inflammatory disease of the uterus	http://purl.obolibrary.org/obo/MONDO_0001786		SNOMEDCT:28783002|DOID:13736|UMLS:C0269047
MONDO:0011108	Stüve-Wiedemann syndrome	biolink:Disease	mondo	MESH:C537502|GARD:0005045|UMLS:C0432240|UMLS:C0796176|ICD10:Q78.8|OMIM:601559|Orphanet:3206|SCTID:254097005	ordo_malformation_syndrome	Stüve-Wiedemann syndrome|Schwartz-Jampel syndrome, neonatal|Stüve-Wiedemann dysplasia|Stws|Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome|neonatal Schwartz-Jampel syndrome|Schwartz-Jampel syndrome, type 2|Stüve-Wiedemann/Schwartz-Jampel type 2 syndrome|Schwartz-Jampel syndrome type 2|Schwartz-Jampel syndrome neonatal|SJS2|STUVE-Wiedemann syndrome|neonatal Schwartz-Jampel syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0011108	Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.	ORPHA:3206|UMLS:C0796176|http://identifiers.org/omim/601559|MESH:C537502|UMLS:C0432240|SNOMEDCT:254097005
UBERON_CORE:channels_from	channels_from	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/uberon/core#channels_from		
MONDO:0011107	congenital hypotrichosis with juvenile macular dystrophy	biolink:Disease	mondo	ICD10:Q84.0|OMIM:601553|UMLS:C1832162|DOID:0110711|MESH:C537698|Orphanet:1573|GARD:0003066	ordo_malformation_syndrome	hypotrichosis with cone-rod dystrophy|hypotrichosis with cone-rod dystrophy|hypotrichosis with juvenile macular dystrophy|hypotrichosis, congenital, with juvenile macular dystrophy; HJMD|Hjmd|juvenile macular degeneration and hypotrichosis|HJMD|juvenile macular dystrophy and congenital hypotrichosis|hypotrichosis with juvenile macular degeneration|hypotrichosis, congenital, with juvenile macular dystrophy	http://purl.obolibrary.org/obo/MONDO_0011107	Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.	http://identifiers.org/omim/601553|UMLS:C1832162|ORPHA:1573|MESH:C537698|DOID:0110711
MONDO:0013769	atrioventricular septal defect 5	biolink:Disease	mondo	OMIM:614474|UMLS:C3280939		atrioventricular septal defect caused by mutation in GATA6|AVSD5|atrioventricular septal defect 5|atrioventricular septal defect type 5|atrioventricular septal defect 5; AVSD5|GATA6 atrioventricular septal defect	http://purl.obolibrary.org/obo/MONDO_0013769	Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA6 gene.	UMLS:C3280939|http://identifiers.org/omim/614474
HGNC:10768	SF3B1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10768		
NCBITaxon:5809	Sarcocystidae	organism taxon	mondo	GC_ID:1		Sarcocystids	http://purl.obolibrary.org/obo/NCBITaxon_5809		
MONDO:0011109	multiple epiphyseal dysplasia, Lowry type	biolink:Disease	mondo	UMLS:C1832112|Orphanet:166016|SCTID:768935003|OMIM:601560|ICD10:Q78.8|MESH:C563291	ordo_disease	epiphyseal dysplasia, multiple, with Robin phenotype|multiple epiphyseal dysplasia with ROBIN phenotype|multiple epiphyseal dysplasia with Robin phenotype	http://purl.obolibrary.org/obo/MONDO_0011109	Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.	ORPHA:166016|http://identifiers.org/omim/601560|SNOMEDCT:768935003|UMLS:C1832112|MESH:C563291
MONDO:0001781	uterine corpus adenomatoid tumor	biolink:Disease	mondo	UMLS:C1336902|DOID:1371|NCIT:C27250		uterine corpus localized epithelial mesothelioma|body of uterus adenomatoid tumor|uterine corpus adenomatoid tumor	http://purl.obolibrary.org/obo/MONDO_0001781	A benign mesothelial tumor of the serosal surface of the uterine body and myometrium. It is characterized by the presence of gland-like structures.	NCIT:C27250|DOID:1371|UMLS:C1336902
NCBITaxon:5806	Cryptosporidium	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_5806		
MONDO:0001780	premature ejaculation (disease)	biolink:Disease	mondo	HP:0012876|ICD10:F52.4|ICD9:302.75|NCIT:C94349|MESH:D061686|DOID:13709|COHD:434319		premature ejaculation	http://purl.obolibrary.org/obo/MONDO_0001780	A disorder characterized by persistent or recurrent ejaculation before or after penetration and before the person wishes it.	DOID:13709|MESH:D061686|NCIT:C94349
NCBITaxon:5807	Cryptosporidium parvum	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_5807		
MONDO:0013774	trigonocephaly 2	biolink:Disease	mondo	OMIM:614485		FREM1 isolated trigonocephaly|trigonocephaly 2|isolated trigonocephaly caused by mutation in FREM1|trigonocephaly 2; TRIGNO2|craniosynostosis, metopic|TRIGNO2|trigonocephaly type 2	http://purl.obolibrary.org/obo/MONDO_0013774	Any isolated trigonocephaly in which the cause of the disease is a mutation in the FREM1 gene.	http://identifiers.org/omim/614485
MONDO:0011111	horns in sheep	biolink:Disease	mondo	OMIM:601563		horns in sheep|Ho	http://purl.obolibrary.org/obo/MONDO_0011111		http://identifiers.org/omim/601563
MONDO:0011110	dyssegmental dysplasia-glaucoma syndrome	biolink:Disease	mondo	UMLS:C1832111|OMIM:601561|GARD:0002025|Orphanet:1804|MESH:C563290	gard_rare|ordo_malformation_syndrome	dyssegmental dysplasia and glaucoma|dyssegmental dysplasia with glaucoma	http://purl.obolibrary.org/obo/MONDO_0011110	This syndrome is characterised by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children.	ORPHA:1804|MESH:C563290|http://identifiers.org/omim/601561|UMLS:C1832111
MONDO:0013775	thrombomodulin-related bleeding disorder	biolink:Disease	mondo	OMIM:614486|MESH:C566057|Orphanet:436169|UMLS:C3280976|ICD10:D68.3	ordo_disease	THPH12|THBD-related bleeding disorder|thrombophilia due to thrombomodulin defect|thrombomodulin-related coagulopathy|THBD-related coagulopathy|thrombophilia due to thrombomodulin defect; THPH12	http://purl.obolibrary.org/obo/MONDO_0013775		UMLS:C3280976|http://identifiers.org/omim/614486|MESH:C566057|ORPHA:436169
MONDO:0011113	Charcot-Marie-Tooth disease type 4C	biolink:Disease	mondo	MESH:C535423|NCIT:C129864|Orphanet:99949|UMLS:C1866636|SCTID:715797002|GARD:0009201|OMIM:601596|ICD10:G60.0|DOID:0110183	ordo_disease|gard_rare	SH3TC2 Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease, type 4C|Charcot-Marie-Tooth neuropathy type 4C|Charcot-Marie-Tooth neuropathy, type 4C|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4C|autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C|CMT 4C|CMT4C|Charcot Marie Tooth disease type 4C|Charcot-Marie-Tooth disease type 4 caused by mutation in SH3TC2|Charcot-Marie-Tooth disease, type 4C; CMT4C	http://purl.obolibrary.org/obo/MONDO_0011113	Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported.	SNOMEDCT:715797002|ORPHA:99949|NCIT:C129864|DOID:0110183|MESH:C535423|UMLS:C1866636|http://identifiers.org/omim/601596
MONDO:0013772	congenital cataract-hearing loss-severe developmental delay syndrome	biolink:Disease	mondo	OMIM:614482|Orphanet:300313|UMLS:C3280965	ordo_disease	lethal neurodegenerative disorder due to copper transport defect|CCHLND|congenital cataracts, hearing loss, and neurodegeneration; CCHLND|congenital cataract-deafness-severe developmental delay syndrome|congenital cataracts, hearing loss, and neurodegeneration	http://purl.obolibrary.org/obo/MONDO_0013772		ORPHA:300313|UMLS:C3280965|http://identifiers.org/omim/614482
HGNC:10771	SF3B4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10771		
MONDO:0013773	porencephaly 2	biolink:Disease	mondo	UMLS:C3280970|OMIM:614483		COL4A2 porencephaly|porencephaly type 2|porencephaly 2|POREN2|porencephaly caused by mutation in COL4A2|porencephaly 2; POREN2	http://purl.obolibrary.org/obo/MONDO_0013773	Any porencephaly in which the cause of the disease is a mutation in the COL4A2 gene.	UMLS:C3280970|http://identifiers.org/omim/614483
MONDO:0011112	Wilms tumor 5	biolink:Disease	mondo	GARD:0005578|OMIM:601583|MESH:C536707		Wilms tumor 5|WT5|Wilms tumor 5; WT5|Wilms tumor and radial bilateral aplasia|bilateral radial aplasia with Wilms tumor|Wilms tumor, susceptibility to|Wilms tumor type 5	http://purl.obolibrary.org/obo/MONDO_0011112	Any Wilms tumor in which the cause of the disease is a mutation in the POU6F2 gene.	MESH:C536707|http://identifiers.org/omim/601583
MONDO:0013778	pseudohypoaldosteronism type 2C	biolink:Disease	mondo	Orphanet:88940|MESH:C564162|OMIM:614492|ICD10:I15.1|UMLS:C1840391	ordo_etiological_subtype	pseudohypoaldosteronism, type 2C|pseudohypoaldosteronism, type IIC|PHA2C|pseudohypoaldosteronism type 2 caused by mutation in WNK1|WNK1 pseudohypoaldosteronism type 2|pseudohypoaldosteronism, type IIC; PHA2C	http://purl.obolibrary.org/obo/MONDO_0013778	Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene.	MESH:C564162|UMLS:C1840391|http://identifiers.org/omim/614492|ORPHA:88940
MONDO:0011115	spastic paraplegia and Evans syndrome	biolink:Disease	mondo	MESH:C566652|OMIM:601608|UMLS:C1866619		spastic paraplegia and Evans syndrome	http://purl.obolibrary.org/obo/MONDO_0011115		MESH:C566652|UMLS:C1866619|http://identifiers.org/omim/601608
HP:0000532	Abnormal chorioretinal morphology	biolink:PhenotypicFeature	mondo	UMLS:C4025844		Chorioretinal abnormality	http://purl.obolibrary.org/obo/HP_0000532	An abnormality of the choroid and retina.	
MONDO:0011114	familial multiple trichoepithelioma	biolink:Disease	mondo	GARD:0010867|ICD10:D23.3|UMLS:C1275122|Orphanet:867|SCTID:403825008	ordo_clinical_subtype	Brooke-Fordyce Trichoepitheliomas|epithelioma Adenoides Cysticum of Brooke|epithelioma, hereditary multiple benign cystic|epithelioma adenoides cysticum|hereditary multiple benign cystic epithelioma|trichoepithelioma multiple familial|multiple familial trichoepithelioma	http://purl.obolibrary.org/obo/MONDO_0011114		MESH:C536552|ORPHA:867|UMLS:C1275122|SNOMEDCT:403825008
MONDO:0013779	Wiskott-Aldrich syndrome 2	biolink:Disease	mondo	UMLS:C3281001|OMIM:614493|OMIM:277970		Wiskott-Aldrich syndrome type 2|Wipf1 deficiency|WIPF1 Wiskott-Aldrich syndrome|WAS2|Wiskott-Aldrich syndrome caused by mutation in WIPF1|Wiskott-Aldrich syndrome 2|Wiskott-Aldrich syndrome 2; WAS2	http://purl.obolibrary.org/obo/MONDO_0013779	Any Wiskott-Aldrich syndrome in which the cause of the disease is a mutation in the WIPF1 gene.	UMLS:C3281001|http://identifiers.org/omim/614493|http://identifiers.org/omim/277970
HGNC:10778	SFRP4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10778		
MONDO:0013776	spastic ataxia 5	biolink:Disease	mondo	UMLS:C3280977|OMIM:614487|Orphanet:313772|ICD10:G11.4|DOID:0050944	ordo_disease	SPAX5|autosomal recessive spastic ataxia type 5|autosomal recessive spastic ataxia caused by mutation in AFG3L2|AFG3L2-related spastic ataxia-neuropathy syndrome|spastic ataxia 5, autosomal recessive|AFG3L2 autosomal recessive spastic ataxia|spastic ataxia type 5|AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome|early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome|spastic ataxia 5, autosomal recessive; SPAX5	http://purl.obolibrary.org/obo/MONDO_0013776	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated.	DOID:0050944|ORPHA:313772|UMLS:C3280977|http://identifiers.org/omim/614487
MONDO:0011117	iris pigment epithelium anomalies	biolink:Disease	mondo	MESH:C566651|UMLS:C1866608|OMIM:601616		iris pigment epithelium anomalies|ruffles and cysts of iris pigment epithelium|cysts of iris pigment epithelium	http://purl.obolibrary.org/obo/MONDO_0011117		MESH:C566651|UMLS:C1866608|http://identifiers.org/omim/601616
HP:0000534	Abnormal eyebrow morphology	biolink:PhenotypicFeature	mondo	UMLS:C4011556	hposlim_core	Abnormality of the eyebrow	http://purl.obolibrary.org/obo/HP_0000534	An abnormality of the eyebrow.	
MONDO:0011116	lung agenesis-heart defect-thumb anomalies syndrome	biolink:Disease	mondo	ICD10:Q87.8|SCTID:721976003|GARD:0003378|MESH:C535708|OMIM:601612|Orphanet:1120	ordo_malformation_syndrome|gard_rare	Mardini-Nyhan association|Manouvrier syndrome|lung agenesis, congenital heart defects, and thumb anomalies syndrome; LACHT|lung agenesis, congenital heart defects, and thumb anomalies syndrome|lung agenesis heart defect thumb anomalies|Mardini-Nyhan syndrome|pulmonary aplasia and triphalangia of the thumb|LACHT	http://purl.obolibrary.org/obo/MONDO_0011116	Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies.	ORPHA:1120|SNOMEDCT:721976003|MESH:C535708|http://identifiers.org/omim/601612
MONDO:0013777	pseudohypoaldosteronism type 2B	biolink:Disease	mondo	ICD10:I15.1|Orphanet:88939|MESH:C564161|OMIM:614491|UMLS:C1840390	ordo_etiological_subtype	pseudohypoaldosteronism, type IIB|pseudohypoaldosteronism type 2 caused by mutation in WNK4|PHA2B|WNK4 pseudohypoaldosteronism type 2|pseudohypoaldosteronism, type IIB; PHA2B|pseudohypoaldosteronism, type 2B	http://purl.obolibrary.org/obo/MONDO_0013777	Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK4 gene.	MESH:C564161|UMLS:C1840390|http://identifiers.org/omim/614491|ORPHA:88939
MONDO:0001779	vaginal squamous papilloma	biolink:Disease	mondo	NCIT:C6374|DOID:137|UMLS:C1336943		squamous papilloma of the vagina|vagina squamous papilloma|vaginal squamous papilloma|squamous papilloma of vagina	http://purl.obolibrary.org/obo/MONDO_0001779	A benign papillary neoplasm that arises from the vagina and is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium. There is no evidence of atypia or relation to human papillomavirus.	DOID:137|NCIT:C6374|UMLS:C1336943
MONDO:0013770	atrial heart septal defect 9	biolink:Disease	mondo	UMLS:C3280943|OMIM:614475|DOID:0110114|ICD10:Q21.1		atrial heart septal defect type 9|GATA6 atrial heart septal defect|atrial septal defect 9|atrial septal defect 9; ASD9|ASD9|atrial septal defect type 9|atrial heart septal defect caused by mutation in GATA6	http://purl.obolibrary.org/obo/MONDO_0013770	Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA6 gene.	DOID:0110114|UMLS:C3280943|http://identifiers.org/omim/614475
MONDO:0013771	transient infantile hypertriglyceridemia and hepatosteatosis	biolink:Disease	mondo	Orphanet:300293|OMIM:614480|UMLS:C3280953	ordo_disease	HTGTI|hypertriglyceridemia, transient infantile|hypertriglyceridemia, transient infantile; HTGTI|transient infantile hypertriglyceridemia and fatty liver	http://purl.obolibrary.org/obo/MONDO_0013771		ORPHA:300293|UMLS:C3280953|http://identifiers.org/omim/614480
HGNC:19104	NPHP4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19104		
HGNC:19102	DDX58	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19102		
MONDO:0001796	obsolete epidermodysplasia verruciformis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0001796		
MONDO:0001795	plantar wart	biolink:Disease	mondo	EFO:1002023|COHD:137785|SCTID:63440008|DOID:13775|NCIT:C26913|UMLS:C0042548|ICD10:B07.0|ICD9:078.12		plantar wart|verruca plantaris	http://purl.obolibrary.org/obo/MONDO_0001795	A wart in the plantar surface of the foot. It is caused by human papillomavirus.	DOID:13775|NCIT:C26913|SNOMEDCT:63440008|UMLS:C0042548
MONDO:0001794	Pthirus pubis infestation	biolink:Disease	mondo	SCTID:71011005|UMLS:C0030759|ICD10:B85.3|DOID:13760|ICD9:132.2|NCIT:C35777		infections, Pthirus pubis|Pediculus pubis|phthiriasis pubis|Pthirus pubis infection|crabs|Phthirus pubis [pubic louse]|infestation by Phthirus pubis|Phthirus/pediculus pubis - pubic lice - crabs|phthiriasis|Phthirus/pediculus pubis - pubic lice - crabs (& infestation)|Phthirus pubis|pediculosis pubis	http://purl.obolibrary.org/obo/MONDO_0001794	Infestation of the pubic hair by the pthirus pubis parasite which results in mild to intense itching and macular lesions. The parasite, also known as crab lice, is transmitted through skin to skin contact with an infected person or through direct contact with infested objects.	SNOMEDCT:71011005|DOID:13760|NCIT:C35777|UMLS:C0030759
NCBITaxon:5811	Toxoplasma gondii	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_5811		
MONDO:0001793	excessive tearing	biolink:Disease	mondo	UMLS:C0152227|ICD10:H04.2|DOID:13757|ICD9:375.2|ICD9:375.20|COHD:435553|MESH:D007766|SCTID:193982009|ICD10:H04.20		lacrimal apparatus disease|diseases, lacrimal apparatus|epiphora|watering eye|excessive tear production|apparatus diseases, lacrimal|disease, lacrimal apparatus|apparatus disease, lacrimal	http://purl.obolibrary.org/obo/MONDO_0001793	Diseases of the lacrimal apparatus.	MESH:D007766|DOID:13757|UMLS:C0152227|SNOMEDCT:193982009|NCIT:C50552
MONDO:0001799	localized anterior staphyloma	biolink:Disease	mondo	UMLS:C0155362|ICD10:H15.82|ICD9:379.14|SCTID:21946002|DOID:13787		anterior staphyloma, localized	http://purl.obolibrary.org/obo/MONDO_0001799		DOID:13787|UMLS:C0155362|SNOMEDCT:21946002
NCBITaxon:5810	Toxoplasma	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_5810		
MONDO:0001798	hypermobility syndrome	biolink:Disease	mondo	SCTID:85551004|ICD10:M35.7|UMLS:C0152093|COHD:76790|ICD9:728.5|DOID:13781		benign joint hypermobility	http://purl.obolibrary.org/obo/MONDO_0001798		DOID:13781|UMLS:C0152093|SNOMEDCT:85551004
HGNC:20105	FLVCR2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20105		
MONDO:0001797	chancroid	biolink:Disease	mondo	ICD10:A57|SCTID:266143009|DOID:13778|COHD:138973|ICD9:099.0|UMLS:C0007947|MESH:D002602|GARD:0009522	gard_rare	Ulcus molle, skin|Chancroids	http://purl.obolibrary.org/obo/MONDO_0001797	Chancroid is a bacterial infection that is spread through sexual contact. It is caused by a type of bacteria called Haemophilus ducreyi. Chancroid is characterized by a small bump on the genital which becomes a painful ulcer. Men may have just one ulcer, but women often develop four or more.About half of the people who are infected with a chancroid will develop enlarged inguinal lymph nodes, the nodes located in the fold between the leg and the lower abdomen. In some cases, the nodes will break through the skin and cause draining abscesses. The swollen lymph nodes and abscesses are often called buboes. Chancroid infections can be treated with antibiotics, including azithromycin, ceftriaxone, ciprofloxacin, and erythromycin. Large lymph node swellings need to be drained, either with a needle or local surgery.	SNOMEDCT:266143009|UMLS:C0007947|DOID:13778|MESH:D002602
HP:0000546	Retinal degeneration	biolink:PhenotypicFeature	mondo	MSH:D012162|SNOMEDCT_US:95695004|UMLS:C0035304	hposlim_core	Retina degeneration	http://purl.obolibrary.org/obo/HP_0000546	A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.	
MONDO:0013758	Charcot-Marie-Tooth disease dominant intermediate E	biolink:Disease	mondo	ICD10:G60.0|Orphanet:93114|OMIM:614455|UMLS:C3280845|SCTID:722294004|DOID:0110205|UMLS:C4302667|GARD:0012011	ordo_disease	CMTDIE|Charcot-Marie-Tooth disease dominant intermediate type E|Charcot-Marie-Tooth disease, dominant Intermediate type E|Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis|autosomal dominant intermediate Charcot-Marie-Tooth disease type E|Charcot-Marie-Tooth disease, dominant intermediate E; CMTDIE|Charcot-Marie-Tooth disease, dominant intermediate E|Charcot-Marie-Tooth disease - nephropathy|Charcot-Marie-Tooth disease-nephropathy syndrome	http://purl.obolibrary.org/obo/MONDO_0013758	Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterised by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown.	http://identifiers.org/omim/614455|DOID:0110205|UMLS:C4302667|SNOMEDCT:722294004|ORPHA:93114|UMLS:C3280845
HP:0000549	Abnormal conjugate eye movement	biolink:PhenotypicFeature	mondo	UMLS:C1845274		Disconjugate eye movements	http://purl.obolibrary.org/obo/HP_0000549	Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object.	
NCBITaxon:5819	Haemosporida	organism taxon	mondo	GC_ID:1		Haemosporina|Haemospororida|haemosporidians	http://purl.obolibrary.org/obo/NCBITaxon_5819		
MONDO:0013759	MITF-related melanoma and renal cell carcinoma predisposition syndrome	biolink:Disease	mondo	Orphanet:293822|OMIM:614456	predisposition|ordo_disease	melanoma and renal cell carcinoma, susceptibility to|melanoma, cutaneous malignant, susceptibility to, type 8|susceptibility to cutaneous malignant melanoma 8|melanoma, cutaneous malignant, susceptibility to, 8; CMM8|melanoma, cutaneous malignant, susceptibility to, 8|CMM8	http://purl.obolibrary.org/obo/MONDO_0013759	MITF-related melanoma and renal cell carcinoma predisposition syndrome is an inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.	http://identifiers.org/omim/614456|ORPHA:293822
MONDO:0001792	epiphora due to insufficient drainage	biolink:Disease	mondo	ICD9:375.22|DOID:13756|UMLS:C0155234|SCTID:85042000|COHD:438156|ICD10:H04.22			http://purl.obolibrary.org/obo/MONDO_0001792		UMLS:C0155234|DOID:13756|SNOMEDCT:85042000
MONDO:0001791	neonatal urinary tract infectious disease	biolink:Disease	mondo	ICD10:P39.3|ICD9:771.82|SCTID:12301009|DOID:1375|UMLS:C0235815		urinary tract infection of newborn	http://purl.obolibrary.org/obo/MONDO_0001791		UMLS:C0235815|DOID:1375|SNOMEDCT:12301009
MONDO:0001790	spinal cord lipoma	biolink:Disease	mondo	SCTID:189017000|DOID:13743|NCIT:C4619|UMLS:C0347446|ICD9:214.8		lipoma of spinal cord|spinal cord lipoma	http://purl.obolibrary.org/obo/MONDO_0001790	A benign adipose tissue neoplasm of the spinal cord. It is usually associated with dysraphism in which the intraspinal component communicates with a subcutaneous lipoma through a defect in the posterior elements of the spine. Non-dysraphic intramedullary spinal cord lipomas are very rare.	DOID:13743|SNOMEDCT:189017000|UMLS:C0347446|NCIT:C4619
MONDO:0011100	microcephaly, retinitis pigmentosa, and sutural cataract	biolink:Disease	mondo	UMLS:C1832214|MESH:C563296|OMIM:601537		microcephaly, retinitis pigmentosa, and sutural cataract	http://purl.obolibrary.org/obo/MONDO_0011100		MESH:C563296|http://identifiers.org/omim/601537|UMLS:C1832214
MONDO:0013763	Joubert syndrome 15	biolink:Disease	mondo	UMLS:C3280897|DOID:0110984|OMIM:614464		Joubert syndrome 12/15, digenic|Joubert syndrome caused by mutation in CEP41|Joubert syndrome 9/15, digenic|CEP41 Joubert syndrome|JBTS15|Joubert syndrome type 15|Joubert syndrome 15; JBTS15|Joubert syndrome 15	http://purl.obolibrary.org/obo/MONDO_0013763	Any Joubert syndrome in which the cause of the disease is a mutation in the CEP41 gene.	DOID:0110984|UMLS:C3280897|http://identifiers.org/omim/614464
MONDO:0013764	Joubert syndrome 16	biolink:Disease	mondo	OMIM:614465|DOID:0110985|UMLS:C3280906		JBTS16|Joubert syndrome caused by mutation in TMEM138|Joubert syndrome type 16|Joubert syndrome 16; JBTS16|TMEM138 Joubert syndrome|Joubert syndrome 16	http://purl.obolibrary.org/obo/MONDO_0013764	Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM138 gene.	DOID:0110985|UMLS:C3280906|http://identifiers.org/omim/614465
MONDO:0011102	autosomal dominant nonsyndromic deafness 12	biolink:Disease	mondo	UMLS:C1832187|OMIM:601543|MESH:C563295|DOID:0110544|ICD10:H90.3		autosomal dominant deafness 8|TECTA autosomal dominant nonsyndromic deafness|tecta autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 12; DFNA12|deafness, autosomal dominant 12|DFNA8|deafness, autosomal dominant type 12|DFNA12|autosomal dominant deafness 12|autosomal dominant nonsyndromic deafness type 12|autosomal dominant nonsyndromic deafness caused by mutation in TECTA|autosomal dominant nonsyndromic deafness caused by mutation in tecta|deafness, autosomal dominant 8	http://purl.obolibrary.org/obo/MONDO_0011102	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene.	DOID:0110544|MESH:C563295|http://identifiers.org/omim/601543|UMLS:C1832187
MONDO:0013761	childhood encephalopathy due to thiamine pyrophosphokinase deficiency	biolink:Disease	mondo	UMLS:C3280866|OMIM:614458|Orphanet:293955	ordo_disease	encephalopathy, episodic, due to thiamine pyrophosphokinase deficiency|thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type); THMD5|thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)|THMD5	http://purl.obolibrary.org/obo/MONDO_0013761		ORPHA:293955|UMLS:C3280866|http://identifiers.org/omim/614458
MONDO:0013762	lipoic acid synthetase deficiency	biolink:Disease	mondo	UMLS:C3280887|OMIM:614462|ICD10:E88.8|Orphanet:401859|GARD:0012678	ordo_disease|gard_rare	pyruvate dehydrogenase lipoic acid synthetase deficiency|hyperglycinemia, lactic acidosis, and seizures|hyperglycinemia, lactic acidosis, and seizures; HGCLAS|HGCLAS|PDHLD|pyruvate dehydrogenase lipoic acid synthetase deficiency; PDHLD	http://purl.obolibrary.org/obo/MONDO_0013762	Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person.	UMLS:C3280887|http://identifiers.org/omim/614462|ORPHA:401859
MONDO:0011101	peroxisome biogenesis disorder 1B	biolink:Disease	mondo	UMLS:CN168921|OMIM:601539		adrenoleukodystrophy, autosomal neonatal|PBD1B|peroxisome biogenesis disorder 1B|peroxisome biogenesis disorder type 1B|infantile phytanic acid storage disease|peroxisome biogenesis disorder 1B; PBD1B|Refsum disease, infantile|peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile Refsum disease)|peroxisome biogenesis disorder (NALD/Ird)	http://purl.obolibrary.org/obo/MONDO_0011101		UMLS:CN168921|http://identifiers.org/omim/601539
MONDO:0011104	cataract 3 multiple types	biolink:Disease	mondo	ICD10:Q12.0|OMIM:601547|UMLS:C1832175|DOID:0110269|MESH:C563294		cataract 3, multiple types, with or without microcornea|congenital cerulean type cataract 2|CCA2|cataract (disease) caused by mutation in CRYBB2|cataract 3, multiple types|cataract, congenital, cerulean type, 2|CRYBB2 cataract (disease)|cataract 3 multiple types with or without microcornea|CTRCT3|cataract 3, multiple types; CTRCT3	http://purl.obolibrary.org/obo/MONDO_0011104	Any cataract (disease) in which the cause of the disease is a mutation in the CRYBB2 gene.	UMLS:C1832175|DOID:0110269|MESH:C563294|http://identifiers.org/omim/601547
MONDO:0013767	autoimmune lymphoproliferative syndrome type 4	biolink:Disease	mondo	ICD10:D72.8|DOID:0110117|SCTID:723508002|OMIM:614470|UMLS:C2674723|Orphanet:268114	ordo_disease	autoimmune lymphoproliferative syndrome type 4|ALPS4|RAS-associated autoimmune leukoproliferative disorder|autoimmune lymphoproliferative syndrome, type 4|NRAS autoimmune lymphoproliferative syndrome|ALPS type IV|ALPS type 4|RALD|autoimmune lymphoproliferative syndrome type IV|RAS-associated autoimmune leukoproliferative disease|autoimmune lymphoproliferative syndrome caused by mutation in NRAS|RAS-associated autoimmune leukoproliferative disorder; RALD	http://purl.obolibrary.org/obo/MONDO_0013767	RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.	ORPHA:268114|DOID:0110117|UMLS:C2674723|SNOMEDCT:723508002|http://identifiers.org/omim/614470
MONDO:0011103	autosomal dominant nonsyndromic deafness 3A	biolink:Disease	mondo	OMIM:601544|MESH:C567277|GARD:0009933|DOID:0110564|UMLS:C2675750|ICD10:H90.3		NSRD1|autosomal dominant nonsyndromic deafness type 3A|autosomal dominant nonsyndromic deafness caused by mutation in GJB2|deafness, autosomal dominant 3A|deafness, autosomal dominant type 3A|deafness, autosomal dominant nonsyndromic sensorineural 3|deafness, autosomal dominant 3A; DFNA3A|GJB2 autosomal dominant nonsyndromic deafness|autosomal dominant deafness 3A|neurosensory nonsyndromic dominant deafness 1|DFNA3|DFNA3A	http://purl.obolibrary.org/obo/MONDO_0011103	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB2 gene.	MESH:C567277|UMLS:C2675750|DOID:0110564|http://identifiers.org/omim/601544
MONDO:0013768	arterial calcification, generalized, of infancy, 2	biolink:Disease	mondo	UMLS:C3276161|OMIM:614473		GACI2|arterial calcification, generalized, of infancy, 2; GACI2|ABCC6 arterial calcification of infancy|arterial calcification, generalized, of infancy, type 2|arterial calcification of infancy caused by mutation in ABCC6|arterial calcification, generalized, of infancy, 2	http://purl.obolibrary.org/obo/MONDO_0013768	Any arterial calcification of infancy in which the cause of the disease is a mutation in the ABCC6 gene.	UMLS:C3276161|http://identifiers.org/omim/614473
MONDO:0011106	facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome	biolink:Disease	mondo	Orphanet:412022|OMIM:601552|UMLS:C1832167|ICD10:Q87.0|MESH:C563293	ordo_malformation_syndrome	Traboulsi syndrome|FDLAB|ectopia lentis, spontaneous filtering blebs, and craniofacial Dysmorphism|facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome|facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs|facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs; FDLAB|FDLAB syndrome	http://purl.obolibrary.org/obo/MONDO_0011106	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs.	http://identifiers.org/omim/601552|ORPHA:412022|UMLS:C1832167|MESH:C563293
MONDO:0013765	coronary heart disease, susceptibility to, 6	biolink:Disease	mondo	OMIM:614466	predisposition	MMP3 coronary artery disease|coronary heart disease, susceptibility to, type 6|coronary heart disease, susceptibility to, 6; CHDS6|coronary artery disease caused by mutation in MMP3|CHDS6|susceptibility to coronary heart disease 6|coronary heart disease, susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0013765	Any coronary artery disease in which the cause of the disease is a mutation in the MMP3 gene.	http://identifiers.org/omim/614466
MONDO:0011105	alacrima, congenital, autosomal recessive	biolink:Disease	mondo	UMLS:C4012597|OMIM:601549		alacrima, congenital, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0011105		http://identifiers.org/omim/601549|UMLS:C4012597
MONDO:0013766	familial cold autoinflammatory syndrome 3	biolink:Disease	mondo	Orphanet:300359|UMLS:C3280914|DOID:0090064|ICD10:L50.2|OMIM:614468	ordo_disease	familial cold autoinflammatory syndrome type 3|FACU|antibody deficiency and immune dysregulation, PLCG2-associated|FCAS3|plaid|familial cold autoinflammatory syndrome 3; FCAS3|familial cold urticaria with common variable immunodeficiency|PLCG2 familial cold autoinflammatory syndrome|familial atypical cold urticaria|familial cold autoinflammatory syndrome caused by mutation in PLCG2|familial cold autoinflammatory syndrome 3|PLCG2-associated antibody deficiency and immune dysregulation	http://purl.obolibrary.org/obo/MONDO_0013766	PLCG2-associated antibody deficiency and immune dysregulation is a rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.	DOID:0090064|ORPHA:300359|UMLS:C3280914|http://identifiers.org/omim/614468
MONDO:0013760	congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome	biolink:Disease	mondo	Orphanet:352333|UMLS:C3280856|OMIM:614457|ICD10:Q80.8	ordo_disease	ichthyosis, spastic quadriplegia, and intellectual disability; ISQMR|ichthyosis, spastic quadriplegia, and mental retardation; ISQMR|congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome|ichthyosis, spastic quadriplegia, and intellectual disability|ISQMR|ichthyosis, spastic quadriplegia, and mental retardation	http://purl.obolibrary.org/obo/MONDO_0013760		UMLS:C3280856|ORPHA:352333|http://identifiers.org/omim/614457
NCBITaxon:37104	Trichomonadida	organism taxon	mondo	GC_ID:1|PMID:20093080		trichomonads|trichomonads	http://purl.obolibrary.org/obo/NCBITaxon_37104		
CHEBI:30768	propionic acid	biolink:ChemicalSubstance	mondo			propioic acid|ethanecarboxylic acid|propanoic acid|metacetonic acid|propoic acid|Propionsaeure|acide propionique|CH3-CH2-COOH|Propanoic acid|PROPANOIC ACID|pseudoacetic acid|Propionic acid|ethylformic acid|methylacetic acid|propionic acid|PA|carboxyethane|acide propanoique	http://purl.obolibrary.org/obo/CHEBI_30768	A short-chain saturated fatty acid comprising ethane attached to the carbon of a carboxy group.	
NCBITaxon:5864	Babesia	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_5864		
NCBITaxon:5863	Piroplasmida	organism taxon	mondo	GC_ID:1		Piroplasmids	http://purl.obolibrary.org/obo/NCBITaxon_5863		
CL:0000646	basal cell	biolink:Cell	mondo	BTO:0000939|FMA:62516			http://purl.obolibrary.org/obo/CL_0000646	Undifferentiated; mitotic stem cell for other epithelial cell types; rounded or elliptical with little cytoplasm and few organelles; contain cytokeratin intermediate filament.	
GO:1904315	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	biolink:OntologyClass	mondo			ionotropic neurotransmitter receptor activity involved in regulation of post-synaptic membrane potential|ionotropic neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential	http://purl.obolibrary.org/obo/GO_1904315	Any transmitter-gated ion channel activity that is involved in regulation of postsynaptic membrane potential.	
UBERON:0010543	acropodial skeleton	biolink:AnatomicalEntity	mondo			phalangeal skeleton|acropodial skeleton|set of phalanges|skeletal parts of acropodium|skeleton of digits|acropodium|skeletal parts of acropodial region|digits skeleton|acropodium skeleton|digital skeleton	http://purl.obolibrary.org/obo/UBERON_0010543	The subdivision of the skeleton that consists of all the skeletal elements at the distalmost end of the autopodium - i.e. the bones of the digits or their cartilaginous precursors[VSAO,modified].	
UBERON:0010540	tarsus pre-cartilage condensation	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010540	A pre-cartilage condensation that has the potential to develop into a tarsal bone.	
UBERON:0010541	tarsus cartilage element	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010541	A cartilaginous condensation that has the potential to develop into a tarsal bone.	
UBERON:0010535	primitive metanephric nephron	biolink:AnatomicalEntity	mondo			primitive metanephric nephron|developing metanephric nephron|primitive nephron	http://purl.obolibrary.org/obo/UBERON_0010535	A primitive nephron that is part of a metanephros.	
NCBITaxon:171549	Bacteroidales	organism taxon	mondo	PMID:28905708|GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_171549		
UBERON:0010536	nephron progenitor	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010536		
UBERON:0009559	metacarpal/tarsal-phalangeal joint	biolink:AnatomicalEntity	mondo			metapodium-phalanx joint|metacarpo-tarsophalangeal joint|fetlock|metapodial-phalangeal joint	http://purl.obolibrary.org/obo/UBERON_0009559	A skeletal joint that connects a mesopodium bone and connects a proximal phalanx.	
UBERON:0010533	metanephros cortex	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010533	The metanephric cortex is the outer region of the metanephros[GO].	
UBERON:0010534	primitive mesonephric nephron	biolink:AnatomicalEntity	mondo			primitive mesonephric nephron|developing mesonephric nephron	http://purl.obolibrary.org/obo/UBERON_0010534	Anatomical cluster which give rise to mature mesonephric nephrons. Zebrafish continously generate new mesonephric nephrons.	
UBERON:0010537	mesonephric nephron progenitor	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010537	Cluster of cells comprising a portion of tissue which gives rise to new mesonephric nephrons. The cluster contains self-renewing stem cells.	
UBERON:0010538	paired limb/fin segment	biolink:AnatomicalEntity	mondo			limb/fin segment	http://purl.obolibrary.org/obo/UBERON_0010538	An appendage segment that is part of a limb/fin.	
CHEBI:30762	salicylate	biolink:ChemicalSubstance	mondo			2-hydroxybenzoic acid ion(1-)|o-hydroxybenzoate|sal|2-hydroxybenzoate|salicylate|Salicylate	http://purl.obolibrary.org/obo/CHEBI_30762	A monohydroxybenzoate that is the conjugate base of salicylic acid.	
UBERON:0009550	endoderm of foregut-midgut junction	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009550	An endoderm that is part of a foregut-midgut junction.	
UBERON:0009551	distal segment of digit	biolink:AnatomicalEntity	mondo			distal digit segment|tip of digit|digit tip	http://purl.obolibrary.org/obo/UBERON_0009551	A segment of a digit containing the distal phalanx, and overlapping the distal interphalangeal joint[CJM]. The digit tip is derived from multiple and distinct embryonic origins, and includes the distal bone with associated marrow cavity and haematopoietic cells, ventral (flexor) and dorsal (extensor) tendons, sweat glands with myoepithelial and luminal secreting cells and associated neurons for innervation, dermis with resident melanocytes and dendritic cells, mesenchyme with resident fibroblasts, skin epidermis with hair follicles, a nail organ composed of six specific parts (the root, nail bed, nail plate, eponychium (cuticle), perionychium and hyponychium).	
UBERON:0009552	distal segment of manual digit	biolink:AnatomicalEntity	mondo			finger tip|fingertip|finger digit tip|tip of finger|finger distal segment|forelimb digit tip	http://purl.obolibrary.org/obo/UBERON_0009552	A segment of the manual digit containing the distal phalanx	
UBERON:0009553	distal segment of pedal digit	biolink:AnatomicalEntity	mondo			P3 segment of pedal digit|toe digit tip|hindlimb digit tip|distalmost part of toe|toe distal segment|tip of toe	http://purl.obolibrary.org/obo/UBERON_0009553	A segment of the pedal digit containing the distal phalanx. Note this class represents a digit segment and thus includes tissues in addition to bone.	
CHEBI:17781	lumichrome	biolink:ChemicalSubstance	mondo			7,8-Dimethylalloxazine|LUMICHROME|Lumichrome|lumichrome|7,8-dimethylbenzo[g]pteridine-2,4(1H,3H)-dione	http://purl.obolibrary.org/obo/CHEBI_17781	A compound showing blue fluorescence, formed by a photolysis of riboflavin in acid or neutral solution.	
GO:0003842	1-pyrroline-5-carboxylate dehydrogenase activity	biolink:OntologyClass	mondo			1-pyrroline dehydrogenase|L-pyrroline-5-carboxylate-NAD+ oxidoreductase activity|delta1-pyrroline-5-carboxylate dehydrogenase activity|pyrroline-5-carboxylate dehydrogenase activity|pyrroline-5-carboxylic acid dehydrogenase activity|1-pyrroline-5-carboxylate:NAD+ oxidoreductase activity	http://purl.obolibrary.org/obo/GO_0003842	Catalysis of the reaction: 1-pyrroline-5-carboxylate + NAD+ + H2O = L-glutamate + NADH + H(+).	
GO:0003845	11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity	biolink:OntologyClass	mondo			corticosteroid 11-reductase|11beta-hydroxysteroid dehydrogenase|dehydrogenase, 11beta-hydroxy steroid|beta-hydroxysteroid dehydrogenase|11beta-hydroxy steroid dehydrogenase|corticosteroid 11beta-dehydrogenase	http://purl.obolibrary.org/obo/GO_0003845	Catalysis of the reaction: an 11-beta-hydroxysteroid + NAD(P)+ = an 11-oxosteroid + NAD(P)H + H(+).	
NCBITaxon:5878	Ciliophora	organism taxon	mondo	GC_ID:6		ciliates|ciliates|Ciliata	http://purl.obolibrary.org/obo/NCBITaxon_5878		
NCBITaxon:5873	Theileria	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_5873		
NCBITaxon:37162	Mycobacterium avium complex sp.	organism taxon	mondo	GC_ID:11		Mycobacterium avium complex bacterium	http://purl.obolibrary.org/obo/NCBITaxon_37162		
CL:0000656	primary spermatocyte	biolink:Cell	mondo	CALOHA:TS-2194|BTO:0001115|FMA:72292			http://purl.obolibrary.org/obo/CL_0000656	A diploid cell that has derived from a spermatogonium and can subsequently begin meiosis and divide into two haploid secondary spermatocytes.	
HGNC:7849	NME1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7849		
CL:0000657	secondary spermatocyte	biolink:Cell	mondo	CALOHA:TS-2195|BTO:0000709|FMA:72293|FBbt:00004941			http://purl.obolibrary.org/obo/CL_0000657	One of the two haploid cells into which a primary spermatocyte divides, and which in turn gives origin to spermatids.	
UBERON:0010531	metanephros induced blastemal cells	biolink:AnatomicalEntity	mondo			peripheral blastema|cap mesenchyme of metanephros of urinary system|induced blastemal cells|nephrogenic interstitium|nephrogenic interstitium of nephrogenic zone	http://purl.obolibrary.org/obo/UBERON_0010531	.	
UBERON:0010532	primitive nephron	biolink:AnatomicalEntity	mondo			presumptive nephron|primitive nephron|developing nephron|future nephron	http://purl.obolibrary.org/obo/UBERON_0010532	An epithelial tube that is fated to become a nephron.	
GO:0062125	regulation of mitochondrial gene expression	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0062125	Any process that modulates the frequency, rate or extent of mitochondrial gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA).	
UBERON:0009548	hepatic sinusoid of left of lobe of liver	biolink:AnatomicalEntity	mondo			left lobe hepatic sinusoids	http://purl.obolibrary.org/obo/UBERON_0009548	A hepatic sinusoid that is part of a left lobe of liver.	
UBERON:0010522	replacement element	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010522	Skeletal element that forms as a replacement or substitution of another element or tissue.	
UBERON:0009549	hepatic sinusoid of right of lobe of liver	biolink:AnatomicalEntity	mondo			right lobe hepatic sinusoids	http://purl.obolibrary.org/obo/UBERON_0009549	A hepatic sinusoid that is part of a right lobe of liver.	
UBERON:0010523	microcirculatory vessel	biolink:AnatomicalEntity	mondo			microcirculatory vessels	http://purl.obolibrary.org/obo/UBERON_0010523	A vessel of the microcirculature, lying between the arterioles and venules; includes capillaries (blood and lymphatic), metarterioles and arteriovenous anastomoses.	
UBERON:0010528	pneumatic cavity of bone	biolink:AnatomicalEntity	mondo			air space of bone	http://purl.obolibrary.org/obo/UBERON_0010528		
HGNC:7856	NQO2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7856		
UBERON:0010527	cavity of bone organ	biolink:AnatomicalEntity	mondo			bone organ cavity	http://purl.obolibrary.org/obo/UBERON_0010527	An organ cavity that surrounded_by a bone.	
GO:0003810	protein-glutamine gamma-glutamyltransferase activity	biolink:OntologyClass	mondo			polyamine transglutaminase activity|factor XIIIa|protein-glutamine:amine gamma-glutamyltransferase|R-glutaminyl-peptide:amine gamma-glutamyl transferase activity|transglutaminase activity|tissue transglutaminase|fibrin stabilizing factor|glutaminylpeptide gamma-glutamyltransferase activity|TGase activity|fibrinoligase activity	http://purl.obolibrary.org/obo/GO_0003810	Catalysis of the reaction: protein glutamine + alkylamine = protein N5-alkylglutamine + NH3. This reaction is the formation of the N6-(L-isoglutamyl)-L-lysine isopeptide, resulting in cross-linking polypeptide chains; the gamma-carboxamide groups of peptidyl-glutamine residues act as acyl donors, and the 6-amino-groups of peptidyl-lysine residues act as acceptors, to give intra- and intermolecular N6-(5-glutamyl)lysine cross-links.	
CHEBI:30746	benzoic acid	biolink:ChemicalSubstance	mondo			Benzenecarboxylic acid|E210|Phenylformic acid|Benzenemethanoic acid|Benzoic acid|BENZOIC ACID|benzoic acid|Benzoesaeure|Phenylcarboxylic acid|Aromatic carboxylic acid|Benzeneformic acid|Dracylic acid|acide benzoique	http://purl.obolibrary.org/obo/CHEBI_30746	A compound comprising a benzene ring core carrying a carboxylic acid substituent.	
CHEBI:30742	ethylene glycol	biolink:ChemicalSubstance	mondo			Glycol|ethane-1,2-diol|Monoethylene glycol|1,2-ETHANEDIOL|1,2-Ethanediol|1,2-Dihydroxyethane|Ethylene glycol|ethylene glycol|Ethanediol|HO-CH2-CH2-OH|2-Hydroxyethanol	http://purl.obolibrary.org/obo/CHEBI_30742	A 1,2-glycol compound produced via reaction of ethylene oxide with water.	
CL:0000622	acinar cell	biolink:Cell	mondo	FMA:83625		acinous cell|acinic cell	http://purl.obolibrary.org/obo/CL_0000622	A secretory cell that is grouped together with other cells of the same type to form grape shaped clusters known as acini (singular acinus).	
CL:0000623	natural killer cell	biolink:Cell	mondo	FMA:83601|BTO:0004716|FMA:63147|VHOG:0001697|CALOHA:TS-0664|BTO:0000914		large granular lymphocyte|NK cell|null cell	http://purl.obolibrary.org/obo/CL_0000623	A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells.	
HGNC:10727	SEMA3E	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10727		
CL:0000624	CD4-positive, alpha-beta T cell	biolink:Cell	mondo			CD4-positive, alpha-beta T-cell|CD4-positive, alpha-beta T lymphocyte|CD4-positive, alpha-beta T-lymphocyte	http://purl.obolibrary.org/obo/CL_0000624	A mature alpha-beta T cell that expresses an alpha-beta T cell receptor and the CD4 coreceptor.	
CL:0000625	CD8-positive, alpha-beta T cell	biolink:Cell	mondo			CD8-positive, alpha-beta T-cell|CD8-positive, alpha-beta T lymphocyte|CD8-positive, alpha-beta T-lymphocyte	http://purl.obolibrary.org/obo/CL_0000625	A T cell expressing an alpha-beta T cell receptor and the CD8 coreceptor.	
HGNC:10729	SEMA4A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10729		
HGNC:5201	HS6ST1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5201		
UBERON:0009536	vascular element of left lung	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009536	A vascular plexus that is part of a left lung.	
HGNC:7863	NNT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7863		
UBERON:0009537	vascular element of right lung	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009537	A vascular plexus that is part of a right lung.	
HGNC:7866	NOG	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7866		
HGNC:7865	NODAL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7865		
UBERON:0009538	mesenchyme of sublingual gland primordium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009538	Mesenchyme that is part of a sublingual gland primordium.	
UBERON:0009539	mesenchyme of submandibular gland primordium	biolink:AnatomicalEntity	mondo			submaxillary gland primordium mesenchyme	http://purl.obolibrary.org/obo/UBERON_0009539	Mesenchyme that is part of a submandibular gland primordium.	
HGNC:7869	NOL3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7869		
HGNC:5208	HSD11B1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5208		
UBERON:2005260	fenestrated capillary	biolink:AnatomicalEntity	mondo			fenestrated capillary vessel|fenestrated blood vessel endothelium	http://purl.obolibrary.org/obo/UBERON_2005260	Capillary that has pores in the endothelial cells (60-80 nm in diameter) that are spanned by a diaphragm of radially oriented fibrils and allow small molecules and limited amounts of protein to diffuse	
NCBITaxon:5855	Plasmodium vivax	organism taxon	mondo	GC_ID:1		malaria parasite P. vivax|Haemamoeba vivax	http://purl.obolibrary.org/obo/NCBITaxon_5855		
HGNC:5209	HSD11B2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5209		
CL:0000637	chromophil cell of anterior pituitary gland	biolink:Cell	mondo	FMA:83089			http://purl.obolibrary.org/obo/CL_0000637	A cell that stains readily in the anterior pituitary gland.	
GO:0015804	neutral amino acid transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0015804	The directed movement of neutral amino acids, amino acids with no net charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
CL:0000638	acidophil cell of pars distalis of adenohypophysis	biolink:Cell	mondo	FMA:83093		acidophil cell of pars anterior of adenohypophysis|acidophil of pars anterior of adenohypophysis|acidophil of pars distalis of adenohypophysis|pituitary alpha cell	http://purl.obolibrary.org/obo/CL_0000638	An acidophilic chromophil cell that of the anterior pituitary gland.	
HGNC:5212	HSD17B3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5212		
HGNC:5213	HSD17B4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5213		
GO:0062149	detection of stimulus involved in sensory perception of pain	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0062149	The series of events involved in the perception of pain in which a stimulus is received and converted into a molecular signal.	
UBERON:0009526	maxillary process mesenchyme	biolink:AnatomicalEntity	mondo			mesenchyme of maxillary process|mesenchyme of maxillary prominence	http://purl.obolibrary.org/obo/UBERON_0009526	Mesenchyme that is part of a maxillary prominence.	
ENVO:2000045	hydrocarbon-based environmental material	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_2000045		
HGNC:7876	NOS3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7876		
UBERON:0010506	meningeal dura mater	biolink:AnatomicalEntity	mondo			inner layer of dura mater|meningeal dura|meningeal layer of dura mater	http://purl.obolibrary.org/obo/UBERON_0010506	The inner layer of the dura mater surrounding the brain. It is mostly fused with the outer layer, the endocranium that is adherent to the inner aspect of the cranial bones. These two layers form the dura mater. The latter covers and protects the brain and the spinal cord.	
CHEBI:42724	(R)-amphetamine	biolink:ChemicalSubstance	mondo			(2R)-1-phenylpropan-2-amine|(R)-amphetamine|levamfetamine|(-)-amphetamine|(-)-phenylisopropylamine|(R)-alpha-methylphenethylamine|levamphetamine|(R)-alpha-methylbenzeneethanamine	http://purl.obolibrary.org/obo/CHEBI_42724	A 1-phenylpropan-2-amine that has R configuration.	
CL:0000630	supportive cell	biolink:Cell	mondo	BTO:0002315			http://purl.obolibrary.org/obo/CL_0000630	A cell whose primary function is to support other cell types.	
UBERON:0010507	layer of dura mater	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0010507	The intracranial dura mater, consisting of two layers: the outer periosteal layer which normally always adheres to the periosteum of the bones of the cranial vault; and the inner meningeal layer which in most places is fused with the outer. The two layers separate to accommodate meningeal vessels and large venous (dural) sinuses. The meningeal layer is also involved in the formation of the various dural folds, such as the falx cerebri and tentorium cerebelli and is comparable to and continuous with the dural mater of the spinal cord. The cranial epidural space is then a potential space between the bone and the combined periosteum/periosteal layer of the dura mater realised only pathologically and is neither continuous with or comparable to the vertebral epidural space	
HGNC:5218	HSD3B2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5218		
CHEBI:30751	formic acid	biolink:ChemicalSubstance	mondo			hydrogen carboxylic acid|Acide formique|formic acid|FORMIC ACID|Formic acid|aminic acid|methoic acid|bilorin|Ameisensaeure|HCOOH|Methanoic acid|formylic acid|HCO2H|H-COOH	http://purl.obolibrary.org/obo/CHEBI_30751	The simplest carboxylic acid, containing a single carbon. Occurs naturally in various sources including the venom of bee and ant stings, and is a useful organic synthetic reagent. Principally used as a preservative and antibacterial agent in livestock feed. Induces severe metabolic acidosis and ocular injury in human subjects.	
NCBITaxon:88770	Panarthropoda	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_88770		
CHEBI:17792	organohalogen compound	biolink:ChemicalSubstance	mondo			organic halide|organic halides|RX|organohalogen compounds	http://purl.obolibrary.org/obo/CHEBI_17792	A compound containing at least one carbon-halogen bond (where X is a halogen atom).	
HGNC:7871	NONO	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7871		
GO:0003824	catalytic activity	biolink:OntologyClass	mondo			enzyme activity	http://purl.obolibrary.org/obo/GO_0003824	Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic.	
UBERON:0009521	anal membrane endodermal component	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009521	An endoderm that is part of a anal region.	
CHEBI:17790	methanol	biolink:ChemicalSubstance	mondo			methanol|METHANOL|Methanol|wood alcohol|Methylalkohol|CH3OH|spirit of wood|wood spirit|MeOH|carbinol|wood naphtha|Methyl alcohol	http://purl.obolibrary.org/obo/CHEBI_17790	The primary alcohol that is the simplest aliphatic alcohol, comprising a methyl and an alcohol group.	
UBERON:0009522	lateral lingual swelling epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009522	An epithelium that is part of a lateral lingual swelling.	
HGNC:7873	NOS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7873		
UBERON:0009523	mesenchyme of handplate	biolink:AnatomicalEntity	mondo			hand plate mesenchyme|handplate mesenchyme	http://purl.obolibrary.org/obo/UBERON_0009523	Mesenchyme that is part of a handplate.	
MONDO:0001723	progressive peripheral pterygium	biolink:Disease	mondo	DOID:13474|SCTID:193881001|ICD9:372.42|COHD:377291|UMLS:C0155155			http://purl.obolibrary.org/obo/MONDO_0001723		SNOMEDCT:193881001|DOID:13474|UMLS:C0155155
MONDO:0001722	central pterygium	biolink:Disease	mondo	ICD9:372.43|DOID:13473|SCTID:43300008|COHD:376411|UMLS:C0155156			http://purl.obolibrary.org/obo/MONDO_0001722		SNOMEDCT:43300008|UMLS:C0155156|DOID:13473
MONDO:0001721	urethral intrinsic sphincter deficiency	biolink:Disease	mondo	ICD9:599.82|UMLS:C0375381|ICD10:N36.42|DOID:13461		intrinsic (urethral) sphincter deficiency [ISD]	http://purl.obolibrary.org/obo/MONDO_0001721		UMLS:C0375381|DOID:13461
MONDO:0001720	gonococcal synovitis	biolink:Disease	mondo	SCTID:266138002|DOID:13454|UMLS:C0343714|UMLS:C0275662|ICD9:098.51		gonococcal synovitis and tenosynovitis|gonococcal synovitis or tenosynovitis|gonococcal synovitis &/or tenosynovitis	http://purl.obolibrary.org/obo/MONDO_0001720	An synovitis (disease) caused by infection with Neisseria gonorrhoeae.	UMLS:C0275662|UMLS:C0343714|SNOMEDCT:266138002|DOID:13454
MONDO:0013705	MRT19	biolink:Disease	mondo	OMIM:614343|UMLS:C3280541		mental retardation, autosomal recessive 19|intellectual disability, autosomal recessive 19; MRT19|mental retardation, autosomal recessive 19; MRT19|MRT19|intellectual disability, autosomal recessive 19	http://purl.obolibrary.org/obo/MONDO_0013705		UMLS:C3280541|http://identifiers.org/omim/614343
MONDO:0013706	MRT23	biolink:Disease	mondo	OMIM:614344|UMLS:C3280542		MRT23|mental retardation, autosomal recessive 23|intellectual disability, autosomal recessive 23|intellectual disability, autosomal recessive 23; MRT23|mental retardation, autosomal recessive 23; MRT23	http://purl.obolibrary.org/obo/MONDO_0013706		UMLS:C3280542|http://identifiers.org/omim/614344
MONDO:0013703	MRT33	biolink:Disease	mondo	OMIM:614341|UMLS:C3280539		intellectual disability, autosomal recessive 33|intellectual disability, autosomal recessive 33; MRT33|mental retardation, autosomal recessive 33|MRT33|mental retardation, autosomal recessive 33; MRT33	http://purl.obolibrary.org/obo/MONDO_0013703		UMLS:C3280539|http://identifiers.org/omim/614341
UBERON:0010580	pedal digit 1 phalanx pre-cartilage condensation	biolink:AnatomicalEntity	mondo			pedal digit I phalanx pre-cartilage condensation|foot digit 1 phalanx pre-cartilage condensation|hind limb digit 1 phalanx pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0010580	A pre-cartilage condensation that is part of a pedal digit 1 mesenchyme.	
HGNC:10702	SEC23B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10702		
MONDO:0013704	MRT30	biolink:Disease	mondo	OMIM:614342|UMLS:C3280540		intellectual disability, autosomal recessive 30; MRT30|intellectual disability, autosomal recessive 30|MRT30|mental retardation, autosomal recessive 30; MRT30|mental retardation, autosomal recessive 30	http://purl.obolibrary.org/obo/MONDO_0013704		UMLS:C3280540|http://identifiers.org/omim/614342
MONDO:0013709	MRT28	biolink:Disease	mondo	OMIM:614347|UMLS:C3280545		mental retardation, autosomal recessive 28|intellectual disability, autosomal recessive 28|mental retardation, autosomal recessive 28; MRT28|intellectual disability, autosomal recessive 28; MRT28|MRT28	http://purl.obolibrary.org/obo/MONDO_0013709		UMLS:C3280545|http://identifiers.org/omim/614347
UBERON:0010586	manual digit phalanx pre-cartilage condensation	biolink:AnatomicalEntity	mondo			forelimb phalanx pre-cartilage condensation|hand phalanx pre-cartilage condensation|fore limb digit phalanx pre-cartilage condensation|hand digit phalanx pre-cartilage condensation|manus phalanx pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0010586	A pre-cartilage condensation that is part of a manual digit mesenchyme.	
MONDO:0013707	MRT24	biolink:Disease	mondo	OMIM:614345|UMLS:C3280543		MRT24|mental retardation, autosomal recessive 24|intellectual disability, autosomal recessive 24|mental retardation, autosomal recessive 24; MRT24|intellectual disability, autosomal recessive 24; MRT24	http://purl.obolibrary.org/obo/MONDO_0013707		UMLS:C3280543|http://identifiers.org/omim/614345
UBERON:0010584	pedal digit 5 phalanx pre-cartilage condensation	biolink:AnatomicalEntity	mondo			foot digit 5 phalanx pre-cartilage condensation|hind limb digit 5 phalanx pre-cartilage condensation|pedal digit V phalanx pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0010584	A pre-cartilage condensation that is part of a pedal digit 5 mesenchyme.	
HGNC:10706	SEC24D	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10706		
MONDO:0013708	MRT25	biolink:Disease	mondo	OMIM:614346|UMLS:C3280544		MRT25|mental retardation, autosomal recessive 25|intellectual disability, autosomal recessive 25|mental retardation, autosomal recessive 25; MRT25|intellectual disability, autosomal recessive 25; MRT25	http://purl.obolibrary.org/obo/MONDO_0013708		UMLS:C3280544|http://identifiers.org/omim/614346
UBERON:0010585	pedal digit phalanx pre-cartilage condensation	biolink:AnatomicalEntity	mondo			foot phalanx pre-cartilage condensation|pes phalanx pre-cartilage condensation|foot digit phalanx pre-cartilage condensation|hind limb digit phalanx pre-cartilage condensation|hindlimb phalanx pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0010585	A pre-cartilage condensation that is part of a pedal digit mesenchyme.	
UBERON:0010579	manual digit 5 phalanx pre-cartilage condensation	biolink:AnatomicalEntity	mondo			fore limb digit 5 phalanx pre-cartilage condensation|manual digit V phalanx pre-cartilage condensation|hand digit 5 phalanx pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0010579	A pre-cartilage condensation that is part of a manual digit 5 mesenchyme.	
GO:1904364	positive regulation of calcitonin secretion	biolink:OntologyClass	mondo			up regulation of calcitonin secretion|up-regulation of calcitonin secretion|activation of calcitonin secretion|upregulation of calcitonin secretion	http://purl.obolibrary.org/obo/GO_1904364	Any process that activates or increases the frequency, rate or extent of calcitonin secretion.	
GO:1904363	negative regulation of calcitonin secretion	biolink:OntologyClass	mondo			downregulation of calcitonin secretion|down regulation of calcitonin secretion|inhibition of calcitonin secretion|down-regulation of calcitonin secretion	http://purl.obolibrary.org/obo/GO_1904363	Any process that stops, prevents or reduces the frequency, rate or extent of calcitonin secretion.	
GO:1904362	regulation of calcitonin secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1904362	Any process that modulates the frequency, rate or extent of calcitonin secretion.	
MONDO:0013712	surfactant metabolism dysfunction, pulmonary, 5	biolink:Disease	mondo	OMIM:614370|UMLS:C3280574		surfactant metabolism dysfunction, pulmonary, type 5|Pap due to Csf2Rb deficiency|surfactant metabolism dysfunction, pulmonary, 5|surfactant metabolism dysfunction, pulmonary, 5; SMDP5|hereditary pulmonary alveolar proteinosis caused by mutation in CSF2RB|CSF2RB hereditary pulmonary alveolar proteinosis|Csf2Rb deficiency|pulmonary alveolar proteinosis 5|SMDP5	http://purl.obolibrary.org/obo/MONDO_0013712	Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene.	UMLS:C3280574|http://identifiers.org/omim/614370
HGNC:5227	HSF4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5227		
MONDO:0013713	dengue virus, susceptibility to	biolink:Disease	mondo	OMIM:614371	predisposition	dengue virus, susceptibility to|Dengue shock syndrome, susceptibility to|susceptibility to dengue virus|Dengue hemorrhagic fever, susceptibility to|Dengue fever, susceptibility to|Dengue fever, protection against	http://purl.obolibrary.org/obo/MONDO_0013713		http://identifiers.org/omim/614371
HGNC:5228	DNAJB2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5228		
MONDO:0013710	colorectal cancer, hereditary nonpolyposis, type 5	biolink:Disease	mondo	DOID:0070272|OMIM:614350|MESH:C563456|UMLS:C1833477		colorectal cancer, hereditary nonpolyposis, type 5; HNPCC5|HNPCC5|colorectal cancer, hereditary nonpolyposis, type 5|hereditary nonpolyposis colon cancer caused by mutation in MSH6|MSH6 hereditary nonpolyposis colon cancer	http://purl.obolibrary.org/obo/MONDO_0013710	Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MSH6 gene.	DOID:0070272|http://identifiers.org/omim/614350|UMLS:C1833477|MESH:C563456
MONDO:0013711	peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	biolink:Disease	mondo	UMLS:C3280556|OMIM:614369|ICD10:G60.0|Orphanet:397744	ordo_disease	PNMHH|peripheral neuropathy, myopathy, hoarseness, and hearing loss|peripheral neuropathy, myopathy, hoarseness, and hearing loss; PNMHH|peripheral neuropathy-myopathy-hoarseness-deafness syndrome	http://purl.obolibrary.org/obo/MONDO_0013711		ORPHA:397744|UMLS:C3280556|http://identifiers.org/omim/614369
MONDO:0001716	corneal argyrosis	biolink:Disease	mondo	SCTID:21328003|UMLS:C0155108|DOID:13447|ICD9:371.16|ICD10:H18.02		argyrosis of cornea|argentous corneal deposits	http://purl.obolibrary.org/obo/MONDO_0001716		DOID:13447|UMLS:C0155108|SNOMEDCT:21328003
MONDO:0001715	basilar artery occlusion	biolink:Disease	mondo	ICD9:433.0|ICD10:I65.1|DOID:13446|SCTID:195180004|ICD9:433.01|ICD9:433.00|COHD:437308			http://purl.obolibrary.org/obo/MONDO_0001715		DOID:13446|SNOMEDCT:195180004
MONDO:0001714	bejel	biolink:Disease	mondo	DOID:13431|GARD:0005905|UMLS:C0004945	gard_rare	endemic syphilis|Treponema pallidum subsp. endemicum disease or disorder|Dichuchwa|nonvenereal syphilis|Njovera|Treponema pallidum subsp. endemicum infectious disease|Treponema pallidum subsp. endemicum caused disease or disorder|Frenga|nonvenereal endemic syphilis	http://purl.obolibrary.org/obo/MONDO_0001714	A chronic skin and tissue disease caused by infection by the endemicum subspecies of the spirochete Treponema pallidum.	DOID:13431|UMLS:C0004945
MONDO:0001713	inherited aplastic anemia	biolink:Disease	mondo	UMLS:C0949116|GARD:0006149|SCTID:28975000|ICD9:284.0|ICD10:D61.0|MESH:D029502|Orphanet:68383|UMLS:C0702159|ICD10:D61.01|ICD9:284.09|DOID:1342	ordo_group_of_disorders	congenital aplastic anemia|congenital hypoplastic anemia|hereditary aplastic anemia|constitutional aplastic anaemia|constitutional aplastic anemia|hypoplastic anemia - familial|rare constitutional aplastic anemia	http://purl.obolibrary.org/obo/MONDO_0001713	An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia.	DOID:1342|UMLS:C0702159|MESH:D029502|UMLS:C0949116|ORPHA:68383|SNOMEDCT:28975000
HGNC:7882	NOTCH2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7882		
HGNC:7881	NOTCH1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7881		
MONDO:0001719	gonococcal bursitis	biolink:Disease	mondo	SCTID:46699001|ICD10:A54.49|UMLS:C0153218|DOID:13453|ICD10:M73.0|ICD9:098.52		Neisseria gonorrhoeae caused bursitis|Neisseria gonorrhoeae bursitis	http://purl.obolibrary.org/obo/MONDO_0001719	An bursitis caused by infection with Neisseria gonorrhoeae.	DOID:13453|SNOMEDCT:46699001|UMLS:C0153218
MONDO:0001718	scleritis (disease)	biolink:Disease	mondo	ICD9:379.00|COHD:434944|MESH:D015423|HP:0100532|ICD10:H15.00|SCTID:78370002|NCIT:C119046|DOID:13452|GARD:0012911|ICD10:H15.0|UMLS:C0036416		scleritis	http://purl.obolibrary.org/obo/MONDO_0001718	Inflammation of the sclera.	DOID:13452|UMLS:C0036416|NCIT:C119046|MESH:D015423|SNOMEDCT:78370002
MONDO:0001717	posterior corneal pigmentation	biolink:Disease	mondo	DOID:13448|UMLS:C0155106|SCTID:267639001|ICD10:H18.05|ICD9:371.13		posterior corneal pigmentations	http://purl.obolibrary.org/obo/MONDO_0001717		SNOMEDCT:267639001|UMLS:C0155106|DOID:13448
HGNC:7883	NOTCH3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7883		
MONDO:0001730	urethral syndrome	biolink:Disease	mondo	ICD10:N34.3|ICD9:597.81|DOID:13498|SCTID:31273004|COHD:196733|UMLS:C0156279			http://purl.obolibrary.org/obo/MONDO_0001730		UMLS:C0156279|DOID:13498|SNOMEDCT:31273004
MONDO:0001734	tuberous sclerosis	biolink:Disease	mondo	ICD9:759.5|OMIMPS:191100|NCIT:C3424|SCTID:7199000|MESH:D014402|ICD10:Q85.1|DOID:13515	clingen	TSC|Bourneville pringle disease|tuberous sclerosis Complex|tuberose sclerosis|Bourneville-pringle's disease|adenoma sebaceum syndrome|Bourneville's syndrome|Phacomatosis, Bourneville|adenoma sebaceum|Bourneville-Pringles disease|Bourneville pringle's disease|ts - tuberous sclerosis|bourneville's disease|Bourneville phakomatosis|Bourneville syndrome|tuberous sclerosis|tuberous sclerosis syndrome|sclerosis, tuberose|disease, Bourneville-pringle|Bourneville disease|syndrome, Bourneville|phakomatosis, Bourneville|cerebral sclerosis|Epiloia|sclerosis, cerebral|cerebral Scleroses|sclerosis, tuberous|Bourneville-pringle disease|disease, Bourneville-pringle's|sclerosis Tuberosa|syndrome, Bourneville's|Bourneville's disease|Bourneville Phacomatosis	http://purl.obolibrary.org/obo/MONDO_0001734	Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade.	SNOMEDCT:7199000|NCIT:C3424|MESH:D014402|DOID:13515
CHEBI:29745	barbiturate	biolink:ChemicalSubstance	mondo			2,4,6-trioxotetrahydro-2H-pyrimidin-1-ide|barbiturate anion	http://purl.obolibrary.org/obo/CHEBI_29745	Conjugate base of barbituric acid.	
MONDO:0001733	occlusion of tributary of retinal vein	biolink:Disease	mondo	ICD9:362.36|DOID:13514		venous tributary branch occlusion of retina|venous tributary occlusion of retina|venous tributary (branch) occlusion of retina	http://purl.obolibrary.org/obo/MONDO_0001733		DOID:13514
MONDO:0001732	trigonitis	biolink:Disease	mondo	NCIT:C123175|COHD:441615|UMLS:C1261278|DOID:13507|ICD10:N30.3|ICD9:595.3|SCTID:74445007		trigone of urinary bladder inflammation|inflammation of trigone of urinary bladder	http://purl.obolibrary.org/obo/MONDO_0001732	Inflammation of the trigone of the urinary bladder.	UMLS:C1261278|NCIT:C123175|DOID:13507|SNOMEDCT:74445007
UBERON:0009580	diencephalon mantle layer	biolink:AnatomicalEntity	mondo			mantle layer lateral wall diencephalon|diencephalon lateral wall mantle layer	http://purl.obolibrary.org/obo/UBERON_0009580		
MONDO:0001731	benign vaginal mixed epithelial and mesenchymal neoplasm	biolink:Disease	mondo	DOID:135|UMLS:C1511106|NCIT:C40275		benign vaginal carcinosarcoma|benign vaginal mixed epithelial and mesenchymal tumor|benign vaginal mixed epithelial and mesenchymal neoplasm	http://purl.obolibrary.org/obo/MONDO_0001731	A non-metastasizing neoplasm that arises from the vagina and is characterized by the presence of benign epithelial and benign mesenchymal elements.	NCIT:C40275|DOID:135|UMLS:C1511106
UBERON:0009581	midbrain mantle layer	biolink:AnatomicalEntity	mondo			mantle layer lateral wall mesencephalon|midbrain lateral wall mantle layer|mantle layer lateral wall midbrain	http://purl.obolibrary.org/obo/UBERON_0009581		
CL:0000613	basophil progenitor cell	biolink:Cell	mondo			BaP|colony forming unit basophil|CFU-Bas|basophilic stem cell	http://purl.obolibrary.org/obo/CL_0000613	A progenitor cell committed to the basophil lineage. This cell lacks hematopoietic lineage markers (lin-negative) and is CD34-positive, T1/ST2-low, CD117-negative, and FceRIa-high. This cell also expresses Gata-1, Gata-2 and C/EBPa.	
UBERON:0010570	manual digit 1 metacarpus cartilage element	biolink:AnatomicalEntity	mondo			metacarpus 1 cartilage element|fore limb digit 1 metacarpus cartilage element|hand digit 1 metacarpus cartilage element|finger 1 metacarpus cartilage element|manual digit I metacarpus cartilage element	http://purl.obolibrary.org/obo/UBERON_0010570	A manual digit metacarpus cartilage element that is part of a manual digit 1 mesenchyme.	
UBERON:0010575	manual digit 1 phalanx pre-cartilage condensation	biolink:AnatomicalEntity	mondo			manual digit I phalanx pre-cartilage condensation|fore limb digit 1 phalanx pre-cartilage condensation|hand digit 1 phalanx pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0010575	A pre-cartilage condensation that is part of a manual digit 1 mesenchyme.	
UBERON:0010574	manual digit 5 metacarpus cartilage element	biolink:AnatomicalEntity	mondo			finger 5 metacarpus cartilage condensation|fore limb digit 5 metacarpus cartilage element|manual digit V metacarpus cartilage element|metacarpus 5 cartilage element|hand digit 5 metacarpus cartilage element	http://purl.obolibrary.org/obo/UBERON_0010574	A manual digit metacarpus cartilage element that is part of a manual digit 5 mesenchyme.	
HGNC:10718	SELE	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10718		
HGNC:7897	NPC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7897		
UBERON:0010569	manual digit 5 metacarpus pre-cartilage condensation	biolink:AnatomicalEntity	mondo			finger 5 metacarpus pre-cartilage condensation|metacarpal 5 pre-cartilage condensation|manual digit V metacarpus pre-cartilage condensation|fore limb digit 5 metacarpus pre-cartilage condensation|hand digit 5 metacarpus pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0010569	A manual digit metacarpus pre-cartilage condensation that is part of a manual digit 5 mesenchyme.	
MONDO:0013701	obsolete MRT32	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0013701		
MONDO:0013702	intellectual disability, autosomal recessive 27	biolink:Disease	mondo	OMIM:614340|UMLS:C3280538		intellectual disability, autosomal recessive 27; MRT27|mental retardation, autosomal recessive type 27|mental retardation, autosomal recessive 27|LINS1 autosomal recessive non-syndromic intellectual disability|MRT27|intellectual disability, autosomal recessive type 27|autosomal recessive non-syndromic intellectual disability caused by mutation in LINS1|mental retardation, autosomal recessive 27; MRT27|intellectual disability, autosomal recessive 27	http://purl.obolibrary.org/obo/MONDO_0013702	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LINS1 gene.	UMLS:C3280538|http://identifiers.org/omim/614340
HGNC:10723	SEMA3A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10723		
MONDO:0013700	pancreatic triacylglycerol lipase deficiency	biolink:Disease	mondo	ICD10:K90.3|SCTID:78960005|NCIT:C129030|Orphanet:309031|OMIM:614338|ICD9:277.89|UMLS:C0268240	ordo_disease	lipase and colipase, deficiency of|lipase, congenital absence of pancreatic|pancreatic lipase deficiency; PNLIPD|pancreatic colipase deficiency|PNLIPD|colipase, congenital absence of pancreatic|PL deficiency|pancreatic triglyceride lipase deficiency|lipase and colipase, congenital absence of pancreatic|pancreatic lipase deficiency	http://purl.obolibrary.org/obo/MONDO_0013700	An autosomal recessive disorder caused by mutation(s) in the PNLIP gene, encoding pancreatic triacylglycerol lipase. The condition is characterized by absent or reduced pancreatic lipase.	http://identifiers.org/omim/614338|UMLS:C0268240|NCIT:C129030|SNOMEDCT:78960005|ORPHA:309031
HGNC:10721	SELP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10721		
MONDO:0001727	active cochleovestibular Meniere disease	biolink:Disease	mondo	SCTID:194348002|ICD9:386.01|UMLS:C0155496|DOID:13490		active cochleovestibular Meniere disease|active cochleovestibular Meniere's disease|active Meniere's disease, cochleovestibular|cochleovestibular active Mnire's disease	http://purl.obolibrary.org/obo/MONDO_0001727		DOID:13490|UMLS:C0155496|SNOMEDCT:194348002
MONDO:0001726	childhood disintegrative disease	biolink:Disease	mondo	ICD10:F84.3|DOID:13487|SCTID:61831009|ICD9:299.1		symbiotic psychosis|disintegrative psychosis|heller's syndrome	http://purl.obolibrary.org/obo/MONDO_0001726	A pediatric disorder characterized by normal development for at least the first two years of life followed by a severe regression in language, social interaction, bowel or bladder control, and/or motor skills. The affected individual may also exhibit repetitive and stereotyped patterns of behavior similar to autism.	SNOMEDCT:61831009|DOID:13487
UBERON:0009583	spinal cord mantle layer	biolink:AnatomicalEntity	mondo			spinal cord lateral wall mantle layer|mantle layer lateral wall spinal cord	http://purl.obolibrary.org/obo/UBERON_0009583		
MONDO:0001725	balanitis xerotica obliterans	biolink:Disease	mondo	DOID:13477|NCIT:C3523|SCTID:198033005|UMLS:C0152460|ICD9:607.81|COHD:141917		lichen Sclerosus of the penis|penile lichen Sclerosus|lichen Sclerosus of penis	http://purl.obolibrary.org/obo/MONDO_0001725	A chronic and progressive inflammatory process that affects the glans penis and the foreskin. It presents with white atrophic patches in the glans of penis and foreskin and it is often associated with the development of a sclerotic, whitish ring in the tip of the foreskin that may lead to phimosis. It is also known as lichen sclerosus of the penis.	NCIT:C3523|UMLS:C0152460|SNOMEDCT:198033005|DOID:13477
UBERON:0009584	1st arch mandibular mesenchyme	biolink:AnatomicalEntity	mondo			mandibular component mesenchyme|mesenchyme of mandibular component|mesenchymal region of mandibular component of first pharyngeal arch|mandibular mesenchyme	http://purl.obolibrary.org/obo/UBERON_0009584	Mesenchyme that is part of a 1st arch mandibular component.	
MONDO:0001724	supraglottis cancer	biolink:Disease	mondo	ICD10:C32.1|SCTID:187842004|DOID:13476|COHD:4092212|NCIT:C3545|UMLS:C0153484|ICD9:161.1		cancer of supraglottic part of larynx|supraglottic part of larynx cancer|Ca larynx - supraglottis|malignant neoplasm of supraglottis|malignant supraglottic part of larynx neoplasm|malignant supraglottis neoplasm|malignant supraglottic neoplasm|malignant tumor of supraglottis|malignant supraglottic tumor|malignant neoplasm of supraglottic part of larynx|malignant tumor of the supraglottis|malignant neoplasm of extrinsic larynx|malignant supraglottis tumor|malignant neoplasm of the supraglottis	http://purl.obolibrary.org/obo/MONDO_0001724	A malignant neoplasm that affects the supraglottic area of the larynx. The vast majority of cases are squamous cell carcinomas.	UMLS:C0153484|NCIT:C3545|SNOMEDCT:187842004|DOID:13476
HGNC:7892	PNP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7892		
MONDO:0001729	active cochlear Meniere disease	biolink:Disease	mondo	UMLS:C0155497|ICD9:386.02|DOID:13492|SCTID:194349005		cochlear active Mnire's disease|active Meniere's disease, cochlear|active cochlear Meniere's disease|active cochlear Meniere disease	http://purl.obolibrary.org/obo/MONDO_0001729		DOID:13492|SNOMEDCT:194349005|UMLS:C0155497
MONDO:0001728	active vestibular Meniere disease	biolink:Disease	mondo	ICD9:386.03|UMLS:C0155498|SCTID:194350005|DOID:13491		active Meniere's disease, vestibular|active vestibular Meniere disease|active vestibular Meniere's disease|vestibular active Mnire's disease	http://purl.obolibrary.org/obo/MONDO_0001728		DOID:13491|UMLS:C0155498|SNOMEDCT:194350005
MONDO:0001701	gastrointestinal anthrax	biolink:Disease	mondo	SCTID:111798006|ICD10:A22.2|UMLS:C0152945|DOID:13386|ICD9:022.2|MESH:C571911			http://purl.obolibrary.org/obo/MONDO_0001701	An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has material basis in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite.	DOID:13386|UMLS:C0152945|MESH:C571911|SNOMEDCT:111798006
MONDO:0001700	megaloblastic anemia (disease)	biolink:Disease	mondo	COHD:435789|SCTID:53165003|NCIT:C34382|UMLS:C0002888|DOID:13382|HP:0001889|ICD9:281.3|ICD10:D53.1		MGA1 Norwegian type|RH-MGA1|megaloblastic anemia|recessive hereditary megaloblastic anemia 1|Imerslund-Grasbeck syndrome|IGS|Grasbeck-Imerslund syndrome	http://purl.obolibrary.org/obo/MONDO_0001700	Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs.	DOID:13382|SNOMEDCT:53165003|UMLS:C0002888|NCIT:C34382
UBERON:0009570	spinal cord sulcus limitans	biolink:AnatomicalEntity	mondo			spinal cord lateral wall sulcus limitans	http://purl.obolibrary.org/obo/UBERON_0009570	A sulcus limitans of neural tube that is part of a future spinal cord.	
UBERON:0010561	pedal digit 5 metatarsal cartilage element	biolink:AnatomicalEntity	mondo			pedal digit V metatarsal cartilage element|hind limb digit 5 metatarsal cartilage element|toe 5 metatarsal cartilage element|foot digit 5 metatarsal cartilage element	http://purl.obolibrary.org/obo/UBERON_0010561	A pedal digit metatarsal cartilage element that is part of a pedal digit 5 mesenchyme.	
UBERON:0010564	manual digit 1 mesenchyme	biolink:AnatomicalEntity	mondo			manual digit I mesenchyme|fore limb digit 1 mesenchyme|hand digit 1 mesenchyme	http://purl.obolibrary.org/obo/UBERON_0010564	Mesenchyme that is part of a developing manual digit 1.	
UBERON:0010565	manual digit 1 metacarpus pre-cartilage condensation	biolink:AnatomicalEntity	mondo			manual digit I metacarpus pre-cartilage condensation|finger 1 metacarpus pre-cartilage condensation|fore limb digit 1 metacarpus pre-cartilage condensation|hand digit 1 metacarpus pre-cartilage condensation|metacarpal 1 pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0010565	A manual digit metacarpus pre-cartilage condensation that is part of a manual digit 1 mesenchyme.	
UBERON:0010562	pedal digit 1 mesenchyme	biolink:AnatomicalEntity	mondo			pedal digit I mesenchyme|foot digit 1 mesenchyme|hind limb digit 1 mesenchyme	http://purl.obolibrary.org/obo/UBERON_0010562	Mesenchyme that is part of a developing pedal digit 1.	
UBERON:0010557	pedal digit 1 metatarsal cartilage element	biolink:AnatomicalEntity	mondo			foot digit 1 metatarsal cartilage element|toe 1 metatarsal cartilage condensation|hind limb digit 1 metatarsal cartilage condensation|pedal digit I metatarsal cartilage element	http://purl.obolibrary.org/obo/UBERON_0010557	A pedal digit metatarsal cartilage condensation that is part of a pedal digit 1 mesenchyme.	
HGNC:5246	HSPB1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5246		
HGNC:5248	HSPB3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5248		
UBERON:0009572	lumen of central canal of spinal cord	biolink:AnatomicalEntity	mondo			spinal cord lumen|central canal lumen|cavity of central canal of spinal cord|neural lumen	http://purl.obolibrary.org/obo/UBERON_0009572	A cerebrospinal fluid-filled space that runs longitudinally through the length of the entire spinal cord. The central canal is contiguous with the ventricular system of the brain. The central canal represents the adult remainder of the neural tube.	
UBERON:0009576	medulla oblongata sulcus limitans	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009576	A sulcus limitans of neural tube that is part of a future medulla oblongata.	
UBERON:0009577	metencephalon sulcus limitans	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009577	A sulcus limitans of neural tube that is part of a future metencephalon.	
UBERON:0009578	myelencephalon sulcus limitans	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009578	A sulcus limitans of neural tube that is part of a future myelencephalon.	
HGNC:5244	HSPA9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/5244		
MONDO:0001712	alexia	biolink:Disease	mondo	COHD:440084|MESH:D004411|ICD9:315.01|DOID:13417		Word Blindnesses, acquired|acquired Word Blindnesses|acquired global dyslexia|acquired reading disability|reading disability, acquired|spelling dyslexia, acquired|acquired reading disabilities|reading disabilities, acquired|dyslexia, acquired spelling|Blindnesses, acquired Word|acquired spelling dyslexia|aphemesthaesia|blindness, acquired Word|disability, acquired reading|acquired alexia|global dyslexia, acquired|acquired Word blindness|acquired dyslexia|alexia, acquired|Word blindness, acquired|dyslexia, acquired global|disabilities, acquired reading	http://purl.obolibrary.org/obo/MONDO_0001712	A receptive visual aphasia characterized by the loss of a previously possessed ability to comprehend the meaning or significance of handwritten words, despite intact vision. This condition may be associated with posterior cerebral artery infarction (infarction, posterior cerebral artery) and other brain diseases.	MESH:D004411|DOID:13417
MONDO:0001711	hepatic encephalopathy	biolink:Disease	mondo	DOID:13413|COHD:4029488|SCTID:13920009|ICD10:K72|UMLS:C0019151|NCIT:C79596|MESH:D006501|ICD9:572.2|GARD:0010452	gard_rare	portal-systemic encephalopathy|Hepatoencephalopathy|encephalopathy, hepatic	http://purl.obolibrary.org/obo/MONDO_0001711	Hepatic encephalopathy is a syndrome observed in some patients with cirrhosis. It is defined as a spectrum of neuropsychiatric abnormalities in patients with liver dysfunction, when other known brain disease has been excluded.Signs and symptomsmay be debilitating, and they can begin mildly and gradually, or occur suddenly and severely. They may includepersonality or moodchanges, intellectual impairment, abnormal movements,a depressed level of consciousness, and other symptoms.There are several theories regarding the exact cause, butdevelopment of the condition isprobablyat least partiallydue to the effect of substances that are toxic to nerve tissue (neurotoxic), which are typically present with liver damage and/or liver disease. Treatment depends upon the severity of mental status changes and upon the certainty of the diagnosis.	MESH:D006501|SNOMEDCT:13920009|NCIT:C79596|UMLS:C0019151|DOID:13413
MONDO:0001710	perforation of bile duct	biolink:Disease	mondo	ICD10:K83.2|SCTID:37439003|DOID:13409|UMLS:C0156218|COHD:192957|ICD9:576.3			http://purl.obolibrary.org/obo/MONDO_0001710	A rupture in the wall of the extrahepatic or intrahepatic bile duct due to traumatic or pathologic processes.	SNOMEDCT:37439003|NCIT:C78528|DOID:13409|UMLS:C0156218
UBERON:0010551	pedal digit 5 metatarsal pre-cartilage condensation	biolink:AnatomicalEntity	mondo			toe 5 metatarsal pre-cartilage condensation|hind limb digit 5 metatarsal pre-cartilage condensation|pedal digit V metatarsal pre-cartilage condensation|foot digit 5 metatarsal pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0010551	A pedal digit metatarsal pre-cartilage condensation that is part of a pedal digit 5 mesenchyme.	
UBERON:0009568	trunk region of vertebral column	biolink:AnatomicalEntity	mondo			presacral region|trunk skeleton|trunk vertebral column|thoracolumbar vertebral column|trunk spine|thoracolumbar column|thoracolumbar vertebrae set|thoracolumbar region of vertebral column|trunk region|trunk vertebrae series|thoracolumbar region	http://purl.obolibrary.org/obo/UBERON_0009568	Subdivision of vertebral column that corresponds to the trunk of the body, containing the trunk/presacral vertebrae. In organisms that have a thoracic and lumbar distinction, this corresponds to the sum of both of these regions.	
UBERON:0010546	metapodial skeleton	biolink:AnatomicalEntity	mondo			metapodium skeleton|metapodium|metacarpal/metatarsal skeleton|metapodial skeleton|skeleton of metapodium|skeletal parts of metapodium	http://purl.obolibrary.org/obo/UBERON_0010546	Subdivision of skeleton that corresponds to metapodium region, between acropodial skeleton and mesopdoial skeleton.	
UBERON:0010547	pedal digit 1 metatarsal pre-cartilage condensation	biolink:AnatomicalEntity	mondo			foot digit 1 metatarsal pre-cartilage condensation|pedal digit I metatarsal pre-cartilage condensation|toe 1 metatarsal pre-cartilage condensation|hind limb digit 1 metatarsal pre-cartilage condensation	http://purl.obolibrary.org/obo/UBERON_0010547	A pedal digit metatarsal pre-cartilage condensation that is part of a pedal digit 1 mesenchyme.	
UBERON:0009569	subdivision of trunk	biolink:AnatomicalEntity	mondo			trunk subdivision|region of trunk	http://purl.obolibrary.org/obo/UBERON_0009569		
UBERON:0010544	metacarpus skeleton	biolink:AnatomicalEntity	mondo			ossa metacarpi [I-V]|fore metapodium|fore metapodial skeleton|metacarpalia|metacarpals [I-V]|set of metacarpals|metacarpal bones|metacarpals set|ossa metacarpalia [I-V]|set of metacarpal bones|skeleton of metacarpus|anterior metapodium|set of metacarpals [I-V]|metacarpal skeleton|anterior metapodial skeleton	http://purl.obolibrary.org/obo/UBERON_0010544	The metacarpus is the intermediate part of the manus skeleton that is located between the phalanges (bones of the fingers) distally and the carpus which forms the connection to the forearm. The metacarpus consists of metacarpal bones. The metacarpals form a transverse arch to which the rigid row of distal carpal bones are fixed. The peripheral metacarpals (those of the thumb and little finger) form the sides of the cup of the palmar gutter and as they are brought together they deepen this concavity. The index metacarpal is the most firmly fixed, while the thumb metacarpal articulates with the trapezium and acts independently from the others. The middle metacarpals are tightly united to the carpus by intrinsic interlocking bone elements at their bases. The ring metacarpal forms a transitional element of the semi-independent last metacarpal. [WP,unvetted].	
UBERON:0010545	metatarsus skeleton	biolink:AnatomicalEntity	mondo			set of metatarsals [I-V]|metatarsal bones set|ossa metatarsalia|metatarsal skeleton|ossa metatarsi[I-V]|posterior metapodium|metatarsals [I-V]|ossa metatarsalia [I-V]|posterior metapodial skeleton|set of metatarsal bones|skeleton of metatarsus|metatarsalia	http://purl.obolibrary.org/obo/UBERON_0010545	Limb segment that consists of the long bones of the pes. The metatarsals are analogous to the metacarpal bones of the manus.	
HGNC:10701	SEC23A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10701		
MONDO:0001705	pure red-cell aplasia	biolink:Disease	mondo	ICD9:284.81|GARD:0007504|COHD:140065|DOID:1340|SCTID:50715003|NCIT:C34974|UMLS:C0034902|MESH:D012010		pure red cell aplasia|primary red cell aplasia|PRCA|red cell hypoplasia	http://purl.obolibrary.org/obo/MONDO_0001705	A disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia, and selective erythroid hypoplasia.	NCIT:C34974|DOID:1340|UMLS:C0034902|SNOMEDCT:50715003|MESH:D012010
MONDO:0001704	vaginal glandular neoplasm	biolink:Disease	mondo	NCIT:C40250|UMLS:C1519921|DOID:134		vaginal glandular tumor|vaginal glandular neoplasm|vagina glandular cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0001704	A benign or malignant neoplasm that arises from the vagina and is characterized by the presence of neoplastic glandular epithelial cells. Representative examples include adenoma, endometrioid adenocarcinoma, and clear cell adenocarcinoma.	UMLS:C1519921|NCIT:C40250|DOID:134
MONDO:0001703	color vision disorder	biolink:Disease	mondo	NCIT:C3891|UMLS:C0009398|UMLS:C0242225|ICD10:H53.50|ICD10:H53.5|DOID:13399|SCTID:193683001|ICD9:368.5|UMLS:CN207064|ICD9:368.59|Orphanet:98658	ordo_group_of_disorders	color blindness|colour blindness|color-vision disease|color vision defects|colour vision deficiency|color vision deficiency|blindness color	http://purl.obolibrary.org/obo/MONDO_0001703	The absence of or defect in the perception of colors.	UMLS:CN207064|DOID:13399|SNOMEDCT:193683001|UMLS:C0242225|NCIT:C3891|UMLS:C0009398|ORPHA:98658
MONDO:0001702	labia majora carcinoma	biolink:Disease	mondo	UMLS:C1334356|DOID:13389|NCIT:C9363		carcinoma of the labia majora|carcinoma of labium majora|labia majora cancer|carcinoma of labia majora|labia majora carcinoma|labium majora carcinoma	http://purl.obolibrary.org/obo/MONDO_0001702	A carcinoma that arises from the labia majora.	DOID:13389|UMLS:C1334356|NCIT:C9363
UBERON:0009564	distal limb integumentary appendage	biolink:AnatomicalEntity	mondo			keratin plate|keratin sheath|hoof, claw or nail|unguis|hoof or claw	http://purl.obolibrary.org/obo/UBERON_0009564	A nail, hoof or claw.	
MONDO:0001709	hypercalcemic sarcoidosis	biolink:Disease	mondo	DOID:13407|UMLS:C1334067|NCIT:C35807			http://purl.obolibrary.org/obo/MONDO_0001709	Sarcoidosis with a complication of hypercalcemia.	NCIT:C35807|DOID:13407|UMLS:C1334067
MONDO:0001708	pulmonary sarcoidosis	biolink:Disease	mondo	ICD10:D86.0|COHD:4086243|DOID:13406|SCTID:24369008|UMLS:C0036205|NCIT:C34997|ICD9:517.8|MESH:D017565		lung sarcoidosis|sarcoidosis of lung	http://purl.obolibrary.org/obo/MONDO_0001708	Sarcoidosis affecting the lung parenchyma. It is characterized by the presence of non-necrotizing granulomas in the lung tissues. It is manifested with dyspnea, cough, fever, night sweats, fatigue, and weight loss.	UMLS:C0036205|NCIT:C34997|DOID:13406|MESH:D017565|SNOMEDCT:24369008
UBERON:0009565	nail of manual digit	biolink:AnatomicalEntity	mondo			manual claw|fingernail|finger nail|claw of hand|forelimb digit claw|nail plate of finger|nail of finger|claw of manus	http://purl.obolibrary.org/obo/UBERON_0009565	A nail that is part of a manual digit.	
MONDO:0001707	cardiac sarcoidosis	biolink:Disease	mondo	UMLS:C0392077|DOID:13405|NCIT:C35589|SCTID:75403004		heart sarcoidosis|sarcoidosis of heart	http://purl.obolibrary.org/obo/MONDO_0001707	Sarcoidosis affecting the tissues of the heart.	DOID:13405|UMLS:C0392077|SNOMEDCT:75403004|NCIT:C35589
UBERON:0009566	intestinal submucosa	biolink:AnatomicalEntity	mondo			submucosa of intestine	http://purl.obolibrary.org/obo/UBERON_0009566	A submucosa that is part of a intestine.	
MONDO:0001706	cerebral sarcoidosis	biolink:Disease	mondo	NCIT:C35441|DOID:13403|SCTID:111936002|UMLS:C0398676		telencephalon sarcoidosis|cerebral sarcoidosis|sarcoidosis of telencephalon	http://purl.obolibrary.org/obo/MONDO_0001706	Sarcoidosis of the cerebrum.	UMLS:C0398676|DOID:13403|SNOMEDCT:111936002|NCIT:C35441
UBERON:0009567	nail of pedal digit	biolink:AnatomicalEntity	mondo			nail plate of toe|toenail|nail of pes|hindlimb digit claw|toe nail|nail of toe|claw of pes|claw of foot|hindlimb claw|pedal claw|claw of toe	http://purl.obolibrary.org/obo/UBERON_0009567	A nail that is part of a pedal digit.	
NCBITaxon:210	Helicobacter pylori	organism taxon	mondo	GC_ID:11|PMID:11931154|PMID:1995031|PMID:8186097|PMID:8494747		Campylobacter pyloridis|Helicobacter nemestrinae|Campylobacter pylori subsp. pylori|Campylobacter pylori	http://purl.obolibrary.org/obo/NCBITaxon_210		
CHEBI:27081	transition element atom	biolink:ChemicalSubstance	mondo			metaux de transition|metal de transicion|transition metal|metal de transition|Uebergangselement|metales de transicion|transition metals|transition element|transition elements|transition element|Uebergangsmetalle	http://purl.obolibrary.org/obo/CHEBI_27081	An element whose atom has an incomplete d sub-shell, or which can give rise to cations with an incomplete d sub-shell.	
CHEBI:78675	fundamental metabolite	biolink:ChemicalSubstance	mondo			fundamental metabolites|essential metabolite|essential metabolites	http://purl.obolibrary.org/obo/CHEBI_78675	Any metabolite produced by all living cells.	
NCBITaxon:235	Brucella abortus	organism taxon	mondo	GC_ID:11		Bacterium abortus|Brucella melitensis biovar Abortus|Brucella melitensis bv. Abortus	http://purl.obolibrary.org/obo/NCBITaxon_235		
NCBITaxon:234	Brucella	organism taxon	mondo	PMID:28066370|PMID:8573514|GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_234		
CHEBI:64049	food acidity regulator	biolink:ChemicalSubstance	mondo			pH control agent|pH control agents|food acidity regulators|acidity regulator|acidity regulators	http://purl.obolibrary.org/obo/CHEBI_64049	A food additive that is used to change or otherwise control the acidity or alkalinity of foods. They may be acids, bases, neutralising agents or buffering agents.	
CHEBI:64047	food additive	biolink:ChemicalSubstance	mondo			food additives	http://purl.obolibrary.org/obo/CHEBI_64047	Any substance which is added to food to preserve or enhance its flavour and/or appearance.	
GO:0015758		biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0015758		
GO:0015760	glucose-6-phosphate transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0015760	The directed movement of glucose-6-phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6.	
GO:0015739	sialic acid transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0015739	The directed movement of sialic acid into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
CL:0000680	muscle precursor cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000680	A non-terminally differentiated cell that is capable of developing into a muscle cell.	
UBERON:0009636	prechordal cartilage	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009636	Chondrocranium chondrification center that that forms anterior body of sphenoid, containing the sella turcica and posterior body of sphenoid.	
HGNC:7800	NFKBIL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7800		
UBERON:0009638	orbitosphenoid ossification center	biolink:AnatomicalEntity	mondo			orbitosphenoid center	http://purl.obolibrary.org/obo/UBERON_0009638		
CHEBI:76042	aromatic amino-acid zwitterion	biolink:ChemicalSubstance	mondo			aromatic amino-acid zwitterions|an aromatic amino-acid	http://purl.obolibrary.org/obo/CHEBI_76042	An amino acid zwitterion obtained by transfer of a proton from the carboxy to the amino group of any aromatic amino-acid.	
UBERON:0009639	body of sphenoid	biolink:AnatomicalEntity	mondo			sphenoid body|central body of sphenoid|body of sphenoidal bone|corpus ossis sphenoidalis|Entire body of sphenoid bone|corpus (os sphenoidale)	http://purl.obolibrary.org/obo/UBERON_0009639	The body of the sphenoid bone, more or less cubical in shape, is hollowed out in its interior to form two large cavities, the sphenoidal air sinuses, which are separated from each other by a septum.	
UBERON:0009630	root of thoracic nerve	biolink:AnatomicalEntity	mondo			nerve root part of thoracic spinal cord|thoracic neural root|thoracic nerve root	http://purl.obolibrary.org/obo/UBERON_0009630	A spinal nerve root that is part of a thoracic nerve.	
UBERON:0009631	root of lumbar spinal nerve	biolink:AnatomicalEntity	mondo			lumbar spinal nerve root|nerve root part of lumbar spinal cord|lumbar spinal neural root	http://purl.obolibrary.org/obo/UBERON_0009631	A spinal nerve root that is part of a lumbar nerve.	
UBERON:0009632	root of cervical nerve	biolink:AnatomicalEntity	mondo			root of cervical spinal nerve|cervical spinal root|nerve root part of cervical spinal cord|cervical neural root	http://purl.obolibrary.org/obo/UBERON_0009632		
UBERON:0009633	root of sacral nerve	biolink:AnatomicalEntity	mondo			nerve root part of sacral spinal cord|sacral neural root|root of sacral spinal nerve	http://purl.obolibrary.org/obo/UBERON_0009633	A spinal nerve root that is part of a sacral nerve.	
ECTO:4000000	exposure to deviation(from_normal)deviation (from_normal) of quality	biolink:OntologyClass	mondo			exposure to deviation(from_normal)deviation (from_normal) in quality	http://purl.obolibrary.org/obo/ECTO_4000000	A exposure event involving the interaction of an exposure receptor to deviation(from_normal)deviation (from_normal) of quality.	
ECTO:4000001	exposure to increased temperature	biolink:OntologyClass	mondo			increased temperature exposure	http://purl.obolibrary.org/obo/ECTO_4000001	A exposure event involving the interaction of an exposure receptor to increased temperature.	
CL:0010004	mononuclear cell of bone marrow	biolink:Cell	mondo			bone marrow mononuclear cell	http://purl.obolibrary.org/obo/CL_0010004	A mononuclear cell that is part_of a bone marrow.	
CL:0010001	stromal cell of bone marrow	biolink:Cell	mondo			bone marrow stromal cell	http://purl.obolibrary.org/obo/CL_0010001	A stromal cell that is part_of a bone marrow.	
HGNC:7808	NGF	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7808		
GO:0015748	organophosphate ester transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0015748	The directed movement of organophosphate esters into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organophosphate esters are small organic molecules containing phosphate ester bonds.	
GO:0015749	monosaccharide transmembrane transport	biolink:OntologyClass	mondo			monosaccharide transport	http://purl.obolibrary.org/obo/GO_0015749	The process in which a monosaccharide is transported across a lipid bilayer, from one side of a membrane to the other. Monosaccharides are the simplest carbohydrates; they are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides.	
UBERON:0009623	spinal nerve root	biolink:AnatomicalEntity	mondo			spinal root|root of spinal nerve|spinal neural root	http://purl.obolibrary.org/obo/UBERON_0009623	The paired bundles of nerve fibers entering and leaving the spinal cord at each segment. The dorsal and ventral nerve roots join to form the mixed segmental spinal nerves. The dorsal roots are generally afferent, formed by the central projections of the spinal (dorsal root) ganglia sensory cells, and the ventral roots efferent, comprising the axons of spinal motor and autonomic preganglionic neurons. There are, however, some exceptions to this afferent/efferent rule.	
UBERON:0009624	lumbar nerve	biolink:AnatomicalEntity	mondo			nervus lumbalis|lumbar spinal nerve|nervi lumbales	http://purl.obolibrary.org/obo/UBERON_0009624	The lumbar nerves are the five spinal nerves emerging from the lumbar vertebrae. They are divided into posterior and anterior divisions.	
UBERON:0009625	sacral nerve	biolink:AnatomicalEntity	mondo			sacral spinal nerve|nervus sacralis|nervi sacrales	http://purl.obolibrary.org/obo/UBERON_0009625	The five sacral nerves emerge from the sacrum. Although the vertebral components of the sacrum are fused into a single bone, the sacral vertebrae are still used to number the sacral nerves. Posteriorly, they emerge from the posterior sacral foramina, and form the posterior branches of sacral nerves. Anteriorly, they emerge from the anterior sacral foramina, and contribute to the sacral plexus (S1-S4) and coccygeal plexus.	
CL:0010009	camera-type eye photoreceptor cell	biolink:Cell	mondo			camera type eye photoreceptor cell	http://purl.obolibrary.org/obo/CL_0010009		
NCBITaxon:263	Francisella tularensis	organism taxon	mondo	GC_ID:11		Brucella tularensis|Pasteurella tularensis|Bacterium tularense|Francisella tularense	http://purl.obolibrary.org/obo/NCBITaxon_263		
NCBITaxon:262	Francisella	organism taxon	mondo	PMID:8123561|PMID:19783615|GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_262		
CHEBI:15036	retinoate	biolink:ChemicalSubstance	mondo			3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoate|retinoate	http://purl.obolibrary.org/obo/CHEBI_15036		
UBERON:0009621	tail somite	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009621	A somite that is part of a tail.	
UBERON:0009622	pronephric proximal straight tubule	biolink:AnatomicalEntity	mondo			proximal straight tubules	http://purl.obolibrary.org/obo/UBERON_0009622	A proximal straight tubule that is part of a pronephros.	
CL:0000667	collagen secreting cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0000667	An extracellular matrix secreting cell that secretes collagen.	
CL:0000669	pericyte cell	biolink:Cell	mondo	BTO:0002441|FMA:63174		pericyte of Rouget|cell of Rouget|ARC|pericyte|adventitial reticular cell|adventitial cell	http://purl.obolibrary.org/obo/CL_0000669	An elongated, contractile cell found wrapped about precapillary arterioles outside the basement membrane. Pericytes are present in capillaries where proper adventitia and muscle layer are missing (thus distingushing this cell type from adventitial cells). They are relatively undifferentiated and may become fibroblasts, macrophages, or smooth muscle cells.	
PATO-PROPERTY:decreased_in_magnitude_relative_to	decreased_in_magnitude_relative_to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/pato#decreased_in_magnitude_relative_to	q1 decreased_in_magnitude_relative_to q2 if and only if magnitude(q1) < magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale.	
GO:0015711	organic anion transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0015711	The directed movement of organic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage.	
HGNC:7820	NHS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/7820		
GO:0015712	hexose phosphate transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0015712	The directed movement of hexose phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
UBERON:0009614	hindbrain neural plate	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009614	A neural plate that develops_from a presumptive hindbrain.	
UBERON:0009615	midbrain hindbrain boundary neural plate	biolink:AnatomicalEntity	mondo			MHB neural plate|midbrain-hindbrain boundary neural plate	http://purl.obolibrary.org/obo/UBERON_0009615		
UBERON:0009616	presumptive midbrain	biolink:AnatomicalEntity	mondo			early midbrain|future midbrain|presumptive mesencephalon|mesencephalon	http://purl.obolibrary.org/obo/UBERON_0009616	A presumptive structure that has the potential to develop into a midbrain.	
UBERON:0009617	head paraxial mesoderm	biolink:AnatomicalEntity	mondo			cephalic paraxial mesoderm|cranial paraxial mesoderm|head paraxial mesenchyme|cephalic paraxial mesenchyme|somitomeric mesoderm|somitomere|cranial paraxial mesenchyme	http://purl.obolibrary.org/obo/UBERON_0009617	Bilateral mesenchymal mesoderm parallel and immediately adjacent to the neural tube/notochord; it generates a subset of extra-ocular, and other head, muscles.	
UBERON:0009618	trunk paraxial mesoderm	biolink:AnatomicalEntity	mondo			trunk and cervical paraxial mesenchyme|trunk paraxial mesenchyme	http://purl.obolibrary.org/obo/UBERON_0009618		
UBERON:0009610	forebrain neural plate	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009610	A neural plate that develops_from a future forebrain.	
UBERON:0009611	midbrain neural plate	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0009611	A neural plate that develops_from a presumptive midbrain.	
CHEBI:27027	micronutrient	biolink:ChemicalSubstance	mondo			micronutrients|trace elements	http://purl.obolibrary.org/obo/CHEBI_27027	Any nutrient required in small quantities by organisms throughout their life in order to orchestrate a range of physiological functions.	
ENVO:00002030	aquatic biome	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_00002030	A biome which is determined by a water body and which has ecological climax communities adapted to life in or on water.	
CHEBI:27024	toluenes	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_27024	Any member of the class of benzenes that is a substituted benzene in which the substituents include one (and only one) methyl group.	
NCBITaxon:287	Pseudomonas aeruginosa	organism taxon	mondo	GC_ID:11		Bacterium pyocyaneum|Micrococcus pyocyaneus|Bacillus aeruginosus|probable synonym or variety: "Pseudomonas polycolor" Clara 1930|Bacillus pyocyaneus|Pseudomonas polycolor|Pseudomonas pyocyanea|Bacterium aeruginosum	http://purl.obolibrary.org/obo/NCBITaxon_287		
CHEBI:27026	toxin	biolink:ChemicalSubstance	mondo			toxin|toxins	http://purl.obolibrary.org/obo/CHEBI_27026	Poisonous substance produced by a biological organism such as a microbe, animal or plant.	
UBERON:0009602	left lung associated mesenchyme	biolink:AnatomicalEntity	mondo			left lung mesenchyme	http://purl.obolibrary.org/obo/UBERON_0009602	Mesenchyme that is part of a developing left lung.	
GO:0015723	bilirubin transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0015723	The directed movement of bilirubin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
UBERON:0009603	right lung associated mesenchyme	biolink:AnatomicalEntity	mondo			right lung mesenchyme	http://purl.obolibrary.org/obo/UBERON_0009603	Mesenchyme that is part of a developing right lung.	
NCBITaxon:286	Pseudomonas	organism taxon	mondo	PMID:15950132|PMID:10758879|PMID:9103607|PMID:18048745|GC_ID:11|PMID:23918787|PMID:7727274|PMID:10939664		Liquidomonas|"Chlorobacterium" Guillebeau 1890, nom. rejic. Opin. 6 (not "Chlorobacterium" Lauterborn 1916)|RNA similarity group I|Loefflerella	http://purl.obolibrary.org/obo/NCBITaxon_286		
CHEBI:39000	sodium channel modulator	biolink:ChemicalSubstance	mondo			sodium channel modulators	http://purl.obolibrary.org/obo/CHEBI_39000		
MONDO:0023155	fibula aplasia complex brachydactyly	biolink:Disease	mondo	GARD:0002329	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023155		
ENVO:00002004	obsolete physical object of mesoscopic geological size	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_00002004	An object which is large enough to be visible to humans, but small enough that humans can handle the object (i.e. transport it, examine it, etc) in its entirety with little to no technological assistance.	
MONDO:0023156	obsolete fibular aplasia	biolink:Disease	mondo	GARD:0008659	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023156		
ECTO:4000030	exposure to decreased amount of temperature of soil	biolink:OntologyClass	mondo			exposure to decreased amount in temperature of soil	http://purl.obolibrary.org/obo/ECTO_4000030	A exposure event involving the interaction of an exposure receptor to decreased amount of temperature of soil.	
MONDO:0023157	fibular hypoplasia scapulo pelvic dysplasia absent	biolink:Disease	mondo	GARD:0002333	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023157		
MONDO:0023158	Fitz-Hugh-Curtis syndrome	biolink:Disease	mondo	GARD:0006452|MESH:C537936|SCTID:237041005	gard_rare	gonococcal perihepatitis|perihepatitis syndrome	http://purl.obolibrary.org/obo/MONDO_0023158	Fitz-Hugh-Curtis syndrome (FHCS) is a condition in which a woman has swelling of the tissue covering the liver as a result of having pelvic inflammatory disease (PID). Symptoms most often include pain in the upper right abdomen just below the ribs, fever, nausea, or vomiting. The symptoms of pelvic inflammatory disease - pain in the lower abdomen and vaginal discharge -are oftenpresent as well. FHCS is usually caused by an infection of chlamydia or gonorrhea that leads to PID; it is not known why PIDprogresses toFHCS in some women. Fitz-Hugh-Curtis syndrome is treatedwith antibiotics.	MESH:C537936|SNOMEDCT:237041005
ENVO:00002000	slope	biolink:OntologyClass	mondo			flank|side	http://purl.obolibrary.org/obo/ENVO_00002000	A solid astronomical body part which is part of the planetary surface between the peak of an elevation or the bottom of a depression and  relatively flat surrounding land.	
ECTO:4000031	exposure to increased amount of temperature of water	biolink:OntologyClass	mondo			exposure to increased amount in temperature of water	http://purl.obolibrary.org/obo/ECTO_4000031	A exposure event involving the interaction of an exposure receptor to increased amount of temperature of water.	
ECTO:4000032	exposure to decreased amount of temperature of water	biolink:OntologyClass	mondo			exposure to decreased amount in temperature of water	http://purl.obolibrary.org/obo/ECTO_4000032	A exposure event involving the interaction of an exposure receptor to decreased amount of temperature of water.	
MONDO:0023152	fibrocartilaginous embolism	biolink:Disease	mondo	MESH:C537927|GARD:0009718|UMLS:C2931666	gard_rare	embolism, fibrocartilaginous	http://purl.obolibrary.org/obo/MONDO_0023152	Fibrocartilaginous embolism (FCE) is a rare type of embolism (sudden blocking of an artery) that occurs in the spinal cord. FCE occurs when materials that are usually found within the vertebral disc of the spine enter into the nearby vascular system (veins and arteries) and block one of the spinal cord vessels. The signs and symptoms of FCE often develop after a minor or even unnoticed btriggering eventb such as lifting, straining, or falling. Symptoms of FCE may include neck and/or back pain, progressive muscle weakness, and paralysis.The exact underlying cause of FCE is poorly understood. Most cases occur sporadically in people with no family history of the disease. Diagnosis is based on imaging of the spinal cord and ruling out other causes of a blockage of the vascular system within the spinal cord. Treatment is generally focused on preventing possible complications and improving quality of life with medications and physical therapy.	MESH:C537927|UMLS:C2931666
MONDO:0023153	tuberculous ascites	biolink:Disease	mondo	UMLS:C0275919|NCIT:C27076|SCTID:4501007		Tuberculous Ascites|Tuberculous ascites|tuberculous ascites	http://purl.obolibrary.org/obo/MONDO_0023153		SNOMEDCT:4501007|NCIT:C27076|UMLS:C0275919
MONDO:0023154	fibromatosis multiple non ossifying	biolink:Disease	mondo	GARD:0000309|SCTID:715432009|UMLS:C0796000	gard_rare	Jaffe Campanacci syndrome|disseminated nonossifying fibromas in association with cafe-au-lait spots	http://purl.obolibrary.org/obo/MONDO_0023154		SNOMEDCT:715432009|UMLS:C0796000
MONDO:0011177	ectodermal dysplasia 4, hair/nail type	biolink:Disease	mondo	OMIM:602032|DOID:0111658|GARD:0004364|MESH:C566592	gard_rare	ECTD4|KRT85 pure hair and nail ectodermal dysplasia|ectodermal dysplasia, 'Pure' hair/nail type|pili torti onychodysplasia|pure hair and nail ectodermal dysplasia caused by mutation in KRT85|twisted hair with nail dysplasias|ectodermal dysplasia 4, hair/nail type|ectodermal dysplasia 4, hair/nail type; ECTD4	http://purl.obolibrary.org/obo/MONDO_0011177	Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT85 gene.	MESH:C566592|DOID:0111658|http://identifiers.org/omim/602032
MONDO:0011176	intestinal hypomagnesemia 1	biolink:Disease	mondo	ICD10:E83.4|Orphanet:30924|OMIM:602014|SCTID:190856003|GARD:0013072|DOID:0060883|MESH:C566593|UMLS:C1865974	ordo_disease	hypomagnesemia caused by selective magnesium malabsorption|TRPM6 familial primary hypomagnesemia|hypomagnesemia intestinal type 1|intestinal hypomagnesemia with secondary hypocalcemia|HSH|PHSH|HOMG1|hypomagnesemia 1, intestinal; HOMG1|primary hypomagnesemia with secondary hypocalcemia|intestinal hypomagnesemia type 1|hypomagnesemia with secondary hypocalcemia|hypomagnesemia, intestinal, with secondary hypocalcemia|familial primary hypomagnesemia caused by mutation in TRPM6|Homg|hypomagnesemic tetany|primary hypomagnesemia caused by mutation in TRPM6|hypomagnesemia 1, intestinal|TRPM6 primary hypomagnesemia	http://purl.obolibrary.org/obo/MONDO_0011176	Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications.	SNOMEDCT:190856003|UMLS:C1865974|MESH:C566593|ORPHA:30924|DOID:0060883|http://identifiers.org/omim/602014
MONDO:0011179	leishmaniasis, tegumentary, susceptibility to	biolink:Disease	mondo	OMIM:602068	predisposition	leishmaniasis, tegumentary, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0011179		http://identifiers.org/omim/602068
MONDO:0011178	infantile convulsions and choreoathetosis	biolink:Disease	mondo	Orphanet:31709|GARD:0008553|UMLS:C1865926|ICD10:G40.4|NCIT:C126650|MESH:C535522|OMIM:602066|SCTID:715534008	ordo_disease	convulsions, infantile, with paroxysmal choreoathetosis, familial|Icca syndrome|convulsions, familial infantile, with paroxysmal choreoathetosis; ICCA|convulsions, familial infantile, with paroxysmal choreoathetosis|infantile convulsions and paroxysmal choreoathetosis, familial|paroxysmal kinesigenic dyskinesia and infantile convulsions|PKD/IC|paroxysmal kinesigenic dyskinesia with infantile convulsions|ICCA syndrome|ICCA	http://purl.obolibrary.org/obo/MONDO_0011178	Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy) and choreoathetotic dyskinetic attacks during childhood or adolescence.	http://identifiers.org/omim/602066|UMLS:C1865926|SNOMEDCT:715534008|ORPHA:31709|MESH:C535522|NCIT:C126650
BFO:0000050	part of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BFO_0000050	a core relation that holds between a part and its whole	
HP:0000479	Abnormal retinal morphology	biolink:PhenotypicFeature	mondo	UMLS:C0035309|SNOMEDCT_US:29555009|MSH:D012164|UMLS:C0035300	hposlim_core	Abnormal retina|Retina issue|Retinal disease|Abnormality of the retina|Anomaly of the retina	http://purl.obolibrary.org/obo/HP_0000479	A structural abnormality of the retina.	
HP:0000478	Abnormality of the eye	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:371405004|UMLS:C0015393|SNOMEDCT_US:371409005|MSH:D005128|SNOMEDCT_US:19416009|MSH:D005124|UMLS:C0015397	hposlim_core	Eye disease|Abnormal eye|Abnormality of the eye	http://purl.obolibrary.org/obo/HP_0000478	Any abnormality of the eye, including location, spacing, and intraocular abnormalities.	
BFO:0000055	realizes	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BFO_0000055		
ECTO:4000026	exposure to decreased amount of pressure of air	biolink:OntologyClass	mondo			exposure to decreased amount in pressure of water|decreased pressure exposure|exposure to decreased amount in pressure of air	http://purl.obolibrary.org/obo/ECTO_4000026	A exposure event involving the interaction of an exposure receptor to decreased amount of pressure of air.	
ECTO:4000027	exposure to increased amount of temperature of air	biolink:OntologyClass	mondo			exposure to increased amount in temperature of air|exposure to frozen in liquid water	http://purl.obolibrary.org/obo/ECTO_4000027	A exposure event involving the interaction of an exposure receptor to frozen of liquid water.	
BFO:0000057	has participant at some time	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BFO_0000057		
MONDO:0011171	odonto-tricho-ungual-digito-palmar syndrome	biolink:Disease	mondo	Orphanet:69082|SCTID:722063009|MESH:C566598|UMLS:C1865998|OMIM:601957	ordo_malformation_syndrome	OTUDP syndrome|odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type|ODONTOTRICHOUNGUAL-digital-palmar syndrome|Otudp syndrome	http://purl.obolibrary.org/obo/MONDO_0011171	Odonto-tricho-ungual-digito-palmar syndrome is characterised by neonatal teeth, trichodystrophy and malformations of the hands and feet. To date, it has been reported in 21 patients and is transmitted as an autosomal dominant trait.	SNOMEDCT:722063009|http://identifiers.org/omim/601957|ORPHA:69082|MESH:C566598|UMLS:C1865998
MONDO:0011170	autosomal recessive limb-girdle muscular dystrophy type 2G	biolink:Disease	mondo	Orphanet:34514|DOID:0110281|MESH:C566599|SCTID:720522001|OMIM:601954|ICD10:G71.0|GARD:0010471	ordo_disease	autosomal recessive limb-girdle muscular dystrophy caused by mutation in TCAP|muscular dystrophy, limb-girdle, type 2G; LGMD2G|autosomal recessive limb-girdle muscular dystrophy caused by mutation in Tcap|limb-girdle muscular dystrophy, type 2G|muscular dystrophy, limb-girdle, type 2G|LGMD2G|TCAP autosomal recessive limb-girdle muscular dystrophy|Tcap autosomal recessive limb-girdle muscular dystrophy|limb-girdle muscular dystrophy due to telethonin deficiency	http://purl.obolibrary.org/obo/MONDO_0011170	Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.	http://identifiers.org/omim/601954|MESH:C566599|DOID:0110281|SNOMEDCT:720522001|ORPHA:34514
ECTO:4000025	exposure to increased amount of pressure of water	biolink:OntologyClass	mondo			exposure to increased amount in pressure of air|exposure to increased amount in pressure of water|increased pressure exposure	http://purl.obolibrary.org/obo/ECTO_4000025	A exposure event involving the interaction of an exposure receptor to increased amount of pressure of air.	
MONDO:0011173	thrombocythemia 2	biolink:Disease	mondo	OMIM:601977|UMLS:C3275998		MPL essential thrombocythemia|thrombocythemia 2; THCYT2|thrombocythemia type 2|THCYT2|essential thrombocythemia caused by mutation in MPL|thrombocythemia 2	http://purl.obolibrary.org/obo/MONDO_0011173	Any essential thrombocythemia in which the cause of the disease is a mutation in the MPL gene.	UMLS:C3275998|http://identifiers.org/omim/601977
BFO:0000051	has part	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BFO_0000051	Q1 has_part Q2 if and only if: every instance of Q1 is a quality_of an entity that has_quality some Q2.	
ENVO:00002008	dust	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_00002008	Minute solid particles with diameters less than 500 micrometers. Occurs in and may be deposited from, the atmosphere.	
MONDO:0011172	otofacioosseous-gonadal syndrome	biolink:Disease	mondo	OMIM:601976|MESH:C566597|UMLS:C1865988		otofacioosseous-gonadal syndrome	http://purl.obolibrary.org/obo/MONDO_0011172		http://identifiers.org/omim/601976|MESH:C566597|UMLS:C1865988
BFO:0000052	inheres in at all times	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BFO_0000052		
ENVO:00002007	sediment	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_00002007	Sediment is an environmental substance comprised of any particulate matter that can be transported by fluid flow and which eventually is deposited as a layer of solid particles on the bedor bottom of a body of water or other liquid.	
MONDO:0011175	FRDA2	biolink:Disease	mondo	UMLS:C1865981|DOID:0111219|OMIM:601992|MESH:C566594		FRDA2|Friedreich ataxia 2; FRDA2|Friedreich ataxia 2	http://purl.obolibrary.org/obo/MONDO_0011175		http://identifiers.org/omim/601992|MESH:C566594|DOID:0111219|UMLS:C1865981
ECTO:4000028	exposure to frozen of air	biolink:OntologyClass	mondo			exposure to frozen in air	http://purl.obolibrary.org/obo/ECTO_4000028	A exposure event involving the interaction of an exposure receptor to frozen of air.	
ENVO:00002006	liquid water	biolink:OntologyClass	mondo			water	http://purl.obolibrary.org/obo/ENVO_00002006	An environmental material primarily composed of dihydrogen oxide in its liquid form.	
MONDO:0011174	hyperzincemia with functional zinc depletion	biolink:Disease	mondo	OMIM:601979|UMLS:C1865986|MESH:C566595		hyperzincemia with functional zinc depletion	http://purl.obolibrary.org/obo/MONDO_0011174		http://identifiers.org/omim/601979|MESH:C566595|UMLS:C1865986
ECTO:4000029	exposure to increased amount of temperature of soil	biolink:OntologyClass	mondo			exposure to increased amount in temperature of soil	http://purl.obolibrary.org/obo/ECTO_4000029	A exposure event involving the interaction of an exposure receptor to increased amount of temperature of soil.	
BFO:0000054	realized in	biolink:OntologyClass	mondo	BFO:0000054			http://purl.obolibrary.org/obo/BFO_0000054		
ENVO:00002005	air	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_00002005	The mixture of gases (roughly (by molar content/volume: 78% nitrogen, 20.95% oxygen, 0.93% argon, 0.038% carbon dioxide, trace amounts of other gases, and a variable amount (average around 1%) of water vapor) that surrounds the planet Earth.	
ENVO:00002013	igneous rock	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_00002013	Rock formed from molten magma.	
MONDO:0023147	fetal parainfluenza virus type 3 syndrome	biolink:Disease	mondo	GARD:0002309	gard_rare	Human respirovirus 3 infectious embryofetopathy|Human respirovirus 3 caused infectious embryofetopathy	http://purl.obolibrary.org/obo/MONDO_0023147	A syndrome caused by HPIV-3.	
MONDO:0023148	fetal phenothiazine syndrome	biolink:Disease	mondo	GARD:0002311	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023148		
MONDO:0023149	infection due to clostridium perfringens	biolink:Disease	mondo	SCTID:65154009|UMLS:C0275619|GARD:0011970	gard_rare	C. perfringens infection|Infections, Clostridium perfringens|Infection due to Clostridium perfringens|Clostridium perfringens infection|Infection, Clostridium perfringens|Clostridium perfringens Infections|Infection caused by Clostridium perfringens|Clostridium perfringens Infection	http://purl.obolibrary.org/obo/MONDO_0023149		UMLS:C0275619|SNOMEDCT:65154009
ENVO:00002010	saline water	biolink:OntologyClass	mondo			salt water	http://purl.obolibrary.org/obo/ENVO_00002010	Water which contains a significant concentration of dissolved salts.	
MONDO:0023140	fenton Wilkinson Toselano syndrome	biolink:Disease	mondo	GARD:0002287	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023140		
MONDO:0023141	obsolete antihypertensive drugs antenatal exposure syndrome	biolink:Disease	mondo	GARD:0000733		antihypertensive drugs antenatal exposure|fetal antihypertensive drugs syndrome	http://purl.obolibrary.org/obo/MONDO_0023141		
MONDO:0023142	fetal brain disruption sequence	biolink:Disease	mondo	GARD:0002297	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023142		
MONDO:0023143	fetal enterovirus syndrome	biolink:Disease	mondo	GARD:0002302	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023143		
MONDO:0011166	lymphedema-atrial septal defects-facial changes syndrome	biolink:Disease	mondo	OMIM:601927|Orphanet:86915|ICD10:Q87.8|MESH:C535539|SCTID:721978002|MESH:C567398|GARD:0000284	gard_rare|ordo_malformation_syndrome	lymphedema, atrial septal defect, and characteristic facial changes|lymphedema, CARDIAC septal defects, and characteristic facies|Irons Bhan syndrome|Irons-Bhan syndrome|autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes|Irons-Bianchi syndrome|lymphedema, atrial septal defect, and characteristic facies	http://purl.obolibrary.org/obo/MONDO_0011166	Lymphedema-atrial septal defects-facial changes syndrome is characterised by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive.	MESH:C567398|http://identifiers.org/omim/601927|SNOMEDCT:721978002|ORPHA:86915|MESH:C535539
MONDO:0011165	glomerulopathy with fibronectin deposits 2	biolink:Disease	mondo	SCTID:722759007|GARD:0009914|OMIM:601894		glomerular nephritis, familial, with fibronectin deposits|FN1 fibronectin glomerulopathy|fibronectin glomerulopathy caused by mutation in FN1|GFND2|glomerulopathy with fibronectin deposits 2; GFND2|glomerular nephritis familial with fibronectin deposits|glomerulopathy with fibronectin deposits 2|fibronectin glomerulopathy|glomerulopathy with fibronectin deposits type 2	http://purl.obolibrary.org/obo/MONDO_0011165	Any fibronectin glomerulopathy in which the cause of the disease is a mutation in the FN1 gene.	SNOMEDCT:722759007|http://identifiers.org/omim/601894
MONDO:0011168	type 1 diabetes mellitus 10	biolink:Disease	mondo	UMLS:C1866040|OMIM:601942|MESH:C566602|DOID:0110749|ICD10:E10		diabetes mellitus, insulin-dependent, 10; IDDM10|IL2RA type 1 diabetes mellitus|diabetes mellitus, insulin-dependent, type 10|insulin-dependent diabetes mellitus 10|type 1 diabetes mellitus caused by mutation in IL2RA|IDDM10|diabetes mellitus, insulin-dependent, 10	http://purl.obolibrary.org/obo/MONDO_0011168	Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the IL2RA gene.	http://identifiers.org/omim/601942|MESH:C566602|UMLS:C1866040|DOID:0110749
HP:0000486	Strabismus	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:22066006|MSH:D013285|SNOMEDCT_US:128602000|UMLS:C0038379	hposlim_core	Squint|Cross-eyed|Squint eyes	http://purl.obolibrary.org/obo/HP_0000486	A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.	
MONDO:0011167	type 1 diabetes mellitus 6	biolink:Disease	mondo	OMIM:601941|MESH:C566603|ICD10:E10|DOID:0110745|UMLS:C1866041	predisposition	IDDM6|diabetes mellitus, insulin-dependent, 6|insulin-dependent diabetes mellitus 6|autoimmune thyroid disease, susceptibility to, 5|diabetes mellitus, insulin-dependent, 6; IDDM6	http://purl.obolibrary.org/obo/MONDO_0011167	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 18q21.	http://identifiers.org/omim/601941|MESH:C566603|UMLS:C1866041|DOID:0110745
MONDO:0011169	keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome	biolink:Disease	mondo	OMIM:601952|ICD10:Q82.8|MESH:C566600|Orphanet:281201|SCTID:763775000|UMLS:C1866029	ordo_disease	keratosis linearis with ichthyosis congenita and sclerosing keratoderma|KLICK syndrome|Klick syndrome|keratosis linearis with ichthyosis congenita and sclerosing keratoderma; KLICK|KLICK	http://purl.obolibrary.org/obo/MONDO_0011169	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma (KLICK) syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities.	SNOMEDCT:763775000|http://identifiers.org/omim/601952|MESH:C566600|UMLS:C1866029|ORPHA:281201
MONDO:0011160	autosomal recessive nonsyndromic deafness 15	biolink:Disease	mondo	UMLS:C1866094|DOID:0110470|MESH:C566611|OMIM:601869|ICD10:H90.3		autosomal recessive deafness 72|GIPC3 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 15; DFNB15|DFNB95|deafness, autosomal recessive type 15|DFNB72|autosomal recessive nonsyndromic deafness caused by mutation in GIPC3|deafness, autosomal recessive 15|autosomal recessive deafness 15|autosomal recessive nonsyndromic deafness type 15|deafness, autosomal recessive 95|deafness, autosomal recessive 72|DFNB15|autosomal recessive deafness 95	http://purl.obolibrary.org/obo/MONDO_0011160	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GIPC3 gene.	http://identifiers.org/omim/601869|MESH:C566611|UMLS:C1866094|DOID:0110470
BFO:0000040	material entity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BFO_0000040	An independent continuant that is spatially extended whose identity is independent of that of other entities and can be maintained through time.	
MONDO:0011162	cataract 14 multiple types	biolink:Disease	mondo	DOID:0110253|UMLS:C1866078|OMIM:601885|MESH:C566608|ICD10:Q12.0		CAE3|cataract 14, multiple types|CZP3|cataract, zonular pulverulent 3|Cae3|CTRCT14|cataract 14, multiple types; CTRCT14|zonular pulverulent cataract 3|GJA3 early-onset non-syndromic cataract|early-onset non-syndromic cataract caused by mutation in GJA3	http://purl.obolibrary.org/obo/MONDO_0011162	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the GJA3 gene.	http://identifiers.org/omim/601885|MESH:C566608|DOID:0110253|UMLS:C1866078
MONDO:0011161	sperm-specific antigen 1	biolink:Disease	mondo	OMIM:601876		fertilization antigen 1|SSFA1|sperm-specific antigen 1|sperm-specific antigen type 1|sperm-specific antigen 1; SSFA1	http://purl.obolibrary.org/obo/MONDO_0011161		http://identifiers.org/omim/601876
ENVO:00002017	metamorphic rock	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_00002017	A rock formed by subjecting any rock type (including previously-formed metamorphic rock) to different temperature and pressure conditions than those in which the original rock was formed. These temperatures and pressures are always higher than those at the Earth's surface and must be sufficiently high so as to change the original minerals into other mineral types or else into other forms of the same minerals (e.g. by recrystallisation).	
MONDO:0011164	malignant hyperthermia, susceptibility to, 6	biolink:Disease	mondo	OMIM:601888|MESH:C535699|GARD:0003368	gard_rare|predisposition	malignant hyperthermia susceptibility type 6|malignant hyperthermia, susceptibility to, 6|malignant hyperpyrexia susceptibility type 6|malignant hyperthermia, susceptibility to, type 6|Mhs6|MHS6	http://purl.obolibrary.org/obo/MONDO_0011164		http://identifiers.org/omim/601888|MESH:C535699
MONDO:0011163	malignant hyperthermia, susceptibility to, 5	biolink:Disease	mondo	OMIM:601887|MESH:C535698|GARD:0003367	gard_rare|predisposition	malignant hyperthermia susceptibility type 5|malignant hyperthermia, susceptibility to, 5|malignant hyperthermia, susceptibility to, type 5|susceptibility to malignant hyperthermia 5|Mhs5|malignant hyperpyrexia susceptibility type 5|MHS5|CACNA1S malignant hyperthermia of anesthesia|malignant hyperthermia of anesthesia caused by mutation in CACNA1S	http://purl.obolibrary.org/obo/MONDO_0011163	Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the CACNA1S gene.	http://identifiers.org/omim/601887|MESH:C535698
HP:0000481	Abnormal cornea morphology	biolink:PhenotypicFeature	mondo	UMLS:C4020889|UMLS:C1855670	hposlim_core	Corneal abnormality|Corneal abnormalities|Cornela disease|Abnormality of the cornea	http://purl.obolibrary.org/obo/HP_0000481	Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber.	
ENVO:00002016	sedimentary rock	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_00002016	A rock formed by deposition of either clastic sediments, organic matter, or chemical precipitates (evaporites), followed by compaction of the particulate matter and cementation during diagenesis.	
MONDO:0023133	Faye-Petersen-Ward-Carey syndrome	biolink:Disease	mondo	UMLS:C2931417|MESH:C537076			http://purl.obolibrary.org/obo/MONDO_0023133		UMLS:C2931417|MESH:C537076
HP:0012440	Abnormal biliary tract morphology	biolink:PhenotypicFeature	mondo	UMLS:C4021086		Anomaly of the biliary tract	http://purl.obolibrary.org/obo/HP_0012440	A structural abnormality of the biliary tree.	
MONDO:0023134	febrile ulceronecrotic mucha-habermann disease	biolink:Disease	mondo	SCTID:402860008|MESH:C537077|UMLS:C1274297|GARD:0009516	gard_rare	variant of Mucha-Habermann disease|febrile ulceronecrotic pityriasis lichenoides acuta|febrile ulceronecrotic mucha-habermann disease|ulceronecrotic Mucha-Habermann disease|FUMHD|A severe variant of pityriasis lichenoides et varioliformis acuta (PLEVA)	http://purl.obolibrary.org/obo/MONDO_0023134	Febrile ulceronecrotic Mucha-Habermann disease (FUMHD) is a rare and severe form of pityriasis lichenoides et varioliformis acuta (PLEVA). PLEVA is characterized by skin lesions that ulcerate, breakdown, form open sores, then form a red-brown crust. FUMHD often begins as PLEVA, but then rapidly and suddenly progresses to large, destructive ulcers. There may be fever and extensive, painful loss of skin tissue as well as secondary infection of the ulcers. Diagnosis of FUMHD is confirmed by biopsy of skin lesions. FUMHD occurs more frequently in children, peaking at age 5 to 10. Males tend to be affected more often than females. While some cases of FUMHD have resolved without therapy, others have resulted in death. Early diagnosis and prompt treatment may help to reduce morbidity and death.	UMLS:C1274297|MESH:C537077|SNOMEDCT:402860008
HP:0012443	Abnormality of brain morphology	biolink:PhenotypicFeature	mondo	UMLS:C4021085		Abnormality of the brain|Abnormal shape of brain	http://purl.obolibrary.org/obo/HP_0012443	A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.	
HP:0012444	Brain atrophy	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:278849000|SNOMEDCT_US:52522001|UMLS:C0235946|UMLS:C0154671|SNOMEDCT_US:418143002		Brain degeneration|Brain wasting	http://purl.obolibrary.org/obo/HP_0012444	Partial or complete wasting (loss) of brain tissue that was once present.	
MONDO:0023137	feigenbaum Bergeron syndrome	biolink:Disease	mondo	GARD:0002280	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023137		
MONDO:0023138	Feingold trainer syndrome	biolink:Disease	mondo	UMLS:C2931126|MESH:C536179|GARD:0002282	gard_rare	unusual facies, cleft palate, short stature, and intellectual disability|unusual facies, cleft palate, short stature, and mental retardation	http://purl.obolibrary.org/obo/MONDO_0023138		UMLS:C2931126|MESH:C536179
CHEBI:78608	alpha-amino acid zwitterion	biolink:ChemicalSubstance	mondo			an alpha-amino acid	http://purl.obolibrary.org/obo/CHEBI_78608	An amino acid zwitterion obtained by transfer of a proton from the carboxy to the amino group of any alpha-amino acid; major species at pH 7.3.	
HP:0012447	Abnormal myelination	biolink:PhenotypicFeature	mondo	UMLS:C1857704			http://purl.obolibrary.org/obo/HP_0012447	Any anomaly in the process by which myelin sheaths are formed and maintained around neurons.	
HP:0000458	Anosmia	biolink:PhenotypicFeature	mondo	MSH:D000857|SNOMEDCT_US:44169009|UMLS:C0003126	hposlim_core	Lost smell|Loss of smell	http://purl.obolibrary.org/obo/HP_0000458	An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.	
MONDO:0011155	vacuolar Neuromyopathy	biolink:Disease	mondo	MESH:C566617|OMIM:601846|UMLS:C1866139		muscular dystrophy, autosomal dominant, with rimmed vacuoles|vacuolar Neuromyopathy	http://purl.obolibrary.org/obo/MONDO_0011155		http://identifiers.org/omim/601846|MESH:C566617|UMLS:C1866139
MONDO:0011154	acrofacial dysostosis, Palagonia type	biolink:Disease	mondo	MESH:C538185|Orphanet:1787|ICD10:Q75.4|SCTID:720429007|UMLS:C1866168|OMIM:601829|DOID:0060385|GARD:0000499	ordo_malformation_syndrome	PAFD|acrofacial dysostosis Palagonia type|Palagonia type of acrofacial dysostosis|Palagonia form of AFD|acrofacial dysostosis, Patagonia type|acrofacial dysostosis, Palagonia type|AFD- Palagonia type	http://purl.obolibrary.org/obo/MONDO_0011154	Acrofacial dysostosis, Palagonia type is a very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia, characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997.	MESH:C538185|http://identifiers.org/omim/601829|ORPHA:1787|UMLS:C1866168|DOID:0060385|SNOMEDCT:720429007
MONDO:0011157	Gomez-Lopez-Hernandez syndrome	biolink:Disease	mondo	SCTID:722451006|MESH:C537285|GARD:0000229|Orphanet:1532|ICD10:Q07.8|OMIM:601853	ordo_malformation_syndrome|gard_rare	Gómez-López-Hernández syndrome|GLHS|GOMEZ-LOPEZ-HERNANDEZ syndrome; GLHS|Cerebellotrigeminal-dermal dysplasia syndrome|Cerebellotrigeminal dermal dysplasia cerebello-trigeminal-dermal dysplasia|Gomez Lopez Hernandez syndrome|Gomez-Lopez-Hernandez syndrome|Cerebellotrigeminal dermal dysplasia|craniosynostosis-alopecia-brain defect syndrome|Cerebellotrigeminal-dermal dysplasia|Gomez-Lopez-Hernández syndrome	http://purl.obolibrary.org/obo/MONDO_0011157	Lopez-Hernandez syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behaviour and bipolar disorder have also been reported.	SNOMEDCT:722451006|http://identifiers.org/omim/601853|MESH:C537285|ORPHA:1532
MONDO:0011156	progressive familial intrahepatic cholestasis type 2	biolink:Disease	mondo	OMIM:601847|ICD10:K76.8|UMLS:CN205889|Orphanet:79304|DOID:0070222|GARD:0001288	ordo_clinical_subtype|gard_rare	ABCB11 progressive familial intrahepatic cholestasis|progressive familial intrahepatic cholestasis caused by mutation in ABCB11|cholestasis, progressive familial intrahepatic, 2; PFIC2|severe ABCB11 deficiency|PFIC2|cholestasis, progressive familial intrahepatic, type 2|cholestasis, progressive familial intrahepatic, 2|BSEP deficiency	http://purl.obolibrary.org/obo/MONDO_0011156	Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome.	UMLS:CN205889|DOID:0070222|http://identifiers.org/omim/601847|ORPHA:79304|UMLS:C1866138
MONDO:0011159	autosomal dominant nonsyndromic deafness 13	biolink:Disease	mondo	DOID:0110545|UMLS:C1866095|OMIM:601868|ICD10:H90.3|MESH:C566612		deafness, autosomal dominant 13; DFNA13|deafness, autosomal dominant 13|COL11A2 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness type 13|autosomal dominant nonsyndromic deafness caused by mutation in COL11A2|autosomal dominant deafness 13|deafness, autosomal dominant type 13|DFNA13	http://purl.obolibrary.org/obo/MONDO_0011159	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene.	DOID:0110545|http://identifiers.org/omim/601868|MESH:C566612|UMLS:C1866095
MONDO:0011158	autoimmune lymphoproliferative syndrome type 1	biolink:Disease	mondo	OMIM:601859|ICD9:279.41|SCTID:702444009		ALPS|autoimmune lymphoproliferative syndrome, type I, autosomal recessive|autoimmune lymphoproliferative syndrome, type I, autosomal dominant|autoimmune lymphoproliferative syndrome|autoimmune lymphoproliferative syndrome, type 1B|autoimmune lymphoproliferative syndrome, type 1A|Canale-Smith syndrome|autoimmune lymphoproliferative syndrome; ALPS	http://purl.obolibrary.org/obo/MONDO_0011158		http://identifiers.org/omim/601859|SNOMEDCT:702444009
CHEBI:52090	methoxide	biolink:ChemicalSubstance	mondo			methoxide ion	http://purl.obolibrary.org/obo/CHEBI_52090	An organic anion that is the conjugate base of methanol.	
ECTO:4000002	exposure to increased amount of salt	biolink:OntologyClass	mondo			exposure to increased amount in salt	http://purl.obolibrary.org/obo/ECTO_4000002	A exposure event involving the interaction of an exposure receptor to increased amount of salt.	
ECTO:4000003	exposure to decreased amount of salt	biolink:OntologyClass	mondo			exposure to decreased amount in salt	http://purl.obolibrary.org/obo/ECTO_4000003	A exposure event involving the interaction of an exposure receptor to decreased amount of salt.	
MONDO:0011151	exudative vitreoretinopathy 4	biolink:Disease	mondo	MESH:C566619|DOID:0111411|OMIM:601813|UMLS:C1866176		exudative vitreoretinopathy 4|exudative vitreoretinopathy type 4|exudative vitreoretinopathy 4; EVR4|EVR4	http://purl.obolibrary.org/obo/MONDO_0011151		http://identifiers.org/omim/601813|MESH:C566619|DOID:0111411|UMLS:C1866176
MONDO:0011150	acroosteolysis-keloid-like lesions-premature aging syndrome	biolink:Disease	mondo	Orphanet:363665|ICD10:E34.8|OMIM:601812|MESH:C536653|UMLS:C1866182|GARD:0004498|GARD:0004276	gard_rare|ordo_disease	premature aging syndrome Penttinen type|premature aging syndrome, Penttinen type; PENTT|PENTT|premature aging syndrome, Penttinen type|progeroid syndrome, Penttinen type|prematurely aged appearance, delayed bone maturation, acro-osteolysis, and brachydactyly|Penttinen-aula syndrome	http://purl.obolibrary.org/obo/MONDO_0011150		http://identifiers.org/omim/601812|ORPHA:363665|MESH:C536653|UMLS:C1866182
MONDO:0011153	hyperinsulinemic hypoglycemia, familial, 2	biolink:Disease	mondo	OMIM:601820|DOID:0070218|GARD:0009927|UMLS:C2931833	gard_rare	hyperinsulinemic hypoglycemia due to Kir6.2 deficiency|KCNJ11 hyperinsulinemic hypoglycemia (disease)|hyperinsulinemic hypoglycemia (disease) caused by mutation in KCNJ11|hyperinsulinemic hypoglycemia familial 2|hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia|hyperinsulinism, congenital|hyperinsulinism, neonatal|hyperinsulinemic hypoglycemia, familial, 2; HHF2|HHF2|hyperinsulinemic hypoglycemia, familial, 2|hyperinsulinemic hypoglycemia, persistent|hyperinsulinemic hypoglycemia, familial, type 2|Nesidioblastosis|hyperinsulinism, familial|persistent hyperinsulinemic hypoglycemia of infancy	http://purl.obolibrary.org/obo/MONDO_0011153	Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene.	UMLS:C2931833|DOID:0070218|http://identifiers.org/omim/601820
MONDO:0011152	PHGDH deficiency	biolink:Disease	mondo	MESH:C566618|ICD10:E72.8|UMLS:C1866174|Orphanet:79351|DOID:0050722|OMIM:601815	ordo_disease	PHOSPHOGLYCERATE dehydrogenase deficiency; PHGDHD|3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form|PHOSPHOGLYCERATE dehydrogenase deficiency|PHGDHD|PHGDH deficiency	http://purl.obolibrary.org/obo/MONDO_0011152	3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form	http://identifiers.org/omim/601815|MESH:C566618|DOID:0050722|ORPHA:79351|UMLS:C1866174
MONDO:0023122	familial prostate carcinoma	biolink:Disease	mondo	SCTID:715412008|NCIT:C103817|GARD:0004520|UMLS:CN036094|Orphanet:1331|OMIM:176807|GTR:AN0101369|GTR:AN0101368|UMLS:C2931456	gard_rare	familial prostate cancer|prostate cancer, familial|hereditary prostate carcinoma|prostate cancer, hereditary|hereditary prostate cancer|hereditary prostate cancer	http://purl.obolibrary.org/obo/MONDO_0023122	Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma.	UMLS:CN036094|UMLS:C2931456|http://identifiers.org/omim/176807|MESH:C537243|ORPHA:1331|SNOMEDCT:715412008|NCIT:C103817
GO:1990266	neutrophil migration	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1990266	The movement of a neutrophil within or between different tissues and organs of the body.	
CHEBI:78616	carbohydrates and carbohydrate derivatives	biolink:ChemicalSubstance	mondo			carbohydrates and derivatives|carbohydrates and their derivatives	http://purl.obolibrary.org/obo/CHEBI_78616	Any organooxygen compound that is a polyhydroxy-aldehyde or -ketone, or a compound derived from one. Carbohydrates contain only carbon, hydrogen and oxygen and usually have an empirical formula Cm(H2O)n; carbohydrate derivatives may contain other elements by substitution or condensation.	
MONDO:0023124	familial pulmonary arterial hypertension leucopenia and atrial septal defect	biolink:Disease	mondo	GARD:0010455	gard_rare	familial PAH, leucopenia and ASD|familial pulmonary arterial hypertension, leucopenia and ASD	http://purl.obolibrary.org/obo/MONDO_0023124		
MONDO:0023129	Fara Chlupackova syndrome	biolink:Disease	mondo	GARD:0002273|MESH:C537074|UMLS:C2931416	gard_rare	familial oto-facio-cervical dysmorphia	http://purl.obolibrary.org/obo/MONDO_0023129		UMLS:C2931416|MESH:C537074
MONDO:0023121	familial partial paralysis	biolink:Disease	mondo	MEDGEN:447610|GTR:AN0100894|GARD:0008607|UMLS:CN035928	gard_rare	partial paralysis, familial	http://purl.obolibrary.org/obo/MONDO_0023121		UMLS:CN035928
MONDO:0011144	neuronal ceroid lipofuscinosis 6	biolink:Disease	mondo	OMIM:601780|MESH:C566627|DOID:0110729|Orphanet:228363|ICD10:E75.4|GARD:0001224	ordo_etiological_subtype|clingen|gard_rare	CLN6 disease, adult Kufs type A (subtype)|neuronal ceroid lipofuscinosis type 6|late infantile neuronal ceroid lipofuscinosis caused by mutation in CLN6|ceroid lipofuscinosis, neuronal, 6, variable Age at onset|CLN6|neuronal ceroid lipofuscinosis, late infantile, variant|ceroid lipofuscinosis, neuronal, 6|CLN6 disease, late infantile (subtype)|neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant|ceroid lipofuscinosis, neuronal, 6; CLN6|CLN6 disease|ceroid lipofuscinosis, neuronal, type 6|neuronal ceroid lipofuscinosis 6 variable age of onset|CLN6 late infantile neuronal ceroid lipofuscinosis	http://purl.obolibrary.org/obo/MONDO_0011144	Neuronal ceroid lipofuscinosis 6 (CLN6-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes (mutations) in the CLN6 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.	DOID:0110729|ORPHA:228363|http://identifiers.org/omim/601780|MESH:C566627
MONDO:0011143	cone-rod dystrophy 6	biolink:Disease	mondo	UMLS:C1866293|MESH:C538363|DOID:0111011|GARD:0010656|OMIM:601777		CORD6|cone-rod dystrophy 6; CORD6|cone-rod dystrophy type 6|cone-rod dystrophy 6|cone-rod dystrophy caused by mutation in GUCY2D|GUCY2D cone-rod dystrophy|RCD2|retinal cone dystrophy 2	http://purl.obolibrary.org/obo/MONDO_0011143	Any cone-rod dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.	MESH:C538363|http://identifiers.org/omim/601777|DOID:0111011|UMLS:C1866293
MONDO:0011146	tetrasomy 12p	biolink:Disease	mondo	MESH:C538105|NCIT:C75458|OMIM:601803|SCTID:9527009|ICD9:758.81|GARD:0008421|UMLS:C0265449|ICD10:Q99.8|Orphanet:884	ordo_malformation_syndrome	Pallister mosaic syndrome|Hexasomy 12P, Mosaic|Killian syndrome|Pallister-Killian mosaic syndrome|tetrasomy 12P, Mosaic|Isochromosome 12p syndrome|Isochromosome 12p mosaicism|Isochromosome 12P syndrome|tetrasomy type 12p|PKS|Pallister-Killian syndrome; PKS|Pallister Killian syndrome|Pallister-Killian syndrome|Killian Teschler-Nicola syndrome|chromosome 12, Isochromosome 12p syndrome|Teschler-Nicola Killian syndrome	http://purl.obolibrary.org/obo/MONDO_0011146	Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p.	SNOMEDCT:9527009|MESH:C538105|http://identifiers.org/omim/601803|UMLS:C0265449|NCIT:C75458|ORPHA:884
MONDO:0011145	colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome	biolink:Disease	mondo	ICD10:Q87.8|UMLS:C1866256|OMIM:601794|MESH:C566623|Orphanet:363741	ordo_disease	coloboma-obesity-hypogenitalism-intellectual disability syndrome|coloboma-obesity-hypogenitalism-mental retardation syndrome	http://purl.obolibrary.org/obo/MONDO_0011145		UMLS:C1866256|http://identifiers.org/omim/601794|ORPHA:363741|MESH:C566623
MONDO:0011148	Spondylospinal thoracic dysostosis	biolink:Disease	mondo	OMIM:601809|GARD:0010571|MESH:C566622|UMLS:C1866184	gard_rare	spondylospinal thoracic dysostosis	http://purl.obolibrary.org/obo/MONDO_0011148	Spondylospinal thoracic dysostosis is an extremely rare skeletal disorder characterized bya short, curved spine and fusion of the spinous processes, short thorax with 'crab-like' configuration of the ribs, underdevelopment of the lungs (pulmonary hypoplasia), severe arthrogryposis and multiple pterygia (webbing of the skin across joints), and underdevelopment of the bones of the mouth.This condition is believed to be inherited in an autosomal recessive manner.It does notappear to be compatible with life.	UMLS:C1866184|http://identifiers.org/omim/601809|MESH:C566622
MONDO:0011147	chromosome 18q deletion syndrome	biolink:Disease	mondo	ICD10:Q93.5|Orphanet:1600|OMIM:601808|NCIT:C84522|GARD:0010866|DOID:0060407|UMLS:C0432443|SCTID:270889005|MESH:C536580|ICD9:758.39	ordo_malformation_syndrome	proximal chromosome 18q deletion syndrome|proximal 18q deletion|proximal 18q-|deletion 18q syndrome|18Q- syndrome|proximal 18q deletion syndrome|monosomy type 18q|monosomy 18q|18Q syndrome|deletion 18q|chromosome 18q deletion syndrome|18q-syndrome|chromosome 18Q- syndrome|18q- syndrome|monosomy 18q syndrome|18q deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0011147	A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts.	UMLS:C0432443|UMLS:C2931249|DOID:0060407|NCIT:C84522|http://identifiers.org/omim/601808|ORPHA:1600|MESH:C536580|SNOMEDCT:270889005
MONDO:0011149	premature aging syndrome, Okamoto type	biolink:Disease	mondo	GARD:0004478|UMLS:C1866183|OMIM:601811|MESH:C566621		premature aging Okamoto type|premature aging syndrome with osteosarcoma cataracts diabetes osteoporosis erythroid macrocytosis severe developmental delay|premature aging syndrome, Okamoto type	http://purl.obolibrary.org/obo/MONDO_0011149		UMLS:C1866183|http://identifiers.org/omim/601811|MESH:C566621
BFO:0000066	occurs in	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BFO_0000066	b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t	
MONDO:0023119	familial myelofibrosis	biolink:Disease	mondo	UMLS:C2931351|GARD:0008516|MESH:C536848	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023119		MESH:C536848|UMLS:C2931351
BFO:0000067	contains process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BFO_0000067	[copied from inverse property 'occurs in'] b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t	
MONDO:0011140	benign familial neonatal-infantile seizures	biolink:Disease	mondo	Orphanet:140927|MedDRA:10067866|GARD:0001518|ICD10:G40.4	ordo_disease|gard_rare	seizures, benign familial infantile, 1|BFIS1|benign familial infantile convulsions|convulsions benign familial neonatal|convulsions, benign familial infantile, 1|BFNIS|benign neonatal-infantile epilepsy|seizures, benign familial infantile, 1; BFIS1|epilepsy, benign neonatal-infantile	http://purl.obolibrary.org/obo/MONDO_0011140	Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS). So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant.	MEDDRA:10067866|ORPHA:140927
BFO:0000062	preceded by	biolink:OntologyClass	mondo			is preceded by|takes place after	http://purl.obolibrary.org/obo/BFO_0000062	X preceded_by Y iff: end(Y) before_or_simultaneous_with start(X)	
BFO:0000063	precedes	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BFO_0000063	x precedes y if and only if the time point at which x ends is before or equivalent to the time point at which y starts. Formally: x precedes y iff ω(x) <= α(y), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point.	
MONDO:0011142	Ehlers-Danlos syndrome, musculocontractural type	biolink:Disease	mondo	GARD:0008486|ICD10:Q79.6|SCTID:720860004|GARD:0000545|Orphanet:2953|MESH:C000600608	ordo_disease	Dundar syndrome|EDS, arthrogryposic type|Ehlers-Danlos syndrome, musculocontractural type, 1; EDSMC1|Ehlers-Danlos syndrome, musculocontractural type 1; EDSMC1|D4ST1-deficient Ehlers-Danlos syndrome|adducted thumb clubfoot syndrome|adducted thumb, clubfoot, and progressive joint and skin laxity syndrome|Ehlers-Danlos syndrome, musculocontractural type 1|EDSMC1|Ehlers-Danlos syndrome, type Vib, formerly|adducted thumbs Dundar type|EDS, Kosho type|CHST14-related Ehlers-Danlos syndrome|CHST14-related EDS|Ehlers-Danlos syndrome, type Vib|Ehlers-Danlos syndrome, Kosho type|musculocontractural Ehlers-Danlos syndrome|D4ST1-deficient EDS|EDS, musculocontractural type|Ehlers-Danlos syndrome, musculocontractural type, 1|adducted thumb-club foot syndrome|EDSMC|arthrogryposis, distal, with peculiar facies and hydronephrosis|EDSmc|adducted thumb-clubfoot syndrome|MCEDS|ATCS|musculocontractural EDS|autosomal recessive adducted thumb-club foot syndrome|EDS6B, formerly|adducted thumbs-arthrogryposis syndrome, Dundar type|Ehlers-Danlos syndrome, type VIB, formerly|Ehlers-Danlos syndrome, arthrogryposic type	http://purl.obolibrary.org/obo/MONDO_0011142	Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations.	http://identifiers.org/omim/601776|ORPHA:2953|SNOMEDCT:720860004|MESH:C000600608
MONDO:0011141	folate level in erythrocytes	biolink:Disease	mondo	OMIM:601775		folate level in erythrocytes	http://purl.obolibrary.org/obo/MONDO_0011141		http://identifiers.org/omim/601775
MONDO:0023199	frontonasal dysplasia phocomelic upper limbs	biolink:Disease	mondo	GARD:0002395	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023199		
BFO:0000019	quality	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BFO_0000019		
NCBITaxon:13203	Phlebotomus <genus>	organism taxon	mondo	GC_ID:1|PMID:9835021		Phlebotomus	http://purl.obolibrary.org/obo/NCBITaxon_13203		
BFO:0000015	process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BFO_0000015	p is a process = Def. p is an occurrent that has temporal proper parts and for some time t, p s-depends_on some material entity at t. (axiom label in BFO2 Reference: [083-003])	
BFO:0000016	disposition	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BFO_0000016		
BFO:0000017	realizable entity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BFO_0000017	A specifically dependent continuant  that inheres in continuant  entities and are not exhibited in full at every time in which it inheres in an entity or group of entities. The exhibition or actualization of a realizable entity is a particular manifestation, functioning or process that occurs under certain circumstances.	
MONDO:0023191	Freire-Maia odontotrichomelic syndrome	biolink:Disease	mondo	UMLS:C2930960|GARD:0002381|MESH:C535637	gard_rare	odontotrichomelic hypohidrotic dysplasia	http://purl.obolibrary.org/obo/MONDO_0023191		MESH:C535637|UMLS:C2930960
MONDO:0023193	Friedman Goodman syndrome	biolink:Disease	mondo	GARD:0002387	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023193		
MONDO:0023194	frints de Smet Fabry Fryns syndrome	biolink:Disease	mondo	GARD:0001680|MESH:C538062	gard_rare	Symbrachydactyly of the hand and foot	http://purl.obolibrary.org/obo/MONDO_0023194		MESH:C538062
HGNC:20193	HFM1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20193		
HGNC:20194	POLR1C	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20194		
MONDO:0023196	frontonasal malformation cloacal exstrophy	biolink:Disease	mondo	GARD:0002389	gard_rare	fronto nasal malformation cloacal exstrophy	http://purl.obolibrary.org/obo/MONDO_0023196		
MONDO:0023197	frontonasal dysplasia Klippel feil syndrome	biolink:Disease	mondo	GARD:0002394	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023197		
HGNC:20197	SLC35C1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20197		
MONDO:0023188	Freiberg disease	biolink:Disease	mondo	MESH:C535636|SCTID:28466007|UMLS:C0264099|GARD:0002380	gard_rare	Freiberg-Kohler syndrome|Freiberg's disease|second metatarsal osteochondrosis|Freiberg's infraction|Osteochondrosis of the metatarsal head, usually the second|Kohler's second disease	http://purl.obolibrary.org/obo/MONDO_0023188	Freiberg's disease is rare condition that primarily affects the second or third metatarsal (the long bones of the foot). Although people of all ages can be affected by this condition, Freiberg's disease is most commonly diagnosed during adolescence through the second decade of life. Common signs and symptoms include pain and stiffness in the front of the foot, which often leads to a limp. Affected people may also experience swelling, limited range of motion, and tenderness of the affected foot. Symptoms are generally triggered by weight-bearing activities, including walking. The exact underlying cause of Freiberg's disease is currently unknown. Treatment depends on many factors, including the severity of condition; the signs and symptoms present; and the age of the patient.	SNOMEDCT:28466007|UMLS:C0264099|MESH:C535636
NCBITaxon:39824	Klebsiella granulomatis	organism taxon	mondo	GC_ID:11|PMID:10555350		Encapsulatus inguinalis|Donovania granulomatis|Calymmatobacterium granulomatis	http://purl.obolibrary.org/obo/NCBITaxon_39824		
BFO:0000004	independent continuant	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BFO_0000004	b is an independent continuant = Def. b is a continuant which is such that there is no c and no t such that b s-depends_on c at t. (axiom label in BFO2 Reference: [017-002])	
BFO:0000006	spatial region	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BFO_0000006		
MONDO:0023180	fragile X syndrome type 3	biolink:Disease	mondo	GARD:0002368	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023180		
MONDO:0023182	Franceschini Vardeu Guala syndrome	biolink:Disease	mondo	UMLS:C2931463|GARD:0002371|MESH:C537272	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023182		UMLS:C2931463|MESH:C537272
MONDO:0023186	Fraser Jequier Chen syndrome	biolink:Disease	mondo	GARD:0002373|UMLS:C2930912|MESH:C535481	gard_rare	chondrodysplasia, situs inversus totalis, cleft epiglottis and larynx, hexadactyly of hands and feet, pancreatic cystic dysplasia, renal dysplasia/abs	http://purl.obolibrary.org/obo/MONDO_0023186		MESH:C535481|UMLS:C2930912
NCBITaxon:27841	Echinostomata	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_27841		
BFO:0000001	entity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BFO_0000001		
BFO:0000002	continuant	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BFO_0000002	An entity that exists in full at any time in which it exists at all, persists through time while maintaining its identity and has no temporal parts.	
MONDO:0035117	PUM1-associated developmental disability-ataxia-seizure syndrome	biolink:Disease	mondo	Orphanet:589515	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0035117		ORPHA:589515
BFO:0000003	occurrent	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BFO_0000003	An entity that has temporal parts and that happens, unfolds or develops through time.	
GO:1990204	oxidoreductase complex	biolink:OntologyClass	mondo			redox complex|oxidation-reduction complex	http://purl.obolibrary.org/obo/GO_1990204	Any protein complex that possesses oxidoreductase activity.	
MONDO:0023178	fragile X syndrome type 1	biolink:Disease	mondo	GARD:0002366	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023178		
MONDO:0023179	fragile X syndrome type 2	biolink:Disease	mondo	GARD:0002367	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023179		
HGNC:19185	FRAS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19185		
HGNC:19181	KIF14	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19181		
MONDO:0023170	focal or multifocal malformations in neuronal migration	biolink:Disease	mondo	GARD:0002350	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023170		
MONDO:0023171	foix chavany Marie syndrome	biolink:Disease	mondo	UMLS:C2931412|Orphanet:2048|SCTID:720956003|MESH:C537069|GARD:0002351	gard_rare	facio-pharyngo-glosso-masticatory diplegia|facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation|congenital Foix-Chavany-Marie syndrome (subtype)|opercular syndrome, anterior|foix chavany Marie syndrome|anterior opercular syndrome|bilateral anterior opercular syndrome|facio-Labio-pharyngo-Glosso-laryngo-brachial paralysis|pseudobulbar paralysis, cortical type|congenital Foix-Chavany-Marie syndrome	http://purl.obolibrary.org/obo/MONDO_0023171	Foix-Chavany-Marie syndrome (FCMS) is a cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved.	MESH:C537069|UMLS:C2931412|SNOMEDCT:720956003|ORPHA:2048
MONDO:0023174	obsolete follicular lymphoreticuloma	biolink:Disease	mondo	GARD:0002357	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023174		
MONDO:0023175	Fontaine farriaux blanckaert syndrome	biolink:Disease	mondo	GARD:0002358	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023175		
MONDO:0023176	formaldehyde poisoning	biolink:Disease	mondo	MESH:C537268|GARD:0002361	gard_rare	Formalin intoxication|formaldehyde exposure|formaldehyde toxicity|Formalin toxicity	http://purl.obolibrary.org/obo/MONDO_0023176		MESH:C537268
MONDO:0035122	GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder	biolink:Disease	mondo	Orphanet:589547	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0035122		ORPHA:589547
MONDO:0011199	nephropathy, progressive tubulointerstitial, with cholestatic liver disease	biolink:Disease	mondo	OMIM:602114|MESH:C566573|UMLS:C1865831		nephropathy, progressive tubulointerstitial, with cholestatic liver disease	http://purl.obolibrary.org/obo/MONDO_0011199		MESH:C566573|http://identifiers.org/omim/602114|UMLS:C1865831
MONDO:0035121	myeloid/lymphoid neoplasm associated with JAK2 rearrangement	biolink:Disease	mondo	Orphanet:589542	ordo_disease	myeloid/lymphoid neoplasms with PCM1-JAK2	http://purl.obolibrary.org/obo/MONDO_0035121		ORPHA:589542
MONDO:0011198	spondyloepimetaphyseal dysplasia, Missouri type	biolink:Disease	mondo	Orphanet:93356|OMIM:602111|DOID:0080030|GARD:0010618|ICD10:Q77.7|SCTID:719171005	ordo_disease|gard_rare	metaphyseal anadysplasia 1|spondyloepimetaphyseal dysplasia type 2|spondyloepimetaphyseal dysplasia Missouri type|SEMD type 2|spondyloepimetaphyseal dysplasia, Missouri type|Missouri type of spondyloepimetaphyseal dysplasia|SEMD, Missouri type|SEMD Missouri type	http://purl.obolibrary.org/obo/MONDO_0011198	Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.	DOID:0080030|SNOMEDCT:719171005|http://identifiers.org/omim/602111|ORPHA:93356
HP:0000496	Abnormality of eye movement	biolink:PhenotypicFeature	mondo	UMLS:C0497202|SNOMEDCT_US:103252009	hposlim_core	Eye movement issue|Abnormal eye movement|Abnormal extraocular movement|Eye movement abnormalities|Abnormal ocular movements|Abnormal movement of the globe of the eye|Abnormal extraocular movements|Ocular movement abnormalities|Oculomotor abnormalities|Abnormal eye movements|Abnormality of eye movement|Abnormal motility of the globe of the eye|Abnormal eye motility	http://purl.obolibrary.org/obo/HP_0000496	An abnormality in voluntary or involuntary eye movements or their control.	
HP:0000499	Abnormal eyelash morphology	biolink:PhenotypicFeature	mondo	UMLS:C2675111	hposlim_core	Eyelash abnormality|Abnormal eyelashes|Abnormality of the eyelashes	http://purl.obolibrary.org/obo/HP_0000499	An abnormality of the eyelashes.	
MONDO:0011191	capillary infantile hemangioma	biolink:Disease	mondo	Orphanet:91415|MESH:C535860|OMIM:602089|UMLS:C1865871		hemangioma, capillary infantile|hemangioma, hereditary capillary|HCI	http://purl.obolibrary.org/obo/MONDO_0011191		MESH:C535860|http://identifiers.org/omim/602089|UMLS:C1865871|ORPHA:91415
MONDO:0011190	nephronophthisis 2	biolink:Disease	mondo	UMLS:C1865872|MESH:C566582|Orphanet:93591|OMIM:602088|DOID:0111113		INVS nephronophthisis (disease)|nephronophthisis 2; NPHP2|nephronophthisis 2|Nph2|nephronophthisis (disease) caused by mutation in INVS|infantile nephronophthisis 2|nephronophthisis type 2|NPH2|NPHP2	http://purl.obolibrary.org/obo/MONDO_0011190	Any nephronophthisis in which the cause of the disease is a mutation in the INVS gene.	MESH:C566582|DOID:0111113|http://identifiers.org/omim/602088|UMLS:C1865872|ORPHA:93591
MONDO:0011193	cone dystrophy 3	biolink:Disease	mondo	UMLS:C1865869|OMIM:602093|DOID:0080314		GUCA1A cone dystrophy|cone-rod dystrophy 14|cone dystrophy type 3|cone dystrophy 3; COD3|cone dystrophy 3|COD3|cone dystrophy caused by mutation in GUCA1A|retinal cone dystrophy	http://purl.obolibrary.org/obo/MONDO_0011193	Any cone dystrophy in which the cause of the disease is a mutation in the GUCA1A gene.	DOID:0080314|http://identifiers.org/omim/602093|UMLS:C1865869
MONDO:0011192	autosomal recessive nonsyndromic deafness 18A	biolink:Disease	mondo	UMLS:C1865870|OMIM:602092|ICD10:H90.3|MESH:C566580|DOID:0110473	clingen	autosomal recessive nonsyndromic deafness type 18A|autosomal recessive nonsyndromic deafness caused by mutation in USH1C|autosomal recessive deafness 18A|deafness, autosomal recessive 18|deafness, autosomal recessive 18A; DFNB18A|deafness, autosomal recessive 18A|DFNB18A|USH1C autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 18A	http://purl.obolibrary.org/obo/MONDO_0011192	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the USH1C gene.	MESH:C566580|DOID:0110473|http://identifiers.org/omim/602092|UMLS:C1865870
MONDO:0011195	Usher syndrome type 1E	biolink:Disease	mondo	ICD10:H35.5|GARD:0005439|UMLS:C1865865|DOID:0110833|OMIM:602097	gard_rare	Usher syndrome, type 1E|USHER syndrome, type IE|USH1E|Usher syndrome type IE|USHER syndrome, type IE; USH1E	http://purl.obolibrary.org/obo/MONDO_0011195	A form of Usher syndrome type I that features a novel locus for USH1, USH1E, mapping to chromosome band 21q21. It is inherited in an autosomal recessive manner.	DOID:0110833|http://identifiers.org/omim/602097|UMLS:C1865865
HP:0000491	Keratitis	biolink:PhenotypicFeature	mondo	MSH:D007634|SNOMEDCT_US:5888003|UMLS:C0022568	hposlim_core	Corneal inflammation	http://purl.obolibrary.org/obo/HP_0000491	Inflammation of the cornea.	
MONDO:0011194	Alzheimer disease 5	biolink:Disease	mondo	ICD10:G30|MESH:C566578|DOID:0110037|OMIM:602096|UMLS:C1865868		Alzheimer disease, familial 5|Ad5|Alzheimer disease type 5|Alzheimer disease 5|Alzheimer's disease type 5|AD5|Alzheimer's disease 5|Alzheimer disease, familial, 5	http://purl.obolibrary.org/obo/MONDO_0011194		MESH:C566578|DOID:0110037|http://identifiers.org/omim/602096|UMLS:C1865868
BFO:0000030	object	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BFO_0000030		
BFO:0000031	generically dependent continuant	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BFO_0000031	b is a generically dependent continuant = Def. b is a continuant that g-depends_on one or more other entities. (axiom label in BFO2 Reference: [074-001])	
MONDO:0011197	hereditary thermosensitive neuropathy	biolink:Disease	mondo	UMLS:C1865856|ICD10:G60.0|MESH:C566575|Orphanet:84093|SCTID:715645004|OMIM:602107	ordo_disease	neuropathy, hereditary thermosensitive	http://purl.obolibrary.org/obo/MONDO_0011197	Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy.	MESH:C566575|ORPHA:84093|SNOMEDCT:715645004|http://identifiers.org/omim/602107|UMLS:C1865856
MONDO:0035124	linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies	biolink:Disease	mondo	Orphanet:589608	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0035124		ORPHA:589608
HGNC:19189	DOCK6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19189		
MONDO:0011196	amyotrophic lateral sclerosis type 5	biolink:Disease	mondo	MESH:C566576|UMLS:C1865864|DOID:0060197|OMIM:602099|GARD:0010503	gard_rare	amyotrophic lateral sclerosis caused by mutation in SPG11|amyotrophic lateral sclerosis 5|amyotrophic lateral sclerosis 5, juvenile|ALS5|amyotrophic lateral sclerosis 5, juvenile; ALS5|SPG11 amyotrophic lateral sclerosis	http://purl.obolibrary.org/obo/MONDO_0011196	Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SPG11 gene.	MESH:C566576|DOID:0060197|http://identifiers.org/omim/602099|UMLS:C1865864
HP:0000492	Abnormal eyelid morphology	biolink:PhenotypicFeature	mondo	UMLS:C4021803	hposlim_core	Abnormality of the eyelid|Abnormality of the eyelids	http://purl.obolibrary.org/obo/HP_0000492	An abnormality of the eyelids.	
MONDO:0023167	focal alopecia congenital megalencephaly	biolink:Disease	mondo	GARD:0002349	gard_rare		http://purl.obolibrary.org/obo/MONDO_0023167		
NCBITaxon:209	Helicobacter	organism taxon	mondo	PMID:29034857|PMID:11156001|GC_ID:11|PMID:17329766|PMID:1704793|PMID:15143020			http://purl.obolibrary.org/obo/NCBITaxon_209		
HGNC:20188	DNAAF2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20188		
HGNC:19194	HMCN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19194		
UBERON:5002544	digit plus metapodial segment	biolink:AnatomicalEntity	mondo			digit ray|digit ( phalanges plus metapodial) plus soft tissue|digit|digit digitopodial subdivision	http://purl.obolibrary.org/obo/UBERON_5002544	A subdivision of the autopod consisting of digit plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis.	
BFO:0000029	site	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BFO_0000029		
HGNC:19190	DOCK7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19190		
HGNC:19191	DOCK8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19191		
MONDO:0023161	viral myocarditis	biolink:Disease	mondo	SCTID:89141000|NCIT:C128381|UMLS:C0276138		Viral myocarditis|Viral Myocarditis|viral myocarditis	http://purl.obolibrary.org/obo/MONDO_0023161	Myocarditis that is caused by an infection with a viral agent.	NCIT:C128381|UMLS:C0276138|SNOMEDCT:89141000
MONDO:0023164	viral pericarditis	biolink:Disease	mondo	SCTID:70189005|UMLS:C0276139|NCIT:C128405		Viral pericarditis|viral pericarditis|Viral Pericarditis	http://purl.obolibrary.org/obo/MONDO_0023164	Pericarditis that is caused by an infection with a viral agent.	SNOMEDCT:70189005|NCIT:C128405|UMLS:C0276139
MONDO:0023165	florid cystic endosalpingiosis of the uterus	biolink:Disease	mondo	MESH:C537064|UMLS:C2931410|GARD:0000130	gard_rare	intramural florid cystic endosalpingiosis of the uterus|florid cystic endosalpingiosis|intramural florid cystic endosalpingiosis in lower uterine segment of the uterus|cystic endosalpingiosis of the uterus	http://purl.obolibrary.org/obo/MONDO_0023165		MESH:C537064|UMLS:C2931410
MONDO:0011188	arrhythmogenic right ventricular dysplasia 3	biolink:Disease	mondo	DOID:0110072|OMIM:602086|MESH:C566584|ICD10:I42.8|UMLS:C1865882		ARVD3|ARVC3|arrhythmogenic right ventricular dysplasia type 3|arrhythmogenic right ventricular dysplasia, familial, 3|arrhythmogenic right ventricular dysplasia, familial, 3; ARVD3|arrhythmogenic right ventricular cardiomyopathy 3|familial arrhythmogenic right ventricular dysplasia 3	http://purl.obolibrary.org/obo/MONDO_0011188	An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22.	MESH:C566584|DOID:0110072|http://identifiers.org/omim/602086|UMLS:C1865882
MONDO:0035133	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	biolink:Disease	mondo	Orphanet:589905	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0035133		ORPHA:589905
MONDO:0011187	polydactyly, postaxial, type A2	biolink:Disease	mondo	UMLS:C1865883|MESH:C566585|OMIM:602085		polydactyly, postaxial, type A2|polydactyly, postaxial, type A2; PAPA2|PAPA2|postaxial polydactyly, type A2	http://purl.obolibrary.org/obo/MONDO_0011187		MESH:C566585|http://identifiers.org/omim/602085|UMLS:C1865883
MONDO:0011189	arrhythmogenic right ventricular dysplasia 4	biolink:Disease	mondo	DOID:0110073|OMIM:602087|MESH:C566583|ICD10:I42.8|UMLS:C1865881		arrhythmogenic right ventricular dysplasia type 4|arrhythmogenic right ventricular dysplasia, familial, 4|arrhythmogenic right ventricular dysplasia, familial, 4; ARVD4|arrhythmogenic right ventricular cardiomyopathy 4|fanilial arrhythmogenic right ventricular dysplasia 4|ARVD4|ARVC4	http://purl.obolibrary.org/obo/MONDO_0011189	An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3.	MESH:C566583|DOID:0110073|http://identifiers.org/omim/602087|UMLS:C1865881
MONDO:0011180	broad terminal phalanges, familial	biolink:Disease	mondo	MESH:C566588|UMLS:C1865923|OMIM:602071		broad terminal phalanges, familial	http://purl.obolibrary.org/obo/MONDO_0011180		MESH:C566588|http://identifiers.org/omim/602071|UMLS:C1865923
NCBITaxon:27829	Strongyloidea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_27829		
BFO:0000023	role	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BFO_0000023	A realizable entity  the manifestation of which brings about some result or end that is not essential to a continuant  in virtue of the kind of thing that it is but that can be served or participated in by that kind of continuant  in some kinds of natural, social or institutional contexts.	
MONDO:0011182	trimethylaminuria (disease)	biolink:Disease	mondo	HP:0003614|GARD:0006447|SCTID:237959005|DOID:0080361|OMIM:602079|MESH:C536561|UMLS:C0342739		fish malodor syndrome|TMAU|trimethylaminuria|fish-odor syndrome|trimethylaminuria; TMAU|stale fish syndrome|fish odor syndrome|TMAuria	http://purl.obolibrary.org/obo/MONDO_0011182		DOID:0080361|SNOMEDCT:237959005|MESH:C536561|UMLS:C0342739|http://identifiers.org/omim/602079
BFO:0000024	fiat object	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BFO_0000024		
MONDO:0011181	fibrosis of extraocular muscles, congenital, 2	biolink:Disease	mondo	UMLS:C1865915|MESH:C566587|OMIM:602078		fibrosis of extraocular muscles, congenital, type 2|congenital fibrosis of extraocular muscles caused by mutation in PHOX2A|Feom2 locus|fibrosis of extraocular muscles, congenital, 2|fibrosis of extraocular muscles, congenital, autosomal recessive|fibrosis of extraocular muscles, congenital, 2; CFEOM2|PHOX2A congenital fibrosis of extraocular muscles|CFEOM2	http://purl.obolibrary.org/obo/MONDO_0011181	Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the PHOX2A gene.	MESH:C566587|http://identifiers.org/omim/602078|UMLS:C1865915
MONDO:0011184	childhood apraxia of speech	biolink:Disease	mondo	ICD9:315.39|GARD:0012889|Orphanet:209908|OMIM:602081|SCTID:229703009	ordo_disease	speech-language disorder-1|articulatory apraxia|speech-language disorder 1; SPCH1|developmental verbal dyspraxia|childhood apraxia of speech|speech-language disorder type 1|speech-language disorder 1|developmental verbal apraxia|SPCH1|das|speech and language disorder with orofacial dyspraxia|CAS|developmental apraxia of speech	http://purl.obolibrary.org/obo/MONDO_0011184		ORPHA:209908|SNOMEDCT:229703009|http://identifiers.org/omim/602081
MONDO:0037792	carbohydrate metabolism disease	biolink:Disease	mondo	SCTID:20957000		carbohydrate metabolic process disease|disorder of carbohydrate metabolism|disorder of carbohydrate metabolic process|disorder of carbohydrate metabolic process	http://purl.obolibrary.org/obo/MONDO_0037792	A disease that has its basis in the disruption of carbohydrate metabolic process.	SNOMEDCT:20957000
MONDO:0011183	Paget disease of bone 2, early-onset	biolink:Disease	mondo	OMIM:602080|UMLS:C4085251		Paget disease of bone 2, early-onset; PDB2|PDB2|Paget disease of bone 2, early-onset	http://purl.obolibrary.org/obo/MONDO_0011183		UMLS:C4085251|http://identifiers.org/omim/602080
MONDO:0035136	isolated melanotic schwannoma	biolink:Disease	mondo	Orphanet:590539	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0035136		ORPHA:590539
BFO:0000020	specifically dependent continuant	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BFO_0000020	A continuant that inheres in or is borne by other entities. Every instance of A requires some specific instance of B which must always be the same.	
MONDO:0011186	Usher syndrome type 1F	biolink:Disease	mondo	UMLS:C1865885|ICD10:H35.5|DOID:0110832|GARD:0010043|OMIM:602083	gard_rare	USHER syndrome, type IF|Usher syndrome type IF|USH1F|Usher syndrome, type 1F|USHER syndrome, type IF; USH1F	http://purl.obolibrary.org/obo/MONDO_0011186	A form of Usher syndrome type IF that can be caused by homozygous or compound heterozygous mutation in the protocadherin-15 gene (PCDH15) on chromosome 10q. It is inherited in an autosomal recessive manner.	DOID:0110832|http://identifiers.org/omim/602083|UMLS:C1865885
MONDO:0011185	Thiel-Behnke corneal dystrophy	biolink:Disease	mondo	UMLS:C1562894|ICD9:371.52|GARD:0009275|SCTID:417065002|Orphanet:98960|DOID:0060455|ICD10:H18.5|OMIM:602082|MESH:C535942	gard_rare|ordo_disease	corneal dystrophy honeycomb shaped|corneal dystrophy of Bowman Layer, type 2|honeycomb corneal dystrophy|corneal dystrophy, Thiel-Behnke type; CDTB|Thiel-Behnke corneal dystrophy|corneal dystrophy of the Bowman layer type 2|Thiel Behnke corneal dystrophy|corneal dystrophy, honeycomb-Shaped|curly fiber corneal dystrophy|CDB2|corneal dystrophy of Bowman layer type 2|corneal dystrophy Thiel Behnke type|TBCD|anterior limiting membrane dystrophy type 2|CDTB|corneal dystrophy honeycomb-shaped|corneal dystrophy, Thiel-Behnke type|Waardenburg-Jonker corneal dystrophy|anterior limiting membrane dystrophy type II|corneal dystrophy of Bowman layer type II	http://purl.obolibrary.org/obo/MONDO_0011185	Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment.	UMLS:C1562894|SNOMEDCT:417065002|ORPHA:98960|MESH:C535942|DOID:0060455|http://identifiers.org/omim/602082
HGNC:19286	SCYL2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19286		
HGNC:20278	NUBPL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20278		
GO:0044424	obsolete intracellular part	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0044424	OBSOLETE. Any constituent part of the living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm.	
GO:0044421	obsolete extracellular region part	biolink:OntologyClass	mondo			extracellular structure	http://purl.obolibrary.org/obo/GO_0044421	OBSOLETE. Any constituent part of the extracellular region, the space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers constituent parts of the host cell environment outside an intracellular parasite.	
GO:0044422	obsolete organelle part	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0044422	OBSOLETE. Any constituent part of an organelle, an organized structure of distinctive morphology and function. Includes constituent parts of the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, but excludes the plasma membrane.	
GO:0044420	obsolete extracellular matrix component	biolink:OntologyClass	mondo			extracellular matrix part	http://purl.obolibrary.org/obo/GO_0044420	OBSOLETE. Any constituent part of the extracellular matrix, the structure lying external to one or more cells, which provides structural support for cells or tissues; may be completely external to the cell (as in animals) or be part of the cell (as often seen in plants).	
GO:0044429	obsolete mitochondrial part	biolink:OntologyClass	mondo			mitochondrial subcomponent|mitochondrion component	http://purl.obolibrary.org/obo/GO_0044429	OBSOLETE. Any constituent part of a mitochondrion, a semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.	
GO:0044427	obsolete chromosomal part	biolink:OntologyClass	mondo			chromosome component|chromosomal component|chromosome part	http://purl.obolibrary.org/obo/GO_0044427	OBSOLETE. Any constituent part of a chromosome, a structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information.	
GO:0044428	obsolete nuclear part	biolink:OntologyClass	mondo			nuclear subcomponent|nucleus component	http://purl.obolibrary.org/obo/GO_0044428	OBSOLETE. Any constituent part of the nucleus, a membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated.	
GO:0044425	obsolete membrane part	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0044425	OBSOLETE. Any constituent part of a membrane, a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins.	
HP:0100491	Abnormality of lower limb joint	biolink:PhenotypicFeature	mondo	UMLS:C4020971		Abnormality of lower limb joint|Abnormality of the joints of the lower limbs	http://purl.obolibrary.org/obo/HP_0100491		
GO:0044433	obsolete cytoplasmic vesicle part	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0044433	OBSOLETE. Any constituent part of cytoplasmic vesicle, a vesicle formed of membrane or protein, found in the cytoplasm of a cell.	
GO:0044431	obsolete Golgi apparatus part	biolink:OntologyClass	mondo			Golgi subcomponent|Golgi component	http://purl.obolibrary.org/obo/GO_0044431	OBSOLETE. Any constituent part of the Golgi apparatus, a compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack.	
GO:0044438	obsolete microbody part	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0044438	OBSOLETE. Any constituent part of a microbody, a cytoplasmic organelle, spherical or oval in shape, that is bounded by a single membrane and contains oxidative enzymes, especially those utilizing hydrogen peroxide (H2O2).	
GO:0044439	obsolete peroxisomal part	biolink:OntologyClass	mondo			peroxisome component	http://purl.obolibrary.org/obo/GO_0044439	OBSOLETE. Any constituent part of a peroxisome, a small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules; contains some enzymes that produce and others that degrade hydrogen peroxide (H2O2).	
GO:0044437	obsolete vacuolar part	biolink:OntologyClass	mondo			vacuole component	http://purl.obolibrary.org/obo/GO_0044437	OBSOLETE. Any constituent part of a vacuole, a closed structure, found only in eukaryotic cells, that is completely surrounded by unit membrane and contains liquid material.	
HGNC:19263	LMAN2L	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19263		
HGNC:19261	MTO1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19261		
GO:0032414	positive regulation of ion transmembrane transporter activity	biolink:OntologyClass	mondo			up regulation of ion transporter activity|stimulation of ion transporter activity|up-regulation of ion transporter activity|activation of ion transporter activity|upregulation of ion transporter activity|positive regulation of ion transporter activity	http://purl.obolibrary.org/obo/GO_0032414	Any process that activates or increases the activity of an ion transporter.	
GO:0032413	negative regulation of ion transmembrane transporter activity	biolink:OntologyClass	mondo			downregulation of ion transporter activity|down regulation of ion transporter activity|inhibition of ion transporter activity|negative regulation of ion transporter activity|down-regulation of ion transporter activity	http://purl.obolibrary.org/obo/GO_0032413	Any process that stops or reduces the activity of an ion transporter.	
GO:0044445	obsolete cytosolic part	biolink:OntologyClass	mondo			cytosol component	http://purl.obolibrary.org/obo/GO_0044445	OBSOLETE. Any constituent part of cytosol, that part of the cytoplasm that does not contain membranous or particulate subcellular components.	
GO:0044446	obsolete intracellular organelle part	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0044446	OBSOLETE. A constituent part of an intracellular organelle, an organized structure of distinctive morphology and function, occurring within the cell. Includes constituent parts of the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton but excludes the plasma membrane.	
GO:0044444	obsolete cytoplasmic part	biolink:OntologyClass	mondo			cytoplasm component	http://purl.obolibrary.org/obo/GO_0044444	OBSOLETE. Any constituent part of the cytoplasm, all of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.	
GO:0044441	obsolete ciliary part	biolink:OntologyClass	mondo			flagellar part|microtubule-based flagellum part|flagellum part|cilium part|cilial part|flagellum component	http://purl.obolibrary.org/obo/GO_0044441	OBSOLETE. Any constituent part of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole.	
GO:0019438	aromatic compound biosynthetic process	biolink:OntologyClass	mondo			aromatic compound formation|aromatic compound biosynthesis|aromatic hydrocarbon biosynthesis|aromatic hydrocarbon biosynthetic process|aromatic compound anabolism|aromatic compound synthesis	http://purl.obolibrary.org/obo/GO_0019438	The chemical reactions and pathways resulting in the formation of aromatic compounds, any substance containing an aromatic carbon ring.	
GO:0044449	obsolete contractile fiber part	biolink:OntologyClass	mondo			contractile fibre component|muscle fiber component|muscle fibre component	http://purl.obolibrary.org/obo/GO_0044449	OBSOLETE. Any constituent part of a contractile fiber, a fiber composed of actin, myosin, and associated proteins, found in cells of smooth or striated muscle.	
GO:0019439	aromatic compound catabolic process	biolink:OntologyClass	mondo			aromatic compound catabolism|aromatic compound breakdown|aromatic hydrocarbon catabolism|aromatic hydrocarbon catabolic process|aromatic compound degradation	http://purl.obolibrary.org/obo/GO_0019439	The chemical reactions and pathways resulting in the breakdown of aromatic compounds, any substance containing an aromatic carbon ring.	
GO:0044448	obsolete cell cortex part	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0044448	OBSOLETE. Any constituent part of the cell cortex, the region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins.	
GO:0032412	regulation of ion transmembrane transporter activity	biolink:OntologyClass	mondo			regulation of ion transporter activity	http://purl.obolibrary.org/obo/GO_0032412	Any process that modulates the activity of an ion transporter.	
GO:0032411	positive regulation of transporter activity	biolink:OntologyClass	mondo			upregulation of transporter activity|stimulation of transporter activity|up regulation of transporter activity|up-regulation of transporter activity|activation of transporter activity	http://purl.obolibrary.org/obo/GO_0032411	Any process that activates or increases the activity of a transporter.	
GO:0032410	negative regulation of transporter activity	biolink:OntologyClass	mondo			down-regulation of transporter activity|downregulation of transporter activity|down regulation of transporter activity|inhibition of transporter activity	http://purl.obolibrary.org/obo/GO_0032410	Any process that stops or reduces the activity of a transporter.	
GO:0032409	regulation of transporter activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0032409	Any process that modulates the activity of a transporter.	
GO:0044456	obsolete synapse part	biolink:OntologyClass	mondo			synaptic component	http://purl.obolibrary.org/obo/GO_0044456	OBSOLETE. Any constituent part of a synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell.	
GO:0044454	obsolete nuclear chromosome part	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0044454	OBSOLETE. Any constituent part of a nuclear chromosome, a chromosome that encodes the nuclear genome and is found in the nucleus of a eukaryotic cell during the cell cycle phases when the nucleus is intact.	
GO:0044455	obsolete mitochondrial membrane part	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0044455	OBSOLETE. Any constituent part of a mitochondrial membrane, either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope.	
GO:0044452	obsolete nucleolar part	biolink:OntologyClass	mondo			nucleolus component	http://purl.obolibrary.org/obo/GO_0044452	OBSOLETE. Any constituent part of a nucleolus, a small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis.	
GO:0044459	obsolete plasma membrane part	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0044459	OBSOLETE. Any constituent part of the plasma membrane, the membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.	
SO:0005855	gene_group	biolink:SequenceFeature	mondo			gene group	http://purl.obolibrary.org/obo/SO_0005855	A collection of related genes.	
NCBITaxon:2509494	Merbecovirus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2509494		
HGNC:20233	COQ6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20233		
HGNC:2902	DLG3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2902		
GO:0044463	obsolete cell projection part	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0044463	OBSOLETE. Any constituent part of a cell projection, a prolongation or process extending from a cell, e.g. a flagellum or axon.	
HGNC:2909	DLL3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2909		
GO:0044464	obsolete cell part	biolink:OntologyClass	mondo			protoplast|cellular subcomponent	http://purl.obolibrary.org/obo/GO_0044464	OBSOLETE. Any constituent part of a cell, the basic structural and functional unit of all organisms.	
HGNC:2917	DLX4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2917		
HGNC:2916	DLX3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2916		
HGNC:20249	SPRED1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20249		
HGNC:2910	DLL4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2910		
HGNC:2918	DLX5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2918		
MONDO:0056797	neurodevelopmental disorder with midbrain and hindbrain malformations	biolink:Disease	mondo	OMIM:617523|DOID:0080312|UMLS:C4479613		neurodevelopmental disorder with midbrain and hindbrain malformations; NEDMHM|NEDMHM	http://purl.obolibrary.org/obo/MONDO_0056797		DOID:0080312|UMLS:C4479613|http://identifiers.org/omim/617523
MONDO:0056798	disorder of appendix	biolink:Disease	mondo	ICD9:543.9|DOID:60000|SCTID:18526009|UMLS:C0267613		appendix disease|vermiform appendix disease or disorder|vermiform appendix disease|disorder of appendix|disease of appendix|disorder of vermiform appendix|disease of vermiform appendix|disease or disorder of vermiform appendix|appendiceal disease	http://purl.obolibrary.org/obo/MONDO_0056798	A disease or disorder that involves the vermiform appendix.	SNOMEDCT:18526009|UMLS:C0267613|DOID:60000
MONDO:0056799	synovium disease	biolink:Disease	mondo	UMLS:C0263945|SCTID:3519007|ICD9:727.89|ICD9:727.9		layer of synovial tissue disease or disorder|layer of synovial tissue disease|disorder of layer of synovial tissue|disorder of synovium|disease of layer of synovial tissue|disease or disorder of layer of synovial tissue	http://purl.obolibrary.org/obo/MONDO_0056799	A disease or disorder that involves the layer of synovial tissue.	UMLS:C0263945|SNOMEDCT:3519007
MONDO:0056795	X-linked spermatogenic failure 1	biolink:Disease	mondo	DOID:0070189|OMIM:305700		spermatogenic failure, X-linked, 1|spermatogenic failure, X-linked, 1; SPGFX1|SPGFX1|Del Castillo syndrome|spermatogenic failure, X-linked, type 1|Sertoli cell-only syndrome|Germinal cell aplasia	http://purl.obolibrary.org/obo/MONDO_0056795		http://identifiers.org/omim/305700|DOID:0070189
MONDO:0056796	obstructive nephropathy	biolink:Disease	mondo	DOID:0070314|NCIT:C120902|UMLS:C0149939|SCTID:86249007|ICD9:593.89		obstructive nephropathy|congenital obstructive nephropathy	http://purl.obolibrary.org/obo/MONDO_0056796	Renal damage and impaired renal function secondary to urinary tract obstruction.	NCIT:C120902|SNOMEDCT:86249007|DOID:0070314|UMLS:C0149939
HGNC:2928	DMD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2928		
GO:0007417	central nervous system development	biolink:OntologyClass	mondo			CNS development	http://purl.obolibrary.org/obo/GO_0007417	The process whose specific outcome is the progression of the central nervous system over time, from its formation to the mature structure. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain and spinal cord. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord.	
GO:0007411	axon guidance	biolink:OntologyClass	mondo			axon growth cone guidance|axon pathfinding|axon chemotaxis	http://purl.obolibrary.org/obo/GO_0007411	The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues.	
HGNC:10889	SIX3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10889		
HGNC:10892	SIX6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10892		
HGNC:10898	SKIV2L	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10898		
HGNC:10896	SKI	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10896		
HGNC:20207	B3GLCT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20207		
HGNC:10891	SIX5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10891		
HGNC:2939	DNA2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2939		
HGNC:2938	DMXL2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2938		
HGNC:2933	DMPK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2933		
HGNC:2932	DMP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2932		
GO:0007423	sensory organ development	biolink:OntologyClass	mondo			sense organ development	http://purl.obolibrary.org/obo/GO_0007423	The process whose specific outcome is the progression of sensory organs over time, from its formation to the mature structure.	
GO:0007420	brain development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0007420	The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.).	
HGNC:2942	DNAH11	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2942		
HGNC:19237	NANS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19237		
GO:0019400	alditol metabolic process	biolink:OntologyClass	mondo			alditol metabolism	http://purl.obolibrary.org/obo/GO_0019400	The chemical reactions and pathways involving alditols, any polyhydric alcohol derived from the acyclic form of a monosaccharide by reduction of its aldehyde or keto group to an alcoholic group.	
MONDO:0017150	pulmonary arterial hypertension associated with another disease	biolink:Disease	mondo	ICD10:I27.2|Orphanet:275791|UMLS:CN202577|EFO:0009193	ordo_group_of_disorders	secondary PAH|PAH associated with another disease	http://purl.obolibrary.org/obo/MONDO_0017150	Pulmonary arterial hypertension associated with another disease is a group of conditions that lead to PAH; connective tissue diseases (lupus erythematosus, systemic sclerosis and mixed connective tissues disease), congenital heart disease (Eisenmenger syndrome), HIV infection, portal hypertension, schistosomiasis and chronic hemolytic anemia, which is characterized by elevated pulmonary arterial resistance leading to right heart failure that is progressive and potentially fatal.	ORPHA:275791|UMLS:CN202577
MONDO:0017151	pulmonary arterial hypertension associated with connective tissue disease	biolink:Disease	mondo	SCTID:697903007|ICD10:I27.2|UMLS:C3697982|EFO:0009196|Orphanet:275798|ICD9:416.8|UMLS:CN202578	ordo_group_of_disorders	PAH associated with connective tissue disease	http://purl.obolibrary.org/obo/MONDO_0017151	Pulmonary arterial hypertension (PAH) associated with connective tissue disease (PAH-CTD) is a form of pulmonary arterial hypertension (PAH) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease.	SNOMEDCT:697903007|UMLS:C3697982|ORPHA:275798|UMLS:CN202578
MONDO:0032788	cerebellar atrophy with seizures and variable developmental delay	biolink:Disease	mondo	OMIM:618501		CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY; CASVDD	http://purl.obolibrary.org/obo/MONDO_0032788		http://identifiers.org/omim/618501
MONDO:0032789	intellectual developmental disorder, autosomal recessive 71	biolink:Disease	mondo	OMIM:618504		INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71; MRT71|Mental Retardation, Autosomal Recessive 71	http://purl.obolibrary.org/obo/MONDO_0032789		http://identifiers.org/omim/618504
MONDO:0005167	fibroma	biolink:Disease	mondo	MESH:D005350|ICD9:215.9|NCIT:C3041|SCTID:424568000|DOID:0050871|ICDO:8810/0|EFO:0002424		fibroma|fibroma, benign	http://purl.obolibrary.org/obo/MONDO_0005167	A non-metastasizing neoplasm arising from the fibrous tissue. It is characterized by the presence of spindle-shaped fibroblasts.	DOID:0050871|MESH:D005350|SNOMEDCT:424568000|NCIT:C3041
MONDO:0029134	severe combined immunodeficiency due to CARMIL2 deficiency	biolink:Disease	mondo	OMIM:618131|Orphanet:542301	ordo_disease	immunodeficiency 58|immunodeficiency 58; IMD58|IMD58	http://purl.obolibrary.org/obo/MONDO_0029134		http://identifiers.org/omim/618131|ORPHA:542301
MONDO:0005166	osteoma (disease)	biolink:Disease	mondo	EFO:0002423|MESH:D010016|HP:0100246|SCTID:302858007|UMLS:C0029440|NCIT:C3296|ICDO:9180/0		osteoma|osteoma, benign	http://purl.obolibrary.org/obo/MONDO_0005166	A benign, well-circumscribed, bone-forming neoplasm predominantly composed of lamellar bone. It usually arises from the calvarial, facial, or jaw bones. It is usually asymptomatic but it may cause local swelling or obstruction of the paranasal sinuses. Asymptomatic cases have an indolent clinical course.	MESH:D010016|SNOMEDCT:302858007|UMLS:C0029440|NCIT:C3296
MONDO:0029133	muscular dystrophy, limb-girdle, autosomal dominant 4	biolink:Disease	mondo	OMIM:618129		muscular dystrophy, limb-girdle, type 1I|LGMDD4|muscular dystrophy, limb-girdle, autosomal dominant 4; LGMDD4	http://purl.obolibrary.org/obo/MONDO_0029133		http://identifiers.org/omim/618129
MONDO:0005169	neoplasm of mature T-cells or NK-cells	biolink:Disease	mondo	ONCOTREE:MTNN|UMLS:C1334640|NCIT:C27909|EFO:0002426		mature T-cell neoplasm|mature T-cell and NK-cell neoplasm|mature T and NK neoplasms	http://purl.obolibrary.org/obo/MONDO_0005169	A group of neoplasms composed of T-lymphocytes with a mature (peripheral/post-thymic) immunophenotypic profile and/or NK-cells.	NCIT:C27909|UMLS:C1334640
MONDO:0029132	Liddle syndrome 3	biolink:Disease	mondo	OMIM:618126		LIDLS3|Liddle syndrome 3; LIDLS3	http://purl.obolibrary.org/obo/MONDO_0029132		http://identifiers.org/omim/618126
MONDO:0044777	premature ovarian failure 14	biolink:Disease	mondo	UMLS:CN757793|OMIM:618014|UMLS:CN753759|GTR:AN1172965		GDF9-related primary ovarian insufficiency|premature ovarian failure 14; POF14|POF14	http://purl.obolibrary.org/obo/MONDO_0044777		UMLS:CN757793|http://identifiers.org/omim/618014|UMLS:CN753759
MONDO:0044776	premature ovarian failure 10	biolink:Disease	mondo	OMIM:612885		menopause, natural, Age At, quantitative trait locus 3|Pof10|premature ovarian failure 10; Pof10	http://purl.obolibrary.org/obo/MONDO_0044776	Premature ovarian failure-10 (POF10) represents a syndrome characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells.nnFor a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (OMIM:311360).nnFor a discussion of genetic heterogeneity of age at natural menopause, see MENOQ1 (OMIM:300488).	http://identifiers.org/omim/612885
MONDO:0029131	peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	biolink:Disease	mondo	OMIM:618124		peripheral neuropathy, autosomal recessive, with or without impaired intellectual development; PNRIID|PNRIID	http://purl.obolibrary.org/obo/MONDO_0029131		http://identifiers.org/omim/618124
MONDO:0005168	neoplasm of immature B and T cells	biolink:Disease	mondo	EFO:0002425			http://purl.obolibrary.org/obo/MONDO_0005168	A neoplasm arising from immature B and T cells	
MONDO:0005163	simian immunodeficiency virus infection	biolink:Disease	mondo	EFO:0001675		Simian immunodeficiency virus caused disease or disorder|Simian immunodeficiency virus disease or disorder|Simian immunodeficiency virus infectious disease	http://purl.obolibrary.org/obo/MONDO_0005163	An infection affecting monkeys, chimpanzees, and other non human primates caused by a HIV-like virus.	
MONDO:0029138	developmental and epileptic encephalopathy, 67	biolink:Disease	mondo	OMIM:618141		epileptic encephalopathy, early infantile, 67|EIEE67|DEE67|epileptic encephalopathy, early infantile, 67; EIEE67	http://purl.obolibrary.org/obo/MONDO_0029138		http://identifiers.org/omim/618141
CHEBI:67012	L-dopa(1-)	biolink:ChemicalSubstance	mondo			(2S)-2-amino-3-(3,4-dihydroxyphenyl)propanoate|L-dopa carboxylate	http://purl.obolibrary.org/obo/CHEBI_67012	A L-alpha-amino acid anion which is the conjugate base of L-dopa, obtained by deprotonation of the carboxy group: major species at pH 7.3.	
MONDO:0029137	deafness, autosomal dominant 74	biolink:Disease	mondo	OMIM:618140		DFNA74|deafness, autosomal dominant 74; DFNA74	http://purl.obolibrary.org/obo/MONDO_0029137		http://identifiers.org/omim/618140
MONDO:0005162	obsolete influenza infection	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005162		
MONDO:0005165	benign neoplasm	biolink:Disease	mondo	EFO:0002422|ICD9:229.8|DOID:0060072|NCIT:C3677|DOID:0060085|DOID:0060084|ICD9:210-229.99|SCTID:20376005|ICD10:D10.D36|ICDO:8000/0|ICD9:229.9		organ system benign neoplasm|cell type benign neoplasm|neoplasm (disease), benign|benign neoplasm (disease)|benign neoplasm|benign tumor|benign unclassifiable tumor|neoplasm, benign	http://purl.obolibrary.org/obo/MONDO_0005165	A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites.	SNOMEDCT:20376005|DOID:0060084|DOID:0060085|DOID:0060072|NCIT:C3677
MONDO:0029136	muscular dystrophy, limb-girdle, autosomal recessive 23	biolink:Disease	mondo	OMIM:618138|Orphanet:565837	ordo_disease	muscular dystrophy, limb-girdle, autosomal recessive 23; LGMDR23|laminin subunit alpha 2-related limb-girdle muscular dystrophy R23|LGMDR23	http://purl.obolibrary.org/obo/MONDO_0029136		http://identifiers.org/omim/618138|ORPHA:565837
MONDO:0029135	muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8	biolink:Disease	mondo	OMIM:618135		MDDGC8|muscular dystrophy, limb-girdle, autosomal recessive 24|Muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related|muscular dystrophy-dystroglycanopathy (limb-girdle), TYPE C, 8; MDDGC8	http://purl.obolibrary.org/obo/MONDO_0029135		http://identifiers.org/omim/618135
MONDO:0005164	fibrosarcoma (disease)	biolink:Disease	mondo	ONCOTREE:FIBS|DOID:3355|EFO:0002087|HP:0100244|SCTID:443250000|Orphanet:2030|ICD10:C49.9|ICD9:171.9|ICDO:8810/3|MedDRA:10016632|NCIT:C3043|GARD:0002327|UMLS:C0016057	ordo_disease|gard_rare	fibrosarcoma, malignant|malignant fibromatous neoplasm|fibrous tissue neoplasm|fibrocytic tumor|fibrosarcoma of soft tissue|fibrosarcoma|fibrosarcoma (excluding infantile fibrosarcoma)|fibrosarcoma - not infantile	http://purl.obolibrary.org/obo/MONDO_0005164	A malignant mesenchymal fibroblastic neoplasm affecting the soft tissue and bone.	DOID:3355|MEDDRA:10016632|MESH:D005354|UMLS:C0016057|SNOMEDCT:443250000|NCIT:C3043|ORPHA:2030
HGNC:10872	ST3GAL5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10872		
MONDO:0032790	neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	biolink:Disease	mondo	OMIM:618505		NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES; NEDCFSA	http://purl.obolibrary.org/obo/MONDO_0032790		http://identifiers.org/omim/618505
MONDO:0005161	human papilloma virus infection	biolink:Disease	mondo	UMLS:C0343641|SCTID:240532009|ICD9:079.4|NCIT:C27851|EFO:0001668|COHD:441788		Human papillomavirus infectious disease|Human papillomavirus caused disease or disorder|Human Papillomavirus infection|Human papilloma Virus infection|Human papillomavirus disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005161	An infectious process caused by a human papillomavirus. This infection can cause abnormal tissue growth.	UMLS:C0343641|NCIT:C27851|SNOMEDCT:240532009
MONDO:0005160	aortic aneurysm (disease)	biolink:Disease	mondo	DOID:3627|UMLS:C0265012|ICD10:I71.3|UMLS:C0003486|UMLS:C0265010|HP:0004942|ICD10:I71.1|UMLS:C1305122|ICD9:441.5|ICD9:441.6|UMLS:C0741160|EFO:0001666|SCTID:73067008|ICD10:I71.9|ICD10:I71.8|ICD9:441.3|ICD9:441.1|MP:0006278|ICD10:I71.5		aortic aneurysm|abdominal aortic aneurysm, ruptured|thoracoabdominal aortic aneurysm, ruptured|ruptured aortic aneurysm|thoracic aortic aneurysm which HAS ruptured|ruptured abdominal aortic aneurysm|ruptured thoracic aortic aneurysm|aortic aneurysm of unspecified site, ruptured|ruptured thoracoabdominal aortic aneurysm|thoracic aortic aneurysm, ruptured|ruptured thoracic aneurysm|ruptured aortic aneurysm NOS	http://purl.obolibrary.org/obo/MONDO_0005160	A ruptured aneurysm located in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta.	SNOMEDCT:73067008|NCIT:C27046|NCIT:C27198|DOID:3627|NCIT:C27299|NCIT:C26697|UMLS:C1305122|UMLS:C0003486|UMLS:C0741160|UMLS:C0265010|UMLS:C0265012
MONDO:0029130	polydactyly, postaxial, type A8	biolink:Disease	mondo	OMIM:618123		PAPA8|polydactyly, postaxial, type A8; PAPA8	http://purl.obolibrary.org/obo/MONDO_0029130		http://identifiers.org/omim/618123
MONDO:0044768	vagus nerve paraganglioma	biolink:Disease	mondo	GARD:0008620|SCTID:253030004|NCIT:C8427|EFO:1000621|UMLS:CN036786	gard_rare	vagal paraganglioma|vagus nerve paraganglioma|vagal body paraganglioma|paraganglioma of the vagus nerve|paraganglioma of vagus nerve|paraganglioma of vagal body|paraganglioma of the vagal body	http://purl.obolibrary.org/obo/MONDO_0044768	A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia.	SNOMEDCT:253030004|UMLS:CN036786|NCIT:C8427
MONDO:0044767	childhood adrenal gland pheochromocytoma	biolink:Disease	mondo	NCIT:C118822|GTR:AN0102113|GARD:0009368|GARD:9368|DOID:0070325|UMLS:CN036354		malignant childhood adrenal gland pheochromocytoma|pheochromocytoma, childhood|childhood adrenal gland pheochromocytoma	http://purl.obolibrary.org/obo/MONDO_0044767	A rare pheochromocytoma of the adrenal gland that occurs during childhood.	UMLS:CN036354|DOID:0070325|NCIT:C118822
MONDO:0020799	basal cell neoplasm	biolink:Disease	mondo	SCTID:127570002|MESH:D018295|NCIT:C3784|ICDO:8090/1		neoplasm, basal cell|basal cell tumor	http://purl.obolibrary.org/obo/MONDO_0020799	A neoplastic proliferation of basal cells in the epidermis (part of the skin) or other anatomic sites (most frequently the salivary glands). The basal cell neoplastic proliferation in the epidermis results in basal cell carcinomas. The basal cell neoplastic proliferation in the salivary glands can be benign, resulting in basal cell adenomas or malignant, resulting in basal cell adenocarcinomas.	MESH:D018295|SNOMEDCT:127570002|NCIT:C3784
MONDO:0020798	hypoparathyroidism, familial isolated, 2	biolink:Disease	mondo	OMIM:618883		hypoparathyroidism, familial isolated, 2; FIH2|FIH2|hypoparathyroidism, familial isolated, 2	http://purl.obolibrary.org/obo/MONDO_0020798		http://identifiers.org/omim/618883
MONDO:0030134	oculopharyngodistal myopathy 2	biolink:Disease	mondo	OMIM:618940		oculopharyngodistal myopathy 2|OPDM2|OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2	http://purl.obolibrary.org/obo/MONDO_0030134		http://identifiers.org/omim/618940
MONDO:0032797	myopathy, congenital, with tremor	biolink:Disease	mondo	OMIM:618524		MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM|Myogenic Tremor	http://purl.obolibrary.org/obo/MONDO_0032797		http://identifiers.org/omim/618524
MONDO:0017156	pulmonary arterial hypertension associated with chronic hemolytic anemia	biolink:Disease	mondo	ICD10:I27.2|Orphanet:275828|UMLS:C3698315|SCTID:697908003|ICD9:416.8|EFO:0009195	ordo_group_of_disorders	PAH associated with chronic hemolytic anemia	http://purl.obolibrary.org/obo/MONDO_0017156	Pulmonary arterial hypertension associated with chronic hemolytic anemia (PAH-CHA) is a form of PAH characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of chronic hemolytic anemia.	UMLS:C3698315|ORPHA:275828|SNOMEDCT:697908003
MONDO:0017157	pulmonary hypertension owing to lung disease and/or hypoxia	biolink:Disease	mondo	SCTID:697910001|UMLS:CN202580|Orphanet:275837|UMLS:C3698136|ICD10:I27.2|ICD9:416.8	ordo_group_of_disorders	PH due to lung disease and/or hypoxia|PH owing to lung disease and/or hypoxia|pulmonary hypertension due to lung disease and/or hypoxia	http://purl.obolibrary.org/obo/MONDO_0017157		UMLS:C3698136|ORPHA:275837|UMLS:CN202580|SNOMEDCT:697910001
MONDO:0032798	ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features	biolink:Disease	mondo	OMIM:618527		ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES; IKSHD	http://purl.obolibrary.org/obo/MONDO_0032798		http://identifiers.org/omim/618527
MONDO:0032795	intellectual developmental disorder 59	biolink:Disease	mondo	OMIM:618522		INTELLECTUAL DEVELOPMENTAL DISORDER 59; MRD59|Mental Retardation, Autosomal Dominant 59	http://purl.obolibrary.org/obo/MONDO_0032795		http://identifiers.org/omim/618522
MONDO:0017158	pulmonary hypertension with unclear multifactorial mechanism	biolink:Disease	mondo	Orphanet:275844	ordo_group_of_disorders	PH with unclear multifactorial mechanism	http://purl.obolibrary.org/obo/MONDO_0017158		ORPHA:275844
MONDO:0017159	syndrome with pulmonary hypertension as a major feature	biolink:Disease	mondo	UMLS:CN202581|Orphanet:275853	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0017159		ORPHA:275853|UMLS:CN202581
MONDO:0032796	hyper-ige recurrent infection syndrome 4, autosomal recessive	biolink:Disease	mondo	DOID:0080596|OMIM:618523		HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE; HIES4	http://purl.obolibrary.org/obo/MONDO_0032796		DOID:0080596|http://identifiers.org/omim/618523
MONDO:0017152	pulmonary arterial hypertension associated with congenital heart disease	biolink:Disease	mondo	UMLS:C3697119|Orphanet:275803|ICD10:I27.2|SCTID:697905000|EFO:0009054|ICD9:416.8|UMLS:CN243982	ordo_group_of_disorders	PAH associated with congenital heart disease	http://purl.obolibrary.org/obo/MONDO_0017152	Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations with left to right cardiac shunts. Eisenmenger syndrome is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity. PAH-CHD also includes mild to moderate systemic-to-pulmonary shunts with no cyanosis at rest, patients with small defects, and those with residual PAH following corrective cardiac surgery.	UMLS:C3697119|ORPHA:275803|UMLS:CN243982|SNOMEDCT:697905000
MONDO:0032793	O'Donnell-Luria-Rodan syndrome	biolink:Disease	mondo	OMIM:618512		O'Donnell-Luria-Rodan syndrome; ODLURO	http://purl.obolibrary.org/obo/MONDO_0032793		http://identifiers.org/omim/618512
MONDO:0017153	pulmonary arterial hypertension associated with HIV infection	biolink:Disease	mondo	Orphanet:275808|ICD10:I27.2|SCTID:697904001|UMLS:C3697673|ICD9:416.8|EFO:0009194	ordo_group_of_disorders	PAH associated with HIV infaction	http://purl.obolibrary.org/obo/MONDO_0017153	Pulmonary arterial hypertension (PAH) associated with HIV infection (PAH-HIV) is a form of PAH characterized by elevated pulmonary arterial resistance leading to right heart failure observed as a complication of HIV infection.	SNOMEDCT:697904001|UMLS:C3697673|ORPHA:275808
MONDO:0032794	leber congenital amaurosis 19	biolink:Disease	mondo	OMIM:618513		LEBER CONGENITAL AMAUROSIS 19; LCA19	http://purl.obolibrary.org/obo/MONDO_0032794		http://identifiers.org/omim/618513
MONDO:0017154	pulmonary arterial hypertension associated with portal hypertension	biolink:Disease	mondo	UMLS:C1868851|Orphanet:275813|ICD10:I27.2|EFO:0009197|SCTID:445237003	ordo_group_of_disorders	POPH|Portopulmonary hypertension|PAH associated with portal hypertension	http://purl.obolibrary.org/obo/MONDO_0017154	Pulmonary arterial hypertension associated with portal hypertension (PAH-PH) is a form of pulmonary arterial hypertension (PAH), characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of portal hypertension.	UMLS:C1868851|SNOMEDCT:445237003|ORPHA:275813
MONDO:0032791	Coffin-Siris syndrome 10	biolink:Disease	mondo	OMIM:618506		COFFIN-SIRIS SYNDROME 10; CSS10	http://purl.obolibrary.org/obo/MONDO_0032791		http://identifiers.org/omim/618506
MONDO:0032792	neuropathy, hereditary motor and sensory, type VIc, with optic atrophy	biolink:Disease	mondo	OMIM:618511		HMSN6C|CMT 6C|CMT6C|HMSN 6C|Charcot-Marie-Tooth Disease, Type 6C|neuropathy, hereditary motor and sensory, type VIc, with optic atrophy; HMSN6C	http://purl.obolibrary.org/obo/MONDO_0032792		http://identifiers.org/omim/618511
MONDO:0017155	pulmonary arterial hypertension associated with schistosomiasis	biolink:Disease	mondo	SCTID:697907008|ICD10:I27.2|Orphanet:275823|UMLS:C3697477|EFO:0009198|ICD9:416.8	ordo_group_of_disorders	PAH associated with schistosomiasis	http://purl.obolibrary.org/obo/MONDO_0017155	Pulmonary arterial hypertension associated with schistosomiasis (PAHS) is a form of pulmonary arterial hypertension characterized by an elevated pulmonary arterial resistance leading to right heart failure, observed as a complication of a chronic schistosomiasis.	UMLS:C3697477|ORPHA:275823|SNOMEDCT:697907008
MONDO:0017140	L1 syndrome	biolink:Disease	mondo	ICD10:Q04.8|GARD:0012524|Orphanet:275543|UMLS:CN118845	ordo_malformation_syndrome	corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome|crash syndrome|L1CAM syndrome	http://purl.obolibrary.org/obo/MONDO_0017140	L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.	UMLS:CN118845|ORPHA:275543
HGNC:20202	CACNA2D4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20202		
MONDO:0032799	mitochondrial DNA depletion syndrome 16 (hepatic type)	biolink:Disease	mondo	OMIM:618528		MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE); MTDPS16	http://purl.obolibrary.org/obo/MONDO_0032799		http://identifiers.org/omim/618528
MONDO:0020797	decompression sickness	biolink:Disease	mondo	UMLS:C0011119|ICD9:993.3|SCTID:89684003|MESH:D003665		Decompression sickness|Disease, Caisson|decompression sickness|Bends|bends|The bends|Caisson Disease|CAISSON DIS|the bends|Compressed-air disease|compressed-air disease|Rapture of the deep syndrome|Compressed air disease|Caisson disease|caisson disease|Diseases, Caisson|Decompression Sickness|Divers' palsy|divers' palsy|Divers' paralysis|Caisson Diseases|divers' paralysis|Sickness, Decompression	http://purl.obolibrary.org/obo/MONDO_0020797	A condition occurring as a result of exposure to a rapid fall in ambient pressure. Gases, nitrogen in particular, come out of solution and form bubbles in body fluid and blood. These gas bubbles accumulate in joint spaces and the peripheral circulation impairing tissue oxygenation causing disorientation, severe pain, and potentially death.	MESH:D003665|UMLS:C0011119|SNOMEDCT:89684003
MONDO:0044786	solid pseudopapillary neoplasm of the pancreas	biolink:Disease	mondo	NCIT:C37212|ONCOTREE:SPN		solid pseudopapillary tumor of the pancreas|solid pseudopapillary neoplasm of the pancreas|Frantz tumor	http://purl.obolibrary.org/obo/MONDO_0044786	A low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass. It is usually found incidentally during physical examination or it may present with abdominal discomfort and pain. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases.	NCIT:C37212
MONDO:0005178	osteoarthritis	biolink:Disease	mondo	ICD10:M19|HP:0002758|GARD:0011929|NCIT:C3293|ICD9:715.3|COHD:80180|DOID:8398|EFO:0002506|MESH:D010003		degenerative arthritis|hypertrophic arthritis|osteoarthrosis|osteoarthrosis and allied disorder|degenerative joint disease	http://purl.obolibrary.org/obo/MONDO_0005178	A noninflammatory degenerative joint disease occurring chiefly in older persons, characterised by degeneration of the articular cartilage, hypertrophy of bone at the margins and changes in the synovial membrane. It is accompanied by pain and stiffness, particularly after prolonged activity.	MESH:D010003|DOID:8398|NCIT:C3293
MONDO:0020796	Silver-Russell syndrome 1	biolink:Disease	mondo	OMIM:180860		SRS1	http://purl.obolibrary.org/obo/MONDO_0020796		http://identifiers.org/omim/180860
MONDO:0044785	desmoplastic melanoma	biolink:Disease	mondo	ONCOTREE:DESM|NCIT:C37257		desmoplastic melanoma|desmoplastic cutaneous (skin) melanoma	http://purl.obolibrary.org/obo/MONDO_0044785	A melanoma of the skin characterized by a proliferation of atypical spindled melanocytes in the dermis, in a background of abundant collagen. It usually presents as an amelanotic raised nodular lesion.	NCIT:C37257
MONDO:0005177	serous cystadenoma	biolink:Disease	mondo	NCIT:C3783|ICDO:8441/0|EFO:0002504		serous cystadenoma|serous cystoma	http://purl.obolibrary.org/obo/MONDO_0005177	A serous neoplasm in which the cysts and papillae are lined by a single layer of cells without atypia, architectural complexity or invasion.	NCIT:C3783
MONDO:0020795	Silver-Russell syndrome 5	biolink:Disease	mondo	OMIM:618908		SRS5|SILVER-RUSSELL SYNDROME 5; SRS5	http://purl.obolibrary.org/obo/MONDO_0020795		http://identifiers.org/omim/618908
MONDO:0044788	perihilar intrahepatic cholangiocarcinoma	biolink:Disease	mondo	ONCOTREE:PHCH|NCIT:C96804		perihilar ICC|perihilar cholangiocarcinoma|perihilar bile duct carcinoma|perihilar intrahepatic cholangiocarcinoma	http://purl.obolibrary.org/obo/MONDO_0044788	An intrahepatic cholangiocarcinoma that arises from the intrahepatic large bile ducts.	NCIT:C96804
MONDO:0044787	nasal cavity and paranasal sinus squamous cell carcinoma	biolink:Disease	mondo	NCIT:C68611|UMLS:C0280332		nasal cavity and paranasal sinus squamous cell carcinoma|nasal cavity and paranasal sinus squamous cell cancer	http://purl.obolibrary.org/obo/MONDO_0044787	A rare, keratinizing or non-keratinizing squamous cell carcinoma arising from the mucosal epithelium of the nasal cavity or the paranasal sinuses. It affects most often the maxillary sinus. Less frequently, it arises from the nasal cavity, ethmoid sinus, sphenoid sinus, and frontal sinus. Symptoms include nasal fullness, epistaxis, rhinorhea, pain, and paresthesia. Patients with nasal squamous cell carcinoma usually present earlier than patients with maxillary sinus carcinoma and have a better prognosis compared to the latter group.	NCIT:C68611|UMLS:C0280332
MONDO:0020794	colorectal medullary carcinoma	biolink:Disease	mondo	NCIT:C43590		colorectal medullary carcinoma	http://purl.obolibrary.org/obo/MONDO_0020794	A rare, invasive colorectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis.	NCIT:C43590
HGNC:10879	STIL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10879		
MONDO:0005179	ovarian adenoma benign	biolink:Disease	mondo	EFO:0002507			http://purl.obolibrary.org/obo/MONDO_0005179	A benign adenoma of ovary	
MONDO:0005174	acute hypotension	biolink:Disease	mondo	EFO:0002497		acute hypotension (disease)|hypotension (disease), acute	http://purl.obolibrary.org/obo/MONDO_0005174	Acute form of hypotension (disease).	
MONDO:0044782	esophageal ulcer	biolink:Disease	mondo	HP:0004791|NCIT:C26950		esophagus ulcer|esophageal ulcer|esophagus ulcer disease|ulcer disease of esophagus	http://purl.obolibrary.org/obo/MONDO_0044782	An ulcerated lesion in the esophageal wall.	NCIT:C26950
MONDO:0020793	oculopharyngodistal myopathy 1	biolink:Disease	mondo	OMIM:164310		faciooculolaryngopharyngeal myopathy with distal and respiratory involvement|oculopharyngodistal myopathy 1; OPDM1|oculopharyngodistal myopathy|OPDM1	http://purl.obolibrary.org/obo/MONDO_0020793		http://identifiers.org/omim/164310
MONDO:0044781	nephrotic syndrome of childhood - steroid sensitive	biolink:Disease	mondo	SCTID:236380004|UMLS:C0403396|NCIT:C122797		nephrotic syndrome of childhood - steroid sensitive|steroid-sensitive nephrotic syndrome|steroid-responsive nephrotic syndrome	http://purl.obolibrary.org/obo/MONDO_0044781	Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids.	SNOMEDCT:236380004|NCIT:C122797|UMLS:C0403396
MONDO:0005173	actinic keratosis (disease)	biolink:Disease	mondo	EFO:0002496|ICD10:L57.0|MESH:D055623|HP:0025127|NCIT:C3148|UMLS:C4282032|SCTID:398838000|ICD9:702.0|ICD9:702.19|UMLS:C0022602|DOID:8866		actinic (solar) keratosis|SK - solar keratosis|solar keratosis|senile keratosis|Senile keratosis|Senile hyperkeratosis|actinic keratosis	http://purl.obolibrary.org/obo/MONDO_0005173	A precancerous lesion of the skin composed of atypical keratinocytes. It is characterized by the presence of thick, scaly patches of skin. Several histologic variants have been described, including atrophic, acantholytic, and hyperkeratotic variants.	UMLS:C4282032|UMLS:C0022602|SNOMEDCT:398838000|NCIT:C3148|DOID:8866|MESH:D055623
MONDO:0020792	dwarfism with tall vertebrae	biolink:Disease	mondo	OMIM:126950	n_of_one		http://purl.obolibrary.org/obo/MONDO_0020792		http://identifiers.org/omim/126950
MONDO:0005176	benign insulitis	biolink:Disease	mondo	PMID:20545565|EFO:0002502|Wikipedia:Insulitis			http://purl.obolibrary.org/obo/MONDO_0005176	A benign form of insulitis which is an inflammation of the islets of Langerhans of the pancreas. The pancreas and in some cases the Pancreatic β-cells become infiltrated by polymorphonuclear leukocytes and infiltrated by mononuclear cells, leading to inflammation.	
MONDO:0044784	myxoma	biolink:Disease	mondo	SCTID:404082003|ONCOTREE:MYXO|NCIT:C6577		Myxoma|MYXOMA, BENIGN	http://purl.obolibrary.org/obo/MONDO_0044784	A benign soft tissue neoplasm characterized by the presence of spindle and stellate cells, lobulated growth pattern, and myxoid stroma formation.	NCIT:C6577|SNOMEDCT:404082003
MONDO:0020791	corneal dystrophy, Meesmann, 1	biolink:Disease	mondo	OMIM:122100		Meesmann Corneal Dystrophy|Corneal Dystrophy, Juvenile Epithelial, of Meesmann|CORNEAL DYSTROPHY, MEESMANN, 1; MECD1|Corneal Dystrophy, Meesmann Epithelial	http://purl.obolibrary.org/obo/MONDO_0020791		http://identifiers.org/omim/122100
MONDO:0005175	aggressive insulitis	biolink:Disease	mondo	EFO:0002498			http://purl.obolibrary.org/obo/MONDO_0005175	Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes.	
MONDO:0020790	gaze palsy, familial horizontal, with progressive scoliosis 1	biolink:Disease	mondo	OMIM:607313		Ophthalmoplegia, Progressive External, and Scoliosis|gaze palsy, familial horizontal, with progressive scoliosis 1; HGPPS1|HGPPS|gaze palsy, familial horizontal, with progressive scoliosis 1	http://purl.obolibrary.org/obo/MONDO_0020790		http://identifiers.org/omim/607313
MONDO:0044783	solid papillary breast carcinoma	biolink:Disease	mondo	ONCOTREE:SPC|NCIT:C6870		solid Papillary breast carcinoma|solid Papillary carcinoma of the breast	http://purl.obolibrary.org/obo/MONDO_0044783	A well circumscribed, low grade neoplasm that arises from the breast. It is characterized by the presence of sheets of malignant epithelial cells that are supported by fibrovascular structures. When there is an invasive component present, it is usually a mucinous carcinoma.	NCIT:C6870
MONDO:0005170	myeloid neoplasm	biolink:Disease	mondo	UMLS:C2939461|EFO:0002427|DOID:0070004|ONCOTREE:MYELOID|ICDO:9975/1|NCIT:C9290		myeloid neoplasm|myeloma|myeloid tumor|myeloid malignancy	http://purl.obolibrary.org/obo/MONDO_0005170	Proliferation of myeloid cells originating from a primitive stem cell.	DOID:0070004|UMLS:C2939461|NCIT:C9290
MONDO:0005172	skeletal system disease	biolink:Disease	mondo	EFO:0002461|SCTID:88230002|UMLS:C0263661		disorder of skeletal system|disease of bone and/or joint|disorder of skeletal system|skeletal system disease|disease or disorder of skeletal system|osteoarthropathy|disease of skeletal system|skeletal system disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005172	A disease involving the skeletal system.	UMLS:C0263661|SNOMEDCT:88230002
MONDO:0005171	obsolete chronic myeloproliferative disorder	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005171	Chronic form of myeloproliferative neoplasm.	
HGNC:10882	SIM1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10882		
MONDO:0017149	drug- or toxin-induced pulmonary arterial hypertension	biolink:Disease	mondo	Orphanet:275786|ICD10:I27.2|EFO:0009192|UMLS:C0340544	ordo_group_of_disorders	drug- or toxin-induced PAH	http://purl.obolibrary.org/obo/MONDO_0017149	Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal.	UMLS:C0340544|ORPHA:275786
HGNC:10887	SIX1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10887		
MONDO:0044778	nodular lymphocyte predominant Hodgkin lymphoma	biolink:Disease	mondo	Orphanet:86893|NCIT:C7258|MEDGEN:233758|ONCOTREE:NLPHL|UMLS:C1334968|ICD10:C81.0		nodular lymphocyte predominant Hodgkin lymphoma|NLPHL|nodular lymphocyte-predominant Hodgkin lymphoma|Hodgkin lymphoma nodular LP, NOS|Hodgkin lymphoma nodular lymphocyte predominant type, NOS|nodular lymphocyte predominant Hodgkin's lymphoma	http://purl.obolibrary.org/obo/MONDO_0044778	A monoclonal B-cell neoplasm characterized by a nodular, or a nodular and diffuse proliferation of scattered large neoplastic cells known as popcorn or lymphocyte predominant cells (LP cells)- formerly called L&H cells for lymphocytic and/or histiocytic Reed-Sternberg cell variants. The LP cells lack CD15 and CD30 in nearly all instances. Patients are predominantly male, frequently in the 30-50 year age group. Most patients present with limited stage disease (localized peripheral lymphadenopathy, stage I or II). (WHO 2008)	UMLS:C2239290|UMLS:C1334968|ORPHA:86893|NCIT:C7258
MONDO:0020789	pseudo-TORCH syndrome 1	biolink:Disease	mondo	OMIM:251290		pseudo-TORCH syndrome 1; PTORCH1|pseudo-TORCH syndrome|PTORCH1	http://purl.obolibrary.org/obo/MONDO_0020789		http://identifiers.org/omim/251290
MONDO:0020788	hypomagnesemia, seizures, and intellectual disability 2	biolink:Disease	mondo	OMIM:618314		HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2; HOMGSMR2	http://purl.obolibrary.org/obo/MONDO_0020788		http://identifiers.org/omim/618314
MONDO:0020787	hypomagnesemia, seizures, and intellectual disability 1	biolink:Disease	mondo	OMIM:616418		HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1; HOMGSMR1|HOMGSMR1	http://purl.obolibrary.org/obo/MONDO_0020787		http://identifiers.org/omim/616418
MONDO:0017145	beta-thalassemia and related diseases	biolink:Disease	mondo	ICD10:D56.1|UMLS:CN202571|Orphanet:275749	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017145		ORPHA:275749|UMLS:CN202571
MONDO:0017146	sickle cell disease and related diseases	biolink:Disease	mondo	ICD10:D57.0|Orphanet:275752|UMLS:CN202572|ICD10:D57.8|ICD10:D57.3|ICD10:D57.2|ICD10:D57.1	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017146		ORPHA:275752|UMLS:CN202572
HGNC:19218	PLCZ1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19218		
MONDO:0017147	idiopathic pulmonary arterial hypertension	biolink:Disease	mondo	MedDRA:10065151|ICD9:416.0|UMLS:CN202574|ICD10:I27.0|UMLS:C3203102|Orphanet:275766|SCTID:697898008	ordo_etiological_subtype	IPAH|primary pulmonary arterial hypertension	http://purl.obolibrary.org/obo/MONDO_0017147	Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH.	SNOMEDCT:697898008|UMLS:C3203102|ORPHA:275766|UMLS:CN202574|MEDDRA:10065151
MONDO:0017148	heritable pulmonary arterial hypertension	biolink:Disease	mondo	SCTID:697897003|UMLS:CN202575|NCIT:C121945|ICD10:I27.0|COHD:44783618|OMIMPS:178600|Orphanet:275777	ordo_etiological_subtype	hereditary pulmonary arterial hypertension|familial pulmonary arterial hypertension|HpaH|FPAH	http://purl.obolibrary.org/obo/MONDO_0017148	Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.	NCIT:C121945|SNOMEDCT:697897003|ORPHA:275777|UMLS:CN202575
MONDO:0017141	hemorrhagic disorder due to a constitutional thrombocytopenia	biolink:Disease	mondo	Orphanet:275729|UMLS:CN227098	obsoletion_candidate|ordo_group_of_disorders	rare bleeding disorder due to a constitutional thrombocytopenia|rare coagulopathy due to a constitutional thrombocytopenia|rare coagulopathy due to a quantitative platelet defect|rare bleeding disorder due to a quantitative platelet defect|rare hemorrhagic disorder due to a constitutional thrombocytopenia|rare hemorrhagic disorder due to a quantitative platelet defect	http://purl.obolibrary.org/obo/MONDO_0017141		UMLS:CN227098|ORPHA:275729
MONDO:0017142	hemorrhagic disorder due to a qualitative platelet defect	biolink:Disease	mondo	ICD10:D69.8|UMLS:CN227099|Orphanet:275736	ordo_group_of_disorders|obsoletion_candidate	rare hemorrhagic disorder due to a qualitative platelet defect|rare hemorrhagic disorder due to a constitutional thrombopathy|rare bleeding disorder due to a qualitative platelet defect|rare coagulopathy due to a qualitative platelet defect|rare bleeding disorder due to a constitutional thrombopathy|rare coagulopathy due to a constitutional thrombopathy	http://purl.obolibrary.org/obo/MONDO_0017142		ORPHA:275736|UMLS:CN227099
MONDO:0017143	genetic infertility	biolink:Disease	mondo	Orphanet:275742	ordo_group_of_disorders	genetic infertility|hereditary infertility disorder	http://purl.obolibrary.org/obo/MONDO_0017143	Genetic infertility.	ORPHA:275742
MONDO:0017144	alpha-thalassemia and related diseases	biolink:Disease	mondo	UMLS:CN202570|ICD10:D56.0|Orphanet:275745	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017144		ORPHA:275745|UMLS:CN202570
MONDO:0019791	recessive mitochondrial ataxia syndrome	biolink:Disease	mondo	Orphanet:94125|UMLS:CN206743|EFO:0008816|ICD10:G11.8	ordo_disease	MIRAS	http://purl.obolibrary.org/obo/MONDO_0019791		ORPHA:94125|UMLS:CN206743
MONDO:0044791	combined hepatocellular carcinoma and cholangiocarcinoma	biolink:Disease	mondo	NCIT:C3828|SCTID:274902006|Orphanet:529852	ordo_disease	carcinoma of liver and intrahepatic biliary tract|carcinoma of the liver and intrahepatic biliary tract|combined hepatocellular carcinoma and cholangiocarcinoma|liver and intrahepatic biliary tract carcinoma|combined hepatocellular cancer and cholangiocarcinoma (bile duct cancer)|combined hepatocellular cancer and intrahepatic bile duct cancer (cholangiocarcinoma)|Cholangiohepatoma|Hepatocholangiocarcinoma|Mixed hepatocellular cholangiocarcinoma	http://purl.obolibrary.org/obo/MONDO_0044791	A rare tumor containing unequivocal elements of both hepatocellular and cholangiocarcinoma that are intimately admixed. This tumor should be distinguished from separate hepatocellular carcinoma and cholangiocarcinoma arising in the same liver. The prognosis of this tumor is poor.	NCIT:C3828|ORPHA:529852|SNOMEDCT:274902006
MONDO:0019790	neuroleptic malignant syndrome	biolink:Disease	mondo	NCIT:C94829|ICD10:G21.0|MESH:D009459|ICD9:333.92|UMLS:C0027849|MedDRA:10029282|SCTID:15244003|DOID:14464|EFO:1001379|GARD:0007195|Orphanet:94093|COHD:379802	gard_rare|ordo_disease	NMS	http://purl.obolibrary.org/obo/MONDO_0019790	Neuroleptic malignant syndrome (NMS) is an idiosyncratic condition associated with administration of antipsychotic and other central dopaminergic blockers, and characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness.	DOID:14464|MEDDRA:10029282|SNOMEDCT:15244003|ORPHA:94093|MESH:D009459|UMLS:C0027849|NCIT:C94829
MONDO:0044790	obsolete congenital melanocytic nevus	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0044790		
MONDO:0005149	pulmonary hypertension	biolink:Disease	mondo	SCTID:70995007|ICD10:I27.2|DOID:6432|EFO:0001361|MESH:D006976			http://purl.obolibrary.org/obo/MONDO_0005149	Increased pressure within the pulmonary circulation due to lung or heart disorder.	DOID:6432|MESH:D006976|NCIT:C3120|SNOMEDCT:70995007
MONDO:0005148	type 2 diabetes mellitus	biolink:Disease	mondo	MESH:D003924|COHD:201826|DOID:9352|EFO:0001360|NCIT:C26747|OMIM:125853|UMLS:CN244395|ICD10:E11|SCTID:44054006|KEGG:04930		diabetes mellitus, type 2|noninsulin-dependent diabetes mellitus|non-insulin dependent diabetes|NIDDM|diabetes mellitus, noninsulin-dependent|non-insulin-dependent diabetes mellitus|noninsulin dependent diabetes|diabetes mellitis type 2|non-insulin dependent diabetes mellitus|type II diabetes|adult onset diabetes|diabetes mellitis type II|insulin resistance, susceptibility to|diabetes mellitus, type 2, protection against|type 2 diabetes mellitus|maturity-onset diabetes|diabetes mellitus, noninsulin-dependent; NIDDM|adult-onset diabetes|type II diabetes mellitus|type 2 diabetes|T2DM - type 2 diabetes mellitus|type 2 diabetes mellitus non-insulin dependent|diabetes, type 2	http://purl.obolibrary.org/obo/MONDO_0005148	A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity.	UMLS:CN244395|MESH:D003924|http://identifiers.org/omim/125853|SNOMEDCT:44054006|DOID:9352|NCIT:C26747
MONDO:0044797	desmoplastic nevus	biolink:Disease	mondo	NCIT:C4497|UMLS:C0346098		Desmoplastic Nevus	http://purl.obolibrary.org/obo/MONDO_0044797	A benign melanocytic nevus characterized by the presence of desmoplastic stroma.	NCIT:C4497|UMLS:C0346098
MONDO:0020786	obsolete short sleep, familial natural, 2	biolink:Disease	mondo	OMIM:618591		SHORT SLEEP, FAMILIAL NATURAL, 2; FNSS2	http://purl.obolibrary.org/obo/MONDO_0020786		http://identifiers.org/omim/618591
MONDO:0005145	sporadic amyotrophic lateral sclerosis	biolink:Disease	mondo	EFO:0001357			http://purl.obolibrary.org/obo/MONDO_0005145	Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history.	
FOODON:00001092	vertebrate animal food product	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00001092	A food product which is derived from or produced by an animal that has a vertibrae.	
MONDO:0020785	capillary malformation-arteriovenous malformation 2	biolink:Disease	mondo	OMIM:618196		CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2; CMAVM2	http://purl.obolibrary.org/obo/MONDO_0020785		http://identifiers.org/omim/618196
MONDO:0044796	spindle cell nevus	biolink:Disease	mondo	SCTID:253038006|NCIT:C66758		spindle cell nevus	http://purl.obolibrary.org/obo/MONDO_0044796	A nevus characterized by the presence of spindle-shaped melanocytes.	NCIT:C66758|SNOMEDCT:253038006
MONDO:0005144	familial amyotrophic lateral sclerosis	biolink:Disease	mondo	EFO:0001356|OMIMPS:105400		hereditary amyotrophic lateral sclerosis	http://purl.obolibrary.org/obo/MONDO_0005144	An instance of amyotrophic lateral sclerosis that is caused by an inherited modification of the individual's genome.	
HGNC:10848	SHH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10848		
FOODON:00001093	cereal grain food product	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00001093		
MONDO:0005147	type 1 diabetes mellitus	biolink:Disease	mondo	DOID:9744|EFO:0001359|MESH:D003922|ICD10:E10|KEGG:04940|COHD:201254|NCIT:C2986|SCTID:46635009		insulin dependent diabetes|type I diabetes|IDDM|insulin dependent diabetes mellitus|diabetes mellitis type 1|type I diabetes mellitus|juvenile diabetes|type 1 diabetes|immune mediated diabetes|diabetes mellitis type I|insulin-dependent diabetes mellitus	http://purl.obolibrary.org/obo/MONDO_0005147	A chronic condition characterized by minimal or absent production of insulin by the pancreas.	MESH:D003922|NCIT:C2986|SNOMEDCT:46635009|DOID:9744
MONDO:0020784	obsolete short sleep, familial natural, 1	biolink:Disease	mondo	OMIM:612975		SHORT SLEEP, FAMILIAL NATURAL, 1; FNSS1|Short Sleep Phenotype	http://purl.obolibrary.org/obo/MONDO_0020784		http://identifiers.org/omim/612975
MONDO:0005146	post-traumatic stress disorder	biolink:Disease	mondo	DOID:2055|ICD9:309.81|EFO:0001358|MESH:D013313|NCIT:C3389|SCTID:47505003|NIFSTD:birnlex_12679|ICD10:F43.10|ICD10:F43.1		traumatic neurosis|PTSD|post-traumatic stress disorder|combat neurosis	http://purl.obolibrary.org/obo/MONDO_0005146	An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term.	MESH:D013313|SNOMEDCT:47505003|DOID:2055|NCIT:C3389
MONDO:0020783	capillary malformation-arteriovenous malformation 1	biolink:Disease	mondo	OMIM:608354		Capillary Malformation-Arteriovenous Malformation|CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1; CMAVM1	http://purl.obolibrary.org/obo/MONDO_0020783		http://identifiers.org/omim/608354
MONDO:0044793	spitz nevus	biolink:Disease	mondo	NCIT:C27007|GARD:0010412|ICDO:8770/0	gard_rare	spitz naevus|juvenile nevus|benign juvenile melanoma|spitz nevi|spitz nevus|spindle and/ or epithelioid cell Nevus	http://purl.obolibrary.org/obo/MONDO_0044793	A benign, acquired or congenital, usually single skin lesion. It can occur on any area of the body, but most commonly occurs on the face of children and the thighs of young females. It is characterized by a proliferation of large spindle, oval, or large epithelioid melanocytes in the dermal-epidermal junction. The melanocytic proliferation subsequently extends into the dermis.	NCIT:C27007
MONDO:0020782	chronic gingivitis	biolink:Disease	mondo	SCTID:72621003|UMLS:C0008684|ICD9:523.1|NCIT:C34474|ICD9:523.10		Chronic gingivitis|chronic gingivitis|Chronic Gingivitis	http://purl.obolibrary.org/obo/MONDO_0020782	Chronic painless inflammation of the gums. It is characterized by erythema and edema of the gums and bleeding while brushing the teeth.	SNOMEDCT:72621003|NCIT:C34474|UMLS:C0008684
MONDO:0005141	Pseudomonas infection	biolink:Disease	mondo	SCTID:63398001|EFO:0001076|ICD9:041.7|MESH:D011552		Pseudomonas disease or disorder|Pseudomonas infectious disease|Pseudomonas caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005141	Infections with bacteria of the genus pseudomonas.	MESH:D011552|SNOMEDCT:63398001
MONDO:0005140	ovarian carcinoma	biolink:Disease	mondo	DOID:4001|EFO:0001075|NCIT:C4908		ovarian epithelial cancer|ovarian cancer|carcinoma of the ovary|carcinoma of ovary|ovary carcinoma|ovarian carcinoma|epithelial ovarian cancer	http://purl.obolibrary.org/obo/MONDO_0005140	A malignant neoplasm originating from the surface ovarian epithelium. It accounts for the greatest number of deaths from malignancies of the female genital tract and is the fifth leading cause of cancer fatalities in women. It is predominantly a disease of older white women of northern European extraction, but it is seen in all ages and ethnic groups. Adenocarcinomas constitute the vast majority of ovarian carcinomas. The pattern of metastatic spread in ovarian carcinoma is similar regardless of the microscopic type. The most common sites of involvement are the contralateral ovary, peritoneal cavity, para-aortic and pelvic lymph nodes, and liver. Lung and pleura are the most common sites of extra-abdominal spread. The primary form of therapy is surgical. The overall prognosis of ovarian carcinoma remains poor, a direct result of its rapid growth rate and the lack of early symptoms. --2002	DOID:4001|NCIT:C4908
MONDO:0044792	large congenital melanocytic nevus	biolink:Disease	mondo	UMLS:C1318558|ICD10:Q82.5|SCTID:398696001|Orphanet:626|ONCOTREE:SKCN|DOID:0111359|MedDRA:10072036|NCIT:C3944|UMLS:C1842036|OMIM:137550	ordo_disease	congenital pigmented Nevus of skin|congenital pigmented Nevus of the skin|congenital melanocytic Nevus of skin|congenital melanocytic Nevus of the skin|Giant congenital melanocytic nevus|Giant Congenital pigmented Nevus|melanocytic NEVUS syndrome, CONGENITAL; CMNS|Giant pigmented hairy nevus|congenital melanocytic nevi|Giant pigmented hairy Nevus|congenital pigmented skin Nevus|congenital melanocytic Nevus|pigmented moles|Nevus spilus|congenital Nevus of skin|congenital nevus|spitz Nevus|LCMN|GMN|congenital Nevus of the skin|congenital pigmented melanocytic Nevus|congenital skin Nevus|CMNS|congenital pigmented nevus	http://purl.obolibrary.org/obo/MONDO_0044792	A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.	SNOMEDCT:398696001|NCIT:C3944|http://identifiers.org/omim/137550|UMLS:C1842036|DOID:0111359|ORPHA:626|MEDDRA:10072036|UMLS:C1318558
MONDO:0020781	encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	biolink:Disease	mondo	EFO:0009158|Orphanet:555407|OMIM:617186		NAD(P)HX epimerase deficiency|ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1; PEBEL1	http://purl.obolibrary.org/obo/MONDO_0020781		ORPHA:555407|http://identifiers.org/omim/617186
MONDO:0020780	cone-rod dystrophy and hearing loss 2	biolink:Disease	mondo	OMIM:618358		CONE-ROD DYSTROPHY AND HEARING LOSS 2; CRDHL2	http://purl.obolibrary.org/obo/MONDO_0020780		http://identifiers.org/omim/618358
MONDO:0044795	epithelioid cell nevus	biolink:Disease	mondo	UMLS:C0259820|NCIT:C66757		epithelioid cell nevus	http://purl.obolibrary.org/obo/MONDO_0044795	A nevus characterized by the presence of large epithelioid melanocytes.	NCIT:C66757|UMLS:C0259820
MONDO:0005143	Pseudomonas aeruginosa PA14 infection	biolink:Disease	mondo	EFO:0001078			http://purl.obolibrary.org/obo/MONDO_0005143	A Pseudomonas aeruginosa PA14 infection is a Pseudomonas infection of strain PA14.	
MONDO:0005142	Pseudomonas aeruginosa CF5 infection	biolink:Disease	mondo	EFO:0001077			http://purl.obolibrary.org/obo/MONDO_0005142	A Pseudomonas aeruginosa CF5 infection is a Pseudomonas infection of strain CF5.	
MONDO:0044794	benign melanocytic skin nevus	biolink:Disease	mondo	UMLS:C1456781|NCIT:C7571		benign skin nevus|benign melanocytic nevus of skin|benign melanocytic nevus of the skin|benign melanocytic nevus|benign melanocytic skin nevus|benign nevus of skin|benign nevus of the skin|benign mole	http://purl.obolibrary.org/obo/MONDO_0044794	A benign, circumscribed proliferation of melanocytes in the skin. Variants include the Spitz nevus, halo nevus, blue nevus, and balloon cell nevus.	NCIT:C7571|UMLS:C1456781
NCBITaxon:140693	Pulicomorpha	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_140693		
MONDO:0020779	cartilage development disorder	biolink:Disease	mondo	ICD9:756.4|NCIT:C34466|ICD9:756.9|SCTID:67988000|UMLS:C0008449		cartilage development disorder|Congenital anomaly of cartilage|chondrodystrophy|abnormal development of cartilage|congenital anomaly of cartilage|Cartilage Development Disorder|chondrodystrophy|Chondrodystrophy|Abnormal development of cartilage	http://purl.obolibrary.org/obo/MONDO_0020779	Any dysfunction in the growth of cartilage.	NCIT:C34466|UMLS:C0008449|SNOMEDCT:67988000
MONDO:0017138	Opitz G/BBB syndrome	biolink:Disease	mondo	Orphanet:2745|NCIT:C125487|KEGG:H00583|UMLS:CN202554|SCTID:81771002|OMIMPS:300000|ICD9:758.89|DOID:0050780|ICD10:Q87.8|GARD:0000193	ordo_inheritance_inconsistent|gard_rare|ordo_malformation_syndrome	hypertelorism hypospadias syndrome|hypertelorism with esophageal abnormality and hypospadias|Opitz GBBB syndrome|Opitz-GBBB syndrome|hypertelorism-oesophageal abnormality-hypospadias syndrome|BBB syndrome|Opitz syndrome|telecanthus with associated abnormalities|hypospadias-hypertelorism syndrome|Opitz G/BBB syndrome|G syndrome|Opitz BBBG syndrome|Opitz-Frias syndrome|Opitz-G syndrome, type 2|hypospadias-dysphagia syndrome|hypospadias-dysphagia, syndrome|Opitz G syndrome|GBBB syndrome	http://purl.obolibrary.org/obo/MONDO_0017138	Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS).	UMLS:CN202554|ORPHA:2745|SNOMEDCT:81771002|DOID:0050780|NCIT:C125487
MONDO:0017139	oromandibular-limb hypogenesis syndrome	biolink:Disease	mondo	UMLS:CN202556|ICD10:Q87.5|GARD:0004116|Orphanet:2749	ordo_group_of_disorders	oro-mandibular-limb hypogenesis syndrome|Oroacral syndrome	http://purl.obolibrary.org/obo/MONDO_0017139	Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).	UMLS:CN202556|ORPHA:2749
MONDO:0020778	cone-rod dystrophy and hearing loss 1	biolink:Disease	mondo	OMIM:617236		CONE-ROD DYSTROPHY AND HEARING LOSS 1; CRDHL1|Crdhl	http://purl.obolibrary.org/obo/MONDO_0020778		http://identifiers.org/omim/617236
MONDO:0044789	digital papillary eccrine carcinoma	biolink:Disease	mondo	NCIT:C27534		papillary eccrine carcinoma of digit|digital papillary eccrine carcinoma|papillary digital eccrine carcinoma|digital papillary carcinoma|digit papillary eccrine carcinoma|digital papillary carcinoma of skin	http://purl.obolibrary.org/obo/MONDO_0044789	An adenocarcinoma arising from the sweat glands. Most cases present as nodular lesions on the digits, usually in the hands. It is characterized by the presence of epithelial cells in the dermis forming nodules. Cystic structures containing papillary projections are also present. It may recur and metastasize, most commonly to the lungs.	NCIT:C27534
MONDO:0020777	congenital disorder of glycosylation with defective fucosylation 2	biolink:Disease	mondo	OMIM:618324		CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2; CDGF2	http://purl.obolibrary.org/obo/MONDO_0020777		http://identifiers.org/omim/618324
MONDO:0020776	chlamydiaceae infections	biolink:Disease	mondo	UMLS:C0008153|MESH:D002694|EFO:1001288		Infections, Chlamydiaceae|Infection, Chlamydiaceae|Chlamydiaceae Infections|Chlamydiaceae Infection	http://purl.obolibrary.org/obo/MONDO_0020776	Infections with bacteria of the family CHLAMYDIACEAE.	MESH:D002694|UMLS:C0008153
MONDO:0019797	acrodysostosis	biolink:Disease	mondo	SCTID:66758006|ICD9:756.59|GARD:0005724|UMLS:C0220659|MESH:C538179|DOID:14669|Orphanet:950|ICD10:Q75.4|OMIMPS:101800	ordo_malformation_syndrome|gard_rare	peripheral dysostosis-nasal hypoplasia-intellectual disability (PNM) syndrome|Arkless-Graham syndrome|Maroteaux-Malamut syndrome|nasal hypoplasia-peripheral dysostosis-intellectual disability syndrome|acrodysplasia	http://purl.obolibrary.org/obo/MONDO_0019797	Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.	DOID:14669|ORPHA:950|SNOMEDCT:66758006|UMLS:C0220659|MESH:C538179
MONDO:0017134	odonto-onycho dysplasia-alopecia syndrome	biolink:Disease	mondo	Orphanet:2722|UMLS:CN202534|GARD:0004051	ordo_malformation_syndrome	odonto onycho dysplasia with alopecia	http://purl.obolibrary.org/obo/MONDO_0017134	Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, cafe-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985.	ORPHA:2722|UMLS:CN202534
MONDO:0019796	acrocephalosyndactyly	biolink:Disease	mondo	Orphanet:946|NCIT:C34348|GARD:0000486|ICD10:Q87.0|MedDRA:10000590|EFO:0004123|ICD9:755.55|DOID:12960|SCTID:268262006|COHD:439134	ordo_group_of_disorders|gard_rare	acrocephalosyndactylia|ACS|acrocephalosyndactyly|apert syndrome	http://purl.obolibrary.org/obo/MONDO_0019796	Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations.	NCIT:C34348|ORPHA:946|UMLS:C1510455|SNOMEDCT:268262006|DOID:12960|MEDDRA:10000590
MONDO:0017135	olivopontocerebellar atrophy-deafness syndrome	biolink:Disease	mondo	Orphanet:2732|UMLS:CN202542|GARD:0004070	ordo_malformation_syndrome	olivopontocerebellar atrophy deafness	http://purl.obolibrary.org/obo/MONDO_0017135	Olivopontocerebellar atrophy-deafness syndrome is characterised by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases.	UMLS:CN202542|ORPHA:2732
MONDO:0019799	hepatoerythropoietic porphyria	biolink:Disease	mondo	UMLS:C0162569|ICD10:E80.2|SCTID:111386004|Orphanet:95159|GARD:0006169|MESH:D017121|NCIT:C84754|DOID:5230	ordo_disease	hep	http://purl.obolibrary.org/obo/MONDO_0019799	Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria characterized by bullous photodermatitis.	DOID:5230|UMLS:C0162569|ORPHA:95159|SNOMEDCT:111386004|MESH:D017121|NCIT:C84754|UMLS:C0268324
MONDO:0017136	omodysplasia	biolink:Disease	mondo	SCTID:725164008|OMIMPS:258315|DOID:0060288|ICD10:Q78.8|UMLS:C4510897|Orphanet:2733	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0017136	Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs.	ORPHA:2733|SNOMEDCT:725164008|DOID:0060288|UMLS:C4510897
MONDO:0017137	onchocerciasis	biolink:Disease	mondo	SCTID:38539003|GARD:0007252|MedDRA:10039202|DOID:11678|EFO:0007402|ICD9:125.3|ICD10:B73|MedDRA:10030314|UMLS:C0029001|MESH:D009855|NCIT:C34861|Orphanet:2737	ordo_disease|gard_rare	Onchocerca volvulus infection|Robles' disease|infection caused by Onchocerca volvulus|volvulosis|River blindness|infection by Onchocerca volvulus|onchocerciasis|onchocercosis	http://purl.obolibrary.org/obo/MONDO_0017137	Onchocerciasis is a form of filariasis, caused by the parasitic worm Onchocerca volvulus, transmitted by the black fly. The infection can either be asymptomatic or manifest as an ocular disease (river blindness) with itchy eyes, erythema, photophobia, onchodermatitis or onchocercal skin disease (classified into acute papular, chronic papular, lichenified, atrophic, and depigmentated) and onchocercomas (over bony prominences). Other classic clinical manifestations are ichthyosis-like lesions (''lizard skin'') and ''hanging groin'', which may be associated with lymphadenopathy.	ORPHA:2737|MESH:D009855|NCIT:C34861|SNOMEDCT:38539003|UMLS:C0029001|MEDDRA:10039202|DOID:11678|MEDDRA:10030314
MONDO:0019798	obsolete acute hepatic porphyria	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019798		
MONDO:0019793	autosomal dominant cerebellar ataxia type III	biolink:Disease	mondo	ICD10:G11.8|UMLS:CN206746|Orphanet:94148	ordo_group_of_disorders	autosomal dominant cerebellar ataxia type 3|Pure cerebellar syndrome-mild pyramidal signs syndrome|ADCAIII|ADCA3|autosomal dominant cerebellar ataxia type III	http://purl.obolibrary.org/obo/MONDO_0019793	Autosomal dominant cerebellar ataxia (ACDA) type III is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31.	UMLS:CN206746|ORPHA:94148
MONDO:0017130	obsolete genetic urogenital tumor	biolink:Disease	mondo	Orphanet:271844	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017130		ORPHA:271844
MONDO:0019792	autosomal dominant cerebellar ataxia type I	biolink:Disease	mondo	UMLS:CN206744|Orphanet:94145|ICD10:G11.8	ordo_group_of_disorders	cerebellar plus syndrome|ADCA1|autosomal dominant cerebellar ataxia type 1|ADCAI	http://purl.obolibrary.org/obo/MONDO_0019792	Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.	UMLS:CN206744|ORPHA:94145
MONDO:0017131	genetic cardiac anomaly	biolink:Disease	mondo	Orphanet:271853	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017131		ORPHA:271853
MONDO:0019795	acalvaria	biolink:Disease	mondo	Orphanet:945|SCTID:203923004|UMLS:C2930936|GARD:0000361|MESH:C535570|ICD10:Q00.0	ordo_malformation_syndrome|gard_rare	primary acalvaria|Acrania	http://purl.obolibrary.org/obo/MONDO_0019795	Acalvaria is a rare malformation defined as missing scalp and flat bones over an area of the cranial vault. The size of the affected area is variable. In rare cases, acalvaria involves the whole of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones. Dura mater and associated muscles are absent in the affected area but the central nervous system is usually unaffected, although some neuropathological abnormality is often present (e.g. holoprosencephaly or gyration anomalies). Skull base and facial bones are normal.	MESH:D009436|ORPHA:945|MESH:C535570|UMLS:C0702169|UMLS:C2930936|SNOMEDCT:203923004
MONDO:0017132	hereditary ATTR amyloidosis	biolink:Disease	mondo	UMLS:CN227096|Orphanet:271861	ordo_group_of_disorders	familial TTR-related amyloidosis|familial transthyretin-related amyloidosis	http://purl.obolibrary.org/obo/MONDO_0017132		ORPHA:271861|UMLS:CN227096
MONDO:0017133	genetic systemic or rheumatologic disease	biolink:Disease	mondo	Orphanet:271870|UMLS:CN202531	ordo_group_of_disorders	hereditary systemic or rheumatic disease	http://purl.obolibrary.org/obo/MONDO_0017133	An instance of systemic or rheumatic disease that is caused by a modification of the individual's genome.	ORPHA:271870|UMLS:CN202531
MONDO:0019794	autosomal dominant cerebellar ataxia type IV	biolink:Disease	mondo	ICD10:G11.8|UMLS:CN229225|Orphanet:94149	ordo_group_of_disorders	ADCAIV|autosomal dominant cerebellar ataxia type 4|autosomal dominant cerebellar ataxia type IV|ADCA4	http://purl.obolibrary.org/obo/MONDO_0019794		ORPHA:94149|UMLS:CN229225
MONDO:0019780	anotia	biolink:Disease	mondo	ICD10:Q16.1|ICD10:Q16.0|SCTID:57436000|Orphanet:93976|MedDRA:10002654|ICD9:744.01	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0019780	Anotia is a congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development.	MESH:C537772|MEDDRA:10002654|SNOMEDCT:57436000|ORPHA:93976
NCBITaxon:2509487	Igacovirus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2509487		
MONDO:0005159	prostate carcinoma	biolink:Disease	mondo	NCIT:C4863|UMLS:C0600139|DOID:10286|EFO:0001663|KEGG:05215		carcinoma of prostate|carcinoma of the prostate|prostate cancer, NOS|prostate carcinoma|carcinoma of prostate gland|cancer of prostate|cancer of the prostate|prostate cancer|prostate gland carcinoma	http://purl.obolibrary.org/obo/MONDO_0005159	A carcinoma that arises from epithelial cells of the prostate gland.	UMLS:C0600139|DOID:10286|NCIT:C4863
MONDO:0005156	encephalomyelitis	biolink:Disease	mondo	EFO:0001423|DOID:640|ICD9:323.9|NCIT:C34580|UMLS:C0014070|MESH:D004679|SCTID:62950007		encephalitis &/or myelitis|inflammation of central nervous system|central nervous system inflammation|encephalitis and/or myelitis	http://purl.obolibrary.org/obo/MONDO_0005156	Inflammation of the brain and the spinal cord.	SNOMEDCT:62950007|NCIT:C34580|DOID:640|MESH:D004679|UMLS:C0014070
MONDO:0020775	congenital disorder of glycosylation with defective fucosylation 1	biolink:Disease	mondo	OMIM:618005		Cdgf|CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1; CDGF1	http://purl.obolibrary.org/obo/MONDO_0020775		http://identifiers.org/omim/618005
MONDO:0020774	Menke-Hennekam syndrome	biolink:Disease	mondo	OMIMPS:618332|Orphanet:592574			http://purl.obolibrary.org/obo/MONDO_0020774		ORPHA:592574
MONDO:0005155	cirrhosis of liver	biolink:Disease	mondo	MESH:D008103|UMLS:C0023890|SCTID:19943007|NCIT:C2951|ICD10:K74.60|DOID:5082|EFO:0001422|ICD9:571.5		liver cirrhosis|cirrhosis|cirrhosis of liver	http://purl.obolibrary.org/obo/MONDO_0005155	A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy.	MESH:D008103|NCIT:C2951|SNOMEDCT:19943007|UMLS:C0023890|DOID:5082
MONDO:0020773	cerebrospinal fluid rhinorrhea	biolink:Disease	mondo	HP:0030998|GTR:AN1355639|SCTID:85638002|MESH:D002559|GTR:AN1353832|UMLS:C0007815|ICD9:349.81|NCIT:C84627		Rhinorrhea, Cerebrospinal Fluid|Rhinorrhea, post-Traumatic, Cerebrospinal Fluid|Cerebrospinal Fluid Rhinorrhea, post-Traumatic|Rhinorrhea, Cerebrospinal Fluid, Spontaneous|CSF Rhinorrhea|Cerebrospinal Rhinorrheas|Rhinorrhea, Cerebrospinal Fluid, post-Traumatic|Rhinorrheas, Cerebrospinal Fluid|CSF Rhinorrheas|Cerebrospinal fluid rhinorrhoea|Cerebrospinal Rhinorrhea|Cerebrospinal Fluid Rhinorrhea, post Traumatic|Rhinorrhea, Spontaneous Cerebrospinal Fluid|Cerebrospinal rhinorrhea|Cerebrospinal Fluid Rhinorrhea, Spontaneous|Spontaneous Rhinorrhea, Cerebrospinal Fluid|post-Traumatic Rhinorrhea, Cerebrospinal Fluid|post Traumatic Cerebrospinal Fluid Rhinorrhea|CSF - Cerebrospinal rhinorrhea|Rhinorrhea, Cerebrospinal Fluid, Traumatic|Traumatic Cerebrospinal Fluid Rhinorrhea|Cerebrospinal Fluid Rhinorrheas|cerebrospinal rhinorrhea|Cerebrospinal Fluid Rhinorrhea, Traumatic|post Traumatic Rhinorrhea, Cerebrospinal Fluid|Rhinorrhea, Cerebrospinal|Traumatic Rhinorrhea, Cerebrospinal Fluid|Rhinorrhea, Traumatic Cerebrospinal Fluid|Rhinorrhea, CSF|post-Traumatic Cerebrospinal Fluid Rhinorrhea|CSF rhinorrhoea|Cerebrospinal Fluid Rhinorrhea|Spontaneous Cerebrospinal Fluid Rhinorrhea|Rhinorrheas, Cerebrospinal|csf - cerebrospinal rhinorrhea|Rhinorrheas, CSF|cerebrospinal fluid rhinorrhea|Cerebrospinal fluid rhinorrhea	http://purl.obolibrary.org/obo/MONDO_0020773	Discharge of cerebrospinal fluid through the nose. Common etiologies include trauma, neoplasms, and prior surgery, although the condition may occur spontaneously. (Otolaryngol Head Neck Surg 1997 Apr;116(4):442-9)	UMLS:C0007815|NCIT:C84627|MESH:D002559|SNOMEDCT:85638002
HGNC:10856	SI	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10856		
MONDO:0005158	obsolete coronary heart disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005158		
MONDO:0005157	lymphoid neoplasm	biolink:Disease	mondo	UMLS:C0598798|EFO:0001642|NCIT:C7065|ONCOTREE:LYMPH|ICD9:200.7		lymphoid tumor|lymphoid and plasmacytic tumour|lymphocytic tumor|lymphocytic and plasma cell neoplasm|lymphoid and plasmacytic tumor|lymphocytic and plasmacytic neoplasm|lymphoid and plasma cell tumor|lymphoid and plasmacytic neoplasm|lymphocytic and plasma cell tumour|lymphocytic and plasma cell tumor|lymphoid and plasma cell tumour|lymphocytic neoplasm|lymphoid neoplasm	http://purl.obolibrary.org/obo/MONDO_0005157	A neoplasm composed of a lymphocytic cell population which is usually malignant (clonal) by molecular genetic and/or immunophenotypic analysis. Lymphocytic neoplasms include Hodgkin and non-Hodgkin lymphomas, acute and chronic lymphocytic leukemias, and plasma cell neoplasms.	UMLS:C0598798|NCIT:C7065
MONDO:0020772	epilepsy, juvenile absence, susceptibility to, 1	biolink:Disease	mondo	DOID:0111324|OMIM:607631		EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1; EJA1|JAE1	http://purl.obolibrary.org/obo/MONDO_0020772		DOID:0111324|http://identifiers.org/omim/607631
MONDO:0005152	hypopituitarism	biolink:Disease	mondo	MESH:D007018|NCIT:C62591|COHD:4254542|DOID:9406|GARD:0002917|EFO:0001380|SCTID:74728003|ICD10:E23.0|UMLS:C0020635	gard_rare	pituitary hormone deficiency|pituitary hypofunction|pituitary insufficiency	http://purl.obolibrary.org/obo/MONDO_0005152	A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions.	MESH:D007018|NCIT:C62591|DOID:9406|SNOMEDCT:74728003|UMLS:C0020635
MONDO:0020771	spinocerebellar ataxia, autosomal recessive, with axonal neuropathy	biolink:Disease	mondo	OMIMPS:607250		SCAN	http://purl.obolibrary.org/obo/MONDO_0020771		
MONDO:0005151	endocrine system disease	biolink:Disease	mondo	ICD9:259.8|NCIT:C3009|ICD9:259.9|DOID:28|UMLS:C0014130|SCTID:362969004|MESH:D004700|ICD10:E34.9|EFO:0001379		endocrine system disorder|endocrinopathy|endocrine disease|disorder of endocrine system|endocrine system disease or disorder|endocrine disorder|thyroid or other glandular disorders|disease of endocrine system|disease or disorder of endocrine system|disorder of endocrine system|endocrine system disease	http://purl.obolibrary.org/obo/MONDO_0005151	A disease involving the endocrine system.	SNOMEDCT:362969004|NCIT:C3009|DOID:28|MESH:D004700|UMLS:C0014130
MONDO:0020770	spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	biolink:Disease	mondo	OMIM:618387		SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3; SCAN3|SCAN3	http://purl.obolibrary.org/obo/MONDO_0020770		http://identifiers.org/omim/618387
MONDO:0005154	liver disease	biolink:Disease	mondo	NCIT:C3196|EFO:0001421|SCTID:235856003|UMLS:C0023895|ICD10:K76.9|ICD9:573.8|ICD10:K70-K77|DOID:409|ICD9:573.9|COHD:194984|MESH:D008107		hepatic disorder|disease of liver|liver disease or disorder|disorder of liver|liver disorder|liver and intrahepatic bile duct disorder|disorder of liver|liver disease|hepatic disease|disease or disorder of liver	http://purl.obolibrary.org/obo/MONDO_0005154	A disease involving the liver.	MESH:D008107|DOID:409|NCIT:C50634|UMLS:C0023895|NCIT:C3196|SNOMEDCT:235856003
MONDO:0005153	cervical adenocarcinoma	biolink:Disease	mondo	ONCOTREE:CEAD|DOID:3702|NCIT:C4029|EFO:0001416|SCTID:254887002		adenocarcinoma - cervix|uterine cervix adenocarcinoma|cervix uteri adenocarcinoma|adenocarcinoma of cervix|adenocarcinoma of the cervix|adenocarcinoma of the uterine cervix|adenocarcinoma cervix uteri|cervix adenocarcinoma|adenocarcinoma of cervix uteri|adenocarcinoma of the cervix uteri|adenocarcinoma of uterine cervix|cervical adenocarcinoma, not otherwise specified|cervical adenocarcinoma|cervical adenocarcinoma, NOS	http://purl.obolibrary.org/obo/MONDO_0005153	An adenocarcinoma arising from the cervical epithelium. It accounts for approximately 15% of invasive cervical carcinomas. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors. Grossly, advanced cervical adenocarcinoma may present as an exophytic mass, an ulcerated lesion, or diffuse cervical enlargement. Microscopically, the majority of cervical adenocarcinomas are of the endocervical (mucinous) type.	SNOMEDCT:254887002|DOID:3702|NCIT:C4029
MONDO:0005150	age-related macular degeneration	biolink:Disease	mondo	SCTID:267718000|NIFSTD:birnlex_12812|DOID:10871|EFO:0001365|NCIT:C84391|ICD9:362.50|ICD10:H35.30|Orphanet:279|OMIMPS:603075|COHD:374028|UMLS:C0242383		Senile macular degeneration|macular degeneration, age-related|Senile macular retinal degeneration|AMD|age related maculopathy|ARMD|age-related macular degeneration|age related Maculopathies|age related macular degeneration	http://purl.obolibrary.org/obo/MONDO_0005150	Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration.	SNOMEDCT:267718000|NCIT:C84391|NCIT:C25416|DOID:10871|UMLS:C0242383|ORPHA:279
MONDO:0020769	Menke-Hennekam syndrome 2	biolink:Disease	mondo	OMIM:618333		Menke-Hennekam syndrome 2; MKHK2	http://purl.obolibrary.org/obo/MONDO_0020769		http://identifiers.org/omim/618333
MONDO:0017127	inherited soft tissue tumor	biolink:Disease	mondo	UMLS:CN202526|Orphanet:271832	ordo_group_of_disorders	hereditary mesenchymal cell neoplasm|genetic mesenchymal tumor|genetic soft tissue tumor|genetic mesenchymal cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0017127	An instance of mesenchymal cell neoplasm that is caused by an inherited modification of the individual's genome.	UMLS:CN202526|ORPHA:271832
MONDO:0020768	X-linked deafness	biolink:Disease	mondo	OMIMPS:304500|GARD:0001715		deafness, X-linked, DFN|deafness, X-linked|DFNX	http://purl.obolibrary.org/obo/MONDO_0020768		
MONDO:0020767	cauda equina syndrome with neurogenic bladder	biolink:Disease	mondo	SCTID:12454008|ICD9:344.61|NCIT:C34453|UMLS:C0007459		cauda equina syndrome with neurogenic bladder|Cauda Equina Syndrome with Neurogenic Bladder|Cauda equina syndrome with neurogenic bladder	http://purl.obolibrary.org/obo/MONDO_0020767	A rare neurologic disorder caused by impingement of the nerve roots of the cauda equina secondary to disc herniation, spinal stenosis, vertebral fracture, neoplasm or infection. Clinical signs may include bladder or bowel dysfunction, paresthesia and weakness of the lower extremities. The development of neurogenic bladder implies that surgical decompression was either ineffective, delayed or not attempted.	SNOMEDCT:12454008|NCIT:C34453|UMLS:C0007459
MONDO:0019789	cytophagic histiocytic panniculitis	biolink:Disease	mondo	SCTID:238883003|UMLS:C0406594|Orphanet:94087|ICD10:M35.8	ordo_disease	CHP|Winkelmann cytophagic panniculitis	http://purl.obolibrary.org/obo/MONDO_0019789	Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue.	UMLS:C0406594|ORPHA:94087|SNOMEDCT:238883003
MONDO:0017128	inherited digestive tract tumor	biolink:Disease	mondo	UMLS:CN202527|Orphanet:271835	ordo_group_of_disorders	genetic digestive tract tumor	http://purl.obolibrary.org/obo/MONDO_0017128		UMLS:CN202527|ORPHA:271835
MONDO:0017129	inherited cardiac tumor	biolink:Disease	mondo	UMLS:CN202528|Orphanet:271841	ordo_group_of_disorders	hereditary heart neoplasm|genetic heart tumor|genetic cardiac tumor	http://purl.obolibrary.org/obo/MONDO_0017129	An instance of heart cancer that is caused by a modification of the individual's genome.	UMLS:CN202528|ORPHA:271841
MONDO:0020766	neuropathy, congenital hypomyelinating, 3	biolink:Disease	mondo	OMIM:618186		CHN3|NEUROPATHY, CONGENITAL HYPOMYELINATING, 3; CHN3	http://purl.obolibrary.org/obo/MONDO_0020766		http://identifiers.org/omim/618186
CHEBI:79020	alpha,beta-unsaturated monocarboxylic acid	biolink:ChemicalSubstance	mondo			2,3-unsaturated monocarboxylic acids|alpha,beta-unsaturated monocarboxylic acids|2,3-unsaturated monocarboxylic acid	http://purl.obolibrary.org/obo/CHEBI_79020	A monocarboxylic acid in which the carbon of the carboxy group is directly attached to a C=C or C#C bond.	
MONDO:0020765	neuropathy, congenital hypomyelinating, 2	biolink:Disease	mondo	OMIM:618184		NEUROPATHY, CONGENITAL HYPOMYELINATING, 2; CHN2|CHN2	http://purl.obolibrary.org/obo/MONDO_0020765		http://identifiers.org/omim/618184
MONDO:0017123	arthrogryposis-renal dysfunction-cholestasis syndrome	biolink:Disease	mondo	OMIMPS:208085|GARD:0000794|Orphanet:2697|SCTID:720513002|DOID:0050763|ICD10:Q89.7|MESH:C535382	ordo_malformation_syndrome	arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome|arthrogryposis-renal dysfunction-cholestasis|arthrogryposis - renal dysfunction - cholestasis|arthrogryposis renal dysfunction cholestasis syndrome|arthrogryposis, renal dysfunction, and cholestasis|arthrogryposis multiplex congenita, renal dysfunction, and cholestasis|ARC syndrome	http://purl.obolibrary.org/obo/MONDO_0017123	Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.	UMLS:C1859722|ORPHA:2697|MESH:C535382|DOID:0050763|SNOMEDCT:720513002
MONDO:0019786	severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia	biolink:Disease	mondo	ICD10:Q87.8|Orphanet:94066	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0019786	Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterised by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localised to chromosome 1 and the other to chromosome 14.	ORPHA:94066
MONDO:0019785	obsolete 15q24 microdeletion syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019785		
MONDO:0017124	noma	biolink:Disease	mondo	Orphanet:2700|NCIT:C34852|ICD10:A69.0|COHD:141055|ICD9:528.1|MESH:D009625|EFO:1001063|GARD:0004001|UMLS:C0028271|MedDRA:10029502|SCTID:18116006|DOID:9672	ordo_disease|gard_rare	gangrenous stomatitis|oro-facial gangrene|oral gangrene|noma neonatorum|cancrum oris|oro-facial noma	http://purl.obolibrary.org/obo/MONDO_0017124	Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face.	SNOMEDCT:18116006|ORPHA:2700|MESH:D009625|NCIT:C34852|MEDDRA:10029502|DOID:9672|UMLS:C0028271
MONDO:0017125	oculofaciocardiodental syndrome	biolink:Disease	mondo	Orphanet:2712|SCTID:699300009|ICD9:759.89|ICD10:Q87.8|GARD:0004628	ordo_malformation_syndrome	cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome|syndromic microphthalmia type 2|OFCD syndrome|ANOP2 (formerly)|MAA2 (formerly)|microphthalmia cataracts radiculomegaly and septal heart defects|microphthalmia syndromic 2	http://purl.obolibrary.org/obo/MONDO_0017125	Oculo-facio-cardio-dental syndrome (OFCD) is a very rare multiple congenital anomaly syndrome characterized by dental radiculomegaly, congenital cataract, facial dismorphism and congenital heart disease.	UMLS:C1846265|ORPHA:2712|MESH:C537465|MESH:C537735|SNOMEDCT:699300009|UMLS:C2931601
MONDO:0019788	non-secreting paraganglioma	biolink:Disease	mondo	Orphanet:94080|SCTID:764999002	ordo_disease	non-functioning paraganglioma	http://purl.obolibrary.org/obo/MONDO_0019788	Non-functioning paraganglioma is a rare neuroendocrine tumor arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilia, organ of Zuckerkandl, thoracic paraspinal region, bladder, and carotid body) not associated with catecholamine secretion. These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel Lindau syndrome, may be observed.	SNOMEDCT:764999002|ORPHA:94080
MONDO:0019787	autoimmune enteropathy	biolink:Disease	mondo	ICD9:279.49|MESH:C538273|UMLS:C0341305|Orphanet:94075|GARD:0008689|SCTID:235728001|NCIT:C94694	ordo_group_of_disorders	immune-mediated protracted diarrhea of infancy|severe immune-mediated enteropathy	http://purl.obolibrary.org/obo/MONDO_0019787	Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss.	MESH:C538273|NCIT:C94694|UMLS:C0341305|SNOMEDCT:235728001|ORPHA:94075
MONDO:0017126	oculo-skeletal-renal syndrome	biolink:Disease	mondo	UMLS:CN202523|GARD:0004028|Orphanet:2716	ordo_malformation_syndrome|gard_rare	oculo skeletal renal syndrome	http://purl.obolibrary.org/obo/MONDO_0017126		UMLS:CN202523|ORPHA:2716
MONDO:0019782	humero-ulnar synostosis	biolink:Disease	mondo	Orphanet:94056|ICD10:Q74.0	ordo_morphological_anomaly	humero-ulnar fusion	http://purl.obolibrary.org/obo/MONDO_0019782		ORPHA:94056|UMLS:C0431799
MONDO:0017120	other syndrome with a central nervous system malformation as major feature	biolink:Disease	mondo	Orphanet:269531|UMLS:CN202470	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017120		ORPHA:269531|UMLS:CN202470
MONDO:0019781	astrocytoma (excluding glioblastoma)	biolink:Disease	mondo	MESH:D001254|SCTID:147101000119108|ONCOTREE:ASTR|ICDO:9400/3|UMLS:C0004114|NCIT:C60781		astrocytoma	http://purl.obolibrary.org/obo/MONDO_0019781	A tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, and subependymal giant cell astrocytoma.	NCIT:C60781|UMLS:C0004114|SNOMEDCT:147101000119108|MESH:D001254
MONDO:0019784	12q14 microdeletion syndrome	biolink:Disease	mondo	SCTID:719046005|UMLS:C4305140|ICD10:Q93.5|Orphanet:94063|UMLS:CN206727|GARD:0013390	ordo_malformation_syndrome|gard_rare	monosomy 12q14|osteopoikilosis-short stature-intellectual disability syndrome|Del(12)(q14)|deletion 12q14	http://purl.obolibrary.org/obo/MONDO_0019784	12q14 microdeletion syndrome is characterised by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis.	UMLS:C4305140|SNOMEDCT:719046005|ORPHA:94063|UMLS:CN206727
MONDO:0017121	syndrome with a Dandy-Walker malformation as major feature	biolink:Disease	mondo	Orphanet:269546|UMLS:CN202471	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017121		UMLS:CN202471|ORPHA:269546
MONDO:0019783	neovascular glaucoma	biolink:Disease	mondo	UMLS:C0017609|DOID:1687|Orphanet:94058|SCTID:232086000|MedDRA:10062891|MESH:D015355|EFO:1001060	ordo_clinical_situation	secondary angle-closure glaucoma with rubeosis	http://purl.obolibrary.org/obo/MONDO_0019783	Neovascular glaucoma is the most common type of secondary glaucoma, usually caused by diabetic retinopathy, central retinal vein occlusion and carotid artery obstruction but sometimes by trauma, uvietis or ocular tumors, and characterized by severe eye pain, synechial angle glaucoma, high intraocular pressure and leading to loss of vision.	MEDDRA:10062891|ORPHA:94058|SNOMEDCT:232086000|DOID:1687|UMLS:C0017609|MESH:D015355
MONDO:0017122	genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature	biolink:Disease	mondo	UMLS:CN202475|Orphanet:269573	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0017122		UMLS:CN202475|ORPHA:269573
MONDO:0017192	sporadic secreting paraganglioma	biolink:Disease	mondo	Orphanet:276627|ICD10:D44.7|UMLS:CN202632|ICD10:C75.5	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017192		UMLS:CN202632|ORPHA:276627
MONDO:0017193	symptomatic form of Coffin-Lowry syndrome in female carriers	biolink:Disease	mondo	ICD10:Q87.0|UMLS:CN202633|Orphanet:276630	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0017193		UMLS:CN202633|ORPHA:276630
MONDO:0032748	spermatogenic failure 38	biolink:Disease	mondo	OMIM:618433		SPERMATOGENIC FAILURE 38; SPGF38	http://purl.obolibrary.org/obo/MONDO_0032748		http://identifiers.org/omim/618433
MONDO:0017194	Blount disease	biolink:Disease	mondo	SCTID:79353000|Orphanet:2768|MESH:C536237|ICD9:736.89|ICD10:M92.5|MedDRA:10072255|GARD:0000916|NCIT:C118460|DOID:14798	ordo_malformation_syndrome|gard_rare	Blount's disease|Blount disease|Osteochondrosis deformans tibiae, familial infantile type|tibia vara|infantile tibia vara|Erlacher-Blount syndrome|Osteochondrosis deformans tibiae|Blount-Barber syndrome|tibia vara Blount|familial infantile type osteochondrosis deformans tibiae	http://purl.obolibrary.org/obo/MONDO_0017194	Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs.	NCIT:C118460|ORPHA:2768|SNOMEDCT:79353000|MESH:C536237|UMLS:C0175756|DOID:14798|MEDDRA:10072255
MONDO:0017195	Bruck syndrome	biolink:Disease	mondo	ICD10:M21.8|UMLS:C0432253|MedDRA:10063718|SCTID:254113006|Orphanet:2771|ICD9:733.99|DOID:0060231	ordo_malformation_syndrome	osteogenesis imperfecta-congenital joint contractures syndrome|osteogenesis imperfecta with congenital joint contractures	http://purl.obolibrary.org/obo/MONDO_0017195	Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures.	SNOMEDCT:254113006|ORPHA:2771|UMLS:C0432253|MEDDRA:10063718|DOID:0060231
MONDO:0032749	deafness, autosomal recessive 94	biolink:Disease	mondo	OMIM:618434|DOID:0111641		DEAFNESS, AUTOSOMAL RECESSIVE 94; DFNB94	http://purl.obolibrary.org/obo/MONDO_0032749		DOID:0111641|http://identifiers.org/omim/618434
MONDO:0032746	hydatidiform mole, recurrent, 3	biolink:Disease	mondo	OMIM:618431		HYDATIDIFORM MOLE, RECURRENT, 3; HYDM3	http://purl.obolibrary.org/obo/MONDO_0032746		http://identifiers.org/omim/618431
MONDO:0032747	hydatidiform mole, recurrent, 4	biolink:Disease	mondo	OMIM:618432		HYDATIDIFORM MOLE, RECURRENT, 4; HYDM4	http://purl.obolibrary.org/obo/MONDO_0032747		http://identifiers.org/omim/618432
MONDO:0032744	spermatogenic failure 37	biolink:Disease	mondo	OMIM:618429		SPERMATOGENIC FAILURE 37; SPGF37	http://purl.obolibrary.org/obo/MONDO_0032744		http://identifiers.org/omim/618429
MONDO:0017190	sporadic pheochromocytoma/secreting paraganglioma	biolink:Disease	mondo	ICD10:C74.1|Orphanet:276621|UMLS:CN202630|GARD:0007385|ICD10:D35.0	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017190	Sporadic pheochromocytoma/secreting paraganglioma are isolated, non-familial, catecholamin-producing tumors arising from neuroendocrine chromaffin cells in the adrenal medulla or in extra-adrenal chromaffin tissue, respectively. The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating.	UMLS:CN202630|ORPHA:276621
MONDO:0032745	developmental delay with variable intellectual impairment and behavioral abnormalities	biolink:Disease	mondo	OMIM:618430		DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; DDVIBA	http://purl.obolibrary.org/obo/MONDO_0032745		http://identifiers.org/omim/618430
MONDO:0017191	sporadic pheochromocytoma	biolink:Disease	mondo	Orphanet:276624|ICD10:D35.0|UMLS:CN202631|ICD10:C74.1	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017191		UMLS:CN202631|ORPHA:276624
HGNC:10825	SH3BP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10825		
MONDO:0044727	pancreatic carcinoma with mixed differentiation	biolink:Disease	mondo	Orphanet:506112|UMLS:C1709050|NCIT:C45843	ordo_disease	mixed neuroendocrine-nonneuroendocrine neoplasm of pancreas|mixed exocrine-endocrine carcinoma of the pancreas|pancreatic mixed neuroendocrine-nonneuroendocrine neoplasm|pancreatic MiNEN|MiNEN of pancreas|pancreatic carcinoma with mixed differentiation	http://purl.obolibrary.org/obo/MONDO_0044727	A rare carcinoma with a poor prognosis, characterized by the presence of a mixture of exocrine and neuroendocrine malignant epithelial cells in both the pancreas and metastatic sites. Symptoms include jaundice, abdominal pain, and weight loss.	NCIT:C45843|ORPHA:506112|UMLS:C1709050
MONDO:0044724	3-methylglutaconic aciduria type 9	biolink:Disease	mondo	UMLS:CN510468|DOID:0070002|OMIM:617698|Orphanet:505216	ordo_disease	3-METHYLGLUTACONIC aciduria, type IX; MGCA9|3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome|3-Methylglutaconic aciduria, type 9|MGA9|3-methylglutaconic acuduria type IX|3-methylglutaconic acuduria type IX, MGCA9|MGCA9	http://purl.obolibrary.org/obo/MONDO_0044724		http://identifiers.org/omim/617698|UMLS:CN510468|ORPHA:505216|DOID:0070002
MONDO:0044723	3-methylglutaconic aciduria type 8	biolink:Disease	mondo	UMLS:C4310650|Orphanet:505208|DOID:0070000|OMIM:617248	ordo_disease	3-methylglutaconic aciduria, type VIII; MGCA8|MGA8|3-methylglutaconic aciduria type VIII|3-Methylglutaconic aciduria, type 8|3-methylglutaconic aciduria type VIII, MGCA8|3-methylglutaconic aciduria, type VIII|MGCA8	http://purl.obolibrary.org/obo/MONDO_0044723		UMLS:C4310650|http://identifiers.org/omim/617248|ORPHA:505208|DOID:0070000
MONDO:0044726	psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	biolink:Disease	mondo	UMLS:CN353477|OMIM:617595|Orphanet:505242	ordo_disease	BILAPES|Birk-Landau-Perez syndrome|Birk-Landau-Perez syndrome; BILAPES|Cerebrorenal syndrome, Perez type	http://purl.obolibrary.org/obo/MONDO_0044726		http://identifiers.org/omim/617595|UMLS:CN353477|ORPHA:505242
MONDO:0044725	combined immunodeficiency due to GINS1 deficiency	biolink:Disease	mondo	OMIM:617827|UMLS:CN737162|Orphanet:505227	ordo_disease	combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia|immunodeficiency 55|IMD55|combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia|Cid due to GINS1 deficiency|immunodeficiency 55; IMD55	http://purl.obolibrary.org/obo/MONDO_0044725		UMLS:CN737162|http://identifiers.org/omim/617827|ORPHA:505227
MONDO:0032753	spastic ataxia 9, autosomal recessive	biolink:Disease	mondo	OMIM:618438		SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE; SPAX9	http://purl.obolibrary.org/obo/MONDO_0032753		http://identifiers.org/omim/618438
MONDO:0032751	arthrogryposis, distal, type 2B3	biolink:Disease	mondo	OMIM:618436|DOID:0111602		arthrogryposis, distal, type 2B3; DA2B3|distal arthrogryposis type 2B3 (Sheldon-Hall)|DA2B3	http://purl.obolibrary.org/obo/MONDO_0032751		http://identifiers.org/omim/618436|DOID:0111602
MONDO:0032752	developmental and epileptic encephalopathy, 75	biolink:Disease	mondo	OMIM:618437		DEE75|epileptic encephalopathy, early infantile, 75|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75; EIEE75	http://purl.obolibrary.org/obo/MONDO_0032752		http://identifiers.org/omim/618437
MONDO:0017196	osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome	biolink:Disease	mondo	SCTID:722110003|MESH:C535617|Orphanet:2773|GARD:0000587|UMLS:CN202641|ICD10:Q87.8	gard_rare|ordo_malformation_syndrome	Al Gazali-Nair syndrome|osteogenesis imperfecta retinopathy seizures intellectual deficit|Al Gazali Sabrinathan Nair syndrome	http://purl.obolibrary.org/obo/MONDO_0017196	Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents.	UMLS:CN202641|ORPHA:2773|SNOMEDCT:722110003|MESH:C535617
MONDO:0032750	arthrogryposis, distal, type 2B2	biolink:Disease	mondo	OMIM:618435|DOID:0111601		arthrogryposis, distal, type 2B2|DA2B1	http://purl.obolibrary.org/obo/MONDO_0032750		DOID:0111601|http://identifiers.org/omim/618435
MONDO:0017197	osteopathia striata-pigmentary dermopathy-white forelock syndrome	biolink:Disease	mondo	ICD10:Q77.8|MESH:C536054|GARD:0005562|Orphanet:2779|UMLS:C2931096	ordo_malformation_syndrome	osteopathia striata associated with familial dermopathy and white forelock|Whyte Murphy syndrome|Whyte-Murphy syndrome|osteopathia striata with pigmentary dermopathy including white forelock	http://purl.obolibrary.org/obo/MONDO_0017197	Osteopathia striata-pigmentary dermopathy-white forelock syndrome is characterised by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock.	http://identifiers.org/omim/311280|ORPHA:2779|MESH:C536054|UMLS:C2931096
MONDO:0017198	osteopetrosis (disease)	biolink:Disease	mondo	HP:0011002|DOID:13533|OMIMPS:259700|SCTID:1926006|ICD9:756.52|COHD:81403|NCIT:C26840|ICD10:Q78.2|MedDRA:10031280|GARD:0004155|Orphanet:2781	ordo_group_of_disorders	Albers-Schonberg disease|marble bone|marble bone disease|osteopetrosis|Albers-Schoenberg disease|osteosclerosis fragilis|marble bones|osteopetroses|osteopetrosis and related disorders	http://purl.obolibrary.org/obo/MONDO_0017198	Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs.	MEDDRA:10031280|SNOMEDCT:1926006|NCIT:C26840|ORPHA:2781|MESH:D010022|DOID:13533
MONDO:0017199	osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome	biolink:Disease	mondo	Orphanet:2787|UMLS:CN202651|SCTID:716189005|UMLS:C4274786	ordo_malformation_syndrome	Heide syndrome	http://purl.obolibrary.org/obo/MONDO_0017199	Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome is characterised by osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family.	UMLS:C4274786|UMLS:CN202651|ORPHA:2787|SNOMEDCT:716189005
MONDO:0017181	hypnic headache (disease)	biolink:Disease	mondo	ICD9:339.81|Orphanet:276429|ICD10:G44.8|GARD:0010796|MESH:D051270|HP:0012459|SCTID:122711000119109	ordo_disease	hypnic headache	http://purl.obolibrary.org/obo/MONDO_0017181	Conditions in which the primary symptom is headache and the headache cannot be attributed to any known causes.	UMLS:C0752150|SNOMEDCT:122711000119109|MESH:D051270|ORPHA:276429
MONDO:0017182	familial hyperinsulinism	biolink:Disease	mondo	Orphanet:276525|NCIT:C131425|ICD10:E16.1	ordo_group_of_disorders	familial hyperinsulinemic hypoglycemia|HHI|hereditary hyperinsulinism (disease)|hyperinsulinemic hypoglycemia|hyperinsulinemia of infancy|FHI|congenital hyperinsulinism|Neonatal hyperinsulinism|Nesidioblastosis	http://purl.obolibrary.org/obo/MONDO_0017182	An instance of hyperinsulinism (disease) that is caused by an inherited modification of the individual's genome.	ORPHA:276525|UMLS:C2931834|NCIT:C131425
MONDO:0032759	intellectual developmental disorder with short stature and variable skeletal anomalies	biolink:Disease	mondo	OMIM:618453		INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES; IDDSSA	http://purl.obolibrary.org/obo/MONDO_0032759		http://identifiers.org/omim/618453
MONDO:0017183	hyperinsulinism due to UCP2 deficiency	biolink:Disease	mondo	SCTID:721834007|Orphanet:276556|ICD10:E16.1|UMLS:C4303082	ordo_disease	hyperinsulinemic hypoglycemia due to UCP2 deficiency	http://purl.obolibrary.org/obo/MONDO_0017183	HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.	ORPHA:276556|SNOMEDCT:721834007|UMLS:C4303082
MONDO:0017184	autosomal dominant hyperinsulinism due to SUR1 deficiency	biolink:Disease	mondo	UMLS:CN202625|ICD10:E16.1|Orphanet:276575|UMLS:C4274080|SCTID:717046003	ordo_disease	autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency	http://purl.obolibrary.org/obo/MONDO_0017184	Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism).	ORPHA:276575|UMLS:C4274080|UMLS:CN202625|SNOMEDCT:717046003
MONDO:0032757	ciliary dyskinesia, primary, 41	biolink:Disease	mondo	OMIM:618449		CILIARY DYSKINESIA, PRIMARY, 41; CILD41	http://purl.obolibrary.org/obo/MONDO_0032757		http://identifiers.org/omim/618449
MONDO:0032758	neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	biolink:Disease	mondo	OMIM:618451		NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA; NDCAMA	http://purl.obolibrary.org/obo/MONDO_0032758		http://identifiers.org/omim/618451
MONDO:0032755	neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	biolink:Disease	mondo	OMIM:618443		NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES; NEDBA	http://purl.obolibrary.org/obo/MONDO_0032755		http://identifiers.org/omim/618443
MONDO:0032756	long qt syndrome 8	biolink:Disease	mondo	OMIM:618447		LONG QT SYNDROME 8; LQT8	http://purl.obolibrary.org/obo/MONDO_0032756		http://identifiers.org/omim/618447
MONDO:0017180	10q22.3q23.3 microduplication syndrome	biolink:Disease	mondo	Orphanet:276422|ICD10:Q92.3|UMLS:CN202619	ordo_malformation_syndrome	dup(10)(q22.3q23.3)|trisomy 10q22.3q23.3	http://purl.obolibrary.org/obo/MONDO_0017180		UMLS:CN202619|ORPHA:276422
GO:0032468	Golgi calcium ion homeostasis	biolink:OntologyClass	mondo			regulation of calcium ion concentration in Golgi|calcium ion homeostasis in Golgi|regulation of Golgi calcium ion concentration|Golgi calcium ion concentration regulation	http://purl.obolibrary.org/obo/GO_0032468	Any process involved in the maintenance of an internal steady state of calcium ions within the Golgi apparatus of a cell or between the Golgi and its surroundings.	
MONDO:0044742	autosomal recessive epidermolytic ichthyosis	biolink:Disease	mondo	Orphanet:512103	ordo_disease	AREI	http://purl.obolibrary.org/obo/MONDO_0044742		ORPHA:512103
MONDO:0044744	prekallikrein deficiency	biolink:Disease	mondo	SCTID:48976006|NCIT:C99022		prekallikrein deficiency	http://purl.obolibrary.org/obo/MONDO_0044744	A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease.	NCIT:C99022|SNOMEDCT:48976006
MONDO:0044743	major salivary gland cancer	biolink:Disease	mondo	UMLS:C0496763|SCTID:363378008|NCIT:C4762		malignant tumor of major salivary gland|malignant Major salivary gland neoplasm|malignant major salivary gland neoplasm|cancer of major salivary gland|malignant neoplasm of major salivary glands|malignant tumor of Major salivary gland|malignant tumor of the Major salivary gland|malignant neoplasm of Major salivary gland|malignant neoplasm of major salivary gland|malignant neoplasm of the Major salivary gland|malignant Major salivary gland tumor	http://purl.obolibrary.org/obo/MONDO_0044743	A primary or metastatic malignant neoplasm affecting the major salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma.	SNOMEDCT:363378008|NCIT:C4762|UMLS:C0496763
MONDO:0044740	salivary gland squamous cell carcinoma	biolink:Disease	mondo	NCIT:C7991|EFO:1001967|Orphanet:500481|UMLS:C0279697	ordo_histopathological_subtype	squamous cell carcinoma of salivary gland|squamous cell carcinoma of the salivary gland|SCC of salivary gland|SCC of the salivary gland|salivary gland squamous cell cancer|epidermoid carcinoma of salivary gland|squamous cell carcinoma of salivary glands|salivary gland squamous cell carcinoma|epidermoid carcinoma of the salivary gland|saliva-secreting gland squamous cell carcinoma|salivary gland SCC|salivary gland epidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0044740	A squamous cell carcinoma arising from the salivary glands. The majority of patients are in their sixth through eight decades. It usually presents as a rapidly enlarging mass, which may be painful. It usually has an aggressive clinical course.	ORPHA:500481|NCIT:C7991|UMLS:C0279697
MONDO:0044739	Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome	biolink:Disease	mondo	ICD10:L51.8|Orphanet:506784	ordo_clinical_subtype	Stevens-Johnson/TEN overlap syndrome|Stevens-Johnson/toxic epidermal necrolysis overlap syndrome|SJS/TEN overlap syndrome	http://purl.obolibrary.org/obo/MONDO_0044739		ORPHA:506784
MONDO:0044738	Gabriele de Vries syndrome	biolink:Disease	mondo	UMLS:C4479652|OMIM:617557|Orphanet:506358	ordo_malformation_syndrome	Gabriele-De Vries syndrome|GADEVS|Gabriele-de Vries syndrome; GADEVS|YY1 haploinsufficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0044738		UMLS:C4479652|http://identifiers.org/omim/617557|ORPHA:506358
MONDO:0044737	autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction	biolink:Disease	mondo	Orphanet:506353	ordo_disease	autosomal recessive complex SPG due to Kennedy pathway dysfunction	http://purl.obolibrary.org/obo/MONDO_0044737		ORPHA:506353
MONDO:0017189	adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia	biolink:Disease	mondo	SCTID:717044000|Orphanet:276608|ICD10:E16.1|UMLS:C4274082	ordo_disease	NI-PHH	http://purl.obolibrary.org/obo/MONDO_0017189	Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulinism caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide	ORPHA:276608|UMLS:C4274082|SNOMEDCT:717044000
MONDO:0032764	Khan-Khan-Katsanis syndrome	biolink:Disease	mondo	OMIM:618460		3K Syndrome|KHAN-KHAN-KATSANIS SYNDROME; 3KS	http://purl.obolibrary.org/obo/MONDO_0032764		http://identifiers.org/omim/618460
MONDO:0032765	bleeding disorder, platelet-type, 22	biolink:Disease	mondo	OMIM:618462		BLEEDING DISORDER, PLATELET-TYPE, 22; BDPLT22	http://purl.obolibrary.org/obo/MONDO_0032765		http://identifiers.org/omim/618462
MONDO:0032762	deafness, autosomal recessive 115	biolink:Disease	mondo	OMIM:618457|DOID:0111643		DEAFNESS, AUTOSOMAL RECESSIVE 115; DFNB115	http://purl.obolibrary.org/obo/MONDO_0032762		http://identifiers.org/omim/618457|DOID:0111643
MONDO:0032763	immunodeficiency 62	biolink:Disease	mondo	OMIM:618459		IMMUNODEFICIENCY 62; IMD62	http://purl.obolibrary.org/obo/MONDO_0032763		http://identifiers.org/omim/618459
MONDO:0017185	autosomal dominant hyperinsulinism due to Kir6.2 deficiency	biolink:Disease	mondo	Orphanet:276580|UMLS:CN202626|ICD10:E16.1|UMLS:C4274081|SCTID:717045004	ordo_disease	dominant KATP hyperinsulinism due to Kir6.2 deficiency|autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency	http://purl.obolibrary.org/obo/MONDO_0017185	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism).	ORPHA:276580|UMLS:C4274081|UMLS:CN202626|SNOMEDCT:717045004
MONDO:0032760	developmental delay with or without dysmorphic facies and autism	biolink:Disease	mondo	OMIM:618454		DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM; DEDDFA	http://purl.obolibrary.org/obo/MONDO_0032760		http://identifiers.org/omim/618454
MONDO:0017186	diazoxide-resistant hyperinsulinism	biolink:Disease	mondo	ICD10:E16.1|Orphanet:276585	ordo_group_of_disorders	diazoxide-resistant hyperinsulinemic hypoglycemia	http://purl.obolibrary.org/obo/MONDO_0017186	Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulism caused by an abnormal insulin production by B-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide.	ORPHA:276585
MONDO:0032761	deafness, autosomal recessive 114	biolink:Disease	mondo	OMIM:618456|DOID:0111642		DEAFNESS, AUTOSOMAL RECESSIVE 114; DFNB114	http://purl.obolibrary.org/obo/MONDO_0032761		DOID:0111642|http://identifiers.org/omim/618456
MONDO:0017187	diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency	biolink:Disease	mondo	Orphanet:276598|ICD10:E16.1	ordo_disease	hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form	http://purl.obolibrary.org/obo/MONDO_0017187		ORPHA:276598
MONDO:0017188	diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency	biolink:Disease	mondo	ICD10:E16.1|Orphanet:276603	ordo_disease	hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form	http://purl.obolibrary.org/obo/MONDO_0017188		ORPHA:276603
MONDO:0017170	idiopathic recurrent stupor	biolink:Disease	mondo	Orphanet:276174|SCTID:763739002|UMLS:CN202595	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017170	Idiopathic recurrent stupor is a rare neurologic disease characterized by unpredictable, transient and spontaneous unresponsiveness lasting from hours to days, with a frequency of three to seven attacks per year, in the absence of readily discernible toxic, metabolic or structural causes.	UMLS:CN202595|SNOMEDCT:763739002|ORPHA:276174
MONDO:0017171	mucopolysaccharidosis type 6, rapidly progressing	biolink:Disease	mondo	ICD10:E76.2|UMLS:CN202600|Orphanet:276212	ordo_clinical_subtype	mucopolysaccharidosis type VI, rapidly progressing|MPSVI, rapidly progressing|MPS6, rapidly progressing|arylsulfatase B deficiency, rapidly progressing	http://purl.obolibrary.org/obo/MONDO_0017171		ORPHA:276212|UMLS:CN202600
MONDO:0017172	mucopolysaccharidosis type 6, slowly progressing	biolink:Disease	mondo	ICD10:E76.2|UMLS:CN202601|Orphanet:276223	ordo_clinical_subtype	arylsulfatase B deficiency, slowly progressing|MPS6, slowly progressing|MPSVI, slowly progressing|mucopolysaccharidosis type VI, slowly progressing	http://purl.obolibrary.org/obo/MONDO_0017172		ORPHA:276223|UMLS:CN202601
HGNC:10809	SGCG	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10809		
MONDO:0017173	non-syndromic male infertility due to sperm motility disorder	biolink:Disease	mondo	UMLS:CN202602|ICD10:N46|Orphanet:276234	ordo_disease	isolated male infertility due to sperm motility disorder|nonsyndromic male infertility due to sperm motility disorder|isolated male infertility due to sperm motility disorder|non-syndromic male infertility due asthenozoospermia	http://purl.obolibrary.org/obo/MONDO_0017173	Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate. Reduced semen volume, oligospermia and an increased number of abnormally structured spermatozoa is often present.	ORPHA:276234|UMLS:CN202602
MONDO:0030105	galactosemia 4	biolink:Disease	mondo	OMIM:618881|Orphanet:570422		galactosemia iv|Galactose Mutarotase Deficiency|GALAC4|GALACTOSEMIA IV; GALAC4	http://purl.obolibrary.org/obo/MONDO_0030105		ORPHA:570422|http://identifiers.org/omim/618881
MONDO:0032768	developmental and epileptic encephalopathy, 76	biolink:Disease	mondo	OMIM:618468		Developmental Delay, Epileptic Encephalopathy, Cerebral Atrophy, and Abnormal Myelination|DEE76|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76; EIEE76|epileptic encephalopathy, early infantile, 76	http://purl.obolibrary.org/obo/MONDO_0032768		http://identifiers.org/omim/618468
MONDO:0032766	hypoalphalipoproteinemia, primary, 2	biolink:Disease	mondo	OMIM:618463		HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2|High Density Lipoprotein Deficiency|Apolipoprotein A-I Deficiency	http://purl.obolibrary.org/obo/MONDO_0032766		http://identifiers.org/omim/618463
MONDO:0032767	paragangliomas 6	biolink:Disease	mondo	OMIM:618464		PARAGANGLIOMAS 6; PGL6	http://purl.obolibrary.org/obo/MONDO_0032767		http://identifiers.org/omim/618464
MONDO:0044753	lumbar spinal stenosis	biolink:Disease	mondo	SCTID:18347007|HP:0004610|ICD9:724.02|UMLS:C0158288		lumbar spinal stenosis|lumbar region of vertebral column spinal stenosis|spinal stenosis of lumbar region|spinal stenosis of lumbar region of vertebral column	http://purl.obolibrary.org/obo/MONDO_0044753	A spinal stenosis that involves the lumbar region of vertebral column.	SNOMEDCT:18347007|UMLS:C0158288
MONDO:0005189	internal carotid artery stenosis	biolink:Disease	mondo	ICD9:433.10|SCTID:233964008|EFO:0002615|Wikipedia:Carotid_artery_stenosis			http://purl.obolibrary.org/obo/MONDO_0005189	Carotid stenosis is a narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis. The internal carotid artery supplies the brain. Plaque often builds up at that division, and causes a narrowing (stenosis). Pieces of plaque can break off and block the small arteries above in the brain, which causes a stroke. Plaque can also build up at the origin of the carotid artery at the aorta.	SNOMEDCT:233964008
MONDO:0005188	iatrogenic Kaposi's sarcoma	biolink:Disease	mondo	NCIT:C35873|UMLS:C1334149|EFO:0002613		iatrogenic Kaposi sarcoma|iatrogenic Kaposi's sarcoma	http://purl.obolibrary.org/obo/MONDO_0005188	A Kaposi sarcoma that develops after organ transplantation or immunosuppressive treatment.	UMLS:C1334149|NCIT:C35873
GO:0007499	ectoderm and mesoderm interaction	biolink:OntologyClass	mondo			ectoderm/mesoderm interaction	http://purl.obolibrary.org/obo/GO_0007499	A cell-cell signaling process occurring between the two gastrulation-generated layers of the ectoderm and the mesoderm.	
GO:0007498	mesoderm development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0007498	The process whose specific outcome is the progression of the mesoderm over time, from its formation to the mature structure. The mesoderm is the middle germ layer that develops into muscle, bone, cartilage, blood and connective tissue.	
HGNC:10801	SFTPB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10801		
HGNC:10802	SFTPC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10802		
MONDO:0005185	chronic childhood arthritis	biolink:Disease	mondo	EFO:0002609|SCTID:410793008|Wikipedia:Juvenile_idiopathic_arthritis|NCIT:C27179		Juvenile rheumatoid arthritis|Juvenile rheumatoid arthritis (AQ)|JRA|Juvenile rheumatoid arthritis	http://purl.obolibrary.org/obo/MONDO_0005185	An older, deprecated term that encompassed three major types of autoimmune or autoinflammatory arthritis in children: systemic-onset, pauciarticular, or polyarticular arthritis. The juvenile rheumatoid arthritis classification system has been replaced by the International League of Associations for Rheumatology (ILAR) juvenile idiopathic arthritis classification system.	NCIT:C27179|SNOMEDCT:410793008
HGNC:10807	SGCD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10807		
CHEBI:67079	anti-inflammatory agent	biolink:ChemicalSubstance	mondo			anti-inflammatory agents|antiinflammatory agent|antiinflammatory agents	http://purl.obolibrary.org/obo/CHEBI_67079	Any compound that has anti-inflammatory effects.	
MONDO:0005184	pancreatic ductal adenocarcinoma	biolink:Disease	mondo	ICD9:157.3|DOID:3498|NCIT:C9120|ICD10:C25.3|EFO:0002517|UMLS:C0887833|MESH:D021441|UMLS:C1335302|DOID:3587		pancreatic ductal adenocarcinoma|pancreatic ductal carcinoma|ductal adenocarcinoma of pancreas|pancreatic duct adenocarcinoma|ductal adenocarcinoma of the pancreas|pancreatic infiltrating duct carcinoma, not otherwise specified|pancreatic duct cancer|pancreatic tubular adenocarcinoma|malignant neoplasm of duct of Wirsung|pancreas ductal adenocarcinoma|pancreatic infiltrating duct carcinoma, NOS	http://purl.obolibrary.org/obo/MONDO_0005184	An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor.	UMLS:C1335302|MESH:D021441|UMLS:C0887833|NCIT:C9120|DOID:3587|DOID:3498
HGNC:10808	SGCE	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10808		
HGNC:10805	SGCA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10805		
MONDO:0005187	human herpesvirus 8 infection	biolink:Disease	mondo	NCIT:C39291|EFO:0002612|UMLS:C1512508		HHV8 infection|Human Herpes Virus 8 infection|Human Herpesvirus 8 infection	http://purl.obolibrary.org/obo/MONDO_0005187	An infectious process caused by the human herpesvirus 8. This infection is associated with Kaposi sarcoma.	NCIT:C39291|UMLS:C1512508
MONDO:0044751	chronic diarrheal disease	biolink:Disease	mondo	UMLS:C0401151|SCTID:236071009		diarrheal disease, chronic|chronic diarrhea	http://purl.obolibrary.org/obo/MONDO_0044751	Chronic form of diarrheal disease.	UMLS:C0401151|SNOMEDCT:236071009
HGNC:10806	SGCB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10806		
MONDO:0005186	cocaine dependence	biolink:Disease	mondo	SCTID:31956009|ICD9:304.2|ICD10:F14.2|NCIT:C34492|ICD9:304.20|DOID:9975|EFO:0002610		cocaine addiction	http://purl.obolibrary.org/obo/MONDO_0005186	A psychologically and socially impaired state, with or without physiological changes, that develops as a result of using cocaine and which leads to compulsive behaviors to acquire the substance.	SNOMEDCT:31956009|DOID:9975|NCIT:C34492
MONDO:0044750	lassa virus infectious disease	biolink:Disease	mondo	UMLS:C1617072|SCTID:721779001		Lassa virus infection|infection caused by Lassa virus	http://purl.obolibrary.org/obo/MONDO_0044750		UMLS:C1617072|SNOMEDCT:721779001
MONDO:0005181	progressive external ophthalmoplegia	biolink:Disease	mondo	EFO:0002509|ICD9:378.72|HP:0000590|MESH:D017246|GARD:0004503|Orphanet:520820|ICD10:H49.4|SCTID:46252003|DOID:12558|COHD:379027	ordo_group_of_disorders	progressive external ophthalmoplegia|chronic progressive external ophthalmoplegia [ambiguous]|chronic progressive external ophthalmoplegia	http://purl.obolibrary.org/obo/MONDO_0005181	A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)	DOID:12558|MESH:D017246|SNOMEDCT:46252003|ORPHA:520820
MONDO:0044749	X-linked congenital stationary night blindness	biolink:Disease	mondo	UMLS:CN043584|GARD:0003995	gard_rare	congenital stationary night blindness, X-linked|XLCSNB|X-linked CSNB	http://purl.obolibrary.org/obo/MONDO_0044749	X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus,and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There aretwo major types of XLCSNB: the complete form and the incomplete form. Bothtypes have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause.	UMLS:CN043584
MONDO:0005180	Parkinson disease	biolink:Disease	mondo	ICD9:332.0|NIFSTD:birnlex_2098|OMIMPS:168600|ICD9:332|NCIT:C26845|DOID:14330|EFO:0002508|SCTID:49049000|MESH:D010300|KEGG:05012|ICD10:G20|UMLS:C0030567|COHD:381270		Parkinson's disease|paralysis agitans	http://purl.obolibrary.org/obo/MONDO_0005180	A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression.	NCIT:C26845|SNOMEDCT:49049000|UMLS:C0030567|DOID:14330|MESH:D010300
MONDO:0005183	ovarian cystadenoma	biolink:Disease	mondo	SCTID:198297004|NCIT:C4060|ICD9:620.2|DOID:3269|UMLS:C0346169|EFO:0002511		cystadenoma of the ovary|cystadenoma of ovary|benign cystadenoma of the ovary|benign ovarian cystadenoma|benign cystadenoma of ovary|ovary cystadenoma|ovarian cystadenoma|cystoma serosum simplex|simple cystoma of ovary|simple ovarian cystoma|simple cystoma of the ovary	http://purl.obolibrary.org/obo/MONDO_0005183	A benign ovarian surface epithelial-stromal tumor characterized by the presence of cystic structures lined by serous epithelial cells, mucinous columnar epithelial cells, or endometrial-type well-differentiated cells.	NCIT:C4060|UMLS:C0346169|SNOMEDCT:198297004|DOID:3269
MONDO:0005182	serous cystadenofibroma	biolink:Disease	mondo	EFO:0002510			http://purl.obolibrary.org/obo/MONDO_0005182	A benign neoplasm characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma. Most commonly the primary site is the ovary, but serous cystadenofibromas can occur in the pancreas as well.	
MONDO:0044746	zoonotic bacterial infection	biolink:Disease	mondo	NCIT:C35373|UMLS:C0311376		Bacteria caused zoonoses|zoonotic bacterial infection|zoonotic bacterial disease|Bacteria zoonoses	http://purl.obolibrary.org/obo/MONDO_0044746	A bacterial infection that is transmitted from animals to people.	UMLS:C0311376|NCIT:C35373
MONDO:0044745	nervous system injury	biolink:Disease	mondo	SCTID:128239009|MESH:D020196		craniocervical injury|nervous system Traumas|nervous system trauma|injury, nervous system|nervous system injury|injury, craniocervical|craniocervical Injuries|nervous system Injuries|injury of nervous system|Injuries, craniocervical|Injuries, nervous system	http://purl.obolibrary.org/obo/MONDO_0044745	Traumatic injuries to the brain, cranial nerves, spinal cord, autonomic nervous system, or neuromuscular system, including iatrogenic injuries induced by surgical procedures.	MESH:D020196|SNOMEDCT:128239009
GO:0044403	biological process involved in symbiotic interaction	biolink:OntologyClass	mondo			symbiosis|symbiotic process|symbiotic interaction between host and organism|symbiosis, encompassing mutualism through parasitism|symbiotic interaction between organisms|host-pathogen interaction|commensalism|symbiotic interaction between species|parasitism|symbiotic interaction	http://purl.obolibrary.org/obo/GO_0044403	A process carried out by gene products in an organism that enable the organism to engage in a symbiotic relationship, a more or less intimate association, with another organism. The various forms of symbiosis include parasitism, in which the association is disadvantageous or destructive to one of the organisms; mutualism, in which the association is advantageous, or often necessary to one or both and not harmful to either; and commensalism, in which one member of the association benefits while the other is not affected. However, mutualism, parasitism, and commensalism are often not discrete categories of interactions and should rather be perceived as a continuum of interaction ranging from parasitism to mutualism. In fact, the direction of a symbiotic interaction can change during the lifetime of the symbionts due to developmental changes as well as changes in the biotic/abiotic environment in which the interaction occurs. Microscopic symbionts are often referred to as endosymbionts.	
MONDO:0044748	anaplasmosis in cattle	biolink:Disease	mondo	MESH:D000712		Anaplasmoses	http://purl.obolibrary.org/obo/MONDO_0044748	A disease of cattle caused by parasitization of the red blood cells by bacteria of the genus ANAPLASMA.	MESH:D000712
MONDO:0044747	human anaplasmosis	biolink:Disease	mondo	SCTID:427481004|ICD9:082.49|NCIT:C128425		Anaplasmoses|human anaplasmosis|anaplasmosis	http://purl.obolibrary.org/obo/MONDO_0044747	An infection that is caused by Anaplasma phagocytophilum, which is transmitted to humans by infected ticks; it is characterized by fever, headache, chills, and myalgia.	NCIT:C128425|SNOMEDCT:427481004
MONDO:0017178	osteochondritis dissecans (disease)	biolink:Disease	mondo	MESH:D010008|Orphanet:251262|OMIM:165800|COHD:437359|ICD9:732.7|DOID:84|GARD:0004133|NCIT:C34878|MedDRA:10031231|SCTID:82562007|ICD10:M93.9|UMLS:C0029421|ICD10:M93.2|Orphanet:2764|HP:0010886	ordo_disease	osteochondritis dissecans|familial osteochondritis dissecans|SSOAOD|osteochondritis DISSECANS, short stature, and early-onset osteoarthritis|osteochondritis DISSECANS, short stature, and early-onset osteoarthritis; OD|OCD|osteochondritis dissecans and short stature|König disease|OD|Koenig disease|short stature and advanced bone Age, with or without early-onset osteoarthritis and/Or osteochondritis Dissecans|short stature and advanced bone AGE, with or without early-onset osteoarthritis and/OR osteochondritis DISSECANS; SSOAOD|Konig disease	http://purl.obolibrary.org/obo/MONDO_0017178	Osteochondritis dissecans (OCD) is a rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis.	MESH:D010008|http://identifiers.org/omim/165800|ORPHA:251262|MEDDRA:10031231|UMLS:C0029421|DOID:84|SNOMEDCT:82562007|ORPHA:2764|NCIT:C34878
MONDO:0032775	neurodevelopmental disorder with seizures and speech and walking impairment	biolink:Disease	mondo	OMIM:618480		NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT; NEDSSWI	http://purl.obolibrary.org/obo/MONDO_0032775		http://identifiers.org/omim/618480
MONDO:0032776	deafness, autosomal recessive 99	biolink:Disease	mondo	DOID:0111634|OMIM:618481		DEAFNESS, AUTOSOMAL RECESSIVE 99; DFNB99	http://purl.obolibrary.org/obo/MONDO_0032776		http://identifiers.org/omim/618481|DOID:0111634
MONDO:0017179	limbic encephalitis with caspr2 antibodies	biolink:Disease	mondo	ICD10:G13.1|SCTID:763793004|Orphanet:276402	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017179	Limbic encephalitis with caspr2 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive deficits, psychiatric disturbances (e.g. personality changes), seizures, peripheral nerve hyperexcitability, dysautonomia, neuropathic pain, insomnia and weight loss, in association with detection of caspr2 antibodies in serum or cerebrospinal fluid, with or without underlying malignancies. Other features reported include blepharoclonus, myoclonic status epilepticus, and dyskinesia.	ORPHA:276402|SNOMEDCT:763793004
MONDO:0032773	uridine-cytidineuria	biolink:Disease	mondo	OMIM:618477		URIDINE-CYTIDINEURIA; URCTU	http://purl.obolibrary.org/obo/MONDO_0032773		http://identifiers.org/omim/618477
MONDO:0032774	cerebellar, ocular, craniofacial, and genital syndrome	biolink:Disease	mondo	OMIM:618479		CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME; COFG	http://purl.obolibrary.org/obo/MONDO_0032774		http://identifiers.org/omim/618479
MONDO:0017174	Machado-Joseph disease type 1	biolink:Disease	mondo	SCTID:91953003|Orphanet:276238|ICD10:G11.8	ordo_clinical_subtype	azorean disease, type i|spinocerebellar ataxia type 3, Joseph type|SCA3, Joseph type	http://purl.obolibrary.org/obo/MONDO_0017174	Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD) characterized by the presence of marked pyramidal and extrapyramidal signs.	ORPHA:276238|UMLS:C0751668|SNOMEDCT:91953003
MONDO:0032771	paragangliomas 7	biolink:Disease	mondo	OMIM:618475		PARAGANGLIOMAS 7; PGL7	http://purl.obolibrary.org/obo/MONDO_0032771		http://identifiers.org/omim/618475
MONDO:0017175	Machado-Joseph disease type 2	biolink:Disease	mondo	Orphanet:276241|ICD10:G11.8|SCTID:91954009	ordo_clinical_subtype	spinocerebellar ataxia, Thomas type|SCA3, Thomas type|azorean disease, type ii	http://purl.obolibrary.org/obo/MONDO_0017175	Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs.	ORPHA:276241|SNOMEDCT:91954009|UMLS:C0751669
MONDO:0032772	brain abnormalities, neurodegeneration, and dysosteosclerosis	biolink:Disease	mondo	OMIM:618476		BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS; BANDDOS	http://purl.obolibrary.org/obo/MONDO_0032772		http://identifiers.org/omim/618476
MONDO:0017176	Machado-Joseph disease type 3	biolink:Disease	mondo	SCTID:91955005|ICD10:G11.8|Orphanet:276244	ordo_clinical_subtype	SCA3, Machado type|spinocerebellar ataxia type 3, Machado type|azorean disease, type iii	http://purl.obolibrary.org/obo/MONDO_0017176	Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy.	ORPHA:276244|SNOMEDCT:91955005|UMLS:C0751670
MONDO:0017177	hemihyperplasia-multiple lipomatosis syndrome	biolink:Disease	mondo	Orphanet:276280|UMLS:CN202613|ICD10:Q87.3	ordo_malformation_syndrome	HHML	http://purl.obolibrary.org/obo/MONDO_0017177	Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated.	ORPHA:276280|UMLS:CN202613
MONDO:0032770	intellectual developmental disorder with severe speech and ambulation defects	biolink:Disease	mondo	OMIM:618470		INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS; IDDSSAD	http://purl.obolibrary.org/obo/MONDO_0032770		http://identifiers.org/omim/618470
MONDO:0017160	behavioral variant of frontotemporal dementia	biolink:Disease	mondo	ICD10:G31.0|Orphanet:275864|SCTID:716994006|UMLS:C4011788	ordo_disease	bv-FTD	http://purl.obolibrary.org/obo/MONDO_0017160	Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy.	UMLS:C4011788|ORPHA:275864|SNOMEDCT:716994006
MONDO:0017161	frontotemporal dementia with motor neuron disease	biolink:Disease	mondo	UMLS:C3888102|OMIMPS:105550|UMLS:CN239493|Orphanet:275872	ordo_disease	frontotemporal dementia with ALS|FTD-MND|frontotemporal dementia with amyotrophic lateral sclerosis|FTDALS|FTD-ALS	http://purl.obolibrary.org/obo/MONDO_0017161	Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis). The disease is progressive, with death occurring 2-5 years after onset.	ORPHA:275872|UMLS:C3888102|UMLS:CN239493
MONDO:0017162	imperforate oropharynx-costo vetebral anomalies syndrome	biolink:Disease	mondo	UMLS:CN202584|GARD:0002989|Orphanet:2759	ordo_malformation_syndrome	Seghers syndrome|imperforate oropharynx-costovertebral anomalies syndrome|imperforate oropharynx-costo vetebral anomalies	http://purl.obolibrary.org/obo/MONDO_0017162	Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.	UMLS:CN202584|ORPHA:2759
MONDO:0030116	silver-russell syndrome 2	biolink:Disease	mondo	OMIM:618905		SILVER-RUSSELL SYNDROME 2; SRS2|silver-russell syndrome 2|Uniparental Disomy, Maternal, Chromosome 7|SRS2	http://purl.obolibrary.org/obo/MONDO_0030116		http://identifiers.org/omim/618905
MONDO:0032779	neurodevelopmental disorder with microcephaly and structural brain anomalies	biolink:Disease	mondo	OMIM:618492		NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES; NEDMIBA	http://purl.obolibrary.org/obo/MONDO_0032779		http://identifiers.org/omim/618492
MONDO:0032777	generalized epilepsy with febrile seizures plus, type 10	biolink:Disease	mondo	DOID:0111296|OMIM:618482		Gefs+, Type 10|GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10; GEFSP10	http://purl.obolibrary.org/obo/MONDO_0032777		http://identifiers.org/omim/618482|DOID:0111296
MONDO:0030118	silver-russell syndrome 4	biolink:Disease	mondo	OMIM:618907		SILVER-RUSSELL SYNDROME 4; SRS4|silver-russell syndrome 4|SRS4	http://purl.obolibrary.org/obo/MONDO_0030118		http://identifiers.org/omim/618907
MONDO:0032778	arthrogryposis multiplex congenita 3, myogenic type	biolink:Disease	mondo	OMIM:618484		AMCM|arthrogryposis multiplex congenita, myogenic type	http://purl.obolibrary.org/obo/MONDO_0032778		http://identifiers.org/omim/618484
MONDO:0029145	orofacial cleft 8	biolink:Disease	mondo	OMIM:618149|DOID:0080401		OROFACIAL CLEFT 8; OFC8|OFC8|Cleft 51P With or Without Cleft Palate, Nonsyndromic, 8	http://purl.obolibrary.org/obo/MONDO_0029145		http://identifiers.org/omim/618149|DOID:0080401
MONDO:0044764	benign choroid plexus neoplasm	biolink:Disease	mondo	UMLS:C0346290|NCIT:C8405|SCTID:254943007		benign choroid plexus neoplasms|benign choroid plexus neoplasm|benign choroid plexus tumors|benign tumor of choroid plexus|benign tumor of the choroid plexus|benign neoplasm of choroid plexus|benign choroid plexus tumor|benign neoplasm of the choroid plexus	http://purl.obolibrary.org/obo/MONDO_0044764		UMLS:C0346290|SNOMEDCT:254943007|NCIT:C8405
MONDO:0029144	extraoral halitosis due to methanethiol oxidase deficiency	biolink:Disease	mondo	OMIM:618148		MTO Deficiency|EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY; EHMTO|EHMTO|extraoral halitosis with dimethylsulfoxiduria|METHANETHIOL Oxidase Deficiency	http://purl.obolibrary.org/obo/MONDO_0029144		http://identifiers.org/omim/618148
MONDO:0044763	diarrheal disease secondary to decreased bowel motility	biolink:Disease	mondo			diarrhea from decreased bowel motility	http://purl.obolibrary.org/obo/MONDO_0044763	A diarrhea that results from decreased motility in the bowel; the resultant bowel stasis encourages bacterial overgrowth and subsequent bile salt deconjugation. Diarrhea is then the direct result of fat malabsorption and increased colonic secretion.	
MONDO:0005199	obsolete peripartum cardiomyopathy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005199		
MONDO:0029143	intellectual developmental disorder with hypertelorism and distinctive facies	biolink:Disease	mondo	OMIM:618147		chromosome 14q32 deletion syndrome|IDDHDF|INTELLECTUAL DEVELOPMENTAL disorder WITH HYPERTELORISM AND DISTINCTIVE FACIES; IDDHDF	http://purl.obolibrary.org/obo/MONDO_0029143		http://identifiers.org/omim/618147
MONDO:0044766	obsolete Marfan Syndrome 3	biolink:Disease	mondo	GTR:AN0100578|GTR:AN0100577|UMLS:CN035813		Marfan syndrome type 3|MFS 3	http://purl.obolibrary.org/obo/MONDO_0044766		UMLS:CN035813
MONDO:0044765	steroid-resistant nephrotic syndrome	biolink:Disease	mondo	UMLS:CN034406|SCTID:236381000|NCIT:C122798|GTR:AN0096395|GTR:AN0200342|GTR:AN0255485|GTR:AN0096391		steroid-unresponsive nephrotic syndrome|nephrotic syndrome of childhood - steroid resistant|nephrotic syndrome, steroid-resistant, autosomal recessive|steroid-resistant nephrotic syndrome|NPHS2|nephrotic syndrome-steroid-resistant|nephrotic syndrome, idiopathic, steroid-resistant|SRNS - steroid-resistant nephrotic syndrome	http://purl.obolibrary.org/obo/MONDO_0044765	Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids.	SNOMEDCT:236381000|UMLS:CN034406|NCIT:C122798
MONDO:0029142	deafness, autosomal recessive 111	biolink:Disease	mondo	OMIM:618145|DOID:0111640		DFNB111|deafness, autosomal recessive 111; DFNB111	http://purl.obolibrary.org/obo/MONDO_0029142		DOID:0111640|http://identifiers.org/omim/618145
MONDO:0005196	obsolete teratozoospermia	biolink:Disease	mondo	UMLS:C0403824|EFO:0002625|SCTID:236817003|MP:0005578			http://purl.obolibrary.org/obo/MONDO_0005196	Presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends	UMLS:C0403824|SNOMEDCT:236817003
HGNC:10818	SGSH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10818		
MONDO:0005195	septic peritonitis	biolink:Disease	mondo	Wikipedia:Septic_peritonitis|EFO:0002623|PMID:22911262			http://purl.obolibrary.org/obo/MONDO_0005195	Septic peritonitis is an inflammatory condition of the peritoneum that occurs secondary to microbial contamination. This clinically important condition has a wide variety of clinical courses as well as high morbidity and mortality due to secondary multiorgan dysfunction. This article reviews the etiology and pathophysiology of this condition and its diagnosis in small animals; a companion article addresses treatment and prognosis.	
MONDO:0029148	spermatogenic failure 34	biolink:Disease	mondo	OMIM:618153		SPGF34|SPERMATOGENIC FAILURE 34; SPGF34	http://purl.obolibrary.org/obo/MONDO_0029148		http://identifiers.org/omim/618153
MONDO:0005198	vulvar intraepithelial neoplasia	biolink:Disease	mondo	Orphanet:137583|EFO:0002627|NCIT:C4756|UMLS:C0346210|ICD10:D07.1	ordo_disease	squamous vulvar intraepithelial neoplasia|vulvar intraepithelial tumor|vulva intraepithelial neoplasia|VIN|vulval intraepithelial neoplasia|intraepithelial neoplasia of the vulva|intraepithelial neoplasia of vulva	http://purl.obolibrary.org/obo/MONDO_0005198	Intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. This category includes vulvar high grade squamous intraepithelial lesion and vulvar intraepithelial neoplasia, differentiated type.	UMLS:C0346210|NCIT:C4756|ORPHA:137583
MONDO:0044762	diarrheal disease secondary to increased bowel motility	biolink:Disease	mondo	DOID:0050131		motility-related diarrhea|diarrhea from increased bowel motility	http://purl.obolibrary.org/obo/MONDO_0044762	A diarrhea that results from increased motility in the bowel; significant increases in bowel motility can deliver excessively large volumes of stool to the colon. Diarrhea can result when the maximum colonic absorptive capacity of 4 liters a day is exceeded. Also, an alteration in colonic motility such that bowel contents are emptied before adequate absorption can occur has been offered as a possible explanation for the diarrhea associated with irritable bowel disease.	DOID:0050131
MONDO:0029147	spermatogenic failure 33	biolink:Disease	mondo	OMIM:618152		SPERMATOGENIC FAILURE 33; SPGF33|SPGF33	http://purl.obolibrary.org/obo/MONDO_0029147		http://identifiers.org/omim/618152
HGNC:10817	SGPL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10817		
MONDO:0005197	thymus neoplasm	biolink:Disease	mondo	EFO:0002626|NCIT:C3412|ONCOTREE:THYMUS|UMLS:C3714644|SCTID:127231009|ICD9:239.89|Orphanet:100100	ordo_group_of_disorders	Thymus tumor|thymic neoplasm|neoplasm of the Thymus|thymus neoplasm (disease)|Thymus neoplasm|neoplasm of thymus|thymus tumor|tumor of Thymus|tumor of the Thymus|THYMUS|thymic tumor|tumor of thymus|neoplasm of Thymus	http://purl.obolibrary.org/obo/MONDO_0005197	A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma.	ORPHA:100100|NCIT:C3412|SNOMEDCT:127231009|UMLS:C3714644
MONDO:0029146	obsolete Saul-Wilson syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0029146		
MONDO:0005192	exocrine pancreatic carcinoma	biolink:Disease	mondo	SCTID:372142002|DOID:4905|EFO:0002618|UMLS:C0235974|NCIT:C3850		exocrine cancer|pancreatic cancer|pancreatic cancer (excluding islets), NOS|exocrine pancreas carcinoma|pancreatic cancer|carcinoma of pancreas|pancreas carcinoma|pancreas cancer|pancreatic carcinoma, familial|cancer of pancreas|pancreatic cancer (not islets)|cancer of the pancreas|pancreatic carcinoma|pancreas cancer|cancer of pancreas|cancer of the pancreas|exocrine cancer|carcinoma of the pancreas|carcinoma of exocrine pancreas	http://purl.obolibrary.org/obo/MONDO_0005192	A carcinoma that arises from epithelial cells of the exocrine pancreas	NCIT:C3850|SNOMEDCT:372142002|DOID:4905|UMLS:C0235974
MONDO:0005191	metastatic melanoma	biolink:Disease	mondo	EFO:0002617|SCTID:443493003|UMLS:C0278883|NCIT:C8925		metastatic melanoma|metastatic malignant melanoma	http://purl.obolibrary.org/obo/MONDO_0005191	A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain.	UMLS:C0278883|SNOMEDCT:443493003|NCIT:C8925
MONDO:0005194	Rotavirus infection	biolink:Disease	mondo	MESH:D012400|SCTID:18624000|ICD9:078.89|EFO:0002622|UMLS:C0035869		Rotavirus infectious disease|Rotavirus caused disease or disorder|Rotavirus disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005194	Infection with any of the rotaviruses. Specific infections include human infantile diarrhea, neonatal calf diarrhea, and epidemic diarrhea of infant mice.	UMLS:C0035869|MESH:D012400|SNOMEDCT:18624000
MONDO:0005193	prostate intraepithelial neoplasia	biolink:Disease	mondo	UMLS:C0282612|MP:0009219|MESH:D019048|NCIT:C4064|EFO:0002621|SCTID:254901000		prostate intraepithelial neoplasia (pin)|pin|pin - prostatic intraepithelial neoplasia|prostatic intraepithelial neoplasia|prostate intraepithelial neopl.	http://purl.obolibrary.org/obo/MONDO_0005193	A neoplastic proliferation of the epithelial cells that line the acini and the ducts of the prostate gland. The neoplastic epithelial cells are confined within the acini and the ducts and they do not invade the surrounding prostatic stroma. Morphologically, it is classified as low or high grade.	NCIT:C4064|SNOMEDCT:254901000|UMLS:C0282612|MESH:D019048
GO:0044419	biological process involved in interspecies interaction between organisms	biolink:OntologyClass	mondo			interspecies interaction with other organisms|interaction with another species|interspecies interaction|interspecies interaction between organisms	http://purl.obolibrary.org/obo/GO_0044419	Any process evolved to enable an interaction with an organism of a different species.	
MONDO:0029141	usher syndrome, type 4	biolink:Disease	mondo	OMIM:618144		USH4|USHER SYNDROME, TYPE IV; USH4	http://purl.obolibrary.org/obo/MONDO_0029141		http://identifiers.org/omim/618144
MONDO:0029140	glycosylphosphatidylinositol biosynthesis defect 18	biolink:Disease	mondo	OMIM:618143		GPIBD18|glycosylphosphatidylinositol biosynthesis defect 18; GPIBD18	http://purl.obolibrary.org/obo/MONDO_0029140		http://identifiers.org/omim/618143
MONDO:0005190	macroglobulinemia	biolink:Disease	mondo	EFO:0002616|ICD10:C88.0|SCTID:190817009|Wikipedia:Macroglobulinemia|ICD9:273.3|COHD:435502|DOID:9080		primary macroglobulinemia	http://purl.obolibrary.org/obo/MONDO_0005190	Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood. It is a Plasma cell dyscrasia, resembling leukemia, with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete a monoclonal immunoglobulin M component. There is diffuse infiltration by the malignant cells of the bone marrow and also, in many cases, of the spleen, liver, or lymph nodes. The circulating macroglobulin can produce symptoms of hyperviscosity syndrome: weakness, fatigue, bleeding disorders, and visual disturbances. Peak incidence of macroglobulinemia is in the sixth and seventh decades of life.	SNOMEDCT:190817009|DOID:9080
HGNC:10820	SH2D1A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10820		
MONDO:0017167	malignant epithelial tumor of salivary glands	biolink:Disease	mondo	Orphanet:276145|ICD10:C08.8|UMLS:CN202591|ICD10:C08.1|ICD10:C08.0|ICD10:C07	ordo_disease	malignant epithelial tumor of the salivary glands	http://purl.obolibrary.org/obo/MONDO_0017167		ORPHA:276145|UMLS:CN202591
MONDO:0032786	Noonan syndrome 11	biolink:Disease	mondo	OMIM:618499		NOONAN SYNDROME 11; NS11	http://purl.obolibrary.org/obo/MONDO_0032786		http://identifiers.org/omim/618499
MONDO:0032787	holoprosencephaly 12 with or without pancreatic agenesis	biolink:Disease	mondo	OMIM:618500		HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS; HPE12	http://purl.obolibrary.org/obo/MONDO_0032787		http://identifiers.org/omim/618500
MONDO:0017168	benign epithelial tumor of salivary glands	biolink:Disease	mondo	ICD10:D11.7|ICD10:D11.0|UMLS:CN202592|Orphanet:276148	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017168		ORPHA:276148|UMLS:CN202592
MONDO:0017169	multiple endocrine neoplasia	biolink:Disease	mondo	NCIT:C6432|OMIMPS:131100|ICD9:258.0|UMLS:C0027662|MedDRA:10061299|DC:0000291|Orphanet:276161|ICDO:8360/1|SCTID:46724008|ICD10:D44.8	ordo_group_of_disorders	multiple endocrine adenomatosis|men|men syndrome|multiple endocrine neoplasia|multiple endocrine neoplasia syndrome(s)|men syndromes|multiple endocrine neoplasia syndrome	http://purl.obolibrary.org/obo/MONDO_0017169	Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs.	MEDDRA:10061299|NCIT:C6432|ORPHA:276161|SNOMEDCT:46724008|UMLS:C0027662
MONDO:0032784	neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	biolink:Disease	mondo	OMIM:618497		NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS; NEDNEH	http://purl.obolibrary.org/obo/MONDO_0032784		http://identifiers.org/omim/618497
MONDO:0032785	polydactyly, postaxial, type a10	biolink:Disease	mondo	OMIM:618498		POLYDACTYLY, POSTAXIAL, TYPE A10; PAPA10	http://purl.obolibrary.org/obo/MONDO_0032785		http://identifiers.org/omim/618498
MONDO:0017163	hemolytic disease due to fetomaternal alloimmunization	biolink:Disease	mondo	Orphanet:275938|ICD10:P55.9|ICD10:P55.8|ICD10:P55.1|ICD10:P55.0|UMLS:CN202585	ordo_group_of_disorders	hemolytic disease of the fetus and newborn	http://purl.obolibrary.org/obo/MONDO_0017163		ORPHA:275938|UMLS:CN202585
MONDO:0032782	immunodeficiency 63 with lymphoproliferation and autoimmunity	biolink:Disease	mondo	OMIM:618495		Interleukin 2 Receptor, Beta, Deficiency of|Il2Rb Deficiency|Cd122 Deficiency|IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD63	http://purl.obolibrary.org/obo/MONDO_0032782		http://identifiers.org/omim/618495
MONDO:0032783	aortic valve disease 3	biolink:Disease	mondo	OMIM:618496		AORTIC VALVE DISEASE 3; AOVD3	http://purl.obolibrary.org/obo/MONDO_0032783		http://identifiers.org/omim/618496
MONDO:0017164	hemolytic disease of the newborn with Kell alloimmunization	biolink:Disease	mondo	Orphanet:275944|ICD10:P55.8|UMLS:CN202586	ordo_disease	anti-K HDN|maternal anti-Kell alloimmunization	http://purl.obolibrary.org/obo/MONDO_0017164		ORPHA:275944|UMLS:CN202586
MONDO:0017165	bile acid CoA ligase deficiency and defective amidation	biolink:Disease	mondo	Orphanet:276066|UMLS:C4274079|SCTID:717047007	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017165	Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterized by fat malabsorption, neonatal cholestasis and growth failure.	ORPHA:276066|UMLS:C4274079|SNOMEDCT:717047007
MONDO:0032780	hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	biolink:Disease	mondo	OMIM:618493		HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES; HIDEA	http://purl.obolibrary.org/obo/MONDO_0032780		http://identifiers.org/omim/618493
MONDO:0032781	congenital hypotonia, epilepsy, developmental delay, and digital anomalies	biolink:Disease	mondo	OMIM:618494		CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES; CHEDDA	http://purl.obolibrary.org/obo/MONDO_0032781		http://identifiers.org/omim/618494
MONDO:0017166	rare tumor of salivary glands	biolink:Disease	mondo	Orphanet:276142	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017166		ORPHA:276142
MONDO:0005208	amelanotic skin melanoma	biolink:Disease	mondo	UMLS:C0349515|EFO:0002894|Wikipedia:Amelanotic_melanoma|DOID:10054|NCIT:C4633		amelanotic malignant melanoma of skin|amelanotic melanoma of skin|amelanotic malignant melanoma of the skin|amelanotic melanoma of the skin|amelanotic melanoma of zone of skin|skin amelanotic melanoma|amelanotic skin melanoma|amelanotic cutaneous (skin) melanoma|amelanotic malignant skin melanoma|zone of skin amelanotic melanoma|skin amelanotic malignant melanoma|amelanotic malignant melanoma (of skin)	http://purl.obolibrary.org/obo/MONDO_0005208	A amelanotic melanoma that involves the zone of skin.	UMLS:C0349515|DOID:10054|NCIT:C4633
MONDO:0032827	epilepsy, idiopathic generalized, susceptibility to, 16	biolink:Disease	mondo	OMIM:618596		EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16; EIG16	http://purl.obolibrary.org/obo/MONDO_0032827		http://identifiers.org/omim/618596
MF:0000013	thinking	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/MF_0000013	a mental process that involves the manipulation of mental language and/or mental images	
MONDO:0005207	choriocarcinoma (disease)	biolink:Disease	mondo	SCTID:188188009|MESH:D002822|HP:0100768|ICDO:9100/3|DOID:3594|UMLS:C0008497|EFO:0002893|ONCOTREE:BCCA|GARD:0006059|NCIT:C2948|ICD10:C58		choriocarcinoma|chorioepithelioma|choriocarcinoma, malignant|chorionic carcinoma|chorioblastoma|chorion carcinoma	http://purl.obolibrary.org/obo/MONDO_0005207	An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected.	NCIT:C2948|UMLS:C0008497|DOID:3594|SNOMEDCT:188188009|MESH:D002822
MONDO:0032828	spastic tetraplegia and axial hypotonia, progressive	biolink:Disease	mondo	OMIM:618598		Sod1 Deficiency, Autosomal Recessive|SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP	http://purl.obolibrary.org/obo/MONDO_0032828		http://identifiers.org/omim/618598
MONDO:0007869	Kyrle disease	biolink:Disease	mondo	OMIM:149500|SCTID:34042008|GARD:0009738|UMLS:C0263382|MESH:C538130	gard_rare	Kyrle's disease|hyperkeratosis follicularis et parafollicularis in cutem penetrans|Kyrle disease	http://purl.obolibrary.org/obo/MONDO_0007869	Kyrle disease is rare condition that affects the skin. People with this condition generally develop large papules with central keratin (a protein found in the skin, hair and nails) plugs throughout their body. These lesions are typically not painful but may cause severe itching. Although it can affect both men and women throughout life, the average age of onset is 30 years. The cause of the disease is currently unknown; however, it is often associated with certain conditions such as diabetes mellitus, kidney disease, liver abnormalities, and congestive heart failure. In some families, the condition appears to be inherited but an underlying genetic cause has not been identified. Treatment aims to address the associated signs and symptoms and any additional disease that may be present. Lesions often heal spontaneously but new ones continue to develop.	http://identifiers.org/omim/149500|SNOMEDCT:34042008|UMLS:C0263382|MESH:C538130
HGNC:10908	SLC11A2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10908		
MONDO:0005209	obsolete cutaneous T-cell lymphoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005209		
HGNC:10909	SLC40A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10909		
MONDO:0032826	nephrotic syndrome, type 21	biolink:Disease	mondo	OMIM:618594		NEPHROTIC SYNDROME, TYPE 21; NPHS21	http://purl.obolibrary.org/obo/MONDO_0032826		http://identifiers.org/omim/618594
MONDO:0007867	nonsyndromic congenital nail disorder 2	biolink:Disease	mondo	SCTID:66270006|OMIM:149300|DOID:0080080|GARD:0009760|ICD9:703.8|MESH:C537260		NDNC2|nonsyndromic congenital nail disorder type 2|hereditary koilonychia|nail disorder, nonsyndromic congenital, 2|congenital koilonychia|spoon nails|Koilonychia with leukonychia|Koilonychia, hereditary|familial koilonychia|nail disorder, nonsyndromic congenital, 2; NDNC2	http://purl.obolibrary.org/obo/MONDO_0007867		DOID:0080080|MESH:C537260|SNOMEDCT:66270006|http://identifiers.org/omim/149300
MONDO:0032823	intellectual developmental disorder 60 with seizures	biolink:Disease	mondo	OMIM:618587		INTELLECTUAL DEVELOPMENTAL DISORDER 60 WITH SEIZURES; MRD60|Mental Retardation, Autosomal Dominant 60, With Seizures	http://purl.obolibrary.org/obo/MONDO_0032823		http://identifiers.org/omim/618587
NCBITaxon:29031	Phlebotomus papatasi	organism taxon	mondo	GC_ID:1		Phlebotomus papatasii|Phlebotomus (Phlebotomus) papatasi	http://purl.obolibrary.org/obo/NCBITaxon_29031		
MONDO:0005204	primary antiphospholipid syndrome	biolink:Disease	mondo	SCTID:239892009|UMLS:C0409980|EFO:0002689|ICD9:795.79			http://purl.obolibrary.org/obo/MONDO_0005204	An antiphospholipid syndrome that occurs as an isolated disorder.	UMLS:C0409980|SNOMEDCT:239892009
MONDO:0005203	ischemia reperfusion injury	biolink:Disease	mondo	MESH:D015427|PMID:10685060|EFO:0002687			http://purl.obolibrary.org/obo/MONDO_0005203	Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the tissue (reperfusion), including swelling; hemorrhage; necrosis; and damage from free radicals. The most common instance is myocardial reperfusion injury.	MESH:D015427
MONDO:0007868	hyperekplexia 1	biolink:Disease	mondo	ICD10:G25.8|DOID:0060696|OMIM:149400		hyperekplexia 1; HKPX1|HKPX1|Stiff-baby syndrome|Stiff-Man syndrome, congenital|Kok disease|exaggerated startle reaction|hyperekplexia, hereditary 1|hyperekplexia type 1|Stiff-Person syndrome, congenital|Sthe|hyperekplexia, hereditary type 1|startle reaction, exaggerated|hyperekplexia, hereditary 1; HKPX1|startle disease, familial	http://purl.obolibrary.org/obo/MONDO_0007868	A hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32.	http://identifiers.org/omim/149400|DOID:0060696
MONDO:0032824	glycosylphosphatidylinositol biosynthesis defect 21	biolink:Disease	mondo	OMIM:618590		Neurodevelopmental Disorder With Brain Anomalies, Seizures, and Scoliosis|GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 21; GPIBD21	http://purl.obolibrary.org/obo/MONDO_0032824		http://identifiers.org/omim/618590
MONDO:0005206	renal carcinoma	biolink:Disease	mondo	NCIT:C9384|UMLS:C1378703|EFO:0002890|DOID:4451		renal cancer|kidney (renal) cancer|carcinoma of kidney|renal carcinoma|kidney cancer|kidney (including renal cell) cancer|kidney cancer, NOS|kidney carcinoma	http://purl.obolibrary.org/obo/MONDO_0005206	A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis. The majority are renal cell carcinomas. Kidney carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms.	NCIT:C9384|DOID:4451|UMLS:C1378703
MONDO:0007865	knuckle pads	biolink:Disease	mondo	OMIM:149100|UMLS:C0264000|ICD9:728.79|SCTID:16687001|ICD10:M72.1		knuckle pads	http://purl.obolibrary.org/obo/MONDO_0007865		SNOMEDCT:16687001|http://identifiers.org/omim/149100|UMLS:C0264000
MONDO:0032821	myopathy, congenital, progressive, with scoliosis	biolink:Disease	mondo	OMIM:618578		MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO	http://purl.obolibrary.org/obo/MONDO_0032821		http://identifiers.org/omim/618578
UBERON:0016481	bronchial lymph node	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0016481	A lymph node that is part of a bronchus.	
MONDO:0007866	Bart-Pumphrey syndrome	biolink:Disease	mondo	SCTID:1271009|Orphanet:2698|OMIM:149200|ICD9:759.89|MESH:C537210|GARD:0003125|ICD10:Q82.8|DOID:0050658	ordo_disease	Bart-Pumphrey syndrome|knuckle pads, leukonychia, and sensorineural deafness|knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome|knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome|knuckle pads, leuconychia and sensorineural deafness	http://purl.obolibrary.org/obo/MONDO_0007866		DOID:0050658|UMLS:C0266004|SNOMEDCT:1271009|MESH:C537210|ORPHA:2698|http://identifiers.org/omim/149200
MONDO:0005205	obsolete systemic lupus erythematosus	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005205		
MONDO:0032822	developmental and epileptic encephalopathy, 80	biolink:Disease	mondo	OMIM:618580		EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80; EIEE80|Glycosylphosphatidylinositol Biosynthesis Defect 20|epileptic encephalopathy, early infantile, 80|DEE80	http://purl.obolibrary.org/obo/MONDO_0032822		http://identifiers.org/omim/618580
CHEBI:33635	polycyclic compound	biolink:ChemicalSubstance	mondo			polycyclic compounds	http://purl.obolibrary.org/obo/CHEBI_33635		
MONDO:0007863	Kleine-Levin syndrome	biolink:Disease	mondo	MESH:D017593|NCIT:C84800|DOID:0060165|MedDRA:10053712|UMLS:C0206085|OMIM:148840|Orphanet:33543|ICD10:G47.8|EFO:1001354|GARD:0003117|SCTID:111488004	ordo_disease|gard_rare	Kleine-Levin syndrome|Kleine Levin syndrome|familial Kleine-Levin syndrome|familial hibernation syndrome|Kleine-LEVIN hibernation syndrome	http://purl.obolibrary.org/obo/MONDO_0007863	Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterised by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioural disturbances.	DOID:0060165|http://identifiers.org/omim/148840|MESH:D017593|SNOMEDCT:111488004|NCIT:C84800|ORPHA:33543|MEDDRA:10053712|UMLS:C0206085
MONDO:0020841	neurodevelopmental disorder with cerebellar atrophy and with or without seizures	biolink:Disease	mondo	OMIM:618056|UMLS:CN252657		NEDCAS|neurodevelopmental disorder with cerebellar atrophy and with or without seizures; NEDCAS	http://purl.obolibrary.org/obo/MONDO_0020841		http://identifiers.org/omim/618056|UMLS:CN252657
MONDO:0005200	viral dilated cardiomyopathy	biolink:Disease	mondo	EFO:0002629|UMLS:C0264797|SCTID:30496006|Wikipedia:Viral_cardiomyopathy		Viruses caused dilated cardiomyopathy|Viruses dilated cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0005200	An dilated cardiomyopathy caused by infection with Viruses.	UMLS:C0264797|SNOMEDCT:30496006
MONDO:0007864	angioosteohypertrophic syndrome	biolink:Disease	mondo	Orphanet:2346|MESH:D007715|NCIT:C84801|EFO:0007334|GARD:0003122|DOID:2926|UMLS:C0022739|MedDRA:10051452|ICD10:Q87.2|SCTID:721105004|UMLS:CN201567|OMIM:149000	ordo_clinical_subtype|gard_rare|ordo_disease	KTS|Ktw syndrome|Klippel-Trénaunay-Weber syndrome|angioosteohypertrophy syndrome|Klippel Trenaunay syndrome|Klippel-Trenaunay syndrome|Klippel-Trenaunay-Weber syndrome|Weber-Klippel-Trenaunay|angioosteohypertrophy syndrome|haemangiectatic hypertrophy|Klippel-Trénaunay syndrome|angio-osteohypertrophy syndrome	http://purl.obolibrary.org/obo/MONDO_0007864	Angio-osteohypertrophic (AOH) syndrome is a congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.	SNOMEDCT:721105004|MESH:D007715|UMLS:C0022739|DOID:2926|NCIT:C84801|ORPHA:2346|UMLS:CN201567|http://identifiers.org/omim/149000|MEDDRA:10051452
CHEBI:33636	bicyclic compound	biolink:ChemicalSubstance	mondo			bicyclic compounds	http://purl.obolibrary.org/obo/CHEBI_33636	A molecule that features two fused rings.	
MONDO:0020840	pulmonary alveolar proteinosis with hypogammaglobulinemia	biolink:Disease	mondo	OMIM:618042|UMLS:CN248786		pulmonary alveolar proteinosis with hypogammaglobulinemia; PAPHG|PAPHG	http://purl.obolibrary.org/obo/MONDO_0020840		http://identifiers.org/omim/618042|UMLS:CN248786
MONDO:0005202	atopic IgE-mediated allergic disorder	biolink:Disease	mondo	UMLS:C1706410|ICD9:995.3|SCTID:115665000|EFO:0002686		Atopic allergy|atopic state|atopy	http://purl.obolibrary.org/obo/MONDO_0005202	A genetic predisposition to form IgE antibodies in response to exposure to allergens and therefore, for the development of immediate (type I) hypersensitivity and atopic conditions, such as allergic rhinitis; bronchial asthma, atopic dermatitis, and food allergy. Mutations of specific alleles on the long arm of chromosome 5 have been associated with higher levels of IL-4 and IgE and are known as IL-4 promoter polymorphisms.	UMLS:C1706410|SNOMEDCT:115665000|NCIT:C41366
MONDO:0007861	isolated cloverleaf skull syndrome	biolink:Disease	mondo	MESH:C536884|OMIM:148800|SCTID:254022009|ICD10:Q75.0|Orphanet:2343|UMLS:CN201565|GARD:0003115	gard_rare|ordo_morphological_anomaly	Kleeblattschaedel deformity syndrome|Kleeblattschaedel-deformity syndrome|cloverleaf skull|KLEEBLATTSCHAEDEL|Kleeblattschaedel syndrome|cloverleaf skull syndrome|isolated cloverleaf skull syndrome|Kleeblattschadel	http://purl.obolibrary.org/obo/MONDO_0007861	Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation.	MESH:C536884|http://identifiers.org/omim/148800|SNOMEDCT:254022009|ORPHA:2343|UMLS:CN201565
CHEBI:33637	ortho-fused compound	biolink:ChemicalSubstance	mondo			ortho-fused compounds|ortho-fused polycyclic compounds	http://purl.obolibrary.org/obo/CHEBI_33637	A polycyclic compound in which two rings have two, and only two, atoms in common. Such compounds have n common faces and 2n common atoms.	
MONDO:0005201	restrictive cardiomyopathy	biolink:Disease	mondo	EFO:0002630|ICD9:425.4|DOID:397|Orphanet:217632|MedDRA:10038748|NCIT:C62798|SCTID:415295002|MESH:D002313|ICD10:I42.5|UMLS:C0007196	ordo_group_of_disorders	primary restrictive cardiomyopathy|cardiomyopathy, constrictive|familial restrictive cardiomyopathy|restrictive cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0005201	A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium.	UMLS:C0007196|NCIT:C62798|SNOMEDCT:415295002|ORPHA:217632|MESH:D002313|MEDDRA:10038748|DOID:397
MONDO:0007862	Waardenburg syndrome type 3	biolink:Disease	mondo	OMIM:148820|GARD:0005523|DOID:0110949|ICD10:E70.3|Orphanet:896	ordo_clinical_subtype|gard_rare	Waardenburg syndrome, type 3|White forelock (poliosis) syndrome with multiple congenital malformations|WS3|Waardenburg syndrome with limb anomalies|Waardenburg syndrome type III|Klein-Waardenburg syndrome|Waardenburg syndrome with upper limb anomalies|Waardenburg syndrome, type 3; WS3	http://purl.obolibrary.org/obo/MONDO_0007862	Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.	ORPHA:896|http://identifiers.org/omim/148820|DOID:0110949
HGNC:10906	SLC10A2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10906		
MONDO:0007860	focal palmoplantar and gingival keratoderma	biolink:Disease	mondo	UMLS:C1835650|MESH:C536157|ICD10:Q82.8|GARD:0003098|OMIM:148730|Orphanet:2200|SCTID:764963007	gard_rare|ordo_disease	focal palmoplantar and gingival hyperkeratosis syndrome|keratosis, focal palmoplantar and gingival|focal palmoplantar and gingival hyperkeratosis|focal palmoplantar and oral mucosa hyperkeratosis|keratosis focal palmoplantar gingival	http://purl.obolibrary.org/obo/MONDO_0007860	Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement.	http://identifiers.org/omim/148730|UMLS:C1835650|SNOMEDCT:764963007|ORPHA:2200|MESH:C536157
HGNC:10907	SLC11A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10907		
MONDO:0032829	neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	biolink:Disease	mondo	OMIM:618603		NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB	http://purl.obolibrary.org/obo/MONDO_0032829		http://identifiers.org/omim/618603
MONDO:0020838	anterior nasal diphtheria	biolink:Disease	mondo	NCIT:C34542|ICD9:032.2|UMLS:C0012553|SCTID:15682004		anterior nasal diphtheria|Anterior Nasal Diphtheria|Anterior nasal diphtheria	http://purl.obolibrary.org/obo/MONDO_0020838	Infection of the anterior nasal structures by Corynebacterium diphtheriae.	NCIT:C34542|UMLS:C0012553|SNOMEDCT:15682004
MONDO:0020837	oocyte maturation defect 5	biolink:Disease	mondo	OMIM:617996		OOMD5|oocyte maturation defect 5; OOMD5	http://purl.obolibrary.org/obo/MONDO_0020837		http://identifiers.org/omim/617996
MONDO:0019859	congenital thyroid malformation without hypothyroidism	biolink:Disease	mondo	Orphanet:95718|ICD10:Q89.2	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019859		ORPHA:95718
MONDO:0044807	inherited dystonia	biolink:Disease	mondo	UMLS:CN227322|Orphanet:391799|NCIT:C35527	ordo_group_of_disorders	rare genetic dystonia|hereditary dystonic disorder|familial dystonia|rare genetic dystonic disorder	http://purl.obolibrary.org/obo/MONDO_0044807	An instance of dystonic disorder that is caused by an inherited modification of the individual's genome.	UMLS:CN227322|NCIT:C35527|ORPHA:391799
MONDO:0020836	autism, susceptiblity to	biolink:Disease	mondo	OMIMPS:209850	predisposition		http://purl.obolibrary.org/obo/MONDO_0020836		
MONDO:0020835	methemoglobinemia, alpha type	biolink:Disease	mondo	OMIM:617973		methemoglobinemia, alpha type	http://purl.obolibrary.org/obo/MONDO_0020835		http://identifiers.org/omim/617973
MONDO:0019856	primary congenital hypothyroidism without thyroid developmental anomaly	biolink:Disease	mondo	ICD10:E03.1|ICD10:E03.0|Orphanet:95714	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019856	Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism in which the thyroid gland is anatomically normal.	ORPHA:95714
MONDO:0044800	desmoplastic spitz nevus	biolink:Disease	mondo	UMLS:C1275419|NCIT:C82864|SCTID:400022009		Desmoplastic spitz Nevus	http://purl.obolibrary.org/obo/MONDO_0044800	A Spitz nevus associated with fibrous stroma formation.	UMLS:C1275419|NCIT:C82864|SNOMEDCT:400022009
MONDO:0019855	athyreosis	biolink:Disease	mondo	ICD10:E03.1|Orphanet:95713	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0019855	Athyreosis is a form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.	ORPHA:95713
HGNC:10910	SLC12A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10910		
MONDO:0019858	idiopathic congenital hypothyroidism	biolink:Disease	mondo	SCTID:717334008|Orphanet:95717|ICD10:E03.1|UMLS:C4273913	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019858	Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism whose cause and prevalence are unknown.	SNOMEDCT:717334008|ORPHA:95717|UMLS:C4273913
MONDO:0019857	congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies	biolink:Disease	mondo	SCTID:717333002|ICD10:P72.2|Orphanet:95715|UMLS:C4273914	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019857	Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism, a thyroid hormone deficiency that is not permanent.	SNOMEDCT:717333002|ORPHA:95715|UMLS:C4273914
MONDO:0020831	congenital vertebral-cardiac-renal anomalies syndrome	biolink:Disease	mondo	OMIMPS:617660|Orphanet:521438	ordo_malformation_syndrome	VCRL|vertebral, cardiac, renal, and limb defects syndrome	http://purl.obolibrary.org/obo/MONDO_0020831		ORPHA:521438
MONDO:0019852	inherited primary ovarian failure	biolink:Disease	mondo	OMIMPS:311360|Orphanet:95710|ICD10:E28.3	ordo_group_of_disorders	non-acquired premature ovarian failure|hereditary primary ovarian failure|inherited premature ovarian failure	http://purl.obolibrary.org/obo/MONDO_0019852	An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome.	ORPHA:95710
MONDO:0032830	snijders blok-fisher syndrome	biolink:Disease	mondo	OMIM:618604		SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS	http://purl.obolibrary.org/obo/MONDO_0032830		http://identifiers.org/omim/618604
MONDO:0032831	pontocerebellar hypoplasia, type 13	biolink:Disease	mondo	OMIM:618606		PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13	http://purl.obolibrary.org/obo/MONDO_0032831		http://identifiers.org/omim/618606
MONDO:0019851	acquired primary ovarian failure	biolink:Disease	mondo	ICD10:E28.8|Orphanet:95709|SCTID:717954003|UMLS:C4303540	ordo_group_of_disorders	acquired premature ovarian failure|acquired primary ovarian failure	http://purl.obolibrary.org/obo/MONDO_0019851	An instance of primary ovarian failure that is acquired during the lifetime of the individual.	ORPHA:95709|SNOMEDCT:717954003|UMLS:C4303540
MONDO:0019854	thyroid ectopia	biolink:Disease	mondo	ICD10:E03.1|Orphanet:95712	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0019854	Thyroid ectopia is a form of thyroid dysgenesis characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.	ORPHA:95712
MONDO:0019853	congenital hypothyroidism due to developmental anomaly	biolink:Disease	mondo	ICD10:E03.1|Orphanet:95711	ordo_group_of_disorders	primary congenital hypothyroidism due to developmental anomaly	http://purl.obolibrary.org/obo/MONDO_0019853	Thyroid dysgenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth.	ORPHA:95711
FOODON:00001118	cattle dairy food product	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00001118		
MONDO:0044808	early onset primary dystonia	biolink:Disease	mondo	NCIT:C116718		early onset torsion dystonia|Oppenheim's dystonia|early onset primary dystonia	http://purl.obolibrary.org/obo/MONDO_0044808	A genetic disorder that usually presents in early childhood and is characterized by muscle contractions in a foot, leg, or arm that gradually spreads to other body regions.	NCIT:C116718
MF:0000008	cognitive process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/MF_0000008	A mental process that creates, modifies or has as participant some cognitive representation.	
MONDO:0019850	obsolete precocious puberty	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019850		
MONDO:0005219	breast fibrocystic disease	biolink:Disease	mondo	EFO:0003014|ICD10:N60.1|DOID:10354|UMLS:C0016034|ICD10:N60|ICD9:610.1|COHD:78804|MESH:D005348|NCIT:C3039		fibrocystic disease|fibrocystic change of breast|mammary dysplasia|fibrocystic change of the breast|diffuse cystic mastopathy|benign breast disease|fibrocystic breast changes|cystic disease of breast|fibrocystic disease of breast|cystic disease of the breast|fibrocystic breast|breast fibrocystic change|fibrocystic disease of the breast|fibrocystic mastopathy|fibrocystic breast disease	http://purl.obolibrary.org/obo/MONDO_0005219	Fibrosis associated with cyst formation in the breast parenchyma.	MESH:D005348|UMLS:C0016034|NCIT:C3039|DOID:10354
MONDO:0032838	neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	biolink:Disease	mondo	OMIM:618622		NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA	http://purl.obolibrary.org/obo/MONDO_0032838		http://identifiers.org/omim/618622
MONDO:0032839	noonan syndrome 12	biolink:Disease	mondo	OMIM:618624		NOONAN SYNDROME 12; NS12	http://purl.obolibrary.org/obo/MONDO_0032839		http://identifiers.org/omim/618624
MONDO:0005218	muscular disease	biolink:Disease	mondo	MESH:D009135|EFO:0002970|DOID:0080000		muscle organ disease or disorder|disorder of muscle organ|disease of muscle organ|disorder of muscle organ|disease or disorder of muscle organ|muscle organ disease	http://purl.obolibrary.org/obo/MONDO_0005218	Acquired, familial, and congenital disorders of skeletal muscle and smooth muscle.	DOID:0080000|MESH:D009135
MONDO:0032836	weiss-kruszka syndrome	biolink:Disease	mondo	OMIM:618619		WEISS-KRUSZKA SYNDROME; WSKA	http://purl.obolibrary.org/obo/MONDO_0032836		http://identifiers.org/omim/618619
MONDO:0032837	abdominal obesity-metabolic syndrome 4	biolink:Disease	mondo	OMIM:618620		ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4	http://purl.obolibrary.org/obo/MONDO_0032837		http://identifiers.org/omim/618620
MF:0000020	mental process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/MF_0000020	A mental process is a bodily process that is of a type such that it can of itself be conscious. Examples include thinking, feeling pain, remembering and emotion as occurrent experiences. 	
MONDO:0007878	congenital laryngomalacia	biolink:Disease	mondo	MedDRA:10060786|ICD10:Q31.5|SCTID:253737007|GARD:0006865|OMIM:150280|NCIT:C98971|Orphanet:2373|COHD:4113306|MESH:D055092|ICD9:748.3	ordo_malformation_syndrome	congenital laryngeal stridor|laryngomalacia congenital|laryngomalacia	http://purl.obolibrary.org/obo/MONDO_0007878	Increased collapsibility of the larynx.	SNOMEDCT:253737007|http://identifiers.org/omim/150280|NCIT:C98971|MEDDRA:10060786|UMLS:C0345160|ORPHA:2373|MESH:D055092
MONDO:0005215	vulvar carcinoma	biolink:Disease	mondo	SCTID:447882007|Orphanet:494418|NCIT:C4866|UMLS:C0677055|EFO:0002921|DOID:1294		vulvar cancer, NOS|carcinoma of vulva|vulva cancer|vulva carcinoma|vulvar cancer|vulvar carcinoma|carcinoma of the vulva|cancer of the vulva|cancer of vulva|carcinoma of mammalian vulva|mammalian vulva carcinoma	http://purl.obolibrary.org/obo/MONDO_0005215	A carcinoma that arises from epithelial cells of the mammalian vulva	DOID:1294|UMLS:C0677055|NCIT:C4866|SNOMEDCT:447882007|ORPHA:494418
MONDO:0032834	retinitis pigmentosa 86	biolink:Disease	mondo	OMIM:618613		RETINITIS PIGMENTOSA 86; RP86	http://purl.obolibrary.org/obo/MONDO_0032834		http://identifiers.org/omim/618613
MONDO:0007879	larynx atresia	biolink:Disease	mondo	OMIM:150300|GARD:0003194|MESH:C563637|ICD10:Q31.8|NCIT:C98972|SCTID:64981002|Orphanet:1202|ICD9:748.3|GARD:0003192|UMLS:C0265756	ordo_malformation_syndrome	congenital atresia of larynx|congenital atresia of the larynx|congenital partial atresia of the larynx|laryngeal atresia|larynx, congenital partial atresia OF	http://purl.obolibrary.org/obo/MONDO_0007879	A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation.	UMLS:C0265756|http://identifiers.org/omim/150300|MESH:C563637|NCIT:C98972|SNOMEDCT:64981002|ORPHA:1202
MONDO:0005214	vulva sarcoma	biolink:Disease	mondo	NCIT:C40317|SCTID:254897006|UMLS:C0238525|EFO:0002920|DOID:2096		sarcoma of vulva|sarcoma of mammalian vulva|mammalian vulva sarcoma|vulvar sarcoma	http://purl.obolibrary.org/obo/MONDO_0005214	A malignant mesenchymal neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma.	DOID:2096|SNOMEDCT:254897006|UMLS:C0238525|NCIT:C40317
MONDO:0032835	spondyloepiphyseal dysplasia, nishimura type	biolink:Disease	mondo	OMIM:618618		SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN	http://purl.obolibrary.org/obo/MONDO_0032835		http://identifiers.org/omim/618618
MONDO:0005217	familial cardiomyopathy	biolink:Disease	mondo	ICD9:425.4|UMLS:C0264789|SCTID:35728003|EFO:0002945		hereditary cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0005217	An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome.	UMLS:C0264789|SNOMEDCT:35728003
MONDO:0007876	laryngeal abductor paralysis	biolink:Disease	mondo	OMIM:150260|ICD10:J38.0|Orphanet:2808|GARD:0005509|UMLS:CN202762|ICD9:748.3|SCTID:232442001	ordo_malformation_syndrome	Labd|vocal cord dysfunction, familial|laryngeal abductor paralysis|vocal cord dysfunction familial|familial vocal cord dysfunction|Gerhardt syndrome	http://purl.obolibrary.org/obo/MONDO_0007876		SNOMEDCT:232442001|http://identifiers.org/omim/150260|UMLS:CN202762|ORPHA:2808|UMLS:C0396059
MONDO:0032832	intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies	biolink:Disease	mondo	OMIM:618608		Chromosome 12Q15 Deletion Syndrome|INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS	http://purl.obolibrary.org/obo/MONDO_0032832		http://identifiers.org/omim/618608
MONDO:0007877	LAP	biolink:Disease	mondo	MESH:C562861|OMIM:150270		laryngeal adductor paralysis|LAP|vocal cord dysfunction, adductor type|laryngeal adductor paralysis; LAP	http://purl.obolibrary.org/obo/MONDO_0007877		http://identifiers.org/omim/150270|MESH:C562861
MONDO:0032833	lower urinary tract obstruction, congenital	biolink:Disease	mondo	OMIM:618612		LOWER URINARY TRACT OBSTRUCTION, CONGENITAL; LUTO	http://purl.obolibrary.org/obo/MONDO_0032833		http://identifiers.org/omim/618612
MONDO:0005216	hypopharyngeal carcinoma	biolink:Disease	mondo	NCIT:C9465|EFO:0002938		hypopharynx carcinoma|hypopharyngeal cancer|hypopharyngeal carcinoma|carcinoma of the hypopharynx|hypopharyngeal throat cancer|cancer of the hypopharynx|cancer of hypopharynx|carcinoma of hypopharynx	http://purl.obolibrary.org/obo/MONDO_0005216	Carcinoma, predominantly squamous cell, arising from the epithelial cells of the hypopharynx.	NCIT:C9465
MONDO:0005211	ovarian serous adenocarcinoma	biolink:Disease	mondo	NCIT:C7550|EFO:0002917|DOID:0050933|DOID:5744|ONCOTREE:SOC		serous carcinoma of the ovary|ovarian serous adenocarcinoma|ovarian serous carcinoma|serous ovarian cancer|serous carcinoma of ovary|serous adenocarcinoma of the ovary|serous adenocarcinoma of ovary|malignant ovarian serous tumor|ovary serous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005211	An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia.	NCIT:C7550|DOID:0050933|DOID:5744
MONDO:0007874	trichorhinophalangeal syndrome type II	biolink:Disease	mondo	ICD9:759.89|GARD:0007801|Orphanet:502|NCIT:C75118|MESH:D015826|DOID:4998|MedDRA:10050638|SCTID:41069008|ICD10:Q87.8|OMIM:150230|UMLS:C0023003	ordo_malformation_syndrome	TRPS 2|chromosome 8Q24.1 deletion syndrome|trichorhinophalangeal syndrome, type II|Giedion-Langer syndrome|Langer Giedion syndrome|trichorhinophalangeal syndrome type 2|trichorhinophalangeal syndrome, type 2|Langer-Giedion syndrome|trichorhinophalangeal dysplasia type II|monosomy 8q24.1|trichorhinophalangeal syndrome, type II; TRPS2|TRPS2|deletion 8q24.1	http://purl.obolibrary.org/obo/MONDO_0007874	Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.	MEDDRA:10050638|UMLS:C2931237|http://identifiers.org/omim/150230|MESH:D015826|SNOMEDCT:41069008|NCIT:C75118|ORPHA:502|UMLS:C0023003|MESH:C536555|DOID:4998
MONDO:0020830	diaphragmitis	biolink:Disease	mondo	UMLS:C0011985|SCTID:73160007|EFO:0000937		diaphragmatitis|diaphragmitis	http://purl.obolibrary.org/obo/MONDO_0020830		UMLS:C0011985|SNOMEDCT:73160007
MONDO:0005210	uterine corpus sarcoma	biolink:Disease	mondo	ONCOTREE:USARC|Orphanet:213620|NCIT:C6339|UMLS:C0338113|EFO:0002914|SCTID:254877001|DOID:5165|GARD:0009383|ICD10:C54.2|MedDRA:10039497	ordo_group_of_disorders|gard_rare	body of uterus sarcoma|sarcoma of uterus|sarcoma of the uterus|uterine sarcoma/mesenchymal|sarcoma of body of uterus|uterine body sarcoma|sarcoma of uterine corpus|sarcoma of the body of uterus|sarcoma of the uterine corpus|uterus sarcoma|sarcoma of uterine body|sarcoma of corpus uteri|sarcoma of the uterine body|corpus uteri sarcoma|sarcoma of the corpus uteri|uterine sarcoma	http://purl.obolibrary.org/obo/MONDO_0005210	A malignant mesenchymal neoplasm arising from the wall of the uterine corpus (uterine body). The most representative examples are leiomyosarcoma and endometrial stromal sarcoma.	NCIT:C6339|MEDDRA:10039497|SNOMEDCT:254877001|DOID:5165|ORPHA:213620|UMLS:C0338113
MONDO:0007875	Larsen syndrome	biolink:Disease	mondo	ICD10:Q74.8|ICD9:759.89|GARD:0006860|DOID:14764|Orphanet:503|UMLS:C0175778|MESH:C580241|SCTID:63387002|OMIM:150250	ordo_malformation_syndrome|gard_rare	Larsen syndrome; LRS|LRS|dominant Larsen syndrome|Larsen syndrome|autosomal dominant Larsen syndrome	http://purl.obolibrary.org/obo/MONDO_0007875	Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate.	MESH:C580241|http://identifiers.org/omim/150250|UMLS:C2931648|SNOMEDCT:63387002|UMLS:C0175778|ORPHA:503|DOID:14764
HGNC:10914	SLC12A6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10914		
MONDO:0007872	LADD syndrome	biolink:Disease	mondo	DOID:0050331|SCTID:23817003|ICD9:759.89|MESH:C538132|Orphanet:2363|OMIM:149730|ICD10:Q87.8|GARD:0006848|UMLS:C0265269	ordo_malformation_syndrome	lacrimoauriculodentodigital syndrome|Lacrimoauriculoradiodental syndrome|LACRIMOAURICULODENTODIGITAL syndrome; LADD|lard syndrome|Lacrimoauriculodento-digital syndrome|Lacrimo-auriculo-dento-digital syndrome|lacrimoauriculodentodigital syndrome|levy Hollister syndrome|levy-Hollister syndrome|LADD syndrome|LADD	http://purl.obolibrary.org/obo/MONDO_0007872	Lacrimoauriculodentodigital (LADD) syndrome is a multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations.	SNOMEDCT:23817003|MESH:C538132|ORPHA:2363|UMLS:C0265269|DOID:0050331|http://identifiers.org/omim/149730
MONDO:0005213	uterine carcinoma	biolink:Disease	mondo	EFO:0002919|SCTID:446022000|UMLS:C2960452		carcinoma of uterus|uterus carcinoma	http://purl.obolibrary.org/obo/MONDO_0005213	A carcinoma involving a uterus.	UMLS:C2960452|SNOMEDCT:446022000
MONDO:0007873	lactic acidosis, chronic adult form	biolink:Disease	mondo	UMLS:C1835591|MESH:C563640|OMIM:150170		lactic acidosis, chronic adult form	http://purl.obolibrary.org/obo/MONDO_0007873		http://identifiers.org/omim/150170|MESH:C563640|UMLS:C1835591
MONDO:0005212	rhabdomyosarcoma (disease)	biolink:Disease	mondo	EFO:0002918|MESH:D012208|ICD10:C49.9|MedDRA:10039022|NCIT:C3359|UMLS:C0035412|Orphanet:780|ICD9:171.9|HP:0002859|DOID:3247|ONCOTREE:RMS|SCTID:302847003|ICDO:8900/3	ordo_disease	rhabdomyosarcoma, malignant|rhabdomyosarcoma|rhabdomyosarcoma (disease)|rhabdomyosarcoma, NOS	http://purl.obolibrary.org/obo/MONDO_0005212	A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites.	UMLS:C0035412|MEDDRA:10039022|NCIT:C3359|SNOMEDCT:302847003|MESH:D012208|DOID:3247|ORPHA:780
HGNC:10912	SLC12A3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10912		
MONDO:0007870	labia minora, incomplete adhesion of	biolink:Disease	mondo	OMIM:149600		labia minora, incomplete adhesion of	http://purl.obolibrary.org/obo/MONDO_0007870		http://identifiers.org/omim/149600
MONDO:0007871	familial congenital nasolacrimal duct obstruction	biolink:Disease	mondo	OMIM:149700|MESH:C566703|Orphanet:451612|ICD10:Q10.5	ordo_morphological_anomaly	lacrimal puncta, absence of|nasolacrimal duct obstruction|lacrimal duct defect; LCDD|LCDD|lacrimal duct defect	http://purl.obolibrary.org/obo/MONDO_0007871		http://identifiers.org/omim/149700|MESH:C566703|ORPHA:451612
UBERON:0016479	capsule of liver	biolink:AnatomicalEntity	mondo			hepatic capsule|glisson's capsule|capsula fibrosa perivascularis|fibrous capsule of liver|tunica fibrosa hepatis|tunica fibrosa (hepar)|liver capsule|fibrous capsule of Glisson	http://purl.obolibrary.org/obo/UBERON_0016479	A collagenous capsule covering the external surface of the liver.	
UBERON:0016478	liver stroma	biolink:AnatomicalEntity	mondo			stroma of liver|hepatic stroma	http://purl.obolibrary.org/obo/UBERON_0016478	A stroma that is part of a liver.	
MONDO:0044816	familial idiopathic torsion dystonia	biolink:Disease	mondo	SCTID:230318005|NCIT:C35437		hereditary idiopathic torsion dystonia|genetic torsion dystonia|familial Idiopathic dystonia|idiopathic familial dystonia	http://purl.obolibrary.org/obo/MONDO_0044816	An instance of idiopathic torsion dystonia that is caused by an inherited modification of the individual's genome.	NCIT:C35437|SNOMEDCT:230318005
MONDO:0019849	isolated micropenis	biolink:Disease	mondo	ICD10:Q55.6|Orphanet:95707	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0019849		ORPHA:95707
UBERON:0004495	skeletal muscle tissue of diaphragm	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004495	A portion of skeletal muscle tissue that is part of a diaphragm [Automatically generated definition].	
HP:0004566	Pear-shaped vertebrae	biolink:PhenotypicFeature	mondo	UMLS:C1866731		Pear-shaped vertebral bodies	http://purl.obolibrary.org/obo/HP_0004566	Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours.	
MONDO:0019848	posterior hypospadias	biolink:Disease	mondo	ICD10:Q54.3|ICD10:Q54.2|Orphanet:95706	ordo_morphological_anomaly	perineal, scrotal or penoscrotal hypospadias	http://purl.obolibrary.org/obo/MONDO_0019848	Posterior hypospadias is a rare, non-syndromic, urogenital tract malformation characterized by an ectopic urethral meatus opening located in the posterior penis, the penoscrotal junction, the scrotum or the perineum, which often appears stenotic. The scrotum might appear bifid in severe cases and micropenis is not commonly associated. Urinary tract malformations, such as ureteropelvic junction obstruction, vesicoureteric reflux, pelvic or horseshoe kidney, crossed renal ectopia, renal agenesis, may be observed.	ORPHA:95706
UBERON:0004493	cardiac muscle tissue of myocardium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004493	A portion of cardiac muscle tissue that is part of a myocardium [Automatically generated definition].	
MONDO:0044817	acquired idiopathic torsion dystonia	biolink:Disease	mondo	NCIT:C35438|SCTID:230321007		acquired idiopathic torsion dystonia|non-Familial Idiopathic dystonia|idiopathic non-familial dystonia	http://purl.obolibrary.org/obo/MONDO_0044817	An instance of idiopathic torsion dystonia that is acquired during the lifetime of the individual.	NCIT:C35438|SNOMEDCT:230321007
MONDO:0020823	infantile miliaria	biolink:Disease	mondo	SCTID:402824003			http://purl.obolibrary.org/obo/MONDO_0020823		SNOMEDCT:402824003
UBERON:0004491	cardiac muscle tissue of interatrial septum	biolink:AnatomicalEntity	mondo			interatrial septum muscle|interatrial septum myocardium|interatrial septum heart muscle|interatrial septum cardiac muscle tissue	http://purl.obolibrary.org/obo/UBERON_0004491	A portion of cardiac muscle tissue that is part of a interatrial septum [Automatically generated definition].	
MONDO:0019845	iatrogenic or traumatic pituitary deficiency	biolink:Disease	mondo	ICD10:E23.1|Orphanet:95619	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019845		ORPHA:95619
UBERON:0004492	cardiac muscle tissue of cardiac septum	biolink:AnatomicalEntity	mondo			cardiac septum heart muscle|cardiac septum cardiac muscle tissue|cardiac septum muscle|cardiac septum myocardium	http://purl.obolibrary.org/obo/UBERON_0004492	A portion of cardiac muscle tissue that is part of a cardiac septum [Automatically generated definition].	
MONDO:0019844	pituitary hormone deficiency secondary to storage disease	biolink:Disease	mondo	UMLS:CN206788|Orphanet:95618	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019844		UMLS:CN206788|ORPHA:95618
MONDO:0044811	idiopathic torsion dystonia	biolink:Disease	mondo	SCTID:22451001|NCIT:C34564|ICD9:333.6		Schwalbe disease|idiopathic torsion dystonia|dystonia deformans progressiva|Ziehen-oppenheim disease|primary torsion dystonia|Idiopathic torsion dystonia|dystonia musculorum deformans	http://purl.obolibrary.org/obo/MONDO_0044811	Torsion dystonia for which no underlying cause has been identified.	SNOMEDCT:22451001|NCIT:C34564
MONDO:0019847	obsolete congenital adrenal hypoplasia of maternal cause	biolink:Disease	mondo	ICD10:E27.1|Orphanet:95701	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019847		ORPHA:95701
MONDO:0019846	acquired central diabetes insipidus	biolink:Disease	mondo	ICD10:E23.2|Orphanet:95626	ordo_clinical_subtype	acquired CDI|acquired central diabetes insipidus|acquired neurogenic diabetes insipidus	http://purl.obolibrary.org/obo/MONDO_0019846	Acquired central diabetes insipidus (acquired CDI) is a subtype of central diabetes insipidus (CDI), characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production.	ORPHA:95626
MONDO:0020820	distal arthrogryposis type 2B1	biolink:Disease	mondo	DOID:0111600|OMIM:601680		DA2B1	http://purl.obolibrary.org/obo/MONDO_0020820		http://identifiers.org/omim/601680|DOID:0111600
UBERON:0004490	cardiac muscle tissue of atrium	biolink:AnatomicalEntity	mondo			atrial heart muscle|atrial myocardium|atrial cardiac muscle tissue|cardiac atrium muscle	http://purl.obolibrary.org/obo/UBERON_0004490	A portion of cardiac muscle tissue that is part of an atrium [Automatically generated definition].	
MONDO:0019841	pituitary hormone defiency from vascular origin	biolink:Disease	mondo	ICD10:E23.0|Orphanet:95611	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019841		ORPHA:95611
MONDO:0032841	Usher syndrome, type 1M	biolink:Disease	mondo	OMIM:618632		USHER SYNDROME, TYPE 1M; USH1M	http://purl.obolibrary.org/obo/MONDO_0032841		http://identifiers.org/omim/618632
MONDO:0019840	acropectororenal dysplasia	biolink:Disease	mondo	Orphanet:956|ICD10:Q87.8|SCTID:720413004|GARD:0000511	ordo_malformation_syndrome|gard_rare	acro-pectoro-renal field defect|brachydactyly, absent pectoral muscles and agenesis/hypoplasia of kidneys	http://purl.obolibrary.org/obo/MONDO_0019840	Acro-pectoro-renal field defect is a very rare association of a Poland anomaly, that is characterized by unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles.	ORPHA:956|SNOMEDCT:720413004
MONDO:0032842	siddiqi syndrome	biolink:Disease	mondo	OMIM:618635		SIDDIQI SYNDROME; SIDDIS|Deafness, Dystonia, Developmental Delay, and Poor Growth	http://purl.obolibrary.org/obo/MONDO_0032842		http://identifiers.org/omim/618635
MONDO:0019843	pituitary hormone deficiency secondary to a granulomatous disease	biolink:Disease	mondo	UMLS:CN206787|Orphanet:95617	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019843		UMLS:CN206787|ORPHA:95617
MONDO:0032840		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0032840		
MONDO:0019842	obsolete pituitary apoplexy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019842		
MF:0000017	consciousness	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/MF_0000017	Consciousness is an inseparable part of all mental processes. It is that part of the mental process that: a) confers a subjective perspective, a phenomenology, an experience of the mental process of which it is a part; and b) intends the object or event that the mental process is about, should such exist; i.e., it confers intentionality on the mental process.	
MONDO:0007849	keratitis fugax hereditaria	biolink:Disease	mondo	UMLS:C1835697|MESH:C563650|OMIM:148200		keratitis fugax hereditaria|KERATOENDOTHELIITIS fugax hereditaria; KEFH|Keratoendotheliitis fugax hereditaria|KEFH	http://purl.obolibrary.org/obo/MONDO_0007849		http://identifiers.org/omim/148200|MESH:C563650|UMLS:C1835697
MONDO:0056816	vulvar neuroendocrine carcinoma	biolink:Disease	mondo	UMLS:C4288002|NCIT:C128243		vulvar Neuroendocrine cancer|mammalian vulva neuroendocrine carcinoma|neuroendocrine carcinoma of mammalian vulva|vulvar Neuroendocrine carcinoma|vulvar high grade Neuroendocrine neoplasm|vulvar high grade Neuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0056816	A neuroendocrine carcinoma that arises from the vulva. This category includes small cell and large cell neuroendocrine carcinoma. Most small cell neuroendocrine carcinomas of the vulva are Merkel cell carcinomas.	NCIT:C128243|UMLS:C4288002
MONDO:0032849	neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies	biolink:Disease	mondo	OMIM:618651		NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES; NEDSOSB	http://purl.obolibrary.org/obo/MONDO_0032849		http://identifiers.org/omim/618651
MONDO:0056817	rectal adenosquamous carcinoma	biolink:Disease	mondo	NCIT:C43594|UMLS:C1709865		rectal adenosquamous carcinoma|rectal adenosquamous cancer	http://purl.obolibrary.org/obo/MONDO_0056817	An unusual rectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas.	NCIT:C43594|UMLS:C1709865
MONDO:0056818	skin adenosquamous carcinoma	biolink:Disease	mondo	UMLS:C1710103|NCIT:C54250		skin adenosquamous carcinoma|skin adenosquamous cancer	http://purl.obolibrary.org/obo/MONDO_0056818	An uncommon carcinoma that arises from the skin. It is characterized by the presence of malignant glandular and malignant squamous cellular components.	NCIT:C54250|UMLS:C1710103
MONDO:0007847	keloid formation	biolink:Disease	mondo	OMIM:148100		keloid formation	http://purl.obolibrary.org/obo/MONDO_0007847		http://identifiers.org/omim/148100
MONDO:0007848	autosomal dominant keratitis	biolink:Disease	mondo	Orphanet:2334|DOID:0111383|UMLS:C4017065|UMLS:C1835698|MESH:C537022|OMIM:148190|UMLS:CN068649|ICD10:H16.8|SCTID:715339004|GARD:0003089	ordo_disease	dominantly inherited keratitis|keratitis, hereditary|keratitis, autosomal dominant|hereditary keratitis	http://purl.obolibrary.org/obo/MONDO_0007848	Hereditary keratitis is characterised by opacification and vascularisation of the cornea, often associated with macula hypoplasia.	ORPHA:2334|MESH:C537022|DOID:0111383|http://identifiers.org/omim/148190|UMLS:CN068649|SNOMEDCT:715339004|UMLS:C1835698|UMLS:C4017065
MONDO:0056819	nasal cavity and paranasal sinus carcinoma	biolink:Disease	mondo	UMLS:C1710095|GARD:0007650|NCIT:C54293		sinonasal carcinoma|nasal cavity and paranasal sinus carcinoma|paranasal sinus and nasal cavity cancer|nasal cavity and paranasal sinus cancer	http://purl.obolibrary.org/obo/MONDO_0056819	A carcinoma arising from the nasal cavity or paranasal sinuses.	NCIT:C54293|UMLS:C1710095
MONDO:0032848	immunodeficiency 65, susceptibility to viral infections	biolink:Disease	mondo	OMIM:618648		IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS; IMD65	http://purl.obolibrary.org/obo/MONDO_0032848		http://identifiers.org/omim/618648
MONDO:0007845	Kaposi sarcoma, susceptibility to	biolink:Disease	mondo	OMIM:148000	predisposition	multicentric Castleman disease, susceptibility to|Kaposi sarcoma, susceptibility to|susceptibility to Kaposi sarcoma|multiple idiopathic pigmented hemangiosarcoma, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0007845		http://identifiers.org/omim/148000
MF:0000031	cognitive representation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/MF_0000031	A representation which specifically depends on an anatomical structure in the cognitive system of an organism.	
MONDO:0032845	spermatogenic failure 39	biolink:Disease	mondo	OMIM:618643		SPERMATOGENIC FAILURE 39; SPGF39	http://purl.obolibrary.org/obo/MONDO_0032845		http://identifiers.org/omim/618643
MONDO:0007846	KBG syndrome	biolink:Disease	mondo	OMIM:148050|DOID:14780|UMLS:C0220687|ICD10:Q87.8|Orphanet:2332|ICD9:759.89|GARD:0000082|MESH:C537015|SCTID:711156009	ordo_malformation_syndrome|gard_rare	KBGS|KBG syndrome|short stature, characteristic facies, macrodontia, intellectual disability, and skeletal anomalies|short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome|macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies|short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies|KBG syndrome; KBGS|macrodontia, intellectual disability, characteristic facies, short stature, and skeletal anomalies	http://purl.obolibrary.org/obo/MONDO_0007846	KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay.	ORPHA:2332|MESH:C537015|http://identifiers.org/omim/148050|DOID:14780|SNOMEDCT:711156009|UMLS:C0220687
MONDO:0056813	hormone-resistant breast carcinoma	biolink:Disease	mondo	NCIT:C114932		hormone-refractory breast cancer|hormone-resistant breast carcinoma|hormone-resistant breast cancer	http://purl.obolibrary.org/obo/MONDO_0056813	Breast carcinoma that does not respond to hormone therapy.	NCIT:C114932
MF:0000032	bodily disposition	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/MF_0000032	A bodily disposition is a disposition that inheres in some extended organism. Examples are: my disposition to catch a cold when exposed to a virus, my ability to speak the English language.	
MONDO:0032846	osteogenesis imperfecta, type 20	biolink:Disease	mondo	OMIM:618644		OSTEOGENESIS IMPERFECTA, TYPE XX; OI20	http://purl.obolibrary.org/obo/MONDO_0032846		http://identifiers.org/omim/618644
MONDO:0056814	hormone-resistant prostate carcinoma	biolink:Disease	mondo	NCIT:C114933		hormone-resistant prostate cancer|hormone-resistant prostate carcinoma	http://purl.obolibrary.org/obo/MONDO_0056814	Prostate carcinoma that does not respond to hormone therapy.	NCIT:C114933
MONDO:0007843	Kabuki syndrome 1	biolink:Disease	mondo	UMLS:CN030661|OMIM:147920		Kabuki make-Up syndrome|KABUKI syndrome 1; KABUK1|Niikawa-Kuroki syndrome|Kabuki syndrome 1|KABUK1|Kabuki syndrome|Kabuki syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0007843		UMLS:CN030661|http://identifiers.org/omim/147920
MONDO:0032843	oculopharyngeal myopathy with leukoencephalopathy 1	biolink:Disease	mondo	OMIM:618637		OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1	http://purl.obolibrary.org/obo/MONDO_0032843		http://identifiers.org/omim/618637
MF:0000033	mental disposition	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/MF_0000033	A mental disposition is a bodily disposition that is realized in a mental process. 	
MONDO:0056815	liver adenosquamous carcinoma	biolink:Disease	mondo	NCIT:C118630|UMLS:C3898586		liver adenosquamous carcinoma|liver adenosquamous cancer	http://purl.obolibrary.org/obo/MONDO_0056815	A rare carcinoma that arises from the intrahepatic bile ducts and is composed of malignant glandular cells and malignant squamous cells.	NCIT:C118630|UMLS:C3898586
MONDO:0007844	hypogonadotropic hypogonadism 2 with or without anosmia	biolink:Disease	mondo	OMIM:147950|GARD:0003070|DOID:0090083|UMLS:C1563720|ICD10:E23.0		Kallmann syndrome 2|hypogonadotropic hypogonadism 2 with or without anosmia; HH2|HH2|FGFR1 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 2 with or without anosmia|KAL2|hypogonadotropic hypogonadism caused by mutation in FGFR1	http://purl.obolibrary.org/obo/MONDO_0007844	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene.	DOID:0090083|http://identifiers.org/omim/147950|UMLS:C1563720
MONDO:0032844	infantile liver failure syndrome 3	biolink:Disease	mondo	OMIM:618641		INFANTILE LIVER FAILURE SYNDROME 3; ILFS3	http://purl.obolibrary.org/obo/MONDO_0032844		http://identifiers.org/omim/618641
MONDO:0007841	coxopodopatellar syndrome	biolink:Disease	mondo	GARD:0003030|MESH:C535540|ICD10:Q74.1|SCTID:720752007|Orphanet:1509|OMIM:147891|UMLS:C1840061|DOID:0111382	ordo_disease	ischiocoxopodopatellar syndrome; ICPPS|small patella syndrome; SPS|patella aplasia, coxa vara, tarsal synostosis|coxopodopatellar syndrome|congenital coxa vara, patella aplasia and tarsal synostosis|ischiopatellar dysplasia|SPS|small patella syndrome|Coxo-podo-patellar syndrome|ischiocoxopodopatellar syndrome|Scott-Taor syndrome|ICPPS	http://purl.obolibrary.org/obo/MONDO_0007841	Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.	ORPHA:1509|UMLS:C1868581|DOID:0111382|SNOMEDCT:720752007|MESH:C535540|UMLS:C1840061|http://identifiers.org/omim/147891
ENVO:00003030	silage	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_00003030	A fermented, high-moisture forage that can be fed to ruminants.	
MONDO:0007842	Ehlers-Danlos syndrome type 11	biolink:Disease	mondo	SCTID:71322004|MESH:C535884|OMIM:147900|Orphanet:2295|UMLS:C0268349|GARD:0003054|ICD10:Q79.6	ordo_disease	Ehlers-Danlos syndrome, type Xi|EDS XI|EDS Xi, formerly|EDS Xi|familial joint instability syndrome|EDS11|EDS 11 (formerly)|Joint instability syndrome|EDS11, formerly|familial joint laxity|articular hypermobility syndrome|familial Joint instability syndrome|JOINT laxity, familial|Ehlers-Danlos syndrome, type Xi, formerly|Ehlers-Danlos syndrome, type 11 (formerly)	http://purl.obolibrary.org/obo/MONDO_0007842	Ehlers-Danlos syndrome, type 11, is characterised by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also been frequently reported. The syndrome has been described in several families. It is transmitted as an autosomal dominant trait, with high penetrance.	MESH:C535884|http://identifiers.org/omim/147900|SNOMEDCT:71322004|UMLS:C0268349|ORPHA:2295
MONDO:0007840	internal carotid artery, spontaneous dissection of	biolink:Disease	mondo	UMLS:C1840073|OMIM:147820|MESH:C564125		internal carotid artery, spontaneous dissection of	http://purl.obolibrary.org/obo/MONDO_0007840		MESH:C564125|UMLS:C1840073|http://identifiers.org/omim/147820
MF:0000030	representation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/MF_0000030	A dependent continuant which is about a portion of reality.	
MONDO:0020816	miliaria papulosa	biolink:Disease	mondo	SCTID:201192006			http://purl.obolibrary.org/obo/MONDO_0020816		SNOMEDCT:201192006
MONDO:0019838	adenohypophysitis	biolink:Disease	mondo	Orphanet:95512|ICD10:E23.6	ordo_disease	lymphocytic adenohypophysitis|adenohypophysis inflammation|inflammation of adenohypophysis|anterior pituitary hypophysitis	http://purl.obolibrary.org/obo/MONDO_0019838	An autoimmune disease of the pituitary gland which can present with varying degrees of pituitary hormonal impairment and/or with symptoms related to pituitary enlargement. It predominantly affects young women in pregnancy or the peripartum period.	ORPHA:95512
MONDO:0020815	dentigerous cyst	biolink:Disease	mondo	UMLS:C0011428|SCTID:9245008|MESH:D003803		dentigerous odontogenic cyst|Dentigerous odontogenic cyst|dentigerous cyst|Cysts, Dentigerous|Dentigerous Cysts|Dentigerous cyst|dentigerous cyst of jaw|Dentigerous cyst of jaw|follicular cyst of jaw|Dentigerous Cyst|Cyst, Dentigerous	http://purl.obolibrary.org/obo/MONDO_0020815	Most common follicular odontogenic cyst. Occurs in relation to a partially erupted or unerupted tooth with at least the crown of the tooth to which the cyst is attached protruding into the cystic cavity. May give rise to an ameloblastoma and, in rare instances, undergo malignant transformation.	SNOMEDCT:9245008|UMLS:C0011428|MESH:D003803
MONDO:0019837	atrial appendage anomaly	biolink:Disease	mondo	ICD10:Q20.8|Orphanet:95510	ordo_group_of_disorders	atrial auricle anomaly	http://purl.obolibrary.org/obo/MONDO_0019837		ORPHA:95510
MONDO:0020814	miliaria alba	biolink:Disease	mondo	SCTID:201191004			http://purl.obolibrary.org/obo/MONDO_0020814		SNOMEDCT:201191004
UBERON:0004482	musculature of lower limb	biolink:AnatomicalEntity	mondo			musculature of free lower limb|set of muscles of free lower limb|muscle group of free lower limb|free lower limb musculature	http://purl.obolibrary.org/obo/UBERON_0004482	Any collection of muscles that is part of a hindlimb [Automatically generated definition].	
MONDO:0020813	benign testicular sertoli cell tumor	biolink:Disease	mondo	NCIT:C6522		benign testicular sertoli cell neoplasm|benign testicular sertoli cell tumor|benign sertoli cell tumor of testis|benign sertoli cell tumor of the testis|benign sertoli cell neoplasm of testis|benign sertoli cell neoplasm of the testis	http://purl.obolibrary.org/obo/MONDO_0020813	A non-metastasizing sex cord-stromal tumor that arises from the testis. Morphologically, it is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent.	NCIT:C6522
MONDO:0019839	panhypophysitis	biolink:Disease	mondo	Orphanet:95513|ICD10:E23.6	ordo_disease	Infundibulo-panhypophysitis	http://purl.obolibrary.org/obo/MONDO_0019839		ORPHA:95513
MONDO:0020812	exposure, dental pulp	biolink:Disease	mondo	UMLS:C0011406|MESH:D003789|EFO:1001782		Exposure, Dental Pulp|Exposure of tooth pulp|Dental Pulp Exposure|Pulp Exposure, Dental|PULP EXPOSURE DENT|EXPOSURE DENT PULP|DENT PULP EXPOSURE	http://purl.obolibrary.org/obo/MONDO_0020812	The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment.	UMLS:C0011406|MESH:D003789
UBERON:0004480	musculature of limb	biolink:AnatomicalEntity	mondo			limb musculature|set of muscles of limb|limb muscle system|muscle group of limb	http://purl.obolibrary.org/obo/UBERON_0004480	Any collection of muscles that is part of a limb [Automatically generated definition].	
MONDO:0019834	pituitary hormone deficiency from meningeal origin	biolink:Disease	mondo	Orphanet:95505	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019834		ORPHA:95505
MONDO:0019833	pituitary hormone deficiency from tumoral origin	biolink:Disease	mondo	UMLS:CN206780|Orphanet:95503	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019833		UMLS:CN206780|ORPHA:95503
UBERON:0004481	musculature of upper limb	biolink:AnatomicalEntity	mondo			free upper limb musculature|musculature of free upper limb|set of muscles of free upper limb|muscle group of free upper limb	http://purl.obolibrary.org/obo/UBERON_0004481	Any collection of muscles that is part of a forelimb [Automatically generated definition].	
MONDO:0020811	mitochondrial complex III deficiency, nuclear type	biolink:Disease	mondo	OMIMPS:124000			http://purl.obolibrary.org/obo/MONDO_0020811		
MONDO:0020810	congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome	biolink:Disease	mondo	Orphanet:508512	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0020810		ORPHA:508512
MONDO:0019836	congenital anomaly of hepatic vein	biolink:Disease	mondo	Orphanet:95507|ICD10:Q26.8	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0019836		UMLS:C3163825|ORPHA:95507
MONDO:0019835	primary hypophysitis	biolink:Disease	mondo	MESH:D000069281|ICD9:253.8|SCTID:237706000|ICD10:E23.6|Orphanet:95506|ICD9:279.49|NCIT:C132055	ordo_group_of_disorders	lymphocytic hypophysitis|autoimmune hypophysitis	http://purl.obolibrary.org/obo/MONDO_0019835	Immune-mediated inflammation of the pituitary gland often associated with other autoimmune diseases (e.g., hashimoto disease; graves disease; and addison disease).	NCIT:C132055|SNOMEDCT:237706000|ORPHA:95506|MESH:D000069281
MONDO:0019830	congenital anomaly of the inferior vena cava	biolink:Disease	mondo	ICD9:747.49|Orphanet:95499|SCTID:81577001|ICD10:Q26.9	ordo_group_of_disorders	congenital anomaly of the IVC|congenital anomaly of the inferior caval vein	http://purl.obolibrary.org/obo/MONDO_0019830		UMLS:C0265932|ORPHA:95499|SNOMEDCT:81577001
MONDO:0032852	myopathy, congenital, with structured cores and z-line abnormalities	biolink:Disease	mondo	OMIM:618654		MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ|Multiple Structured Core Disease	http://purl.obolibrary.org/obo/MONDO_0032852		http://identifiers.org/omim/618654
MONDO:0032853	myopathy, distal, 6, adult-onset, autosomal dominant	biolink:Disease	mondo	OMIM:618655		MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6	http://purl.obolibrary.org/obo/MONDO_0032853		http://identifiers.org/omim/618655
MONDO:0056820	nasal cavity and paranasal sinus neoplasm	biolink:Disease	mondo	NCIT:C7336|UMLS:C1334925		nasal cavity and paranasal sinus neoplasm	http://purl.obolibrary.org/obo/MONDO_0056820	A benign or malignant neoplasm that affects the nasal cavity or paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.	UMLS:C1334925|NCIT:C7336
MONDO:0056821	bronchiolitis obliterans organizing pneumonia	biolink:Disease	mondo	SCTID:68409003|GARD:0005961	gard_rare	BOOP|organizing pneumonia|constrictive bronchiolitis|organized pneumonia	http://purl.obolibrary.org/obo/MONDO_0056821	Bronchiolitis obliterans organizing pneumonia (BOOP) is a lung disease that causes inflammation in the small air tubes (bronchioles) and air sacs (alveoli). BOOP typically develops in individuals between 40-60 years old; however the disorder may affect individuals of any age. The signs and symptoms of BOOP vary but often include shortness of breath, a dry cough, and fever. BOOP can be caused by viral infections, various drugs, and other medical conditions. If the cause is known, the condition is called secondary BOOP. In many cases, the underlying cause of BOOP is unknown. These cases are called idiopathic BOOP or cryptogenic organizing pneumonia. Treatment often includes corticosteroid medications.	SNOMEDCT:68409003
MONDO:0019832	acquired pituitary hormone deficiency	biolink:Disease	mondo	ICD10:E23.0|Orphanet:95502	ordo_group_of_disorders	acquired hypopituitarism	http://purl.obolibrary.org/obo/MONDO_0019832	An instance of hypopituitarism that is acquired during the lifetime of the individual.	ORPHA:95502
MONDO:0032850	neurooculocardiogenitourinary syndrome	biolink:Disease	mondo	DOID:0111675|OMIM:618652		NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS	http://purl.obolibrary.org/obo/MONDO_0032850		DOID:0111675|http://identifiers.org/omim/618652
MONDO:0056822	amyotonia congenita	biolink:Disease	mondo	OMIM:205000		amyotonia congenita|Oppenheim disease	http://purl.obolibrary.org/obo/MONDO_0056822		http://identifiers.org/omim/205000
MONDO:0019831	congenital anomaly of the coronary sinus	biolink:Disease	mondo	Orphanet:95500|ICD10:Q21.1	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019831		ORPHA:95500
NCBITaxon:30005	Anoplura	organism taxon	mondo	GC_ID:1		sucking lice	http://purl.obolibrary.org/obo/NCBITaxon_30005		
MONDO:0032851	intellectual developmental disorder with impaired language and dysmorphic facies	biolink:Disease	mondo	OMIM:618653		INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF	http://purl.obolibrary.org/obo/MONDO_0032851		http://identifiers.org/omim/618653
UBERON:0004488	musculature of pes	biolink:AnatomicalEntity	mondo			musculature of foot|muscle group of foot|foot musculature|set of muscles of foot	http://purl.obolibrary.org/obo/UBERON_0004488	Any collection of muscles that is part of a foot [Automatically generated definition].	
UBERON:0004489	musculature of manus	biolink:AnatomicalEntity	mondo			musculature of hand|muscle group of hand|hand musculature|set of muscles of hand	http://purl.obolibrary.org/obo/UBERON_0004489	Any collection of muscles that is part of a manus [Automatically generated definition].	
MONDO:0020818	secondary dentine	biolink:Disease	mondo	SCTID:59818004|UMLS:C0011434|MESH:D003809		Reparative dentine|Secondary dentine|sclerotic dentine|Secondary Dentins|Irregular dentine|DENTIN SECOND|SECOND DENTIN|Tertiary dentine|reparative dentine|Dentins, Secondary|Irregular dentin|Secondary Dentin|Secondary dentin|secondary dentin|secondary dentine|irregular dentine|Dentin, Secondary|tertiary dentine|irregular dentin|Sclerotic dentine	http://purl.obolibrary.org/obo/MONDO_0020818	Dentin formed by normal pulp after completion of root end formation.	UMLS:C0011434|SNOMEDCT:59818004|MESH:D003809
MONDO:0020817	miliaria vesiculosa	biolink:Disease	mondo	SCTID:201195008			http://purl.obolibrary.org/obo/MONDO_0020817		SNOMEDCT:201195008
UBERON:0004487	musculature of forelimb zeugopod	biolink:AnatomicalEntity	mondo			muscle group of forearm|musculature of forearm|set of muscles of forearm	http://purl.obolibrary.org/obo/UBERON_0004487	Any collection of muscles that is part of a lower arm [Automatically generated definition].	
MONDO:0056805	benign peripheral nerve granular cell tumor	biolink:Disease	mondo	NCIT:C5502|UMLS:C1332530		benign peripheral nerve granular cell tumor|benign granular cell neoplasm of peripheral nerve|benign granular cell neoplasm of the peripheral nerve|nerve benign granular cell tumor|benign granular cell tumor of peripheral nerve|benign granular cell tumor of nerve|benign granular cell tumor of the peripheral nerve|benign peripheral nerve granular cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0056805	A benign granular cell tumor that involves the nerve.	NCIT:C5502|UMLS:C1332530
MONDO:0056806	non-small cell squamous lung carcinoma	biolink:Disease	mondo	NCIT:C133254|DOID:0080521|SCTID:723301009		non-small cell squamous lung carcinoma|squamous non-small cell lung carcinoma|non-small cell squamous lung cancer	http://purl.obolibrary.org/obo/MONDO_0056806	A squamous cell carcinoma that arises from the lung. It is characterized by the presence of large malignant cells. It includes the clear cell and papillary variants of squamous cell carcinoma.	SNOMEDCT:723301009|NCIT:C133254|DOID:0080521
MONDO:0007858	palmoplantar keratoderma, punctate type 1A	biolink:Disease	mondo	OMIM:148600|DOID:0080214		punctate palmoplantar keratoderma type 1A|Kppp1|PPKP1A|AAGAB punctate palmoplantar keratoderma|keratosis palmoplantaris papulosa|keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type|palmoplantar keratoderma, punctate type IA; PPKP1A|punctate palmoplantar keratoderma caused by mutation in AAGAB|palmoplantar keratoderma, punctate type IA|palmoplantar keratoderma, punctate type 1	http://purl.obolibrary.org/obo/MONDO_0007858	Any punctate palmoplantar keratoderma in which the cause of the disease is a mutation in the AAGAB gene.	DOID:0080214|http://identifiers.org/omim/148600
MONDO:0032858	developmental and epileptic encephalopathy, 81	biolink:Disease	mondo	OMIM:618663		DEE81|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81; EIEE81|epileptic encephalopathy, early infantile, 81	http://purl.obolibrary.org/obo/MONDO_0032858		http://identifiers.org/omim/618663
MONDO:0007859	palmoplantar keratoderma i, striate, focal, or diffuse	biolink:Disease	mondo	GARD:0009172|MESH:C536162|OMIM:148700		SPPK1|palmoplantar keratoderma i, striate, focal, or diffuse|keratoderma, palmoplantar striate form 1|palmoplantar keratoderma I, striate, focal, or diffuse; PPKS1|striate palmoplantar keratoderma 1|keratosis palmoplantaris striata 1|keratoderma, palmoplantar, striate form 1|PPKS1	http://purl.obolibrary.org/obo/MONDO_0007859		MESH:C536162|http://identifiers.org/omim/148700
MONDO:0032859	spermatogenic failure 40	biolink:Disease	mondo	OMIM:618664		SPERMATOGENIC FAILURE 40; SPGF40	http://purl.obolibrary.org/obo/MONDO_0032859		http://identifiers.org/omim/618664
MONDO:0007856	palmoplantar keratoderma-esophageal carcinoma syndrome	biolink:Disease	mondo	DOID:0111506|GARD:0003102|SCTID:111030006|MESH:C536164|Orphanet:2198|OMIM:148500	ordo_disease|gard_rare	keratosis palmoplantaris with esophageal cancer|keratosis palmaris et plantaris with esophageal cancer|tylosis with esophageal cancer|palmoplantar hyperkeratosis-esophageal carcinoma syndrome|howel-Evans syndrome|tylosis - oesophageal carcinoma|palmoplantar keratoderma with esophageal cancer|keratosis palmaris Et plantaris with esophageal cancer|tylosis with esophageal cancer; Toc|tylosis-oesophageal carcinoma syndrome|Bennion-Patterson syndrome|keratosis palmoplantaris-esophageal carcinoma syndrome|Howell-Evans syndrome|palmoplantar keratoderma-esophageal carcinoma syndrome|Toc	http://purl.obolibrary.org/obo/MONDO_0007856	Tylosis with esophageal cancer (TOC) is an inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern.	MESH:C536164|DOID:0111506|http://identifiers.org/omim/148500|SNOMEDCT:111030006|UMLS:C1835664|ORPHA:2198
MONDO:0032856		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0032856		
MONDO:0056802	synovial bursa disease	biolink:Disease	mondo	SCTID:10597006|UMLS:C0263946		disorder of synovial bursa|disease of synovial bursa|disorder of bursa|disease or disorder of synovial bursa|synovial bursa disease or disorder	http://purl.obolibrary.org/obo/MONDO_0056802	A disease or disorder that involves the synovial bursa.	SNOMEDCT:10597006|UMLS:C0263946
MONDO:0032857	diarrhea 11, malabsorptive, congenital	biolink:Disease	mondo	OMIM:618662		Intractable Diarrhea of Infancy Syndrome|DIARRHEA 11, MALABSORPTIVE, CONGENITAL; DIAR11	http://purl.obolibrary.org/obo/MONDO_0032857		http://identifiers.org/omim/618662
MONDO:0007857	keratosis palmaris et plantaris-clinodactyly syndrome	biolink:Disease	mondo	UMLS:C1835663|ICD10:Q82.8|MESH:C563646|Orphanet:86919|OMIM:148520	ordo_disease	palmoplantar keratoderma-clinodactyly syndrome|keratosis palmaris ET plantaris with clinodactyly	http://purl.obolibrary.org/obo/MONDO_0007857	Keratosis palmaris et plantaris-clinodactyly syndrome is characterised by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant.	ORPHA:86919|http://identifiers.org/omim/148520|MESH:C563646|UMLS:C1835663
MONDO:0007854	keratolytic winter erythema	biolink:Disease	mondo	OMIM:148370|MESH:C536155|UMLS:C0406756|SCTID:239064000|GARD:0008275|Orphanet:50943|ICD9:695.89	ordo_disease|gard_rare	Oudtshoorn skin disease|keratolytic winter erythema|Oudtshoorn disease|KWE|Erythrokeratolysis hiemalis ichthyosis|Oudtshoorn skin|Erythrokeratolysis hiemalis|keratolytic WINTER erythema; KWE	http://purl.obolibrary.org/obo/MONDO_0007854	Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission.	MESH:C536155|http://identifiers.org/omim/148370|SNOMEDCT:239064000|ORPHA:50943|UMLS:C0406756
MONDO:0056803	sulfur metabolism disease	biolink:Disease	mondo	SCTID:123809005|UMLS:C1263724		disorder of sulfur metabolism|disorder of sulfur metabolic process|disorder of sulphur metabolism|sulfur compound metabolic process disease|disorder of sulfur compound metabolic process	http://purl.obolibrary.org/obo/MONDO_0056803	A disease that has its basis in the disruption of sulfur compound metabolic process.	SNOMEDCT:123809005|UMLS:C1263724
MONDO:0032854	zimmermann-laband syndrome 3	biolink:Disease	mondo	OMIM:618658		ZIMMERMANN-LABAND SYNDROME 3; ZLS3	http://purl.obolibrary.org/obo/MONDO_0032854		http://identifiers.org/omim/618658
MONDO:0032855	neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies	biolink:Disease	mondo	OMIM:618659		NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA	http://purl.obolibrary.org/obo/MONDO_0032855		http://identifiers.org/omim/618659
MONDO:0007855	keratosis, familial actinic	biolink:Disease	mondo	UMLS:C2675099|OMIM:148390|MESH:C567190		keratosis, familial actinic	http://purl.obolibrary.org/obo/MONDO_0007855		http://identifiers.org/omim/148390|MESH:C567190|UMLS:C2675099
MONDO:0056804	benign neoplasm of peripheral nervous system	biolink:Disease	mondo	DOID:0080320			http://purl.obolibrary.org/obo/MONDO_0056804		DOID:0080320
MONDO:0007852	palmoplantar keratoderma-deafness syndrome	biolink:Disease	mondo	GARD:0003094|DOID:0111505|Orphanet:2202|MESH:C536152|ICD10:Q82.8|UMLS:C1835672|OMIM:148350	ordo_disease	diffuse palmoplantar keratoderma with deafness (subtype)|palmoplantar hyperkeratosis-hearing loss syndrome|focal palmoplantar keratoderma with sensorineural deafness (subtype)|PPK-deafness syndrome|keratoderma, palmoplantar, with deafness|palmoplantar keratoderma and sensorineural deafness|hereditary palmoplantar keratoderma with deafness (subtype)|keratoderma palmoplantar, with deafness|keratoderma palmoplantar deafness|palmoplantar hyperkeratosis-deafness syndrome|palmoplantar keratoderma-hearing loss syndrome	http://purl.obolibrary.org/obo/MONDO_0007852	Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.	http://identifiers.org/omim/148350|DOID:0111505|UMLS:C1835672|ORPHA:2202|MESH:C536152
UBERON:0016458	esophageal hiatus	biolink:AnatomicalEntity	mondo			oesophageal aperture|esophageal hiatus of diaphragm|oesophageal hiatus	http://purl.obolibrary.org/obo/UBERON_0016458	A hole in the diaphragm through which the esophagus passes	
MONDO:0007853	palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome	biolink:Disease	mondo	OMIM:148360|MESH:C536153|Orphanet:538574	ordo_disease	axonal neuropathy with palmoplantar keratoderma|Charcot-Marie-Tooth disease with palmoplantar keratoderma and nail dystrophy|keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy|keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy	http://purl.obolibrary.org/obo/MONDO_0007853		http://identifiers.org/omim/148360|ORPHA:538574|MESH:C536153
MONDO:0007850	autosomal dominant keratitis-ichthyosis-deafness syndrome	biolink:Disease	mondo	DOID:0060871|OMIM:148210|ICD10:Q80.8		Kid syndrome, autosomal dominant|keratitis-ichthyosis-deafness syndrome, autosomal dominant|KID syndrome, autosomal dominant|autosomal dominant KID syndrome	http://purl.obolibrary.org/obo/MONDO_0007850	Autosomal dominant form of KID syndrome.	DOID:0060871|http://identifiers.org/omim/148210
MONDO:0044843	torsion dystonia	biolink:Disease	mondo	SCTID:431034009		torsion dystonia	http://purl.obolibrary.org/obo/MONDO_0044843		SNOMEDCT:431034009
MONDO:0007851	keratoconus 1	biolink:Disease	mondo	MESH:C563649|UMLS:C1835677|OMIM:148300		keratoconus type 1|keratoconus (disease) caused by mutation in VSX1|VSX1 keratoconus (disease)|KTCN1|keratoconus 1|keratoconus 1; KTCN1	http://purl.obolibrary.org/obo/MONDO_0007851	Any keratoconus in which the cause of the disease is a mutation in the VSX1 gene.	http://identifiers.org/omim/148300|MESH:C563649|UMLS:C1835677
MONDO:0019819	double-orifice mitral valve	biolink:Disease	mondo	SCTID:253402005|ICD9:746.89|Orphanet:95474|ICD10:Q23.8	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0019819		SNOMEDCT:253402005|UMLS:C0344770|ORPHA:95474
FOODON:00001141	wheat food product	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00001141		
MONDO:0020805	benign basal cell neoplasm	biolink:Disease	mondo	NCIT:C4743		benign basal cell tumor	http://purl.obolibrary.org/obo/MONDO_0020805	A neoplasm composed of basal cells that remains localized and does not metastasize to other anatomic sites.	NCIT:C4743
UBERON:0004473	musculature of face	biolink:AnatomicalEntity	mondo			musculi faciei|set of muscles of face|muscle group of face|set of facial muscles|entire facial musculature|facial muscles	http://purl.obolibrary.org/obo/UBERON_0004473	Any collection of muscles that is part of a face.	
MONDO:0019827	disease associated with non-acquired combined pituitary hormone deficiency	biolink:Disease	mondo	UMLS:CN206775|Orphanet:95495	ordo_group_of_disorders	secondary non-acquired combined pituitary hormone deficiency	http://purl.obolibrary.org/obo/MONDO_0019827		ORPHA:95495|UMLS:CN206775
UBERON:0004474	musculature of arm	biolink:AnatomicalEntity	mondo			set of muscles of arm|arm muscle system|muscle group of arm|arm musculature	http://purl.obolibrary.org/obo/UBERON_0004474	Any collection of muscles that is part of an arm [Automatically generated definition].	
MONDO:0020804	basal cell carcinoma	biolink:Disease	mondo	NCIT:C7586|MESH:D002280|NCIT:C156767		malignant basal cell neoplasm|basal cell cancer|epithelioma, basal cell|ulcer, rodent|rodent ulcer	http://purl.obolibrary.org/obo/MONDO_0020804	A carcinoma involving the basal cells.	NCIT:C7586|NCIT:C156767|MESH:D002280
FOODON:00001145	microbial food product	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00001145	A food product derived from one or more microorganisms including bacteria, mold, and yeast.	
MONDO:0019826	abnormal origin or aberrant course of coronary artery	biolink:Disease	mondo	ICD10:Q24.5|Orphanet:95493	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019826		ORPHA:95493
MONDO:0019829	congenital anomaly of superior vena cava	biolink:Disease	mondo	ICD9:747.49|Orphanet:95498|ICD10:Q26.9|SCTID:70195006	ordo_group_of_disorders	congenital anomaly of the SVC|congenital anomaly of superior caval vein	http://purl.obolibrary.org/obo/MONDO_0019829		UMLS:C0265928|ORPHA:95498|SNOMEDCT:70195006
UBERON:0004471	musculature of pectoral girdle	biolink:AnatomicalEntity	mondo			pectoral girdle muscles|set of muscles of pectoral girdle|muscle group of pectoral girdle|pectoral girdle musculature	http://purl.obolibrary.org/obo/UBERON_0004471	A subdivision of the musculature of the body in the pectoral girdle region. Includes pectoral and shoulder muscles.	
MONDO:0020803	bundle branch block	biolink:Disease	mondo	SCTID:6374002			http://purl.obolibrary.org/obo/MONDO_0020803	A defect of the bundle branches or fascicles in the electrical conduction system of the heart.	SNOMEDCT:6374002
MONDO:0019828	pituitary stalk interruption syndrome	biolink:Disease	mondo	GARD:0013209|ICD10:E23.6|NCIT:C121150|UMLS:CN206776|Orphanet:95496|UMLS:C4053775|SCTID:715727009	ordo_morphological_anomaly|gard_rare	hypoplastic anterior pituitary, missing stalk, and ectopic posterior pituitary|PSIS|ectopic neurohypophysis	http://purl.obolibrary.org/obo/MONDO_0019828	Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.	NCIT:C121150|SNOMEDCT:715727009|ORPHA:95496|UMLS:CN206776|UMLS:C4053775
MONDO:0020802	obsolete basal cell cancer	biolink:Disease	mondo	NCIT:C7586			http://purl.obolibrary.org/obo/MONDO_0020802	A neoplasm composed of basal cells that metastasizes to other anatomic sites.	NCIT:C7586
FOODON:00001143	fungus food product	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00001143	A food product consisting of an edible fungi or mushroom or yeast.	
MONDO:0019823	premature closure of the arterial duct	biolink:Disease	mondo	Orphanet:95486|ICD10:Q25.8	ordo_morphological_anomaly	premature closure of the patent ductus arteriosus	http://purl.obolibrary.org/obo/MONDO_0019823	Premature closure of the arterial duct is a rare arterial duct anomaly, defined as a significant constriction or closure of the fetal arterial duct in the absence of structural heart defects with pathognomonic features of increased right ventricular afterload, tricuspid regurgitation and, consequently, right atrial dilation and right ventricular hypertrophy. The severity of symptoms is related to the degree and rate of ductal constriction and ranges from mild postnatal respiratory distress to development of ventricular failure with fetal hydrops and intrauterine death or severe cardiopulmonary compromise in the postnatal period. It may be associated with a prenatal exposure to cyclooxygenase inhibitors or corticosteroids.	ORPHA:95486
GO:0140353	lipid export from cell	biolink:OntologyClass	mondo			lipid efflux	http://purl.obolibrary.org/obo/GO_0140353	The directed movement of a lipid from a cell, into the extracellular region.	
MONDO:0020801	rectal medullary carcinoma	biolink:Disease	mondo	NCIT:C60640		rectal medullary carcinoma	http://purl.obolibrary.org/obo/MONDO_0020801	A rare, invasive rectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis.	NCIT:C60640
MONDO:0020800	demyelinating disease of central nervous system	biolink:Disease	mondo	ICD9:341.9|ICD9:341.8|SCTID:6118003|NCIT:C34526|GARD:0012052|UMLS:C0011302		Demyelinating disease central nervous system (CNS)|demyelinating disorder of central nervous system|demyelinating disease central nervous system (cns)|Demyelinating disorders of the central nervous system|Demyelinating Disorder of Central Nervous System|demyelinating disease of central nervous system|demyelinating cns disease|demyelinating disorders of the central nervous system|Demyelinating disease of central nervous system|Demyelinating Disease of Central Nervous System|Demyelinating CNS disease	http://purl.obolibrary.org/obo/MONDO_0020800	Any condition in which there is degeneration of the myelin sheath that covers the nerves of the central nervous system.	UMLS:C0011302|SNOMEDCT:6118003|NCIT:C34526
UBERON:0004470	musculature of pelvic girdle	biolink:AnatomicalEntity	mondo			muscle group of pelvic girdle|pelvic girdle musculature|pelvic girdle muscles|set of muscles of pelvis|set of muscles of pelvic girdle|muscle group of pelvis|pelvic girdle muscle system|muscular system of pelvis	http://purl.obolibrary.org/obo/UBERON_0004470	Any collection of muscles that is part of a pelvic girdle [Automatically generated definition].	
MONDO:0019822	arterial duct anomaly	biolink:Disease	mondo	Orphanet:95485	ordo_group_of_disorders	patent ductus arteriosus anomalies	http://purl.obolibrary.org/obo/MONDO_0019822		ORPHA:95485
GO:0140352	export from cell	biolink:OntologyClass	mondo			efflux	http://purl.obolibrary.org/obo/GO_0140352	The directed movement of some substance from a cell, into the extracellular region. This may occur via transport across the plasma membrane or via exocytosis.	
MONDO:0019825	congenital coronary artery aneurysm	biolink:Disease	mondo	ICD10:Q24.5|SCTID:204378009|Orphanet:95491	ordo_morphological_anomaly	congenital coronary aneurysm	http://purl.obolibrary.org/obo/MONDO_0019825	Congenital coronary artery aneurysm is a rare congenital coronary artery malformation defined as a more than 1.5 fold the normal size dilatation of a coronary artery segment with no identified underlying inflammatory or connective tissue disease. It may be asymptomatic or may present with angina pectoris, myocardial infarction, sudden cardiac death, fistula formation, pericardial tamponade, compression of surrounding structures, or congestive heart failure.	ORPHA:95491|SNOMEDCT:204378009
MONDO:0019824	non-acquired pituitary hormone deficiency	biolink:Disease	mondo	Orphanet:95488|ICD10:E23.0	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019824		ORPHA:95488
MONDO:0032863	spermatogenic failure 41	biolink:Disease	mondo	OMIM:618670		SPERMATOGENIC FAILURE 41; SPGF41	http://purl.obolibrary.org/obo/MONDO_0032863		http://identifiers.org/omim/618670
MONDO:0032864	intellectual developmental disorder with speech delay, autism, and dysmorphic facies	biolink:Disease	mondo	OMIM:618672		INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF	http://purl.obolibrary.org/obo/MONDO_0032864		http://identifiers.org/omim/618672
MONDO:0019821	aneurysm or dilatation of ascending aorta	biolink:Disease	mondo	Orphanet:95484|ICD10:Q25.4	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0019821		ORPHA:95484
UBERON:0004479	musculature of trunk	biolink:AnatomicalEntity	mondo			muscle group of trunk|muscular system of trunk|set of muscles of trunk	http://purl.obolibrary.org/obo/UBERON_0004479	Any collection of muscles that is part of a trunk [Automatically generated definition].	
MONDO:0032862	hydrocephalus, congenital communicating, 1	biolink:Disease	mondo	OMIM:618667		HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1; HYDCC1	http://purl.obolibrary.org/obo/MONDO_0032862		http://identifiers.org/omim/618667
MONDO:0019820	univentricular cardiopathy	biolink:Disease	mondo	Orphanet:95483	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019820		ORPHA:95483
MONDO:0020809	benign sertoli cell tumor	biolink:Disease	mondo	NCIT:C67012|ICDO:8630/0		SERTOLI CELL TUMOR, BENIGN|Benign Sertoli Cell Tumor|Benign Androblastoma	http://purl.obolibrary.org/obo/MONDO_0020809	A Sertoli cell tumor of the testis or the ovary which remains localized and does not metastasize to another anatomic site.	NCIT:C67012
UBERON:0004478	musculature of larynx	biolink:AnatomicalEntity	mondo			muscle group of larynx|laryngeal muscles set|laryngeal muscles|set of muscles of larynx|set of laryngeal muscles	http://purl.obolibrary.org/obo/UBERON_0004478	The collection of muscles that are part of the larynx.	
MONDO:0020808	testicular sertoli cell tumor	biolink:Disease	mondo	NCIT:C4672		Sertoli Cell Neoplasm of Testis|Testicular Sertoli Cell Neoplasm|Sertoli Cell Neoplasm of the Testis|Testicular Sertoli Cell Tumor, Not Otherwise Specified|Sertoli Cell Tumor of Testis|Sertoli Cell Tumor of the Testis|Testicular Sertoli Cell Tumor, NOS|Testicular Sertoli Cell Tumor	http://purl.obolibrary.org/obo/MONDO_0020808	A sex cord-stromal tumor that arises from the testis and is characterized by the presence of neoplastic cells with features of Sertoli cells. It usually presents as a slow growing testicular mass. The vast majority of cases follow a benign clinical course.	NCIT:C4672
MONDO:0032860	intellectual developmental disorder, autosomal recessive 72	biolink:Disease	mondo	OMIM:618665		INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72|Mental Retardation, Autosomal Recessive 72	http://purl.obolibrary.org/obo/MONDO_0032860		http://identifiers.org/omim/618665
UBERON:0004475	musculature of hip	biolink:AnatomicalEntity	mondo			muscle group of hip|hip musculature|set of muscles of hip	http://purl.obolibrary.org/obo/UBERON_0004475	The collection of muscles that form attachments to the hip skeleton.	
MONDO:0020807	ovarian sertoli-stromal cell tumor	biolink:Disease	mondo	NCIT:C39966		Ovarian Sertoli-Stromal Cell Tumor|Ovarian Sertoli-Stromal Tumor	http://purl.obolibrary.org/obo/MONDO_0020807	A sex cord-stromal tumor that arises from the ovary and is composed entirely of, or in various combinations of, Sertoli cells, Leydig cells, and fibroblast-like cells.	NCIT:C39966
MONDO:0020806	sinoatrial block	biolink:Disease	mondo	SCTID:65778007			http://purl.obolibrary.org/obo/MONDO_0020806	A heart block that is initiated in the sinoatrial node.	SNOMEDCT:65778007
UBERON:0004476	musculature of shoulder	biolink:AnatomicalEntity	mondo			muscle group of shoulder|set of muscles of shoulder	http://purl.obolibrary.org/obo/UBERON_0004476	The collection of muscles that form attachments to the shoulder skeleton.	
MONDO:0019890	non-distal trisomy 9q	biolink:Disease	mondo	ICD10:Q92.3|SCTID:764997000|Orphanet:96112	ordo_malformation_syndrome	non-telomeric trisomy 9q|non-distal duplication 9q|non-distal trisomy type 9q	http://purl.obolibrary.org/obo/MONDO_0019890	Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported.	SNOMEDCT:764997000|ORPHA:96112
MONDO:0005248		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005248		
MONDO:0005247	urinary tract infection (disease)	biolink:Disease	mondo	NCIT:C50791|SCTID:68566005|EFO:0003103|ICD9:599.0		infection, urinary tract|tract, infection Of urinary|urinary tract infection|urinary tract infectious disease|UTI	http://purl.obolibrary.org/obo/MONDO_0005247	A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine.	NCIT:C50791|SNOMEDCT:68566005
MONDO:0005249	pneumonia	biolink:Disease	mondo	ICD9:484.8|ICD9:483.8|ICD10:J15|ICD9:486|COHD:255848|MESH:D011014|NCIT:C3333|EFO:0003106|UMLS:C0032285|DOID:552|ICD9:483|SCTID:233604007		acute pneumonia	http://purl.obolibrary.org/obo/MONDO_0005249	An acute, acute and chronic, or chronic inflammation focally or diffusely affecting the lung parenchyma, caused by an infection in one or both of the lungs (by bacteria, viruses, fungi, or mycoplasma.). Symptoms include cough, shortness of breath, fevers, chills, chest pain, headache, sweating, and weakness.	UMLS:C0032285|SNOMEDCT:233604007|NCIT:C3333|DOID:552|MESH:D011014
MONDO:0005244	peripheral neuropathy	biolink:Disease	mondo	UMLS:C0442874|NCIT:C119734|NCIT:C4731|SCTID:386033004|ICD10:G62.9|EFO:0004149|DOID:870|MedDRA:10034606|EFO:0003100		neuropathy|peripheral nerve disorder|peripheral neuropathy	http://purl.obolibrary.org/obo/MONDO_0005244	A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs.	SNOMEDCT:386033004|NCIT:C4731|UMLS:C0442874|NCIT:C119734|DOID:870
MONDO:0005243	obsolete Cushing syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005243		
MONDO:0005246	osteomyelitis (disease)	biolink:Disease	mondo	ICD9:730.0|DOID:1019|UMLS:C0029443|ICD9:730.28|ICD9:730.1|NCIT:C27577|GARD:0007286|ICD9:730.20|COHD:141663|ICD9:730.97|SCTID:60168000|ICD9:730.96|MESH:D010019|EFO:0003102|ICD9:730.94|ICD9:730.01|ICD9:730.93|ICD9:730.11|ICD9:730.92|HP:0002754|ICD9:730.10		osteomyelitis	http://purl.obolibrary.org/obo/MONDO_0005246	An acute or chronic inflammation of the bone and its structures due to infection with pyogenic bacteria.	UMLS:C0029443|SNOMEDCT:60168000|MESH:D010019|DOID:1019|NCIT:C27577
MONDO:0005245	obsolete testicular seminoma (disease)	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005245		
MONDO:0005240	kidney disease	biolink:Disease	mondo	ICD10:N08|SCTID:90708001|MESH:D007674|UMLS:C0022658|ICD9:583.81|ICD10:N28.9|EFO:0003086|DOID:557|NCIT:C3149		nephropathy|kidney disease or disorder|disorder of kidney|renal disorder|disease of kidney|disorder of kidney|disease or disorder of kidney|kidney disease|kidney disorder|renal disease	http://purl.obolibrary.org/obo/MONDO_0005240	A disease involving the kidney.	NCIT:C3149|DOID:557|MESH:D007674|SNOMEDCT:90708001|UMLS:C0022658
MONDO:0005242	empyema	biolink:Disease	mondo	MESH:D004653|NCIT:C34572|ICD9:510|EFO:0003097|SCTID:312682007		collection of pus	http://purl.obolibrary.org/obo/MONDO_0005242	An accumulation of pus in a body cavity, usually the pleural space.	MESH:D004653|NCIT:C34572|SNOMEDCT:312682007
MONDO:0005241	obsolete adrenocortical carcinoma (disease)	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005241		
MONDO:0017237	hereditary sensorimotor neuropathy with hyperelastic skin	biolink:Disease	mondo	UMLS:CN202738|Orphanet:280598|ICD10:G60.0|GARD:0011010	gard_rare|ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017237		ORPHA:280598|UMLS:CN202738
MONDO:0017238	hemoglobinopathy Toms River	biolink:Disease	mondo	ICD10:D58.2|Orphanet:280615	ordo_disease	transient neonatal cyanosis and anemia due to Toms River Hemoglobin	http://purl.obolibrary.org/obo/MONDO_0017238		ORPHA:280615
MONDO:0019899	distal monosomy 20q	biolink:Disease	mondo	Orphanet:96152|ICD10:Q93.5	ordo_malformation_syndrome	monosomy 20qter|telomeric deletion 20q|distal deletion 20q|distal monosomy type 20q	http://purl.obolibrary.org/obo/MONDO_0019899		ORPHA:96152
MONDO:0017239	familial progressive hyper- and hypopigmentation	biolink:Disease	mondo	ICD10:L81.8|Orphanet:280628	ordo_disease	FPHH	http://purl.obolibrary.org/obo/MONDO_0017239	Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance.	ORPHA:280628
MONDO:0019896	Kleefstra syndrome due to 9q34 microdeletion	biolink:Disease	mondo	UMLS:CN206831|Orphanet:96147|ICD10:Q87.8	ordo_etiological_subtype	Kleefstra syndrome due to monosomy 9q34|9qSTDS|Kleefstra syndrome due to del(9)(q34)|9q subtelomeric deletion syndrome|Kleefstra syndrome due to 9q subtelomeric deletion	http://purl.obolibrary.org/obo/MONDO_0019896		ORPHA:96147|UMLS:CN206831
MONDO:0017233	familial Alzheimer-like prion disease	biolink:Disease	mondo	UMLS:CN202723|Orphanet:280397|SCTID:721219005|ICD10:A81.8|UMLS:C4303482	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017233		UMLS:CN202723|UMLS:C4303482|SNOMEDCT:721219005|ORPHA:280397
MONDO:0017234	inherited prion disease	biolink:Disease	mondo	Orphanet:280400|UMLS:CN202725|ICD10:A81.8	ordo_group_of_disorders	familial prion disease|hereditary prion disease	http://purl.obolibrary.org/obo/MONDO_0017234	An instance of prion disease that is caused by an inherited modification of the individual's genome.	UMLS:CN202725|ORPHA:280400
MONDO:0019895	distal monosomy 4q	biolink:Disease	mondo	Orphanet:96145|ICD10:Q93.5	ordo_malformation_syndrome	distal monosomy type 4q|distal deletion 4q|telomeric deletion 4q|monosomy 4qter	http://purl.obolibrary.org/obo/MONDO_0019895		ORPHA:96145
MONDO:0019898	distal monosomy 14q	biolink:Disease	mondo	Orphanet:96150|ICD10:Q93.5	ordo_malformation_syndrome	telomeric deletion 14q|distal deletion 14q|distal monosomy type 14q	http://purl.obolibrary.org/obo/MONDO_0019898	Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported.	ORPHA:96150
MONDO:0017235	familial omphalocele syndrome with facial dysmorphism	biolink:Disease	mondo	UMLS:CN202726|Orphanet:280403	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0017235	Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands.	UMLS:CN202726|ORPHA:280403
MONDO:0019897	distal monosomy 12q	biolink:Disease	mondo	ICD10:Q93.5|Orphanet:96149	ordo_malformation_syndrome	monosomy 12qter|distal monosomy type 12q|telomeric deletion 12q|distal deletion 12q	http://purl.obolibrary.org/obo/MONDO_0019897		ORPHA:96149
MONDO:0017236	rapidly progressive glomerulonephritis	biolink:Disease	mondo	ICD9:582.4|UMLS:C0221239|NCIT:C35264|ICD9:580.4|SCTID:236392004|MedDRA:10018378|DOID:4776|COHD:196464|ICD10:N01|Orphanet:280569|ICD9:583.4	ordo_disease	crescentic glomerulonephritis|RPGN	http://purl.obolibrary.org/obo/MONDO_0017236	Inflammation of the glomeruli that is characterized by a rapid loss in renal function with glomerular crescent formation observed on biopsy; it is often seen in patients with concomitant autoimmune disease, like Goodpasture's syndrome or systemic lupus erythematosus.	ORPHA:280569|SNOMEDCT:236392004|NCIT:C35264|MEDDRA:10018378|DOID:4776|UMLS:C0221239
NCBITaxon:140713	Tunga	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_140713		
MONDO:0019892	distal monosomy 7p	biolink:Disease	mondo	ICD10:Q93.5|Orphanet:96126	ordo_malformation_syndrome	monosomy 7pter|distal monosomy type 7p|distal deletion 7p|telomeric deletion 7p	http://purl.obolibrary.org/obo/MONDO_0019892		ORPHA:96126
PATO:0002182	molecular quality	biolink:OntologyClass	mondo			relational molecular quality	http://purl.obolibrary.org/obo/PATO_0002182	A quality which inheres in a molecular entity, a single molecule, atom, ion, radical etc.	
MONDO:0019891	monosomy 22	biolink:Disease	mondo	NCIT:C36461|ICD10:Q93.0|Orphanet:96123|UMLS:C0795878	ordo_malformation_syndrome	monosomy type 22|deletion 22|Del(22)	http://purl.obolibrary.org/obo/MONDO_0019891		NCIT:C36461|UMLS:C0795878|ORPHA:96123
MONDO:0017230	autosomal semi-dominant severe lipodystrophic laminopathy	biolink:Disease	mondo	Orphanet:280365|ICD10:E88.1|UMLS:CN202719	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017230		UMLS:CN202719|ORPHA:280365
MONDO:0019894	obsolete non-distal monosomy 7p	biolink:Disease	mondo	ICD10:Q93.5|Orphanet:96136		non-distal monosomy type 7p|non-telomeric monosomy 7p|non-distal deletion 7p	http://purl.obolibrary.org/obo/MONDO_0019894		ORPHA:96136
MONDO:0017231	erythropoietic uroporphyria associated with myeloid malignancy	biolink:Disease	mondo	ICD10:E80.2|GARD:0010948|Orphanet:280379	gard_rare|ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017231		ORPHA:280379
MONDO:0017232	recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	biolink:Disease	mondo	Orphanet:280384	ordo_disease	IDMDC	http://purl.obolibrary.org/obo/MONDO_0017232	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disabilty disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position.	ORPHA:280384
MONDO:0019893	distal monosomy 19p13.3	biolink:Disease	mondo	Orphanet:96129|ICD10:Q93.5	ordo_malformation_syndrome	telomeric deletion 19p|distal deletion 19p	http://purl.obolibrary.org/obo/MONDO_0019893	Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation).	ORPHA:96129
PATO:0002181	displaced	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0002181	A positional quality inhering in a bearer by virtue the bearer's being changed in position.	
MONDO:0005259	Asperger syndrome	biolink:Disease	mondo	DOID:0050432|ICD10:F84.5|EFO:0003757|SCTID:23560001|NCIT:C97159|GARD:0005855|MESH:D020817|OMIMPS:608638		asperger syndrome, susceptibility to|autism spectrum disorder without disorder of intellectual development and with mild or no impairment of functional language|ASPG	http://purl.obolibrary.org/obo/MONDO_0005259	A disorder most often diagnosed in the pediatric years in which the individual displays marked impairment in social interaction and a repetitive, stereotyped pattern of behavior. The individual, however, displays no delay in language or cognitive development, which differentiates Asperger Syndrome from autism.	SNOMEDCT:23560001|MESH:D020817|DOID:0050432|NCIT:C97159
MONDO:0005258	autism spectrum disorder	biolink:Disease	mondo	COHD:439776|SCTID:408856003|EFO:0003756|DOID:0060041|NCIT:C88412		autistic spectrum disorder|pervasive developmental disorders	http://purl.obolibrary.org/obo/MONDO_0005258	A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors.	NCIT:C88412|DOID:0060041|SNOMEDCT:408856003
MONDO:0005255	mild heart failure	biolink:Disease	mondo	EFO:0003147|Wikipedia:New_York_Heart_Association_Functional_Classification			http://purl.obolibrary.org/obo/MONDO_0005255	Heart failure characterized by mild symptoms (mild shortness of breath and/or angina) and slight limitation during ordinary activity.	
MONDO:0005254	symptomatic heart failure	biolink:Disease	mondo	EFO:0003146			http://purl.obolibrary.org/obo/MONDO_0005254	A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exerciseb& etc	
MF:0000061	orgasm	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/MF_0000061	Orgasm is the sudden discharge of accumulated sexual tension during the sexual response cycle, resulting in rhythmic muscular contractions in the pelvic region characterized by sexual pleasure.  http://en.wikipedia.org/wiki/Orgasm	
MONDO:0005257	advanced heart failure	biolink:Disease	mondo	Wikipedia:New_York_Heart_Association_Functional_Classification|EFO:0003149			http://purl.obolibrary.org/obo/MONDO_0005257	Patients with advanced heart failure have severe limitations, experiences symptoms even while at rest and are mostly bedbound patients.	
MONDO:0020871	obsolete name syndrome	biolink:Disease	mondo	Orphanet:623			http://purl.obolibrary.org/obo/MONDO_0020871		ORPHA:623
MONDO:0005256	moderate heart failure	biolink:Disease	mondo	EFO:0003148|Wikipedia:New_York_Heart_Association_Functional_Classification			http://purl.obolibrary.org/obo/MONDO_0005256	Heart failure characterized by marked limitation in activity due to symptoms, even during less-than-ordinary activity, e.g. walking short distances (20b100 m). Patients with moderate heart failure are comfortable only at rest.	
MONDO:0005251	obsolete pauciarticular juvenile rheumatoid arthritis	biolink:Disease	mondo	EFO:0003114|SCTID:74391003|ICD9:714.32|ICD10:M08.4			http://purl.obolibrary.org/obo/MONDO_0005251	A type of juvenile idiopathic arthritis affecting which is a form of arthritis which affect children.	SNOMEDCT:74391003
MONDO:0005250	placental villitis	biolink:Disease	mondo	SCTID:388604008|UMLS:C1270169|EFO:0003110			http://purl.obolibrary.org/obo/MONDO_0005250	Inflammatory process that involves the chorionic villi (villitis) of the placenta.	UMLS:C1270169|SNOMEDCT:388604008
CHEBI:33608	hydrogen molecular entity	biolink:ChemicalSubstance	mondo			hydrogen molecular entities|hydrogen compounds	http://purl.obolibrary.org/obo/CHEBI_33608		
MONDO:0005253	high output heart failure	biolink:Disease	mondo	UMLS:C0221045|SCTID:10091002|Wikipedia:High-output_cardiac_failure|EFO:0003145			http://purl.obolibrary.org/obo/MONDO_0005253	High-output heart failure is a heart condition that occurs when the cardiac output is higher than normal.	SNOMEDCT:10091002|UMLS:C0221045
MONDO:0005252	heart failure	biolink:Disease	mondo	SCTID:84114007|MESH:D006333|ICD9:428|NCIT:C50577|EFO:0003144|COHD:316139|ICD9:428.9|UMLS:CN236639		cardiac failure|cardiac insufficiency|insufficiency, Cardiac|failure, heart|heart failure	http://purl.obolibrary.org/obo/MONDO_0005252	Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction.	SNOMEDCT:84114007|NCIT:C50577|UMLS:CN236639|MESH:D006333
PATO:0002198	quality of a substance	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0002198	A quality inhering in a bearer by virtue of its constitution.	
MONDO:0017226	Pelizaeus-Merzbacher-like disease	biolink:Disease	mondo	ICD10:E75.2|SCTID:717042001|GARD:0012300|Orphanet:280270	ordo_disease|gard_rare	PMLD	http://purl.obolibrary.org/obo/MONDO_0017226	Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD).	ORPHA:280270|SNOMEDCT:717042001
MONDO:0019889	distal trisomy 22q	biolink:Disease	mondo	Orphanet:96109|SCTID:764512003|ICD10:Q92.3	ordo_malformation_syndrome	distal duplication 22q|telomeric duplication 22q|distal trisomy type 22q|trisomy 22qter	http://purl.obolibrary.org/obo/MONDO_0019889	Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disabilty and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported.	SNOMEDCT:764512003|ORPHA:96109
MONDO:0017227	autoimmune pancreatitis type 1	biolink:Disease	mondo	Orphanet:280302|UMLS:CN202712|SCTID:722872000|UMLS:C4302243|ICD10:K86.1|EFO:1000780|PMID:25985088	ordo_clinical_subtype	IgG4-related pancreatitis|AIP type 1|autoimmune pancreatitis type 1|lymphoplasmacytic sclerosing pancreatitis	http://purl.obolibrary.org/obo/MONDO_0017227	60 years) and presenting with abdominal pain, steatorrhea, obstructive jaundice and other organ (bile duct, kidneys and retroperitoneum) involvement. It is thought to be due to an immunoglobulin G4 (IgG4)-associated systemic disease.	SNOMEDCT:722872000|ORPHA:280302|UMLS:CN202712|UMLS:C4302243
MONDO:0019888	distal trisomy 20q	biolink:Disease	mondo	Orphanet:96107|SCTID:764500002|ICD10:Q92.3	ordo_malformation_syndrome	distal trisomy type 20q|trisomy 20qter|distal duplication 20q|telomeric duplication 20q	http://purl.obolibrary.org/obo/MONDO_0019888	Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported.	SNOMEDCT:764500002|ORPHA:96107
MONDO:0020866	nasopharyngeal diphtheria	biolink:Disease	mondo	ICD9:032.1|SCTID:75589004|NCIT:C34547|UMLS:C0012558		nasopharyngeal diphtheria|Nasopharyngeal Diphtheria|Nasopharyngeal diphtheria	http://purl.obolibrary.org/obo/MONDO_0020866	Infection of the nasopharynx by Corynebacterium diphtheriae.	NCIT:C34547|UMLS:C0012558|SNOMEDCT:75589004
MONDO:0017228	autoimmune pancreatitis type 2	biolink:Disease	mondo	ICD10:K86.1|Orphanet:280315|UMLS:CN202713	ordo_clinical_subtype	duct-centric pancreatitis|AIP type 2	http://purl.obolibrary.org/obo/MONDO_0017228	60 years) and presenting with abdominal pain, steatorrhea and obstructive jaundice.	ORPHA:280315|UMLS:CN202713
MONDO:0017229	distal monosomy 12p	biolink:Disease	mondo	ICD10:Q93.5|Orphanet:280325|UMLS:CN202714	ordo_malformation_syndrome	distal monosomy type 12p|12p13.33 microdeletion syndrome|Del(12)(p13.33)|distal deletion 12p	http://purl.obolibrary.org/obo/MONDO_0017229	Distal monosomy 12p is a rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly.	ORPHA:280325|UMLS:CN202714
MONDO:0017222	Pelizaeus-Merzbacher disease, classic form	biolink:Disease	mondo	SCTID:87607002|Orphanet:280219|ICD10:E75.2	ordo_clinical_subtype	classic PMD	http://purl.obolibrary.org/obo/MONDO_0017222	The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD.	SNOMEDCT:87607002|UMLS:C0751916|ORPHA:280219
MONDO:0019885	distal trisomy 11q	biolink:Disease	mondo	MESH:C538294|SCTID:764447009|ICD10:Q92.3|Orphanet:96103	ordo_malformation_syndrome	distal duplication 11q|telomeric duplication 11q|distal trisomy type 11q|trisomy 11qter	http://purl.obolibrary.org/obo/MONDO_0019885	Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported.	UMLS:C2931797|SNOMEDCT:764447009|MESH:C538294|ORPHA:96103
MONDO:0017223	Pelizaeus-Merzbacher disease, transitional form	biolink:Disease	mondo	Orphanet:280224|ICD10:E75.2	ordo_clinical_subtype	transitional PMD	http://purl.obolibrary.org/obo/MONDO_0017223	The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD.	ORPHA:280224|UMLS:C0751917
MONDO:0019884	distal trisomy 10q	biolink:Disease	mondo	MESH:C538087|SCTID:718689000|ICD10:Q92.3|Orphanet:96102	ordo_malformation_syndrome	distal duplication 10q|telomeric duplication 10q|distal trisomy type 10q|trisomy 10qter	http://purl.obolibrary.org/obo/MONDO_0019884	Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay.	UMLS:C2931731|UMLS:C2931728|MESH:C538087|ORPHA:96102|SNOMEDCT:718689000
MONDO:0017224	Pelizaeus-Merzbacher disease in female carriers	biolink:Disease	mondo	UMLS:CN202706|ICD10:E75.2|Orphanet:280229	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017224	Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the PLP1 gene (Xq22).	ORPHA:280229|UMLS:CN202706
MONDO:0019887	distal trisomy 16q	biolink:Disease	mondo	SCTID:764459008|Orphanet:96106|ICD10:Q92.3	ordo_malformation_syndrome	distal duplication 16q|telomeric duplication 16q|distal trisomy type 16q|trisomy 16qter	http://purl.obolibrary.org/obo/MONDO_0019887	Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported.	SNOMEDCT:764459008|ORPHA:96106
MONDO:0019886	distal trisomy 13q	biolink:Disease	mondo	SCTID:764454003|ICD10:Q92.3|Orphanet:96105	ordo_malformation_syndrome	telomeric duplication 13q|distal trisomy type 13q|trisomy 13qter|distal duplication 13q	http://purl.obolibrary.org/obo/MONDO_0019886	Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported.	ORPHA:96105|SNOMEDCT:764454003
MONDO:0017225	null syndrome	biolink:Disease	mondo	UMLS:CN202707|Orphanet:280234|ICD10:E75.2	ordo_clinical_subtype	PLP1 null syndrome|Pelizaeus-Merzbacher disease, null syndrome	http://purl.obolibrary.org/obo/MONDO_0017225	The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy.	ORPHA:280234|UMLS:CN202707
MONDO:0019881	distal trisomy 6q	biolink:Disease	mondo	ICD10:Q92.3|SCTID:763275001|MESH:C537810|Orphanet:96098	ordo_malformation_syndrome	telomeric duplication 6q|distal duplication 6q|distal trisomy type 6q|trisomy 6qter	http://purl.obolibrary.org/obo/MONDO_0019881	Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported.	SNOMEDCT:763275001|MESH:C537810|ORPHA:96098
MONDO:0019880	distal trisomy 5q	biolink:Disease	mondo	SCTID:763274002|ICD10:Q92.3|Orphanet:96097	ordo_malformation_syndrome	telomeric duplication 5q|distal trisomy type 5q|distal duplication 5q|trisomy 5qter	http://purl.obolibrary.org/obo/MONDO_0019880	Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism).	SNOMEDCT:763274002|ORPHA:96097
MONDO:0019883	distal trisomy 9q	biolink:Disease	mondo	ICD10:Q92.3|SCTID:764520001|Orphanet:96101	ordo_malformation_syndrome	distal trisomy type 9q|trisomy 9qter|telomeric duplication 9q|distal duplication 9q	http://purl.obolibrary.org/obo/MONDO_0019883	Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed.	ORPHA:96101|SNOMEDCT:764520001
MONDO:0017220	laryngotracheoesophageal cleft type 0	biolink:Disease	mondo	UMLS:CN202702|ICD10:Q32.1|Orphanet:280205	ordo_clinical_subtype	laryngo-tracheo-esophageal cleft type 0|LTEC0	http://purl.obolibrary.org/obo/MONDO_0017220	Laryngo-tracheo-esophageal cleft (LC) type 0 is a congenital respiratory tract anomaly characterized by a submucosal laryngo-tracheo-esophageal cleft with minor symptoms or an asymptomatic course.	UMLS:CN202702|ORPHA:280205
MONDO:0017221	Pelizaeus-Merzbacher disease, connatal form	biolink:Disease	mondo	UMLS:CN202703|ICD10:E75.2|Orphanet:280210	ordo_clinical_subtype	connatal PMD|severe PMD|Pelizaeus-Merzbacher disease type II	http://purl.obolibrary.org/obo/MONDO_0017221	The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD.	UMLS:CN202703|ORPHA:280210
MONDO:0019882	distal trisomy 8q	biolink:Disease	mondo	ICD10:Q92.3|Orphanet:96100|SCTID:763277009	ordo_malformation_syndrome	trisomy 8qter|telomeric duplication 8q|distal duplication 8q|distal trisomy type 8q	http://purl.obolibrary.org/obo/MONDO_0019882	Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures).	SNOMEDCT:763277009|ORPHA:96100
MONDO:0032805	hypopigmentation, organomegaly, and delayed myelination and development	biolink:Disease	mondo	OMIM:618541		HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT; HOD	http://purl.obolibrary.org/obo/MONDO_0032805		http://identifiers.org/omim/618541
MONDO:0032806	trichothiodystrophy 7, nonphotosensitive	biolink:Disease	mondo	OMIM:618546		TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE; TTD7	http://purl.obolibrary.org/obo/MONDO_0032806		http://identifiers.org/omim/618546
HP:0100502	Vitamin B12 deficiency	biolink:PhenotypicFeature	mondo	MSH:D014806|UMLS:C0042847|SNOMEDCT_US:190634004		Vitamin B12 deficiency	http://purl.obolibrary.org/obo/HP_0100502		
MONDO:0005229	bacterial infectious disease with sepsis	biolink:Disease	mondo	SCTID:5758002|ICD9:790.7|EFO:0003033|MESH:D016470|DOID:0040085|UMLS:C0004610|Wikipedia:Bacteremia		Bacteremias|bacterial sepsis|symptomatic bacteremia|bacteremia	http://purl.obolibrary.org/obo/MONDO_0005229	An infectious disease caused by bacteria causing sepsis.	NCIT:C102993|DOID:0040085|MESH:D016470|UMLS:C0004610|SNOMEDCT:5758002
MONDO:0032803	immunodeficiency 64	biolink:Disease	mondo	OMIM:618534		IMMUNODEFICIENCY 64; IMD64	http://purl.obolibrary.org/obo/MONDO_0032803		http://identifiers.org/omim/618534
MONDO:0032804	ectodermal dysplasia 15, hypohidrotic/hair type	biolink:Disease	mondo	OMIM:618535|DOID:0111651		ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE; ECTD15	http://purl.obolibrary.org/obo/MONDO_0032804		DOID:0111651|http://identifiers.org/omim/618535
MONDO:0032801	erythrokeratodermia variabilis et progressiva 6	biolink:Disease	mondo	OMIM:618531		ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6; EKVP6	http://purl.obolibrary.org/obo/MONDO_0032801		http://identifiers.org/omim/618531
MF:0000075	mental quality	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/MF_0000075	A mental quality is a bodily quality that inheres in those structures of the extended organism that are essential for mental functioning.	
MONDO:0007889	lentigines	biolink:Disease	mondo	MESH:D007911|OMIM:150900		lentigines	http://purl.obolibrary.org/obo/MONDO_0007889	Small circumscribed melanoses resembling, but differing histologically from, freckles. The concept includes senile lentigo ('liver spots') and nevoid lentigo (nevus spilus, lentigo simplex) and may also occur in association with multiple congenital defects or congenital syndromes (e.g., Peutz-Jeghers syndrome).	MESH:D007911|http://identifiers.org/omim/150900
MONDO:0005226	obsolete acute basophilic leukemia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005226		
MONDO:0032802	deafness, autosomal dominant 37	biolink:Disease	mondo	OMIM:618533		DEAFNESS, AUTOSOMAL DOMINANT 37; DFNA37	http://purl.obolibrary.org/obo/MONDO_0032802		http://identifiers.org/omim/618533
MF:0000076	intentional modality	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/MF_0000076	A structural capacity that shapes how an object of intentionality is represented for the subject.	
MONDO:0005225	obsolete acute myeloblastic leukemia with maturation	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005225		
MONDO:0007887	leiomyoma of vulva and esophagus	biolink:Disease	mondo	GARD:0010097|UMLS:C1835488|MESH:C537006|OMIM:150700	gard_rare	leiomyomatosis, esophagogastric and vulvar|leiomyoma of vulva and esophagus|esophagogastric and vulvar leiomyomatosis	http://purl.obolibrary.org/obo/MONDO_0007887		http://identifiers.org/omim/150700|UMLS:C1835488|MESH:C537006
MONDO:0005228	obsolete anaplastic large cell lymphoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005228		
MONDO:0005227	abscess	biolink:Disease	mondo	COHD:444202|ICD9:682.9|ICD9:682.8|EFO:0003030|Wikipedia:Abscess|MESH:D000038|UMLS:C0000833|SCTID:128477000|NCIT:C26686			http://purl.obolibrary.org/obo/MONDO_0005227	An inflammatory process characterized by the accumulation of pus within a newly formed tissue cavity which is the result of a bacterial, fungal, or parasitic infection or the presence of a foreign body.	SNOMEDCT:128477000|NCIT:C26686|MESH:D000038|UMLS:C0000833
MONDO:0007888	hereditary leiomyomatosis and renal cell cancer	biolink:Disease	mondo	NCIT:C51302|Orphanet:523|UMLS:CN239164|GARD:0010096|ICD10:C64|GARD:0003218|MESH:C535516|UMLS:CN073087|OMIM:150800|UMLS:C1708350	ordo_disease|gard_rare	leiomyoma, multiple cutaneous|hereditary multiple cutaneous leiomyomas|HLRCC|leiomyomatosis and renal cell cancer, hereditary|hereditary leiomyomatosis|multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma|LRCC|leiomyomatosis familial|multiple cutaneous leiomyomata|MCUL|hereditary leiomyomatosis with renal carcinoma|multiple cutaneous and uterine leiomyomas|hereditary leiomyomatosis and renal cell cancer syndrome|hereditary leiomyomatosis and renal cell cancer; HLRCC|familial leiomyomatosis|multiple cutaneous and uterine leiomyomata|hereditary leiomyomatosis and renal cell carcinoma|familial leiomyomatosis and renal cell cancer|hereditary leiomyomatosis and renal cell cancer|familial leiomyomatosis cutis et uteri|familial multiple cutaneous leiomyomas|Reed's syndrome|familial leiomyomatosis with renal carcinoma|Reed syndrome	http://purl.obolibrary.org/obo/MONDO_0007888	Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer.	http://identifiers.org/omim/150800|UMLS:CN239164|UMLS:C1708350|UMLS:CN073087|NCIT:C51302|ORPHA:523|MESH:C535516
MONDO:0032800	robinow syndrome, autosomal recessive 2	biolink:Disease	mondo	OMIM:618529		ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2; RRS2	http://purl.obolibrary.org/obo/MONDO_0032800		http://identifiers.org/omim/618529
MONDO:0007885	Legg-Calve-Perthes disease	biolink:Disease	mondo	MedDRA:10034735|UMLS:C0023234|GARD:0006874|ICD10:M91.3|ICD10:M91.2|DOID:14415|NCIT:C34766|EFO:0007341|Orphanet:2380|ICD10:M91.1|SCTID:15739006|MESH:D007873|OMIM:150600	gard_rare|ordo_disease	osteochondritis of the capital femoral epiphysis|Calve - Perthes' disease|aseptic necrosis of the capital femoral epiphysis|osteochondrosis of Legg-Calve-Perthes|Pseudocoxalgia|juvenile osteochondrosis of hip and pelvis|Lcp|Perthes disease|Legg-CALVE-Perthes disease; LCPD|Legg-Perthes disease|Legg-Calve-Perthes syndrome|Osteochondrosis of the capital femoral epiphysis|Legg-Calve-Perthes disease|Legg-Calve-Perthes symptom|juvenile osteochond-hip/pelvis|osteochondritis deformans|Perthe's disease|coxa plana|LCPD|juvenile osteochondrosis of hip and/or pelvis|pseudocoxalgia|Legg-Calvé-Perthes disease	http://purl.obolibrary.org/obo/MONDO_0007885	Legg-Calve-Perthes disease (LCPD) is the term used to describe uni- or bilateral avascular necrosis (AVN) of the femoral head in children.	http://identifiers.org/omim/150600|ORPHA:2380|DOID:14415|NCIT:C34766|MEDDRA:10034735|SNOMEDCT:15739006|UMLS:C0023234|MESH:D007873
MONDO:0020863	laryngeal diphtheria	biolink:Disease	mondo	SCTID:50215002|NCIT:C34546|UMLS:C0012557|ICD9:032.3		laryngeal diphtheria|Diphtheritic laryngotracheitis|Laryngeal Diphtheria|diphtheritic laryngotracheitis|Laryngeal diphtheria	http://purl.obolibrary.org/obo/MONDO_0020863	Infection of the larynx by Corynebacterium diphtheriae.	SNOMEDCT:50215002|NCIT:C34546|UMLS:C0012557
MONDO:0005222	obsolete acute megakaryoblastic leukaemia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005222		
MONDO:0007886	uterine corpus leiomyoma	biolink:Disease	mondo	ICD10:D25|UMLS:C2242776|OMIM:150699|ICD10:D25.9|UMLS:C0042133|HP:0000131|ICD9:218|SCTID:95315005|COHD:197236|ICD9:218.9|DOID:13223|EFO:0000731|ONCOTREE:ULM|NCIT:C3434		leiomyoma of uterine corpus|leiomyoma of the corpus uteri|uterine body fibroid|fibroid of corpus uteri|fibroid of body of uterus|leiomyoma of the body of uterus|body of uterus leiomyoma|fibroid of uterine corpus|leiomyoma of the uterine corpus|UL|plexiform leiomyoma|fibroid of the body of uterus|fibroid of the corpus uteri|fibroid of the uterine corpus|uterine leiomyoma|leiomyoma of uterine body|leiomyoma of the uterine body|fibroid of uterine body|leiomyoma of corpus uteri|fibroid of the uterine body|corpus uteri leiomyoma|body of uterus fibroid|uterine corpus leiomyoma|corpus uteri fibroid|uterine corpus fibroid|uterine fibroid|leiomyoma, uterine; UL|uterine corpus leiomyomata|leiomyoma, uterine|uterus fibroma|uterine body leiomyoma|leiomyoma of body of uterus	http://purl.obolibrary.org/obo/MONDO_0007886	A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	http://identifiers.org/omim/150699|NCIT:C3434|SNOMEDCT:95315005|UMLS:C0042133|UMLS:C2242776|DOID:13223
MONDO:0005221	renal pelvis urothelial carcinoma	biolink:Disease	mondo	UMLS:C0238410|NCIT:C7355|DOID:5974|ICD9:189.0|SCTID:408642003|EFO:0003017		transitional cell carcinoma of renal pelvis|renal pelvis urothelial cancer|transitional cell carcinoma of the renal pelvis|renal pelvis transitional cell carcinoma|urothelial cell carcinoma of the renal pelvis|urothelial cell carcinoma of renal pelvis|renal pelvis urothelial carcinoma|kidney renal pelvis urothelial cancer	http://purl.obolibrary.org/obo/MONDO_0005221	A carcinoma that arises from the transitional epithelium of the renal pelvis. It is associated with tobacco use and usually presents with gross or microscopic hematuria. Urothelial carcinomas of the renal pelvis are usually of higher grade and higher stage compared to bladder urothelial carcinomas.	UMLS:C0238410|SNOMEDCT:408642003|DOID:5974|NCIT:C7355
MONDO:0005224	acute myeloblastic leukemia without maturation	biolink:Disease	mondo	NCIT:C3249|SCTID:359640008|ICDO:9873/3|GARD:0000526|ICD10:C92.0|EFO:0003027|Orphanet:98833|ONCOTREE:AWM	gard_rare|ordo_disease	acute M1 myeloid leukemia|acute myeloid leukemia without maturation (FAB M1)|acute granulocytic leukemia without maturation|M1 acute myelocytic leukemia without maturation|M1 acute myelogenous leukemia without maturation|M1 acute myeloblastic leukemia|M1 acute granulocytic leukemia without maturation|M1 acute myeloid leukemia without maturation|M1 acute myeloid leukemia|AML without maturation|M1 acute myeloblastic leukemia without maturation|M1 acute granulocytic leukemia|acute myelogenous leukemia without maturation|M1 acute myelogenous leukemia|acute myeloblastic leukemia M1|AWM|FAB M1|acute myeloblastic leukemia type 1|acute myeloid leukemia without maturation|AML M1|M1 acute myelocytic leukemia|acute myelocytic leukemia without maturation	http://purl.obolibrary.org/obo/MONDO_0005224	An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils. (WHO, 2001)	NCIT:C3249|SNOMEDCT:359640008|ORPHA:98833
MONDO:0007883	lazy leukocyte syndrome	biolink:Disease	mondo	OMIM:150550|MESH:C562721|UMLS:C0272174|SCTID:71436005|ICD9:288.09		lazy leukocyte syndrome	http://purl.obolibrary.org/obo/MONDO_0007883		http://identifiers.org/omim/150550|MESH:C562721|UMLS:C0272174|SNOMEDCT:71436005
MF:0000073	intentionality	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/MF_0000073	Intentionality is the fundamental quality of conscious mental processes of always having content, of being directed towards, or about something.	
MONDO:0007884	leg ulcers, familial, of juvenile onset	biolink:Disease	mondo	MESH:C563632|OMIM:150590|UMLS:C1835489		leg ulcers, familial, of juvenile onset	http://purl.obolibrary.org/obo/MONDO_0007884		MESH:C563632|http://identifiers.org/omim/150590|UMLS:C1835489
MONDO:0020860	faucial diphtheria	biolink:Disease	mondo	ICD9:032.0|SCTID:3419005|NCIT:C34545|UMLS:C0012556		faucial diphtheria|Diphtheritic membrane|Faucial Diphtheria|diphtheritic membrane|Faucial diphtheria|Diphtheritic membranous angina|diphtheritic membranous angina	http://purl.obolibrary.org/obo/MONDO_0020860	Infection of the fauces by Corynebacterium diphtheriae.	NCIT:C34545|SNOMEDCT:3419005|UMLS:C0012556
MONDO:0005223	acute myeloid leukemia with minimal differentiation	biolink:Disease	mondo	ICDO:9872/3|ICD10:C92.0|UMLS:C0522631|ONCOTREE:AMLMD|Orphanet:98832|EFO:0003026|NCIT:C8460	ordo_disease	acute myeloid leukemia with minimal differentiation|acute myeloid leukemia with minimal differentiation (MO)|M0 myeloid leukemia with minimal differentiation|acute myelocytic leukemia with minimal differentiation|M0 myeloid leukemia|acute myeloblastic leukemia, minimally differentiated|M0 acute myeloblastic leukemia|AMLMD|M0 acute myelogenous leukemia|acute myeloblastic leukemia with minimal differentiation|M0 acute granulocytic leukemia with minimal differentiation|M0 acute granulocytic leukemia|M0 acute myelogenous leukemia with minimal differentiation|AML M0|acute myeloid leukemia, minimally differentiated|AML with minimal differentiation|minimally differentiated acute myeloblastic leukemia|acute myelogenous leukemia with minimal differentiation|M0 acute myelocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0005223	An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (WHO, 2001)	UMLS:C0522631|ORPHA:98832|NCIT:C8460
MF:0000074	bodily quality	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/MF_0000074	A bodily quality is a quality that inheres in some extended organism.	
MONDO:0007881	tooth agenesis, selective, 4	biolink:Disease	mondo	MESH:C563634|OMIM:150400		STHAG4|tooth agenesis, selective, 4, with or without ectodermal dysplasia|WNT10A tooth agenesis|tooth agenesis, selective, 4|tooth agenesis, selective, 4; STHAG4|tooth agenesis, selective, type 4|tooth agenesis caused by mutation in WNT10A|lateral incisors, pegged or missing|lateral incisors, absence of|succedaneous teeth, agenesis of	http://purl.obolibrary.org/obo/MONDO_0007881	Any tooth agenesis in which the cause of the disease is a mutation in the WNT10A gene.	http://identifiers.org/omim/150400|MESH:C563634
MONDO:0032809	hepatitis, fulminant viral, susceptibility to	biolink:Disease	mondo	OMIM:618549		HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH	http://purl.obolibrary.org/obo/MONDO_0032809		http://identifiers.org/omim/618549
FOODON:00001173	plant seed food product	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00001173		
MONDO:0007882	lattice degeneration of retina leading to retinal detachment	biolink:Disease	mondo	MESH:C563633|UMLS:C1835491|OMIM:150500		lattice degeneration of retina leading to retinal detachment	http://purl.obolibrary.org/obo/MONDO_0007882		http://identifiers.org/omim/150500|UMLS:C1835491|MESH:C563633
MONDO:0005220	collecting duct carcinoma	biolink:Disease	mondo	ICD10:C64|ONCOTREE:CDRCC|GARD:0009573|UMLS:C1266044|NCIT:C6194|DOID:4464|EFO:0003016|ICDO:8319/3|Orphanet:247203	ordo_disease	carcinoma of the collecting ducts of Bellini|carcinoma of collecting ducts of Bellini|renal carcinoma, collecting duct type|Bellini’s duct carcinoma|kidney collecting duct carcinoma|Bellini duct carcinoma|carcinoma of renal collecting duct|collecting duct renal cell carcinoma|collecting duct renal cancer|renal collecting duct carcinoma|cDC|carcinoma of kidney collecting duct|collecting duct carcinoma of the kidney|carcinoma of the kidney collecting duct|renal medullary carcinoma|Bellini carcinoma|carcinoma of collecting duct of renal tubule|BDC|collecting duct of renal tubule carcinoma|carcinoma of the renal collecting duct|collecting duct carcinoma	http://purl.obolibrary.org/obo/MONDO_0005220	A carcinoma that arises from epithelial cells of the collecting duct of renal tubule	ORPHA:247203|UMLS:C1266044|DOID:4464|NCIT:C6194
MONDO:0032807	neurodevelopmental disorder with visual defects and brain anomalies	biolink:Disease	mondo	OMIM:618547		NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA	http://purl.obolibrary.org/obo/MONDO_0032807		http://identifiers.org/omim/618547
MONDO:0007880	congenital laryngeal web	biolink:Disease	mondo	OMIM:150360|MESH:C563636|MedDRA:10023871|NCIT:C98970|SCTID:444921008|Orphanet:2374|GARD:0002446|ICD10:Q31.0|MESH:C537676	gard_rare|ordo_malformation_syndrome	gay Feinmesser Cohen syndrome|Laryngeal web|laryngeal web, familial|laryngeal web, congenital heart disease and low stature|subglottic web|glottic web, congenital anterior|subglottic Bar|subglottic bar, congenital heart disease and low stature	http://purl.obolibrary.org/obo/MONDO_0007880	Congenital laryngeal web is a rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.	NCIT:C98970|UMLS:C0152416|ORPHA:2374|MESH:C537676|MEDDRA:10023871|SNOMEDCT:444921008|http://identifiers.org/omim/150360|MESH:C563636
MONDO:0032808	developmental and epileptic encephalopathy, 77	biolink:Disease	mondo	OMIM:618548		glycosylphosphatidylinositol biosynthesis defect 19|epileptic encephalopathy, early infantile, 77|multiple congenital anomalies-hypotonia-seizures syndrome 4|EIEE77|DEE77	http://purl.obolibrary.org/obo/MONDO_0032808		http://identifiers.org/omim/618548
FOODON:00001172	nut food product	biolink:OntologyClass	mondo	SUBSET_SIREN:F16972			http://purl.obolibrary.org/obo/FOODON_00001172		
MONDO:0017219	microform holoprosencephaly	biolink:Disease	mondo	UMLS:CN236719|Orphanet:280200|UMLS:CN202701|DOID:0111380|ICD10:Q04.2	ordo_malformation_syndrome	Microform HPE|HoloprosencC)phalie, minor form|Holoprosencéphalie, minor form|HPE, minor form|HPE-L|holoprosencephaly-like	http://purl.obolibrary.org/obo/MONDO_0017219	Microform holoprosencephaly is a benign form of holoprosencephaly (HPE) characterized by midline defects without the typical HPE defect in brain cleavage.	UMLS:CN236719|ORPHA:280200|UMLS:CN202701|DOID:0111380
MONDO:0020858	mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5	biolink:Disease	mondo	OMIM:618120		MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5; MC5DN5|Mitochondrial Complex 5 (ATP Synthase) Deficiency, ATP5F1D Type|MC5DN5	http://purl.obolibrary.org/obo/MONDO_0020858		http://identifiers.org/omim/618120
MONDO:0020857	ovarian dysgenesis 7	biolink:Disease	mondo	DOID:0080499|OMIM:618117		ODG7|OVARIAN DYSGENESIS 7; ODG7	http://purl.obolibrary.org/obo/MONDO_0020857		DOID:0080499|http://identifiers.org/omim/618117
FOODON:00001176	invertebrate animal food product	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00001176		
MONDO:0020856	bone marrow failure syndrome 4	biolink:Disease	mondo	OMIM:618116		BMFS4|BONE MARROW FAILURE SYNDROME 4; BMFS4	http://purl.obolibrary.org/obo/MONDO_0020856		http://identifiers.org/omim/618116
MONDO:0017215	calciphylaxis	biolink:Disease	mondo	ICD10:E83.5|MESH:D002115|UMLS:C0006666|NCIT:C84607|ICD9:275.49|GARD:0005980|SCTID:237900002|DOID:4734|MedDRA:10051714|Orphanet:280062	gard_rare|ordo_disease	idiopathic calciphylaxis	http://purl.obolibrary.org/obo/MONDO_0017215	Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs. The lack of blood flow (ischemia) damages healthy tissue and causes itto die (necrosis). The most obvious and frequent symptom of calciphylaxis is damage to the skin, as ulcers can developand become infected easily. Calciphylaxis can also affect fat tissue, internal organs, and skeletal muscle, causing infections, pain, and organ failure.These symptoms are often irreversible, and many individuals with calciphylaxis may not survive more thana few months after they are diagnosed due to infection that spreads throughout the body (sepsis), or organ failure. The exact cause of calciphylaxis is unknown. Treatments may include medications to reduce pain, antibiotics to treat infections, and various approaches to preventing the development or worsening of this condition.	ORPHA:280062|UMLS:C0006666|NCIT:C84607|SNOMEDCT:237900002|MESH:D002115|DOID:4734|MEDDRA:10051714
MONDO:0019878	3q26 microduplication syndrome	biolink:Disease	mondo	ICD10:Q92.3|Orphanet:96095|UMLS:CN206814	ordo_malformation_syndrome	dup(3q) syndrome|trisomy 3q26|Cornelia de Lange-like syndrome|dup(3)(q26)	http://purl.obolibrary.org/obo/MONDO_0019878	3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations.	UMLS:CN206814|ORPHA:96095
MONDO:0019877	distal trisomy 2q	biolink:Disease	mondo	ICD10:Q92.3|SCTID:763272003|Orphanet:96094	ordo_malformation_syndrome	trisomy 2qter|telomeric duplication 2q|distal trisomy type 2q|distal duplication 2q	http://purl.obolibrary.org/obo/MONDO_0019877	Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed.	ORPHA:96094|SNOMEDCT:763272003
MONDO:0017216	calciphylaxis cutis	biolink:Disease	mondo	ICD10:E83.5|SCTID:717043006|Orphanet:280065|UMLS:C4274083	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017216	Calciphylaxis cutis is a life-threatening syndrome characterized by progressive and painful skin ulcerations associated with media calcification of medium-size and small cutaneous arterial vessels. It affects mainly patients on dialysis or after renal transplantation.	ORPHA:280065|SNOMEDCT:717043006|UMLS:C4274083
MONDO:0020855	spermatogenic failure 32	biolink:Disease	mondo	OMIM:618115		spermatogenic failure 32; SPGF32|SPGF32	http://purl.obolibrary.org/obo/MONDO_0020855		http://identifiers.org/omim/618115
MONDO:0017217	visceral calciphylaxis	biolink:Disease	mondo	Orphanet:280068|ICD10:E83.5	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017217	Visceral calciphylaxis is a rare, life-threatening, non-inflammatory vasculopathy disorder characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually cause necrotic ulcerations of the tissue. Patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death, depending on the affected organ. The disease mainly affects patients on dialysis or patients having undergone renal transplantation.	ORPHA:280068
MONDO:0020854	Liddle syndrome 2	biolink:Disease	mondo	OMIM:618114		Liddle syndrome caused by mutation in SCNN1G|SCNN1G Liddle syndrome|LIDLS2|Liddle syndrome 2; LIDLS2	http://purl.obolibrary.org/obo/MONDO_0020854	Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1G gene.	http://identifiers.org/omim/618114
MONDO:0017218	septopreoptic holoprosencephaly	biolink:Disease	mondo	ICD10:Q04.2|UMLS:CN202699|Orphanet:280195	ordo_clinical_subtype	Septopreoptic HPE	http://purl.obolibrary.org/obo/MONDO_0017218	Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion.	ORPHA:280195|UMLS:CN202699
MONDO:0019879	distal trisomy 4q	biolink:Disease	mondo	ICD10:Q92.3|Orphanet:96096|SCTID:763273008	ordo_malformation_syndrome	trisomy 4qter|telomeric duplication 4q|distal trisomy type 4q|distal duplication 4q	http://purl.obolibrary.org/obo/MONDO_0019879	Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported.	ORPHA:96096|SNOMEDCT:763273008
MONDO:0020853	encephalitis/encephalopathy, mild, with reversible myelin vacuolization	biolink:Disease	mondo	OMIM:618113		MMERV|encephalitis/encephalopathy, mild, with reversible myelin vacuolization; MMERV|Encephalitis/encephalopathy, mild, with reversible splenial lesion	http://purl.obolibrary.org/obo/MONDO_0020853		http://identifiers.org/omim/618113
MONDO:0019874	distal trisomy 7p	biolink:Disease	mondo	ICD10:Q92.3|Orphanet:96074|SCTID:763276000	ordo_malformation_syndrome	trisomy 7pter|telomeric duplication 7p|distal duplication 7p|distal trisomy type 7p	http://purl.obolibrary.org/obo/MONDO_0019874	Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported.	SNOMEDCT:763276000|ORPHA:96074
MONDO:0017211	infectious panuveitis	biolink:Disease	mondo	Orphanet:279925|ICD10:H44.1	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017211		ORPHA:279925
MONDO:0017212	paraneoplastic uveitis	biolink:Disease	mondo	Orphanet:279928	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017212		ORPHA:279928
MONDO:0019873	4p16.3 microduplication syndrome	biolink:Disease	mondo	UMLS:CN206808|SCTID:726706008|Orphanet:96072|UMLS:C4512053|ICD10:Q92.3	ordo_malformation_syndrome	telomeric duplication 4p|distal duplication 4p|distal trisomy 4p|trisomy 4pter	http://purl.obolibrary.org/obo/MONDO_0019873	4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported.	SNOMEDCT:726706008|ORPHA:96072|UMLS:C4512053|UMLS:CN206808
MONDO:0017213	postorgasmic illness syndrome	biolink:Disease	mondo	UMLS:CN202682|Orphanet:279947|GARD:0010809	gard_rare|ordo_clinical_syndrome	POIS|post orgasmic sick syndrome	http://purl.obolibrary.org/obo/MONDO_0017213	Postorgasmic illness syndrome (POIS) is a rare condition in which a man develops flu-like symptoms after ejaculation (when semen is released from the penis). Specific symptoms can include extreme fatigue, weakness, feverishness or sweating, mood changes or irritability, memory or concentration problems, and/or a stuffy nose or itching eyes. Symptoms may occur within seconds, minutes, or a few hours after ejaculation. Most symptoms last for 2 to 7 days and go away on their own. The underlying cause of POIS is poorly understood. Some scientists believe it may be due to a semen allergy that causes an immediate hypersensitivity reaction. There is no standard treatment for POIS, but some men have been treated with SSRIs, antihistamines, and/or benzodiazepines. Hyposensitization therapy (decreasing the immune response by exposure to semen) reportedly improved symptoms in two men with POIS.	UMLS:CN202682|ORPHA:279947
MONDO:0019876	8p inverted duplication/deletion syndrome	biolink:Disease	mondo	ICD10:Q99.8|SCTID:718188007|Orphanet:96092|UMLS:CN206812	ordo_malformation_syndrome	Invdupdel(8p)|inverted 8p duplication/deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0019876	8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum.	UMLS:CN206812|SNOMEDCT:718188007|ORPHA:96092
MONDO:0019875	Beckwith-Wiedemann syndrome due to 11p15 microduplication	biolink:Disease	mondo	Orphanet:96076|UMLS:CN206810|ICD10:Q87.3	ordo_etiological_subtype		http://purl.obolibrary.org/obo/MONDO_0019875		UMLS:CN206810|ORPHA:96076
MONDO:0017214	vitamin B12-responsive methylmalonic acidemia	biolink:Disease	mondo	ICD10:E71.1|Orphanet:28|SCTID:69614003|GARD:0012623	ordo_disease|gard_rare	adenosylcobalamin deficiency|vitamin B12-responsive methylmalonic aciduria	http://purl.obolibrary.org/obo/MONDO_0017214	Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2).	ORPHA:28|SNOMEDCT:69614003
HP:0100508	Abnormality of vitamin metabolism	biolink:PhenotypicFeature	mondo	UMLS:C4022036		Abnormality of vitamin metabolism	http://purl.obolibrary.org/obo/HP_0100508	An anomaly in the metabolism of a vitamin.	
MONDO:0019870	distal trisomy 1p36	biolink:Disease	mondo	ICD10:Q92.3|UMLS:CN244049|Orphanet:96069|SCTID:766053003	ordo_malformation_syndrome	distal trisomy type 1p36|trisomy 1pter|telomeric duplication 1p36|distal duplication 1p36	http://purl.obolibrary.org/obo/MONDO_0019870	Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported.	UMLS:CN244049|SNOMEDCT:766053003|ORPHA:96069
MONDO:0019872	distal trisomy 3p	biolink:Disease	mondo	Orphanet:96071|SCTID:764519007|ICD10:Q92.3	ordo_malformation_syndrome	telomeric duplication 3p|distal duplication 3p|distal trisomy type 3p|trisomy 3pter	http://purl.obolibrary.org/obo/MONDO_0019872	Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers.	SNOMEDCT:764519007|ORPHA:96071
MONDO:0019871	distal trisomy 2p	biolink:Disease	mondo	Orphanet:96070|ICD10:Q92.3|SCTID:764518004	ordo_malformation_syndrome	telomeric duplication 2p|distal duplication 2p|distal trisomy type 2p|trisomy 2pter	http://purl.obolibrary.org/obo/MONDO_0019871	Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies.	SNOMEDCT:764518004|ORPHA:96070
MONDO:0017210	infectious anterior uveitis	biolink:Disease	mondo	UMLS:C0154911|DOID:9389|COHD:440716|ICD10:H20.2|ICD10:H20.1|ICD10:H20.0|Orphanet:279922|ICD10:H20.03|ICD10:H20.9|ICD9:364.03|ICD10:H20.8|SCTID:193487008	clingen|ordo_disease	secondary iridocyclitis, infectious|secondary infected iridocyclitis|infectious secondary iridocyclitis	http://purl.obolibrary.org/obo/MONDO_0017210	An infectious disease involving a pathogenic inflammatory response in the anterior uvea.	DOID:9389|UMLS:C0154911|SNOMEDCT:193487008|ORPHA:279922
MONDO:0032816	neurodevelopmental disorder with ataxia, hypotonia, and microcephaly	biolink:Disease	mondo	OMIM:618569		NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM	http://purl.obolibrary.org/obo/MONDO_0032816		http://identifiers.org/omim/618569
HP:0100512	Low levels of vitamin D	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:34713006|UMLS:C0042870|MSH:D014808		Deficient in vitamin D|Vitamin D deficiency	http://purl.obolibrary.org/obo/HP_0100512	A reduced concentration of Vitamin D.	
MONDO:0032817	neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	biolink:Disease	mondo	OMIM:618571|DOID:0070346		NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF	http://purl.obolibrary.org/obo/MONDO_0032817		http://identifiers.org/omim/618571|DOID:0070346
MONDO:0032814	microangiopathy and leukoencephalopathy, pontine, autosomal dominant	biolink:Disease	mondo	OMIM:618564		MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT; PADMAL|Dementia, Hereditary Multi-Infarct, Swedish Type	http://purl.obolibrary.org/obo/MONDO_0032814		http://identifiers.org/omim/618564
UBERON:0016497	epicondyle of humerus	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0016497	A epicondyle that is part of a humerus.	
MONDO:0032815	mitochondrial DNA depletion syndrome 17	biolink:Disease	mondo	OMIM:618567		MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17	http://purl.obolibrary.org/obo/MONDO_0032815		http://identifiers.org/omim/618567
HP:0100511	Abnormality of vitamin D metabolism	biolink:PhenotypicFeature	mondo	UMLS:C4022035		Abnormality of vitamin D metabolism	http://purl.obolibrary.org/obo/HP_0100511		
MONDO:0032812	developmental and epileptic encephalopathy, 78	biolink:Disease	mondo	OMIM:618557		EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 78; EIEE78|epileptic encephalopathy, early infantile, 78|DEE78	http://purl.obolibrary.org/obo/MONDO_0032812		http://identifiers.org/omim/618557
MONDO:0005237	obsolete pleomorphic liposarcoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005237		
UBERON:0016491	vertebral centrum element	biolink:AnatomicalEntity	mondo			périchorde@fr|centre vertébral@fr|centrum of vertebra|centrum	http://purl.obolibrary.org/obo/UBERON_0016491	Skeletal element that functionally replaces the notochord[VSAP,modified].	
MONDO:0032813	developmental and epileptic encephalopathy, 79	biolink:Disease	mondo	OMIM:618559		EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 79; EIEE79|DEE79|epileptic encephalopathy, early infantile, 79	http://purl.obolibrary.org/obo/MONDO_0032813		http://identifiers.org/omim/618559
MONDO:0005236	xanthoma (disease)	biolink:Disease	mondo	HP:0001114|EFO:0003075|NCIT:C4071		xanthoma	http://purl.obolibrary.org/obo/MONDO_0005236	A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues.	NCIT:C4071
UBERON:0016490	auditory system	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0016490	is the sensory system for the sense of hearing.	
MONDO:0007898	leukocyte nuclear appendages, hereditary prevalence of	biolink:Disease	mondo	OMIM:151500|MESH:C563626|UMLS:C1835405		leukocyte nuclear appendages, hereditary prevalence of	http://purl.obolibrary.org/obo/MONDO_0007898		MESH:C563626|UMLS:C1835405|http://identifiers.org/omim/151500
MONDO:0032810	oocyte maturation defect 7	biolink:Disease	mondo	OMIM:618550		OOCYTE MATURATION DEFECT 7; OOMD7	http://purl.obolibrary.org/obo/MONDO_0032810		http://identifiers.org/omim/618550
MONDO:0005239	obsolete dedifferentiated liposarcoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005239		
MONDO:0007899	lichen sclerosus et atrophicus	biolink:Disease	mondo	NCIT:C26817|COHD:4119189|SCTID:25674000|GARD:0006905|MESH:D018459|OMIM:151590|ICD10:L90.0|UMLS:C0023652		lichen sclerosus|lichen sclerosis et atrophicus|lichen sclerosis|lichen SCLEROSUS ET ATROPHICUS; LSA|LSA|lichen sclerosus et atrophicus	http://purl.obolibrary.org/obo/MONDO_0007899	A chronic inflammatory process affecting the skin. It is characterized by the presence of white, indurated plaques, epidermal atrophy, and fibrosis of the upper dermis. It usually appears in the vulva and penis.	UMLS:C0023652|MESH:D018459|http://identifiers.org/omim/151590|NCIT:C26817|SNOMEDCT:25674000
MONDO:0005238	round cell liposarcoma	biolink:Disease	mondo	SCTID:404070007|EFO:0003084|ICD9:171.9|ICDO:8853/3|DOID:5692|NCIT:C4252|UMLS:C0334471		round cell liposarcoma|round cell liposarcoma (morphologic abnormality)|cellular myxoid liposarcoma	http://purl.obolibrary.org/obo/MONDO_0005238	A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma.	SNOMEDCT:404070007|NCIT:C4252|UMLS:C0334471|DOID:5692
MONDO:0032811	night blindness, congenital stationary, type1i	biolink:Disease	mondo	OMIM:618555		NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I; CSNB1I	http://purl.obolibrary.org/obo/MONDO_0032811		http://identifiers.org/omim/618555
MONDO:0007896	acute monocytic leukemia	biolink:Disease	mondo	OMIM:151380|ICDO:9891/3|Orphanet:514|MedDRA:10059439|NCIT:C4861|CSP:2004-2820|ONCOTREE:AMOL|SCTID:413441006|GARD:0000525|UMLS:C0023465|MedDRA:10000871|UMLS:C1318544|COHD:135768|DOID:8864|MESH:D007948|EFO:0000221|ICD9:206.0|ICD10:C92.7	gard_rare|ordo_disease	acute monocytic leukemia, morphology (morphologic abnormality)|acute monoblastic/monocytic leukemia|AML M5|acute monocytic leukemia without mention of remission|acute monocytic leukemia|AML-M5|acute monocytic leukemia, morphology|acute myeloblastic leukemia type 5|acute monoblastic leukemia and acute monocytic leukemia|monocytic leukemia|leukemia, monocytic, malignant|acute monocytic leukemia (FAB M5B)|acute monocytic leukemia (FAB M5b)|acute monoblastic leukemia|leukemia, acute monocytic|monocytic leukemia, acute|acute monocytic leukemia, FAB M5	http://purl.obolibrary.org/obo/MONDO_0007896	Acute monoblastic leukemia (AML-M5), is one of the most common subtypes of acute myeloid leukemia (AML) that is either comprised of more than 80% of monoblasts (AML-M5a) or 30-80% monoblasts with (pro)monocytic differentiation (AML-M5b). AML-M5 presents with asthenia, pallor, fever, and dizziness. Specific features of AML-M5 include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed in AML-M5 is t(9;11).	UMLS:C1318544|NCIT:C4861|DOID:8864|MEDDRA:10000871|ORPHA:514|SNOMEDCT:413441006|MEDDRA:10059439|UMLS:C0023465|http://identifiers.org/omim/151380|UMLS:C0457334|MESH:D007948
MONDO:0005233	non-small cell lung carcinoma (disease)	biolink:Disease	mondo	KEGG:05223|UMLS:C0007131|DOID:3908|EFO:0003060|ICD10:C34|HP:0030358|MESH:D002289|ONCOTREE:NSCLC|NCIT:C2926|SCTID:254637007		NSCLC|non-small cell lung carcinoma|NSCLC - non-small cell lung cancer|non-small cell carcinoma of lung|non-small cell lung cancer, NOS|non-small cell carcinoma of the lung|non-small cell lung cancer|non-small cell cancer of lung|non-small cell cancer of the lung|non small cell lung cancer NOS	http://purl.obolibrary.org/obo/MONDO_0005233	A group of at least three distinct histological types of lung cancer, including non-small cell squamous cell carcinoma, adenocarcinoma, and large cell carcinoma. Non-small cell lung carcinomas have a poor response to conventional chemotherapy.	MESH:D002289|SNOMEDCT:254637007|NCIT:C2926|UMLS:C0007131|DOID:3908
FOODON:00001180	prepared food product	biolink:OntologyClass	mondo			prepared	http://purl.obolibrary.org/obo/FOODON_00001180	Food product that is 1) ready or nearly ready for consumption; 2) usually a composite of several foods or ingredients that often belong to distinct product types; 3) usually formulated, mixed and partially or fully cooked.	
MONDO:0020852	spermatogenic failure 31	biolink:Disease	mondo	OMIM:618112		SPGF31|spermatogenic failure 31; SPGF31	http://purl.obolibrary.org/obo/MONDO_0020852		http://identifiers.org/omim/618112
MONDO:0020851	spermatogenic failure 30	biolink:Disease	mondo	OMIM:618110		SPGF30|spermatogenic failure 30; SPGF30	http://purl.obolibrary.org/obo/MONDO_0020851		http://identifiers.org/omim/618110
MONDO:0005232	large cell carcinoma	biolink:Disease	mondo	DOID:4552|UMLS:C0206704|NCIT:C3780|ICDO:8012/3|MESH:D018287		carcinoma, large cell|large cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005232	A malignant epithelial neoplasm composed of large, atypical cells.	NCIT:C3780|DOID:4552|UMLS:C0206704|MESH:D018287
MONDO:0007897	obsolete leukemia, chronic lymphocytic	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0007897		
MONDO:0007894	Leri pleonosteosis	biolink:Disease	mondo	UMLS:C1835450|Orphanet:2900|MESH:C537118|OMIM:151200|GARD:0000088|ICD10:Q68.8	ordo_malformation_syndrome|gard_rare	Leri's pleonosteosis|Leri type pleonosteosis|pleonosteosis Leri type|Leri pleonosteosis|chromosome 8q22.1 DUPLICATION syndrome	http://purl.obolibrary.org/obo/MONDO_0007894	Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner.	UMLS:C1835450|MESH:C537118|ORPHA:2900|UMLS:C0265311|http://identifiers.org/omim/151200
MONDO:0005235	smoldering plasma cell myeloma	biolink:Disease	mondo	EFO:0003073|DOID:9551|NCIT:C7149|SCTID:440422002		smoldering myeloma|smoldering Multiple myeloma/plasma cell myeloma|smoldering multiple myeloma|smoldering plasma cell myeloma|asymptomatic myeloma|asymptomatic plasma cell myeloma	http://purl.obolibrary.org/obo/MONDO_0005235	A plasma cell myeloma lacking clinical manifestations and organ impairment.	DOID:9551|SNOMEDCT:440422002|NCIT:C7149
MONDO:0020850	intellectual disability, autosomal recessive 65	biolink:Disease	mondo	OMIM:618109		MRT65|mental retardation, autosomal recessive 65; MRT65|intellectual disability, autosomal recessive 65; MRT65	http://purl.obolibrary.org/obo/MONDO_0020850		http://identifiers.org/omim/618109
MONDO:0007895	platyspondylic dysplasia, Torrance type	biolink:Disease	mondo	OMIM:151210|MESH:C563627|DOID:0111508|ICD10:Q77.8|GARD:0004382|Orphanet:85166|UMLS:C1835437	ordo_malformation_syndrome	thanatophoric dysplasia, Torrance variant|thanatophoric dysplasia, Luton variant|Platyspondylic lethal skeletal dysplasia, Torrance type; PLSDT|PLSD-T|Platyspondylic lethal skeletal dysplasia, Luton type|PLSDT|Platyspondylic lethal skeletal dysplasia Torrance type|lethal short-limbed Platyspondylic dwarfism Torrance type|Platyspondylic dysplasia, Torrance-Luton type|Platyspondylic lethal skeletal dysplasia, Torrance type|thanatophoric dysplasia Torrance variant|lethal short-limbed Platyspondylic dwarfism, Torrance type	http://purl.obolibrary.org/obo/MONDO_0007895		UMLS:C1835437|ORPHA:85166|DOID:0111508|http://identifiers.org/omim/151210|MESH:C563627
MONDO:0005234	obsolete polymyositis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005234		
MONDO:0007892	Lenz-Majewski hyperostotic dwarfism	biolink:Disease	mondo	OMIM:151050|MESH:C537115|DOID:0111507|ICD10:Q87.1|Orphanet:2658|GARD:0003223	ordo_malformation_syndrome|gard_rare	Lenz-Majewski hyperostotic dwarfism; LMHD|Lenz-Majewski syndrome|hyperostotic dwarfism Lenz-Majewski type|multiple congenital anomalies, intellectual disability and progressive skeletal sclerosis|LMHD|Lenz-Majewski hyperostotic dwarfism|multiple congenital anomalies, mental retardation and progressive skeletal sclerosis|Lenz-Majewski hyperostotic dysplasia|Lenz Majewski hyperostotic dwarfism	http://purl.obolibrary.org/obo/MONDO_0007892	Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.	MESH:C537115|ORPHA:2658|DOID:0111507|UMLS:C0432269|http://identifiers.org/omim/151050
FOODON:00001184	algal food product	biolink:OntologyClass	mondo	SUBSET_SIREN:F10419	"subset_siren"		http://purl.obolibrary.org/obo/FOODON_00001184	This food product type includes food products which are derived from a large, diverse group of photosynthetic organisms.	
MONDO:0007893	Noonan syndrome with multiple lentigines	biolink:Disease	mondo	ICD10:Q87.1|MESH:D044542|UMLS:CN074218|OMIMPS:151100|GARD:0001100|Orphanet:500|UMLS:C0175704|MedDRA:10062901|NCIT:C84820|DOID:14291|ICD9:709.09|SCTID:111306001	clingen|ordo_malformation_syndrome	progressive cardiomyopathic lentiginosis|generalized lentiginosis|lentiginosis profusa syndrome|Gorlin syndrome II|Moynahan syndrome|LEOPARD syndrome|lentigines, electrocardiographic conduction defects, 0cular hypertelorism, pulmonary stenosis, abnormalities of the genitals, retarded Growth, deafness|Cardiomyopathic lentiginosis|cardiocutaneous syndrome|familial multiple lentigines syndrome|lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, Deafnes|Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome	http://purl.obolibrary.org/obo/MONDO_0007893	Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.	NCIT:C84820|MESH:D044542|UMLS:CN074218|MESH:C537116|SNOMEDCT:111306001|UMLS:C0175704|DOID:14291|ORPHA:500|MEDDRA:10062901|UMLS:C2931424
MONDO:0005231	hepatitis C virus infection	biolink:Disease	mondo	MESH:D006526|ICD10:B19.2|SCTID:128302006|NCIT:C3098|EFO:0003047|ICD9:070.7|UMLS:C0019196|DOID:1883|ICD10:B19.20|ICD9:070.54|ICD9:070.41		hepatitis type C|NANBH|Hepatitis C virus hepatitis|chronic hepatitis C|non-A, non-B Hepatitis|hepatitis Nona nonB|viral hepatitis C|hepatitis C infection|Hepatitis C virus caused hepatitis	http://purl.obolibrary.org/obo/MONDO_0005231	A viral infection caused by the hepatitis C virus.	DOID:1883|NCIT:C3098|UMLS:C0019196|SNOMEDCT:128302006|MESH:D006526
MONDO:0007890	lentiginosis, centrofacial neurodysraphic	biolink:Disease	mondo	OMIM:151000|MESH:C563630|UMLS:C1835484		lentiginosis, centrofacial neurodysraphic|lentiginosis, Touraine type	http://purl.obolibrary.org/obo/MONDO_0007890		http://identifiers.org/omim/151000|MESH:C563630|UMLS:C1835484
MONDO:0032818	neurodevelopmental disorder with cerebellar hypoplasia and spasticity	biolink:Disease	mondo	OMIM:618572		NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS	http://purl.obolibrary.org/obo/MONDO_0032818		http://identifiers.org/omim/618572
MONDO:0005230	cellulitis (disease)	biolink:Disease	mondo	ICD10:L03.90|DOID:3488|MESH:D002481|Wikipedia:Cellulitis|SCTID:128045006|HP:0100658|COHD:435613|EFO:0003035|NCIT:C26715|ICD9:682.9|ICD9:682.8		cellulitis	http://purl.obolibrary.org/obo/MONDO_0005230	Inflammation of the dermis and subcutaneous tissues caused by a bacterial infection. Symptoms include erythema, edema, and pain to the affected area.	NCIT:C26715|MESH:D002481|SNOMEDCT:128045006|DOID:3488
MONDO:0007891	familial generalized lentiginosis	biolink:Disease	mondo	ICD10:L81.4|UMLS:CN201466|UMLS:C3492944|MESH:C573023|Orphanet:231040|OMIM:151001|SCTID:765195000	ordo_disease	lentiginosis, inherited patterned|lentiginosis, generalized|lentiginosis, diffuse|familial lentigines profusa|familial multiple lentigines syndrome without systemic involvement|lentiginosis profusa	http://purl.obolibrary.org/obo/MONDO_0007891	Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa.	ORPHA:231040|UMLS:CN201466|http://identifiers.org/omim/151001|SNOMEDCT:765195000|UMLS:C3492944|MESH:C573023
MONDO:0032819	hypothyroidism, congenital, nongoitrous, 7	biolink:Disease	mondo	OMIM:618573		Thyrotropin-Releasing Hormone Resistance, Generalized|HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7; CHNG7	http://purl.obolibrary.org/obo/MONDO_0032819		http://identifiers.org/omim/618573
MONDO:0020849	immunodeficiency 57	biolink:Disease	mondo	OMIM:618108		IMD57|IMMUNODEFICIENCY 57; IMD57	http://purl.obolibrary.org/obo/MONDO_0020849		http://identifiers.org/omim/618108
MONDO:0017208	obsolete intermediate uveitis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0017208		
MONDO:0020848	osteopetrosis, autosomal dominant 3	biolink:Disease	mondo	OMIM:618107		OSTEOPETROSIS, autosomal dominant 3; OPTA3|OPTA3	http://purl.obolibrary.org/obo/MONDO_0020848		http://identifiers.org/omim/618107
MONDO:0017209	infectious posterior uveitis	biolink:Disease	mondo	Orphanet:279919|ICD10:H20.0	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017209		ORPHA:279919
MONDO:0020847	mental retardation, autosomal dominant 58	biolink:Disease	mondo	OMIM:618106		MRD58|MENTAL RETARDATION, autosomal dominant 58; MRD58	http://purl.obolibrary.org/obo/MONDO_0020847		http://identifiers.org/omim/618106
MONDO:0020846	mental retardation, autosomal recessive 64	biolink:Disease	mondo	OMIM:618103		MRT64|MENTAL RETARDATION, autosomal recessive 64; MRT64	http://purl.obolibrary.org/obo/MONDO_0020846		http://identifiers.org/omim/618103
MONDO:0019867	mosaic trisomy 8	biolink:Disease	mondo	ICD10:Q92.1|Orphanet:96061|MedDRA:10053916|SCTID:717335009|MESH:C537940|GARD:0005359	ordo_malformation_syndrome|gard_rare	trisomy 8 mosaicism|Mosaic trisomy chromosome 8|Mosaic trisomy type 8|Warkany syndrome	http://purl.obolibrary.org/obo/MONDO_0019867	Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. It is characterized by facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies.	MEDDRA:10053916|SNOMEDCT:717335009|MESH:C537940|ORPHA:96061|UMLS:C1096527
MONDO:0017204	toxic maculopathy due to antimalarial drugs	biolink:Disease	mondo	ICD10:H35.3|Orphanet:279894|ICD10:T37.2|SCTID:763621004|UMLS:CN202676	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017204	Toxic maculopathy due to antimalarial drugs is a rare, acquired eye disease, due to long-term exposure to chloroquinine (CQ) or hydrochloroquinine (HCQ), characterized by a slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss.	ORPHA:279894|SNOMEDCT:763621004|UMLS:CN202676
MONDO:0020845	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5	biolink:Disease	mondo	OMIM:618098|DOID:0111524		PEOB5|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5; PEOB5|progressive external ophthalmoplegia, autosomal recessive 5	http://purl.obolibrary.org/obo/MONDO_0020845		http://identifiers.org/omim/618098|DOID:0111524
MONDO:0019866	mosaic trisomy 5	biolink:Disease	mondo	ICD10:Q92.1|MESH:C537762|Orphanet:96060|SCTID:764629008	ordo_malformation_syndrome	Mosaic trisomy type 5|trisomy 5 mosaicism|Mosaic trisomy chromosome 5	http://purl.obolibrary.org/obo/MONDO_0019866	Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated.	SNOMEDCT:764629008|MESH:C537762|ORPHA:96060
MONDO:0017205	primary oculocerebral lymphoma	biolink:Disease	mondo	Orphanet:279897	ordo_disease	primary oculocerebral non-Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0017205	Primary oculocerebral lymphoma is a rare, primary, organ-specific, extranodal non-Hodgkin's lymphoma (typically diffuse large B-cell lymphoma), simultaneously affecting the intraocular compartments (retina, vitreous, optic nerve, uvea and others) and the central nervous system (commonly the cerebellum, spinal cord or pia mater). The presenting symptoms vary depending on the localization of the tumor and may include vitreous floaters or blurred vision, raised intracranial pressure (headache, vomiting, papilledema) and/or focal neurological deficits.	ORPHA:279897
MONDO:0019869	mosaic trisomy 22	biolink:Disease	mondo	SCTID:764625002|Orphanet:96068|GARD:0006085|ICD10:Q92.1|MESH:C536796	ordo_malformation_syndrome|gard_rare	trisomy 22 mosaicism|Mosaic trisomy chromosome 22|Mosaic trisomy type 22	http://purl.obolibrary.org/obo/MONDO_0019869	Mosaic trisomy 22 isa chromosome disorder in which chromosome 22 is present three times, instead of the usual two times, in some cells of the body. The range and severity of the disorder can vary widely. Some of the features that have been associated with this conditioninclude growth delays,cognitive deficiencies, unequal developmentof the two sides of the body (hemidystrophy), webbing of the neck, abnormal deviation of the elbows when extended (cubitus valgus), multiple pigmented moles or birthmarks, distinctive malformations of the head and face, and other physical abnormalities. A number of cases of children with mosaic trisomy 22 and normal growth and development have also been described.	MESH:C536796|UMLS:C2931327|UMLS:C2931326|SNOMEDCT:764625002|ORPHA:96068
MONDO:0020843	pseudomembranous diphtheritic conjunctivitis	biolink:Disease	mondo	NCIT:C34543|UMLS:C0012554|ICD9:032.81|SCTID:7773002		pseudomembranous diphtheritic conjunctivitis|pseudomembranous diphtheritic conjunctivitis|Conjunctival diphtheria|Pseudomembranous Diphtheritic Conjunctivitis|Pseudomembranous diphtheritic conjunctivitis|conjunctival diphtheria	http://purl.obolibrary.org/obo/MONDO_0020843	Pseudomembranous colitis resulting from infection by Corynebacterium diphtheriae.	NCIT:C34543|SNOMEDCT:7773002|UMLS:C0012554
MONDO:0017206		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0017206		
MONDO:0017207	primary organ-specific lymphoma	biolink:Disease	mondo	NCIT:C7185|UMLS:C1334465|Orphanet:279911	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017207		NCIT:C7185|ORPHA:279911|UMLS:C1334465
MONDO:0019868	mosaic trisomy 10	biolink:Disease	mondo	SCTID:764461004|ICD10:Q92.1|Orphanet:96063|UMLS:CN035866|GARD:0005406|MESH:C538292	gard_rare|ordo_malformation_syndrome	mosaic trisomy 10|Mosaic trisomy type 10|trisomy 10 mosaicism|chromosome 10, uniparental disomy|Mosaic trisomy chromosome 10|uniparental disomy of 10	http://purl.obolibrary.org/obo/MONDO_0019868	Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia.	UMLS:CN035866|MESH:C538292|SNOMEDCT:764461004|ORPHA:96063
MONDO:0020842	obsolete medullary carcinoma	biolink:Disease	mondo	NCIT:C8998			http://purl.obolibrary.org/obo/MONDO_0020842	Medullary carcinoma may refer to one of several different tumors of epithelial origin. As the term 'medulla' is a generic anatomic descriptor for the mid-layer of various organ tissues, a medullary tumor usually arises from the 'mid-layer tissues' of the relevant organ.	NCIT:C8998
MONDO:0019863	obsolete acro-renal-ocular syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019863		
MONDO:0017200	polycystic ovaries-urethral sphincter dysfunction syndrome	biolink:Disease	mondo	UMLS:C2931462|MESH:C537271|GARD:0002365|Orphanet:2795	ordo_disease	voiding dysfunction and polycystic ovaries|fowler Christmas Chapple syndrome|fowler-Christmas-Chapple syndrome|fowler's syndrome|polycystic ovaries urethral sphincter dysfunction	http://purl.obolibrary.org/obo/MONDO_0017200	Polycystic ovaries-urethral sphincter dysfunction syndrome is characterised by urinary retention and incomplete emptying of the bladder associated with abnormal electromyographic activity. It has been described in 33 women, 14 of whom also had polycystic ovaries.	UMLS:C2931462|ORPHA:2795|MESH:C537271
MONDO:0019862	levocardia	biolink:Disease	mondo	NCIT:C111647|MedDRA:10071015|GARD:0012032|MESH:D007979|UMLS:C0023569|Orphanet:95854|ICD10:Q24.1|SCTID:205769006	ordo_morphological_anomaly|gard_rare	Isolated levocardia with situs inversus|levocardia-situs inversus|Situs inversus with levocardia	http://purl.obolibrary.org/obo/MONDO_0019862	A condition where the heart is in the correct anatomic position but some or all of the other thoracoabdominal viscera are in the opposite lateral orientation.	MESH:D007979|ORPHA:95854|MEDDRA:10071015|SNOMEDCT:205769006|NCIT:C111647|UMLS:C0023569
MONDO:0017201	Spasmus nutans (disease)	biolink:Disease	mondo	Orphanet:279882|SCTID:400948003|UMLS:C1527306|ICD10:F98.4|HP:0010533|MedDRA:10059593	ordo_clinical_syndrome	Spasmus nutans	http://purl.obolibrary.org/obo/MONDO_0017201	Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis.	SNOMEDCT:400948003|UMLS:C1527306|MEDDRA:10059593|ORPHA:279882
MONDO:0032820	neurodevelopmental disorder with structural brain anomalies and dysmorphic facies	biolink:Disease	mondo	OMIM:618577		NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF	http://purl.obolibrary.org/obo/MONDO_0032820		http://identifiers.org/omim/618577
MONDO:0017202	acute endophthalmitis	biolink:Disease	mondo	ICD10:H44.1|DOID:11752|UMLS:C0154773|MedDRA:10000730|SCTID:1493002|ICD9:360.01|Orphanet:279888|ICD10:H44.0|COHD:433765	ordo_clinical_subtype	endophthalmitis, acute	http://purl.obolibrary.org/obo/MONDO_0017202	Acute form of endophthalmitis.	ORPHA:279888|UMLS:C0154773|DOID:11752|MEDDRA:10000730|SNOMEDCT:1493002
MONDO:0019865	mosaic trisomy 4	biolink:Disease	mondo	SCTID:764628000|ICD10:Q92.1|Orphanet:96059	ordo_malformation_syndrome	Mosaic trisomy chromosome 4|Mosaic trisomy type 4|trisomy 4 mosaicism	http://purl.obolibrary.org/obo/MONDO_0019865	Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated.	SNOMEDCT:764628000|ORPHA:96059
MONDO:0017203	chronic endophthalmitis	biolink:Disease	mondo	SCTID:13978000|ICD10:H44.1|DOID:10697|UMLS:C0154774|Orphanet:279891|ICD9:360.03|COHD:443867|MedDRA:10008864|ICD10:H44.0	ordo_clinical_subtype	endophthalmitis, chronic	http://purl.obolibrary.org/obo/MONDO_0017203	Chronic form of endophthalmitis.	SNOMEDCT:13978000|ORPHA:279891|UMLS:C0154774|DOID:10697|MEDDRA:10008864
MONDO:0019864	tetrasomy 21	biolink:Disease	mondo	Orphanet:96055|SCTID:764690001|GARD:0012480|ICD10:Q99.8	gard_rare|ordo_malformation_syndrome	tetrasomy type 21|Isochromosome 21	http://purl.obolibrary.org/obo/MONDO_0019864	Tetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Haematological malignancies are also associated and may occur earlier than in trisomy 21.	SNOMEDCT:764690001|ORPHA:96055
MONDO:0019861	thyroid hypoplasia	biolink:Disease	mondo	Orphanet:95720|MedDRA:10065938|ICD10:E03.1	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0019861	Thyroid hypoplasia is a form of thyroid dysgenesis characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.	ORPHA:95720|UMLS:C0151516|MEDDRA:10065938
MONDO:0019860	thyroid hemiagenesis	biolink:Disease	mondo	Orphanet:95719|SCTID:715734006|ICD10:E03.1|UMLS:C4023190	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0019860	Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.	ORPHA:95719|UMLS:C4023190|SNOMEDCT:715734006
GO:0044381	glucose import in response to insulin stimulus	biolink:OntologyClass	mondo			cellular glucose import in response to insulin stimulus	http://purl.obolibrary.org/obo/GO_0044381	The directed movement of the hexose monosaccharide glucose into a cell as a result of an insulin stimulus.	
UBERON:0004417	proximal epiphysis of phalanx of manual digit 1	biolink:AnatomicalEntity	mondo			proximal epiphysis of phalanx of manual digit 1|proximal epiphysis of phalanx of thumb|basal epiphysis of phalanx of thumb|proximal epiphysis of phalanx of manual digit I|base of phalanx of thumb|base of phalanx of first digit of hand	http://purl.obolibrary.org/obo/UBERON_0004417	A proximal epiphysis that is part of a manual digit 1 phalanx [Automatically generated definition].	
UBERON:0016405	pulmonary capillary	biolink:AnatomicalEntity	mondo			capillary of lung	http://purl.obolibrary.org/obo/UBERON_0016405	A capillary that is part of a lung.	
UBERON:0016400	infrapatellar fat pad	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0016400	The infrapatellar fat pad, also known as Hoffa's fat pad, is a cylindrical piece of fat that is situated under and behind the patella bone within the knee.	
UBERON:0016402	mesocolic lymph node	biolink:AnatomicalEntity	mondo			pericolic lymph node|colic lymph node|mesocolic lymph node|colic node|pericolonic lymph node	http://purl.obolibrary.org/obo/UBERON_0016402	A lymph node that located_in a colon.	
PATO:0002143	sloped downward	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0002143		
UBERON:0004426	proximal epiphysis of fifth metacarpal bone	biolink:AnatomicalEntity	mondo			base of fifth metacarpal bone|fifth metacarpal bone base|proximal end of fifth metacarpal bone|proximal epiphysis of metacarpal 5	http://purl.obolibrary.org/obo/UBERON_0004426	A proximal epiphysis that is part of a metacarpal bone of digit 5 [Automatically generated definition].	
UBERON:0004427	proximal epiphysis of first metatarsal bone	biolink:AnatomicalEntity	mondo			proximal end of first metatarsal bone|base of first metatarsal bone|proximal epiphysis of metatarsal 1	http://purl.obolibrary.org/obo/UBERON_0004427	A proximal epiphysis that is part of a metatarsal bone of digit 1 [Automatically generated definition].	
UBERON:0004422	proximal epiphysis of first metacarpal bone	biolink:AnatomicalEntity	mondo			base of first metacarpal bone|proximal epiphysis of metacarpal 1|first metacarpal bone base	http://purl.obolibrary.org/obo/UBERON_0004422	A proximal epiphysis that is part of a metacarpal bone of digit 1 [Automatically generated definition].	
UBERON:0004421	proximal epiphysis of phalanx of manual digit 5	biolink:AnatomicalEntity	mondo			base of phalanx of fifth digit of hand|basal epiphysis of phalanx of little finger|proximal epiphysis of phalanx of little finger|basal epiphysis of phalanx of fifth finger|proximal epiphysis of phalanx of manual digit V|base of phalanx of little finger|proximal epiphysis of phalanx of manual digit 5|base of phalanx of fifth finger	http://purl.obolibrary.org/obo/UBERON_0004421	A proximal epiphysis that is part of a manual digit 5 phalanx [Automatically generated definition].	
GO:0007409	axonogenesis	biolink:OntologyClass	mondo			axon growth|axon morphogenesis|neuron long process generation	http://purl.obolibrary.org/obo/GO_0007409	De novo generation of a long process of a neuron, including the terminal branched region. Refers to the morphogenesis or creation of shape or form of the developing axon, which carries efferent (outgoing) action potentials from the cell body towards target cells.	
UBERON:0004408	distal epiphysis of ulna	biolink:AnatomicalEntity	mondo			lower end of ulna|distal end of ulna	http://purl.obolibrary.org/obo/UBERON_0004408	A distal epiphysis that is part of a ulna [Automatically generated definition].	
UBERON:0004409	distal epiphysis of phalanx of manus	biolink:AnatomicalEntity	mondo			head of phalanx of finger|ungual tuberosity of distal phalanx of finger|distal epiphysis of phalanx of hand|distal epiphysis of phalanx of finger|distal end of phalanx of hand|head of phalanx of hand	http://purl.obolibrary.org/obo/UBERON_0004409	A distal epiphysis that is part of a phalanx of manus [Automatically generated definition].	
UBERON:0004406	distal epiphysis of femur	biolink:AnatomicalEntity	mondo			distal femoral epiphysis|distal head of femur	http://purl.obolibrary.org/obo/UBERON_0004406	A distal epiphysis that is part of a femur [Automatically generated definition].	
UBERON:0004407	distal epiphysis of radius	biolink:AnatomicalEntity	mondo			distal end of radius|lower end of radius	http://purl.obolibrary.org/obo/UBERON_0004407	A distal epiphysis that is part of a radius [Automatically generated definition].	
UBERON:0004415	proximal epiphysis of metatarsal bone	biolink:AnatomicalEntity	mondo			proximal end of metatarsal bone|upper end of metatarsal bone|basis ossis metatarsi|base of metatarsal bone	http://purl.obolibrary.org/obo/UBERON_0004415	A proximal epiphysis that is part of a metatarsal bone [Automatically generated definition].	
HGNC:2843	DGAT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2843		
UBERON:0004416	proximal epiphysis of metacarpal bone	biolink:AnatomicalEntity	mondo			proximal end of metacarpal bone|metacarpal bone base|upper end of metacarpal bone|basis ossis metacarpi|base of metacarpal bone	http://purl.obolibrary.org/obo/UBERON_0004416	A proximal epiphysis that is part of a metacarpal bone [Automatically generated definition].	
UBERON:0004413	proximal epiphysis of radius	biolink:AnatomicalEntity	mondo			upper end of radius|proximal end of radius|proximal radial epiphysis	http://purl.obolibrary.org/obo/UBERON_0004413	A proximal epiphysis that is part of a radius [Automatically generated definition].	
UBERON:0004414	proximal epiphysis of phalanx of manus	biolink:AnatomicalEntity	mondo			basal epiphysis of phalanx of finger|basis phalangis manus|base of phalanx of finger|proximal epiphysis of phalanx of hand|proximal epiphysis of phalanx of finger	http://purl.obolibrary.org/obo/UBERON_0004414	A proximal epiphysis that is part of a phalanx of manus [Automatically generated definition].	
UBERON:0004411	proximal epiphysis of humerus	biolink:AnatomicalEntity	mondo			upper extremity of humerus|upper end of humerus|humeral head|proximal humerus|head of the humerus|proximal end of humerus|proximal humeral epiphysis	http://purl.obolibrary.org/obo/UBERON_0004411	The upper extremity of the humerus (proximal humerus) consists of a large rounded head joined to the body by a constricted portion called the neck, and two eminences, the greater and lesser tubercles.	
UBERON:0004412	proximal epiphysis of femur	biolink:AnatomicalEntity	mondo			proximal femoral epiphysis|capital femoral epiphysis	http://purl.obolibrary.org/obo/UBERON_0004412	A proximal epiphysis that is part of a femur [Automatically generated definition].	
UBERON:0004410	distal epiphysis of fibula	biolink:AnatomicalEntity	mondo			distal end of fibula|lower end of fibula	http://purl.obolibrary.org/obo/UBERON_0004410	A distal epiphysis that is part of a fibula [Automatically generated definition].	
HGNC:2847	DGCR8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2847		
HGNC:2846	DGCR6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2846		
HGNC:2845	DGCR2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2845		
HGNC:2844	DGCR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2844		
NCBITaxon:42068	Pneumocystis jirovecii	organism taxon	mondo	GC_ID:1		Pneumocystis jiroveci	http://purl.obolibrary.org/obo/NCBITaxon_42068		
CHEBI:33693	oxygen hydride	biolink:ChemicalSubstance	mondo			hydrides of oxygen|oxygen hydride|oxygen hydrides	http://purl.obolibrary.org/obo/CHEBI_33693		
CHEBI:33694	biomacromolecule	biolink:ChemicalSubstance	mondo			Biopolymere|biopolymers|biopolymer|biomacromolecules	http://purl.obolibrary.org/obo/CHEBI_33694	A macromolecule formed by a living organism.	
CHEBI:33695	information biomacromolecule	biolink:ChemicalSubstance	mondo			information macromolecule|genetically encoded biopolymers|information biopolymers|genetically encoded biomacromolecules|information macromolecules|information biomacromolecules	http://purl.obolibrary.org/obo/CHEBI_33695		
NCBITaxon:1511900	Primate erythroparvovirus 1	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1511900		
UBERON:0004404	distal epiphysis of humerus	biolink:AnatomicalEntity	mondo			lower end of humerus|distal end of humerus	http://purl.obolibrary.org/obo/UBERON_0004404	A distal epiphysis that is part of a humerus [Automatically generated definition].	
UBERON:0004405	distal epiphysis of tibia	biolink:AnatomicalEntity	mondo			lower end of tibia|distal end of tibia	http://purl.obolibrary.org/obo/UBERON_0004405	A distal epiphysis that is part of a tibia [Automatically generated definition].	
HGNC:2852	DGKE	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2852		
UBERON:0004402	bone tissue of proximal epiphysis	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004402	A portion of bone tissue that is part of a proximal epiphysis [Automatically generated definition].	
UBERON:0004403	periosteum of epiphysis	biolink:AnatomicalEntity	mondo			epiphysis periosteum	http://purl.obolibrary.org/obo/UBERON_0004403	A periosteum that is part of a epiphysis [Automatically generated definition].	
UBERON:0004400	bone tissue of epiphysis	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004400	A portion of bone tissue that is part of a epiphysis [Automatically generated definition].	
UBERON:0004401	bone tissue of distal epiphysis	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004401	A portion of bone tissue that is part of a distal epiphysis [Automatically generated definition].	
CHEBI:33692	hydrides	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_33692	Hydrides are chemical compounds of hydrogen with other chemical elements.	
HGNC:2859	DHCR24	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2859		
HGNC:2858	DGUOK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2858		
HGNC:2865	DHH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2865		
HGNC:2861	DHFR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2861		
HGNC:2860	DHCR7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2860		
MONDO:0007827	inclusion body myositis	biolink:Disease	mondo	DOID:3429|ICD9:359.71|NCIT:C84786|Orphanet:611|MESH:D018979|ICD10:G72.41|ICD9:729.1|COHD:4216406|SCTID:72315009|OMIM:147421|MedDRA:10066407|EFO:0007323|ICD10:M60.8|UMLS:C0238190|GARD:0003896	ordo_disease	distal myopathy, Nonaka type|inclusion body myopathy 3|IBM2|inclusion body myopathy 2|distal myopathy with rimmed vacuoles (DMRV)|HIBM|IBM|IBM-3|sIBM|distal myopathy with rimmed vacuoles|inflammatory myopathy|Nonaka myopathy|sporadic inclusion body myositis|Ibm|inclusion body myositis|hereditary inclusion body myopathy	http://purl.obolibrary.org/obo/MONDO_0007827	Inclusion body myositis (IBM) is a slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features.	NCIT:C84786|UMLS:C0238190|MEDDRA:10066407|SNOMEDCT:72315009|ORPHA:611|DOID:3429|http://identifiers.org/omim/147421|MESH:D018979
MONDO:0007828	indifference to pain, congenital, autosomal dominant	biolink:Disease	mondo	MESH:C564128|OMIM:147430|UMLS:C1840219		congenital analgesia, autosomal dominant|Marsili syndrome|MARSILI syndrome; MARSIS|insensitivity to pain, congenital, autosomal dominant|MARSIS|indifference to pain, congenital, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0007828		MESH:C564128|http://identifiers.org/omim/147430|UMLS:C1840219
MONDO:0007825	incisors, rotation of upper central	biolink:Disease	mondo	OMIM:147350		incisors, rotation of upper central	http://purl.obolibrary.org/obo/MONDO_0007825		http://identifiers.org/omim/147350
OBO:cl#has_not_completed	has_not_completed	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/cl#has_not_completed		
MONDO:0007826	incisors, shovel-shaped	biolink:Disease	mondo	OMIM:147400		Sinodonty|incisors, shovel-shaped	http://purl.obolibrary.org/obo/MONDO_0007826		http://identifiers.org/omim/147400
MONDO:0007823	insulin receptors, familial increase 1N	biolink:Disease	mondo	OMIM:147320		insulin receptors, familial increase type 1N|insulin receptors, familial increase IN	http://purl.obolibrary.org/obo/MONDO_0007823		http://identifiers.org/omim/147320
MONDO:0007824	incisors, lower central, absence of	biolink:Disease	mondo	OMIM:147330		incisors, lower central, absence of	http://purl.obolibrary.org/obo/MONDO_0007824		http://identifiers.org/omim/147330
MONDO:0007821	immunoglobulin switch sequences	biolink:Disease	mondo	UMLS:C1840234|OMIM:147260		Immunoglobulin-independent switch Sequences|S Sequences|immunoglobulin switch sequences	http://purl.obolibrary.org/obo/MONDO_0007821		http://identifiers.org/omim/147260|UMLS:C1840234
HGNC:2867	DHODH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2867		
MONDO:0007822	incisors, long upper central	biolink:Disease	mondo	OMIM:147300		incisors, long upper central	http://purl.obolibrary.org/obo/MONDO_0007822		http://identifiers.org/omim/147300
CHEBI:33679	helium molecular entity	biolink:ChemicalSubstance	mondo			helium molecular entity|helium molecular entities|helium compounds	http://purl.obolibrary.org/obo/CHEBI_33679		
MONDO:0007820	fused mandibular incisors	biolink:Disease	mondo	ICD10:K00.2|OMIM:147251|UMLS:CN201433|SCTID:707796002|Orphanet:2287|GARD:0002419	ordo_morphological_anomaly|gard_rare	'Double Tooth'|incisors, FUSED mandibular|Double tooth	http://purl.obolibrary.org/obo/MONDO_0007820	Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia and an increased risk of pulp exposure.	ORPHA:2287|UMLS:CN201433|SNOMEDCT:707796002|http://identifiers.org/omim/147251|UMLS:C2931081|MESH:C535997
UBERON:0016447	hair of trunk	biolink:AnatomicalEntity	mondo			trunk hair	http://purl.obolibrary.org/obo/UBERON_0016447	A strand of hair that is part of a trunk.	
MONDO:0019809	congenital aortic valve insufficiency	biolink:Disease	mondo	UMLS:C0158617|ICD9:746.4|Orphanet:95449|ICD10:Q23.1|COHD:321107|MedDRA:10010370|SCTID:28656008|NCIT:C103936	ordo_disease	Congential aortic valve insufficiency|congenital insufficiency of aortic valve|congenital aortic insufficiency	http://purl.obolibrary.org/obo/MONDO_0019809	Dysfunction of the aortic valve characterized by incomplete valve closure that is present at birth.	MEDDRA:10010370|UMLS:C0158617|NCIT:C103936|SNOMEDCT:28656008|ORPHA:95449
MONDO:0019808	aortic valve atresia (disease)	biolink:Disease	mondo	MedDRA:10066801|SCTID:51442005|Orphanet:95448|ICD10:Q23.0|NCIT:C98818|HP:0010883	ordo_clinical_subtype	aortic valve atresia|congenital atresia of aortic valve|congenital aortic valve atresia	http://purl.obolibrary.org/obo/MONDO_0019808	A rare congenital heart defect characterized by the complete failure of the aortic valve to open. It is manifested during infancy with cyanosis, dyspnea, and rapidly progressing heart failure.	NCIT:C98818|MEDDRA:10066801|SNOMEDCT:51442005|ORPHA:95448
UBERON:0016446	hair of head	biolink:AnatomicalEntity	mondo			hair of scalp|head hair	http://purl.obolibrary.org/obo/UBERON_0016446	A strand of hair that is part of a head.	
UBERON:0004462	musculature of body wall	biolink:AnatomicalEntity	mondo			body wall musculature|body wall muscles	http://purl.obolibrary.org/obo/UBERON_0004462	Any collection of muscles that is part of a body wall [Automatically generated definition].	
MONDO:0019816	anomaly of the tricuspid subvalvular apparatus	biolink:Disease	mondo	Orphanet:95463|ICD10:Q22.8	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019816		ORPHA:95463
CHEBI:33671	heteropolycyclic compound	biolink:ChemicalSubstance	mondo			heteropolycyclic compounds|polyheterocyclic compounds	http://purl.obolibrary.org/obo/CHEBI_33671	A polycyclic compound in which at least one of the rings contains at least one non-carbon atom.	
MONDO:0019815	accessory tricuspid valve tissue	biolink:Disease	mondo	Orphanet:95462|ICD10:Q22.8	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0019815	Accessory tricuspid valve tissue is a rare, congenital, atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly.	ORPHA:95462
CHEBI:33672	heterobicyclic compound	biolink:ChemicalSubstance	mondo			heterobicyclic compounds	http://purl.obolibrary.org/obo/CHEBI_33672	A bicyclic compound in which at least one of the rings contains at least one skeletal heteroatom.	
UBERON:0004463	musculature of hindlimb stylopod	biolink:AnatomicalEntity	mondo			muscle group of thigh|thigh musculature|musculature of thigh|set of muscles of thigh	http://purl.obolibrary.org/obo/UBERON_0004463	Any collection of muscles that is part of a hindlimb stylopod (upper leg / thigh)[Automatically generated definition].	
CHEBI:33673	zinc group molecular entity	biolink:ChemicalSubstance	mondo			zinc group molecular entities	http://purl.obolibrary.org/obo/CHEBI_33673		
MONDO:0019818	cleft mitral valve	biolink:Disease	mondo	ICD10:Q23.3|Orphanet:95465	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0019818		ORPHA:95465
CHEBI:33674	s-block molecular entity	biolink:ChemicalSubstance	mondo			s-block molecular entity|s-block molecular entities|s-block compounds	http://purl.obolibrary.org/obo/CHEBI_33674	An s-block molecular entity is a molecular entity containing one or more atoms of an s-block element.	
MONDO:0019817	congenital mitral valve insufficiency and/or stenosis	biolink:Disease	mondo	ICD10:Q23.3|ICD10:Q23.2|Orphanet:95464|ICD10:Q23	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019817		ORPHA:95464
UBERON:0004461	skeletal musculature of head	biolink:AnatomicalEntity	mondo			muscles of head|muscle group of head|head musculature|musculi capitis|set of muscles of head	http://purl.obolibrary.org/obo/UBERON_0004461	Any collection of skeletal muscles that is part of a head [Automatically generated definition].	
CHEBI:33675	p-block molecular entity	biolink:ChemicalSubstance	mondo			p-block molecular entities|p-block compounds|p-block molecular entitiy	http://purl.obolibrary.org/obo/CHEBI_33675	A main group molecular entity that contains one or more atoms of a p-block element.	
MONDO:0019812	obsolete tricuspid valve prolapse	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019812		
CHEBI:33676	d-block molecular entity	biolink:ChemicalSubstance	mondo			d-block molecular entity|d-block molecular entities|d-block compounds	http://purl.obolibrary.org/obo/CHEBI_33676	A d-block molecular entity is a molecular entity containing one or more atoms of a d-block element.	
PATO:0002103	infiltrative	biolink:OntologyClass	mondo			infiltrating	http://purl.obolibrary.org/obo/PATO_0002103	A structural quality inhering in a bearer by virtue of the bearer's penetrating or permeating another substance or area.	
MONDO:0019811	tricuspid valve agenesis	biolink:Disease	mondo	ICD10:Q22.4|Orphanet:95457	ordo_morphological_anomaly	congenital unguarded tricuspid orifice	http://purl.obolibrary.org/obo/MONDO_0019811		ORPHA:95457
MONDO:0019814	straddling or overriding tricuspid valve	biolink:Disease	mondo	ICD10:Q22.8|Orphanet:95461	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0019814	Straddling or overriding tricuspid valve is a rare, congenital, tricuspid valve malformation characterized by the tricuspid valve that overrides the ventricular septum and communicates with both ventricles, as part of the tension apparatus of the valve crosses the ventricular septal defect and is attached in the left ventricle. The anomaly occurs with other congenital heart defects (transposition of great vessels, left ventricle outflow tract obstruction, double outlet right ventricle, hypoplastic right ventricle), which determine the main clinical manifestation.	ORPHA:95461
MONDO:0019813	congenital tricuspid stenosis	biolink:Disease	mondo	Orphanet:95459|ICD10:Q22.4|SCTID:36233006|MedDRA:10010656	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0019813		MEDDRA:10010656|UMLS:C0265836|ORPHA:95459|SNOMEDCT:36233006
HGNC:2876	DIAPH1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2876		
MONDO:0019810	toxic epidermal necrolysis	biolink:Disease	mondo	MedDRA:10044223|UMLS:C0014518|EFO:0004775|Orphanet:95455|ICD9:695.15|SCTID:23067006|GARD:0007743|NCIT:C79777|ICD10:L51.2	gard_rare|ordo_disease	Lyell's syndrome|TEN|toxic epidermolysis|Lyell syndrome|Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum|SJS-TEN	http://purl.obolibrary.org/obo/MONDO_0019810	Toxic epidermal necrolysis (TEN) is an acute and severe skin disease with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes.	UMLS:C0014518|ORPHA:95455|MEDDRA:10044223|MESH:D004816|NCIT:C79777|SNOMEDCT:23067006
UBERON:0004468	set of muscles of vertebral column	biolink:AnatomicalEntity	mondo			muscle group of vertebral column	http://purl.obolibrary.org/obo/UBERON_0004468		
UBERON:0004469	musculature of back	biolink:AnatomicalEntity	mondo			muscle group of back|musculi dorsi|set of muscles of back|muscles of back	http://purl.obolibrary.org/obo/UBERON_0004469	Any collection of muscles that is part of a back [Automatically generated definition].	
HGNC:2873	CYB5R3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2873		
UBERON:0004466	musculature of leg	biolink:AnatomicalEntity	mondo			leg muscle system	http://purl.obolibrary.org/obo/UBERON_0004466	Any collection of muscles that is part of a lower leg or upper leg [Automatically generated definition].	
MONDO:0007818	Hyper-IgE recurrent infection syndrome 1	biolink:Disease	mondo	Orphanet:2314|ICD10:D82.4|EFO:0003775|OMIM:147060|NCIT:C126342|GARD:0006800|DOID:3261|SCTID:50926003	gard_rare|ordo_disease	hyper Ig E syndrome, autosomal dominant|hyper-IgE syndrome, autosomal dominant|hyper-IgE recurrent infection syndrome, autosomal dominant|Job's syndrome|hyperimmunoglobulin E syndrome type 1|Buckley syndrome|autosomal dominant HIES|autosomal dominant hyperimmunoglobulin E syndrome|hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant|Job syndrome|HIES, autosomal dominant|STAT3 deficiency|AD hyperimmunoglobulin E syndrome|autosomal dominant hyper-IgE syndrome|autosomal dominant hyper IgE syndrome|AD-HIES|hyper-IgE recurrent infection syndrome|hyperimmunoglobulin E-recurrent infection syndrome|HIES autosomal dominant|Job syndrome autosomal dominant|hyperimmunoglobulin E syndrome	http://purl.obolibrary.org/obo/MONDO_0007818	A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome.	SNOMEDCT:50926003|ORPHA:2314|UMLS:C2936739|DOID:3261|http://identifiers.org/omim/147060|UMLS:C3489795|NCIT:C126342
UBERON:0004464	musculature of thorax	biolink:AnatomicalEntity	mondo			set of muscles of thorax|musculi thoracis|muscles of thorax|thoracic musculature|muscle group of thorax	http://purl.obolibrary.org/obo/UBERON_0004464	Any collection of muscles that is part of a thorax [Automatically generated definition].	
UBERON:0004465	musculature of neck	biolink:AnatomicalEntity	mondo			musculi cervicis|set of muscles of neck|cervical muscles|muscles of neck|muscle group of neck|musculi colli|neck musculature	http://purl.obolibrary.org/obo/UBERON_0004465	Any collection of muscles that is part of a neck [Automatically generated definition].	
MONDO:0007819	solitary median maxillary central incisor syndrome	biolink:Disease	mondo	Orphanet:2286|ICD10:K00.2|SCTID:707609006|OMIM:147250|MESH:C537342|GARD:0004877	ordo_clinical_subtype	SMMCI|single central maxillary incisor|solitary MEDIAN maxillary central incisor|single upper central incisor|SMMCI syndrome|incisors, Fused|incisors fused|solitary median maxillary central incisor syndrome|Fused incisors|solitary MEDIAN maxillary central incisor; SMMCI	http://purl.obolibrary.org/obo/MONDO_0007819	A hereditary autosomal dominant condition characterized primarily by single (unpaired) deciduous and permanent maxillary central incisors and short stature. Growth hormone deficiencies may also be present. Mutations in the SHH gene have been identified.	SNOMEDCT:707609006|ORPHA:2286|MESH:C537342|http://identifiers.org/omim/147250|UMLS:C1840235
CHEBI:33670	heteromonocyclic compound	biolink:ChemicalSubstance	mondo			heteromonocyclic compound|heteromonocyclic compounds	http://purl.obolibrary.org/obo/CHEBI_33670		
MONDO:0007838	Jacobsen syndrome	biolink:Disease	mondo	Orphanet:2308|OMIM:147791|GARD:0000307|DOID:0111723|ICD10:Q93.5|NCIT:C75457|SCTID:715438008|UMLS:C0795841	ordo_malformation_syndrome	chromosome 11q deletion syndrome|telomeric deletion 11q|Del(11)(q23.3)|distal deletion 11q|Del(11)(qter)|partial 11q monosomy syndrome|distal monosomy 11q|11q terminal deletion disorder|JBS|Jacobsen syndrome|Jacobsen syndrome; JBS|monosomy 11qter	http://purl.obolibrary.org/obo/MONDO_0007838	Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.	ORPHA:2308|SNOMEDCT:715438008|UMLS:C0795841|NCIT:C75457|MESH:D054868|DOID:0111723|http://identifiers.org/omim/147791
MONDO:0007839	Aase-Smith syndrome	biolink:Disease	mondo	GARD:0005642|ICD10:Q87.8|UMLS:C0220686|MedDRA:10063429|MESH:C535332|SCTID:718576001|OMIM:147800|Orphanet:916	ordo_malformation_syndrome	Aase-Smith I syndrome|Aase-Smith syndrome I|Aase-Smith syndrome|hydrocephalus-cleft palate-joint contractures syndrome|Aase-Smith syndrome 1|Aase-Smith syndrome type 1|Joint contractures with Other abnormalities	http://purl.obolibrary.org/obo/MONDO_0007839	Aase-Smith syndrome type I is a very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.	SNOMEDCT:718576001|MESH:C535332|MEDDRA:10063429|ORPHA:916|http://identifiers.org/omim/147800|UMLS:C0220686
MONDO:0007836	IVIC syndrome	biolink:Disease	mondo	OMIM:147750|DOID:0111381|UMLS:C1327918|ICD10:Q71.8|GARD:0000269|Orphanet:2307|MESH:C535544|SCTID:722019000	ordo_malformation_syndrome|gard_rare	oculootoradial syndrome|radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia|radial Ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia|OORS|oculo-oto-radial syndrome|Instituto venezolano de Investigaciones Cientificas syndrome|IVIC syndrome	http://purl.obolibrary.org/obo/MONDO_0007836	IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.	ORPHA:2307|DOID:0111381|UMLS:C1327918|MESH:C535544|http://identifiers.org/omim/147750|SNOMEDCT:722019000
NCBITaxon:318477	Dracunculidae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_318477		
MONDO:0007837	Johnson neuroectodermal syndrome	biolink:Disease	mondo	OMIM:147770|MESH:C535882|GARD:0000378|Orphanet:2316|ICD10:Q87.8|SCTID:721584005|UMLS:C0796002	gard_rare|ordo_malformation_syndrome	alopecia anosmia deafness hypogonadism syndrome|alopecia-anosmia-deafness-hypogonadism syndrome|Johnson neuroectodermal syndrome|Johnson-McMillin syndrome|alopecia-anosmia-conductive hearing loss-hypogonadism syndrome|Aadh syndrome	http://purl.obolibrary.org/obo/MONDO_0007837	Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism.	ORPHA:2316|SNOMEDCT:721584005|MESH:C535882|http://identifiers.org/omim/147770|UMLS:C0796002
MONDO:0007834	islet cell adenomatosis	biolink:Disease	mondo	MESH:C563258|OMIM:147630|UMLS:C1578917|NCIT:C4375|SCTID:274944000		Insulinomatosis and diabetes mellitus|INSDM|Nesidioblastosis|INSULINOMATOSIS and diabetes mellitus; INSDM|islet cell adenomatosis|Nesidioblastosis	http://purl.obolibrary.org/obo/MONDO_0007834	A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia.	SNOMEDCT:274944000|MESH:C563258|http://identifiers.org/omim/147630|UMLS:C1578917|NCIT:C4375
NCBITaxon:318479	Dracunculus medinensis	organism taxon	mondo	GC_ID:1		dracunculiasis worm|Guinea worm disease nematode|Guinea worm	http://purl.obolibrary.org/obo/NCBITaxon_318479		
MONDO:0007835	intussusception	biolink:Disease	mondo	MESH:D007443|UMLS:C0021933|DOID:8446|ICD9:560.0|ICD10:K56.1|SCTID:49723003|OMIM:147710		intussusception (morphologic abnormality)|intussusception of intestine|invagination of intestine or colon|intussusception	http://purl.obolibrary.org/obo/MONDO_0007835	Telescoping or invagination of a part of the intestine into an adjacent segment.	SNOMEDCT:49723003|MESH:D007443|NCIT:C113484|http://identifiers.org/omim/147710|DOID:8446|UMLS:C0021933
NCBITaxon:318478	Dracunculus <nematodes>	organism taxon	mondo	GC_ID:1		Dracunculus	http://purl.obolibrary.org/obo/NCBITaxon_318478		
MONDO:0007832	interferon antiviral depressor	biolink:Disease	mondo	OMIM:147560		interferon antiviral depressor	http://purl.obolibrary.org/obo/MONDO_0007832		http://identifiers.org/omim/147560
MONDO:0007833	iris pigment layer, cleavage of	biolink:Disease	mondo	OMIM:147610		iris pigment layer, cleavage of	http://purl.obolibrary.org/obo/MONDO_0007833		http://identifiers.org/omim/147610
HGNC:2877	DIAPH2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2877		
MONDO:0007830	insensitivity to pain with hyperplastic Myelinopathy	biolink:Disease	mondo	OMIM:147530		insensitivity to pain with hyperplastic Myelinopathy	http://purl.obolibrary.org/obo/MONDO_0007830		http://identifiers.org/omim/147530
MONDO:0007831	insect Stings, hypersensitivity to	biolink:Disease	mondo	OMIM:147540		insect Stings, hypersensitivity to	http://purl.obolibrary.org/obo/MONDO_0007831		http://identifiers.org/omim/147540
UBERON:0016435	chest wall	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0016435	Subdivision of thorax which includes all structures from the skin to the costal pleura. Examples: There is only one chest wall.	
MONDO:0019805	twin to twin transfusion syndrome	biolink:Disease	mondo	NCIT:C113824|MedDRA:10058328|ICD10:O43.02|GARD:0000325|SCTID:13404009|EFO:1001221|Orphanet:95431|DOID:13576|ICD10:O43.0|UMLS:CN206761|ICD10:O43.029|MESH:D005330	ordo_disease	Feto-fetal transfusion syndrome|stuck Twin syndrome|fetal hemorrhage into co-twin|Twin to twin transfusion|Fetofetal transfusion syndrome|fetal blood loss from fetal hemorrhage into co-twin|Twin-to-twin blood transfer|placental transfusion syndrome|TTTS|fetal transfusion syndrome|Twin-Twin transfusion syndrome|twin-to-twin transfusion syndrome	http://purl.obolibrary.org/obo/MONDO_0019805	Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated	SNOMEDCT:13404009|MEDDRA:10058328|DOID:13576|ORPHA:95431|UMLS:CN206761|MESH:D005330|NCIT:C113824
UBERON:0004451	trunk or cervical vertebra	biolink:AnatomicalEntity	mondo			presacral vertebra	http://purl.obolibrary.org/obo/UBERON_0004451	A vertebra in the trunk or cervical region. Includes all cervical, thoracic and lumbar vertebrae, but excludes caudal vertebra.	
MONDO:0019804	tracheomalacia	biolink:Disease	mondo	SCTID:95467005|MedDRA:10010654|UMLS:C0948187|HP:0002779|ICD10:Q32.0|Orphanet:95430|DOID:0060313|ICD9:748.3|GARD:0010515|COHD:4316227|NCIT:C98634	ordo_morphological_anomaly	congenital tracheomalacia|type 1 tracheomalacia|congenital major airway collapse|tracheomalacia, congenital	http://purl.obolibrary.org/obo/MONDO_0019804	Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months.	UMLS:C0392109|MESH:C557675|UMLS:C0948187|MEDDRA:10010654|DOID:0060313|ORPHA:95430|NCIT:C98634|SNOMEDCT:95467005
UBERON:0004452	carpal region	biolink:AnatomicalEntity	mondo			wrist|carpal limb segment|carpus of fore-paw|articulatio radiocarpea|carpal segment|manus mesopodium|regio carpalis|wrist region|carpus|fore basipodium|fore mesopodium|hand mesopodium	http://purl.obolibrary.org/obo/UBERON_0004452	A mesopodium that is part of a manus. Includes as parts the carpal skeleton and associated tissues[cjm]. The anatomical region surrounding the carpus including the distal parts of the bones of the forearm and the proximal parts of the metacarpus or five metacarpal bones and the series of joints between these bones, thus referred to as wrist joints. This region also includes the carpal tunnel, the anatomical snuff box, the flexor retinaculum, and the extensor retinaculum[WP,unvetted]	
MONDO:0019807	mesocardia (disease)	biolink:Disease	mondo	ICD10:Q24.8|Orphanet:95443|HP:0011599|ICD9:746.87|SCTID:16567006	ordo_morphological_anomaly	mesocardia|Midline heart	http://purl.obolibrary.org/obo/MONDO_0019807		SNOMEDCT:16567006|UMLS:C0265865|ORPHA:95443
MONDO:0019806	primary progressive aphasia	biolink:Disease	mondo	NCIT:C85024|MESH:D018888|EFO:0009053|UMLS:C0282513|ICD10:G31.0|Orphanet:95432|GARD:0008541	ordo_group_of_disorders	primary progressive aphasia syndrome|Mesulam syndrome|PPA	http://purl.obolibrary.org/obo/MONDO_0019806	Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA).	UMLS:C0282513|NCIT:C85024|ORPHA:95432|MESH:D018888
MONDO:0019801	acute adrenal insufficiency	biolink:Disease	mondo	NCIT:C112840|ICD10:E27.2|SCTID:24867002|ICD9:255.41|UMLS:C0151467|Orphanet:95409	ordo_clinical_syndrome	acute adrenal failure|adrenal crisis|acute adrenocortical insufficiency|adrenocortical crisis|Addisonian crisis	http://purl.obolibrary.org/obo/MONDO_0019801	Acute adrenal insufficiency (AAI) is a rare but severe condition caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made.	UMLS:C0151467|SNOMEDCT:24867002|ORPHA:95409|NCIT:C112840
GO:0140375	immune receptor activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0140375	Receiving a signal and transmitting it in a cell to initiate an immune response.	
MONDO:0019800	chronic hepatic porphyria	biolink:Disease	mondo	ICD10:E80.2|Orphanet:95161	ordo_group_of_disorders	chronic acute hepatic porphyria|acute hepatic porphyria, chronic	http://purl.obolibrary.org/obo/MONDO_0019800	Chronic hepatic porphyrias represent a sub-group of porphyrias. They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare).	ORPHA:95161
MONDO:0019803	angioma serpiginosum	biolink:Disease	mondo	UMLS:CN206759|NCIT:C3926|SCTID:49465005|DOID:4028|ICD10:L81.7|Orphanet:95429	ordo_disease	angioma serpiginosum of skin	http://purl.obolibrary.org/obo/MONDO_0019803	Angioma serpiginosum (AS) is a benign congenital skin disease characterised by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko.	NCIT:C3926|DOID:4028|ORPHA:95429|UMLS:CN206759|SNOMEDCT:49465005
MONDO:0019802	secondary short bowel syndrome	biolink:Disease	mondo	ICD10:K91.2|Orphanet:95427|UMLS:CN206757	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019802	Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.	ORPHA:95427|UMLS:CN206757
UBERON:0004455	neurula embryo	biolink:AnatomicalEntity	mondo			neurula	http://purl.obolibrary.org/obo/UBERON_0004455	An embryo at the neurula stage.	
UBERON:0004456	entire sense organ system	biolink:AnatomicalEntity	mondo			sense organ system	http://purl.obolibrary.org/obo/UBERON_0004456	Sum of all sensory systems in an organism.	
MONDO:0007829	cholestasis, intrahepatic, of pregnancy, 1	biolink:Disease	mondo	DOID:0070228|UMLS:C3549845|OMIM:147480		cholestasis, pregnancy-related, 1|cholestasis, intrahepatic, of pregnancy, type 1|cholestasis, intrahepatic, of pregnancy, 1; ICP1|ICP1|cholestasis, intrahepatic, of pregnancy, 1	http://purl.obolibrary.org/obo/MONDO_0007829		DOID:0070228|http://identifiers.org/omim/147480|UMLS:C3549845
UBERON:0004453	metacarpus region	biolink:AnatomicalEntity	mondo			metacarpal part of hand|metacarpus|forelimb cannon region|metacarpal part of manus|metacarpal region|forelimb equine cannon region|distal segment of hand proper	http://purl.obolibrary.org/obo/UBERON_0004453	A metapodium region that is part of a manus.	
UBERON:0004454	tarsal region	biolink:AnatomicalEntity	mondo			articulatio talocruralis|ankle region|tarsal limb segment|hock|ankle|hind basipodium|hind mesopodium	http://purl.obolibrary.org/obo/UBERON_0004454	mesopodial segment of the pes, including the tarsal skeleton and associated tissues.	
MONDO:0007805	hypotrichosis 2	biolink:Disease	mondo	OMIM:146520|MESH:C564143|DOID:0110699		HYPT2|hypotrichosis type 2|CDSN hypotrichosis|hypotrichosis caused by mutation in CDSN|Spanish type hypotrichosis|hypotrichosis 2|Htss1|Htss|hypotrichosis simplex of the scalp 1|hypotrichosis 2; HYPT2|hypt2|hypotrichosis, Spanish type	http://purl.obolibrary.org/obo/MONDO_0007805	Any hypotrichosis in which the cause of the disease is a mutation in the CDSN gene.	http://identifiers.org/omim/146520|MESH:C564143|DOID:0110699
HGNC:20297	SLITRK1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20297		
MONDO:0007806	hypotrichosis 4	biolink:Disease	mondo	MESH:C567718|UMLS:C2750815|OMIM:146550|DOID:0110701		hypotrichosis type 4|hypotrichosis 4|Muhh1|HYPT4|hypotrichosis caused by mutation in HR|HR hypotrichosis|hypotrichosis, Marie Unna type, 1|Marie Unna hereditary hypotrichosis 1|hypotrichosis 4; HYPT4|hypt4	http://purl.obolibrary.org/obo/MONDO_0007806	Any hypotrichosis in which the cause of the disease is a mutation in the HR gene.	http://identifiers.org/omim/146550|UMLS:C2750815|MESH:C567718|DOID:0110701
MONDO:0007803	multiple system atrophy	biolink:Disease	mondo	EFO:1001050|UMLS:C0393571|OMIM:146500|MESH:D019578|UMLS:C0037019|GARD:0007079|ICD10:G90.3|Orphanet:102|DOID:4752|MedDRA:10064060|NCIT:C84909	ordo_disease	Shy-dragger syndrome (formerly)|MSA|susceptibility to multiple system atrophy 1|Shy-Drager syndrome|hypotension, orthostatic|autonomic failure, Pure|multisystem atrophy	http://purl.obolibrary.org/obo/MONDO_0007803	Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years.	http://identifiers.org/omim/146500|UMLS:C0393571|NCIT:C84909|MEDDRA:10064060|UMLS:C0037019|ORPHA:102|DOID:4752|MESH:D019578
MONDO:0007804	Pallister-hall syndrome	biolink:Disease	mondo	ICD9:759.89|MESH:D054975|UMLS:C0265220|SCTID:56677004|OMIM:146510|Orphanet:672|ICD10:D33.0|NCIT:C84987|GARD:0007305|DOID:9248	ordo_malformation_syndrome|gard_rare	PHS|ano-cerebro-digital syndrome|hypothalamic hamartoblastoma syndrome|Pallister-Hall syndrome|hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly|Pallister-Hall syndrome; PHS|Pallister Hall syndrome	http://purl.obolibrary.org/obo/MONDO_0007804	Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations.	DOID:9248|http://identifiers.org/omim/146510|SNOMEDCT:56677004|NCIT:C84987|UMLS:C0265220|ORPHA:672|MESH:D054975
MONDO:0007801	obsolete hypoplasia of teeth roots	biolink:Disease	mondo	OMIM:146400|MESH:C564144		hypoplasia of teeth roots	http://purl.obolibrary.org/obo/MONDO_0007801		MESH:C564144|http://identifiers.org/omim/146400
MONDO:0007802	hypospadias 3, autosomal	biolink:Disease	mondo	UMLS:C2675154|MESH:C567191|OMIM:146450		hypospadias 3, autosomal|hypospadias 3, autosomal; HYSP3|HYSP3	http://purl.obolibrary.org/obo/MONDO_0007802		MESH:C567191|UMLS:C2675154|http://identifiers.org/omim/146450
HGNC:2889	DISC2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2889		
UBERON:0004439	proximal epiphysis of middle phalanx of manual digit 5	biolink:AnatomicalEntity	mondo			proximal epiphysis of middle phalanx of little finger|base of middle phalanx of little finger|base of middle phalanx of fifth finger|proximal epiphysis of middle phalanx of manual digit V|base of middle phalanx of fifth digit of hand|basal epiphysis of middle phalanx of little finger|basal epiphysis of middle phalanx of fifth finger	http://purl.obolibrary.org/obo/UBERON_0004439	A proximal epiphysis that is part of a middle phalanx of manual digit 5 [Automatically generated definition].	
MONDO:0007800	chromosome 18p deletion syndrome	biolink:Disease	mondo	SCTID:270890001|OMIM:146390|DOID:0060406|NCIT:C84521|GARD:0008631|ICD10:Q93.5|UMLS:C0432442|ICD9:758.39|MESH:C538309|Orphanet:1598	ordo_disease	chromosome 18p deletion syndrome|18p-|18p- syndrome|De Grouchy syndrome|deletion 18p syndrome|chromosome 18p deletion|18P syndrome|18P- syndrome|monosomy type 18p|monosomy 18p	http://purl.obolibrary.org/obo/MONDO_0007800	Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18.	NCIT:C84521|SNOMEDCT:270890001|MESH:C538309|ORPHA:1598|UMLS:C0432442|http://identifiers.org/omim/146390|DOID:0060406
HGNC:2888	DISC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2888		
UBERON:0016426	proximal interphalangeal joint of little finger	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0016426		
CHEBI:33658	arene	biolink:ChemicalSubstance	mondo			aromatic hydrocarbons|arene|arenes	http://purl.obolibrary.org/obo/CHEBI_33658	Any monocyclic or polycyclic aromatic hydrocarbon.	
PATO:0002129	neoplastic, invasive	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0002129	A disposition inhering in a tumour by virtue of the bearer's disposition to invade surrounding tissues.	
CHEBI:33659	organic aromatic compound	biolink:ChemicalSubstance	mondo			organic aromatic compounds	http://purl.obolibrary.org/obo/CHEBI_33659		
HGNC:2890	DKC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2890		
PATO:0002124	laminar	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0002124	A quality inhering in a bearer by virtue of the bearer's processing the form of a thin plate sheet or layer.	
CHEBI:33653	aliphatic compound	biolink:ChemicalSubstance	mondo			aliphatic compounds	http://purl.obolibrary.org/obo/CHEBI_33653	Any acyclic or cyclic, saturated or unsaturated carbon compound, excluding aromatic compounds.	
CHEBI:33654	alicyclic compound	biolink:ChemicalSubstance	mondo			alicyclic compounds	http://purl.obolibrary.org/obo/CHEBI_33654	An aliphatic compound having a carbocyclic ring structure which may be saturated or unsaturated, but may not be a benzenoid or other aromatic system.	
CHEBI:33655	aromatic compound	biolink:ChemicalSubstance	mondo			aromatic compounds|aromatics|aromatische Verbindungen|aromatic molecular entity	http://purl.obolibrary.org/obo/CHEBI_33655	A cyclically conjugated molecular entity with a stability (due to delocalization) significantly greater than that of a hypothetical localized structure (e.g. Kekule structure) is said to possess aromatic character.	
HGNC:2898	DLD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2898		
UBERON:0004448	distal epiphysis of phalanx	biolink:AnatomicalEntity	mondo			head of phalanx	http://purl.obolibrary.org/obo/UBERON_0004448	A distal epiphysis that is part of a phalanx [Automatically generated definition].	
HGNC:2897	DLC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2897		
UBERON:0004449	cerebral artery	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004449	One of three main pairs of arteries and their branches, which irrigate the cerebrum of the brain.	
HGNC:2896	DLAT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2896		
UBERON:0004446	epiphysis of phalanx	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004446	An epiphysis that is part of a phalanx [Automatically generated definition].	
CHEBI:18059	lipid	biolink:ChemicalSubstance	mondo			lipids|Lipid	http://purl.obolibrary.org/obo/CHEBI_18059	'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids.	
HGNC:2895	EDAR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2895		
UBERON:0004447	proximal epiphysis of phalanx	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004447	A proximal epiphysis that is part of a phalanx [Automatically generated definition].	
UBERON:0004444	proximal epiphysis of distal phalanx of manual digit 1	biolink:AnatomicalEntity	mondo			proximal epiphysis of distal phalanx of thumb|proximal epiphysis of distal phalanx of manual digit I|base of distal phalanx of thumb	http://purl.obolibrary.org/obo/UBERON_0004444	A proximal epiphysis that is part of a distal phalanx of manual digit 1 [Automatically generated definition].	
UBERON:0004445	proximal epiphysis of proximal phalanx of manual digit 1	biolink:AnatomicalEntity	mondo			proximal epiphysis of proximal phalanx of thumb|base of proximal phalanx of thumb|basal epiphysis of proximal phalanx of thumb|proximal epiphysis of proximal phalanx of manual digit I	http://purl.obolibrary.org/obo/UBERON_0004445	A proximal epiphysis that is part of a proximal phalanx of manual digit 1 [Automatically generated definition].	
UBERON:0004443	proximal epiphysis of proximal phalanx of manual digit 5	biolink:AnatomicalEntity	mondo			proximal epiphysis of proximal phalanx of manual digit V|proximal epiphysis of proximal phalanx of little finger|base of proximal phalanx of little finger|base of proximal phalanx of fifth finger|base of proximal phalanx of fifth digit of hand|basal epiphysis of proximal phalanx of little finger	http://purl.obolibrary.org/obo/UBERON_0004443	A proximal epiphysis that is part of a proximal phalanx of manual digit 5 [Automatically generated definition].	
MONDO:0007816	immune suppression	biolink:Disease	mondo	UMLS:C1840264|OMIM:146850		streptococcal cell wall antigen, suppression of immune response to|IS|Iscw|immune suppression|immune suppression; IS	http://purl.obolibrary.org/obo/MONDO_0007816		http://identifiers.org/omim/146850|UMLS:C1840264
MONDO:0007817	IgE responsiveness, atopic	biolink:Disease	mondo	OMIM:147050|NCIT:C3116|UMLS:C1840253		immediate hypersensitivity|type 1 hypersensitivity reaction|type I hypersensitivity|atopy, susceptibility to|IgE responsiveness, ATOPIC; IGER|IgE responsiveness, atopic|Atopic hypersensitivity|type I immediate hypersensitivity reaction|type I hypersensitivity reaction|type 1 hypersensitivity|Immunoglobulin E, basic level of, in serum|IgE response underlying allergic asthma and rhinitis|IgE, level of|IgE, elevated level of|IGER	http://purl.obolibrary.org/obo/MONDO_0007817	Immediate hypersensitivity reaction - type I reaction, involves immunoglobulin E (IgE)-mediated release of chemical mediators from mast cells and basophils. Th2 cells produce IL-4 and IL-13, which then act on B cells to promote the production of antigen-specific IgE. Reexposure to the antigen can then result in the antigen binding to and cross-linking the bound IgE antibodies on the mast cells and basophils. This causes the release of preformed mediators (histamine, tryptase, tryptase, chemotactic factors), newly synthesized mediators (leukotrienes, prostaglandin, thromboxane, platelet-activating factor, adenosine, bradykinin), and cytokines from these cells that results in structural and functional changes to the affected tissue.	NCIT:C3116|http://identifiers.org/omim/147050|UMLS:C1840253
MONDO:0007814	immune deficiency, familial variable	biolink:Disease	mondo	OMIM:146830|UMLS:C1840266|MESH:C564136|GARD:0002984	gard_rare	immune deficiency, familial variable	http://purl.obolibrary.org/obo/MONDO_0007814		MESH:C564136|UMLS:C1840266|http://identifiers.org/omim/146830
MONDO:0007815	immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist	biolink:Disease	mondo	OMIM:146840|UMLS:C1840265|MESH:C564135		immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist	http://purl.obolibrary.org/obo/MONDO_0007815		http://identifiers.org/omim/146840|MESH:C564135|UMLS:C1840265
MONDO:0007812	ichthyosis, lamellar, autosomal dominant	biolink:Disease	mondo	MESH:C537263|OMIM:146750|GARD:0009735|SCTID:254164007	gard_rare	lamellar ichthyosis, autosomal dominant|ichthyosis lamellar, autosomal dominant|ichthyosis, lamellar, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0007812		MESH:C537263|SNOMEDCT:254164007|http://identifiers.org/omim/146750
MONDO:0007813	ichthyosis bullosa of Siemens	biolink:Disease	mondo	DOID:0060877|GARD:0002966|OMIM:146800|ICD10:Q80.8|UMLS:C0432306|SCTID:254169002|MESH:D053560|NCIT:C84777|Orphanet:455	ordo_disease|gard_rare	ichthyosis bullosa of Siemens|bullous type of ichthyosis|superficial epidermolytic ichthyosis|ichthyosis bullosa of Siemens; IBS|SEI|ichthyosis exfoliativa|bullous type ichthyosis|ichthyosis, bullous type|IBS	http://purl.obolibrary.org/obo/MONDO_0007813	Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth.	SNOMEDCT:254169002|NCIT:C84777|ORPHA:455|UMLS:C0432306|MESH:D053560|DOID:0060877|http://identifiers.org/omim/146800
MONDO:0007810	autosomal dominant ichthyosis vulgaris	biolink:Disease	mondo	DOID:1702|OMIM:146700|GARD:0001897|ICD10:Q80.0|SCTID:254157005|UMLS:C0079584|MESH:D016112	gard_rare	dominant ichthyosis vulgaris|ichthyosis vulgaris|ichthyosis simplex|ichthyosis vulgaris, autosomal dominant|dominant congenital ichthyosiform erythroderma	http://purl.obolibrary.org/obo/MONDO_0007810	Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Treatment may include heavy duty moisturizers which contain chemicals that help the skin to shed normally, including lactic acid, salicylic acid, and urea. Ichthyosis vulgaris can be a nuisance, but it rarely affects overall health. The condition usually disappears during adulthood, but may return in later years. This condition is inherited in an autosomal dominant pattern.	UMLS:C0079584|http://identifiers.org/omim/146700|DOID:1702|SNOMEDCT:254157005|MESH:D016112
MONDO:0007811	ichthyosis-cheek-eyebrow syndrome	biolink:Disease	mondo	Orphanet:2267|GARD:0002947|SCTID:716097001|OMIM:146720|MESH:C536084	ordo_disease	Sidransky-Feinstein-Goodman syndrome|Sidransky Feinstein Goodman syndrome|ichthyosis cheek eyebrow syndrome|ichthyosis--cheek--eyebrow syndrome|Ice syndrome	http://purl.obolibrary.org/obo/MONDO_0007811	Ichthyosis-cheek-eyebrow syndrome is characterised by ichthyosis, prominent full cheeks and sparse lateral eyebrows. It has been described in several individuals from four generations of one family. Transmission is autosomal dominant.	ORPHA:2267|MESH:C536084|SNOMEDCT:716097001|UMLS:C1840283|http://identifiers.org/omim/146720
HGNC:2899	DLEC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2899		
UBERON:0016410	male breast	biolink:AnatomicalEntity	mondo			mamma masculina	http://purl.obolibrary.org/obo/UBERON_0016410	A breast that is part of a male organism.	
CHEBI:33661	monocyclic compound	biolink:ChemicalSubstance	mondo			monocyclic compounds	http://purl.obolibrary.org/obo/CHEBI_33661		
PATO:0002132	neoplastic, non-invasive	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0002132	A disposition inhering in a tumour by virtue of the bearer's disposition not to invade surrounding tissues.	
CHEBI:33662	annulene	biolink:ChemicalSubstance	mondo			annulenes|annulene	http://purl.obolibrary.org/obo/CHEBI_33662	A mancude monocyclic hydrocarbon without side chains of the general formula CnHn (n is an even number) or CnHn+1 (n is an odd number). In systematic nomenclature an annulene with seven or more carbon atoms may be named [n]annulene, where n is the number of carbon atoms.	
CHEBI:33663	cyclic hydrocarbon	biolink:ChemicalSubstance	mondo			cyclic hydrocarbons|cyclic hydrocarbon	http://purl.obolibrary.org/obo/CHEBI_33663		
CHEBI:33664	monocyclic hydrocarbon	biolink:ChemicalSubstance	mondo			monocyclic hydrocarbons|monocyclic hydrocarbon|monocyclic hydrocarbons	http://purl.obolibrary.org/obo/CHEBI_33664		
CHEBI:33666	polycyclic hydrocarbon	biolink:ChemicalSubstance	mondo			polycyclic hydrocarbon|polycyclic hydrocarbons	http://purl.obolibrary.org/obo/CHEBI_33666		
CHEBI:18049	piperidine	biolink:ChemicalSubstance	mondo			pentamethyleneamine|azinane|pip|Hexahydropyridine|Piperidine|piperidine|Azacyclohexane|pentamethyleneimine|cyclopentimine|pentamethylenimine	http://purl.obolibrary.org/obo/CHEBI_18049	An azacycloalkane that is cyclohexane in which one of the carbons is replaced by a nitrogen. It is a metabolite of cadaverine, a polyamine found in the human intestine.	
FOODON:00001109	caprine dairy food product	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00001109		
UBERON:0004435	proximal epiphysis of distal phalanx of manual digit 5	biolink:AnatomicalEntity	mondo			base of distal phalanx of fifth digit of hand|basal epiphysis of distal phalanx of little finger|base of distal phalanx of fifth finger|proximal epiphysis of distal phalanx of little finger|proximal epiphysis of distal phalanx of manual digit V|base of distal phalanx of little finger|basal epiphysis of distal phalanx of fifth finger	http://purl.obolibrary.org/obo/UBERON_0004435	A proximal epiphysis that is part of a distal phalanx of manual digit 5 [Automatically generated definition].	
FOODON:00001107	bovine dairy food product	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00001107		
MONDO:0007809	ichthyosis hystrix gravior	biolink:Disease	mondo	MESH:C536087|OMIM:146600|SCTID:254174005|GARD:0009497|Orphanet:79504|ICD9:757.39|ICD10:Q80.0	gard_rare|ordo_disease	Lambert type ichthyosis|ichthyosis, Lambert type|ichthyosis hystrix gravior|porcupine Man	http://purl.obolibrary.org/obo/MONDO_0007809		ORPHA:79504|SNOMEDCT:254174005|http://identifiers.org/omim/146600|MESH:C536087|UMLS:C0432311
MONDO:0007807	hypoxanthine guanine phosphoribosyltransferase suppressor	biolink:Disease	mondo	OMIM:146580		hypoxanthine guanine phosphoribosyltransferase suppressor	http://purl.obolibrary.org/obo/MONDO_0007807		http://identifiers.org/omim/146580
UBERON:0004431	proximal epiphysis of fifth metatarsal bone	biolink:AnatomicalEntity	mondo			base of fifth metatarsal bone|proximal epiphysis of metatarsal 5|proximal end of fifth metatarsal bone	http://purl.obolibrary.org/obo/UBERON_0004431	A proximal epiphysis that is part of a metatarsal bone of digit 5 [Automatically generated definition].	
MONDO:0007808	ichthyosis hystrix of Curth-Macklin	biolink:Disease	mondo	MESH:C536088|Orphanet:79503|ICD10:Q80.8|SCTID:254170001|UMLS:C1840296|ICD9:757.39|OMIM:146590|GARD:0002954	ordo_disease	IHCM|Curth-Macklin type ichthyosis hystrix|ichthyosis hystrix, Curth-Macklin type|ichthyosis HYSTRIX, Curth-Macklin type; IHCM|ichthyosis hystrix, Curth Macklin type|ichthyosis HYSTRIX, Curth-Macklin type	http://purl.obolibrary.org/obo/MONDO_0007808	Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK).	ORPHA:79503|UMLS:C1840296|http://identifiers.org/omim/146590|SNOMEDCT:254170001|MESH:C536088|UMLS:C0432307
GO:0007599	hemostasis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0007599	The stopping of bleeding (loss of body fluid) or the arrest of the circulation to an organ or part.	
HP:0100360	Contractures of the joints of the upper limbs	biolink:PhenotypicFeature	mondo	UMLS:C2750635			http://purl.obolibrary.org/obo/HP_0100360		
GO:0007596	blood coagulation	biolink:OntologyClass	mondo			blood clotting	http://purl.obolibrary.org/obo/GO_0007596	The sequential process in which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers.	
GO:0007595	lactation	biolink:OntologyClass	mondo			milk secretion	http://purl.obolibrary.org/obo/GO_0007595	The regulated release of milk from the mammary glands and the period of time that a mother lactates to feed her young.	
NCBITaxon:223472	Psoroptidia	organism taxon	mondo	GC_ID:1		Sarcoptidia	http://purl.obolibrary.org/obo/NCBITaxon_223472		
GO:0032543	mitochondrial translation	biolink:OntologyClass	mondo			mitochondrial protein anabolism|mitochondrial protein synthesis|mitochondrial protein formation|mitochondrial protein translation|mitochondrial protein biosynthesis	http://purl.obolibrary.org/obo/GO_0032543	The chemical reactions and pathways resulting in the formation of a protein in a mitochondrion. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein; the mitochondrion has its own ribosomes and transfer RNAs, and uses a genetic code that differs from the nuclear code.	
MONDO:0017093	unilateral focal polymicrogyria	biolink:Disease	mondo	ICD10:Q04.3|Orphanet:268947	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017093	Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement.	ORPHA:268947
MONDO:0017094	cerebral cortical dysplasia	biolink:Disease	mondo	ICD10:Q04.8|NCIT:C42088|MESH:D054220|SCTID:253153000|Orphanet:268950	ordo_group_of_disorders	cortical dysplasia|brain cortical dysplasia	http://purl.obolibrary.org/obo/MONDO_0017094	Abnormalities in the development of the cerebral cortex. These include malformations arising from abnormal neuronal and glial cell proliferation or apoptosis (Group I); abnormal neuronal migration (Group ii); and abnormal establishment of cortical organization (Group iii). Many inborn metabolic brain disorders affecting cns formation are often associated with cortical malformations. They are common causes of epilepsy and developmental delay.	SNOMEDCT:253153000|MESH:D054220|ORPHA:268950|NCIT:C42088
MONDO:0017095	isolated focal cortical dysplasia type I	biolink:Disease	mondo	ICD10:Q04.8|Orphanet:268961|UMLS:CN202452	ordo_clinical_subtype	FCD type I	http://purl.obolibrary.org/obo/MONDO_0017095		ORPHA:268961|UMLS:CN202452
HGNC:20376	SUMF1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20376		
MONDO:0017096	isolated focal cortical dysplasia type Ia	biolink:Disease	mondo	ICD10:Q04.8|Orphanet:268973|UMLS:CN202453	ordo_histopathological_subtype	FCD type Ia	http://purl.obolibrary.org/obo/MONDO_0017096		UMLS:CN202453|ORPHA:268973
MONDO:0017090	midline cerebral malformation	biolink:Disease	mondo	ICD10:Q04.8|Orphanet:268926	ordo_group_of_disorders	Midline brain malformation	http://purl.obolibrary.org/obo/MONDO_0017090		ORPHA:268926
MONDO:0017091	bilateral polymicrogyria	biolink:Disease	mondo	SCTID:765757003|ICD10:Q04.3|Orphanet:268940	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0017091	Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection.	ORPHA:268940|SNOMEDCT:765757003
MONDO:0017092	unilateral polymicrogyria	biolink:Disease	mondo	SCTID:715905006|Orphanet:268943|ICD10:Q04.3|UMLS:C4024960	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0017092	Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria.	ORPHA:268943|SNOMEDCT:715905006|UMLS:C4024960
HGNC:19380	RNU12	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19380		
HGNC:20371	NDUFA11	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20371		
HGNC:20372	NDUFB11	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20372		
HGNC:20373	SPG21	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20373		
NCBITaxon:2605435	Evosea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2605435		
MONDO:0017097	isolated focal cortical dysplasia type Ib	biolink:Disease	mondo	UMLS:CN202454|Orphanet:268980|ICD10:Q04.8	ordo_histopathological_subtype	FCD type IB	http://purl.obolibrary.org/obo/MONDO_0017097		UMLS:CN202454|ORPHA:268980
MONDO:0017098	isolated focal cortical dysplasia type Ic	biolink:Disease	mondo	Orphanet:268987|UMLS:CN202455|ICD10:Q04.8	ordo_histopathological_subtype	FCD type Ic	http://purl.obolibrary.org/obo/MONDO_0017098		UMLS:CN202455|ORPHA:268987
NCBITaxon:8287	Sarcopterygii	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_8287		
MONDO:0017099	obsolete facioscapulohumeral dystrophy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0017099		
MONDO:0017082	basal encephalocele	biolink:Disease	mondo	Orphanet:268829|ICD10:Q01.8|UMLS:C4023176	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017082		ORPHA:268829|UMLS:C4023176
MONDO:0017083	obsolete lipoma associated with neurospinal dysraphism	biolink:Disease	mondo	Orphanet:268832	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017083		ORPHA:268832
MONDO:0017084	leptomyelolipoma	biolink:Disease	mondo	Orphanet:268838	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0017084	Leptomyelolipoma is a rare neural tube closure defect characterized by an abnormally low lying conus which is tethered by a lumbosacral lipomatous mass (containing fatty tissue, nerve fibers, meningeal strands and fibrous bands) which engulfs the filum terminale and varying numbers of dorsal and ventral nerve root components, typically producing sensory, motor, bowel and/or bladder dysfunction. Cutaneous stigmata, absent or reduced reflexes and foot defomities (e.g. talipes cavovalgus) are frequently present.	ORPHA:268838
MONDO:0017085	obsolete malformation of the neurenteric canal, spinal cord and column	biolink:Disease	mondo	Orphanet:268843	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017085		ORPHA:268843
HGNC:20389	RETN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20389		
MONDO:0017080	occipital encephalocele	biolink:Disease	mondo	ICD10:Q01.2|Orphanet:268823|SCTID:42376006	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017080		SNOMEDCT:42376006|ORPHA:268823|UMLS:C0014067
GO:0007589	body fluid secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0007589	The controlled release of a fluid by a cell or tissue in an animal.	
MONDO:0017081	parietal encephalocele	biolink:Disease	mondo	SCTID:253109005|ICD10:Q01.8|Orphanet:268826	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017081		ORPHA:268826|UMLS:C0431294|SNOMEDCT:253109005
GO:0007588	excretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0007588	The elimination by an organism of the waste products that arise as a result of metabolic activity. These products include water, carbon dioxide (CO2), and nitrogenous compounds.	
GO:0007586	digestion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0007586	The whole of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism.	
GO:0007585	respiratory gaseous exchange by respiratory system	biolink:OntologyClass	mondo			breathing|respiration	http://purl.obolibrary.org/obo/GO_0007585	The process of gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms.	
GO:0007584	response to nutrient	biolink:OntologyClass	mondo			response to nutrients|nutritional response pathway	http://purl.obolibrary.org/obo/GO_0007584	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nutrient stimulus.	
MONDO:0017086	primary tethered cord syndrome	biolink:Disease	mondo	GARD:0004018|UMLS:CN202446|Orphanet:268861|SCTID:70534000	ordo_morphological_anomaly	segmental vertebral anomalies|primary tethered spinal cord syndrome|tethered cord syndrome|occult spinal dysraphism sequence|occult spinal dysraphism	http://purl.obolibrary.org/obo/MONDO_0017086	Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated.	UMLS:CN202446|ORPHA:268861|SNOMEDCT:70534000
MONDO:0017087	neurenteric cyst	biolink:Disease	mondo	Orphanet:268865	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0017087		UMLS:C0027806|ORPHA:268865
MONDO:0017088	isolated amyelia	biolink:Disease	mondo	Orphanet:268868|ICD10:Q06.0	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0017088		ORPHA:268868
MONDO:0017089	isolated megalencephaly	biolink:Disease	mondo	Orphanet:268920|ICD10:Q04.5	ordo_clinical_subtype	nonsyndromic megalencephaly (disease)|isolated megalencephaly (disease)|isolated macrencephaly	http://purl.obolibrary.org/obo/MONDO_0017089	A megalencephaly (disease) that is not part of a larger syndrome.	ORPHA:268920
MONDO:0044690	optic perineuritis	biolink:Disease	mondo	SCTID:713417000|UMLS:C4076165|Orphanet:499107	ordo_disease	OPN	http://purl.obolibrary.org/obo/MONDO_0044690		SNOMEDCT:713417000|ORPHA:499107|UMLS:C4076165
MONDO:0030049	46,xx sex reversal 5	biolink:Disease	mondo	OMIM:618901		SRXX5|46,xx sex reversal 5|46,XX SEX REVERSAL 5; SRXX5	http://purl.obolibrary.org/obo/MONDO_0030049		http://identifiers.org/omim/618901
MONDO:0044699	SIN3A-related intellectual disability syndrome	biolink:Disease	mondo	Orphanet:500163	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0044699		ORPHA:500163
MONDO:0044696	early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	biolink:Disease	mondo	UMLS:CN474476|OMIM:617669|Orphanet:500144	ordo_malformation_syndrome	encephalopathy, progressive, early-onset, with brain atrophy and spasticity|encephalopathy, progressive, early-onset, with brain atrophy and spasticity; PEBAS|PEBAS	http://purl.obolibrary.org/obo/MONDO_0044696		ORPHA:500144|http://identifiers.org/omim/617669|UMLS:CN474476
MONDO:0030051	intellectual developmental disorder with autistic features and language delay, with or without seizures	biolink:Disease	mondo	OMIM:618906		INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS|IDDALDS|intellectual developmental disorder with autistic features and language delay, with or without seizures	http://purl.obolibrary.org/obo/MONDO_0030051		http://identifiers.org/omim/618906
GO:0019538	protein metabolic process	biolink:OntologyClass	mondo			multicellular organismal protein metabolic process|protein metabolic process and modification|protein metabolism and modification|protein metabolism	http://purl.obolibrary.org/obo/GO_0019538	The chemical reactions and pathways involving a protein. Includes protein modification.	
MONDO:0030057	neurodevelopmental, jaw, eye, and digital syndrome	biolink:Disease	mondo	OMIM:618914		NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED|neurodevelopmental, jaw, eye, and digital syndrome|NEDJED	http://purl.obolibrary.org/obo/MONDO_0030057		http://identifiers.org/omim/618914
MONDO:0030056	fanconi renotubular syndrome 5	biolink:Disease	mondo	OMIM:618913		Fanconi Renotubular Syndrome, Acadian Variant|FANCONI RENOTUBULAR SYNDROME 5; FRTS5|FRTS5|fanconi renotubular syndrome 5	http://purl.obolibrary.org/obo/MONDO_0030056		http://identifiers.org/omim/618913
MONDO:0030059	developmental and epileptic encephalopathy, 87	biolink:Disease	mondo	OMIM:618916		EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 87; EIEE87|epileptic encephalopathy, early infantile, 87|DEE87|EIEE87	http://purl.obolibrary.org/obo/MONDO_0030059		http://identifiers.org/omim/618916
MONDO:0030058	deafness, autosomal dominant 77	biolink:Disease	mondo	OMIM:618915		DEAFNESS, AUTOSOMAL DOMINANT 77; DFNA77|DFNA77|deafness, autosomal dominant 77	http://purl.obolibrary.org/obo/MONDO_0030058		http://identifiers.org/omim/618915
UBERON:0004502	skeletal muscle tissue of biceps brachii	biolink:AnatomicalEntity	mondo			skeletal muscle tissue of biceps brachii muscle	http://purl.obolibrary.org/obo/UBERON_0004502	A portion of skeletal muscle tissue that is part of a biceps brachii [Automatically generated definition].	
HGNC:19368	HYDIN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19368		
MONDO:0030055	sorbitol dehydrogenase deficiency with peripheral neuropathy	biolink:Disease	mondo	OMIM:618912		Sorbitol Dehydrogenase Deficiency|SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD|sorbitol dehydrogenase deficiency with peripheral neuropathy|SORDD	http://purl.obolibrary.org/obo/MONDO_0030055		http://identifiers.org/omim/618912
MONDO:0030054	developmental and epileptic encephalopathy, 86	biolink:Disease	mondo	OMIM:618910		EIEE86|DEE86|epileptic encephalopathy, early infantile, 86|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 86; EIEE86	http://purl.obolibrary.org/obo/MONDO_0030054		http://identifiers.org/omim/618910
GO:0032504	multicellular organism reproduction	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0032504	The biological process in which new individuals are produced by one or two multicellular organisms. The new individuals inherit some proportion of their genetic material from the parent or parents.	
GO:0032502	developmental process	biolink:OntologyClass	mondo			single-organism developmental process|development	http://purl.obolibrary.org/obo/GO_0032502	A biological process whose specific outcome is the progression of an integrated living unit: an anatomical structure (which may be a subcellular structure, cell, tissue, or organ), or organism over time from an initial condition to a later condition.	
GO:0007568	aging	biolink:OntologyClass	mondo			ageing	http://purl.obolibrary.org/obo/GO_0007568	A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700).	
GO:0032501	multicellular organismal process	biolink:OntologyClass	mondo			single-multicellular organism process|organismal physiological process	http://purl.obolibrary.org/obo/GO_0032501	Any biological process, occurring at the level of a multicellular organism, pertinent to its function.	
GO:0007566	embryo implantation	biolink:OntologyClass	mondo			blastocyst implantation	http://purl.obolibrary.org/obo/GO_0007566	Attachment of the blastocyst to the uterine lining.	
GO:0007565	female pregnancy	biolink:OntologyClass	mondo			gestation|carrying of young	http://purl.obolibrary.org/obo/GO_0007565	The set of physiological processes that allow an embryo or foetus to develop within the body of a female animal. It covers the time from fertilization of a female ovum by a male spermatozoon until birth.	
MONDO:0030060	neurodevelopmental disorder with language impairment and behavioral abnormalities	biolink:Disease	mondo	OMIM:618917		neurodevelopmental disorder with language impairment and behavioral abnormalities|NEDLIB|NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB	http://purl.obolibrary.org/obo/MONDO_0030060		http://identifiers.org/omim/618917
MONDO:0030062	arrhythmogenic right ventricular dysplasia, familial, 14	biolink:Disease	mondo	OMIM:618920		ARVD14|arrhythmogenic right ventricular dysplasia, familial, 14|Arrhythmogenic Right Ventricular Cardiomyopathy 14|ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14	http://purl.obolibrary.org/obo/MONDO_0030062		http://identifiers.org/omim/618920
MONDO:0030061	periventricular nodular heterotopia 9	biolink:Disease	mondo	OMIM:618918		PVNH9|PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9|periventricular nodular heterotopia 9	http://purl.obolibrary.org/obo/MONDO_0030061		http://identifiers.org/omim/618918
MONDO:0030067	treacher collins syndrome 4	biolink:Disease	mondo	OMIM:618939		treacher collins syndrome 4|TREACHER COLLINS SYNDROME 4; TCS4|TCS4	http://purl.obolibrary.org/obo/MONDO_0030067		http://identifiers.org/omim/618939
MONDO:0030069	hyper-IgE recurrent infection syndrome 5, autosomal recessive	biolink:Disease	mondo	OMIM:618944		HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5|HIES5|hyper-IgE recurrent infection syndrome 5, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0030069		http://identifiers.org/omim/618944
MONDO:0030064	episodic ataxia, type 9	biolink:Disease	mondo	OMIM:618924		EPISODIC ATAXIA, TYPE 9; EA9|EA9|episodic ataxia, type 9	http://purl.obolibrary.org/obo/MONDO_0030064		http://identifiers.org/omim/618924
MONDO:0030063	neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	biolink:Disease	mondo	OMIM:618922		NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA|NEDSHBA|neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	http://purl.obolibrary.org/obo/MONDO_0030063		http://identifiers.org/omim/618922
MONDO:0030066	granulomatous disease, chronic, autosomal recessive, 5	biolink:Disease	mondo	OMIM:618935		granulomatous disease, chronic, autosomal recessive, 5|Granulomatous Disease, Chronic, Due to Cybc1 Deficiency|CGD5|GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5	http://purl.obolibrary.org/obo/MONDO_0030066		http://identifiers.org/omim/618935
MONDO:0030065	agenesis of corpus callosum, cardiac, ocular, and genital syndrome	biolink:Disease	mondo	OMIM:618929		AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS|ACOGS|agenesis of corpus callosum, cardiac, ocular, and genital syndrome	http://purl.obolibrary.org/obo/MONDO_0030065		http://identifiers.org/omim/618929
HGNC:20330	POMP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20330		
FOODON:03315150	mammalian milk product	biolink:OntologyClass	mondo	SUBSET_SIREN:F15150	"subset_siren"		http://purl.obolibrary.org/obo/FOODON_03315150		
MONDO:0030071	retinitis pigmentosa 89	biolink:Disease	mondo	OMIM:618955		RP89|retinitis pigmentosa 89|RETINITIS PIGMENTOSA 89; RP89	http://purl.obolibrary.org/obo/MONDO_0030071		http://identifiers.org/omim/618955
MONDO:0030070	heterotaxy, visceral, 9, autosomal, with male infertility	biolink:Disease	mondo	OMIM:618948		HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9|heterotaxy, visceral, 9, autosomal, with male infertility|HTX9	http://purl.obolibrary.org/obo/MONDO_0030070		http://identifiers.org/omim/618948
MONDO:0030073	Mitchell syndrome	biolink:Disease	mondo	OMIM:618960		Mitchell syndrome|MITCH|Mitchell syndrome; MITCH	http://purl.obolibrary.org/obo/MONDO_0030073		http://identifiers.org/omim/618960
MONDO:0030072	developmental and epileptic encephalopathy, 88	biolink:Disease	mondo	OMIM:618959		epileptic encephalopathy, early infantile, 88|DEE88|EIEE88|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 88; EIEE88	http://purl.obolibrary.org/obo/MONDO_0030072		http://identifiers.org/omim/618959
HGNC:19349	KIF21A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19349		
HGNC:2810	GSDME	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2810		
MONDO:0030074	spondylometaphyseal dysplasia with corneal dystrophy	biolink:Disease	mondo	OMIM:618961		SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD|spondylometaphyseal dysplasia with corneal dystrophy|SMDCD	http://purl.obolibrary.org/obo/MONDO_0030074		http://identifiers.org/omim/618961
MONDO:0030077	vertebral, cardiac, renal, and limb defects syndrome 3	biolink:Disease	mondo	OMIM:618845		Congenital Nad Deficiency Disorder 3|VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3|VCRL3|vertebral, cardiac, renal, and limb defects syndrome 3	http://purl.obolibrary.org/obo/MONDO_0030077		http://identifiers.org/omim/618845
CHEBI:57586	biotinate	biolink:ChemicalSubstance	mondo			biotin|5-[(3aS,4S,6aR)-2-oxohexahydro-1H-thieno[3,4-d]imidazol-4-yl]pentanoate|biotinate anion	http://purl.obolibrary.org/obo/CHEBI_57586	Conjugate base of biotin arising from deprotonation of the carboxy group.	
HGNC:19344	DENND5A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19344		
HGNC:19353	SIN3A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19353		
HGNC:20342	ZDHHC15	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20342		
HGNC:19351	BICC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19351		
GO:0007548	sex differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0007548	The establishment of the sex of an organism by physical differentiation.	
HGNC:20347	VIPAS39	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20347		
HGNC:20340	PRICKLE2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20340		
MONDO:0030089	diabetes mellitus, permanent neonatal 4	biolink:Disease	mondo	OMIM:618858		PNDM4|DIABETES MELLITUS, PERMANENT NEONATAL 4; PNDM4|diabetes mellitus, permanent neonatal 4	http://purl.obolibrary.org/obo/MONDO_0030089		http://identifiers.org/omim/618858
HGNC:19358	ALG12	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19358		
UBERON_CORE:anteriorly_connected_to	anteriorly connected to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/uberon/core#anteriorly_connected_to	x anteriorly_connected_to y iff the anterior part of x is connected to y. i.e. x connected_to y and x posterior_to y.	
MONDO:0030088	diabetes mellitus, permanent neonatal 3	biolink:Disease	mondo	OMIM:618857		PNDM3|DIABETES MELLITUS, PERMANENT NEONATAL 3; PNDM3|diabetes mellitus, permanent neonatal 3|Developmental Delay, Epilepsy, and Neonatal Diabetes 2	http://purl.obolibrary.org/obo/MONDO_0030088		http://identifiers.org/omim/618857
MONDO:0030087	diabetes mellitus, permanent neonatal 2	biolink:Disease	mondo	OMIM:618856		DIABETES MELLITUS, PERMANENT NEONATAL 2; PNDM2|PNDM2|diabetes mellitus, permanent neonatal 2|Developmental Delay, Epilepsy, and Neonatal Diabetes 1	http://purl.obolibrary.org/obo/MONDO_0030087		http://identifiers.org/omim/618856
MONDO:0019690	filamin-related bone disorder	biolink:Disease	mondo	Orphanet:93425|UMLS:CN227676	ordo_group_of_disorders	bone filaminopathy	http://purl.obolibrary.org/obo/MONDO_0019690		ORPHA:93425|UMLS:CN227676
MONDO:0030009	alopecia-mental retardation syndrome 4	biolink:Disease	mondo	OMIM:618840		alopecia-mental retardation syndrome 4|APMR4|alopecia-intellectual disability syndrome 4|ALOPECIA-MENTAL RETARDATION SYNDROME 4; APMR4	http://purl.obolibrary.org/obo/MONDO_0030009		http://identifiers.org/omim/618840
MONDO:0019692	multiple epiphyseal dysplasia and pseudoachondroplasia	biolink:Disease	mondo	Orphanet:93429|ICD10:Q78.8	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019692		ORPHA:93429
MONDO:0019691	short rib dysplasia	biolink:Disease	mondo	ICD10:Q77.2|Orphanet:93426|SCTID:254050009|ICD9:756.3	ordo_group_of_disorders	SRP|short-rib dysplasia (with or without polydactyly)|ciliopathies with major skeletal involvement	http://purl.obolibrary.org/obo/MONDO_0019691		ORPHA:93426|SNOMEDCT:254050009|UMLS:C0432195
MONDO:0017030	interstitial lung disease in childhood and adulthood	biolink:Disease	mondo	UMLS:CN202341|Orphanet:264757	ordo_group_of_disorders	ILD in childhood and adulthood	http://purl.obolibrary.org/obo/MONDO_0017030		ORPHA:264757|UMLS:CN202341
HGNC:20311	CHAMP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20311		
FOODON:03411059	shellfish or crustacean	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03411059	Shellfish is a food source and fisheries term for exoskeleton-bearing aquatic invertebrates used as food, including various species of molluscs, crustaceans, and echinoderms. Although most kinds of shellfish are harvested from saltwater environments, some kinds are found in freshwater. In addition, a few species of land crabs are eaten, for example *Cardisoma guanhumi* in the Caribbean. [https://en.wikipedia.org/wiki/Shellfish]	
MONDO:0030006	combined oxidative phosphorylation deficiency 40	biolink:Disease	mondo	Orphanet:570491|OMIM:618835		COXPD40|combined oxidative phosphorylation deficiency 40|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40	http://purl.obolibrary.org/obo/MONDO_0030006		http://identifiers.org/omim/618835|ORPHA:570491
MONDO:0032669	Diamond-Blackfan anemia 19	biolink:Disease	mondo	OMIM:618312		DIAMOND-BLACKFAN ANEMIA 19; DBA19	http://purl.obolibrary.org/obo/MONDO_0032669		http://identifiers.org/omim/618312
MONDO:0005049	intracranial hemorrhage	biolink:Disease	mondo	ICD9:432.9|EFO:0000551|UMLS:CN236663|MESH:D020300			http://purl.obolibrary.org/obo/MONDO_0005049	Bleeding within the cranium.	NCIT:C50438|UMLS:CN236663|MESH:D020300
MONDO:0030005	epilepsy, early-onset, with or without developmental delay	biolink:Disease	mondo	OMIM:618832		EPEDD|epilepsy, early-onset, with or without developmental delay|EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEDD	http://purl.obolibrary.org/obo/MONDO_0030005		http://identifiers.org/omim/618832
MONDO:0030008	combined oxidative phosphorylation deficiency 42	biolink:Disease	mondo	OMIM:618839		COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42|COXPD42|combined oxidative phosphorylation deficiency 42	http://purl.obolibrary.org/obo/MONDO_0030008		http://identifiers.org/omim/618839
MONDO:0032667	epidermodysplasia verruciformis, susceptibility to, 5	biolink:Disease	mondo	OMIM:618309		EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5	http://purl.obolibrary.org/obo/MONDO_0032667		http://identifiers.org/omim/618309
MONDO:0030007	combined oxidative phosphorylation deficiency 41	biolink:Disease	mondo	OMIM:618838		combined oxidative phosphorylation deficiency 41|COXPD41|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41	http://purl.obolibrary.org/obo/MONDO_0030007		http://identifiers.org/omim/618838
MONDO:0032668	Diamond-Blackfan anemia 18	biolink:Disease	mondo	OMIM:618310		DIAMOND-BLACKFAN ANEMIA 18; DBA18	http://purl.obolibrary.org/obo/MONDO_0032668		http://identifiers.org/omim/618310
MONDO:0005046	immune system disease	biolink:Disease	mondo	ICD9:279.9|ICD9:279.8|EFO:0000540|DOID:2914|NCIT:C3507|ICD9:279.4|MESH:D007154|ICD9:279.19|ICD9:279.1|ICD9:279.49|ICD9:279|ICD10:D89.9|SCTID:414029004|ICD9:279.10		disorder of immune system|immune disorder|immune disorder, NOS|disorder of immune system|disease or disorder of immune system|immune dysfunction|disease of immune system|immune system disease or disorder|immune system disorder|immune disease	http://purl.obolibrary.org/obo/MONDO_0005046	A disorder resulting from an abnormality in the immune system.	SNOMEDCT:414029004|MESH:D007154|DOID:2914|NCIT:C3507
MONDO:0020687	supratentorial ependymal tumor	biolink:Disease	mondo	NCIT:C131611		supratentorial ependymal tumor	http://purl.obolibrary.org/obo/MONDO_0020687	An ependymal tumor arising from the supratentorial region of the brain.	NCIT:C131611
MONDO:0005045	hypertrophic cardiomyopathy	biolink:Disease	mondo	UMLS:C0007194|Orphanet:217569|ICD9:425.4|NCIT:C34449|OMIMPS:192600|COHD:4124693|KEGG:05410|EFO:0000538|DOID:11984|MESH:D002312|MedDRA:10020871|SCTID:233873004|ICD9:425.11|ICD10:I42.1|ICD9:425.1	clingen|ordo_group_of_disorders	obstructive hypertrophic cardiomyopathy|HCM - hypertrophic cardiomyopathy|familial hypertrophic cardiomyopathy|hypertrophic subaortic stenosis|hypertrophic cardiomyopathy|hypertrophic obstructive cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0005045	A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.	UMLS:C0007194|MEDDRA:10020871|ORPHA:217569|DOID:11984|SNOMEDCT:233873004|MESH:D002312|NCIT:C34449
MONDO:0020686	acute tonsillitis	biolink:Disease	mondo	ICD9:463|UMLS:C0001361|NCIT:C97142|SCTID:17741008		acute tonsillitis|acute adenoiditis|infective tonsillitis	http://purl.obolibrary.org/obo/MONDO_0020686	An acute inflammation of the tonsils caused by viruses or bacteria. Signs and symptoms include fever, enlargement of the tonsils, difficulty swallowing, and enlargement of the regional lymph nodes.	SNOMEDCT:17741008|UMLS:C0001361|NCIT:C97142
MONDO:0044656	epidermolytic nevus	biolink:Disease	mondo	UMLS:C1302848|SCTID:400142003|Orphanet:497737	ordo_disease	epidermolytic epidermal nevus|epidermolytic verrucous epidermal nevus|Epidermal nevus with epidermolytic hyperkeratosis	http://purl.obolibrary.org/obo/MONDO_0044656		ORPHA:497737|UMLS:C1302848|SNOMEDCT:400142003
MONDO:0005048	pancreatic insulin-producing neuroendocrine tumor	biolink:Disease	mondo	NCIT:C3140|Orphanet:97279|ICDO:8151/1|ICDO:8151/0		pancreatic insulin-producing neuroendocrine tumor|Beta cell tumor|insulin-producing tumor of the islet cells|insulin-producing tumor of islet cells|pancreatic insulin-producing tumor|pancreatic insulin producing tumor|pancreatic insulin producing NET|pancreatic insulin producing neoplasm|pancreatic Beta cell tumor|insulin-producing islet cell tumor|Beta cell tumor of pancreas|beta cell neoplasm|beta cell tumor of the pancreas|Beta cell tumor of the pancreas	http://purl.obolibrary.org/obo/MONDO_0005048	An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. It may or may not be associated with inappropriate secretion of insulin and an associated clinical syndrome.	ORPHA:97279|UMLS:C0021670|NCIT:C3140
MONDO:0020685	infratentorial ependymal tumor	biolink:Disease	mondo	NCIT:C131612		infratentorial ependymal tumor	http://purl.obolibrary.org/obo/MONDO_0020685	An ependymal tumor arising from the infratentorial region of the brain.	NCIT:C131612
MONDO:0005047	infertility disorder	biolink:Disease	mondo	MESH:D007246|NCIT:C3836|DOID:5223|EFO:0000545	clingen	infertility|fertility disorders|sterility|infertile|Sterile|sterile	http://purl.obolibrary.org/obo/MONDO_0005047	Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues.	MESH:D007246|NCIT:C3836|DOID:5223
MONDO:0020684	Ehlers-Danlos syndrome, periodontal type 1	biolink:Disease	mondo	OMIM:130080		EDS 8|Ehlers-Danlos syndrome, periodontal type, 1|Ehlers-Danlos syndrome, periodontal type, 1; EDSPD1|Ehlers-Danlos syndrome, type 8|Ehlers-Danlos syndrome, periodontitis type|EDSPD1|Ehlers-Danlos syndrome, periodontosis type	http://purl.obolibrary.org/obo/MONDO_0020684		http://identifiers.org/omim/130080
MONDO:0044655	c12orf65-related combined oxidative phosphorylation defect	biolink:Disease	mondo	Orphanet:497623	ordo_group_of_disorders	C12ORF65-related COXPD	http://purl.obolibrary.org/obo/MONDO_0044655		ORPHA:497623
HGNC:10989	SLC25A3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10989		
MONDO:0020683	acute disease	biolink:Disease	mondo	UMLS:C0001314|ICD9:799.89|MESH:D000208|SCTID:2704003		acute Disease|Disease, Acute|acute Diseases|acute disease|acute disease|Diseases, Acute	http://purl.obolibrary.org/obo/MONDO_0020683	Disease having a short and relatively severe course.	UMLS:C0001314|MESH:D000208|SNOMEDCT:2704003
MONDO:0005042	head disease	biolink:Disease	mondo	EFO:0000524|UMLS:C1290856|SCTID:118934005		head disease or disorder|disorder of head|disease of head|disorder of head|disease or disorder of head|head disease	http://purl.obolibrary.org/obo/MONDO_0005042	A disease involving the head.	UMLS:C1290856|SNOMEDCT:118934005
MONDO:0005041	glaucoma (disease)	biolink:Disease	mondo	ICD10:H40|SCTID:23986001|HP:0000501|NCIT:C26782|ICD10:H40.9|ICD10:H40-H42|COHD:437541|ICD10:H40.H42|MESH:D005901|ICD9:365.89|ICD9:365|ICD9:365.9|EFO:0000516|DOID:1686|UMLS:C0017601		glaucoma	http://purl.obolibrary.org/obo/MONDO_0005041	Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor.	DOID:1686|UMLS:C0017601|NCIT:C26782|MESH:D005901|SNOMEDCT:23986001
MONDO:0020682	Ehlers-Danlos syndrome, progeroid type 1	biolink:Disease	mondo	OMIM:130070		xylosylprotein 4-Beta-galactosyltransferase deficiency|EDSSPD1|proteodermatan sulfate, defective biosynthesis of|dermatan sulfate proteoglycan|Ehlers-Danlos syndrome, spondylodysplastic type, 1; EDSSPD1|Ehlers-Danlos syndrome with Short stature and Limb anomalies|galactosyltransferase 1 deficiency|Xgpt deficiency|Ehlers-Danlos syndrome, progeroid type, 1, formerly|Ehlers-Danlos syndrome, progeroid type, 1|Pds, defective biosynthesis of	http://purl.obolibrary.org/obo/MONDO_0020682		http://identifiers.org/omim/130070
MONDO:0020681	Ehlers-Danlos syndrome, musculocontractural type 1	biolink:Disease	mondo	OMIM:601776|NCIT:C168975		EDSMC|Arthrogryposis, Distal, with peculiar facies and hydronephrosis|Ehlers-Danlos syndrome, type Vib|EDSMC1|adducted thumb-clubfoot syndrome|Dundar syndrome|adducted thumb, clubfoot, and Progressive Joint and skin laxity syndrome|Ehlers-Danlos syndrome, musculocontractural type, 1; EDSMC1|Ehlers-Danlos syndrome, type Vib, formerly	http://purl.obolibrary.org/obo/MONDO_0020681		http://identifiers.org/omim/601776|NCIT:C168975
MONDO:0005044	hypertensive disorder	biolink:Disease	mondo	UMLS:C0020538|ICD9:401-405.99|SCTID:38341003|ICD9:997.91|ICD10:I10|DOID:10763|EFO:0000537|ICD10:I10-I15|ICD10:I15|NCIT:C3117|MESH:D006973|HP:0000822		increased blood pressure|HTN|vascular hypertensive disorder|pressure, high blood|high blood pressure|blood pressure, increased|hypertensive disease|blood pressure, high|hypertension|hyperpiesia	http://purl.obolibrary.org/obo/MONDO_0005044	Persistently high systemic arterial blood pressure. Based on multiple readings (blood pressure determination), hypertension is currently defined as when systolic pressure is consistently greater than 140 mm Hg or when diastolic pressure is consistently 90 mm Hg or more.	MESH:D006973|NCIT:C3117|SNOMEDCT:38341003|DOID:10763|UMLS:C0020538
MONDO:0044652	optic atrophy-peripheral neuropathy-developmental delay syndrome	biolink:Disease	mondo	Orphanet:496790	ordo_disease	Harel-Yoon syndrome	http://purl.obolibrary.org/obo/MONDO_0044652		ORPHA:496790
MONDO:0005043	hyperplasia	biolink:Disease	mondo	MESH:D006965|EFO:0000536|NCIT:C3113		hyperplastic|hyperplasia	http://purl.obolibrary.org/obo/MONDO_0005043	An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement.	MESH:D006965|NCIT:C3113
MONDO:0020680	acute bronchiolitis	biolink:Disease	mondo	SCTID:5505005|UMLS:C0001311|NCIT:C39659|ICD9:466.19|ICD9:466.1		acute bronchiolitis|capillary pneumonia|acute capillary bronchiolitis|acute bronchiolitis|acute Bronchiolitis|Capillary pneumonia	http://purl.obolibrary.org/obo/MONDO_0020680	Acute inflammation of the bronchioles usually caused by the respiratory syncytial virus.	SNOMEDCT:5505005|UMLS:C0001311|NCIT:C39659
MONDO:0044651	early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome	biolink:Disease	mondo	Orphanet:496756	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0044651		ORPHA:496756
HGNC:10993	SLC26A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10993		
HGNC:10994	SLC26A2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10994		
MONDO:0005040	germ cell tumor	biolink:Disease	mondo	DOID:2994|NCIT:C3708|GARD:0013022|UMLS:C0205851|EFO:0000514	gard_rare	malignant tumor of the germ cell|neoplasm of the germ cell|germ cells tumors|neoplasm of germ cell|germ cell tumor|germ cell neoplasm|tumor of the germ cell|tumor of germ cell|germ cell tumour|germ cell cancer	http://purl.obolibrary.org/obo/MONDO_0005040	A benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor.	UMLS:C0205851|DOID:2994|NCIT:C3708
MONDO:0017039	drug or radiation exposure-related interstitial lung disease	biolink:Disease	mondo	ICD10:J70.4|ICD10:J70.3|ICD10:J70.2|ICD10:J70.1|UMLS:CN202350|ICD10:J70.0|Orphanet:264978	ordo_clinical_situation		http://purl.obolibrary.org/obo/MONDO_0017039		ORPHA:264978|UMLS:CN202350
MONDO:0044647	kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome	biolink:Disease	mondo	Orphanet:496686	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0044647		ORPHA:496686
MONDO:0044646	early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	biolink:Disease	mondo	OMIM:617193|Orphanet:496641|UMLS:C4310671	ordo_malformation_syndrome	encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum; PEBAT|encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum|PEBAT	http://purl.obolibrary.org/obo/MONDO_0044646		UMLS:C4310671|ORPHA:496641|http://identifiers.org/omim/617193
MONDO:0020679	conductive hearing loss disorder	biolink:Disease	mondo	SCTID:44057004|NCIT:C27645		conductive deafness|conductive hearing loss|conductive deafness	http://purl.obolibrary.org/obo/MONDO_0020679	Hearing loss caused by impaired transmission of signals from the external auditory canal or middle ear to the cochlea.	NCIT:C27645|SNOMEDCT:44057004
HGNC:10998	SLC27A4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10998		
MONDO:0044649	omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome	biolink:Disease	mondo	Orphanet:496693	ordo_malformation_syndrome	Gershoni-Baruch syndrome	http://purl.obolibrary.org/obo/MONDO_0044649		ORPHA:496693
MONDO:0020678	sensorineural hearing loss disorder	biolink:Disease	mondo	SCTID:60700002|NCIT:C26739|HP:0000407		neurosensory deafness|sensorineural hearing loss|sensorineural deafness|SNHL	http://purl.obolibrary.org/obo/MONDO_0020678	Hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII).	SNOMEDCT:60700002|NCIT:C26739
MONDO:0020677	sudden hearing loss disorder	biolink:Disease	mondo	SCTID:79471008			http://purl.obolibrary.org/obo/MONDO_0020677		SNOMEDCT:79471008
MONDO:0044648	kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	biolink:Disease	mondo	Orphanet:496689	ordo_disease	kyphoscoliosis-lateral tongue atrophy-HSP syndrome	http://purl.obolibrary.org/obo/MONDO_0044648		ORPHA:496689
MONDO:0030013	immunodeficiency 66	biolink:Disease	mondo	OMIM:618847		immunodeficiency 66|IMD66|IMMUNODEFICIENCY 66; IMD66	http://purl.obolibrary.org/obo/MONDO_0030013		http://identifiers.org/omim/618847
MONDO:0017035	secondary interstitial lung disease in childhood and adulthood associated with a systemic disease	biolink:Disease	mondo	Orphanet:264949|UMLS:CN202347	ordo_group_of_disorders	secondary ILD in childhood and adulthood associated with a systemic disease	http://purl.obolibrary.org/obo/MONDO_0017035		ORPHA:264949|UMLS:CN202347
MONDO:0019698	bent bone dysplasia	biolink:Disease	mondo	UMLS:C0432238|Orphanet:93439|SCTID:254095002|ICD9:756.59	ordo_group_of_disorders	campomelic dysplasia and related disorders	http://purl.obolibrary.org/obo/MONDO_0019698		UMLS:C0432238|ORPHA:93439|SNOMEDCT:254095002
HP:0002094	Dyspnea	biolink:PhenotypicFeature	mondo	MSH:D004417|SNOMEDCT_US:267036007|UMLS:C0013404|SNOMEDCT_US:230145002		Difficult to breathe|Dyspnoea|Trouble breathing|Abnormal breathing|Breathing difficulty	http://purl.obolibrary.org/obo/HP_0002094	Difficult or labored breathing.	
HGNC:20305	SLC34A3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20305		
MONDO:0030012	Diets-Jongmans syndrome	biolink:Disease	mondo	OMIM:618846		DIJOS|DIETS-JONGMANS SYNDROME; DIJOS|Intellectual Developmental Disorder With Distinctive Facial Dysmorphism|diets-jongmans syndrome	http://purl.obolibrary.org/obo/MONDO_0030012		http://identifiers.org/omim/618846
MONDO:0032677	lissencephaly 9 with complex brainstem malformation	biolink:Disease	mondo	Orphanet:572013|OMIM:618325		LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION; LIS9	http://purl.obolibrary.org/obo/MONDO_0032677		ORPHA:572013|http://identifiers.org/omim/618325
MONDO:0019697	mesomelic and rhizo-mesomelic dysplasia	biolink:Disease	mondo	Orphanet:93438|UMLS:CN229208	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019697		UMLS:CN229208|ORPHA:93438
MONDO:0017036	Langerhans cell histiocytosis in childhood and adulthood	biolink:Disease	mondo	Orphanet:264955	ordo_group_of_disorders	Langerhans cell granulomatosis in childhood and adulthood|histiocytosis X in childhood and adulthood	http://purl.obolibrary.org/obo/MONDO_0017036		ORPHA:264955
MONDO:0017037	secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease	biolink:Disease	mondo	Orphanet:264968|UMLS:CN202348	ordo_group_of_disorders	secondary ILD in childhood and adulthood associated with a metabolic disease	http://purl.obolibrary.org/obo/MONDO_0017037		ORPHA:264968|UMLS:CN202348
MONDO:0030015	bone marrow failure syndrome 6	biolink:Disease	mondo	OMIM:618849		BMFS6|bone marrow failure syndrome 6|BONE MARROW FAILURE SYNDROME 6; BMFS6	http://purl.obolibrary.org/obo/MONDO_0030015		http://identifiers.org/omim/618849
MONDO:0017038	secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis	biolink:Disease	mondo	UMLS:CN202349|Orphanet:264973	ordo_group_of_disorders	secondary ILD in childhood and adulthood associated with a systemic vasculitis	http://purl.obolibrary.org/obo/MONDO_0017038		ORPHA:264973|UMLS:CN202349
HP:0002093	Respiratory insufficiency	biolink:PhenotypicFeature	mondo	UMLS:C4020855|SNOMEDCT_US:409623005|UMLS:C0035229|MSH:D012131		Respiratory function loss|progressive respiratory failure|Respiratory impairment	http://purl.obolibrary.org/obo/HP_0002093		
MONDO:0030014	muscular dystrophy, limb-girdle, autosomal recessive 26	biolink:Disease	mondo	OMIM:618848		muscular dystrophy, limb-girdle, autosomal recessive 26|LGMDR26|MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26	http://purl.obolibrary.org/obo/MONDO_0030014		http://identifiers.org/omim/618848
MONDO:0019699	slender bone dysplasia	biolink:Disease	mondo	Orphanet:93440	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019699		ORPHA:93440
MONDO:0032675	myasthenic syndrome, congenital, 25, presynaptic	biolink:Disease	mondo	OMIM:618323		MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC; CMS25	http://purl.obolibrary.org/obo/MONDO_0032675		http://identifiers.org/omim/618323
MONDO:0032672	intellectual developmental disorder with cardiac defects and dysmorphic facies	biolink:Disease	mondo	Orphanet:562569|OMIM:618316		INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES; IDDCDF	http://purl.obolibrary.org/obo/MONDO_0032672		ORPHA:562569|http://identifiers.org/omim/618316
MONDO:0017031	primary interstitial lung disease in childhood and adulthood	biolink:Disease	mondo	UMLS:CN202342|Orphanet:264762	ordo_group_of_disorders	primary ILD in childhood and adulthood	http://purl.obolibrary.org/obo/MONDO_0017031		ORPHA:264762|UMLS:CN202342
HP:0002098	Respiratory distress	biolink:PhenotypicFeature	mondo	UMLS:C0476273|MSH:D004417|SNOMEDCT_US:267036007|SNOMEDCT_US:271825005|UMLS:C0013404|SNOMEDCT_US:230145002		Short of breath|Difficulty breathing|Respiratory difficulties|Breathing difficulties|Shortness of breath	http://purl.obolibrary.org/obo/HP_0002098	Difficulty in breathing. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.	
MONDO:0019694	spondylodysplastic dysplasia	biolink:Disease	mondo	Orphanet:93434	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019694		ORPHA:93434
MONDO:0019693	multiple metaphyseal dysplasia	biolink:Disease	mondo	ICD10:Q78.5|Orphanet:93430	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019693		ORPHA:93430
HP:0002099	Asthma	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:991000119106|UMLS:C3714497|MSH:D001249|UMLS:C0004096|SNOMEDCT_US:195967001		Bronchial asthma|Reactive airway disease|Asthma	http://purl.obolibrary.org/obo/HP_0002099	Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.	
MONDO:0017032	primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder	biolink:Disease	mondo	Orphanet:264930|UMLS:CN202344	ordo_group_of_disorders	primary ILD in childhood and adulthood due to alveolar structure disorder	http://purl.obolibrary.org/obo/MONDO_0017032		ORPHA:264930|UMLS:CN202344
MONDO:0032673	basal ganglia calcification, idiopathic, 7, autosomal recessive	biolink:Disease	mondo	OMIM:618317		BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE; IBGC7	http://purl.obolibrary.org/obo/MONDO_0032673		http://identifiers.org/omim/618317
HGNC:10990	SLC25A4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10990		
MONDO:0019696	acromesomelic dysplasia	biolink:Disease	mondo	Orphanet:93437|MESH:C535658|DOID:0080049|GARD:0000006	ordo_group_of_disorders|gard_rare	acromesomelic dwarfism	http://purl.obolibrary.org/obo/MONDO_0019696	Acromesomelic dysplasia describes a group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type	MESH:C535658|ORPHA:93437|DOID:0080049|UMLS:C0265278
MONDO:0017033	primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder	biolink:Disease	mondo	Orphanet:264935|UMLS:CN202345	ordo_group_of_disorders	primary ILD in childhood and adulthood due to alveolar vascular disorder	http://purl.obolibrary.org/obo/MONDO_0017033		ORPHA:264935|UMLS:CN202345
MONDO:0032670	Diamond-Blackfan anemia 20	biolink:Disease	mondo	OMIM:618313		DIAMOND-BLACKFAN ANEMIA 20; DBA20	http://purl.obolibrary.org/obo/MONDO_0032670		http://identifiers.org/omim/618313
HGNC:19321	NKX6-2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19321		
MONDO:0019695	acromelic dysplasia	biolink:Disease	mondo	ICD10:Q74.8|Orphanet:93436	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019695		ORPHA:93436
MONDO:0030010	hypogonadotropic hypogonadism 25 with anosmia	biolink:Disease	mondo	OMIM:618841		hypogonadotropic hypogonadism 25 with anosmia|HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25|HH25	http://purl.obolibrary.org/obo/MONDO_0030010		http://identifiers.org/omim/618841
MONDO:0017034	secondary interstitial lung disease in childhood and adulthood	biolink:Disease	mondo	Orphanet:264944|UMLS:CN202346	ordo_group_of_disorders	secondary ILD in childhood and adulthood	http://purl.obolibrary.org/obo/MONDO_0017034		ORPHA:264944|UMLS:CN202346
HGNC:19331	MMAB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19331		
MONDO:0019681	juvenile sialidosis type 2	biolink:Disease	mondo	SCTID:111383007|ICD10:E77.1|UMLS:C0268229|UMLS:CN206605|Orphanet:93399	ordo_clinical_subtype	dysmorphic sialidosis, juvenile form	http://purl.obolibrary.org/obo/MONDO_0019681		UMLS:CN206605|ORPHA:93399|UMLS:C0268229|SNOMEDCT:111383007
MONDO:0019680	genochondromatosis type 2	biolink:Disease	mondo	SCTID:725904009|UMLS:CN206604|Orphanet:93398|UMLS:C4511481	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019680	Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign.	UMLS:CN206604|UMLS:C4511481|ORPHA:93398|SNOMEDCT:725904009
HGNC:22986	COL27A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/22986		
MONDO:0030017	combined oxidative phosphorylation deficiency 43	biolink:Disease	mondo	OMIM:618851		combined oxidative phosphorylation deficiency 43|COXPD43|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43	http://purl.obolibrary.org/obo/MONDO_0030017		http://identifiers.org/omim/618851
HGNC:20323	SMOC2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20323		
MONDO:0030016		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0030016		
HGNC:20324	TGDS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20324		
MONDO:0032678	developmental and epileptic encephalopathy, 71	biolink:Disease	mondo	OMIM:618328		epileptic encephalopathy, early infantile, 71|Glutaminase Deficiency With Neonatal Epileptic Encephalopathy|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 71; EIEE71|DEE71	http://purl.obolibrary.org/obo/MONDO_0032678		http://identifiers.org/omim/618328
MONDO:0030019	anauxetic dysplasia 3	biolink:Disease	mondo	OMIM:618853		anauxetic dysplasia 3|ANXD3|ANAUXETIC DYSPLASIA 3; ANXD3	http://purl.obolibrary.org/obo/MONDO_0030019		http://identifiers.org/omim/618853
MONDO:0032679	combined oxidative phosphorylation deficiency 37	biolink:Disease	mondo	DOID:0111499|OMIM:618329		COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37	http://purl.obolibrary.org/obo/MONDO_0032679		DOID:0111499|http://identifiers.org/omim/618329
MONDO:0030018	autoinflammation with episodic fever and lymphadenopathy	biolink:Disease	mondo	OMIM:618852		Cleavage-Resistant Ripk1-Induced Autoinflammatory Syndrome|autoinflammation with episodic fever and lymphadenopathy|AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL|AIEFL|Cria Syndrome	http://purl.obolibrary.org/obo/MONDO_0030018		http://identifiers.org/omim/618852
MONDO:0005057	large cell neuroendocrine carcinoma	biolink:Disease	mondo	UMLS:C1265996|ICDO:8013/3|ONCOTREE:LUNE|NCIT:C6875|DOID:0050872|EFO:0000563		large cell NEC|LCNEC|large-cell neuroendocrine carcinoma|large cell neuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0005057	A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas.	DOID:0050872|UMLS:C1265996|NCIT:C6875
MONDO:0020676	disease of central nervous system or retinal vasculature	biolink:Disease	mondo			central nervous system or retinal vascular disease|retina/CNS vascular disease	http://purl.obolibrary.org/obo/MONDO_0020676		
MONDO:0029001	chemically-induced disorder	biolink:Disease	mondo	MESH:D064419		chemically-induced disorder|disorders, chemically-induced|disorder, chemically-induced|chemically induced disorders	http://purl.obolibrary.org/obo/MONDO_0029001	Disorders caused by the intentional or unintentional ingestion or exposure to chemical substances such as pharmaceutical preparations; noxae; and pesticides.	MESH:D064419
MONDO:0005056	keratinizing squamous cell carcinoma	biolink:Disease	mondo	UMLS:C0334247|DOID:5521|EFO:0000559|ICDO:8071/3|NCIT:C4105		keratinizing epidermoid carcinoma|squamous cell carcinoma, keratinizing|keratinizing squamous cell carcinoma|squamous cell carcinoma, keratinizing (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0005056	Squamous cell carcinomas with morphologically prominent production of keratin.	NCIT:C4105|UMLS:C0334247|DOID:5521
MONDO:0020675	ischemic bowel disease	biolink:Disease	mondo	NCIT:C35212		ischemic bowel disease	http://purl.obolibrary.org/obo/MONDO_0020675	Disease of the large or small intestine that is caused by inadequate blood supply.	NCIT:C35212
MONDO:0005059	leukemia (disease)	biolink:Disease	mondo	UMLS:C0023418|ICD10:C95|ICD10:C95.9|ICD9:208|HP:0001909|NCIT:C3161|ICD9:207|ICDO:9800/3|ICD10:C95.90|MESH:D007938|SCTID:93143009|ICD9:208.90|ICD9:208.9|ICD9:208.8|ICD9:207.80|ICD9:207.8|DOID:1240|EFO:0000565|ICD9:208.80		leukemia NOS|leukemia, malignant|leukemia, NOS|leukemia, disease|blood (leukemia)|leukemias|leukemia|leukemias, general	http://purl.obolibrary.org/obo/MONDO_0005059	A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years.	UMLS:C0023418|MESH:D007938|DOID:1240|NCIT:C3161|SNOMEDCT:93143009
MONDO:0029000	poisoning	biolink:Disease	mondo	UMLS:C0302332|MESH:D011041|EFO:0008546|SCTID:75478009		intoxication|Poisonings|poisoning syndrome	http://purl.obolibrary.org/obo/MONDO_0029000	A condition or physical state produced by the ingestion, injection, inhalation of or exposure to a deleterious agent.	SNOMEDCT:75478009|MESH:D011041|UMLS:C0302332
MONDO:0020674	vascular insufficiency disorder	biolink:Disease	mondo	SCTID:86341008		vascular insufficiency	http://purl.obolibrary.org/obo/MONDO_0020674		SNOMEDCT:86341008
MONDO:0020673	arterial occlusion	biolink:Disease	mondo	NCIT:C35318		arterial obstruction|arterial occlusion	http://purl.obolibrary.org/obo/MONDO_0020673	Complete closure of the normally patent lumen of the blood vessels which carry blood away from the heart.	NCIT:C35318
MONDO:0005058	leiomyosarcoma	biolink:Disease	mondo	DOID:1967|Orphanet:64720|ICD10:C49.9|ONCOTREE:LMS|MESH:D007890|ICDO:8890/3|GARD:0006880|ICD9:171.9|SCTID:443719001|UMLS:C0023269|NCIT:C3158|EFO:0000564|MedDRA:10024189	gard_rare|ordo_disease	leiomyosarcoma - not uterine|leiomyosarcoma|leiomyosarcoma (excluding uterine leiomyosarcoma)|leiomyosarcoma, malignant|Leiomyosarcomas	http://purl.obolibrary.org/obo/MONDO_0005058	An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas.	SNOMEDCT:443719001|UMLS:C0023269|MESH:D007890|DOID:1967|ORPHA:64720|NCIT:C3158|MEDDRA:10024189
MONDO:0005053	ischemic disease	biolink:Disease	mondo	MESH:D007511|DOID:326|SCTID:52674009|EFO:0000556|NCIT:C34738		ischemia	http://purl.obolibrary.org/obo/MONDO_0005053	Lack of blood supply to an area of the body, resulting in impairment of tissue oxygenation.	SNOMEDCT:52674009|DOID:326|NCIT:C34738|MESH:D007511
MONDO:0020672	vascular occlusion disorder	biolink:Disease	mondo			vascular occlusion	http://purl.obolibrary.org/obo/MONDO_0020672	A disorder characterized by occlusion of blood vessels. It differs from thrombosis in that it can be used to describe any form of blockage, not just one formed by a clot.	
MONDO:0020671	susceptibility to ischemic stroke	biolink:Disease	mondo	OMIM:601367	predisposition	stroke, ischemic|cerebral infarction|cerebrovascular accident	http://purl.obolibrary.org/obo/MONDO_0020671		http://identifiers.org/omim/601367
MONDO:0044660	menstrual cycle-dependent periodic fever	biolink:Disease	mondo	OMIM:614674|Orphanet:498251|UMLS:C3553418	ordo_disease	periodic fever, menstrual cycle-dependent|menstrual cycle-dependent febrile episode|luteal-phase-dependent periodic fever|luteal-phase-dependent febrile episode	http://purl.obolibrary.org/obo/MONDO_0044660		http://identifiers.org/omim/614674|UMLS:C3553418|ORPHA:498251
MONDO:0005052	irritable bowel syndrome	biolink:Disease	mondo	UMLS:C0022104|ICD10:K58|ICD9:564.1|MESH:D043183|ICD10:K58.9|DOID:9778|NCIT:C82343|EFO:0000555|SCTID:10743008|COHD:75576		psychogenic IBS|IBD|irritable bowel syndrome|IBS|irritable colon|mucus colitis|spastic colon	http://purl.obolibrary.org/obo/MONDO_0005052	Gastrointestinal symptoms characterized by chronic abdominal pain and altered bowel habits in the absence of any organic cause.	UMLS:C0022104|DOID:9778|NCIT:C82343|MESH:D043183|SNOMEDCT:10743008
MONDO:0005055	Kaposi's sarcoma (disease)	biolink:Disease	mondo	ICD10:C46.2|MedDRA:10023284|ICD10:C46.1|ICD10:C46.0|ICD9:176|NCIT:C9087|MESH:D012514|ICD9:176.8|COHD:434584|Orphanet:33276|DOID:8632|EFO:0000558|GARD:0006814|ICD10:C46.9|ICD10:C46.8|ICD10:C46.7|HP:0100726|ICD9:176.9|ICDO:9140/3|SCTID:109385007|ICD10:C46.3	ordo_disease	Kaposi's sarcoma of the gallbladder|HHV8|Kaposi's sarcoma of the prostate|prostate Kaposi's sarcoma|Kaposi's sarcoma of soft tissues|Kaposi's sarcoma of lymph nodes|Kaposi's sarcoma of palate|Kaposi's sarcoma-associated herpesvirus (KSHV)|Kaposi's sarcoma of the CNS|cutaneous Kaposi's sarcoma|intestinal Kaposi's sarcoma|palate Kaposi's sarcoma|Kaposi sarcoma herpesvirus|corneal Kaposi's sarcoma|anal Kaposi's sarcoma|central nervous system Kaposi's sarcoma|Kaposi's sarcoma of heart|Kaposi's sarcoma of cornea|conjunctival Kaposi's sarcoma|Kaposi's sarcoma of skin|gallbladder Kaposi's sarcoma|lymph node Kaposi's sarcoma|Kaposi's sarcoma, lung|Kaposi's sarcoma of soft tissue|lymphadenopathic Kaposi's sarcoma|soft tissue Kaposi's sarcoma|Kaposi's sarcoma of lung|cardiac Kaposi's sarcoma|Kaposi's sarcoma of anus|Kaposi's sarcoma of gastrointestinal sites|Kaposi's sarcoma of penis|multiple hemorrhagic sarcoma|Kaposi sarcoma|Kaposi's sarcoma, skin|Kaposi's sarcoma of central nervous system|KSHV|African lymphadenopathic Kaposi's sarcoma|non AIDS related Kaposi sarcoma|gastric Kaposi's sarcoma|KS|esophageal Kaposi's sarcoma|Kaposi's sarcoma|human herpesvirus 8|Kaposi's sarcoma of esophagus|Mediterranean Kaposi sarcoma|pulmonary Kaposi's sarcoma|penis Kaposi's sarcoma|Kaposi's sarcoma of conjunctiva	http://purl.obolibrary.org/obo/MONDO_0005055	A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS).	DOID:8632|ORPHA:33276|SNOMEDCT:109385007|MEDDRA:10023284|NCIT:C9087|UMLS:C0036220|MESH:D012514
MONDO:0020670	antithrombin deficiency type 2	biolink:Disease	mondo	GARD:0010182|MESH:C537779	gard_rare	antithrombin deficiency type 2|Inherited antithrombin deficiency type II|antithrombmin III deficiency Type II	http://purl.obolibrary.org/obo/MONDO_0020670		MESH:C537779
MONDO:0044663	aquagenic palmoplantar keratoderma	biolink:Disease	mondo	Orphanet:498359|GARD:0012991	gard_rare|ordo_disease	aquagenic syringeal acrokeratoderma|aquagenic palmoplantar keratoderma|aquagenic wrinkling of the palms|transient reactive papulotranslucent acrokeratoderma|Transient reactive papulotranslucent acrokeratoderma|aquagenic keratoderma|aquagenic wrinkling of the hands	http://purl.obolibrary.org/obo/MONDO_0044663	Aquagenic syringeal acrokeratoderma is a rare condition affecting the palms of the hands. It is characterized by the appearance or worsening of a palmar eruption, following brief exposure to water. The palmar eruption is made up of small, white or shining pimples that can conjoin into plaques. The feet are unaffected. Symptoms include a burning pain and a tightening sensation in the palms, as well as too much sweating. There are two variants. Most commonly, it is a temporary and recurrent condition that appears after submersion in water, known as the bhand in the bucket sign,b that gets better within minutes to hours of drying. A less common variant is characterized by persistent lesions that are worsened after water submersion. The cause of aquagenic syringeal acrokeratoderma is unknown, but likely relates to sweating. Several studies have found that it is present in about 40% to 84% of cystic fibrosis patients and also in carriers, which suggest that it may be caused by mutations in the CFTR gene. It is more often found in young women. Besides cystic fibrosis, it is also seen in wasting (marasmus) and nephrotic syndrome and also with the use of aspirin and other drugs such as rofecoxib and celecoxib. In most cases it does not need any treatment and resolves spontaneously. When necessary, it can be treated with topical aluminum chloride or salicylic acid ointment or with tap water iontophoresis.	ORPHA:498359
MONDO:0005054	obsolete juvenile dermatomyositis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005054		
MONDO:0032680	global developmental delay with or without impaired intellectual development	biolink:Disease	mondo	OMIM:618330		GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT; GDDI	http://purl.obolibrary.org/obo/MONDO_0032680		http://identifiers.org/omim/618330
MONDO:0005051	invasive lobular breast carcinoma	biolink:Disease	mondo	UMLS:C0279565|ONCOTREE:ILC|DOID:3457|NCIT:C7950|EFO:0000553|UMLS:C0206692		breast invasive lobular carcinoma|invasive lobular breast carcinoma|invasive lobular adenocarcinoma|invasive lobular carcinoma of the breast|lobular carcinoma NOS (morphologic abnormality)|lobular carcinoma of the breast|lobular carcinoma (morphologic abnormality)|invasive lobular carcinoma|infiltrating lobular carcinoma of breast|classic invasive lobular carcinoma|infiltrating lobular adenocarcinoma|infiltrating lobular breast carcinoma|infiltrating lobular carcinoma of the breast|invasive lobular carcinoma, classic type|lobular carcinoma of breast|lobular carcinoma|invasive lobular carcinoma of breast	http://purl.obolibrary.org/obo/MONDO_0005051	An infiltrating lobular adenocarcinoma of the breast. The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma. The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures.	NCIT:C7950|UMLS:C0279565|UMLS:C0206692|DOID:3457
MONDO:0005050	invasive ductal and lobular carcinoma	biolink:Disease	mondo	UMLS:C1334277|NCIT:C7688|EFO:0000552|ICDO:8522/3		infiltrating ductal and lobular carcinoma|invasive duct and lobular carcinoma|invasive ductal and lobular carcinoma	http://purl.obolibrary.org/obo/MONDO_0005050	An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive.	UMLS:C1334277|NCIT:C7688
MONDO:0020669	paranasal sinus cancer	biolink:Disease	mondo	NCIT:C7487		malignant neoplasm of the paranasal sinus|malignant tumor of accessory sinus|malignant accessory sinus neoplasm|malignant neoplasm of paranasal sinus|malignant paranasal sinus tumor|malignant tumor of the paranasal sinus|malignant tumor of paranasal sinus|malignant neoplasm of the accessory sinus|malignant paranasal sinus neoplasm|malignant neoplasm of accessory sinus|malignant accessory sinus tumor|malignant tumor of the accessory sinus	http://purl.obolibrary.org/obo/MONDO_0020669	A primary or metastatic malignant neoplasm involving the paranasal sinuses.	NCIT:C7487
MONDO:0017028	secondary interstitial lung disease specific to adulthood associated with a systemic disease	biolink:Disease	mondo	UMLS:CN202340|Orphanet:264745	ordo_group_of_disorders	secondary ILD specific to adulthood associated with a systemic disease	http://purl.obolibrary.org/obo/MONDO_0017028		ORPHA:264745|UMLS:CN202340
MONDO:0044657	MME-related autosomal dominant Charcot Marie Tooth disease type 2	biolink:Disease	mondo	Orphanet:497757	ordo_disease	MME-related autosomal dominant CMT2|MME-related autosomal dominant hereditary motor and sensory neuropathy type 2	http://purl.obolibrary.org/obo/MONDO_0044657		ORPHA:497757
MONDO:0020668	obsolete spastic paraplegia 5B	biolink:Disease	mondo	OMIM:600146|GARD:0004917	gard_rare	moved to 270800|SPG5B	http://purl.obolibrary.org/obo/MONDO_0020668		http://identifiers.org/omim/600146
MONDO:0017029	Langerhans cell histiocytosis specific to adulthood	biolink:Disease	mondo	Orphanet:264750|NCIT:C114929|UMLS:C3900100	ordo_group_of_disorders	Langerhans cell granulomatosis specific to adulthood|Langerhans cell histiocytosis|histiocytosis X specific to adulthood|adult Langerhans cell histiocytosis	http://purl.obolibrary.org/obo/MONDO_0017029	Langerhans cell histiocytosis that occurs during adulthood.	NCIT:C114929|ORPHA:264750|UMLS:C3900100
MONDO:0020667	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	biolink:Disease	mondo	OMIM:207410		ABS2|trapezoidocephaly-synostosis Syndrome|multisynostotic osteodysgenesis with long bone fractures|Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; ABS2|osteodysgenesis, multisynostotic, with fractures	http://purl.obolibrary.org/obo/MONDO_0020667		http://identifiers.org/omim/207410
MONDO:0020666	Löfgren syndrome	biolink:Disease	mondo	SCTID:238676008		Loefgrens syndrome|Löfgrens syndrome	http://purl.obolibrary.org/obo/MONDO_0020666	A sarcoidosis characterized by the triad of erythema nodosum, bilateral hilar lymphadenopathy on chest radiograph, and joint pain.	SNOMEDCT:238676008
MONDO:0019687	type 11 collagen-related bone disorder	biolink:Disease	mondo	UMLS:CN227673|Orphanet:93422	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019687		ORPHA:93422|UMLS:CN227673
MONDO:0032687	intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	biolink:Disease	mondo	OMIM:618342		INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE; IDDABS	http://purl.obolibrary.org/obo/MONDO_0032687		http://identifiers.org/omim/618342
MONDO:0030024	neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities	biolink:Disease	mondo	OMIM:618859		NEDASB|NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES; NEDASB|neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities	http://purl.obolibrary.org/obo/MONDO_0030024		http://identifiers.org/omim/618859
MONDO:0017024	secondary interstitial lung disease specific to childhood associated with a metabolic disease	biolink:Disease	mondo	Orphanet:264719|UMLS:CN202337	ordo_group_of_disorders	secondary ILD specific to childhood associated with a metabolic disease	http://purl.obolibrary.org/obo/MONDO_0017024		ORPHA:264719|UMLS:CN202337
MONDO:0032688	polymicrogyria with or without vascular-type ehlers-danlos syndrome	biolink:Disease	mondo	OMIM:618343		POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME; PMGEDSV	http://purl.obolibrary.org/obo/MONDO_0032688		http://identifiers.org/omim/618343
MONDO:0017025	Langerhans cell histiocytosis specific to childhood	biolink:Disease	mondo	NCIT:C114483|Orphanet:264724|UMLS:C3899655	ordo_group_of_disorders	Langerhans cell granulomatosis specific to childhood|Langerhans cell histiocytosis|histiocytosis X specific to childhood|childhood Langerhans cell histiocytosis	http://purl.obolibrary.org/obo/MONDO_0017025	Langerhans cell histiocytosis that occurs during childhood.	UMLS:C3899655|NCIT:C114483|ORPHA:264724
MONDO:0019686	type 2 collagen-related bone disorder	biolink:Disease	mondo	UMLS:CN227672|Orphanet:93421	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019686		ORPHA:93421|UMLS:CN227672
MONDO:0032685	infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development	biolink:Disease	mondo	OMIM:618339		INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT; CASGID	http://purl.obolibrary.org/obo/MONDO_0032685		http://identifiers.org/omim/618339
MONDO:0017026	interstitial lung disease specific to adulthood	biolink:Disease	mondo	Orphanet:264735|UMLS:CN202338	ordo_group_of_disorders	ILD specific to adulthood	http://purl.obolibrary.org/obo/MONDO_0017026		ORPHA:264735|UMLS:CN202338
NCBITaxon:548681	Herpesvirales	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_548681		
MONDO:0030026	retinal dystrophy with leukodystrophy	biolink:Disease	mondo	OMIM:618863		RDLKD|retinal dystrophy with leukodystrophy|RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD	http://purl.obolibrary.org/obo/MONDO_0030026		http://identifiers.org/omim/618863
MONDO:0019689	perlecan-related bone disorder	biolink:Disease	mondo	UMLS:CN227675|Orphanet:93424	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019689		ORPHA:93424|UMLS:CN227675
HGNC:20318	SMOC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20318		
MONDO:0019688	sulfation-related bone disorder	biolink:Disease	mondo	UMLS:CN227674|Orphanet:93423	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019688		ORPHA:93423|UMLS:CN227674
MONDO:0032686	spermatogenic failure 35	biolink:Disease	mondo	OMIM:618341		SPERMATOGENIC FAILURE 35; SPGF35	http://purl.obolibrary.org/obo/MONDO_0032686		http://identifiers.org/omim/618341
MONDO:0017027	primary interstitial lung disease specific to adulthood	biolink:Disease	mondo	Orphanet:264740|UMLS:CN202339	ordo_group_of_disorders	primary ILD specific to adulthood	http://purl.obolibrary.org/obo/MONDO_0017027		ORPHA:264740|UMLS:CN202339
MONDO:0030025	neurodevelopmental disorder with hypotonia, microcephaly, and seizures	biolink:Disease	mondo	OMIM:618862		NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS|neurodevelopmental disorder with hypotonia, microcephaly, and seizures|NEDHYMS	http://purl.obolibrary.org/obo/MONDO_0030025		http://identifiers.org/omim/618862
MONDO:0017020	secondary interstitial lung disease specific to childhood associated with a systemic disease	biolink:Disease	mondo	UMLS:CN202333|Orphanet:264699	ordo_group_of_disorders	secondary ILD specific to childhood associated with a systemic disease	http://purl.obolibrary.org/obo/MONDO_0017020		ORPHA:264699|UMLS:CN202333
MONDO:0030020	combined oxidative phosphorylation deficiency 44	biolink:Disease	mondo	OMIM:618855		COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44|COXPD44|combined oxidative phosphorylation deficiency 44	http://purl.obolibrary.org/obo/MONDO_0030020		http://identifiers.org/omim/618855
MONDO:0019683	syndactyly type 2	biolink:Disease	mondo	ICD10:Q70.2|ICD10:Q70.0|GARD:0005087|SCTID:715724002|Orphanet:93403	ordo_morphological_anomaly|gard_rare	synpolydactyly|SPD	http://purl.obolibrary.org/obo/MONDO_0019683	Syndactyly type 2 or synpolydactyly (SPD) is a rare congenital distal limb malformation characterized by the combination of syndactyly and polydactyly.	UMLS:C2699746|SNOMEDCT:715724002|ORPHA:93403
MONDO:0017021	secondary interstitial lung disease specific to childhood associated with a connective tissue disease	biolink:Disease	mondo	Orphanet:264704|UMLS:CN202334	ordo_group_of_disorders	secondary ILD specific to childhood associated with a connective tissue disease	http://purl.obolibrary.org/obo/MONDO_0017021		ORPHA:264704|UMLS:CN202334
MONDO:0032684	intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	biolink:Disease	mondo	OMIM:618336		INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY; IMAGEI|Imagei Syndrome	http://purl.obolibrary.org/obo/MONDO_0032684		http://identifiers.org/omim/618336
MONDO:0019682	congenital sialidosis type 2	biolink:Disease	mondo	ICD10:E77.1|Orphanet:93400	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0019682		ORPHA:93400
MONDO:0032681	encephalopathy, progressive, early-onset, with episodic rhabdomyolysis	biolink:Disease	mondo	OMIM:618331		ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS; PEERB	http://purl.obolibrary.org/obo/MONDO_0032681		http://identifiers.org/omim/618331
MONDO:0019685	FGFR3-related chondrodysplasia	biolink:Disease	mondo	Orphanet:93420	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019685		ORPHA:93420
MONDO:0017022	secondary interstitial lung disease specific to childhood associated with a systemic vasculitis	biolink:Disease	mondo	Orphanet:264709|UMLS:CN202335	ordo_group_of_disorders	secondary ILD specific to childhood associated with a systemic vasculitis	http://purl.obolibrary.org/obo/MONDO_0017022		ORPHA:264709|UMLS:CN202335
MONDO:0017023	secondary interstitial lung disease specific to childhood associated with a granulomatous disease	biolink:Disease	mondo	Orphanet:264714|UMLS:CN202336	ordo_group_of_disorders	secondary ILD specific to childhood associated with a granulomatous disease	http://purl.obolibrary.org/obo/MONDO_0017023		ORPHA:264714|UMLS:CN202336
MONDO:0019684	obsolete rare bone disease	biolink:Disease	mondo	Orphanet:93419|UMLS:CN206613	ordo_group_of_disorders|obsoletion_candidate	rare bone disease	http://purl.obolibrary.org/obo/MONDO_0019684	Rare bone disease.	UMLS:CN206613|ORPHA:93419
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	biolink:PhenotypicFeature	mondo	UMLS:C4022157		Muscle fibre cytoplasmatic inclusion bodies|Muscle fiber cytoplasmic bodies	http://purl.obolibrary.org/obo/HP_0100303	The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins.	
MONDO:0019670	ulnar hemimelia	biolink:Disease	mondo	Orphanet:93320|ICD10:Q71.5|SCTID:21893008|ICD9:755.59	ordo_morphological_anomaly	ulnar clubhand|congenital longitudinal deficiency of the ulna|ulnar longitudinal meromelia	http://purl.obolibrary.org/obo/MONDO_0019670	Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone.	SNOMEDCT:21893008|ORPHA:93320
MONDO:0030028	neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline	biolink:Disease	mondo	OMIM:618868		NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC|CONATOC|neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline	http://purl.obolibrary.org/obo/MONDO_0030028		http://identifiers.org/omim/618868
MONDO:0005028	esophageal adenocarcinoma	biolink:Disease	mondo	ICD10:C15.5|EFO:0000478|ICD10:C15.2|Orphanet:99976|DOID:4914|UMLS:C0279628|SCTID:276803003|ONCOTREE:ESCA|NCIT:C4025	ordo_disease	adenocarcinoma of the esophagus|oesophageal adenocarcinoma NOS|oesophageal adenocarcinoma|esophagus adenocarcinoma|adenocarcinoma - esophagus|adenocarcinoma of esophagus|adenocarcinoma of esophagus|esophageal adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005028	A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus. Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported. Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas. Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. The prognosis is poor.	UMLS:C0279628|SNOMEDCT:276803003|ORPHA:99976|DOID:4914|NCIT:C4025
MONDO:0005027	epilepsy	biolink:Disease	mondo	ICD9:345.9|ICD9:345.8|ICD10:G40.9|EFO:0000474|SCTID:84757009|ICD9:345.90|ICD10:G40|NCIT:C3020|ICD9:345.91|DOID:1826|ICD10:G40.909|ICD9:345.80|MESH:D004827|ICD9:345|COHD:380378|NIFSTD:birnlex_12718		epileptic syndrome|seizure disorder|epilepsy syndrome	http://purl.obolibrary.org/obo/MONDO_0005027	A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.	SNOMEDCT:84757009|DOID:1826|NCIT:C3020|MESH:D004827
MONDO:0030027	tremor, hereditary essential, 6	biolink:Disease	mondo	OMIM:618866		ETM6|tremor, hereditary essential, 6|TREMOR, HEREDITARY ESSENTIAL, 6; ETM6	http://purl.obolibrary.org/obo/MONDO_0030027		http://identifiers.org/omim/618866
MONDO:0007689	guanylate kinase 3	biolink:Disease	mondo	OMIM:139290		GUK3|guanylate KINASE 3; GUK3|guanylate kinase type 3|guanylate kinase 3	http://purl.obolibrary.org/obo/MONDO_0007689		http://identifiers.org/omim/139290
MONDO:0032689	retinitis pigmentosa 85	biolink:Disease	mondo	OMIM:618345		RETINITIS PIGMENTOSA 85; RP85	http://purl.obolibrary.org/obo/MONDO_0032689		http://identifiers.org/omim/618345
MONDO:0005029	essential thrombocythemia	biolink:Disease	mondo	SCTID:109994006|EFO:0000479|COHD:438383|MESH:D013920|MedDRA:10015493|ICD10:D47.3|UMLS:C0040028|NCIT:C3407|ICD9:238.71|ONCOTREE:ET|Orphanet:3318|DOID:2224|GARD:0006594|ICDO:9962/3	ordo_disease|gard_rare	ET|essential thrombocythemia|primary thrombocytosis|hereditary thrombocythemia|idiopathic thrombocythemia|essential thrombocythaemia|primary thrombocythemia|familial thrombocytosis|essential thrombocytemia|hemorrhagic thrombocythemia|essential thrombocytosis	http://purl.obolibrary.org/obo/MONDO_0005029	A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. (WHO, 2008)	ORPHA:3318|MESH:D013920|UMLS:C0040028|DOID:2224|MEDDRA:10015493|SNOMEDCT:109994006|NCIT:C3407
MONDO:0030029	skeletal dysplasia, mild, with joint laxity and advanced bone age	biolink:Disease	mondo	OMIM:618870		SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA|SDJLABA|skeletal dysplasia, mild, with joint laxity and advanced bone age	http://purl.obolibrary.org/obo/MONDO_0030029		http://identifiers.org/omim/618870
HGNC:22954	POGLUT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/22954		
HGNC:10968	SLC22A4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10968		
MONDO:0020665	high grade malignant neoplasm	biolink:Disease	mondo	NCIT:C36046		high grade malignant neoplasm	http://purl.obolibrary.org/obo/MONDO_0020665		NCIT:C36046
MONDO:0007687	graying of hair, precocious	biolink:Disease	mondo	OMIM:139100|UMLS:C1841809|MESH:C564209		White hair, premature|graying of hair, precocious	http://purl.obolibrary.org/obo/MONDO_0007687		MESH:C564209|UMLS:C1841809|http://identifiers.org/omim/139100
MONDO:0005024	obsolete emphysema	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005024		
MONDO:0005023	ductal breast carcinoma in situ	biolink:Disease	mondo	NCIT:C2924|EFO:0000432|ICD9:233.0|DOID:0060074|MESH:D002285|ICDO:8500/2|ONCOTREE:DCIS		non-infiltrating ductal adenocarcinoma of breast|non-invasive intraductal adenocarcinoma of breast|carcinoma in situ of mammary duct|non-invasive intraductal adenocarcinoma of the breast|ductal breast carcinoma in situ|non-infiltrating ductal adenocarcinoma of the breast|intraductal breast carcinoma|intraductal carcinoma of breast|mammary duct carcinoma in situ|non-infiltrating ductal breast adenocarcinoma|non-invasive intraductal breast adenocarcinoma|intraductal carcinoma of the breast|ductal carcinoma in situ|non-invasive ductal carcinoma of breast|non-invasive ductal carcinoma of the breast|non-infiltrating ductal breast carcinoma|non-invasive ductal adenocarcinoma of breast|intraductal carcinoma|non-infiltrating intraductal adenocarcinoma of breast|ductal carcinoma in situ (DCIS)|stage 0 mammary duct carcinoma|non-invasive ductal adenocarcinoma of the breast|non-infiltrating intraductal adenocarcinoma of the breast|non-infiltrating intraductal breast adenocarcinoma|non-infiltrating intraductal carcinoma|non-invasive ductal breast adenocarcinoma|non-infiltrating ductal carcinoma of breast|ductal carcinoma in situ of breast|non-infiltrating ductal carcinoma of the breast|breast ductal carcinoma in situ|non-infiltrating intraductal adenocarcinoma|non-invasive ductal breast carcinoma|DCIS|mammary duct in situ carcinoma|ductal carcinoma in situ of the breast	http://purl.obolibrary.org/obo/MONDO_0005023	A carcinoma entirely confined to the mammary ducts. It is also known as DCIS. There is no evidence of invasion of the basement membrane. Currently, it is classified into three categories: High-grade DCIS, intermediate-grade DCIS and low-grade DCIS. In this classification the DCIS grade is defined by a combination of nuclear grade, architectural growth pattern and presence of necrosis. The size of the lesion as well as the grade and the clearance margins play a major role in dictating the most appropriate therapy for DCIS.	NCIT:C2924|DOID:0060074|MESH:D002285
MONDO:0020664	spindle cell neoplasm	biolink:Disease	mondo	NCIT:C27263|EFO:0000705		spindle cell tumor|spindle cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0020664	A benign or malignant neoplasm characterized by the presence of neoplastic spindle cells.	NCIT:C27263
MONDO:0007688	Myhre syndrome	biolink:Disease	mondo	SCTID:699316006|OMIM:139210|UMLS:C0796081|Orphanet:2588|NCIT:C123815|ICD10:Q87.8|MESH:C537620|ICD9:759.89|GARD:0002572	ordo_malformation_syndrome|gard_rare	MYHRS|MYHRE syndrome; MYHRS|Myhre syndrome|facial dysmorphism - intellectual deficit - short stature - hearing loss|Growth-mental deficiency syndrome of Myhre|Growth mental deficiency syndrome of Myhre|facial dysmorphism-intellectual disability-short stature-hearing loss syndrome|laryngotracheal stenosis, arthropathy, prognathism, and short stature|LAPS syndrome	http://purl.obolibrary.org/obo/MONDO_0007688	Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.	ORPHA:2588|MESH:C537620|SNOMEDCT:699316006|UMLS:C0796081|http://identifiers.org/omim/139210|NCIT:C123815
MONDO:0044675	LRP5-related primary osteoporosis	biolink:Disease	mondo	Orphanet:498481	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0044675		ORPHA:498481
HGNC:10969	SLC22A5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10969		
MONDO:0005026	endometrioid adenocarcinoma	biolink:Disease	mondo	NCIT:C3769|EFO:0000466|UMLS:C0206687|ICDO:8380/3|UMLS:C1569637		endometrioid carcinoma of female reproductive system|endometrioid adenocarcinoma|endometrioid carcinoma of the female reproductive system|female reproductive endometrioid carcinoma|endometrioid carcinoma	http://purl.obolibrary.org/obo/MONDO_0005026	An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament.	UMLS:C1569637|UMLS:C0206687|NCIT:C3769
MONDO:0020663	malignant spindle cell neoplasm	biolink:Disease	mondo	NCIT:C27091		malignant spindle cell neoplasm|spindle cell cancer|malignant spindle cell tumor	http://purl.obolibrary.org/obo/MONDO_0020663	A malignant neoplasm characterized by the presence of atypical spindle cells.	NCIT:C27091
MONDO:0007685	granulosis rubra nasi	biolink:Disease	mondo	MESH:C562483|UMLS:C0263471|OMIM:139000|ICD9:705.89|SCTID:22818000		granulosis rubra nasi	http://purl.obolibrary.org/obo/MONDO_0007685		SNOMEDCT:22818000|UMLS:C0263471|MESH:C562483|http://identifiers.org/omim/139000
MONDO:0007686	gray platelet syndrome	biolink:Disease	mondo	UMLS:C0272302|SCTID:51720005|MESH:D055652|OMIM:139090|ICD10:D69.1|UMLS:CN205641|GARD:0002562|NCIT:C84741|UMLS:C2717750|DOID:0111044|Orphanet:721	ordo_disease|gard_rare	platelet alpha-granule deficiency|bleeding disorder, Platelet-type, 4|grey platelet syndrome|marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins|gray platelet syndrome; GPS|GPS|Alpha storage pool deficiency|platelet-type bleeding disorder 4|gray platelet syndrome|BDPLT4	http://purl.obolibrary.org/obo/MONDO_0007686	Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear.	MESH:D055652|DOID:0111044|ORPHA:721|UMLS:C2717750|UMLS:CN205641|http://identifiers.org/omim/139090|NCIT:C84741|UMLS:C0272302|SNOMEDCT:51720005
MONDO:0005025	endocarditis (disease)	biolink:Disease	mondo	DOID:10314|ICD10:I33.9|COHD:441589|EFO:0000465|ICD9:421.9|ICD9:424.99|MESH:D004696|NCIT:C34582|HP:0100584|SCTID:56819008		endocarditis|endocardium inflammation|inflammation of endocardium	http://purl.obolibrary.org/obo/MONDO_0005025	Inflammation of the endocardium.	NCIT:C34582|SNOMEDCT:56819008|DOID:10314|MESH:D004696
MONDO:0020662	borderline ovarian serous tumor	biolink:Disease	mondo	NCIT:C5226		proliferating serous tumor of the ovary|proliferating serous tumor of ovary|ovarian serous neoplasm of low malignant potential|borderline serous neoplasm of the ovary|proliferating ovarian serous neoplasm|serous ovarian tumor of low malignant potential|borderline serous neoplasm of ovary|borderline ovarian serous tumor|borderline serous tumor of the ovary|borderline serous tumor of ovary|serous ovarian neoplasm of low malignant potential|serous tumor of ovary with low malignant potential|serous tumor of the ovary with low malignant potential|ovarian serous tumor of low malignant potential|serous neoplasm of ovary with low malignant potential|proliferating serous neoplasm of the ovary|proliferating ovarian serous tumor|proliferating serous neoplasm of ovary|serous neoplasm of the ovary with low malignant potential|borderline ovarian serous neoplasm	http://purl.obolibrary.org/obo/MONDO_0020662	A low grade serous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion. It is often asymptomatic but rarely it may present with abdominal pain or abdominal enlargement due to rupture or torsion.	NCIT:C5226
MONDO:0007683	Grant syndrome	biolink:Disease	mondo	Orphanet:2097|ICD10:Q87.5|SCTID:723827003|UMLS:C1841835|MESH:C537293|OMIM:138930|GARD:0002559	ordo_malformation_syndrome|gard_rare	Grant syndrome|persistent wormian bones, blue sclerae, mandibular hypoplasia, shallow glenoid fossae and campomelia	http://purl.obolibrary.org/obo/MONDO_0007683	Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986.	http://identifiers.org/omim/138930|SNOMEDCT:723827003|UMLS:C1841835|ORPHA:2097|MESH:C537293
MONDO:0005020	intestinal disease	biolink:Disease	mondo	ICD9:520-579.99|ICD9:569.9|ICD9:569.89|ICD9:564|ICD9:575|ICD9:569.49|ICD9:569.4|ICD10:K63.9|SCTID:85919009|ICD9:570-579.99|ICD9:560-569.99|DOID:5295|NCIT:C26801|MESH:D007410|ICD9:564.4|ICD9:569		disease, intestinal|intestine disease or disorder|intestinal disorder|disorder of intestine|diseases, intestinal|intestine disease|disorder of intestine|disease or disorder of intestine|intestinal disease|disease of intestine	http://purl.obolibrary.org/obo/MONDO_0005020	A non-neoplastic or neoplastic disorder that affects the small or large intestine.	MESH:D007410|SNOMEDCT:85919009|NCIT:C26801|DOID:5295
MONDO:0020661	undifferentiated round cell sarcoma	biolink:Disease	mondo	NCIT:C121799		undifferentiated round cell sarcoma	http://purl.obolibrary.org/obo/MONDO_0020661	An undifferentiated soft tissue sarcoma characterized by the presence of uniform round or ovoid malignant cells with a high nuclear to cytoplasmic ratio.	NCIT:C121799
MONDO:0007684	granulomatous disease, chronic, autosomal dominant type	biolink:Disease	mondo	MESH:C564210|OMIM:138990|DOID:0070190|UMLS:C1841825		granulomatous disease, chronic, autosomal dominant type	http://purl.obolibrary.org/obo/MONDO_0007684		http://identifiers.org/omim/138990|MESH:C564210|UMLS:C1841825|DOID:0070190
MONDO:0020660	osteoblastic osteosarcoma	biolink:Disease	mondo	NCIT:C53953		osteoblastic osteosarcoma	http://purl.obolibrary.org/obo/MONDO_0020660	A conventional osteosarcoma characterized by the predominance of osteoid matrix.	NCIT:C53953
MONDO:0007681	familial multinodular goiter	biolink:Disease	mondo	ICD10:E04.2|SCTID:267369002|OMIM:138800|COHD:141825|UMLS:CN202615|Orphanet:276399|ICD9:240.0|MESH:C562732	ordo_disease	goiter, nontoxic, with Intrathyroidal calcification|FMNG|goiter, multinodular 1, with or without Sertoli-Leydig cell tumors|multinodular goiter, adolescent|MNG1|hereditary multinodular goiter|euthyroid goiter|goiter, multinodular 1, with or without Sertoli-Leydig cell tumors; MNG1|simple goiter|familial MNG	http://purl.obolibrary.org/obo/MONDO_0007681	An instance of multinodular goiter that is caused by an inherited modification of the individual's genome.	ORPHA:276399|MESH:C562732|UMLS:CN202615|SNOMEDCT:267369002|http://identifiers.org/omim/138800
MONDO:0005022	obsolete ductal breast adenocarcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005022		
MONDO:0005021	dilated cardiomyopathy	biolink:Disease	mondo	SCTID:195021004|Orphanet:217604|UMLS:C0007193|MedDRA:10056370|MP:0002795|ICD9:425.4|KEGG:05414|HP:0001644|NCIT:C84673|DOID:12930|EFO:0000407|MESH:D002311|ICD10:I42.0|COHD:4163710	ordo_group_of_disorders	idiopathic dilation cardiomyopathy|congestive cardiomyopathy|familial dilated cardiomyopathy|primary dilated cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0005021	Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure.	UMLS:C0007193|DOID:12930|MEDDRA:10056370|SNOMEDCT:195021004|ORPHA:217604|NCIT:C84673|MESH:D002311
MONDO:0007682	granddad syndrome	biolink:Disease	mondo	MESH:C564211|UMLS:C1841836|OMIM:138920		granddad syndrome|Growth retardation, aged facies, normal development, decreased subcutaneous fat, autosomal dominant inheritance	http://purl.obolibrary.org/obo/MONDO_0007682		MESH:C564211|UMLS:C1841836|http://identifiers.org/omim/138920
MONDO:0032690	microcephaly, growth deficiency, seizures, and brain malformations	biolink:Disease	mondo	OMIM:618346		MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS; MIGSB	http://purl.obolibrary.org/obo/MONDO_0032690		http://identifiers.org/omim/618346
MONDO:0007680	multinodular goiter-cystic kidney-polydactyly syndrome	biolink:Disease	mondo	OMIM:138790|ICD10:Q87.8|GARD:0001671|Orphanet:2091|SCTID:723409007|UMLS:C1841853|MESH:C535986	ordo_malformation_syndrome	Daneman-Davy-Mancer syndrome|MNG/CRD/Da|goiter, multinodular, cystic renal disease, and digital anomalies|thyroid-renal-digital anomalies|multinodular goiter - cystic kidney - polydactyly|multinodular goiter/cystic renal disease/digital anomalies|multinodular goiter, cystic renal disease, and digital anomalies|Daneman Davy Mancer syndrome	http://purl.obolibrary.org/obo/MONDO_0007680	Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies.	MESH:C535986|UMLS:C1841853|ORPHA:2091|SNOMEDCT:723409007|http://identifiers.org/omim/138790
MONDO:0032691	Galloway-Mowat syndrome 6	biolink:Disease	mondo	OMIM:618347		GALLOWAY-MOWAT SYNDROME 6; GAMOS6	http://purl.obolibrary.org/obo/MONDO_0032691		http://identifiers.org/omim/618347
MONDO:0020659	upper tract urothelial carcinoma	biolink:Disease	mondo	ONCOTREE:UTUC			http://purl.obolibrary.org/obo/MONDO_0020659		
MONDO:0017017	primary interstitial lung disease specific to childhood due to alveolar vascular disorder	biolink:Disease	mondo	Orphanet:264683|UMLS:CN202329	ordo_group_of_disorders	primary ILD specific to childhood due to alveolar vascular disorder	http://purl.obolibrary.org/obo/MONDO_0017017		ORPHA:264683|UMLS:CN202329
MONDO:0020658	infiltrating ureter transitional cell carcinoma	biolink:Disease	mondo	DOID:6845			http://purl.obolibrary.org/obo/MONDO_0020658		DOID:6845
HGNC:19309	KANK1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19309		
HGNC:10975	SLC24A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10975		
MONDO:0017018	isolated pulmonary capillaritis	biolink:Disease	mondo	ICD9:448.9|Orphanet:264691|SCTID:707436001|UMLS:C3873357	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017018	Isolated pauciimmune pulmonary capillaritis is a small vessel vasculitis restricted to the lungs that may induce diffuse alveolar hemorrhage with dyspnea, anemia, chest pain, hemoptysis, bilateral and diffuse alveolar infiltrates at chest X-rays, without any underlying systemic disease. ANCA are frequently positive but could be negative.	SNOMEDCT:707436001|UMLS:C3873357|ORPHA:264691
MONDO:0019679	brachydactyly type A7	biolink:Disease	mondo	GARD:0000984|UMLS:CN206603|Orphanet:93397|SCTID:720571006|ICD10:Q73.8	gard_rare|ordo_malformation_syndrome	brachydactyly Smorgasbord type|brachydactyly, Smorgasbord type	http://purl.obolibrary.org/obo/MONDO_0019679	Brachydactyly type A7 (Smorgasbord type) is a form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features.	SNOMEDCT:720571006|UMLS:CN206603|ORPHA:93397
MONDO:0020657	human papillomavirus-related squamous cell carcinoma	biolink:Disease	mondo	NCIT:C27683		human papillomavirus-related squamous cell carcinoma|human papilloma virus-related squamous cell carcinoma|human papilloma virus related squamous cell carcinoma|HPV-related squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0020657		NCIT:C27683
MONDO:0017019	interstitial lung disease specific to infancy	biolink:Disease	mondo	UMLS:CN202332|Orphanet:264694	ordo_group_of_disorders	ILD specific to infancy	http://purl.obolibrary.org/obo/MONDO_0017019		UMLS:CN202332|ORPHA:264694
MONDO:0020656	human papillomavirus-related penile squamous cell carcinoma	biolink:Disease	mondo	NCIT:C27682		human papillomavirus-related penile squamous cell carcinoma|HPV-related penile squamous cell carcinoma|human papilloma virus related penile squamous cell carcinoma|human papilloma virus-related penile squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0020656	A squamous cell carcinoma that arises from the penis and is caused by human papillomavirus infection. Morphologic variants include basaloid carcinoma and warty carcinoma.	NCIT:C27682
MONDO:0020655	juvenile ankylosing spondylitis	biolink:Disease	mondo	SCTID:239805001|DOID:0040092			http://purl.obolibrary.org/obo/MONDO_0020655		DOID:0040092|SNOMEDCT:239805001
HP:0002072	Chorea	biolink:PhenotypicFeature	mondo	UMLS:C4020858|SNOMEDCT_US:271700006|UMLS:C0008489|MSH:D002819		Choreiform movements|Choreatic disease|Choreic movements	http://purl.obolibrary.org/obo/HP_0002072	Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.	
MONDO:0030035	leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome	biolink:Disease	mondo	OMIM:618877		LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN|leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome|Leuden Syndrome|LEUDEN	http://purl.obolibrary.org/obo/MONDO_0030035		http://identifiers.org/omim/618877
MONDO:0019676	brachydactyly type B	biolink:Disease	mondo	ICD10:Q73.8|Orphanet:93383|GARD:0000985	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0019676	Brachydactyly type B (BDB) is a very rare congenital malformation characterized by hypoplasia or aplasia of the terminal parts of fingers 2 to 5, with complete absence of the fingernails.	UMLS:C1300267|ORPHA:93383
MONDO:0032698	neurodevelopmental disorder with central and peripheral motor dysfunction	biolink:Disease	mondo	OMIM:618356		NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION; NEDCPMD	http://purl.obolibrary.org/obo/MONDO_0032698		http://identifiers.org/omim/618356
MONDO:0017013	trisomy 8p	biolink:Disease	mondo	MESH:C538019|Orphanet:264450|ICD10:Q92.2	ordo_malformation_syndrome	Duplication 8p|trisomy type 8p	http://purl.obolibrary.org/obo/MONDO_0017013	Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported.	ORPHA:264450|MESH:C538019
MONDO:0017014	interstitial lung disease specific to childhood	biolink:Disease	mondo	UMLS:CN202324|SCTID:328661000119108|Orphanet:264656	ordo_group_of_disorders	pediatric interstitial lung disease|pediatric interstitial lung disease|interstitial lung disease of childhood|childhood interstitial lung disease|ILD specific to childhood	http://purl.obolibrary.org/obo/MONDO_0017014	A interstitial lung disease that occurs during childhood.	SNOMEDCT:328661000119108|ORPHA:264656|UMLS:CN202324
MONDO:0032699	epilepsy, idiopathic generalized, susceptibility to, 15	biolink:Disease	mondo	DOID:0111316|OMIM:618357		EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15; EIG15	http://purl.obolibrary.org/obo/MONDO_0032699		DOID:0111316|http://identifiers.org/omim/618357
MONDO:0019675	spondyloepimetaphyseal dysplasia with joint laxity	biolink:Disease	mondo	SCTID:254100000|ICD9:719.80|GARD:0004982|MESH:C562968|ICD10:Q77.7|OMIMPS:271640|DC:0000688|ICD9:756.9|DOID:0112197|Orphanet:93359	ordo_disease|gard_rare	spondyloepimetaphyseal dysplasia with joint laxity|SEMDJL1|SEMD-JL|spondyloepimetaphyseal dysplasia joint laxity|spondyloepimetaphyseal dysplasia with joint laxity type 1|spondyloepimetaphyseal dysplasia with joint laxity, Beighton type|SEMDJL	http://purl.obolibrary.org/obo/MONDO_0019675	A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment.	UMLS:C0432243|ORPHA:93359|MESH:C562968|SNOMEDCT:254100000|DOID:0112197
MONDO:0030034	epilepsy, progressive myoclonic, 11	biolink:Disease	mondo	OMIM:618876		epilepsy, progressive myoclonic, 11|EPM11|EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11	http://purl.obolibrary.org/obo/MONDO_0030034		http://identifiers.org/omim/618876
MONDO:0017015	primary interstitial lung disease specific to childhood	biolink:Disease	mondo	UMLS:CN202326|Orphanet:264665|GARD:0010559	ordo_group_of_disorders|gard_rare	primary ILD specific to childhood|children's interstitial lung disease|child|primary interstitial lung disease specific to childhood	http://purl.obolibrary.org/obo/MONDO_0017015		ORPHA:264665|UMLS:CN202326
MONDO:0032696	oocyte maturation defect 6	biolink:Disease	mondo	OMIM:618353		OOCYTE MATURATION DEFECT 6; OOMD6	http://purl.obolibrary.org/obo/MONDO_0032696		http://identifiers.org/omim/618353
MONDO:0019678	brachydactyly type A5	biolink:Disease	mondo	MESH:C537091|GARD:0000982|UMLS:C1862138|SCTID:720570007|ICD10:Q73.8|Orphanet:93389	gard_rare|ordo_malformation_syndrome	brachydactyly with absence of middle phalanges and hypoplastic nails|absent middle phalanges of digits 2-5 with nail dysplasia|brachydactyly type A5 nail dysplasia	http://purl.obolibrary.org/obo/MONDO_0019678	Brachydactyly type A5 (BDA5) is a very rare congenital malformation of the digits characterized by absence of the middle phalanges (usually of digits 2 to 5), nail dysplasia and duplicated terminal phalanx of the thumb.	SNOMEDCT:720570007|ORPHA:93389|UMLS:C1862138|MESH:C537091
MONDO:0030037	neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures	biolink:Disease	mondo	OMIM:618879		neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures|NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS|Glycosylphosphatidylinositol Biosynthesis Defect 22|NEDHCAS	http://purl.obolibrary.org/obo/MONDO_0030037		http://identifiers.org/omim/618879
MONDO:0030036	leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome	biolink:Disease	mondo	OMIM:618878		LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD|LEMSPAD|Lemspad Syndrome|leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome	http://purl.obolibrary.org/obo/MONDO_0030036		http://identifiers.org/omim/618878
MONDO:0019677	brachydactyly type E	biolink:Disease	mondo	Orphanet:93387|ICD10:Q73.8|GARD:0000987	ordo_malformation_syndrome	type E brachydactyly	http://purl.obolibrary.org/obo/MONDO_0019677	Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.	UMLS:C0265312|ORPHA:93387
MONDO:0032697	neurodevelopmental disorder and language delay with or without structural brain abnormalities	biolink:Disease	mondo	OMIM:618354		NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES; NEDLBA	http://purl.obolibrary.org/obo/MONDO_0032697		http://identifiers.org/omim/618354
HP:0002071	Abnormality of extrapyramidal motor function	biolink:PhenotypicFeature	mondo	MSH:D001480|UMLS:C0234133|SNOMEDCT_US:43378000|UMLS:C0015371|SNOMEDCT_US:76349003		Extrapyramidal syndrome|Extrapyramidal tract signs|Extrapyramidal signs|Extrapyramidal dysfunction|Extrapyramidal symptoms	http://purl.obolibrary.org/obo/HP_0002071	A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).	
HGNC:22947	NLRP7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/22947		
MONDO:0017016	primary interstitial lung disease specific to childhood due to alveolar structure disorder	biolink:Disease	mondo	Orphanet:264670|UMLS:CN202327	ordo_group_of_disorders	primary ILD specific to childhood due to alveolar structure disorder	http://purl.obolibrary.org/obo/MONDO_0017016		ORPHA:264670|UMLS:CN202327
MONDO:0030031	lissencephaly 10	biolink:Disease	mondo	OMIM:618873		lissencephaly 10|LISSENCEPHALY 10; LIS10|LIS10	http://purl.obolibrary.org/obo/MONDO_0030031		http://identifiers.org/omim/618873
MONDO:0032694	microcephaly 25, primary, autosomal recessive	biolink:Disease	mondo	OMIM:618351		MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE; MCPH25	http://purl.obolibrary.org/obo/MONDO_0032694		http://identifiers.org/omim/618351
HP:0002076	Migraine	biolink:PhenotypicFeature	mondo	UMLS:C0149931|MSH:D008881|UMLS:C0744641|SNOMEDCT_US:37796009		Migraine headaches|Migraine headache|Intermittent migraine headaches|Migraine	http://purl.obolibrary.org/obo/HP_0002076	Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.	
MONDO:0019672	fibular hemimelia	biolink:Disease	mondo	ICD10:Q72.6|Orphanet:93323	ordo_morphological_anomaly	congenital longitudinal deficiency of the fibula|fibular longitudinal meromelia	http://purl.obolibrary.org/obo/MONDO_0019672	Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone.	ORPHA:93323
MONDO:0017010	partial duplication of the long arm of chromosome X	biolink:Disease	mondo	Orphanet:263783|UMLS:C0795891|MESH:C536732|ICD10:Q99.8|GARD:0005369	ordo_group_of_disorders|gard_rare	trisomy Xq|partial trisomy Xq|partial trisomy of chromosome Xq|chromosome Xq duplication|partial trisomy of the long arm of chromosome X|Xq trisomy|Duplication Xq|partial duplication of chromosome Xq|Xq duplication|partial duplication of the long arm of chromosome type X	http://purl.obolibrary.org/obo/MONDO_0017010	Chromosome Xq duplication is a chromosome abnormality that affects many different parts of the body. People with this condition have an extra copy of the genetic material located on the long arm (q) of the X chromosome in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of theduplication;the genes involved; and the sex of the affected person. In general, males are typically more severely affected than females and often experience intellectual disability, developmental delay, short stature, abnormalities of the reproductive organs, anddistinctive craniofacial features. Many females with this duplication do not have any symptoms or are only affected with short stature; however, some may be just as severely affected as males with the condition. Most cases are inherited in an X-linked manner, often from a mother with no signs or symptoms of the condition. Treatment is based on the signs and symptoms present in each person.	UMLS:C0795891|MESH:C536732|ORPHA:263783
MONDO:0019671	radial hemimelia	biolink:Disease	mondo	Orphanet:93321|SCTID:48008009|ICD10:Q71.4|GARD:0000225|ICD9:755.59	ordo_morphological_anomaly	congenital longitudinal deficiency of the radius|radial ray agenesis|radial longitidinal meromelia|radial clubhand	http://purl.obolibrary.org/obo/MONDO_0019671	Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius.	ORPHA:93321|SNOMEDCT:48008009
MONDO:0030030	Nizon-Isidor syndrome	biolink:Disease	mondo	OMIM:618872		NIZIDS|nizon-isidor syndrome|NIZON-ISIDOR SYNDROME; NIZIDS	http://purl.obolibrary.org/obo/MONDO_0030030		http://identifiers.org/omim/618872
MONDO:0032692	Galloway-Mowat syndrome 7	biolink:Disease	mondo	OMIM:618348		GALLOWAY-MOWAT SYNDROME 7; GAMOS7	http://purl.obolibrary.org/obo/MONDO_0032692		http://identifiers.org/omim/618348
MONDO:0019674	postaxial polydactyly type B	biolink:Disease	mondo	UMLS:C1868120|ICD10:Q69.0|SCTID:715707008|Orphanet:93335	ordo_morphological_anomaly	PAPB	http://purl.obolibrary.org/obo/MONDO_0019674		UMLS:C1868120|SNOMEDCT:715707008|ORPHA:93335
MONDO:0017011	uniparental disomy of chromosome X	biolink:Disease	mondo	Orphanet:263793|ICD10:Q99.8	ordo_group_of_disorders	UPD(X)|uniparental disomy of chromosome type X	http://purl.obolibrary.org/obo/MONDO_0017011		ORPHA:263793
MONDO:0030033	seizures, early-onset, with neurodegeneration and brain calcifications	biolink:Disease	mondo	OMIM:618875		SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC|seizures, early-onset, with neurodegeneration and brain calcifications|SENEBAC	http://purl.obolibrary.org/obo/MONDO_0030033		http://identifiers.org/omim/618875
MONDO:0017012	partial duplication of the short arm of chromosome 1	biolink:Disease	mondo	Orphanet:264431	ordo_group_of_disorders	partial duplication of chromosome 1p|partial duplication of the short arm of chromosome type 1|partial trisomy of chromosome 1p	http://purl.obolibrary.org/obo/MONDO_0017012		ORPHA:264431
MONDO:0019673	postaxial polydactyly type A (disease)	biolink:Disease	mondo	SCTID:715704001|UMLS:C3887487|ICD10:Q69.0|HP:0005696|Orphanet:93334	ordo_morphological_anomaly	PAPA|postaxial polydactyly type A	http://purl.obolibrary.org/obo/MONDO_0019673		ORPHA:93334|SNOMEDCT:715704001|UMLS:C3887487
MONDO:0032693	Galloway-Mowat syndrome 8	biolink:Disease	mondo	OMIM:618349		GALLOWAY-MOWAT SYNDROME 8; GAMOS8	http://purl.obolibrary.org/obo/MONDO_0032693		http://identifiers.org/omim/618349
MONDO:0030032	chromosome 17q11.2 duplication syndrome, 1.4-mb	biolink:Disease	mondo	OMIM:618874		Nf1 Microduplication Syndrome|CHROMOSOME 17q11.2 DUPLICATION SYNDROME, 1.4-MB	http://purl.obolibrary.org/obo/MONDO_0030032		http://identifiers.org/omim/618874
HP:0100306	Muscle fiber hyaline bodies	biolink:PhenotypicFeature	mondo	UMLS:C4022155		Muscle fibre hyaline bodies	http://purl.obolibrary.org/obo/HP_0100306		
HP:0100314	Cerebral inclusion bodies	biolink:PhenotypicFeature	mondo	UMLS:C4022149			http://purl.obolibrary.org/obo/HP_0100314	Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain.	
HGNC:22962	MED13L	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/22962		
MONDO:0044680	short rib-polydactyly syndrome type 5	biolink:Disease	mondo	Orphanet:498497	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0044680		ORPHA:498497
MONDO:0005039	reproductive system disease	biolink:Disease	mondo	DOID:15|NCIT:C4875|SCTID:362968007|Wikipedia:Reproductive_system_disease|UMLS:C0178829|EFO:0000512		disorder of reproductive system|reproductive disease|disease or disorder of reproductive system|genital disorders|genital system disease|disorder of reproductive system|reproductive system disease|disease of reproductive system|reproductive system disease or disorder|reproductive system disorder	http://purl.obolibrary.org/obo/MONDO_0005039	A disease involving the reproductive system.	SNOMEDCT:362968007|DOID:15|NCIT:C4875|UMLS:C0178829
HP:0002090	Pneumonia	biolink:PhenotypicFeature	mondo	MSH:D011014|SNOMEDCT_US:233604007|UMLS:C0032285		Pneumonia	http://purl.obolibrary.org/obo/HP_0002090	Inflammation of any part of the lung parenchyma.	
MONDO:0030038	glaucoma, primary closed-angle	biolink:Disease	mondo	OMIM:618880		glaucoma, primary closed-angle|GLAUCOMA, PRIMARY CLOSED-ANGLE; GLCC|GLCC	http://purl.obolibrary.org/obo/MONDO_0030038		http://identifiers.org/omim/618880
MONDO:0005038	obsolete genetic disorder	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005038		
FOODON:03411087	obsolete: human as milk source	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03411087		
HGNC:20303	SLC30A8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20303		
HGNC:22965	PEX26	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/22965		
MONDO:0007698	hand-foot-genital syndrome	biolink:Disease	mondo	Orphanet:2438|ICD10:Q51.2|ICD9:759.89|DOID:0060739|OMIM:140000|UMLS:C1841679|MedDRA:10072361|GARD:0002594|MESH:C535627|SCTID:702425002	ordo_malformation_syndrome	hand-foot-uterus syndrome|hand-foot-genital syndrome|HFGS|hand-foot-genital syndrome; HFG|hand foot genital syndrome|HFU syndrome|HFG|HFG syndrome|hand foot uterus syndrome	http://purl.obolibrary.org/obo/MONDO_0007698	Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.	http://identifiers.org/omim/140000|MESH:C535627|UMLS:C1841679|SNOMEDCT:702425002|DOID:0060739|MEDDRA:10072361|ORPHA:2438
MONDO:0020654	renal pelvis/ureter urothelial carcinoma	biolink:Disease	mondo	NCIT:C7716		transitional cell cancer of the renal pelvis and ureter|transitional cell cancer of renal pelvis and ureter|renal pelvis and ureter urothelial carcinoma|transitional cell carcinoma of renal pelvis and ureter|TCC of the renal pelvis and ureter|renal pelvis and ureter TCC|TCC of renal pelvis and ureter|urothelial carcinoma of the renal pelvis and ureter|renal pelvis and ureter transitional cell carcinoma|renal pelvis and ureter transitional cell cancer	http://purl.obolibrary.org/obo/MONDO_0020654	A transitional cell carcinoma that arises from the renal pelvis and ureter.	NCIT:C7716
MONDO:0005035	ganglioneuroblastoma (disease)	biolink:Disease	mondo	NCIT:C3790|UMLS:C0206718|ONCOTREE:GNBL|HP:0006747|MedDRA:10017708|ICDO:9490/3|NIFSTD:birnlex_12633|Orphanet:251877|ICD9:171.9|EFO:0000502|SCTID:116381000119105|DOID:4163	ordo_disease	ganglioneuroblastoma (morphologic abnormality)|ganglioneuroblastoma|ganglioneuroblastoma, malignant	http://purl.obolibrary.org/obo/MONDO_0005035	A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular.	DOID:4163|UMLS:C0206718|MEDDRA:10017708|ORPHA:251877|NCIT:C3790|SNOMEDCT:116381000119105
MONDO:0044687	chronic relapsing inflammatory optic neuropathy	biolink:Disease	mondo	Orphanet:499085	ordo_disease	CRION|chronic recurrent isolated optic neuritis	http://purl.obolibrary.org/obo/MONDO_0044687		ORPHA:499085
HGNC:10979	SLC25A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10979		
MONDO:0005034	thyroid gland follicular carcinoma	biolink:Disease	mondo	DOID:3962|SCTID:255028004|ONCOTREE:THFO|HP:0006731|EFO:0000501|NCIT:C8054|ICDO:8331/3|ICDO:8330/3|MESH:D018263		thyroid gland adenocarcinoma|follicular adenocarcinoma (morphologic abnormality)|follicular cancer of thyroid|follicular adenocarcinoma, well differentiated (morphologic abnormality)|thyroid follicular carcinoma|follicular carcinoma of thyroid gland|thyroid follicle carcinoma|follicular carcinoma of the thyroid gland|thyroid gland follicular carcinoma|follicular carcinoma of the thyroid|follicular carcinoma of thyroid|follicular adenocarcinoma, well differentiated|follicular carcinoma|well-differentiated follicular carcinoma|follicular thyroid carcinoma|follicular thyroid gland carcinoma|follicular thyroid cancer|carcinoma, follicular cell, malignant|thyroid gland follicular cancer|follicular cancer of the thyroid gland|thyroid adenocarcinoma|well-differentiated follicular adenocarcinoma|follicular cancer of thyroid gland|follicular adenocarcinoma|carcinoma of thyroid follicle|follicular cancer of the thyroid	http://purl.obolibrary.org/obo/MONDO_0005034	A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. The nuclear features which characterize the thyroid gland papillary carcinoma are absent. Radiation exposure is a risk factor and it comprises approximately 10% to 15% of thyroid cancers. Clinically, it usually presents as a solitary mass in the thyroid gland. It is generally unifocal and thickly encapsulated and shows invasion of the capsule or the vessels. Diagnostic procedures include thyroid ultrasound and fine needle biopsy.	NCIT:C8054|SNOMEDCT:255028004|MESH:D018263|DOID:3962
MONDO:0007699	Hashimoto thyroiditis	biolink:Disease	mondo	DOID:7188|OMIM:140300|COHD:135215|NCIT:C27191|MESH:D050031|Wikipedia:Hashimoto's_thyroiditis|ICD10:E06.3|ICD9:245.2|UMLS:C0677607|EFO:0003779		syndromes, Hashimoto's|Hashimoto thyroiditis|Hashimoto's disease|chronic lymphocytic thyroiditis|Hashimoto's syndrome|Hashimoto thyroiditides|Hashimoto syndrome|Ht|HT|Hashimoto disease|chronic lymphocytic thyroiditides|hypothyroidism, autoimmune|hypothyroidism, autoimmune thyroid autoantibodies, included|disease, Hashimoto|Hashimotos disease|Hashimoto's syndromes|Hashimotos syndrome|disease, Hashimoto's|Hashimoto's struma|thyroiditides, Hashimoto|thyroiditis, Hashimoto|thyroiditides, chronic lymphocytic|thyroiditis, chronic lymphocytic|Hashimoto's thyroiditis|autoimmune thyroiditis|lymphocytic thyroiditis|lymphocytic thyroiditides, chronic|thyroid autoantibodies|Hashimoto struma|syndrome, Hashimoto's|lymphocytic thyroiditis, chronic	http://purl.obolibrary.org/obo/MONDO_0007699	An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism.	http://identifiers.org/omim/140300|NCIT:C27191|MESH:D050031|DOID:7188|UMLS:C0677607
MONDO:0020653	vaginal adenocarcinoma	biolink:Disease	mondo	ONCOTREE:VA|NCIT:C7981		vagina adenocarcinoma|adenocarcinoma of vagina|adenocarcinoma of the vagina|vaginal adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0020653	An adenocarcinoma arising from the vagina. Morphologic variants include the clear cell, endometrioid, mesonephric, and mucinous adenocarcinoma.	NCIT:C7981
MONDO:0005037	gastric intestinal type adenocarcinoma	biolink:Disease	mondo	UMLS:C0279633|NCIT:C9157|EFO:0000504|ONCOTREE:ISTAD		intestinal stomach adenocarcinoma|gastric intestinal-type adenocarcinoma|intestinal adenocarcinoma of the stomach|intestinal adenocarcinoma of stomach|gastric intestinal type adenocarcinoma|intestinal gastric adenocarcinoma|intestinal type stomach adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005037	An adenocarcinoma of the stomach arising on a background of intestinal metaplasia. Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma. Grossly, it tends to be nodular, polypoid or ulcerated.	UMLS:C0279633|NCIT:C9157
MONDO:0007696	Emery-Nelson syndrome	biolink:Disease	mondo	Orphanet:1927|UMLS:C1841693|GARD:0002593|MESH:C535626|OMIM:139750|ICD10:Q87.8	ordo_malformation_syndrome	familial syndrome of short stature, deformities of the hands and feet, and unusual facies|hand and foot deformity-flat facies syndrome|hand and foot deformity with flat facies|hand and foot deformity - flat facies	http://purl.obolibrary.org/obo/MONDO_0007696		ORPHA:1927|MESH:C535626|UMLS:C1841693|http://identifiers.org/omim/139750
MONDO:0044689	recurrent idiopathic neuroretinitis	biolink:Disease	mondo	Orphanet:499103	ordo_disease	RINR	http://purl.obolibrary.org/obo/MONDO_0044689		ORPHA:499103
MONDO:0020652	immature teratoma of vulva	biolink:Disease	mondo	ONCOTREE:VIMT			http://purl.obolibrary.org/obo/MONDO_0020652		
MONDO:0020651	mixed germ cell tumor of vulva	biolink:Disease	mondo	ONCOTREE:VMGCT			http://purl.obolibrary.org/obo/MONDO_0020651		
MONDO:0005036	gastric adenocarcinoma	biolink:Disease	mondo	SCTID:408647009|ONCOTREE:STAD|NCIT:C4004|EFO:0000503|UMLS:C0278701|DOID:3717		STAD|adenocarcinoma of the stomach|adenocarcinoma of stomach|gastric (stomach) adenocarcinoma|adenocarcinoma - stomach|stomach adenocarcinoma|gastric adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005036	A carcinoma that arises from glandular epithelial cells of the stomach	UMLS:C0278701|SNOMEDCT:408647009|DOID:3717|NCIT:C4004
MONDO:0007697	hand clasping pattern	biolink:Disease	mondo	OMIM:139800		hand clasping pattern	http://purl.obolibrary.org/obo/MONDO_0007697		http://identifiers.org/omim/139800
MONDO:0044688	isolated optic neuritis	biolink:Disease	mondo	Orphanet:499096	ordo_disease	ion	http://purl.obolibrary.org/obo/MONDO_0044688		ORPHA:499096
HGNC:10978	SLC24A4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10978		
MONDO:0005031	fibromatosis	biolink:Disease	mondo	GARD:0006439|EFO:0000497|SCTID:723976005|NCIT:C3042		fibromatosis	http://purl.obolibrary.org/obo/MONDO_0005031	A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern.	SNOMEDCT:723976005|NCIT:C3042
MONDO:0007694	hairy nose tip	biolink:Disease	mondo	OMIM:139630|MESH:C535619|GARD:0008465	gard_rare	hairy nose tip|HNT	http://purl.obolibrary.org/obo/MONDO_0007694		MESH:C535619|http://identifiers.org/omim/139630
MONDO:0044683	limbic encephalitis with neurexin-3 antibodies	biolink:Disease	mondo	Orphanet:498700	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0044683		ORPHA:498700
MONDO:0020650	germ cell tumor of the vulva	biolink:Disease	mondo	ONCOTREE:VGCT			http://purl.obolibrary.org/obo/MONDO_0020650		
MONDO:0007695	hairy palms and soles	biolink:Disease	mondo	MESH:C535620|OMIM:139650|GARD:0008461	gard_rare	circumscribed hairy Dysembryoplasia of palms|hairy palms and soles|hairy cutaneous malformations of palms and soles|thickened hair-bearing skin on the palms of both hands	http://purl.obolibrary.org/obo/MONDO_0007695		MESH:C535620|http://identifiers.org/omim/139650
MONDO:0005030	fetal growth restriction	biolink:Disease	mondo	ICD9:764.99|ICD9:764.97|EFO:0000495|ICD9:764.96|ICD9:764.95|ICD9:764.94|ICD9:764.92|ICD9:764.90|ICD9:764.93|ICD9:764.91|MESH:D005317|COHD:80204|NCIT:C114875|ICD9:764.9|SCTID:22033007|ICD9:764.98		IUGR|intrauterine Growth retardation|fetus small for gestational Age|fetal small for gestational Age|intrauterine Growth restriction|fetal SGA|fetal Growth retardation|fetal growth retardation	http://purl.obolibrary.org/obo/MONDO_0005030	A fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age.	SNOMEDCT:22033007|NCIT:C114875|MESH:D005317|NCIT:C80083
MONDO:0044682	MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	biolink:Disease	mondo	Orphanet:498693	ordo_disease	MYBPC1-related autosomal recessive non-lethal AMC syndrome	http://purl.obolibrary.org/obo/MONDO_0044682		ORPHA:498693
MONDO:0005033	ganglioneuroma (disease)	biolink:Disease	mondo	ICD9:215.9|DOID:4817|ICDO:9490/0|NIFSTD:birnlex_12617|NCIT:C3049|MedDRA:10017709|HP:0003005|ICD10:D36.1|SCTID:116371000119107|EFO:0000500|ONCOTREE:GN|UMLS:C0017075|Orphanet:251992	ordo_disease	ganglioneuroma, benign|ganglioneuroma|ganglioneuroma (Schwannian Stroma-dominant)|neural Crest tumor, benign|GN	http://purl.obolibrary.org/obo/MONDO_0005033	A benign neuroblastic tumor of the sympathetic nervous system that occurs in childhood. Ganglioneuroma typically arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. Common presenting features include a palpable abdominal mass, hepatomegaly, and a thoracic mass detected on routine chest X-ray.	MEDDRA:10017709|DOID:4817|UMLS:C0017075|ORPHA:251992|NCIT:C3049|SNOMEDCT:116371000119107
MONDO:0007692	hairy ears	biolink:Disease	mondo	SCTID:89000008|OMIM:139500|MESH:C562484		hypertrichosis pinnae auris|hairy ears	http://purl.obolibrary.org/obo/MONDO_0007692		MESH:C562484|http://identifiers.org/omim/139500|SNOMEDCT:89000008
MONDO:0044685	autoimmune/inflammatory optic neuropathy	biolink:Disease	mondo	Orphanet:499047	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0044685		ORPHA:499047
MONDO:0007693	hypertrichosis cubiti-short stature syndrome	biolink:Disease	mondo	GARD:0000143|MedDRA:10068636|Orphanet:2220|ICD10:Q84.2|UMLS:C1841696|OMIM:139600|MESH:C535618	ordo_malformation_syndrome|gard_rare	hypertrichosis cubiti|hairy elbows|hairy elbows syndrome|MacDermot-Patton-Williams syndrome	http://purl.obolibrary.org/obo/MONDO_0007693	Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.	MESH:C535618|UMLS:C1841696|MEDDRA:10068636|ORPHA:2220|http://identifiers.org/omim/139600
MONDO:0044684	tuberculous meningitis	biolink:Disease	mondo	Orphanet:499004|SCTID:58437007	ordo_disease	tubercular meningitis|TBM	http://purl.obolibrary.org/obo/MONDO_0044684		ORPHA:499004|SNOMEDCT:58437007
MONDO:0005032	follicular thyroid adenoma	biolink:Disease	mondo	NCIT:C3502|DOID:6204|SCTID:255034006|UMLS:C0205647|ICDO:8330/0|EFO:0000499		follicular adenoma of the thyroid gland|thyroid gland adenoma|adenoma, follicular cell, benign|thyroid follicular adenoma|thyroid adenoma|follicular adenoma of thyroid gland|thyroid gland follicular adenoma|follicular adenoma of the thyroid|follicular thyroid adenoma|follicular adenoma of thyroid|follicular adenoma|thyroid follicle adenoma|adenoma of the thyroid gland|follicular adenoma (morphologic abnormality)|adenoma of thyroid gland|adenoma of the thyroid|adenoma of thyroid	http://purl.obolibrary.org/obo/MONDO_0005032	A benign, encapsulated tumor, arising from the follicular cells of the thyroid gland. It may be associated with thyroid hormone secretion but it does not have malignant characteristics.	UMLS:C0205647|NCIT:C3502|DOID:6204|SNOMEDCT:255034006
MONDO:0007690	aromatase excess syndrome	biolink:Disease	mondo	Orphanet:178345|GARD:12949|GARD:0012494|SCTID:709075008|OMIM:139300|ICD10:E30.1|MESH:C000591739|ICD9:259.8|DOID:0090122|UMLS:C1970109	gard_rare|ordo_disease	hereditary prepubertal gynecomastia|aromatase excess syndrome; AEXS|aromatase excess syndrome|aromatase activity, increased|increased aromatase activity|gynecomastia, hereditary|familial hyperestrogenism|AEXS|gynecomastia, familial, due to increased aromatase activity	http://purl.obolibrary.org/obo/MONDO_0007690	Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all.	MESH:C000591739|UMLS:C1970109|http://identifiers.org/omim/139300|ORPHA:178345|SNOMEDCT:709075008|DOID:0090122
HGNC:10982	SLC25A12	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10982		
MONDO:0007691	chronic inflammatory demyelinating polyneuropathy	biolink:Disease	mondo	GARD:0006102|OMIM:139393|ICD10:G61.8|MedDRA:10057645|Orphanet:2932|SCTID:716723000	ordo_disease	chronic inflammatory demyelinating polyradiculoneuropathy|polyneuropathy, inflammatory demyelinating, chronic|CIDP|polyneuropathy, inflammatory demyelinating, acute|Guillain-Barre syndrome, familial; GBS|chronic inflammatory demyelinating polyneuropathy|Guillain-Barre syndrome, familial	http://purl.obolibrary.org/obo/MONDO_0007691	Chronic inflammatory demyelinating polyneuropathy (CIDP) is a chronic monophasic, progressive or relapsing symmetric sensorimotor disorder characterized by progressive muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins.	MEDDRA:10057645|SNOMEDCT:716723000|http://identifiers.org/omim/139393|UMLS:C0393819|ORPHA:2932
NCBITaxon:140564	Ornithodoros parkeri	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_140564		
HGNC:10983	SLC25A13	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10983		
MONDO:0020649	warty carcinoma of the penis	biolink:Disease	mondo	NCIT:C6981|ONCOTREE:WPSCC		squamous cell carcinoma of the penis, warty type|condylomatous carcinoma of the penis|condylomatous carcinoma of penis|squamous cell carcinoma of penis, warty type|warty penile squamous cell carcinoma|warty carcinoma of the penis|warty carcinoma of penis|condylomatous squamous cell carcinoma of the penis|condylomatous squamous cell carcinoma of penis|squamous cell carcinoma of the penis, condylomatous type|squamous cell carcinoma of penis, condylomatous type|condylomatous penile squamous cell carcinoma|warty squamous cell carcinoma of the penis|warty squamous cell carcinoma of penis	http://purl.obolibrary.org/obo/MONDO_0020649	A squamous cell carcinoma that arises from the penis. It is characterized by a papillary growth pattern, hyperkeratosis and parakeratosis. Koilocytotic atypia is present. Human papillomavirus types 16 and 6 have been identified in some cases.	NCIT:C6981
MONDO:0020648	rubella encephalitis	biolink:Disease	mondo	SCTID:192689006			http://purl.obolibrary.org/obo/MONDO_0020648		SNOMEDCT:192689006
MONDO:0020647	microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	biolink:Disease	mondo	OMIM:618142		MFRG|microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome; MFRG	http://purl.obolibrary.org/obo/MONDO_0020647		http://identifiers.org/omim/618142
MONDO:0019669	hypochondrogenesis	biolink:Disease	mondo	DOID:0080044|Orphanet:93297|ICD10:Q77.0	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0019669		DOID:0080044|UMLS:C0542428|ORPHA:93297
MONDO:0017006	X and Y chromosomal anomaly	biolink:Disease	mondo	ICD10:Q98.8|Orphanet:263749	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017006		ORPHA:263749
MONDO:0017007	partial deletion of the long arm of chromosome X	biolink:Disease	mondo	Orphanet:263756|ICD10:Q99.8	ordo_group_of_disorders	partial monosomy of chromosome Xq|partial deletion of chromosome Xq|partial deletion of the long arm of chromosome type X|partial monosomy of the long arm of chromosome X	http://purl.obolibrary.org/obo/MONDO_0017007		ORPHA:263756
MONDO:0019668	adenoma of pancreas	biolink:Disease	mondo	GARD:0004204|UMLS:C4076724|UMLS:C1142432|MESH:C538110|MedDRA:10058902|Orphanet:93292|SCTID:208061000119101|ICD10:D13.6	ordo_disease	pancreatic adenoma|adenoma of the pancreas	http://purl.obolibrary.org/obo/MONDO_0019668		UMLS:C4076724|MESH:C538110|SNOMEDCT:208061000119101|MEDDRA:10058902|UMLS:C1142432|ORPHA:93292
MONDO:0020646	ocular adnexal lymphoma	biolink:Disease	mondo	UMLS:C2981712|NCIT:C88145		ocular adnexal lymphoma|OAL|non-Hodgkin lymphoma of ocular adnexa|ocular adnexa non-Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0020646	A non-Hodgkin lymphoma arising from the conjunctiva, lacrimal gland, lacrimal drainage apparatus, eyelids, or other orbital tissues around the eye. The vast majority of cases are extranodal marginal zone lymphomas of mucosa-associated lymphoid tissue, however, other histologic types of lymphomas can originate from ocular adnexal tissues, including rare cases of NK/T-cell lymphomas of nasal type.	UMLS:C2981712|NCIT:C88145
MONDO:0020645	autosomal dominant osteopetrosis	biolink:Disease	mondo	UMLS:C4272579|OMIMPS:607634		OPTA|osteopetrosis (disease), autosomal dominant|autosomal dominant osteopetrosis (disease)	http://purl.obolibrary.org/obo/MONDO_0020645	Autosomal dominant form of osteopetrosis (disease).	UMLS:C4272579
MONDO:0017008	partial duplication of chromosome X	biolink:Disease	mondo	ICD10:Q99.8|Orphanet:263768	ordo_group_of_disorders	partial trisomy of chromosome X|partial duplication of chromosome type X	http://purl.obolibrary.org/obo/MONDO_0017008		ORPHA:263768
HGNC:10985	SLC25A15	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10985		
MONDO:0020644	lung non-Hodgkin lymphoma	biolink:Disease	mondo	UMLS:C1334453|NCIT:C5684		lung non-Hodgkin lymphoma|primary lung non-Hodgkin's lymphoma|lung non-Hodgkin's lymphoma|non-Hodgkin lymphoma of lung	http://purl.obolibrary.org/obo/MONDO_0020644	A rare non-Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis. Representative examples include bronchial mucosa-associated lymphoid tissue lymphoma and diffuse large B-cell lymphoma.	NCIT:C5684|UMLS:C1334453
MONDO:0017009	partial duplication of the short arm of chromosome X	biolink:Disease	mondo	GARD:0012421|Orphanet:263775|ICD10:Q99.8	ordo_group_of_disorders	partial duplication of chromosome Xp|partial trisomy of the short arm of chromosome X|partial duplication of the short arm of chromosome type X|partial trisomy of chromosome Xp	http://purl.obolibrary.org/obo/MONDO_0017009		ORPHA:263775
MONDO:0030046	neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity	biolink:Disease	mondo	OMIM:618890		neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity|NEDBASS|NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS	http://purl.obolibrary.org/obo/MONDO_0030046		http://identifiers.org/omim/618890
MONDO:0019665	monostotic fibrous dysplasia (disease)	biolink:Disease	mondo	HP:0010736|UMLS:C0016064|ICD10:Q78.1|Orphanet:93277|SCTID:89859004|ICD10:M85.0|NCIT:C53971|MESH:D005358|ICD9:733.29	ordo_clinical_subtype	monostotic fibrous dysplasia|Jaffe-Lichtenstein disease|monostotic fibrous dysplasia of bone	http://purl.obolibrary.org/obo/MONDO_0019665	Fibrous dysplasia of bone involving only one bone.	NCIT:C53971|MESH:D005358|SNOMEDCT:89859004|UMLS:C0016064|ORPHA:93277
HGNC:19316	P3H1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19316		
MONDO:0017002	polysomy of X chromosome	biolink:Disease	mondo	Orphanet:263723	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017002		ORPHA:263723
MONDO:0019664	short rib-polydactyly syndrome, Verma-Naumoff type	biolink:Disease	mondo	MESH:C537602|UMLS:C0432197|ICD10:Q77.2|SCTID:254051008|Orphanet:93271|ICD9:759.89|GARD:0004835	ordo_malformation_syndrome	polydactyly with neonatal chondrodystrophy type III|SRPS type 3|short rib-polydactyly syndrome type III|Verma Naumoff syndrome|short rib polydactyly syndrome Verma Naumoff type|short rib-polydactyly syndrome type 3	http://purl.obolibrary.org/obo/MONDO_0019664	Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome, characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, anormal clocal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period.	MESH:C537602|UMLS:C0432197|ORPHA:93271|SNOMEDCT:254051008
MONDO:0017003	partial deletion of chromosome X	biolink:Disease	mondo	ICD10:Q99.8|Orphanet:263726	ordo_group_of_disorders	partial deletion of chromosome type X|partial monosomy of chromosome X	http://purl.obolibrary.org/obo/MONDO_0017003		ORPHA:263726
MONDO:0030045	Liberfarb syndrome	biolink:Disease	mondo	OMIM:618889		Spondyloepimetaphyseal Dysplasia, Liberfarb Type|Liberfarb syndrome|LIBF|LIBERFARB SYNDROME; LIBF	http://purl.obolibrary.org/obo/MONDO_0030045		http://identifiers.org/omim/618889
HGNC:19317	P3H2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19317		
MONDO:0019667	spondyloepiphyseal dysplasia tarda	biolink:Disease	mondo	ICD9:756.9|ICD10:Q77.7|SCTID:51952004|DOID:0080362|Orphanet:93284	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019667	Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.	DOID:0080362|SNOMEDCT:51952004|ORPHA:93284
MONDO:0017004	partial monosomy of the short arm of chromosome X	biolink:Disease	mondo	Orphanet:263731|ICD10:Q99.8	ordo_group_of_disorders	partial deletion of chromosome Xp|partial monosomy of the short arm of chromosome type X|partial monosomy of chromosome Xp|partial deletion of the short arm of chromosome X	http://purl.obolibrary.org/obo/MONDO_0017004		ORPHA:263731
MONDO:0030048	harderoporphyria	biolink:Disease	mondo	OMIM:618892		HARDEROPORPHYRIA; HARPO|HARPO|harderoporphyria	http://purl.obolibrary.org/obo/MONDO_0030048		http://identifiers.org/omim/618892
MONDO:0019666	spondyloepimetaphyseal dysplasia, PAPSS2 type	biolink:Disease	mondo	ICD10:Q77.7|Orphanet:93282|SCTID:719172003|OMIM:612847|DOID:0050812	ordo_disease	spondyloepimetaphyseal dysplasia Pakistani type|spondylodysplasia and premature pubarche|brachyolmia type 4 with mild epiphyseal and metaphyseal changes; BCYM4|spondyloepimetaphyseal dysplasia, Pakistani type|SEMD, Pakistani type|BCYM4|brachyolmia type 4 with mild epiphyseal and metaphyseal changes	http://purl.obolibrary.org/obo/MONDO_0019666	Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.	SNOMEDCT:719172003|http://identifiers.org/omim/612847|DOID:0050812|ORPHA:93282
MONDO:0030047	microcephaly, developmental delay, and brittle hair syndrome	biolink:Disease	mondo	OMIM:618891		MDBH|MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH|microcephaly, developmental delay, and brittle hair syndrome	http://purl.obolibrary.org/obo/MONDO_0030047		http://identifiers.org/omim/618891
MONDO:0017005	Y chromosome number anomaly	biolink:Disease	mondo	Orphanet:263746	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017005		ORPHA:263746
MONDO:0019661	Pfeiffer syndrome type 3	biolink:Disease	mondo	UMLS:CN206535|ICD10:Q87.0|Orphanet:93260	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0019661	Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities.	UMLS:CN206535|ORPHA:93260
HP:0002087	Abnormality of the upper respiratory tract	biolink:PhenotypicFeature	mondo	UMLS:C4025727		Abnormality of the upper respiratory tract|Upper respiratory tract issues	http://purl.obolibrary.org/obo/HP_0002087	An abnormality of the upper respiratory tract.	
MONDO:0030042	proteinuria, chronic benign	biolink:Disease	mondo	OMIM:618884		PROCHOB|proteinuria, chronic benign|PROTEINURIA, CHRONIC BENIGN; PROCHOB	http://purl.obolibrary.org/obo/MONDO_0030042		http://identifiers.org/omim/618884
FOODON:03411081	penaeid shrimp family	biolink:OntologyClass	mondo			Dendrobranchiata Bate, 1888|Natantia	http://purl.obolibrary.org/obo/FOODON_03411081	*Penaeidae* is a family of marine crustacean in the suborder *Dendrobranchiata*, which are often referred to as penaeid shrimp or penaeid prawn. It contains many species of economic importance, such as the tiger prawn, whiteleg shrimp, Atlantic white shrimp and Indian prawn. Many prawns are the subject of commercial fishery, and farming, both in marine settings, and in freshwater farms. [https://en.wikipedia.org/wiki/Penaeidae]	
HP:0002088	Abnormal lung morphology	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:19829001|MSH:D008171|UMLS:C4021760|UMLS:C0024115		Abnormally shaped lung|Abnormality of lung structure|Abnormality of the lungs|Unusal lung shape|Lung disease	http://purl.obolibrary.org/obo/HP_0002088	Any structural anomaly of the lung.	
MONDO:0019660	Pfeiffer syndrome type 2	biolink:Disease	mondo	ICD10:Q87.0|UMLS:CN206534|Orphanet:93259	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0019660	Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.	UMLS:CN206534|ORPHA:93259
MONDO:0019663	short rib-polydactyly syndrome, Saldino-Noonan type	biolink:Disease	mondo	ICD10:Q77.2|Orphanet:93270|GARD:0004834|DOID:0050549|SCTID:27330009	ordo_malformation_syndrome	type I short rib polydactyly syndrome|SRPS type 1|Saldino-Noonan syndrome|polydactyly with neonatal chondrodystrophy type 1|short rib-polydactyly syndrome Saldino-Noonan type|short rib-polydactyly syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0019663	Short rib-polydactyly syndrome (SRPS), Saldino-Noonan type is an extremely rare type of SRPS with neonatal onset characterized by polydactyly, hydropic appearance, and small thorax with short horizontal ribs causing fatal cardiorespiratory distress. Affected patients also have extreme micromelia (''flipper-like''extremities), pointed metaphyses, and a range of other ossification defects (vertebrae, calvaria, pelvis, hand and foot bones). Extraskeletal manifestations may include polycystic kidneys, transposition of the great vessels, and atresia of the gastrointestinal and genitourinary systems.	DOID:0050549|SNOMEDCT:27330009|ORPHA:93270
MONDO:0017000	obsolete X chromosome number anomaly with female phenotype	biolink:Disease	mondo	Orphanet:263717	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017000		ORPHA:263717
MONDO:0030044	pseudo-torch syndrome 3	biolink:Disease	mondo	OMIM:618886		PTORCH3|PSEUDO-TORCH SYNDROME 3; PTORCH3|pseudo-torch syndrome 3	http://purl.obolibrary.org/obo/MONDO_0030044		http://identifiers.org/omim/618886
MONDO:0019662	short rib-polydactyly syndrome, Majewski type	biolink:Disease	mondo	SCTID:72922008|ICD9:756.3|GARD:0004833|ICD10:Q77.2|Orphanet:93269	ordo_malformation_syndrome	SRPS type 2|polydactyly with neonatal chondrodystrophy type 2|short rib-polydactyly syndrome type 2|short rib-polydactyly syndrome Majewski type	http://purl.obolibrary.org/obo/MONDO_0019662		SNOMEDCT:72922008|ORPHA:93269
MONDO:0017001	obsolete X chromosome number anomaly with male phenotype	biolink:Disease	mondo	Orphanet:263720	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017001		ORPHA:263720
HP:0002086	Abnormality of the respiratory system	biolink:PhenotypicFeature	mondo	UMLS:C4018871		Respiratory abnormality	http://purl.obolibrary.org/obo/HP_0002086	An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.	
MONDO:0030043	congenital disorder of glycosylation, type iit	biolink:Disease	mondo	OMIM:618885		Cdg Iit|CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T	http://purl.obolibrary.org/obo/MONDO_0030043		http://identifiers.org/omim/618885
MONDO:0017071	thoracolumbosacral spina bifida cystica	biolink:Disease	mondo	Orphanet:268752	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017071		ORPHA:268752
MONDO:0032629	mitochondrial complex 1 deficiency, nuclear type 25	biolink:Disease	mondo	OMIM:618246		MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25; MC1DN25	http://purl.obolibrary.org/obo/MONDO_0032629		http://identifiers.org/omim/618246
HP:0100326	Immunologic hypersensitivity	biolink:PhenotypicFeature	mondo	UMLS:C0237653			http://purl.obolibrary.org/obo/HP_0100326	Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens.	
MONDO:0017072	lumbosacral spina bifida cystica	biolink:Disease	mondo	Orphanet:268758	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017072		ORPHA:268758
FOODON:03411017	oil-producing plant	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03411017		
MONDO:0032627	mitochondrial complex 1 deficiency, nuclear type 23	biolink:Disease	mondo	OMIM:618244		MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23; MC1DN23	http://purl.obolibrary.org/obo/MONDO_0032627		http://identifiers.org/omim/618244
MONDO:0017073	cervical spina bifida cystica	biolink:Disease	mondo	Orphanet:268762	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017073		ORPHA:268762
HP:0100324	Scleroderma	biolink:PhenotypicFeature	mondo	UMLS:C1274865|SNOMEDCT_US:89155008|UMLS:C0011644|SNOMEDCT_US:403524003|MSH:D012594		Pseudoscleroderma|Progressive systemic scleroderma	http://purl.obolibrary.org/obo/HP_0100324	A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin.	
MONDO:0017074	cervicothoracic spina bifida cystica	biolink:Disease	mondo	Orphanet:268766	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017074		ORPHA:268766
MONDO:0032628	mitochondrial complex 1 deficiency, nuclear type 24	biolink:Disease	mondo	OMIM:618245		MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24; MC1DN24	http://purl.obolibrary.org/obo/MONDO_0032628		http://identifiers.org/omim/618245
MONDO:0032625	mitochondrial complex 1 deficiency, nuclear type 21	biolink:Disease	mondo	OMIM:618242		MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21; MC1DN21	http://purl.obolibrary.org/obo/MONDO_0032625		http://identifiers.org/omim/618242
FOODON:03411013	plant used for producing extract or concentrate	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03411013		
MONDO:0032626	mitochondrial complex 1 deficiency, nuclear type 22	biolink:Disease	mondo	OMIM:618243		MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22; MC1DN22	http://purl.obolibrary.org/obo/MONDO_0032626		http://identifiers.org/omim/618243
MONDO:0032623	mitochondrial complex 1 deficiency, nuclear type 18	biolink:Disease	mondo	OMIM:618240		MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18; MC1DN18	http://purl.obolibrary.org/obo/MONDO_0032623		http://identifiers.org/omim/618240
MONDO:0032624	mitochondrial complex 1 deficiency, nuclear type 19	biolink:Disease	mondo	OMIM:618241		MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19; MC1DN19	http://purl.obolibrary.org/obo/MONDO_0032624		http://identifiers.org/omim/618241
MONDO:0017070	total spina bifida cystica	biolink:Disease	mondo	Orphanet:268748	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017070		ORPHA:268748
HGNC:22932	GMPPB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/22932		
MONDO:0005089	sarcoma	biolink:Disease	mondo	ICD9:171.8|ICD9:171.7|ICD9:171|ICD9:171.6|ICD9:171.5|ICD9:171.4|ICD9:171.3|ICD9:171.2|NCIT:C9118|DOID:1115|ICDO:8800/3|ICD9:171.0|SCTID:424413001|GARD:0012018|ICD10:C49|MESH:D012509|ICD9:171.9|EFO:0000691		sarcoma of soft tissue and bone|tumor of soft tissue and skeleton|sarcoma of the soft tissue and bone|sarcoma, malignant|sarcoma|connective and soft tissue neoplasm|mesenchymal tumor, malignant	http://purl.obolibrary.org/obo/MONDO_0005089	A usually aggressive malignant neoplasm of the soft tissue or bone. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the neoplasm. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma.	NCIT:C9118|MESH:D012509|DOID:1115|SNOMEDCT:424413001
HGNC:10947	SLC20A2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10947		
MONDO:0005086	renal cell carcinoma (disease)	biolink:Disease	mondo	SCTID:702391001|MESH:D002292|HP:0005584|ICD9:189.0|GARD:0013215|Orphanet:217071|MedDRA:10067946|EFO:0000681|DOID:4450|ONCOTREE:RCC	gard_rare|ordo_group_of_disorders	renal cell adenocarcinoma|renal cell carcinoma|kidney adenocarcinoma|RCC|adenocarcinoma of kidney|hypernephroma	http://purl.obolibrary.org/obo/MONDO_0005086	A carcinoma that arises from glandular epithelial cells of the kidney	SNOMEDCT:702391001|MESH:D002292|MEDDRA:10067946|UMLS:C0007134|DOID:4450|ORPHA:217071
MONDO:0005085	pterygium	biolink:Disease	mondo	DOID:0002116|EFO:0000678|ICD10:H11.009|SCTID:77489003|ICD10:H11.0|UMLS:C0033999|ICD9:372.4|COHD:375552|ICD9:372.40|MESH:D011625|NCIT:C133744|ICD10:H11.00		surfer's eye|pterygium of conjunctiva and cornea	http://purl.obolibrary.org/obo/MONDO_0005085	A wedge-shaped fibrovascular lesion arising from the bulbar conjunctiva and extending to the cornea. It is caused by chronic exposure to solar ultraviolet radiation, heat, and dust. It may cause severe vision loss. Studies have linked pterygium to neoplastic proliferation and suggest that it may be a stem cell disorder.	UMLS:C0033999|NCIT:C133744|MESH:D011625|DOID:0002116|SNOMEDCT:77489003
MONDO:0005088	obsolete rheumatoid arthritis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005088		
MONDO:0005087	respiratory system disease	biolink:Disease	mondo	ICD9:503|ICD9:508.9|SCTID:50043002|ICD9:519.8|ICD9:519|ICD9:508.8|ICD9:460-519.99|ICD9:517.8|ICD9:516.9|NCIT:C26871|ICD9:516.8|ICD9:519.3|ICD9:519.1|ICD9:508.1|ICD9:500-508.99|ICD10:J98|EFO:0000684|ICD9:519.9|ICD9:508|ICD9:V47.2|MESH:D012140|ICD9:517|ICD9:V12.60|ICD9:510-519.99|ICD9:516|ICD10:J96-J99|DOID:1579		disease of respiratory system|respiratory system disorder|disorder of respiratory system|disorder of respiratory system|disease or disorder of respiratory system|respiratory system disease|respiratory disorder|respiratory disease|respiratory system disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005087	A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma.	NCIT:C26871|MESH:D012140|SNOMEDCT:50043002|DOID:1579
MONDO:0005082	prostate adenocarcinoma	biolink:Disease	mondo	EFO:0000673|ONCOTREE:PRAD|SCTID:399490008|UMLS:C0007112|NCIT:C2919|DOID:2526		adenocarcinoma of prostate|prostate adenocarcinoma|adenocarcinoma of the prostate|prad|prostate gland adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005082	A carcinoma that arises from glandular epithelial cells of the prostate gland	SNOMEDCT:399490008|NCIT:C2919|UMLS:C0007112|DOID:2526
MONDO:0005081	preeclampsia	biolink:Disease	mondo	EFO:0000668|ICD10:O14.2|ICD10:O14.1|ICD10:O14.0|ICD9:642.40|MedDRA:10036485|ICD9:642.44|DOID:10591|ICD9:642.43|SCTID:398254007|ICD9:642.42|MESH:D011225|ICD9:642.41|Orphanet:275555|ICD10:O14.90|NCIT:C85021|ICD10:O14|OMIMPS:189800|ICD10:O14.9	ordo_disease	pre-eclampsia|preeclampsia/eclampsia|pregnancy associated hypertension|proteinuric hypertension of pregnancy|pre-eclamptic toxaemia|preeclampsia|pregnancy toxemia|hypertension induced by pregnancy|toxaemia of pregnancy|gestational hypertension	http://purl.obolibrary.org/obo/MONDO_0005081	Preeclampsia is a hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia.	MEDDRA:10036485|UMLS:C0032914|MESH:D011225|SNOMEDCT:398254007|NCIT:C85021|ORPHA:275555|DOID:10591
MONDO:0005084	mental disorder	biolink:Disease	mondo	ICD10:F00.F99|ICD9:290-299.99|ICD9:V11.9|SCTID:74732009|EFO:0000677|NIFSTD:birnlex_12669|UMLS:CN240636|ICD9:298.8		mental process disease|disorder of mental process|disorder of mental process|mental or behavioural disorder	http://purl.obolibrary.org/obo/MONDO_0005084	A disease that has its basis in the disruption of mental process.	SNOMEDCT:74732009|UMLS:CN240636
MONDO:0005083	psoriasis	biolink:Disease	mondo	NCIT:C3346|MESH:D011565|ICD10:L40.9|ICD9:696.1|COHD:140168|UMLS:C0033860|ICD9:696|DOID:8893|EFO:0000676|ICD10:L40|GARD:0010262|ICD9:696.8|OMIMPS:177900|ICD9:696.5|SCTID:9014002			http://purl.obolibrary.org/obo/MONDO_0005083	An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp.	UMLS:C0033860|NCIT:C3346|DOID:8893|MESH:D011565|SNOMEDCT:9014002
NCBITaxon:32525	Theria <Mammalia>	organism taxon	mondo	GC_ID:1		Theria	http://purl.obolibrary.org/obo/NCBITaxon_32525		
MONDO:0005080	portal hypertension	biolink:Disease	mondo	NCIT:C3119|UMLS:C0020541|SCTID:34742003|ICD9:572.3|DOID:10762|EFO:0000666|MESH:D006975|COHD:192680|GARD:0008229|ICD10:K76.6			http://purl.obolibrary.org/obo/MONDO_0005080	Increased blood pressure in the portal venous system. It is most commonly caused by cirrhosis. Other causes include portal vein thrombosis, Budd-Chiari syndrome, and right heart failure. Complications include ascites, esophageal varices, encephalopathy, and splenomegaly.	SNOMEDCT:34742003|MESH:D006975|NCIT:C3119|DOID:10762|UMLS:C0020541
MONDO:0032632	mitochondrial complex 1 deficiency, nuclear type 28	biolink:Disease	mondo	OMIM:618249		MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28; MC1DN28	http://purl.obolibrary.org/obo/MONDO_0032632		http://identifiers.org/omim/618249
MONDO:0017079	meningoencephalocele	biolink:Disease	mondo	GARD:0003473|ICD10:Q01.2|ICD10:Q01.1|ICD10:Q01.0|SCTID:52330001|Orphanet:268820|ICD10:Q01.9|ICD10:Q01.8|NCIT:C124517|UMLS:C0009694	gard_rare|ordo_morphological_anomaly	meningoencephalocele|brain meninx cephalocele (disease)|cranial meningocele|encephalomeningocele|cephalocele (disease) of brain meninx	http://purl.obolibrary.org/obo/MONDO_0017079	A congenital abnormality in which the meninges protrude through a defect in the cranium.	SNOMEDCT:52330001|NCIT:C124517|UMLS:C0009694|ORPHA:268820
MONDO:0032633	mitochondrial complex 1 deficiency, nuclear type 29	biolink:Disease	mondo	OMIM:618250		MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29; MC1DN29	http://purl.obolibrary.org/obo/MONDO_0032633		http://identifiers.org/omim/618250
HGNC:22923	GMPPA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/22923		
MONDO:0032630	mitochondrial complex 1 deficiency, nuclear type 26	biolink:Disease	mondo	OMIM:618247		MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26; MC1DN26	http://purl.obolibrary.org/obo/MONDO_0032630		http://identifiers.org/omim/618247
NCBITaxon:32524	Amniota	organism taxon	mondo	GC_ID:1		amniotes	http://purl.obolibrary.org/obo/NCBITaxon_32524		
MONDO:0032631	mitochondrial complex 1 deficiency, nuclear type 27	biolink:Disease	mondo	OMIM:618248		MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27; MC1DN27	http://purl.obolibrary.org/obo/MONDO_0032631		http://identifiers.org/omim/618248
NCBITaxon:32523	Tetrapoda	organism taxon	mondo	GC_ID:1		tetrapods	http://purl.obolibrary.org/obo/NCBITaxon_32523		
MONDO:0017075	upper thoracic spina bifida cystica	biolink:Disease	mondo	Orphanet:268770	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017075		ORPHA:268770
MONDO:0017076	posterior meningocele	biolink:Disease	mondo	UMLS:CN202439|ICD10:Q05.9|ICD10:Q05.8|Orphanet:268810|ICD10:Q05.7|ICD10:Q05.6|ICD10:Q05.4|ICD10:Q05.3|ICD10:Q05.2|ICD10:Q05.1	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0017076	Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region.	UMLS:CN202439|ORPHA:268810
GO:0032594	protein transport within lipid bilayer	biolink:OntologyClass	mondo			protein translocation within membrane|receptor translocation within membrane|receptor transport within lipid bilayer	http://purl.obolibrary.org/obo/GO_0032594	The directed movement of a protein from one location to another within a lipid bilayer.	
MONDO:0017077	myelocystocele	biolink:Disease	mondo	ICD10:Q05.2|ICD10:Q05.1|ICD10:Q05.0|SCTID:203994003|Orphanet:268813|ICD10:Q05.9|ICD10:Q05.8|ICD10:Q05.7|ICD10:Q05.6|ICD10:Q05.5|ICD10:Q05.4|ICD10:Q05.3	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0017077		SNOMEDCT:203994003|ORPHA:268813
MONDO:0017078	cephalocele (disease)	biolink:Disease	mondo	ICD10:Q01.9|Orphanet:268817|ICD10:Q01.8|ICD10:Q01.2|HP:0011815|ICD10:Q01.0|SCTID:55999004|ICD10:Q01.1|ICD9:742.0|NCIT:C84687	ordo_group_of_disorders	cranium bifidum|encephalocele|cephalocele|encephalocele	http://purl.obolibrary.org/obo/MONDO_0017078	A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used.	NCIT:C84687|SNOMEDCT:55999004|ORPHA:268817
GO:0032592	integral component of mitochondrial membrane	biolink:OntologyClass	mondo			integral to mitochondrial membrane	http://purl.obolibrary.org/obo/GO_0032592	The component of the mitochondrial membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.	
MONDO:0017060	open iniencephaly	biolink:Disease	mondo	SCTID:203928008|ICD10:Q00.2|Orphanet:268363	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017060		ORPHA:268363|SNOMEDCT:203928008|UMLS:C0431285
MONDO:0017061	closed iniencephaly	biolink:Disease	mondo	Orphanet:268366|SCTID:203927003|ICD10:Q00.2	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017061		ORPHA:268366|SNOMEDCT:203927003|UMLS:C0431286
MONDO:0017062	spina bifida aperta	biolink:Disease	mondo	ICD10:Q05.9|ICD10:Q05.8|ICD10:Q05.7|ICD10:Q05.6|ICD10:Q05.5|Orphanet:268369|UMLS:CN202421|ICD10:Q05.4|ICD10:Q05.3|ICD10:Q05.2|ICD10:Q05.1|ICD10:Q05.0|SCTID:58557008	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0017062		SNOMEDCT:58557008|UMLS:CN202421|ORPHA:268369
MONDO:0032639	deafness, autosomal recessive 112	biolink:Disease	mondo	DOID:0111637|OMIM:618257		DEAFNESS, AUTOSOMAL RECESSIVE 112; DFNB112	http://purl.obolibrary.org/obo/MONDO_0032639		http://identifiers.org/omim/618257|DOID:0111637
MONDO:0017063	total spina bifida aperta	biolink:Disease	mondo	UMLS:CN202422|Orphanet:268377	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017063		UMLS:CN202422|ORPHA:268377
MONDO:0032636	mitochondrial complex 1 deficiency, nuclear type 33	biolink:Disease	mondo	OMIM:618253		MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33; MC1DN33	http://purl.obolibrary.org/obo/MONDO_0032636		http://identifiers.org/omim/618253
MONDO:0032637	ciliary dyskinesia, primary, 39	biolink:Disease	mondo	OMIM:618254		CILIARY DYSKINESIA, PRIMARY, 39; CILD39|Ciliary Dyskinesia, Primary, 39, With or Without Situs Inversus	http://purl.obolibrary.org/obo/MONDO_0032637		http://identifiers.org/omim/618254
MONDO:0032634	mitochondrial complex 1 deficiency, nuclear type 31	biolink:Disease	mondo	OMIM:618251		MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31	http://purl.obolibrary.org/obo/MONDO_0032634		http://identifiers.org/omim/618251
FOODON:03411021	fish or lower water animal	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03411021	An aquatic animal is an animal, either vertebrate or invertebrate, which lives in the water for most or all of its lifetime.	
MONDO:0032635	mitochondrial complex 1 deficiency, nuclear type 32	biolink:Disease	mondo	OMIM:618252		MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32; MC1DN32	http://purl.obolibrary.org/obo/MONDO_0032635		http://identifiers.org/omim/618252
MONDO:0044621	16p12.1p12.3 triplication syndrome	biolink:Disease	mondo	Orphanet:485405	ordo_malformation_syndrome	tetrasomy 16p12.1-p12.3|trip(16)(p12.1p12.3)|tetrasomy 16p12.1p12.3	http://purl.obolibrary.org/obo/MONDO_0044621	16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers.	ORPHA:485405
HGNC:10955	SLCO2A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10955		
MONDO:0044622	EMILIN-1-related connective tissue disease	biolink:Disease	mondo	Orphanet:485418	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0044622		ORPHA:485418
MONDO:0005097	squamous cell lung carcinoma	biolink:Disease	mondo	ONCOTREE:LUSC|NCIT:C3493|SCTID:254634000|DOID:3907|UMLS:C0149782|EFO:0000708|ICD9:162.9		squamous cell lung carcinoma|squamous cell lung cancer|epidermoid cell carcinoma of the lung|squamous cell carcinoma of the lung|lung squamous cell carcinoma|epidermoid cell lung carcinoma|epidermoid cell carcinoma of lung|squamous cell carcinoma of lung	http://purl.obolibrary.org/obo/MONDO_0005097	A carcinoma arising from squamous bronchial epithelial cells. It may be keratinizing or non-keratinizing. Keratinizing squamous cell carcinoma is characterized by the presence of keratinization, pearl formation, and/or intercellular bridges. Non-keratinizing squamous cell carcinoma is characterized by the absence of keratinization, pearl formation, and intercellular bridges. Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma.	UMLS:C0149782|NCIT:C3493|SNOMEDCT:254634000|DOID:3907
MONDO:0005096	squamous cell carcinoma	biolink:Disease	mondo	MESH:D002294|ICDO:8070/3|GARD:0001091|NCIT:C2929|UMLS:C0007137|DOID:1749|EFO:0000707|SCTID:402815007		squamous cell carcinoma|malignant epidermoid cell neoplasm|squamous cell epithelioma|carcinoma, squamous cell, malignant|squamous cell carcinoma NOS (morphologic abnormality)|malignant squamous cell tumor|squamous cell carcinoma (morphologic abnormality)|squamous carcinoma|malignant epidermoid cell tumor|malignant squamous cell neoplasm|squamous cell cancer|epidermoid cell cancer|epidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0005096	A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells. Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma.	MESH:D002294|SNOMEDCT:402815007|NCIT:C2929|UMLS:C0007137|DOID:1749
MONDO:0005099	subarachnoid hemorrhage (disease)	biolink:Disease	mondo	EFO:0000713|SCTID:21454007|UMLS:C0038525|COHD:432923|MESH:D013345|ICD9:430|HP:0002138		subarachnoid hemorrhage	http://purl.obolibrary.org/obo/MONDO_0005099	Intracranial hemorrhage into the subarachnoid space.	MESH:D013345|UMLS:C0038525|NCIT:C50757|SNOMEDCT:21454007
HGNC:10959	SLCO1B1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10959		
MONDO:0005098	stroke disorder	biolink:Disease	mondo	EFO:0000712|NCIT:C3390|SCTID:230690007|MESH:D020521|NIFSTD:birnlex_12783|HP:0001297		cerebral infarction|CVA|CVA, cerebrovascular accident|cerebrovascular accident|undetermined stroke|syndrome, stroke|cerebrovascular accident, (CVA)|stroke syndrome|stroke	http://purl.obolibrary.org/obo/MONDO_0005098	A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event.	NCIT:C3390|SNOMEDCT:230690007|MESH:D020521
MONDO:0005093	skin disease	biolink:Disease	mondo	ICD9:702.8|DOID:37|SCTID:95320005|MESH:D012871|ICD9:709.8|ICD9:702|NCIT:C3371|EFO:0000701		disease of zone of skin|disorder of skin|disease or disorder of zone of skin|disorder of zone of skin|skin disorder|zone of skin disease|dermatosis|skin diseases and manifestations|genodermatosis|zone of skin disease or disorder|disorder of zone of skin|cutaneous disorder|skin and subcutaneous tissue disease	http://purl.obolibrary.org/obo/MONDO_0005093	Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs.	MESH:D012871|DOID:37|SNOMEDCT:95320005|NCIT:C3371
MONDO:0044618	CLCN4-related X-linked intellectual disability syndrome	biolink:Disease	mondo	Orphanet:485350	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0044618		ORPHA:485350
NCBITaxon:32519	Ostariophysi	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_32519		
MONDO:0005092	signet ring cell carcinoma	biolink:Disease	mondo	NCIT:C3774|ICDO:8490/3|EFO:0000698|DOID:3493|MESH:D018279|UMLS:C0206696		signet ring cell carcinoma (morphologic abnormality)|signet ring cell adenocarcinoma|signet ring cell carcinoma|signet ring carcinoma NOS (morphologic abnormality)|signet ring carcinoma	http://purl.obolibrary.org/obo/MONDO_0005092	A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland.	NCIT:C3774|UMLS:C0206696|DOID:3493|MESH:D018279
MONDO:0044617	X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome	biolink:Disease	mondo	Orphanet:482606	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0044617		ORPHA:482606
HGNC:10961	SLCO1B3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10961		
MONDO:0005095	spondyloarthropathy	biolink:Disease	mondo	NCIT:C116778|DOID:1123|GARD:0004971|EFO:0000706	gard_rare	spondyloarthritis|spondylarthropathy|spondylarthrosis|seronegative spondyloarthropathy|spondarthropathy	http://purl.obolibrary.org/obo/MONDO_0005095	A group of inflammatory rheumatic diseases associated with arthritis and enthesitis, and often involving the axial skeleton. The most common form of spondyloarthritis is ankylosing spondylitis. Other forms include axial spondyloarthritis, peripheral spondyloarthritis, reactive arthritis, psoriatic arthritis/spondylitis and enteropathic arthritis/spondylitis.	NCIT:C116778|DOID:1123
MONDO:0005094	hemangiopericytoma	biolink:Disease	mondo	DOID:264|MESH:D006393|SCTID:134335004|NCIT:C3087|ICDO:9150/1		hemangiopericytoma, malignant|haemangiopericytic meningioma|malignant hemangiopericytoma|hemangiopericytoma, malignant (morphologic abnormality)|haemangiopericytic meningioma [obs]|hemangiopericytoma	http://purl.obolibrary.org/obo/MONDO_0005094	An antiquated term that refers to benign or malignant mesenchymal neoplasms characterized by the presence of neoplastic spindle-shaped to round cells arranged around thin-walled branching vascular spaces.	SNOMEDCT:134335004|DOID:264|MESH:D006393|NCIT:C3087
MONDO:0044619	propylthiouracil embryofetopathy	biolink:Disease	mondo	Orphanet:485358	ordo_malformation_syndrome	propylthiouracil embryopathy|PTU embryopathy|PTU embryofetopathy	http://purl.obolibrary.org/obo/MONDO_0044619	Propylthiouracil embryofetopathy is a rare teratologic disease characterized by variable congenital anomalies resulting from maternal treatment and prenatal exposure to propylthiouracil. Anomalies frequently encountered include ear malformations (e.g. accessory auricle, preauricular sinus/fistula/cyst), urinary system malformations (e.g. isolated unilateral kidney, congenital hydronephrosis), gastrointestinal anomalies (e.g. congenital bands with intestinal malrotation) and cardiac defects (e.g. situs inversus dextrocardia, cardiac outflow tract defects).	ORPHA:485358
MONDO:0029042	obsolete ureteropelvic junction obstruction	biolink:Disease	mondo	DOID:0111145			http://purl.obolibrary.org/obo/MONDO_0029042		DOID:0111145
HGNC:10964	SLC22A18	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10964		
MONDO:0005091	severe acute respiratory syndrome	biolink:Disease	mondo	ICD10:U04.9|ICD10:J12.81|MESH:D045169|NCIT:C85064|EFO:0000694|SCTID:398447004|DOID:2945|MedDRA:10061982|ICD9:079.82|GARD:0009237|Orphanet:140896|UMLS:C1175175	ordo_disease	SARS coronavirus caused disease or disorder|acute respiratory coronavirus infection|SARS|SARS coronavirus disease or disorder|SARS-CoV infection|SARS coronavirus infectious disease	http://purl.obolibrary.org/obo/MONDO_0005091	A viral respiratory infection caused by the SARS coronavirus. It is transmitted through close person-to-person contact. It is manifested with high fever, headache, dry cough and myalgias. It may progress to pneumonia and cause death.	UMLS:C1175175|ORPHA:140896|NCIT:C85064|SNOMEDCT:398447004|DOID:2945|MESH:D045169|MEDDRA:10061982
MONDO:0005090	schizophrenia (disease)	biolink:Disease	mondo	ICD9:295|NCIT:C3362|ICD9:295.90|ICD9:295.9|OMIM:181500|SCTID:58214004|ICD9:295.80|EFO:0000692|DOID:5419|HP:0100753|ICD9:295.85|NIFSTD:birnlex_2104|ICD9:295.8		schizophrenia with or without an affective disorder|schizophrenia|schizophrenia-1|SCZD|schizophrenia; SCZD|schizoaffective disorder	http://purl.obolibrary.org/obo/MONDO_0005090	A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality.	DOID:5419|http://identifiers.org/omim/181500|SNOMEDCT:58214004|NCIT:C3362
MONDO:0032643	pontocerebellar hypoplasia, type 12	biolink:Disease	mondo	OMIM:618266		PONTOCEREBELLAR HYPOPLASIA, TYPE 12; PCH12	http://purl.obolibrary.org/obo/MONDO_0032643		http://identifiers.org/omim/618266
MONDO:0017068	upper thoracic spina bifida aperta	biolink:Disease	mondo	UMLS:CN202428|Orphanet:268740	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017068		UMLS:CN202428|ORPHA:268740
MONDO:0017069	spina bifida cystica	biolink:Disease	mondo	ICD10:Q05.2|ICD10:Q05.1|ICD10:Q05.0|MedDRA:10071011|NCIT:C101201|ICD10:Q05.9|ICD10:Q05.8|MESH:D016137|Orphanet:268744|ICD10:Q05.7|ICD10:Q05.6|ICD10:Q05.5|ICD10:Q05.4|ICD10:Q05.3	ordo_group_of_disorders	myelomeningocele|spina bifida aperta|myelomeningocele|open spina bifida|spina bifida manifesta|meningomyelocele|spina bifida, open	http://purl.obolibrary.org/obo/MONDO_0017069	A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface.	MESH:D016137|MEDDRA:10071011|ORPHA:268744|NCIT:C101201|UMLS:C0037917
MONDO:0032644	epidermodysplasia verruciformis, susceptibility to, 3	biolink:Disease	mondo	OMIM:618267		EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3; EV3	http://purl.obolibrary.org/obo/MONDO_0032644		http://identifiers.org/omim/618267
MONDO:0032641	mirror movements 4	biolink:Disease	mondo	OMIM:618264		MIRROR MOVEMENTS 4; MRMV4	http://purl.obolibrary.org/obo/MONDO_0032641		http://identifiers.org/omim/618264
MONDO:0032642	arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	biolink:Disease	mondo	Orphanet:565858|OMIM:618265		ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT; ACCIID	http://purl.obolibrary.org/obo/MONDO_0032642		ORPHA:565858|http://identifiers.org/omim/618265
MONDO:0017064	thoracolumbosacral spina bifida aperta	biolink:Disease	mondo	Orphanet:268384|UMLS:CN202423	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017064		UMLS:CN202423|ORPHA:268384
MONDO:0017065	lumbosacral spina bifida aperta	biolink:Disease	mondo	UMLS:CN202424|Orphanet:268388	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017065		UMLS:CN202424|ORPHA:268388
HGNC:22938	NLRP12	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/22938		
MONDO:0017066	cervical spina bifida aperta	biolink:Disease	mondo	ICD9:741.91|SCTID:425687007|Orphanet:268392|UMLS:CN202425	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017066		UMLS:CN202425|SNOMEDCT:425687007|ORPHA:268392
MONDO:0017067	cervicothoracic spina bifida aperta	biolink:Disease	mondo	Orphanet:268397|UMLS:CN202426	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017067		UMLS:CN202426|ORPHA:268397
MONDO:0017050	intraocular medulloepithelioma	biolink:Disease	mondo	UMLS:CN202409|NCIT:C66806|Orphanet:268139|UMLS:C1883694	ordo_disease	orbital medulloepithelioma|intraocular medulloepithelioma	http://purl.obolibrary.org/obo/MONDO_0017050	Intraocular medulloepithelioma is a rare eye tumor characterized by a white, gray or yellow-colored cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disc, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye color, hyphema, and raised intraocular pressure are also remarkable manifestations.	NCIT:C66806|ORPHA:268139|UMLS:CN202409|UMLS:C1883694
MONDO:0032649	hypotrichosis 14	biolink:Disease	mondo	DOID:0080582|OMIM:618275		HYPOTRICHOSIS 14; HYPT14	http://purl.obolibrary.org/obo/MONDO_0032649		http://identifiers.org/omim/618275|DOID:0080582
MONDO:0017051	classic maple syrup urine disease	biolink:Disease	mondo	ICD10:E71.0|Orphanet:268145	ordo_clinical_subtype	classic branched-chain ketoaciduria|classic MSUD|classic BCKD deficiency|classic branched-chain 2-ketoacid dehydrogenase deficiency|classic branched-chain alpha-ketoacid dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0017051	Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.	UMLS:C0268568|ORPHA:268145
MONDO:0017052	intermediate maple syrup urine disease	biolink:Disease	mondo	Orphanet:268162|SCTID:405287008|ICD10:E71.0	ordo_clinical_subtype	Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency|Intermediate MSUD|Intermediate BCKD deficiency|Intermediate branched-chain 2-ketoacid dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0017052	Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation.	SNOMEDCT:405287008|ORPHA:268162|UMLS:C1621920
MONDO:0032647	global developmental delay, lung cysts, overgrowth, and wilms tumor	biolink:Disease	mondo	OMIM:618272		GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR; GLOW|Glow Syndrome	http://purl.obolibrary.org/obo/MONDO_0032647		http://identifiers.org/omim/618272
MONDO:0032648	mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	biolink:Disease	mondo	DOID:0111403|OMIM:618273		MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS; MCCCHCM	http://purl.obolibrary.org/obo/MONDO_0032648		DOID:0111403|http://identifiers.org/omim/618273
MONDO:0032645	trichohepatoneurodevelopmental syndrome	biolink:Disease	mondo	OMIM:618268		TRICHOHEPATONEURODEVELOPMENTAL SYNDROME; THNS	http://purl.obolibrary.org/obo/MONDO_0032645		http://identifiers.org/omim/618268
MONDO:0032646	congenital anomalies of kidney and urinary tract 3	biolink:Disease	mondo	OMIM:618270		CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3; CAKUT3	http://purl.obolibrary.org/obo/MONDO_0032646		http://identifiers.org/omim/618270
ENVO:00003075	obsolete anthropogenic abiotic mesoscopic feature	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_00003075		
ENVO:00003074	manufactured product	biolink:OntologyClass	mondo			manufactured good	http://purl.obolibrary.org/obo/ENVO_00003074	A material entity that has been processed by humans or their technology in any way, including intermediate products as well as final products.	
MONDO:0005068	myocardial infarction (disease)	biolink:Disease	mondo	EFO:0000612|DOID:5844|NCIT:C27996|ICD10:I21|MESH:D009203|SCTID:22298006|ICD10:I22|UMLS:C0027051|HP:0001658		myocardial infarction|heart attack|myocardial infarction, (MI)|infarction (MI), myocardial|myocardial infarct|MI, myocardial infarction|MI	http://purl.obolibrary.org/obo/MONDO_0005068	Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis.	SNOMEDCT:22298006|NCIT:C27996|UMLS:C0027051|MESH:D009203|DOID:5844
MONDO:0044632	extracranial carotid artery aneurysm	biolink:Disease	mondo	Orphanet:494424	ordo_morphological_anomaly	Ecca|ECAA	http://purl.obolibrary.org/obo/MONDO_0044632		ORPHA:494424
MONDO:0005067	monophasic synovial sarcoma	biolink:Disease	mondo	UMLS:C1334801|NCIT:C6534|EFO:0000595|DOID:5495		monophasic synovial sarcoma|monophasic sarcoma of synovium|monophasic sarcoma of the synovium	http://purl.obolibrary.org/obo/MONDO_0005067	A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only.	NCIT:C6534|UMLS:C1334801|DOID:5495
MONDO:0044631	early-onset familial noncirrhotic portal hypertension	biolink:Disease	mondo	Orphanet:494348	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0044631		ORPHA:494348
MONDO:0044634	retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome	biolink:Disease	mondo	OMIM:617763|UMLS:C4540367|Orphanet:494439	ordo_malformation_syndrome	retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0044634		http://identifiers.org/omim/617763|UMLS:C4540367|ORPHA:494439
HGNC:10922	SLC16A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10922		
HGNC:10923	SLC16A2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10923		
MONDO:0005069	obsolete narcolepsy with cataplexy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005069		
MONDO:0044633	idiopathic pleuroparenchymal fibroelastosis	biolink:Disease	mondo	Orphanet:494428	ordo_disease	idiopathic pleuropulmonary fibroelastosis|IPPFE	http://purl.obolibrary.org/obo/MONDO_0044633		ORPHA:494428
MONDO:0005064	obsolete infectious meningitis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005064		
MONDO:0005063	medullary breast carcinoma	biolink:Disease	mondo	EFO:0000580|DOID:5605|NCIT:C9119|UMLS:C0860580|ICDO:8512/3		medullary breast cancer|infiltrating medullary carcinoma of breast|infiltrating medullary carcinoma of the breast|medullary breast carcinoma|medullary breast carcinoma with lymphoid Stroma|invasive medullary carcinoma of breast|invasive medullary carcinoma of the breast|invasive medullary breast carcinoma|medullary carcinoma of breast|breast medullary carcinoma|medullary carcinoma of the breast	http://purl.obolibrary.org/obo/MONDO_0005063	An infiltrating breast carcinoma with a relatively favorable prognosis. It is an uncommon carcinoma, accounting for less than 1% of all infiltrating breast carcinomas. It is well circumscribed, with soft cut surface and often of considerable size. Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells. The malignant cells are round with abundant cytoplasm and vesicular nuclei. The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate. Glandular or tubular structures are absent.	NCIT:C9119|DOID:5605|UMLS:C0860580
MONDO:0005066	metabolic disease	biolink:Disease	mondo	ICD9:277.8|ICD9:277.9|UMLS:C0025517|ICD10:E70.E90|COHD:436670|DOID:0014667|NCIT:C3235|EFO:0000589|MESH:D008659|ICD10:E88.9|SCTID:75934005		disease of metabolism|disorder of metabolic process|metabolic disorder|disorder of metabolic process|metabolic disease|metabolic process disease	http://purl.obolibrary.org/obo/MONDO_0005066	A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process.	DOID:0014667|NCIT:C3235|UMLS:C0025517|MESH:D008659|SNOMEDCT:75934005
MONDO:0044630	obsolete rere-related neurodevelopmental syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0044630		
MONDO:0005065	mesothelioma	biolink:Disease	mondo	UMLS:C0025500|MESH:D008654|EFO:0000588|NCIT:C3234|ICD10:C45		mesothelioma	http://purl.obolibrary.org/obo/MONDO_0005065	A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos.	NCIT:C3234|UMLS:C0025500|MESH:D008654
MONDO:0005060	liposarcoma	biolink:Disease	mondo	MedDRA:10024627|ONCOTREE:LIPO|SCTID:254829001|EFO:0000569|ICD9:171.9|Orphanet:69078|MESH:D008080|ICDO:8850/3|DOID:3382|UMLS:C0023827|GARD:0006913|NCIT:C3194|ICD10:C49.9	gard_rare|ordo_disease	liposarcoma|liposarcoma, malignant|sarcoma of lip|lip sarcoma|liposarcoma not otherwise specified	http://purl.obolibrary.org/obo/MONDO_0005060	A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid liposarcoma. The metastatic potential is higher in less differentiated tumors.	NCIT:C3194|ORPHA:69078|MEDDRA:10024627|MESH:D008080|SNOMEDCT:254829001|DOID:3382|UMLS:C0023827
MONDO:0044629	congenital amyoplasia	biolink:Disease	mondo	Orphanet:488586	ordo_malformation_syndrome	amyoplasia congenita	http://purl.obolibrary.org/obo/MONDO_0044629		ORPHA:488586
MONDO:0044628	six2-related frontonasal dysplasia	biolink:Disease	mondo	Orphanet:488437	ordo_malformation_syndrome	SIX2-related FND	http://purl.obolibrary.org/obo/MONDO_0044628		ORPHA:488437
MONDO:0005062	lymphoma	biolink:Disease	mondo	COHD:432571|ICD9:202.80|ICD10:C85.9|ICD9:200.1|GARD:0011955|ICD9:200.0|MESH:D008223|UMLS:C0024299|DOID:0060058|Orphanet:223735|NCIT:C3208|MedDRA:10025310|EFO:0000574|SCTID:118600007|ONCOTREE:MLYM|ICDO:9590/3	ordo_group_of_disorders	malignant lymphoma|lymphomatous|lymphoma (Hodgkin's and non-Hodgkin's)|lymphoma|lymphoma, malignant|lymphoma, NOS|MLYM|lymphoma (Hodgkin and non-Hodgkin)|lymphoid cancer	http://purl.obolibrary.org/obo/MONDO_0005062	A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas.	SNOMEDCT:118600007|ORPHA:223735|NCIT:C3208|MEDDRA:10025310|MESH:D008223|UMLS:C0024299|DOID:0060058
MONDO:0005061	lung adenocarcinoma	biolink:Disease	mondo	ONCOTREE:LUAD|DOID:3910|UMLS:C0152013|MESH:C538231|EFO:0000571|NCIT:C3512|GARD:0005742|SCTID:254626006|EFO:0005288	gard_rare	lung adenocarcinoma|bronchogenic lung adenocarcinoma|adenocarcinoma of lung|non-small cell lung adenocarcinoma|nonsmall cell adenocarcinoma|adenocarcinoma of the lung	http://purl.obolibrary.org/obo/MONDO_0005061	A carcinoma that arises from the lung and is characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor.	UMLS:C0152013|SNOMEDCT:254626006|NCIT:C3512|MESH:C538231|DOID:3910
MONDO:0044625	autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation	biolink:Disease	mondo	Orphanet:487814	ordo_disease	CMT2 due to DGAT2 mutation	http://purl.obolibrary.org/obo/MONDO_0044625		ORPHA:487814
MONDO:0044624	pediatric collagenous gastritis	biolink:Disease	mondo	Orphanet:487809	ordo_disease	childhood-onset collagenous gastritis	http://purl.obolibrary.org/obo/MONDO_0044624		ORPHA:487809
MONDO:0044627	acute macular neuroretinopathy	biolink:Disease	mondo	Orphanet:488239	ordo_disease	AMNR	http://purl.obolibrary.org/obo/MONDO_0044627		ORPHA:488239
MONDO:0020699	biotin metabolic disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0020699	A deficiency in biotin through either inherited or acquired causes.	
MONDO:0044626	female infertility due to oocyte meiotic arrest	biolink:Disease	mondo	Orphanet:488191	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0044626		ORPHA:488191
MONDO:0017057	hereditary thrombocytopenia with normal platelets	biolink:Disease	mondo	Orphanet:268322|UMLS:CN227073|ICD10:D69.4	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017057		UMLS:CN227073|ORPHA:268322
MONDO:0032654	hyper-IgE recurrent infection syndrome 3, autosomal recessive	biolink:Disease	mondo	OMIM:618282|DOID:0080595		HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE; HIES3	http://purl.obolibrary.org/obo/MONDO_0032654		DOID:0080595|http://identifiers.org/omim/618282
MONDO:0017058	autosomal recessive intermediate Charcot-Marie-Tooth disease	biolink:Disease	mondo	GARD:0012452|UMLS:CN202416|ICD10:G60.0|Orphanet:268337	gard_rare|ordo_group_of_disorders	intermediate Charcot-Marie-Tooth disease, autosomal recessive|RI-CMT|autosomal recessive intermediate Charcot-Marie-Tooth disease	http://purl.obolibrary.org/obo/MONDO_0017058	Autosomal recessive form of intermediate Charcot-Marie-Tooth disease.	UMLS:CN202416|ORPHA:268337
MONDO:0032655	visual impairment and progressive phthisis bulbi	biolink:Disease	mondo	OMIM:618283|DOID:0070356		VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI; VIPB	http://purl.obolibrary.org/obo/MONDO_0032655		DOID:0070356|http://identifiers.org/omim/618283
MONDO:0017059	neural tube closure defect	biolink:Disease	mondo	Orphanet:268357	ordo_group_of_disorders	neural tube closure disease|disorder of neural tube closure|disorder of neural tube closure	http://purl.obolibrary.org/obo/MONDO_0017059	A disease that has its basis in the disruption of neural tube closure.	ORPHA:268357
MONDO:0032653	cardiac-urogenital syndrome	biolink:Disease	mondo	OMIM:618280		CARDIAC-UROGENITAL SYNDROME; CUGS	http://purl.obolibrary.org/obo/MONDO_0032653		http://identifiers.org/omim/618280
MONDO:0017053	intermittent maple syrup urine disease	biolink:Disease	mondo	SCTID:405288003|Orphanet:268173|ICD10:E71.0	ordo_clinical_subtype	intermittent MSUD|intermittent BCKD deficiency|intermittent branched-chain 2-ketoacid dehydrogenase deficiency|intermittent branched-chain alpha-ketoacid dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0017053	Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated.	SNOMEDCT:405288003|UMLS:C0268569|ORPHA:268173
MONDO:0032650	neurodegeneration, childhood-onset, with cerebellar atrophy	biolink:Disease	mondo	OMIM:618276		NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY; CONDCA	http://purl.obolibrary.org/obo/MONDO_0032650		http://identifiers.org/omim/618276
MONDO:0017054	thiamine-responsive maple syrup urine disease	biolink:Disease	mondo	Orphanet:268184|ICD10:E71.0	ordo_clinical_subtype	thiamine-responsive MSUD|thiamine-responsive BCKD deficiency|thiamine-responsive branched-chain 2-ketoacid dehydrogenase deficiency|thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency	http://purl.obolibrary.org/obo/MONDO_0017054	Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD but that responds positively to treatment with thiamine.	ORPHA:268184
MONDO:0032651	fibrosis, neurodegeneration, and cerebral angiomatosis	biolink:Disease	mondo	OMIM:618278		FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS; FINCA	http://purl.obolibrary.org/obo/MONDO_0032651		http://identifiers.org/omim/618278
MONDO:0017055	mycophenolate mofetil embryopathy	biolink:Disease	mondo	ICD10:Q86.8|UMLS:C4509879|Orphanet:268249|SCTID:723406000	ordo_disease	MMF embryopathy	http://purl.obolibrary.org/obo/MONDO_0017055	Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation.	SNOMEDCT:723406000|ORPHA:268249|UMLS:C4509879
MONDO:0017056	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	biolink:Disease	mondo	Orphanet:268261|UMLS:CN202414|ICD10:Q93.5	ordo_clinical_subtype	monosomy 21q22.13q22.2|Del(21)(q22.13q22.2)|monosomy 21q22.13-q22.2|21q22.13-q22.2 microdeletion syndrome|21q22.13q22.2 microdeletion syndrome	http://purl.obolibrary.org/obo/MONDO_0017056		UMLS:CN202414|ORPHA:268261
MONDO:0020690	adult glioblastoma	biolink:Disease	mondo	NCIT:C9094		adult glioblastoma|adult glioblastoma multiforme|grade IV adult astrocytic tumor|glioblastoma|grade IV adult astrocytic neoplasm	http://purl.obolibrary.org/obo/MONDO_0020690		NCIT:C9094
MONDO:0017040	exposure-related interstitial lung disease	biolink:Disease	mondo	UMLS:CN202351|Orphanet:264984	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017040		ORPHA:264984|UMLS:CN202351
FOODON:03411047	grain or seed-producing plant	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03411047		
MONDO:0017041	osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome	biolink:Disease	mondo	UMLS:CN202358|Orphanet:2653|SCTID:722108000	ordo_malformation_syndrome	Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome	http://purl.obolibrary.org/obo/MONDO_0017041	Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance.	UMLS:CN202358|SNOMEDCT:722108000|ORPHA:2653
MONDO:0032658	macrocephaly, acquired, with impaired intellectual development	biolink:Disease	mondo	OMIM:618286		Macrocephaly, Acquired, With Mental Retardation|MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT; MACID	http://purl.obolibrary.org/obo/MONDO_0032658		http://identifiers.org/omim/618286
MONDO:0032659	mucocutaneous ulceration, chronic	biolink:Disease	mondo	OMIM:618287		MUCOCUTANEOUS ULCERATION, CHRONIC; CMCU	http://purl.obolibrary.org/obo/MONDO_0032659		http://identifiers.org/omim/618287
MONDO:0032656	microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum	biolink:Disease	mondo	OMIM:618284		MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM; MCIDDS	http://purl.obolibrary.org/obo/MONDO_0032656		http://identifiers.org/omim/618284
MONDO:0032657	developmental and epileptic encephalopathy, 69	biolink:Disease	mondo	OMIM:618285		epileptic encephalopathy, early infantile, 69|DEE69|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69; EIEE69	http://purl.obolibrary.org/obo/MONDO_0032657		http://identifiers.org/omim/618285
MONDO:0005079	polyp	biolink:Disease	mondo	ICD10:N84|SCTID:441456002|NCIT:C3340|EFO:0000662|MESH:D011127		polyp	http://purl.obolibrary.org/obo/MONDO_0005079	A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations.	SNOMEDCT:441456002|NCIT:C3340|MESH:D011127
MONDO:0020698	inborn error of biotin metabolism	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0020698		
MONDO:0044643	congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome	biolink:Disease	mondo	Orphanet:495875	ordo_malformation_syndrome	congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0044643		ORPHA:495875
MONDO:0005078	phyllodes tumor	biolink:Disease	mondo	NCIT:C2977|EFO:0000653|MESH:D003557		CSP|phyllodes neoplasm|phyllodes tumor|cystosarcoma phyllodes	http://purl.obolibrary.org/obo/MONDO_0005078	A benign, borderline, or malignant fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It may recur following resection. The recurrence rates are higher for borderline and malignant phyllodes tumors. In borderline and malignant phyllodes tumors metastases to distant anatomic sites can occur. The incidence of metastases is higher in malignant phyllodes tumors.	MESH:D003557|NCIT:C2977
MONDO:0020697	lung epithelial-myoepithelial carcinoma	biolink:Disease	mondo	NCIT:C45545		lung epithelial-myoepithelial carcinoma|lung epithelial-myoepithelial cancer	http://purl.obolibrary.org/obo/MONDO_0020697	A lung carcinoma arising within the bronchi or bronchial tubes. It is characterized by the presence of myoepithelial cells, spindle cells, clear cells, and duct-forming epithelial cells. Surgical resection may be curative.	NCIT:C45545
MONDO:0044642	c11orf73-related autosomal recessive hypomyelinating leukodystrophy	biolink:Disease	mondo	Orphanet:495844	ordo_disease	hypomyelinating leukodystrophy due to hikeshi deficiency|C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy	http://purl.obolibrary.org/obo/MONDO_0044642		ORPHA:495844
HGNC:10936	SLC18A3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10936		
MONDO:0020696	vitamin B12 deficiency	biolink:Disease	mondo	ICD9:266.2|NCIT:C131684|SCTID:190634004|UMLS:C0042847|HP:0100502|MESH:D014806		cobalamin deficiency|vitamin b12 deficiency|hypocobalaminemia	http://purl.obolibrary.org/obo/MONDO_0020696	A disease characterized by low serum levels of vitamin B12, either inherited or acquired.	MESH:D014806|UMLS:C0042847|NCIT:C131684|SNOMEDCT:190634004
MONDO:0044645	familial monosomy 7 syndrome	biolink:Disease	mondo	Orphanet:495930	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0044645		ORPHA:495930
HGNC:10933	SLC17A5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10933		
MONDO:0044644	congenital agenesis of the scrotum	biolink:Disease	mondo	Orphanet:495879	ordo_morphological_anomaly	congenital absence of the scrotum|congenital scrotal absence|congenital scrotal agenesis	http://purl.obolibrary.org/obo/MONDO_0044644		ORPHA:495879
MONDO:0020695	hypotonic cerebral palsy	biolink:Disease	mondo	SCTID:192958009|NCIT:C116906		hypotonic cerebral palsy	http://purl.obolibrary.org/obo/MONDO_0020695	A type of cerebral palsy characterized by decreased muscle tone.	SNOMEDCT:192958009|NCIT:C116906
ENVO:00003082	enriched soil	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_00003082	A portion of enriched soil is a portion of soil with elevated levels of some material entity.	
MONDO:0005075	thyroid gland papillary carcinoma	biolink:Disease	mondo	HP:0002895|NCIT:C4035|SCTID:255029007|EFO:0000641|ONCOTREE:THPA|UMLS:C0238463|DOID:3969|GARD:0012027		thyroid gland papillary carcinoma|papillary thyroid gland carcinoma|papillary thyroid carcinoma|thyroid papillary carcinoma|papillary carcinoma of thyroid gland|papillary carcinoma of the thyroid|papillary carcinoma of thyroid|papillary cancer of the thyroid gland|papillary thyroid cancer|papillary cancer of thyroid gland|thyroid gland papillary cancer|papillary cancer of the thyroid|papillary cancer of thyroid|papillary carcinoma of the thyroid gland	http://purl.obolibrary.org/obo/MONDO_0005075	A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. Radiation exposure is a risk factor and it is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei. The nuclei also display clearing or have a ground glass appearance.	NCIT:C4035|UMLS:C0238463|SNOMEDCT:255029007|DOID:3969
MONDO:0020694	salivary gland epithelial myoepithelial carcinoma	biolink:Disease	mondo	NCIT:C35701		salivary gland epithelial myoepithelial carcinoma	http://purl.obolibrary.org/obo/MONDO_0020694	A carcinoma that arises from the salivary glands, most often the parotid gland. It presents as a slow growing and painless mass. It is characterized by the presence of duct-like structures lined by two layers of cells, an inner layer composed of epithelial-type cells and an outer layer composed of clear, myoepithelial-type cells.	NCIT:C35701
HGNC:10939	SLC1A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10939		
MONDO:0005074	papillary cystadenocarcinoma	biolink:Disease	mondo	UMLS:C0206700|ICDO:8450/3|NCIT:C3777|MESH:D018283|EFO:0000639|DOID:3110|GARD:0010162	gard_rare	cystadenocarcinoma, papillary, malignant|papillary cystadenocarcinoma|papillary cystadenocarcinoma, NOS (morphologic abnormality)|papillary cystadenocarcinoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0005074	A malignant cystic serous or mucinous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present.	NCIT:C3777|DOID:3110|UMLS:C0206700|MESH:D018283
MONDO:0020693	glycogen storage disease due to liver phosphorylase kinase deficiency	biolink:Disease	mondo	ICD10:E74.0|Orphanet:264580	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0020693	A benign form of phosphorylase kinase deficiency caused by variants in PHKA2 or PHKG2 and characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.	ORPHA:264580
MONDO:0005077	pertussis	biolink:Disease	mondo	SCTID:27836007|ICD9:033.0|NCIT:C85231|DOID:1116|ICD10:A37.0|MedDRA:10047974|ICD10:A37.1|GARD:0008692|ICD9:033.9|ICD9:033|ICD10:A37.9|MESH:D014917|Orphanet:1489|ICD10:A37.8|COHD:257778|KEGG:05133|EFO:0000650|MedDRA:10034738|UMLS:C0043167	ordo_disease|gard_rare	Bordetella pertussis disease or disorder|Bordetella infection|infection due to Bordetella pertussis|whooping cough|pertussis|Bordetella pertussis infectious disease|Bordetella pertussis caused disease or disorder|Bordetella pertussis infection|WC - whooping cough	http://purl.obolibrary.org/obo/MONDO_0005077	A contagious bacterial respiratory infection caused by Bordetella pertussis. It is characterized by severe and uncontrollable cough, resulting in a whooping sound during breathing following the cough.	NCIT:C85231|SNOMEDCT:27836007|UMLS:C0043167|ORPHA:1489|MESH:D014917|MEDDRA:10034738|MEDDRA:10047974|DOID:1116
MONDO:0020692	spondylocostal dysostosis 1, autosomal recessive	biolink:Disease	mondo	OMIM:277300		vertebral anomalies|SCDO1|spondylocostal dysostosis 1, autosomal recessive; SCDO1|spondylothoracic dysplasia|spondylothoracic dysostosis	http://purl.obolibrary.org/obo/MONDO_0020692		http://identifiers.org/omim/277300
MONDO:0044641	9q33.3q34.11 microdeletion syndrome	biolink:Disease	mondo	Orphanet:495818	ordo_malformation_syndrome	monosomy 9q33.3-q34.11|9q33.3-q34.11 microdeletion syndrome|Del(9)(q33.3q34.11)|monosomy 9q33.3q34.11|deletion 9q33.3q34.11	http://purl.obolibrary.org/obo/MONDO_0044641		ORPHA:495818
MONDO:0044640	charcot-marie-tooth disease type 2T	biolink:Disease	mondo	UMLS:CN237675|Orphanet:495274	ordo_disease	CMT2T|AR-CMT2T|autosomal recessive axonal Charcot-Marie-Tooth disease type 2T	http://purl.obolibrary.org/obo/MONDO_0044640		ORPHA:495274|UMLS:CN237675
HGNC:10938	SLC19A2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10938		
MONDO:0005076	periodontitis	biolink:Disease	mondo	UMLS:C0600298|DOID:9893|ICD9:523.5|ICD10:K05.3|SCTID:41565005|NCIT:C34918|EFO:0000649|DOID:824|UMLS:C0031099|MESH:D010518|COHD:141608|ICD10:K05.4		chronic pericementitis|inflammation of periodontium|periodontosis|periodontium inflammation	http://purl.obolibrary.org/obo/MONDO_0005076	An acute or chronic inflammatory process that affects the tissues that surround and support the teeth.	DOID:9893|UMLS:C0031099|DOID:824|NCIT:C34918|UMLS:C0600298|MESH:D010518|SNOMEDCT:41565005
MONDO:0020691		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0020691		
MONDO:0005071	nervous system disorder	biolink:Disease	mondo	SCTID:118940003|ICD10:G98|ICD10:G00-G99|ICD10:G98.8|NCIT:C26835|MESH:D009422|Wikipedia:Nervous_system_disease|ICD9:349.89|ICD9:349.9|DOID:863|EFO:0000618|UMLS:C0027765|ICD10:G00.G99		disorder of nervous system|nervous system disorder|nervous system disease or disorder|neurological disorder|disorder of nervous system|disease of nervous system|neurologic disease|disease or disorder of nervous system|nervous system disease|neurologic disorder|neurological disease	http://purl.obolibrary.org/obo/MONDO_0005071	A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves.	NCIT:C26835|SNOMEDCT:118940003|UMLS:C0027765|MESH:D009422|DOID:863
MONDO:0005070	neoplasm (disease)	biolink:Disease	mondo	UMLS:CN236628|ICD9:239.9|ICD10:C00.D48|COHD:438112|SCTID:55342001|ICD9:140-239.99|ICD9:239.8|MESH:D009369|NCIT:C3262|HP:0002664|ONCOTREE:OTHER|EFO:0000616|DOID:14566		neoplasm|cell process disease|neoplastic disease|disease of cellular proliferation|neoplastic growth|tumor|tumor disease|neoplasia|other neoplasm	http://purl.obolibrary.org/obo/MONDO_0005070	A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias.	NCIT:C3262|MESH:D009369|SNOMEDCT:55342001|DOID:14566|UMLS:CN236628
MONDO:0005073	melanocytic nevus	biolink:Disease	mondo	EFO:0000625|SCTID:400096001|COHD:4271013|MESH:D009506|Wikipedia:Nevus|NCIT:C7570		melanocytic Nevus|mole of skin|nevus|melanotic Nevus|mole	http://purl.obolibrary.org/obo/MONDO_0005073	A neoplasm composed of melanocytes that usually appears as a dark spot on the skin.	SNOMEDCT:400096001|MESH:D009506|NCIT:C7570
MONDO:0005072	neuroblastoma	biolink:Disease	mondo	EFO:0000621|DOID:769|NIFSTD:birnlex_12631|MESH:D009447|ICDO:9500/3|MedDRA:10029260|NCIT:C3270|Orphanet:635|GARD:0007185|UMLS:CN205405|ONCOTREE:NBL|ICD10:C74.9|UMLS:C0027819|SCTID:432328008	ordo_disease|gard_rare	neural Crest tumor, malignant|neuroblastoma|neuroblastoma, malignant|NB|neuroblastoma (Schwannian Stroma-poor)	http://purl.obolibrary.org/obo/MONDO_0005072	Neuroblastoma (NB) is the most common solid, extracranial childhood tumor. It is an aggressive pediatric cancer that originates from neural crest tissues of the sympathetic nervous system.	NCIT:C3270|SNOMEDCT:432328008|UMLS:C0027819|MESH:D009447|MESH:C536408|DOID:769|ORPHA:635|MEDDRA:10029260|UMLS:C2931189|UMLS:CN205405
MONDO:0044636	rare hyperkinetic movement disorder	biolink:Disease	mondo	Orphanet:494457	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0044636		ORPHA:494457
HGNC:10942	SLC1A4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10942		
MONDO:0044635	diaph1-related sensorineural hearing loss-thrombocytopenia syndrome	biolink:Disease	mondo	Orphanet:494444	ordo_disease	DIAPH1-related sensorineural deafness-thrombocytopenia syndrome	http://purl.obolibrary.org/obo/MONDO_0044635		ORPHA:494444
MONDO:0044638	hypopharynx squamous cell carcinoma	biolink:Disease	mondo	NCIT:C4043|ONCOTREE:HPHSC|Orphanet:494547|EFO:1001960	ordo_disease	hypopharyngeal squamous cell carcinoma|squamous cell carcinoma of the hypopharynx|hypopharyngeal throat squamous cell cancer|squamous cell carcinoma of hypopharynx|hypopharyngeal epidermoid carcinoma|epidermoid carcinoma of the hypopharynx|epidermoid carcinoma of hypopharynx	http://purl.obolibrary.org/obo/MONDO_0044638	A squamous cell carcinoma that involves the hypopharynx.	NCIT:C4043|ORPHA:494547
MONDO:0020689	AIDS dementia complex	biolink:Disease	mondo	EFO:0002608|ICD9:294.8|SCTID:421529006|UMLS:C0001849|NCIT:C2864|MESH:D015526|GARD:0008250	gard_rare	HIV-1-Associated Cognitive Motor Complex|Dementia associated with AIDS|DEMENTIA COMPLEX AIDS RELAT|acquired immune deficiency syndrome-related dementia|AIDS related Dementia Complex|AIDS related cognitive impairment|HIV-associated dementia|ADC - Acquired immune deficiency syndrome dementia complex|Dementias, HIV|AIDS with dementia (disorder)|acquired immune deficiency syndrome dementia complex|AIDS dementia|HIV ASSOC COGNITIVE MOTOR COMPLEX|Acquired immune deficiency syndrome-related dementia|HIV associated cognitive and motor complex|HIV Dementia|Dementia Complex, AIDS|AIDS-related Dementia Complex|Dementia Complex, Acquired Immune Deficiency Syndrome|DEMENTIA COMPLEX ACQUIRED IMMUNE DEFIC SYNDROME|HIV Dementias|Encephalopathies, HIV|HIV Associated Cognitive Motor Complex|Dementia Complex, AIDS-related|AIDS Dementia|HIV-1 Cognitive and Motor Complex|AIDS RELAT DEMENTIA COMPLEX|HIV 1 Associated Cognitive Motor Complex|HIV Encephalopathy|AIDS - Acquired immune deficiency syndrome dementia complex|Complex, AIDS-related Dementia|Encephalopathy, AIDS|Encephalopathy, HIV|Acquired-Immune Deficiency Syndrome Dementia Complex|HIV-Associated Cognitive Motor Complex|Dementia Complex, AIDS related|Complex, AIDS Dementia|AIDS Encephalopathy|HIV Encephalopathies|HIV 1 Cognitive and Motor Complex|AIDS dementia complex|Encephalopathies, AIDS|ADC|Acquired immune deficiency syndrome dementia complex|AIDS Dementia Complex|Dementia, HIV|Dementia associated with acquired immunodeficiency syndrome|HIV encephalitis|AIDS Encephalopathies	http://purl.obolibrary.org/obo/MONDO_0020689	A neurologic condition associated with the ACQUIRED IMMUNODEFICIENCY SYNDROME and characterized by impaired concentration and memory, slowness of hand movements, ATAXIA, incontinence, apathy, and gait difficulties associated with HIV-1 viral infection of the central nervous system. Pathologic examination of the brain reveals white matter rarefaction, perivascular infiltrates of lymphocytes, foamy macrophages, and multinucleated giant cells. (From Adams et al., Principles of Neurology, 6th ed, pp760-1; N Engl J Med, 1995 Apr 6;332(14):934-40)	MESH:D015526|NCIT:C2864|UMLS:C0001849|SNOMEDCT:421529006
HGNC:10940	SLC1A2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10940		
MONDO:0020688	spinal cord ischemia	biolink:Disease	mondo	MESH:D020760		experimental spinal cord ischemia|spinal cord Ischemias|ischemic myelopathies|cord Ischemias, spinal|cord ischemia, spinal|ischemia, spinal cord|myelopathy, ischemic|myelopathies, ischemic|spinal cord ischemia, experimental|ischemias, spinal cord|ischemic myelopathy	http://purl.obolibrary.org/obo/MONDO_0020688	Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with arteriosclerosis, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to infarction of spinal cord tissue.	MESH:D020760
HGNC:10941	SLC1A3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/10941		
MONDO:0044637	infantile-onset generalized dyskinesia with orofacial involvement	biolink:Disease	mondo	Orphanet:494526	ordo_disease	infantile-onset orofacial-trunk-limbs dyskinesia	http://purl.obolibrary.org/obo/MONDO_0044637		ORPHA:494526
MONDO:0032665	intellectual developmental disorder, autosomal recessive 68	biolink:Disease	mondo	OMIM:618302		INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68; MRT68|Mental Retardation, Autosomal Recessive 68	http://purl.obolibrary.org/obo/MONDO_0032665		http://identifiers.org/omim/618302
FOODON:03411041	chemical food component	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03411041	Any chemical or chemical mixture that exists in a food material or was added to a food material.	
MONDO:0017046	neuroepithelioma	biolink:Disease	mondo	ICD10:C71.9|Orphanet:2677|GARD:0003963	ordo_disease|gard_rare		http://purl.obolibrary.org/obo/MONDO_0017046	Peripheral neuroepithelioma is a rare noncentral nervous system tumor with evidence of primitive neuroectodermal differentiation.	MESH:D018241|ORPHA:2677|UMLS:C0027828
MONDO:0032666	epidermodysplasia verruciformis, susceptibility to, 4	biolink:Disease	mondo	OMIM:618307		EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4; EV4	http://purl.obolibrary.org/obo/MONDO_0032666		http://identifiers.org/omim/618307
MONDO:0017047	infantile axonal neuropathy	biolink:Disease	mondo	ICD10:G60.8|Orphanet:2679|GARD:0002996	ordo_disease|gard_rare		http://purl.obolibrary.org/obo/MONDO_0017047		ORPHA:2679
MONDO:0030004	autism, susceptibility to, 20	biolink:Disease	mondo	OMIM:618830		AUTS20|AUTISM, SUSCEPTIBILITY TO, 20; AUTS20|autism, susceptibility to, 20	http://purl.obolibrary.org/obo/MONDO_0030004		http://identifiers.org/omim/618830
MONDO:0017048	pseudomyxoma peritonei	biolink:Disease	mondo	MESH:D011553|GARD:0007488|EFO:0007456|SCTID:307601000|UMLS:C0033822|ICD10:C78.6|ICDO:8480/6|DOID:3559|MedDRA:10037138|GARD:0002448|NCIT:C3345|Orphanet:26790	gard_rare|ordo_disease	pseudomyxoma peritonei (morphologic abnormality)|well differentiated peritoneal mucinous adenocarcinoma|peritoneal cavity pseudomyxoma peritonei|Myxoma peritonei|syndrome of pseudomyxoma peritonei|pseudomyxoma peritonei|Adenomucinosis|PMP|mucinous ascites|gelatinous ascites	http://purl.obolibrary.org/obo/MONDO_0017048	Pseudomyxoma peritonei is characterized by disseminated intra-peritoneal mucinous tumors and mucinous ascites in the abdomen and pelvis.	DOID:3559|MESH:D011553|ORPHA:26790|NCIT:C3345|MEDDRA:10037138|UMLS:C0033822|SNOMEDCT:307601000
MONDO:0032663	developmental and epileptic encephalopathy, 70	biolink:Disease	mondo	OMIM:618298		DEE70|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70; EIEE70|epileptic encephalopathy, early infantile, 70	http://purl.obolibrary.org/obo/MONDO_0032663		http://identifiers.org/omim/618298
MONDO:0017049	hypomyelination neuropathy-arthrogryposis syndrome	biolink:Disease	mondo	UMLS:CN202399|Orphanet:2680	ordo_malformation_syndrome	Boylan-dew syndrome	http://purl.obolibrary.org/obo/MONDO_0017049	10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons.	UMLS:CN202399|ORPHA:2680
MONDO:0032664	ciliary dyskinesia, primary, 40	biolink:Disease	mondo	OMIM:618300		CILIARY DYSKINESIA, PRIMARY, 40; CILD40|Ciliary Dyskinesia, Primary, 40, With or Without Situs Inversus	http://purl.obolibrary.org/obo/MONDO_0032664		http://identifiers.org/omim/618300
MONDO:0017042	thanatophoric dysplasia	biolink:Disease	mondo	ICD9:259.4|SCTID:29352008|NCIT:C85187|MESH:D013796|GARD:0000085|UMLS:C0039743|ICD10:Q77.1|DOID:13481|Orphanet:2655|MedDRA:10049808	gard_rare|ordo_disease	thanatophoric dwarfism|Td|dwarfism thanatophoric	http://purl.obolibrary.org/obo/MONDO_0017042	Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape.	NCIT:C85187|SNOMEDCT:29352008|MEDDRA:10049808|ORPHA:2655|UMLS:C0039743|MESH:D013796|DOID:13481
MONDO:0032661	neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	biolink:Disease	mondo	OMIM:618292		NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA; NEDIDHA	http://purl.obolibrary.org/obo/MONDO_0032661		http://identifiers.org/omim/618292
MONDO:0017043	congenital mesoblastic nephroma	biolink:Disease	mondo	ICDO:8960/1|GARD:0001493|NCIT:C6569|ICD10:D41.0|UMLS:C1332965|Orphanet:2665|MedDRA:10070665|DOID:4773	gard_rare|ordo_disease	stromal nephroma, malignant|CMn|mesoblastic nephroma|congenital mesoblastic nephroma	http://purl.obolibrary.org/obo/MONDO_0017043	A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis.	NCIT:C6569|MEDDRA:10070665|ORPHA:2665|UMLS:C1332965|DOID:4773
MONDO:0032662	intellectual developmental disorder, autosomal recessive 67	biolink:Disease	mondo	OMIM:618295		Mental Retardation, Autosomal Recessive 67|INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67; MRT67	http://purl.obolibrary.org/obo/MONDO_0032662		http://identifiers.org/omim/618295
MONDO:0017044	adult familial nephronophthisis-spastic quadriparesia syndrome	biolink:Disease	mondo	Orphanet:2666|UMLS:CN202376	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017044	This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients.	UMLS:CN202376|ORPHA:2666
MONDO:0017045	neuroectodermal-endocrine syndrome	biolink:Disease	mondo	UMLS:CN202391|GARD:0003959|SCTID:724090001|Orphanet:2676|ICD10:E31.8	ordo_malformation_syndrome|gard_rare	neuroectodermal endocrine syndrome|Oerter-Friedman-Anderson syndrome	http://purl.obolibrary.org/obo/MONDO_0017045	Neuroectodermal-endocrine syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar.	SNOMEDCT:724090001|UMLS:CN202391|ORPHA:2676
MONDO:0032660	spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant	biolink:Disease	mondo	OMIM:618291|DOID:0070350		SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT; SMALED2B	http://purl.obolibrary.org/obo/MONDO_0032660		DOID:0070350|http://identifiers.org/omim/618291
MONDO:0032706	spinocerebellar ataxia, autosomal recessive 27	biolink:Disease	mondo	DOID:0111616|OMIM:618369		SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27; SCAR27	http://purl.obolibrary.org/obo/MONDO_0032706		DOID:0111616|http://identifiers.org/omim/618369
MONDO:0032707	turnpenny-fry syndrome	biolink:Disease	mondo	OMIM:618371		TURNPENNY-FRY SYNDROME; TPFS|Neurocardioskeletal Syndrome	http://purl.obolibrary.org/obo/MONDO_0032707		http://identifiers.org/omim/618371
MONDO:0007748	hypercalciuria, absorptive, 2	biolink:Disease	mondo	ICD9:V18.19|MESH:C562790|SCTID:237886009|OMIM:143870		hypercalciuria, absorptive, type 2|HCA2|hypercalciuria, familial idiopathic|hypercalciuria, absorptive, 2; HCA2|hypercalciuria, absorptive, 2	http://purl.obolibrary.org/obo/MONDO_0007748		MESH:C562790|http://identifiers.org/omim/143870|SNOMEDCT:237886009
MONDO:0007749	autosomal recessive infantile hypercalcemia	biolink:Disease	mondo	UMLS:CN203398|UMLS:C4329374|Orphanet:300547|SCTID:34225008|ICD10:E83.5|NCIT:C129734	prototype_pattern|ordo_disease	hypercalcemia, infantile|hypercalcemia, infantile, autosomal recessive|hypercalcemia, idiopathic, of infancy|autosomal recessive hypercalcemia, infantile|idiopathic infantile hypercalcemia|familial infantile hypercalcemia with suppressed intact parathyroid hormone	http://purl.obolibrary.org/obo/MONDO_0007749	A condition caused by autosomal recessive loss-of-function mutation(s) in the CYP24A1 or SLC34A1 gene, encoding mitochondrial 1,25-dihydroxyvitamin D(3) 24-hydroxylase, and sodium-dependent phosphate transport protein 2A, respectively. This condition is characterized by vomiting, polyuria, dehydration, and failure to thrive, accompanied by hypercalcemia, suppressed parathyroid hormone, and nephrocalcinosis.	NCIT:C129734|ORPHA:300547|UMLS:CN203398|SNOMEDCT:34225008|UMLS:C4329374
MONDO:0032705	neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination	biolink:Disease	mondo	OMIM:618367		NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION; NEDMEHM	http://purl.obolibrary.org/obo/MONDO_0032705		http://identifiers.org/omim/618367
MONDO:0007746	orthostatic hypotensive disorder, Streeten type	biolink:Disease	mondo	MESH:C564174|UMLS:C1840438|OMIM:143850		orthostatic hypotensive disorder|hyperbradykininism|orthostatic hypotensive disorder, Streeten type|OHDS	http://purl.obolibrary.org/obo/MONDO_0007746		MESH:C564174|UMLS:C1840438|http://identifiers.org/omim/143850
MONDO:0032702	Coffin-Siris syndrome 8	biolink:Disease	mondo	OMIM:618362		COFFIN-SIRIS SYNDROME 8; CSS8	http://purl.obolibrary.org/obo/MONDO_0032702		http://identifiers.org/omim/618362
MONDO:0007747	isolated hyperchlorhidrosis	biolink:Disease	mondo	ICD9:276.9|OMIM:143860|SCTID:709413001|Orphanet:542657|DOID:0111371	ordo_disease	hyperchlorhidrosis, isolated	http://purl.obolibrary.org/obo/MONDO_0007747		DOID:0111371|ORPHA:542657|SNOMEDCT:709413001|http://identifiers.org/omim/143860
MONDO:0032703	short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	biolink:Disease	mondo	OMIM:618363		SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS; SSASKS	http://purl.obolibrary.org/obo/MONDO_0032703		http://identifiers.org/omim/618363
MONDO:0007744	cholesterol-ester transfer protein deficiency	biolink:Disease	mondo	ICD10:E78.4|DOID:0111368|Orphanet:79506|SCTID:15771000119109|UMLS:CN205999|OMIM:143470|UMLS:C3875011	ordo_disease	HALP1|hyperalphalipoproteinemia 1|high density lipoprotein cholesterol level quantitative trait locus 10|hyperalphalipoproteinemia type 1|Hdlcq10|cholesterol ester transfer Protein deficiency|CETP deficiency|hyperalphalipoproteinemia 1; HALP1|familial hyperalphalipoproteinemia|CEPT deficiency	http://purl.obolibrary.org/obo/MONDO_0007744		SNOMEDCT:15771000119109|ORPHA:79506|UMLS:CN205999|UMLS:C3875011|http://identifiers.org/omim/143470|DOID:0111368
MONDO:0007745	Gilbert syndrome	biolink:Disease	mondo	DOID:2739|ICD10:E80.4|OMIM:143500|GARD:0006507|SCTID:27503000|MESH:D005878|EFO:0005556|NCIT:C84729|COHD:4099740		Gilbert's disease|Gilbert's syndrome|hyperbilirubinemia, Arias type|Gilbert syndrome|constitutional hyperbilirubinemia|hereditary nonhemolytic jaundice|hyperbilirubinemia 1|Gilbert-Meulengracht syndrome|Gilbert disease|hyperbilirubinemia, Gilbert type	http://purl.obolibrary.org/obo/MONDO_0007745	An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice.	DOID:2739|MESH:D005878|NCIT:C84729|SNOMEDCT:27503000|http://identifiers.org/omim/143500
MONDO:0007742	5-hydroxytryptamine oxygenase regulator	biolink:Disease	mondo	OMIM:143460		5-hydroxytryptamine oxygenase regulator|HTOR|5-HYDROXYTRYPTAMINE oxygenase regulator; HTOR	http://purl.obolibrary.org/obo/MONDO_0007742		http://identifiers.org/omim/143460
MONDO:0020720	X-linked hypophosphatemic rickets (recessive or dominant)	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0020720		
MONDO:0007743	attention deficit-hyperactivity disorder	biolink:Disease	mondo	OMIM:143465|NCIT:C97160		ADHD|attention deficit-hyperactivity disorder|attention deficit hyperactivity disorder|attention deficit/hyperactivity disorder|hyperactivity of childhood|attention deficit hyperactivity disorder|attention deficit-hyperactivity disorder; ADHD	http://purl.obolibrary.org/obo/MONDO_0007743	A disorder characterized by a marked pattern of inattention and/or hyperactivity-impulsivity that is inconsistent with developmental level and clearly interferes with functioning in at least two settings (e.g. at home and at school). When present, the symptoms of hyperactivity are most often present before the age of 7 years. There are three recognized presentations or subtypes from most to least common: combined type, inattentive/distractible type, hyperactive/impulsive type.	NCIT:C97160|http://identifiers.org/omim/143465
MONDO:0007740	Wagner disease	biolink:Disease	mondo	MESH:C536075|OMIM:143200|UMLS:C1840452|ICD10:H35.5|Orphanet:898|SCTID:232064001|GARD:0007871|MedDRA:10063383	ordo_disease	Wagner vitreoretinopathy|dominant hyaloideoretinal dystrophy of Wagner|ERVR|hyaloideoretinal Degeneration of Wagner|erosive vitreoretinopathy|Wagner disease (formerly)|Wagner syndrome type 1|Wagner vitreoretinal Degeneration|Wagner syndrome 1|VCAN-related vitreoretinopathy|WGN1|Wagner vitreoretinopathy; WGVRP|vitreoretinal degeneration, Wagner type|Wagner syndrome|WGVRP	http://purl.obolibrary.org/obo/MONDO_0007740	Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment.	UMLS:C1840452|http://identifiers.org/omim/143200|MESH:C536075|MEDDRA:10063383|SNOMEDCT:232064001|UMLS:C0339540|ORPHA:898
MONDO:0007741	congenital hydronephrosis	biolink:Disease	mondo	SCTID:16297002|NCIT:C102979|ICD10:Q62.0|UMLS:C0266316|Orphanet:2190|ICD9:753.29|MedDRA:10050975|COHD:4037874	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0007741	Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy.	NCIT:C102979|MEDDRA:10050975|SNOMEDCT:16297002|ORPHA:2190|UMLS:C0266316
NCBITaxon:44542	gambiae species complex	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_44542		
MONDO:0019739	atypical hemolytic-uremic syndrome with anti-factor H antibodies	biolink:Disease	mondo	Orphanet:93581|UMLS:CN206652|ICD10:D58.8	ordo_etiological_subtype	D-HUS with anti-factor H antibodies|hemolytic-uremic syndrome without diarrhea with anti-factor H antibodies|aHUS with anti-factor H antibodies|atypical HUS with anti-factor H antibodies	http://purl.obolibrary.org/obo/MONDO_0019739		UMLS:CN206652|ORPHA:93581
HP:0002014	Diarrhea	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:62315008|MSH:D003967|UMLS:C0011991|SNOMEDCT_US:267060006		Watery stool|Diarrhoea|Diarrhea	http://purl.obolibrary.org/obo/HP_0002014	Abnormally increased frequency of loose or watery bowel movements.	
MONDO:0020717	autosomal dominant woolly hair	biolink:Disease	mondo	DOID:0111573|OMIM:194300		ADWH	http://purl.obolibrary.org/obo/MONDO_0020717		http://identifiers.org/omim/194300|DOID:0111573
MONDO:0019738	atypical hemolytic-uremic syndrome with H factor anomaly	biolink:Disease	mondo	ICD10:D58.8|UMLS:CN206650|Orphanet:93579	ordo_etiological_subtype	D-HUS with H factor anomaly|hemolytic-uremic syndrome without diarrhea with H factor anomaly|atypical HUS with H factor anomaly|aHUS with H factor anomaly	http://purl.obolibrary.org/obo/MONDO_0019738		UMLS:CN206650|ORPHA:93579
HP:0002015	Dysphagia	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:40739000|SNOMEDCT_US:288939007|MEDDRA:10013950|UMLS:C0011168|MSH:D003680	hposlim_core	Swallowing difficulty|Deglutition disorder|Swallowing difficulties|Difficulty swallowing|Poor swallowing	http://purl.obolibrary.org/obo/HP_0002015	Difficulty in swallowing.	
MONDO:0020716	familial thyroid dyshormonogenesis 1	biolink:Disease	mondo	OMIM:274400		thyroid dyshormonogenesis 1; TDH1|thyroid hormonogenesis, genetic defect in, 1|thyroid dyshormonogenesis 1|hypothyroidism, congenital, due to dyshormonogenesis, 1|iodine accumulation, transport, or trapping defect|thyroid dyshormonogenesis type 1|TDH1	http://purl.obolibrary.org/obo/MONDO_0020716		http://identifiers.org/omim/274400
HP:0002012	Abnormality of the abdominal organs	biolink:PhenotypicFeature	mondo	UMLS:C4021764		Abnormality of the abdominal organs|Gastrointestinal tract defects	http://purl.obolibrary.org/obo/HP_0002012	An abnormality of the viscera of the abdomen.	
MONDO:0020715	Multiple system atrophy 1, susceptibility to	biolink:Disease	mondo			MSA1|multiple system atrophy 1, susceptibility to; MSA1|Msa1, susceptibility to|multiple system atrophy 1, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0020715		
HP:0002013	Vomiting	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:422400008|MEDDRA:10047700|UMLS:C0042963|SNOMEDCT_US:300359004|SNOMEDCT_US:249497008|MSH:D014839	hposlim_core	Throwing up|Emesis|Vomiting	http://purl.obolibrary.org/obo/HP_0002013	Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.	
MONDO:0020714	mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	biolink:Disease	mondo	OMIM:251900			http://purl.obolibrary.org/obo/MONDO_0020714		http://identifiers.org/omim/251900
MONDO:0019735	polymyalgia rheumatica	biolink:Disease	mondo	MedDRA:10068240|NCIT:C85018|DOID:853|ICD10:M35.3|UMLS:C1527406|Orphanet:93569|SCTID:65323003|ICD9:725|MESH:D011111|UMLS:C0032533|GARD:0004704|COHD:255348	ordo_disease	rhizomelic pseudopolyarthritis|polymyalgia rheumatica	http://purl.obolibrary.org/obo/MONDO_0019735	A syndrome characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. There is no muscle atrophy and muscle biopsies do not reveal pathologic changes. Additional signs and symptoms include low grade fever, fatigue and depression.	NCIT:C85018|MEDDRA:10068240|SNOMEDCT:65323003|ORPHA:93569|UMLS:C0032533|UMLS:C1527406|DOID:853|MESH:D011111
MONDO:0020713	pulmonary venoocclusive disease 1	biolink:Disease	mondo	OMIM:265450		pulmonary venoocclusive disease 1, autosomal dominant|pulmonary venoocclusive disease 1, autosomal dominant; PVOD1|PVOD1	http://purl.obolibrary.org/obo/MONDO_0020713		http://identifiers.org/omim/265450
HP:0002019	Constipation	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:225595004|SNOMEDCT_US:14760008|MSH:D003248|UMLS:C0009806|UMLS:C0237326		Constipation|Costiveness|Dyschezia	http://purl.obolibrary.org/obo/HP_0002019	Infrequent or difficult evacuation of feces.	
MONDO:0019734	juvenile polymyositis	biolink:Disease	mondo	SCTID:738526005|EFO:1001988|UMLS:C3826988|NCIT:C114358|Orphanet:93568|ICD10:M33.2|GARD:0012742	ordo_disease|gard_rare	JPM|juvenile PM	http://purl.obolibrary.org/obo/MONDO_0019734	An idiopathic inflammatory myopathy of childhood resulting in muscle weakness.	NCIT:C114358|UMLS:C3826988|ORPHA:93568|SNOMEDCT:738526005
MONDO:0020712	46,XY sex reversal 1	biolink:Disease	mondo	OMIM:400044|DOID:0111778		46,XY sex reversal 1|46,XY sex reversal, SRY-related|46,XY sex reversal type 1|46,XY true hermaphroditism, SRY-related|46,XY sex reversal 1; SRXY1|SRXY1|46,XY gonadal dysgenesis, complete, SRY-related	http://purl.obolibrary.org/obo/MONDO_0020712		http://identifiers.org/omim/400044|DOID:0111778
MONDO:0019737	thrombotic microangiopathy	biolink:Disease	mondo	GARD:0012465|Orphanet:93573|SCTID:126729006|MedDRA:10043645|MESH:D057049|ICD10:M31.1|UMLS:C2717961|ICD9:446.6|NCIT:C62605|COHD:313800	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019737	The syndromes of microangiopathic hemolytic anemia, thrombocytopenia, and variable signs of organ impairment, due to platelet aggregation in the microcirculation.	NCIT:C62605|SNOMEDCT:126729006|UMLS:C2717961|MESH:D057049|MEDDRA:10043645|ORPHA:93573
MONDO:0020711	selective peripheral resistance to thyroid hormone	biolink:Disease	mondo			PerRTH	http://purl.obolibrary.org/obo/MONDO_0020711	A thyroid hormone resistance syndrome characterized by resistance in peripheral tissues but not in the pituitary.	
MONDO:0019736	dense deposit disease	biolink:Disease	mondo	GARD:0008555|Orphanet:93571|UMLS:C0268743|ICD10:N04.6|NCIT:C123039|SCTID:722760002	ordo_histopathological_subtype	Mesangiocapillary glomerulonephritis type 2|glomerulonephritis membranoproliferative type 2|membranoproliferative glomerulonephritis type 2|MPGN 2|membranoproliferative glomerulonephritis type II	http://purl.obolibrary.org/obo/MONDO_0019736	Dense deposit disease, a histological subtype of MPGN is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen.	NCIT:C123039|ORPHA:93571|MESH:D015432|UMLS:C0268743|SNOMEDCT:722760002
HP:0002017	Nausea and vomiting	biolink:PhenotypicFeature	mondo	UMLS:C0027498|SNOMEDCT_US:16932000		Nausea and vomiting	http://purl.obolibrary.org/obo/HP_0002017	Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.	
MONDO:0020710	amnionitis	biolink:Disease	mondo	NCIT:C50459|UMLS:C0002631|SCTID:10573002|ICD9:658.40		Infection of amniotic cavity|Amnionitides|amnionitis|Amniotic cavity infection|infection of amniotic cavity|amniotic cavity infection|Amnionitis|amnionitis	http://purl.obolibrary.org/obo/MONDO_0020710	Inflammation of the amnion.	UMLS:C0002631|SNOMEDCT:10573002|NCIT:C50459
MONDO:0019731	AApoAI amyloidosis	biolink:Disease	mondo	Orphanet:93560|ICD10:E85.0|UMLS:CN206638	ordo_clinical_subtype	hereditary renal amyloidosis due to apolipoprotein A-I variant|familial amyloid nephropathy due to apolipoprotein A-I variant|familial renal amyloidosis due to apolipoprotein A-I variant|hereditary amyloid nephropathy due to apolipoprotein A-I variant|apolipoprotein A-I amyloidosis	http://purl.obolibrary.org/obo/MONDO_0019731		UMLS:CN206638|ORPHA:93560
HGNC:2799	GRHL2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2799		
MONDO:0019730	light chain deposition disease	biolink:Disease	mondo	ICD10:D89.8|NCIT:C7727|SCTID:373604002|GARD:0006906|Orphanet:93558|UMLS:C0238239	gard_rare|ordo_clinical_subtype	Bence Jones myeloma|Light chain disease|Light-chain deposition disease|Light chain gammopathy|LCDD	http://purl.obolibrary.org/obo/MONDO_0019730	Light chain deposition disease (LCDD) is a rare condition characterized by the deposition of specific proteins (monoclonal light chains) in the kidneys and other organs. Light chains are used to make antibodies that the body needs to fight infection. People with LCDD make too many light chains, which get deposited in many body tissues. While LCDD can occur in any organ, the kidneys are always involved. Signs and symptoms of LCDD may include protein in the urine ; decreased kidney function; and/or nephrotic syndrome. Rarely, a person with LCDD may have symptoms from cardiac (heart) or liver involvement. The underlying cause of LCDD is unknown. It is often associated with multiple myeloma. LCDD may progress to multiple myeloma, or it may be present with multiple myeloma when it is first diagnosed. The goal of treating LCDD is to slow the production of light chains and their damage to organs. Treatment may include chemotherapy with a drug called Bortezomib ; autologous stem cell transplantation ; immunomodulatory drugs; and/or kidney transplant. If untreated, end-stage renal disease occurs in 70% of cases.	SNOMEDCT:373604002|ORPHA:93558|UMLS:C0238239|NCIT:C7727
MONDO:0032710	developmental and epileptic encephalopathy, 72	biolink:Disease	mondo	OMIM:618374		DEE72|epileptic encephalopathy, early infantile, 72|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 72; EIEE72	http://purl.obolibrary.org/obo/MONDO_0032710		http://identifiers.org/omim/618374
MONDO:0019733	AFib amyloidosis	biolink:Disease	mondo	UMLS:CN206640|ICD10:E85.0|Orphanet:93562	ordo_clinical_subtype	familial amyloid nephropathy due to fibrinogen A alpha-chain variant|hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant|fibrinogen A alpha-chain amyloidosis|hereditary renal amyloidosis due to fibrinogen A alpha-chain variant	http://purl.obolibrary.org/obo/MONDO_0019733		UMLS:CN206640|ORPHA:93562
MONDO:0019732	ALys amyloidosis	biolink:Disease	mondo	ICD10:E85.0|UMLS:CN206639|Orphanet:93561	ordo_clinical_subtype	familial renal amyloidosis due to lysozyme variant|hereditary amyloid nephropathy due to lysozyme variant|lysozyme amyloidosis|hereditary renal amyloidosis due to lysozyme variant|familial amyloid nephropathy due to lysozyme variant	http://purl.obolibrary.org/obo/MONDO_0019732		UMLS:CN206639|ORPHA:93561
HP:0002011	Morphological central nervous system abnormality	biolink:PhenotypicFeature	mondo	UMLS:C4021765|SNOMEDCT_US:23853001|UMLS:C0007682|MSH:D002493		Morphological abnormality of the CNS|Central nervous system disease|Morphological abnormality of the central nervous system|Abnormality of the central nervous system	http://purl.obolibrary.org/obo/HP_0002011	A structural abnormality of the central nervous system.	
MONDO:0020719	obsolete susceptibility to Hirschsprung disease	biolink:Disease	mondo			HSCR	http://purl.obolibrary.org/obo/MONDO_0020719		
MONDO:0020718	congenital short bowel syndrome 1	biolink:Disease	mondo	UMLS:C0021847|OMIM:615237		CSBS|congenital short bowel syndrome; CSBS|congenital short bowel syndrome	http://purl.obolibrary.org/obo/MONDO_0020718		http://identifiers.org/omim/615237|UMLS:C0021847
MONDO:0032717	amelogenesis imperfecta, type 3c	biolink:Disease	mondo	OMIM:618386|DOID:0111722		AMELOGENESIS IMPERFECTA, TYPE IIIC; AI3C|Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Recessive	http://purl.obolibrary.org/obo/MONDO_0032717		http://identifiers.org/omim/618386|DOID:0111722
MONDO:0007759	hyperlipidemia, familial combined, LPL related	biolink:Disease	mondo	OMIM:144250		FCHL|familial combined hyperlipidemia|hyperlipidemia, familial combined|hyperlipidemia, familial combined; FCHL	http://purl.obolibrary.org/obo/MONDO_0007759		http://identifiers.org/omim/144250
MONDO:0032715	intellectual developmental disorder, autosomal recessive 69	biolink:Disease	mondo	OMIM:618383		Mental Retardation, Autosomal Recessive 69|INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69; MRT69	http://purl.obolibrary.org/obo/MONDO_0032715		http://identifiers.org/omim/618383
MONDO:0032716	leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate	biolink:Disease	mondo	OMIM:618384		LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE; ARLIAK	http://purl.obolibrary.org/obo/MONDO_0032716		http://identifiers.org/omim/618384
MONDO:0007757	hyperkeratosis-hyperpigmentation syndrome	biolink:Disease	mondo	MESH:C564172|ICD10:Q82.8|Orphanet:1336|UMLS:C1840428|OMIM:144190	ordo_disease	hyperkeratosis-hyperpigmentation syndrome	http://purl.obolibrary.org/obo/MONDO_0007757	Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993.	UMLS:C1840428|http://identifiers.org/omim/144190|ORPHA:1336|MESH:C564172
NCBITaxon:44537	Pyretophorus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_44537		
MONDO:0007758	epidermolytic palmoplantar keratoderma	biolink:Disease	mondo	Orphanet:2199|OMIM:144200|UMLS:C1721006|ICD10:Q82.8|GARD:0002826|NCIT:C84693|SCTID:399955009|DOID:0080223|ICD9:757.39	ordo_disease|gard_rare	epidermolytic palmoplantar keratoderma of Voerner|keratoderma, epidermolytic palmoplantar|hyperkeratosis palmoplantar localized epidermolytic|hyperkeratosis, localized epidermolytic|tylosis|palmoplantar keratoderma, Vorner type|palmoplantar keratoderma, epidermolytic; EPPK|epidermolytic palmoplantar keratoderma of Vörner|diffuse erythrodermic palmoplantar keratoderma, VC6rner type|keratosis of Greither|palmoplantar keratoderma, epidermolytic|epidermolytic palmoplantar keratoderma of VC6rner|diffuse erythrodermic palmoplantar keratoderma, Voerner type|diffuse erythrodermic palmoplantar keratoderma, Vörner type|keratosis palmaris Et plantaris Familiaris|EPPK|palmoplantar keratoderma, epidermolytic, with knuckle pads|Ppke	http://purl.obolibrary.org/obo/MONDO_0007758	A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas.	UMLS:C1721006|UMLS:C2931735|http://identifiers.org/omim/144200|NCIT:C84693|ORPHA:2199|DOID:0080223|SNOMEDCT:399955009|UMLS:C0343110
MONDO:0032714	facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	biolink:Disease	mondo	OMIM:618381		FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME; FHEIG	http://purl.obolibrary.org/obo/MONDO_0032714		http://identifiers.org/omim/618381
MONDO:0007755	hyperimmunoglobulin G1(A1) syndrome	biolink:Disease	mondo	MESH:C564173|OMIM:144120|UMLS:C1840429		Immunoglobulin heavy chain regulator|hyperimmunoglobulin G1(A1) syndrome	http://purl.obolibrary.org/obo/MONDO_0007755		UMLS:C1840429|http://identifiers.org/omim/144120|MESH:C564173
MONDO:0007756	hyperkeratosis lenticularis perstans (disease)	biolink:Disease	mondo	UMLS:C0263420|MESH:C538377|MedDRA:10071311|OMIM:144150|Orphanet:409|GARD:0002824|HP:0007570|SCTID:28488007	ordo_disease	Flegel's disease|hyperkeratosis lenticularis perstans; HLP|hyperkeratosis lenticularis perstans|hyperkeratosis lenticularis perstans of Flegel|HLP|Flegel disease	http://purl.obolibrary.org/obo/MONDO_0007756		UMLS:C0263420|http://identifiers.org/omim/144150|MEDDRA:10071311|MESH:C538377|ORPHA:409|SNOMEDCT:28488007
MONDO:0032712	combined oxidative phosphorylation deficiency 38	biolink:Disease	mondo	DOID:0111466|OMIM:618378		COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38; COXPD38	http://purl.obolibrary.org/obo/MONDO_0032712		DOID:0111466|http://identifiers.org/omim/618378
MONDO:0007753	Frey syndrome	biolink:Disease	mondo	GARD:0006467|MESH:D013547|SCTID:238758008|DOID:11599|EFO:1000940|OMIM:144100		Frey syndrome|auriculotemporal nerve syndrome|hyperhidrosis gustatory|Baillarger syndrome|hyperhidrosis, gustatory|Frey's syndrome|gustatory hyperhidrosis|gustatory sweating|hyperhidrosis, gustatory; HYPRG|HYPRG	http://purl.obolibrary.org/obo/MONDO_0007753	An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with parotid neoplasms, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5)	DOID:11599|SNOMEDCT:238758008|http://identifiers.org/omim/144100|MESH:D013547
NCBITaxon:44534	Cellia	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_44534		
MONDO:0007754	HYPRPP	biolink:Disease	mondo	OMIM:144110|UMLS:C1274743|MESH:C563185		hyperhidrosis, primary palmar|hyperhidrosis palmaris ET plantaris|HYPRPP|hyperhidrosis palmaris ET plantaris; HYPRPP	http://purl.obolibrary.org/obo/MONDO_0007754		http://identifiers.org/omim/144110|UMLS:C1274743|MESH:C563185
MONDO:0007751	hypercholesterolemia, autosomal dominant, type B	biolink:Disease	mondo	OMIM:144010|SCTID:238081000		hypercholesterolemia, familial, due to ligand-defective apolipoprotein B|hypercholesterolemia, autosomal dominant, type B|apolipoprotein B-100, familial ligand-defective|apolipoprotein B-100, familial defective	http://purl.obolibrary.org/obo/MONDO_0007751		SNOMEDCT:238081000|http://identifiers.org/omim/144010
MONDO:0044700	SIN3A-related intellectual disability syndrome due to a point mutation	biolink:Disease	mondo	Orphanet:500166	ordo_etiological_subtype		http://purl.obolibrary.org/obo/MONDO_0044700		ORPHA:500166
MONDO:0007752	hyperheparinemia	biolink:Disease	mondo	MESH:C562723|ICD9:286.5|UMLS:C3203346|SCTID:79674009|OMIM:144050		hyperheparinemia	http://purl.obolibrary.org/obo/MONDO_0007752		http://identifiers.org/omim/144050|MESH:C562723|SNOMEDCT:79674009|UMLS:C3203346
MONDO:0007750	hypercholesterolemia, familial, 1	biolink:Disease	mondo	OMIM:143890|SCTID:398036000		FHCL1|low density lipoprotein cholesterol level quantitative trait locus 2|hypercholesterolemic xanthomatosis, familial|hyperlipoproteinemia, type 2|hypercholesterolemia, familial|hyper-low-density-lipoproteinemia|LDL receptor disorder|FHC|hyperlipoproteinemia, type 2A	http://purl.obolibrary.org/obo/MONDO_0007750		SNOMEDCT:398036000|http://identifiers.org/omim/143890
NCBITaxon:68525	delta/epsilon subdivisions	organism taxon	mondo	PMID:11837318|GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_68525		
MONDO:0019728	heavy chain deposition disease	biolink:Disease	mondo	UMLS:C1333947|UMLS:CN206635|ICD10:D89.8|NCIT:C7339|Orphanet:93556	ordo_clinical_subtype	HCDD	http://purl.obolibrary.org/obo/MONDO_0019728		NCIT:C7339|UMLS:CN206635|ORPHA:93556|UMLS:C1333947
MONDO:0020706	Heberden's node	biolink:Disease	mondo	SCTID:239869009|NCIT:C34671		tuberculum arthriticum|Heberden's node	http://purl.obolibrary.org/obo/MONDO_0020706	Osteophytes that most commonly develop on the distal interphalangeal joints, often in the setting of osteoarthritis.	NCIT:C34671|SNOMEDCT:239869009
MONDO:0020705	neural tube defects, susceptibility to	biolink:Disease	mondo	OMIM:182940	predisposition	NTD|spina bifida|neural tube defects, SUSCEPTIBILITY to; NTD	http://purl.obolibrary.org/obo/MONDO_0020705		http://identifiers.org/omim/182940
FOODON:00001002	food product	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00001002	Food material for humans and animals which is processed with the intention that it be consumable as a whole or added to other food products.	
MONDO:0019727	mixed cryoglobulinemia type III	biolink:Disease	mondo	UMLS:CN206634|ICD10:D89.1|Orphanet:93555	ordo_etiological_subtype	MC type III	http://purl.obolibrary.org/obo/MONDO_0019727	Type III mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs.	UMLS:CN206634|ORPHA:93555
MONDO:0020704	inherited rippling muscle disease	biolink:Disease	mondo	ICD10:G71.8|MedDRA:10069417|GARD:0009164|Orphanet:97238	ordo_disease|gard_rare	RMD|rippling muscle disease|rippling muscle disease; RMD	http://purl.obolibrary.org/obo/MONDO_0020704	Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase.	ORPHA:97238
HP:0002023	Anal atresia	biolink:PhenotypicFeature	mondo	Fyler:4443|SNOMEDCT_US:204731006|MSH:D001006|MEDDRA:10002120|UMLS:C0003466|SNOMEDCT_US:204712000|Fyler:4402	hposlim_core	Imperforate anus|Absent anus	http://purl.obolibrary.org/obo/HP_0002023	Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.	
HP:0002024	Malabsorption	biolink:PhenotypicFeature	mondo	UMLS:C3714745		Intestinal malabsorption|Malabsorption	http://purl.obolibrary.org/obo/HP_0002024	Impaired ability to absorb one or more nutrients from the intestine.	
MONDO:0019729	light and heavy chain deposition disease	biolink:Disease	mondo	UMLS:CN206636|ICD10:D89.8|Orphanet:93557	ordo_clinical_subtype	LHCDD	http://purl.obolibrary.org/obo/MONDO_0019729		UMLS:CN206636|ORPHA:93557
MONDO:0020703	erythroid neoplasm	biolink:Disease	mondo	NCIT:C7064		erythroid tumor|erythroid neoplasm	http://purl.obolibrary.org/obo/MONDO_0020703		NCIT:C7064
MONDO:0019724	secondary glomerular disease	biolink:Disease	mondo	Orphanet:93551|UMLS:CN206631	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019724	Secondary glomerular diseases are conditions with glomerular pathology in which an underlying cause can be established	UMLS:CN206631|ORPHA:93551
CHEBI:33521	metal atom	biolink:ChemicalSubstance	mondo			elemental metals|metal element|metal elements|elemental metal|metals	http://purl.obolibrary.org/obo/CHEBI_33521	An atom of an element that exhibits typical metallic properties, being typically shiny, with high electrical and thermal conductivity.	
MONDO:0020702	autosomal dominant epidermolytic ichthyosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0020702		
MONDO:0019723	disease of glomerular basement membrane	biolink:Disease	mondo	Orphanet:93550|UMLS:CN206630	ordo_group_of_disorders	basement membrane disease	http://purl.obolibrary.org/obo/MONDO_0019723		UMLS:CN206630|ORPHA:93550
MONDO:0020701	brachydactyly type A1A	biolink:Disease	mondo	OMIM:112500		BRACHYDACTYLY, type A1; BDA1|Farabee-type Brachydactyly|BDA1	http://purl.obolibrary.org/obo/MONDO_0020701		http://identifiers.org/omim/112500
HP:0002027	Abdominal pain	biolink:PhenotypicFeature	mondo	UMLS:C0000737|MEDDRA:10000081|SNOMEDCT_US:21522001|MSH:D015746	hposlim_core	Upset stomach|Gastrointestinal pain|Abdominal discomfort|Pain in stomach|Stomach pain|Abdominal pain|Gastro pain	http://purl.obolibrary.org/obo/HP_0002027	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.	
MONDO:0020700	obsolete microcephaly, short stature, and impaired glucose metabolism	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0020700		
MONDO:0019726	type II mixed cryoglobulinemia	biolink:Disease	mondo	ICD10:D89.1|UMLS:CN206633|Orphanet:93554	ordo_etiological_subtype	MC type II	http://purl.obolibrary.org/obo/MONDO_0019726	Type II mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody).	UMLS:CN206633|ORPHA:93554
MONDO:0019725	pediatric systemic lupus erythematosus	biolink:Disease	mondo	Orphanet:93552|ICD10:M32.9|ICD10:M32.8|ICD10:M32.1|ICD10:M32.0	ordo_disease	SLE, pediatric onset	http://purl.obolibrary.org/obo/MONDO_0019725		ORPHA:93552
MONDO:0019720	non-syndromic renal or urinary tract malformation	biolink:Disease	mondo	Orphanet:93546	ordo_group_of_disorders	nonsyndromic congenital anomaly of kidney and urinary tract|nonsyndromic renal or urinary tract malformation|isolated renal or urinary tract malformation|isolated congenital anomaly of kidney and urinary tract	http://purl.obolibrary.org/obo/MONDO_0019720	A renal or urinary tract malformation that is not part of a larger syndrome.	ORPHA:93546
MONDO:0032721	spondyloepiphyseal dysplasia, kondo-fu type	biolink:Disease	mondo	OMIM:618392		Sed With Elevated Blood Lysosomal Enzymes|SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE; SEDKF	http://purl.obolibrary.org/obo/MONDO_0032721		http://identifiers.org/omim/618392
MONDO:0019722	glomerular disease	biolink:Disease	mondo	GTR:AN0966176|NCIT:C120887|COHD:4059452|SCTID:197679002|Orphanet:93548|UMLS:CN580795|ICD10:N00.N08	ordo_group_of_disorders	renal glomerulus disease or disorder|disorder of renal glomerulus|disease of renal glomerulus|glomerulopathies|disease or disorder of renal glomerulus|disorder of renal glomerulus|glomerulopathy|renal glomerulus disease	http://purl.obolibrary.org/obo/MONDO_0019722	A disease involving the renal glomerulus.	NCIT:C120887|SNOMEDCT:197679002|ORPHA:93548|UMLS:CN580795
MONDO:0019721	syndromic renal or urinary tract malformation	biolink:Disease	mondo	UMLS:CN227683|Orphanet:93547	ordo_group_of_disorders	syndromic renal or urinary tract malformation|syndromic congenital anomaly of kidney and urinary tract|syndrome associated with congenital anomaly of kidney and urinary tract|syndrome associated with congenital anomaly of kidney and urinary tract	http://purl.obolibrary.org/obo/MONDO_0019721	A renal or urinary tract malformation that is part of a larger syndrome.	ORPHA:93547|UMLS:CN227683
MONDO:0020709	Majocchi granuloma	biolink:Disease	mondo			Majocchi's granuloma	http://purl.obolibrary.org/obo/MONDO_0020709	An inflammatory and granulomatous, dermatophytic infection that is classified into two forms, depending on the affected individual’s health situation and clinical picture. The first form is mainly observed in healthy individuals and is defined as a perifollicular, papular form induced by penetrating trauma that is mostly observed in the lower extremities. The second form is granulomatous, related to immunosuppression, seen in a nodular form, and usually appears on the upper extremities.	
MONDO:0020708	brachial amyotrophic diplegia	biolink:Disease	mondo	NCIT:C133085		brachial amyotrophic diplegia|flail arm syndrome|man-in-barrel syndrome|BAD|FAS	http://purl.obolibrary.org/obo/MONDO_0020708	A neurodegenerative condition characterized by asymmetric weakness in the upper extremities resulting from segmental lower motor neuron dysfunction.	NCIT:C133085
MONDO:0020707	central hearing loss	biolink:Disease	mondo	NCIT:C34662		central hearing loss	http://purl.obolibrary.org/obo/MONDO_0020707	Hearing loss resulting from disorders of the central nervous system auditory pathways.	NCIT:C34662
MONDO:0007728	acne inversa, familial, 1	biolink:Disease	mondo	OMIM:142690|UMLS:CN028850		ACNINV1|acne inversa, familial|hidradenitis suppurativa, familial|acne inversa, familial, 1|NCSTN familial acne inversa|acne inversa, familial, 1; ACNINV1|acne inversa, familial, type 1|familial acne inversa caused by mutation in NCSTN	http://purl.obolibrary.org/obo/MONDO_0007728	Any familial acne inversa in which the cause of the disease is a mutation in the NCSTN gene.	http://identifiers.org/omim/142690|UMLS:CN028850
MONDO:0032728	charcot-marie-tooth disease, axonal, type 2ee	biolink:Disease	mondo	DOID:0111559|OMIM:618400		CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE; CMT2EE|Charcot-Marie-Tooth Neuropathy, Type 2Ee	http://purl.obolibrary.org/obo/MONDO_0032728		DOID:0111559|http://identifiers.org/omim/618400
MONDO:0032729	intellectual developmental disorder, autosomal recessive 70	biolink:Disease	mondo	OMIM:618402		INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70; MRT70|Mental Retardation, Autosomal Recessive 70	http://purl.obolibrary.org/obo/MONDO_0032729		http://identifiers.org/omim/618402
MONDO:0007729	DDH1	biolink:Disease	mondo	OMIM:142700	prototype_pattern	hip dysplasia, congenital|DDH1|hip dysplasia, developmental|developmental dysplasia of the hip 1; DDH1|developmental dysplasia of the hip 1|acetabular dysplasia	http://purl.obolibrary.org/obo/MONDO_0007729		http://identifiers.org/omim/142700
MONDO:0007726	hip dysplasia, Beukes type	biolink:Disease	mondo	GARD:0002690|OMIM:142669|Orphanet:2114|ICD10:Q65.8|MESH:C564185|DOID:0111367|SCTID:721148005	ordo_disease	BHD|osteoarthropathy, premature degenerative, of hip|Beukes hip dysplasia|BFHD|hip dysplasia, Beukes type|premature degenerative osteoarthropathy of the hip|Beukes hip dysplasia; BHD|Cilliers-Beighton syndrome|hip dysplasia Beukes type|Beukes familial hip dysplasia	http://purl.obolibrary.org/obo/MONDO_0007726	Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.	http://identifiers.org/omim/142669|SNOMEDCT:721148005|DOID:0111367|MESH:C564185|ORPHA:2114
MONDO:0032726	combined oxidative phosphorylation deficiency 39	biolink:Disease	mondo	OMIM:618397|Orphanet:565624|DOID:0111475		COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39; COXPD39	http://purl.obolibrary.org/obo/MONDO_0032726		DOID:0111475|http://identifiers.org/omim/618397|ORPHA:565624
MONDO:0007727	autosomal dominant familial periodic fever	biolink:Disease	mondo	MESH:C536657|Orphanet:32960|OMIM:142680|SCTID:403833009|GARD:0008457|DOID:0090018|NCIT:C119051|ICD10:E85.0	ordo_disease	Hibernian fever, familial|TNF receptor-associated periodic fever syndrome|periodic FEVER, familial, autosomal dominant|tumor necrosis factor receptor 1 associated periodic syndrome|TNF receptor-associated periodic syndrome|TNF receptor 1-associated periodic syndrome|tumor necrosis factor receptor-associated periodic syndrome|TRAPS|TRAPS syndrome|tumor necrosis factor receptor 1-associated periodic syndrome|familial Hibernian fever|FHF|FPF	http://purl.obolibrary.org/obo/MONDO_0007727	Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis.	http://identifiers.org/omim/142680|ORPHA:32960|MESH:C536657|DOID:0090018|NCIT:C119051|SNOMEDCT:403833009
MONDO:0007724	hirsutism-skeletal dysplasia-intellectual disability syndrome	biolink:Disease	mondo	OMIM:142625|ICD10:Q87.8|GARD:0005566|Orphanet:2156|MESH:C536705|UMLS:C0795976	ordo_malformation_syndrome	hirsutism skeletal dysplasia mental retardation syndrome|Wiedemann-Oldigs-Oppermann syndrome|hirsutism, skeletal dysplasia, and intellectual disability|Wiedemann Oldigs Oppermann syndrome|hirsutism, skeletal dysplasia, and mental retardation|hirsutism skeletal dysplasia intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0007724		UMLS:C0795976|MESH:C536705|ORPHA:2156|http://identifiers.org/omim/142625
MONDO:0032724	spondyloepimetaphyseal dysplasia with joint laxity, type 3	biolink:Disease	mondo	DOID:0112200|OMIM:618395		SEMDJL3|SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3; SEMDJL3	http://purl.obolibrary.org/obo/MONDO_0032724		DOID:0112200|http://identifiers.org/omim/618395
MONDO:0007725	hereditary progressive mucinous histiocytosis	biolink:Disease	mondo	UMLS:C1840586|Orphanet:158025|OMIM:142630|MESH:C564186|ICD10:D76.3	ordo_disease	histiocytosis, progressive mucinous	http://purl.obolibrary.org/obo/MONDO_0007725	Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis.	http://identifiers.org/omim/142630|MESH:C564186|ORPHA:158025|UMLS:C1840586
MONDO:0032725	developmental and epileptic encephalopathy, 74	biolink:Disease	mondo	OMIM:618396		DEE74|epileptic encephalopathy, early infantile, 74|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 74; EIEE74	http://purl.obolibrary.org/obo/MONDO_0032725		http://identifiers.org/omim/618396
MONDO:0007722	heterochromia iridis (disease)	biolink:Disease	mondo	MESH:C538115|HP:0001100|OMIM:142500		heterochromia iridis	http://purl.obolibrary.org/obo/MONDO_0007722		MESH:C538115|http://identifiers.org/omim/142500
MONDO:0032723	immunodeficiency 60	biolink:Disease	mondo	OMIM:618394		IMMUNODEFICIENCY 60; IMD60|Immunodeficiency and Autoimmunity, Bach2-Related	http://purl.obolibrary.org/obo/MONDO_0032723		http://identifiers.org/omim/618394
MONDO:0007723	Hirschsprung disease, susceptibility to, 1	biolink:Disease	mondo	UMLS:C2931876|OMIM:142623	predisposition	megacolon, aganglionic|susceptibility to Hirschsprung disease 1|HSCR1|aganglionic megacolon|RET Hirschsprung disease|Hirschsprung disease, susceptibility to, 1|Hirschsprung disease, protection against|Hirschsprung disease caused by mutation in RET|Hirschsprung disease, susceptibility to, type 1|Hirschsprung disease|Hirschsprung disease, susceptibility to, 1; HSCR1	http://purl.obolibrary.org/obo/MONDO_0007723	Any Hirschsprung disease in which the cause of the disease is a mutation in the RET gene.	UMLS:C2931876|http://identifiers.org/omim/142623
MONDO:0007720	hernia, double inguinal	biolink:Disease	mondo	MESH:C563164|UMLS:C0860251|OMIM:142350		hernia, double inguinal	http://purl.obolibrary.org/obo/MONDO_0007720		MESH:C563164|http://identifiers.org/omim/142350|UMLS:C0860251
MONDO:0007721	hiatus hernia (disease)	biolink:Disease	mondo	ICD10:K44|MESH:D006551|NCIT:C98945|HP:0002036|DOID:12642|SCTID:84089009|OMIM:142400		diaphragmatic - hiatus -hernia|hiatal hernia|hiatus hernia|hernia, hiatus	http://purl.obolibrary.org/obo/MONDO_0007721	Herniation of the upper part of the stomach through the diaphragm.	MESH:D006551|DOID:12642|NCIT:C98945|http://identifiers.org/omim/142400|SNOMEDCT:84089009
MONDO:0044710	lip and oral cavity squamous cell carcinoma	biolink:Disease	mondo	NCIT:C42690|Orphanet:502369|UMLS:C0280297	ordo_group_of_disorders	lip/oral cavity squam. cell car.|lip and oral cavity squamous cell cancer|squamous cell carcinoma of oral cavity and lip|lip and oral cavity squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0044710	A squamous cell carcinoma arising from the lip or the oral cavity. The oral cavity squamous cell carcinoma usually arises from the buccal mucosa, tongue, or gums. It occurs predominantly in adults who use tobacco and alcohol and has a tendency to metastasize early to lymph nodes.	ORPHA:502369|UMLS:C0280297|NCIT:C42690
MONDO:0019709	obsolete cleidocranial dysplasia and isolated cranial ossification defect	biolink:Disease	mondo	Orphanet:93451	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019709		ORPHA:93451
MONDO:0019717	chromosomal disease with overgrowth	biolink:Disease	mondo	UMLS:CN206622|Orphanet:93461	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019717		UMLS:CN206622|ORPHA:93461
MONDO:0019716	overgrowth syndrome	biolink:Disease	mondo	UMLS:CN206621|UMLS:C2986703|Orphanet:93460|ICD10:Q87.3|NCIT:C94828	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019716	A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome.	NCIT:C94828|UMLS:CN206621|UMLS:C2986703|ORPHA:93460
MONDO:0044705	paranasal sinus squamous cell carcinoma	biolink:Disease	mondo	NCIT:C8193|UMLS:C0280334|Orphanet:500464	ordo_disease	squamous cell carcinoma of the paranasal sinus|squamous cell carcinoma of the nasal cavity and sinuses|squamous cell carcinoma of paranasal sinus|paranasal sinus epidermoid carcinoma|epidermoid carcinoma of the paranasal sinus|epidermoid carcinoma of paranasal sinus|paranasal sinus squamous cell carcinoma|squamous cell carcinoma of the nasal cavity and paranasal sinuses	http://purl.obolibrary.org/obo/MONDO_0044705	A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid, frontal, maxillary, or sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.	NCIT:C8193|UMLS:C0280334|ORPHA:500464
MONDO:0019719	congenital anomaly of kidney and urinary tract	biolink:Disease	mondo	Orphanet:93545|UMLS:C1968949|MESH:C566906|DOID:0080205|OMIMPS:610805	ordo_group_of_disorders|clingen	congenital anomalies of the kidney and urinary tract|CAKUT|renal or urinary tract malformation|congenital anomalies of kidney and urinary tract	http://purl.obolibrary.org/obo/MONDO_0019719	A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux.	DOID:0080205|MESH:C566906|UMLS:C1968949|ORPHA:93545
GO:0140241	translation at synapse	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0140241	Translation that occurs at the synapse.	
MONDO:0019718	lethal chondrodysplasia	biolink:Disease	mondo	Orphanet:93465	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019718		ORPHA:93465
MONDO:0019713	non-syndromic limb reduction defect	biolink:Disease	mondo	ICD10:Q73.8|ICD10:Q72.9|ICD10:Q71.9|ICD10:Q72.8|ICD10:Q71.8|ICD10:Q72.7|ICD10:Q72.6|ICD10:Q72.2|ICD10:Q71.2|ICD10:Q71.6|ICD10:Q72.5|ICD10:Q72.1|ICD10:Q71.1|ICD10:Q71.5|ICD10:Q72.4|ICD10:Q71.4|ICD10:Q72.3|ICD10:Q71.3|ICD10:Q73.1|ICD10:Q73.0|ICD10:Q72.0|ICD10:Q71.0|Orphanet:93457	ordo_group_of_disorders	nonsyndromic limb reduction defect|non-syndromic limb hypoplasia|isolated limb reduction defect	http://purl.obolibrary.org/obo/MONDO_0019713		ORPHA:93457
MONDO:0044702	X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome	biolink:Disease	mondo	OMIM:301018|DOID:0111738|Orphanet:500188	ordo_malformation_syndrome	DFNX7|deafness, X-linked 7|deafness, X-linked 7; DFNX7	http://purl.obolibrary.org/obo/MONDO_0044702		ORPHA:500188|DOID:0111738|http://identifiers.org/omim/301018
GO:0140243	regulation of translation at synapse	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0140243	Any process that regulates translation occurring at the synapse.	
MONDO:0019712	patellar dysostosis	biolink:Disease	mondo	Orphanet:93455	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019712		ORPHA:93455
MONDO:0044701	childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	biolink:Disease	mondo	Orphanet:500180|OMIM:617672|UMLS:CN469330	ordo_disease	CONDBA|neurodegeneration, childhood-onset, with brain atrophy; CONDBA|UBTF-related disorder|neurodegeneration, childhood-onset, with brain atrophy	http://purl.obolibrary.org/obo/MONDO_0044701		ORPHA:500180|http://identifiers.org/omim/617672|UMLS:CN469330
GO:0140242	translation at postsynapse	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0140242	Translation that occurs at the postsynapse.	
MONDO:0019715	syndrome with synostosis or other joint formation defect	biolink:Disease	mondo	UMLS:CN206620|Orphanet:93459	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019715		UMLS:CN206620|ORPHA:93459
MONDO:0044704	oropharynx squamous cell carcinoma	biolink:Disease	mondo	NCIT:C8181|ONCOTREE:OPHSC|Orphanet:500478	ordo_disease	squamous cell carcinoma of the oropharynx|squamous cell carcinoma of oropharynx|oropharyngeal epidermoid carcinoma|oropharyngeal squamous cell carcinoma|oropharyngeal throat squamous cell cancer|epidermoid carcinoma of oropharynx|epidermoid carcinoma of the oropharynx	http://purl.obolibrary.org/obo/MONDO_0044704	A squamous cell carcinoma that involves the oropharynx.	NCIT:C8181|ORPHA:500478
GO:0140245	regulation of translation at postsynapse	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0140245	Any process that regulates translation occurring at the postsynapse.	
FOODON:00001015	plant food product	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00001015	This class includes food products which are derived from or produced by a plant.	
MONDO:0019714	non-syndromic polydactyly, syndactyly and/or hyperphalangy	biolink:Disease	mondo	Orphanet:93458	ordo_group_of_disorders	isolated polydactyly, syndactyly and/or hyperphalangy|nonsyndromic polydactyly, syndactyly and/or hyperphalangy	http://purl.obolibrary.org/obo/MONDO_0019714		ORPHA:93458
GO:0140244	regulation of translation at presynapse	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0140244	Any process that regulates translation occurring at the presynapse.	
MONDO:0032732	deafness, autosomal recessive 113	biolink:Disease	mondo	DOID:0111636|OMIM:618410		DEAFNESS, AUTOSOMAL RECESSIVE 113; DFNB113	http://purl.obolibrary.org/obo/MONDO_0032732		DOID:0111636|http://identifiers.org/omim/618410
MONDO:0019711	obsolete dysostosis with predominant vertebral and costal involvement	biolink:Disease	mondo	Orphanet:93454	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019711		ORPHA:93454
MONDO:0032730	leukodystrophy, hypomyelinating, 18	biolink:Disease	mondo	OMIM:618404		LEUKODYSTROPHY, HYPOMYELINATING, 18; HLD18	http://purl.obolibrary.org/obo/MONDO_0032730		http://identifiers.org/omim/618404
MONDO:0019710	obsolete dysostosis with predominant craniofacial involvement	biolink:Disease	mondo	Orphanet:93453	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019710		ORPHA:93453
MONDO:0044709	cochleovestibular dysplasia	biolink:Disease	mondo	Orphanet:502305	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0044709		ORPHA:502305
MONDO:0007719	diaphragmatic hernia, congenital 1	biolink:Disease	mondo	OMIM:142340	prototype_pattern	hernia, congenital diaphragmatic|diaphragmatic hernia 1|hemidiaphragm, agenesis of|diaphragm, complete agenesis of|diaphragm, unilateral agenesis of|DIH1|diaphragmatic hernia, congenital|diaphragmatic defect, congenital	http://purl.obolibrary.org/obo/MONDO_0007719		http://identifiers.org/omim/142340
MONDO:0032739	spermatogenic failure 36	biolink:Disease	mondo	OMIM:618420		SPERMATOGENIC FAILURE 36; SPGF36	http://purl.obolibrary.org/obo/MONDO_0032739		http://identifiers.org/omim/618420
MONDO:0007739	Huntington disease	biolink:Disease	mondo	UMLS:C0020179|GARD:0006677|Orphanet:399|MedDRA:10070668|KEGG:05016|DOID:12858|ICD9:333.4|NCIT:C82342|ICD10:G10|COHD:374341|OMIM:143100|SCTID:58756001	ordo_disease	Huntington's disease|Huntington's chorea|Huntington disease|HD|Huntington disease; HD|Huntington chorea	http://purl.obolibrary.org/obo/MONDO_0007739	Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.	ORPHA:399|MESH:D006816|DOID:12858|SNOMEDCT:58756001|UMLS:C0020179|http://identifiers.org/omim/143100|NCIT:C82342|MEDDRA:10070668
MONDO:0007737	humeroradial synostosis (disease)	biolink:Disease	mondo	ICD9:755.59|DOID:0060467|ICD10:Q74.0|Orphanet:3265|OMIM:143050|GARD:0002748|SCTID:205329008|HP:0003041	ordo_morphological_anomaly	humeroradial synostosis|humero-radial fusion|humero-radial synostosis	http://purl.obolibrary.org/obo/MONDO_0007737	Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present.	DOID:0060467|UMLS:C0431800|http://identifiers.org/omim/143050|ORPHA:3265|SNOMEDCT:205329008
MONDO:0032737	spastic paraplegia 80, autosomal dominant	biolink:Disease	mondo	OMIM:618418		SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT; SPG80	http://purl.obolibrary.org/obo/MONDO_0032737		http://identifiers.org/omim/618418
MONDO:0007738	spondyloepiphyseal dysplasia with congenital joint dislocations	biolink:Disease	mondo	GARD:0002533|OMIM:143095|Orphanet:263463|SCTID:702400006|ICD10:Q74.8|DOID:0050813|MESH:C537283|ICD9:756.9	gard_rare|ordo_disease	chondrodysplasia with multiple dislocations|spondyloepiphyseal dysplasia, Omani type|SDCD, CHST3 type|spondyloepiphyseal dysplasia|humero-spinal dysostosis with congenital heart disease|Kozlowski Celermajer tink syndrome|chondrodysplasia with congenital joint dislocations, CHST3 type|spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type|spondyloepiphyseal dysplasia with congenital joint dislocations|CHST3-related skeletal dysplasia|spondyloepiphyseal dysplasia with congenital JOINT dislocations; SEDCJD|Gollop Coates syndrome|SEDCJD|Omani type|Humerospinal dysostosis|bifurcation of distal humerus with oligoectro-syndactyly	http://purl.obolibrary.org/obo/MONDO_0007738	CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.	DOID:0050813|SNOMEDCT:702400006|ORPHA:263463|http://identifiers.org/omim/143095|MESH:C537283
MONDO:0032738	gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	biolink:Disease	mondo	OMIM:618419		GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY; GDRM	http://purl.obolibrary.org/obo/MONDO_0032738		http://identifiers.org/omim/618419
MONDO:0007735	congenital Horner syndrome (disease)	biolink:Disease	mondo	ICD10:G90.2|MESH:C564178|HP:0006837|UMLS:C1840475|Orphanet:91413|OMIM:143000	ordo_disease	HORNER syndrome, congenital|congenital Horner syndrome|congenital Claude-Bernard-Horner syndrome	http://purl.obolibrary.org/obo/MONDO_0007735	Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported.	MESH:C564178|UMLS:C1840475|http://identifiers.org/omim/143000|ORPHA:91413
MONDO:0032735	cataract 48	biolink:Disease	mondo	DOID:0070354|OMIM:618415		CATARACT 48; CTRCT48	http://purl.obolibrary.org/obo/MONDO_0032735		http://identifiers.org/omim/618415|DOID:0070354
MONDO:0007736	HPA 1 Recognition polymorphism, beta-globin-related	biolink:Disease	mondo	OMIM:143020		restriction fragment length polymorphism, sickle cell Anemia-related|HPA1|HPA I RECOGNITION polymorphism, BETA-globin-RELATED; HPA1|HPA I RECOGNITION polymorphism, BETA-globin-related	http://purl.obolibrary.org/obo/MONDO_0007736		http://identifiers.org/omim/143020
MONDO:0032736	metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression	biolink:Disease	mondo	OMIM:618416		METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION; MECREN	http://purl.obolibrary.org/obo/MONDO_0032736		http://identifiers.org/omim/618416
MONDO:0007733	holoprosencephaly 3	biolink:Disease	mondo	OMIM:142945|DOID:0110875|MESH:C564181|UMLS:C1840529		SHH holoprosencephaly|Shh holoprosencephaly|HPE3|holoprosencephaly 3|holoprosencephaly caused by mutation in Shh|holoprosencephaly caused by mutation in SHH|HLP3|holoprosencephaly 3; HPE3|Hlp3|holoprosencephaly type 3	http://purl.obolibrary.org/obo/MONDO_0007733	Any holoprosencephaly in which the cause of the disease is a mutation in the SHH gene.	MESH:C564181|DOID:0110875|UMLS:C1840529|http://identifiers.org/omim/142945
MONDO:0032733	global developmental delay, progressive ataxia, and elevated glutamine	biolink:Disease	mondo	OMIM:618412		GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE; GDPAG|Glutaminase Deficiency With Impaired Intellectual Development and Progressive Ataxia	http://purl.obolibrary.org/obo/MONDO_0032733		http://identifiers.org/omim/618412
UBERON:0016570	lamina of gray matter of spinal cord	biolink:AnatomicalEntity	mondo			rexed lamina	http://purl.obolibrary.org/obo/UBERON_0016570		
MONDO:0007734	holoprosencephaly 4	biolink:Disease	mondo	UMLS:C1840528|OMIM:142946|MESH:C564180|DOID:0110880|NCIT:C75475		TGIF1 holoprosencephaly|holoprosencephaly 4|holoprosencephaly type 4|holoprosencephaly 4; HPE4|holoprosencephaly caused by mutation in TGIF1|HPE4	http://purl.obolibrary.org/obo/MONDO_0007734	A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis.	NCIT:C75475|MESH:C564180|DOID:0110880|UMLS:C1840528|http://identifiers.org/omim/142946
MONDO:0007731	obsolete HLA modifier	biolink:Disease	mondo			HLA modifier	http://purl.obolibrary.org/obo/MONDO_0007731		
MONDO:0044720	cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	biolink:Disease	mondo	Orphanet:504476	ordo_disease	cerebellar ataxia with bilateral vestibulopathy syndrome|CANVAS|CABV syndrome	http://purl.obolibrary.org/obo/MONDO_0044720		ORPHA:504476
GO:0140236	translation at presynapse	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0140236	Translation that occurs at the presynapse.	
MONDO:0007732	Holt-Oram syndrome	biolink:Disease	mondo	NCIT:C125592|MedDRA:10050469|ICD9:759.89|MESH:C535326|GARD:0006666|UMLS:C0265264|OMIM:142900|DOID:0060468|ICD10:Q87.2|SCTID:19092004|Orphanet:392	ordo_malformation_syndrome	Holt-Oram syndrome|HOLT-Oram syndrome; HOS|atriodigital dysplasia type 1|heart-hand syndrome|atrio-digital syndrome|heart-hand syndrome type 1|Cardiac-limb syndrome|HOS 1|heart-hand syndrome, type 1|atriodigital dysplasia|atriodigital dysplasia|ventriculo-radial syndrome|HOS|Hos1|atrio digital syndrome	http://purl.obolibrary.org/obo/MONDO_0007732	Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.	MESH:C535326|MEDDRA:10050469|DOID:0060468|SNOMEDCT:19092004|NCIT:C125592|UMLS:C0265264|ORPHA:392|http://identifiers.org/omim/142900
CHEBI:33504	alkali metal cation	biolink:ChemicalSubstance	mondo			alkali metal cations	http://purl.obolibrary.org/obo/CHEBI_33504		
GO:0140238	presynaptic endocytosis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0140238	A vesicle-mediated transport process in which the presynapse take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle.	
MONDO:0044721	severe combined immunodeficiency due to LAT deficiency	biolink:Disease	mondo	UMLS:C4479588|OMIM:617514|Orphanet:504523	ordo_disease	SCID due to LAT deficiency|immunodeficiency 52|immunodeficiency 52; IMD52|IMD52	http://purl.obolibrary.org/obo/MONDO_0044721		UMLS:C4479588|http://identifiers.org/omim/617514|ORPHA:504523
MONDO:0007730	histiocytic dermatoarthritis	biolink:Disease	mondo	MESH:C564183|OMIM:142730|UMLS:C1840551		histiocytic dermatoarthritis	http://purl.obolibrary.org/obo/MONDO_0007730		UMLS:C1840551|http://identifiers.org/omim/142730|MESH:C564183
GO:0140237	translation at presynapse, modulating chemical synaptic transmission	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0140237	Translation that occurs at the presynapse, and that modulates chemical synaptic transmission.	
GO:0140239	postsynaptic endocytosis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0140239	A vesicle-mediated transport process in which the postsynapse take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle.	
MONDO:0019706	lysosomal storage disease with skeletal involvement	biolink:Disease	mondo	ICD9:756.9|SCTID:254069004|UMLS:CN206618|Orphanet:93448	ordo_group_of_disorders	dysostosis multiplex	http://purl.obolibrary.org/obo/MONDO_0019706		SNOMEDCT:254069004|UMLS:CN206618|ORPHA:93448
MONDO:0044717	4q25 proximal deletion syndrome	biolink:Disease	mondo	Orphanet:502437	ordo_malformation_syndrome	proximal del(4)(q25)|proximal monosomy 4q25	http://purl.obolibrary.org/obo/MONDO_0044717		ORPHA:502437
MONDO:0019705	primary bone dysplasia with defective bone mineralization	biolink:Disease	mondo	Orphanet:93447	ordo_group_of_disorders	primary osteodysplasia with defective bone mineralization|primary skeletal dysplasia with defective bone mineralization	http://purl.obolibrary.org/obo/MONDO_0019705		ORPHA:93447
MONDO:0044716	obsolete STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0044716		
MONDO:0019708	primary bone dysplasia with disorganized development of skeletal components	biolink:Disease	mondo	Orphanet:93450	ordo_group_of_disorders	primary osteodysplasia with disorganized development of skeletal components|primary skeletal dysplasia with disorganized development of skeletal components	http://purl.obolibrary.org/obo/MONDO_0019708		ORPHA:93450
MONDO:0044719	erythema multiforme major	biolink:Disease	mondo	NCIT:C3385|Orphanet:502499	ordo_disease	erythema multiforme majus|erythema exsudativum multiforme majus	http://purl.obolibrary.org/obo/MONDO_0044719	A severe, sometimes life-threatening, form of erythema multiforme. It is considered to be a hypersensitivity skin reaction triggered by a variety of stimuli, including infections and medication. It is characterized by raised, edematous papules in the extremities; involvement of one or more mucous membranes; and epidermal detachment involving less than ten percent of the total body surface area.	NCIT:C3385|ORPHA:502499
MONDO:0019707	primary osteolysis	biolink:Disease	mondo	Orphanet:93449	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019707		ORPHA:93449
MONDO:0044718	alkaline ceramidase 3 deficiency	biolink:Disease	mondo	UMLS:CN603947|Orphanet:502444|OMIM:617762	ordo_disease	leukodystrophy, progressive, early childhood-onset|ACER3-related early childhood-onset progressive leukodystrophy|leukodystrophy, progressive, early childhood-onset; PLDECO|PLDECO|leukodystrophy due to alkaline ceramidase 3 deficiency	http://purl.obolibrary.org/obo/MONDO_0044718		ORPHA:502444|UMLS:CN603947|http://identifiers.org/omim/617762
MONDO:0019702	neonatal osteosclerotic dysplasia	biolink:Disease	mondo	Orphanet:93443|SCTID:389236000|UMLS:C1300205	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019702		SNOMEDCT:389236000|UMLS:C1300205|ORPHA:93443
UBERON:0004590	sphincter muscle	biolink:AnatomicalEntity	mondo			sphincter|circular muscle	http://purl.obolibrary.org/obo/UBERON_0004590	A structure, usually a circular muscle, that normally maintains constriction of a natural body passage or orifice and which relaxes as required by normal physiological functioning.	
MONDO:0019701	chondrodysplasia punctata	biolink:Disease	mondo	Orphanet:93442|ICD9:756.59|MESH:D002806|DOID:2581|NCIT:C84632|GARD:0008542|ICD10:Q77.3|UMLS:C0008445|SCTID:360507004	ordo_group_of_disorders	CDP|chondrodysplasia calcificans congenita|chondrodysplasia punctata congenita|chondrodysplasia punctata (stippled epiphyses) Group	http://purl.obolibrary.org/obo/MONDO_0019701	A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis.	UMLS:C0008445|SNOMEDCT:360507004|DOID:2581|NCIT:C84632|ORPHA:93442|MESH:D002806
MONDO:0019704	primary bone dysplasia with decreased bone density	biolink:Disease	mondo	Orphanet:93446	ordo_group_of_disorders	primary osteodysplasia with decreased bone density|primary skeletal dysplasia with decreased bone density	http://purl.obolibrary.org/obo/MONDO_0019704		ORPHA:93446
MONDO:0044715	metopic ridging-ptosis-facial dysmorphism syndrome	biolink:Disease	mondo	Orphanet:502430	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0044715		ORPHA:502430
MONDO:0019703	primary bone dysplasia with increased bone density	biolink:Disease	mondo	Orphanet:93444|UMLS:CN043667	ordo_group_of_disorders	sclerosing bone dysplasia|primary skeletal dysplasia with increased bone density|primary osteodysplasia with increased bone density	http://purl.obolibrary.org/obo/MONDO_0019703		UMLS:CN043667|ORPHA:93444
MONDO:0044714	mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	biolink:Disease	mondo	Orphanet:502423|UMLS:CN484737|OMIM:617675	ordo_disease	myopathy, mitochondrial, and ataxia|MMYAT|mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome|myopathy, mitochondrial, and ataxia; MMYAT	http://purl.obolibrary.org/obo/MONDO_0044714		UMLS:CN484737|ORPHA:502423|http://identifiers.org/omim/617675
MONDO:0032742	encephalopathy, acute, infection-induced, susceptibility to, 9	biolink:Disease	mondo	OMIM:618426		ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9; IIAE9	http://purl.obolibrary.org/obo/MONDO_0032742		http://identifiers.org/omim/618426
MONDO:0032740	deafness, autosomal recessive 100	biolink:Disease	mondo	DOID:0111638|OMIM:618422		DEAFNESS, AUTOSOMAL RECESSIVE 100; DFNB100	http://purl.obolibrary.org/obo/MONDO_0032740		DOID:0111638|http://identifiers.org/omim/618422
MONDO:0019700	primary bone dysplasia with multiple joint dislocations	biolink:Disease	mondo	Orphanet:93441	ordo_group_of_disorders	primary skeletal dysplasia with multiple joint dislocations|primary osteodysplasia with multiple joint dislocations	http://purl.obolibrary.org/obo/MONDO_0019700		ORPHA:93441
MONDO:0032741	neurodevelopmental disorder with impaired speech and hyperkinetic movements	biolink:Disease	mondo	OMIM:618425		NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS; NEDISHM	http://purl.obolibrary.org/obo/MONDO_0032741		http://identifiers.org/omim/618425
MONDO:0005127	lepromatous leprosy	biolink:Disease	mondo	ICD9:030.0|MESH:D015440|DOID:10887|ICD10:A30.5|SCTID:21560005|COHD:137207|EFO:0001057|UMLS:C0023348		type L leprosy|lepromatous leprosy [type L]	http://purl.obolibrary.org/obo/MONDO_0005127	A chronic communicable infection which is a principal or polar form of leprosy. This disorder is caused by mycobacterium leprae and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage.	DOID:10887|MESH:D015440|UMLS:C0023348|SNOMEDCT:21560005
MONDO:0005126	tuberculoid leprosy	biolink:Disease	mondo	UMLS:C0023351|SCTID:70143003|DOID:1025|MESH:D015441|ICD10:A30.1|COHD:136898|EFO:0001056|ICD9:030.1		smooth leprosy|type T leprosy|tuberculoid leprosy [type T]	http://purl.obolibrary.org/obo/MONDO_0005126	A principal or polar form of leprosy in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (leprosy, lepromatous), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others.	MESH:D015441|SNOMEDCT:70143003|UMLS:C0023351|DOID:1025
MONDO:0005129	cataract (disease)	biolink:Disease	mondo	NCIT:C26713|HP:0000518|ICD9:366.8|ICD9:366.9|ICD9:366|COHD:375545|EFO:0001059|ICD9:366.44|DOID:83|OMIMPS:116200|ICD10:H26|MESH:D002386|SCTID:193570009		opacity of the lens|cataract	http://purl.obolibrary.org/obo/MONDO_0005129	Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)	NCIT:C26713|DOID:83|MESH:D002386|SNOMEDCT:193570009
MONDO:0007788	hypertriglyceridemia, familial	biolink:Disease	mondo	SCTID:34528009|OMIM:145750		hypertriglyceridemia, familial|hereditary hypertriglyceridemia (disease)	http://purl.obolibrary.org/obo/MONDO_0007788	An instance of hypertriglyceridemia (disease) that is caused by an inherited modification of the individual's genome.	http://identifiers.org/omim/145750|SNOMEDCT:34528009
MONDO:0007789	hypertrophia musculorum vera	biolink:Disease	mondo	OMIM:145800|MESH:C564152|UMLS:C1840361		hypertrophia musculorum vera	http://purl.obolibrary.org/obo/MONDO_0007789		http://identifiers.org/omim/145800|MESH:C564152|UMLS:C1840361
MONDO:0005128	obsolete sensory system disease	biolink:Disease	mondo	DOID:0050155|EFO:0001058		sensory system disease or disorder|disorder of sensory system|disease or disorder of sensory system|disease of sensory system|disorder of sensory system|sensory system disease|sensory disease	http://purl.obolibrary.org/obo/MONDO_0005128	A disease involving the sensory system.	DOID:0050155
MONDO:0020764	carcinoma, Brown-Pearce	biolink:Disease	mondo	UMLS:C0007122|MESH:D002284|EFO:1001278		Brown-Pearce Carcinoma|Epithelioma, Brown Pearce|Epithelioma, Brown-Pearce|Carcinoma, Brown-Pearce|Carcinoma, Brown Pearce|Brown-Pearce Epithelioma	http://purl.obolibrary.org/obo/MONDO_0020764		UMLS:C0007122|MESH:D002284
MONDO:0005123	obsolete Hibiscus chlorotic ringspot virus infection	biolink:Disease	mondo	EFO:0000782			http://purl.obolibrary.org/obo/MONDO_0005123		
MONDO:0007786	obsolete hypertrichosis lanuginosa congenita	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0007786		
MONDO:0007787	Ambras type hypertrichosis universalis congenita	biolink:Disease	mondo	GARD:0008206|UMLS:C1840362|ICD10:Q84.2|Orphanet:1023|OMIM:145701|DOID:0111060	ordo_clinical_subtype	hypertrichosis universalis congenita, Ambras type; HTC1|hypertrichosis universalis congenita Ambras type|HTC 1|hypertrichosis universalis congenita, Ambras type|Ambras syndrome|hypertrichosis, congenital generalized|congenital generalized hypertrichosis, Ambras type|HTC1	http://purl.obolibrary.org/obo/MONDO_0007787	Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth.	http://identifiers.org/omim/145701|ORPHA:1023|DOID:0111060|MESH:C536605|UMLS:C1840362
MONDO:0005122	Pectobacterium carotovorum infection	biolink:Disease	mondo	EFO:0000781|Wikipedia:Pectobacterium_carotovorum		Pectobacterium disease or disorder|Pectobacterium infectious disease|Pectobacterium caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005122	A bacterial infection induced by Pectobacterium carotovorum which is is a bacterium of the family Enterobacteriaceae. This bacterius is a ubiquitous plant pathogen with a wide host range (carrot, potato, tomato, leafy greens, squash and other cucurbits, onion, green peppers, African violets etc.), able to cause disease in almost any plant tissue it invades. It is a very economically important pathogen in terms of postharvest losses, and a common cause of decay in stored fruits and vegetables. Decay caused by E. carotovora is often simply referred to as "bacterial soft rot" (BSR) though this may also be caused by other bacteria. Most plants or plant parts can resist invasion by the bacteria, unless some type of wound is present. High humidity and temperatures around 30°C favor development of decay. Mutants can be produced which are less virulent. Virulence factors include: pectinases, cellulases, (which degrade plant cell walls), and also proteases, lipases, xylanases and nucleases (along with the normal virulence factors for pathogens – Fe acquisition, LPS integrity, multiple global regulatory systems).	
MONDO:0020763	Menke-Hennekam syndrome 1	biolink:Disease	mondo	OMIM:618332		Menke-Hennekam syndrome 1; MKHK1	http://purl.obolibrary.org/obo/MONDO_0020763		http://identifiers.org/omim/618332
MONDO:0005125	borderline leprosy	biolink:Disease	mondo	SCTID:400154003|DOID:1023|ICD10:A30.3|EFO:0001055|UMLS:C3251797|MESH:D015439|UMLS:C0023346|ICD9:030.3		borderline or dimorphous leprosy|Midborderline leprosy|borderline leprosy [group B]	http://purl.obolibrary.org/obo/MONDO_0005125	A form of leprosy in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms.	UMLS:C3251797|MESH:D015439|UMLS:C0023346|SNOMEDCT:400154003|DOID:1023
MONDO:0020762	diencephalic-mesencephalic junction dysplasia syndrome 2	biolink:Disease	mondo	OMIM:618646		DMJDS2|spastic tetraparesis, dystonia, developmental delay, and structural abnormalities of the basal ganglia	http://purl.obolibrary.org/obo/MONDO_0020762		http://identifiers.org/omim/618646
MONDO:0007784	selective pituitary resistance to thyroid hormone	biolink:Disease	mondo	ICD10:E05.8|DOID:0111374|UMLS:C1840364|MESH:C564154|Orphanet:165994|OMIM:145650	ordo_disease	thyroid hormone resistance, selective pituitary; PRTH|thyroid hormone resistance, selective pituitary|PRTH|pituitary resistance to thyroid hormone|hyperthyroidism, familial, due to inappropriate thyrotropin secretion	http://purl.obolibrary.org/obo/MONDO_0007784	Pituitary resistance to thyroid hormone is a rare, genetic thyroid disease, due to reduced pituitary gland responsiveness to thyroid hormone, characterized by mild to moderate hyperthyroidism in association with elevated circulating thyroid hormone levels, normal or elevated thyroid stimulating hormone, and no abnormalities of the pituitary gland on MRI. Patients present with diffuse large goiter, tachycardia, atrial fibrillation, weight loss and/or heat intolerance/perspiration, but no exophthalmos or anterior tibial mixedema.	ORPHA:165994|MESH:C564154|DOID:0111374|UMLS:C1840364|http://identifiers.org/omim/145650
MONDO:0020761	Bowen disease of the skin	biolink:Disease	mondo	MESH:D001913|GARD:0005948|ICDO:8081/2|NCIT:C62571|UMLS:C0006079	gard_rare	Disease, Bowen|Bowen disease of the skin|Disease, Bowen's|Bowen Disease|Bowens Disease|Bowen's disease of the skin|Bowen disease|intraepidermal squamous cell carcinoma, Bowen type	http://purl.obolibrary.org/obo/MONDO_0020761	A form of squamous cell carcinoma in situ. It is a distinct clinicopathological entity and arises from the skin or the mucocutaneous junction. It affects predominantly white males in their 6-8th decades of life. Exposed and non-exposed skin sites are equally affected. UV damage and ingestion of inorganic arsenic may play a role in the development of the disease. On the skin surface, it presents as a single or multiple erythematous, scaly, keratotic patches or plaques. The clinical entity of erythroplasia of Queyrat is regarded as Bowen disease of the penis and it presents as an asymptomatic, red, circumscribed plaque. Morphologically, Bowen disease is characterized by the presence of hyperkeratosis, parakeratosis, dyskeratosis, and acanthosis. The keratotic squamous cells are atypical and display hyperchromatism and abnormal mitotic figures. The dermoepidermal basement membrane is intact. Complete surgical removal of the lesion may be curative.	NCIT:C62571|UMLS:C0006079|MESH:D001913
MONDO:0005124	leprosy	biolink:Disease	mondo	MedDRA:10024229|ICD10:A30.3|ICD9:030.8|ICD10:A30.2|ICD9:030|ICD10:A30.1|ICD10:A30.0|Orphanet:548|NCIT:C84824|DOID:1024|EFO:0001054|GARD:0006886|COHD:432821|ICD10:A30.9|SCTID:81004002|ICD9:030.9|UMLS:C0023343|ICD10:A30.8|ICD10:A30|MESH:D007918|ICD10:A30.5|ICD10:A30.4	ordo_disease	Mycobacterium leprae infectious disease|Mycobacterium leprae caused disease or disorder|Hansen disease|Hansen's disease|Mycobacterium leprae disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005124	Leprosy is a chronic infectious disease affecting primarily the skin and peripheral nervous system.	NCIT:C84824|MEDDRA:10024229|SNOMEDCT:81004002|ORPHA:548|UMLS:C0023343|DOID:1024|MESH:D007918
MONDO:0007785	hyperthyroxinemia, dystransthyretinemic	biolink:Disease	mondo	UMLS:C2750824|OMIM:145680|MESH:C567719|DOID:0080219		hyperthyroxinemia, dystransthyretinemic; DTTRH|dystransthyretinemic Euthyroidal hyperthyroxinemia|dystransthyretinemic hyperthyroxinemia|hyperthyroxinemia, dystransthyretinemic|Euthryroidal hyperthyroxinemia 2|hyperthyroxinemia, Dysprealbuminemic|DTTRH	http://purl.obolibrary.org/obo/MONDO_0007785		DOID:0080219|MESH:C567719|UMLS:C2750824|http://identifiers.org/omim/145680
MONDO:0020760	skin squamous cell carcinoma in situ	biolink:Disease	mondo	NCIT:C2906		squamous cell carcinoma in situ of skin|intraepidermal squamous cell carcinoma|squamous cell carcinoma in situ of the skin|skin squamous cell cancer in situ|skin squamous cell carcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0020760	Intraepidermal squamous cell carcinoma, confined to the epidermis. There is no evidence of invasion.	NCIT:C2906
MONDO:0007782	hyperthermia, cutaneous, with headaches and nausea	biolink:Disease	mondo	MESH:C564156|OMIM:145590|UMLS:C1840373		hyperthermia, cutaneous, with headaches and nausea|farmer syndrome	http://purl.obolibrary.org/obo/MONDO_0007782		MESH:C564156|UMLS:C1840373|http://identifiers.org/omim/145590
FOODON:03305803	goat milk (raw)	biolink:OntologyClass	mondo	SUBSET_SIREN:F5803	"subset_siren"		http://purl.obolibrary.org/obo/FOODON_03305803		
MONDO:0007783	malignant hyperthermia, susceptibility to, 1	biolink:Disease	mondo	OMIM:145600|EFO:0009071|UMLS:CN031421|MESH:C535694|GARD:0003363	gard_rare|predisposition	hyperthermia of anesthesia|King-Denborough syndrome|RYR1 malignant hyperthermia of anesthesia|hyperpyrexia, malignant|MHS1|King syndrome|susceptibility to malignant hyperthermia 1|malignant hyperthermia, susceptibility to, type 1|MHS|hyperpyrexia, malignant;MH KING syndrome, included|King-Denborough syndrome, included|malignant hyperthermia, susceptibility to, 1; MHS1|malignant hyperthermia of anesthesia caused by mutation in RYR1|malignant hyperthermia, susceptibility to, 1|malignant hyperthermia susceptibility type 1	http://purl.obolibrary.org/obo/MONDO_0007783	Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the RYR1 gene.	UMLS:CN031421|MESH:C535694|http://identifiers.org/omim/145600
MONDO:0005121	Enterococcus faecalis infection	biolink:Disease	mondo	EFO:0000780		Enterococcus faecalis disease or disorder|Enterococcus faecalis infectious disease|Enterococcus faecalis caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005121	A bacterial infection induced by Enterococcus faecalis which is the most prevalent species (along with Enterococcus faecium) cultured from humans, accounting for more than 90% of clinical isolates. Enterococci are part of the normal intestinal flora of humans and animals. They have been long recognized as important human pathogens.	
MONDO:0007780	hypertelorism, Teebi type	biolink:Disease	mondo	GARD:0000957|Orphanet:1519|UMLS:CN199596|UMLS:C0796179|SCTID:724284005|ICD10:Q87.0|OMIM:145420	ordo_malformation_syndrome	hypertelorism, Teebi type|craniofrontonasal dysplasia, Teebi type|Teebi syndrome|Teebi hypertelorism syndrome|Brachycephalofrontonasal dysplasia	http://purl.obolibrary.org/obo/MONDO_0007780	Teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia, such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes.	ORPHA:1519|SNOMEDCT:724284005|UMLS:CN199596|http://identifiers.org/omim/145420|UMLS:C0796179
MONDO:0007781	essential hypertension, genetic	biolink:Disease	mondo	OMIM:145500		Eht|genetic essential hypertension|hypertension, essential	http://purl.obolibrary.org/obo/MONDO_0007781	An instance of essential hypertension that is caused by a modification of the individual's genome.	http://identifiers.org/omim/145500
MONDO:0005120	Drosophila C virus infection	biolink:Disease	mondo	PMID:25253354|EFO:0000779		Drosophila C virus disease or disorder|Drosophila C virus infectious disease|Drosophila C virus caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005120	A virus infection induced by Drosophila C virus (DCV) which is a positive-sense RNA virus belonging to the Dicistroviridae family. This natural pathogen of the model organism Drosophila melanogaster is commonly used to investigate antiviral host-defense in flies, which involves both RNA interference and inducible responses.	
HP:0002059	Cerebral atrophy	biolink:PhenotypicFeature	mondo	UMLS:C4020860|SNOMEDCT_US:278849000|UMLS:C0235946|SNOMEDCT_US:52522001|UMLS:C0154671|SNOMEDCT_US:418143002		Degeneration of cerebrum|Supratentorial atrophy	http://purl.obolibrary.org/obo/HP_0002059	Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.	
MONDO:0020759	epilepsy, childhood absence, susceptibility to, 1	biolink:Disease	mondo	OMIM:600131		epilepsy, childhood absence, susceptibility to, 1; ECA1|epilepsy, childhood absence, susceptibility to, 1|ECA1	http://purl.obolibrary.org/obo/MONDO_0020759		http://identifiers.org/omim/600131
MONDO:0020758		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0020758		
MONDO:0020757	sporadic hemiplegic migraine	biolink:Disease	mondo	NCIT:C117011		sporadic hemiplegic migraine	http://purl.obolibrary.org/obo/MONDO_0020757	A migraine disorder characterized by an aura that includes motor weakness and the absence of family history.	NCIT:C117011
MONDO:0019779	Renier-Gabreels-Jasper syndrome	biolink:Disease	mondo	Orphanet:93975|UMLS:CN206720|GARD:0004672|SCTID:723501008	gard_rare|ordo_malformation_syndrome	Renier Gabreels Jasper syndrome	http://purl.obolibrary.org/obo/MONDO_0019779	Renier-Gabreels-Jasper syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).	ORPHA:93975|SNOMEDCT:723501008|UMLS:CN206720
MONDO:0017116	congenital communicating hydrocephalus	biolink:Disease	mondo	Orphanet:269505|ICD10:Q03.8	ordo_clinical_subtype	congenital non-obstructive hydrocephalus	http://purl.obolibrary.org/obo/MONDO_0017116		ORPHA:269505
MONDO:0020756	migraine, familial hemiplegic, 1	biolink:Disease	mondo	DOID:0111181|OMIM:141500|GARD:0002638	gard_rare	migraine, familial hemiplegic, 1; FHM1|migraine, familial hemiplegic, 1|familial hemiplegic migraine type 1|migraine, familial hemiplegic 1, with progressive cerebellar ataxia|migraine, sporadic hemiplegic|migraine, familial hemiplegic, type 1|FHM1|hemiplegic migraine, familial type 1|MHP1	http://purl.obolibrary.org/obo/MONDO_0020756		http://identifiers.org/omim/141500|DOID:0111181
MONDO:0019778	Smith-Fineman-Myers syndrome	biolink:Disease	mondo	Orphanet:93974|GARD:0003521|SCTID:719212004|MESH:C537445|UMLS:C0796159	ordo_malformation_syndrome	Smith Fineman Myers syndrome|mental retardation Smith Fineman Myers type|intellectual disability Smith Fineman Myers type	http://purl.obolibrary.org/obo/MONDO_0019778	Smith-Fineman-Myers syndrome (SFMS) is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).	UMLS:C0796159|ORPHA:93974|MESH:C537445|SNOMEDCT:719212004
MONDO:0017117	congenital non-communicating hydrocephalus	biolink:Disease	mondo	ICD10:Q03.2|ICD10:Q03.1|SCTID:762295002|ICD10:Q03.8|Orphanet:269510	ordo_clinical_subtype	congenital obstructive hydrocephalus	http://purl.obolibrary.org/obo/MONDO_0017117		ORPHA:269510|SNOMEDCT:762295002
MONDO:0020755	heart block	biolink:Disease	mondo	SCTID:233916004			http://purl.obolibrary.org/obo/MONDO_0020755		SNOMEDCT:233916004
MONDO:0017118	syndrome with a cerebellar malformation as major feature	biolink:Disease	mondo	UMLS:CN202468|Orphanet:269523	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017118		ORPHA:269523|UMLS:CN202468
MONDO:0020754	visceral myopathy	biolink:Disease	mondo	OMIM:155310		visceral myopathy; VSCM|infantile visceral myopathy|megaduodenum and/or megacystis|pseudoobstruction, idiopathic intestinal	http://purl.obolibrary.org/obo/MONDO_0020754		http://identifiers.org/omim/155310
MONDO:0017119	syndrome with microcephaly as major feature	biolink:Disease	mondo	Orphanet:269528|UMLS:CN202469	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017119		UMLS:CN202469|ORPHA:269528
MONDO:0019775	Chudley-Lowry-Hoar syndrome	biolink:Disease	mondo	GARD:0001357|UMLS:CN206716|Orphanet:93971|SCTID:717763008	ordo_malformation_syndrome	intellectual disability-hypotonic facies syndrome X-linked, 1|Chudley-Lowry syndrome|SFM1|Chudley intellectual disability syndrome|Chudley mental retardation syndrome|Chudley syndrome 1|Smith Fineman Myers syndrome 1|mental retardation-hypotonic facies syndrome X-linked, 1|Chudley Lowry Hoar syndrome	http://purl.obolibrary.org/obo/MONDO_0019775	Chudley-Lowry syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation-hypotonic facies).	SNOMEDCT:717763008|ORPHA:93971|UMLS:CN206716
NCBITaxon:2499403	Tornidovirineae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2499403		
MONDO:0017112	isolated unilateral hemispheric cerebellar hypoplasia	biolink:Disease	mondo	SCTID:766934006|Orphanet:269218|ICD10:Q04.3	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0017112	Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal.	ORPHA:269218|SNOMEDCT:766934006
MONDO:0019774	Holmes-Gang syndrome	biolink:Disease	mondo	ICD10:Q87.0|UMLS:CN206715|Orphanet:93970	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0019774	Holmes-Gang syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).	ORPHA:93970|UMLS:CN206715
MONDO:0017113	isolated bilateral hemispheric cerebellar hypoplasia	biolink:Disease	mondo	ICD10:Q04.3|Orphanet:269221	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0017113	Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression.	ORPHA:269221
MONDO:0019777	Carpenter-Waziri syndrome	biolink:Disease	mondo	UMLS:CN206718|Orphanet:93973	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0019777	Carpenter-Waziri syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).	ORPHA:93973|UMLS:CN206718
MONDO:0017114	global cerebellar malformation	biolink:Disease	mondo	ICD10:Q04.3|Orphanet:269224	ordo_group_of_disorders	diffuse cerebellar malformation	http://purl.obolibrary.org/obo/MONDO_0017114		ORPHA:269224
MONDO:0019776	Juberg-Marsidi syndrome	biolink:Disease	mondo	Orphanet:93972|SCTID:721875000	ordo_malformation_syndrome	juberg Marsidi syndrome	http://purl.obolibrary.org/obo/MONDO_0019776	Juberg-Marsidi syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).	UMLS:C0796003|ORPHA:93972|SNOMEDCT:721875000|MESH:C537457
MONDO:0017115	obsolete bifid nose	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0017115		
MONDO:0019771	oromandibular dystonia	biolink:Disease	mondo	DOID:0050843|Orphanet:93958|ICD10:G24.4|UMLS:C0393607	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019771	Oromandibular dystonia (OMD) is a form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles.	DOID:0050843|UMLS:C0393607|ORPHA:93958
MONDO:0019770	X-linked dominant intellectual disability-epilepsy syndrome	biolink:Disease	mondo	Orphanet:93951|UMLS:CN227687	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019770		UMLS:CN227687|ORPHA:93951
PATO:0002062	physical quality of a process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0002062		
MONDO:0019773	myelomeningocele	biolink:Disease	mondo	ICD10:Q05.5|EFO:1001369|ICD10:Q05.4|DOID:0060326|ICD10:Q05.3|ICD10:Q05.2|HP:0002475|ICD10:Q05.1|ICD10:Q05.0|MESH:D008591|ICD10:Q05|GARD:0003475|Orphanet:93969|ICD10:Q05.9|SCTID:414667000|ICD10:Q05.8|ICD10:Q05.7|ICD10:Q05.6	gard_rare|ordo_morphological_anomaly	meningomyelocele	http://purl.obolibrary.org/obo/MONDO_0019773	Myelomeningocele is the most severe form of spina bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus). This happens because fluid that protects the brain and spinal cord is unable to drain like it should. The fluid builds up, causing pressure and swelling. Without treatment, a persons head grows too big, and theymay have brain damage. Other disorders of the spinal cord may be seen, including syringomyelia and hip dislocation. The cause of myelomeningocele is unknown. However, low levels of folic acid in a woman's body before and during early pregnancy is thought to play a part in this type of birth defect.	ORPHA:93969|SNOMEDCT:414667000|MESH:D008591|DOID:0060326
MONDO:0017110	isolated Dandy-Walker malformation with hydrocephalus	biolink:Disease	mondo	ICD10:Q03.1|Orphanet:269212	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017110		ORPHA:269212
MONDO:0019772	blepharospasm-oromandibular dystonia syndrome	biolink:Disease	mondo	Orphanet:93964|GARD:0007008|ICD10:G24.8|DOID:3982|SCTID:230325003|MESH:D008538	ordo_disease	Brueghel syndrome|segmental cranial dystonia|Meige's syndrome|blepharospasm - oromandibular dystonia|idiopathic blepharospasm-oromandibular dystonia syndrome|blepharospasm-oromandibular dystonia|oral facial dystonia|Meige syndrome|Meige dystonia	http://purl.obolibrary.org/obo/MONDO_0019772	Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia.	SNOMEDCT:230325003|MESH:D008538|DOID:3982|ORPHA:93964
MONDO:0017111	isolated Dandy-Walker malformation without hydrocephalus	biolink:Disease	mondo	Orphanet:269215|ICD10:Q03.1	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017111		ORPHA:269215
MONDO:0005138	lung carcinoma	biolink:Disease	mondo	DOID:3905|EFO:0001071|ICD10:C34.90|UMLS:C0684249|NCIT:C4878		lung cancer|cancer of the lung|lung carcinoma|carcinoma of the lung|cancer of lung|carcinoma of lung|lung cancer, NOS	http://purl.obolibrary.org/obo/MONDO_0005138	A carcinoma that arises from epithelial cells of the lung	NCIT:C4878|UMLS:C0684249|DOID:3905
MONDO:0005137	nutritional disorder	biolink:Disease	mondo	UMLS:C3714509|MESH:D009748|NCIT:C26836|EFO:0001069|SCTID:2492009|ICD9:783.9|DOID:374		nutritional disorder|nutrition disease	http://purl.obolibrary.org/obo/MONDO_0005137	Any condition related to a disturbance between proper intake and utilization of nourishment.	NCIT:C26836|UMLS:C3714509|DOID:374|MESH:D009748|SNOMEDCT:2492009
MONDO:0007799	hypophosphatemic bone disease	biolink:Disease	mondo	MESH:C564145|OMIM:146350|UMLS:C1840321		hypophosphatemic bone disease|HBD|hypophosphatemic bone disease; HBD	http://purl.obolibrary.org/obo/MONDO_0007799		MESH:C564145|http://identifiers.org/omim/146350|UMLS:C1840321
MONDO:0005139	morbid obesity	biolink:Disease	mondo	MESH:D009767|DOID:11981|NIFSTD:nlx_dys_20090303|ICD9:278.01|UMLS:C0028756|SCTID:83911000119104|COHD:434005|EFO:0001074		severe obesity	http://purl.obolibrary.org/obo/MONDO_0005139	An excess of body weight, normally defined as an individual with a body mass index greater than 35 or a body weight greater than one hundred percent of ideal body weight.	DOID:11981|UMLS:C0028756|MESH:D009767|NCIT:C34858|SNOMEDCT:83911000119104
MONDO:0007797	hypoparathyroidism-deafness-renal disease syndrome	biolink:Disease	mondo	DOID:0060878|Orphanet:2237|SCTID:724282009|ICD10:Q87.8|OMIM:146255|GARD:0002911|UMLS:C1840333|NCIT:C130983|MESH:C537907	ordo_malformation_syndrome	hypoparathyroidism, sensorineural deafness, and renal disease|hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome|nephrosis, nerve deafness, and hypoparathyroidism|hypoparathyroidism, deafness, and renal anomalies syndrome|Barakat syndrome|HDR|hypoparathyroidism, sensorineural deafness, and renal disease; HDR|HDR syndrome|hypoparathyroidism, sensorineural deafness, and renal dysplasia	http://purl.obolibrary.org/obo/MONDO_0007797	The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease.	ORPHA:2237|MESH:C537907|http://identifiers.org/omim/146255|UMLS:C1840333|DOID:0060878|NCIT:C130983|SNOMEDCT:724282009
MONDO:0020753	Orthocoronavirinae infectious disease	biolink:Disease	mondo	DOID:0080599		coronavirus infectious disease	http://purl.obolibrary.org/obo/MONDO_0020753	Infectious disease causes by viruses in the subfamily Orthocoronavirinae (coronaviruses). In humans, coronaviruses cause respiratory tract infections that can be mild, such as some cases of the common cold (among other possible causes, predominantly rhinoviruses), and others that can be lethal, such as SARS, MERS, and COVID-19.	DOID:0080599
MONDO:0005134	experimental autoimmune encephalomyelitis	biolink:Disease	mondo	MESH:D004681|EFO:0001066			http://purl.obolibrary.org/obo/MONDO_0005134	An autoimmune demyelinating disease of the central nervous system that is produced experimentally in animals by the injection of homogenized brain or spinal cord in Freund's adjuvant. Myelin basic protein appears to be the antigen that elicits the hypersensitivity immune response which is characterized by focal areas of lymphocyte and macrophage infiltration into the brain, associated with demyelination and destruction of the blood-brain barrier. Experimental allergic encephalomyelitis (EAE) is used as an animal model for demyelinating diseases of the human central nervous system such as multiple sclerosis.	NCIT:C3006|MESH:D004681
MONDO:0020752	EJM1	biolink:Disease	mondo	OMIM:254770	predisposition		http://purl.obolibrary.org/obo/MONDO_0020752		http://identifiers.org/omim/254770
MONDO:0007798	adult hypophosphatasia	biolink:Disease	mondo	Orphanet:247676|DOID:0110913|SCTID:20756002|OMIM:146300|ICD10:E83.3|UMLS:C0268413	ordo_clinical_subtype	odontohypophosphatasia|adult Rathburn disease|adult phosphoethanolaminuria|hypophosphatasia of adults|hypophosphatasia, mild|hypophosphatasia, ADULT|mild hypophosphatasia	http://purl.obolibrary.org/obo/MONDO_0007798	Adult hypophosphatasia (A-HPP) is a mildform of hypophosphatasia characterized by osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures duringmiddle age, and dental anomalies.	UMLS:C0268413|SNOMEDCT:20756002|http://identifiers.org/omim/146300|DOID:0110913|ORPHA:247676
MONDO:0005133	endometriosis (disease)	biolink:Disease	mondo	ICD9:617.8|SCTID:129103003|ICD9:617.9|ICD10:N80.9|COHD:433527|HP:0030127|MESH:D004715|ICD9:617|ICD10:N80|NCIT:C3014|EFO:0001065|DOID:289		endometriosis	http://purl.obolibrary.org/obo/MONDO_0005133	The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs.	DOID:289|SNOMEDCT:129103003|NCIT:C3014|MESH:D004715
MONDO:0005136	malaria	biolink:Disease	mondo	ICD10:B50.8|ICD10:B53.0|NCIT:C34797|COHD:438067|ICD10:B53.1|ICD10:B52.0|MedDRA:10025487|ICD10:B51.0|ICD10:B50.0|UMLS:C0024530|SCTID:61462000|ICD9:084.6|ICD10:B53|DOID:12365|EFO:0001068|ICD10:B54|ICD9:084|ICD10:B52.9|GARD:0006961|ICD10:B53.8|Orphanet:673|ICD10:B52.8|ICD10:B51.9|ICD10:B50.9|ICD10:B51.8|MESH:D008288	gard_rare|ordo_disease	induced malaria|plasmodiosis	http://purl.obolibrary.org/obo/MONDO_0005136	Malaria is a serious and sometimes fatal disease caused by a parasite that commonly infects a certain type of mosquito which feeds on humans. Infection with malaria parasites may result in a wide variety of symptoms, ranging from absent or very mild symptoms to severe disease and even death. People who get malaria are typically very sick with high fevers, shaking chills, and flu-like illness. In general, malaria is a curable disease if diagnosed and treated promptly and correctly.Treatment depends on many factors including disease severity, the species of malaria parasite causing the infection and the part of the world in which the infection was acquired.	MEDDRA:10025487|SNOMEDCT:61462000|MESH:D008288|ORPHA:673|NCIT:C34797|UMLS:C0024530|DOID:12365
MONDO:0007795	mullerian duct anomalies-limb anomalies syndrome	biolink:Disease	mondo	ICD10:Q87.8|UMLS:C1840335|OMIM:146160|GARD:0002908|MESH:C537155|Orphanet:2491	ordo_malformation_syndrome	hypomelia mullerian duct anomalies|severe upper limb hypoplasia and Mullerian duct anomalies|Müllerian duct anomalies-limb anomalies syndrome|limb-uterus syndrome|hypomelia with mullerian duct anomalies|limb uterus syndrome	http://purl.obolibrary.org/obo/MONDO_0007795	Mullerian duct anomalies-limb anomalies syndrome is characterised by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant.	ORPHA:2491|MESH:C537155|http://identifiers.org/omim/146160|UMLS:C1840335
MONDO:0020751	orthostatic hypotension 2	biolink:Disease	mondo	OMIM:618182			http://purl.obolibrary.org/obo/MONDO_0020751		http://identifiers.org/omim/618182
MONDO:0005135	parasitic infection	biolink:Disease	mondo	NCIT:C27864|ICD10:H44.12|SCTID:17322007|MESH:D010272|DOID:1398|ICD9:134.9|ICD9:136.9|EFO:0001067|ICD9:360.13|ICD9:136.8|ICD9:136.4|ICD9:134.8|ICD9:129|ICD9:376.13		parasitic infectious disease|parasitic infection|diseases, parasitic|parasite infestation|parasitemia|parasitism|disease, parasitic|disease caused by parasite|ectoparasitic disease|parasitic disease|infestation|parasitosis	http://purl.obolibrary.org/obo/MONDO_0005135	A successful invasion of a host by an organism that uses the host for food and shelter.	MESH:D010272|SNOMEDCT:17322007|DOID:1398|NCIT:C27864
MONDO:0007796	hypoparathyroidism, familial isolated 1	biolink:Disease	mondo	OMIM:146200|SCTID:237657009	gard_rare	hypoparathyroidism, familial isolated|hypoparathyroidism familial isolated|hypoparathyroidism, autosomal dominant|hypoparathyroidism, familial isolated 1; FIH1|hypoparathyroidism, familial isolated; FIH|hypoparathyroidism, autosomal recessive|FIH1	http://purl.obolibrary.org/obo/MONDO_0007796		SNOMEDCT:237657009|http://identifiers.org/omim/146200
MONDO:0020750	polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2	biolink:Disease	mondo	OMIM:618193			http://purl.obolibrary.org/obo/MONDO_0020750		http://identifiers.org/omim/618193
MONDO:0005130	celiac disease	biolink:Disease	mondo	GARD:0011998|COHD:194992|DOID:10608|EFO:0001060|OMIMPS:212750|ICD9:579.0|MESH:D002446|SCTID:396331005|NCIT:C26714|ICD10:K90.0|UMLS:C0007570		non tropical sprue|idiopathic steatorrhea|gluten-induced enteropathy|coeliac disease|celiac sprue	http://purl.obolibrary.org/obo/MONDO_0005130	An autoimmune genetic disorder with an unknown pattern of inheritance that primarily affects the digestive tract. It is caused by intolerance to dietary gluten. Consumption of gluten protein triggers an immune response which damages small intestinal villi and prevents adequate absorption of nutrients. Clinical signs include abdominal cramping, diarrhea or constipation and weight loss. If untreated, the clinical course may progress to malnutrition, anemia, osteoporosis and an increased risk of intestinal malignancies. However, the prognosis is favorable with successful avoidance of gluten in the diet.	MESH:D002446|UMLS:C0007570|SNOMEDCT:396331005|NCIT:C26714|DOID:10608
MONDO:0007793	hypochondroplasia	biolink:Disease	mondo	SCTID:205468002|OMIM:146000|ICD9:756.9|GARD:0006724|UMLS:C0410529|NCIT:C118697|ICD10:Q77.4|Orphanet:429|MESH:C562937|MedDRA:10020967|DOID:0080041	ordo_disease|gard_rare	HCH|hypochondroplasia; HCH|hypochondroplasia	http://purl.obolibrary.org/obo/MONDO_0007793	Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.	NCIT:C118697|DOID:0080041|UMLS:C0410529|ORPHA:429|http://identifiers.org/omim/146000|MEDDRA:10020967|SNOMEDCT:205468002|MESH:C562937
MONDO:0007794	hypogonadotropic hypogonadism 7 with or without anosmia	biolink:Disease	mondo	DOID:0090078|SCTID:123953004|ICD10:E23.0|ICD9:253.4|OMIM:146110		idiopathic hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 7 with or without anosmia|hypogonadism, isolated hypogonadotropic|hypogonadotropic hypogonadism 7 with or without anosmia; HH7|HH7	http://purl.obolibrary.org/obo/MONDO_0007794	A hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported.	DOID:0090078|http://identifiers.org/omim/146110|SNOMEDCT:123953004
MONDO:0005132	cytomegalovirus infection	biolink:Disease	mondo	ICD9:078.5|MESH:D003586|NCIT:C53649|COHD:440032|SCTID:28944009|EFO:0001062|UMLS:C0010823		Cytomegaloviral infection|HCMV infection|CMV infection	http://purl.obolibrary.org/obo/MONDO_0005132	A herpesvirus infection caused by Cytomegalovirus. Healthy individuals generally do not produce symptoms. However, the infection may be life-threatening in affected immunocompromised patients. The virus may cause retinitis, esophagitis, gastritis, and colitis. Morphologically, it is characterized by the presence of intranuclear inclusion bodies.	NCIT:C53649|SNOMEDCT:28944009|UMLS:C0010823|NCIT:C112314|MESH:D003586
MONDO:0007791	familial hypocalciuric hypercalcemia 1	biolink:Disease	mondo	Orphanet:93372|SCTID:704166007|MESH:C537145|OMIM:145980|MedDRA:10068704|GARD:0002796|ICD10:E83.5|DOID:0060700	ordo_etiological_subtype	Fhh1|hypocalciuric hypercalcemia, familial, type 1|familial hypocalciuric hypercalcemia type I|hypocalciuric hypercalcemia type I|hypocalciuric hypercalcemia, familial, type I; HHC1|FBH1|familial benign hypercalcemia type 1|CASR familial hypocalciuric hypercalcemia|familial hypocalciuric hypercalcemia type 1|HHC1|familial hypocalciuric hypercalcemia caused by mutation in CASR|FHH type 1|hypercalcemia, familial benign|hypocalciuric hypercalcemia, familial, type I|familial benign hypercalcemia 1|hypocalciuric hypercalcemia, acquired|hypercalcemia, familial benign type 1	http://purl.obolibrary.org/obo/MONDO_0007791	Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the CASR gene.	MESH:C537145|DOID:0060700|SNOMEDCT:704166007|ORPHA:93372|http://identifiers.org/omim/145980|MEDDRA:10068704
MONDO:0007792	familial hypocalciuric hypercalcemia 2	biolink:Disease	mondo	MESH:C537146|ICD10:E83.5|OMIM:145981|GARD:0009758|UMLS:C1840347|Orphanet:101049|DOID:0060701	ordo_etiological_subtype	hypocalciuric hypercalcemia, familial, type II|hypocalciuric hypercalcemia, familial, type 2|FBH2|HHC2|familial hypocalciuric hypercalcemia type 2|hypocalciuric hypercalcemia, familial, type II; HHC2|familial benign hypercalcemia, type 2|hypocalciuric hypercalcemia type II|hypercalcemia, familial benign, type 2|FHH type 2|hypercalcemia, familial benign type 2	http://purl.obolibrary.org/obo/MONDO_0007792	A familial hypocalciuric hypercalcemia that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.	MESH:C537146|ORPHA:101049|UMLS:C1840347|DOID:0060701|UMLS:C2931427|http://identifiers.org/omim/145981
MONDO:0005131	cervical carcinoma	biolink:Disease	mondo	SCTID:285432005|NCIT:C9039|DOID:2893|EFO:0001061|UMLS:C0302592		carcinoma of the uterine cervix|carcinoma of uterine cervix|uterine cervix carcinoma|carcinoma of cervix|carcinoma of the cervix uteri|carcinoma cervix uteri|cancer of cervix|uterine cervix cancer|cervix uteri carcinoma|cervix cancer|cancer of cervix|cancer of the cervix|cervix carcinoma|cervical cancer, NOS|carcinoma of the cervix|cancer of uterine cervix|cervical carcinoma|carcinoma of cervix uteri|cancer of the uterine cervix|cervical cancer	http://purl.obolibrary.org/obo/MONDO_0005131	A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma.	NCIT:C9039|UMLS:C0302592|DOID:2893|SNOMEDCT:285432005
HP:0002069	Bilateral tonic-clonic seizure	biolink:PhenotypicFeature	mondo	MSH:D012640|UMLS:C0494475|SNOMEDCT_US:54200006		Bilateral convulsive seizures|Tonic-clonic convulsion|Generalised tonic-clonic seizure (without specification of onset)|Generalized convulsion|Seizures, tonic-clonic|Grand mal|Tonic-clonic convulsions|Generalized tonic-clonic seizure (without specification of onset)|Grand mal seizures	http://purl.obolibrary.org/obo/HP_0002069	A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.	
MONDO:0017109	isolated partial cerebellar vermis agenesis	biolink:Disease	mondo	ICD10:Q04.3|Orphanet:269209	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017109		ORPHA:269209
MONDO:0007790	Charcot-Marie-Tooth disease type 3	biolink:Disease	mondo	NCIT:C133087|ICD10:G60.0|SCTID:111499002|DOID:0050540|OMIM:145900|UMLS:C0011195|Orphanet:64748|GARD:0009204	ordo_disease	Charcot-Marie-Tooth disease, type 3|HMSN III|Dejerine-Sottas syndrome|Charcot-Marie-Tooth disease type 3|Dejerine-Sottas neuropathy|HMSN 3|CMT3|hypertrophic neuropathy of Dejerine-Sottas|hereditary motor and sensory neuropathy type 3|hypertrophic neuropathy of infancy|hereditary motor and sensory neuropathy 3|hereditary motor and sensory neuropathy type III|HMSN3|DSN	http://purl.obolibrary.org/obo/MONDO_0007790		UMLS:C0011195|DOID:0050540|ORPHA:64748|http://identifiers.org/omim/145900|SNOMEDCT:111499002|MESH:C538392|NCIT:C133087
FOODON:00001046	seafood product	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00001046	A seafood product is a vertebrate or invertibrate organism from an aquatic environment.	
MONDO:0020749	polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	biolink:Disease	mondo	OMIM:221770			http://purl.obolibrary.org/obo/MONDO_0020749		http://identifiers.org/omim/221770
MONDO:0020748	sitosterolemia 2	biolink:Disease	mondo	OMIM:618666		STSL2	http://purl.obolibrary.org/obo/MONDO_0020748		http://identifiers.org/omim/618666
MONDO:0020747	sitosterolemia 1	biolink:Disease	mondo	OMIM:210250		STSL1	http://purl.obolibrary.org/obo/MONDO_0020747		http://identifiers.org/omim/210250
MONDO:0019768	X-linked intellectual disability, Golabi-Ito-hall type	biolink:Disease	mondo	Orphanet:93947|UMLS:CN206703	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0019768	Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.	ORPHA:93947|UMLS:CN206703
MONDO:0020746	contractures, pterygia, and variable skeletal fusions syndrome 1B	biolink:Disease	mondo	OMIM:618469			http://purl.obolibrary.org/obo/MONDO_0020746		http://identifiers.org/omim/618469
MONDO:0017105	glioependymal/ependymal cyst	biolink:Disease	mondo	Orphanet:269197	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0017105	Glioependymal/ependymal cyst is a rare central nervous system malformation defined as a subarachnoid, supratentorial, interventricular or intraspinal, sometimes intracerebral or intramedullar cyst with an internal ependymal lining, possibly surrounded by glial tissue. It may be an incidental finding or may present at different ages with clinical features depending on its size and location. It may distort adjacent brain structures and cause macrocephaly, ventriculomegaly, hydrocephalus, focal neurological signs and other signs and symptoms. In some cases, it is associated with other cerebral malformations (e.g. corpus callosum agenesis, polymicrogyria, heterotopias).	ORPHA:269197
MONDO:0017106	retrocerebellar cyst (disease)	biolink:Disease	mondo	Orphanet:269200|HP:0006951	ordo_morphological_anomaly	Retrocerebellar cyst|Retrocerebellar arachnoid cyst	http://purl.obolibrary.org/obo/MONDO_0017106		ORPHA:269200
MONDO:0019767	hamel cerebro-palato-cardiac syndrome	biolink:Disease	mondo	Orphanet:93946|UMLS:CN206702	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0019767	Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.	ORPHA:93946|UMLS:CN206702
MONDO:0020745	autosomal dominant cardiac arrhythmia (Kuhn)	biolink:Disease	mondo	OMIM:115000	n_of_one	cardiac arrhythmia|extrasystoles	http://purl.obolibrary.org/obo/MONDO_0020745		http://identifiers.org/omim/115000
MONDO:0020744	Mobitz type I atrioventricular block	biolink:Disease	mondo	NCIT:C62017		second degree atrioventricular block Mobitz type I|type 1 second degree AV block|Möbitz I|AV block second degree Mobitz type I|Wenckebach block|Möbitz type I second degree AV block|second degree atrioventricular block Möbitz type I|type 1 2nd degree AV block|Mobitz I|AV block second degree Möbitz type I|Mobitz type I second degree AV block|type 1 second degree atrioventricular block|Mobitz type I	http://purl.obolibrary.org/obo/MONDO_0020744	A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a progressively lengthening PR interval prior to the block of an atrial impulse. (CDISC)	NCIT:C62017
MONDO:0017107	isolated cerebellar vermis agenesis	biolink:Disease	mondo	ICD10:Q04.3|Orphanet:269203	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0017107		ORPHA:269203
MONDO:0020743	mixed phenotype acute leukemia	biolink:Disease	mondo	Orphanet:530995|MedDRA:10067399|ICD10:C95.0|NCIT:C82179	ordo_disease	mixed phenotype acute leukemia|MPAL	http://purl.obolibrary.org/obo/MONDO_0020743	An acute leukemia of ambiguous lineage. It is characterized by the presence of either separate populations of blasts of more than one lineage, or one population of blasts co-expressing markers of more than one lineage.	ORPHA:530995|NCIT:C82179
MONDO:0019769	X-linked intellectual disability, Sutherland-Haan type	biolink:Disease	mondo	UMLS:CN206704|Orphanet:93950	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0019769		ORPHA:93950|UMLS:CN206704
MONDO:0017108	isolated total cerebellar vermis agenesis	biolink:Disease	mondo	Orphanet:269206|ICD10:Q04.3	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017108		ORPHA:269206
MONDO:0017101	isolated focal cortical dysplasia type IIa	biolink:Disease	mondo	ICD10:Q04.8|Orphanet:269001	ordo_histopathological_subtype	FCD type IIa	http://purl.obolibrary.org/obo/MONDO_0017101		ORPHA:269001
MONDO:0019764	laryngotracheoesophageal cleft type 4	biolink:Disease	mondo	Orphanet:93941|ICD10:Q32.1|UMLS:CN206699	ordo_clinical_subtype	LTEC4|LTEC IV|laryngo-tracheo-esophageal cleft type 4	http://purl.obolibrary.org/obo/MONDO_0019764	Laryngo-tracheo-esophageal cleft (LC) type 4 is a serious congenital respiratory tract anomaly characterized by a cleft extending into the thoracic trachea and possibly down to the carina, with respiratory distress.	ORPHA:93941|UMLS:CN206699
MONDO:0017102	isolated focal cortical dysplasia type IIb	biolink:Disease	mondo	ICD10:Q04.8|Orphanet:269008|UMLS:CN202460	ordo_histopathological_subtype	FCD type IIb	http://purl.obolibrary.org/obo/MONDO_0017102		ORPHA:269008|UMLS:CN202460
MONDO:0019763	laryngotracheoesophageal cleft type 3	biolink:Disease	mondo	ICD10:Q32.1|Orphanet:93940|UMLS:CN206698	ordo_clinical_subtype	LTEC3|laryngo-tracheo-esophageal cleft type 3|LTEC III	http://purl.obolibrary.org/obo/MONDO_0019763	Laryngo-tracheo-esophageal cleft (LC) type 3 is a congenital respiratory tract anomaly characterized by a cleft extending through the cricoid cartilage, sometimes into the cervical trachea, with severe swallowing disorders, lung infections and pulmonary damage.	ORPHA:93940|UMLS:CN206698
MONDO:0019766	X-linked intellectual disability, Porteous type	biolink:Disease	mondo	Orphanet:93945|UMLS:CN206701	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0019766		ORPHA:93945|UMLS:CN206701
MONDO:0017103	encephaloclastic disorder	biolink:Disease	mondo	UMLS:CN227080|Orphanet:269190	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017103		ORPHA:269190|UMLS:CN227080
HP:0002060	Abnormal cerebral morphology	biolink:PhenotypicFeature	mondo	UMLS:C4021762		Abnormality of the cerebrum|Abnormality of the telencephalon	http://purl.obolibrary.org/obo/HP_0002060	Any structural abnormality of the telencephalon, which is also known as the cerebrum.	
MONDO:0019765	Celosomia	biolink:Disease	mondo	ICD10:Q76.7|Orphanet:93942|SCTID:44518003|ICD9:759.89	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0019765		SNOMEDCT:44518003|ORPHA:93942
MONDO:0017104	central nervous system cystic malformation	biolink:Disease	mondo	Orphanet:269194	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017104		ORPHA:269194
MONDO:0019760	terminal transverse defects of arm	biolink:Disease	mondo	ICD10:Q79.8|UMLS:C1857578|Orphanet:93937	ordo_morphological_anomaly	congenital limb amputation	http://purl.obolibrary.org/obo/MONDO_0019760		ORPHA:93937|UMLS:C1857578
PATO:0002072	decreased affinity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0002072	An affinity which is relatively low.	
NCBITaxon:2499411	Articulavirales	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2499411		
HP:0002066	Gait ataxia	biolink:PhenotypicFeature	mondo	MSH:D020234|UMLS:C0751837|SNOMEDCT_US:25136009		Inability to coordinate movements when walking|Ataxic gait|Ataxia of gait	http://purl.obolibrary.org/obo/HP_0002066	A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.	
NCBITaxon:32594	Babesiidae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_32594		
MONDO:0019762	laryngotracheoesophageal cleft type 2	biolink:Disease	mondo	ICD10:Q32.1|Orphanet:93939|UMLS:CN206697	ordo_clinical_subtype	laryngo-tracheo-esophageal cleft type 2|LTEC II|LTEC2	http://purl.obolibrary.org/obo/MONDO_0019762	Laryngo-tracheo-esophageal cleft (LC) type 2 is a congenital respiratory tract anomaly characterized by a cleft extending below the vocal folds into the cricoid cartilage, with swallowing disorders and lung infections.	ORPHA:93939|UMLS:CN206697
HP:0002063	Rigidity	biolink:PhenotypicFeature	mondo	MSH:D009127|UMLS:C0026837|SNOMEDCT_US:16046003		Rigidity|Muscle rigidity	http://purl.obolibrary.org/obo/HP_0002063	Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.	
PATO:0002070	affinity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0002070	A molecular quality that arises from the molecular attraction exerted between two atoms or compounds.	
MONDO:0017100	neutropenia-monocytopenia-deafness syndrome	biolink:Disease	mondo	UMLS:CN202458|ICD10:D82.8|Orphanet:2690	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017100	Neutropenia-monocytopenia-deafness syndrome is characterised by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections.	UMLS:CN202458|ORPHA:2690
MONDO:0019761	laryngotracheoesophageal cleft type 1	biolink:Disease	mondo	ICD10:Q32.1|Orphanet:93938|UMLS:CN206696	ordo_clinical_subtype	LTEC1|laryngo-tracheo-esophageal cleft type 1|LTEC I	http://purl.obolibrary.org/obo/MONDO_0019761	Laryngo-tracheo-esophageal cleft (LC) type 1 is a congenital respiratory tract anomaly characterized by a supraglottic, interarytenoid cleft above the vocal folds with moderate respiratory symptoms.	ORPHA:93938|UMLS:CN206696
PATO:0002071	increased affinity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0002071	An affinity which is relatively high.	
MONDO:0005109	HIV infectious disease	biolink:Disease	mondo	UMLS:C0019693|SCTID:86406008|ICD10:B20|ICD9:042-042.99|DOID:526|NCIT:C3108|EFO:0000764|ICD9:042|MESH:D015658|ICD10:B20-B20|ICD10:B20.B24		Human immunodeficiency virus caused disease or disorder|HIV infection|human immunodeficiency virus infectious disease|Human immunodeficiency virus infectious disease|Human immunodeficiency virus disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005109	An infection caused by the human immunodeficiency virus.	UMLS:C0019693|SNOMEDCT:86406008|NCIT:C3108|MESH:D015658|DOID:526
MONDO:0005108	viral infectious disease	biolink:Disease	mondo	ICD9:066.9|MESH:D014777|ICD10:B34.9|ICD9:060-066.99|ICD10:A94|DOID:934|ICD9:079.99|ICD9:078.89|COHD:440029|EFO:0000763|SCTID:34014006|NCIT:C3439|ICD10:B34		Viruses infectious disease|Viruses caused disease or disorder|viral disorder|infections, Viruses|viral disease|infection, viral|Viruses disease or disorder|Viruses infection|virus infection|viral infection	http://purl.obolibrary.org/obo/MONDO_0005108	Any disease caused by a virus.	NCIT:C3439|MESH:D014777|SNOMEDCT:34014006|DOID:934
MONDO:0007768	hyperparathyroidism-jaw tumor syndrome	biolink:Disease	mondo	SCTID:702378002|OMIM:145001|ICD10:E21.0|NCIT:C48287|Orphanet:99880|UMLS:C1704981|GARD:0010829	ordo_disease|gard_rare	hyperparathyroidism-jaw tumor syndrome|hyperparathyroidism 2 with jaw tumors|hyperparathyroidism type 2|parathyroid adenomatosis, familial cystic|hyperparathyroidism-2|hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas|hyperparathyroidism 2 with jaw tumors; HRPT2|hyperparathyroidism 2; HRPT2|hyperparathyroidism-jaw tumor syndrome, hereditary|hereditary hyperparathyroidism-jaw tumor syndrome|hyperparathyroidism 2|HPT-JT|HRPT2|familial primary hyperparathyroidism with multiple ossifying jaw fibromas	http://purl.obolibrary.org/obo/MONDO_0007768	An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts.	http://identifiers.org/omim/145001|UMLS:C1704981|NCIT:C48287|ORPHA:99880|SNOMEDCT:702378002
MONDO:0005105	melanoma (disease)	biolink:Disease	mondo	MESH:D008545|DOID:1909|EFO:0000756|UMLS:C0025202|HP:0002861|KEGG:05218|UMLS:CN971653|NCIT:C3224|ICDO:8720/3|SCTID:372244006|ONCOTREE:MEL		melanoma|malignant melanoma|Naevocarcinoma|melanoma, malignant	http://purl.obolibrary.org/obo/MONDO_0005105	A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain.	DOID:1909|NCIT:C3224|UMLS:CN971653|SNOMEDCT:372244006|UMLS:C0025202|MESH:D008545
MONDO:0007769	hyperpigmentation of eyelid	biolink:Disease	mondo	EFO:1000711|DOID:10122|UMLS:C0155211|ICD10:H02.71|SCTID:41115008|MESH:C562400|OMIM:145100|COHD:440112|ICD9:374.52		dyspigmentation of eyelid|hyperpigmentation of eyelids	http://purl.obolibrary.org/obo/MONDO_0007769	Over-production of pigment in the eyelid.	UMLS:C0155211|SNOMEDCT:41115008|http://identifiers.org/omim/145100|DOID:10122|MESH:C562400
MONDO:0005104	aJCC grade 1 sarcoma	biolink:Disease	mondo	EFO:0000737|UMLS:C1332066|NCIT:C9419		aJCC grade 1 sarcoma|well differentiated sarcoma|aJCC G1 sarcoma|aJCC grade I sarcoma	http://purl.obolibrary.org/obo/MONDO_0005104	Cancer cells are given a score of 1 to 3, with 1 being assigned when they look similar to normal cells and 3 being used when the cancer cells look very abnormal. Certain types of sarcoma are given a higher score automatically. See also NCIt:C9419 (Synonym of AJCC G1 Sarcoma)	UMLS:C1332066|NCIT:C9419
MONDO:0007766	Morgagni-Stewart-Morel syndrome	biolink:Disease	mondo	ICD10:M85.2|NCIT:C84772|SCTID:82054006|MESH:D006957|Orphanet:77296|GARD:0008593|OMIM:144800	ordo_malformation_syndrome|gard_rare	hyperostosis frontalis interna, obesity, shortness and cognitive impairment|MSM syndrome|Morgagni-Stewart-Morel syndrome|hyperostosis frontalis interna	http://purl.obolibrary.org/obo/MONDO_0007766	Morgagni-Stewart-Morel syndrome is characterised by thickening of the inner table of the frontal bone, sometimes associated with obesity and hypertrichosis. It mainly affects women over 35 years of age. The prevalence and clinical significance of hyperostosis frontalis interna is unknown. Transmission is either X-linked or autosomal dominant.	SNOMEDCT:82054006|ORPHA:77296|MESH:D006957|NCIT:C84772|http://identifiers.org/omim/144800
MONDO:0005107	obsolete hepatocellular adenoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005107		
MONDO:0005106	lipoma	biolink:Disease	mondo	SCTID:93163002|EFO:0000759|NCIT:C3192|MESH:D008067|ICD9:214.9|UMLS:C0023798|ICD9:214|ICD10:D17|ICDO:8850/0|COHD:440358|DOID:3315|ICD10:D17.9		lipomatous neoplasm (morphologic abnormality)|lipoma, benign|benign lipomatous tumor|lipomatous neoplasm|lipomatosis, familial multiple|lipoma|benign tumor of adipose tissue|multiple lipomatosis|lipomatous tumor|tumor of adipose tissue	http://purl.obolibrary.org/obo/MONDO_0005106	A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue.	UMLS:C0023798|SNOMEDCT:93163002|NCIT:C3192|MESH:D008067|DOID:3315
MONDO:0007767	hyperparathyroidism 1	biolink:Disease	mondo	UMLS:C1840402|OMIM:145000		HRPT1|hyperparathyroidism 1|hyperparathyroidism type 1|hyperparathyroidism 1; HRPT1|parathyroid adenoma, familial|hyperparathyroidism, familial isolated primary	http://purl.obolibrary.org/obo/MONDO_0007767		UMLS:C1840402|http://identifiers.org/omim/145000
MONDO:0005101	ulcerative colitis (disease)	biolink:Disease	mondo	SCTID:64766004|ICD10:K51|UMLS:C0009324|ICD9:556.5|ICD10:K51.9|ICD9:556.8|MESH:D003093|NCIT:C2952|EFO:0000729|DOID:8577|ICD9:556|HP:0100279|ICD9:556.9		ulcerative colitis|left-sided ulcerative colitis|colitis ulcerative	http://purl.obolibrary.org/obo/MONDO_0005101	An inflammatory bowel disease involving the mucosal surface of the large intestine and rectum. It may present with an acute or slow onset and follows an intermittent or continuous course. Signs and symptoms include abdominal pain, diarrhea, fever, weight loss, and intestinal hemorrhage.	MESH:D003093|DOID:8577|SNOMEDCT:64766004|UMLS:C0009324|NCIT:C2952
MONDO:0007764	autosomal dominant osteosclerosis, Worth type	biolink:Disease	mondo	OMIM:144750|GARD:0000390|Orphanet:2790|ICD10:Q78.2	ordo_malformation_syndrome	endosteal hyperostosis, Worth type|Ostéosclérose autosomique dominante type Worth|osteosclerosis, autosomal dominant|Worth syndrome|osteosclerosis, autosomal dominant, Worth type|hyperostosis corticalis generalisata, benign form of Worth with torus palatinus|endosteal hyperostosis, autosomal dominant|hyperostosis corticalis generalisata, benign form of Worth, with torus palatinus	http://purl.obolibrary.org/obo/MONDO_0007764	Worth type autosomal dominant osteosclerosis is a sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture.	UMLS:C2931308|http://identifiers.org/omim/144750|ORPHA:2790|UMLS:C0432273
MONDO:0020742	obsolete cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome	biolink:Disease	mondo	MESH:C537965|OMIM:212540|Orphanet:1317|GARD:0001060		CAMAK syndrome|cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome|cataract, microcephaly, arthrogryposis, kyphosis syndrome|cataract-microcephaly-failure to thrive-kyphoscoliosis|CAMFAK syndrome	http://purl.obolibrary.org/obo/MONDO_0020742		ORPHA:1317|MESH:C537965|http://identifiers.org/omim/212540
MONDO:0005100	systemic sclerosis	biolink:Disease	mondo	ICD10:M34.9|Orphanet:90291|MedDRA:10042953|UMLS:CN206012|ICD10:M34.8|ICD9:710.1|GARD:0009748|ICD10:M34.2|EFO:0000717|DOID:418|ICD10:M34.1|MESH:D012595|ICD10:M34.0|NCIT:C72070|SCTID:89155008|COHD:134442	ordo_disease	Scleroderma|Scleroderma, systemic|systemic scleroderma|PSS|diffuse sclerosis|SSc|progressive systemic sclerosis|systemic Scleroderma|Scleroderma (& [systemic sclerosis])|systemic sclerosis|PSS (progressive systemic sclerosis)|SSc, diffuse sclerosis|diffuse Scleroderma|Scleroderma syndrome|Scleroderma, diffuse	http://purl.obolibrary.org/obo/MONDO_0005100	A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension.	MEDDRA:10042953|ORPHA:90291|DOID:418|MESH:D012595|UMLS:CN206012|SNOMEDCT:89155008|NCIT:C72070
MONDO:0007765	hyperostosis cranialis interna (disease)	biolink:Disease	mondo	Orphanet:443098|ICD10:M85.2|HP:0005890|MESH:C564168|OMIM:144755	ordo_disease	hyperostosis cranialis interna|hyperostosis cranialis interna; HCIN|HCIN	http://purl.obolibrary.org/obo/MONDO_0007765		ORPHA:443098|http://identifiers.org/omim/144755|MESH:C564168
MONDO:0020741	pyridoxine-dependent epilepsy caused by ALDH7A1 mutant	biolink:Disease	mondo	OMIM:266100		EPD|epilepsy, pyridoxine-dependent; Epd|pyridoxine-dependent epilepsy|AASA dehydrogenase deficiency|epilepsy, pyridoxine-dependent|pyridoxine dependency with seizures	http://purl.obolibrary.org/obo/MONDO_0020741		http://identifiers.org/omim/266100
MONDO:0005103	well-differentiated liposarcoma	biolink:Disease	mondo	NCIT:C4250|Orphanet:99971|EFO:0000736|ICDO:8851/3|ICD10:C49.9|ONCOTREE:WDLS|UMLS:C1370889	ordo_histopathological_subtype	atypical lipomatous tumor|well-differentiated liposarcoma|ALT|atypical lipoma|WDLS|well differentiated liposarcoma of deep soft tissue|well differentiated liposarcoma	http://purl.obolibrary.org/obo/MONDO_0005103	A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia. It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma. These tumors do not usually metastasize unless they undergo dedifferentiation.	UMLS:C1370889|NCIT:C4250|ORPHA:99971
MONDO:0007762	hyperlipoproteinemia type V	biolink:Disease	mondo	DOID:1171|SCTID:34349009|Orphanet:70470|MESH:D006954|OMIM:144650|GARD:0006704|MedDRA:10060755|ICD10:E78.3	ordo_disease|gard_rare	hyperchylomicronemia with Hyperprebetalipoproteinemia, familial|hyperlipemia combined fat and carbohydrate-induced|hyperlipemia mixed|hyperlipemia, combined fat and carbohydrate-induced|hyperlipemia, mixed|hyperlipidemia type V|HLP type 5|hyperlipoproteinemia, type V|hyperlipoproteinemia, type 5|mixed hyperlipemia|type V hyperlipoproteinemia|familial type 5 hyperlipoproteinemia|hyperlipidemia, type 5|major hyperlipidemia|familial hyperlipoproteinemia type V|hyperchylomicronemia late onset|hyperchylomicronemia, late-onset|hyperlipoproteinemia type 5|Fredrickson type V lipaemia	http://purl.obolibrary.org/obo/MONDO_0007762	A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma chylomicrons and triglycerides contained in very-low-density lipoproteins. Type V hyperlipoproteinemia is often associated with diabetes mellitus and is not caused by reduced lipoprotein lipase activity as in hyperlipoproteinemia type I.	MEDDRA:10060755|UMLS:C0020481|http://identifiers.org/omim/144650|NCIT:C35645|ORPHA:70470|DOID:1171|SNOMEDCT:34349009|MESH:D006954
MONDO:0020740	ectodermal dysplasia and immunodeficiency 1	biolink:Disease	mondo	OMIM:300291		ectodermal dysplasia, anhidrotic, with immune deficiency 1|EDA-Id|EDAID1|HED-Id|ectodermal dysplasia, hypohidrotic, with immune deficiency 1	http://purl.obolibrary.org/obo/MONDO_0020740		http://identifiers.org/omim/300291
MONDO:0005102	undifferentiated (embryonal) sarcoma	biolink:Disease	mondo	UMLS:C0855073|ICDO:8991/3|GARD:0008650|EFO:0000730|ICDO:8805/3|NCIT:C27096		sarcoma, undifferentiated, malignant|undifferentiated (embryonal) sarcoma|embryonal sarcoma (undifferentiated sarcoma)|undifferentiated sarcoma|embryonal sarcoma|embryonal sarcoma, undifferentiated|UES	http://purl.obolibrary.org/obo/MONDO_0005102	An aggressive malignant mesenchymal neoplasm that arises from the liver and usually occurs in older children. It is composed of immature spindle, stellate, polymorphous, and giant cells.	UMLS:C0855073|NCIT:C27096
MONDO:0007763	nonpapillary renal cell carcinoma	biolink:Disease	mondo	Orphanet:319276|ICD10:C64|DOID:0050387|OMIM:144700	ordo_disease	renal cell carcinoma, nonpapillary|CCRCC|nonpapillary renal carcinoma 1 locus|RCC|adenocarcinoma of kidney|clear cell renal cell carcinoma|clear cell renal cell adenocarcinoma|renal cell carcinoma, nonpapillary; RCC|hypernephroma	http://purl.obolibrary.org/obo/MONDO_0007763		ORPHA:319276|http://identifiers.org/omim/144700|DOID:0050387
MONDO:0007760	hyperlipoproteinemia, type II, and deafness	biolink:Disease	mondo	UMLS:C1840425|MESH:C564170|OMIM:144300		hyperlipoproteinemia, type II, and deafness	http://purl.obolibrary.org/obo/MONDO_0007760		http://identifiers.org/omim/144300|MESH:C564170|UMLS:C1840425
MONDO:0007761	hyperlipoproteinemia type IV	biolink:Disease	mondo	ICD9:272.1|OMIM:144600|GARD:0006418|UMLS:CN074246|MESH:D006953|SCTID:238085009|ICD10:E78.1|DOID:1172	gard_rare	Fredrickson type IV Lipidemia|hyperlipoproteinemia, type IV|endogenous hyperlipidaemia|Fredrickson type IV hyperlipoproteinemia|carbohydrate-inducible hyperlipemia|familial hypertriglyceridemia|familial type IV hyperlipoproteinemia|VLDL hyperlipoproteinemia|hyperlipoproteinemia, type 4|carbohydrate inducible hyperlipemia|Fredrickson type IV lipidaemia|hyperlipoproteinemia type 4	http://purl.obolibrary.org/obo/MONDO_0007761	A laboratory test result indicating an autosomal dominant condition in which there is increased very low density lipoprotein production, which leads to increased triglyceride concentration.	http://identifiers.org/omim/144600|UMLS:CN074246|SNOMEDCT:238085009|NCIT:C34711|DOID:1172|MESH:D006953
MONDO:0020739	autosomal recessive infantile hypercalcemia 1	biolink:Disease	mondo	OMIM:143880|UMLS:C0268080		HCINF1|hypercalcemia, infantile, 1|hypercalcemia, infantile, 1; HCINF1	http://purl.obolibrary.org/obo/MONDO_0020739		UMLS:C0268080|http://identifiers.org/omim/143880
MONDO:0020738	multiple benign circumferential skin creases on limbs 1	biolink:Disease	mondo	OMIM:156610		skin creases, congenital symmetric circumferential, 1; CSCSC1|skin creases, congenital symmetric circumferential, 1|CSCSC1	http://purl.obolibrary.org/obo/MONDO_0020738		http://identifiers.org/omim/156610
HP:0002034	Abnormal rectum morphology	biolink:PhenotypicFeature	mondo	UMLS:C0266210|SNOMEDCT_US:86993003		Abnormality of the rectum|Anomaly of the rectum	http://purl.obolibrary.org/obo/HP_0002034	An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus.	
MONDO:0020737	optic atrophy 10 with or without ataxia, mental retardation, and seizures	biolink:Disease	mondo	DOID:0111434|OMIM:616732		OPA10|optic atrophy 10 with or without ataxia, mental retardation, and seizures|optic atrophy 10 with or without ataxia, intellectual disability, and seizures|optic atrophy 10 with or without ataxia, mental retardation, and seizures; OPA10|optic atrophy 10 with or without ataxia, intellectual disability, and seizures; OPA10	http://purl.obolibrary.org/obo/MONDO_0020737		DOID:0111434|http://identifiers.org/omim/616732
MONDO:0020736	uncombable hair syndrome 1	biolink:Disease	mondo	OMIM:191480		uncombable hair syndrome 1|uncombable hair syndrome|UHS1|uncombable hair syndrome 1; UHS1|pili trianguli Et canaliculi	http://purl.obolibrary.org/obo/MONDO_0020736		http://identifiers.org/omim/191480
HP:0002035	Rectal prolapse	biolink:PhenotypicFeature	mondo	MSH:D012005|UMLS:C0034888|MEDDRA:10038077|SNOMEDCT_US:57773001	hposlim_core	Rectal prolapsed|Rectum protrudes through anus	http://purl.obolibrary.org/obo/HP_0002035	Protrusion of the rectal mucous membrane through the anus.	
MONDO:0020735	ACTH-independent macronodular adrenal hyperplasia 1	biolink:Disease	mondo	OMIM:219080|DOID:0111623|UMLS:C1857451		AIMAH1|Cushing syndrome, adrenal, due to AIMAH|ACTH-independent macronodular adrenocortical hyperplasia|ACTH-independent macronodular adrenal hyperplasia|ACTH-independent macronodular adrenal hyperplasia; AIMAH1|corticotropin-independent macronodular adrenal hyperplasia|adrenocorticotropic hormone-independent macronodular adrenal hyperplasia	http://purl.obolibrary.org/obo/MONDO_0020735		UMLS:C1857451|DOID:0111623|http://identifiers.org/omim/219080
MONDO:0019757	alobar holoprosencephaly	biolink:Disease	mondo	Orphanet:93925|ICD10:Q04.2|SCTID:253137003	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0019757	Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure.	ORPHA:93925|SNOMEDCT:253137003|UMLS:C0431363
MONDO:0019756	lobar holoprosencephaly	biolink:Disease	mondo	Orphanet:93924|SCTID:253136007|ICD10:Q04.2	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0019756	Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally.	ORPHA:93924|SNOMEDCT:253136007|UMLS:C0431362
MONDO:0020734	erythrocyte AMP deaminase deficiency	biolink:Disease	mondo	OMIM:612874|UMLS:C2752073		erythrocyte AMP deaminase deficiency	http://purl.obolibrary.org/obo/MONDO_0020734		http://identifiers.org/omim/612874|UMLS:C2752073
MONDO:0019759	epispadias (disease)	biolink:Disease	mondo	MESH:D004842|UMLS:C0014588|ICD9:752.62|ICD10:Q64.0|HP:0000039|UMLS:CN227686|SCTID:406476007|Orphanet:93928|MedDRA:10015088|NCIT:C98923	ordo_clinical_subtype	epispadias	http://purl.obolibrary.org/obo/MONDO_0019759	Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra.	SNOMEDCT:406476007|UMLS:C0563449|NCIT:C98923|MESH:D004842|ORPHA:93928|UMLS:CN227686|UMLS:C0014588|MEDDRA:10015088
MONDO:0020733	proximal symphalangism 1A	biolink:Disease	mondo	UMLS:C3714899|OMIM:185800		Sym1|symphalangism, proximal, type 1A|SYM1A|symphalangism, proximal, 1A|Cushing symphalangism|symphalangism, proximal, 1A; SYM1A|hereditary absence of the proximal interphalangeal joints	http://purl.obolibrary.org/obo/MONDO_0020733		http://identifiers.org/omim/185800|UMLS:C3714899
MONDO:0019758	midline interhemispheric variant of holoprosencephaly	biolink:Disease	mondo	Orphanet:93926|UMLS:CN206692|ICD10:Q04.2	ordo_clinical_subtype	Syntelencephaly|middle interhemispheric variant of holoprosencephaly|MIH|MIHF|MIHV|middle interhemispheric fusion variant|MIH type HPE	http://purl.obolibrary.org/obo/MONDO_0019758	Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter.	UMLS:CN206692|ORPHA:93926
MONDO:0020732	progeria	biolink:Disease	mondo	OMIMPS:176670			http://purl.obolibrary.org/obo/MONDO_0020732		
MONDO:0019753	localized Castleman disease	biolink:Disease	mondo	UMLS:C3898582|NCIT:C115200|Orphanet:93685|GARD:0006005|ICD10:D36.0|UMLS:CN206685	ordo_clinical_subtype	Unicentric angiofollicular ganglionic hyperplasia|Unicentric angiofollicular lymph hyperplasia|localized Castleman disease|Unicentric Castleman disease|localized Angiofollicular lymphoid hyperplasia	http://purl.obolibrary.org/obo/MONDO_0019753	Localized Castleman disease (LCD) is the most common form of Castleman disease (CD) and it is usually asymptomatic or it may present with enlarged lymph nodes. LCD may be cured by surgical resection.	ORPHA:93685|NCIT:C115200|UMLS:C3898582|UMLS:CN206685
MONDO:0019752	pediatric Castleman disease	biolink:Disease	mondo	ICD10:D36.0|Orphanet:93682|UMLS:CN206684	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0019752	Pediatric Castleman disease (PCD) is a form of Castleman disease (CD) with a predominant occurrence in teenagers which is either asymptomatic or manifest by systemic (such as fever, anemia, fatigue and failure to thrive) or compressive symptoms.	ORPHA:93682|UMLS:CN206684
MONDO:0019755	developmental defect during embryogenesis	biolink:Disease	mondo	NCIT:C99267|SCTID:400038003|UMLS:CN206687|ICD9:759.7|Orphanet:93890|UMLS:C1302790	ordo_group_of_disorders	malformation syndrome|embryonic morphogenesis disease|rare developmental defect during embryogenesis|developmental defect during embryogenesis|disorder of embryonic morphogenesis|congenital malformation syndrome|disorder of embryonic morphogenesis	http://purl.obolibrary.org/obo/MONDO_0019755	A disease that has its basis in the disruption of embryonic morphogenesis.	ORPHA:93890|SNOMEDCT:400038003|UMLS:C1302790|NCIT:C99267|UMLS:CN206687
MONDO:0019754	multicentric Castleman disease	biolink:Disease	mondo	url:https://rarediseases.info.nih.gov/diseases/9644/multicentric-castleman-disease|GARD:9644|DOID:0111152|GARD:0009644|NCIT:C27855|UMLS:C1334815|ICD10:D36.0|Orphanet:93686	ordo_clinical_subtype	multicentric giant lymph node hyperplasia|multicentric Angiofollicular lymphoid hyperplasia|idiopathic multicentric Castleman's disease|MCD|plasmablastic multicentric Castleman disease|PMCD|multicentric plasma cell variant of Castleman's disease|multicentric Castleman's disease	http://purl.obolibrary.org/obo/MONDO_0019754	Multicentric castleman disease (MCD) is an aggressive form of Castleman disease that mostly results from human herpesvirus 8 (HHV8) infection. It manifests by fever, diffuse lymphadenopathy, hepatosplenomegaly, Involvement of the respiratory system and increased C-reactive protein.	NCIT:C27855|ORPHA:93686|UMLS:C1334815|MESH:C537372|DOID:0111152
MONDO:0019751	autoinflammatory syndrome	biolink:Disease	mondo	UMLS:C3890737|MedDRA:10072220|NCIT:C119050|Orphanet:93665|UMLS:C3267073	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019751	A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease.	NCIT:C119050|ORPHA:93665|UMLS:C3267073|UMLS:C3890737|MEDDRA:10072220
MONDO:0019750	obsolete rare renal disease	biolink:Disease	mondo	UMLS:CN206681|Orphanet:93626	obsoletion_candidate|ordo_group_of_disorders	rare kidney disease|rare urinary system disease	http://purl.obolibrary.org/obo/MONDO_0019750	Any of the forms of urinary system disease that have a rare incidence.	ORPHA:93626|UMLS:CN206681
MONDO:0005119	anthrax infection	biolink:Disease	mondo	DOID:7427|ICD10:A22|ICD9:022.9|MESH:D000881|ICD10:A22.9|GARD:0008157|EFO:0000778|ICD9:022.8|UMLS:C0003175|SCTID:409498004|ICD9:022|NCIT:C84565		anthrax|anthrax disease|Bacillus anthracis disease or disorder|Bacillus anthracis infectious disease|Bacillus anthracis caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005119	An infection caused by Bacillus anthracis bacteria. It may affect the lungs, gastrointestinal tract, or skin. Patients with lung infection present with fever, headaches, cough, chest pain and shortness of breath. Patients with gastrointestinal infection present with nausea, vomiting and bloody diarrhea. Patients with skin infection develop blisters and ulcers.	NCIT:C84565|UMLS:C0003175|DOID:7427|SNOMEDCT:409498004|MESH:D000881
MONDO:0005116	Whipple disease	biolink:Disease	mondo	UMLS:CN204440|UMLS:C2930851|MedDRA:10047931|MESH:D008061|EFO:0000775|GARD:0007889|DOID:8476|SCTID:41545003|ICD10:M14.8*|ICD9:040.2|COHD:197782|ICD10:K90.81|UMLS:C0023788|ICD10:K90.8+|NCIT:C85228|Orphanet:3452	ordo_disease	Tropheryma whipplei disease or disorder|intestinal lipodystrophy|Whipple disease|Whipple's disease|secondary non-tropical sprue|Tropheryma whipplei infectious disease|Tropheryma whippelii infection|Tropheryma whipplei caused disease or disorder|intestinal lipophagic granulomatosis	http://purl.obolibrary.org/obo/MONDO_0005116	A systemic infection caused by the Gram-positive bacterium Tropheryma whipplei. It affects the small intestine resulting in malabsorption. Other sites or systems affected by the infection are the joints, central nervous system, and the cardiovascular system.	UMLS:C0023788|UMLS:CN204440|DOID:8476|ORPHA:3452|UMLS:C2930851|SNOMEDCT:41545003|MESH:C531849|MESH:D008061|MEDDRA:10047931|NCIT:C85228
MONDO:0007779	autosomal dominant Opitz G/BBB syndrome	biolink:Disease	mondo	OMIM:145410|ICD10:Q87.8|Orphanet:306588	ordo_etiological_subtype	GBBB syndrome|autosomal dominant Opitz BBB/G syndrome|Opitz GBBB syndrome, type 2|hypertelorism with esophageal Abnormality and hypospadias|Opitz GBBB syndrome, type II; GBBB2|Opitz G/BBB syndrome, autosomal dominant|hypertelorism-hypospadias syndrome|chromosome 22Q11.2 deletion syndrome, Opitz phenotype|Opitz-Frias syndrome|hypospadias-dysphagia syndrome|autosomal dominant Opitz syndrome|BBB syndrome|GBBB2|Opitz oculogenitolaryngeal syndrome, type 2|telecanthus with associated abnormalities|ADOS|telecanthus-hypospadias syndrome|Opitz GBBB syndrome, autosomal dominant|G syndrome|Opitz Bbbg syndrome|Opitz-G syndrome, type 2|Opitz GBBB syndrome, type II	http://purl.obolibrary.org/obo/MONDO_0007779	Autosomal dominant form of Opitz G/BBB syndrome.	http://identifiers.org/omim/145410|ORPHA:306588
MONDO:0005115	temporal lobe epilepsy	biolink:Disease	mondo	MESH:D004833|EFO:0000773|UMLS:C0014556|SCTID:193000002|OMIMPS:600512|NIFSTD:birnlex_12733|DOID:3328		epilepsy, temporal lobe|temporal lobe epilepsy|epilepsy, familial temporal lobe|epilepsy of temporal lobe	http://purl.obolibrary.org/obo/MONDO_0005115	A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see epilepsy, complex partial) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)	MESH:D004833|UMLS:C0014556|SNOMEDCT:193000002|DOID:3328
MONDO:0007777	hypertaurinuric cardiomyopathy	biolink:Disease	mondo	UMLS:C1840385|MESH:C564157|OMIM:145350		hypertaurinuric cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0007777		http://identifiers.org/omim/145350|MESH:C564157|UMLS:C1840385
MONDO:0005118	human granulocytic ehrlichiosis	biolink:Disease	mondo	DOID:0050025|GARD:0000071|EFO:0000777|SCTID:85708001|ICD9:082.49	gard_rare	human granulocytic ehrlichiosis|HGE|infection by Anaplasma phagocytophilum|human anaplasmosis due to Anaplasma phagocytophilum|human ehrlichial infection, human granulocytic type|human anaplasmosis caused by Anaplasma phagocytophilum|human granulocytic anaplasmosis	http://purl.obolibrary.org/obo/MONDO_0005118	A tick-borne, infectious disease caused by Anaplasma phagocytophilum, an obligate intracellular bacterium that is typically transmitted to humans by ticks of the Ixodes ricinus species complex.	SNOMEDCT:85708001|DOID:0050025
MONDO:0007778	obsolete hypertelorism (disease)	biolink:Disease	mondo	SCTID:22006008|OMIM:145400|MESH:D006972|ICD9:376.41|HP:0000316|NCIT:C34715		hypertelorism of orbit|hypertelorism	http://purl.obolibrary.org/obo/MONDO_0007778	A condition in which there is an abnormally increased distance between two organs or bodily parts; most often, this term is referring to an increased distance between the orbits (orbital hypertelorism).	MESH:D006972|http://identifiers.org/omim/145400|SNOMEDCT:22006008|NCIT:C34715
MONDO:0005117	Aeromonas hydrophila infectious disease	biolink:Disease	mondo	EFO:0000776		Aeromonas hydrophila caused disease or disorder|Aeromonas hydrophila disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005117	Aeromonas hydrophila infection is a bacterial disease caused by infection from the Aeromonas hydrophila bacteria.	
MONDO:0020731	arbovirus infection	biolink:Disease	mondo	SCTID:40610006|NCIT:C34396|EFO:1001269|UMLS:C0003723|MESH:D001102		ARBOVIRUS INFECT|Arbovirus Infection|Arbovirus infection|Arbovirus Infections|Arthropod-borne viral infection|arbovirus infection|Infections, Arbovirus|arthropod-borne viral infection|Infection, Arbovirus|Arboviral disease|Arthropod-Borne Viral Infection	http://purl.obolibrary.org/obo/MONDO_0020731	A viral infection that is transmitted by an arthropod.	SNOMEDCT:40610006|UMLS:C0003723|MESH:D001102|NCIT:C34396
MONDO:0007775	hypersecretion of adrenal androgens, familial	biolink:Disease	mondo	UMLS:C1840387|GARD:0009593|MESH:C536845|OMIM:145295	gard_rare	hypersecretion of adrenal androgens, familial|familial hypersecretion of adrenal androgens	http://purl.obolibrary.org/obo/MONDO_0007775		MESH:C536845|UMLS:C1840387|http://identifiers.org/omim/145295
MONDO:0005112	malignant pleural mesothelioma	biolink:Disease	mondo	ICD10:C45.0|SCTID:254645002|UMLS:C0812413|EFO:0000770|DOID:7474|NCIT:C7376|COHD:4111917		malignant pleural mesothelioma|pleural malignant mesothelioma|pleural diffuse malignant mesothelioma|malignant mesothelioma of pleura|pleura mesothelioma|malignant mesothelioma of the pleura	http://purl.obolibrary.org/obo/MONDO_0005112	A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive.	DOID:7474|UMLS:C0812413|NCIT:C7376|SNOMEDCT:254645002
MONDO:0005111	Epstein-Barr virus infection	biolink:Disease	mondo	EFO:0000769|UMLS:C0149678|NCIT:C38759|MESH:D020031		Epstein Barr Virus infections|Herpesvirus 4 infections, Human|infections, Epstein-Barr Virus|Epstein-Barr Virus infection|Human gammaherpesvirus 4 infectious disease|EBV infection|Human Herpesvirus 4 infections|Human gammaherpesvirus 4 caused disease or disorder|Human gammaherpesvirus 4 disease or disorder|EBV infections|infections, EBV|Virus infections, Epstein-Barr|Human Herpes Virus 4 infections	http://purl.obolibrary.org/obo/MONDO_0005111	An infection that is caused by Epstein-Barr virus.	MESH:D020031|UMLS:C0149678|NCIT:C38759
MONDO:0020730	carpal tunnel syndrome 1	biolink:Disease	mondo	OMIM:115430		carpal tunnel syndrome; CTS1|carpal tunnel syndrome|amyotrophy, thenar, of carpal origin|CTS|CTS1	http://purl.obolibrary.org/obo/MONDO_0020730		http://identifiers.org/omim/115430
NCBITaxon:44556	Phlebotomus <subgenus>	organism taxon	mondo	GC_ID:1		Phlebotomus	http://purl.obolibrary.org/obo/NCBITaxon_44556		
MONDO:0007776	hypersensitivity pneumonitis, familial	biolink:Disease	mondo	OMIM:145300|UMLS:C1840386|MESH:C536846		hypersensitivity pneumonitis, familial|hereditary hypersensitivity pneumonitis	http://purl.obolibrary.org/obo/MONDO_0007776	An instance of hypersensitivity pneumonitis that is caused by an inherited modification of the individual's genome.	http://identifiers.org/omim/145300|MESH:C536846|UMLS:C1840386
MONDO:0005114	pneumococcal infection	biolink:Disease	mondo	SCTID:16814004|UMLS:C0032269|ICD9:041.2|EFO:0000772|MESH:D011008		pneumoniae infections, Streptococcus|infections, pneumococcal|pneumoniae infection, Streptococcus|Streptococcus pneumoniae disease or disorder|Streptococcus pneumoniae infectious disease|Streptococcus pneumoniae caused disease or disorder|infection, Streptococcus pneumoniae|Streptococcus pneumoniae infections|infections, Streptococcus pneumoniae|Streptococcus pneumoniae infection|pneumococcal infection|infection, pneumococcal	http://purl.obolibrary.org/obo/MONDO_0005114	Infections with bacteria of the species streptococcus pneumoniae.	UMLS:C0032269|SNOMEDCT:16814004|MESH:D011008
MONDO:0007773	hyperproglucagonemia	biolink:Disease	mondo	MESH:C564159|UMLS:C1840388|OMIM:145270		glucagon, large molecular weight species of|hyperproglucagonemia	http://purl.obolibrary.org/obo/MONDO_0007773		MESH:C564159|UMLS:C1840388|http://identifiers.org/omim/145270
MONDO:0005113	bacterial infectious disease	biolink:Disease	mondo	ICD9:040.89|ICD9:041.89|MESH:D001424|ICD10:A49|UMLS:C0004623|ICD10:A49.9|NCIT:C2890|SCTID:87628006|COHD:432545|EFO:0000771|ICD9:041.9|DOID:104		bacterial disorder|infections, bacterial|infection, bacterial|Bacteria infectious disease|bacterial infectious disease|Bacteria caused disease or disorder|bacterial disease|Bacteria disease or disorder|bacterial infection	http://purl.obolibrary.org/obo/MONDO_0005113	An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections.	UMLS:C0004623|SNOMEDCT:87628006|NCIT:C2890|DOID:104|MESH:D001424
MONDO:0007774	hyperreflexia (disease)	biolink:Disease	mondo	MESH:D012021|HP:0001347|OMIM:145290		hyperreflexia; HRX|hyperreflexia|HRX	http://purl.obolibrary.org/obo/MONDO_0007774	An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes.	MESH:D012021|http://identifiers.org/omim/145290
MONDO:0007771	hyperpigmentation with or without hypopigmentation, familial progressive	biolink:Disease	mondo	DOID:0111373|UMLS:C1835039|OMIM:145250		melanosis universalis hereditaria|hyperpigmentation with or without hypopigmentation, familial progressive; FPHH|hyperpigmentation with or without hypopigmentation, familial progressive|hyperpigmentation, familial progressive, 2|FPHH|macules, hereditary congenital hypopigmented and hyperpigmented|melanosis, universal|hyperpigmentation, familial progressive, 2, formerly	http://purl.obolibrary.org/obo/MONDO_0007771		DOID:0111373|UMLS:C1835039|http://identifiers.org/omim/145250
NCBITaxon:1570301	Saccotheciaceae	organism taxon	mondo	GC_ID:1		Saccotheciei|Aureobasidiaceae	http://purl.obolibrary.org/obo/NCBITaxon_1570301		
MONDO:0007772	pseudohypoaldosteronism type 2A	biolink:Disease	mondo	Orphanet:88938|UMLS:C1840389|OMIM:145260|ICD10:I15.1|SCTID:703254001	ordo_etiological_subtype	pseudohypoaldosteronism, type IIA|hyperpotassemia and hypertension, familial|hypertensive hyperkalemia, familial|PHA2A|pseudohypoaldosteronism, type IIA; PHA2A|Gordon hyperkalemia-hypertension syndrome	http://purl.obolibrary.org/obo/MONDO_0007772		SNOMEDCT:703254001|ORPHA:88938|UMLS:C1840389|http://identifiers.org/omim/145260
MONDO:0005110	idiopathic cardiomyopathy	biolink:Disease	mondo	EFO:0000767|NCIT:C53654			http://purl.obolibrary.org/obo/MONDO_0005110	A disease of the heart muscle or myocardium proper whose cause is unknown.	NCIT:C53654
MONDO:0007770	hyperpigmentation of Fuldauer and Kuijpers	biolink:Disease	mondo	OMIM:145200|UMLS:C1840393|MESH:C564164		hyperpigmentation of Fuldauer and Kuijpers	http://purl.obolibrary.org/obo/MONDO_0007770		MESH:C564164|http://identifiers.org/omim/145200|UMLS:C1840393
MONDO:0020728	hypouricemia, renal 1	biolink:Disease	mondo	UMLS:C0473219|OMIM:220150		renal hypouricemia|hypouricemia, renal, type 1|hypouricemia, renal, 1|RHUC1|hypouricemia, renal, 1; RHUC1|Dalmatian hypouricemia	http://purl.obolibrary.org/obo/MONDO_0020728		http://identifiers.org/omim/220150|UMLS:C0473219
PATO:0002098	neoplastic, metastatic	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0002098	A disposition inhering in a tumour by virtue of the bearer's disposition to spread and invade distant tissues.	
HP:0002047	Malignant hyperthermia	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:213026003|MSH:D008305|SNOMEDCT_US:405501007|UMLS:C0024591		Malignant hyperthermia with anesthesia	http://purl.obolibrary.org/obo/HP_0002047	Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine.	
MONDO:0019749	obsolete rare renal tumor	biolink:Disease	mondo	Orphanet:93619	ordo_group_of_disorders|obsoletion_candidate	rare kidney neoplasm	http://purl.obolibrary.org/obo/MONDO_0019749	Any of the forms of kidney neoplasm that have a rare incidence.	ORPHA:93619
MONDO:0020727	combined oxidative phosphorylation deficiency 22	biolink:Disease	mondo	DOID:0111498|OMIM:616045	n_of_one	combined oxidative phosphorylation deficiency 22; COXPD22|combined oxidative phosphorylation deficiency type 22|combined oxidative phosphorylation deficiency 22|COXPD22	http://purl.obolibrary.org/obo/MONDO_0020727		DOID:0111498|http://identifiers.org/omim/616045
MONDO:0020726	medullary cystic kidney disease 1	biolink:Disease	mondo	GARD:0007002|Orphanet:88949|OMIM:174000|UMLS:C1868139|ICD10:Q61.5|NCIT:C123171|UMLS:CN206321	ordo_clinical_subtype	ADTKD-MUC1|medullary cystic kidney disease 1|polycystic kidneys, medullary type|autosomal dominant tubulointerstitial kidney disease due to mutations in MUC1|MUC1-related autosomal dominant tubulointerstitial kidney disease|medullary cystic kidney disease, autosomal dominant|MCKD1|Mckd|ADMCKD1|medullary cystic kidney disease type 1|medullary cystic kidney disease 1; MCKD1|MUCI-related ADTKD|autosomal dominant medullary cystic kidney disease without hyperuricemia|MUC1-related autosomal dominant medullary cystic kidney disease	http://purl.obolibrary.org/obo/MONDO_0020726	An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function.	NCIT:C123171|ORPHA:88949|UMLS:C1868139|UMLS:CN206321|http://identifiers.org/omim/174000
PATO:0002096	neoplastic, non-malignant	biolink:OntologyClass	mondo			benign	http://purl.obolibrary.org/obo/PATO_0002096	A disposition inhering in a tumour by virtue of the bearer's disposition not to progress, invade surrounding tissues or metastasize.	
MONDO:0020725	anemia due to chronic disorder	biolink:Disease	mondo	UMLS:C0002873|NCIT:C35659|ICD9:285.29|SCTID:234347009		anemia due to chronic disorder|anemia of chronic illness|anemia of chronic disorder|anemia of chronic inflammation|anemia of chronic disease|anemia of chronic disease|anemia of systemic disease|anemia due to Chronic Disorder|Secondary anemia	http://purl.obolibrary.org/obo/MONDO_0020725	Anemia due to a disorder that is persistent or long-standing in nature.	UMLS:C0002873|NCIT:C35659|SNOMEDCT:234347009
PATO:0002097	neoplastic, malignant	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0002097	A disposition inhering in a tumour by virtue of the bearer's disposition to progress, invade surrounding tissues or metastasize.	
MONDO:0020724	familial cerebral cavernous malformation 1	biolink:Disease	mondo	OMIM:116860|DOID:0080491		cerebral cavernous malformations 1|hyperkeratotic cutaneous capillary-Venous malformations associated with cerebral capillary malformations|cerebral capillary malformations|cavernous angiomatous malformations|cavernous angioma, familial|cerebral cavernous malformations; CCM|CCM|cerebral cavernous malformations|cavernous malformations of CNS and retina	http://purl.obolibrary.org/obo/MONDO_0020724		http://identifiers.org/omim/116860|DOID:0080491
MONDO:0019746	cystinuria type B	biolink:Disease	mondo	Orphanet:93613|UMLS:C1857389|ICD10:E72.0	ordo_etiological_subtype		http://purl.obolibrary.org/obo/MONDO_0019746		ORPHA:93613|UMLS:C1857389
MONDO:0020723	vitamin D-dependent rickets, type 1A	biolink:Disease	mondo	OMIM:264700|UMLS:C0268689		1-Alpha, 25-Hydroxyvitamin D3 deficiency, selective|vitamin D-dependent rickets, type 1A|vitamin D dependency, type 1|vitamin D hydroxylation-deficient rickets, type 1A|25-hydroxycholecalciferol-1-Hydroxylase deficiency|pseudovitamin D-deficiency rickets, type 1A|VDDR1A|PDDR 1A|1-Alpha-Hydroxylase deficiency|vitamin D hydroxylation-deficient rickets, type 1A; VDDR1A	http://purl.obolibrary.org/obo/MONDO_0020723		UMLS:C0268689|http://identifiers.org/omim/264700
MONDO:0019745	cystinuria type A	biolink:Disease	mondo	Orphanet:93612|ICD10:E72.0|MESH:C565652	ordo_etiological_subtype		http://purl.obolibrary.org/obo/MONDO_0019745		ORPHA:93612|MESH:C565652
MONDO:0020722	nephrolithiasis susceptibility caused by SLC26A1	biolink:Disease	mondo	UMLS:C1833683|OMIM:167030		urolithiasis, calcium oxalate|CAON|nephrolithiasis, calcium oxalate|nephrolithiasis, calcium oxalate; CAON	http://purl.obolibrary.org/obo/MONDO_0020722		http://identifiers.org/omim/167030|UMLS:C1833683
MONDO:0019748	rare cause of hypertension	biolink:Disease	mondo	UMLS:CN227685|Orphanet:93618	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0019748		ORPHA:93618|UMLS:CN227685
MONDO:0019747	hematological disorder with renal involvement	biolink:Disease	mondo	UMLS:CN227684|Orphanet:93614	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019747		ORPHA:93614|UMLS:CN227684
MONDO:0020721	X-linked sideroblastic anemia 1	biolink:Disease	mondo	GARD:0009456|Orphanet:75563|OMIM:300751|MESH:C536761|UMLS:C0221018|SCTID:62677000|ICD10:D64.0|DOID:0060063	ordo_disease	anemia sex-linked hypochromic sideroblastic|anemia, sideroblastic, 1|hereditary iron-loading Anemia|SIDBA1|anemia, sideroblastic, X-linked|anemia, sideroblastic, 1; SIDBA1|sideroblastic anemia X-linked|anemia, hereditary sideroblastic|anemia, sideroblastic, X-linked; XLSA|sideroblastic anemia, X-linked|XLSA|anemia, hypochromic|anemia hereditary sideroblastic|ANH1|X-linked sideroblastic anemia|X chromosome-linked sideroblastic anemia|erythroid 5-aminolevulinate synthase deficiency	http://purl.obolibrary.org/obo/MONDO_0020721		http://identifiers.org/omim/300751|ORPHA:75563|MESH:C536761|UMLS:C0221018|DOID:0060063|SNOMEDCT:62677000
MONDO:0019742	late-onset nephronophthisis	biolink:Disease	mondo	Orphanet:93589|ICD10:Q61.5	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0019742		ORPHA:93589
MONDO:0019741	familial cystic renal disease	biolink:Disease	mondo	Orphanet:93587|UMLS:CN206655	ordo_group_of_disorders	hereditary cystic kidney disease	http://purl.obolibrary.org/obo/MONDO_0019741	An instance of cystic kidney disease that is caused by an inherited modification of the individual's genome.	ORPHA:93587|UMLS:CN206655
MONDO:0019744	rare renal tubular disease	biolink:Disease	mondo	Orphanet:93603	ordo_group_of_disorders|obsoletion_candidate	disease of renal tubule|renal tubule disease	http://purl.obolibrary.org/obo/MONDO_0019744	Any disease in which the causes of the disease is a perturbation of the renal tubule leading to its dysfunction.	ORPHA:93603
MONDO:0019743	nephropathy secondary to a storage or other metabolic disease	biolink:Disease	mondo	UMLS:CN206659|Orphanet:93593	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019743		UMLS:CN206659|ORPHA:93593
PATO:0002094	basophilic	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0002094	An affinity inhering in a tissue constituent by virtue of the bearer exhibiting a molecular interaction for basic dyes under specific ph conditions.	
MONDO:0019740	acquired thrombotic thrombocytopenic purpura	biolink:Disease	mondo	SCTID:438476003|NCIT:C131653|GARD:0004607|MESH:C536901|Orphanet:93585|UMLS:C2584778|ICD10:M31.3|UMLS:C2584777	ordo_clinical_subtype|gard_rare	TTP|idiopathic thrombotic thrombocytopenic purpura|autoimmune thrombotic thrombocytopenic purpura|Moschowitz syndrome|acquired thrombotic thrombocytopenic purpura|acquired ADAMTS13 deficiency|purpura, thrombotic thrombocytopenic|acquired TTP	http://purl.obolibrary.org/obo/MONDO_0019740	Acquired thrombotic thrombocytopenic purpura is the non-hereditary form of thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.	ORPHA:93585|UMLS:C2584777|UMLS:C2584778|MESH:C536901|NCIT:C131653|SNOMEDCT:438476003
PATO:0002092	anaplastic	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0002092	A morphology quality inhering in a neoplastic cell by virtue of the bearer's exhibiting breakdown of cell-cell interaction maintaining tissue architecture, proliferative dysregulation and bizarre modification to nucleus size and shape.	
MONDO:0020729	autosomal recessive agammaglobulinemia 1	biolink:Disease	mondo	OMIM:601495		agammaglobulinemia 1, autosomal recessive|agammaglobulinemia, autosomal recessive, due to IGHM defect|AGM1|agammaglobulinemia 1, autosomal recessive; AGM1	http://purl.obolibrary.org/obo/MONDO_0020729		http://identifiers.org/omim/601495
HGNC:2708	DCR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2708		
HGNC:2707	ACE	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2707		
GO:0007517	muscle organ development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0007517	The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work.	
HGNC:2705	DCN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2705		
UBERON:0004538	left kidney	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004538	A kidney that is part of a left side of organism [Automatically generated definition].	
HGNC:2701	DCC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2701		
UBERON:0004539	right kidney	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004539	A kidney that is part of a right side of organism [Automatically generated definition].	
UBERON:0016525	frontal lobe	biolink:AnatomicalEntity	mondo			frontal region|frontal cortex|regio frontalis|lobi frontales|lobus frontalis	http://purl.obolibrary.org/obo/UBERON_0016525	Frontal lobe is the anterior-most of five lobes of the cerebral hemisphere. It is bounded by the central sulcus on its posterior border and by the longitudinal cerebral fissure on its medial border.	
UBERON:0016527	white matter of cerebral lobe	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0016527		
UBERON:0016526	lobe of cerebral hemisphere	biolink:AnatomicalEntity	mondo			cerebral lobe|lobe of cerebral cortex|lobe parts of cerebral cortex|cerebral cortical segment|segment of cerebral cortex|regional organ part of cerebral cortex|cerebral hemisphere lobe|lobi cerebri|lobes of the brain	http://purl.obolibrary.org/obo/UBERON_0016526	Subdivision of telencephalon which is one of a number of subdivisions of each hemisphere separated by both real landmarks (sulci and fissures) and arbitrary boundaries[FMA,modified].	
UBERON:0016520	epithelium of female urethra	biolink:AnatomicalEntity	mondo			female urethral epithelium|urethral epithelium of female	http://purl.obolibrary.org/obo/UBERON_0016520	A epithelium that is part of a female urethra.	
UBERON:0016522	cavity of right atrium	biolink:AnatomicalEntity	mondo			right atrial cavity	http://purl.obolibrary.org/obo/UBERON_0016522	luminal space of the right atrium of the heart.	
CHEBI:33595	cyclic compound	biolink:ChemicalSubstance	mondo			cyclic compounds	http://purl.obolibrary.org/obo/CHEBI_33595	Any molecule that consists of a series of atoms joined together to form a ring.	
CHEBI:33597	homocyclic compound	biolink:ChemicalSubstance	mondo			homocyclic compound|isocyclic compounds|homocyclic compounds	http://purl.obolibrary.org/obo/CHEBI_33597	A cyclic compound having as ring members atoms of the same element only.	
CHEBI:33598	carbocyclic compound	biolink:ChemicalSubstance	mondo			carbocyclic compounds|carbocyclic compound|carbocycle	http://purl.obolibrary.org/obo/CHEBI_33598	A homocyclic compound in which all of the ring members are carbon atoms.	
UBERON:0016517	lumen of jejunum	biolink:AnatomicalEntity	mondo			jejunal lumen|jejunum lumen	http://purl.obolibrary.org/obo/UBERON_0016517	A anatomical space that is part of a jejunum.	
HGNC:2711	DCTN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2711		
UBERON:0004548	left eye	biolink:AnatomicalEntity	mondo			left eyeball|left orbital part of face|left orbital region	http://purl.obolibrary.org/obo/UBERON_0004548	An eye that is part of a left side of organism [Automatically generated definition].	
ENVO:00005750	grassland soil	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_00005750	A portion of soil which is found in a grassland.	
UBERON:0004544	epididymis epithelium	biolink:AnatomicalEntity	mondo			epithelium of epididymis|epididymis epithelium	http://purl.obolibrary.org/obo/UBERON_0004544	the layer of secretory cells which lines the epididymis	
HGNC:2719	DDC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2719		
HGNC:2718	DDB2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2718		
UBERON:0004529	anatomical projection	biolink:AnatomicalEntity	mondo			shelves|ridges|spine|processus|papilla|protrusion|lamella|lamina|projections|flanges|anatomical protrusion|lamellae|laminae|anatomical process|flange|organ process|projection|process|processes|ridge|shelf|projection|process of organ	http://purl.obolibrary.org/obo/UBERON_0004529	A projection or outgrowth of tissue from a larger body or organ.	
HGNC:2714	DCX	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2714		
UBERON:0004527	alveolar process of maxilla	biolink:AnatomicalEntity	mondo			alveolar margin of maxilla|alveolar process of maxilla|maxilla alveolar process|processus alveolaris (maxilla)|pars dentalis of maxilla|alveolar part of maxilla|posterior alveolar ridge|processus alveolaris maxillae|lower alveolar ridge|alveolar ridge of maxilla	http://purl.obolibrary.org/obo/UBERON_0004527	The thickened ridge of bone that contains the tooth sockets on the maxilla.	
UBERON:0004528	alveolar ridge of mandible	biolink:AnatomicalEntity	mondo			alveolar process of mandible|anterior alveolar ridge|alveolar margin of mandible|pars alveolaris (mandibula)|pars alveolaris mandibulae|upper alveolar ridge|alveolar part of mandible|alveolar arch of mandible	http://purl.obolibrary.org/obo/UBERON_0004528	The thickened ridge of bone that contains the tooth sockets on the mandible.	
UBERON:0016514	cavity of left ventricle	biolink:AnatomicalEntity	mondo			left ventricular cavity	http://purl.obolibrary.org/obo/UBERON_0016514	luminal space of the left ventricle of the heart.	
UBERON:0016513	cavity of left atrium	biolink:AnatomicalEntity	mondo			left atrium lumen|left atrial cavity	http://purl.obolibrary.org/obo/UBERON_0016513	luminal space of the left atrium of the heart.	
UBERON:0016516	lamina propria of prostatic urethra	biolink:AnatomicalEntity	mondo			lamina propria of prostatic part of urethra|lamina propria of prostatic urethra	http://purl.obolibrary.org/obo/UBERON_0016516	A lamina propria that is part of a prostatic urethra.	
UBERON:0016515	muscular layer of prostatic urethra	biolink:AnatomicalEntity	mondo			muscle layer of prostatic urethra|muscle layer of prostatic part of urethra|muscular coat of prostatic urethra	http://purl.obolibrary.org/obo/UBERON_0016515	A muscular coat that is part of a prostatic urethra.	
PATO:0002039	biconcave	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0002039	A concave quality inhering in a bearer by virtue of the bearer's curving inward on both sides or surfaces.	
UBERON:0016510	epithelium of male urethra	biolink:AnatomicalEntity	mondo			male urethral epithelium|urethral epithelium of male	http://purl.obolibrary.org/obo/UBERON_0016510	A epithelium that is part of a male urethra.	
UBERON:0016512	lumen of duodenum	biolink:AnatomicalEntity	mondo			duodenal lumen|doudenal lumen	http://purl.obolibrary.org/obo/UBERON_0016512	A anatomical space that is part of a duodenum.	
UBERON:0016511	lamina propria of fundus of stomach	biolink:AnatomicalEntity	mondo			lamina propria mucosae of fundus of stomach	http://purl.obolibrary.org/obo/UBERON_0016511	A lamina propria that is part of a mucosa of fundus of stomach.	
UBERON:0016509	cavity of right ventricle	biolink:AnatomicalEntity	mondo			right ventricular cavity|right ventricle lumen	http://purl.obolibrary.org/obo/UBERON_0016509	Luminal space of the right ventricle of the heart.	
UBERON:0004536	lymph vasculature	biolink:AnatomicalEntity	mondo			lymphatic vasculature|set of lymphatic vessels|trunci et ductus lymphatici|lymphatic vessels set|lymphatic trunks and ducts|lymph vessels|lymphatic vessel network	http://purl.obolibrary.org/obo/UBERON_0004536	A network of blunt ended vessels lacking direct connection to the blood vascular system. These vessels collect and drain fluids and macromolecules from interstitial spaces throughout the animal. They derive from a subpopulation of endothelial cells and have walls that are much thinner than the blood carrying vessels. Lymphatic vessels are usually classified as either superficial or deep.	
UBERON:0004537	blood vasculature	biolink:AnatomicalEntity	mondo			blood vascular network|blood vessels|blood system|blood vessel system|set of blood vessels	http://purl.obolibrary.org/obo/UBERON_0004537	A vascular network consisting of blood vessels.	
UBERON:0004534	right testis	biolink:AnatomicalEntity	mondo			right testicle	http://purl.obolibrary.org/obo/UBERON_0004534	A testis that is in the right side of the genitalia [Automatically generated definition].	
UBERON:0004535	cardiovascular system	biolink:AnatomicalEntity	mondo			CV system|Herz und Gefaesssystem	http://purl.obolibrary.org/obo/UBERON_0004535	Anatomical system that has as its parts the heart and blood vessels.	
UBERON:0004533	left testis	biolink:AnatomicalEntity	mondo			left testicle	http://purl.obolibrary.org/obo/UBERON_0004533	A testis that is in the left side of the genitalia [Automatically generated definition].	
UBERON:0004530	bony projection	biolink:AnatomicalEntity	mondo			bony projections|bone process|projection of bone	http://purl.obolibrary.org/obo/UBERON_0004530	Anatomical projection that is composed of bone tissue.	
HGNC:2728	DDOST	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2728		
UBERON:0004518	muscle of vertebral column	biolink:AnatomicalEntity	mondo			vertebral column muscle	http://purl.obolibrary.org/obo/UBERON_0004518	A muscle that is attached to a vertebra of the vertebral column.	
HGNC:2726	DDIT3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2726		
UBERON:0004516	smooth muscle tissue of terminal bronchiole	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004516	A portion of smooth muscle tissue that is part of a terminal bronchiole [Automatically generated definition].	
UBERON:0004517	smooth muscle tissue of respiratory bronchiole	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004517	A portion of smooth muscle tissue that is part of a respiratory bronchiole [Automatically generated definition].	
UBERON:0016502	stomach fundus lumen	biolink:AnatomicalEntity	mondo			cavity of fundus of stomach|lumen of fundus of stomach|lumen of stomach fundus	http://purl.obolibrary.org/obo/UBERON_0016502	A anatomical space that is enclosed by a fundus of stomach.	
NCBITaxon:188550	Raphignathae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_188550		
CHEBI:33575	carboxylic acid	biolink:ChemicalSubstance	mondo			Carbonsaeuren|carboxylic acids|Carbonsaeure|acido carboxilico|carboxylic acid|acides carboxyliques|acide carboxylique|RC(=O)OH|acidos carboxilicos|Karbonsaeure	http://purl.obolibrary.org/obo/CHEBI_33575	A carbon oxoacid acid carrying at least one -C(=O)OH group and having the structure RC(=O)OH, where R is any any monovalent functional group. Carboxylic acids are the most common type of organic acid.	
CHEBI:33579	main group molecular entity	biolink:ChemicalSubstance	mondo			main group compounds|main group molecular entities	http://purl.obolibrary.org/obo/CHEBI_33579	A molecular entity containing one or more atoms from any of groups 1, 2, 13, 14, 15, 16, 17, and 18 of the periodic table.	
HGNC:2731	DDR2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2731		
UBERON:0004521	vasculature of muscle organ	biolink:AnatomicalEntity	mondo			muscular organ vasculature	http://purl.obolibrary.org/obo/UBERON_0004521	A vasculature that is part of a muscle organ [Automatically generated definition].	
UBERON:0004522	vasculature of musculoskeletal system	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004522	A vasculature that is part of a musculoskeletal system [Automatically generated definition].	
UBERON:0004520	striated muscle tissue of prostate	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004520	A portion of striated muscle tissue that is part of a prostate gland [Automatically generated definition].	
GO:0007507	heart development	biolink:OntologyClass	mondo			cardiac development|dorsal vessel development	http://purl.obolibrary.org/obo/GO_0007507	The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood.	
ENVO:00005748	dry soil	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_00005748	Soil which has little to no water content and in which minerals and other soluble chemical entities have either bonded or become adsorbed to sold particles due to insufficient water availability.	
HGNC:2736	DDX11	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2736		
UBERON:0004508	skeletal muscle tissue of levator palpebrae superioris	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004508	A portion of skeletal muscle tissue that is part of a levator palpebrae superioris [Automatically generated definition].	
CHEBI:33583	noble gas molecular entity	biolink:ChemicalSubstance	mondo			noble gas molecular entities|noble gas compounds|noble gas molecular entity	http://purl.obolibrary.org/obo/CHEBI_33583	A main group molecular entity containing one or more atoms of any noble gas.	
NCBITaxon:188543	Demodicidae	organism taxon	mondo	GC_ID:1		follicle mites	http://purl.obolibrary.org/obo/NCBITaxon_188543		
NCBITaxon:188544	Demodex	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_188544		
UBERON:0004515	smooth muscle tissue of bronchiole	biolink:AnatomicalEntity	mondo			smooth muscle tissue of lobular bronchiole	http://purl.obolibrary.org/obo/UBERON_0004515	A portion of smooth muscle tissue that is part of a bronchiole [Automatically generated definition].	
NCBITaxon:188547	Cheyletoidea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_188547		
CHEBI:33582	carbon group molecular entity	biolink:ChemicalSubstance	mondo			carbon group molecular entity|carbon group molecular entities	http://purl.obolibrary.org/obo/CHEBI_33582		
MONDO:0007706	cavernous hemangiomas of face-supraumbilical midline raphe syndrome	biolink:Disease	mondo	GARD:0008524|SCTID:234140000|UMLS:C0472694|ICD10:D18.0|Orphanet:2124|OMIM:140850|MESH:C538144	ordo_malformation_syndrome	hemangiomas, cavernous, of face and supraumbilical MIDLINE raphe|sternal nonunion with supraumbilical raphe|supraumbilical midabdominal raphe and facial cavernous hemangiomas|hemangiomas cavernous of face supraumbilical midline raphe|raphe, supraumbilical Midline, with cavernous Facial hemangiomas	http://purl.obolibrary.org/obo/MONDO_0007706		MESH:C538144|ORPHA:2124|http://identifiers.org/omim/140850|SNOMEDCT:234140000|UMLS:C0472694
MONDO:0007707	hemangiomas of small intestine	biolink:Disease	mondo	MESH:C564201|OMIM:140900|UMLS:C1841654		hemangiomas of small intestine|hemangioma of small intestine|small intestine hemangioma	http://purl.obolibrary.org/obo/MONDO_0007707	A hemangioma that involves the small intestine.	MESH:C564201|http://identifiers.org/omim/140900|UMLS:C1841654
MONDO:0007704	osteoarthritis susceptibility 2	biolink:Disease	mondo	OMIM:140600	predisposition	osteoarthritis caused by mutation in MATN3|hand osteoarthritis|OS2|osteoarthritis susceptibility 2|osteoarthritis susceptibility 2; OS2|MATN3 osteoarthritis|OADIP|osteoarthritis of distal interphalangeal joints|osteoarthritis susceptibility type 2|Dipoa|Heberden nodes	http://purl.obolibrary.org/obo/MONDO_0007704		http://identifiers.org/omim/140600
MONDO:0007705	Heinz body anemia	biolink:Disease	mondo	DOID:0111363|MedDRA:10002058|OMIM:140700|ICD10:D58.2|MESH:C563030|GARD:0010718|HP:0005511|UMLS:C0700299|Orphanet:178330	ordo_disease	Heinz body anemias	http://purl.obolibrary.org/obo/MONDO_0007705		UMLS:C0700299|ORPHA:178330|DOID:0111363|http://identifiers.org/omim/140700|MESH:C563030|MEDDRA:10002058
MONDO:0007702	heart-hand syndrome type 3	biolink:Disease	mondo	SCTID:721013001|Orphanet:1342|MESH:C535853|GARD:0002614|OMIM:140450|ICD10:Q87.2|UMLS:C1841657	ordo_malformation_syndrome	heart-limb syndrome type 3|Cardiomelic syndrome type 3|upper limb malformations and congenital cardiac anomalies|heart-hand syndrome, Spanish type|brachydactyly and intraventricular conduction defect|atriodigital dysplasia type 3	http://purl.obolibrary.org/obo/MONDO_0007702	Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.	ORPHA:1342|http://identifiers.org/omim/140450|MESH:C535853|SNOMEDCT:721013001|UMLS:C1841657
MONDO:0007703	obsolete heart, malformation of	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0007703		
MONDO:0007700	hawkinsinuria	biolink:Disease	mondo	SCTID:414380008|ICD10:E70.2|GARD:0005668|UMLS:C2931042|Orphanet:2118|OMIM:140350|MESH:C535845|DOID:0111362	gard_rare|ordo_disease	4-hydroxyphenylpyruvic acid dioxygenase deficiency|4-HPPD deficiency|4-alpha-hydroxyphenylpyruvate hydroxylase deficiency|hawkinsinuria	http://purl.obolibrary.org/obo/MONDO_0007700	Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine.	DOID:0111362|SNOMEDCT:414380008|http://identifiers.org/omim/140350|UMLS:C2931042|MESH:C535845|ORPHA:2118
MONDO:0007701	progressive familial heart block type II	biolink:Disease	mondo	DOID:0111075|GARD:0004879|OMIM:140400|MESH:C564202|ICD9:426.6|SCTID:698251009	gard_rare	PFHBII|progressive familial heart block, type II|progressive familial heart block, type II; PFHB2|heart block progressive familial type 2|progressive familial heart block type 2|PFHB2	http://purl.obolibrary.org/obo/MONDO_0007701		DOID:0111075|http://identifiers.org/omim/140400|MESH:C564202|SNOMEDCT:698251009
HGNC:2745	DDX3X	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2745		
CHEBI:33558	alpha-amino-acid anion	biolink:ChemicalSubstance	mondo			alpha-amino-acid anions|alpha-amino-acid anion|alpha-amino acid anions	http://purl.obolibrary.org/obo/CHEBI_33558	An amino-acid anion obtained by deprotonation of any alpha-amino acid.	
CHEBI:33559	s-block element atom	biolink:ChemicalSubstance	mondo			s-block elements|s-block element	http://purl.obolibrary.org/obo/CHEBI_33559		
UBERON:0016565	cerebral blood vessel	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0016565	A blood vessel that is part of a cerebellum.	
UBERON:0016566	pit	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0016566	An roughly circular indentation in a surface.	
CHEBI:33552	sulfonic acid derivative	biolink:ChemicalSubstance	mondo			derivatives of sulfonic acid|sulfonic acid derivative|sulfonic acid derivatives	http://purl.obolibrary.org/obo/CHEBI_33552		
UBERON:0004581	systemic venous system	biolink:AnatomicalEntity	mondo			systemic venous circulatory system	http://purl.obolibrary.org/obo/UBERON_0004581	The part of the venous system that drains the general body tissues[Kardong]	
UBERON:0004582	venous system	biolink:AnatomicalEntity	mondo			vein system	http://purl.obolibrary.org/obo/UBERON_0004582	The part of the cardiovascular system consisting of all venous vessels. In vertebrates with a double circulation, this can be divided into systemic and pulmonary portions.	
MONDO:0007717	hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain	biolink:Disease	mondo	OMIM:142309|UMLS:C1840647		HEMOGLOBIN--variants FOR which the chain carrying the mutation IS unknown or uncertain	http://purl.obolibrary.org/obo/MONDO_0007717		http://identifiers.org/omim/142309|UMLS:C1840647
UBERON:0016550	spinal cord column	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0016550		
MONDO:0007718	hepatic adenomas, familial	biolink:Disease	mondo	MESH:C564190|OMIM:142330|UMLS:C1840646|DOID:0111366		hepatic adenomas, familial|liver cell adenomas, familial	http://purl.obolibrary.org/obo/MONDO_0007718		http://identifiers.org/omim/142330|DOID:0111366|MESH:C564190|UMLS:C1840646
MONDO:0007715	hemolytic poikilocytic anemia due to reduced ankyrin binding sites	biolink:Disease	mondo	UMLS:C1841622|MESH:C564197|OMIM:141700		hemolytic poikilocytic anemia due to reduced ankyrin binding sites	http://purl.obolibrary.org/obo/MONDO_0007715		http://identifiers.org/omim/141700|MESH:C564197|UMLS:C1841622
UBERON:0016552	phlegm	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0016552	mucus produced in the respiratory tract.	
MONDO:0007716	alpha thalassemia-intellectual disability syndrome type 1	biolink:Disease	mondo	ICD10:D56.0|Orphanet:98791|ICD9:282.49|DOID:0110029|UMLS:C0475813|UMLS:C0795917|OMIM:141750|MESH:C563050|SCTID:277918006	ordo_disease	ATR-16 syndrome|alpha-thalassemia/intellectual disability syndrome, deletion-type|ATR syndrome linked to chromosome 16|ALPHA-thalassemia/mental retardation syndrome, chromosome 16-related|Alpha thalassemia-mental retardation syndrome|Alpha-thalassemia/mental retardation syndrome, deletion-type|Hemoglobin H-related intellectual disability|alpha-thalassemia/intellectual disability syndrome, type 1|mental retardation with Hemoglobin H|Hemoglobin H-related mental retardation|alpha-thalassemia-intellectual disability syndrome linked to chromosome 16|alpha-thalassemia/mental retardation syndrome, deletion-type|Alpha thalassemia-intellectual disability syndrome, deletion type|Alpha-thalassemia-intellectual disability syndrome linked to chromosome type 16|intellectual disability with Hemoglobin H|alpha thalassemia-retardation syndrome|alpha-thalassemia/mental retardation syndrome, type 1|ATR, deletion-type|ATR syndrome, deletion type|chromosome 16P deletion syndrome|ALPHA-thalassemia/intellectual disability syndrome, chromosome 16-related|Alpha thalassemia-intellectual disability syndrome|alpha thalassemia-intellectual disability syndrome, deletion type|Alpha-thalassemia/intellectual disability syndrome, deletion-type	http://purl.obolibrary.org/obo/MONDO_0007716	Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.	UMLS:C0795917|SNOMEDCT:277918006|ORPHA:98791|DOID:0110029|http://identifiers.org/omim/141750|MESH:C563050|UMLS:C0475813
UBERON:0016551	subdivision of spinal cord ventral column	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0016551		
MONDO:0007713	clonic hemifacial spasm	biolink:Disease	mondo	UMLS:C1841639|OMIM:141405|COHD:4160055|MESH:C564198|UMLS:C3536936|ICD10:G51.3|Orphanet:221083	ordo_disease	hemifacial spasm|hemifacial spasm, familial|focal myoclonus of face|facial hemispasm	http://purl.obolibrary.org/obo/MONDO_0007713		http://identifiers.org/omim/141405|MESH:C564198|UMLS:C1841639|ORPHA:221083|UMLS:C3536936
MONDO:0007714	obsolete migraine, familial hemiplegic, 1	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0007714		
MONDO:0007711	Bencze syndrome	biolink:Disease	mondo	GARD:0002633|ICD10:Q67.4|MESH:C564199|OMIM:141350|SCTID:733046006|Orphanet:1241|UMLS:C1841640	ordo_malformation_syndrome|gard_rare	hemifacial hyperplasia strabismus|hemifacial hyperplasia-strabismus syndrome|Bencze syndrome|hemifacial hyperplasia with strabismus	http://purl.obolibrary.org/obo/MONDO_0007711	Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979.	ORPHA:1241|http://identifiers.org/omim/141350|MESH:C564199|SNOMEDCT:733046006|UMLS:C1841640
MONDO:0007712	oculoauriculovertebral spectrum with radial defects	biolink:Disease	mondo	OMIM:141400|SCTID:726722009|GARD:0003653|Orphanet:2549|ICD10:Q75.8	ordo_malformation_syndrome	oculoauriculovertebral spectrum with radial defect|Moeschler-Clarren syndrome|Goldenhar syndrome with ipsilateral radial defect|microsomia hemifacial radial defects|hemifacial microsomia-radial defects syndrome|hemifacial microsomia with radial defects|Oavs with radial defect|Moeschler Clarren syndrome	http://purl.obolibrary.org/obo/MONDO_0007712	Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.	ORPHA:2549|http://identifiers.org/omim/141400|UMLS:C0220681|SNOMEDCT:726722009
MONDO:0007710	facial hemiatrophy	biolink:Disease	mondo	SCTID:718224004|ICD10:G51.8|GARD:0007338|UMLS:C0015458|DOID:1757|NCIT:C116916|OMIM:141300|Orphanet:1214|MESH:D005150	ordo_disease	HFA|hemifacial atrophy|parry-Romberg syndrome|hemifacial atrophy, progressive; HFA|progressive hemifacial atrophy|hemifacial atrophy, progressive|PHA|progressive facial hemiatrophy|Romberg syndrome|Romberg hemi-facial atrophy	http://purl.obolibrary.org/obo/MONDO_0007710	Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved.	http://identifiers.org/omim/141300|NCIT:C116916|MESH:D005150|SNOMEDCT:718224004|DOID:1757|NCIT:C84703|UMLS:C0015458|ORPHA:1214
UBERON:0016554	white matter of midbrain	biolink:AnatomicalEntity	mondo			mesencephalic white matter	http://purl.obolibrary.org/obo/UBERON_0016554	A white matter that is part of the midbrain.	
UBERON:0016553	respiratory system mucus	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0016553	Any mucus produced by a mucosae of the respiratory system. This includes the mucus produced in the nasal cavity (nasal mucus) and mucus produced in the respiratory tract (phlegm).	
CHEBI:33561	d-block element atom	biolink:ChemicalSubstance	mondo			d-block element|d-block elements	http://purl.obolibrary.org/obo/CHEBI_33561		
UBERON:0004572	arterial system	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004572	The part of the cardiovascular system consisting of all arteries.	
UBERON:0004573	systemic artery	biolink:AnatomicalEntity	mondo			systemic arterial subtree	http://purl.obolibrary.org/obo/UBERON_0004573	An artery of the systemic circulation, which is the part of the cardiovascular system which carries oxygenated blood away from the heart, to the body, and returns deoxygenated blood back to the heart.	
CHEBI:33563	glycolipid	biolink:ChemicalSubstance	mondo			glycolipids|Glycolipid	http://purl.obolibrary.org/obo/CHEBI_33563	Any member of class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). Some substances classified as bacterial glycolipids have the sugar part acylated by one or more fatty acids and the glycerol part may be absent.	
UBERON:0004571	systemic arterial system	biolink:AnatomicalEntity	mondo			systemic arterial circulatory system	http://purl.obolibrary.org/obo/UBERON_0004571	The part of the arterial system which carries oxygenated blood away from the heart to the body, and returns deoxygenated blood back to the heart.	
MONDO:0007708	Kasabach-Merritt syndrome	biolink:Disease	mondo	NCIT:C3821|MedDRA:10058423|GARD:0000070|OMIM:141000|MESH:D059885|SCTID:86635005|Orphanet:2330|ICD10:D18.0|UMLS:C0221025|ICD9:287.39	ordo_clinical_situation|gard_rare	hemangioma-hemorrhage syndrome|hemangioma-thrombocytopenia syndrome|hemangiomatosis with thrombocytopenia|Kasabach Merritt phenomenon|hemangioma thrombocytopenia syndrome|thrombocytopenia-hemangioma syndrome|KMP|thrombopenia-hemangioma syndrome|Kasabach-Merritt syndrome|Kasabach Merritt syndrome	http://purl.obolibrary.org/obo/MONDO_0007708	Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma.	NCIT:C3821|ORPHA:2330|http://identifiers.org/omim/141000|UMLS:C0221025|MEDDRA:10058423|SNOMEDCT:86635005|MESH:D059885
MONDO:0007709	hematuria, benign familial	biolink:Disease	mondo	DOID:0111365|OMIM:141200|MESH:C562476		thin-basement-membrane nephropathy|thin membrane nephropathy|hematuria, benign familial; BFH|BFH|hematuria, benign familial	http://purl.obolibrary.org/obo/MONDO_0007709		http://identifiers.org/omim/141200|DOID:0111365|MESH:C562476
CHEBI:33560	p-block element atom	biolink:ChemicalSubstance	mondo			p-block element|p-block elements	http://purl.obolibrary.org/obo/CHEBI_33560	Any main group element atom belonging to the p-block of the periodic table.	
UBERON:0016540	occipital cortex	biolink:AnatomicalEntity	mondo			cortex of occipital lobe|gray matter of occipital lobe|occipital lobe cortex|occipital neocortex	http://purl.obolibrary.org/obo/UBERON_0016540		
PATO:0002007	convex 3-D shape	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0002007	A complete three dimensional shape in which for every line connecting pair of points on the object is within the object. Or: a shape lacking cavities. Contrast: concave.	
UBERON:0016549	central nervous system white matter layer	biolink:AnatomicalEntity	mondo			white matter layer of neuraxis|CNS white matter layer|white matter layer	http://purl.obolibrary.org/obo/UBERON_0016549	A layer of of the central nervous system that is composed of white matter.	
PATO:0002005	concavity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0002005	Surface shape that refers to the inward or outward curvature of the surface.	
UBERON:0016548	central nervous system gray matter layer	biolink:AnatomicalEntity	mondo			CNS gray matter layer|grey matter layer of neuraxis|gray matter layer of neuraxis|CNS grey matter layer|grey matter layer	http://purl.obolibrary.org/obo/UBERON_0016548	A layer of of the central nervous system that is part of gray matter.	
PATO:0002006	2-D shape	biolink:OntologyClass	mondo			2-D projection|cross-sectional	http://purl.obolibrary.org/obo/PATO_0002006	A shape that inheres in a 2 dimensional entity, such as a cross section or projection of a 3 dimensional entity.	
UBERON:0016542	limbic cortex	biolink:AnatomicalEntity	mondo			cortex of limbic lobe|gray matter of limbic lobe|limbic lobe cortex	http://purl.obolibrary.org/obo/UBERON_0016542		
PATO:0002009	branchiness	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0002009	A shape quality inhering in a bearer by virtue of the degree to which there are subdivisions or offshoots in a bearer entity.	
UBERON:0016545	pharyngeal ectoderm	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0016545	The external part of the developing pharynx that is made of ectoderm. During vertebrate development, pockets form in pharyngeal ectoderm between the pharyngeal arches.	
CHEBI:57504	L-dopa zwitterion	biolink:ChemicalSubstance	mondo			(2S)-2-ammonio-3-(3,4-dihydroxyphenyl)propanoate|L-dopa|(2S)-2-azaniumyl-3-(3,4-dihydroxyphenyl)propanoate	http://purl.obolibrary.org/obo/CHEBI_57504	An amino acid zwitterion obtained from the transfer of a proton from the carboxy group to the amino group of L-dopa. Major microspecies at pH 7.3.	
HGNC:2771	CFD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2771		
HGNC:2770	DES	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2770		
UBERON:0016530	parietal cortex	biolink:AnatomicalEntity	mondo			parietal lobe cortex|parietal neocortex|cortex of parietal lobe|gray matter of parietal lobe	http://purl.obolibrary.org/obo/UBERON_0016530	Gray matter of the parietal region of the neocortex, located in the parietal lobe of gyrencephalic animals. It is continuous anteriorly with the frontal cortex, posteriorly with the occipital cortex and medially with the insular cortex and with the temporal cortex on the posterior/inferior border.	
UBERON:0004549	right eye	biolink:AnatomicalEntity	mondo			right orbital region|right orbital part of face|right eyeball	http://purl.obolibrary.org/obo/UBERON_0004549	An eye that is part of a right side of organism [Automatically generated definition].	
UBERON:0016536	white matter of limbic lobe	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0016536	A white matter of cerebral lobe that is part of a limbic lobe.	
UBERON:0016535	white matter of occipital lobe	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0016535	A white matter of cerebral lobe that is part of a occipital lobe.	
UBERON:0016538	temporal cortex	biolink:AnatomicalEntity	mondo			gray matter of temporal lobe|temporal lobe cortex|temporal neocortex|cortex of temporal lobe	http://purl.obolibrary.org/obo/UBERON_0016538	Gray matter of the temporal region of the neocortex, located in the temporal lobe in gyrencephalic animals	
UBERON:0016531	white matter of parietal lobe	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0016531	A white matter of cerebral lobe that is part of a parietal lobe.	
UBERON:0016534	white matter of temporal lobe	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0016534	A white matter of cerebral lobe that is part of a temporal lobe.	
UBERON:0004550	gastroesophageal sphincter	biolink:AnatomicalEntity	mondo			cardiac sphincter|gastro-oesophageal junction|esophageal sphincter%2c lower|gastroesophageal sphincter|inferior esophageal sphincter|esophageal-cardiac junction|gastro-esophageal sphincter|esophagogastric junction|gastroesophageal sphincter muscle|esophageal sphincter|lower esophageal sphincter|gastro-esophageal junction|cardiac sphincter|gastroesophageal sphincter|gastroesophageal junction|constrictor cardiae|LES	http://purl.obolibrary.org/obo/UBERON_0004550	the thick circular layer of smooth gastric musculature encircling the gastroesophageal junction that functions to reduce backflow into the esophagus from the stomach	
PATO:0002011	neoplastic	biolink:OntologyClass	mondo			tumorous	http://purl.obolibrary.org/obo/PATO_0002011	A structural quality which is held by a bearer when the latter's disposition the presence of abnormally proliferating masses of cells.	
UBERON:0016529	cortex of cerebral lobe	biolink:AnatomicalEntity	mondo			gray matter of lobe of cerebral hemisphere|cortex of cerebral hemisphere lobe|neocortical part of cerebral hemisphere|cortex of lobe of cerebral hemisphere	http://purl.obolibrary.org/obo/UBERON_0016529	Grey matter neocortex region of a lobe of the cerebral hemisphere.	
PATO:0002014	structure, cavities	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0002014	A structural quality that inheres in a bearer by virtue of the bearer's containing hollow areas.	
CHEBI:33543	sulfonate	biolink:ChemicalSubstance	mondo			sulfonates|hydridotrioxidosulfate(1-)|SHO3(-)|[SHO3](-)	http://purl.obolibrary.org/obo/CHEBI_33543	The sulfur oxoanion formed by deprotonation of sulfonic acid.	
UBERON:0016528	white matter of frontal lobe	biolink:AnatomicalEntity	mondo			frontal lobe white matter	http://purl.obolibrary.org/obo/UBERON_0016528	A white matter of cerebral lobe that is part of a frontal lobe.	
UBERON:0004554	hindlimb digital artery	biolink:AnatomicalEntity	mondo			hindlimb digital arteries|digital artery of foot	http://purl.obolibrary.org/obo/UBERON_0004554	A digital artery that is part of a hindlimb [Automatically generated definition].	
UBERON:0004552	digital artery	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004552	An artery that is part of a digit [Automatically generated definition].	
UBERON:0004553	forelimb digital artery	biolink:AnatomicalEntity	mondo			forelimb digital arteries|digital artery of manus|wing digital artery	http://purl.obolibrary.org/obo/UBERON_0004553	A digital artery that is part of a forelimb [Automatically generated definition].	
HP:0100247	Recurrent singultus	biolink:PhenotypicFeature	mondo	MSH:D006606|SNOMEDCT_US:65958008|UMLS:C0744897|UMLS:C0019521		Hiccups|Recurrent hiccough|Recurrent synchronous diaphragmatic flutter|Hiccup|Recurrent hiccup	http://purl.obolibrary.org/obo/HP_0100247	A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc.	
GO:0019693	ribose phosphate metabolic process	biolink:OntologyClass	mondo			ribose phosphate metabolism	http://purl.obolibrary.org/obo/GO_0019693	The chemical reactions and pathways involving ribose phosphate, any phosphorylated ribose sugar.	
HP:0100257	Ectrodactyly	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:81208006|UMLS:C0265554|MSH:C574275|SNOMEDCT_US:13624003	hposlim_core	Cleft hand|Lobster claw hand	http://purl.obolibrary.org/obo/HP_0100257	A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet.	
HP:0100255	Metaphyseal dysplasia	biolink:PhenotypicFeature	mondo	UMLS:C0265294|SNOMEDCT_US:27837003|MSH:C536252			http://purl.obolibrary.org/obo/HP_0100255	The presence of dysplastic regions in metaphyseal regions.	
GO:0030003	cellular cation homeostasis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0030003	Any process involved in the maintenance of an internal steady state of cations at the level of a cell.	
GO:0030001	metal ion transport	biolink:OntologyClass	mondo			heavy metal ion transport|divalent metal ion transport	http://purl.obolibrary.org/obo/GO_0030001	The directed movement of metal ions, any metal ion with an electric charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
HGNC:20499	L2HGDH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20499		
HP:0100267	Lip pit	biolink:PhenotypicFeature	mondo	UMLS:C0341059	hposlim_core		http://purl.obolibrary.org/obo/HP_0100267	A depression located on a lip.	
HP:0100261	Abnormal tendon morphology	biolink:PhenotypicFeature	mondo	UMLS:C4021026		Abnormality of the sinew|Abnormal shape of tendon	http://purl.obolibrary.org/obo/HP_0100261	An abnormality of the structure or form of the tendons, also often called sinews.	
HGNC:20492	COA8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20492		
GO:0032649	regulation of interferon-gamma production	biolink:OntologyClass	mondo			regulation of interferon-gamma biosynthetic process|regulation of type II interferon production|regulation of interferon-gamma secretion	http://purl.obolibrary.org/obo/GO_0032649	Any process that modulates the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon.	
NCBITaxon:2499398	Arnidovirineae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2499398		
HP:0100276	Skin pit	biolink:PhenotypicFeature	mondo	UMLS:C4022172|UMLS:C4020712		Skin pits|Skin pit	http://purl.obolibrary.org/obo/HP_0100276	A small, skin-lined tract that leads from the surface to deep within the tissues.	
RO:0002022	directly regulated by	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002022		
RO:0002023	directly negatively regulated by	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002023	Process(P2) is directly negatively regulated by process(P1) iff: P1 negatively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2).  For example, if protein A has protein binding activity(P1) that targets protein B and this binding  negatively regulates the kinase activity (P2) of protein B then P2 directly negatively regulated by P1.	
GO:0044699		biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0044699		
RO:0002024	directly positively regulated by	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002024	Process(P2) is directly postively regulated by process(P1) iff: P1 positively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2).  For example, if protein A has protein binding activity(P1) that targets protein B and this binding positively regulates the kinase activity (P2) of protein B then P2 is directly postively regulated by P1.	
RO:0002025	has effector activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002025	A 'has effector activity' B if A and B are GO molecular functions (GO_0003674),  A 'has component activity' B and B is the effector (output function) of B.  Each compound function has only one effector activity.	
RO:0002019	has ligand	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002019	A relationship that holds between between a receptor and an chemical entity, typically a small molecule or peptide, that carries information between cells or compartments of a cell and which binds the receptor and regulates its effector function.	
RO:0002015	has positive regulatory component activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002015	A relationship that holds between a GO molecular function and a component of that molecular function that positively regulates the activity of the whole.  More formally, A 'has regulatory component activity' B iff :A and B are GO molecular functions (GO_0003674), A has_component B and A is positively regulated by B.	
RO:0002017	has component activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002017		
RO:0002018	has component process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002018	w 'has process component' p if p and w are processes,  w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type.	
NCBITaxon:2499399	Cornidovirineae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2499399		
HGNC:20473	BRIP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20473		
HGNC:20474	TMC8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20474		
RO:0002013	has regulatory component activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002013	A 'has regulatory component activity' B if A and B are GO molecular functions (GO_0003674), A has_component B and A is regulated by B.	
RO:0002014	has negative regulatory component activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002014	A relationship that holds between a GO molecular function and a component of that molecular function that negatively regulates the activity of the whole.  More formally, A 'has regulatory component activity' B iff :A and B are GO molecular functions (GO_0003674), A has_component B and A is negatively regulated by B.	
MONDO:0032591	hyperparathyroidism, transient neonatal	biolink:Disease	mondo	OMIM:618188		HYPERPARATHYROIDISM, TRANSIENT NEONATAL; HRPTTN	http://purl.obolibrary.org/obo/MONDO_0032591		http://identifiers.org/omim/618188
MONDO:0032592	cardiomyopathy, dilated, 2c	biolink:Disease	mondo	OMIM:618189		CARDIOMYOPATHY, DILATED, 2C; CMD2C	http://purl.obolibrary.org/obo/MONDO_0032592		http://identifiers.org/omim/618189
MONDO:0032590	ovarian dysgenesis 8	biolink:Disease	mondo	OMIM:618187|DOID:0080500		OVARIAN DYSGENESIS 8; ODG8	http://purl.obolibrary.org/obo/MONDO_0032590		DOID:0080500|http://identifiers.org/omim/618187
RO:0002005	innervated_by	biolink:OntologyClass	mondo			nerve supply	http://purl.obolibrary.org/obo/RO_0002005		
RO:0002007	bounding layer of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002007	X outer_layer_of Y iff: . X :continuant that bearer_of some PATO:laminar . X part_of Y . exists Z :surface . X has_boundary Z . Z boundary_of Y  has_boundary: http://purl.obolibrary.org/obo/RO_0002002 boundary_of: http://purl.obolibrary.org/obo/RO_0002000	
MONDO:0032599	immunodeficiency 15a	biolink:Disease	mondo	OMIM:618204		IMMUNODEFICIENCY 15A; IMD15A	http://purl.obolibrary.org/obo/MONDO_0032599		http://identifiers.org/omim/618204
MONDO:0032597	myasthenic syndrome, congenital, 24, presynaptic	biolink:Disease	mondo	OMIM:618198		MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC; CMS24	http://purl.obolibrary.org/obo/MONDO_0032597		http://identifiers.org/omim/618198
MONDO:0032598	developmental and epileptic encephalopathy, 68	biolink:Disease	mondo	OMIM:618201		DEE68|epileptic encephalopathy, early infantile, 68|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68; EIEE68	http://purl.obolibrary.org/obo/MONDO_0032598		http://identifiers.org/omim/618201
UBERON:0006800	anatomical line	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006800	Non-material anatomical entity of one dimension, which forms a boundary of an anatomical surface or is a modulation of an anatomical surface.	
MONDO:0032596	myasthenic syndrome, congenital, 23, presynaptic	biolink:Disease	mondo	OMIM:618197		MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC; CMS23	http://purl.obolibrary.org/obo/MONDO_0032596		http://identifiers.org/omim/618197
MONDO:0032594	intellectual developmental disorder and retinitis pigmentosa; IDDRP	biolink:Disease	mondo	OMIM:618195		INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA; IDDRP	http://purl.obolibrary.org/obo/MONDO_0032594		http://identifiers.org/omim/618195
OBO:mondo#DUBIOUS	dubious synonym	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/mondo#DUBIOUS		
HP:0100299	Muscle fiber inclusion bodies	biolink:PhenotypicFeature	mondo	UMLS:C4022159		Muscle fibre inclusion bodies	http://purl.obolibrary.org/obo/HP_0100299		
RO:0002000	2D boundary of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002000	a relation between a 2D immaterial entity (the boundary) and a material entity, in which the boundary delimits the material entity	
RO:0002002	has boundary	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002002	a relation between a material entity and a 2D immaterial entity (the boundary), in which the boundary delimits the material entity	
CHEBI:140503	kaolin	biolink:ChemicalSubstance	mondo			porcelain clay|argilla|white bole|Bolus alba|China clay	http://purl.obolibrary.org/obo/CHEBI_140503	An aluminosilicate soft white mineral named after the hill in China (Kao-ling) from which it was mined for centuries. In its natural state kaolin is a white, soft powder consisting principally of the mineral kaolinite, and varying amounts of other minerals such as muscovite, quartz, feldspar, and anatase. It is used in the manufacture of china and porcelain and also widely used in the production of paper, rubber, paint, drying agents, and many other products.	
HGNC:32456	ALG11	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/32456		
GO:0042060	wound healing	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0042060	The series of events that restore integrity to a damaged tissue, following an injury.	
GO:0042068	regulation of pteridine metabolic process	biolink:OntologyClass	mondo			regulation of pteridine metabolism	http://purl.obolibrary.org/obo/GO_0042068	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving pteridine.	
GO:0042069	regulation of catecholamine metabolic process	biolink:OntologyClass	mondo			regulation of catecholamine metabolism	http://purl.obolibrary.org/obo/GO_0042069	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving catecholamines.	
CHEBI:33497	transition element molecular entity	biolink:ChemicalSubstance	mondo			transition metal molecular entity|transition element molecular entities	http://purl.obolibrary.org/obo/CHEBI_33497	A molecular entity containing one or more atoms of a transition element.	
GO:0019637	organophosphate metabolic process	biolink:OntologyClass	mondo			organophosphate metabolism	http://purl.obolibrary.org/obo/GO_0019637	The chemical reactions and pathways involving organophosphates, any phosphate-containing organic compound.	
HGNC:20449	PADI6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20449		
GO:0042073	intraciliary transport	biolink:OntologyClass	mondo			intraflagellar transport involved in cilium organization|intraflagellar transport|IFT|intraflagellar transport involved in microtubule-based flagellum organisation	http://purl.obolibrary.org/obo/GO_0042073	The bidirectional movement of large protein complexes along microtubules within a cilium, mediated by motor proteins.	
GO:0032609	interferon-gamma production	biolink:OntologyClass	mondo			type II IFN production|IFNG production|interferon-gamma biosynthetic process|type II interferon production|interferon-gamma secretion	http://purl.obolibrary.org/obo/GO_0032609	The appearance of interferon-gamma due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. Interferon-gamma is also known as type II interferon.	
HGNC:32434	SLC38A8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/32434		
HGNC:19440	SBDS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19440		
MONDO:0019571	autosomal dominant cutis laxa	biolink:Disease	mondo	MESH:C562627|Orphanet:90348|GARD:0001639|SCTID:111388003|UMLS:C0268350|ICD10:Q82.8|DOID:0070142	gard_rare|ordo_disease	cutis laxa, autosomal dominant|ADCL	http://purl.obolibrary.org/obo/MONDO_0019571	Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.	MESH:C562627|DOID:0070142|UMLS:C0268350|ORPHA:90348|SNOMEDCT:111388003
MONDO:0019570	Cockayne syndrome type 2	biolink:Disease	mondo	ICD10:Q87.8|GARD:0001420|UMLS:C0751038|OMIM:133540|Orphanet:90322|NCIT:C135726	ordo_clinical_subtype	Cockayne syndrome B; CSB|Cockayne syndrome type 2|Cockayne syndrome type II|Cockayne syndrome B|CSB|Cockayne syndrome type B	http://purl.obolibrary.org/obo/MONDO_0019570	Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6.	http://identifiers.org/omim/133540|NCIT:C135726|ORPHA:90322|UMLS:C0751038
MONDO:0007588	extrasystoles-short stature-hyperpigmentation-microcephaly syndrome	biolink:Disease	mondo	MESH:C565032|Orphanet:1964|OMIM:133750|UMLS:C1851412	ordo_malformation_syndrome	extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly|Char-Douglas-Dungan syndrome	http://purl.obolibrary.org/obo/MONDO_0007588	Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975.	http://identifiers.org/omim/133750|UMLS:C1851412|MESH:C565032|ORPHA:1964
MONDO:0020566	obsolete Klatskin tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0020566		
MONDO:0007589	exudative vitreoretinopathy 1	biolink:Disease	mondo	DOID:0111412|UMLS:C1851402|MESH:C536382|OMIM:133780		exudative vitreoretinopathy 1|Fevr, autosomal dominant|retinopathy of prematurity|Criswick-Schepens syndrome|EVR1|exudative vitreoretinopathy type 1|exudative vitreoretinopathy, familial, autosomal dominant|exudative vitreoretinopathy 1; EVR1	http://purl.obolibrary.org/obo/MONDO_0007589		DOID:0111412|http://identifiers.org/omim/133780|UMLS:C1851402|MESH:C536382
MONDO:0020565	obsolete adenocarcinoma of esophagus	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0020565		
MONDO:0007586	exostoses, multiple, type 2	biolink:Disease	mondo	OMIM:133701|NCIT:C18252|GARD:0002205|UMLS:C1851413	gard_rare	exostoses, multiple, type II|EXT2 Gene|exostoses, multiple caused by mutation in EXT2|exostoses (Multiple) 2 Gene|EXT2 exostoses, multiple|Ext2	http://purl.obolibrary.org/obo/MONDO_0007586	This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes.	http://identifiers.org/omim/133701|UMLS:C1851413|NCIT:C18252
MONDO:0020564	obsolete well-differentiated liposarcoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0020564		
MONDO:0020563	Dedifferentiated liposarcoma	biolink:Disease	mondo	ICD9:171.9|ICD10:C49.9|NCIT:C3704|UMLS:C0205824|ONCOTREE:DDLS|DOID:0080531|SCTID:404072004|ICDO:8858/3|Orphanet:99970|EFO:0003085	ordo_histopathological_subtype	DDLS|Dedifferentiated liposarcoma	http://purl.obolibrary.org/obo/MONDO_0020563	Dedifferentiated liposarcoma (DDLS) is a high-grade subtype of liposarcoma (LS) that progresses from well-differentiated liposarcoma (WDLS), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS.	NCIT:C3704|DOID:0080531|ORPHA:99970|SNOMEDCT:404072004|UMLS:C0205824
MONDO:0007587	external auditory canal atresia-vertical talus-hypertelorism syndrome	biolink:Disease	mondo	UMLS:C2930867|Orphanet:3023|GARD:0004638|OMIM:133705|ICD10:Q87.8	ordo_malformation_syndrome	Rasmussen-Johnsen-Thomsen syndrome|Rasmussen syndrome|Rasmussen Johnsen Thomsen syndrome|external auditory canal, bilateral atresia of, with congenital vertical talus|inherited congenital bilateral atresia of the external auditory canal, congenital bilateral vertical talus and increased interocular distance	http://purl.obolibrary.org/obo/MONDO_0007587		http://identifiers.org/omim/133705|ORPHA:3023|UMLS:C2930867|MESH:C535290
MONDO:0020562	pleomorphic liposarcoma	biolink:Disease	mondo	EFO:0003083|ICD9:171.9|Orphanet:99969|ICD10:C49.9|UMLS:C0205825|SCTID:404071006|DOID:5702|ONCOTREE:PLLS|NCIT:C3705|ICDO:8854/3	ordo_histopathological_subtype	pleomorphic liposarcoma|pleomorphic liposarcoma (morphologic abnormality)|PLLS|PLS	http://purl.obolibrary.org/obo/MONDO_0020562	Pleomorphic liposarcoma (PLS), the rarest subtype of liposarcoma (LS), is an aggressive, fast growing tumor located usually in the deep soft tissues of the lower and upper extremities. It is characterized by a variable number of pleomorphic lipoblasts and, in contrast to dedifferentiated liposarcoma, it lacks any association with well-differentiated liposarcoma.	NCIT:C3705|ORPHA:99969|DOID:5702|SNOMEDCT:404071006|UMLS:C0205825
MONDO:0007584	exostoses-anetodermia-brachydactyly type E syndrome	biolink:Disease	mondo	ICD10:Q87.5|UMLS:C1851428|OMIM:133690|Orphanet:1962|MESH:C565034	ordo_malformation_syndrome	exostoses with anetodermia and brachydactyly, type E	http://purl.obolibrary.org/obo/MONDO_0007584	Exostoses-anetodermia-brachydactyly type E syndrome is an association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985.	http://identifiers.org/omim/133690|UMLS:C1851428|MESH:C565034|ORPHA:1962
MONDO:0020561	myxoid/round cell liposarcoma	biolink:Disease	mondo	ICD10:C49.9|Orphanet:99967|ONCOTREE:MRLS	ordo_histopathological_subtype	MRCLS|myxoid/round-cell liposarcoma	http://purl.obolibrary.org/obo/MONDO_0020561	Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS.	ORPHA:99967|UMLS:C0206634
MONDO:0007585	exostoses, multiple, type 1	biolink:Disease	mondo	OMIM:133700|GARD:0002204	gard_rare	multiple osteochondromas|osteochondromatosis|exostoses, multiple, type I|diaphyseal Aclasis|exostoses, multiple caused by mutation in EXT1|EXT|EXT1 exostoses, multiple|multiple cartilaginous exostoses	http://purl.obolibrary.org/obo/MONDO_0007585	Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene.	http://identifiers.org/omim/133700
MONDO:0020560	atypical teratoid rhabdoid tumor	biolink:Disease	mondo	EFO:1002008|DOID:2129|ONCOTREE:ATRT|Orphanet:99966|ICDO:9508/3|NCIT:C6906|UMLS:C1266184|ICD10:C49.9|UMLS:CN207484	ordo_clinical_subtype	atypical teratoid/rhabdoid tumor (WHO grade IV)|rhabdoid neoplasm of CNS|malignant rhabdoid neoplasm of the brain|ATRT|primary malignant brain rhabdoid tumor|malignant rhabdoid neoplasm of brain|atypical teratoid/rhabdoid tumor|CNS rhabdoid tumor|rhabdoid tumor of CNS|primary malignant rhabdoid neoplasm of the brain|primary malignant rhabdoid tumor of the brain|primary malignant rhabdoid neoplasm of brain|central nervous system rhabdoid neoplasm|CNS rhabdoid neoplasm|primary malignant rhabdoid tumor of brain|primary malignant brain rhabdoid neoplasm|AT/RT|malignant rhabdoid tumor of the brain|malignant rhabdoid tumor of brain|atypical teratoid/rhabdoid tumor (morphologic abnormality)|ATT/RHT|malignant brain rhabdoid neoplasm|AT/RT|rhabdoid tumor of central nervous system|rhabdoid tumor predisposition syndrome|rhabdoid tumor of the central nervous system|central nervous system rhabdoid tumor|rhabdoid neoplasm of central nervous system|rhabdoid neoplasm of the central nervous system|malignant brain rhabdoid tumor|rhabdoid tumor of the CNS|rhabdoid neoplasm of the CNS	http://purl.obolibrary.org/obo/MONDO_0020560	Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children.	UMLS:C1266184|ORPHA:99966|UMLS:CN207484|DOID:2129|NCIT:C6906
MONDO:0007582	obsolete Cockayne syndrome B	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0007582		
MONDO:0007583	exostoses of heel	biolink:Disease	mondo	UMLS:C0877431|OMIM:133600|MESH:C563167		exostoses of heel	http://purl.obolibrary.org/obo/MONDO_0007583		UMLS:C0877431|http://identifiers.org/omim/133600|MESH:C563167
MONDO:0007580	esterase ES-2, regulator for	biolink:Disease	mondo	OMIM:133300		esterase ES-2, regulator for	http://purl.obolibrary.org/obo/MONDO_0007580		http://identifiers.org/omim/133300
MONDO:0007581	exchondrosis of pinna, posterior	biolink:Disease	mondo	OMIM:133500|UMLS:C1851463|MESH:C565036		exchondrosis of pinna, posterior|Ear bump	http://purl.obolibrary.org/obo/MONDO_0007581		http://identifiers.org/omim/133500|UMLS:C1851463|MESH:C565036
MONDO:0020559	O'Sullivan-McLeod syndrome	biolink:Disease	mondo	ICD10:G12.8|UMLS:C2721741|Orphanet:99965|MedDRA:10069682	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0020559	O'Sullivan McLeod syndrome is a benign lower motor neuron disorder and a rare variant of monomelic amyotrophy (MA), characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period.	MEDDRA:10069682|UMLS:C2721741|ORPHA:99965
MONDO:0020558	autosomal dominant Charcot-Marie-Tooth disease type 2K	biolink:Disease	mondo	NCIT:C133886|GARD:0009199|ICD10:G60.0|Orphanet:99944|UMLS:CN207468|SCTID:719512003|UMLS:C1842984	ordo_disease	Charcot-Marie-Tooth disease type 2K|CMT2K	http://purl.obolibrary.org/obo/MONDO_0020558	Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.	SNOMEDCT:719512003|ORPHA:99944|NCIT:C133886|UMLS:CN207468|UMLS:C1842984
MONDO:0020557	pleuropulmonary blastoma type 3	biolink:Disease	mondo	ICD10:C34.3|ICD9:162.9|ICD10:C34.2|ICD10:C34.1|Orphanet:99935|SCTID:707673006|UMLS:CN207459|ICD10:C34.9|NCIT:C45628|ICD10:C34.8	ordo_clinical_subtype	type III pleuropulmonary blastoma	http://purl.obolibrary.org/obo/MONDO_0020557	A pleuropulmonary blastoma characterized by a solid pattern and sarcomatous features. It usually follows an aggressive clinical course.	ORPHA:99935|UMLS:CN207459|NCIT:C45628|SNOMEDCT:707673006
MONDO:0020556	pleuropulmonary blastoma type 2	biolink:Disease	mondo	ICD10:C34.3|ICD10:C34.2|ICD10:C34.1|ICD9:162.9|Orphanet:99934|ICD10:C34.9|ICD10:C34.8|UMLS:CN207458|SCTID:707672001|NCIT:C45627	ordo_clinical_subtype	type II pleuropulmonary blastoma	http://purl.obolibrary.org/obo/MONDO_0020556	A pleuropulmonary blastoma composed of malignant small cells and characterized by the presence of a sarcomatous component. It usually follows an aggressive clinical course.	SNOMEDCT:707672001|ORPHA:99934|UMLS:CN207458|NCIT:C45627
MONDO:0019577	anonychia-onychodystrophy syndrome	biolink:Disease	mondo	Orphanet:90390|ICD10:Q84.3|UMLS:C1862840|MESH:C536378	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0019577		ORPHA:90390|UMLS:C1862840|MESH:C536378
HP:0004394	Multiple gastric polyps	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:87252009|MSH:C562464|SNOMEDCT_US:78809005|UMLS:C0236048			http://purl.obolibrary.org/obo/HP_0004394		
MONDO:0019576	telangiectasia macularis eruptiva perstans	biolink:Disease	mondo	UMLS:C0263402|MedDRA:10043192|Orphanet:90389|ICD9:448.9|SCTID:8214000|ICD10:Q82.2	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0019576		UMLS:C0263402|MEDDRA:10043192|ORPHA:90389|SNOMEDCT:8214000
MONDO:0019579	discrete papular lichen myxedematosus	biolink:Disease	mondo	Orphanet:90394|SCTID:717258005|ICD10:L98.5|UMLS:C4273967	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019579	Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus characterized by the development of a few to multiple small symmetrical skin-coloured mucinous papules on the limbs and trunk.	SNOMEDCT:717258005|ORPHA:90394|UMLS:C4273967
GO:0030099	myeloid cell differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0030099	The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte, megakaryocyte, thrombocyte, or erythrocyte lineages.	
MONDO:0019578	nodular lichen myxedematosus	biolink:Disease	mondo	Orphanet:90393|ICD10:L98.5|SCTID:717257000|UMLS:C4273968	ordo_disease	atypical tuberous myxedema of Jadassohn-Dosseker	http://purl.obolibrary.org/obo/MONDO_0019578	Nodular lichen myxedematosus is a rare form of localized lichen myxedematosus characterized by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption.	ORPHA:90393|SNOMEDCT:717257000|UMLS:C4273968
MONDO:0019573	autosomal recessive cutis laxa type 2	biolink:Disease	mondo	ICD10:Q82.8|Orphanet:90350	ordo_group_of_disorders	cutis laxa with joint laxity and developmental delay|ARCL2	http://purl.obolibrary.org/obo/MONDO_0019573	Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, DebrC) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS).	ORPHA:90350|UMLS:C0432337
GO:0030097	hemopoiesis	biolink:OntologyClass	mondo			blood cell formation|hematopoiesis|blood cell biosynthesis|haemopoiesis	http://purl.obolibrary.org/obo/GO_0030097	The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates.	
GO:0030098	lymphocyte differentiation	biolink:OntologyClass	mondo			lymphocytic blood cell differentiation|lymphocyte cell differentiation|lymphocyte development	http://purl.obolibrary.org/obo/GO_0030098	The process in which a relatively unspecialized precursor cell acquires specialized features of a lymphocyte. A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin.	
MONDO:0019572	autosomal recessive cutis laxa type 1	biolink:Disease	mondo	Orphanet:90349|GARD:0008480|SCTID:254222002|UMLS:CN206407|PMID:19401719|GARD:8480|ICD10:Q82.8|DOID:0070144|MESH:C536225	ordo_disease	autosomal recessive cutis laxa type I|autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, type 1|cutis laxa, autosomal recessive type 1|autosomal recessive cutis laxa type 1|autosomal recessive cutis laxa, pulmonary emphysema type|ARCL1	http://purl.obolibrary.org/obo/MONDO_0019572	Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).	DOID:0070144|SNOMEDCT:254222002|ORPHA:90349|MESH:C536225|UMLS:C0432336|UMLS:CN206407
MONDO:0019575	hypotrichosis simplex of the scalp	biolink:Disease	mondo	Orphanet:90368|SCTID:717256009|ICD10:L65.8	ordo_disease	hereditary hypotrichosis simplex of the scalp	http://purl.obolibrary.org/obo/MONDO_0019575	Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp.	ORPHA:90368|SNOMEDCT:717256009
MONDO:0019574	secondary intestinal lymphangiectasia	biolink:Disease	mondo	UMLS:C4273969|SCTID:717255008|ICD10:I89.0|Orphanet:90363	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019574	Secondary intestinal lymphangiectasia is an acquired from of intestinal lymphangiectasia manifesting as a protein-losing enteropathy due to another disorder such as CrohnBs disease, congestive heart failure, sarcoidosis, Turner syndrome and often in patients who have undergone a Fontan operation. It is characterized by malabsorption, diarrhea, edema due hypoproteinemia, steatorrhea and serosal effusions.	ORPHA:90363|UMLS:C4273969|SNOMEDCT:717255008
MONDO:0019560	lupus erythematosus tumidus	biolink:Disease	mondo	ICD10:L93.2|SCTID:200941006|UMLS:C0406636|NCIT:C117112|GARD:0013003|Orphanet:90283	ordo_disease|gard_rare	let|tumid lupus erythematosus|intermittent cutaneous lupus	http://purl.obolibrary.org/obo/MONDO_0019560	Tumid erythematosus lupus is considered a rare type of chronic cutaneous lupus erythematosus. Cutaneous lupus erythematosus (CLE) can be divided into acute cutaneous lupus, subacute cutaneous lupus, and chronic cutaneous lupus. Tumid erythematosus lupus is characterized by smooth, non-scarring, pink- to violet-colored pimples (papules)on the skin without any other apparent skin changes, such as scarring. Patients with tumid lupus erythematosus usually do not have other symptoms of systemic lupus erythematosus or other types of cutaneous lupus erythematosus. The papules appear on sun-exposed areas of the face, upper back, V area of the neck, trunk, and arms, and more rarely on thighs and legs. They usually affect equally both sides of the body, but may affect only one side. Normally, the papules clear without leaving scars. The treatment is very effective in most cases, and may include sun protection, anti-malarials drugs, local corticosteroids, topical tacrolimus and light therapy.	SNOMEDCT:200941006|NCIT:C117112|ORPHA:90283|UMLS:C0406636
HGNC:20444	MBD5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20444		
FOODON:03460111	food treatment process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03460111	Used to specifically characterize a food product based on the treatment or processes applied to the product or any indexed ingredient. The processes include adding, substituting or removing components or modifying the food or component, e.g., through fermentation. Multiple values can be assigned.	
MONDO:0007599	factor 9 and Factor XI, combined deficiency of	biolink:Disease	mondo	MESH:C565022|UMLS:C1851374|OMIM:134540		factor IX and factor XI, combined deficiency OF|familial multiple coagulation Factor deficiency 6|multiple coagulation Factor deficiency 6	http://purl.obolibrary.org/obo/MONDO_0007599		http://identifiers.org/omim/134540|UMLS:C1851374|MESH:C565022
MONDO:0020555	pleuropulmonary blastoma type 1	biolink:Disease	mondo	ICD9:162.9|SCTID:707671008|ICD10:C34.9|ICD10:C34.8|Orphanet:99933|UMLS:CN207457|ICD10:C34.3|NCIT:C45626|ICD10:C34.2|ICD10:C34.1	ordo_clinical_subtype	type I pleuropulmonary blastoma	http://purl.obolibrary.org/obo/MONDO_0020555	A pleuropulmonary blastoma composed of malignant small cells. Sarcomatous features are absent.	SNOMEDCT:707671008|ORPHA:99933|UMLS:CN207457|NCIT:C45626
MONDO:0020554	Heiner syndrome	biolink:Disease	mondo	ICD9:518.89|SCTID:707441009|ICD10:E83.1+|ICD10:J99.8*|Orphanet:99932|UMLS:CN207456	ordo_clinical_subtype	cow's milk hypersensitivity	http://purl.obolibrary.org/obo/MONDO_0020554	Heiner syndrome, also called cow's milk hypersensitivity, is a food induced pulmonary hypersensiting syndrome that affects primarily infants and that is characterized by pulmonary hemosiderosis, digestive bleeding, anemia and poor growing, improving with elimination of cow's milk from the diet.	SNOMEDCT:707441009|ORPHA:99932|UMLS:CN207456
MONDO:0007597	factor VIII and Factor IX, combined deficiency of	biolink:Disease	mondo	OMIM:134510|UMLS:C1851376|MESH:C565024		factor VIII and factor IX, combined deficiency OF; F8F9D|F8F9D|factor 8 and Factor IX, combined deficiency of|factor VIII and Factor IX, combined deficiency of|familial multiple coagulation Factor deficiency 2	http://purl.obolibrary.org/obo/MONDO_0007597		http://identifiers.org/omim/134510|UMLS:C1851376|MESH:C565024
MONDO:0020553	secondary pulmonary hemosiderosis	biolink:Disease	mondo	SCTID:716712004|ICD10:E83.1+|ICD10:J99.8*|UMLS:C4274326|Orphanet:99930	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0020553	Secondary pulmonary hemosiderosis is a respiratory disease due to the deposition of hemosiderin-laden macrophages in lungs as a result of repeated alveolar hemorrhage secondary to another disease, especially dysimmunitary disorders (i.e. Heiner syndrome, autoimmune diseases), thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of hemoptysis, anemia and diffuse parenchymal infiltrates on chest radiography	UMLS:C4274326|ORPHA:99930|SNOMEDCT:716712004
MONDO:0020552	placental site trophoblastic tumor	biolink:Disease	mondo	SCTID:237252008|ICD10:D39.2|ICDO:9104/1|Orphanet:99928|MESH:D018245|UMLS:C0206666|DOID:3596|EFO:1001111|ONCOTREE:PSTT|NCIT:C3757	ordo_disease	placental-site GTT|placental site gestational trophoblastic tumor|placental-site gestational trophoblastic neoplasm|placental site trophoblastic tumor (morphologic abnormality)|placental site trophoblastic tumor|placental-site gestational trophoblastic tumor|PSST	http://purl.obolibrary.org/obo/MONDO_0020552	Placental site trophoblastic tumor is a rare gestational trophoblastic tumor (GTT) which develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage.	NCIT:C3757|ORPHA:99928|UMLS:C0206666|SNOMEDCT:237252008|DOID:3596|MESH:D018245
MONDO:0007598	factors VIII, IX and XI, combined deficiency of	biolink:Disease	mondo	OMIM:134520|UMLS:C1851375|MESH:C565023		factors VIII, IX and XI, combined deficiency of|familial multiple coagulation Factor deficiency 5|factors VIII, 9 and Xi, combined deficiency of|multiple coagulation Factor deficiency 5	http://purl.obolibrary.org/obo/MONDO_0007598		http://identifiers.org/omim/134520|UMLS:C1851375|MESH:C565023
MONDO:0020551	obsolete hydatidiform mole	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0020551		
MONDO:0007595	factor VII and Factor VIII, combined deficiency of	biolink:Disease	mondo	UMLS:C1851377|OMIM:134430|MESH:C565025		factor VII and Factor VIII, combined deficiency of|familial multiple coagulation Factor deficiency 4|multiple coagulation Factor deficiency 4|factor 7 and Factor VIII, combined deficiency of	http://purl.obolibrary.org/obo/MONDO_0007595		UMLS:C1851377|MESH:C565025|http://identifiers.org/omim/134430
MONDO:0020550	gestational choriocarcinoma	biolink:Disease	mondo	UMLS:C0349557|Orphanet:99926|ICD10:C58|SCTID:417570003|DOID:2025|ICD9:181|NCIT:C4646	ordo_disease	gestational choriocarcinoma|gestational choriocarcinoma (morphologic abnormality)|gestational chorionepithelioma|molar pregnancy with choriocarcinoma	http://purl.obolibrary.org/obo/MONDO_0020550	Gestational choriocarcinoma is a gestational trophoblastic tumor (GTT) occurring secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole.	NCIT:C4646|SNOMEDCT:417570003|ORPHA:99926|DOID:2025|UMLS:C0349557
MONDO:0007596	obsolete factor VIII deficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0007596		
MONDO:0007593	facial spasm	biolink:Disease	mondo	OMIM:134300		facial spasm	http://purl.obolibrary.org/obo/MONDO_0007593		http://identifiers.org/omim/134300
MONDO:0007594	factor 5 excess with spontaneous thrombosis	biolink:Disease	mondo	UMLS:C1851378|OMIM:134400|MESH:C565026		thrombophilia with elevated Factor 5|factor V excess with spontaneous thrombosis|Proaccelerin Excess	http://purl.obolibrary.org/obo/MONDO_0007594		UMLS:C1851378|MESH:C565026|http://identifiers.org/omim/134400
MONDO:0007591	facial hypertrichosis (disease)	biolink:Disease	mondo	MESH:C565029|OMIM:134000|HP:0002219		facial hypertrichosis	http://purl.obolibrary.org/obo/MONDO_0007591		MESH:C565029|http://identifiers.org/omim/134000
MONDO:0007592	familial recurrent peripheral facial palsy	biolink:Disease	mondo	OMIM:134200|UMLS:C1851399|Orphanet:2809|MESH:C565028|ICD10:G51.0	ordo_disease	familial recurrent Bell palsy|facial palsy, familial recurrent peripheral	http://purl.obolibrary.org/obo/MONDO_0007592		UMLS:C1851399|MESH:C565028|ORPHA:2809|http://identifiers.org/omim/134200
MONDO:0020549	invasive hydatidiform mole	biolink:Disease	mondo	ICD10:D39.2|ICDO:9100/1|ONCOTREE:IHM|MESH:D002820|NCIT:C6985|Orphanet:99925|SCTID:416669000|UMLS:C0008493	ordo_disease	invasive hydatidiform mole|invasive hydatidiform Mole|chorioadenoma Destruens|chorioadenoma destruens|chorioadenoma|IHM|invasive Mole|invasive gestational trophoblastic neoplasm	http://purl.obolibrary.org/obo/MONDO_0020549	A complete hydatidiform mole or very rarely a partial mole that invades the myometrium.	NCIT:C6985|SNOMEDCT:416669000|MESH:D002820|ORPHA:99925|UMLS:C0008493
MONDO:0007590	hemifacial hypertrophy	biolink:Disease	mondo	ICD10:Q67.4|Orphanet:141145|OMIM:133900|UMLS:C1399354	ordo_malformation_syndrome	facial asymmetry|hemifacial hyperplasia|hemifacial hypertrophy|facial hemihypertrophy	http://purl.obolibrary.org/obo/MONDO_0007590	Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties.	http://identifiers.org/omim/133900|ORPHA:141145|UMLS:C1399354
MONDO:0020548	ocular pemphigoid	biolink:Disease	mondo	ICD10:H13.3*|MedDRA:10067776|Orphanet:99922|SCTID:34250006|ICD10:L12+	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0020548	Ocular pemphigoid is a rare inflammatory eye disease characterized by sub-epithelial blistering manifesting with bilateral, asymmetrical, chronic or recurrent conjunctivitis and aberrant tissue regeneration leading to progressive conjunctival fibrosis, secondary corneal vascularization and, in some cases, blindness. Patients typically present with conjunctival redness, increased lacrimation, burning and/or foreign body sensation, edema, limbitis and/or varying degrees of ocular pain. Ankyloblepharon may be observed in end stages of the disease.	SNOMEDCT:34250006|MEDDRA:10067776|ORPHA:99922
MONDO:0019569	Cockayne syndrome type 1	biolink:Disease	mondo	Orphanet:90321|NCIT:C135725|ICD10:Q87.8|OMIM:216400|UMLS:C0751039|GARD:0001415	ordo_clinical_subtype	Cockayne syndrome classical|Cockayne syndrome type a|Cockayne syndrome classic form|Cockayne syndrome A|CSA|ERCC8 Cockayne syndrome|Cockayne syndrome A; CSA|Cockayne syndrome type I|Cockayne syndrome type A|Cockayne syndrome caused by mutation in ERCC8	http://purl.obolibrary.org/obo/MONDO_0019569	Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8.	UMLS:C0751039|NCIT:C135725|http://identifiers.org/omim/216400|ORPHA:90321
MONDO:0020547	chronic graft versus host disease	biolink:Disease	mondo	ICD10:T86.0|ICD10:D89.811|UMLS:C0867389|SCTID:402356004|GARD:0010964|ICD9:279.52|NCIT:C4981|Orphanet:99921|MedDRA:10066261|COHD:434314	gard_rare|ordo_clinical_subtype	chronic GVHD|GVHD, chronic|graft versus host disease, chronic	http://purl.obolibrary.org/obo/MONDO_0020547	Chronic graft versus host disease (GVHD) is a complication that can occur after a stem cell or bone marrow transplant in which the newly transplanted donor cells attack the transplant recipient's body. Symptoms may include skin rash, mouth sores, dry eyes, liver inflammation, development of scar tissue in the skin and joints, and damage to the lungs. The exact cause of chronic GVHD is unknown.It likely results from a complex immune-mediated interaction between the donor and recipient cells.Chronic GVHD is treated with prednisone or other similar anti-inflammatory or immunosuppressive medications.	NCIT:C4981|MEDDRA:10066261|ORPHA:99921|SNOMEDCT:402356004|UMLS:C0867389
MONDO:0020546	acute graft versus host disease	biolink:Disease	mondo	COHD:439416|GARD:0006544|ICD10:D89.810|SCTID:402355000|NCIT:C4980|ICD9:279.51|Orphanet:99920|UMLS:C0856825|ICD10:T86.0|MedDRA:10066260	ordo_clinical_subtype|gard_rare	fulminant graft versus host disease|acute GVHD|GVHD, acute|graft versus host disease, acute	http://purl.obolibrary.org/obo/MONDO_0020546	A syndrome of immunologically mediated tissue damage that may occur following an allogeneic transplant, usually affecting the skin, liver, and GI tract. The onset is usually within one hundred days of transplantation or immunologic manipulation.	NCIT:C4980|MEDDRA:10066260|ORPHA:99920|UMLS:C0856825|SNOMEDCT:402355000
MONDO:0020545	staphylococcal toxic-shock syndrome	biolink:Disease	mondo	ICD9:040.89|Orphanet:99919|ICD10:A48.3|SCTID:240450004|MedDRA:10044250	ordo_etiological_subtype	Staphylococcus caused toxic shock syndrome|Staphylococcus toxic shock syndrome|staphylococcal TSS	http://purl.obolibrary.org/obo/MONDO_0020545	Staphylococcal toxic shock syndrome (staphylococcal TSS) is an acute disease mediated by the production of superantigenic toxins, characterized by high fever, skin rash followed by skin peeling, hypotension, vomiting, diarrhea and potentially leading to multisystem organ failure and caused by a Staphylococcus aureus bacterial infection.	MEDDRA:10044250|SNOMEDCT:240450004|ORPHA:99919
MONDO:0032566	squalene synthase deficiency	biolink:Disease	mondo	OMIM:618156		Neurodevelopmental Disorder With Low Cholesterol and Abnormal Urine Organic Acids|SQUALENE SYNTHASE DEFICIENCY; SQSD	http://purl.obolibrary.org/obo/MONDO_0032566		http://identifiers.org/omim/618156
MONDO:0019566	obsolete Klippel-Trenaunay syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019566		
MONDO:0019565	hereditary von Willebrand disease	biolink:Disease	mondo	GARD:0007867|MedDRA:10047715|ICD9:286.4|DOID:12531|ICD10:D68.0|UMLS:C0042974|MESH:C531844|ICD10:D69.8|Orphanet:903|SCTID:234446004	ordo_disease	vascular hemophilia|hereditary von Willebrand disease (hereditary or acquired)|von Willebrand's-Jurgens' disease|von Willebrand disorder|von Willebrand-Jrgens disease|von Willebrand's disease|congenital von willebrand's disease|vascular pseudohemophilia|congenital von willebrand disease|von Willebrand-Jurgens disease|von Willebrand disease	http://purl.obolibrary.org/obo/MONDO_0019565	Hereditary von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N).	ORPHA:903|UMLS:C0042974|DOID:12531|MESH:C531844|SNOMEDCT:234446004|MEDDRA:10047715
MONDO:0032567	isolated growth hormone deficiency, type 4	biolink:Disease	mondo	OMIM:618157		Isolated Growth Hormone Deficiency, Type Ib, Formerly|Isolated Growth Hormone Deficiency, Type Ib|Dwarfism of Sindh|ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD4	http://purl.obolibrary.org/obo/MONDO_0032567		http://identifiers.org/omim/618157
MONDO:0019568	Ehlers-Danlos syndrome type 2	biolink:Disease	mondo	UMLS:C0268336|MESH:C536195|NCIT:C125697|OMIM:130010|ICD10:Q79.6|Orphanet:90318	ordo_etiological_subtype	Ehlers Danlos syndrome, mitis type|EDS II|Ehlers Danlos syndrome, mild Classic type, formerly|EDSCL2|Ehlers-Danlos syndrome, type Ii, formerly|Ehlers Danlos syndrome, mild Classic type|Ehlers-Danlos syndrome, type Ii|Ehlers-Danlos syndrome, classic type, 2; EDSCL2|EDS II, formerly|Ehlers Danlos syndrome, mitis type, formerly	http://purl.obolibrary.org/obo/MONDO_0019568	Ehlers-Danlos syndrome, type II belongs to the classical type Ehlers-Danlos syndrome. It results most often from mutations in either the COL5A1 gene or the COL5A2 gene.	NCIT:C125697|UMLS:C0268336|http://identifiers.org/omim/130010|ORPHA:90318|MESH:C536195
HGNC:20439	UPF3B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20439		
MONDO:0032564	hennekam lymphangiectasia-lymphedema syndrome 3	biolink:Disease	mondo	OMIM:618154		HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3; HKLLS3	http://purl.obolibrary.org/obo/MONDO_0032564		http://identifiers.org/omim/618154
MONDO:0019567	Ehlers-Danlos syndrome type 1	biolink:Disease	mondo	ICD10:Q79.6|Orphanet:90309|SCTID:83470009|DOID:14720|UMLS:C0268335|NCIT:C125696|MESH:C536194	ordo_etiological_subtype	type I Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, type I|EDS I|Ehlers-Danlos syndrome, type 1|Ehlers-Danlos syndrome, type I	http://purl.obolibrary.org/obo/MONDO_0019567	Ehlers-Danlos syndrome, type I belongs to the classical type Ehlers-Danlos syndrome. It results most often from mutations in either the COL5A1 gene or the COL5A2 gene.	SNOMEDCT:83470009|DOID:14720|NCIT:C125696|UMLS:C0268335|ORPHA:90309|MESH:C536194
MONDO:0032565	ophthalmoplegia, external, with rib and vertebral anomalies	biolink:Disease	mondo	OMIM:618155		OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES; EORVA	http://purl.obolibrary.org/obo/MONDO_0032565		http://identifiers.org/omim/618155
MONDO:0019562	localized scleroderma	biolink:Disease	mondo	UMLS:C0036420|GARD:0007058|MESH:D012594|ICD9:701.0|COHD:441928|DOID:8472|NCIT:C72069|Orphanet:90289|ICD10:L94.0|MedDRA:10039712|SCTID:201048007	ordo_disease	morphea|localized scleroderma (disorder) [ambiguous]|Scleroderma, circumscribed or localized|circumscribed scleroderma|Scleroderma, localized|localised morphoea|localized morphea|localized scleroderma|localized fibrosing scleroderma	http://purl.obolibrary.org/obo/MONDO_0019562	Localized scleroderma is the skin localized form of scleroderma characterized by fibrosis of the skin causing cutaneous plaques or strips.	NCIT:C72069|MEDDRA:10039712|DOID:8472|ORPHA:90289|SNOMEDCT:201048007|MESH:D012594|UMLS:C0036420
MONDO:0019561	lupus erythematosus panniculitis	biolink:Disease	mondo	NCIT:C82884|MESH:D015435|ICD10:L93.2|UMLS:C0030327|SCTID:15084002|Orphanet:90285	ordo_disease	lupus profundus|lupus panniculitis|lupus erythematosus profundus	http://purl.obolibrary.org/obo/MONDO_0019561	A type of lupus erythematosus characterized by deep dermal or subcutaneous nodules, most often on the head, face, or upper arms. It is generally chronic and occurs most often in women between the ages of 20 and 45.	SNOMEDCT:15084002|MESH:D015435|ORPHA:90285|NCIT:C82884|UMLS:C0030327
MONDO:0019564	obsolete systemic sclerosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019564		
MONDO:0019563	CREST syndrome	biolink:Disease	mondo	MedDRA:10011380|NCIT:C70646|ICD10:M34.1|MESH:D017675|SCTID:31848007|Orphanet:90290|COHD:4135937|DOID:0060218|UMLS:C0206138|GARD:0012430	ordo_clinical_subtype	lcSSc|calcinosis - Raynaud phenomenon - esophageal involvement - sclerodactyly - telangiectasia|limited cutaneous Systemic sclerosis|syndrome, CREST|phenomenon-sclerodactyly-telangiectasia, calcinosis-Raynaud|calcinosis, Raynaud's phenomenon, esophageal dismobility, sclerodactyly, telangiectasia syndrome|calcinosis Raynaud phenomenon sclerodactyly telangiectasia|calcinosis-Raynaud phenomenon-sclerodactyly-telangiectasia|CRST syndromes|limited cutaneous Systemic Scleroderma|CRST syndrome|calcinosis-Raynaud phenomenon-esophageal involvement-sclerodactyly-telangiectasia syndrome	http://purl.obolibrary.org/obo/MONDO_0019563	CREST syndrome is a subtype of limited cutaneous systemic sclerosis (lcSSc) whose name is an acronym for the cardinal clinical features of the syndrome: calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia.	DOID:0060218|SNOMEDCT:31848007|MESH:D017675|NCIT:C70646|MEDDRA:10011380|ORPHA:90290|UMLS:C0206138
MONDO:0007568	aortic aneurysm, familial thoracic 4	biolink:Disease	mondo	OMIM:132900|MESH:C537784|GARD:0009876|UMLS:C1851504	gard_rare	aortic aneurysm, familial thoracic 4; AAT4|familial thoracic aortic aneurysm and aortic dissection caused by mutation in MYH11|aortic aneurysm, familial thoracic 4|aortic aneurysm, familial thoracic type 4|aortic aneurysm/aortic dissection and patent ductus arteriosus|FAA4|MYH11 familial thoracic aortic aneurysm and aortic dissection|AAT4	http://purl.obolibrary.org/obo/MONDO_0007568	Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MYH11 gene.	MESH:C537784|UMLS:C1851504|http://identifiers.org/omim/132900
MONDO:0032568	intellectual developmental disorder with macrocephaly, seizures, and speech delay	biolink:Disease	mondo	OMIM:618158		INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY; IDDMSSD	http://purl.obolibrary.org/obo/MONDO_0032568		http://identifiers.org/omim/618158
MONDO:0007569	erythema nodosum, familial	biolink:Disease	mondo	OMIM:132990|MESH:C535510|UMLS:C1851503|GARD:0009259	gard_rare	familial erythema nodosum|erythema nodosum, familial	http://purl.obolibrary.org/obo/MONDO_0007569		MESH:C535510|UMLS:C1851503|http://identifiers.org/omim/132990
MONDO:0032569	isolated growth hormone deficiency, type 5	biolink:Disease	mondo	OMIM:618160		ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V; IGHD5	http://purl.obolibrary.org/obo/MONDO_0032569		http://identifiers.org/omim/618160
MONDO:0007566	multiple self-healing squamous epithelioma	biolink:Disease	mondo	ICD10:C44.3|SCTID:254659009|GARD:0003090|NCIT:C4461|OMIM:132800|DOID:5585|ICD10:C44.7|MESH:C536150|ICD10:C44.6|Orphanet:65748|UMLS:C0345982	ordo_disease|gard_rare	ESS1|Ferguson-Smith-type epithelioma|Ferguson-Smith tumor|MSSE|self-healing squamous epithelioma type 1|multiple self-healing squamous epithelioma, susceptibility to|multiple self healing squamous epithelioma|familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type|ESS1 (formerly)|multiple self-healing epithelioma of Ferguson-Smith|multiple keratoacanthoma, Ferguson-Smith type|ESS1, formerly|Ferguson-Smith disease|multiple self healing epithelioma of Ferguson-Smith|Ferguson-Smith type epithelioma|multiple self-healing squamous epithelioma, susceptibility to; MSSE	http://purl.obolibrary.org/obo/MONDO_0007566	Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars.	DOID:5585|MESH:C536150|SNOMEDCT:254659009|ORPHA:65748|NCIT:C4461|http://identifiers.org/omim/132800|UMLS:C0345982
MONDO:0020544	streptococcal toxic-shock syndrome	biolink:Disease	mondo	UMLS:C0343532|Orphanet:99918|ICD10:A48.3|MedDRA:10044251|SCTID:240451000	ordo_etiological_subtype	Streptococcus toxic shock syndrome|streptococcal TSS|Streptococcus caused toxic shock syndrome	http://purl.obolibrary.org/obo/MONDO_0020544	Streptococcal toxic-shock syndrome (streptococcal TSS) is an acute disease mediated by the production of superantigenic toxins characterized by the sudden onset of fever and other febrile symptoms, pain, multisystem organ involvement and potentially leading to coma, shock and death due to a Streptococcus pyogenes infection.	SNOMEDCT:240451000|ORPHA:99918|UMLS:C0343532|MEDDRA:10044251
MONDO:0007567	obsolete Epstein-Barr virus insertion site 1	biolink:Disease	mondo	OMIM:132850		Epstein-Barr virus insertion site 1|Epstein-Barr Virus integration site|Epstein-Barr Virus insertion site type 1|Epstein-Barr VIRUS insertion site 1; EBVS1|EBVS1	http://purl.obolibrary.org/obo/MONDO_0007567		http://identifiers.org/omim/132850
MONDO:0020543	theca steroid-producing cell malignant tumor of ovary, not further specified	biolink:Disease	mondo	Orphanet:99917|ICD10:C56|UMLS:CN207444	ordo_disease	theca (steroid-producing) cell cancer, not further specified	http://purl.obolibrary.org/obo/MONDO_0020543	Malignant steroid cell tumor of the ovary, not otherwise specified is a rare malignant sex cord stromal tumor of ovary of unknown histological lineage, occurring in adult women, characterized, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) and, occasionally, Cushing syndrome.	ORPHA:99917|UMLS:CN207444
MONDO:0020542	malignant Sertoli-Leydig cell tumor of ovary	biolink:Disease	mondo	UMLS:CN207443|UMLS:C0342515|SCTID:237795006|Orphanet:99916|ICD9:239.5|ICD10:C56	ordo_disease	malignant ovarian Sertoli-Leydig cell tumor|Androblastoma|malignant ovarian sertoli-Leydig cell tumor|virilizing ovarian tumor|malignant Sertoli-Leydig cell tumor of the ovary|Arrhenoblastoma|ovarian sertoli-Leydig cell tumor, malignant|ovarian Sertoli-Leydig cell tumor, malignant|ovarian malignant Sertoli-Leydig cell tumor|ovarian Sertoli-Leydig cell cancer	http://purl.obolibrary.org/obo/MONDO_0020542	Malignant Sertoli-Leydig cell tumor of ovary is a rare malignant sex cord stromal tumor of ovary occuring typically in young women and characterized by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea), when functional.	SNOMEDCT:237795006|ORPHA:99916|UMLS:C0342515|UMLS:CN207443
MONDO:0007564	pilomatrixoma	biolink:Disease	mondo	NCIT:C7368|EFO:0009082|MedDRA:10035040|UMLS:C0853031|DOID:5374|ICDO:8110/0|Orphanet:91414|MESH:D018296|UMLS:C0206711|OMIM:132600|SCTID:274901004|ICD10:C44.6|GARD:0009452|ICD10:C44.3	gard_rare|ordo_malformation_syndrome	calcifying Epitherlioma of Malherbe|PTR|calcifying epithelioma of Malherbe|pilomatrixoma, benign|pilomatrixoma|benign pilomatrixoma|pilomatricoma|epithelioma calcificans of Malherbe|benign hair follicle neoplasm|benign pilomatricoma	http://purl.obolibrary.org/obo/MONDO_0007564	Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome.	UMLS:C0206711|UMLS:C0853031|NCIT:C7368|MESH:D018296|SNOMEDCT:274901004|http://identifiers.org/omim/132600|ORPHA:91414|MEDDRA:10035040|DOID:5374
MONDO:0020541	maligant granulosa cell tumor of ovary	biolink:Disease	mondo	UMLS:CN207442|GARD:0008642|Orphanet:99915|UMLS:C0346175|NCIT:C8403|ICD10:C56|SCTID:254861002	gard_rare|ordo_disease	cancer of granulosa cell|granulosa theca cell tumor of the ovary|granulosa theca cell tumor|ovarian granulosa cell tumor of adults|GTCT|malignant granulosa cell neoplasm of the ovary|GCT of the ovary|malignant ovarian granulosa cell tumor|malignant granulosa cell neoplasm of ovary|malignant granulosa cell tumor of the ovary|adult granulosa cell tumor of the ovary|malignant granulosa cell tumor of ovary|adult ovarian granulosa cell tumor|granulosa cell cancer|malignant granulosa cell neoplasm|Maligant granulosa cell tumor of the ovary|malignant ovarian granulosa cell neoplasm|granulosa cell malignant tumor	http://purl.obolibrary.org/obo/MONDO_0020541	An aggressive granulosa cell tumor that arises from the ovary and metastasizes to other anatomic sites.	UMLS:C0334401|UMLS:C0346175|UMLS:C1567257|ORPHA:99915|NCIT:C8403|UMLS:CN207442|SNOMEDCT:254861002
MONDO:0007565	familial cylindromatosis	biolink:Disease	mondo	GARD:0009707|OMIM:132700|Orphanet:211|NCIT:C43352|MESH:C536611	ordo_clinical_subtype	Ancell-Spiegler Cylindromas|'turban tumor' syndrome|turban tumors|CYLD|cylindromatosis, familial|turban tumor syndrome|turban tumor|Cylindromas, dermal eccrine|Ancell-Spiegler syndrome	http://purl.obolibrary.org/obo/MONDO_0007565		MESH:C536611|UMLS:C1704217|NCIT:C43352|UMLS:C1851526|http://identifiers.org/omim/132700|ORPHA:211
MONDO:0007562	multiple epiphyseal dysplasia, Beighton type	biolink:Disease	mondo	MESH:C565046|DOID:0111348|SCTID:719689005|ICD10:Q77.3|Orphanet:166011|OMIM:132450	ordo_disease	EDMMD|multiple epiphyseal dysplasia-myopia-deafness syndrome|epiphyseal dysplasia, multiple, with myopia and conductive deafness; EDMMD|epiphyseal dysplasia, multiple, with myopia and conductive deafness	http://purl.obolibrary.org/obo/MONDO_0007562	Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits.	DOID:0111348|SNOMEDCT:719689005|http://identifiers.org/omim/132450|ORPHA:166011|MESH:C565046
MONDO:0020540	ovarian gynandroblastoma	biolink:Disease	mondo	GARD:0009665|ICDO:8632/1|EFO:1000422|Orphanet:99914|ICD10:D40.1|UMLS:C0018413|UMLS:C0346178|ICD10:D39.1|NCIT:C3072|SCTID:254867003	gard_rare|ordo_disease	Gynandroblastoma of the ovary|Gynandroblastoma of ovary|Gynandroblastoma	http://purl.obolibrary.org/obo/MONDO_0020540	A rare neoplasm arising from the ovary. Although it may occur at any age, it is more often seen in young females. Morphologically, it is characterized by a mixture of two cellular populations: well differentiated Sertoli cells and granulosa cells, with the latter constituting at least ten percent of the neoplasm. The vast majority of cases are stage I lesions at presentation and produce either estrogenic or androgenic manifestations. Although it may present as a massive ovarian tumor, it usually follows a benign clinical course. Very rare case reports of testicular lesions morphologically resembling gynandroblastomas are in fact variants of juvenile granulose cell tumor, or Sertoli cell tumor, or a combination of both.	NCIT:C3072|SNOMEDCT:254867003|UMLS:C0346178|ORPHA:99914|UMLS:C0018413
MONDO:0007563	obsolete epistaxis, hereditary	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0007563		
MONDO:0007560	reading seizures	biolink:Disease	mondo	UMLS:C0278193|OMIM:132300|Orphanet:166433|ICD10:G40.8	ordo_disease	epilepsy, reading	http://purl.obolibrary.org/obo/MONDO_0007560		http://identifiers.org/omim/132300|ORPHA:166433|UMLS:C0278193
MONDO:0007561	multiple epiphyseal dysplasia type 1	biolink:Disease	mondo	Orphanet:93308|UMLS:C1838280|SCTID:715673002|DOID:0070303|GARD:0002180|UMLS:C4275061|OMIM:132400|ICD10:Q77.3	ordo_disease|gard_rare	epiphyseal dysplasia, multiple, 1; EDM1|multiple epiphyseal dysplasia (disease) caused by mutation in COMP|Polyepiphyseal dysplasia type 1|multiple epiphyseal dysplasia COMP-related|MED1|EDM1|multiple epiphyseal dysplasia 1|epiphyseal dysplasia, ribbing type|COMP multiple epiphyseal dysplasia (disease)|multiple epiphyseal dysplasia, Comp-related|epiphyseal dysplasia, Fairbank type|epiphyseal dysplasia multiple 1|epiphyseal dysplasia, multiple, type 1|epiphyseal dysplasia, multiple, 1	http://purl.obolibrary.org/obo/MONDO_0007561	Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.	UMLS:C1838280|MESH:C535501|SNOMEDCT:715673002|UMLS:C4275061|ORPHA:93308|http://identifiers.org/omim/132400|DOID:0070303
MONDO:0032570	Joubert syndrome 35	biolink:Disease	mondo	OMIM:618161		JOUBERT SYNDROME 35; JBTS35	http://purl.obolibrary.org/obo/MONDO_0032570		http://identifiers.org/omim/618161
GO:0030072	peptide hormone secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0030072	The regulated release of a peptide hormone from a cell.	
HP:0004378	Abnormality of the anus	biolink:PhenotypicFeature	mondo	UMLS:C4025329		Abnormality of the anus	http://purl.obolibrary.org/obo/HP_0004378	Abnormality of the anal canal.	
MONDO:0020539	extragonadal non-dysgerminomatous germ cell tumor	biolink:Disease	mondo	UMLS:CN207440|Orphanet:99913	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020539		UMLS:CN207440|ORPHA:99913
MONDO:0020538	malignant dysgerminomatous germ cell tumor of ovary	biolink:Disease	mondo	ICD10:C56|Orphanet:99912|UMLS:CN207439	ordo_disease	dysgerminomatous germ cell cancer of the ovary|dysgerminomatous germ cell cancer of ovary|malignant dysgerminomatous germ cell tumor of the ovary|malignant ovarian dysgerminoma	http://purl.obolibrary.org/obo/MONDO_0020538	Malignant dysgerminomatous germ cell tumor of ovary is the most common form of malignant germ cell tumor of ovary, arising from germ cells in the ovary, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding, and acute abdomen and is characterized by bilaterality (around 10% of cases), association with dysgenetic gonads (5 to 10% of cases), elevated serum lactate dehydrogenase (LDH) and human chorionic gonadotrophin (hCG) (in the presence of syncitiotrophoblasts). Malignant dysgerminomatous germ cell tumor of ovary responds well to chemotherapy, potentially sparing patients from infertility and early mortality.	UMLS:CN207439|ORPHA:99912
HP:0004377	Hematological neoplasm	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:129154003|SNOMEDCT_US:269475001|UMLS:C0376545|MSH:D019337		Haematological neoplasm|Blood tumor	http://purl.obolibrary.org/obo/HP_0004377	Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue).	
MONDO:0020537	occupational allergic alveolitis	biolink:Disease	mondo	Orphanet:99909	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020537	Occupational allergic alveolitis designates a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her occupational environment. Symptoms vary depending on the antigen and the form (acute, subacute, chronic) of the disease. They may be cough, dyspnea, chills, fever, weight loss, loss of appetite and general malaise	ORPHA:99909
MONDO:0019559	hypertrophic or verrucous lupus erythematosus	biolink:Disease	mondo	UMLS:CN227653|Orphanet:90282|ICD10:L93.2	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019559		UMLS:CN227653|ORPHA:90282
MONDO:0020536	obsolete pigeon-breeder lung disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0020536		
MONDO:0019558	discoid lupus erythematosus	biolink:Disease	mondo	MESH:D008179|UMLS:C0024138|Orphanet:90281|MedDRA:10013072|COHD:4066824|SCTID:200938002|ICD10:L93.0|NCIT:C26820	ordo_disease	DLE	http://purl.obolibrary.org/obo/MONDO_0019558	A chronic, autoimmune skin condition that manifests with a red, scaling rash, most often found on the face, ears, and scalp; these lesions often lead to permanent scarring and dyspigmentation. Patients may have lesions with or without other symptoms or antibodies suggestive of systemic lupus erythematosus (SLE).	MESH:D008179|UMLS:C0024138|SNOMEDCT:200938002|MEDDRA:10013072|NCIT:C26820|ORPHA:90281
MONDO:0020535	house allergic alveolitis	biolink:Disease	mondo	ICD10:J67.8|SCTID:725415009|Orphanet:99907|UMLS:C4511048	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0020535	House allergic alveolitis is a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her domestic environment. House allergic alveolitis encompasses summer hypersensitivity pneumonitis, humidifier-induced lung diseases, hot tub lung and legionellosis.	UMLS:C4511048|SNOMEDCT:725415009|ORPHA:99907
MONDO:0020534	obsolete farmer's lung	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0020534		
HP:0004372	Reduced consciousness/confusion	biolink:PhenotypicFeature	mondo	UMLS:C0234428|SNOMEDCT_US:3006004		Lowered consciousness|Reduced consciousness/confusion|Disturbances of consciousness	http://purl.obolibrary.org/obo/HP_0004372		
MONDO:0032577	retinitis pigmentosa 83	biolink:Disease	mondo	OMIM:618173		RETINITIS PIGMENTOSA 83; RP83	http://purl.obolibrary.org/obo/MONDO_0032577		http://identifiers.org/omim/618173
MONDO:0019555	panniculitis and localized lipodystrophy	biolink:Disease	mondo	UMLS:CN227651|Orphanet:90159|ICD10:E88.1	ordo_disease	panniculitis-induced localized lipodystrophy	http://purl.obolibrary.org/obo/MONDO_0019555		UMLS:CN227651|ORPHA:90159
MONDO:0019554	idiopathic localized lipodystrophy	biolink:Disease	mondo	UMLS:CN227650|Orphanet:90158|ICD10:E88.1	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019554	Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc).	ORPHA:90158|UMLS:CN227650
MONDO:0032578	cortical dysplasia, complex, with other brain malformations 9	biolink:Disease	mondo	OMIM:618174		CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9; CDCBM9	http://purl.obolibrary.org/obo/MONDO_0032578		http://identifiers.org/omim/618174
HP:0004370	Abnormality of temperature regulation	biolink:PhenotypicFeature	mondo	MSH:D001832|UMLS:C0005904|UMLS:C1832160		Abnormality of temperature regulation|Body temperature changes|Poor temperature regulation	http://purl.obolibrary.org/obo/HP_0004370	An abnormality of temperature homeostasis.	
MONDO:0019557	chilblain lupus	biolink:Disease	mondo	UMLS:CN239336|DOID:0060386|Orphanet:90280|MedDRA:10025141|UMLS:C0024145|ICD10:L93.2	ordo_disease	CHLE|Hutchinson lupus	http://purl.obolibrary.org/obo/MONDO_0019557	A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative.	UMLS:C0024145|MESH:C535924|DOID:0060386|MEDDRA:10025141|UMLS:CN239336|ORPHA:90280
MONDO:0032575	diarrhea 9	biolink:Disease	mondo	OMIM:618168		DIARRHEA 9; DIAR9	http://purl.obolibrary.org/obo/MONDO_0032575		http://identifiers.org/omim/618168
HGNC:20406	KRT6C	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20406		
MONDO:0019556	pressure-induced localized lipoatrophy	biolink:Disease	mondo	SCTID:238898001|UMLS:CN227652|Orphanet:90160|ICD10:E88.1	ordo_disease	lipoatrophia semicircularis|semicircular lipoatrophy	http://purl.obolibrary.org/obo/MONDO_0019556	Pressure-induced localized lipoatrophy is a rare, acquired, localized lipodystrophy characterized by band-like, horizontal, asymptomatic, lipoatrophic depressions with clinically normal overlying skin usually involving the anterolateral aspect of the thighs. An identifiable history of the repeated mechanical microtrauma due to occupational or postural habits is present.	SNOMEDCT:238898001|UMLS:CN227652|ORPHA:90160
HGNC:20407	CALR3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20407		
MONDO:0032576		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0032576		
NCBITaxon:1437201	Pentapetalae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1437201		
MONDO:0032573	bone marrow failure syndrome 5	biolink:Disease	mondo	OMIM:618165		BONE MARROW FAILURE SYNDROME 5; BMFS5	http://purl.obolibrary.org/obo/MONDO_0032573		http://identifiers.org/omim/618165
MONDO:0019551	hereditary motor and sensory neuropathy type 6	biolink:Disease	mondo	ICD10:G60.0|DOID:0080068|Orphanet:90120|UMLS:C0393807	ordo_disease	CMT6|hereditary motor and sensory neuropathy type 6|Charcot-Marie-Tooth disease type 6|peripheral neuropathy and optic atrophy	http://purl.obolibrary.org/obo/MONDO_0019551		UMLS:C0393807|DOID:0080068|ORPHA:90120
MONDO:0019550	hereditary motor and sensory neuropathy with acrodystrophy	biolink:Disease	mondo	UMLS:CN206379|ICD10:G60.0|Orphanet:90119	ordo_disease	HMSN with acrodystrophy|autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy|AR-CMT2 with acrodystrophy|autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy	http://purl.obolibrary.org/obo/MONDO_0019550	Hereditary motor and sensory neuropathy with acrodystrophy is a rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999.	UMLS:CN206379|ORPHA:90119
MONDO:0032574	osteochondrodysplasia, brachydactyly, and overlapping malformed digits	biolink:Disease	mondo	OMIM:618167		OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS; OCBMD	http://purl.obolibrary.org/obo/MONDO_0032574		http://identifiers.org/omim/618167
MONDO:0019553	drug-induced localized lipodystrophy	biolink:Disease	mondo	ICD10:E88.1|SCTID:403661001|UMLS:CN227649|Orphanet:90157	ordo_disease	lipoatrophy caused by injected drug	http://purl.obolibrary.org/obo/MONDO_0019553	Drug-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by the appearance of asymptomatic, well-demarcated, variably sized, depressed, lipoatrophic lesions secondary to subcutaneous, intradermic or intramuscular drug injection, including corticosteroids, insulin, human growth hormone and antibiotics. Skin coloration may vary from white or hypopigmented to reddish, pinkish or violaceous. Epidermal atrophy may be also present.	SNOMEDCT:403661001|UMLS:CN227649|ORPHA:90157
MONDO:0032571	spondyloepimetaphyseal dysplasia, Krakow type	biolink:Disease	mondo	OMIM:618162		SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE; SEMDK|Immunoosseous Dysplasia, Krakow Type	http://purl.obolibrary.org/obo/MONDO_0032571		http://identifiers.org/omim/618162
HP:0004374	Hemiplegia/hemiparesis	biolink:PhenotypicFeature	mondo	UMLS:C0375206		Paralysis or weakness of one side of body	http://purl.obolibrary.org/obo/HP_0004374	Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.	
GO:0017099	very-long-chain-acyl-CoA dehydrogenase activity	biolink:OntologyClass	mondo			very long-chain-acyl-CoA dehydrogenase activity	http://purl.obolibrary.org/obo/GO_0017099	Catalysis of the reaction: acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor, where the acyl group is a very long chain fatty acid residue. A very long-chain fatty acid is a fatty acid which has a chain length greater than C22.	
GO:0030073	insulin secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0030073	The regulated release of proinsulin from secretory granules accompanied by cleavage of proinsulin to form mature insulin. In vertebrates, insulin is secreted from B granules in the B cells of the vertebrate pancreas and from insulin-producing cells in insects.	
MONDO:0032572	cardiac, facial, and digital anomalies with developmental delay	biolink:Disease	mondo	OMIM:618164		CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY; CAFDADD	http://purl.obolibrary.org/obo/MONDO_0032572		http://identifiers.org/omim/618164
MONDO:0019552	centrifugal lipodystrophy	biolink:Disease	mondo	ICD10:E88.1|Orphanet:90156	ordo_disease	lipodystrophia centrifugalis abdominalis infantilis	http://purl.obolibrary.org/obo/MONDO_0019552	Centrifugal lipodystrophy is a rare, acquired, localized lipodistrophy characterized by single or, occasionally, multiple, centrifugally progressive, asymptomatic to sometimes mildly tender, hypopigmented, lipoatrophic skin depressions with weakly erymatheous inflammatory borders, typically associated with regional ipsilateral lymph nodes swelling. Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving.	ORPHA:90156
HGNC:20422	POLR1D	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20422		
HGNC:20423	SPATA7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20423		
MONDO:0007579	esterase C	biolink:Disease	mondo	OMIM:133270		esterase type C|esterase C|esterase C; ESC|ESC	http://purl.obolibrary.org/obo/MONDO_0007579		http://identifiers.org/omim/133270
MONDO:0032579	warburg-cinotti syndrome	biolink:Disease	mondo	OMIM:618175		WARBURG-CINOTTI SYNDROME; WRCN	http://purl.obolibrary.org/obo/MONDO_0032579		http://identifiers.org/omim/618175
UBERON:0004190	renal glomerulus vasculature	biolink:AnatomicalEntity	mondo			vascular network of renal glomerulus|glomerulus vasculature|renal glomerulus vasculature|renal glomerulus vascular network|vasculature of renal glomerulus	http://purl.obolibrary.org/obo/UBERON_0004190	The glomerulus vasculature is composed of the tubule structures that carry blood or lymph in the glomerulus	
MONDO:0007577	esophageal ring, lower	biolink:Disease	mondo	OMIM:133240|SCTID:235623002|UMLS:C0341137|ICD9:750.3|MESH:C562765		esophageal ring, lower	http://purl.obolibrary.org/obo/MONDO_0007577		UMLS:C0341137|http://identifiers.org/omim/133240|SNOMEDCT:235623002|MESH:C562765
MONDO:0020533	streptobacillary rat-bite fever	biolink:Disease	mondo	DOID:13238|ICD10:A25.1|Orphanet:99905|UMLS:C0152063|ICD9:026.1|SCTID:52138004|UMLS:CN207435	ordo_etiological_subtype	streptobacillary rat-bite fever|Streptobacillosis|Streptobacillary fever|Haverhill fever	http://purl.obolibrary.org/obo/MONDO_0020533	Streptobacillary rat-bite fever (RBF) is a systemic zoonosis caused by the aerobic gram-negative bacterium Streptobacillus moniliformis and is transmitted to humans through the bites and scratches of infected rats.	UMLS:C0152063|SNOMEDCT:52138004|ORPHA:99905|DOID:13238|UMLS:CN207435
MONDO:0007578	esterase B	biolink:Disease	mondo	OMIM:133260		esterase type B|esterase B|ESB|esterase B; ESB	http://purl.obolibrary.org/obo/MONDO_0007578		http://identifiers.org/omim/133260
MONDO:0020532	spirillary rat-bite fever	biolink:Disease	mondo	ICD9:026.0|SCTID:19044004|Orphanet:99903|ICD10:A25.0|DOID:12096	ordo_etiological_subtype	Spirillary fever|spirillosis|sodoku disease|sodoku	http://purl.obolibrary.org/obo/MONDO_0020532	Spirillary rat-bite fever (RBF), also known as Sodoku (Japanese for so: rat and doku: poison), is caused by the gram-negative bacillus Spirillum minus and is transmitted to humans through the bites and scratches of rats. The disease is mostly present in Asia.	SNOMEDCT:19044004|ORPHA:99903|DOID:12096
MONDO:0020531	long chain acyl-CoA dehydrogenase deficiency	biolink:Disease	mondo	MESH:C535690|GARD:0009700|UMLS:C0220711|ICD10:E71.3|SCTID:237996001|Orphanet:99900|NCIT:C84537	ordo_disease	inborn long-chain-acyl-CoA dehydrogenase activity disorder|LCAD|long-chain acyl-CoA dehydrogenase deficiency|inborn error of long-chain-acyl-CoA dehydrogenase activity|rare inborn error of long-chain-acyl-CoA dehydrogenase activity|acyl-CoA dehydrogenase, long-chain deficiency|rare inborn error of long-chain-acyl-CoA dehydrogenase activity|long-chain acyl-Coenzyme A dehydrogenase deficiency|ACADL deficiency|LCAD deficiency	http://purl.obolibrary.org/obo/MONDO_0020531	A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy.	UMLS:C0220711|NCIT:C84537|SNOMEDCT:237996001|ORPHA:99900|MESH:C535690
GO:0140513	nuclear protein-containing complex	biolink:OntologyClass	mondo			nuclear complex	http://purl.obolibrary.org/obo/GO_0140513	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together in the nucleus.	
MONDO:0007575	obsolete erythrokeratodermia variabilis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0007575		
MONDO:0020530	mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency	biolink:Disease	mondo	GARD:0003011|MESH:C535530|Orphanet:99898|ICD10:D84.8|UMLS:C2930924	ordo_disease|predisposition	interferon gamma, receptor 1, deficiency|MSMD due to complete interferon gamma receptor 1 deficiency|IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency|IFNGR1 deficiency|MSMD due to complete IFNgammaR1 deficiency|Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IFNGR1	http://purl.obolibrary.org/obo/MONDO_0020530	Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM).	UMLS:C2930924|ORPHA:99898|MESH:C535530
MONDO:0007576	esophageal cancer	biolink:Disease	mondo	ICD9:150.5|ICD9:150.4|COHD:4092060|ICD9:150.9|ICD9:150.3|UMLS:C0546837|DOID:5041|OMIM:133239|GARD:0006383|ICD10:C15.5|ICD10:C15.4|NCIT:C7478|ICD10:C15.3|ICD9:150.8|ICD9:150.2|SCTID:363402007		malignant neoplasm of middle third of oesophagus|malignant tumor of proximal third of esophagus|cancer of esophagus|Escc, susceptibility to|esophagus cancer|malignant esophageal tumor|malignant neoplasm of distal third of esophagus|Ca middle third oesophagus|malignant tumor of abdominal esophagus|malignant neoplasm of lower third of oesophagus|malignant neoplasm of esophagus|malignant neoplasm of the esophagus|malignant esophagus tumor|gastric cardia adenocarcinoma, susceptibility to|malignant neoplasm of proximal third of esophagus|malignant tumor of distal third of esophagus|malignant tumor of the middle third of the esophagus|malignant esophagus neoplasm|Ca lower third oesophagus|esophageal squamous cell carcinoma, susceptibility to|esophageal cancer|malignant tumor of the esophagus|malignant tumor of esophagus|Aerodigestive tract cancer, susceptibility to|malignant neoplasm of upper third esophagus|malignant esophageal neoplasm	http://purl.obolibrary.org/obo/MONDO_0007576	A primary or metastatic malignant neoplasm involving the esophagus.	NCIT:C7478|http://identifiers.org/omim/133239|SNOMEDCT:363402007|UMLS:C0546837|DOID:5041
MONDO:0007573	acute erythroleukemia, familial	biolink:Disease	mondo	EFO:0000218|OMIM:133180|ICD9:207.0|MESH:C565039		ERYTHROLEUKEMIA, familial|hereditary acute erythroid leukemia|leukemia, acute myelogenous, M6|Di Guglielmo disease, familial	http://purl.obolibrary.org/obo/MONDO_0007573	An instance of acute erythroleukemia that is caused by an inherited modification of the individual's genome.	http://identifiers.org/omim/133180|MESH:C565039
MONDO:0007574	spinocerebellar ataxia type 34	biolink:Disease	mondo	DOID:0050981|SCTID:719255000|MESH:C535738|Orphanet:1955|ICD10:G11.1|UMLS:C1851481|OMIM:133190|GARD:0000059	ordo_disease|gard_rare	spinocerebellar ataxia 34|Giroux Barbeau syndrome|spinocerebellar ataxia type 34|erythrokeratodermia with ataxia|erythrokeratodermia - ataxia|spinocerebellar ataxia 34; SCA34|SCA34|spinocerebellar ataxia and erythrokeratodermia	http://purl.obolibrary.org/obo/MONDO_0007574	Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.	DOID:0050981|MESH:C535514|MESH:C535738|http://identifiers.org/omim/133190|SNOMEDCT:719255000|UMLS:C1851481|UMLS:C2930921|ORPHA:1955
MONDO:0007571	primary erythermalgia	biolink:Disease	mondo	NCIT:C125383|GARD:0006377|OMIM:133020|UMLS:C0014805|SCTID:709489006|Orphanet:90026|ICD10:I73.8	ordo_disease	PERYTHM|erythromelalgia, primary|erythromelalgia, familial|Mitchell disease (formerly)|erythermalgia, primary|primary erythromelalgia|neuropathy, small Fiber	http://purl.obolibrary.org/obo/MONDO_0007571	Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder.	SNOMEDCT:709489006|http://identifiers.org/omim/133020|NCIT:C125383|ORPHA:90026|UMLS:C0014805
MONDO:0007572	primary familial polycythemia due to EPO receptor mutation	biolink:Disease	mondo	SCTID:17342003|GARD:0009843|ICD10:D75.0|Orphanet:90042|OMIM:133100|ICD9:289.6|DOID:0060652	ordo_disease|gard_rare	erythrocytosis, familial, 1; ECYT1|primary congenital erythrocytosis|polycythemia, primary familial and congenital|erythrocytosis, familial, 1|familial erythrocytosis, 1|erythrocytosis familial, 1|familial erythrocytosis 1|congenital polycythemia due to erythropoietin receptor mutation|autosomal dominant benign erythrocytosis|erythrocytosis, autosomal dominant benign|primary familial polycythemia|primary familial and congenital polycythemia|PFCP|familial erythrocytosis type 1|EPOR familial polycythemia|ECYT1|congenital erythrocytosis due to erythropoietin receptor mutation|familial polycythemia caused by mutation in EPOR|erythrocytosis autosomal dominant benign|erythrocytosis, familial, type 1|familial erythrocytosis	http://purl.obolibrary.org/obo/MONDO_0007572	Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.	http://identifiers.org/omim/133100|DOID:0060652|ORPHA:90042|SNOMEDCT:17342003
MONDO:0032580	nephrotic syndrome, type 17	biolink:Disease	mondo	DOID:0080392|OMIM:618176		NEPHROTIC SYNDROME, TYPE 17; NPHS17	http://purl.obolibrary.org/obo/MONDO_0032580		http://identifiers.org/omim/618176|DOID:0080392
UBERON:0004198	comma-shaped body	biolink:AnatomicalEntity	mondo			CSB	http://purl.obolibrary.org/obo/UBERON_0004198	The comma-shaped body is the precursor structure to the S-shaped body that contributes to the morphogenesis of the nephron	
MONDO:0007570	erythema palmare hereditarium	biolink:Disease	mondo	UMLS:C1851502|MESH:C565041|OMIM:133000|Orphanet:231031|SCTID:763767006|ICD10:L59.8	ordo_disease	lane disease|erythema palmare hereditarium|Red palms disease	http://purl.obolibrary.org/obo/MONDO_0007570	Erythema palmare hereditarium is a rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient.	SNOMEDCT:763767006|http://identifiers.org/omim/133000|UMLS:C1851502|ORPHA:231031|MESH:C565041
MONDO:0020529	ACTH-independent Cushing syndrome	biolink:Disease	mondo	Orphanet:99893|ICD10:E24.8|UMLS:CN207429	ordo_group_of_disorders	corticotropin-independent Cushing syndrome|adrenocorticotropic hormone-independent Cushing syndrome|adrenal Cushing syndrome	http://purl.obolibrary.org/obo/MONDO_0020529	Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC).	ORPHA:99893|UMLS:CN207429
MONDO:0032581	nephrotic syndrome, type 18	biolink:Disease	mondo	DOID:0080393|OMIM:618177		NEPHROTIC SYNDROME, TYPE 18; NPHS18	http://purl.obolibrary.org/obo/MONDO_0032581		http://identifiers.org/omim/618177|DOID:0080393
UBERON:0004199	S-shaped body	biolink:AnatomicalEntity	mondo			stage II nephron|SSB	http://purl.obolibrary.org/obo/UBERON_0004199	The S-shaped body is the successor of the comma-shaped body that contributes to the morphogenesis of the nephron	
MONDO:0020528	ACTH-dependent Cushing syndrome	biolink:Disease	mondo	SCTID:190502001|EFO:1001110|DOID:3946|MedDRA:10035109|Orphanet:99892|ICD10:E24.0|MESH:D047748|UMLS:C0342442|SCTID:237734007	ordo_group_of_disorders	corticotropin-dependent Cushing syndrome|ACTH-dependent CS|adrenocorticotropic hormone-dependent Cushing syndrome|adrenocorticotropic hormone, inappropriate secretion|pituitary-dependent Cushing's disease|pituitary Cushing disease|pituitary Cushing diseases|ACTH hypersecretion, pituitary|overproduction of ACTH|pituitary-dependent Cushing disease|pituitary Cushing syndrome	http://purl.obolibrary.org/obo/MONDO_0020528	Adrenocorticotropic hormone dependent Cushing syndrome (ACTH-dependent CS) is a form of endogenous CS caused by abnormal production of ACTH due, in 80% of cases, to ACTH oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH).	UMLS:C0342442|SNOMEDCT:237734007|DOID:3946|SNOMEDCT:190502001|MESH:D047748|ORPHA:99892
MONDO:0020527	ectopic Cushing syndrome	biolink:Disease	mondo	UMLS:CN207427|DOID:0060890|ICD10:E24.3|Orphanet:99889	ordo_disease	Cushing syndrome due to ectopic ACTH secretion|ectopic ACTH secreting tumor|occult ectopic ACTH secretion|paraneoplastic Cushing syndrome|adrenocorticotropic hormone secretion syndrome|ectopic Cushing syndrome	http://purl.obolibrary.org/obo/MONDO_0020527	Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) is a form of ACTH-dependent Cushing syndrome caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor.	UMLS:CN207427|DOID:0060890|ORPHA:99889
MONDO:0019548	autosomal dominant intermediate Charcot-Marie-Tooth disease	biolink:Disease	mondo	UMLS:CN206376|ICD10:G60.0|GARD:0012436|Orphanet:90114	ordo_group_of_disorders	CMTDI|intermediate Charcot-Marie-Tooth disease, autosomal dominant|autosomal dominant intermediate Charcot-Marie-Tooth disease|autosomal dominant intermediate Charcot-Marie-Tooth	http://purl.obolibrary.org/obo/MONDO_0019548	Autosomal dominant form of intermediate Charcot-Marie-Tooth disease.	ORPHA:90114|UMLS:CN206376
MONDO:0020526	acute megakaryoblastic leukemia in down syndrome	biolink:Disease	mondo	UMLS:CN207426|Orphanet:99887|ICD10:C94.2	ordo_clinical_subtype	DS-AMKL	http://purl.obolibrary.org/obo/MONDO_0020526		UMLS:CN207426|ORPHA:99887
MONDO:0019547	Wells syndrome	biolink:Disease	mondo	Orphanet:901|ICD10:L98.3|MESH:C536693|ICD9:682.9|GARD:0000329|UMLS:C0343101|SCTID:238931006	ordo_disease|gard_rare	bullous cellulitis with eosinophilia|eosinophilic cellulitis|Wells' syndrome	http://purl.obolibrary.org/obo/MONDO_0019547	Wells syndrome is characterised by the presence of recurrent cellulitis-like eruptions with eosinophilia.	UMLS:C0343101|MESH:C536693|ORPHA:901|SNOMEDCT:238931006
MONDO:0020525	transient neonatal diabetes mellitus (disease)	biolink:Disease	mondo	ICD10:P70.2|SCTID:237603002|GARD:0001839|NCIT:C114899|Orphanet:99886|HP:0008255|DOID:0060334	ordo_disease	diabetes mellitus, 6q24-related transient neonatal|chromosome 6-associated transient diabetes mellitus|diabetes mellitus, transient neonatal|transient neonatal diabetes mellitus|TNDM	http://purl.obolibrary.org/obo/MONDO_0020525	Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.	DOID:0060334|NCIT:C114899|ORPHA:99886|SNOMEDCT:237603002
MONDO:0020524	primary parathyroid hyperplasia	biolink:Disease	mondo	ICD10:E21.0|Orphanet:99878	ordo_disease	hereditary parathyroids hyperplasia|familial parathyroids hyperplasia	http://purl.obolibrary.org/obo/MONDO_0020524		ORPHA:99878
HGNC:19439	KCNK18	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19439		
MONDO:0019549	severe early-onset axonal neuropathy due to MFN2 deficiency	biolink:Disease	mondo	SCTID:766977007|ICD10:G60.0|UMLS:CN206378|Orphanet:90118	ordo_disease	autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type|AR-CMT2, Ouvrier type|SEOAN due to MFN2 deficiency	http://purl.obolibrary.org/obo/MONDO_0019549	10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop.	ORPHA:90118|UMLS:CN206378|SNOMEDCT:766977007
MONDO:0020523	familial parathyroid adenoma	biolink:Disease	mondo	UMLS:C1840403|ICD10:E21.0|Orphanet:99877	ordo_disease	hereditary parathyroid gland adenoma	http://purl.obolibrary.org/obo/MONDO_0020523	An instance of parathyroid gland adenoma that is caused by an inherited modification of the individual's genome.	UMLS:C1840403|ORPHA:99877|MESH:C564166
MONDO:0019544	cocaine intoxication	biolink:Disease	mondo	ICD9:292.89|SCTID:27956007|ICD10:T40.5|Orphanet:90068	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019544		SNOMEDCT:27956007|ORPHA:90068
MONDO:0032588	periventricular nodular heterotopia 8	biolink:Disease	mondo	OMIM:618185		PERIVENTRICULAR NODULAR HETEROTOPIA 8; PVNH8	http://purl.obolibrary.org/obo/MONDO_0032588		http://identifiers.org/omim/618185
MONDO:0019543	acquired aneurysmal subarachnoid hemorrhage	biolink:Disease	mondo	Orphanet:90065|ICD10:I60.9|UMLS:CN206370	ordo_clinical_situation		http://purl.obolibrary.org/obo/MONDO_0019543	Acquired aneurysmal subarachnoid hemorrhage is a serious, life threatening rare neurologic disease characterized by a sudden rupture of an intracranial aneurysm into the subarachnoid space. It usually presents with a sudden, severe, excruciating headache accompanied by nausea, vomiting and syncope. Other features may include focal neurological signs, third and sixth nerve palsies, seizures and cardiac failure. Early complications include rebleeding, hydrocephalus, and seizures.	UMLS:CN206370|ORPHA:90065
HP:0004381	Supravalvular aortic stenosis	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:268185002|UMLS:C0003499|MSH:D021921|Fyler:1430			http://purl.obolibrary.org/obo/HP_0004381	A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow.	
MONDO:0032586	diarrhea 10, protein-losing enteropathy type	biolink:Disease	mondo	OMIM:618183		DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE; DIAR10	http://purl.obolibrary.org/obo/MONDO_0032586		http://identifiers.org/omim/618183
MONDO:0019546	other acquired skin disease	biolink:Disease	mondo	Orphanet:90077|UMLS:CN206373	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0019546		UMLS:CN206373|ORPHA:90077
MONDO:0019545	systemic monochloroacetate poisoning	biolink:Disease	mondo	ICD10:T60.3|Orphanet:90069	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019545	Systemic monochloroacetate poisoning is a rare, life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterized by vomiting, diarrhea and central nervous system (CNS)-excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by CNS-depression, coma and cerebral edema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalemia, hypocalcemia and progressive renal failure leading to anuria. Myoglobinemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours.	ORPHA:90069
MONDO:0019540	diffuse alveolar hemorrhage (disease)	biolink:Disease	mondo	ICD10:J98.4|UMLS:CN206369|Orphanet:90060|HP:0025420	ordo_clinical_situation	diffuse alveolar hemorrhage	http://purl.obolibrary.org/obo/MONDO_0019540		UMLS:CN206369|ORPHA:90060
MONDO:0032584	ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	biolink:Disease	mondo	OMIM:618180|DOID:0111662		ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS; ECTD14	http://purl.obolibrary.org/obo/MONDO_0032584		http://identifiers.org/omim/618180|DOID:0111662
MONDO:0019542	acute liver failure	biolink:Disease	mondo	SCTID:197270009|Orphanet:90062|MedDRA:10000804|NCIT:C84396|ICD10:K72.0|MESH:D017114|UMLS:C0162557	ordo_clinical_situation	acute hepatic failure|fulminant hepatic failure	http://purl.obolibrary.org/obo/MONDO_0019542	Rapid deterioration of liver function causing encephalopathy and coagulopathy. It results from damage to the liver parenchyma usually secondary to acetaminophen overdose or viral infections.	UMLS:C0162557|SNOMEDCT:197270009|MESH:D017114|NCIT:C84396|MEDDRA:10000804|ORPHA:90062
MONDO:0032582	nephrotic syndrome, type 19	biolink:Disease	mondo	DOID:0080394|OMIM:618178		NEPHROTIC SYNDROME, TYPE 19; NPHS19	http://purl.obolibrary.org/obo/MONDO_0032582		http://identifiers.org/omim/618178|DOID:0080394
MONDO:0019541	non-infectious posterior uveitis	biolink:Disease	mondo	Orphanet:90061|ICD10:H30.1|ICD10:H30.0	ordo_group_of_disorders	non-infectious choroiditis	http://purl.obolibrary.org/obo/MONDO_0019541		ORPHA:90061
MONDO:0032583	microcephaly 24, primary, autosomal recessive	biolink:Disease	mondo	OMIM:618179		MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE; MCPH24	http://purl.obolibrary.org/obo/MONDO_0032583		http://identifiers.org/omim/618179
FOODON:03411134	mammal	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03411134	Mammals (from Latin mamma "breast") are vertebrate animals constituting the class Mammalia, and characterized by the presence of mammary glands which in females produce milk for feeding (nursing) their young, a neocortex (a region of the brain), fur or hair, and three middle ear bones.	
HP:0031983	Abnormal pulmonary thoracic imaging finding	biolink:PhenotypicFeature	mondo			Abnormal chest radiograph finding (lung)	http://purl.obolibrary.org/obo/HP_0031983	This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density.	
GO:0030057	desmosome	biolink:OntologyClass	mondo			macula adherens|spot desmosome	http://purl.obolibrary.org/obo/GO_0030057	A cell-cell junction in which: on the cytoplasmic surface of each interacting plasma membrane is a dense plaque composed of a mixture of intracellular anchor proteins; a bundle of keratin intermediate filaments is attached to the surface of each plaque; transmembrane adhesion proteins of the cadherin family bind to the plaques and interact through their extracellular domains to hold the adjacent membranes together by a Ca2+-dependent mechanism.	
GO:0030054	cell junction	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0030054	A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella.	
MONDO:0020591	disease of peritoneum	biolink:Disease	mondo	NCIT:C26848|SCTID:66579008|MESH:D010532|UMLS:C0031142		disorder of peritoneum|peritoneal disorder|disease or disorder of peritoneum|disease of peritoneum|peritoneal disease|peritoneum disease|peritoneum disease or disorder	http://purl.obolibrary.org/obo/MONDO_0020591	A non-neoplastic or neoplastic disorder that affects the peritoneal cavity. Representative examples of non-neoplastic disorders include peritonitis and panniculitis. Representative examples of neoplastic disorders include adenomatoid tumor, primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma.	SNOMEDCT:66579008|MESH:D010532|NCIT:C26848|UMLS:C0031142
MONDO:0020590	mycobacterial infectious disease	biolink:Disease	mondo	UMLS:C0026918|MESH:D009164|SCTID:88415009|NCIT:C26831		mycobacterial infection|mycobacterium infection|mycobacteriosis	http://purl.obolibrary.org/obo/MONDO_0020590	Infection due to organisms from the genus Mycobacteria.	SNOMEDCT:88415009|NCIT:C26831|MESH:D009164|UMLS:C0026918
FOODON:03411142	aquatic invertebrate animal (excluding shellfish)	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03411142	Aquatic animals other than fish and shellfish	
MONDO:0020599	acquired coagulation factor deficiency	biolink:Disease	mondo	SCTID:25904003|NCIT:C34347|UMLS:C0001169		acquired coagulation factor deficiency|acquired coagulation protein disease	http://purl.obolibrary.org/obo/MONDO_0020599	Deficiency of a coagulation factor that is not caused by genetic alterations. Causes include vitamin K deficiency, amyloidosis, and severe liver disease.	UMLS:C0001169|NCIT:C34347|SNOMEDCT:25904003
MONDO:0020598	malabsorption syndrome	biolink:Disease	mondo	SCTID:32230006|MESH:D008286|UMLS:C0024523|NCIT:C3214		malabsorption syndrome|malabsorption	http://purl.obolibrary.org/obo/MONDO_0020598	A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea.	MESH:D008286|UMLS:C0024523|NCIT:C3214|SNOMEDCT:32230006
MONDO:0020597	angiokeratoma of scrotum	biolink:Disease	mondo	SCTID:735082004|NCIT:C7752		angiokeratoma of the scrotum|scrotum angiokeratoma|angiokeratoma of fordyce|angiokeratoma of scrotum|scrotal fordyce-type angiokeratoma|scrotal angiokeratoma|fordyce angiokeratoma|fordyce-type angiokeratoma of the scrotum|fordyce-type angiokeratoma of scrotum	http://purl.obolibrary.org/obo/MONDO_0020597	An angiokeratoma that is located on the scrotum.	SNOMEDCT:735082004|NCIT:C7752
MONDO:0020596	mucin-producing carcinoma	biolink:Disease	mondo	NCIT:C27825		mucin-producing carcinoma	http://purl.obolibrary.org/obo/MONDO_0020596		NCIT:C27825
MONDO:0020595	disease of retroperitoneum	biolink:Disease	mondo	SCTID:734045002|NCIT:C27667		retroperitoneal disease|disease or disorder of retroperitoneal space|retroperitoneal space disease or disorder|retroperitoneal space disease|disease of retroperitoneal space|disorder of retroperitoneal space|retroperitoneal disorder	http://purl.obolibrary.org/obo/MONDO_0020595	A disease or disorder that involves the retroperitoneal space.	NCIT:C27667|SNOMEDCT:734045002
MONDO:0020594	abducens nerve disease	biolink:Disease	mondo	SCTID:398925009|NCIT:C27593		abducens nerve disease|abducens nerve disease or disorder|VIth nerve disorder|abducens nerve disorder|disorder of abducens nerve|disease of abducens nerve|disease or disorder of abducens nerve	http://purl.obolibrary.org/obo/MONDO_0020594	A non-neoplastic or neoplastic disorder affecting the abducens nerve (sixth cranial nerve).	NCIT:C27593|SNOMEDCT:398925009
MONDO:0020593	trichoblastoma	biolink:Disease	mondo	ICDO:8100/0|NCIT:C27132		trichogenic trichoblastoma|trichoepithelioma, benign|trichoblastoma|Brooke's tumor|trichoepithelioma|trichogenic adnexal tumor	http://purl.obolibrary.org/obo/MONDO_0020593	A benign hair follicle neoplasm with trichoblastic differentiation. It usually presents as a solitary papular lesion It most often presents on the head and neck area, but it may develop in any anatomic site containing hair follicles. Because of its benign nature, treatment usually is not required, provided that the diagnosis has been established with certainty.	NCIT:C27132
MONDO:0020592	disease of pharynx	biolink:Disease	mondo	NCIT:C26850|SCTID:75860007|GARD:0007266		chordate pharynx disease or disorder|chordate pharynx disease|disorder of chordate pharynx|pharyngeal disorder|disease of chordate pharynx|pharyngeal disease|disease or disorder of chordate pharynx	http://purl.obolibrary.org/obo/MONDO_0020592	A non-neoplastic or neoplastic disorder that affects the pharynx. Representative examples include pharyngitis and carcinoma.	SNOMEDCT:75860007|NCIT:C26850
OBO:mondo#may_be_merged_into	may_be_merged_into	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/mondo#may_be_merged_into		
MONDO:0020589	cardiac germ cell tumor	biolink:Disease	mondo	NCIT:C147005		cardiac germ cell tumor|heart germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0020589	A germ cell tumor that arises within the myocardium or cardiac chambers. The reported cases have been teratomas and yolk sac tumors.	NCIT:C147005
HGNC:19414	DPY19L2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19414		
HGNC:19412	ZMYND10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19412		
MONDO:0019591	panhypopituitarism	biolink:Disease	mondo	NCIT:C110940|MedDRA:10033662|Orphanet:90695|ICD9:253.2|COHD:30365|UMLS:C0242343|SCTID:32390006|ICD10:E23.0|DOID:9410	ordo_disease	Simmonds' disease|Simmond's disease|complete hypopituitarism	http://purl.obolibrary.org/obo/MONDO_0019591	Insufficient production of all the anterior pituitary hormones.	UMLS:C0242343|NCIT:C110940|SNOMEDCT:32390006|ORPHA:90695|MEDDRA:10033662|DOID:9410
MONDO:0020580	germinomatous germ cell tumor	biolink:Disease	mondo	NCIT:C121618|UMLS:C4054897		germinomatous germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0020580	A term that refers to germinoma, seminoma, or dysgerminoma.	NCIT:C121618|UMLS:C4054897
MONDO:0019590	rare endocrine growth disease	biolink:Disease	mondo	UMLS:CN206437|Orphanet:90692	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019590		ORPHA:90692|UMLS:CN206437
MONDO:0019593	46,XX disorder of sex development induced by fetal androgens excess	biolink:Disease	mondo	Orphanet:90776|ICD10:E25.0|UMLS:CN227655	ordo_group_of_disorders	46,XX DSD induced by fetal androgens excess	http://purl.obolibrary.org/obo/MONDO_0019593		UMLS:CN227655|ORPHA:90776
MONDO:0019592	obsolete disorder of sex development	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019592	In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of gonadal hormones in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included.	
MONDO:0032526	spinocerebellar ataxia 48	biolink:Disease	mondo	OMIM:618093|DOID:0111746		SPINOCEREBELLAR ATAXIA 48; SCA48	http://purl.obolibrary.org/obo/MONDO_0032526		http://identifiers.org/omim/618093|DOID:0111746
MONDO:0020588	lung PEComa	biolink:Disease	mondo	NCIT:C142783		lung pecomatous tumor|lung PEComa	http://purl.obolibrary.org/obo/MONDO_0020588	A lung tumor that arises from perivascular epithelioid cells (PECs).	NCIT:C142783
MONDO:0020587	factor XI deficiency	biolink:Disease	mondo	NCIT:C131739|SCTID:767713001		factor XI deficiency	http://purl.obolibrary.org/obo/MONDO_0020587	A coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood.	NCIT:C131739|SNOMEDCT:767713001
MONDO:0020586	factor V deficiency	biolink:Disease	mondo	NCIT:C131738|SCTID:4320005		factor V deficiency	http://purl.obolibrary.org/obo/MONDO_0020586	A coagulation disorder characterized by the partial or complete absence of factor V activity in the blood.	SNOMEDCT:4320005|NCIT:C131738
MONDO:0020585	anemia due to erythrocyte enzyme disorder	biolink:Disease	mondo	UMLS:C4329304|NCIT:C131630		anemia due to erythrocyte enzyme disorder	http://purl.obolibrary.org/obo/MONDO_0020585	Any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis.	UMLS:C4329304|NCIT:C131630
MONDO:0020584	anemia due to enzyme disorder	biolink:Disease	mondo	NCIT:C35472|UMLS:C0494226		anemia due to enzyme disorder	http://purl.obolibrary.org/obo/MONDO_0020584	Any form of anemia that results from the absence of, or the defective action of, any enzyme.	NCIT:C35472|UMLS:C0494226
MONDO:0020583	chromosome 17 abnormality	biolink:Disease	mondo	NCIT:C129438		chromosome 17 abnormality	http://purl.obolibrary.org/obo/MONDO_0020583	An irregularity in the structure of chromosome 17.	NCIT:C129438
MONDO:0020582	benign uterine ligament neoplasm	biolink:Disease	mondo	NCIT:C126493|UMLS:C0865093		benign uterine ligament neoplasm	http://purl.obolibrary.org/obo/MONDO_0020582	A non-metastasizing neoplasm that arises from the uterine ligament.	UMLS:C0865093|NCIT:C126493
MONDO:0020581	benign PEComa	biolink:Disease	mondo	UMLS:C3839685|NCIT:C121791		typical PEComa|benign PEComa, not otherwise specified|neoplasm with perivascular epithelioid cell differentiation, benign|benign PEComa|benign PEComa, nos|benign neoplasm with perivascular epithelioid cell differentiation	http://purl.obolibrary.org/obo/MONDO_0020581	A tumor with perivascular epithelioid cell differentiation characterized by the absence of pleomorphism and scarcity or absence of mitotic figures.	NCIT:C121791|UMLS:C3839685
MONDO:0020579	mucositis	biolink:Disease	mondo	NCIT:C115965		mucosa inflammation|inflammation of mucosa|mucositis	http://purl.obolibrary.org/obo/MONDO_0020579	Inflammation of the mucous membranes.	NCIT:C115965
MONDO:0020578	obsolete vitamin D deficiency	biolink:Disease	mondo	NCIT:C114830		vitamin D deficiency	http://purl.obolibrary.org/obo/MONDO_0020578	Abnormally low level of 25-hydroxyvitamin D in the blood.	NCIT:C114830
MONDO:0019599	primary lipodystrophy	biolink:Disease	mondo	ICD10:E88.1|Orphanet:90970	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019599	Primary lipodystrophies represent a heterogeneous group of very rare diseases characterized by a generalized or localized loss of body fat (lipoatrophy).	ORPHA:90970
MONDO:0019598	obsolete fragile X syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019598		
GO:0030031	cell projection assembly	biolink:OntologyClass	mondo			cell projection biogenesis|formation of a cell surface projection	http://purl.obolibrary.org/obo/GO_0030031	Formation of a prolongation or process extending from a cell, e.g. a flagellum or axon.	
MONDO:0019595	46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect	biolink:Disease	mondo	Orphanet:90786|UMLS:CN227657	ordo_group_of_disorders	46,XY DSD due to adrenal and testicular steroidogenesis defect	http://purl.obolibrary.org/obo/MONDO_0019595		UMLS:CN227657|ORPHA:90786
MONDO:0019594	46,XY disorder of sex development due to a testosterone synthesis defect	biolink:Disease	mondo	Orphanet:90783|UMLS:CN227656	ordo_group_of_disorders	46,XY DSD due to a testosterone synthesis defect	http://purl.obolibrary.org/obo/MONDO_0019594		UMLS:CN227656|ORPHA:90783
MONDO:0019597	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	biolink:Disease	mondo	Orphanet:90796|ICD10:E29.1|UMLS:CN206443	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019597	46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels.	ORPHA:90796|UMLS:CN206443
GO:0030030	cell projection organization	biolink:OntologyClass	mondo			cell surface structure organization and biogenesis|cell projection organization and biogenesis|cell projection organisation	http://purl.obolibrary.org/obo/GO_0030030	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon.	
MONDO:0019596	46,XY disorder of sex development due to testicular steroidogenesis defect	biolink:Disease	mondo	Orphanet:90787|UMLS:CN227658|ICD10:E29.1	ordo_group_of_disorders	46,XY DSD due to testicular steroidogenesis defect	http://purl.obolibrary.org/obo/MONDO_0019596		UMLS:CN227658|ORPHA:90787
MONDO:0019580	papular mucinosis of infancy	biolink:Disease	mondo	SCTID:717259002|UMLS:C4273966|Orphanet:90395|ICD10:L98.5	ordo_disease	cutaneous mucinosis of infancy	http://purl.obolibrary.org/obo/MONDO_0019580	Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk.	SNOMEDCT:717259002|ORPHA:90395|UMLS:C4273966
CHEBI:139590	primary alpha-hydroxy ketone	biolink:ChemicalSubstance	mondo			primary alpha-hydroxy-ketone|primary alpha-hydroxyketones|primary alpha-hydroxyketone|primary alpha-hydroxy-ketones|primary alpha-hydroxy ketones	http://purl.obolibrary.org/obo/CHEBI_139590	An alpha-hydroxy ketone in which the carbonyl group and the hydroxy group are linked by a -CH2 (methylene) group.	
MONDO:0019582	self-healing papular mucinosis	biolink:Disease	mondo	ICD10:L98.5|Orphanet:90397	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019582	Self-healing papular mucinosis is a rare form of localized lichen myxedematosus occurring primarily in children and characterized by the development of mucinous papules on various parts of the body (face, neck, trunk, and limbs) that resolve spontaneously within some weeks to months. Systemic symptoms can be observed such as fever, arthralgias and weakness.	ORPHA:90397
MONDO:0019581	acral persistent papular mucinosis	biolink:Disease	mondo	ICD10:L98.5|ICD9:701.8|Orphanet:90396|SCTID:238949006|UMLS:C0406660	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019581	Acral persistent papular mucinosis is a rare chronic form of localized lichen myxedematosus characterized by the development of multiple symmetrical skin-colored mucinous papules exclusively on the extensor surface of the hands and distal forearms.	SNOMEDCT:238949006|ORPHA:90396|UMLS:C0406660
CHEBI:139592	tertiary alpha-hydroxy ketone	biolink:ChemicalSubstance	mondo			tertiary alpha-hydroxy-ketone|tertiary alpha-hydroxyketones|tertiary alpha-hydroxyketone|tertiary alpha-hydroxy-ketones|tertiary alpha-hydroxy ketones	http://purl.obolibrary.org/obo/CHEBI_139592	An alpha-hydroxy ketone in which the carbonyl group and the hydroxy group are linked by a carbon bearing two organyl groups.	
GO:0032689	negative regulation of interferon-gamma production	biolink:OntologyClass	mondo			down regulation of interferon-gamma production|inhibition of interferon-gamma production|negative regulation of interferon-gamma biosynthetic process|downregulation of interferon-gamma production|negative regulation of type II interferon production|negative regulation of interferon-gamma secretion|down-regulation of interferon-gamma production	http://purl.obolibrary.org/obo/GO_0032689	Any process that stops, prevents, or reduces the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon.	
UBERON_CORE:transitively_distally_connected_to	transitively distally connected to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/uberon/core#transitively_distally_connected_to	.	
MONDO:0020577	childhood gonadal germ cell tumor	biolink:Disease	mondo	UMLS:C3899657|NCIT:C114801		gonadal germ cell tumor of childhood|pediatric gonadal germ cell tumor|pediatric gonadal germ cell tumor|childhood gonadal germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0020577	A germ cell tumor that arises from the testis or ovary and occurs during childhood.	UMLS:C3899657|NCIT:C114801
MONDO:0020576	cutaneous vasculitis	biolink:Disease	mondo	NCIT:C112210|UMLS:C0262988		cutaneous vasculitis	http://purl.obolibrary.org/obo/MONDO_0020576	Inflammation of the blood vessel wall characterized by palpable purpura.	NCIT:C112210|UMLS:C0262988
MONDO:0020575	polymorphic ventricular tachycardia	biolink:Disease	mondo	UMLS:C0344432|SCTID:251159007|NCIT:C111648|HP:0031677		ventricular tachycardia, polymorphic|polymorphic ventricular tachycardia	http://purl.obolibrary.org/obo/MONDO_0020575	A ventricular tachycardia that is irregular in rate and rhythm.	UMLS:C0344432|SNOMEDCT:251159007|NCIT:C111648
MONDO:0020574	central nervous system nongerminomatous germ cell tumor	biolink:Disease	mondo	NCIT:C100093|UMLS:C1696109		central nervous system nongerminomatous germ cell tumor|nongerminomatous GCT - CNS|nongerminomatous germ cell tumor of the CNS	http://purl.obolibrary.org/obo/MONDO_0020574	Germ cell tumors of the central nervous system other than germinoma. This category includes teratoma, choriocarcinoma, embryonal carcinoma, and yolk sac tumor.	NCIT:C100093|UMLS:C1696109
MONDO:0020573	inherited disease susceptibility	biolink:Disease	mondo	MESH:D020022	predisposition	genetic susceptibilities|susceptibilities, genetic|genetic predisposition|susceptibility, genetic|genetic predispositions|hereditary predisposition to disease|predispositions, genetic|hereditary disease susceptibility|genetic susceptibility|predisposition, genetic	http://purl.obolibrary.org/obo/MONDO_0020573	A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.	MESH:D020022
MONDO:0020572	complex regional pain syndrome type 2	biolink:Disease	mondo	MESH:D002422|UMLS:C0007462|ICD10:G56.4|SCTID:408751001|MedDRA:10007825|Orphanet:99994|DOID:3222|MedDRA:10064335|NCIT:C121572|EFO:1000854	ordo_clinical_subtype	Complex regional pain syndrome II|Complex regional pain syndrome, type II|causalgia|CRPS II	http://purl.obolibrary.org/obo/MONDO_0020572	Complex regional pain syndrome type 2 (CRPS2), or causalgia is a form of complex regional pain syndrome that develops after damage to a peripheral nerve and is characterized by spontaneous pain, allodynia and hyperalgesia, not necessarily limited to the territory of the injured nerve, as well as at some point, edema, changes in skin blood flow or sudomotor dysfunction in the pain area.	MESH:D002422|NCIT:C121572|ORPHA:99994|MEDDRA:10064335|DOID:3222|UMLS:C0007462|SNOMEDCT:408751001
MONDO:0020571	relapsing epidemic typhus	biolink:Disease	mondo	UMLS:CN207497|Orphanet:99991|ICD10:A75.0	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0020571		ORPHA:99991|UMLS:CN207497
MONDO:0020570	obsolete Brill-Zinsser disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0020570		
MONDO:0020569	intermediate DEND syndrome	biolink:Disease	mondo	UMLS:CN207495|Orphanet:99989	ordo_clinical_subtype	developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form	http://purl.obolibrary.org/obo/MONDO_0020569	Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome, a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy.	ORPHA:99989|UMLS:CN207495
MONDO:0020568	cutaneous myiasis	biolink:Disease	mondo	SCTID:240877000|ICD10:B87.0|UMLS:C0027031|Orphanet:99983	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020568		UMLS:C0027031|ORPHA:99983|SNOMEDCT:240877000
MONDO:0020567	apnea of prematurity	biolink:Disease	mondo	SCTID:276544005|ICD10:P28.4|NCIT:C98823|Orphanet:99981	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0020567	Apnea of prematurity is a developmental disorder affecting premature infants, likely secondary to an immaturity of respiratory control resulting in idiopathic pauses in breathing often associated with reduced heart rate and arterial blood oxygen levels. It may be exacerbated by concurrent neonatal diseases.	SNOMEDCT:276544005|ORPHA:99981|UMLS:C0475715|NCIT:C98823
MONDO:0019588	autosomal recessive nonsyndromic deafness	biolink:Disease	mondo	MESH:C564609|OMIM:607197|UMLS:C1846647|GARD:0001710|DOID:0050565|DC:0000110|OMIMPS:220290|ICD10:H90.3|UMLS:CN206424|Orphanet:90636	clingen|gard_rare|ordo_etiological_subtype|prototype_pattern	autosomal recessive non-syndromic sensorineural deafness type DFNB|nonsyndromic deafness, autosomal recessive|autosomal recessive non-syndromic neurosensory deafness type DFNB|autosomal recessive isolated sensorineural deafness type DFNB|autosomal recessive nonsyndromic genetic deafness|nonsyndromic genetic deafness, autosomal recessive|autosomal recessive isolated neurosensory deafness type DFNB|deafness, neurosensory nonsyndromic recessive, DFN|deafness, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0019588	Autosomal recessive form of nonsyndromic deafness.	UMLS:CN206424|UMLS:C1846647|http://identifiers.org/omim/607197|ORPHA:90636|DOID:0050565|MESH:C564609
MONDO:0019587	autosomal dominant nonsyndromic deafness	biolink:Disease	mondo	OMIMPS:124900|DOID:0050564|ICD10:H90.3|Orphanet:90635|UMLS:CN043649	clingen|ordo_etiological_subtype	autosomal dominant non-syndromic neurosensory hearing loss type DFNA|deafness, autosomal dominant|nonsyndromic deafness, autosomal dominant|autosomal dominant isolated sensorineural hearing loss type DFNA|autosomal dominant nonsyndromic deafness|autosomal dominant non-syndromic neurosensory deafness type DFNA|autosomal dominant non-syndromic sensorineural deafness type DFNA|autosomal dominant isolated sensorineural deafness type DFNA|autosomal dominant nonsyndromic genetic deafness|autosomal dominant isolated deafness|nonsyndromic genetic deafness, autosomal dominant|autosomal dominant nonsyndromic hearing loss and deafness|autosomal dominant isolated neurosensory hearing loss type DFNA|autosomal dominant non-syndromic sensorineural hearing loss type DFNA|autosomal dominant nonsyndromic hearing impairment|autosomal dominant isolated neurosensory deafness type DFNA|autosomal dominant deafness	http://purl.obolibrary.org/obo/MONDO_0019587	Autosomal dominant form of nonsyndromic deafness.	ORPHA:90635|DOID:0050564|UMLS:CN043649
CHEBI:139588	alpha-hydroxy ketone	biolink:ChemicalSubstance	mondo			alpha-hydroxyketone|alpha-hydroxy-ketones|alpha-hydroxy ketones|alpha-hydroxy-ketone|alpha-hydroxyketones	http://purl.obolibrary.org/obo/CHEBI_139588	An alpha-oxyketone that has a hydroxy group as the alpha-oxy moiety.	
MONDO:0019589	syndromic genetic deafness	biolink:Disease	mondo	SCTID:232333009|Orphanet:90642|ICD10:H90.3|UMLS:CN206426	ordo_group_of_disorders	syndromic hearing loss	http://purl.obolibrary.org/obo/MONDO_0019589		UMLS:CN206426|SNOMEDCT:232333009|ORPHA:90642
FOODON:03411161	cattle	biolink:OntologyClass	mondo			cow|Bos taurus Linnaeus, 1758	http://purl.obolibrary.org/obo/FOODON_03411161	Cattle (colloquially cows) are the most common type of large domesticated ungulates. They are a prominent modern member of the subfamily *Bovinae*, are the most widespread species of the genus *Bos*, and are most commonly classified collectively as *Bos taurus*... with three subspecies: *Bos taurus primigenius, Bos taurus indicus, Bos taurus taurus*.	
CHEBI:139589	retinoid anion	biolink:ChemicalSubstance	mondo			retinoid carboxylate anions|retinoid carboxylic acid anions|retinoates|retinoate|retinoid carboxylic acid anion|retinoid carboxylate anion|retinoid anions	http://purl.obolibrary.org/obo/CHEBI_139589	A carboxylic acid anion obtained by deprotonation of any retinoid carboxy group.	
MONDO:0019584	localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms	biolink:Disease	mondo	Orphanet:90399|ICD10:L98.5	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0019584	Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms is a form of atypical lichen myxedematosus, characterized by the appearance of several 2-4 mm erythematous waxy papules confined to a few sites that may be associated with either an immunoglobulin A (IgA) nephropathy in patients with acral persistent papular mucinosis; discrete papular lichen myxedematosus; a scleromyxedema-like involvement, with dysphagia, hoarseness, pulmonary involvement, and carpal tunnel syndrome; myositis without skin sclerosis; or paraproteinemia.	ORPHA:90399
MONDO:0019583	localized lichen myxedematosus with mixed features of different subtypes	biolink:Disease	mondo	Orphanet:90398|ICD10:L98.5	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0019583	Localized lichen myxedematosus (LM) with mixed features of different subtypes is a form of atypical lichen myxedematosus, characterized by mixed features of the 5 subtypes of localized LM which are: discrete papular LM, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and nodular LM.	ORPHA:90398
MONDO:0019586	X-linked nonsyndromic deafness	biolink:Disease	mondo	DOID:0050566|ICD10:H90.3|OMIMPS:304500|Orphanet:90625|UMLS:CN206422	clingen|gard_rare	X-linked deafness|nonsyndromic deafness, X-linked|X-linked isolated sensorineural deafness type DFN|X-linked isolated neurosensory deafness type DFN|X-linked non-syndromic neurosensory deafness type DFN|X-linked non-syndromic sensorineural hearing loss type DFN|X-linked isolated sensorineural hearing loss type DFN|X-linked isolated neurosensory hearing loss type DFN|X-linked non-syndromic neurosensory hearing loss type DFN|X-linked nonsyndromic genetic deafness|X-linked non-syndromic sensorineural deafness type DFN|nonsyndromic genetic deafness, X-linked	http://purl.obolibrary.org/obo/MONDO_0019586	X-linked form of nonsyndromic deafness.	ORPHA:90625|DOID:0050566|UMLS:CN206422
MONDO:0019585	scleromyxedema without monoclonal gammopathy	biolink:Disease	mondo	Orphanet:90400|ICD10:L98.5	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0019585	Scleromyxedema without monoclonal gammopathy is a form of atypical lichen myxedematosus, characterized by a generalized sclerodermoid infiltration of skin studded with multiple, firm papules of 1-3 mm in diameter involving face (leonine appearance), trunk, and limbs, without monoclonal gammopathy. The involvement of the face can be missing and pruritus may be prominent.	ORPHA:90400
MONDO:0007629	fragile site 10Q23	biolink:Disease	mondo	UMLS:C1850987|OMIM:136540		fragile site type 10Q23|fragile site 10Q23	http://purl.obolibrary.org/obo/MONDO_0007629		http://identifiers.org/omim/136540|UMLS:C1850987
MONDO:0007627	focal facial dermal dysplasia type I	biolink:Disease	mondo	Orphanet:79133|UMLS:CN776929|GARD:0008416|OMIM:136500|ICD10:Q82.8	ordo_clinical_subtype	focal facial dermal dysplasia type 1|hereditary symmetrical aplastic nevi of temples|bitemporal aplasia cutis congenita|FFDD type I|FFDD, type 1|Brauer syndrome|focal facial dermal dysplasia 1, Brauer type|FFDD1|focal facial dermal dysplasia 1, Brauer type; FFDD1	http://purl.obolibrary.org/obo/MONDO_0007627	Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD) characterized by congenital bitemporal cutis aplasia.	ORPHA:79133|UMLS:CN776929|UMLS:C1744559|MESH:C537068|UMLS:C2936827|MESH:C536385|http://identifiers.org/omim/136500
MONDO:0007628	foveal hypoplasia 1	biolink:Disease	mondo	UMLS:C3805604|GARD:0000406|OMIM:136520		PAX6 foveal hypoplasia|foveal hypoplasia, presenile cataract|foveal hypoplasia 1|foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract|O Donnell Pappas syndrome|foveal hypoplasia 1; FVH1|foveal hypoplasia type 1|foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts|foveal hypoplasia caused by mutation in PAX6|FVH1	http://purl.obolibrary.org/obo/MONDO_0007628	Any foveal hypoplasia in which the cause of the disease is a mutation in the PAX6 gene.	UMLS:C3805604|http://identifiers.org/omim/136520
MONDO:0007625	focal epithelial hyperplasia of the oral mucosa	biolink:Disease	mondo	UMLS:C1851009|MESH:C565008|OMIM:136400		focal epithelial hyperplasia of the oral mucosa	http://purl.obolibrary.org/obo/MONDO_0007625		UMLS:C1851009|MESH:C565008|http://identifiers.org/omim/136400
MONDO:0007626	familial congenital palsy of trochlear nerve	biolink:Disease	mondo	OMIM:136480|UMLS:C1850996|MESH:C565007|Orphanet:91498|GARD:0010355|ICD10:H49.1	ordo_disease|gard_rare	strabismus from Superior oblique palsy|hereditary fourth cranial nerve palsy|trochlear nerve palsy, familial congenital|fourth cranial nerve palsy, familial congenital|superior oblique oculomotor palsy, familial congenital	http://purl.obolibrary.org/obo/MONDO_0007626	An instance of fourth cranial nerve palsy that is caused by an inherited modification of the individual's genome.	ORPHA:91498|UMLS:C1850996|MESH:C565007|http://identifiers.org/omim/136480
MONDO:0007623	flushing of ears and somnolence	biolink:Disease	mondo	UMLS:C1851055|OMIM:136200		flushing of ears and somnolence	http://purl.obolibrary.org/obo/MONDO_0007623		UMLS:C1851055|http://identifiers.org/omim/136200
MONDO:0007624	Flynn-Aird syndrome	biolink:Disease	mondo	SCTID:239056006|MESH:C537066|Orphanet:2047|OMIM:136300|GARD:0002347|UMLS:C0343108|ICD10:Q87.8	ordo_disease|gard_rare	Flynn-Aird syndrome|cataracts, retinitis pigmentosa, sensorineural hearing loss, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy, chronic ulceration, dental|Flynn Aird syndrome	http://purl.obolibrary.org/obo/MONDO_0007624	Flynn-Aird syndrome is a neuroectodermal disorder involving the nervous, cutaneous, skeletal, and glandular systems. It has been described in 10 members from five generations of one family. Clinical manifestations include eye abnormalities (cataracts, retinitis pigmentosa, and myopia), sensorineural deafness, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy and striking dental caries. Patients also present with muscle wasting, joint stiffness and bone cysts. Flynn-Aird syndrome is transmitted as an autosomal dominant trait. It shows some similarities to the syndromes of Werner, Refsum and Cockayne.	ORPHA:2047|MESH:C537066|UMLS:C0343108|SNOMEDCT:239056006|http://identifiers.org/omim/136300
MONDO:0007621	floating-Harbor syndrome	biolink:Disease	mondo	DOID:0111358|GARD:0006455|Orphanet:2044|ICD9:759.89|MESH:C537062|SCTID:312214005|ICD10:Q87.8|OMIM:136140|UMLS:C0729582	gard_rare|ordo_malformation_syndrome	Pelletier-Leisti syndrome|short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes|floating-Harbor syndrome|FHS|FLHS|floating-HARBOR syndrome; FLHS	http://purl.obolibrary.org/obo/MONDO_0007621	Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.	SNOMEDCT:312214005|ORPHA:2044|MESH:C537062|http://identifiers.org/omim/136140|DOID:0111358|UMLS:C0729582
NCBITaxon:81852	Enterococcaceae	organism taxon	mondo	GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_81852		
MONDO:0007622	flood factor deficiency	biolink:Disease	mondo	UMLS:C1851056|OMIM:136150|MESH:C565009		flood factor deficiency	http://purl.obolibrary.org/obo/MONDO_0007622		UMLS:C1851056|http://identifiers.org/omim/136150|MESH:C565009
HP:0004319	Decreased circulating aldosterone level	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:60086000|UMLS:C0020595|MSH:D006994|UMLS:C0857899|UMLS:C1846226		Mineralocorticoid insufficiency|Decreased aldosterone production|Decreased serum aldosterone|Low blood aldosterone level|Hypoaldosteronism|Decreased aldosterone	http://purl.obolibrary.org/obo/HP_0004319	Abnormally reduced levels of aldosterone.	
MONDO:0007620	fish eye disease	biolink:Disease	mondo	GARD:0006450|SCTID:238092004|OMIM:136120|ICD10:E78.6|UMLS:C0342895|Orphanet:79292	gard_rare|ordo_clinical_subtype	alpha-LCAT deficiency|fed|alpha-lecithin:cholesterol acyltransferase deficiency|alpha-lecithin cholesterol acyltransferase deficiency|fish-eye disease; fed|fish eye disease|LCATA deficiency|dyslipoproteinemic corneal dystrophy|partial LCAT deficiency	http://purl.obolibrary.org/obo/MONDO_0007620	Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency.	SNOMEDCT:238092004|MESH:C538467|http://identifiers.org/omim/136120|ORPHA:79292|UMLS:C0342895
MONDO:0019618	Sheehan syndrome	biolink:Disease	mondo	MedDRA:10036297|GARD:0007630|SCTID:290653008|DOID:9476|ICD10:E23.0|UMLS:C0242342|Orphanet:91355|NCIT:C35300	ordo_malformation_syndrome	Sheehan's syndrome|postpartum hypopituitarism|postpartum pituitary necrosis|postpartum panhypopituitary syndrome|postpartum panhypopituitarism	http://purl.obolibrary.org/obo/MONDO_0019618	An uncommon cause of hypopituitarism seen after severe postpartum hemorrhaging. Prolonged hypovolemia leads to ischemic necrosis of the pituitary. Clinical signs typically present in the puerperium and include failure to begin lactation, fatigue, hypotension and eventual amenorrhea. Clinical course is usually mild, however extreme cases may progress to adrenal failure. Prognosis is most favorable when hormone replacement is initiated soon after symptom onset.	DOID:9476|SNOMEDCT:290653008|UMLS:C0242342|ORPHA:91355|MEDDRA:10036297|NCIT:C35300
UBERON:0004264	lower leg skin	biolink:AnatomicalEntity	mondo			hind limb zeugopod skin|hind limb middle limb segment skin	http://purl.obolibrary.org/obo/UBERON_0004264	A zone of skin that is part of a lower leg [Automatically generated definition].	
UBERON:0004265	outflow tract myocardium	biolink:AnatomicalEntity	mondo			outflow tract cardiac muscle|cardiac muscle of outflow tract|heart myocardium of outflow tract|outflow tract muscle of heart|heart muscle of outflow tract|muscle of heart of outflow tract|outflow tract heart muscle|myocardium of outflow tract|outflow tract heart myocardium	http://purl.obolibrary.org/obo/UBERON_0004265	A myocardium that is part of a outflow tract [Automatically generated definition].	
MONDO:0019617	pituitary deficiency due to empty sella turcica syndrome	biolink:Disease	mondo	SCTID:715668008|UMLS:C4275064|Orphanet:91354|ICD10:E23.0|UMLS:CN206468	ordo_disease	hypopituitarism due to empty sella turcica syndrome	http://purl.obolibrary.org/obo/MONDO_0019617		UMLS:CN206468|SNOMEDCT:715668008|UMLS:C4275064|ORPHA:91354
HP:0004313	Decreased circulating antibody level	biolink:PhenotypicFeature	mondo	MSH:D000361|SNOMEDCT_US:119250001|UMLS:C4048270|UMLS:C0086438		Decreased immunoglobulin level|Decreased antibody level in blood|Reduced immunoglobulin levels|Hypogammaglobulinemia|Immunoglobulin deficiency|Decreased serum immunoglobulin	http://purl.obolibrary.org/obo/HP_0004313	An abnormally decreased level of immunoglobulin in blood.	
UBERON:0004262	upper leg skin	biolink:AnatomicalEntity	mondo			thigh skin|hind limb stylopod skin|hindlimb stylopod skin|skin of thigh|skin of upper leg	http://purl.obolibrary.org/obo/UBERON_0004262	A zone of skin that is part of a hindlimb stylopod [Automatically generated definition].	
MONDO:0019619	duplication of the esophagus	biolink:Disease	mondo	ICD10:Q39.8|Orphanet:91357	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019619		ORPHA:91357
UBERON:0004263	upper arm skin	biolink:AnatomicalEntity	mondo			skin of arm stylopod|arm stylopod skin|skin of upper arm	http://purl.obolibrary.org/obo/UBERON_0004263	A zone of skin that is part of a forelimb stylopod [Automatically generated definition].	
UBERON:0004260	upper arm blood vessel	biolink:AnatomicalEntity	mondo			forelimb stylopod blood vessel	http://purl.obolibrary.org/obo/UBERON_0004260	A blood vessel that is part of a forelimb stylopod [Automatically generated definition].	
MONDO:0019614	pituitary deficiency due to Rathke's pouch cysts	biolink:Disease	mondo	ICD10:E23.0|Orphanet:91350	ordo_disease	pituitary deficiency due to Rathke's cleft cysts	http://purl.obolibrary.org/obo/MONDO_0019614		ORPHA:91350
MONDO:0019613	non-functioning pituitary adenoma	biolink:Disease	mondo	SCTID:254962005|Orphanet:91349|ICD10:D35.2|DOID:5715|EFO:0008516|NCIT:C4348	ordo_disease	non-functioning pituitary gland adenoma|functionless adenoma of the pituitary gland|non-functioning pituitary adenoma|functionless adenoma of pituitary gland|functionless adenoma of the pituitary|functionless adenoma of pituitary|non-secretory pituitary gland adenoma|non-functioning neoplasm of the pituitary|silent pituitary gland adenoma|non-secretory adenoma of the pituitary gland|non-secretory pituitary adenoma|non-secretory adenoma of pituitary gland|non-secretory adenoma of the pituitary|non-secretory adenoma of pituitary|functionless pituitary gland adenoma|nonfunctional pituitary gland adenoma|non-functioning adenoma of the pituitary gland|functionless pituitary adenoma|non-functioning adenoma of pituitary gland|non-functioning adenoma of the pituitary|NFPA|non-functioning adenoma of pituitary	http://purl.obolibrary.org/obo/MONDO_0019613	A hormone producing or non-producing pituitary gland adenoma not associated with a hormonal syndrome.	NCIT:C4348|SNOMEDCT:254962005|ORPHA:91349|DOID:5715
UBERON:0004261	lower leg blood vessel	biolink:AnatomicalEntity	mondo			hindlimb zeugopod blood vessel	http://purl.obolibrary.org/obo/UBERON_0004261	A blood vessel that is part of a lower leg [Automatically generated definition].	
MONDO:0019616	obsolete germinoma of the central nervous system	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019616		
MONDO:0019615	pituitary dermoid and epidermoid cysts	biolink:Disease	mondo	Orphanet:91351	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019615		ORPHA:91351
MONDO:0019610	Zollinger-Ellison syndrome	biolink:Disease	mondo	GARD:0007918|UMLS:C0043515|MESH:D015043|HP:0002044|ICD10:E16.4|NCIT:C3453|DOID:0050782|Orphanet:913|ICD10:D37.7|EFO:0007549|ICD10:C25.4|MedDRA:10017852|SCTID:53132006	ordo_disease	Z-E syndrome|pancreatic ulcerogenic tumor syndrome|Zollinger-Ellison syndrome (disease)|ZES|Z E syndrome|Zollinger Ellison syndrome|Zollinger-Ellison syndrome|gastrinoma	http://purl.obolibrary.org/obo/MONDO_0019610	Zollinger-Ellison syndrome (ZES) is characterized by severe peptic disease (ulcers/esophageal disease) caused by hypergastrinemia secondary to a gastrinoma resulting in increased gastric acid secretion.	UMLS:C0017150|MESH:D015043|NCIT:C3453|SNOMEDCT:53132006|MESH:D015408|UMLS:C0043515|DOID:0050782|ORPHA:913|MEDDRA:10017852
HGNC:2678	DARS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2678		
MONDO:0019612	functioning gonadotropic adenoma	biolink:Disease	mondo	UMLS:C0346304|Orphanet:91348|ICD10:D35.2|SCTID:254960002	ordo_disease	gonadotroph adenoma|functioning pituitary gonadotropic adenoma	http://purl.obolibrary.org/obo/MONDO_0019612	Functioning gonadotropic adenoma is a very rare pituitary tumor, macroscopically characterized by a soft, well vascularized, variable sized adenoma, with occasional areas of hemorrage or necrosis, that secretes biologically active gonadotropins. In addition to common neurological signs due to mass effect (headache and/or visual field deterioration), additional clinical manifestations include menstrual irregularities (secondary amenorrhea, oligomenorhea or severe menorrhagia), galactorrhea, infertility or ovarian hyperstimulation syndrome (in premenopausal women), testicular enlargement and, occasionally, hypogonadism (in men) and isosexual precocious puberty (in children).	UMLS:C0346304|SNOMEDCT:254960002|ORPHA:91348
MONDO:0019611	TSH-secreting pituitary adenoma	biolink:Disease	mondo	NCIT:C8011|ICD10:D35.2|Orphanet:91347|UMLS:C0346303	ordo_disease	TSH secreting adenoma of pituitary gland|TSHoma|TSH secreting adenoma of the pituitary|thyroid stimulating hormone-secreting pituitary adenoma|thyrotrophic adenoma|TSH secreting adenoma of pituitary|TSH secreting pituitary gland adenoma|thyroid stimulating hormone producing adenoma of the pituitary gland|TSH-oma|TSH secreting pituitary adenoma|TSH-producing pituitary gland adenoma|thyroid stimulating hormone producing adenoma of pituitary gland|thyroid stimulating hormone producing adenoma of the pituitary|thyroid stimulating hormone producing adenoma of pituitary|thyroid stimulating hormone secreting pituitary gland adenoma|TSH producing pituitary gland adenoma|TSH producing adenoma of the pituitary gland|TSH-producing adenoma|thyroid stimulating hormone secreting pituitary adenoma|TSH producing pituitary adenoma|thyroid stimulating hormone secreting adenoma of the pituitary gland|thyrotroph adenoma|TSH producing adenoma of pituitary gland|thyrotropin producing pituitary gland adenoma|thyroid stimulating hormone secreting adenoma of pituitary gland|TSH producing adenoma of the pituitary|thyroid stimulating hormone secreting adenoma of the pituitary|thyroid stimulating hormone secreting adenoma of pituitary|thyroid stimulating hormone producing pituitary gland adenoma|thyrotropinoma|TSH producing adenoma of pituitary|pituitary thyrotrophic adenoma|thyrotrope adenoma|thyroid stimulating hormone producing pituitary adenoma|TSH secreting adenoma of the pituitary gland|thyroid stimulating hormone-producing adenoma	http://purl.obolibrary.org/obo/MONDO_0019611	A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism.	UMLS:C0346303|ORPHA:91347|NCIT:C8011
UBERON:0004268	lower arm connective tissue	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004268	A portion of connective tissue that is part of a lower arm [Automatically generated definition].	
UBERON:0004269	upper arm connective tissue	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004269	A portion of connective tissue that is part of a forelimb stylopod [Automatically generated definition].	
UBERON:0004266	upper leg connective tissue	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004266	A portion of connective tissue that is part of a hindlimb stylopod [Automatically generated definition].	
HGNC:2671	DAO	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2671		
UBERON:0004267	back connective tissue	biolink:AnatomicalEntity	mondo			mesenchyne of back	http://purl.obolibrary.org/obo/UBERON_0004267	A portion of connective tissue that is part of a back [Automatically generated definition].	
MONDO:0007638	fucosidase regulator	biolink:Disease	mondo	OMIM:136830		fucosidase regulator|Alpha-L-fucosidase regulator	http://purl.obolibrary.org/obo/MONDO_0007638		http://identifiers.org/omim/136830
MONDO:0007639	fundus albipunctatus	biolink:Disease	mondo	DOID:11105|COHD:373472|ICD9:362.74|ICD10:H35.5|ICD9:362.76|MESH:C562733|Orphanet:227796|OMIM:136880|ICD10:H35.52|SCTID:68222009	ordo_disease	pigmentary retinal dystrophy|fundus albipunctatus|retinitis punctata albescens	http://purl.obolibrary.org/obo/MONDO_0007639	Fundus albipunctatus is a rare, genetic retinal dystrophy characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.	DOID:11105|SNOMEDCT:68222009|MESH:C562733|ORPHA:227796|http://identifiers.org/omim/136880
MONDO:0007636	frontorhiny	biolink:Disease	mondo	GARD:0012642|ICD10:Q75.8|OMIM:136760|Orphanet:391474	ordo_malformation_syndrome	FND1|isolated median cleft face syndrome|ALX3-related frontonasal dysplasia|frontorhiny|frontonasal dysplasia type 1|frontonasal dysplasia|isolated median cleft syndrome|median Facial cleft syndrome|frontonasal dysplasia 1|frontonasal dysplasia 1; FND1|frontonasal malformation	http://purl.obolibrary.org/obo/MONDO_0007636	Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed.	ORPHA:391474|http://identifiers.org/omim/136760
MONDO:0007637	corneal dystrophy, Fuchs endothelial, 1	biolink:Disease	mondo	UMLS:C1850959|OMIM:136800|MESH:C535478		corneal dystrophy, Fuchs endothelial, early-onset|corneal dystrophy, Fuchs endothelial, 1; FECD1|Fuchs' endothelial dystrophy caused by mutation in COL8A2|corneal dystrophy, Fuchs endothelial, 1|corneal dystrophy, Fuchs endothelial, type 1|FECD1|COL8A2 Fuchs' endothelial dystrophy	http://purl.obolibrary.org/obo/MONDO_0007637	Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the COL8A2 gene.	UMLS:C1850959|MESH:C535478|http://identifiers.org/omim/136800
NCBITaxon:29263	tick-borne encephalitis virus group	organism taxon	mondo	GC_ID:1		Tick-borne encephalitis viruses	http://purl.obolibrary.org/obo/NCBITaxon_29263		
MONDO:0007634	intellectual disability, FRA12A type	biolink:Disease	mondo	OMIM:136630|UMLS:C1969893|MESH:C566980		intellectual disability, FRA12A type|mental retardation, FRA12A type	http://purl.obolibrary.org/obo/MONDO_0007634		UMLS:C1969893|http://identifiers.org/omim/136630|MESH:C566980
MONDO:0007635	Frasier syndrome	biolink:Disease	mondo	Orphanet:347|GARD:0002375|ICD9:759.89|NCIT:C122805|ICD10:N04.1|OMIM:136680|UMLS:C0950122|DOID:0050438|MESH:D052159|SCTID:445431000	ordo_disease|gard_rare	Frasier syndrome	http://purl.obolibrary.org/obo/MONDO_0007635	Frasier syndrome is characterised by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma.	SNOMEDCT:445431000|NCIT:C122805|UMLS:C0950122|ORPHA:347|DOID:0050438|http://identifiers.org/omim/136680|MESH:D052159
MONDO:0007632	obsolete fragile site, Distamycin a type, rare, fra(16)(q22.1)	biolink:Disease	mondo	OMIM:136580		fragile site 16Q22|fragile site, Distamycin a type, rare, fra(16)(q22.1)|fragile site, DISTAMYCIN A type, RARE, fra(16)(q22.1); FRA16B|FRA16B	http://purl.obolibrary.org/obo/MONDO_0007632		http://identifiers.org/omim/136580
CHEBI:33405	hydracid	biolink:ChemicalSubstance	mondo			hydracids|hydracid	http://purl.obolibrary.org/obo/CHEBI_33405	A hydracid is a compound which contains hydrogen that is not bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons).	
MONDO:0007633	Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness	biolink:Disease	mondo	MESH:C564999|OMIM:136600|UMLS:C1850982		Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness	http://purl.obolibrary.org/obo/MONDO_0007633		UMLS:C1850982|http://identifiers.org/omim/136600|MESH:C564999
MONDO:0007630	North Carolina macular dystrophy	biolink:Disease	mondo	GARD:0009179|MESH:C537835|ICD10:H35.5|OMIM:136550|UMLS:C0730294|SCTID:312925009|Orphanet:75327	ordo_disease|gard_rare	North Carolina macular dystrophy|macular dystrophy, retinal, 1, NORTH Carolina type; MCDR1|retinal pigment epithelial dystrophy central|central retinal pigment epithelial dystrophy|foveal dystrophy, progressive, formerly|progressive foveal dystrophy|macular dystrophy, retinal, 1, NORTH Carolina type|MCDR1|foveal dystrophy, progressive|North Carolina macular dystrophy, retinal 1|central areolar pigment epithelial dystrophy|retinal pigment epithelial dystrophy, central|NCMD|foveal dystrophy progressive|CAPE dystrophy|caped|macular dystrophy retinal 1 North Carolina type	http://purl.obolibrary.org/obo/MONDO_0007630	North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination.	UMLS:C0730294|ORPHA:75327|MESH:C537835|http://identifiers.org/omim/136550|SNOMEDCT:312925009
NCBITaxon:42231	Mansonella perstans	organism taxon	mondo	GC_ID:1		Dipetalonema perstans	http://purl.obolibrary.org/obo/NCBITaxon_42231		
MONDO:0007631	chromosome 16p12.1 deletion syndrome, 520kb	biolink:Disease	mondo	OMIM:136570|NCIT:C129875|DOID:0060399|MESH:C565001		chromosome 16p12.1 deletion syndrome|chromosome 16p12.1 deletion syndrome, type 520kb|fragile site, Distamycin a type, Rare, fra(16)(p12.1)|fragile site 16P12|chromosome 16p12.1 deletion syndrome, 520-KB	http://purl.obolibrary.org/obo/MONDO_0007631	A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects.	MESH:C565001|http://identifiers.org/omim/136570|NCIT:C129875|DOID:0060399
NCBITaxon:42230	Mansonella	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_42230		
CHEBI:33408	pnictogen oxoacid	biolink:ChemicalSubstance	mondo			pnictogen oxoacids	http://purl.obolibrary.org/obo/CHEBI_33408		
NCBITaxon:66225	Phaeoannellomyces	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_66225		
HP:0004325	Decreased body weight	biolink:PhenotypicFeature	mondo	UMLS:C1262477|UMLS:C1844806|MSH:D013851|SNOMEDCT_US:89362005|SNOMEDCT_US:262285001|MSH:D015431|SNOMEDCT_US:248342006|UMLS:C0041667|SNOMEDCT_US:161832001		Weight less than 3rd percentile|Low weight|Decreased weight|Decreased body weight|Low body weight	http://purl.obolibrary.org/obo/HP_0004325	Abnormally low body weight.	
UBERON:0004253	skin muscle	biolink:AnatomicalEntity	mondo			skin muscle organ|integumental system muscle|muscle of integumental system|muscle organ of skin	http://purl.obolibrary.org/obo/UBERON_0004253	Any muscle organ that is part of a skin of body [Automatically generated definition].	
MONDO:0019607	unspecified juvenile idiopathic arthritis	biolink:Disease	mondo	ICD10:M08.8|Orphanet:91140	ordo_disease	unspecified JIA	http://purl.obolibrary.org/obo/MONDO_0019607	Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes.	ORPHA:91140
HP:0004324	Increased body weight	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:8943002|MSH:D015430|SNOMEDCT_US:161831008|SNOMEDCT_US:262286000|UMLS:C0043094		Increased body weight|Weight gain	http://purl.obolibrary.org/obo/HP_0004324	Abnormally increased body weight.	
UBERON:0004254	forelimb zeugopod muscle	biolink:AnatomicalEntity	mondo			muscle of forearm|lower arm muscle|forearm muscle|wing zeugopod muscle	http://purl.obolibrary.org/obo/UBERON_0004254	Any muscle organ that is part of a forelimb zeugopod (lower arm)[Automatically generated definition].	
MONDO:0019606	simple cryoglobulinemia	biolink:Disease	mondo	SCTID:723674005|UMLS:C4510006|Orphanet:91139|ICD10:D89.1|UMLS:CN206459	ordo_disease	cryoglobulinemia type 1	http://purl.obolibrary.org/obo/MONDO_0019606	Simple (monoclonal) cryoglobulinemia or type I cryoglobulinemia refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C.	UMLS:CN206459|SNOMEDCT:723674005|UMLS:C4510006|ORPHA:91139
HP:0004323	Abnormality of body weight	biolink:PhenotypicFeature	mondo	UMLS:C4025357|UMLS:C0878621		Abnormality of habitus|Abnormality of body weight	http://purl.obolibrary.org/obo/HP_0004323	An abnormal increase or decrease of weight or an abnormal distribution of mass in the body.	
UBERON:0004251	hindlimb zeugopod bone	biolink:AnatomicalEntity	mondo			bone organ of hind limb zeugopod|zeugopod of hind limb bone organ|bone of hindlimb middle limb segment|intermediate segment of free lower limb bone organ|bone organ of inferior member zeugopod|zeugopod of inferior member bone organ|bone of zeugopod of leg|zeugopod of hind limb bone|bone of middle limb segment of hindlimb|lower leg bone|bone of hind limb zeugopod|bone organ of middle limb segment of hindlimb|intermediate segment of free lower limb bone|bone of inferior member zeugopod|bone organ of zeugopod of leg|zeugopod of inferior member bone|bone of zeugopod of inferior member|middle limb segment of hind limb bone organ|bone of intermediate segment of free lower limb|middle limb segment of hindlimb bone organ|zeugopod of leg bone organ|bone organ of zeugopod of hindlimb|middle limb segment of hindlimb bone|bone organ of intermediate segment of free lower limb|bone of lower leg|middle limb segment of hind limb bone|bone of zeugopod of hind limb|middle limb segment of inferior member bone organ|zeugopod of leg bone|bone organ of zeugopod of inferior member|bone of zeugopod of hindlimb|bone organ of middle limb segment of inferior member|bone organ of lower leg|middle limb segment of inferior member bone|bone organ of zeugopod of hind limb|bone organ of middle limb segment of hind limb|bone of middle limb segment of inferior member|zeugopod of hindlimb bone organ|lower extremity middle limb segment bone organ|zeugopod of hindlimb bone|bone of middle limb segment of hind limb|bone of inferior member middle limb segment|bone of hind limb middle limb segment|inferior member zeugopod bone organ|lower extremity middle limb segment bone|bone organ of inferior member middle limb segment|hind limb zeugopod bone organ|bone of hindlimb zeugopod|bone of zeugopod of lower extremity|bone organ of hind limb middle limb segment|inferior member zeugopod bone|bone organ of zeugopod of lower extremity|hind limb zeugopod bone|bone organ of hindlimb zeugopod|hindlimb middle limb segment bone organ|hindlimb zeugopod bone organ|zeugopod of lower extremity bone organ|bone organ of lower extremity zeugopod|bone organ of middle limb segment of lower extremity|hindlimb middle limb segment bone|hindlimb zeugopod bone|bone of lower extremity zeugopod|bone of middle limb segment of lower extremity|zeugopod of lower extremity bone|hind limb middle limb segment bone organ|bone of lower extremity middle limb segment|hind limb middle limb segment bone|inferior member middle limb segment bone organ|lower extremity zeugopod bone organ|bone organ of lower extremity middle limb segment|middle limb segment of lower extremity bone organ|inferior member middle limb segment bone|middle limb segment of lower extremity bone|lower extremity zeugopod bone|bone organ of hindlimb middle limb segment	http://purl.obolibrary.org/obo/UBERON_0004251	A bone that is part of a lower leg [Automatically generated definition].	
MONDO:0019609	Zellweger syndrome	biolink:Disease	mondo	SCTID:88469006|Orphanet:912|GARD:0007917|MESH:D015211|ICD10:E71.510|ICD10:Q87.8|UMLS:C0043459|DOID:905|NCIT:C85239	ordo_disease	peroxisome biogenesis disorder|ZS|congenital iron overload|cerebrohepatorenal syndrome|Zellweger leukodystrophy|ZWS	http://purl.obolibrary.org/obo/MONDO_0019609	Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.	SNOMEDCT:88469006|DOID:905|ORPHA:912|NCIT:C85239|MESH:D015211|UMLS:C0043459
MONDO:0019608	46,XX disorder of sex development induced by maternal-derived androgen	biolink:Disease	mondo	Orphanet:91144|UMLS:CN227662|ICD10:Q56.2	ordo_group_of_disorders	46,XX DSD induced by maternal-derived androgen	http://purl.obolibrary.org/obo/MONDO_0019608		ORPHA:91144|UMLS:CN227662
UBERON:0004252	hindlimb stylopod muscle	biolink:AnatomicalEntity	mondo			upper leg muscle|muscle of thigh|thigh muscle	http://purl.obolibrary.org/obo/UBERON_0004252	Any muscle organ that is part of a hindlimb stylopod (upper leg)[Automatically generated definition].	
HP:0004322	Short stature	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:237836003|UMLS:C0349588		Height less than 3rd percentile|Short stature|Stature below 3rd percentile|Decreased body height|Small stature	http://purl.obolibrary.org/obo/HP_0004322	A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).	
HP:0004329	Abnormal posterior eye segment morphology	biolink:PhenotypicFeature	mondo	UMLS:C4025354		Abnormality of the posterior segment of the globe|Abnormal morphology of the posterior segment of the globe|Abnormality of the posterior segment of the eye|Abnormality of the posterior segment of the eyeball	http://purl.obolibrary.org/obo/HP_0004329		
MONDO:0019603	osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome	biolink:Disease	mondo	UMLS:CN206455|SCTID:722111004|ICD10:Q87.5|Orphanet:91133	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0019603	Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome is characterised by severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopaenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked.	UMLS:CN206455|ORPHA:91133|SNOMEDCT:722111004
MONDO:0019602	other inborn metabolic disease	biolink:Disease	mondo	UMLS:CN206450|Orphanet:91088	obsoletion_candidate|ordo_group_of_disorders	other metabolic disease	http://purl.obolibrary.org/obo/MONDO_0019602		UMLS:CN206450|ORPHA:91088
HP:0004328	Abnormal anterior eye segment morphology	biolink:PhenotypicFeature	mondo	UMLS:C4025355		Abnormality of the anterior segment of the eye|Abnormality of the anterior segment of the eyeball|Abnormality of the anterior segment of the globe|Abnormal anterior segment morphology	http://purl.obolibrary.org/obo/HP_0004328	An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens).	
UBERON:0004250	upper arm bone	biolink:AnatomicalEntity	mondo			humerus	http://purl.obolibrary.org/obo/UBERON_0004250	A bone that is part of a forelimb stylopod [Automatically generated definition].	
CHEBI:33402	sulfur oxoacid	biolink:ChemicalSubstance	mondo			sulfur oxoacids|oxoacids of sulfur	http://purl.obolibrary.org/obo/CHEBI_33402		
MONDO:0019605	immunotactoid or fibrillary glomerulopathy	biolink:Disease	mondo	ICD10:N03.6|Orphanet:91137|GARD:0012741	ordo_group_of_disorders|gard_rare	Immunotactoid or fibrillary glomerulonephritis|fibrillary glomerulonephritis and immunotactoid glomerulopathy	http://purl.obolibrary.org/obo/MONDO_0019605	Immunotactoid or fibrillary glomerulopathy is a group of very rare glomerular diseases, composed of immunotactoid glomerulopathy (ITG) and non-amyloid fibrillary glomerulopathy (non-amyloid FGP), that are characterized by mesangial deposition of monoclonal microtubular or polyclonal fibrillar deposits. Both present clinically with nephrotic range proteinuria, hematuria and renal insufficiency leading to renal failure in many cases. ITG is more likely to manifest with underlying lymphoproliferative disease, hypocomplementemia, dysproteinemia, monoclonal gammopathy or occult cryoglobulinemia. Non-amyloid FGP is 10 times more frequent than ITG.	ORPHA:91137
HP:0004327	Abnormal vitreous humor morphology	biolink:PhenotypicFeature	mondo	UMLS:C4025356	hposlim_core	Abnormal vitreous humour morphology	http://purl.obolibrary.org/obo/HP_0004327	Any structural anomaly of the vitreous body.	
HP:0004326	Cachexia	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:238108007|SNOMEDCT_US:285384003|UMLS:C0006625|MSH:D002100		Wasting syndrome	http://purl.obolibrary.org/obo/HP_0004326	Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.	
MONDO:0019604	acquired monoclonal Ig light chain-associated Fanconi syndrome	biolink:Disease	mondo	UMLS:CN206457|SCTID:724099000|UMLS:C4510369|Orphanet:91136|ICD10:E72.0	ordo_disease	acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome|acquired Fanconi syndrome secondary to monoclonal gammopathy	http://purl.obolibrary.org/obo/MONDO_0019604	Fanconi syndrome (FS) is a generalized disorder of renal proximal tubule function. In adults over 50 years of age, FS is frequently related to the urinary secretion of a monoclonal immunoglobulin (Ig) light chain (LC), almost always of the kappa isotype.	SNOMEDCT:724099000|UMLS:CN206457|UMLS:C4510369|ORPHA:91136
HGNC:2689	DBH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2689		
MONDO:0032600	snijders blok-campeau syndrome	biolink:Disease	mondo	OMIM:618205		SNIJDERS BLOK-CAMPEAU SYNDROME; SNIBCPS|Intellectual Developmental Disorder With Macrocephaly, Speech Delay, and Dysmorphic Facies	http://purl.obolibrary.org/obo/MONDO_0032600		http://identifiers.org/omim/618205
MONDO:0019601	autosomal recessive axonal hereditary motor and sensory neuropathy	biolink:Disease	mondo	ICD10:G60.0|UMLS:CN206449|Orphanet:91024	ordo_group_of_disorders	autosomal recessive axonal Charcot-Marie-Tooth disease type 2|axonal hereditary motor and sensory neuropathy, autosomal recessive|AR-CMT2	http://purl.obolibrary.org/obo/MONDO_0019601	Autosomal recessive form of axonal hereditary motor and sensory neuropathy.	UMLS:CN206449|ORPHA:91024
UBERON:0004259	lower arm blood vessel	biolink:AnatomicalEntity	mondo			forelimb zeugopod blood vessel	http://purl.obolibrary.org/obo/UBERON_0004259	A blood vessel that is part of a lower arm [Automatically generated definition].	
MONDO:0019600	xeroderma pigmentosum	biolink:Disease	mondo	MESH:D014983|UMLS:C0043346|NCIT:C3452|Orphanet:910|DOID:0050427|ICD10:Q82.1|SCTID:44600005|MedDRA:10048220|GARD:0007910	ordo_disease|gard_rare	xeroderma of Kaposi|angioma pigmentosum atrophicum|xeroderma pigmentosum syndrome|XP|Kaposi disease|atrophoderma pigmentosum|xeroderma pigmentosa|pigmented epitheliomatosis|melanosis lenticularis progressiva|Kaposi dermatosis	http://purl.obolibrary.org/obo/MONDO_0019600	Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV).	NCIT:C3452|SNOMEDCT:44600005|MEDDRA:10048220|UMLS:C0043346|MESH:D014983|DOID:0050427|ORPHA:910
UBERON:0004257	upper leg blood vessel	biolink:AnatomicalEntity	mondo			thigh blood vessel|blood vessel of stylopod of hind limb|blood vessel of thigh|blood vessel of stylopod of hindlimb|hind limb stylopod blood vessel|hindlimb stylopod blood vessel|blood vessel of upper leg	http://purl.obolibrary.org/obo/UBERON_0004257	A blood vessel that is part of a hindlimb stylopod [Automatically generated definition].	
UBERON:0004258	back blood vessel	biolink:AnatomicalEntity	mondo			blood vessel of back	http://purl.obolibrary.org/obo/UBERON_0004258	A blood vessel that is part of a back [Automatically generated definition].	
UBERON:0004255	forelimb stylopod muscle	biolink:AnatomicalEntity	mondo			wing stylopod muscle|skeletal muscle of upper arm|muscle of upper arm|upper arm muscle|muscle of arm	http://purl.obolibrary.org/obo/UBERON_0004255	Any muscle organ that is part of a forelimb stylopod (upper arm)[Automatically generated definition].	
UBERON:0004256	hindlimb zeugopod muscle	biolink:AnatomicalEntity	mondo			calf muscle|lower leg muscle|muscle of leg	http://purl.obolibrary.org/obo/UBERON_0004256	Any muscle organ that is part of a hindlimb zeugopod (lower leg) [Automatically generated definition].	
HGNC:2682	DAZ1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2682		
MONDO:0007607	Birt-Hogg-Dube syndrome	biolink:Disease	mondo	OMIM:135150|DOID:0050676|NCIT:C28244|EFO:1001273|SCTID:110985001|MedDRA:10067736|MESH:D058249|GARD:0002322|Orphanet:122|ICD9:704.8|UMLS:C0346010	ordo_malformation_syndrome	BHD|BHD syndrome|fibrofolliculomas with trichodiscomas and acrochordons|Birt-Hogg-Dube syndrome; BHD|Birt-Hogg-Dubé syndrome|Hornstein-Knickenberg syndrome|Birt Hogg Dube syndrome|Birt-Hogg-Dube syndrome	http://purl.obolibrary.org/obo/MONDO_0007607	Birt-Hogg-Dube (BHD) syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. It is a rare clinicopathologic condition named after the three Canadian physicians who reported the syndrome in 1977.	ORPHA:122|DOID:0050676|http://identifiers.org/omim/135150|NCIT:C28244|MESH:D058249|UMLS:C0346010|SNOMEDCT:110985001|MEDDRA:10067736
MONDO:0032607	vertebral anomalies and variable endocrine and T-cell dysfunction	biolink:Disease	mondo	DOID:0070345|OMIM:618223		VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION; VETD	http://purl.obolibrary.org/obo/MONDO_0032607		http://identifiers.org/omim/618223|DOID:0070345
MONDO:0007608	desmoid tumor	biolink:Disease	mondo	DOID:0080366|UMLS:C1851124|UMLS:C0079218|ICDO:8821/1|GARD:0001820|UMLS:CN072436|Orphanet:873|ONCOTREE:DES|ICD10:D48.1|OMIM:135290|NCIT:C9182		desmoid-type fibromatosis|desmoid tumor caused by somatic mutation|FIF|deep fibromatosis|fibromatosis, familial infiltrative|deep fibromatosis/desmoid tumor|desmoid fibromatosis|desmoid/aggressive fibromatosis|desmoid type fibromatosis|desmoid disease, hereditary|desmoid tumor|desmoid disorder, hereditary|familial infiltrative fibromatosis|aggressive fibromatosis	http://purl.obolibrary.org/obo/MONDO_0007608	A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.	NCIT:C9182|DOID:0080366|UMLS:C0079218|UMLS:CN072436|http://identifiers.org/omim/135290|ORPHA:873|UMLS:C1851124
MONDO:0032608	mitochondrial complex 1 deficiency, nuclear type 3	biolink:Disease	mondo	OMIM:618224		MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3; MC1DN3	http://purl.obolibrary.org/obo/MONDO_0032608		http://identifiers.org/omim/618224
MONDO:0007605	fibrinolytic defect	biolink:Disease	mondo	UMLS:C1851184|OMIM:134900|MESH:C565017		fibrinolytic defect	http://purl.obolibrary.org/obo/MONDO_0007605		MESH:C565017|UMLS:C1851184|http://identifiers.org/omim/134900
MONDO:0032605	mental retardation, autosomal recessive 66	biolink:Disease	mondo	OMIM:618221		MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66; MRT66	http://purl.obolibrary.org/obo/MONDO_0032605		http://identifiers.org/omim/618221
MONDO:0032606	mitochondrial complex 1 deficiency, nuclear type 2	biolink:Disease	mondo	OMIM:618222		MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2; MC1DN2	http://purl.obolibrary.org/obo/MONDO_0032606		http://identifiers.org/omim/618222
MONDO:0007606	fibrodysplasia ossificans progressiva	biolink:Disease	mondo	UMLS:C0016037|ICD10:M61.10|ICD10:M61.1|OMIM:135100|MedDRA:10068715|ICD9:728.11|Orphanet:337|SCTID:82725007|GARD:0006445|NCIT:C3040|DOID:13374	ordo_disease	Stone man syndrome|progressive ossifying myositis|Stone Man syndrome|fibrodysplasia ossificans progressiva; fop|progressive myositis ossificans|fop|fibrodysplasia ossificans progressiva|fop|myositis ossificans progressiva	http://purl.obolibrary.org/obo/MONDO_0007606	Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.	ORPHA:337|http://identifiers.org/omim/135100|SNOMEDCT:82725007|DOID:13374|UMLS:C0016037|MEDDRA:10068715|NCIT:C3040|MESH:D009221
MONDO:0007603	Felty syndrome	biolink:Disease	mondo	ICD10:M05.0|ICD9:714.1|MESH:D005258|UMLS:C0015773|COHD:81097|OMIM:134750|SCTID:57160007|MedDRA:10016386|EFO:0007269|GARD:0008234|NCIT:C84712|DOID:11042|ICD10:M05.00|Orphanet:47612	ordo_disease|gard_rare	Felty syndrome|rheumatoid arthritis with splenoadenomegaly and leukopenia|splenomegaly-neutropenia-rheumatoid arthritis syndrome|familial Felty's syndrome|Felty's syndrome|rheumatoid arthritis, splenomegaly and neutropenia	http://purl.obolibrary.org/obo/MONDO_0007603	Felty syndrome (FS), also known as ''super rheumatoid'' disease, is a severe form of rheumatoid arthritis (RA), characterized by a triad of RA, splenomegaly and neutropenia, resulting in susceptibility to bacterial infections.	SNOMEDCT:57160007|MEDDRA:10016386|DOID:11042|MESH:D005258|http://identifiers.org/omim/134750|NCIT:C84712|ORPHA:47612|UMLS:C0015773
MONDO:0032603	polydactyly, postaxial, type A9	biolink:Disease	mondo	OMIM:618219		POLYDACTYLY, POSTAXIAL, TYPE A9; PAPA9	http://purl.obolibrary.org/obo/MONDO_0032603		http://identifiers.org/omim/618219
MONDO:0032604	retinitis pigmentosa 84	biolink:Disease	mondo	OMIM:618220		RETINITIS PIGMENTOSA 84; RP84	http://purl.obolibrary.org/obo/MONDO_0032604		http://identifiers.org/omim/618220
MONDO:0007604	femoral-facial syndrome	biolink:Disease	mondo	Orphanet:1988|SCTID:13280000|MESH:C537916|ICD9:759.89|GARD:0000061|ICD10:Q87.8|OMIM:134780	gard_rare|ordo_malformation_syndrome	femoral dysgenesis, bilateral|femoral hypoplasia-unusual facies syndrome|femoral-facial syndrome|FFS|FHUFS|femoral hypoplasia unusual facies syndrome|femoral-facial syndrome; FFS|femoral facial syndrome	http://purl.obolibrary.org/obo/MONDO_0007604	Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies.	MESH:C537916|ORPHA:1988|http://identifiers.org/omim/134780|SNOMEDCT:13280000|UMLS:C0265263
MONDO:0007601	familial Mediterranean fever, autosomal dominant	biolink:Disease	mondo	MESH:C565021|OMIM:134610|UMLS:C1851347		Fmf, autosomal dominant|familial Mediterranean fever, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0007601		http://identifiers.org/omim/134610|UMLS:C1851347|MESH:C565021
MONDO:0032601	inflammatory bowel disease, immunodeficiency, and encephalopathy	biolink:Disease	mondo	Orphanet:565788|OMIM:618213		INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE	http://purl.obolibrary.org/obo/MONDO_0032601		http://identifiers.org/omim/618213|ORPHA:565788
MONDO:0007602	obsolete favism, susceptibility to	biolink:Disease	mondo	OMIM:134700	predisposition	moved to {300908}|favism, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0007602		http://identifiers.org/omim/134700
NCBITaxon:1930602	Psocodea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1930602		
MONDO:0007600	primary Fanconi syndrome	biolink:Disease	mondo	ICD10:E72.0|GARD:0009118|NCIT:C123229|Orphanet:3337	gard_rare|ordo_disease	Fanconi renotubular syndrome 1|primary Fanconi renotubular syndrome|FRTS1	http://purl.obolibrary.org/obo/MONDO_0007600	Fanconi syndrome is a condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones.	NCIT:C123229|ORPHA:3337
MONDO:0032609	mitochondrial complex 1 deficiency, nuclear type 4	biolink:Disease	mondo	OMIM:618225		MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4; MC1DN4	http://purl.obolibrary.org/obo/MONDO_0032609		http://identifiers.org/omim/618225
NCBITaxon:29258		organism taxon	mondo				http://purl.obolibrary.org/obo/NCBITaxon_29258		
UBERON:0004242	bronchus smooth muscle	biolink:AnatomicalEntity	mondo			smooth muscle of bronchial trunk|bronchi smooth muscle|bronchial trunk smooth muscle|involuntary muscle of bronchi|non-striated muscle of bronchi|involuntary muscle of bronchial trunk|non-striated muscle of bronchial trunk|bronchus involuntary muscle|bronchial trunk involuntary muscle|non-striated muscle of bronchus|bronchi involuntary muscle|involuntary muscle of bronchus|bronchus smooth muscle tissue|smooth muscle of bronchus|bronchial trunk smooth muscle tissue|bronchial smooth muscle|smooth muscle tissue of bronchus|bronchi smooth muscle tissue|bronchi non-striated muscle|bronchial trunk non-striated muscle|smooth muscle tissue of bronchi|smooth muscle of bronchi|bronchus non-striated muscle|smooth muscle tissue of bronchial trunk	http://purl.obolibrary.org/obo/UBERON_0004242	A portion of smooth muscle tissue that is part of a bronchus [Automatically generated definition].	
UBERON:0004243	prostate gland smooth muscle	biolink:AnatomicalEntity	mondo			prostate smooth muscle|non-striated muscle of prostate gland|involuntary muscle of prostate gland|non-striated muscle of prostate|involuntary muscle of prostate|prostate involuntary muscle|muscular tissue of prostate|smooth muscle of prostate gland|substantia muscularis prostatae|smooth muscle tissue of prostate gland|smooth muscle of prostate|prostate gland involuntary muscle|smooth muscle tissue of prostate|prostate smooth muscle tissue|prostate gland non-striated muscle|prostate gland smooth muscle tissue|prostate non-striated muscle	http://purl.obolibrary.org/obo/UBERON_0004243	A portion of smooth muscle tissue that is part of a prostate gland [Automatically generated definition].	
UBERON:0004240	gall bladder smooth muscle	biolink:AnatomicalEntity	mondo			gall bladder non-striated muscle|gall bladder smooth muscle tissue|biliary smooth muscle|gallbladder non-striated muscle|smooth muscle tissue of gallbladder|smooth muscle of gallbladder|non-striated muscle of gall bladder|gallbladder smooth muscle|involuntary muscle of gall bladder|gallbladder involuntary muscle|involuntary muscle of gallbladder|smooth muscle of gall bladder|non-striated muscle of gallbladder|smooth muscle tissue of gall bladder|gallbladder smooth muscle tissue|gall bladder involuntary muscle	http://purl.obolibrary.org/obo/UBERON_0004240	A portion of smooth muscle tissue that is part of a gallbladder [Automatically generated definition].	
UBERON:0004241	main bronchus smooth muscle	biolink:AnatomicalEntity	mondo			bronchus principalis smooth muscle tissue|principal bronchus smooth muscle|primary bronchus non-striated muscle|smooth muscle of bronchus principalis|primary bronchus involuntary muscle|smooth muscle tissue of bronchus principalis|non-striated muscle of principal bronchus|involuntary muscle of principal bronchus|primary bronchus smooth muscle|principal bronchus involuntary muscle|primary bronchus smooth muscle tissue|bronchus principalis non-striated muscle|non-striated muscle of primary bronchus|smooth muscle of principal bronchus|main bronchus non-striated muscle|involuntary muscle of primary bronchus|smooth muscle tissue of principal bronchus|principal bronchus smooth muscle tissue|smooth muscle tissue of main bronchus|smooth muscle of main bronchus|main bronchus involuntary muscle|bronchus principalis smooth muscle|bronchus principalis involuntary muscle|smooth muscle of primary bronchus|principal bronchus non-striated muscle|smooth muscle tissue of primary bronchus|non-striated muscle of bronchus principalis|involuntary muscle of main bronchus|involuntary muscle of bronchus principalis|non-striated muscle of main bronchus|main bronchus smooth muscle tissue	http://purl.obolibrary.org/obo/UBERON_0004241	A portion of smooth muscle tissue that is part of a main bronchus [Automatically generated definition].	
MONDO:0032610	mitochondrial complex 1 deficiency, nuclear type 5	biolink:Disease	mondo	OMIM:618226		MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5; MC1DN5	http://purl.obolibrary.org/obo/MONDO_0032610		http://identifiers.org/omim/618226
MONDO:0032611	mitochondrial complex 1 deficiency, nuclear type 6	biolink:Disease	mondo	OMIM:618228		MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6; MC1DN6	http://purl.obolibrary.org/obo/MONDO_0032611		http://identifiers.org/omim/618228
HGNC:2699	DDX3Y	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2699		
UBERON:0004248	pedal digit bone	biolink:AnatomicalEntity	mondo			toe bone organ|foot digit bone organ|toe bone|digital bone of pes|foot digit bone|bone of digit of foot|digital bone of foot|digitus pedis bone organ|digit of foot bone|digitus pedis bone|foot digit bone|hind limb digit bone	http://purl.obolibrary.org/obo/UBERON_0004248	A bone that is part of a hindlimb digit. Typically phalanges but may include sesamoids.	
HGNC:2698	DBT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2698		
UBERON:0004249	manual digit bone	biolink:AnatomicalEntity	mondo			finger bone|hand digit bone|digital bone of hand|digital bone of manus|fore limb digit bone|hand digit bone	http://purl.obolibrary.org/obo/UBERON_0004249	A bone that is part of a forelimb digit. Typically phalanges but may include sesamoids.	
UBERON:0004246	outflow tract smooth muscle	biolink:AnatomicalEntity	mondo			outflow tract non-striated muscle|outflow tract involuntary muscle|smooth muscle tissue of outflow tract|smooth muscle of outflow tract|outflow tract smooth muscle tissue|involuntary muscle of outflow tract|non-striated muscle of outflow tract	http://purl.obolibrary.org/obo/UBERON_0004246	A portion of smooth muscle tissue that is part of a outflow tract [Automatically generated definition].	
UBERON:0004247	bone of dorsum	biolink:AnatomicalEntity	mondo			back bone|dorsal region bone|bone of back	http://purl.obolibrary.org/obo/UBERON_0004247	A bone that is part of the dorsal region of an animal.	
UBERON:0004245	oviduct smooth muscle	biolink:AnatomicalEntity	mondo			non-striated muscle of fallopian tube|involuntary muscle of fallopian tube|fallopian tube smooth muscle tissue|smooth muscle of fallopian tube|smooth muscle tissue of fallopian tube|fallopian tube non-striated muscle|fallopian tube smooth muscle|fallopian tube involuntary muscle	http://purl.obolibrary.org/obo/UBERON_0004245	A portion of smooth muscle tissue that is part of a fallopian tube [Automatically generated definition].	
MONDO:0032618	mitochondrial complex 1 deficiency, nuclear type 13	biolink:Disease	mondo	OMIM:618235		MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13; MC1DN13	http://purl.obolibrary.org/obo/MONDO_0032618		http://identifiers.org/omim/618235
MONDO:0007618	Eng-Strom syndrome	biolink:Disease	mondo	Orphanet:1937|ICD10:Q87.1|UMLS:C2931545|OMIM:135950	ordo_malformation_syndrome	short stature-locking fingers syndrome|finger locking, recurrent, with intrauterine growth retardation and proportionate short stature	http://purl.obolibrary.org/obo/MONDO_0007618	Eng-Strom syndrome is characterised by intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant.	ORPHA:1937|http://identifiers.org/omim/135950|UMLS:C2931545
MONDO:0007619	isolated congenital adermatoglyphia	biolink:Disease	mondo	OMIM:136000|Orphanet:289465|SCTID:763748007|MESH:C565010|ICD10:Q82.8|DOID:0111357|GARD:0012550	ordo_disease	adermatoglyphia; ADERM|adermatoglyphia|fingerprints, absence of|ADERM|absence of fingerprints|absence of fingerprints|ADG|ADG|immigration delay disease|isolated congenital adermatoglyphia|congenital absence of fingerprints	http://purl.obolibrary.org/obo/MONDO_0007619	Isolated congenital adermatoglyphia is a rare, genetic develomental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.	MESH:C565010|http://identifiers.org/omim/136000|DOID:0111357|ORPHA:289465|SNOMEDCT:763748007
MONDO:0032619	mitochondrial complex 1 deficiency, nuclear type 14	biolink:Disease	mondo	OMIM:618236		MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14; MC1DN14	http://purl.obolibrary.org/obo/MONDO_0032619		http://identifiers.org/omim/618236
MONDO:0007616	fibula, recurrent dislocation of head of	biolink:Disease	mondo	UMLS:C1851099|MESH:C565011|OMIM:135800		fibula, recurrent dislocation of head of	http://purl.obolibrary.org/obo/MONDO_0007616		http://identifiers.org/omim/135800|UMLS:C1851099|MESH:C565011
MONDO:0032616	mitochondrial complex 1 deficiency, nuclear type 10	biolink:Disease	mondo	OMIM:618233		MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10; MC1DN10	http://purl.obolibrary.org/obo/MONDO_0032616		http://identifiers.org/omim/618233
MONDO:0032617	mitochondrial complex 1 deficiency, nuclear type 11	biolink:Disease	mondo	OMIM:618234		MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11; MC1DN11	http://purl.obolibrary.org/obo/MONDO_0032617		http://identifiers.org/omim/618234
MONDO:0007617	Coffin-Siris syndrome 1	biolink:Disease	mondo	UMLS:CN029606|GARD:0009945|OMIM:609943|OMIM:614562|UMLS:C3281201|DOID:0070042|OMIM:135900|UMLS:C1864967|MESH:C538391	gard_rare	COFFIN-SIRIS syndrome 1; CSS1|MRD12|hypertrichosis, hyperkeratosis, intellectual disability, and distinctive facial features|hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features|fifth digit syndrome|mental retardation, autosomal dominant type 12|intellectual disability, autosomal dominant 12|CSS1|autosomal dominant mental retardation 12|COFFIN-SIRIS syndrome; CSS|mental retardation, autosomal dominant 12; MRD12|CSS|mental retardation, autosomal dominant 12|COFFIN-SIRIS syndrome	http://purl.obolibrary.org/obo/MONDO_0007617		UMLS:C3281201|http://identifiers.org/omim/135900|DOID:0070042|http://identifiers.org/omim/614562|UMLS:C1864967|MESH:C538391|UMLS:CN029606|http://identifiers.org/omim/609943
MONDO:0007614	congenital fibrosis of extraocular muscles	biolink:Disease	mondo	DOID:0080143|SCTID:400946004|ICD10:H49.8|GARD:0012590|UMLS:CN043677|OMIMPS:135700|ICD9:728.2|UMLS:C1302995|Orphanet:45358	ordo_disease|prototype_pattern	CFEOM1|fibrosis of extraocular muscles, congenital, 1|FEOM|fibrosis of extraocular muscles, congenital, 1; CFEOM1|ophthalmoplegia, congenital|blepharoptosis with absent eye movements|fibrosis of extraocular muscles, congenital|fibrosis of extraocular muscles, congenital, type 1|Feom1 locus|Tukel syndrome|congenital fibrosis of the extraocular muscles|fibrosis of extraocular muscles, congenital, 3B	http://purl.obolibrary.org/obo/MONDO_0007614		UMLS:C1302995|UMLS:CN043677|ORPHA:45358|DOID:0080143|SNOMEDCT:400946004
MONDO:0032614	epidermodysplasia verruciformis, susceptibility to, 2	biolink:Disease	mondo	OMIM:618231		EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2; EV2	http://purl.obolibrary.org/obo/MONDO_0032614		http://identifiers.org/omim/618231
MONDO:0007615	laurin-Sandrow syndrome	biolink:Disease	mondo	GARD:0000155|SCTID:715440003|Orphanet:2378|ICD10:Q87.2|OMIM:135750|MESH:C535689|DOID:0111350	ordo_malformation_syndrome|gard_rare	mirror hands and feets-nasal defects syndrome|laurin-Sandrow syndrome, segmental|mirror-Image polydactyly|laurin Sandrow syndrome|laurin-Sandrow syndrome; LSS|Sandrow syndrome|fibula ulna duplication tibia radius absence|laurin-Sandrow syndrome|mirror hands and feet with nasal defects|LSS|tetramelic mirror-Image polydactyly|fibula and ulna, Duplication of, with absence of tibia and radius	http://purl.obolibrary.org/obo/MONDO_0007615	Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.	SNOMEDCT:715440003|DOID:0111350|MESH:C535689|http://identifiers.org/omim/135750|UMLS:C1851100|ORPHA:2378
MONDO:0032615	mitochondrial complex 1 deficiency, nuclear type 9	biolink:Disease	mondo	OMIM:618232		MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9; MC1DN9	http://purl.obolibrary.org/obo/MONDO_0032615		http://identifiers.org/omim/618232
MONDO:0007612	gingival fibromatosis-progressive deafness syndrome	biolink:Disease	mondo	Orphanet:2027|UMLS:C1851112|GARD:0003056|ICD10:H90.3|OMIM:135550|SCTID:722449007|MESH:C535886	ordo_malformation_syndrome	GFD|gingival fibromatosis with progressive deafness|fibromatosis, gingival, with progressive deafness|Jones syndrome|gingival fibromatosis with sensorineural hearing loss|familial gingival fibromatosis associated with progressive deafness	http://purl.obolibrary.org/obo/MONDO_0007612	Gingival fibromatosis-progressive deafness syndrome is characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait.	http://identifiers.org/omim/135550|MESH:C535886|UMLS:C1851112|ORPHA:2027|SNOMEDCT:722449007
MONDO:0032612	mitochondrial complex 1 deficiency, nuclear type 7	biolink:Disease	mondo	OMIM:618229		MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7; MC1DN7	http://purl.obolibrary.org/obo/MONDO_0032612		http://identifiers.org/omim/618229
MONDO:0032613	mitochondrial complex 1 deficiency, nuclear type 8	biolink:Disease	mondo	OMIM:618230		MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8; MC1DN8	http://purl.obolibrary.org/obo/MONDO_0032613		http://identifiers.org/omim/618230
MONDO:0007613	obsolete fibromuscular dysplasia of arteries	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0007613		
MONDO:0007610	gingival fibromatosis-hypertrichosis syndrome	biolink:Disease	mondo	ICD10:L68.8|OMIM:135400|Orphanet:2026|SCTID:716008002|MESH:C565016|GARD:0002324	ordo_malformation_syndrome|gard_rare	congenital generalized hypertrichosis terminalis|hereditary gingival fibromatosis with hypertrichosis|hypertrichosis, congenital generalized, with or without gingival hyperplasia; HTC3|chromosome 17Q24.2-q24.3 deletion syndrome|hypertrichosis with or without gingival hyperplasia|hypertrichosis terminalis, generalized, with or without gingival hyperplasia|hirsutism-congenital gingival hyperplasia syndrome|microdeletion 17Q24.2-q24.3 syndrome|HTC3|hypertrichosis, congenital generalized, with or without gingival hyperplasia|hypertrichosis terminalis, generalized, with gingival hyperplasia|fibromatosis, gingival, with hypertrichosis|chromosome 17Q24.2-q24.3 Duplication syndrome|gingival fibromatosis with hypertrichosis|extreme hirsutism with gingival fibromatosis|microduplication 17Q24.2-q24.3 syndrome|CGHT	http://purl.obolibrary.org/obo/MONDO_0007610	Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.	SNOMEDCT:716008002|ORPHA:2026|MESH:C565016|http://identifiers.org/omim/135400
MONDO:0007611	obsolete Zimmermann-Laband syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0007611		
HP:0004308	Ventricular arrhythmia	biolink:PhenotypicFeature	mondo	UMLS:C0085612|SNOMEDCT_US:44103008		Ventricular arrhythmias	http://purl.obolibrary.org/obo/HP_0004308		
UBERON:0004231	anal region smooth muscle	biolink:AnatomicalEntity	mondo			anal region involuntary muscle|anal triangle non-striated muscle|anal part of perineum involuntary muscle|anal region smooth muscle tissue|anal part of perineum non-striated muscle|anal triangle involuntary muscle|smooth muscle tissue of anal triangle|smooth muscle of anal triangle|smooth muscle tissue of anal part of perineum|smooth muscle of anal part of perineum|anal triangle smooth muscle|anal region non-striated muscle|anal part of perineum smooth muscle tissue|anal triangle smooth muscle tissue|anal part of perineum smooth muscle|smooth muscle tissue of anal region|involuntary muscle of anal triangle|non-striated muscle of anal triangle|smooth muscle of anal region|involuntary muscle of anal part of perineum|non-striated muscle of anal part of perineum|involuntary muscle of anal region|non-striated muscle of anal region	http://purl.obolibrary.org/obo/UBERON_0004231	A portion of smooth muscle tissue that is part of an anal region [Automatically generated definition].	
HP:0004303	Abnormal muscle fiber morphology	biolink:PhenotypicFeature	mondo	UMLS:C4021663		Abnormal muscle fibre morphology|Abnormal skeletal muscle fiber morphology|Abnormality of muscle fibers	http://purl.obolibrary.org/obo/HP_0004303	Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers.	
UBERON:0004232	lymphatic vessel smooth muscle	biolink:AnatomicalEntity	mondo			smooth muscle of lymph vessel|smooth muscle tissue of lymph vessel|lymphatic vessel non-striated muscle|lymph vessel involuntary muscle|lymph vessel non-striated muscle|lymphatic vessel involuntary muscle|lymph vessel smooth muscle tissue|lymph vessel smooth muscle|lymphatic vessel smooth muscle tissue|non-striated muscle of lymphatic vessel|involuntary muscle of lymphatic vessel|non-striated muscle of lymph vessel|involuntary muscle of lymph vessel|smooth muscle of lymphatic vessel|smooth muscle tissue of lymphatic vessel	http://purl.obolibrary.org/obo/UBERON_0004232	A portion of smooth muscle tissue that is part of a lymphatic vessel [Automatically generated definition].	
UBERON:0004230	urinary bladder neck smooth muscle	biolink:AnatomicalEntity	mondo			vesical neck smooth muscle|neck of urinary bladder non-striated muscle|bladder neck smooth muscle tissue|smooth muscle of bladder neck|smooth muscle tissue of neck of urinary bladder|smooth muscle tissue of bladder neck|neck of bladder smooth muscle tissue|non-striated muscle of vesical neck|smooth muscle of neck of urinary bladder|trigonal muscle of urinary bladder|non-striated muscle of urinary bladder neck|involuntary muscle of vesical neck|neck of urinary bladder smooth muscle|involuntary muscle of urinary bladder neck|neck of urinary bladder involuntary muscle|involuntary muscle of neck of urinary bladder|neck of bladder non-striated muscle|non-striated muscle of neck of urinary bladder|smooth muscle of vesical neck|bladder neck non-striated muscle|smooth muscle tissue of neck of bladder|urinary bladder neck involuntary muscle|smooth muscle of urinary bladder neck|smooth muscle tissue of vesical neck|neck of urinary bladder smooth muscle tissue|vesical neck involuntary muscle|smooth muscle of neck of bladder|smooth muscle tissue of urinary bladder neck|neck of bladder smooth muscle|bladder neck smooth muscle|vesical neck non-striated muscle|involuntary muscle of neck of bladder|urinary bladder neck smooth muscle tissue|non-striated muscle of neck of bladder|vesical neck smooth muscle tissue|urinary bladder neck muscle|urinary bladder neck non-striated muscle|bladder neck involuntary muscle|non-striated muscle of bladder neck|trigonal muscle|neck of bladder involuntary muscle|involuntary muscle of bladder neck	http://purl.obolibrary.org/obo/UBERON_0004230	A portion of smooth muscle tissue that is part of a neck of urinary bladder [Automatically generated definition].	
HP:0004307	Abnormal anatomic location of the heart	biolink:PhenotypicFeature	mondo	UMLS:C4025359			http://purl.obolibrary.org/obo/HP_0004307	Thickening of the left ventricle wall with congenital onset.	
HP:0004306	Abnormal endocardium morphology	biolink:PhenotypicFeature	mondo	UMLS:C4021662		Abnormality of the endocardium|Abnormality of the endomycoardium	http://purl.obolibrary.org/obo/HP_0004306	An abnormality of the endocardium.	
HP:0004305	Involuntary movements	biolink:PhenotypicFeature	mondo	UMLS:C0235086|SNOMEDCT_US:102542000		Involuntary muscle contractions|Involuntary movements	http://purl.obolibrary.org/obo/HP_0004305	Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.	
UBERON:0004239	small intestine smooth muscle	biolink:AnatomicalEntity	mondo			smooth muscle tissue of small bowel|smooth muscle of small bowel|small bowel smooth muscle|small bowel smooth muscle tissue|involuntary muscle of small bowel|non-striated muscle of small bowel|small intestine non-striated muscle|small intestine involuntary muscle|smooth muscle tissue of small intestine|smooth muscle of small intestine|small intestine smooth muscle tissue|involuntary muscle of small intestine|non-striated muscle of small intestine|small bowel non-striated muscle|small bowel involuntary muscle	http://purl.obolibrary.org/obo/UBERON_0004239	A portion of smooth muscle tissue that is part of a small intestine [Automatically generated definition].	
MONDO:0032621	mitochondrial complex 1 deficiency, nuclear type 16	biolink:Disease	mondo	OMIM:618238		MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16; MC1DN16	http://purl.obolibrary.org/obo/MONDO_0032621		http://identifiers.org/omim/618238
MONDO:0032622	mitochondrial complex 1 deficiency, nuclear type 17	biolink:Disease	mondo	OMIM:618239		MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17; MC1DN17	http://purl.obolibrary.org/obo/MONDO_0032622		http://identifiers.org/omim/618239
UBERON:0004237	blood vessel smooth muscle	biolink:AnatomicalEntity	mondo			non-striated muscle of blood vessel|involuntary muscle of blood vessel|blood vessel involuntary muscle|smooth muscle of blood vessel|smooth muscle tissue of blood vessel|vascular smooth muscle|blood vessel smooth muscle tissue|blood vessel non-striated muscle|vascular smooth muscle tissue	http://purl.obolibrary.org/obo/UBERON_0004237	smooth muscle found within, and composing the majority of the wall of blood vessels.	
MONDO:0032620	mitochondrial complex 1 deficiency, nuclear type 15	biolink:Disease	mondo	OMIM:618237		MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15; MC1DN15	http://purl.obolibrary.org/obo/MONDO_0032620		http://identifiers.org/omim/618237
UBERON:0004238	spleen smooth muscle	biolink:AnatomicalEntity	mondo			smooth muscle of spleen|smooth muscle tissue of spleen|spleen involuntary muscle|spleen non-striated muscle|spleen smooth muscle tissue|non-striated muscle of spleen|involuntary muscle of spleen	http://purl.obolibrary.org/obo/UBERON_0004238	A portion of smooth muscle tissue that is part of a spleen [Automatically generated definition].	
UBERON:0004235	mammary gland smooth muscle	biolink:AnatomicalEntity	mondo			smooth muscle tissue of mammary gland	http://purl.obolibrary.org/obo/UBERON_0004235	A portion of smooth muscle tissue that is part of a mammary gland [Automatically generated definition].	
UBERON:0004236	arteriole smooth muscle	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004236	A portion of smooth muscle tissue that is part of an arteriole [Automatically generated definition].	
MONDO:0007609	fibromatosis, gingival, 1	biolink:Disease	mondo	OMIM:135300|UMLS:CN030594|GARD:0006509	gard_rare	gingival fibromatosis caused by mutation in SOS1|fibromatosis gingival, hereditary, 1|gingival fibromatosis, 1|GINGF1|SOS1 hereditary gingival fibromatosis|fibromatosis, gingival, hereditary|hereditary gingival fibromatosis caused by mutation in SOS1|SOS1 gingival fibromatosis|hereditary gingival fibromatosis, 1|fibromatosis, gingival, 1|HGF1|GGF1|GINGF|fibromatosis, gingival, type 1|fibromatosis, gingival, 1; GINGF1	http://purl.obolibrary.org/obo/MONDO_0007609	Any gingival fibromatosis in which the cause of the disease is a mutation in the SOS1 gene.	UMLS:CN030594|http://identifiers.org/omim/135300
UBERON:0004233	lower respiratory tract smooth muscle	biolink:AnatomicalEntity	mondo			lower respiratory tract involuntary muscle|lower respiratory tract non-striated muscle|smooth muscle tissue of lower respiratory tract|smooth muscle of lower respiratory tract|lower respiratory tract smooth muscle tissue|involuntary muscle of lower respiratory tract|non-striated muscle of lower respiratory tract	http://purl.obolibrary.org/obo/UBERON_0004233	A portion of smooth muscle tissue that is part of a lower respiratory tract [Automatically generated definition].	
UBERON:0004234	iris smooth muscle	biolink:AnatomicalEntity	mondo			iris non-striated muscle|iridial smooth muscle|non-striated muscle of iris|iris involuntary muscle|involuntary muscle of iris|iris smooth muscle tissue|smooth muscle of iris|smooth muscle tissue of iris	http://purl.obolibrary.org/obo/UBERON_0004234	A portion of smooth muscle tissue that is part of a iris [Automatically generated definition].	
MONDO:0005009	congestive heart failure	biolink:Disease	mondo	ICD9:428.9|ICD10:I50|NCIT:C3080|SCTID:42343007|ICD9:428|ICD10:I50.9|UMLS:C0018802|ICD9:428.0|ICD10:I50.0|ICD9:404.13|EFO:0000373|ICD9:404.01|ICD9:404.11|COHD:319835|DOID:6000		weak heart|failure, congestive heart|heart failure, congestive|congestive heart disease|CHF|cardiac failure, congestive	http://purl.obolibrary.org/obo/MONDO_0005009	Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales.	UMLS:C0018802|NCIT:C3080|DOID:6000|SNOMEDCT:42343007
MONDO:0005006	clear cell sarcoma of kidney	biolink:Disease	mondo	NCIT:C4264|ICD10:C64|ICDO:8964/3|UMLS:C0334488|ONCOTREE:CCSK|UMLS:CN242113|EFO:0000350|DOID:4880|Orphanet:457246	ordo_disease	childhood renal clear cell sarcoma|clear cell sarcoma of kidney|CCSK|clear cell sarcoma - kidney|childhood clear cell sarcoma of the kidney|kidney clear cell sarcoma|pediatric renal clear cell sarcoma|childhood kidney clear cell sarcoma|clear cell sarcoma of the kidney|renal clear cell sarcoma|pediatric kidney clear cell sarcoma	http://purl.obolibrary.org/obo/MONDO_0005006	A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. It is associated with internal tandem duplications in the BCOR gene. It metastasizes to lung, bone, brain and soft tissue.	UMLS:C0334488|UMLS:CN242113|DOID:4880|ORPHA:457246|NCIT:C4264
MONDO:0007669	renal cysts and diabetes syndrome	biolink:Disease	mondo	DOID:0111101|SCTID:446641003|UMLS:C0431693|Orphanet:93111|OMIM:137920|MESH:C535520|GARD:0010221|UMLS:CN206512|ICD10:E11.2|NCIT:C123018	ordo_disease|gard_rare	RCAD|congenital anomalies of the kidney and urinary tract with diabetes|renal dysfunction-early-onset diabetes syndrome|HNF1B-related renal cysts and diabetes syndrome|hyperuricemic nephropathy, familial juvenile, atypical|renal cysts and diabetes syndrome; RCAD|HNF1B-MODY|MODY type 5|FJHN, atypical|hepatocyte nuclear Factor 1-beta-associated monogenic diabetes|atypical FJHN|atypical familial juvenile hyperuricemic nephropathy|glomerulocystic kidney disease, hypoplastic type|renal cysts-maturity-onset diabetes of the young syndrome|FJHN atypical|CAKUT with diabetes|MODY5|maturity-onset diabetes of the young type 5|RCAD syndrome|maturity-onset diabetes of the Young, type 5|hypoplastic type glomerulocystic kidney disease|renal cysts and diabetes syndrome|glomerulocystic kidney, familial hypoplastic|familial hypoplastic glomerulocystic kidney|maturity onset diabetes of the Young, type 5	http://purl.obolibrary.org/obo/MONDO_0007669	Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome.	SNOMEDCT:446641003|DOID:0111101|http://identifiers.org/omim/137920|UMLS:C2959918|MESH:C535520|UMLS:CN206512|UMLS:C0431693|ORPHA:93111|NCIT:C123018
MONDO:0005005	clear cell renal carcinoma	biolink:Disease	mondo	EFO:0000349|GARD:0009574|ICD9:189.0|SCTID:254915003|NCIT:C4033|DOID:4467|ONCOTREE:CCRCC		kidney clear cell adenocarcinoma|clear cell carcinoma of kidney|clear cell renal cell cancer|clear cell carcinoma of the kidney|renal cell carcinoma, clear cell adenocarcinoma|kidney clear cell carcinoma|clear-cell metastatic renal cell carcinoma|clear cell adenocarcinoma, kidney|clear cell kidney carcinoma|clear cell renal cell carcinoma|conventional (clear cell) renal cell carcinoma|Grawitz tumor|hypernephroma|RCC, clear cell adenocarcinoma|conventional (clear cell) renal cell adenocarcinoma|renal clear cell carcinoma|conventional renal cell carcinoma|renal clear cell adenocarcinoma|clear cell adenocarcinoma of kidney|clear cell adenocarcinoma of the kidney	http://purl.obolibrary.org/obo/MONDO_0005005	A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common.	SNOMEDCT:254915003|DOID:4467|NCIT:C4033
MONDO:0007667	subependymoma	biolink:Disease	mondo	ICDO:9383/1|DOID:4843|ICD10:D43.2|MESH:D018315|EFO:1000553|ONCOTREE:SUBE|EFO:1001197|UMLS:C0206725|GARD:0010070|Orphanet:251639|NCIT:C3795	prototype_pattern|ordo_histopathological_subtype	subependymal astrocytoma NOS|WHO grade I ependymal tumor|WHO grade I ependymal neoplasm|subependymal astrocytoma|subependymal astrocytoma (formerly)|SUBEPENDYMOMA, benign|subependymoma|mixed subependymoma-ependymoma|subependymal glioma	http://purl.obolibrary.org/obo/MONDO_0007667	Subependymoma is a rare and slow growing type of ependymoma, often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma.	NCIT:C3795|DOID:4843|UMLS:C0206725|MESH:D018315|ORPHA:251639
MONDO:0005008	colorectal adenocarcinoma	biolink:Disease	mondo	DOID:0050913|SCTID:408645001|UMLS:C1319315|DOID:0050861|ONCOTREE:COADREAD|EFO:0000365|NCIT:C5105		adenocarcinoma of the large intestine|large bowel adenocarcinoma|adenocarcinoma of large intestine|colorectal adenocarcinoma|colorectum adenocarcinoma|adenocarcinoma of the large bowel|large intestine adenocarcinoma|colorectal (colon or rectal) adenocarcinoma|adenocarcinoma of large bowel	http://purl.obolibrary.org/obo/MONDO_0005008	The most common type of colorectal carcinoma. It is characterized by the presence of malignant glandular epithelial cells invading through the muscularis mucosa into the submucosa. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.	DOID:0050861|DOID:0050913|NCIT:C5105|UMLS:C1319315|SNOMEDCT:408645001
MONDO:0005007	colon mucinous adenocarcinoma	biolink:Disease	mondo	DOID:3029|EFO:0000364|UMLS:C0279639|NCIT:C7966		mucinous colon adenocarcinoma|colloid colon adenocarcinoma|colon colloid adenocarcinoma|colonic colloidal adenocarcinoma|colonic mucinous adenocarcinoma|colloid adenocarcinoma of the colon|mucinous adenocarcinoma of the colon|colloid adenocarcinoma of colon|mucinous adenocarcinoma of colon|colonic colloid adenocarcinoma|colon mucinous adenocarcinoma|colloidal adenocarcinoma of the colon|colloidal colon adenocarcinoma|colon colloidal adenocarcinoma|colloidal adenocarcinoma of colon	http://purl.obolibrary.org/obo/MONDO_0005007	An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion.	UMLS:C0279639|DOID:3029|NCIT:C7966
MONDO:0007668	globulin anomaly involving beta (2A)-globulin	biolink:Disease	mondo	UMLS:C1842009|MESH:C564229|OMIM:137900		globulin anomaly involving beta (2A)-globulin	http://purl.obolibrary.org/obo/MONDO_0007668		UMLS:C1842009|http://identifiers.org/omim/137900|MESH:C564229
MONDO:0005002	chronic obstructive pulmonary disease	biolink:Disease	mondo	SCTID:13645005|ICD9:496|NCIT:C3199|MESH:D029424|COHD:255573|EFO:0000341|DOID:3083|ICD10:J44.9|ICD9:490-496.99		chronic obstructive pulmonary disease, (COPD)|COPD|chronic obstructive airway disease|cold|chronic obstructive lung disease|cold (chronic obstructive lung disease)|COPD, chronic obstructive pulmonary disease|chronic obstructive airways disease|pulmonary disease (COPD), chronic obstructive|obstructive pulmonary disease (COPD), chronic|obstructive lung disease, chronic|disease (COPD), chronic obstructive|chronic obstructive pulmonary disease (COPD)	http://purl.obolibrary.org/obo/MONDO_0005002	A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema.	DOID:3083|SNOMEDCT:13645005|MESH:D029424|NCIT:C3199
MONDO:0020643	autism susceptibility 1	biolink:Disease	mondo	OMIM:209850	predisposition	AUTS1	http://purl.obolibrary.org/obo/MONDO_0020643		http://identifiers.org/omim/209850
MONDO:0007665	primary open angle glaucoma	biolink:Disease	mondo	SCTID:77075001|COHD:435262|ICD10:H40.11|ICD9:365.11|ICD10:H40.1|MESH:C562750|OMIM:137760|NCIT:C35394|DOID:1070		chronic simple glaucoma|glaucoma 1, open angle, E|glaucoma, primary open angle, adult-onset|glaucoma, primary open angle; POAG|glaucoma, primary open angle|POAG	http://purl.obolibrary.org/obo/MONDO_0007665	A form of glaucoma in which there is no visible abnormality in the trabecular meshwork.	NCIT:C35394|SNOMEDCT:77075001|http://identifiers.org/omim/137760|DOID:1070|MESH:C562750
MONDO:0005001	chronic gastritis (disease)	biolink:Disease	mondo	ICD9:535.40|EFO:0000337|HP:0005231|UMLS:C0085695|SCTID:8493009|ICD9:535.4|NCIT:C26929|ICD9:535.41		chronic gastritis|gastritis (disease), chronic	http://purl.obolibrary.org/obo/MONDO_0005001	Inflammation of the stomach that is chronic in nature.	UMLS:C0085695|SNOMEDCT:8493009|NCIT:C26929
MONDO:0020642	polycystic kidney disease	biolink:Disease	mondo	OMIMPS:173900|SCTID:82525005|NCIT:C75464|DOID:0080322		PKD - polycystic kidney disease|fibrocystic renal disease|polycystic kidney disease	http://purl.obolibrary.org/obo/MONDO_0020642	A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis.	SNOMEDCT:82525005|DOID:0080322|NCIT:C75464
MONDO:0007666	glaucoma-sleep apnea syndrome	biolink:Disease	mondo	OMIM:137763|MESH:C564232|UMLS:C1842025|Orphanet:2085|GARD:0002483	gard_rare|ordo_disease	glaucoma sleep apnea|glaucoma and sleep apnea	http://purl.obolibrary.org/obo/MONDO_0007666	Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children).	ORPHA:2085|http://identifiers.org/omim/137763|UMLS:C1842025|MESH:C564232
MONDO:0005004	clear cell adenocarcinoma	biolink:Disease	mondo	EFO:0000348|MESH:D018262|NCIT:C3766|UMLS:C0206681|DOID:4468|ICDO:8310/3		clear cell adenocarcinoma (morphologic abnormality)|Mesonephroma, malignant (morphologic abnormality)|Mesonephroid clear cell adenocarcinoma|Mesonephroma NOS (morphologic abnormality)|malignant Mesonephroma|water-clear cell carcinoma|Wolffian duct neoplasm|Mesonephroma, malignant|water-clear cell adenocarcinoma (morphologic abnormality)|Mesonephroid clear cell carcinoma|clear cell adenocarcinoma|water-clear cell adenocarcinoma|adenocarcinoma, clear cell, malignant|clear cell carcinoma|mesonephroma|clear cell adenocarcinoma NOS (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0005004	A malignant neoplasm composed of glandular epithelial clear cells. Various architectural patterns may be seen, including papillary, tubulocystic, and solid.	NCIT:C3766|NCIT:C36815|DOID:4468|UMLS:C0206681|MESH:D018262
MONDO:0007663	glaucoma with elevated episcleral venous pressure	biolink:Disease	mondo	OMIM:137700|MESH:C564235|UMLS:C1842030		glaucoma with elevated episcleral venous pressure	http://purl.obolibrary.org/obo/MONDO_0007663		UMLS:C1842030|http://identifiers.org/omim/137700|MESH:C564235
MONDO:0020641	respiratory tract neoplasm	biolink:Disease	mondo	NCIT:C3355|EFO:0003853|SCTID:126667002|MESH:D012142		respiratory system neoplasm|neoplasms, respiratory tract|neoplasm of the respiratory tract|tumor of respiratory tract|tract neoplasms, respiratory|respiratory tract neoplasm|tumor of the respiratory tract|tract neoplasm, respiratory|neoplasm, respiratory tract|neoplasm of respiratory tract|respiratory tract tumor	http://purl.obolibrary.org/obo/MONDO_0020641	A benign or malignant, primary or metastatic neoplasm involving the respiratory tract.	SNOMEDCT:126667002|NCIT:C3355|MESH:D012142
MONDO:0007664	glaucoma 1, open angle, A	biolink:Disease	mondo	GARD:0009485|MESH:C564234|OMIM:137750|UMLS:C1842028		GLC1A|glaucoma, primary open angle, juvenile-onset, 1|glaucoma hereditary, juvenile|glaucoma 1, open angle, 50|glaucoma 1, open angle, A; GLC1A|JOAG1|juvenile open angle glaucoma caused by mutation in MYOC|juvenile glaucoma caused by mutation in MYOC|JOAG1A|MYOC juvenile glaucoma|MYOC juvenile open angle glaucoma|glaucoma 1, open angle, type A|glaucoma 1, open angle, A|primary open angle glaucoma juvenile onset 1	http://purl.obolibrary.org/obo/MONDO_0007664	Any juvenile glaucoma in which the cause of the disease is a mutation in the MYOC gene.	http://identifiers.org/omim/137750|UMLS:C1842028|MESH:C564234
MONDO:0005003	chronic pancreatitis	biolink:Disease	mondo	NCIT:C84637|COHD:195596|MESH:D050500|EFO:0000342|SCTID:235494005|ICD9:577.1|UMLS:C0149521		pancreatitis, chronic	http://purl.obolibrary.org/obo/MONDO_0005003	A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs and symptoms include abdominal pain, malabsorption and diabetes mellitus.	SNOMEDCT:235494005|MESH:D050500|NCIT:C84637|UMLS:C0149521
MONDO:0020640	autoimmune encephalitis	biolink:Disease	mondo	NCIT:C122414|GARD:0011979|SCTID:95643007	gard_rare	autoimmune encephalitis	http://purl.obolibrary.org/obo/MONDO_0020640	Inflammation of the brain secondary to an immune response triggered by the body itself.	NCIT:C122414|SNOMEDCT:95643007
MONDO:0007661	Tourette syndrome	biolink:Disease	mondo	EFO:0004895|ICD10:F95.2|OMIM:137580|DOID:11119|ICD9:307.23|MESH:D005879|SCTID:5158005|GARD:0007783|NCIT:C35078		Gilles DE LA TOURETTE syndrome; GTS|Gilles De 50A Tourette syndrome|psychogenic tics|Tourette syndrome|Tourette's syndrome|GTS|Guinon's disease|chronic motor tics|Tourette disorder|Gilles DE LA TOURETTE syndrome|motor-verbal tic disorder	http://purl.obolibrary.org/obo/MONDO_0007661	A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen.	http://identifiers.org/omim/137580|SNOMEDCT:5158005|DOID:11119|MESH:D005879|NCIT:C35078
MONDO:0007662	anterior segment dysgenesis 4	biolink:Disease	mondo	OMIM:137600|DOID:0080609|GARD:0003026|UMLS:C1842031		iridogoniodysgenesis syndrome|ASGD4|PITX2 iridogoniodysgenesis|anterior segment dysgenesis 4; ASGD4|iridogoniodysgenesis, type 2|iridogoniodysgenesis type 2|iridogoniodysgenesis caused by mutation in PITX2|iris hypoplasia with early-onset glaucoma, autosomal dominant|iridogoniodysgenesis, type 2; IRID2|IRID2	http://purl.obolibrary.org/obo/MONDO_0007662	Any iridogoniodysgenesis in which the cause of the disease is a mutation in the PITX2 gene.	DOID:0080609|UMLS:C1842031|http://identifiers.org/omim/137600
MONDO:0005000	obsolete chromophobe renal cell carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005000		
MONDO:0007660	familial ossifying fibroma	biolink:Disease	mondo	Orphanet:435329|GARD:0010887|ICD10:D16.4|UMLS:CN237560|OMIM:137575|MESH:C563017	ordo_disease	hereditary ossifying fibroma (disease)|intracortical fibrous dysplasia|multiple ossifying fibroma|Jaffe-Campanacci syndrome|cemental dysplasia, periapical|GIGANTIFORM cementoma, familial|Cementomas, familial multiple	http://purl.obolibrary.org/obo/MONDO_0007660	An instance of ossifying fibroma (disease) that is caused by an inherited modification of the individual's genome.	http://identifiers.org/omim/137575|UMLS:CN237560|ORPHA:435329|MESH:C563017
HP:0004357	Abnormal circulating leucine concentration	biolink:PhenotypicFeature	mondo	UMLS:C4025341			http://purl.obolibrary.org/obo/HP_0004357	Any deviation from the normal circulation of leucine in the blood circulation.	
MONDO:0020639	monosomy	biolink:Disease	mondo	MESH:D009006|NCIT:C3239		monosomy	http://purl.obolibrary.org/obo/MONDO_0020639	A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number.	MESH:D009006|NCIT:C3239
MONDO:0020638	superficial spreading melanoma	biolink:Disease	mondo	SCTID:254730000|ICDO:8743/3|NCIT:C9152		cutaneous superficial spreading melanoma|pagetoid melanoma|superficial spreading malignant melanoma of skin|superficial spreading melanoma of skin|superficial spreading malignant melanoma of the skin|superficial spreading melanoma of the skin|superficial spreading melanoma|superficial spreading cutaneous (skin) melanoma|superficial spreading malignant skin melanoma|SSM	http://purl.obolibrary.org/obo/MONDO_0020638	A type of melanoma that typically occurs in light-skinned individuals ranging in age from young adults to the elderly. Risk factors include extensive sun exposure during childhood, a family history of melanoma, and the presence of dysplastic nevi.	NCIT:C9152|SNOMEDCT:254730000
MONDO:0020637	mendelian susceptibility to mycobacterial diseases due to a partial deficiency	biolink:Disease	mondo		predisposition		http://purl.obolibrary.org/obo/MONDO_0020637		
MONDO:0020636	mendelian susceptibility to mycobacterial diseases due to a complete deficiency	biolink:Disease	mondo		predisposition		http://purl.obolibrary.org/obo/MONDO_0020636		
MONDO:0019658	obsolete sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation	biolink:Disease	mondo	Orphanet:93222|UMLS:CN206531|ICD10:N04.3			http://purl.obolibrary.org/obo/MONDO_0019658		UMLS:CN206531|ORPHA:93222
MONDO:0020635	anaplastic meningioma	biolink:Disease	mondo	NCIT:C4051|ONCOTREE:ANM|ICDO:9530/3		anaplastic meningioma|anaplastic (malignant) meningioma|malignant meningioma|meningioma, anaplastic, malignant|meningioma, malignant	http://purl.obolibrary.org/obo/MONDO_0020635	A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields).	NCIT:C4051
MONDO:0019657	obsolete sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes	biolink:Disease	mondo	Orphanet:93221|UMLS:CN206530|ICD10:N04.0			http://purl.obolibrary.org/obo/MONDO_0019657		UMLS:CN206530|ORPHA:93221
MONDO:0020634	grade III meningioma	biolink:Disease	mondo	NCIT:C38938		grade 3 meningioma|WHO grade III meningioma|grade III meningioma|meningioma, malignant	http://purl.obolibrary.org/obo/MONDO_0020634	A malignant meningioma with aggressive clinical course. It recurs in approximately 50-78% of the cases. This category includes the anaplastic (malignant) meningioma, papillary meningioma, and rhabdoid meningioma.	NCIT:C38938
MONDO:0020633	anaplastic cancer	biolink:Disease	mondo	NCIT:C36025|UMLS:C1332287		anaplastic malignant neoplasm	http://purl.obolibrary.org/obo/MONDO_0020633		NCIT:C36025|UMLS:C1332287
MONDO:0019659	Pfeiffer syndrome type 1	biolink:Disease	mondo	Orphanet:93258|ICD10:Q87.0|UMLS:CN206533	ordo_clinical_subtype	classic Pfeiffer syndrome	http://purl.obolibrary.org/obo/MONDO_0019659	Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development.	UMLS:CN206533|ORPHA:93258
MONDO:0019654	familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis	biolink:Disease	mondo	UMLS:CN206527|ICD10:N04.8|Orphanet:93217	ordo_histopathological_subtype		http://purl.obolibrary.org/obo/MONDO_0019654		UMLS:CN206527|ORPHA:93217
MONDO:0019653	familial idiopathic steroid-resistant nephrotic syndrome with minimal changes	biolink:Disease	mondo	Orphanet:93216|ICD10:N04.0|UMLS:CN206526	ordo_histopathological_subtype		http://purl.obolibrary.org/obo/MONDO_0019653		UMLS:CN206526|ORPHA:93216
MONDO:0019656	sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis	biolink:Disease	mondo	UMLS:CN206529|ICD10:N04.8|Orphanet:93220	ordo_histopathological_subtype		http://purl.obolibrary.org/obo/MONDO_0019656		UMLS:CN206529|ORPHA:93220
MONDO:0019655	sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis	biolink:Disease	mondo	UMLS:CN206528|ICD10:N04.1|Orphanet:93218	ordo_histopathological_subtype	sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis	http://purl.obolibrary.org/obo/MONDO_0019655		UMLS:CN206528|ORPHA:93218
MONDO:0019650	idiopathic steroid-sensitive nephrotic syndrome with minimal change	biolink:Disease	mondo	ICD10:N04.0|UMLS:CN206522|Orphanet:93207	ordo_histopathological_subtype	steroid-sensitive MCNS	http://purl.obolibrary.org/obo/MONDO_0019650		UMLS:CN206522|ORPHA:93207
HP:0004354	Abnormal circulating carboxylic acid concentration	biolink:PhenotypicFeature	mondo	UMLS:C4025344			http://purl.obolibrary.org/obo/HP_0004354	Any deviation from the normal concentration of a carboxylic acid in the blood circulation.	
MONDO:0019652	familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation	biolink:Disease	mondo	Orphanet:93214|UMLS:CN206525|ICD10:N04.3	ordo_histopathological_subtype		http://purl.obolibrary.org/obo/MONDO_0019652		UMLS:CN206525|ORPHA:93214
HP:0004352	Abnormal circulating purine concentration	biolink:PhenotypicFeature	mondo	UMLS:C4025346		Abnormal circulating purine level	http://purl.obolibrary.org/obo/HP_0004352	Any deviation from the normal concentration of a purine in the blood circulation.	
MONDO:0019651	idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation	biolink:Disease	mondo	ICD10:N04.3|UMLS:CN206523|Orphanet:93209	ordo_histopathological_subtype		http://purl.obolibrary.org/obo/MONDO_0019651		UMLS:CN206523|ORPHA:93209
MONDO:0005017	diffuse gastric adenocarcinoma	biolink:Disease	mondo	EFO:0000402|ONCOTREE:DSTAD|DOID:6217|NCIT:C9159		gastric diffuse adenocarcinoma|diffuse gastric adenocarcinoma|adenocarcinoma of linitis plastica type|diffuse type stomach adenocarcinoma|diffuse adenocarcinoma of the stomach|diffuse adenocarcinoma of stomach|diffuse stomach adenocarcinoma|stomach diffuse type adenocarcinoma|diffuse type carcinoma|carcinoma, diffuse type (morphologic abnormality)|diffuse type adenocarcinoma|adenocarcinoma of the linitis plastica type|carcinoma, diffuse type	http://purl.obolibrary.org/obo/MONDO_0005017	An adenocarcinoma arising from the stomach. Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. Many cells contain mucin droplets, producing a signet-ring configuration.	DOID:6217|NCIT:C9159
MONDO:0005016	diabetic nephropathy	biolink:Disease	mondo	MESH:D003928|EFO:0000401|ICD9:250.4|SCTID:127013003|ICD9:583.81|ICD9:250.40|NCIT:C84417		diabetic kidney disease|diabetic nephropathy	http://purl.obolibrary.org/obo/MONDO_0005016	Progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis.	MESH:D003928|SNOMEDCT:127013003|NCIT:C84417
MONDO:0005019	diffuse scleroderma	biolink:Disease	mondo	EFO:0000404|DOID:1580|MESH:D045743		systemic sclerosis, diffuse|diffuse systemic sclerosis	http://purl.obolibrary.org/obo/MONDO_0005019	A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement.	MESH:D045743|DOID:1580
MONDO:0007678	obsolete glycoprotein, renal	biolink:Disease	mondo	OMIM:138710		glycoprotein, renal	http://purl.obolibrary.org/obo/MONDO_0007678		http://identifiers.org/omim/138710
MONDO:0007679	GMS syndrome	biolink:Disease	mondo	MESH:C564214|OMIM:138770|GARD:0002523|Orphanet:2090|UMLS:C1841854|SCTID:716024001|ICD10:Q87.8	gard_rare|ordo_malformation_syndrome	GMS syndrome|Goniodysgenesis-intellectual disability-short stature syndrome|Goniodysgenesis--intellectual disability--short stature syndrome|Goniodysgenesis--mental retardation--short stature syndrome	http://purl.obolibrary.org/obo/MONDO_0007679	GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992.	ORPHA:2090|http://identifiers.org/omim/138770|MESH:C564214|UMLS:C1841854|SNOMEDCT:716024001
MONDO:0005018	obsolete diffuse large B-cell lymphoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005018		
MONDO:0007676	glutathione transferase activity toward trans-stilbene oxide	biolink:Disease	mondo	OMIM:138340		trans-stilbene oxide glutathione transferase activity|glutathione transferase activity toward trans-stilbene oxide	http://purl.obolibrary.org/obo/MONDO_0007676		http://identifiers.org/omim/138340
MONDO:0020632	epileptic encephalopathy, infantile or early childhood, 3	biolink:Disease	mondo	UMLS:CN248521|OMIM:618012		IECEE3|epileptic encephalopathy, infantile or early childhood, 3; IECEE3|epileptic encephalopathy, infantile or early childhood, 3	http://purl.obolibrary.org/obo/MONDO_0020632		http://identifiers.org/omim/618012|UMLS:CN248521
MONDO:0005013	dedifferentiated chondrosarcoma	biolink:Disease	mondo	UMLS:C0862878|ICDO:9243/3|EFO:0000394|ONCOTREE:DDCHS|NCIT:C6476		Dedifferentiated chondrosarcoma|DDCHS	http://purl.obolibrary.org/obo/MONDO_0005013	An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor.	UMLS:C0862878|NCIT:C6476
MONDO:0005012	cutaneous melanoma (disease)	biolink:Disease	mondo	ICD9:172.5|UMLS:C0151779|ICD9:172.4|ICD10:C43.4|EFO:0000389|ICD9:172.2|ICD10:C43.2|UMLS:C0153536|ICD9:172|ICD9:172.3|UMLS:C0153535|ICD9:172.0|ICD10:C43.0|ONCOTREE:SKCM|ICD10:C43|ICD9:172.9|NCIT:C3510|ICD10:C43.9|HP:0012056|DOID:8923|ICD9:172.8|SCTID:93655004		malignant cutaneous melanoma|malignant melanoma of skin of trunk except scrotum|melanoma (disease) of zone of skin|malignant melanoma of ear and/or external auricular canal|malignant melanoma of skin|melanoma of skin|zone of skin melanoma|malignant melanoma of skin of lower limb|melanoma of the skin|malignant neck melanoma|malignant melanoma of skin of upper limb|cutaneous (skin) melanoma|skin melanoma|malignant upper limb melanoma|cutaneous melanoma|malignant lower limb melanoma|malignant lip melanoma|malignant melanoma (of skin), stage unspecified|malignant trunk melanoma|skin, melanoma|malignant scalp melanoma|malignant ear melanoma|zone of skin melanoma (disease)|malignant melanoma of skin stage unspecified	http://purl.obolibrary.org/obo/MONDO_0005012	A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma.	UMLS:C0151779|SNOMEDCT:93655004|UMLS:C0153535|UMLS:C0153536|NCIT:C3510|DOID:8923
MONDO:0007677	hyperglycinuria (disease)	biolink:Disease	mondo	UMLS:C0543541|OMIM:138500|HP:0003108|MESH:C563009		Iminoglycinuria type 2|hyperglycinuria|Glycinuria with or without oxalate urolithiasis|Glycinuria with or without oxalate nephrolithiasis	http://purl.obolibrary.org/obo/MONDO_0007677		UMLS:C0543541|http://identifiers.org/omim/138500|MESH:C563009
UBERON:0004290	dermomyotome	biolink:AnatomicalEntity	mondo			dermamyotome|dermomyotomes	http://purl.obolibrary.org/obo/UBERON_0004290	The bilaminar epithelium formed from the myotome and dermatome.	
MONDO:0020631	epileptic encephalopathy, infantile or early childhood, 2	biolink:Disease	mondo	DOID:0080471|UMLS:CN757794|OMIM:617829		IECEE2|epileptic encephalopathy, infantile or early childhood, 2|epileptic encephalopathy, infantile or early childhood, 2; IECEE2	http://purl.obolibrary.org/obo/MONDO_0020631		http://identifiers.org/omim/617829|UMLS:CN757794|DOID:0080471
MONDO:0005015	diabetes mellitus (disease)	biolink:Disease	mondo	EFO:0000400|COHD:201820|ICD10:E08-E13|UMLS:C0011849|UMLS:C0011847|ICD10:E11|SCTID:73211009|DOID:9351|NCIT:C2985|MESH:D003920|HP:0000819|ICD10:E10.E14|ICD9:250		diabetes mellitus|DM|diabetes	http://purl.obolibrary.org/obo/MONDO_0005015	A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.	MESH:D003920|NCIT:C2985|SNOMEDCT:73211009|UMLS:C0011849|UMLS:C0011847|DOID:9351
MONDO:0020630	epileptic encephalopathy, infantile or early childhood, 1	biolink:Disease	mondo	DOID:0080472|OMIM:617711		epileptic encephalopathy, infantile or early childhood, 1; IECEE1|IECEE1	http://purl.obolibrary.org/obo/MONDO_0020630		http://identifiers.org/omim/617711|DOID:0080472
MONDO:0007674	glucose-6-phosphate dehydrogenase-like	biolink:Disease	mondo	OMIM:138110		G6PDL|glucose-6-phosphate dehydrogenase-like; G6PDL|glucose-6-phosphate dehydrogenase-like	http://purl.obolibrary.org/obo/MONDO_0007674		http://identifiers.org/omim/138110
MONDO:0007675	glutamic acid decarboxylase, brain, membrane form	biolink:Disease	mondo	OMIM:138277		glutamic acid decarboxylase, brain, membrane form	http://purl.obolibrary.org/obo/MONDO_0007675		http://identifiers.org/omim/138277
MONDO:0005014	obsolete dermatomyositis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005014	Inflammation of the skin and muscle.	
MONDO:0007672	glomuvenous malformation	biolink:Disease	mondo	ICD10:Q27.8|OMIM:138000|Orphanet:83454|UMLS:C1841984|MESH:C536827|MedDRA:10018381|SCTID:715644000	ordo_malformation_syndrome	GVM|glomus tumors, multiple|glomangiomas, multiple|multiple glomus tumors|GLOMUVENOUS malformations|glomangiomatosis|Venous malformations with glomus cells|GLOMUVENOUS malformations; GVM|VMGLOM|hereditary multiple glomangiomas	http://purl.obolibrary.org/obo/MONDO_0007672	Glomuvenous malformations (GVMs) are hereditary vascular malformations characterized by the presence of small, multifocal bluish-purple venous lesions involving the skin.	MEDDRA:10018381|MESH:C536827|ORPHA:83454|SNOMEDCT:715644000|UMLS:C1841984|http://identifiers.org/omim/138000
MONDO:0007673	Glucoglycinuria	biolink:Disease	mondo	MESH:C562670|UMLS:C0268536|OMIM:138070		Glucoglycinuria	http://purl.obolibrary.org/obo/MONDO_0007673		MESH:C562670|UMLS:C0268536|http://identifiers.org/omim/138070
MONDO:0005011	Crohn disease	biolink:Disease	mondo	EFO:0000384|DOID:8778|ICD9:555.1|SCTID:7620006|NCIT:C2965|UMLS:CN043071|ICD10:K50.1|COHD:201606		Crohn's disease|Crohn disease|granulomatous colitis|regional enteritis|Crohn's disease of large bowel|pediatric Crohn's disease|Crohn's disease of colon	http://purl.obolibrary.org/obo/MONDO_0005011	A gastrointestinal disorder characterized by chronic inflammation involving all layers of the intestinal wall, noncaseating granulomas affecting the intestinal wall and regional lymph nodes, and transmural fibrosis. Crohn disease most commonly involves the terminal ileum; the colon is the second most common site of involvement.	UMLS:CN043071|NCIT:C2965|SNOMEDCT:7620006|DOID:8778
MONDO:0007670	hypotrichosis-lymphedema-telangiectasia syndrome (grouping)	biolink:Disease	mondo	Orphanet:69735|GARD:0012827	ordo_disease	hypotrichosis lymphedema telangiectasia syndrome	http://purl.obolibrary.org/obo/MONDO_0007670	Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms.	ORPHA:69735
MONDO:0005010	coronary artery disease	biolink:Disease	mondo	MESH:D003324|ICD10:I25.1|ICD9:410-414.99|ICD10:K76.1|DOID:3393|ICD10:I25|SCTID:414024009|NCIT:C26732|ICD9:414.9|EFO:0001645|ICD10:I25.9|ICD10:I20-I25|COHD:317576|ICD10:I25.10|ICD9:414.0|GARD:0011944|UMLS:C1956346		CHD (coronary heart disease)|coronary artery disease|coronary disease|disease of coronary artery|coronary artery disease or disorder|disorder of coronary artery|coronary heart disease|CAD|CHD|coronary arteriosclerosis|disorder of coronary artery|disease or disorder of coronary artery	http://purl.obolibrary.org/obo/MONDO_0005010	Narrowing of the coronary arteries due to fatty deposits inside the arterial walls. The diagnostic criteria may include documented history of any of the following: documented coronary artery stenosis greater than or equal to 50% (by cardiac catheterization or other modality of direct imaging of the coronary arteries); previous coronary artery bypass surgery (CABG); previous percutaneous coronary intervention (PCI); previous myocardial infarction. (ACC)	DOID:3393|UMLS:C1956346|NCIT:C26732|MESH:D003324|SNOMEDCT:414024009
MONDO:0007671	fibronectin glomerulopathy	biolink:Disease	mondo	OMIMPS:137950|SCTID:236535001|ICD10:N07.6|MESH:C562900|GARD:0009268|MESH:C536826|DC:0000174|Orphanet:84090	ordo_disease|prototype_pattern|gard_rare	GFND2|glomerulopathy with fibronectin deposits|lobular glomerulopathy, familial|fibronectin glomerulopathy|glomerulopathy with giant fibrillar deposits|glomerulopathy with fibronectin deposits 2|glomerulopathy with fibronectin deposits 1|GFND1|GFND|glomerular nephritis, familial, with fibronectin deposits	http://purl.obolibrary.org/obo/MONDO_0007671	Fibronectin glomerulopathy is a hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life.	ORPHA:84090|MESH:C536826|SNOMEDCT:236535001|MESH:C562900
MONDO:0020629	microcephaly, growth restriction and increased sister chromatid exchange	biolink:Disease	mondo	OMIMPS:210900		MGRISCE	http://purl.obolibrary.org/obo/MONDO_0020629		
UBERON:0004297	respiratory system blood vessel smooth muscle	biolink:AnatomicalEntity	mondo			smooth muscle tissue of blood vessel of respiratory system	http://purl.obolibrary.org/obo/UBERON_0004297	A blood vessel smooth muscle that is part of a respiratory system [Automatically generated definition].	
MONDO:0020628	microcephaly, growth restriction, and increased sister chromatid exchange 2	biolink:Disease	mondo	OMIM:618097		microcephaly, growth restriction, and increased sister chromatid exchange 2; MGRISCE2|MGRISCE2	http://purl.obolibrary.org/obo/MONDO_0020628		http://identifiers.org/omim/618097
HP:0004368	Increased circulating purine concentration	biolink:PhenotypicFeature	mondo	UMLS:C4025332		Increased purine levels|Increased purine level	http://purl.obolibrary.org/obo/HP_0004368	Abnormally elevated concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring.	
MONDO:0020627	epileptic encephalopathy, infantile or early childhood	biolink:Disease	mondo	OMIMPS:617711			http://purl.obolibrary.org/obo/MONDO_0020627		
MONDO:0020626	obsolete yt blood group antigen	biolink:Disease	mondo	OMIM:112100		Cartwright Antigen|YT BLOOD GROUP ANTIGEN	http://purl.obolibrary.org/obo/MONDO_0020626		http://identifiers.org/omim/112100
UBERON:0004296	respiratory system lymphatic vessel smooth muscle	biolink:AnatomicalEntity	mondo			smooth muscle of lymph vessel of respiratory system	http://purl.obolibrary.org/obo/UBERON_0004296	A lymphatic vessel smooth muscle that is part of a respiratory system [Automatically generated definition].	
MONDO:0019647	congenital bilateral megacalycosis	biolink:Disease	mondo	ICD10:Q63.8|Orphanet:93177	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0019647		ORPHA:93177
MONDO:0020625	obsolete blood group--wright antigen	biolink:Disease	mondo	OMIM:112050		WR|Wright Blood Group Antigen|BLOOD GROUP--WRIGHT ANTIGEN; WR	http://purl.obolibrary.org/obo/MONDO_0020625		http://identifiers.org/omim/112050
UBERON:0004293	parasympathetic nerve	biolink:AnatomicalEntity	mondo			nerve of parasympathetic nervous system	http://purl.obolibrary.org/obo/UBERON_0004293	A nerve that is part of a parasympathetic nervous system [Automatically generated definition].	
MONDO:0020624	obsolete blood group--waldner type	biolink:Disease	mondo	OMIM:112010		Waldner Blood Group Antigen|WD|BLOOD GROUP--WALDNER TYPE; WD	http://purl.obolibrary.org/obo/MONDO_0020624		http://identifiers.org/omim/112010
MONDO:0019646	unilateral congenital megacalycosis	biolink:Disease	mondo	ICD10:Q63.8|Orphanet:93176	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0019646		ORPHA:93176
UBERON:0004294	glomerular capillary endothelium	biolink:AnatomicalEntity	mondo			renal glomerulus capillary endothelium	http://purl.obolibrary.org/obo/UBERON_0004294	An endothelium that is part of a glomerular capillary.	
MONDO:0020623	obsolete blood group--ul system	biolink:Disease	mondo	OMIM:112000		BLOOD GROUP--Ul SYSTEM; UL|UL	http://purl.obolibrary.org/obo/MONDO_0020623		http://identifiers.org/omim/112000
MONDO:0019649	idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis	biolink:Disease	mondo	Orphanet:93206|ICD10:N04.1|UMLS:CN206521	ordo_histopathological_subtype	idiopathic steroid-sensitive nephrotic syndrome with focal segmental glomerulosclerosis	http://purl.obolibrary.org/obo/MONDO_0019649		ORPHA:93206|UMLS:CN206521
UBERON:0004291	heart rudiment	biolink:AnatomicalEntity	mondo			heart cone|rudimentary heart	http://purl.obolibrary.org/obo/UBERON_0004291	A cone-like structure that is formed when myocardial progenitor cells of the heart field fuse at the midline. The heart rudiment is the first structure of the heart tube.	
UBERON:0004292	cardiac skeleton	biolink:AnatomicalEntity	mondo			trigonum fibrosum sinistrum cordis|heart fibrous skeleton|anulus fibrosus dexter cordis|trigona fibrosa|fibrous skeleton of heart|trigonum fibrosum dextrum cordis|cardiac fibrous skeleton|anulus fibrosus sinister cordis|skeleton of heart	http://purl.obolibrary.org/obo/UBERON_0004292	Dense connective tissue that separates the atria from the ventricles and provides physical support for the heart.	
MONDO:0019648	achondrogenesis	biolink:Disease	mondo	SCTID:2391001|OMIMPS:200600|MESH:C579878|MedDRA:10066122|NCIT:C84527|Orphanet:932|UMLS:C0001079|DOID:0080043|ICD10:Q77.0|GARD:0002882	ordo_disease|gard_rare		http://purl.obolibrary.org/obo/MONDO_0019648	Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.	NCIT:C84527|MEDDRA:10066122|UMLS:C0001079|DOID:0080043|SNOMEDCT:2391001|MESH:C579878|ORPHA:932
MONDO:0020622	obsolete blood group--stoltzfus system	biolink:Disease	mondo	OMIM:111800		Sf|BLOOD GROUP--STOLTZFUS SYSTEM; Sf	http://purl.obolibrary.org/obo/MONDO_0020622		http://identifiers.org/omim/111800
MONDO:0019643	transient pseudohypoaldosteronism	biolink:Disease	mondo	SCTID:717263009|UMLS:C4273962|Orphanet:93164|UMLS:CN776908|ICD10:N15.8	ordo_malformation_syndrome	TPHA	http://purl.obolibrary.org/obo/MONDO_0019643	Transient pseudohypoaldosteronism is a renal tubulopathy characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis and hyperkalemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants.	SNOMEDCT:717263009|UMLS:C4273962|ORPHA:93164|UMLS:CN776908
MONDO:0019642	vitamin D-dependent rickets, type 2	biolink:Disease	mondo	NCIT:C131077|SCTID:72831007|ICD10:E83.3|Orphanet:93160	ordo_disease	vitamin D-resistant rickets type II|vitamin D dependent rickets 2|hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal Vitamin D receptor|HVDRR|vitamin D-dependent rickets, type 2|vitamin D receptor deficiency|VDDR2|VDDR II|hereditary vitamin D-resistant rickets|vitamin D-dependent rickets type II|VDRR II|hypocalcemic vitamin D-resistant rickets	http://purl.obolibrary.org/obo/MONDO_0019642	Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia.	SNOMEDCT:72831007|NCIT:C131077|ORPHA:93160
HP:0004360	Abnormality of acid-base homeostasis	biolink:PhenotypicFeature	mondo	MSH:D000137|UMLS:C0001118		Acid base imbalance	http://purl.obolibrary.org/obo/HP_0004360	An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH.	
MONDO:0019645	renal dysplasia, bilateral	biolink:Disease	mondo	HP:0012582|SCTID:204950001|Orphanet:93173|ICD10:Q61.4	ordo_clinical_subtype	bilateral renal dysplasia	http://purl.obolibrary.org/obo/MONDO_0019645	Bilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD.	SNOMEDCT:204950001|UMLS:C0431698|ORPHA:93173
MONDO:0019644	renal dysplasia, unilateral	biolink:Disease	mondo	HP:0008718|ICD10:Q61.4|Orphanet:93172	ordo_clinical_subtype	unilateral renal dysplasia	http://purl.obolibrary.org/obo/MONDO_0019644	Unilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD.	UMLS:C0431697|ORPHA:93172
HP:0004364	Abnormal circulating nitrogen compound concentration	biolink:PhenotypicFeature	mondo	UMLS:C4025336			http://purl.obolibrary.org/obo/HP_0004364	Any deviation from the normal concentration of a nitrogen compound in the blood circulation.	
MONDO:0019641	pauci-immune glomerulonephritis	biolink:Disease	mondo	Orphanet:93126|ICD10:N05.7	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019641	Pauci-immune glomerulonephritis (GN) is one of the most frequent causes of rapidly progressive GN (RPGN). It is characterized clinically by renal manifestations of RPGN (hematuria, hypertension) leading to renal failure within days or weeks, and may be associated with manifestations of systemic vasculitis (arthralgia, fever, seizures, mono neuritis and lung involvement). Pauci-immune GN is histologically characterized by focal necrotizing and crescentic GN, with mild or absent glomerular staining for immunoglobulin and complement by fluorescence microscopy, which may manifest either as part of a systemic small vessel vasculitis (including microscopic polyangiitis, granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis), or rarely as part of renal-limited vasculitis (RLV, idiopathic crescentic GN). Immunologic classification is based on the presence or absence of circulating anti-neutrophil cytoplasmic antibodies (ANCAs), namely pauci-immune-GN with ANCA and pauci-immune GN without ANCA.	ORPHA:93126
HP:0004363	Abnormal circulating calcium concentration	biolink:PhenotypicFeature	mondo			Abnormal circulating Ca2+ concentration|Abnormal blood calcium levels|Abnormal circulating Ca concentration|Abnormal blood calcium concentration	http://purl.obolibrary.org/obo/HP_0004363	Any deviation from the normal concentration of calcium in the blood circulation.	
MONDO:0019640	posterior urethral valve	biolink:Disease	mondo	MedDRA:10036369|UMLS:CN227669|UMLS:C0238506|NCIT:C99021|ICD9:753.8|GARD:0007439|Orphanet:93110|SCTID:253900005|ICD10:Q64.2	ordo_morphological_anomaly	congenital posterior urethral valves|PUV|Posterior urethral valves	http://purl.obolibrary.org/obo/MONDO_0019640	Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO)and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying.	UMLS:C0238506|MEDDRA:10036369|UMLS:CN227669|SNOMEDCT:253900005|UMLS:C0542520|NCIT:C99021|ORPHA:93110
MONDO:0007649	gastric juice peptides	biolink:Disease	mondo	OMIM:137220		gastric juice peptides	http://purl.obolibrary.org/obo/MONDO_0007649		http://identifiers.org/omim/137220
MONDO:0007647	gastric volvulus, intrathoracic	biolink:Disease	mondo	MESH:C564989|UMLS:C1850902|OMIM:137210		gastric volvulus, intrathoracic	http://purl.obolibrary.org/obo/MONDO_0007647		UMLS:C1850902|http://identifiers.org/omim/137210|MESH:C564989
MONDO:0007648	hereditary diffuse gastric adenocarcinoma	biolink:Disease	mondo	ICD10:C16.9|OMIM:137215|GARD:0010900|DOID:0080763|Orphanet:26106|NCIT:C43295|SCTID:716859000|GARD:0010334|UMLS:C1708349	gard_rare|ordo_disease|clingen	signet ring gastric carcinoma|gastric cancer, familial diffuse|breast cancer, lobular|signet ring cell gastric carcinoma|diffuse gastric cancer|FDGC|familial diffuse cancer of stomach|gastric cancer, familial diffuse, and cleft lip with or without cleft palate|hereditary diffuse gastric cancer|familial diffuse gastric cancer|gastric cancer, hereditary diffuse; HDGC|HDGC|signet cell adenocarcinoma|gastric cancer, hereditary diffuse|hereditary diffuse gastric adenocarcinoma|hereditary diffuse cancer of stomach	http://purl.obolibrary.org/obo/MONDO_0007648	An autosomal dominant inherited adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of poorly cohesive malignant cells and absence of glandular formations.	NCIT:C43295|UMLS:C1708349|http://identifiers.org/omim/137215|SNOMEDCT:716859000|ORPHA:26106|DOID:0080763
MONDO:0007645	gastric sneezing	biolink:Disease	mondo	UMLS:C1850930|MESH:C564990|OMIM:137130		stomach sneeze reflex|gastric sneezing	http://purl.obolibrary.org/obo/MONDO_0007645		UMLS:C1850930|http://identifiers.org/omim/137130|MESH:C564990
MONDO:0007646	Gamstorp-Wohlfart syndrome	biolink:Disease	mondo	UMLS:CN074193|GARD:0012353|SCTID:711406009|DOID:0050526|Orphanet:324442|OMIM:137200|ICD10:G60.0	ordo_disease	autosomal recessive neuromyotonia and axonal neuropathy|myokymia, myotonia and muscle wasting|ARCMT2-NM|autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia|neuromyotonia and axonal neuropathy, autosomal recessive; NMAN|NMAN|Gamstorp-Wohlfart syndrome|ARAN-NM|autosomal recessive axonal neuropathy with neuromyotonia|myokymia, myotonia, and muscle wasting|neuromyotonia and axonal neuropathy, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0007646	Autosomal recessive axonal neuropathy with neuromyotonia is a rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment.	ORPHA:324442|UMLS:CN074193|http://identifiers.org/omim/137200|SNOMEDCT:711406009|DOID:0050526
MONDO:0007643	gamma-A-globulin, defect in assembly of	biolink:Disease	mondo	OMIM:137050|UMLS:C1850934|MESH:C564991		Immunoglobulin A, defect in Assembly of|IgA, defect in Assembly of|gamma-A-globulin, defect in ASSEMBLY OF	http://purl.obolibrary.org/obo/MONDO_0007643		http://identifiers.org/omim/137050|UMLS:C1850934|MESH:C564991
MONDO:0020621	obsolete blood group--scianna system	biolink:Disease	mondo	OMIM:111750		SC|BLOOD GROUP--SCIANNA SYSTEM; SC|Scianna Blood Group	http://purl.obolibrary.org/obo/MONDO_0020621		http://identifiers.org/omim/111750
MONDO:0007644	IgAD1	biolink:Disease	mondo	NCIT:C123434|COHD:433171|MESH:C536290|OMIM:137100		IgAD1|Immunoglobulin A, selective deficiency of|IgA, selective deficiency of|IMMUNOGLOBULIN A deficiency 1; IgAD1|IMMUNOGLOBULIN A deficiency 1|gamma-A-globulin, selective deficiency of	http://purl.obolibrary.org/obo/MONDO_0007644	Decreased or absent levels of serum immunoglobulin A, with normal serum levels of immunoglobulin G and immunoglobulin M in a patient who is older than 4 years of age and in whom all other causes of hypogammaglobulinemia have been excluded. Affected individuals may be asymptomatic or have frequent infections, allergic reactions, or autoimmune disorders.	NCIT:C123434|http://identifiers.org/omim/137100|MESH:C536290
MONDO:0020620	obsolete blood group, ss	biolink:Disease	mondo	OMIM:111740		Ss Blood Group|BLOOD GROUP, Ss; Ss|Ss	http://purl.obolibrary.org/obo/MONDO_0020620		http://identifiers.org/omim/111740
MONDO:0007641	obsolete Futcher line	biolink:Disease	mondo	OMIM:137000		Voigt lines|Futcher line|pigmentary demarcation lines	http://purl.obolibrary.org/obo/MONDO_0007641		http://identifiers.org/omim/137000
MONDO:0007642	isolated agenesis of gallbladder	biolink:Disease	mondo	Orphanet:440987|MESH:C562564|ICD10:Q44.0|OMIM:137040	ordo_morphological_anomaly	gallbladder, agenesis OF	http://purl.obolibrary.org/obo/MONDO_0007642		http://identifiers.org/omim/137040|ORPHA:440987|MESH:C562564
MONDO:0007640	Sorsby's fundus dystrophy	biolink:Disease	mondo	ICD10:H35.5|DOID:0090114|GARD:0010511|OMIM:136900|Orphanet:59181|MESH:C564992|SCTID:193410003	ordo_disease	hemorrhagic macular dystrophy|Sorsby's pseudoinflammatory macular dystrophy|Sorsby pseudoinflammatory fundus dystrophy|SFD|macular dystrophy, hemorrhagic|Sorsby fundus dystrophy; SFD|pseudoinflammatory fundus dystrophy of Sorsby|fundus dystrophy, pseudoinflammatory, of Sorsby|Sorsby fundus dystrophy	http://purl.obolibrary.org/obo/MONDO_0007640	Sorsby's fundus dystrophy is a rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness.	SNOMEDCT:193410003|UMLS:C0339515|DOID:0090114|http://identifiers.org/omim/136900|MESH:C564992|ORPHA:59181
MONDO:0020618	obsolete blood group--private systems	biolink:Disease	mondo	OMIM:111500		BLOOD GROUP--PRIVATE SYSTEMS|antigenic Determinants of Low Frequency in the Population	http://purl.obolibrary.org/obo/MONDO_0020618		http://identifiers.org/omim/111500
MONDO:0019639	congenital megacalycosis	biolink:Disease	mondo	ICD9:753.3|SCTID:85901000|Orphanet:93109|ICD10:Q63.8	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0019639	Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection.	ORPHA:93109|SNOMEDCT:85901000
MONDO:0020617	obsolete blood group--ok	biolink:Disease	mondo	OMIM:111380		OK|BLOOD GROUP--OK; OK	http://purl.obolibrary.org/obo/MONDO_0020617		http://identifiers.org/omim/111380
MONDO:0020616	obsolete blood group, mn	biolink:Disease	mondo	OMIM:111300		Blood Group, Mnss System|MN|Mns Blood Group Systed|Mn Blood Group|Mnss Blood Group System|BLOOD GROUP, MN; MN	http://purl.obolibrary.org/obo/MONDO_0020616		http://identifiers.org/omim/111300
MONDO:0020615	obsolete blood group system, landsteiner-wiener	biolink:Disease	mondo	OMIM:111250		Landsteiner-Wiener Blood Group System|LW|BLOOD GROUP SYSTEM, LANDSTEINER-WIENER; LW	http://purl.obolibrary.org/obo/MONDO_0020615		http://identifiers.org/omim/111250
MONDO:0020614	obsolete blood group--lutheran system	biolink:Disease	mondo	OMIM:111200		BLOOD GROUP--LUTHERAN SYSTEM; LU|Auberger System|LU	http://purl.obolibrary.org/obo/MONDO_0020614		http://identifiers.org/omim/111200
MONDO:0019636	renal agenesis, unilateral	biolink:Disease	mondo	UMLS:C0266294|NCIT:C101220|Orphanet:93100|MedDRA:10053624|ICD10:Q60.0	ordo_clinical_subtype	unilateral renal agenesis|congenital single kidney|congenital solitary kidney	http://purl.obolibrary.org/obo/MONDO_0019636	Unilateral renal agenesis (URA) is a form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter.	ORPHA:93100|MEDDRA:10053624|UMLS:C0266294|NCIT:C101220
MONDO:0019635	idiopathic achalasia	biolink:Disease	mondo	MedDRA:10036669|UMLS:C1860213|SCTID:715192004|UMLS:C0859976|Orphanet:930|ICD10:K22.0|GARD:0005708	ordo_disease	idiopathic achalasia of esophagus|primary achalasia|achalasia cardia	http://purl.obolibrary.org/obo/MONDO_0019635	Idiopathic achalasia (IA) is a primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition.	UMLS:C0859976|UMLS:C1860213|MESH:C536011|MEDDRA:10036669|ORPHA:930|SNOMEDCT:715192004
MONDO:0020613	obsolete blood group--lke	biolink:Disease	mondo	OMIM:111130		Blood Group--Luke|LKE|BLOOD GROUP--LKE; LKE|Blood Group--Luke, Formerly	http://purl.obolibrary.org/obo/MONDO_0020613		http://identifiers.org/omim/111130
HP:0004339	Abnormal circulating sulfur amino acid concentration	biolink:PhenotypicFeature	mondo	UMLS:C4021660		Abnormality of sulfur-containing amino acids|Abnormal circulating sulphur amino acid concentration	http://purl.obolibrary.org/obo/HP_0004339	Any deviation from the normal concentration of a sulfur amino acid in the blood circulation.	
MONDO:0019638	renal dysplasia (disease)	biolink:Disease	mondo	COHD:201111|HP:0000110|Orphanet:93108|ICD10:Q61.4	ordo_morphological_anomaly	renal dysplasia	http://purl.obolibrary.org/obo/MONDO_0019638	Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia.	ORPHA:93108
MONDO:0020612	obsolete blood group, kidd system	biolink:Disease	mondo	OMIM:111000		BLOOD GROUP, KIDD SYSTEM; JK|Kidd Blood Group System|JK	http://purl.obolibrary.org/obo/MONDO_0020612		http://identifiers.org/omim/111000
HP:0004338	Abnormal circulating aromatic amino acid concentration	biolink:PhenotypicFeature	mondo	UMLS:C4025352		Abnormality of aromatic amino acid family metabolism	http://purl.obolibrary.org/obo/HP_0004338	Any deviation from the normal concentration of a aromatic amino acid in the blood circulation.	
MONDO:0019637	renal hypoplasia (disease)	biolink:Disease	mondo	HP:0000089|ICD10:Q60.3|Orphanet:93101|ICD10:Q60.5|DOID:0080204|MedDRA:10049102|SCTID:32659003|ICD10:Q60.4	ordo_morphological_anomaly	renal hypoplasia	http://purl.obolibrary.org/obo/MONDO_0019637	Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively) have a deficit in the number of nephrons and may be small. Oligomeganephronia represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied.	ORPHA:93101|MEDDRA:10049102|SNOMEDCT:32659003|DOID:0080204
MONDO:0020611	obsolete blood group--kell system	biolink:Disease	mondo	OMIM:110900		K(0)|Ko|BLOOD GROUP--KELL SYSTEM; KEL|KEL|Kell-Null|Blood Group--Kell-Cellano System	http://purl.obolibrary.org/obo/MONDO_0020611		http://identifiers.org/omim/110900
HP:0004337	Abnormality of amino acid metabolism	biolink:PhenotypicFeature	mondo	UMLS:C1328440		Amino acid levels abnormal	http://purl.obolibrary.org/obo/HP_0004337	Abnormality of an amino acid metabolic process.	
MONDO:0019632	Lyme disease	biolink:Disease	mondo	GARD:0012073|COHD:440638|Orphanet:91546|NCIT:C45161|DOID:11729|MedDRA:10025169|ICD10:A69.20|MESH:D008193|ICD10:A69.2|ICD9:088.81|EFO:0008510|UMLS:C0024198|SCTID:48982009	ordo_disease	Borrelia burgdorferi infection|Lyme borreliosis|Lyme disease|neuroborreliosis|Borreliella burgdorferi disease or disorder|Borreliella burgdorferi infectious disease|Borreliella burgdorferi caused disease or disorder|Bannworth's syndrome|Borrelia|Bannwarth syndrome|neurological Lyme disease|Lyme neuroborreliosis	http://purl.obolibrary.org/obo/MONDO_0019632	Lyme disease (named after the towns in the USA where the disease was first identified) is a bacterial infection caused by Borrelia burgdorferi.	MEDDRA:10025169|ORPHA:91546|MESH:D008193|NCIT:C45161|UMLS:C0024198|SNOMEDCT:48982009|DOID:11729
MONDO:0019631	persistent hyperplastic primary vitreous	biolink:Disease	mondo	SCTID:314270008|Orphanet:91495|OMIMPS:221900|ICD10:Q14.0|MESH:D054514|DOID:0060282	ordo_disease	persistent fetal vasculature syndrome|PFVS|PHPV|non-syndromic congenital retinal non-attachment|ncRNA disease|congenital retinal detachment	http://purl.obolibrary.org/obo/MONDO_0019631	A developmental ocular anomaly in which the primary vitreous body and its surrounding hyaloid vasculature failed to regress. It is usually unilateral and characterized by cataract; microphthalmos (small eyeballs), and retrolenticular fibrovascular tissue. (from Yanoff: Ophthalmology, 2nd ed.)	SNOMEDCT:314270008|ORPHA:91495|UMLS:C0266568|MESH:D054514|DOID:0060282
MONDO:0019634	familial nasal acilia	biolink:Disease	mondo	SCTID:763532008|Orphanet:922|UMLS:CN206502|GARD:0002254|ICD10:Q30.8	gard_rare|ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019634	Familial nasal acilia is a rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions.	ORPHA:922|SNOMEDCT:763532008|UMLS:CN206502
MONDO:0019633	relapsing fever	biolink:Disease	mondo	MESH:D012061|ICD10:A68|Orphanet:91547|COHD:440637|DOID:13034|SCTID:420079008|ICD10:A68.9|MedDRA:10038300|ICD10:A68.1|ICD10:A68.0|ICD9:087|ICD9:087.9|UMLS:C0035021	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019633	Relapsing fever is an infection caused by bacteria of the genus Borrelia, excluding those responsible for Lyme disease belonging to the Borrelia burgdorferi complex.	MEDDRA:10038300|SNOMEDCT:420079008|ORPHA:91547|MESH:D012061|DOID:13034|UMLS:C0035021
HP:0004332	Abnormal lymphocyte morphology	biolink:PhenotypicFeature	mondo	UMLS:C0427546|SNOMEDCT_US:250284007		Abnormal lymphocytes|Abnormality of cells of the lymphoid lineage	http://purl.obolibrary.org/obo/HP_0004332	An abnormality of lymphocytes.	
MONDO:0019630	congenital ectropion uveae	biolink:Disease	mondo	Orphanet:91491|ICD10:Q10.1	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0019630	Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities.	ORPHA:91491
UBERON:0004288	skeleton	biolink:AnatomicalEntity	mondo			set of bones of body|set of all bones	http://purl.obolibrary.org/obo/UBERON_0004288	Anatomical cluster that consists of all the skeletal elements (eg., bone, cartilage, and teeth) of the body.	
MONDO:0020619	obsolete blood group, langereis system	biolink:Disease	mondo	OMIM:111600		BLOOD GROUP, LANGEREIS SYSTEM; LAN|LAN	http://purl.obolibrary.org/obo/MONDO_0020619		http://identifiers.org/omim/111600
MONDO:0007658	obsolete spitz nevus	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0007658	A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.	
MONDO:0007659	obsolete giant platelet syndrome with thrombocytopenia	biolink:Disease	mondo	MESH:C564237|OMIM:137560|UMLS:C1842035		moved to 155100|giant platelet syndrome with thrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0007659		http://identifiers.org/omim/137560|UMLS:C1842035|MESH:C564237
MONDO:0007656	Gerstmann-Straussler-Scheinker syndrome	biolink:Disease	mondo	Orphanet:356|NCIT:C84727|UMLS:C0017495|OMIM:137440|MedDRA:10072075|SCTID:67155006|DOID:4249|MESH:C535800|ICD10:A81.82|GARD:0007690|ICD9:046.71|ICD10:A81.8	ordo_disease	cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system|cerebellar ataxia, progressive dementia, and amyloid deposits in CNS|Gerstmann Straussler Scheinker syndrome|amyloidosis cerebral with spongiform encephalopathy|amyloidosis, cerebral, with spongiform encephalopathy|encephalopathy, Subacute spongiform, Gerstmann-Straussler type|prion dementia|Gerstmann-Straussler-Scheinker disease|GSD|cerebral amyloid angiopathy, Prnp-related|Gerstmann-Straussler disease; GSD|subacute spongiform encephalopathy, Gerstmann-Straussler type|encephalopathy subacute spongiform Gerstmann-Straussler type|Gerstmann-Straussler disease	http://purl.obolibrary.org/obo/MONDO_0007656	A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia.	NCIT:C84727|http://identifiers.org/omim/137440|ORPHA:356|DOID:4249|MESH:C535800|MEDDRA:10072075|MESH:D016098|UMLS:C0017495|SNOMEDCT:67155006
MONDO:0007657	giant neutrophil leukocytes	biolink:Disease	mondo	UMLS:C1842039|OMIM:137500		giant neutrophil leukocytes	http://purl.obolibrary.org/obo/MONDO_0007657		http://identifiers.org/omim/137500|UMLS:C1842039
MONDO:0007654	genu valgum, st. Helena familial	biolink:Disease	mondo	UMLS:C1842052|GARD:0008429|MESH:C537685|OMIM:137370	gard_rare	St. Helena familial genu valgum|hereditary pubertal genu valgum|genu valgum, hereditary pubertal|genu valgum, st Helena familial|severe 'knock-knees' and variable lesser malalignment at the elbows and wrists|genu valgum, st. Helena familial	http://purl.obolibrary.org/obo/MONDO_0007654		http://identifiers.org/omim/137370|MESH:C537685|UMLS:C1842052
MONDO:0020610	obsolete blood group, diego system	biolink:Disease	mondo	OMIM:110500		Diego Blood Group System|BLOOD GROUP, DIEGO SYSTEM; DI|DI	http://purl.obolibrary.org/obo/MONDO_0020610		http://identifiers.org/omim/110500
MONDO:0007655	fissured tongue	biolink:Disease	mondo	UMLS:C0040412|OMIM:137400|SCTID:52368004|GARD:0006493|ICD10:K14.5|COHD:441896|MESH:D014063|DOID:11514|UMLS:C1842051|ICD9:529.5|ICD9:750.13		geographic tongue and fissured tongue|tongue, fissured|congenital plicated tongue|lingua plicata|ectopic geographic tongue|Furrowed tongue|fissure of tongue|fissure of tongue, congenital|erythema migrans|scrotal tongue|glossitis, benign migratory|congenital fissure of tongue|geographic and fissured tongue|plicated tongue	http://purl.obolibrary.org/obo/MONDO_0007655		SNOMEDCT:52368004|MESH:D014063|http://identifiers.org/omim/137400|UMLS:C1842051|UMLS:C0040412|DOID:11514
MONDO:0007652	gastric mucosal hypertrophy	biolink:Disease	mondo	MedDRA:10017807|ICD9:535.20|DOID:8757|SCTID:60002000|OMIM:137280|COHD:201059|Orphanet:2494|GARD:0002436|ICD9:535.21|ICD10:K29.6|UMLS:C0017155|EFO:1000946|MESH:D005758|NCIT:C67277|MedDRA:10017868|ICD9:535.2	ordo_disease	Menetrier disease|giant hypertrophic gastropathy|gastritis, familial giant hypertrophic|MENETRIER disease|hypoproteinemic hypertrophic gastropathy|giant hypertrophic gastritis|giant hypertrophy of the gastric mucosa|hypertrophic gastritis|Gastroenteropathy, protein losing|familial giant hypertrophic gastritis|hypertrophic gastropathy|giant rugal hypertrophy of stomach|Menetrier's disease|Ménétrier disease	http://purl.obolibrary.org/obo/MONDO_0007652	MC)nC)trier disease (MD) is a rare premalignant hyperproliferative gastropathy characterized by massive overgrowth of foveolar cells in the gastric lining, resulting in large gastric folds, and manifesting with epigastric pain, nausea, vomiting, peripheral edema and, less commonly, anorexia and weight loss.	DOID:8757|ORPHA:2494|http://identifiers.org/omim/137280|MEDDRA:10017868|MEDDRA:10017807|SNOMEDCT:60002000|UMLS:C0017155|NCIT:C67277|MESH:D005758
MONDO:0007653	genochondromatosis	biolink:Disease	mondo	MESH:C563215|UMLS:C1300229|GARD:0010621|OMIM:137360|SCTID:389264005	prototype_pattern|gard_rare	genochondromatosis	http://purl.obolibrary.org/obo/MONDO_0007653		http://identifiers.org/omim/137360|UMLS:C1300229|MESH:C563215|SNOMEDCT:389264005
MONDO:0007650	MALT lymphoma	biolink:Disease	mondo	MedDRA:10060707|NCIT:C3898|Orphanet:52417|UMLS:C0242647|OMIM:137245|Wikipedia:MALT_lymphoma|SCTID:277622004|UMLS:C1850900|COHD:40482893|ICDO:9699/3|DOID:0050909|ONCOTREE:EMALT|ICD9:202.80|EFO:0000191|GARD:0006485|ICD10:C88.4	ordo_disease	MALToma|mucosa-associated lymphatic tissue lymphoma|Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue|MALT lymphoma|MALT-lymphoma|lymphoma, mucosa-associated lymphoid type|lymphoma of mucosa-associated lymphoid tissue|extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma)|mucosa-associated lymphoid tissue lymphoma|gastric lymphoma, primary|familial primary gastric lymphoma|Extranodal marginal zone B-cell lymphoma|Immunocytoma|Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue|Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT-lymphoma)	http://purl.obolibrary.org/obo/MONDO_0007650	An indolent, extranodal type of non-Hodgkin lymphoma composed of small B-lymphocytes (centrocyte-like cells). The gastrointestinal tract is the most common site of involvement. Other common sites of involvement include lung, head and neck, ocular adnexae, skin, thyroid, and breast. Gastric involvement is associated with the presence of H. pylori infection. (WHO, 2001)	NCIT:C3898|UMLS:C0242647|UMLS:C1850900|http://identifiers.org/omim/137245|SNOMEDCT:277622004|DOID:0050909|ORPHA:52417|MEDDRA:10060707
MONDO:0007651	gastrocutaneous syndrome	biolink:Disease	mondo	GARD:0002438|MESH:C535651|Orphanet:2069|OMIM:137270|UMLS:C1850899	ordo_disease|gard_rare	peptic Ulcer/hiatal hernia, multiple lentigines/cafe-Au-lait Spots, hypertelorism, myopia|gastrocutaneous syndrome	http://purl.obolibrary.org/obo/MONDO_0007651		ORPHA:2069|UMLS:C1850899|http://identifiers.org/omim/137270|MESH:C535651
MONDO:0019629	sclerocornea (disease)	biolink:Disease	mondo	ICD10:Q13.3|DOID:0060252|Orphanet:91490|MESH:C565209|HP:0000647	ordo_morphological_anomaly	sclerocornea|isolated congenital sclerocornea	http://purl.obolibrary.org/obo/MONDO_0019629	A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea.	DOID:0060252|ORPHA:91490|MESH:C565209
UBERON:0004275	third ventricle choroid plexus epithelium	biolink:AnatomicalEntity	mondo			epithelium of chorioid plexus of cerebral hemisphere of third ventricle|third ventricle epithelial tissue of chorioid plexus of cerebral hemisphere|third ventricle epithelium of chorioid plexus of cerebral hemisphere|epithelial tissue of chorioid plexus of cerebral hemisphere of third ventricle|epithelium of choroid plexus of third ventricle|choroid plexus epithelium of third ventricle|epithelial tissue of choroid plexus of third ventricle|chorioid plexus of cerebral hemisphere epithelium of third ventricle|third ventricle choroid plexus epithelial tissue|third ventricle chorioid plexus of cerebral hemisphere epithelial tissue|chorioid plexus of cerebral hemisphere epithelial tissue of third ventricle|choroid plexus epithelial tissue of third ventricle|third ventricle chorioid plexus of cerebral hemisphere epithelium|third ventricle epithelium of choroid plexus|third ventricle epithelial tissue of choroid plexus	http://purl.obolibrary.org/obo/UBERON_0004275	A choroid plexus epithelium that is part of a third ventricle [Automatically generated definition].	
MONDO:0020607	Liddle syndrome 1	biolink:Disease	mondo	OMIM:177200		Liddle syndrome 1; LIDLS1|Pseudoaldosteronism|LIDLS1|Liddle syndrome|Liddle syndrome caused by mutation in SCNN1B|SCNN1B Liddle syndrome	http://purl.obolibrary.org/obo/MONDO_0020607	Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1B gene.	http://identifiers.org/omim/177200
UBERON:0004276	fourth ventricle choroid plexus epithelium	biolink:AnatomicalEntity	mondo			chorioid plexus of cerebral hemisphere epithelium of fourth ventricle|fourth ventricle epithelium of choroid plexus|epithelial tissue of choroid plexus of fourth ventricle|choroid plexus epithelium of fourth ventricle|fourth ventricle epithelium of chorioid plexus of cerebral hemisphere|epithelial tissue of chorioid plexus of cerebral hemisphere of fourth ventricle|epithelium of choroid plexus of fourth ventricle|epithelium of chorioid plexus of cerebral hemisphere of fourth ventricle|fourth ventricle choroid plexus epithelial tissue|fourth ventricle chorioid plexus of cerebral hemisphere epithelial tissue|fourth ventricle chorioid plexus of cerebral hemisphere epithelium|fourth ventricle epithelial tissue of choroid plexus|choroid plexus epithelial tissue of fourth ventricle|fourth ventricle epithelial tissue of chorioid plexus of cerebral hemisphere|chorioid plexus of cerebral hemisphere epithelial tissue of fourth ventricle	http://purl.obolibrary.org/obo/UBERON_0004276	A choroid plexus epithelium that is part of a fourth ventricle [Automatically generated definition].	
MONDO:0020606	sex-linked disease	biolink:Disease	mondo	SCTID:82852009|ICD9:758.81		sex-linked hereditary disorder	http://purl.obolibrary.org/obo/MONDO_0020606		SNOMEDCT:82852009
MONDO:0019628	Rieger anomaly	biolink:Disease	mondo	ICD10:Q13.8|Orphanet:91483|MedDRA:10059198	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0019628	Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of AxenfeldBs anomaly.	ORPHA:91483|MEDDRA:10059198
UBERON:0004273	cartilaginous joint suture	biolink:AnatomicalEntity	mondo			articulatio cartilaginea suture of cranium|cranial suture of cartilaginous joint|articulatio cartilaginea cranial sutures|articulatio cartilaginea cranial suture|cartilaginous joint cranial sutures set|cartilaginous joint suture of cranium|cranium suture of cartilaginous joint|cartilaginous joint cranial sutures|cranial sutures set of articulatio cartilaginea|suture of cranium of articulatio cartilaginea|cranial sutures of cartilaginous joint|cranial sutures of articulatio cartilaginea|suture of cranium of cartilaginous joint|cranial sutures set of cartilaginous joint|cartilaginous joint cranium suture|cranium suture of articulatio cartilaginea|cartilaginous joint cranial suture|articulatio cartilaginea cranium suture|cranial suture of articulatio cartilaginea|articulatio cartilaginea cranial sutures set	http://purl.obolibrary.org/obo/UBERON_0004273	A cranial suture that is part of a cartilaginous joint [Automatically generated definition].	
MONDO:0020605	X-linked recessive disease	biolink:Disease	mondo	DOID:0080012			http://purl.obolibrary.org/obo/MONDO_0020605	X-linked recessive form of disease.	DOID:0080012
UBERON:0004274	lateral ventricle choroid plexus epithelium	biolink:AnatomicalEntity	mondo			lateral ventricle epithelium of chorioid plexus of cerebral hemisphere|lateral ventricle epithelial tissue of chorioid plexus of cerebral hemisphere|epithelium of choroid plexus of lateral ventricle|epithelial tissue of chorioid plexus of cerebral hemisphere of lateral ventricle|choroid plexus epithelium of lateral ventricle|epithelial tissue of choroid plexus of lateral ventricle|chorioid plexus of cerebral hemisphere epithelium of lateral ventricle|lateral ventricle choroid plexus epithelial tissue|lateral ventricle chorioid plexus of cerebral hemisphere epithelial tissue|chorioid plexus of cerebral hemisphere epithelial tissue of lateral ventricle|choroid plexus epithelial tissue of lateral ventricle|lateral ventricle chorioid plexus of cerebral hemisphere epithelium|lateral ventricle epithelial tissue of choroid plexus|lateral ventricle epithelium of choroid plexus|epithelium of chorioid plexus of cerebral hemisphere of lateral ventricle	http://purl.obolibrary.org/obo/UBERON_0004274	A choroid plexus epithelium that is part of a lateral ventricle [Automatically generated definition].	
MONDO:0020604	X-linked dominant disease	biolink:Disease	mondo	DOID:0080009			http://purl.obolibrary.org/obo/MONDO_0020604	X-linked dominant form of disease.	DOID:0080009
UBERON:0004271	outflow tract pericardium	biolink:AnatomicalEntity	mondo			pericardium of outflow tract	http://purl.obolibrary.org/obo/UBERON_0004271	A pericardium that is part of a outflow tract [Automatically generated definition].	
MONDO:0019625	familial thoracic aortic aneurysm and aortic dissection	biolink:Disease	mondo	UMLS:C0392775|Orphanet:229|SCTID:45894003|ICD10:Q87.4|ICD10:I71.0|GARD:0002249|UMLS:CN118826|OMIMPS:607086|ICD9:447.9|GARD:0001654|SCTID:764965000|Orphanet:91387	ordo_disease|gard_rare|prototype_pattern	Erdheim cystic medial necrosis of aorta|familial aortic aneurysm|FTAAD|cystic medial necrosis of aorta|Erdheim disease|familial thoracic aortic aneurysm and dissection|familial aortic dissection|familial thoracic aortic aneurysm|annuloaortic ectasia|familial TAAD	http://purl.obolibrary.org/obo/MONDO_0019625	Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.	SNOMEDCT:764965000|UMLS:C0392775|ORPHA:91387|SNOMEDCT:45894003|ORPHA:229|UMLS:CN118826
MONDO:0020603	X-linked chondrodysplasia punctata 2	biolink:Disease	mondo	DOID:0080352|Orphanet:35173|GARD:0006189		Conradi-Hunermann-Happle syndrome|Conrad Hunermann Happle syndrome|chondrodysplasia punctata 2 X-linked dominant|chondrodysplasia punctata 2, X-linked dominant|EBP chondrodysplasia punctata|Conradi-Hünermann-Happle syndrome|Conradi-Hunermann syndrome|Happle syndrome|chondrodysplasia punctata 2, X-linked dominant; CDPX2|CDPX2|X-linked chondrodysplasia punctata type 2|CDPXD|Conradi Hunermann syndrome|chondrodysplasia punctata caused by mutation in EBP	http://purl.obolibrary.org/obo/MONDO_0020603	X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.	UMLS:C0282102|DOID:0080352|ORPHA:35173
MONDO:0019624	acquired angioedema	biolink:Disease	mondo	UMLS:C2931758|ICD10:T78.3|MESH:C538173|Orphanet:91385|GARD:0008605	ordo_disease|gard_rare	acquired angioneurotic edema|acquired angioedema|angioedema, acquired|acquired bradykinine-induced angioedema|AAE|acquired C1 inhibitor deficiency|acquired non histamine-induced angioedema	http://purl.obolibrary.org/obo/MONDO_0019624	Acquired angioedema (AAE) is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency.	UMLS:C2931758|MESH:C538173|ORPHA:91385
MONDO:0020602	Simpson-Golabi-Behmel syndrome type 1	biolink:Disease	mondo	DOID:0060248|OMIM:312870		dysplasia gigantism syndrome, X-linked|GPC3 Simpson-Golabi-Behmel syndrome|Simpson-Golabi-Behmel syndrome caused by mutation in GPC3|Simpson-Golabi-Behmel syndrome type 1|Golabi-Rosen syndrome|Simpson-Golabi-Behmel syndrome, type 1; SGBS1|Simpson dysmorphia syndrome|bulldog syndrome|SGBS1|Simpson-Golabi-Behmel syndrome, type 1|Sgbs|DGSX Golabi-Rosen syndrome	http://purl.obolibrary.org/obo/MONDO_0020602	Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene.	http://identifiers.org/omim/312870|DOID:0060248
HP:0004349	Reduced bone mineral density	biolink:PhenotypicFeature	mondo	UMLS:C2674432		Low solidness and mass of the bones|Decreased bone mineral density Z score|Decreased bone mineral density	http://purl.obolibrary.org/obo/HP_0004349	A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.	
MONDO:0019627	isolated congenital alacrima	biolink:Disease	mondo	Orphanet:91416|SCTID:717262004|ICD10:Q10.6|UMLS:C4273963	ordo_disease	nonsyndromic congenital alacrima	http://purl.obolibrary.org/obo/MONDO_0019627	Congenital alacrima is characterised by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth.	SNOMEDCT:717262004|ORPHA:91416|UMLS:C4273963
MONDO:0020601	mosquito-borne viral encephalitis	biolink:Disease	mondo	NCIT:C34823		mosquito-borne viral encephalitis	http://purl.obolibrary.org/obo/MONDO_0020601	Viral encephalitis that is transmitted by mosquitos.	NCIT:C34823
MONDO:0020600	acute pharyngitis	biolink:Disease	mondo	NCIT:C34355|SCTID:363746003		acute pharyngitis|pharyngitis, acute	http://purl.obolibrary.org/obo/MONDO_0020600	An acute and painful inflammatory process that affects the pharynx. It is usually caused by viruses and less often bacteria. Signs and symptoms include discomfort on swallowing, low-grade fever, headache, and earache.	NCIT:C34355|SNOMEDCT:363746003
UBERON:0004270	lower leg connective tissue	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004270	A portion of connective tissue that is part of a lower leg [Automatically generated definition].	
HP:0004348	Abnormality of bone mineral density	biolink:PhenotypicFeature	mondo	UMLS:C4021657		Abnormality of bone mineralisation and ossification	http://purl.obolibrary.org/obo/HP_0004348	This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ.	
MONDO:0019626	isolated ankyloblepharon filiforme adnatum	biolink:Disease	mondo	ICD10:Q10.3|Orphanet:91397	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0019626	Isolated ankyloblepharon filiforme adnatum (AFA) is characterised by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors.	ORPHA:91397
MONDO:0019621	chronic pneumonitis of infancy	biolink:Disease	mondo	UMLS:CN206472|Orphanet:91359|ICD10:J84.0|UMLS:C3872848|SCTID:708026002	ordo_disease	CPI	http://purl.obolibrary.org/obo/MONDO_0019621	Chronic pneumonitis of infancy is a rare pediatric form of interstitial lung disease (ILD).	ORPHA:91359|SNOMEDCT:708026002|UMLS:CN206472|UMLS:C3872848
MONDO:0019620	congenital esophageal diverticulum	biolink:Disease	mondo	ICD9:750.4|Orphanet:91358|SCTID:204667006|ICD10:Q39.6	ordo_morphological_anomaly	congenital esophageal pouch	http://purl.obolibrary.org/obo/MONDO_0019620	Congenital esophageal diverticulum is a rare, non-syndromic malformation of the esophagus, present at birth, and characterized by a false diverticulum, most often located in the upper, posterior esophagus. Many patients are asymptomatic, but respiratory distress, food regurgitation, dysphagia, chest pain, aspiration pneumonia and discomfort are typical presenting manifestations.	ORPHA:91358|SNOMEDCT:204667006
MONDO:0019623	hereditary angioedema	biolink:Disease	mondo	MESH:D054179|GARD:0005979|Orphanet:91378|UMLS:CN239191|NCIT:C84758|UMLS:C0019243|DOID:14735|ICD10:D84.1|SCTID:82966003|MedDRA:10019860	ordo_disease	hereditary angioedema|hereditary bradykinine-induced angioedema|familial angioneurotic edema|deficiency of C1 esterase inhibitor|hereditary angioneurotic edema|HAE|HANE|angioedema, hereditary|hereditary non histamine-induced angioedema	http://purl.obolibrary.org/obo/MONDO_0019623	Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.	NCIT:C84758|UMLS:CN239191|ORPHA:91378|MESH:D054179|MEDDRA:10019860|SNOMEDCT:82966003|UMLS:C0019243|DOID:14735
MONDO:0019622	non-specific interstitial pneumonia	biolink:Disease	mondo	SCTID:129452008|NCIT:C35717|UMLS:C1290344|ICD10:J84.8|DOID:2801|ICD9:516.8|Orphanet:91364	ordo_disease	nonspecific interstitial pneumonia|non-specific idiopathic interstitial pneumonia|NSIP	http://purl.obolibrary.org/obo/MONDO_0019622	Idiopathic interstitial pneumonia characterized by chronic inflammation and fibrosis in the interstitial lung tissue. It includes cases that cannot be classified into one of the other types of idiopathic interstitial pneumonia.	UMLS:C1290344|ORPHA:91364|NCIT:C35717|SNOMEDCT:129452008|DOID:2801
MONDO:0020609	obsolete blood group, colton system	biolink:Disease	mondo	OMIM:110450		Colton Blood Group System|CO|BLOOD GROUP, COLTON SYSTEM; CO|Colton-Null Phenotype	http://purl.obolibrary.org/obo/MONDO_0020609		http://identifiers.org/omim/110450
HP:0004341	Abnormality of vitamin B12 metabolism	biolink:PhenotypicFeature	mondo	UMLS:C4021658		Abnormality of the vitamin B12 metabolism	http://purl.obolibrary.org/obo/HP_0004341		
UBERON:0004277	eye muscle	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004277	A muscle that is part of the eye region.	
HP:0004340	Abnormality of vitamin B metabolism	biolink:PhenotypicFeature	mondo	UMLS:C4021659		Abnormality of B-vitamin metabolism	http://purl.obolibrary.org/obo/HP_0004340		
MONDO:0020608	obsolete blood group--ahonen	biolink:Disease	mondo	OMIM:110350		BLOOD GROUP--AHONEN; AN	http://purl.obolibrary.org/obo/MONDO_0020608		http://identifiers.org/omim/110350
NCBITaxon:1643685	Borreliaceae	organism taxon	mondo	PMID:23908650|GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_1643685		
GO:0007632	visual behavior	biolink:OntologyClass	mondo			behavioral response to visual stimulus|visual behaviour|behavioural response to visual stimulus	http://purl.obolibrary.org/obo/GO_0007632	The behavior of an organism in response to a visual stimulus.	
GO:0007631	feeding behavior	biolink:OntologyClass	mondo			feeding from xylem of other organism|feeding from plant phloem|behavioral response to food|injection of substance into other organism during feeding on blood of other organism|feeding on blood of other organism|feeding on or from other organism|feeding from vascular tissue of another organism|hematophagy|feeding behaviour|feeding from tissue of other organism|eating|feeding from phloem of other organism|feeding on plant sap|behavioural response to food|taking of blood meal	http://purl.obolibrary.org/obo/GO_0007631	Behavior associated with the intake of food.	
NCBITaxon:1643688	Leptospirales	organism taxon	mondo	PMID:23908650|GC_ID:11		Leptospiriales	http://purl.obolibrary.org/obo/NCBITaxon_1643688		
UBERON:0006846	surface groove	biolink:AnatomicalEntity	mondo			groove	http://purl.obolibrary.org/obo/UBERON_0006846	A furrow or an incomplete tube.	
UBERON:0006843	root of cranial nerve	biolink:AnatomicalEntity	mondo			cranial nerve root|cranial neural root	http://purl.obolibrary.org/obo/UBERON_0006843	The initial segment of a cranial nerve, leaving the central nervous system.	
CHEBI:33484	chalcogen oxoacid	biolink:ChemicalSubstance	mondo			chalcogen oxoacids|chalcogen oxoacid	http://purl.obolibrary.org/obo/CHEBI_33484		
CHEBI:33485	chalcogen oxoanion	biolink:ChemicalSubstance	mondo			chalcogen oxoanion|chalcogen oxoanions	http://purl.obolibrary.org/obo/CHEBI_33485		
GO:0019627	urea metabolic process	biolink:OntologyClass	mondo			urea metabolism	http://purl.obolibrary.org/obo/GO_0019627	The chemical reactions and pathways involving urea, the water soluble compound O=C-(NH2)2.	
HGNC:2600	CYP21A2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2600		
UBERON:0006833	lumen of trachea	biolink:AnatomicalEntity	mondo			lumen of cartilaginous trachea|tracheal lumen	http://purl.obolibrary.org/obo/UBERON_0006833	An anatomical space that surrounded_by a trachea.	
CHEBI:33482	sulfur oxoanion	biolink:ChemicalSubstance	mondo			sulfur oxoanions|sulfur oxoanion|oxoanions of sulfur	http://purl.obolibrary.org/obo/CHEBI_33482		
GO:0007618	mating	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0007618	The pairwise union of individuals for the purpose of sexual reproduction, ultimately resulting in the formation of zygotes.	
GO:0007617	mating behavior	biolink:OntologyClass	mondo			mating behaviour	http://purl.obolibrary.org/obo/GO_0007617	The behavioral interactions between organisms for the purpose of mating, or sexual reproduction resulting in the formation of zygotes.	
HGNC:2606	CYP27B1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2606		
HGNC:2605	CYP27A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2605		
GO:0007613	memory	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0007613	The activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. The main stages involved in the formation and retrieval of memory are encoding (processing of received information by acquisition), storage (building a permanent record of received information as a result of consolidation) and retrieval (calling back the stored information and use it in a suitable way to execute a given task).	
GO:0007611	learning or memory	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0007611	The acquisition and processing of information and/or the storage and retrieval of this information over time.	
UBERON:0006815	areolar connective tissue	biolink:AnatomicalEntity	mondo			loose areolar connective tissue|loose connective tissue|areolar tissue	http://purl.obolibrary.org/obo/UBERON_0006815	Loose connective tissue located at the outer and inner layers of organs. Examples: submucosal connective tissue, tunica adventitia of artery, papillary dermis, superficial fascia of dorsum of hand.	
HGNC:2602	CYP24A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2602		
GO:0007610	behavior	biolink:OntologyClass	mondo			behaviour|behavioural response to stimulus|single-organism behavior|behavioral response to stimulus	http://purl.obolibrary.org/obo/GO_0007610	The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity.	
CHEBI:33459	pnictogen oxoanion	biolink:ChemicalSubstance	mondo			pnictogen oxoanion|pnictogen oxoanions	http://purl.obolibrary.org/obo/CHEBI_33459		
CHEBI:33452	benzylic group	biolink:ChemicalSubstance	mondo			benzylic groups|benzylic groups|groupe benzylique|benzylic group	http://purl.obolibrary.org/obo/CHEBI_33452	Arylmethyl groups and derivatives formed by substitution: ArCR2-.	
NCBITaxon:127916	Ichthyosporea	organism taxon	mondo	PMID:10449446|PMID:12142489|GC_ID:1|PMID:8876236		Mesomycetozoa|DRIP clade|Mesomycetozoea	http://purl.obolibrary.org/obo/NCBITaxon_127916		
CHEBI:33457	phosphorus oxoacid	biolink:ChemicalSubstance	mondo			oxoacids of phosphorus|phosphorus oxoacid|phosphorus oxoacids|Oxosaeure des Phosphors	http://purl.obolibrary.org/obo/CHEBI_33457	A pnictogen oxoacid which contains phosphorus and oxygen, at least one hydrogen atom bound to oxygen, and forms an ion by the loss of one or more protons.	
HGNC:2610	CYP2A6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2610		
UBERON:0006822	proximal epiphysis of ulna	biolink:AnatomicalEntity	mondo			head of ulna|upper end of ulna|caput ulnae|proximal end of ulna|caput ulnae	http://purl.obolibrary.org/obo/UBERON_0006822	The head of ulna presents an articular surface, part of which, of an oval or semilunar form, is directed downward, and articulates with the upper surface of the triangular articular disk which separates it from the wrist-joint; the remaining portion, directed lateralward, is narrow, convex, and received into the ulnar notch of the radius.	
NCBITaxon:6029	Microsporidia	organism taxon	mondo	PMID:28808018|PMID:10563021|PMID:9892676|PMID:12684019|PMID:17051209|GC_ID:1|PMID:12142484		Microspora|microsporidians|microsporidians|Microsporida|Microsporea	http://purl.obolibrary.org/obo/NCBITaxon_6029		
UBERON:0006807	ectepicondyle of humerus	biolink:AnatomicalEntity	mondo			epicondylus lateralis (humerus)|epicondylus lateralis humeri|dorsal epicondyle of the humerus|dorsal epicondyle of humerus|lateral epicondyle of humerus|lateral epicondyle|ectepicondyle|e. lateralis humeri	http://purl.obolibrary.org/obo/UBERON_0006807	A bony projection on the distal epiphysis of the humerus that is the attachment site for the extensor muscles of the distal parts of the forelimb. In humans, this is known as the lateral epicondyle, but the position varies across tetrapods.	
HGNC:2615	CYP2B6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2615		
GO:0007623	circadian rhythm	biolink:OntologyClass	mondo			response to circadian rhythm|circadian process|circadian response	http://purl.obolibrary.org/obo/GO_0007623	Any biological process in an organism that recurs with a regularity of approximately 24 hours.	
GO:0007622	rhythmic behavior	biolink:OntologyClass	mondo			rhythmic behavioural response to stimulus|rhythmic behavioral response to stimulus|rhythmic behaviour	http://purl.obolibrary.org/obo/GO_0007622	The specific behavior of an organism that recur with measured regularity.	
GO:0007620	copulation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0007620	The act of sexual union between male and female, involving the transfer of sperm.	
CHEBI:33465	elemental pnictogen	biolink:ChemicalSubstance	mondo			elemental pnictogen|elemental pnictogens	http://purl.obolibrary.org/obo/CHEBI_33465		
HGNC:2623	CYP2C9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2623		
UBERON:0006813	nasal skeleton	biolink:AnatomicalEntity	mondo			skeleton of nose	http://purl.obolibrary.org/obo/UBERON_0006813	Structural framework that provides support to the nasal sacs and ducts.	
HGNC:2621	CYP2C19	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2621		
NCBITaxon:6035	Encephalitozoon cuniculi	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6035		
UBERON:0006810	olecranon	biolink:AnatomicalEntity	mondo			olecranon process of ulna|ulnar process|olecranon process	http://purl.obolibrary.org/obo/UBERON_0006810	The olecranon is a large, thick, curved bony eminence of the forearm that projects behind the elbow. It is situated at the upper (proximal) end of the ulna, one of the two bones in the forearm. When the hand faces forward the olecranon faces towards the back (posteriorly). It is bent forward at the summit so as to present a prominent lip which is received into the olecranon fossa of the humerus in extension of the forearm. Its base is contracted where it joins the body and the narrowest part of the upper end of the ulna. Its posterior surface, directed backward, is triangular, smooth, subcutaneous, and covered by a bursa. Its superior surface is of quadrilateral form, marked behind by a rough impression for the insertion of the Triceps brachii; and in front, near the margin, by a slight transverse groove for the attachment of part of the posterior ligament of the elbow-joint. Its anterior surface is smooth, concave, and forms the upper part of the semilunar notch. Its borders present continuations of the groove on the margin of the superior surface; they serve for the attachment of ligaments, viz. , the back part of the ulnar collateral ligament medially, and the posterior ligament laterally. From the medial border a part of the Flexor carpi ulnaris arises; while to the lateral border the anconeus muscle is attached.	
NCBITaxon:6032	Apansporoblastina	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6032		
NCBITaxon:6033	Encephalitozoon	organism taxon	mondo	GC_ID:1		Septata	http://purl.obolibrary.org/obo/NCBITaxon_6033		
CHEBI:33461	phosphorus oxoanion	biolink:ChemicalSubstance	mondo			oxoanions of phosphorus|phosphorus oxoanion|phosphorus oxoanions	http://purl.obolibrary.org/obo/CHEBI_33461		
RO:0002093	ends_during	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002093		
UBERON:0004219	urethra smooth muscle layer	biolink:AnatomicalEntity	mondo			muscular layer of urethra|smooth muscle tissue of urethra|muscle layer of urethra|urethral smooth muscle|smooth muscle of urethra|tunica muscularis urethrae|urethra smooth muscle tissue|muscular coat of urethra	http://purl.obolibrary.org/obo/UBERON_0004219	A portion of smooth muscle tissue that is part of a urethra [Automatically generated definition].	
HGNC:2625	CYP2D6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2625		
RO:0002090	immediately precedes	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002090		
UBERON:0004220	large intestine smooth muscle	biolink:AnatomicalEntity	mondo			large intestine non-striated muscle|smooth muscle tissue of large intestine|smooth muscle of large intestine|involuntary muscle of large intestine|non-striated muscle of large intestine|large intestine involuntary muscle|large intestine smooth muscle tissue	http://purl.obolibrary.org/obo/UBERON_0004220	A portion of smooth muscle tissue that is part of a large intestine [Automatically generated definition].	
UBERON:0004221	intestine smooth muscle	biolink:AnatomicalEntity	mondo			involuntary muscle of intestine|non-striated muscle of intestine|intestine smooth muscle tissue|bowel non-striated muscle|smooth muscle tissue of bowel|smooth muscle of bowel|intestinal smooth muscle|bowel involuntary muscle|bowel smooth muscle|involuntary muscle of bowel|bowel smooth muscle tissue|non-striated muscle of bowel|intestine non-striated muscle|smooth muscle tissue of intestine|intestinal muscularis|intestine involuntary muscle|smooth muscle of intestine	http://purl.obolibrary.org/obo/UBERON_0004221	A portion of smooth muscle tissue that is part of a intestine [Automatically generated definition].	
CHEBI:33431	elemental chlorine	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_33431		
CHEBI:33432	monoatomic chlorine	biolink:ChemicalSubstance	mondo			atomic chlorine	http://purl.obolibrary.org/obo/CHEBI_33432		
CHEBI:33433	monoatomic halogen	biolink:ChemicalSubstance	mondo			monoatomic halogens	http://purl.obolibrary.org/obo/CHEBI_33433		
CHEBI:33434	elemental halogen	biolink:ChemicalSubstance	mondo			elemental halogen|elemental halogens	http://purl.obolibrary.org/obo/CHEBI_33434		
UBERON:0004228	urinary bladder smooth muscle	biolink:AnatomicalEntity	mondo			smooth muscle tissue of urinary bladder|smooth muscle of urinary bladder|bladder smooth muscle tissue|urinary bladder involuntary muscle|involuntary muscle of urinary bladder|bladder non-striated muscle|non-striated muscle of urinary bladder|smooth muscle tissue of bladder|urinary bladder smooth muscle tissue|smooth muscle of bladder|bladder smooth muscle|urinary bladder muscle|involuntary muscle of bladder|non-striated muscle of bladder|bladder involuntary muscle|smooth muscle layer of bladder|urinary bladder non-striated muscle	http://purl.obolibrary.org/obo/UBERON_0004228	A portion of smooth muscle tissue that is part of a urinary bladder [Automatically generated definition].	
UBERON:0004229	urinary bladder trigone smooth muscle	biolink:AnatomicalEntity	mondo			trigone of urinary bladder involuntary muscle|vesical trigone smooth muscle tissue|non-striated muscle of Lieutaud's trigone|trigone of urinary bladder non-striated muscle|urinary bladder trigone smooth muscle tissue|involuntary muscle of Lieutaud's trigone|deep trigone non-striated muscle|urinary bladder trigone muscle|smooth muscle of trigone of bladder|smooth muscle tissue of trigone of bladder|deep trigone smooth muscle tissue|smooth muscle of Lieutaud's trigone|urinary bladder trigone non-striated muscle|trigone of urinary bladder smooth muscle tissue|vesical trigone non-striated muscle|smooth muscle tissue of Lieutaud's trigone|trigone of urinary bladder smooth muscle|deep trigone smooth muscle|smooth muscle tissue of urinary bladder trigone|trigone of bladder non-striated muscle|smooth muscle of urinary bladder trigone|smooth muscle tissue of vesical trigone|smooth muscle of vesical trigone|non-striated muscle of trigone of urinary bladder|Lieutaud's trigone involuntary muscle|Lieutaud's trigone non-striated muscle|involuntary muscle of trigone of urinary bladder|non-striated muscle of deep trigone|vesical trigone smooth muscle|trigone of bladder involuntary muscle|involuntary muscle of deep trigone|involuntary muscle of urinary bladder trigone|non-striated muscle of urinary bladder trigone|trigone of bladder smooth muscle|involuntary muscle of vesical trigone|non-striated muscle of vesical trigone|Lieutaud's trigone smooth muscle tissue|smooth muscle of trigone of urinary bladder|vesical trigone involuntary muscle|smooth muscle of deep trigone|smooth muscle tissue of trigone of urinary bladder|urinary bladder trigone involuntary muscle|Lieutaud's trigone smooth muscle|non-striated muscle of trigone of bladder|smooth muscle tissue of deep trigone|trigone of bladder smooth muscle tissue|involuntary muscle of trigone of bladder|deep trigone involuntary muscle	http://purl.obolibrary.org/obo/UBERON_0004229	A portion of smooth muscle tissue that is part of a trigone of urinary bladder [Automatically generated definition].	
UBERON:0004226	gastrointestinal system smooth muscle	biolink:AnatomicalEntity	mondo			smooth muscle tissue of gastrointestinal system	http://purl.obolibrary.org/obo/UBERON_0004226	A portion of smooth muscle tissue that is part of a digestive system [Automatically generated definition].	
UBERON:0004227	kidney pelvis smooth muscle	biolink:AnatomicalEntity	mondo			smooth muscle tissue of renal pelvis|pelvic smooth muscle|renal pelvis smooth muscle|kidney pelvis smooth muscle	http://purl.obolibrary.org/obo/UBERON_0004227	the smooth muscle tissue surrounding the urothelium of the kidney pelvis	
UBERON:0004224	muscular coat of vas deferens	biolink:AnatomicalEntity	mondo			muscle layer of ductus deferens|muscle layer of vas deferens|tunica muscularis (ductus deferens)|tunica muscularis ductus deferentis|muscularis of vas deferens|muscular coat of ductus deferens|muscle layer of deferent duct|muscular layer of ductus deferens	http://purl.obolibrary.org/obo/UBERON_0004224	A muscular coat that is part of a vas deferens [Automatically generated definition].	
UBERON:0004225	respiratory system smooth muscle	biolink:AnatomicalEntity	mondo			respiratory smooth muscle|airway smooth muscle cell|airway smooth muscle|smooth muscle of respiratory system	http://purl.obolibrary.org/obo/UBERON_0004225	A portion of smooth muscle tissue that is part of a respiratory system [Automatically generated definition].	
UBERON:0004222	stomach smooth muscle	biolink:AnatomicalEntity	mondo			smooth muscle tissue of stomach|non-striated muscle of ventriculus|smooth muscle of stomach|stomach smooth muscle tissue|gastric muscle|ventriculus involuntary muscle|involuntary muscle of stomach|non-striated muscle of stomach|ventriculus smooth muscle tissue|stomach muscle|ventriculus non-striated muscle|smooth muscle tissue of ventriculus|smooth muscle of ventriculus|gastric smooth muscle|stomach involuntary muscle|ventriculus smooth muscle|stomach non-striated muscle|involuntary muscle of ventriculus	http://purl.obolibrary.org/obo/UBERON_0004222	A portion of smooth muscle tissue that is part of a stomach [Automatically generated definition].	
UBERON:0004223	vagina smooth muscle	biolink:AnatomicalEntity	mondo			smooth muscle of vagina|smooth muscle tissue of vagina|vagina non-striated muscle|vagina involuntary muscle|vagina smooth muscle tissue|non-striated muscle of vagina|vagina smooth muscle|vaginal smooth muscle|involuntary muscle of vagina	http://purl.obolibrary.org/obo/UBERON_0004223	A portion of smooth muscle tissue that is part of a vagina [Automatically generated definition].	
NCBITaxon:54281	Chrysomyini	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_54281		
GO:0007605	sensory perception of sound	biolink:OntologyClass	mondo			perception of sound|hearing	http://purl.obolibrary.org/obo/GO_0007605	The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound.	
HGNC:2638	CYP3A5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2638		
NCBITaxon:54285	Oestrinae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_54285		
UBERON:0004208	nephrogenic mesenchyme	biolink:AnatomicalEntity	mondo			mesenchyme of nephron|nephron mesenchyme	http://purl.obolibrary.org/obo/UBERON_0004208	Nephrogenic mesenchyme is the tissue made up of loosely connected mesenchymal cells in the nephron	
GO:0007601	visual perception	biolink:OntologyClass	mondo			vision|sense of sight|sensory visual perception	http://purl.obolibrary.org/obo/GO_0007601	The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image.	
GO:0007600	sensory perception	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0007600	The series of events required for an organism to receive a sensory stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process.	
UBERON:0004209	renal vesicle	biolink:AnatomicalEntity	mondo			stage I nephron	http://purl.obolibrary.org/obo/UBERON_0004209	The renal vesicle is the primordial structure of the nephron epithelium, and is formed by the condensation of mesenchymal cells.	
RO:0002084	during which ends	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002084		
RO:0002086	ends after	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002086		
RO:0002087	immediately preceded by	biolink:OntologyClass	mondo			is directly preceded by|is immediately preceded by|directly preceded by|starts_at_end_of	http://purl.obolibrary.org/obo/RO_0002087	X immediately_preceded_by Y iff: end(X) simultaneous_with start(Y)	
UBERON:0006872	handplate apical ectodermal ridge	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006872	An apical ectodermal ridge that is part of a handplate.	
UBERON:0006871	embryonic footplate	biolink:AnatomicalEntity	mondo			foot disk|footplate|foot plate|distal part of hindlimb bud	http://purl.obolibrary.org/obo/UBERON_0006871	the distal elements of the developing limb of vertebrates that will give rise to the pes (foot)	
UBERON:0004217	upper arm nerve	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004217	A nerve that is part of a forelimb stylopod [Automatically generated definition].	
UBERON:0004218	lower leg nerve	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004218	A nerve that is part of a lower leg [Automatically generated definition].	
UBERON:0004215	back nerve	biolink:AnatomicalEntity	mondo			nerve of back	http://purl.obolibrary.org/obo/UBERON_0004215	A nerve that is part of a back [Automatically generated definition].	
UBERON:0006877	vasculature of liver	biolink:AnatomicalEntity	mondo			liver vascular system|hepatic vascular element|liver vascular element|hepatic vasculature	http://purl.obolibrary.org/obo/UBERON_0006877	A vasculature that is part of a liver.	
UBERON:0004216	lower arm nerve	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004216	A nerve that is part of a lower arm [Automatically generated definition].	
UBERON:0006876	vasculature of organ	biolink:AnatomicalEntity	mondo			set of blood vessels of organ|organ vasculature	http://purl.obolibrary.org/obo/UBERON_0006876	A vasculature that is part of a organ.	
UBERON:0004214	upper leg nerve	biolink:AnatomicalEntity	mondo			lower extremity stylopod nerve|hindlimb stylopod nerve|hind limb stylopod nerve|thigh RELATED	http://purl.obolibrary.org/obo/UBERON_0004214	A nerve that is part of a hindlimb stylopod [Automatically generated definition].	
UBERON:0006875	embryonic handplate	biolink:AnatomicalEntity	mondo			handplate|hand plate|distal part of forelimb bud	http://purl.obolibrary.org/obo/UBERON_0006875	the distal elements of the developing limb of vertebrates that will give rise to the manus (hand)	
UBERON:0004211	nephron epithelium	biolink:AnatomicalEntity	mondo			nephron epithelial tissue|epithelium of nephron|epithelial tissue of nephron	http://purl.obolibrary.org/obo/UBERON_0004211	The nephron epithelium is a tissue that covers the surface of a nephron	
UBERON:0004212	glomerular capillary	biolink:AnatomicalEntity	mondo			capillary vessel of renal glomerulus|renal glomerulus blood capillary|capillary of renal glomerulus|renal glomerulus capillary vessel|blood capillary of renal glomerulus|glomerular capillaries|glomerular capillary system|renal glomerulus capillary	http://purl.obolibrary.org/obo/UBERON_0004212	the small branching blood vessels in the kidney glomerulus that receives blood from the kidney afferent arterioles; these capillaries are under high pressure for filtering within the glomerulus	
NCBITaxon:54292	Apodemus flavicollis	organism taxon	mondo	GC_ID:1		Sylvaemus flavicollis|Yellow-necked field mouse	http://purl.obolibrary.org/obo/NCBITaxon_54292		
HGNC:2649	CYP51A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2649		
HP:0006919	Abnormal aggressive, impulsive or violent behavior	biolink:PhenotypicFeature	mondo	UMLS:C4024963		Abnormal aggressive, impulsive or violent behaviour|Aggressive/violent behavior	http://purl.obolibrary.org/obo/HP_0006919		
UBERON:0006861	diaphysis proper	biolink:AnatomicalEntity	mondo			long bone diaphysis|shaft proper of long bone|body proper of long bone	http://purl.obolibrary.org/obo/UBERON_0006861	Subdivision of long bone which forms the part of the bone between two metaphyses. Note that the diaphysis includes the metaphyses, but the diaphysis proper excludes these.	
UBERON:0006868	seminal fluid secreting gland	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006868	A gland that secretes a seminal fluid.	
UBERON:0004204	outer medullary collecting duct	biolink:AnatomicalEntity	mondo			kidney outer medulla collecting duct|outer renal medulla collecting duct	http://purl.obolibrary.org/obo/UBERON_0004204	The outer medullary collecting duct is the portion of the collecting duct that lies in the renal outer medulla	
UBERON:0004205	inner medullary collecting duct	biolink:AnatomicalEntity	mondo			inner renal medulla collecting duct|kidney inner medulla collecting duct|papillary collecting duct	http://purl.obolibrary.org/obo/UBERON_0004205	The inner medullary collecting duct is the portion of the collecting duct that lies in the renal inner medulla	
UBERON:0006866	terminal part of digestive tract	biolink:AnatomicalEntity	mondo			terminal section of digestive tract|rectal part of digestive tract|rectum	http://purl.obolibrary.org/obo/UBERON_0006866	The distalmost portion of the digestive tract, derived from the hindgut, and terminating with the anus.	
UBERON:0006865	metaphysis of femur	biolink:AnatomicalEntity	mondo			femoral metaphysis	http://purl.obolibrary.org/obo/UBERON_0006865	A metaphysis that is part of a femur.	
UBERON:0004202	kidney outer medulla outer stripe	biolink:AnatomicalEntity	mondo			outer medulla outer stripe|outer stripe of outer medulla|stria externa medullae renalis|outer stripe of renal medulla|outer stripe of medulla of kidney|outer stripe	http://purl.obolibrary.org/obo/UBERON_0004202	The outer stripe is the region of the kidney that lies distal to the line of termination of the straight renal tubules	
HGNC:2652	CYP7B1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2652		
UBERON:0004203	cortical collecting duct	biolink:AnatomicalEntity	mondo			renal cortex collecting duct|kidney cortex collecting duct	http://purl.obolibrary.org/obo/UBERON_0004203	The cortical collecting duct is the portion of the collecting duct that resides in the renal cortex	
UBERON:0006864	distal metaphysis of femur	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006864	A distal metaphysis that is part of a femur.	
UBERON:0004200	kidney pyramid	biolink:AnatomicalEntity	mondo			pyramid of Malphigi|Malpighian pyramid|pyramides renales|pyramid of Malpighi|medullary pyramid|renal medullary region|pyramis renalis|renal pyramid|pyramid|Malpighian pyramid|Malphigian pyramid	http://purl.obolibrary.org/obo/UBERON_0004200	Kidney pyramids are the conical arrangements of tubules that constitute the renal medulla in a multi-lobed mammalian kidney; they contain the loops of Henle and the medullary collecting ducts.	
UBERON:0006863	proximal metaphysis of femur	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006863	A proximal metaphysis that is part of a femur.	
UBERON:0006862	diaphysis of femur	biolink:AnatomicalEntity	mondo			shaft of femur|femoral shaft|femoral diaphysis|corpus femoris|body of femur	http://purl.obolibrary.org/obo/UBERON_0006862	A diaphysis that is part of a femur[Automatically generated definition].	
UBERON:0006849	scapula	biolink:AnatomicalEntity	mondo			scapula bone|hypercoracocïdeum@fr|scapulas|scapula@fr|shoulder blade|hypercoracocïde@fr|scapulae	http://purl.obolibrary.org/obo/UBERON_0006849	Endochondral bone that is dorsoventrally compressed and provides attachment site for muscles of the pectoral appendage.	
CHEBI:33429	monoatomic monoanion	biolink:ChemicalSubstance	mondo			monoatomic monoanions	http://purl.obolibrary.org/obo/CHEBI_33429		
NCBITaxon:6072	Eumetazoa	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6072		
CHEBI:33424	sulfur oxoacid derivative	biolink:ChemicalSubstance	mondo			sulfur oxoacid derivative|sulfur oxoacid derivatives	http://purl.obolibrary.org/obo/CHEBI_33424		
UBERON:0006858	adrenal/interrenal gland	biolink:AnatomicalEntity	mondo			adrenal gland/interrenal tissue|suprarenal gland - interrenal gland|adrenal gland - interrenal gland|adrenal - interrenal gland	http://purl.obolibrary.org/obo/UBERON_0006858	This gland can either be a discrete structure located bilaterally above each kidney, or a cluster of cells in the head kidney that perform the functions of the adrenal gland. In either case, this organ consists of two cells types, aminergic chromaffin cells and steroidogenic cortical cells[GO]	
HGNC:2666	DAG1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2666		
HGNC:2665	CD55	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2665		
UBERON:0006855	muscular coat of ureter	biolink:AnatomicalEntity	mondo			muscular coat of ureter|muscularis of ureter|tunica muscularis (ureter)|ureteral smooth muscle layer|tunica muscularis ureteris|muscular layer of ureter	http://purl.obolibrary.org/obo/UBERON_0006855	A muscular coat that is part of a ureter.	
UBERON:0006853	renal cortex tubule	biolink:AnatomicalEntity	mondo			kidney cortex tubule|cortical tubule	http://purl.obolibrary.org/obo/UBERON_0006853	A region of nephron tubule that is part of a cortex of kidney.	
HGNC:2661	DAB1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2661		
FOODON:03411215	obsolete: algae, bacteria or fungus	biolink:OntologyClass	mondo	http://www.langual.org/langual_thesaurus.asp?termid=B1215			http://purl.obolibrary.org/obo/FOODON_03411215		
RO:0002170	connected to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002170	a is connected to b if and only if a and b are discrete structure, and there exists some connecting structure c, such that c connects a and b	
FOODON:03411213	nut producing plant	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03411213		
RO:0002176	connects	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002176	c connects a if and only if there exist some b such that a and b are similar parts of the same system, and c connects b, specifically, c connects a with b. When one structure connects two others it unites some aspect of the function or role they play within the system.	
PATO:0002304	increased process quality	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0002304	A quality of a process that has a value that is increased compared to normal or average.	
GO:0005179	hormone activity	biolink:OntologyClass	mondo			lipopeptide hormone|peptide hormone|glycopeptide hormone|cAMP generating peptide activity	http://purl.obolibrary.org/obo/GO_0005179	The action characteristic of a hormone, any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. The term was originally applied to agents with a stimulatory physiological action in vertebrate animals (as opposed to a chalone, which has a depressant action). Usage is now extended to regulatory compounds in lower animals and plants, and to synthetic substances having comparable effects; all bind receptors and trigger some biological process.	
RO:0002177	attaches_to_part_of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002177	a is attached to part of b if a is attached to b, or a is attached to some p, where p is part of b.	
PATO:0002305	increased object quality	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0002305	A quality of an object that has a value that is increased compared to normal or average.	
RO:0002178	supplies	biolink:OntologyClass	mondo			arterial supply of	http://purl.obolibrary.org/obo/RO_0002178	Relation between an arterial structure and another structure, where the arterial structure acts as a conduit channeling fluid, substance or energy.	
PATO:0002302	decreased process quality	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0002302	A quality of a process that has a value that is decreased compared to normal or average.	
RO:0002179	drains	biolink:OntologyClass	mondo			drains from|drains blood from	http://purl.obolibrary.org/obo/RO_0002179	Relation between an collecting structure and another structure, where the collecting structure acts as a conduit channeling fluid, substance or energy away from the other structure.	
PATO:0002303	decreased object quality	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0002303	A quality of an object that has a value that is decreased compared to normal or average.	
GO:0044782	cilium organization	biolink:OntologyClass	mondo			microtubule-based flagellum organization	http://purl.obolibrary.org/obo/GO_0044782	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole.	
PATO:0002300	increased quality	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0002300	A quality that has a value that is increased compared to normal or average.	
GO:0042127	regulation of cell population proliferation	biolink:OntologyClass	mondo			regulation of cell proliferation	http://purl.obolibrary.org/obo/GO_0042127	Any process that modulates the frequency, rate or extent of cell proliferation.	
PATO:0002301	decreased quality	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0002301	A quality that has a value that is decreased compared to normal or average.	
GO:0017171	serine hydrolase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0017171	Catalysis of the hydrolysis of a substrate by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine).	
RO:0002160	only in taxon	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002160	x only in taxon y if and only if x is in taxon y, and there is no other organism z such that y!=z a and x is in taxon z.	
FOODON:03411222	fish	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03411222	Fish are the gill-bearing aquatic craniate animals that lack limbs with digits. Most fish are ectothermic ("cold-blooded"), allowing their body temperatures to vary as ambient temperatures change, though some of the large active swimmers like white shark and tuna can hold a higher core temperature.	
GO:0032787	monocarboxylic acid metabolic process	biolink:OntologyClass	mondo			monocarboxylate metabolic process|monocarboxylic acid metabolism	http://purl.obolibrary.org/obo/GO_0032787	The chemical reactions and pathways involving monocarboxylic acids, any organic acid containing one carboxyl (COOH) group or anion (COO-).	
GO:0042133	neurotransmitter metabolic process	biolink:OntologyClass	mondo			neurotransmitter metabolism	http://purl.obolibrary.org/obo/GO_0042133	The chemical reactions and pathways involving neurotransmitters, any of a group of substances that are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell.	
GO:0042135	neurotransmitter catabolic process	biolink:OntologyClass	mondo			neurotransmitter breakdown|neurotransmitter degradation|neurotransmitter catabolism	http://purl.obolibrary.org/obo/GO_0042135	The chemical reactions and pathways resulting in the breakdown of any of a group of substances that are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell.	
RO:0002161	never in taxon	biolink:OntologyClass	mondo	RO:0002161			http://purl.obolibrary.org/obo/RO_0002161		
RO:0002162	in taxon	biolink:OntologyClass	mondo	RO:0002162			http://purl.obolibrary.org/obo/RO_0002162	x is in taxon y if an only if y is an organism, and the relationship between x and y is one of: part of (reflexive), developmentally preceded by, derives from, secreted by, expressed.	
RO:0002163	spatially disjoint from	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002163	A is spatially_disjoint_from B if and only if they have no parts in common	
GO:0005183	gonadotropin hormone-releasing hormone activity	biolink:OntologyClass	mondo			LH/FSH-RF|gonadotrophin hormone-releasing hormone activity|luteinizing hormone/follicle-stimulating hormone releasing factor activity|GnRH activity|luteinizing hormone-releasing hormone activity|luteinizing hormone-releasing factor activity|LHRH activity	http://purl.obolibrary.org/obo/GO_0005183	The action characteristic of gonadotropin hormone-releasing hormone (GnRH), any of a family of decapeptide amide hormones that are released by the hypothalamus in response to neural and/or chemical stimuli. In at least mammals, upon receptor binding, GnRH causes the release of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) by the anterior pituitary.	
PATO:0002318	superelliptic	biolink:OntologyClass	mondo			Lamé curve	http://purl.obolibrary.org/obo/PATO_0002318	A shape constituting a transition between a rectangle and a circle; a closed curve, of which the circle and ellipse are special cases, whose parametric equation is x = a.cos2/rt, y = b.cos2/rt	
RO:0002158	shares ancestor with	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002158	two individual entities d1 and d2 stand in a shares_ancestor_with relation if and only if there exists some a such that d1 derived_by_descent_from a and d2 derived_by_descent_from a.	
UBERON:5102389	manual digit digitopodial skeleton	biolink:AnatomicalEntity	mondo			manual digit|manual digit skeleton	http://purl.obolibrary.org/obo/UBERON_5102389	A subdivision of the skeleton of the autopod consisting of the phalanges of manual digit plus the associated metapodial element.	
GO:0017168	5-oxoprolinase (ATP-hydrolyzing) activity	biolink:OntologyClass	mondo			5-oxo-L-proline amidohydrolase (ATP-hydrolysing)|pyroglutamase activity|pyroglutamase (ATP-hydrolysing)|5-oxo-L-prolinase activity|5-oxoprolinase activity|L-pyroglutamate hydrolase activity|pyroglutamate hydrolase activity|pyroglutamic hydrolase activity|pyroglutamase (ATP-hydrolyzing) activity|5-oxoprolinase (ATP-hydrolysing)|oxoprolinase activity|5-OPase activity	http://purl.obolibrary.org/obo/GO_0017168	Catalysis of the reaction: 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate.	
FOODON:03411237	shrimp	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03411237		
NCBITaxon:1511862	Carnivore amdoparvovirus 1	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1511862		
RO:0002156	derived by descent from	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002156	d derived_by_descent_from a if d is specified by some genetic program that is sequence-inherited-from a genetic program that specifies a.	
RO:0002157	has derived by descendant	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002157	inverse of derived by descent from	
RO:0002150	continuous_with	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002150	X continuous_with Y if and only if X and Y share a fiat boundary.	
GO:0032774	RNA biosynthetic process	biolink:OntologyClass	mondo			RNA synthesis|RNA biosynthesis|RNA formation|RNA anabolism	http://purl.obolibrary.org/obo/GO_0032774	The chemical reactions and pathways resulting in the formation of RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. Includes polymerization of ribonucleotide monomers. Refers not only to transcription but also to e.g. viral RNA replication.	
GO:0032770	positive regulation of monooxygenase activity	biolink:OntologyClass	mondo			up regulation of monooxygenase activity|stimulation of monooxygenase activity|up-regulation of monooxygenase activity|activation of monooxygenase activity|upregulation of monooxygenase activity	http://purl.obolibrary.org/obo/GO_0032770	Any process that activates or increases the activity of a monooxygenase.	
MONDO:0020492	hemimegalencephaly	biolink:Disease	mondo	ICD9:742.4|GARD:0002637|Orphanet:99802|UMLS:C0431391|MESH:D065705|SCTID:253170008|ICD10:Q04.5	gard_rare|ordo_malformation_syndrome	macrencephaly|unilateral megalencephaly	http://purl.obolibrary.org/obo/MONDO_0020492	Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis. Management includes seizure control by antiepileptic medications and early hemispherectomy.	UMLS:C0431391|MESH:D065705|SNOMEDCT:253170008|ORPHA:99802
MONDO:0020491	subcortical band heterotopia	biolink:Disease	mondo	Orphanet:99796|DOID:0111169|UMLS:C4284594|GARD:0002250|NCIT:C116933|UMLS:C1848201|ICD10:Q04.3|GARD:0001904	gard_rare|ordo_morphological_anomaly	band heterotopia|familial band heterotopia|double cortex syndrome|heterotopic cortex|Double cortex|HeCo|subcortical laminar heterotopia	http://purl.obolibrary.org/obo/MONDO_0020491	A developmental brain abnormality characterized by atypical migration of neurons during cortical development.	UMLS:C1848201|ORPHA:99796|UMLS:C4284594|DOID:0111169|NCIT:C116933
MONDO:0020490	mosaic trisomy 9	biolink:Disease	mondo	SCTID:764989007|ICD10:Q92.1|MESH:C535454|UMLS:CN035918|Orphanet:99776|GARD:0000043	gard_rare|ordo_malformation_syndrome	Mosaic trisomy type 9|trisomy 9 mosaicism|Mosaic trisomy chromosome 9	http://purl.obolibrary.org/obo/MONDO_0020490	Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body. In people affected by this condition, some of the body's cells have three copies of chromosome 9 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary but may include mild to severe intellectual disability, developmental delay, growth problems (both before and after birth), congenital heart defects, and/or abnormalities of the craniofacial (skull and face) region. Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. Treatment is based on the signs and symptoms present in each person.	SNOMEDCT:764989007|UMLS:CN035918|UMLS:C2930908|ORPHA:99776|MESH:C535454
GO:0032769	negative regulation of monooxygenase activity	biolink:OntologyClass	mondo			down regulation of monooxygenase activity|inhibition of monooxygenase activity|down-regulation of monooxygenase activity|downregulation of monooxygenase activity	http://purl.obolibrary.org/obo/GO_0032769	Any process that stops or reduces the activity of a monooxygenase.	
GO:0032768	regulation of monooxygenase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0032768	Any process that modulates the activity of a monooxygenase.	
GO:0030103	vasopressin secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0030103	The regulated release of vasopressin from secretory granules into the blood.	
MONDO:0020499	Nipah virus disease	biolink:Disease	mondo	UMLS:CN207389|ICD10:A98.8|DOID:0050192|Orphanet:99825	ordo_disease	Nipah virus infectious disease|Nipah fever|Nipah encephalitis	http://purl.obolibrary.org/obo/MONDO_0020499	Nipah virus disease, caused by the Nipah virus, is a recently discovered zoonotic disease characterized by fever, constitutional symptoms and encephalitis, sometimes accompanied by respiratory illness.	UMLS:CN207389|ORPHA:99825|DOID:0050192
GO:0042158	lipoprotein biosynthetic process	biolink:OntologyClass	mondo			lipoprotein biosynthesis|lipoprotein anabolism|lipoprotein synthesis|lipoprotein formation	http://purl.obolibrary.org/obo/GO_0042158	The chemical reactions and pathways resulting in the formation of any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids.	
MONDO:0020498	obsolete Lassa fever	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0020498		
MONDO:0020497	Turcot syndrome with polyposis	biolink:Disease	mondo	UMLS:CN207386|ICD10:D12.6|Orphanet:99818	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0020497	Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions.	ORPHA:99818|UMLS:CN207386
GO:0042157	lipoprotein metabolic process	biolink:OntologyClass	mondo			lipoprotein metabolism	http://purl.obolibrary.org/obo/GO_0042157	The chemical reactions and pathways involving any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids.	
MONDO:0020496	familial porencephaly	biolink:Disease	mondo	ICD10:Q04.6|GARD:0002258|Orphanet:99810	ordo_etiological_subtype|gard_rare	familial porencephalic white matter disease|hereditary porencephaly	http://purl.obolibrary.org/obo/MONDO_0020496	An instance of porencephaly that is caused by an inherited modification of the individual's genome.	UMLS:C1867983|ORPHA:99810|MESH:C536850
OBO:chebi#is_conjugate_acid_of	is conjugate acid of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/chebi#is_conjugate_acid_of		
MONDO:0020495	peho-like syndrome	biolink:Disease	mondo	OMIM:617507|Orphanet:99807	ordo_disease	PEHOL|peho-like syndrome; PEHOL|Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome	http://purl.obolibrary.org/obo/MONDO_0020495	PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.	http://identifiers.org/omim/617507|ORPHA:99807
MONDO:0020494	oculootodental syndrome	biolink:Disease	mondo	ICD10:K00.2|Orphanet:99806|UMLS:C2750325	ordo_malformation_syndrome	OOD	http://purl.obolibrary.org/obo/MONDO_0020494	Oculootodental syndrome is a contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.	UMLS:C2750325|ORPHA:99806
MONDO:0020493	Haddad syndrome	biolink:Disease	mondo	Orphanet:99803|ICD10:G47.3|SCTID:719972004	ordo_malformation_syndrome	ondine-Hirschsprung syndrome|ondine-Hirschsprung disease|congenital central alveolar hypoventilation-Hirschsprung disease syndrome	http://purl.obolibrary.org/obo/MONDO_0020493	Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease.	UMLS:C1859587|SNOMEDCT:719972004|MESH:C536209|ORPHA:99803
GO:0017148	negative regulation of translation	biolink:OntologyClass	mondo			downregulation of protein biosynthetic process|negative regulation of protein anabolism|down regulation of protein biosynthetic process|negative regulation of protein synthesis|inhibition of protein biosynthetic process|protein biosynthetic process inhibitor activity|negative regulation of protein biosynthesis|down-regulation of protein biosynthetic process|protein biosynthesis inhibitor activity|negative regulation of protein biosynthetic process|negative regulation of protein formation	http://purl.obolibrary.org/obo/GO_0017148	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA.	
GO:0017145	stem cell division	biolink:OntologyClass	mondo			stem cell renewal	http://purl.obolibrary.org/obo/GO_0017145	The self-renewing division of a stem cell. A stem cell is an undifferentiated cell, in the embryo or adult, that can undergo unlimited division and give rise to one or several different cell types.	
GO:0017144	drug metabolic process	biolink:OntologyClass	mondo			drug metabolism	http://purl.obolibrary.org/obo/GO_0017144	The chemical reactions and pathways involving a drug, a substance used in the diagnosis, treatment or prevention of a disease; as used here antibiotic substances (see antibiotic metabolism) are considered to be drugs, even if not used in medical or veterinary practice.	
GO:0030100	regulation of endocytosis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0030100	Any process that modulates the frequency, rate or extent of endocytosis.	
UBERON:0006919	tongue squamous epithelium	biolink:AnatomicalEntity	mondo			squamous epithelium of tongue	http://purl.obolibrary.org/obo/UBERON_0006919	A squamous epithelium that is part of a tongue.	
UBERON:0006916	non-keratinized epithelium of tongue	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006916	A non-keratinized stratified squamous epithelium that is part of a tongue.	
UBERON:0006915	stratified squamous epithelium	biolink:AnatomicalEntity	mondo			epithelium stratificatum squamosum	http://purl.obolibrary.org/obo/UBERON_0006915	Multilaminar epithelium which consists of more than one layer of squamous cells only one layer of which is in contact with a basement membrane. Examples: keratinized stratified squamous epithelium, epithelium of wall of esophagus.[FMA]	
UBERON:0006914	squamous epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006914	An epithelium characterised by its most superficial layer consisting of squamous epithelial cells.	
RO:0002134	innervates	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002134	Relation between a 'neuron projection bundle' and a region in which one or more of its component neuron projections either synapses to targets or receives synaptic input. T innervates some R Expands_to: T has_fasciculating_neuron_projection that synapse_in some R.	
GO:0042165	neurotransmitter binding	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0042165	Interacting selectively and non-covalently with a neurotransmitter, any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell.	
RO:0002131	overlaps	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002131	A overlaps B if they share some part in common.	
GO:0017119	Golgi transport complex	biolink:OntologyClass	mondo			Sec34/35 complex|conserved oligomeric Golgi complex|COG complex	http://purl.obolibrary.org/obo/GO_0017119	A  multisubunit tethering complex of the CATCHR family (complexes associated with tethering containing helical rods) that has a role in tethering vesicles to the Golgi prior to fusion. Composed of 8 subunits COG1-8.	
NCBITaxon:91061	Bacilli	organism taxon	mondo	GC_ID:11		Bacillus/Lactobacillus/Streptococcus group|Firmibacteria	http://purl.obolibrary.org/obo/NCBITaxon_91061		
UBERON:0006924	stomach glandular epithelium	biolink:AnatomicalEntity	mondo			epithelium of gastric gland|gastric gland epithelium	http://purl.obolibrary.org/obo/UBERON_0006924	A glandular epithelium that lines the stomach. The stomach's glandular epithelium is characterized by the presence of gastric glands.	
UBERON:0006923	vagina squamous epithelium	biolink:AnatomicalEntity	mondo			vaginal squamous epithelium	http://purl.obolibrary.org/obo/UBERON_0006923	A squamous epithelium that is part of a vagina.	
UBERON:0006922	cervix squamous epithelium	biolink:AnatomicalEntity	mondo			cervical squamous epithelium	http://purl.obolibrary.org/obo/UBERON_0006922	The squamous epithelium of the cervical portio is similar to that of the vagina, except that it is generally smooth and lacks rete pegs. Colposcopically, it appears featureless except for a fine network of vessels which is sometimes visible. The relative opacity and pale pink coloration of the squamous epithelium derives from its multi-layered histology and the location of its supporting vessels below the basement membrane.	
UBERON:0006921	stomach squamous epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006921	A squamous epithelium that is part of a stomach.	
UBERON:0006920	esophagus squamous epithelium	biolink:AnatomicalEntity	mondo			squamous oesophageal epithelium|squamous epithelium of esophagus|esophageal squamous epithelium	http://purl.obolibrary.org/obo/UBERON_0006920	A squamous epithelium that is part of a esophagus.	
UBERON:0006909	lumen of digestive tract	biolink:AnatomicalEntity	mondo			lumen of digestive tract|gut cavity|lumen of gut|lumen of alimentary tract|digestive tract lumen|gut lumen	http://purl.obolibrary.org/obo/UBERON_0006909	An anatomical space that surrounded_by a digestive tract.	
UBERON:0006905	mandibular process mesenchyme	biolink:AnatomicalEntity	mondo			mesenchyme of mandibular process|mesenchyme of mandibular prominence	http://purl.obolibrary.org/obo/UBERON_0006905	Mesenchyme that is part of a mandibular prominence.	
UBERON:0006904	head mesenchyme from mesoderm	biolink:AnatomicalEntity	mondo			head mesenchyme from mesoderm|head mesenchyme derived from mesoderm|head mesoderm|mesenchyme derived from head mesoderm|cranial mesoderm|mesenchyme from head mesoderm|head mesenchyme from head mesoderm	http://purl.obolibrary.org/obo/UBERON_0006904	A head mesenchyme that develops_from a mesoderm.	
RO:0002120	synapsed to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002120	 Relation between a neuron and an anatomical structure (including cells) that it chemically synapses to.         	
UBERON:0006913	lip epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006913	An epithelium that is part of a lip.	
MONDO:0032485	intellectual developmental disorder 61	biolink:Disease	mondo	OMIM:618009		Mental Retardation, Autosomal Dominant 61|INTELLECTUAL DEVELOPMENTAL DISORDER 61; MRD61	http://purl.obolibrary.org/obo/MONDO_0032485		http://identifiers.org/omim/618009
GO:0042181	ketone biosynthetic process	biolink:OntologyClass	mondo			ketone formation|ketone anabolism|ketone synthesis|ketone biosynthesis	http://purl.obolibrary.org/obo/GO_0042181	The chemical reactions and pathways resulting in the formation of ketones, a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups.	
GO:0042180	cellular ketone metabolic process	biolink:OntologyClass	mondo			ketone metabolism	http://purl.obolibrary.org/obo/GO_0042180	The chemical reactions and pathways involving any of a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms, as carried out by individual cells. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups.	
HGNC:20577	CYP26C1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20577		
RO:0002103	synapsed by	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002103	Relation between an anatomical structure (including cells) and a neuron that chemically synapses to it. 	
RO:0002104	has plasma membrane part	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002104	Holds between a cell c and a protein complex or protein p if and only if that cell has as part a plasma_membrane[GO:0005886], and that plasma membrane has p as part.	
GO:0019751	polyol metabolic process	biolink:OntologyClass	mondo			polyhydric alcohol metabolic process|polyol metabolism	http://purl.obolibrary.org/obo/GO_0019751	The chemical reactions and pathways involving a polyol, any alcohol containing three or more hydroxyl groups attached to saturated carbon atoms.	
GO:0019752	carboxylic acid metabolic process	biolink:OntologyClass	mondo			carboxylic acid metabolism	http://purl.obolibrary.org/obo/GO_0019752	The chemical reactions and pathways involving carboxylic acids, any organic acid containing one or more carboxyl (COOH) groups or anions (COO-).	
FOODON:03411201	dairy cow	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03411201	A dairy cow is an adult female member of a dairy cattle breed	
GO:0005125	cytokine activity	biolink:OntologyClass	mondo			autocrine activity|paracrine activity	http://purl.obolibrary.org/obo/GO_0005125	The activity of a soluble extracellular gene product that interacts with a receptor to effect a change in the activity of the receptor to control the survival, growth, differentiation and effector function of tissues and cells.	
HGNC:20580	CYP2R1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20580		
HGNC:20581	CYP26B1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20581		
HGNC:20582	CYP2U1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20582		
GO:0032729	positive regulation of interferon-gamma production	biolink:OntologyClass	mondo			positive regulation of interferon-gamma secretion|positive regulation of interferon-gamma biosynthetic process|positive regulation of type II interferon production|up-regulation of interferon-gamma production|up regulation of interferon-gamma production|activation of interferon-gamma production|stimulation of interferon-gamma production|upregulation of interferon-gamma production	http://purl.obolibrary.org/obo/GO_0032729	Any process that activates or increases the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon.	
HGNC:32550	ZBTB42	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/32550		
CHEBI:59999	chemical substance	biolink:ChemicalSubstance	mondo			Chemische Substanz	http://purl.obolibrary.org/obo/CHEBI_59999	A chemical substance is a portion of matter of constant composition, composed of molecular entities of the same type or of different types.	
FOODON:03460225	food component addition process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03460225		
MONDO:0019450	lissencephaly with cerebellar hypoplasia	biolink:Disease	mondo	SCTID:715817007|Orphanet:86823|UMLS:C4274995|ICD10:Q04.3	ordo_group_of_disorders	LCH	http://purl.obolibrary.org/obo/MONDO_0019450	-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F.	UMLS:C4274995|SNOMEDCT:715817007|ORPHA:86823
MONDO:0007469	double nail for fifth toe	biolink:Disease	mondo	OMIM:126500|GARD:0009672|MESH:C565090	gard_rare	double nail for fifth toe|Double nails on the fifth toe|fifth toe, double nails	http://purl.obolibrary.org/obo/MONDO_0007469		http://identifiers.org/omim/126500|MESH:C565090
FOODON:03411297	vertebrate animal	biolink:OntologyClass	mondo			animal	http://purl.obolibrary.org/obo/FOODON_03411297	A vertebrate animal is any species of organism within the subphylum Vertebrata (chordates with backbones). Vertebrates represent the overwhelming majority of the phylum Chordata, with currently about 69,276 species described.	
MONDO:0020445	agenesis of the superior vena cava	biolink:Disease	mondo	ICD9:747.49|ICD10:Q26.8|Orphanet:99114|SCTID:204464007	ordo_morphological_anomaly	agenesis of the SVC|agenesis of the superior caval vein|absence of the superior vena cava|absence of the SVC|absence of the superior caval vein	http://purl.obolibrary.org/obo/MONDO_0020445	Agenesis of the superior vena cava (SVC) is a rare congenital anomaly of the great veins characterized by unilateral or bilateral complete absence of the SVC. Unilateral agenesis is mainly asymptomatic (most of the time diagnosed incidentally) and patients usually have otherwise normal heart structure. Bilateral agenesis, however, is frequently associated with other congenital cardiac anomalies and/or conduction abnormalities (such as tetralogy of Fallot, atrial septal defect) and typically present symptoms of SVC syndrome.	ORPHA:99114|SNOMEDCT:204464007
MONDO:0007467	DNA, low-repetitive sequences of	biolink:Disease	mondo	OMIM:126390		repetitive sequence DNA|DNA, low-repetitive sequences of	http://purl.obolibrary.org/obo/MONDO_0007467		http://identifiers.org/omim/126390
MONDO:0007468	obsolete DNA, satellite, alpha type	biolink:Disease	mondo	OMIM:126410		DNA, satellite, alpha type	http://purl.obolibrary.org/obo/MONDO_0007468		http://identifiers.org/omim/126410
MONDO:0020444	subaortic course of innominate vein	biolink:Disease	mondo	ICD10:Q26.8|SCTID:766756002|Orphanet:99113	ordo_morphological_anomaly	subaortic course of brachiocephalic vein	http://purl.obolibrary.org/obo/MONDO_0020444	Subaortic course of innominate vein is a rare congential anomaly of the great veins characterized by an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated.	ORPHA:99113|SNOMEDCT:766756002
MONDO:0020443	absence of innominate vein	biolink:Disease	mondo	ICD10:Q26.8|Orphanet:99112	ordo_morphological_anomaly	absence of brachiocephalic vein	http://purl.obolibrary.org/obo/MONDO_0020443	Absence of innominate vein is a rare congenital anomaly of the great veins characterized by absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases.	ORPHA:99112
MONDO:0007465	distichiasis with congenital anomalies of the heart and peripheral vasculature	biolink:Disease	mondo	Orphanet:1683|MESH:C565092|UMLS:C1852062|OMIM:126320		distichiasis-congenital heart defects-peripheral vascular anomalies syndrome|distichiasis with congenital anomalies of the heart and peripheral vasculature	http://purl.obolibrary.org/obo/MONDO_0007465		UMLS:C1852062|http://identifiers.org/omim/126320|MESH:C565092|ORPHA:1683
MONDO:0020442	left superior vena cava persisting to left-sided atrium	biolink:Disease	mondo	SCTID:445436005|ICD9:747.49|ICD10:Q26.1|Orphanet:99111	ordo_morphological_anomaly	left superior caval vein persisting to left-sided atrium|left SVC persisting to left-sided atrium	http://purl.obolibrary.org/obo/MONDO_0020442		ORPHA:99111|SNOMEDCT:445436005
MONDO:0007466	DNA, satellite, 3	biolink:Disease	mondo	OMIM:126370		HS3|DNA, satellite, type 3|DNA, satellite, III; HS3|D1Z1|DNA, satellite, III; HS3; D1Z1	http://purl.obolibrary.org/obo/MONDO_0007466		http://identifiers.org/omim/126370
FOODON:00003374	harvested food material	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00003374	Organic food material that has been harvested.	
MONDO:0020441	right superior vena cava connecting to left-sided atrium	biolink:Disease	mondo	Orphanet:99110|ICD10:Q26.8	ordo_morphological_anomaly	right SVC connecting to left-sided atrium|right superior caval vein connecting to left-sided atrium	http://purl.obolibrary.org/obo/MONDO_0020441	Right superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by the right SVC passing medially and dorsally to the aortic root and draining into the left atrium. Patients usually present a right-to-left systemic venous blood shunt which may manifest with arterial hypoxemia, cyanosis, exercise dyspnea, clubbing of the fingers, palpitations, murmurs and/or potentially fatal brain abscess. Association with other cardiac anomalies has been reported.	ORPHA:99110
MONDO:0007463	distal osteosclerosis	biolink:Disease	mondo	OMIM:126250|UMLS:C1852063|MESH:C565093		osteosclerosis, distal|distal osteosclerosis	http://purl.obolibrary.org/obo/MONDO_0007463		UMLS:C1852063|http://identifiers.org/omim/126250|MESH:C565093
MONDO:0007464	obsolete isolated distichiasis	biolink:Disease	mondo	ICD9:743.63|SCTID:95339000|OMIM:126300|Orphanet:99177|ICD10:Q10.3	ordo_morphological_anomaly	eyelashes, two rows of|distichiasis	http://purl.obolibrary.org/obo/MONDO_0007464	Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated.	ORPHA:99177|http://identifiers.org/omim/126300|SNOMEDCT:95339000
MONDO:0020440	persistent left superior vena cava connecting to the left-sided atrium	biolink:Disease	mondo	Orphanet:99109|ICD10:Q26.1	ordo_morphological_anomaly	left superior caval vein persisting to the left-sided atrium|persistent left SVC connecting to the left-sided atrium|persistent left superior caval vein connecting to the left-sided atrium	http://purl.obolibrary.org/obo/MONDO_0020440	Persistent left superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by a persitent left superior vena cava which drains directly to the left atrium, without passing through the coronary sinus (that may be absent in some cases). Patients are usually asymptomatic and discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatrium) and risk of paradoxical embolization may be associated.	ORPHA:99109
MONDO:0007461	short stature-valvular heart disease-characteristic facies syndrome	biolink:Disease	mondo	Orphanet:2868|MESH:C565094|ICD10:Q87.1|OMIM:126190|UMLS:C1852073	ordo_malformation_syndrome	disproportionate short stature with ptosis and valvular heart lesions	http://purl.obolibrary.org/obo/MONDO_0007461	Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait.	http://identifiers.org/omim/126190|ORPHA:2868|MESH:C565094|UMLS:C1852073
MONDO:0007462	multiple sclerosis, susceptibility to	biolink:Disease	mondo	OMIMPS:126200	predisposition|prototype_pattern	disseminated sclerosis|MS	http://purl.obolibrary.org/obo/MONDO_0007462		
GO:0044706	multi-multicellular organism process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0044706	A multicellular organism process which involves another multicellular organism of the same or different species.	
MONDO:0007460	discrimination, Two-point, reduction 1N	biolink:Disease	mondo	OMIM:126180		discrimination, TWO-point, reduction IN|discrimination, Two-point, reduction type 1N|sensory discrimination	http://purl.obolibrary.org/obo/MONDO_0007460		http://identifiers.org/omim/126180
MONDO:0020439	patent foramen ovale (disease)	biolink:Disease	mondo	MESH:D054092|DOID:13620|UMLS:C0016522|ICD10:Q21.1|Orphanet:99108|MedDRA:10016982|HP:0001655|NCIT:C34619	ordo_morphological_anomaly	atrial septal defect within oval fossa|ostium secundum type atrial septal defect|foramen ovale patent|patent foramen ovale|defect, patent or persistent, ostium secundum|persistent ostium secundum	http://purl.obolibrary.org/obo/MONDO_0020439	A persistent opening in the atrial septum after birth. While a normal part of fetal circulation, the foramen ovale should close once the newborn begins breathing and the pressure in the left atrium exceeds that of the right atrium. While a PFO is generally asymptomatic, it can lead to the passage of clots from the venous circulation into the artierial circulation, resulting in paradoxical emboli, and possible strokes.	UMLS:C0016522|ORPHA:99108|MESH:D054092|NCIT:C34619|DOID:13620|MEDDRA:10016982
MONDO:0020438	atrial septal aneurysm	biolink:Disease	mondo	ICD10:Q21.1|UMLS:C0521533|SCTID:95440004|Orphanet:99107	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0020438		UMLS:C0521533|SNOMEDCT:95440004|ORPHA:99107
MONDO:0020437	atrial septal defect, ostium primum type	biolink:Disease	mondo	GARD:0010695|MESH:C548006|Orphanet:99106|ICD10:Q21.2	ordo_clinical_subtype	ostium primum ASD|ASD ostium primum type|ASD, ostium primum type|atrial septal defect ostium primum	http://purl.obolibrary.org/obo/MONDO_0020437		ORPHA:99106|UMLS:C0741296|MESH:C548006
GO:0044703	multi-organism reproductive process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0044703	A biological process that directly contributes to the process of producing new individuals, involving another organism.	
MONDO:0019459	obsolete myeloid sarcoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019459		
MONDO:0020436	atrial septal defect, sinus venosus type	biolink:Disease	mondo	GARD:0010696|MESH:C548009|SCTID:95268002|ICD10:Q21.1|Orphanet:99105	ordo_clinical_subtype	ASD, sinus venosus type|atrial septal defect sinus venosus|sinus venosus ASD|sinus venosus atrial septal defects	http://purl.obolibrary.org/obo/MONDO_0020436		SNOMEDCT:95268002|ORPHA:99105|UMLS:C0344730|MESH:C548009
MONDO:0044406	arthrogryposis-ectodermal dysplasia-other anomalies syndrome	biolink:Disease	mondo	GARD:0005029|Orphanet:3200	ordo_malformation_syndrome	Stoll-Alembik-Finck syndrome	http://purl.obolibrary.org/obo/MONDO_0044406		ORPHA:3200
MONDO:0020435	atrial septal defect, coronary sinus type	biolink:Disease	mondo	SCTID:40272001|GARD:0010697|ICD10:Q21.1|Orphanet:99104|ICD9:746.89	gard_rare|ordo_clinical_subtype	atrial septal defect coronary sinus|unroofed coronary sinus|ASD coronary sinus|coronary sinus atrial septal defects|ASD, coronary sinus type	http://purl.obolibrary.org/obo/MONDO_0020435		SNOMEDCT:40272001|ORPHA:99104
MONDO:0019456	acute myeloid leukemia with multilineage dysplasia	biolink:Disease	mondo	UMLS:C1292773|SCTID:445448008|ICD10:C92.8|ICDO:9895/3|GARD:0012761|Orphanet:86845|NCIT:C9289	ordo_disease	AML with multilineage dysplasia|De novo acute myeloid leukemia with multilineage dysplasia|AML with myelodysplasia-related features|acute myeloid leukaemia with myelodysplasia-related features	http://purl.obolibrary.org/obo/MONDO_0019456	An acute myeloid leukemia arising de novo and not as a result of treatment. It is characterized by the presence of myelodysplastic features in at least 50% of the cells of at least two hematopoietic cell lines. Patients often present with severe cytopenia.	UMLS:C1292773|NCIT:C9289|ORPHA:86845|SNOMEDCT:445448008
MONDO:0019455	acute panmyelosis with myelofibrosis	biolink:Disease	mondo	MedDRA:10000879|SCTID:109991003|UMLS:C0334674|NCIT:C4344|ONCOTREE:APMF|ICD10:C94.4|ICD9:289.89|ICDO:9931/3|Orphanet:86843|GARD:0011907	ordo_disease|gard_rare	acute myelodysplasia with myelofibrosis|acute myelosclerosis|APMF|acute (malignant) myelosclerosis|acute myelofibrosis|acute (malignant) myelofibrosis|acute panmyelosis	http://purl.obolibrary.org/obo/MONDO_0019455	An acute myeloid leukemia characterized by bone marrow fibrosis without preexisting primary myelofibrosis.	NCIT:C4344|UMLS:C0334674|MEDDRA:10000879|SNOMEDCT:109991003|ORPHA:86843
MONDO:0019458	acute basophilic leukemia	biolink:Disease	mondo	UMLS:C0221292|NCIT:C3164|Orphanet:86849|UMLS:C0023437|ONCOTREE:ABL|EFO:0003029|SCTID:307592006|ICD10:C94.7|MESH:D015471|ICDO:9870/3	ordo_disease	basophilic leukemia|leukemia basophilic	http://purl.obolibrary.org/obo/MONDO_0019458	A rare acute myeloid leukemia in which the immature cells differentiate towards basophils.	UMLS:C0221292|UMLS:C0023437|SNOMEDCT:307592006|NCIT:C3164|MESH:D015471|ORPHA:86849
MONDO:0019457	therapy related acute myeloid leukemia and myelodysplastic syndrome	biolink:Disease	mondo	SCTID:721306009|NCIT:C25765|Orphanet:86846|GARD:0012762|ICD10:C92.0	gard_rare|ordo_group_of_disorders	Secondary Acute myeloid Leukemia (AML)|secondary acute myeloid leukemia|Secondary Acute myeloblastic Leukemia|Secondary Acute granulocytic Leukemia|Secondary Acute myelogenous Leukemia|Secondary Acute myelocytic Leukemia|Secondary AGL|therapy-related AML and myelodysplastic syndrome|secondary AML	http://purl.obolibrary.org/obo/MONDO_0019457	An acute myeloid leukemia secondary to a myelodysplastic syndrome or therapy-related. (WHO, 2001)	UMLS:C1292776|NCIT:C25765|SNOMEDCT:721306009|ORPHA:86846
MONDO:0019452	myeloproliferative neoplasm, unclassifiable	biolink:Disease	mondo	NCIT:C27350|ICDO:9975/3|ICD10:D47.1|UMLS:C1333046|Orphanet:86830	ordo_disease	MPN, U|CMPD, U|MPN-U|myeloproliferative neoplasm, unclassifiable|chronic myeloproliferative disease, unclassifiable|chronic myeloproliferative disorder, unclassifiable|unclassifiable chronic myeloproliferative disease|unclassifiable chronic myeloproliferative disorder|undifferentiated myeloproliferative disease|CMPD-U	http://purl.obolibrary.org/obo/MONDO_0019452	This subgroup of myeloproliferative neoplasms includes cases which do not meet the morphologic criteria of any of the defined myeloproliferative neoplasms, or which have characteristics that overlap at least two of the myeloproliferative neoplasms.	UMLS:C1333046|ORPHA:86830|NCIT:C27350
MONDO:0019451	chronic neutrophilic leukemia	biolink:Disease	mondo	Orphanet:86829|MESH:D015467|UMLS:C0023481|NCIT:C3179|EFO:1000179|SCTID:188734009|GARD:0010585|ICDO:9963/3|ICD10:D47.1|DOID:0080187|ONCOTREE:CNL|UMLS:C0474856	gard_rare|ordo_disease	chronic neutrophilic leukemia|neutrophilic leukemia|CNL	http://purl.obolibrary.org/obo/MONDO_0019451	A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene.	NCIT:C3179|MESH:D015467|DOID:0080187|ORPHA:86829|SNOMEDCT:188734009|UMLS:C0023481|UMLS:C0474856
MONDO:0019454	myelodysplastic syndrome with excess blasts	biolink:Disease	mondo	MESH:D000754|ICDO:9983/3|UMLS:C0002894|MedDRA:10038270|Orphanet:86839|COHD:136949|EFO:0003811|ICD10:D46.2|NCIT:C7506|SCTID:398623004	ordo_disease	refractory Anemia with Excess blasts|MDS-EB|RAEB|myelodysplastic syndrome with Excess blasts|refractory Anemia with an Excess of blasts	http://purl.obolibrary.org/obo/MONDO_0019454	A myelodysplastic syndrome characterized by the presence of 5-19% myeloblasts in the bone marrow or 2-19% blasts in the peripheral blood. It includes two categories: myelodysplastic syndrome with excess blasts-1 and myelodysplastic syndrome with excess blasts-2.	MEDDRA:10038270|UMLS:C0002894|SNOMEDCT:398623004|ORPHA:86839|MESH:D000754|NCIT:C7506
MONDO:0019453	refractory cytopenia with multilineage dysplasia	biolink:Disease	mondo	ICD9:238.72|ICDO:9985/3|Orphanet:86836|ICD10:D46.A|SCTID:415285009|UMLS:C0796466|MedDRA:10067959|NCIT:C8574|ICD10:D46.7	ordo_group_of_disorders	RCMD|MDS-MLD|refractory cytopenia with multilineage dysplasia|myelodysplastic syndrome with multilineage dysplasia	http://purl.obolibrary.org/obo/MONDO_0019453	Refractory cytopenias with multilineage dysplasia (RCMD) is a frequent subtype of myelodysplastic syndrome (MDS) characterized by 1 or more cytopenias in the peripheral blood and dysplasia in 2 or more myeloid lineages.	MEDDRA:10067959|UMLS:C0796466|ORPHA:86836|NCIT:C8574|SNOMEDCT:415285009
HGNC:32528	PRCD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/32528		
MONDO:0020434	atrial septal defect, ostium secundum type	biolink:Disease	mondo	MedDRA:10031302|ICD10:Q21.1|GARD:0005865|COHD:434467|Orphanet:99103|MedDRA:10031303	ordo_clinical_subtype	osASD|ASD ostium secundum type|ASD, ostium secundum type|ostium secundum atrial septal defect|ostium secundum ASD	http://purl.obolibrary.org/obo/MONDO_0020434		ORPHA:99103|UMLS:C0344724|MEDDRA:10031303|MEDDRA:10031302
MONDO:0007478	autosomal dominant Kenny-Caffey syndrome	biolink:Disease	mondo	Orphanet:93325|OMIM:127000|NCIT:C130993|GARD:0000083|UMLS:CN031291|ICD10:Q87.1	ordo_etiological_subtype|gard_rare	dwarfism, cortical thickening of tubular bones and transient hypocalcemia|Kenny-Caffey syndrome, type 2; KCS2|Kenny syndrome|Kenny-Caffey syndrome, type 2|Kenny-Caffey syndrome, autosomal dominant|Kenny-Caffey syndrome type 2|KCS2|dwarfism, cortical thickening of tubular bones, and transient hypocalcemia	http://purl.obolibrary.org/obo/MONDO_0007478	An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones.	NCIT:C130993|http://identifiers.org/omim/127000|ORPHA:93325|UMLS:CN031291
MONDO:0007479	dwarfism, Levi type	biolink:Disease	mondo	UMLS:C1851994|MESH:C565081|GARD:0006294|OMIM:127100	gard_rare	dwarfism, Levi type|dwarfism Levi's type|dwarfism Levi type|snub-nosed type of dwarfism	http://purl.obolibrary.org/obo/MONDO_0007479		http://identifiers.org/omim/127100|UMLS:C1851994|MESH:C565081
MONDO:0020433	ectasia of the left appendage	biolink:Disease	mondo	Orphanet:99102|ICD10:Q20.8	ordo_morphological_anomaly	dilatation of the left atrial appendage|ectasia of the left auricle|dilatation of the left appendage|dilatation of the left auricle|ectasia of the left atrial appendage	http://purl.obolibrary.org/obo/MONDO_0020433	Ectasia of the left atrial appendage is a rare cardiac malformation characterized by the enlargement of the left auricle without any other associated cardiac lesions. It can be asymptomatic (discovered fortuitously during routine chest imaging as an unusual cardiac shadow) or present clinically with supraventricular tachyarrhythmia, paroxysmal tachycardia, embolic events, respiratory distress, chest pain, angina pectoris or heart failure.	ORPHA:99102
GO:0044710		biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0044710		
MONDO:0007476	familial Dupuytren contracture	biolink:Disease	mondo	OMIM:126900|Orphanet:79142|ICD10:M72.0|SCTID:274142002|GARD:0012165	ordo_disease	plantar fibromatosis, familial|plantar fibromas|Dupuytren contracture 1|Dupuytren contracture	http://purl.obolibrary.org/obo/MONDO_0007476	Familial Dupuyren contracture is a rare, genetic, epidermal disease characterized by a, usually unilateral, progressive thickening and shortening of the palmar fascia, leading to permanent flexion contracture of the digits in several members of a family. It most commonly affects the fourth digit, followed by the fifth and then the third (first and second digits are usually spared).	http://identifiers.org/omim/126900|ORPHA:79142|SNOMEDCT:274142002
MONDO:0020432	ectasia of the right atrial appendage	biolink:Disease	mondo	ICD10:Q20.8|Orphanet:99101	ordo_morphological_anomaly	ectasia of the right atrial auricle|dilatation of the right atrial appendage|dilatation of the right atrial auricle	http://purl.obolibrary.org/obo/MONDO_0020432	Ectasia of the right atrial appendage is a rare cardiac malformation characterized by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnea or respiratory distress.	ORPHA:99101
MONDO:0020431	juxtaposition of the atrial appendages	biolink:Disease	mondo	ICD10:Q20.8|Orphanet:99100	ordo_morphological_anomaly	juxtaposition of the atrial auricles	http://purl.obolibrary.org/obo/MONDO_0020431	Juxtaposition of the atrial appendages is a rare atrial appendage anomaly when both appendages are located on the left or the right side of the great arteries. It is asymptomatic and is usually diagnosed incidentally, but is frequently associated with other congenital heart diseases.	ORPHA:99100
MONDO:0007477	3-M syndrome	biolink:Disease	mondo	DOID:0060241|Orphanet:2616|OMIMPS:273750|GARD:0005667|MESH:C535314|ICD9:756.59|SCTID:702342007|ICD10:Q87.1	ordo_malformation_syndrome|prototype_pattern	three M syndrome 1|dolichospondylic dysplasia|dwarfism with tall vertebrae|Miller-McKusick-Malvaux syndrome|Le Merrer syndrome|3-MSBN|gloomy face syndrome|gloomy face syndrome Yakut short stature syndrome, included|3-M syndrome|three-M slender-boned nanism|Yakut short stature syndrome|3M syndrome|three M syndrome|Dolichospondylic dysplasia|3M1	http://purl.obolibrary.org/obo/MONDO_0007477	3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.	UMLS:C1848862|UMLS:C1851996|ORPHA:2616|SNOMEDCT:702342007|MESH:C535314|DOID:0060241
MONDO:0007474	duodenal ulcer due to antral G-cell hyperfunction	biolink:Disease	mondo	GARD:0009743|OMIM:126840|MESH:C535721|UMLS:C1852009	gard_rare	duodenal ulcer due to antral G-cell hyperfunction|hypergastrinemic, hyperpepsinogenemic duodenal ulcer	http://purl.obolibrary.org/obo/MONDO_0007474		http://identifiers.org/omim/126840|MESH:C535721|UMLS:C1852009
MONDO:0020430	cor triatriatum sinister	biolink:Disease	mondo	SCTID:253353007|ICD10:Q24.2|ICD9:746.89|GARD:0012484|Orphanet:99099	gard_rare|ordo_morphological_anomaly	cor triatriatum sinistrum|divided left atrium	http://purl.obolibrary.org/obo/MONDO_0020430	Cor triatriatum sinister (CTS) results when the left atrium is divided into two compartments by a membrane. The membrane can vary in size and shape and may have one or more openings. Severe cases of cor triatriatum sinister usually present in infancy and are often associated with other heart defects. In less severe cases, the diagnosis may not be made until later in life. The specific symptoms depend on the degree to which the membrane obstructs the flow of blood and whether or not there are additional heart defects. Symptoms may range from mild shortness of breath during exercise to signs of heart failure and lung congestion. Some people with CTS may not have symptoms. Treatment varies according to the severity of the symptoms. For symptomatic patients, surgery is generally consideredthe definitive course of therapy.	SNOMEDCT:253353007|ORPHA:99099
MONDO:0007475	duodenal ulcer, hyperpepsinogenemic 1	biolink:Disease	mondo	MESH:C565086|OMIM:126850|UMLS:C1852008		duodenal Ulcer, hyperpepsinogenemic type 1|duodenal ulcer, hyperpepsinogenemic I	http://purl.obolibrary.org/obo/MONDO_0007475		http://identifiers.org/omim/126850|MESH:C565086|UMLS:C1852008
MONDO:0007472	basal laminar drusen	biolink:Disease	mondo	DOID:0060746|MESH:C563034|OMIM:126700|UMLS:C0730295|ICD10:H35.5		cuticular drusen|drusen, early adult-onset, grouped|drusen of Bruch membrane|basal laminar drusen|drusen, cuticular|early adult-onset grouped drusen	http://purl.obolibrary.org/obo/MONDO_0007472	A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has material basis in mutations in the CFH gene on chromosome 1q31.3.	UMLS:C0730295|http://identifiers.org/omim/126700|MESH:C563034|DOID:0060746
MONDO:0007473	Duane retraction syndrome	biolink:Disease	mondo	SCTID:60318001|GARD:0006288|Orphanet:233|MedDRA:10013799|OMIMPS:126800|ICD10:H50.81|ICD9:378.71|COHD:376989|ICD10:H50.8|NCIT:C84678|UMLS:C0013261|DOID:12557|MESH:D004370	gard_rare|ordo_malformation_syndrome|prototype_pattern	Duane's syndrome|Duane retraction syndrome|Duane anomaly|Stilling-Turk-Duane syndrome|DRS|Duane syndrome|retraction syndrome|DURS	http://purl.obolibrary.org/obo/MONDO_0007473	Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia.	MESH:D004370|NCIT:C84678|MEDDRA:10013799|UMLS:C0013261|ORPHA:233|SNOMEDCT:60318001|DOID:12557
MONDO:0007470	calvarial doughnut lesions-bone fragility syndrome	biolink:Disease	mondo	UMLS:C1852022|SCTID:720598005|ICD10:M85.8|OMIM:126550|Orphanet:85192|MESH:C565089	ordo_malformation_syndrome	familial doughnut lesions of skull|doughnut lesions of skull, familial	http://purl.obolibrary.org/obo/MONDO_0007470	This syndrome is characterised by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria.	http://identifiers.org/omim/126550|SNOMEDCT:720598005|ORPHA:85192|MESH:C565089|UMLS:C1852022
MONDO:0007471	Doyne honeycomb retinal dystrophy	biolink:Disease	mondo	GARD:0001912|DOID:0060745|ICD10:H35.5|UMLS:C1832174|Orphanet:75376|OMIM:126600|UMLS:C1852020|SCTID:193411004|UMLS:CN205694	ordo_disease|gard_rare	Doyne honeycomb degeneration of retina|Malattia leventinese|dominant radial drusen|dominant drusen|Doyne honeycomb retinal dystrophy; DHRD|drusen, radial, autosomal dominant|DHRD|familial drusen|DHD|Doyne honeycomb retinal dystrophy	http://purl.obolibrary.org/obo/MONDO_0007471	Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized bysmall, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium(the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies.The degree of vision loss also varies. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner.	SNOMEDCT:193411004|ORPHA:75376|UMLS:C1832174|http://identifiers.org/omim/126600|UMLS:C1852020|DOID:0060745|UMLS:CN205694
MONDO:0020429	cor triatriatum dexter (disease)	biolink:Disease	mondo	ICD9:746.89|SCTID:274947007|Orphanet:99098|ICD10:Q24.2|GARD:0012483|HP:0011566	ordo_morphological_anomaly	cor triatriatum dextrum|divided right atrium|cor triatriatum dexter	http://purl.obolibrary.org/obo/MONDO_0020429		ORPHA:99098|SNOMEDCT:274947007
MONDO:0020428	congenital Gerbode defect	biolink:Disease	mondo	Orphanet:99095|SCTID:204312002|ICD10:Q21.0	ordo_morphological_anomaly	Gerbode defect|left ventricular-to-right atrial communication	http://purl.obolibrary.org/obo/MONDO_0020428		ORPHA:99095|SNOMEDCT:204312002
MONDO:0019449	lissencephaly type 3-familial fetal akinesia sequence syndrome	biolink:Disease	mondo	SCTID:718719001|ICD10:Q04.3|UMLS:CN227635|Orphanet:86821	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0019449	Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterised by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and foetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia.	SNOMEDCT:718719001|UMLS:CN227635|ORPHA:86821
MONDO:0020427	Laubry-Pezzi syndrome	biolink:Disease	mondo	ICD10:Q21.0|UMLS:CN207292|Orphanet:99094|SCTID:764955006	ordo_morphological_anomaly	ventricular septal defect with aortic insufficiency|VSD with aortic insufficiency	http://purl.obolibrary.org/obo/MONDO_0020427	Laubry-Pezzi syndrome is a rare, non-syndromic, congenital heart malformation characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations, chest pain and exercise intolerance.	ORPHA:99094|UMLS:CN207292|SNOMEDCT:764955006
MONDO:0019448	benign adult familial myoclonic epilepsy	biolink:Disease	mondo	DOID:0111689|UMLS:CN206220|SCTID:717225001|ICD10:G40.3|Orphanet:86814|UMLS:C4273988	ordo_disease	benign adult familial myoclonus epilepsy|ADCME|familial adult myoclonic epilepsy|autosomal dominant cortical myoclonus and epilepsy|FAME|FCMTE|BAFME|familial cortical myoclonic tremor and epilepsy	http://purl.obolibrary.org/obo/MONDO_0019448	Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.	DOID:0111689|UMLS:CN206220|SNOMEDCT:717225001|UMLS:C4273988|ORPHA:86814
MONDO:0020426	malposition of the coronary ostium	biolink:Disease	mondo	ICD10:Q24.5|Orphanet:99090	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0020426	Malposition of the coronary ostium is a rare coronary artery congenital malformation characterized by displacement of one of the coronary arteries, originating closer to the aortic root or to the commissural area. The anomaly is considered to be asymptomatic, however, it may impose surgical difficulties during aortic root surgery.	ORPHA:99090
MONDO:0020425	abnormal number of coronary ostia	biolink:Disease	mondo	Orphanet:99089|ICD10:Q24.5	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0020425		ORPHA:99089
MONDO:0020424	intramural coronary arterial course	biolink:Disease	mondo	Orphanet:99088|ICD10:Q24.5	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0020424	Intramural coronary arterial course is a rare coronary artery congenital malformation disorder characterized by an atypical course of a coronary artery (usually proximal left anterior descending artery) in which, for a variable length, the artery runs intramyocardally. Depending on the artery and length of segment involved, patients may be asymptomatic or may present variable manifestations ranging from atypical angina to sudden death.	UMLS:C0345123|ORPHA:99088
MONDO:0019445	trichofolliculoma	biolink:Disease	mondo	Orphanet:864|ICDO:8101/0|MedDRA:10044611|GARD:0005263|UMLS:C0334262|NCIT:C4112|MESH:C536553|SCTID:274899008	gard_rare|ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019445	Trichofolliculoma is a rare benign follicular hamartoma that develops primarily on the face of adults, with a particular predilection for the back of the nose, but also on the neck or scalp. It presents as a solitary hemispheric flesh-colored nodule with a central pore or black dot that may contain a tuft of hair.	NCIT:C4112|MEDDRA:10044611|UMLS:C0334262|SNOMEDCT:274899008|MESH:C536553|ORPHA:864
MONDO:0019444	Trichinellosis	biolink:Disease	mondo	Orphanet:863|ICD10:B75|SCTID:709018004|GARD:0005250|MESH:D014235|MedDRA:10044608	ordo_disease	infection with Trichinella|Human trichinellosis|trichiniasis|trichinosis	http://purl.obolibrary.org/obo/MONDO_0019444	A zoonotic parasitic disease caused by the consumption of raw or undercooked meat (pork and wild game) infected by nematodes of the genus Trichinella and that is characterized by an enteral (intestinal) phase, that can be asymptomatic or that can manifests with diarrhea, nausea, vomiting and abdominal pain, and a parenteral (muscular) phase, manifesting with fever, periorbital edema, muscle swelling and pain, weakness, and in some cases, skin rash and peripheral edema. Rarely, potentially fatal cardiac (i.e. myocarditis), pulmonary (i.e. pneumonitis, respiratory failure), and nervous system (i.e. meningoencephalitis) complications may occur.	UMLS:C0040896|MEDDRA:10044608|SNOMEDCT:709018004|MESH:D014235|ORPHA:863
MONDO:0019447	atypical lichen myxedematosus	biolink:Disease	mondo	Orphanet:86797|ICD10:L98.5|UMLS:C4510874|SCTID:725148000	ordo_disease	Intermediate lichen myxedematosus	http://purl.obolibrary.org/obo/MONDO_0019447	Atypical lichen myxedematosus is an intermediate form of lichen myxedematosus (LM) (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form. Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized LM (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). The course of atypical LM is unpredictable because only a few cases have been reported.	SNOMEDCT:725148000|UMLS:C4510874|ORPHA:86797
MONDO:0019446	localized lichen myxedematosus	biolink:Disease	mondo	Orphanet:86795|GARD:0007321|ICD10:L98.5	ordo_group_of_disorders	papular mucinosis	http://purl.obolibrary.org/obo/MONDO_0019446	Localized lichen myxedematosus is a group of skin diseases characterized by the development of papules, nodules and/or plaques with mucin deposits and a variable degree of fibrosis in the absence of thyroid disease. The group comprises five sub-forms: nodular lichen myxedematosus, discrete papular lichen myxedematosus, papular mucinosis of infancy, acral persistent papular mucinosis and self-healing papular mucinosis.	ORPHA:86795
MONDO:0019441	ATTRV122I amyloidosis	biolink:Disease	mondo	Orphanet:85451|ICD10:E85.4+|ICD10:I43.1*|SCTID:715655000	ordo_disease	ATTR cardiomyopathy|ATTRV122I-related amyloidosis|transthyretin-related familial amyloid cardiomyopathy|TTR-related cardiac amyloidosis|transthyretin amyloid cardiopathy|TTR-related amyloid cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0019441	Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.	SNOMEDCT:715655000|ORPHA:85451
MONDO:0019440	wild type ABeta2M amyloidosis	biolink:Disease	mondo	UMLS:CN206197|SCTID:32599008|Orphanet:85446|GARD:0010563|ICD10:E85.3	gard_rare|ordo_disease	wild type ABeta2-microglobulinic amyloidosis|amyloidosis beta2m|dialysis-related amyloidosis|amyloidosis dialysis-related|Beta-2-microglobulin amyloidosis|dialysis-related arthropathy|ABeta2Mwt amyloidosis|DRA	http://purl.obolibrary.org/obo/MONDO_0019440		SNOMEDCT:32599008|ORPHA:85446|UMLS:CN206197
MONDO:0019443	dextro-looped transposition of the great arteries	biolink:Disease	mondo	DOID:0060770|OMIMPS:608808|Orphanet:860|ICD10:Q20.3	ordo_morphological_anomaly	DTGA|isolated ventriculoarterial discordance|D-TGA|congenitally uncorrected transposition of the great arteries|ventriculoarterial discordance with atrioventricular concordance|congenitally uncorrected transposition of the great vessels	http://purl.obolibrary.org/obo/MONDO_0019443	Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance.	DOID:0060770|ORPHA:860
MONDO:0019442	obsolete congenital toxoplasmosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019442		
MONDO:0007449	dermo-odonto dysplasia	biolink:Disease	mondo	UMLS:C1852144|SCTID:721091003|MESH:C565103|UMLS:C4303591|Orphanet:1660|ICD10:Q82.4|OMIM:125640|GARD:0001816	ordo_malformation_syndrome	dermoodonto dysplasia|dermo-odonto-dysplasia|ectodermal dysplasia, hair-nail-Tooth type|DERMOODONTODYSPLASIA|dermo-odonto dysplasia|dermo odontodysplasia	http://purl.obolibrary.org/obo/MONDO_0007449	Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasias. It is characterised by signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so far. Autosomal dominant transmission is likely.	http://identifiers.org/omim/125640|SNOMEDCT:721091003|ORPHA:1660|MESH:C565103|UMLS:C4303591|UMLS:C1852144
MONDO:0007447	autosomal dominant vibratory urticaria	biolink:Disease	mondo	Orphanet:493342|MESH:C536347|UMLS:C0473546|ICD9:995.1|SCTID:238694002|UMLS:C1852146|OMIM:193050|OMIM:125630	ordo_disease	vibratory urticaria; VBU|DDU|dermodistortive urticaria; DDU|vibratory angioedema|dermodistortive urticaria|angioedema, vibratory|vibratory urticaria, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0007447	An autosomal dominant disease characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum.	MESH:C536347|http://identifiers.org/omim/193050|ORPHA:493342|UMLS:C1852146|UMLS:C0473546|SNOMEDCT:238694002|http://identifiers.org/omim/125630
MONDO:0007448	familial dermatographia	biolink:Disease	mondo	OMIM:125635|COHD:132983|MESH:C536612|GARD:0009480|ICD9:708.3|SCTID:7632005|ICD10:L50.3|DOID:743|EFO:1000685	gard_rare	dermographism|DDU|familial dermographism|dermatographia|familial dermatographism|dermatographic urticaria|dermographism, familial|dermo-distortive urticaria|Dermatographism, familial|VBU|Dermodistortive urticaria|vibratory angioedema|vibratory urticaria	http://purl.obolibrary.org/obo/MONDO_0007448	Familial dermographism is a condition also known as skin writing. When people who have dermatographia lightly scratch their skin, the scratches redden into a raised wheal similar to hives. Signs and symptoms of dermatographia include raised red lines, swelling, inflammation, hive-like welts and itching. Symptoms usually disappear within 30 minutes. The exact cause of this condition is unknown. Treatment mayinvovle use of antihistamines if symptoms do not go away on their own.	DOID:743|MESH:C536612|SNOMEDCT:7632005|NCIT:C111885|http://identifiers.org/omim/125635
MONDO:0007445	dermatopathia pigmentosa reticularis	biolink:Disease	mondo	MESH:C535374|SCTID:239088003|Orphanet:86920|DOID:0111342|GARD:0008550|OMIM:125595|ICD10:Q82.4	gard_rare|ordo_disease	DPR|dermatopathia pigmentosa reticularis|dermatopathia pigmentosa reticularis; DPR	http://purl.obolibrary.org/obo/MONDO_0007445		ORPHA:86920|DOID:0111342|MESH:C535374|SNOMEDCT:239088003|http://identifiers.org/omim/125595|UMLS:C0406778
MONDO:0020423	stenosis or atrophy of the coronary ostium	biolink:Disease	mondo	Orphanet:99087|ICD10:Q24.5	ordo_morphological_anomaly	stenosis or atresia of the coronary ostium|coronary ostial stenosis or atresia	http://purl.obolibrary.org/obo/MONDO_0020423		ORPHA:99087
MONDO:0007446	dermatosis papulosa nigra	biolink:Disease	mondo	ICD10:L82|SCTID:254669003|Wikipedia:Dermatosis_papulosa_nigra|UMLS:C0011645|ICD9:709.8|NCIT:C2984|OMIM:125600|MESH:C562379|DOID:4400|EFO:1000686		dermatosis papulosa nigra|dermatosis papulosa nigra (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0007446	A benign skin condition commonly seen in dark-skinned individuals that is characterized by multiple small hyperpigmented papular lesions resembling seborrheic keratosis on the face and upper body.	DOID:4400|UMLS:C0011645|MESH:C562379|SNOMEDCT:254669003|NCIT:C2984|http://identifiers.org/omim/125600
MONDO:0020422	aortopulmonary coronary arterial course	biolink:Disease	mondo	Orphanet:99086|ICD10:Q24.5	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0020422	Aortopulmonary coronary arterial course is a rare coronary artery congenital malformation characterized by anomalous origin of the coronary artery from the contralateral sinus of Valsalva with course between the aorta and the pulmonary artery. The anomaly is associated with increased risk of sudden cardiac death, especially during exercise.	ORPHA:99086
MONDO:0007443	congenital unilateral hypoplasia of depressor anguli oris	biolink:Disease	mondo	SCTID:51409009|ICD9:759.89|OMIM:125520|ICD10:Q87.0|Orphanet:1166	ordo_morphological_anomaly	depressor anguli oris muscle, hypoplasia of|facial paresis, partial, unilateral|Cayler cardiofacial syndrome|isolated asymmetric crying facies|asymmetric crying facies	http://purl.obolibrary.org/obo/MONDO_0007443	Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood).	MESH:C535349|UMLS:C0431406|ORPHA:1166|SNOMEDCT:51409009|http://identifiers.org/omim/125520
MONDO:0020421	coronary artery intramyocardial course	biolink:Disease	mondo	ICD10:Q24.5|Orphanet:99085	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0020421		ORPHA:99085
MONDO:0007444	dermal Ridges, patternless	biolink:Disease	mondo	OMIM:125540|UMLS:C1852160|MESH:C565109		dermal Ridges, patternless	http://purl.obolibrary.org/obo/MONDO_0007444		UMLS:C1852160|http://identifiers.org/omim/125540|MESH:C565109
MONDO:0020420	pulmonary branch stenosis	biolink:Disease	mondo	Orphanet:99084|NCIT:C99144|UMLS:C2062889|ICD10:Q25.6	ordo_morphological_anomaly	branch pulmonary artery stenosis|pulmonary artery stenosis, branch (not PPS)|peripheral pulmonary stenosis	http://purl.obolibrary.org/obo/MONDO_0020420	Narrowing of the lumen of the right or left pulmonary artery branch.	ORPHA:99084|UMLS:C2062889|NCIT:C99144
MONDO:0007441	dentinogenesis imperfecta type 2	biolink:Disease	mondo	ICD10:K00.5|Orphanet:166260|GARD:0012796|OMIM:125490	ordo_clinical_subtype	DI-2|dentinogenesis imperfecta 1|Capdepont teeth|DGI1|opalescent teeth without osteogenesis imperfecta|opalescent dentin|DGI-II|dentinogenesis imperfecta, Shields type 2|dentinogenesis imperfecta without osteogenesis imperfecta|dentinogenesis imperfecta 1; DGI1|dentinogenesis imperfecta type 1|DGI-2	http://purl.obolibrary.org/obo/MONDO_0007441	Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI) and is characterized by weakness and discoloration of all teeth.	ORPHA:166260|http://identifiers.org/omim/125490
MONDO:0007442	dentinogenesis imperfecta type 3	biolink:Disease	mondo	GARD:0010144|MESH:C538216|ICD9:520.5|OMIM:125500|SCTID:234970006|ICD10:K00.5|Orphanet:166265	ordo_clinical_subtype|gard_rare	dentinogenesis imperfecta type III|dentinogenesis imperfecta Shields type 3|dentinogenesis imperfecta, Shields type 3|DGI-III|brandywine type dentinogenesis imperfecta|dentinogenesis imperfecta, Shields type III	http://purl.obolibrary.org/obo/MONDO_0007442	Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy).	SNOMEDCT:234970006|ORPHA:166265|MESH:C538216|http://identifiers.org/omim/125500
MONDO:0007440	major affective disorder 1	biolink:Disease	mondo	DOID:0080220|OMIM:125480		MAFD1|manic-depressive psychosis|bipolar affective disorder|MAJOR affective disorder 1; MAFD1|major affective disorder 1|manic-depressive psychosis, autosomal	http://purl.obolibrary.org/obo/MONDO_0007440		http://identifiers.org/omim/125480|DOID:0080220
MONDO:0020419	pulmonary artery hypoplasia (disease)	biolink:Disease	mondo	ICD10:Q25.7|SCTID:54682008|HP:0004971|Orphanet:99083	ordo_morphological_anomaly	pulmonary artery hypoplasia	http://purl.obolibrary.org/obo/MONDO_0020419		SNOMEDCT:54682008|ORPHA:99083
GO:0030193	regulation of blood coagulation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0030193	Any process that modulates the frequency, rate or extent of blood coagulation.	
MONDO:0020418	dysphagia lusoria	biolink:Disease	mondo	ICD10:Q25.4|SCTID:231719009|ICD9:787.29|Orphanet:99082|UMLS:C0267073	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0020418		SNOMEDCT:231719009|UMLS:C0267073|ORPHA:99082
MONDO:0020417	right aortic arch (disease)	biolink:Disease	mondo	MedDRA:10067407|SCTID:111321007|HP:0012020|Orphanet:99081|ICD10:Q25.4|NCIT:C103917	ordo_morphological_anomaly	right aortic arch	http://purl.obolibrary.org/obo/MONDO_0020417	An anatomic abnormality that occurs during embryonic development, in which the aortic arch is right-sided.	UMLS:C0035615|MEDDRA:10067407|ORPHA:99081|SNOMEDCT:111321007|NCIT:C103917
MONDO:0019438	AL amyloidosis	biolink:Disease	mondo	MedDRA:10036673|Orphanet:85443|UMLS:C0268381|GARD:0005797|MESH:C531616|ICD10:E85.9	ordo_disease|gard_rare	primary AL amyloidosis|amyloidosis AL|Light chain amyloidosis|systemic AL amyloidsis|primary systemic amyloidosis|primary amyloidosis|amyloidosis primary systemic|primary systemic AL amyloidosis|primary amyloidosis (formerly)|Light-chain amyloidosis	http://purl.obolibrary.org/obo/MONDO_0019438	AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ.	ORPHA:85443|UMLS:C0268381|MESH:C531616|MEDDRA:10036673
MONDO:0020416	Neuhauser anomaly	biolink:Disease	mondo	SCTID:766751007|Orphanet:99078|ICD10:Q25.4	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0020416	Neuhauser anomaly is a rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterized by tracheoesophageal compression symptoms (stridor, dyspnea, dysphagia, apnoeic episodes, recurrent respiratory infections).	ORPHA:99078|SNOMEDCT:766751007
MONDO:0019437	enthesitis-related juvenile idiopathic arthritis	biolink:Disease	mondo	ICD10:M08.8|SCTID:410801005|NCIT:C119024|GARD:0010969|Orphanet:85438	ordo_malformation_syndrome|gard_rare	juvenile enthesitis-related arthritis|enthesitis-related arthritis|enthesitis related arthritis, juvenile|era|enthesitis-related JIA|juvenile spondylarthropathy	http://purl.obolibrary.org/obo/MONDO_0019437	Enthesitis-related juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and inflammation of an enthesitis site (the point at which a ligament, tendon, or joint capsule attaches to the bone). Signs and symptoms generally develop in late childhood or early adolescence and include pain, tenderness, and swelling in joints and at the enthesis. The knee and the back of the ankle (at the Achilles tendon) are the most commonly affected parts of the body. The underlying cause of enthesitis-related juvenile idiopathic arthritis is currently unknown (idiopathic). It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy.	ORPHA:85438|SNOMEDCT:410801005|NCIT:C119024
MONDO:0020415	Kommerell diverticulum	biolink:Disease	mondo	SCTID:74561007|Orphanet:99077|ICD10:Q25.4	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0020415	Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture.	ORPHA:99077|SNOMEDCT:74561007|UMLS:C0265885
MONDO:0020414	persistent fifth aortic arch	biolink:Disease	mondo	Orphanet:99076|ICD10:Q25.4	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0020414		UMLS:C0345066|ORPHA:99076
MONDO:0019439	AA amyloidosis	biolink:Disease	mondo	UMLS:C0221014|NCIT:C3818|Orphanet:85445|SCTID:281034005|GARD:0010560|ICD9:277.39|UMLS:C3536715|ICD10:E85.3|MedDRA:10039811	gard_rare|ordo_disease	amyloid A amyloidosis|reactive amyloidosis|secondary amyloidosis|inflammatory amyloidosis|amyloidosis AA	http://purl.obolibrary.org/obo/MONDO_0019439	Secondary amyloidosis is a form of amyloidosis, that complicates chronic inflammatory disorders (mainly rheumatoid arthritis) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement.	ORPHA:85445|UMLS:C0221014|UMLS:C3536715|SNOMEDCT:281034005|MEDDRA:10039811|NCIT:C3818
MONDO:0020413	encircling double aortic arch	biolink:Disease	mondo	ICD10:Q25.4|Orphanet:99075|SCTID:764521002	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0020413	Encircling double aortic arch is a very rare congenital anomaly of the great arteries characterized by the presence of two aortic arches (right and left) which encircle and compress the trachea and esophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Esophageal atresia and tracheoesophageal fistula have also been reported. It usually occurs isolated, but, on occasion, may be associated with other congenital heart anomalies and chromosomal aberations.	ORPHA:99075|SNOMEDCT:764521002
MONDO:0019434	systemic-onset juvenile idiopathic arthritis	biolink:Disease	mondo	NCIT:C119031|EFO:1001999|ICD10:M08.2|GARD:0010966|SCTID:201796004|Orphanet:85414	gard_rare|ordo_disease	systemic juvenile idiopathic arthritis|systemic-onset JIA|SoJIA|systemic polyarthritis|Still's disease (formerly)|sJIA|systemic onset juvenile rheumatoid arthritis|systemic onset juvenile idiopathic arthritis|Still disease	http://purl.obolibrary.org/obo/MONDO_0019434	Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio.	NCIT:C119031|SNOMEDCT:201796004|ORPHA:85414
MONDO:0019433	oligoarticular juvenile idiopathic arthritis	biolink:Disease	mondo	Orphanet:85410|ICD10:M08.4|MESH:C536312|NCIT:C119032|UMLS:C3898105|EFO:1002019|UMLS:C2931171|GARD:0004261	ordo_disease	Oligoarticular JIA|Pauciarticular chronic arthritis|Pauciarticular juvenile idiopathic arthritis|Pauciarticular JIA	http://purl.obolibrary.org/obo/MONDO_0019433	Oligoarticular juvenile arthritis is the most common form of juvenile idiopathic arthritis (JIA), representing nearly 50% of cases.	UMLS:C2931171|NCIT:C119032|MESH:C536312|UMLS:C3898105|ORPHA:85410
MONDO:0019436	psoriasis-related juvenile idiopathic arthritis	biolink:Disease	mondo	GARD:0010970|NCIT:C114361|ICD10:M09.0*|Orphanet:85436|SCTID:239802003|ICD10:L40.5+	ordo_disease	juvenile psoriatic arthritis|psoriasis-related JIA|JPsA	http://purl.obolibrary.org/obo/MONDO_0019436	Childhood arthritis typically associated with psoriasis.	SNOMEDCT:239802003|NCIT:C114361|UMLS:C0409672|ORPHA:85436
GO:0030198	extracellular matrix organization	biolink:OntologyClass	mondo			extracellular matrix organization and biogenesis|extracellular matrix organisation	http://purl.obolibrary.org/obo/GO_0030198	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix.	
MONDO:0019435	rheumatoid factor-positive polyarticular juvenile idiopathic arthritis	biolink:Disease	mondo	UMLS:C3890733|ICD10:M08.0|NCIT:C119034|Orphanet:85435	ordo_disease	rheumatoid factor-positive polyarticular JIA|polyarticular juvenile idiopathic arthritis, rheumatoid Factor Positive|polyarthritis with rheumatoid factor|polyarticular JIA, RF+|juvenile idiopathic rheumatoid factor-positive polyarthritis|polyarticular juvenile idiopathic arthritis, RF+	http://purl.obolibrary.org/obo/MONDO_0019435	A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with positive serologic testing for rheumatoid factor.	UMLS:C3890733|NCIT:C119034|ORPHA:85435
MONDO:0019430	X-linked intellectual disability-ataxia-apraxia syndrome	biolink:Disease	mondo	Orphanet:85338|ICD10:G31.8|UMLS:CN227633	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019430	X-linked intellectual disability-ataxia-apraxia syndrome is characterised by ataxia, apraxia, intellectual deficit and/or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers.	UMLS:CN227633|ORPHA:85338
NCBITaxon:1521262	Polypodiidae <ferns>	organism taxon	mondo	PMID:21652310|GC_ID:1		Polypodiidae	http://purl.obolibrary.org/obo/NCBITaxon_1521262		
MONDO:0019432	rheumatoid factor-negative juvenile idiopathic arthritis	biolink:Disease	mondo	Orphanet:85408|ICD10:M08.3	ordo_disease	rheumatoid factor-negative JIA|polyarthritis without rheumatoid factor|juvenile rheumatoid factor-negative polyarthritis	http://purl.obolibrary.org/obo/MONDO_0019432	Rheumatoid factor-negative polyarthritis is a term used to describe a group of poorly defined heterogenous conditions that incorporates forms of rheumatoid factor-negative polyarthritis and forms of oligoarticular arthritis that become extensive in less than 6 months after onset.	ORPHA:85408
GO:0030194	positive regulation of blood coagulation	biolink:OntologyClass	mondo			up regulation of blood coagulation|activation of blood coagulation|stimulation of blood coagulation|upregulation of blood coagulation|up-regulation of blood coagulation	http://purl.obolibrary.org/obo/GO_0030194	Any process that activates or increases the frequency, rate or extent of blood coagulation.	
MONDO:0019431	primitive portal vein thrombosis	biolink:Disease	mondo	MedDRA:10036206|ICD10:I81|Orphanet:854	ordo_clinical_syndrome	non-cirrhotic portal vein thrombosis	http://purl.obolibrary.org/obo/MONDO_0019431	Portal vein thrombosis (PVT) is associated with acute (recent) or chronic (long-standing) thrombosis of the portal system.	UMLS:C0155773|MEDDRA:10036206|ORPHA:854
GO:0030195	negative regulation of blood coagulation	biolink:OntologyClass	mondo			down-regulation of blood coagulation|down regulation of blood coagulation|downregulation of blood coagulation|inhibition of blood coagulation	http://purl.obolibrary.org/obo/GO_0030195	Any process that stops, prevents, or reduces the frequency, rate or extent of blood coagulation.	
MONDO:0007458	digitotalar dysmorphism; ulnar drift, hereditary	biolink:Disease	mondo	SCTID:715314008|OMIM:126050		ulnar drift, hereditary|digitotalar dysmorphism	http://purl.obolibrary.org/obo/MONDO_0007458		SNOMEDCT:715314008|http://identifiers.org/omim/126050
MONDO:0007459	dilution, pigmentary	biolink:Disease	mondo	GARD:0006731|OMIM:126070|UMLS:C1876214|SCTID:23006000		hypomelanotic disorder|hypopigmentation|dilution, pigmentary|albinism, partial|Albinoidism, oculocutaneous, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0007459		SNOMEDCT:23006000|UMLS:C1876214|http://identifiers.org/omim/126070
MONDO:0020412	congenital patent ductus arteriosus aneurysm	biolink:Disease	mondo	Orphanet:99072|SCTID:763316006|ICD10:Q25.8	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0020412	Congenital patent ductus arteriosus aneurysm is a rare, congenital, arterial duct anomaly characterized by a saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures, can develop. Spontaneous resolution has been reported.	ORPHA:99072|SNOMEDCT:763316006
MONDO:0007456	diarrhea, glucose-stimulated secretory, with common variable immunodeficiency	biolink:Disease	mondo	OMIM:125890|MESH:C565099|UMLS:C1852087		diarrhea, glucose-stimulated secretory, with common variable immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0007456		UMLS:C1852087|MESH:C565099|http://identifiers.org/omim/125890
MONDO:0007457	diastema, dental medial	biolink:Disease	mondo	MESH:C565098|OMIM:125900		diastema, dental medial	http://purl.obolibrary.org/obo/MONDO_0007457		http://identifiers.org/omim/125900|MESH:C565098
MONDO:0020411	aorto-left ventricular tunnel	biolink:Disease	mondo	Orphanet:99071|ICD10:Q20.8	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0020411		UMLS:C0345054|ORPHA:99071
MONDO:0007454	type 1 diabetes mellitus 2	biolink:Disease	mondo	MESH:C565100|DOID:0110741|UMLS:C1852092|ICD10:E10|OMIM:125852		IDDM2|diabetes mellitus, insulin-dependent, 2|INS type 1 diabetes mellitus|diabetes mellitus, insulin-dependent, type 2|type 1 diabetes mellitus caused by mutation in INS|insulin-dependent diabetes mellitus 2	http://purl.obolibrary.org/obo/MONDO_0007454	Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the INS gene.	DOID:0110741|UMLS:C1852092|http://identifiers.org/omim/125852|MESH:C565100
MONDO:0020410	aorto-right ventricular tunnel	biolink:Disease	mondo	Orphanet:99070|ICD10:Q20.8	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0020410		UMLS:C0345055|ORPHA:99070
MONDO:0007455	obsolete diabetes mellitus, noninsulin-dependent	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0007455		
MONDO:0007452	maturity-onset diabetes of the young type 1	biolink:Disease	mondo	OMIM:125850|UMLS:C1852093|DOID:0111099|GARD:0003418|NCIT:C129744|SCTID:609562003|MESH:C565101	gard_rare	MODY, type 1|type 1 maturity-onset diabetes of the young|MODY type 1|maturity onset diabetes of the Young, type 1|MODY1|maturity-onset diabetes of the young, type 1; MODY1|mild juvenile diabetes mellitus|maturity-onset diabetes of the young, type 1|diabetes mellitus MODY type 1|diabetes mellitus type 2|MODY HNF4A related|HNF4A-associated monogenic diabetes|hepatocyte nuclear Factor 4-Alpha associated monogenic diabetes	http://purl.obolibrary.org/obo/MONDO_0007452	Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha.	SNOMEDCT:609562003|UMLS:C1852093|DOID:0111099|http://identifiers.org/omim/125850|NCIT:C129744|MESH:C565101
MONDO:0007453	maturity-onset diabetes of the young type 2	biolink:Disease	mondo	DOID:0111100|GARD:0010657|SCTID:237604008|NCIT:C129741|OMIM:125851	gard_rare	MODY, type 2|MODY2|MODY type 2|type 2 maturity-onset diabetes of the young|GCK maturity-onset diabetes of the young (disease)|MODY glucokinase-related|maturity-onset diabetes of the young, type 2; MODY2|MODY, glucokinase-related|MODY 2 monogenic diabetes type 2|diabetes mellitus MODY type 2|maturity-onset diabetes of the young, type 2|maturity-onset diabetes of the young (disease) caused by mutation in GCK|GCK-associated diabetes mellitus|glucokinase-associated diabetes mellitus|maturity onset diabetes of the Young, type 2	http://purl.obolibrary.org/obo/MONDO_0007453	Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes.	SNOMEDCT:237604008|http://identifiers.org/omim/125851|DOID:0111100|NCIT:C129741
MONDO:0007450	neurohypophyseal diabetes insipidus	biolink:Disease	mondo	Orphanet:30925|ICD10:E23.2|DOID:12388|SCTID:45369008|OMIM:125700|NCIT:C84933	ordo_clinical_subtype	diabetes insipidus of pituitary gland|neurogenic diabetes insipidus|diabetes insipidus, neurohypophyseal|central diabetes insipidus|diabetes insipidus, cranial type|hereditary CDI|antidiuretic hormone deficiency|vasopressin defective diabetes insipidus|diabetes insipidus, primary central|hereditary central diabetes insipidus|pituitary diabetes insipidus|ADH deficiency|hereditary neurogenic diabetes insipidus|Arginine vasopressin deficiency|pituitary gland diabetes insipidus|neurogenic diabetes insipidus|vasopressin deficiency|AVP deficiency	http://purl.obolibrary.org/obo/MONDO_0007450	Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.	SNOMEDCT:45369008|NCIT:C84933|http://identifiers.org/omim/125700|ORPHA:30925|DOID:12388
MONDO:0007451	diabetes insipidus, nephrogenic, autosomal	biolink:Disease	mondo	OMIM:125800|UMLS:C1563706		diabetes insipidus, nephrogenic, type 2|diabetes insipidus, nephrogenic, autosomal	http://purl.obolibrary.org/obo/MONDO_0007451		UMLS:C1563706|http://identifiers.org/omim/125800
MONDO:0020409	univentricular heart with single atrio-ventricular valve	biolink:Disease	mondo	Orphanet:99069|ICD10:Q20.4	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0020409		ORPHA:99069
MONDO:0020408	complete atrioventricular canal-tetralogy of fallot syndrome	biolink:Disease	mondo	ICD10:Q21.2|Orphanet:99068|UMLS:CN207280	ordo_clinical_subtype	CAVC-Fallot tetralogy syndrome|CAVC type C|complete atrioventricular canal type C	http://purl.obolibrary.org/obo/MONDO_0020408		UMLS:CN207280|ORPHA:99068
GO:0030182	neuron differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0030182	The process in which a relatively unspecialized cell acquires specialized features of a neuron.	
MONDO:0020407	complete atrioventricular canal-ventricle hypoplasia syndrome	biolink:Disease	mondo	ICD10:Q21.2|UMLS:CN207279|Orphanet:99067	ordo_clinical_subtype	CAVC-ventricle hypoplasia syndrome|CAVC type B|complete atrioventricular canal type B	http://purl.obolibrary.org/obo/MONDO_0020407		UMLS:CN207279|ORPHA:99067
MONDO:0020406	complete atrioventricular canal-left heart obstruction syndrome	biolink:Disease	mondo	ICD10:Q21.2|UMLS:CN207278|Orphanet:99066	ordo_clinical_subtype	CAVC-left heart obstruction syndrome|CAVC type A|complete atrioventricular canal type A	http://purl.obolibrary.org/obo/MONDO_0020406		ORPHA:99066|UMLS:CN207278
MONDO:0019427	X-linked neurodegenerative syndrome, Bertini type	biolink:Disease	mondo	Orphanet:85334|SCTID:718849008|UMLS:CN206185|ICD10:G31.8	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019427	X-linked neurodegenerative syndrome, Bertini type is characterised by generalised hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter.	ORPHA:85334|UMLS:CN206185|SNOMEDCT:718849008
MONDO:0020405	straddling and/or overriding mitral valve	biolink:Disease	mondo	ICD10:Q23.8|Orphanet:99064	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0020405		ORPHA:99064
MONDO:0019426	X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome	biolink:Disease	mondo	ICD10:Q87.8|Orphanet:85330|GARD:0012489|UMLS:CN206182	ordo_disease	X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis	http://purl.obolibrary.org/obo/MONDO_0019426	X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome is characterised by intellectual and motor deficit, spastic quadriparesis and agenesis of the corpus callosum, without craniofacial abnormalities or seizures. It has been described in four male members of a family. The mode of inheritance is most likely X-linked recessive.	ORPHA:85330|UMLS:CN206182
MONDO:0020404	shone complex	biolink:Disease	mondo	SCTID:41371000119100|MedDRA:10066802|UMLS:C1868705|ICD10:Q23.8|ICD9:746.84|NCIT:C99058|Orphanet:99063	ordo_malformation_syndrome	shone syndrome|shone's syndrome (greater than 3 sites)	http://purl.obolibrary.org/obo/MONDO_0020404	A congenital cardiovascular abnormality characterized by the presence of subvalvar left ventricular outflow tract obstruction, coarctation of the aorta, and mitral stenosis.	SNOMEDCT:41371000119100|ORPHA:99063|MEDDRA:10066802|NCIT:C99058|UMLS:C1868705
MONDO:0019429	X-linked neurodegenerative syndrome, Hamel type	biolink:Disease	mondo	ICD10:G31.8|Orphanet:85336|UMLS:CN206187|SCTID:718847005	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019429	X-linked neurodegenerative syndrome, Hamel type is an X-linked neurodegenerative disorder characterised by intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12.	ORPHA:85336|SNOMEDCT:718847005|UMLS:CN206187
MONDO:0020403	congenital mitral valve agenesis	biolink:Disease	mondo	ICD10:Q23.3|Orphanet:99062	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0020403	Mitral valve agenesis is a rare congenital heart malformation defined as an agenesis or severe hypoplasia of both mitral valve leaflets (complete agenesis) or one of the leaflets (partial agenesis). Complete mitral valve agenesis presents in the neonatal period with symptoms of severe mitral regurgitation and is rapidly fatal unless surgically treated. It is frequently associated with other heart malformations. Partial mitral valve agenesis may present at various ages, usually with symptoms of mitral regurgitation.	ORPHA:99062
MONDO:0020402	congenital accessory mitral valve tissue	biolink:Disease	mondo	ICD10:Q23.8|Orphanet:99061	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0020402	Accessory mitral valve tissue is a congenital non-syndromic heart malformation defined as an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. The malformation may be isolated or associated with other congenital heart malformations.	ORPHA:99061
MONDO:0019428	fried syndrome	biolink:Disease	mondo	SCTID:718848000|UMLS:C4305134|Orphanet:85335|ICD10:Q87.8|UMLS:CN206186	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0019428	Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies.	SNOMEDCT:718848000|ORPHA:85335|UMLS:CN206186|UMLS:C4305134
MONDO:0019423	X-linked intellectual disability, Stoll type	biolink:Disease	mondo	UMLS:CN206179|ICD10:Q87.8|SCTID:718911005|Orphanet:85326	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0019423	X-linked intellectual disability, Stoll type is characterised by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked.	SNOMEDCT:718911005|UMLS:CN206179|ORPHA:85326
MONDO:0019422	X-linked intellectual disability, Stevenson type	biolink:Disease	mondo	SCTID:718909001|ICD10:Q87.8|UMLS:CN206178|Orphanet:85325	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0019422	An X-linked syndromic intellectual disability characterised by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome.	UMLS:CN206178|ORPHA:85325|SNOMEDCT:718909001
MONDO:0019425	X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome	biolink:Disease	mondo	ICD10:Q87.8|Orphanet:85329|UMLS:CN206181	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0019425	X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome is characterised by severe intellectual deficit, hypotonia, mild facial dysmorphism, and aggressive behaviour. It has been described in 10 male members spanning four generations of one family. The facial dysmorphism includes a high forehead, prominent ears, and a small pointed chin. Height and head circumference are reduced. This disorder is transmitted as an X-linked recessive trait and the causative gene maps to Xp22.	ORPHA:85329|UMLS:CN206181
MONDO:0019424	X-linked intellectual disability-acromegaly-hyperactivity syndrome	biolink:Disease	mondo	UMLS:CN227631|ICD10:Q87.8|Orphanet:85327	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019424	X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region.	ORPHA:85327|UMLS:CN227631
MONDO:0019421	X-linked intellectual disability, Seemanova type	biolink:Disease	mondo	Orphanet:85323|ICD10:Q87.8|UMLS:CN227630|SCTID:718897009	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019421	X-linked intellectual disability, Seemanova type is characterised by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked.	SNOMEDCT:718897009|UMLS:CN227630|ORPHA:85323
GO:0030183	B cell differentiation	biolink:OntologyClass	mondo			B-lymphocyte differentiation|B cell development|B-cell differentiation|B lymphocyte differentiation	http://purl.obolibrary.org/obo/GO_0030183	The process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity.	
MONDO:0019420	X-linked intellectual disability, Pai type	biolink:Disease	mondo	ICD10:Q87.8|Orphanet:85322|UMLS:CN206176|SCTID:719011002	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0019420	X-linked intellectual disability, Pai type is characterised by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localised to the q28 region of the X chromosome.	UMLS:CN206176|SNOMEDCT:719011002|ORPHA:85322
MONDO:0020481	myotonia fluctuans	biolink:Disease	mondo	NCIT:C122789|ICD10:G71.1|SCTID:715788001|UMLS:C0752355|Orphanet:99734	ordo_disease	Fluctuating myotonia|exercise-induced delayed-onset myotonia|MF	http://purl.obolibrary.org/obo/MONDO_0020481	Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.	SNOMEDCT:715788001|NCIT:C122789|ORPHA:99734|UMLS:C0752355
MONDO:0019492	obsolete desmoid tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019492		
MONDO:0020480	sulfite oxidase deficiency due to molybdenum cofactor deficiency	biolink:Disease	mondo	GARD:0003705|Orphanet:99732|OMIMPS:252150|DOID:0111165|ICD10:E72.1	ordo_clinical_subtype	combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase|molybdenum cofactor deficiency|combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase|MOCOD	http://purl.obolibrary.org/obo/MONDO_0020480		ORPHA:99732|DOID:0111165
MONDO:0019491	obsolete rare intellectual disability	biolink:Disease	mondo	UMLS:CN227638|Orphanet:87277	ordo_group_of_disorders|obsoletion_candidate	rare intellectual disability	http://purl.obolibrary.org/obo/MONDO_0019491	Rare intellectual disability.	ORPHA:87277|UMLS:CN227638
MONDO:0019494	primary pediatric heart tumor	biolink:Disease	mondo	UMLS:CN206281|Orphanet:875|ICD10:D15.1|ICD10:C38.0	ordo_disease	pediatric heart neoplasm|heart tumor of child|Cardiac tumor of child	http://purl.obolibrary.org/obo/MONDO_0019494	Cardiac tumours are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic.	ORPHA:875|UMLS:CN206281
MONDO:0019493	primary adult heart tumor	biolink:Disease	mondo	UMLS:CN206280|ICD10:D15.1|Orphanet:874|SCTID:715403006|ICD10:C38.0|UMLS:C4275152	ordo_disease	adult heart tumor|adult cardiac tumor	http://purl.obolibrary.org/obo/MONDO_0019493	Adult heart tumor refers to neoplasms of the heart that manifest in adults and generally present with a variety of non-specific manifestations (depending on tumor site and infiltration) such as weight loss, exhaustion, hemorrhagic pericardial effusion, heart failure, arrhythmias, and embolisms, or that can also be asymptomatic. In adults 75% of heart tumors are benign, with myxoma being the most common benign tumor (accounting for 50-70% of all primary heart tumors) and rhabdomyosarcoma comprising 75% of malignant heart tumors. Other malignant tumors of the heart include fibrosarcoma and leiomyosarcoma (see these terms).	ORPHA:874|UMLS:CN206280|UMLS:C4275152|SNOMEDCT:715403006
MONDO:0019490	progressive familial heart block	biolink:Disease	mondo	DOID:0111073|ICD9:426.6|Orphanet:871|DC:0000374|OMIMPS:113900|ICD10:I45.8|UMLS:CN206278|SCTID:93130009|SCTID:698249005|GARD:0010005	ordo_disease	PFHB|familial progressive cardiac conduction defect|familial progressive heart block|familial Lev-Lenegre disease|hereditary bundle branch defect|familial Lenegre disease|familial Lev disease|familial PCCD|familial Lenègre disease|familial Lev-Lenègre disease	http://purl.obolibrary.org/obo/MONDO_0019490	Familial progressive cardiac conduction defect (PCCD) is a hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.	DOID:0111073|SNOMEDCT:93130009|SNOMEDCT:698249005|ORPHA:871|UMLS:CN206278
MONDO:0020489	familial hyperreninemic hypoaldosteronism type 1	biolink:Disease	mondo	Orphanet:99763|UMLS:C4289986|DOID:0080626|ICD10:E27.4	ordo_etiological_subtype	FHHA1|CMO I|CMO II|corticosterone methyloxidase deficiency type I|18-hydroxylase deficiency|aldosterone synthase deficiency|18-oxidase deficiency	http://purl.obolibrary.org/obo/MONDO_0020489		DOID:0080626|UMLS:C4289986|ORPHA:99763
MONDO:0020488	atypical progressive supranuclear palsy syndrome	biolink:Disease	mondo	Orphanet:99750|ICD10:G23.1	ordo_clinical_subtype	atypical PSP syndrome	http://purl.obolibrary.org/obo/MONDO_0020488	Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA).	UMLS:C1850077|ORPHA:99750
MONDO:0020487	Pontiac fever	biolink:Disease	mondo	MedDRA:10054161|SCTID:240447002|ICD9:041.89|DOID:0050150|ICD10:A48.2|UMLS:C0343528|Orphanet:99748|NCIT:C128335	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0020487	Pontiac fever (PF) is a mild form of legionellosis manifesting with flu-like symptoms such as nausea, myalgia, fever, cough and headache but without pneumonia.	UMLS:C0343528|MEDDRA:10054161|SNOMEDCT:240447002|ORPHA:99748|DOID:0050150|NCIT:C128335
MONDO:0020486		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0020486		
MONDO:0020485	King-Denborough syndrome	biolink:Disease	mondo	MESH:C536883|GARD:0008433|SCTID:764957003|Orphanet:99741|ICD10:G71.2|GARD:0008561|MESH:C537504	ordo_malformation_syndrome|gard_rare	anesthetic-induced malignant hyperpyrexia in children|Kousseff Nichols syndrome|King Denborough syndrome|Koussef-Nichols syndrome|Noonan like contracture myopathy hyperpyrexia	http://purl.obolibrary.org/obo/MONDO_0020485	King-Denborough syndrome is a rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use.	MESH:C536883|UMLS:C1840365|SNOMEDCT:764957003|ORPHA:99741|MESH:C537504
MONDO:0020484	rare familial disorder with hypertrophic cardiomyopathy	biolink:Disease	mondo	Orphanet:99739	ordo_group_of_disorders|obsoletion_candidate	rare familial disorder with hypertrophic obstructive cardiomyopathy|rare familial disorder with hypertrophic subaortic stenosis	http://purl.obolibrary.org/obo/MONDO_0020484		MESH:D024741|UMLS:C0949658|ORPHA:99739
MONDO:0020483	acetazolamide-responsive myotonia	biolink:Disease	mondo	SCTID:715793003|ICD10:G71.1|Orphanet:99736	ordo_disease	painful myotonia|ACZ-responsive myotonia|Acetazolamide-responsive congenital myotonia|ACZ-responsive congenital myotonia|painful congenital myotonia|myotonia-painful contractions syndrome	http://purl.obolibrary.org/obo/MONDO_0020483	Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ).	SNOMEDCT:715793003|ORPHA:99736
MONDO:0020482	myotonia permanens	biolink:Disease	mondo	SCTID:715789009|UMLS:CN207354|ICD10:G71.1|Orphanet:99735	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0020482	Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM).	SNOMEDCT:715789009|ORPHA:99735|UMLS:CN207354
MONDO:0020479	pituitary gigantism	biolink:Disease	mondo	Orphanet:99725|GARD:0006506|SCTID:86073008|MedDRA:10018265|NCIT:C93046|MESH:D005877|ICD10:E22.0	ordo_disease	infantile and juvenile forms of acromegaly|hypophyseal gigantism|gigantism	http://purl.obolibrary.org/obo/MONDO_0020479	The condition of accelerated and excessive growth in children or adolescents who are exposed to excess human growth hormone before the closure of epiphyses. It is usually caused by somatotroph hyperplasia or a growth hormone-secreting pituitary adenoma. These patients are of abnormally tall stature, more than 3 standard deviations above normal mean height for age.	MEDDRA:10018265|ORPHA:99725|SNOMEDCT:86073008|MESH:D005877|UMLS:C0017547|NCIT:C93046
MONDO:0019499	Turner syndrome	biolink:Disease	mondo	ICD10:Q96.2|UMLS:C0041408|ICD10:Q96.1|SCTID:38804009|ICD10:Q96|NCIT:C26900|GARD:0002459|MESH:D014424|GARD:0002458|ICD10:Q96.0|GARD:0002540|ICD10:Q96.8|GARD:0007831|MedDRA:10045181|Orphanet:881|ICD9:758.7|ICD10:Q96.4|COHD:4307885|DOID:3491|ICD10:Q96.3|ICD10:Q96.9	gard_rare|ordo_malformation_syndrome	monosomy X|45,X0 syndrome|karyotype 45, X|gonadal dysgenesis Turner type|genital dwarfism|monosomy X syndrome|Turner Varny syndrome|45X syndrome|45,X gonadal dysgenesis|chromosome X monosomy X|45,X/46,XX syndrome|gonadal dysgenesis - Turner|gonadal dysgenesis|gonadal dysgenesis (45,X)|45, X syndrome|Schereshevkii Turner syndrome|45,X syndrome|Bonnevie-Ullrich syndrome|Bonnevie-Ulrich syndrome|XO syndrome|Ullrich-Turner syndrome|genital dwarfism, Turner type	http://purl.obolibrary.org/obo/MONDO_0019499	Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome.	MESH:D014424|UMLS:C0041408|SNOMEDCT:38804009|ORPHA:881|DOID:3491|MEDDRA:10045181|NCIT:C26900
MONDO:0019496	neuroendocrine neoplasm	biolink:Disease	mondo	SCTID:255046005|ICD9:209-209.99|ICD9:209|ICD9:239.7|NCIT:C3809|MESH:D018358|Orphanet:877|ICD10:D3A.8|UMLS:C0003650|COHD:434300|DOID:169|EFO:1001901|UMLS:C0206754|UMLS:CN206284	ordo_group_of_disorders	APUDoma|neuroendocrine tumor|neuroendocrine neoplasm	http://purl.obolibrary.org/obo/MONDO_0019496	Endocrine tumours, also referred to as neuroendocrine tumours (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumours may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumours or for a clinical syndrome caused by abnormal hormone secretion).	NCIT:C3809|DOID:169|SNOMEDCT:255046005|ORPHA:877|UMLS:C0206754|UMLS:CN206284|MESH:D018358|UMLS:C0003650
MONDO:0019495	obsolete yolk sac tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019495		
MONDO:0019498	tungiasis	biolink:Disease	mondo	ICD9:134.1|EFO:1001445|ICD10:B88.1|Orphanet:879|MESH:D058285|SCTID:64612002|UMLS:C0277356|DOID:0050266|GARD:0000393	ordo_disease|gard_rare	Sarcopsylla penetrans|Tunga penetrans infectious disease|Tunga penetrans|Tunga penetrans caused disease or disorder|chigger flea|T penetrans|S penetrans|Tunga penetrans disease or disorder	http://purl.obolibrary.org/obo/MONDO_0019498	An disease or disorder caused by infection with Tunga penetrans.	DOID:0050266|UMLS:C0277356|ORPHA:879|SNOMEDCT:64612002|MESH:D058285
HGNC:20509	ZC3H14	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20509		
MONDO:0019497	nonsyndromic genetic deafness	biolink:Disease	mondo	ICD10:H90.5|EFO:0009076|DOID:0050563|Orphanet:87884|UMLS:CN043648|GARD:0006410|MESH:C580334	gard_rare|ordo_group_of_disorders	nonsyndromic hearing loss|non-syndromic genetic deafness|nonsyndromic hearing loss|familial deafness|isolated genetic deafness|nonsyndromic deafness|nonsyndromic hereditary hearing loss	http://purl.obolibrary.org/obo/MONDO_0019497	A disease characterized by hearing loss that is not part of a larger syndrome.	ORPHA:87884|DOID:0050563|UMLS:CN043648|MESH:C580334
MONDO:0020470	49,XYYYY syndrome	biolink:Disease	mondo	UMLS:C4518342|UMLS:CN207332|SCTID:734028007|Orphanet:99330|ICD10:Q98.8	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0020470	49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults.	UMLS:CN207332|SNOMEDCT:734028007|UMLS:C4518342|ORPHA:99330
MONDO:0019481	obsolete follicular dendritic cell sarcoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019481		
MONDO:0019480	Langerhans cell sarcoma	biolink:Disease	mondo	ICD10:C96.4|Orphanet:86897|ICDO:9756/3|MESH:D054752|DOID:7146|NCIT:C6921|SCTID:724649000|EFO:0007336|GARD:0010491|UMLS:C1260327|ONCOTREE:LCS	gard_rare|ordo_disease	sarcoma of Langerhans cell|LCS|Langerhans cell sarcoma|malignant Langerhans cell sarcoma	http://purl.obolibrary.org/obo/MONDO_0019480	A neoplastic proliferation of Langerhans cells with overtly malignant cytologic features. It can be considered a higher grade variant of Langerhans cell histiocytosis (LCH) and it can present de novo or progress from antecedent LCH. (WHO, 2001)	SNOMEDCT:724649000|ORPHA:86897|MESH:D054752|NCIT:C6921|DOID:7146|UMLS:C1260327
MONDO:0019483	methotrexate-associated lymphoproliferative disorders	biolink:Disease	mondo	DOID:5821|NCIT:C7184|UMLS:C1334749|UMLS:CN206264|Orphanet:86904	ordo_disease	MTX-associated lymphoproliferative disorders|methotrexate-associated lymphoproliferation|MTX-LPD|methotrexate-associated lymphoproliferative disorder	http://purl.obolibrary.org/obo/MONDO_0019483	Methotrexate-associated lymphoproliferative disorders are rare immunodeficiency-associated lymphoproliferative diseases characterized by lymphoid proliferation or lymphomas (large B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, reactive lymphadenitis and a polymorphic post-transplant lymphoproliferative disorder) that develop in patients with different autoimmune diseases treated with methotrexate. Swelling is the predominant manifestation of the disease and regression after methotrexate withdrawal is observed in a significant proportion of patients.	UMLS:C1334749|ORPHA:86904|DOID:5821|NCIT:C7184|UMLS:CN206264
MONDO:0019482	dendritic cell sarcoma not otherwise specified	biolink:Disease	mondo	ICD10:C96.4|Orphanet:86903	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019482		ORPHA:86903|UMLS:C1301364
MONDO:0020478	Leber plus disease	biolink:Disease	mondo	UMLS:CN207347|ICD10:H47.2|DOID:0111754|UMLS:C4304725|SCTID:719430008|Orphanet:99718	ordo_disease	LHON plus disease	http://purl.obolibrary.org/obo/MONDO_0020478	Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations.	ORPHA:99718|UMLS:CN207347|UMLS:C4304725|SNOMEDCT:719430008|DOID:0111754
MONDO:0020477	progeria-associated arthropathy	biolink:Disease	mondo	Orphanet:99706	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0020477		ORPHA:99706
MONDO:0020476	mesial temporal lobe epilepsy with hippocampal sclerosis	biolink:Disease	mondo	Orphanet:99701	ordo_disease	MTLE-HS	http://purl.obolibrary.org/obo/MONDO_0020476	Mesial temporal lobe epilepsy with hippocampal sclerosis is a rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or assymetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits.	ORPHA:99701
MONDO:0020475	dermotrichic syndrome	biolink:Disease	mondo	Orphanet:99688|UMLS:CN207344	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0020475		UMLS:CN207344|ORPHA:99688
MONDO:0020474	cheirospondyloenchondromatosis	biolink:Disease	mondo	Orphanet:99647|UMLS:C4510810|SCTID:725104005	ordo_disease	generalized enchondromatosis with platyspondyly	http://purl.obolibrary.org/obo/MONDO_0020474	Cheirospondyloenchondromatosis is an extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) characterized by symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellectual disability.	SNOMEDCT:725104005|UMLS:C4510810|ORPHA:99647
NCBITaxon:29105	Calomys	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_29105		
MONDO:0020473	dappled diaphyseal dysplasia	biolink:Disease	mondo	ICD9:756.59|SCTID:389262009|Orphanet:99645|UMLS:C1300227|ICD10:Q77.3	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0020473		UMLS:C1300227|SNOMEDCT:389262009|ORPHA:99645
MONDO:0020472	Turner syndrome due to structural X chromosome anomalies	biolink:Disease	mondo	ICD10:Q96.1|UMLS:CN207336|Orphanet:99413|ICD10:Q96.2	ordo_etiological_subtype		http://purl.obolibrary.org/obo/MONDO_0020472		UMLS:CN207336|ORPHA:99413
MONDO:0020471	obsolete pituitary adenoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0020471		
MONDO:0020469	48,XYYY syndrome	biolink:Disease	mondo	UMLS:C4518082|Orphanet:99329|SCTID:733625003|ICD10:Q98.8|UMLS:CN207331|GARD:0011985	ordo_malformation_syndrome	48,XYYY	http://purl.obolibrary.org/obo/MONDO_0020469	48,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males.	ORPHA:99329|SNOMEDCT:733625003|UMLS:CN207331|UMLS:C4518082
MONDO:0020468	paternal uniparental disomy of chromosome 13	biolink:Disease	mondo	ICD10:Q99.8|Orphanet:99324	ordo_malformation_syndrome	paternal uniparental disomy of chromosome type 13|UPD(13)pat	http://purl.obolibrary.org/obo/MONDO_0020468	Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.	ORPHA:99324
MONDO:0019489	diffuse palmoplantar keratoderma - acrocyanosis syndrome	biolink:Disease	mondo	UMLS:CN206272|ICD10:Q82.8|Orphanet:86918	ordo_disease	diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome	http://purl.obolibrary.org/obo/MONDO_0019489	Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterised by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant.	ORPHA:86918|UMLS:CN206272
FOODON:03411261	fungus	biolink:OntologyClass	mondo			fungi	http://purl.obolibrary.org/obo/FOODON_03411261	A member of the group of eukaryotic organisms in the kingdom Fungi that includes unicellular microorganisms such as yeasts and molds, as well as multicellular fungi that produce familiar fruiting forms known as mushrooms.	
MONDO:0019488	myoclonic epilepsy in non-progressive encephalopathies	biolink:Disease	mondo	ICD10:G40.4|Orphanet:86913	ordo_malformation_syndrome	myoclonic status in non-progressive encephalopathies|myoclonus epilepsy in non-progressive encephalopathies	http://purl.obolibrary.org/obo/MONDO_0019488		ORPHA:86913
MONDO:0019485	idiopathic hemiconvulsion-hemiplegia syndrome	biolink:Disease	mondo	Orphanet:86908|SCTID:230407006|ICD10:G40.4	ordo_disease	IHHS|HHE syndrome|hemiconvulsion-hemiplegia-epilepsy syndrome	http://purl.obolibrary.org/obo/MONDO_0019485		UMLS:C0549118|ORPHA:86908|SNOMEDCT:230407006
MONDO:0019484	hypothalamic hamartomas with gelastic seizures	biolink:Disease	mondo	ICD10:G40.5|Orphanet:86906	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019484	Hypothalamic hamartomas with gelastic seizures is a rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty.	ORPHA:86906
MONDO:0019487	epilepsy with myoclonic absences	biolink:Disease	mondo	Orphanet:86911|SCTID:230422001|ICD10:G40.4	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019487		ORPHA:86911|SNOMEDCT:230422001
MONDO:0019486	myoclonic epilepsy of infancy	biolink:Disease	mondo	ICD10:G40.3|Orphanet:86909|UMLS:CN206266	ordo_disease	benign myoclonus epilepsy of infancy|benign myoclonic epilepsy of infancy	http://purl.obolibrary.org/obo/MONDO_0019486		ORPHA:86909|UMLS:C0751120|UMLS:CN206266
GO:0030162	regulation of proteolysis	biolink:OntologyClass	mondo			regulation of peptidolysis	http://purl.obolibrary.org/obo/GO_0030162	Any process that modulates the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein.	
MONDO:0019470	aggressive NK-cell leukemia	biolink:Disease	mondo	UMLS:C1292777|ICDO:9948/3|ICD10:C94.8|MedDRA:10028811|ICD10:C94.7|DOID:1035|Orphanet:86873|GARD:0010493|SCTID:721310007|NCIT:C8647|ONCOTREE:ANKL	gard_rare|ordo_disease	NK-cell leukemia|ANKCL|aggressive NK-cell lymphoma|leukemia (disease) of natural killer cell|NK-cell large granular lymphocyte leukemia|NK cell leukemia|aggressive NK cell leukemia|aggressive NK-cell leukemia|ANKL|NK-cell LGL leukemia|aggressive NK-cell leukemia (morphologic abnormality)|aggressive NK-cell leukemia/lymphoma|natural killer cell leukemia (disease)|large granular lymphocyte leukemia, NK-cell type|aggressive natural killer cell leukemia|natural Killer cell leukemia|natural killer cell leukemia	http://purl.obolibrary.org/obo/MONDO_0019470	A rare, highly aggressive, Epstein-Barr virus-associated leukemia, also known as aggressive NK-cell leukemia/lymphoma; it may represent the leukemic counterpart of nasal type extranodal NK/T-cell lymphomas. It affects primarily teenagers and young adults. It is characterized by the systemic proliferation of NK cells in the peripheral blood, bone marrow, liver, and spleen.	SNOMEDCT:721310007|ORPHA:86873|NCIT:C8647|DOID:1035|MEDDRA:10028811|UMLS:C1292777
MONDO:0019472	extranodal nasal NK/T cell lymphoma	biolink:Disease	mondo	Orphanet:86879|NCIT:C4684|ICD10:C86.0|ICDO:9719/3|GARD:0013270|MedDRA:10065855|UMLS:C0392788	ordo_disease	reticulosis, malignant|NKTCL|lethal midline granuloma|Extranodal NK/T lymphoma-nasal|Extranodal NK/T-cell lymphoma, nasal type|angiocentric T-cell lymphoma|nasal type Extranodal NK/T-cell lymphoma|nasal T/natural killer-cell lymphoma|NK/T-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0019472	Extranodal nasal NK/T cell lymphoma (NKTCL) is a rare, malignant neoplasm mainly affecting men in the fifth decade of life, that usually arises in the nose, paranasal sinuses, orbits or upper airway, and that can present with a nasal mass, nasal bleeding, nasal obstruction, palate perforation (i.e. midline perforation of the hard palate), and mid-facial and/or upper airway destructive lesions. In advanced disease stages, which are associated with a poor prognosis, NKTCL may disseminate to other organs. A few cases of NKTCL presenting primarily in the lymph nodes have also been described.	UMLS:C0392788|MEDDRA:10065855|MESH:D054391|ORPHA:86879|NCIT:C4684
NCBITaxon:1868215	Orthopneumovirus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1868215		
MONDO:0019471	adult T-cell leukemia/lymphoma	biolink:Disease	mondo	MedDRA:10001413|ICD9:204.80|NCIT:C3184|GARD:0013103|DOID:0050523|Orphanet:86875|ONCOTREE:ATLL|ICDO:9827/3|UMLS:C0023493|ICD10:C91.50|ICD10:C91.5|SCTID:110007008	ordo_disease	adult T-cell leukemia|adult T-cell lymphoma|adult T-cell leukaemia/lymphoma (HTLV-1 positive)|HTLV-1 associated adult T-cell lymphoma/leukemia|HTLV-I associated adult T-cell leukemia/lymphoma|T-cell leukemia of adults|adult T cell lymphoma/leukemia|ATLL|adult T-cell leukemia|adult T-cell lymphoma/leukemia|adult T-cell leukemia/lymphoma|adult T-cell leukaemia	http://purl.obolibrary.org/obo/MONDO_0019471	A peripheral (mature) T-cell neoplasm linked to the human T-cell leukemia virus type 1 (HTLV-1), adult T-cell leukemia/lymphoma is endemic in several regions of the world, in particular Japan, the Caribbean, and parts of Central Africa.	MESH:D015459|ORPHA:86875|DOID:0050523|UMLS:C0023493|MEDDRA:10001413|NCIT:C3184|SNOMEDCT:110007008
MONDO:0007489	dysplasia epiphysealis hemimelica	biolink:Disease	mondo	Orphanet:1822|OMIM:127800|ICD10:Q74.8|MESH:C537997|GARD:0002019|ICD9:756.59|SCTID:205480005|UMLS:C0432282	ordo_malformation_syndrome|gard_rare	Trevor disease|dysplasia epiphysealis hemimelica	http://purl.obolibrary.org/obo/MONDO_0007489	Dysplasia epiphysealis hemimelica (DEH), or Trevor's disease, is a rarecondition that most commonly affects the epiphysis (the end) of long bones in children.Early diagnosis and treatment are necessary to prevent jointdysfunction and deformity and may be surgical or non-surgical depending on the location and the symptoms. Due to the progressive nature of this disorder and the chance of worsening deformity, patients should be followed until skeletal maturity.Thecause ofdysplasia epiphysealis hemimelica is not known.	http://identifiers.org/omim/127800|ORPHA:1822|SNOMEDCT:205480005|MESH:C537997|UMLS:C0432282
GO:0042101	T cell receptor complex	biolink:OntologyClass	mondo			T-lymphocyte receptor complex|TCR complex|T lymphocyte receptor complex|T-cell receptor complex|TCR	http://purl.obolibrary.org/obo/GO_0042101	A protein complex that contains a disulfide-linked heterodimer of T cell receptor (TCR) chains, which are members of the immunoglobulin superfamily, and mediates antigen recognition, ultimately resulting in T cell activation. The TCR heterodimer is associated with the CD3 complex, which consists of the nonpolymorphic polypeptides gamma, delta, epsilon, zeta, and, in some cases, eta (an RNA splice variant of zeta) or Fc epsilon chains.	
MONDO:0020467	mosaic monosomy X	biolink:Disease	mondo	ICD10:Q96.4|Orphanet:99228|ICD10:Q96.3|SCTID:710010005|UMLS:C4040907|UMLS:CN776903	ordo_etiological_subtype	Mosaic monosomy type X|XX/XO|Mosaic Turner syndrome	http://purl.obolibrary.org/obo/MONDO_0020467		SNOMEDCT:710010005|UMLS:CN776903|UMLS:C4040907|ORPHA:99228
MONDO:0020466	monosomy X	biolink:Disease	mondo	ICD10:Q96.9|Orphanet:99226|NCIT:C36630|UMLS:CN776902|SCTID:710008008	ordo_etiological_subtype	monosomy type X	http://purl.obolibrary.org/obo/MONDO_0020466		SNOMEDCT:710008008|UMLS:CN776902|NCIT:C36630|ORPHA:99226
MONDO:0007487	dyslexia, susceptibility to, 1	biolink:Disease	mondo	OMIM:127700	predisposition	DYX1|Word-blindness, congenital|dyslexia, susceptibility to, 7|dyslexia, susceptibility to, 1; DYX1|dyslexia, susceptibility to, 4|dyslexia, susceptibility to, type 1|dyslexia, susceptibility to, 1|susceptibility to dyslexia 1|reading disability, specific, 1	http://purl.obolibrary.org/obo/MONDO_0007487		http://identifiers.org/omim/127700
MONDO:0020465	congenital eyelid retraction	biolink:Disease	mondo	ICD10:Q10.3|SCTID:715769008|Orphanet:99176	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0020465	Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips.	ORPHA:99176|SNOMEDCT:715769008
MONDO:0020464	euryblepharon	biolink:Disease	mondo	ICD10:Q10.1|UMLS:CN207327|SCTID:400954002|Orphanet:99172	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0020464	Euryblepharon is a rare congenital eyelid anomaly of unknown etiology characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment.	UMLS:CN207327|SNOMEDCT:400954002|ORPHA:99172
MONDO:0007488	Lewy body dementia	biolink:Disease	mondo	COHD:380701|EFO:0006792|UMLS:C0752347|NCIT:C84826|ICD10:G31.83|ICD9:331.82|OMIM:127750|SCTID:312991009|DOID:12217|GARD:0003243		Lewy body disease|dementia, Lewy body; DLB|dementia, Lewy body|DLB|Lewy body dementia|diffuse Lewy body disease|diffuse Lewy body disease with gaze palsy|Lewy body variant of Alzheimer disease|dementia with Lewy bodies|Senile dementia of the Lewy body type	http://purl.obolibrary.org/obo/MONDO_0007488	A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease.	NCIT:C84826|http://identifiers.org/omim/127750|SNOMEDCT:312991009|UMLS:C0752347|DOID:12217
GO:0044763		biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0044763		
MONDO:0007485	dyskeratosis congenita, autosomal dominant 1	biolink:Disease	mondo	GARD:0006299|SCTID:707273001|DOID:0070014|MESH:C565079|OMIM:127550	gard_rare|prototype_pattern	DKCA|autosomal dominant dyskeratosis congenita 1|dyskeratosis congenita, autosomal dominant 1; DKCA1|dyskeratosis congenita, autosomal dominant 1|dyskeratosis congenita, autosomal dominant type 1|dyskeratosis congenita, Scoggins type|DKCA1|autosomal dominant dyskeratosis congenita|dyskeratosis congenita autosomal dominant|dyskeratosis congenita Scoggins type	http://purl.obolibrary.org/obo/MONDO_0007485	A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERC on chromosome 3q26.2.	DOID:0070014|http://identifiers.org/omim/127550|SNOMEDCT:707273001|MESH:C565079
MONDO:0020463	isolated congenital ectropion	biolink:Disease	mondo	ICD10:Q10.1|Orphanet:99171	ordo_morphological_anomaly	nonsyndromic congenital ectropion	http://purl.obolibrary.org/obo/MONDO_0020463	A congenital ectropion that is not part of a larger syndrome.	ORPHA:99171
MONDO:0020462	tarsal kink syndrome	biolink:Disease	mondo	Orphanet:99170|UMLS:CN207325	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0020462	Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery.	UMLS:CN207325|ORPHA:99170
MONDO:0007486	hereditary benign intraepithelial dyskeratosis	biolink:Disease	mondo	OMIM:127600|NCIT:C3940|SCTID:400014002|ICD10:Q82.8|MESH:C562551|Orphanet:352657|UMLS:C0265966	ordo_disease	HBID|hereditary benign corneal intraepithelial dyskeratosis|dyskeratosis, hereditary benign intraepithelial; HBID|dyskeratosis, hereditary benign intraepithelial|Witkop-Von Sallmann disease|Dkbi	http://purl.obolibrary.org/obo/MONDO_0007486	A rare genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance. It was initially described among Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina. It is caused by a duplication of chromosomal DNA at 4q35. Clinical signs present in early childhood and include asymptomatic plaques of the epibulbar conjunctivae and oral mucosa. Clinical progression of the plaques to malignancy has not been reported.	http://identifiers.org/omim/127600|SNOMEDCT:400014002|ORPHA:352657|NCIT:C3940|UMLS:C0265966|MESH:C562551
MONDO:0007483	dyschromatosis symmetrica hereditaria	biolink:Disease	mondo	NCIT:C118435|ICD10:L81.8|UMLS:C0406775|Orphanet:41|MESH:C535729|DOID:0060257|SCTID:239085000|EFO:0008878|GARD:0000334|OMIM:127400	ordo_disease	dyschromatosis symmetrica hereditaria; DSH|RAD|familial reticulate acropigmentation of Dohi|DSH|acropigmentation of Dohi|dyschromatosis symmetrica hereditaria 1|symmetric dyschromatosis of the extremities|dyschromatosis symmetrica hereditaria|DSH1|reticulate acropigmentation of Dohi	http://purl.obolibrary.org/obo/MONDO_0007483	Acropigmentation of Dohi is a genodermatosis characterised by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs.	http://identifiers.org/omim/127400|NCIT:C118435|UMLS:C0406775|SNOMEDCT:239085000|DOID:0060257|MESH:C535729|ORPHA:41
MONDO:0020461	epiblepharon	biolink:Disease	mondo	ICD10:Q10.3|SCTID:253212001|Orphanet:99169|ICD9:743.63	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0020461		SNOMEDCT:253212001|ORPHA:99169
MONDO:0007484	obsolete dyschromatosis universalis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0007484		
MONDO:0020460	acquired von willebrand syndrome	biolink:Disease	mondo	MedDRA:10069495|GARD:5573|ICD10:D68.4|Orphanet:99147|GARD:0005573|DOID:0111146|PMID:28028990|SCTID:234451005|MEDDRA:10069495|UMLS:C0272362	ordo_disease|gard_rare	acquired von Willebrand disease|acquired von Willebrand disease (hereditary or acquired)|AVWS|acquired von willebrand disease|Willebrand disease, acquired	http://purl.obolibrary.org/obo/MONDO_0020460	Acquired von Willebrand syndrome (AVWS) is a bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies.	DOID:0111146|MEDDRA:10069495|UMLS:C0272362|ORPHA:99147|SNOMEDCT:234451005
MONDO:0007481	Leri-Weill dyschondrosteosis	biolink:Disease	mondo	SCTID:17818006|ICD10:Q77.8|ICD9:756.59|Orphanet:240|GARD:0003224|NCIT:C126560|OMIM:127300|UMLS:C0265309|DOID:0060847	ordo_malformation_syndrome|gard_rare	Léri-Weill syndrome|LC)ri-Weill dyschondrosteosis|Leri-Weill syndrome|LC)ri-Weill syndrome|Léri-Weill dyschondrosteosis|Leri-Weill dyschondrosteosis; LWD|DCo|LWD|Madelung deformity|Leri-Weill dyschondrosteosis|Leri Weill dyschondrosteosis|dyschondrosteosis	http://purl.obolibrary.org/obo/MONDO_0007481	LC)ri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity.	MESH:C537119|ORPHA:240|UMLS:C0265309|SNOMEDCT:17818006|NCIT:C126560|DOID:0060847|http://identifiers.org/omim/127300
MONDO:0007482	dyschondrosteosis-nephritis syndrome	biolink:Disease	mondo	MESH:C565080|Orphanet:1765|OMIM:127350|GARD:0001994|UMLS:C1851986|ICD10:Q87.8	gard_rare|ordo_malformation_syndrome	dyschondrosteosis nephritis|dyschondrosteosis and nephritis|mesomelic shortening and hereditary nephritis	http://purl.obolibrary.org/obo/MONDO_0007482	Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity, with hereditary nephritis.	http://identifiers.org/omim/127350|UMLS:C1851986|ORPHA:1765|MESH:C565080
MONDO:0007480	dwarfism with stiff joints and ocular abnormalities	biolink:Disease	mondo	MESH:C535724|OMIM:127200|Orphanet:2569|SCTID:72913007|ICD9:759.89		Moore-Federman syndrome|dwarfism with stiff joints and ocular abnormalities	http://purl.obolibrary.org/obo/MONDO_0007480		ORPHA:2569|MESH:C535724|SNOMEDCT:72913007|http://identifiers.org/omim/127200
GO:0042105	alpha-beta T cell receptor complex	biolink:OntologyClass	mondo			alpha-beta T-lymphocyte receptor complex|alpha-beta TCR complex|alpha-beta T lymphocyte receptor complex|alpha-beta T-cell receptor complex	http://purl.obolibrary.org/obo/GO_0042105	A T cell receptor complex in which the TCR heterodimer comprises alpha and beta chains, associated with the CD3 complex; recognizes a complex consisting of an antigen-derived peptide bound to a class I or class II MHC protein.	
MONDO:0020459	unstable hemoglobin disease	biolink:Disease	mondo	ICD9:282.7|SCTID:18273004|Orphanet:99139|UMLS:C0272006	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0020459		ORPHA:99139|SNOMEDCT:18273004|UMLS:C0272006
MONDO:0020458	hemolytic anemia due to erythrocyte adenosine deaminase overproduction	biolink:Disease	mondo	UMLS:C1863235|OMIM:102730|UMLS:CN207319|MESH:C566314|ICD10:D55.3|Orphanet:99138	ordo_disease	adenosine deaminase, elevated, hemolytic anemia due to	http://purl.obolibrary.org/obo/MONDO_0020458	Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected.	ORPHA:99138|http://identifiers.org/omim/102730|MESH:C566314|UMLS:CN207319|UMLS:C1863235
MONDO:0020457	6-phosphogluconate dehydrogenase deficiency	biolink:Disease	mondo	ICD10:D55.1|Orphanet:99135	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0020457		ORPHA:99135
MONDO:0019478	adult nodular lymphocyte predominant Hodgkin lymphoma	biolink:Disease	mondo	UMLS:C1332210|MEDGEN:231044|NCIT:C7942	ordo_disease	adult nodular lymphocyte predominant Hodgkin's lymphoma|adult nodular lymphocyte predominant Hodgkin's disease|adult NLPHD|nodular lymphocyte predominant Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0019478	A nodular lymphocyte predominant Hodgkin lymphoma occurring in adults.	UMLS:C1332210|NCIT:C7942
MONDO:0019477	obsolete angioimmunoblastic T-cell lymphoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019477		
GO:0030154	cell differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0030154	The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.	
MONDO:0019479	histiocytic sarcoma	biolink:Disease	mondo	ICD10:C96.8|UMLS:C0334663|ONCOTREE:HS|NCIT:C27349|ICD9:171.9|SCTID:109988003|MESH:D054747|ICDO:9755/3|Orphanet:86896|ICD10:C96.A	ordo_disease	histiocytic sarcoma|sarcoma, histiocytic, malignant	http://purl.obolibrary.org/obo/MONDO_0019479	An aggressive malignant neoplasm with a poor response to therapy, usually presenting as stage III/IV disease. It is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes.	UMLS:C0334663|SNOMEDCT:109988003|ORPHA:86896|MESH:D054747|NCIT:C27349
GO:0030155	regulation of cell adhesion	biolink:OntologyClass	mondo			cell adhesion receptor regulator activity	http://purl.obolibrary.org/obo/GO_0030155	Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix.	
MONDO:0019474	hepatosplenic T-cell lymphoma	biolink:Disease	mondo	NCIT:C8459|ICDO:9716/3|ICD10:C86.1|MedDRA:10066957|SCTID:445406001|Orphanet:86882|ONCOTREE:HSTCL|UMLS:C1333984|ICD9:202.80	ordo_disease	Hepatosplenic gamma/Delta T-cell lymphoma|HSTCL	http://purl.obolibrary.org/obo/MONDO_0019474	An extranodal, mature T-cell non-Hodgkin lymphoma that originates from cytotoxic T-cells, usually of gamma/delta T-cell type. It is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids. A similar infiltrating pattern is also present in the spleen and bone marrow that are usually involved at the time of the diagnosis.	MEDDRA:10066957|UMLS:C1333984|ORPHA:86882|NCIT:C8459|SNOMEDCT:445406001
MONDO:0019473	enteropathy-associated T-cell lymphoma	biolink:Disease	mondo	UMLS:C0456889|GARD:0009809|SCTID:277654008|ICD10:C86.2|ICDO:9717/3|ONCOTREE:EATL|MESH:D058527|NCIT:C4737|MedDRA:10022703|Orphanet:86880|ICD9:202.70	gard_rare|ordo_disease	EATL|EATCL|ETTL|enteropathy-associated T-cell lymphoma, type I|enteropathy-type T-cell lymphoma|EATL, type I|enteropathy associated T-cell lymphoma|intestinal T-cell lymphoma|high-grade pleomorphic peripheral T-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0019473	An uncommon mature T-cell lymphoma of intraepithelial lymphocytes. It usually arises from the small intestine, most commonly the jejunum or ileum. Other less frequent primary anatomic sites include the duodenum, stomach, colon, or outside the gastrointestinal tract. It is seen with increased frequency in regions with a high prevalence of celiac disease.	NCIT:C4737|ORPHA:86880|MEDDRA:10022703|UMLS:C0456889|SNOMEDCT:277654008|MESH:D058527
MONDO:0019476	primary cutaneous peripheral T-cell lymphoma not otherwise specified	biolink:Disease	mondo	MedDRA:10034623|ICD10:C84.4|Orphanet:86885	ordo_disease	primary cutaneous peripheral T-cell lymphoma NOS|primary cutaneous unspecified peripheral T-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0019476		MESH:D016411|ORPHA:86885|MEDDRA:10034623|UMLS:C0079774
MONDO:0019475	subcutaneous panniculitis-like T-cell lymphoma	biolink:Disease	mondo	OMIM:618398|SCTID:404133000|NCIT:C6918|ICD10:C83.6|MESH:C537503|EFO:1000552|ICD10:C86.3|UMLS:C0522624|Orphanet:86884|ICDO:9708/3|ONCOTREE:SPTCL|GARD:0010193|ICD9:202.70	ordo_disease	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE; SPTCL|subcutaneous panniculitis-like T-cell lymphoma, Alpha/Beta type|subcutaneous panniculitic T-cell lymphoma|subcutaneous panniculitis-like T-cell lymphoma|subcutaneous panniculitis-like T-cell lymphoma (Alpha/Beta type)|SPTCL	http://purl.obolibrary.org/obo/MONDO_0019475	Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic cutaneous lymphoma that has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue.	MESH:C537503|ORPHA:86884|SNOMEDCT:404133000|http://identifiers.org/omim/618398|UMLS:C0522624|NCIT:C6918
MONDO:0019461	B-cell prolymphocytic leukemia	biolink:Disease	mondo	SCTID:277619001|EFO:1000102|ICDO:9833/3|UMLS:C0475801|Orphanet:86852|MESH:D054403|NCIT:C4753|ONCOTREE:BPLL|ICD10:C91.3	ordo_disease	B prolymphocytic leukemia|B-PLL|BPLL|B-cell prolymphocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0019461	A neoplasm of prolymphocytes affecting the blood, bone marrow, and spleen. It is characterized by prolymphocytes exceeding 55% of the lymphoid cells in the blood and profound splenomegaly.	NCIT:C4753|SNOMEDCT:277619001|ORPHA:86852|MESH:D054403|UMLS:C0475801
MONDO:0019460	acute leukemia of ambiguous lineage	biolink:Disease	mondo	GARD:0008638|MedDRA:10067399|UMLS:C1301357|SCTID:721308005|Orphanet:86851|ICD10:C95.0|NCIT:C7464	ordo_group_of_disorders	mixed phenotype acute leukemia|BAL|biphenotypic acute leukemia|mixed lineage acute leukemia|acute leukemia of ambiguous lineage|acute leukemia of undetermined lineage|acute leukemia of indeterminate lineage|hybrid acute leukemia|AML with lymphoid markers|ALL with myeloid markers	http://purl.obolibrary.org/obo/MONDO_0019460	An acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. (WHO, 2001)	MEDDRA:10067399|ORPHA:86851|UMLS:C1301357|NCIT:C7464|SNOMEDCT:721308005
GO:0030148	sphingolipid biosynthetic process	biolink:OntologyClass	mondo			sphingolipid synthesis|sphingolipid formation|sphingolipid biosynthesis|sphingolipid anabolism	http://purl.obolibrary.org/obo/GO_0030148	The chemical reactions and pathways resulting in the formation of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid).	
HGNC:20502	SLC39A5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20502		
MONDO:0020456	pleuro-pericardial cyst	biolink:Disease	mondo	Orphanet:99131|ICD10:Q24.8	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0020456	Pleuro-pericardial cyst is a rare, mostly congenital, pericardium anomaly characterized by the presence of, usually asymptomatic, cysts which are typically located in the right costophrenic angle and are usually incidentally diagnosed. On occasion, it manifests with chest pain, dyspnea, tachycardia, persistent cough or cardiac arrhythmias. The condition is usually benign, but rare complications, such as cardiac tamponade, cardiogenic shock, mitral valve prolapse, hoarseness atrial fibrillation, right ventricular outflow, tract obstruction, spontaneous internal hemorrhage, pulmonary stenosis and sudden death, may occur.	ORPHA:99131
MONDO:0020455	congenital partial agenesis of pericardium	biolink:Disease	mondo	ICD10:Q24.8|Orphanet:99130	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0020455	Congenital partial agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation mainly characterized by the partial absence of the left pericardium. It is occasionally associated with chest pain or dyspnea and is usually incidentally diagnosed during surgery or at autopsy. Herniation and strangulation of a portion of the heart through the pericardial foramen may occur, resulting in myocardial acute ischemia and possible sudden death. Right side pericardium involvement is rare.	ORPHA:99130
MONDO:0020454	congenital complete agenesis of pericardium	biolink:Disease	mondo	ICD10:Q24.8|Orphanet:99129	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0020454	Congenital complete agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation characterized by the complete absence of the entire pericardium, or by the absence of either the right (uncommon) or left pericardium. It is occasionally associated with chest pain (common), dyspnea, dizziness, bradycardia and syncope, while exertional manifestations are rare. The disease is usually incidentally diagnosed during surgery or at autopsy.	ORPHA:99129
MONDO:0007498	ear exostoses	biolink:Disease	mondo	OMIM:128300|UMLS:C0155411		ear exostoses|exostoses of external auditory canal	http://purl.obolibrary.org/obo/MONDO_0007498		UMLS:C0155411|http://identifiers.org/omim/128300
MONDO:0007499	ear folding	biolink:Disease	mondo	OMIM:128500		ear folding	http://purl.obolibrary.org/obo/MONDO_0007499		http://identifiers.org/omim/128500
MONDO:0020453	congenital partial pulmonary venous return anomaly	biolink:Disease	mondo	Orphanet:99124|SCTID:68237008|ICD10:Q26.3|NCIT:C99004	ordo_morphological_anomaly	Partial anomalous pulmonary Venous connection|Partial anomalous pulmonary Venous return	http://purl.obolibrary.org/obo/MONDO_0020453	Partial pulmonary venous return (PAPVR) is a form of congenital pulmonary venous return where one or a few of the pulmonary veins drain into the right atrium or one of its tributaries instead of the left atrium. Some patients can be asymptomatic while others can manifest with non-specific signs such as frequent respiratory infections, fatigue and exertional dyspnea.	SNOMEDCT:68237008|NCIT:C99004|ORPHA:99124
GO:0042113	B cell activation	biolink:OntologyClass	mondo			B lymphocyte activation|B-cell activation|B-lymphocyte activation	http://purl.obolibrary.org/obo/GO_0042113	The change in morphology and behavior of a mature or immature B cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.	
MONDO:0020452	inferior vena cava interruption	biolink:Disease	mondo	ICD10:Q26.8|ICD9:747.49|Orphanet:99123|SCTID:93031005	ordo_morphological_anomaly	IVC interruption|Inferior caval vein interruption	http://purl.obolibrary.org/obo/MONDO_0020452		SNOMEDCT:93031005|ORPHA:99123
MONDO:0007496	dystonia 12	biolink:Disease	mondo	OMIM:128235|Orphanet:71517|DOID:0090056|UMLS:C1868681|SCTID:702323008|GARD:0009628|ICD10:G24.1|MESH:C538001	ordo_disease	dystonia-Parkinsonism, rapid-onset|dystonia 12|ATP1A3 dystonic disorder|rapid-onset dystonia-parkinsonism|dystonia 12; DYT12|dystonia type 12|dystonic disorder caused by mutation in ATP1A3|DYT-ATP1A3|RDP|DYT12	http://purl.obolibrary.org/obo/MONDO_0007496	Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.	MESH:C538001|UMLS:C1868681|DOID:0090056|ORPHA:71517|SNOMEDCT:702323008|http://identifiers.org/omim/128235
MONDO:0007497	ear antitragus, tag at base of	biolink:Disease	mondo	OMIM:128290		ear antitragus, tag at base of	http://purl.obolibrary.org/obo/MONDO_0007497		http://identifiers.org/omim/128290
MONDO:0020451	congenital stenosis of the inferior vena cava	biolink:Disease	mondo	ICD9:747.49|ICD10:Q26.0|Orphanet:99122|SCTID:62335009	ordo_morphological_anomaly	congenital stenosis of the IVC|congenital stenosis of the inferior caval vein	http://purl.obolibrary.org/obo/MONDO_0020451		UMLS:C0265934|SNOMEDCT:62335009|ORPHA:99122
MONDO:0007494	episodic kinesigenic dyskinesia 1	biolink:Disease	mondo	SCTID:609221008|MESH:C537180|OMIM:128200|GARD:0008721|DOID:0090053|ICD10:G24.8|ICD9:333.5|Orphanet:98809	ordo_disease	paroxysmal kinesigenic choreathetosis|episodic kinesigenic dyskinesia type 1|PRRT2 episodic kinesigenic dyskinesia|episodic kinesigenic dyskinesia 1|paroxysmal kinesigenic dyskinesia|dystonia, familial paroxysmal|paroxysmal kinesigenic choreoathetosis|DYT-PRRT2|dystonia 10|episodic kinesigenic dyskinesia caused by mutation in PRRT2|familial PKD|episodic kinesigenic dyskinesia 1; EKD1|PxMD-PRRT2|familial paroxysmal kinesigenic dyskinesia|EKD1	http://purl.obolibrary.org/obo/MONDO_0007494	Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia, characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements.	MESH:C537180|SNOMEDCT:609221008|ORPHA:98809|DOID:0090053|http://identifiers.org/omim/128200
GO:0042110	T cell activation	biolink:OntologyClass	mondo			T-lymphocyte activation|T lymphocyte activation|T-cell activation	http://purl.obolibrary.org/obo/GO_0042110	The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.	
MONDO:0020450	azygos continuation of the inferior vena cava	biolink:Disease	mondo	Orphanet:99121|ICD10:Q26.8	ordo_morphological_anomaly	azygos continuation of the IVC|azygos continuation of the inferior caval vein	http://purl.obolibrary.org/obo/MONDO_0020450		ORPHA:99121
MONDO:0007495	dystonia 5	biolink:Disease	mondo	SCTID:715768000|OMIM:128230|DOID:0090043|Orphanet:98808|UMLS:CN207122|GARD:0012144|ICD10:G24.1	ordo_disease	dystonia 5|autosomal dominant dopa-responsive dystonia|autosomal dominant Segawa syndrome|Dopa-responsive dystonia; Segawa syndrome AD|Segawa syndrome, autosomal dominant|GTPCH1-deficient dopa-responsive dystonia|DYT5a|HPD with marked diurnal fluctuation|dystonia, DOPA-responsive|Dopa-responsive dystonia, autosomal dominant|DYT-GCH1|dystonia, progressive, with diurnal variation|dystonia, DOPA-responsive; DRD|hereditary progressive dystonia with marked diurnal fluctuation|dystonia-Parkinsonism with diurnal fluctuation|DRD|dystonia, Dopa-responsive, autosomal dominant|dystonia type 5|GTPCH1-deficient DRD|GTP cyclohydrolase 1-deficient dopa-responsive dystonia	http://purl.obolibrary.org/obo/MONDO_0007495	Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.	SNOMEDCT:715768000|UMLS:CN207122|ORPHA:98808|DOID:0090043|http://identifiers.org/omim/128230
MONDO:0007492	early-onset generalized limb-onset dystonia	biolink:Disease	mondo	UMLS:C0013423|UMLS:C3888090|OMIM:128100|ICD10:G24.1|DOID:0060730|GARD:0002027|Orphanet:256|MESH:C538005	gard_rare|ordo_disease	Early-onset torsion dystonia|early-onset primary dystonia|dystonia 1, torsion, autosomal dominant; DYT1|early onset torsion dystonia|idiopathic torsion dystonia|early-onset torsion dystonia|Oppenheim's dystonia|early-onset generalized torsion dystonia|torsion dystonia type 1|Oppenheim dystonia|idiopathic dystonia|dystonia musculorum deformans|dystonia 1, torsion, autosomal dominant|Dyt1|Early-onset Primary dystonia|idiopathic dystonia DYT1|dystonia 1, torsion, Autosomal dominant|DYT-TOR1A|dystonia musculorum deformans 1|DYT-TOR1A dystonia|Early-onset Generalized torsion dystonia|DYT1|EOTD|Primary torsion dystonia|early-onset torsion dystonia|torsion dystonia 1|early-onset generalized limb-onset dystonia|Early onset torsion dystonia|Oppenheim dystonia|dystonia 1|torsion dystonia 1, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0007492	Early onset torsion dystonia (EOTD) is a rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body.	UMLS:C0013423|ORPHA:256|http://identifiers.org/omim/128100|DOID:0060730|UMLS:C3888090|MESH:C538005
MONDO:0007493	torsion dystonia 4	biolink:Disease	mondo	SCTID:719276005|OMIM:128101|GARD:0010138|UMLS:C1851943|UMLS:C1860315|DOID:0090041|ICD10:G24.1|Orphanet:98805	ordo_disease	whispering dysphonia|whispering dysphonia, hereditary|dystonia 4, torsion, autosomal dominant; DYT4|dystonia 4, torsion, autosomal dominant|torsion dystonia type 4|dystonia musculorum deformans 4|DYT4|hereditary whispering dysphonia|autosomal dominant torsion dystonia-4|primary dystonia, DYT4 type	http://purl.obolibrary.org/obo/MONDO_0007493	DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).	UMLS:C1851943|SNOMEDCT:719276005|UMLS:C1860315|ORPHA:98805|DOID:0090041|http://identifiers.org/omim/128101
MONDO:0007490	carpotarsal osteochondromatosis	biolink:Disease	mondo	ICD10:D16.9|GARD:0001128|SCTID:389272007|Orphanet:2767|MESH:C565076|OMIM:127820|UMLS:C1300233	gard_rare|ordo_malformation_syndrome	osteochondromatosis, dominant carpotarsal|Maroteaux Le Merrer Bensahel syndrome|dominant carpotarsal osteochondromatosis|dysplasia epiphysealis hemimelica with CHONDROMAS and osteochondromas|Maroteaux-Le Merrer-Bensahel syndrome	http://purl.obolibrary.org/obo/MONDO_0007490	Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs.	SNOMEDCT:389272007|ORPHA:2767|MESH:C565076|UMLS:C1300233|http://identifiers.org/omim/127820
MONDO:0007491	dystelephalangy	biolink:Disease	mondo	UMLS:C1851955|GARD:0010059|OMIM:128000|MESH:C538000	gard_rare	Kirner deformity|dystelephalangy|congenital bilateral metadiaphyseal acrodysplasia of the little finger	http://purl.obolibrary.org/obo/MONDO_0007491		http://identifiers.org/omim/128000|MESH:C538000|UMLS:C1851955
MONDO:0020449	persistent eustachian valve	biolink:Disease	mondo	ICD10:Q26.8|Orphanet:99120	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0020449		ORPHA:99120
GO:0042116	macrophage activation	biolink:OntologyClass	mondo			macrophage polarization	http://purl.obolibrary.org/obo/GO_0042116	A change in morphology and behavior of a macrophage resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor.	
MONDO:0020448	right inferior vena cava connecting to left-sided atrium	biolink:Disease	mondo	ICD10:Q26.8|Orphanet:99119	ordo_morphological_anomaly	right IVC connecting to left-sided atrium|right inferior caval vein connecting to left-sided atrium	http://purl.obolibrary.org/obo/MONDO_0020448		ORPHA:99119
MONDO:0020447	coronary sinus atresia	biolink:Disease	mondo	Orphanet:99118|ICD10:Q21.1	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0020447		ORPHA:99118
MONDO:0020446	coronary sinus stenosis	biolink:Disease	mondo	Orphanet:99117|ICD10:Q21.1	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0020446		ORPHA:99117
MONDO:0019467	CD4+/CD56+ hematodermic neoplasm	biolink:Disease	mondo	ONCOTREE:BPDCN|ICD9:202.80|ICDO:9727/3|UMLS:C1301363|ICD10:C86.4|Orphanet:86870|SCTID:445105005|GARD:0010556|NCIT:C7203|UMLS:CN206246	ordo_disease|gard_rare	blastic plasmacytoid dendritic cell|blastic NK-cell lymphoma|blastic natural Killer leukemia/lymphoma|CD4+/CD56+ hematodermic neoplasm|lymphoblastoid variant of NK-cell lymphoma|blastic plasmacytoid dendritic cell neoplasm|agranular CD4+ natural Killer cell leukemia|monomorphic NK-cell lymphoma|agranular CD4+ CD56+ hematodermic neoplasm/tumor|primary cutaneous CD4+/CD56+ hematolymphoid neoplasm|early plasmacytoid Dendritic cell leukemia/lymphoma|blastic plasmacytoid Dendritic cell neoplasm|BPDCN	http://purl.obolibrary.org/obo/MONDO_0019467	An aggressive immature hematologic neoplasm formerly known as blastic NK cell lymphoma, composed of cells with a lymphoblast-like morphology. Recent evidence suggests derivation from a plasmacytoid monocyte. Patients present with cutaneous tumors and bone marrow involvement.	ORPHA:86870|UMLS:C1301363|NCIT:C7203|SNOMEDCT:445105005|UMLS:CN206246
MONDO:0019466	lymphomatoid granulomatosis	biolink:Disease	mondo	SCTID:239940004|ICD10:C83.8|NCIT:C7930|Orphanet:86869|MedDRA:10025325|ONCOTREE:LYG|UMLS:C0024307|ICDO:9766/1|GARD:0006943|MESH:D008230	gard_rare|ordo_disease	LYG	http://purl.obolibrary.org/obo/MONDO_0019466	Lymphomatoid granulomatosis (LYG) is a very rare Epstein-Barr virus (EBV)-driven lymphoproliferative disease most commonly occurring in adults (in the fourth to sixth decade of life) and commonly affecting the lungs (with presentations varying from small bilateral pulmonary nodules to large necrotic and sometimes cavitating lesions), skin, central nervous system, and kidneys, but only very rarely affecting the lymph nodes and spleen. The symptoms associated with LYG depend on the site of disease involvement but mainly include cough, dyspnea or chest pain (in those with pulmonary involvement) and constitutional symptoms such as weight loss and fever.	MEDDRA:10025325|SNOMEDCT:239940004|MESH:D008230|ORPHA:86869|UMLS:C0024307|NCIT:C7930
MONDO:0019469	T-cell large granular lymphocyte leukemia	biolink:Disease	mondo	ONCOTREE:TLGL|ICD9:204.80|MedDRA:10065862|NCIT:C4664|UMLS:C1955861|UMLS:C1522378|GARD:0009812|ICDO:9768/1|ICDO:9831/3|DOID:0050751|SCTID:277569004|ICDO:9831/1|Orphanet:86872	ordo_disease	leukemia, large granular LYMPHOCYTIC, malignant|LGL leukemia|T gamma lymphoproliferative disorder|T-LGL|T-gamma lymphoproliferative disorder|T-cell large granular lymphocyte leukemia|T-cell LGL leukemia|large granular lymphocytosis|T-cell large gran. lymph. leuk.|large granular lymphocyte leukemia|TLGL|T-LGL leukemia|large granular lymphocytic leukemia|proliferation of large granular lymphocytes|large cell granular lymphoid leukemia|LGLL|T-cell large granular lymphocytic leukemia|large cell granular lymphogenous leukemia|Tgamma large granular lymphocyte leukemia	http://purl.obolibrary.org/obo/MONDO_0019469	T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage.	UMLS:C1522378|NCIT:C4664|UMLS:C1955861|SNOMEDCT:277569004|MESH:D054066|MEDDRA:10065862|ORPHA:86872|DOID:0050751
MONDO:0019468	T-cell prolymphocytic leukemia	biolink:Disease	mondo	Orphanet:86871|UMLS:C2363142|MedDRA:10042985|ONCOTREE:TPLL|NCIT:C4752|GARD:0008224|NCIT:C70649|ICDO:9834/3|ICD10:C91.6|MESH:D015461|UMLS:C0023494|SCTID:277545003|EFO:1000560|SCTID:277567002	ordo_disease	CLL, T-cell|T cell CLL|T-PLL|T prolymphocytic leukemia|T-cell CLL|leukemia, T-cell, chronic|chronic T-cell leukemia|T cell chronic lymphocytic leukemia|T cell prolymphocytic leukemia|chronic T-cell lymphocytic leukemia|T-cell prolymphocytic leukemia|TPLL|T-cell chronic lymphocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0019468	A slow-growing type of leukemia (blood cancer) in which too many lymphocytes are found in the bone marrow and/or blood. The T-cell is specified as the defective cell line.	NCIT:C4752|MESH:D015461|UMLS:C2363142|NCIT:C70649|MEDDRA:10042985|SNOMEDCT:277545003|ORPHA:86871|SNOMEDCT:277567002|UMLS:C0023494
MONDO:0019463	non-amyloid monoclonal immunoglobulin deposition disease	biolink:Disease	mondo	UMLS:CN206242|Orphanet:86861|ICD10:D89.8	ordo_disease	Randall disease|non-amyloid MIDD	http://purl.obolibrary.org/obo/MONDO_0019463		ORPHA:86861|UMLS:CN206242
GO:0030141	secretory granule	biolink:OntologyClass	mondo			secretory vesicle	http://purl.obolibrary.org/obo/GO_0030141	A small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. Secretory granules move towards the periphery of the cell and upon stimulation, their membranes fuse with the cell membrane, and their protein load is exteriorized. Processing of the contained protein may take place in secretory granules.	
MONDO:0019462	splenic marginal zone lymphoma	biolink:Disease	mondo	UMLS:C0349632|MedDRA:10062113|ONCOTREE:SMZL|NCIT:C4663|ICD10:C83.0|SCTID:763666008|ICDO:9689/3|Orphanet:86854|EFO:1000550|DOID:0050750	ordo_disease	splenic lymphoma with circulating villous lymphocytes|splenic marginal zone lymphoma|SLVL|splenic marginal zone B-cell lymphoma|splenic marginal zone B-cell lymphoma with villous lymphocytes|SMZL|marginal zone lymphoma of spleen|splenic marginal zone lymphoma with villous lymphocytes|marginal zone lymphoma of the spleen	http://purl.obolibrary.org/obo/MONDO_0019462	Splenic marginal zone lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia, could be associated.	NCIT:C4663|ORPHA:86854|SNOMEDCT:763666008|DOID:0050750|MEDDRA:10062113|UMLS:C0349632
MONDO:0019465	nodal marginal zone B-cell lymphoma	biolink:Disease	mondo	MedDRA:10029460|NCIT:C8863|SCTID:277623009|Orphanet:86867|ICD10:C83.0|DOID:0080211|ONCOTREE:NMZL|UMLS:C0855139	ordo_disease	Monocytoid B-cell lymphoma|nodal marginal zone lymphoma|nodal marginal zone B-cell lymph.|NMZL|nodal marginal zone B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0019465	Nodal marginal zone B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma, characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement of the lymph nodes, sometimes the bone marrow, and rarely the blood. Clinically it presents with disseminated peripheral, abdominal and/or thoracic lymphadenopathy. Cytopenia and bulky tumors (greater than 5 cm) are rare. Association with Hepatitis C virus and chronic inflammation has been reported.	SNOMEDCT:277623009|DOID:0080211|UMLS:C0855139|ORPHA:86867|NCIT:C8863|MEDDRA:10029460
MONDO:0019464	heavy chain disease	biolink:Disease	mondo	SCTID:68979007|MedDRA:10019350|ICDO:9762/3|ICD10:C88.3|ICD9:273.2|MESH:D006362|DOID:0060125|ICD10:C88.2|UMLS:C0018852|Orphanet:86864|EFO:1001341|NCIT:C3082	ordo_disease	HCD|heavy chain disease	http://purl.obolibrary.org/obo/MONDO_0019464	Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains.	UMLS:C0018852|NCIT:C3082|SNOMEDCT:68979007|MEDDRA:10019350|ORPHA:86864|DOID:0060125|MESH:D006362
MONDO:0007508	Rapp-Hodgkin syndrome	biolink:Disease	mondo	OMIM:129400|MESH:C535289|DOID:0060330|Orphanet:3022|SCTID:7731005|GARD:0005690|UMLS:CN203427	gard_rare|speculative	cleft lip with or without cleft palate, nonsyndromic, 8|anhidrotic ectodermal dysplasia with cleft lip/palate|RHS|Rapp-Hodgkin ectodermal dysplasia syndrome|Rapp-Hodgkin syndrome; RHS|OFC8, included|ectodermal dysplasia, anhidrotic, with cleft Lip/palate|ectodermal dysplasia, anhidrotic, with cleft lip-palate|orofacial cleft 8|Rapp-Hodgkin syndrome	http://purl.obolibrary.org/obo/MONDO_0007508	A form of ectodermal dysplasia characterized by the association of anhidrotic ectodermal dysplasia with cleft lip/palate.	DOID:0060330|http://identifiers.org/omim/129400|ORPHA:3022|UMLS:CN203427|SNOMEDCT:7731005|MESH:C535289
MONDO:0007509	ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	biolink:Disease	mondo	GARD:0002048|UMLS:C3888065|DOID:0111663|OMIM:129490		ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; ECTD10A|ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|hypohidrotic ectodermal dysplasia autosomal dominant|ectodermal dysplasia hypohidrotic autosomal dominant|ECTD10A|ectodermal dysplasia, hypohidrotic, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0007509		DOID:0111663|http://identifiers.org/omim/129490|UMLS:C3888065
MONDO:0007506	obsoleted echo virus 11 sensitivity	biolink:Disease	mondo	MESH:C565071|UMLS:C1851888|OMIM:129150		echo virus 11 sensitivity; E11S|echo virus 11 sensitivity|E11S	http://purl.obolibrary.org/obo/MONDO_0007506		http://identifiers.org/omim/129150|UMLS:C1851888|MESH:C565071
MONDO:0007507	absence of fingerprints-congenital milia syndrome	biolink:Disease	mondo	SCTID:239011004|Orphanet:1658|OMIM:129200|ICD10:Q82.8|MESH:C537659|GARD:0002336	gard_rare|ordo_disease	absence of dermatoglyphics congenital milia|Basan syndrome|Baird syndrome|absence of dermatoglyphics-congenital milia syndrome|ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and Simian Crease|absence of fingerprints congenital milia|adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities	http://purl.obolibrary.org/obo/MONDO_0007507	Absence of fingerprints-congenital milia syndrome is characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait.	http://identifiers.org/omim/129200|SNOMEDCT:239011004|MESH:C537659|ORPHA:1658
MONDO:0007504	thickened earlobes-conductive deafness syndrome	biolink:Disease	mondo	GARD:0002195|SCTID:722476007|Orphanet:2405|OMIM:128980|ICD10:H90.0	ordo_malformation_syndrome	Escher-Hirt syndrome|earlobes, thickened, with conductive deafness from incudostapedial abnormalities|Escher Hirt syndrome	http://purl.obolibrary.org/obo/MONDO_0007504	Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant.	SNOMEDCT:722476007|http://identifiers.org/omim/128980|ORPHA:2405
MONDO:0007505	earring holes, natural	biolink:Disease	mondo	OMIM:129000		earring holes, natural|earlobe sinuses	http://purl.obolibrary.org/obo/MONDO_0007505		http://identifiers.org/omim/129000
MONDO:0007502	ear pits, posterior helical	biolink:Disease	mondo	OMIM:128710		ear pits, posterior helical|posterior helical Ear pits|earlobe Indentations, posterior	http://purl.obolibrary.org/obo/MONDO_0007502		http://identifiers.org/omim/128710
HGNC:2548	CUBN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2548		
MONDO:0007503	ear without helix	biolink:Disease	mondo	OMIM:128800		ear without helix	http://purl.obolibrary.org/obo/MONDO_0007503		http://identifiers.org/omim/128800
MONDO:0007500	ear malformation	biolink:Disease	mondo	ICD9:744.29|ICD9:744.3|OMIM:128600|SCTID:275259005		ear malformation|cup Ear	http://purl.obolibrary.org/obo/MONDO_0007500		http://identifiers.org/omim/128600|SNOMEDCT:275259005
MONDO:0007501	preauricular fistulae, congenital	biolink:Disease	mondo	MESH:C563015|OMIM:128700		Ear pits|preauricular fistulae, congenital|Pafc	http://purl.obolibrary.org/obo/MONDO_0007501		http://identifiers.org/omim/128700|MESH:C563015
FOODON:03460180	obsolete: food added	biolink:OntologyClass	mondo	http://www.langual.org/langual_thesaurus.asp?termid=H0180			http://purl.obolibrary.org/obo/FOODON_03460180		
UBERON:0004385	epiphysis of radius	biolink:AnatomicalEntity	mondo			radial epiphysis	http://purl.obolibrary.org/obo/UBERON_0004385	An epiphysis that is part of a radius [Automatically generated definition].	
UBERON:0004386	epiphysis of ulna	biolink:AnatomicalEntity	mondo			ulnar epiphysis	http://purl.obolibrary.org/obo/UBERON_0004386	An epiphysis that is part of an ulna [Automatically generated definition].	
UBERON:0004383	epiphysis of tibia	biolink:AnatomicalEntity	mondo			tibial epiphysis	http://purl.obolibrary.org/obo/UBERON_0004383	An epiphysis that is part of a tibia [Automatically generated definition].	
UBERON:0004384	epiphysis of femur	biolink:AnatomicalEntity	mondo			femoral epiphysis	http://purl.obolibrary.org/obo/UBERON_0004384	An epiphysis that is part of a femur [Automatically generated definition].	
UBERON:0004381	skeleton of limb	biolink:AnatomicalEntity	mondo			set of bones of limb|limb skeleton|free limb skeleton	http://purl.obolibrary.org/obo/UBERON_0004381	The collection of all skeletal elements in an individual limb.	
UBERON:0004382	epiphysis of humerus	biolink:AnatomicalEntity	mondo			humeral epiphysis	http://purl.obolibrary.org/obo/UBERON_0004382	An epiphysis that is part of a humerus [Automatically generated definition].	
UBERON:0004380	proximal epiphysis	biolink:AnatomicalEntity	mondo			proximal end of long bone	http://purl.obolibrary.org/obo/UBERON_0004380	An epiphysis that is on the proximal side of the bone.	
HGNC:2555	CUL4B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2555		
HP:0004431	Complement deficiency	biolink:PhenotypicFeature	mondo	UMLS:C0272242|SNOMEDCT_US:24743004			http://purl.obolibrary.org/obo/HP_0004431	An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins.	
UBERON:0004389	epiphysis of metatarsal bone	biolink:AnatomicalEntity	mondo			metatarsal epiphysis|epiphysis of metatarsal|metatarsal bone epiphysis	http://purl.obolibrary.org/obo/UBERON_0004389	An epiphysis that is part of a metatarsal bone [Automatically generated definition].	
HGNC:2553	CUL3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2553		
HP:0004430	Severe combined immunodeficiency	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:31323000|MSH:D016511|UMLS:C0085110		Immunodeficiency, severe combined	http://purl.obolibrary.org/obo/HP_0004430	A combined immunodeficiency primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.	
UBERON:0004387	epiphysis of phalanx of manus	biolink:AnatomicalEntity	mondo			epiphysis of phalanx of hand|epiphysis of phalanx of finger	http://purl.obolibrary.org/obo/UBERON_0004387	An epiphysis that is part of a phalanx of a manus [Automatically generated definition].	
UBERON:0004388	epiphysis of fibula	biolink:AnatomicalEntity	mondo			fibula epiphysis	http://purl.obolibrary.org/obo/UBERON_0004388	An epiphysis that is part of a fibula [Automatically generated definition].	
MONDO:0007519	Edinburgh malformation syndrome	biolink:Disease	mondo	MESH:C563051|GARD:0002074|UMLS:C0795933|ICD10:Q95.2|OMIM:129850|Orphanet:1895	ordo_malformation_syndrome|gard_rare	Edinburgh malformation syndrome|typus Edinburgensis	http://purl.obolibrary.org/obo/MONDO_0007519	Edinburgh malformation syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991.	http://identifiers.org/omim/129850|UMLS:C0795933|ORPHA:1895|MESH:C563051
MONDO:0007517	ectrodactyly-cleft palate syndrome	biolink:Disease	mondo	MESH:C565064|UMLS:CN229012|UMLS:C1851848|Orphanet:1889|OMIM:129830		ectrodactyly-cleft palate syndrome|Ecp syndrome	http://purl.obolibrary.org/obo/MONDO_0007517		UMLS:CN229012|http://identifiers.org/omim/129830|UMLS:C1851848|MESH:C565064|ORPHA:1889
MONDO:0007518	edema, familial idiopathic, prepubertal	biolink:Disease	mondo	MESH:C565063|UMLS:C1851847|OMIM:129840		edema, familial idiopathic, prepubertal	http://purl.obolibrary.org/obo/MONDO_0007518		http://identifiers.org/omim/129840|UMLS:C1851847|MESH:C565063
MONDO:0007515	ectopia pupillae (disease)	biolink:Disease	mondo	MESH:C536185|HP:0009918|GARD:0008490|SCTID:193523008|OMIM:129750		familial ectopic pupil|ectopia pupillae|congenital eye malformation in which the pupils are displaced from their normal central position	http://purl.obolibrary.org/obo/MONDO_0007515		http://identifiers.org/omim/129750|MESH:C536185|SNOMEDCT:193523008
MONDO:0007516	ectrodactyly and ectodermal dysplasia without cleft lip/palate	biolink:Disease	mondo	OMIM:129810|UMLS:C1851849|Orphanet:1888|MESH:C565065		EEC syndrome without cleft Lip/palate|ectrodactyly-ectodermal dysplasia without clefting syndrome|ectrodactyly and ectodermal dysplasia without cleft lip/palate	http://purl.obolibrary.org/obo/MONDO_0007516		http://identifiers.org/omim/129810|UMLS:C1851849|MESH:C565065|ORPHA:1888
MONDO:0007513	ectodermal dysplasia with adrenal cyst	biolink:Disease	mondo	Orphanet:3391|UMLS:C1851850|OMIM:129550|MESH:C538015		ectodermal dysplasia with adrenal cyst|Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome	http://purl.obolibrary.org/obo/MONDO_0007513		http://identifiers.org/omim/129550|ORPHA:3391|UMLS:C1851850|MESH:C538015
MONDO:0007514	ectopia lentis 1, isolated, autosomal dominant	biolink:Disease	mondo	UMLS:C3541518|OMIM:129600|url:https://www.ncbi.nlm.nih.gov/pubmed/15054843|DOID:0111150		ectopia lentis 1, isolated, autosomal dominant; ECTOL1|ECTOL1|ectopia lentis 1, isolated, autosomal dominant|isolated ectopia lentis caused by mutation in FBN1|FBN1 isolated ectopia lentis|autosomal dominant isolated ectopia lentis 1	http://purl.obolibrary.org/obo/MONDO_0007514	Any isolated ectopia lentis in which the cause of the disease is a mutation in the FBN1 gene.	http://identifiers.org/omim/129600|DOID:0111150|UMLS:C3541518
HGNC:2558	CX3CR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2558		
MONDO:0007511	ectodermal dysplasia, trichoodontoonychial type	biolink:Disease	mondo	ICD10:Q82.4|Orphanet:1818|SCTID:734018003|OMIM:129510|MESH:C565068|UMLS:C1851858|GARD:0002055	gard_rare|ordo_malformation_syndrome	ectodermal dysplasia trichoodontoonychial type|ectodermal dysplasia, trichoodontoonychial type	http://purl.obolibrary.org/obo/MONDO_0007511	Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996.	UMLS:C1851858|MESH:C565068|ORPHA:1818|SNOMEDCT:734018003|http://identifiers.org/omim/129510
MONDO:0007512	ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet	biolink:Disease	mondo	UMLS:C1851851|MESH:C565067|OMIM:129540		ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet	http://purl.obolibrary.org/obo/MONDO_0007512		UMLS:C1851851|MESH:C565067|http://identifiers.org/omim/129540
MONDO:0007510	Clouston syndrome	biolink:Disease	mondo	GARD:0004253|Orphanet:189|DOID:14693|GARD:0002056|ICD10:Q82.8|OMIM:129500|SCTID:54209007	do_inheritance_inconsistent|gard_rare|ordo_disease	autosomal dominant hidrotic ectodermal dysplasia|ectodermal dysplasia, hidrotic, autosomal dominant|hidrotic ectodermal dysplasia syndrome|Clouston syndrome|Clouston's syndrome|ectodermal dysplasia, hidrotic, 2, formerly|Patel Bixler syndrome|ectodermal dysplasia, hidrotic|ectodermal dysplasia, hidrotic, 2|hidrotic ectodermal dysplasia|alopecia, dysplastic nails, palmar and plantar hyperkeratosis|Clouston hidrotic ectodermal dysplasia|palmoplantar hyperkeratosis and alopecia|Clouston's hidrotic ectodermal dysplasia|ectodermal dysplasia 2, Clouston type|hidrotic ectodermal dysplasia, autosomal dominant|ED2	http://purl.obolibrary.org/obo/MONDO_0007510	Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.	ORPHA:189|UMLS:C0162361|DOID:14693|SNOMEDCT:54209007|http://identifiers.org/omim/129500
NCBITaxon:42113	Clitellata	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_42113		
UBERON:0004374	vitelline vasculature	biolink:AnatomicalEntity	mondo			omphalomesenteric system|vitelline system|vitelline bloos vessel system	http://purl.obolibrary.org/obo/UBERON_0004374	vascular network that is connected to the yolk sac.	
UBERON:0004375	bone of free limb or fin	biolink:AnatomicalEntity	mondo			bone of appendage|appendage bone|bone of free segment of appendicular skeleton	http://purl.obolibrary.org/obo/UBERON_0004375	A bone that is part of an appendage [Automatically generated definition].	
HP:0004444	Spherocytosis	biolink:PhenotypicFeature	mondo	UMLS:C0553720|SNOMEDCT_US:17235000			http://purl.obolibrary.org/obo/HP_0004444	The presence of erythrocytes that are sphere-shaped.	
UBERON:0004370	anterior limiting lamina of cornea	biolink:AnatomicalEntity	mondo			anterior elastic lamina|Bowman's membrane|Reichert's membrane|anterior limiting lamina|Bowman's anterior elastic lamina|anterior limiting lamina of cornea|lamina limitans anterior corneae|anterior limiting membrane|Bowman's layer|lamina limitans anterior (cornea)	http://purl.obolibrary.org/obo/UBERON_0004370	A transparent homogeneous acellular layer, 6 to 9 um thick, lying between the basal lamina of the outer layer of stratified epithelium and the substantia propria of the cornea; it is considered to be a basement membrane.	
CHEBI:35942	neurotransmitter agent	biolink:ChemicalSubstance	mondo			neurotransmitter agents	http://purl.obolibrary.org/obo/CHEBI_35942	A substance used for its pharmacological action on any aspect of neurotransmitter systems. Neurotransmitter agents include agonists, antagonists, degradation inhibitors, uptake inhibitors, depleters, precursors, and modulators of receptor function.	
CHEBI:60911	racemate	biolink:ChemicalSubstance	mondo			racemates|racemic mixture|melange racemique	http://purl.obolibrary.org/obo/CHEBI_60911	A racemate is an equimolar mixture of a pair of enantiomers.	
HP:0004447	Poikilocytosis	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:165479004|UMLS:C0221281			http://purl.obolibrary.org/obo/HP_0004447	The presence of abnormally shaped erythrocytes.	
HGNC:2568	MAMLD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2568		
HGNC:2567	OFD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2567		
UBERON:0004378	proximal metaphysis	biolink:AnatomicalEntity	mondo			proximal diaphyseal end of long bone	http://purl.obolibrary.org/obo/UBERON_0004378	A metaphysis that is in the proximal side of a diaphysis.	
UBERON:0004379	distal epiphysis	biolink:AnatomicalEntity	mondo			distal end of long bone	http://purl.obolibrary.org/obo/UBERON_0004379	An epiphysis that is on the distal side of the bone.	
UBERON:0004376	fin bone	biolink:AnatomicalEntity	mondo			bone of fin	http://purl.obolibrary.org/obo/UBERON_0004376	A bone that is part of a fin [Automatically generated definition].	
HGNC:2561	CXCR4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2561		
UBERON:0004377	distal metaphysis	biolink:AnatomicalEntity	mondo			distal diaphyseal end of long bone	http://purl.obolibrary.org/obo/UBERON_0004377	A metaphysis that is in the distal side of a diaphysis.	
NCBITaxon:137207	Oligoryzomys longicaudatus	organism taxon	mondo	GC_ID:1		Oligoryzomys longicaudus	http://purl.obolibrary.org/obo/NCBITaxon_137207		
UBERON:0004363	pharyngeal arch artery	biolink:AnatomicalEntity	mondo			pharyngeal arch artery|aortic arches|aortic arch artery|branchial aortic arches|pharyngeal arch artery|branchial arch artery|a. arcuum pharyngeorum|arteriae arcuum pharyngeorum|pharyngeal arch arteries|embryonic aortic arch artery|PAA|aortic arch|branchial aortic arches	http://purl.obolibrary.org/obo/UBERON_0004363	One of a series of paired embryological vascular structures formed within a pharyngeal arch; in the adult, some of these vessels give rise to the great vessels[MP]	
HGNC:2570	CYB5A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2570		
UBERON:0004362	pharyngeal arch 1	biolink:AnatomicalEntity	mondo			1st visceral arch|branchial arch 1|arcus pharyngeus primus|first branchial arch|1st pharyngeal arch|first pharyngeal arch|1st arch|visceral arch 1|first visceral arch|mandibular arch	http://purl.obolibrary.org/obo/UBERON_0004362	The first of the series of pharyngeal arches that develop into jaw bones or their homologs, and their associated nerves and arteries	
HGNC:2579	CYC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2579		
HGNC:2578	CYBB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2578		
HGNC:2577	CYBA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2577		
UBERON:0004367	Descemet's membrane	biolink:AnatomicalEntity	mondo			Descemet's posterior elastic lamina|posterior limiting lamina|Descemet membrane|posterior limiting membrane|posterior limiting lamina of cornea|lamina limitans posterior corneae|lamina limitans posterior	http://purl.obolibrary.org/obo/UBERON_0004367	A transparent homogeneous acellular layer found between the substantia propria and the endothelial layer of the cornea[MP].	
UBERON:0004365	vitelline blood vessel	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004365	blood vessel that is connected to the yolk sac.	
CHEBI:47909	3-oxo-Delta(4) steroid	biolink:ChemicalSubstance	mondo			3-Oxo-delta4-steroid|3-oxo Delta(4)-steroids|3-oxo Delta(4)-steroid|a 3-oxo-Delta(4)-steroid|3-oxo-Delta(4) steroids	http://purl.obolibrary.org/obo/CHEBI_47909	A 3-oxo steroid conjugated to a C=C double bond at the alpha,beta position.	
FOODON:03460177	plant seed or nut food product	biolink:OntologyClass	mondo	http://www.langual.org/langual_thesaurus.asp?termid=H0177			http://purl.obolibrary.org/obo/FOODON_03460177		
NCBITaxon:29120	Oligoryzomys	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_29120		
NCBITaxon:29122	Oryzomys	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_29122		
UBERON:0004356	apical ectodermal ridge	biolink:AnatomicalEntity	mondo			AER|crista ectodermalis apicalis|apical epidermal ridge	http://purl.obolibrary.org/obo/UBERON_0004356	multilayered ectodermal region at the distal tip of a limb or fin bud necessary for the proper development of the underlying mesenchyme[MP,modified]. Along with the zone of polarizing activity, it is a crucial organizing region during limb development[WP].	
UBERON:0004357	paired limb/fin bud	biolink:AnatomicalEntity	mondo			limb - fin bud|paired limb/fin bud|paired appendage bud	http://purl.obolibrary.org/obo/UBERON_0004357	An outgrowth on the lateral trunk of the embryo that develops into a limb or paired fin. The limb/fin bud is divided into ectoderm and mesenchyme[cjm, modified from MP].	
HGNC:2584	CYLD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2584		
MONDO:0007548	transient bullous dermolysis of the newborn	biolink:Disease	mondo	UMLS:C1851573|Orphanet:79411|OMIM:131705|GARD:0010010|DOID:0111345|MESH:C536979|ICD10:Q81.2	gard_rare|ordo_disease	epidermolysis bullosa dystrophica, neonatal form|DEB-BDN|epidermolysis bullosa dystrophica, dominant neonatal form|transient bullous dermolysis of the newborn|TBDN|transient bullous dermolysis of the newborn; TBDN|MONDON|transient bullous dermolysis of the newborn; MONDON|DEB, bullous dermolysis of the newborn|dystrophic epidermolysis bullosa, neonatal	http://purl.obolibrary.org/obo/MONDO_0007548	Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life.	http://identifiers.org/omim/131705|DOID:0111345|MESH:C536979|ORPHA:79411|UMLS:C1851573
MONDO:0007549	generalized dominant dystrophic epidermolysis bullosa	biolink:Disease	mondo	DOID:0080224|ICD9:757.39|SCTID:75875004|OMIM:131750|GARD:0002139|ICD10:Q81.2|Orphanet:231568	ordo_disease	epidermolysis bullosa dystrophica, Pasini type (formerly)|autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types|epidermolysis bullosa dystrophica, Pasini type|epidermolysis bullosa dystrophica, autosomal dominant|dystrophic epidermolysis bullosa, autosomal dominant|dominant dystrophic epidermolysis bullosa, generalized|epidermolysis bullosa dystrophica, Cockayne-Touraine type|dominant dystrophic epidermolysis bullosa|DDEB, generalized|epidermolysis bullosa dystrophica with subcorneal Cleavage|DDEB, Pasini and Cockayne-Touraine types|epidermolysis bullosa dystrophica, autosomal dominant; DDEB|autosomal dominant dystrophic epidermolysis bullosa|epidermolysis bullosa dystrophica, Cockayne-Touraine type (formerly)|DDEB|Albopapuloid dominant dystrophic epidermolysis bullosa|DDEB-gen	http://purl.obolibrary.org/obo/MONDO_0007549	Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.	http://identifiers.org/omim/131750|ORPHA:231568|DOID:0080224|SNOMEDCT:75875004
MONDO:0007546	myeloproliferative disorder, chronic, with eosinophilia	biolink:Disease	mondo	UMLS:C1851585|OMIM:131440|MESH:C565054|DOID:0111344		myeloproliferative disorder, chronic, with eosinophilia|MPE|eosinophils, malignant proliferation of	http://purl.obolibrary.org/obo/MONDO_0007546		MESH:C565054|DOID:0111344|UMLS:C1851585|http://identifiers.org/omim/131440
MONDO:0007547	epidermoid cysts	biolink:Disease	mondo	NCIT:C3134|EFO:1000243|SCTID:419893006|OMIM:131600		inclusion cyst|keratinous cyst|Follicular infundibular cyst|keratin cyst|epidermoid cyst|epidermal inclusion cyst|keratinizing cyst|epidermoid cysts|horn cyst|Epidermal cyst|squamous cyst|epithelial cyst|infundibular cyst	http://purl.obolibrary.org/obo/MONDO_0007547	The most common type of cutaneous cyst. It results from the proliferation of epidermal cells in a circumscribed space within the dermis. It is usually asymptomatic and presents as a firm, round nodule.	http://identifiers.org/omim/131600|SNOMEDCT:419893006|NCIT:C3134
MONDO:0020522	Ehlers-Danlos syndrome type 7B	biolink:Disease	mondo	ICD10:Q79.6|UMLS:CN706304|GTR:AN1112967|GTR:AN1112966|MESH:C565061|GTR:AN1112503|GTR:AN1112965|UMLS:C1851801|Orphanet:99876	ordo_etiological_subtype	Ehlers-Danlos syndrome, type VIIB, autosomal dominant|EDS VIIB|EDSARTH2|EDS VIIB|Ehlers-Danlos syndrome, arthrochalasia type, 2	http://purl.obolibrary.org/obo/MONDO_0020522		UMLS:CN706304|UMLS:C1851801|ORPHA:99876|MESH:C565061
MONDO:0007544	eosinophilia, familial	biolink:Disease	mondo	GARD:0010521|SCTID:79336007|OMIM:131400|MESH:C562722	gard_rare	eosinophilia, familial|familial eosinophilia|Eos	http://purl.obolibrary.org/obo/MONDO_0007544	Familial occurrence, with more than one generation being affected, of persistent eosinophilia, an increase in the number of eosinophils in the blood, in the absence of known causal factors.	SNOMEDCT:79336007|MESH:C562722|http://identifiers.org/omim/131400
MONDO:0020521	Ehlers-Danlos syndrome type 7A	biolink:Disease	mondo	Orphanet:99875|UMLS:CN207418|ICD10:Q79.6	ordo_etiological_subtype	EDS VIIA	http://purl.obolibrary.org/obo/MONDO_0020521		ORPHA:99875|UMLS:CN207418
MONDO:0007545	Eosinophilopenia	biolink:Disease	mondo	OMIM:131430|UMLS:C1851586		Eosinophilopenia|eosinophil aplasia	http://purl.obolibrary.org/obo/MONDO_0007545		UMLS:C1851586|http://identifiers.org/omim/131430
FOODON:03460141	food modification process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03460141		
MONDO:0020520	adult pulmonary Langerhans cell histiocytosis	biolink:Disease	mondo	NCIT:C142833|Orphanet:99874|UMLS:C1455705|ICD10:C96.5|SCTID:328611000119105|UMLS:C3161104|ICD10:J84.82	ordo_disease	PLCH|pulmonary histiocytosis X|pulmonary eosinophilic granuloma|pulmonary Langerhans cell histiocytosis	http://purl.obolibrary.org/obo/MONDO_0020520	Adult pulmonary Langerhans Cell Histiocytosis (PLCH) is a rare histiocytic lung disease characterized by the accumulation of Langerhans and other inflammatory cells in the small airways, resulting in the formation of nodular inflammatory lesions.	UMLS:C3161104|SNOMEDCT:328611000119105|NCIT:C142833|UMLS:C1455705|ORPHA:99874
MONDO:0007542	Camurati-Engelmann disease	biolink:Disease	mondo	GARD:0001072|DOID:4997|NCIT:C84610|OMIM:131300|ICD9:756.59|ICD10:Q78.3|SCTID:318761000119105|Orphanet:1328|UMLS:C0011989	ordo_malformation_syndrome	CED|Camurati-Engelmann disease|diaphyseal dysplasia|diaphyseal dysplasia 1, progressive|progressive diaphyseal dysplasia|Camurati-Engelmann syndrome|CAEND|DPD1|Engelman's disease|Camurati-Engelmann disease; CAEND|Engelmann disease|Camurati-Englemann disease	http://purl.obolibrary.org/obo/MONDO_0007542	Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.	ORPHA:1328|DOID:4997|SNOMEDCT:318761000119105|UMLS:C0011989|NCIT:C84610|http://identifiers.org/omim/131300|MESH:D003966
MONDO:0007543	enolase, sperm specific	biolink:Disease	mondo	OMIM:131375		enolase, sperm specific|ENO4|enolase, sperm specific; ENO4	http://purl.obolibrary.org/obo/MONDO_0007543		http://identifiers.org/omim/131375
MONDO:0007540	multiple endocrine neoplasia type 1	biolink:Disease	mondo	MESH:D018761|DOID:10017|UMLS:C0025267|ICD9:237.4|ICD10:E31.21|NCIT:C3225|GARD:0003829|ICD9:258.01|COHD:28127|SCTID:30664006|OMIM:131100|ICD10:D44.8|MedDRA:10028190|Orphanet:652	ordo_disease|gard_rare	endocrine adenomatosis multiple|MEA type I|men type I|multiple endocrine neoplasia type I|men 1|MEA 1|MEN1 syndrome|multiple endocrine neoplasia, type 1|MEN1 multiple endocrine neoplasia|men type 1|multiple endocrine adenomatosis, type I|multiple endocrine adenomatosis type I|Wermer syndrome|multiple endocrine neoplasia, type I|Wermer's syndrome|MEA type 1|multiple endocrine neoplasia caused by mutation in MEN1|multiple endocrine neoplasia type 1 syndrome|MEN1|MEN1 somatic mutations|MEN1|endocrine adenomatosis, multiple|multiple endocrine adenomatosis|multiple endocrine neoplasia, type I; MEN1|multiple endocrine adenomatosis type 1|multiple endocrine neoplasia type 1	http://purl.obolibrary.org/obo/MONDO_0007540	Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN, a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients.	UMLS:C0025267|ORPHA:652|MEDDRA:10028190|MESH:D018761|DOID:10017|SNOMEDCT:30664006|NCIT:C3225|http://identifiers.org/omim/131100
MONDO:0007541	endometriosis, susceptibility to, 1	biolink:Disease	mondo	OMIM:131200	predisposition	ENDO1|endometriosis, susceptibility to, type 1|endometriosis, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0007541		http://identifiers.org/omim/131200
MONDO:0020519	hand-Schuller-Christian disease	biolink:Disease	mondo	ICD9:277.89|UMLS:CN207416|ICDO:9753/1|Orphanet:99873|SCTID:39795003|ICD10:C96.5|NCIT:C6920	ordo_disease	multifocal Unisystem Langerhans cell histiocytosis|classic multifocal Langerhans cell histiocytosis|hand-SChüller-Christian disease|multifocal eosinophilic granuloma|hand-Schuller-Christian disease|chronic multifocal Langerhans cell histiocytosis|hand-SChüller-Christian disease	http://purl.obolibrary.org/obo/MONDO_0020519	A multifocal, unisystem form of Langerhans-cell histiocytosis. There is involvement of multiple sites in one organ system, most frequently the bone. Patients are usually young children presenting with multiple destructive bone lesions.	ORPHA:99873|UMLS:CN207416|SNOMEDCT:39795003|NCIT:C6920
HGNC:2593	CYP17A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2593		
MONDO:0020518	Hashimoto-Pritzker syndrome	biolink:Disease	mondo	UMLS:C1275336|Orphanet:99872|ICD10:C96.5|GARD:0002604|ICD9:277.89|SCTID:404160007|MESH:C535843	gard_rare|ordo_disease	Hashimoto-Pritzker disease|Hashimoto-Pritzker histiocytosis|congenital Langerhans cell histiocytosis	http://purl.obolibrary.org/obo/MONDO_0020518	Hashimoto-Pritzker histiocytosis (HPH) is a variant of Langerhans cell histiocytosis characterized by multiple disseminated skin lesions (firm, red-brown, painless papulo-nodules).	ORPHA:99872|MESH:C535843|UMLS:C1275336|SNOMEDCT:404160007
HGNC:2592	CYP11B2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2592		
HGNC:2591	CYP11B1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2591		
MONDO:0020517	eosinophilic granuloma	biolink:Disease	mondo	MESH:D004803|COHD:4044708|ICD10:C96.6|SCTID:129000002|Orphanet:99871|ICDO:9752/1|MedDRA:10014956|NCIT:C3016|UMLS:C0014461|ICD9:277.89	ordo_disease	eosinophilic granuloma|unifocal Langerhans cell histiocytosis|eosinophilic xanthomatous granuloma|chronic and localized Langerhans cell histiocytosis|Monostotic Langerhans cell histiocytosis|chronic unifocal Langerhans cell histiocytosis	http://purl.obolibrary.org/obo/MONDO_0020517	A clinical variant of Langerhans cell histiocytosis characterized by unifocal involvement of a bone (most often), skin, or lung. Patients are usually older children or adults usually presenting with a lytic bone lesion. The etiology is unknown. Morphologically, eosinophilic granuloma is characterized by the presence of Langerhans cells in a characteristic milieu which includes histiocytes, eosinophils, neutrophils, and small, mature lymphocytes.	ORPHA:99871|SNOMEDCT:129000002|NCIT:C3016|MESH:D004803|MEDDRA:10014956|UMLS:C0014461
HGNC:2590	CYP11A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2590		
MONDO:0020516	thymic neuroendocrine carcinoma	biolink:Disease	mondo	UMLS:CN207412|UMLS:C2210965|SCTID:716653001|ICD10:C37|Orphanet:99869	ordo_disease	neuroendocrine carcinoma of thymus|thymic neuroendocrine carcinoma|thymus neuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0020516	Thymic neuroendocrine carcinoma is a type of thymic epithelial neoplasm displaying evidence of neuroendocrine differentiation.	ORPHA:99869|UMLS:CN207412|UMLS:C2210965|SNOMEDCT:716653001
MONDO:0019537	hemoglobin D disease	biolink:Disease	mondo	NCIT:C35344|ICD9:282.7|SCTID:66729008|DOID:5378|MedDRA:10055019|UMLS:C0272080|ICD10:D58.2|Orphanet:90039	ordo_disease	hemoglobin D disease|Hb-D disease	http://purl.obolibrary.org/obo/MONDO_0019537	Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia).	ORPHA:90039|NCIT:C35344|DOID:5378|SNOMEDCT:66729008|MEDDRA:10055019|UMLS:C0272080
MONDO:0020515	obsolete thymic carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0020515		
MONDO:0019536	typical hemolytic-uremic syndrome	biolink:Disease	mondo	ICD10:D59.3|UMLS:CN206363|GARD:0006241|Orphanet:90038	ordo_disease|gard_rare	hemolytic-uremic syndrome with diarrhea|Sxt-HUS|typical HUS|D-plus hemolytic uremic syndrome (D+HUS)|Shiga-like toxin-associated HUS|D+HUS	http://purl.obolibrary.org/obo/MONDO_0019536	Typical hemolytic-uremic syndrome (typical HUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by Shigella dysentriae type 1 or E. Coli.	ORPHA:90038|UMLS:CN206363
MONDO:0020514	obsolete thymoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0020514		
MONDO:0020513	spermatocytic seminoma	biolink:Disease	mondo	Orphanet:99865|NCIT:C39921|UMLS:C0334517|DOID:7891|ICDO:9063/3|ICD10:C62.9|DOID:5834	ordo_disease	testicular spermatocytic seminoma|spermatocytic seminoma|spermatocytoma	http://purl.obolibrary.org/obo/MONDO_0020513	A rare variant of seminoma characterized by the presence of three cell types: round cells with eosinophilic cytoplasm, small cells with dark nucleus and a small amount of cytoplasm, and mono-or multinucleated giant cells. The neoplastic cells are not cohesive. There is an edematous stroma present; lymphocytic infiltrates are rarely seen. Most patients are older males.	DOID:5834|NCIT:C39921|UMLS:C0334517|DOID:7891|ORPHA:99865
MONDO:0019539	obsolete retinopathy of prematurity	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019539		
MONDO:0020512	precursor T-cell acute lymphoblastic leukemia	biolink:Disease	mondo	ICD10:C91.0|Orphanet:99861	ordo_disease	precursor T-cell acute lymphoblastic leukemia/lymphoma|T-ALL|precursor T-cell acute lymphocytic leukemia|precursor T-cell acute lymphocytic leukemia/lymphoma	http://purl.obolibrary.org/obo/MONDO_0020512		ORPHA:99861
MONDO:0019538	Gaisbock syndrome	biolink:Disease	mondo	SCTID:36874002|UMLS:C0541719|Orphanet:90041|UMLS:C2242785|MedDRA:10042217|GARD:0008402|UMLS:CN206365|NCIT:C27174|DOID:2838|MedDRA:10053885|ICD10:D75.1	ordo_disease	Pseudopolycythemia|Gaisbock's syndrome|GaisböCK syndrome|stress erythrocytosis|Pseudopolycythaemia|stress polycythemia|polycythemia, emotional|Gaisboeck's syndrome	http://purl.obolibrary.org/obo/MONDO_0019538	Polycythemia that is caused by stress.	ORPHA:90041|MEDDRA:10053885|UMLS:C2242785|SNOMEDCT:36874002|UMLS:C0541719|NCIT:C27174|UMLS:CN206365|DOID:2838|MEDDRA:10042217
MONDO:0019533	paroxysmal cold hemoglobinuria	biolink:Disease	mondo	Orphanet:90035|ICD10:D59.6|GARD:0007335|SCTID:127057004	ordo_disease	hemoglobinuria paroxysmal cold|Donath-Landsteiner syndrome|PCH|Donath-Landsteiner hemolytic anemia	http://purl.obolibrary.org/obo/MONDO_0019533	Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures.	MESH:C538618|SNOMEDCT:127057004|UMLS:C0272129|ORPHA:90035
MONDO:0019532	autoimmune hemolytic anemia, warm type	biolink:Disease	mondo	GARD:0007876|Orphanet:90033|UMLS:C0272118|ICD10:D59.1|NCIT:C162611|SCTID:3978000|MedDRA:10047822	ordo_disease	warm-reacting-antibody hemolytic anemia|wAHA|warm antibody AIHA|warm AIHA|warm antibody hemolytic anemia|wAIHA|warm antibody autoimmune hemolytic anemia	http://purl.obolibrary.org/obo/MONDO_0019532	Warm autoimmune hemolytic anemia is the most common form of autoimmune hemolytic anemia defined by the presence of warm autoantibodies against red blood cells (autoantibodies that are active at temperatures between 37-40B0C).	SNOMEDCT:3978000|NCIT:C162611|MEDDRA:10047822|UMLS:C0272118|ORPHA:90033
MONDO:0019535	drug-induced autoimmune hemolytic anemia	biolink:Disease	mondo	Orphanet:90037|SCTID:309742004|ICD10:D59.0	ordo_disease	drug-induced AIHA	http://purl.obolibrary.org/obo/MONDO_0019535	Drug-induced autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) that occurs as a reaction to therapeutic drugs, and can be due to various mechanisms.	ORPHA:90037|UMLS:C0391817|SNOMEDCT:309742004
MONDO:0019534	mixed-type autoimmune hemolytic anemia	biolink:Disease	mondo	Orphanet:90036|UMLS:C4305257|SCTID:718716008|ICD10:D59.1	ordo_disease	mixed AIHA	http://purl.obolibrary.org/obo/MONDO_0019534	Mixed autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures.	ORPHA:90036|UMLS:C4305257|SNOMEDCT:718716008
HGNC:2597	CYP1B1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2597		
MONDO:0019531	hemolytic anemia due to glutathione reductase deficiency	biolink:Disease	mondo	Orphanet:90030|ICD10:D55.1|OMIM:618660	ordo_disease	HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY	http://purl.obolibrary.org/obo/MONDO_0019531	Haemolytic anaemia due to glutathione reductase (GSR) deficiency is characterised by nearly complete absence of GSR activity in erythrocytes.	http://identifiers.org/omim/618660|ORPHA:90030
MONDO:0019530	non-syndromic syndactyly	biolink:Disease	mondo	ICD10:Q70.9|Orphanet:90025|MedDRA:10042778|UMLS:C0039075|NCIT:C87125|ICD10:Q70.4|ICD10:Q70.3|ICD10:Q70.2|ICD10:Q70.1|ICD10:Q70.0	ordo_group_of_disorders	nonsyndromic syndactyly|symphalangy|chromosome 2q35 duplication syndrome|webbing of digits|symphalangism|isolated syndactyly|syndactyly	http://purl.obolibrary.org/obo/MONDO_0019530	A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly.	MESH:D013576|NCIT:C87125|MEDDRA:10042778|UMLS:C0039075|ORPHA:90025
HGNC:2594	CYP19A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2594		
UBERON:0016398	lymph node of lower limb	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0016398	A lymph node that is part of a hindlimb.	
MONDO:0007559	PPR1	biolink:Disease	mondo	OMIM:132100|UMLS:C1868677		photoparoxysmal response 1; PPR1|photosensitivity|epilepsy, photogenic|PPR1|Photoconvulsive reaction|photoparoxysmal response 1|Ppr	http://purl.obolibrary.org/obo/MONDO_0007559		UMLS:C1868677|http://identifiers.org/omim/132100
NCBITaxon:29185	Rotaliida	organism taxon	mondo	GC_ID:1		Rotaliina	http://purl.obolibrary.org/obo/NCBITaxon_29185		
UBERON:0016392	mastoid lymph node	biolink:AnatomicalEntity	mondo			retro-auricular node|posterior auricular glands|mastoid node|postauricular lymph node|retro-auricular lymph node|mastoid glands|retroauricular lymph nodes	http://purl.obolibrary.org/obo/UBERON_0016392	The mastoid lymph nodes (retroauricular lymph nodes, posterior auricular glands), usually two in number, are situated on the mastoid insertion of the Sternocleidomastoideus, beneath the Auricularis posterior. Their afferent vessels drain the posterior part of the temporoparietal region, the upper part of the cranial surface of the auricula or pinna, and the back of the external acoustic meatus; their efferents pass to the superior deep cervical glands.	
MONDO:0007557	epidermolysis bullosa with congenital localized absence of skin and deformity of nails	biolink:Disease	mondo	OMIM:132000|ICD9:757.39|SCTID:2689001|DOID:0111347|MESH:C562638		epidermolysis bullosa with congenital localized absence of skin and deformity of nails|epidermolysis bullosa dystrophica, Bart type	http://purl.obolibrary.org/obo/MONDO_0007557		SNOMEDCT:2689001|DOID:0111347|http://identifiers.org/omim/132000|MESH:C562638
MONDO:0007558	benign occipital epilepsy	biolink:Disease	mondo	GARD:0002170|Orphanet:25968|OMIM:132090|ICD10:G40.0|UMLS:C1851549	ordo_disease|gard_rare	epilepsy, benign occipital; BOE|epilepsy, benign occipital|BOE	http://purl.obolibrary.org/obo/MONDO_0007558	Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes.	ORPHA:25968|http://identifiers.org/omim/132090|UMLS:C1851549
MONDO:0007555	epidermolysis bullosa simplex Ogna type	biolink:Disease	mondo	MESH:C535962|ICD9:757.39|GARD:0002148|ICD10:Q81.0|SCTID:398071000|Orphanet:79401|DOID:0060736|OMIM:131950	gard_rare|ordo_disease	EBS-O|epidermolysis bullosa simplex, Ogna type|epidermolysis bullosa simplex, Ogna type; EBSOG|EBS-Og|EBSOG	http://purl.obolibrary.org/obo/MONDO_0007555	Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering.	UMLS:C0432317|ORPHA:79401|MESH:C535962|SNOMEDCT:398071000|DOID:0060736|http://identifiers.org/omim/131950
MONDO:0020511	precursor B-cell acute lymphoblastic leukemia	biolink:Disease	mondo	Orphanet:99860|ICD10:C83.5|ICDO:9836/3|NCIT:C8644|ICD10:C91.0	ordo_disease	B-cell Acute Lymphoblastic Leukemia|B-ALL|B-cell acute lymphoblastic leukemia|B acute lymphoblastic leukemia|acute B cell lymphocytic leukemia|B-precursor ALL|precursor B-cell acute lymphocytic leukemia|B-cell type acute leukemia|B-cell acute lymphocytic leukemia|precursor B-cell acute lymphocytic leukemia/lymphoma|B cell acute lymphocytic leukemia|B cell precursor type acute leukemia|precursor B-lymphoblastic leukemia (B-precursor ALL)|B-cell lymphoblastic leukemia|B-cell precursor type acute leukemia|precursor B-cell acute lymphoblastic leukemia/lymphoma|precursor B-lymphoblastic leukemia|acute B-cell lymphocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0020511	The most frequent type of acute lymphoblastic leukemia. Approximately 75% of cases occur in children under six years of age. This is a good prognosis leukemia. In the pediatric age group the complete remission rate is approximately 95% and the disease free survival rate is 70%. Approximately 80% of children appear to be cured. In the adult age group the complete remission rate is 60-85%. (WHO, 2001)	NCIT:C8644|ORPHA:99860
NCBITaxon:29189	Ammonia	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_29189		
MONDO:0007556	epidermolysis bullosa simplex with mottled pigmentation	biolink:Disease	mondo	ICD9:757.39|GARD:0009737|OMIM:131960|DOID:0111346|MESH:C535959|Orphanet:79397|SCTID:254180002|ICD10:Q81.0	gard_rare|ordo_disease	speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering|EBS-MP|epidermolysis bullosa simplex with mottled pigmentation; EBSMP|speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering|EBS with mottled pigmentation|EBSMP|epidermolysis bullosa simplex with mottled pigmentation	http://purl.obolibrary.org/obo/MONDO_0007556	Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation.	DOID:0111346|ORPHA:79397|SNOMEDCT:254180002|UMLS:C0432316|MESH:C535959|http://identifiers.org/omim/131960
MONDO:0020510	idiopathic syringomyelia	biolink:Disease	mondo	SCTID:725001004|UMLS:C4511700|ICD10:G95.0|Orphanet:99858	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0020510	Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiably cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding.	UMLS:C4511700|SNOMEDCT:725001004|ORPHA:99858
MONDO:0007553	epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase	biolink:Disease	mondo	MESH:C565049|UMLS:C1851570|OMIM:131880		epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase	http://purl.obolibrary.org/obo/MONDO_0007553		MESH:C565049|UMLS:C1851570|http://identifiers.org/omim/131880
MONDO:0007554	generalized epidermolysis bullosa simplex, non-Dowling-Meara type	biolink:Disease	mondo	ICD9:757.39|OMIM:131900|GARD:0002147|Orphanet:79399|ICD10:Q81.0|SCTID:90496008	ordo_disease	epidermolysis bullosa simplex, Kobner type|epidermolysis bullosa simplex, generalized intermediate|epidermolysis bullosa simplex, generalized non-Dowling-Meara|EBS, generalized intermediate|epidermolysis bullosa simplex, Koebner type|EBS-K|epidermolysis bullosa simplex, Köbner type|EBS, generalized|generalized EBS|epidermolysis bullosa simplex, generalized|generalized EBS, non-Dowling-Meara type	http://purl.obolibrary.org/obo/MONDO_0007554	Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kobner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction.	UMLS:C0079299|SNOMEDCT:90496008|ORPHA:79399|MESH:C535961|http://identifiers.org/omim/131900
MONDO:0007551	localized epidermolysis bullosa simplex	biolink:Disease	mondo	ICD9:757.39|OMIM:131800|GARD:0002146|Orphanet:79400|SCTID:294705005|ICD10:Q81.0|DOID:0080510	ordo_disease|gard_rare	Weber-Cockayne type epidermolysis bullosa simplex|EBS, acral form|epidermolysis bullosa of hands and feet|Weber-Cockayne syndrome|EBS-loc|epidermolysis bullosa simplex, Weber-Cockayne type|epidermolysis bullosa simplex, localized|epidermolysis bullosa simplex of palms and soles	http://purl.obolibrary.org/obo/MONDO_0007551	Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.	DOID:0080510|ORPHA:79400|SNOMEDCT:294705005|http://identifiers.org/omim/131800
MONDO:0007552	pretibial dystrophic epidermolysis bullosa	biolink:Disease	mondo	ICD9:757.39|Orphanet:79410|OMIM:131850|MESH:C535494|ICD10:Q81.2|GARD:0002155|SCTID:67653003	ordo_disease	pretibial DEB|dystrophic epidermolysis bullosa, pretibial|pretibial epidermolysis bullosa|epidermolysis bullosa dystrophica, pretibial|Deb, pretibial|DEB-Pt|epidermolysis bullosa, pretibial	http://purl.obolibrary.org/obo/MONDO_0007552	Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region.	MESH:C535494|ORPHA:79410|SNOMEDCT:67653003|http://identifiers.org/omim/131850
UBERON:0016399	lymph node of upper limb	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0016399	A lymph node that is part of a forelimb.	
MONDO:0007550	epidermolysis bullosa simplex Dowling-Meara type	biolink:Disease	mondo	OMIM:131760|SCTID:254179000|GARD:0002141|Orphanet:79396|DOID:0060735|ICD9:771.2|ICD10:Q81.0	ordo_disease|gard_rare	EBS-DM|generalized severe epidermolysis bullosa simplex|epidermolysis bullosa simplex, generalized severe|EBS, generalized severe|epidermolysis bullosa simplex, herpetiformis|epidermolysis bullosa simplex, Dowling-Meara type|Dowling-Meara type epidermolysis bullosa simplex|epidermolysis bullosa herpetiformis, Dowling-Meara type|EBS-gen sev|epidermolysis bullosa herpetiformis Dowling-Meara type|epidermolysis bullosa simplex, Dowling-Meara type; EBSDM|EBSDM	http://purl.obolibrary.org/obo/MONDO_0007550	Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.	ORPHA:79396|DOID:0060735|http://identifiers.org/omim/131760|SNOMEDCT:254179000
MONDO:0020508	primary syringomyelia	biolink:Disease	mondo	SCTID:371076006|Orphanet:99856|ICD10:Q06.4|UMLS:C1299627	ordo_morphological_anomaly	congenital syringomyelia	http://purl.obolibrary.org/obo/MONDO_0020508		ORPHA:99856|UMLS:C1299627|SNOMEDCT:371076006
MONDO:0019529	radiation myelitis	biolink:Disease	mondo	ICD10:G97.8|ICD9:336.8|Orphanet:90021|SCTID:26037005	ordo_disease	radiation myelopathy|delayed radiation myelopathy	http://purl.obolibrary.org/obo/MONDO_0019529	A disease characterized by white matter damage to the spinal cord developed after a certain period of application of ionizing radiation.	ORPHA:90021|SNOMEDCT:26037005
MONDO:0020507	Cree leukoencephalopathy	biolink:Disease	mondo	Orphanet:99854|ICD10:E75.2	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0020507		ORPHA:99854
MONDO:0020506	ovarioleukodystrophy	biolink:Disease	mondo	UMLS:C1847967|Orphanet:99853|ICD10:E75.2	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0020506		ORPHA:99853|UMLS:C1847967
MONDO:0020505	ravine syndrome	biolink:Disease	mondo	SCTID:715794009|ICD10:E75.2|UMLS:CN207401|Orphanet:99852|UMLS:C4275006	ordo_disease	progressive encephalopathy with severe infantile anorexia|Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome	http://purl.obolibrary.org/obo/MONDO_0020505	Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies.	ORPHA:99852|UMLS:CN207401|SNOMEDCT:715794009|UMLS:C4275006
MONDO:0019526	erythema elevatum diutinum	biolink:Disease	mondo	SCTID:58872001|ICD9:695.89|DOID:0060567|MESH:C535509|UMLS:C0263398|ICD10:L95.1|MedDRA:10056968|GARD:0008653|Orphanet:90000	ordo_disease|gard_rare		http://purl.obolibrary.org/obo/MONDO_0019526	Erythema elevatum diutinum (EED) is a distinctive form of chronic cutaneous vasculitis, belonging to the group of the neutrophilic dermatoses.	ORPHA:90000|SNOMEDCT:58872001|MESH:C535509|UMLS:C0263398|DOID:0060567|MEDDRA:10056968
MONDO:0020504	genetic recurrent myoglobinuria	biolink:Disease	mondo	ICD10:R82.1|Orphanet:99845|SCTID:716721003	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0020504	Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers.	ORPHA:99845|SNOMEDCT:716721003
MONDO:0019525	tetrasomy X	biolink:Disease	mondo	UMLS:C0265496|ICD10:Q97.1|MESH:C536502|ICD9:758.81|SCTID:10567003|Orphanet:9|GARD:0007754	gard_rare|ordo_malformation_syndrome	tetra X|48,XXXX syndrome|quadruple X|48 XXXX syndrome|48 XXXX|tetrasomy type X	http://purl.obolibrary.org/obo/MONDO_0019525	Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX).	UMLS:C0265496|ORPHA:9|MESH:C536502|SNOMEDCT:10567003
MONDO:0020503	resistance to thyrotropin-releasing hormone syndrome	biolink:Disease	mondo	ICD10:E03.1|Orphanet:99832|SCTID:725462002|UMLS:CN207394	ordo_disease	TRH resistance syndrome|central hypothyroidism due to TRH receptor deficiency	http://purl.obolibrary.org/obo/MONDO_0020503	Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth.	ORPHA:99832|UMLS:CN207394|SNOMEDCT:725462002
MONDO:0020502	yellow fever	biolink:Disease	mondo	ICD9:060.9|GARD:0007914|UMLS:C0043395|MESH:D015004|ICD10:A95.9|MedDRA:10048240|ICD10:A95.1|ICD10:A95.0|Orphanet:99829|ICD9:060|DOID:9682|UMLS:C0043398|UMLS:C0043397|ICD10:A95|NCIT:C35547	gard_rare|ordo_disease	Yellow Jack|Yellow fever virus infectious disease|Yellow fever virus caused disease or disorder|Yellow fever virus disease or disorder|Yellow fever Virus infection|urban yellow fever|Yellow fever, sylvan|bronze John|sylvatic yellow fever|YF|jungle yellow fever	http://purl.obolibrary.org/obo/MONDO_0020502	Yellow fever (YF), caused by YF virus, is a zoonotic disease characterized by fever and constitutional symptoms, with the potential to progress to severe and fatal viral hemorrhagic fever with shock and multi-organ system failure.	ORPHA:99829|DOID:9682|MESH:D015004|MEDDRA:10048240|UMLS:C0043398|UMLS:C0043397|UMLS:C0043395|NCIT:C35547
MONDO:0019528	IgG4-related hepatopathy	biolink:Disease	mondo	Orphanet:90003|ICD10:K75.8	ordo_disease	inflammatory pseudotumor of the liver	http://purl.obolibrary.org/obo/MONDO_0019528	Inflammatory pseudotumor (IPT) of the liver is a rare benign tumor-like lesion.	ORPHA:90003
MONDO:0019527	undifferentiated connective tissue syndrome	biolink:Disease	mondo	UMLS:C0409999|NCIT:C116776|Orphanet:90002|SCTID:239918008|ICD10:M35.8|MedDRA:10071575	ordo_disease	undifferentiated connective tissue disease|UCTD	http://purl.obolibrary.org/obo/MONDO_0019527	An autoimmune disorder which does not meet classification criteria used to establish the presence of other well-defined connective tissue diseases.	UMLS:C0409999|MEDDRA:10071575|ORPHA:90002|NCIT:C116776|SNOMEDCT:239918008
MONDO:0020501	Crimean-Congo hemorrhagic fever	biolink:Disease	mondo	UMLS:C1304456|MESH:D006479|ICD9:065.0|NCIT:C34682|ICD10:A98.0|DOID:12287|UMLS:C0019099|Orphanet:99827|SCTID:402919000	ordo_disease	Congo hemorrhagic fever|Congo-Crimean hemorrhagic fever|Congo fever|Crimean-Congo haemorrhagic fever|CHF Congo virus|Crimean hemorrhagic fever|Crimean hemorrhagic fever [CHF Congo virus]|CCHF	http://purl.obolibrary.org/obo/MONDO_0020501	Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne zoonotic disease caused by CCHF virus and characterized by initial fever, headache, and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock, and multi-organ system failure.	ORPHA:99827|NCIT:C34682|UMLS:C0019099|DOID:12287|MESH:D006479|UMLS:C1304456|SNOMEDCT:402919000
MONDO:0019522	recessive dystrophic epidermolysis bullosa-generalized other	biolink:Disease	mondo	ICD10:Q81.2|UMLS:CN206337|GARD:0012794|Orphanet:89842	gard_rare|ordo_disease	RDEB, generalized intermediate|autosomal recessive dystrophic epidermolysis bullosa generalisata mitis|RDEB-O|RDEB generalisata mitis|RDEB, non-Hallopeau-Siemens type|RDEB-generalized other|autosomal recessive dystrophic epidermolysis bullosa, generalized other|recessive dystrophic epidermolysis bullosa, generalized intermediate|recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type|generalized mitis RDEB	http://purl.obolibrary.org/obo/MONDO_0019522	Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.	UMLS:CN206337|ORPHA:89842
CHEBI:23924	enzyme inhibitor	biolink:ChemicalSubstance	mondo			inhibiteurs enzymatiques|inhibiteur enzymatique|enzyme inhibitors|inhibidor enzimatico|enzyme inhibitor|inhibidores enzimaticos	http://purl.obolibrary.org/obo/CHEBI_23924	A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction.	
MONDO:0019521	centripetalis recessive dystrophic epidermolysis bullosa	biolink:Disease	mondo	UMLS:C4511056|SCTID:725419003|Orphanet:89841|ICD10:Q81.2	ordo_disease	RDEB, centripetalis|RDEB-Ce|centripetal dystrophic epidermolysis bullosa|centripetal recessive dystrophic epidermolysis bullosa	http://purl.obolibrary.org/obo/MONDO_0019521	Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB), characterized by blistering which begins acrally and then progressively spreads toward the trunk.	UMLS:C4511056|SNOMEDCT:725419003|ORPHA:89841
MONDO:0019524	infantile Bartter syndrome with sensorineural deafness	biolink:Disease	mondo	Orphanet:89938|ICD10:E26.8|GARD:0010508|SCTID:700112007|UMLS:C3838860|UMLS:CN206343	ordo_clinical_subtype	Bartter syndrome type 4|Bartter syndrome type IV|Bartter syndrome with sensorineural deafness	http://purl.obolibrary.org/obo/MONDO_0019524	Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II.	ORPHA:89938|SNOMEDCT:700112007|UMLS:CN206343|UMLS:C3838860
MONDO:0019523	obsolete Walker-Warburg syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019523		
MONDO:0019520	syndromic lymphedema	biolink:Disease	mondo	UMLS:CN227645|Orphanet:89832	ordo_group_of_disorders	syndromic lymphedema|syndrome associated with lymphedema|syndrome associated with lymphedema	http://purl.obolibrary.org/obo/MONDO_0019520	A lymphedema that is part of a larger syndrome.	UMLS:CN227645|ORPHA:89832
MONDO:0020509	secondary syringomyelia	biolink:Disease	mondo	Orphanet:99857|ICD10:G95.0	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0020509	Secondary syringomyelia is a rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of CSF circulation (e.g., due to basal archnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (e.g., due to trauma, radiation necrosis, hemorrhage, spinal abscess), spinal dysraphism or intramedullary tumours. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings.	ORPHA:99857
NCBITaxon:29171	Dictyocaulus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_29171		
MONDO:0007528	Ehlers-Danlos syndrome, autosomal dominant, type unspecified	biolink:Disease	mondo	MESH:C562424|UMLS:C0220679|OMIM:130090		EDS, unspecified type|Ehlers-Danlos syndrome, Friedman-Harrod type|Ehlers-Danlos syndrome, autosomal dominant, type unspecified	http://purl.obolibrary.org/obo/MONDO_0007528		MESH:C562424|UMLS:C0220679|http://identifiers.org/omim/130090
MONDO:0007529	elastosis perforans serpiginosa	biolink:Disease	mondo	OMIM:130100|SCTID:49428008|MedDRA:10014338|GARD:0010103|MESH:C536202|Orphanet:79148|ICD10:L87.2|UMLS:C0221271	ordo_disease|gard_rare	elastoma Intrapapillare perforans verruciformis|elastosis perforans serpiginosa; eps|eps|Miescher elastoma|elastosis perforans serpiginosa	http://purl.obolibrary.org/obo/MONDO_0007529		MEDDRA:10014338|http://identifiers.org/omim/130100|MESH:C536202|SNOMEDCT:49428008|ORPHA:79148|UMLS:C0221271
MONDO:0007526	Ehlers-Danlos syndrome progeroid type	biolink:Disease	mondo	MESH:C536201|DOID:0050802|Orphanet:75496|ICD10:Q79.6|SCTID:720861000|GARD:0009991|UMLS:C1869122	ordo_disease	PDS|Ehlers-Danlos syndrome, progeroid type (former)|XGPT deficiency|proteodermatan sulfate, defective biosynthesis of|dermatan sulfate proteoglycan|Ehlers-Danlos syndrome, spondylodysplastic type, 1; EDSSPD1|defective biosynthesis of proteodermatan sulfate|defective biosynthesis of proteodermatan sulfate|Ehlers-Danlos syndrome with short stature and limb anomalies|galactosyltransferase 1 deficiency|Ehlers-Danlos syndrome, progeroid type, 2|galactosyltransferase I deficiency|EDS, progeroid type|spondylodysplastic Ehlers-Danlos syndrome|xylosylprotein 4-beta-galactosyltransferase deficiency|B4GALT7-CDG|Ehlers-Danlos syndrome, progeroid type|Pds, defective biosynthesis of|Ehlers-Danlos syndrome, spondylodysplastic type, 1	http://purl.obolibrary.org/obo/MONDO_0007526	Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.	ORPHA:75496|UMLS:C1869122|MESH:C536201|SNOMEDCT:720861000|DOID:0050802
MONDO:0007527	Ehlers-Danlos syndrome, periodontitis type	biolink:Disease	mondo	MESH:C562626|GARD:0012474|ICD10:Q79.6|Orphanet:75392|SCTID:50869007	ordo_disease	Ehlers-Danlos syndrome, periodontosis type|EDS 8|Ehlers-Danlos syndrome, periodontitis type|Ehlers-Danlos syndrome type 8|EDS VIII|Ehlers-Danlos syndrome, type 8|pEDS|EDS VIII (formerly)|periodontal Ehlers-Danlos syndrome|periodontal EDS|Ehlers-Danlos syndrome type 8 (formerly)|Ehlers-Danlos syndrome, type VIII|EDS8|Ehlers-Danlos syndrome, type VIII (formerly)|EDS8 (formerly)	http://purl.obolibrary.org/obo/MONDO_0007527	Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.	MESH:C562626|http://identifiers.org/omim/130080|ORPHA:75392|SNOMEDCT:50869007
MONDO:0007524	autosomal dominant Ehlers-Danlos syndrome, vascular type	biolink:Disease	mondo	OMIM:130050|DOID:14756		Ehlers-Danlos syndrome, Ecchymotic type|Ehlers-Danlos syndrome, vascular type|Ehlers-Danlos syndrome, vascular type; EDSVASC|Ehlers-Danlos syndrome, type IV, autosomal dominant|Ehlers-Danlos syndrome, vascular type, autosomal dominant|Ehlers-Danlos syndrome, sack-Barabas type|EDS 4|autosomal dominant type IV Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, arterial type|EDSVASC	http://purl.obolibrary.org/obo/MONDO_0007524	The autosomal dominant form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported.	http://identifiers.org/omim/130050|DOID:14756
MONDO:0007525	Ehlers-Danlos syndrome, arthrochalasis type	biolink:Disease	mondo	MESH:C562625|NCIT:C125701|ICD10:Q79.6|GARD:0002084|SCTID:4170004|OMIM:130060|Orphanet:1899|UMLS:CN200649	ordo_disease|gard_rare	Ehlers-Danlos syndrome type 7|arthrochalasia Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, type VII, autosomal dominant|Ehlers-Danlos syndrome type 7A (formerly)|AEDS|EDS VII|EDS VII, mutant procollagen type|EDSARTH1|arthrochalasia EDS|arthrochalasis multiplex congenita|Ehlers-Danlos syndrome, arthrochalasia type|Ehlers-Danlos syndrome, arthrochalasia type, 1|Ehlers-Danlos syndrome, type VIIA, autosomal dominant|Ehlers-Danlos syndrome, arthrochalasia type, 1; EDSARTH1|Ehlers-Danlos syndrome, type VII|EDS 7B|EDS 7A|EDS7A (formerly)	http://purl.obolibrary.org/obo/MONDO_0007525	Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility ; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.	NCIT:C125701|MESH:C562625|http://identifiers.org/omim/130060|SNOMEDCT:4170004|UMLS:CN200649|ORPHA:1899
MONDO:0020500	Marburg hemorrhagic fever	biolink:Disease	mondo	MESH:D008379|NCIT:C84883|EFO:0007358|UMLS:C0024788|GARD:0009444|SCTID:77503002|MedDRA:10026822|DOID:4327|ICD9:078.89|Orphanet:99826|ICD10:A98.3	ordo_disease|gard_rare	Marburg disease|MHF|Marburg virus disease|Green monkey disease	http://purl.obolibrary.org/obo/MONDO_0020500	Marburg hemorrhagic fever (MHF), caused by Marburg virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure.	MESH:D008379|DOID:4327|SNOMEDCT:77503002|UMLS:C0024788|NCIT:C84883|MEDDRA:10026822|ORPHA:99826
MONDO:0007522	Ehlers-Danlos syndrome, classic type	biolink:Disease	mondo	GARD:0002088|SCTID:715318006|ICD10:Q79.6|Orphanet:287|UMLS:C4225429|OMIM:130000	ordo_disease	Ehlers-Danlos syndrome classical type|Ehlers-Danlos syndrome, classic type|Ehlers-Danlos syndrome classic type|Ehlers Danlos syndrome, mild classic type, formerly|Ehlers-Danlos syndrome, type II, formerly|Ehlers Danlos syndrome, mild classic type|EDS, classic type|EDSCL1|Ehlers-Danlos syndrome type 1 (formerly)|Ehlers-Danlos syndrome, severe classic type, formerly|Ehlers-Danlos syndrome, type II|Ehlers-Danlos syndrome, classic type, 1|classical Ehlers-Danlos syndrome|Ehlers-Danlos syndrome type 2 (formerly)|EDS I, formerly|Ehlers-Danlos syndrome, severe classic type|EDS II, formerly|Ehlers Danlos syndrome, mitis type, formerly|EDS I|Ehlers-Danlos syndrome, gravis type, formerly|EDS II|Ehlers Danlos syndrome, mitis type|Ehlers-Danlos syndrome, type I, formerly|Ehlers-Danlos syndrome, gravis type|Ehlers-Danlos syndrome type 2|classic Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, type I|Ehlers-Danlos syndrome, classic type, 1; EDSCL1	http://purl.obolibrary.org/obo/MONDO_0007522	Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility.	http://identifiers.org/omim/130000|SNOMEDCT:715318006|ORPHA:287|UMLS:C4225429
NCBITaxon:29178	Foraminifera	organism taxon	mondo	GC_ID:1		Foraminiferida|forams|foraminifers	http://purl.obolibrary.org/obo/NCBITaxon_29178		
MONDO:0007523	Ehlers-Danlos syndrome, hypermobility type	biolink:Disease	mondo	ICD10:Q79.6|OMIM:130020|NCIT:C125698|SCTID:30652003|Orphanet:285|GARD:0002081|DOID:14757|UMLS:C0268337|MESH:C536196	ordo_disease	EDSHMB|hypermobile EDS|EDS3 (formerly)|Ehlers-Danlos syndrome, hypermobility type|EDS III|Ehlers-Danlos syndrome type 3 (formerly)|benign joint hypermobility syndrome|Ehlers-Danlos syndrome, hypermobility type; EDSHMB|Ehlers-Danlos syndrome, type III|Ehlers-Danlos syndrome type 3|hEDS|Ehlers-Danlos syndrome, type 3|EDS 3|benign hypermobility syndrome|HT-EDS|BJHS|Ehlers-Danlos syndrome, hypermobile type|hypermobile Ehlers-Danlos syndrome	http://purl.obolibrary.org/obo/MONDO_0007523	Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS, a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.	UMLS:C0268337|http://identifiers.org/omim/130020|MESH:C536196|ORPHA:285|DOID:14757|SNOMEDCT:30652003|NCIT:C125698
MONDO:0007520	ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1	biolink:Disease	mondo	DOID:0060784|ICD10:Q82.4|OMIM:129900|MESH:C565062		EEC syndrome 1|ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 1; EEC1|EEC|ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 1|ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 1|EEC1	http://purl.obolibrary.org/obo/MONDO_0007520	An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3.	MESH:C565062|DOID:0060784|http://identifiers.org/omim/129900
MONDO:0007521	obsolete egasyn	biolink:Disease	mondo	OMIM:129905		esterase 22|egasyn	http://purl.obolibrary.org/obo/MONDO_0007521		http://identifiers.org/omim/129905
MONDO:0019519	obsolete rare skin disease	biolink:Disease	mondo	Orphanet:89826|UMLS:CN206332	obsoletion_candidate|ordo_group_of_disorders	rare skin disease	http://purl.obolibrary.org/obo/MONDO_0019519	Rare skin disease.	ORPHA:89826|UMLS:CN206332
MONDO:0019518	Waardenburg-Shah syndrome	biolink:Disease	mondo	UMLS:CN206330|NCIT:C124842|Orphanet:897|ICD10:Q87.8|GARD:0005524	ordo_disease|gard_rare	Waardenburg-Hirschsprung disease|WS4|Waardenburg-Shah syndrome|Waardenburg syndrome type IV|Hirschsprung disease with pigmentary anomaly|Waardenburg syndrome type 4|Shah-Waardenburg syndrome|Waardenburg-Hirschsprung syndrome	http://purl.obolibrary.org/obo/MONDO_0019518	Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease.	NCIT:C124842|ORPHA:897|UMLS:CN206330
MONDO:0019515	obsolete rare dementia	biolink:Disease	mondo	UMLS:CN227644|Orphanet:89043	obsoletion_candidate|ordo_group_of_disorders	rare dementia	http://purl.obolibrary.org/obo/MONDO_0019515	Rare dementia.	UMLS:CN227644|ORPHA:89043
MONDO:0019514	hepatic veno-occlusive disease	biolink:Disease	mondo	Orphanet:890|MedDRA:10047216|ICD9:453.89|ICD10:K76.5|DOID:0080177|GARD:0013004|NCIT:C26793|SCTID:65617004|MESH:D006504|UMLS:C0019156	gard_rare|ordo_disease	liver veno-occlusive disease|hepatic Vod|veno-occlusive disease|sinusoidal obstruction syndrome	http://purl.obolibrary.org/obo/MONDO_0019514	Hepatic veno-occlusive disease (hepatic VOD) is a condition resulting from toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins.	SNOMEDCT:65617004|DOID:0080177|MEDDRA:10047216|UMLS:C0019156|ORPHA:890|MESH:D006504|NCIT:C26793
MONDO:0019517	Waardenburg syndrome type 2	biolink:Disease	mondo	NCIT:C75009|UMLS:C2700265|MESH:C536463|Orphanet:895|GARD:0005520|ICD10:E70.3	gard_rare|ordo_clinical_subtype	WS2|Waardenburg syndrome type II|WS type 2|WS 2	http://purl.obolibrary.org/obo/MONDO_0019517	Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum.	UMLS:C2700265|NCIT:C75009|MESH:C536463|ORPHA:895
MONDO:0019516	exudative vitreoretinopathy	biolink:Disease	mondo	GARD:0001613|ICD10:H35.0|ICD9:362.10|DOID:0050535|OMIMPS:133780|Orphanet:891|ICD10:H35.00|MESH:C580083|UMLS:C4072980|SCTID:232063007	ordo_disease	FEVR|Criswick-Schepens syndrome|familial exudative vitreoretinopathy|exudative vitreoretinopathy, familial	http://purl.obolibrary.org/obo/MONDO_0019516	Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.	UMLS:C0339539|DOID:0050535|ORPHA:891|SNOMEDCT:232063007|MESH:C580083|UMLS:C4072980
MONDO:0019511	autosomal dominant medullary cystic kidney disease with hyperuricemia	biolink:Disease	mondo	UMLS:CN206322|Orphanet:88950|GARD:0010679|ICD10:Q61.5	ordo_clinical_subtype	UMOD-related ADTKD|autosomal dominant medullary cystic kidney disease type 2|ADTKD-UMOD|ADMCKD2|UMOD-related autosomal dominant tubulointerstitial kidney disease	http://purl.obolibrary.org/obo/MONDO_0019511	An inherited disorder that causes a gradual loss of kidney function that eventually leads to the need for kidney transplantation or dialysis between the ages of 30 and 70, which is caused by a mutation in the UMOD gene, which leads to the build-up of the altered uromodulin protein in the tubules of the kidney, leading to slow loss of kidney function. Patients with ADTKD-UMOD have high blood levels of uric acid before kidney failure develops, and some affected individuals may develop gout.	ORPHA:88950|UMLS:CN206322
MONDO:0019510	obsolete autosomal dominant medullary cystic kidney disease without hyperuricemia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019510		
MONDO:0019513	esophageal malformation	biolink:Disease	mondo	Orphanet:88993	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019513		ORPHA:88993
MONDO:0019512	congenital heart malformation	biolink:Disease	mondo	EFO:0005269|Orphanet:88991	ordo_group_of_disorders	rare congenital non-syndromic heart malformation|disorder of heart development|congenital non-syndromic heart malformation|heart development disease|congenital heart malformation|disorder of heart development	http://purl.obolibrary.org/obo/MONDO_0019512	A disease that has its basis in the disruption of heart development.	ORPHA:88991
MONDO:0007539	encephalopathy, recurrent, of childhood	biolink:Disease	mondo	OMIM:130950|MESH:C536407|GARD:0002117|Orphanet:2672	gard_rare	encephalopathy, recurrent, of childhood|Neuhauser Eichner Opitz syndrome|encephalopathy recurrent of childhood	http://purl.obolibrary.org/obo/MONDO_0007539		http://identifiers.org/omim/130950|ORPHA:2672|MESH:C536407
MONDO:0007537	lateral meningocele syndrome	biolink:Disease	mondo	DOID:0111343|ICD10:Q87.5|Orphanet:2789|UMLS:C1851710|MESH:C537878|OMIM:130720|GARD:0009873	ordo_malformation_syndrome	Lehman syndrome|LMNS|lateral meningocele syndrome; LMNS|Lms|lateral meningocele syndrome	http://purl.obolibrary.org/obo/MONDO_0007537		UMLS:C1851710|UMLS:C0344487|ORPHA:2789|http://identifiers.org/omim/130720|DOID:0111343|MESH:C537878
MONDO:0007538	amelogenesis imperfecta, type 3A	biolink:Disease	mondo	Orphanet:100032|DOID:0110055|ICD10:K00.5|MESH:C562880|SCTID:109471001|OMIM:130900	ordo_clinical_subtype	autosomal dominant amelogenesis imperfecta hypocalcification type|amelogenesis imperfecta, type 3|amelogenesis imperfecta, type III|AI3|amelogenesis imperfecta caused by mutation in FAM83H|FAM83H amelogenesis imperfecta|amelogenesis imperfecta, type IIIA; AI3A|amelogenesis imperfecta, hypocalcification type, autosomal dominant|amelogenesis imperfecta type 3|amelogenesis imperfecta type 3A|amelogenesis imperfecta hypomineralization type|amelogenesis imperfecta, type 3A|amelogenesis imperfecta, type III; AI3|AI3A|amelogenesis imperfecta type III|ADHCAI|amelogenesis imperfecta, hypomineralization type	http://purl.obolibrary.org/obo/MONDO_0007538	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the FAM83H gene.	MESH:C562880|http://identifiers.org/omim/130900|DOID:0110055|SNOMEDCT:109471001|ORPHA:100032
MONDO:0007535	emphysema, hereditary pulmonary	biolink:Disease	mondo	MESH:C565057|OMIM:130700|UMLS:C1851718		emphysema, hereditary pulmonary	http://purl.obolibrary.org/obo/MONDO_0007535		UMLS:C1851718|http://identifiers.org/omim/130700|MESH:C565057
MONDO:0007536	congenital lobar emphysema	biolink:Disease	mondo	NCIT:C98895|ICD10:Q33.8|OMIM:130710|SCTID:66987001|Orphanet:1928|GARD:0002104|UMLS:C0265797|MedDRA:10010456|MESH:C535735	ordo_morphological_anomaly	infantile lobar hyperinflation|emphysema, congenital lobar|CLE|emphysema, congenital lobar; CLE|congenital lobar hyperinflation	http://purl.obolibrary.org/obo/MONDO_0007536	Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung.	http://identifiers.org/omim/130710|MEDDRA:10010456|ORPHA:1928|UMLS:C0265797|SNOMEDCT:66987001|MESH:C535735|NCIT:C98895
MONDO:0007533	elliptocytosis 2	biolink:Disease	mondo	MESH:C565058|UMLS:C1851741|OMIM:130600		elliptocytosis 2|elliptocytosis, Rhesus-unlinked type|SPTA1 hereditary elliptocytosis|EL2|elliptocytosis type 2|elliptocytosis 2; EL2|hereditary elliptocytosis caused by mutation in SPTA1	http://purl.obolibrary.org/obo/MONDO_0007533	Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene.	UMLS:C1851741|http://identifiers.org/omim/130600|MESH:C565058
MONDO:0007534	Beckwith-Wiedemann syndrome	biolink:Disease	mondo	OMIM:130650|NCIT:C34415|SCTID:81780002|ICD10:Q87.3|MESH:D001506|GARD:0003343|UMLS:C0004903|Orphanet:116|ICD9:759.89|DOID:5572|MedDRA:10050344	gard_rare|ordo_malformation_syndrome	exomphalos-macroglossia-gigantism syndrome|Beckwith-Wiedemann syndrome; BWS|EMG syndrome|Beckwith-Wiedemann syndrome chromosome region|Wiedemann-Beckwith syndrome (WBS)|Beckwith-Wiedemann syndrome|Wiedemann-Beckwith syndrome|exomphalos macroglossia gigantism syndrome|BWS|BWS	http://purl.obolibrary.org/obo/MONDO_0007534	Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations.	UMLS:C0004903|http://identifiers.org/omim/130650|MESH:D001506|ORPHA:116|DOID:5572|NCIT:C34415|MEDDRA:10050344|SNOMEDCT:81780002
FOODON:03460130	physical/chemical modification process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03460130		
MONDO:0007531	electroencephalographic peculiarity: fronto-precentral beta wave groups	biolink:Disease	mondo	OMIM:130300		electroencephalographic peculiarity: fronto-precentral beta wave groups	http://purl.obolibrary.org/obo/MONDO_0007531		http://identifiers.org/omim/130300
MONDO:0007532	Electroencephalographic peculiarity: occipital slow beta waves	biolink:Disease	mondo	OMIM:130400		Electroencephalographic peculiarity: occipital slow beta waves	http://purl.obolibrary.org/obo/MONDO_0007532		http://identifiers.org/omim/130400
MONDO:0007530	electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon	biolink:Disease	mondo	OMIM:130200		electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon	http://purl.obolibrary.org/obo/MONDO_0007530		http://identifiers.org/omim/130200
NCBITaxon:29169	Ancylostoma	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_29169		
MONDO:0019508	van der Woude syndrome	biolink:Disease	mondo	Orphanet:888|NCIT:C74986|ICD10:Q38.0|DOID:0060239|UMLS:C0175697|GARD:0008414|ICD9:744.89|MESH:C536528|SCTID:79261008	ordo_malformation_syndrome	cleft lip/palate with mucous cysts of lower lip|cleft lip and/or palate with mucous cysts of lower lip|LPS|lip-pit syndrome|VWS|lip pit syndrome|lip-pit syndrome	http://purl.obolibrary.org/obo/MONDO_0019508	Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate.	NCIT:C74986|UMLS:C0175697|SNOMEDCT:79261008|MESH:C536528|ORPHA:888|DOID:0060239
MONDO:0019507	amelogenesis imperfecta	biolink:Disease	mondo	ICD10:K00.5|CSP:0828-0533|SCTID:78494001|MESH:D000567|ICD9:520.5|Orphanet:88661|GARD:0005791|OMIMPS:104500|DOID:2187	ordo_disease|gard_rare|clingen		http://purl.obolibrary.org/obo/MONDO_0019507	Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body.	UMLS:C0002452|ORPHA:88661|MESH:D000567|DOID:2187|SNOMEDCT:78494001
MONDO:0019509	cutaneous leukocytoclastic angiitis	biolink:Disease	mondo	SCTID:718217000|NCIT:C122919|ICD10:M31.0|Orphanet:889|COHD:196431|GARD:0007851	ordo_disease	cutaneous small vessel vasculitis|cutaneous small-vessel vasculitis|cutaneous leukocytoclastic vasculitis|cutaneous hypersensitivity vasculitis|leukocytoclastic angiitis|hypersensitivity angiitis	http://purl.obolibrary.org/obo/MONDO_0019509	Cutaneous leukocytoclastic angiitis is a small-vessel vasculitis presenting with palpable purpura and urticarial lesions which predate the purpuric lesions most frequently observed on the legs. Systemic symptoms including fever, cough, hemoptysis, sinusitis, arthralgia, arthritis, myalgia, abdominal pain, diarrhea, hematochezia, paresthesia, weakness, and hematuria may be observed. Skin biopsy reveals exudates rich in neutrophils, endothelial damage, fibrin deposition, and leukocytoclasis in postcapillary venules of small vessels. Cutaneous leukocytoclastic angiitis can be idiopathic (in up to 50% of cases) or secondary to infections, medications (such as antituberculosis medication), collagen vascular diseases, or neoplasms.	SNOMEDCT:718217000|NCIT:C122919|ORPHA:889
UBERON:0004395	epiphysis of first metatarsal bone	biolink:AnatomicalEntity	mondo			first metatarsal bone epiphysis|metatarsal 1 epiphysis	http://purl.obolibrary.org/obo/UBERON_0004395	An epiphysis that is part of a metatarsal bone of digit 1 [Automatically generated definition].	
MONDO:0019504	superior limbic keratoconjunctivitis	biolink:Disease	mondo	SCTID:231903005|UMLS:C0339229|GARD:0010940|ICD10:H16.2|ICD9:370.49|Orphanet:88633	ordo_disease|gard_rare	Theodore's syndrome|Theodore's superior limbic keratoconjunctivitis|SLK|Theodores syndrome|Theodores superior limbic keratoconjunctivitis	http://purl.obolibrary.org/obo/MONDO_0019504	Superior limbic keratoconjunctivitis (SLK) is a chronic and recurrent eye disease which affects thesuperior bulbar conjunctiva (the clear layer that covers the eyeball, over the sclera) and tarsal conjunctiva (the clear layer that lines the eyelids), as well as the superior limbic aspect of the cornea (the area above the cornea). It is commonly found in women 20-70 years of age. The signs and symptoms include burning, redness and irritation and tend to develop slowly over a period of 1 to 10 years.Vision usually remains intact. While the underlying cause ofSLK remains unknown, it is believed that the condition issecondary to superior bulbar conjunctiva laxity. Factors inducing conjunctiva laxity include thyroid eye disease (usually hyperthyroidism), tight upper eyelids, and prominent globes. A mimicking disorder has been encountered in soft contact lens (SCL) wearers, typically with exposure to thimerosal-preserved solutions. Treatment of SLK may involve the use of various medications, surgery, or a combination of both.	ORPHA:88633|SNOMEDCT:231903005|UMLS:C0339229
MONDO:0019503	anterior segment dysgenesis	biolink:Disease	mondo	DC:0000735|OMIMPS:107250|ICD9:743.49|ICD10:Q13.8|Orphanet:88632|GARD:0010025|SCTID:65075004	ordo_group_of_disorders|gard_rare	ASMD|ASOD|anterior segment ocular dysgenesis|anterior segment mesenchymal dysgenesis|FOXE3-related ocular disorder|familial ocular anterior segment mesenchymal dysgenesis|ASGD	http://purl.obolibrary.org/obo/MONDO_0019503	A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis).	SNOMEDCT:65075004|ORPHA:88632
UBERON:0004390	epiphysis of metacarpal bone	biolink:AnatomicalEntity	mondo			metacarpal bone epiphysis|epiphysis of metacarpal|metacarpal epiphysis	http://purl.obolibrary.org/obo/UBERON_0004390	An epiphysis that is part of a metacarpal bone [Automatically generated definition].	
MONDO:0019506	obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome	biolink:Disease	mondo	SCTID:722051004|Orphanet:88643|UMLS:CN227640	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019506	Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established.	ORPHA:88643|SNOMEDCT:722051004|UMLS:CN227640
UBERON:0004391	epiphysis of first metacarpal bone	biolink:AnatomicalEntity	mondo			first metacarpal bone epiphysis|metacarpal 1 epiphysis	http://purl.obolibrary.org/obo/UBERON_0004391	An epiphysis that is part of a metacarpal bone of digit 1 [Automatically generated definition].	
MONDO:0019505	hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome	biolink:Disease	mondo	Orphanet:88637|UMLS:CN206304|ICD10:G11.1	ordo_disease	4H syndrome	http://purl.obolibrary.org/obo/MONDO_0019505	Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome is characterised by the association of demyelinating leukodystrophy with progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia.	ORPHA:88637|UMLS:CN206304
MONDO:0019500	extragonadal teratoma	biolink:Disease	mondo	MedDRA:10043276|SCTID:768937006|Orphanet:883	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019500	Extragonadal teratoma is an extremely rare, benign or malignant germ cell tumor characterized, clinically, by a teratoma presenting in an extragonadal location (e.g. retroperitoneum, mediastinum, craniofacial or sacrococcygeal region, intraosseous, solid organs) and, histologically, by displaying well-differentiated structures, as well as immature elements. Presenting symptoms are variable depending on size and location of tumor.	UMLS:C0039538|MESH:D013724|ORPHA:883|MEDDRA:10043276|SNOMEDCT:768937006
MONDO:0019502	autosomal recessive non-syndromic intellectual disability	biolink:Disease	mondo	DOID:0060308|UMLS:CN206293|OMIMPS:249500|Orphanet:88616		autosomal recessive non-syndromic mental retardation|autosomal recessive mental retardation|AR-NSID|autosomal recessive intellectual disability|mental retardation, autosomal recessive|autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive|NS-ARID|non-syndromic intellectual disability, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0019502	Autosomal recessive form of non-syndromic intellectual disability.	ORPHA:88616|UMLS:CN206293|DOID:0060308
MONDO:0019501	Usher syndrome	biolink:Disease	mondo	Orphanet:886|NCIT:C85217|ICD10:H35.5|DOID:0050439|MedDRA:10063396|MESH:D052245|OMIMPS:276900|GARD:0007843|UMLS:C0271097	ordo_disease	deafness-retinitis pigmentosa syndrome|Graefe-Usher syndrome|dystrophia retinae pigmentosa-dysostosis syndrome|Hallgren syndrome|retinitis pigmentosa-deafness syndrome|Usher's syndrome|ush	http://purl.obolibrary.org/obo/MONDO_0019501	Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss.	UMLS:C0271097|DOID:0050439|MEDDRA:10063396|ORPHA:886|MESH:D052245|NCIT:C85217
CHEBI:23906	monoatomic cation	biolink:ChemicalSubstance	mondo			monoatomic cations	http://purl.obolibrary.org/obo/CHEBI_23906		
UBERON:0004399	epiphysis of fifth metatarsal bone	biolink:AnatomicalEntity	mondo			fifth metatarsal bone epiphysis|metatarsal 5 epiphysis	http://purl.obolibrary.org/obo/UBERON_0004399	An epiphysis that is part of a metatarsal bone of digit 5 [Automatically generated definition].	
CHEBI:23905	monoatomic anion	biolink:ChemicalSubstance	mondo			monoatomic anions	http://purl.obolibrary.org/obo/CHEBI_23905		
GO:0042088	T-helper 1 type immune response	biolink:OntologyClass	mondo			Th1 immune response	http://purl.obolibrary.org/obo/GO_0042088	An immune response which is associated with resistance to intracellular bacteria, fungi, and protozoa, and pathological conditions such as arthritis, and which is typically orchestrated by the production of particular cytokines by T-helper 1 cells, most notably interferon-gamma, IL-2, and lymphotoxin.	
UBERON:0006960	ovary stroma	biolink:AnatomicalEntity	mondo			stroma ovarica|stroma ovarii|ovary stroma|interstitial tissue of ovary|stroma of the ovary|ovarian stroma	http://purl.obolibrary.org/obo/UBERON_0006960	The stroma of the ovary is a peculiar soft tissue, abundantly supplied with blood vessels, consisting for the most part of spindle-shaped cells with a small amount of ordinary connective tissue. These cells have been regarded by some anatomists as unstriped muscle cells, which, indeed, they most resemble; by others as connective-tissue cells. On the surface of the organ this tissue is much condensed, and forms a layer composed of short connective-tissue fibers, with fusiform cells between them. The stroma of the ovary may contain interstitial cells resembling those of the testis.	
CHEBI:33352	manganese group element atom	biolink:ChemicalSubstance	mondo			manganese group element|group 7 elements|manganese group elements	http://purl.obolibrary.org/obo/CHEBI_33352		
CHEBI:33356	iron group element atom	biolink:ChemicalSubstance	mondo			group 8 elements|iron group element|iron group elements	http://purl.obolibrary.org/obo/CHEBI_33356		
CHEBI:33358	cobalt group element atom	biolink:ChemicalSubstance	mondo			cobalt group elements|group 9 elements|cobalt group element	http://purl.obolibrary.org/obo/CHEBI_33358		
PATO:0002266	3-D shape	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0002266	A shape that inheres in a 3 dimensional entity.	
UBERON:0006966	coronary capillary	biolink:AnatomicalEntity	mondo			heart capillary	http://purl.obolibrary.org/obo/UBERON_0006966	A capillary that is part of the coronary system.	
GO:0019730	antimicrobial humoral response	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0019730	An immune response against microbes mediated through a body fluid. Examples of this process are seen in the antimicrobial humoral response of Drosophila melanogaster and Mus musculus.	
UBERON:0006965	vascular cord	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006965	The vascular cord is the primordial vasculature that will develop into blood vessels by the process of tubulogenesis[GO]. The vascular cord is composed of angioblast or vascular endothelial cells in a solid linear mass called a cord. The cord then undergoes tubulogenesis to form the lumen of the vessels[ZFA].	
UBERON:0006964	pars distalis of adenohypophysis	biolink:AnatomicalEntity	mondo			pars distalis|pars distalis (glandula pituitaria)|pars distalis lobi anterioris hypophyseos|DHP|distal part of the hypophysis|pars glandularis|pars distalis of anterior lobe of pituitary gland|pars glandularis of adenohypophysis|pars anterior of adenohypophysis|pars anterior|anterior lobe|pars distalis adenohypophysis|pars distalis (hypophysis)|distal part of hypophysis|pars distalis adenohypophyseos	http://purl.obolibrary.org/obo/UBERON_0006964	The distal part of adenohypophysis: the part that makes up the main body of the gland.	
UBERON:0004301	middle phalanx	biolink:AnatomicalEntity	mondo			phalanx II|intermediate phalanx|penultimate phalanx|medial phalanx|phalanx 2	http://purl.obolibrary.org/obo/UBERON_0004301	A phalanx located between proximal and distal phalanges.	
UBERON:0004302	proximal phalanx	biolink:AnatomicalEntity	mondo			phalanx I|proximal-most phalanx|phalanx 1	http://purl.obolibrary.org/obo/UBERON_0004302	Proximal-most phalanx within a digit.	
UBERON:0004300	distal phalanx	biolink:AnatomicalEntity	mondo			terminal phalanx|phalanx distalis|phalanx distalis|ungual phalanx	http://purl.obolibrary.org/obo/UBERON_0004300	Distal-most phalanx within a digit.	
GO:0042092	type 2 immune response	biolink:OntologyClass	mondo			T-helper 2 type immune response|Th2 immune response	http://purl.obolibrary.org/obo/GO_0042092	An immune response which is associated with resistance to extracellular organisms such as helminths and pathological conditions such as allergy, which is orchestrated by the production of particular cytokines, most notably IL-4, IL-5, IL-10, and IL-13, by any of a variety of cell types including T-helper 2 cells, eosinophils, basophils, mast cells, and nuocytes, resulting in enhanced production of certain antibody isotypes and other effects.	
UBERON:0006948	efferent duct epithelium	biolink:AnatomicalEntity	mondo			epithelium of efferent ductule of testis	http://purl.obolibrary.org/obo/UBERON_0006948	An epithelium that is part of a efferent duct.	
UBERON:0006947	male genital duct	biolink:AnatomicalEntity	mondo			sperm ducts|sperm duct	http://purl.obolibrary.org/obo/UBERON_0006947	A duct or series of ducts that transports sperm from the gonad. In mammals this is from the seminiferous tubules through rete testis, vas efferentia, epididymis, vas deferens, ejeculatory duct to the urethra.	
GO:0005102	signaling receptor binding	biolink:OntologyClass	mondo			receptor ligand|receptor binding|receptor-associated protein activity	http://purl.obolibrary.org/obo/GO_0005102	Interacting selectively and non-covalently with one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.	
GO:0019747	regulation of isoprenoid metabolic process	biolink:OntologyClass	mondo			regulation of isoprenoid metabolism	http://purl.obolibrary.org/obo/GO_0019747	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving isoprenoids.	
UBERON:0006957	submandibular gland primordium epithelium	biolink:AnatomicalEntity	mondo			submaxillary gland primordium epithelium	http://purl.obolibrary.org/obo/UBERON_0006957	An epithelium that is part of a submandibular gland primordium.	
UBERON:0006956	buccal mucosa	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006956	The inner lining of the cheeks and lips.	
UBERON:0006955	uterine epithelium	biolink:AnatomicalEntity	mondo			uterus epithelium	http://purl.obolibrary.org/obo/UBERON_0006955	An epithelium that is part of a uterus.	
UBERON:0006953	ejaculatory duct epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006953	The ejaculatory duct epithelium is composed of cuboidal to columnar cells between or through which project the terminal parts of the ducts of the unicellular prostate glands.	
CHEBI:33362	nickel group element atom	biolink:ChemicalSubstance	mondo			nickel group element|nickel group elements|group 10 elements	http://purl.obolibrary.org/obo/CHEBI_33362		
UBERON:0006938	pinna surface epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006938	An epithelium that is part of a pinna.	
UBERON:0006937	inner ear epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006937	the epithelial cell layer containing the sensory hair cells and their associated sensory nerve terminals	
UBERON:0006936	thymus subcapsular epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006936	the epithelial cells lining the capsule and trabeculae of the thymus	
CHEBI:35992	penams	biolink:ChemicalSubstance	mondo			penams	http://purl.obolibrary.org/obo/CHEBI_35992	Natural and synthetic antibiotics containing the 4-thia-1-azabicyclo[3.2.0]heptan-7-one structure, generally assumed to have the 5R configuration unless otherwise specified.	
UBERON:0006946	efferent duct	biolink:AnatomicalEntity	mondo			seminal duct|efferent ductule|vasa efferentia|ductuli efferentes testis	http://purl.obolibrary.org/obo/UBERON_0006946	The efferent ducts (or efferent ductules or ductuli efferentes) connect the rete testis with the initial section of the epididymis. The ductuli are unilaminar and composed of columnar ciliated and non-ciliated (absorptive) cells. The ciliated cells serve to stir the luminal fluids, possibly to help ensure homogeneous absorption of water from the fluid produced by the testis, which results in an increase in the concentration of luminal sperm. The epithelium is surrounded by a band of smooth muscle that helps to propel the sperm toward the epididymis.	
UBERON:0006929	glandular columnar epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006929	Simple columnar epithelium that constitutes the secretory part of a gland. Examples: epithelium of stomach, luminal epithelium of lactiferous duct.[FMA]	
UBERON:0006925	digestive system gland	biolink:AnatomicalEntity	mondo			digestive gland	http://purl.obolibrary.org/obo/UBERON_0006925	Any gland that is part of the digestive system.	
GO:0019724	B cell mediated immunity	biolink:OntologyClass	mondo			B-cell mediated immunity|B lymphocyte mediated immunity|B-lymphocyte mediated immunity|B-lymphocyte mediated immune effector process|B lymphocyte mediated immune effector process|B-cell mediated immune effector process	http://purl.obolibrary.org/obo/GO_0019724	Any process involved with the carrying out of an immune response by a B cell, through, for instance, the production of antibodies or cytokines, or antigen presentation to T cells.	
GO:0019725	cellular homeostasis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0019725	Any process involved in the maintenance of an internal steady state at the level of the cell.	
FOODON:03315468	shellfish meat (whole or parts)	biolink:OntologyClass	mondo	SUBSET_SIREN:F15468	"subset_siren"		http://purl.obolibrary.org/obo/FOODON_03315468		
UBERON:0006934	sensory epithelium	biolink:AnatomicalEntity	mondo			neuroepithelium	http://purl.obolibrary.org/obo/UBERON_0006934	Simple columnar epithelium made up of cells specialized to serve as sensory cells for the reception of external stimuli, as the sensory cells of the cochlea, vestibule, nasal mucosa, and tongue.	
HGNC:2501	CTH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2501		
UBERON:0006932	vestibular epithelium	biolink:AnatomicalEntity	mondo			vestibular sensory epithelium|inner ear vestibular component epithelium|epithelium of vestibular labyrinth	http://purl.obolibrary.org/obo/UBERON_0006932	An epithelium that is part of a vestibular labyrinth.	
UBERON:0006931	stomach glandular region mucosa	biolink:AnatomicalEntity	mondo			stomach glandular region glandular mucous membrane	http://purl.obolibrary.org/obo/UBERON_0006931	stomach mucosa that is lined with glandular epithelium and part of a stomach glandular region.	
CHEBI:33340	zinc group element atom	biolink:ChemicalSubstance	mondo			group 12 elements|zinc group elements|zinc group element	http://purl.obolibrary.org/obo/CHEBI_33340		
HGNC:2509	CTNNA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2509		
HGNC:2505	CTLA4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2505		
CHEBI:33318	main group element atom	biolink:ChemicalSubstance	mondo			main group element|main group elements|Hauptgruppenelemente|Hauptgruppenelement	http://purl.obolibrary.org/obo/CHEBI_33318	An atom belonging to one of the main groups (found in the s- and p- blocks) of the periodic table.	
UBERON:0004341	primitive streak	biolink:AnatomicalEntity	mondo			primitive streak - blastopore - germ ring	http://purl.obolibrary.org/obo/UBERON_0004341	The primitive streak is a structure that forms during the early stages of avian, reptilian and mammalian embryonic development[WP]. the midline ridge of the embryonic epiblast that later develops into mesoderm and endoderm[MP]	
UBERON:0004340	allantois	biolink:AnatomicalEntity	mondo			allantoic bud	http://purl.obolibrary.org/obo/UBERON_0004340	A membranous sac that develops from the posterior part of the alimentary canal in the embryos of mammals, birds, and reptiles, and it is important in the formation of the umbilical cord and placenta in mammals[VHOG].	
UBERON:0004347	limb bud	biolink:AnatomicalEntity	mondo			limbbud|gemmae membrorum|limb buds	http://purl.obolibrary.org/obo/UBERON_0004347	An outgrowth on the lateral trunk of the embryo that develops into a limb. The limb bud is divided into ectoderm and mesenchyme[cjm, modified from MP].	
HGNC:2511	CTNNA3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2511		
UBERON:0004348	optic eminence	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004348	The embryonic structure that gives rise to the corneal ectoderm	
UBERON:0004345	trophectoderm	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004345	outermost layer of cells in the blastodermic vesicle, which will develop into the trophoblast layer and then contact the endometrium and take part in establishing the embryo's means of nutrition	
UBERON:0004346	gubernaculum (male or female)	biolink:AnatomicalEntity	mondo			gubernaculum|caudal suspensory ligament|gubernaculae|Gabernaculum	http://purl.obolibrary.org/obo/UBERON_0004346	embryonic structures which begin as undifferentiated mesenchyme attaching to the caudal end of the gonads. The gubernaculum is present only during the development of the urinary and reproductive organs, being replaced by distinct vestiges in males and females[WP]. Enitoinguinal ligaments that, in the male, connect the fetal testis to the developing scrotum, and, in the female, connect the ovaries to the uterus[MP]	
HGNC:2519	CTPS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2519		
HGNC:2518	CTNS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2518		
HGNC:2515	CTNND1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2515		
HGNC:2514	CTNNB1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2514		
CHEBI:33327	silicon oxide	biolink:ChemicalSubstance	mondo			oxides of silicon|silicon oxides	http://purl.obolibrary.org/obo/CHEBI_33327		
HP:0004408	Abnormality of the sense of smell	biolink:PhenotypicFeature	mondo	UMLS:C4021655	hposlim_core	Abnormality of the sense of smell|Abnormality of olfaction|Abnormal sense of smell|Smell defect	http://purl.obolibrary.org/obo/HP_0004408	An anomaly in the ability to perceive and distinguish scents (odors).	
UBERON:0004331	proximal phalanx of manual digit 5	biolink:AnatomicalEntity	mondo			proximal phalanx of fifth finger|proximal phalanx of 5th finger|manual digit 5 proximal phalanx|proximal phalanx of little finger|manual phalanx V-1|proximal phalanx of manual digit V|5th digit of hand proximal phalanx|fifth proximal phalanx of hand|proximal phalanx of 5th digit of hand|5th finger proximal phalanx|hand digit 5 proximal phalanx|proximal phalanx of fifth digit of hand|fifth finger proximal phalanx	http://purl.obolibrary.org/obo/UBERON_0004331	A proximal phalanx that is part of a hand digit 5 [Automatically generated definition].	
NCBITaxon:272561	Chlamydia trachomatis D/UW-3/CX	organism taxon	mondo	GC_ID:11		Chlamydia trachomatis strain D/UW-3/CX|Chlamydia trachomatis str. D/UW-3/CX	http://purl.obolibrary.org/obo/NCBITaxon_272561		
UBERON:0004338	proximal phalanx of manual digit 1	biolink:AnatomicalEntity	mondo			manual digit 1 proximal phalanx|manual phalanx I-1|proximal phalanx of thumb|proximal phalanx of first digit of hand|first proximal phalanx of hand|proximal phalanx of manual digit I|thumb proximal	http://purl.obolibrary.org/obo/UBERON_0004338	A proximal phalanx that is part of a hand digit 1 [Automatically generated definition].	
HGNC:2523	CTRC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2523		
UBERON:0004336	proximal phalanx of pedal digit 5	biolink:AnatomicalEntity	mondo			proximal phalanx of fifth digit of foot|5th toe proximal phalanx|pedal phalanx V-1|proximal phalanx of little toe|proximal phalanx of foot digit 5|proximal phalanx of the 5th toe|proximal phalanx of 5th toe|proximal phalanx of fifth toe|predal digit 5 proximal phalanx|fifth proximal phalanx of foot|foot digit 5 proximal phalanx|proximal phalanx of pedal digit V	http://purl.obolibrary.org/obo/UBERON_0004336	A proximal phalanx that is part of a pedal digit 5 [Automatically generated definition].	
UBERON:0004337	distal phalanx of manual digit 1	biolink:AnatomicalEntity	mondo			first distal phalanx of hand|distal phalanx of manual digit I|PDP|manual digit 1 distal phalanx|pollical distal phalanx|distal phalanx of thumb|distal phalanx of first digit of hand|thumb distal phalanx	http://purl.obolibrary.org/obo/UBERON_0004337	A distal phalanx that is part of a hand digit 1 [Automatically generated definition].	
UBERON:0004332	proximal phalanx of pedal digit 1	biolink:AnatomicalEntity	mondo			pedal phalanx I-1|proximal phalanx of big toe|proximal phalanx of great toe|predal digit 1 proximal phalanx|proximal phalanx of foot digit 1|proximal phalanx of hallux|foot digit 1 proximal phalanx|hallux proximal phalanx|proximal phalanx of pedal digit I|proximal phalanx of the 1st toe	http://purl.obolibrary.org/obo/UBERON_0004332	A proximal phalanx that is part of a pedal digit 1 [Automatically generated definition].	
HGNC:2529	CTSD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2529		
HGNC:2528	CTSC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2528		
CHEBI:23976	ethanediol	biolink:ChemicalSubstance	mondo			ethanediols	http://purl.obolibrary.org/obo/CHEBI_23976	Any diol that is ethane or substituted ethane carrying two hydroxy groups.	
UBERON:0004319	distal phalanx of pedal digit 5	biolink:AnatomicalEntity	mondo			5th toe distal phalanx|distal phalanx of foot digit 5|distal phalanx of little toe|distal phalanx of the 5th toe|distal phalanx of 5th toe|distal phalanx of fifth toe|distal phalanx of pedal digit V|distal phalanx of fifth digit of foot|fifth distal phalanx of foot|foot digit 5 distal phalanx	http://purl.obolibrary.org/obo/UBERON_0004319	A distal phalanx that is part of a foot digit 5 [Automatically generated definition].	
NCBITaxon:103829	Thelazioidea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_103829		
NCBITaxon:103828	Thelaziidae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_103828		
NCBITaxon:103826	Thelazia	organism taxon	mondo	GC_ID:1		eyeworms	http://purl.obolibrary.org/obo/NCBITaxon_103826		
PATO-PROPERTY:increased_in_magnitude_relative_to	increased_in_magnitude_relative_to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/pato#increased_in_magnitude_relative_to	q1 increased_in_magnitude_relative_to q2 if and only if magnitude(q1) > magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale.	
UBERON:0004327	middle phalanx of pedal digit 5	biolink:AnatomicalEntity	mondo			foot digit 5 intermediate phalanx|5th toe intermediate phalanx|middle phalanx of the 5th toe|middle phalanx of 5th toe|foot digit 5 middle phalanx|5th toe middle phalanx|intermediate phalanx of foot digit 5|intermediate phalanx of 5th toe|middle phalanx of pedal digit V|middle phalanx of foot digit 5|middle phalanx of little toe	http://purl.obolibrary.org/obo/UBERON_0004327	A middle phalanx that is part of a pedal digit 5 [Automatically generated definition].	
UBERON:0004323	middle phalanx of manual digit 5	biolink:AnatomicalEntity	mondo			5th finger intermediate phalanx|hand digit 5 intermediate phalanx|fifth finger intermediate phalanx|middle phalanx of manual digit V|5th digit of hand middle phalanx|fifth middle phalanx of hand|middle phalanx of little finger|5th finger middle phalanx|intermediate phalanx of fifth finger|hand digit 5 middle phalanx|fifth finger middle phalanx|intermediate phalanx of hand digit 5|intermediate phalanx of 5th finger|middle phalanx of 5th digit of hand|middle phalanx of fifth finger|middle phalanx of 5th finger|middle phalanx of fifth digit of hand|intermediate phalanx of 5th digit of hand|5th digit of hand intermediate phalanx	http://purl.obolibrary.org/obo/UBERON_0004323	A middle phalanx that is part of a hand digit 5 [Automatically generated definition].	
HGNC:2531	CTSF	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2531		
UBERON:0006984	anatomical surface	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006984	A two dimensional anatomical structure that is the boundary between an anatomical structure and an anatomical substance, an anatomical space or the organism's environment. Examples include the surface of your skin, the surface of the lining of your gut; the surface of the endothelium of you aorta that is in contact with blood.n	
RO:0002180	has component	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002180	w 'has component' p if w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type.	
HGNC:2536	CTSK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2536		
CHEBI:33306	carbon group element atom	biolink:ChemicalSubstance	mondo			cristallogenes|cristallogene|carbon group elements|carbonoides|group IV elements|carbon group element|group 14 elements	http://purl.obolibrary.org/obo/CHEBI_33306		
CHEBI:33308	carboxylic ester	biolink:ChemicalSubstance	mondo			carboxylic esters|Carboxylic ester|carboxylic acid esters|a carboxylic ester	http://purl.obolibrary.org/obo/CHEBI_33308	An ester of a carboxylic acid, R(1)C(=O)OR(2), where R(1) = H or organyl and R(2) = organyl.	
CHEBI:33309	noble gas atom	biolink:ChemicalSubstance	mondo			noble gases|noble gas|gas noble|group VIII elements|Edelgas|gases nobles|Edelgase|group 18 elements|gaz noble|inert gases|gaz nobles|rare gases|noble gas	http://purl.obolibrary.org/obo/CHEBI_33309		
CHEBI:33300	pnictogen	biolink:ChemicalSubstance	mondo			group 15 elements|group V elements|nitrogenoides|pnictogens|pnictogenes|nitrogenoideos|pnictogene	http://purl.obolibrary.org/obo/CHEBI_33300	Any p-block element atom that is in group 15 of the periodic table: nitrogen, phosphorus, arsenic, antimony and bismuth.	
CHEBI:33302	pnictogen molecular entity	biolink:ChemicalSubstance	mondo			pnictogen molecular entity|pnictogen molecular entities	http://purl.obolibrary.org/obo/CHEBI_33302	A p-block molecular entity containing any pnictogen.	
CHEBI:33303	chalcogen	biolink:ChemicalSubstance	mondo			group VI elements|chalcogenes|chalcogene|group 16 elements|anfigeno|Chalkogen|calcogenos|chalcogen|Chalkogene|calcogeno|chalcogens|anfigenos	http://purl.obolibrary.org/obo/CHEBI_33303	Any p-block element belonging to the group 16 family of the periodic table.	
FOODON:00003402	pre-harvest food material	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00003402	Organic food material which has not reached harvestable maturity.	
CHEBI:33304	chalcogen molecular entity	biolink:ChemicalSubstance	mondo			chalcogen molecular entity|chalcogen molecular entities|chalcogen compounds	http://purl.obolibrary.org/obo/CHEBI_33304	Any p-block molecular entity containing a chalcogen.	
UBERON:0004314	distal phalanx of manual digit 5	biolink:AnatomicalEntity	mondo			distal phalanx of fifth finger|distal phalanx of 5th finger|distal phalanx of little finger|distal phalanx of 5th digit of hand|5th digit of hand distal phalanx|distal phalanx of manual digit V|distal phalanx of fifth digit of hand|fifth distal phalanx of hand|5th finger distal phalanx|hand digit 5 distal phalanx|fifth finger distal phalanx	http://purl.obolibrary.org/obo/UBERON_0004314	A distal phalanx that is part of a hand digit 5 [Automatically generated definition].	
UBERON:0004315	distal phalanx of pedal digit 1	biolink:AnatomicalEntity	mondo			distal phalanx of first digit of foot|first distal phalanx of foot|distal phalanx of foot digit 1|distal phalanx of pedal digit I|distal phalanx of hallux|foot digit 1 distal phalanx|hallux distal phalanx|distal phalanx of big toe|distal phalanx of great toe	http://purl.obolibrary.org/obo/UBERON_0004315	A distal phalanx that is part of a foot digit 1 [Automatically generated definition].	
GO:0030258	lipid modification	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0030258	The covalent alteration of one or more fatty acids in a lipid, resulting in a change in the properties of the lipid.	
RO:0002297	results in formation of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002297		
RO:0002295	results in developmental progression of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002295	p results in the developmental progression of s iff p is a developmental process and s is an anatomical structure and p causes s to undergo a change in state at some point along its natural developmental cycle (this cycle starts with its formation, through the mature structure, and ends with its loss).	
HGNC:29086	CEP135	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29086		
PATO:0000001	quality	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0000001	A dependent entity that inheres in a bearer by virtue of how the bearer is related to other entities	
HGNC:30089	PWAR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30089		
GO:0030252	growth hormone secretion	biolink:OntologyClass	mondo			somatotropin secretion	http://purl.obolibrary.org/obo/GO_0030252	The regulated release of growth hormone from secretory granules into the blood.	
MONDO:0020393	discrete fibromuscular subaortic stenosis	biolink:Disease	mondo	ICD10:Q24.4|Orphanet:99052	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0020393		ORPHA:99052
MONDO:0020392	discrete fixed membranous subaortic stenosis	biolink:Disease	mondo	Orphanet:99051|ICD10:Q24.4	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0020392		ORPHA:99051
MONDO:0020391	pulmonary artery coming from the aorta	biolink:Disease	mondo	Orphanet:99050|ICD10:Q25.7|GARD:0004586	gard_rare|ordo_morphological_anomaly	hemitruncus arteriosus|abnormal origin of right or left pulmonary artery from the aorta	http://purl.obolibrary.org/obo/MONDO_0020391	Pulmonary artery coming from the aorta (PACA) is a cardiac malformation characterized by anomalous origin of one branch of the pulmonary arteries from the ascending aorta and a normal origin of the other pulmonary artery from the right ventricular outflow tract, and presenting with respiratory distress, congestive heart failure and failure to thrive within the first days/months of life.	ORPHA:99050
MONDO:0020390	pulmonary artery coming from patent ductus arteriosus	biolink:Disease	mondo	Orphanet:99049|ICD10:Q25.7	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0020390		ORPHA:99049
RO:0002286	developmentally succeeded by	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002286	Inverse of developmentally preceded by	
RO:0002287	part of developmental precursor of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002287		
MONDO:0020399	congenital hypoplasia of the mitral valve annulus	biolink:Disease	mondo	ICD10:Q23.2|SCTID:449270002|UMLS:C3165203|ICD9:746.89|Orphanet:99058	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0020399	Hypoplasia of the mitral valve annulus is a rare, congenital, mitral valve malformation characterized by hypoplastic annulus which usually appears within a complete mitral valve hypoplasia, causing mitral valve stenosis. Association with other cardiac malformation is common, including coarctation of the aorta, aortic valve stenosis, Shone complex and hypoplastic left heart syndrome.	SNOMEDCT:449270002|ORPHA:99058|UMLS:C3165203
MONDO:0020398	congenital mitral stenosis (disease)	biolink:Disease	mondo	Orphanet:99057|HP:0011570|ICD9:746.5|ICD10:Q23.2|GARD:0001496|SCTID:82458004	gard_rare|ordo_morphological_anomaly	congenital mitral valve stenosis|congenital mitral stenosis|hereditary mitral valve stenosis	http://purl.obolibrary.org/obo/MONDO_0020398	Congenital mitral stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle. The structure of the mitral valve is affected at the level of the supravalvular ring, annulus, leaflets or subvalvar copmponents and include supra-valvular ring, leaflet fusion (intra-leaflet ring), mitral parachute deformity and papillary muscle abnormalities. It may be isolated or associated with other heart malformations. The clinical presentation depends on the degree of obstruction, the presence of regurgitation, the presence and severity of associated pulmonary hypertension, and the presence of associated heart malformations. It may present with symptoms and signs of low cardiac output and right ventricular failure such as pulmonary infections, failure to thrive, exertional dyspnoea, cough, cyanosis and congestive heart failure.	SNOMEDCT:82458004|ORPHA:99057
MONDO:0020397	parachute tricuspid valve	biolink:Disease	mondo	Orphanet:99056|ICD10:Q22.8	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0020397	Parachute tricuspid valve is a rare congenital heart malformation defined as an insertion of the chordal apparatus into a single papillary muscle or a muscle group, making a pathognomonic 'pear' shape sign in the four-chamber echocardiographic view with the atrium forming the larger base of the pear and the leaflets the apex. Isolated parachute tricuspid valve may be asymptomatic or present with symptoms of tricuspid stenosis (diastolic inspiratory murmur, pulsation of jugular veins, hepatomegaly, edema, epigastric discomfort, right atrial enlargement, right ventricular hypertrophy, electrocardiography abnormalities). It may also be associated with other heart malformations and present with symptoms of the complex of malformations.	ORPHA:99056
MONDO:0020396	anomaly of the tricuspid valve chordae	biolink:Disease	mondo	Orphanet:99055|ICD10:Q22.8	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0020396	Anomaly of the tricuspid valve chordae is a rare, congenital anomaly of the tricuspid subvalvular apparatus characterized by aberrant tendinous chords, which insert at the clear zone of the leaflet instead of its free edge and connect to the endocardium instead of the papillary muscles. Resulting tethering of one or more tricuspid leaflets leads to their impaired mobility and tricuspid regurgitation. Association with other congenital cardiac anomalies has been reported.	ORPHA:99055
MONDO:0020395	valvar pulmonary stenosis	biolink:Disease	mondo	Orphanet:99054|ICD10:Q22.1|ICD9:746.02|MedDRA:10037450	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0020395	A congenital cardiovascular malformation of the pulmonary valve in which there is narrowing or stricture (obstruction to flow).	MEDDRA:10037450|ORPHA:99054|MESH:D011666|UMLS:C0034089
RO:0002285	developmentally replaces	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002285	x developmentally replaces y if and only if there is some developmental process that causes x to move or to cease to exist, and for the site that was occupied by x to become occupied by y, where y either comes into existence in this site or moves to this site from somewhere else	
MONDO:0020394	tunnel subaortic stenosis	biolink:Disease	mondo	Orphanet:99053|ICD10:Q24.4	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0020394		ORPHA:99053
HGNC:30074	POLR3A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30074		
HGNC:29099	TELO2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29099		
HGNC:29092	OBSL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29092		
HGNC:29090	SMCHD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29090		
OBO:cl#lacks_part	lacks_part	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/cl#lacks_part		
HGNC:30078	REEP6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30078		
MONDO:0020382	multifocal pattern dystrophy simulating fundus flavimaculatus	biolink:Disease	mondo	ICD10:H35.5|SCTID:723408004|Orphanet:99003|UMLS:CN207256	ordo_disease	multifocal pattern dystrophy simulating Stargardt disease	http://purl.obolibrary.org/obo/MONDO_0020382	Multifocal pattern dystrophy simulating fundus flavimaculatus is a patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age.	ORPHA:99003|UMLS:CN207256|SNOMEDCT:723408004
MONDO:0019393	idiopathic malabsorption due to bile acid synthesis defects	biolink:Disease	mondo	ICD10:K90.8|Orphanet:84065	ordo_disease	idiopathic bile acid malabsorption	http://purl.obolibrary.org/obo/MONDO_0019393	Idiopathic malabsorption due to increased acid bile synthesis is an intestinal disease of unknown etiology characterized by an overproduction of bile acids which leads to chronic watery diarrhea.	ORPHA:84065
MONDO:0020381	patterned macular dystrophy	biolink:Disease	mondo	ICD10:H35.5|UMLS:CN207254|UMLS:C4511237|DOID:0060863|Orphanet:99001|SCTID:725590001|OMIMPS:169150	ordo_disease	butterfly-shaped pigmentary macular dystrophy|butterfly-shaped pigment dystrophy|butterfly-shaped pattern dystrophy|patterned dystrophy of retinal pigment epithelium|macular dystrophy, patterned	http://purl.obolibrary.org/obo/MONDO_0020381	Butterfly-shaped pigment dystrophy is a patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age.	ORPHA:99001|UMLS:CN207254|SNOMEDCT:725590001|UMLS:C4511237|DOID:0060863
MONDO:0019392	syringocystadenoma papilliferum	biolink:Disease	mondo	Orphanet:840|NCIT:C4172|ICDO:8406/0|EFO:1000558|GARD:0005100|SCTID:239121009|UMLS:C0406803|MedDRA:10042926|DOID:5445|ICD10:D23.9	ordo_disease	Syringadenoma papilliferum|SCAP|papillary syringocystadenoma|papillary Syringadenoma (syringocystadenoma papilliferum)|fistulous vegetative verrucous hydradenoma|Syringadenoma|naevus syringocystadenomatosus papilliferus|papillary syringadenoma (morphologic abnormality)|syringocystadenoma papilliferum|papillary Syringadenoma	http://purl.obolibrary.org/obo/MONDO_0019392	A benign adnexal neoplasm occurring during childhood or adolescence. It usually presents as a papular lesion or a plaque on the head and neck. It may arise in an organoid nevus such as sebaceous. It is characterized by an endophytic invagination of the epithelium into the dermis. There are dermal cystic spaces present, containing villous projections. Complete excision is curative.	NCIT:C4172|MEDDRA:10042926|UMLS:C0406803|DOID:5445|ORPHA:840|SNOMEDCT:239121009
HGNC:17084	SYNE2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17084		
MONDO:0020380	autosomal dominant cerebellar ataxia	biolink:Disease	mondo	ICD10:G11.8|OMIMPS:164400|UMLS:CN227858|DOID:1441|GARD:0004346|Orphanet:99|ICD9:334.3|SCTID:129609000	gard_rare|ordo_group_of_disorders	cerebellar ataxia, autosomal dominant|SCA|Pierre Marie cerebellar ataxia (formerly)|spinocerebellar ataxia|ADCA|autosomal dominant spinocerebellar ataxia	http://purl.obolibrary.org/obo/MONDO_0020380	Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy.	SNOMEDCT:129609000|UMLS:CN227858|ORPHA:99|DOID:1441
MONDO:0019395	Hinman syndrome	biolink:Disease	mondo	ICD10:N32.8|UMLS:C1997362|SCTID:429233001|Orphanet:84085|ICD9:596.59|UMLS:CN206094	ordo_disease	Hinman-Allen syndrome|non-neurogenic neurogenic bladder|HS|HAS|occult neuropathic bladder	http://purl.obolibrary.org/obo/MONDO_0019395	Hinman syndrome (HS) or non-neurogenic neurogenic bladder is a voiding dysfunction of the bladder of neuropsychological origin that is characterized by functional bladder outlet obstruction in the absence of neurologic deficits.	UMLS:CN206094|UMLS:C1997362|SNOMEDCT:429233001|ORPHA:84085
MONDO:0019394	Senior-Boichis syndrome	biolink:Disease	mondo	SCTID:717187000|Orphanet:84081|UMLS:CN206093	ordo_disease	nephronophthisis-hepatic fibrosis syndrome|Boichis disease	http://purl.obolibrary.org/obo/MONDO_0019394	Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child.	UMLS:CN206093|SNOMEDCT:717187000|ORPHA:84081
MONDO:0019391	Fanconi anemia	biolink:Disease	mondo	DOID:13636|OMIMPS:227650|Orphanet:84|MedDRA:10055206|ICD10:D61.09|UMLS:C0015625|SCTID:30575002|ICD10:D61.0|MESH:D005199|NCIT:C62505|GARD:0006425|ICD9:284.09	clingen|ordo_malformation_syndrome	primary erythroid hypoplasia|pancytopenia, congenital|Fanconi pancytopenia|Fanconi's anemia|Fanconi panmyelopathy|Panmyelopathy, Fanconi	http://purl.obolibrary.org/obo/MONDO_0019391	Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.	DOID:13636|SNOMEDCT:30575002|MESH:D005199|MEDDRA:10055206|ORPHA:84|UMLS:C0015625|NCIT:C62505
MONDO:0019390	Susac syndrome	biolink:Disease	mondo	SCTID:702575003|MedDRA:10071573|EFO:1001856|Orphanet:838|ICD9:348.39|ICD10:I67.7|GARD:0007713|UMLS:C2717757|MESH:D055955|NCIT:C116363	gard_rare|ordo_disease	RED-M|retinopathy-encephalopathy-deafness associated with microangiopathy|SICRET syndrome|Retinocochleocerebral vasculopathy|SICRET (small infarction of cochlear, retinal, and encephalic tissue) syndrome|small infarctions of cochlear, retinal and encephalic tissue	http://purl.obolibrary.org/obo/MONDO_0019390	Susac syndrome (SS) is a rare disorder characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL). It is presumably due to autoimmune-mediated occlusions of microvessels in the CNS, the retina, and the inner ear.	SNOMEDCT:702575003|UMLS:C2717757|MEDDRA:10071573|NCIT:C116363|MESH:D055955|ORPHA:838
HGNC:17082	MLC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17082		
MONDO:0020389	pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome	biolink:Disease	mondo	Orphanet:99048|ICD10:Q22.2|UMLS:CN207270	ordo_malformation_syndrome	APV/PDA, non-Fallot type|absence of pulmonary valve-ventricular septal defect-persistent ductus arteriosus syndrome|pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome|PVA/PDA, non-Fallot type	http://purl.obolibrary.org/obo/MONDO_0020389		ORPHA:99048|UMLS:CN207270
PATO:0000025	composition	biolink:OntologyClass	mondo			content|compositionality|composed of|structure, composition	http://purl.obolibrary.org/obo/PATO_0000025	A single physical entity inhering in an bearer by virtue of the bearer's quantities or relative ratios of subparts.	
MONDO:0020388	double outlet right ventricle with non-committed subpulmonary ventricular septal defect	biolink:Disease	mondo	ICD10:Q20.1|Orphanet:99046	ordo_clinical_subtype	DORV with non-committed subpulmonary VSD	http://purl.obolibrary.org/obo/MONDO_0020388		ORPHA:99046
MONDO:0020387	double outlet right ventricle with subpulmonary ventricular septal defect	biolink:Disease	mondo	UMLS:CN207267|Orphanet:99045|SCTID:448794008|ICD10:Q20.1	ordo_clinical_subtype	DORV with subpulmonary VSD|Double outlet right ventricle with transposition of the great arteries|DORV-TGA|Taussig-Bing syndrome	http://purl.obolibrary.org/obo/MONDO_0020387		SNOMEDCT:448794008|ORPHA:99045|UMLS:CN207267
MONDO:0020386	double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis	biolink:Disease	mondo	Orphanet:99043|SCTID:253298003|ICD10:Q21.3|ICD10:Q20.1	ordo_clinical_subtype	double outlet right ventricle, Fallot type|DORV, Fallot type|DORV with subaortic or doubly committed VSD with pulmonary stenosis	http://purl.obolibrary.org/obo/MONDO_0020386		ORPHA:99043|SNOMEDCT:253298003
MONDO:0020385	congenitally uncorrected transposition of the great arteries with coarctation	biolink:Disease	mondo	Orphanet:99042|ICD10:Q20.3	ordo_clinical_subtype	TGA with coarctation|congenitally uncorrected transposition of the great vessels with coarctation	http://purl.obolibrary.org/obo/MONDO_0020385		ORPHA:99042
HGNC:29068	KATNIP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29068		
MONDO:0020384	Niemann-Pick disease type E	biolink:Disease	mondo	Orphanet:99022|SCTID:73399005|ICD10:E75.2	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0020384	Niemann-Pick disease, type E is a poorly defined adult-onset and non-neuronopathic form of Niemann-Pick disease.	UMLS:C0268248|ORPHA:99022|SNOMEDCT:73399005
MONDO:0020383	fundus pulverulentus	biolink:Disease	mondo	ICD10:H35.5|UMLS:CN207257|Orphanet:99004	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0020383	Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported.	ORPHA:99004|UMLS:CN207257
MONDO:0400004	phrynoderma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0400004	Phrynoderma is a form of follicular hyperkeratosis seen in young children and adolescents due to nutritional deficiencies. It is clinically characterized by discrete, follicular, skin-colored papules with keratotic plugs distributed over elbows, knees, extensor extremities, and buttocks.	
MONDO:0400005	refeeding syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0400005	Potentially fatal shifts in fluids and electrolytes that may occur in malnourished patients receiving artificial refeeding (whether enterally or parenterally).	
MONDO:0400002	calcium-alkali syndrome	biolink:Disease	mondo			milk-alkali syndrome	http://purl.obolibrary.org/obo/MONDO_0400002	The ingestion of excessive calcium supplementation or calcium containing antacids, and alkali resulting in a triad of hypercalcemia, metabolic alkalosis, and renal insufficiency.	
MONDO:0400003	skeletal fluorosis	biolink:Disease	mondo			fluorosis of the skeleton	http://purl.obolibrary.org/obo/MONDO_0400003	A condition that results from excessive fluoride ingestion leading to fluoride accumulation in the bone progressively over many years. The early symptoms of skeletal fluorosis, include stiffness and pain in the joints. In severe cases, the bone structure may change and ligaments may calcify, with resulting impairment of muscles and pain.	
MONDO:0400000	small intestinal bacterial overgrowth	biolink:Disease	mondo			SIBO	http://purl.obolibrary.org/obo/MONDO_0400000	The presence of excessive bacteria in the small intestine that can result from result from failure of the gastric acid barrier, failure of small intestinal motility, anatomic alterations, or impairment of systemic and local immunity.	
MONDO:0019397	unknown leukodystrophy	biolink:Disease	mondo	Orphanet:84096|ICD10:E75.2	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019397		ORPHA:84096
GO:0032892	positive regulation of organic acid transport	biolink:OntologyClass	mondo			upregulation of organic acid transport|up regulation of organic acid transport|stimulation of organic acid transport|up-regulation of organic acid transport|activation of organic acid transport	http://purl.obolibrary.org/obo/GO_0032892	Any process that activates or increases the frequency, rate or extent of the directed movement of organic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
HGNC:17089	SYNE1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17089		
GO:0032891	negative regulation of organic acid transport	biolink:OntologyClass	mondo			down regulation of organic acid transport|inhibition of organic acid transport|down-regulation of organic acid transport|downregulation of organic acid transport	http://purl.obolibrary.org/obo/GO_0032891	Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of organic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
MONDO:0019396	collagen type III glomerulopathy	biolink:Disease	mondo	ICD10:N07.6|Orphanet:84087|ICD9:583.89|UMLS:C3872695|UMLS:CN206095|SCTID:708127008	ordo_disease	Collagenofibrotic glomerulopathy	http://purl.obolibrary.org/obo/MONDO_0019396	Collagen type III glomerulopathy is a rare glomerular disease characterized by abnormal accumulation of type III collagen within the mesangium and subendothelial space of the glomerulus. Clinically it usually manifests with proteinuria (often in the nephrotic range), microscopic hematuria, peripheral edema and/or hypertension. In some cases progression to end-stage renal failure is observed.	UMLS:CN206095|UMLS:C3872695|SNOMEDCT:708127008|ORPHA:84087
GO:0032890	regulation of organic acid transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0032890	Any process that modulates the frequency, rate or extent of the directed movement of organic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
MONDO:0019399	Isaac syndrome	biolink:Disease	mondo	UMLS:C0751919|GARD:0006793|SCTID:305719002|Orphanet:84142|UMLS:CN206101|ICD10:G71.1	ordo_disease	Isaac's-Merten's syndrome|Isaac-Mertens syndrome|Isaacs' syndrome|Quantal squander syndrome|acquired neuromyotonia|neuromyotonia|peripheral nerve hyperexcitability|continuous muscle fiber activity syndrome	http://purl.obolibrary.org/obo/MONDO_0019399	Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia.	ORPHA:84142|UMLS:CN206101|UMLS:C0751919|SNOMEDCT:305719002
MONDO:0019398	desmin-related myopathy with Mallory body-like inclusions	biolink:Disease	mondo	Orphanet:84132|ICD10:G71.8	ordo_disease	early-onset desmin-related myopathy	http://purl.obolibrary.org/obo/MONDO_0019398		ORPHA:84132
MONDO:0019382	obsolete Colorado tick fever	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019382		
MONDO:0020371	essential iris atrophy	biolink:Disease	mondo	Orphanet:98981|UMLS:C0271111|ICD9:364.51|ICD10:H21.2|UMLS:CN207238|SCTID:25913001	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0020371	Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease.	UMLS:C0271111|ORPHA:98981|UMLS:CN207238|SNOMEDCT:25913001
MONDO:0020370	Cogan-Reese syndrome	biolink:Disease	mondo	UMLS:C1168173|NCIT:C84644|DOID:0060217|ICD10:H21.2|Orphanet:98980|SCTID:404633004|MedDRA:10059200|GARD:0006125	gard_rare|ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0020370	Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease.	NCIT:C84644|MEDDRA:10059200|SNOMEDCT:404633004|ORPHA:98980|UMLS:C1168173|DOID:0060217
MONDO:0019381	obsolete eastern equine encephalitis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019381		
HGNC:17095	LARS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17095		
MONDO:0019384	encephalitis lethargica	biolink:Disease	mondo	ICD9:049.8|DOID:5225|GARD:0006332|ICD10:A85.8|MedDRA:10052369|UMLS:C0014040|SCTID:186499007|NCIT:C34576|NCIT:C26761|Orphanet:83600	historic_epidemic|ordo_disease	Von Economo’s disease|encephalitis lethargica|Von Economo encephalitis|epidemic encephalitis|von Economo disease|lethargic encephalitis|von Economo's disease	http://purl.obolibrary.org/obo/MONDO_0019384	A form of encephalitis, the etiology of which is uncertain, that is characterized by lethargy and headache.	NCIT:C34576|SNOMEDCT:186499007|ORPHA:83600|NCIT:C26761|UMLS:C0014040|DOID:5225|MEDDRA:10052369
HGNC:17098	DICER1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17098		
MONDO:0019383	acute disseminated encephalomyelitis	biolink:Disease	mondo	GARD:0008639|ICD9:136.9|Orphanet:83597|NCIT:C34578|DOID:639|COHD:374021|MESH:D004673|UMLS:C0014059|EFO:0007130|ICD10:G04.0|SCTID:83942000	gard_rare|ordo_disease	ADE|acute disseminated encephalitis|ADEM|acute disseminated encephalomyelitis	http://purl.obolibrary.org/obo/MONDO_0019383	Acute disseminated encephalomyelitis (ADEM) is a demyelinating disorder of the central nervous system.	NCIT:C34578|ORPHA:83597|MESH:D004673|UMLS:C0014059|SNOMEDCT:83942000|DOID:639
HGNC:17091	NCSTN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17091		
MONDO:0019380	western equine encephalitis	biolink:Disease	mondo	EFO:0007546|NCIT:C85227|ICD10:A83.1|GARD:0007888|SCTID:47523006|Orphanet:83593|MESH:D020241|UMLS:C0153064|MedDRA:10014614|ICD9:062.1|DOID:10843	ordo_disease|gard_rare	Western equine encephalitis virus caused infectious encephalitis|Western equine encephalitis virus infectious encephalitis|WEE|Western equine encephalomyelitis	http://purl.obolibrary.org/obo/MONDO_0019380	An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. The disease can leave neurological sequelae, mainly in infants and children, such as seizures, spasticity or behavioral disorders.	ORPHA:83593|NCIT:C85227|UMLS:C0153064|MEDDRA:10014614|MESH:D020241|DOID:10843|SNOMEDCT:47523006
GO:0030224	monocyte differentiation	biolink:OntologyClass	mondo			monocyte cell differentiation	http://purl.obolibrary.org/obo/GO_0030224	The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a monocyte.	
GO:0030225	macrophage differentiation	biolink:OntologyClass	mondo			macrophage cell differentiation	http://purl.obolibrary.org/obo/GO_0030225	The process in which a relatively unspecialized monocyte acquires the specialized features of a macrophage.	
GO:0032886	regulation of microtubule-based process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0032886	Any process that modulates the frequency, rate or extent of any cellular process that depends upon or alters the microtubule cytoskeleton.	
MONDO:0020379	early-onset zonular cataract	biolink:Disease	mondo	Orphanet:98995|ICD10:Q12.0|UMLS:CN207251|GARD:0001898	gard_rare|ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0020379		MESH:C535342|UMLS:CN207251|ORPHA:98995
RO:0002264	acts upstream of or within	biolink:OntologyClass	mondo			affects	http://purl.obolibrary.org/obo/RO_0002264	c acts upstream of or within p if c is enables f, and f is causally upstream of or within p. c is a material entity and p is an process.	
MONDO:0020378	early-onset posterior polar cataract	biolink:Disease	mondo	Orphanet:98993|ICD10:Q12.0	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0020378		ORPHA:98993
MONDO:0020377	early-onset partial cataract	biolink:Disease	mondo	ICD10:Q12.0|Orphanet:98992|UMLS:CN207248	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0020377		ORPHA:98992|UMLS:CN207248
MONDO:0020376	early-onset nuclear cataract	biolink:Disease	mondo	UMLS:CN207247|ICD10:Q12.0|Orphanet:98991|MedDRA:10057735|MedDRA:10007759|MESH:C563333	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0020376		MESH:C563333|MEDDRA:10057735|UMLS:C1112705|UMLS:C0392557|MEDDRA:10007759|UMLS:CN207247|ORPHA:98991
MONDO:0020375	coralliform cataract	biolink:Disease	mondo	UMLS:CN207246|Orphanet:98990|ICD10:Q12.0	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0020375		UMLS:CN207246|ORPHA:98990
MONDO:0020374	cerulean cataract	biolink:Disease	mondo	ICD10:Q12.0|SCTID:204138006|GARD:0009508|ICD9:743.39|MESH:C537955|Orphanet:98989	ordo_clinical_subtype	cataract, congenital, blue dot type 1|cataract, congenital, cerulean type 1|blue-dot cataract	http://purl.obolibrary.org/obo/MONDO_0020374	Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens.	SNOMEDCT:204138006|ORPHA:98989|MESH:C537955
HGNC:29079	KDM1A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29079		
MONDO:0020373	early-onset anterior polar cataract	biolink:Disease	mondo	ICD10:Q12.0|UMLS:C1855179|Orphanet:98988|GARD:0001140	ordo_clinical_subtype	cataract anterior polar|early-onset anterior subcapsular cataract	http://purl.obolibrary.org/obo/MONDO_0020373		MESH:C538282|UMLS:C1855179|ORPHA:98988
MONDO:0020372	early-onset sutural cataract	biolink:Disease	mondo	ICD10:Q12.0|Orphanet:98985	ordo_clinical_subtype	early-onset cataract with Y-shaped suture opacities	http://purl.obolibrary.org/obo/MONDO_0020372		ORPHA:98985
RO:0002263	acts upstream of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002263	c acts upstream of p if and only if c enables some f that is involved in p' and p' occurs chronologically before p, is not part of p, and affects the execution of p. c is a material entity and f, p, p' are processes.	
HGNC:29077	IFT140	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29077		
PATO:0000033	concentration of	biolink:OntologyClass	mondo			concentration	http://purl.obolibrary.org/obo/PATO_0000033	A quality inhering in a substance by virtue of the amount of the bearer's there is mixed with another substance.	
RO:0002257	developmentally induces	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002257	Inverse of developmentally induced by	
RO:0002258	developmentally preceded by	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002258	Candidate definition: x developmentally related to y if and only if there exists some developmental process (GO:0032502) p such that x and y both participates in p, and x is the output of p and y is the input of p	
MONDO:0020369	Chandler syndrome	biolink:Disease	mondo	ICD10:H18.51|DOID:11554|ICD10:H21.2|UMLS:C0544008|GARD:0006033|Orphanet:98979|ICD9:371.57|MedDRA:10057487	ordo_clinical_subtype	Chandler's syndrome|posterior membrane corneal dystrophy|dystrophy of corneal endothelium|endothelial corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0020369	Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome, is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy.	ORPHA:98979|MEDDRA:10057487|DOID:11554|UMLS:C0544008
MONDO:0019389	obsolete X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome	biolink:Disease	mondo	ICD10:Q87.0|Orphanet:83648|UMLS:CN227624			http://purl.obolibrary.org/obo/MONDO_0019389		ORPHA:83648|UMLS:CN227624
GO:0030221	basophil differentiation	biolink:OntologyClass	mondo			basophil cell differentiation	http://purl.obolibrary.org/obo/GO_0030221	The process in which a relatively unspecialized myeloid precursor cell acquires specialized features of a basophil cell.	
MONDO:0019386	progressive rubella panencephalitis	biolink:Disease	mondo	SCTID:10082001|ICD10:B06.0+|Orphanet:83616|UMLS:C1305924|ICD10:G05.1*|https://en.wikipedia.org/wiki/Progressive_rubella_panencephalitis	ordo_disease	rubella panencephalitis	http://purl.obolibrary.org/obo/MONDO_0019386	A neurological disorder arising from primary rubella infection of the brain, characterized by chronic encephalitis. It is believed to be due to a persistence or reactivation of rubella virus infection. It usually manifesting between 8–19 years of age.	ORPHA:83616|SNOMEDCT:10082001|UMLS:C1305924
GO:0032881	regulation of polysaccharide metabolic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0032881	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving polysaccharides.	
MONDO:0019385	steroid-responsive encephalopathy associated with autoimmune thyroiditis	biolink:Disease	mondo	MESH:C535841|UMLS:C0393639|GARD:0008570|Orphanet:83601|ICD10:G04.8	ordo_disease	Hashimoto encephalitis|SREAT|steroid-responsive encephalopathy associated with thyroid disease|Hashimoto's encephalopathy|Hashimoto's encephalitis	http://purl.obolibrary.org/obo/MONDO_0019385		ORPHA:83601|MESH:C535841|UMLS:C0393639
GO:0032880	regulation of protein localization	biolink:OntologyClass	mondo			regulation of protein localisation	http://purl.obolibrary.org/obo/GO_0032880	Any process that modulates the frequency, rate or extent of any process in which a protein is transported to, or maintained in, a specific location.	
MONDO:0019388	pelvis syndrome	biolink:Disease	mondo	UMLS:C4510867|Orphanet:83628|SCTID:725138002|ICD10:Q87.8|UMLS:CN206083	ordo_malformation_syndrome	lumbar syndrome|Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome|perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus syndrome|urorectal septum malformation sequence	http://purl.obolibrary.org/obo/MONDO_0019388	PELVIS is an acronym defining the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.	SNOMEDCT:725138002|UMLS:CN206083|ORPHA:83628|UMLS:C4510867
MONDO:0019387	macrostomia-preauricular tags-external ophthalmoplegia syndrome	biolink:Disease	mondo	UMLS:CN206081|Orphanet:83619|ICD10:Q87.0	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0019387	Macrostomia-preauricular tags-external ophthalmoplegia syndrome combines macrostomia or abnormal mouth contour, preauricular tags, uni- or bilateral ptosis and external ophthalmoplegia. It was described in nine members of a Brazilian family. It is a new phenotype belonging to the so-called oculoauriculovertebral spectrum, resulting from a branchial arch anomaly. Transmission is autosomal dominant.	UMLS:CN206081|ORPHA:83619
HGNC:17063	RAB3GAP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17063		
GO:0030219	megakaryocyte differentiation	biolink:OntologyClass	mondo			megakaryocyte cell differentiation	http://purl.obolibrary.org/obo/GO_0030219	The process in which a myeloid precursor cell acquires specializes features of a megakaryocyte.	
GO:0030217	T cell differentiation	biolink:OntologyClass	mondo			T cell development|T-cell differentiation|T lymphocyte differentiation|T-lymphocyte differentiation	http://purl.obolibrary.org/obo/GO_0030217	The process in which a precursor cell type acquires characteristics of a more mature T-cell. A T cell is a type of lymphocyte whose definin characteristic is the expression of a T cell receptor complex.	
GO:0030218	erythrocyte differentiation	biolink:OntologyClass	mondo			erythropoiesis|erythrocyte cell differentiation|red blood cell differentiation|RBC differentiation	http://purl.obolibrary.org/obo/GO_0030218	The process in which a myeloid precursor cell acquires specializes features of an erythrocyte.	
GO:0032879	regulation of localization	biolink:OntologyClass	mondo			regulation of localisation	http://purl.obolibrary.org/obo/GO_0032879	Any process that modulates the frequency, rate or extent of any process in which a cell, a substance, or a cellular entity is transported to, or maintained in, a specific location.	
GO:0030216	keratinocyte differentiation	biolink:OntologyClass	mondo			keratinocyte cell differentiation	http://purl.obolibrary.org/obo/GO_0030216	The process in which a relatively unspecialized cell acquires specialized features of a keratinocyte.	
MONDO:0044335	benign soft tissue neoplasm	biolink:Disease	mondo	UMLS:C0334450|ICDO:8800/0|SCTID:92069005|NCIT:C4242		benign neoplasm of the soft tissue|benign neoplasm of soft tissue|benign tumor of the soft tissue|benign soft tissue tumor|benign tumor of soft tissue|soft tissue neoplasm, benign|benign soft tissue neoplasm	http://purl.obolibrary.org/obo/MONDO_0044335	A non-metastasizing neoplasm that arises from the soft tissue.	SNOMEDCT:92069005|NCIT:C4242|UMLS:C0334450
MONDO:0044334	connective and soft tissue neoplasm	biolink:Disease	mondo	NCIT:C3810		connective and soft tissue neoplasm|soft tissue and bone neoplasm|tumor of soft tissue and skeleton|tumor of skeletal and soft tissue|neoplasm of soft tissue and bone|soft tissue and bone tumor|connective and soft tissue tumor|skeletal and soft tissue neoplasm|musculoskeletal and soft tissue neoplasm|neoplasm of skeletal and soft tissue|neoplasm of soft tissue and skeleton|skeletal and soft tissue tumor|tumor of soft tissue and bone|musculoskeletal and soft tissue tumor	http://purl.obolibrary.org/obo/MONDO_0044334	A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue.	NCIT:C3810
RO:0002254	has developmental contribution from	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002254	x has developmental contribution from y iff x has some part z such that z develops from y	
MONDO:0044337	stromal sarcoma	biolink:Disease	mondo	ICDO:8935/3|UMLS:C1370723|NCIT:C6926		stromal sarcoma, malignant|stromal tumor, malignant|stromal sarcoma	http://purl.obolibrary.org/obo/MONDO_0044337	A malignant neoplasm characterized by the presence of atypical mesenchymal-stromal cells. Representative examples include endometrial stromal sarcoma and prostate stromal sarcoma.	UMLS:C1370723|NCIT:C6926
RO:0002255	developmentally_contributes_to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002255	inverse of has developmental contribution from	
MONDO:0044336	colorectal signet ring cell carcinoma	biolink:Disease	mondo	UMLS:C1707440|NCIT:C43586		colorectal signet Ring cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0044336	An invasive colorectal adenocarcinoma characterized by the presence of malignant glandular epithelial cells with prominent intracytoplasmic mucin resulting in the displacement of the nuclei. The malignant glandular cells with intracytoplasmic mucin constitute more than 50% of the malignant cellular infiltrate.	NCIT:C43586|UMLS:C1707440
RO:0002256	developmentally induced by	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002256	t1 developmentally_induced_by t2 if there is a process of organ induction (GO:0001759) with t1 and t2 as interacting participants. t2 causes t1 to change its fate from a precursor tissue type T to T', where T' develops_from T.	
MONDO:0044331	genetic transient congenital hypothyroidism	biolink:Disease	mondo	ICD10:P72.2|Orphanet:226316	ordo_disease	hereditary transient congenital hypothyroidism	http://purl.obolibrary.org/obo/MONDO_0044331	An instance of transient congenital hypothyroidism that is caused by an inherited modification of the individual's genome.	ORPHA:226316
MONDO:0044330	hyperekplexia 4	biolink:Disease	mondo	DOID:0080581|UMLS:CN248518|OMIM:618011		HKPX4|hyperekplexia 4; HKPX4	http://purl.obolibrary.org/obo/MONDO_0044330	Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by {2:Piard et al., 2018}).nnFor a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM:149400).	UMLS:CN248518|DOID:0080581|http://identifiers.org/omim/618011
MONDO:0044333	alcohol-induced Wernicke-Korsakoff's syndrome	biolink:Disease	mondo	NCIT:C34366		alcohol-induced Wernicke-Korsakoff's syndrome|alcohol-induced amnestic syndrome|alcoholic Korsakoff's psychosis	http://purl.obolibrary.org/obo/MONDO_0044333	A syndrome which occurs in individuals with a history of alcohol abuse. It is caused by prolonged alcohol-induced neurological damage and malnutrition including vitamin and electrolyte deficiencies. Clinical signs include altered mental status, visual impairment and decreased muscle coordination. The clinical course varies and is, in part, dependent upon the severity of symptoms at presentation. The prognosis is poor and worsens if alcohol abuse continues.	NCIT:C34366
MONDO:0044332	childhood-onset benign chorea with striatal involvement	biolink:Disease	mondo	Orphanet:494541	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0044332		ORPHA:494541
HGNC:29043	DSTYK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29043		
MONDO:0044328	short-rib thoracic dysplasia 20 with polydactyly	biolink:Disease	mondo	OMIM:617925|UMLS:CN902090		SRTD20|short-rib thoracic dysplasia 20 with polydactyly; SRTD20	http://purl.obolibrary.org/obo/MONDO_0044328	Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {2:Schmidts et al., 2013}).nnThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, OMIM:218330).	UMLS:CN902090|http://identifiers.org/omim/617925
MONDO:0044327	polycystic liver disease 4 with or without kidney cysts	biolink:Disease	mondo	OMIM:617875|UMLS:CN818987		PCLD4|polycystic liver disease 4 with or without kidney cysts; PCLD4	http://purl.obolibrary.org/obo/MONDO_0044327	PCLD4 is an autosomal dominant disease characterized by adult-onset of liver cysts arising from the bile duct epithelium. Some patients may develop a few kidney cysts, but these are often incidental and do not result in renal failure.	http://identifiers.org/omim/617875|UMLS:CN818987
MONDO:0044329	osteogenesis imperfecta, type 18	biolink:Disease	mondo	UMLS:CN244563|OMIM:617952		OI18|osteogenesis imperfecta, type XVIII; OI18	http://purl.obolibrary.org/obo/MONDO_0044329	Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life ({1:Doyard et al., 2018}).	http://identifiers.org/omim/617952|UMLS:CN244563
HGNC:29040	SZT2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29040		
GO:0030212	hyaluronan metabolic process	biolink:OntologyClass	mondo			hyaluronan metabolism	http://purl.obolibrary.org/obo/GO_0030212	The chemical reactions and pathways involving hyaluronan, the naturally occurring anionic form of hyaluronic acid, any member of a group of glycosaminoglycans, the repeat units of which consist of beta-1,4 linked D-glucuronyl-beta-(1,3)-N-acetyl-D-glucosamine.	
GO:0030210	heparin biosynthetic process	biolink:OntologyClass	mondo			heparin anabolism|heparan sulfate biosynthetic process|heparin synthesis|heparin formation|heparin biosynthesis	http://purl.obolibrary.org/obo/GO_0030210	The chemical reactions and pathways resulting in the formation of heparin, any member of a group of glycosaminoglycans of average Mr (6000-20000), consisting predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues.	
GO:0032870	cellular response to hormone stimulus	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0032870	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus.	
HGNC:17068	PALLD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17068		
HGNC:17073	ARHGAP26	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17073		
GO:0032869	cellular response to insulin stimulus	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0032869	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms.	
GO:0032868	response to insulin	biolink:OntologyClass	mondo			response to insulin stimulus	http://purl.obolibrary.org/obo/GO_0032868	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms.	
HGNC:17075	TAB2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17075		
GO:0030202	heparin metabolic process	biolink:OntologyClass	mondo			heparin metabolism|heparan sulfate metabolic process	http://purl.obolibrary.org/obo/GO_0030202	The chemical reactions and pathways involving heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells. They are similar to heparan sulfates but are of somewhat higher average Mr (6000-20000) and contain fewer N-acetyl groups and more N-sulfate and O-sulfate groups; they may be attached in the same manner to protein, forming proteoglycans. They consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues.	
GO:0030203	glycosaminoglycan metabolic process	biolink:OntologyClass	mondo			glycosaminoglycan metabolism	http://purl.obolibrary.org/obo/GO_0030203	The chemical reactions and pathways involving glycosaminoglycans, any one of a group of polysaccharides that contain amino sugars. Formerly known as mucopolysaccharides, they include hyaluronic acid and chondroitin, which provide lubrication in joints and form part of the matrix of cartilage. The three-dimensional structure of these molecules enables them to trap water, which forms a gel and gives glycosaminoglycans their elastic properties.	
MONDO:0044346	echinococcus granulosus infectious disease	biolink:Disease	mondo	SCTID:75006000|UMLS:C0152068|ICD9:122.4|ICD9:122.3		Echinococcus granulosus caused disease or disorder|echinococcus granulosus infection|unilocular hydatid disease|Echinococcus granulosus disease or disorder|echinococcus granulosus infectious disease|Echinococcus granulosus infectious disease	http://purl.obolibrary.org/obo/MONDO_0044346	An disease or disorder caused by infection with Echinococcus granulosus.	UMLS:C0152068|SNOMEDCT:75006000
MONDO:0044345	Schistosoma mansoni infectious disease	biolink:Disease	mondo	SCTID:750009|MESH:D012555|NCIT:C35002		Schistosoma mansoni infection|Schistosoma mansoni disease or disorder|Schistosoma mansoni caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0044345	An infection that is caused by Schistosoma mansoni.	NCIT:C35002|SNOMEDCT:750009|MESH:D012555
MONDO:0044348	hemoglobinopathy	biolink:Disease	mondo	ICD9:282.7|SCTID:80141007		globin abnormality|hemoglobin disease|hemoglobinopathy|hemoglobin disorder	http://purl.obolibrary.org/obo/MONDO_0044348		SNOMEDCT:80141007
RO:0002244	related via exposure to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002244	Any relationship between an exposure event or process and any other entity.	
MONDO:0044347	erythrocyte disease	biolink:Disease	mondo	SCTID:38292009|UMLS:C0221016|ICD9:289.9		erythrocyte disease or disorder|red blood cell disorder|disease of erythrocyte|disorder of erythrocyte|disorder of erythrocyte|red blood cell disease|disease or disorder of erythrocyte|erythrocyte disease	http://purl.obolibrary.org/obo/MONDO_0044347	A disease or disorder that involves the erythrocyte.	UMLS:C0221016|SNOMEDCT:38292009
GO:0005262	calcium channel activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0005262	Enables the facilitated diffusion of a calcium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism.	
MONDO:0044342	thoracic disc degenerative disorder	biolink:Disease	mondo	SCTID:68675004|UMLS:C0263872|NCIT:C27155		thoracic region of vertebral column intervertebral disc degenerative disorder|thoracic Disc degenerative disorder|degeneration of thoracic intervertebral disc|thoracic Disc Degeneration|thoracic Disc degenerative disease|intervertebral disc degenerative disorder of thoracic region of vertebral column	http://purl.obolibrary.org/obo/MONDO_0044342	Any degenerative disorder affecting one or more vertebral discs of the thoracic spine.	UMLS:C0263872|SNOMEDCT:68675004|NCIT:C27155
MONDO:0044344	Schistosoma japonicum infectious disease	biolink:Disease	mondo	SCTID:268058007|MESH:D012554|NCIT:C35001		Katayama disease|Schistosoma japonicum infection|Asiatic schistosomiasis|Schistosoma japonicum disease or disorder|schistosomiasis japonicum|Katamaya fever|Katamaya syndrome|Schistosoma japonicum caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0044344	An infection that is caused by Schistosoma japonicum.	SNOMEDCT:268058007|NCIT:C35001|MESH:D012554
CHEBI:149552	emetic	biolink:ChemicalSubstance	mondo			emetics	http://purl.obolibrary.org/obo/CHEBI_149552	Any agent that induces nausea and vomiting.	
GO:0005261	cation channel activity	biolink:OntologyClass	mondo			non-selective cation channel activity|cation diffusion facilitator activity	http://purl.obolibrary.org/obo/GO_0005261	Enables the energy-independent passage of cations across a lipid bilayer down a concentration gradient.	
MONDO:0044343	cervical disc degenerative disorder	biolink:Disease	mondo	UMLS:C0158262|UMLS:C0410606|NCIT:C27156|SCTID:69195002		cervical Disc degenerative disease|intervertebral disc degenerative disorder of cervical region of vertebral column|cervical region of vertebral column intervertebral disc degenerative disorder|degeneration of cervical intervertebral disc|cervical Disc degenerative disorder|cervical Disc Degeneration	http://purl.obolibrary.org/obo/MONDO_0044343	Any degenerative disorder affecting one or more vertebral discs of the cervical spine.	SNOMEDCT:69195002|UMLS:C0158262|UMLS:C0410606|NCIT:C27156
HGNC:29059	IQSEC2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29059		
MONDO:0044339	lumbar disc degenerative disorder	biolink:Disease	mondo	MESH:C535531|EFO:0004994|NCIT:C27154|SCTID:26538006|OMIM:603932		lumbar disc degeneration, susceptibility to|lumbar Disc degenerative disease|IDD|lumbar Disc degenerative disorder|lumbar region of vertebral column intervertebral disc degenerative disorder|degenerative disc disease|lumbar disc disease|degenerative disc disorder|intervertebral DISC disease; IDD|lumbar Disc Degeneration|intervertebral disc degenerative disorder of lumbar region of vertebral column|lumbar disc herniation, susceptibility to|degeneration of lumbar intervertebral disc|intervertebral disc disease	http://purl.obolibrary.org/obo/MONDO_0044339	Any degenerative disorder affecting one or more vertebral discs of the lumbar spine.	MESH:C535531|NCIT:C27154|http://identifiers.org/omim/603932|SNOMEDCT:26538006
MONDO:0044338	autoimmune primary ovarian failure	biolink:Disease	mondo	ICD9:256.39|UMLS:C0342508|ICD9:279.49|SCTID:237790001		primary ovarian failure arising through autoimmunity	http://purl.obolibrary.org/obo/MONDO_0044338	An autoimmune form of primary ovarian failure.	UMLS:C0342508|SNOMEDCT:237790001
HGNC:32698	DUOXA2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/32698		
HGNC:30035	PIK3R5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30035		
HGNC:30032	PACS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30032		
MONDO:0044351	Schistosoma intercalatum infectious disease	biolink:Disease	mondo	UMLS:C0276932|SCTID:52179003|ICD9:120.8|NCIT:C35364		Schistosoma intercalatum disease or disorder|infection by Schistosoma intercalatum|Schistosoma intercalatum caused disease or disorder|infection caused by Schistosoma intercalatum	http://purl.obolibrary.org/obo/MONDO_0044351	An disease or disorder caused by infection with Schistosoma intercalatum.	NCIT:C35364|SNOMEDCT:52179003|UMLS:C0276932
HGNC:17043	NIPA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17043		
MONDO:0044350	hyperparathyroidism, primary, caused by water clear cell hyperplasia	biolink:Disease	mondo	MESH:C563982|OMIM:600166		hyperparathyroidism, primary, caused by water clear cell hyperplasia	http://purl.obolibrary.org/obo/MONDO_0044350		MESH:C563982|http://identifiers.org/omim/600166
HGNC:17042	PUF60	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17042		
RO:0002231	has start location	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002231	x 'has starts location' y if and only if there exists some process z such that x 'starts with' z and z 'occurs in' y	
RO:0002232	has end location	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002232	x 'has end location' y if and only if there exists some process z such that x 'ends with' z and z 'occurs in' y	
RO:0002233	has input	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002233	p has input c iff: p is a process, c is a material entity, c is a participant in p, c is present at the start of p, and the state of c is modified during p.	
GO:0005231	excitatory extracellular ligand-gated ion channel activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0005231	Enables the transmembrane transfer of an ion by a channel that opens when a specific extracellular ligand has been bound by the channel complex or one of its constituent parts, where channel opening contributes to an increase in membrane potential.	
RO:0002234	has output	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002234	p has output c iff c is a participant in p, c is present at the end of p, and c is not present at the beginning of p.	
GO:0005230	extracellular ligand-gated ion channel activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0005230	Enables the transmembrane transfer of an ion by a channel that opens when a specific extracellular ligand has been bound by the channel complex or one of its constituent parts.	
MONDO:0044355	isolated sternocostoclavicular hyperostosis	biolink:Disease	mondo	SCTID:766711009|UMLS:C0020499|ICD10:M85.8|Orphanet:178311	ordo_disease	isolated SCCH	http://purl.obolibrary.org/obo/MONDO_0044355	Isolated sternocostoclavicular hyperostosis is a rare rheumatologic disease characterized by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, edema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases.	UMLS:C0020499|SNOMEDCT:766711009|ORPHA:178311
HGNC:20692	TPH2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20692		
MONDO:0044354	Rosai-Dorfman disease	biolink:Disease	mondo	ICD10:D76.3|MedDRA:10063397|Orphanet:158014|ONCOTREE:RDD	ordo_disease	Rosaï-Dorfman disease|sinus histiocytosis with massive lymphadenopathy|RosaC/-Dorfman-Destombes disease|Destombes-Rosaï-Dorfman disease|Rosaï-Dorfman-Destombes disease|SHML|Destombes-RosaC/-Dorfman disease	http://purl.obolibrary.org/obo/MONDO_0044354	Rosai-Dorfman disease is a rare benign non-Langerhans cell histiocytosis characterized by the development of large painless histiocytic masses in the lymph nodes, predominantly of the cervical region. Extranodal involvement can also be observed, such as in the skin, respiratory tract, bones, genitourinary system, soft tissues, oral cavity, and central nervous system. Additional findings may include fever, malaise, epistaxis, night sweats, weight loss, leukocytosis, elevated erythrocyte sedimentation rate and hypergammaglobulinemia.	ORPHA:158014
RO:0002230	ends with	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002230	x ends with y if and only if x has part y and the time point at which x ends is equivalent to the time point at which y ends. Formally: α(y) > α(x) ∧ ω(y) = ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point.	
RO:0002229	ends	biolink:OntologyClass	mondo			finishes	http://purl.obolibrary.org/obo/RO_0002229	Relation between occurrents, shares an end boundary with.	
HGNC:29021	CEP290	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29021		
HGNC:29022	SPECC1L	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29022		
RO:0002224	starts with	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002224	x starts with y if and only if x has part y and the time point at which x starts is equivalent to the time point at which y starts. Formally: α(y) = α(x) ∧ ω(y) < ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point.	
MONDO:0044349	acquired hemoglobinopathy	biolink:Disease	mondo	UMLS:C1263995|SCTID:127039000		acquired hemoglobinopathy	http://purl.obolibrary.org/obo/MONDO_0044349	An instance of hemoglobinopathy that is acquired during the lifetime of the individual.	UMLS:C1263995|SNOMEDCT:127039000
RO:0002225	develops from part of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002225	x develops from part of y if and only if there exists some z such that x develops from z and z is part of y	
RO:0002226	develops in	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002226	x develops_in y if x is located in y whilst x is developing	
HGNC:32689	SLFN14	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/32689		
HGNC:32685	ARMS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/32685		
HGNC:30022	PPARGC1B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30022		
GO:0005244	voltage-gated ion channel activity	biolink:OntologyClass	mondo			voltage-dependent ion channel activity|voltage gated ion channel activity	http://purl.obolibrary.org/obo/GO_0005244	Enables the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded.	
RO:0002220	adjacent to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002220	x adjacent to y if and only if x and y share a boundary.	
RO:0002221	surrounds	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002221	inverse of surrounded_by	
RO:0002222	temporally related to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002222		
RO:0002223	starts	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002223	inverse of starts with	
NCBITaxon:260964	Henipavirus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_260964		
GO:0005243	gap junction channel activity	biolink:OntologyClass	mondo			innexin|connexin|intercellular channel|innexin channel activity	http://purl.obolibrary.org/obo/GO_0005243	A wide pore channel activity that enables a direct cytoplasmic connection from one cell to an adjacent cell. The gap junction can pass large solutes as well as electrical signals between cells. Gap junctions consist of two gap junction hemi-channels, or connexons, one contributed by each membrane through which the gap junction passes.	
NCBITaxon:260963	Avulavirus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_260963		
RO:0002217	actively participates in	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002217	x actively participates in y if and only if x participates in y and x realizes some active role	
RO:0002218	obsolete has active participant	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002218	x has participant y if and only if x realizes some active role that inheres in y	
RO:0002219	surrounded_by	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002219	x surrounded_by y if and only if (1) x is adjacent to y and for every region r that is adjacent to x, r overlaps y (2) the shared boundary between x and y occupies the majority of the outermost boundary of x	
GO:0019889	pteridine metabolic process	biolink:OntologyClass	mondo			pteridine metabolism	http://purl.obolibrary.org/obo/GO_0019889	The chemical reactions and pathways involving pteridine, pyrazino(2,3-dipyrimidine), the parent structure of pterins and the pteroyl group.	
RO:0002213	positively regulates	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002213	Process(P1) postively regulates process(P2) iff: P1 initiates P2, or P1 increases the the frequency of initiation of P2 or the magnitude or rate of output of P2.	
RO:0002215	capable_of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002215	A relation between a material entity (such as a cell) and a process, in which the material entity has the ability to carry out the process. 	
RO:0002216	capable of part of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002216	c stands in this relationship to p if and only if there exists some p' such that c is capable_of p', and p' is part_of p.	
GO:0019882	antigen processing and presentation	biolink:OntologyClass	mondo			antigen processing|antigen presentation	http://purl.obolibrary.org/obo/GO_0019882	The process in which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex.	
HGNC:17057	CARD8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17057		
HP:0100886	Abnormality of globe location	biolink:PhenotypicFeature	mondo	UMLS:C4021946		Abnormality of globe position|Abnormality of eyeball position|Abnormality of eyeball location	http://purl.obolibrary.org/obo/HP_0100886	An abnormality in the placement of the ocular globe (eyeball).	
HP:0100887	Abnormality of globe size	biolink:PhenotypicFeature	mondo	UMLS:C4021945		Abnormality of eyeball size|Eye size difference	http://purl.obolibrary.org/obo/HP_0100887	An abnormality in the size of the ocular globe (eyeball).	
HGNC:20672	PHF8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20672		
MONDO:0022981	die Smulders droog van dijk syndrome	biolink:Disease	mondo	GARD:0001857	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022981		
HGNC:17020	IRAK3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17020		
MONDO:0022982	die Smulders Vles Fryns syndrome	biolink:Disease	mondo	GARD:0001858	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022982		
MONDO:0022983	Dieterich disease	biolink:Disease	mondo	GARD:0000204|UMLS:C2931124|MESH:C536172	gard_rare	Dieterich disease|avascular necrosis of the metacarpal head|Dieterich's disease	http://purl.obolibrary.org/obo/MONDO_0022983		MESH:C536172|UMLS:C2931124
MONDO:0007348	obsolete colchicine resistance	biolink:Disease	mondo	UMLS:C1861502|OMIM:120080		colchicine sensitivity|colchicine resistance	http://purl.obolibrary.org/obo/MONDO_0007348		http://identifiers.org/omim/120080|UMLS:C1861502
MONDO:0022985	diffuse cavernous hemangioma of the rectum	biolink:Disease	mondo	GARD:0010750	gard_rare	cavernous haemangioma of the rectum	http://purl.obolibrary.org/obo/MONDO_0022985		
NCBITaxon:42408	Neotoma albigula	organism taxon	mondo	GC_ID:1		white-throated woodrat	http://purl.obolibrary.org/obo/NCBITaxon_42408		
MONDO:0022986	diffuse idiopathic pulmonary neuroendocrine cell hyperplasia	biolink:Disease	mondo	NCIT:C7437|UMLS:C1333291|GARD:0010780	gard_rare	diffuse idiopathic pulmonary neuroendocrine cell hyperplasia|DIPNECH|DIP-NECH	http://purl.obolibrary.org/obo/MONDO_0022986	A very rare condition characterized by generalized proliferation of pulmonary neuroendocrine cells. It manifests as progressive cough and dyspnea. It is considered a precursor for pulmonary carcinoid tumor.	NCIT:C7437|UMLS:C1333291
MONDO:0007349	familial cold autoinflammatory syndrome 1	biolink:Disease	mondo	DOID:0090062|ICD10:L50.2|OMIM:120100|SCTID:238687000		familial cold autoinflammatory syndrome caused by mutation in NLRP3|familial cold autoinflammatory syndrome type 1|familial cold autoinflammatory syndrome 1; FCAS1|cold urticaria, familial|Cryopyrin-associated periodic syndrome 1|cold hypersensitivity|Fcas|cold-induced autoinflammatory syndrome, familial|familial cold autoinflammatory syndrome 1|NLRP3 familial cold autoinflammatory syndrome|FCAS1	http://purl.obolibrary.org/obo/MONDO_0007349	Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRP3 gene.	http://identifiers.org/omim/120100|SNOMEDCT:238687000|DOID:0090062
NCBITaxon:42407	Neotoma	organism taxon	mondo	GC_ID:1		trade rats|pack rats|wood rats	http://purl.obolibrary.org/obo/NCBITaxon_42407		
MONDO:0007346	cochleosaccular degeneration-cataract syndrome	biolink:Disease	mondo	MESH:C536432|Orphanet:3233|OMIM:120040|SCTID:715528001|GARD:0009418|UMLS:C1861512	gard_rare|ordo_malformation_syndrome	Cochleosaccular Degeneration|Cochleosaccular degeneration of the inner ear and progressive cataracts|COCHLEOSACCULAR degeneration with progressive cataracts|Cochleosaccular Degeneration of the inner Ear with progressive cataracts	http://purl.obolibrary.org/obo/MONDO_0007346	Cochleosaccular degeneration-cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant.	http://identifiers.org/omim/120040|ORPHA:3233|SNOMEDCT:715528001|UMLS:C1861512|MESH:C536432
MONDO:0010998	ALG3-CDG	biolink:Disease	mondo	SCTID:720976009|DOID:0080556|UMLS:C1832736|NCIT:C126870|OMIM:601110|MESH:C535742|GARD:0009827|ICD10:E77.8|Orphanet:79321	ordo_disease	CDG1D|CDG 1D|CDGS4 (formerly)|carbohydrate-deficient glycoprotein syndrome type IV (formerly)|CDG Id|CDG syndrome type Id|Cdgs, type IV, formerly|congenital disorder of glycosylation type Id|Cdgs, type IV|CDGId|congenital disorder of glycosylation, type Id; CDG1D|mannosyltransferase 6 deficiency|congenital disorder of glycosylation, type Id|carbohydrate-deficient glycoprotein syndrome, type IV, formerly|congenital disorder of glycosylation type 1d|carbohydrate deficient glycoprotein syndrome type Id|carbohydrate-deficient glycoprotein syndrome, type IV|CDG-Id|ALG3-CDG (CDG-Id)	http://purl.obolibrary.org/obo/MONDO_0010998	(3q27.3).	UMLS:C1832736|DOID:0080556|SNOMEDCT:720976009|ORPHA:79321|MESH:C535742|NCIT:C126870|http://identifiers.org/omim/601110
MONDO:0020324	intravascular large B-cell lymphoma	biolink:Disease	mondo	ICDO:9712/3|MedDRA:10069643|SCTID:255102004|NCIT:C4342|ICD10:C83.3|UMLS:CN207146|ICD9:202.80|ONCOTREE:IVBCL|Orphanet:98839	ordo_disease	Tappeiner-Pfleger disease|angiotropic large cell lymphoma|angioendotheliomatosis proliferans systemisata|malignant angioendotheliomatosis|IVBCL|intravascular lymphomatosis|angiotropic lymphoma|intravascular B-cell lymphoma|intravascular large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0020324	Intravascular large B-cell lymphoma (IVLBCL) is a very rare form of diffuse large B-cell lymphoma characterized by the selective growth of lymphoma cells within the lumina of small blood vessels (especially the capillaries) that most often presents with a wide range of clinical manifestations (as potentially any tissue can be involved), with patients from Western countries more frequently manifesting with neurological and cutaneous symptoms while patients from Asian countries more frequently displaying hepatosplenomegaly and thrombocytopenia. IVLBCL is characterized by an absence of lymphadenopathy, an aggressive clinical course and a poor prognosis.	UMLS:CN207146|ORPHA:98839|MEDDRA:10069643|NCIT:C4342|SNOMEDCT:255102004
RO:0002210	directly develops into	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002210	inverse of directly develops from	
MONDO:0020323	primary mediastinal large B-cell lymphoma	biolink:Disease	mondo	NCIT:C9280|UMLS:C1292754|MedDRA:10036710|ONCOTREE:PMBL|ICDO:9679/3|ICD10:C85.2|SCTID:444910004|DOID:0080210|ICD10:C83.3|Orphanet:98838	ordo_disease	mediastinal diffuse large-cell lymphoma with sclerosis|B-cell diffuse large cell lymphoma of the mediastinum|B-cell diffuse large cell lymphoma of mediastinum|primary mediastinal B-cell lymphoma|PMLCL|PMBL|primary mediastinal clear cell lymphoma of B-cell type|large cell lymphoma of the mediastinum|mediastinal (thymic) large B-cell lymphoma|mediastinal diffuse large cell lymphoma with sclerosis|Med-DLBCL|primary mediastinal large B-cell lymphoma|mediastinal B-cell diffuse large cell lymphoma|mediastinal large B-cell lymphoma|primary mediastinal (thymic) large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0020323	A large B-cell non-Hodgkin lymphoma arising in the mediastinum. Morphologically it is characterized by a massive diffuse lymphocytic proliferation associated with compartmentalizing fibrosis. Response to intensive chemotherapy, with or without radiotherapy, is usually good. (WHO, 2001)	DOID:0080210|MEDDRA:10036710|NCIT:C9280|UMLS:C0855152|ORPHA:98838|SNOMEDCT:444910004|UMLS:C1292754
MONDO:0010997	classic progressive supranuclear palsy syndrome	biolink:Disease	mondo	Orphanet:240071|ICD10:G23.1|OMIM:601104|UMLS:CN201679	ordo_clinical_subtype	Psp|classic PSP syndrome|PSNP1|supranuclear palsy, progressive, 1|supranuclear palsy, progressive, 1; PSNP1|Steele-Richardson-Olszewski syndrome|supranuclear palsy, progressive, type 1|Steele-Richardson-Olszewski disease|Richardson syndrome	http://purl.obolibrary.org/obo/MONDO_0010997	Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia.	UMLS:CN201679|ORPHA:240071|http://identifiers.org/omim/601104
MONDO:0007347	obsolete Coxsackievirus B3 susceptibility	biolink:Disease	mondo	OMIM:120050|UMLS:C1861511		Cb3S|Coxsackievirus B3 susceptibility; CXB3S|CXB3S|Coxsackievirus B3 susceptibility	http://purl.obolibrary.org/obo/MONDO_0007347		http://identifiers.org/omim/120050|UMLS:C1861511
MONDO:0020322	acute biphenotypic leukemia	biolink:Disease	mondo	Orphanet:98837|MedDRA:10067399|ICD10:C95.0|ICD9:207.80|UMLS:C0023464|DOID:9953|EFO:1000828|SCTID:278453007|MESH:D015456|ICDO:9805/3|NCIT:C4673	ordo_disease	B- and T-cell mixed leukemia	http://purl.obolibrary.org/obo/MONDO_0020322	An acute leukemia of ambiguous lineage characterized by blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (WHO, 2001)	SNOMEDCT:278453007|ORPHA:98837|UMLS:C0023464|MEDDRA:10067399|NCIT:C4673|DOID:9953|MESH:D015456
RO:0002211	regulates (processual)	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002211	process(P1) regulates process(P2) iff: P1 results in the initiation or termination of P2 OR affects the frequency of its initiation or termination OR affects the magnitude or rate of output of P2.	
MONDO:0007344	cluster headache, familial	biolink:Disease	mondo	UMLS:C1861513|OMIM:119915|MESH:C566117		hereditary cluster headache syndrome|cluster headache, familial	http://purl.obolibrary.org/obo/MONDO_0007344	An instance of cluster headache syndrome that is caused by an inherited modification of the individual's genome.	MESH:C566117|UMLS:C1861513|http://identifiers.org/omim/119915
HGNC:29007	FRMPD4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29007		
MONDO:0020321	acute undifferentiated leukemia	biolink:Disease	mondo	UMLS:C1282947|Orphanet:98835|ONCOTREE:AUL|ICD10:C95.0|UMLS:C0280141|SCTID:359631009|NCIT:C9298|MedDRA:10045516|UMLS:C0856823	ordo_disease	stem cell acute leukemia|undifferentiated acute leukemia|acute leukemia, NOS|acute leukemia not otherwise specified|acute undifferentiated leukemia|leukemia stem cell|acute myeloid leukemia, minimal differentiation, FAB M0|stem cell leukemia|AUL	http://purl.obolibrary.org/obo/MONDO_0020321	A rare acute leukemia of ambiguous lineage in which the blasts do not express markers specific to myeloid or lymphoid lineage.	NCIT:C9298|UMLS:C0856823|ORPHA:98835|UMLS:C0280141|UMLS:C1282947|MEDDRA:10045516|SNOMEDCT:359631009
MONDO:0010999	fallot complex-intellectual disability-growth delay syndrome	biolink:Disease	mondo	UMLS:C1832735|ICD10:Q87.8|Orphanet:3304|SCTID:723336008|GARD:0000893|OMIM:601127|MESH:C536608	ordo_malformation_syndrome	Bindewald-Ulmer-Müller syndrome|Bindewald Ulmer Muller syndrome|FALLOT complex with severe mental and growth retardation	http://purl.obolibrary.org/obo/MONDO_0010999	Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay.	ORPHA:3304|SNOMEDCT:723336008|UMLS:C1832735|MESH:C536608|http://identifiers.org/omim/601127
MONDO:0007345	aorta coarctation	biolink:Disease	mondo	UMLS:C0003492|Orphanet:1457|OMIM:120000|MedDRA:10009807|ICD10:Q25.1|GARD:0005828|SCTID:7305005|COHD:321119|EFO:1001267|ICD9:747.10|MESH:D001017|NCIT:C84567	ordo_morphological_anomaly	coarctation of aorta|coarctation of the aorta|aortic coarctation	http://purl.obolibrary.org/obo/MONDO_0007345	Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps.	http://identifiers.org/omim/120000|NCIT:C84567|MEDDRA:10009807|UMLS:C0003492|MESH:C531623|MESH:D001017|ORPHA:1457|SNOMEDCT:7305005
RO:0002212	negatively regulates	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002212	Process(P1) negatively regulates process(P2) iff: P1 terminates P2, or P1 descreases the the frequency of initiation of P2 or the magnitude or rate of output of P2.	
MONDO:0020320	acute myeloblastic leukemia with maturation	biolink:Disease	mondo	EFO:0003028|Orphanet:98834|ICD10:C92.0|ONCOTREE:AM|GARD:0000527|NCIT:C3250|ICDO:9874/3	ordo_disease|gard_rare	M2 acute myeloblastic leukemia with maturation|acute myelogenous leukemia with maturation|acute myeloblastic leukemia M2|M2 acute myeloblastic leukemia|AML with maturation|acute myeloblastic leukemia type 2|AML M2|M2 acute myeloid leukemia with maturation|M2 acute granulocytic leukemia|M2 acute myelogenous leukemia with maturation|M2 acute myeloid leukemia|AM|LAM M2|FAB M2|M2 acute myelocytic leukemia with maturation|M2 acute myelogenous leukemia|acute myeloid leukemia (AML-M2)|acute myelocytic leukemia with maturation|acute M2 myeloid leukemia|acute myeloid leukemia with maturation	http://purl.obolibrary.org/obo/MONDO_0020320	An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. (WHO, 2001)	ORPHA:98834|NCIT:C3250
MONDO:0007342	clubfoot	biolink:Disease	mondo	OMIM:119800|MESH:D003025|SCTID:397932003|DOID:11836|NCIT:C84641|ICD9:754.51|ICD10:Q66.0|ICD10:Q66.89		talipes|equinovarus deformity of foot (finding)|clubbed foot|congenital talipes equinovarus|clubfoot, congenital, with or without deficiency of long bones and/or mirror-IMAGE polydactyly|clubfoot, congenital, with or without deficiency of long bones and/or mirror-IMAGE polydactyly; CCF|equinovarus deformity of foot|congenital equinovarus|CCF|club foot|talipes equinovarus|congenital clubfoot	http://purl.obolibrary.org/obo/MONDO_0007342	The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply.	DOID:11836|SNOMEDCT:397932003|MESH:D003025|NCIT:C84641|http://identifiers.org/omim/119800
MONDO:0007343	isolated congenital digital clubbing	biolink:Disease	mondo	ICD10:Q68.1|OMIM:119900|Orphanet:217059	ordo_morphological_anomaly	acropachy, hereditary|isolated congenital acropachy|digital clubbing, isolated congenital|isolated congenital nail clubbing|clubbing of digits	http://purl.obolibrary.org/obo/MONDO_0007343	Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality.	http://identifiers.org/omim/119900|ORPHA:217059
MONDO:0007340	cleidocranial dysplasia	biolink:Disease	mondo	DOID:13994|MESH:D002973|ICD10:Q74.0|ICD9:755.59|Orphanet:1452|NCIT:C75020|OMIM:119600|SCTID:65976001|UMLS:C0008928|GARD:0006118	ordo_malformation_syndrome	cleidocranial dysplasia; CCD|CLCD|cleidocranial dysostosis|dysplasia cleidocranial|Marie-Sainton disease|cleidocranial dysplasia|cleidocranial dysplasia, forme fruste, dental anomalies only|CCD|cleidocranial dysplasia, forme fruste, with brachydactyly	http://purl.obolibrary.org/obo/MONDO_0007340	Cleidocranial dysplasia (CCD) is a condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis, hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. CCD is caused by changes (mutations) in the RUNX2 gene and inheritance is autosomal dominant. It may be inherited from an affected parent or occur due to a new mutation in the RUNX2 gene. Management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems.	MESH:D002973|ORPHA:1452|NCIT:C75020|SNOMEDCT:65976001|http://identifiers.org/omim/119600|UMLS:C0008928|DOID:13994
MONDO:0007341	cleidorhizomelic syndrome	biolink:Disease	mondo	UMLS:C1861515|SCTID:719471002|MESH:C536428|OMIM:119650|ICD10:Q77.8|Orphanet:1453|GARD:0005532	gard_rare|ordo_malformation_syndrome	Wallis-Zieff-Goldblatt syndrome|cleidorhizomelic syndrome|cleido rhizomelic syndrome|brachydactyly, enlarged diaphysis, rhizomelic micromelia, short stature and abnormal clavicle|Wallis Zieff Goldblatt syndrome|rhizomelic shortness with clavicular defect	http://purl.obolibrary.org/obo/MONDO_0007341	Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988.	UMLS:C1861515|ORPHA:1453|MESH:C536428|http://identifiers.org/omim/119650|SNOMEDCT:719471002
HGNC:20670	TWIST2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20670		
RO:0002207	directly develops from	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002207	Candidate definition: x directly_develops from y if and only if there exists some developmental process (GO:0032502) p such that x and y both participate in p, and x is the output of p and y is the input of p, and a substantial portion of the matter of x comes from y, and the start of x is coincident with or after the end of y.	
MONDO:0020319	obsolete acute myeloblastic leukemia without maturation	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0020319		
MONDO:0020318		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0020318		
MONDO:0020317	acute myeloid leukemia with 11q23 abnormalities	biolink:Disease	mondo	ICDO:9897/3|ICD10:C92.6|Orphanet:98831|NCIT:C82403|SCTID:444911000	ordo_disease	acute myeloid Leukemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A|AML with t(9;11)(p22;q23); MLLT3-MLL|acute myeloid leukemia with MLL abnormalities|acute myeloid leukemia with t(9;11)(p22;q23); MLLT3-MLL|acute myeloid leukemia with t(9;11)(p22.3;q23.3); MLLT3-KMT2A|acute myeloid Leukemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A|acute myeloid leukemia with 11q23 (MLL) abnormalities|AML with 11q23 abnormalities	http://purl.obolibrary.org/obo/MONDO_0020317	An acute myeloid leukemia associated with t(9;11)(p22.3;q23.3) and MLLT3-KMT2A fusion protein expression. Morphologically it usually has monocytic features. It may present at any age but it is more commonly seen in children. Patients may present with disseminated intravascular coagulation.	NCIT:C82403|SNOMEDCT:444911000|ORPHA:98831|UMLS:C1292775
MONDO:0019339	47,XYY syndrome	biolink:Disease	mondo	ICD10:Q98.5|NCIT:C85237|SCTID:50749006|MESH:C535317|MedDRA:10056894|Orphanet:8|GARD:0005674	ordo_malformation_syndrome	XYY syndrome|Double Y|XYY karyotype|47,XYY syndrome|Double Y syndrome|disomy Y|Y disomy|47,XYY|YY syndrome|47, XYY syndrome	http://purl.obolibrary.org/obo/MONDO_0019339	47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder.	NCIT:C85237|MEDDRA:10056894|UMLS:C0043379|MESH:D014997|ORPHA:8|MESH:C535317|SNOMEDCT:50749006
RO:0002202	develops_from	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002202	x develops from y if and only if either (a) x directly develops from y or (b) there exists some z such that x directly develops from z and z develops from y	
MONDO:0019338	sarcoidosis	biolink:Disease	mondo	DOID:11335|COHD:438688|ICD10:D86.8|SCTID:31541009|ICD9:135|NCIT:C34995|ICD10:D80-D89|ICD10:D86.3|ICD10:D86.2|ICD10:D86|ICD10:D86.1|ICD10:D86.0|ICD10:D86.9|MESH:D012507|Orphanet:797|UMLS:C0036202|MedDRA:10039486	ordo_disease	Besnier-Boeck-Schaumann disease|sarcoidosis|lupus pernio of Besnier|Darier-Roussy sarcoid|Boeck's sarcoid|Boeck sarcoid|Boeck's sarcoidosis|besnier-Boeck-Schaumann syndrome|sarcoid|benign lymphogranulomatosis of Schaumann|miliary lupoid of boeck|lymphogranulomatosis	http://purl.obolibrary.org/obo/MONDO_0019338	Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.	DOID:11335|MEDDRA:10039486|SNOMEDCT:31541009|MESH:D012507|ORPHA:797|UMLS:C0036202|NCIT:C34995
MONDO:0020316	acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)	biolink:Disease	mondo	Orphanet:98829|GARD:0000536|ICD10:C92.5	gard_rare|ordo_disease	AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22)|AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)|acute myelomonocytic leukemia|CBFB-MYH11	http://purl.obolibrary.org/obo/MONDO_0020316	Acute myelomonocytic leukemia (AMML) is a cancer that typically develops in the bone marrow and blood of older individuals.AMML is one type of acute myeloid leukemia, a group of blood cancers that occur when the amount of white blood cells increases rapidly. Symptoms of AMML often include fatigue (due to anemia) or easy bruising or bleeding (due to thrombocytopenia). The cause of AMML is currently unknown. Treatment typically consists of chemotherapy.	ORPHA:98829
RO:0002203	develops_into	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002203	inverse of develops from	
MONDO:0020315	unclassified myelodysplastic syndrome	biolink:Disease	mondo	Orphanet:98827|UMLS:CN207136|ICD10:D46.7	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0020315	Unclassified myelodysplastic syndrome (MDS-U) is a subtype of myelodysplastic syndrome (MDS) with atypical features of uncertain clinical significance.	ORPHA:98827|UMLS:CN207136
MONDO:0020314	obsolete refractory anemia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0020314		
MONDO:0019335	mild hyperphenylalaninemia	biolink:Disease	mondo	Orphanet:79651|ICD10:E70.1	ordo_clinical_subtype	non-PKU HPA|mild HPA|mHPA	http://purl.obolibrary.org/obo/MONDO_0019335	Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by mild symptoms of HPA.	ORPHA:79651
MONDO:0034976	iatrogenic Creutzfeldt-Jakob disease	biolink:Disease	mondo	Orphanet:576379	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0034976		ORPHA:576379
MONDO:0022977	diaphragmatic hernia exomphalos corpus callosum agenesis	biolink:Disease	mondo	GARD:0001846	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022977		
MONDO:0019334	autosomal recessive hyperinsulinism due to Kir6.2 deficiency	biolink:Disease	mondo	ICD10:E16.1|Orphanet:79644|UMLS:CN206003	ordo_disease	autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency	http://purl.obolibrary.org/obo/MONDO_0019334		UMLS:CN206003|ORPHA:79644
MONDO:0022978	diaphragmatic hernia upper limb defects	biolink:Disease	mondo	GARD:0001847	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022978		
MONDO:0019337	autoimmune bullous skin disease	biolink:Disease	mondo	DOID:8502|EFO:1000673|ICD9:694.9|COHD:137944|SCTID:7231009|Orphanet:79669|UMLS:CN206006|ICD9:694.8	ordo_group_of_disorders	bullous skin disease|bullous dermatosis	http://purl.obolibrary.org/obo/MONDO_0019337	An autoimmune disease characterized by blisters on the skin.	DOID:8502|SNOMEDCT:7231009|UMLS:CN206006|ORPHA:79669
HGNC:19688	NECTIN4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19688		
MONDO:0019336	Gardner syndrome	biolink:Disease	mondo	NCIT:C6728|UMLS:C0017097|Orphanet:79665|ICD9:759.89|MESH:D005736|GARD:0006482|SCTID:60876000|MedDRA:10017727|ICD10:D12.6	ordo_clinical_subtype	Gardner's syndrome|intestinal polyposis, osteomas, sebaceous cysts|Gardner syndrome|polyposis coli and multiple hard and soft tissue tumors	http://purl.obolibrary.org/obo/MONDO_0019336	Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors.	NCIT:C6728|UMLS:C0017097|MESH:D005736|MEDDRA:10017727|SNOMEDCT:60876000|ORPHA:79665
HGNC:19689	RD3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19689		
MONDO:0019331	obsolete rare form of salmonellosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019331		
HGNC:17023	RNF139	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17023		
MONDO:0019330	pili gemini	biolink:Disease	mondo	MESH:C537188|ICD10:L67.8|ICD9:704.8|Orphanet:79492|SCTID:42829009	ordo_disease	pili multigemini	http://purl.obolibrary.org/obo/MONDO_0019330	Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair.	MESH:C537188|SNOMEDCT:42829009|ORPHA:79492
HGNC:19687	EIF2AK4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19687		
HGNC:17022	HPS5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17022		
MONDO:0019333	autosomal recessive hyperinsulinism due to SUR1 deficiency	biolink:Disease	mondo	ICD10:E16.1|UMLS:CN206002|Orphanet:79643	ordo_disease	autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency	http://purl.obolibrary.org/obo/MONDO_0019333		UMLS:CN206002|ORPHA:79643
MONDO:0019332	punctate palmoplantar keratoderma type 1	biolink:Disease	mondo	SCTID:717184007|GARD:0003103|UMLS:CN205995|ICD10:Q82.8|Orphanet:79501	ordo_disease	Buschke-Fischer-Brauer syndrome|keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type|PPKP1|punctate palmoplantar keratoderma type I|type I punctate palmoplantar keratoderma|Brauer-Buschke-Fischer syndrome|keratoderma, palmoplantar punctate type 1	http://purl.obolibrary.org/obo/MONDO_0019332	Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients..	UMLS:CN205995|SNOMEDCT:717184007|ORPHA:79501
HGNC:17024	PHF11	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17024		
HGNC:30000	BBS9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30000		
HGNC:19693	COQ4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19693		
HGNC:19691	MECR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19691		
MONDO:0022971	diabetes persistent mullerian ducts	biolink:Disease	mondo	GARD:0001840	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022971		
MONDO:0022972	diabetic mastopathy	biolink:Disease	mondo	MESH:C537524|SCTID:724136006|GARD:0008322	gard_rare	diabetic fibrous mastopathy|sclerosing lymphocytic lobulitis|diabetic fibrous breast disease|lymphocytic mastitis|lymphocytic mastopathy	http://purl.obolibrary.org/obo/MONDO_0022972	Diabetic mastopathy are noncancerous lesions in the breast most commonly diagnosed in premenopausal women with type 1 diabetes. The cause of this condition is unknown. Symptoms may include hard, irregular, easily movable, discrete, painless breast mass(es).	MESH:C537524|SNOMEDCT:724136006
MONDO:0007359	commissural lip pits	biolink:Disease	mondo	OMIM:120500|SCTID:109550008		commissural lip pits	http://purl.obolibrary.org/obo/MONDO_0007359		http://identifiers.org/omim/120500|SNOMEDCT:109550008
MONDO:0022975	diaphragmatic agenesis radial aplasia omphalocele	biolink:Disease	mondo	GARD:0001843	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022975		
MONDO:0044302	congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	biolink:Disease	mondo	OMIM:617360|UMLS:C4479246		CHDFIDD|congenital heart defects, dysmorphic FACIAL features, and intellectual developmental disorder; CHDFIDD	http://purl.obolibrary.org/obo/MONDO_0044302		UMLS:C4479246|http://identifiers.org/omim/617360
MONDO:0010987	autosomal recessive nonsyndromic deafness 8	biolink:Disease	mondo	DOID:0110527|ICD10:H90.3|OMIM:601072|UMLS:C1832827		DFNB10|deafness, autosomal recessive 8|NRSD8|deafness, autosomal recessive 10|autosomal recessive deafness 8|DFNB8|deafness, childhood-onset neurosensory, autosomal recessive 8|autosomal recessive deafness 10|autosomal recessive nonsyndromic deafness type 8|deafness, autosomal recessive type 8|childhood-onset neurosensory autosomal recessive deafness 8|neurosensory nonsyndromic recessive deafness 8|deafness, autosomal recessive 8; DFNB8	http://purl.obolibrary.org/obo/MONDO_0010987	An autosomal recessive nonsyndromic deafness that has material basis in mutation in the TMPRSS3 gene on chromosome 21q22.	http://identifiers.org/omim/601072|UMLS:C1832827|DOID:0110527
MONDO:0007357	colonic varices without portal hypertension	biolink:Disease	mondo	MESH:C565172|UMLS:C1852721|OMIM:120440		colonic varices without portal hypertension	http://purl.obolibrary.org/obo/MONDO_0007357		http://identifiers.org/omim/120440|UMLS:C1852721|MESH:C565172
MONDO:0020313	unclassified myelodysplastic/myeloproliferative disease	biolink:Disease	mondo	Orphanet:98825|UMLS:CN207134	ordo_disease	unclassified mixed myelodysplastic/myeloproliferatic syndrome	http://purl.obolibrary.org/obo/MONDO_0020313		ORPHA:98825|UMLS:CN207134
MONDO:0007358	comedones, familial Dyskeratotic	biolink:Disease	mondo	SCTID:254219004|UMLS:C0345424|OMIM:120450|ICD9:757.39|MESH:C562838		comedones, familial Dyskeratotic	http://purl.obolibrary.org/obo/MONDO_0007358		SNOMEDCT:254219004|http://identifiers.org/omim/120450|MESH:C562838|UMLS:C0345424
MONDO:0010986	autosomal recessive nonsyndromic deafness 9	biolink:Disease	mondo	ICD10:H90.3|DOID:0110535|OMIM:601071		autosomal recessive deafness 9|OTOF autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 9|auditory neuropathy, autosomal recessive, 1|NRSD9|deafness, autosomal recessive type 9|DFNB9|autosomal recessive nonsyndromic deafness type 9|neurosensory nonsyndromic recessive deafness 9|autosomal recessive nonsyndromic deafness caused by mutation in OTOF|deafness, autosomal recessive 9; DFNB9|auditory neuropathy, nonsyndromic recessive	http://purl.obolibrary.org/obo/MONDO_0010986	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOF gene.	DOID:0110535|http://identifiers.org/omim/601071
MONDO:0044301	aortic aneurysm, familial thoracic 11, susceptibility to	biolink:Disease	mondo	OMIM:617349	predisposition	aortic aneurysm, familial thoracic 11, susceptibility to; AAT11|AAT11	http://purl.obolibrary.org/obo/MONDO_0044301		http://identifiers.org/omim/617349
MONDO:0020312	atypical chronic myeloid leukemia	biolink:Disease	mondo	MedDRA:10054651|ICD10:C92.2|DOID:0060597|Orphanet:98824	ordo_disease	atypical chronic myeloid leukemia BCR-ABL1 negative|aCML|atypical CML|subacute myeloid leukemia|subacute granulocytic leukemia|subacute myelogenous leukemia	http://purl.obolibrary.org/obo/MONDO_0020312		MEDDRA:10054651|ORPHA:98824|MESH:D054438|UMLS:C0349640|DOID:0060597
HGNC:29017	PLEKHM1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29017		
MONDO:0020311	chronic myelomonocytic leukemia	biolink:Disease	mondo	UMLS:C0023480|ICDO:9945/3|ONCOTREE:CMML|MESH:D015477|Orphanet:98823|DOID:0080188|MedDRA:10009018|ICD10:C93.1|GARD:0008225|NCIT:C3178|SCTID:127225006	ordo_disease	CMML|chronic myelomonocytic leukemia (CMML)|chronic myelomonocytic leukemia	http://purl.obolibrary.org/obo/MONDO_0020311	A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement.	MESH:D015477|DOID:0080188|SNOMEDCT:127225006|ORPHA:98823|UMLS:C0023480|MEDDRA:10009018|NCIT:C3178
MONDO:0007355	uveal coloboma-cleft lip and palate-intellectual disability	biolink:Disease	mondo	UMLS:C0795902|Orphanet:1473|OMIM:120433|MESH:C535971|ICD10:Q12.2|DOID:0111249|GARD:0001440	ordo_malformation_syndrome	uveal coloboma-cleft lip/palate-mental retardation syndrome|coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate|coloboma, cleft lip/palate and mental retardation syndrome|coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or intellectual disability; COB1|coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation; COB1|coloboma, cleft lip/palate and intellectual disability syndrome|coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation|coloboma-microphthalmos syndrome|coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or intellectual disability|COB1|uveal coloboma-cleft lip/palate-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0007355	Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant.	http://identifiers.org/omim/120433|ORPHA:1473|UMLS:C0795902|DOID:0111249|MESH:C535971
MONDO:0044304	hyperphenylalaninemia due to DNAJC12 deficiency	biolink:Disease	mondo	UMLS:C4479270|OMIM:617384|Orphanet:508523	ordo_disease	hyperphenylalaninemia, mild, non-BH4-deficient; HPANBH4|HPANBH4	http://purl.obolibrary.org/obo/MONDO_0044304	Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by {1:Anikster et al., 2017}).	UMLS:C4479270|ORPHA:508523|http://identifiers.org/omim/617384
MONDO:0010989	Mayer-Rokitansky-Küster-Hauser syndrome type 2	biolink:Disease	mondo	SCTID:717705004|Orphanet:2578|OMIM:601076|ICD10:Q87.8|GARD:0005513	ordo_clinical_subtype	MURCS association|Mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome|Mayer-Rokitansky-Küster-Hauser syndrome type 2|MRKH, type 2|MULLERIAN duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies; MURCS|Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome|Mayer-Rokitansky-Kuster-Hauser syndrome, type 2|Klippel-Feil deformity, conductive deafness, and absent vagina|MURCS|MULLERIAN duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies|atypical MRKH syndrome|MRKH syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0010989	Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome, is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used.	SNOMEDCT:717705004|http://identifiers.org/omim/601076|ORPHA:2578|UMLS:C1832817
RO:0002200	has phenotype	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002200	A relationship that holds between a biological entity and a phenotype. Here a phenotype is construed broadly as any kind of quality of an organism part, a collection of these qualities, or a change in quality or qualities (e.g. abnormally increased temperature). The subject of this relationship can be an organism (where the organism has the phenotype, i.e. the qualities inhere in parts of this organism), a genomic entity such as a gene or genotype (if modifications of the gene or the genotype causes the phenotype), or a condition such as a disease (such that if the condition inheres in an organism, then the organism has the phenotype).	
MONDO:0007356	Lynch syndrome 1	biolink:Disease	mondo	DOID:0070271|OMIM:120435|NCIT:C6725		Lynch syndrome type 1|colorectal cancer, hereditary nonpolyposis, type 1|LYNCH syndrome I|hereditary nonpolyposis colorectal cancer type 1|familial non-polyposis colon cancer type 1|Lynch 1 syndrome|colon cancer, familial nonpolyposis, type 1|HNPCC1|COCA1|Lynch syndrome 2|Hereditary non-polyposis colon cancer type 1	http://purl.obolibrary.org/obo/MONDO_0007356	A rare genetic neoplastic syndrome with an autosomal dominant pattern of inheritance but incomplete penetrance. It is associated with a greater than 70 % risk of developing colorectal carcinoma. It is caused by a mutation in one of the mismatch repair genes: MSH2, MLH1, MSH6 or PMS2. It usually manifests at age 50 or younger with multiple synchronous or metachronous colorectal carcinomas. Clinical course is rapidly progressive. Prognosis is variable with a high risk for the development of additional colorectal carcinomas. However, survival is significantly better than non-HNPCC carcinomas of equivalent stage.	http://identifiers.org/omim/120435|DOID:0070271|NCIT:C6725
MONDO:0010988	aplasia cutis-myopia syndrome	biolink:Disease	mondo	ICD10:Q84.8|SCTID:720499004|GARD:0000756|Orphanet:1117|OMIM:601075|MESH:C563394	gard_rare|ordo_disease	Gershoni-Baruch-Leibo syndrome|aplasia cutis congenita, high myopia, and cone-rod dysfunction|aplasia cutis myopia	http://purl.obolibrary.org/obo/MONDO_0010988	Aplasia cutis-myopia syndrome is characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.	http://identifiers.org/omim/601075|ORPHA:1117|MESH:C563394|SNOMEDCT:720499004
MONDO:0044303	congenital heart defects and ectodermal dysplasia	biolink:Disease	mondo	UMLS:C4479250|OMIM:617364		CHDED|congenital heart defects and ectodermal dysplasia; CHDED	http://purl.obolibrary.org/obo/MONDO_0044303		UMLS:C4479250|http://identifiers.org/omim/617364
MONDO:0020310	familial focal epilepsy with variable foci	biolink:Disease	mondo	MESH:C565785|Orphanet:98820|DC:0000729|GARD:0013295|OMIMPS:604364|SCTID:764522009|UMLS:CN207131	ordo_disease|prototype_pattern	FFEVF|epilepsy, familial focal, with variable foci|familial partial epilepsy with variable foci	http://purl.obolibrary.org/obo/MONDO_0020310	Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described.	SNOMEDCT:764522009|UMLS:CN207131|ORPHA:98820|MESH:C565785
RO:0002201	phenotype of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002201	inverse of has phenotype	
MONDO:0007353	coloboma of macula-brachydactyly type B syndrome	biolink:Disease	mondo	UMLS:C1852752|GARD:0001437|Orphanet:1471|OMIM:120400|MESH:C535969|ICD10:Q87.1|SCTID:717785002	ordo_malformation_syndrome	Sorsby syndrome|apical dystrophy|coloboma of macula with type B brachydactyly	http://purl.obolibrary.org/obo/MONDO_0007353	Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner.	UMLS:C1852752|ORPHA:1471|SNOMEDCT:717785002|MESH:C535969|http://identifiers.org/omim/120400
MONDO:0007354	coloboma of optic nerve (disease)	biolink:Disease	mondo	OMIM:120430|ICD10:Q14.2|ICD10:H47.319|SCTID:17541006|ICD10:H47.31|MESH:C535970|DOID:11975|HP:0000588|GARD:0008502|ICD9:377.23		coloboma of optic nerve|morning glory Disc anomaly|optic nerve coloboma|coloboma of optic disc|congenital coloboma of the optic nerve|optic nerve head pits, bilateral congenital	http://purl.obolibrary.org/obo/MONDO_0007354		http://identifiers.org/omim/120430|DOID:11975|SNOMEDCT:17541006|MESH:C535970
MONDO:0044300	familial adenomatous polyposis 4	biolink:Disease	mondo	OMIM:617100|DOID:0080412		FAP4|FAP4|familial adenomatous polyposis 4|familial adenomatous polyposis 4; FAP4|familial adenomatous polyposis type 4|familial adenomatous polyposis 4; FAP4	http://purl.obolibrary.org/obo/MONDO_0044300	Familial adenomatous polyposis-4 is an autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur (summary by {1:Adam et al., 2016}).nnFor a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (OMIM:175100).	DOID:0080412|http://identifiers.org/omim/617100
MONDO:0007351	coloboma of macula	biolink:Disease	mondo	Orphanet:98945|ICD10:Q14.8|GARD:0001436|OMIM:120300	ordo_morphological_anomaly	macular coloboma|agenesis of macula|hereditary macular coloboma (subtype)|coloboma of macula	http://purl.obolibrary.org/obo/MONDO_0007351	Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.	ORPHA:98945|http://identifiers.org/omim/120300
MONDO:0007352	renal coloboma syndrome	biolink:Disease	mondo	SCTID:446449009|DOID:0090006|NCIT:C123230|OMIM:120330|Orphanet:1475|GARD:0004106|ICD10:Q60.4|UMLS:C1852759|MESH:C537168|ICD9:759.89	gard_rare|ordo_malformation_syndrome	papillorenal syndrome|CAKUT with or without ocular abnormalities|optic coloboma, vesicoureteral reflux and renal anomalies|renal-coloboma syndrome with macular abnormalities|optic nerve coloboma with renal disease|Papillo-renal syndrome|papillo-renal syndrome, optic nerve coloboma with renal disease|PAPILLORENAL syndrome; PAPRS|renal-coloboma syndrome|optic coloboma, vesicoureteral reflux, and renal anomalies|congenital anomalies of the kidney and urinary tract with or without ocular abnormalities|PAPILLORENAL syndrome|coloboma of optic nerve with renal disease|PAPRS	http://purl.obolibrary.org/obo/MONDO_0007352	Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.	UMLS:C1852759|NCIT:C123230|MESH:C537168|ORPHA:1475|SNOMEDCT:446449009|DOID:0090006|http://identifiers.org/omim/120330
MONDO:0010990	Cd4/CD8 T-cell ratio	biolink:Disease	mondo	OMIM:601083		Cd4/CD8 T-cell ratio	http://purl.obolibrary.org/obo/MONDO_0010990		http://identifiers.org/omim/601083
MONDO:0007350	coloboma, ocular, autosomal dominant	biolink:Disease	mondo	OMIM:120200		coloboma, Uveoretinal|coloboma, ocular, autosomal dominant|coloboma of iris, choroid, and retina	http://purl.obolibrary.org/obo/MONDO_0007350		http://identifiers.org/omim/120200
MONDO:0020309	obsolete Landau-Kleffner syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0020309		
MONDO:0010992	Ayme-Gripp syndrome	biolink:Disease	mondo	UMLS:C1832812|DOID:0111688|MESH:C563390|OMIM:601088|Orphanet:477668|EFO:0009020	ordo_malformation_syndrome	Aymé-Gripp syndrome|AYGRP|Ayme-Gripp syndrome|cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and mental retardation|cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and intellectual disability|AYME-Gripp syndrome; AYGRP	http://purl.obolibrary.org/obo/MONDO_0010992		UMLS:C1832812|DOID:0111688|ORPHA:477668|MESH:C563390|http://identifiers.org/omim/601088
MONDO:0020308	benign childhood occipital epilepsy, Gastaut type	biolink:Disease	mondo	Orphanet:98816|ICD10:G40.0|UMLS:CN207128	ordo_clinical_subtype	late-onset benign childhood occipital epilepsy	http://purl.obolibrary.org/obo/MONDO_0020308	Benign childhood occipital epilepsy, Gastaut type is a rare, genetic neurological disorder characterized by childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculoclonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare.	ORPHA:98816|UMLS:CN207128
MONDO:0020307	benign childhood occipital epilepsy, Panayiotopoulos type	biolink:Disease	mondo	ICD9:345.80|Orphanet:98815|SCTID:230387008|ICD10:G40.0|UMLS:CN207127	ordo_clinical_subtype	Panayiotopoulos syndrome|early-onset benign childhood occipital epilepsy	http://purl.obolibrary.org/obo/MONDO_0020307	Benign childhood occipital epilepsy, Panayiotopoulos type is a rare, genetic neurological disorder characterized by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalized convulsion. Autonomic status epilepticus may be the only clinical event in some cases.	UMLS:CN207127|ORPHA:98815|SNOMEDCT:230387008
MONDO:0010991	laterality defects, autosomal dominant	biolink:Disease	mondo	OMIM:601086|MESH:C563391|GARD:0003198|UMLS:C1832813		laterality defects dominant|laterality defects, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0010991		UMLS:C1832813|MESH:C563391|http://identifiers.org/omim/601086
MONDO:0020306	absent tibia-polydactyly syndrome	biolink:Disease	mondo	DOID:0111564|ICD10:Q87.2|GARD:0008309|UMLS:C1861099|Orphanet:988|MESH:C535564	ordo_malformation_syndrome	tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome|polydactyly with absent tibia|absence of tibia with polydactyly	http://purl.obolibrary.org/obo/MONDO_0020306	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.	UMLS:C1861099|DOID:0111564|ORPHA:988|MESH:C535564
MONDO:0019328	macrocystic lymphatic malformation	biolink:Disease	mondo	NCIT:C53316|Orphanet:79489|GARD:0006010|ICD10:D18.1	ordo_malformation_syndrome	cavernous lymphangioma|cavernous lymphatic malformation|macrocystic lymphangioma	http://purl.obolibrary.org/obo/MONDO_0019328	A lymphangioma characterized by the presence of thin-walled cavernous lymphatic spaces.	ORPHA:79489|NCIT:C53316
MONDO:0010994	micromelic dwarfism, Fryns type	biolink:Disease	mondo	UMLS:C1832800|MESH:C537556|Orphanet:2641|ICD10:Q77.8|OMIM:601096|GARD:0003642|SCTID:715479009	ordo_disease	dwarfism, micromelic, with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects|spondyloepimetaphyseal dysplasia micromelic|micromelic dwarfism with cone epiphyses, metaphyseal dysplasia and vertebral segmentation defects|spondyloepimetaphyseal dysplasia, micromelic|SEMD, micromelic	http://purl.obolibrary.org/obo/MONDO_0010994		ORPHA:2641|MESH:C537556|UMLS:C1832800|SNOMEDCT:715479009|http://identifiers.org/omim/601096
MONDO:0010993	Harrod syndrome	biolink:Disease	mondo	Orphanet:2115|SCTID:716089008|MESH:C535635|UMLS:C0795970|GARD:0002601|OMIM:601095|ICD10:Q87.8	ordo_malformation_syndrome	craniofacial digital genital anomalies|cranio-facio-digito-genital syndrome|Harrod syndrome|Harrod Doman Keele syndrome	http://purl.obolibrary.org/obo/MONDO_0010993	Harrod syndrome is characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive.	UMLS:C0795970|MESH:C535635|http://identifiers.org/omim/601095|SNOMEDCT:716089008|ORPHA:2115
MONDO:0019327	phakomatosis spilorosea	biolink:Disease	mondo	Orphanet:79485|ICD10:Q85.8|ICD9:759.6|UMLS:CN205986|SCTID:703285005	ordo_clinical_subtype	phakomatosis pigmentovascularis type 3	http://purl.obolibrary.org/obo/MONDO_0019327		ORPHA:79485|SNOMEDCT:703285005|UMLS:CN205986
MONDO:0020305	isochromosomy Yq	biolink:Disease	mondo	Orphanet:98798|ICD10:Q98.6	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0020305	Isochromosomy Yq is a rare gonosomy anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia.	ORPHA:98798
MONDO:0010996	hereditary hemorrhagic telangiectasia type 3	biolink:Disease	mondo	MESH:C537140|OMIM:601101|GARD:0009902	gard_rare	telangiectasia, hereditary hemorrhagic, type 3|HHT3|telangiectasia, hereditary hemorrhagic, type 3; HHT3|telangiectasia hereditary hemorrhagic type 3|ORW3|Osler Weber Rendu syndrome type 3	http://purl.obolibrary.org/obo/MONDO_0010996		MESH:C537140|http://identifiers.org/omim/601101
MONDO:0020304	isochromosomy Yp	biolink:Disease	mondo	SCTID:766708008|Orphanet:98797|ICD10:Q98.6	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0020304	Isochromosomy Yp is a rare gonosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization.	SNOMEDCT:766708008|ORPHA:98797
MONDO:0010995	Charcot-Marie-Tooth disease type 1C	biolink:Disease	mondo	Orphanet:101083|DOID:0110151|MESH:C537984|GARD:0001247|UMLS:C0270913|OMIM:601098|ICD10:G60.0	gard_rare|ordo_disease	Charcot-Marie-Tooth neuropathy, type 1C|HMSN IC|CMT slow nerve conduction type C|neuropathy, hereditary motor and sensory, type 1C|HMSN 1C|CMT 1C|Charcot Marie Tooth disease type 1C|CMT, slow nerve conduction type C|Charcot-Marie-Tooth neuropathy type 1C|CMT1C|Charcot-Marie-Tooth disease, demyelinating, type 1C; CMT1C|neuropathy hereditary motor and sensory type 1C|Charcot-Marie-Tooth disease type 1 caused by mutation in LITAF|Charcot-Marie-Tooth disease, demyelinating, type 1C|LITAF Charcot-Marie-Tooth disease type 1|HMSN1C	http://purl.obolibrary.org/obo/MONDO_0010995	Any Charcot-Marie-Tooth disease type 1 in which the cause of the disease is a mutation in the LITAF gene.	UMLS:C0270913|DOID:0110151|MESH:C537984|ORPHA:101083|http://identifiers.org/omim/601098
MONDO:0020303	Angelman syndrome due to paternal uniparental disomy of chromosome 15	biolink:Disease	mondo	ICD10:Q93.5|UMLS:CN207117|Orphanet:98795	ordo_etiological_subtype	UPD(15)pat|Angelman syndrome due to paternal uniparental disomy of chromosome type 15	http://purl.obolibrary.org/obo/MONDO_0020303		ORPHA:98795|UMLS:CN207117
MONDO:0019329	microcystic lymphatic malformation	biolink:Disease	mondo	GARD:0013020|ICD10:D18.1|Orphanet:79490	ordo_malformation_syndrome	cutaneous lymphangioma circumscriptum|superficial lymphangioma|microcystic infiltrating lymphatic malformation|capillary lymphangioma|microcystic lymphangioma|superficial lymphatic malformation|capillary lymphatic malformation	http://purl.obolibrary.org/obo/MONDO_0019329		ORPHA:79490
MONDO:0022965	desmoplastic infantile ganglioglioma	biolink:Disease	mondo	GARD:0008648|UMLS:C1321878|ONCOTREE:DIG|NCIT:C4738	gard_rare	Desmoplastic infantile ganglioglioma|DIG	http://purl.obolibrary.org/obo/MONDO_0022965	A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population of neoplastic astrocytes together with a variable neuronal component. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as a large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)	NCIT:C4738|UMLS:C1321878
MONDO:0019324	pemphigus foliaceus	biolink:Disease	mondo	UMLS:C0263313|SCTID:35154004|GARD:0007354|HGNC:3050|Orphanet:79481|MedDRA:10057069|ICD10:L10.2|EFO:0008601	gard_rare|ordo_disease	PF	http://purl.obolibrary.org/obo/MONDO_0019324	Pemphigus foliaceous is a rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement is rarely observed.	SNOMEDCT:35154004|UMLS:C0263313|ORPHA:79481|MEDDRA:10057069
MONDO:0034987	intraductal tubulopapillary neoplasm of pancreas	biolink:Disease	mondo	Orphanet:580572	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0034987		ORPHA:580572
MONDO:0019323	pemphigus erythematosus	biolink:Disease	mondo	UMLS:C0263312|ICD10:L10.4|SCTID:36739006|Orphanet:79480|EFO:0008603|MedDRA:10058917	ordo_disease	Senear-Usher syndrome|seborrheic pemphigus	http://purl.obolibrary.org/obo/MONDO_0019323	Pemphigus erythematosus is a rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed.	MEDDRA:10058917|SNOMEDCT:36739006|UMLS:C0263312|ORPHA:79480
MONDO:0019326	phakomatosis cesiomarmorata	biolink:Disease	mondo	Orphanet:79484|ICD10:Q85.8|ICD9:759.6|UMLS:CN205985|SCTID:703286006	ordo_clinical_subtype	phakomatosis caesiomarmorata|phakomatosis pigmentovascularis type 5|phakomatosis cesiomarmorata	http://purl.obolibrary.org/obo/MONDO_0019326		ORPHA:79484|SNOMEDCT:703286006|UMLS:CN205985
MONDO:0019325	phakomatosis cesioflammea	biolink:Disease	mondo	ICD10:Q85.8|Orphanet:79483|SCTID:703284009|ICD9:759.6|UMLS:CN205984	ordo_clinical_subtype	phakomatosis pigmentovascularis type 2	http://purl.obolibrary.org/obo/MONDO_0019325		ORPHA:79483|UMLS:CN205984|SNOMEDCT:703284009
MONDO:0022968	dextrocardia with situs inversus	biolink:Disease	mondo	GARD:0006268	gard_rare	situs inversus totalis	http://purl.obolibrary.org/obo/MONDO_0022968	Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia, the tip of the heart points towards the right side of the chest instead of the left side. Situs inversus refers to the mirror-image reversal of the organs in the chest and abdominal cavity. Some affected people have no obvious signs or symptoms. However, a small percentage of people also have congenital heart defects, usually transposition of the great vessels. Dextrocardia with situs inversus can also be associated with primary ciliary dyskinesia (also known as Kartagener syndrome). Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus.	
MONDO:0019320	acanthokeratolytic verrucous nevus	biolink:Disease	mondo	GARD:0005485|ICD10:Q82.5|UMLS:CN205975|Orphanet:79468	gard_rare|ordo_clinical_subtype	verrucous nevus acanthokeratolytic	http://purl.obolibrary.org/obo/MONDO_0019320		UMLS:CN205975|ORPHA:79468
HGNC:19698	KCNV2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19698		
MONDO:0019322	pemphigus vegetans	biolink:Disease	mondo	Orphanet:79479|UMLS:CN205981|ICD10:L10.1|SCTID:81285006|UMLS:C0263316|EFO:0008613|MedDRA:10057053	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0019322		UMLS:CN205981|SNOMEDCT:81285006|UMLS:C0406647|UMLS:C0263316|ORPHA:79479|MEDDRA:10057053
MONDO:0019321	atypical Werner syndrome	biolink:Disease	mondo	Orphanet:79474|GARD:0011910|UMLS:C4275075|UMLS:CN205977|SCTID:715633008|ICD10:E34.8	ordo_disease|gard_rare	atypical progeroid syndrome	http://purl.obolibrary.org/obo/MONDO_0019321	A heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.	UMLS:CN205977|UMLS:C4275075|SNOMEDCT:715633008|ORPHA:79474
HGNC:17035	EXOSC8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17035		
HGNC:19661	TNNI3K	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19661		
MONDO:0022960	dermatocardioskeletal syndrome boronne type	biolink:Disease	mondo	GARD:0001812	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022960		
MONDO:0007328	choroidal osteoma, bilateral	biolink:Disease	mondo	MESH:C566124|UMLS:C1861558|OMIM:118865		choroidal osteoma, bilateral	http://purl.obolibrary.org/obo/MONDO_0007328		http://identifiers.org/omim/118865|MESH:C566124|UMLS:C1861558
HGNC:20653	SLC9A9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20653		
MONDO:0007329	cirrhosis, familial	biolink:Disease	mondo	SCTID:6183001|NCIT:C84411|OMIM:215600		cirrhosis, familial|endemic Tyrolean infantile cirrhosis|cryptogenic cirrhosis|cirrhosis, familial, with pulmonary hypertension|cirrhosis, cryptogenic|Sen syndrome|copper toxicosis, idiopathic|hereditary cirrhosis of liver|Indian childhood cirrhosis|copper-overload cirrhosis|cirrhosis, Noncryptogenic, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0007329	Cirrhosis in which no causative agent can be identified.	http://identifiers.org/omim/215600|NCIT:C84411|SNOMEDCT:6183001
MONDO:0009989	enhanced S-cone syndrome	biolink:Disease	mondo	GARD:0010781|OMIM:268100|ICD10:H35.5|UMLS:C1849394|MESH:C564835|Orphanet:53540|DOID:0090059|SCTID:232065000	ordo_disease	retinoschisis with early nyctalopia|enhanced S-cone syndrome|Favre hyaloideoretinal Degeneration|enhanced S-cone syndrome; ESCS|Goldmann-Favre syndrome|ESCS|retinoschisis with early hemeralopia	http://purl.obolibrary.org/obo/MONDO_0009989	Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis).	DOID:0090059|MESH:C564835|UMLS:C1849394|ORPHA:53540|SNOMEDCT:232065000|UMLS:C0339541|http://identifiers.org/omim/268100
MONDO:0022963	desmoplastic infantile astrocytoma	biolink:Disease	mondo	ONCOTREE:DIA|ICDO:9412/1|GARD:0009617|UMLS:C0457179|NCIT:C9476	gard_rare	DIA|Desmoplastic infantile astrocytoma|Desmoplastic astrocytoma of infancy	http://purl.obolibrary.org/obo/MONDO_0022963	A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population consisting mainly of neoplastic astrocytes. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)	NCIT:C9476|UMLS:C0457179
MONDO:0007326	paroxysmal nonkinesigenic dyskinesia 1	biolink:Disease	mondo	OMIM:118800|ICD10:G24.8|MedDRA:10065658|MedDRA:10065657|GARD:0008722|DOID:0090049|Orphanet:98810	ordo_disease	paroxysmal nonkinesigenic dyskinesia 1; PNKD1|paroxysmal nonkinesigenic dyskinesia 1|Paroxysomal nonkinesigenic dyskinesia|paroxysmal non-kinesigenic dyskinesia|paroxysmal dyskinesia caused by mutation in PNKD|choreoathetosis, nonkinesigenic|dystonia 8|mount-reback syndrome|PNKD paroxysmal dyskinesia|Paroxystic non-kinesigenic choreoathetosis|choreoathetosis, familial paroxysmal|PNKD1|DYT-MR-1|PxMD-PNKD|paroxysmal nonkinesigenic dyskinesia type 1|paroxysmal dystonic choreoathetosis	http://purl.obolibrary.org/obo/MONDO_0007326	Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia, characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation.	ORPHA:98810|DOID:0090049|http://identifiers.org/omim/118800|MESH:C537181|UMLS:C1869117|MEDDRA:10065657|MEDDRA:10065658
MONDO:0007327	chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase	biolink:Disease	mondo	OMIM:118830|UMLS:C1861560|Orphanet:411|DOID:0111419|MESH:C566126		chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase|hyperlipoproteinemia, type 1C	http://purl.obolibrary.org/obo/MONDO_0007327		DOID:0111419|http://identifiers.org/omim/118830|MESH:C566126|UMLS:C1861560|ORPHA:411
MONDO:0009988	retinoschisis of fovea	biolink:Disease	mondo	MESH:C538369|UMLS:C1849397|OMIM:268080|GARD:0009143	gard_rare	familial foveal retinoschisis|foveal retinoschisis|retinoschisis of fovea	http://purl.obolibrary.org/obo/MONDO_0009988		UMLS:C1849397|MESH:C538369|http://identifiers.org/omim/268080
MONDO:0009987	autosomal recessive pericentral pigmentary retinopathy	biolink:Disease	mondo	MESH:C564838|DOID:0110422|OMIM:268060|UMLS:C1849398|ICD10:H35.5		retinopathy, pericentral pigmentary, autosomal recessive|retinitis pigmentosa, pericentral	http://purl.obolibrary.org/obo/MONDO_0009987	A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy.	DOID:0110422|UMLS:C1849398|MESH:C564838|http://identifiers.org/omim/268060
MONDO:0044313	mental retardation, autosomal recessive 60	biolink:Disease	mondo	OMIM:617432		mental retardation, autosomal recessive 60; MRT60|MRT60|intellectual disability, autosomal recessive 60; MRT60	http://purl.obolibrary.org/obo/MONDO_0044313		http://identifiers.org/omim/617432
MONDO:0010976	KRT14-related epidermolysis bullosa simplex	biolink:Disease	mondo	Orphanet:89838|OMIM:601001|MESH:C563408|ICD10:Q81.0	ordo_disease	epidermolysis bullosa simplex, autosomal recessive 1|epidermolysis bullosa simplex, autosomal recessive K14|KRT14-related autosomal recessive epidermolysis bullosa simplex|EBS-AR KRT14|epidermolysis bullosa simplex, autosomal recessive type 1|EBS, autosomal recessive K14|KRT14-related autosomal recessive EBS|EBSB1|epidermolysis bullosa simplex, autosomal recessive 1; EBSB1	http://purl.obolibrary.org/obo/MONDO_0010976	KRT14-related epidermolysis bullosa simplex (EBS-AR KRT14) is a basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering.	http://identifiers.org/omim/601001|ORPHA:89838|MESH:C563408
MONDO:0020302	Angelman syndrome due to maternal 15q11q13 deletion	biolink:Disease	mondo	UMLS:CN207116|Orphanet:98794|ICD10:Q93.5	ordo_etiological_subtype	Angelman syndrome due to maternal monosomy 15q11q13	http://purl.obolibrary.org/obo/MONDO_0020302		ORPHA:98794|UMLS:CN207116
MONDO:0007324	obsolete chorea	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0007324		
MONDO:0010975	arrhythmogenic right ventricular dysplasia 2	biolink:Disease	mondo	OMIM:600996|UMLS:C1832931|DOID:0110071|ICD10:I42.8|MESH:C563409		arrhythmogenic right ventricular cardiomyopathy 2|ARVC2|arrhythmogenic right ventricular dysplasia type 2|arrhythmogenic right ventricular dysplasia, familial, type 2|familial arrhythmogenic right ventricular dysplasia 2|ARVD2|RYR2 familial isolated arrhythmogenic right ventricular dysplasia|arrhythmogenic right ventricular dysplasia, familial, 2; ARVD2|arrhythmogenic right ventricular dysplasia, familial, 2|familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in RYR2	http://purl.obolibrary.org/obo/MONDO_0010975	Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the RYR2 gene.	UMLS:C1832931|http://identifiers.org/omim/600996|DOID:0110071|MESH:C563409
MONDO:0044312	immunoskeletal dysplasia with neurodevelopmental abnormalities	biolink:Disease	mondo	UMLS:C4479452|OMIM:617425		IMMUNOSKELETAL dysplasia with neurodevelopmental abnormalities; ISDNA|ISDNA	http://purl.obolibrary.org/obo/MONDO_0044312		http://identifiers.org/omim/617425|UMLS:C4479452
MONDO:0007325	choreoathetosis, familial inverted	biolink:Disease	mondo	OMIM:118750|MESH:C566127|UMLS:C1861569		infantile choreoathetosis of Fisher|choreoathetosis, familial inverted	http://purl.obolibrary.org/obo/MONDO_0007325		http://identifiers.org/omim/118750|MESH:C566127|UMLS:C1861569
MONDO:0009986	retinopathy, pigmentary, and mental retardation	biolink:Disease	mondo	MESH:C538367|OMIM:268050|Orphanet:3084|GARD:0004688		retinal pigmentary degeneration, microcephaly, and severe intellectual disability|Mirhosseini-Holmes-Walton syndrome|retinopathy pigmentary mental retardation|retinopathy, pigmentary, and intellectual disability|retinal pigmentary degeneration, microcephaly, and severe mental retardation|retinopathy pigmentary intellectual disability|retinopathy, pigmentary, and mental retardation	http://purl.obolibrary.org/obo/MONDO_0009986		ORPHA:3084|MESH:C538367|http://identifiers.org/omim/268050
MONDO:0020301	Prader-Willi syndrome due to paternal 15q11q13 deletion	biolink:Disease	mondo	UMLS:CN207115|ICD10:Q87.1|Orphanet:98793	ordo_etiological_subtype		http://purl.obolibrary.org/obo/MONDO_0020301		ORPHA:98793|UMLS:CN207115
MONDO:0007322	chondrodysplasia punctata, tibial-metacarpal type	biolink:Disease	mondo	ICD10:Q77.3|Orphanet:79346|SCTID:254083002|MESH:C562961|ICD9:756.59|OMIM:118651	ordo_malformation_syndrome	chondrodysplasia punctata, Mt type|chondrodysplasia punctata, tibia-metacarpal type	http://purl.obolibrary.org/obo/MONDO_0007322		ORPHA:79346|http://identifiers.org/omim/118651|SNOMEDCT:254083002|MESH:C562961
MONDO:0010978	portal vein, cavernous transformation of	biolink:Disease	mondo	MESH:C563407|UMLS:C1832917|OMIM:601004		portal vein, cavernous transformation of	http://purl.obolibrary.org/obo/MONDO_0010978		http://identifiers.org/omim/601004|UMLS:C1832917|MESH:C563407
MONDO:0044315	craniosynostosis 7	biolink:Disease	mondo	OMIM:617439|UMLS:C4479496		craniosynostosis 7; CRS7|CRS7|craniosynostosis 7, digenic|Crs7, digenic	http://purl.obolibrary.org/obo/MONDO_0044315	Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {1:Fitzpatrick, 2013}).nnFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM:123100).	UMLS:C4479496|http://identifiers.org/omim/617439
MONDO:0020300	autosomal dominant nocturnal frontal lobe epilepsy	biolink:Disease	mondo	MESH:C579932|Orphanet:98784|GARD:0011918|DOID:0060681|SCTID:698021005|ICD9:345.80|UMLS:C3696898	ordo_disease	ADNFLE|ENFL	http://purl.obolibrary.org/obo/MONDO_0020300	Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief.	UMLS:C3696898|SNOMEDCT:698021005|ORPHA:98784|MESH:C579932|DOID:0060681
MONDO:0009985	retinohepatoendocrinologic syndrome	biolink:Disease	mondo	GARD:0004685|MESH:C564839|UMLS:C1849399|Orphanet:3087|ICD10:Q87.8|OMIM:268040|SCTID:724000006	gard_rare|ordo_malformation_syndrome	retinohepatoendocrinologic syndrome|rhe syndrome	http://purl.obolibrary.org/obo/MONDO_0009985	Retinohepatoendocrinologic syndrome is characterized by total colorblindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family.	UMLS:C1849399|MESH:C564839|SNOMEDCT:724000006|ORPHA:3087|http://identifiers.org/omim/268040
MONDO:0044314	retinitis pigmentosa 78	biolink:Disease	mondo	UMLS:C4479481|OMIM:617433		retinitis pigmentosa 78; RP78|RP78	http://purl.obolibrary.org/obo/MONDO_0044314		UMLS:C4479481|http://identifiers.org/omim/617433
MONDO:0010977	Brody myopathy	biolink:Disease	mondo	MESH:C536607|GARD:0009158|UMLS:C1832918|OMIM:601003|ICD10:G71.8|ICD9:359.89|SCTID:703530005|DOID:0050692|Orphanet:53347	gard_rare|ordo_disease	Brody disease|sarcoplasmic reticulum -Ca2+ATPase deficiency|Brody myopathy	http://purl.obolibrary.org/obo/MONDO_0010977	Brody myopathy is a hereditary condition that affects the skeletal muscles (muscles used for movement). Symptoms typically begin in childhood and are characterized by muscle cramping and stiffening (myopathy) after exercise or other strenuous activity. These symptoms can worsen in cold temperatures and are usually painless, however, some individuals may have mild discomfort. Some cases of Brody myopathy are caused by mutations in the ATP2A1 gene. The cause of Brody myopathy for individuals not found to have an ATP2A1 gene mutation remains unknown. Brody myopathy is usually inherited in an autosomal recessive manner with a few reported cases of autosomal dominant inheritance. While there is no one treatment for Brody myopathy, certain muscle relaxants, such as dantrolene and blood pressure medications called calcium channel blockers, such as verapamil may be useful. Some researchers suggest that individuals found to have an ATP2A1 gene mutation have a slightly different disorder in which symptoms appear at an earlier age. They use the disease term 'Brody disease' for individuals with an identifiedmutation versus 'Brody syndrome' for those that do not. More research may help clarify whether these are two different disorders or a variation of the same disorder.	http://identifiers.org/omim/601003|SNOMEDCT:703530005|UMLS:C1832918|DOID:0050692|MESH:C536607|ORPHA:53347
MONDO:0007323	Chondronectin	biolink:Disease	mondo	OMIM:118670		Chondronectin	http://purl.obolibrary.org/obo/MONDO_0007323		http://identifiers.org/omim/118670
MONDO:0009984	late-adult onset retinitis pigmentosa	biolink:Disease	mondo	DOID:0110421|MESH:C564840|OMIM:268025|ICD10:H35.5|UMLS:C1849400		retinitis pigmentosa, 'Senile'|retinitis pigmentosa, late-ADULT onset|senile retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0009984	A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life.	UMLS:C1849400|MESH:C564840|http://identifiers.org/omim/268025|DOID:0110421
MONDO:0007320	chondrocalcinosis due to apatite crystal deposition	biolink:Disease	mondo	MESH:C535939|GARD:0010139|UMLS:C1861580|OMIM:118610	gard_rare	familial apatite disease|chondrocalcinosis due to apatite crystal deposition	http://purl.obolibrary.org/obo/MONDO_0007320		http://identifiers.org/omim/118610|MESH:C535939|UMLS:C1861580
MONDO:0009983	retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome	biolink:Disease	mondo	GARD:0004683|ICD10:Q87.8|Orphanet:3085|MESH:C564841|OMIM:268020|UMLS:C1849401	ordo_malformation_syndrome	retinitis pigmentosa, deafness, mental retardation, and hypogonadism|insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and mental retardation|insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and intellectual disability|retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome|retinitis pigmentosa, deafness, intellectual disability, and hypogonadism|retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome|retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome	http://purl.obolibrary.org/obo/MONDO_0009983	Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.	UMLS:C1849401|MESH:C564841|ORPHA:3085|http://identifiers.org/omim/268020
MONDO:0007321	autosomal dominant chondrodysplasia punctata	biolink:Disease	mondo	GARD:0001298|OMIM:118650|DOID:0060293|Orphanet:79344|ICD10:Q77.3|MESH:C563248	gard_rare|ordo_malformation_syndrome	chondrodysplasia punctata, Sheffield type|chondrodysplasia punctata Sheffield type|chondrodysplasia punctata, autosomal dominant|chondrodysplasia punctata due to warfarin Teratogenicity|chondrodysplasia punctata due to vitamin K deficiency	http://purl.obolibrary.org/obo/MONDO_0007321	Autosomal dominant form of chondrodysplasia punctata.	MESH:C563248|ORPHA:79344|DOID:0060293|http://identifiers.org/omim/118650
MONDO:0010979	Timothy syndrome	biolink:Disease	mondo	ICD10:G72.3|DOID:0060173|NCIT:C142894|Orphanet:65283|MESH:C536962|ICD10:I45.8|GARD:0009294|OMIM:601005|UMLS:C1832916	ordo_clinical_subtype|gard_rare	Timothy syndrome|long QT syndrome 8|TS|long QT syndrome-syndactyly syndrome|long QT syndrome type 8|LQT8|TIMOTHY syndrome; TS|long QT syndrome with syndactyly	http://purl.obolibrary.org/obo/MONDO_0010979	Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.	NCIT:C142894|http://identifiers.org/omim/601005|UMLS:C1832916|MESH:C536962|DOID:0060173|ORPHA:65283
MONDO:0009982	retinitis pigmentosa inversa with deafness	biolink:Disease	mondo	UMLS:C1849405|MESH:C564842|OMIM:268010		retinitis pigmentosa inversa with deafness	http://purl.obolibrary.org/obo/MONDO_0009982		MESH:C564842|UMLS:C1849405|http://identifiers.org/omim/268010
MONDO:0044311	brachycephaly, trichomegaly, and developmental delay	biolink:Disease	mondo	UMLS:C4479431|OMIM:617412		brachycephaly, trichomegaly, and developmental delay; BTDD|BTDD|Macinnes syndrome	http://purl.obolibrary.org/obo/MONDO_0044311	BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by {2:Paolini et al., 2017}).	http://identifiers.org/omim/617412|UMLS:C4479431
MONDO:0009981	obsolete retinitis pigmentosa type 1	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0009981		
MONDO:0009980	retinal telangiectasia and hypogammaglobulinemia	biolink:Disease	mondo	OMIM:267900|GARD:0002383|UMLS:C2930961|MESH:C535638		Frenkel Russe syndrome|retinal telangiectasia associated with hypogammaglobulinemia|retinal telangiectasia and hypogammaglobulinemia	http://purl.obolibrary.org/obo/MONDO_0009980		http://identifiers.org/omim/267900|UMLS:C2930961|MESH:C535638
MONDO:0044310	Diamond-Blackfan anemia 17	biolink:Disease	mondo	OMIM:617409|UMLS:C4479428		DBA17|Diamond-Blackfan anemia 17; DBA17	http://purl.obolibrary.org/obo/MONDO_0044310		http://identifiers.org/omim/617409|UMLS:C4479428
MONDO:0044309	Diamond-Blackfan anemia 16	biolink:Disease	mondo	OMIM:617408|UMLS:C4479424		DBA16|Diamond-Blackfan anemia 16; DBA16	http://purl.obolibrary.org/obo/MONDO_0044309		UMLS:C4479424|http://identifiers.org/omim/617408
MONDO:0010981	absent tibia-polydactyly-arachnoid cyst syndrome	biolink:Disease	mondo	OMIM:601027|GARD:0005210|Orphanet:3328|MESH:C563403|SCTID:733068001	ordo_malformation_syndrome|gard_rare	tibia, absence or hypoplasia of, with polydactyly, RETROCEREBELLAR arachnoid cyst, and other anomalies|Holmes-Collins syndrome|absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies|tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies|Holmes Collins syndrome|tibia absent polydactyly arachnoid cyst	http://purl.obolibrary.org/obo/MONDO_0010981	Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia.	MESH:C536918|MESH:C563403|UMLS:C2931368|SNOMEDCT:733068001|http://identifiers.org/omim/601027|ORPHA:3328
MONDO:0010980	midline malformations, multiple, with limb abnormalities and hypopituitarism	biolink:Disease	mondo	OMIM:601016|Orphanet:1678|MESH:C536177|UMLS:C1832874		midline malformations, multiple, with limb abnormalities and hypopituitarism|Dincsoy-Salih-Patel syndrome|Dincsoy syndrome	http://purl.obolibrary.org/obo/MONDO_0010980		UMLS:C1832874|ORPHA:1678|MESH:C536177|http://identifiers.org/omim/601016
GO:0044848	biological phase	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0044848	A distinct period or stage in a biological process or cycle.	
MONDO:0010983	dystonia 9	biolink:Disease	mondo	MESH:C563401|UMLS:C1832855|OMIM:601042|DOID:0090044|ICD10:G24.8|Orphanet:53583|SCTID:715564000	ordo_disease	choreoathetosis/spasticity, episodic|dystonia type 9|Cse choreoathetosis, paroxysmal, with episodic ataxia|dystonia 9|dystonia 9; DYT9|choreoathetosis, kinesigenic, with episodic ataxia and spasticity|episodic choreoathetosis/spasticity|paroxysmal dystonic choreathetosis with episodic ataxia and spasticity|DYT9	http://purl.obolibrary.org/obo/MONDO_0010983	A dystonia characterized by autosomal dominant inheritance of paroxysmal choreoathetosis and progressive spastic paraplegia, episodes are often precipitated by alcohol, fatigue, or emotional stress that has material basis in heterozygous mutation in the SLC2A1 gene on chromosome 1p34.	UMLS:C1832855|DOID:0090044|MESH:C563401|ORPHA:53583|SNOMEDCT:715564000|http://identifiers.org/omim/601042
MONDO:0044306	neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	biolink:Disease	mondo	Orphanet:500545|OMIM:617393|UMLS:C4479333	ordo_disease	NECFM|severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract|neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination; NECFM	http://purl.obolibrary.org/obo/MONDO_0044306	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by {1:Schoch et al., 2017}).	UMLS:C4479333|ORPHA:500545|http://identifiers.org/omim/617393
MONDO:0019317	follicular atrophoderma-basal cell carcinoma	biolink:Disease	mondo	Orphanet:79459|UMLS:CN205972|ICD10:L98.8	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0019317		ORPHA:79459|UMLS:CN205972
HGNC:17009	TRIOBP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17009		
MONDO:0019316	maculopapular cutaneous mastocytosis	biolink:Disease	mondo	Orphanet:79457|NCIT:C3433|UMLS:C0042111|ICDO:9740/1|ICD9:708.8|ICD10:Q82.2|SCTID:78745000|MedDRA:10046752|DOID:12309|GARD:0013079	ordo_disease	telangiectasia macularis eruptive perstans|telangiectatic cutaneous mastocytosis|urticaria pigmentosa/maculopapular cutaneous mastocytosis|UP/MPCM|Paucicellular mastocytosis|urticaria pigmentosa	http://purl.obolibrary.org/obo/MONDO_0019316	Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin.	DOID:12309|ORPHA:79457|MEDDRA:10046752|NCIT:C3433|MESH:D014582|UMLS:C0042111|SNOMEDCT:78745000
MONDO:0010982	ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin	biolink:Disease	mondo	MESH:C563402|OMIM:601039|UMLS:C1832858|GARD:0002957		ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin|ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin	http://purl.obolibrary.org/obo/MONDO_0010982		UMLS:C1832858|MESH:C563402|http://identifiers.org/omim/601039
MONDO:0044305	ectodermal dysplasia 13, hair/tooth type	biolink:Disease	mondo	OMIM:617392|UMLS:C4479322|DOID:0111650		ECTD13|ectodermal dysplasia 13, hair/tooth type; ECTD13	http://purl.obolibrary.org/obo/MONDO_0044305		UMLS:C4479322|DOID:0111650|http://identifiers.org/omim/617392
MONDO:0019319	verrucous nevus	biolink:Disease	mondo	SCTID:398723007|UMLS:C0362030|Orphanet:79467|ICD10:Q82.5|NCIT:C4674	ordo_clinical_subtype	verrucous Epidermal Nevus	http://purl.obolibrary.org/obo/MONDO_0019319	A benign wart-like, pigmented skin lesion appearing on various parts of the body at birth or early in childhood, usually in linear groupings.	ORPHA:79467|SNOMEDCT:398723007|NCIT:C4674|UMLS:C0362030
MONDO:0010985	FAME1	biolink:Disease	mondo	DOID:0111690|MESH:C563399|OMIM:601068|UMLS:C1832841		benign adult familial myoclonic epilepsy 1|epilepsy, familial ADULT myoclonic, 1|cortical myoclonic tremor with epilepsy, familial, 1|epilepsy, familial ADULT myoclonic, 1; FAME1|FAME1	http://purl.obolibrary.org/obo/MONDO_0010985		UMLS:C1832841|DOID:0111690|MESH:C563399|http://identifiers.org/omim/601068
MONDO:0044308	bardet-biedl syndrome 21	biolink:Disease	mondo	OMIM:617406|UMLS:C4319932		Bardet-Biedl syndrome 21; BBS21|BBS21	http://purl.obolibrary.org/obo/MONDO_0044308	BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900).	UMLS:C4319932|http://identifiers.org/omim/617406
MONDO:0010984	Usher syndrome type 1D	biolink:Disease	mondo	ICD10:H35.5|GARD:0005438|OMIM:601067|DOID:0110831	gard_rare	Usher syndrome type 1D|Usher syndrome, type 1D|Ush1D/F, Cdh23/Pcdh15, digenic|USHER syndrome, type ID; USH1D|USH1D|Usher syndrome, type Id/F, Cdh23/Pcdh15, digenic|Usher syndrome type ID|USHER syndrome, type ID	http://purl.obolibrary.org/obo/MONDO_0010984	A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding cadherin-23 (CDH23) on chromosome 10q22. It is inherited in an autosomal recessive manner.	DOID:0110831|http://identifiers.org/omim/601067
MONDO:0019318	inflammatory linear verrucous epidermal nevus	biolink:Disease	mondo	GARD:0005484|Orphanet:79466|UMLS:C0473574|ICD10:Q82.5|SCTID:399995006	ordo_clinical_subtype	linear verrucose epidermal nevus|ILVEN|inflammatory linear verrucous epidermal naevus	http://purl.obolibrary.org/obo/MONDO_0019318		SNOMEDCT:399995006|ORPHA:79466|UMLS:C0473574
MONDO:0019313	hereditary lymphedema	biolink:Disease	mondo	ICD10:Q82.0|GARD:0007220|DOID:0050580|SCTID:254199006|ICD9:757.0|OMIMPS:153100|Orphanet:79452|SCTID:399889006	ordo_disease	hereditary lymphedema 1|Nonne-Milroy lymphedema|lymphedema, hereditary|hereditary lymphedema|Milroy's disease|Nonne’s syndrome|Nonne-Milroy disease|congenital primary lymphedema|hereditary lymphedema type I|congenital hereditary lymphedema|Nonne-Milroy syndrome|early onset lymphedema	http://purl.obolibrary.org/obo/MONDO_0019313	Milroy disease is a frequent form of primary lymphedema characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period.	ORPHA:79452|UMLS:C1704423|SNOMEDCT:254199006|SNOMEDCT:399889006|DOID:0050580
MONDO:0019312	Hermansky-Pudlak syndrome	biolink:Disease	mondo	MedDRA:10071775|Orphanet:79430|MESH:D022861|ICD10:E70.3|DOID:3753|GARD:0006643|NCIT:C37261|ICD10:E70.331|OMIMPS:203300|ICD9:270.2|SCTID:9311003	ordo_disease	Hermansky Pudlak syndrome|HPS|HPS (Hermansky Pudlak syndrome)	http://purl.obolibrary.org/obo/MONDO_0019312	Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity.	DOID:3753|ORPHA:79430|MESH:D022861|NCIT:C37261|MEDDRA:10071775|SNOMEDCT:9311003
MONDO:0019315	diffuse cutaneous mastocytosis	biolink:Disease	mondo	Orphanet:79456|UMLS:C0024901|MedDRA:10012812|ICD10:Q82.2|ICDO:9740/1|GARD:0012686|DOID:3665|NCIT:C3218	ordo_disease	DCM|diffuse cutaneous maculopapulous mastocytosis|diffuse cutaneous mastocytosis	http://purl.obolibrary.org/obo/MONDO_0019315	Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM) and one with infiltrations (Pseudoxanthomatous DCM).	DOID:3665|ORPHA:79456|UMLS:C0024901|NCIT:C3218|MEDDRA:10012812
MONDO:0019314	cutaneous mastocytoma	biolink:Disease	mondo	Orphanet:79455|ICD10:Q82.2|GARD:0012687	ordo_disease	cutaneous local mastocytoma|multiple mastocytoma|solitary mastocytoma	http://purl.obolibrary.org/obo/MONDO_0019314	Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin.	ORPHA:79455|UMLS:C0343115|MESH:D054705
MONDO:0019311	woolly hair nevus	biolink:Disease	mondo	Orphanet:79414|UMLS:C0343114|SCTID:239124001|ICD10:D23.4	ordo_disease	wooly hair nevus	http://purl.obolibrary.org/obo/MONDO_0019311	Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi.	SNOMEDCT:239124001|UMLS:C0343114|ORPHA:79414
MONDO:0019310	recessive dystrophic epidermolysis bullosa inversa	biolink:Disease	mondo	Orphanet:79409|ICD10:Q81.2|UMLS:CN205951	ordo_disease	inverse RDEB|RDEB-I|inverse recessive dystrophic epidermolysis bullosa|dystrophic epidermolysis bullosa inversa	http://purl.obolibrary.org/obo/MONDO_0019310	Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area.	UMLS:CN205951|ORPHA:79409
HGNC:20661	SLC25A26	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20661		
MONDO:0007339	blepharo-cheilo-odontic syndrome	biolink:Disease	mondo	SCTID:717911008|MESH:C536188|ICD10:Q87.8|UMLS:C1861536|OMIMPS:119580|GARD:0002071|Orphanet:1997|DOID:0080344	ordo_malformation_syndrome|gard_rare|prototype_pattern	ectropion inferior cleft lip and or palate|blepharocheilodontic syndrome 1; BCDS1|BCDS|ectropion inferior-cleft lip and or palate syndrome|lagophthalmia-cleft lip and palate syndrome|ectropion inferior-cleft lip and/or palate syndrome|blepharo-cheilo-dontic syndrome|blepharocheilodontic syndrome|Elschnig syndrome|Elsching syndrome|BCD syndrome|clefting, ectropion, and conical teeth|blepharocheilodontic syndrome; BCDS|lagophthalmia with bilateral cleft lip and palate|clefting-ectropion-conical teeth syndrome|BCDS1|ectropion, inferior, with cleft lip and/or palate|blepharocheilodontic syndrome 1|blepharo-cheilo-odontic syndrome	http://purl.obolibrary.org/obo/MONDO_0007339	Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.	http://identifiers.org/omim/119580|SNOMEDCT:717911008|DOID:0080344|UMLS:C1861536|MESH:C536188|ORPHA:1997
HGNC:20665	SCN3B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20665		
MONDO:0007337	cleft palate-lateral synechia syndrome	biolink:Disease	mondo	ICD10:Q87.8|ICD9:759.89|GARD:0001391|SCTID:403772000|DOID:0080313|UMLS:C0795898|MESH:C563047|Orphanet:2016|OMIM:119550	ordo_malformation_syndrome|gard_rare	cleft palate lateral synechia syndrome|syngnathia|Cpls syndrome|CPLS syndrome|cleft palate-lateral synechia syndrome	http://purl.obolibrary.org/obo/MONDO_0007337	Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner.	MESH:C563047|ORPHA:2016|SNOMEDCT:403772000|DOID:0080313|UMLS:C0795898|http://identifiers.org/omim/119550
MONDO:0022953	delta-1-pyrroline-5-carboxylate dehydrogenase deficiency	biolink:Disease	mondo	GARD:0001798	gard_rare	1-pyrroline-5-carboxylate dehydrogenase activity disease|disorder of 1-pyrroline-5-carboxylate dehydrogenase activity|disorder of 1-pyrroline-5-carboxylate dehydrogenase activity	http://purl.obolibrary.org/obo/MONDO_0022953	A disease that has its basis in the disruption of 1-pyrroline-5-carboxylate dehydrogenase activity.	
MONDO:0007338	cleft soft palate	biolink:Disease	mondo	OMIM:119570|DOID:0110214|SCTID:253997002|MESH:C562950|ICD10:Q35.3|Orphanet:99772	ordo_morphological_anomaly	cleft velum palatinum|soft cleft palate|cleft velum|cleft soft palate	http://purl.obolibrary.org/obo/MONDO_0007338	Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate.	DOID:0110214|http://identifiers.org/omim/119570|MESH:C562950|SNOMEDCT:253997002|ORPHA:99772
MONDO:0009999	autosomal recessive Robinow syndrome	biolink:Disease	mondo	OMIM:268310|MESH:C535863|DOID:0060764|Orphanet:1507|UMLS:C1849334|ICD10:Q87.1	ordo_clinical_subtype	costovertebral segmentation defect with mesomelia, formerly|costovertebral segmentation defect with mesomelia|Robinow syndrome, autosomal recessive; RRS|Covesdem syndrome, formerly|Robinow syndrome, autosomal recessive|Covesdem syndrome|RRS|COVESDEM syndrome|Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals|costovertebral segmentation defect-mesomelia syndrome|Robinow syndrome, autosomal recessive, with Brachy-syn-polydactyly	http://purl.obolibrary.org/obo/MONDO_0009999	Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.	UMLS:C1849334|MESH:C535863|DOID:0060764|ORPHA:1507|http://identifiers.org/omim/268310
MONDO:0044324	Al Kaissi syndrome	biolink:Disease	mondo	OMIM:617694|UMLS:CN502749		Growth retardation, spine malformation, dysmorphic facies, and developmental delay|AL KAISSI syndrome; ALKAS|ALKAS	http://purl.obolibrary.org/obo/MONDO_0044324	Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by {1:Windpassinger et al., 2017}).	UMLS:CN502749|http://identifiers.org/omim/617694
MONDO:0009998	Richieri Costa-Pereira syndrome	biolink:Disease	mondo	OMIM:268305|GARD:0004718|MESH:C535677|Orphanet:3102|SCTID:723998001|ICD10:Q87.8|UMLS:C1849348	gard_rare|ordo_malformation_syndrome	short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome|short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome|ROBIN sequence with cleft mandible and limb anomalies|Richieri-Costa-Pereira syndrome|Richieri-Costa and Pereira form of acrofacial dysostosis|short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot|Richieri Costa Pereira syndrome	http://purl.obolibrary.org/obo/MONDO_0009998	Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.	UMLS:C1849348|ORPHA:3102|SNOMEDCT:723998001|http://identifiers.org/omim/268305|MESH:C535677
MONDO:0010965	autosomal recessive nonsyndromic deafness 6	biolink:Disease	mondo	MESH:C563418|UMLS:C1832992|ICD10:H90.3|OMIM:600971|DOID:0110512	clingen	autosomal recessive nonsyndromic deafness type 6|deafness, autosomal recessive 6|autosomal recessive deafness 6|DFNB6|deafness, autosomal recessive type 6|autosomal recessive nonsyndromic deafness caused by mutation in TMIE|deafness, autosomal recessive 6; DFNB6|TMIE autosomal recessive nonsyndromic deafness|neurosensory nonsyndromic recessive deafness 6	http://purl.obolibrary.org/obo/MONDO_0010965	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMIE gene.	UMLS:C1832992|http://identifiers.org/omim/600971|DOID:0110512|MESH:C563418
MONDO:0007335	orofacial cleft 1	biolink:Disease	mondo	MESH:C566121|OMIM:119530|UMLS:C1861537|NCIT:C124838|DOID:0080395		OFC1|cleft Lip/palate, nonsyndromic|orofacial cleft 1; OFC1|cleft lip with or without cleft palate, nonsyndromic, 1|orofacial cleft, nonsyndromic|orofacial cleft 1	http://purl.obolibrary.org/obo/MONDO_0007335	Cleft lip with or without cleft palate mapped to chromosome 6p24.	NCIT:C124838|MESH:C566121|UMLS:C1861537|DOID:0080395|http://identifiers.org/omim/119530
GO:0044853	plasma membrane raft	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0044853	A membrane raft that is part of the plasma membrane.	
MONDO:0009997	Roberts syndrome	biolink:Disease	mondo	ICD10:Q73.8|OMIM:268300|Orphanet:3103|MESH:C535687|SCTID:48718006|NCIT:C126326|GARD:0007387|DOID:5325	ordo_malformation_syndrome	RBS|pseudothalidomide syndrome|SC pseudothalidomide syndrome|Roberts syndrome/SC phocomelia|SC phocomelia|SC phocomelia syndrome (mild variant of Roberts syndrome)|long bone deficiencies associated with cleft LIP-palate|Roberts syndrome|Roberts tetraphocomelia syndrome|ROBERTS syndrome; RBS|Roberts-SC phocomelia syndrome|Tetraphocomelia-cleft palate syndrome|Appelt-Gerken-Lenz syndrome|long bone deficiencies associated with cleft Lip-palate	http://purl.obolibrary.org/obo/MONDO_0009997	Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.	ORPHA:3103|UMLS:C0392475|SNOMEDCT:48718006|DOID:5325|http://identifiers.org/omim/268300|MESH:C535687|NCIT:C126326
MONDO:0044323	Rahman syndrome	biolink:Disease	mondo	OMIM:617537|UMLS:C4479637		Rahman syndrome; RMNS|RMNS	http://purl.obolibrary.org/obo/MONDO_0044323	Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by {1:Tatton-Brown et al., 2017}).	http://identifiers.org/omim/617537|UMLS:C4479637
MONDO:0007336	isolated cleft palate	biolink:Disease	mondo	ICD10:Q35.7|ICD10:Q35.3|ICD10:Q35.5|DOID:0110213|ICD10:Q35.1|OMIM:119540|UMLS:CN234898|GARD:0001896|ICD10:Q35.9	gard_rare	nonsyndromic cleft palate|cleft palate|cleft palate, isolated; CPI|dominant cleft palate|cleft palate, isolated|CPI	http://purl.obolibrary.org/obo/MONDO_0007336	A cleft palate that is not part of a larger syndrome.	UMLS:CN234898|DOID:0110213|http://identifiers.org/omim/119540
MONDO:0010964	epiphyseal dysplasia, multiple, 3	biolink:Disease	mondo	OMIM:600969|DOID:0070304|GARD:0009792|MESH:C535503|UMLS:C1832998	gard_rare	EDM3|COL9A3 multiple epiphyseal dysplasia (disease)|epiphyseal dysplasia, multiple, 3|epiphyseal dysplasia multiple 3|epiphyseal dysplasia, multiple, 3; EDM3|epiphyseal dysplasia, multiple, type 3|epiphyseal dysplasia, multiple, 3, with myopathy|multiple epiphyseal dysplasia 3|multiple epiphyseal dysplasia (disease) caused by mutation in COL9A3	http://purl.obolibrary.org/obo/MONDO_0010964	Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A3 gene.	DOID:0070304|http://identifiers.org/omim/600969|UMLS:C1832998|MESH:C535503
MONDO:0044326	developmental delay and seizures with or without movement abnormalities	biolink:Disease	mondo	OMIM:617836|DOID:0080473|UMLS:CN769090		developmental delay and seizures with or without movement abnormalities; DEDSM|DEDSM	http://purl.obolibrary.org/obo/MONDO_0044326	DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by {1:Hamdan et al., 2017}).	DOID:0080473|http://identifiers.org/omim/617836|UMLS:CN769090
MONDO:0009996	rhizomelic syndrome, Urbach type	biolink:Disease	mondo	ICD10:Q87.1|Orphanet:3098|MESH:C537611|OMIM:268250|GARD:0004705|UMLS:C1849382	ordo_malformation_syndrome	rhizomelic dysplasia, familial|rhizomelic syndrome|familial rhizomelic dysplasia	http://purl.obolibrary.org/obo/MONDO_0009996	Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies.	UMLS:C1849382|ORPHA:3098|MESH:C537611|http://identifiers.org/omim/268250
MONDO:0007333	van der Woude syndrome 1	biolink:Disease	mondo	OMIM:119300		lip-pit syndrome|van der Woude syndrome 1|Vdws|cleft lip and/or palate with mucous cysts of Lower lip|VWS1|IRF6 van der Woude syndrome|van der Woude syndrome caused by mutation in IRF6|Van Der Woude syndrome type 1|VAN DER Woude syndrome 1; VWS1	http://purl.obolibrary.org/obo/MONDO_0007333	Any van der Woude syndrome in which the cause of the disease is a mutation in the IRF6 gene.	http://identifiers.org/omim/119300
MONDO:0010967	autosomal recessive nonsyndromic deafness 7	biolink:Disease	mondo	DOID:0110520|UMLS:C1832978|MESH:C563417|ICD10:H90.3|OMIM:600974		autosomal recessive deafness 7|deafness, autosomal recessive 11|deafness, autosomal recessive 7|autosomal recessive nonsyndromic deafness type 7|DFNB7|autosomal recessive nonsyndromic deafness caused by mutation in TMC1|deafness, autosomal recessive type 7|TMC1 autosomal recessive nonsyndromic deafness|DFNB11|deafness, autosomal recessive 7; DFNB7	http://purl.obolibrary.org/obo/MONDO_0010967	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene.	http://identifiers.org/omim/600974|UMLS:C1832978|DOID:0110520|MESH:C563417
GO:0044851	hair cycle phase	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0044851	The cyclical periods of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair; one of the collection or mass of filaments growing from the skin of an animal, and forming a covering for a part of the head or for any part or the whole of the body.	
MONDO:0009995	obsolete rheumatic fever-related antigen	biolink:Disease	mondo	OMIM:268240		rheumatic fever-related antigen|rheumatic fever, acute, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0009995		http://identifiers.org/omim/268240
MONDO:0007334	autosomal dominant popliteal pterygium syndrome	biolink:Disease	mondo	SCTID:718222000|Orphanet:1300|ICD10:Q87.2|GARD:0003242|OMIM:119500|UMLS:CN199177	ordo_malformation_syndrome	PPS|cleft Lip/palate, paramedian mucous cysts of the Lower Lip, popliteal pterygium, digital and genital anomalies|popliteal pterygium syndrome|popliteal pterygium syndrome, autosomal dominant|faciogenitopopliteal syndrome|popliteal pterygium syndrome; PPS|popliteal web syndrome|cleft lip/palate paramedian mucous cysts of the lower lip popliteal pterygium digital and genital anomalies|facio-genito-popliteal syndrome	http://purl.obolibrary.org/obo/MONDO_0007334	Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.	SNOMEDCT:718222000|ORPHA:1300|http://identifiers.org/omim/119500|UMLS:CN199177
MONDO:0010966	achondrogenesis type IB	biolink:Disease	mondo	Orphanet:93298|ICD10:Q77.0|OMIM:600972|GARD:0000460|DOID:0080055	ordo_clinical_subtype	achondrogenesis, type IB; ACG1B|achondrogenesis, Fraccaro type|Fraccaro achondrogenesis|achondrogenesis, Parenti-Fraccaro type|achondrogenesis, type IB|ACG1B|achondrogenesis, type 1B|achondrogenesis type 1B|achondrogenesis Fraccaro type	http://purl.obolibrary.org/obo/MONDO_0010966	Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.	ORPHA:93298|DOID:0080055|UMLS:C0265274|http://identifiers.org/omim/600972|MESH:C536016
MONDO:0044325	Fanconi anemia, complementation group W	biolink:Disease	mondo	UMLS:CN653907|OMIM:617784		FANCW|Fanconi anemia, complementation group W; FANCW	http://purl.obolibrary.org/obo/MONDO_0044325		http://identifiers.org/omim/617784|UMLS:CN653907
MONDO:0009994	alveolar rhabdomyosarcoma (disease)	biolink:Disease	mondo	ICD10:C49.9|ICDO:8920/3|ICD9:171.9|EFO:0000248|ONCOTREE:ARMS|SCTID:404053004|OMIM:268220|NCIT:C3749|DOID:4051|UMLS:C0206655|MESH:D018232|MedDRA:10065867|GARD:0004701|HP:0006779|Orphanet:99756	ordo_clinical_subtype	rhabdomyosarcoma type 2|alveolar childhood rhabdomyosarcoma|rhabdomyosarcoma 2|rhabdomyosarcoma, alveolar|monomorphous round cell rhabdomyosarcoma|arms|alveolar rhabdomyosarcoma (morphologic abnormality)|pediatric alveolar rhabdomyosarcoma|alveolar rhabdomyosarcoma|RMS2|rhabdomyosarcoma 2; RMS2|rhabdomyosarcoma alveolar	http://purl.obolibrary.org/obo/MONDO_0009994	A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities.	SNOMEDCT:404053004|NCIT:C3749|DOID:4051|MEDDRA:10065867|ORPHA:99756|http://identifiers.org/omim/268220|UMLS:C0206655|MESH:D018232
MONDO:0010969	cone-rod dystrophy 5	biolink:Disease	mondo	MESH:C563415|DOID:0111010|UMLS:C1832976|GARD:0010655|OMIM:600977	gard_rare	CORD5|PITPNM3 cone-rod dystrophy|cone-rod dystrophy 5; CORD5|cone-rod dystrophy type 5|cone-rod dystrophy caused by mutation in PITPNM3|cone-rod dystrophy 5	http://purl.obolibrary.org/obo/MONDO_0010969	Any cone-rod dystrophy in which the cause of the disease is a mutation in the PITPNM3 gene.	MESH:C563415|http://identifiers.org/omim/600977|DOID:0111010|UMLS:C1832976
MONDO:0007331	cleft chin	biolink:Disease	mondo	OMIM:119000		Chin dimple|cleft chin	http://purl.obolibrary.org/obo/MONDO_0007331		http://identifiers.org/omim/119000
MONDO:0044320	retinitis pigmentosa 79	biolink:Disease	mondo	OMIM:617460|UMLS:C4479526		retinitis pigmentosa 79; RP79|RP79	http://purl.obolibrary.org/obo/MONDO_0044320		http://identifiers.org/omim/617460|UMLS:C4479526
MONDO:0010968	GLC3B	biolink:Disease	mondo	UMLS:C1832977|GARD:0002490|MESH:C536824|OMIM:600975	gard_rare	glaucoma primary congenita type 3B|Glc3, type B|primary congenital glaucoma|GLC3 type B|glaucoma, primary congenital, type B|glaucoma 3, primary infantile, B|GLC3B|primary congenital glaucoma type 3B|glaucoma 3 primary infantile B|glaucoma 3, primary infantile, B; GLC3B	http://purl.obolibrary.org/obo/MONDO_0010968		http://identifiers.org/omim/600975|UMLS:C1832977|MESH:C536824
MONDO:0007332	SHFLD1	biolink:Disease	mondo	OMIM:119100|MESH:C536425		tibial aplasia with split-hand/split-foot deformity|split-hand/foot malformation with long bone deficiency 1|SHFLD1|ectrodactyly with aplasia of long bones|tibial aplasia with split-hand-split-foot deformity|split-hand/foot malformation with long bone deficiency|split-hand/foot malformation with long bone deficiency 1; SHFLD1|split-hand-foot malformation with long bone deficiency|SHFLD|cleft hand absent tibia|aplasia of tibia with ectrodactyly|cleft hand and absent tibia	http://purl.obolibrary.org/obo/MONDO_0007332		http://identifiers.org/omim/119100|MESH:C536425
MONDO:0009993	embryonal rhabdomyosarcoma (disease)	biolink:Disease	mondo	HP:0006743|ICD10:C49.9|ICDO:8910/3|ICD9:171.9|GARD:0004702|EFO:0000437|UMLS:C0206656|ONCOTREE:ERMS|Orphanet:99757|MedDRA:10065868|OMIM:268210|NCIT:C8971|DOID:3246|SCTID:404051002	ordo_clinical_subtype	embryonal rhabdomyosarcoma|rhabdomyosarcoma embryonal|rhabdomyosarcoma, embryonal, type 1|rhabdomyosarcoma chromosomal region|ERMS|rhabdomyosarcoma, embryonal, 1; RMSE1|rhabdomyosarcoma 1|rhabdomyosarcoma, embryonal, 1|spindle cell rhabdomyosarcomas (type of ERMS)|RMSE1|botryoid rhabdomyosarcoma (type of ERMS)	http://purl.obolibrary.org/obo/MONDO_0009993	A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis.	SNOMEDCT:404051002|ORPHA:99757|MEDDRA:10065868|http://identifiers.org/omim/268210|DOID:3246|UMLS:C0206656|NCIT:C8971|MESH:D018233
MONDO:0009992	myoglobinuria, acute recurrent, autosomal recessive	biolink:Disease	mondo	MESH:C564832|OMIM:268200|UMLS:C1849386		myoglobinuria, acute recurrent, autosomal recessive|myoglobinuria, familial paroxysmal paralytic|rhabdomyolysis, acute recurrent	http://purl.obolibrary.org/obo/MONDO_0009992		http://identifiers.org/omim/268200|MESH:C564832|UMLS:C1849386
MONDO:0044322	intellectual developmental disorder with neuropsychiatric features	biolink:Disease	mondo	OMIM:617532|UMLS:C4479636		intellectual developmental disorder with neuropsychiatric features; IDDNPF|IDDNPF	http://purl.obolibrary.org/obo/MONDO_0044322	Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by {2:Srour et al., 2017}).	http://identifiers.org/omim/617532|UMLS:C4479636
MONDO:0007330	congenital pseudoarthrosis of clavicle	biolink:Disease	mondo	Orphanet:66630|MESH:C562548|ICD10:Q74.0|SCTID:70794004|OMIM:118980	ordo_disease	congenital pseudoarthrosis of the clavicle|congenital pseudarthrosis of the clavicle|clavicle, pseudarthrosis of, congenital	http://purl.obolibrary.org/obo/MONDO_0007330	Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle.	http://identifiers.org/omim/118980|MESH:C562548|SNOMEDCT:70794004|UMLS:C0265565|ORPHA:66630
MONDO:0044321	structural heart defects and renal anomalies syndrome	biolink:Disease	mondo	OMIM:617478|UMLS:C4479549		structural heart defects and renal anomalies syndrome; SHDRA|SHDRA	http://purl.obolibrary.org/obo/MONDO_0044321		http://identifiers.org/omim/617478|UMLS:C4479549
MONDO:0009991	obsolete Rh deficiency syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0009991		
MONDO:0009990	Revesz syndrome	biolink:Disease	mondo	Orphanet:3088|OMIM:268130|NCIT:C152064|MESH:C538371|DOID:0070026|GARD:0004695|UMLS:C1327916|SCTID:723512008	gard_rare|ordo_malformation_syndrome	Revesz syndrome|dyskeratosis congenita with bilateral exudative retinopathy|DKCA5|dyskeratosis congenita, autosomal dominant 5|retinopathy-anemia-central nervous system anomalies syndrome|exudative retinopathy with bone marrow failure|Revesz-DeBuse syndrome	http://purl.obolibrary.org/obo/MONDO_0009990	Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.	DOID:0070026|ORPHA:3088|NCIT:C152064|MESH:C538371|http://identifiers.org/omim/268130|UMLS:C1327916|SNOMEDCT:723512008
MONDO:0019309	late-onset junctional epidermolysis bullosa	biolink:Disease	mondo	Orphanet:79406|SCTID:719432000|UMLS:C4304724|ICD10:Q81.8|UMLS:CN205949|GARD:0012921	gard_rare|ordo_disease	JEB-lo|EB progressive	http://purl.obolibrary.org/obo/MONDO_0019309	Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB) occurring in childhood or young adulthood.	UMLS:C4304724|ORPHA:79406|UMLS:CN205949|SNOMEDCT:719432000
MONDO:0010970	cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	biolink:Disease	mondo	MESH:C563414|OMIM:600987|UMLS:C1832950|DOID:0111697		cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies|cleft palate, CARDIAC defects, and mental retardation; CPCMR|CPCMR|cleft palate, Cardiac defects, and mental retardation|cleft palate, CARDIAC defects, and intellectual disability; CPCMR|cleft palate, Cardiac defects, and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0010970		http://identifiers.org/omim/600987|UMLS:C1832950|DOID:0111697|MESH:C563414
MONDO:0010972	hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome	biolink:Disease	mondo	OMIM:600991|Orphanet:2180|SCTID:721229003|GARD:0005518|MESH:C536461|ICD10:Q87.8	ordo_malformation_syndrome	Waaler-Aarskog syndrome|hydrocephalus, Sprengel anomaly, and costovertebral dysplasia|Ferlini-Ragno-Calzolari syndrome|hydrocephalus, costovertebral dysplasia, and Sprengel anomaly|hydrocephalus, skeletal anomalies, and mental disturbance	http://purl.obolibrary.org/obo/MONDO_0010972	This syndrome is characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present.	SNOMEDCT:721229003|ORPHA:2180|http://identifiers.org/omim/600991|MESH:C536461|UMLS:C2931197
MONDO:0019306	congenital non-bullous ichthyosiform erythroderma	biolink:Disease	mondo	Orphanet:79394|DOID:1699|HP:0007431|SCTID:205550003|ICD10:Q80.2	ordo_disease	lamellar desquamation of the newborn|erythrodermic ichthyosis|congenital ichthyosiform erythroderma|lamellar ichthyosis|nonbullous congenital ichthyosiform erythroderma|congenital ichthyosiform erythroderma (disease)|non-bullous congenital ichthyosiform erythroderma|ichthyosiform erythroderma|congenital non bullous ichthyosiform erythroderma|CIE|alligator skin	http://purl.obolibrary.org/obo/MONDO_0019306	Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.	ORPHA:79394|DOID:1699|SNOMEDCT:205550003|UMLS:C0079154
MONDO:0044317	premature ovarian failure 13	biolink:Disease	mondo	OMIM:617442|UMLS:C4479510		POF13|premature ovarian failure 13; POF13	http://purl.obolibrary.org/obo/MONDO_0044317		UMLS:C4479510|http://identifiers.org/omim/617442
MONDO:0010971	infundibulopelvic stenosis-multicystic kidney syndrome	biolink:Disease	mondo	UMLS:C1832949|MESH:C535528|SCTID:725905005|GARD:0003005|Orphanet:1849|OMIM:600989	ordo_malformation_syndrome	infundibulopelvic dysgenesis	http://purl.obolibrary.org/obo/MONDO_0010971	Infundibulopelvic stenosis-multicystic kidney syndrome is a rare, genetic renal malformation syndrome characterized by variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging.	http://identifiers.org/omim/600989|UMLS:C1832949|ORPHA:1849|MESH:C535528|SNOMEDCT:725905005
MONDO:0019305	immune deficiency with skin involvement	biolink:Disease	mondo	Orphanet:79391	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019305		ORPHA:79391
MONDO:0044316	thrombocytopenia, anemia, and myelofibrosis	biolink:Disease	mondo	UMLS:C4479504|OMIM:617441		thrombocytopenia, anemia, and myelofibrosis; THAMY|THAMY	http://purl.obolibrary.org/obo/MONDO_0044316		UMLS:C4479504|http://identifiers.org/omim/617441
HGNC:17019	PRICKLE1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17019		
MONDO:0019308	junctional epidermolysis bullosa inversa	biolink:Disease	mondo	Orphanet:79405|UMLS:C2673609|GARD:0002143|UMLS:C2673610|ICD10:Q81.8	ordo_disease	JEB-I|EBJ-I|inverse JEB	http://purl.obolibrary.org/obo/MONDO_0019308	Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina.	ORPHA:79405|UMLS:C2673610|UMLS:C2673609
MONDO:0010974	nephrotic syndrome, type 2	biolink:Disease	mondo	GARD:0003946|DOID:0080379|OMIM:600995		nephrotic syndrome, type 2; NPHS2|NPHS2 nephrotic syndrome|nephrotic syndrome, type 2|SRN1|NPHS2|nephrotic syndrome caused by mutation in NPHS2|nephrotic syndrome, steroid-resistant, autosomal recessive|nephrotic syndrome, idiopathic, steroid-resistant	http://purl.obolibrary.org/obo/MONDO_0010974	Any nephrotic syndrome in which the cause of the disease is a mutation in the NPHS2 gene.	DOID:0080379|http://identifiers.org/omim/600995
MONDO:0044319	intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	biolink:Disease	mondo	Orphanet:505237|OMIM:617452|UMLS:C4479520	ordo_malformation_syndrome	intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies; IDDFSDA|IDDFSDA	http://purl.obolibrary.org/obo/MONDO_0044319	IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by {1:Santiago-Sim et al., 2017}).	UMLS:C4479520|http://identifiers.org/omim/617452|ORPHA:505237
MONDO:0010973	autosomal dominant nonsyndromic deafness 5	biolink:Disease	mondo	ICD10:H90.3|MESH:C563410|OMIM:600994|UMLS:C1832932|DOID:0110575		autosomal dominant nonsyndromic deafness caused by mutation in GSDME|DFNA5|autosomal dominant deafness 5|autosomal dominant nonsyndromic deafness type 5|GSDME autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 5|deafness, autosomal dominant type 5|deafness, autosomal dominant 5; DFNA5	http://purl.obolibrary.org/obo/MONDO_0010973	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GSDME gene.	UMLS:C1832932|http://identifiers.org/omim/600994|DOID:0110575|MESH:C563410
MONDO:0019307	generalized junctional epidermolysis bullosa non-Herlitz type	biolink:Disease	mondo	SCTID:724225008|GARD:0012922|Orphanet:79402|DOID:0060738|ICD10:Q81.8	ordo_clinical_subtype	JEN-nH|GABEB|JEB, generalized intermediate|junctional epidermolysis bullosa non-Herlitz type|generalized atrophic benign epidermolysis bullosa|JEB-nH gen|generalized junctional epidermolysis bullosa, non-Herlitz type|junctional epidermolysis bullosa, generalized intermediate|junctional epidermolysis bullosa, Disentis type|junctional epidermolysis bullosa generalisata mitis	http://purl.obolibrary.org/obo/MONDO_0019307	Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement.	ORPHA:79402|SNOMEDCT:724225008|DOID:0060738
MONDO:0044318	intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	biolink:Disease	mondo	UMLS:C4479517|OMIM:617450		intellectual developmental disorder with gastrointestinal difficulties and high pain threshold; IDDGIP|IDDGIP	http://purl.obolibrary.org/obo/MONDO_0044318	IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by {1:Jansen et al., 2017}).	UMLS:C4479517|http://identifiers.org/omim/617450
MONDO:0019302	mucopolysaccharidosis with skin involvement	biolink:Disease	mondo	Orphanet:79388	ordo_group_of_disorders	MPS with skin involvement	http://purl.obolibrary.org/obo/MONDO_0019302		ORPHA:79388
MONDO:0019301	metabolic disease with skin involvement	biolink:Disease	mondo	Orphanet:79387|UMLS:CN205935	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019301		ORPHA:79387|UMLS:CN205935
MONDO:0019304	rare photodermatosis	biolink:Disease	mondo	Orphanet:79390|UMLS:C0920193	obsoletion_candidate|ordo_group_of_disorders	rare skin photosensitivity	http://purl.obolibrary.org/obo/MONDO_0019304		UMLS:C0920193|ORPHA:79390
MONDO:0022945	deafness peripheral neuropathy arterial disease	biolink:Disease	mondo	GARD:0001701	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022945		
MONDO:0019303	premature aging syndrome	biolink:Disease	mondo	Orphanet:79389|MedDRA:10063493|MESH:D019588	ordo_group_of_disorders	premature aging	http://purl.obolibrary.org/obo/MONDO_0019303	Changes in the organism associated with senescence, occurring at an accelerated rate.	MEDDRA:10063493|ORPHA:79389|MESH:D019588|UMLS:C0231341
MONDO:0022946	deafness progressive cataract autosomal dominant	biolink:Disease	mondo	GARD:0001702	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022946		
MONDO:0022948	deal barratt dillon syndrome	biolink:Disease	mondo	UMLS:C2931773|MESH:C538206		Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea	http://purl.obolibrary.org/obo/MONDO_0022948		UMLS:C2931773|MESH:C538206
MONDO:0019300	obsolete rare skin tumor or hamartoma	biolink:Disease	mondo	UMLS:CN205934|Orphanet:79386	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019300		ORPHA:79386|UMLS:CN205934
MONDO:0022949	defective apolipoprotein b-100	biolink:Disease	mondo	GARD:0001720	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022949		
MONDO:0019371	narcolepsy without cataplexy	biolink:Disease	mondo	ICD10:G47.4|EFO:0005855|ICD10:G47.419|Orphanet:83465|UMLS:C1456240|SCTID:91521000119104|ICD9:347.00|UMLS:CN206062	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019371	Narcolepsy without cataplexy is characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior.	UMLS:CN206062|ORPHA:83465|UMLS:C1456240|SNOMEDCT:91521000119104
MONDO:0020360	complete cryptophthalmia	biolink:Disease	mondo	Orphanet:98949|DOID:0111719|ICD10:Q11.2	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0020360		ORPHA:98949|DOID:0111719
MONDO:0019370	vulvovaginal gingival syndrome	biolink:Disease	mondo	UMLS:C3873472|Orphanet:83453|ICD10:L43.8|UMLS:CN206058|SCTID:707250009	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019370		UMLS:C3873472|UMLS:CN206058|ORPHA:83453|SNOMEDCT:707250009
MONDO:0019373	desmoplastic small round cell tumor	biolink:Disease	mondo	MedDRA:10064587|MedDRA:10064581|UMLS:C0281508|MESH:D058405|ONCOTREE:DSRCT|ICDO:8806/3|ICD10:C48.2|GARD:0006265|NCIT:C8300|Orphanet:83469|EFO:1000895|HGNC:12796	ordo_disease|gard_rare	Desmoplastic small round-cell tumor|DSRCT|Desmoplas. small round cell tumor|Desmoplastic small round cell tumor|desmoplastic small round cell tumor|Desmoplastic small round-cell neoplasm|Polyphenotypic small round cell tumor|desmoplastic small-round-cell tumor	http://purl.obolibrary.org/obo/MONDO_0019373	Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases.	MEDDRA:10064581|NCIT:C8300|UMLS:C0281508|ORPHA:83469|MESH:D058405
MONDO:0019372	solitary bone cyst	biolink:Disease	mondo	ICD9:733.21|COHD:72421|NCIT:C2904|ICD10:M85.4|MESH:D001845|SCTID:203467005|Orphanet:83468	ordo_disease	bone cyst|cyst of the bone|solitary cyst|unicameral bone cyst|simple bone cyst|cyst of bone	http://purl.obolibrary.org/obo/MONDO_0019372	A solitary bone cyst is a benign non-epithelial bone cavity that is asymptomatic and that is found most commonly in the second decade of life by chance. The long bones are most often affected, but cases involving the jaw bone have been reported.	MESH:D001845|ORPHA:83468|SNOMEDCT:203467005|NCIT:C2904
MONDO:0020368	Axenfeld anomaly	biolink:Disease	mondo	SCTID:204152008|ICD9:743.44|ICD10:Q15.0|MedDRA:10058653|Orphanet:98978	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0020368	Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced SchwalbeBs line and iris bands extending into the cornea. In contrast, RiegerBs anomaly includes characteristic iris and pupil anomalies.	ORPHA:98978|MEDDRA:10058653|SNOMEDCT:204152008|UMLS:C0266548
MONDO:0020367	juvenile open angle glaucoma	biolink:Disease	mondo	ICD9:365.14|UMLS:C2981140|SCTID:71111008|Orphanet:98977|MedDRA:10064032|COHD:433767|DOID:1068	ordo_disease	pediatric glaucoma (disease)|juvenile glaucoma|JOAG|glaucoma of childhood|childhood glaucoma (disease)|glaucoma (disease) of childhood|pediatric glaucoma (disease)	http://purl.obolibrary.org/obo/MONDO_0020367	Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment.	ORPHA:98977|DOID:1068|SNOMEDCT:71111008|MEDDRA:10064032|UMLS:C2981140
MONDO:0007388	congenitally short costocoracoid ligament	biolink:Disease	mondo	OMIM:122580|ICD10:Q68.8|Orphanet:2391|GARD:0001551|SCTID:725101002|MESH:C536448	ordo_malformation_syndrome|gard_rare	fixation of the scapula to the first rib by a congenitally short costocoracoid ligament|congenital shortness of the costocoracoid ligament|costocoracoid ligament, congenitally short|costocoracoid ligament congenitally short	http://purl.obolibrary.org/obo/MONDO_0007388	Congenital shortness of the costocoracoid ligament is a rare anomaly characterized by fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of the anterior clavicular contour.	ORPHA:2391|SNOMEDCT:725101002|MESH:C536448|http://identifiers.org/omim/122580|UMLS:C1852523
MONDO:0020366	congenital glaucoma	biolink:Disease	mondo	GARD:0002485|ICD10:Q15.0|SCTID:204113001|NCIT:C50648|Orphanet:98976	ordo_disease	Buphthalmus|buphthalmia|primary congenital glaucoma|buphthalmos	http://purl.obolibrary.org/obo/MONDO_0020366	Congenital glaucoma (CG) is a developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm.	NCIT:C50648|SNOMEDCT:204113001|ORPHA:98976
MONDO:0020365	congenital hereditary endothelial dystrophy type I	biolink:Disease	mondo	SCTID:416633008|ICD10:H18.5|Orphanet:98975	ordo_disease	CHED1|autosomal dominant congenital hereditary endothelial dystrophy|CHEDI|congenital hereditary endothelial dystrophy type 1|autosomal dominant CHED	http://purl.obolibrary.org/obo/MONDO_0020365	Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision.	http://identifiers.org/omim/121700|SNOMEDCT:416633008|UMLS:C1562689|ORPHA:98975
MONDO:0007389	spondylocostal dysostosis 5	biolink:Disease	mondo	UMLS:C4083048|GARD:0012806|OMIM:122600		spondylothoracic dysostosis|spondylocostal dysostosis type 5|spondylocostal dysplasia|polydysspondyly|spondylocostal dysostosis caused by mutation in TBX6|TBX6 spondylocostal dysostosis|spondylocostal dysostosis 5; SCDO5|scoliosis, congenital, with or without rib anomalies|SCDO5|spondylocostal dysostosis 5|costovertebral segmentation anomalies	http://purl.obolibrary.org/obo/MONDO_0007389	Any spondylocostal dysostosis in which the cause of the disease is a mutation in the TBX6 gene.	UMLS:C4083048|http://identifiers.org/omim/122600
MONDO:0007386	obsolete human coronavirus sensitivity	biolink:Disease	mondo	OMIM:122460		HCVS|human coronavirus sensitivity; HCVS|human coronavirus sensitivity|Coronavirus 229E susceptibility	http://purl.obolibrary.org/obo/MONDO_0007386		http://identifiers.org/omim/122460
MONDO:0020364	posterior polymorphous corneal dystrophy	biolink:Disease	mondo	UMLS:CN239252|Orphanet:98973|DOID:0060457|OMIMPS:122000|ICD10:H18.5	ordo_disease	corneal dystrophy, posterior polymorphous|Schlichting dystrophy|PPCD|hereditary polymorphus posterior corneal dystrophy|posterior polymorphous dystrophy	http://purl.obolibrary.org/obo/MONDO_0020364	Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.	DOID:0060457|UMLS:CN239252|ORPHA:98973
MONDO:0007387	Cornelia de Lange syndrome 1	biolink:Disease	mondo	OMIM:122470|ICD9:759.89|UMLS:CN029798|SCTID:40354009|DOID:0080505		Cdl|De Lange syndrome|CDLS1|Brachmann-De Lange syndrome|NIPBL Cornelia de Lange syndrome|Cornelia De Lange syndrome type 1|Cornelia DE Lange syndrome 1; CDLS1|typus Degenerativus Amstelodamensis|Cornelia de Lange syndrome 1|Cornelia de Lange syndrome caused by mutation in NIPBL	http://purl.obolibrary.org/obo/MONDO_0007387	Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene.	UMLS:CN029798|DOID:0080505|http://identifiers.org/omim/122470|SNOMEDCT:40354009
MONDO:0020363	honey-droplet corneal dystrophy	biolink:Disease	mondo	Orphanet:98958|ICD10:H18.5|UMLS:CN207218	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0020363		ORPHA:98958|UMLS:CN207218
MONDO:0007384	congenital trigeminal anesthesia	biolink:Disease	mondo	SCTID:763218005|ICD10:G50.8|GARD:0010034|Orphanet:231013|MESH:C536440|OMIM:122450|UMLS:C1852541	ordo_disease	trigeminal anesthesia, familial|corneal hypesthesia, familial|familial trigeminal anesthesia	http://purl.obolibrary.org/obo/MONDO_0007384	Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum).	MESH:C536440|http://identifiers.org/omim/122450|UMLS:C1852541|ORPHA:231013|SNOMEDCT:763218005
MONDO:0020362	inverse Marcus-Gunn phenomenon	biolink:Disease	mondo	UMLS:CN207213|ICD10:Q07.8|Orphanet:98951	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0020362	Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported.	ORPHA:98951|UMLS:CN207213
MONDO:0020361	partial cryptophthalmia	biolink:Disease	mondo	Orphanet:98950|ICD10:Q11.2|DOID:0111718	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0020361		ORPHA:98950|DOID:0111718
MONDO:0007385	idiopathic spontaneous coronary artery dissection	biolink:Disease	mondo	UMLS:C1852540|ICD10:I25.4|MESH:C565153|OMIM:122455|Orphanet:458718	ordo_disease	idiopathic SCAD|coronary artery dissection, spontaneous	http://purl.obolibrary.org/obo/MONDO_0007385		MESH:C565153|http://identifiers.org/omim/122455|ORPHA:458718|UMLS:C1852540
MONDO:0007382	Ramos-Arroyo syndrome	biolink:Disease	mondo	Orphanet:1051|GARD:0004636|MESH:C535286|OMIM:122430|UMLS:C2930866|ICD10:Q87.8	ordo_malformation_syndrome	Ramos-Arroyo syndrome|congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation|corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation|corneal anesthesia-deafness-intellectual disability syndrome|corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and intellectual disability|Ramos Arroyo Clark syndrome|congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0007382	Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature, and intellectual disability.	MESH:C535286|http://identifiers.org/omim/122430|UMLS:C2930866|ORPHA:1051
MONDO:0007383	Stern-Lubinsky-Durrie syndrome	biolink:Disease	mondo	ICD10:H18.5|MESH:C537488|Orphanet:3194|GARD:0001531|SCTID:723584003|OMIM:122440	ordo_malformation_syndrome	Stern Lubinsky Durrie syndrome|CORNEODERMATOOSSEOUS syndrome|corneal dystrophy, epithelial, with skin and skeletal changes|Cdo syndrome|corneo-dermato-osseous syndrome|corneal dystrophy epithelial and short stature	http://purl.obolibrary.org/obo/MONDO_0007383	Stern-Lubinsky-Durrie syndrome is characterised by corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems, and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait.	MESH:C537488|MESH:C536444|http://identifiers.org/omim/122440|SNOMEDCT:723584003|UMLS:C2931506|UMLS:C1852542|ORPHA:3194
MONDO:0007380	lattice corneal dystrophy type I	biolink:Disease	mondo	UMLS:C1690006|MESH:C537881|UMLS:CN207224|ICD10:H18.5|OMIM:122200|GARD:0009678|Orphanet:98964|SCTID:419197009	ordo_disease	Lcd1|lattice corneal dystrophy, type 1|corneal dystrophy, lattice type 1|lattice corneal dystrophy type 1|LCD|LCDI|classic lattice corneal dystrophy|Biber-Haab-Dimmer dystrophy|corneal dystrophy, lattice type I|CDL1|corneal dystrophy, lattice type I; Lcd1	http://purl.obolibrary.org/obo/MONDO_0007380	Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations.	MESH:C537881|UMLS:C1690006|ORPHA:98964|SNOMEDCT:419197009|UMLS:CN207224|http://identifiers.org/omim/122200|UMLS:C2931650
MONDO:0007381	epithelial recurrent erosion dystrophy	biolink:Disease	mondo	SCTID:715908008|MESH:C565155|ICD10:H18.5|OMIM:122400|UMLS:C1852551|DOID:0070337|Orphanet:293381	ordo_disease	recurrent hereditary corneal erosions|dystrophia Smolandiensis|dystrophia Helsinglandica|epithelial recurrent erosion dystrophy; ERED|epithelial recurrent erosion dystrophy|corneal erosions, recurring hereditary|ERED	http://purl.obolibrary.org/obo/MONDO_0007381	Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision.	MESH:C565155|http://identifiers.org/omim/122400|ORPHA:293381|UMLS:C1852551|DOID:0070337|SNOMEDCT:715908008
MONDO:0020359	congenital symblepharon	biolink:Disease	mondo	ICD10:Q11.2|DOID:0111720|Orphanet:98948	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0020359		ORPHA:98948|DOID:0111720
MONDO:0020358	coloboma of optic disc	biolink:Disease	mondo	COHD:437292|ICD10:Q14.2|GARD:0001438|Orphanet:98947	ordo_morphological_anomaly	coloboma of optic papilla	http://purl.obolibrary.org/obo/MONDO_0020358	Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isolated or may associate other ocular (e.g. retinal detachment, retinoschisis-like separation) or systemic anomalies (e.g. renal).	ORPHA:98947
MONDO:0019379	obsolete st. Louis encephalitis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019379		
MONDO:0019378	la Crosse encephalitis	biolink:Disease	mondo	DOID:0050118|ICD9:062.5|ICD10:A83.5|MedDRA:10014584|GARD:0010925|Orphanet:83483|UMLS:C0014053|SCTID:61094002|MESH:D004670|UMLS:C0276379	ordo_disease	Neuroinvasive California encephalitis virus infection|California encephalitis|Californian encephalitis|La Crosse virus caused infectious encephalitis|California virus encephalitis|La Crosse virus infectious encephalitis	http://purl.obolibrary.org/obo/MONDO_0019378	La Crosse encephalitis (CE) is an acute arboviral infection caused by the La Crosse bunyavirus transmitted by an infected mosquito, usually observed in infants, children or adolescents (6 months to 16 years), and characterized by the onset of flulike symptoms such as fever, chills, nausea, vomiting, headache, and abdominal pain, followed by the onset of encephalitis characterized by somnolence, obtundation, and even seizures, focal neurologic signs (asymmetrical reflexes or Babinski signs), paralysis or even coma. CE can leave sequelae such as residual epilepsy and neurocognitive deficits.	SNOMEDCT:61094002|DOID:0050118|UMLS:C0276379|ORPHA:83483|MEDDRA:10014584|MESH:D004670|UMLS:C0014053
HGNC:20626	CHD7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20626		
MONDO:0019375	megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	biolink:Disease	mondo	GARD:0010341|Orphanet:83473|SCTID:722036008|DC:0000669|OMIMPS:603387|ICD10:Q04.8	ordo_malformation_syndrome	megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome|MPPH syndrome|megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome|megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus	http://purl.obolibrary.org/obo/MONDO_0019375	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.	ORPHA:83473|SNOMEDCT:722036008
MONDO:0019374	CAMOS syndrome	biolink:Disease	mondo	GARD:0009977|ICD10:G11.1|SCTID:726031001|UMLS:C1847114|Orphanet:83472|UMLS:C4511633	ordo_malformation_syndrome	SCAR5|cerebellar ataxia with intellectual disability optic atrophy and skin abnormalities|cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome|spinocerebellar ataxia autosomal recessive 5|CAMOS|cerebellar ataxia with mental retardation optic atrophy and skin abnormalities	http://purl.obolibrary.org/obo/MONDO_0019374	CAMOS syndrome is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.	ORPHA:83472|http://identifiers.org/omim/606937|UMLS:C1847114|SNOMEDCT:726031001|UMLS:C4511633
MONDO:0019377	Mycoplasma encephalitis	biolink:Disease	mondo	ICD10:B96.0|Orphanet:83482	ordo_disease	Mycoplasma pneumoniae caused infectious encephalitis|Mycoplasma pneumoniae infectious encephalitis	http://purl.obolibrary.org/obo/MONDO_0019377	Mycoplasma encephalitis is a rare infectious encephalitis characterized by an acute onset of neurological signs and symptoms (e.g. altered consciousness, seizures, headaches, meningeal signs, behavioral changes) due to bacterial infection by Mycoplasma pneumoniae. Patients typically present unspecific signs and symptoms, such as fever, nausea, vomiting, fatigue, prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (e.g. pneumonia, bronchiolitis, pharyngitis).	ORPHA:83482
MONDO:0019376	West-Nile encephalitis	biolink:Disease	mondo	ICD10:A92.31|SCTID:392662004|DOID:2365|GARD:0009959|Orphanet:83476|EFO:0007545|ICD9:066.41|ICD10:A92.3	ordo_disease	West Nile virus caused infectious encephalitis|West-Nile fever|West Nile virus infectious encephalitis|West Nile fever with encephalitis|West Nile fever encephalitis|West Nile encephalitis	http://purl.obolibrary.org/obo/MONDO_0019376	An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis.	SNOMEDCT:392662004|ORPHA:83476|DOID:2365
MONDO:0019360	rickettsialpox	biolink:Disease	mondo	MedDRA:10039137|Orphanet:83312|SCTID:75096007|DOID:11103|ICD10:A79.1|ICD9:083.2|COHD:436035|UMLS:C0035597	ordo_disease	Rickettsia akari spotted fever|vesicular rickettsiosis	http://purl.obolibrary.org/obo/MONDO_0019360		ORPHA:83312|UMLS:C0035597|SNOMEDCT:75096007|DOID:11103|MEDDRA:10039137
MONDO:0019362	epidemic louse-borne typhus	biolink:Disease	mondo	Orphanet:83314|ICD10:A75.0|NCIT:C84689|MedDRA:10014979|DOID:0050480	ordo_disease	epidemic typhus|sylvatic typhus|epidemic louse-borne typhus|typhus|epidemic typhus fever	http://purl.obolibrary.org/obo/MONDO_0019362	A gram-negative bacterial infection caused by Rickettsia prowazekii. It is spread by lice infected with the bacteria. Signs and symptoms include sudden headache, generalized muscle pain, malaise, and macular skin lesions. The infection may affect the central nervous system causing encephalitis.	MESH:D014438|DOID:0050480|UMLS:C0041473|ORPHA:83314|MEDDRA:10014979|NCIT:C84689
MONDO:0019361	obsolete boutonneuse fever	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019361		
NCBITaxon:29461	Brucella suis	organism taxon	mondo	GC_ID:11		Brucella melitensis biovar Suis|Brucella melitensis bv. Suis	http://purl.obolibrary.org/obo/NCBITaxon_29461		
MONDO:0020357	coloboma of eyelid	biolink:Disease	mondo	UMLS:C0521573|ICD10:Q10.3|NCIT:C98878|Orphanet:98946|SCTID:95202004	ordo_morphological_anomaly	coloboma of the eyelid	http://purl.obolibrary.org/obo/MONDO_0020357	A congenital abnormality in which a part of the upper or lower eyelid tissue is missing.	ORPHA:98946|SNOMEDCT:95202004|NCIT:C98878|UMLS:C0521573
MONDO:0020356	coloboma of iris (disease)	biolink:Disease	mondo	GARD:0001434|HP:0000612|NCIT:C98879|SCTID:9446007|MedDRA:10052642|ICD10:Q13.0|Orphanet:98944	ordo_morphological_anomaly	coloboma of the iris|coloboma of iris	http://purl.obolibrary.org/obo/MONDO_0020356	A congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris.	ORPHA:98944|NCIT:C98879|SNOMEDCT:9446007|MEDDRA:10052642
MONDO:0020355	coloboma of eye lens	biolink:Disease	mondo	GARD:0001433|ICD10:Q12.2|Orphanet:98943	ordo_morphological_anomaly|gard_rare		http://purl.obolibrary.org/obo/MONDO_0020355		ORPHA:98943|UMLS:C0344516
MONDO:0007399	craniosynostosis 1	biolink:Disease	mondo	SCTID:57219006|OMIM:123100|UMLS:CN029978		craniosynostosis 1; CRS1|craniosynostosis type 1|craniostenosis|CRS|craniosynostosis 1|CRS1	http://purl.obolibrary.org/obo/MONDO_0007399		UMLS:CN029978|SNOMEDCT:57219006|http://identifiers.org/omim/123100
MONDO:0020354	coloboma of choroid and retina	biolink:Disease	mondo	Orphanet:98942|GARD:0001432|SCTID:39302008|ICD10:Q14.8	ordo_morphological_anomaly	choroidal coloboma|retinal coloboma|retinochoroidal coloboma	http://purl.obolibrary.org/obo/MONDO_0020354	Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated.	ORPHA:98942|SNOMEDCT:39302008
MONDO:0020353	von Hippel anomaly	biolink:Disease	mondo	Orphanet:98941|ICD10:Q13.4	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0020353		ORPHA:98941
MONDO:0007397	craniometaphyseal dysplasia, autosomal dominant	biolink:Disease	mondo	OMIM:123000|MESH:C565145|UMLS:C1852502|GARD:0001581		CMDD|craniometaphyseal dysplasia, Jackson type|craniometaphyseal dysplasia Jackson type|craniometaphyseal dysplasia, autosomal dominant; CMDD|craniometaphyseal dysplasia, autosomal dominant|CMD|CMDJ	http://purl.obolibrary.org/obo/MONDO_0007397		MESH:C565145|http://identifiers.org/omim/123000|UMLS:C1852502
MONDO:0007398	craniorhiny	biolink:Disease	mondo	OMIM:123050|Orphanet:157832|MESH:C565144|UMLS:C1852501|ICD10:Q30.8	ordo_malformation_syndrome	craniorhiny	http://purl.obolibrary.org/obo/MONDO_0007398		http://identifiers.org/omim/123050|MESH:C565144|ORPHA:157832|UMLS:C1852501
MONDO:0020352	multiple system atrophy, parkinsonian type	biolink:Disease	mondo	UMLS:CN207200|ICD10:G23.2|Orphanet:98933	ordo_clinical_subtype	MSA-p|MSA, parkinsonian type	http://purl.obolibrary.org/obo/MONDO_0020352	Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability).	UMLS:CN207200|ORPHA:98933
MONDO:0007395	craniofacial-deafness-hand syndrome	biolink:Disease	mondo	Orphanet:1529|MESH:C536453|SCTID:702362004|DOID:0111336|ICD10:Q87.0|ICD9:759.89|GARD:0001571|OMIM:122880	gard_rare|ordo_malformation_syndrome	Sommer-Young-Wee-Frye syndrome|craniofacial deafness hand syndrome|features of flat facial profile, hypertelorism, hypoplastic nose with slitlike nares, and a sensorineural hearing loss|craniofacial-deafness-hand syndrome; CDHS|craniofacial-deafness-hand syndrome|CDHS	http://purl.obolibrary.org/obo/MONDO_0007395	Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome that can be distinguished from the latter by its imaging findings and distinct facial features.	ORPHA:1529|DOID:0111336|MESH:C536453|http://identifiers.org/omim/122880|UMLS:C1852510|SNOMEDCT:702362004
MONDO:0020351	Blake pouch cyst	biolink:Disease	mondo	ICD10:Q03.1|Orphanet:98922	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0020351	Blake pouch cyst is a non-syndromic, usually benign, cystic malformation of the posterior fossa characterized by a midline outpouching of the superior medullary velum into the cisterna magna that results from failure of the rudimental fourth ventricular tela choroidea to regress during embryogenesis. Patients can be asymptomatic or present in childhood or adulthood with clinical manifestations of hydrocephalus, such as headache, hypotonia, vertigo, syncope, vomiting, blurred or double vision, nystagmus, papilledema, and delayed gait development.	ORPHA:98922
MONDO:0020350	obsolete Miller-Fisher syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0020350		
MONDO:0007396	dysostosis, Stanescu type	biolink:Disease	mondo	Orphanet:1798|OMIM:122900|ICD10:Q78.8|GARD:0002016|MESH:C562974|SCTID:254124008|UMLS:C0432263	ordo_malformation_syndrome	craniofacial dysostosis with diaphyseal hyperplasia|craniofacial dysostosis-diaphyseal hyperplasia syndrome|Stanescu osteosclerosis|osteosclerosis, Stanescu type|autosomal dominant osteosclerosis, Stanescu type|dysostosis Stanescu type	http://purl.obolibrary.org/obo/MONDO_0007396	Stanescu type dysostosis is a rare form of osteosclerosis.	SNOMEDCT:254124008|ORPHA:1798|UMLS:C0432263|http://identifiers.org/omim/122900|MESH:C562974
MONDO:0007393	cranioacrofacial syndrome	biolink:Disease	mondo	MESH:C565147|Orphanet:1339|UMLS:C1852512|OMIM:122850		Cranioacrofacial syndrome	http://purl.obolibrary.org/obo/MONDO_0007393		MESH:C565147|http://identifiers.org/omim/122850|UMLS:C1852512|ORPHA:1339
MONDO:0007394	obsolete craniodiaphyseal dysplasia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0007394		
MONDO:0007391	coxa vara (disease)	biolink:Disease	mondo	EFO:1001298|HP:0002812|GARD:0008750|MESH:D060905|OMIM:122750		coxa vara, congenital|coxa vara	http://purl.obolibrary.org/obo/MONDO_0007391	Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental.	http://identifiers.org/omim/122750|MESH:D060905
MONDO:0007392	coxoauricular syndrome	biolink:Disease	mondo	ICD10:Q87.1|UMLS:C1852513|OMIM:122780|SCTID:732248005|GARD:0001558|Orphanet:1508|MESH:C565148	gard_rare|ordo_malformation_syndrome	coxoauricular syndrome	http://purl.obolibrary.org/obo/MONDO_0007392	Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981.	http://identifiers.org/omim/122780|UMLS:C1852513|SNOMEDCT:732248005|MESH:C565148|ORPHA:1508
MONDO:0020349	acute motor axonal neuropathy	biolink:Disease	mondo	SCTID:715770009|NCIT:C116929|ICD10:G61.0|UMLS:C3890941|Orphanet:98918|UMLS:CN207196	ordo_disease	AMAN|acute pure motor Guillain-Barré syndrome|acute pure motor Guillain-BarrC) syndrome|acute pure motor GBS	http://purl.obolibrary.org/obo/MONDO_0020349	Acute motor axonal neuropathy (AMAN) is a pure motor axonal form of Guillain-BarrC) syndrome (GBS).	ORPHA:98918|UMLS:CN207196|NCIT:C116929|SNOMEDCT:715770009|UMLS:C3890941
MONDO:0007390	coumarin resistance	biolink:Disease	mondo	SCTID:726543008|OMIM:122700|GARD:0012639|GARD:0012721|UMLS:CN078029|UMLS:C0750384		coumarin, poor metabolism of|coumarin sensitivity|warfarin resistance|coumarin resistance|warfarin sensitivity	http://purl.obolibrary.org/obo/MONDO_0007390		UMLS:C0750384|UMLS:CN078029|http://identifiers.org/omim/122700|SNOMEDCT:726543008
MONDO:0020348	acute motor and sensory axonal neuropathy	biolink:Disease	mondo	ICD10:G61.0|NCIT:C116927|SCTID:716722005|Orphanet:98917|UMLS:CN207195	ordo_disease	acute motor-sensory axonal GBS|AMSAN|acute motor-sensory axonal Guillain-BarrC) syndrome|acute motor-sensory axonal neuropathy|acute motor-sensory axonal Guillain-Barré syndrome	http://purl.obolibrary.org/obo/MONDO_0020348	Acute motor-sensory axonal neuropathy (AMSAN) is a motor-sensory, axonal form of Guillain-BarrC) syndrome (GBS).	UMLS:CN207195|NCIT:C116927|ORPHA:98917|SNOMEDCT:716722005
MONDO:0020347	acute inflammatory demyelinating polyradiculoneuropathy	biolink:Disease	mondo	ICD10:G61.0|NCIT:C116926|Orphanet:98916|UMLS:CN207194	ordo_disease	acute inflammatory polyneuropathy|acute inflammatory demyelinating polyradiculopathy|GBS, acute inflammatory demyelinating polyradiculoneuropathic form|AIDP|Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form|acute idiopathic demyelinating polyneuropathy|Guillain-BarrC) syndrome, acute inflammatory demyelinating polyradiculoneuropathic form	http://purl.obolibrary.org/obo/MONDO_0020347	Acute inflammatory demyelinating polyradiculoneuropathy (AIDP) is an inflammatory neuropathy belonging to the clinical spectrum of Guillain-BarrC) syndrome (GBS).	ORPHA:98916|UMLS:CN207194|NCIT:C116926
GO:0044877	protein-containing complex binding	biolink:OntologyClass	mondo			protein complex binding|macromolecular complex binding	http://purl.obolibrary.org/obo/GO_0044877	Interacting selectively and non-covalently with a macromolecular complex.	
MONDO:0019368	florid cemento-osseous dysplasia	biolink:Disease	mondo	SCTID:715634002|ICDO:9275/0|ICD10:D16.5|UMLS:C0555197|ICD10:D16.4|Orphanet:83451|GARD:0010173|MESH:C537063|NCIT:C8381	gard_rare|ordo_disease	focal cemento-osseous dysplasia|florid osseous dysplasia|Gigantiform cementoma	http://purl.obolibrary.org/obo/MONDO_0019368	Florid cemento-osseous dysplasia (FCOD) is a rare fibro-osseous lesion in the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Radiologically, it is characterized by multiple dense lobulated bone lesions, often symmetrically located in various regions of the jaw.	UMLS:C0555197|MESH:C537063|NCIT:C8381|SNOMEDCT:715634002|ORPHA:83451
MONDO:0019367	regional odontodysplasia	biolink:Disease	mondo	MESH:D018126|ICD10:K00.4|Orphanet:83450|SCTID:66063001	ordo_disease	ghost teeth	http://purl.obolibrary.org/obo/MONDO_0019367	Regional odontodysplasia (ROD) is a localized developmental anomaly of the dental tissues.	MESH:D018126|ORPHA:83450|SNOMEDCT:66063001
MONDO:0019369	complex regional pain syndrome	biolink:Disease	mondo	MedDRA:10064332|Orphanet:83452|GARD:0004647|DOID:3223|ICD10:M89.0|ICD10:G56.4|UMLS:C0458219|SCTID:128200000|MESH:D020918	ordo_disease|gard_rare	reflex sympathetic dystrophy|CRPS|Complex regional pain syndromes	http://purl.obolibrary.org/obo/MONDO_0019369	Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb.	MESH:D020918|MEDDRA:10064332|SNOMEDCT:128200000|UMLS:C0458219|DOID:3223|ORPHA:83452
MONDO:0019364	pseudotyphus of California	biolink:Disease	mondo	Orphanet:83316|SCTID:764104003|ICD10:A79.8	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019364	Pseudotyphus of California is a rare, flea-borne Rickettsial disease caused by a Rickettsia felis infection. Patients can be asymptomatic or can present with unspecific symptoms (such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, ocasionally, eschar. lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain. Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss, and signs of meningitis) and pulmonary compromise.	ORPHA:83316|SNOMEDCT:764104003
MONDO:0019363	obsolete murine typhus	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019363		
MONDO:0019366	free sialic acid storage disease	biolink:Disease	mondo	UMLS:C2931872|UMLS:CN206051|GARD:0010870|MedDRA:10067531|ICD10:E77.8|Orphanet:834|MESH:C538523|MedDRA:10067529	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019366	Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD).	MESH:C538523|UMLS:CN206051|ORPHA:834|UMLS:C2931872|MEDDRA:10067529|MEDDRA:10067531
MONDO:0019365	scrub typhus	biolink:Disease	mondo	EFO:0007480|ICD10:A75.3|ICD9:081.2|MedDRA:10039766|MESH:D012612|SCTID:271425001|DOID:13371|UMLS:C0036472|Orphanet:83317	ordo_disease	Kedani fever|chigger-borne typhus|chigger-borne rickettsiosis|tsutsugamushi|tropical typhus|tsutsugamushi fever|Mite-borne rickettsiosis|Japanese river fever|scrub (mite-borne) typhus|scrub mite-borne typhus|typhus fever due to Rickettsia tsutsugamushi|Mite-borne typhus|tsutsugamushi disease	http://purl.obolibrary.org/obo/MONDO_0019365	Scrub typhus is a rare dust mite-borne infectious disease caused by the Orientia tsutsugamushi bacterium and characterized clinically by an eruptive fever which is potentially serious.	DOID:13371|MESH:D012612|UMLS:C0036472|ORPHA:83317|SNOMEDCT:271425001|MEDDRA:10039766
MONDO:0019351	isolated spina bifida	biolink:Disease	mondo	ICD10:Q05.1|ICD10:Q05.0|GARD:0007673|Orphanet:823|ICD10:Q05.9|ICD10:Q05.8|MedDRA:10041524|ICD10:Q05.7|ICD10:Q05.6|ICD10:Q05.5|ICD10:Q05.4|ICD10:Q05.3|ICD10:Q05.2	ordo_group_of_disorders	isolated spina bifida (disease)|cleft spine|open spine|nonsyndromic spina bifida (disease)	http://purl.obolibrary.org/obo/MONDO_0019351	A spina bifida (disease) that is not part of a larger syndrome.	MEDDRA:10041524|ORPHA:823|UMLS:C0080178
MONDO:0019350	hereditary spherocytosis	biolink:Disease	mondo	SCTID:55995005|GARD:0006639|MESH:D013103|NCIT:C97074|Orphanet:822|ICD9:282.0|ICD10:D58.0|DOID:12971|COHD:24909|UMLS:C0037889|MedDRA:10019904|UMLS:CN206031	ordo_disease|gard_rare	Minkowski Chauffard syndrome|spherocytic anemia|congenital spherocytosis|congenital spherocytic hemolytic anemia|Minkowski-Chauffard disease	http://purl.obolibrary.org/obo/MONDO_0019350	Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.	MESH:D013103|MESH:C536356|MEDDRA:10019904|ORPHA:822|UMLS:CN206031|UMLS:C0037889|UMLS:C0221409|NCIT:C97074|SNOMEDCT:55995005|DOID:12971
GO:0030279	negative regulation of ossification	biolink:OntologyClass	mondo			negative regulation of bone biosynthesis|downregulation of ossification|negative regulation of bone formation|down regulation of ossification|inhibition of ossification|down-regulation of ossification	http://purl.obolibrary.org/obo/GO_0030279	Any process that stops, prevents, or reduces the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance.	
MONDO:0007368	familial benign copper deficiency	biolink:Disease	mondo	ICD10:E83.0|MESH:C535468|OMIM:121270|SCTID:763531001|GARD:0001522|UMLS:C1852576|Orphanet:1551	ordo_disease|gard_rare	familial benign hypocupremia|copper deficiency, familial benign	http://purl.obolibrary.org/obo/MONDO_0007368	Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982.	UMLS:C1852576|ORPHA:1551|MESH:C535468|http://identifiers.org/omim/121270|SNOMEDCT:763531001
MONDO:0020346	synaptic congenital myasthenic syndrome	biolink:Disease	mondo	ICD10:G70.2|Orphanet:98915	ordo_etiological_subtype	synaptic congenital myasthenic syndromes	http://purl.obolibrary.org/obo/MONDO_0020346		ORPHA:98915
MONDO:0007369	hereditary coproporphyria	biolink:Disease	mondo	Orphanet:79273|MESH:D046349|SCTID:7425008|OMIM:121300|GARD:0006619|MedDRA:10019866|ICD10:E80.2|UMLS:C0162531|NCIT:C84759|ICD10:E80.29|DOID:13269	ordo_disease|gard_rare	Harderoporphyria|Cpox deficiency|coproporphyria, hereditary|CPRO deficiency|coproporphyria hereditary|HCP|coproporphyrinogen oxidase deficiency|hereditary coproporphyria porphyria|Cpx deficiency|porphyria hepatica II|hereditary coproporphyria|coproporphyria|coproporphyria, hereditary; HCP|porphyria hepatica coproporphyria|Cpo deficiency	http://purl.obolibrary.org/obo/MONDO_0007369	Hereditary coproporphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.	MESH:D046349|NCIT:C84759|MEDDRA:10019866|UMLS:C0162531|SNOMEDCT:7425008|DOID:13269|ORPHA:79273|http://identifiers.org/omim/121300
MONDO:0020345	presynaptic congenital myasthenic syndrome	biolink:Disease	mondo	ICD10:G70.2|Orphanet:98914	ordo_etiological_subtype	presynaptic congenital myasthenic syndromes	http://purl.obolibrary.org/obo/MONDO_0020345		ORPHA:98914
GO:0042221	response to chemical	biolink:OntologyClass	mondo			response to chemical substance|response to chemical stimulus	http://purl.obolibrary.org/obo/GO_0042221	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus.	
MONDO:0007366	seizures, benign familial neonatal, 2	biolink:Disease	mondo	OMIM:121201|UMLS:C1852581		seizures, benign familial neonatal, type 2|BFNS2|seizures, benign familial neonatal, 2; BFNS2|seizures, benign familial neonatal, 2|KCNQ3 benign neonatal seizures|benign neonatal seizures caused by mutation in KCNQ3|convulsions, benign familial neonatal, 2	http://purl.obolibrary.org/obo/MONDO_0007366	Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ3 gene.	http://identifiers.org/omim/121201|UMLS:C1852581
MONDO:0020344	postsynaptic congenital myasthenic syndrome	biolink:Disease	mondo	ICD10:G70.2|Orphanet:98913	ordo_etiological_subtype	postsynaptic congenital myasthenic syndromes	http://purl.obolibrary.org/obo/MONDO_0020344		ORPHA:98913
MONDO:0020343	alpha-crystallinopathy	biolink:Disease	mondo	Orphanet:98910|ICD10:G71.8	ordo_group_of_disorders	CRYAB-related myofobrillar myopathy	http://purl.obolibrary.org/obo/MONDO_0020343		ORPHA:98910
MONDO:0007367	FEB1	biolink:Disease	mondo	UMLS:C1852577|OMIM:121210|SCTID:230432008|DOID:0111307|ICD9:780.39|MESH:C565162		febrile seizures, familial, 1; FEB1|febrile seizures, familial, 1|convulsions, familial febrile|FEB1|convulsions, familial febrile, 1	http://purl.obolibrary.org/obo/MONDO_0007367		SNOMEDCT:230432008|MESH:C565162|DOID:0111307|http://identifiers.org/omim/121210|UMLS:C1852577
MONDO:0020342	congenital myopathy with excess of thin filaments	biolink:Disease	mondo	MESH:C579880|Orphanet:98904|ICD10:G71.2	ordo_disease	actin myopathy	http://purl.obolibrary.org/obo/MONDO_0020342		MESH:C579880|ORPHA:98904
MONDO:0007364	arthrogryposis, distal, type 2E	biolink:Disease	mondo	UMLS:C1852597|OMIM:121070|MESH:C535384		arthrogryposis, distal, type 2E|contractures of fingers and jaw	http://purl.obolibrary.org/obo/MONDO_0007364		MESH:C535384|http://identifiers.org/omim/121070|UMLS:C1852597
MONDO:0007365	seizures, benign familial neonatal, 1	biolink:Disease	mondo	OMIM:121200|UMLS:C3149074|MESH:C567743		seizures, benign familial neonatal, 1, and/or myokymia|epilepsy, benign neonatal, 1, and/or myokymia|seizures, benign familial neonatal, type 1|seizures, benign familial neonatal, 1; BFNS1|BFNS1|KCNQ2 benign neonatal seizures|seizures, benign familial neonatal, 1|benign neonatal seizures caused by mutation in KCNQ2	http://purl.obolibrary.org/obo/MONDO_0007365	Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ2 gene.	UMLS:C3149074|MESH:C567743|http://identifiers.org/omim/121200
MONDO:0020341	periventricular nodular heterotopia	biolink:Disease	mondo	MESH:D054091|DOID:0050454|Orphanet:98892|ICD10:Q04.8|MedDRA:10066854|GARD:0012724|UMLS:C1868720|OMIMPS:300049	ordo_clinical_subtype	periventricular heterotopia	http://purl.obolibrary.org/obo/MONDO_0020341	Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.	DOID:0050454|ORPHA:98892|UMLS:C1868720|MEDDRA:10066854|MESH:D054091
MONDO:0020340	bilateral perisylvian polymicrogyria	biolink:Disease	mondo	ICD10:Q04.3|GARD:0006011|Orphanet:98889	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0020340		ORPHA:98889
MONDO:0007362	cone-rod dystrophy 2	biolink:Disease	mondo	OMIM:120970|ICD9:362.75|DOID:0111005|GARD:0006145|UMLS:CN074280|SCTID:80328002		cone-rod dystrophy 2; CORD2|cone-rod retinal dystrophy 2|cone-rod dystrophy 2|CRX cone-rod dystrophy|cone-rod retinal dystrophy|retinal cone-rod dystrophy 2|cone-rod dystrophy|retinal cone-rod dystrophy|cone-rod dystrophy caused by mutation in CRX|CORD2|cone-rod dystrophy type 2|RCRD2|CRD2	http://purl.obolibrary.org/obo/MONDO_0007362	Any cone-rod dystrophy in which the cause of the disease is a mutation in the CRX gene.	UMLS:CN074280|DOID:0111005|SNOMEDCT:80328002|http://identifiers.org/omim/120970
MONDO:0007363	congenital contractural arachnodactyly	biolink:Disease	mondo	DOID:0111595|UMLS:C0220668|ICD10:Q68.8|NCIT:C129865|SCTID:205821003|OMIM:121050|MESH:C536211|GARD:0005899|ICD9:759.89|Orphanet:115	ordo_malformation_syndrome	contractures, multiple with arachnodactyly|arthrogryposis, distal, type 9; DA9|CCA|arthrogryposis, distal, type 9|distal arthrogryposis type 9|DA9|CCA syndrome|arachnodactyly, contractural Beals type|contractural arachnodactyly, congenital|Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis|Beals syndrome|Beals-Hecht syndrome	http://purl.obolibrary.org/obo/MONDO_0007363	Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.	SNOMEDCT:205821003|ORPHA:115|MESH:C536211|NCIT:C129865|DOID:0111595|http://identifiers.org/omim/121050|UMLS:C0220668
MONDO:0007360	branchiootic syndrome 2	biolink:Disease	mondo	OMIM:120502|MESH:C565171|UMLS:C1852718		bo syndrome 2|branchiootic syndrome 2|branchiootic syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0007360		MESH:C565171|http://identifiers.org/omim/120502|UMLS:C1852718
MONDO:0007361	C1 inhibitor deficiency	biolink:Disease	mondo	ICD10:D84.1|DOID:0060002|UMLS:C1852700|Orphanet:459353|OMIM:120790	ordo_disease	Quincke edema|complement component 4, partial deficiency OF	http://purl.obolibrary.org/obo/MONDO_0007361		ORPHA:459353|DOID:0060002|UMLS:C1852700|http://identifiers.org/omim/120790
MONDO:0020339	X-linked complex spastic paraplegia	biolink:Disease	mondo	Orphanet:98888|ICD10:G11.4	ordo_group_of_disorders	Complex X-linked SPG|Complex X-linked HSP|X-linked complicated spastic paraplegia|complicated X-linked SPG|complicated X-linked HSP	http://purl.obolibrary.org/obo/MONDO_0020339		ORPHA:98888
MONDO:0020338	adult pure red cell aplasia	biolink:Disease	mondo	SCTID:765748009|NCIT:C70548|ICD10:D60.0|Orphanet:98872|GARD:0010898|UMLS:C0340961	ordo_disease	idiopathic pure red cell aplasia|acquired pure red cell aplasia|pure red-cell aplasia of adults|adult pure red-cell aplasia|acquired PRCA	http://purl.obolibrary.org/obo/MONDO_0020338	Adult pure red cell aplasia is a rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoesis and megakaryopoesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms.	ORPHA:98872|UMLS:C0340961|NCIT:C70548|SNOMEDCT:765748009
MONDO:0020337	congenital dyserythropoietic anemia type 1	biolink:Disease	mondo	Orphanet:98869|GARD:0002000|SCTID:59548005|DOID:0111396|ICD10:D64.4	ordo_disease	CDA type 1|CDA I|congenital dyserythropoietic anemia type 1|anemia, dyserythropoietic, congenital type 1|CDA type I|dyserythropoietic anemia, congenital type 1|type I congenital dyserythropoietic anemia	http://purl.obolibrary.org/obo/MONDO_0020337	Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis.	UMLS:C0271933|ORPHA:98869|DOID:0111396|SNOMEDCT:59548005
MONDO:0020336	autosomal dominant Emery-Dreifuss muscular dystrophy	biolink:Disease	mondo	Orphanet:98853|GARD:0002101|ICD10:G71.0	ordo_etiological_subtype|gard_rare	Emery-Dreifuss muscular dystrophy, autosomal dominant|EDMD2	http://purl.obolibrary.org/obo/MONDO_0020336	Autosomal dominant form of Emery-Dreifuss muscular dystrophy.	UMLS:C0410190|ORPHA:98853
MONDO:0022998	distal arthrogryposis Moore weaver type	biolink:Disease	mondo	MESH:C536814|UMLS:C2931342		Moore Weaver syndrome	http://purl.obolibrary.org/obo/MONDO_0022998		MESH:C536814|UMLS:C2931342
MONDO:0019357	congenital narrowing of cervical spinal canal	biolink:Disease	mondo	Orphanet:831|ICD10:Q06.8	ordo_disease	congenital cervical spinal stenosis|congenital stenosis of the cervical spine	http://purl.obolibrary.org/obo/MONDO_0019357	14mm), predisposing the individual to symptomatic neural compression, such as cramps, paresthesias, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances.	ORPHA:831
GO:0030278	regulation of ossification	biolink:OntologyClass	mondo			regulation of bone formation|regulation of bone biosynthesis	http://purl.obolibrary.org/obo/GO_0030278	Any process that modulates the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance.	
MONDO:0019356	urogenital tract malformation	biolink:Disease	mondo	Orphanet:83001	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019356		ORPHA:83001
MONDO:0022999	distichiasis heart congenital anomalies	biolink:Disease	mondo	GARD:0001890	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022999		
HGNC:20603	DHDDS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20603		
MONDO:0019359	Rocky mountain spotted fever	biolink:Disease	mondo	DOID:0050052|GARD:0007585|SCTID:186772009|MedDRA:10039207|MESH:D012373|ICD10:A77.0|NCIT:C128410|Orphanet:83311|UMLS:C0035793	gard_rare|ordo_disease	Choix|So Paulo fever|Brazillian spotted|Fiebre maculosa|sao Paulo typhus|Tobia fever|RMSF|Tick typhus|exanthematic typhus of sao Paulo|Fiebre manchada	http://purl.obolibrary.org/obo/MONDO_0019359	Rocky Mountain spotted fever refers to an infection caused by the bacterium Rickettsia rickettsia. This particular bacterium is carried by certain species of ticks and spread to humans through the bites of infected ticks. Signs and symptoms of the condition generally develop approximately 2 to 14 days following the tick bite and may include fever, rash, headache, muscle pain, chills, and/or confusion. Some affected people may also experience diarrhea, nausea, vomiting, light sensitivity, hallucinations, and/or excessive thirst. Most cases occur in the spring and summer and are found in children. Risk factors for developing the conditioninclude recent hiking or exposure to ticks in an area where the disease is known to occur. Rocky Mountain spotted fever is typically treated with antibiotics (such as doxycycline or tetracycline).	DOID:0050052|MESH:D012373|NCIT:C128410|ORPHA:83311|SNOMEDCT:186772009|MEDDRA:10039207|UMLS:C0035793
MONDO:0019358	encephalopathy due to sulfite oxidase deficiency	biolink:Disease	mondo	ICD10:E72.1|Orphanet:833|UMLS:C4275019|SCTID:715980003	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019358	Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation.	ORPHA:833|SNOMEDCT:715980003|UMLS:C4275019
MONDO:0019353	Stargardt disease	biolink:Disease	mondo	UMLS:C0271093|NCIT:C85078|Orphanet:827|UMLS:C1855465|MedDRA:10062766|DOID:0050817|SCTID:47673003|GARD:0000181|ICD10:H35.5	ordo_disease|gard_rare	juvenile onset macular degeneration|Stargardt 1|fundus flavimaculatus|Stargardt macular dystrophy|Stargardt disease 1	http://purl.obolibrary.org/obo/MONDO_0019353	Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion.	UMLS:C0271093|SNOMEDCT:47673003|DOID:0050817|UMLS:C1855465|ORPHA:827|NCIT:C85078|MEDDRA:10062766
MONDO:0019352	obsolete sporotrichosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019352		
MONDO:0019355	adult-onset Still disease	biolink:Disease	mondo	DOID:14256|GARD:0000436|MedDRA:10064056|MESH:D016706|SCTID:239920006|UMLS:C0085253|SCTID:68190001|Orphanet:829|ICD10:M06.1|ICD9:714.2|UMLS:CN206037|MedDRA:10058493|EFO:0007135|ICD9:759.89	ordo_disease|gard_rare	AOSD|Wissler-Fanconi syndrome|adult onset Still's disease|Still's disease adult onset|adult-onset Still's disease|adult Still's disease|adult-onset Still disease	http://purl.obolibrary.org/obo/MONDO_0019355	Adult-onset Still disease (AOSD) is a rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash.	MESH:D016706|UMLS:C0043195|UMLS:C0085253|MEDDRA:10064056|MESH:D014924|DOID:14256|UMLS:CN206037|ORPHA:829|MEDDRA:10058493|SNOMEDCT:239920006|SNOMEDCT:68190001
MONDO:0019354	Stickler syndrome	biolink:Disease	mondo	Orphanet:828|UMLS:C0265253|GARD:0010782|SCTID:78675000|DOID:0080046|ICD10:Q87.0|OMIMPS:108300|ICD9:759.89|MedDRA:10063402|NCIT:C74984	ordo_disease	hereditary progressive arthroophthalmopathy	http://purl.obolibrary.org/obo/MONDO_0019354	Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases).	DOID:0080046|UMLS:C0265253|MEDDRA:10063402|ORPHA:828|NCIT:C74984|SNOMEDCT:78675000
MONDO:0022990	diphallus rachischisis imperforate anus	biolink:Disease	mondo	GARD:0001873	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022990		
MONDO:0022991	diploid-triploid mosaicism	biolink:Disease	mondo	UMLS:C0265505|ICD9:758.89|MESH:C548012|SCTID:10177005|GARD:0010715	gard_rare	Mosaic triploidy|Growth retardation, truncal obesity, facial asymmetry, hypotonia, small phallus, malformed low-set ears and micrognathia|diploid/triploid mixoploidy|diploid/triploid mosaicism	http://purl.obolibrary.org/obo/MONDO_0022991	Diploid-triploid mosaicism is a chromosome disorder. Individuals with diploid-triploid syndrome have some cells with three copies of each chromosome for a total of 69 chromosomes (called triploid cells) and some cells with the usual 2 copies of each chromosome for a total of 46 chromosomes (called diploid cells). Having two or more different cell types is called mosaicism. Diploid-triploid mosaicism can be associated withtruncal obesity, body/facial asymmetry, weak muscle tone (hypotonia), delays in growth,mild differences infacial features, fusion or webbing between some of the fingers and/or toes (syndactyly) and irregularities in the skin pigmentation. Intellectual disabilities may be present but are highly variable from person to person ranging from mild to more severe. The chromosome disorder is usually not present in the blood; a skin biopsy, or analyzing cells in the urine is needed to detect the triploid cells.	UMLS:C0265505|SNOMEDCT:10177005|MESH:C548012
NCBITaxon:42415	Sigmodon hispidus	organism taxon	mondo	GC_ID:1		Sigmodon hispiedis|hispid cotton rat	http://purl.obolibrary.org/obo/NCBITaxon_42415		
MONDO:0019340	scleroderma (disease)	biolink:Disease	mondo	DOID:419|MedDRA:10039710|Orphanet:801|NCIT:C26746|HP:0100324	ordo_group_of_disorders	dermatosclerosis|scleroderma|Scleroderma	http://purl.obolibrary.org/obo/MONDO_0019340	Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc).	DOID:419|ORPHA:801|UMLS:C0011644|NCIT:C26746|MEDDRA:10039710
MONDO:0022993	dipsogenic diabetes insipidus	biolink:Disease	mondo	SCTID:82800008|MESH:C548013|UMLS:C0268813|GARD:0010703|NCIT:C129735	gard_rare	dipsogenic diabetes insipidus|primary polydipsia|Dipsogenic diabetes insipidus	http://purl.obolibrary.org/obo/MONDO_0022993	Diabetes insipidus caused by excessive intake of water due to psychological factors or damage to the thirst-regulating mechanism.	MESH:C548013|NCIT:C129735|SNOMEDCT:82800008|UMLS:C0268813
NCBITaxon:42414	Sigmodon	organism taxon	mondo	GC_ID:1		cotton rats	http://purl.obolibrary.org/obo/NCBITaxon_42414		
MONDO:0007379	Meesmann corneal dystrophy	biolink:Disease	mondo	SCTID:1674008|MESH:D053559|OMIMPS:122100|Orphanet:98954|ICD10:H18.52|DOID:0060451|UMLS:C0339277|NCIT:C84795|GARD:0009688|ICD10:H18.5|ICD9:371.51	gard_rare|ordo_disease	stocker-Holt dystrophy|corneal dystrophy, Meesmann; MECD|Meesmann corneal epithelial dystrophy|corneal dystrophy, Meesmann|corneal dystrophy, juvenile epithelial of Meesmann|MECD|corneal dystrophy, juvenile epithelial, of Meesmann|Meesman dystrophy|juvenile hereditary epithelial dystrophy|juvenile hereditary epithelial dystrophy of Meesmann|corneal dystrophy, Meesmann epithelial|Meesmann corneal dystrophy|juvenile epithelial of Meesmann corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0007379	Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision.	NCIT:C84795|UMLS:C0339277|SNOMEDCT:1674008|ORPHA:98954|http://identifiers.org/omim/122100|MESH:D053559|DOID:0060451
MONDO:0020335	obsolete desquamative interstitial pneumonia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0020335		
MONDO:0020334	mast cell leukemia	biolink:Disease	mondo	MESH:D007946|NCIT:C3169|UMLS:C0023461|MedDRA:10056450|EFO:0007359|ICDO:9742/3|ICD10:C94.3|Orphanet:98851|SCTID:110002002|DOID:9254|ONCOTREE:SMMCL|ICD10:C94.30	ordo_group_of_disorders	SMMCL|mast-cell leukemia|Mast cell leukemia	http://purl.obolibrary.org/obo/MONDO_0020334	Mast cell leukemia is a malignant form of systemic mastocytosis (SM) characterized, most of the time, by the presence of circulating mast cells.	ORPHA:98851|SNOMEDCT:110002002|UMLS:C0023461|MESH:D007946|DOID:9254|MEDDRA:10056450|NCIT:C3169
MONDO:0007377	granular corneal dystrophy type I	biolink:Disease	mondo	DOID:0080530|OMIM:121900|MESH:C537304|Orphanet:98962|SCTID:419039007|ICD10:H18.5|GARD:0009677|UMLS:C1641846	ordo_disease	GCD1|granular corneal dystrophy type 1|corneal dystrophy Groenouw type I|classic granular corneal dystrophy|Groenouw type I corneal dystrophy|CDGG1|corneal dystrophy, Groenouw type I; CDGG1|granular corneal dystrophy, type 1|GCDI|corneal dystrophy granular type|corneal dystrophy, Groenouw type I|corneal dystrophy punctate or nodular|corneal dystrophy, Groenouw type 1|classic GCD|corneal dystrophy, punctate or nodular	http://purl.obolibrary.org/obo/MONDO_0007377	Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe.	SNOMEDCT:419039007|MESH:C537304|DOID:0080530|ORPHA:98962|http://identifiers.org/omim/121900|UMLS:C1641846
MONDO:0020333	aggressive systemic mastocytosis	biolink:Disease	mondo	MedDRA:10056453|DOID:4798|SCTID:716655008|NCIT:C9285|Orphanet:98850|ICDO:9741/3|ONCOTREE:ASM|UMLS:C1112486|ICD10:C96.2	ordo_disease	lymphadenopathic mastocytosis with eosinophilia|aggressive systemic mastocytosis (morphologic abnormality)|ASM	http://purl.obolibrary.org/obo/MONDO_0020333	Aggressive systemic mastocytosis (ASM) is a severe and rare form of systemic mastocytosis (SM) characterized by considerable infiltration of mast cells in different tissues.	NCIT:C9285|ORPHA:98850|DOID:4798|MEDDRA:10056453|UMLS:C1112486|SNOMEDCT:716655008
MONDO:0020332	systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease	biolink:Disease	mondo	SCTID:397015000|DOID:4797|ICD10:C96.2|NCIT:C9284|EFO:1000559|ICDO:9741/3|ONCOTREE:SMAHN|Orphanet:98849	ordo_disease	systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease|systemic mastocytosis with an associated hematological neoplasm (SM-AHN)|SM-AHN|systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease|systemic mastocytosis with an associated hematological neoplasm|systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease (morphologic abnormality)|systemic mastocytosis with associated clonal haematological non-mast cell lineage disease|SM-AHNMD|SMAHN|systemic mastocytosis with associated hematologic neoplasm	http://purl.obolibrary.org/obo/MONDO_0020332	Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease is a form of systemic mastocytosis (SM) associated with malignancy (other than mast cell leukemia).	NCIT:C9284|SNOMEDCT:397015000|ORPHA:98849|UMLS:C1301365|DOID:4797
MONDO:0007378	posterior polymorphous corneal dystrophy 1	biolink:Disease	mondo	OMIM:122000|SCTID:29504002|DOID:0110855|UMLS:CN029625|ICD9:371.58|ICD10:H18.50		corneal dystrophy, hereditary polymorphous posterior|corneal dystrophy, POSTERIOR polymorphous, 1|corneal dystrophy, POSTERIOR polymorphous, 1; PPCD1|Maumenee corneal dystrophy|Ppcd1|posterior polymorphous corneal dystrophy|corneal endothelial dystrophy 1, autosomal dominant|corneal endothelial dystrophy 1, autosomal dominant, formerly|Ched1|corneal dystrophy, posterior polymorphous, type 1|posterior polymorphous corneal dystrophy type 1|PPCD1	http://purl.obolibrary.org/obo/MONDO_0007378	A posterior polymorphous corneal dystrophy that has material basis in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23.	SNOMEDCT:29504002|UMLS:CN029625|http://identifiers.org/omim/122000|DOID:0110855
MONDO:0007375	epithelial basement membrane dystrophy	biolink:Disease	mondo	DOID:0060447|OMIM:121820|Orphanet:98956|ICD10:H18.5|SCTID:373426005|GARD:0009732|MESH:C535477	ordo_disease	corneal dystrophy, anterior basement Membrane|microcystic corneal dystrophy|Cogan corneal dystrophy|corneal dystrophy, Map-Dot-Fingerprint type|anterior basement membrane dystrophy|epithelial basement membrane corneal dystrophy|corneal dystrophy, epithelial basement MEMBRANE|corneal dystrophy, epithelial basement MEMBRANE; EBMD|microcystic dystrophy of the cornea|corneal dystrophy, microcystic|EBMD|Map-dot-fingerprint dystrophy of cornea|Map-dot-fingerprint dystrophy|Cogan microcystic epithelial dystrophy	http://purl.obolibrary.org/obo/MONDO_0007375		SNOMEDCT:373426005|ORPHA:98956|MESH:C535477|DOID:0060447|http://identifiers.org/omim/121820
NCBITaxon:862507	Mus <subgenus>	organism taxon	mondo	GC_ID:1		Mus	http://purl.obolibrary.org/obo/NCBITaxon_862507		
MONDO:0020331	indolent systemic mastocytosis	biolink:Disease	mondo	MedDRA:10056452|UMLS:C0272203|ICD10:D47.0|ONCOTREE:ISM|DOID:4660|SCTID:70910003|ICDO:9741/1|Orphanet:98848|NCIT:C9286	ordo_disease	indolent systemic mastocytosis (morphologic abnormality)|ism	http://purl.obolibrary.org/obo/MONDO_0020331	Indolent systemic mastocytosis (ISM) is a benign form of systemic mastocytosis (SM) characterized by an abnormal proliferation of mast cells either only in bone marrow or in numerous tissues.	ORPHA:98848|DOID:4660|MEDDRA:10056452|UMLS:C0272203|SNOMEDCT:70910003|NCIT:C9286
MONDO:0007376	fleck corneal dystrophy	biolink:Disease	mondo	DOID:0060448|UMLS:C1562113|OMIM:121850|SCTID:417183007|ICD10:H18.5|Orphanet:98970|MESH:C563256|ICD9:371.56	ordo_disease	FCD|fleck corneal dystrophy|Cfd|Francois-Neetens speckled corneal dystrophy|François-Neetens speckled corneal dystrophy|corneal dystrophy, Francois-Neetens speckled or flecked|FranC'ois-Neetens speckled corneal dystrophy|corneal dystrophy, FLECK	http://purl.obolibrary.org/obo/MONDO_0007376	Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity.	SNOMEDCT:417183007|ORPHA:98970|MESH:C563256|DOID:0060448|UMLS:C1562113|http://identifiers.org/omim/121850
MONDO:0020330	classic Hodgkin lymphoma, lymphocyte-depleted type	biolink:Disease	mondo	ICD10:C81.3|Orphanet:98846	ordo_histopathological_subtype		http://purl.obolibrary.org/obo/MONDO_0020330		ORPHA:98846
MONDO:0007373	corneal degeneration, ribbonlike, with deafness	biolink:Disease	mondo	OMIM:121450|MESH:C565157|UMLS:C1852556		band keratopathy with deafness|corneal degeneration, ribbonlike, with deafness	http://purl.obolibrary.org/obo/MONDO_0007373		MESH:C565157|http://identifiers.org/omim/121450|UMLS:C1852556
MONDO:0007374	Schnyder corneal dystrophy	biolink:Disease	mondo	MESH:C535475|DOID:0060456|OMIM:121800|Orphanet:98967|GARD:0009277|SCTID:419395007|ICD10:H18.5	ordo_disease	corneal dystrophy crystalline of Schnyder|Schnyder crystalline dystrophy sine crystals|corneal dystrophy, crystalline, of Schnyder|Schnyder corneal dystrophy|SCCD|crystalline stromal dystrophy|hereditary crystalline stromal dystrophy of Schnyder|Schnyder crystalline corneal dystrophy|Schnyder corneal dystrophy; SCCD|SCD|corneal dystrophy, Schnyder	http://purl.obolibrary.org/obo/MONDO_0007374	Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity.	UMLS:C0271287|ORPHA:98967|SNOMEDCT:419395007|MESH:C535475|DOID:0060456|http://identifiers.org/omim/121800
MONDO:0007371	cornea guttata with anterior polar cataracts	biolink:Disease	mondo	GARD:0009507|UMLS:C1852558|OMIM:121390|MESH:C535471		cornea guttata with anterior polar cataract|cornea guttata with anterior polar cataracts|familial congenital cornea guttata with anterior polar cataracts (type)	http://purl.obolibrary.org/obo/MONDO_0007371		MESH:C535471|http://identifiers.org/omim/121390|UMLS:C1852558
MONDO:0007372	cornea plana 1, autosomal dominant	biolink:Disease	mondo	MESH:C565158|OMIM:121400|UMLS:C1852557		cornea plana 1; CNA1|CNA1|cornea plana 1|cornea plana 1, autosomal dominant; CNA1	http://purl.obolibrary.org/obo/MONDO_0007372		MESH:C565158|http://identifiers.org/omim/121400|UMLS:C1852557
MONDO:0020329	classic Hodgkin lymphoma, lymphocyte-rich type	biolink:Disease	mondo	MedDRA:10020231|Orphanet:98845|ICD10:C81.4	ordo_histopathological_subtype		http://purl.obolibrary.org/obo/MONDO_0020329		UMLS:C1266194|ORPHA:98845|MEDDRA:10020231
MONDO:0007370	coracoclavicular joint, anomalous	biolink:Disease	mondo	OMIM:121350|MESH:C565161		coracoclavicular joint, anomalous	http://purl.obolibrary.org/obo/MONDO_0007370		MESH:C565161|http://identifiers.org/omim/121350
MONDO:0020328	classic Hodgkin lymphoma, mixed cellularity type	biolink:Disease	mondo	Orphanet:98844|ICD10:C81.2	ordo_histopathological_subtype		http://purl.obolibrary.org/obo/MONDO_0020328		ORPHA:98844
MONDO:0019349	Sotos syndrome	biolink:Disease	mondo	UMLS:CN239475|GARD:0010091|UMLS:C0175695|MedDRA:10064387|MESH:D058495|Orphanet:821|NCIT:C75019|DOID:14748|ICD10:Q87.3|OMIMPS:117550	ordo_disease	Sotos' syndrome|cerebral gigantism syndrome|distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development|cerebral gigantism	http://purl.obolibrary.org/obo/MONDO_0019349	Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.	MESH:D058495|UMLS:CN239475|UMLS:C0175695|MEDDRA:10064387|NCIT:C75019|ORPHA:821|DOID:14748
MONDO:0020327	classic Hodgkin lymphoma, nodular sclerosis type	biolink:Disease	mondo	Orphanet:98843|ICD10:C81.1	ordo_histopathological_subtype		http://purl.obolibrary.org/obo/MONDO_0020327		ORPHA:98843
MONDO:0020326	lymphomatoid papulosis	biolink:Disease	mondo	MESH:D017731|SCTID:31047003|ICDO:9718/1|ICD9:447.8|EFO:1000341|GARD:0006944|MedDRA:10056670|Orphanet:98842|ONCOTREE:LYP|UMLS:C0206182|NCIT:C3721|ICD10:L41.2|ICD10:C86.6	ordo_disease|gard_rare	LyP|LYP	http://purl.obolibrary.org/obo/MONDO_0020326	Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL) with which it shares overlapping clinical and histopathologic features.	NCIT:C3721|UMLS:C0206182|ORPHA:98842|SNOMEDCT:31047003|MEDDRA:10056670|MESH:D017731
MONDO:0020325	anaplastic large cell lymphoma	biolink:Disease	mondo	NCIT:C3720|HGNC:427|ICD10:C84.7|DOID:0050744|ICD10:C84.6|ICD9:200.6|ICD9:200.60|UMLS:C0206180|ICDO:9714/3|COHD:441235|ONCOTREE:ALCL|Orphanet:98841|MESH:D017728|GARD:0003112|EFO:0003032|SCTID:277637000	gard_rare|ordo_disease	CD30 positive anaplastic large cell lymphoma|ALCL|Ki-1+ ALCL|anaplastic large cell lymphoma|Ki-1 lymphoma|Ki-1+ anaplastic large cell lymphoma|CD30 Positive anaplastic large cell lymphoma|primary systemic ALCL|Ki-1 positive anaplastic large cell lymphoma|sACL	http://purl.obolibrary.org/obo/MONDO_0020325	Anaplastic large cell lymphoma (ALCL) is a rare and aggressive peripheral T-cell non-Hodgkin lymphoma, belonging to the group of CD30-positive lymphoproliferative disorders, which affects lymph nodes and extranodal sites. It is comprised of two sub-types, based on the expression of a protein called anaplastic lymphoma kinase (ALK): ALK positive and ALK negative ALCL.	NCIT:C3720|UMLS:C0206180|ORPHA:98841|DOID:0050744|MESH:D017728|SNOMEDCT:277637000
NCBITaxon:1437010	Boreoeutheria	organism taxon	mondo	PMID:11743200|PMID:11791233|GC_ID:1		Boreotheria	http://purl.obolibrary.org/obo/NCBITaxon_1437010		
MONDO:0019346	sialidosis type 1	biolink:Disease	mondo	SCTID:34960006|UMLS:CN206021|GARD:0007639|UMLS:C0023806|Orphanet:812|ICD10:E77.1	ordo_disease	cherry red spot myoclonus syndrome|myoclonus cherry red spot syndrome|Normomorphic sialidosis|lipomucopolysaccharidosis|normosomatic sialidosis|sialidosis type I|cherry-red spot-myoclonus syndrome	http://purl.obolibrary.org/obo/MONDO_0019346	Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.	ORPHA:812|UMLS:CN206021|UMLS:C0023806|SNOMEDCT:34960006
MONDO:0019345	shigellosis	biolink:Disease	mondo	MedDRA:10017915|COHD:201780|ICD10:A03|ICD10:A03.8|GARD:0004818|DOID:12385|ICD9:004|ICD9:004.3|SCTID:36188001|MedDRA:10054178|ICD9:004.2|ICD10:A03.9|ICD9:004.1|ICD10:A03.3|ICD9:004.9|ICD9:004.0|MESH:D004405|KEGG:05131|Orphanet:810|ICD10:A03.2|ICD10:A03.1|EFO:0005585|ICD10:A03.0	gard_rare|ordo_disease	flexner's dysentery|Shigella boydii infectious disease|Shigella sonnei infectious disease|shigellosis|japanese dysentery|Shigella gastroenteritis|Shigella flexneri infectious disease|Shigella dysentery|bacillary dysentery	http://purl.obolibrary.org/obo/MONDO_0019345	Shigellosis is a bacterial infection leading to dysentery and is caused by Shigella, which are small, ubiquitous Gram-negative bacteria belonging to the enterobacteria family. There are four species: S. dysenteriae, S. flexneri, S. boydii and S. sonnei, all of which cause bacillary dysentery and are strictly limited to human hosts.	MESH:D004405|MEDDRA:10054178|UMLS:C0013371|ORPHA:810|SNOMEDCT:36188001|DOID:12385|MEDDRA:10017915
MONDO:0022989	diomedi bernardi placidi syndrome	biolink:Disease	mondo	GARD:0001870	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022989		
MONDO:0019348	obsolete Ehlers-Danlos syndrome with periventricular heterotopia	biolink:Disease	mondo	Orphanet:82004|SCTID:720857006|UMLS:C4303790|ICD10:Q79.6		EDS with periventricular heterotopia	http://purl.obolibrary.org/obo/MONDO_0019348	Ehlers-Danlos syndrome (EDS) with periventricular heterotopia is a newly described variant of EDS. Affected patients exhibit features consistent with EDS, including joint hypermobility, skin fragility and aortic dilatation. They also have periventricular heterotopia (PH), which is characterized by focal epilepsy usually beginning in the second decade of life. Intelligence is generally normal. Some patients also have cardiac anomalies such as patent ductus arteriosus, bicuspid aortic valves, or aneurismal dilatation of the sinus of Valsalva.	http://identifiers.org/omim/300537|SNOMEDCT:720857006|UMLS:C4303790|ORPHA:82004
MONDO:0019347	peeling skin syndrome	biolink:Disease	mondo	DOID:0060283|Orphanet:817|ICD9:757.39|GARD:0007347|SCTID:239065004|ICD10:Q80.8|OMIMPS:270300	ordo_group_of_disorders	PSS|familial continuous skin peeling syndrome|keratosis exfoliativa congenita|deciduous skin|idiopathic deciduous skin|familial continuous skin peeling|skin peeling syndrome|peeling skin disease	http://purl.obolibrary.org/obo/MONDO_0019347	Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS.	SNOMEDCT:239065004|UMLS:C0406357|ORPHA:817|DOID:0060283
MONDO:0019342	Seckel syndrome	biolink:Disease	mondo	OMIMPS:210600|ICD10:Q87.1|DOID:0050569|NCIT:C125488|Orphanet:808|UMLS:C0265202|SCTID:57917004|ICD9:759.89|GARD:0008562	ordo_malformation_syndrome	bird-headed dwarfism|nanocephalic Dwarfism|Seckel-type Dwarfism|SCKL|microcephalic primordial dwarfism|Harper's syndrome|Virchow-Seckel dwarfism	http://purl.obolibrary.org/obo/MONDO_0019342	A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a "bird-headed" facial appearance.	SNOMEDCT:57917004|UMLS:C0265202|MESH:C537533|DOID:0050569|ORPHA:808|NCIT:C125488
GO:0030262	apoptotic nuclear changes	biolink:OntologyClass	mondo			apoptotic nuclear change	http://purl.obolibrary.org/obo/GO_0030262	Alterations undergone by nuclei at the molecular and morphological level as part of the execution phase of apoptosis.	
GO:0030263	apoptotic chromosome condensation	biolink:OntologyClass	mondo			pyknosis	http://purl.obolibrary.org/obo/GO_0030263	The compaction of chromatin during apoptosis.	
MONDO:0019341	tuberous sclerosis complex	biolink:Disease	mondo	MedDRA:10045138|Orphanet:805|GARD:0007830|ICD10:Q85.1|GARD:0000946	gard_rare|ordo_disease	Bourneville's syndrome|tuberous sclerosis|Bourneville syndrome	http://purl.obolibrary.org/obo/MONDO_0019341	Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features.	MESH:D014402|UMLS:C0041341|ORPHA:805|MEDDRA:10045138
MONDO:0019344	antisynthetase syndrome	biolink:Disease	mondo	SCTID:445187004|Orphanet:81|GARD:0000735|MESH:C537778|ICD9:279.49|EFO:1001982|ICD10:M35.8|UMLS:C2609059|MedDRA:10068801	ordo_disease|gard_rare	anti-Jo1 syndrome|AS syndrome	http://purl.obolibrary.org/obo/MONDO_0019344	Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS).	MEDDRA:10068801|MESH:C537778|UMLS:C2609059|SNOMEDCT:445187004|ORPHA:81
MONDO:0019343	obsolete mixed connective tissue disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019343		
GO:0030261	chromosome condensation	biolink:OntologyClass	mondo			eukaryotic chromosome condensation|DNA condensation|nuclear chromosome condensation	http://purl.obolibrary.org/obo/GO_0030261	The progressive compaction of dispersed interphase chromatin into threadlike chromosomes prior to mitotic or meiotic nuclear division, or during apoptosis, in eukaryotic cells.	
UBERON:0018664	neck of bone element	biolink:AnatomicalEntity	mondo			neck of bone|bone neck	http://purl.obolibrary.org/obo/UBERON_0018664	the neck region of a bone organ.	
UBERON:0018667	neck of scapula	biolink:AnatomicalEntity	mondo			scapular neck|anatomical neck of scapula	http://purl.obolibrary.org/obo/UBERON_0018667		
UBERON:0004022	germinal neuroepithelium	biolink:AnatomicalEntity	mondo			germinal neuroepithelial layer|germinal neuroepithelium|original neural tube	http://purl.obolibrary.org/obo/UBERON_0004022	The single layer of epithelial cells that lines the early neural tube and develops into the nervous system and into the neural crest cells	
UBERON:0006682	hypoglossal canal	biolink:AnatomicalEntity	mondo			hyperglossal canal|canalis nervi hypoglossi|anterior condylar canal	http://purl.obolibrary.org/obo/UBERON_0006682	The hypoglossal canal is a bony canal in the occipital bone of the skull.	
NCBITaxon:6201	Cyclophyllidea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6201		
HGNC:2436	CSF2RB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2436		
NCBITaxon:6202	Taenia	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6202		
HGNC:32700	CCDC103	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/32700		
HGNC:19721	CANT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19721		
NCBITaxon:6200	Eucestoda	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6200		
HGNC:2433	CSF1R	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2433		
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	biolink:PhenotypicFeature	mondo	MSH:D003294|UMLS:C0009952|SNOMEDCT_US:41497008		Fever induced seizures|Seizures, febrile, in early childhood|Febrile seizures|Febrile convulsion|Seizures, generalized, associated with fever	http://purl.obolibrary.org/obo/HP_0002373	A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.	
UBERON:0004027	chorionic plate	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004027	That portion of the chorionic wall in the region of its uterine attachment, which gives rise to chorionic villi; it consists of the mesoderm that lines the chorionic vesicle and, on the maternal side, of the trophoblast that lines the intervillous spaces; in the last half of gestation, the mesodermal connective tissue is largely replaced by fibrinoid material, and the amnionic membrane is adherent to the fetal side of the plate.	
UBERON:0006686	spinal vein	biolink:AnatomicalEntity	mondo			spinal branch|vena spinalis	http://purl.obolibrary.org/obo/UBERON_0006686	A vein that is part of a vertebral column.	
NCBITaxon:6209	Echinococcus	organism taxon	mondo	PMID:18180956|PMID:16352465|PMID:18338180|PMID:17156584|PMID:12964823|GC_ID:1|PMID:12377596			http://purl.obolibrary.org/obo/NCBITaxon_6209		
NCBITaxon:6208	Taeniidae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6208		
HGNC:2439	CSF3R	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2439		
UBERON:0006671	orbital fat pad	biolink:AnatomicalEntity	mondo			retrobulbar fat|orbital fat|orbital fat body|intraorbital fat pad	http://purl.obolibrary.org/obo/UBERON_0006671	A fat pad that is part of a orbital region.	
UBERON:0006670	central tendon of diaphragm	biolink:AnatomicalEntity	mondo			central tendon|centrum tendineum diaphragmatis|centrum tendineum	http://purl.obolibrary.org/obo/UBERON_0006670	the three-lobed cloverleaf-shaped aponeurosis situated at the center of the diaphragm; the central tendon is fused with the fibrous pericardium that provides attachment for the muscle fibers	
NCBITaxon:6213	Echinococcus vogeli	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6213		
NCBITaxon:6210	Echinococcus granulosus	organism taxon	mondo	PMID:17156584|PMID:12964823|GC_ID:1|PMID:12377596|PMID:18180956|PMID:16352465|PMID:18338180		Echinococcus granulosus sheep strain|Echinococcus granulosus G1 strain|Echinococcus granulosus G2 strain|Echinococcus granulosus Tasmanian sheep strain|Echinococcus granulosus G3 strain|Echinococcus granulosus buffalo strain|Echinococcus granulosus sensu stricto|Echinococcus granulosus s. s.	http://purl.obolibrary.org/obo/NCBITaxon_6210		
NCBITaxon:6211	Echinococcus multilocularis	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6211		
UBERON:0004015	embryonic-extraembryonic boundary	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004015	The connection between the embryo proper and extraembryonic tissues	
HGNC:20716	KLC2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20716		
UBERON:0006677	surface of epithelium	biolink:AnatomicalEntity	mondo			epithelium surface	http://purl.obolibrary.org/obo/UBERON_0006677	An anatomical boundary that adjacent_to a epithelium.	
UBERON:0004016	dermatome	biolink:AnatomicalEntity	mondo			mesenchyma dermatomiale|epimere mesoderm|cutis plate|dermatomal mesenchyme	http://purl.obolibrary.org/obo/UBERON_0004016	A transitional population of migrating mesenchymal cells that derive from somites and that will become dermal cells.	
UBERON:0004014	labium minora	biolink:AnatomicalEntity	mondo			labium minus|labia minorum|labium minorum|labium minus pudendi|labium minora	http://purl.obolibrary.org/obo/UBERON_0004014	One of the folds of skin which form the inner lips on both sides of the vaginal opening	
HP:0002383	Encephalitis	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:45170000|UMLS:C0014038|MSH:D004660		Brain inflammation	http://purl.obolibrary.org/obo/HP_0002383		
UBERON:0006675	venous valve	biolink:AnatomicalEntity	mondo			valve of vein	http://purl.obolibrary.org/obo/UBERON_0006675	A valve that is part of a vein.	
UBERON:0018649	cardiac muscle tissue of ventricle	biolink:AnatomicalEntity	mondo			ventricular cardiac muscle tissue|ventricular muscle|ventricular heart muscle	http://purl.obolibrary.org/obo/UBERON_0018649		
NCBITaxon:42461	Opisthokonta incertae sedis	organism taxon	mondo	GC_ID:1		Fungi/Metazoa incertae sedis	http://purl.obolibrary.org/obo/NCBITaxon_42461		
UBERON:0004000	tarsal gland acinus	biolink:AnatomicalEntity	mondo			palpebral gland acinus|Meibomian gland acinus|acinus of tarsal gland	http://purl.obolibrary.org/obo/UBERON_0004000	A sac-like structure comprising a sebaceous gland.	
UBERON:0004001	olfactory bulb layer	biolink:AnatomicalEntity	mondo			cytoarchitectural part of olfactory bulb	http://purl.obolibrary.org/obo/UBERON_0004001	.	
UBERON:0006661	epicranial aponeurosis	biolink:AnatomicalEntity	mondo			galea aponeurotica; aponeurosis epicranialis|aponeurosis epicranialis|galea aponeurotica|epicranius aponeurosis|epicranial aponeurosis|galeal aponeurosis|galea aponeurosis|aponeurosis of epicranius|epicranial aponeurosis|cranial aponeurosis	http://purl.obolibrary.org/obo/UBERON_0006661	The galea aponeurotica (epicranial aponeurosis, aponeurosis epicranialis) is a tough layer of dense fibrous tissue which covers the upper part of the cranium; behind, it is attached, in the interval between its union with the Occipitales, to the external occipital protuberance and highest nuchal lines of the occipital bone; in front, it forms a short and narrow prolongation between its union with the Frontales. On either side it gives origin to the Auriculares anterior and superior; in this situation it loses its aponeurotic character, and is continued over the temporal fascia to the zygomatic arch as a layer of laminated areolar tissue. It is closely connected to the integument by the firm, dense, fibro-fatty layer which forms the superficial fascia of the scalp: it is attached to the pericranium by loose cellular tissue, which allows the aponeurosis, carrying with it the integument to move through a considerable distance.	
HP:0002354	Memory impairment	biolink:PhenotypicFeature	mondo	MSH:D008569|SNOMEDCT_US:55533009|UMLS:C0233794|UMLS:C0542476|UMLS:C0751295|SNOMEDCT_US:386807006		Memory problems|Memory loss|Poor memory|Memory impairment|Forgetfulness	http://purl.obolibrary.org/obo/HP_0002354	An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.	
UBERON:0006660	muscular coat	biolink:AnatomicalEntity	mondo			muscular layer|tunica muscularis|transverse muscular fibers|muscularis propria|tunica muscularis|muscularis layer|muscular coat|muscularis externa|tunica externa|muscularis	http://purl.obolibrary.org/obo/UBERON_0006660	A region of muscle in many organs in the vertebrate body, adjacent to the submucosa membrane. It is responsible for gut movement such as peristalsis.	
HGNC:19706	ADAMTSL4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19706		
UBERON:0004008	cerebellar plate	biolink:AnatomicalEntity	mondo			cerebellum plate|cerebellum roof plate	http://purl.obolibrary.org/obo/UBERON_0004008	The embryonic pseudostratified epithelium of the fourth cerebellar ventricle that eventually forms the vermis and ventral neuroepithelium	
NCBITaxon:149546	Histoplasma capsulatum var. duboisii	organism taxon	mondo	GC_ID:1		Histoplasma duboisii	http://purl.obolibrary.org/obo/NCBITaxon_149546		
HGNC:2457	CSNK2A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2457		
UBERON:0006668	carotid canal	biolink:AnatomicalEntity	mondo			canalis caroticus	http://purl.obolibrary.org/obo/UBERON_0006668	On the interior surface of the temporal bone, behind the rough surface of the apex, is the large circular aperture of the carotid canal, which ascends at first vertically, and then, making a bend, runs horizontally forward and medialward. It transmits into the cranium, the internal carotid artery, and the carotid plexus of nerves. Sympathetics to the head also pass through the carotid canal. They have several motor functions: raise the eyelid (superior tarsal muscle), dilate pupil, innervate sweat glands of face and scalp and constricts blood vessels in head[WP].	
UBERON:0006666	great cerebral vein	biolink:AnatomicalEntity	mondo			great cerebral vein of Galen|great cerebral vein|vein of Galen	http://purl.obolibrary.org/obo/UBERON_0006666	The great cerebral vein is one of the large blood vessels in the skull draining the cerebrum (brain)[WP,unvetted]	
HP:0002352	Leukoencephalopathy	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:22811006|UMLS:C0270612|MSH:D056784			http://purl.obolibrary.org/obo/HP_0002352	This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.	
HGNC:2452	CSNK1D	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2452		
HP:0002350	Cerebellar cyst	biolink:PhenotypicFeature	mondo	UMLS:C1847762		Cerebellar cysts	http://purl.obolibrary.org/obo/HP_0002350		
UBERON:0006652	muscular layer of vagina	biolink:AnatomicalEntity	mondo			tunica muscularis vaginae|vaginal muscularis|muscular coat of vagina	http://purl.obolibrary.org/obo/UBERON_0006652		
UBERON:0006650	tunica vaginalis testis	biolink:AnatomicalEntity	mondo			tunica vaginalis of testis|processus vaginalis testis|testis tunica vaginalis|lamina parietalis|lamina visceralis|tunica vaginalis|tunica vaginalis testis	http://purl.obolibrary.org/obo/UBERON_0006650	the outer coelomic epithelial covering of the testis; a sac of serous tissue covering the testis and the epididymis within which the testis can move about; it covers the tunica albuginea	
HGNC:19714	DDHD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19714		
HGNC:2468	SMC3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2468		
UBERON:0006658	interphalangeal joint	biolink:AnatomicalEntity	mondo			inter-phalangeal joint|inter-phalanx joint	http://purl.obolibrary.org/obo/UBERON_0006658	A joint that connects one phalanx to another along a proximodistal axis.	
UBERON:0006657	glenoid fossa	biolink:AnatomicalEntity	mondo			glenoid cavity of scapula|glenoid cavity|cavitas glenoidalis scapulae|glenoid facet|cavitus glenoidalis|cavitas glenoidalis|glenoid cavity	http://purl.obolibrary.org/obo/UBERON_0006657	Anatomical cavity for the proximal articular surface of the proximal limb or fin element with the scapulocoracoid or equivalent structure.	
HP:0100957	Abnormal renal medulla morphology	biolink:PhenotypicFeature	mondo	UMLS:C4021911		Abnormality of the renal medulla	http://purl.obolibrary.org/obo/HP_0100957	Any structural abnormality of the medulla of the kidney.	
HGNC:2464	VCAN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2464		
HP:0002360	Sleep disturbance	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:53888004|UMLS:C0037317		Sleep disturbances|Sleep dysfunction|Trouble sleeping|Difficulty sleeping	http://purl.obolibrary.org/obo/HP_0002360	An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness.	
UBERON:0006653	glans clitoris	biolink:AnatomicalEntity	mondo			glans clitoridis|clitoris glans|glans clitoris|glans of clitoris	http://purl.obolibrary.org/obo/UBERON_0006653	Erectile tissue at the end of the clitoris, which is continuous with the intermediate part of the vestibulovaginal bulbs[BTO]. The clitoral glans (glans clitoridis) is an external portion of the clitoris[WP].	
HP:0100963	Hyperesthesia	biolink:PhenotypicFeature	mondo	UMLS:C0020453|MSH:D006941|SNOMEDCT_US:14151009		Hyperaesthesia	http://purl.obolibrary.org/obo/HP_0100963		
MONDO:0007429	optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	biolink:Disease	mondo	UMLS:C3276549|OMIM:125250|Orphanet:3212|GARD:0009897		optic atrophy 1 and deafness|optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy|dominant optic atrophy plus syndrome	http://purl.obolibrary.org/obo/MONDO_0007429		http://identifiers.org/omim/125250|UMLS:C3276549|ORPHA:3212
MONDO:0007427	deafness with anhidrotic ectodermal dysplasia	biolink:Disease	mondo	UMLS:C1852279|OMIM:125050|MESH:C565119		deafness with anhidrotic ectodermal dysplasia	http://purl.obolibrary.org/obo/MONDO_0007427		http://identifiers.org/omim/125050|MESH:C565119|UMLS:C1852279
MONDO:0007428	deafness-craniofacial syndrome	biolink:Disease	mondo	MESH:C565118|UMLS:C1852278|OMIM:125230|GARD:0001686|SCTID:716245003|ICD10:Q87.0|Orphanet:3241	gard_rare|ordo_malformation_syndrome	deafness-craniofacial syndrome|deafness craniofacial syndrome	http://purl.obolibrary.org/obo/MONDO_0007428	Deafness-craniofacial syndrome is characterised by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant.	http://identifiers.org/omim/125230|SNOMEDCT:716245003|MESH:C565118|UMLS:C1852278|ORPHA:3241
MONDO:0007425	deafness, sensorineural, with peripheral neuropathy and arterial disease	biolink:Disease	mondo	OMIM:124950|MESH:C565120|UMLS:C1852280		deafness, sensorineural, with peripheral neuropathy and arterial disease	http://purl.obolibrary.org/obo/MONDO_0007425		MESH:C565120|http://identifiers.org/omim/124950|UMLS:C1852280
NCBITaxon:6236	Rhabditida	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6236		
MONDO:0007426	deafness, unilateral	biolink:Disease	mondo	OMIM:125000|MESH:C567079|UMLS:C2607947		deafness, unilateral	http://purl.obolibrary.org/obo/MONDO_0007426		UMLS:C2607947|http://identifiers.org/omim/125000|MESH:C567079
MONDO:0020401	congenital unguarded mitral orifice	biolink:Disease	mondo	ICD10:Q23.3|Orphanet:99060	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0020401	Congenital unguarded mitral orifice is a rare, congenital, mitral valve malformation characterized by complete absence of mitral valve leaflets and tensor apparatus at the mitral annulus, which can present clinically with cyanosis, heart murmur, electrocardiogram abnormalities, mild cardiomegaly, or congestive heart failure. Association with heterotaxy, discordant atrioventricular connections, double-outlet right ventricle, pulmonary atresia or stenosis, thin left ventricular wall, and hypoplastic left heart syndrome has been reported.	ORPHA:99060
MONDO:0007423	deafness, mid-tone neural	biolink:Disease	mondo	MESH:C565122|UMLS:C1852283|OMIM:124700		deafness, mid-tone neural	http://purl.obolibrary.org/obo/MONDO_0007423		MESH:C565122|http://identifiers.org/omim/124700|UMLS:C1852283
MONDO:0020400	congenital supravalvular mitral ring	biolink:Disease	mondo	Orphanet:99059|ICD10:Q23.2	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0020400	Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported.	ORPHA:99059
MONDO:0007424	autosomal dominant nonsyndromic deafness 1	biolink:Disease	mondo	MESH:C565121|DOID:0110541|UMLS:C1852282|ICD10:H90.3|OMIM:124900		deafness, progressive Low tone|deafness, autosomal dominant 1; DFNA1|deafness, autosomal dominant 1|autosomal dominant deafness 1|DIAPH1 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant type 1|hereditary low frequency hearing loss 1|LFHL1|autosomal dominant nonsyndromic deafness type 1|deafness, autosomal dominant 1, with or without thrombocytopenia|autosomal dominant nonsyndromic deafness caused by mutation in DIAPH1|DFNA1|hereditary Low frequency hearing loss|Konigsmark syndrome	http://purl.obolibrary.org/obo/MONDO_0007424	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIAPH1 gene.	MESH:C565121|http://identifiers.org/omim/124900|DOID:0110541|UMLS:C1852282
MONDO:0007421	deafness-ear malformation-facial palsy syndrome	biolink:Disease	mondo	SCTID:716243005|OMIM:124490|MESH:C565123|Orphanet:3232|ICD10:Q87.0	ordo_malformation_syndrome	Sellars-Beighton syndrome|deafness, conductive stapedial, with EAR malformation and facial palsy	http://purl.obolibrary.org/obo/MONDO_0007421	Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant.	http://identifiers.org/omim/124490|MESH:C565123|SNOMEDCT:716243005|ORPHA:3232
MONDO:0007422	keratoderma hereditarium mutilans	biolink:Disease	mondo	ICD9:757.39|ICD10:Q82.8|SCTID:24559001|DOID:0111339|MESH:C536457|GARD:0003092|Orphanet:494|OMIM:124500	ordo_disease	mutilating keratoderma of Vohwinkel|PPK mutilans and deafness|VOWNKL|keratoderma hereditarium mutilans|KHM|mutilating keratoderma plus deafness|Vohwinkel syndrome; VOWNKL|Vohwinkel syndrome|mutilating keratoderma|deafness, congenital, with KERATOPACHYDERMIA and constrictions of fingers and toes	http://purl.obolibrary.org/obo/MONDO_0007422		MESH:C536457|http://identifiers.org/omim/124500|ORPHA:494|DOID:0111339|UMLS:C0265964|SNOMEDCT:24559001
MONDO:0007420	autosomal dominant deafness - onychodystrophy syndrome	biolink:Disease	mondo	GARD:0004732|OMIM:124480|Orphanet:79499|UMLS:C2675730|ICD10:Q87.8	ordo_malformation_syndrome|gard_rare	deafness-onychodystrophy syndrome, autosomal dominant|Robinson Miller Bensimon syndrome|deafness, congenital, with onychodystrophy, autosomal dominant|Robinson-Miller-Bensimon syndrome|DDOD syndrome|deafness, congenital, with onychodystrophy, autosomal dominant; DDOD|deafness, congenital, and onychodystrophy, autosomal dominant; DDOD|deafness, congenital, and onychodystrophy, autosomal dominant|DDOD|Ddod syndrome|deafness and onychodystrophy, dominant form|autosomal dominant deafness-onychodystrophy syndrome|familial ectodermal dysplasia with sensori-neural deafness and other anomalies	http://purl.obolibrary.org/obo/MONDO_0007420	Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.	http://identifiers.org/omim/124480|UMLS:C2675730|ORPHA:79499
UBERON:0004066	frontonasal prominence	biolink:AnatomicalEntity	mondo			frontonasal mass|prominentia frontonasalis|forebrain prominence|embryonic frontonasal prominence|frontonasal process	http://purl.obolibrary.org/obo/UBERON_0004066	The unpaired embryonic prominence that is formed by the tissues surrounding the forebrain vesicle and develops into the forehead and bridge of the nose/snout.	
HGNC:2472	CSRP3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2472		
MONDO:0019419	X-linked intellectual disability-macrocephaly-macroorchidism syndrome	biolink:Disease	mondo	SCTID:719825000|ICD10:Q87.8|Orphanet:85320|UMLS:CN206174	ordo_malformation_syndrome	Johnson syndrome	http://purl.obolibrary.org/obo/MONDO_0019419	X-linked intellectual disability-macrocephaly-macroorchidism syndrome is characterised by intellectual deficit affecting both sexes, macrocephaly, and macroorchidism in the majority of affected males. It has been described in 12 individuals from two generations of one family. Other males from this family did not display intellectual deficit but did present macroorchidism and macrocephaly. Transmission is X-linked and the causative gene has been localised to the q12-q21 region of the X chromosome.	SNOMEDCT:719825000|ORPHA:85320|UMLS:CN206174
UBERON:0004067	lateral nasal prominence	biolink:AnatomicalEntity	mondo			lateral nasal swelling|lateral nasal process|latero-nasal process|prominentia nasalis lateralis	http://purl.obolibrary.org/obo/UBERON_0004067	The lateral area of the two branches of a horseshoe-shaped mesenchymal swelling in the future nasal region of the embryo; it separates the olfactory pit from the developing eye and the ala of the nose/snout develops from it	
UBERON:0004064	neural tube basal plate	biolink:AnatomicalEntity	mondo			ventral part of neural tube|spinal cord basal plate|motor part of neural tube|basal plate of neural tube|basal plate	http://purl.obolibrary.org/obo/UBERON_0004064	The region of the mantle layer of the neural tube that lies ventral to the sulcus limitans and contains primarily motor neurons and interneurons.	
MONDO:0019416	X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome	biolink:Disease	mondo	Orphanet:85317|ICD10:Q87.8|UMLS:CN206172	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0019416	X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23.	ORPHA:85317|UMLS:CN206172
UBERON:0004062	neural tube marginal layer	biolink:AnatomicalEntity	mondo			neural tube marginal zone|brain marginal zone	http://purl.obolibrary.org/obo/UBERON_0004062	The outermost layer of the neural tube that consists of axons from the developing mantle layer and will form the white matter	
MONDO:0019415	fetal and neonatal alloimmune thrombocytopenia	biolink:Disease	mondo	Orphanet:853|ICD10:P61.0|GARD:0002295|SCTID:240305000	gard_rare|ordo_disease	NAIT	http://purl.obolibrary.org/obo/MONDO_0019415	Fetal and neonatal alloimmune thrombocytopenia (NAIT) is a blood disorder that affects pregnant women and their babies. NAIT was first reported in the literature in 1953 and is estimated to occur in as many as 1 in 1200 live births. NAIT results in the destruction of platelets in the fetus or infant due to a mismatch between the mother's platelets and those of the baby. Certain molecules (antigens) on the surface of the baby's platelets are recognized as foreign by the mother's immune system. The mother's immune system then creates antibodies that attack and destroy the baby's platelets. Though NAIT can occur whenever the mother's blood mixes with that of the baby, it is usually triggered when the mother is exposed to the baby's blood during delivery. Many cases of NAIT are mild. Signs and symptoms may include a low platelet count (thrombocytopenia) and signs of bleeding into the skin such as petechiae and purpura. In the most severe cases, NAIT can cause bleeding episodes that may result in death or long-term disability. Bleeding episodes can occur either during pregnancy or after birth. Management of the infant with neonatal alloimmune thrombocytopenia may include platelet transfusions, ultrasounds, and intravenous immunoglobulin (IVIG). Treatment for pregnant mothers at risk for NAIT may include IVIG and steroids.	ORPHA:853|SNOMEDCT:240305000
UBERON:0004060	neural tube ventricular layer	biolink:AnatomicalEntity	mondo			neural tube ventricular zone|neural tube ventricular germinal zone|neural tube ependymal layer|ependymal layer|neural tube ependymal zone	http://purl.obolibrary.org/obo/UBERON_0004060	The layer of undifferentiated, proliferating cells that line the neural tube lumen that is the immediate transformation of the germinal neuroepithelium	
MONDO:0019418	X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome	biolink:Disease	mondo	ICD10:Q87.8|UMLS:CN206173|Orphanet:85319	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0019418	X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterised by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked.	ORPHA:85319|UMLS:CN206173
MONDO:0019417	X-linked intellectual disability-precocious puberty-obesity syndrome	biolink:Disease	mondo	Orphanet:85318|ICD10:Q87.8|UMLS:CN227629	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0019417	X-linked intellectual disability-precocious puberty-obesity syndrome is characterised by moderate intellectual deficit and precocious puberty. It has been described in three males from two generations of one Australian family. Morbid obesity was noted in the mothers of the patients. Transmission is X-linked.	UMLS:CN227629|ORPHA:85318
UBERON:0004061	neural tube mantle layer	biolink:AnatomicalEntity	mondo			neural tube intermediate zone|future brain marginal layer	http://purl.obolibrary.org/obo/UBERON_0004061	The layer of glia and differentiating neurons that forms as a second layer around the germinal neuroepithium; as this develops it comes to lie between the ventricular and marginal layers and includes the basal and alar plates. Develops into neurons and glia forming a gray matter layer.	
MONDO:0019412	dysspondyloenchondromatosis	biolink:Disease	mondo	ICD10:Q78.4|Orphanet:85198|UMLS:C4302548|SCTID:722434004	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0019412	Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.	ORPHA:85198|UMLS:C4302548|SNOMEDCT:722434004
MONDO:0019411	genochondromatosis type 1	biolink:Disease	mondo	ICD10:Q78.4|Orphanet:85197	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019411	Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course.	ORPHA:85197
NCBITaxon:6246	Strongyloididae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6246		
MONDO:0019414	BRESEK syndrome	biolink:Disease	mondo	MESH:C564519|Orphanet:85284|UMLS:C3502469|SCTID:717945001|ICD10:Q87.8	ordo_malformation_syndrome	BRESHECK syndrome	http://purl.obolibrary.org/obo/MONDO_0019414	X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).	UMLS:C3502469|ORPHA:85284|MESH:C564519|SNOMEDCT:717945001
MONDO:0019413	ischio-vertebral syndrome	biolink:Disease	mondo	ICD10:Q77.8|UMLS:C4274732|Orphanet:85200|UMLS:CN206143|SCTID:715654001	ordo_malformation_syndrome	ischio-vertebral dysplasia|ischio-spinal dysostosis	http://purl.obolibrary.org/obo/MONDO_0019413	Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism.	ORPHA:85200|UMLS:CN206143|SNOMEDCT:715654001|UMLS:C4274732
HGNC:2475	CST3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2475		
MONDO:0019410	obsolete nodulosis-arthropathy-osteolysis syndrome	biolink:Disease	mondo	ICD10:M89.5|UMLS:CN206138|Orphanet:85196	ordo_clinical_subtype	multicentric osteolysis-nodulosis-arthropathy syndrome|NAO syndrome	http://purl.obolibrary.org/obo/MONDO_0019410		UMLS:CN206138|ORPHA:85196
UBERON:0004068	medial nasal prominence	biolink:AnatomicalEntity	mondo			medial nasal swelling|nasomedial prominence|medial-nasal process|medial nasal process|prominentia nasalis medialis	http://purl.obolibrary.org/obo/UBERON_0004068	The central area of the two limbs of a horseshoe-shaped mesenchymal swelling that lie medial to the olfactory placode or pit in the future nasal region of the embryo; it joins with the ipsilateral maxillary prominence in the formation of half of the upper jaw, and the nasal tip and philtrum of the upper lip develop from it	
MONDO:0007438	dentin dysplasia-sclerotic bones syndrome	biolink:Disease	mondo	Orphanet:99792|OMIM:125440|MESH:C538213|ICD10:K00.5|UMLS:C1852201|GARD:0001808	ordo_disease	dentin dysplasia sclerotic bones|sclerotic bones with dentin dysplasia|dentin dysplasia with sclerotic bones	http://purl.obolibrary.org/obo/MONDO_0007438	Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977.	http://identifiers.org/omim/125440|ORPHA:99792|UMLS:C1852201|MESH:C538213
NCBITaxon:6249	Ascaridomorpha	organism taxon	mondo	GC_ID:1		Ascaridida	http://purl.obolibrary.org/obo/NCBITaxon_6249		
UBERON:0018692	dorsal side of post-anal tail	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0018692		
MONDO:0007439	deoxyribose-5-phosphate aldolase deficiency	biolink:Disease	mondo	MESH:C565112|OMIM:125460|UMLS:C1852200		deoxyribose-5-phosphate aldolase deficiency	http://purl.obolibrary.org/obo/MONDO_0007439		http://identifiers.org/omim/125460|MESH:C565112|UMLS:C1852200
MONDO:0007436	dentin dysplasia type I	biolink:Disease	mondo	MESH:C531665|OMIM:125400|SCTID:109493006|MESH:C538215|ICD9:520.5|GARD:0001807|Orphanet:99789|UMLS:C0399379|ICD10:K00.5	ordo_clinical_subtype|gard_rare	dentin dysplasia, type I, with extreme microdontia and misshapen teeth|DTDP1|dentin dysplasia, type I; DTDP1|dentin dysplasia, type 1|dentin dysplasia, Shields type 1|DD-I|rootless teeth|dentin dysplasia, type I|radicular dentin dysplasia	http://purl.obolibrary.org/obo/MONDO_0007436	Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD) characterized by sharp conical short roots or rootless teeth.	ORPHA:99789|http://identifiers.org/omim/125400|SNOMEDCT:109493006|MESH:C531665|UMLS:C0399379|MESH:C538215
NCBITaxon:6247	Strongyloides	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6247		
NCBITaxon:6248	Strongyloides stercoralis	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6248		
MONDO:0007437	dentin dysplasia type II	biolink:Disease	mondo	Orphanet:99791|OMIM:125420|ICD10:K00.5|SCTID:109494000|ICD9:520.5|GARD:0001806	ordo_clinical_subtype	pulpal dysplasia|dentin dyspalsia, Shields type 2|Dtdp2|dentin dysplasia, Shields type 2|DTDP2|pulp stones|dentin dysplasia, coronal|dentin dysplasia, type II|dentin dysplasia, type 2|coronal dentin dysplasia|anomalous dysplasia of dentin|dentin dysplasia, type II; DTDP2|DD-II	http://purl.obolibrary.org/obo/MONDO_0007437	Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD) characterized by normal tooth roots but abnormal primary dentition.	http://identifiers.org/omim/125420|ORPHA:99791|SNOMEDCT:109494000
UBERON:0018691	ventral side of post-anal tail	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0018691		
MONDO:0007434	primary failure of tooth eruption	biolink:Disease	mondo	MESH:C565114|Orphanet:412206|UMLS:C1852222|ICD10:K00.8|DOID:0111341|OMIM:125350	ordo_disease	primary failure of eruption, nonsyndromic|posterior Openbite malocclusion, familial|failure of tooth eruption, primary; PFE|failure of tooth eruption, primary|unerupted second primary molar|primary retention of teeth|dental noneruption|PFE	http://purl.obolibrary.org/obo/MONDO_0007434		MESH:C565114|DOID:0111341|UMLS:C1852222|ORPHA:412206|http://identifiers.org/omim/125350
MONDO:0007435	dentatorubral-pallidoluysian atrophy	biolink:Disease	mondo	ICD9:333.99|GARD:0005643|ICD10:G11.8|OMIM:125370|DOID:0060162|Orphanet:101|UMLS:C0751781|SCTID:68116008|NCIT:C122653	ordo_disease|gard_rare	haw River syndrome|DRPLA|ataxia, chorea, seizures, and dementia|dentatorubral pallidoluysian atrophy|Dentatorubropallidoluysian atrophy|NOD|myoclonic epilepsy with choreoathetosis|DRPLA|dentatorubral-pallidoluysian atrophy|Naito-Oyanagi disease|Naito Oyanagi disease|dentatorubral-pallidoluysian atrophy; DRPLA	http://purl.obolibrary.org/obo/MONDO_0007435	Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation.	ORPHA:101|UMLS:C0751781|SNOMEDCT:68116008|DOID:0060162|NCIT:C122653|http://identifiers.org/omim/125370
MONDO:0007432	cerebral arteriopathy with subcortical infarcts and leukoencephalopathy	biolink:Disease	mondo	ICD9:323.9|OMIMPS:125310|ICD9:447.8	prototype_pattern|ordo_disease	Casil|dementia, hereditary multi-infarct type|cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy|cerebral arteriopathy with subcortical infaracts and leukoencephalopathy|CADASIL|cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy; CADASIL	http://purl.obolibrary.org/obo/MONDO_0007432		
MONDO:0007433	dementia/parkinsonism with non-Alzheimer amyloid plaques	biolink:Disease	mondo	OMIM:125320|UMLS:C1852223|MESH:C565115		dementia/parkinsonism with non-Alzheimer amyloid plaques	http://purl.obolibrary.org/obo/MONDO_0007433		MESH:C565115|UMLS:C1852223|http://identifiers.org/omim/125320
MONDO:0007430	dens evaginatus	biolink:Disease	mondo	SCTID:63691004|OMIM:125280		dens evaginatus	http://purl.obolibrary.org/obo/MONDO_0007430		SNOMEDCT:63691004|http://identifiers.org/omim/125280
MONDO:0007431	dens in dente and palatal invaginations	biolink:Disease	mondo	GARD:0010069|UMLS:C1852250|MESH:C538211|OMIM:125300		dens in dente and palatal INVAGINATIONS	http://purl.obolibrary.org/obo/MONDO_0007431		UMLS:C1852250|MESH:C538211|http://identifiers.org/omim/125300
MONDO:0019409	idiopathic juvenile osteoporosis	biolink:Disease	mondo	ICD9:733.02|SCTID:3345002|GARD:0006760|Orphanet:85193|NCIT:C119996|OMIM:259750|DOID:12559|UMLS:CN536248|MESH:C537700|ICD10:M81.5	ordo_malformation_syndrome	idiopathic osteoporosis|Ijo|Pediatric osteoporosis|osteoporosis, juvenile|juvenile osteoporosis|idiopathic juvenile osteoporosis	http://purl.obolibrary.org/obo/MONDO_0019409	Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis.	NCIT:C119996|http://identifiers.org/omim/259750|ORPHA:85193|MESH:C537700|SNOMEDCT:3345002|DOID:12559|UMLS:CN536248
MONDO:0019408	Astley-Kendall dysplasia	biolink:Disease	mondo	MESH:C535392|GARD:0009220|ICD10:Q77.3|UMLS:C1300228|Orphanet:85175|SCTID:389263004	ordo_malformation_syndrome	Astley-Kendall syndrome|short limbed dwarfism with extensive stippling	http://purl.obolibrary.org/obo/MONDO_0019408	Astley-Kendall dysplasia is a lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases.	ORPHA:85175|MESH:C535392|UMLS:C1300228|SNOMEDCT:389263004
HGNC:2482	CSTB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2482		
UBERON:0004053	external male genitalia	biolink:AnatomicalEntity	mondo			male external genitalia|organa genitalia masculina externa|external male genital organ	http://purl.obolibrary.org/obo/UBERON_0004053	The external masculine genital organs, including the penis and scrotum	
HGNC:2481	CSTA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2481		
UBERON:0004054	internal male genitalia	biolink:AnatomicalEntity	mondo			male internal genitalia|organa genitalia masculina interna|internal male genital organ	http://purl.obolibrary.org/obo/UBERON_0004054	The internal masculine genital organs, including the testes, epididymides, deferent ducts, seminal vesicles, prostate, ejaculatory ducts, and bulbourethral glands	
MONDO:0019405	facial onset sensory and motor neuronopathy	biolink:Disease	mondo	SCTID:723306004|UMLS:CN206118|GARD:0012036|ICD10:G60.0|Orphanet:85162	gard_rare|ordo_disease	facial onset sensory and motor neuronopathy syndrome|FOSMN syndrome|facial onset sensorimotor neuronopathy syndrome	http://purl.obolibrary.org/obo/MONDO_0019405	Facial onset sensory and motor neuronopathy is characterised initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease.	SNOMEDCT:723306004|ORPHA:85162|UMLS:CN206118
MONDO:0019404	perineurioma	biolink:Disease	mondo	ICDO:9571/0|UMLS:C0751691|ICD9:215.9|GARD:0012698|SCTID:404036006|DOID:4697|Orphanet:85102|ICD10:C47.9|NCIT:C4973	ordo_group_of_disorders|gard_rare	perineurioma|soft tissue perineurioma	http://purl.obolibrary.org/obo/MONDO_0019404	A usually benign perineurioma not associated with a nerve, arising from the soft tissues.	ORPHA:85102|DOID:4697|UMLS:C0751691|SNOMEDCT:404036006|NCIT:C4973
MONDO:0019407	microcephalic osteodysplastic dysplasia, Saul-Wilson type	biolink:Disease	mondo	Orphanet:85172|OMIM:618150|DOID:0111673|ICD10:Q78.8	ordo_disease	microcephalic osteodysplastic dysplasia, Saul-Wilson type|Saul-Wilson syndrome; SWILS|SWILS|microcephalic osteodysplastic dysplasia|Saul-Wilson syndrome	http://purl.obolibrary.org/obo/MONDO_0019407	A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has material basis in heterozygous mutation in COG4 on chromosome 16q22.1.	ORPHA:85172|http://identifiers.org/omim/618150|DOID:0111673
NCBITaxon:162474	Malasseziales	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_162474		
MONDO:0019406	craniofacial conodysplasia	biolink:Disease	mondo	Orphanet:85168|ICD10:Q87.5	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0019406	Craniofacial conodysplasia is characterised by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait.	ORPHA:85168
MONDO:0019401	sporadic idiopathic steroid-resistant nephrotic syndrome	biolink:Disease	mondo	ICD10:N04.3|ICD10:N04.1|UMLS:C4274017|SCTID:717191005|Orphanet:84271|ICD10:N04.8	ordo_clinical_syndrome	sporadic idiopathic nephrosis	http://purl.obolibrary.org/obo/MONDO_0019401	Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterised by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema.	ORPHA:84271|SNOMEDCT:717191005|UMLS:C4274017
MONDO:0019400	obsolete testicular seminomatous germ cell tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019400		
MONDO:0019403	congenital dyserythropoietic anemia	biolink:Disease	mondo	MESH:D000742|UMLS:C0002876|SCTID:52951008|OMIMPS:224120|GARD:0001999|ICD9:285.8|NCIT:C84646|ICD10:D64.4|DOID:1338|Orphanet:85	ordo_group_of_disorders	dyserythropoietic anemia, congenital|anemia, congenital dyserythropoietic|CDA|congenital dyshaematopoietic anaemia	http://purl.obolibrary.org/obo/MONDO_0019403	Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA.	UMLS:C0002876|MESH:D000742|DOID:1338|SNOMEDCT:52951008|ORPHA:85|NCIT:C84646
MONDO:0019402	beta thalassemia	biolink:Disease	mondo	MESH:D017086|COHD:4278669|GARD:0000871|SCTID:65959000|MedDRA:10043391|Orphanet:848|ICD9:282.49|NCIT:C34375|ICD10:D56.1|ICD9:282.44|DOID:12241	ordo_disease	erythroblastic anemia|Thalassemias, beta-|thalassemia major|Beta thalassemia minor|Beta thalassemia intermedia|thalassemia, Hispanic gamma-delta-beta	http://purl.obolibrary.org/obo/MONDO_0019402	Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb).	SNOMEDCT:65959000|NCIT:C34375|ORPHA:848|DOID:12241|MESH:D017086|UMLS:C0005283|MEDDRA:10043391
HGNC:2488	NKX2-5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2488		
NCBITaxon:6252	Ascaris lumbricoides	organism taxon	mondo	GC_ID:1		common roundworm	http://purl.obolibrary.org/obo/NCBITaxon_6252		
NCBITaxon:6250	Ascarididae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6250		
UBERON:0004058	biliary ductule	biolink:AnatomicalEntity	mondo			terminal cholangiole|bile ductule|bile capillary|biliary ductule|ductuli biliferi|cholangiole|biliary ductule	http://purl.obolibrary.org/obo/UBERON_0004058	One of the fine terminal elements of the bile duct system, leaving the portal canal, and pursuing a course at the periphery of a lobule of the liver[BTO]. the excretory ducts of the liver that connect the interlobular ductules to the right or left hepatic duct[MP]	
NCBITaxon:6251	Ascaris	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6251		
MONDO:0007409	cryptomicrotia-brachydactyly-excess fingertip arch syndrome	biolink:Disease	mondo	ICD10:Q87.8|OMIM:123560|MESH:C536219|Orphanet:1547|GARD:0008174|SCTID:725096002|UMLS:C1852454	ordo_malformation_syndrome	CRYPTOMICROTIA-brachydactyly syndrome|Cryptomicrotia brachydactyly syndrome|Cryptomicrotia-brachydactyly syndrome|Cryptomicrotia brachydactyly syndrome excess fingertip arch|Tonoki Ohura Niikawa syndrome|Tonoki-Ohura-Niikawa syndrome|bilateral cryptomicrotia, brachytelomesophalangy, hypoplastic toe nails, and excess fingertip arch	http://purl.obolibrary.org/obo/MONDO_0007409	Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988.	UMLS:C1852454|SNOMEDCT:725096002|MESH:C536219|ORPHA:1547|http://identifiers.org/omim/123560
MONDO:0007407	Cryoglobulinemic vasculitis	biolink:Disease	mondo	ICD10:D89.1|MedDRA:10027756|OMIM:123550|GARD:0006386|ICD9:273.2|Orphanet:91138|UMLS:C0343208|UMLS:C1852456|SCTID:190815001|UMLS:C0272258|MESH:C565141|UMLS:C0340992	ordo_disease	essential mixed cryoglobulinemia|mixed cryoglobulinemia|essential cryoglobulinemia|Meltzer syndrome|familial mixed cryoglobulinemia|primary cryoglobulinemia|cryoglobulinemia, familial mixed|MC	http://purl.obolibrary.org/obo/MONDO_0007407	Mixed cryoglobulinemia (MC) is a rare multisystem disease characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifested clinically by a classical triad of purpura, weakness and arthralgia.	UMLS:C0340992|MEDDRA:10027756|UMLS:C0272258|ORPHA:91138|UMLS:C0543697|UMLS:C0343208|MESH:C565141|http://identifiers.org/omim/123550|SNOMEDCT:190815001|UMLS:C1852456
MONDO:0007408	cryptotia, familial	biolink:Disease	mondo	OMIM:123557|UMLS:C1852455|MESH:C565140		cryptotia, familial	http://purl.obolibrary.org/obo/MONDO_0007408		UMLS:C1852455|MESH:C565140|http://identifiers.org/omim/123557
MONDO:0007405	Crouzon syndrome	biolink:Disease	mondo	MESH:D003394|DOID:2339|Orphanet:207|NCIT:C84653|OMIM:123500|UMLS:CN200892|GARD:0006206|ICD10:Q75.1|SCTID:28861008	gard_rare|ordo_malformation_syndrome	Crouzon craniofacial dysostosis|Crouzon syndrome|craniofacial dysostosis, type 1|craniofacial dysostosis type 1|Crouzon's disease|Crouzon disease|craniofacial dysostosis|Cfd1	http://purl.obolibrary.org/obo/MONDO_0007405	Crouzon disease is characterized by craniosynostosis and facial hypoplasia.	NCIT:C84653|MESH:D003394|SNOMEDCT:28861008|ORPHA:207|UMLS:CN200892|http://identifiers.org/omim/123500|DOID:2339
MONDO:0007406	cryofibrinogenemia, familial primary	biolink:Disease	mondo	OMIM:123540|MESH:C565142|UMLS:C1852457		cryofibrinogenemia, familial primary	http://purl.obolibrary.org/obo/MONDO_0007406		MESH:C565142|http://identifiers.org/omim/123540|UMLS:C1852457
MONDO:0007403	inherited Creutzfeldt-Jakob disease	biolink:Disease	mondo	SCTID:715807002|ICD10:A81.0|OMIM:123400|UMLS:CN202816|Orphanet:282166	ordo_disease	Creutzfeldt-Jakob disease, variant|Creutzfeldt-Jakob disease, familial|Creutzfeldt-Jakob disease, sporadic|inherited CJD|Creutzfeldt-Jakob disease; CJD|hereditary Creutzfeldt Jacob disease|Creutzfeldt-Jakob disease|Creutzfeldt-Jakob disease, Heidenhain variant|CJD	http://purl.obolibrary.org/obo/MONDO_0007403	Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia.	SNOMEDCT:715807002|UMLS:CN202816|ORPHA:282166|http://identifiers.org/omim/123400
MONDO:0007404	Cri-du-chat syndrome	biolink:Disease	mondo	GARD:0006213|UMLS:CN776901|NCIT:C34518|DOID:12580|ICD10:Q93.4|MedDRA:10011385|SCTID:70173007|ICD9:758.39|Orphanet:281|ICD9:758.31|UMLS:C0010314|MESH:D003410|OMIM:123450	ordo_malformation_syndrome	deletion 5p|monosomy 5p|chromosome 5p- syndrome|5p minus syndrome|5p partial monosomy syndrome|chromosome 5p deletion syndrome|5p deletion syndrome|chromosome 5P deletion syndrome|Cat-Cry syndrome|Cri-du-chat syndrome|monosomy type 5p|5p- syndrome|chromosome 5 short arm deletion syndrome|Cri du chat syndrome|Cat Cry syndrome	http://purl.obolibrary.org/obo/MONDO_0007404	Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.	MESH:D003410|MESH:C538482|MEDDRA:10011385|NCIT:C34518|ORPHA:281|SNOMEDCT:70173007|http://identifiers.org/omim/123450|UMLS:C0010314|DOID:12580|UMLS:CN776901|UMLS:C2931860
MONDO:0007401	craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome	biolink:Disease	mondo	GARD:0000998|MESH:C563973|OMIM:123155|ICD10:Q03.1|SCTID:720813007|UMLS:CN199608|ICD10:Q75.0|GARD:0001592|Orphanet:1538	gard_rare|ordo_malformation_syndrome	sagittal craniosynostosis, Dandy-Walker malformation and hydrocephalus|Braddock Jones Superneau syndrome|Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus|hydrocephalus, autosomal dominant|HDCPH1|hydrocephalus, autosomal dominant; HDCPH1|craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome|Braddock-Jones-Superneau syndrome	http://purl.obolibrary.org/obo/MONDO_0007401	Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant.	ORPHA:1538|http://identifiers.org/omim/123155|UMLS:CN199608|SNOMEDCT:720813007|MESH:C563973
MONDO:0007402	creatine phosphokinase, elevated serum	biolink:Disease	mondo	OMIM:123320		creatine phosphokinase, elevated serum|hyperCKemia, idiopathic|CPK, elevated serum	http://purl.obolibrary.org/obo/MONDO_0007402		http://identifiers.org/omim/123320
MONDO:0007400	Jackson-Weiss syndrome	biolink:Disease	mondo	OMIM:123150|ICD10:Q87.8|UMLS:C0795998|SCTID:709105005|DOID:0111337|NCIT:C123814|Orphanet:1540|GARD:0006796|ICD9:759.89|MESH:C537559	ordo_malformation_syndrome|gard_rare	Jackson-Weiss syndrome; JWS|Jackson-Weiss syndrome|craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome|craniosynostosis, midfacial hypoplasia, and foot abnormalities|JWS	http://purl.obolibrary.org/obo/MONDO_0007400	Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.	NCIT:C123814|ORPHA:1540|UMLS:C0795998|MESH:C537559|http://identifiers.org/omim/123150|DOID:0111337|SNOMEDCT:709105005
HGNC:2494	CTBP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2494		
UBERON:0004040	cortical intermediate zone	biolink:AnatomicalEntity	mondo			cerebral cortex mantle layer|cortical mantle layer|IZ|cerebral cortex mantle zone	http://purl.obolibrary.org/obo/UBERON_0004040	The region of the developing mammalian cortex that extends between the ventricular zone and the cortical plate (CP); normally, the IZ is a region of tangential migration of cells, and at midgestation, the lower part of the IZ develops into the subventricular zone	
HGNC:2498	CTDP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2498		
UBERON:0018674	heart vasculature	biolink:AnatomicalEntity	mondo			cardiac vasculature	http://purl.obolibrary.org/obo/UBERON_0018674	An interconnected tubular multi-tissue structure that contains fluid that is actively transported around the heart.	
MONDO:0007418	Darwinian tubercle of pinna	biolink:Disease	mondo	OMIM:124400|OMIM:124300|UMLS:C2751189	merged_class	Darwinian point of Pinna|Darwinian Notch|Darwinian tubercle of pinna	http://purl.obolibrary.org/obo/MONDO_0007418		http://identifiers.org/omim/124400|http://identifiers.org/omim/124300|UMLS:C2751189
MONDO:0007419	obsolete Darwinian tubercle of pinna	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0007419		
UBERON:0018673	neck of fibula	biolink:AnatomicalEntity	mondo			fibular neck|fibula neck	http://purl.obolibrary.org/obo/UBERON_0018673		
MONDO:0007416	Balkan nephropathy	biolink:Disease	mondo	NCIT:C123025|UMLS:C4049993|ICD9:583.89|DOID:3052|OMIM:124100|MESH:D001449|UMLS:C0004698|ICD10:N15.0|SCTID:26121002|GARD:0008576|EFO:0007164		Danubian endemic familial nephropathy|aristolochic acid nephropathy|Balkan endemic nephropathy|DEFN|AAN|BEN|Chinese herb endemic nephropathy|endemic nephropathy|nephropathia epidemica|Balkan endemic nephropathy	http://purl.obolibrary.org/obo/MONDO_0007416	A chronic tubulointerstitial nephropathy that affects people in certain rural areas along the Danube river in the Balkans. It leads to end-stage renal disease.	SNOMEDCT:26121002|MESH:D001449|http://identifiers.org/omim/124100|DOID:3052|UMLS:C4049993|NCIT:C123025|NCIT:C84584|UMLS:C0004698
MONDO:0007417	Darier disease	biolink:Disease	mondo	ICD10:Q82.8|SCTID:48611009|MedDRA:10023369|DOID:2734|NCIT:C84665|GARD:0006243|ICD9:757.39|ICD10:E50.8|UMLS:C0022595|Wikipedia:Darier%27s_disease|OMIM:124200|Orphanet:218	ordo_disease	Darier White disease|Darier disease, segmental|Darier-White disease|DAR|Darier-White disease; dar|Darier disease, acral hemorrhagic type|Darier disease|keratosis follicularis|Darier's disease	http://purl.obolibrary.org/obo/MONDO_0007417	Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies.	MEDDRA:10023369|ORPHA:218|http://identifiers.org/omim/124200|SNOMEDCT:48611009|MESH:D007644|DOID:2734|UMLS:C0022595|NCIT:C84665
MONDO:0007414	Gorham-Stout disease	biolink:Disease	mondo	GARD:0006542|Orphanet:73|SCTID:1515008|ICD10:M89.5|ICD9:733.99|OMIM:123880|MedDRA:10071283	ordo_malformation_syndrome	idiopathic massive osteolysis|Gorham-Stout disease|osteolysis, massive|vanishing bone disease|cystic angiomatosis of bone, diffuse|progressive massive osteolysis|cystic angiomatosis of bone diffuse|Gorham syndrome|Gorham disease|osteolysis massive	http://purl.obolibrary.org/obo/MONDO_0007414	Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture.	SNOMEDCT:1515008|http://identifiers.org/omim/123880|ORPHA:73|UMLS:C0029438|MEDDRA:10071283
MONDO:0007415	mitochondrial complex III deficiency nuclear type 1	biolink:Disease	mondo	MESH:C565128|GARD:0008295|DOID:0080111|OMIM:124000	gard_rare	mitochondrial complex III deficiency, nuclear type 1|mitochondrial complex III deficiency, nuclear type 1; MC3DN1|Complex 3 mitochondrial respiratory chain deficiency|BCS1L mitochondrial complex III deficiency|MC3DN1|mitochondrial Complex 3 deficiency, nuclear type 1|mitochondrial complex III deficiency caused by mutation in BCS1L|mitochondrial complex III deficiency	http://purl.obolibrary.org/obo/MONDO_0007415	Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the BCS1L gene.	DOID:0080111|http://identifiers.org/omim/124000|MESH:C565128
MONDO:0007412	Beare-Stevenson cutis gyrata syndrome	biolink:Disease	mondo	MESH:C565129|OMIM:123790|UMLS:C1852406|GARD:0000332|Orphanet:1555|NCIT:C123813|ICD10:Q87.8|DOID:0050660|ICD9:759.89|SCTID:703528008	gard_rare|ordo_malformation_syndrome	Beare Stevenson syndrome|cutis gyrata syndrome of Beare and Stevenson|Beare-Stevenson cutis gyrata syndrome|Beare-Stevenson syndrome|cutis gyrata - acanthosis nigricans - craniosynostosis|Beare-Stevenson cutis gyrata syndrome; BSTVS|cutis gyrata-acanthosis nigricans-craniosynostosis syndrome|BSTVS	http://purl.obolibrary.org/obo/MONDO_0007412	Cutis Gyrata-Acanthosis nigricans-craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.	NCIT:C123813|ORPHA:1555|MESH:C565129|DOID:0050660|http://identifiers.org/omim/123790|UMLS:C1852406|SNOMEDCT:703528008
MONDO:0007413	Cyprus facial-neuromusculoskeletal syndrome	biolink:Disease	mondo	Orphanet:2674|UMLS:C1852396|SCTID:732261005|ICD10:Q87.8|OMIM:123853|GARD:0009487|MESH:C536229	ordo_malformation_syndrome|gard_rare	unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects|CYPRUS facial neuromusculoskeletal syndrome	http://purl.obolibrary.org/obo/MONDO_0007413	Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects.	ORPHA:2674|MESH:C536229|SNOMEDCT:732261005|http://identifiers.org/omim/123853|UMLS:C1852396
MONDO:0007410	isolated cryptophthalmia	biolink:Disease	mondo	OMIM:123570|DOID:0111717|MESH:C565138|UMLS:C1852453|Orphanet:91396|ICD10:Q11.2|SCTID:718691008	ordo_morphological_anomaly	cryptophthalmos with microphthalmia and Peters anomaly|nonsyndromic cryptophthalmia|cryptophthalmos, unilateral or bilateral, isolated|ankyloblepharon, simple	http://purl.obolibrary.org/obo/MONDO_0007410	Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant.	MESH:C565138|DOID:0111717|http://identifiers.org/omim/123570|UMLS:C1852453|SNOMEDCT:718691008|ORPHA:91396
MONDO:0007411	cutis laxa, autosomal dominant 1	biolink:Disease	mondo	UMLS:C3276539|DOID:0070130|OMIM:123700|ICD10:Q82.8		ELN autosomal dominant cutis laxa|ADCL1|autosomal dominant cutis laxa caused by mutation in ELN|autosomal dominant cutis laxa 1|cutis laxa, autosomal dominant type 1|cutis laxa, autosomal dominant 1|cutis laxa, autosomal dominant 1; ADCL1	http://purl.obolibrary.org/obo/MONDO_0007411	Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the ELN gene.	http://identifiers.org/omim/123700|UMLS:C3276539|DOID:0070130
UBERON:0006694	cerebellum vasculature	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006694	A vasculature that is part of a cerebellum.	
UBERON:0006692	vertebral canal	biolink:AnatomicalEntity	mondo			neural canal|vertebral canal|spinal cavity|spinal canal|foramen vertebrale|c. vertebralis	http://purl.obolibrary.org/obo/UBERON_0006692	A conduit enclosed within the vertebral foramen of the vertebrae through which the spinal cord passes.	
NCBITaxon:6231	Nematoda	organism taxon	mondo	GC_ID:1		roundworms|roundworm|nematodes|Nemata|nematodes|nematode	http://purl.obolibrary.org/obo/NCBITaxon_6231		
UBERON:0004035	cortical subplate	biolink:AnatomicalEntity	mondo			SP|subplate|subplate zone|cerebral cortex subplate	http://purl.obolibrary.org/obo/UBERON_0004035	The transient outer neural tube region that contains the first generated post-mitotic neurons that receive synaptic input from thalamic axons and in turn project axons to the developing cortical plate	
GO:0032838	plasma membrane bounded cell projection cytoplasm	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0032838	All of the contents of a plasma membrane bounded cell projection, excluding the plasma membrane surrounding the projection.	
GO:0005215	transporter activity	biolink:OntologyClass	mondo			carrier	http://purl.obolibrary.org/obo/GO_0005215	Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells.	
GO:0005216	ion channel activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0005216	Enables the facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. May be either selective (it enables passage of a specific ion only) or non-selective (it enables passage of two or more ions of same charge but different size).	
NCBITaxon:6281	Onchocerca	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6281		
NCBITaxon:6282	Onchocerca volvulus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6282		
UBERON:0006603	presumptive mesoderm	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006603	Presumptive structure of the blastula that will develop into mesoderm.	
UBERON:0006601	presumptive ectoderm	biolink:AnatomicalEntity	mondo			presumptive epidermis	http://purl.obolibrary.org/obo/UBERON_0006601	Presumptive structure of the blastula that will develop into ectoderm.	
NCBITaxon:6286	Dirofilaria	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6286		
HP:0002300	Mutism	biolink:PhenotypicFeature	mondo	MSH:D009155|SNOMEDCT_US:88052002|UMLS:C0026884		Inability to speak|Muteness	http://purl.obolibrary.org/obo/HP_0002300		
GO:0019866	organelle inner membrane	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0019866	The inner, i.e. lumen-facing, lipid bilayer of an organelle envelope; usually highly selective to most ions and metabolites.	
NCBITaxon:6296	Onchocercidae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6296		
NCBITaxon:6295	Filarioidea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6295		
NCBITaxon:6258	Baylisascaris	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6258		
NCBITaxon:6259	Baylisascaris procyonis	organism taxon	mondo	GC_ID:1		raccoon roundworm	http://purl.obolibrary.org/obo/NCBITaxon_6259		
NCBITaxon:6267	Anisakidae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6267		
NCBITaxon:6268	Anisakis	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6268		
NCBITaxon:6264	Toxocara	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6264		
NCBITaxon:693995	Coronavirinae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_693995		
NCBITaxon:693996	Alphacoronavirus	organism taxon	mondo	GC_ID:1		Group 1 species|Coronavirus group 1|Coronavirus	http://purl.obolibrary.org/obo/NCBITaxon_693996		
NCBITaxon:6269	Anisakis simplex	organism taxon	mondo	GC_ID:1		herring worm	http://purl.obolibrary.org/obo/NCBITaxon_6269		
NCBITaxon:693997	Alphacoronavirus 1	organism taxon	mondo	GC_ID:1		Alphacoronavirus-1	http://purl.obolibrary.org/obo/NCBITaxon_693997		
NCBITaxon:91493	Exserohilum	organism taxon	mondo	GC_ID:1		Setosphaeria	http://purl.obolibrary.org/obo/NCBITaxon_91493		
GO:0019842	vitamin binding	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0019842	Interacting selectively and non-covalently with a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body.	
NCBITaxon:6274	Spirurina	organism taxon	mondo	GC_ID:1		Spirurida	http://purl.obolibrary.org/obo/NCBITaxon_6274		
HP:0002334	Abnormality of the cerebellar vermis	biolink:PhenotypicFeature	mondo	UMLS:C4025712			http://purl.obolibrary.org/obo/HP_0002334	An anomaly of the vermis of cerebellum.	
GO:0019814	immunoglobulin complex	biolink:OntologyClass	mondo			antibody	http://purl.obolibrary.org/obo/GO_0019814	A protein complex that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains, held together by disulfide bonds and sometimes complexed with additional proteins. An immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph.	
GO:0019815	B cell receptor complex	biolink:OntologyClass	mondo			immunoglobulin complex, membrane bound|B cell receptor accessory molecule complex|B-lymphocyte receptor complex|BCR complex|B lymphocyte receptor complex|B-cell receptor complex|antibody	http://purl.obolibrary.org/obo/GO_0019815	An immunoglobulin complex that is present in the plasma membrane of B cells and that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins.	
UBERON:0006648	adventitia of seminal vesicle	biolink:AnatomicalEntity	mondo			tunica adventitia glandulae vesiculosae|adventitia of seminal gland|seminal vesicle adventitia|tunica adventitia (vesicula seminalis)	http://purl.obolibrary.org/obo/UBERON_0006648	An adventitia that is part of a seminal vesicle.	
UBERON:0006647	adventitia of ductus deferens	biolink:AnatomicalEntity	mondo			tunica adventitia (ductus deferens)|deferent ductal adventitia|adventitia of deferent duct|adventitia of vas deferens|tunica adventitia ductus deferentis|adventitia of ductus deferens	http://purl.obolibrary.org/obo/UBERON_0006647	An adventitia that is part of a vas deferens.	
UBERON:0006646	muscle layer of epididymis	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006646	A muscle layer that is part of a epididymis.	
UBERON:0006645	adventitia of epididymis	biolink:AnatomicalEntity	mondo			epididymis adventitia	http://purl.obolibrary.org/obo/UBERON_0006645	An adventitia that is part of a epididymis.	
UBERON:0006642	muscle layer of oviduct	biolink:AnatomicalEntity	mondo			muscular coat of uterine tube|muscle layer of fallopian tube|muscularis of uterine tube|tunica muscularis (Tuba uterina)|tunica muscularis tubae uterinae|muscle layer of uterine tube|uterine tubal muscularis|muscular layer of uterine tube|muscle layer of oviduct	http://purl.obolibrary.org/obo/UBERON_0006642	A muscle layer that is part of a fallopian tube.	
NCBITaxon:400053	Sylvaemus group	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_400053		
CHEBI:43474	hydrogenphosphate	biolink:ChemicalSubstance	mondo			hydrogen(tetraoxidophosphate)(2-)|HYDROGENPHOSPHATE ION|hydrogentetraoxophosphate(V)|hydrogentetraoxophosphate(2-)|hydrogenphosphate|INORGANIC PHOSPHATE GROUP|HPO4(2-)|[P(OH)O3](2-)|[PO3(OH)](2-)|phosphate|hydrogen phosphate|hydroxidotrioxidophosphate(2-)	http://purl.obolibrary.org/obo/CHEBI_43474	A phosphate ion that is the conjugate base of dihydrogenphosphate.	
HP:0002344	Progressive neurologic deterioration	biolink:PhenotypicFeature	mondo	UMLS:C1854838		Progressive neurodegeneration|Neurologic deterioration|Neurologic deterioration, progressive|Progressive mental deterioration|Worsening neurological symptoms	http://purl.obolibrary.org/obo/HP_0002344		
HP:0002345	Action tremor	biolink:PhenotypicFeature	mondo	MSH:D014202|UMLS:C0234376|UMLS:C4020853|SNOMEDCT_US:30721006		Ataxic tremor	http://purl.obolibrary.org/obo/HP_0002345	A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.	
FOODON:00001563	has defining ingredient	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00001563	A defining ingredient defines what a food is principally categorized as, rather than an ingredient listed by percentage of weight or volume. A food may have more than one defining ingredient.	
UBERON:0006635	anterior abdominal wall	biolink:AnatomicalEntity	mondo			ventral abdominal wall	http://purl.obolibrary.org/obo/UBERON_0006635	The abdominal wall represents the boundaries of the abdominal cavity. The abdominal wall is split into the posterior (back), lateral (sides) and anterior (front) walls. There is a common set of layers covering and forming all the walls: the deepest being the extraperitoneal fat, the parietal peritoneum, and a layer of fascia which has different names over where it covers (eg transversalis, psoas fascia). Superficial to these, but not present in the posterior wall are the three layers of muscle, the transversus abdominis (transverse abdominal muscle), the internal (obliquus internus) and the external oblique (obliquus externus).	
HGNC:2400	CRYBB3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2400		
UBERON:0006633	coracoid process of scapula	biolink:AnatomicalEntity	mondo			processus coracoideus|coracoid process of the scapula|coracoid process	http://purl.obolibrary.org/obo/UBERON_0006633	A process of the scapula in most mammals representing the remnant of the coracoid bone of lower vertebrates thas has become fused with the scapula.	
UBERON:0006632	musculo-phrenic artery	biolink:AnatomicalEntity	mondo			musculophrenic artery	http://purl.obolibrary.org/obo/UBERON_0006632	An artery with its origin in the lateral terminal branch of the internal thoracic artery, with distribution to the diaphragm and the intercostal muscles, and with anastomoses to the branches of the pericardiacophrenic and inferior phrenic.	
HGNC:2409	CRYGB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2409		
UBERON:0006617	left external ear	biolink:AnatomicalEntity	mondo			left auricular region	http://purl.obolibrary.org/obo/UBERON_0006617	An external ear that is in the left side of a multicellular organism.	
HP:0002315	Headache	biolink:PhenotypicFeature	mondo	MSH:D006261|UMLS:C0018681|SNOMEDCT_US:25064002		Headache|Headaches	http://purl.obolibrary.org/obo/HP_0002315	Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.	
HGNC:2411	CRYGD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2411		
HGNC:2410	CRYGC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2410		
HGNC:2418	CRYM	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2418		
HGNC:2417	CRYGS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2417		
UBERON:0006606	mandibular symphysis	biolink:AnatomicalEntity	mondo			symphysis menti|inter-dentary joint|mental symphysis|symphysis mandibulae|inter-mandibular joint|dentary symphysis	http://purl.obolibrary.org/obo/UBERON_0006606	A cartilaginous joint that connects left and right mandibles/dentary bones. Mandibular symphysis is unpaired[TAO,modified].	
HP:0002329	Drowsiness	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:79519003|MSH:D012894|UMLS:C0013144|SNOMEDCT_US:271782001		Sleepy|Drowsiness	http://purl.obolibrary.org/obo/HP_0002329	Excessive daytime sleepiness.	
HP:0002321	Vertigo	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:399153001|UMLS:C0012833|MSH:D004244|UMLS:C0042571|SNOMEDCT_US:399090003|MSH:D014717|SNOMEDCT_US:404640003|SNOMEDCT_US:271789005		Dizziness|Dizzy spell	http://purl.obolibrary.org/obo/HP_0002321	An abnormal sensation of spinning while the body is actually stationary.	
UBERON:0006616	right external ear	biolink:AnatomicalEntity	mondo			right auricular region	http://purl.obolibrary.org/obo/UBERON_0006616	An external ear that is in the right side of a multicellular organism.	
UBERON:0006615	venous sinus	biolink:AnatomicalEntity	mondo			blood sinus	http://purl.obolibrary.org/obo/UBERON_0006615	A large vein or channel for the circulation of venous blood	
UBERON:0006614	aponeurosis	biolink:AnatomicalEntity	mondo			aponeurotic|aponeuroses	http://purl.obolibrary.org/obo/UBERON_0006614	A sheet of extracellular matrix.	
MONDO:0044250	obsolete tongue curling, folding, or rolling	biolink:Disease	mondo	OMIM:189300		tongue curling, folding, or rolling|cloverleaf tongue|trefoil tongue	http://purl.obolibrary.org/obo/MONDO_0044250		http://identifiers.org/omim/189300
MONDO:0020283	uveitis (disease)	biolink:Disease	mondo	Orphanet:98715|NCIT:C26909|EFO:1001231|HP:0000554|UMLS:C0042164|MESH:D014605|SCTID:128473001|ICD10:H20.9|DOID:13141|MedDRA:10046851	ordo_group_of_disorders	uveitis|uvea inflammation|inflammation of uvea	http://purl.obolibrary.org/obo/MONDO_0020283	An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision.	MESH:D014605|UMLS:C0042164|ORPHA:98715|DOID:13141|MEDDRA:10046851|NCIT:C26909|SNOMEDCT:128473001
MONDO:0019294	mixed dermis disorder	biolink:Disease	mondo	UMLS:CN227617|Orphanet:79380	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019294		UMLS:CN227617|ORPHA:79380
MONDO:0019293	skin vascular disease	biolink:Disease	mondo	SCTID:11263005|DOID:9540|UMLS:C0162819|MedDRA:10062171|ICD9:709.1|MESH:D017445|NCIT:C35254|Orphanet:79379|COHD:316501	ordo_group_of_disorders	vascular disorders of skin|skin vascular disorder|vascular disease of the skin|vascular skin disease|superficial vasculature disease|vascular disorder of skin|disorder of blood vessels affecting skin|vasculature skin disease	http://purl.obolibrary.org/obo/MONDO_0019293	A disease that involves the superficial vasculature.	DOID:9540|MESH:D017445|SNOMEDCT:11263005|NCIT:C35254|UMLS:C0162819|MEDDRA:10062171|ORPHA:79379
MONDO:0020282	metabolic disease with macular cherry-red spot	biolink:Disease	mondo	Orphanet:98714|UMLS:CN207085	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020282		UMLS:CN207085|ORPHA:98714
MONDO:0020281	metabolic disease with pigmentary retinitis	biolink:Disease	mondo	UMLS:CN207084|Orphanet:98713	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020281		UMLS:CN207084|ORPHA:98713
MONDO:0019296	subcutaneous tissue disease	biolink:Disease	mondo	UMLS:C1290008|Orphanet:79382	ordo_group_of_disorders	disease of superficial fascia|disease or disorder of superficial fascia|disorder of superficial fascia|superficial fascia disease|superficial fascia disease or disorder|disorder of superficial fascia	http://purl.obolibrary.org/obo/MONDO_0019296	A disease involving the superficial fascia.	UMLS:C1290008|ORPHA:79382
MONDO:0044252	obsolete skin/hair/eye pigmentation, variation in, 6	biolink:Disease	mondo	OMIM:210750		SHEP6|skin/hair/eye pigmentation 6, Blond/Brown hair|skin/hair/eye pigmentation, variation IN, 6; SHEP6|skin/hair/eye pigmentation 6, blue/Green eyes	http://purl.obolibrary.org/obo/MONDO_0044252		http://identifiers.org/omim/210750
MONDO:0020280	metabolic disease with cataract	biolink:Disease	mondo	UMLS:CN207083|Orphanet:98712	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020280		UMLS:CN207083|ORPHA:98712
MONDO:0044251	obsolete australia antigen	biolink:Disease	mondo	OMIM:209800		Australia antigen	http://purl.obolibrary.org/obo/MONDO_0044251		http://identifiers.org/omim/209800
MONDO:0019295	obsolete other dermis disorder	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019295		
MONDO:0019290	hypopigmentation of the skin (disease)	biolink:Disease	mondo	Orphanet:79376|HP:0001010|MedDRA:10040868|MESH:D017496	ordo_group_of_disorders	hypopigmentation of the skin|hypomelanoses|hypomelanosis	http://purl.obolibrary.org/obo/MONDO_0019290	A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections.	MEDDRA:10040868|ORPHA:79376|MESH:D017496
MONDO:0019292	dermis elastic tissue disorder	biolink:Disease	mondo	UMLS:CN227616|Orphanet:79378	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019292		UMLS:CN227616|ORPHA:79378
MONDO:0019291	obsolete rare genetic dermis disorder	biolink:Disease	mondo	UMLS:CN227615|Orphanet:79377	obsoletion_candidate|ordo_group_of_disorders	dermis disorder	http://purl.obolibrary.org/obo/MONDO_0019291		UMLS:CN227615|ORPHA:79377
MONDO:0044258	obsolete methane production	biolink:Disease	mondo	OMIM:250650		methane production	http://purl.obolibrary.org/obo/MONDO_0044258		http://identifiers.org/omim/250650
MONDO:0044257	obsolete lutheran null	biolink:Disease	mondo	OMIM:247420		recessive 50U (A-B-) phenotype|Lutheran null	http://purl.obolibrary.org/obo/MONDO_0044257	Autosomal recessive inheritance of the Lutheran null blood group phenotype is extremely rare, and has been reported in only 5 individuals. There is no obvious associated clinical or hematologic pathology, and all patients have been identified through identification of anti-Lu3 antibodies in their serum ({4:Karamatic Crew et al., 2007}).nnThe Lutheran inhibitor blood group phenotype (In(Lu); OMIM:111150) is characterized phenotypically by the apparent absence of the Lu antigen on red blood cells during serologic tests, i.e. Lu(a-b-). Since it is inherited as an autosomal dominant trait, it was initially postulated to result from an inhibitor of the Lu antigen. However, {7:Singleton et al. (2008)} found that the phenotype results from a mutation in the transcription factor KLF1 that regulates expression of the BCAM gene. These 2 forms of Lutheran absence on red blood cells can be differentiated both by the pedigree and by serologic studies.nnAn X-linked recessive form (OMIM:309050) has been rarely reported.	http://identifiers.org/omim/247420
MONDO:0020289	congenital tricuspid malformation	biolink:Disease	mondo	ICD10:Q22.9|ICD10:Q22.8|ICD10:Q22.5|HP:0001702|ICD10:Q22.4|Orphanet:98721	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020289		ORPHA:98721
MONDO:0020288	atrioventricular valve anomaly	biolink:Disease	mondo	Orphanet:98720	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020288		ORPHA:98720
MONDO:0044259	obsolete skin/hair/eye pigmentation, variation in, 2	biolink:Disease	mondo	OMIM:266300		Blond hair/fair skin|SHEP2|Rha|UV-induced skin damage, susceptibility to|skin/hair/eye pigmentation, variation IN, 2; SHEP2|hair color 2|Red hair color	http://purl.obolibrary.org/obo/MONDO_0044259	Two types of melanin, the red pheomelanin and the black eumelanin, are present in human skin. {22:Valverde et al. (1995)} noted that eumelanin is photoprotective, whereas pheomelanin may contribute to UV-induced skin damage because of its potential to generate free radicals in response to ultraviolet radiation. Individuals with red hair have a predominance of pheomelanin in hair and skin and/or a reduced ability to produce eumelanin, which may explain why they fail to tan and are at risk from ultraviolet radiation. In mammals, the relative proportions of pheomelanin and eumelanin are regulated by melanocyte-stimulating hormone (see OMIM:176830), which acts via its receptor (MC1R) on melanocytes to increase the synthesis of eumelanin, and also via the product of the agouti locus (AGTI; OMIM:600201), which antagonizes this action.	http://identifiers.org/omim/266300
MONDO:0044254	obsolete dermatoglyphics--hypothenar radial arch	biolink:Disease	mondo	OMIM:221780		dermatoglyphics--hypothenar radial arch	http://purl.obolibrary.org/obo/MONDO_0044254		http://identifiers.org/omim/221780
MONDO:0020287	pulmonary artery or pulmonary branch anomaly	biolink:Disease	mondo	Orphanet:98719	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020287		ORPHA:98719
MONDO:0044253	obsolete dermatoglyphics--palmar triradius d, absence of	biolink:Disease	mondo	OMIM:221760		dermatoglyphics--palmar triradius d, absence of	http://purl.obolibrary.org/obo/MONDO_0044253		http://identifiers.org/omim/221760
MONDO:0020286	aortic malformation	biolink:Disease	mondo	Orphanet:98718	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020286		ORPHA:98718
MONDO:0044256	obsolete skin/hair/eye pigmentation, variation in, 5	biolink:Disease	mondo	OMIM:227240		skin/hair/eye pigmentation, variation IN, 5; SHEP5|skin/hair/eye pigmentation 5, Black/nonblack hair|skin/hair/eye pigmentation 5, dark/fair skin|SHEP5|skin/hair/eye pigmentation 5, dark/Light eyes	http://purl.obolibrary.org/obo/MONDO_0044256		http://identifiers.org/omim/227240
MONDO:0020285	transposition of the great arteries and conotruncal cardiac anomaly	biolink:Disease	mondo	Orphanet:98717	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020285		ORPHA:98717
MONDO:0020284	heart position anomaly	biolink:Disease	mondo	Orphanet:98716	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020284		ORPHA:98716
MONDO:0044255	obsolete skin/hair/eye pigmentation, variation in, 1	biolink:Disease	mondo	OMIM:227220		eye color, blue/Nonblue|skin/hair/eye pigmentation 1, blue/Brown eyes|hair color 3|skin/hair/eye pigmentation 1, Blond/Brown hair|skin/hair/eye pigmentation, variation IN, 1; SHEP1|skin/hair/eye pigmentation 1, blue/Nonblue eyes|eye color 3|Brown eye color 2|eye color, Brown/blue|SHEP1	http://purl.obolibrary.org/obo/MONDO_0044255	<Subhead> Genetic Heterogeneity of Variation in Skin/Hair/Eye PigmentationnnMultiple genes influence normal human skin, hair, and/or eye pigmentation. Pigmentation phenotypes influenced by variation in the OCA2 gene are termed SHEP1. The SHEP2 association (OMIM:266300) is determined by variation at the MC1R locus (OMIM:155555) and describes a phenotype predominantly characterized by red hair and fair skin. SHEP3 (OMIM:601800) encompasses pigment variation influenced by the TYR gene (OMIM:606933); SHEP4 (OMIM:113750), that influenced by the SLC24A5 gene (OMIM:609802). Variation in the SLC45A2 (OMIM:606202) and SLC24A4 (OMIM:609840) genes result in the phenotypic associations SHEP5 (OMIM:227240) and SHEP6 (OMIM:210750), respectively. Sequence variation thought to affect expression of KITLG (OMIM:184745) results in the SHEP7 (OMIM:611664) phenotypic association. SHEP8 (OMIM:611724) is associated with variation in the IRF4 gene (OMIM:601900). Polymorphism in the 3-prime untranslated region of the ASIP gene (OMIM:600201) influences the SHEP9 association (OMIM:611742). The SHEP10 association (OMIM:612267) comprises variation in the TPCN2 gene (OMIM:612163), and SHEP11 (OMIM:612271) is associated with polymorphism near the TYRP1 gene (OMIM:115501).	http://identifiers.org/omim/227220
GO:0042362	fat-soluble vitamin biosynthetic process	biolink:OntologyClass	mondo			fat-soluble vitamin biosynthesis|fat-soluble vitamin synthesis|fat-soluble vitamin formation|fat-soluble vitamin anabolism	http://purl.obolibrary.org/obo/GO_0042362	The chemical reactions and pathways resulting in the formation of any of a diverse group of vitamins that are soluble in organic solvents and relatively insoluble in water.	
GO:0042368	vitamin D biosynthetic process	biolink:OntologyClass	mondo			vitamin D anabolism|vitamin D synthesis|vitamin D formation|vitamin D biosynthesis|calciferol biosynthesis|calciferol biosynthetic process|cholecalciferol biosynthesis|cholecalciferol biosynthetic process|ergocalciferol biosynthetic process|ergocalciferol biosynthesis	http://purl.obolibrary.org/obo/GO_0042368	The chemical reactions and pathways resulting in the formation of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3).	
MONDO:0019298	obsolete rare urticaria	biolink:Disease	mondo	Orphanet:79384	obsoletion_candidate|ordo_group_of_disorders	rare urticaria (disease)|rare urticaria|rare hives	http://purl.obolibrary.org/obo/MONDO_0019298	Rare urticaria.	ORPHA:79384
MONDO:0019297	lymphedema	biolink:Disease	mondo	MedDRA:10025282|ICD9:457.1|NCIT:C3207|COHD:435839|DOID:4977|Orphanet:79383|UMLS:C0024236|MESH:D008209|SCTID:234097001|GARD:0012563	ordo_group_of_disorders	lymphoedema NOS|lymphatic edema|lymphatic edema (morphologic abnormality)|lymphoedema	http://purl.obolibrary.org/obo/MONDO_0019297	Excess fluid collection in tissues, causing swelling. It is the result of obstruction of lymphatic vessels or lymph nodes.	MEDDRA:10025282|NCIT:C3207|SNOMEDCT:234097001|MESH:D008209|UMLS:C0024236|DOID:4977|ORPHA:79383
CHEBI:5686	heterocyclic compound	biolink:ChemicalSubstance	mondo			compuestos heterociclicos|Heterocyclic compound|heterocyclic compounds|heterocycle|compuesto heterociclico	http://purl.obolibrary.org/obo/CHEBI_5686	A cyclic compound having as ring members atoms of at least two different elements.	
MONDO:0019299	unclassified genetic skin disorder	biolink:Disease	mondo	Orphanet:79385|UMLS:CN205933	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019299		UMLS:CN205933|ORPHA:79385
MONDO:0019283	nail anomaly	biolink:Disease	mondo	Orphanet:79368|MedDRA:10028684	ordo_group_of_disorders	nail epidermal appendage anomaly|epidermal appendage anomaly of nail	http://purl.obolibrary.org/obo/MONDO_0019283	A epidermal appendage anomaly that involves the nail.	MEDDRA:10028684|UMLS:C0853087|ORPHA:79368
MONDO:0020272	connective tissue disease with eye involvement	biolink:Disease	mondo	Orphanet:98702|UMLS:CN207077	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020272		ORPHA:98702|UMLS:CN207077
MONDO:0044261	obsolete menoq1	biolink:Disease	mondo	OMIM:300488		menopause, natural, AGE AT, quantitative trait locus 1; MENOQ1|MENOQ1	http://purl.obolibrary.org/obo/MONDO_0044261		http://identifiers.org/omim/300488
MONDO:0044260	obsolete ec1	biolink:Disease	mondo	HGNC:7832		susceptibility to lysis by ALLOREACTIVE natural KILLER cells; EC1|EC1|natural Killer cell susceptibility 1	http://purl.obolibrary.org/obo/MONDO_0044260		
MONDO:0019282	syndromic hair shaft abnormality	biolink:Disease	mondo	Orphanet:79367|UMLS:CN227611	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019282		UMLS:CN227611|ORPHA:79367
MONDO:0020271	obsolete phakomatosis with eye involvement	biolink:Disease	mondo	Orphanet:98701	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020271		ORPHA:98701
MONDO:0019285	syndromic nail anomaly	biolink:Disease	mondo	UMLS:CN227613|Orphanet:79370	ordo_group_of_disorders	syndromic nail anomaly|syndrome associated with nail anomaly|syndrome associated with nail anomaly	http://purl.obolibrary.org/obo/MONDO_0019285	A nail anomaly that is part of a larger syndrome.	UMLS:CN227613|ORPHA:79370
MONDO:0044263	obsolete lutheran suppressor, x-linked	biolink:Disease	mondo	HGNC:12837		LuxS|Lutheran suppressor, X-linked; XS|XS	http://purl.obolibrary.org/obo/MONDO_0044263	An X-linked recessive inhibitor (XS) of the Lutheran blood group system (OMIM:111200) has been reported.nnFor a discussion of Lutheran blood group phenotypes, see OMIM:247420.	
MONDO:0020270	pigmentation disorder with eye involvement	biolink:Disease	mondo	UMLS:CN227844|Orphanet:98700	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020270		UMLS:CN227844|ORPHA:98700
MONDO:0044262	obsolete cyanide, inability to smell	biolink:Disease	mondo	OMIM:304300		cyanide, inability to smell	http://purl.obolibrary.org/obo/MONDO_0044262		http://identifiers.org/omim/304300
MONDO:0019284	inherited isolated nail anomaly	biolink:Disease	mondo	Orphanet:79369|OMIMPS:161050|DC:0000310	ordo_group_of_disorders	nonsyndromic nail anomaly|nail disorder, nonsyndromic congenital|isolated nail anomaly	http://purl.obolibrary.org/obo/MONDO_0019284	A nail anomaly that is not part of a larger syndrome.	ORPHA:79369
MONDO:0019281	isolated genetic hair shaft abnormality	biolink:Disease	mondo	Orphanet:79366	ordo_group_of_disorders	isolated hair shaft abnormality	http://purl.obolibrary.org/obo/MONDO_0019281		ORPHA:79366
MONDO:0019280	hypertrichosis (disease)	biolink:Disease	mondo	SCTID:29966009|MedDRA:10020864|DOID:420|UMLS:C0020555|ICD10:L68.3|Orphanet:79365|ICD10:L68|HP:0000998|MESH:D006983|ICD10:L68.9	ordo_group_of_disorders	hypertrichosis	http://purl.obolibrary.org/obo/MONDO_0019280	Excessive hair growth anywhere on the body.	MESH:D006983|UMLS:C0020555|NCIT:C79597|SNOMEDCT:29966009|DOID:420|ORPHA:79365|MEDDRA:10020864
MONDO:0044269	obsolete novelty seeking personality trait	biolink:Disease	mondo	OMIM:601696		novelty seeking personality trait|risk-taking behavior	http://purl.obolibrary.org/obo/MONDO_0044269	Human personality traits that can be reliably measured by rating scales show a considerable heritable component. One such instrument is the tridimensional personality questionnaire (TPQ), which was designed by {6:Cloninger et al. (1993)} to measure 4 distinct domains of temperament--novelty seeking, harm avoidance, reward dependence, and persistence--that are hypothesized to be based on distinct neurochemical and genetic substrates.nnRisk-taking is a characteristic of behaviors that occur under conditions of uncertainty and involves a tradeoff between beneficial versus detrimental outcomes, perceived or real. Risk-taking may or may not involve conscious evaluation of the probability and magnitude of possible outcomes ({1:Anokhin et al., 2009}).nnSee also harm avoidance (OMIM:607834) and pathologic gambling (OMIM:606349), which may be related.	http://identifiers.org/omim/601696
MONDO:0044268	obsolete transsexuality	biolink:Disease	mondo	OMIM:600952		TRANSSEXUALITY	http://purl.obolibrary.org/obo/MONDO_0044268		http://identifiers.org/omim/600952
MONDO:0020279	metabolic disease with corneal opacity	biolink:Disease	mondo	UMLS:CN207082|Orphanet:98711	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020279		UMLS:CN207082|ORPHA:98711
MONDO:0020278	metabolic disease associated with ocular features	biolink:Disease	mondo	UMLS:CN207081|Orphanet:98710	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020278		UMLS:CN207081|ORPHA:98710
MONDO:0020277	ectodermal malformation syndrome associated with ocular features	biolink:Disease	mondo	Orphanet:98709|UMLS:CN207080	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020277		UMLS:CN207080|ORPHA:98709
MONDO:0020276	pigmentation disorder with eye involvement, excluding albinism	biolink:Disease	mondo	Orphanet:98708|UMLS:CN227845	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020276		UMLS:CN227845|ORPHA:98708
MONDO:0044265	obsolete tooth size	biolink:Disease	mondo	OMIM:314240		tooth size	http://purl.obolibrary.org/obo/MONDO_0044265		http://identifiers.org/omim/314240
MONDO:0044264	obsolete radial loop, plain, on right index finger	biolink:Disease	mondo	OMIM:312200		radial loop, plain, ON right index finger	http://purl.obolibrary.org/obo/MONDO_0044264		http://identifiers.org/omim/312200
MONDO:0020275	oculocutaneous or ocular albinism	biolink:Disease	mondo	ICD10:E70.3|Orphanet:98706	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020275	Albinism that affects the eyes, including ocular albinism and oculocutaneous albinism.	ORPHA:98706
MONDO:0044267	obsolete gcy	biolink:Disease	mondo	HGNC:4211		growth control, Y-chromosome influenced; GCY|tooth size|stature|GCY	http://purl.obolibrary.org/obo/MONDO_0044267		
MONDO:0020274	onycho-patellar syndrome with eye involvement	biolink:Disease	mondo	Orphanet:98704|UMLS:CN207079	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020274		ORPHA:98704|UMLS:CN207079
MONDO:0044266	obsolete xm system	biolink:Disease	mondo	HGNC:12813		XM system	http://purl.obolibrary.org/obo/MONDO_0044266	{2,3:Berg and Bearn (1966, 1966)} discovered an X-linked serum protein type by means of heteroantiserum made specific by absorption. Since the group-specific antigen appears to be located in the alpha-2-macroglobulin of serum, the name Xm was assigned to the system. The distribution of phenotypes in families and in populations was consistent with X-linkage.	
MONDO:0020273	disease with potential neoplastic degeneration associated with ocular features	biolink:Disease	mondo	Orphanet:98703|UMLS:CN207078	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020273		ORPHA:98703|UMLS:CN207078
MONDO:0019287	ectodermal dysplasia syndrome	biolink:Disease	mondo	DOID:2121|UMLS:C0013575|SCTID:8654005|NCIT:C84683|OMIMPS:305100|MESH:D004476|Orphanet:79373|COHD:134757|MedDRA:10010452|GARD:0006317|ICD9:757.31	ordo_group_of_disorders|gard_rare	ectodermal dysplasia (select examples)|ectodermal dysplasia|congenital ectodermal defect	http://purl.obolibrary.org/obo/MONDO_0019287	The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures.	ORPHA:79373|MESH:D004476|NCIT:C84683|MEDDRA:10010452|SNOMEDCT:8654005|UMLS:C0013575|DOID:2121
MONDO:0019286	sebaceous gland anomaly	biolink:Disease	mondo	Orphanet:79372	ordo_group_of_disorders	epidermal appendage anomaly of sebaceous gland|sebaceous gland epidermal appendage anomaly	http://purl.obolibrary.org/obo/MONDO_0019286	A epidermal appendage anomaly that involves the sebaceous gland.	ORPHA:79372
MONDO:0019289	hyperpigmentation of the skin	biolink:Disease	mondo	SCTID:49765009|ICD9:709.09|EFO:0009047|Orphanet:79375|COHD:4172432|HP:0000953	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019289		ORPHA:79375|SNOMEDCT:49765009
MONDO:0019288	skin pigmentation disease	biolink:Disease	mondo	EFO:1000755|Orphanet:79374|ICD9:709.09|DOID:10123|MESH:D010859	ordo_group_of_disorders	pigmentation disease|zone of skin pigmentation disease|pigmentation anomaly of the skin|pigmentation disease of zone of skin	http://purl.obolibrary.org/obo/MONDO_0019288	A pigmentation disease that involves the zone of skin.	ORPHA:79374|MESH:D010859|DOID:10123
MONDO:0019272	hereditary palmoplantar keratoderma	biolink:Disease	mondo	Orphanet:79357|SCTID:239066003|ICD10:Q82.8|ICD9:757.39	ordo_group_of_disorders	hereditary palmoplantar hyperkeratosis|hereditary keratosis palmoplantaris|hereditary PPK|hereditary palmoplantar keratosis	http://purl.obolibrary.org/obo/MONDO_0019272	An instance of palmoplantar keratosis that is caused by an inherited modification of the individual's genome.	SNOMEDCT:239066003|UMLS:C0406757|ORPHA:79357
MONDO:0020261	obsolete neurological disease with abnormal eye movements	biolink:Disease	mondo	Orphanet:98691		abnormal eye movements	http://purl.obolibrary.org/obo/MONDO_0020261		ORPHA:98691
MONDO:0044272	obsolete body mass index quantitative trait locus 9	biolink:Disease	mondo	OMIM:602025		BMIQ9|obesity, susceptibility to|body MASS index quantitative trait locus 9; BMIQ9	http://purl.obolibrary.org/obo/MONDO_0044272		http://identifiers.org/omim/602025
MONDO:0044271	obsolete bone mineral density quantitative trait locus 1	biolink:Disease	mondo	OMIM:601884		osteoporosis, susceptibility to|high bone Mass|BMND1|bone mineral density quantitative trait locus 1; BMND1	http://purl.obolibrary.org/obo/MONDO_0044271		http://identifiers.org/omim/601884
MONDO:0019271	acrokeratoderma	biolink:Disease	mondo	Orphanet:79356|ICD10:Q82.8	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019271		ORPHA:79356
MONDO:0020260	obsolete myasthenic syndrome with eye involvement	biolink:Disease	mondo	UMLS:CN207074|Orphanet:98690	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020260		ORPHA:98690|UMLS:CN207074
MONDO:0019274	other epidermal disorder	biolink:Disease	mondo	Orphanet:79359|UMLS:CN227609	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019274		ORPHA:79359|UMLS:CN227609
MONDO:0044274	obsolete hemoglobin, high altitude adaptation	biolink:Disease	mondo	OMIM:609070		HALAH|Hemoglobin, high oxygen saturation of|HEMOGLOBIN, high altitude adaptation; HALAH	http://purl.obolibrary.org/obo/MONDO_0044274	Individuals with high altitude adaptation hemoglobin can survive in extremely hypoxic conditions without an increase in hematocrit or the development of erythrocytosis or polycythemia vera (summary by {3:Lorenzo et al., 2014}).	http://identifiers.org/omim/609070
MONDO:0044273	obsolete hypertension, diastolic, resistance to	biolink:Disease	mondo	OMIM:608622		hypertension, diastolic, resistance to	http://purl.obolibrary.org/obo/MONDO_0044273		http://identifiers.org/omim/608622
MONDO:0019273	obsolete porokeratosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019273		
MONDO:0019270	erythrokeratoderma	biolink:Disease	mondo	Orphanet:79355|MedDRA:10015280|ICD9:757.39|SCTID:254215005	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019270		MEDDRA:10015280|SNOMEDCT:254215005|UMLS:C0432330|ORPHA:79355
MONDO:0044270	obsolete bilirubin, serum level of, quantitative trait locus 1	biolink:Disease	mondo	OMIM:601816		BILIQTL1|bilirubin, serum level OF, quantitative trait locus 1; BILIQTL1	http://purl.obolibrary.org/obo/MONDO_0044270		http://identifiers.org/omim/601816
MONDO:0020269	obsolete syndromic ichthyosis associated with ocular features	biolink:Disease	mondo	UMLS:CN227843|Orphanet:98699		syndromic ichthyosis associated with ocular features|syndrome associated with ichthyosis associated with ocular features|syndrome associated with ichthyosis associated with ocular features	http://purl.obolibrary.org/obo/MONDO_0020269	A ichthyosis associated with ocular features that is part of a larger syndrome.	UMLS:CN227843|ORPHA:98699
MONDO:0044279	obsolete bone mineral density quantitative trait locus 15	biolink:Disease	mondo	OMIM:613418		bone mineral density quantitative trait locus 15; BMND15|compression fracture, susceptibility to|osteoporosis, susceptibility to|BMND15|metaphyseal fracture, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0044279		http://identifiers.org/omim/613418
MONDO:0020268	obsolete ichthyosis associated with ocular features	biolink:Disease	mondo	Orphanet:98698	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020268		ORPHA:98698
MONDO:0007289	cataract 13 with adult I phenotype	biolink:Disease	mondo	OMIM:116700|ICD10:Q12.0|DOID:0110242|UMLS:C3805373		cataract 13 with adult I phenotype|cataract 13 with ADULT I phenotype; CTRCT13|CTRCT13	http://purl.obolibrary.org/obo/MONDO_0007289	A cataract that has material basis in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24.	DOID:0110242|http://identifiers.org/omim/116700|UMLS:C3805373
MONDO:0020267	genetic keratinization disorder associated with ocular features	biolink:Disease	mondo	UMLS:CN227842|Orphanet:98697	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020267		UMLS:CN227842|ORPHA:98697
MONDO:0020266	genodermatosis with ocular features	biolink:Disease	mondo	Orphanet:98696	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020266		ORPHA:98696
MONDO:0007287	cataract 41	biolink:Disease	mondo	OMIM:116400|ICD10:Q12.0|UMLS:C3805412|DOID:0110241		cataract 41; CTRCT41|CTRCT41|congenital nuclear type cataract 41|cataract 41|WFS1 early-onset non-syndromic cataract|early-onset non-syndromic cataract caused by mutation in WFS1|cataract 41, congenital nuclear type|cataract type 41	http://purl.obolibrary.org/obo/MONDO_0007287	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the WFS1 gene.	DOID:0110241|http://identifiers.org/omim/116400|UMLS:C3805412
MONDO:0044276	obsolete skin/hair/eye pigmentation, variation in, 11	biolink:Disease	mondo	OMIM:612271		skin/hair/eye pigmentation, variation IN, 11; SHEP11|SHEP11|Melanesian blond hair|skin/hair/eye pigmentation 11, blue/Nonblue eyes	http://purl.obolibrary.org/obo/MONDO_0044276		http://identifiers.org/omim/612271
MONDO:0020265	mitochondrial disease with eye involvement	biolink:Disease	mondo	UMLS:CN207076|Orphanet:98695	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020265		UMLS:CN207076|ORPHA:98695
MONDO:0007288	cataract 6 multiple types	biolink:Disease	mondo	DOID:0110229|GARD:0010234|OMIM:116600|ICD10:Q12.0		cataract, age-related cortical, 2|CTRCT6|cataract 6, multiple types|CTPA|cataract 6, multiple types; CTRCT6|CTPP|Posterior polar cataract, 1|age related cortical cataract 2|cataract (disease) caused by mutation in EPHA2|ARCC2|cataract, posterior polar, 1|CTPP1|EPHA2 cataract (disease)|posterior polar cataract 1	http://purl.obolibrary.org/obo/MONDO_0007288	Any cataract (disease) in which the cause of the disease is a mutation in the EPHA2 gene.	DOID:0110229|http://identifiers.org/omim/116600
MONDO:0020264	obsolete spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly	biolink:Disease	mondo	Orphanet:98694	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020264		ORPHA:98694
MONDO:0044275	obsolete carotid intimal medial thickness 1	biolink:Disease	mondo	OMIM:609338		Cimt1|intimal medial thickness of internal carotid artery|carotid intimal medial thickness 1	http://purl.obolibrary.org/obo/MONDO_0044275		http://identifiers.org/omim/609338
MONDO:0007285	cataract 1 multiple types	biolink:Disease	mondo	OMIM:116200|ICD10:Q12.0|DOID:0110231|UMLS:C1861828|MESH:C566158		zonular pulverulent cataract 1|cataract, zonular pulverulent, 1|cataract 1, multiple types|CTRCT1|GJA8 cataract (disease)|cataract 1, multiple types; CTRCT1|cataract, Duffy-linked|CAE1|cataract 1, multiple types, with or without microcornea|CZP1|cataract (disease) caused by mutation in GJA8|Duffy linked cataract	http://purl.obolibrary.org/obo/MONDO_0007285	Any cataract (disease) in which the cause of the disease is a mutation in the GJA8 gene.	DOID:0110231|http://identifiers.org/omim/116200|MESH:C566158|UMLS:C1861828
MONDO:0044278	obsolete short sleeper	biolink:Disease	mondo	OMIMPS:612975		short sleep phenotype|short sleeper	http://purl.obolibrary.org/obo/MONDO_0044278	In a review of various classification schemes for sleep disorders, {2:Thorpy (1990)} listed 'short sleeper' under the broad category of 'disorders of initiating and maintaining sleep' (DIMS); however, the short sleeper phenotype or trait is not considered a sleep disorder. Individuals with this trait require less sleep in any 24-hour period than is typical for their age group.nnSee also familial advanced sleep-phase syndrome (FASPS; OMIM:604348), which is a distinct disorder characterized by very early sleep onset and offset.	
MONDO:0020263	obsolete spinocerebellar ataxia with oculomotor anomaly	biolink:Disease	mondo	Orphanet:98693	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020263		ORPHA:98693
MONDO:0044277	obsolete uric acid concentration, serum, quantitative trait locus 4	biolink:Disease	mondo	OMIM:612671		UAQTL4|uric acid concentration, serum, quantitative trait locus 4; UAQTL4|gout susceptibility 4	http://purl.obolibrary.org/obo/MONDO_0044277		http://identifiers.org/omim/612671
MONDO:0007286	cataract 30	biolink:Disease	mondo	MESH:C566157|DOID:0110248|UMLS:C3805411|ICD10:Q12.0|OMIM:116300		cataract Coppock-like|cataract 30, pulverulent|cataract type 30|cataract 30 pulverulent|cataract 30|cataract 30, multiple types|dusty cataract|cataract 30, multiple types; CTRCT30|CTRCT30|cataract 30; CTRCT30	http://purl.obolibrary.org/obo/MONDO_0007286	A cataract that has material basis in heterozygous mutation in the VIM gene on chromosome 10p13.	DOID:0110248|http://identifiers.org/omim/116300|UMLS:C3805411|MESH:C566157
MONDO:0020262	obsolete nervous system anomaly with eye involvement	biolink:Disease	mondo	Orphanet:98692	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020262		ORPHA:98692
MONDO:0007283	cataract 42	biolink:Disease	mondo	DOID:0110237|UMLS:C4011454|OMIM:115900|ICD10:Q12.0		early-onset non-syndromic cataract caused by mutation in CRYBA2|CTRCT42|cataract 42; CTRCT42|CRYBA2 early-onset non-syndromic cataract|cataract type 42|cataract 42|A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35.	http://purl.obolibrary.org/obo/MONDO_0007283	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA2 gene.	UMLS:C4011454|http://identifiers.org/omim/115900|DOID:0110237
MONDO:0007284	cataract 20 multiple types	biolink:Disease	mondo	ICD10:Q12.0|OMIM:116100|DOID:0110240		CRYGS cataract (disease)|CTRCT20|cataract 20, multiple types; CTRCT20|cataract 20, multiple types|cataract (disease) caused by mutation in CRYGS	http://purl.obolibrary.org/obo/MONDO_0007284	Any cataract (disease) in which the cause of the disease is a mutation in the CRYGS gene.	DOID:0110240|http://identifiers.org/omim/116100
HGNC:30185	CRBN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30185		
MONDO:0007281	cataract 4 multiple types	biolink:Disease	mondo	DOID:0110234|ICD10:Q12.0|OMIM:115700		CRYGD cataract (disease)|cataract, congenital, cerulean type, 3|cataract 4 multiple types with or without microcornea|cataract 4, multiple types|cataract, Nonnuclear polymorphic congenital|cataract, crystalline aculeiform|cataract, punctate, progressive juvenile-onset|CTRCT4|cataract 4, multiple types; CTRCT4|congenital cataract cerulean type 3|cataract 4, multiple types, with or without microcornea|CCA3|cataract (disease) caused by mutation in CRYGD	http://purl.obolibrary.org/obo/MONDO_0007281	Any cataract (disease) in which the cause of the disease is a mutation in the CRYGD gene.	http://identifiers.org/omim/115700|DOID:0110234
HGNC:29186	ANKRD26	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29186		
MONDO:0007282	cataract 29	biolink:Disease	mondo	UMLS:C3805409|ICD10:Q12.0|DOID:0110232|OMIM:115800		cataract 29; CTRCT29|cataract type 29|CTRCT29|cataract 29, coralliform|cataract 29 coralliform|cataract 29	http://purl.obolibrary.org/obo/MONDO_0007282	A cataract that has material basis in variation in the region 2pter-p24.	http://identifiers.org/omim/115800|UMLS:C3805409|DOID:0110232
MONDO:0007280	cataract 8 multiple types	biolink:Disease	mondo	UMLS:C1861833|OMIM:115665|MESH:C538285|Orphanet:98983|ICD10:Q12.0|GARD:0001146|DOID:0110228		CCV|cataract 8, multiple types|cataract congenital Volkmann type|cataract 8, multiple types; CTRCT8|CTRCT8|cataract, congenital, Volkmann type	http://purl.obolibrary.org/obo/MONDO_0007280	A cataract that has material basis in variation in the region 1pter-p36.13.	http://identifiers.org/omim/115665|MESH:C538285|UMLS:C1861833|ORPHA:98983|DOID:0110228
HGNC:29182	CEP164	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29182		
MONDO:0020259	myopathy with eye involvement	biolink:Disease	mondo	Orphanet:98689	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020259		ORPHA:98689
MONDO:0019279	obsolete alopecia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019279		
MONDO:0019276	inherited epidermolysis bullosa	biolink:Disease	mondo	ICD10:Q81.0|ICD10:Q81.2|ICD10:Q81.1|SCTID:402781004|ICD10:Q81.9|Orphanet:79361|ICD10:Q81.8|ICD9:757.39	ordo_group_of_disorders	epidermolysis bullosa hereditaria|hereditary epidermolysis bullosa	http://purl.obolibrary.org/obo/MONDO_0019276	Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues.	ORPHA:79361|UMLS:C1274224|SNOMEDCT:402781004
MONDO:0019275	other genetic epidermal disease	biolink:Disease	mondo	UMLS:CN205922|Orphanet:79360	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019275		ORPHA:79360|UMLS:CN205922
MONDO:0019278	hair anomaly	biolink:Disease	mondo	Orphanet:79363	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019278		ORPHA:79363
MONDO:0019277	epidermal appendage anomaly	biolink:Disease	mondo	Orphanet:79362	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019277		ORPHA:79362
MONDO:0020250	autosomal dominant optic atrophy	biolink:Disease	mondo	UMLS:C0338508|ICD10:H47.2|GARD:0011972|MESH:D029241|SCTID:2065009|NCIT:C84577|Orphanet:98672	ordo_group_of_disorders	dominant optic atrophy|DOA|ADOA|optic atrophy, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0020250	An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss.	NCIT:C84577|ORPHA:98672|UMLS:C0338508|SNOMEDCT:2065009|MESH:D029241
MONDO:0019261	infantile neuronal ceroid lipofuscinosis	biolink:Disease	mondo	SCTID:58258004|ICD10:E75.4|Orphanet:79263	ordo_disease	Santavuori disease|infantile NCL|Hagberg-Santavuori disease|INCL|Santavuori-Haltia disease	http://purl.obolibrary.org/obo/MONDO_0019261	Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities.	ORPHA:79263|SNOMEDCT:58258004|UMLS:C2931673|UMLS:C0268281|MESH:C537948
MONDO:0044283	obsolete body mass index quantitative trait locus 18	biolink:Disease	mondo	OMIM:615457		obesity, susceptibility to|BMIQ18|body MASS index quantitative trait locus 18; BMIQ18	http://purl.obolibrary.org/obo/MONDO_0044283		http://identifiers.org/omim/615457
MONDO:0019260	adult neuronal ceroid lipofuscinosis	biolink:Disease	mondo	SCTID:62009002|UMLS:C0022797|ICD10:E75.4|Orphanet:79262|GARD:0010973|UMLS:CN205864	gard_rare|ordo_disease	CLN4 disease, adult autosomal dominant|Kufs disease|neuronal ceroid lipofuscinosis 4|adult NCL|ANCL|Kuf's disease|neuronal ceroid lipofuscinosis of adults	http://purl.obolibrary.org/obo/MONDO_0019260	Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration.	ORPHA:79262|UMLS:C0022797|UMLS:C2931675|UMLS:CN205864|SNOMEDCT:62009002|MESH:C537950
MONDO:0044282	obsolete blood group, vel system	biolink:Disease	mondo	OMIM:615264		Vel-null phenotype|blood group, VEL system; VEL|VEL	http://purl.obolibrary.org/obo/MONDO_0044282	The Vel blood group system is defined by the presence of the Vel antigen on red blood cells. Vel is a high frequency antigen that shows variable strength, ranging from strong to weak. The rare Vel-negative blood type is inherited as an autosomal recessive trait and is typically unveiled when Vel-negative individuals develop anti-Vel antibodies after transfusion or pregnancy; Vel alloantibodies are never 'naturally occurring.' Individuals with anti-Vel antibodies may develop severe acute hemolytic transfusion reactions when transfused with Vel-positive blood. Individuals negative for the Vel antigen are rare and are required for the safe transfusion of patients with antibodies to Vel (summary by {3:Daniels, 2002}; {5:Storry et al., 2013}; {2:Cvejic et al., 2013}; {1:Ballif et al., 2013}).	http://identifiers.org/omim/615264
MONDO:0019263	autosomal erythropoietic protoporphyria	biolink:Disease	mondo	ICD10:E80.0|Orphanet:79278|MedDRA:10015289	ordo_disease	EPP	http://purl.obolibrary.org/obo/MONDO_0019263	Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.	ORPHA:79278|MEDDRA:10015289|UMLS:C0162568
GO:0042391	regulation of membrane potential	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0042391	Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane.	
MONDO:0019262	juvenile neuronal ceroid lipofuscinosis	biolink:Disease	mondo	SCTID:61663001|DOID:0050756|Orphanet:79264|ICD10:E75.4|MedDRA:10052073	ordo_disease	juvenile neuronal ceroid lipofuscinosis|juvenile NCL|Spielmeyer-Vogt disease|batten disease|JNCL	http://purl.obolibrary.org/obo/MONDO_0019262	Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities.	DOID:0050756|ORPHA:79264|SNOMEDCT:61663001|MEDDRA:10052073
RO:0002380	branching part of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002380	x is a branching part of y if and only if x is part of y and x is connected directly or indirectly to the main stem of y	
MONDO:0044284	obsolete blood group, gerbich system	biolink:Disease	mondo	OMIM:616089		blood group, Gerbich system; GE|Gerbich blood Group system|GE	http://purl.obolibrary.org/obo/MONDO_0044284	The Gerbich blood group system contains 6 high-prevalence and 5 low-prevalence antigens that are expressed on glycophorin C (GPC), glycophorin D (GPD), or both GPC and GPD. GPC and GPD, which contribute stability to the red blood cell membrane, are encoded by the same gene, GYPC, through the use of alternative translational start sites. Deficiency of GPC and GPD is associated with hereditary elliptocytosis, and Gerbich antigens act as receptors for the malarial parasite Plasmodium falciparum (see OMIM:611162). The Gerbich antibodies anti-Ge2 and anti-Ge3 have caused hemolytic transfusion reactions, and anti-Ge3 has produced hemolytic disease of the fetus and newborn (review by {12:Walker and Reid, 2010}).	http://identifiers.org/omim/616089
MONDO:0044281	obsolete c3hex, ability to smell	biolink:Disease	mondo	OMIM:615082		C3HEX, ability to smell	http://purl.obolibrary.org/obo/MONDO_0044281	Cis-3-hexen-1-ol (C3HEX) is present in a wide range of foods and beverages, including wine and spirits, olive oil, vegetables, fruit, and green tea. C3HEX is commonly associated with sensory characteristics such as 'green' and 'grassy.' The probability of an individual's ability to detect C3HEX at a particular intensity (the R-index) can be estimated, and the threshold for detection is normally distributed (summary by {1:Jaeger et al., 2010}).	http://identifiers.org/omim/615082
MONDO:0044280	obsolete glycerol quantitative trait locus	biolink:Disease	mondo	OMIM:614411		Glycerol release during exercise, defective|GLYCEROL quantitative trait locus; GLYCQTL|GLYCQTL|body Mass index quantitative trait locus 17	http://purl.obolibrary.org/obo/MONDO_0044280		http://identifiers.org/omim/614411
GO:0042398	cellular modified amino acid biosynthetic process	biolink:OntologyClass	mondo			cellular modified amino acid anabolism|cellular amino acid derivative synthesis|amino acid derivative biosynthetic process|cellular modified amino acid synthesis|cellular amino acid derivative formation|cellular modified amino acid formation|cellular modified amino acid biosynthesis|cellular amino acid derivative biosynthetic process|cellular amino acid derivative biosynthesis|cellular amino acid derivative anabolism	http://purl.obolibrary.org/obo/GO_0042398	The chemical reactions and pathways resulting in the formation of compounds derived from amino acids, organic acids containing one or more amino substituents.	
RO:0002385	has potential to developmentally contribute to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002385	x has potential to developmentrally contribute to y iff x developmentally contributes to y or x is capable of developmentally contributing to y	
MONDO:0020258	oculomotor apraxia or related oculomotor disease	biolink:Disease	mondo	UMLS:CN207073|Orphanet:98688	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020258		UMLS:CN207073|ORPHA:98688
MONDO:0020257	supranuclear oculomotor palsy	biolink:Disease	mondo	GARD:0008403|Orphanet:98687	gard_rare|ordo_group_of_disorders	conjugate gaze palsy|supranuclear disorder of eye movement|gaze palsy|supranuclear ocular palsy	http://purl.obolibrary.org/obo/MONDO_0020257	Oculomotor palsy that arises from lesions in the supranuclear pathways controlling extraocular movement.	ORPHA:98687
RO:0002386	has potential to developmentally induce	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002386	x has potential to developmentally induce y iff x developmentally induces y or x is capable of developmentally inducing y	
RO:0002387	has potential to develop into	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002387	x has the potential to develop into y iff x develops into y or if x is capable of developing into y	
MONDO:0020256	congenital trochlear nerve palsy	biolink:Disease	mondo	ICD10:H49.1|Orphanet:98686	ordo_disease	congenital fourth cranial nerve palsy|congenital CNIV palsy|congenital superior oblique palsy	http://purl.obolibrary.org/obo/MONDO_0020256		ORPHA:98686
RO:0002388	has potential to directly develop into	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002388	x has potential to directly develop into y iff x directly develops into y or x is capable of directly developing into y	
MONDO:0020255	obsolete oculomotor palsy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0020255		
MONDO:0007298	spinocerebellar ataxia type 29	biolink:Disease	mondo	Orphanet:208513|SCTID:715825009|OMIM:117360|DOID:0050978|GARD:0010480|UMLS:C1861732|ICD10:G11.0|MESH:C537206|UMLS:C4274987	ordo_disease	cerebellar ataxia early-onset nonprogressive|aplasia of cerebellar vermis|SCA29|ACV|spinocerebellar ataxia 29; SCA29|spinocerebellar ataxia 29|cerebellar ataxia, congenital nonprogressive, autosomal dominant|congenital nonprogressive spinocerebellar ataxia|spinocerebellar ataxia type 29|cerebellar vermis aplasia	http://purl.obolibrary.org/obo/MONDO_0007298	Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.	DOID:0050978|http://identifiers.org/omim/117360|SNOMEDCT:715825009|MESH:C537206|UMLS:C4274987|UMLS:C1861732|ORPHA:208513
MONDO:0020254	obsolete craniostenosis associated with a strabismus	biolink:Disease	mondo	Orphanet:98684	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020254		ORPHA:98684
MONDO:0020253	syndrome with a symptomatic strabismus	biolink:Disease	mondo	Orphanet:98683|UMLS:CN207072	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020253		UMLS:CN207072|ORPHA:98683
MONDO:0007299	Sotos syndrome 1	biolink:Disease	mondo	SCTID:75968004|OMIM:117550|UMLS:CN035106		cerebral gigantism|Sotos syndrome 1; SOTOS1|Sotos syndrome type 1|SOTOS1|chromosome 5Q35 deletion syndrome|Sotos syndrome caused by mutation in NSD1|Sotos syndrome|Sotos syndrome 1|NSD1 Sotos syndrome	http://purl.obolibrary.org/obo/MONDO_0007299	Any Sotos syndrome in which the cause of the disease is a mutation in the NSD1 gene.	http://identifiers.org/omim/117550|UMLS:CN035106|SNOMEDCT:75968004
MONDO:0007296	spinocerebellar ataxia type 31	biolink:Disease	mondo	ICD10:G11.8|DOID:0050980|GARD:0009975|Orphanet:217012|SCTID:715826005|OMIM:117210|UMLS:C1861736|UMLS:C4274986|MESH:C566146	ordo_disease	spinocerebellar ataxia 16q22-linked|SCA31|spinocerebellar ataxia 31|spinocerebellar ataxia, 16Q22-linked|spinocerebellar ataxia type 31|spinocerebellar ataxia 31; SCA31	http://purl.obolibrary.org/obo/MONDO_0007296	Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.	http://identifiers.org/omim/117210|ORPHA:217012|SNOMEDCT:715826005|MESH:C566146|UMLS:C4274986|UMLS:C1861736|DOID:0050980
MONDO:0020252	essential strabismus	biolink:Disease	mondo	Orphanet:98682	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0020252		ORPHA:98682
RO:0002384	has developmental potential involving	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002384	x has developmental potential involving y iff x is capable of a developmental process with output y. y may be the successor of x, or may be a different structure in the vicinity (as for example in the case of developmental induction).	
MONDO:0007297	ADan amyloidosis	biolink:Disease	mondo	Orphanet:97346|DOID:0070030|ICD10:E85.4+|GARD:0009169|MESH:C538209|ICD10:I68.0*|UMLS:C1861735|OMIM:117300	ordo_clinical_subtype	dementia, familial Danish|ITM2B-related cerebral amyloid angiopathy 2|cerebellar ataxia, cataract, deafness, and dementia or psychosis|HOOE|Heredopathia Ophthalmootoencephalica|cerebral amyloid angiopathy, ITM2B-RELATED, 2|cerebral amyloid angiopathy, ITM2B-related, type 2|cerebellar ataxia, cataract, deafness, and dementia Or psychosis|FDD|familial Danish dementia|familial dementia, Danish type	http://purl.obolibrary.org/obo/MONDO_0007297	A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2.	http://identifiers.org/omim/117300|DOID:0070030|MESH:C538209|UMLS:C1861735|ORPHA:97346
MONDO:0020251	rare strabismus and restriction syndrome	biolink:Disease	mondo	Orphanet:98681|UMLS:CN207070	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020251		ORPHA:98681|UMLS:CN207070
MONDO:0007294	central core myopathy	biolink:Disease	mondo	UMLS:C0751951|OMIM:117000|Orphanet:597|EFO:1000855|GARD:0006014|DOID:3529|SCTID:43152001|ICD10:G71.2|NCIT:C83010|MESH:D020512	ordo_disease	multicore myopathy, moderate, with hand involvement|central core disease|Cco|central CORE disease of muscle; CCD|minicore myopathy, moderate, with hand involvement|multiminicore disease, moderate, with hand involvement|muscle core disease|central CORE disease of muscle|CCD|neuromuscular disease, congenital, with uniform type 1 Fiber|myopathy, central fibrillar|Shy-Magee syndrome|muscular central core disease|myopathy, central core	http://purl.obolibrary.org/obo/MONDO_0007294	An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation.	UMLS:C0751951|NCIT:C83010|MESH:D020512|SNOMEDCT:43152001|ORPHA:597|DOID:3529|http://identifiers.org/omim/117000
MONDO:0007295	rolandic epilepsy	biolink:Disease	mondo	ICD9:345.80|SCTID:44145005|NCIT:C116538|DOID:3329|Orphanet:1945|UMLS:C0376532|OMIM:117100|UMLS:C2363129|UMLS:CN200685|ICD10:G40.0|GARD:0010287	gard_rare|ordo_disease	temporal-central focal epilepsy|BRE|centrotemporal epilepsy|sylvan seizures|benign rolandic epilepsy|BECRS|benign rolandic epilepsy (BRE)|benign Rolandic epilepsy|BECTS|rolandic epilepsy|benign epilepsy with centrotemporal spikes|benign epilepsy with centro-temporal spikes (BECTS)|CENTRALOPATHIC epilepsy|benign childhood epilepsy with centrotemporal spike|benign epilepsy of childhood with centrotemporal spikes (BECCT)|benign rolandic epilepsy of childhood (BREC)|BCECTS|benign childhood epilepsy with centrotemporal spikes|benign familial epilepsy of childhood with rolandic spikes|benign epilepsy of childhood with centrotemporal spikes	http://purl.obolibrary.org/obo/MONDO_0007295	Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome.	http://identifiers.org/omim/117100|SNOMEDCT:44145005|UMLS:C0376532|UMLS:C2363129|NCIT:C116538|UMLS:CN200685|ORPHA:1945|DOID:3329
MONDO:0007292	celiac artery stenosis from compression by median arcuate ligament of diaphragm	biolink:Disease	mondo	UMLS:C1861783|MESH:C566151|OMIM:116870		celiac artery stenosis from compression by median arcuate ligament of diaphragm	http://purl.obolibrary.org/obo/MONDO_0007292		http://identifiers.org/omim/116870|MESH:C566151|UMLS:C1861783
HGNC:30171	HSPB8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30171		
MONDO:0007293	leukocyte adhesion deficiency 1	biolink:Disease	mondo	SCTID:234582006|OMIM:116920|NCIT:C4689|Orphanet:99842|UMLS:C0398738|MESH:C535887|GARD:0006893|ICD10:D84.8|DOID:0110910	ordo_clinical_subtype	lad-I|LFA1 immunodeficiency|lad-type I|Lad1|leukocyte adhesion deficiency type I|leukocyte adhesion deficiency type 1|lymphocyte function-associated antigen 1 immunodeficiency|ITGB2 leukocyte adhesion deficiency|Lfa1 immunodeficiency|LAD1|leukocyte adhesion deficiency, type I|leukocyte adhesion deficiency caused by mutation in ITGB2|lad 1|leukocyte adhesion deficiency, type 1|LFA 1 immunodeficiency|lad|LFA-I deficiency|leukocyte adhesion deficiency, type I; lad	http://purl.obolibrary.org/obo/MONDO_0007293	Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections.	MESH:C535887|DOID:0110910|http://identifiers.org/omim/116920|NCIT:C4689|ORPHA:99842|UMLS:C0398738|SNOMEDCT:234582006
HGNC:30172	STRADA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30172		
MONDO:0007290	cataract 5 multiple types	biolink:Disease	mondo	MESH:C535342|DOID:0110255|ICD10:Q12.0|OMIM:116800		cataract 5, multiple types|HSF4 cataract (disease)|CTRCT5|cataract 5, multiple types; CTRCT5|cataract (disease) caused by mutation in HSF4|cataract, Marner type|cataract, lamellar	http://purl.obolibrary.org/obo/MONDO_0007290	Any cataract (disease) in which the cause of the disease is a mutation in the HSF4 gene.	http://identifiers.org/omim/116800|MESH:C535342|DOID:0110255
MONDO:0007291	familial cerebral cavernous malformation	biolink:Disease	mondo	SCTID:717003001|ICD10:Q28.3|Orphanet:221061|UMLS:C2931263	ordo_malformation_syndrome	hereditary brain cavernous hemangioma|hereditary cerebral cavernoma|hyperkeratotic cutaneous capillary-Venous malformations associated with cerebral capillary malformations|cerebral capillary malformations|cavernous angioma, familial|cavernous angiomatous malformations|cerebral cavernous malformations; CCM|CCM|familial brain cavernous angioma|cerebral cavernous malformations|familial brain cavernous hemangioma|familial cerebral cavernoma|hereditary cerebral cavernous malformation|cavernous malformations of CNS and retina|hereditary brain cavernous angioma	http://purl.obolibrary.org/obo/MONDO_0007291	Familial cerebral cavernous malformation (FCCM) is a rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages.	ORPHA:221061|UMLS:C2931263|SNOMEDCT:717003001
RO:0002379	spatially coextensive with	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002379	x spatially_coextensive_with y if and inly if x and y have the same location	
MONDO:0020249	hereditary optic neuropathy	biolink:Disease	mondo	MedDRA:10061323|Orphanet:98671	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020249		MEDDRA:10061323|ORPHA:98671
MONDO:0020248	vitreoretinal degeneration	biolink:Disease	mondo	ICD10:H35.5|UMLS:C0344290|Orphanet:98670|GARD:0005506|HP:0007964|SCTID:247182006	gard_rare|ordo_group_of_disorders	degenerative vitreoretinopathy	http://purl.obolibrary.org/obo/MONDO_0020248		UMLS:C0344290|SNOMEDCT:247182006|ORPHA:98670
MONDO:0019269	ichthyosis (disease)	biolink:Disease	mondo	MedDRA:10021198|DOID:1697|HP:0008064|Orphanet:79354|UMLS:C0020757|NCIT:C84776|MESH:D007057	ordo_group_of_disorders	fish scale disease|ichthyosis|non-syndromic ichthyosis|ichthyoses|fish skin disease	http://purl.obolibrary.org/obo/MONDO_0019269	Disorders of cornification that are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, affect most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Acquired forms of ichthyosis can be observed with certain autoimmune, inflammatory, metabolic, endocrine, or infectious diseases or with malignancies.	MESH:D007057|MEDDRA:10021198|ORPHA:79354|DOID:1697|NCIT:C84776|UMLS:C0020758|UMLS:C0020757
GO:0030343	vitamin D3 25-hydroxylase activity	biolink:OntologyClass	mondo			cholecalciferol 25-hydroxylase activity	http://purl.obolibrary.org/obo/GO_0030343	Catalysis of the reaction: vitamin D3 + NADPH + H+ + O2 = calcidiol + NADP+ + H2O.	
MONDO:0019268	epidermal disease	biolink:Disease	mondo	UMLS:CN205920|Orphanet:79353	ordo_group_of_disorders	rare epidermal disease|epidermal disease	http://purl.obolibrary.org/obo/MONDO_0019268	A skin disease that involves the epidermis.	ORPHA:79353|UMLS:CN205920
MONDO:0019265	diazoxide-resistant focal hyperinsulinism	biolink:Disease	mondo	ICD10:E16.1|Orphanet:79298	ordo_group_of_disorders	hyperinsulinemic hypoglycemia, diazoxide-resistant focal form	http://purl.obolibrary.org/obo/MONDO_0019265	Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion.	ORPHA:79298
MONDO:0019264	alpha-N-acetylgalactosaminidase deficiency type 3	biolink:Disease	mondo	ICD10:E77.1|UMLS:C1836545|Orphanet:79281	ordo_clinical_subtype	NAGA deficiency type 3|Schindler disease type 3	http://purl.obolibrary.org/obo/MONDO_0019264	Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age.	ORPHA:79281|UMLS:C1836545
MONDO:0019267	vitamin B12-unresponsive methylmalonic acidemia type mut-	biolink:Disease	mondo	SCTID:237946002|UMLS:CN205894|ICD10:E71.1|Orphanet:79312	ordo_clinical_subtype	partial deficiency of methylmalonyl-CoA mutase|vitamin B12-unresponsive methylmalonic aciduria type mut-	http://purl.obolibrary.org/obo/MONDO_0019267	Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.	SNOMEDCT:237946002|ORPHA:79312|UMLS:CN205894
MONDO:0019266	SAPHO syndrome	biolink:Disease	mondo	MedDRA:10051316|ICD9:706.1|EFO:1001164|DOID:13677|SCTID:60684003|Orphanet:793|NCIT:C119049|UMLS:C0263859|MESH:D020083|ICD10:M86.3|GARD:0007606	gard_rare|ordo_disease	PPHS|Pustulo-psoriatic hyperostotic Spondyloarthritis|synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome|synovitis-acne-pustulosis-hyperostosis-osteitis syndrome|synovitis, acne, Pustlosis, hyperostosis, and osteomyelitis|synovitis acne pustulosis hyperostosis osteitis|acquired hyperostosis syndrome|synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome	http://purl.obolibrary.org/obo/MONDO_0019266	SAPHO syndrome (acronym for Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) is an auto-inflammatory disease, mainly characterized by the association of neutrophilic cutaneous involvement and chronic osteomyelitis.	MEDDRA:10051316|ORPHA:793|DOID:13677|UMLS:C0263859|MESH:D020083|NCIT:C119049|SNOMEDCT:60684003
CHEBI:149689	D-dopa zwitterion	biolink:ChemicalSubstance	mondo			(2R)-2-ammonio-3-(3,4-dihydroxyphenyl)propanoate|(2R)-2-azaniumyl-3-(3,4-dihydroxyphenyl)propanoate|D-dopa	http://purl.obolibrary.org/obo/CHEBI_149689	An amino acid zwitterion obtained from the transfer of a proton from the carboxy group to the amino group of D-dopa. Major microspecies at pH 7.3.	
HGNC:17185	ASB10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17185		
GO:0030336	negative regulation of cell migration	biolink:OntologyClass	mondo			downregulation of cell migration|down regulation of cell migration|inhibition of cell migration|down-regulation of cell migration	http://purl.obolibrary.org/obo/GO_0030336	Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration.	
GO:0030334	regulation of cell migration	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0030334	Any process that modulates the frequency, rate or extent of cell migration.	
GO:0032997	Fc receptor complex	biolink:OntologyClass	mondo			immunoglobulin receptor complex|Fc-receptor complex|FcR complex	http://purl.obolibrary.org/obo/GO_0032997	A protein complex composed of a subunit or subunits capable of binding the Fc portion of an immunoglobulin with additional signaling components. The complex functions as a receptor for immunoglobulin.	
GO:0030335	positive regulation of cell migration	biolink:OntologyClass	mondo			activation of cell migration|upregulation of cell migration|up regulation of cell migration|stimulation of cell migration|up-regulation of cell migration	http://purl.obolibrary.org/obo/GO_0030335	Any process that activates or increases the frequency, rate or extent of cell migration.	
RO:0002374	has_fused_element	biolink:OntologyClass	mondo			has fused element	http://purl.obolibrary.org/obo/RO_0002374	x has_fused_element y iff: there exists some z : x has_part z, z homologous_to y, and y is a distinct element, the boundary between x and z is largely fiat	
MONDO:0044214	obsolete androstenone, ability to smell	biolink:Disease	mondo	OMIM:105570		ANDROSTENONE, ability to smell	http://purl.obolibrary.org/obo/MONDO_0044214		http://identifiers.org/omim/105570
MONDO:0044213	acute idiopathic urticaria	biolink:Disease	mondo	UMLS:C0578869|SCTID:302161006		idiopathic urticaria, acute|acute idiopathic urticaria	http://purl.obolibrary.org/obo/MONDO_0044213	Acute form of idiopathic urticaria.	UMLS:C0578869|SNOMEDCT:302161006
RO:0002375	in branching relationship with	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002375	A relationship that holds between two material entities in a system of connected structures, where the branching relationship holds based on properties of the connecting network.	
MONDO:0044216	obsolete artichoke, modification of taste by	biolink:Disease	mondo	OMIM:108320		artichoke, modification of taste by	http://purl.obolibrary.org/obo/MONDO_0044216		http://identifiers.org/omim/108320
RO:0002376	tributary of	biolink:OntologyClass	mondo			drains into	http://purl.obolibrary.org/obo/RO_0002376	x tributary_of y if and only if x a channel for the flow of a substance into y, where y is larger than x. If x and y are hydrographic features, then y is the main stem of a river, or a lake or bay, but not the sea or ocean. If x and y are anatomical, then y is a vein.	
MONDO:0044215	obsolete arm folding preference	biolink:Disease	mondo	OMIM:107850		ARM folding preference	http://purl.obolibrary.org/obo/MONDO_0044215		http://identifiers.org/omim/107850
MONDO:0044210	thalassemia minor	biolink:Disease	mondo	SCTID:19442009|ICD10:D56.3|MedDRA:10054662|SCDO:0000114		beta thalassemia trait	http://purl.obolibrary.org/obo/MONDO_0044210	The inheritance of only one mutated beta-globin allele (beta+ or beta0).	SNOMEDCT:19442009|MEDDRA:10054662
RO:0002371	attached to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002371	a is attached to b if and only if a and b are discrete objects or object parts, and there are physical connections between a and b such that a force pulling a will move b, or a force pulling b will move a	
MONDO:0044212	chronic idiopathic urticaria	biolink:Disease	mondo	SCTID:302162004|UMLS:C0578870		idiopathic urticaria, chronic|chronic idiopathic urticaria	http://purl.obolibrary.org/obo/MONDO_0044212	Chronic form of idiopathic urticaria.	SNOMEDCT:302162004|UMLS:C0578870
RO:0002372	has_muscle_origin	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002372	m has_muscle_origin s iff m is attaches_to s, and it is the case that when m contracts, s does not move. The site of the origin tends to be more proximal and have greater mass than what the other end attaches to.	
HGNC:29168	RPGRIP1L	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29168		
MONDO:0044211	idiopathic urticaria	biolink:Disease	mondo	SCTID:42265009|ICD9:708.1|ICD10:L50.1|UMLS:C0157741		idiopathic angioedema-urticaria	http://purl.obolibrary.org/obo/MONDO_0044211		UMLS:C0157741|SNOMEDCT:42265009
PATO:0002505	nucleated	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0002505	A nucleate quality inhering in a bearer by virtue of the bearer's having one or more nucleus.	
RO:0002373	has_muscle_insertion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002373	m has_muscle_insertion s iff m is attaches_to s, and it is the case that when m contracts, s moves. Insertions are usually connections of muscle via tendon to bone.	
MONDO:0044207	specific granule deficiency 1	biolink:Disease	mondo	OMIM:245480		specific granule deficiency caused by mutation in CEBPE|neutrophil lactoferrin deficiency|SGD1|specific granule deficiency 1; SGD1|CEBPE specific granule deficiency|lactoferrin-deficient neutrophils	http://purl.obolibrary.org/obo/MONDO_0044207	Any specific granule deficiency in which the cause of the disease is a mutation in the CEBPE gene.	http://identifiers.org/omim/245480
NCBITaxon:1437183	Mesangiospermae	organism taxon	mondo	GC_ID:1|PMID:25249442			http://purl.obolibrary.org/obo/NCBITaxon_1437183		
MONDO:0044206	otospondylomegaepiphyseal dysplasia, autosomal recessive	biolink:Disease	mondo	OMIM:215150		Nance-Insley syndrome|OSMEDB|OSMED|chondrodystrophy with sensorineural deafness|Nance-Sweeney chondrodysplasia|otospondylomegaepiphyseal dysplasia, autosomal recessive; OSMEDB|Weissenbacher-Zweymuller syndrome, formerly|Weissenbacher-Zweymuller syndrome	http://purl.obolibrary.org/obo/MONDO_0044206		http://identifiers.org/omim/215150
MONDO:0044209	disorder of lectin complement activation pathway	biolink:Disease	mondo	OMIMPS:614372		disorder of complement activation, lectin pathway|complement activation, lectin pathway disease|disorder of complement activation, lectin pathway	http://purl.obolibrary.org/obo/MONDO_0044209	A disease that has its basis in the disruption of complement activation, lectin pathway.	
HGNC:29160	FASTKD2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29160		
MONDO:0044208	specific granule deficiency 2	biolink:Disease	mondo	UMLS:C4479548|OMIM:617475		specific granule deficiency 2; SGD2|SGD2	http://purl.obolibrary.org/obo/MONDO_0044208	Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by {2:Witzel et al., 2017}).nnFor a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM:245480).	http://identifiers.org/omim/617475|UMLS:C4479548
GO:0032991	protein-containing complex	biolink:OntologyClass	mondo			protein-protein complex|protein containing complex|protein complex|macromolecular complex|macromolecule complex	http://purl.obolibrary.org/obo/GO_0032991	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.	
GO:0032990	cell part morphogenesis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0032990	The process in which the anatomical structures of a cell part are generated and organized.	
HGNC:17194	NDUFA13	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17194		
GO:0032989	cellular component morphogenesis	biolink:OntologyClass	mondo			cellular structure morphogenesis	http://purl.obolibrary.org/obo/GO_0032989	The process in which cellular structures, including whole cells or cell parts, are generated and organized.	
GO:0032987	protein-lipid complex disassembly	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0032987	The disaggregation of a protein-lipid complex into its constituent components.	
HGNC:17192	TIRAP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17192		
MONDO:0044225	obsolete creatine kinase, brain type, ectopic expression of	biolink:Disease	mondo	HGNC:1992		creatine KINASE, brain type, ectopic expression OF; CKBE|CKBE	http://purl.obolibrary.org/obo/MONDO_0044225		
MONDO:0044224	obsolete apocrine gland secretion, variation 1n	biolink:Disease	mondo	OMIM:117800		wet wax|apocrine gland secretion, variation IN|axillary odor, variation 1N|colostrum secretion, variation 1N|cerumen, variation 1N|Ear wax, wet/dry	http://purl.obolibrary.org/obo/MONDO_0044224		http://identifiers.org/omim/117800
MONDO:0044227	obsolete dimples, facial	biolink:Disease	mondo	OMIM:126100		dimples, FACIAL|cheek dimples|smiling dimples	http://purl.obolibrary.org/obo/MONDO_0044227		http://identifiers.org/omim/126100
MONDO:0044226	obsolete defective interfering particle induction, control of	biolink:Disease	mondo	HGNC:12678		Dipi, control of|vesicular stomatitis Virus defective interfering particle repressor|homologous viral interference|defective interfering particle induction, control OF	http://purl.obolibrary.org/obo/MONDO_0044226		
MONDO:0044221	obsolete blood group--lutheran inhibitor	biolink:Disease	mondo	OMIM:111150		blood group--Lutheran INHIBITOR; INLU|INLU|dominant 50U (A-B-) phenotype	http://purl.obolibrary.org/obo/MONDO_0044221		http://identifiers.org/omim/111150
MONDO:0044220	obsolete blood group, 1 system	biolink:Disease	mondo	OMIM:110800		adult I phenotype|blood group, I system; II|II|II blood Group system|I blood Group system	http://purl.obolibrary.org/obo/MONDO_0044220		http://identifiers.org/omim/110800
NCBITaxon:766764	Debaryomycetaceae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_766764		
MONDO:0044223	obsolete radin blood group antigen	biolink:Disease	mondo	OMIM:111620		RADIN blood group antigen; RD|blood Group--Radin antigen|RD	http://purl.obolibrary.org/obo/MONDO_0044223		http://identifiers.org/omim/111620
GO:0005381	iron ion transmembrane transporter activity	biolink:OntologyClass	mondo			iron channel activity|iron cation channel activity|iron transporter activity|transmembrane iron permease activity|zinc, iron permease activity|multicopper ferroxidase iron transport mediator activity|transmembrane iron ion permease activity	http://purl.obolibrary.org/obo/GO_0005381	Enables the transfer of iron (Fe) ions from one side of a membrane to the other.	
MONDO:0044222	obsolete blood group, p1pk system	biolink:Disease	mondo	OMIM:111400		P(1) phenotype|P phenotype|P(2) phenotype|Nor Polyagglutination syndrome|blood group, P1PK system|P1(K) phenotype|P2(K) phenotype	http://purl.obolibrary.org/obo/MONDO_0044222		http://identifiers.org/omim/111400
HGNC:29174	WASHC4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29174		
MONDO:0044218	obsolete beeturia	biolink:Disease	mondo	OMIM:109600		Betacyaninuria|BEETURIA	http://purl.obolibrary.org/obo/MONDO_0044218		http://identifiers.org/omim/109600
HP:0002503	Spinocerebellar tract degeneration	biolink:PhenotypicFeature	mondo	UMLS:C1866751		Degeneration of the spinocerebellar tracts|Spinocerebellar degeneration	http://purl.obolibrary.org/obo/HP_0002503		
MONDO:0044217	obsolete asparagus, specific smell hypersensitivity	biolink:Disease	mondo	OMIM:108390		asparagus, specific smell hypersensitivity	http://purl.obolibrary.org/obo/MONDO_0044217		http://identifiers.org/omim/108390
HGNC:29170	FAN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29170		
HP:0002500	Abnormality of the cerebral white matter	biolink:PhenotypicFeature	mondo	UMLS:C0948163|UMLS:C4020851|MSH:D049292		Cortical white matter abnormalities seen on MRI|Cerebral white matter abnormalities|White matter abnormalities|White matter alterations|Abnormality of subcortical white matter|Leukoaraiosis	http://purl.obolibrary.org/obo/HP_0002500	An abnormality of the cerebral white matter.	
MONDO:0044219	obsolete blood group, duffy system	biolink:Disease	mondo	OMIM:110700		Duffy blood Group system|blood group, DUFFY system; FY|FY|Plasmodium vivax, resistance to	http://purl.obolibrary.org/obo/MONDO_0044219	The Duffy blood group system, which consists of 4 alleles, 5 phenotypes, and 5 antigens, is important in clinical medicine because of transfusion incompatibilities and hemolytic disease of the newborn. Duffy antigens are located on ACKR1 (OMIM:613665), or DARC, an acidic glycoprotein found on erythrocytes and other cells throughout the body. The 2 principal antigens, Fy(a) and Fy(b), are produced by the FYA and FYB codominant alleles (see {613665.0001}). Four phenotypes are defined by the corresponding antibodies, anti-Fy(a) and anti-Fy(b): Fy(a+b-), Fy(a-b+), Fy(a+b+), and Fy(a-b-). Fy(a-b-), or Duffy null, is the major phenotype in African and American blacks and is characterized by the presence of Fy(b) on nonerythroid cells, but an absence of Fy(b) on erythrocytes. The Fy(a-b-) phenotype is associated with complete resistance to infection by the malarial parasite Plasmodium vivax (see OMIM:611162). Individuals with the Fy(a-b-) phenotype have the FYB-erythroid silent (FYB-ES) allele with a mutation in the DARC promoter ({613665.0002}). A fifth phenotype, Fy(bwk), or Fy(x), is characterized by weak Fy(b) expression on erythrocytes due to a reduced amount of protein. Individuals with the Fy(bwk) phenotype have the FYB-weak (FYB-WK) allele, also called the FYX allele, with a missense mutation in DARC ({613665.0003}). Other Duffy antigens include Fy3, Fy4, Fy5, and Fy6 (reviews by {21:Pogo and Chaudhuri (2000)}, {10:Langhi and Bordin (2006)}, and {14:Meny (2010)}).	http://identifiers.org/omim/110700
NCBITaxon:1437197	Petrosaviidae	organism taxon	mondo	GC_ID:1|PMID:26350789			http://purl.obolibrary.org/obo/NCBITaxon_1437197		
GO:0032984	protein-containing complex disassembly	biolink:OntologyClass	mondo			macromolecule complex disassembly|cellular macromolecule complex disassembly|protein complex disassembly	http://purl.obolibrary.org/obo/GO_0032984	The disaggregation of a protein-containing macromolecular complex into its constituent components.	
HGNC:17198	CHSY1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17198		
GO:0030316	osteoclast differentiation	biolink:OntologyClass	mondo			osteoclast cell differentiation	http://purl.obolibrary.org/obo/GO_0030316	The process in which a relatively unspecialized monocyte acquires the specialized features of an osteoclast. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue.	
MONDO:0044230	obsolete epiblepharon of upper 51d	biolink:Disease	mondo	OMIM:131460		epiblepharon of upper lid	http://purl.obolibrary.org/obo/MONDO_0044230		http://identifiers.org/omim/131460
GO:0030317	flagellated sperm motility	biolink:OntologyClass	mondo			sperm flagellum movement involved in flagellated sperm movement|sperm flagellum movement involved in flagellated sperm motility|flagellated sperm movement|sperm movement|sperm flagellum movement|sperm motility	http://purl.obolibrary.org/obo/GO_0030317	The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm.	
GO:0030312	external encapsulating structure	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0030312	A structure that lies outside the plasma membrane and surrounds the entire cell or cells. This does not include the periplasmic space.	
MONDO:0044236	obsolete hepatitis b vaccine, response to	biolink:Disease	mondo	OMIM:142395		HBV vaccine, response to|HEPATITIS B vaccine, response to	http://purl.obolibrary.org/obo/MONDO_0044236	More than 2 billion people have been infected with the hepatitis B virus (HBV; see OMIM:610424), and more than 350 million of these people are chronic carriers. Each year more than half a million die as a result of acute or chronic HBV infection. Vaccination has been highly successful at preventing new HBV infections and has been implemented into the national immunization programs of more than 150 countries. However, the immune response to HBV vaccination varies greatly among individuals, with 5 to 10% of healthy adults failing to produce protective levels of antibodies. Several factors have been implicated in determining the response to HBV vaccination, including physical factors, such as age, gender, obesity, immunosuppression, and smoking, as well as variation in genes of the immune system (summary by {2:Davila et al., 2010}).	http://identifiers.org/omim/142395
RO:0002352	input of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002352	inverse of has input	
MONDO:0044235	obsolete hsr	biolink:Disease	mondo	OMIM:139900		handedness|HSR|hand skill, relative; HSR	http://purl.obolibrary.org/obo/MONDO_0044235		http://identifiers.org/omim/139900
RO:0002353	output of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002353	inverse of has output	
GO:0005355	glucose transmembrane transporter activity	biolink:OntologyClass	mondo			galactose/glucose (methylgalactoside) porter activity|glucose permease activity|lactose/glucose efflux transporter activity	http://purl.obolibrary.org/obo/GO_0005355	Enables the transfer of the hexose monosaccharide glucose from one side of a membrane to the other.	
MONDO:0044238	obsolete lunulae of fingernails	biolink:Disease	mondo	OMIM:152600		lunulae of fingernails	http://purl.obolibrary.org/obo/MONDO_0044238		http://identifiers.org/omim/152600
RO:0002354	formed as result of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002354		
MONDO:0044237	obsolete hypercholesterolemia suppressor	biolink:Disease	mondo	OMIM:144020		hypercholesterolemia suppressor	http://purl.obolibrary.org/obo/MONDO_0044237		http://identifiers.org/omim/144020
HGNC:29144	EHBP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29144		
MONDO:0044232	obsolete fingers, relative length of	biolink:Disease	mondo	OMIM:136100		2D:4D finger-length ratio|fingers, relative length OF	http://purl.obolibrary.org/obo/MONDO_0044232		http://identifiers.org/omim/136100
MONDO:0044231	obsolete eyebrow, whorl 1n	biolink:Disease	mondo	OMIM:133800		eyebrow, whorl in	http://purl.obolibrary.org/obo/MONDO_0044231		http://identifiers.org/omim/133800
RO:0002350	member of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002350	is member of is a mereological relation between a item and a collection.	
MONDO:0044234	obsolete hrm2	biolink:Disease	mondo	OMIM:139450		HRM2|curly hair|hair morphology 2; HRM2|hair curvature, variation 1N	http://purl.obolibrary.org/obo/MONDO_0044234		http://identifiers.org/omim/139450
MONDO:0044233	obsolete hair whorl	biolink:Disease	mondo	OMIM:139400		Cowlick|hair whorl|Double hair whorl	http://purl.obolibrary.org/obo/MONDO_0044233		http://identifiers.org/omim/139400
RO:0002351	has member	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002351	has member is a mereological relation between a collection and an item.	
MONDO:0044229	obsolete epiblepharon of lower 51d	biolink:Disease	mondo	OMIM:131450		epiblepharon of lower lid	http://purl.obolibrary.org/obo/MONDO_0044229		http://identifiers.org/omim/131450
MONDO:0044228	obsolete eegbqtl	biolink:Disease	mondo	OMIM:130190		ELECTROENCEPHALOGRAPHIC pattern, BETA frequency, quantitative trait locus; EEGBQTL|EEGBQTL	http://purl.obolibrary.org/obo/MONDO_0044228	Since the initial discovery of the human electroencephalogram (EEG) by {1:Berger (1929)}, it has been speculated that neural oscillations play a broad role in nervous systems and form the basis for higher cognitive functions and consciousness. The presence of a beta/gamma oscillation (18 to 50 Hz) is thought to represent an activated state of the underlying neuronal network. These beta (12-29 Hz) and gamma (30-50 Hz) brain rhythms involve gamma-aminobutyric acid type A (GABA-A) receptor action ({2:Haenschel et al., 2000}; summary by {3:Porjesz et al., 2002}).	http://identifiers.org/omim/130190
HGNC:17168	RAB3GAP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17168		
MONDO:0020294	atrial defect and interatrial communication	biolink:Disease	mondo	ICD10:Q21.1|Orphanet:98727	ordo_group_of_disorders	atrial defect and interauricular communication|rare atrial defect and interatrial communication	http://purl.obolibrary.org/obo/MONDO_0020294		ORPHA:98727
MONDO:0020293	ascending aorta anomaly	biolink:Disease	mondo	Orphanet:98725|ICD10:Q25.4	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020293		ORPHA:98725|UMLS:C0345043
MONDO:0020292	congenital anomaly of the great arteries	biolink:Disease	mondo	Orphanet:98724|MedDRA:10061080	ordo_group_of_disorders	congenital aorta, aortic arch or pulmonary arteries anomaly	http://purl.obolibrary.org/obo/MONDO_0020292		ORPHA:98724|MEDDRA:10061080|UMLS:C0948632
MONDO:0044241	obsolete mydriatic response to pharmacologic agents	biolink:Disease	mondo	OMIM:159410		mydriatic response to pharmacologic agents	http://purl.obolibrary.org/obo/MONDO_0044241		http://identifiers.org/omim/159410
HGNC:17175	PLCE1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17175		
MONDO:0020291	hypoplastic right heart syndrome	biolink:Disease	mondo	SCTID:268180007|UMLS:C0344963|Orphanet:98723|NCIT:C99053|COHD:4145158|ICD9:746.89|MedDRA:10064962|ICD10:Q22.6|MedDRA:10050053|DOID:0070315|GARD:0002922	ordo_group_of_disorders|gard_rare	right hypoplastic heart syndrome	http://purl.obolibrary.org/obo/MONDO_0020291	Hypoplastic right-heart syndrome (HRHS) is a rare, cyanotic congenital heart malformation caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type. Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia.	UMLS:C0344963|ORPHA:98723|MEDDRA:10050053|NCIT:C99053|MEDDRA:10064962|UMLS:C0265856|DOID:0070315|SNOMEDCT:268180007
MONDO:0044240	obsolete musical perfect pitch	biolink:Disease	mondo	OMIM:159300		musical perfect pitch|absolute pitch	http://purl.obolibrary.org/obo/MONDO_0044240	Perfect pitch, or absolute pitch (AP), is defined as the ability immediately and effortlessly to name a note or collection of notes when they are sounded. Often, persons with perfect pitch possess a memory capacity whereby they can remember the pitch of a note and the configuration of a group or series of notes after a significant interval of time has elapsed. These recognitive and memory talents involve a potential capacity for performing these functions together with a practice factor which is necessary for the maintenance of the skills at the highest level (summary by {12:Profita and Bidder, 1988}). Absolute pitch likely results from a combination of environmental and genetic factors ({16:Theusch et al., 2009}).	http://identifiers.org/omim/159300
MONDO:0020290	atrioventricular septal defect	biolink:Disease	mondo	ICD9:745.69|ICD9:745.60|DOID:0050651|OMIMPS:606215|SCTID:15459006|NCIT:C101029|ICD10:Q21.2|GARD:0000802|ICD9:745.6|Orphanet:98722	gard_rare|ordo_group_of_disorders	AVSD|endocardial cushion defect|common atrioventricular canal|atrioventricular canal defect|AV septal defect|common AV canal|atrioventricular septal defect|AVCD|ECD	http://purl.obolibrary.org/obo/MONDO_0020290	A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves.	ORPHA:98722|DOID:0050651|NCIT:C101029|SNOMEDCT:15459006
MONDO:0044247	obsolete palmomental reflex	biolink:Disease	mondo	OMIM:167700		PALMOMENTAL reflex	http://purl.obolibrary.org/obo/MONDO_0044247		http://identifiers.org/omim/167700
MONDO:0044246	obsolete nystagmus, voluntary	biolink:Disease	mondo	OMIM:164170		NYSTAGMUS, voluntary	http://purl.obolibrary.org/obo/MONDO_0044246	Voluntary nystagmus is a rapid to-and-fro synchronous movement of the eyes that is initiated and maintained by conscious effort. Voluntary nystagmus has a frequency of 10-25 Hz, with an amplitude of up to 6 degrees, and can be maintained for up to 35 seconds. It usually has its first appearance between ages 8 to 15 years. It can be produced in both light and darkness, without fixation, at all eye positions, and even with closed eyes. It is accompanied by oscillopsia with visual blurring (summary by {1:Aschoff et al., 1976}).	http://identifiers.org/omim/164170
MONDO:0044249	obsolete alkaline phosphatase, plasma level of, quantitative trait locus 1	biolink:Disease	mondo	OMIM:171720		Alpqtl1|alkaline phosphatase, elevated serum|alkaline phosphatase, plasma level OF, quantitative trait locus 1|hyperphosphatasemia, benign familial	http://purl.obolibrary.org/obo/MONDO_0044249		http://identifiers.org/omim/171720
MONDO:0020299	obsolete spinocerebellar ataxia type 15/16	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0020299		
MONDO:0044248	obsolete thiourea tasting	biolink:Disease	mondo	OMIM:171200		prop tasting|Propylthiouracil tasting|Phenylthiocarbamide tasting|ptc tasting|THIOT|thiourea tasting; THIOT	http://purl.obolibrary.org/obo/MONDO_0044248	The sense of bitter taste is mediated by a group of bitter taste receptor proteins that reside on the surface of taste cells within the taste buds of the tongue. These proteins are 7-transmembrane domain, G protein-coupled receptors that are encoded by the TAS2R gene family (see TAS2R10; OMIM:604791), which contains at least 25 functional genes ({22:Kim et al., 2005}).nnHumans worldwide display a bimodality in sensitivity to the bitter taste of PTC, with approximately 75% of individuals perceiving it as intensely bitter, whereas the rest perceive it as tasteless. This difference has been the basis of study of taste perception in humans for over 70 years. {21:Kim and Drayna (2004)} provided an historical review of the subject.nnPropylthiouracil (PROP) and PTC are members of a class of compounds known as thioureas. The compounds carry the chemical group N-C=S, which is responsible for their characteristic bitter taste ({3:Bartoshuk et al., 1994}; {10:Drewnowski and Rock, 1995}).	http://identifiers.org/omim/171200
MONDO:0020298	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	biolink:Disease	mondo	UMLS:CN207093|Orphanet:98754|ICD10:Q87.1	ordo_etiological_subtype	Prader-Willi syndrome due to maternal uniparental disomy of chromosome type 15|UPD(15)mat	http://purl.obolibrary.org/obo/MONDO_0020298		ORPHA:98754|UMLS:CN207093
MONDO:0044243	obsolete nail high-sulfur protein	biolink:Disease	mondo	OMIM:161070		nail high-sulfur PROTEIN	http://purl.obolibrary.org/obo/MONDO_0044243		http://identifiers.org/omim/161070
MONDO:0020297	Noonan syndrome and Noonan-related syndrome	biolink:Disease	mondo	Orphanet:98733|MESH:C537846|UMLS:CN166718	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020297		UMLS:CN166718|ORPHA:98733|MESH:C537846
MONDO:0044242	obsolete mydriasis, congenital	biolink:Disease	mondo	OMIM:159420		mydriasis, congenital	http://purl.obolibrary.org/obo/MONDO_0044242		http://identifiers.org/omim/159420
MONDO:0020296	congenital arteriovenous fistula	biolink:Disease	mondo	MedDRA:10003226|NCIT:C35377|MESH:D001164|Orphanet:98731|SCTID:234148007	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020296	An abnormal, epithelial-lined connection between an artery and vein that is present at the time of birth.	NCIT:C35377|MESH:D001164|ORPHA:98731|MEDDRA:10003226|SNOMEDCT:234148007|UMLS:C0003855
MONDO:0044245	obsolete nailbeds, pigmentation of	biolink:Disease	mondo	OMIM:161100		NAILBEDS, pigmentation OF	http://purl.obolibrary.org/obo/MONDO_0044245		http://identifiers.org/omim/161100
MONDO:0020295	congenital pulmonary veins anomaly	biolink:Disease	mondo	SCTID:111322000|NCIT:C110942|Orphanet:98729	ordo_group_of_disorders	congenital anomaly of pulmonary veins|pulmonary vein abnormality	http://purl.obolibrary.org/obo/MONDO_0020295	Aberrant drainage of one or more of the pulmonary veins which causes the return of oxygen-rich blood to the right atrium.	NCIT:C110942|ORPHA:98729|SNOMEDCT:111322000
MONDO:0044244	obsolete nail low-sulfur protein	biolink:Disease	mondo	OMIM:161080		nail LOW-sulfur PROTEIN	http://purl.obolibrary.org/obo/MONDO_0044244		http://identifiers.org/omim/161080
RO:0002334	regulated by	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002334	inverse of regulates	
RO:0002335	negatively regulated by	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002335	inverse of negatively regulates	
MONDO:0044239	obsolete median-ulnar nerve communications	biolink:Disease	mondo	OMIM:155150		Martin-Gruber Median-ulnar anastomosis|median-ulnar nerve communications	http://purl.obolibrary.org/obo/MONDO_0044239		http://identifiers.org/omim/155150
RO:0002336	positively regulated by	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002336	inverse of positively regulates	
HP:0100765	Abnormality of the tonsils	biolink:PhenotypicFeature	mondo	UMLS:C4021975			http://purl.obolibrary.org/obo/HP_0100765	An abnormality of the tonsils.	
HP:0100763	Abnormality of the lymphatic system	biolink:PhenotypicFeature	mondo	UMLS:C4021976|SNOMEDCT_US:234087005|SNOMEDCT_US:111590001|UMLS:C0024228|MSH:D008206|SNOMEDCT_US:3305006|SNOMEDCT_US:362971004		Lymphatic disease	http://purl.obolibrary.org/obo/HP_0100763	An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively.	
HGNC:17142	OPTN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17142		
MONDO:0022862	cormier rustin munnich syndrome	biolink:Disease	mondo	GARD:0001523	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022862		
MONDO:0007229	Brachymetatarsus 4	biolink:Disease	mondo	OMIM:113475		Brachymetatarsus type 4|toe, fourth, short|metatarsus IV, short|BRACHYMETATARSUS IV	http://purl.obolibrary.org/obo/MONDO_0007229		http://identifiers.org/omim/113475
MONDO:0022863	corneal crystals myopathy neuropathy	biolink:Disease	mondo	GARD:0001526	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022863		
MONDO:0007227	Sillence syndrome	biolink:Disease	mondo	Orphanet:3168|MESH:C537338|OMIM:113450|UMLS:C1862092|GARD:0004869|ICD10:Q74.8|SCTID:732956000	ordo_malformation_syndrome	brachydactyly-symphalangism syndrome|brachydactyly-distal symphalangism syndrome	http://purl.obolibrary.org/obo/MONDO_0007227	Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic.	ORPHA:3168|UMLS:C1862092|http://identifiers.org/omim/113450|MESH:C537338|SNOMEDCT:732956000
MONDO:0034846	primary desmosis coli	biolink:Disease	mondo	Orphanet:565641|ICD10:K59.9	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0034846	A rare intestinal disease characterized by congenital partial or complete lack of the collagen mesh network in the intestinal wall, resulting in hypoperistalsis or aperistalsis. The enteric nervous system is normal or near-normal in the affected areas, although hypo- and dysganglionosis may be found in some proximal segments of the colon and/or small bowel. Patients present with chronic intractable slow transit constipation.	ORPHA:565641
MONDO:0009889	autosomal recessive polycystic kidney disease	biolink:Disease	mondo	ICD10:Q61.1|DOID:0110861|Orphanet:731|ICD9:753.14|UMLS:C0085548|MedDRA:10036047|SCTID:28770003|NCIT:C84579|GARD:0008378	ordo_disease	polycystic kidney disease, autosomal recessive; ARPKD|ARPKD|autosomal recessive polycystic kidney|PKHD1|AR-PKD|polycystic kidney disease, infantile type|polycystic kidney disease, autosomal recessive|polycystic kidney disease, infantile, type I|polycystic kidney disease, autosomal recessive|polycystic kidney and hepatic disease 1	http://purl.obolibrary.org/obo/MONDO_0009889	Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.	NCIT:C84579|http://identifiers.org/omim/263200|MEDDRA:10036047|UMLS:C0085548|SNOMEDCT:28770003|ORPHA:731|DOID:0110861|MESH:D017044
MONDO:0007228	brachymesomelia-renal syndrome	biolink:Disease	mondo	OMIM:113470|GARD:0000988|MESH:C537096|UMLS:C1862084		brachymesomelia renal syndrome|brachymesomelia-renal syndrome|severe upper limb brachymesomelia, glomerulocystic renal dysplasia, cranial and facial abnormalities, corneal opacities	http://purl.obolibrary.org/obo/MONDO_0007228		UMLS:C1862084|MESH:C537096|http://identifiers.org/omim/113470
MONDO:0022865	corneal dystrophy ichthyosis microcephaly mental retardation	biolink:Disease	mondo	GARD:0001528	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022865		
MONDO:0010877	Charcot-Marie-Tooth disease type 5	biolink:Disease	mondo	DOID:0080067|UMLS:CN074211|OMIM:600361|SCTID:76043009|Orphanet:64751|ICD10:G60.0|GARD:0009208	ordo_disease	hereditary motor and sensory neuropathy 5|CMT with pyramidal features|hereditary motor and sensory neuropathy type 5|Charcot-Marie-Tooth neuropathy with pyramidal features, autosomal dominant|HMSN 5|hereditary motor and sensory neuropathy with pyramidal features|peroneal muscular atrophy with pyramidal features, autosomal dominant|HMSN5|hereditary motor and sensory neuropathy V|Charcot-Marie-Tooth disease-pyramidal features syndrome|Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0010877	Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity.	UMLS:CN074211|http://identifiers.org/omim/600361|DOID:0080067|SNOMEDCT:76043009|ORPHA:64751
MONDO:0009888	polycystic kidney, cataract, and congenital blindness	biolink:Disease	mondo	UMLS:C1849771|OMIM:263100|MESH:C564882		polycystic kidney, cataract, and congenital blindness	http://purl.obolibrary.org/obo/MONDO_0009888		http://identifiers.org/omim/263100|MESH:C564882|UMLS:C1849771
MONDO:0020203	pigmented conjunctival lesion	biolink:Disease	mondo	Orphanet:98615	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020203		ORPHA:98615
MONDO:0007225	fibular aplasia-ectrodactyly syndrome	biolink:Disease	mondo	GARD:0002331|OMIM:113310|UMLS:C1862100|ICD10:Q73.8|MESH:C537930|Orphanet:1118	ordo_malformation_syndrome	fibular aplasia ectrodactyly|brachydactyly-ectrodactyly with fibular aplasia or hypoplasia	http://purl.obolibrary.org/obo/MONDO_0007225	Fibular aplasia-ectrodactyly syndrome is characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females.	UMLS:C1862100|http://identifiers.org/omim/113310|ORPHA:1118|MESH:C537930
MONDO:0007226	brachydactyly-nystagmus-cerebellar ataxia syndrome	biolink:Disease	mondo	ICD9:759.89|GARD:0000971|OMIM:113400|Orphanet:1246|MESH:C566192|SCTID:205828009|GARD:0000881|ICD10:Q87.8	ordo_malformation_syndrome|gard_rare	Biemond syndrome type 1|brachydactyly - nystagmus - cerebellar ataxia|brachydactyly, nystagmus and cerebellar ataxia|Biemond syndrome|brachydactyly-NYSTAGMUS-cerebellar ataxia	http://purl.obolibrary.org/obo/MONDO_0007226	Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients.	http://identifiers.org/omim/113400|SNOMEDCT:205828009|ORPHA:1246|MESH:C566192
MONDO:0020202	obsolete conjunctival lymphangiectasia	biolink:Disease	mondo	Orphanet:98614|UMLS:C0339186|ICD9:372.89|SCTID:231871007			http://purl.obolibrary.org/obo/MONDO_0020202		UMLS:C0339186|ORPHA:98614|SNOMEDCT:231871007
MONDO:0010876	recessive aplasia cutis congenita of limbs	biolink:Disease	mondo	GARD:0000754|MESH:C536840|Orphanet:1115|OMIM:600360|UMLS:C1838206|SCTID:723500009|ICD10:Q84.8	ordo_disease|gard_rare	recessive aplasia cutis congenita of the limbs|congenital absence of skin on the upper or lower limbs|aplasia cutis congenita of limbs, autosomal recessive|aplasia cutis congenita of limbs recessive	http://purl.obolibrary.org/obo/MONDO_0010876	Recessive aplasia cutis congenita of limbs is an extremely rare variant of aplasia cutis congenita (ACC) characterized by the congenital absence of skin on the upper and/or lower limbs, with these lesions usually healing spontaneously resulting in a hypotrichotic scar. Recessive ACC of limbs may be associated with junctional epidermolysis bullosa. The inheritance was hypothesized to be autosomal recessive. There have been no further descriptions in the literature since 1980.	ORPHA:1115|UMLS:C1838206|MESH:C536840|SNOMEDCT:723500009|http://identifiers.org/omim/600360
RO:0002331	involved_in	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002331	c involved_in p if and only if c enables some process p', and p' is part of p	
MONDO:0009887	desquamative interstitial pneumonia	biolink:Disease	mondo	SCTID:8549006|OMIM:263000|NCIT:C35288|UMLS:C0238378|ICD10:J84.1|COHD:4045227|ICD9:516.37|MESH:C562470|DOID:0050158|ICD9:516.34|Orphanet:98852|ICD10:J84.117|ICD10:J84.115	ordo_disease	familial desquamative interstitial pneumonitis|interstitial pneumonitis, desquamative, familial|pneumonia, desquamative interstitial, familial|DIP|interstitial pneumonitis, desquamative, familial; DIP|respiratory bronchiolitis-associated interstitial lung disease|RBILD|respiratory bronchiolitis interstitial lung disease|interstitial lung disease, desquamative|ILD, desquamative|desquamative interstitial pneumonia|pneumonitis, desquamative interstitial, familial	http://purl.obolibrary.org/obo/MONDO_0009887	A rare idiopathic interstitial pneumonia characterized by accumulation of macrophages in alveolar spaces and interstitial inflammation. It usually occurs in smokers. Some patients develop progressive interstitial lung fibrosis.	http://identifiers.org/omim/263000|SNOMEDCT:8549006|UMLS:C0238378|NCIT:C35288|DOID:0050158|ORPHA:98852|MESH:C562470
MONDO:0020201	obsolete conjunctival telangiectasia (disease)	biolink:Disease	mondo	Orphanet:98613|HP:0000524|UMLS:C0239105|MedDRA:10072143		conjunctival telangiectasia	http://purl.obolibrary.org/obo/MONDO_0020201		ORPHA:98613|MEDDRA:10072143|UMLS:C0239105
MONDO:0009886	pleoconial myopathy with salt craving	biolink:Disease	mondo	GARD:0010318|UMLS:C1849773|MESH:C564883|OMIM:262900	gard_rare	pleoconial myopathy with salt craving	http://purl.obolibrary.org/obo/MONDO_0009886		http://identifiers.org/omim/262900|MESH:C564883|UMLS:C1849773
MONDO:0010879	CODAS syndrome	biolink:Disease	mondo	DOID:0111274|MESH:C536434|Orphanet:1458|OMIM:600373|UMLS:C1838180|SCTID:717772000|ICD10:Q87.8|GARD:0001418|NCIT:C126744	gard_rare|ordo_malformation_syndrome	cerebrooculodentoauriculoskeletal syndrome|cerebral, ocular, dental, auricular, and skeletal anomalies syndrome|cerebro-oculo-dento-auriculo-skeletal syndrome|CODAS syndrome|cerebral, ocular, dental, auricular, and skeletal syndrome	http://purl.obolibrary.org/obo/MONDO_0010879	Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.	http://identifiers.org/omim/600373|ORPHA:1458|UMLS:C1838180|DOID:0111274|MESH:C536434|SNOMEDCT:717772000|NCIT:C126744
MONDO:0007223	brachydactyly type E1	biolink:Disease	mondo	MESH:C566194|OMIM:113300|DOID:0110972		brachydactyly, type E1|brachydactyly type E caused by mutation in HOXD13|BDE1|HOXD13 brachydactyly type E|brachydactyly, type E1; BDE1|brachydactyly, type E	http://purl.obolibrary.org/obo/MONDO_0007223	Any brachydactyly type E in which the cause of the disease is a mutation in the HOXD13 gene.	http://identifiers.org/omim/113300|MESH:C566194|DOID:0110972
MONDO:0010878	hereditary spastic paraplegia 6	biolink:Disease	mondo	UMLS:C4518537|GARD:0004928|OMIM:600363|DOID:0110811|SCTID:732949006|UMLS:C1838192|ICD10:G11.4|MESH:C536866|Orphanet:100988	ordo_disease	spastic paraplegia 6, autosomal dominant; SPG6|NIPA1 hereditary spastic paraplegia|SPG6|FSP3|familial spastic paraplegia autosomal dominant 3|spastic paraplegia 6|hereditary spastic paraplegia caused by mutation in NIPA1|familial spastic paraplegia, autosomal dominant, 3|autosomal dominant spastic paraplegia type 6|spastic paraplegia 6, autosomal dominant|autosomal dominant spastic paraplegia 6|hereditary spastic paraplegia type 6|autosomal dominant familial spastic paraplegia type 3	http://purl.obolibrary.org/obo/MONDO_0010878	Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.	ORPHA:100988|http://identifiers.org/omim/600363|UMLS:C1838192|MESH:C536866|DOID:0110811|SNOMEDCT:732949006|UMLS:C4518537
MONDO:0020200	obsolete conjunctival hemangioma or hemolymphangioma	biolink:Disease	mondo	Orphanet:98612			http://purl.obolibrary.org/obo/MONDO_0020200		ORPHA:98612
MONDO:0009885	Scott syndrome	biolink:Disease	mondo	ICD10:D69.8|UMLS:C0796149|DOID:0111052|SCTID:128098009|GARD:0004777|MESH:C563120|OMIM:262890|Orphanet:806	gard_rare|ordo_disease	Platelet factor X receptor deficiency|familial prothrombin consumption inhibitor|Scott syndrome|prothrombin consumption inhibitor, familial|BDPLT7|bleeding disorder, Platelet-type, 7|prothrombin consumption deficiency|bleeding abnormality due to deficiency of platelet biding of factor X|SCTS|familial prothrombin conversion defect|Scott syndrome; SCTS|platelet-type bleeding disorder 7|prothrombin conversion defect, familial|bleeding Abnormality due to deficiency of Platelet binding of Factor 10	http://purl.obolibrary.org/obo/MONDO_0009885	Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity.	UMLS:C0796149|http://identifiers.org/omim/262890|DOID:0111052|SNOMEDCT:128098009|ORPHA:806|MESH:C563120
MONDO:0007224	brachydactyly, type E, with atrial septal defect, type 2	biolink:Disease	mondo	MESH:C566193|UMLS:C1862101|OMIM:113301		brachydactyly, type E, with atrial septal defect, type II	http://purl.obolibrary.org/obo/MONDO_0007224		UMLS:C1862101|http://identifiers.org/omim/113301|MESH:C566193
RO:0002333	enabled by	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002333	inverse of enables	
MONDO:0007221	brachydactyly type C	biolink:Disease	mondo	DOID:0110970|ICD10:Q73.8|MESH:C537093|GARD:0000986|OMIM:113100|Orphanet:93384|UMLS:C1862103	ordo_malformation_syndrome	brachydactyly, type C|brachydactyly, Haws type|brachydactyly Haws type|BDC|brachydactyly, type C; BDC|BDC	http://purl.obolibrary.org/obo/MONDO_0007221		ORPHA:93384|UMLS:C1862103|http://identifiers.org/omim/113100|MESH:C537093|UMLS:C1300268|DOID:0110970
MONDO:0009884	platelet prostacyclin receptor defect	biolink:Disease	mondo	UMLS:C1849774|MESH:C564884|OMIM:262875		platelet prostacyclin receptor defect|Vienna-Hietzing defect	http://purl.obolibrary.org/obo/MONDO_0009884		http://identifiers.org/omim/262875|MESH:C564884|UMLS:C1849774
MONDO:0009883	alpha-2-plasmin inhibitor deficiency	biolink:Disease	mondo	SCTID:716746003|DOID:0060601|OMIM:262850|GARD:0000731|Orphanet:79|MESH:C537777|ICD10:D68.8|UMLS:C2752081	ordo_disease	antiplasmin deficiency|antiplasmin deficiency, congenital|plasmin inhibitor deficiency|anti-plasmin deficiency, congenital|congenital alpha2-antiplasmin deficiency|plasmin inhibitor deficiency|antiplasmin defiency|alpha-2-plasmin inhibitor deficiency	http://purl.obolibrary.org/obo/MONDO_0009883	Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner.	SNOMEDCT:716746003|http://identifiers.org/omim/262850|MESH:C537777|UMLS:C2752081|DOID:0060601|ORPHA:79
MONDO:0007222	brachydactyly type D	biolink:Disease	mondo	MESH:C562420|OMIM:113200|DOID:0110971		brachydactyly, type D|BDD|brachydactyly, type D; BDD|stub thumb	http://purl.obolibrary.org/obo/MONDO_0007222	A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has material basis in mutation in the HOXD13 gene on chromosome 2q31.1.	http://identifiers.org/omim/113200|DOID:0110971|MESH:C562420
MONDO:0009882	plasma clot retraction factor, deficiency of	biolink:Disease	mondo	MESH:C564885|OMIM:262800|UMLS:C1849778		plasma clot retraction factor, deficiency of	http://purl.obolibrary.org/obo/MONDO_0009882		http://identifiers.org/omim/262800|MESH:C564885|UMLS:C1849778
MONDO:0007220	brachydactyly type B1	biolink:Disease	mondo	OMIM:113000|DOID:0110969|Orphanet:572385|MESH:C566196		ROR2 brachydactyly type B|brachydactyly type B caused by mutation in ROR2|brachydactyly, type B1|brachydactyly, type B|brachydactyly, type B1; BDB1|BDB1	http://purl.obolibrary.org/obo/MONDO_0007220	Any brachydactyly type B in which the cause of the disease is a mutation in the ROR2 gene.	http://identifiers.org/omim/113000|MESH:C566196|ORPHA:572385|DOID:0110969
MONDO:0009881	pituitary dwarfism with large sella turcica	biolink:Disease	mondo	UMLS:C0271575|SCTID:27270004|MESH:C562705|GARD:0010607|ICD9:253.8|OMIM:262710	gard_rare	pituitary dwarfism with large sella turcica	http://purl.obolibrary.org/obo/MONDO_0009881		UMLS:C0271575|http://identifiers.org/omim/262710|SNOMEDCT:27270004|MESH:C562705
MONDO:0010880	telangiectasia, hereditary hemorrhagic, type 2	biolink:Disease	mondo	OMIM:600376|GARD:0009901	gard_rare	telangiectasia hereditary hemorrhagic type 2|telangiectasia, hereditary hemorrhagic, type 2; HHT2|Osler Weber Rendu syndrome type 2|hereditary hemorrhagic telangiectasia caused by mutation in ACVRL1|ORW2|telangiectasia, hereditary hemorrhagic, type 2|HHT2|ACVRL1 hereditary hemorrhagic telangiectasia|hereditary hemorrhagic telangiectasia type 2|pulmonary arterial hypertension, hereditary hemorrhagic telangiectasia-related	http://purl.obolibrary.org/obo/MONDO_0010880	Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the ACVRL1 gene.	http://identifiers.org/omim/600376
MONDO:0009880	short stature-pituitary and cerebellar defects-small sella turcica syndrome	biolink:Disease	mondo	UMLS:C2678408|GARD:0010604|OMIM:262700|Orphanet:85442|MESH:C567492	ordo_disease	short stature, pituitary and cerebellar defects, and small sella turcica|pituitary hormone deficiency, combined, type 4|pituitary hormone deficiency, combined, with or without cerebellar defects|pituitary hormone deficiency, combined 4|CPHD4|pituitary hormone deficiency, combined, 4; CPHD4|pituitary hormone deficiency, combined with or without cerebellar defects|pituitary hormone deficiency, combined, 4|short stature, pituitary and cerebellar defects and small sella turcica	http://purl.obolibrary.org/obo/MONDO_0009880	Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25).	MESH:C567492|http://identifiers.org/omim/262700|ORPHA:85442|UMLS:C2678408
HGNC:2395	CRYBA2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2395		
RO:0002327	enables	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002327		
RO:0002328	functionally related to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002328	A grouping relationship for any relationship directly involving a function, or that holds because of a function of one of the related entities.	
HGNC:2394	CRYBA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2394		
MONDO:0010882	aphalangy-syndactyly-microcephaly syndrome	biolink:Disease	mondo	Orphanet:1113|OMIM:600384|GARD:0000748|ICD10:Q87.2|MESH:C563942|UMLS:C1838161	ordo_malformation_syndrome|gard_rare	Aphalangia, partial, with syndactyly and Duplication of metatarsal type 4|Aphalangia partial with syndactyly and duplication of metatarsal IV|APHALANGIA, partial, with syndactyly and DUPLICATION of metatarsal IV|Aphalangia, partial, with syndactyly and Duplication of metatarsal 4	http://purl.obolibrary.org/obo/MONDO_0010882	Aphalangy-syndactyly-microcephaly is an extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.	UMLS:C1838161|MESH:C563942|http://identifiers.org/omim/600384|ORPHA:1113
RO:0002329	part of structure that is capable of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002329	this relation holds between c and p when c is part of some c', and c' is capable of p.	
MONDO:0010881	mesomelia-synostoses syndrome	biolink:Disease	mondo	UMLS:C1838162|MESH:C537348|ICD10:Q74.8|GARD:0004302|Orphanet:2496|SCTID:724147004|OMIM:600383	ordo_malformation_syndrome|gard_rare	mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type|mesomelia synostoses|mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type|dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis|mesomelic dysplasia, syndromic|Verloes-David syndrome|8q13 microdeletion syndrome|mesomelia-synostoses syndrome|chromosome 8Q13 deletion syndrome|Del(8)q(13)|monosomy 8q13	http://purl.obolibrary.org/obo/MONDO_0010881	Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies.	UMLS:C1838162|SNOMEDCT:724147004|http://identifiers.org/omim/600383|ORPHA:2496|MESH:C537348
MONDO:0019218	inborn disorder of bile acid synthesis	biolink:Disease	mondo	UMLS:CN231736|Orphanet:79168|UMLS:CN544763|GTR:AN0923838	ordo_group_of_disorders	disorder of bile acid synthesis|inborn errors of bile acid synthesis|inborn error of bile acid biosynthetic process|rare inborn error of bile acid biosynthetic process|inborn bile acid biosynthetic process disorder|rare inborn error of bile acid biosynthetic process	http://purl.obolibrary.org/obo/MONDO_0019218	Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis.	UMLS:CN231736|UMLS:CN544763|ORPHA:79168
RO:0002323	mereotopologically related to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002323	A mereological relationship or a topological relationship	
MONDO:0010884	muscular dystrophy, scapulohumeral	biolink:Disease	mondo	UMLS:C0410192|MESH:C562932|SCTID:240074006|OMIM:600416		muscular dystrophy, scapulohumeral	http://purl.obolibrary.org/obo/MONDO_0010884		SNOMEDCT:240074006|MESH:C562932|UMLS:C0410192|http://identifiers.org/omim/600416
MONDO:0010883	pectus excavatum-macrocephaly-dysplastic nails syndrome	biolink:Disease	mondo	SCTID:763863002|Orphanet:2835|GARD:0000374|UMLS:C2931302|OMIM:600399|MESH:C536728	ordo_malformation_syndrome	pectus excavatum, macrocephaly, short stature, and dysplastic nails|familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails|Zori-Stalker-Williams syndrome|Zori Stalker Williams syndrome|pectus excavatum, macrocephaly and dysplastic nails	http://purl.obolibrary.org/obo/MONDO_0010883	Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992.	SNOMEDCT:763863002|MESH:C536728|UMLS:C2931302|http://identifiers.org/omim/600399|ORPHA:2835
RO:0002324	developmentally related to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002324	A relationship that holds between entities participating in some developmental process (GO:0032502)	
MONDO:0019217	obsolete inborn disorder of urea cycle metabolism and ammonia detoxification	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019217		
MONDO:0010886	2q37 microdeletion syndrome	biolink:Disease	mondo	ICD9:758.39|DOID:0111704|UMLS:C2931817|GARD:0010202|NCIT:C129021|Orphanet:1001|ICD10:Q93.5|MESH:C538317|SCTID:702357000|OMIM:600430	ordo_malformation_syndrome	BDMR|Albright hereditary osteodystrophy type 3|brachydactyly-intellectual disability syndrome|Albright hereditary osteodystrophy-like syndrome|2q37 deletion syndrome|chromosome 2q37 deletion syndrome|brachydactyly-mental retardation syndrome|Del(2)(q37)|brachydactyly-intellectual disability syndrome|Albright hereditary osteodystrophy-like syndrome|brachydactyly mental retardation syndrome|deletion 2q37-qter|monosomy 2q37-qter|deletion 2q37|brachydactyly intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0010886	Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.	DOID:0111704|UMLS:C2931817|SNOMEDCT:702357000|MESH:C538317|ORPHA:1001|NCIT:C129021|http://identifiers.org/omim/600430
MONDO:0010885	angiokeratoma corporis diffusum with arteriovenous fistulas	biolink:Disease	mondo	OMIM:600419|MESH:C563940|UMLS:C1838141		angiokeratoma corporis diffusum with arteriovenous fistulas	http://purl.obolibrary.org/obo/MONDO_0010885		UMLS:C1838141|MESH:C563940|http://identifiers.org/omim/600419
MONDO:0019219	inborn disorder of neurotransmitter metabolism and transport	biolink:Disease	mondo	Orphanet:79169|UMLS:CN227586	ordo_group_of_disorders	disorder of neurotransmitter metabolism and transport	http://purl.obolibrary.org/obo/MONDO_0019219		UMLS:CN227586|ORPHA:79169
MONDO:0019214	inborn carbohydrate metabolic disorder	biolink:Disease	mondo	MedDRA:10061023|DOID:2978|NCIT:C97089|MESH:D002239|ICD9:271.8|Orphanet:79161|EFO:1000061	ordo_group_of_disorders	rare inborn error of carbohydrate metabolic process|inborn errors of carbohydrate metabolism|disorder of carbohydrate metabolism|rare inborn error of carbohydrate metabolic process|disorder of carbohydrate transport and metabolism|carbohydrate metabolism disorder|carbohydrate metabolic disorder|inborn carbohydrate metabolism disorder|inborn error of carbohydrate metabolic process|inborn carbohydrate metabolic process disorder	http://purl.obolibrary.org/obo/MONDO_0019214	An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolic process.	UMLS:C0149670|MESH:D002239|ORPHA:79161|MEDDRA:10061023|NCIT:C97089|DOID:2978
MONDO:0022855	congenital vagal hyperreflexivity	biolink:Disease	mondo	GARD:0001508	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022855		
MONDO:0019213	cerebral organic aciduria	biolink:Disease	mondo	Orphanet:79158	ordo_group_of_disorders	inherited organic acidemia of brain|brain inherited organic acidemia	http://purl.obolibrary.org/obo/MONDO_0019213	A inherited organic acidemia that involves the brain.	ORPHA:79158
MONDO:0022856		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0022856		
MONDO:0019216	inborn disorder of amino acid absorption and transport	biolink:Disease	mondo	Orphanet:79166|UMLS:C0268641|ICD10:E72.0|ICD9:270.0|SCTID:16784003	ordo_group_of_disorders	disorder of amino acid absorption and transport|disorder of amino acid transport	http://purl.obolibrary.org/obo/MONDO_0019216		UMLS:C0268641|ORPHA:79166|SNOMEDCT:16784003
MONDO:0022857	obsolete continuous muscle fiber activity hereditary	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0022857		
MONDO:0022858	continuous spike-wave during slow sleep syndrome	biolink:Disease	mondo	GARD:0001513	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022858		
MONDO:0019215	classic organic aciduria	biolink:Disease	mondo	Orphanet:79163	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019215		ORPHA:79163
MONDO:0022859	cor biloculare	biolink:Disease	mondo	ICD9:745.7|SCTID:81990004|GARD:0006193|NCIT:C124591|UMLS:C0152238	gard_rare	TWO-chambered heart|cor biloculare|Cor Biloculare|absence of atrial and ventricular septa	http://purl.obolibrary.org/obo/MONDO_0022859	A congenital anatomic anomaly in which the heart has only two chambers.	SNOMEDCT:81990004|NCIT:C124591|UMLS:C0152238
MONDO:0019210	cutaneous neuroendocrine carcinoma	biolink:Disease	mondo	ONCOTREE:MCC|SCTID:253001006|UMLS:C0007129|COHD:4100425|Orphanet:79140|MESH:D015266|ICD10:C44.7|ICD10:C44.6|EFO:1001471|ICD9:209.36|GARD:0009266|NCIT:C9231|ICD10:C44.3|ICDO:8247/3	ordo_disease	MCC|cutaneous APUDoma|carcinoma of Merkel cell|trabecular cancer|cutaneous neuroendocrine carcinoma|Merkle tumors|Merkel cell carcinoma|neuroendocrine skin carcinoma|Merkel cell tumor|trabecular skin carcinoma|neuroendocrine carcinoma of skin|carcinoma, Merkel cell|Merkel cell cancer|neuroendocrine carcinoma of the skin	http://purl.obolibrary.org/obo/MONDO_0019210	Cutaneous neuroendocrine carcinoma is a primary cutaneous cancer arising from a subset of skin neuroendocrine cells (Merkel cells, giving the name Merkel cell carcinoma (MCC)).	MESH:D015266|NCIT:C9231|UMLS:C0007129|ORPHA:79140|SNOMEDCT:253001006
HGNC:2398	CRYBB2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2398		
MONDO:0019212	disseminated superficial actinic porokeratosis	biolink:Disease	mondo	ICD9:692.75|ICD10:Q82.8|Orphanet:79152|SCTID:41495000|GARD:0010983	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019212	Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities.	SNOMEDCT:41495000|UMLS:C0265970|ORPHA:79152
HGNC:17146	ARL2BP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17146		
HGNC:2397	CRYBB1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2397		
MONDO:0019211	isolated congenital anonychia	biolink:Disease	mondo	GARD:0012930|Orphanet:79143|ICD10:Q84.3	ordo_disease	congenital anonychia|autosomal recessive nonsyndromic congenital nail disorder-4|isolated anonychia|nonsyndromic congenital nail disorder, 4	http://purl.obolibrary.org/obo/MONDO_0019211	Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern.	ORPHA:79143
HGNC:2396	CRYBA4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2396		
HGNC:17151	ORC6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17151		
HP:0100774	Hyperostosis	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:203514008|MSH:D015576|UMLS:C0020492|SNOMEDCT_US:13814009		Bone overgrowth|Bone Hypertrophy	http://purl.obolibrary.org/obo/HP_0100774	Excessive growth or abnormal thickening of bone tissue.	
MONDO:0022850	obsolete congenital sucrose isomaltose malabsorption	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0022850		
MONDO:0022851	Dennis-Fairhurst-Moore syndrome	biolink:Disease	mondo	MESH:C538210|Orphanet:2109|GARD:0000290	n_of_one|gard_rare	Dennis Fairhurst Moore syndrome|Hallermam Streiff like syndrome	http://purl.obolibrary.org/obo/MONDO_0022851	A severe form of Hallermann-Streiff syndrome, observed in one family.	ORPHA:2109|MESH:C538210
MONDO:0007238	amastia	biolink:Disease	mondo	SCTID:75474006|GARD:0009489|OMIM:113700|NCIT:C118459|MESH:C535565|UMLS:CN033494	gard_rare	complete absence of breasts|absent breasts and nipples|breasts and/or nipples, aplasia or hypoplasia of, 1|breasts and/or nipples, aplasia or hypoplasia of, 1; BNAH1|athelia|amazia|BNAH1|amastia	http://purl.obolibrary.org/obo/MONDO_0007238	Absence of one or both mammary glands.	SNOMEDCT:75474006|NCIT:C118459|UMLS:CN033494|http://identifiers.org/omim/113700|MESH:C535565
MONDO:0007239	epidermolytic hyperkeratosis	biolink:Disease	mondo	MESH:D017488|SCTID:254167000|ICD10:Q80.3|DOID:4603|NCIT:C62569|OMIM:113800|Orphanet:312|GARD:0001039	ordo_disease	epidermolytic ichthyosis|BCIE|bullous congenital ichthyosiform erythroderma|epidermolytic hyperkeratosis|bullous congenital ichthyosiform erythroderma of Brock|epidermolytic palmoplantar hyperkeratosis|bullous erythroderma Ichthyosiformis congenita of Brocq|epidermolytic hyperkeratosis; EHK|epidermolytic hyperkeratosis, late-onset|congenital bullous ichthyosiform erythroderma|EI|bullous ichthyosis|bullous ichthyosiform erythroderma|autosomal dominant epidermolytic ichthyosis|EHK|bullous ichthyosiform erythroderma congenita|ichthyosis hystrix Brocq type	http://purl.obolibrary.org/obo/MONDO_0007239	Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.	MESH:D017488|SNOMEDCT:254167000|UMLS:C0079153|http://identifiers.org/omim/113800|ORPHA:312|DOID:4603|NCIT:C62569
MONDO:0022854	congenital unilateral pulmonary hypoplasia	biolink:Disease	mondo	GARD:0001507	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022854		
MONDO:0009899	polyhydramnios, chronic idiopathic	biolink:Disease	mondo	MESH:C564876|UMLS:C1849720|OMIM:263610		polyhydramnios, chronic idiopathic|Lactogen receptor defect of chorion	http://purl.obolibrary.org/obo/MONDO_0009899		http://identifiers.org/omim/263610|MESH:C564876|UMLS:C1849720
MONDO:0010866	infantile osteopetrosis with neuroaxonal dysplasia	biolink:Disease	mondo	UMLS:C1838258|Orphanet:85179|SCTID:724226009|ICD10:Q78.2|OMIM:600329|MESH:C536055|GARD:0010082	ordo_malformation_syndrome	osteopetrosis and infantile neuroaxonal dystrophy	http://purl.obolibrary.org/obo/MONDO_0010866	This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.	http://identifiers.org/omim/600329|ORPHA:85179|MESH:C536055|UMLS:C1838258|SNOMEDCT:724226009
MONDO:0007236	branchiootorenal syndrome 1	biolink:Disease	mondo	OMIM:113650|DOID:0111423		Melnick-Fraser syndrome|branchiootorenal syndrome 1; BOR1|branchiootorenal syndrome 1|BOR1|branchiootorenal dysplasia|branchiootorenal syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0007236		http://identifiers.org/omim/113650|DOID:0111423
MONDO:0009898	polysaccharide, storage of unusual	biolink:Disease	mondo	MESH:C564877|OMIM:263600		polysaccharide, storage of unusual	http://purl.obolibrary.org/obo/MONDO_0009898		http://identifiers.org/omim/263600|MESH:C564877
MONDO:0007237	familial juvenile hypertrophy of the breast	biolink:Disease	mondo	ICD10:N62|OMIM:113670|UMLS:CN226754|MESH:C536821|Orphanet:180176	ordo_morphological_anomaly	virginal mammary hypertrophy|juvenile gigantomastia|juvenile macromastia|hypertrophy of the breast, juvenile|virginal breast hypertrophy|gigantomastia, juvenile|hypertrophy of the breast, juvenile; JHB|familial juvenile gigantomastia|JHB	http://purl.obolibrary.org/obo/MONDO_0007237	Familial juvenile hypertrophy of the breast is a rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal.	http://identifiers.org/omim/113670|ORPHA:180176|UMLS:CN226754|MESH:C536821
MONDO:0010865	pseudoaminopterin syndrome	biolink:Disease	mondo	ICD10:Q82.0|UMLS:C0795939|MESH:C535823|Orphanet:221120|SCTID:715867000|GARD:0004544|OMIM:600325	gard_rare|ordo_malformation_syndrome	pseudoaminopterin syndrome|aminopterin syndrome sine aminopterin; ASSA|aminopterin syndrome sine aminopterin|aminopterin syndrome-like sine aminopterin|ASSA	http://purl.obolibrary.org/obo/MONDO_0010865	Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature.	http://identifiers.org/omim/600325|UMLS:C0795939|MESH:C535823|ORPHA:221120|SNOMEDCT:715867000
RO:0002320	evolutionarily related to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002320	A relationship that holds via some environmental process	
MONDO:0009897	adult polyglucosan body disease	biolink:Disease	mondo	OMIM:263570|SCTID:721099001|MESH:C564878|GARD:0000108|ICD10:E74.0|Orphanet:206583	ordo_clinical_subtype|gard_rare	polyglucosan body neuropathy, adult form|APBD|APBN|polyglucosan body disease, adult form|polyglucosan body neuropathy, adult form; APBN|polyglucosan body disease, adult	http://purl.obolibrary.org/obo/MONDO_0009897	Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia.	http://identifiers.org/omim/263570|SNOMEDCT:721099001|MESH:C564878|ORPHA:206583
MONDO:0007234	branchial myoclonus with spastic paraparesis and cerebellar ataxia	biolink:Disease	mondo	OMIM:113610|MESH:C566188|UMLS:C1862071		branchial myoclonus with spastic paraparesis and cerebellar ataxia	http://purl.obolibrary.org/obo/MONDO_0007234		UMLS:C1862071|http://identifiers.org/omim/113610|MESH:C566188
MONDO:0010868	rippling muscle disease 1	biolink:Disease	mondo	GARD:0009165|OMIM:600332|DOID:0070308		rippling muscle disease 1|RMD1|rippling muscle disease, 1|rippling muscle disease 1; RMD1	http://purl.obolibrary.org/obo/MONDO_0010868		http://identifiers.org/omim/600332|DOID:0070308
RO:0002321	ecologically related to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002321	A relationship that is mediated in some way by the environment or environmental feature (ENVO:00002297)	
MONDO:0007235	branchiooculofacial syndrome	biolink:Disease	mondo	ICD10:Q18.8|SCTID:449821007|OMIM:113620|Orphanet:1297|GARD:0003212|ICD9:759.89|DOID:0050691	gard_rare|ordo_malformation_syndrome	branchio-oculo-facial syndrome|branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging|BOFS syndrome|BOFS|branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Aging|branchiooculofacial syndrome; BOFS|Bof syndrome|branchiooculofacial syndrome|lip Pseudocleft-Hemangiomatous branchial cyst syndrome|hemangiomatous branchial clefts-Lip Pseudocleft syndrome	http://purl.obolibrary.org/obo/MONDO_0007235	Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.	UMLS:C0376524|http://identifiers.org/omim/113620|ORPHA:1297|DOID:0050691|SNOMEDCT:449821007
MONDO:0010867	PARC syndrome	biolink:Disease	mondo	ICD10:Q87.8|UMLS:C1838256|OMIM:600331|Orphanet:2825|GARD:0004223|MESH:C537174	gard_rare|ordo_malformation_syndrome	poikiloderma, alopecia, retrognathism, and cleft palate|PARC syndrome|poikiloderma-alopecia-retrognathism-cleft palate syndrome	http://purl.obolibrary.org/obo/MONDO_0010867	PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990.	http://identifiers.org/omim/600331|MESH:C537174|ORPHA:2825|UMLS:C1838256
MONDO:0009896	polymyoclonus, infantile	biolink:Disease	mondo	OMIM:263550|MESH:C535524|UMLS:C1849731		polymyoclonus, infantile	http://purl.obolibrary.org/obo/MONDO_0009896		http://identifiers.org/omim/263550|MESH:C535524|UMLS:C1849731
MONDO:0009895	postaxial polydactyly-dental and vertebral anomalies syndrome	biolink:Disease	mondo	UMLS:C1849732|Orphanet:2916|ICD10:Q87.2|MESH:C564880|OMIM:263540	ordo_malformation_syndrome	polydactyly, postaxial, with dental and vertebral anomalies	http://purl.obolibrary.org/obo/MONDO_0009895	Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977.	http://identifiers.org/omim/263540|ORPHA:2916|MESH:C564880|UMLS:C1849732
MONDO:0007232	autosomal dominant brachyolmia	biolink:Disease	mondo	GARD:0010429|ICD10:Q76.3|SCTID:717264003|Orphanet:93304|OMIM:113500	ordo_malformation_syndrome	brachyolmia type 3; BCYM3|brachyrachia|brachyolmia type 3|brachyolmia autosomal dominant|BCYM3|brachyolmia, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0007232	Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.	http://identifiers.org/omim/113500|ORPHA:93304|SNOMEDCT:717264003
MONDO:0007233	second branchial cleft anomaly	biolink:Disease	mondo	Orphanet:141022|ICD10:Q18.0|SCTID:73381000119100|OMIM:113600|NCIT:C104813	ordo_morphological_anomaly	second branchial cleft cyst|second branchial cleft fistula|branchial cleft remnant|branchial cleft|branchial cysts|branchial cleft anomalies	http://purl.obolibrary.org/obo/MONDO_0007233	A congenital defect in the neck that occurs during early embryonic development. It is caused by developmental abnormalities of the pharyngeal arches and results in the development of a cyst or a fissure in the side of the neck.	ORPHA:141022|http://identifiers.org/omim/113600|NCIT:C104813|SNOMEDCT:73381000119100
MONDO:0009894	short-rib thoracic dysplasia 6 with or without polydactyly	biolink:Disease	mondo	ICD10:Q77.2|DOID:0110092|OMIM:263520|NCIT:C122654		SRTD6|short-rib thoracic dysplasia 6 with or without polydactyly|Srps, type 2|polydactyly with neonatal chondrodystrophy type II|SRPS2A|short-rib thoracic dysplasia 6 with or without polydactyly; SRTD6|short rib-polydactyly syndrome type IIA|short rib-polydactyly syndrome, type 2|Majewski syndrome|polydactyly with neonatal chondrodystrophy, type 2|polydactyly with neonatal chondrodystrophy, type II|short rib-polydactyly syndrome, type 2A|short rib-polydactyly syndrome type II	http://purl.obolibrary.org/obo/MONDO_0009894	A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia.	http://identifiers.org/omim/263520|NCIT:C122654|DOID:0110092
MONDO:0010869	motor neuron disease with dementia and ophthalmoplegia	biolink:Disease	mondo	MESH:C563954|OMIM:600333|UMLS:C1838253		motor neuron disease with dementia and ophthalmoplegia	http://purl.obolibrary.org/obo/MONDO_0010869		http://identifiers.org/omim/600333|UMLS:C1838253|MESH:C563954
MONDO:0007230	Brachymorphism-onychodysplasia-dysphalangism syndrome	biolink:Disease	mondo	MESH:C536242|ICD10:Q87.1|Orphanet:1292|SCTID:720573009|UMLS:C1862082|OMIM:113477|GARD:0000918	ordo_malformation_syndrome	bod syndrome|Brachymorphism onychodysplasia dysphalangism syndrome|Brachymorphism-onychodysplasia-dysphalangism syndrome|Senior syndrome	http://purl.obolibrary.org/obo/MONDO_0007230	Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants.	UMLS:C1862082|http://identifiers.org/omim/113477|ORPHA:1292|SNOMEDCT:720573009|MESH:C536242
MONDO:0009893	polydactyly, postaxial, type A5	biolink:Disease	mondo	OMIM:263450|UMLS:C3550661		polydactyly, postaxial, type A5|PAPA5|polydactyly, postaxial, type A5; PAPA5	http://purl.obolibrary.org/obo/MONDO_0009893		http://identifiers.org/omim/263450|UMLS:C3550661
MONDO:0009892	Chuvash polycythemia	biolink:Disease	mondo	Orphanet:238557|UMLS:C1837915|MESH:C563918|DOID:0060474|OMIM:263400|ICD10:D75.1	ordo_disease	polycythemia, Chuvash type|Von Hippel-Lindau-dependent polycythemia|polycythemia, VHL-dependent|familial erythrocytosis 2|Chuvash erythromatosis|VHL familial polycythemia|Chuvash type polycythemia|erythrocytosis, familial, type 2|autosomal recessive benign erythrocytosis|Chuvash erythrocytosis|familial polycythemia caused by mutation in VHL|erythrocytosis, autosomal recessive benign|erythrocytosis, familial, 2; ECYT2|ECYT2|erythrocytosis, familial, 2|Chuvash polycythemia	http://purl.obolibrary.org/obo/MONDO_0009892	Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death.	http://identifiers.org/omim/263400|ORPHA:238557|DOID:0060474|UMLS:C1837915|MESH:C563918
MONDO:0007231	brachytelephalangy-dysmorphism-Kallmann syndrome	biolink:Disease	mondo	OMIM:113480|ICD10:Q87.0|MESH:C537101|Orphanet:1295|UMLS:C2931421	ordo_malformation_syndrome	BRACHYTELEPHALANGY with characteristic facies and Kallmann syndrome	http://purl.obolibrary.org/obo/MONDO_0007231	Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986.	MESH:C537101|http://identifiers.org/omim/113480|ORPHA:1295|UMLS:C2931421
MONDO:0009891	acquired polycythemia vera	biolink:Disease	mondo	ICD10:D45|NCIT:C3336|ONCOTREE:PV|MedDRA:10036057|MESH:D011087|COHD:135214|UMLS:C0032463|ICDO:9950/3|DOID:8997|ICD9:238.4|Orphanet:729|EFO:0002429|OMIM:263300|GARD:0007422	ordo_disease	polycythaemia rubra vera|Osler-Vaquez syndrome|PV|polycythemia vera; PV|primary polycythemia|polycythemia vera|Osler-Vaquez disease|PRV|polycythemia rubra vera|Vaquez disease|proliferative polycythaemia|acquired primary erythrocytosis	http://purl.obolibrary.org/obo/MONDO_0009891	Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production.	ORPHA:729|MESH:D011087|NCIT:C3336|UMLS:C0032463|DOID:8997|http://identifiers.org/omim/263300|MEDDRA:10036057
UBERON:0004099	joint space of elbow	biolink:AnatomicalEntity	mondo			synovial cavity of elbow joint	http://purl.obolibrary.org/obo/UBERON_0004099	Joint cavity shared by all the joints of the elbow. The elbow joint is a compound joint that actually comprises three separate joints: the joints connecting the upper and lower arm: 1) Articulatio humero-ulnaris and 2) Articulatio humero-radialis as well as the proximal joint connecting the forarm bones: 3) Articulatio radio-ulnaris proximalis. All three share a joint cavity which is highly sinuated/scalloped/coved. Joint spaces of the elbow summarizes the joint cavity shared by all three adjoining joints of the elbow joint.	
MONDO:0009890	Gillessen-Kaesbach-Nishimura syndrome	biolink:Disease	mondo	MESH:C564881|UMLS:C1849762|OMIM:263210		GIKANIS|polycystic kidney disease, Potter type I, with microbrachycephaly, hypertelorism, and brachymelia|Gillessen-Kaesbach-Nishimura syndrome; GIKANIS|polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia	http://purl.obolibrary.org/obo/MONDO_0009890		MESH:C564881|UMLS:C1849762|http://identifiers.org/omim/263210
MONDO:0010871	succinic acidemia	biolink:Disease	mondo	OMIM:600335|UMLS:C1838243|Orphanet:936|MESH:C563952		succinic acidemia	http://purl.obolibrary.org/obo/MONDO_0010871		UMLS:C1838243|ORPHA:936|MESH:C563952|http://identifiers.org/omim/600335
MONDO:0010870	tibial muscular dystrophy	biolink:Disease	mondo	UMLS:C1838244|OMIM:600334|Orphanet:609|ICD10:G71.0|DOID:0111078|UMLS:C1450052|SCTID:698846009	ordo_disease	distal myopathy, Udd type|tibial muscular dystrophy, tardive; TMD|Finnish tibial muscular dystrophy|Udd type distal myopathy|Udd myopathy|distal titinopathy|tibial muscular dystrophy, tardive|TMD|Tmd|tardive tibial muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0010870	Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life.	DOID:0111078|UMLS:C1838244|UMLS:C1450052|ORPHA:609|MESH:C536815|SNOMEDCT:698846009|http://identifiers.org/omim/600334
MONDO:0019207	DEND syndrome	biolink:Disease	mondo	SCTID:721088003|ICD10:P70.2|Orphanet:79134|UMLS:C1853564|UMLS:C4303593|NCIT:C131845	ordo_disease	developmental delay-epilepsy-neonatal diabetes syndrome|K ATP associated developmental delay, epilepsy and neonatal diabetes	http://purl.obolibrary.org/obo/MONDO_0019207	DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes.	NCIT:C131845|UMLS:C1853564|SNOMEDCT:721088003|ORPHA:79134|UMLS:C4303593
MONDO:0010873	band heterotopia of brain	biolink:Disease	mondo	MESH:C563950|UMLS:C1838239|OMIM:600348		band heterotopia of brain|band heterotopia; BH|BH	http://purl.obolibrary.org/obo/MONDO_0010873		UMLS:C1838239|MESH:C563950|http://identifiers.org/omim/600348
MONDO:0010872	PDDP	biolink:Disease	mondo	OMIM:600343		PDDP|parotid salivary glands, polycystic dysgenetic disease OF|parotid salivary glands, polycystic dysgenetic disease OF; PDDP	http://purl.obolibrary.org/obo/MONDO_0010872		http://identifiers.org/omim/600343
MONDO:0019206	sparse hair-short stature-skin anomalies syndrome	biolink:Disease	mondo	Orphanet:79132|UMLS:CN205797	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0019206	Sparse hair-short stature-skin anomalies syndrome combines short stature, sparse hair, skin hyperpigmentation and urticaria-like reactions on the hands and arms. An upper central incisor, hypoplastic thumbs and/or palmoplantar hyperkeratosis may also be present. It is thought to be a rare form of ectodermal dysplasia and has been described at least once in a mother and her three sons. Transmission is autosomal dominant, or X-linked.	UMLS:CN205797|ORPHA:79132
MONDO:0019209	Japanese encephalitis	biolink:Disease	mondo	MESH:D004672|Orphanet:79139|GARD:0006797|NCIT:C34577|EFO:0007332|UMLS:C0014057|ICD9:062.0|SCTID:52947006|MedDRA:10014596|DOID:10844|ICD10:A83.0	ordo_disease|gard_rare	Japanese B encephalitis|JE	http://purl.obolibrary.org/obo/MONDO_0019209	A disease due to a virus transmitted by an arthropod).	SNOMEDCT:52947006|MEDDRA:10014596|MESH:D004672|DOID:10844|UMLS:C0014057|NCIT:C34577|ORPHA:79139
MONDO:0010875	pachydermodactyly, familial	biolink:Disease	mondo	OMIM:600356|MESH:C563947|UMLS:C1838218		pachydermodactyly, familial	http://purl.obolibrary.org/obo/MONDO_0010875		UMLS:C1838218|MESH:C563947|http://identifiers.org/omim/600356
RO:0002314	inheres in part of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002314	q inheres in part of w if and only if there exists some p such that q inheres in p and p part of w.	
MONDO:0019208	Bickerstaff brainstem encephalitis	biolink:Disease	mondo	Orphanet:79138|ICD9:323.81|ICD10:G61.0|UMLS:C1960543|SCTID:427086003	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019208	Bickerstaff's brainstem encephalitis (BBE) is a rare post-infectious neurological disease characterized by the association of external ophthalmoplegia, ataxia, lower limb arreflexia, extensor plantar response and disturbance of consciousness (drowsiness, stupor or coma).	UMLS:C1960543|SNOMEDCT:427086003|ORPHA:79138
MONDO:0010874	enteropathy, familial, with villous edema and immunoglobulin G2 deficiency	biolink:Disease	mondo	MESH:C563949|OMIM:600351|UMLS:C1838238		enteropathy, familial, with villous edema and immunoglobulin G2 deficiency	http://purl.obolibrary.org/obo/MONDO_0010874		UMLS:C1838238|MESH:C563949|http://identifiers.org/omim/600351
MONDO:0019203	acute interstitial pneumonia	biolink:Disease	mondo	ICD10:J84.1|GARD:0012835|Orphanet:79126|NCIT:C35806|ICD9:516.33|DOID:2800|ICD10:J84.114|UMLS:C1279945|COHD:4341520|MedDRA:10066728|SCTID:236302005	ordo_disease	AIP|Hamman-rich disease|idiopathic pulmonary fibrosis, acute fatal form|accelerated interstitial pneumonia|Hamman-rich syndrome|acute interstitial pneumonitis	http://purl.obolibrary.org/obo/MONDO_0019203	Acute interstitial pneumonia (AIP), also referred to as Hamman-Rich syndrome, is a rapidly progressive and histologically distinct form of idiopathic interstitial pneumonia.	DOID:2800|MEDDRA:10066728|UMLS:C0085786|NCIT:C35806|SNOMEDCT:236302005|UMLS:C1279945|ORPHA:79126
UBERON:5102544	individual digit of digitopodial skeleton	biolink:AnatomicalEntity	mondo			digit skeleton|digit	http://purl.obolibrary.org/obo/UBERON_5102544	A subdivision of the skeleton of the autopod consisting of the phalanges of a single digit plus the associated metapodial element.	
MONDO:0019202	myxofibrosarcoma	biolink:Disease	mondo	SCTID:253042009|ICDO:8811/3|DOID:0080534|ONCOTREE:MFS|ICD10:C49.9|MedDRA:10066948|NCIT:C6496|Orphanet:79105	ordo_disease	myxofibrosarcoma|MFS|fibromyxosarcoma|myxoid malignant fibrous histiocytoma|myxoid fibrous histiocytoma|myxoid MFH	http://purl.obolibrary.org/obo/MONDO_0019202	A malignant fibroblastic neoplasm arising from the soft tissue. It is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma.	MEDDRA:10066948|DOID:0080534|ORPHA:79105|NCIT:C6496|SNOMEDCT:253042009
HGNC:17158	PLD3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17158		
MONDO:0019205	trichodysplasia-amelogenesis imperfecta syndrome	biolink:Disease	mondo	Orphanet:79129|UMLS:CN205796	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0019205	The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked.	UMLS:CN205796|ORPHA:79129
MONDO:0022846	congenital nonhemolytic jaundice	biolink:Disease	mondo	GARD:0006177	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022846		
MONDO:0019204	respiratory bronchiolitis-interstitial lung disease syndrome	biolink:Disease	mondo	ICD10:J68.4|MedDRA:10066393|Orphanet:79127|UMLS:CN205794	ordo_disease	RB-ILD	http://purl.obolibrary.org/obo/MONDO_0019204	Respiratory bronchiolitis - interstitial lung disease is a mild inflammatory pulmonary disorder developed by cigarette smokers and characterized by shortness of breath and cough, pulmonary function abnormalities of mixed restrictive and obstructive lung disease and high resolution CT scanning showing centrilobular micronodules, ground glass opacities and peribronchiolar thickening.	UMLS:CN205794|MEDDRA:10066393|UMLS:C1735355|ORPHA:79127|UMLS:C1276236
MONDO:0022849	congenital stenosis of cervical medullary canal	biolink:Disease	mondo	GARD:0001504	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022849		
MONDO:0019201	thyrotoxic periodic paralysis	biolink:Disease	mondo	MedDRA:10043788|DC:0000438|Orphanet:79102|GARD:0010814|UMLS:C0268446|ICD10:G72.3|OMIMPS:188580|SCTID:30967002	gard_rare|ordo_disease	thyrotoxic hypokalemic periodic paralysis	http://purl.obolibrary.org/obo/MONDO_0019201	Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.	MEDDRA:10043788|UMLS:C0268446|ORPHA:79102|SNOMEDCT:30967002
MONDO:0019200	retinitis pigmentosa	biolink:Disease	mondo	DOID:10584|SCTID:28835009|MedDRA:10038914|ICD10:H35.52|UMLS:C0035334|OMIM:268000|GARD:0005694|Orphanet:791|NCIT:C85045|OMIMPS:268000|UMLS:C4072872|MESH:D012174|ICD10:H35.5	clingen|prototype_pattern|ordo_disease	pericentral pigmentary retinopathy|Rod-cone dystrophy	http://purl.obolibrary.org/obo/MONDO_0019200	Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.	DOID:10584|SNOMEDCT:28835009|MEDDRA:10038914|MESH:D012174|http://identifiers.org/omim/268000|ORPHA:791|NCIT:C85045|UMLS:C0035334|UMLS:C4072872
MONDO:0007209	Weismann-Netter syndrome	biolink:Disease	mondo	ICD10:Q77.8|SCTID:715532007|Orphanet:3344|MESH:C537082|UMLS:C1862172|GARD:0005232|OMIM:112350	ordo_malformation_syndrome	Toxopachyosteose Diaphysaire Tibio-Peroniere|bowing of legs, anterior, with dwarfism|bowing of legs, anterior with dwarfism|Weismann Netter syndrome|anterior bowing of legs with dwarfism|Weismann-Netter syndrome|WEISMANN-NETTER syndrome; WNS|WNS|Weismann-Netter-Stuhl syndrome	http://purl.obolibrary.org/obo/MONDO_0007209	Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated.	ORPHA:3344|UMLS:C1862172|MESH:C537082|http://identifiers.org/omim/112350|SNOMEDCT:715532007
HGNC:20772	TUBB3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20772		
FOODON:03401270	U.S. code of federal regulations, title 21 food product type	biolink:OntologyClass	mondo	http://www.langual.org/langual_thesaurus.asp?termid=A1270			http://purl.obolibrary.org/obo/FOODON_03401270	Food and Drugs, title 21, Code of Federal Regulations. Original food classification in LanguaL.	
HP:0100786	Hypersomnia	biolink:PhenotypicFeature	mondo	UMLS:C0917799|SNOMEDCT_US:77692006|MSH:D006970		Excessive sleepiness	http://purl.obolibrary.org/obo/HP_0100786		
HGNC:20773	TUBB8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20773		
MONDO:0007207	Böök syndrome	biolink:Disease	mondo	SCTID:722296002|OMIM:112300|ICD10:Q82.4|UMLS:C0457014|MESH:C562993|Orphanet:1262|GARD:0000932	ordo_malformation_syndrome	Böök syndrome|PHC syndrome|premolar aplasia, hyperhidrosis, and canities prematura|book syndrome	http://purl.obolibrary.org/obo/MONDO_0007207	Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics.	UMLS:C0457014|SNOMEDCT:722296002|MESH:C562993|http://identifiers.org/omim/112300|ORPHA:1262
MONDO:0007208	Boomerang dysplasia	biolink:Disease	mondo	MESH:C536573|ICD10:Q87.1|DOID:0050680|UMLS:C0432201|GARD:0000933|OMIM:112310|Orphanet:1263|ICD9:756.9|SCTID:254054000	gard_rare|ordo_disease	Boomerang-like skeletal dysplasia|dwarfism with short, bowed, rigid limbs and characteristic facies|Boomerang dysplasia	http://purl.obolibrary.org/obo/MONDO_0007208	Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.	DOID:0050680|MESH:C536573|UMLS:C0432201|SNOMEDCT:254054000|ORPHA:1263|http://identifiers.org/omim/112310
MONDO:0009869	isolated Pierre-Robin syndrome	biolink:Disease	mondo	MESH:D010855|GARD:0004354|GARD:0004347|ICD10:Q87.0|NCIT:C85010|SCTID:4602007|Orphanet:718|OMIM:261800	gard_rare|ordo_malformation_syndrome	Pierre Robin syndrome; PRBNS|glossoptosis, micrognathia, and cleft palate|isolated Pierre Robin syndrome|Pierre-Robin syndrome|syndrome, Pierre-Robin|Pierre Robin syndrome skeletal dysplasia polydactyly|syndrome, Pierre Robin|sequence, Pierre Robin|Robin sequence|Pierre Robin syndrome|sequence, Robin|sequence, Pierre Robin's|Robin syndrome, Pierre|Pierre Robin sequence|Pierre Robin's sequence|PRBNS|isolated Pierre Robin sequence|Pierre Robins sequence	http://purl.obolibrary.org/obo/MONDO_0009869	Pierre-Robin syndrome (or Pierre-Robin sequence) is characterised by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft.	NCIT:C85010|SNOMEDCT:4602007|MESH:D010855|http://identifiers.org/omim/261800|ORPHA:718
MONDO:0022841	congenital hypotrichosis milia	biolink:Disease	mondo	GARD:0001488	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022841		
MONDO:0009868	glycogen storage disease IXb	biolink:Disease	mondo	MESH:C563008|Orphanet:79240|DOID:0111041|OMIM:261750|UMLS:C0543514|ICD10:E74.0	ordo_disease	glycogenosis type IXb|glycogen storage disease IXb|PHKB-related glycogen storage disease type IX|glycogen storage disease due to liver and muscle phosphorylase kinase deficiency|glycogenosis type 9B|PHKB glycogen storage disease|glycogenosis due to liver and muscle phosphorylase kinase deficiency|glycogen storage disease type IXb|GSD9B|glycogen storage disease IXb; GSD9B|GSD type 9B|glycogenosis of liver and muscle, autosomal recessive|glycogen storage disease type 9B|GSD IXb|glycogen storage disease caused by mutation in PHKB|phosphorylase kinase deficiency of liver and muscle, autosomal recessive|GSD type IXb|GSD due to liver and muscle phosphorylase kinase deficiency	http://purl.obolibrary.org/obo/MONDO_0009868	Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency.	MESH:C563008|UMLS:C0543514|DOID:0111041|http://identifiers.org/omim/261750|ORPHA:79240
MONDO:0007205	diaphyseal medullary stenosis-bone malignancy syndrome	biolink:Disease	mondo	UMLS:C1862177|ICD10:M89.8|GARD:0010072|NCIT:C122660|Orphanet:85182|OMIM:112250	ordo_disease	Hardcastle's syndrome|bone dysplasia-medullary fibrosarcoma syndrome|myopathy, limb-girdle, with bone fragility|DMSMFH|diaphyseal medullary stenosis with malignant fibrous histiocytoma|diaphyseal medullary stenosis with malignant fibrous histiocytoma; DMSMFH|DMS-MFH|Hardcastle syndrome|bone dysplasia with medullary fibrosarcoma|bone dysplasia with malignant fibrous histiocytoma|BDMF|diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome	http://purl.obolibrary.org/obo/MONDO_0007205	Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).	UMLS:C1300202|UMLS:C1862177|NCIT:C122660|http://identifiers.org/omim/112250|ORPHA:85182|MESH:C536169
MONDO:0022843	congenital mumps	biolink:Disease	mondo	GARD:0001498	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022843		
MONDO:0009867	lethal congenital glycogen storage disease of heart	biolink:Disease	mondo	UMLS:C1849813|ICD10:G73.6*|GARD:0010728|MESH:C564888|ICD10:E74.0+|DOID:0090101|OMIM:261740|Orphanet:439854	ordo_disease	fatal congenital hypertrophic cardiomyopathy due to glycogenosis|fatal congenital nonlysosomal cardiac glycogenosis|glycogen storage disease of heart|glycogen storage disease caused by mutation in PRKAG2|phosphorylase kinase deficiency of heart|glycogen storage disease of heart, lethal congenital|fatal congenital hypertrophic cardiomyopathy due to GSD|PRKAG2 glycogen storage disease|fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease	http://purl.obolibrary.org/obo/MONDO_0009867	Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene.	MESH:C564888|UMLS:C1849813|ORPHA:439854|http://identifiers.org/omim/261740|DOID:0090101
MONDO:0007206	bone pain, periodic	biolink:Disease	mondo	OMIM:112270		bone pain, periodic	http://purl.obolibrary.org/obo/MONDO_0007206		http://identifiers.org/omim/112270
MONDO:0009866	phosphoenolpyruvate carboxykinase deficiency, cytosolic	biolink:Disease	mondo	GARD:0004278|OMIM:261680|Orphanet:79316	gard_rare	phosphoenolpyruvate carboxykinase deficiency, cytosolic; PCKDC|phosphopyruvate carboxylase deficiency|PCK1 deficiency, cytosolic|phosphoenolpyruvate carboxykinase deficiency|PEPCK1 deficiency|PEP carboxykinase deficiency|PCKDC|phosphoenolpyruvate carboxykinase deficiency, cytosolic|PEPCK deficiency, cytosolic|phosphoenolpyruvate carboxylase deficiency|PEPCK 1 deficiency|phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency	http://purl.obolibrary.org/obo/MONDO_0009866	PEPCK1 deficiency is a rare inborn error of metabolism disorder, characterized by the deficiency of the enzyme PEPCK1, one of the enzymes needed for gluconeogenesis, the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids). The symptoms described in the few cases reported in the medical literature suggest that there may be variation in the severity of the symptoms ranging from severe early-onset cases, to milder late-onset presentations. In severe cases symptoms may include persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia), failure to thrive, build-up of lactic acid in the blood (lactic acidosis), liver enlargement (hepatomegaly) and liver failure leading to neurological degeneration. Milder cases present during childhood with fewer and less serious liver problems. Infections and fasting may trigger the symptoms. PEPCK1 deficiency inheritance is autosomal recessive. It is caused by mutations in the PEPCK1 gene. Some researchers believe that the severity of the disease depend upon the mutations resulting in less or more PEPCK1 activity (the more active the enzyme is, the less severe the disease is, and vice versa). Treatment depend on the symptoms and may include giving extra carbohydrates during heavy exercise and illness or other times of fasting (formal sick day regimen) by the dietitian.PEPCK1 is the cytosolic form of the phosphoenolpyruvate carboxykinase (PEPCK) enzyme, the other being the mitochondrial (PEPCK2).	http://identifiers.org/omim/261680|ORPHA:79316
MONDO:0010855	short tarsus-absence of lower eyelashes syndrome	biolink:Disease	mondo	GARD:0000296|OMIM:600269|ICD10:Q87.2|UMLS:C1838328|Orphanet:2832|MESH:C537036|SCTID:721075001	ordo_malformation_syndrome	Lopes-Gorlin syndrome|Lopes Gorlin syndrome|short tarsus absence of lower eyelashes|short tarsus with absence of LOWER eyelashes|short tarsus with absence of LOWER eyelashes; stale|stale	http://purl.obolibrary.org/obo/MONDO_0010855	Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.	http://identifiers.org/omim/600269|SNOMEDCT:721075001|MESH:C537036|ORPHA:2832|UMLS:C1838328
MONDO:0007203	blue rubber bleb nevus	biolink:Disease	mondo	MESH:C536240|OMIM:112200|Orphanet:1059|GARD:0005940|NCIT:C4486|ICD10:Q27.8|SCTID:254784002|UMLS:C0346072	ordo_malformation_syndrome	BRBN|blue rubber bleb nevus|bean syndrome|blue rubber bleb nevus syndrome|BRBNS	http://purl.obolibrary.org/obo/MONDO_0007203	Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.	NCIT:C4486|UMLS:C0346072|ORPHA:1059|http://identifiers.org/omim/112200|MESH:C536240|SNOMEDCT:254784002
MONDO:0009865	glycogen storage disease due to phosphoglycerate mutase deficiency	biolink:Disease	mondo	MESH:C536176|ICD10:E74.0|OMIM:261670|GARD:0009964|SCTID:61772003|Orphanet:97234|NCIT:C131647	ordo_disease	glycogen storage disease 10|GSD 10|myopathy due to Phosphoglycerate mutase deficiency|Phosphoglycerate mutase deficiency|glycogen storage disease type 10|myopathy due to phosphoglycerate mutase deficiency|glycogen storage disease X; GSD10|GSDX|PGAM2 glycogen storage disease|glycogenosis due to phosphoglycerate mutase deficiency|PGAM deficiency|GSD10|PGAMM deficiency|GSD due to phosphoglycerate mutase deficiency|glycogen storage disease caused by mutation in PGAM2|GSD type 10|Phosphoglycerate mutase, muscle, deficiency of|glycogen storage disease X|muscle phosphoglycerate mutase deficiency	http://purl.obolibrary.org/obo/MONDO_0009865	A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy.	SNOMEDCT:61772003|ORPHA:97234|http://identifiers.org/omim/261670|MESH:C536176|NCIT:C131647
MONDO:0007204	Cole-Carpenter syndrome 1	biolink:Disease	mondo	UMLS:C4317154|UMLS:CN029402|OMIM:112240		Cole-Carpenter syndrome caused by mutation in P4HB|bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive Facial features|P4HB Cole-Carpenter syndrome|Cole-Carpenter syndrome 1|COLE-CARPENTER syndrome 1; CLCRP1|CLCRP1|Cole-Carpenter syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0007204	Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the P4HB gene.	UMLS:CN029402|UMLS:C4317154|http://identifiers.org/omim/112240
MONDO:0010854	Toriello-Lacassie-Droste syndrome	biolink:Disease	mondo	OMIM:600268|DOID:0111705|Orphanet:3339|GARD:0010366|UMLS:C1838329|MESH:C563969|SCTID:723554006	ordo_malformation_syndrome	oculoectodermal syndrome; oes|oculoectodermal syndrome|oculo-ectodermal syndrome|oes|aplasia cutis congenita-epibulbar dermoids syndrome|aplasia cutis congenita with epibulbar dermoids|Toriello Lacassie Droste syndrome	http://purl.obolibrary.org/obo/MONDO_0010854	Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.	ORPHA:3339|http://identifiers.org/omim/600268|UMLS:C1838329|DOID:0111705|MESH:C563969|SNOMEDCT:723554006
HGNC:29105	PLEKHG5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29105		
MONDO:0009864	phosphoenolpyruvate carboxykinase deficiency, mitochondrial	biolink:Disease	mondo	OMIM:261650|Orphanet:79317|UMLS:C1849821|MESH:C564890|GARD:0004279		PEPCK2 deficiency|PEPCK2|phosphoenolpyruvate carboxykinase 2 deficiency|PCKDM|phosphoenolpyruvate carboxykinase deficiency, mitochondrial|phosphoenolpyruvate carboxykinase deficiency, mitochondrial; PCKDM|PCK2 deficiency|PEPCK 2 deficiency	http://purl.obolibrary.org/obo/MONDO_0009864		MESH:C564890|UMLS:C1849821|http://identifiers.org/omim/261650|ORPHA:79317
MONDO:0007201	blepharophimosis, ptosis, and epicanthus inversus syndrome	biolink:Disease	mondo	MESH:C562419|DOID:14778|ICD10:Q10.3|OMIM:110100|Orphanet:126|SCTID:715391004|UMLS:C0220663|GARD:0000023	gard_rare|ordo_malformation_syndrome	blepharophimosis, ptosis, and epicanthus inversus syndrome type 1|blepharophimosis syndrome type 1|BPES type 1|blepharophimosis, ptosis, epicanthus inversus with ovarian failure|BPES with premature ovarian failure|blepharophimosis types 1 and 2|BPES with ovarian failure|BPES|blepharophimosis, ptosis, and epicanthus inversus|blepharophimosis-epicanthus inversus-ptosis syndrome|BPES without ovarian failure|BPES, type 2|BPES, type 1|BPES with Duane retraction syndrome|blepharophimosis, ptosis, epicanthus inversus syndrome|BPES, type I, autosomal recessive|blepharophimosis, ptosis, and epicanthus inversus; BPES	http://purl.obolibrary.org/obo/MONDO_0007201	Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF) (type II).	MESH:C562419|UMLS:C0220663|ORPHA:126|SNOMEDCT:715391004|http://identifiers.org/omim/110100|DOID:14778
RO:0002310	exposure event or process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002310	A process occurring within or in the vicinity of an organism that exerts some causal influence on the organism via the interaction between an exposure stimulus and an exposure receptor. The exposure stimulus may be a process, material entity or condition (for example, lack of nutrients). The exposure receptor can be an organism, organism population or a part of an organism.	
MONDO:0010857	semantic dementia	biolink:Disease	mondo	OMIM:600274|GARD:0010792|Orphanet:100069|ICD10:G31.0	ordo_disease	frontotemporal lobar Degeneration with Tau inclusions|Wilhelmsen-Lynch disease|frontotemporal dementia with Parkinsonism|frontotemporal dementia|frontotemporal lobe dementia|disinhibition-dementia-Parkinsonism-amyotrophy Complex|semantic primary progressive aphasia|multiple system tauopathy with presenile dementia|dementia, frontotemporal, with Parkinsonism|frontotemporal dementia; FTD|Pallidopontonigral Degeneration|Pick Complex|Ftdp17|Ftld with Tau inclusions|semantic variant PPA|FTD	http://purl.obolibrary.org/obo/MONDO_0010857	Semantic dementia (SD) is a form of frontotemporal dementia (FTD), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.	http://identifiers.org/omim/600274|UMLS:C0338462|ORPHA:100069
HGNC:29106	DDHD2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29106		
MONDO:0009863	BH4-deficient hyperphenylalaninemia A	biolink:Disease	mondo	NCIT:C138171|DOID:0090106|OMIM:261640|GARD:5682|UMLS:C0878676|MESH:C535325|Orphanet:13|ICD10:E70.1|SCTID:237914002|GARD:0005682	ordo_clinical_subtype	hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to PTS deficiency|6-pyruvoyl tetrahydropterin synthase deficiency|6-pyruvoyl-tetrahydropterin synthase deficiency|Bh4-deficient hyperphenylalaninemia type A|hyperphenylalaninemia, BH4-deficient, type A|hyperphenylalaninemia, Bh4-deficient, type a|hyperphenylalanemia, BH4-deficient, A|hyperphenylalaninemia, BH4-deficient A|HPABH4A|tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency|PTS deficiency hyperphenylalaninemia, BH4-deficient, due to partial PTS deficiency, included|PTS deficiency|hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency|hyperphenylalaninemia, BH4-deficient, A|hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency|hyperphenylalaninemia, Bh4-deficient, due to partial PTS deficiency|hyperphenylalaninemia, BH4-deficient, A; HPABH4A	http://purl.obolibrary.org/obo/MONDO_0009863	An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits.	UMLS:C0878676|ORPHA:13|SNOMEDCT:237914002|http://identifiers.org/omim/261640|MESH:C535325|DOID:0090106|NCIT:C138171
MONDO:0010856	autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	biolink:Disease	mondo	UMLS:C1838327|Orphanet:88924|MESH:C536328|OMIM:600273|GARD:0009481|SCTID:765331004	ordo_disease	polycystic kidneys, severe infantile with tuberous sclerosis|chromosome 16P13.3 deletion syndrome, distal|polycystic kidney disease, infantile severe, with tuberous sclerosis|tuberous sclerosis/polycystic kidney disease contiguous gene syndrome|polycystic kidney disease, infantile severe, with tuberous sclerosis; PKDTS|tuberous sclerosis polycystic kidney disease contiguous gene syndrome|PKDTS	http://purl.obolibrary.org/obo/MONDO_0010856	Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterised by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).	SNOMEDCT:765331004|http://identifiers.org/omim/600273|ORPHA:88924|MESH:C536328|UMLS:C1838327
MONDO:0007202	blepharoptosis-myopia-ectopia lentis syndrome	biolink:Disease	mondo	SCTID:717915004|OMIM:110150|MESH:C536236|GARD:0000912|Orphanet:1259|ICD10:Q15.8|UMLS:C1862259	ordo_disease	blepharoptosis, myopia, and ectopia lentis|blepharoptosis myopia ectopia lentis|dominantly inherited blepharoptosis, high myopia, and ectopia lentis	http://purl.obolibrary.org/obo/MONDO_0007202	This syndrome is characterised by bilateral congenital blepharoptosis, ectopia lentis and high myopia.	SNOMEDCT:717915004|UMLS:C1862259|ORPHA:1259|MESH:C536236|http://identifiers.org/omim/110150
MONDO:0009862	dihydropteridine reductase deficiency	biolink:Disease	mondo	NCIT:C138173|SCTID:58256000|ICD10:E70.1|GARD:0004319|Orphanet:226|OMIM:261630	ordo_clinical_subtype|gard_rare	hyperphenylalaninemia, BH4-deficient, C; HPABH4C|hyperphenylalaninemia, Bh4-deficient, type C|6,7-dihydropteridine reductase activity disease|hyperphenylalaninemia, BH4-deficient, C|dihydropteridine reductase deficiency|hyperphenylalaninemia, BH4-deficient C|Qdpr deficiency|quinoid dihydropteridine reductase deficiency|DHPR deficiency|phenylketonuria type 2|PKU type 2|hyperphenylalaninemia, BH-4-deficient, C|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to DHPR deficiency|disorder of 6,7-dihydropteridine reductase activity|HPABH4C|disorder of 6,7-dihydropteridine reductase activity|hyperphenylalaninemia due to dihydropteridine reductase deficiency	http://purl.obolibrary.org/obo/MONDO_0009862	Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties.	SNOMEDCT:58256000|UMLS:C0268465|ORPHA:226|UMLS:C2936906|http://identifiers.org/omim/261630|MESH:C537896|NCIT:C138173
MONDO:0010859	atrioventricular septal defect 3	biolink:Disease	mondo	OMIM:600309|UMLS:C3275750		GJA1 atrioventricular septal defect|atrioventricular septal defect caused by mutation in GJA1|AVSD3|atrioventricular septal defect 3|atrioventricular septal defect type 3|atrioventricular septal defect 3; AVSD3	http://purl.obolibrary.org/obo/MONDO_0010859	Any atrioventricular septal defect in which the cause of the disease is a mutation in the GJA1 gene.	UMLS:C3275750|http://identifiers.org/omim/600309
MONDO:0010858	macrocephaly-spastic paraplegia-dysmorphism syndrome	biolink:Disease	mondo	OMIM:600302|SCTID:716108004|ICD10:Q87.8|MESH:C563963|Orphanet:2429|UMLS:C1838281	ordo_malformation_syndrome	macrocephaly with spastic paraplegia and distinctive craniofacial appearance|Fryns macrocephaly	http://purl.obolibrary.org/obo/MONDO_0010858	Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.	http://identifiers.org/omim/600302|SNOMEDCT:716108004|ORPHA:2429|UMLS:C1838281|MESH:C563963
MONDO:0009861	phenylketonuria	biolink:Disease	mondo	MESH:D010661|GARD:0007383|SCTID:7573000|NCIT:C81315|UMLS:C0031485|MedDRA:10034872|Orphanet:716|OMIM:261600|ICD10:E70.1|DOID:9281|ICD10:E70.0|ICD9:270.1	clingen|ordo_disease	PKU|Folling's syndrome|hyperphenylalaninemia, non-PKU mild|phenylketonuria; PKU|phenylketonuria, maternal|oligophrenia Phenylpyruvica|oligophrenia phenylpyruvica|phenylketonuria|imbecilitus phenylpyruvica|HPA, non-PKU mild|Følling's disease|phenylpyruvic oligophrenia|Folling disease|phenylalanine hydroxylase deficiency|phenylalaninemia|Pah deficiency|pah deficiency|Folling's disease|maternal phenylketonuria|PAH deficiency	http://purl.obolibrary.org/obo/MONDO_0009861	Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients.	DOID:9281|UMLS:C0031485|NCIT:C81315|http://identifiers.org/omim/261600|ORPHA:716|MEDDRA:10034872|SNOMEDCT:7573000|MESH:D010661
MONDO:0007200	blepharonasofacial malformation syndrome	biolink:Disease	mondo	ICD10:Q87.0|Orphanet:1252|SCTID:717913006|OMIM:110050|GARD:0004238|MESH:C536303|UMLS:C0796197	gard_rare|ordo_malformation_syndrome	Pashayan syndrome|blepharonasofacial malformation syndrome|Pashayan-Prozansky syndrome	http://purl.obolibrary.org/obo/MONDO_0007200	Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability.	UMLS:C0796197|ORPHA:1252|SNOMEDCT:717913006|MESH:C536303|http://identifiers.org/omim/110050
HGNC:29101	ANKLE2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29101		
MONDO:0009860	phenformin 4-hydroxylation	biolink:Disease	mondo	OMIM:261590		phenformin 4-hydroxylation	http://purl.obolibrary.org/obo/MONDO_0009860		http://identifiers.org/omim/261590
UBERON:0004088	orbital region	biolink:AnatomicalEntity	mondo			orbital content|content of orbital part of eye|orbital part of eye|orbital part of face|ocular region|eye region|ocular and peri-ocular region	http://purl.obolibrary.org/obo/UBERON_0004088	The subdivision of the face that includes the eye (eyeball plus adnexa such as eyelids) and the orbit of the skull and associated parts of the face such as the eyebrows, if present	
RO:0002305	causally upstream of, negative effect	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002305		
UBERON:0004089	midface	biolink:AnatomicalEntity	mondo			lower face|midface/lower face|snout	http://purl.obolibrary.org/obo/UBERON_0004089	The middle of the face including the nose and its associated bony structures[MW].	
MONDO:0010860	autosomal recessive nonsyndromic deafness 3	biolink:Disease	mondo	MESH:C563961|DOID:0110488|UMLS:C1838263|ICD10:H90.3|OMIM:600316		autosomal recessive nonsyndromic deafness type 3|MYO15A autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 3|deafness, autosomal recessive type 3|deafness, autosomal recessive 3; DFNB3|NRSD3|autosomal recessive nonsyndromic deafness caused by mutation in MYO15A|autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3|DFNB3|neurosensory nonsyndromic recessive deafness 3	http://purl.obolibrary.org/obo/MONDO_0010860	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO15A gene.	UMLS:C1838263|DOID:0110488|MESH:C563961|http://identifiers.org/omim/600316
UBERON:0004086	brain ventricle	biolink:AnatomicalEntity	mondo			cerebral ventricle|region of ventricular system of brain|brain ventricles	http://purl.obolibrary.org/obo/UBERON_0004086	one of the system of communicating cavities in the brain that are continuous with the central canal of the spinal cord, that like it are derived from the medullary canal of the embryo, that are lined with an epithelial ependyma, and that contain a serous fluid	
UBERON:0004087	vena cava	biolink:AnatomicalEntity	mondo			caval vein|venae cavae	http://purl.obolibrary.org/obo/UBERON_0004087	Any of the veins that carries deoxygenated blood from a part of the body into the right atrium of the heart.	
MONDO:0010862	type 1 diabetes mellitus 4	biolink:Disease	mondo	ICD10:E10|UMLS:C1838261|DOID:0110743|MESH:C563959|OMIM:600319		diabetes mellitus, insulin-dependent, 4|insulin-dependent diabetes mellitus 4|IDDM4|diabetes mellitus, insulin-dependent, 4; IDDM4	http://purl.obolibrary.org/obo/MONDO_0010862	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 11q13.	UMLS:C1838261|DOID:0110743|MESH:C563959|http://identifiers.org/omim/600319
UBERON:0004084	genital labium	biolink:AnatomicalEntity	mondo			labia|labium|genital labia	http://purl.obolibrary.org/obo/UBERON_0004084	One of the folds of skin which form the inner lips (labia minora) and outer lips (labia majora) on both sides of the vaginal opening.	
GO:0042303	molting cycle	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0042303	The periodic casting off and regeneration of an outer covering of cuticle, feathers, hair, horns, skin, etc.	
UBERON:0004085	labium majora	biolink:AnatomicalEntity	mondo			labium majus|labia majorum|labium majorum|labium majora|labium majus pudendi	http://purl.obolibrary.org/obo/UBERON_0004085	One of the folds of skin which form the outer lips on both sides of the vaginal opening	
MONDO:0010861	type 1 diabetes mellitus 3	biolink:Disease	mondo	MESH:C563960|DOID:0110742|OMIM:600318|ICD10:E10|UMLS:C1838262		diabetes mellitus, insulin-dependent, 3|insulin-dependent diabetes mellitus 3|IDDM3|diabetes mellitus, insulin-dependent, 3; IDDM3	http://purl.obolibrary.org/obo/MONDO_0010861	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 15q26.	UMLS:C1838262|DOID:0110742|MESH:C563960|http://identifiers.org/omim/600318
HGNC:17129	SLC39A4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17129		
MONDO:0010864	type 1 diabetes mellitus 7	biolink:Disease	mondo	OMIM:600321|UMLS:C1838259|ICD10:E10|DOID:0110746|MESH:C563957		diabetes mellitus, insulin-dependent, 7; IDDM7|insulin-dependent diabetes mellitus 7|diabetes mellitus, insulin-dependent, 7|IDDM7	http://purl.obolibrary.org/obo/MONDO_0010864	A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q31.	http://identifiers.org/omim/600321|UMLS:C1838259|DOID:0110746|MESH:C563957
RO:0002303	has habitat	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002303	x 'has habitat' y if and only if: x is an organism, y is a habitat, and y can sustain and allow the growth of a population of xs.	
GO:0042304	regulation of fatty acid biosynthetic process	biolink:OntologyClass	mondo			regulation of fatty acid synthesis|regulation of fatty acid formation|regulation of fatty acid anabolism|regulation of fatty acid biosynthesis	http://purl.obolibrary.org/obo/GO_0042304	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of fatty acids, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils.	
MONDO:0010863	type 1 diabetes mellitus 5	biolink:Disease	mondo	ICD10:E10|OMIM:600320|DOID:0110744|UMLS:C1838260|MESH:C563958		IDDM5|type 1 diabetes mellitus caused by mutation in SUMO4|diabetes mellitus, insulin-dependent, 5; IDDM5|diabetes mellitus, insulin-dependent, type 5|diabetes mellitus, insulin-dependent, 5|insulin-dependent diabetes mellitus 5|SUMO4 type 1 diabetes mellitus	http://purl.obolibrary.org/obo/MONDO_0010863	Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the SUMO4 gene.	http://identifiers.org/omim/600320|UMLS:C1838260|DOID:0110744|MESH:C563958
RO:0002304	causally upstream of, positive effect	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002304		
RO:0002309	has exposure stimulus	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002309	A relationship between an exposure event or process and any agent, stimulus, activity, or event that causally effects an organism and interacts with an exposure receptor during an exposure event.	
HGNC:30100	PSENEN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30100		
MONDO:0022839	congenital human immunodeficiency virus	biolink:Disease	mondo	GARD:0010328|UMLS:C0520783	gard_rare	congenital HIV|neonatal HIV|neonatal human immunodeficiency virus	http://purl.obolibrary.org/obo/MONDO_0022839		UMLS:C0520783
HP:0100799	Neoplasm of the middle ear	biolink:PhenotypicFeature	mondo	UMLS:C0345617|SNOMEDCT_US:127006003|NCIT:C3262		Neoplasia of the middle ear|Middle ear tumor	http://purl.obolibrary.org/obo/HP_0100799	A tumor (abnormal growth of tissue) of the middle ear.	
MONDO:0007218	brachydactyly type A4	biolink:Disease	mondo	GARD:0000990|SCTID:715721005|MESH:C537097|ICD10:Q73.8|DOID:0110967|OMIM:112800|Orphanet:93394	gard_rare|ordo_malformation_syndrome	Temtamy type brachydactyly|brachydactyly Temtamy type|brachydactyly, type A4|brachydactyly, type A4; BDA4|Brachymesophalangy 2 and 5|BDA4|Brachymesophalangy II and V|brachymesophalangy II and V|brachydactyly, Temtamy type	http://purl.obolibrary.org/obo/MONDO_0007218	Brachydactyly type A4 (BDA4) is a congenital malformation characterized by brachymesophalangy affecting mainly the 2nd and the 5th digit.	DOID:0110967|ORPHA:93394|SNOMEDCT:715721005|MESH:C537097|http://identifiers.org/omim/112800
MONDO:0007219	brachydactyly type A6	biolink:Disease	mondo	Orphanet:93382|MESH:C537092|SCTID:715722003|UMLS:C1862130|ICD10:Q73.8|DOID:0110968|GARD:0000983|OMIM:112910	ordo_malformation_syndrome|gard_rare	brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities|BDA6|Osebold-Remondini syndrome|brachydactyly, type A6|Brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities|OSEBOLD-Remondini syndrome	http://purl.obolibrary.org/obo/MONDO_0007219	Brachydactyly A6 (BDA6) is characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant.	DOID:0110968|SNOMEDCT:715722003|ORPHA:93382|UMLS:C1862130|MESH:C537092|http://identifiers.org/omim/112910
MONDO:0007216	brachydactyly type A2	biolink:Disease	mondo	OMIM:112600|GARD:0000979|GARD:0000989|Orphanet:93396|SCTID:720569006|DOID:0110965|MESH:C537089|ICD10:Q73.8	gard_rare|ordo_malformation_syndrome	Brachymesophalangy 2|Mohr-Wriedt type brachydactyly|brachydactyly, Mohr-Wriedt type|brachydactyly, type A2|brachydactyly, type A2; BDA2|brachymesophalangy II|Brachymesophalangy type 2|BDA2	http://purl.obolibrary.org/obo/MONDO_0007216	Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger.	DOID:0110965|ORPHA:93396|MESH:C537089|SNOMEDCT:720569006|http://identifiers.org/omim/112600|UMLS:C1832702
MONDO:0022831	congenital heart disease ptosis hypodontia craniostosis	biolink:Disease	mondo	GARD:0001483	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022831		
MONDO:0009879	short stature due to growth hormone qualitative anomaly	biolink:Disease	mondo	Orphanet:629|OMIM:262650|ICD10:E23.0|GARD:0000408|MESH:C537505|UMLS:C1849779	ordo_clinical_subtype	pituitary dwarfism with normal immunoreactive Growth hormone and Low Somatomedin|KOWARSKI syndrome|Biodefective Growth hormone|Kowarski syndrome	http://purl.obolibrary.org/obo/MONDO_0009879	Short stature due to growth hormone qualitative anomaly is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive.	UMLS:C1849779|http://identifiers.org/omim/262650|MESH:C537505|ORPHA:629
MONDO:0007217	brachydactyly type A3	biolink:Disease	mondo	OMIM:112700|UMLS:C1862140|GARD:0000963|DOID:0110966|MESH:C537090	gard_rare	brachymesophalangy V|brachydactyly, type A3|brachydactyly, type A3; BDA3|brachydactyly-clinodactyly|BDA3|Brachymesophalangy 5	http://purl.obolibrary.org/obo/MONDO_0007217		DOID:0110966|UMLS:C1862140|MESH:C537090|http://identifiers.org/omim/112700
MONDO:0009878	pituitary hormone deficiency, combined, 2	biolink:Disease	mondo	OMIM:262600|UMLS:C0878683		CPHD2|PROP1 combined pituitary hormone deficiencies, genetic form|ateliotic dwarfism with hypogonadism|pituitary hormone deficiency, combined, type 2|combined pituitary hormone deficiencies, genetic form caused by mutation in PROP1|pituitary hormone deficiency, combined, 2|pituitary hormone deficiency, combined, 2; CPHD2|Hanhart dwarfism|pituitary dwarfism 3|panhypopituitarism	http://purl.obolibrary.org/obo/MONDO_0009878	Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the PROP1 gene.	UMLS:C0878683|http://identifiers.org/omim/262600
MONDO:0022832	congenital heart disease radio ulnar synostosis mental retardation	biolink:Disease	mondo	GARD:0001484	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022832		
HGNC:20788	RHBDF2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20788		
HP:0100790	Hernia	biolink:PhenotypicFeature	mondo	MSH:D006547|UMLS:C0019270|SNOMEDCT_US:52515009|SNOMEDCT_US:414403008		Hernias	http://purl.obolibrary.org/obo/HP_0100790		
MONDO:0009877	Laron syndrome	biolink:Disease	mondo	MESH:D046150|DOID:9521|NCIT:C130994|OMIM:262500|Orphanet:633|GARD:0006859|SCTID:38196001|ICD10:E34.3	ordo_disease	Laron dwarfism|growth hormone insensitivity syndrome|primary GH resistance|primary GH insensitivity|Laron syndrome|pituitary dwarfism II|Laron-type dwarfism|short stature due to growth hormone resistance|Laron-type isolated somatotropin defect|primary growth hormone insensitivity|Growth hormone receptor deficiency|primary growth hormone resistance|pituitary dwarfism 2|Laron type pituitary dwarfism I|GH receptor deficiency|complete growth hormone insensitivity	http://purl.obolibrary.org/obo/MONDO_0009877	Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.	MESH:D046150|NCIT:C130994|DOID:9521|SNOMEDCT:38196001|http://identifiers.org/omim/262500|ORPHA:633
MONDO:0007214	brachydactyly-preaxial hallux varus syndrome	biolink:Disease	mondo	DOID:0110962|UMLS:C1862162|ICD10:Q73.8|MESH:C537087|OMIM:112450|GARD:0000972|Orphanet:1278	ordo_malformation_syndrome	brachydactyly preaxial with hallux varus and thumb abduction|Christian brachydactyly|dominant preaxial brachydactyly with hallux varus and thumb abduction|brachydactyly, preaxial, with hallux varus and thumb abduction|preaxial brachydactyly with hallux varus and thumb abduction	http://purl.obolibrary.org/obo/MONDO_0007214	Preaxial brachydactyly-hallux varus syndrome is characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits.	DOID:0110962|UMLS:C1862162|MESH:C537087|ORPHA:1278|http://identifiers.org/omim/112450
MONDO:0044203	foveal hypoplasia	biolink:Disease	mondo	OMIMPS:136520		FVH	http://purl.obolibrary.org/obo/MONDO_0044203		
MONDO:0010844	epiphyseal dysplasia, multiple, 2	biolink:Disease	mondo	UMLS:C1838429|GARD:0009791|OMIM:600204|MESH:C535502|DOID:0070298	gard_rare	epiphyseal dysplasia, multiple, type 2|epiphyseal dysplasia, multiple, 2; EDM2|COL9A2 multiple epiphyseal dysplasia (disease)|epiphyseal dysplasia multiple 2|EDM2|multiple epiphyseal dysplasia 2|epiphyseal dysplasia, multiple, 2|multiple epiphyseal dysplasia (disease) caused by mutation in COL9A2	http://purl.obolibrary.org/obo/MONDO_0010844	Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A2 gene.	DOID:0070298|http://identifiers.org/omim/600204|UMLS:C1838429|MESH:C535502
GO:0042310	vasoconstriction	biolink:OntologyClass	mondo			negative regulation of blood vessel size	http://purl.obolibrary.org/obo/GO_0042310	A decrease in the diameter of blood vessels, especially arteries, due to constriction of smooth muscle cells that line the vessels, and usually causing an increase in blood pressure.	
MONDO:0007215	brachydactyly type A1	biolink:Disease	mondo	SCTID:715720006|UMLS:C1862151|MESH:C537088|Orphanet:93388|ICD10:Q73.8|GARD:0000978|DOID:0110964	gard_rare|ordo_malformation_syndrome	brachydactyly, type A1|brachydactyly, Farabee type|brachydactyly, type A1; BDA1|Farabee type brachydactyly|Farabee-type brachydactyly|brachydactyly Farabee type|BDA1	http://purl.obolibrary.org/obo/MONDO_0007215	Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges.	DOID:0110964|ORPHA:93388|SNOMEDCT:715720006|UMLS:C1862151|MESH:C537088|http://identifiers.org/omim/112500
MONDO:0009876	isolated growth hormone deficiency type IA	biolink:Disease	mondo	ICD10:E23.0|GARD:0007399|OMIM:262400|SCTID:237837007|DOID:0060873|MESH:C537404|Orphanet:231662|ICD9:259.4	ordo_clinical_subtype|gard_rare	Growth hormone deficiency, isolated autosomal recessive|isolated Growth hormone deficiency, type 1A|IGHD IA|Illig-type growth hormone deficiency|isolated growth hormone deficiency type IA|congenital isolated GH deficiency type IA|non-acquired isolated growth hormone deficiency|pituitary dwarfism 1|congenital IGHD|IGHD 1A|autosomal recessive isolated growth hormone deficiency|pituitary dwarfism I|congenital isolated growth hormone deficiency|isolated growth hormone deficiency, type IA; IGHD1A|congenital IGHD type IA|sexual ateleiotic dwarfism|ILLIG type growth hormone deficiency|Growth hormone deficiency, isolated, autosomal recessive|congenital isolated growth hormone deficiency type IA|IGHD1A|Illig-type Growth hormone deficiency|congenital isolated GH deficiency|isolated growth hormone deficiency, type IA|isolated growth hormone deficiency type 1A|primordial dwarfism	http://purl.obolibrary.org/obo/MONDO_0009876	An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material basis in null mutations in the GH1 gene on chromosome 17q23.3.	DOID:0060873|http://identifiers.org/omim/262400|ORPHA:231662|MESH:C537404|SNOMEDCT:237837007
MONDO:0044202	episodic kinesigenic dyskinesia	biolink:Disease	mondo	OMIMPS:128200		EKD	http://purl.obolibrary.org/obo/MONDO_0044202		
MONDO:0010843	dyslexia, susceptibility to, 2	biolink:Disease	mondo	OMIM:600202	predisposition	dyslexia, susceptibility to, 2; DYX2|dyslexia, susceptibility to, 2|reading disability, specific, 2|DYX2	http://purl.obolibrary.org/obo/MONDO_0010843		http://identifiers.org/omim/600202
MONDO:0010846	EXT3	biolink:Disease	mondo	UMLS:C1838420|OMIM:600209|MESH:C563975|GARD:0002206	gard_rare	exostoses, multiple, type 3|EXT3|exostoses, multiple, type III|exostoses, multiple, type III; EXT3	http://purl.obolibrary.org/obo/MONDO_0010846		MESH:C563975|http://identifiers.org/omim/600209|UMLS:C1838420
MONDO:0009875	achromatopsia 3	biolink:Disease	mondo	UMLS:C1849792|GARD:0009650|DOID:0110008|OMIM:262300		ACHM3|achromatopsia 3; ACHM3|ACHM1|rod monochromacy 1|CNGB3 achromatopsia|RMCH1 (formerly)|total colorblindness with myopia|Rod monochromatism 1 (formerly)|rod monochromatism 1|rod monochromatism 1, formerly|achromatopsia caused by mutation in CNGB3|achromatopsia type 3|achromatopsia 3|RMCH1|Pingelapese blindness|Rod monochromacy 1 (formerly)|achromatopsia with myopia|ACHM1 (formerly)|ACHM1, formerly|rod monochromacy 1, formerly	http://purl.obolibrary.org/obo/MONDO_0009875	Any achromatopsia in which the cause of the disease is a mutation in the CNGB3 gene.	UMLS:C1849792|http://identifiers.org/omim/262300|DOID:0110008
MONDO:0007212	brachydactyly-long thumb syndrome	biolink:Disease	mondo	Orphanet:2946|GARD:0000968|SCTID:733454004|UMLS:C1862169|MESH:C566204|OMIM:112430|ICD10:Q87.2	gard_rare|ordo_malformation_syndrome	brachydactyly, long thumb type|long-thumb brachydactyly syndrome|brachydactyly, long-thumb type|brachydactyly long thumb type	http://purl.obolibrary.org/obo/MONDO_0007212	Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981.	UMLS:C1862169|MESH:C566204|http://identifiers.org/omim/112430|ORPHA:2946|SNOMEDCT:733454004
MONDO:0044205	Shwachman-Diamond syndrome 2	biolink:Disease	mondo	OMIM:617941|UMLS:CN244554		SDS2|Shwachman-Diamond syndrome 2; SDS2	http://purl.obolibrary.org/obo/MONDO_0044205	Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia ({1:Stepensky et al., 2017}).nnFor a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM:260400).	http://identifiers.org/omim/617941|UMLS:CN244554
MONDO:0007213	Ballard syndrome	biolink:Disease	mondo	Orphanet:93395|SCTID:722298001|GARD:0000959|OMIM:112440|MESH:C537094|UMLS:C1862163|DOID:0110963|ICD10:Q73.8	ordo_malformation_syndrome	Pitt Williams brachydactyly|Ballard type brachydactyly|brachydactyly, Ballard type|brachydactyly combined B and E types|brachydactyly types B and E combined|Pitt-Williams brachydactyly|brachydactyly Ballard type|brachydactyly, combined B and E types	http://purl.obolibrary.org/obo/MONDO_0007213	Ballard syndrome is characterized by hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature.	DOID:0110963|ORPHA:93395|UMLS:C1862163|MESH:C537094|SNOMEDCT:722298001|http://identifiers.org/omim/112440
MONDO:0009874	Rabson-Mendenhall syndrome	biolink:Disease	mondo	ICD10:E13|UMLS:C0271695|NCIT:C131000|GARD:0000226|ICD9:259.8|Orphanet:769|OMIM:262190|SCTID:33559001	ordo_malformation_syndrome|gard_rare	pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities|Rabson-Mendenhall syndrome|Mendenhall syndrome	http://purl.obolibrary.org/obo/MONDO_0009874	Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes).	http://identifiers.org/omim/262190|UMLS:C0271695|MESH:D056731|ORPHA:769|NCIT:C131000|SNOMEDCT:33559001
MONDO:0044204	Shwachman-Diamond syndrome 1	biolink:Disease	mondo	OMIM:260400		pancreatic insufficiency and bone marrow dysfunction|lipomatosis of pancreas, congenital|Shwachman-Bodian syndrome|Shwachman-Diamond syndrome 1; SDS1|SDS1|Shwachman-Diamond syndrome	http://purl.obolibrary.org/obo/MONDO_0044204		http://identifiers.org/omim/260400
MONDO:0010845	obsolete macrothrombocytopenia and progressive sensorineural deafness	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0010845		
MONDO:0009873	pilodental dysplasia-refractive errors syndrome	biolink:Disease	mondo	UMLS:C1849805|OMIM:262020|Orphanet:2892|MESH:C535763|GARD:0000277	ordo_malformation_syndrome	Euhidrotic ectodermal dysplasia|PILODENTAL dysplasia with refractive errors|Kopysc-Barczyk-Krol syndrome|Trichodental dysplasia with hyperopia	http://purl.obolibrary.org/obo/MONDO_0009873	Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985.	http://identifiers.org/omim/262020|ORPHA:2892|MESH:C535763|UMLS:C1849805
MONDO:0010848	spinocerebellar ataxia type 5	biolink:Disease	mondo	Orphanet:98766|OMIM:600224|SCTID:719302009|UMLS:C0752123|ICD10:G11.2|DOID:0050882|GARD:0004953	ordo_disease	spinocerebellar ataxia type 5|spinocerebellar ataxia 5|SCA5|spinocerebellar ataxia 5; SCA5	http://purl.obolibrary.org/obo/MONDO_0010848	Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression.	SNOMEDCT:719302009|http://identifiers.org/omim/600224|UMLS:C0752123|ORPHA:98766|DOID:0050882
MONDO:0007210	Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay	biolink:Disease	mondo	UMLS:C1862171|MESH:C566206|OMIM:112370		Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay	http://purl.obolibrary.org/obo/MONDO_0007210		UMLS:C1862171|MESH:C566206|http://identifiers.org/omim/112370
MONDO:0007211	brachydactyly-arterial hypertension syndrome	biolink:Disease	mondo	DOID:0111247|OMIM:112410|GARD:0000967|Orphanet:1276|MESH:C537095|SCTID:720568003|UMLS:C1862170|ICD10:Q73.8	ordo_malformation_syndrome	brachydactyly type E, with short stature and hypertension|brachydactyly with hypertension|hypertension and brachydactyly syndrome; HTNB|brachydactyly type E with short stature and hypertension|brachydactyly, type E, with short stature and hypertension|hypertension and brachydactyly syndrome|Bilginturan syndrome|HTNB|Bilginturan brachydactyly	http://purl.obolibrary.org/obo/MONDO_0007211	Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50.	UMLS:C1862170|ORPHA:1276|MESH:C537095|http://identifiers.org/omim/112410|DOID:0111247|SNOMEDCT:720568003
MONDO:0010847	spinocerebellar ataxia type 4	biolink:Disease	mondo	Orphanet:98765|DOID:0050957|UMLS:C0752122|OMIM:600223|GARD:0009970|ICD10:G11.2|SCTID:715755008	ordo_disease	spinocerebellar ataxia autosomal dominant with sensory axonal neuropathy|spinocerebellar ataxia 4|spinocerebellar ataxia 4; SCA4|SCA4|spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy	http://purl.obolibrary.org/obo/MONDO_0010847	Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by ataxia with sensory neuropathy.	http://identifiers.org/omim/600223|UMLS:C0752122|SNOMEDCT:715755008|ORPHA:98765|DOID:0050957
MONDO:0009872	Bjornstad syndrome	biolink:Disease	mondo	UMLS:C0266006|EFO:0002779|DOID:0050677|MESH:C537633|Orphanet:123|GARD:0000022|OMIM:262000	gard_rare|ordo_disease	pili torti-sensorineural hearing loss|BJS|BJörnstad syndrome|PTND|deafness and pili torti, Bjornstad type|Bjornstad syndrome; BJS|PTD|deafness-pili torti-hypogonadism syndrome|pili torti and nerve deafness|Bjornstad syndrome	http://purl.obolibrary.org/obo/MONDO_0009872	Bjrnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti. Less than fifty cases have been reported so far. The hearing loss usually becomes evident very early in life, often in the first year. Pili torti, a condition in which the hair shaft is flattened and twisted, makes the hair very brittle and patients develop hair loss in the first two years of life. Bjrnstad syndrome is transmitted as an autosomal recessive condition. It is caused by mutations in the BCS1L gene. Mutations in this gene also cause GRACILE syndrome.	http://identifiers.org/omim/262000|UMLS:C0266006|ORPHA:123|MESH:C537633|DOID:0050677
MONDO:0009871	pili torti-developmental delay-neurological abnormalities syndrome	biolink:Disease	mondo	GARD:0004362|UMLS:C1849811|Orphanet:2891|MESH:C537398|OMIM:261990	ordo_malformation_syndrome	pili torti developmental delay neurological abnormalities|pili torti and developmental delay	http://purl.obolibrary.org/obo/MONDO_0009871	Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents.	MESH:C537398|ORPHA:2891|http://identifiers.org/omim/261990|UMLS:C1849811
MONDO:0044201	T+ B+ severe combined immunodeficiency	biolink:Disease	mondo	ICD10:D81.2|Orphanet:397802	ordo_group_of_disorders	T+B+ SCID|T-cell positive B-cell positive SCID	http://purl.obolibrary.org/obo/MONDO_0044201		ORPHA:397802
MONDO:0010849	palmoplantar keratoderma, Bothnian type	biolink:Disease	mondo	DOID:0111707|GARD:0001862|OMIM:600231		PPKB|palmoplantar keratoderma, Bothnian type|palmoplantar keratoderma, Bothnian type; PPKB	http://purl.obolibrary.org/obo/MONDO_0010849		http://identifiers.org/omim/600231|DOID:0111707
MONDO:0044200	T-B+ severe combined immunodeficiency	biolink:Disease	mondo	Orphanet:317416|ICD10:D81.2	ordo_group_of_disorders	T-B+ SCID|T-cell negative B-cell positive SCID	http://purl.obolibrary.org/obo/MONDO_0044200	T-B+ severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive.	ORPHA:317416
MONDO:0009870	pili torti (disease)	biolink:Disease	mondo	SCTID:17170005|OMIM:261900|GARD:0004361|MESH:C562485|Orphanet:2889|ICD10:Q84.1|HP:0003777	ordo_disease	twisted hair|coarse, dry, lusterless hair which breaks off easily|pili torti, early-onset|pili torti, Ronchese type|pili torti	http://purl.obolibrary.org/obo/MONDO_0009870	Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome.	ORPHA:2889|http://identifiers.org/omim/261900|UMLS:C0263491|SNOMEDCT:17170005|MESH:C562485
CHEBI:18407	hydrogen cyanide	biolink:ChemicalSubstance	mondo			Cyanwasserstoff|HCN|methanenitrile|hydrocyanic acid|Blausaeure|[CHN]|formonitrile|hydrogen(nitridocarbonate)|Hydrogen cyanide|hydrogen cyanide|hydridonitridocarbon	http://purl.obolibrary.org/obo/CHEBI_18407	A one-carbon compound consisting of a methine group triple bonded to a nitrogen atom	
HGNC:29110	KIAA0753	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29110		
CHEBI:18405	pyridoxal 5'-phosphate	biolink:ChemicalSubstance	mondo			Pyridoxal phosphate|3-hydroxy-5-(hydroxymethyl)-2-methylisonicotinaldehyde 5-phosphate|PLP|Phosphoric acid mono-(4-formyl-5-hydroxy-6-methyl-pyridin-3-ylmethyl) ester|pyridoxal 5'-(dihydrogen phosphate)|(4-formyl-5-hydroxy-6-methylpyridin-3-yl)methyl dihydrogen phosphate|Pyridoxal 5'-phosphate|Pyridoxal 5-phosphate|pyridoxal 5-monophosphoric acid ester|codecarboxylase|3-hydroxy-2-methyl-5-[(phosphonooxy)methyl]-4-pyridinecarboxaldehyde|PYRIDOXAL-5'-PHOSPHATE	http://purl.obolibrary.org/obo/CHEBI_18405	The monophosphate ester obtained by condensation of phosphoric acid with the primary hydroxy group of pyridoxal.	
MONDO:0010851	Lowry-MacLean syndrome	biolink:Disease	mondo	ICD10:Q87.8|OMIM:600252|MESH:C537037|SCTID:721974000|UMLS:C0796020|GARD:0003300|Orphanet:2409	ordo_malformation_syndrome	Lowry-MacLean syndrome|intellectual disability, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure|mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure|Lowry MacLean syndrome	http://purl.obolibrary.org/obo/MONDO_0010851	Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations.	MESH:C537037|http://identifiers.org/omim/600252|ORPHA:2409|SNOMEDCT:721974000|UMLS:C0796020
MONDO:0010850	Tessier number 4 facial cleft	biolink:Disease	mondo	Orphanet:141258|OMIM:600251|ICD10:Q18.8	ordo_morphological_anomaly	facial clefting, oblique, 1|OBLFC1|oculomaxillofacial dysplasia with oblique Facial clefts|facial clefting, oblique, 1; OBLFC1|facial clefting, oblique, type 1	http://purl.obolibrary.org/obo/MONDO_0010850		http://identifiers.org/omim/600251|ORPHA:141258
MONDO:0010853	Helicobacter pylori infection, susceptibility to	biolink:Disease	mondo	UMLS:C1838332|OMIM:600263	predisposition	Helicobacter pylori infection, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0010853		http://identifiers.org/omim/600263|UMLS:C1838332
MONDO:0010852	chromosome 8Q12.1-q21.2 deletion syndrome	biolink:Disease	mondo	OMIM:600257|UMLS:C1838346|GARD:0010002|MESH:C536574		Branchio-Oto-renal Duane hydrocephalus contiguous gene syndrome|chromosome 8Q12.1-q21.2 deletion syndrome|bor-Duane hydrocephalus contiguous Gene syndrome	http://purl.obolibrary.org/obo/MONDO_0010852		http://identifiers.org/omim/600257|MESH:C536574|UMLS:C1838346
MONDO:0022822	congenital cardiovascular shunt	biolink:Disease	mondo	GARD:0006154	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022822		
HGNC:20778	TUBB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20778		
CHEBI:79389	monovalent inorganic anion	biolink:ChemicalSubstance	mondo			monovalent inorganic anions	http://purl.obolibrary.org/obo/CHEBI_79389	Any inorganic anion with a valency of one.	
MONDO:0022823	congenital contractures	biolink:Disease	mondo	GARD:0001477	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022823		
MONDO:0022824	congenital craniosynostosis maternal hyperthyroiditis	biolink:Disease	mondo	GARD:0001478	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022824		
CHEBI:79388	divalent inorganic anion	biolink:ChemicalSubstance	mondo			divalent inorganic anions	http://purl.obolibrary.org/obo/CHEBI_79388	Any inorganic anion with a valency of two.	
MONDO:0022825	congenital cystic eye	biolink:Disease	mondo	GARD:0010617|Orphanet:519384	gard_rare|ordo_morphological_anomaly	CCE	http://purl.obolibrary.org/obo/MONDO_0022825		ORPHA:519384
CHEBI:79387	trivalent inorganic anion	biolink:ChemicalSubstance	mondo			trivalent inorganic anions	http://purl.obolibrary.org/obo/CHEBI_79387	Any inorganic anion with a valency of three.	
MONDO:0022826	congenital cystic eye multiple ocular and intracranial anomalies	biolink:Disease	mondo	GARD:0001479	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022826		
MONDO:0019250	inborn disorder of biogenic amine metabolism and transport	biolink:Disease	mondo	Orphanet:79214|UMLS:CN227606	ordo_group_of_disorders	disorder of biogenic amine metabolism and transport	http://purl.obolibrary.org/obo/MONDO_0019250		ORPHA:79214|UMLS:CN227606
MONDO:0019252	other metabolic disease with skin involvement	biolink:Disease	mondo	Orphanet:79217|UMLS:CN205838	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019252		ORPHA:79217|UMLS:CN205838
MONDO:0019251	oligosaccharidosis	biolink:Disease	mondo	ICD10:E77.1|Orphanet:79215	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019251		ORPHA:79215
MONDO:0007269	dilated cardiomyopathy 1A	biolink:Disease	mondo	UMLS:C1449563|GARD:0001104|ICD10:I42.0|DOID:0110425|Orphanet:300751|SCTID:766883006|OMIM:115200	ordo_disease|gard_rare	CMD1A|cardiomyopathy, familial idiopathic|cardiomyopathy, dilated, with conduction defect 1|LMNA familial isolated dilated cardiomyopathy|cardiomyopathy, idiopathic dilated|CDCD1|cardiomyopathy, dilated, 1A; CMD1A|cardiomyopathy dilated with conduction defect type 1|cardiomyopathy, congestive|cardiomyopathy, dilated, type 1A|familial isolated dilated cardiomyopathy caused by mutation in LMNA|familial dilated cardiomyopathy with conduction defect due to LMNA mutation|dilated cardiomyopathy type 1A|cardiomyopathy, dilated, 1A|dilated cardiomyopathy with conduction defect 1	http://purl.obolibrary.org/obo/MONDO_0007269	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase.	UMLS:C1449563|SNOMEDCT:766883006|DOID:0110425|ORPHA:300751|http://identifiers.org/omim/115200
GO:0042321	negative regulation of circadian sleep/wake cycle, sleep	biolink:OntologyClass	mondo			down-regulation of circadian sleep/wake cycle, sleep|down regulation of circadian sleep/wake cycle, sleep|negative regulation of sleep|inhibition of circadian sleep/wake cycle, sleep|downregulation of circadian sleep/wake cycle, sleep	http://purl.obolibrary.org/obo/GO_0042321	Any process that stops, prevents or reduces the duration or quality of sleep, a readily reversible state of reduced awareness and metabolic activity that occurs periodically in many animals.	
MONDO:0020247	congenital vitreoretinal dysplasia	biolink:Disease	mondo	ICD10:Q14.1|SCTID:449866003|Orphanet:98669|ICD9:743.56	ordo_group_of_disorders	vitreoretinal dysplasia	http://purl.obolibrary.org/obo/MONDO_0020247		SNOMEDCT:449866003|ORPHA:98669
GO:0042320	regulation of circadian sleep/wake cycle, REM sleep	biolink:OntologyClass	mondo			regulation of REM sleep	http://purl.obolibrary.org/obo/GO_0042320	Any process that modulates the frequency, rate or extent of rapid eye movement (REM) sleep.	
MONDO:0020246	inherited vitreoretinopathy	biolink:Disease	mondo	HP:0007773|UMLS:C1850109|Orphanet:98668	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020246		UMLS:C1850109|ORPHA:98668
MONDO:0020245	disease predisposing to age-related macular degeneration	biolink:Disease	mondo	UMLS:CN207066|Orphanet:98667	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020245		ORPHA:98667|UMLS:CN207066
MONDO:0007267	hypertrophic cardiomyopathy 3	biolink:Disease	mondo	OMIM:115196|DOID:0110309|UMLS:C1861863|MESH:C566170		cardiomyopathy, familial hypertrophic, type 3|TPM1 hypertrophic cardiomyopathy|cardiomyopathy familial hypertrophic 3|CMH3|cardiomyopathy, familial hypertrophic, 3|cardiomyopathy, familial hypertrophic, 3; CMH3|hypertrophic cardiomyopathy caused by mutation in TPM1|hypertrophic cardiomyopathy type 3	http://purl.obolibrary.org/obo/MONDO_0007267	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene.	MESH:C566170|UMLS:C1861863|DOID:0110309|http://identifiers.org/omim/115196
MONDO:0007268	hypertrophic cardiomyopathy 4	biolink:Disease	mondo	MESH:C566169|UMLS:C1861862|NCIT:C133725|OMIM:115197|DOID:0110310		cardiomyopathy, familial hypertrophic, type 4|hypertrophic cardiomyopathy caused by mutation in MYBPC3|CMH4|familial hypertrophic cardiomyopathy type 4|hypertrophic cardiomyopathy type 4|cardiomyopathy, familial hypertrophic, 4|cardiomyopathy, familial hypertrophic, 4; CMH4|MYBPC3 hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, 4, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0007268	An autosomal dominant condition caused by mutation(s) in the MYBPC3 gene, encoding MYBPC3 protein. It is characterized by severe neonatal hypertrophic cardiomyopathy.	MESH:C566169|UMLS:C1861862|NCIT:C133725|DOID:0110310|http://identifiers.org/omim/115197
GO:0042322	negative regulation of circadian sleep/wake cycle, REM sleep	biolink:OntologyClass	mondo			inhibition of circadian sleep/wake cycle, REM sleep|negative regulation of REM sleep|downregulation of circadian sleep/wake cycle, REM sleep|down-regulation of circadian sleep/wake cycle, REM sleep|down regulation of circadian sleep/wake cycle, REM sleep	http://purl.obolibrary.org/obo/GO_0042322	Any process that stops, prevents or reduces the duration or quality of rapid eye movement (REM) sleep.	
MONDO:0020244	unclassified primitive or secondary maculopathy	biolink:Disease	mondo	Orphanet:98666	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020244		ORPHA:98666
MONDO:0007265	cardiofaciocutaneous syndrome 1	biolink:Disease	mondo	UMLS:CN029449|OMIM:115150|DOID:0111460		CFC1|Cfcs|cardiofaciocutaneous syndrome 1|CFC syndrome|cardiofaciocutaneous syndrome type 1|cardiofaciocutaneous syndrome caused by mutation in BRAF|cardiofaciocutaneous syndrome 1; CFC1|BRAF cardiofaciocutaneous syndrome	http://purl.obolibrary.org/obo/MONDO_0007265	Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the BRAF gene.	DOID:0111460|http://identifiers.org/omim/115150|UMLS:CN029449
MONDO:0020243	obsolete colobomatous and areolar dystrophy	biolink:Disease	mondo	Orphanet:98665	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020243		ORPHA:98665
MONDO:0007266	hypertrophic cardiomyopathy 2	biolink:Disease	mondo	DOID:0110308|UMLS:C1861864|OMIM:115195|MESH:C566171|NCIT:C142892		cardiomyopathy, familial hypertrophic, type 2|TNNT2 hypertrophic cardiomyopathy|cardiomyopathy familial hypertrophic 2|hypertrophic cardiomyopathy caused by mutation in TNNT2|cardiomyopathy, familial hypertrophic, 2|cardiomyopathy, familial hypertrophic, 2; CMH2|CMH2|familial hypertrophic cardiomyopathy type 2|hypertrophic cardiomyopathy type 2	http://purl.obolibrary.org/obo/MONDO_0007266	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.	MESH:C566171|UMLS:C1861864|DOID:0110308|NCIT:C142892|http://identifiers.org/omim/115195
MONDO:0020242	genetic macular dystrophy	biolink:Disease	mondo	NCIT:C140264|SCTID:276436007|ICD10:H35.5|DC:0000263|Orphanet:98664	ordo_group_of_disorders	genetic macular dystrophy (disease)|genetic macular dystrophy	http://purl.obolibrary.org/obo/MONDO_0020242	Macular dystrophy that is related to a change in a gene.	NCIT:C140264|SNOMEDCT:276436007|ORPHA:98664
MONDO:0020241	unclassified familial retinal dystrophy	biolink:Disease	mondo	Orphanet:98662|UMLS:CN227835	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020241		UMLS:CN227835|ORPHA:98662
MONDO:0007263	cardiac rhythm disease	biolink:Disease	mondo	EFO:0004269|SCTID:698247007|ICD9:427.9|NCIT:C2881		arrhythmia	http://purl.obolibrary.org/obo/MONDO_0007263	Any variation from the normal rate or rhythm (which may include the origin of the impulse and/or its subsequent propagation) in the heart.	SNOMEDCT:698247007|NCIT:C2881
MONDO:0020240	syndromic retinitis pigmentosa	biolink:Disease	mondo	Orphanet:98661|UMLS:CN227834	ordo_group_of_disorders	syndromic retinitis pigmentosa|syndrome associated with retinitis pigmentosa|syndrome associated with retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0020240	A retinitis pigmentosa that is part of a larger syndrome.	UMLS:CN227834|ORPHA:98661
MONDO:0007264	sudden cardiac arrest	biolink:Disease	mondo	SCTID:95281009|EFO:0004278|OMIM:115080|NCIT:C78245		cardiac conduction Disorder|sudden cardiac death|heart conduction disorder|disorder of cardiac conduction|cardiac conduction defect|conduction disorder|familial sudden death	http://purl.obolibrary.org/obo/MONDO_0007264	An unexpected natural death from a cardiac cause within a short time period from the onset of symptoms.	SNOMEDCT:95281009|NCIT:C50911|http://identifiers.org/omim/115080|NCIT:C78245
MONDO:0007261	Carabelli anomaly of maxillary molar teeth	biolink:Disease	mondo	MESH:C566175|UMLS:C1861897|OMIM:114700		Carabelli anomaly of maxillary molar teeth	http://purl.obolibrary.org/obo/MONDO_0007261		UMLS:C1861897|http://identifiers.org/omim/114700|MESH:C566175
MONDO:0007262	obsolete carcinoid syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0007262		
MONDO:0007260	Car factor deficiency	biolink:Disease	mondo	OMIM:114650|UMLS:C1861898|MESH:C566176	n_of_one	Car factor deficiency	http://purl.obolibrary.org/obo/MONDO_0007260		http://identifiers.org/omim/114650|MESH:C566176|UMLS:C1861898
GO:0042325	regulation of phosphorylation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0042325	Any process that modulates the frequency, rate or extent of addition of phosphate groups into a molecule.	
MONDO:0020239	obsolete color-vision disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0020239		
MONDO:0020238	inherited vitreous-retinal disease	biolink:Disease	mondo	Orphanet:98657|UMLS:CN207063	ordo_group_of_disorders	genetic vitreous-retinal disease|genetic vitreoretinal disease	http://purl.obolibrary.org/obo/MONDO_0020238		ORPHA:98657|UMLS:CN207063
GO:0042327	positive regulation of phosphorylation	biolink:OntologyClass	mondo			up regulation of phosphorylation|activation of phosphorylation|stimulation of phosphorylation|upregulation of phosphorylation|up-regulation of phosphorylation	http://purl.obolibrary.org/obo/GO_0042327	Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to a molecule.	
MONDO:0020237	lens shape anomaly	biolink:Disease	mondo	Orphanet:98655	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020237		ORPHA:98655
GO:0042326	negative regulation of phosphorylation	biolink:OntologyClass	mondo			down-regulation of phosphorylation|down regulation of phosphorylation|downregulation of phosphorylation|inhibition of phosphorylation	http://purl.obolibrary.org/obo/GO_0042326	Any process that stops, prevents or decreases the rate of addition of phosphate groups to a molecule.	
HGNC:17109	ADAMTS17	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17109		
MONDO:0019258	mild phenylketonuria	biolink:Disease	mondo	GARD:0010324|ICD10:E70.1|Orphanet:79253	ordo_clinical_subtype|gard_rare	variant PKU|variant phenylketonuria|mild PKU|mPKU	http://purl.obolibrary.org/obo/MONDO_0019258	Mild phenylketonuria is a rare form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity.	ORPHA:79253
MONDO:0022899	crawfurd syndrome	biolink:Disease	mondo	GARD:0001607	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022899		
HGNC:17104	CDON	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17104		
MONDO:0019257	hemochromatosis type 2	biolink:Disease	mondo	SCTID:50855007|Orphanet:79230|UMLS:CN205842|GARD:0010092|ICD10:E83.1|MESH:C537247|DOID:0111034	ordo_disease	hemochromatosis juvenile|iron overload disease juvenile|HFE2|JHH|juvenile hemochromatosis	http://purl.obolibrary.org/obo/MONDO_0019257	Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin.	MESH:C537247|DOID:0111034|ORPHA:79230|SNOMEDCT:50855007|UMLS:CN205842
MONDO:0019259	classic phenylketonuria	biolink:Disease	mondo	ICD10:E70.0|MedDRA:10034875|Orphanet:79254	ordo_clinical_subtype	classic PKU	http://purl.obolibrary.org/obo/MONDO_0019259	Classical phenylketonuria is a severe form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.	UMLS:C0751434|ORPHA:79254|MEDDRA:10034875
HGNC:20748	FANCL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20748		
MONDO:0019254	inborn disorder of purine or pyrimidine metabolism	biolink:Disease	mondo	ICD10:E79.8|ICD10:E79.1|ICD9:277.2|ICD10:E79.0|UMLS:C0034139|DOID:653|Orphanet:79224|MESH:D011686|MedDRA:10037546|ICD10:E79.9	ordo_group_of_disorders	inborn errors of purine-pyrimidine metabolism|inborn purine-pyrimidine metabolic disorder|purine-pyrimidine metabolic disorder|disorder of purine or pyrimidine metabolism	http://purl.obolibrary.org/obo/MONDO_0019254		DOID:653|ORPHA:79224|MESH:D011686|UMLS:C0034139|MEDDRA:10037546
MONDO:0019253	metabolic disease involving other neurotransmitter deficiency	biolink:Disease	mondo	Orphanet:79219|UMLS:CN205839	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019253		ORPHA:79219|UMLS:CN205839
MONDO:0019256	sterol metabolism disorder	biolink:Disease	mondo	Orphanet:79226|UMLS:CN227607	ordo_group_of_disorders	rare inborn error of sterol metabolic process|inborn sterol metabolic process disorder|rare inborn error of sterol metabolic process|inborn error of sterol metabolic process	http://purl.obolibrary.org/obo/MONDO_0019256	An acquired metabolic disease that is has its basis in the disruption of sterol metabolic process.	ORPHA:79226|UMLS:CN227607
MONDO:0019255	sphingolipidosis	biolink:Disease	mondo	NCIT:C117254|DOID:1927|ICD10:E75.0|Orphanet:79225|SCTID:238028008|ICD10:E75.2|ICD10:E75.3|UMLS:C0037899|ICD10:E75.1|MESH:D013106|GARD:0007672	gard_rare|ordo_group_of_disorders	sphingolipidoses|sphingolipidosis, NOS	http://purl.obolibrary.org/obo/MONDO_0019255	An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease.	ORPHA:79225|UMLS:C0037899|DOID:1927|SNOMEDCT:238028008|NCIT:C117254|MESH:D013106
MONDO:0022891	craniosynostosis Maroteaux Fonfria type	biolink:Disease	mondo	GARD:0001598	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022891		
MONDO:0022892	craniosynostosis alopecia brain defect	biolink:Disease	mondo	GARD:0001586	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022892		
HGNC:20761	ZFYVE26	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20761		
MONDO:0019241	inborn disorder of the gamma-glutamyl cycle	biolink:Disease	mondo	UMLS:C0268517|SCTID:9128006|Orphanet:79196|ICD10:E72.8	ordo_group_of_disorders	disorder of the gamma-glutamyl cycle|disorder of gamma-glutamyl cycle	http://purl.obolibrary.org/obo/MONDO_0019241		ORPHA:79196|UMLS:C0268517|SNOMEDCT:9128006
MONDO:0022893	craniosynostosis arthrogryposis cleft palate	biolink:Disease	mondo	GARD:0001587	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022893		
MONDO:0019240	sterol biosynthesis disorder	biolink:Disease	mondo	UMLS:CN227602|Orphanet:79195	ordo_group_of_disorders	inborn sterol biosynthetic process disorder|rare inborn error of sterol biosynthetic process|inborn error of sterol biosynthetic process|rare inborn error of sterol biosynthetic process	http://purl.obolibrary.org/obo/MONDO_0019240	An acquired metabolic disease that is has its basis in the disruption of sterol biosynthetic process.	ORPHA:79195|UMLS:CN227602
MONDO:0022894	craniosynostosis autosomal dominant	biolink:Disease	mondo	GARD:0001588	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022894		
MONDO:0022895	craniosynostosis cleft lip palate arthrogryposis	biolink:Disease	mondo	GARD:0001590	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022895		
MONDO:0022896	craniosynostosis contractures cleft	biolink:Disease	mondo	GARD:0001591	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022896		
MONDO:0022897	craniosynostosis exostoses nevus epibulbar dermoid	biolink:Disease	mondo	GARD:0001593	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022897		
HGNC:20766	TUBA1A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20766		
MONDO:0022898	craniosynostosis mental retardation heart defects	biolink:Disease	mondo	GARD:0001600	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022898		
MONDO:0020236	lens position anomaly	biolink:Disease	mondo	NCIT:C125484|Orphanet:98653|ICD10:Q12.1|HP:0001083	ordo_group_of_disorders	ectopia lentis	http://purl.obolibrary.org/obo/MONDO_0020236	Partial or complete displacement of the crystalline lens from its normal position in the eye.	NCIT:C125484|ORPHA:98653
MONDO:0020235	lens size anomaly	biolink:Disease	mondo	Orphanet:98652	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020235		ORPHA:98652
MONDO:0007278	cataract 32 multiple types	biolink:Disease	mondo	OMIM:115650|DOID:0110227|ICD10:Q12.0		cataract, anterior polar, 1|cataract, anterior polar|cataract, posterior polar, 5|anterior polar cataract 1|posterior polar cataract 5|CTPP5|cataract 32, multiple types|CTRCT32|cataract 32, multiple types; CTRCT32|CTAA1	http://purl.obolibrary.org/obo/MONDO_0007278	A cataract that has material basis in mutation in the region 14q22-q23.	DOID:0110227|http://identifiers.org/omim/115650
MONDO:0020234	obsolete craniofacial anomaly with cataract	biolink:Disease	mondo	Orphanet:98650	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020234		ORPHA:98650
MONDO:0020233	dentocutaneous disease with cataract	biolink:Disease	mondo	Orphanet:98649|UMLS:CN207061	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020233		ORPHA:98649|UMLS:CN207061
MONDO:0007279	cataract 7	biolink:Disease	mondo	DOID:0110260|ICD10:Q12.0|OMIM:115660		cataract type 7|cataract, congenital, cerulean type, 1|CTRCT7|cataract 7|congenital cerulean type cataract 1|CCA1|cataract 7; CTRCT7|cerulean type cataract 7|cataract 7, cerulean type	http://purl.obolibrary.org/obo/MONDO_0007279	A cataract that has material basis in variation in the region 17q24.	DOID:0110260|http://identifiers.org/omim/115660
MONDO:0007276	cat-eye syndrome	biolink:Disease	mondo	UMLS:C0265493|GARD:0000026|OMIM:115470|MESH:C535918|SCTID:26445008|NCIT:C75477|Orphanet:195|ICD10:Q92.8	gard_rare|ordo_malformation_syndrome	chromosome 22 partial tetrasomy|CAT eye syndrome; CES|Inv dup(22)(q11)|CES|Schmid-Fraccaro syndrome|CAT eye syndrome	http://purl.obolibrary.org/obo/MONDO_0007276	Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal.	UMLS:C0265493|NCIT:C75477|SNOMEDCT:26445008|MESH:C535918|http://identifiers.org/omim/115470|ORPHA:195
MONDO:0020232	musculoskeletal disease with cataract	biolink:Disease	mondo	Orphanet:98648|UMLS:CN207060	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020232		UMLS:CN207060|ORPHA:98648
MONDO:0007277	cataract-aberrant oral frenula-growth delay syndrome	biolink:Disease	mondo	ICD10:Q87.8|Orphanet:1373|GARD:0005554|OMIM:115645|SCTID:715988005|MESH:C536691	ordo_malformation_syndrome	Wellesley Carmen French syndrome|cataract, aberrant oral frenula, and growth retardation|Wellesley-Carman-French syndrome|cataracts, aberrant oral frenula, and growth retardation	http://purl.obolibrary.org/obo/MONDO_0007277	Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait.	MESH:C536691|SNOMEDCT:715988005|http://identifiers.org/omim/115645|ORPHA:1373
MONDO:0020231	cardiac disease with cataract	biolink:Disease	mondo	UMLS:CN207059|Orphanet:98647	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020231		ORPHA:98647|UMLS:CN207059
MONDO:0007274	carpal displacement	biolink:Disease	mondo	UMLS:C1861847|OMIM:115400		carpal displacement|carpal bossing	http://purl.obolibrary.org/obo/MONDO_0007274		http://identifiers.org/omim/115400|UMLS:C1861847
MONDO:0020230	renal disease with cataract	biolink:Disease	mondo	UMLS:CN207058|Orphanet:98646	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020230		UMLS:CN207058|ORPHA:98646
GO:0042330	taxis	biolink:OntologyClass	mondo			directed movement in response to stimulus	http://purl.obolibrary.org/obo/GO_0042330	The directed movement of a motile cell or organism in response to an external stimulus.	
MONDO:0007275	carpal tunnel syndrome	biolink:Disease	mondo	UMLS:C0007286|MESH:D002349|SCTID:57406009|COHD:380094|ICD9:354.0|OMIMPS:115430|EFO:0004143|ICD10:G56.00|DOID:12169|NCIT:C34450|ICD10:G56.0		median nerve entrapment|CTS|amyotrophy, thenar, of carpal origin|carpal tunnel syndrome|carpal tunnel median neuropathy|CTS - carpal tunnel syndrome	http://purl.obolibrary.org/obo/MONDO_0007275	Entrapment of the median nerve in the wrist that is characterized by numbness, tingling and painful movement.	UMLS:C0007286|DOID:12169|SNOMEDCT:57406009|MESH:D002349|NCIT:C34450
MONDO:0022890	craniosynostosis Fontaine type	biolink:Disease	mondo	GARD:0001595	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022890		
MONDO:0007272	hereditary hypercarotenemia and vitamin A deficiency	biolink:Disease	mondo	MESH:C567296|OMIM:115300|Orphanet:199285|ICD10:E50.8|SCTID:726079008	ordo_disease	HCVAD|hypercarotenemia and vitamin A deficiency, autosomal dominant|Carotenoids, plasma level of, quantitative trait locus 1|hypercarotenemia and vitamin A deficiency, autosomal dominant; HCVAD	http://purl.obolibrary.org/obo/MONDO_0007272	Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date.	ORPHA:199285|http://identifiers.org/omim/115300|SNOMEDCT:726079008|MESH:C567296
MONDO:0007273	paragangliomas 4	biolink:Disease	mondo	OMIM:115310|GARD:0010546|UMLS:C1861848	gard_rare	SDHB-related hereditary paraganglioma-pheochromocytoma syndrome|paragangliomas, hereditary extraadrenal|paragangliomas type 4|pheochromocytoma, familial extraadrenal|paraganglioma, familial malignant|paragangliomas 4|SDHB paraganglioma|pheochromocytoma, extraadrenal and cervical paraganglioma|pheochromocytoma, extraadrenal, and cervical paraganglioma|PGL4|paragangliomas 4; PGL4|paraganglioma caused by mutation in SDHB|carotid body tumors and multiple extraadrenal Pheochromocytomas	http://purl.obolibrary.org/obo/MONDO_0007273	Any paraganglioma in which the cause of the disease is a mutation in the SDHB gene.	http://identifiers.org/omim/115310|UMLS:C1861848
MONDO:0007270	cardiomyopathy, familial restrictive, 1	biolink:Disease	mondo	MESH:C566168|OMIM:115210|DOID:0111425|UMLS:C1861861		RCM1|cardiomyopathy, familial restrictive, 1; RCM1|familial isolated restrictive cardiomyopathy caused by mutation in TNNI3|cardiomyopathy, familial restrictive, type 1|Rcm|TNNI3 familial isolated restrictive cardiomyopathy|cardiomyopathy, familial restrictive, 1	http://purl.obolibrary.org/obo/MONDO_0007270	Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene.	http://identifiers.org/omim/115210|MESH:C566168|UMLS:C1861861|DOID:0111425
MONDO:0007271	familial cutaneous collagenoma	biolink:Disease	mondo	OMIM:115250|MESH:C562925|GARD:0009799|ICD10:L94.8|Orphanet:53296|UMLS:C0406817|SCTID:239139000	ordo_disease|gard_rare	collagenoma, familial cutaneous	http://purl.obolibrary.org/obo/MONDO_0007271	Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission.	ORPHA:53296|SNOMEDCT:239139000|http://identifiers.org/omim/115250|MESH:C562925|UMLS:C0406817
MONDO:0020229	cerebral disease with cataract	biolink:Disease	mondo	Orphanet:98645|UMLS:CN207057	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020229		UMLS:CN207057|ORPHA:98645
MONDO:0020228	cataract associated with a metabolic disease	biolink:Disease	mondo	Orphanet:98644|UMLS:CN207056	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020228		UMLS:CN207056|ORPHA:98644
MONDO:0020227	systemic disease with cataract	biolink:Disease	mondo	Orphanet:98643|UMLS:C0339369	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020227		UMLS:C0339369|ORPHA:98643
MONDO:0020226	chromosomal anomaly with cataract	biolink:Disease	mondo	Orphanet:98642	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020226		ORPHA:98642
MONDO:0022888	craniostenosis cataract	biolink:Disease	mondo	GARD:0001584	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022888		
MONDO:0019247	obsolete combined hyperlipidemia (including acquired and inherited)	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019247		
MONDO:0019246	inborn disorder of lysosomal amino acid transport	biolink:Disease	mondo	UMLS:CN227605|Orphanet:79207	ordo_group_of_disorders	disorder of lysosomal amino acid transport	http://purl.obolibrary.org/obo/MONDO_0019246		UMLS:CN227605|ORPHA:79207
MONDO:0022889	craniostenosis with congenital heart disease mental retardation	biolink:Disease	mondo	GARD:0001585	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022889		
MONDO:0019249	mucopolysaccharidosis	biolink:Disease	mondo	OMIMPS:607014|MedDRA:10028093|GARD:0007065|MESH:D009083|ICD9:277.5|SCTID:11380006|COHD:433446|NCIT:C61259|ICD10:E76.1|DOID:12798|Orphanet:79213|UMLS:C0026703|ICD10:E76.2|ICD10:E76.3|ICD10:E76.0	gard_rare|ordo_group_of_disorders	mucopolysaccharidosis|MPS|mucopolysaccharidoses	http://purl.obolibrary.org/obo/MONDO_0019249	A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.	MESH:D009083|UMLS:C0026703|SNOMEDCT:11380006|NCIT:C61259|ORPHA:79213|MEDDRA:10028093|DOID:12798
MONDO:0019248	mucolipidosis	biolink:Disease	mondo	MESH:D009081|UMLS:C0026697|DC:0000289|DOID:0080488|SCTID:70528007|NCIT:C61267|Orphanet:79212	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019248	A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations.	MESH:D009081|DOID:0080488|UMLS:C0026697|NCIT:C61267|ORPHA:79212|SNOMEDCT:70528007
HGNC:17116	CATSPER1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17116		
MONDO:0019243	inborn disorder of energy metabolism	biolink:Disease	mondo	Orphanet:79200|UMLS:CN227604	ordo_group_of_disorders	inborn error of generation of precursor metabolites and energy|rare inborn error of generation of precursor metabolites and energy|disorder of energy metabolism|inborn generation of precursor metabolites and energy disorder|rare inborn error of generation of precursor metabolites and energy	http://purl.obolibrary.org/obo/MONDO_0019243	An acquired metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy.	ORPHA:79200|UMLS:CN227604
MONDO:0019242	inborn disorder of branched-chain amino acid metabolism	biolink:Disease	mondo	ICD10:E71.0|UMLS:C0342712|ICD10:E71.2|ICD10:E71.1|SCTID:116020001|Orphanet:79197	ordo_group_of_disorders	rare inborn error of branched-chain amino acid metabolic process|disorder of branched-chain amino acid metabolism|disorder of branched chain amino acid metabolism|branched chain amino acid metabolism disorder|rare inborn error of branched-chain amino acid metabolic process|inborn branched-chain amino acid metabolic process disorder|inborn error of branched-chain amino acid metabolic process	http://purl.obolibrary.org/obo/MONDO_0019242	An acquired metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process.	ORPHA:79197|UMLS:C0342712|SNOMEDCT:116020001
HGNC:17110	ADAMTS18	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17110		
MONDO:0019245	lysosomal lipid storage disorder	biolink:Disease	mondo	SCTID:10741005|ICD9:272.7|UMLS:CN205834|ICD10:E75.5|ICD9:272.8|ICD10:E75.6|Orphanet:79204|DOID:9455|MESH:D008064	ordo_group_of_disorders	lipoidosis|rare inborn error of lipid storage|inborn error of lipid storage|lipoid storage disease|lipoid storage disorder|rare inborn error of lipid storage|lipidoses|lipoid storage diseas|inborn lipid storage disorder|lipid storage disease|lipidosis|lipoidoses	http://purl.obolibrary.org/obo/MONDO_0019245	An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes.	MESH:D008064|SNOMEDCT:10741005|ORPHA:79204|DOID:9455|UMLS:CN205834
MONDO:0019244	obsolete glycogen storage disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019244		
MONDO:0022880	corticobasal degeneration	biolink:Disease	mondo	SCTID:18842008		corticobasal degeneration|cortical basal ganglionic degeneration|corticodentatonigral degeneration with neuronal achromasia	http://purl.obolibrary.org/obo/MONDO_0022880		SNOMEDCT:18842008
MONDO:0019230	inborn disorder of ornithine or proline metabolism	biolink:Disease	mondo	Orphanet:79185|UMLS:CN227595	ordo_group_of_disorders	disorder of ornithine or proline metabolism	http://purl.obolibrary.org/obo/MONDO_0019230		ORPHA:79185|UMLS:CN227595
MONDO:0022883	craniofacial and skeletal defects	biolink:Disease	mondo	GARD:0001570	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022883		
MONDO:0022884	craniofacial dysostosis arthrogryposis progeroid appearence	biolink:Disease	mondo	GARD:0001573	gard_rare	Van Biervliet Hendrickx Van Ertbruggen syndrome	http://purl.obolibrary.org/obo/MONDO_0022884		
MONDO:0022885		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0022885		
HGNC:20731	GNB4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20731		
MONDO:0007249	camptobrachydactyly	biolink:Disease	mondo	GARD:0001062|MESH:C537967|Orphanet:1319|ICD10:Q74.8|OMIM:114150|SCTID:733045005	ordo_malformation_syndrome|gard_rare	short foot/brachydactyly of toes, camptodactyly, brachydactyly|camptobrachydactyly	http://purl.obolibrary.org/obo/MONDO_0007249	Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972.	http://identifiers.org/omim/114150|ORPHA:1319|MESH:C537967|UMLS:C1861963|SNOMEDCT:733045005
MONDO:0022887	craniofrontonasal syndrome Teebi type	biolink:Disease	mondo	GARD:0001579	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022887		
MONDO:0020225	syndromic cataract	biolink:Disease	mondo	Orphanet:98641|UMLS:CN227829	ordo_group_of_disorders	syndromic cataract (disease)|syndrome associated with cataract (disease)|syndrome associated with cataract (disease)	http://purl.obolibrary.org/obo/MONDO_0020225	A cataract (disease) that is part of a larger syndrome.	ORPHA:98641|UMLS:CN227829
MONDO:0007247	basal ganglia calcification, idiopathic, childhood-onset	biolink:Disease	mondo	GARD:0009598|UMLS:C1861967|OMIM:114100|MESH:C536276	gard_rare	cerebral calcification nonarteriosclerotic idiopathic childhood-onset|IBGC childhood onset|striopallidodentate calcinosis, bilateral, childhood-onset|IBGC, childhood-onset|cerebral calcification, nonarteriosclerotic, idiopathic, childhood-onset|basal ganglia calcification, idiopathic, childhood-onset|idiopathic basal ganglia calcification childhood-onset|bilateral striopallidodentate calcinosis childhood-onset	http://purl.obolibrary.org/obo/MONDO_0007247		http://identifiers.org/omim/114100|MESH:C536276|UMLS:C1861967
MONDO:0010899	autosomal dominant nocturnal frontal lobe epilepsy 1	biolink:Disease	mondo	UMLS:C1838049|DOID:0060682|OMIM:600513|MESH:C563930		epilepsy, nocturnal frontal lobe, 1|epilepsy, nocturnal frontal lobe, 1; ENFL1|ENFL1|nocturnal frontal lobe epilepsy 1|epilepsy, nocturnal frontal lobe, type 1|autosomal dominant nocturnal frontal lobe epilepsy type 1|CHRNA4 autosomal dominant nocturnal frontal lobe epilepsy|autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNA4	http://purl.obolibrary.org/obo/MONDO_0010899	Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA4 gene.	UMLS:C1838049|DOID:0060682|MESH:C563930|http://identifiers.org/omim/600513
MONDO:0020224	obsolete rare cataract	biolink:Disease	mondo	Orphanet:98640	ordo_group_of_disorders|obsoletion_candidate	rare cataract|rare cataract (disease)	http://purl.obolibrary.org/obo/MONDO_0020224	Rare cataract.	ORPHA:98640
MONDO:0007248	hereditary painful callosities	biolink:Disease	mondo	MESH:C566180|ICD10:Q82.8|Orphanet:79141|OMIM:114140|UMLS:C1861964	ordo_disease	PPK nummularis|keratosis palmoplantaris nummularis|callosities, painful plantar|Plamoplantar keratoderma nummularis|callosities, hereditary painful|Plamoplantar hyperkeratosis nummularis	http://purl.obolibrary.org/obo/MONDO_0007248	Hereditary painful callosities is a nummular palmoplantar keratoderma characterized by the development of painful keratotic lesions over pressure points in hands and feet. A few families have been described. Transmission is autosomal dominant. Successful analgesia can be obtained with tretinoin.	http://identifiers.org/omim/114140|MESH:C566180|UMLS:C1861964|ORPHA:79141
MONDO:0010898	Autosomal dominant epilepsy with auditory features	biolink:Disease	mondo	Orphanet:101046|GARD:0002257|MESH:C537297|DOID:0060748|NCIT:C141441|UMLS:C1838062|OMIM:600512	ordo_disease	autosomal dominant lateral temporal lobe epilepsy|familial temporal lobe epilepsy 1|epilepsy, partial, with auditory features|partial epilepsy with auditory aura|partial epilepsy with auditory features|familial temporal lobe epilepsy type 1|epilepsy, familial temporal lobe 1|ADPEAF|ADLTE|epilepsy, familial temporal lobe, 1|autosomal dominant partial epilepsy with auditory features|autosomal dominant epilepsy with auditory features|ETL1|epilepsy, familial temporal lobe, 1; ETL1|epilepsy, lateral temporal lobe, autosomal dominant|ADEAF|epilepsy, familial temporal lobe, type 1	http://purl.obolibrary.org/obo/MONDO_0010898	An autosomal dominant condition that is characterized by partial seizures originating in the temporal lobe and often accompanied by auditory sensory manifestations.	UMLS:C1838062|ORPHA:101046|DOID:0060748|NCIT:C141441|http://identifiers.org/omim/600512|MESH:C537297
MONDO:0007245	neurofibromatosis type 6	biolink:Disease	mondo	GARD:0003967|ICD10:L81.3|UMLS:C1861975|OMIM:114030|Orphanet:2678|MESH:C537421|UMLS:CN035858|GARD:0001050	gard_rare|ordo_malformation_syndrome	familial cafe-au-lait spots|NF6|multiple cafe-au-lait spots|multiple cafe´-au-lait syndrome|multiple cafe-au-lait syndrome|familial cafeB4-au-lait spots|autosomal dominant café au lait spots|cafe au lait spots, multiple|multiple cafe-au-lait spots|multiple café-au-lait syndrome|neurofibromatosis type 6|multiple cafe-au-lait syndrome|cafe-au-lait spots, multiple|familial café-au-lait spots|multiple cafe´-au-lait spots|multiple café-au-lait spots|familial cafe´-au-lait spots	http://purl.obolibrary.org/obo/MONDO_0007245	Neurofibromatosis type 6 (NF6), also referred as cafe-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several cafe-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder.	ORPHA:2678|MESH:C537421|UMLS:C1861975|http://identifiers.org/omim/114030|UMLS:CN035858
MONDO:0020223	lens and zonula anomaly	biolink:Disease	mondo	Orphanet:98639	ordo_group_of_disorders|implicit_genetic_in_ordo|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0020223		ORPHA:98639
MONDO:0020222	rare disease with glaucoma as a major feature	biolink:Disease	mondo	UMLS:CN207054|Orphanet:98638	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0020222		UMLS:CN207054|ORPHA:98638
MONDO:0007246	calcific aortic disease with immunologic abnormalities, familial	biolink:Disease	mondo	MESH:C566182|UMLS:C1861974|OMIM:114065		calcific aortic disease with immunologic abnormalities, familial	http://purl.obolibrary.org/obo/MONDO_0007246		MESH:C566182|UMLS:C1861974|http://identifiers.org/omim/114065
MONDO:0007243	Burkitt lymphoma	biolink:Disease	mondo	NCIT:C2912|ONCOTREE:BL|Orphanet:543|MESH:D002051|ICD10:C83.7|MedDRA:10053518|ICD10:C83.70|MedDRA:10067184|MedDRA:10006595|UMLS:C0006413|ICD9:200.2|EFO:0000309|OMIM:113970|SCTID:118617000|GARD:0005973|DOID:8584|COHD:4041800|ICDO:9687/3	ordo_disease	Burkitt's tumor or lymphoma|Burkitt's lymphoma|BL|Burkitt lymphoma; BL|small non-cleaved cell lymphoma|Burkitt's tumor|Burkitt lymphoma|small non-cleaved cell lymphoma, Burkitt's type|malignant lymphoma, Burkitt's type|Burkitt lymphoma/leukaemia	http://purl.obolibrary.org/obo/MONDO_0007243	Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma.	SNOMEDCT:118617000|MEDDRA:10053518|NCIT:C2912|MEDDRA:10006595|http://identifiers.org/omim/113970|ORPHA:543|UMLS:C0079770|UMLS:C0006413|MEDDRA:10067184|DOID:8584|MESH:D002051
MONDO:0020221	obsolete secondary glaucoma due to a proliferation and differentiation anomaly	biolink:Disease	mondo	Orphanet:98637	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020221		ORPHA:98637
MONDO:0007244	Caffey disease	biolink:Disease	mondo	UMLS:C0020497|NCIT:C118423|OMIM:114000|GARD:0001051|ICD9:756.59|SCTID:24752008|DOID:4257|ICD10:M89.8|MESH:D006958|Orphanet:1310	ordo_malformation_syndrome	cortical congenital hyperostosis|Caffey disease|infantile cortical hyperostosis	http://purl.obolibrary.org/obo/MONDO_0007244	Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described.	NCIT:C118423|SNOMEDCT:24752008|ORPHA:1310|DOID:4257|MESH:D006958|http://identifiers.org/omim/114000|UMLS:C0020497
MONDO:0020220	corneoiridogoniodysgenesis	biolink:Disease	mondo	Orphanet:98636	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020220		ORPHA:98636
MONDO:0007241	bundle branch block, familial isolated complete right	biolink:Disease	mondo	OMIM:113950|UMLS:C0340504|MESH:C562759|SCTID:233919006		bundle branch block, familial isolated complete right	http://purl.obolibrary.org/obo/MONDO_0007241		http://identifiers.org/omim/113950|UMLS:C0340504|SNOMEDCT:233919006|MESH:C562759
MONDO:0007242	butyrylesterase 1	biolink:Disease	mondo	OMIM:113960		Butyrylesterase type 1|butyrylesterase 1	http://purl.obolibrary.org/obo/MONDO_0007242		http://identifiers.org/omim/113960
MONDO:0007240	progressive familial heart block, type 1A	biolink:Disease	mondo	DOID:0111074|EFO:0004138|NCIT:C126651|OMIM:113900|MESH:D002037|COHD:313791|GARD:0001093	gard_rare	progressive familial heart block, type IA|progressive familial heart block type 1A|Cardiac conduction defect, progressive|PFHB1A|heart block progressive familial type 1|Lenegre's syndrome|progressive familial heart block type IA|Lev disease|hereditary bundle branch system defect|heart block, progressive familial, type 1|Cardiac conduction defect, nonprogressive|progressive familial heart block caused by mutation in SCN5A|SCN5A progressive familial heart block|Lenegre's disease|Lenegre disease|progressive familial heart block, type IA; PFHB1A|Lenegre-Lev disease|bundle branch block|heart block, nonprogressive	http://purl.obolibrary.org/obo/MONDO_0007240	An autosomal dominant inherited cardiac bundle branch disorder which can progress to complete heart block.	http://identifiers.org/omim/113900|DOID:0111074|NCIT:C126651|MESH:D002037
MONDO:0020219	corneogoniodysgenesis	biolink:Disease	mondo	Orphanet:98635	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020219		ORPHA:98635
MONDO:0020218	goniodysgenesis	biolink:Disease	mondo	Orphanet:98633|SCTID:251730004	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020218		SNOMEDCT:251730004|ORPHA:98633|UMLS:C0311237
MONDO:0019239	inborn disorder of serine family metabolism	biolink:Disease	mondo	Orphanet:79194|UMLS:CN227601	ordo_group_of_disorders	disorder of serine or glycine metabolism|inborn error of serine family amino acid metabolic process|rare inborn error of serine family amino acid metabolic process|inborn serine family amino acid metabolic process disorder|rare inborn error of serine family amino acid metabolic process|inborn disorder of serine or glycine metabolism	http://purl.obolibrary.org/obo/MONDO_0019239	An acquired metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process.	UMLS:CN227601|ORPHA:79194
MONDO:0020217	secondary dysgenetic glaucoma associated with neural crest cell migration anomaly	biolink:Disease	mondo	Orphanet:98632	ordo_group_of_disorders	glaucoma associated with neural crest cell migration anomaly	http://purl.obolibrary.org/obo/MONDO_0020217		ORPHA:98632
MONDO:0020216	secondary dysgenetic glaucoma	biolink:Disease	mondo	Orphanet:98631	ordo_group_of_disorders	secondary congenital glaucoma	http://purl.obolibrary.org/obo/MONDO_0020216	A hereditary disease that is associated with congenital ocular anomalies such as conditions associated with mesodermal dysgenesis of the neural crest, phakomatoses characterized by hamartomas, metabolic disorders, mitotic disorders, and other congenital disorders and associated with acquired conditions such as tumors, uveitis, and trauma.	ORPHA:98631
HGNC:19747	EVC2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19747		
MONDO:0020215	syndromic corneal dystrophy	biolink:Disease	mondo	UMLS:CN227823|Orphanet:98628	ordo_group_of_disorders	syndrome associated with corneal dystrophy (disease)|syndromic corneal dystrophy (disease)|syndrome associated with corneal dystrophy (disease)	http://purl.obolibrary.org/obo/MONDO_0020215	A corneal dystrophy (disease) that is part of a larger syndrome.	UMLS:CN227823|ORPHA:98628
MONDO:0019236	inborn disorder of purine metabolism	biolink:Disease	mondo	Orphanet:79191|MedDRA:10061476	ordo_group_of_disorders	disorder of purine metabolism|rare inborn error of purine nucleobase metabolic process|inborn error of purine nucleobase metabolic process|rare inborn error of purine nucleobase metabolic process|inborn purine nucleobase metabolic process disorder	http://purl.obolibrary.org/obo/MONDO_0019236	An acquired metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process.	ORPHA:79191|MEDDRA:10061476|UMLS:C0268104
MONDO:0019235	inborn disorder of phenylalanin or tyrosine metabolism	biolink:Disease	mondo	UMLS:CN227599|Orphanet:79190	ordo_group_of_disorders	disorder of phenylalanin or tyrosine metabolism	http://purl.obolibrary.org/obo/MONDO_0019235		UMLS:CN227599|ORPHA:79190
MONDO:0019238	inborn disorder of pyrimidine metabolism	biolink:Disease	mondo	MedDRA:10070969|DOID:0050832|Orphanet:79193	ordo_group_of_disorders	pyrimidine metabolic disorder|disorder of pyrimidine metabolism|rare inborn error of pyrimidine nucleobase metabolic process|inborn pyrimidine nucleobase metabolic process disorder|inborn error of pyrimidine nucleobase metabolic process|rare inborn error of pyrimidine nucleobase metabolic process	http://purl.obolibrary.org/obo/MONDO_0019238	ANPM	MEDDRA:10070969|ORPHA:79193|DOID:0050832|UMLS:C0268127
HGNC:19743	POMT2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19743		
MONDO:0019237	inborn disorder of pyridoxine metabolism	biolink:Disease	mondo	Orphanet:79192|UMLS:CN227600|ICD10:G40.8	ordo_group_of_disorders	disorder of pyridoxine metabolism|rare inborn error of pyridoxine metabolic process|inborn error of pyridoxine metabolic process|rare inborn error of pyridoxine metabolic process|inborn pyridoxine metabolic process disorder	http://purl.obolibrary.org/obo/MONDO_0019237	An acquired metabolic disease that is has its basis in the disruption of pyridoxine metabolic process.	UMLS:CN227600|ORPHA:79192
MONDO:0019232	inborn disorder of peptide metabolism	biolink:Disease	mondo	UMLS:CN227597|Orphanet:79187	ordo_group_of_disorders	disorder of peptide metabolism	http://purl.obolibrary.org/obo/MONDO_0019232		UMLS:CN227597|ORPHA:79187
MONDO:0019231	inborn disorder of pentose phosphate metabolism	biolink:Disease	mondo	UMLS:CN227596|ICD10:E74.8|Orphanet:79186	ordo_group_of_disorders	disorder of pentose phosphate metabolism	http://purl.obolibrary.org/obo/MONDO_0019231		UMLS:CN227596|ORPHA:79186
MONDO:0019234	peroxisome biogenesis disorder	biolink:Disease	mondo	SCTID:742876007|NCIT:C146639|GARD:0009473|DOID:0080377|GARD:0011890|MESH:C536664|OMIMPS:214100|Orphanet:79189|MESH:C531857	ordo_group_of_disorders	PBD-ZSD|Zellweger spectrum disorders|disorders of peroxisome biogenesis|peroxisome biogenesis disorder-Zellweger syndrome spectrum|peroxisome biogenesis disorders, Zellweger syndrome spectrum|Zellweger syndrome spectrum|peroxisome biogenesis disorder spectrum|Zellweger spectrum disorder|peroxisomal biogenesis disorders|PBD-Zellweger spectrum disorder|PBD-ZSS|Zellweger spectrum|ZSD|cerebrohepatorenal syndrome|PBD, ZSS|peroxisomal biogenesis disorders, Zellweger syndrome spectrum	http://purl.obolibrary.org/obo/MONDO_0019234	Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD).	UMLS:C1832200|MESH:C531857|DOID:0080377|NCIT:C146639|MESH:C536664|ORPHA:79189|SNOMEDCT:742876007
MONDO:0019233	peroxisomal beta-oxidation disorder	biolink:Disease	mondo	ICD10:E71.3|UMLS:CN227598|GARD:0012470|Orphanet:79188	ordo_group_of_disorders|gard_rare		http://purl.obolibrary.org/obo/MONDO_0019233		UMLS:CN227598|ORPHA:79188
MONDO:0022871	corpus callosum agenesis of blepharophimosis robin type	biolink:Disease	mondo	GARD:0001538	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022871		
MONDO:0022872	corpus callosum dysgenesis X-linked recessive	biolink:Disease	mondo	GARD:0001543	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022872		
MONDO:0022873	corpus callosum dysgenesis cleft spasm	biolink:Disease	mondo	GARD:0001541	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022873		
MONDO:0022874	corpus callosum dysgenesis hypopituitarism	biolink:Disease	mondo	GARD:0001542	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022874		
MONDO:0022875	cortada Koussef Matsumoto syndrome	biolink:Disease	mondo	GARD:0001546	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022875		
MONDO:0022876	Cortes Lacassie syndrome	biolink:Disease	mondo	GARD:0001547	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022876		
MONDO:0010888	endometriosis of uterus	biolink:Disease	mondo	UMLS:C0341858|OMIM:600458|NCIT:C6996|SCTID:237115002|ICD10:N80.0|MESH:D062788|COHD:200461|DOID:288|EFO:1001757|ICD9:617.0|GARD:0008156		endometriosis of myometrium|uterine adenomyosis|endometriosis interna|myometrium endometriosis (disease)|endometriosis, myometrium|uterine corpus adenomyosis|adenomyosis of uterus|adenomyosis|adenomyosis of the uterus|uterus corpus adenomyosis|endometriosis (disease) of myometrium	http://purl.obolibrary.org/obo/MONDO_0010888	The growth of endometrial tissue inside the muscular wall of the uterine corpus. Clinical manifestations include pain, dysmenorrhea, and menorrhagia.	DOID:288|SNOMEDCT:237115002|UMLS:C0341858|NCIT:C6996|MESH:D062788|http://identifiers.org/omim/600458
MONDO:0007258	canine teeth, absence of upper permanent	biolink:Disease	mondo	OMIM:114600|UMLS:C1861899		canine teeth, absence of upper permanent	http://purl.obolibrary.org/obo/MONDO_0007258		http://identifiers.org/omim/114600|UMLS:C1861899
MONDO:0020214	posterior corneal dystrophy	biolink:Disease	mondo	UMLS:CN227822|UMLS:C2063478|ICD9:371.58|SCTID:35091000119101|ICD10:H18.5|Orphanet:98627	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020214	Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy.	ORPHA:98627|SNOMEDCT:35091000119101|UMLS:C2063478|UMLS:CN227822
MONDO:0020213	stromal corneal dystrophy	biolink:Disease	mondo	DOID:0060442|SCTID:231931001|ICD9:371.56|UMLS:C0038457|ICD10:H18.5|Orphanet:98626	ordo_group_of_disorders	substantia propria of cornea corneal dystrophy (disease)|stromal dystrophy|corneal stromal dystrophy|corneal dystrophy (disease) of substantia propria of cornea	http://purl.obolibrary.org/obo/MONDO_0020213	The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy.	SNOMEDCT:231931001|UMLS:C0038457|ORPHA:98626|DOID:0060442
MONDO:0007259	craniofaciofrontodigital syndrome	biolink:Disease	mondo	UMLS:C2676032|Orphanet:363705|MESH:C567298|ICD10:Q87.0|OMIM:114620|SCTID:763320005	ordo_disease	craniofaciofrontodigital syndrome|Cantu craniofaciofrontodigital syndrome	http://purl.obolibrary.org/obo/MONDO_0007259	Craniofaciofrontodigital is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).	http://identifiers.org/omim/114620|UMLS:C2676032|MESH:C567298|ORPHA:363705|SNOMEDCT:763320005
MONDO:0010887	isolated anterior cervical hypertrichosis	biolink:Disease	mondo	MESH:C538390|UMLS:C1838123|GARD:0008438|ICD10:L68.2|OMIM:600457|SCTID:717963001|Orphanet:3387	ordo_disease|gard_rare	anterior cervical hypertrichosis|hairy throat|Tsukahara-Kajii syndrome|Tsukahara Kajii syndrome|hairy throat syndrome|hypertrichosis, anterior cervical	http://purl.obolibrary.org/obo/MONDO_0010887	Anterior cervical hypertrichosis is a rare form of localised hypertrichosis characterised by hair growth near the laryngeal prominence during childhood.	UMLS:C1838123|SNOMEDCT:717963001|ORPHA:3387|http://identifiers.org/omim/600457|MESH:C538390
MONDO:0007256	hepatocellular carcinoma	biolink:Disease	mondo	OMIM:114550|ICD10:C22.0|ONCOTREE:HCC|NCIT:C3099|MedDRA:10049010|DOID:686|EFO:0000182|DOID:684|ICDO:8170/3|COHD:4001171|MESH:D006528|Orphanet:88673	ordo_disease	hepatoblastoma caused by somatic mutation|liver cancer|liver carcinoma|carcinoma, hepatocellular, malignant|liver and intrahepatic bile duct carcinoma|hepatocellular carcinoma|adult primary hepatocellular carcinoma|hepatoblastoma|carcinoma of the liver cells|carcinoma of liver cells|hepatocellular adenocarcinoma|primary carcinoma of the liver cells|carcinoma of liver|hepatoma|hepatocellular cancer|primary carcinoma of liver cells|liver cell carcinoma|liver cell cancer (hepatocellular carcinoma)|HCC|cancer, hepatocellular|adult hepatoma	http://purl.obolibrary.org/obo/MONDO_0007256	A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation.	http://identifiers.org/omim/114550|DOID:684|DOID:686|MESH:D006528|NCIT:C3099|MEDDRA:10049010|ORPHA:88673
MONDO:0020212	superficial corneal dystrophy	biolink:Disease	mondo	Orphanet:98625|SCTID:430888006|UMLS:C2315777|ICD10:H18.5|ICD9:371.52	ordo_group_of_disorders	corneal epithelium corneal dystrophy (disease)|anterior corneal dystrophy|dystrophy of anterior cornea	http://purl.obolibrary.org/obo/MONDO_0020212	The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy.	ORPHA:98625|UMLS:C2315777|SNOMEDCT:430888006
MONDO:0007257	CANDF1	biolink:Disease	mondo	MESH:C567779|OMIM:114580|UMLS:C2751429		candidiasis, familial, 1; CANDF1|candidiasis, familial chronic mucocutaneous, autosomal dominant, with or without thyroid disease|candidiasis, familial, 1|Cmct|CANDF1	http://purl.obolibrary.org/obo/MONDO_0007257		http://identifiers.org/omim/114580|MESH:C567779|UMLS:C2751429
MONDO:0020211	syndromic keratoconus	biolink:Disease	mondo	UMLS:CN227821|Orphanet:98623	ordo_group_of_disorders	syndrome associated with keratoconus (disease)|syndromic keratoconus (disease)|syndrome associated with keratoconus (disease)	http://purl.obolibrary.org/obo/MONDO_0020211	A keratoconus (disease) that is part of a larger syndrome.	ORPHA:98623|UMLS:CN227821
MONDO:0010889	arterial dissection-lentiginosis syndrome	biolink:Disease	mondo	Orphanet:1682|UMLS:C1838122|MESH:C563937|OMIM:600459|ICD10:Q87.8	ordo_malformation_syndrome	arterial dissection with lentiginosis	http://purl.obolibrary.org/obo/MONDO_0010889	Arterial dissection-lentiginosis is a rare association syndrome, reported in several members of two families to date, and characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities).	ORPHA:1682|UMLS:C1838122|MESH:C563937|http://identifiers.org/omim/600459
MONDO:0007254	breast cancer	biolink:Disease	mondo	ICD10:C50|NCIT:C9335|ICD10:C50-C50|SCTID:254837009|ICD9:174.8|DOID:1612		malignant tumor of the breast|primary breast cancer|malignant tumor of breast|malignant neoplasm of breast|cancer of breast|mammary tumor|malignant breast tumor|malignant neoplasm of the breast|malignant breast neoplasm|breast cancer|breast tumor|mammary neoplasm|mammary cancer	http://purl.obolibrary.org/obo/MONDO_0007254	A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males.	NCIT:C9335|DOID:1612|SNOMEDCT:254837009
MONDO:0020210	syndromic hyperopia	biolink:Disease	mondo	UMLS:CN227820|Orphanet:98622	ordo_group_of_disorders	syndromic hyperopia|syndrome associated with hyperopia|syndrome associated with hyperopia	http://purl.obolibrary.org/obo/MONDO_0020210	A hyperopia that is part of a larger syndrome.	ORPHA:98622|UMLS:CN227820
MONDO:0007255	obsolete colorectal cancer	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0007255		
MONDO:0007252	Gordon syndrome	biolink:Disease	mondo	Orphanet:376|ICD9:579.8|UMLS:C0220666|GARD:0002553|MESH:C537288|SCTID:237850008|ICD10:Q68.8|OMIM:114300	gard_rare|ordo_malformation_syndrome	camptodactyly-cleft palate-clubfoot syndrome|arthrogryposis multiplex congenita, distal, type 2A|distal arthrogryposis type 3|arthrogryposis, distal, type 3; DA3|DA3|distal arthrogryposis type IIA|arthrogryposis distal type 3|arthrogryposis, distal, type 3|camptodactyly, cleft palate, and clubfoot|Gordon syndrome	http://purl.obolibrary.org/obo/MONDO_0007252	Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.	MESH:C537288|ORPHA:376|UMLS:C0220666|SNOMEDCT:237850008|http://identifiers.org/omim/114300
MONDO:0007253	cancer, familial, with in vitro Radioresistance	biolink:Disease	mondo	MESH:C566179|OMIM:114450|UMLS:C1861915		cancer, familial, with in vitro RADIORESISTANCE	http://purl.obolibrary.org/obo/MONDO_0007253		MESH:C566179|UMLS:C1861915|http://identifiers.org/omim/114450
MONDO:0007250	camptodactyly of fingers	biolink:Disease	mondo	ICD9:755.59|MESH:C536852|Orphanet:295016|GARD:0009448|MESH:C567780|SCTID:29271008|ICD10:Q68.1|OMIM:114200	ordo_morphological_anomaly|gard_rare	camptodactyly and knuckle pads|minor streblomicrodactyly, familial|streblodactyly|camptodactyly 1|camptodactyly 1; CAMPD1|CAMPD1|crooked little finger, familial|familial streblodactyly	http://purl.obolibrary.org/obo/MONDO_0007250	Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected.	MESH:C567780|SNOMEDCT:29271008|ORPHA:295016|MESH:C536852|http://identifiers.org/omim/114200
MONDO:0010891	lethal hemolytic anemia-genital anomalies syndrome	biolink:Disease	mondo	Orphanet:1046|MESH:C563935|ICD10:D58.8|OMIM:600461|UMLS:C1838120|GARD:0002642	ordo_malformation_syndrome	water-West syndrome|hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities|hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities	http://purl.obolibrary.org/obo/MONDO_0010891	Waters-West syndrome is characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions (at 6 and 12 weeks gestation) but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. Although the parents were not known to be consanguineous, they shared a French-Canadian and American Indian ethnic origin.	MESH:C563935|ORPHA:1046|http://identifiers.org/omim/600461|UMLS:C1838120
MONDO:0007251	campomelic dysplasia	biolink:Disease	mondo	UMLS:C1861923|ICD10:Q87.1|UMLS:C1861922|GARD:0010027|DOID:0050463|SCTID:74928006|OMIM:114290|Orphanet:140|NCIT:C84609|MESH:D055036|ICD9:733.29	ordo_malformation_syndrome	CMPD1|Cmpd|CMD|Cmpd1/Sra1|campomelic dwarfism|campomelic dysplasia|campomelic dysplasia with autosomal Sex reversal|acampomelic campomelic dysplasia with autosomal Sex reversal|Cmd1|camptomelic dysplasia|acampomelic campomelic dysplasia	http://purl.obolibrary.org/obo/MONDO_0007251	Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations).	ORPHA:140|UMLS:C1861922|UMLS:C1861923|DOID:0050463|SNOMEDCT:74928006|NCIT:C84609|http://identifiers.org/omim/114290|MESH:D055036
MONDO:0010890	acrocardiofacial syndrome	biolink:Disease	mondo	UMLS:C1838121|MESH:C563936|ICD10:Q87.8|Orphanet:2008|OMIM:600460|GARD:0001167	ordo_malformation_syndrome|gard_rare	CCGE syndrome|cleft palate, CARDIAC defect, genital anomalies, and ectrodactyly|cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome|CCGE|acrocardiofacial syndrome|ACFS	http://purl.obolibrary.org/obo/MONDO_0010890	Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit.	MESH:C563936|ORPHA:2008|http://identifiers.org/omim/600460|UMLS:C1838121
MONDO:0010893	malignant hyperthermia, susceptibility to, 4	biolink:Disease	mondo	MESH:C535697|GARD:0003366|OMIM:600467	gard_rare|predisposition	malignant hyperthermia susceptibility type 4|malignant hyperthermia, susceptibility to, 4|malignant hyperthermia, susceptibility to, type 4|Mhs4|malignant hyperpyrexia susceptibility type 4|MHS4	http://purl.obolibrary.org/obo/MONDO_0010893		MESH:C535697|http://identifiers.org/omim/600467
MONDO:0020209	rare hyperopia and astigmatism	biolink:Disease	mondo	Orphanet:98621|UMLS:CN227819	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020209		UMLS:CN227819|ORPHA:98621
MONDO:0020208	syndromic myopia	biolink:Disease	mondo	Orphanet:98620|UMLS:CN227818	ordo_group_of_disorders	syndrome associated with myopia (disease)|syndromic myopia (disease)|syndrome associated with myopia (disease)	http://purl.obolibrary.org/obo/MONDO_0020208	A myopia (disease) that is part of a larger syndrome.	UMLS:CN227818|ORPHA:98620
MONDO:0010892	obsolete mitochondrial myopathy and sideroblastic anemia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0010892		
MONDO:0010895	ABCD syndrome	biolink:Disease	mondo	Orphanet:918|MESH:C535334|UMLS:CN206498|UMLS:C1838099|OMIM:600501|DOID:0050600		albinism, black lock, cell migration disorder of the Neurocytes of the gut, and deafness|ABCDS|albinism, block lock, cell migration disorder of the neurocytes of the gut, and deafness|ABCD syndrome|ABCD syndrome; ABCDS	http://purl.obolibrary.org/obo/MONDO_0010895	An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB).	DOID:0050600|ORPHA:918|MESH:C535334|UMLS:CN206498|http://identifiers.org/omim/600501|UMLS:C1838099
MONDO:0019229	inborn disorder of ketolysis	biolink:Disease	mondo	UMLS:CN227594|ICD10:E71.3|Orphanet:79183	ordo_group_of_disorders	rare inborn error of ketone body catabolic process|disorder of ketolysis|inborn ketone body catabolic process disorder|rare inborn error of ketone body catabolic process|inborn error of ketone body catabolic process	http://purl.obolibrary.org/obo/MONDO_0019229	An acquired metabolic disease that is has its basis in the disruption of ketone body catabolic process.	UMLS:CN227594|ORPHA:79183
MONDO:0020207	obsolete rare isolated myopia	biolink:Disease	mondo	UMLS:CN924920|Orphanet:98619	obsoletion_candidate|ordo_disease		http://purl.obolibrary.org/obo/MONDO_0020207	Rare isolated myopia is a rare, genetic, refraction anomaly disorder characterized by non-syndromic severe myopia, which may be associated with cataract and vitreoretinal degeneration (retinal detachment) that may lead to blindness.	UMLS:CN924920|ORPHA:98619
MONDO:0020206	rare refraction anomaly	biolink:Disease	mondo	Orphanet:98618	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0020206		ORPHA:98618
MONDO:0019228	inborn disorder of histidine metabolism	biolink:Disease	mondo	DOID:9265|ICD10:E70.40|Orphanet:79181|ICD9:270.5|ICD10:E70.8|ICD10:E70.4	ordo_group_of_disorders	histidine metabolism disease|disorder of histidine metabolism|rare inborn error of histidine metabolic process|inborn error of histidine metabolic process|inborn histidine metabolic process disorder|inborn error of histidine metabolism|rare inborn error of histidine metabolic process|disturbances of histidine metabolism	http://purl.obolibrary.org/obo/MONDO_0019228	An acquired metabolic disease that is has its basis in the disruption of histidine metabolic process.	UMLS:C0268512|ORPHA:79181|DOID:9265
MONDO:0010894	maturity-onset diabetes of the young type 3	biolink:Disease	mondo	OMIM:600496|SCTID:609570008|DOID:0111102|MESH:C563933|GARD:0010658|NCIT:C129742|UMLS:C1838100	gard_rare	maturity-onset diabetes of the young, type 3; MODY3|HNF1A maturity-onset diabetes of the young (disease)|MODY3|maturity-onset diabetes of the young, type 3|type 3 maturity-onset diabetes of the young|HNF1A-associated monogenic diabetes|diabetes mellitus MODY type 3|MODY type 3|MODY, type 3|MODY hepatocyte nuclear factor-1-alpha related|maturity-onset diabetes of the young (disease) caused by mutation in HNF1A|hepatocyte nuclear Factor 1-Alpha-associated monogenic diabetes	http://purl.obolibrary.org/obo/MONDO_0010894	Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha.	MESH:C563933|http://identifiers.org/omim/600496|SNOMEDCT:609570008|DOID:0111102|NCIT:C129742|UMLS:C1838100
MONDO:0020205	bulbar conjunctival dermoid or conjunctival dermolipoma	biolink:Disease	mondo	Orphanet:98617	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020205		ORPHA:98617
MONDO:0010897	SCZD3	biolink:Disease	mondo	DOID:0070079|UMLS:C1838069|OMIM:600511		schizophrenia susceptibility locus, chromosome 6-related|schizophrenia 3|schizophrenia 3 with or without an affective disorder|SCZD3|schizophrenia 3; SCZD3	http://purl.obolibrary.org/obo/MONDO_0010897	A schizophrenia that has material basis in an autosomal dominant mutation of SCZD3 on chromosome 6p23.	UMLS:C1838069|DOID:0070079|http://identifiers.org/omim/600511
MONDO:0010896	pigment dispersion syndrome	biolink:Disease	mondo	UMLS:C1271398|GARD:0004356|MESH:C563184|SCTID:392133001|DOID:0060680|OMIM:600510	gard_rare	glaucoma, pigment-dispersion type|glaucoma-RELATED pigment dispersion syndrome; GPDS1|pigment-dispersion syndrome|pigment-dispersion type glaucoma|pigment dispersion syndrome|glaucoma-related pigment dispersion syndrome|glaucoma-RELATED pigment dispersion syndrome|GPDS1	http://purl.obolibrary.org/obo/MONDO_0010896	Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the pressure within the eye (intraocular pressure or IOP). This rise in eye pressure can cause damage to the optic nerve (the nerve in the back of the eye that carries visual images to the brain). If the optic nerve becomes damaged, pigment-dispersion syndrome becomes pigmentary glaucoma. This happens in about 30% of cases. Pigment-dispersion syndrome commonly presents between the second and fourth decades, which is earlier than other types of glaucoma. While men and women are affected in equal numbers, men develop pigmentary glaucoma up to 3 times more often than women. Myopia (nearsightedness) appears to be an important risk factor in the development of pigment-dispersion syndrome and is present in up to 80% of affected individuals. The condition may be sporadic or follow an autosomal dominant pattern of inheritance with reduced penetrance. At least one gene locus on chromosome 7 has been identified. Pigment-dispersion syndrome can be treated with eye drops or other medications. In some cases, laser surgery may be performed.	MESH:C563184|DOID:0060680|http://identifiers.org/omim/600510|UMLS:C1271398|SNOMEDCT:392133001
MONDO:0020204	conjunctival tumor	biolink:Disease	mondo	Orphanet:98616|NCIT:C2961	ordo_group_of_disorders	conjunctival neoplasm|neoplasm of conjunctiva|conjunctiva tumor|tumor of the conjunctiva|conjunctival tumor|conjunctiva neoplasm (disease)|conjunctival neoplasms|conjunctiva neoplasm|tumor of conjunctiva|neoplasm of the conjunctiva	http://purl.obolibrary.org/obo/MONDO_0020204	A benign or malignant neoplasm that affects the conjunctiva. Representative examples include papilloma, squamous cell carcinoma, and melanoma.	NCIT:C2961|ORPHA:98616
GO:0042359	vitamin D metabolic process	biolink:OntologyClass	mondo			cholecalciferol metabolism|ergocalciferol metabolism|ergocalciferol metabolic process|cholecalciferol metabolic process|calciferol metabolic process|vitamin D metabolism|calciferol metabolism	http://purl.obolibrary.org/obo/GO_0042359	The chemical reactions and pathways involving vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3).	
MONDO:0019225	gluconeogenesis disorder	biolink:Disease	mondo	UMLS:CN227592|Orphanet:79177|ICD10:E74.4	ordo_group_of_disorders	inborn gluconeogenesis disorder|rare inborn error of gluconeogenesis|inborn error of gluconeogenesis|rare inborn error of gluconeogenesis	http://purl.obolibrary.org/obo/MONDO_0019225	An acquired metabolic disease that is has its basis in the disruption of gluconeogenesis.	UMLS:CN227592|ORPHA:79177
MONDO:0022866	corneal dystrophy pigmentary anomaly malabsorption	biolink:Disease	mondo	GARD:0001530	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022866		
MONDO:0019224	inborn disorder of gamma-aminobutyric acid metabolism	biolink:Disease	mondo	UMLS:CN227591|Orphanet:79175|ICD10:E72.8	ordo_group_of_disorders	disorder of gamma-aminobutyric acid metabolism|disorder of GABA metabolism|inborn gamma-aminobutyric acid metabolic process disorder|rare inborn error of gamma-aminobutyric acid metabolic process|inborn error of gamma-aminobutyric acid metabolic process|rare inborn error of gamma-aminobutyric acid metabolic process	http://purl.obolibrary.org/obo/MONDO_0019224	An acquired metabolic disease that is has its basis in the disruption of gamma-aminobutyric acid metabolic process.	UMLS:CN227591|ORPHA:79175
MONDO:0019227	inborn disorder of glycerol metabolism	biolink:Disease	mondo	Orphanet:79179	ordo_group_of_disorders	disorder of glycerol metabolism|inborn glycerol metabolic process disorder|inborn error of glycerol metabolic process|rare inborn error of glycerol metabolic process|rare inborn error of glycerol metabolic process	http://purl.obolibrary.org/obo/MONDO_0019227	An acquired metabolic disease that is has its basis in the disruption of glycerol metabolic process.	ORPHA:79179|UMLS:C0342762
MONDO:0022869	coronary arteries congenital malformation	biolink:Disease	mondo	GARD:0001534	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022869		
MONDO:0019226	glucose transport disorder	biolink:Disease	mondo	UMLS:CN227593|Orphanet:79178|ICD10:E74.8	ordo_group_of_disorders	inborn error of glucose transport|rare inborn error of glucose transport	http://purl.obolibrary.org/obo/MONDO_0019226	An acquired metabolic disease that is has its basis in the disruption of glucose transport.	UMLS:CN227593|ORPHA:79178
MONDO:0019221	obsolete creatine deficiency syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019221		
MONDO:0019220	inborn disorder of cobalamin metabolism and transport	biolink:Disease	mondo	Orphanet:79171|UMLS:CN043592|UMLS:CN227587	ordo_group_of_disorders	disorder of cobalamin metabolism and transport	http://purl.obolibrary.org/obo/MONDO_0019220		UMLS:CN227587|UMLS:CN043592|ORPHA:79171
MONDO:0019223	inborn disorder of fatty acid oxidation and ketone body metabolism	biolink:Disease	mondo	UMLS:CN227590|Orphanet:79174|ICD10:E71.3	ordo_group_of_disorders	disorder of fatty acid oxidation and ketone body metabolism	http://purl.obolibrary.org/obo/MONDO_0019223		UMLS:CN227590|ORPHA:79174
HGNC:19750	TTC7A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19750		
MONDO:0019222	inborn disorder of methionine cycle and sulfur amino acid metabolism	biolink:Disease	mondo	ICD10:E72.1|Orphanet:79173|UMLS:CN227589|ICD9:270.4|SCTID:28882002	ordo_group_of_disorders	cytosolic methyl group transfer or sulfur amino acid metabolism disorder|rare inborn error of sulfur amino acid metabolic process|inborn error of sulfur amino acid metabolic process|disorder of methionine cycle and sulfur amino acid metabolism|rare inborn error of sulfur amino acid metabolic process|inborn sulfur amino acid metabolic process disorder	http://purl.obolibrary.org/obo/MONDO_0019222	An acquired metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process.	UMLS:CN227589|ORPHA:79173|SNOMEDCT:28882002
MONDO:0010918	EIG1	biolink:Disease	mondo	MESH:C562694|ICD9:345.10|SCTID:36803009|OMIM:600669	predisposition	EIG|epilepsy, idiopathic generalized, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0010918		http://identifiers.org/omim/600669|SNOMEDCT:36803009|MESH:C562694
MONDO:0009929	neonatal acute respiratory distress due to SP-B deficiency	biolink:Disease	mondo	GARD:0004595|UMLS:C1968602|OMIM:265120|Orphanet:217563|MESH:C566882|ICD10:P28.0	gard_rare|ordo_disease	surfactant metabolism dysfunction, pulmonary, type 1|pulmonary alveolar proteinosis, congenital, 1|interstitial lung disease due to surfactant Protein B deficiency|interstitial lung disease, nonspecific, due to surfactant Protein B deficiency|surfactant metabolism dysfunction, pulmonary, 1|SMDP1|neonatal acute respiratory distress due to surfactant protein B deficiency|surfactant metabolism dysfunction, pulmonary, 1; SMDP1|pulmonary surfactant protein B, deficiency of	http://purl.obolibrary.org/obo/MONDO_0009929		http://identifiers.org/omim/265120|UMLS:C1968602|ORPHA:217563|MESH:C566882
MONDO:0009928	pulmonary alveolar microlithiasis	biolink:Disease	mondo	ICD10:J84.0|Orphanet:60025|ICD10:J84.02|ICD9:516.2|OMIM:265100|MedDRA:10037315|COHD:437906|UMLS:C0155912|SCTID:87153008|GARD:0011894|DOID:12117|MESH:C562405	ordo_disease|gard_rare	pulmonary alveolar microlithiasis	http://purl.obolibrary.org/obo/MONDO_0009928	Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasismay also develop calcium phosphate deposits in other organs and tissue of the body. Though the course of the disease can be variable,many casesslowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner.	UMLS:C0155912|MESH:C562405|MEDDRA:10037315|ORPHA:60025|DOID:12117|SNOMEDCT:87153008|http://identifiers.org/omim/265100
MONDO:0010917	CCAL1	biolink:Disease	mondo	OMIM:600668|GARD:0006048|MESH:C535938		chondrocalcinosis 1|chondrocalcinosis with early-onset osteoarthritis|chondrocalcinosis 1; CCAL1|CCAL1	http://purl.obolibrary.org/obo/MONDO_0010917		http://identifiers.org/omim/600668|MESH:C535938
MONDO:0009927	3MC syndrome 2	biolink:Disease	mondo	EFO:1001977|OMIM:265050|DOID:0060576|Orphanet:2998|MESH:C535586		ptosis of eyelids with diastasis recti and hip dysplasia|3Mc syndrome type 2|COLEC11 3MC syndrome|oculo-skeletal-abdominal syndrome|3MC syndrome 2|3MC syndrome 2; 3MC2|Osa syndrome|Carnevale syndrome, formerly|3MC syndrome caused by mutation in COLEC11|Carnevale syndrome|3MC2|3MC syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0009927	Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene.	ORPHA:2998|MESH:C535586|DOID:0060576|http://identifiers.org/omim/265050
MONDO:0009926	autosomal recessive multiple pterygium syndrome	biolink:Disease	mondo	NCIT:C101039|GARD:0007111|ICD10:Q79.8|SCTID:80773006|OMIM:265000|Orphanet:2990|UMLS:CN203342|ICD9:759.89	gard_rare|ordo_malformation_syndrome	autosomal recessive non-lethal multiple pterygium syndrome|multiple pterygium syndrome, autosomal recessive|multiple pterygium syndrome nonlethal type|multiple pterygium syndrome, ESCOBAR variant; EVMPS|autosomal recessive multiple pterygium syndrome|Escobar variant multiple pterygium syndrome|multiple pterygium syndrome Escobar type|pterygium Universale|multiple pterygium syndrome, Nonlethal type|pterygium colli syndrome|multiple pterygium syndrome, ESCOBAR variant|multiple pterygium syndrome|pterygium syndrome|EVMPS|Escobar syndrome|pterygium universale	http://purl.obolibrary.org/obo/MONDO_0009926	A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant.	UMLS:CN203342|SNOMEDCT:80773006|ORPHA:2990|NCIT:C101039|http://identifiers.org/omim/265000
MONDO:0010919	varicella, severe recurrent	biolink:Disease	mondo	MESH:C563458|OMIM:600670|UMLS:C1833487		varicella, severe recurrent	http://purl.obolibrary.org/obo/MONDO_0010919		UMLS:C1833487|http://identifiers.org/omim/600670|MESH:C563458
HGNC:2309	CPLX1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2309		
MONDO:0009925	autosomal recessive inherited pseudoxanthoma elasticum	biolink:Disease	mondo	UMLS:C0033847|DOID:2738|NCIT:C85036|SCTID:72744008|ICD9:757.39|MESH:D011561|ICD10:Q82.8|SCTID:402782006|Orphanet:758|OMIM:264800|MedDRA:10037150	gard_rare|ordo_disease	PXE, modifier of severity of|Gronblad-Strandberg syndrome|PXE|AR inherited pseudoxanthoma elasticum|pseudoxanthoma elasticum; PXE|pseudoxanthoma elasticum, modifier of severity of|Gronblad-Strandberg-Touraine syndrome|pseudoxanthoma elasticum|Gronblad Strandberg syndrome	http://purl.obolibrary.org/obo/MONDO_0009925	An autosomal recessive form of PXE.	SNOMEDCT:72744008|MEDDRA:10037150|UMLS:C0033847|http://identifiers.org/omim/264800|SNOMEDCT:402782006|ORPHA:758|MESH:D011561|NCIT:C85036|DOID:2738
MONDO:0009924	vitamin D-dependent rickets, type 1	biolink:Disease	mondo	SCTID:67049004|MESH:C562688|NCIT:C131073|Orphanet:289157|ICD10:E55.0	ordo_disease	VDDR-I|vitamin D 1 Alpha-Hydroxylase deficiency|VDDR1|hypocalcemic vitamin D-dependent rickets|PDDRI|vitamin D dependency, type 1|vitamin D-dependency type I|pseudovitamin D-deficient rickets|VDDI|selective 1-alpha, 25-hydroxyvitamin D3 deficiency|1-alpha-hydroxylase deficiency|1 Alpha-hydroxylase deficiency|vitamin D-dependent rickets type 1|pseudo vitamin-D deficient rickets|vitamin D dependent rickets type I	http://purl.obolibrary.org/obo/MONDO_0009924	Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.	NCIT:C131073|ORPHA:289157|SNOMEDCT:67049004|MESH:C562688
MONDO:0009923	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency	biolink:Disease	mondo	GARD:0005680|SCTID:57514000|MESH:C535830|Orphanet:753|OMIM:264600|ICD10:Q56.1|MedDRA:10000029|NCIT:C98699	ordo_disease	5-alpha reductase deficiency|pseudovaginal perineoscrotal hypospadias|steroid 5-alpha-reductase deficiency|PPSH|familial incomplete Male pseudohermaphroditism, type 2|5 Alpha steroid reductase 2 deficiency|micropenis|pseudovaginal perineoscrotal hypospadias; PPSH|Male pseudohermaphroditism due to 5-Alpha-reductase deficiency|3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency|Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency|46,XY DSD due to 5-alpha-reductase 2 deficiency	http://purl.obolibrary.org/obo/MONDO_0009923	A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis.	http://identifiers.org/omim/264600|SNOMEDCT:57514000|ORPHA:753|MESH:C535830|NCIT:C98699|MEDDRA:10000029
MONDO:0009922	Pseudouridinuria and mental defect	biolink:Disease	mondo	MESH:C564864|UMLS:C1849648|OMIM:264500		Pseudouridinuria and mental defect	http://purl.obolibrary.org/obo/MONDO_0009922		http://identifiers.org/omim/264500|MESH:C564864|UMLS:C1849648
MONDO:0009921	holoprosencephaly-postaxial polydactyly syndrome	biolink:Disease	mondo	UMLS:C1849649|OMIM:264480|SCTID:716091000|ICD10:Q87.8|GARD:0000344|NCIT:C125418|Orphanet:2166|MESH:C535829	ordo_malformation_syndrome	pseudo-trisomy 13 syndrome|holoprosencephaly polydactyly syndrome|holoprosencephaly-polydactyly syndrome|Young-Maders syndrome|PSEUDOTRISOMY 13 syndrome|pseudo trisomy 13 syndrome	http://purl.obolibrary.org/obo/MONDO_0009921	Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13.	http://identifiers.org/omim/264480|ORPHA:2166|SNOMEDCT:716091000|MESH:C535829|UMLS:C1849649|NCIT:C125418
MONDO:0010910	ENUR1	biolink:Disease	mondo	OMIM:600631		Bedwetting|enuresis, nocturnal, 1; ENUR1|ENUR1|enuresis, nocturnal, 1	http://purl.obolibrary.org/obo/MONDO_0010910	Nocturnal enuresis with at least 3 nightly episodes in children older than 7 years, where the child has always had the disorder.	http://identifiers.org/omim/600631
MONDO:0009920	Acrootoocular syndrome	biolink:Disease	mondo	MESH:C564866|Orphanet:2980|SCTID:720410001|UMLS:C1849661|OMIM:264475|ICD10:Q87.0	ordo_malformation_syndrome	pseudopapilledema-blepharophimosis-hand anomalies syndrome|Aoo syndrome|acrootoocular syndrome|pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies	http://purl.obolibrary.org/obo/MONDO_0009920	Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies.	ORPHA:2980|SNOMEDCT:720410001|MESH:C564866|UMLS:C1849661|http://identifiers.org/omim/264475
MONDO:0010912	fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement	biolink:Disease	mondo	UMLS:C2748801|MESH:C567572|OMIM:600638		congenital fibrosis of extraocular muscles caused by mutation in TUBB3|fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement; CFEOM3A|CFEOM3A|fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement|Feom3 locus|TUBB3 congenital fibrosis of extraocular muscles	http://purl.obolibrary.org/obo/MONDO_0010912	Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the TUBB3 gene.	UMLS:C2748801|http://identifiers.org/omim/600638|MESH:C567572
MONDO:0010911	prolactin-producing pituitary gland adenoma	biolink:Disease	mondo	EFO:1000496|GARD:0004508|NCIT:C3342|MESH:D015175|ICD10:D35.2|DOID:5394|MedDRA:10036832|ICD10:E22.1|ICDO:8271/0|SCTID:134209002|Orphanet:2965|UMLS:C0033375|OMIM:600634	ordo_disease	pituitary gland prolactinoma|familial prolactinoma|prolactin secreting pituitary gland adenoma|prolactin-secreting pituitary adenoma|lactotroph adenoma|lactotrope adenoma|prolactin-producing pituitary gland adenoma|Forbes-Albright syndrome (formerly)|prolactin secreting pituitary adenoma|pituitary adenoma, prolactin-secreting|PRL producing pituitary gland adenoma|prolactinoma of the pituitary gland|prolactin secreting adenoma|prolactin producing pituitary gland adenoma|prolactin producing adenoma of the pituitary gland|prolactinoma of the pituitary|prolactin producing adenoma of pituitary gland|prolactin producing pituitary adenoma|prolactin producing adenoma of the pituitary|prolactinoma of pituitary|prolactin producing adenoma of pituitary|prolactin secreting adenoma of the pituitary gland|pituitary lactotrophic adenoma|prolactin secreting adenoma of pituitary gland|prolactinoma|prolactin secreting adenoma of the pituitary|prolactin secreting adenoma of pituitary|lactotroph cell adenoma|pituitary prolactinoma|prolactinoma, familial|PRL-secreting pituitary adenoma|PRLoma|prolactinoma of pituitary gland	http://purl.obolibrary.org/obo/MONDO_0010911	Prolactinoma is a usually benign neoplasm of the pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men.	MEDDRA:10036832|ORPHA:2965|SNOMEDCT:134209002|UMLS:C0033375|MESH:D015175|NCIT:C3342|http://identifiers.org/omim/600634|DOID:5394
MONDO:0010914	carnitine palmitoyl transferase II deficiency, severe infantile form	biolink:Disease	mondo	Orphanet:228305|MESH:C563462|OMIM:600649|UMLS:C1833511|ICD10:E71.3	ordo_clinical_subtype	Carnitine Palmitoyltransferase 2 deficiency, hepatocardiomuscular|Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form|Carnitine Palmitoyltransferase 2 deficiency with hypoketotic hypoglycemia|CPT 2 deficiency, hepatic|Cpt2 deficiency, infantile|Carnitine Palmitoyltransferase 2 deficiency, infantile|CPTII, hepatocardiomuscular form|CPTII, severe infantile form|CARNITINE PALMITOYLTRANSFERASE II deficiency, infantile|Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form|CPT2, hepatocardiomuscular form|Carnitine palmitoyl transferase deficiency type 2, severe infantile form|CPT2, severe infantile form	http://purl.obolibrary.org/obo/MONDO_0010914	The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.	http://identifiers.org/omim/600649|MESH:C563462|ORPHA:228305|UMLS:C1833511
MONDO:0010913	Caroli disease	biolink:Disease	mondo	DOID:0050876|MedDRA:10013003|UMLS:C1833541|SCTID:717232005|ICD10:Q44.6|EFO:1001286|UMLS:C0162510|MESH:D016767|NCIT:C84619|GARD:0006002|OMIM:600643|Orphanet:53035	ordo_malformation_syndrome|gard_rare	CAROLI disease, isolated|cystic dilatation of the intrahepatic biliary tree|Caroli disease isolated|congenital polycystic dilatation of intrahepatic bile ducts	http://purl.obolibrary.org/obo/MONDO_0010913	Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts.	SNOMEDCT:717232005|http://identifiers.org/omim/600643|UMLS:C0162510|DOID:0050876|ORPHA:53035|MEDDRA:10013003|NCIT:C84619|MESH:D016767|MESH:C531647|UMLS:C1833541
MONDO:0010916	polycystic kidney disease 3 with or without polycystic liver disease	biolink:Disease	mondo	OMIM:600666|DOID:0110860|UMLS:C3887964		polycystic kidney disease type 3|Apkd3|polycystic kidney disease 3, autosomal dominant; PKD3|Pkd3|autosomal dominant polycystic kidney disease caused by mutation in GANAB|polycystic kidney disease 3, autosomal dominant|polycystic kidney disease 3|PKD3|polycystic kidney disease, adult, type 3|polycystic kidney disease, adult, type III|polycystic kidney disease, type 3|GANAB autosomal dominant polycystic kidney disease|polycystic kidney disease 3 with or without polycystic liver disease; PKD3	http://purl.obolibrary.org/obo/MONDO_0010916	Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the GANAB gene.	http://identifiers.org/omim/600666|UMLS:C3887964|DOID:0110860
MONDO:0010915	autosomal dominant nonsyndromic deafness 4A	biolink:Disease	mondo	MESH:C563460|OMIM:600652|UMLS:C1833503|ICD10:H90.3|DOID:0110573		DFNA4A|deafness, autosomal dominant 4|autosomal dominant nonsyndromic deafness type 4A|MYH14 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 4A|deafness, autosomal dominant type 4A|deafness, autosomal dominant 4A; DFNA4A|autosomal dominant deafness 4A|autosomal dominant nonsyndromic deafness caused by mutation in MYH14	http://purl.obolibrary.org/obo/MONDO_0010915	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH14 gene.	http://identifiers.org/omim/600652|DOID:0110573|MESH:C563460|UMLS:C1833503
UBERON:0004141	heart tube	biolink:AnatomicalEntity	mondo			endocardial heart tube|endocardial tube|embryonic heart tube	http://purl.obolibrary.org/obo/UBERON_0004141	An epithelial tube that will give rise to the mature heart.	
UBERON:0004142	outflow tract septum	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004142	The outflow tract septum is a partition in the outflow tract	
UBERON:0004140	primary heart field	biolink:AnatomicalEntity	mondo			primary heart field|FHF|first heart field|heart field|PHF	http://purl.obolibrary.org/obo/UBERON_0004140	A specific region of the lateral mesoderm that will form the primary beating heart tube. In mammals the primary heart field gives rise to the left ventricle.	
HGNC:4976	HLCS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4976		
HP:0100806	Sepsis	biolink:PhenotypicFeature	mondo	UMLS:C0036690|MSH:D018805		Infection in blood stream	http://purl.obolibrary.org/obo/HP_0100806	Systemic inflammatory response to infection.	
HGNC:2312	CPN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2312		
UBERON:0004148	cardiac vein	biolink:AnatomicalEntity	mondo			coronary vein|heart vein|coronary vein|vein of heart|cardiac vein	http://purl.obolibrary.org/obo/UBERON_0004148	Vein of heart that drains the myocardium	
UBERON:0004145	outflow tract	biolink:AnatomicalEntity	mondo			cardiac outflow tract|arterial (outflow) pole|heart outflow tract	http://purl.obolibrary.org/obo/UBERON_0004145	The outflow tract is the portion of the heart through which blood flows into the arteries	
HP:0002493	Upper motor neuron dysfunction	biolink:PhenotypicFeature	mondo	UMLS:C1839042|UMLS:C1504405		Pyramidal tract dysfunction|Corticospinal tract dysfunction	http://purl.obolibrary.org/obo/HP_0002493	A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs.	
MONDO:0009919	peroxisomal acyl-CoA oxidase deficiency	biolink:Disease	mondo	Orphanet:2971|OMIM:264470|GARD:0004543|ICD10:E71.3|SCTID:238069004|MESH:C536662|DOID:0050797|UMLS:C1849678|ICD9:255.41	ordo_disease	Pseudoneonatal adrenoleukodystrophy|peroxisomal acyl-coenzyme A oxidase|pseudo-NALD|straight-chain acyl-Coa oxidase deficiency|peroxisomal acyl-CoA oxidase deficiency|Pseudoadrenoleukodystrophy|pseudo-neonatal adrenoleukodystrophy	http://purl.obolibrary.org/obo/MONDO_0009919	Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.	UMLS:C1849678|http://identifiers.org/omim/264470|SNOMEDCT:238069004|ORPHA:2971|DOID:0050797|MESH:C536662|UMLS:C0342871
UBERON:0004146	His-Purkinje system	biolink:AnatomicalEntity	mondo			HPS|His-Purkinji network	http://purl.obolibrary.org/obo/UBERON_0004146	The His-Purkinje system receives signals from the AV node and is composed of the fibers that regulate cardiac muscle contraction in the ventricles	
MONDO:0010907	familial hypertryptophanemia	biolink:Disease	mondo	Orphanet:2224|DOID:0111703|UMLS:C2931837|SCTID:721838005|OMIM:600627|GARD:0002871|UMLS:C1833562|ICD10:E70.8|MESH:C538393	ordo_disease|gard_rare	hypertryptophanemia|HYPTRP|hypertryptophanemia, familial|hypertryptophanemia; HYPTRP	http://purl.obolibrary.org/obo/MONDO_0010907	Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.	ORPHA:2224|MESH:C538393|UMLS:C1833562|http://identifiers.org/omim/600627|DOID:0111703|SNOMEDCT:721838005|UMLS:C2931837
MONDO:0009939	pulmonic stenosis and congenital nephrosis	biolink:Disease	mondo	SCTID:236530006|OMIM:265600|MESH:C562895|UMLS:C0403552		pulmonic stenosis and congenital nephrosis	http://purl.obolibrary.org/obo/MONDO_0009939		http://identifiers.org/omim/265600|MESH:C562895|SNOMEDCT:236530006|UMLS:C0403552
MONDO:0010906	orofacial cleft 11	biolink:Disease	mondo	OMIM:600625|UMLS:C2677434|DOID:0080404		orofacial cleft caused by mutation in BMP4|cleft Lip, congenital Healed|orofacial cleft type 11|congenital Healed cleft lip|orofacial cleft 11|BMP4 orofacial cleft|orofacial cleft 11; OFC11|OFC11|cleft lip with or without cleft palate, nonsyndromic, 11	http://purl.obolibrary.org/obo/MONDO_0010906	Any orofacial cleft in which the cause of the disease is a mutation in the BMP4 gene.	UMLS:C2677434|http://identifiers.org/omim/600625|DOID:0080404
MONDO:0010909	UV-sensitive syndrome 1	biolink:Disease	mondo	OMIM:600630|UMLS:C3551173		UVSS1|UV-sensitive syndrome type 1|UV-sensitive syndrome 1|ERCC6 UV-sensitive syndrome|UV-sensitive syndrome 1; UVSS1|UV-sensitive syndrome caused by mutation in ERCC6	http://purl.obolibrary.org/obo/MONDO_0010909	Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC6 gene.	http://identifiers.org/omim/600630|UMLS:C3551173
MONDO:0009938	pulmonic stenosis (disease)	biolink:Disease	mondo	OMIM:265500|GARD:0010071|UMLS:C1956257|HP:0001642		valvular pulmonic stenosis|pulmonic stenosis|pulmonary stenosis	http://purl.obolibrary.org/obo/MONDO_0009938		UMLS:C1956257|http://identifiers.org/omim/265500
MONDO:0009937	pulmonary venoocclusive disease	biolink:Disease	mondo	SCTID:89420002|MedDRA:10037458|UMLS:C0034091|ICD9:416.8|OMIMPS:265450|Orphanet:31837|GARD:0010153|NCIT:C85039|DOID:5453|MESH:D011668	gard_rare|prototype_pattern|ordo_disease	PVOD|pulmonary veno-occlusive disease|obstructive disease of the pulmonary veins	http://purl.obolibrary.org/obo/MONDO_0009937	A disorder characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension.	MEDDRA:10037458|DOID:5453|SNOMEDCT:89420002|ORPHA:31837|MESH:D011668|NCIT:C85039|UMLS:C0034091
MONDO:0010908	loose anagen syndrome	biolink:Disease	mondo	MESH:D058247|ICD10:L65.1|ICD9:704.8|GARD:0003287|SCTID:238735005|DOID:0111702|Orphanet:168|OMIM:600628|UMLS:C0406468	ordo_disease	loose anagen hair syndrome	http://purl.obolibrary.org/obo/MONDO_0010908	Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma.	UMLS:C0406468|http://identifiers.org/omim/600628|ORPHA:168|DOID:0111702|SNOMEDCT:238735005|MESH:D058247
MONDO:0009936	familial primary pulmonary hypoplasia	biolink:Disease	mondo	Orphanet:2257|ICD9:748.5|SCTID:277656005|ICD10:Q33.6|UMLS:CN226916|OMIM:265430	ordo_malformation_syndrome	pulmonary hypoplasia, primary|lung agenesis|primary pulmonary hypoplasia	http://purl.obolibrary.org/obo/MONDO_0009936	Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congential malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life.	ORPHA:2257|UMLS:CN226916|SNOMEDCT:277656005|http://identifiers.org/omim/265430
MONDO:0009935	pulmonary hypertension, primary, autosomal recessive	biolink:Disease	mondo	OMIM:265400|MESH:C564862|UMLS:C1849552		pulmonary hypertension, primary, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009935		MESH:C564862|UMLS:C1849552|http://identifiers.org/omim/265400
MONDO:0009934	congenital alveolar capillary dysplasia	biolink:Disease	mondo	MESH:C536590|ICD9:747.83|NCIT:C98809|EFO:1001103|Orphanet:210122|MESH:D010547|COHD:197970|ICD9:747.49|ICD10:P29.3|OMIM:265380|UMLS:C0031190|GARD:0008644|DOID:13042|MedDRA:10054726|SCTID:447275002	ordo_disease|gard_rare	alveolar capillary dysplasia|ACDMPV|alveolar capillary dysplasia with misalignment of pulmonary veins and Other congenital anomalies|congenital alveolar capillary dysplasia with misalignment of pulmonary veins|familial persistent pulmonary hypertension of the newborn|alveolar capillary dysplasia with misalignment of pulmonary vessels|fetal circulation|persistent fetal circulation|pulmonary hypertension, familial persistent of the newborn|alveolar capillary dysplasia with misalignment of pulmonary veins|alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies|congenital alveolar capillary dysplasia|persistent fetal circulation syndrome|persistent fetal circulation syndrome|alveolar capillary dysplasia with pulmonary venous misalignment|persistent pulmonary hypertension of the newborn|alveolar capillary dysplasia with misalignment of pulmonary veins; ACDMPV	http://purl.obolibrary.org/obo/MONDO_0009934	Congenital alveolar capillary dysplasia (ACD) is a rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.	UMLS:C0031190|SNOMEDCT:447275002|DOID:13042|MESH:C536590|ORPHA:210122|MESH:D010547|NCIT:C98809|http://identifiers.org/omim/265380
MONDO:0009933	congenital pulmonary lymphangiectasia	biolink:Disease	mondo	NCIT:C99034|UMLS:C1849554|GARD:0009900|ICD10:Q33.8|SCTID:45142002|OMIM:265300|Orphanet:2414|MESH:C537727	gard_rare|ordo_disease	lymphangiomatosis pulmonary|lymphangiectasia pulmonary congenital|pulmonary lymphangiomatosis|pulmonary cystic lymphangiectasis|lymphangiectasia, pulmonary, congenital; CPL|congenital pulmonary lymphangiectasis|lymphangiomatosis, pulmonary|lymphangiectasia, pulmonary, congenital|CPL	http://purl.obolibrary.org/obo/MONDO_0009933	Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation.	SNOMEDCT:45142002|ORPHA:2414|MESH:C537727|NCIT:C99034|UMLS:C0265800|UMLS:C1849554|http://identifiers.org/omim/265300
MONDO:0009932	pulmonary bullae causing pneumothorax	biolink:Disease	mondo	OMIM:265200|MESH:C564863|UMLS:C1849566		pulmonary bullae causing pneumothorax	http://purl.obolibrary.org/obo/MONDO_0009932		MESH:C564863|UMLS:C1849566|http://identifiers.org/omim/265200
MONDO:0009931	pulmonary atresia-intact ventricular septum syndrome	biolink:Disease	mondo	ICD10:Q22.6|Orphanet:1208|OMIM:265150|NCIT:C99032|UMLS:C0344975|SCTID:253590009|GARD:0004600|MESH:C562832	ordo_morphological_anomaly	pulmonary atresia with intact ventricular septum|pulmonary valve atresia with intact ventricular septum	http://purl.obolibrary.org/obo/MONDO_0009931	Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. PA-IVS presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation.	ORPHA:1208|SNOMEDCT:253590009|UMLS:C0344975|NCIT:C99032|http://identifiers.org/omim/265150|MESH:C562832
HGNC:4979	MNX1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4979		
MONDO:0010901	HEC syndrome	biolink:Disease	mondo	MESH:C535855|GARD:0002620|OMIM:600559|Orphanet:2119|SCTID:721015008|UMLS:C1833607|ICD10:Q87.8	gard_rare|ordo_malformation_syndrome	HEC syndrome|communicating hydrocephalus, endocardial fibroelastosis (EFE) and congenital cataracts|hydrocephalus, endocardial fibroelastosis, and cataracts|hydrocephalus-endocardial fibroelastosis-cataract syndrome	http://purl.obolibrary.org/obo/MONDO_0010901	HEC syndrome is characterised by communicating hydrocephalus, endocardial fibroelastosis (EFE), and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The aetiology of the syndrome is unknown but a viral or genetic origin has been proposed.	http://identifiers.org/omim/600559|SNOMEDCT:721015008|MESH:C535855|ORPHA:2119|UMLS:C1833607
MONDO:0009930	pulmonary arteriovenous malformation (disease)	biolink:Disease	mondo	OMIM:265140|UMLS:C0155675|MedDRA:10037332|ICD10:Q25.7|GARD:0004584|SCTID:303070000|Orphanet:2038|HP:0006548|COHD:4119302|NCIT:C99029|MESH:C562404	ordo_morphological_anomaly	pulmonar arteriovenous aneurysm|pulmonary arteriovenous fistula|arteriovenous fistula of pulmonary vessels|pulmonary arteriovenous fistulas|pulmonary AV fistula|pulmonary arteriovenous malformation|pulmonary arterio-veinous fistula|PAVM	http://purl.obolibrary.org/obo/MONDO_0009930	Pulmonary arteriovenous malformation (PAVM) describes an anatomic communication between a pulmonary artery and a pulmonary vein leading to a right to left extracardiac shunt that can be asymptomatic or can lead to varying manifestations such as dyspnea, hemoptysis, and neurological symptoms.	NCIT:C99029|UMLS:C0155675|MESH:C562404|http://identifiers.org/omim/265140|SNOMEDCT:303070000|MEDDRA:10037332|ORPHA:2038
MONDO:0010900	intrauterine growth retardation with increased mitomycin c sensitivity	biolink:Disease	mondo	MESH:C536744|GARD:0005593|OMIM:600546	gard_rare	intrauterine growth retardation with increased mitomycin c sensitivity	http://purl.obolibrary.org/obo/MONDO_0010900		http://identifiers.org/omim/600546|MESH:C536744
MONDO:0010903	craniosynostosis, Adelaide type	biolink:Disease	mondo	MESH:C563471|OMIM:600593|UMLS:C1833578		CRSA|craniosynostosis, Adelaide type; CRSA|craniosynostosis, Adelaide type	http://purl.obolibrary.org/obo/MONDO_0010903		UMLS:C1833578|http://identifiers.org/omim/600593|MESH:C563471
MONDO:0010902	spondyloepiphyseal dysplasia, Reardon type	biolink:Disease	mondo	OMIM:600561|Orphanet:163662|UMLS:C1833603|MESH:C563472|SCTID:718764004|ICD10:Q77.7	ordo_disease	spondyloepiphyseal dysplasia with atlantoaxial instability	http://purl.obolibrary.org/obo/MONDO_0010902	Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process.	UMLS:C1833603|http://identifiers.org/omim/600561|ORPHA:163662|MESH:C563472|SNOMEDCT:718764004
MONDO:0010905	cone-rod dystrophy 1	biolink:Disease	mondo	MESH:C563469|UMLS:C1833564|GARD:0010651|DOID:0111009|OMIM:600624	gard_rare	cone-rod dystrophy type 1|cone-rod dystrophy 1; CORD1|Crd1|CORD1|cone-rod dystrophy 1|CRD1	http://purl.obolibrary.org/obo/MONDO_0010905		UMLS:C1833564|http://identifiers.org/omim/600624|DOID:0111009|MESH:C563469
MONDO:0010904	setting-Sun phenomenon, familial benign	biolink:Disease	mondo	OMIM:600598|MESH:C563470|UMLS:C1833577		setting-Sun phenomenon, familial benign	http://purl.obolibrary.org/obo/MONDO_0010904		UMLS:C1833577|http://identifiers.org/omim/600598|MESH:C563470
UBERON:0004133	salivatory nucleus	biolink:AnatomicalEntity	mondo			salivary nucleus	http://purl.obolibrary.org/obo/UBERON_0004133	.	
HGNC:4982	HMBS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4982		
UBERON:0004130	cerebellar layer	biolink:AnatomicalEntity	mondo			layer of cerebellar cortex|cell layer of cerebellar cortex|layer of cerebellum|cytoarchitectural part of the cerebellar cortex|gray matter layer of cerebellum	http://purl.obolibrary.org/obo/UBERON_0004130	A cortical cell layer of the cerebellum. Examples: the granular (inner+outer) layer, molecular layer, Purkinje cell layer, and the ventricular layer of the embryo.	
HGNC:19857	ISCA2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19857		
UBERON:0004139	cardiogenic plate	biolink:AnatomicalEntity	mondo			myocardial plate|cardiac crescent|cardiogenic crescent|heart rudiment	http://purl.obolibrary.org/obo/UBERON_0004139	The first recognizable structure derived from the heart field	
HGNC:2323	CPS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2323		
UBERON:0004136	intermediate tubule	biolink:AnatomicalEntity	mondo			tubulus attenuatus|renal intermediate tubule	http://purl.obolibrary.org/obo/UBERON_0004136	The intermediate tubule is a nephron tubule that lies between the proximal and distal tubules	
UBERON:0006799	glandular epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006799	An epithelium that is composed primarily of secretory cells.	
HGNC:2321	CPOX	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2321		
UBERON:0004134	proximal tubule	biolink:AnatomicalEntity	mondo			kidney proximal tubule|proximal kidney tubule|renal proximal tubule	http://purl.obolibrary.org/obo/UBERON_0004134	In mammals, the proximal tubule is a nephron tubule that connects Bowman's capsule to the loop of Henle. It has a brush border epithelial morphology[GO].	
UBERON:0004135	distal tubule	biolink:AnatomicalEntity	mondo			renal distal tubule|kidney distal tubule	http://purl.obolibrary.org/obo/UBERON_0004135	The distal tubule is a nephron tubule that consists of the distal convoluted tubule and distal straight tubule segments	
MONDO:0009907	Prepapillary vascular loops	biolink:Disease	mondo	OMIM:264060|SCTID:424728002|MESH:C563287		Prepapillary vascular loops|preretinal vascular loops	http://purl.obolibrary.org/obo/MONDO_0009907		MESH:C563287|http://identifiers.org/omim/264060|SNOMEDCT:424728002
MONDO:0009906	prenatal bowing	biolink:Disease	mondo	MESH:C564873|OMIM:264050		prenatal bowing	http://purl.obolibrary.org/obo/MONDO_0009906		MESH:C564873|http://identifiers.org/omim/264050
MONDO:0009905	urban-Rogers-Meyer syndrome	biolink:Disease	mondo	GARD:0005426|SCTID:716334004|UMLS:C0796189|MESH:C538276|OMIM:264010|ICD10:Q87.8|Orphanet:3409	ordo_malformation_syndrome	intellectual disability-short stature-hand contractures-genital anomalies syndrome|Prader-Willi habitus, osteopenia, and camptodactyly|urban-Rogers-Meyer syndrome|Prader-Willi habitus-osteopenia-camptodactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0009905	This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity.	http://identifiers.org/omim/264010|UMLS:C0796189|ORPHA:3409|MESH:C538276|SNOMEDCT:716334004
MONDO:0009904	Gitelman syndrome	biolink:Disease	mondo	OMIM:263800|MESH:D053579|DOID:0050450|SCTID:707756004|ICD9:275.49|NCIT:C84730|UMLS:C0268450|MedDRA:10062906|ICD10:N15.8|GARD:0008547|Orphanet:358	ordo_disease|gard_rare	GTLMNS|Gitelman syndrome; GTLMNS|Gitelman syndrome|Gitelman's syndrome|primary renal tubular hypokalemic hypomagnesemia with hypocalciuria|hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria|Potassium and magnesium depletion|familial hypokalemia-hypomagnesemia	http://purl.obolibrary.org/obo/MONDO_0009904	Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion.	MEDDRA:10062906|NCIT:C84730|UMLS:C0268450|SNOMEDCT:707756004|http://identifiers.org/omim/263800|DOID:0050450|ORPHA:358|MESH:D053579
MONDO:0009903	postaxial acrofacial dysostosis	biolink:Disease	mondo	DOID:0111259|ICD9:759.89|OMIM:263750|MESH:C537680|GARD:0008410|SCTID:66038001|Orphanet:246|UMLS:C0265257|ICD10:Q75.4	ordo_malformation_syndrome	Mandibulfacial dysostosis with postaxial limb anomalies|Genee-Wiedemann syndrome|Wildervanck-Smith syndrome|POADS|postaxial acrofacial dysostosis|postaxial acrodysostosis|GWAFD|acrofacial dysostosis, Genee-Wiedmann type|Genee-Wiedemann acrofacial dysostosis|POADS syndrome|postaxial acrofacial dysostosis (POADS) syndrome|Miller syndrome|postaxial acrofacial dysostosis; POADS	http://purl.obolibrary.org/obo/MONDO_0009903	Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia.	http://identifiers.org/omim/263750|ORPHA:246|MESH:C537680|UMLS:C0265257|SNOMEDCT:66038001|DOID:0111259
MONDO:0009902	cutaneous porphyria	biolink:Disease	mondo	SCTID:67312003|GARD:0004446|MESH:D017092|Orphanet:79277|OMIM:263700|DOID:13271|NCIT:C84697|ICD10:E80.0	ordo_disease	uroporphyrinogen 3 synthase deficiency|Gunther disease|congenital porphyria|Uros deficiency|CEP|porphyria, congenital erythropoietic|congenital erythropoietic porphyria|erythropoietic porphyria|uroporphyrinogen III synthase, deficiency of|Günther disease|Cep	http://purl.obolibrary.org/obo/MONDO_0009902	Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis.	SNOMEDCT:67312003|MESH:D017092|NCIT:C84697|http://identifiers.org/omim/263700|DOID:13271|ORPHA:79277
MONDO:0009901	Bartsocas-Papas syndrome	biolink:Disease	mondo	GARD:0004436|OMIM:263650|UMLS:C1849718|ICD10:Q87.2|Orphanet:1234|MESH:C564874|SCTID:722376008	ordo_malformation_syndrome	lethal popliteal pterygium syndrome|multiple pterygium syndrome, Aslan type|pterygium popliteal lethal type|autosomal recessive popliteal pterygium syndrome|Bartsocas Papas syndrome|BPS|popliteal pterygium syndrome lethal type|popliteal pterygium syndrome, Bartsocas-Papas type|pterygium, popliteal, lethal type|Bartsocas-Papas syndrome|popliteal pterygium syndrome, lethal type	http://purl.obolibrary.org/obo/MONDO_0009901	Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.	UMLS:C1849718|http://identifiers.org/omim/263650|ORPHA:1234|SNOMEDCT:722376008|MESH:C564874
HGNC:2328	CPT1A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2328		
MONDO:0009900	polysyndactyly-cardiac malformation syndrome	biolink:Disease	mondo	Orphanet:2934|ICD10:Q87.8|GARD:0004428|UMLS:C1849719|MESH:C564875|OMIM:263630|SCTID:724066002	ordo_malformation_syndrome	polysyndactyly cardiac malformation|polysyndactyly with CARDIAC malformation|Bonneau syndrome	http://purl.obolibrary.org/obo/MONDO_0009900	Polysyndactyly-cardiac malformation syndrome is characterized by polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts).	UMLS:C1849719|SNOMEDCT:724066002|http://identifiers.org/omim/263630|ORPHA:2934|MESH:C564875
UBERON:0004121	ectoderm-derived structure	biolink:AnatomicalEntity	mondo			ectodermal deriviative	http://purl.obolibrary.org/obo/UBERON_0004121	An anatomical structure that develops (entirely or partially) from the ectoderm.	
UBERON:0004122	genitourinary system	biolink:AnatomicalEntity	mondo			urogenital tract|UG tract|genitourinary tract|Urogenitalsystem|genito-urinary system|GU tract|urogenital system	http://purl.obolibrary.org/obo/UBERON_0004122	Anatomical system that has as its parts the organs concerned with the production and excretion of urine and those concerned with reproduction.	
HP:0002475	Myelomeningocele	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:203994003|Fyler:4309|SNOMEDCT_US:414667000|UMLS:C0025312|MSH:D008591		Spina bifida cystica|Meningomyelocele	http://purl.obolibrary.org/obo/HP_0002475	Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.	
UBERON:0004120	mesoderm-derived structure	biolink:AnatomicalEntity	mondo			mesodermal derivative	http://purl.obolibrary.org/obo/UBERON_0004120	An anatomical structure that develops (entirely or partially) from the mesoderm.	
HGNC:20800	SLC35D1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20800		
HGNC:2336	CR2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2336		
UBERON:0004128	optic vesicle	biolink:AnatomicalEntity	mondo			optic vesicles|evagination|eye vesicle|ocular vesicle	http://purl.obolibrary.org/obo/UBERON_0004128	The optic vesicle is the evagination of neurectoderm that precedes formation of the optic cup[GO]. Portion of tissue that is comprised of neuroepitheium which has pinched off from the anterior neural keel and will form the optic cup[ZFA].	
HGNC:2334	CR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2334		
UBERON:0004126	trabecular layer of ventricle	biolink:AnatomicalEntity	mondo			ventricular trabecular myocardium|trabecular cardiac ventricle muscle|myocardium of region of ventricle	http://purl.obolibrary.org/obo/UBERON_0004126	A myocardium trabecular layer that is part of a cardiac ventricle.	
UBERON:0004123	myocardial layer	biolink:AnatomicalEntity	mondo			layer of myocardium|myocardium layer	http://purl.obolibrary.org/obo/UBERON_0004123	Any of the layers of the myocardium. Example: compact layer, trabecular layer.	
HGNC:2330	CPT2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2330		
UBERON:0004124	myocardium trabecular layer	biolink:AnatomicalEntity	mondo			heart muscle trabeculae|trabecular layer|myocardial trabecular layer|trabeculae|heart muscle trabecula|myocardial trabeculae carneae|trabecula of heart muscle	http://purl.obolibrary.org/obo/UBERON_0004124	The layer of the myocardium composed of projections of contractile myocytes. The trabecular layer is bounded internally by the endocardium. In zebrafish, unlike the trabeculations of higher vertebrates, both atrial and ventricular trabeculae have more strut-like character, and are more uniform without apparent regional differences[ZFA].	
MONDO:0009918	fundus dystrophy, pseudoinflammatory, recessive form	biolink:Disease	mondo	GARD:0009633|UMLS:C1849694|MESH:C535828|OMIM:264420		Pfd, Lavia type|pseudoinflammatory fundus dystrophy|Pfd, Finnish type|PFD Lavia type|fundus dystrophy, pseudoinflammatory recessive form|fundus dystrophy, pseudoinflammatory, recessive form	http://purl.obolibrary.org/obo/MONDO_0009918		UMLS:C1849694|http://identifiers.org/omim/264420|MESH:C535828
MONDO:0009917	autosomal recessive pseudohypoaldosteronism type 1	biolink:Disease	mondo	ICD10:N25.8|GARD:0004552|DOID:0060854|Orphanet:171876|OMIM:264350	gard_rare|ordo_clinical_subtype	pseudohypoaldosteronism, type I, autosomal recessive; PHA1B|pseudohypoaldosteronism type 1 autosomal recessive|PHA1B|pseudohypoaldosteronism, type I, autosomal recessive|autosomal recessive PHA 1|pseudohypoaldosteronism type 1, recessive|PHA I, autosomal recessive|generalized pseudohypoaldosteronism type 1|generalized PHA1|autosomal recessive pseudohypoaldosteronism type 1	http://purl.obolibrary.org/obo/MONDO_0009917	Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs.	DOID:0060854|http://identifiers.org/omim/264350|ORPHA:171876
MONDO:0009916	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency	biolink:Disease	mondo	NCIT:C120203|OMIM:264300|MESH:C564868|ICD10:E29.1|MESH:C537805|Orphanet:752|SCTID:50658006|GARD:0005659	ordo_disease	Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency|17-KSR deficiency|17-ketoreductase deficiency|neutral 17 beta hydroxysteroid oxidoreductase deficiency|17-beta hydroxysteroid dehydrogenase 3 deficiency|pseudohermaphroditism, Male, with gynecomastia|17-beta-hydroxysteroid dehydrogenase 3 deficiency|17 beta hydroxysteroid dehydrogenase III deficiency|17-ketosteroid reductase deficiency of testis|17-Beta hydroxysteroid dehydrogenase 3 deficiency|neutral 17-Beta-hydroxysteroid oxidoreductase deficiency|polycystic ovary syndrome due to 17-ketosteroid reductase deficiency|17 alpha KSR deficiency|Male pseudoherma-phroditism with gynecomastia|polycystic ovarian disease due to 17-ketosteroid reductase deficiency|17 Beta HSD3 deficiency|17-BETA hydroxysteroid dehydrogenase III deficiency|17 beta HSD3 deficiency|17-ketosteroidreductase deficiency|17 alpha ketosteroid reductase deficiency of testis	http://purl.obolibrary.org/obo/MONDO_0009916	Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production.	UMLS:C0268296|http://identifiers.org/omim/264300|NCIT:C120203|MESH:C537805|ORPHA:752|SNOMEDCT:50658006|MESH:C564868
MONDO:0009915	46,XX disorder of sex development-skeletal anomalies syndrome	biolink:Disease	mondo	MESH:C564869|ICD10:Q56.2|UMLS:C1849696|OMIM:264270|Orphanet:2975	ordo_malformation_syndrome	pseudohermaphroditism, female, with skeletal anomalies|female pseudohermaphroditism-skeletal anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0009915		UMLS:C1849696|http://identifiers.org/omim/264270|ORPHA:2975|MESH:C564869
MONDO:0009914	pseudodiastrophic dysplasia	biolink:Disease	mondo	MESH:C535826|Orphanet:85174|ICD10:Q78.8|GARD:0009463|ICD9:756.9|UMLS:C0432206|SCTID:254058002|OMIM:264180	ordo_malformation_syndrome|gard_rare	Pseudodiastrophic dwarfism|pseudodiastrophic dysplasia	http://purl.obolibrary.org/obo/MONDO_0009914	Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy.	http://identifiers.org/omim/264180|ORPHA:85174|SNOMEDCT:254058002|UMLS:C0432206|MESH:C535826
MONDO:0009913	prune belly syndrome with pulmonic stenosis, mental retardation, and deafness	biolink:Disease	mondo	SCTID:236529001|MESH:C562894|UMLS:C0403551|OMIM:264140		prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness|prune belly syndrome with pulmonic stenosis, mental retardation, and deafness	http://purl.obolibrary.org/obo/MONDO_0009913		SNOMEDCT:236529001|http://identifiers.org/omim/264140|MESH:C562894|UMLS:C0403551
MONDO:0009912	prolactin deficiency with obesity and enlarged testes	biolink:Disease	mondo	OMIM:264120|UMLS:C1849698|MESH:C564870		prolactin deficiency with obesity and enlarged testes|PRL deficiency with obesity and enlarged testes	http://purl.obolibrary.org/obo/MONDO_0009912		http://identifiers.org/omim/264120|MESH:C564870|UMLS:C1849698
CHEBI:57934	psychosine(1+)	biolink:ChemicalSubstance	mondo			(2S,3R,4E)-1-(beta-D-galactopyranosyloxy)-3-hydroxyoctadec-4-en-2-aminium|(2S,3R,4E)-3-hydroxy-1-{[(2R,3R,4S,5R,6R)-3,4,5-trihydroxy-6-(hydroxymethyl)oxan-2-yl]oxy}octadec-4-en-2-aminium|beta-D-galactosyl-(1<->1)-sphing-4-enine	http://purl.obolibrary.org/obo/CHEBI_57934	The ammonium ion resulting from the protonation of the amino group of psychosine.	
MONDO:0009911	prolactin deficiency, isolated	biolink:Disease	mondo	SCTID:67873006|ICD9:253.4|OMIM:264110|MESH:C562708		prolactin deficiency, isolated	http://purl.obolibrary.org/obo/MONDO_0009911		MESH:C562708|http://identifiers.org/omim/264110|SNOMEDCT:67873006
MONDO:0009910	Wiedemann-Rautenstrauch syndrome	biolink:Disease	mondo	GARD:0000330|NCIT:C121565|ICD10:E34.8|MESH:C536423|ICD9:259.8|UMLS:C0406586|OMIM:264090|Orphanet:3455|SCTID:238874008	ordo_malformation_syndrome	neonatal progeroid syndrome|Wiedemann-Rautenstrauch syndrome|progeroid syndrome, neonatal|progeroid syndrome neonatal|Wiedemann Rautenstrauch syndrome	http://purl.obolibrary.org/obo/MONDO_0009910	Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism.	ORPHA:3455|UMLS:C0406586|SNOMEDCT:238874008|NCIT:C121565|MESH:C536423|http://identifiers.org/omim/264090
HGNC:2340	CRADD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2340		
UBERON:0004111	anatomical conduit	biolink:AnatomicalEntity	mondo			foramen|ostia|opening|foramina|ostium	http://purl.obolibrary.org/obo/UBERON_0004111	Any tube, opening or passage that connects two distinct anatomical spaces.	
HP:0002486	Myotonia	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:3434004|UMLS:C0027125|MSH:D009222		Delayed relaxation of muscle fibers after contraction	http://purl.obolibrary.org/obo/HP_0002486	An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.	
NCBITaxon:66360	Cochliomyia	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_66360		
UBERON:0004118	vasculature of iris	biolink:AnatomicalEntity	mondo			iris blood vessels|iris vasculature|iris vascular network|vascular network of iris	http://purl.obolibrary.org/obo/UBERON_0004118	A vasculature that is part of a iris [Automatically generated definition].	
ECTO:0002002	steroid exposure	biolink:OntologyClass	mondo			exposure to steroid	http://purl.obolibrary.org/obo/ECTO_0002002	An exposure to steroid.	
HGNC:2348	CREBBP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2348		
UBERON:0004119	endoderm-derived structure	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004119	An anatomical structure that develops (entirely or partially) from the endoderm.	
UBERON:0004116	nerve of tympanic cavity	biolink:AnatomicalEntity	mondo			middle ear anatomical cavity nerve|nerve of middle ear cavity|middle ear cavity nerve|cavity of middle ear nerve|nerve of anatomical cavity of middle ear|tympanic cavity nerves|nerve of middle ear anatomical cavity|tympanic cavity nerve|anatomical cavity of middle ear nerve|nerve of cavity of middle ear	http://purl.obolibrary.org/obo/UBERON_0004116	A nerve that is part of a tympanic cavity [Automatically generated definition].	
CHEBI:18367	phosphate(3-)	biolink:ChemicalSubstance	mondo			Orthophosphate|PHOSPHATE ION|tetraoxophosphate(3-)|tetraoxophosphate(V)|phosphate|tetraoxidophosphate(3-)|Phosphate|PO4(3-)|[PO4](3-)	http://purl.obolibrary.org/obo/CHEBI_18367	A phosphate ion that is the conjugate base of hydrogenphosphate.	
UBERON:0004117	pharyngeal pouch	biolink:AnatomicalEntity	mondo			pharyngeal pouches|visceral pouch|visceral pouches|branchial pouch	http://purl.obolibrary.org/obo/UBERON_0004117	An internal pocketing of pharyngeal endoderm that contacts a region of ectoderm (a pharyngeal cleft) and interdigitates in the anterior and posterior directions with the pharyngeal arches.	
HGNC:2345	CREB1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2345		
UBERON:0004114	tympanic cavity	biolink:AnatomicalEntity	mondo			cavity of middle ear|cavitas tympani|middle-ear cavity|tympanum|anatomical cavity of middle ear|cavitas tympanica|middle ear cavity	http://purl.obolibrary.org/obo/UBERON_0004114	small cavity surrounding the bones of the middle ear.	
UBERON:0004115	blood vessel of tympanic cavity	biolink:AnatomicalEntity	mondo			blood vessel of middle ear cavity|anatomical cavity of middle ear blood vessel|tympanic cavity blood vessel|blood vessel of middle ear anatomical cavity|blood vessel of anatomical cavity of middle ear|cavity of middle ear blood vessel|middle ear cavity blood vessel|middle ear blood vessel|blood vessel of cavity of middle ear|middle ear anatomical cavity blood vessel	http://purl.obolibrary.org/obo/UBERON_0004115	A blood vessel that is part of a tympanic cavity [Automatically generated definition].	
HGNC:2343	CRB1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2343		
MONDO:0009909	progesterone resistance	biolink:Disease	mondo	OMIM:264080|UMLS:C1849699|MESH:C564871		progesterone resistance|pseudocorpus luteum insufficiency	http://purl.obolibrary.org/obo/MONDO_0009909		MESH:C564871|UMLS:C1849699|http://identifiers.org/omim/264080
UBERON:0004113	muscle of auditory ossicle	biolink:AnatomicalEntity	mondo			tympanic cavity muscle|muscle of middle ear|ossicular muscle|muscle of tympanic cavity|muscle of auditory ossicles|auditory ossicles muscle	http://purl.obolibrary.org/obo/UBERON_0004113	A muscle of the tympanic cavity that attaches to an auditory ossicle.	
MONDO:0009908	dehydratase deficiency	biolink:Disease	mondo	ICD9:277.6|GARD:0002843|MESH:C538382|Orphanet:1578|OMIM:264070|ICD10:E70.1|SCTID:124646004	ordo_clinical_subtype	pterin-4 alpha-carbinolamine dehydratase deficiency|CADH deficiency|hyperphenylalaninemia due to dehydratase deficiency|PCBD deficiency|hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency|hyperphenylalaninemia, BH4-deficient, D; HPABH4D|hyperphenylalaninemia, Bh4-deficient, type D|hyperphenylalaninemia, BH4-deficient, D|tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency|hyperphenylalaninemia with primapterinuria|HPABH4D|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-Alpha-carbinolamine dehydratase deficiency	http://purl.obolibrary.org/obo/MONDO_0009908	Dehydratase deficiency or pterin-4 alpha-carbinolamine dehydratase (PCD) is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency, characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. PCD is inherited in an autosomal recessive manner.	http://identifiers.org/omim/264070|MESH:C538382|SNOMEDCT:124646004|ORPHA:1578
MONDO:0007308	Charcot-Marie-Tooth disease type 2A1	biolink:Disease	mondo	MESH:C566138|GARD:0001248|OMIM:118210|ICD10:G60.0|Orphanet:99946|SCTID:717016001|NCIT:C134952|DOID:0110154	ordo_disease|prototype_pattern|gard_rare	Charcot-Marie-Tooth neuropathy type 2A1|Charcot-Marie-Tooth disease, axonal, type 2A1|hereditary motor and sensory neuropathy IIA1|CMT2A1|Charcot-Marie-Tooth disease type 2A|Charcot-Marie-Tooth disease, neuronal, type 2A|CMT2A|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A1|hereditary motor and sensory neuropathy 2 A|HMSN IIa1|Charcot-Marie-Tooth disease, axonal, type 2A|CMT 2A|Charcot-Marie-Tooth neuropathy, type 2A1|Charcot Marie Tooth disease type 2A|Charcot-Marie-Tooth disease neuronal type 2A1|autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1|KIF1B Charcot-Marie-Tooth disease type 2|autosomal dominant Charcot-Marie-Tooth disease type 2A1|HMSN2A1|hereditary motor and sensory neuropathy IIa1|HMSN IIA|HMSN2A1|Charcot-Marie-Tooth disease type 2 caused by mutation in KIF1B|HMSN IIA1|Charcot-Marie-Tooth disease, axonal, type 2A1; CMT2A1|Charcot-Marie-Tooth disease, neuronal, type 2A1	http://purl.obolibrary.org/obo/MONDO_0007308	Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor.	MESH:C566138|ORPHA:99946|NCIT:C134952|SNOMEDCT:717016001|DOID:0110154|http://identifiers.org/omim/118210
MONDO:0007309	Charcot-Marie-Tooth disease type 1A	biolink:Disease	mondo	ICD10:G60.0|GARD:0001245|OMIM:118220|DOID:0110148|NCIT:C75468|Orphanet:101081|UMLS:C0270911	gard_rare|ordo_disease	CMT1A|Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1A|Charcot-Marie-Tooth neuropathy, type 1A|CMT 1A|Charcot Marie Tooth disease type 1A|autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A|Charcot-Marie-Tooth disease, demyelinating, type 1A; CMT1A|HMSN1A|HMSN 1A|Charcot-Marie-Tooth disease, demyelinating, type 1A|hereditary motor and sensory neuropathy 1A|microduplication 17p12|Charcot-Marie-Tooth neuropathy type 1A|HMSN1A	http://purl.obolibrary.org/obo/MONDO_0007309	Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications.	UMLS:C0270911|NCIT:C75468|http://identifiers.org/omim/118220|DOID:0110148|ORPHA:101081
MONDO:0007306	Klippel-Feil syndrome 1, autosomal dominant	biolink:Disease	mondo	UMLS:C1861689|MESH:C536887|OMIM:118100|DOID:0080589		cervical vertebral fusion, autosomal dominant|KFS1|isolated Klippel-Feil syndrome caused by mutation in GDF6|GDF6 isolated Klippel-Feil syndrome|Klippel-Feil syndrome 1, autosomal dominant|Kfs|Klippel-FEIL syndrome 1, autosomal dominant; KFS1	http://purl.obolibrary.org/obo/MONDO_0007306	Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF6 gene.	UMLS:C1861689|DOID:0080589|http://identifiers.org/omim/118100|MESH:C536887
MONDO:0009969	renal-genital-middle ear anomalies	biolink:Disease	mondo	GARD:0004664|Orphanet:1092|MESH:C564849|OMIM:267400|ICD10:Q87.8|UMLS:C1849432	ordo_malformation_syndrome|gard_rare	renal genital middle ear anomalies|renal, genital, and middle EAR anomalies	http://purl.obolibrary.org/obo/MONDO_0009969		http://identifiers.org/omim/267400|UMLS:C1849432|MESH:C564849|ORPHA:1092
MONDO:0009968	renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss	biolink:Disease	mondo	OMIM:267300|ICD9:588.89|ICD9:389.8|GARD:0004666|UMLS:C4302514|Orphanet:93611|MESH:C562897|SCTID:722468005|UMLS:C0403554|SCTID:236532003		AR dRTA wth deafness|autosomal recessive distal renal tubular acidosis with hearing loss|renal tubular acidosis with deafness|AR dRTA with hearing loss|renal tubular acidosis type 1b|autosomal recessive distal renal tubular acidosis with deafness|RTA with progressive nerve deafness|renal tubular acidosis, distal, with progressive nerve deafness|renal tubular acidosis progressive nerve deafness|renal tubular acidosis with progressive nerve deafness|renal tubular acidosis, autosomal recessive, with progressive nerve deafness|distal renal tubular acidosis co-occurrent with sensorineural deafness	http://purl.obolibrary.org/obo/MONDO_0009968		UMLS:C0403554|UMLS:C4302514|http://identifiers.org/omim/267300|MESH:C562897|ORPHA:93611|SNOMEDCT:236532003|SNOMEDCT:722468005
MONDO:0007307	Charcot-Marie-Tooth disease type 1B	biolink:Disease	mondo	Orphanet:101082|NCIT:C118782|OMIM:118200|UMLS:C0270912|ICD10:G60.0|GARD:0001246|DOID:0110152	ordo_disease	hereditary motor and sensory neuropathy 1|Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1B|Charcot-Marie-Tooth neuropathy, type 1B|CMT 1B|Charcot Marie Tooth disease type 1B|Charcot-Marie-Tooth neuropathy type 1B|HMSN IB|Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy|hereditary motor and sensory neuropathy IB|Charcot-Marie-Tooth disease, demyelinating, type 1B|Charcot-Marie-Tooth disease, demyelinating, type 1B; CMT1B|MPZ Charcot-Marie-Tooth disease type 1|HMSN 1B|HMSN1B|HMSN1|hereditary motor and sensory neuropathy 1B|CMT1B|Charcot-Marie-Tooth disease, slow nerve conduction type, linked to Duffy|peroneal muscular atrophy|HMSN1B|Charcot-Marie-Tooth disease type 1 caused by mutation in MPZ|autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B	http://purl.obolibrary.org/obo/MONDO_0007307	A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized.	NCIT:C118782|UMLS:C0270912|DOID:0110152|http://identifiers.org/omim/118200|ORPHA:101082
MONDO:0022940	obsolete deafness hyperuricemia neurologic ataxia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0022940		
MONDO:0009967	renal tubular acidosis 3	biolink:Disease	mondo	OMIM:267200|GARD:0004670|MESH:C537759		RTA, dislocation type|renal tubular acidosis type 3|RTA, bicarbonate-wasting type|renal tubular acidosis III|bicarbonate-wasting RTA|renal tubular acidosis, distal, type 3	http://purl.obolibrary.org/obo/MONDO_0009967		MESH:C537759|http://identifiers.org/omim/267200
MONDO:0022941	deafness hypospadias metacarpal and metatarsal syndrome	biolink:Disease	mondo	GARD:0001692	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022941		
MONDO:0007304	cervical vertebral Bridge	biolink:Disease	mondo	OMIM:118000		cervical vertebral Bridge	http://purl.obolibrary.org/obo/MONDO_0007304		http://identifiers.org/omim/118000
MONDO:0009966	NPHP3-related Meckel-like syndrome	biolink:Disease	mondo	ICD10:Q61.9|MESH:C537756|DOID:0070121|GARD:0004665|UMLS:C2673885|Orphanet:3032|OMIM:267010|PMID:18371931	ordo_malformation_syndrome|gard_rare	Meckel syndrome, type 7; MKS7|NPHP3-related Meckel-like syndrome|Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia|renal-hepatic-pancreatic dysplasia with Dandy-Walker cyst|Meckel syndrome 7|Meckel syndrome type 7|Meckel-Gruber syndrome, type 7|Meckel-like syndrome type 1|renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome|MKS7|Goldston syndrome|Meckel syndrome, type 7	http://purl.obolibrary.org/obo/MONDO_0009966		MESH:C537756|http://identifiers.org/omim/267010|UMLS:C2673885|DOID:0070121|ORPHA:3032
MONDO:0007305	cervical vertebral dysplasia (disease)	biolink:Disease	mondo	OMIM:118005|MESH:C566140|HP:0008469|UMLS:C1861693		cervical vertebral dysplasia	http://purl.obolibrary.org/obo/MONDO_0007305		MESH:C566140|UMLS:C1861693|http://identifiers.org/omim/118005
MONDO:0022942	deafness mesenteric diverticula of small bowel neuropathy	biolink:Disease	mondo	GARD:0001693	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022942		
MONDO:0007302	cervical hypertrichosis with underlying kyphoscoliosis	biolink:Disease	mondo	OMIM:117850|UMLS:C1861695|MESH:C566142		cervical hypertrichosis with underlying kyphoscoliosis|hypertrichosis, posterior cervical, with underlying kyphoscoliosis	http://purl.obolibrary.org/obo/MONDO_0007302		UMLS:C1861695|http://identifiers.org/omim/117850|MESH:C566142
MONDO:0009965	Perlman syndrome	biolink:Disease	mondo	NCIT:C103144|ICD10:Q87.3|MESH:C536399|UMLS:C0796113|DOID:0060476|SCTID:722231005|OMIM:267000|GARD:0003936|Orphanet:2849	gard_rare|ordo_malformation_syndrome	nephroblastomatosis fetal ascites macrosomia and Wilms tumor|nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor|PRLMNS|nephroblastomatosis, fetal ascites, macrosomia, and Wilms tumor|renal hamartomas, nephroblastomatosis, and fetal gigantism|Perlman syndrome|Perlman syndrome; PRLMNS|nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor|renal hamartomas, nephroblastomatosis and fetal gigantism|nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome	http://purl.obolibrary.org/obo/MONDO_0009965	Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.	MESH:C536399|http://identifiers.org/omim/267000|DOID:0060476|UMLS:C0796113|SNOMEDCT:722231005|NCIT:C103144|ORPHA:2849
MONDO:0010954	Wiskott-Aldrich syndrome, autosomal dominant form	biolink:Disease	mondo	OMIM:600903|UMLS:C1833170|MESH:C563431		Wiskott-Aldrich syndrome, autosomal dominant form	http://purl.obolibrary.org/obo/MONDO_0010954		MESH:C563431|UMLS:C1833170|http://identifiers.org/omim/600903
MONDO:0009964	short-rib thoracic dysplasia 9 with or without polydactyly	biolink:Disease	mondo	GARD:0008600|Orphanet:140969|OMIM:266920|SCTID:254092004|ICD9:759.89|ICD10:Q87.5|DOID:0110097	ordo_disease	renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia|renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome|SRTD9|Conorenal syndrome|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia|Saldino-Mainzer syndrome|short-rib thoracic dysplasia 9 with or without polydactyly|short-rib thoracic dysplasia 9 with or without polydactyly; SRTD9|Mainzer-Saldino syndrome|Mainzer Saldino syndrome	http://purl.obolibrary.org/obo/MONDO_0009964	An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.	DOID:0110097|MESH:C535463|UMLS:C1849437|http://identifiers.org/omim/266920|SNOMEDCT:254092004|ORPHA:140969
MONDO:0007303	cervical rib disease	biolink:Disease	mondo	ICD9:756.2|HP:0000891|NCIT:C158329|MedDRA:10008301|MESH:D002573|COHD:79144|OMIM:117900|SCTID:72535009|EFO:1000861		cervical rib|cervical rib syndrome	http://purl.obolibrary.org/obo/MONDO_0007303	A rib that is attached to a cervical vertebra or enlarged transverse processes.	NCIT:C158329|SNOMEDCT:72535009|http://identifiers.org/omim/117900|MESH:D002573
MONDO:0010953	Fanconi anemia complementation group E	biolink:Disease	mondo	DOID:0111084|NCIT:C125709|UMLS:C3160739|OMIM:600901		FANCE Fanconi anemia|Fanconi anemia, complementation group E|Fanconi anemia complementation group type E|Fanconi anemia, complementation group E; FANCE|FANCE|face|Fanconi Anemia, complementation group type E|Fanconi anemia caused by mutation in FANCE	http://purl.obolibrary.org/obo/MONDO_0010953	Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.	NCIT:C125709|UMLS:C3160739|http://identifiers.org/omim/600901|DOID:0111084
UBERON:0004180	mammary gland fat	biolink:AnatomicalEntity	mondo			lobe of breast fatty tissue|fat tissue of lactiferous gland|mammary gland adipose tissue|adipose tissue of lactiferous gland|lactiferous gland fatty tissue|fatty tissue of lobe of mammary gland|lobe of mammary gland adipose tissue|mammary gland fat tissue|fatty tissue of mammary gland|lobe of mammary gland fat tissue|lobe of breast adipose tissue|fat tissue of lobe of mammary gland|fat tissue of mammary gland|fat tissue of lobe of breast|mammary gland fatty tissue|lobe of mammary gland fatty tissue|lobe of breast fat tissue|adipose tissue of mammary gland|fatty tissue of lactiferous gland|lactiferous gland adipose tissue|lactiferous gland fat tissue|fatty tissue of lobe of breast	http://purl.obolibrary.org/obo/UBERON_0004180	The mammary fat is an adipose structure in the gland that is invaded by the mammary ducts	
MONDO:0007300	cerebral sarcoma	biolink:Disease	mondo	UMLS:C1861714|GARD:0010073|MESH:C537946|OMIM:117600	gard_rare	telencephalon sarcoma|cerebral sarcoma|sarcoma of telencephalon	http://purl.obolibrary.org/obo/MONDO_0007300	A sarcoma involving a telencephalon.	MESH:C537946|http://identifiers.org/omim/117600|UMLS:C1861714
MONDO:0009963	Ulbright-Hodes syndrome	biolink:Disease	mondo	MESH:C537754|SCTID:719840003|OMIM:266910|ICD10:Q87.8|UMLS:C1849438|Orphanet:3404|GARD:0005394	ordo_malformation_syndrome	renal dysplasia-mesomelia-radiohumeral fusion syndrome|renal dysplasia-limb defects syndrome|renal dysplasia limb defects syndrome|Ulbright Hodes syndrome|RL syndrome|renal dysplasia, mesomelia, and radiohumeral fusion	http://purl.obolibrary.org/obo/MONDO_0009963	Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive.	UMLS:C1849438|http://identifiers.org/omim/266910|ORPHA:3404|SNOMEDCT:719840003|MESH:C537754
MONDO:0010956	enamel hypoplasia, cataracts, and aqueductal stenosis	biolink:Disease	mondo	OMIM:600907|UMLS:C1833163|GARD:0004801|MESH:C563430		enamel hypoplasia, capsular cataracts, and ductal stenosis|enamel hypoplasia, cataracts, and aqueductal stenosis|Seow Najjar syndrome	http://purl.obolibrary.org/obo/MONDO_0010956		MESH:C563430|UMLS:C1833163|http://identifiers.org/omim/600907
MONDO:0009962	Senior-Loken syndrome 1	biolink:Disease	mondo	ICD9:759.89|OMIM:266900|SCTID:236531005		SLSN1|Senior-Loken syndrome caused by mutation in NPHP1|juvenile nephronophthisis with Leber amaurosis|Senior-Loken syndrome 1|Senior-Loken syndrome|SENIOR-Loken syndrome 1; SLSN1|renal dysplasia and retinal aplasia|renal-retinal syndrome|Senior-Loken syndrome type 1|Loken-Senior syndrome|NPHP1 Senior-Loken syndrome	http://purl.obolibrary.org/obo/MONDO_0009962	Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene.	http://identifiers.org/omim/266900|SNOMEDCT:236531005
MONDO:0010955	ectodermal dysplasia with intellectual disability and syndactyly	biolink:Disease	mondo	OMIM:600906|UMLS:C1833169|GARD:0002052|MESH:C538018	clingen	ectodermal dysplasia intellectual disability syndactyly|ectodermal dysplasia mental retardation syndactyly|ectodermal dysplasia with mental retardation and syndactyly|ectodermal dysplasia with intellectual disability and syndactyly	http://purl.obolibrary.org/obo/MONDO_0010955		UMLS:C1833169|MESH:C538018|http://identifiers.org/omim/600906
MONDO:0007301	cerebrocostomandibular syndrome	biolink:Disease	mondo	UMLS:C0265342|DOID:0111248|ICD9:759.89|MESH:C562538|SCTID:51780007|Orphanet:1393|GARD:0006026|ICD10:Q87.8|OMIM:117650	ordo_malformation_syndrome	rib Gap defects with micrognathia|CCMS|cerebrocostomandibular syndrome|cerebro-costo-mandibular syndrome|CEREBROCOSTOMANDIBULAR syndrome; CCMS|CCM syndrome	http://purl.obolibrary.org/obo/MONDO_0007301	Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.	UMLS:C0265342|DOID:0111248|http://identifiers.org/omim/117650|MESH:C562538|SNOMEDCT:51780007|ORPHA:1393
MONDO:0010958	cardiac arrhythmia, ankyrin-B-related	biolink:Disease	mondo	DOID:0111701|OMIM:600919|DOID:0111700|SCTID:764457005|UMLS:C1970119|GARD:0010432		long QT syndrome 4|LQT4|cardiac arrhythmia, ankyrin-b-related|ankyrin-B syndrome	http://purl.obolibrary.org/obo/MONDO_0010958		UMLS:C1970119|SNOMEDCT:764457005|http://identifiers.org/omim/600919|DOID:0111701|DOID:0111700
MONDO:0009961	renal and mullerian duct hypoplasia	biolink:Disease	mondo	UMLS:C1849439|OMIM:266810|MESH:C564853		renal and mullerian duct hypoplasia	http://purl.obolibrary.org/obo/MONDO_0009961		UMLS:C1849439|MESH:C564853|http://identifiers.org/omim/266810
CHEBI:33958	halide salt	biolink:ChemicalSubstance	mondo			halide salts|halides	http://purl.obolibrary.org/obo/CHEBI_33958		
MONDO:0009960	inflammatory bowel disease 1	biolink:Disease	mondo	GARD:0009857|SCTID:34000006|DOID:0110892|ICD9:555.9|OMIM:266600		Crohn disease-associated Growth failure, susceptibility to|inflammatory bowel disease caused by mutation in NOD2|regional enteritis|IBD1|NOD2 inflammatory bowel disease|pediatric ulcerative colitis|inflammatory bowel disease (Crohn disease) 1|inflammatory bowel disease type 1|inflammatory bowel disease 1|inflammatory bowel disease 1; IBD1|inflammatory bowel disease (Crohn disease) 1; IBD1|ulcerative colitis, pediatric|Crohn disease|ulcerative colitis	http://purl.obolibrary.org/obo/MONDO_0009960	Any inflammatory bowel disease in which the cause of the disease is a mutation in the NOD2 gene.	DOID:0110892|http://identifiers.org/omim/266600|SNOMEDCT:34000006
MONDO:0010957	agonadism, 46,XY, with mental retardation, short stature, retarded bone age, and multiple extragenital malformations	biolink:Disease	mondo	UMLS:C1833162|OMIM:600908		agonadism, 46,XY, with mental retardation, short stature, retarded bone age, and multiple extragenital malformations|Kennerknecht syndrome|KENNERKNECHT syndrome|agonadism, 46,XY, with intellectual disability, short stature, retarded bone age, and multiple extragenital malformations	http://purl.obolibrary.org/obo/MONDO_0010957		UMLS:C1833162|http://identifiers.org/omim/600908
MONDO:0010959	van den Ende-Gupta syndrome	biolink:Disease	mondo	SCTID:719845008|DOID:0111699|MESH:C535909|ICD10:Q87.0|OMIM:600920|UMLS:C1833136|GARD:0003382|Orphanet:2460	ordo_malformation_syndrome	VAN DEN Ende-Gupta syndrome; VDEGS|Van den Ende Gupta syndrome|van den Ende-Gupta syndrome|VDEGS|blepharophimosis, arachnodactyly, and congenital contractures|Marden-Walker-like syndrome|Marden Walker like syndrome|Marden-Walker-like syndrome without psychomotor retardation|Marden Walker like syndrome without psychomotor retardation	http://purl.obolibrary.org/obo/MONDO_0010959	Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.	MESH:C535909|SNOMEDCT:719845008|UMLS:C1833136|ORPHA:2460|http://identifiers.org/omim/600920|DOID:0111699
UBERON:0004188	glomerular epithelium	biolink:AnatomicalEntity	mondo			kidney glomerular epithelium|glomerular epithelial cell|epithelium of kidney glomerulus|epithelium of glomerulus|epithelium of renal glomerulus	http://purl.obolibrary.org/obo/UBERON_0004188	The glomerular epithelium is an epithelial tissue that covers the outer surfaces of the glomerulus. The glomerular epithelium consists of both parietal and visceral epithelium. Metanephric glomerular parietal epithelial cells are specialized epithelial cells that form tight junctions as a barrier to protein transport. A metanephric glomerular visceral epithelial cell is a specialized epithelial cell that contains 'feet' that interdigitate with the 'feet' of other glomerular epithelial cells in the metanephros.	
UBERON:0004185	endodermal part of digestive tract	biolink:AnatomicalEntity	mondo			gut endoderm|endodermal gut	http://purl.obolibrary.org/obo/UBERON_0004185	A portions of the gut that is derived from endoderm.	
MONDO:0010961	obesity due to prohormone convertase I deficiency	biolink:Disease	mondo	MESH:C563423|Orphanet:71528|DOID:0111698|UMLS:C4302878|SCTID:722053001|UMLS:C1833053|ICD10:E66.8|OMIM:600955	ordo_disease	PCI deficiency|obesity and endocrinopathy due to impaired processing of prohormones|proprotein convertase 1/3 deficiency	http://purl.obolibrary.org/obo/MONDO_0010961	Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterised by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones.	SNOMEDCT:722053001|UMLS:C1833053|http://identifiers.org/omim/600955|DOID:0111698|ORPHA:71528|MESH:C563423|UMLS:C4302878
UBERON:0004184	prostate gland stroma	biolink:AnatomicalEntity	mondo			prostatic stroma|stroma of glandular part of prostate|stroma of prostate gland|stroma of prostate|prostate stroma	http://purl.obolibrary.org/obo/UBERON_0004184	The prostate gland stroma is made up of the mesenchymal or fibroblast cells of the prostate gland	
MONDO:0010960	protocadherin 3	biolink:Disease	mondo	OMIM:600931		Pcdh3|protocadherin type 3|protocadherin 3	http://purl.obolibrary.org/obo/MONDO_0010960		http://identifiers.org/omim/600931
MONDO:0010963	autosomal dominant nonsyndromic deafness 6	biolink:Disease	mondo	ICD10:H90.3|DOID:0110584|MESH:C563421|OMIM:600965|UMLS:C1833021		deafness, autosomal dominant 6|deafness, autosomal dominant type 6|autosomal dominant nonsyndromic deafness caused by mutation in WFS1|autosomal dominant deafness 6|deafness, autosomal dominant 6; DFNA6|DFNA6|deafness, autosomal dominant 38|deafness, autosomal dominant 14|autosomal dominant deafness 38|DFNA38|autosomal dominant nonsyndromic deafness type 6|autosomal dominant deafness 14|DFNA14|WFS1 autosomal dominant nonsyndromic deafness	http://purl.obolibrary.org/obo/MONDO_0010963	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the WFS1 gene.	UMLS:C1833021|http://identifiers.org/omim/600965|DOID:0110584|MESH:C563421
MONDO:0010962	diffuse nonepidermolytic palmoplantar keratoderma	biolink:Disease	mondo	Orphanet:530838|GARD:0005186|OMIM:600962|Orphanet:496	ordo_disease	Thost-Unna palmoplantar keratoderma|palmoplantar keratoderma, nonepidermolytic|nonepidermolytic palmoplantar keratoderma|diffuse NEPPK|diffuse nonepidermolytic palmoplantar keratoderma|palmoplantar keratoderma, nonepidermolytic; NEPPK|keratoderma, nonepidermolytic palmoplantar|PPK diffusa circumscripta|krt1-related diffuse nonepidermolytic keratoderma|PPKNE|Thost-Unna disease|NEPPK|tylosis|Unna-Thost palmoplantar keratoderma	http://purl.obolibrary.org/obo/MONDO_0010962		http://identifiers.org/omim/600962|ORPHA:496|ORPHA:530838
UBERON:0004182	mammary gland cord	biolink:AnatomicalEntity	mondo			mammary cord|mammary sprout|lactiferous gland cord	http://purl.obolibrary.org/obo/UBERON_0004182	The solid cord of epithelial cells that emerges from the mammary bud and grows down from the primary mammary mesenchyme and into a second stromal compartment, the fat pad precursor, beneath the dermis.	
MONDO:0022932	Davenport-Donlan syndrome	biolink:Disease	mondo	Orphanet:3215|MESH:C535988|UMLS:C2931076|GARD:0001672	gard_rare|n_of_one	Davenport Donlan syndrome|dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and depressed chemotaxis	http://purl.obolibrary.org/obo/MONDO_0022932	An n-of-1 disease characterized by hearing loss, almost white hair, a psoriasiform rash with hyperkaratotic papillomata, muscle contractures, and depressed granulocyte and monocyte chemotaxis, dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and muscle contractures, and depressed granulocyte and monocyte chemotaxis.	MESH:C535988|UMLS:C2931076|ORPHA:3215
MONDO:0022934	Davis Lafer syndrome	biolink:Disease	mondo	MESH:C535989|UMLS:C2931077|GARD:0001674	gard_rare	mental retardation unusual facies Davis Lafer type|Lafer Davis syndrome|intellectual disability unusual facies Davis Lafer type	http://purl.obolibrary.org/obo/MONDO_0022934		MESH:C535989|UMLS:C2931077
MONDO:0022936	de Hauwere Leroy adriaenssens syndrome	biolink:Disease	mondo	MESH:C535991|UMLS:C2931078		iris dysplasia, orbital hypertelorism, and psychomotor retardation	http://purl.obolibrary.org/obo/MONDO_0022936		MESH:C535991|UMLS:C2931078
MONDO:0022937	deafness conductive stapedial ear malformation facial palsy	biolink:Disease	mondo	GARD:0001684	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022937		
MONDO:0022938	deafness goiter stippled epiphyses	biolink:Disease	mondo	GARD:0001689	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022938		
UBERON:0004189	glomerular endothelium	biolink:AnatomicalEntity	mondo			endothelium of renal glomerulus|renal glomerulus endothelium	http://purl.obolibrary.org/obo/UBERON_0004189	The glomerular endothelium is an epithelial tissue that covers the internal surfaces of the glomerulus	
CHEBI:79314	flame retardant	biolink:ChemicalSubstance	mondo			flame retardants	http://purl.obolibrary.org/obo/CHEBI_79314	Any compound that is added to manufactured materials to inhibit, suppress, or delay the production of flames and so prevent the spread of fire.	
MONDO:0022939	obsolete deafness hyperuricemia neurologic ataxia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0022939		
HP:0100845	Anaphylactic shock	biolink:PhenotypicFeature	mondo	MSH:D000707|SNOMEDCT_US:39579001|UMLS:C0002792		Anaphylaxis	http://purl.obolibrary.org/obo/HP_0100845	An acute hypersensitivity reaction due to exposure to a previously encountered antigen.	
MONDO:0007319	familial calcium pyrophosphate deposition	biolink:Disease	mondo	GARD:0001292|ICD10:M11.1|Orphanet:1416|MESH:C563162|UMLS:CN199517|OMIM:118600	ordo_disease	calcium gout|chondrocalcinosis 2; CCAL2|familial articular chondrocalcinosis|chondrocalcinosis familial articular|calcium gout, familial|CCAL2|hereditary CC|calcium pyrophosphate arthropathy|calcium pyrophosphate dihydrate deposition disease|calcium pyrophosphate arthropathy, familial|hereditary articular chondrocalcinosis|familial CPPD|Pseudogout, familial|familial CC|chondrocalcinosis 2|chondrocalcinosis type 2|familial calcium pyrophosphate dihydrate deposition disease|calcium pyrophosphate dihydrate crystal deposition disease|hereditary calcium pyrophosphate deposition|chondrocalcinosis, familial articular|CPPDD	http://purl.obolibrary.org/obo/MONDO_0007319	Familial calcium pyrophosphate deposition (CPPD) is a chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA).	ORPHA:1416|http://identifiers.org/omim/118600|UMLS:CN199517|MESH:C563162
HP:0100851	Abnormal emotion/affect behavior	biolink:PhenotypicFeature	mondo	UMLS:C4020949		Abnormal emotion/affect behaviour	http://purl.obolibrary.org/obo/HP_0100851	An abnormality of emotional behaviour.	
HP:0100852	Abnormal fear/anxiety-related behavior	biolink:PhenotypicFeature	mondo	UMLS:C4018849		Abnormal fear/anxiety-related behaviour	http://purl.obolibrary.org/obo/HP_0100852	An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response.	
MONDO:0007317	chlorpropamide-alcohol flushing	biolink:Disease	mondo	UMLS:C1861630|OMIM:118430		CHLORPROPAMIDE-alcohol flushing; CPAF|chlorpropamide-alcohol flushing|CPAF	http://purl.obolibrary.org/obo/MONDO_0007317		UMLS:C1861630|http://identifiers.org/omim/118430
MONDO:0007318	Alagille syndrome	biolink:Disease	mondo	SCTID:31742004|GARD:0000804|Orphanet:52|ICD9:759.89|MESH:D016738|OMIMPS:118450|DOID:9245|UMLS:C0085280|MedDRA:10053870|ICD10:Q44.7|NCIT:C35139	ordo_malformation_syndrome	syndromic bile duct paucity|Arteriohepatic dysplasia|Hepatofacioneurocardiovertebral syndrome|paucity of interlobular bile ducts|Watson Alagille syndrome|hepatic ductular hypoplasia|Cardiovertebral syndrome|Alagille-Watson syndrome|Alagille syndrome|Watson-Miller syndrome	http://purl.obolibrary.org/obo/MONDO_0007318	Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.	MEDDRA:10053870|DOID:9245|ORPHA:52|SNOMEDCT:31742004|MESH:D016738|NCIT:C35139|UMLS:C0085280
MONDO:0009979	reticular dystrophy of the retinal pigment epithelium	biolink:Disease	mondo	Orphanet:99002|OMIM:267800|ICD10:H35.5|MESH:C564844	ordo_disease	retinal dystrophy, reticular pigmentary, of POSTERIOR POLE	http://purl.obolibrary.org/obo/MONDO_0009979	Reticular dystrophy of the retinal pigment epithelium is a patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. Reticular dystrophy of the retinal pigment epithelium is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris.	MESH:C564844|http://identifiers.org/omim/267800|ORPHA:99002
MONDO:0007315	cherubism	biolink:Disease	mondo	Orphanet:184|MedDRA:10070535|ICD9:526.89|UMLS:C0008029|OMIM:118400|GARD:0006036|ICD10:K10.8|DOID:1856|SCTID:76098004|NCIT:C84630|MESH:D002636|ICD10:M27.8	gard_rare|ordo_malformation_syndrome	CRBM|familial fibrous dysplasia of the jaws|familial multilocular cystic disease of the jaws|Crbm|cherubism	http://purl.obolibrary.org/obo/MONDO_0007315	Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases.	SNOMEDCT:76098004|http://identifiers.org/omim/118400|DOID:1856|NCIT:C84630|MESH:D002636|MEDDRA:10070535|UMLS:C0008029|ORPHA:184
MONDO:0009978	retinal degeneration-nanophthalmos-glaucoma syndrome	biolink:Disease	mondo	ICD10:H35.5|UMLS:C2931831|Orphanet:1574|MESH:C538364|GARD:0000395|OMIM:267760|SCTID:723503006	ordo_malformation_syndrome	Mackay-Shek-Carr syndrome|retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma|MacKay Shek Carr syndrome|retinal degeneration, nanophthalmos, glaucoma	http://purl.obolibrary.org/obo/MONDO_0009978	Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.	SNOMEDCT:723503006|http://identifiers.org/omim/267760|UMLS:C2931831|MESH:C538364|ORPHA:1574
MONDO:0022930	dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia	biolink:Disease	mondo	MESH:C538340|GARD:0000137|UMLS:C2931823	gard_rare	Aughton sloan Milad syndrome	http://purl.obolibrary.org/obo/MONDO_0022930		UMLS:C2931823|MESH:C538340
MONDO:0007316	Chiari malformation type I	biolink:Disease	mondo	ICD10:G95.0|MedDRA:10056944|Orphanet:268882|SCTID:253185002|OMIM:118420	ordo_morphological_anomaly	Chiari malformation type 1 with syringomyelia|Cm1 with syringomyelia|Chiari malformation type I|Arnold-Chiari malformation type 1|Chiari malformation type 1|Cm1|Arnold-Chiari malformation type I	http://purl.obolibrary.org/obo/MONDO_0007316	Arnold-Chiari malformation type I is a central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic.	ORPHA:268882|http://identifiers.org/omim/118420|UMLS:C0750929|SNOMEDCT:253185002|MEDDRA:10056944
MONDO:0009977	Knobloch syndrome	biolink:Disease	mondo	ICD9:759.89|UMLS:C1849409|GARD:0000380|MESH:C537209|OMIM:267750|SCTID:703542000|ICD10:Q15.8|Orphanet:1571	ordo_malformation_syndrome|gard_rare	KNO1|myopia retinal detachment encephalocele|retinal detachment-occipital encephalocele syndrome|Knobloch syndrome type 1|retinal detachment and occipital encephalocele|KNOBLOCH syndrome 1|KNOBLOCH syndrome 1; KNO1|Kno|Knobloch-Layer syndrome	http://purl.obolibrary.org/obo/MONDO_0009977	Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.	http://identifiers.org/omim/267750|UMLS:C1849409|SNOMEDCT:703542000|MESH:C537209|ORPHA:1571
MONDO:0007313	cheilitis glandularis	biolink:Disease	mondo	OMIM:118330|SCTID:26374003|UMLS:C0267034|Orphanet:1221|ICD10:K13.0|MESH:C535921|GARD:0000412	gard_rare|ordo_disease	cheilitis glandularis	http://purl.obolibrary.org/obo/MONDO_0007313	Cheilitis glandularis (CG) is an uncommon chronic inflammatory disease of unknown origin characterized by macrocheilia and secretions of thick saliva from swollen labial minor salivary glands.	http://identifiers.org/omim/118330|MESH:C535921|UMLS:C0267034|SNOMEDCT:26374003|ORPHA:1221
MONDO:0009976	retinal degeneration and epilepsy	biolink:Disease	mondo	MESH:C564847|UMLS:C1849416|OMIM:267740		retinal degeneration and epilepsy	http://purl.obolibrary.org/obo/MONDO_0009976		MESH:C564847|UMLS:C1849416|http://identifiers.org/omim/267740
MONDO:0010943	schizophrenia 4	biolink:Disease	mondo	OMIM:600850|UMLS:C1833247|DOID:0070080		schizophrenia type 4|schizophrenia susceptibility locus, chromosome 22Q11-related|SCZD4|schizophrenia 4; SCZD4|schizophrenia 4	http://purl.obolibrary.org/obo/MONDO_0010943	A schizophrenia that has material basis in an autosomal dominant mutation of PRODH on chromosome 22q11.21.	DOID:0070080|UMLS:C1833247|http://identifiers.org/omim/600850
MONDO:0007314	chemodectoma, intraabdominal, with cutaneous angiolipomas	biolink:Disease	mondo	UMLS:C2930928|GARD:0001265|MESH:C535552|OMIM:118350		chemodectoma, intraabdominal, with cutaneous angiolipomas|abdominal chemodectomas with cutaneous angiolipomas	http://purl.obolibrary.org/obo/MONDO_0007314		MESH:C535552|http://identifiers.org/omim/118350|UMLS:C2930928
MONDO:0009975	reticulum cell sarcoma	biolink:Disease	mondo	SCTID:373168002|ICD9:200.7|EFO:0005287|OMIM:267730|Orphanet:86900|MedDRA:10038804|ICD10:C96.4|NCIT:C27824|ICD9:200.00|ICD9:200.0|DOID:8538	ordo_disease	reticulosarcoma|reticular cell sarcoma|large-cell Lymphomas|Reticulum cell sarcoma|reticulum cell sarcoma|sarcoma of reticular cell|interdigitating cell sarcoma|histiocytic lymphoma	http://purl.obolibrary.org/obo/MONDO_0009975	An antiquated term that refers to a non-Hodgkin lymphoma composed of diffuse infiltrates of large, often anaplastic lymphocytes.	UMLS:C0024302|MESH:D054739|http://identifiers.org/omim/267730|NCIT:C27824|DOID:8538|UMLS:C1260326|MEDDRA:10038804|SNOMEDCT:373168002|ORPHA:86900
MONDO:0010942	obsolete eukaryotic translation elongation factor 1 alpha-1-like 14	biolink:Disease	mondo			eukaryotic translation elongation factor 1 ALPHA-1-like 14|eukaryotic translation elongation factor 1 ALPHA-1-like 14; EEF1A1L14|prostatic carcinoma tumor-inducing Gene 1|eukaryotic translation elongation Factor 1 Alpha-1-like type 14|EEF1A1L14	http://purl.obolibrary.org/obo/MONDO_0010942		
MONDO:0009974	familial hemophagocytic lymphohistiocytosis type 1	biolink:Disease	mondo	DOID:0110921|UMLS:C0272199|Orphanet:540|OMIM:267700|UMLS:CN205265|UMLS:CN034020|NCIT:C61276|MedDRA:10070904|ICD10:D76.1	ordo_disease|prototype_pattern	Hplh1|familial hemophagocytic lymphohistiocytosis 1|Hlh1|familial hemophagocytic lymphohistiocytosis type 1|HLH1|HPLH1|hemophagocytic reticulosis, familial|familial hemophagocytic lymphohistiocytosis|hemophagocytic lymphohistiocytosis, familial|familial HLH|Erythrophagocytic lymphohistiocytosis, familial|hemophagocytic lymphohistiocytosis, familial, 1; FHL1|FHL1|familial hemophagocytic lymphohistiocytosis|reticulosis, familial histiocytic|hemophagocytic lymphohistiocytosis, familial, 1	http://purl.obolibrary.org/obo/MONDO_0009974	Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth.	NCIT:C61276|DOID:0110921|UMLS:CN205265|http://identifiers.org/omim/267700|UMLS:CN034020|UMLS:C0272199|MEDDRA:10070904|ORPHA:540
MONDO:0007311	Charcot-Marie-Tooth disease type 1E	biolink:Disease	mondo	OMIM:118300|DOID:0110153|UMLS:C2931686|ICD10:G60.0|MESH:C537986|Orphanet:90658|GARD:0009190	ordo_disease	Charcot-Marie-Tooth disease demyelinating type 1E|Charcot-Marie-Tooth disease-deafness|CMT1E|Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant|Charcot-Marie-Tooth disease and deafness|CMT 1E|Charcot Marie Tooth disease type 1E|Charcot-Marie-Tooth disease, demyelinating, type 1E|autosomal dominant Charcot-Marie-Tooth neuropathy and deafness|Charcot-Marie-Tooth disease-deafness syndrome	http://purl.obolibrary.org/obo/MONDO_0007311	A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients.	DOID:0110153|http://identifiers.org/omim/118300|UMLS:C2931686|MESH:C538078|UMLS:C1861669|ORPHA:90658|MESH:C537986
MONDO:0010945	retinitis pigmentosa 17	biolink:Disease	mondo	MESH:C563437|OMIM:600852|ICD10:H35.5|UMLS:C1833245|GARD:0010387|DOID:0110404	gard_rare	CA4 retinitis pigmentosa|retinitis pigmentosa type 17|RP17|retinitis pigmentosa 17|retinitis pigmentosa caused by mutation in CA4|RP 17|retinitis pigmentosa 17; RP17	http://purl.obolibrary.org/obo/MONDO_0010945	Any retinitis pigmentosa in which the cause of the disease is a mutation in the CA4 gene.	DOID:0110404|MESH:C563437|UMLS:C1833245|http://identifiers.org/omim/600852
MONDO:0010944	mitochondrial import-stimulating factor	biolink:Disease	mondo	OMIM:600851		mitochondrial import-stimulating factor|MSF	http://purl.obolibrary.org/obo/MONDO_0010944		http://identifiers.org/omim/600851
MONDO:0007312	Charcot-Marie-Tooth disease with ptosis and parkinsonism	biolink:Disease	mondo	UMLS:C1861668|OMIM:118301|MESH:C538079		Charcot-Marie-Tooth disease with ptosis and parkinsonism	http://purl.obolibrary.org/obo/MONDO_0007312		http://identifiers.org/omim/118301|MESH:C538079|UMLS:C1861668
MONDO:0009973	reticular dysgenesis	biolink:Disease	mondo	GARD:0008625|DOID:0060020|NCIT:C27070|OMIM:267500|MESH:C538361|UMLS:C0272167|ICD10:D81.0|Orphanet:33355|SCTID:111584000	ordo_disease|gard_rare	DeVaal disease|RD|generalized hematopoietic hypoplasia|aleukocytosis|reticular Dysgenesia|hematopoietic hypoplasia, generalized|SCID with leukopenia|severe combined immunodeficiency with leukopenia|congenital aleukocytosis|De Vaal disease|AK2 deficiency|reticular dysgenesis|congenital Aleukia	http://purl.obolibrary.org/obo/MONDO_0009973	Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.	UMLS:C1282908|NCIT:C27070|http://identifiers.org/omim/267500|DOID:0060020|SNOMEDCT:111584000|UMLS:C0272167|ORPHA:33355|MESH:C538361
MONDO:0009972	respiratory underresponsiveness to hypoxia and hypercapnia	biolink:Disease	mondo	OMIM:267480|MESH:C564848		respiratory underresponsiveness to hypoxia and hypercapnia	http://purl.obolibrary.org/obo/MONDO_0009972		http://identifiers.org/omim/267480|MESH:C564848
MONDO:0010947	Budd-Chiari syndrome	biolink:Disease	mondo	ICD9:453.0|COHD:196715|SCTID:82385007|MESH:D006502|MedDRA:10006537|Orphanet:131|UMLS:C0856761|GARD:0005968|ICD10:I82.0|OMIM:600880	gard_rare|ordo_disease	membranous obstruction of the inferior vena cava|Budd-Chiari syndrome|membranous obstruction of Inferior vena cava|Budd-Chiari syndrome; BDCHS|BDCHS	http://purl.obolibrary.org/obo/MONDO_0010947	Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava.	MESH:D006502|SNOMEDCT:82385007|http://identifiers.org/omim/600880|MEDDRA:10006537|ORPHA:131|UMLS:C0856761
MONDO:0007310	Charcot-Marie-Tooth disease, Guadalajara neuronal type	biolink:Disease	mondo	UMLS:C1861673|OMIM:118230|MESH:C566137		Charcot-Marie-Tooth disease, Guadalajara neuronal type	http://purl.obolibrary.org/obo/MONDO_0007310		http://identifiers.org/omim/118230|MESH:C566137|UMLS:C1861673
MONDO:0009971	newborn respiratory distress syndrome	biolink:Disease	mondo	DOID:12716|NCIT:C27560|OMIM:267450|EFO:1000644|UMLS:C0020192|ICD10:P22.0|UMLS:C0035220|ICD9:769|SCTID:46775006|UMLS:C1968593|GARD:0000112|Orphanet:70587	gard_rare|ordo_disease	neonatal respiratory distress|NRDS|hyaline membrane disease|HMD - hyaline membrane disease|respiratory distress syndrome of newborn|infantile respiratory distress syndrome|respiratory distress syndrome|syndrome Of newborns (RDS), respiratory distress|pulmonary hyaline membrane disease|hyaline Membrane disease, formerly|respiratory distress syndrome Of newborns (RDS)|respiratory distress syndrome Of newborns|infant acute respiratory distress syndrome|respiratory distress syndrome, infant|RDS Of newborns|respiratory distress syndrome in premature infants|hyaline Membrane disease|RDS - infants|newborns (RDS), respiratory distress syndrome Of|infant ARDS|RDS of prematurity|infant acute respiratory distress syndrome|infant respiratory distress syndrome|RDS, respiratory distress syndrome Of newborns|RDS|neonatal respiratory distress syndrome|IRDS|pulmonary hypoperfusion syndrome of newborn|respiratory distress syndrome in the newborn	http://purl.obolibrary.org/obo/MONDO_0009971	Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts.	http://identifiers.org/omim/267450|UMLS:C0035220|NCIT:C27560|DOID:12716|ORPHA:70587|UMLS:C1968593|UMLS:C0020192|SNOMEDCT:46775006
MONDO:0010946	hypertrophic cardiomyopathy 6	biolink:Disease	mondo	DOID:0110312|OMIM:600858|MESH:C563436|UMLS:C1833236		hypertrophic cardiomyopathy caused by mutation in PRKAG2|cardiomyopathy, familial hypertrophic, type 6|cardiomyopathy, familial hypertrophic 6|cardiomyopathy, familial hypertrophic, 6; CMH6|hypertrophic cardiomyopathy type 6|CMH6|PRKAG2 hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, 6	http://purl.obolibrary.org/obo/MONDO_0010946	Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PRKAG2 gene.	DOID:0110312|MESH:C563436|UMLS:C1833236|http://identifiers.org/omim/600858
MONDO:0010949	Charcot-Marie-Tooth disease type 2B	biolink:Disease	mondo	ICD10:G60.0|OMIM:600882|UMLS:C1833219|GARD:0009192|DOID:0110159|SCTID:717008005|Orphanet:99936|MESH:C537989	gard_rare|ordo_disease	hereditary motor and sensory neuropathy 2 B (HMSN 2 B)|Charcot-Marie-Tooth disease, autosomal dominant, type 2B|CMT2B|Charcot-Marie-Tooth neuropathy, type 2B|HMSN2B|Charcot-Marie-Tooth disease type 2 caused by mutation in RAB7A|HMSN2B|hereditary motor and sensory nueropathy IIB|Charcot-Marie-Tooth disease, axonal, type 2B; CMT2B|Charcot-Marie-Tooth neuropathy type 2B|Charcot-Marie-Tooth disease, axonal, type 2B|RAB7A Charcot-Marie-Tooth disease type 2|peripheral sensory neuropathy, autosomal dominant (PSN)|hereditary motor and sensory neuropathy 2B|Charcot-Marie-Tooth disease, neuronal, type 2B|HMSN IIB|Charcot Marie Tooth disease type 2B|autosomal dominant Charcot-Marie-Tooth disease type 2B|CMT 2B	http://purl.obolibrary.org/obo/MONDO_0010949	Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.	MESH:C537989|DOID:0110159|SNOMEDCT:717008005|UMLS:C1833219|ORPHA:99936|http://identifiers.org/omim/600882
MONDO:0009970	renal tubular dysgenesis of genetic origin	biolink:Disease	mondo	ICD10:Q63.8|Orphanet:97369|OMIM:267430	ordo_etiological_subtype	renal tubular dysgenesis|renal tubular dysgenesis; RTD|RTD|primitive renal tubule syndrome|renal tubular dysgenesis with choanal atresia and athelia|genetic renal tubular dysgenesis	http://purl.obolibrary.org/obo/MONDO_0009970	An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome.	http://identifiers.org/omim/267430|ORPHA:97369
MONDO:0010948	cataract 10 multiple types	biolink:Disease	mondo	OMIM:600881|UMLS:C1833229|DOID:0110258|MESH:C563435|ICD10:Q12.0		cataract, congenital zonular, with sutural opacities|early-onset non-syndromic cataract caused by mutation in CRYBA1|congenital zonular cataract with sutural opacities|CCZS|CRYBA1 early-onset non-syndromic cataract|cataract 10, multiple types; CTRCT10|cataract 10, multiple types|CTRCT10	http://purl.obolibrary.org/obo/MONDO_0010948	Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA1 gene.	DOID:0110258|MESH:C563435|UMLS:C1833229|http://identifiers.org/omim/600881
UBERON:0004176	external genitalia	biolink:AnatomicalEntity	mondo			external reproductive organ|external sex organ|external genitalia	http://purl.obolibrary.org/obo/UBERON_0004176	The external genitalia are the outer sex organs, such as the penis or vulva in mammals	
UBERON:0004177	hemopoietic organ	biolink:AnatomicalEntity	mondo			hematopoeitic organ|organ of haemopoietic system|lymph organ|organa haemopoietica organ|haemopoietic system organ|hematopoietic system organ|lymphoid organ|organ of haematological system|organ of organa haemopoietica|hematopoeitic or lymphoid organ|organ of hematopoietic system|haematological system organ	http://purl.obolibrary.org/obo/UBERON_0004177	Organ that is part of the hematopoietic system.	
UBERON:0004175	internal genitalia	biolink:AnatomicalEntity	mondo			internal sex organ|internal reproductive organ|internal genitalia|internal genitals	http://purl.obolibrary.org/obo/UBERON_0004175	The internal genitalia are the internal sex organs such as the uterine tube, the uterus and the vagina in female mammals, and the testis, seminal vesicle, ejaculatory duct and prostate in male mammals	
MONDO:0010950	type 1 diabetes mellitus 8	biolink:Disease	mondo	OMIM:600883|MESH:C563433|DOID:0110747|ICD10:E10|UMLS:C1833218		insulin-dependent diabetes mellitus 8|diabetes mellitus, insulin-dependent, 8; IDDM8|diabetes mellitus, insulin-dependent, 8|IDDM8	http://purl.obolibrary.org/obo/MONDO_0010950	A type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 6q25-q27.	UMLS:C1833218|http://identifiers.org/omim/600883|DOID:0110747|MESH:C563433
MONDO:0010952	hereditary hyperferritinemia with congenital cataracts	biolink:Disease	mondo	ICD10:H26.0|DOID:0111256|OMIM:600886|GARD:0002806|ICD9:289.89|ICD9:366.44|UMLS:C1833213|MESH:C538137|SCTID:702398007|Orphanet:163	ordo_disease	hereditary hyperferritinemia cataract syndrome|hyperferritinemia-cataract syndrome|Bonneau-Beaumont syndrome|HRFTC|cataract-hyperferritinemia syndrome|HHCS|hereditary hyperferritinemia-cataract syndrome|hyperferritinemia cataract syndrome|hyperferritinemia with or without cataract|hyperferritinemia with or without cataract; HRFTC|hyperferritinemia, hereditary, with congenital cataracts	http://purl.obolibrary.org/obo/MONDO_0010952	Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.	UMLS:C1833213|MESH:C538137|SNOMEDCT:702398007|ORPHA:163|http://identifiers.org/omim/600886|DOID:0111256
MONDO:0010951	dilated cardiomyopathy 1B	biolink:Disease	mondo	DOID:0110443|ICD10:I42.0|OMIM:600884		CMD1B|cardiomyopathy, dilated, 1B|dilated cardiomyopathy type 1B|CMD1B|cardiomyopathy, familial dilated, 1|cardiomyopathy, familial dilated|cardiomyopathy, dilated, 1B; CMD1B	http://purl.obolibrary.org/obo/MONDO_0010951	A dilated cardiomyopathy that has material basis in variation in the chromosome region 9q13.	http://identifiers.org/omim/600884|DOID:0110443
MONDO:0022921	obsolete short stature-microcephaly-heart defect syndrome	biolink:Disease	mondo	GARD:0000233	gard_rare	short stature microcephaly heart defect|d'ercole syndrome	http://purl.obolibrary.org/obo/MONDO_0022921		
MONDO:0022926	daentl towsend Siegel syndrome	biolink:Disease	mondo	MESH:C535768|GARD:0000236	gard_rare	hydrocephalus blue sclera nephropathy|familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome	http://purl.obolibrary.org/obo/MONDO_0022926		MESH:C535768
HGNC:2364	CRLF1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2364		
UBERON:0004178	aorta smooth muscle tissue	biolink:AnatomicalEntity	mondo			aortic smooth muscle|aorta non-striated muscle|aorta smooth muscle	http://purl.obolibrary.org/obo/UBERON_0004178	the nonstriated, involuntary muscle tissue located in the wall of the aorta	
MONDO:0010939	low phospholipid associated cholelithiasis	biolink:Disease	mondo	SCTID:715577009|UMLS:C2609268|MedDRA:10068936|OMIM:600803|Orphanet:69663	ordo_disease	gallbladder disease 1|cholelithiasis, Low phospholipid-associated|LPAC|gallbladder disease type 1|ABCB4 gene mutation-associated cholelithiasis|GBD1|gallbladder disease 1; GBD1|cholelithiasis with ABCB4 gene mutation	http://purl.obolibrary.org/obo/MONDO_0010939	Low phospholipid associated cholelithiasis is a rare genetic hepatic disease characterized by cholesterol gallstones and intrahepatic stones developing before the age of 40 years.	ORPHA:69663|http://identifiers.org/omim/600803|UMLS:C2609268|SNOMEDCT:715577009|MEDDRA:10068936
MONDO:0009949	pyruvate carboxylase deficiency disease	biolink:Disease	mondo	NCIT:C85040|GARD:0007512|ICD9:277.89|OMIM:266150|ICD10:E74.4|UMLS:C0034341|DOID:3651|Orphanet:3008|EFO:1001142|UMLS:C2931141|MESH:D015324|UMLS:CN203409|SCTID:87694001	ordo_disease	Leigh syndrome due to pyruvate carboxylase deficiency|pyruvate carboxylase deficiency|Pc deficiency|ataxia with lactic acidosis type II|Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency|ataxia with lactic acidosis 2|deficiency of pyruvic carboxylase|ataxia with lactic acidosis type 2|Leigh syndrome due to PC deficiency	http://purl.obolibrary.org/obo/MONDO_0009949	Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.	MESH:D015324|UMLS:CN203409|DOID:3651|http://identifiers.org/omim/266150|NCIT:C85040|SNOMEDCT:87694001|UMLS:C2931141|UMLS:C0034341|ORPHA:3008
MONDO:0009948	pyropoikilocytosis, hereditary	biolink:Disease	mondo	MESH:C563004|ICD9:790.09|OMIM:266140|Orphanet:98867|SCTID:9434008|NCIT:C98943|GARD:0004619	gard_rare	pyropoikilocytosis hereditary|hereditary pyropoikilocytosis|pyropoikilocytosis, hereditary|HPP|pyropoikilocytosis, hereditary; HPP	http://purl.obolibrary.org/obo/MONDO_0009948	An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency.	ORPHA:98867|MESH:C563004|http://identifiers.org/omim/266140|NCIT:C98943|SNOMEDCT:9434008
MONDO:0009947	glutathione synthetase deficiency with 5-oxoprolinuria	biolink:Disease	mondo	ICD9:270.8|ICD10:D55.1|OMIM:266130|Orphanet:289846|SCTID:39112005	ordo_clinical_subtype	GSSD|glutathione synthetase deficiency|5-oxoprolinuria|pyroglutamic aciduria|glutathione synthetase deficiency; GSSD	http://purl.obolibrary.org/obo/MONDO_0009947		SNOMEDCT:39112005|http://identifiers.org/omim/266130|ORPHA:289846
MONDO:0009946	hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	biolink:Disease	mondo	OMIM:266120|Orphanet:35120|UMLS:C1849507|MESH:C564859|ICD10:D55.3	ordo_disease	hemolytic Anemia due to Umph1 deficiency|uridine 5'-monophosphate hydrolase deficiency|Umph1 deficiency|UMPH1 deficiency|hemolytic Anemia due to P5N deficiency|uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to|pyrimidine 5-prime Nucleotidase deficiency, hemolytic Anemia due to|P5N deficiency	http://purl.obolibrary.org/obo/MONDO_0009946	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported.	MESH:C564859|http://identifiers.org/omim/266120|UMLS:C1849507|ORPHA:35120
MONDO:0009945	pyridoxine-dependent epilepsy	biolink:Disease	mondo	GARD:0009298|MESH:C536254|ICD10:G40.8|SCTID:734434007|Orphanet:3006|UMLS:C1849508|UMLS:CN203406	ordo_disease|gard_rare	epilepsy, pyridoxine-dependent; Epd|EPD|antiquitin deficiency|AASA dehydrogenase deficiency|pyridoxine dependency|epilepsy, pyridoxine-dependent|vitamin B6-dependent seizures|pyridoxine dependency with seizures|pyridoxine-dependent epilepsy	http://purl.obolibrary.org/obo/MONDO_0009945	Pyridoxine-dependent epilepsy (PDE) is a rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).	SNOMEDCT:734434007|MESH:C536254|UMLS:C1849508|UMLS:C1291560|ORPHA:3006|UMLS:CN203406
MONDO:0009944	pyloric atresia	biolink:Disease	mondo	MESH:C562561|SCTID:27729002|ICD9:750.7|OMIM:265950		pyloric atresia	http://purl.obolibrary.org/obo/MONDO_0009944		SNOMEDCT:27729002|MESH:C562561|http://identifiers.org/omim/265950
MONDO:0009943	Pyle disease	biolink:Disease	mondo	SCTID:27837003|ICD9:758.5|Orphanet:3005|OMIM:265900|MESH:C536252|GARD:0004612|ICD10:Q78.5|DOID:0080019	ordo_disease	Pyl|Pyle disease|Bakwin-Krida syndrome|Pyle's syndrome|Pyle disease; Pyl|metaphyseal dysplasia|metaphyseal dysplasia Pyle type|Pyle's disease|metaphyseal dysplasia|chondrodysplasia calcificans metaphysealis|metaphyseal dysplasia, Pyle type|Pyle-Cohn syndrome	http://purl.obolibrary.org/obo/MONDO_0009943	Pyle disease is a bone dysplasia characterised by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning.	DOID:0080019|MESH:C536252|SNOMEDCT:27837003|ORPHA:3005|http://identifiers.org/omim/265900
MONDO:0010932	progressive bifocal chorioretinal atrophy	biolink:Disease	mondo	OMIM:600790|UMLS:C1833321|Orphanet:75373|SCTID:719266007|MESH:C535356|GARD:0010123	ordo_disease|gard_rare	chorioretinal atrophy, progressive bifocal|CRAPB|PBCRA|Crapb|progressive bifocal chorioretinal atrophy	http://purl.obolibrary.org/obo/MONDO_0010932	Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression.	MESH:C535356|SNOMEDCT:719266007|ORPHA:75373|UMLS:C1833321|http://identifiers.org/omim/600790
MONDO:0009942	pyknoachondrogenesis	biolink:Disease	mondo	UMLS:C1849523|ICD10:Q78.8|GARD:0004610|MESH:C536251|SCTID:719258003|OMIM:265880|Orphanet:3003	gard_rare|ordo_malformation_syndrome	association of skeletal defects resembling achondrogenesis with generalized bone sclerosis|camera syndrome|pyknoachondrogenesis	http://purl.obolibrary.org/obo/MONDO_0009942	Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.	SNOMEDCT:719258003|MESH:C536251|UMLS:C1849523|http://identifiers.org/omim/265880|ORPHA:3003
MONDO:0010931	vitamin D-dependent rickets, type 2B	biolink:Disease	mondo	NCIT:C131076|SCTID:237895001|UMLS:C2748783|OMIM:600785		hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor without alopecia|vitamin D-dependent rickets, type 2B, with normal vitamin D receptor; VDDR2B|vitamin D-dependent rickets type II without alopecia|VDDR2B|vitamin D resistant rickets|vitamin D dependent rickets 2b|vitamin D receptor signaling defect rickets|vitamin D-dependent rickets, type 2B, with normal vitamin D receptor	http://purl.obolibrary.org/obo/MONDO_0010931	Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations.	UMLS:C2748783|SNOMEDCT:237895001|http://identifiers.org/omim/600785|NCIT:C131076
MONDO:0009941	Pygmy	biolink:Disease	mondo	UMLS:C1849524|OMIM:265850		Pygmy|Pygmy, African	http://purl.obolibrary.org/obo/MONDO_0009941		UMLS:C1849524|http://identifiers.org/omim/265850
MONDO:0010934	obsolete DFNB5	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0010934		
MONDO:0010933	autosomal recessive nonsyndromic deafness 4	biolink:Disease	mondo	MESH:C566366|OMIM:600791|DOID:0110498|ICD10:H90.3		neurosensory nonsyndromic recessive deafness 4|deafness, autosomal recessive 4, with enlarged vestibular aqueduct|DFNB4|dilated vestibular aqueduct|autosomal recessive nonsyndromic deafness type 4|autosomal recessive deafness 4 with enlarged vestibular aqueduct|deafness, autosomal recessive 4, with enlarged vestibular aqueduct; DFNB4	http://purl.obolibrary.org/obo/MONDO_0010933	An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22.	DOID:0110498|http://identifiers.org/omim/600791|MESH:C566366
MONDO:0009940	pycnodysostosis	biolink:Disease	mondo	UMLS:C0238402|GARD:0004611|OMIM:265800|SCTID:89647000|Orphanet:763|MESH:D058631|NCIT:C131187|DOID:0080038|ICD10:Q78.8	gard_rare|ordo_disease	pycnodysostosis|Pyknodysostosis|PKND|Pycd	http://purl.obolibrary.org/obo/MONDO_0009940	Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead, and dental abnormalities.Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery.	NCIT:C131187|ORPHA:763|SNOMEDCT:89647000|http://identifiers.org/omim/265800|MESH:D058631|UMLS:C0238402|DOID:0080038
MONDO:0010936	frontotemporal dementia, chromosome 3-linked	biolink:Disease	mondo	OMIM:600795|SCTID:702393003|DOID:0111227|MESH:C579991|ICD9:331.19|UMLS:C1833296		frontotemporal dementia, chromosome 3-linked|Dmt1|FTD3|frontotemporal dementia, chromosome 3-linked; FTD3|dementia, familial nonspecific	http://purl.obolibrary.org/obo/MONDO_0010936		DOID:0111227|MESH:C579991|SNOMEDCT:702393003|UMLS:C1833296|http://identifiers.org/omim/600795
MONDO:0010935	obsolete neuronopathy, distal hereditary motor, type 5A	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0010935		
CHEBI:33937	macronutrient	biolink:ChemicalSubstance	mondo			macronutrients	http://purl.obolibrary.org/obo/CHEBI_33937		
MONDO:0010938	T-B+ severe combined immunodeficiency due to JAK3 deficiency	biolink:Disease	mondo	MESH:C563440|UMLS:C4273742|ICD10:D81.2|UMLS:C1833275|OMIM:600802|Orphanet:35078|SCTID:718107000	ordo_disease	SCID, T cell-negative, B cell-positive, NK cell-negative|T-B+ SCID due to JAK3 deficiency|severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency|severe combined immunodeficiency, autosomal recessive, T cell-NEGATIVE, B cell-POSITIVE, NK cell-NEGATIVE|T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency	http://purl.obolibrary.org/obo/MONDO_0010938	Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.	SNOMEDCT:718107000|MESH:C563440|ORPHA:35078|UMLS:C1833275|http://identifiers.org/omim/600802|UMLS:C4273742
MONDO:0010937	isoproterenol-mediated vasodilatation	biolink:Disease	mondo	UMLS:C1833276|OMIM:600801		isoproterenol-mediated vasodilatation	http://purl.obolibrary.org/obo/MONDO_0010937		UMLS:C1833276|http://identifiers.org/omim/600801
MONDO:0022918	obsolete cytokine deficiency	biolink:Disease	mondo	GARD:0009529		disorder of cytokine activity|disorder of cytokine activity|cytokine activity disease	http://purl.obolibrary.org/obo/MONDO_0022918	A disease that has its basis in the disruption of cytokine activity.	
MONDO:0022919	cytokine receptor deficiency	biolink:Disease	mondo	GARD:0009530	gard_rare	disorder of cytokine receptor activity|disorder of cytokine receptor activity|cytokine receptor activity disease	http://purl.obolibrary.org/obo/MONDO_0022919	A disease that has its basis in the disruption of cytokine receptor activity.	
HGNC:2372	MED23	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2372		
UBERON:0004161	septum transversum	biolink:AnatomicalEntity	mondo			transverse septum	http://purl.obolibrary.org/obo/UBERON_0004161	A thick plate of mesodermal tissue that occupies the space between the thoracic cavity and yolk stalk in the early embryo, forming a transverse partition partially separating the coelomic cavity into thoracic and abdominal portions. It gives rise to the central tendon of the diaphragm[VHOG].	
MONDO:0010941	nocturnal enuresis, 2	biolink:Disease	mondo	MESH:C563439|UMLS:C1833268|OMIM:600808		enuresis, nocturnal, 2|ENUR2|enuresis, nocturnal, 2; ENUR2	http://purl.obolibrary.org/obo/MONDO_0010941	Nocturnal enuresis where the child has been dry for at least 6 months but enuresis has recurred.	MESH:C563439|UMLS:C1833268|http://identifiers.org/omim/600808
MONDO:0010940	inherited susceptibility to asthma	biolink:Disease	mondo	OMIM:600807	predisposition	asthma-related traits, susceptibility to|asthma, diminished response to Antileukotriene treatment 1N|asthma, protection against|asthma, susceptibility to|asthma, bronchial	http://purl.obolibrary.org/obo/MONDO_0010940		http://identifiers.org/omim/600807
UBERON:0004160	proepicardium	biolink:AnatomicalEntity	mondo			proepicardial cluster|proepicardial organ	http://purl.obolibrary.org/obo/UBERON_0004160	An embryonic group of progenitor cells that forms from an outpouching of the septum transversum near the venous pole of the heart and gives rise to the epicardium	
HGNC:2379	CRTAP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2379		
MONDO:0022912	cutis verticis gyrata mental deficiency	biolink:Disease	mondo	GARD:0001644	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022912		
MONDO:0022913	cutler bass Romshe syndrome	biolink:Disease	mondo	GARD:0001646	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022913		
MONDO:0022916	cystic hygroma lethal cleft palate	biolink:Disease	mondo	GARD:0001653	gard_rare	Cowchock Wapner Kurtz syndrome	http://purl.obolibrary.org/obo/MONDO_0022916		
HGNC:2375	MED17	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2375		
MONDO:0010929	craniosynostosis 4	biolink:Disease	mondo	OMIM:600775|UMLS:C3806917		craniosynostosis 4|ERF craniosynostosis|craniosynostosis caused by mutation in ERF|CRS4|craniosynostosis 4; CRS4|craniosynostosis type 4	http://purl.obolibrary.org/obo/MONDO_0010929	Any craniosynostosis in which the cause of the disease is a mutation in the ERF gene.	http://identifiers.org/omim/600775|UMLS:C3806917
MONDO:0010928	dwarfism, familial, with muscle spasms	biolink:Disease	mondo	GARD:0010610|OMIM:600771|MESH:C563447|UMLS:C1833341	gard_rare	dwarfism familial with muscle spasms|dwarfism, familial, with muscle spasms|familial dwarfism and painful muscle spasms	http://purl.obolibrary.org/obo/MONDO_0010928		http://identifiers.org/omim/600771|MESH:C563447|UMLS:C1833341
MONDO:0009959	peroxisome biogenesis disorder type 3B	biolink:Disease	mondo	ICD10:G60.1|DOID:0050444|OMIM:266510		infantile phytanic acid storage disease|infantile Refsum disease|PBD3B|peroxisome biogenesis disorder type 3B|peroxisome biogenesis disorder 3B; PBD3B|peroxisome biogenesis disorder 3B	http://purl.obolibrary.org/obo/MONDO_0009959	A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation.	DOID:0050444|http://identifiers.org/omim/266510
MONDO:0009958	adult Refsum disease	biolink:Disease	mondo	OMIM:266500|ICD10:G60.1|Orphanet:773|MESH:D012035|COHD:4101333|MedDRA:10038275|SCTID:25362006|ICD9:356.3|ICD9:272.8|DOID:10582|GARD:0005691	gard_rare|ordo_disease	HMSN type IV|classic Refsum disease|phytanic-CoA hydroxylase deficiency|Heredopathia atactica polyneuritiformis|Refsum's disease|Refsum disease, adult, 1|Refsum disease, classic|hereditary motor and sensory neuropathy 4|hereditary sensory and motor neuropathy type 4|HMSN 4|hereditary motor and sensory neuropathy type 4|disorder of cornification 11 (phytanic acid type)|phytanic acid oxidase deficiency|HSMN IV|hypertrophic neuropathy of Refsum|Refsum disease|doc 11 (phytanic acid type)	http://purl.obolibrary.org/obo/MONDO_0009958	Refsum disease (RD) is a very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.	MESH:D012035|ORPHA:773|http://identifiers.org/omim/266500|MEDDRA:10038275|UMLS:C0034960|DOID:10582|SNOMEDCT:25362006
HP:0100871	Abnormality of the palm	biolink:PhenotypicFeature	mondo	UMLS:C4021948		Abnormality of the palm	http://purl.obolibrary.org/obo/HP_0100871	An abnormality of the palm, that is, of the front of the hand.	
HP:0100872	Abnormality of the plantar skin of foot	biolink:PhenotypicFeature	mondo	UMLS:C4020946		Minor feet anomalies	http://purl.obolibrary.org/obo/HP_0100872	An abnormality of the plantar part of foot, that is of the soles of the feet.	
MONDO:0009957	Reese retinal dysplasia	biolink:Disease	mondo	GARD:0010566|UMLS:C1849450|OMIM:266400|MESH:C564854	gard_rare	Reese retinal dysplasia	http://purl.obolibrary.org/obo/MONDO_0009957		MESH:C564854|UMLS:C1849450|http://identifiers.org/omim/266400
MONDO:0009956	red skin pigment anomaly of new guinea	biolink:Disease	mondo	MESH:C535515|OMIM:266350|UMLS:C1849451|GARD:0009757	gard_rare	red skin pigment anomaly of new guinea|Red skin pigment, New Guinea type	http://purl.obolibrary.org/obo/MONDO_0009956		MESH:C535515|UMLS:C1849451|http://identifiers.org/omim/266350
MONDO:0009955	rapadilino syndrome	biolink:Disease	mondo	GARD:0004637|SCTID:702413000|OMIM:266280|MESH:C535288|DOID:0050774|ICD10:Q87.1|ICD9:759.89|Orphanet:3021|UMLS:C1849453	ordo_malformation_syndrome|gard_rare	rapadilino syndrome|radial and patellar hypoplasia|absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate|radial and patellar aplasia	http://purl.obolibrary.org/obo/MONDO_0009955	RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.	MESH:C535288|DOID:0050774|SNOMEDCT:702413000|http://identifiers.org/omim/266280|UMLS:C1849453|ORPHA:3021
MONDO:0010921	nasal dermoid cyst	biolink:Disease	mondo	ICD10:Q18.8|UMLS:C1833473|Orphanet:141103|OMIM:600679|MESH:C563455	ordo_morphological_anomaly	dermoid cysts, familial frontonasal|nasal dermoid sinus cyst	http://purl.obolibrary.org/obo/MONDO_0010921	A dermoid cyst that involves the nose.	MESH:C563455|ORPHA:141103|UMLS:C1833473|http://identifiers.org/omim/600679
MONDO:0009954	Ramon syndrome	biolink:Disease	mondo	Orphanet:3019|OMIM:266270|MESH:C535285|GARD:0007523|UMLS:C0796133|ICD10:Q87.8	ordo_malformation_syndrome|gard_rare	gingival fibromatosis combined with cherubism|cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted Growth|cherubism-gingival fibromatosis-intellectual disability syndrome|Ramon syndrome	http://purl.obolibrary.org/obo/MONDO_0009954		MESH:C535285|http://identifiers.org/omim/266270|ORPHA:3019|UMLS:C0796133
MONDO:0009953	leukocyte adhesion deficiency type II	biolink:Disease	mondo	UMLS:C0398739|MESH:C535755|DOID:0070255|GARD:4634|ICD10:D84.8|NCIT:C4690|GARD:0004634|Orphanet:99843|OMIM:266265|SCTID:234583001	ordo_clinical_subtype	leukocyte adhesion deficiency type 2|SLC35C1-CDG|leukocyte adhesion deficiency, type 2|CDG syndrome type IIc|SLC35C1-CDG (CDG-IIc)|CDG2C|CDG2C|congenital disorder of glycosylation, type IIc; CDG2C|Rambam-Hasharon syndrome|lad-II|RHS|congenital disorder of glycosylation type IIC|congenital disorder of glycosylation, type IIc|LAD2|CDGIIc|CDG-IIc|sialyl-Lewis X defect|lad-type II|CDG IIc|leukocyte adhesion deficiency, type II|CDG 2C	http://purl.obolibrary.org/obo/MONDO_0009953	Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit.	ORPHA:99843|UMLS:C0398739|MESH:C535755|http://identifiers.org/omim/266265|DOID:0070255|NCIT:C4690|SNOMEDCT:234583001
MONDO:0010920	microtia	biolink:Disease	mondo	MESH:C537772|GARD:0000431|ICD10:Q17.2|SCTID:35045004|Orphanet:83463|COHD:378849|ICD9:744.23|OMIM:600674|MedDRA:10027555|MESH:D065817	ordo_morphological_anomaly	microtias, congenital|M-A|microtia, congenital|microtia-anotia|congenital microtias|anotia	http://purl.obolibrary.org/obo/MONDO_0010920	Microtia is a congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal.	ORPHA:83463|MESH:D065817|MEDDRA:10027555|SNOMEDCT:35045004|http://identifiers.org/omim/600674|MESH:C537772
MONDO:0010923	proximal myopathy with focal depletion of mitochondria	biolink:Disease	mondo	MESH:C563453|UMLS:C1833453|OMIM:600706|Orphanet:521305	ordo_disease	proximal myopathy with focal depletion of mitochondria	http://purl.obolibrary.org/obo/MONDO_0010923		MESH:C563453|ORPHA:521305|UMLS:C1833453|http://identifiers.org/omim/600706
MONDO:0009952	radioulnar synostosis-developmental delay-hypotonia syndrome	biolink:Disease	mondo	MESH:C538217|OMIM:266255|Orphanet:3270|SCTID:721883006|ICD10:Q87.8|MESH:C564856|GARD:0001810	ordo_malformation_syndrome|gard_rare	unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance|Der Kaloustian-McIntosh-Silver syndrome|unilateral radio-ulnar synostosis, generalized hypotonia, developintellectual disability, and a characteristic facial appearance|radioulnar synostosis, unilateral, with developmental retardation and hypotonia|radioulnar synostosis with developmental delay and hypotonia syndrome|radioulnar synostosis, unilateral, with developintellectual disability and hypotonia|der Kaloustian mcintosh silver syndrome	http://purl.obolibrary.org/obo/MONDO_0009952	Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).	http://identifiers.org/omim/266255|MESH:C564856|SNOMEDCT:721883006|ORPHA:3270|MESH:C538217
MONDO:0010922	Satoyoshi syndrome	biolink:Disease	mondo	OMIM:600705|UMLS:C1833454|Orphanet:3130|MESH:C536616|SCTID:763630007|GARD:0000160|MedDRA:10070579	ordo_disease|gard_rare	Satoyoshi syndrome|Komuragaeri disease|muscle spasms, intermittent with alopecia, diarrhea and skeletal abnormalities|muscle spasms, intermittent, with alopecia, diarrhea, and skeletal abnormalities	http://purl.obolibrary.org/obo/MONDO_0010922	Satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms. These muscle spasms usually start between 6-15 years old. Other symptoms of the syndrome may include diarrhea and an inability of the digestive tract to absorb certain foods, especially carbohydrates (malabsorption). People affected by Satoyoshi syndrome may also have loss of hair on the head and body (alopecia universalis), short stature, and skeletal abnormalities. Women with Satoyoshi syndrome may not have a menstrual cycle (amenorrhea). In all published cases, only one person in a family has Satoyoshi syndrome. This is even true when the person with Satoyoshi syndrome comes from a large family. Satoyoshi syndrome seems to be more common in Japan. The exact cause of the syndrome is unknown, but some researchers think it may be an autoimmune disease. Satoyoshi syndrome can be diagnosed when a doctor sees symptoms that are consistent with the syndrome. The diagnosis can be confirmed by a variety of laboratory tests. Treatment for Satoyoshi syndrome includes medication to suppress the immune system.	MESH:C536616|ORPHA:3130|UMLS:C1833454|MEDDRA:10070579|SNOMEDCT:763630007|http://identifiers.org/omim/600705
MONDO:0009951	radiculoneuropathy, fatal neonatal	biolink:Disease	mondo	OMIM:266250|UMLS:C1849471|MESH:C564857		Radiculoneuropathy, fatal neonatal	http://purl.obolibrary.org/obo/MONDO_0009951		http://identifiers.org/omim/266250|UMLS:C1849471|MESH:C564857
MONDO:0010925	velo-facial-skeletal syndrome	biolink:Disease	mondo	MESH:C536536|GARD:0005469|OMIM:600736|SCTID:763616002|UMLS:C1833380|Orphanet:3424|ICD10:Q87.0	ordo_malformation_syndrome	VELOFACIOSKELETAL syndrome	http://purl.obolibrary.org/obo/MONDO_0010925	Velo-facial-skeletal syndrome is a very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported.	MESH:C536536|SNOMEDCT:763616002|ORPHA:3424|UMLS:C1833380|http://identifiers.org/omim/600736
MONDO:0009950	pyruvate kinase deficiency of red cells	biolink:Disease	mondo	ICD10:D55.2|OMIM:266200|GARD:0007514|MESH:C564858|UMLS:C0340968|NCIT:C99037|DOID:0111077|SCTID:124331002|Orphanet:766	ordo_disease	hemolytic anemia due to red cell pyruvate kinase deficiency|pyruvate kinase deficiency of erythrocyte|hemolytic Anemia due to pyruvate Kinase deficiency|pyruvate kinase deficiency|pyruvate kinase deficiency of red cells|PK deficiency|pyruvate kinase deficiency of erythrocytes|Pk deficiency	http://purl.obolibrary.org/obo/MONDO_0009950	Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia.	ORPHA:766|NCIT:C99037|http://identifiers.org/omim/266200|MESH:C564858|UMLS:C0340968|SNOMEDCT:124331002|DOID:0111077
MONDO:0010924	D-2-hydroxyglutaric aciduria	biolink:Disease	mondo	ICD10:E72.8|DOID:0050575|GARD:0005661|UMLS:CN233040|UMLS:C1833429|Orphanet:79315|SCTID:237960000|OMIMPS:600721	prototype_pattern|ordo_disease	D-2-hydroxyglutaric acidemia|D-2-HGA|D2HGA|D2HA|D-2-hydroxyglutaric aciduria 1|D-2-hydroxyglutaric aciduria type 1	http://purl.obolibrary.org/obo/MONDO_0010924	D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.	DOID:0050575|ORPHA:79315|SNOMEDCT:237960000|UMLS:CN233040|UMLS:C1833429
MONDO:0010927	orofacial cleft 3	biolink:Disease	mondo	UMLS:C1833369|DOID:0080397|MESH:C563448|OMIM:600757		cleft lip with or without cleft palate, nonsyndromic, 3|OFC3|orofacial cleft 3|orofacial cleft 3; OFC3	http://purl.obolibrary.org/obo/MONDO_0010927		http://identifiers.org/omim/600757|DOID:0080397|MESH:C563448|UMLS:C1833369
MONDO:0010926	familial hypocalciuric hypercalcemia 3	biolink:Disease	mondo	MESH:C537147|UMLS:C1833372|GARD:0002878|Orphanet:101050|OMIM:600740|ICD10:E83.5|DOID:0060702	ordo_etiological_subtype	hypercalcemia, familial benign, Oklahoma type|FHH type 3|familial benign hypercalcemia, Oklahoma variant|familial benign hypercalcemia, type 3|familial hypocalciuric hypercalcemia type 3|hypocalciuric hypercalcemia type III|FBHOk|HHC3|hypercalcemia, familial benign, type 3|hypocalciuric hypercalcemia, familial, type 3|hypocalciuric hypercalcemia, familial, type III|AP2S1 familial hypocalciuric hypercalcemia|FBH3|familial hypocalciuric hypercalcemia caused by mutation in AP2S1|hypocalciuric hypercalcemia, familial, type III; HHC3	http://purl.obolibrary.org/obo/MONDO_0010926	Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene.	http://identifiers.org/omim/600740|ORPHA:101050|DOID:0060702|UMLS:C1833372|MESH:C537147
MONDO:0022907	cutaneous sclerosis	biolink:Disease	mondo	GARD:0009752	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022907		
HGNC:2384	CRY1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2384		
MONDO:0022908	cutis gyratum acanthosis nigricans craniosynostosis	biolink:Disease	mondo	GARD:0001635	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022908		
HGNC:2383	CRX	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2383		
MONDO:0022909	cutis laxa osteoporosis	biolink:Disease	mondo	GARD:0001637	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022909		
UBERON:0004151	cardiac chamber	biolink:AnatomicalEntity	mondo			chamber of heart|heart chamber	http://purl.obolibrary.org/obo/UBERON_0004151	A cardiac chamber surrounds an enclosed cavity within the heart	
MONDO:0010930	anophthalmia plus syndrome	biolink:Disease	mondo	GARD:0000719|ICD10:Q87.8|SCTID:720496006|OMIM:600776|MESH:C537767|Orphanet:1104|UMLS:C1833339	ordo_malformation_syndrome|gard_rare	Leichtman Wood Rohn syndrome|anophthalmia-plus syndrome|Fryns anophthalmia syndrome|Fryns microphthalmia syndrome|microphthalmia with facial clefting|anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder	http://purl.obolibrary.org/obo/MONDO_0010930	Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested.	UMLS:C1833339|SNOMEDCT:720496006|ORPHA:1104|http://identifiers.org/omim/600776|MESH:C537767
MONDO:0022900	athyreotic congenital hypothyroidism	biolink:Disease	mondo	GARD:0001610	gard_rare	cretinism athyreotic	http://purl.obolibrary.org/obo/MONDO_0022900	Congenital hypothyroidism in which fetal deficiency was severe because of complete absence (athyreosis) of the gland. Physical features may include a larger anterior fontanel, persistence of a posterior fontanel, an umbilical hernia, and a large tongue (macroglossia)	
MONDO:0022901	Crohn disease of the esophagus	biolink:Disease	mondo	GARD:0000203|UMLS:C0341116	gard_rare	Crohn's disease of the esophagus	http://purl.obolibrary.org/obo/MONDO_0022901	An Crohn disease involving a pathogenic inflammatory response in the esophagus.	UMLS:C0341116
HGNC:2389	CRYAB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2389		
HGNC:2388	CRYAA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2388		
MONDO:0022904	cryofibrinogenemia	biolink:Disease	mondo	MESH:C536218|SCTID:10934005|UMLS:C0272263|ICD9:286.9|GARD:0009908	gard_rare	cryofibrinogenemia	http://purl.obolibrary.org/obo/MONDO_0022904		MESH:C536218|SNOMEDCT:10934005|UMLS:C0272263
UBERON:0006717	autopodial skeleton	biolink:AnatomicalEntity	mondo			skeletal parts of autopod|skeleton of autopod|autopodial skeleton|autopod skeleton|autopodium	http://purl.obolibrary.org/obo/UBERON_0006717	The collection of all skeletal elements in an autopodium region.	
UBERON:0006716	mesopodium region	biolink:AnatomicalEntity	mondo			mesopodial limb segment|carpus/tarsus|mesopod|mesopodial segment	http://purl.obolibrary.org/obo/UBERON_0006716	The third segment of the limb, including either the wrist segment (carpus) or the ankle segment (tarsus)	
HP:0002410	Aqueductal stenosis	biolink:PhenotypicFeature	mondo	MSH:D006849|UMLS:C2936786		Aqueduct stenosis|Narrowing of aqueduct of Sylvius|Aqueduct of Sylvius stenosis	http://purl.obolibrary.org/obo/HP_0002410	Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum.	
HP:0002414	Spina bifida	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:67531005|Fyler:4157|UMLS:C0080178|MSH:D016135		Split spine	http://purl.obolibrary.org/obo/HP_0002414	Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.	
UBERON:0006723	cochlear modiolus	biolink:AnatomicalEntity	mondo			modiolus cochleae|modiolus of cochlea|cochlea modiolus|modiolus|columella cochleae	http://purl.obolibrary.org/obo/UBERON_0006723	the central cone shaped core of spongy bone about which turns the spiral canal	
GO:0032941	secretion by tissue	biolink:OntologyClass	mondo			expulsion of gland contents|tissue secretion	http://purl.obolibrary.org/obo/GO_0032941	The controlled release of a substance by a tissue.	
GO:0005342	organic acid transmembrane transporter activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0005342	Enables the transfer of organic acids from one side of a membrane to the other. Organic acids are acidic compound containing carbon in covalent linkage.	
UBERON:0006715	radio-ulna	biolink:AnatomicalEntity	mondo			radius+ulna|radioulna|radius-ulna	http://purl.obolibrary.org/obo/UBERON_0006715	Paired, long bones of endochondral origin formed by the fusion of the radius and ulna.	
GO:0032940	secretion by cell	biolink:OntologyClass	mondo			cellular secretion	http://purl.obolibrary.org/obo/GO_0032940	The controlled release of a substance by a cell.	
NCBITaxon:6179	Digenea <flatworms>	organism taxon	mondo	GC_ID:1		flukes|Digenea	http://purl.obolibrary.org/obo/NCBITaxon_6179		
NCBITaxon:6178	Trematoda	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6178		
HGNC:4908	HIBCH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4908		
GO:0019955	cytokine binding	biolink:OntologyClass	mondo			IL binding|interleukin binding	http://purl.obolibrary.org/obo/GO_0019955	Interacting selectively and non-covalently with a cytokine, any of a group of proteins that function to control the survival, growth and differentiation of tissues and cells, and which have autocrine and paracrine activity.	
GO:0019953	sexual reproduction	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0019953	A reproduction process that creates a new organism by combining the genetic material of two gametes, which may come from two organisms or from a single organism, in the case of self-fertilizing hermaphrodites, e.g. C. elegans, or self-fertilization in plants. It occurs both in eukaryotes and prokaryotes: in multicellular eukaryotic organisms, an individual is created anew; in prokaryotes, the initial cell has additional or transformed genetic material. In a process called genetic recombination, genetic material (DNA) originating from two gametes join up so that homologous sequences are aligned with each other, and this is followed by exchange of genetic information. After the new recombinant chromosome is formed, it is passed on to progeny.	
HGNC:4912	HINT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4912		
HGNC:4913	HIP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4913		
HGNC:4921	HIVEP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4921		
HGNC:4922	HK1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4922		
NCBITaxon:6157	Platyhelminthes	organism taxon	mondo	GC_ID:1		flatworm|flatworms|flatworms	http://purl.obolibrary.org/obo/NCBITaxon_6157		
GO:0150075	negative regulation of protein-glutamine gamma-glutamyltransferase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0150075	Any process that stops, prevents or reduces the frequency, rate or extent of protein-glutamine gamma-glutamyltransferase activity.	
GO:0150074	positive regulation of protein-glutamine gamma-glutamyltransferase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0150074	Any process that activates or increases the frequency, rate or extent of protein-glutamine gamma-glutamyltransferase activity.	
GO:0150073	regulation of protein-glutamine gamma-glutamyltransferase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0150073	Any process that modulates the frequency, rate or extent of protein-glutamine gamma-glutamyltransferase activity.	
MONDO:0044299	myasthenic syndrome, congenital, 22	biolink:Disease	mondo	UMLS:C4479088|OMIM:616224|DOID:0080587		CMS22|myasthenic syndrome, congenital, 22; CMS22|Prepl deficiency	http://purl.obolibrary.org/obo/MONDO_0044299		http://identifiers.org/omim/616224|UMLS:C4479088|DOID:0080587
UBERON:0006761	corneo-scleral junction	biolink:AnatomicalEntity	mondo			corneal limbus|corneoscleral junction|sclerocorneal junction|limbus corneae|corneal-scleral limbus|sclerocorneal limbus|limbus corneae|cornea limbus	http://purl.obolibrary.org/obo/UBERON_0006761	the edge of the cornea where it joins the sclera; the limbus is a common site for the occurrence of corneal epithelial neoplasm	
HP:0002459	obsolete Dysautonomia	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0002459		
HGNC:4931	HLA-A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4931		
HGNC:4932	HLA-B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4932		
HGNC:4933	HLA-C	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4933		
UBERON:0004108	clivus of occipital bone	biolink:AnatomicalEntity	mondo			clivus ossis occipitalis|occipital bone clivus|clivus|Wackenheim's clivus line	http://purl.obolibrary.org/obo/UBERON_0004108	Part of the cranium, the clivus is a shallow depression behind the dorsum sellC& that slopes obliquely backward. It forms a gradual sloping process at the anterior most portion of the basilar occipital bone at its junction with the sphenoid bone. On axial planes, it sits just posterior to the sphenoid sinuses. Just lateral to the clivus bilaterally is the foramen lacerum which contains the internal carotid artery, proximal to its anastamosis with the Circle of Willis. Posterior to the clivus is the basilar artery. The clivus supports the upper part of the pons.	
UBERON:0004105	subungual region	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004105	Region beneath a nail or claw.	
UBERON:0004103	alveolar ridge	biolink:AnatomicalEntity	mondo			margo alveolaris|alveolar bone|alveolar body|alveolar process|alveolar margin	http://purl.obolibrary.org/obo/UBERON_0004103	one of the two jaw ridges either on the roof of the mouth between the upper teeth and the hard palate or on the bottom of the mouth behind the lower teeth[WP]. The alveolar ridges contain the sockets (alveoli) of the teeth[HP].	
NCBITaxon:91347	Enterobacterales	organism taxon	mondo	PMID:27620848|GC_ID:11		Enterobacteriales|Enterobacteriaceae and related endosymbionts|enterobacteria|Enterobacteriaceae group|gamma-3 proteobacteria	http://purl.obolibrary.org/obo/NCBITaxon_91347		
HP:0002450	Abnormal motor neuron morphology	biolink:PhenotypicFeature	mondo	UMLS:C4025707		Abnormal shape of motor neuron	http://purl.obolibrary.org/obo/HP_0002450	Any structural anomaly that affects the motor neuron.	
UBERON:0006763	epithelium of conjunctiva	biolink:AnatomicalEntity	mondo			conjunctiva epithelium|conjunctival epithelium	http://purl.obolibrary.org/obo/UBERON_0006763	Layer of nonkeratinized squamous epithelium lining the conjunctiva, overlying scleral tissue	
HGNC:4942	HLA-DQA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4942		
HGNC:4944	HLA-DQB1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4944		
UBERON:0006757	lateral lingual swelling	biolink:AnatomicalEntity	mondo			lateral lingual prominence|tuberculum laterale|lateral swellings|tuberculum linguale laterale	http://purl.obolibrary.org/obo/UBERON_0006757	During the third week there appears, immediately behind the ventral ends of the two halves of the mandibular arch, a rounded swelling named the tuberculum impar, which was described by His as undergoing enlargement to form the buccal part of the tongue. More recent researches, however, show that this part of the tongue is mainly, if not entirely, developed from a pair of lateral swellings (or distal tongue bud) which rise from the inner surface of the mandibular arch and meet in the middle line.	
UBERON:0006756	median lingual swelling	biolink:AnatomicalEntity	mondo			median lingual swelling|median tongue bud|tuberculum linguale mediale|tuberculum impar	http://purl.obolibrary.org/obo/UBERON_0006756	During the third week of embryological development there appears, immediately behind the ventral ends of the two halves of the mandibular arch, a rounded swelling named the tuberculum impar, which was described by His as undergoing enlargement to form the buccal part of the tongue. More recent researches, however, show that this part of the tongue is mainly, if not entirely, developed from a pair of lateral swellings which rise from the inner surface of the mandibular arch and meet in the middle line. The site of their meeting remains post-embryonically as the median sulcus of the tongue. The tuberculum impar is said to form the central part of the tongue immediately in front of the foramen cecum, but Hammar insists that it is purely a transitory structure and forms no part of the adult tongue[WP, Gray's].	
HP:0002438	Cerebellar malformation	biolink:PhenotypicFeature	mondo	UMLS:C4025708			http://purl.obolibrary.org/obo/HP_0002438		
HGNC:4948	HLA-DRB1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4948		
NCBITaxon:6182	Schistosoma japonicum	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6182		
GO:0019915	lipid storage	biolink:OntologyClass	mondo			storage of lipids|sequestering of lipids|sequestration of lipid|lipid sequestration|sequestration of lipids|lipid sequestering|lipid retention|retention of lipids	http://purl.obolibrary.org/obo/GO_0019915	The accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development.	
NCBITaxon:6183	Schistosoma mansoni	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6183		
NCBITaxon:6180	Strigeidida	organism taxon	mondo	GC_ID:1		Strigeida	http://purl.obolibrary.org/obo/NCBITaxon_6180		
NCBITaxon:6181	Schistosoma	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6181		
HP:0002435	Meningocele	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:171131006|MSH:D008588|UMLS:C0025299			http://purl.obolibrary.org/obo/HP_0002435	Protrusion of the meninges through a defect of the vertebral column.	
CHEBI:55324	gastrointestinal drug	biolink:ChemicalSubstance	mondo			gastrointestinal agents|gastrointestinal agent|gastrointestinal drugs	http://purl.obolibrary.org/obo/CHEBI_55324	A drug used for its effects on the gastrointestinal system, e.g. controlling gastric acidity, regulating gastrointestinal motility and water flow, and improving digestion.	
CHEBI:55323	antidiarrhoeal drug	biolink:ChemicalSubstance	mondo			antidiarrheal drug|antiperistaltic drug|antidiarrheal agents|antiperistaltic agents|antiperistaltic agent|antidiarrheal agent|antiperistaltic drugs|antidiarrheal drugs|antiperistaltic|antidiarrhoeal agent|antidiarrhoeals|antidiarrheal|antidiarrhoeal drugs|antidiarrheals|antidiarrhoeal agents|antidiarrhoeal|antiperistaltics	http://purl.obolibrary.org/obo/CHEBI_55323	Any drug found useful in the symptomatic treatment of diarrhoea.	
CHEBI:57986	riboflavin(1-)	biolink:ChemicalSubstance	mondo			riboflavin|7,8-dimethyl-2,4-dioxo-10-[(2S,3S,4R)-2,3,4,5-tetrahydroxypentyl]-2H,3H,4H,10H-benzo[g]pteridin-3-ide|1-deoxy-1-(7,8-dimethyl-2,4-dioxo-2H-benzo[g]pteridin-3-id-10(4H)-yl)-D-ribitol	http://purl.obolibrary.org/obo/CHEBI_57986	The anion resulting from removal of a proton from the nitrogen at the 3 position (between the two carbonyl gropus) of riboflavin.	
NCBITaxon:6187	Schistosoma intercalatum	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6187		
CHEBI:57981	D-phenylalanine zwitterion	biolink:ChemicalSubstance	mondo			D-phenylalanine|(2R)-2-azaniumyl-3-phenylpropanoate|(2R)-2-ammonio-3-phenylpropanoate	http://purl.obolibrary.org/obo/CHEBI_57981	A D-alpha-amino acid zwitterion that is D-phenylalanine in which a proton has been transferred from the carboxy group to the amino group. It is the major species at pH 7.3.	
UBERON:0006742	canthus	biolink:AnatomicalEntity	mondo			canthorum|canthoplasty|bicanthal|canthus (anatomy)|canthus of eye|angle of eye|canthi|palpebral commissure|bicanthal plane	http://purl.obolibrary.org/obo/UBERON_0006742	A canthus is a corner of the eye where the upper and lower eyelids meet. The bicanthal plane is the transversal plane linking both canthi and defines the upper boundary of the midface.	
GO:0150063	visual system development	biolink:OntologyClass	mondo			visual pathway development|optic pathway development	http://purl.obolibrary.org/obo/GO_0150063	The process whose specific outcome is the progression of the visual system over time, from its formation to the mature structure, including the eye, parts of the central nervous system (CNS) involved in processing of visual inputs, and connecting nerve pathways.	
NCBITaxon:6193	Opisthorchiida	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6193		
NCBITaxon:6194	Opisthorchiata	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6194		
HGNC:4964	HLA-G	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4964		
UBERON:0018707	bladder organ	biolink:AnatomicalEntity	mondo			bladder	http://purl.obolibrary.org/obo/UBERON_0018707	A membranous sac in animals that serves as the receptacle of a liquid or contains gas.	
NCBITaxon:6199	Cestoda	organism taxon	mondo	GC_ID:1		tapeworms	http://purl.obolibrary.org/obo/NCBITaxon_6199		
MONDO:0019173	rabies	biolink:Disease	mondo	Orphanet:770|ICD10:A82.1|SCTID:14168008|ICD10:A82.0|MedDRA:10037742|DOID:11260|UMLS:C0034494|GARD:0007516|NCIT:C28182|ICD9:071|ICD10:A82|ICD10:A82.9|COHD:377793|MESH:D011818	gard_rare|ordo_disease	lyssa	http://purl.obolibrary.org/obo/MONDO_0019173	Rabies is a viral zoonosis leading to a fatal encephalopathy if not treated.	MEDDRA:10037742|SNOMEDCT:14168008|NCIT:C28182|ORPHA:770|MESH:D011818|DOID:11260|UMLS:C0034494
MONDO:0020162	secondary ectropion	biolink:Disease	mondo	Orphanet:98571|ICD10:H02.1	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020162		ORPHA:98571
MONDO:0020161	congenital ectropion	biolink:Disease	mondo	SCTID:26590002|ICD10:Q10.1|Orphanet:98570	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020161		UMLS:C0266578|ORPHA:98570|SNOMEDCT:26590002
MONDO:0019172	aniridia	biolink:Disease	mondo	MedDRA:10002532|GARD:0005816|ICD9:743.45|DOID:12271|UMLS:C0003076|SCTID:69278003|ICD10:Q13.1|Orphanet:77|MESH:D015783|NCIT:C84563	ordo_group_of_disorders|gard_rare	aplasia of iris	http://purl.obolibrary.org/obo/MONDO_0019172	Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia).	NCIT:C84563|UMLS:C2931795|UMLS:C0003076|MESH:C538293|MESH:D015783|SNOMEDCT:69278003|DOID:12271|MEDDRA:10002532|ORPHA:77
MONDO:0019175	primary lymphedema	biolink:Disease	mondo	ICD10:I89.0|Orphanet:77240|NCIT:C48829	ordo_group_of_disorders	primary lymphedema|Troncular lymphatic malformation	http://purl.obolibrary.org/obo/MONDO_0019175	A congenital condition that results in swelling in the arms or legs, and can occur during adolescence or adulthood. Loss of motion and pain may also accompany the swelling. Protein-rich lymphatic fluid accumulates in tissues, engorging and enlarging vessels and often causing visible swelling, tenderness, and pain. Left untreated, the affected tissues may continue to swell, and can become hardened or fibrotic and susceptible to infection.	NCIT:C48829|ORPHA:77240
MONDO:0020160	secondary entropion	biolink:Disease	mondo	Orphanet:98569|ICD10:H02.0	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020160		ORPHA:98569
MONDO:0019174	infantile Refsum disease	biolink:Disease	mondo	GARD:0004648|UMLS:C0282527|MESH:D052919|SCTID:238062008|ICD10:G60.1|NCIT:C84789|Orphanet:772	ordo_disease	Refsum disease, infantile form|IRD|infantile form of phytanic acid storage disease	http://purl.obolibrary.org/obo/MONDO_0019174	Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD).	NCIT:C84789|SNOMEDCT:238062008|UMLS:C0282527|ORPHA:772|MESH:D052919
MONDO:0019171	familial long QT syndrome	biolink:Disease	mondo	UMLS:C1141890|ICD10:I45.8|SCTID:442917000|Orphanet:768|OMIMPS:192500|MedDRA:10057926	clingen|ordo_disease	LQTS|congenital long QT syndrome|hereditary long QT syndrome	http://purl.obolibrary.org/obo/MONDO_0019171	Congenital long QT syndrome (LQTS) is a hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias.	UMLS:C1141890|ORPHA:768|SNOMEDCT:442917000|MEDDRA:10057926
NCBITaxon:1173061	Geotrichum candidum	organism taxon	mondo	GC_ID:1		Galactomyces geotrichum|Oospora lactis|Dipodascus geotrichum|Galactomyces candidum|Galactomyces candidus|Endomyces geotrichum	http://purl.obolibrary.org/obo/NCBITaxon_1173061		
MONDO:0019170	polyarteritis nodosa	biolink:Disease	mondo	GARD:0007360|SCTID:155441006|ICD9:446.0|Orphanet:767|MedDRA:10036024|DOID:9810|UMLS:C0031036|NCIT:C26847|MESH:D010488|COHD:320749|ICD10:M30.0	ordo_disease	panarteritis nodosa|periarteritis nodosa|polyarteritis nodosa|classic polyarteritis nodosa|polyarteritis|periarteritis|PAN|Küssmaul-Maier disease|classical polyarteritis nodosa	http://purl.obolibrary.org/obo/MONDO_0019170	Polyarteritis nodosa (PAN) is a rare, clinically heterogeneous, rheumatologic disease characterized by necrotizing inflammatory lesions affecting small- and medium-sized blood vessels. PAN most commonly affects skin, joints, peripheral nerves, the gut, and the kidney.	UMLS:C0031036|MEDDRA:10036024|ORPHA:767|MESH:D010488|DOID:9810|SNOMEDCT:155441006|NCIT:C26847
MONDO:0044137	vitreous body disorder	biolink:Disease	mondo	NCIT:C45256|ICD9:379.29|EFO:0008624|UMLS:C0155365|SCTID:76682005		vitreous body disease|vitreous body disease or disorder|vitreous body disorder|disease of vitreous body|disorder of vitreous body|disorder of vitreous body|disease or disorder of vitreous body	http://purl.obolibrary.org/obo/MONDO_0044137	Any disease affecting the vitreous body of the eye.	SNOMEDCT:76682005|NCIT:C45256|UMLS:C0155365
MONDO:0020169	rare disorder with ptosis	biolink:Disease	mondo	UMLS:CN207031|MedDRA:10015995|Orphanet:98578|MedDRA:10037272	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020169		MEDDRA:10037272|ORPHA:98578|MESH:D001763|UMLS:CN207031|UMLS:C0005745|MEDDRA:10015995|UMLS:C0033377
GO:0042488	positive regulation of odontogenesis of dentin-containing tooth	biolink:OntologyClass	mondo			activation of odontogenesis|positive regulation of odontogenesis of dentine-containing tooth|stimulation of odontogenesis|up-regulation of odontogenesis|up regulation of odontogenesis|positive regulation of odontogenesis of dentine-containing teeth|upregulation of odontogenesis	http://purl.obolibrary.org/obo/GO_0042488	Any process that activates or increases the frequency, rate or extent of the formation and development of teeth, the hard, bony appendages that are borne on the jaws, or on other bones in the walls of the mouth or pharynx of most vertebrates.	
MONDO:0020168	obsolete kinetic eyelid anomaly	biolink:Disease	mondo	Orphanet:98577			http://purl.obolibrary.org/obo/MONDO_0020168		ORPHA:98577
MONDO:0020167	malposition of external canthus	biolink:Disease	mondo	Orphanet:98576|ICD10:Q10.3	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020167		ORPHA:98576
MONDO:0044138	hyalitis	biolink:Disease	mondo	SCTID:95802009|EFO:1001907|NCIT:C50587|UMLS:C0235812		vitritis|hyaloiditis|hyalitis|Vitreitis|Vitritis	http://purl.obolibrary.org/obo/MONDO_0044138	Inflammatory intraocular reaction with clouding and cells in vitreous; often accompanies inflammation of ciliary body, iris, choroid, or retina.	SNOMEDCT:95802009|NCIT:C50587|UMLS:C0235812
GO:0042487	regulation of odontogenesis of dentin-containing tooth	biolink:OntologyClass	mondo			regulation of odontogenesis of dentine-containing teeth|regulation of odontogenesis of dentine-containing tooth	http://purl.obolibrary.org/obo/GO_0042487	Any process that modulates the frequency, rate or extent of the formation and development of teeth, the hard, bony appendages which are borne on the jaws, or on other bones in the walls of the mouth or pharynx of most vertebrates.	
MONDO:0007188	primary basilar invagination	biolink:Disease	mondo	GARD:0001037|Orphanet:2285|OMIM:109500|UMLS:C1862299|ICD10:Q75.8|MESH:C566226	ordo_morphological_anomaly	basilar impression, primary|primary basilar impression|Bull-Nixon syndrome	http://purl.obolibrary.org/obo/MONDO_0007188	Primary basilar impression (PBI) is a very rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. PBI can be asymptomatic or associated with severe neurological dysfunction.	UMLS:C1862299|http://identifiers.org/omim/109500|ORPHA:2285|MESH:C566226
GO:0042482	positive regulation of odontogenesis	biolink:OntologyClass	mondo			stimulation of odontogenesis|upregulation of odontogenesis|positive regulation of tooth development|up-regulation of odontogenesis|positive regulation of odontogenesis of calcareous or chitinous tooth|up regulation of odontogenesis|activation of odontogenesis	http://purl.obolibrary.org/obo/GO_0042482	Any process that activates or increases the frequency, rate or extent of the formation and development of a tooth or teeth.	
MONDO:0020166	obsolete telecanthus	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0020166		
GO:0042481	regulation of odontogenesis	biolink:OntologyClass	mondo			regulation of odontogenesis of calcareous or chitinous tooth|regulation of tooth development	http://purl.obolibrary.org/obo/GO_0042481	Any process that modulates the frequency, rate or extent of the formation and development of a tooth or teeth.	
MONDO:0020165	syndromic epicanthus	biolink:Disease	mondo	Orphanet:98574|UMLS:CN227805	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020165		UMLS:CN227805|ORPHA:98574
MONDO:0007189	B-cell growth factor	biolink:Disease	mondo	OMIM:109540		B-cell growth factor; BCGF|B-cell growth Factor 1|B-cell growth factor|BCGF	http://purl.obolibrary.org/obo/MONDO_0007189		http://identifiers.org/omim/109540
MONDO:0007186	gastroesophageal reflux disease	biolink:Disease	mondo	COHD:318800|DOID:8534|OMIM:109350|ICD10:K21|UMLS:C0017168|ICD9:530.81|EFO:0003948|NCIT:C26781|MESH:D005764|ICD10:K21.9|SCTID:235595009		GERD|gastroesophageal reflux, pediatric|gastro-esophageal reflux|GERD - gastro-esophageal reflux disease|Gastresophageal reflux|gastroesophageal reflux|gastroesophageal reflux disease|ger|acid reflux|gastroesophageal reflux; ger	http://purl.obolibrary.org/obo/MONDO_0007186	A chronic disorder characterized by reflux of the gastric and/or duodenal contents into the distal esophagus. It is usually caused by incompetence of the lower esophageal sphincter. Symptoms include heartburn and acid indigestion. It may cause injury to the esophageal mucosa.	MESH:D005764|NCIT:C26781|DOID:8534|http://identifiers.org/omim/109350|SNOMEDCT:235595009|NCIT:C92560|UMLS:C0017168
MONDO:0020164	epicanthal fold	biolink:Disease	mondo	Orphanet:98573|ICD10:Q10.3	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020164		ORPHA:98573
MONDO:0007187	nevoid basal cell carcinoma syndrome	biolink:Disease	mondo	NCIT:C2892|Orphanet:377|SCTID:69408002|OMIM:109400|DOID:2512|ICD10:Q87.8|MedDRA:10062804|GARD:0007166|UMLS:C0004779|MESH:D001478	clingen|ordo_malformation_syndrome	multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies|Gorlin-Goltz syndrome|BCNS|NBCCS|nevoid basal cell carcinoma syndrome|basal cell nevus syndrome; BCNS|basal cell nevus syndrome|basal cell nevus syndrome|nevoid basal cell cancer syndrome|Gorlin syndrome|multiple basal cell carcinomas	http://purl.obolibrary.org/obo/MONDO_0007187	A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities.	UMLS:C0004779|http://identifiers.org/omim/109400|MESH:D001478|NCIT:C2892|SNOMEDCT:69408002|ORPHA:377|DOID:2512|MEDDRA:10062804
GO:0042483	negative regulation of odontogenesis	biolink:OntologyClass	mondo			down-regulation of odontogenesis|down regulation of odontogenesis|negative regulation of odontogenesis of calcareous or chitinous tooth|negative regulation of tooth development|inhibition of odontogenesis|downregulation of odontogenesis	http://purl.obolibrary.org/obo/GO_0042483	Any process that stops, prevents, or reduces the frequency, rate or extent of the formation and development of a tooth or teeth.	
MONDO:0020163	canthal anomaly	biolink:Disease	mondo	Orphanet:98572	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020163		ORPHA:98572
MONDO:0007184	AGA1	biolink:Disease	mondo	OMIM:109200		AGA1|baldness, Male pattern|alopecia, androgenetic, 1; AGA1|alopecia, androgenetic, 1	http://purl.obolibrary.org/obo/MONDO_0007184		http://identifiers.org/omim/109200
MONDO:0007185	Banki syndrome	biolink:Disease	mondo	GARD:0000813|ICD10:Q68.1|Orphanet:1228|MESH:C566228|SCTID:733093004|OMIM:109300|UMLS:C1862319	gard_rare|ordo_malformation_syndrome	fusion of the lunate and cuneiform bones of the wrist, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis)|Banki syndrome	http://purl.obolibrary.org/obo/MONDO_0007185	Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965.	UMLS:C1862319|http://identifiers.org/omim/109300|MESH:C566228|ORPHA:1228|SNOMEDCT:733093004
MONDO:0007182	Machado-Joseph disease	biolink:Disease	mondo	OMIM:109150|Orphanet:98757|UMLS:C0024408|SCTID:91952008|ICD10:G11.8|ICD9:336.8|NCIT:C84830|DOID:1440|GARD:0006801|MESH:D017827	ordo_disease	Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia|Nigrospinodentatal Degeneration|spinocerebellar ataxia 3|SCA3|Spinopontine atrophy|Azorean disease of the nervous system|Azorean disease|Machado-Joseph disease; MJD|Machado-Joseph disease|spinocerebellar ataxia type 3|MJD|spinocerebellar atrophy type 3|spinocerebellar atrophy 3|autosomal dominant striatonigral degeneration|Azorean neurologic disease|Machado disease	http://purl.obolibrary.org/obo/MONDO_0007182	Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations.	MESH:D017827|NCIT:C84830|http://identifiers.org/omim/109150|ORPHA:98757|UMLS:C0024408|SNOMEDCT:91952008|DOID:1440
MONDO:0007183	azotemia, familial	biolink:Disease	mondo	UMLS:C1862358|OMIM:109160|MESH:C566233		azotemia, familial	http://purl.obolibrary.org/obo/MONDO_0007183		http://identifiers.org/omim/109160|UMLS:C1862358|MESH:C566233
MONDO:0007180	Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities	biolink:Disease	mondo	OMIM:109120|Orphanet:1831|MESH:C566234|UMLS:C1862373		De Hauwere syndrome|Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities|iris dysplasia with ocular hypertelorism, psychomotor retardation, and sensorineural deafness	http://purl.obolibrary.org/obo/MONDO_0007180		http://identifiers.org/omim/109120|UMLS:C1862373|MESH:C566234|ORPHA:1831
MONDO:0007181	axial osteomalacia	biolink:Disease	mondo	GARD:0008431|OMIM:109130|MESH:C537791|DOID:0080039|UMLS:C1862372	gard_rare	axial osteomalacia|atypical osteomalacia involving the axial skeleton	http://purl.obolibrary.org/obo/MONDO_0007181		UMLS:C1862372|http://identifiers.org/omim/109130|DOID:0080039|MESH:C537791
GO:0042489	negative regulation of odontogenesis of dentin-containing tooth	biolink:OntologyClass	mondo			negative regulation of odontogenesis of dentine-containing teeth|down regulation of odontogenesis|negative regulation of odontogenesis of dentine-containing tooth|downregulation of odontogenesis|inhibition of odontogenesis|down-regulation of odontogenesis|negative regulation of odontogenesis	http://purl.obolibrary.org/obo/GO_0042489	Any process that stops, prevents, or reduces the frequency, rate or extent of the formation and development of teeth, the hard, bony appendages which are borne on the jaws, or on other bones in the walls of the mouth or pharynx.	
MONDO:0019177	odontoleukodystrophy	biolink:Disease	mondo	GARD:0009632|Orphanet:77295|ICD10:E75.2|SCTID:722064003	ordo_disease	dentoleukoencephalopathy|leukodystrophy with oligodontia	http://purl.obolibrary.org/obo/MONDO_0019177	Leukodystrophy with oligodontia is characterised by progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.	ORPHA:77295|SNOMEDCT:722064003
MONDO:0019176	trichorhinophalangeal syndrome type I or III	biolink:Disease	mondo	ICD10:Q87.1|UMLS:CN205736|Orphanet:77258	ordo_malformation_syndrome	trichorhinophalangeal syndrome type 1 and 3	http://purl.obolibrary.org/obo/MONDO_0019176	Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones.	ORPHA:77258|UMLS:CN205736
MONDO:0019179	monosomy 9q22.3	biolink:Disease	mondo	Orphanet:77301|ICD10:Q93.5|UMLS:C3711390|SCTID:724098008|MESH:C579873	ordo_malformation_syndrome	microdeletion 9q22.3	http://purl.obolibrary.org/obo/MONDO_0019179	Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.	ORPHA:77301|MESH:C579873|UMLS:C3711390|SNOMEDCT:724098008
MONDO:0019178	auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome	biolink:Disease	mondo	Orphanet:77300|ICD10:Q87.0|UMLS:CN205748	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0019178	The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age: 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities.	ORPHA:77300|UMLS:CN205748
MONDO:0019162	pseudohypoaldosteronism type 2	biolink:Disease	mondo	ICD9:588.89|ICD10:I15.1|NCIT:C123252|Orphanet:757|GARD:0004553|UMLS:C1449844|OMIMPS:145260|SCTID:15689008	ordo_disease	PHAII|PHA2|chloride shunt syndrome|Spitzer-Weinstein syndrome|familial hyperkalemic hypertension|Gordon syndrome|hyperpotassemia and hypertension familial|pseudohypoaldosteronism, type II|pseudohypoaldosteronism, type 2|hyperkalemia-hypertension syndrome, Gordon type|hypertensive hyperkalemia|mineralocorticoid resistant hyperkalemia|Gordon hyperkalemia-hypertension syndrome	http://purl.obolibrary.org/obo/MONDO_0019162	Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function.	NCIT:C123252|UMLS:C1449844|ORPHA:757|SNOMEDCT:15689008
MONDO:0020151	obsolete rare palpebral disease	biolink:Disease	mondo	Orphanet:98560		rare eyelid disease	http://purl.obolibrary.org/obo/MONDO_0020151	Any of the forms of eyelid disease that have a rare incidence.	ORPHA:98560
MONDO:0019161	pseudohypoaldosteronism type 1	biolink:Disease	mondo	SCTID:43941006|UMLS:C0268436|Orphanet:756|NCIT:C123251|ICD10:N25.8|ICD9:275.8	ordo_disease	PHA1B|PHA type 1|pseudohypoaldosteronism type I autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0019161	Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration.	NCIT:C123251|UMLS:C0268436|SNOMEDCT:43941006|UMLS:C1449843|ORPHA:756
MONDO:0020150	obsolete rare palpebral, lacrimal system and conjunctival disease	biolink:Disease	mondo	Orphanet:98559|UMLS:CN207025			http://purl.obolibrary.org/obo/MONDO_0020150		ORPHA:98559|UMLS:CN207025
MONDO:0019164	6q terminal deletion syndrome	biolink:Disease	mondo	SCTID:719666002|UMLS:CN205719|UMLS:C4304514|Orphanet:75857|ICD10:Q93.5	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0019164	6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.	UMLS:CN205719|ORPHA:75857|UMLS:C4304514|SNOMEDCT:719666002
MONDO:0019163	obsolete pseudoxanthoma elasticum	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019163		
MONDO:0044141	panic disorder without agoraphobia	biolink:Disease	mondo	NCIT:C97193|EFO:1001906|SCTID:56576003		panic disorder without agoraphobia	http://purl.obolibrary.org/obo/MONDO_0044141	A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder.	SNOMEDCT:56576003|NCIT:C97193
MONDO:0019160	primary progressive freezing gait	biolink:Disease	mondo	UMLS:C4275078|SCTID:715627004|UMLS:CN205712|Orphanet:75567	ordo_clinical_syndrome	PPFG	http://purl.obolibrary.org/obo/MONDO_0019160	Primary progressive freezing gait is a rare, heterogeneous, progressively incapacitating neurodegenerative disease characterized by freezing of gait (usually during the first 3 years), later associating postural instability, eventually resulting in a wheelchair-bound state. Other features may include mild bradykinesia, rigidity, postural tremor, hyperreflexia, speech disorder and dementia. The disease is unresponsive to dopaminergic treatments.	UMLS:CN205712|UMLS:C4275078|ORPHA:75567|SNOMEDCT:715627004
MONDO:0020159	congenital entropion	biolink:Disease	mondo	MedDRA:10014923|SCTID:20392000|Orphanet:98568|ICD10:Q10.2	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020159		MEDDRA:10014923|UMLS:C0266579|ORPHA:98568|SNOMEDCT:20392000
MONDO:0020158	eyelids malposition disorder	biolink:Disease	mondo	UMLS:CN227803|Orphanet:98567	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020158		UMLS:CN227803|ORPHA:98567
MONDO:0020157	syndromic palpebral coloboma	biolink:Disease	mondo	UMLS:CN227802|Orphanet:98566	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020157		UMLS:CN227802|ORPHA:98566
MONDO:0020156	syndromic ankyloblepharon	biolink:Disease	mondo	UMLS:CN227801|Orphanet:98565	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020156		UMLS:CN227801|ORPHA:98565
MONDO:0020155	eyelid border anomaly	biolink:Disease	mondo	Orphanet:98564	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020155		ORPHA:98564
MONDO:0044144	panic disorder with agoraphobia	biolink:Disease	mondo	NCIT:C97194|SCTID:35607004		panic disorder with agoraphobia	http://purl.obolibrary.org/obo/MONDO_0044144	A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is a component of this disorder.	NCIT:C97194|SNOMEDCT:35607004
GO:0042493	response to drug	biolink:OntologyClass	mondo			drug susceptibility/resistance|drug resistance	http://purl.obolibrary.org/obo/GO_0042493	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease.	
MONDO:0007199	blepharochalasis, superior	biolink:Disease	mondo	OMIM:110000|UMLS:C1862275|MESH:C566223		blepharochalasis, superior	http://purl.obolibrary.org/obo/MONDO_0007199		UMLS:C1862275|MESH:C566223|http://identifiers.org/omim/110000
MONDO:0020154	microblepharon-ablephara syndrome	biolink:Disease	mondo	ICD10:Q10.3|UMLS:CN237783|Orphanet:98563	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020154		ORPHA:98563|UMLS:CN237783
MONDO:0007197	bladder diverticulum (disease)	biolink:Disease	mondo	ICD10:N32.3|DOID:11353|MESH:C562406|ICD9:596.3|COHD:195864|HP:0000015|SCTID:197866008|OMIM:109820		diverticulum - bladder|diverticulum of bladder|bladder diverticulum	http://purl.obolibrary.org/obo/MONDO_0007197		http://identifiers.org/omim/109820|DOID:11353|SNOMEDCT:197866008|MESH:C562406
MONDO:0020153	cryptophthalmia	biolink:Disease	mondo	NCIT:C124520|SCTID:400951005|DOID:0111716|Orphanet:98562|ICD9:743.06|GARD:0010505	ordo_group_of_disorders	cryptophthalmos	http://purl.obolibrary.org/obo/MONDO_0020153	A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure.	SNOMEDCT:400951005|ORPHA:98562|DOID:0111716|NCIT:C124520
MONDO:0020152	rare eyelid malformation	biolink:Disease	mondo	Orphanet:98561	ordo_group_of_disorders|obsoletion_candidate	eyelid malformation	http://purl.obolibrary.org/obo/MONDO_0020152		ORPHA:98561
MONDO:0007198	Ascher syndrome	biolink:Disease	mondo	ICD10:Q87.0|OMIM:109900|Orphanet:1253|ICD9:374.89|MESH:C562742|GARD:0000201|ICD9:246.8|SCTID:28599006|UMLS:C0339085	gard_rare|ordo_malformation_syndrome	Ascher's syndrome|blepharochalasis - double lip|Ascher syndrome|blepharochalasis-double lip syndrome|Double upper lip, blepharochalasis and enlargement of the thyroid|blepharochalasis and double lip|blepharochalasis and DOUBLE LIP|blepharochalasis and Double lip|blepharochalasis and Double type lip	http://purl.obolibrary.org/obo/MONDO_0007198	Ascher syndrome is a very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported.	MESH:C562742|SNOMEDCT:28599006|ORPHA:1253|http://identifiers.org/omim/109900|UMLS:C0339085
MONDO:0007195	bifid nose, autosomal dominant	biolink:Disease	mondo	UMLS:C2751431|OMIM:109740		bifid nose, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0007195		http://identifiers.org/omim/109740|UMLS:C2751431
NCBITaxon:742845	Malasseziaceae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_742845		
MONDO:0007196	obsolete bladder cancer	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0007196		
MONDO:0007193	primary biliary cholangitis 1	biolink:Disease	mondo	UMLS:CN029380|OMIM:109720		PBC1|biliary cirrhosis, primary, 1; PBC1|Pbc|biliary cirrhosis, primary, 1	http://purl.obolibrary.org/obo/MONDO_0007193		UMLS:CN029380|http://identifiers.org/omim/109720
MONDO:0007194	familial bicuspid aortic valve	biolink:Disease	mondo	Orphanet:402075|ICD10:Q23.1|DOID:0080332|OMIMPS:109730	ordo_morphological_anomaly	aortic valve disease 1|AOVD1|aortic valve disease type 1|familial BAV	http://purl.obolibrary.org/obo/MONDO_0007194	Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).	DOID:0080332|ORPHA:402075
MONDO:0007191	Behcet disease	biolink:Disease	mondo	OMIM:109650|GARD:0000848|EFO:0003780|DOID:13241|MedDRA:10004213|Orphanet:117|ICD10:M35.2|SCTID:310701003|COHD:436642|ICD9:136.1|UMLS:C0004943|MESH:D001528|NCIT:C34416	ordo_disease	Behçet-Adamantiades syndrome|BD|Behçet syndrome|Behçet disease|Behcet's syndrome|Adamantiades-Behcet disease|Behcet disease|Bechet syndrome|triple symptom complex|Behcet's disease|Behet's syndrome|silk road disease|Behcet syndrome|Behçet's disease|Behçet’s disease|Morbus Behçet's syndrome|Behçet's syndrome	http://purl.obolibrary.org/obo/MONDO_0007191	Bechet disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.	UMLS:C0004943|http://identifiers.org/omim/109650|MESH:D001528|ORPHA:117|NCIT:C34416|DOID:13241|MEDDRA:10004213|SNOMEDCT:310701003
MONDO:0007192	AABT	biolink:Disease	mondo	UMLS:C1862289|OMIM:109660		AABT|taurine renal reabsorption|BETA-amino acids, renal TRANSPORT OF|BETA-amino acids, renal TRANSPORT OF; AABT	http://purl.obolibrary.org/obo/MONDO_0007192		UMLS:C1862289|http://identifiers.org/omim/109660
MONDO:0020149	rare eye disease due to a differentiation anomaly	biolink:Disease	mondo	UMLS:CN207024|Orphanet:98558	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020149		ORPHA:98558|UMLS:CN207024
MONDO:0007190	leukemia, chronic lymphocytic, susceptibility to, 2	biolink:Disease	mondo	OMIM:109543	predisposition	leukemia, chronic lymphocytic, B-cell|Clls2|leukemia, chronic lymphocytic, susceptibility to, type 2|disrupted in B-cell malignancy|B-cell malignancy, low-grade|leukemia, chronic lymphocytic, susceptibility to, 2	http://purl.obolibrary.org/obo/MONDO_0007190		http://identifiers.org/omim/109543
MONDO:0019169	pyruvate dehydrogenase deficiency	biolink:Disease	mondo	ICD10:E74.4|DOID:3649|SCTID:46683007|OMIMPS:312170|NCIT:C103968|ICD9:277.89|GARD:0007513|EFO:0007459|Orphanet:765	ordo_disease	PDHC|deficiency of pyruvic dehydrogenase|pyruvate decarboxylase deficiency|pyruvate dehydrogenase deficiency|pyruvate dehydrogenase complex deficiency disease|PDH|pyruvate dehydrogenase complex deficiency	http://purl.obolibrary.org/obo/MONDO_0019169	Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency.	DOID:3649|UMLS:C0034345|MESH:D015325|SNOMEDCT:46683007|UMLS:C2936911|MESH:C536257|ORPHA:765|NCIT:C103968
MONDO:0019166	obsolete strongyloidiasis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019166		
MONDO:0019165	central precocious puberty	biolink:Disease	mondo	UMLS:C0342543|ICD9:259.1|MESH:C562787|Orphanet:759|ICD10:E22.8|OMIMPS:176400|SCTID:237816004	ordo_disease	gonadotropin-dependent precocious puberty|gonadotropin-dependant precocious puberty|CPP|precocious puberty, central	http://purl.obolibrary.org/obo/MONDO_0019165	Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys).	MESH:C562787|SNOMEDCT:237816004|ORPHA:759|UMLS:C0342543
MONDO:0019168	pyomyositis	biolink:Disease	mondo	Orphanet:764|EFO:1001409|SCTID:65110003|UMLS:C1704275|ICD10:M60.0|ICD9:040.81|NCIT:C128382|MESH:D052880|UMLS:C0041188|GARD:0004614|MedDRA:10037652|DOID:876	ordo_disease|gard_rare	PM|myositis purulenta tropica|myositis tropicans|suppurative myositis|tropical pyomyositis	http://purl.obolibrary.org/obo/MONDO_0019168	Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation.	UMLS:C1704275|MESH:D052880|SNOMEDCT:65110003|MEDDRA:10037652|UMLS:C0041188|NCIT:C128382|DOID:876|ORPHA:764
MONDO:0019167	immunoglobulin a vasculitis	biolink:Disease	mondo	ICD10:D69.0|Orphanet:761|SCTID:86074002|GARD:0008204	ordo_disease	anaphylactoid purpura|Henoch Schonlein purpura|IgA vasculitis|rheumatoid purpura|vascular purpura|purpura rheumatica|Henoch-SchC6nlein purpura|purpura, Schonlein-Henoch	http://purl.obolibrary.org/obo/MONDO_0019167	SchC6nlein-Henoch purpura (SHP) is a systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement.	SNOMEDCT:86074002|ORPHA:761
MONDO:0019151	oligocone trichromacy	biolink:Disease	mondo	UMLS:C4302876|SCTID:722066001|Orphanet:75378|UMLS:CN205696	ordo_disease	Oligocone syndrome	http://purl.obolibrary.org/obo/MONDO_0019151	Oligocone trichromacy is a rare non-progressive form of cone photoreceptor dysfunction characterised by reduced visual acuity, normal retinal appearance, absent or reduced cone responses on electroretinography but normal colour vision.	UMLS:C4302876|SNOMEDCT:722066001|UMLS:CN205696|ORPHA:75378
BSPO:0000099	posterior_to	biolink:OntologyClass	mondo			caudal_to	http://purl.obolibrary.org/obo/BSPO_0000099	x posterior_to y iff x is further along the antero-posterior axis than y, towards the body/tail. An antero-posterior axis is an axis that bisects an organism from head end to opposite end of body or tail.	
MONDO:0020140	obsolete late-onset ataxia with dementia	biolink:Disease	mondo	Orphanet:98540	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020140		ORPHA:98540
MONDO:0019150	familial isolated restrictive cardiomyopathy	biolink:Disease	mondo	ICD10:I42.5|Orphanet:75249|UMLS:CN205687	ordo_disease	familial or idiopathic restrictive cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0019150	Familial restrictive cardiomyopathy is a genetic form of heart disease, in which the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles.	UMLS:CN205687|ORPHA:75249
BSPO:0000098	dorsal_to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BSPO_0000098	x dorsal_to y iff x is further along the dorso-ventral axis than y, towards the back. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly).	
MONDO:0019153	brain malformation-congenital heart disease-postaxial polydactyly syndrome	biolink:Disease	mondo	SCTID:717943008|UMLS:C4303545|ICD10:Q87.8|Orphanet:75389	ordo_malformation_syndrome	Goossens-Devriendt syndrome	http://purl.obolibrary.org/obo/MONDO_0019153	Goossens-Devriendt syndrome is characterised by intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation, abnormal hair with temporal balding, and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay.	ORPHA:75389|SNOMEDCT:717943008|UMLS:C4303545
MONDO:0019152	Oguchi disease	biolink:Disease	mondo	Orphanet:75382|ICD10:H53.6|GARD:0010118|MESH:C537743	gard_rare|ordo_malformation_syndrome	stationary night blindness, Oguchi type|congenital stationary night blindness, Oguchi type|Oguchi syndrome	http://purl.obolibrary.org/obo/MONDO_0019152	Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness and the Mizuo-Nakamura phenomenon.	UMLS:C1306122|ORPHA:75382|MESH:C537743
MONDO:0020148	syndromic aniridia	biolink:Disease	mondo	UMLS:CN227798|Orphanet:98557	ordo_group_of_disorders	syndromic aniridia|syndrome associated with aniridia|syndrome associated with aniridia	http://purl.obolibrary.org/obo/MONDO_0020148	A aniridia that is part of a larger syndrome.	UMLS:CN227798|ORPHA:98557
MONDO:0020147	anophthalmia-microphthalmia syndrome	biolink:Disease	mondo	UMLS:CN120488|ICD10:Q11.2|ICD10:Q11.1|ICD10:Q11.0|Orphanet:98555	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020147		ORPHA:98555|UMLS:CN120488
MONDO:0007168	atelosteogenesis type III	biolink:Disease	mondo	SCTID:725142004|MESH:C579928|Orphanet:56305|GARD:0010608|OMIM:108721|ICD10:Q78.8	ordo_malformation_syndrome	atelosteogenesis, type III; AO3|AOIII|atelosteogenesis type 3|Aoiii|AO3|atelosteogenesis, type 3|atelosteogenesis, type III	http://purl.obolibrary.org/obo/MONDO_0007168	Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.	ORPHA:56305|http://identifiers.org/omim/108721|SNOMEDCT:725142004|MESH:C579928
MONDO:0020146	major induction processes eye anomaly	biolink:Disease	mondo	Orphanet:98554	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020146		ORPHA:98554
MONDO:0007169	ATHS	biolink:Disease	mondo	OMIM:108725		atherosclerosis susceptibility|ATHS|atherosclerosis susceptibility; ATHS|Atherogenic lipoprotein phenotype	http://purl.obolibrary.org/obo/MONDO_0007169		http://identifiers.org/omim/108725
MONDO:0020145	developmental defect of the eye	biolink:Disease	mondo	Orphanet:98553	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020145		ORPHA:98553
MONDO:0020144	cerebrovascular dementia	biolink:Disease	mondo	Orphanet:98549	ordo_group_of_disorders	rare cerebrovascular dementia	http://purl.obolibrary.org/obo/MONDO_0020144		ORPHA:98549
MONDO:0007166	ataxia with fasciculations	biolink:Disease	mondo	UMLS:C1862440|OMIM:108700|MESH:C566246		ataxia with fasciculations	http://purl.obolibrary.org/obo/MONDO_0007166		UMLS:C1862440|MESH:C566246|http://identifiers.org/omim/108700
MONDO:0007167	atelosteogenesis type I	biolink:Disease	mondo	MESH:C535396|ICD10:Q78.8|OMIM:108720|SCTID:725141006|Orphanet:1190|GARD:0009287	ordo_malformation_syndrome	atelosteogenesis type 1|AO1|spondylohumerofemoral hypoplasia|AOI|atelosteogenesis, type I; AO1|AO1|spondylo-humero-femoral dysplasia|atelosteogenesis, type I|atelosteogenesis, type 1|giant cell chondrodysplasia	http://purl.obolibrary.org/obo/MONDO_0007167	Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.	MESH:C535396|ORPHA:1190|UMLS:C0265283|http://identifiers.org/omim/108720|SNOMEDCT:725141006
MONDO:0020143	cerebral lipidosis with dementia	biolink:Disease	mondo	SCTID:16517004|UMLS:C0007788|ICD9:330.1|Orphanet:98544|DOID:10742|COHD:374906	ordo_group_of_disorders	cerebral lipidosis	http://purl.obolibrary.org/obo/MONDO_0020143		DOID:10742|ORPHA:98544|SNOMEDCT:16517004|UMLS:C0007788
MONDO:0007164	spastic ataxia 1	biolink:Disease	mondo	DOID:0050772|UMLS:C1970107|Orphanet:251282|OMIM:108600|ICD10:G11.4|MESH:C566993	ordo_disease	spastic ataxia type 1|autosomal dominant spastic ataxia caused by mutation in VAMP1|SPAX1|autosomal dominant spastic ataxia type 1|spastic ataxia 1, autosomal dominant; SPAX1|VAMP1 autosomal dominant spastic ataxia|spastic ataxia 1, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0007164	Any autosomal dominant spastic ataxia in which the cause of the disease is a mutation in the VAMP1 gene.	ORPHA:251282|UMLS:C1970107|http://identifiers.org/omim/108600|MESH:C566993|DOID:0050772
MONDO:0020142	metabolic disease with dementia	biolink:Disease	mondo	Orphanet:98543|UMLS:CN207023	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020142		UMLS:CN207023|ORPHA:98543
MONDO:0007165	spastic ataxia 7	biolink:Disease	mondo	SCTID:763669001|OMIM:108650|Orphanet:1182|ICD10:G11.4|DOID:0050945|UMLS:C1862441|MESH:C566247	ordo_disease	spastic ataxia 7, autosomal dominant; SPAX7|spastic ataxia type 7|spastic ataxia 7, autosomal dominant|autosomal dominant spastic ataxia type 7|spastic ataxia with congenital miosis|miosis, congenital, with spastic ataxia|SPAX7	http://purl.obolibrary.org/obo/MONDO_0007165	Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present.	DOID:0050945|SNOMEDCT:763669001|UMLS:C1862441|ORPHA:1182|MESH:C566247|http://identifiers.org/omim/108650
MONDO:0020141	obsolete infectious disease with dementia	biolink:Disease	mondo	Orphanet:98542|UMLS:CN207022	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020141		ORPHA:98542|UMLS:CN207022
MONDO:0007162	asymmetric short stature syndrome	biolink:Disease	mondo	OMIM:108450|UMLS:C1862458|MESH:C566248		asymmetric short stature syndrome	http://purl.obolibrary.org/obo/MONDO_0007162		UMLS:C1862458|http://identifiers.org/omim/108450|MESH:C566248
MONDO:0007163	episodic ataxia type 2	biolink:Disease	mondo	DOID:0050990|ICD10:G11.8|Orphanet:97|GARD:0009602|MESH:C535506|OMIM:108500|SCTID:420932006|UMLS:C1720416	ordo_disease	episodic ataxia, type 2; EA2|EA2|CACNA1A hereditary episodic ataxia|ataxia, familial, paroxysmal|familial paroxysmal ataxia|cerebellar ataxia, paroxysmal, Acetazolamide-responsive|ataxia, familial paroxysmal|Acetazolamide-responsive hereditary paroxysmal cerebellar ataxia|hereditary episodic ataxia caused by mutation in CACNA1A|ataxia, episodic, with Nystagmus|episodic ataxia, Nystagmus-associated|Acetazolamide-responsive episodic ataxia syndrome|CAPA|Nystagmus-associated episodic ataxia|APCA|Cerebellopathy, hereditary paroxysmal|Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia|episodic ataxia, type 2|episodic ataxia type 2|episodic ataxia with nystagmus	http://purl.obolibrary.org/obo/MONDO_0007163	Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia.	UMLS:C1720416|ORPHA:97|SNOMEDCT:420932006|http://identifiers.org/omim/108500|DOID:0050990|MESH:C535506
MONDO:0007160	Stickler syndrome type 1	biolink:Disease	mondo	MESH:C537492|ICD10:Q87.5|GARD:0005018|Orphanet:90653|OMIM:108300	ordo_clinical_subtype	STL1|Stickler syndrome, type I|Stickler syndrome, type I; STL1|Stickler syndrome, membranous vitreous type|Stickler syndrome, type 1|Stickler syndrome, vitreous type 1|arthroophthalmopathy, hereditary progressive	http://purl.obolibrary.org/obo/MONDO_0007160		MESH:C537492|http://identifiers.org/omim/108300|ORPHA:90653
MONDO:0007161	SPGF2	biolink:Disease	mondo	OMIM:108420|DOID:0070164		Aspermiogenesis Factor|spermatogenic failure 2|spermatogenic failure 2; SPGF2|SPGF2	http://purl.obolibrary.org/obo/MONDO_0007161		DOID:0070164|http://identifiers.org/omim/108420
PATO:0000261	maturity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0000261	A quality of a single physical entity which is held by a bearer when the latter exhibits a state of growth, differentiation, or development.	
MONDO:0020139	obsolete early-onset ataxia with dementia	biolink:Disease	mondo	Orphanet:98539	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020139		ORPHA:98539
MONDO:0020138	ataxia with dementia	biolink:Disease	mondo	Orphanet:98538	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020138		ORPHA:98538
MONDO:0019159	Loeffler endocarditis	biolink:Disease	mondo	Orphanet:75566|MedDRA:10052841|NCIT:C27044|DOID:396|SCTID:449829009|ICD10:I42.3	ordo_disease	eosinophilic endocarditis|eosinophilic endomyocardial disease	http://purl.obolibrary.org/obo/MONDO_0019159	Loeffler's endocarditis is a rare restrictive cardiomyopathy characterized by hypereosinophilia and fibrous thickening of the endocardium, with usually large thrombi against the ventricle walls, that can lead to cardiovascular complications such as heart failure and thromboembolism. It manifests with symptoms like edema, fatigue and shortness of breath. It is usually secondary to eosinophil-associated tissue damage and is associated with idiopathic hypereosinophilic syndrome, chronic eosinophilic leukemia, carcinoma, or lymphoma.	NCIT:C27044|SNOMEDCT:449829009|ORPHA:75566|DOID:396|UMLS:C0206143|MEDDRA:10052841
MONDO:0019158	tropical endomyocardial fibrosis	biolink:Disease	mondo	Orphanet:75565|SCTID:715626008|ICD10:I42.3|UMLS:C2882252|UMLS:CN205710	ordo_disease	Davies disease|TEMF	http://purl.obolibrary.org/obo/MONDO_0019158	Tropical endomyocardial fibrosis is a restrictive cardiopathy, occuring almost exclusively in children and young adults in tropical and subtropical regions, characterized by endocardial fibrosis, affecting the apices and the inflow tract of the right or left ventricle (or both) and manifesting with a restrictive cardimyopathy and atrioventricular regurgitation leading to severe pulmonary hypertension, very high systemic venous pressure and congestive cardiac failure. Suspected etiologies include helminth and protozoal infestation and malnutrition.	UMLS:C2882252|UMLS:CN205710|SNOMEDCT:715626008|ORPHA:75565
MONDO:0019155	Leydig cell hypoplasia	biolink:Disease	mondo	GARD:0003244|ICD10:Q56.1|MedDRA:10024406|Orphanet:755	ordo_disease|gard_rare	46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency|LH resistance due to LH receptor deactivation|Male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency|Male hypergonadotropic hypogonadism due to LHCGR defect|46,XY disorder of sex development due to LH defects|Leydig cell agenesis|46,XY DSD due to LH resistance or LHB deficiency|Male pseudohermaphroditism due to LH resistance or LHB deficiency|46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency|46,XY disorder of sex development due to LH resistance or LHB deficiency	http://purl.obolibrary.org/obo/MONDO_0019155	Leydig cell hypoplasia (LCH) is a condition in males that affects sexual development. It is characterized by underdevelopment of the Leydig cells, which are cells in the testes that secrete male sex hormones (androgens) and are important for male sexual development. Individuals with LCH have a typical male genetic make-up (46, XY), but due to lowered levels of androgens, may have a range of genital (reproductive organ) differences. Individuals with LCH may have a small penis (micropenis),the opening of the urethra may be located on the underside of the penis (hypospadias), or the scrotum may be divided into two halves (bifid scrotum). Given these differences in development, the external genitalia may not appear clearly male or female (ambiguous genitalia). Some individuals with LCH can have female external genitalia and small testes that have not descended and are located in the pelvis, abdomen, or groin. This may be referred to as type 1, whereas less severe cases might be called type 2. LCH is inherited in an autosomal recessive manner and is caused by mutations in the LHCGR gene.Although there is no specific treatment or cure for LCH, there may be ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.	MEDDRA:10024406|UMLS:C0860158|ORPHA:755
MONDO:0019154	androgen insensitivity syndrome	biolink:Disease	mondo	MedDRA:10056292|MESH:D013734|OMIM:300068|SCTID:12313004|ICD10:E34.5|UMLS:C0039585|NCIT:C27226|ICD10:E34.51|COHD:440359|ICD10:E34.50|GARD:0005803|ICD9:259.51|ICD9:259.5|ICD9:259.8|DOID:4674|Orphanet:754	ordo_group_of_disorders|gard_rare	AIS|dihydrotestosterone receptor deficiency|Feminisation - testicular|Goldberg - Maxwell syndrome|testicular feminization|androgen-insensitivity syndrome|testicular feminization syndrome (formerly)|Morris syndrome|androgen resistance syndrome|testicular feminization syndrome|androgen insensitivity syndrome; AIS|androgen insensitivity syndrome|Goldberg-Maxwell syndrome|androgen receptor deficiency|AR deficiency|DHTR deficiency	http://purl.obolibrary.org/obo/MONDO_0019154	Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS).	NCIT:C27226|MEDDRA:10056292|SNOMEDCT:12313004|http://identifiers.org/omim/300068|UMLS:C0936016|UMLS:C0039585|MESH:D013734|ORPHA:754|DOID:4674
MONDO:0019157	acquired idiopathic sideroblastic anemia	biolink:Disease	mondo	ICDO:9982/3|Orphanet:75564|NCIT:C4036|SCTID:109998009|ICD9:238.72|EFO:0003812|ICD10:D64.3	ordo_disease	MDS-RS|refractory anemia with ringed sideroblasts|myelodysplastic syndrome with Ring sideroblasts|refractory Anemia with ringed sideroblasts|refractory Anemia with Ring sideroblasts|primary acquired sideroblastic anemia|RARS|AISA|Pure sideroblastic Anemia	http://purl.obolibrary.org/obo/MONDO_0019157	Acquired idiopathic sideroblastic anaemia is one of a group of disorders known as the myelodysplastic syndromes (MDS) characterised by ineffective haemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia. Acquired idiopathic sideroblastic anaemia is now more commonly referred to as refractory anaemia with ringed sideroblasts or the acronym RARS.	NCIT:C4036|ORPHA:75564|SNOMEDCT:109998009
BSPO:0000097	distal_to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BSPO_0000097	x distal_to y iff x is further along the proximo-distal axis than y, towards the appendage tip. A proximo-distal axis extends from tip of an appendage (distal) to where it joins the body (proximal).	
MONDO:0019156	angioosteohypotrophic syndrome	biolink:Disease	mondo	UMLS:CN205707|Orphanet:75508|SCTID:765750001	ordo_malformation_syndrome	Phlebectatic osteohypoplastic angiodysplasia|Servelle-Martorell syndrome	http://purl.obolibrary.org/obo/MONDO_0019156	Angioosteohypotrophic syndrome is a rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported.	UMLS:CN205707|ORPHA:75508|SNOMEDCT:765750001
BSPO:0000096	anterior_to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BSPO_0000096	x anterior_to y iff x is further along the antero-posterior axis than y, towards the head. An antero-posterior axis is an axis that bisects an organism from head end to opposite end of body or tail: bearer	
MONDO:0019140	acute ackee fruit intoxication	biolink:Disease	mondo	GARD:0009299|ICD10:T62.2|MESH:C537562|SCTID:49434001|Orphanet:73423|ICD9:988.2	ordo_disease	Jamaican vomiting syndrome|ackee poisoning|acute intoxication by Blighia sapida|Jamaican vomiting sickness	http://purl.obolibrary.org/obo/MONDO_0019140	Acute ackee fruit intoxication (also referred to as Jamaican vomiting syndrome or sickness) is caused by the ingestion of unripe Blighia sapida fruits. It is a serious intoxication that is frequent in certain countries in the Caribbean and Western Africa. In contrast, it is rare in France and other Western countries. Intoxication leads to toxic hypoglycaemia and inhibition of neoglucogenesis. The hypoglycaemia is caused by the effect of hypoglycin A, which is found in the arils.	SNOMEDCT:49434001|MESH:C537562|ORPHA:73423
MONDO:0022792	coccygodynia	biolink:Disease	mondo	GARD:0005168	gard_rare	coccydynia	http://purl.obolibrary.org/obo/MONDO_0022792	Coccygodynia is a rare condition in that causes pain in and around the coccyx (tailbone). Although various causes have been described for the condition, the more commoncausesare direct falls and injury.	
MONDO:0019142	inherited porphyria	biolink:Disease	mondo	MedDRA:10061356|ICD10:E80.2|ICD10:E80.1|DOID:13268|MedDRA:10036181|COHD:434908|ICD10:E80.0|SCTID:371628009|ICD10:E80.20|UMLS:C0032708|Orphanet:738|ICD9:277.1|NCIT:C97096|GARD:0010353|MESH:D011164	gard_rare|ordo_group_of_disorders	Porphyrinopathy|Hematoporphyria|disorder of porphyrin and hem metabolism|porphyria|hereditary porphyria|disorder of porphyrin and heme metabolism|disorder of porphyrin metabolism	http://purl.obolibrary.org/obo/MONDO_0019142	Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both.	SNOMEDCT:371628009|NCIT:C97096|MEDDRA:10061356|MEDDRA:10036181|UMLS:C0032708|MESH:D011164|ORPHA:738|DOID:13268
MONDO:0022794	chromosome 8 deletion	biolink:Disease	mondo	UMLS:C0265418|NCIT:C36535|GARD:0012070|MESH:C537823		chromosome 8 deletion|Deletions of chromosome 8|del(8)|loss of chromosome 8|Anomaly of chromosome pair 8	http://purl.obolibrary.org/obo/MONDO_0022794	A structural cytogenetic abnormality characterized by partial or complete loss of chromosome 8.	NCIT:C36535|UMLS:C0265418|MESH:C537823
MONDO:0022795	deficiency of coenzyme q cytochrome c reductase	biolink:Disease	mondo	GARD:0001419	gard_rare	coenzyme Q cytochrome c reductase deficiency of	http://purl.obolibrary.org/obo/MONDO_0022795		
MONDO:0019141	porokeratosis of Mibelli	biolink:Disease	mondo	UMLS:C0949506|ICD10:Q82.8|GARD:0004438|SCTID:80432009|ICD9:757.39|Orphanet:735	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019141	Porokeratosis of Mibelli (PM) is a form of porokeratosis that is characterized by the presence of brown single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border.	SNOMEDCT:80432009|UMLS:C0949506|ORPHA:735
MONDO:0022798	Cohen lockood wyborney syndrome	biolink:Disease	mondo	GARD:0001423	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022798		
MONDO:0022799	cold urticaria	biolink:Disease	mondo	GARD:0006131|SCTID:74774004|EFO:1001881|UMLS:C0221207	gard_rare	primary idiopathic cold urticaria|cold contact urticaria|urticaria idiopathic cold	http://purl.obolibrary.org/obo/MONDO_0022799	Cold urticaria is a condition that affects the skin. Signs and symptoms generally include reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and can last for 1-2 hours. The exact cause of cold urticaria is poorly understood in most cases. Rarely, it may be associated with an underlying blood condition or infectious disease. Treatment generally consists of patient education, avoiding exposures that may trigger a reaction, and/or medications.	SNOMEDCT:74774004|UMLS:C0221207
MONDO:0020137	frontotemporal degeneration with dementia	biolink:Disease	mondo	Orphanet:98535|ICD10:G31.0	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020137		ORPHA:98535
MONDO:0020136	obsolete neurodegenerative disease with dementia	biolink:Disease	mondo	UMLS:CN207020|Orphanet:98534	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020136		ORPHA:98534|UMLS:CN207020
MONDO:0020135	pontocerebellar hypoplasia	biolink:Disease	mondo	SCTID:45163000|Orphanet:98523|GARD:0010977|OMIMPS:607596|MESH:C580383|UMLS:CN924922|ICD10:Q04.3|DOID:0060264	gard_rare|ordo_group_of_disorders	pontoneocerebellar atrophy|pontoneocerebllar hypoplasia|pontocerebellar hypoplasia|isolated pontocerebellar hypoplasia|nonsyndromic pontocerebellar hypoplasia|PCH	http://purl.obolibrary.org/obo/MONDO_0020135	Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern.	UMLS:CN924922|ORPHA:98523|MESH:C580383|DOID:0060264|SNOMEDCT:45163000
MONDO:0007179	autoimmune disease	biolink:Disease	mondo	COHD:434621|ICD9:279.4|SCTID:85828009|MESH:D001327|EFO:0005140|NCIT:C2889|ICD9:720|ICD9:279.49|OBI:1110054|DOID:417|OMIM:109100|UMLS:C0004364		autoimmune disease|autoimmune disease or disorder|disease, autoimmune|autoimmune hypersensitivity disease|autoimmune disorder|hypersensitivity reaction type II disease	http://purl.obolibrary.org/obo/MONDO_0007179	A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis).	SNOMEDCT:85828009|UMLS:C0004364|http://identifiers.org/omim/109100|MESH:D001327|NCIT:C2889|DOID:417
MONDO:0020134	cystic malformation of the posterior fossa	biolink:Disease	mondo	SCTID:35111000119109|Orphanet:98520|ICD9:742.4	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020134		SNOMEDCT:35111000119109|ORPHA:98520
MONDO:0007177	auriculoosteodysplasia	biolink:Disease	mondo	OMIM:109000|UMLS:C1862381|GARD:0008663|MESH:C538271|Orphanet:114|ICD10:Q87.5	gard_rare|ordo_malformation_syndrome	auriculo-osteodysplasia|multiple osseous dysplasia, characteristic ear shape, and short stature|auriculoosteodysplasia	http://purl.obolibrary.org/obo/MONDO_0007177	Auriculoosteodysplasia is a very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature.	http://identifiers.org/omim/109000|UMLS:C1862381|MESH:C538271|ORPHA:114
MONDO:0020133	posterior fossa malformation	biolink:Disease	mondo	Orphanet:98519	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020133		ORPHA:98519
MONDO:0007178	aurocephalosyndactyly	biolink:Disease	mondo	Orphanet:1219|UMLS:C1862380|GARD:0009218|OMIM:109050|MESH:C566235		Auralcephalosyndactyly|Kurczynski-Casperson syndrome|aurocephalosyndactyly|aural cephalosyndactyly	http://purl.obolibrary.org/obo/MONDO_0007178		http://identifiers.org/omim/109050|UMLS:C1862380|ORPHA:1219|MESH:C566235
MONDO:0020132	cranial nerve and nuclear aplasia	biolink:Disease	mondo	Orphanet:98518	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020132		ORPHA:98518
MONDO:0022790	cleft tongue	biolink:Disease	mondo	GARD:0001395	gard_rare	cleft tongue syndrome|bifid tongue	http://purl.obolibrary.org/obo/MONDO_0022790		
MONDO:0007175	PR interval, variation 1N	biolink:Disease	mondo	OMIM:108980|UMLS:C3152251		PR interval, variation type 1N|PR interval, variation IN|Atrioventricular conduction time, variation 1N	http://purl.obolibrary.org/obo/MONDO_0007175		UMLS:C3152251|http://identifiers.org/omim/108980
MONDO:0020131	malformation of the cerebellar hemispheres	biolink:Disease	mondo	Orphanet:98516|ICD10:Q04.3	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020131		ORPHA:98516
MONDO:0007176	helicoid peripapillary chorioretinal degeneration	biolink:Disease	mondo	ICD10:H31.2|UMLS:C1862382|OMIM:108985|SCTID:724384008|MESH:C566236|Orphanet:86813|DOID:0111228	ordo_disease	peripapillary chorioretinal Degeneration, Icelandic type|SVEINSSON chorioretinal atrophy; SCRA|Sveinsson chorioretinal atrophy|SCRA|atrophia areata|helicoidal peripapillary chorioretinal Degeneration|SVEINSSON chorioretinal atrophy	http://purl.obolibrary.org/obo/MONDO_0007176	Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease.	SNOMEDCT:724384008|UMLS:C1862382|MESH:C566236|ORPHA:86813|http://identifiers.org/omim/108985|DOID:0111228
MONDO:0022791	coarse face hypotonia constipation	biolink:Disease	mondo	GARD:0001412	gard_rare	Sondheimer syndrome	http://purl.obolibrary.org/obo/MONDO_0022791		
MONDO:0020130	malformation of the cerebellar vermis	biolink:Disease	mondo	Orphanet:98514	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020130		ORPHA:98514
MONDO:0007173	atrial heart septal defect 7	biolink:Disease	mondo	DOID:0110112|UMLS:C3502353|Orphanet:1479|OMIM:108900|ICD10:Q21.1	ordo_malformation_syndrome	atrial septal defect 7, with or without AV conduction defects|ASD with or without atrioventricular conduction defects|NKX2-5 atrial heart septal defect|ASD with or without atrioventricular conduction defects|atrial heart septal defect type 7|atrial septal defect-atrioventricular conduction defects syndrome|ASD7|atrial septal defect 7 with or without atrioventricular conduction defects; ASD7|atrial heart septal defect caused by mutation in NKX2-5|atrial septal defect 7 with or without atrioventricular conduction defects	http://purl.obolibrary.org/obo/MONDO_0007173	Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.	UMLS:C3502353|ORPHA:1479|http://identifiers.org/omim/108900|DOID:0110112
MONDO:0007174	Lown-Ganong-Levine syndrome	biolink:Disease	mondo	Orphanet:844|UMLS:C0024054|ICD9:426.81|COHD:437892|SCTID:55475008|MedDRA:10024984|DOID:13087|OMIM:108950|MESH:D008151|UMLS:C1862387|ICD10:I45.6	ordo_disease	syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias|Lown-Ganong-Levine syndrome|atrial tachyarrhythmia with short PR interval|LGL syndrome	http://purl.obolibrary.org/obo/MONDO_0007174	Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia).	UMLS:C1862387|SNOMEDCT:55475008|MEDDRA:10024984|MESH:D008151|DOID:13087|http://identifiers.org/omim/108950|UMLS:C0024054|ORPHA:844
MONDO:0007171	atrial standstill 1	biolink:Disease	mondo	OMIM:108770		atrial cardiomyopathy with heart block|atrial standstill type 1|atrial standstill caused by mutation in GJA5|atrial standstill 1; ATRST1|ATRST1|GJA5 atrial standstill|cardiomyopathy, familial, with conduction disturbance|atrial standstill 1	http://purl.obolibrary.org/obo/MONDO_0007171	Any atrial standstill in which the cause of the disease is a mutation in the GJA5 gene.	http://identifiers.org/omim/108770
MONDO:0007172	atrial heart septal defect 1	biolink:Disease	mondo	UMLS:C1862389|OMIM:108800|ICD10:Q21.1|DOID:0110106		ASD 2|ASD 1|atrial septal defect, primum type|ASD1|atrial septal defect 1|atrial septal defect, secundum type|atrial heart septal defect type 1|atrial septal defect 1; ASD1	http://purl.obolibrary.org/obo/MONDO_0007172	An atrial heart septal defect type 1 associated with variation in the region 5p.	UMLS:C1862389|http://identifiers.org/omim/108800|DOID:0110106
MONDO:0020129	acquired motor neuron disease	biolink:Disease	mondo	Orphanet:98506|UMLS:CN207019	ordo_group_of_disorders	acquired motor neuron disease|acquired anterior horn cell disease	http://purl.obolibrary.org/obo/MONDO_0020129	An instance of motor neuron disease that is acquired during the lifetime of the individual.	UMLS:CN207019|ORPHA:98506
MONDO:0007170	atresia of external auditory canal and conductive deafness	biolink:Disease	mondo	UMLS:C3276095|OMIM:108760		atresia of external auditory canal and conductive deafness	http://purl.obolibrary.org/obo/MONDO_0007170		http://identifiers.org/omim/108760|UMLS:C3276095
MONDO:0020128	motor neuron disease	biolink:Disease	mondo	EFO:0003782|ICD10:G12.20|ICD9:335.2|DOID:231|SCTID:37340000|MESH:D016472|ICD9:335.9|ICD10:G12.2|COHD:374631|Orphanet:98503|ICD9:335.8|MedDRA:10028003	ordo_group_of_disorders	motor neuron disease|motor neuron disease or disorder|disorder of motor neuron|disease of motor neuron|disease or disorder of motor neuron|disorder of motor neuron|anterior horn cell disease	http://purl.obolibrary.org/obo/MONDO_0020128	A disease involving the motor neuron.	MESH:D016472|UMLS:C0085084|SNOMEDCT:37340000|DOID:231|ORPHA:98503|MEDDRA:10028003
MONDO:0020127	genetic peripheral neuropathy	biolink:Disease	mondo	Orphanet:98497	ordo_group_of_disorders|clingen	genetic peripheral neuropathy	http://purl.obolibrary.org/obo/MONDO_0020127	Genetic peripheral neuropathy.	ORPHA:98497
MONDO:0019148	Wolman disease	biolink:Disease	mondo	UMLS:C0043208|NCIT:C61271|MESH:D015223|Orphanet:75233|MedDRA:10053687|SCTID:82500001|DOID:14497|ICD10:E75.5|GARD:0007899|SCTID:238074007|UMLS:CN438428	ordo_clinical_subtype	primary familial xanthomatosis|familial visceral xanthomatosis|lysosomal acid lipase deficiency|acid esterase deficiency|acid lipase deficiency|Wolman xanthomatosis|Wolman's or triglyceride storage type III disease|primary familial xanthomatosis with adrenal calcification|deficiency of cholesterol esterase and triacylglycerol lipase|Wolman's disease|liposomal acid lipase deficiency, Wolman type|Wolman disease|xanthomatosis, familial|familial xanthomatosis	http://purl.obolibrary.org/obo/MONDO_0019148	Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease. The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues.	DOID:14497|NCIT:C61271|SNOMEDCT:82500001|MESH:D015223|ORPHA:75233|UMLS:CN438428|UMLS:C0043208|MEDDRA:10053687
MONDO:0019147	myiasis	biolink:Disease	mondo	ICD10:B87|DOID:11080|MedDRA:10028586|ICD10:B87.8|ICD9:134.0|EFO:0007389|MESH:D009198|Orphanet:75110|ICD10:B87.4|ICD10:B87.3|ICD10:B87.2|ICD10:B87.1|ICD10:B87.0|UMLS:C0027030|ICD10:B87.9|SCTID:60412004|NCIT:C128400	ordo_group_of_disorders	myiasis, unspecified|maggot infestation|infestation by maggots|infestation by fly larvae	http://purl.obolibrary.org/obo/MONDO_0019147	The infection of a fly larva (maggot) in human tissue, which most commonly occurs in tropical climates. Affected tissues most commonly include skin, especially if open wounds are present, nasal passages, ears, and eyes.	NCIT:C128400|SNOMEDCT:60412004|MEDDRA:10028586|DOID:11080|ORPHA:75110|UMLS:C0027030|MESH:D009198
MONDO:0019149	cholesteryl ester storage disease	biolink:Disease	mondo	SCTID:57218003|GARD:0012099|ICD10:E75.5|UMLS:C0008384|Orphanet:75234|DOID:14502	ordo_clinical_subtype	cholesterol ester storage disease|CESD	http://purl.obolibrary.org/obo/MONDO_0019149	Cholesteryl ester storage disease (CESD) is a very rare, late-onset, genetic endocrine disease characterized by deficient or inactive lysosomal acid lipase (LAL) causing lipid build-up, which leads to atherosclerosis, hepatomegaly, splenomegaly, progressive liver disease, and malabsorption.	UMLS:C0008384|SNOMEDCT:57218003|DOID:14502|ORPHA:75234
MONDO:0019144	hereditary thrombophilia due to congenital protein S deficiency	biolink:Disease	mondo	Orphanet:743|ICD10:D68.5	ordo_disease	autosomal recessive thrombophilia due to congenital protein S deficiency|severe hereditary thrombophilia due to congenital protein S deficiency	http://purl.obolibrary.org/obo/MONDO_0019144	Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S.	ORPHA:743
MONDO:0019143	angiostrongyliasis	biolink:Disease	mondo	SCTID:61750000|DOID:0050256|GARD:0000683|UMLS:C0392662|MedDRA:10069517|Orphanet:74|NCIT:C128394|MESH:C536369|ICD9:128.8|ICD10:B83.2|ICD10:B81.3	ordo_disease|gard_rare		http://purl.obolibrary.org/obo/MONDO_0019143	A foodborne zoonotic disease, endemic to Southeast Asia and the Pacific Islands, caused by the rat lungworm Angiostrongylus cantonensis and that is acquired by the ingestion of the infective larvae on vegetables or in raw or undercooked snails, slugs, land crabs, freshwater shrimps, frogs and lizards. The main feature is eosinophilic meningitis, with clinical manifestations including fever, headache, malaise, fatigue, vomiting, rhinorrhea, blurred vision, diplopia, cough, stiff neck, enteritis, constipation and paraesthesia due to the movement of the worms from the intestines to the lungs, central nervous system and eyes. In severe cases without treatment, coma and death can occur.	MEDDRA:10069517|ORPHA:74|UMLS:C0392662|SNOMEDCT:61750000|DOID:0050256|NCIT:C128394|MESH:C536369
MONDO:0019146	inherited susceptibility to mycobacterial diseases	biolink:Disease	mondo	GARD:0012977|ICD10:D84.8|UMLS:CN181681|Orphanet:748|UMLS:C3266863	ordo_group_of_disorders|predisposition	MSMD|Mendelian susceptibility to mycobacterial infections|Mendelian susceptibility to atypical mycobacteria|Mycobacterium genetic susceptibility to infections due to particular pathogens|idiopathic infection caused by BCG or atypical mycobacteria|Mycobacterium caused genetic susceptibility to infections due to particular pathogens	http://purl.obolibrary.org/obo/MONDO_0019146	Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized.	ORPHA:748|UMLS:C3266863|UMLS:CN181681
MONDO:0019145	hereditary thrombophilia due to congenital protein C deficiency	biolink:Disease	mondo	ICD10:D68.2|NCIT:C99025|SCTID:76407009|MESH:D020151|ICD10:D68.59|DOID:3756|MESH:C535424|Orphanet:745	ordo_disease	autosomal recessive thrombophilia due to PC deficiency|severe hereditary thrombophilia due to congenital protein C deficiency|Protein C deficiency|Protein C deficiency disease|autosomal recessive thrombophilia due to congenital protein C deficiency|hereditary thrombophilia due to PC deficiency|protein C deficiency	http://purl.obolibrary.org/obo/MONDO_0019145	Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C.	ORPHA:745|SNOMEDCT:76407009|NCIT:C99025|MESH:C535424|DOID:3756|MESH:D020151
RO:0002490	existence overlaps	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002490	x existence overlaps y if and only if either (a) the start of x is part of y or (b) the end of x is part of y. Formally: x existence starts and ends during y iff (α(x) >= α(y) & α(x) <= ω(y)) OR (ω(x) <= ω(y) & ω(x) >= α(y))	
GO:0005499	vitamin D binding	biolink:OntologyClass	mondo			ergocalciferol binding|cholecalciferol binding|calciferol binding	http://purl.obolibrary.org/obo/GO_0005499	Interacting selectively and non-covalently with vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3).	
RO:0002495	immediate transformation of	biolink:OntologyClass	mondo			direct_transformation_of|immediately transforms from	http://purl.obolibrary.org/obo/RO_0002495	x immediate transformation of y iff x immediately succeeds y temporally at a time boundary t, and all of the matter present in x at t is present in y at t, and all the matter in y at t is present in x at t	
GO:0005497	androgen binding	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0005497	Interacting selectively and non-covalently with any androgen, male sex hormones.	
RO:0002496	existence starts during or after	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002496	x existence starts during or after y if and only if the time point at which x starts is after or equivalent to the time point at which y starts. Formally: x existence starts during or after y iff α (x) >= α (y).	
RO:0002497	existence ends during or before	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002497	x existence ends during or before y if and only if the time point at which x ends is before or equivalent to the time point at which y ends.	
GO:0005496	steroid binding	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0005496	Interacting selectively and non-covalently with a steroid, any of a large group of substances that have in common a ring system based on 1,2-cyclopentanoperhydrophenanthrene.	
RO:0002491	existence starts and ends during	biolink:OntologyClass	mondo			exists during	http://purl.obolibrary.org/obo/RO_0002491	x exists during y if and only if: 1) the time point at which x begins to exist is after or equal to the time point at which y begins and 2) the time point at which x ceases to exist is before or equal to the point at which y ends. Formally: x existence starts and ends during y iff α(x) >= α(y) & α(x) <= ω(y) & ω(x) <= ω(y) & ω(x) >= α(y)	
RO:0002492	existence ends during	biolink:OntologyClass	mondo			ceases_to_exist_during	http://purl.obolibrary.org/obo/RO_0002492	x existence ends during y if and only if the time point at which x ends is before or equivalent to the time point at which y ends and after or equivalent to the point at which y starts. Formally: x existence ends during y iff ω(x) <= ω(y) and ω(x) >= α(y).	
RO:0002493	existence ends with	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002493	Relation between continuant and occurrent, such that c ceases to exist at the end of p.	
RO:0002494	transformation of	biolink:OntologyClass	mondo			transforms from	http://purl.obolibrary.org/obo/RO_0002494	x transformation of y if x is the immediate transformation of y, or is linked to y through a chain of transformation relationships	
HGNC:29284	DIP2B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29284		
RO:0002488	existence starts during	biolink:OntologyClass	mondo			begins_to_exist_during	http://purl.obolibrary.org/obo/RO_0002488	Relation between continuant c and occurrent s, such that every instance of c comes into existing during some s.	
RO:0002489	existence starts with	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002489	x starts ends with y if and only if the time point at which x starts is equivalent to the time point at which y starts. Formally: x existence starts with y iff α(x) = α(y).	
MONDO:0020195	excretory apparatus of the lacrimal system anomaly	biolink:Disease	mondo	Orphanet:98605	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020195		ORPHA:98605
MONDO:0020194	congenital alacrima	biolink:Disease	mondo	Orphanet:98604	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020194		ORPHA:98604
MONDO:0020193	secretory apparatus of the lacrimal system anomaly	biolink:Disease	mondo	Orphanet:98603	ordo_group_of_disorders	disease of lacrimal gland|disorder of lacrimal gland|lacrimal gland disease	http://purl.obolibrary.org/obo/MONDO_0020193		ORPHA:98603
MONDO:0020192	obsolete rare lacrimal system disease	biolink:Disease	mondo	Orphanet:98602	obsoletion_candidate|ordo_group_of_disorders	rare lacrimal apparatus disease	http://purl.obolibrary.org/obo/MONDO_0020192	Any of the forms of lacrimal apparatus disease that have a rare incidence.	ORPHA:98602
GO:0030449	regulation of complement activation	biolink:OntologyClass	mondo			regulation of complement cascade	http://purl.obolibrary.org/obo/GO_0030449	Any process that modulates the frequency, rate or extent of complement activation.	
MONDO:0020191	obsolete eyebrow/eyelashes pigmentation anomaly	biolink:Disease	mondo	Orphanet:98601	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020191		ORPHA:98601
MONDO:0020190	obsolete eyebrow/eyelashes distichiasis	biolink:Disease	mondo	Orphanet:98600	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020190		ORPHA:98600
RO:0002485	receives input from	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002485		
RO:0002486	sends output to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002486		
RO:0002487	relation between physical entity and a process or stage	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002487		
MONDO:0020199	obsolete conjunctival vascular anomaly	biolink:Disease	mondo	Orphanet:98611			http://purl.obolibrary.org/obo/MONDO_0020199		ORPHA:98611
HGNC:29298	CEP152	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29298		
MONDO:0020198	obsolete rare conjunctival disease	biolink:Disease	mondo	Orphanet:98610		rare conjunctival disease	http://purl.obolibrary.org/obo/MONDO_0020198	Rare conjunctival disease.	ORPHA:98610
RO:0002481	is kinase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002481		
MONDO:0020197	EEC syndrome and related syndrome	biolink:Disease	mondo	UMLS:CN207046|Orphanet:98609	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020197		UMLS:CN207046|ORPHA:98609
MONDO:0044101	pregnancy, cornual	biolink:Disease	mondo	MESH:D065173|SCTID:87605005|NCIT:C92761		cornual pregnancy|ectopic pregnancy of uterine horn|Pregnancies, cornual|uterine horn ectopic pregnancy|cornual Pregnancies|rudimentary horn pregnancy	http://purl.obolibrary.org/obo/MONDO_0044101	An abnormal pregnancy in which the conception is implanted and develops in the cornu of uterus.	SNOMEDCT:87605005|NCIT:C92761|MESH:D065173
MONDO:0020196	anomaly of the secretory and excretory apparatus of the lacrimal system	biolink:Disease	mondo	Orphanet:98608	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020196		ORPHA:98608
RO:0002479	has part that occurs in	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002479	p has part that occurs in c if and only if there exists some p1, such that p has_part p1, and p1 occurs in c.	
MONDO:0019195	hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome	biolink:Disease	mondo	Orphanet:79091|GARD:0009494|ICD10:G71.8|UMLS:CN205775|SCTID:724349009	ordo_disease	Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles|HIBM3|HIBM3|Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia|inclusion body myopathy type 3|Hereditary inclusion body myopathy type 3|Inclusion body myopathy autosomal dominant|IBM3|IBM3|hereditary inclusion body myopathy type 3	http://purl.obolibrary.org/obo/MONDO_0019195	Hereditary inclusion body myopathy type 3 is characterised by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive.	SNOMEDCT:724349009|ORPHA:79091|UMLS:CN205775
MONDO:0020184	obsolete rare eyebrow/eyelashes anomaly	biolink:Disease	mondo	UMLS:CN227808|Orphanet:98594	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020184		UMLS:CN227808|ORPHA:98594
MONDO:0019194	localized lipodystrophy	biolink:Disease	mondo	ICD10:E88.1|GARD:0005867|NCIT:C131814|UMLS:CN227583|UMLS:C4329999|Orphanet:79088	gard_rare|ordo_group_of_disorders	centrifugal lipodystrophy (subtype)|focal lipodystrophy|pressure-induced localized lipoatrophy (subtype)|idiopathic localized lipodystrophy (subtype)|drug-induced localized lipodystrophy (subtype)|panniculitis and localized lipodystrophy (subtype)	http://purl.obolibrary.org/obo/MONDO_0019194	Localised lipodystrophies are characterised by loss of subcutaneous tissue from small regions of the body.	UMLS:CN227583|UMLS:C4329999|ORPHA:79088|NCIT:C131814
MONDO:0020183	neurogenic palpebral tumor	biolink:Disease	mondo	Orphanet:98593|UMLS:CN207043	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0020183		UMLS:CN207043|ORPHA:98593
HGNC:17282	RIMS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17282		
MONDO:0019197	folinic acid-responsive seizures	biolink:Disease	mondo	Orphanet:79097|SCTID:717276003|UMLS:CN205780|ICD10:G40.3	ordo_disease	Folinic acid responsive seizures	http://purl.obolibrary.org/obo/MONDO_0019197	Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid.	SNOMEDCT:717276003|ORPHA:79097|UMLS:CN205780
MONDO:0020182	palpebral tumor with a vascular malformation	biolink:Disease	mondo	Orphanet:98592|UMLS:CN207042	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020182		ORPHA:98592|UMLS:CN207042
MONDO:0019196	Foix-Alajouanine syndrome	biolink:Disease	mondo	SCTID:230379007|UMLS:CN205776|Orphanet:79093|ICD9:323.9|ICD10:G37.4	ordo_malformation_syndrome	angiodysgenetic necrotizing myelopathy|Subacute ascending necrotizing myelitis|familial osteosclerosis with abnormalities of the nervous system and meninges|Subacute necrotizing myelitis|Subacute angiohypertrophic myelomalacia	http://purl.obolibrary.org/obo/MONDO_0019196	Foix-Alajouanine syndrome, also called subacute ascending necrotising myelitis, results from chronic congestion of the extrinsic pial veins of the spinal cord and of the intrinsic subpial network. It is characterised by progressive ascending deficit over a period of several months or years.	SNOMEDCT:230379007|ORPHA:79093|UMLS:CN205776
MONDO:0020181	mesenchymatous palpebral tumor	biolink:Disease	mondo	Orphanet:98591|UMLS:CN207041	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020181		UMLS:CN207041|ORPHA:98591
HGNC:17284	POT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17284		
MONDO:0019191	IgG4-related dacryoadenitis and sialadenitis	biolink:Disease	mondo	SCTID:7826003|ICD10:K11.8|MESH:D008882|DOID:12900|UMLS:C0026103|MedDRA:10052317|NCIT:C34819|MedDRA:10051457|Orphanet:79078|GARD:0007043	ordo_disease|gard_rare	Mikulicz's disease (former)|Mikulicz's disease|Mikulicz disease (former)|Mikulicz syndrome (former)|Mikulicz disease|chronic dacryoadenitis and sialadenitis	http://purl.obolibrary.org/obo/MONDO_0019191	IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis.	UMLS:C0026103|MEDDRA:10052317|MEDDRA:10051457|NCIT:C34819|ORPHA:79078|MESH:D008882|DOID:12900|SNOMEDCT:7826003
MONDO:0020180	palpebral piliary tumor	biolink:Disease	mondo	Orphanet:98590|UMLS:CN207040	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020180		ORPHA:98590|UMLS:CN207040
MONDO:0019190	juvenile polyposis of infancy	biolink:Disease	mondo	UMLS:CN205768|ICD10:D12.6|Orphanet:79076	ordo_clinical_subtype	infantile onset juvenile polyposis syndrome|juvenile polyposis syndrome of infancy|infantile juvenile polyposis syndrome	http://purl.obolibrary.org/obo/MONDO_0019190	Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life.	ORPHA:79076|UMLS:CN205768
MONDO:0019193	acquired generalized lipodystrophy	biolink:Disease	mondo	GARD:0012603|Orphanet:79086|DOID:0080300|SCTID:86907008|UMLS:C0271693|ICD10:E88.1|NCIT:C131089	ordo_disease|gard_rare	acquired generalized lipodystrophy|Lawrence syndrome|Lawrence-Seip syndrome|acquired lipoatrophic diabetes	http://purl.obolibrary.org/obo/MONDO_0019193	Acquired generalized lipodystrophy belongs to a group of lipodystrophic syndromes characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles).	UMLS:C0271693|DOID:0080300|NCIT:C131089|ORPHA:79086|SNOMEDCT:86907008
MONDO:0019192	AKT2-related familial partial lipodystrophy	biolink:Disease	mondo	Orphanet:79085|UMLS:CN536246|UMLS:CN205772|ICD10:E88.1|GARD:0012599	ordo_disease	AKT2-related FPLD|familial partial lipodystrophy due to AKT2 mutations	http://purl.obolibrary.org/obo/MONDO_0019192		ORPHA:79085|UMLS:CN536246|UMLS:CN205772
RO:0002473	composed primarily of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002473	x composed_primarily_of y if and only if more than half of the mass of x is made from y or units of the same type as y.	
MONDO:0020189	obsolete eyebrow/eyelashes structural anomaly	biolink:Disease	mondo	Orphanet:98599	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020189		ORPHA:98599
MONDO:0020188	obsolete congenital absence of the eyebrow/eyelashes	biolink:Disease	mondo	Orphanet:98598	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020188		ORPHA:98598
MONDO:0020187	obsolete eyelashes hypertrophy	biolink:Disease	mondo	Orphanet:98597	ordo_group_of_disorders	eyelashes trichomegalia|eyelashes polytrichia	http://purl.obolibrary.org/obo/MONDO_0020187		ORPHA:98597
MONDO:0020186	obsolete eyebrow hypertrophy	biolink:Disease	mondo	Orphanet:98596	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020186		ORPHA:98596
MONDO:0044113	bullous systemic lupus erythematosus	biolink:Disease	mondo	UMLS:C0409977|EFO:0008619|SCTID:239889005|NCIT:C117104|Orphanet:46489		bullous systemic lupus erythematosus|BSLE	http://purl.obolibrary.org/obo/MONDO_0044113	A manifestation of systemic lupus erythematosus with a widespread vesiculobullous eruption.	UMLS:C0409977|ORPHA:46489|SNOMEDCT:239889005|NCIT:C117104
MONDO:0020185	obsolete eyebrow/eyelashes hypertrichosis	biolink:Disease	mondo	ICD10:L68.2|Orphanet:98595	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020185		ORPHA:98595
HGNC:30262	PYCR2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30262		
HGNC:29262	IFT80	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29262		
HGNC:30260	PNPO	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30260		
GO:0030431	sleep	biolink:OntologyClass	mondo			diapause|dormancy|lethargus	http://purl.obolibrary.org/obo/GO_0030431	Any process in which an organism enters and maintains a periodic, readily reversible state of reduced awareness and metabolic activity. Usually accompanied by physical relaxation, the onset of sleep in humans and other mammals is marked by a change in the electrical activity of the brain.	
MONDO:0019199	interstitial granulomatous dermatitis with arthritis	biolink:Disease	mondo	Orphanet:79099|UMLS:CN205782	ordo_disease	IGDA|Ackerman dermatitis syndrome	http://purl.obolibrary.org/obo/MONDO_0019199	Interstitial granulomatous dermatitis with arthritis is a rare rheumatologic disease characterized by the occurrence of inflammatory arthritis in association with large, erythematous, symmetrical cutaneous lesions (ranging from typical, but infrequent, cord-like lesions on the flanks to more common violaceous plaques on the trunk and limbs) featuring a typical histologic infiltrate mainly constituted of histiocytes.	ORPHA:79099|UMLS:CN205782
MONDO:0019198	sympathetic ophthalmia	biolink:Disease	mondo	DOID:12029|EFO:1001205|Orphanet:79098|MedDRA:10042742|MESH:D009879|ICD9:360.11|UMLS:C0029077|SCTID:75315001|ICD10:H44.13|ICD10:H44.1	ordo_disease	sympathetic ophthalmia|sympathetic uveitis	http://purl.obolibrary.org/obo/MONDO_0019198	Sympathetic ophthalmia (SO) is a bilateral granulomatous anterior uveitis usually occurring within the three months following trauma or a surgical procedure involving one eye.	MEDDRA:10042742|MESH:D009879|ORPHA:79098|DOID:12029|SNOMEDCT:75315001|UMLS:C0029077
HGNC:17288	APOA5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17288		
MONDO:0020173	benign tumor of palpebral epidermis	biolink:Disease	mondo	UMLS:CN207034|Orphanet:98582	ordo_group_of_disorders	skin of eyelid benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0020173	A benign neoplasm that involves the skin of eyelid.	UMLS:CN207034|ORPHA:98582
MONDO:0019184	obsolete ankylostomiasis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019184		
MONDO:0020172	palpebral epidermal tumor	biolink:Disease	mondo	UMLS:CN207033|Orphanet:98581|SCTID:126499002	ordo_group_of_disorders	neoplasm of skin of eyelid|skin of eyelid tumor|skin of eyelid neoplasm|tumor of skin of eyelid|skin of eyelid neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0020172	A neoplasm (disease) that involves the skin of eyelid.	ORPHA:98581|UMLS:CN207033|SNOMEDCT:126499002
MONDO:0019183	inherited odontologic disease	biolink:Disease	mondo	UMLS:CN205756|Orphanet:77830	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019183		UMLS:CN205756|ORPHA:77830
MONDO:0019186	Q fever	biolink:Disease	mondo	Orphanet:781|MESH:D011778|MedDRA:10037688|MedDRA:10037731|UMLS:C0034362|ICD9:083.0|NCIT:C34970|GARD:0007515|EFO:0005224|COHD:434567|SCTID:186788009|DOID:11100|ICD10:A78	gard_rare|ordo_disease	Q fever pneumonia|Coxiella burnetii fever|quadrilateral fever|query fever|Coxiella burnetii infectious disease|Coxiella burnetii caused disease or disorder|infection due to Coxiella burnetii|Coxiella burnetii disease or disorder|nine Mile fever|Coxiellosis	http://purl.obolibrary.org/obo/MONDO_0019186	A bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness.	MEDDRA:10037688|MEDDRA:10037731|SNOMEDCT:186788009|ORPHA:781|NCIT:C34970|MESH:D011778|DOID:11100|UMLS:C0034362
HGNC:17296	RRM2B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17296		
MONDO:0020171	obsolete palpebral tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0020171		
MONDO:0020170	obsolete congenital upper palpebral retraction	biolink:Disease	mondo	ICD10:H02.5|Orphanet:98579			http://purl.obolibrary.org/obo/MONDO_0020170		ORPHA:98579
MONDO:0019185	obsolete rhabdomyosarcoma (disease)	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019185		
MONDO:0019180	hereditary hemorrhagic telangiectasia	biolink:Disease	mondo	OMIMPS:187300|GARD:0006626|COHD:313504|MESH:D013683|SCTID:21877004|MedDRA:10019883|NCIT:C35064|ICD10:I78.0|Orphanet:774|DOID:1270|ICD9:448.0|UMLS:C0039445	ordo_disease	Rendu-Osler disease|Rendu-Osler-Weber disease|HHT|Osler hemorrhagic telangiectasia syndrome|Osler-Weber-Rendu disease|telangiectasia, hereditary hemorrhagic|telangiectasia, hereditary Hemorrahagic, of Rendu, Osler	http://purl.obolibrary.org/obo/MONDO_0019180	Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting.	NCIT:C35064|UMLS:C0039445|MEDDRA:10019883|MESH:D013683|SNOMEDCT:21877004|ORPHA:774|DOID:1270
GO:0030424	axon	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0030424	The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter.	
MONDO:0019182	monogenic obesity	biolink:Disease	mondo	Orphanet:77828|OMIM:601665|ICD10:E66.8	ordo_group_of_disorders	genetic obesity (disease)|genetic obesity	http://purl.obolibrary.org/obo/MONDO_0019182		http://identifiers.org/omim/601665|ORPHA:77828
GO:0005488	binding	biolink:OntologyClass	mondo			ligand	http://purl.obolibrary.org/obo/GO_0005488	The selective, non-covalent, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule.	
MONDO:0019181	non-syndromic X-linked intellectual disability	biolink:Disease	mondo	Orphanet:777|UMLS:C3501611|DOID:0050776|GARD:0003542|OMIMPS:309530|MESH:C564490|DC:0000656	clingen|ordo_etiological_subtype	intellectual disability, X-linked, nonsyndromic|non-specific X-linked mental retardation|non-specific X-linked intellectual disability|X-linked non-syndromic intellectual disability|non-syndromic intellectual disability, X-linked|mental retardation, X-linked, nonsyndromic|isolated X-linked intellectual disability|X-linked non-specific intellectual disability|nonsyndromic X-linked intellectual disability|mental retardation, nonsyndromic, X-linked|intellectual disability, nonsyndromic, X-linked|X-linked non-syndromic intellectual disability	http://purl.obolibrary.org/obo/MONDO_0019181	Nonspecific X-linked intellectual deficiencies (MRX) belong to the family of sex-linked intellectual deficiencies (XLMR). In contrast to syndromic or specific X-linked intellectual deficiencies (MRXS), which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only symptom of MRX.	UMLS:C3501611|ORPHA:777|DOID:0050776|MESH:C564490
MONDO:0020179	palpebral nevus	biolink:Disease	mondo	UMLS:C0239460|NCIT:C3880|Orphanet:98588|SCTID:231827008	ordo_group_of_disorders	eyelid Nevus|melanocytic nevus of skin of eyelid|Nevus of eyelid|skin of eyelid melanocytic nevus|Nevus of the eyelid	http://purl.obolibrary.org/obo/MONDO_0020179	A melanocytic nevus that involves the skin of eyelid.	NCIT:C3880|ORPHA:98588|SNOMEDCT:231827008|UMLS:C0239460
RO:0002464	helper property (not for use in curation)	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002464		
MONDO:0020178	palpebral lentiginosis	biolink:Disease	mondo	Orphanet:98587	ordo_group_of_disorders	skin of eyelid lentigo	http://purl.obolibrary.org/obo/MONDO_0020178	A lentigo that involves the skin of eyelid.	ORPHA:98587
MONDO:0020177	pigmented palpebral tumor	biolink:Disease	mondo	UMLS:CN207037|Orphanet:98586	ordo_group_of_disorders	pigmented eyelid tumor|pigmented palpebral neoplasm	http://purl.obolibrary.org/obo/MONDO_0020177		ORPHA:98586|UMLS:CN207037
MONDO:0020176	palpebral sebaceous gland tumor	biolink:Disease	mondo	Orphanet:98585|UMLS:CN207036	ordo_group_of_disorders	neoplasm of sebaceous gland of eyelid|sebaceous gland of eyelid neoplasm|sebaceous gland of eyelid tumor|sebaceous gland of eyelid neoplasm (disease)|tumor of sebaceous gland of eyelid	http://purl.obolibrary.org/obo/MONDO_0020176	A neoplasm (disease) that involves the sebaceous gland of eyelid.	ORPHA:98585|UMLS:CN207036
HGNC:29277	ZNF687	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29277		
MONDO:0020175	malignant tumor of palpebral epidermis	biolink:Disease	mondo	UMLS:CN207035|Orphanet:98584|SCTID:423425006	ordo_group_of_disorders	cancer of skin of eyelid|skin of eyelid cancer|malignant neoplasm of skin of eyelid|malignant skin of eyelid neoplasm	http://purl.obolibrary.org/obo/MONDO_0020175	A cancer that involves the skin of eyelid.	ORPHA:98584|UMLS:CN207035|SNOMEDCT:423425006
MONDO:0020174	precancerous lesion of palpebral epidermis	biolink:Disease	mondo	Orphanet:98583	ordo_group_of_disorders	skin of eyelid precancerous condition	http://purl.obolibrary.org/obo/MONDO_0020174	A precancerous condition that involves the skin of eyelid.	ORPHA:98583
GO:0030421	defecation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0030421	The expulsion of feces from the rectum.	
MONDO:0019188	Rubinstein-Taybi syndrome	biolink:Disease	mondo	SCTID:45582004|DOID:1933|UMLS:C0035934|MedDRA:10039281|OMIMPS:180849|Orphanet:783|MESH:D012415|ICD10:Q87.2|NCIT:C75466|ICD9:759.89|GARD:0007593	ordo_malformation_syndrome	Broad thumb-hallux syndrome|Rubinstein syndrome|RSTS|Broad thumbs-halluces syndrome|proximal chromosome 16p13.3 deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0019188	Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics.	SNOMEDCT:45582004|DOID:1933|MESH:D012415|NCIT:C75466|ORPHA:783|UMLS:C0035934|MEDDRA:10039281
MONDO:0019187	Axenfeld-Rieger syndrome	biolink:Disease	mondo	DOID:14686|ICD10:Q13.8|NCIT:C131001|Orphanet:782|UMLS:CN776842|SCTID:47507006|MESH:C535679|GARD:0005701|MedDRA:10059255|ICD9:743.44|UMLS:C3495488|OMIMPS:180500|ICD10:Q13.81	ordo_malformation_syndrome|gard_rare	Axenfeld syndrome|anomaly, Rieger's|iridogoniodysgenesis with somatic anomalies|Axenfeldt-Rieger syndrome|Hagedoom syndrome|Rieger syndrome|goniodysgenesis hypodontia|RGS - Rieger syndrome|Rieger's anomaly	http://purl.obolibrary.org/obo/MONDO_0019187	Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.	SNOMEDCT:47507006|UMLS:C3495488|UMLS:C0265341|MEDDRA:10059255|DOID:14686|NCIT:C131001|ORPHA:782|MESH:C535679|UMLS:CN776842
MONDO:0019189	inborn disorder of amino acid and other organic acid metabolism	biolink:Disease	mondo	UMLS:C0342666|ICD9:270.8|SCTID:237911005|Orphanet:79062	ordo_group_of_disorders	disorder of amino acid and organic acid metabolism|disorder of amino acid and other organic acid metabolism	http://purl.obolibrary.org/obo/MONDO_0019189		SNOMEDCT:237911005|ORPHA:79062|UMLS:C0342666
MONDO:0022740	Christian Johnson angenieta syndrome	biolink:Disease	mondo	GARD:0001316	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022740		
MONDO:0007108	anal canal carcinoma	biolink:Disease	mondo	Orphanet:424013|NCIT:C7489|SCTID:285310000|DOID:6126|OMIM:105580	ordo_group_of_disorders	anal canal cancer|anal canal carcinoma|obsolete carcinoma of the anal canal|carcinoma of anal canal|anal canal and perianal gland carcinoma|cloacogenic carcinoma|anal canal and perianal gland cancer|carcinoma of the anal canal	http://purl.obolibrary.org/obo/MONDO_0007108	A carcinoma that arises from epithelial cells of the anal canal	DOID:6126|SNOMEDCT:285310000|ORPHA:424013|NCIT:C7489|http://identifiers.org/omim/105580
HP:0100640	Laryngeal cyst	biolink:PhenotypicFeature	mondo	UMLS:C0339880|SNOMEDCT_US:195867000			http://purl.obolibrary.org/obo/HP_0100640	Presence of a cyst (sac-like structure) located in the larynx.	
MONDO:0007109	congenital dyserythropoietic anemia type 3	biolink:Disease	mondo	DOID:0111399|ICD9:285.8|GARD:0002002|OMIM:105600|SCTID:26409005|Orphanet:98870|ICD10:D64.4|UMLS:C0271934	ordo_disease	Erythroreticulosis, hereditary benign|CDA 3|dyserythropoietic Anemia, congenital, type 3|dyserythropoietic anemia, congenital type 3|CDA type III|anemia, congenital dyserythropoietic, type III; CDAN3|anemia with multinucleated erythroblasts|CDA type 3|anemia, congenital dyserythropoietic, type III|CDAN3|CDA III|congenital dyserythropoietic anemia type 3	http://purl.obolibrary.org/obo/MONDO_0007109	Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia.	SNOMEDCT:26409005|UMLS:C0271934|DOID:0111399|ORPHA:98870|http://identifiers.org/omim/105600
MONDO:0022742	occupational asthma	biolink:Disease	mondo	UMLS:C0264423|SCTID:57607007|MESH:D059366		industrial asthma|Asthma, Occupational|Occupational Asthma|Asthmas, Occupational|occupational asthma|Occupational asthma|Occupational Asthmas|Industrial asthma	http://purl.obolibrary.org/obo/MONDO_0022742	Asthma attacks caused, triggered, or exacerbated by OCCUPATIONAL EXPOSURE.	UMLS:C0264423|MESH:D059366|SNOMEDCT:57607007
MONDO:0009769	oculo-palato-cerebral syndrome	biolink:Disease	mondo	MESH:C564935|Orphanet:2714|UMLS:C1850338|ICD10:Q87.1|SCTID:722055008|OMIM:257910	ordo_malformation_syndrome	oculo-palato-cerebral dwarfism|OPC dwarfism|oculopalatocerebral syndrome|oculopalatocerebral dwarfism	http://purl.obolibrary.org/obo/MONDO_0009769	Oculopalatocerebral syndrome is characterised by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities.	UMLS:C1850338|ORPHA:2714|http://identifiers.org/omim/257910|SNOMEDCT:722055008|MESH:C564935
MONDO:0007106	anal sphincter dysplasia	biolink:Disease	mondo	MESH:C538254|UMLS:C1862936|OMIM:105563|GARD:0009822	gard_rare	anal sphincter dysplasia; ASDP|ASDP|anal sphincter dysplasia	http://purl.obolibrary.org/obo/MONDO_0007106		MESH:C538254|UMLS:C1862936|http://identifiers.org/omim/105563
MONDO:0007107	anal sphincter myopathy, internal	biolink:Disease	mondo	OMIM:105565|UMLS:C1862935|MESH:C566287		anal sphincter myopathy, internal|proctalgia fugax due to anal sphincter myopathy	http://purl.obolibrary.org/obo/MONDO_0007107		UMLS:C1862935|MESH:C566287|http://identifiers.org/omim/105565
MONDO:0009768	oculodentodigital dysplasia, autosomal recessive	biolink:Disease	mondo	MESH:C567605|OMIM:257850|UMLS:C2749477|GARD:0004045		autosomal recessive oculodentodigital dysplasia|oculodentoosseous dysplasia recessive|ODOD, autosomal recessive|oculodentodigital dysplasia, autosomal recessive|ODDD, autosomal recessive|ODOD recessive|oculodentoosseous dysplasia, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009768	Autosomal recessive form of oculodentodigital dysplasia.	MESH:C567605|UMLS:C2749477|http://identifiers.org/omim/257850
MONDO:0007104	amyotrophic lateral sclerosis-parkinsonism-dementia complex	biolink:Disease	mondo	ICD10:G12.2|Orphanet:90020|GARD:0009239|OMIM:105500	ordo_disease	amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome|Guam disease|amyotrophic lateral sclerosis, Parkinsonism/dementia complex of Guam|PDALS|amyotrophic lateral sclerosis-Parkinsonism/dementia Complex type 1|amyotrophic lateral sclerosis-Parkinsonism/dementia Complex of Guam|Lytico-Bodig disease|Lytigo-Bodig disease|ALS-pDC|amyotrophic lateral sclerosis-PARKINSONISM/dementia complex 1|Parkinsonism-dementia-ALS complex	http://purl.obolibrary.org/obo/MONDO_0007104		ORPHA:90020|http://identifiers.org/omim/105500
MONDO:0009767	oculocerebral hypopigmentation syndrome, Cross type	biolink:Disease	mondo	SCTID:17827007|ICD10:E70.3|GARD:0000105|OMIM:257800|Orphanet:2719|ICD9:759.89	gard_rare|ordo_malformation_syndrome	Kramer syndrome|oculocerebral syndrome with hypopigmentation|oculocerebral hypopigmentation syndrome|Cross syndrome|hypopigmentation oculocerebral syndrome Cross type	http://purl.obolibrary.org/obo/MONDO_0009767	Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia.	SNOMEDCT:17827007|UMLS:C0268496|ORPHA:2719|UMLS:C2936910|http://identifiers.org/omim/257800
MONDO:0010756	Von Willebrand disease, X-linked form	biolink:Disease	mondo	UMLS:C1839113|OMIM:314560|MESH:C564041		Von Willebrand disease, X-linked form|Von Willebrand disease, X-linked	http://purl.obolibrary.org/obo/MONDO_0010756		UMLS:C1839113|MESH:C564041|http://identifiers.org/omim/314560
RO:0002451	transmitted by	biolink:OntologyClass	mondo	RO:0002451			http://purl.obolibrary.org/obo/RO_0002451	A relationship that holds between a disease and organism	
MONDO:0010755	vesicoureteral reflux, X-linked	biolink:Disease	mondo	OMIM:314550|MESH:C564042|UMLS:C1839114		vesicoureteral reflux, X-linked; VURX|VURX|vesicoureteral reflux, X-linked	http://purl.obolibrary.org/obo/MONDO_0010755		UMLS:C1839114|MESH:C564042|http://identifiers.org/omim/314550
MONDO:0007105	frontotemporal dementia with motor neuron disease 1	biolink:Disease	mondo	UMLS:C1862937|DOID:0060213|OMIM:105550		frontotemporal dementia and/or amyotrophic lateral sclerosis|frontotemporal dementia with motor neuron disease caused by mutation in C9ORF72|frontotemporal dementia and/or amyotrophic lateral sclerosis type 1|frontotemporal dementia with motor neuron disease caused by mutation in C9orf72|FTDALS1|frontotemporal dementia and/or amyotrophic lateral sclerosis 1|ALSFTD|FTDMND|frontotemporal dementia and/or motor neuron disease|C9orf72 frontotemporal dementia with motor neuron disease|frontotemporal dementia and/or amyotrophic lateral sclerosis 1|C9ORF72 frontotemporal dementia with motor neuron disease|amyotrophic lateral sclerosis and/or frontotemporal dementia|frontotemporal dementia and/or amyotrophic lateral sclerosis 1; FTDALS1	http://purl.obolibrary.org/obo/MONDO_0007105	Any frontotemporal dementia with motor neuron disease in which the cause of the disease is a mutation in the C9orf72 gene.	UMLS:C1862937|DOID:0060213|http://identifiers.org/omim/105550
MONDO:0009766	oculocerebral hypopigmentation syndrome of Preus	biolink:Disease	mondo	UMLS:C2931646|Orphanet:2720|SCTID:716174001|OMIM:257790|GARD:0004034		oculocerebral hypopigmentation syndrome type Preus|oculocerebral hypopigmentation syndrome of Preus	http://purl.obolibrary.org/obo/MONDO_0009766		ORPHA:2720|http://identifiers.org/omim/257790|SNOMEDCT:716174001|UMLS:C2931646
MONDO:0007102	amyotrophic dystonic paraplegia	biolink:Disease	mondo	MESH:C566292|UMLS:C1862956|OMIM:105300		amyotrophic dystonic paraplegia	http://purl.obolibrary.org/obo/MONDO_0007102		MESH:C566292|UMLS:C1862956|http://identifiers.org/omim/105300
MONDO:0010758	intellectual disability-developmental delay-contractures syndrome	biolink:Disease	mondo	SCTID:722456001|OMIM:314580|ICD10:Q87.8|GARD:0007890|ICD10:G71.8|Orphanet:3454|OMIM:309605|MESH:C536703|SCTID:719012009|DOID:0060815|Orphanet:85283|GARD:0009984|MESH:C537472	ordo_malformation_syndrome	Miles-Carpenter syndrome|WRWFXLR|mental retardation, X-linked, with congenital contractures and low fingertip arches|Wieacker-Wolff syndrome|foot contractures-muscle atrophy-oculomotor apraxia syndrome|WRWF|X-linked intellectual disability, Miles-Carpenter type|MCS|Wieacker-Wolff syndrome; WRWF|contractures of feet, muscle atrophy, and oculomotor apraxia|MRXS4|mental retardation, X-linked, with congenital contractures and Low fingertip arches|Wieacker-Wolff syndrome, X-linked|Wieacker Wolff syndrome|Miles-CARPENTER X-linked mental retardation syndrome|Miles-CARPENTER X-linked mental retardation syndrome; MCS|Wieacker syndrome|apraxia, oculomotor, with congenital contractures and muscle atrophy|mental retardation, X-linked, syndromic 4	http://purl.obolibrary.org/obo/MONDO_0010758	A severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis) and intellectual disability.	MESH:C537472|ORPHA:85283|UMLS:C1839735|MESH:C536703|DOID:0060815|http://identifiers.org/omim/314580|http://identifiers.org/omim/309605|UMLS:C0796200|SNOMEDCT:722456001|SNOMEDCT:719012009|ORPHA:3454
MONDO:0009765	ocular myopathy with curare sensitivity	biolink:Disease	mondo	OMIM:257600|UMLS:C1850341|MESH:C564937		ocular myopathy with curare sensitivity	http://purl.obolibrary.org/obo/MONDO_0009765		UMLS:C1850341|http://identifiers.org/omim/257600|MESH:C564937
CHEBI:33913	corrinoid	biolink:ChemicalSubstance	mondo			corrinoids|corrinoid|Corrinoid|Corrinoid protein|corrinoide|Corrinoid protein Co+|corrinoides|Korrinoid	http://purl.obolibrary.org/obo/CHEBI_33913	A derivative of the corrin nucleus, which contains four reduced or partly reduced pyrrole rings joined in a macrocycle by three =C- groups and one direct carbon-carbon bond linking alpha positions.	
MONDO:0010757	widow's peak syndrome	biolink:Disease	mondo	UMLS:C1839112|OMIM:314570|MESH:C564040		widow's peak syndrome|widow's peak, ptosis, and skeletal anomalies	http://purl.obolibrary.org/obo/MONDO_0010757		UMLS:C1839112|MESH:C564040|http://identifiers.org/omim/314570
MONDO:0007103	amyotrophic lateral sclerosis type 1	biolink:Disease	mondo	ICD10:G12.2|DOID:0060193|OMIM:105400|MESH:C531617		amyotrophic lateral sclerosis 1|FALS|amyotrophic lateral sclerosis 1; ALS1|amyotrophic lateral sclerosis, autosomal dominant|amyotrophic lateral sclerosis 1, autosomal dominant amyotrophic lateral sclerosis 1, autosomal recessive, included|amyotrophic lateral sclerosis 1, autosomal recessive|amyotrophic lateral sclerosis 1, familial|amyotrophic lateral sclerosis, familial|amyotrophic lateral sclerosis, sporadic|amyotrophic lateral sclerosis 1, autosomal dominant|amyotrophic lateral sclerosis, sporadic, included|ALS1|amyotrophic lateral sclerosis type 1	http://purl.obolibrary.org/obo/MONDO_0007103		MESH:C531617|DOID:0060193|http://identifiers.org/omim/105400
MONDO:0009764	ocular motor apraxia, Cogan type	biolink:Disease	mondo	ICD10:H51.8|GARD:0000016|MESH:C537423|Orphanet:1125|SCTID:405809000|OMIM:257550	gard_rare|ordo_disease	congenital oculomotor apraxia|Cogan's syndrome type 2|oculomotor apraxia Cogan type|saccade initiation failure, congenital|oculomotor apraxia, Cogan type|Cogan syndrome type 2|COMA|ocular motor apraxia|saccade initiation failure congenital	http://purl.obolibrary.org/obo/MONDO_0009764	Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type.	ORPHA:1125|UMLS:C0543874|http://identifiers.org/omim/257550|MESH:C537423|SNOMEDCT:405809000
MONDO:0007100	familial amyloid neuropathy	biolink:Disease	mondo	SCTID:42295001|DOID:0050638|UMLS:C2751492|ICD10:E85.1+|GARD:0000656|EFO:0004129|NCIT:C84554|Orphanet:85447|OMIM:105210|DOID:0050761|UMLS:C0206245|ICD10:G63.3*|ICD9:277.39	ordo_disease	familial amyloid polyneuropathy type I (Portuguese-Swedish-Japanese type)|paramyloidosis|familial amyloid polyneuropathy type I|amyloidosis, hereditary, transthyretin-related|amyloid Neuropathies, familial|Corino de Andrade's disease|amyloid cardiomyopathy, transthyretin-related|transthyretin-related hereditary amyloidosis|familial amyloid polyneuropathy|TTR amyloidosis|amyloidosis transthyretin related|transthyretin amyloid neuropathy|amyloidosis, leptomeningeal, transthyretin-related|ATTRV30M-related amyloidosis|transthyretin amyloid polyneuropathy|transthyretin amyloidosis|hereditary amyloidosis, transthyretin-related|ATTRV30M amyloidosis|familial amyloid polyneuropathy, Portuguese-Swedish-Japanese type|familial transthyretin amyloidosis|amyloid polyneuropathy, familial|TTR amyloid neuropathy	http://purl.obolibrary.org/obo/MONDO_0007100	Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.	UMLS:C0206245|ORPHA:85447|DOID:0050638|SNOMEDCT:42295001|DOID:0050761|http://identifiers.org/omim/105210|UMLS:C2751492|NCIT:C84554
MONDO:0009763	obesity-hypoventilation syndrome	biolink:Disease	mondo	SCTID:190966007|OMIM:257500|MESH:D010845|ICD9:786.09|UMLS:C0031880		obesity-hypoventilation syndrome|Pickwickian syndrome	http://purl.obolibrary.org/obo/MONDO_0009763	Hypoventilation syndrome in very obese persons with excessive adipose tissue around the abdomen and diaphragm is characterized by diminished to absent ventilatory chemoresponsiveness; chronic hypoxia; hypercapnia; polycythemia; and long periods of sleep during day and night (hypersomnolence). It is a condition often related to obstructive sleep apnea but can occur separately.	UMLS:C0031880|http://identifiers.org/omim/257500|SNOMEDCT:190966007|MESH:D010845
MONDO:0007101	familial primary localized cutaneous amyloidosis	biolink:Disease	mondo	UMLS:CN204529|ICD10:L99.0*|MESH:C562643|Orphanet:353220|GARD:0000132|ICD10:E85.4+	ordo_disease|gard_rare	lichen amyloidosis familial|amyloidosis IX|PLCA|amyloidosis, primary localized cutaneous, 1|amyloidosis, primary localized cutaneous, type 1|amyloidosis 9|FPLCA|hereditary primary cutaneous amyloidosis|amyloidosis familial cutaneous lichen|primary localized cutaneous amyloidosis|PLCA1	http://purl.obolibrary.org/obo/MONDO_0007101	Primary cutaneous amyloidosis is a form of amyloidosis, a group of conditions in which an abnormal protein (called amyloid) builds up in various organs and tissues throughout the body. In primary cutaneous amyloidosis, specifically, this protein accumulates in the skin. There are three main forms of primary cutaneous amyloidosis: Lichen amyloidosis - multiple itchy, raised spots which are scaly and red/brown in color. This rash generally affects the shins, thighs, feet and forearms. Macular amyloidosis - mild to severely itchy, flat, dusky-brown or greyish colored spots that may come together to form patches of darkened skin. This rash generally appears on the upper back between the shoulder blades, the chest and less commonly, the arms. Nodular amyloidosis - asymptomatic firm bumps that may be pinkish-brown to red in color. This rash may occur on the trunk, limbs, face, and/or genitals.The exact underlying cause of primary cutaneous amyloidosis is poorly understood. It is sometimes associated with other conditions such as atopic dermatitis, sarcoidosis, and psoriasis. Although most cases occur sporadically in people with no family history of the condition, there are rare familial forms caused by changes (mutations) in the OSMR or IL31RA gene. Treatment is based on the signs and symptoms present in each person and may include surgery to remove amyloid deposits and/or certain medications to relieve itching.	ORPHA:353220|MESH:C562643|UMLS:CN204529
MONDO:0009762	nystagmus, congenital, autosomal recessive	biolink:Disease	mondo	OMIM:257400|GARD:0009609|MESH:C564938|UMLS:C3151571		nystagmus, congenital, autosomal recessive|Nystagmus, congenital motor, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009762		http://identifiers.org/omim/257400|UMLS:C3151571|MESH:C564938
MONDO:0010759	Wildervanck syndrome	biolink:Disease	mondo	GARD:0005569|UMLS:C0265239|ICD10:Q87.8|ICD9:759.89|SCTID:79665007|OMIM:314600|Orphanet:3456|MedDRA:10069402	gard_rare|ordo_malformation_syndrome	cervico-oculo-acoustic syndrome|Cervicooculoacoustic syndrome|Wildervanck syndrome|cervico-oculo-acoustic dysplasia|COA syndrome	http://purl.obolibrary.org/obo/MONDO_0010759	Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly), bilateral abducens palsy with retracted eyes (Duane syndrome) and congenital perceptive deafness.	UMLS:C0265239|MESH:C536706|SNOMEDCT:79665007|MEDDRA:10069402|http://identifiers.org/omim/314600|ORPHA:3456
MONDO:0009761	cystic hygroma	biolink:Disease	mondo	ICD10:D18.1|Orphanet:79486|NCIT:C3724|MedDRA:10058949|DOID:3081|MESH:D018191|ICDO:9173/0|OMIM:257350|SCTID:399882002|GARD:0006234|EFO:1000888	gard_rare|ordo_clinical_subtype	macrocystic lymphatic malformation|cystic hygroma, fetal|nuchal bleb, familial|cystic hygroma|hygroma|cystic lymphangioma	http://purl.obolibrary.org/obo/MONDO_0009761	A benign lymphatic neoplasm usually arising from the neck and characterized by cystic dilation of the lymphatic vessels.	NCIT:C3724|SNOMEDCT:399882002|http://identifiers.org/omim/257350|DOID:3081|ORPHA:79486|MESH:D018191
MONDO:0009760	Norman-Roberts syndrome	biolink:Disease	mondo	Orphanet:89844|OMIM:257320|DOID:0060902|ICD10:Q04.3|GARD:0003277|SCTID:717977003|UMLS:C0796089	ordo_clinical_subtype	LIS2|Norman-Roberts syndrome|Microlissencephaly type A|lissencephaly type 2|lissencephaly syndrome Norman-Roberts type|lissencephaly syndrome, Norman-Roberts type|lissencephaly 2; LIS2|lissencephaly 2|Norman Roberts lissencephaly syndrome	http://purl.obolibrary.org/obo/MONDO_0009760	Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.	http://identifiers.org/omim/257320|MESH:C537848|SNOMEDCT:717977003|DOID:0060902|ORPHA:89844|UMLS:C0796089
RO:0002450	activity directly positively regulates activity of	biolink:OntologyClass	mondo			molecularly increases activity of	http://purl.obolibrary.org/obo/RO_0002450	Holds between molecular entities A and B where A can physically interact with B and in doing so positively regulates a process that B is capable of.  For example, A and B may be gene products and binding of B by A positively regulates the kinase activity of B.	
RO:0002448	directly regulates activity of	biolink:OntologyClass	mondo			molecularly controls	http://purl.obolibrary.org/obo/RO_0002448	Holds between molecular entities A and B where A can physically interact with B and in doing so regulates a process that B is capable of.  For example, A and B may be gene products and binding of B by A regulates the kinase activity of B.	
RO:0002449	activity directly negatively regulates activity of	biolink:OntologyClass	mondo			molecularly decreases activity of	http://purl.obolibrary.org/obo/RO_0002449	Holds between molecular entities A and B where A can physically interact with B and in doing so negatively regulates a process that B is capable of.  For example, A and B may be gene products and binding of B by A negatively regulates the kinase activity of B.	
MONDO:0010761	retinitis pigmentosa Y-linked	biolink:Disease	mondo	UMLS:C1839079|OMIM:400004|ICD10:H35.5|DOID:0110418|MESH:C564035		Y-linked retinitis pigmentosa|RPY|retinitis pigmentosa, Y-linked; RPY|retinitis pigmentosa, Y-linked	http://purl.obolibrary.org/obo/MONDO_0010761	Y-linked form of retinitis pigmentosa.	DOID:0110418|UMLS:C1839079|http://identifiers.org/omim/400004|MESH:C564035
MONDO:0010760	XH antigen	biolink:Disease	mondo	OMIM:314800		XH antigen	http://purl.obolibrary.org/obo/MONDO_0010760		http://identifiers.org/omim/314800
HGNC:29242	SH3PXD2B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29242		
MONDO:0010763	spermatogenic failure, Y-linked, 1	biolink:Disease	mondo	OMIM:400042|DOID:0070186		incomplete Sertoli cell-only syndrome|Sertoli cell-only syndrome, Y-linked|spermatogenic failure, Y-linked, type 1|Sertoli cell-only syndrome, type 2|Sertoli cell-only syndrome, type 1|spermatogenic failure, Y-linked, 1|hypospermatogenesis|SPGFY1|spermatogenic failure, Y-linked, 1; SPGFY1	http://purl.obolibrary.org/obo/MONDO_0010763		DOID:0070186|http://identifiers.org/omim/400042
MONDO:0010762	lymphoma, Hodgkin, Y-linked pseudoautosomal	biolink:Disease	mondo	MESH:C564034|OMIM:400021|UMLS:C1839076		Hodgkin disease, Y-linked Pseudoautosomal|lymphoma, Hodgkin, Y-linked pseudoautosomal	http://purl.obolibrary.org/obo/MONDO_0010762		http://identifiers.org/omim/400021|UMLS:C1839076|MESH:C564034
GO:0042401	cellular biogenic amine biosynthetic process	biolink:OntologyClass	mondo			biogenic amine synthesis|biogenic amine formation|biogenic amine biosynthesis|biogenic amine anabolism	http://purl.obolibrary.org/obo/GO_0042401	The chemical reactions and pathways occurring at the level of individual cells resulting in the formation of any of a group of naturally occurring, biologically active amines, such as norepinephrine, histamine, and serotonin, many of which act as neurotransmitters.	
MONDO:0010765	46,XY complete gonadal dysgenesis	biolink:Disease	mondo	OMIMPS:400044|SCTID:95218005|UMLS:C2936694|UMLS:C0018054|DOID:14448|MESH:D006061|ICD10:Q99.1|NCIT:C120198|GARD:0005068|Orphanet:242	prototype_pattern|ordo_malformation_syndrome	46,XY CGD|Swyer syndrome|46,XY SEX reversal|46,XY pure gonadal dysgenesis|sex-reversing locus on X, formerly|46, XY CGD|pure gonadal dysgenesis 46,XY|sex-reversing locus on X|46, XY pure gonadal dysgenesis|testis-determining Factor, X-chromosomal|46, XY complete gonadal dysgenesis|gonadal dysgenesis, XY female type|46,XY gonadal dysgenesis|46 XY gonadal dysgenesis	http://purl.obolibrary.org/obo/MONDO_0010765	46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.	DOID:14448|MESH:D006061|UMLS:C0018054|NCIT:C120198|UMLS:C2936694|ORPHA:242|SNOMEDCT:95218005
MONDO:0010764	deafness, Y-linked 1	biolink:Disease	mondo	OMIM:400043|UMLS:C3888076|DOID:0111759		deafness, Y-linked 1; DFNY1|DFNY1|deafness, Y-linked 1	http://purl.obolibrary.org/obo/MONDO_0010764		DOID:0111759|UMLS:C3888076|http://identifiers.org/omim/400043
GO:0042403	thyroid hormone metabolic process	biolink:OntologyClass	mondo			thyroid hormone metabolism	http://purl.obolibrary.org/obo/GO_0042403	The chemical reactions and pathways involving any of the compounds secreted by the thyroid gland, largely thyroxine and triiodothyronine.	
RO:0002447	phosphorylates	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002447		
MONDO:0022734	chorioretinopathy dominant form microcephaly	biolink:Disease	mondo	GARD:0001308	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022734		
MONDO:0022735	choroid plexus cyst	biolink:Disease	mondo	NCIT:C4351|GARD:0001309|SCTID:230790004	gard_rare	choroid plexus cyst|CPC - choroid plexus cyst	http://purl.obolibrary.org/obo/MONDO_0022735		SNOMEDCT:230790004|NCIT:C4351
MONDO:0022736	occupational lung disease	biolink:Disease	mondo	GARD:0012752|ICD9:508.9|SCTID:86157004|UMLS:C0264421		Occupational inhalation disease|Occupational respiratory disease|Occupational lung disease|Occupational pulmonary disease|Occupational lung disorder	http://purl.obolibrary.org/obo/MONDO_0022736		UMLS:C0264421|SNOMEDCT:86157004
MONDO:0022737	choroideremia hypopituitarism	biolink:Disease	mondo	SCTID:715417002|GARD:0001312|UMLS:C4275146	gard_rare	choroideraemia co-occurrent with hypopituitarism|choroideremia hypopituitarism|choroideraemia hypopituitarism|choroideremia co-occurrent with hypopituitarism	http://purl.obolibrary.org/obo/MONDO_0022737	This is an X-linked recessive retinal degenerative disease that leads to degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye. Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain.	SNOMEDCT:715417002|UMLS:C4275146
MONDO:0022739	Christian demyer franken syndrome	biolink:Disease	mondo	GARD:0001315	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022739		
HGNC:17264	POLR1A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17264		
HGNC:2277	COX6A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2277		
HGNC:30242	TUSC3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30242		
HGNC:17272	CENPJ	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17272		
MONDO:0007119	isolated aniridia	biolink:Disease	mondo	Orphanet:250923|ICD10:Q13.1|OMIMPS:106210	ordo_morphological_anomaly|prototype_pattern	nonsyndromic aniridia|aniridia without systemic involvement	http://purl.obolibrary.org/obo/MONDO_0007119	Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.	ORPHA:250923
MONDO:0007117	obsolete angioedema, hereditary, type 1/2	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0007117		
MONDO:0022732	chorea minor	biolink:Disease	mondo	GARD:0006057	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022732		
MONDO:0009779	autosomal recessive omodysplasia	biolink:Disease	mondo	ICD10:Q78.8|UMLS:C1850318|GARD:0004076|SCTID:725166005|Orphanet:93329|OMIM:258315	ordo_clinical_subtype	omodysplasia, generalized form|omodysplasia type 1|omodysplasia autosomal recessive|omodysplasia, autosomal recessive|micromelic dysplasia, congenital, with dislocation of radius|omodysplasia 1|micromelic dysplasia congenita with dislocation of radius|omodysplasia generalized form|OMOD1|omodysplasia 1; OMOD1|micromelic dysplasia-dislocation of radius syndrome	http://purl.obolibrary.org/obo/MONDO_0009779	Autosomal recessive form of omodysplasia.	UMLS:C1850318|http://identifiers.org/omim/258315|SNOMEDCT:725166005|ORPHA:93329
MONDO:0022733	choreoacanthocytosis amyotrophic	biolink:Disease	mondo	GARD:0001306	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022733		
MONDO:0007118	isolated anhidrosis with normal sweat glands	biolink:Disease	mondo	DOID:0060603|UMLS:C1862871|Orphanet:468666|OMIM:106190	ordo_disease	anhidrosis caused by mutation in ITPR2|anhidrosis, isolated, with normal sweat glands|ANHD|ITPR2 anhidrosis|Dann-Epstein-Sohar syndrome|isolated generalized anhidrosis with normal sweat glands|anhidrosis, isolated, with normal sweat glands; ANHD	http://purl.obolibrary.org/obo/MONDO_0007118	Any anhidrosis in which the cause of the disease is a mutation in the ITPR2 gene.	ORPHA:468666|UMLS:C1862871|http://identifiers.org/omim/106190|DOID:0060603
MONDO:0010745	beta-thalassemia-X-linked thrombocytopenia syndrome	biolink:Disease	mondo	SCTID:718196002|UMLS:C1839161|DOID:0111767|OMIM:314050|Orphanet:231393|MESH:C564050|NCIT:C134941|ICD10:D69.4	ordo_disease	thrombocytopenia with BETA-thalassemia, X-linked|thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced globin synthesis|thrombocytopenia with BETA-thalassemia, X-linked; XLTT|X-linked thrombocytopenia with Beta-thalassemia|XLTT	http://purl.obolibrary.org/obo/MONDO_0010745	Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.	ORPHA:231393|UMLS:C1839161|SNOMEDCT:718196002|NCIT:C134941|MESH:C564050|DOID:0111767|http://identifiers.org/omim/314050
MONDO:0009778	olivopontocerebellar atrophy II, autosomal recessive	biolink:Disease	mondo	MESH:C564930|OMIM:258300|UMLS:C1850319		OPCA II, Fickler-Winkler type|olivopontocerebellar atrophy II, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009778		UMLS:C1850319|http://identifiers.org/omim/258300|MESH:C564930
MONDO:0007115	angioma serpiginosum, autosomal dominant	biolink:Disease	mondo	OMIM:106050|UMLS:C1970130|GARD:0010189|MESH:C536365	gard_rare	autosomal dominant angioma serpiginosum|angioma serpiginosum, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0007115		UMLS:C1970130|http://identifiers.org/omim/106050|MESH:C536365
MONDO:0009777	Oliver syndrome	biolink:Disease	mondo	OMIM:258200|ICD10:Q87.2|MESH:C564931|SCTID:721017000|UMLS:C1850320|Orphanet:2920|GARD:0004069	gard_rare|ordo_malformation_syndrome	postaxial polydactyly and intellectual disability|postaxial polydactyly-intellectual disability syndrome|postaxial polydactyly and mental retardation|Oliver syndrome	http://purl.obolibrary.org/obo/MONDO_0009777	Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy.	UMLS:C1850320|http://identifiers.org/omim/258200|SNOMEDCT:721017000|ORPHA:2920|MESH:C564931
MONDO:0007116	hereditary neurocutaneous angioma	biolink:Disease	mondo	ICD10:D18.0|Orphanet:1062|GARD:0000676|OMIM:106070	ordo_disease	hereditary neurocutaneous malformation|angioma, hereditary neurocutaneous|spinal arterial Venous malformations with cutaneous hemangiomas|angioma hereditary neurocutaneous|hereditary neurocutaneous angioma|hemangiomatosis, disseminated	http://purl.obolibrary.org/obo/MONDO_0007116	Hereditary neurocutaneous angioma is characterised by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral haemorrhage, and focal neurological deficit. Transmission is autosomal dominant.	ORPHA:1062|http://identifiers.org/omim/106070|MESH:C536364|UMLS:C1275084
MONDO:0010744	thrombocytopenia with elevated serum IgA and renal disease	biolink:Disease	mondo	GARD:0010576|OMIM:314000|UMLS:C1839162|MESH:C564051		thrombocytopenia with elevated serum IgA and renal disease	http://purl.obolibrary.org/obo/MONDO_0010744		UMLS:C1839162|MESH:C564051|http://identifiers.org/omim/314000
MONDO:0009776	spermatogenic failure 1	biolink:Disease	mondo	Orphanet:217034|SCTID:236803007|DOID:0070188|UMLS:C0403810|MESH:C562902|OMIM:258150		spermatogenic failure 1|spermatogenic failure 1; SPGF1|Oligosynaptic infertility|Oligochiasmatic infertility|SPGF1	http://purl.obolibrary.org/obo/MONDO_0009776		SNOMEDCT:236803007|http://identifiers.org/omim/258150|UMLS:C0403810|ORPHA:217034|DOID:0070188|MESH:C562902
MONDO:0007113	Angelman syndrome	biolink:Disease	mondo	DOID:1932|SCTID:76880004|UMLS:C0162635|MedDRA:10049004|Orphanet:72|ICD10:Q93.5|OMIM:105830|MESH:D017204|ICD10:Q93.51|NCIT:C75462|MESH:C531619|GARD:0005810|ICD9:759.89	ordo_malformation_syndrome	Angelman syndrome; AS|happy puppet syndrome|happy puppet syndrome (formerly)|happy puppet syndrome, formerly|Angelman syndrome|puppetlike syndrome|AS|Angelman syndrome chromosome region	http://purl.obolibrary.org/obo/MONDO_0007113	Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.	MEDDRA:10049004|MESH:C531619|SNOMEDCT:76880004|UMLS:C0162635|NCIT:C75462|MESH:D017204|http://identifiers.org/omim/105830|ORPHA:72|DOID:1932
MONDO:0010747	X-linked dystonia-parkinsonism	biolink:Disease	mondo	SCTID:698279003|DOID:0090057|MESH:C564048|OMIM:314250|NCIT:C126330|GARD:0010533|UMLS:C1839130|ICD10:G24.1|Orphanet:53351	ordo_disease	Lubag|X-linked dystonia-parkinsonism/Lubag|dystonia 3, torsion, X-linked|DYT3|dystonia 3, torsion, X-linked; DYT3|dystonia-Parkinsonism, X-linked|X-linked dystonia Parkinsonism|torsion dystonia-Parkinsonism, Filipino type|DYT-TAF1|X-linked torsion dystonia-Parkinsonism syndrome|XDP|X-linked dystonia-Parkinsonism syndrome|Lubag syndrome	http://purl.obolibrary.org/obo/MONDO_0010747	X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course.	UMLS:C1839130|SNOMEDCT:698279003|MESH:C564048|DOID:0090057|NCIT:C126330|ORPHA:53351|http://identifiers.org/omim/314250
MONDO:0009775	Oguchi disease-1	biolink:Disease	mondo	OMIM:258100|DOID:0110712		Oguchi disease caused by mutation in SAG|CSNBO1|night blindness, congenital stationary, Oguchi type 1|Oguchi disease 1|Oguchi disease type 1|SAG Oguchi disease|congenital stationary night blindness Oguchi type 1	http://purl.obolibrary.org/obo/MONDO_0009775	Any Oguchi disease in which the cause of the disease is a mutation in the SAG gene.	http://identifiers.org/omim/258100|DOID:0110712
MONDO:0007114	angel-shaped phalango-epiphyseal dysplasia	biolink:Disease	mondo	MESH:C536361|ICD10:Q78.8|Orphanet:63442|OMIM:105835|GARD:0000671|MedDRA:10066017|SCTID:720984008	ordo_malformation_syndrome	Angel shaped phalangoepiphyseal dysplasia|ASPED|ANGEL-SHAPED PHALANGOEPIPHYSEAL dysplasia; ASPED|ANGEL-SHAPED PHALANGOEPIPHYSEAL dysplasia	http://purl.obolibrary.org/obo/MONDO_0007114	Angel-shaped phalango-epiphyseal dysplasia (ASPED) is a form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.	MEDDRA:10066017|ORPHA:63442|SNOMEDCT:720984008|MESH:C536361|http://identifiers.org/omim/105835
MONDO:0010746	thumbs, congenital Clasped	biolink:Disease	mondo	UMLS:CN074234|GARD:0010277|OMIM:314100		adducted thumbs syndrome|Clasped thumbs, congenital|thumbs, congenital Clasped	http://purl.obolibrary.org/obo/MONDO_0010746		UMLS:CN074234|http://identifiers.org/omim/314100
UBERON:2002098	hemal spine series	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_2002098		
MONDO:0009774	cloacal exstrophy (disease)	biolink:Disease	mondo	MESH:C537748|NCIT:C99142|SCTID:20815007|Orphanet:93929|DOID:0080175|OMIM:258040|HP:0010475|GARD:0004080|ICD9:759.89|MedDRA:10067424|ICD10:Q64.1|UMLS:C1850321	ordo_clinical_subtype	omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex|omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects|omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome|omphalocele-exstrophy-imperforate anus-spinal defects|OEIS syndrome|cloacal exstrophy|omphalocele - cloacal exstrophy - imperforate anus - spinal defect|OEIS complex|cloacal exstrophy sequence	http://purl.obolibrary.org/obo/MONDO_0009774	Cloacal exstrophy (EC) is a major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations.	DOID:0080175|MESH:C537748|NCIT:C99142|SNOMEDCT:20815007|MEDDRA:10067424|http://identifiers.org/omim/258040|UMLS:C1850321|ORPHA:93929
MONDO:0010749	trigonocephaly-short stature-developmental delay syndrome	biolink:Disease	mondo	ICD10:Q87.0|OMIM:314320|GARD:0000243|MESH:C536620|Orphanet:3369|SCTID:733066002	ordo_malformation_syndrome	Say Meyer syndrome|Say-Meyer syndrome|trigonocephaly with short stature and developmental delay|trigonocephaly, short stature, and retarded psychomotor development|trigonocephaly, short stature and developmental delay	http://purl.obolibrary.org/obo/MONDO_0010749	Trigonocephaly-short stature-developmental delay syndrome is characterised by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance can not be ruled out.	ORPHA:3369|SNOMEDCT:733066002|MESH:C536620|http://identifiers.org/omim/314320
MONDO:0007111	aneurysm, intracranial berry type 1	biolink:Disease	mondo	OMIM:105800|MESH:C566284|UMLS:C1862932		aneurysmal subarachnoid hemorrhage, familial|aneurysm, intracranial berry, 1; ANIB1|ANIB1|aneurysm, intracranial berry, 1	http://purl.obolibrary.org/obo/MONDO_0007111		UMLS:C1862932|MESH:C566284|http://identifiers.org/omim/105800
MONDO:0010748	torticollis-keloids-cryptorchidism-renal dysplasia syndrome	biolink:Disease	mondo	OMIM:314300|Orphanet:3341|UMLS:C1839129|ICD10:Q87.8|GARD:0005230|MESH:C536970	ordo_malformation_syndrome	torticollis, keloids, cryptorchidism, and renal dysplasia|torticollis, keloids, cryptorchidism, and renal dysplasia; TKCR|Tkc|Tkcr syndrome|torticollis keloids cryptorchidism renal dysplasia|Goeminne syndrome|TKCR	http://purl.obolibrary.org/obo/MONDO_0010748	Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies.	UMLS:C1839129|MESH:C536970|http://identifiers.org/omim/314300|ORPHA:3341
MONDO:0007112	interventricular septum aneurysm	biolink:Disease	mondo	ICD10:Q21.0|Orphanet:99092|UMLS:C1387721|OMIM:105805|MESH:C563239	ordo_morphological_anomaly	aneurysm of interventricular septum	http://purl.obolibrary.org/obo/MONDO_0007112	Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated.	ORPHA:99092|UMLS:C1387721|MESH:C563239|http://identifiers.org/omim/105805
MONDO:0009773	odonto-onycho-dermal dysplasia	biolink:Disease	mondo	GARD:0004054|MESH:C537742|ICD10:Q82.4|Orphanet:2721|SCTID:403762003|UMLS:C0796093|OMIM:257980	ordo_disease	OODD|odontoonychodermal dysplasia|odontoonychodermal dysplasia; OODD	http://purl.obolibrary.org/obo/MONDO_0009773	Odonto-onycho-dermal dysplasia is a form of ectodermal dysplasia characterised by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair.	ORPHA:2721|MESH:C537742|http://identifiers.org/omim/257980|UMLS:C1275074|SNOMEDCT:403762003|UMLS:C0796093
MONDO:0009772	oculorenocerebellar syndrome	biolink:Disease	mondo	OMIM:257970|GARD:0004050|Orphanet:2715|UMLS:C1850331|MESH:C537739	ordo_malformation_syndrome|gard_rare	absence of the cerebellar granular layer, intellectual disability, tapetoretinal degeneration and progressive glomerulopathy|absence of the cerebellar granular layer, mental retardation, tapetoretinal degeneration and progressive glomerulopathy|oculorenocerebellar syndrome|ORC syndrome	http://purl.obolibrary.org/obo/MONDO_0009772		ORPHA:2715|MESH:C537739|http://identifiers.org/omim/257970|UMLS:C1850331
HGNC:29256	SOBP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29256		
MONDO:0007110	Diamond-Blackfan anemia 1	biolink:Disease	mondo	OMIM:105650|UMLS:C2676137		DBA|DBA1|Blackfan-Diamond syndrome|Diamond-Blackfan anemia 1; DBA1|aregenerative Anemia, chronic congenital|Diamond-Blackfan Anemia type 1|Red cell aplasia, Pure, hereditary|Diamond-Blackfan anemia 1|Aase syndrome|anemia, congenital hypoplastic, of Blackfan and Diamond|RPS19 Diamond-Blackfan anemia|erythrogenesis imperfecta|anemia, congenital erythroid hypoplastic|Aase-Smith syndrome 2|Diamond-Blackfan anemia caused by mutation in RPS19	http://purl.obolibrary.org/obo/MONDO_0007110	Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS19 gene.	UMLS:C2676137|http://identifiers.org/omim/105650
MONDO:0009771	oculotrichodysplasia	biolink:Disease	mondo	Orphanet:2718|SCTID:722062004|UMLS:C1850332|MESH:C564934|OMIM:257960	ordo_malformation_syndrome	oculotrichodysplasia; OTD|Cecato de Lima-Pinheiro syndrome|OTD|oculotrichodysplasia	http://purl.obolibrary.org/obo/MONDO_0009771	Oculotrichodysplasia is characterised by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive.	ORPHA:2718|SNOMEDCT:722062004|http://identifiers.org/omim/257960|MESH:C564934|UMLS:C1850332
MONDO:0009770	3MC syndrome 1	biolink:Disease	mondo	UMLS:C0796059|DOID:0060575|OMIM:257920|Orphanet:2506|EFO:1001978		3MC syndrome caused by mutation in MASP1|3Mc syndrome type 1|Michels syndrome, formerly|3MC syndrome 1|craniosynostosis with 51D anomalies|3MC syndrome type 1|Michels syndrome|3MC syndrome 1; 3MC1|oculopalatoskeletal syndrome|3MC1|MASP1 3MC syndrome	http://purl.obolibrary.org/obo/MONDO_0009770	Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene.	ORPHA:2506|http://identifiers.org/omim/257920|DOID:0060575|UMLS:C0796059
HGNC:29250	WDR35	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29250		
MONDO:0010750	ulnar hypoplasia-split foot syndrome	biolink:Disease	mondo	OMIM:314360|Orphanet:1122|ICD10:Q73.8|MESH:C536936|GARD:0005400|UMLS:C1839123	ordo_malformation_syndrome	complete absence of the ulna and of fingers 2 to 5, together with lobster-claw deformity of the feet|Van De Berghe Dequeker syndrome|ulnar hypoplasia with lobster-claw deformity of feet|Van den Berghe-Dequecker syndrome|severe ulnar aplasia and lobster claw feet|ulnar hypoplasia-lobster-claw deformity of feet syndrome|ulnar hypoplasia lobster claw deformity of feet|familial ulnar aplasia and lobster claw syndrome	http://purl.obolibrary.org/obo/MONDO_0010750	Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.	MESH:C536936|http://identifiers.org/omim/314360|ORPHA:1122|UMLS:C1839123
HGNC:29253	CC2D2A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29253		
MONDO:0010752	VACTERL association, X-linked, with or without hydrocephalus	biolink:Disease	mondo	DOID:0111766|UMLS:C2931228|GARD:0008498|OMIM:314390		VACTERL association, X-linked, with or without hydrocephalus|VACTERL association, X-linked, with or without hydrocephalus; VACTERLX|X-linked VACTERL-H syndrome|VACTERL association with hydrocephaly, X-linked|VACTERLX|VACTERL-H, X-linked	http://purl.obolibrary.org/obo/MONDO_0010752		DOID:0111766|UMLS:C2931228|http://identifiers.org/omim/314390
RO:0002433	contributes to morphology of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002433	p contributes to morphology of w if and only if a change in the morphology of p entails a change in the morphology of w. Examples: every skull contributes to morphology of the head which it is a part of. Counter-example: nuclei do not generally contribute to the morphology of the cell they are part of, as they are buffered by cytoplasm.	
RO:0002434	interacts with	biolink:OntologyClass	mondo			in pairwise interaction with	http://purl.obolibrary.org/obo/RO_0002434	A relationship that holds between two entities in which the processes executed by the two entities are causally connected.	
HGNC:2280	COX6B1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2280		
MONDO:0010751	unique green phenomenon	biolink:Disease	mondo	UMLS:C1839116|OMIM:314380		unique green phenomenon	http://purl.obolibrary.org/obo/MONDO_0010751		http://identifiers.org/omim/314380|UMLS:C1839116
MONDO:0010754	van den Bosch syndrome	biolink:Disease	mondo	Orphanet:3417|SCTID:733110004|GARD:0005453|OMIM:314500|MESH:C563129|UMLS:C0796192	ordo_malformation_syndrome|gard_rare	van den Bosch syndrome|mental deficiency, choroideremia, acrokeratosis verruciformis,anhidrosis, skeletal deformity	http://purl.obolibrary.org/obo/MONDO_0010754	Van den Bosch syndrome is characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion.	MESH:C563129|SNOMEDCT:733110004|http://identifiers.org/omim/314500|UMLS:C0796192|ORPHA:3417
MONDO:0010753	cardiac valvular dysplasia, X-linked	biolink:Disease	mondo	OMIM:314400|MESH:C535576|DOID:0111765|GARD:0001096	gard_rare	cardiac valvular dysplasia, X-linked|valvular heart disease, congenital|CVD1|XMVD|CARDIAC valvular dysplasia, X-linked; CVD1|myxomatous valvular dystrophy, X-linked	http://purl.obolibrary.org/obo/MONDO_0010753		DOID:0111765|MESH:C535576|http://identifiers.org/omim/314400
RO:0002436	molecularly interacts with	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002436	An interaction relationship in which the two partners are molecular entities that directly physically interact with each other for example via a stable binding interaction or a brief interaction during which one modifies the other.	
MONDO:0022723	chondrodysplasia	biolink:Disease	mondo	SCTID:205465004		chondrodysplasia	http://purl.obolibrary.org/obo/MONDO_0022723		SNOMEDCT:205465004
HGNC:30237	CC2D1A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30237		
MONDO:0022725	obsolete chondrodysplasia lethal recessive	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0022725		
HP:0100659	Abnormality of the cerebral vasculature	biolink:PhenotypicFeature	mondo	UMLS:C4022001		Abnormality of the cerebral blood vessels	http://purl.obolibrary.org/obo/HP_0100659		
MONDO:0022728		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0022728		
MONDO:0022729	chondrodysplasia punctata with steroid sulfatase deficiency	biolink:Disease	mondo	GARD:0006050	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022729		
HP:0100658	Cellulitis	biolink:PhenotypicFeature	mondo	UMLS:C0007642|SNOMEDCT_US:385627004|MSH:D017192|SNOMEDCT_US:128936008|MSH:D002481|SNOMEDCT_US:128045006|UMLS:C0162627	hposlim_core	Skin infections|Bacterial infection of skin|Skin infection	http://purl.obolibrary.org/obo/HP_0100658	A bacterial infection and inflammation of the skin und subcutaneous tissues.	
HGNC:20893	BCOR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20893		
MONDO:0009749	giant axonal neuropathy 1	biolink:Disease	mondo	OMIM:256850|GARD:0006500|Orphanet:643|DOID:0090068|ICD10:G60.8	ordo_disease	giant axonal neuropathy caused by mutation in gan|giant axonal neuropathy caused by mutation in GAN|GAN1|giant axonal neuropathy type 1|giant axonal neuropathy 1, autosomal recessive; GAN1|gan|neuropathy, giant axonal|GAN giant axonal neuropathy|gan giant axonal neuropathy|giant axonal neuropathy 1, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009749	Giant axonal neuropathy (GAN) is a degenerative disorder that is characterised by a progressive motor and sensitive peripheral and central nervous system neuropathy.	ORPHA:643|DOID:0090068|http://identifiers.org/omim/256850
MONDO:0009748	hereditary sensory and autonomic neuropathy with spastic paraplegia	biolink:Disease	mondo	MESH:C564948|OMIM:256840|UMLS:C1850395|UMLS:C4303565|Orphanet:139578|ICD10:G60.8|SCTID:717827000	ordo_disease	HSAN with spastic paraplegia|neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009748	This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia.	SNOMEDCT:717827000|MESH:C564948|ORPHA:139578|UMLS:C1850395|http://identifiers.org/omim/256840|UMLS:C4303565
MONDO:0009747	Navajo neurohepatopathy	biolink:Disease	mondo	MESH:C538344|GARD:0003972|Orphanet:255229|DOID:0080125|OMIM:256810	ordo_disease	MPV17-related hepatocerebral mitochondrial DNA depletion syndrome|NN|Navajo familial neurogenic arthropathy|mitochondrial DNA depletion syndrome 6 (hepatocerebral type); MTDPS6|mitochondrial DNA depletion syndrome 6|mitochondrial DNA depletion syndrome 6 (hepatocerebral type)|Navajo neuropathy|MTDPS6|Navajo neurohepatopathy	http://purl.obolibrary.org/obo/MONDO_0009747		UMLS:C1850406|MESH:C538344|ORPHA:255229|DOID:0080125|http://identifiers.org/omim/256810
MONDO:0009746	hereditary sensory and autonomic neuropathy type 4	biolink:Disease	mondo	GARD:0003006|SCTID:62985007|NCIT:C118633|PMID:8696348|PMID:14272277|ICD10:G60.8|UMLS:C0020074|DOID:0070146|Orphanet:642|OMIM:256800|GARD:3006	ordo_disease	insensitivity to pain, congenital, with anhidrosis|familial dysautonomia, type 2|congenital insensitivity to pain with anhidrosis|hereditary sensory and autonomic neuropathy type IV|HSAN4|hereditary sensory and autonomic neuropathy 4|CIPA|CIP-anhidrosis syndrome|hereditary sensory neuropathy type 4|congenital insensitivity to pain-anhidrosis syndrome|NTRK1 hereditary sensory and autonomic neuropathy|neuropathy, congenital sensory, with anhidrosis|hereditary sensory neuropathy type IV|insensitivity to pain, congenital, with anhidrosis; CIPA|HSNAN4|HSAN IV|hereditary sensory and autonomic neuropathy caused by mutation in NTRK1|HSAN 4	http://purl.obolibrary.org/obo/MONDO_0009746	Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.	UMLS:C0020074|DOID:0070146|NCIT:C118633|SNOMEDCT:62985007|ORPHA:642|http://identifiers.org/omim/256800
MONDO:0009745	neuronal ceroid lipofuscinosis 5	biolink:Disease	mondo	Orphanet:228360|ICD10:E75.4|DOID:0110728|MESH:C575534|OMIM:256731|GARD:0001223	ordo_etiological_subtype|gard_rare	ceroid lipofuscinosis, neuronal, 5|CLN5 disease, juvenile|neuronal ceroid lipofuscinosis type 5|neuronal ceroid lipofuscinosis, late infantile, Finnish variant|neuronal ceroid lipofuscinosis caused by mutation in CLN5|ceroid lipofuscinosis, neuronal, type 5|CLN5 disease, adult|ceroid lipofuscinosis, neuronal, 5; CLN5|CLN5 disease, late infantile (subtype)|CLN5 disease|CLN5|ceroid lipofuscinosis, neuronal, 5, variable Age at onset|neuronal ceroid lipofuscinosis 5 variable age of onset|CLN5 neuronal ceroid lipofuscinosis|Finnish Vlincl|neuronal ceroid lipofuscinosis Finnish variant	http://purl.obolibrary.org/obo/MONDO_0009745	Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.	MESH:C575534|ORPHA:228360|http://identifiers.org/omim/256731|DOID:0110728
MONDO:0010734	spatial visualization, aptitude for	biolink:Disease	mondo	MESH:C564058|OMIM:313000|UMLS:C1839262		Turner syndrome-associated Neurocognitive phenotype|visuospatial/perceptual abilities|spatial visualization, aptitude for	http://purl.obolibrary.org/obo/MONDO_0010734		UMLS:C1839262|MESH:C564058|http://identifiers.org/omim/313000
MONDO:0010733	hereditary spastic paraplegia 2	biolink:Disease	mondo	UMLS:C1839264|OMIM:312920|GARD:0004923|DOID:0110773|SCTID:723622007|ICD10:G11.4|Orphanet:99015	ordo_disease	X-linked spastic paraplegia type 2|Sppx2|spastic paraplegia 2|X-linked spastic paraplegia 2|hereditary spastic paraplegia type 2|SPG2|spastic paraplegia 2, X-linked; SPG2|spastic paraplegia type 2|spastic paraplegia 2, X-linked|hereditary spastic paraplegia caused by mutation in PLP1|PLP1 hereditary spastic paraplegia|spastic gait type 2|spastic paraparesis type 2	http://purl.obolibrary.org/obo/MONDO_0010733	Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.	ORPHA:99015|http://identifiers.org/omim/312920|UMLS:C1839264|MESH:C536857|SNOMEDCT:723622007|DOID:0110773
MONDO:0009744	neuronal ceroid lipofuscinosis 1	biolink:Disease	mondo	Orphanet:228329|OMIM:256730|NCIT:C85861|GARD:0001219|ICD10:E75.4|DOID:0110721	gard_rare|ordo_etiological_subtype	Santavuori disease|neuronal ceroid lipofuscinosis, infantile|CLN1 variable age at onset|adult CLN (type of CLN1)|ceroid lipofuscinosis, neuronal, 1|CLN1|ceroid lipofuscinosis, neuronal, 1, variable Age at onset|infantile CLN (type of CLN1)|neuronal ceroid lipofuscinosis caused by mutation in PPT1|neuronal ceroid lipofuscinosis 1 variable age of onset|juvenile CLN (type of CLN1)|PPT1 neuronal ceroid lipofuscinosis|ceroid lipofuscinosis, neuronal, type 1|CLN1 disease|classic late infantile CLN (type of CLN1)|ceroid lipofuscinosis neuronal 1|neuronal ceroid lipofuscinosis type 1|Santavuori-Haltia disease|ceroid lipofuscinosis, neuronal, 1; CLN1|infantile neuronal ceroid lipofuscinosis	http://purl.obolibrary.org/obo/MONDO_0009744	A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.	NCIT:C85861|ORPHA:228329|http://identifiers.org/omim/256730|DOID:0110721
RO:0002430	involved in negative regulation of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002430	c involved in regulation of p if c is involved in some p' and p' negatively regulates some p	
MONDO:0010736	split hand-foot malformation 2	biolink:Disease	mondo	DOID:0090027|GARD:0004968|OMIM:313350|MESH:C564056|ICD10:Q71.6	gard_rare	SHSF2|split hand-foot malformation type 2|split-hand/foot deformity 2|SHFM2|split hand/foot malformation X-linked|split-hand/split-foot anomaly, X-linked|split-hand/foot malformation 2; SHFM2|SHFD2|split hand foot anomaly - X-linked|split hand foot deformity 2|split-hand/foot malformation 2	http://purl.obolibrary.org/obo/MONDO_0010736	A split-hand/foot malformation that has material basis in variation in the chromosome region Xq26.	MESH:C564056|DOID:0090027|http://identifiers.org/omim/313350
MONDO:0009743	neurologic disease, infantile multisystem, with osseous fragility	biolink:Disease	mondo	MESH:C564954|UMLS:C1850465|OMIM:256720		neurologic disease, infantile multisystem, with osseous fragility	http://purl.obolibrary.org/obo/MONDO_0009743		UMLS:C1850465|http://identifiers.org/omim/256720|MESH:C564954
RO:0002431	involved in or involved in regulation of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002431	c involved in or regulates p if and only if either (i) c is involved in p or (ii) c is involved in regulation of p	
MONDO:0009742	neuroectodermal melanolysosomal disease	biolink:Disease	mondo	UMLS:C1860157|OMIM:256710|SCTID:724091002|Orphanet:33445|MESH:C536203|ICD10:L81.4	ordo_malformation_syndrome	ELEJALDE disease|Elejalde disease|neuroectodermal melanolysosomal disease	http://purl.obolibrary.org/obo/MONDO_0009742	Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment.	ORPHA:33445|UMLS:C1860157|MESH:C536203|SNOMEDCT:724091002|http://identifiers.org/omim/256710
MONDO:0010735	Kennedy disease	biolink:Disease	mondo	MedDRA:10068600|MESH:D055534|NCIT:C85233|GARD:0006818|UMLS:C1839259|Orphanet:481|OMIM:313200|ICD10:G12.2|DOID:0060161	ordo_disease	spinal and bulbar muscular atrophy, X-linked 1; SMAX1|spinal and bulbar muscular atrophy|SMAX1|Kennedy spinal and bulbar muscular atrophy|bulbospinal neuronopathy, X-linked recessive|Kennedy disease|spinal and bulbar muscular atrophy, X-linked 1|X-linked BSMA|spinal and bulbar muscular atrophy, X-linked type 1|spinobulbar muscular atrophy|X-linked spinal and bulbar muscular atrophy|X-linked bulbo-spinal atrophy|X-linked bulbospinal amyotrophy|X-linked bulbospinal muscular atrophy|Kennedy's disease|spinal bulbar muscular atrophy|bulbospinal muscular atrophy, X-linked|SBMA	http://purl.obolibrary.org/obo/MONDO_0010735	Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting.	MESH:D055534|UMLS:C0752353|ORPHA:481|UMLS:C1839259|DOID:0060161|NCIT:C85233|http://identifiers.org/omim/313200|UMLS:C0393547|MEDDRA:10068600
RO:0002432	is active in	biolink:OntologyClass	mondo			enables activity in	http://purl.obolibrary.org/obo/RO_0002432	c executes activity in d if and only if c enables p and p occurs_in d.  Assuming no action at a distance by gene products, if a gene product enables (is capable of) a process that occurs in some structure, it must have at least some part in that structure.	
MONDO:0009741	neuroblastoma, susceptibility to	biolink:Disease	mondo	OMIM:256700	predisposition	neuroblastoma, susceptibility to, 1|susceptibility to neuroblastoma|neuroblastoma, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0009741		http://identifiers.org/omim/256700
MONDO:0010738	spondylometaphyseal dysplasia, Golden type	biolink:Disease	mondo	OMIM:313420|GARD:0008343|MESH:C563124|ICD10:Q77.8|Orphanet:168544|UMLS:C0796172	ordo_disease	spondylometaphyseal dysplasia X-linked|X-linked spondylometaphyseal dysplasia|spondylometaphyseal dysplasia, X-linked|spondylometaphyseal dysplasia, Richmond type|spondylometaphyseal dysplasia Richmond type	http://purl.obolibrary.org/obo/MONDO_0010738	Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base.	http://identifiers.org/omim/313420|UMLS:C0796172|MESH:C563124|ORPHA:168544
MONDO:0010737	spondyloepiphyseal dysplasia tarda, X-linked	biolink:Disease	mondo	OMIM:313400|GARD:0004985	gard_rare	X-linked spondyloepiphyseal dysplasia|X linked spondyloepiphyseal dysplasia tarda|spondyloepiphyseal dysplasia tarda, X-linked|spondyloepiphyseal dysplasia tarda X-linked|Sed tarda, X-linked|SED|SEDT|spondyloepiphyseal dysplasia tarda, X-linked; SEDT|spondyloepiphyseal dysplasia, late	http://purl.obolibrary.org/obo/MONDO_0010737	X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong arms,and premature osteoarthritis, especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Other skeletal features of this condition include decreased mobility of the elbow and hip joints, arthritis, and abnormalities of the hip joint which causes the upper leg bones to turn inward. This condition is caused by mutations in the TRAPPC2 gene and is inherited in an X-linked recessive pattern.	http://identifiers.org/omim/313400
MONDO:0009740	neurofaciodigitorenal syndrome	biolink:Disease	mondo	UMLS:C0796088|OMIM:256690|GARD:0003964|MESH:C537388|SCTID:725908007|ICD10:Q87.8|Orphanet:2673	gard_rare|ordo_malformation_syndrome	Freire Maia-Pinheiro-Opitz syndrome|Nfdr syndrome|neurofaciodigitorenal syndrome|Freire-Maia Pinheiro Opitz syndrome	http://purl.obolibrary.org/obo/MONDO_0009740	Neurofaciodigitorenal syndrome is a rare, multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997.	UMLS:C0796088|MESH:C537388|ORPHA:2673|SNOMEDCT:725908007|http://identifiers.org/omim/256690
HGNC:29222	ZNF644	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29222		
MONDO:0010739	Taqi polymorphism	biolink:Disease	mondo	OMIM:313480		TaqI polymorphism; TAQ1|Taqi polymorphism|TAQ1	http://purl.obolibrary.org/obo/MONDO_0010739		http://identifiers.org/omim/313480
HGNC:2295	CP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2295		
RO:0002427	causally downstream of or within	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002427	inverse of causally upstream of or within	
RO:0002428	involved in regulation of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002428	c involved in regulation of p if c is involved in some p' and p' regulates some p	
RO:0002429	involved in positive regulation of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002429	c involved in regulation of p if c is involved in some p' and p' positively regulates some p	
MONDO:0010741	tooth agenesis, selective, X-linked, 1	biolink:Disease	mondo	OMIM:313500|UMLS:C1970757|MESH:C567060		STHAGX1|EDA tooth agenesis|tooth agenesis caused by mutation in EDA|hypodontia/oligodontia, X-linked, 1|tooth agenesis, selective, X-linked, type 1|tooth agenesis, selective, X-linked, 1|tooth agenesis, selective, X-linked, 1; STHAGX1	http://purl.obolibrary.org/obo/MONDO_0010741	Any tooth agenesis in which the cause of the disease is a mutation in the EDA gene.	http://identifiers.org/omim/313500|MESH:C567060|UMLS:C1970757
MONDO:0010740	taurodontism, microdontia, and dens invaginatus	biolink:Disease	mondo	GARD:0010068|OMIM:313490|UMLS:C1839235|MESH:C536947	gard_rare	taurodontism, microdontia, and dens invaginatus	http://purl.obolibrary.org/obo/MONDO_0010740		UMLS:C1839235|MESH:C536947|http://identifiers.org/omim/313490
GO:0042423	catecholamine biosynthetic process	biolink:OntologyClass	mondo			catecholamine synthesis|catecholamine formation|catecholamine anabolism|catecholamine biosynthesis	http://purl.obolibrary.org/obo/GO_0042423	The chemical reactions and pathways resulting in the formation of any of a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine.	
HGNC:2291	COX7B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2291		
MONDO:0010743	thrombocytopenia 1	biolink:Disease	mondo	GARD:0005176|UMLS:C1839163|ICD10:D69.4|Orphanet:852|OMIM:313900	ordo_etiological_subtype	XLT|thrombocytopenia, X-linked, intermittent|thrombocytopenia 1; THC1|THC|THC1|thrombocytopenia type 1|thrombocytopenia, X-linked|X-linked thrombocytopenia|X-linked thrombocytopenia with normal platelets|thrombocytopenia, X-linked, 1|thrombocytopenia 1	http://purl.obolibrary.org/obo/MONDO_0010743		UMLS:C1839163|ORPHA:852|http://identifiers.org/omim/313900
MONDO:0010742	pentalogy of Cantrell	biolink:Disease	mondo	NCIT:C99011|UMLS:C0559483|GARD:0007359|Orphanet:1335|ICD10:Q89.7|MESH:D058502|ICD9:759.89|SCTID:281587000|OMIM:313850	ordo_malformation_syndrome|gard_rare	thoraco-abdominal syndrome|Cantrell pentalogy|Tas|THAS|Cantrell deformity|thoracoabdominal syndrome; THAS|pentalogy of Cantrell|thoracoabdominal syndrome|Midline defects, X-linked|Cantrell Haller Ravitsch syndrome|Cantrell syndrome	http://purl.obolibrary.org/obo/MONDO_0010742	Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC.	ORPHA:1335|NCIT:C99011|UMLS:C0559483|MESH:D058502|SNOMEDCT:281587000|http://identifiers.org/omim/313850
MONDO:0022712	oculo digital syndrome	biolink:Disease	mondo	MESH:C535922|GARD:0004025|UMLS:C2931063	gard_rare	multiple ophthalmic anomalies and digital hypoplasia|Chemke-Oliver-Mallek syndrome|Chemke Oliver Mallek syndrome	http://purl.obolibrary.org/obo/MONDO_0022712		MESH:C535922|UMLS:C2931063
HGNC:30225	SLC52A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30225		
HGNC:20889	LRIG2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20889		
MONDO:0022714	chester porphyria	biolink:Disease	mondo	GARD:0010185	gard_rare	PORC|porphyria, Chester type	http://purl.obolibrary.org/obo/MONDO_0022714	Chester porphyria is a unique type of porphyria with the signs and symptoms of acute intermittent porphyria (AIP) and the biochemical defects of both AIP and variegate porphyria (VP). Chester porphyria does not conform to any of the recognized types of acute porphyria. The symptoms associated with Chester porphyria are similar to those observed in other acute porphyrias. Treatment is symptomatic.	
MONDO:0022715	Chiari malformation type 3	biolink:Disease	mondo	GARD:0009233|SCTID:253186001	gard_rare	Arnold Chiari malformation type III|Chiari malformation type III|Chiari type III malformation	http://purl.obolibrary.org/obo/MONDO_0022715		SNOMEDCT:253186001
HGNC:30224	SLC52A2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30224		
HP:0002197	Generalized-onset seizure	biolink:PhenotypicFeature	mondo	UMLS:C0234533|SNOMEDCT_US:246545002|UMLS:C1833488|MSH:D012640		Generalised-onset seizure|Generalised onset seizure|Generalized seizures|Generalized-onset seizures|Generalized onset seizure|Primary generalized seizure	http://purl.obolibrary.org/obo/HP_0002197	A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.	
MONDO:0022716	Chiari malformation type 4	biolink:Disease	mondo	GARD:0009234|SCTID:253187005	gard_rare	Arnold Chiari malformation type IV|Chiari type IV malformation|Chiari malformation type IV	http://purl.obolibrary.org/obo/MONDO_0022716		SNOMEDCT:253187005
HP:0002198	Dilated fourth ventricle	biolink:PhenotypicFeature	mondo	UMLS:C1847117		Enlarged fourth ventricle	http://purl.obolibrary.org/obo/HP_0002198	An abnormal dilatation of the fourth cerebral ventricle.	
HGNC:17245	CPA6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17245		
HGNC:30220	RFT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30220		
CHEBI:33909	metallotetrapyrrole	biolink:ChemicalSubstance	mondo			metal-tetrapyrrole|metal-tetrapyrrole complex|metallotetrapyrroles	http://purl.obolibrary.org/obo/CHEBI_33909		
MONDO:0009759	mosaic variegated aneuploidy syndrome 1	biolink:Disease	mondo	UMLS:CN031748|OMIM:257300|DOID:0080141		MOSAIC variegated aneuploidy syndrome 1; MVA1|mosaic variegated aneuploidy syndrome type 1|Mosaic variegated aneuploidy syndrome type 1|MVA1|BUB1B mosaic variegated aneuploidy syndrome|MVA syndrome|mosaic variegated aneuploidy syndrome caused by mutation in BUB1B|mosaic variegated aneuploidy syndrome 1	http://purl.obolibrary.org/obo/MONDO_0009759	Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the BUB1B gene.	DOID:0080141|http://identifiers.org/omim/257300|UMLS:CN031748
MONDO:0009758	congenital stationary night blindness 1B	biolink:Disease	mondo	DOID:0110865|OMIM:257270|UMLS:C1850362		CSNB, complete, autosomal recessive|congenital stationary night blindness caused by mutation in GRM6|night blindness, congenital stationary, complete, autosomal recessive|night blindness, congenital stationary, type 1B|CSNB1B|GRM6 congenital stationary night blindness|night blindness, congenital stationary, type 1B; CSNB1B|congenital stationary night blindness 1B autosomal recessive|congenital stationary night blindness type 1B|autosomal recessive complete congenital stationary night blindness	http://purl.obolibrary.org/obo/MONDO_0009758	Any congenital stationary night blindness in which the cause of the disease is a mutation in the GRM6 gene.	UMLS:C1850362|http://identifiers.org/omim/257270|DOID:0110865
MONDO:0009757	Niemann-Pick disease, type C1	biolink:Disease	mondo	SCTID:18927009|NCIT:C126864|OMIM:257220|ICD10:E75.2|DOID:0070113|GARD:0007207|UMLS:C3179455		Niemann-Pick disease with cholesterol esterification block|Niemann-Pick disease type C1|Niemann-Pick disease, type D|Niemann-Pick disease, nova Scotian type|Niemann-Pick disease, type C|NPC1|Niemann-Pick disease without sphingomyelinase deficiency|Niemann-Pick disease, subacute juvenile form|neurovisceral storage disease with vertical supranuclear ophthalmoplegia|Niemann-PICK disease, type C1; NPC1|type C1 Niemann-Pick disease|Niemann-Pick disease, type C1|Niemann-Pick disease, chronic neuronopathic form	http://purl.obolibrary.org/obo/MONDO_0009757	Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein.	NCIT:C126864|DOID:0070113|UMLS:C3179455|http://identifiers.org/omim/257220|SNOMEDCT:18927009
MONDO:0009756	Niemann-Pick disease type A	biolink:Disease	mondo	SCTID:52165006|GARD:0007206|OMIM:257200|ICD10:E75.2|UMLS:C0268242|MESH:D052536|NCIT:C126561|DOID:0070111|Orphanet:77292	ordo_disease	sphingomyelin lipidosis|Niemann-PICK disease, type A|Niemann-Pick disease, Intermediate, protracted neurovisceral|sphingomyelinase deficiency	http://purl.obolibrary.org/obo/MONDO_0009756	Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.	DOID:0070111|UMLS:C0268242|http://identifiers.org/omim/257200|SNOMEDCT:52165006|MESH:D052536|NCIT:C126561|ORPHA:77292
MONDO:0010723	retinitis pigmentosa 2	biolink:Disease	mondo	ICD10:H35.5|MESH:C567523|UMLS:C2681923|DOID:0110415|OMIM:312600		retinitis pigmentosa caused by mutation in RP2|RP2 retinitis pigmentosa|RP2|retinitis pigmentosa 2; RP2|retinitis pigmentosa 2|retinitis pigmentosa type 2	http://purl.obolibrary.org/obo/MONDO_0010723	Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP2 gene.	http://identifiers.org/omim/312600|MESH:C567523|UMLS:C2681923|DOID:0110415
MONDO:0010722	X-linked retinal dysplasia	biolink:Disease	mondo	GARD:0004680|UMLS:C4275241|OMIM:312550|Orphanet:1852|SCTID:715240000|ICD10:Q14.1	ordo_disease|gard_rare	retinal dysplasia, primary; PRD|retinal dysplasia, primary|retinal dysplasia X-linked|PRD	http://purl.obolibrary.org/obo/MONDO_0010722		http://identifiers.org/omim/312550|ORPHA:1852|SNOMEDCT:715240000|UMLS:C4275241
MONDO:0009755	neutrophil actin dysfunction	biolink:Disease	mondo	UMLS:C1850380|MESH:C564942|NCIT:C3694|OMIM:257150		Atypical Nevus|neutrophil actin dysfunction|Clark's Nevus|Nevus with architectural disorder|dysplastic nevi|lentiginous Nevus|NAD|neutrophil actin dysfunction; NAD|Nevus with architectural disorder and cytologic atypia of melanocytes|dysplastic nevus|dysplastic Nevus|Clark Nevus	http://purl.obolibrary.org/obo/MONDO_0009755	Solitary or multiple, slightly raised, pigmented lesions with irregular borders, usually measuring more than 0.6cm in greatest dimension. Morphologically, there is melanocytic atypia and the differential diagnosis from melanoma may be difficult. Patients are at an increased risk for the development of melanoma.	UMLS:C1850380|NCIT:C3694|http://identifiers.org/omim/257150|MESH:C564942
GO:0042430	indole-containing compound metabolic process	biolink:OntologyClass	mondo			indole and derivative metabolism|indole derivative metabolism|ketole metabolic process|indole-containing compound metabolism|ketole metabolism|indole and derivative metabolic process|indole derivative metabolic process	http://purl.obolibrary.org/obo/GO_0042430	The chemical reactions and pathways involving compounds that contain an indole (2,3-benzopyrrole) skeleton.	
MONDO:0010725	X-linked retinoschisis	biolink:Disease	mondo	ICD10:Q14.1|NCIT:C75483|SCTID:86923008|GARD:0004690|DOID:0060763|Orphanet:792|OMIM:312700	ordo_malformation_syndrome	X-linked juvenile retinoschisis|retinoschisis 1, X-linked, juvenile; RS1|retinoschisis 1, X-linked, juvenile|retinoschisis juvenile X chromosome-linked|XLRS|juvenile retinoschisis|RS|XJR|X-linked juvenile retinoschisis type 1|retinoschisis X-linked|X-linked retinoschisis|juvenile X-linked retinoschisis|RS1|XLRS1|X-linked juvenile retinoschisis 1|retinoschisis, X-linked	http://purl.obolibrary.org/obo/MONDO_0010725	X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration.	http://identifiers.org/omim/312700|NCIT:C75483|ORPHA:792|SNOMEDCT:86923008|DOID:0060763
MONDO:0009754	neutropenia, lethal congenital, with eosinophilia	biolink:Disease	mondo	MESH:C564943|UMLS:C1850381|OMIM:257100|GARD:0006107	gard_rare	neutropenia lethal congenital with eosinophilia|lethal congenital neutropenia with eosinophilia|neutropenia, lethal congenital, with eosinophilia	http://purl.obolibrary.org/obo/MONDO_0009754		UMLS:C1850381|http://identifiers.org/omim/257100|MESH:C564943
MONDO:0009753	obsolete neurovisceral storage disease with Curvilinear bodies	biolink:Disease	mondo	UMLS:C1850382|OMIM:257000|MESH:C564944		neurovisceral storage disease with Curvilinear bodies	http://purl.obolibrary.org/obo/MONDO_0009753		UMLS:C1850382|http://identifiers.org/omim/257000|MESH:C564944
MONDO:0010724	obsolete RP6	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0010724		
MONDO:0010727	Russell-silver syndrome, X-linked	biolink:Disease	mondo	SCTID:702412005|ICD9:758.81|OMIM:312780		Russell-Silver-like syndrome with skin pigmentation|Partington syndrome|Russell-silver syndrome, X-linked	http://purl.obolibrary.org/obo/MONDO_0010727		http://identifiers.org/omim/312780|SNOMEDCT:702412005
MONDO:0009752	neuropathy, painful	biolink:Disease	mondo	MESH:C564945|UMLS:C1850383|OMIM:256870		neuropathy, painful	http://purl.obolibrary.org/obo/MONDO_0009752		UMLS:C1850383|http://identifiers.org/omim/256870|MESH:C564945
MONDO:0010726	Rett syndrome	biolink:Disease	mondo	GARD:0005696|UMLS:C0035372|DOID:1206|MESH:D015518|ICD10:F84.2|NCIT:C75488|SCTID:68618008|OMIM:312750|MedDRA:10039000|ICD9:330.8|Orphanet:778	ordo_disease	Rett syndrome, atypical|Rett syndrome, preserved speech variant|Rett's disorder|Rts|Rett syndrome; RTT|cerebroatrophic hyperammonemia|Rett syndrome|autism, dementia, ataxia, and loss of purposeful hand use|Rett syndrome, Zappella variant|RTT	http://purl.obolibrary.org/obo/MONDO_0010726	Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.	MESH:D015518|http://identifiers.org/omim/312750|SNOMEDCT:68618008|NCIT:C75488|ORPHA:778|UMLS:C0035372|MEDDRA:10039000|DOID:1206
MONDO:0009751	neuropathy, hereditary sensory, atypical	biolink:Disease	mondo	UMLS:C1850384|OMIM:256860|DOID:0070160|MESH:C564946		neuropathy, hereditary sensory, atypical|atypical hereditary sensory neuropathy	http://purl.obolibrary.org/obo/MONDO_0009751	A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities.	UMLS:C1850384|http://identifiers.org/omim/256860|MESH:C564946|DOID:0070160
MONDO:0009750	neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive	biolink:Disease	mondo	UMLS:C1850385|MESH:C564947|OMIM:256855		Charcot-Marie-Tooth disease with excessive myelin folding, autosomal recessive|neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive|HMSN with excessive myelin Outfolding, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009750		UMLS:C1850385|http://identifiers.org/omim/256855|MESH:C564947
MONDO:0010729	X-linked intellectual disability, Schimke type	biolink:Disease	mondo	UMLS:C1839320|GARD:0009288|OMIM:312840|ICD10:Q87.8|Orphanet:85285|SCTID:719010001|MESH:C536630	ordo_malformation_syndrome	choreoathetosis with intellectual disability, X-linked|childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and intellectual disability, ophthalmoplegia, and deafness|choreoathetosis with intellectual disability X- linked|progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness|choreoathetosis with mental retardation, X-linked|Schimke X-linked intellectual disability syndrome|Schimke X-linked mental retardation syndrome|choreoathetosis with mental retardation X- linked|childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and mental retardation, ophthalmoplegia, and deafness	http://purl.obolibrary.org/obo/MONDO_0010729	X-linked mental retardation, Schimke type, is characterised by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked.	http://identifiers.org/omim/312840|SNOMEDCT:719010001|ORPHA:85285|UMLS:C1839320|MESH:C536630
MONDO:0010728	scarf syndrome	biolink:Disease	mondo	OMIM:312830|MESH:C536625|Orphanet:3134|GARD:0000247|SCTID:734173003|UMLS:C1839321|ICD10:Q82.8	ordo_malformation_syndrome	scarf syndrome|skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and Facial abnormalities	http://purl.obolibrary.org/obo/MONDO_0010728	SCARF syndrome is characterised by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive.	ORPHA:3134|http://identifiers.org/omim/312830|UMLS:C1839321|SNOMEDCT:734173003|MESH:C536625
CHEBI:33906	cobalt corrinoid	biolink:ChemicalSubstance	mondo			cobalt corrinoids|cobalt-corrinoids	http://purl.obolibrary.org/obo/CHEBI_33906		
RO:0002418	causally upstream of or within	biolink:OntologyClass	mondo			affects	http://purl.obolibrary.org/obo/RO_0002418	p 'causally upstream or within' q iff (1) the end of p is before the end of q and (2) the execution of p exerts some causal influence over the outputs of q; i.e. if p was abolished or the outputs of p were to be modified, this would necessarily affect q.	
MONDO:0010730	combined immunodeficiency, X-linked	biolink:Disease	mondo	OMIM:312863		immunodeficiency 6|Xcid|combined immunodeficiency, X-linked|combined immunodeficiency, X-linked; CIDX|CIDX	http://purl.obolibrary.org/obo/MONDO_0010730		http://identifiers.org/omim/312863
RO:0002411	causally upstream of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002411	p is causally upstream of q if and only if p precedes q and p and q are linked in a causal chain	
RO:0002412	immediately causally upstream of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002412	p is immediately causally upstream of q iff both (a) p immediately precedes q and (b) p is causally upstream of q. In addition, the output of p  must be an input of q.	
MONDO:0010732	spastic paraparesis-deafness syndrome	biolink:Disease	mondo	SCTID:715504003|UMLS:C2931291|Orphanet:2815|OMIM:312910|ICD10:G11.4|GARD:0005555|MESH:C536692	ordo_malformation_syndrome	spastic paraparesis - deafness|spastic paraparesis and deafness|familial spastic paraparesis and deafness|Wells-Jankovic syndrome	http://purl.obolibrary.org/obo/MONDO_0010732	Spastic paraparesis-deafness syndrome is a chronic neurodegenerative disorder characterised by spastic paraparesis (beginning at about 10 years of age) and hearing deficits.	SNOMEDCT:715504003|http://identifiers.org/omim/312910|ORPHA:2815|MESH:C536692|UMLS:C2931291
MONDO:0010731	Simpson-Golabi-Behmel syndrome	biolink:Disease	mondo	ICD10:Q87.3|GARD:0007649|Orphanet:373|MESH:C537340|ICD9:759.89|NCIT:C131002|SCTID:439143004	ordo_malformation_syndrome|gard_rare	Golabi-Rosen syndrome|SDYS|Sgbs|DGSX|SGB syndrome|Sara Angers syndrome|SGBS|dysplasia gigantism syndrome, X-linked|X-linked dysplasia gigantism syndrome	http://purl.obolibrary.org/obo/MONDO_0010731	Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.	http://identifiers.org/omim/312870|MESH:C537340|ORPHA:373|NCIT:C131002|SNOMEDCT:439143004
HGNC:30213	ATP13A2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30213		
MONDO:0022781	cleft lip palate-tetraphocomelia	biolink:Disease	mondo	GARD:0001383	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022781		
MONDO:0022782	cleft lower lip cleft lateral canthi chorioretinal	biolink:Disease	mondo	GARD:0001386	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022782		
MONDO:0019131	ossification anomalies-psychomotor developmental delay syndrome	biolink:Disease	mondo	UMLS:CN227577|Orphanet:73230|ICD10:Q79.8	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019131	Ossification anomalies-psychomotor developmental delay syndrome is characterised by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodelling during ossification.	UMLS:CN227577|ORPHA:73230
MONDO:0019130	tubular renal disease-cardiomyopathy syndrome	biolink:Disease	mondo	UMLS:CN205654|ICD10:N25.8|Orphanet:73224	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019130	Tubular renal disease-cardiomyopathy syndrome is characterised by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy.	UMLS:CN205654|ORPHA:73224
MONDO:0022785	cleft palate cardiac defect ectrodactyly	biolink:Disease	mondo	GARD:0001387	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022785		
MONDO:0022786	cleft palate colobomata radial synostosis deafness	biolink:Disease	mondo	GARD:0001388	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022786		
MONDO:0022787	cleft palate heart disease polydactyly absent tibia	biolink:Disease	mondo	GARD:0001389	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022787		
MONDO:0007148	appendicitis, proneness to	biolink:Disease	mondo	OMIM:107700		appendicitis, susceptibility|appendicitis, proneness to	http://purl.obolibrary.org/obo/MONDO_0007148		http://identifiers.org/omim/107700
MONDO:0020126	obsolete rare peripheral neuropathy	biolink:Disease	mondo	Orphanet:98496	ordo_group_of_disorders|obsoletion_candidate	rare peripheral neuropathy	http://purl.obolibrary.org/obo/MONDO_0020126	Rare peripheral neuropathy.	ORPHA:98496
HGNC:29203	TBC1D24	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29203		
MONDO:0020125	acquired neuromuscular junction disease	biolink:Disease	mondo	UMLS:CN207015|Orphanet:98494	ordo_group_of_disorders	acquired neuromuscular junction disease	http://purl.obolibrary.org/obo/MONDO_0020125	An instance of neuromuscular junction disease that is acquired during the lifetime of the individual.	ORPHA:98494|UMLS:CN207015
MONDO:0010799	aminoglycoside-induced deafness	biolink:Disease	mondo	OMIM:580000|MESH:C564013|UMLS:C1838854|Orphanet:168609|DOID:0111734	ordo_etiological_subtype|predisposition	deafness, aminoglycoside-induced|streptomycin ototoxicity|deafness, streptomycin-induced|mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure|mitochondrial non-syndromic neurosensory deafness with susceptibility to aminoglycoside exposure|mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure|mitochondrial non-syndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure|mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure|mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure|mitochondrial non-syndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure|mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure	http://purl.obolibrary.org/obo/MONDO_0010799		UMLS:C1838854|ORPHA:168609|http://identifiers.org/omim/580000|MESH:C564013|DOID:0111734
MONDO:0007149	obsolete arbitrary restriction polymorphism 1	biolink:Disease	mondo	UMLS:C1862555|OMIM:107750		restriction fragment length polymorphism 14A|Arp-14A|anonymous restriction polymorphism 1|arbitrary restriction polymorphism 1|arbitrary restriction polymorphism type 1|Rflp-14A	http://purl.obolibrary.org/obo/MONDO_0007149		http://identifiers.org/omim/107750|UMLS:C1862555
MONDO:0007146	obsolete apnea, central sleep	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0007146		
HGNC:29205	ERGIC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29205		
MONDO:0020124	neuromuscular junction disease	biolink:Disease	mondo	UMLS:C0751950|ICD10:G70.9|ICD10:G70.8|Orphanet:98491|ICD10:G70.2|ICD10:G70.1|DOID:439|MESH:D020511|SCTID:128213006|ICD10:G70.0	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020124	Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions.	MESH:D020511|ORPHA:98491|DOID:439|SNOMEDCT:128213006|UMLS:C0751950
MONDO:0007147	obstructive sleep apnea syndrome	biolink:Disease	mondo	ICD9:327.23|UMLS:C0520679|SCTID:78275009|ICD10:G47.33|NCIT:C27168|MESH:D020181|ICD10:G47.3|EFO:0003918|ICD9:780.57|DOID:0050848|ICD10:G47.30|HP:0002870|OMIM:107650		apnea, obstructive sleep|OSAHS|obstructive sleep apnea syndrome|obstructive sleep Apneas|Osa|syndrome, sleep apnea, obstructive|sleep apnea syndrome, obstructive|syndrome, obstructive sleep apnea|obstructive sleep apnea|syndrome, upper airway resistance, sleep apnea|sleep apnea/hypopnea syndrome|Apneas, obstructive sleep|sleep Apneas, obstructive|upper airway resistance sleep apnea syndrome|sleep apnea hypopnea syndrome	http://purl.obolibrary.org/obo/MONDO_0007147	Cessation of air flow during sleep due to upper airway obstruction.	NCIT:C116337|http://identifiers.org/omim/107650|DOID:0050848|NCIT:C27168|MESH:D020181|NCIT:C26884|UMLS:C0520679|SNOMEDCT:78275009
MONDO:0020123	metabolic myopathy	biolink:Disease	mondo	Orphanet:98486|MedDRA:10068836|NCIT:C98985|UMLS:C0270984|SCTID:26111005|ICD9:359.89	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020123	A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction.	NCIT:C98985|SNOMEDCT:26111005|MEDDRA:10068836|ORPHA:98486|UMLS:C0270984
RO:0002410	causally related to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002410	This relation groups causal relations between material entities and causal relations between processes	
MONDO:0020122	idiopathic inflammatory myopathy	biolink:Disease	mondo	Orphanet:98482|SCTID:702380008|NCIT:C116796|GARD:0009128|ICD9:359.79|UMLS:C0751356	ordo_group_of_disorders	IIm|idiopathic inflammatory myopathy, familial|IMM|idiopathic inflammatory myositis|idiopathic inflammatory myopathies	http://purl.obolibrary.org/obo/MONDO_0020122	An umbrella term for diseases which have chronic muscle inflammation and weakness of unknown etiology. The types of idiopathic inflammatory myopathy are further defined by either clinicopathologic criteria or by the presence of certain autoantibodies.	SNOMEDCT:702380008|ORPHA:98482|UMLS:C0751356|NCIT:C116796
MONDO:0007144	aortic arch interruption, facial palsy, and retinal coloboma	biolink:Disease	mondo	OMIM:107550|UMLS:C1862681|MESH:C566271		aortic arch interruption, facial palsy, and retinal coloboma	http://purl.obolibrary.org/obo/MONDO_0007144		http://identifiers.org/omim/107550|UMLS:C1862681|MESH:C566271
MONDO:0007145	aplasia cutis congenita (disease)	biolink:Disease	mondo	ICD9:757.39|GARD:0005835|Orphanet:1114|NCIT:C98822|HP:0001057|ICD10:Q84.8|SCTID:35484002|OMIM:107600|GARD:0000755	ordo_malformation_syndrome|gard_rare	aplasia cutis congenita, nonsyndromic|scalp defect congenital|aplasia cutis congenita nonsyndromic|scalp defect, congenital|congenital defect of skull and scalp|ACC|aplasia cutis congenita recessive|aplasia cutis congenita|aplasia cutis congenita, nonsyndromic; ACC	http://purl.obolibrary.org/obo/MONDO_0007145	Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies.	http://identifiers.org/omim/107600|NCIT:C98822|SNOMEDCT:35484002|ORPHA:1114
MONDO:0020121	muscular dystrophy	biolink:Disease	mondo	ICD10:G71.0|DOID:9884|SCTID:73297009|Orphanet:98473|UMLS:C0026850|ICD9:359.1|COHD:4247802|MedDRA:10028356|GARD:0007922|NCIT:C84910|MESH:D009136	ordo_group_of_disorders|gard_rare		http://purl.obolibrary.org/obo/MONDO_0020121	Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement.Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities.	DOID:9884|NCIT:C84910|SNOMEDCT:73297009|MESH:D009136|ORPHA:98473|UMLS:C0026850|MEDDRA:10028356
MONDO:0007142	Townes-Brocks syndrome	biolink:Disease	mondo	NCIT:C99085|ICD10:Q87.8|ICD9:759.89|GARD:0007784|UMLS:CN034849|SCTID:24750000|OMIMPS:107480|Orphanet:857|DOID:0050887|UMLS:C0265246|MESH:C536974	prototype_pattern|ordo_malformation_syndrome|gard_rare	sensorineural deafness with imperforate anus and hypoplastic thumbs|TBS|imperforate anus with hand, foot and ear anomalies|Townes syndrome|renal-Ear-anal-radial syndrome|TBS1|Townes-Brocks syndrome 1; TBS1|Townes-Brocks syndrome 1|Townes-Brocks syndrome; TBS|Townes-Brocks syndrome|rear syndrome|anus, imperforate, with hand, foot, and Ear anomalies|Townes-Brocks-branchiootorenal-like syndrome|renal-ear-anal-radial syndrome|deafness, sensorineural, with imperforate anus and hypoplastic thumbs|deafness, sensorineural, with imperforate anus and thumb anomalies|anus, imperforate, with hand, foot and ear anomalies	http://purl.obolibrary.org/obo/MONDO_0007142	Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.	http://identifiers.org/omim/107480|SNOMEDCT:24750000|ORPHA:857|NCIT:C99085|DOID:0050887|MESH:C536974|UMLS:CN034849|UMLS:C0265246
MONDO:0020120	skeletal muscle disease	biolink:Disease	mondo	Orphanet:98472|SCTID:75047002|MedDRA:10028641|UMLS:C1533847	ordo_group_of_disorders	skeletal muscle tissue disease or disorder|disorder of skeletal muscle tissue|disease of skeletal muscle tissue|disease or disorder of skeletal muscle tissue|disorder of skeletal muscle tissue|skeletal muscle tissue disease	http://purl.obolibrary.org/obo/MONDO_0020120	A disease involving the skeletal muscle tissue.	SNOMEDCT:75047002|UMLS:C1533847|MESH:D009135|ORPHA:98472|MEDDRA:10028641
MONDO:0007143	aortic arch anomaly-facial dysmorphism-intellectual disability syndrome	biolink:Disease	mondo	MESH:C537785|ICD10:Q87.8|Orphanet:1110|UMLS:C1862682|OMIM:107500|GARD:0000739	ordo_malformation_syndrome	familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism|aortic arch anomaly - peculiar facies - intellectual disability|aortic arch anomaly with peculiar facies and intellectual disability|aortic arch anomaly-peculiar facies-intellectual disability syndrome|aortic arch anomaly with peculiar facies and mental retardation	http://purl.obolibrary.org/obo/MONDO_0007143	Aortic arch anomaly-peculiar facies-intellectual disability syndrome is a developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968.	MESH:C537785|http://identifiers.org/omim/107500|UMLS:C1862682|ORPHA:1110
MONDO:0022780	cleft lip palate pituitary deficiency	biolink:Disease	mondo	GARD:0001382	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022780		
MONDO:0007140	antiphospholipid syndrome	biolink:Disease	mondo	NCIT:C61283|ICD10:D68.61|OMIM:107320|SCTID:26843008|DOID:2988|ICD9:279.49|UMLS:C0085278|MESH:D016736|GARD:0005824		antiphospholipid syndrome, familial|Hughes syndrome|antiphospholipid antibody syndrome|antiphospholipid syndrome|familial antiphospholipid syndrome|lupus anticoagulant, familial	http://purl.obolibrary.org/obo/MONDO_0007140	A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease.	NCIT:C61283|DOID:2988|MESH:D016736|UMLS:C0085278|SNOMEDCT:26843008|http://identifiers.org/omim/107320
RO:0002404	causally downstream of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002404	inverse of upstream of	
MONDO:0007141	antiviral state repressor, regulator of	biolink:Disease	mondo	OMIM:107440		antiviral STATE repressor, regulator OF; AVRR|AVRR|antiviral state repressor, regulator of	http://purl.obolibrary.org/obo/MONDO_0007141		http://identifiers.org/omim/107440
RO:0002405	immediately causally downstream of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002405		
MONDO:0020119	X-linked syndromic intellectual disability	biolink:Disease	mondo	Orphanet:98464|DOID:0060309|OMIMPS:309510	ordo_group_of_disorders	syndromic X-linked intellectual disability|syndromic X-linked mental retardation|mental retardation, X-linked syndromic|syndromic intellectual disability, X-linked|intellectual disability, X-linked syndromic	http://purl.obolibrary.org/obo/MONDO_0020119	A syndromic intellectual disability with an X-linked mode of inheritance.	DOID:0060309|ORPHA:98464
GO:0042446	hormone biosynthetic process	biolink:OntologyClass	mondo			hormone formation|hormone anabolism|hormone synthesis|hormone biosynthesis	http://purl.obolibrary.org/obo/GO_0042446	The chemical reactions and pathways resulting in the formation of any hormone, naturally occurring substances secreted by specialized cells that affects the metabolism or behavior of other cells possessing functional receptors for the hormone.	
HGNC:17228	RAD54B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17228		
MONDO:0020118	dense granule disease	biolink:Disease	mondo	ICD10:D69.1|Orphanet:98456|UMLS:CN207010	ordo_group_of_disorders	Delta granule disease	http://purl.obolibrary.org/obo/MONDO_0020118		ORPHA:98456|UMLS:CN207010
GO:0042445	hormone metabolic process	biolink:OntologyClass	mondo			hormone metabolism	http://purl.obolibrary.org/obo/GO_0042445	The chemical reactions and pathways involving any hormone, naturally occurring substances secreted by specialized cells that affects the metabolism or behavior of other cells possessing functional receptors for the hormone.	
MONDO:0020117	alpha granule disease	biolink:Disease	mondo	Orphanet:98455|UMLS:CN207009|ICD10:D69.1	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020117		ORPHA:98455|UMLS:CN207009
NCBITaxon:39030	Apodemus agrarius	organism taxon	mondo	GC_ID:1		Apodemus pratensis|Old World field mouse|striped field mouse|Eurasian field mouse	http://purl.obolibrary.org/obo/NCBITaxon_39030		
MONDO:0020116	obsolete rare blood coagulation disease	biolink:Disease	mondo	Orphanet:98429	ordo_group_of_disorders|obsoletion_candidate	rare blood coagulation disease|rare coagulation disorder	http://purl.obolibrary.org/obo/MONDO_0020116	Any of the forms of blood coagulation disease that have a rare incidence.	ORPHA:98429
MONDO:0019137	non-24-hour sleep-wake syndrome	biolink:Disease	mondo	ICD10:G47.24|GARD:0010949|Orphanet:73267|ICD10:G47.2|SCTID:230496009	ordo_disease	hypernychthemeral syndrome|circadian rhythm sleep disorder, free running type|non 24 hour sleep wake disorder|circadian rhythm sleep disorder, free-running type|non-24	http://purl.obolibrary.org/obo/MONDO_0019137	Non-24-hour sleep-wake disorder (non-24 disorder), also known as hypernychthemeral syndrome, is a circadian rhythm sleep disorder characterized by non-synchronization to a 24-hour day leading to insomnia and daytime sleepiness with sometimes severe associated manifestations.	SNOMEDCT:230496009|ORPHA:73267
MONDO:0022778	cleft lip palate mental retardation corneal opacity	biolink:Disease	mondo	GARD:0001380	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022778		
MONDO:0019136	Zygomycosis	biolink:Disease	mondo	MedDRA:10061418|GARD:0010224|ICD10:B46.9|ICD10:B46.8|COHD:432830|ICD10:B46|ICD10:B46.5|UMLS:C0043541|SCTID:59277005|ICD10:B46.4|ICD10:B46.3|DOID:8485|MESH:D009091|Orphanet:73263|SCTID:76627001|MedDRA:10028098|ICD10:B46.2|ICD10:B46.1|ICD10:B46.0|ICD9:117.7|NCIT:C77212|MESH:D020096|EFO:0007380	gard_rare|ordo_disease	Zygomycota infectious disease|mucormycosis	http://purl.obolibrary.org/obo/MONDO_0019136	Any infection due to a fungus of the Zygomycota phylum. The disease typically involves the rhino-facial-cranial area, lungs, gastrointestinal tract, skin, or less commonly other organ systems. The infecting fungi have a predilection for invading vessels of the arterial system, causing embolization and subsequent necrosis of surrounding tissue.	UMLS:C0026718|SNOMEDCT:59277005|MEDDRA:10028098|MEDDRA:10061418|SNOMEDCT:76627001|MESH:D020096|DOID:8485|NCIT:C77212|MESH:D009091|ORPHA:73263|UMLS:C0043541
MONDO:0022779	cleft lip palate oligodontia syndactyly pili torti	biolink:Disease	mondo	GARD:0001381	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022779		
MONDO:0019139	acquired hemophilia	biolink:Disease	mondo	GARD:0010350|UMLS:C1096116|MedDRA:10053745|Orphanet:73274|ICD10:D68.4|MESH:C536392|ICD10:D68.311	ordo_disease	hemophilia, acquired|acquired hemophilia|acquired haemophilia	http://purl.obolibrary.org/obo/MONDO_0019139	Acquired hemophilia A (AHA) is a rare,often severe, hematological autoimmune disorder characterized by spontaneous hemorrhages into the skin, muscles, soft tissues,or mucous membranes.	ORPHA:73274|MEDDRA:10053745|MESH:C536392|UMLS:C1096116
MONDO:0019138	bleeding diathesis due to a collagen receptor defect	biolink:Disease	mondo	ICD10:D69.8|Orphanet:73271	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019138		ORPHA:73271
MONDO:0019133	visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome	biolink:Disease	mondo	Orphanet:73246|ICD10:Q87.8|UMLS:CN205657	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0019133	Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome is characterised by facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome (CIPO).	UMLS:CN205657|ORPHA:73246
MONDO:0019132	spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome	biolink:Disease	mondo	Orphanet:73245|ICD10:G12.8|UMLS:CN205656	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0019132		UMLS:CN205656|ORPHA:73245
MONDO:0019135	obsolete paracoccidioidomycosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019135		
MONDO:0019134	central neurocytoma	biolink:Disease	mondo	GARD:0010641|NCIT:C3791|Orphanet:73256|MESH:D018306|EFO:1000856|ICDO:9506/1|UMLS:C0206719|DOID:14174|ONCOTREE:CNC	gard_rare|ordo_disease	central neurocytoma (WHO grade II)|Neurolipocytoma|CNC	http://purl.obolibrary.org/obo/MONDO_0019134	Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those of increased intracranial pressure: headache, nausea and vomiting, drowsiness, vision problems and mental changes. Total removal of the tumor is the therapy of choice. Post-operative prognosis is generally good.	UMLS:C0206719|MESH:D018306|NCIT:C3791|ORPHA:73256|DOID:14174
HP:0100699	Scarring	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:48677004|UMLS:C0008767|MSH:D002921		Scarring|Scar tissue	http://purl.obolibrary.org/obo/HP_0100699		
MONDO:0022770	circumscribed cutaneous aplasia of the vertex	biolink:Disease	mondo	GARD:0001365	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022770		
MONDO:0022771	circumscribed disseminated keratosis Jadassohn lew type	biolink:Disease	mondo	GARD:0001366	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022771		
MONDO:0022772	classic Kaposi sarcoma	biolink:Disease	mondo	UMLS:C0279084|NCIT:C9112		classic Kaposi's sarcoma|Kaposi sarcoma, classic|Kaposi sarcoma classical type|classic Kaposi sarcoma|Kaposi's sarcoma, classical type	http://purl.obolibrary.org/obo/MONDO_0022772	A vascular sarcoma that commonly occurs in the lower extremities. It occurs predominantly in elderly male patients of southern European ancestry. It is characterized by the presence of purple, red-blue, or dark brown macular lesions, plaques and nodules. This disease is usually slow growing, although it can spread to the lungs and the gastrointestinal tract. If necessary, cutaneous lesions can be treated with radiation.	UMLS:C0279084|NCIT:C9112
MONDO:0019120	pili bifurcati	biolink:Disease	mondo	Orphanet:720|ICD10:L67.8|SCTID:717360009	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019120	Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle.	ORPHA:720|SNOMEDCT:717360009
MONDO:0022775	cleft lip and palate malrotation cardiopathy	biolink:Disease	mondo	GARD:0001371	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022775		
MONDO:0022776	cleft lip and/or palate with mucous cysts of lower	biolink:Disease	mondo	GARD:0001372	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022776		
MONDO:0022777	cleft lip palate dysmorphism kumar type	biolink:Disease	mondo	GARD:0001375	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022777		
MONDO:0007159	arthrogryposis-like hand anomaly-sensorineural deafness syndrome	biolink:Disease	mondo	OMIM:108200|MESH:C535386|Orphanet:1144|GARD:0000784|UMLS:C1862471|SCTID:720515009|ICD10:Q68.8	ordo_malformation_syndrome	arthrogryposis-like hand anomaly and sensorineural deafness|distal arthrogryposis type 6|DA6|familial hand abnormality and sensori-neural deafness|arthrogryposis, distal, type 6; DA6|arthrogryposis and sensorineural deafness|arthrogryposis, distal, type 6	http://purl.obolibrary.org/obo/MONDO_0007159	Arthrogryposis-like hand anomaly-sensorineural deafness syndrome is characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.	MESH:C535386|UMLS:C1862471|http://identifiers.org/omim/108200|ORPHA:1144|SNOMEDCT:720515009
MONDO:0010789	MELAS syndrome	biolink:Disease	mondo	GARD:0007009|OMIM:540000|SCTID:39925003|ICD10:E88.41|MedDRA:10053872|UMLS:C0162671|ICD9:277.87|ICD10:G71.3|MESH:D017241|NCIT:C84885|DOID:3687|Orphanet:550	ordo_disease	mitochondrial encephalomyopathy, lactic acidosis and stroke|MELAS syndrome|mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes|mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes; MELAS|mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes|MELAS	http://purl.obolibrary.org/obo/MONDO_0010789	MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.	DOID:3687|MESH:D017241|http://identifiers.org/omim/540000|NCIT:C84885|MEDDRA:10053872|SNOMEDCT:39925003|UMLS:C0162671|ORPHA:550
MONDO:0020115	secondary polycythemia	biolink:Disease	mondo	UMLS:C1318533|MedDRA:10036062|COHD:435790|Orphanet:98428|ICD10:D75.1|NCIT:C27178	ordo_group_of_disorders	secondary erythrocytosis|secondary polycythemia	http://purl.obolibrary.org/obo/MONDO_0020115	Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia).	NCIT:C27178|UMLS:C1318533|MEDDRA:10036062|ORPHA:98428
MONDO:0010788	Leber hereditary optic neuropathy	biolink:Disease	mondo	NCIT:C84808|Orphanet:104|OMIM:535000|ICD10:H47.2|DOID:705|MESH:D029242|GARD:0006870|UMLS:C0917796|ICD10:H47.22|SCTID:58610003	ordo_disease	Leber’s disease|Leber's hereditary optic neuropathy|Leber's optic atrophy|Leber hereditary optic neuropathy|Leber Hereditary optic atrophy|LHON|optic atrophy, Leber type|Leber optic atrophy	http://purl.obolibrary.org/obo/MONDO_0010788	Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers.	MESH:D029242|SNOMEDCT:58610003|NCIT:C84808|http://identifiers.org/omim/535000|ORPHA:104|DOID:705|UMLS:C0917796
MONDO:0020114	obsolete polycythemia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0020114		
HGNC:29215	SHROOM4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29215		
HGNC:29216	ARHGAP31	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29216		
MONDO:0020113	red cell aplasia	biolink:Disease	mondo	Orphanet:98421|MedDRA:10038184|ICD10:D60.9|ICD10:D60.8|ICD10:D60.1|ICD10:D60.0	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020113		UMLS:C0281963|MEDDRA:10038184|ORPHA:98421
MONDO:0007157	arthrogryposis, distal, type 1A	biolink:Disease	mondo	DOID:0111597|OMIM:108120		AMC|arthrogryposis, distal, type 1A|arthrogryposis, distal, type 1A|arthrogryposis multiplex congenita|arthrogryposis, distal, type 1|arthrogryposis multiplex congenita, distal, type 1|DA1A	http://purl.obolibrary.org/obo/MONDO_0007157		DOID:0111597|http://identifiers.org/omim/108120
MONDO:0007158	arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	biolink:Disease	mondo	Orphanet:1154|OMIM:108145|UMLS:C1862472|GARD:0004047|SCTID:715217004|ICD10:Q68.8	ordo_malformation_syndrome|gard_rare	arthrogryposis, distal, type 5|distal arthrogryposis type 5|distal arthrogryposis with ophthalmoplegia|arthrogryposis with oculomotor limitation and electroretinal abnormalities|distal arthrogryposis type IIB|DA5|Arthogryposis with oculomotor limitation and electroretinal abnormalities|arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome|arthrogryposis, distal, type 2B|arthrogryposis ophthalmoplegia retinopathy|oculomelic amyoplasia|arthrogryposis, distal, type 5; DA5|arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0007158	Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.	SNOMEDCT:715217004|UMLS:C1862472|http://identifiers.org/omim/108145|ORPHA:1154
MONDO:0020112	vitamin B12- and folate-independent constitutional megaloblastic anemia	biolink:Disease	mondo	ICD10:D53.2|ICD10:D53.0|ICD10:D53.1|Orphanet:98415|ICD10:D53.9|ICD10:D53.8	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020112		ORPHA:98415
MONDO:0007155	arteritis, familial granulomatous, with juvenile polyarthritis	biolink:Disease	mondo	MESH:C566253|OMIM:108050|UMLS:C1862510		arteritis, familial granulomatous, with juvenile polyarthritis	http://purl.obolibrary.org/obo/MONDO_0007155		UMLS:C1862510|http://identifiers.org/omim/108050|MESH:C566253
MONDO:0020111	constitutional megaloblastic anemia due to folate metabolism disorder	biolink:Disease	mondo	ICD10:D52.8|Orphanet:98408|UMLS:CN227786	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020111		UMLS:CN227786|ORPHA:98408
MONDO:0007156	arthritis, sacroiliac	biolink:Disease	mondo	OMIM:108100|UMLS:C0748473|MESH:C563037		arthritis, sacroiliac	http://purl.obolibrary.org/obo/MONDO_0007156		MESH:C563037|http://identifiers.org/omim/108100|UMLS:C0748473
MONDO:0020110	pulmonary agenesis	biolink:Disease	mondo	SCTID:66489009|NCIT:C99028|ICD10:Q33.3|UMLS:C0265780|ICD9:748.5|GARD:0009119|MedDRA:10037322|Orphanet:984	ordo_morphological_anomaly	unilateral lobar pulmonary agenesis|unilateral lung agenesis|congenital lung agenesis|congenital absence of lung	http://purl.obolibrary.org/obo/MONDO_0020110	An uncommon congenital abnormality characterized by either lethal complete absence of the lungs or varying degrees of underdevelopment of the lung parenchyma. It may be associated with other congenital abnormalities.	MEDDRA:10037322|SNOMEDCT:66489009|UMLS:C0265780|NCIT:C99028|ORPHA:984
MONDO:0007153	arteries, anomalies of	biolink:Disease	mondo	OMIM:108000		arteries, anomalies of	http://purl.obolibrary.org/obo/MONDO_0007153		http://identifiers.org/omim/108000
MONDO:0007154	arteriovenous malformations of the brain	biolink:Disease	mondo	Orphanet:46724|NCIT:C2936|SCTID:234142008|COHD:4121803|UMLS:C0007772|GARD:0003020|ICD10:Q28.2|DOID:0060688|MESH:D002538|OMIM:108010	ordo_morphological_anomaly	cerebral arteriovenous malformation|intracranial hemorrhage in brain arteriovenous malformations, susceptibility to|cerebral arteriovenous malformations|intracranial arteriovenous malformation|Bavm|arteriovenous malformations of the brain|intracranial AVM	http://purl.obolibrary.org/obo/MONDO_0007154	Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures.	UMLS:C0007772|SNOMEDCT:234142008|DOID:0060688|ORPHA:46724|MESH:D002538|http://identifiers.org/omim/108010|NCIT:C2936
MONDO:0007151	arms, malformation of	biolink:Disease	mondo	OMIM:107900|MESH:C566258		arms, malformation of	http://purl.obolibrary.org/obo/MONDO_0007151		http://identifiers.org/omim/107900|MESH:C566258
MONDO:0010792	lethal infantile mitochondrial myopathy	biolink:Disease	mondo	UMLS:C1838876|OMIM:551000|MESH:C564017|ICD10:G71.3|Orphanet:254857|SCTID:766251006	ordo_disease	mitochondrial myopathy, lethal, infantile|lethal infantile mitochondrial disease|LIMM|mitochondrial myopathy, lethal, infantile; LIMM|LIMD	http://purl.obolibrary.org/obo/MONDO_0010792	Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.	http://identifiers.org/omim/551000|SNOMEDCT:766251006|MESH:C564017|ORPHA:254857|UMLS:C1838876
MONDO:0007152	arrhythmogenic right ventricular dysplasia 1	biolink:Disease	mondo	UMLS:C1862511|ICD10:I42.8|ICD10:Q24.8|OMIM:107970|DOID:0110070		TGFB3 arrhythmogenic right ventricular cardiomyopathy|arrhythmogenic right ventricular cardiomyopathy 1|Uhl anomaly|arrhythmogenic right ventricular dysplasia, familial, type 1|ARVD1|arrhythmogenic right ventricular cardiomyopathy caused by mutation in TGFB3|cardiomyopathy, right ventricular dilated|ARVC1|arrhythmogenic right ventricular dysplasia type 1|familial arrhythmogenic right ventricular dysplasia 1|arrhythmogenic right ventricular dysplasia, familial, 1; ARVD1|arrhythmogenic right ventricular dysplasia, familial, 1	http://purl.obolibrary.org/obo/MONDO_0007152	Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TGFB3 gene.	http://identifiers.org/omim/107970|UMLS:C1862511|DOID:0110070
MONDO:0010791	myoglobinuria, recurrent	biolink:Disease	mondo	OMIM:550500|MESH:C564018|GARD:0003879	gard_rare	myoglobinuria, recurrent|myoglobinuria recurrent	http://purl.obolibrary.org/obo/MONDO_0010791	An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection (febrile illness). Hypertonia, muscle stiffness and muscle pain, impaired kidney function and elevated levels of serum creatine kinase are common clinical features. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. Recently, mutations in the LPIN1 gene (chromosome 2p21) have been reported to have a causative role in three patients with recurrent episodes of myoglobinuria, originating from consanguineous families. The disorder may occur sporadically, or be inherited in either a recessive or dominant manner.	http://identifiers.org/omim/550500|MESH:C564018
MONDO:0010794	NARP syndrome	biolink:Disease	mondo	OMIM:551500|MedDRA:10062940|MESH:C537396|UMLS:C1328349|GARD:0000262|ICD10:G31.8|DOID:0111273|Orphanet:644	ordo_disease	NARP syndrome|NARP|neuropathy, ataxia, and retinitis pigmentosa|neuropathy-ataxia-retinitis pigmentosa syndrome|neuropathy ataxia retinitis pigmentosa syndrome|neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome	http://purl.obolibrary.org/obo/MONDO_0010794	Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.	UMLS:C1328349|http://identifiers.org/omim/551500|MESH:C537396|DOID:0111273|ORPHA:644|MEDDRA:10062940
MONDO:0020109	constitutional megaloblastic anemia due to vitamin B12 metabolism disorder	biolink:Disease	mondo	ICD10:D51.9|UMLS:CN227785|ICD10:D51.8|ICD10:D51.2|Orphanet:98396|ICD10:D51.3|ICD10:D51.1|ICD10:D51.0	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020109		ORPHA:98396|UMLS:CN227785
MONDO:0007150	arcus senilis	biolink:Disease	mondo	DOID:11342|MedDRA:10003082|UMLS:C0003742|ICD10:H18.41|SCTID:231924000|MESH:D001112|OMIM:107800|EFO:1000818		corneal arcus|arcus corneae|arcus senilis|arcus of cornea	http://purl.obolibrary.org/obo/MONDO_0007150	A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera.	SNOMEDCT:231924000|DOID:11342|UMLS:C0003742|MESH:D001112|http://identifiers.org/omim/107800
MONDO:0010793	nephropathy, chronic tubulointerstitial	biolink:Disease	mondo	OMIM:551200|MESH:C564016|UMLS:C1838875		nephropathy, chronic tubulointerstitial	http://purl.obolibrary.org/obo/MONDO_0010793		http://identifiers.org/omim/551200|MESH:C564016|UMLS:C1838875
MONDO:0020108	autoimmune hemolytic anemia	biolink:Disease	mondo	MedDRA:10002046|ICD9:283.0|COHD:441269|SCTID:413603009|EFO:1001264|ICD10:D59.1|NCIT:C34378|ICD10:D59.0|OMIM:205700|Orphanet:98375|DOID:718|GARD:0005870|UMLS:C0002880|MESH:D000744|CSP:0427-1178	ordo_group_of_disorders	autoimmune haemolytic anaemia|anemia, autoimmune hemolytic|immuno-hemolytic anemia|AIHA|idiopathic autoimmune hemolytic anemia|acquired autoimmune hemolytic anemia|autoimmune hemolytic anemia|anemia hemolytic autoimmune|AHA|familial auto-immune hemolytic anemia (subtype)	http://purl.obolibrary.org/obo/MONDO_0020108	Autoimmune hemolytic anemia (AIHA) is an autoimmune disorder in which various types of auto-antibodies are directed against red blood cells causing their survival to be shortened and resulting in hemolytic anemia.	NCIT:C34378|MESH:D000744|DOID:718|MEDDRA:10002046|SNOMEDCT:413603009|http://identifiers.org/omim/205700|UMLS:C0002880|ORPHA:98375
MONDO:0010796	Parkinson disease, mitochondrial	biolink:Disease	mondo	UMLS:C1838867|OMIM:556500|MESH:C564015		Parkinson disease, mitochondrial	http://purl.obolibrary.org/obo/MONDO_0010796		MESH:C564015|http://identifiers.org/omim/556500|UMLS:C1838867
MONDO:0020107	hemolytic anemia due to an erythrocyte nucleotide metabolism disorder	biolink:Disease	mondo	UMLS:CN227784|Orphanet:98374|ICD10:D55.3	ordo_group_of_disorders	hemolytic anemia due to an erythroenzymopathy	http://purl.obolibrary.org/obo/MONDO_0020107		UMLS:CN227784|ORPHA:98374
MONDO:0019129	global developmental delay-osteopenia-ectodermal defect syndrome	biolink:Disease	mondo	Orphanet:73223|ICD10:Q87.8|UMLS:CN227576|SCTID:717813005	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0019129	This syndrome is characterised by the association of global developmental delay, osteopenia and skin anomalies.	UMLS:CN227576|ORPHA:73223|SNOMEDCT:717813005
MONDO:0010795	oncocytic neoplasm	biolink:Disease	mondo	NCIT:C7072|OMIM:553000|UMLS:C1378050		oncocytoma|oncocytic tumor|oncocytic neoplasm|oncocytoma, benign	http://purl.obolibrary.org/obo/MONDO_0010795	A usually benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic neoplasms of the thyroid gland, and kidney. (NCI05)	http://identifiers.org/omim/553000|NCIT:C7072|UMLS:C1378050
MONDO:0010798	proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome	biolink:Disease	mondo	Orphanet:3390|OMIM:560000|GARD:0004532|ICD10:Q87.8|UMLS:C3151959|MESH:C564014	ordo_disease	renal tubulopathy, diabetes mellitus, and cerebellar ataxia|renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA|proximal tubulopathy, diabetes mellitus and cerebellar ataxia	http://purl.obolibrary.org/obo/MONDO_0010798	Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterised by onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus.	ORPHA:3390|MESH:C564014|http://identifiers.org/omim/560000|UMLS:C3151959
MONDO:0020106	hemolytic anemia due to a disorder of glycolytic enzymes	biolink:Disease	mondo	UMLS:CN227783|ICD10:D55.2|Orphanet:98372	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020106		UMLS:CN227783|ORPHA:98372
MONDO:0010797	Pearson syndrome	biolink:Disease	mondo	MedDRA:10062941|UMLS:C0342784|ICD10:D64.0|SCTID:237985009|GARD:0007343|NCIT:C115326|ICD9:277.87|OMIM:557000|DOID:0060067|Orphanet:699	gard_rare|ordo_disease	Pearson's marrow/pancreas syndrome|Pearson's syndrome|Pearson marrow-pancreas syndrome|sideroblastic Anemia with marrow cell vacuolization and exocrine pancreatic dysfunction|sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly)	http://purl.obolibrary.org/obo/MONDO_0010797	Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction.	MEDDRA:10062941|SNOMEDCT:237985009|http://identifiers.org/omim/557000|ORPHA:699|NCIT:C115326|UMLS:C0342784|UMLS:C0342773|DOID:0060067
MONDO:0020105	hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies	biolink:Disease	mondo	ICD10:D55.1|Orphanet:98370	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020105		ORPHA:98370
MONDO:0019126	intractable diarrhea of infancy	biolink:Disease	mondo	Orphanet:73014	ordo_group_of_disorders	IDI	http://purl.obolibrary.org/obo/MONDO_0019126	Intractable diarrhoea of infancy (IDI) is a heterogeneous syndrome that includes several diseases with different aetiologies. Provisional classification of IDI, according to villous atrophy and based on immunohistological criteria, distinguishes two clearly different groups of IDI: 1) Immune-mediated: characterised by a mononuclear cell infiltration of the lamina propria and considered as being related to T cell activation. 2) The second histological pattern includes early onset severe intractable diarrhoea histologically characterised by villous atrophy with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium.	ORPHA:73014
HGNC:19899	ZFAT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19899		
MONDO:0019125	relapsing polychondritis	biolink:Disease	mondo	MESH:D011081|MedDRA:10038304|GARD:0007417|UMLS:C0032453|ICD9:733.99|DOID:2556|ICD10:M94.1|SCTID:72275000|NCIT:C157268|Orphanet:728|EFO:1001148	gard_rare|ordo_disease	chronic atrophic polychondritis|chondromalacia, systemic|recurrent polychondritis	http://purl.obolibrary.org/obo/MONDO_0019125	Relapsing polychondritis (RP) is a rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement.	NCIT:C157268|MESH:D011081|ORPHA:728|DOID:2556|SNOMEDCT:72275000|MEDDRA:10038304|UMLS:C0032453
MONDO:0022768	chronic polyradiculoneuritis	biolink:Disease	mondo	GARD:0001355	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022768		
MONDO:0019128	mullerian aplasia	biolink:Disease	mondo	Orphanet:73217|SCTID:253828000|MESH:C537371	ordo_group_of_disorders	Mullerian duct failure|aplasia of the Mullerian ducts|Müllerian duct failure|Müllerian aplasia|aplasia of the Müllerian ducts	http://purl.obolibrary.org/obo/MONDO_0019128		ORPHA:73217|MESH:C537371|SNOMEDCT:253828000|UMLS:C0431637
MONDO:0022769	ciliary dyskinesia-bronchiectasis	biolink:Disease	mondo	GARD:0001362	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022769		
MONDO:0019127	polymyositis	biolink:Disease	mondo	MedDRA:10036102|ICD10:M33.2|Orphanet:732|UMLS:C0085655|SCTID:31384009|GARD:0007425|ICD9:710.4|EFO:0003063|COHD:80800|Wikipedia:Polymyositis|MESH:D017285|NCIT:C26925	ordo_disease	PM|polymyositis	http://purl.obolibrary.org/obo/MONDO_0019127	Polymyositis (PM) is a rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes.	UMLS:C0085655|SNOMEDCT:31384009|ORPHA:732|MESH:D017285|NCIT:C26925|MEDDRA:10036102
MONDO:0019122	idiopathic acute eosinophilic pneumonia	biolink:Disease	mondo	UMLS:C4518469|Orphanet:724|GARD:0000519|DOID:9503|ICD10:J82|SCTID:64936001|UMLS:CN227574|NCIT:C35301|GARD:0000107|UMLS:C0242459	gard_rare|ordo_disease	Loeffler syndrome|Löffler syndrome|Loeffler's pneumonia|Loffler syndrome|pulmonary infiltrates with eosinophilia|IAEP|Loffler's syndrome	http://purl.obolibrary.org/obo/MONDO_0019122	Idiopathic acute eosinophilic pneumonia (IAEP) is an eosinophilic pneumonia of undetermined etiology that is characterized by acute febrile hypoxic respiratory failure associated with diffuse radiographic infiltrates and pulmonary eosinophilia, but without concurring allergy or infection.	ORPHA:724|DOID:9503|UMLS:C4518469|SNOMEDCT:64936001|UMLS:C0242459|UMLS:CN227574|NCIT:C35301
MONDO:0019121	pneumocystosis	biolink:Disease	mondo	EFO:0007448|Orphanet:723|ICD10:J17.3*|ICD9:136.3|GARD:0004386|SCTID:415125002|UMLS:C1535939|NCIT:C3334|MESH:D011020|ICD10:B59+|ICD10:B59|DOID:11339|COHD:438350	gard_rare|ordo_disease	PCP|pulmonary pneumocystosis|Pneumocystis carinii pneumonia|Pneumocystis jirovecii pneumonia|pneumocystosis|Pneumocystis pneumonia|PJP|Pneumocystis|pneumocystosis pneumonia	http://purl.obolibrary.org/obo/MONDO_0019121	Human pneumocystosis is caused by an infectious agent, which (after recent nomenclature and taxonomy revisions) is now classed as the fungus Pneumocystis jiroveci. The prevalence is unknown. Pneumocystis jiroveci is an opportunistic infectious agent, developing in immunosuppressed patients. It is an air-borne infection, localised to the lungs. However, extrapulmonary involvement is seen in AIDS patients. The disease manifests progressively with coughing, respiratory problems (dyspnea) and fever, followed by acute respiratory insufficiency and death within a few weeks in untreated cases. The most reliable diagnostic method is bronchoalveolar lavage. The treatment of choice is cotrimoxazole.	MESH:D011020|ORPHA:723|DOID:11339|UMLS:C1535939|NCIT:C3334|SNOMEDCT:415125002
MONDO:0010790	MERRF syndrome	biolink:Disease	mondo	DOID:310|Orphanet:551|UMLS:C0162672|GARD:0007144|ICD9:277.87|SCTID:68448003|ICD10:G71.3|ICD10:E88.42|NCIT:C84889|OMIM:545000|MESH:D017243|MedDRA:10069825	ordo_disease	myoencephalopathy ragged-red fiber disease|myoclonic epilepsy associated with ragged-RED fibers|myoclonic epilepsy with ragged red fibers|myoclonic epilepsy associated with ragged-RED fibers; MERRF|Fukuhara syndrome|myoclonic epilepsy associated with ragged red fibers|MERRF syndrome|myoclonic epilepsy - ragged red fibers|MERRF|myoclonus with epilepsy and with ragged Red fibers (MERRF syndrome)|myoclonus with epilepsy and with ragged Red fibers|myoclonus epilepsy associated with ragged-red fibres|myoclonus epilepsy and ragged red fibers	http://purl.obolibrary.org/obo/MONDO_0010790	A condition that can be caused by mutation(s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy.	NCIT:C84889|http://identifiers.org/omim/545000|DOID:310|SNOMEDCT:68448003|UMLS:C0162672|ORPHA:551|MESH:D017243|MEDDRA:10069825
MONDO:0019124	microscopic polyangiitis	biolink:Disease	mondo	NCIT:C70549|EFO:1000784|MESH:D055953|GARD:0003652|SCTID:239928004|Orphanet:727|UMLS:C2347126|ICD10:M31.7|MedDRA:10063344	ordo_disease|gard_rare	MPA|microscopic polyarteritis|Micropolyangiitis	http://purl.obolibrary.org/obo/MONDO_0019124	Microscopic polyangiitis (MPA) is an inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs.	UMLS:C0343192|MESH:D055953|MEDDRA:10063344|ORPHA:727|SNOMEDCT:239928004|UMLS:C2347126|NCIT:C70549
MONDO:0019123	continuous spikes and waves during sleep	biolink:Disease	mondo	Orphanet:725|UMLS:CN205644|UMLS:C3806403|UMLS:CN181337|ICD10:F80.3	ordo_disease	epileptic encephalopathy with continuous spike-and-wave during slow sleep|CSWS|continuous spikes and waves during slow-wave sleep|CSWSS syndrome	http://purl.obolibrary.org/obo/MONDO_0019123	Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development.	ORPHA:725|UMLS:CN205644|UMLS:C3806403|UMLS:CN181337
HGNC:17233	ELMO2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17233		
MONDO:0022760	chromosome 22q deletion	biolink:Disease	mondo	GARD:0008668	gard_rare	deletion 22q|22q deletion|monosomy 22q|partial monosomy 22q|22q monosomy	http://purl.obolibrary.org/obo/MONDO_0022760		
NCBITaxon:40005	Yellow fever virus group	organism taxon	mondo	GC_ID:1		Yellow fever viruses	http://purl.obolibrary.org/obo/NCBITaxon_40005		
MONDO:0022761	chromosome 3 duplication syndrome	biolink:Disease	mondo	MESH:C536803|UMLS:C2931333			http://purl.obolibrary.org/obo/MONDO_0022761		UMLS:C2931333|MESH:C536803
MONDO:0022762	chromosome 4 short arm deletion	biolink:Disease	mondo	ICD10:Q93.3|MESH:C537637|GARD:0006090		4p deletion|partial monosomy 4p|4p monosomy|monosomy 4p|deletion 4p|chromosome 4p deletion	http://purl.obolibrary.org/obo/MONDO_0022762		MESH:C537637
MONDO:0022765	chronic demyelinizing neuropathy with IgM monoclonal	biolink:Disease	mondo	GARD:0001352	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022765		
MONDO:0007128	annular erythema	biolink:Disease	mondo	UMLS:C0234906|OMIM:106500|MESH:C562461|SCTID:200920000		annular erythema	http://purl.obolibrary.org/obo/MONDO_0007128		SNOMEDCT:200920000|http://identifiers.org/omim/106500|UMLS:C0234906|MESH:C562461
MONDO:0007129	tooth agenesis, selective, 1	biolink:Disease	mondo	OMIM:106600		tooth agenesis, selective, type 1|tooth agenesis, selective, 1; STHAG1|second premolars and third molars, absence of|hypodontia/oligodontia 1|STHAG1|MSX1 tooth agenesis|tooth agenesis, selective, with orofacial cleft|tooth agenesis, selective, 1|tooth agenesis caused by mutation in MSX1|tooth agenesis, familial|hypodontia/oligodontia with orofacial cleft	http://purl.obolibrary.org/obo/MONDO_0007129	Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene.	http://identifiers.org/omim/106600
MONDO:0007126	spondyloarthropathy, susceptibility to, 1	biolink:Disease	mondo	OMIM:106300|DOID:0080603	predisposition	Marie-Strumpell spondylitis|Bechterew syndrome|spondyloarthropathy, susceptibility to, type 1|spondyloarthropathy, susceptibility to, 1; SPDA1|SPDA1|ankylosing spondylitis, susceptibility to|HLA-B spondyloarthropathy, susceptibility to|spondyloarthropathy, susceptibility to caused by mutation in HLA-B|susceptibility to spondyloarthropathy 1|spondyloarthropathy, susceptibility to, 1	http://purl.obolibrary.org/obo/MONDO_0007126	Any spondyloarthropathy, susceptibility to in which the cause of the disease is a mutation in the HLA-B gene.	DOID:0080603|http://identifiers.org/omim/106300
MONDO:0020104	rare constitutional hemolytic anemia due to an enzyme disorder	biolink:Disease	mondo	Orphanet:98369|ICD10:D55.9|ICD10:D55.8|UMLS:CN227782|ICD10:D55.3|ICD10:D55.2|ICD10:D55.1|ICD10:D55.0	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020104		UMLS:CN227782|ORPHA:98369
MONDO:0010778	cyclic vomiting syndrome	biolink:Disease	mondo	GARD:0006230|OMIM:500007		CVS|Cvs-plus|cyclic vomiting syndrome|cyclic vomiting syndrome with neuromuscular disease|cyclic vomiting syndrome; CVS|cyclic vomiting syndrome-plus	http://purl.obolibrary.org/obo/MONDO_0010778	A rare abnormality of the neuroendocrine system that is characterized by episodic nausea and vomiting.	http://identifiers.org/omim/500007
MONDO:0009789	nonarteritic anterior ischemic optic neuropathy, susceptibility to	biolink:Disease	mondo	OMIM:258660	predisposition	Naion, susceptibility to|nonarteritic anterior ischemic optic neuropathy, susceptibility to|optic neuropathy, anterior ischemic, susceptibility to|susceptibility to nonarteritic anterior ischemic optic neuropathy	http://purl.obolibrary.org/obo/MONDO_0009789		http://identifiers.org/omim/258660
MONDO:0007127	diffuse idiopathic skeletal hyperostosis	biolink:Disease	mondo	NCIT:C84671|OMIM:106400|UMLS:C0020498|SCTID:31487001|ICD10:M48.1|Orphanet:2206|GARD:0000842|DOID:6652|ICD9:733.99|EFO:0007236|COHD:77961|ICD9:721.6|MESH:D004057	ordo_malformation_syndrome	disseminated idiopathic skeletal hyperostosis|ankylosing vertebral hyperostosis|diffuse idiopathic skeletal hyperostosis|Forestier disease|ankylosing vertebral hyperostosis with tylosis|dish|Forestier's disease	http://purl.obolibrary.org/obo/MONDO_0007127	This syndrome is characterized by the association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms.	ORPHA:2206|DOID:6652|SNOMEDCT:31487001|http://identifiers.org/omim/106400|MESH:D004057|NCIT:C84671|UMLS:C0020498
MONDO:0010777	cardiomyopathy, infantile hypertrophic	biolink:Disease	mondo	DOID:0111753|UMLS:C2748884|OMIM:500006			http://purl.obolibrary.org/obo/MONDO_0010777		DOID:0111753|UMLS:C2748884|http://identifiers.org/omim/500006
MONDO:0009788	optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive	biolink:Disease	mondo	OMIM:258650		optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009788		http://identifiers.org/omim/258650
MONDO:0020103	constitutional hemolytic anemia due to acanthocytosis	biolink:Disease	mondo	Orphanet:98366|ICD10:E78.6	ordo_group_of_disorders	constitutional hemolytic anemia due to acanthocytic disorder	http://purl.obolibrary.org/obo/MONDO_0020103		ORPHA:98366
MONDO:0007124	ankyloblepharon-ectodermal defects-cleft lip/palate syndrome	biolink:Disease	mondo	MESH:C535847|SCTID:55821006|Orphanet:1071|OMIM:106260|GARD:0006571|DOID:0090119|ICD10:Q82.4|GARD:0004805	ordo_malformation_syndrome|gard_rare	Rapp-Hodgkins syndrome|Aec syndrome|ankyloblepharon-ectodermal defects-cleft lip and palate syndrome|AEC syndrome|ankyloblepharon ectodermal defects cleft lip/palate|Seres-Santamaria Arimany Muniz syndrome|cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects|ankyloblepharon-ectodermal defects-cleft LIP/palate|hay-Wells syndrome	http://purl.obolibrary.org/obo/MONDO_0007124	Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.	ORPHA:1071|http://identifiers.org/omim/106260|DOID:0090119|MESH:C535847|SNOMEDCT:55821006|UMLS:C1785148
MONDO:0009787	3-methylglutaconic aciduria type 3	biolink:Disease	mondo	OMIM:258501|MESH:C535311|UMLS:C0574084|DOID:0110004|ICD10:E71.1|Orphanet:67047|SCTID:297232009|GARD:0005663	ordo_disease	optic atrophy, infantile, with chorea and spastic paraplegia|MGA3|autosomal recessive optic atrophy plus syndrome|3-methylglutaconic aciduria caused by mutation in OPA3|3-methylglutaconic aciduria, type III|optic atrophy 3, autosomal recessive|3-methylglutaconic aciduria, type 3|Iraqi-Jewish optic atrophy plus|OPA3, autosomal recessive|MGA, type 3|Costeff syndrome|autosomal recessive optic atrophy type 3|3-methylglutaconic aciduria type III|OPA3 3-methylglutaconic aciduria|MGA type III|Iraqi-Jewish 'optic atrophy plus'|optic atrophy plus syndrome|3-methylglutaconic aciduria, type III; MGCA3|Costeff optic atrophy syndrome|3-alpha methylglutaconic aciduria type III|Iraqi Jewish optic atrophy plus|MGCA3|optic atrophy infantile with chorea and spastic paraplegia|OPA3 defect|infantile optic atrophy with chorea and spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0009787	3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.	http://identifiers.org/omim/258501|ORPHA:67047|DOID:0110004|MESH:C535311|SNOMEDCT:297232009|UMLS:C0574084
MONDO:0020102	hereditary stomatocytosis	biolink:Disease	mondo	SCTID:14087004|Orphanet:98365|ICD10:D58.8|ICD9:282.8|UMLS:C1262483	ordo_group_of_disorders	hereditary stomatocytic disease	http://purl.obolibrary.org/obo/MONDO_0020102		SNOMEDCT:14087004|UMLS:C1262483|ORPHA:98365
MONDO:0020101	constitutional hemolytic anemia due to membrane defect	biolink:Disease	mondo	SCTID:111575000|NCIT:C101218|Orphanet:98364|UMLS:CN227780	ordo_group_of_disorders	hemolytic anemia due to membrane defect|anemia due to membrane defect|rare constitutional hemolytic anemia due to a red cell membrane anomaly|hemolytic anemia due to erythrocyte membrane defect	http://purl.obolibrary.org/obo/MONDO_0020101	A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis and hereditary elliptocytosis.	NCIT:C101218|UMLS:CN227780|ORPHA:98364|SNOMEDCT:111575000
MONDO:0009786	optic atrophy 6	biolink:Disease	mondo	OMIM:258500|GARD:0010200|Orphanet:99012|MESH:C537127|DOID:0111435		optic atrophy 6|optic atrophy, congenital or early infantile, autosomal recessive|OPA6|optic atrophy 6; OPA6	http://purl.obolibrary.org/obo/MONDO_0009786		http://identifiers.org/omim/258500|MESH:C537127|DOID:0111435|ORPHA:99012
MONDO:0007125	ankyloglossia	biolink:Disease	mondo	SCTID:67787004|OMIM:106280|ICD10:Q38.1|MESH:C562396|NCIT:C124538|ICD9:750.0|DOID:0060604		tongue-tie|FUSED to floor of mouth|ankyloglossia|'tongue-Tie'	http://purl.obolibrary.org/obo/MONDO_0007125	A developmental abnormality in which the bottom of the tongue is attached to the floor of the mouth.	http://identifiers.org/omim/106280|DOID:0060604|MESH:C562396|SNOMEDCT:67787004|NCIT:C124538
MONDO:0010779	mitochondrial non-syndromic sensorineural deafness	biolink:Disease	mondo	GARD:0001709|OMIM:500008|DOID:0111751|Orphanet:90641|ICD10:H90.3	ordo_etiological_subtype|gard_rare	mitochondrial non-syndromic neurosensory deafness|deafness, nonsyndromic sensorineural, mitochondrial|isolated mitochondrial neurosensory deafness|deafness, isolated, due to mitochondrial transmission|isolated mitochondrial sensorineural deafness	http://purl.obolibrary.org/obo/MONDO_0010779		DOID:0111751|http://identifiers.org/omim/500008|ORPHA:90641
MONDO:0009785	opsismodysplasia	biolink:Disease	mondo	OMIM:258480|MESH:C537122|ICD10:Q78.8|GARD:0004098|UMLS:C0432219|SCTID:254068007|Orphanet:2746	ordo_disease|gard_rare	opsismodysplasia|OPSISMODYSPLASIA; OPSMD|OPSMD	http://purl.obolibrary.org/obo/MONDO_0009785	Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.	http://identifiers.org/omim/258480|MESH:C537122|ORPHA:2746|UMLS:C0432219|SNOMEDCT:254068007
MONDO:0007122	anisocoria (disease)	biolink:Disease	mondo	MESH:D015875|ICD9:379.41|SCTID:13045009|HP:0009916|OMIM:106240|COHD:434374		anisocoria	http://purl.obolibrary.org/obo/MONDO_0007122	Unequal pupil size, which may represent a benign physiologic variant or a manifestation of disease. Pathologic anisocoria reflects an abnormality in the musculature of the iris (iris diseases) or in the parasympathetic or sympathetic pathways that innervate the pupil. Physiologic anisocoria refers to an asymmetry of pupil diameter, usually less than 2mm, that is not associated with disease.	MESH:D015875|SNOMEDCT:13045009|http://identifiers.org/omim/106240
MONDO:0020100	obsolete rare hemolytic anemia	biolink:Disease	mondo	Orphanet:98363	ordo_group_of_disorders|obsoletion_candidate	rare hemolytic anemia	http://purl.obolibrary.org/obo/MONDO_0020100	Rare hemolytic anemia.	ORPHA:98363
MONDO:0007123	ankyloblepharon filiforme adnatum-cleft palate syndrome	biolink:Disease	mondo	SCTID:400952003|GARD:0000696|OMIM:106250|MESH:C536373|ICD10:Q87.0|UMLS:C1302999|Orphanet:1072	ordo_malformation_syndrome	ankyloblepharon filiforme adnatum and cleft palate|ankyloblepharon filiforme congenitum|ankyloblepharon filiforme adnatum|ankyloblepharon filiforme adnatum and cleft palate; AFA|AFA|ankyloblepharon filiforme adnatum cleft palate|congenital filiform fusion of the eyelids with cleft palate and/or cleft lip	http://purl.obolibrary.org/obo/MONDO_0007123		ORPHA:1072|MESH:C536373|http://identifiers.org/omim/106250|UMLS:C1302999|SNOMEDCT:400952003
MONDO:0009784	ophthalmoplegic neuromuscular disorder with abnormal mitochondria	biolink:Disease	mondo	UMLS:C1850302|OMIM:258470|MESH:C564925		ophthalmoplegic neuromuscular disorder with abnormal mitochondria	http://purl.obolibrary.org/obo/MONDO_0009784		MESH:C564925|UMLS:C1850302|http://identifiers.org/omim/258470
MONDO:0007120	aniridia-absent patella syndrome	biolink:Disease	mondo	OMIM:106220|GARD:0000685|Orphanet:1069|ICD10:Q87.8|MESH:C566281|UMLS:C1862868	ordo_malformation_syndrome|gard_rare	familial syndrome of aniridia and absence of the patella|aniridia absent patella|aniridia and absent patella	http://purl.obolibrary.org/obo/MONDO_0007120	Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.	UMLS:C1862868|MESH:C566281|http://identifiers.org/omim/106220|ORPHA:1069
MONDO:0009783	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	biolink:Disease	mondo	UMLS:C4225153|DOID:0111522|OMIM:258450|GARD:0001191		progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; PEOB1|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 1|autosomal recessive progressive external ophthalmoplegia|cerebellar ataxia infantile with progressive external ophthalmoplegia|progressive external ophthalmoplegia with cerebellar ataxia infantile|POLG autosomal recessive progressive external ophthalmoplegia|PEOB1|arPEO|progressive external ophthalmoplegia, autosomal recessive 1|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|autosomal recessive progressive external ophthalmoplegia caused by mutation in POLG	http://purl.obolibrary.org/obo/MONDO_0009783	Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene.	UMLS:C4225153|DOID:0111522|http://identifiers.org/omim/258450
MONDO:0009782	ophthalmoplegia totalis with ptosis and miosis	biolink:Disease	mondo	OMIM:258400|MESH:C564927|UMLS:C1850314		ophthalmoplegia totalis with ptosis and miosis	http://purl.obolibrary.org/obo/MONDO_0009782		MESH:C564927|UMLS:C1850314|http://identifiers.org/omim/258400
MONDO:0007121	aniridia, microcornea, and spontaneously Reabsorbed cataract	biolink:Disease	mondo	OMIM:106230|MESH:C566280|UMLS:C1862867		aniridia, microcornea, and spontaneously Reabsorbed cataract	http://purl.obolibrary.org/obo/MONDO_0007121		UMLS:C1862867|MESH:C566280|http://identifiers.org/omim/106230
MONDO:0009781	Onychotrichodysplasia and neutropenia	biolink:Disease	mondo	MESH:C537752|OMIM:258360|GARD:0010161|Orphanet:2739|UMLS:C1850316	gard_rare	onycho-tricho-dysplasia-neutropenia syndrome|Onychotrichodysplasia and neutropenia	http://purl.obolibrary.org/obo/MONDO_0009781		MESH:C537752|UMLS:C1850316|http://identifiers.org/omim/258360|ORPHA:2739
MONDO:0010781	ataxia and polyneuropathy, adult-onset	biolink:Disease	mondo	DOID:0111750|UMLS:C1838916|OMIM:500010|MESH:C564020			http://purl.obolibrary.org/obo/MONDO_0010781		MESH:C564020|DOID:0111750|UMLS:C1838916|http://identifiers.org/omim/500010
MONDO:0009780	lethal omphalocele-cleft palate syndrome	biolink:Disease	mondo	Orphanet:2736|GARD:0004079|SCTID:719408007|ICD10:Q87.8|MESH:C537747|OMIM:258320|UMLS:C1850317	gard_rare|ordo_malformation_syndrome	cleft palate-omphalocele syndrome, lethal|omphalocele cleft palate syndrome lethal|omphalocele-cleft palate syndrome, lethal|Czeizel syndrome	http://purl.obolibrary.org/obo/MONDO_0009780	Lethal omphalocele-cleft palate syndrome is characterized by the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. One had omphalocele, posterior cleft palate, and uterus bicornuatus; she died at 2 months. The second had omphalocele, cleft uvula, and hydrocephalus and died at 4 months; the third had omphalocele and cleft palate and died at 1 year. This syndrome is likely to be inherited as an autosomal recessive condition.	MESH:C537747|SNOMEDCT:719408007|UMLS:C1850317|http://identifiers.org/omim/258320|ORPHA:2736
MONDO:0010780	mitochondrial myopathy with reversible cytochrome C oxidase deficiency	biolink:Disease	mondo	ICD10:G71.3|Orphanet:254864|UMLS:C3151898|OMIM:500009	ordo_disease	MMIT|reversible infantile respiratory chain deficiency|reversible infantile cytochrome C oxidase deficiency|mitochondrial myopathy, infantile, transient; MMIT|infantile reversible cytochrome C oxidase deficiency myopathy|Cox deficiency myopathy, infantile, transient|benign COX deficiency|mitochondrial myopathy with reversible COX deficiency|mitochondrial myopathy, infantile, transient, due to respiratory chain deficiency|mitochondrial myopathy, infantile, transient|respiratory chain deficiency, infantile, transient|mitochondrial myopathy with reversible complex IV deficiency	http://purl.obolibrary.org/obo/MONDO_0010780		UMLS:C3151898|ORPHA:254864|http://identifiers.org/omim/500009
MONDO:0010783	Alzheimer disease, susceptibility to, mitochondrial	biolink:Disease	mondo	OMIM:502500	predisposition	Alzheimer disease, susceptibility to, mitochondrial	http://purl.obolibrary.org/obo/MONDO_0010783		http://identifiers.org/omim/502500
MONDO:0010782	myopathy, lactic acidosis, and sideroblastic anemia 3	biolink:Disease	mondo	UMLS:C4225415|DOID:0111184|OMIM:500011		MLASA3|myopathy, lactic acidosis, and sideroblastic anemia 3; MLASA3|myopathy, lactic acidosis, and sideroblastic anemia 3|myopathy, lactic acidosis, and sideroblastic anemia type 3	http://purl.obolibrary.org/obo/MONDO_0010782		DOID:0111184|UMLS:C4225415|http://identifiers.org/omim/500011
MONDO:0019119	muscular channelopathy	biolink:Disease	mondo	EFO:1001899|Orphanet:71864	ordo_group_of_disorders	channelopathy of muscle tissue|muscle tissue channelopathy	http://purl.obolibrary.org/obo/MONDO_0019119	A channelopathy that involves the muscle tissue.	ORPHA:71864
MONDO:0010785	maternally-inherited diabetes and deafness	biolink:Disease	mondo	GARD:0004003|UMLS:C0342289|UMLS:C4330695|Orphanet:225|ICD10:E13.8|OMIM:520000|NCIT:C131859|MESH:C536246|SCTID:237619009|ICD9:250.80	ordo_disease|gard_rare	noninsulin-dependent diabetes mellitus with deafness|diabetes and deafness, maternally inherited|mitochondrial diabetes|MIDD|diabetes mellitus type II with deafness|diabetes mellitus, type II, with deafness|Ballinger Wallace syndrome|diabetes and deafness, maternally inherited; MIDD|diabetes-deafness syndrome, maternally Transmitted|maternally inherited diabetes and deafness|Niddm with deafness|Ballinger-Wallace syndrome	http://purl.obolibrary.org/obo/MONDO_0010785	Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.	NCIT:C131859|UMLS:C4330695|SNOMEDCT:237619009|http://identifiers.org/omim/520000|ORPHA:225|MESH:C536246|UMLS:C0342289
MONDO:0019118	inherited retinal dystrophy	biolink:Disease	mondo	MedDRA:10038857|MESH:D058499|COHD:377270|ICD9:362.75|SCTID:41799005|SCTID:314407005|Orphanet:71862|ICD10:H35.50|COHD:380395|ICD9:362.72|ICD9:362.7|HP:0000556|NCIT:C35194|DOID:8501|ICD10:H35.5|DOID:8500|NCIT:C35625|UMLS:C0154860|UMLS:C0854723|ICD9:362.70	ordo_group_of_disorders	fundus dystrophy|familial retinal dystrophy|retinal dystrophy|hereditary retinal degeneration|hereditary retinal dystrophy|genetic retinal dystrophy	http://purl.obolibrary.org/obo/MONDO_0019118	An instance of retinal degeneration that is caused by an inherited modification of the individual's genome.	MEDDRA:10038857|NCIT:C35194|NCIT:C35625|UMLS:C0854723|ORPHA:71862|SNOMEDCT:41799005|MESH:D058499|UMLS:C0154860|DOID:8500|DOID:8501|SNOMEDCT:314407005
MONDO:0010784	chloramphenicol toxicity	biolink:Disease	mondo	OMIM:515000		anemia, chloramphenicol-induced|chloramphenicol resistance|chloramphenicol toxicity	http://purl.obolibrary.org/obo/MONDO_0010784		http://identifiers.org/omim/515000
MONDO:0010787	Kearns-Sayre syndrome	biolink:Disease	mondo	Orphanet:480|SCTID:25792000|COHD:81539|MedDRA:10048804|MESH:D007625|ICD10:H49.81|OMIM:530000|UMLS:C0022541|GARD:0006817|ICD10:H49.8|NCIT:C84798|DOID:12934	gard_rare|ordo_disease	Kearns-Sayre syndrome; KSS|CPEO with ragged-Red fibers|ophthalmoplegia, pigmentary Degeneration of retina, and cardiomyopathy|CPEO with ragged red fibers|chronic progressive external ophthalmoplegia with myopathy|CPEO with myopathy|ophthalmoplegia, progressive external, with ragged-Red fibers|ophthalmoplegia plus syndrome|ophthalmoplegia, progressive external, with ragged red fibers|Kearns-Sayre syndrome|mitochondrial Cytopathy|KSS|oculocraniosomatic syndrome|ophthalmoplegia-plus syndrome	http://purl.obolibrary.org/obo/MONDO_0010787	Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.	http://identifiers.org/omim/530000|MESH:D007625|DOID:12934|UMLS:C0022541|NCIT:C84798|ORPHA:480|MEDDRA:10048804|SNOMEDCT:25792000
MONDO:0010786	chronic diarrhea with villous atrophy	biolink:Disease	mondo	ICD10:K59.1|OMIM:520100|MESH:C564019|Orphanet:1670|UMLS:C1838912	ordo_disease	diarrhea, chronic, with villous atrophy	http://purl.obolibrary.org/obo/MONDO_0010786	Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insuficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994.	UMLS:C1838912|http://identifiers.org/omim/520100|ORPHA:1670|MESH:C564019
HGNC:19869	SCARF2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19869		
HGNC:17208	BICD2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17208		
MONDO:0019115	obesity due to melanocortin 4 receptor deficiency	biolink:Disease	mondo	UMLS:C4273958|NCIT:C120394|SCTID:717269008|Orphanet:71529|ICD10:E66.8	ordo_malformation_syndrome	MC4R deficiency	http://purl.obolibrary.org/obo/MONDO_0019115	Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function.	NCIT:C120394|SNOMEDCT:717269008|UMLS:C4273958|ORPHA:71529
MONDO:0022756	chromosome 1q deletion	biolink:Disease	mondo	UMLS:CN072190|GARD:0008669	gard_rare	partial monosomy 1q|monosomy 1q|deletion 1q|1q deletion|1q monosomy	http://purl.obolibrary.org/obo/MONDO_0022756	Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on thelong arm (q) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.	UMLS:CN072190
MONDO:0022757	chromosome 20 trisomy	biolink:Disease	mondo	NCIT:C36397|GARD:0005332|MESH:C535372|UMLS:C0265479	gard_rare	mosaic trisomy 20|trisomy 20|trisomy chromosome 20|trisomy 20 mosaicism	http://purl.obolibrary.org/obo/MONDO_0022757	Chromosome 20 trisomy, (also called trisomy 20) is a condition in which a fetus or individual has an extra full or partial copy of chromosome 20 in some or allof of his/her cells. An extra full copy of chromosome 20 in all of a person's cells is rare, and almost all fetuses with this do not survive past the first trimester ofpregnancy. The presence of an extra copyof only part of chromosome 20 is called partial trisomy 20; and an extra copy of chromosome 20 in only some of a person's cells is called mosaic trisomy 20. Mosaic trisomy 20 is the most common type of chromosome 20 trisomy and is one of the more common chromosomal abnormalities found during prenatal diagnostic testing. Studies have shown that the child is normal in the vast majority of prenatally diagnosed individuals. However, features that have been reported include spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia (decreased muscle tone), life long constipation, sloped shoulders, and significant learning disabilities despite normal intelligence. Trisomy 20 usually results from an error that occurs when an egg or sperm cell develops (before fertilization); mosaic trisomy 20 usually results from errors in cell division soon after fertilization.	UMLS:C0265479|MESH:C535372|NCIT:C36397
MONDO:0019114	psychogenic movement disorders	biolink:Disease	mondo	ICD10:F44.4|Orphanet:71519|MedDRA:10072376|UMLS:C3267131	ordo_clinical_syndrome	psychogenic dystonia	http://purl.obolibrary.org/obo/MONDO_0019114	Psychogenic movement disorders (PMD) are movement disorders that cannot be attributed to any known structural or neurochemical diseases, but represent the manifestation of an underlying psychiatric illness or malingering. Most cases of PMD fall in the psychiatric diagnostic category of conversion disorders of the motor subtype.	UMLS:C3267131|ORPHA:71519|MEDDRA:10072376
MONDO:0019117	genetic nervous system disorder	biolink:Disease	mondo	UMLS:CN205639|Orphanet:71859	ordo_group_of_disorders	rare genetic neurological disorder|genetic nervous system disorder|genetic neurological disorder	http://purl.obolibrary.org/obo/MONDO_0019117	An instance of nervous system disease that is caused by a modification of the individual's genome.	ORPHA:71859|UMLS:CN205639
MONDO:0022758	chromosome 22, monosome mosaic	biolink:Disease	mondo	MESH:C536798|UMLS:CN036765		Mosaic monosome 22|chromosome 22 mosaic monosomy	http://purl.obolibrary.org/obo/MONDO_0022758		MESH:C536798|UMLS:CN036765
MONDO:0019116	obsolete catecholamine-producing tumor	biolink:Disease	mondo	UMLS:CN205637|Orphanet:717			http://purl.obolibrary.org/obo/MONDO_0019116	Catecholamine-producing tumors may arise in the adrenal medulla (pheochromocytomas) or in extraadrenal chromaffin cells (secreting paragangliomas).	ORPHA:717|UMLS:CN205637
MONDO:0022759	trisomy 22	biolink:Disease	mondo	MESH:C536799|UMLS:C0265490|GARD:0005335|SCTID:205655003	gard_rare	chromosome 22 trisomy	http://purl.obolibrary.org/obo/MONDO_0022759	Trisomy 22 is a chromosome disorder in which an extra (third) copy of chromosome 22 is present in every cell of the body where there should normally only be two copies. This condition is commonly found in miscarriages, but only rarely in liveborn infants. Most affected individuals die shortly before or shortly after birth due to severe complications. Common features include an underdeveloped midface (midface hypoplasia)with flat/broad nasal bridge, malformed ears with pits or tags, cleft palate, hypertelorism (wide-spaced eyes), microcephaly and other cranial abnormalities, congenital heart disease, genital abnormalities, and intrauterine growth restriction (IUGR).	UMLS:C0265490|MESH:C536799|SNOMEDCT:205655003
MONDO:0019111	familial thrombocytosis	biolink:Disease	mondo	ICD10:D75.2|Orphanet:71493|SCTID:720950009|UMLS:CN205627|OMIMPS:187950	ordo_disease	hereditary thrombocythemia|hereditary thrombocytosis|thrombocythemia|THCYT|hereditary thrombocytosis disease|familial thrombocythemia	http://purl.obolibrary.org/obo/MONDO_0019111	Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.	ORPHA:71493|SNOMEDCT:720950009|UMLS:CN205627
MONDO:0019110	obsolete rare central nervous system or retinal vascular disease	biolink:Disease	mondo	Orphanet:71281|UMLS:CN205621	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0019110		ORPHA:71281|UMLS:CN205621
MONDO:0019113	benign paroxysmal torticollis of infancy	biolink:Disease	mondo	UMLS:CN205631|SCTID:719521002|Orphanet:71518|ICD10:G24.3	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019113	Benign paroxysmal torticollis of infancy (BPTI) is a rare functional disorder characterised by recurrent episodes of torticollic posturing of the head (inclination or tilting of the head to one side) in healthy children.	SNOMEDCT:719521002|ORPHA:71518|UMLS:CN205631
MONDO:0019112	cancer-associated retinopathy	biolink:Disease	mondo	MESH:D059545|SCTID:404663008|Orphanet:71505|ICD9:362.10	ordo_disease	CAR syndrome|paraneoplastic retinopathy	http://purl.obolibrary.org/obo/MONDO_0019112	Cancer associated retinopathy (CAR) is a paraneoplastic disease of the eye associated with the presence of extraocular malignancy and circulating autoantibodies against retinal proteins.	SNOMEDCT:404663008|ORPHA:71505|MESH:D059545|UMLS:C0730307
HGNC:20862	SLC39A8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20862		
MONDO:0022752	chromosome 16p13.3 deletion syndrome	biolink:Disease	mondo	UMLS:C3502510|MESH:C566433		Rubinstein-Taybi syndrome, Severe|RSTS, Severe	http://purl.obolibrary.org/obo/MONDO_0022752		UMLS:C3502510|MESH:C566433
MONDO:0022754	chromosome 17p deletion	biolink:Disease	mondo	UMLS:CN036220|MESH:C538045|GARD:0006075|NCIT:C36499		17p- syndrome|interstitial deletion 17p|deletion 17p|deletion 17p syndrome|loss of chromosome 17p|monosomy 17p|17p deletion|del(17p)|chromosome 17p deletion syndrome|17p monosomy|chromosome 17p deletion|partial monosomy 17p	http://purl.obolibrary.org/obo/MONDO_0022754	A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 17.	UMLS:CN036220|MESH:C538045|NCIT:C36499
MONDO:0007139	Antipyrine metabolism	biolink:Disease	mondo	OMIM:107290|UMLS:C1862824		antipyrine metabolism	http://purl.obolibrary.org/obo/MONDO_0007139		UMLS:C1862824|http://identifiers.org/omim/107290
MONDO:0022755	chromosome 18 mosaic monosomy	biolink:Disease	mondo	UMLS:CN036727|MESH:C536581|GARD:0003726	gard_rare	Mosaic monosomy 18|monosomy 18 mosaicism|Mosaic monosomy chromosome 18	http://purl.obolibrary.org/obo/MONDO_0022755		MESH:C536581|UMLS:CN036727
MONDO:0007137	isolated congenital anosmia	biolink:Disease	mondo	GARD:0009486|OMIM:107200|MESH:C535983|SCTID:230502003|Orphanet:88620|ICD10:Q07.8	ordo_disease	ANIC|congenital anosmia|anosmia, isolated congenital; ANIC|anosmia, isolated congenital|anosmia, congenital	http://purl.obolibrary.org/obo/MONDO_0007137	This syndrome is characterised by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome.	http://identifiers.org/omim/107200|MESH:C535983|SNOMEDCT:230502003|ORPHA:88620
MONDO:0010767	spermatogenic failure, Y-linked, 2	biolink:Disease	mondo	DOID:0070187|MESH:C564030|OMIM:415000		spermatogenic failure, nonobstructive, Y-linked|spermatogenic failure, Y-linked, 2|oligospermia, nonobstructive, Y-linked|oligozoospermia, nonobstructive, Y-linked|Azf regions|azoospermia Factor regions|spermatogenic failure, Y-linked, 2; SPGFY2|azoospermia, nonobstructive, Y-linked|SPGFY2|spermatogenic arrest, Y-linked|spermatogenic failure, Y-linked, type 2	http://purl.obolibrary.org/obo/MONDO_0010767		MESH:C564030|DOID:0070187|http://identifiers.org/omim/415000
GO:0042475	odontogenesis of dentin-containing tooth	biolink:OntologyClass	mondo			odontogeny|odontogenesis of dentine-containing teeth|odontogenesis of dentine-containing tooth|tooth development|odontosis	http://purl.obolibrary.org/obo/GO_0042475	The process whose specific outcome is the progression of a dentin-containing tooth over time, from its formation to the mature structure. A dentin-containing tooth is a hard, bony organ borne on the jaw or other bone of a vertebrate, and is composed mainly of dentin, a dense calcified substance, covered by a layer of enamel.	
MONDO:0009799	pachydermoperiostosis	biolink:Disease	mondo	Orphanet:2796|GARD:0007299|MedDRA:10051686|SCTID:88220006|ICD10:M89.4|UMLS:CN202658	ordo_malformation_syndrome	hypertrophic osteoarthropathy, primary, autosomal recessive, 1|Touraine Solente Gole syndrome|hypertrophic osteoarthropathy, primary, autosomal recessive, type 1|PHOAR1|PDP|Touraine-Solente-Gole syndrome	http://purl.obolibrary.org/obo/MONDO_0009799		ORPHA:2796|MEDDRA:10051686|SNOMEDCT:88220006|UMLS:CN202658
MONDO:0007138	anterior segment dysgenesis 1	biolink:Disease	mondo	OMIM:107250|ICD10:Q13.8|UMLS:C1862839|DOID:0060605		ASGD1|anterior segment mesenchymal dysgenesis|anterior segment dysgenesis 1; ASGD1|anterior segment ocular dysgenesis|ASMD|anterior segment mesenchymal dysgenesis; ASMD	http://purl.obolibrary.org/obo/MONDO_0007138		UMLS:C1862839|http://identifiers.org/omim/107250|DOID:0060605
MONDO:0010766	46,XX testicular disorder of sex development	biolink:Disease	mondo	Orphanet:393|UMLS:CN205000|NCIT:C127170|UMLS:C2936419|DOID:0111760|GARD:0000399|MESH:D058531|OMIM:400045|ICD10:Q99.1	ordo_malformation_syndrome	XX sex reversal|46,XX testicular disorders of Sex development|46,XX testicular disorder of sex development|46,XX true hermaphroditism, Sry-positive|46,XX Sex reversal type 1|46,XX testicular differences of Sex development|XX male syndrome|ovotesticular disorder of Sex development|De la Chapelle syndrome|ovotesticular DSD|SRXX1|XX, male syndrome|46,XX testicular DSD|46, XX gonadal sex reversal|46,XX Sex reversal, Sry-positive|46,XX SEX reversal 1; SRXX1|XX Male, Sry-positive|46,XX SEX reversal 1|46,XX gonadal dysgenesis, complete, Sry-positive	http://purl.obolibrary.org/obo/MONDO_0010766	46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency.	ORPHA:393|NCIT:C127170|DOID:0111760|UMLS:C0432475|UMLS:CN205000|MESH:D058531|UMLS:C2936419|http://identifiers.org/omim/400045
MONDO:0007135	nonsyndromic congenital nail disorder 6	biolink:Disease	mondo	GARD:0000710|OMIM:107000|DOID:0080084		onychodystrophy-anonychia|anonychia, partial|anonychia/hyponychia and onychodystrophy|NDNC6|absent nails and dystrophic nails|nail disorder, nonsyndromic congenital, 6; NDNC6|nail disorder, nonsyndromic congenital, 6|nonsyndromic congenital nail disorder type 6	http://purl.obolibrary.org/obo/MONDO_0007135		DOID:0080084|http://identifiers.org/omim/107000
MONDO:0010769	hairy ears, Y-linked	biolink:Disease	mondo	OMIM:425500|MESH:C564029|UMLS:C1839070		hypertrichosis pinnae auris, Y-linked|hairy ears, Y-linked	http://purl.obolibrary.org/obo/MONDO_0010769		UMLS:C1839070|http://identifiers.org/omim/425500|MESH:C564029
MONDO:0009798	intellectual disability-cataracts-calcified pinnae-myopathy syndrome	biolink:Disease	mondo	OMIM:259050|UMLS:C0796121|Orphanet:3042|SCTID:726709001|MESH:C536420|GARD:0004488|ICD10:Q87.8	ordo_malformation_syndrome	PRIMS|primrose syndrome; PRIMS|primrose syndrome|ossified EAR cartilages with mental deficiency, muscle wasting, and BONY changes	http://purl.obolibrary.org/obo/MONDO_0009798	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.	MESH:C536420|SNOMEDCT:726709001|http://identifiers.org/omim/259050|ORPHA:3042|UMLS:C0796121
MONDO:0007136	genetic anorectal anomalies	biolink:Disease	mondo	OMIM:107100|MESH:C567938	prototype_pattern	anorectal anomalies	http://purl.obolibrary.org/obo/MONDO_0007136		http://identifiers.org/omim/107100|MESH:C567938
MONDO:0009797	orotic aciduria	biolink:Disease	mondo	OMIM:258900|Orphanet:30|SCTID:47641009|GARD:0005429|ICD10:E79.8|MedDRA:10052621|NCIT:C98944|DOID:0050833	ordo_disease	orotic aciduria 1|OPRT and ODC deficiency|orotate phosphoribosyltransferase and OMP decarboxylase deficiency|orotic aciduria type 1|Umps deficiency|orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency|UMP synthtase deficiency|Ump synthase deficiency|oroticaciduria 1|orotic aciduria without megaloblastic Anemia|orotic aciduria II (formerly)|UMPS|orotic aciduria|uridine monophosphate synthase deficiency|uridine monophosphate synthetase deficiency|oroticaciduria|hereditary orotic aciduria|orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency|orotidylic decarboxylase deficiency	http://purl.obolibrary.org/obo/MONDO_0009797	An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine.	MEDDRA:10052621|http://identifiers.org/omim/258900|SNOMEDCT:47641009|DOID:0050833|NCIT:C98944|ORPHA:30|UMLS:C0268130|UMLS:C0220987|MESH:C537136
GO:0042476	odontogenesis	biolink:OntologyClass	mondo			tooth development|odontosis|odontogenesis of calcareous or chitinous tooth|tooth morphogenesis|odontogeny	http://purl.obolibrary.org/obo/GO_0042476	The process whose specific outcome is the progression of a tooth or teeth over time, from formation to the mature structure(s). A tooth is any hard bony, calcareous, or chitinous organ found in the mouth or pharynx of an animal and used in procuring or masticating food.	
MONDO:0010768	gonadoblastoma	biolink:Disease	mondo	ICDO:9073/1|DOID:3301|UMLS:C0206661|ONCOTREE:OGBL|NCIT:C3754|MESH:D018238|ICD10:D39.1	ordo_disease	gonadoblastoma|gonad blastoma	http://purl.obolibrary.org/obo/MONDO_0010768	A mixed germ cell/sex cord-stromal tumor characterized by the presence of large germ cells which resemble seminoma cells and small cells which resemble Sertoli or granulosa cells. It occurs in the testis and the ovary and is identified in children and adults. It is often associated with gonadal dysgenesis and abnormal karyotype.	DOID:3301|UMLS:C0206661|MESH:D018238|NCIT:C3754
MONDO:0009796	ornithine aminotransferase deficiency	biolink:Disease	mondo	MESH:C538071|GARD:0007272|UMLS:C0018425|Orphanet:414|MESH:D015799|GARD:0006556|OMIM:258870|ICD10:E72.4|NCIT:C84744|DOID:1415	ordo_disease|gard_rare	gyrate atrophy of choroid and retina|Girate atrophy of the retina|hyperornithinemia|Oat deficiency|hyperornithinemia with gyrate atrophy of choroid and retina|hoga|gyrate atrophy of the choroid and/or retina|ornithine Keto acid aminotransferase deficiency|ornithine ketoacid aminotransferase deficiency|GACR|Ornithinemia|OKT deficiency|Ornithinemia with gyrate atrophy|Fuchs gyrate atrophy|Okt deficiency|Fuchs atrophia gyrata chorioideae et retinae|gyrate atrophy of the retina|Fuchs gyrate atrophy of the choroid and retina|gyrate atrophy of choroid and retina; GACR|ornithine-Delta-aminotransferase deficiency|gyrate atrophy|ornithine aminotransferase deficiency|hyperornithinemia-gyrate atrophy of choroid and retina syndrome|OAT deficiency	http://purl.obolibrary.org/obo/MONDO_0009796	Gyrate atrophy of the choroid and retina (GACR) is a very rare, inherited retinal dystrophy, characterized by progressive chorioretinal atrophy, myopia and early cataract.	http://identifiers.org/omim/258870|ORPHA:414|UMLS:C0018425|DOID:1415|UMLS:C0599035|NCIT:C84744|MESH:C538071|MESH:D015799|MESH:C537132
MONDO:0007133	anonychia-onychodystrophy with brachydactyly type b and ectrodactyly	biolink:Disease	mondo	UMLS:C1862842|Orphanet:2355|MESH:C536379|OMIM:106990|GARD:0000711	gard_rare	Kumar-Levick syndrome|autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly|anonychia-onychodystrophy with brachydactyly type b and ectrodactyly	http://purl.obolibrary.org/obo/MONDO_0007133		UMLS:C1862842|MESH:C536379|http://identifiers.org/omim/106990|ORPHA:2355
MONDO:0007134	Cooks syndrome	biolink:Disease	mondo	GARD:0004083|MESH:C537766|SCTID:720747002|Orphanet:1487|ICD10:Q84.6|OMIM:106995|UMLS:C1862841	ordo_malformation_syndrome	Cooks syndrome|anonychia-onychodystrophy with hypoplasia or absence of distal phalanges|anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome|anonychia and absence/hypoplasia of distal phalanges|ODP	http://purl.obolibrary.org/obo/MONDO_0007134	Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized.	UMLS:C1862841|ORPHA:1487|MESH:C537766|SNOMEDCT:720747002|http://identifiers.org/omim/106995
MONDO:0009795	orofaciodigital syndrome IX	biolink:Disease	mondo	GARD:0010520|SCTID:718680001|ICD10:Q87.0|DOID:0060382|MESH:C557818|UMLS:C0796102|OMIM:258865|Orphanet:141007	gard_rare|ordo_malformation_syndrome	oral facial digital syndrome type 9|orofaciodigital syndrome type IX|oral-facial-digital syndrome type 9|OFD9|oral facial digital syndrome 9|orofaciodigital syndrome 9|orofaciodigital syndrome type 9|orofaciodigital syndrome IX; OFD9|orofaciodigital syndrome with retinal abnormalities|orofaciodigital syndrome IX|oral-facial-digital syndrome with retinal abnormalities|oral-Facial-digital syndrome, type 9|OFD syndrome 9|oral-Facial-digital syndrome with retinal abnormalities|Ofds 9	http://purl.obolibrary.org/obo/MONDO_0009795	Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment).	http://identifiers.org/omim/258865|SNOMEDCT:718680001|DOID:0060382|ORPHA:141007|MESH:C557818|UMLS:C0796102
GO:0042470	melanosome	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0042470	A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells.	
MONDO:0009794	orofaciodigital syndrome IV	biolink:Disease	mondo	Orphanet:2753|DOID:0060374|SCTID:239031000|GARD:0000816|MESH:C537133|OMIM:258860|ICD10:Q87.0|UMLS:C0406727	ordo_malformation_syndrome|gard_rare	oral-facial-digital syndrome type 4|Ofd syndrome with tibial defects|orofaciodigital syndrome type IV|orofaciodigital syndrome with tibial dysplasia|orofaciodigital syndrome 4|oral facial digital syndrome 4|orofaciodigital syndrome IV|orofaciodigital syndrome IV; OFD4|OFD syndrome 4|Ofd syndrome, Baraitser-Burn type|oral-Facial-digital syndrome, type 4|Baraitser-Burn syndrome|orofaciodigital syndrome type 4|OFD4|Ofds 4|oral facial digital syndrome type 4|Mohr-Majewski syndrome	http://purl.obolibrary.org/obo/MONDO_0009794	Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.	SNOMEDCT:239031000|DOID:0060374|MESH:C537133|http://identifiers.org/omim/258860|UMLS:C0406727|ORPHA:2753
MONDO:0007131	anonychia with flexural pigmentation	biolink:Disease	mondo	OMIM:106750|MESH:C566278|UMLS:C1862844|Orphanet:69125	ordo_malformation_syndrome	anonychia with flexural pigmentation	http://purl.obolibrary.org/obo/MONDO_0007131	Anonychia with flexural pigmentation is characterised by anonychia and skin abnormalities (hyper- and hypopigmentation in axillae and groins, dry palmar and plantar skin leading to sore and cracked soles). It has been described in a mother and her two children. The mode of transmission is autosomal dominant.	http://identifiers.org/omim/106750|ORPHA:69125|UMLS:C1862844|MESH:C566278
MONDO:0009793	orofaciodigital syndrome III	biolink:Disease	mondo	SCTID:239030004|Orphanet:2752|DOID:0060373|GARD:0010518|MESH:C557817|ICD10:Q87.0|OMIM:258850	ordo_malformation_syndrome|gard_rare	Ofds 3|oral facial digital syndrome type 3|oral-facial-digital syndrome type 3|oral facial digital syndrome 3|orofaciodigital syndrome 3|orofaciodigital syndrome III|orofaciodigital syndrome type 3|orofaciodigital syndrome type III|Sugarman syndrome|orofaciodigital syndrome III; OFD3|OFD syndrome 3|OFD3|oral-Facial-digital syndrome, type 3	http://purl.obolibrary.org/obo/MONDO_0009793	Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit.	SNOMEDCT:239030004|DOID:0060373|MESH:C557817|ORPHA:2752|UMLS:C0406726|http://identifiers.org/omim/258850
MONDO:0007132	anonychia-ectrodactyly	biolink:Disease	mondo	MESH:C566277|GARD:0000708|UMLS:C1862843|OMIM:106900	gard_rare	anonychia-ectrodactyly|anonychia ectrodactyly	http://purl.obolibrary.org/obo/MONDO_0007132		MESH:C566277|http://identifiers.org/omim/106900|UMLS:C1862843
MONDO:0010770	ubiquitin-activating enzyme, Y-linked	biolink:Disease	mondo	OMIM:489000		Ube1Y|ubiquitin-activating enzyme, Y-linked	http://purl.obolibrary.org/obo/MONDO_0010770		http://identifiers.org/omim/489000
MONDO:0009792	ichthyosis-oral and digital anomalies syndrome	biolink:Disease	mondo	UMLS:C1850268|GARD:0002960|OMIM:258840|MESH:C536272|Orphanet:2272	ordo_malformation_syndrome	unusual facies, digital abnormalities, and ichthyosis|Clayton Smith-Donnai syndrome|ichthyosis tapered fingers midline groove up|oral and digital anomalies with ichthyosis	http://purl.obolibrary.org/obo/MONDO_0009792	Ichthyosis-oral and digital anomalies syndrome is characterised by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive.	UMLS:C1850268|ORPHA:2272|http://identifiers.org/omim/258840|MESH:C536272
MONDO:0007130	congenital total pulmonary venous return anomaly	biolink:Disease	mondo	ICD10:Q26.8|SCTID:111323005|EFO:1001167|DOID:4297|ICD10:Q26.2|COHD:432432|NCIT:C98585|ICD9:747.41|Orphanet:99125|OMIM:106700	ordo_morphological_anomaly	pulmonary venolobar syndrome|total anomalous pulmonary VENOUS return 1|scimitar syndrome|total anomalous pulmonary VENOUS return 1; TAPVR1|TAPVR1|scimitar anomaly|TAPVR|total anomalous pulmonary venous return|anomalous pulmonary Venous return	http://purl.obolibrary.org/obo/MONDO_0007130	Total pulmonary venous return (TAPVR) is a form of congenital pulmonary venous return where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure.	DOID:4297|http://identifiers.org/omim/106700|NCIT:C98585|ORPHA:99125|SNOMEDCT:111323005
MONDO:0009791	oral sensibility, disturbance of	biolink:Disease	mondo	GARD:0009476|OMIM:258800	other_hierarchy|gard_rare	oral sensibility, disturbance of|disturbance of oral sensitivity|impairment of oral perception	http://purl.obolibrary.org/obo/MONDO_0009791		http://identifiers.org/omim/258800
MONDO:0010772	Leber optic atrophy and dystonia	biolink:Disease	mondo	DOID:0111755|MESH:C536024|UMLS:C1839040|GARD:0008476|OMIM:500001		Leber's hereditary optic neuropathy with dystonia|LHON and dystonia|Leber hereditary optic neuropathy with dystonia|dystonia familial, with visual failure and striatal lucencies|dystonia, familial, with visual failure and striatal lucencies|LDYT|Marsden syndrome|Leber optic atrophy and dystonia|Leber Hereditary optic neuropathy with dystonia	http://purl.obolibrary.org/obo/MONDO_0010772		http://identifiers.org/omim/500001|MESH:C536024|UMLS:C1839040|DOID:0111755
MONDO:0009790	Opticocochleodentate degeneration	biolink:Disease	mondo	SCTID:77553008|ICD9:333.90|UMLS:C0520711|OMIM:258700|MESH:C563002		Opticocochleodentate degeneration	http://purl.obolibrary.org/obo/MONDO_0009790		MESH:C563002|SNOMEDCT:77553008|UMLS:C0520711|http://identifiers.org/omim/258700
MONDO:0010771	histiocytoid cardiomyopathy	biolink:Disease	mondo	UMLS:C1708371|GARD:0009511|NCIT:C45745|UMLS:CN239812|Orphanet:137675|MESH:C535584|OMIM:500000|DOID:0080198|ICD10:I42.0	ordo_disease|gard_rare	Purkinje cell hamartoma|cardiomyopathy, oncocytic|cardiomyopathy, infantile xanthomatous|myocardial hamartoma|infantile cardiomyopathy with histiocytoid change|congenital cardiomyopathy|histiocytoid cardiomyopathy|infantile xanthomatous cardiomyopathy|isolated Cardiac lipidosis|focal lipid cardiomyopathy|cardiomyopathy, focal Lipid|oncocytic cardiomyopathy|Arachnocytosis of the myocardium|foamy myocardial transformation of infancy|infantile histiocytoid cardiomyopathy|cardiomyopathy, infantile histiocytoid	http://purl.obolibrary.org/obo/MONDO_0010771	Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.	NCIT:C45745|http://identifiers.org/omim/500000|ORPHA:137675|DOID:0080198|UMLS:C1708371|UMLS:CN239812|MESH:C535584
MONDO:0019108	silent sinus syndrome	biolink:Disease	mondo	UMLS:C3698095|ICD9:478.19|SCTID:699802009|Orphanet:71276	ordo_disease	Imploding antrum syndrome	http://purl.obolibrary.org/obo/MONDO_0019108	Silent sinus syndrome is characterised by adult-onset progressive enophthalmos due to collapse of some or all of the maxillary sinus walls.	SNOMEDCT:699802009|ORPHA:71276|UMLS:C3698095
MONDO:0010774	striatonigral degeneration, infantile, mitochondrial	biolink:Disease	mondo	UMLS:C1839022|MESH:C564025|OMIM:500003		bilateral striatal Necrosis, infantile, mitochondrial|infantile bilateral striatal Necrosis, mitochondrial|striatonigral degeneration, infantile, mitochondrial	http://purl.obolibrary.org/obo/MONDO_0010774		http://identifiers.org/omim/500003|UMLS:C1839022|MESH:C564025
MONDO:0019107	Rh deficiency syndrome	biolink:Disease	mondo	ICD10:D58.8|UMLS:C1849387|UMLS:C0272052|DOID:0050641|Orphanet:71275|SCTID:37272000|OMIM:268150|GARD:0012916	gard_rare|ordo_disease	Rh-null disease|RH-null, regulator type; RHNR|Rh-null hemolytic Anemia, regulator type|RH-null, regulator type; RHN|Rh-null disease, regulator type|RH-null, regulator type|Rh-null syndrome|Rh deficiency syndrome|RHNR|RHN|Rh-Mod	http://purl.obolibrary.org/obo/MONDO_0019107	The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome: The regulator type is associated with many different changes (mutations) in the RHAG gene. The amorph type is caused by inactive copies of a gene (silent alleles) at the RH locus. As a result, the RBCs do not express any of the Rh antigens. The absence of the Rh complex alters the RBC shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. These patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the Rh antigens and can only receive blood from people who have the same condition. Rh deficiency syndrome is inherited in an autosomal recessive manner. Management is individualized according to the severity of hemolytic anemia.	http://identifiers.org/omim/268150|SNOMEDCT:37272000|DOID:0050641|ORPHA:71275|UMLS:C1849387|UMLS:C0272052
MONDO:0010773	myopathy and diabetes mellitus	biolink:Disease	mondo	UMLS:C1839028|ICD10:G71.3|Orphanet:2596|GARD:0003881|OMIM:500002|MESH:C564026	ordo_disease	mitochondrial myopathy with diabetes|mitochondrial myopathy, lipid type	http://purl.obolibrary.org/obo/MONDO_0010773		http://identifiers.org/omim/500002|ORPHA:2596|UMLS:C1839028|MESH:C564026
MONDO:0010776	hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial	biolink:Disease	mondo	UMLS:C1839021|OMIM:500005|MESH:C564024		hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial	http://purl.obolibrary.org/obo/MONDO_0010776		http://identifiers.org/omim/500005|UMLS:C1839021|MESH:C564024
MONDO:0019109	CANOMAD syndrome	biolink:Disease	mondo	SCTID:715624006|UMLS:C2931684|Orphanet:71279|ICD10:G61.8|MESH:C537980|GARD:0009778	gard_rare|ordo_disease	chronic ataxic neuropathy ophthalmoplegia M-protein agglutination disialosyl antibodies syndrome|chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome|chronic sensory ataxic neuropathy with anti-dyalosyl IgM antibodies|chronic sensory ataxic neuropathy with anti-disialosyl antibodies	http://purl.obolibrary.org/obo/MONDO_0019109	CANOMAD syndrome (Chronic Ataxic Neuropathy, Ophthalmoplegia, Monoclonal IgM protein, cold Agglutinins and Disialosyl antibodies) is a rare chronic immune-mediated demyelinating polyneuropathy.	UMLS:C2931684|SNOMEDCT:715624006|MESH:C537980|ORPHA:71279
MONDO:0010775	retinitis pigmentosa-deafness syndrome	biolink:Disease	mondo	OMIM:500004|GARD:0004684|ICD10:H35.5|UMLS:CN033130|DOID:0110829|SCTID:57838006		RP21, formerly|RP8, formerly|retinitis pigmentosa-deafness syndrome|retinitis pigmentosa 8, formerly|retinitis pigmentosa 8|retinitis pigmentosa 21, formerly|retinitis pigmentosa 21	http://purl.obolibrary.org/obo/MONDO_0010775	An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has material basis in mutation in the MTTS2 gene in the mitochondrial genome.	http://identifiers.org/omim/500004|DOID:0110829|UMLS:CN033130|SNOMEDCT:57838006
MONDO:0019104	Sandifer syndrome	biolink:Disease	mondo	GARD:0009684|NCIT:C113397|MedDRA:10066142|SCTID:230314007|MESH:C537234|Orphanet:71272|UMLS:C0338465	gard_rare|ordo_disease	Sandifer's syndrome	http://purl.obolibrary.org/obo/MONDO_0019104	Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia.	MEDDRA:10066142|MESH:C537234|UMLS:C0338465|ORPHA:71272|NCIT:C113397|SNOMEDCT:230314007
MONDO:0022745	mixed dust pneumoconiosis	biolink:Disease	mondo	SCTID:32139003|ICD9:504|GARD:0008374|UMLS:C0264436	gard_rare	mixed dust pneumoconiosis|Mixed dust pneumoconiosis|labrador lung	http://purl.obolibrary.org/obo/MONDO_0022745		UMLS:C0264436|SNOMEDCT:32139003
HGNC:19877	GALNT12	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19877		
HGNC:17213	COLEC11	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17213		
MONDO:0022746	chromosome 13p duplication	biolink:Disease	mondo	UMLS:CN037021|MESH:C535450		trisomy 13p|Duplication 13p|chromosome 13p, trisomy	http://purl.obolibrary.org/obo/MONDO_0022746		MESH:C535450|UMLS:CN037021
MONDO:0019103	benign exophthalmos syndrome	biolink:Disease	mondo	Orphanet:71269|ICD10:H05.2|SCTID:719519007|UMLS:C4304668	ordo_disease	bes	http://purl.obolibrary.org/obo/MONDO_0019103	Benign exophthalmos syndrome is characterised by slowly progressive unilateral exophthalmos and ipsilateral mucosal turbinate hypertrophy, without intraorbital or intranasal lesions.	SNOMEDCT:719519007|UMLS:C4304668|ORPHA:71269
HGNC:20856	THAP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20856		
MONDO:0019106	obsolete disseminated peritoneal leiomyomatosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019106		
MONDO:0019105	renal nutcracker syndrome	biolink:Disease	mondo	UMLS:C3178770|GARD:0011971|SCTID:717267005|Orphanet:71273|EFO:1001838|MESH:D059228	ordo_disease	left renal vein entrapment syndrome|RNS|nutcracker syndrome	http://purl.obolibrary.org/obo/MONDO_0019105	1 mmHg). The thin septae between the veins and the collecting system in the renal fornices rupture, with resultant left sided haematuria.	UMLS:C3178770|ORPHA:71273|SNOMEDCT:717267005|MESH:D059228
HGNC:20858	SLC39A14	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20858		
MONDO:0019100	neuromyelitis optica	biolink:Disease	mondo	DOID:8869|EFO:0004256|NCIT:C84934|SCTID:25044007|ICD9:341.0|Orphanet:71211|MedDRA:10029322|UMLS:C0027873|ICD10:G36.0|GARD:0006267|MESH:D009471|COHD:380995	ordo_disease|gard_rare	Devic's neuromyelitis optica|NMO|Devic's syndrome|Devic syndrome|Devic's disease|Devic disease	http://purl.obolibrary.org/obo/MONDO_0019100	Neuromyelitis optica (NMO) and NMO spectrum disorders are inflammatory demyelinating diseases of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis.	UMLS:C0027873|MESH:D009471|ORPHA:71211|MEDDRA:10029322|SNOMEDCT:25044007|NCIT:C84934|DOID:8869
MONDO:0022749	non-neoplastic nevus	biolink:Disease	mondo	NCIT:C3937|ICD9:448.1|SCTID:195381005|UMLS:C0265027		Non-Neoplastic Nevus|Non-neoplastic nevus|non-neoplastic nevus	http://purl.obolibrary.org/obo/MONDO_0022749	A abnormal, congenital formation or mark on the skin or neighboring mucosa that does not show neoplastic growth.	UMLS:C0265027|SNOMEDCT:195381005|NCIT:C3937
HGNC:20859	SLC39A13	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20859		
MONDO:0019102	dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome	biolink:Disease	mondo	Orphanet:71267|SCTID:721089006|UMLS:CN205609	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0019102	Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome is characterised by the association of dentinogenesis imperfecta, delayed tooth eruption, facial dysmorphology, small stature, sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to consanguineous parents. Transmission is autosomal recessive.	ORPHA:71267|UMLS:CN205609|SNOMEDCT:721089006
MONDO:0019101	retinal capillary malformation	biolink:Disease	mondo	Orphanet:71213|ICD10:D18.0	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019101	Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles.	ORPHA:71213|UMLS:C0730304
MONDO:0009808	osteoid osteoma (disease)	biolink:Disease	mondo	MESH:D010017|ICDO:9191/0|NCIT:C3297|HP:0030433|UMLS:C0029441|SCTID:302859004|OMIM:259550		osteoid osteoma	http://purl.obolibrary.org/obo/MONDO_0009808	A small, benign, bone-forming neoplasm that can arise from any bone but more frequently affects the long bones. The central portion of the neoplasm (nidus) contains differentiated osteoblasts which produce osteoid and sometimes bone. The lesion is usually surrounded by hypervascular sclerotic bone and has limited growth potential. Clinical signs and symptoms include pain and localized tenderness, at the site of the lesion. The pain may be intense but in the majority of cases it is completely alleviated by non-steroidal anti-inflammatory drugs. Prognosis is excellent and recurrences are rare.	UMLS:C0029441|NCIT:C3297|http://identifiers.org/omim/259550|SNOMEDCT:302859004|MESH:D010017
MONDO:0009807	osteosarcoma (disease)	biolink:Disease	mondo	EFO:0000637|HP:0002669|ONCOTREE:OS|DOID:3347|NCIT:C9145|ICDO:9180/3		osteoid sarcoma|bone tissue neoplasm|skeletal sarcoma|osteosarcoma, malignant|sarcoma of osteoid|osteosarcoma|osteogenic sarcoma	http://purl.obolibrary.org/obo/MONDO_0009807	A usually aggressive malignant bone-forming mesenchymal neoplasm, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs.	NCIT:C9145|DOID:3347
MONDO:0009806	Bruck syndrome 1	biolink:Disease	mondo	GARD:0001029|UMLS:C1850168|OMIM:259450		Bruck syndrome caused by mutation in FKBP10|Kuskokwim disease|Bruck syndrome 1|arthrogryposis-like disorder|FKBP10 Bruck syndrome|Bruck syndrome 1; BRKS1|Bruck syndrome type 1|BRKS1	http://purl.obolibrary.org/obo/MONDO_0009806	Any Bruck syndrome in which the cause of the disease is a mutation in the FKBP10 gene.	UMLS:C1850168|http://identifiers.org/omim/259450
MONDO:0009805	osteogenesis imperfecta type 9	biolink:Disease	mondo	ICD10:Q78.0|MESH:C564921|OMIM:259440|DOID:0110349|GARD:0010619		osteogenesis imperfecta caused by mutation in PPIB|osteogenesis imperfecta sillence type II/III without abnormality of type I collagen|OI9|OI 9|PPIB osteogenesis imperfecta|osteogenesis imperfecta, type IX; OI9|osteogenesis imperfecta type IX|OI, type 9|osteogenesis imperfecta, type IX|osteogenesis imperfecta, type 9|OI type IX	http://purl.obolibrary.org/obo/MONDO_0009805	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the PPIB gene.	http://identifiers.org/omim/259440|DOID:0110349|MESH:C564921
MONDO:0009804	osteogenesis imperfecta type 3	biolink:Disease	mondo	OMIM:259420|ICD10:Q78.0|NCIT:C99002|GARD:0008695|DOID:0110339|MESH:C536044|Orphanet:216812|SCTID:385483009|UMLS:C0268362	ordo_clinical_subtype	progressively deforming OI|osteogenesis imperfecta, progressively deforming with normal sclerae|osteogenesis imperfecta type III|progressively deforming osteogenesis imperfecta with normal sclera|osteogenesis imperfecta, type 3|OI, type 3|Oi3|OI type 3|progressive deforming osteogenesis imperfecta|osteogenesis imperfecta, type III; OI3|osteogenesis imperfecta, progressively deforming, with normal sclerae|severe osteogenesis imperfecta|osteogenesis imperfecta, type III|OI type III|OI3	http://purl.obolibrary.org/obo/MONDO_0009804	Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI).	UMLS:C0268362|http://identifiers.org/omim/259420|ORPHA:216812|MESH:C536044|NCIT:C99002|DOID:0110339|SNOMEDCT:385483009
MONDO:0009803	congenital osteogenesis imperfecta-microcephaly-cataracts syndrome	biolink:Disease	mondo	UMLS:C1850184|OMIM:259410|MESH:C537558|ICD10:Q78.0|Orphanet:2772	ordo_malformation_syndrome	osteogenesis imperfecta congenita, microcephaly, and cataracts	http://purl.obolibrary.org/obo/MONDO_0009803	Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome is characterised by multiple fractures in the prenatal period, microcephaly and bilateral cataracts. It has been described in three infants all of whom died in utero or a few hours after birth. The mode of inheritance appears to be autosomal recessive.	UMLS:C1850184|http://identifiers.org/omim/259410|ORPHA:2772|MESH:C537558
MONDO:0009802	osteodysplasty, precocious, of Danks, Mayne, and Kozlowski	biolink:Disease	mondo	UMLS:C1850185|OMIM:259270|MESH:C564922|GARD:0008662	gard_rare	osteodysplasty, precocious, of Danks, Mayne, and Kozlowski|Danks Mayne Kozlowski precocious osteodysplasty|osteodysplasty precocious of Danks Mayne and Kozlowski	http://purl.obolibrary.org/obo/MONDO_0009802		http://identifiers.org/omim/259270|MESH:C564922|UMLS:C1850185
MONDO:0009801	familial osteodysplasia, Anderson type	biolink:Disease	mondo	UMLS:C1850186|OMIM:259250|GARD:0004136|MESH:C564923|Orphanet:2769	ordo_malformation_syndrome|gard_rare	osteodysplasia familial Anderson type|osteodysplasia, familial, Anderson type	http://purl.obolibrary.org/obo/MONDO_0009801	Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982.	ORPHA:2769|MESH:C564923|http://identifiers.org/omim/259250|UMLS:C1850186
MONDO:0009800	Blount disease, adolescent	biolink:Disease	mondo	UMLS:C3151572|OMIM:259200		Blount disease, adolescent|tibia vara, adolescent|Osteochondrosis deformans tibiae, adolescent	http://purl.obolibrary.org/obo/MONDO_0009800		UMLS:C3151572|http://identifiers.org/omim/259200
HGNC:4847	HCRT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4847		
NCBITaxon:198624	Dermocystida	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_198624		
HP:0002135	Basal ganglia calcification	biolink:PhenotypicFeature	mondo	UMLS:C1389280		Calcification of the basal ganglia|Basal ganglia calcifications|Basal ganglion calcification	http://purl.obolibrary.org/obo/HP_0002135	The presence of calcium deposition affecting one or more structures of the basal ganglia.	
HGNC:4851	HTT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4851		
HP:0002134	Abnormality of the basal ganglia	biolink:PhenotypicFeature	mondo	UMLS:C0004782|SNOMEDCT_US:70835005|MSH:D001480		Anomaly of the basal ganglia|Basal ganglia disease	http://purl.obolibrary.org/obo/HP_0002134	Abnormality of the basal ganglia.	
UBERON:0006440	os clitoris	biolink:AnatomicalEntity	mondo			os clitoridis|clitoris bone|clitoral bone|baubellum	http://purl.obolibrary.org/obo/UBERON_0006440	The ossified region of endochondral and membranous bone located in the clitoris of most mammals except humans; it is homologous to the penile bone (aka as baculum, penis bone or os penis) in male mammals	
HGNC:19967	CCDC88C	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19967		
HGNC:4855	HDC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4855		
NCBITaxon:186634	Otomorpha	organism taxon	mondo	GC_ID:1		Otocephala|Ostarioclupeomorpha	http://purl.obolibrary.org/obo/NCBITaxon_186634		
CHEBI:18237	glutamic acid	biolink:ChemicalSubstance	mondo			Glutaminsaeure|E|Glutamate|Glu|DL-Glutamic acid|Glutaminic acid|2-Aminoglutaric acid|DL-Glutaminic acid|glutamic acid|2-aminopentanedioic acid|Glutamic acid	http://purl.obolibrary.org/obo/CHEBI_18237	An alpha-amino acid that is glutaric acid bearing a single amino substituent at position 2.	
HGNC:19963	TTLL5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19963		
HGNC:32940	NKX2-6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/32940		
NCBITaxon:160008	Mesocestoides lineatus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_160008		
HGNC:19960	KIAA0586	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19960		
UBERON:0006444	annulus fibrosus	biolink:AnatomicalEntity	mondo			fibrocartilaginous ring|anulus|anulus fibrosus|fibrous ring	http://purl.obolibrary.org/obo/UBERON_0006444	A ring of fibrous or fibrocartilaginous tissue (as of an intervertebral disk or surrounding an orifice of the heart).	
MONDO:0009819	obsolete idiopathic juvenile osteoporosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0009819		
MONDO:0009818	autosomal recessive osteopetrosis 3	biolink:Disease	mondo	SCTID:254122007|NCIT:C118438|OMIM:259730|MESH:C536058|ICD9:588.89|DOID:0110941|ICD10:Q78.2|GARD:0004154|Orphanet:2785	ordo_disease|gard_rare	carbonic anhydrase 2 deficiency|osteopetrosis, autosomal recessive 3|autosomal recessive osteopetrosis type 3|CA2 osteopetrosis (disease)|autosomal recessive osteopetrosis 3 with renal tubular acidosis|Autosomal Recessive osteopetrosis, type 3|Guibaud-Vainsel syndrome|osteopetrosis, autosomal recessive 3; OPTB3|renal tubular acidosis type 3|mixed renal tubular acidosis|osteopetrosis autosomal recessive 3|Guibaud Vainsel syndrome|osteopetrosis (disease) caused by mutation in CA2|osteopetrosis, autosomal recessive type 3|OPTB3|osteopetrosis with renal tubular acidosis|marble brain disease|mixed RTA|carbonic anhydrase II deficiency	http://purl.obolibrary.org/obo/MONDO_0009818	Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.	NCIT:C118438|http://identifiers.org/omim/259730|ORPHA:2785|MESH:C536058|SNOMEDCT:254122007|DOID:0110941
MONDO:0009817	autosomal recessive osteopetrosis 5	biolink:Disease	mondo	DOID:0110939|MESH:C566883|OMIM:259720|GARD:0004153	gard_rare	osteopetrosis, autosomal recessive 5|OPTB5|OSTM1 osteopetrosis (disease)|osteopetrosis, infantile malignant 3|osteopetrosis, autosomal recessive 5; OPTB5|autosomal recessive osteopetrosis type 5|infantile malignant osteopetrosis 3|osteopetrosis autosomal recessive 5|osteopetrosis (disease) caused by mutation in OSTM1|osteopetrosis, autosomal recessive type 5|osteopetrosis infantile malignant 3	http://purl.obolibrary.org/obo/MONDO_0009817	Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the OSTM1 gene.	http://identifiers.org/omim/259720|MESH:C566883|DOID:0110939
MONDO:0009816	autosomal recessive osteopetrosis 2	biolink:Disease	mondo	OMIM:259710|DOID:0110943|MESH:C536059|GARD:0004157	gard_rare	osteopetrosis, autosomal recessive 2|autosomal recessive osteopetrosis caused by mutation in TNFSF11|autosomal recessive malignant osteopetrosis caused by mutation in TNFSF11|osteopetrosis, autosomal recessive 2; OPTB2|OPTB2|TNFSF11 autosomal recessive osteopetrosis|osteoclast-poor osteopetrosis|TNFSF11 autosomal recessive malignant osteopetrosis|osteopetrosis autosomal recessive 2|mild autosomal recessive form osteopetrosis|osteopetrosis, autosomal recessive type 2|osteopetrosis osteoclast-poor|osteopetrosis, mild autosomal recessive form|autosomal recessive osteopetrosis type 2|osteopetrosis, osteoclast-poor	http://purl.obolibrary.org/obo/MONDO_0009816	Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFSF11 gene.	http://identifiers.org/omim/259710|MESH:C536059|DOID:0110943
NCBITaxon:6447	Mollusca	organism taxon	mondo	GC_ID:1		molluscs|mollusks|molluscs	http://purl.obolibrary.org/obo/NCBITaxon_6447		
MONDO:0009815	autosomal recessive osteopetrosis 1	biolink:Disease	mondo	GARD:0002579|DOID:0110942|MESH:C564915|OMIM:259700	gard_rare	marble bones, autosomal recessive|autosomal recessive osteopetrosis type 1|Albers-Schonberg disease, autosomal recessive|marble bones autosomal recessive|osteopetrosis autosomal recessive 1|osteopetrosis, infantile malignant 1|autosomal recessive malignant osteopetrosis caused by mutation in TCIRG1|osteopetrosis, autosomal recessive 1|autosomal recessive osteopetrosis caused by mutation in TCIRG1|osteopetrosis, autosomal recessive 1; OPTB1|TCIRG1 autosomal recessive osteopetrosis|osteopetrosis infantile malignant 1|autosomal recessive Albers-Schonberg disease|TCIRG1 autosomal recessive malignant osteopetrosis|OPTB1|infantile malignant osteopetrosis 1|osteopetrosis, autosomal recessive type 1	http://purl.obolibrary.org/obo/MONDO_0009815	Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene.	http://identifiers.org/omim/259700|DOID:0110942|MESH:C564915
HGNC:32925	ATXN8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/32925		
MONDO:0009814	osteopenia-intellectual disability-sparse hair syndrome	biolink:Disease	mondo	Orphanet:2324|SCTID:732954002|OMIM:259690|UMLS:C1850140|GARD:0000354|MESH:C537706	ordo_malformation_syndrome	Kaler Garrity Stern syndrome|osteopenia mental retardation sparse hair|Kaler-Garrity-Stern syndrome|osteopenia intellectual disability sparse hair|osteopenia and sparse hair	http://purl.obolibrary.org/obo/MONDO_0009814	Kaler-Garrity-Stern syndrome is a rare syndrome, described in two sisters of Mennonite descent, characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992.	http://identifiers.org/omim/259690|ORPHA:2324|MESH:C537706|SNOMEDCT:732954002|UMLS:C1850140
NCBITaxon:6448	Gastropoda	organism taxon	mondo	GC_ID:1		gastropods|gastropods	http://purl.obolibrary.org/obo/NCBITaxon_6448		
MONDO:0009813	chronic recurrent multifocal osteomyelitis (disease)	biolink:Disease	mondo	DOID:0060645|OMIM:259680|MESH:C535456|UMLS:C0410422|ICD10:M86.3|Orphanet:324964|HP:0002754|GARD:0006108|NCIT:C119042|SCTID:240151005	ordo_disease	chronic recurrent multifocal osteomyelitis|NBO|chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis|chronic multifocal osteomyelitis|CMO|non-bacterial osteomyelitis|multifocal osteomyelitis, chronic|CRMO|CNO/CRMO|osteomyelitis, chronic multifocal|chronic recurrent multifocal osteomyelitis; CRMO	http://purl.obolibrary.org/obo/MONDO_0009813	Chronic non bacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine.	http://identifiers.org/omim/259680|UMLS:C0410422|MESH:C535456|DOID:0060645|NCIT:C119042|SNOMEDCT:240151005|ORPHA:324964
MONDO:0009812	osteomalacia, sclerosing, with cerebral calcification	biolink:Disease	mondo	OMIM:259660|MESH:C564916|UMLS:C1850141		osteomalacia, sclerosing, with cerebral calcification	http://purl.obolibrary.org/obo/MONDO_0009812		http://identifiers.org/omim/259660|MESH:C564916|UMLS:C1850141
CHEBI:33888	cobalt molecular entity	biolink:ChemicalSubstance	mondo			cobalt molecular entities|cobalt compounds|cobalt molecular entity	http://purl.obolibrary.org/obo/CHEBI_33888		
MONDO:0009811	osteoma of middle ear	biolink:Disease	mondo	OMIM:259650|MESH:C564917|UMLS:C1850142		osteoma of middle ear	http://purl.obolibrary.org/obo/MONDO_0009811		MESH:C564917|UMLS:C1850142|http://identifiers.org/omim/259650
MONDO:0009810	autosomal recessive distal osteolysis syndrome	biolink:Disease	mondo	OMIM:259610|UMLS:C1850143|GARD:0004299|SCTID:715487005|Orphanet:2776|GARD:0004144|UMLS:C4275111|MESH:C536052	ordo_malformation_syndrome|gard_rare	osteolysis, distal, with short stature, intellectual disability, and characteristic facial appearance|Petit-Fryns syndrome|osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance|osteolysis syndrome recessive|osteolysis syndrome, recessive|osteolysis, distal, with short stature, intellectual disability, and characteristic Facial appearance|osteolysis, distal, with short stature, mental retardation, and characteristic Facial appearance|distal osteolysis-short stature-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0009810	Autosomal recessive distal osteolysis syndrome is an early-onset distal osteolysis characterised by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait.	MESH:C536052|ORPHA:2776|SNOMEDCT:715487005|UMLS:C4275111|UMLS:C1850143|http://identifiers.org/omim/259610
UBERON:0018415	ethmoid foramen	biolink:AnatomicalEntity	mondo			ethmoidal foramina|foramina ethmoidalia|ethmoidal foramen|ethmoid foramina	http://purl.obolibrary.org/obo/UBERON_0018415	An bone foramen in the ethmoid bone.	
UBERON:0018413	facial nerve canal	biolink:AnatomicalEntity	mondo			fallopian canal|facial canal|canalis nervi facialis	http://purl.obolibrary.org/obo/UBERON_0018413	A Z-shaped canal running through the temporal bone from the internal acoustic meatus to the stylomastoid foramen. It is located within the middle ear region, according to its shape it is divided into three main segments: the labyrinthine, the tympanic, and the mastoidal segment .	
HGNC:4861	HELLS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4861		
HP:0002145	Frontotemporal dementia	biolink:PhenotypicFeature	mondo	MSH:D057180|UMLS:C0338451|SNOMEDCT_US:230270009			http://purl.obolibrary.org/obo/HP_0002145	A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders.	
HP:0002148	Hypophosphatemia	biolink:PhenotypicFeature	mondo	UMLS:C0085682|MSH:D017674|SNOMEDCT_US:4996001		Low blood phosphate level|Hypophosphataemia	http://purl.obolibrary.org/obo/HP_0002148	An abnormally decreased phosphate concentration in the blood.	
HP:0002149	Hyperuricemia	biolink:PhenotypicFeature	mondo	UMLS:C0740394|MSH:D033461|SNOMEDCT_US:35885006		High blood uric acid level|Hyperuricaemia	http://purl.obolibrary.org/obo/HP_0002149	An abnormally high level of uric acid in the blood.	
HGNC:17318	RXFP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17318		
HGNC:4867	HERC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4867		
NCBITaxon:186623	Actinopteri	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_186623		
HGNC:2205	CERT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2205		
HGNC:2204	COL4A3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2204		
HGNC:19977	RDH12	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19977		
NCBITaxon:186625	Clupeocephala	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_186625		
HGNC:2203	COL4A2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2203		
HGNC:2202	COL4A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2202		
NCBITaxon:186627	Cypriniphysae	organism taxon	mondo	GC_ID:1		Cypriniphysi	http://purl.obolibrary.org/obo/NCBITaxon_186627		
HGNC:2201	COL3A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2201		
HP:0002143	Abnormality of the spinal cord	biolink:PhenotypicFeature	mondo	UMLS:C0037928|MSH:D013118|UMLS:C4025722|SNOMEDCT_US:48522003		Spinal cord disease|Spinal cord pathology|Abnormality of the spinal cord	http://purl.obolibrary.org/obo/HP_0002143	An abnormality of the spinal cord (myelon).	
NCBITaxon:186626	Otophysi	organism taxon	mondo	GC_ID:1		Otophysa	http://purl.obolibrary.org/obo/NCBITaxon_186626		
UBERON:0006435	os penis	biolink:AnatomicalEntity	mondo			penis bone|penile bone|os baculum|baculum	http://purl.obolibrary.org/obo/UBERON_0006435	the unique bone located in the glans penis of most mammals except humans; it is used for copulation and varies in size and shape by species	
HGNC:2200	COL2A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2200		
HP:0002140	Ischemic stroke	biolink:PhenotypicFeature	mondo	UMLS:C0948008|SNOMEDCT_US:422504002		Ischaemic stroke	http://purl.obolibrary.org/obo/HP_0002140		
MONDO:0009809	multicentric osteolysis, nodulosis, and arthropathy	biolink:Disease	mondo	NCIT:C123437|OMIM:259600		Torg-Winchester syndrome, formerly|Al-Aqeel Sewairi syndrome|Torg-Winchester syndrome|Torg syndrome|mona|multicentric osteolysis, nodulosis, and arthropathy|nodulosis-arthropathy-osteolysis syndrome|osteolysis, hereditary multicentric|multicentric osteolysis, nodulosis, and arthropathy; mona|NAO syndrome	http://purl.obolibrary.org/obo/MONDO_0009809	A rare, autosomal recessive inherited syndrome caused by mutations in the MMP2 gene. It is characterized by the presence of multiple, painless subcutaneous nodules, osteolysis particularly in the hands and feet, osteoporosis, and arthropathy.	NCIT:C123437|http://identifiers.org/omim/259600
HGNC:2209	COL5A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2209		
HGNC:2208	COL4A6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2208		
HGNC:2207	COL4A5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2207		
HGNC:2206	COL4A4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2206		
HGNC:4868	HERC2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4868		
UBERON:0018408	infra-orbital nerve	biolink:AnatomicalEntity	mondo			infraorbital nerve|infra-orbital nerve|infraorbital portion	http://purl.obolibrary.org/obo/UBERON_0018408	A branch of the maxillary nerve that enters the infraorbital canal and innervates the lower eyelid, upper lip, the nasal vestibule, the upper incisors, canines, premolars, upper gums, lower eyelid and conjunctiva, and part of the nose.	
CHEBI:33856	aromatic amino acid	biolink:ChemicalSubstance	mondo			aromatic amino acids|Aromatic amino acid	http://purl.obolibrary.org/obo/CHEBI_33856	An amino acid whose structure includes an aromatic ring.	
HP:0002119	Ventriculomegaly	biolink:PhenotypicFeature	mondo	UMLS:C3278923		Enlarged ventricular system|Cerebral ventricular dilatation|Dilated cerebral ventricles|Ventricular dilatation|Dilated ventricles|Dilated cerebral ventricle|Enlarged cerebral ventricles|Large cerebral ventricles and cisternae|Enlarged ventricles	http://purl.obolibrary.org/obo/HP_0002119	An increase in size of the ventricular system of the brain.	
CHEBI:33859	aromatic carboxylic acid	biolink:ChemicalSubstance	mondo			aromatic carboxylic acids	http://purl.obolibrary.org/obo/CHEBI_33859	Any carboxylic acid in which the carboxy group is directly bonded to an aromatic ring.	
HP:0002113	Pulmonary infiltrates	biolink:PhenotypicFeature	mondo	UMLS:C0235896		Pulmonic infiltration|Lung infiltrates	http://purl.obolibrary.org/obo/HP_0002113		
HP:0002118	Abnormality of the cerebral ventricles	biolink:PhenotypicFeature	mondo	UMLS:C4025724			http://purl.obolibrary.org/obo/HP_0002118	Abnormality of the cerebral ventricles.	
CHEBI:33853	phenols	biolink:ChemicalSubstance	mondo			Aryl alcohol|a phenol|arenols|phenols	http://purl.obolibrary.org/obo/CHEBI_33853	Organic aromatic compounds having one or more hydroxy groups attached to a benzene or other arene ring.	
HGNC:4877	HESX1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4877		
HGNC:4878	HEXA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4878		
NCBITaxon:39054	Enterovirus A71	organism taxon	mondo	GC_ID:1		EV71|EV-A71|Human enterovirus A71|EV-71|Enterovirus EV-A71|Human enterovirus 71|enterovirus type 71|Enterovirus 71|Human enterovirus type 71	http://purl.obolibrary.org/obo/NCBITaxon_39054		
HGNC:2216	COL8A2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2216		
HGNC:2214	COL7A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2214		
HGNC:2213	COL6A3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2213		
HGNC:2212	COL6A2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2212		
HP:0002110	Bronchiectasis	biolink:PhenotypicFeature	mondo	UMLS:C0006267|MSH:D001987|SNOMEDCT_US:12295008		Permanent enlargement of the airways of the lungs	http://purl.obolibrary.org/obo/HP_0002110	Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.	
HGNC:2211	COL6A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2211		
HGNC:2210	COL5A2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2210		
NCBITaxon:1903411	Yersiniaceae	organism taxon	mondo	PMID:27620848|GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_1903411		
HGNC:2219	COL9A3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2219		
HGNC:2218	COL9A2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2218		
NCBITaxon:1903414	Morganellaceae	organism taxon	mondo	PMID:27620848|GC_ID:11		Morganellaceae Adeolu et al. 2016	http://purl.obolibrary.org/obo/NCBITaxon_1903414		
HGNC:2217	COL9A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2217		
HGNC:4879	HEXB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4879		
NCBITaxon:1903410	Pectobacteriaceae	organism taxon	mondo	PMID:27620848|GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_1903410		
HGNC:4883	CFH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4883		
CHEBI:33860	aromatic amine	biolink:ChemicalSubstance	mondo			aryl amines|aryl amine|arylamines|aromatic amines|arylamine	http://purl.obolibrary.org/obo/CHEBI_33860	An amino compound in which the amino group is linked directly to an aromatic system.	
CHEBI:33861	transition element coordination entity	biolink:ChemicalSubstance	mondo			transition metal coordination compounds|transition element coordination entities|transition metal coordination entities	http://purl.obolibrary.org/obo/CHEBI_33861		
HGNC:4886	HFE	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4886		
HGNC:4887	HJV	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4887		
HP:0004789	Lactose intolerance	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:267425008|UMLS:C0022951|MSH:D007787|SNOMEDCT_US:700094005		Lactose intolerance|Milk intolerance	http://purl.obolibrary.org/obo/HP_0004789	An inability to digest lactose.	
HGNC:4888	CFHR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4888		
HGNC:19957	TECPR2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19957		
HGNC:19954	SLC25A22	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19954		
HGNC:2227	COMP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2227		
CHEBI:18248	iron atom	biolink:ChemicalSubstance	mondo			26Fe|fer|Fe|iron|hierro|iron|Iron|Eisen|ferrum	http://purl.obolibrary.org/obo/CHEBI_18248	An iron group element atom that has atomic number 26.	
HGNC:2226	COLQ	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2226		
HP:0100716	Self-injurious behavior	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:248062006|UMLS:C0085271|MSH:D016728		Autoagression|Self injury|Self-injurious behaviour|Self-harm|Self-injurious behavior|Self-injurious behaviors	http://purl.obolibrary.org/obo/HP_0100716	Aggression towards oneself.	
HP:0002121	Generalized non-motor (absence) seizure	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:230413002|MSH:D004832|SNOMEDCT_US:432241000124101|SNOMEDCT_US:79631006|SNOMEDCT_US:50866000|UMLS:C0014553		Petit mal seizure|Brief seizures with staring spells|Absence seizures|Absence seizure|Petit mal|Petit mal seizures|Generalised non-motor (absence) seizure|Generalised non-motor seizure	http://purl.obolibrary.org/obo/HP_0002121	A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.	
HGNC:2220	COLEC10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2220		
NCBITaxon:644710	Anisakis simplex complex	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_644710		
MONDO:0009849	hyperimmunoglobulinemia D with periodic fever	biolink:Disease	mondo	OMIM:260920|UMLS:C0398691|ICD10:E85.0|GARD:0002788|Orphanet:343	ordo_disease	periodic fever, Dutch type|HIDS|hyper-IgD syndrome; HIDS|hyperimmunoglobinemia D with recurrent fever|periodic fever Dutch type|hyper-IgD syndrome|hyper IgD syndrome|hyperimmunoglobulinemia D and periodic fever syndrome|hyperimmunoglobulinemia D syndrome|partial mevalonate kinase deficiency	http://purl.obolibrary.org/obo/MONDO_0009849	Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).	UMLS:C0398691|ORPHA:343|http://identifiers.org/omim/260920
MONDO:0009848	dissecting cellulitis of the scalp	biolink:Disease	mondo	MESH:C562486|GARD:0001883|ICD10:L08.8|SCTID:77333008|Orphanet:345|UMLS:C0263506|ICD9:704.8|MedDRA:10056961|OMIM:260910	ordo_disease|gard_rare	dissecting cellulitis of the scalp|perifolliculitis capitis ABSCEDENS ET SUFFODIENS, familial	http://purl.obolibrary.org/obo/MONDO_0009848	Dissecting cellulitis of the scalp is a rare chronic suppurative dermatosis of the scalp that mainly affects black men and that is characterized by multiple painful inflammatory follicular and perifollicular nodules, pustules, and abscesses that interconnect via sinus tracts and eventually result in scarring alopecia.	ORPHA:345|SNOMEDCT:77333008|UMLS:C0263506|http://identifiers.org/omim/260910|MESH:C562486|MEDDRA:10056961
MONDO:0009847	pericardial effusion, chronic	biolink:Disease	mondo	OMIM:260900|UMLS:C1850039|MESH:C564895		chronic pericardial effusion (disease)|cholesterol pericarditis|pericardial effusion (disease), chronic|pericardial effusion, chronic	http://purl.obolibrary.org/obo/MONDO_0009847	Chronic form of pericardial effusion (disease).	http://identifiers.org/omim/260900|MESH:C564895|UMLS:C1850039
MONDO:0022820	congenital articular rigidity	biolink:Disease	mondo	GARD:0001473	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022820		
MONDO:0009846	pentosuria	biolink:Disease	mondo	MedDRA:10064170|Orphanet:2843|DOID:0111258|GARD:0000418|ICD9:271.8|OMIM:260800|ICD10:E74.8|UMLS:C0268162|SCTID:190764000|MESH:C536652	gard_rare|mostly_harmless|ordo_disease	essential pentosuria|PNTSU|pentosuria|xylitol dehydrogenase deficiency|pentosuria; PNTSU|L-xylulose reductase deficiency|L-Xylulosuria	http://purl.obolibrary.org/obo/MONDO_0009846	Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day.	DOID:0111258|MESH:C536652|http://identifiers.org/omim/260800|UMLS:C0268162|SNOMEDCT:190764000|MEDDRA:10064170|ORPHA:2843
MONDO:0009845	pelviscapular dysplasia	biolink:Disease	mondo	MESH:C535550|GARD:0001555|UMLS:C1850040|OMIM:260660|ICD10:Q87.5|SCTID:719299009|Orphanet:93333	ordo_malformation_syndrome	craniofacial dysmorphism, hypoplasia of scapula and pelvis and short stature|Cousin syndrome|pelviscapular dysplasia|familial pelvis-scapular dysplasia|COUSIN syndrome|craniofacial Dysmorphism, hypoplasia of scapula and pelvis, and short stature	http://purl.obolibrary.org/obo/MONDO_0009845	Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.	SNOMEDCT:719299009|http://identifiers.org/omim/260660|MESH:C535550|ORPHA:93333|UMLS:C1850040
MONDO:0022821	congenital benign spinal muscular atrophy dominant	biolink:Disease	mondo	GARD:0001474	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022821		
HGNC:2228	COMT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2228		
MONDO:0010833	Hirschsprung disease, susceptibility to, 2	biolink:Disease	mondo	GARD:0002698|OMIM:600155	predisposition	EDNRB Hirschsprung disease|Hirschsprung disease type 2|susceptibility to Hirschsprung disease 2|Hirschsprung disease, susceptibility to, 2|Hirschsprung disease caused by mutation in EDNRB|Hirschsprung disease, susceptibility to, type 2|Hirschsprung disease, susceptibility to, 2; HSCR2|HSCR2	http://purl.obolibrary.org/obo/MONDO_0010833	Any Hirschsprung disease in which the cause of the disease is a mutation in the EDNRB gene.	http://identifiers.org/omim/600155
MONDO:0009844	pellagra-like syndrome	biolink:Disease	mondo	UMLS:C1850052|GARD:0004267|Orphanet:2837|OMIM:260650|MESH:C538352	gard_rare	pellagra-like syndrome|pellagra-like skin rash-neurological manifestations syndrome|pellagra-like rash with neurologic manifestations|pellagra like syndrome	http://purl.obolibrary.org/obo/MONDO_0009844		http://identifiers.org/omim/260650|UMLS:C1850052|MESH:C538352|ORPHA:2837
CHEBI:33833	heteroarene	biolink:ChemicalSubstance	mondo			hetarenes|heteroarenes	http://purl.obolibrary.org/obo/CHEBI_33833	A heterocyclic compound formally derived from an arene by replacement of one or more methine (-C=) and/or vinylene (-CH=CH-) groups by trivalent or divalent heteroatoms, respectively, in such a way as to maintain the continuous pi-electron system characteristic of aromatic systems and a number of out-of-plane pi-electrons corresponding to the Hueckel rule (4n+2).	
MONDO:0009843	hypomyelinating leukodystrophy 3	biolink:Disease	mondo	OMIM:260600|GARD:0004266|DOID:0060790|UMLS:C1850053|ICD10:E75.2|MESH:C536319|Orphanet:280293	ordo_clinical_subtype|gard_rare	leukodystrophy, hypomyelinating, 3; HLD3|leukodystrophy caused by mutation in AIMP1|Pelizaeus-Merzbacher-like disease due to AIMP1 mutation|leukodystrophy, hypomyelinating, type 3|hypomyelinating leukodystrophy type 3|perinatal Sudanophilic leukodystrophy|leukodystrophy, hypomyelinating 3|AIMP1 leukodystrophy|HLD3|leukodystrophy, hypomyelinating, 3	http://purl.obolibrary.org/obo/MONDO_0009843	Any leukodystrophy in which the cause of the disease is a mutation in the AIMP1 gene.	http://identifiers.org/omim/260600|ORPHA:280293|DOID:0060790|UMLS:C1850053|MESH:C536319
MONDO:0010832	Bardet-Biedl syndrome 3	biolink:Disease	mondo	OMIM:600151|UMLS:C1859564|GARD:0000822|ICD10:Q87.89|MESH:C537911|DOID:0110125	gard_rare	Bardet-Biedl syndrome type 3|Bardet-Biedl syndrome 3|Bardet-Biedl syndrome 3; BBS3|BBS3	http://purl.obolibrary.org/obo/MONDO_0010832		UMLS:C1859564|http://identifiers.org/omim/600151|MESH:C537911|DOID:0110125
UBERON:2002067	upper hypural set	biolink:AnatomicalEntity	mondo			upper hypurals	http://purl.obolibrary.org/obo/UBERON_2002067	Anatomical cluster including hypural 3 and more dorsal hypurals that supports the dorsal series of principal caudal lepidotrichia or rays. The upper hypural set articulates or fuses to ural centra 3, 4 or 5 (polyural terminology) or ural centrum 2 (diural terminology) depending on the teleost subgroup. The upper hypural set is composed of unpaired median bones.	
MONDO:0010835	pterygium colli-intellectual disability-digital anomalies syndrome	biolink:Disease	mondo	GARD:0004568|OMIM:600159|ICD10:Q87.0|MESH:C535831|SCTID:719256004|Orphanet:2988|UMLS:C1838562	ordo_malformation_syndrome	khalifa-Graham syndrome|pterygium colli mental retardation digital anomalies|pterygium colli and intellectual disability with facial and digital anomalies|pterygium colli intellectual disability digital anomalies|pterygium colli and mental retardation with facial and digital anomalies	http://purl.obolibrary.org/obo/MONDO_0010835	Pterygium colli-intellectual disability-digital anomalies syndrome is characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant.	http://identifiers.org/omim/600159|ORPHA:2988|SNOMEDCT:719256004|UMLS:C1838562|MESH:C535831
MONDO:0009842	Pelger-Huet-like anomaly and episodic fever with abdominal pain	biolink:Disease	mondo	MESH:C564899|OMIM:260570|UMLS:C1850054		Pelger-Huet-like anomaly and episodic fever with abdominal pain	http://purl.obolibrary.org/obo/MONDO_0009842		MESH:C564899|UMLS:C1850054|http://identifiers.org/omim/260570
MONDO:0009841	PEHO syndrome	biolink:Disease	mondo	UMLS:C1850055|ICD10:G31.8|DOID:0080539|GARD:0004264|MESH:C536317|Orphanet:2836|OMIM:260565	ordo_disease|gard_rare	progressive encephalopathy with edema, hypsarrhythmia and optic atrophy|peho|infantile Cerebellooptic atrophy|peho syndrome|peho-like syndrome|peho syndrome; peho|progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy|progressive encephalopathy-optic atrophy syndrome	http://purl.obolibrary.org/obo/MONDO_0009841	PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.	UMLS:C0796122|UMLS:C1850055|ORPHA:2836|DOID:0080539|MESH:C536317|http://identifiers.org/omim/260565
MONDO:0010834	HSCR5	biolink:Disease	mondo	OMIM:600156	predisposition	HSCR5|Hirschsprung disease, susceptibility to, 5|Hirschsprung disease, susceptibility to, 5; HSCR5	http://purl.obolibrary.org/obo/MONDO_0010834		http://identifiers.org/omim/600156
CHEBI:33836	benzenoid aromatic compound	biolink:ChemicalSubstance	mondo			benzenoid aromatic compounds|benzenoid compound	http://purl.obolibrary.org/obo/CHEBI_33836		
MONDO:0010837	primary hyperparathyroidism (disease)	biolink:Disease	mondo	GARD:0008612|DOID:11202|ICD10:E21.0|NCIT:C48280|SCTID:36348003|EFO:0008519|HP:0008200|COHD:136934|ICD9:252.01|MESH:D049950		primary hyperparathyroidism|familial benign hypercalcemia|familial primary hyperparathyroidism	http://purl.obolibrary.org/obo/MONDO_0010837	Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones.	DOID:11202|SNOMEDCT:36348003|NCIT:C48280|MESH:D049950
CHEBI:33837	conjugated protein	biolink:ChemicalSubstance	mondo			complex protein|conjugated proteins	http://purl.obolibrary.org/obo/CHEBI_33837	Conjugated protein is a protein that contains a non-peptide component, usually in stoichiometric proportion.	
MONDO:0009840	Partington-Anderson syndrome	biolink:Disease	mondo	OMIM:260555|MESH:C536299|UMLS:C1850075|Orphanet:2829|UMLS:CN202825		Partington-Anderson syndrome	http://purl.obolibrary.org/obo/MONDO_0009840		UMLS:C1850075|UMLS:CN202825|ORPHA:2829|MESH:C536299|http://identifiers.org/omim/260555
MONDO:0010836	NNO1	biolink:Disease	mondo	UMLS:C1838502|MESH:C563983|OMIM:600165		NNO1|nanophthalmos 1; NNO1|nanophthalmos, autosomal dominant|Nanophthalmia 1|nanophthalmos with high hyperopia and angle-closure glaucoma|microphthalmos, simple, autosomal dominant|nanophthalmos 1	http://purl.obolibrary.org/obo/MONDO_0010836		MESH:C563983|http://identifiers.org/omim/600165|UMLS:C1838502
CHEBI:33839	macromolecule	biolink:ChemicalSubstance	mondo			polymer molecule|macromolecule|polymers|macromolecules|polymer	http://purl.obolibrary.org/obo/CHEBI_33839	A macromolecule is a molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass.	
MONDO:0010839	autosomal dominant congenital benign spinal muscular atrophy	biolink:Disease	mondo	DOID:0111215|ICD10:G12.2|SCTID:763067000|Orphanet:1216|MESH:C563981|OMIM:600175|UMLS:C1838492	ordo_disease	autosomal dominant benign distal spinal muscular atrophy|neuronopathy, distal hereditary motor, type VIII|spinal muscular atrophy, distal, congenital nonprogressive|congenital nonprogressive spinal muscular atrophy|spinal muscular atrophy, congenital benign, with contractures|congenital benign spinal muscular atrophy with contractures|neuronopathy, distal hereditary motor, type VIII; HMN8|neuronopathy, distal hereditary motor, type 8|neuropathy, distal hereditary motor, type 8|HMN8	http://purl.obolibrary.org/obo/MONDO_0010839	Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated.	MESH:C563981|SNOMEDCT:763067000|http://identifiers.org/omim/600175|ORPHA:1216|DOID:0111215|UMLS:C1838492
UBERON:2002068	lower hypural set	biolink:AnatomicalEntity	mondo			lower hypurals	http://purl.obolibrary.org/obo/UBERON_2002068	Anatomical cluster including hypurals 1 and 2 that supports part of the ventral principal caudal lepidotrichia or rays and that separates from the dorsal hypural set through the hypural diastema. The lower hypural set articulates or fuses to ural centra 1 and 2 (polyural terminology) or ural centrum 1 (diural terminology) depending on the teleost subgroup. The lower hypural set is composed of unpaired median bones.	
MONDO:0010838	gonadal agenesis	biolink:Disease	mondo	OMIM:600171|NCIT:C27228		gonadal agenesis	http://purl.obolibrary.org/obo/MONDO_0010838	A congenital disorder characterized by the complete absence of gonadal tissue.	http://identifiers.org/omim/600171|NCIT:C27228
MONDO:0022819	congenital arteriovenous shunt	biolink:Disease	mondo	GARD:0006150	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022819		
HGNC:2230	COPA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2230		
HGNC:4893	HGF	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4893		
MONDO:0010840	pachygyria-intellectual disability-epilepsy syndrome	biolink:Disease	mondo	GARD:0000409|OMIM:600176|SCTID:763861000|Orphanet:2798|MESH:C538091|UMLS:C1838491|ICD10:G40.4	ordo_malformation_syndrome	pachygyria with mental retardation and seizures|pachygyria with intellectual disability and seizures|Kuzniecky syndrome|pachygyria, intellectual disability and epilepsy|pachygyria with mental retardation, seizures, and arachnoid cysts|pachygyria with intellectual disability, seizures, and arachnoid cysts|pachygyria, mental retardation and epilepsy	http://purl.obolibrary.org/obo/MONDO_0010840	Pachygyria-intellectual disability-epilepsy syndrome is a rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated.	MESH:C538091|http://identifiers.org/omim/600176|ORPHA:2798|UMLS:C1838491|SNOMEDCT:763861000
MONDO:0010842	multiple cutaneous and mucosal venous malformations	biolink:Disease	mondo	MESH:C563977|ICD10:Q27.8|OMIM:600195|Orphanet:2451|DOID:0050792|SCTID:699301008	ordo_malformation_syndrome	cutaneous and mucosal venous malformation|VMCM|mucocutaneous venous malformations|Vmcm1|VENOUS malformations, multiple cutaneous and mucosal|VENOUS malformations, multiple cutaneous and mucosal; VMCM	http://purl.obolibrary.org/obo/MONDO_0010842	Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa.	http://identifiers.org/omim/600195|ORPHA:2451|DOID:0050792|SNOMEDCT:699301008|MESH:C563977
CHEBI:33832	organic cyclic compound	biolink:ChemicalSubstance	mondo			organic cyclic compounds	http://purl.obolibrary.org/obo/CHEBI_33832	Any organic molecule that consists of atoms connected in the form of a ring.	
MONDO:0010841	Waardenburg syndrome type 2B	biolink:Disease	mondo	DOID:0110947|OMIM:600193|GARD:0005522|MESH:C536465|UMLS:C1838447	gard_rare	Waardenburg syndrome, type 2B|Waardenburg syndrome type IIB|WS2B|Waardenburg syndrome, type 2B; WS2B	http://purl.obolibrary.org/obo/MONDO_0010841		http://identifiers.org/omim/600193|MESH:C536465|UMLS:C1838447|DOID:0110947
MONDO:0022812	complement receptor deficiency	biolink:Disease	mondo	SCTID:234628004|UMLS:C0398783|GARD:0009527|ICD9:279.8	gard_rare	complement receptor deficiency	http://purl.obolibrary.org/obo/MONDO_0022812	A disorder with basis in disruption of a complement receptor.	SNOMEDCT:234628004|UMLS:C0398783
HGNC:2235	KLF6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2235		
MONDO:0022815	congenital absence of the sternocleidomastoid muscle	biolink:Disease	mondo	UMLS:C2931075|GARD:0009972|MESH:C535977	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022815		MESH:C535977|UMLS:C2931075
MONDO:0022817	congenital amputation	biolink:Disease	mondo	GARD:0001471	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022817		
HGNC:4892	HGD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4892		
MONDO:0022818	congenital aneurysms of the great vessels	biolink:Disease	mondo	GARD:0001472	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022818		
MONDO:0010829	CARASIL syndrome	biolink:Disease	mondo	MESH:C563990|DOID:13945|ICD10:F01.1|Orphanet:199354|GARD:0010424|SCTID:703219008|UMLS:C1838577|OMIM:600142	ordo_disease	cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy|Maeda syndrome|cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy|cerebrovascular disease with thin skin, alopecia, and disc disease|cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy; CARASIL|CARASIL|subcortical vascular encephalopathy, progressive	http://purl.obolibrary.org/obo/MONDO_0010829	CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.	UMLS:C1838577|ORPHA:199354|DOID:13945|MESH:C563990|http://identifiers.org/omim/600142|SNOMEDCT:703219008
MONDO:0009859	PHAVER syndrome	biolink:Disease	mondo	OMIM:261575|GARD:0004465|MESH:C538357|UMLS:C1849928|ICD10:Q87.8|SCTID:723453002|Orphanet:2876	ordo_malformation_syndrome|gard_rare	PHAVER syndrome|Powell-Chandra-Saal syndrome|pterygia heart defects autosomal recessive inheritance vertebral defects Ear anomalies and radial defects	http://purl.obolibrary.org/obo/MONDO_0009859	Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects.	SNOMEDCT:723453002|UMLS:C1849928|MESH:C538357|ORPHA:2876|http://identifiers.org/omim/261575
MONDO:0009858	Pfeiffer-Palm-Teller syndrome	biolink:Disease	mondo	OMIM:261560|SCTID:726672000|UMLS:C1849929|ICD10:Q87.1|MESH:C537889|Orphanet:2871|GARD:0004305	ordo_malformation_syndrome|gard_rare	short stature unique facies enamel hypoplasia progressive joint stiffness and high-pitched voice|short stature, unique facies, enamel hypoplasia, progressive Joint stiffness, and high-pitched voice|Pfeiffer-Palm-Teller syndrome|Pfeiffer Palm Teller syndrome|PPT syndrome	http://purl.obolibrary.org/obo/MONDO_0009858	Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit.	UMLS:C1849929|SNOMEDCT:726672000|ORPHA:2871|http://identifiers.org/omim/261560|MESH:C537889
MONDO:0009857	persistent Mullerian duct syndrome	biolink:Disease	mondo	DOID:0050791|GARD:0008435|UMLS:C1849930|Orphanet:2856|ICD10:Q55.8|OMIM:261550|SCTID:702358005|NCIT:C120188|ICD9:752.89|MESH:C536665	gard_rare|ordo_malformation_syndrome	female genital ducts in otherwise normal Male|persistent MULLERIAN duct syndrome, types I and II|persistent Mullerian derivatives|pseudohermaphroditism, Male internal|PMDS|female genital ducts in otherwise normal male|persistent oviduct syndrome|persistent Muellerian duct syndrome|persistent Müllerian derivatives|persistent mullerian duct syndrome, types 1 and 2|persistent MULLERIAN duct syndrome, types I and II; PMDS|persistent Müllerian duct syndrome|hernia uteri inguinale	http://purl.obolibrary.org/obo/MONDO_0009857	Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys.	MESH:C536665|DOID:0050791|UMLS:C1849930|SNOMEDCT:702358005|NCIT:C120188|ORPHA:2856|http://identifiers.org/omim/261550
MONDO:0022810	Combarros Calleja Leno syndrome	biolink:Disease	mondo	GARD:0001449	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022810		
MONDO:0009856	Peters plus syndrome	biolink:Disease	mondo	ICD9:743.44|OMIM:261540|UMLS:C0796012|Orphanet:709|SCTID:449817000|GARD:0008422|NCIT:C123436|ICD10:Q13.4|MESH:C537617|DOID:0070312|DOID:0080201	gard_rare|ordo_malformation_syndrome	Peters anomaly with short limb dwarfism|Peters anomaly with short-limb dwarfism|Krause-van Schooneveld-Kivlin syndrome|Krause-Kivlin syndrome|Peters-plus syndrome|Peters anomaly-short limb dwarfism syndrome	http://purl.obolibrary.org/obo/MONDO_0009856	Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.	SNOMEDCT:449817000|UMLS:C0796012|DOID:0070312|NCIT:C123436|DOID:0080201|http://identifiers.org/omim/261540|MESH:C537617|ORPHA:709
MONDO:0009855	d-bifunctional protein deficiency	biolink:Disease	mondo	DOID:0090031|SCTID:238068007|ICD10:E71.3|UMLS:C1533628|ICD9:277.6|Orphanet:300|UMLS:C0342870|GARD:0004539|OMIM:261515|NCIT:C119676|UMLS:CN203333	gard_rare|ordo_disease	peroxisomal multifunctional enzyme deficiency|17-Beta-hydroxysteroid dehydrogenase 4 deficiency|D-bifunctional enzyme deficiency|bifunctional enzyme deficiency|peroxisomal multifunctional enzyme (MFE2) deficiency|17-BETA-hydroxysteroid dehydrogenase IV deficiency|peroxisomal bifunctional enzyme deficiency|pseudo-Zellweger syndrome|multifunctional enzyme deficiency|d-bifunctional protein deficiency|Pbfe deficiency|DBP deficiency	http://purl.obolibrary.org/obo/MONDO_0009855	D-bifunctional protein deficiency (DBP deficiency)is a genetic disorder that affects the ability of the body to effectively break down fat from our diet. It is typically characterized by hypotonia (low muscle tone) and seizures in the newborn period. Other symptoms include unusual facial features and an enlarged liver (hepatomegaly). Most babies with this condition nevergain anydevelopmental skills and do not survive past the age of 2. DBP deficiency is caused by mutations in the HSD17B4 gene and is inherited in an autosomal recessive manner. Some researchers have suggested classifying DBP deficiency into three subtypes, depending on how severely the mutation in the HSD17B4 gene affects the function of the gene and the protein that it codes for. Almost all individuals with types I, II, and III have similar signs and symptoms. A fourth subtype has additionally been proposed for individuals that have less severe symptoms. While there is no cure for DBP deficiency, treatment is focused on improving nutrition and growth, controlling symptoms, and limiting the progression of liver disease.	UMLS:C0342870|UMLS:C1533628|UMLS:CN203333|NCIT:C119676|SNOMEDCT:238068007|ORPHA:300|http://identifiers.org/omim/261515|MESH:C536663|DOID:0090031
MONDO:0010822	Warburg micro syndrome 1	biolink:Disease	mondo	ICD10:Q87.0|DOID:0110716|OMIM:600118		micro syndrome 1|Warburg micro syndrome caused by mutation in RAB3GAP1|WARBURG micro syndrome 1; WARBM1|Warburg micro syndrome 1|micro syndrome|Warburg micro syndrome type 1|RAB3GAP1 Warburg micro syndrome|WARBM1	http://purl.obolibrary.org/obo/MONDO_0010822	Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP1 gene.	http://identifiers.org/omim/600118|DOID:0110716
MONDO:0010821	familial developmental dysphasia	biolink:Disease	mondo	SCTID:721220004|OMIM:600117|Orphanet:1799|MESH:C563997|GARD:0001823|UMLS:C1838630|ICD10:F80.1	gard_rare|ordo_clinical_syndrome	specific language impairment|Billard-Toutain-Maheut syndrome|developmental language disorder|dysphasia, familial developmental|developmental dysphasia familial|FOXP2-associated dysphasia	http://purl.obolibrary.org/obo/MONDO_0010821	Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal.	MESH:C563997|SNOMEDCT:721220004|http://identifiers.org/omim/600117|ORPHA:1799|UMLS:C1838630
MONDO:0009854	peroneus tertius muscle, absence of	biolink:Disease	mondo	OMIM:261400		peroneus tertius muscle, absence of	http://purl.obolibrary.org/obo/MONDO_0009854		http://identifiers.org/omim/261400
MONDO:0009853	Imerslund-Grasbeck syndrome	biolink:Disease	mondo	SCTID:360495000|GARD:0007006|OMIMPS:261100|ICD10:D51.1|Orphanet:35858|ICD9:281.3	ordo_disease	Gräsbeck-Imerslund disease|enterocyte cobalamin malabsorption|defect of enterocyte intrinsic factor receptor|selective cobalamin malabsorption with proteinuria|juvenile megaloblastic Anemia|Imerslund-Grasbeck syndrome|Imerslund-Gräsbeck syndrome|familial megaloblastic anemia	http://purl.obolibrary.org/obo/MONDO_0009853	Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood.	ORPHA:35858|SNOMEDCT:360495000
MONDO:0010824	disorder of sex development-intellectual disability syndrome	biolink:Disease	mondo	Orphanet:2983|ICD10:Q56.3|MESH:C535693|SCTID:719450007|GARD:0004550|OMIM:600122	ordo_disease	Verloes-Gillerot-Fryns syndrome|pseudohermaphroditism-intellectual disability syndrome|Verloes syndrome|male pseudohermaphroditism/intellectual disability syndrome, Verloes type|disorder of sex development intellectual disability|Verloes Gillerot Fryns syndrome|male pseudohermaphroditism/mental retardation syndrome, Verloes type|Male pseudohermaphroditism intellectual disability syndrome, Verloes type	http://purl.obolibrary.org/obo/MONDO_0010824	Verloes-Gillerot-Fryns syndrome is a rare association of malformations.	SNOMEDCT:719450007|http://identifiers.org/omim/600122|ORPHA:2983|MESH:C535693
MONDO:0009852	congenital intrinsic factor deficiency	biolink:Disease	mondo	ICD10:D51.0|SCTID:34925000|MedDRA:10070440|GARD:0003024|DOID:0050734|ICD9:281.3|OMIM:261000|Orphanet:332|MESH:C563242	ordo_disease	intrinsic factor, congenital deficiency of|intrinsic factor deficiency|congenital pernicious anemia due to defect of intrinsic factor|IFD|congenital pernicious anemia|pernicious Anemia, congenital, due to defect of intrinsic Factor|intrinsic factor deficiency; IFD|gastric intrinsic factor deficiency|intrinsic factor deficiency|hereditary intrinsic factor deficiency|hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency	http://purl.obolibrary.org/obo/MONDO_0009852	Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.	MESH:C563242|UMLS:C0340957|SNOMEDCT:34925000|MEDDRA:10070440|http://identifiers.org/omim/261000|ORPHA:332|DOID:0050734
MONDO:0010823	rhizomelic chondrodysplasia punctata type 3	biolink:Disease	mondo	UMLS:C1838612|MESH:C537608|GARD:0009682|OMIM:600121|Orphanet:309803|ICD10:Q77.3|DOID:0110853	ordo_etiological_subtype|gard_rare	RCDP3|rhizomelic chondrodysplasia punctata, type 3; RCDP3|Alkyglycerone-phosphate synthase deficiency|Rcdp3|AGPS rhizomelic chondrodysplasia punctata|alkylglycerone-phosphate synthase deficiency|Agps deficiency|alkyldihydroxyacetonephosphate synthase deficiency|rhizomelic chondrodysplasia punctata, type 3|rhizomelic chondrodysplasia punctata caused by mutation in AGPS	http://purl.obolibrary.org/obo/MONDO_0010823	Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene.	DOID:0110853|ORPHA:309803|http://identifiers.org/omim/600121|MESH:C537608|UMLS:C1838612
CHEBI:33847	monocyclic arene	biolink:ChemicalSubstance	mondo			monocyclic arenes	http://purl.obolibrary.org/obo/CHEBI_33847	A monocyclic aromatic hydrocarbon.	
CHEBI:33848	polycyclic arene	biolink:ChemicalSubstance	mondo			polycyclic arenes|polycyclic aromatic hydrocarbons|PAHs|PAH	http://purl.obolibrary.org/obo/CHEBI_33848	A polycyclic aromatic hydrocarbon.	
MONDO:0010826	childhood absence epilepsy	biolink:Disease	mondo	ICD10:G40.A|DOID:1825|OMIMPS:600131|SCTID:50866000|Orphanet:64280|ICD10:G40.3	predisposition|ordo_disease	pyknolepsy|petit mal seizure|absence seizure	http://purl.obolibrary.org/obo/MONDO_0010826	Childhood absence epilepsy (CAE) is a familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis.	ORPHA:64280|DOID:1825|SNOMEDCT:50866000|NCIT:C50436
MONDO:0009851	peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain	biolink:Disease	mondo	OMIM:260970|MESH:C564894|UMLS:C1850022		peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain	http://purl.obolibrary.org/obo/MONDO_0009851		MESH:C564894|UMLS:C1850022|http://identifiers.org/omim/260970
MONDO:0009850	periodontitis, chronic, adult	biolink:Disease	mondo	UMLS:C0266929|OMIM:260950|SCTID:74797001		periodontitis, adult|periodontitis, chronic	http://purl.obolibrary.org/obo/MONDO_0009850		SNOMEDCT:74797001|UMLS:C0266929|http://identifiers.org/omim/260950
MONDO:0010825	atrioventricular defect-blepharophimosis-radial and anal defect syndrome	biolink:Disease	mondo	Orphanet:1352|OMIM:600123|UMLS:C1838606|MESH:C563994|ICD10:Q87.8	ordo_malformation_syndrome	atrioventricular septal defect with blepharophimosis and anal and radial defects|Houlston-Ironton-Temple syndrome	http://purl.obolibrary.org/obo/MONDO_0010825	Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.	MESH:C563994|http://identifiers.org/omim/600123|ORPHA:1352|UMLS:C1838606
MONDO:0010828	retinitis pigmentosa 11	biolink:Disease	mondo	GARD:0010383|OMIM:600138|ICD10:H35.5|DOID:0110408|UMLS:C1838601|MESH:C563991	gard_rare	PRPF31 retinitis pigmentosa|RP11|retinitis pigmentosa caused by mutation in PRPF31|retinitis pigmentosa 11; RP11|retinitis pigmentosa type 11|retinitis pigmentosa 11|RP 11	http://purl.obolibrary.org/obo/MONDO_0010828	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF31 gene.	UMLS:C1838601|DOID:0110408|MESH:C563991|http://identifiers.org/omim/600138
MONDO:0010827	retinitis pigmentosa 14	biolink:Disease	mondo	GARD:0010385|UMLS:C1838603|ICD10:H35.5|OMIM:600132|DOID:0110381	gard_rare	retinitis pigmentosa caused by mutation in TULP1|retinitis pigmentosa type 14|RP14|retinitis pigmentosa 14|TULP1 retinitis pigmentosa|RP 14|retinitis pigmentosa 14; RP14	http://purl.obolibrary.org/obo/MONDO_0010827	Any retinitis pigmentosa in which the cause of the disease is a mutation in the TULP1 gene.	DOID:0110381|UMLS:C1838603|http://identifiers.org/omim/600132
MONDO:0022808		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0022808		
MONDO:0022809	Colver Steer Godman syndrome	biolink:Disease	mondo	GARD:0001448	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022809		
MONDO:0010831	familial caudal dysgenesis	biolink:Disease	mondo	ICD10:Q87.8|GARD:0000215|NCIT:C99054|SCTID:722493007|OMIM:600145|GARD:0004751|Orphanet:1768	ordo_malformation_syndrome|gard_rare	sacral agenesis|Sdam|caudal regression|SDAM|familial caudal dysgenesis|caudal dysgenesis syndrome|Rudd-Klimek syndrome|caudal dysgenesis familial type|sacral defect with anterior meningocele|caudal regression syndrome|sirenomelia	http://purl.obolibrary.org/obo/MONDO_0010831	Familial caudal dysgenesis is a rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies.	http://identifiers.org/omim/600145|ORPHA:1768|NCIT:C99054|SNOMEDCT:722493007
CHEBI:33842	aromatic annulene	biolink:ChemicalSubstance	mondo			aromatic annulenes	http://purl.obolibrary.org/obo/CHEBI_33842		
MONDO:0010830	neuronal ceroid lipofuscinosis 8	biolink:Disease	mondo	SCTID:703526007|Orphanet:228354|ICD10:E75.4|OMIM:600143|DOID:0110723	ordo_etiological_subtype	CLN8|neuronal ceroid lipofuscinosis type 8|ceroid lipofuscinosis, neuronal, 8|ceroid lipofuscinosis, neuronal, 8; CLN8|CLN8|ceroid lipofuscinosis, neuronal, type 8|CLN8 disease|CLN8 neuronal ceroid lipofuscinosis|neuronal ceroid lipofuscinosis caused by mutation in CLN8	http://purl.obolibrary.org/obo/MONDO_0010830	Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene.	ORPHA:228354|http://identifiers.org/omim/600143|SNOMEDCT:703526007|DOID:0110723
MONDO:0022800	collagenopathy type 2 alpha 1	biolink:Disease	mondo	HGNC:2200|GARD:0009246|UMLS:C2931073|MESH:C535964	gard_rare	COL2A1 disease or disorder|collagen II|COL2A1|disease or disorder caused by mutation in COL2A1|cartilage collagen	http://purl.obolibrary.org/obo/MONDO_0022800	Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene.	MESH:C535964|UMLS:C2931073
MONDO:0022802	Collins-Sakati syndrome	biolink:Disease	mondo	GARD:0001429	gard_rare	Collins Sakati syndrome	http://purl.obolibrary.org/obo/MONDO_0022802		
MONDO:0022803	coloboma porencephaly hydronephrosis	biolink:Disease	mondo	GARD:0001439	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022803		
MONDO:0022804	colobomata unilobar lung heart defect	biolink:Disease	mondo	GARD:0001442	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022804		
HP:0002186	Apraxia	biolink:PhenotypicFeature	mondo	UMLS:C0003635|MSH:D001072|SNOMEDCT_US:68345001|SNOMEDCT_US:6950007		Apraxias	http://purl.obolibrary.org/obo/HP_0002186	A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.	
HGNC:20914	BLOC1S3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20914		
HP:0100737	Abnormal hard palate morphology	biolink:PhenotypicFeature	mondo	UMLS:C4021983		Abnormality of the hard palate|Abnormality of the secondary palate	http://purl.obolibrary.org/obo/HP_0100737		
MONDO:0022805	colonic malakoplakia	biolink:Disease	mondo	GARD:0006137	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022805		
HGNC:2244	COQ7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2244		
HP:0002185	Neurofibrillary tangles	biolink:PhenotypicFeature	mondo	MSH:D016874|SNOMEDCT_US:85775002|UMLS:C0085400		Neurofibrillary tangles composed of disordered microtubules in neurons|Paired helical filaments	http://purl.obolibrary.org/obo/HP_0002185	Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.	
MONDO:0010819	Stargardt disease 3	biolink:Disease	mondo	OMIM:600110|MESH:C535805|UMLS:C1838644		Stargardt disease 3|Stargardt disease type 3|STGD3|macular dystrophy with flecks, type 3|Stargardt disease 3; STGD3|Stargardt-like macular dystrophy, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0010819		UMLS:C1838644|MESH:C535805|http://identifiers.org/omim/600110
MONDO:0010818	retinitis pigmentosa 12	biolink:Disease	mondo	GARD:0010376|DOID:0110358|MESH:C563999|OMIM:600105|UMLS:C1838647|ICD10:H35.5	gard_rare	retinitis pigmentosa 12|RP with or without Pprpe|RP 12|retinitis pigmentosa with or without Paraarteriolar preservation of retinal pigment epithelium|retinitis pigmentosa type 12|RP with or without preserved Paraarteriole retinal pigment epithelium|RP12|retinitis pigmentosa 12; RP12|CRB1 retinitis pigmentosa|retinitis pigmentosa caused by mutation in CRB1	http://purl.obolibrary.org/obo/MONDO_0010818	Any retinitis pigmentosa in which the cause of the disease is a mutation in the CRB1 gene.	UMLS:C1838647|DOID:0110358|MESH:C563999|http://identifiers.org/omim/600105
MONDO:0009829	pallidal degeneration, progressive, with retinitis pigmentosa	biolink:Disease	mondo	MESH:C564910|UMLS:C1850101|OMIM:260200		pallidal degeneration, progressive, with retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0009829		http://identifiers.org/omim/260200|MESH:C564910|UMLS:C1850101
MONDO:0009828	palant cleft palate syndrome	biolink:Disease	mondo	OMIM:260150|MESH:C538102|GARD:0004198|UMLS:C1850102	gard_rare	unusual facies, cleft palate, intellectual disability, and limb abnormalities|unusual facies, cleft palate, mental retardation, and limb abnormalities|Palant cleft palate syndrome	http://purl.obolibrary.org/obo/MONDO_0009828		MESH:C538102|http://identifiers.org/omim/260150|UMLS:C1850102
MONDO:0009827	pachyonychia congenita, autosomal recessive	biolink:Disease	mondo	OMIM:260130|MESH:C538094|UMLS:C1850103	speculative	pachyonychia congenita, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009827		http://identifiers.org/omim/260130|UMLS:C1850103|MESH:C538094
MONDO:0009826	PA polymorphism of alpha-2-globulin	biolink:Disease	mondo	OMIM:260100		PA polymorphism of alpha-2-globulin|Alpha-2-globulin polymorphism Pa	http://purl.obolibrary.org/obo/MONDO_0009826		http://identifiers.org/omim/260100
MONDO:0009825	5-oxoprolinase deficiency (disease)	biolink:Disease	mondo	GARD:0005681|UMLS:C0268525|MESH:C535322|OMIM:260005|HP:0040142|SCTID:26132002|Orphanet:33572|ICD9:270.8|ICD10:E72.8	ordo_disease	inborn 5-oxoprolinase (ATP-hydrolyzing) activity disorder|oxoprolinuria due to oxoprolinase deficiency|oxoprolinuria due to 5-oxoprolinase deficiency|5-oxoprolinase deficiency; OPLAHD|rare inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity|5-alpha-oxoprolinase deficiency|inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity|5-oxoprolinase deficiency|rare inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity|OPLAHD	http://purl.obolibrary.org/obo/MONDO_0009825	5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria.	http://identifiers.org/omim/260005|SNOMEDCT:26132002|MESH:C535322|UMLS:C0268525|ORPHA:33572
MONDO:0009824	primary hyperoxaluria type 2	biolink:Disease	mondo	SCTID:40951006|MESH:C536415|ICD10:E74.8|OMIM:260000|Orphanet:93599|ICD9:271.8|DOID:0111671|NCIT:C123213|GARD:0002836|UMLS:C0268165	gard_rare|ordo_clinical_subtype	GRHPR primary hyperoxaluria|glyoxylate reductase/hydroxypyruvate reductase deficiency|primary hyperoxaluria caused by mutation in GRHPR|glyceric aciduria|hyperoxaluria, primary, type II; HP2|hyperoxaluria, primary, type 2|D-glycerate dehydrogenase deficiency|HP2|Oxalosis 2|L-glyceric aciduria|hyperoxaluria, primary, type II|primary hyperoxaluria type II	http://purl.obolibrary.org/obo/MONDO_0009824	Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis.	SNOMEDCT:40951006|http://identifiers.org/omim/260000|MESH:C536415|DOID:0111671|UMLS:C0268165|NCIT:C123213|ORPHA:93599
MONDO:0009823	primary hyperoxaluria type 1	biolink:Disease	mondo	MESH:C536414|SCTID:65520001|UMLS:C0268164|ICD10:E74.8|OMIM:259900|ICD9:271.8|Orphanet:93598|NCIT:C123212|DOID:0111670|GARD:0002835	gard_rare|ordo_clinical_subtype	hepatic AGT deficiency|hyperoxaluria, primary, type I|peroxisomal alanine:glyoxylate aminotransferase deficiency|glycolic aciduria|serine pyruvate aminotransferase deficiency|hyperoxaluria, primary, type 1|alanine-glyoxylate aminotransferase deficiency|peroxisomal alanine-glyoxylate aminotransferase deficiency|hyperoxaluria, primary, type I; HP1|AGXT primary hyperoxaluria|Oxalosis 1|HP1|primary hyperoxaluria type I|peroxisomal alanine glyoxylate aminotransferase deficiency|serine:pyruvate aminotransferase deficiency|primary hyperoxaluria caused by mutation in AGXT	http://purl.obolibrary.org/obo/MONDO_0009823	Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement.	MESH:C536414|DOID:0111670|ORPHA:93598|NCIT:C123212|SNOMEDCT:65520001|UMLS:C0268164|http://identifiers.org/omim/259900
MONDO:0010811	benign prostatic hyperplasia (disease)	biolink:Disease	mondo	ICD9:600.20|EFO:0000284|ICD9:600|NCIT:C2897|OMIM:600082|COHD:198803|HP:0008711|SCTID:266569009|UMLS:C1704272|DOID:11132|MESH:D011470|ICD9:600.0		prostatic hypertrophy|benign prostatic hyperplasia|benign hyperplasia of prostate|benign hyperplasia of the prostate|BPH|benign prostate hyperplasia|prostate hypertrophy|prostatic hyperplasia, benign|benign prostatic Hypertrophy|benign prostatic hypertrophy|prostatic hyperplasia, benign; BPH|benign prostatic hyperplasia - BPH	http://purl.obolibrary.org/obo/MONDO_0010811	A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow.	UMLS:C1704272|DOID:11132|SNOMEDCT:266569009|http://identifiers.org/omim/600082|NCIT:C2897|MESH:D011470
MONDO:0009822	otoonychoperoneal syndrome	biolink:Disease	mondo	GARD:0004170|OMIM:259780|SCTID:441944007|ICD10:Q87.5|Orphanet:2793|ICD9:759.89|MESH:C564912|UMLS:C1850105	gard_rare|ordo_malformation_syndrome	oto-onycho-peroneal syndrome|otoonychoperoneal syndrome	http://purl.obolibrary.org/obo/MONDO_0009822		ORPHA:2793|UMLS:C2711794|MESH:C564912|SNOMEDCT:441944007|UMLS:C1850105|http://identifiers.org/omim/259780
MONDO:0010810	vitamin D hydroxylation-deficient rickets, type 1B	biolink:Disease	mondo	UMLS:C1838657|OMIM:600081|MESH:C564005|NCIT:C131074		vitamin D 25-Hydroxylase deficiency|vitamin D hydroxylation-deficient rickets type 1b|vitamin D hydroxylation-deficient rickets, type 1B|VDDR1B|vitamin D-dependent rickets, type 1B|Vitam D hydroxylation-deficient rickets type 1b|25-Hydroxyvitamin D3 deficiency, selective|vitamin D-dependent rickets, type 1 caused by mutation in CYP2R1|Pseudovitamin D3 deficiency rickets due to 25-Hydroxylase deficiency|CYP2R1 vitamin D-dependent rickets, type 1|vitamin D hydroxylation-deficient rickets, type 1B; VDDR1B	http://purl.obolibrary.org/obo/MONDO_0010810	An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets.	http://identifiers.org/omim/600081|NCIT:C131074|MESH:C564005|UMLS:C1838657
MONDO:0009821	lethal osteosclerotic bone dysplasia	biolink:Disease	mondo	Orphanet:1832|UMLS:C1850106|OMIM:259775|MESH:C535282|ICD10:Q78.2|GARD:0000282	ordo_malformation_syndrome	RAINE syndrome|RNS|osteosclerotic bone dysplasia, lethal|Raine syndrome|RAINE syndrome; RNS|combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis	http://purl.obolibrary.org/obo/MONDO_0009821	Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.	ORPHA:1832|MESH:C535282|UMLS:C1850106|http://identifiers.org/omim/259775
MONDO:0010813	pancreatic beta cell agenesis with neonatal diabetes mellitus	biolink:Disease	mondo	OMIM:600089|MESH:C538111|UMLS:C1838655|Orphanet:28455		pancreatic beta cell agenesis with neonatal diabetes mellitus	http://purl.obolibrary.org/obo/MONDO_0010813		UMLS:C1838655|MESH:C538111|http://identifiers.org/omim/600089|ORPHA:28455
MONDO:0009820	osteoporosis-pseudoglioma syndrome	biolink:Disease	mondo	UMLS:C0432252|OMIM:259770|NCIT:C130998|DOID:0060849|Orphanet:2788|MESH:C536063|MedDRA:10052452|ICD10:Q87.5|GARD:0004160	ordo_disease|gard_rare	osteoporosis pseudoglioma syndrome|OPPG|Ops|ocular form of osteogenesis imperfecta|pseudoglioma with bone fragility|osteoporosis-pseudoglioma syndrome|osteogenesis imperfecta ocular form|osteoporosis-pseudoglioma syndrome; OPPG|osteogenesis imperfecta, ocular form	http://purl.obolibrary.org/obo/MONDO_0009820	Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.	MESH:C536063|UMLS:C0432252|DOID:0060849|NCIT:C130998|http://identifiers.org/omim/259770|ORPHA:2788|MEDDRA:10052452
MONDO:0010812	macrocytosis, familial	biolink:Disease	mondo	UMLS:C1838656|OMIM:600084|MESH:C564004		macrocytosis, familial	http://purl.obolibrary.org/obo/MONDO_0010812		UMLS:C1838656|http://identifiers.org/omim/600084|MESH:C564004
MONDO:0010815	spondyloepiphyseal dysplasia tarda with characteristic facies	biolink:Disease	mondo	UMLS:C1838653|OMIM:600093|MESH:C564003		spondyloepiphyseal dysplasia tarda with characteristic facies	http://purl.obolibrary.org/obo/MONDO_0010815		UMLS:C1838653|http://identifiers.org/omim/600093|MESH:C564003
MONDO:0010814	chondrodysplasia-pseudohermaphroditism syndrome	biolink:Disease	mondo	ICD10:Q87.1|MESH:C536123|UMLS:C1838654|SCTID:720851007|Orphanet:1422|DOID:0060644|OMIM:600092	ordo_malformation_syndrome	Nivelon-Nivelon-Mabille syndrome|chondrodysplasia-disorder of sex development syndrome|chondrodysplasia-pseudohermaphroditism syndrome	http://purl.obolibrary.org/obo/MONDO_0010814	Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development, reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested.	UMLS:C1838654|DOID:0060644|SNOMEDCT:720851007|http://identifiers.org/omim/600092|ORPHA:1422|MESH:C536123
MONDO:0010817	autosomal dominant nonsyndromic deafness 2A	biolink:Disease	mondo	UMLS:C2677637|DOID:0110558|MESH:C567441|OMIM:600101|ICD10:H90.3		deafness, autosomal dominant 2A|deafness, autosomal dominant type 2A|deafness, autosomal dominant 2A; DFNA2A|DFNA2A|autosomal dominant nonsyndromic deafness type 2A|autosomal dominant deafness 2A|KCNQ4 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness caused by mutation in KCNQ4	http://purl.obolibrary.org/obo/MONDO_0010817	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KCNQ4 gene.	DOID:0110558|http://identifiers.org/omim/600101|MESH:C567441|UMLS:C2677637
MONDO:0010816	Qazi Markouizos syndrome	biolink:Disease	mondo	DOID:0050740|GARD:0000371|Orphanet:3010|SCTID:721887007|MESH:C536259|ICD10:Q87.8|UMLS:C2931142|OMIM:600096	ordo_disease|gard_rare	Dysharmonic skeletal maturation muscular fibre disproportion|Dysharmonic skeletal maturation-muscular fiber disproportion syndrome|Puertorican infant hypotonia syndrome|Qazi-Markouizos syndrome|hypotonia, psychomotor retardation, seizures, delayed and Dysharmonic skeletal maturation, and congenital fibre type disproportion|PUERTO RICAN infant hypotonia syndrome|Dysharmonic skeletal maturation - muscular fibre disproportion	http://purl.obolibrary.org/obo/MONDO_0010816	Qazi-Markouizos syndrome is characterised principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibres. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys.	DOID:0050740|UMLS:C2931142|ORPHA:3010|http://identifiers.org/omim/600096|MESH:C536259|SNOMEDCT:721887007
HP:0002157	Azotemia	biolink:PhenotypicFeature	mondo	UMLS:C0242528|MSH:D053099|SNOMEDCT_US:445009001		Azotaemia	http://purl.obolibrary.org/obo/HP_0002157	An increased concentration of nitrogen compounds in the blood.	
HGNC:2252	CORO1A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2252		
HP:0002156	Homocystinuria	biolink:PhenotypicFeature	mondo	UMLS:C0019880|MSH:D006712|SNOMEDCT_US:11282001		High urine homocystine levels	http://purl.obolibrary.org/obo/HP_0002156	An increased concentration of homocystine in the urine.	
MONDO:0010820	autosomal recessive juvenile Parkinson disease 2	biolink:Disease	mondo	OMIM:600116|GARD:0009642|DOID:0060368|UMLS:C1868675		PDJ|JP|autosomal recessive juvenile Parkinson disease type 2|Parkinson disease 2, autosomal recessive juvenile; PARK2|Parkinson disease autosomal recessive, early onset|Parkinsonism, early onset, with diurnal fluctuation|Parkinson disease 2, autosomal recessive juvenile|juvenile parkinsonism|PARK2|autosomal recessive juvenile Parkinson's disease 2|Parkinson disease 2|Parkinson disease, juvenile, autosomal recessive|young-onset Parkinson disease caused by mutation in PRKN|PRKN young-onset Parkinson disease|autosomal recessive juvenile Parkinson disease|Parkinsonism, early-onset, with diurnal fluctuation	http://purl.obolibrary.org/obo/MONDO_0010820	A group of disorders which feature impaired motor control characterized by bradykinesia, muscle rigidity; tremor; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see parkinson disease), secondary parkinsonism (see parkinson disease, secondary) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the basal ganglia.	http://identifiers.org/omim/600116|UMLS:C1868675|DOID:0060368
HP:0002150	Hypercalciuria	biolink:PhenotypicFeature	mondo	UMLS:C0020438|SNOMEDCT_US:71938000|MSH:D053565		Elevated urine calcium levels|Hypercalcinuria	http://purl.obolibrary.org/obo/HP_0002150		
HP:0002153	Hyperkalemia	biolink:PhenotypicFeature	mondo	MSH:D006947|UMLS:C0020461|SNOMEDCT_US:166689004|SNOMEDCT_US:238142003|SNOMEDCT_US:14140009		Elevated serum potassium levels	http://purl.obolibrary.org/obo/HP_0002153	An abnormally increased potassium concentration in the blood.	
MONDO:0010808	fatal familial insomnia	biolink:Disease	mondo	GARD:0006429|MESH:D034062|NCIT:C84711|DOID:0050433|ICD9:046.72|ICD10:A81.83|Orphanet:466|OMIM:600072|ICD10:A81.8|SCTID:83157008|MedDRA:10072077|UMLS:C0206042	gard_rare|ordo_disease	Insomnia familial fatal|fatal familial insomnia|familial fatal insomnia|Insomnia, fatal familial|FFI|fatal familial INSOMNIA; FFI	http://purl.obolibrary.org/obo/MONDO_0010808	Fatal familial insomnia (FFI) is a very rare form of prion disease characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances.	UMLS:C0206042|ORPHA:466|DOID:0050433|MESH:D034062|MEDDRA:10072077|SNOMEDCT:83157008|NCIT:C84711|http://identifiers.org/omim/600072
MONDO:0010807	autosomal recessive nonsyndromic deafness 2	biolink:Disease	mondo	UMLS:C1838701|DOID:0110477|OMIM:600060|ICD10:H90.3|MESH:C564007		autosomal recessive deafness 2|autosomal recessive nonsyndromic deafness type 2|autosomal recessive nonsyndromic deafness caused by mutation in MYO7A|neurosensory nonsyndromic recessive deafness 2|deafness, autosomal recessive 2|deafness, autosomal recessive 2; DFNB2|deafness, autosomal recessive type 2|MYO7A autosomal recessive nonsyndromic deafness|DFNB2	http://purl.obolibrary.org/obo/MONDO_0010807	Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene.	MESH:C564007|DOID:0110477|UMLS:C1838701|http://identifiers.org/omim/600060
MONDO:0009839	progressive supranuclear palsy-parkinsonism syndrome	biolink:Disease	mondo	ICD10:G23.1|Orphanet:240085|OMIM:260540|UMLS:CN201680|MESH:C537240|GARD:0004507	ordo_clinical_subtype	supranuclear palsy, progressive, 1, atypical|progressive supranuclear palsy atypical|Parkinson-dementia syndrome|PSP-p|PSP-parkinsonism|atypical PSP|Steele-Richardson-Olszewski syndrome, atypical	http://purl.obolibrary.org/obo/MONDO_0009839	PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease.	UMLS:CN201680|MESH:C537240|http://identifiers.org/omim/260540|ORPHA:240085
MONDO:0010809	familial chronic myelocytic leukemia-like syndrome	biolink:Disease	mondo	MESH:C536093|DOID:0060761|GARD:0010141|OMIM:600080|UMLS:C1838670	gard_rare	myelocytic leukemia-like syndrome, familial, chronic|familial CML-like syndrome|CML-like syndrome, familial	http://purl.obolibrary.org/obo/MONDO_0010809	A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome).	MESH:C536093|UMLS:C1838670|DOID:0060761|http://identifiers.org/omim/600080
MONDO:0009838	Parana hard-skin syndrome	biolink:Disease	mondo	OMIM:260530|MESH:C564905|ICD10:L91.8|GARD:0002598|NCIT:C126559|UMLS:C1850079|Orphanet:2812	ordo_disease	Parana hard-skin syndrome|Parana hard skin syndrome|hard skin syndrome, Parana type|hard skin syndrome Parana type|hard-skin syndrome, Parana type	http://purl.obolibrary.org/obo/MONDO_0009838	A rare disorder characterized by rigid, thick skin that covers the entire body and affects movements. The movement of the chest and abdomen is severely restricted. Affected individuals develop respiratory insufficiency which may lead to death.	ORPHA:2812|http://identifiers.org/omim/260530|NCIT:C126559|MESH:C564905|UMLS:C1850079
MONDO:0009837	choroid plexus papilloma	biolink:Disease	mondo	MedDRA:10008777|NCIT:C3698|SCTID:425868004|EFO:1000177|ICDO:9390/0|ONCOTREE:CPP|OMIM:260500|Orphanet:2807|GARD:0004214|UMLS:C0205770|DOID:2626|ICD10:D33.0|MESH:D020288	ordo_disease	childhood papilloma of choroid plexus|pediatric papilloma of choroid plexus|papilloma of choroid plexus; CPP|CPP|papilloma of choroid plexus|papilloma of the choroid plexus|childhood choroid plexus papilloma|choroid plexus papilloma|choroid plexus carcinoma|choroid plexus papilloma, no ICD-O subtype|choroid plexus papilloma NOS (morphologic abnormality)|papilloma, choroid plexus, benign	http://purl.obolibrary.org/obo/MONDO_0009837	Papilloma of the choroid plexus is a rare benign type of choroid plexus tumor, accounting for 1% of all brain tumors, often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure.	ORPHA:2807|http://identifiers.org/omim/260500|UMLS:C0205770|DOID:2626|MESH:D020288|NCIT:C3698|MEDDRA:10008777|SNOMEDCT:425868004
MONDO:0009836	pancreatitis, sclerosing cholangitis, and sicca complex	biolink:Disease	mondo	OMIM:260480|UMLS:C1850080|MESH:C564906		pancreatitis, sclerosing cholangitis, and sicca complex	http://purl.obolibrary.org/obo/MONDO_0009836		http://identifiers.org/omim/260480|MESH:C564906|UMLS:C1850080
MONDO:0009835	subacute sclerosing panencephalitis	biolink:Disease	mondo	Orphanet:2806|ICD9:046.2|EFO:0007502|MESH:D013344|NCIT:C85171|DOID:8970|COHD:373408|ICD10:A81.1|UMLS:C0038522|GARD:0007708|OMIM:260470	gard_rare|ordo_disease	panencephalitis, SUBACUTE sclerosing|Immunosuppressive measles encephalitis|Subacute sclerosing panencephalitis (disorder) [ambiguous]|SSPE|Dawson encephalitis|subacute sclerosing panencephalitis|Dawson disease|subacute sclerosing leukoencephalopathy|Subacute inclusion body encephalitis|Subacute sclerosing panencephalitis|Van Bogaert's sclerosing leukoencephalitis|Van Bogaert encephalitis|Dawson's encephalitis|Subacute sclerosing leukoencephalitis|Van Bogaert disease	http://purl.obolibrary.org/obo/MONDO_0009835	Subacute sclerosing panencephalitis (SSPE) is a chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex.	ORPHA:2806|UMLS:C0038522|http://identifiers.org/omim/260470|NCIT:C85171|DOID:8970|MESH:D013344
MONDO:0009834	obsolete pancreatic insufficiency, combined exocrine	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0009834		
MONDO:0009833	Shwachman-Diamond syndrome	biolink:Disease	mondo	DOID:0080023|MESH:C537330|Orphanet:811|GARD:0004863|NCIT:C61235|OMIMPS:260400|MedDRA:10067940|SCTID:89454001|DOID:0060479|ICD10:D61.0	ordo_disease|gard_rare	Shwachman-Diamond syndrome|pancreatic insufficiency and bone marrow dysfunction|Schwachman-Diamond syndrome|lipomatosis of pancreas, congenital|Shwachman syndrome|Shwachman-Bodian syndrome|Shwachman-Diamond syndrome; SDS|SDS|congenital lipomatosis of pancreas|Shwachman-Bodian-Diamond syndrome|Shwachman-Diamond type metaphyseal dysplasia|Schwachmann-Diamond syndrome	http://purl.obolibrary.org/obo/MONDO_0009833	Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.	ORPHA:811|NCIT:C61235|DOID:0060479|SNOMEDCT:89454001|MEDDRA:10067940|DOID:0080023|MESH:C537330
MONDO:0010800	Wolfram syndrome, mitochondrial form	biolink:Disease	mondo	DOID:0080583|MESH:C564012|UMLS:C1838782|OMIM:598500		Didmoad syndrome, mitochondrial form|diabetes insipidus and mellitus with optic atrophy and deafness, mitochondrial form|Wolfram syndrome, mitochondrial form	http://purl.obolibrary.org/obo/MONDO_0010800		http://identifiers.org/omim/598500|UMLS:C1838782|DOID:0080583|MESH:C564012
CHEBI:33822	organic hydroxy compound	biolink:ChemicalSubstance	mondo			organic hydroxy compounds|hydroxy compounds|organic alcohol	http://purl.obolibrary.org/obo/CHEBI_33822	An organic compound having at least one hydroxy group attached to a carbon atom.	
MONDO:0009832	pancreatic agenesis	biolink:Disease	mondo	Orphanet:2805|ICD10:Q45.0|MESH:C564908|UMLS:C1850096|SCTID:719044008|DOID:0050877|OMIMPS:260370	prototype_pattern|ordo_morphological_anomaly	partial agenesis of the pancreas|PAGEN1|partial pancreatic agenesis|congenital pancreatic agenesis|pancreatic agenesis type 1|pancreatic agenesis 1	http://purl.obolibrary.org/obo/MONDO_0009832	Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue.	DOID:0050877|MESH:C564908|SNOMEDCT:719044008|UMLS:C1850096|ORPHA:2805
MONDO:0010802	pancreatic hypoplasia-diabetes-congenital heart disease syndrome	biolink:Disease	mondo	ICD10:Q87.8|GARD:0000347|MESH:C564011|DOID:0111733|Orphanet:2255|SCTID:722206009|OMIM:600001	ordo_disease	pancreatic agenesis and congenital heart defects|HDCA|heart defects, congenital, and other congenital anomalies; HDCA|pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease|Yorifuji-Okuno syndrome|heart defects, congenital, and other congenital anomalies|congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease|hereditary pancreatic hypoplasia, diabetes mellitus and congenital heart disease|Yorifuji Okuno syndrome	http://purl.obolibrary.org/obo/MONDO_0010802	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).	MESH:C564011|DOID:0111733|UMLS:C2931296|SNOMEDCT:722206009|ORPHA:2255|http://identifiers.org/omim/600001
MONDO:0009831	malignant pancreatic neoplasm	biolink:Disease	mondo	NCIT:C9005|DOID:1793|KEGG:05212|ICD9:157.2|ICD9:157.1|ICD10:C25.9|ICD9:157.0|EFO:1000359|ICD9:157.8		cancer of pancreas|malignant pancreatic neoplasm|pancreatic cancer|malignant neoplasm of pancreas|pancreas neoplasm|pancreas cancer|pancreatic tumor|malignant neoplasm of the pancreas|Ca body of pancreas|malignant neoplasm of body of pancreas|Ca head of pancreas|pancreatic neoplasm|malignant pancreas neoplasm|Ca tail of pancreas|malignant neoplasm of head of pancreas|malignant neoplasm of tail of pancreas	http://purl.obolibrary.org/obo/MONDO_0009831	A malignant neoplasm involving the pancreas.	DOID:1793|NCIT:C9005
MONDO:0009830	parkinsonian-pyramidal syndrome	biolink:Disease	mondo	GARD:0009175|OMIM:260300|MESH:C538104|DOID:0060372|Orphanet:171695|UMLS:C1850100|ICD10:G20	ordo_disease	PARK15|autosomal recessive early-onset Parkinson disease 15|pallido-pyramidal syndrome|autosomal recessive early-onset Parkinson's disease 15|parkinsonian-pyramidal syndrome|pallidopyramidal syndrome|Pallidopyramidal syndrome|Parkinson disease 15, autosomal recessive early-onset|pallido-pyramidal disease|autosomal recessive early-onset Parkinson disease type 15|Parkinson disease 15, autosomal recessive early-onset; PARK15	http://purl.obolibrary.org/obo/MONDO_0009830	A Parkinson's disease that has material basis in mutation in the FBXO7 gene on chromosome 22q12.3.	DOID:0060372|UMLS:C1850100|ORPHA:171695|MESH:C538104|http://identifiers.org/omim/260300
MONDO:0010801	spondylocamptodactyly syndrome	biolink:Disease	mondo	UMLS:C4274762|ICD10:Q77.8|GARD:0004972|MESH:C535779|SCTID:716231009|OMIM:600000|Orphanet:3180|UMLS:C1838781	ordo_malformation_syndrome	spondylo camptodactyly syndrome|camptodactyly with cervical platyspondyly|spondylocamptodactyly	http://purl.obolibrary.org/obo/MONDO_0010801	Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis.	MESH:C535779|UMLS:C1838781|ORPHA:3180|http://identifiers.org/omim/600000|UMLS:C4274762|SNOMEDCT:716231009
MONDO:0010804	obsolete BRCATA	biolink:Disease	mondo	OMIM:600048		breast cancer, 11-22 translocation-associated; BRCATA|moved to 114480|BRCATA|breast cancer, 11-22 translocation-associated	http://purl.obolibrary.org/obo/MONDO_0010804		http://identifiers.org/omim/600048
MONDO:0010803	Eiken syndrome	biolink:Disease	mondo	UMLS:C1838779|MESH:C564010|DOID:0111732|Orphanet:79106|OMIM:600002|SCTID:720863002	ordo_malformation_syndrome	Eiken syndrome|Eiken skeletal dysplasia|bone modeling defect of hands and feet	http://purl.obolibrary.org/obo/MONDO_0010803	Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family.	MESH:C564010|ORPHA:79106|UMLS:C1838779|DOID:0111732|http://identifiers.org/omim/600002|SNOMEDCT:720863002
MONDO:0010806	retinitis pigmentosa 13	biolink:Disease	mondo	GARD:0010388|DOID:0110403|MESH:C564008|UMLS:C1838702|OMIM:600059|ICD10:H35.5	gard_rare	retinitis pigmentosa caused by mutation in PRPF8|RP 13|retinitis pigmentosa type 13|retinitis pigmentosa 13; RP13|RP13|retinitis pigmentosa 13|PRPF8 retinitis pigmentosa	http://purl.obolibrary.org/obo/MONDO_0010806	Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF8 gene.	MESH:C564008|DOID:0110403|UMLS:C1838702|http://identifiers.org/omim/600059
MONDO:0010805	bladder exstrophy (disease)	biolink:Disease	mondo	SCTID:61758007|DOID:0080174|ICD10:Q64.1|NCIT:C123207|UMLS:C0005689|ICD9:753.5|Orphanet:93930|GARD:0006398|HP:0002836|OMIM:600057	ordo_clinical_subtype	bladder exstrophy|exstrophy of the bladder|bladder exstrophy and epispadias Complex|exstrophy of bladder|ectopia vesicae|classic exstrophy of the bladder	http://purl.obolibrary.org/obo/MONDO_0010805	Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall.	SNOMEDCT:61758007|UMLS:C0005689|NCIT:C123207|ORPHA:93930|http://identifiers.org/omim/600057|DOID:0080174|MESH:D001746
HGNC:2263	COX15	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2263		
HP:0002167	Neurological speech impairment	biolink:PhenotypicFeature	mondo	UMLS:C0037822|MSH:D013064		Speech impairment|Speech impediment|Speech disorder	http://purl.obolibrary.org/obo/HP_0002167		
HGNC:2260	COX10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2260		
NCBITaxon:39087	Arvicolinae	organism taxon	mondo	GC_ID:1		Microtinae	http://purl.obolibrary.org/obo/NCBITaxon_39087		
HP:0002160	Hyperhomocystinemia	biolink:PhenotypicFeature	mondo	UMLS:C3806347		Elevated blood homocystine|Homocystinemia	http://purl.obolibrary.org/obo/HP_0002160	An increased concentration of homocystine in the blood.	
HP:0002164	Nail dysplasia	biolink:PhenotypicFeature	mondo	UMLS:C1834405		Dysplastic nails|Atypical nail growth|Onychodysplasia	http://purl.obolibrary.org/obo/HP_0002164	The presence of developmental dysplasia of the nail.	
NCBITaxon:693762	Schizaeales	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_693762		
NCBITaxon:693766	Anemiaceae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_693766		
CHEBI:137419	secondary ammonium ion	biolink:ChemicalSubstance	mondo			a secondary amine|secondary amine(1+)	http://purl.obolibrary.org/obo/CHEBI_137419	An organic cation obtained by protonation of any secondary amino compound; major species at pH 7.3.	
NCBITaxon:426455	Rhipicephalus <subgenus>	organism taxon	mondo	GC_ID:1|PMID:14707501		Rhipicephalus|Rhipicephalus (Rhipicephalus)	http://purl.obolibrary.org/obo/NCBITaxon_426455		
NCBITaxon:426442	Ixodinae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_426442		
NCBITaxon:426441	Amblyomminae	organism taxon	mondo	GC_ID:1		Eschatocephalinae	http://purl.obolibrary.org/obo/NCBITaxon_426441		
HGNC:4800	HSD17B10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4800		
HGNC:4801	HADHA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4801		
FOODON:00001301	has food substance analog	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00001301		
NCBITaxon:426439	Haemaphysalinae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_426439		
NCBITaxon:426438	Hyalomminae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_426438		
NCBITaxon:426437	Rhipicephalinae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_426437		
HGNC:4803	HADHB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4803		
HGNC:4805	HAGH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4805		
HGNC:4806	HAL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4806		
HGNC:4814	KALRN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4814		
HGNC:4816	HARS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4816		
HGNC:4817	HARS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4817		
HP:0002102	Pleuritis	biolink:PhenotypicFeature	mondo	UMLS:C0032231|MSH:D010998|SNOMEDCT_US:196075003		Pleurisy|Inflammation of tissues lining lungs and chest	http://purl.obolibrary.org/obo/HP_0002102	Inflammation of the pleura.	
HP:0002103	Abnormal pleura morphology	biolink:PhenotypicFeature	mondo	UMLS:C4025726		Abnormality of the pleura	http://purl.obolibrary.org/obo/HP_0002103	An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls.	
HP:0002104	Apnea	biolink:PhenotypicFeature	mondo	UMLS:C0003578|SNOMEDCT_US:1023001|SNOMEDCT_US:248583008|MSH:D001049		Apnoea|Apneic episodes|Absence of spontaneous respiration	http://purl.obolibrary.org/obo/HP_0002104	Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.	
HP:0002105	Hemoptysis	biolink:PhenotypicFeature	mondo	MSH:D006469|SNOMEDCT_US:66857006|UMLS:C0019079|SNOMEDCT_US:6686005		Coughing up blood|Haemoptysis|Coughing up blood or blood-stained mucus	http://purl.obolibrary.org/obo/HP_0002105	Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.	
HGNC:4823	HBA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4823		
CHEBI:57869	6-aminopenicillanic acid zwitterion	biolink:ChemicalSubstance	mondo			(2S,5R,6R)-6-azaniumyl-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylate|6-aminopenicillanate|6-azaniumyl-2,2-dimethylpenam-3alpha-carboxylate	http://purl.obolibrary.org/obo/CHEBI_57869	Zwitterionic form of 6-aminopenicillanic acid arising from migration of a proton from the carboxy group to the 6-amino group; major species at pH 7.3.	
HGNC:4824	HBA2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4824		
HGNC:4827	HBB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4827		
CHEBI:33892	iron coordination entity	biolink:ChemicalSubstance	mondo			iron coordination entity|iron coordination entities|iron coordination compounds	http://purl.obolibrary.org/obo/CHEBI_33892		
CHEBI:33893	reagent	biolink:ChemicalSubstance	mondo			reagent|reactivo|reagents|reactif	http://purl.obolibrary.org/obo/CHEBI_33893	A substance used in a chemical reaction to detect, measure, examine, or produce other substances.	
HGNC:4832	HBG2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4832		
NCBITaxon:715340	Pleosporineae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_715340		
CHEBI:33890	cobalt coordination entity	biolink:ChemicalSubstance	mondo			cobalt coordination entities|cobalt coordination entity|cobalt coordination compounds	http://purl.obolibrary.org/obo/CHEBI_33890		
CHEBI:18291	manganese atom	biolink:ChemicalSubstance	mondo			manganeso|25Mn|manganese|manganum|Mn|Manganese|manganese|Mangan	http://purl.obolibrary.org/obo/CHEBI_18291		
HGNC:4837	HCCS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4837		
HGNC:4838	SERPIND1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4838		
HGNC:4839	HCFC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4839		
HGNC:4845	HCN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4845		
MONDO:0019052	inborn errors of metabolism	biolink:Disease	mondo	UMLS:C0025521|SCTID:86095007|Orphanet:68367|NCIT:C34816|DOID:655|MESH:D008661|MedDRA:10058097|MedDRA:10062018	ordo_group_of_disorders	rare inherited metabolic disorder|rare metabolic disease|metabolic hereditary disorder|congenital metabolism disorder|inborn metabolism disorder|hereditary metabolic disease|inborn errors of metabolism|inherited metabolic disorder|rare inborn errors of metabolism|inborn error of metabolism|congenital metabolic disorder	http://purl.obolibrary.org/obo/MONDO_0019052	Rare inherited disorders resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function.	SNOMEDCT:86095007|DOID:655|ORPHA:68367|MEDDRA:10058097|UMLS:C0025521|MESH:D008661|NCIT:C34816|MEDDRA:10062018
MONDO:0020041	46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue	biolink:Disease	mondo	UMLS:CN227739|Orphanet:98086	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020041		ORPHA:98086|UMLS:CN227739
MONDO:0019051	obsolete lysosomal disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019051		
MONDO:0020040	46,XY disorder of sex development	biolink:Disease	mondo	UMLS:C2751824|MESH:D058490|SCTID:8234004|NCIT:C127171|Orphanet:98085|GARD:0008538	ordo_group_of_disorders	46, XY female|46,XY disorders of Sex development|46,XY differences of Sex development|46,XY DSD|46, XY DSD|XY female|46, XY disorders of sexual development	http://purl.obolibrary.org/obo/MONDO_0020040	Differences of sex development in individuals with 46,XY karyotype.	NCIT:C127171|UMLS:C2751824|MESH:D058490|SNOMEDCT:8234004|ORPHA:98085
MONDO:0019054	congenital limb malformation	biolink:Disease	mondo	Orphanet:68378	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019054		ORPHA:68378
MONDO:0019053	peroxisomal disease	biolink:Disease	mondo	DOID:906|NCIT:C85005|Orphanet:68373|ICD9:277.89|SCTID:238059005|ICD10:E71.50|ICD9:277.86|COHD:441268|ICD10:E71.5|UMLS:C0282528	ordo_group_of_disorders	peroxisomal function disorder|peroxisomal disorder|disorder of peroxisomal function	http://purl.obolibrary.org/obo/MONDO_0019053	A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia.	SNOMEDCT:238059005|UMLS:C0282528|ORPHA:68373|DOID:906|NCIT:C85005|MESH:D018901
MONDO:0019050	inherited hemoglobinopathy	biolink:Disease	mondo	ICD10:D58.0|ICD9:282.7|ICD10:D57.3|COHD:432868|ICD10:D56.4|ICD10:D56.3|ICD10:D57.2|MESH:D006453|ICD10:D56.2|ICD10:D57.1|ICD10:D57.0|ICD10:D56.1|GARD:0012455|ICD10:D56.0|UMLS:C1960031|DOID:2860|UMLS:C0019045|NCIT:C3092|ICD10:D58.9|ICD10:D58.8|ICD10:D57.8|ICD10:D56.9|MedDRA:10060892|SCTID:427306008|ICD10:D56.8|Orphanet:68364|ICD10:D58.1|ICD10:D58.2	ordo_group_of_disorders	Hemoglobinopathies / iron metabolism|hemoglobinopathies|hemoglobinopathy|hereditary hemoglobinopathy	http://purl.obolibrary.org/obo/MONDO_0019050	An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule.	ORPHA:68364|UMLS:C0019045|MESH:D006453|UMLS:C1960031|SNOMEDCT:427306008|DOID:2860|MEDDRA:10060892|NCIT:C3092
PATO:0000125	mass	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0000125	A physical quality that inheres in a bearer by virtue of the proportion of the bearer's amount of matter.	
MONDO:0020049	autosomal anomaly	biolink:Disease	mondo	UMLS:CN227743|Orphanet:98127	ordo_group_of_disorders	autosome chromosomal anomaly|chromosomal anomaly of autosome	http://purl.obolibrary.org/obo/MONDO_0020049	A chromosomal anomaly that involves an autosome.	ORPHA:98127|UMLS:CN227743
MONDO:0020048	internal carotid agenesis	biolink:Disease	mondo	SCTID:722004001|ICD10:Q28.1|GARD:0003012|Orphanet:981	ordo_morphological_anomaly|gard_rare	internal carotid artery agenesis|agenesis of the internal carotid artery	http://purl.obolibrary.org/obo/MONDO_0020048	Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerised tomography.	SNOMEDCT:722004001|ORPHA:981
MONDO:0007069	obsolete Adie syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0007069		
MONDO:0020047	autosomal recessive syndromic cerebellar ataxia	biolink:Disease	mondo	UMLS:CN227742|Orphanet:98099	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020047		ORPHA:98099|UMLS:CN227742
MONDO:0020046	autosomal recessive degenerative and progressive cerebellar ataxia	biolink:Disease	mondo	UMLS:CN229259|Orphanet:98098	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020046		ORPHA:98098|UMLS:CN229259
MONDO:0020045	autosomal recessive cerebellar ataxia due to a DNA repair defect	biolink:Disease	mondo	UMLS:CN227741|ICD10:G11.3|Orphanet:98097	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020045		ORPHA:98097|UMLS:CN227741
MONDO:0007067	pyruvate kinase hyperactivity	biolink:Disease	mondo	MESH:C566310|UMLS:C1863224|EFO:0005840|OMIM:102900		adenosine triphosphate, elevated, of erythrocytes|pyruvate kinase hyperactivity	http://purl.obolibrary.org/obo/MONDO_0007067	Autosomal dominant phenotype characterized by increase of red blood cell ATP.	UMLS:C1863224|http://identifiers.org/omim/102900|MESH:C566310
MONDO:0007068	adenylosuccinate lyase deficiency	biolink:Disease	mondo	GARD:0000550|ICD9:277.2|ICD10:E79.8|SCTID:15285008|UMLS:C0268126|MESH:C538235|Orphanet:46|DOID:0050762|OMIM:103050	ordo_disease	ADSL deficiency|inborn (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity disorder|adenylosuccinase deficiency; ADSLD|rare inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|adenylosuccinase deficiency|inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|adenylosuccinase lyase deficiency|rare inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|Adsl deficiency|ADSLD|adenylosuccinate lyase deficiency	http://purl.obolibrary.org/obo/MONDO_0007068	Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.	http://identifiers.org/omim/103050|ORPHA:46|UMLS:C0268126|MESH:C538235|DOID:0050762|SNOMEDCT:15285008
MONDO:0020044	autosomal recessive metabolic cerebellar ataxia	biolink:Disease	mondo	UMLS:CN229258|Orphanet:98096	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020044		ORPHA:98096|UMLS:CN229258
MONDO:0044014	postpartum thyroiditis	biolink:Disease	mondo	NCIT:C114389|SCTID:52772002|UMLS:C0271815|MESH:D050032		thyroiditis, postpartum|thyroiditides, postpartum|post partum thyroiditis|postpartum thyroiditides|post-partum thyroiditis|post-partum thyroiditides|postpartum thyroiditis|thyroiditides, post-partum|thyroiditis, post-partum	http://purl.obolibrary.org/obo/MONDO_0044014	A transient autoimmune Inflammatory disorder of thyroid gland that occurs postpartum due to any partum problem. It is characterized by the presence of high titers of autoantibodies against thyroid peroxidase and thyroglobulin. Clinical signs include the triphasic thyroid hormone pattern: beginning with thyrotoxicosis, followed with hypothyroidism, then return to euthyroid state by 1 year postpartum	UMLS:C0271815|SNOMEDCT:52772002|NCIT:C114389|MESH:D050032
MONDO:0020043	autosomal recessive congenital cerebellar ataxia	biolink:Disease	mondo	Orphanet:98095	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020043		ORPHA:98095
MONDO:0007065	obsolete adenosine deaminase, elevated, hemolytic anemia due to	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0007065		
MONDO:0044013	puerperal disorder	biolink:Disease	mondo	UMLS:C0034040|SCTID:362973001|MESH:D011644		disorder, puerperal|postpartum disorder|disorders, puerperal|puerperal disorder|disorder of puerperium	http://purl.obolibrary.org/obo/MONDO_0044013	Disorders or diseases associated with puerperium, the six-to-eight-week period immediately after parturition in humans.	MESH:D011644|UMLS:C0034040|SNOMEDCT:362973001
MONDO:0020042	syndrome with 46,XY disorder of sex development	biolink:Disease	mondo	UMLS:CN206965|Orphanet:98087	ordo_group_of_disorders	syndrome with 46,XY DSD	http://purl.obolibrary.org/obo/MONDO_0020042		UMLS:CN206965|ORPHA:98087
MONDO:0007066	adenosine triphosphatase deficiency, anemia due to	biolink:Disease	mondo	OMIM:102800|GARD:0000548|UMLS:C1863225|SCTID:725057008|MESH:C566311|Orphanet:1044	gard_rare	adenosine triphosphatase deficiency anemia|anemia due to adenosine triphosphatase deficiency|adenosine triphosphatase deficiency, anemia due to	http://purl.obolibrary.org/obo/MONDO_0007066		UMLS:C1863225|http://identifiers.org/omim/102800|ORPHA:1044|MESH:C566311|SNOMEDCT:725057008
MONDO:0007063	obsolete long bone adamantinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0007063	A adamantinoma that involves the long bone.	
MONDO:0007064	adenosine deaminase deficiency	biolink:Disease	mondo	SCTID:44940001|ICD9:277.2|MedDRA:10066367|GARD:0005748|DOID:5810|MESH:C531816|Orphanet:277|OMIM:102700|ICD10:D81.3|NCIT:C3962|CSP:1560-6660|EFO:0009147	gard_rare|ordo_disease	adenosine deaminase deficient severe combined immunodeficiency|severe combined immunodeficiency, autosomal recessive, T cell-NEGATIVE, B cell-NEGATIVE, NK cell-NEGATIVE, due to adenosine deaminase deficiency|SCID due to ADA deficiency, early-onset|adenosine deaminase deficiency, partial|SCID due to ADA deficiency, delayed onset|SCID due to ADA deficiency|SCID due to ADA deficiency, late-onset|SCID due to adenosine deaminase deficiency|ADA|ADA deficiency|severe combined immunodeficiency due to ADA deficiency|partial ADA deficiency|ADA-SCID|severe combined immunodeficiency due to adenosine deaminase deficiency	http://purl.obolibrary.org/obo/MONDO_0007064	Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.	MEDDRA:10066367|UMLS:C0392607|http://identifiers.org/omim/102700|NCIT:C3962|MESH:C531816|ORPHA:277|DOID:5810|SNOMEDCT:44940001
MONDO:0007061	acylase, cobalt-activated	biolink:Disease	mondo	OMIM:102590		acylase, cobalt-activated	http://purl.obolibrary.org/obo/MONDO_0007061		http://identifiers.org/omim/102590
MONDO:0007062	congenital absence/hypoplasia of fingers excluding thumb, unilateral	biolink:Disease	mondo	OMIM:102650|ICD10:Q71.3|GARD:0000377|MESH:C562417|Orphanet:973	gard_rare|ordo_clinical_subtype	adactylia unilateral|digits 2-5 hypodactyly, unilateral|digits 2-5 oligodactyly, unilateral|terminal transverse defects of hand, unilateral|adactylia, unilateral|Adactyly of hand, unilateral	http://purl.obolibrary.org/obo/MONDO_0007062	Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia).	http://identifiers.org/omim/102650|ORPHA:973|MESH:C562417
MONDO:0007060	spermatogenic failure 6	biolink:Disease	mondo	OMIM:102530|DOID:0070167|SCTID:236818008		spermatogenic failure 6|SPATA16 azoospermia|spermatogenic failure type 6|SPGF6|azoospermia caused by mutation in SPATA16|globozoospermia|spermatozoa, round-headed|acrosome malformation of spermatozoa|spermatogenic failure 6; SPGF6|round-headed spermatozoa	http://purl.obolibrary.org/obo/MONDO_0007060	Any azoospermia in which the cause of the disease is a mutation in the SPATA16 gene.	http://identifiers.org/omim/102530|SNOMEDCT:236818008|DOID:0070167
MONDO:0020039	46,XX disorder of sex development induced by androgens excess	biolink:Disease	mondo	UMLS:CN227738|Orphanet:98078	ordo_group_of_disorders	46,XX DSD induced by androgens excess	http://purl.obolibrary.org/obo/MONDO_0020039		ORPHA:98078|UMLS:CN227738
MONDO:0019059	obsolete rare parkinsonian disorder	biolink:Disease	mondo	Orphanet:68402	ordo_group_of_disorders|obsoletion_candidate	rare parkinsonian disorder|rare hypokinetic movement disorder	http://purl.obolibrary.org/obo/MONDO_0019059	Rare parkinsonian disorder.	ORPHA:68402
MONDO:0019056	neuromuscular disease	biolink:Disease	mondo	DOID:440|UMLS:C0027868|ICD9:358|Orphanet:68381|ICD10:G70.9|MedDRA:10029323|ICD9:358.9|MESH:D009468|EFO:1001902	ordo_group_of_disorders	neuromuscular disease	http://purl.obolibrary.org/obo/MONDO_0019056	Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions	UMLS:C0027868|MESH:D009468|DOID:440|ORPHA:68381|MEDDRA:10029323
MONDO:0019055	obsolete mitochondrial disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019055		
MONDO:0019058	neurometabolic disease	biolink:Disease	mondo	Orphanet:68385|UMLS:CN205539	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019058		ORPHA:68385|UMLS:CN205539
MONDO:0019057	obsolete rare constitutional aplastic anemia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019057		
MONDO:0020030	obsolete rare genetic renal disease	biolink:Disease	mondo	Orphanet:98056|UMLS:CN206955	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0020030		ORPHA:98056|UMLS:CN206955
MONDO:0019041	obsolete rare genetic inherited tumor	biolink:Disease	mondo	Orphanet:68336|UMLS:CN205525	ordo_group_of_disorders|obsoletion_candidate	rare genetic tumor	http://purl.obolibrary.org/obo/MONDO_0019041		ORPHA:68336|UMLS:CN205525
MONDO:0022693	cerebral calcification cerebellar hypoplasia	biolink:Disease	mondo	GARD:0001201	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022693		
MONDO:0019040	chromosomal anomaly	biolink:Disease	mondo	DOID:0080014|SCTID:409709004|NCIT:C34470|MESH:D025063|Orphanet:68335|ICD9:758.89	ordo_group_of_disorders	chromosomal disorders|chromosome disorder|chromosomal disorder|autosomal chromosome disorder|disorder, chromosomal|chromosome Abnormality disorder|disorder, chromosome Abnormality|chromosome Abnormality disorders|disorders, chromosomal|chromosome disorder, autosomal|chromosomal disease|disorders, chromosome|chromosomal anomaly|chromosome disorders, autosomal|autosomal chromosome disorders|disorder, chromosome	http://purl.obolibrary.org/obo/MONDO_0019040	Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)	DOID:0080014|MESH:D002869|MESH:D025063|NCIT:C34470|ORPHA:68335|UMLS:C0008625|SNOMEDCT:409709004
MONDO:0022694	cerebral calcifications opalescent teeth phosphaturia	biolink:Disease	mondo	GARD:0001202	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022694		
MONDO:0019043	obsolete rare genetic skin disease	biolink:Disease	mondo	Orphanet:68346	ordo_group_of_disorders|obsoletion_candidate	rare genodermatosis	http://purl.obolibrary.org/obo/MONDO_0019043		ORPHA:68346
MONDO:0019042	multiple congenital anomalies/dysmorphic syndrome	biolink:Disease	mondo	Orphanet:68341|OMIMPS:614080	ordo_group_of_disorders	MCAHS	http://purl.obolibrary.org/obo/MONDO_0019042		ORPHA:68341
MONDO:0022697	athetoid cerebral palsy	biolink:Disease	mondo	ICD10:G80.3|DOID:0050672|SCTID:75019001|UMLS:C0270742|NCIT:C97169|SCTID:230780007|GARD:0010449	gard_rare	dyskinetic cerebral palsy|athetoid cerebral palsy|athetoid dyskinetic cerebral palsy|cerebral palsy dyskinetic|ADCP	http://purl.obolibrary.org/obo/MONDO_0022697	A subtype of cerebral palsy characterized by involuntary, purposeless writhing movements which affect the hands, feet, arms, and legs; the face and tongue may be affected as well, leading to involuntary grimacing, drooling, dysarthria and difficulty eating.	UMLS:C0270742|DOID:0050672|NCIT:C97169|SNOMEDCT:75019001|SNOMEDCT:230780007
MONDO:0022698		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0022698		
MONDO:0022699	cerebral palsy spastic hemiplegic	biolink:Disease	mondo	GARD:0010448	gard_rare	spastic hemiplegia cerebral palsy|spastic hemiplegic cerebral palsy	http://purl.obolibrary.org/obo/MONDO_0022699		
MONDO:0020038	obsolete gonadal dysgenesis of gynecological interest	biolink:Disease	mondo	Orphanet:98074			http://purl.obolibrary.org/obo/MONDO_0020038		ORPHA:98074
MONDO:0020037	obsolete rare gynecological tumor	biolink:Disease	mondo	UMLS:CN206962|Orphanet:98063	obsoletion_candidate|ordo_group_of_disorders	rare gynaecological neoplasm|rare female reproductive system neoplasm|rare gynaecological cancer	http://purl.obolibrary.org/obo/MONDO_0020037	Rare female reproductive system neoplasm.	ORPHA:98063|UMLS:CN206962
MONDO:0020036	obsolete rare nervous system tumor	biolink:Disease	mondo	Orphanet:98062	obsoletion_candidate|ordo_group_of_disorders	rare nervous system cancer|rare nervous system neoplasm|nervous system rare tumor	http://purl.obolibrary.org/obo/MONDO_0020036	Rare nervous system cancer.	ORPHA:98062
MONDO:0020035	rare otorhinolaryngologic tumor	biolink:Disease	mondo	Orphanet:98061|UMLS:CN206960	ordo_group_of_disorders|obsoletion_candidate	rare ORL neoplasm|rare ORL tumor|rare ORL cancer	http://purl.obolibrary.org/obo/MONDO_0020035		ORPHA:98061|UMLS:CN206960
MONDO:0007078	pseudohypoparathyroidism type 1A	biolink:Disease	mondo	Orphanet:79443|GARD:0005770|UMLS:C2931404|NCIT:C129721|SCTID:58833000|ICD10:E20.1|UMLS:C3494506|OMIM:103580|GARD:0007486|DOID:0080053|ICD9:275.49	gard_rare|ordo_disease	Albright hereditary osteodystrophy with multiple hormone resistance|Albright hereditary osteodystrophy-PHP syndrome Ia|Albright hereditary osteodystrophy|PHP 1A|pseudohypoparathyroidism type 1A|AHO-PHP syndrome Ia|pseudohypoparathyroidism, type IA|Albright's hereditary osteodystrophy|PHP1A|pseudohypoparathyroidism, type 1A|AHO|pseudohypoparathyroidism, type IA; PHP1A|PHP1A	http://purl.obolibrary.org/obo/MONDO_0007078	Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO).	http://identifiers.org/omim/103580|SNOMEDCT:58833000|DOID:0080053|NCIT:C129721|UMLS:C3494506|ORPHA:79443|UMLS:C2931404
MONDO:0020034	obsolete rare respiratory tract neoplasm	biolink:Disease	mondo	Orphanet:98060|UMLS:CN206959	ordo_group_of_disorders|obsoletion_candidate	rare respiratory cancer|rare respiratory tract neoplasm|rare respiratory neoplasm|rare respiratory tumor	http://purl.obolibrary.org/obo/MONDO_0020034	Any of the forms of respiratory tract neoplasm that have a rare incidence.	ORPHA:98060|UMLS:CN206959
MONDO:0007079	alcohol dependence	biolink:Disease	mondo	COHD:435243|ICD9:303.90|NCIT:C93040|ICD9:305.0|DOID:0050741|EFO:0003829|OMIM:103780|SCTID:66590003|KEGG:05034		alcohol dependence|Aerodigestive tract cancer, squamous cell, alcohol-related, protection against|alcoholism|alcohol dependence, protection against	http://purl.obolibrary.org/obo/MONDO_0007079	Physical and psychological dependence on alcohol.	http://identifiers.org/omim/103780|SNOMEDCT:66590003|NCIT:C93040|DOID:0050741
MONDO:0020033	obsolete rare digestive tumor	biolink:Disease	mondo	Orphanet:98059|UMLS:CN206958	obsoletion_candidate|ordo_group_of_disorders	rare digestive neoplasm|rare digestive cancer|rare digestive system neoplasm	http://purl.obolibrary.org/obo/MONDO_0020033	Any of the forms of digestive system neoplasm that have a rare incidence.	ORPHA:98059|UMLS:CN206958
MONDO:0020032	obsolete rare urinary tract tumor	biolink:Disease	mondo	Orphanet:98058|UMLS:CN206957	obsoletion_candidate|ordo_group_of_disorders	rare urinary tract neoplasm|rare urinary system neoplasm|rare urinary tract cancer	http://purl.obolibrary.org/obo/MONDO_0020032	Rare urinary system benign neoplasm.	ORPHA:98058|UMLS:CN206957
MONDO:0007076	obsolete ocular albinism with sensorineural deafness	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0007076		
MONDO:0022691	cerebello-olivary atrophy	biolink:Disease	mondo	GARD:0001198	gard_rare	Cerebelloolivary atrophy	http://purl.obolibrary.org/obo/MONDO_0022691		
MONDO:0020031	obsolete rare tumor	biolink:Disease	mondo	Orphanet:98057	ordo_group_of_disorders|obsoletion_candidate	rare neoplasm (disease)|rare disease of cellular proliferation|rare neoplasm	http://purl.obolibrary.org/obo/MONDO_0020031	Rare disease of cellular proliferation.	ORPHA:98057
MONDO:0007077	Tietz syndrome	biolink:Disease	mondo	GARD:0007772|UMLS:C0391816|Orphanet:42665|SCTID:403805009|DOID:0090002|ICD9:270.2|MESH:C536919|OMIM:103500	ordo_malformation_syndrome|gard_rare	albinism-deafness of Tietz|Tietz syndrome|hypopigmentation/deafness of Tietz|Tietz albinism-deafness syndrome|hypopigmentation-deafness syndrome|Tietz albinism-deafness syndrome; TADS|TADS	http://purl.obolibrary.org/obo/MONDO_0007077	Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.	http://identifiers.org/omim/103500|SNOMEDCT:403805009|UMLS:C0391816|DOID:0090002|MESH:C536919|ORPHA:42665
MONDO:0007074	ainhum (disease)	biolink:Disease	mondo	SCTID:38528001|HP:0031009|COHD:136912|DOID:11329|NCIT:C84544|ICD10:L94.6|ICD9:136.0|MESH:D000387|GARD:0009512|OMIM:103400|UMLS:C0001860		Dactylolysis spontanea|Dactylolysis|spontaneous dactylolysis|ainhum	http://purl.obolibrary.org/obo/MONDO_0007074	Spontaneous autoamputation of a digit, usually the fifth toe. It results from the formation of a fibrotic band which constricts the full radius of the digit and eventually causes the spontaneous autoamputation.	UMLS:C0001860|MESH:D000387|SNOMEDCT:38528001|DOID:11329|http://identifiers.org/omim/103400|NCIT:C84544
MONDO:0007075	alacrima, congenital, autosomal dominant	biolink:Disease	mondo	MESH:C566307|OMIM:103420		alacrimia congenita|alacrimia congenita, autosomal dominant|alacrima, congenital	http://purl.obolibrary.org/obo/MONDO_0007075		MESH:C566307|http://identifiers.org/omim/103420
MONDO:0007072	ADULT syndrome	biolink:Disease	mondo	SCTID:720464003|ICD10:Q87.2|DOID:0050601|Orphanet:978|UMLS:C1863204|GARD:0000384|OMIM:103285|MESH:C538052	ordo_malformation_syndrome	acro dermato ungual lacrimal tooth syndrome|acro-dermato-ungual-lacrimal-tooth syndrome|acro-dermato-ungual-lacrimal-Tooth syndrome|acrodermatounguallacrimaltooth syndrome|pigment anomaly-ectrodactyly-hypodontia syndrome|ADULT syndrome	http://purl.obolibrary.org/obo/MONDO_0007072	ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.	MESH:C538052|DOID:0050601|SNOMEDCT:720464003|ORPHA:978|http://identifiers.org/omim/103285|UMLS:C1863204
MONDO:0007073	hypoglossia-hypodactyly syndrome	biolink:Disease	mondo	OMIM:103300|ICD10:Q87.2|SCTID:35031005|GARD:0000068|Orphanet:989|ICD9:759.89	gard_rare|ordo_malformation_syndrome	aglossia adactylia|aglossia-adactylia|oromandibular limb hypoplasia|peromelia with micrognathia|Jussieu syndrome|aglossia-adactylia syndrome|Hanhart syndrome|peromelia with micrognathism|hypoglossia-hypodactylia|hypoglossia-hypodactylia syndrome	http://purl.obolibrary.org/obo/MONDO_0007073	Hanhart syndrome is a rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person.	SNOMEDCT:35031005|ORPHA:989|http://identifiers.org/omim/103300
MONDO:0007070	adiposis dolorosa	biolink:Disease	mondo	Wikipedia:Adiposis_dolorosa|MESH:D000274|OMIM:103200|UMLS:C0001529|Orphanet:36397|MedDRA:10001294|ICD10:E88.2|SCTID:71404003|GARD:0005750|ICD9:272.8|EFO:1000667|DOID:3928|NCIT:C84540	ordo_disease|gard_rare	adipose tissue rheumatism|Dercum's disease|lipomatosis dolorosa|Neurolipomatosis|adiposis dolorosa|Adiposalgia|Dercum disease	http://purl.obolibrary.org/obo/MONDO_0007070	Adiposis dolorosa or Dercum's disease is characterised by the development of multiple, painful, subcutaneous lipomas in association with obesity, asthenia and fatigue, and range of mental disturbances including instability, depression, confusion, dementia and epilepsy.	UMLS:C0001529|MESH:D000274|SNOMEDCT:71404003|DOID:3928|ORPHA:36397|MEDDRA:10001294|http://identifiers.org/omim/103200|NCIT:C84540
MONDO:0007071	adrenocortical hypofunction, chronic primary congenital	biolink:Disease	mondo	SCTID:12427005|UMLS:C0271740|ICD9:255.41|OMIM:103230|MESH:C562711		adrenocortical hypofunction, chronic primary congenital|Addison disease, congenital	http://purl.obolibrary.org/obo/MONDO_0007071		SNOMEDCT:12427005|UMLS:C0271740|http://identifiers.org/omim/103230|MESH:C562711
MONDO:0020029	obsolete rare genetic cardiac disease	biolink:Disease	mondo	UMLS:CN206954|Orphanet:98054	obsoletion_candidate|ordo_group_of_disorders	rare genetic heart disease	http://purl.obolibrary.org/obo/MONDO_0020029	Rare genetic heart disease.	ORPHA:98054|UMLS:CN206954
MONDO:0020028	obsolete rare allergic respiratory disease	biolink:Disease	mondo	Orphanet:98052|UMLS:C1504369	obsoletion_candidate|ordo_group_of_disorders	rare respiratory allergy|rare allergic respiratory disease	http://purl.obolibrary.org/obo/MONDO_0020028	Rare respiratory allergy.	UMLS:C1504369|ORPHA:98052
MONDO:0019049	obsolete rare dystonia	biolink:Disease	mondo	Orphanet:68363	ordo_group_of_disorders|obsoletion_candidate	rare dystonia|rare dystonia (disease)|rare dystonic disorder	http://purl.obolibrary.org/obo/MONDO_0019049	Rare dystonia.	ORPHA:68363
MONDO:0019048	obsolete rare vascular disease	biolink:Disease	mondo	Orphanet:68362	obsoletion_candidate|ordo_group_of_disorders	rare vascular disease	http://purl.obolibrary.org/obo/MONDO_0019048	Any of the forms of vascular disease that have a rare incidence.	ORPHA:68362
MONDO:0019045	obsolete rare sleep disorder	biolink:Disease	mondo	Orphanet:68354	ordo_group_of_disorders|obsoletion_candidate	rare sleep-wake disorder|rare sleep disorder|rare sleep wake disorder	http://purl.obolibrary.org/obo/MONDO_0019045	A rare form of sleep disorder.	ORPHA:68354
MONDO:0019044	tumor of hematopoietic and lymphoid tissues	biolink:Disease	mondo	UMLS:CN205528|Orphanet:68347	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019044		ORPHA:68347|UMLS:CN205528
MONDO:0019047	obsolete rare deafness	biolink:Disease	mondo	Orphanet:68361|UMLS:CN227564|NCIT:C36194	obsoletion_candidate|ordo_group_of_disorders	total deafness|complete deafness|rare hearing loss	http://purl.obolibrary.org/obo/MONDO_0019047	Any of the forms of hearing loss that have a rare incidence.	NCIT:C36194|UMLS:CN227564|ORPHA:68361
MONDO:0019046	leukodystrophy	biolink:Disease	mondo	NCIT:C61253|OMIMPS:312080|GARD:0006895|ICD9:330.0|Orphanet:68356|UMLS:C0023520|ICD10:E75.2|UMLS:CN228461|COHD:374912|DOID:0050987|DOID:0060786|SCTID:192781003|DOID:10579|MedDRA:10024381	ordo_group_of_disorders|gard_rare|merged_class	leukodystrophy, hypomyelinating|hypomyelinating leukoencephalopathy|HLD|hypomyelinating leukodystrophy	http://purl.obolibrary.org/obo/MONDO_0019046	Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems.	DOID:0060786|DOID:10579|UMLS:CN228461|MEDDRA:10024381|SNOMEDCT:192781003|ORPHA:68356|NCIT:C61253|DOID:0050987|UMLS:C0023520
MONDO:0019030	obsolete Acanthamoeba keratitis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019030		
MONDO:0022682	cennamo gangemi syndrome	biolink:Disease	mondo	GARD:0001179	gard_rare	hydrocephalus cataract microphthalmos	http://purl.obolibrary.org/obo/MONDO_0022682		
MONDO:0019032	X-linked intellectual disability with isolated growth hormone deficiency	biolink:Disease	mondo	Orphanet:67045|ICD10:E23.0|UMLS:C1848068	ordo_clinical_subtype	MRGH	http://purl.obolibrary.org/obo/MONDO_0019032		ORPHA:67045|UMLS:C1848068
MONDO:0019031	thrombocytopenia with congenital dyserythropoietic anemia	biolink:Disease	mondo	SCTID:722475006|ICD10:D69.4|Orphanet:67044|UMLS:C4302508	ordo_disease	X-linked congenital dyserythropoietic anemia with thrombocytopenia|congenital dyserythropoietic anemia with thombocytopenia|XDAT	http://purl.obolibrary.org/obo/MONDO_0019031	Thrombocytopenia with congenital dyserythropoietic anemia (CDA) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia.	SNOMEDCT:722475006|ORPHA:67044|UMLS:C4302508
MONDO:0022685	cerebellar agenesis	biolink:Disease	mondo	GARD:0001187	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022685		
MONDO:0022687	cerebellar degeneration	biolink:Disease	mondo	DOID:1443|GARD:0006019|NCIT:C84624|SCTID:95646004|UMLS:C0262404|ICD9:331.9	gard_rare	cerebellum neurodegenerative disease|cerebral degeneration|cerebellar degeneration|Brain degeneration|cerebellar Degeneration|neurodegenerative disease of cerebellum	http://purl.obolibrary.org/obo/MONDO_0022687	Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders.	SNOMEDCT:95646004|UMLS:C0262404|DOID:1443|NCIT:C84624
MONDO:0007049	acroleukopathy, symmetric	biolink:Disease	mondo	MESH:C566322|UMLS:C1863342|OMIM:102000		acroleukopathy, symmetric	http://purl.obolibrary.org/obo/MONDO_0007049		http://identifiers.org/omim/102000|UMLS:C1863342|MESH:C566322
MONDO:0020027	obsolete rare allergic disease	biolink:Disease	mondo	Orphanet:98050|UMLS:CN206951	obsoletion_candidate|ordo_group_of_disorders	rare allergic disease|rare allergic hypersensitivity disease|rare allergy	http://purl.obolibrary.org/obo/MONDO_0020027	Rare allergic hypersensitivity disease.	ORPHA:98050|UMLS:CN206951
MONDO:0020026	obsolete rare female infertility	biolink:Disease	mondo	Orphanet:98049|UMLS:CN227737	obsoletion_candidate|ordo_group_of_disorders	rare female infertility	http://purl.obolibrary.org/obo/MONDO_0020026	Rare female infertility.	ORPHA:98049|UMLS:CN227737
MONDO:0044037	livedo reticularis	biolink:Disease	mondo	UMLS:C0085642|SCTID:238772004|MESH:D054068		livedo racemosa|livedo reticularis	http://purl.obolibrary.org/obo/MONDO_0044037	A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming.	SNOMEDCT:238772004|MESH:D054068|UMLS:C0085642
PATO:0000146	temperature	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0000146	A physical quality of the thermal energy of a system.	
MONDO:0020025	obsolete rare male infertility	biolink:Disease	mondo	Orphanet:98048	obsoletion_candidate|ordo_group_of_disorders	rare male infertility	http://purl.obolibrary.org/obo/MONDO_0020025	Rare male infertility.	ORPHA:98048
MONDO:0007047	punctate palmoplantar keratoderma type III	biolink:Disease	mondo	GARD:0000133|GARD:0000125|DOID:0060362|EFO:1000758|OMIM:101850|UMLS:C0545044|ICD10:Q82.8|MESH:C535653|Orphanet:38	ordo_disease	collagenous plaques of hand and feet|rare form of Hirschsprung's disease|acrokeratoelastoidosis of Costa|PPKP3|punctate palmoplantar hyperkeratosis type 3|collagenous plaques of hands and feet|punctate palmoplantar keratoderma type 3|palmoplantar keratoderma, punctate type 3|palmoplantar keratoderma, punctate type III; PPKP3|NTIA|aganglionosis, total colonic|palmoplantar keratoderma, punctate type III|ake|acrokeratoelastoidosis|TIA|near-total intestinal aganglionosis	http://purl.obolibrary.org/obo/MONDO_0007047	Acrokeratoelastoidosis of Costa is a rare dermatosis characterized by small, firm papules or plaques (resembling warts) on the sides of the hands and feet. These stationary and asymptomatic lesions appear generally at puberty, or sometimes later	MESH:C535653|DOID:0060362|ORPHA:38|UMLS:C0545044|http://identifiers.org/omim/101850
MONDO:0020024	obsolete rare infertility	biolink:Disease	mondo	Orphanet:98047|UMLS:CN227735	ordo_group_of_disorders|obsoletion_candidate	rare infertility disorder|rare infertility	http://purl.obolibrary.org/obo/MONDO_0020024	Rare infertility.	ORPHA:98047|UMLS:CN227735
MONDO:0007048	acrokeratosis verruciformis	biolink:Disease	mondo	NCIT:C27519|UMLS:C0265971|OMIM:101900|EFO:1000666|ICD10:Q82.8|MedDRA:10069445|Orphanet:79151|DOID:0050606|ICD9:757.39|SCTID:400085009	ordo_disease	AKV|AKV of Hopf|Hopf disease|acrokeratosis verruciformis; AKV|acrokeratosis verruciformis|acrokeratosis verruciformis of Hopf	http://purl.obolibrary.org/obo/MONDO_0007048	A rare genetic skin keratinization disorder with an autosomal dominant mode of inheritance. It is characterized by numerous flesh-colored warty papules on the back of the hands, medial aspect of the feet, knees, and elbows.	MEDDRA:10069445|NCIT:C27519|SNOMEDCT:400085009|http://identifiers.org/omim/101900|DOID:0050606|UMLS:C0265971|ORPHA:79151
MONDO:0007045	acrofacial dysostosis, Catania type	biolink:Disease	mondo	DOID:0060384|SCTID:720419000|GARD:0000494|ICD10:Q75.4|MESH:C538182|UMLS:C2931762|Orphanet:1786|OMIM:101805	ordo_malformation_syndrome	Afd, Catania type|AFD Catania type|Opitz Mollica Sorge syndrome|acrofacial dysostosis, Catania type|Opitz-Caltabiano syndrome|acrofacial dysostosis Catania type	http://purl.obolibrary.org/obo/MONDO_0007045	Acrofacialdysostosis, Catania type is a very rare type of acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males.	DOID:0060384|UMLS:C2931762|MESH:C538182|http://identifiers.org/omim/101805|SNOMEDCT:720419000|ORPHA:1786
MONDO:0020023	respiratory or mediastinal malformation	biolink:Disease	mondo	Orphanet:98045	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020023		ORPHA:98045
MONDO:0007046	hereditary papulotranslucent acrokeratoderma	biolink:Disease	mondo	DOID:0060360|OMIM:101840|UMLS:C1863343|EFO:1000708|MESH:C566323		acrokeratoderma, hereditary papulotranslucent	http://purl.obolibrary.org/obo/MONDO_0007046	A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis.	DOID:0060360|UMLS:C1863343|http://identifiers.org/omim/101840|MESH:C566323
MONDO:0044033	posterior leukoencephalopathy syndrome	biolink:Disease	mondo	EFO:1001804|SCTID:450886002|MESH:D054038|NCIT:C78598		leukoencephalopathy syndrome, Posterior|syndrome, Posterior leukoencephalopathy|syndromes, Posterior leukoencephalopathy|Posterior reversible encephalopathy syndrome|RPLE|reversible occipital parietal encephalopathy|reversible posterior leukoencephalopathy syndrome|leukoencephalopathy syndromes, Posterior|PRES|posterior reversible encephalopathy syndrome|reversible Posterior cerebral edema syndrome|reversible Posterior leukoencephalopathy syndrome	http://purl.obolibrary.org/obo/MONDO_0044033	An acute or subacute reversible condition characterized by headaches, mental status changes, visual disturbances, and seizures associated with imaging findings of posterior leukoencephalopathy. It has been observed in association with hypertensive encephalopathy, eclampsia, and immunosuppressive and cytotoxic drug treatment.	SNOMEDCT:450886002|NCIT:C78598|MESH:D054038
MONDO:0020022	central nervous system malformation	biolink:Disease	mondo	MESH:D009421|Orphanet:98044	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020022		ORPHA:98044|MESH:D009421
MONDO:0007043	Pfeiffer syndrome	biolink:Disease	mondo	OMIM:101600|SCTID:70410008|NCIT:C99100|ICD10:Q87.0|Orphanet:710|GARD:0007380|UMLS:C0220658|DOID:14705	gard_rare|ordo_malformation_syndrome	craniofacial-skeletal-Dermatologic dysplasia|ACS 5|acrocephalosyndactylia type V|Pfeiffer type acrocephalosyndactyly|type V Acrocephalosyndactyly|acrocephalosyndactyly type 5|ACS5|Pfeiffer syndrome|acrocephalosyndactyly type V|acrocephalosyndactyly, type 5|Noack syndrome	http://purl.obolibrary.org/obo/MONDO_0007043	Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations.	UMLS:C0220658|UMLS:C2931888|SNOMEDCT:70410008|MESH:C538582|http://identifiers.org/omim/101600|ORPHA:710|DOID:14705|NCIT:C99100
MONDO:0020021	diaphragmatic or abdominal wall malformation	biolink:Disease	mondo	Orphanet:98043	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020021		ORPHA:98043
MONDO:0007044	acrodysostosis 1 with or without hormone resistance	biolink:Disease	mondo	UMLS:C3276228|OMIM:101800|NCIT:C136464		acrodysostosis 1|ADOHR|ACRDYS1|acrodysostosis 1 with or without hormone resistance|acrodysostosis 1 with or without hormone resistance; ACRDYS1	http://purl.obolibrary.org/obo/MONDO_0007044	An autosomal dominant skeletal dysplasia caused by mutation(s) in the PRKAR1A gene, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. It is characterized by short stature, brachydactyly, and characteristic facial features. Resistance to multiple hormones is a common finding.	UMLS:C3276228|NCIT:C136464|http://identifiers.org/omim/101800
MONDO:0020020	visceral malformation of the liver, biliary tract, pancreas or spleen	biolink:Disease	mondo	Orphanet:98041	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020020		ORPHA:98041
MONDO:0007041	apert syndrome	biolink:Disease	mondo	SCTID:205258009|MESH:D000168|MedDRA:10002943|OMIM:101200|Orphanet:87|GARD:0005833|UMLS:C0001193|NCIT:C99099|ICD10:Q87.0	ordo_malformation_syndrome	syndactylic oxycephaly|type I Acrocephalosyndactyly|ACS 2|ACS 1|acrocephalosyndactyly type I|apert syndrome|acrocephalo-syndactyly type 1|acrocephalosyndactyly, type 2|apert-Crouzon disease|acrocephalosyndactyly type 1|acrocephalosyndactyly, type 1|Vogt Cephalodactyly|ACS1	http://purl.obolibrary.org/obo/MONDO_0007041	Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly.	ORPHA:87|SNOMEDCT:205258009|MEDDRA:10002943|http://identifiers.org/omim/101200|UMLS:C0001193|MESH:D000168|NCIT:C99099
MONDO:0007042	Saethre-Chotzen syndrome	biolink:Disease	mondo	ICD10:Q87.0|GARD:0007598|OMIM:101400|NCIT:C75034|UMLS:C0175699|SCTID:83015004|Orphanet:794|EFO:0007029|DOID:14768	gard_rare|ordo_malformation_syndrome	Saethre-Chotzen syndrome with eyelid anomalies|Chotzen syndrome|ACS3|blepharophimosis, epicanthus inversus, and ptosis 3|Saethre-Chotzen syndrome; SCS|Saethre-Chotzen syndrome|ACS 3|SCS|type III Acrocephalosyndactyly|acrocephalosyndactyly type 3|acrocephalosyndactyly type III|acrocephaly, skull asymmetry, and mild syndactyly|blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)|acrocephalo-syndactyly, type 3|acrocephalosyndactyly, type 3|blepharophimosis, epicanthus inversus, and ptosis 3, formerly	http://purl.obolibrary.org/obo/MONDO_0007042	Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.	http://identifiers.org/omim/101400|UMLS:C0175699|NCIT:C75034|SNOMEDCT:83015004|ORPHA:794|DOID:14768
PATO:0000141	structure	biolink:OntologyClass	mondo			relational structural quality|conformation	http://purl.obolibrary.org/obo/PATO_0000141	A morphology quality inhering in a bearer by virtue of the bearer's relative position, shape, arrangements and connectivity of an organism's various parts; the pattern underlying its form.	
MONDO:0007040	Sakati-Nyhan syndrome	biolink:Disease	mondo	ICD10:Q87.0|MESH:C537227|OMIM:101120|DOID:0060359|GARD:0000115|SCTID:403768004|UMLS:C1275079|Orphanet:3128	gard_rare	ACPS3|Sakati-Nyhan syndrome|acrocephalopolysyndactyly type III|acrocephalopolysyndactyly type III|ACPS 3|ACPS with leg hypoplasia|acrocephalopolysyndactyly type 3|Sakati syndrome|Sakati-Nyhan-Tisdale syndrome|acrocephalopolysyndactyly type 3	http://purl.obolibrary.org/obo/MONDO_0007040	An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections.	ORPHA:3128|http://identifiers.org/omim/101120|SNOMEDCT:403768004|MESH:C537227|DOID:0060359|UMLS:C1275079
PATO:0000140	position	biolink:OntologyClass	mondo			relational spatial quality|location|placement	http://purl.obolibrary.org/obo/PATO_0000140	A spatial quality inhering in a bearer by virtue of the bearer's spatial location relative to other objects in the vicinity.	
MONDO:0020019	digestive tract malformation	biolink:Disease	mondo	Orphanet:98039	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020019		ORPHA:98039
MONDO:0020018	cranial malformation	biolink:Disease	mondo	Orphanet:98038	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020018		ORPHA:98038
MONDO:0020017	obsolete rare otorhinolaryngologic disease	biolink:Disease	mondo	UMLS:CN206950|Orphanet:98036	obsoletion_candidate|ordo_group_of_disorders	rare head and neck disease|rare otorhinolaryngologic disease	http://purl.obolibrary.org/obo/MONDO_0020017	Any of the forms of otorhinolaryngologic disease that have a rare incidence.	UMLS:CN206950|ORPHA:98036
MONDO:0019038	rare maxillo-facial surgical disease	biolink:Disease	mondo	UMLS:CN205523|Orphanet:68329	obsoletion_candidate|ordo_group_of_disorders	rare maxillofacial anomaly	http://purl.obolibrary.org/obo/MONDO_0019038		UMLS:CN205523|ORPHA:68329
MONDO:0019037	progressive supranuclear palsy	biolink:Disease	mondo	NCIT:C85028|Orphanet:683|UMLS:C0038868|MedDRA:10036813|GARD:0007471|SCTID:28978003|ICD10:G23.1|ICD9:333.0|MESH:D013494|UMLS:CN205522|DOID:678	ordo_disease	progressive supranuclear ophthalmoplegia|familial progressive supranuclear palsy (type)|PSP syndrome|Steele-Richardson-Olszewski syndrome|supranuclear palsy, progressive	http://purl.obolibrary.org/obo/MONDO_0019037	Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia.	NCIT:C85028|UMLS:CN205522|SNOMEDCT:28978003|MEDDRA:10036813|MESH:D013494|DOID:678|UMLS:C0038868|ORPHA:683
GO:0030594	neurotransmitter receptor activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0030594	Combining with a neurotransmitter and transmitting the signal to initiate a change in cell activity.	
MONDO:0019039	rare hemorrhagic disorder due to a constitutional coagulation factors defect	biolink:Disease	mondo	UMLS:CN227563|Orphanet:68334	ordo_group_of_disorders|obsoletion_candidate	rare bleeding disorder due to a constitutional coagulation factors defect|rare coagulopathy due to a constitutional coagulation factors defect	http://purl.obolibrary.org/obo/MONDO_0019039		UMLS:CN227563|ORPHA:68334
GO:0030595	leukocyte chemotaxis	biolink:OntologyClass	mondo			immune cell chemotaxis|leucocyte chemotaxis	http://purl.obolibrary.org/obo/GO_0030595	The movement of a leukocyte in response to an external stimulus.	
MONDO:0019034	accessory pancreas	biolink:Disease	mondo	ICD10:Q45.3|Orphanet:674|SCTID:79037006|GARD:0000454|MESH:C536003	ordo_morphological_anomaly|gard_rare	pancreas accessorium	http://purl.obolibrary.org/obo/MONDO_0019034	Accessory pancreas is an asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely, the gastric wall, ileum, gallbladder or spleen.	SNOMEDCT:79037006|UMLS:C0266268|MESH:C536003|ORPHA:674
MONDO:0019033	primary cutis verticis gyrata	biolink:Disease	mondo	SCTID:51603000|UMLS:C0263417|ICD9:757.39|GARD:0001643|Orphanet:671|ICD10:Q82.8	ordo_group_of_disorders|gard_rare	cutis verticis gyrata	http://purl.obolibrary.org/obo/MONDO_0019033	Cutis verticis gyrata (CVG) is a progressive cutaneous disorder predominantly affecting males and characterized by hypertrophy and thickening of the skin of the scalp forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. CG can be isolated (essential CVG) or associated with other abnormalities such as intellectual deficit, epilepsy, cataract, blindness, and deafness (non essential CVG).	SNOMEDCT:51603000|ORPHA:671|UMLS:C0263417
GO:0030593	neutrophil chemotaxis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0030593	The directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding.	
MONDO:0019036	amoebiasis due to free-living amoebae	biolink:Disease	mondo	GARD:0012650|UMLS:CN205519|ICD10:B60.2|ICD10:B60.1|Orphanet:68	ordo_disease|gard_rare		http://purl.obolibrary.org/obo/MONDO_0019036	Free-living amebae belonging to the genera Acanthamoeba, Balamuthia, Naegleria and Sappinia are important causes of disease in humans and animals. Naegleria fowleri produces an acute, and usually lethal, central nervous system (CNS) disease called primary amebic meningoencephalitis (PAM). Acanthamoeba spp. and Balamuthia mandrillaris are opportunistic free-living amebae capable of causing granulomatous amebic encephalitis (GAE) in individuals with compromised immune systems. Sappinia pedata has been implicated in a case of amebic encephalitis. Naegleria fowleri and Acanthamoeba spp., are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units.	UMLS:CN205519|ORPHA:68
MONDO:0019035	pancreatoblastoma	biolink:Disease	mondo	MESH:C537162|UMLS:C0334489|GARD:0004210|NCIT:C4265|EFO:1000446|ICD10:C25.1|DOID:6823|ONCOTREE:PB|Orphanet:677	gard_rare|ordo_disease	PB|pancreatoblastoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0019035	Pancreatoblastoma is a rare malignant epithelial pancreatic neoplasm, most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting abdominal pain, jaundice, and weight loss/failure to thrive, and is characterized histologically by multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests.	NCIT:C4265|UMLS:C0334489|MESH:C537162|DOID:6823|ORPHA:677
MONDO:0022672	autosomal dominant cataract	biolink:Disease	mondo	GARD:0001143	gard_rare	cataract congenital autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0022672	A syndromic cataract that has autosomal dominant inheritance.	
MONDO:0019021	obsolete pigmented villonodular synovitis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019021		
MONDO:0022673	autosomal dominant non-nuclear cataract	biolink:Disease	mondo	MESH:C538284|GARD:0001144	gard_rare	cataract congenital dominant non nuclear|autosomal dominant nonnuclear polymorphic congenital cataract|cataract, Nonnuclear polymorphic congenital, autosomal dominant|cataract, polymorphic congenital|PCC|CCP	http://purl.obolibrary.org/obo/MONDO_0022673		MESH:C538284
MONDO:0019020	PANDAS	biolink:Disease	mondo	UMLS:CN205481|MESH:C537163|Orphanet:66624|GARD:0007312	ordo_disease	pediatric autoimmune disorders associated with Streptococcus infections|pediatric autoimmune neuropsychiatric disorder associated with Streptococcus|pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections|pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections	http://purl.obolibrary.org/obo/MONDO_0019020	PANDAS is an acronym for Pediatric Autoimmune Neuropsychiatric Disorders Associated with a group A beta-hemolytic Streptococcal infection and applied to a subgroup of children with obsessive-compulsive disorder (OCD) and/or tic disorders.	ORPHA:66624|UMLS:CN205481|MESH:C537163
MONDO:0022675	cataract skeletal anomalies	biolink:Disease	mondo	GARD:0001158	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022675		
MONDO:0022676	cataract - glaucoma	biolink:Disease	mondo	GARD:0001160	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022676		
MONDO:0020016	rare neurologic disease with psychiatric involvement	biolink:Disease	mondo	Orphanet:98033|UMLS:CN206949	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0020016		ORPHA:98033|UMLS:CN206949
MONDO:0010689	Charcot-Marie-Tooth disease X-linked recessive 4	biolink:Disease	mondo	DOID:0110212|GARD:0001240|ICD10:G60.0|SCTID:763400005|Orphanet:101078|OMIM:310490	ordo_disease	CMT4X|Charcot-Marie-Tooth disease with deafness and intellectual disability|axonal motor sensory neuropathy with deafness and mental retardation|Charcot-Marie-Tooth disease, X-linked recessive, 4|cowchock syndrome|CMTX 4|cowchock syndrome; COWCK|Charcot-Marie-Tooth disease with deafness and mental retardation|NAMSD|Charcot-Marie-Tooth disease X-linked recessive type 4|neuropathy, axonal motor-sensory, with deafness and mental retardation|neuropathy, axonal motor-sensory with deafness and mental retardation|CMTX4|axonal motor sensory neuropathy with deafness and intellectual disability|NADMR|COWCK|neuropathy, axonal motor-sensory with deafness and intellectual disability|X-linked Charcot-Marie-Tooth disease type 4|neuropathy, axonal motor-sensory, with deafness and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0010689	X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype.	http://identifiers.org/omim/310490|SNOMEDCT:763400005|DOID:0110212|ORPHA:101078
MONDO:0020015	obsolete rare circulatory system disease	biolink:Disease	mondo	Orphanet:98028|UMLS:CN206948	obsoletion_candidate|ordo_group_of_disorders	rare cardiovascular disease	http://purl.obolibrary.org/obo/MONDO_0020015	A rare form of cardiovascular disease.	ORPHA:98028|UMLS:CN206948
MONDO:0007058	acropectorovertebral dysplasia	biolink:Disease	mondo	OMIM:102510|Orphanet:957|ICD10:Q74.8|MESH:C566319|UMLS:C1863307|GARD:0000512|SCTID:720457000	ordo_malformation_syndrome|gard_rare	acropectorovertebral dysplasia; ACRPV|acropectorovertebral dysplasia F form|acropectorovertebral dysplasia|ACRPV|F syndrome	http://purl.obolibrary.org/obo/MONDO_0007058	Acropectorovertebral dysplasia is a skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).	SNOMEDCT:720457000|UMLS:C1863307|http://identifiers.org/omim/102510|MESH:C566319|ORPHA:957
MONDO:0020014	rare disease with odontological manifestation	biolink:Disease	mondo	UMLS:CN206947|Orphanet:98027	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020014		ORPHA:98027|UMLS:CN206947
MONDO:0007059	acrorenal syndrome	biolink:Disease	mondo	OMIM:102520|ICD10:Q87.2|MESH:C563159|UMLS:CN206860|UMLS:C3495490|DOID:0060347|Orphanet:971|SCTID:720458005	ordo_malformation_syndrome	acrorenal syndrome	http://purl.obolibrary.org/obo/MONDO_0007059	Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected.	DOID:0060347|SNOMEDCT:720458005|UMLS:CN206860|http://identifiers.org/omim/102520|UMLS:C3495490|ORPHA:971|MESH:C563159
MONDO:0020013	rare odontologic disease	biolink:Disease	mondo	UMLS:CN206946|Orphanet:98026	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020013		ORPHA:98026|UMLS:CN206946
MONDO:0007056	acroosteolysis	biolink:Disease	mondo	MESH:D030981|NCIT:C35545|OMIM:102400|SCTID:27201004		acroosteolysis	http://purl.obolibrary.org/obo/MONDO_0007056	A condition that is characterized by degeneration of the distal phalanges.	http://identifiers.org/omim/102400|SNOMEDCT:27201004|NCIT:C35545|MESH:D030981
MONDO:0020012	systemic or rheumatic disease	biolink:Disease	mondo	UMLS:CN206945|Orphanet:98023	ordo_group_of_disorders	rare systemic or rheumatologic disease	http://purl.obolibrary.org/obo/MONDO_0020012		ORPHA:98023|UMLS:CN206945
MONDO:0020011	obsolete rare headache disorder	biolink:Disease	mondo	Orphanet:98022	obsoletion_candidate|ordo_group_of_disorders	rare headache|rare headache disorder	http://purl.obolibrary.org/obo/MONDO_0020011	Rare headache disorder.	ORPHA:98022
MONDO:0007057	acroosteolysis dominant type	biolink:Disease	mondo	GARD:0000508|NCIT:C84745|UMLS:C0917715|Orphanet:955|ICD10:M89.5|DOID:2736|UMLS:C2930971|ICD9:756.59|OMIM:102500|SCTID:63122002|MESH:C535663	ordo_malformation_syndrome|gard_rare	HJCYS|acroosteolysis with osteoporosis and changes in skull and mandible|Hajdu-Cheney syndrome; HJCYS|serpentine fibula-polycystic kidneys syndrome|Hajdu-Cheney syndrome|acrodentoosteodysplasia|acroosteolysis with osteoporosis and changes in skull and mandible|Cheney syndrome|Arthrodentoosteodysplasia|serpentine fibula-polycystic kidney syndrome	http://purl.obolibrary.org/obo/MONDO_0007057	Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.	DOID:2736|NCIT:C84745|http://identifiers.org/omim/102500|SNOMEDCT:63122002|MESH:C531695|UMLS:C2930971|MESH:D031845|UMLS:C0917715|ORPHA:955|MESH:C535663
MONDO:0020010	infectious disease of the nervous system	biolink:Disease	mondo	SCTID:128116006|ICD9:349.89|NCIT:C27590|Orphanet:98010|UMLS:C0597039	ordo_group_of_disorders	nervous system infectious disease|nervous system infectious disorder	http://purl.obolibrary.org/obo/MONDO_0020010	A infectious disease that involves the nervous system.	UMLS:C0597039|ORPHA:98010|SNOMEDCT:128116006|NCIT:C27590
MONDO:0007054	acromial dimples	biolink:Disease	mondo	UMLS:C1863321|OMIM:102350		acromial dimples|supraspinous fossae, congenital	http://purl.obolibrary.org/obo/MONDO_0007054		http://identifiers.org/omim/102350|UMLS:C1863321
MONDO:0007055	acromicric dysplasia	biolink:Disease	mondo	ICD10:Q77.8|DOID:0111243|GARD:0000007|Orphanet:969|ICD9:756.59|SCTID:254090007|OMIM:102370|MESH:C535662	ordo_malformation_syndrome|gard_rare	acromicric dysplasia; ACMICD|acromicric dysplasia|ACMICD|acromicric skeletal dysplasia	http://purl.obolibrary.org/obo/MONDO_0007055	Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.	http://identifiers.org/omim/102370|UMLS:C0265287|DOID:0111243|SNOMEDCT:254090007|ORPHA:969|MESH:C535662
MONDO:0007052	growth hormone secreting pituitary adenoma 1	biolink:Disease	mondo	OMIM:102200|GARD:0010959		Somatotrophinoma, familial|somatotropinoma, familial isolated|PAGH1|PITA1|pituitary adenoma 1, multiple types; PITA1|pituitary adenoma, familial isolated|pituitary adenoma, growth hormone-secreting, 1; PAGH1|isolated familial somatotropinoma|pituitary adenoma, growth hormone-secreting, 1|pituitary adenoma predisposition|pituitary adenoma 1, multiple types|pituitary adenoma, growth hormone-secreting, type 1|familial isolated pituitary adenoma syndrome|acromegaly due to pituitary adenoma 1	http://purl.obolibrary.org/obo/MONDO_0007052		http://identifiers.org/omim/102200
MONDO:0010693	nystagmus 1, congenital, X-linked	biolink:Disease	mondo	UMLS:C1839580|OMIM:310700|GARD:0002969	gard_rare	nystagmus 1, congenital, X-linked|Nystagmus, infantile idiopathic, formerly|NYSTAGMUS 1, congenital, X-linked; NYS1|Nystagmus, infantile idiopathic|Nystagmus 1, infantile, X-linked|Nystagmus 1, congenital, X- linked|Xlpan|congenital nystagmus caused by mutation in FRMD7|Nystagmus, congenital motor, 1|NYS1|Nystagmus, infantile periodic alternating, X-linked|FRMD7 congenital nystagmus	http://purl.obolibrary.org/obo/MONDO_0010693	Any congenital nystagmus in which the cause of the disease is a mutation in the FRMD7 gene.	http://identifiers.org/omim/310700|UMLS:C1839580
MONDO:0007053	restless legs syndrome 1	biolink:Disease	mondo	MESH:C538443|UMLS:C3888109|GARD:0009709|OMIM:102300	predisposition	restless legs syndrome, susceptibility to, 1|RLS1|acromelalgia, hereditary|Ekbom syndrome|restless legs syndrome, susceptibility to, 1; RLS1	http://purl.obolibrary.org/obo/MONDO_0007053		http://identifiers.org/omim/102300|UMLS:C3888109|MESH:C538443
MONDO:0010692	nuclear ribonucleic acid	biolink:Disease	mondo	OMIM:310650		nuclear ribonucleic acid|nuclear ribonucleic acid; nRNA|nRNA	http://purl.obolibrary.org/obo/MONDO_0010692		http://identifiers.org/omim/310650
MONDO:0007050	acromegaloid changes, cutis verticis gyrata, and corneal leukoma	biolink:Disease	mondo	Orphanet:964|GARD:0000500|UMLS:CN225973|OMIM:102100|MESH:C535654	gard_rare	acromegaloid changes, cutis verticis gyrata and corneal leukoma|Rosenthal-Kloepfer syndrome|acromegaloid changes, cutis verticis gyrata, and corneal leukoma|acromegaly-cutis verticis gyrata-corneal leukoma syndrome	http://purl.obolibrary.org/obo/MONDO_0007050		http://identifiers.org/omim/102100|UMLS:CN225973|ORPHA:964|MESH:C535654
MONDO:0010695	occipital hair, white lock of	biolink:Disease	mondo	OMIM:310900		occipital hair, white lock of	http://purl.obolibrary.org/obo/MONDO_0010695		http://identifiers.org/omim/310900
MONDO:0007051	acromegaloid facial appearance syndrome	biolink:Disease	mondo	SCTID:720456009|ICD10:Q87.0|MESH:C535655|GARD:0000501|UMLS:C0796280|OMIM:102150|Orphanet:965	gard_rare|ordo_malformation_syndrome	AFA syndrome|acromegaloid facial appearance syndrome|thick lips and oral mucosa	http://purl.obolibrary.org/obo/MONDO_0007051	Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome.	http://identifiers.org/omim/102150|SNOMEDCT:720456009|UMLS:C0796280|ORPHA:965|MESH:C535655
MONDO:0010694	nystagmus, myoclonic	biolink:Disease	mondo	GARD:0009605|MESH:C564088|UMLS:C1839579|OMIM:310800	gard_rare	nystagmus, myoclonic|myoclonic nystagmus	http://purl.obolibrary.org/obo/MONDO_0010694		UMLS:C1839579|http://identifiers.org/omim/310800|MESH:C564088
MONDO:0020009	obsolete rare neurologic disease	biolink:Disease	mondo	UMLS:CN206943|Orphanet:98006	obsoletion_candidate|ordo_group_of_disorders	rare nervous system disorder|rare nervous system disease	http://purl.obolibrary.org/obo/MONDO_0020009	Rare nervous system disease.	UMLS:CN206943|ORPHA:98006
MONDO:0010697	OPEM	biolink:Disease	mondo	UMLS:C1839577|OMIM:311000|MESH:C564087		ophthalmoplegia, external, and myopia; OPEM|OPEM|myopia-ophthalmoplegia syndrome|ophthalmoplegia, external, and myopia	http://purl.obolibrary.org/obo/MONDO_0010697		http://identifiers.org/omim/311000|MESH:C564087|UMLS:C1839577
MONDO:0010696	omphalocele, X-linked	biolink:Disease	mondo	OMIM:310980|UMLS:C3275625		omphalocele, X-linked	http://purl.obolibrary.org/obo/MONDO_0010696		http://identifiers.org/omim/310980|UMLS:C3275625
MONDO:0020008	obsolete rare immune disease	biolink:Disease	mondo	UMLS:CN206942|Orphanet:98004	obsoletion_candidate|ordo_group_of_disorders	rare immune system disease	http://purl.obolibrary.org/obo/MONDO_0020008	Rare immune system disease.	UMLS:CN206942|ORPHA:98004
MONDO:0010699	Charcot-Marie-Tooth disease X-linked recessive 5	biolink:Disease	mondo	Orphanet:99014|DOID:0110210|OMIM:311070|ICD10:G60.0|UMLS:C1839566|GARD:0000114|SCTID:763460007	clingen|gard_rare|ordo_disease	optic atrophy, sensorineural hearing loss and polyneuropathy|CMT5X|Charcot-Marie-Tooth disease, X-linked recessive, type 5|optic atrophy, polyneuropathy, and deafness|Charcot-Marie-Tooth neuropathy X type 5|Charcot-Marie-Tooth disease, X-linked recessive, 5|Charcot-Marie-Tooth disease X-linked recessive type 5|Charcot-Marie-Tooth neuropathy, X-linked recessive, 5|CMTX5|familial opticoacoustic nerve degeneration and polyneuropathy|X-linked Charcot-Marie-Tooth disease type 5|Charcot-Marie-Tooth disease, X-linked recessive, 5; CMTX5|Charcot-Marie-Tooth neuropathy X-linked recessive 5|Rosenberg-Chutorian syndrome	http://purl.obolibrary.org/obo/MONDO_0010699	X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype.	http://identifiers.org/omim/311070|ORPHA:99014|SNOMEDCT:763460007|UMLS:C1839566|DOID:0110210
MONDO:0020007	absence of the pulmonary artery	biolink:Disease	mondo	Orphanet:980|ICD10:Q25.7|UMLS:CN206941	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0020007	Unilateral absence of the pulmonary artery (UAPA) is a rare congenital great vessels anomaly that commonly presents by dyspnea, frequent respiratory infections, hemoptysis and high-altitude pulmonary edema. UAPA is often associated with congenital heart malformation (CHM). In the absence of associated cardiac malformation (isolated UAPA; IUAPA), the condition may be asymptomatic until adult age.	UMLS:CN206941|ORPHA:980
MONDO:0010698	optic atrophy 2	biolink:Disease	mondo	Orphanet:98890|SCTID:721200000|OMIM:311050|MESH:C537125|UMLS:C1839576|GARD:0010199|DOID:0111443|ICD10:H47.2	ordo_disease	optic atrophy 2; OPA2|optic atrophy, non-Leber type, with early onset|optic atrophy type 2|non-Leber type optic atrophy with early-onset|optic atrophy, X-linked|OPA2|optic atrophy 2	http://purl.obolibrary.org/obo/MONDO_0010698	Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.	http://identifiers.org/omim/311050|MESH:C537125|UMLS:C1839576|ORPHA:98890|SNOMEDCT:721200000|DOID:0111443
MONDO:0020006	obsolete rare hematologic disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0020006		
MONDO:0019027	otopalatodigital syndrome	biolink:Disease	mondo	ICD10:Q87.0|UMLS:CN205496|SCTID:767130007|Orphanet:669|GARD:0007293	ordo_malformation_syndrome	type 2 (Andre syndrome)|oto-palatal-digital syndrome|Taybi syndrome|oto-palato-digital syndrome	http://purl.obolibrary.org/obo/MONDO_0019027	Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome, characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders.	SNOMEDCT:767130007|UMLS:CN205496|ORPHA:669
MONDO:0019026	autosomal recessive osteopetrosis	biolink:Disease	mondo	Orphanet:667|ICD10:Q78.2|SCTID:367489004|NCIT:C129733|OMIMPS:259700	ordo_malformation_syndrome	autosomal recessive malignant osteopetrosis|osteopetrosis (disease), autosomal recessive|autosomal recessive osteopetrosis|infantile malignant osteopetrosis|OPTB|autosomal recessive osteopetrosis (disease)|malignant osteopetrosis	http://purl.obolibrary.org/obo/MONDO_0019026	An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration.	SNOMEDCT:367489004|UMLS:C1318518|NCIT:C129733|ORPHA:667
MONDO:0019029	segmental odontomaxillary dysplasia	biolink:Disease	mondo	ICD9:524.89|ICD10:K00.4|Orphanet:67039|SCTID:699756005	ordo_disease	SOD	http://purl.obolibrary.org/obo/MONDO_0019029	Segmental odontomaxillary dysplasia (SOD) is a rare disorder characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region from the back of the canines to the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and delayed eruption occur.	ORPHA:67039|SNOMEDCT:699756005
MONDO:0019028	amoebiasis due to Entamoeba histolytica	biolink:Disease	mondo	Orphanet:67|UMLS:C2930799|MESH:C531613|ICD10:A06.9|ICD10:A06.8|ICD10:A06.7|ICD10:A06.6|ICD10:A06.5|ICD10:A06.4|ICD10:A06.3|ICD10:A06.2|ICD10:A06.1|ICD10:A06.0	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019028	A parasitic disease caused by the protozoa, Entamoeba histolytica, mainly occurring in tropical regions after the ingestion of an amoebic cyst, and resulting in clinical manifestations that may range from an asymptomatic state to amoebic colitis (violent abdominal pain, a painful contracted feeling around the anal sphincter, blood and mucus in the stools but without the presence of fever), or amoebic liver abscesses (fever, chills, abdominal pain, weight loss, hepatomegaly) that can be fatal if not immediately treated. Extraintestinal involvement elsewhere (i.e. thoracic, hepatic) is extremely rare.	ORPHA:67|UMLS:C2930799|MESH:C531613
MONDO:0019023	cutaneous mastocytosis	biolink:Disease	mondo	ICDO:9740/1|MESH:D034701|UMLS:C1136033|ONCOTREE:CMCD|NCIT:C7137|EFO:1000886|SCTID:397012002|HP:0200151|ICD10:Q82.2|GARD:0007842|Orphanet:66646|DOID:3663	ordo_group_of_disorders	CMCD|cutaneous mastocytosis|CM|cutaneous (skin) mastocytosis|cutaneous mastocytosis (disease)	http://purl.obolibrary.org/obo/MONDO_0019023	Cutaneous mastocytosis is a term referring to a group of diseases characterized by abnormal accumulation and proliferation of skin mastocytes. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis.	DOID:3663|ORPHA:66646|SNOMEDCT:397012002|MESH:D034701|UMLS:C1136033|NCIT:C7137
NCBITaxon:499556	Chapare mammarenavirus	organism taxon	mondo	GC_ID:1		Chapare virus	http://purl.obolibrary.org/obo/NCBITaxon_499556		
MONDO:0019022	sensorineural hearing loss-early graying-essential tremor syndrome	biolink:Disease	mondo	Orphanet:66633|UMLS:CN205488	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0019022	Sensorineural hearing loss-early graying-essential tremor syndrome is characterised by the combination of sensorineural hearing loss, early greying of scalp hair and adult onset essential tremor.	ORPHA:66633|UMLS:CN205488
MONDO:0019025	extracutaneous mastocytoma	biolink:Disease	mondo	ICDO:9740/1|Orphanet:66662|EFO:1000932|ICD10:C96.2|NCIT:C7136|DOID:4659|SCTID:63175003|UMLS:C0272202	ordo_disease	extracutaneous mastocytoma	http://purl.obolibrary.org/obo/MONDO_0019025	A localized tumor consisting of mature mast cells. (WHO, 2001) -- 2003	ORPHA:66662|UMLS:C0272202|SNOMEDCT:63175003|DOID:4659|NCIT:C7136
MONDO:0010691	Norrie disease	biolink:Disease	mondo	Orphanet:649|NCIT:C118634|OMIM:310600|ICD9:743.8|MESH:C537849|MedDRA:10069760|ICD10:H35.5|GARD:0007224|SCTID:15228007|DOID:0060844	ordo_malformation_syndrome|gard_rare	ND|Norrie syndrome|Episkopi blindness|fetal iritis syndrome|atrophia bulborum hereditaria|Norrie-Warburg syndrome|NDP|Anderson-Warburg syndrome|pseudoglioma|Norrie-Warburg disease|Norrie disease|Norrie disease; nd	http://purl.obolibrary.org/obo/MONDO_0010691	Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.	NCIT:C118634|UMLS:C0266526|http://identifiers.org/omim/310600|SNOMEDCT:15228007|ORPHA:649|MESH:C537849|MEDDRA:10069760|DOID:0060844
MONDO:0010690	congenital stationary night blindness 1A	biolink:Disease	mondo	OMIM:310500|DOID:0110870		nyctalopia|hemeralopia-myopia|NYX congenital stationary night blindness|night blindness, congenital stationary, type 1A|night blindness, congenital stationary, type 1A; CSNB1A|congenital stationary night blindness caused by mutation in NYX|myopia-night blindness|CSNB1A|congenital stationary night blindness with myopia|complete CSNB X-linked|NBMI|congenital stationary night blindness 1A X-linked|congenital stationary night blindness type 1A|CSNB, complete, X-linked|night blindness, congenital stationary, with myopia	http://purl.obolibrary.org/obo/MONDO_0010690	Any congenital stationary night blindness in which the cause of the disease is a mutation in the NYX gene.	http://identifiers.org/omim/310500|DOID:0110870
MONDO:0019024	mast cell sarcoma	biolink:Disease	mondo	ONCOTREE:MCSL|DOID:355|MESH:D012515|Orphanet:66661|SCTID:118615008|ICD9:202.6|ICD10:C96.2|EFO:1000364|UMLS:C0036221|NCIT:C9348|ICDO:9740/3	ordo_disease	sarcoma of mast cell|mast cell sarcoma|MCSL|mast-cell sarcoma|MCS	http://purl.obolibrary.org/obo/MONDO_0019024	A rare entity characterized by localized but destructive growth of a tumor consisting of highly atypical, immature mast cells.(WHO, 2001)	ORPHA:66661|NCIT:C9348|DOID:355|SNOMEDCT:118615008|MESH:D012515|UMLS:C0036221
MONDO:0019096	obsolete rare pulmonary hypertension	biolink:Disease	mondo	UMLS:CN227571|Orphanet:71198	obsoletion_candidate|ordo_group_of_disorders	rare pulmonary hypertension	http://purl.obolibrary.org/obo/MONDO_0019096	Rare pulmonary hypertension.	ORPHA:71198|UMLS:CN227571
MONDO:0020085	obsolete mastocytosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0020085		
MONDO:0019095	plague	biolink:Disease	mondo	ICD10:A20.3|MedDRA:10061416|ICD9:136.8|ICD10:A20.2|ICD10:A20.1|ICD10:A20.9|SCTID:58750007|ICD10:A20.0|DOID:3482|UMLS:C0032064|MESH:D010930|ICD10:A20|NCIT:C85015|ICD9:020|Orphanet:707|MedDRA:10035148|ICD10:A20.8|ICD10:A20.7|ICD9:020.9	ordo_disease	black death|infection by Yersinia pestis|plague|Yersiniosis|pestilential fever|pest	http://purl.obolibrary.org/obo/MONDO_0019095	Plague is a severe bacterial infection caused by the gram-negative bacterium Yersinia pestis.	ORPHA:707|SNOMEDCT:58750007|DOID:3482|NCIT:C85015|MEDDRA:10061416|MESH:D010930|MESH:D015009|UMLS:C0032064|UMLS:C0043407|MEDDRA:10035148
MONDO:0020084	lymphoproliferative disease associated with primary immune disease	biolink:Disease	mondo	ICD10:D47.9|Orphanet:98291|UMLS:CN206986	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020084		UMLS:CN206986|ORPHA:98291
MONDO:0020083	immunodeficiency-associated lymphoproliferative disease	biolink:Disease	mondo	ICD10:D47.9|Orphanet:98290|UMLS:CN206985	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020083		UMLS:CN206985|ORPHA:98290
MONDO:0019098	autoimmune thrombocytopenia	biolink:Disease	mondo	SCTID:128091003|ICD10:D69.3|MedDRA:10050245|UMLS:C0242584|Orphanet:71203	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019098	An autoimmune form of thrombocytopenia.	ORPHA:71203|MEDDRA:10050245|UMLS:C0242584|SNOMEDCT:128091003
MONDO:0020082	dendritic cell tumor	biolink:Disease	mondo	SCTID:737223000|ICD10:C96.4|UMLS:CN206984|GARD:0008317|Orphanet:98289	ordo_group_of_disorders|gard_rare	Dendritic cell tumor, NOS|Dendritic cell sarcoma, Not otherwise specified|Dendritic cell sarcoma, NOS|Dendritic cell neoplasm|Dendritic cell tumor, Not otherwise specified	http://purl.obolibrary.org/obo/MONDO_0020082	A dendritic cell tumor develops from the cells of the immune system. This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize). There are five subtypes of dendritic cell tumors: follicular dendritic cell tumor, interdigitating dendritic cell tumor, Langerhans' cell histiocytosis, Langerhans' cell sarcoma, and dendritic cell sarcoma not specified otherwise. The symptoms and severity of the condition depend on the subtype and location of the tumor. Treatment may include surgery, radiation therapy, and/or chemotherapy.	UMLS:CN206984|ORPHA:98289|SNOMEDCT:737223000
MONDO:0019097	hemorrhagic disorder due to a constitutional platelet anomaly	biolink:Disease	mondo	Orphanet:71202|ICD10:D69.1|UMLS:CN227572	ordo_group_of_disorders|obsoletion_candidate	rare hemorrhagic disorder due to a constitutional platelet anomaly|rare hemorrhagic disorder due to a constitutional thrombopathy and/or thrombocytopenia|rare bleeding disorder due to a constitutional platelet anomaly|rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia|rare coagulopathy due to a constitutional platelet anomaly|rare coagulopathy due to a constitutional thrombopathy and/or thrombocytopenia	http://purl.obolibrary.org/obo/MONDO_0019097	A hemorrhagic disorder due to a platelet anomaly which occurs from birth.	ORPHA:71202|UMLS:CN227572
MONDO:0020081	macrophage or histiocytic tumor	biolink:Disease	mondo	UMLS:CN206983|Orphanet:98288	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020081		UMLS:CN206983|ORPHA:98288
MONDO:0019092	infantile apnea	biolink:Disease	mondo	Orphanet:70590|UMLS:C0745261|UMLS:CN205590|GARD:0006779|SCTID:724229002	ordo_disease	apnea of infancy	http://purl.obolibrary.org/obo/MONDO_0019092	Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea.	UMLS:C0745261|ORPHA:70590|UMLS:CN205590|SNOMEDCT:724229002
MONDO:0019091	bronchopulmonary dysplasia	biolink:Disease	mondo	SCTID:67569000|GARD:0005962|MedDRA:10006475|MESH:D001997|UMLS:C0006287|ICD10:P27.1|Orphanet:70589|NCIT:C90599	ordo_malformation_syndrome|gard_rare	BPD	http://purl.obolibrary.org/obo/MONDO_0019091	Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring.	UMLS:C0006287|NCIT:C90599|ORPHA:70589|SNOMEDCT:67569000|MEDDRA:10006475|MESH:D001997
MONDO:0020080	obsolete histiocytic and dendritic cell tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0020080		
MONDO:0019094	congenital Epstein-Barr virus infection	biolink:Disease	mondo	Orphanet:70596|UMLS:C4274357|SCTID:716660007|ICD10:P35.8	ordo_disease	congenital EBV infection|antenatal Epstein-Barr virus infection|antenatal EBV infection|mother-to-child transmission of Epstein-Barr virus infection	http://purl.obolibrary.org/obo/MONDO_0019094	Congenital Epstein-Barr virus (EBV) infection causes no clinical manifestations in the majority of infants. Indeed, the occurrence of congenital infection with EBV has never been demonstrated conclusively and must be very rare. One case have been reported to present after birth, multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy, generalized hypotonia, hepatosplenomegaly, diffuse petechiae and hematomas and multiple areas of metaphysitis of the long bones at birth. A low birth weight was also reported. No specific follow-up of the fetus is recommended following maternal EBV primary-infection.	ORPHA:70596|SNOMEDCT:716660007|UMLS:C4274357
MONDO:0019093	immunodeficiency due to selective anti-polysaccharide antibody deficiency	biolink:Disease	mondo	SCTID:234556002|Orphanet:70593|GARD:0011903|ICD10:D80.8|UMLS:C0398711	ordo_disease	specific antibody deficiency	http://purl.obolibrary.org/obo/MONDO_0019093	Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR).	ORPHA:70593|SNOMEDCT:234556002|UMLS:C0398711
MONDO:0019090	obsolete meconium aspiration syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019090		
MONDO:0020089	acquired lipodystrophy	biolink:Disease	mondo	MedDRA:10049287|ICD10:E88.1|UMLS:C0877192|Orphanet:98307	ordo_group_of_disorders	acquired lipodystrophy (disease)	http://purl.obolibrary.org/obo/MONDO_0020089	An instance of lipodystrophy (disease) that is acquired during the lifetime of the individual.	UMLS:C0877192|MEDDRA:10049287|ORPHA:98307
MONDO:0020088	familial partial lipodystrophy	biolink:Disease	mondo	DOID:0050440|ICD10:E88.1|MESH:D052496|GARD:0011962|OMIMPS:151660|NCIT:C84708|Orphanet:98306|UMLS:C0271694|SCTID:49292002	ordo_group_of_disorders	Koberling-Dunnigan syndrome|Dunnigan syndrome|FPLD|lipodystrophy, familial partial|congenital partial lipodystrophy|genetic partial lipodystrophy	http://purl.obolibrary.org/obo/MONDO_0020088	Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis.	MESH:D052496|NCIT:C84708|UMLS:C0271694|ORPHA:98306|SNOMEDCT:49292002|DOID:0050440
MONDO:0020087	genetic lipodystrophy	biolink:Disease	mondo	ICD10:E88.1|UMLS:C4511302|SCTID:724841000|Orphanet:98305	ordo_group_of_disorders	genetic lipodystrophy|genetic lipodystrophy (disease)	http://purl.obolibrary.org/obo/MONDO_0020087	Genetic lipodystrophy.	UMLS:C4511302|SNOMEDCT:724841000|ORPHA:98305
MONDO:0020086	obsolete idiopathic interstitial pneumonia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0020086		
MONDO:0019099	obsolete rare soft tissue tumor	biolink:Disease	mondo	Orphanet:71209	ordo_group_of_disorders|obsoletion_candidate	rare soft tissue neoplasm|rare mesenchymal tumor	http://purl.obolibrary.org/obo/MONDO_0019099	Any of the forms of soft tissue neoplasm that have a rare incidence.	ORPHA:71209
MONDO:0020074	progressive myoclonus epilepsy	biolink:Disease	mondo	OMIMPS:254800|MESH:D020191|DOID:891|GARD:0007140|UMLS:C0751778|Orphanet:98261|SCTID:267581004|NCIT:C7636	ordo_group_of_disorders	progressive myoclonus epilepsy|progressive myoclonic epilepsy|familial progressive myoclonic epilepsy|progressive myoclonic epilepsy (disorder) [ambiguous]|epilepsy, progressive myoclonic|PME	http://purl.obolibrary.org/obo/MONDO_0020074	A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system.	UMLS:C0751778|NCIT:C7636|MESH:D020191|ORPHA:98261|DOID:891|SNOMEDCT:267581004
MONDO:0019085	vernal keratoconjunctivitis	biolink:Disease	mondo	Orphanet:70476|GARD:0007854|UMLS:C0022577|SCTID:317349009|ICD10:H16.2	ordo_disease|gard_rare	Spring catarrh|VKC	http://purl.obolibrary.org/obo/MONDO_0019085	Vernal keratoconjunctivitis (VKC) is a chronic, severe allergy that affectsthe surfaces of the eyes. It most commonly occurs in boys living in warm, dry climates. Attacks associated with VKC are common in the spring (hence the name 'vernal') and summer but often reoccur in the winter. Signs and symptoms usually begin before 10 years of age and may include hard, cobblestone-like bumps (papillae) on the upper eyelid; sensitivity to light; redness; sticky mucus discharge; andinvoluntary blinking or spasms of the eyelid (blepharospasm).The condition usually subsides at the onset of puberty. It is caused by ahypersensitivity (allergic reaction)to airborne-allergens. Management focuses on preventing 'flare ups' and relieving the symptoms of the condition.	ORPHA:70476|UMLS:C0022577|SNOMEDCT:317349009
MONDO:0019084	radiation proctitis	biolink:Disease	mondo	ICD9:569.49|Orphanet:70475|ICD10:K62.7|SCTID:235760009|MedDRA:10037766	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019084	Radiation proctitis is a rare rectal disease directly induced by pelvic radiotherapy and characterized by rectal bleeding, change in bowel habits, tenesmus and sepsis.	ORPHA:70475|SNOMEDCT:235760009|UMLS:C0400827|MEDDRA:10037766
MONDO:0020073	adolescent-onset epilepsy syndrome	biolink:Disease	mondo	ICD10:G40.4|Orphanet:98260|UMLS:CN206977	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020073		UMLS:CN206977|ORPHA:98260
MONDO:0020072	childhood-onset epilepsy syndrome	biolink:Disease	mondo	UMLS:CN206976|Orphanet:98259|ICD10:G40.4	obsoletion_candidate|ordo_group_of_disorders	epilepsy syndrome of childhood|childhood epilepsy syndrome|pediatric epilepsy syndrome|pediatric epilepsy syndrome	http://purl.obolibrary.org/obo/MONDO_0020072	A epilepsy syndrome that occurs during childhood.	UMLS:CN206976|ORPHA:98259
MONDO:0019087	cholangiocarcinoma	biolink:Disease	mondo	ICDO:8160/3|NCIT:C4436|GARD:0009304|SCTID:312104005|MESH:D018281|ICD10:C22.1|ONCOTREE:CHOL|ICD10:C24.9|UMLS:C0206698|MedDRA:10004593|ICD10:C24.8|EFO:0005221|MedDRA:10008593|DOID:4947|Orphanet:70567|ICD10:C24.0	ordo_disease	Cholangiocar.- intra/extrahepatic|cholangiosarcoma|cholangiocarcinoma, malignant|Cholangiocellular carcinoma|cholangiocarcinoma, intrahepatic and extrahepatic bile ducts (adenocarcinoma)|CC|intrahepatic bile duct cancer (cholangiocarcinoma)|adult primary cholangiocarcinoma|adult primary cholangiocellular carcinoma|cholangiocarcinoma|bile duct cancer|CC|CCA	http://purl.obolibrary.org/obo/MONDO_0019087	A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor.	MESH:D001650|UMLS:C0206698|MEDDRA:10004593|DOID:4947|MESH:D018281|ORPHA:70567|NCIT:C4436|SNOMEDCT:312104005|MEDDRA:10008593
MONDO:0020071	infantile epilepsy syndrome	biolink:Disease	mondo	UMLS:CN206975|Orphanet:98258|ICD10:G40.4	obsoletion_candidate|ordo_group_of_disorders	infantile onset epilepsy syndrome|epilepsy syndrome of infancy	http://purl.obolibrary.org/obo/MONDO_0020071	A epilepsy syndrome that occurs between 28 days to one year of life..	UMLS:CN206975|ORPHA:98258
MONDO:0019086	carcinoma of esophagus	biolink:Disease	mondo	NCIT:C3513|SCTID:372138000|Orphanet:70482|UMLS:C0152018|DOID:1107|EFO:0002916|MedDRA:10030155	ordo_group_of_disorders	cancer of esophagus|cancer of the esophagus|carcinoma of oesophagus|carcinoma of the esophagus|esophageal cancer, NOS|esophageal cancer|esophagus carcinoma|esophageal carcinoma|cancer of oesophagus|carcinoma of esophagus	http://purl.obolibrary.org/obo/MONDO_0019086	Esophageal carcinoma (EC) is a tumor arising in the epithelial cells lining the esophagus and can be divided into two subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC).	DOID:1107|ORPHA:70482|MEDDRA:10030155|UMLS:C0152018|NCIT:C3513|SNOMEDCT:372138000
MONDO:0020070	neonatal epilepsy syndrome	biolink:Disease	mondo	ICD10:G40.4|UMLS:CN206974|Orphanet:98257	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020070		UMLS:CN206974|ORPHA:98257
MONDO:0019081	obsolete alopecia universalis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019081		
MONDO:0019080	alopecia totalis	biolink:Disease	mondo	UMLS:C0263504|Orphanet:700|SCTID:19754005|MedDRA:10001766|GARD:0000613|ICD10:L63.0|ICD9:704.09	ordo_disease	alopecia totalis|total alopecia areata	http://purl.obolibrary.org/obo/MONDO_0019080	Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous.	ORPHA:700|UMLS:C0263504|MEDDRA:10001766|SNOMEDCT:19754005
MONDO:0019083	Leigh syndrome with cardiomyopathy	biolink:Disease	mondo	ICD10:G31.8|Orphanet:70474|UMLS:CN205578	ordo_disease	cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency|Leigh disease with myopathy|cardiomyopathy with myopathy due to COX deficiency	http://purl.obolibrary.org/obo/MONDO_0019083		ORPHA:70474|UMLS:CN205578
MONDO:0019082	bullous pemphigoid	biolink:Disease	mondo	Orphanet:703|ICD10:L12.0|NCIT:C84389|DOID:8506|GARD:0005972|COHD:4298692|MESH:D010391|ICD9:694.5|SCTID:77090002|EFO:0007187|ICD10:L12|UMLS:C0030805|ICD10:L12.9	ordo_disease	Old Age pemphigus|benign pemphigus|pemphigoid|Parapemphigus|Senile dermatitis herpetiformis|bullous pemphigoid	http://purl.obolibrary.org/obo/MONDO_0019082	Bullous pemphigoid (BP) is the most common form of autoimmune bullous dermatosis.	UMLS:C0030805|ORPHA:703|SNOMEDCT:77090002|MESH:D010391|NCIT:C84389|DOID:8506
MONDO:0020079	obsolete plasma cell tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0020079		
MONDO:0020078	acute myeloid leukemia with recurrent genetic anomaly	biolink:Disease	mondo	NCIT:C7175|Orphanet:98277|ONCOTREE:AMLRGA|GARD:0012758	gard_rare|ordo_group_of_disorders	AML with recurrent Genetic abnormalities|AML with recurrent genetic anomaly|acute myeloid Leukemia with recurrent Genetic abnormalities|acute myeloid Leukemia with balanced Translocations/Inversions	http://purl.obolibrary.org/obo/MONDO_0020078	A group of acute myeloid leukemias characterized by recurrent genetic abnormalities, mainly balanced translocations. (WHO, 2001)	NCIT:C7175|UMLS:C1275661|ORPHA:98277
MONDO:0020077	myelodysplastic/myeloproliferative disease	biolink:Disease	mondo	MESH:D054437|Orphanet:98275|GARD:0009351	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020077	Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE disorderS.	ORPHA:98275|MESH:D054437|UMLS:C1301355
MONDO:0020076	myeloproliferative neoplasm	biolink:Disease	mondo	ICDO:9960/3|GARD:0009319|EFO:0004251|SCTID:425333006|Orphanet:98274|EFO:0002428|ONCOTREE:MPN|UMLS:C1292778|ICD10:D47.1|DOID:2226|NCIT:C4345|ICD9:238.79|MedDRA:10028576|ICDO:9975/1	ordo_group_of_disorders	MPD|chronic myeloproliferative disorder|myeloproliferative tumor|myeloproliferative disorder|chronic myeloproliferative neoplasm|CMPD|chronic myeloproliferative disorders|CMPD, U|MPN|chronic myeloproliferative disease|myeloproliferative neoplasm|myeloproliferative neoplasm, chronic|myeloproliferative neoplasms	http://purl.obolibrary.org/obo/MONDO_0020076	A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008)	DOID:2226|MEDDRA:10028576|UMLS:C1292778|NCIT:C4345|SNOMEDCT:425333006|UMLS:C0027022|MESH:D009196|NCIT:C103126|ORPHA:98274
MONDO:0020075	genetic non-syndromic obesity	biolink:Disease	mondo	Orphanet:98267	ordo_group_of_disorders	genetic isolated obesity|genetic non-syndromic obesity|monogenic obesity due to a leptin-melanocortin pathway anomaly|monogenic isolated obesity	http://purl.obolibrary.org/obo/MONDO_0020075		ORPHA:98267
HGNC:30391	IFT172	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30391		
RO:0002598	capable of positively regulating	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002598	Holds between c and p if and only if c is capable of some activity a, and a positively regulates p.	
HP:0004921	Abnormal magnesium concentration	biolink:PhenotypicFeature	mondo	UMLS:C4020826|UMLS:C4025274		Abnormal Mg concentration|Abnormality of magnesium homeostasis|Abnormal magnesium metabolism	http://purl.obolibrary.org/obo/HP_0004921	An abnormality of magnesium ion homeostasis.	
MONDO:0019089	obsolete adult acute respiratory distress syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019089		
MONDO:0019088	post-transplant lymphoproliferative disease	biolink:Disease	mondo	ICDO:9971/1|UMLS:C0432487|ICD10:D47.9|SCTID:254290004|NCIT:C4727|MedDRA:10051358|GARD:0009553|Orphanet:70568	ordo_disease|gard_rare	PTLD|post-transplant lymphoproliferative disorder	http://purl.obolibrary.org/obo/MONDO_0019088	Post-transplant lymphoproliferative disorder (PTLD) is a polyclonal (benign) or clonal (malignant) proliferation of lymphoid cells that develops as a consequence of immunosuppression in a recipient of a solid organ or bone marrow allograft. PTLDs comprise a spectrum ranging from early, Epstein-Barr virus (EBV)-driven polyclonal lymphoid proliferations to EBV-positive or EBV- negative lymphomas of predominantly B-cell or less often T-cell type. (WHO, 2001)	SNOMEDCT:254290004|MEDDRA:10051358|UMLS:C0432487|ORPHA:70568|NCIT:C4727
MONDO:0020063	malformation syndrome with hamartosis	biolink:Disease	mondo	Orphanet:98196|UMLS:CN206967	ordo_group_of_disorders	Dysmorphologic diseases with phakomatosis	http://purl.obolibrary.org/obo/MONDO_0020063		UMLS:CN206967|ORPHA:98196
MONDO:0019074	bilateral acute depigmentation of the iris	biolink:Disease	mondo	Orphanet:69736|SCTID:720460007	ordo_disease	BADI	http://purl.obolibrary.org/obo/MONDO_0019074	Bilateral acute depigmentation of the iris (BADI) is characterized by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure.	ORPHA:69736|SNOMEDCT:720460007
MONDO:0019073	hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	biolink:Disease	mondo	MESH:C536825|DOID:0111360|OMIM:137940|UMLS:CN205563|GARD:0002492		glomerulonephritis with sparse hair and telangiectases|hypotrichosis-lymphedema-telangiectasia-renal defect syndrome|telangiectatic membranoproliferative glomerulonephritis|HLTRS|hypotrichosis-lymphedema-telangiectasia-renal defect syndrome; HLTRS|hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome	http://purl.obolibrary.org/obo/MONDO_0019073		http://identifiers.org/omim/137940|DOID:0111360|MESH:C536825|UMLS:CN205563
MONDO:0020062	chromosome X structural anomaly	biolink:Disease	mondo	Orphanet:98159|ICD10:Q99.8	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020062		ORPHA:98159
MONDO:0020061	chromosome Y structural anomaly	biolink:Disease	mondo	ICD10:Q98.6|Orphanet:98158	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020061		ORPHA:98158
MONDO:0019076	circumscribed palmoplantar hypokeratosis	biolink:Disease	mondo	Orphanet:69744	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019076	Circumscribed palmoplantar hypokeratosis is an ectodermal dysplasia characterised by circular, well-circumscribed patches of erythematous depressed skin.	ORPHA:69744
MONDO:0020060	gonosome structural anomaly	biolink:Disease	mondo	Orphanet:98157	ordo_group_of_disorders	Sex-chromosome structural anomaly	http://purl.obolibrary.org/obo/MONDO_0020060		ORPHA:98157
MONDO:0019075	Bosley-Salih-Alorainy syndrome	biolink:Disease	mondo	Orphanet:69737|ICD10:Q87.8	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0019075	Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation.	ORPHA:69737
MONDO:0019070	obsolete liposarcoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019070		
MONDO:0019072	intrahepatic cholestasis	biolink:Disease	mondo	DOID:1852|SCTID:235888006|UMLS:C0008372|ICD10:O26.6|Orphanet:69665|GARD:9804|EFO:0009048|MESH:D002780|DOID:0070227|GARD:0009804	ordo_disease	familial recurrent intrahepatic cholestasis of pregnancy|Gravidic intrahepatic cholestasis|recurrent intrahepatic cholestasis of pregnancy|pregnancy-related cholestasis|RICP|intrahepatic cholestasis of pregnancy|familial intrahepatic cholestasis of pregnancy|ICP|pregnancy related cholestasis|cholestasis, intrahepatic of pregnancy|gravidic intrahepatic cholestasis	http://purl.obolibrary.org/obo/MONDO_0019072	Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery.	MESH:D002780|ORPHA:69665|UMLS:C0008372|MESH:C535932|SNOMEDCT:235888006|NCIT:C84400|DOID:1852|DOID:0070227
MONDO:0019071	pure hair and nail ectodermal dysplasia	biolink:Disease	mondo	Orphanet:69084|DOID:0111655	ordo_malformation_syndrome	hair-nail ectodermal dysplasia|HNED|PHNED	http://purl.obolibrary.org/obo/MONDO_0019071	Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant.	DOID:0111655|ORPHA:69084
NCBITaxon:693660	unclassified Primate lentivirus group	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_693660		
RO:0002595	causal relation between material entity and a process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002595	A relationship that holds between a material entity and a process in which causality is involved, with either the material entity or some part of the material entity exerting some influence over the process, or the process influencing some aspect of the material entity.	
MONDO:0020069	chronic encephalitis	biolink:Disease	mondo	Orphanet:98255|UMLS:C0006109	ordo_group_of_disorders	encephalitis, chronic	http://purl.obolibrary.org/obo/MONDO_0020069	Chronic form of encephalitis.	UMLS:C0006109|ORPHA:98255
GO:0005594	collagen type IX trimer	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0005594	A collagen heterotrimer containing type IX alpha chains in alpha1(IX)alpha2(IX)alpha3(IX) trimers; type IX collagen triple helices associate to form a structure that links glycosaminoglycans to type II collagen fibrils.	
RO:0002596	capable of regulating	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002596	Holds between c and p if and only if c is capable of some activity a, and a regulates p.	
MONDO:0020068	postinfectious encephalitis	biolink:Disease	mondo	UMLS:C0393459|SCTID:192727001|ICD9:323.6|Orphanet:98253|MedDRA:10057235	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020068		SNOMEDCT:192727001|MEDDRA:10057235|UMLS:C0393459|ORPHA:98253
RO:0002597	capable of negatively regulating	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002597	Holds between c and p if and only if c is capable of some activity a, and a negatively regulates p.	
MONDO:0007089	Alzheimer disease 2	biolink:Disease	mondo	ICD10:G30|UMLS:C1863051|OMIM:104310|MESH:C536595|DOID:0110035|GARD:0009467		Alzheimer's disease type 2|Alzheimer disease type 2|Alzheimer disease 2, late-onset|Alzheimer disease associated with APOE E4|Alzheimer disease-2|late onset Alzheimer disease|Alzheimer disease associated with Apoe4|late onset familial Alzheimer disease|AD2|Alzheimer disease 2, late onset|Alzheimer disease associated with APOE4|LOFAD|Alzheimer disease 2|Alzheimer's disease 2|Alzheimer disease 2; AD2	http://purl.obolibrary.org/obo/MONDO_0007089	An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele.	MESH:C536595|DOID:0110035|http://identifiers.org/omim/104310|UMLS:C1863051
MONDO:0020067	infectious encephalitis	biolink:Disease	mondo	NCIT:C79550|ICD9:049.8|ICD9:323.4|MESH:D000069544|SCTID:312215006	ordo_group_of_disorders	encephalitis infection	http://purl.obolibrary.org/obo/MONDO_0020067	An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi.	SNOMEDCT:312215006|NCIT:C79550|MESH:D000069544
GO:0005592	collagen type XI trimer	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0005592	A collagen heterotrimer containing type XI alpha chains in alpha1(XI)alpha2(XI)alpha3(XI) trimers; type XI collagen triple helices associate to form fibrils.	
MONDO:0020066	Ehlers-Danlos syndrome	biolink:Disease	mondo	Orphanet:98249|SCTID:398114001|UMLS:C0013720|DOID:13359|GARD:0006322|ICD10:Q79.6|COHD:79145|NCIT:C34568|MedDRA:10014316|MESH:D004535|ICD9:756.83|OMIMPS:130000	gard_rare|ordo_group_of_disorders	Ehler Danlos Syndrome|Ehlers-Danlos syndromes|elastic skin|danlos ehlers syndrome|Disease, Ehlers Danlos|skin elastic|Disease, Ehlers-Danlos|Danlos disease|Meekeren-Ehlers-Danlos syndrome|Ehlers Danlos Disease|Dystrophia mesodermalis congenita|Ehlers Danlos syndrome|Fibrodysplasia elastica generalisata|ED syndrome|Ehlers-Danlos Disease|Syndrome, Ehlers-Danlos|Danlos Disease, Ehlers|Hereditary collagen dysplasia|EDS	http://purl.obolibrary.org/obo/MONDO_0020066	The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility.	DOID:13359|MEDDRA:10014316|MESH:D004535|SNOMEDCT:398114001|ORPHA:98249|NCIT:C34568|UMLS:C0013720
GO:0005593	FACIT collagen trimer	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0005593	A collagen trimer that associates with collagen fibrils and consists of collagen monomers that contain two or more relatively short triple-helical domains connected by non-triple-helical sequences.	
MONDO:0007087	alternating hemiplegia of childhood 1	biolink:Disease	mondo	UMLS:C3549447|OMIM:104290		alternating hemiplegia of childhood 1; AHC1|AHC1|alternating hemiplegia of childhood type 1|alternating hemiplegia of childhood 1|ATP1A2 alternating hemiplegia of childhood|alternating hemiplegia of childhood caused by mutation in ATP1A2	http://purl.obolibrary.org/obo/MONDO_0007087	Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A2 gene.	http://identifiers.org/omim/104290|UMLS:C3549447
MONDO:0020065	combined dystonia	biolink:Disease	mondo	Orphanet:98203|UMLS:CN206969|ICD10:G24.1	ordo_group_of_disorders	dystonia-plus syndrome	http://purl.obolibrary.org/obo/MONDO_0020065	A dystonia that is combined with another movement disorder (e.g., myoclonus, parkinsonism).	UMLS:CN206969|ORPHA:98203
MONDO:0007088	Alzheimer disease type 1	biolink:Disease	mondo	GARD:0009465|DOID:0080348|UMLS:C2931257|OMIM:104300	gard_rare	Alzheimer disease, early-onset, with cerebral amyloid angiopathy|AD1|Alzheimer disease, protection against|early-onset familial form of Alzheimer disease|Alzheimer disease 1|presenile and senile dementia|Alzheimer disease; AD|Alzheimer disease, familial, 1	http://purl.obolibrary.org/obo/MONDO_0007088		DOID:0080348|http://identifiers.org/omim/104300|UMLS:C2931257
MONDO:0020064	pulmonary valve agenesis	biolink:Disease	mondo	GARD:0004597|Orphanet:982|ICD10:Q22.2|SCTID:6996004	ordo_group_of_disorders|gard_rare	congenital absence of the pulmonary valve|absent pulmonary valve syndrome|PVA|pulmonary valves agenesis	http://purl.obolibrary.org/obo/MONDO_0020064	Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.3424	ORPHA:982|SNOMEDCT:6996004
MONDO:0007085	alopecia-epilepsy-pyorrhea-intellectual disability syndrome	biolink:Disease	mondo	GARD:0000607|Orphanet:1008|UMLS:C1863090|OMIM:104130|MESH:C537057|SCTID:720980004|ICD10:Q87.8	ordo_disease	alopecia, epilepsy, pyorrhea, mental subnormality|congenital universal alopecia, epilepsy, mental subnormality and pyorrhea|alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality|Shokeir syndrome	http://purl.obolibrary.org/obo/MONDO_0007085	Alopecia-epilepsy-pyorrhea-intellectual disability syndrome is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.	MESH:C537057|ORPHA:1008|SNOMEDCT:720980004|http://identifiers.org/omim/104130|UMLS:C1863090
MONDO:0007086	autosomal dominant Alport syndrome	biolink:Disease	mondo	SCTID:717766000|ICD10:Q87.8|DOID:0110032|GARD:0000624|Orphanet:88918|OMIM:104200	ordo_etiological_subtype|gard_rare	Alport syndrome dominant type|Alport syndrome, autosomal dominant|renal failure and sensorineural hearing loss	http://purl.obolibrary.org/obo/MONDO_0007086	Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell.	ORPHA:88918|UMLS:C1567743|DOID:0110032|MESH:C536586|SNOMEDCT:717766000|http://identifiers.org/omim/104200|UMLS:C2931253
MONDO:0007083	autosomal dominant palmoplantar keratoderma and congenital alopecia	biolink:Disease	mondo	OMIM:104100|ICD10:Q82.8|GARD:0000604|SCTID:719518004|Orphanet:1010	gard_rare|ordo_disease	palmoplantar keratoderma and congenital alopecia, Stevanovic type|keratoderma-hypotrichosis-leukonychia totalis syndrome|alopecia congenita with hyperkeratosis of the palms and soles|PPKCA1|palmoplantar keratoderma and congenital alopecia 1; PPKCA1|palmoplantar keratoderma and congenital alopecia 1|palmoplantar keratoderma and congenital alopecia type 1|PPK-CA, Stevanovic type|autosomal dominant palmoplantar hyperkeratosis and congenital alopecia|Ppkca, Stevanovic type	http://purl.obolibrary.org/obo/MONDO_0007083	Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.	ORPHA:1010|SNOMEDCT:719518004|http://identifiers.org/omim/104100
MONDO:0007084	familial focal alopecia	biolink:Disease	mondo	MESH:C566301|UMLS:C1863092|OMIM:104110		alopecia, familial focal|alopecia, familial focal; ALPF|ALPF	http://purl.obolibrary.org/obo/MONDO_0007084		MESH:C566301|http://identifiers.org/omim/104110|UMLS:C1863092
MONDO:0007081	obsolete allergic bronchopulmonary aspergillosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0007081		
MONDO:0007082	alopecia areata 1	biolink:Disease	mondo	UMLS:C1863094|OMIM:104000		alopecia areata 1|alopecia universalis|alopecia areata 1; AA1|AA1	http://purl.obolibrary.org/obo/MONDO_0007082		http://identifiers.org/omim/104000|UMLS:C1863094
MONDO:0007080	glucocorticoid-remediable aldosteronism	biolink:Disease	mondo	Orphanet:403|MESH:C563177|ICD10:E26.0|UMLS:C3838731|DOID:14080|GARD:0002790|OMIM:103900|ICD9:255.11|ICD10:E26.02|UMLS:C1260386	gard_rare|ordo_disease	HALD1|glucocorticoid-remediable aldosteronism|dexamethasone sensitive hypertension|glucocorticoid-remediable aldosteronism; GRA|FH1|hyperaldosteronism, familial, type I; HALD1|dexamethasone-sensitive hypertension|FH-I|GRA|glucocorticoid sensitive hypertension|aldosteronism, sensitive to dexamethasone|familial hyperaldosteronism type I|hyperaldosteronism, familial, type 1|glucocorticoid-suppressible hyperaldosteronism|glucocorticoid-sensitive hypertension|ACTH-dependent hyperaldosteronism syndrome|familial hyperaldosteronism type 1|FH 1|hyperaldosteronism, familial type 1	http://purl.obolibrary.org/obo/MONDO_0007080	Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol.	DOID:14080|ORPHA:403|MESH:C563177|UMLS:C3838731|NCIT:C123248|http://identifiers.org/omim/103900|UMLS:C1260386
MONDO:0019078	Ritscher-Schinzel syndrome	biolink:Disease	mondo	UMLS:C0796137|OMIMPS:220210|MESH:C535313|Orphanet:7|ICD10:Q87.8|DOID:0060565|SCTID:718556007|GARD:0005666	gard_rare|ordo_malformation_syndrome	CCC dysplasia|Ritscher-Schinzel syndrome|Dandy-Walker-like malformation with ASD|3C syndrome|Dandy-Walker-like malformation with atrioventricular septal defect|Dandy-Walker like malformation with atrioventricular septal defect|Ritscher Schinzel syndrome|Ritscher-Schinzel cranio-cerebello-cardiac syndrome|Craniocerebellocardiac dysplasia|cranio-cerebello-cardiac dysplasia|craniocerebellocardiac dysplasia	http://purl.obolibrary.org/obo/MONDO_0019078	Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.	ORPHA:7|MESH:C535313|SNOMEDCT:718556007|DOID:0060565|UMLS:C0796137
MONDO:0019077	warty dyskeratoma	biolink:Disease	mondo	SCTID:254676008|NCIT:C4087|Orphanet:69745|MedDRA:10068856|UMLS:C0334063	ordo_disease	follicular dyskeratoma|isolated follicular keratosis	http://purl.obolibrary.org/obo/MONDO_0019077	A rare, usually solitary, benign epithelial tumor of the skin that appears to arise from a hair follicle. It usually develops in the head and neck region as a nodular lesion with a central keratotic plug.	ORPHA:69745|SNOMEDCT:254676008|NCIT:C4087|UMLS:C0334063|MEDDRA:10068856
MONDO:0019079	proximal spinal muscular atrophy	biolink:Disease	mondo	EFO:0008929|Orphanet:70|ICD10:G12.0|UMLS:C4024957|GARD:0004531|UMLS:CN205570|ICD10:G12.1	gard_rare|ordo_disease	SMA	http://purl.obolibrary.org/obo/MONDO_0019079	Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.	UMLS:CN205570|ORPHA:70|UMLS:C4024957
MONDO:0019063	vascular anomaly	biolink:Disease	mondo	Orphanet:68419	ordo_group_of_disorders	vascular anomaly or angioma	http://purl.obolibrary.org/obo/MONDO_0019063		ORPHA:68419
MONDO:0020052	partial autosomal trisomy/tetrasomy	biolink:Disease	mondo	Orphanet:98132	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020052		ORPHA:98132
MONDO:0019062	obsolete rare infectious disease	biolink:Disease	mondo	Orphanet:68416|UMLS:CN205543	ordo_group_of_disorders|obsoletion_candidate	rare infectious disease	http://purl.obolibrary.org/obo/MONDO_0019062	Rare infectious disease.	ORPHA:68416|UMLS:CN205543
MONDO:0020051	total autosomal trisomy	biolink:Disease	mondo	Orphanet:98131	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020051		ORPHA:98131
MONDO:0020050	autosomal trisomy	biolink:Disease	mondo	SCTID:429442006|UMLS:C1996945|Orphanet:98130|NCIT:C3421|GARD:0006065|ICD9:758.5	ordo_group_of_disorders	chromosomal triplication|trisomy|autosomal duplication	http://purl.obolibrary.org/obo/MONDO_0020050	A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number.	SNOMEDCT:429442006|NCIT:C3421|UMLS:C1996945|ORPHA:98130
MONDO:0019065	amyloidosis (disease)	biolink:Disease	mondo	NCIT:C2868|EFO:1001875|DOID:9120|MESH:D000686|ICD9:277.30|MedDRA:10002022|Orphanet:69|SCTID:17602002|ICD10:E85.8|ONCOTREE:MIDDA|ICD10:E85.9|ICD10:E85.4|COHD:432595|ICD10:E85.3|ICD9:277.3|ICD10:E85|ICD10:E85.2|HP:0011034|ICD10:E85.1|UMLS:C0002726|ICD10:E85.0	ordo_group_of_disorders	amyloidoses|amyloidosis|amyloidosis (disease)|amyloid disease|amyloid	http://purl.obolibrary.org/obo/MONDO_0019065	A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands.	UMLS:C0002726|SNOMEDCT:17602002|NCIT:C2868|MESH:D000686|MEDDRA:10002022|DOID:9120|ORPHA:69
MONDO:0019064	hereditary spastic paraplegia	biolink:Disease	mondo	MedDRA:10019903|GARD:0006637|DOID:2476|ICD9:334.1|COHD:192901|SCTID:39912006|OMIMPS:303350|Orphanet:685|MESH:D015419|NCIT:C140267|ICD10:G11.4	gard_rare|ordo_group_of_disorders	SPG|spastic paraplegia|hereditary spastic paraparesis|familial spastic paraparesis|FSP|HSP|Strumpell-Lorrain disease|Strümpell-Lorrain disease|familial spastic paraplegia|French settlement disease	http://purl.obolibrary.org/obo/MONDO_0019064	Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs.	MESH:D015419|MEDDRA:10019903|SNOMEDCT:39912006|ORPHA:685|UMLS:C0037773|DOID:2476|NCIT:C140267
GO:0030545	receptor regulator activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0030545	The function of interacting (directly or indirectly) with receptors such that the proportion of receptors in the active form is changed.	
GO:0030546	signaling receptor activator activity	biolink:OntologyClass	mondo			signalling receptor activator activity|receptor activator activity	http://purl.obolibrary.org/obo/GO_0030546	The function of interacting (directly or indirectly) with receptors such that the proportion of receptors in the active form is increased.	
MONDO:0019061	rare parathyroid disease and phosphocalcic metabolism anomaly	biolink:Disease	mondo	Orphanet:68415|UMLS:CN205542	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0019061		ORPHA:68415|UMLS:CN205542
MONDO:0019060	bone neoplasm	biolink:Disease	mondo	GARD:0013223|ONCOTREE:BONE|NCIT:C9343|Orphanet:68411	ordo_group_of_disorders	neoplasm of bone|bone tumor|neoplasm of the bone|bone neoplasm|neoplasm of bone tissue|bone tissue tumor|rare bone tumor|bone neoplasms|osseous neoplasm|bone tumors|primary malignant neoplasm of bone|tumor of bone|tumor of bone tissue|tumor of the bone|primary bone cancer|bone tissue neoplasm|osseous tumor	http://purl.obolibrary.org/obo/MONDO_0019060	A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage.	NCIT:C9343|ORPHA:68411
HP:0004905	Low levels of vitamin A	biolink:PhenotypicFeature	mondo	UMLS:C0042842|SNOMEDCT_US:72000004|MSH:D014802		Vitamin A deficiency	http://purl.obolibrary.org/obo/HP_0004905	A reduced concentration of vitamin A.	
MONDO:0020059	gonosome number anomaly	biolink:Disease	mondo	Orphanet:98156	ordo_group_of_disorders	Sex-chromosome number anomaly	http://purl.obolibrary.org/obo/MONDO_0020059		ORPHA:98156
RO:0002584	has part structure that is capable of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002584	s 'has part structure that is capable of' p if and only if there exists some part x such that s 'has part' x and x 'capable of' p	
MONDO:0020058	gonosome anomaly	biolink:Disease	mondo	COHD:441398|Orphanet:98155|SCTID:95462004|ICD9:758.8|ICD9:758.81	ordo_group_of_disorders	Sex-chromosome anomaly	http://purl.obolibrary.org/obo/MONDO_0020058		ORPHA:98155|SNOMEDCT:95462004
MONDO:0020057	uniparental disomy of paternal origin	biolink:Disease	mondo	SCTID:726402006|Orphanet:98154|ICD10:Q99.8	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020057		SNOMEDCT:726402006|ORPHA:98154
MONDO:0044001	hearing loss, mixed conductive-sensorineural	biolink:Disease	mondo	NCIT:C26974|MESH:D046089|SCTID:77507001|UMLS:C0155552|EFO:1001803		hearing loss, mixed conductive sensorineural|Losses, mixed hearing|hearing loss, mixed|loss, mixed hearing|mixed deafness|mixed hearing loss|mixed conductive and sensorineural hearing loss|mixed type deafness|mixed conductive and sensorineural deafness	http://purl.obolibrary.org/obo/MONDO_0044001	Hearing loss characterized by a combination of conductive and sensorineural hearing loss. It is caused by problems in both the inner ear and middle or outer ear.	UMLS:C0155552|MESH:D046089|SNOMEDCT:77507001|NCIT:C26974
MONDO:0020056	uniparental disomy of maternal origin	biolink:Disease	mondo	SCTID:726401004|Orphanet:98153|ICD10:Q99.8	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020056		SNOMEDCT:726401004|ORPHA:98153
PATO:0000117	size	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0000117	A morphology quality inhering in a bearer by virtue of the bearer's physical magnitude.	
MONDO:0020055	autosomal uniparental disomy	biolink:Disease	mondo	ICD10:Q99.8|Orphanet:98152|UMLS:CN229262	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020055		UMLS:CN229262|ORPHA:98152
MONDO:0007098	ACys amyloidosis	biolink:Disease	mondo	OMIM:105150|ICD10:E85.4+|DOID:0070027|ICD9:437.8|ICD10:I68.0*|SCTID:703220002|ICD9:277.39|Orphanet:100008	ordo_clinical_subtype	amyloidosis VI|cystatin amyloidosis|CST3-related amyloidosis|amyloidosis 6|HCHWA|HCHWA, Icelandic type|CST3-related cerebral amyloid angiopathy|cerebral hemorrhage, hereditary, with amyloidosis|amyloidosis, Cerebroarterial, Icelandic type|cerebral amyloid angiopathy, CST3-related|hereditary cystatin C amyloid angiopathy|hereditary cerebral hemorrhage with amyloidosis, Icelandic type|hereditary cerebral hemorrhage with amyloidosis	http://purl.obolibrary.org/obo/MONDO_0007098	Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages.	http://identifiers.org/omim/105150|SNOMEDCT:703220002|DOID:0070027|ORPHA:100008
MONDO:0020054	partial autosomal monosomy	biolink:Disease	mondo	Orphanet:98142|ICD10:Q93.5|ICD10:Q93.4|ICD10:Q93.3	ordo_group_of_disorders	partial autosomal deletion	http://purl.obolibrary.org/obo/MONDO_0020054		ORPHA:98142
MONDO:0007099	familial visceral amyloidosis	biolink:Disease	mondo	Orphanet:85450|DOID:0050636|GARD:0008282|MESH:C538249|ICD10:E85.0|UMLS:C0268389|SCTID:66451004|OMIM:105200|ICD9:277.39	gard_rare|ordo_disease	amyloidosis systemic nonneuropathic|amyloidosis familial renal|amyloidosis, Ostertag type|amyloidosis VIII|familial renal amyloidosis|hereditary amyloidosis with primary renal involement|amyloidosis, systemic Nonneuropathic|hereditary amyloid nephropathy|German type amyloidosis|amyloidosis familial visceral|hereditary renal amyloidosis|amyloidosis, familial renal|amyloidosis 8|amyloidosis, familial visceral|Ostertag type amyloidosis|systemic nonneuropathic amyloidosis|familial amyloid nephropathy	http://purl.obolibrary.org/obo/MONDO_0007099		MESH:C538249|ORPHA:85450|DOID:0050636|SNOMEDCT:66451004|http://identifiers.org/omim/105200|UMLS:C0268389
CHEBI:43176	hydroxy group	biolink:ChemicalSubstance	mondo			hydroxyl|hydroxyl group|-OH|hydroxy|HYDROXY GROUP|hydroxy group	http://purl.obolibrary.org/obo/CHEBI_43176		
MONDO:0020053	total autosomal monosomy	biolink:Disease	mondo	Orphanet:98141|ICD10:Q93.1|ICD10:Q93.0	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020053		ORPHA:98141
MONDO:0007096	amenorrhea-galactorrhea syndrome	biolink:Disease	mondo	OMIM:104600|ICD9:253.1|MESH:C537072|UMLS:C0271556|SCTID:64678009		amenorrhea-galactorrhea syndrome	http://purl.obolibrary.org/obo/MONDO_0007096		UMLS:C0271556|MESH:C537072|http://identifiers.org/omim/104600|SNOMEDCT:64678009
MONDO:0007097	Finnish type amyloidosis	biolink:Disease	mondo	SCTID:419398009|Orphanet:85448|MESH:C537459|GARD:0002339|ICD9:277.39|OMIM:105120|DOID:0050637|ICD10:E85.1	ordo_disease	amyloidosis V|meretoja type amyloidosis|lattice corneal dystrophy type II Finnish|cerebral amyloid angiopathy, Gsn-related|hereditary amyloidosis, Finnish type|amyloidosis, Meretoja type|corneal dystrophy, lattice type 2|hereditary gelsolin amyloidosis|AGel amyloidosis|amyloidosis 5|gelsolin amyloidosis|amyloid cranial neuropathy with lattice corneal dystrophy|familial amyloid polyneuropathy type IV|amyloidosis, Finnish type|lattice corneal dystrophy, type 2|amyloidosis, MERETOJA type|amyloidosis due to mutant gelsolin|familial amyloidosis, Finnish type|meretoja syndrome	http://purl.obolibrary.org/obo/MONDO_0007097		SNOMEDCT:419398009|MESH:C537459|ORPHA:85448|DOID:0050637|http://identifiers.org/omim/105120
HGNC:30372	KLHL40	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30372		
MONDO:0007094	amelogenesis imperfecta type 1A	biolink:Disease	mondo	ICD10:K00.5|DOID:0110054|MESH:C538240|OMIM:104530|GARD:0000645	gard_rare	amelogenesis imperfecta hypoplastic type IA|amelogenesis imperfecta type IA|LAMB3 amelogenesis imperfecta|amelogenesis imperfecta, type IA|amelogenesis imperfecta, type 1A|amelogenesis imperfecta, hypoplastic type 1A|amelogenesis imperfecta caused by mutation in LAMB3|amelogenesis imperfecta local hypoplastic|local hypoplastic amelogenesis imperfecta|AI1A|amelogenesis imperfecta, type IA; AI1A	http://purl.obolibrary.org/obo/MONDO_0007094	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the LAMB3 gene.	DOID:0110054|http://identifiers.org/omim/104530|MESH:C538240
MONDO:0007095	ameloonychohypohidrotic syndrome	biolink:Disease	mondo	SCTID:715404000|Orphanet:1028|OMIM:104570|ICD10:Q82.4|UMLS:C1863006|MESH:C538245|GARD:0000647	gard_rare|ordo_malformation_syndrome	amelo-onycho-hypohidrotic syndrome|hypocalcified-hypoplastic enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis|ameloonychohypohidrotic syndrome	http://purl.obolibrary.org/obo/MONDO_0007095		http://identifiers.org/omim/104570|SNOMEDCT:715404000|UMLS:C1863006|MESH:C538245|ORPHA:1028
MONDO:0007092	amelogenesis imperfecta type 1B	biolink:Disease	mondo	OMIM:104500|ICD10:K00.5|ICD9:520.5|MESH:C562879|UMLS:C0399368|SCTID:234961008|DOID:0110052		enam amelogenesis imperfecta|amelogenesis imperfecta caused by mutation in ENAM|amelogenesis imperfecta caused by mutation in enam|amelogenesis imperfecta, type IB|amelogenesis imperfecta, type 1B|amelogenesis imperfecta, hypoplastic local, autosomal dominant|hereditary localized enamel hypoplasia|enamel hypoplasia, hereditary localized|AI1B|amelogenesis imperfecta type IB|autosomal dominant hypoplastic local amelogenesis imperfecta|AIH2|amelogenesis imperfecta, type IB; AI1B|ENAM amelogenesis imperfecta	http://purl.obolibrary.org/obo/MONDO_0007092	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ENAM gene.	SNOMEDCT:234961008|DOID:0110052|http://identifiers.org/omim/104500|MESH:C562879|UMLS:C0399368
RO:0002576	skeleton of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002576	inverse of has skeleton	
MONDO:0007093	hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	biolink:Disease	mondo	UMLS:C1863012|OMIM:104510|ICD10:K00.5|MESH:C566293|Orphanet:100034|DOID:0110053	ordo_clinical_subtype	amelogenesis imperfecta type 4|AIHHT|amelogenesis imperfecta caused by mutation in DLX3|DLX3 amelogenesis imperfecta|amelogenesis imperfecta, type IV; AI4|amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism|amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism|AI4|amelogenesis imperfecta, type 4|amelogenesis imperfecta, type IV	http://purl.obolibrary.org/obo/MONDO_0007093	Any amelogenesis imperfecta in which the cause of the disease is a mutation in the DLX3 gene.	MESH:C566293|DOID:0110053|http://identifiers.org/omim/104510|ORPHA:100034|UMLS:C1863012|UMLS:C0399373
RO:0002577	system	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002577	A material entity consisting of multiple components that are causally integrated.	
RO:0002578	directly regulates	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002578	Process(P1) directly regulates process(P2) iff: P1 regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2).  For example, if protein A has protein binding activity(P1) that targets protein B and this binding  regulates the kinase activity (P2) of protein B then P1 directly regulates P2.	
MONDO:0007090	amastia, bilateral, with ureteral triplication and dysmorphism	biolink:Disease	mondo	UMLS:C1863015|OMIM:104350|MESH:C566295		amastia, bilateral, with ureteral triplication and dysmorphism	http://purl.obolibrary.org/obo/MONDO_0007090		http://identifiers.org/omim/104350|UMLS:C1863015|MESH:C566295
MONDO:0007091	amelia and terminal transverse hemimelia	biolink:Disease	mondo	OMIM:104400|MESH:C566294|UMLS:C1863014		amelia and terminal transverse hemimelia	http://purl.obolibrary.org/obo/MONDO_0007091		http://identifiers.org/omim/104400|UMLS:C1863014|MESH:C566294
MONDO:0019067	idiopathic steroid-sensitive nephrotic syndrome	biolink:Disease	mondo	ICD10:N04.0|Orphanet:69061	ordo_clinical_syndrome		http://purl.obolibrary.org/obo/MONDO_0019067	Steroid-sensitive nephrotic syndrome (SSNS) is a kidney disease defined by selective proteinuria, hypoalbuminaemia and, on renal biopsy, minimal changes without immunoglobulin deposits.	ORPHA:69061
MONDO:0019066	syndrome with brachydactyly	biolink:Disease	mondo	UMLS:CN205546|ICD10:Q73.8|Orphanet:69028	ordo_group_of_disorders	dysostosis with brachydactyly	http://purl.obolibrary.org/obo/MONDO_0019066	Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis.	ORPHA:69028|UMLS:CN205546
MONDO:0019069	obsolete rhabdoid tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019069		
MONDO:0019068	congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization	biolink:Disease	mondo	SCTID:725592009|ICD10:P96.0|Orphanet:69063|UMLS:C4511239	ordo_disease	neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency|alloimmune neonatal renal disease|neonatal membranous glomerulopathy with maternal NEP deficiency|neonatal glomerulopathy due to Neprilysin alloimmunization|neonatal glomerulopathy due to neprilysin alloimmunization|fetomaternal alloimmunization with antenatal glomerulopathies|FMAIG	http://purl.obolibrary.org/obo/MONDO_0019068	Congenital membranous nephropathy due to maternal anti-neutral endopeptidase (NEP) alloimmunization (CMNEPA) is a glomerular disease characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improve in the first weeks of life.	ORPHA:69063|SNOMEDCT:725592009|UMLS:C4511239
HGNC:17382	SRGAP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17382		
MONDO:0022620	CD4 deficiency	biolink:Disease	mondo	GARD:0009523	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022620		
MONDO:0009649	MYMY1	biolink:Disease	mondo	ICD9:437.5|SCTID:69116000|OMIM:252350		Moyamoya disease|MYMY1|Moyamoya disease 1|spontaneous occlusion of the circle of Willis|Moyamoya disease 1; MYMY1	http://purl.obolibrary.org/obo/MONDO_0009649		SNOMEDCT:69116000|http://identifiers.org/omim/252350
MONDO:0009648	peripheral motor neuropathy-dysautonomia syndrome	biolink:Disease	mondo	MESH:C536988|Orphanet:2400|UMLS:C1854961|OMIM:252320	ordo_disease	motor neuropathy, peripheral, with dysautonomia|Lisker-Garcia-Ramos syndrome	http://purl.obolibrary.org/obo/MONDO_0009648	Peripheral motor neuropathy-dysautonomia syndrome is characterised by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive.	ORPHA:2400|MESH:C536988|UMLS:C1854961|http://identifiers.org/omim/252320
MONDO:0022622	CDG syndrome type 4	biolink:Disease	mondo	GARD:0001174	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022622		
MONDO:0009647	Morquio syndrome C	biolink:Disease	mondo	OMIM:252300|MESH:C536247		Morquio syndrome C|Morquio syndrome type C|Morquio syndrome, Nonkeratosulfate-Excreting type	http://purl.obolibrary.org/obo/MONDO_0009647		MESH:C536247|http://identifiers.org/omim/252300
MONDO:0022623	CDK4 linked melanoma	biolink:Disease	mondo	GARD:0001175	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022623		
MONDO:0010635	hypogonadotropic hypogonadism 1 with or without anosmia	biolink:Disease	mondo	NCIT:C75480|UMLS:C1563719|OMIM:308700|DOID:0090094|ICD10:E23.0|GARD:0003071	gard_rare	hypogonadotropic hypogonadism 1 with or without anosmia; HH1|hypogonadotropic hypogonadism and anosmia|anosmic hypogonadism|Kallmann syndrome, X-linked|hypogonadotropic hypogonadism 1 with or without anosmia|dysplasia Olfactogenitalis of De Morsier|Kallmann syndrome, type 1, X-linked|KMS|KAL1|ANOS1 hypogonadotropic hypogonadism|HH1|dysplasia olfactogenitalis of de Morsier|hypogonadotropic hypogonadism caused by mutation in ANOS1|Kallmann syndrome 1	http://purl.obolibrary.org/obo/MONDO_0010635	The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3.	NCIT:C75480|DOID:0090094|UMLS:C1563719|http://identifiers.org/omim/308700
MONDO:0009646	Monosomy 7 myelodysplasia and leukemia syndrome 1	biolink:Disease	mondo	OMIM:252270|UMLS:C1854978|MESH:C565370		M7MLS1|myelodysplasia and leukemia syndrome with monosomy 7|monosomy 7 of bone marrow|chromosome 7Q deletion	http://purl.obolibrary.org/obo/MONDO_0009646		MESH:C565370|UMLS:C1854978|http://identifiers.org/omim/252270
RO:0002572	luminal space of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002572	s is luminal space of x iff s is lumen_of x and s is an immaterial entity	
MONDO:0009645	chronic mucocutaneous candidiasis due to monocyte chemotactic disorder	biolink:Disease	mondo	UMLS:C1854982|OMIM:252250|MESH:C565371		monocyte chemotactic disorder	http://purl.obolibrary.org/obo/MONDO_0009645		MESH:C565371|UMLS:C1854982|http://identifiers.org/omim/252250
MONDO:0010634	jaundice, familial obstructive, of infancy	biolink:Disease	mondo	OMIM:308600|UMLS:C1839927|MESH:C564118		jaundice, familial obstructive, of infancy	http://purl.obolibrary.org/obo/MONDO_0010634		UMLS:C1839927|MESH:C564118|http://identifiers.org/omim/308600
RO:0002573	has modifier	biolink:OntologyClass	mondo	RO:0002573			http://purl.obolibrary.org/obo/RO_0002573	A relation that holds between an attribute or a qualifier and another attribute.	
MONDO:0010637	keratosis follicularis spinulosa decalvans, X-linked	biolink:Disease	mondo	OMIM:308800|MESH:C536159|UMLS:C3887525		keratosis follicularis SPINULOSA decalvans, X-linked; KFSDX|keratosis follicularis spinulosa decalvans cum ophiasi|keratosis follicularis spinulosa decalvans|keratosis follicularis spinulosa decalvans, X-linked|Kfsdx|keratosis follicularis Spinulosa decalvans cum Ophiasi|KFSDX	http://purl.obolibrary.org/obo/MONDO_0010637		UMLS:C3887525|MESH:C536159|http://identifiers.org/omim/308800
MONDO:0009644	sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	biolink:Disease	mondo	ICD10:E72.1|DOID:0111163|PMID:10053004|UMLS:C1854989|MESH:C565373|OMIM:252160|Orphanet:308393	ordo_etiological_subtype	MOCOD type B|MOCODB|molybdenum cofactor deficiency, complementation group type B|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B|molybdenum cofactor deficiency type B|molybdenum cofactor deficiency, complementation group B|molybdenum cofactor deficiency complementation group B|molybdenum cofactor deficiency, complementation group B; MOCODB	http://purl.obolibrary.org/obo/MONDO_0009644		DOID:0111163|MESH:C565373|UMLS:C1854989|http://identifiers.org/omim/252160|ORPHA:308393
MONDO:0009643	sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	biolink:Disease	mondo	DOID:0111164|ICD10:E72.1|OMIM:252150|PMID:9731530|Orphanet:308386|UMLS:C1854988|MESH:C565372	ordo_etiological_subtype	sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of|molybdenum cofactor deficiency, complementation group A; MOCODA|molybdenum cofactor deficiency, complementation group type a|MOCOD type A|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A|molybdenum cofactor deficiency type A|molybdenum cofactor deficiency, complementation group A|molybdenum cofactor deficiency complementation group A|MOCODA	http://purl.obolibrary.org/obo/MONDO_0009643		DOID:0111164|MESH:C565372|UMLS:C1854988|ORPHA:308386|http://identifiers.org/omim/252150
MONDO:0010636	Kallmann syndrome with spastic paraplegia	biolink:Disease	mondo	MESH:C536873|UMLS:C1839911|OMIM:308750		spastic paraplegia-Kallmann syndrome|Kallmann syndrome with spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0010636		UMLS:C1839911|MESH:C536873|http://identifiers.org/omim/308750
MONDO:0009642	orofaciodigital syndrome type II	biolink:Disease	mondo	Orphanet:2751|GARD:0003701|SCTID:1779005|ICD9:759.89|OMIM:252100|ICD10:Q87.0	ordo_malformation_syndrome	OFD2|oral facial digital syndrome 2|Mohr syndrome|orofaciodigital syndrome 2|oral-facial-digital syndrome type 2|oral-Facial-digital syndrome, type 2|MOHR syndrome|OFD syndrome 2|orofaciodigital syndrome II|Ofds 2|orofaciodigital syndrome type 2|oral facial digital syndrome type 2	http://purl.obolibrary.org/obo/MONDO_0009642	Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.	SNOMEDCT:1779005|MESH:C538585|ORPHA:2751|UMLS:C0026363|http://identifiers.org/omim/252100|UMLS:C2931889
MONDO:0010639	laryngeal abductor paralysis-intellectual disability syndrome	biolink:Disease	mondo	OMIM:308850|Orphanet:2375|UMLS:CN201604|SCTID:724178000|ICD10:J38.0	ordo_malformation_syndrome	vocal cord dysfunction, familial|laryngeal abductor paralysis|Plott syndrome	http://purl.obolibrary.org/obo/MONDO_0010639	Laryngeal abductor paralysis-intellectual disability syndrome is characterised by congenital and permanent laryngeal abductor paralysis, associated, in the majority of cases, with intellectual deficit. It has been described in several families. X-linked inheritance is likely.	UMLS:CN201604|SNOMEDCT:724178000|ORPHA:2375|http://identifiers.org/omim/308850
MONDO:0009641	mitochondrial complex II deficiency	biolink:Disease	mondo	OMIM:252011|ICD10:G71.3|ICD9:277.6|SCTID:124165006|MESH:C565375|Orphanet:3208|GARD:0005053|DOID:0060537	ordo_disease|gard_rare	isolated mitochondrial respiratory chain complex II deficiency|Complex 2 mitochondrial respiratory chain deficiency|isolated succinate-coenzyme Q reductase deficiency|mitochondrial respiratory chain complex II deficiency|mitochondrial Complex 2 deficiency|succinate CoQ reductase deficiency|succinate dehydrogenase deficiency|mitochondrial complex II deficiency|isolated succinate-ubiquinone reductase deficiency|isolated succinate-CoQ reductase deficiency	http://purl.obolibrary.org/obo/MONDO_0009641	Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Complex II deficiency can be caused by mutations in the SDHA, SDHB, SDHD, or SDHAF1 genes. In many cases the underlying gene mutations cannot be identified. Complex II deficiency is inherited in an autosomal recessive fashion. Complex II deficiency gene mutation carriers may be at an increased risk for certain cancers.	MESH:C565375|DOID:0060537|http://identifiers.org/omim/252011|SNOMEDCT:124165006|ORPHA:3208
MONDO:0010638	keratosis follicularis-dwarfism-cerebral atrophy syndrome	biolink:Disease	mondo	MESH:C536158|ICD10:Q87.1|OMIM:308830|UMLS:C1839910|GARD:0003099|Orphanet:2339	ordo_malformation_syndrome|gard_rare	keratosis follicularis, dwarfism, and cerebral atrophy|dwarfism, cerebral atrophy and generalized keratosis follicularis|keratosis follicularis dwarfism and cerebral atrophy	http://purl.obolibrary.org/obo/MONDO_0010638	Keratosis follicularis-dwarfism-cerebral atrophy syndrome is characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalized alopecia and microcephaly were also present.	MESH:C536158|UMLS:C1839910|ORPHA:2339|http://identifiers.org/omim/308830
MONDO:0009640	obsolete mitochondrial complex I deficiency, nuclear type	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0009640		
RO:0002571	lumen of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002571	x lumen_of y iff x is the space or substance that is part of y and does not cross any of the inner membranes or boundaries of y that is maximal with respect to the volume of the convex hull.	
RO:0002569	has branching part	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002569	inverse of branching part of	
HGNC:2153	CNGB3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2153		
HGNC:2151	CNGB1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2151		
MONDO:0010640	Leber optic atrophy, susceptibility to	biolink:Disease	mondo	OMIM:308905	predisposition	Loas|Leber hereditary optic neuropathy, modifier of|Lhon, modifier of|Leber optic atrophy, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0010640		http://identifiers.org/omim/308905
HGNC:2150	CNGA3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2150		
MONDO:0010642	Lesch-Nyhan phenotype with normal HGPRT	biolink:Disease	mondo	OMIM:308950		Lesch-Nyhan phenotype with normal HGPRT	http://purl.obolibrary.org/obo/MONDO_0010642		http://identifiers.org/omim/308950
MONDO:0010641	X-linked diffuse leiomyomatosis-Alport syndrome	biolink:Disease	mondo	GARD:0002432|MESH:C537113|ICD10:Q87.8|OMIM:308940|Orphanet:1018	ordo_disease	diffuse leiomyomatosis in Alport syndrome|leiomyomatosis, esophageal and vulval, with nephropathy|Xq22.3 microdeletion syndrome|leiomyomatosis, diffuse, with Alport syndrome|Alport syndrome and diffuse leiomyomatosis|chromosome Xq22.3 centromeric deletion syndrome|Alport syndrome with diffuse leiomyomatosis|DL-ATS|ATS-DL|leiomyomatosis, diffuse, with Alport syndrome; DL-ATS	http://purl.obolibrary.org/obo/MONDO_0010641	The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families.	ORPHA:1018|http://identifiers.org/omim/308940|MESH:C537113
RO:0002566	causally influences	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002566	Holds between materal entities a and b if the activity of a is causally upstream of the activity of b, or causally upstream of a an activity that modifies b	
MONDO:0010644	proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis	biolink:Disease	mondo	UMLS:C1839874|OMIM:308990		proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis	http://purl.obolibrary.org/obo/MONDO_0010644		UMLS:C1839874|http://identifiers.org/omim/308990
RO:0002567	biomechanically related to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002567	A relation that holds between elements of a musculoskeletal system or its analogs.	
MONDO:0010643	acute leukemia (disease)	biolink:Disease	mondo	ICD10:C95.00|DOID:12603|ICD10:C95.0|OMIM:308960|HP:0002488|ICDO:9801/3|NCIT:C9300|COHD:138708|EFO:1000068|ICD9:208.0|ICD9:208.00|SCTID:91855006|MESH:C564112		acute leukemia|stem cell leukaemia|stem cell leukemia|leukemia, acute, X-linked|stem cell leukemia (disease)	http://purl.obolibrary.org/obo/MONDO_0010643	A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts).	DOID:12603|SNOMEDCT:91855006|http://identifiers.org/omim/308960|NCIT:C9300|MESH:C564112
RO:0002568	has_muscle_antagonist	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002568	m1 has_muscle_antagonist m2 iff m1 acts in opposition to m2, and m2 is responsible for returning the structure to its initial position.	
MONDO:0022613	bruyn scheltens syndrome	biolink:Disease	mondo	GARD:0001034	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022613		
HP:0100529	Abnormal blood phosphate concentration	biolink:PhenotypicFeature	mondo	UMLS:C4022032		Abnormality of phosphate homeostasis	http://purl.obolibrary.org/obo/HP_0100529	An abnormality of phosphate homeostasis or concentration in the body.	
MONDO:0022615	burn goodship syndrome	biolink:Disease	mondo	GARD:0001041	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022615		
MONDO:0022618	burning mouth syndrome type 3	biolink:Disease	mondo	UMLS:C2931487|MESH:C537413|GARD:0008558	gard_rare	BMS-3|type 3 burning mouth syndrome|Psychiatric disorders coexisting with burning mouth syndrome	http://purl.obolibrary.org/obo/MONDO_0022618		MESH:C537413|UMLS:C2931487
HP:0100526	Neoplasm of the lung	biolink:PhenotypicFeature	mondo	NCIT:C3262|MSH:D008175|SNOMEDCT_US:126713003|UMLS:C0024121		Lung cancer|Lung tumor	http://purl.obolibrary.org/obo/HP_0100526	Tumor of the lung.	
HP:0100533	Inflammatory abnormality of the eye	biolink:PhenotypicFeature	mondo	UMLS:C4020969		Ocular inflammation|Inflammatory abnormality of the eye	http://purl.obolibrary.org/obo/HP_0100533	Inflammation of the eye, parts of the eye or the periorbital region.	
MONDO:0022610	bronchiectasis oligospermia	biolink:Disease	mondo	GARD:0001023	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022610		
MONDO:0009659	mucopolysaccharidosis type 4A	biolink:Disease	mondo	SCTID:7259005|DOID:0111391|NCIT:C84901|GARD:0003785|Orphanet:309297|ICD10:E76.2|OMIM:253000	ordo_clinical_subtype	mucopolysaccharidosis, type IVA|Morquio A disease|mucopolysaccharidosis type IVA|MPSIVA|galactosamine-6-sulfatase deficiency|MPS 4A|Morquio syndrome A|N-acetylgalactosamine-6-sulfate sulfatase deficiency|Morquio disease type A|mucopolysaccharidosis, type 4A|GALNS deficiency|MPS IVA|MPS IV A|MPS4A|mucopolysaccharidosis, type IVA; MPS4A	http://purl.obolibrary.org/obo/MONDO_0009659	A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits.	SNOMEDCT:7259005|DOID:0111391|http://identifiers.org/omim/253000|ORPHA:309297|NCIT:C84901
MONDO:0022611	Brunoni syndrome	biolink:Disease	mondo	UMLS:C2931486|MESH:C537408		mesomelia, radial hypoplasia bifid thumb unusual facies|mesomelic dwarfism, skeletal abnormalities, and ectodermal dysplasia	http://purl.obolibrary.org/obo/MONDO_0022611		UMLS:C2931486|MESH:C537408
HGNC:30348	POLR3B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30348		
MONDO:0022612	Brunsting-Perry syndrome	biolink:Disease	mondo	GARD:0010454|EFO:0008611|UMLS:C1304226	gard_rare	localized cicatricial pemphigoid|cicatricial pemphigoid of the Brunsting-Perry type|Brunsting Perry syndrome	http://purl.obolibrary.org/obo/MONDO_0022612		UMLS:C1304226
MONDO:0009658	Sanfilippo syndrome type D	biolink:Disease	mondo	Orphanet:79272|UMLS:C0086650|NCIT:C84900|SCTID:15892005|GARD:0007074|DOID:0111402|OMIM:252940|ICD10:E76.2	ordo_etiological_subtype	Sanfilippo syndrome D|mucopolysaccharidosis type 3D|Mucopoly-saccharidosis type 3D|mucopolysaccharidosis, type IIID|mucopolysaccharidosis, type IIID; MPS3D|Sanfilippo D|MPS 3D|MPS IIID|mucopolysaccharidosis type IIID|mucopolysaccharidosis, type 3D|N-acetylglucosamine-6-sulfate sulfatase deficiency|N-acetylglucosamine-6-sulfatase deficiency|MPSIIID|glucosamine N-acetyl-6-sulfatase deficiency|MPS III D|MPS3D|GNS deficiency	http://purl.obolibrary.org/obo/MONDO_0009658	A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays.	http://identifiers.org/omim/252940|UMLS:C0086650|DOID:0111402|SNOMEDCT:15892005|ORPHA:79272|NCIT:C84900
MONDO:0009657	Sanfilippo syndrome type C	biolink:Disease	mondo	DOID:0111393|Orphanet:79271|UMLS:C0086649|NCIT:C84899|GARD:0007073|SCTID:75238000|OMIM:252930|ICD10:E76.2	ordo_etiological_subtype	mucopolysaccharidosis type 3C|Sanfilippo syndrome C|Mucopoly-saccharidosis type 3C|mucopolysaccharidosis, type IIIC; MPS3C|mucopolysaccharidosis, type IIIC|Sanfilippo C|MPS IIIC|mucopolysaccharidosis type IIIC|MPS 3C|acetyl-CoA:alpha-glucosaminide N-acetyltransferase deficiency|mucopolysaccharidosis, type 3C|Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency|MPSIIIC|MPS III C|heparan-alpha-glucosaminide N-acetyltransferase deficiency|HGSNAT deficiency|MPS3C	http://purl.obolibrary.org/obo/MONDO_0009657	A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays.	UMLS:C0086649|SNOMEDCT:75238000|DOID:0111393|ORPHA:79271|NCIT:C84899|http://identifiers.org/omim/252930
MONDO:0010624	obsolete IFAP/BRESHECK syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0010624		
MONDO:0009656	Sanfilippo syndrome type B	biolink:Disease	mondo	DOID:0111394|UMLS:C0086648|SCTID:59990008|Orphanet:79270|OMIM:252920|NCIT:C84898|GARD:0007072|ICD10:E76.2	ordo_etiological_subtype	Mucopoly-saccharidosis type 3B|MPS3B|Sanfilippo B|Sanfilippo syndrome B|MPS IIIB|mucopolysaccharidosis, type IIIB; MPS3B|mucopolysaccharidosis type IIIB|N-acetyl-alpha-glucosaminidase deficiency|mucopolysaccharidosis, type IIIB|MPS 3B|MPS III B|mucopolysaccharidosis, type 3B|NAGLU deficiency|MPSIIIB|N-Acetyl-Alpha-D-glucosaminidase deficiency|mucopolysaccharidosis type 3B	http://purl.obolibrary.org/obo/MONDO_0009656	A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays.	UMLS:C0086648|DOID:0111394|ORPHA:79270|SNOMEDCT:59990008|NCIT:C84898|http://identifiers.org/omim/252920
MONDO:0010623	ichthyosis and male hypogonadism	biolink:Disease	mondo	UMLS:C1839989|ICD9:759.89|OMIM:308200|GARD:0009612|Orphanet:431|SCTID:2355008		Ruds|Ichthyosis-male hypogonadism syndrome|rud syndrome|ichthyosis and male hypogonadism	http://purl.obolibrary.org/obo/MONDO_0010623		ORPHA:431|UMLS:C1839989|SNOMEDCT:2355008|http://identifiers.org/omim/308200
MONDO:0009655	Sanfilippo syndrome type A	biolink:Disease	mondo	DOID:0111395|OMIM:252900|ICD10:E76.2|UMLS:C0086647|GARD:0007071|NCIT:C84897|Orphanet:79269|SCTID:41572006|GARD:0002649	ordo_etiological_subtype|gard_rare	mucopolysaccharidosis type IIIA|sulfamidase deficiency|mucopoly-saccharidosis type 3A|MPSIIIA|Sanfilippo A|MPS IIIA|mucopolysaccharidosis, type IIIA; MPS3A|Sanfilippo syndrome a|mucopolysaccharidosis, type IIIA|MPS III A|MPS3A|mucopolysaccharidosis type 3A|heparan sulfamidase deficiency|MPS 3A|heparan sulfate sulfatase deficiency|mucopolysaccharidosis, type 3A|heparane sulfamidase deficiency	http://purl.obolibrary.org/obo/MONDO_0009655	A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures.	UMLS:C0086647|SNOMEDCT:41572006|DOID:0111395|ORPHA:79269|NCIT:C84897|http://identifiers.org/omim/252900
MONDO:0010626	hyper-IgM syndrome type 1	biolink:Disease	mondo	SCTID:403835002|UMLS:C0398689|DOID:0060022|DOID:6620|ICD10:D80.5|Wikidata:Q3508611|GARD:0000073|NCIT:C61244|OMIM:308230|Orphanet:101088	ordo_clinical_subtype|gard_rare	immunodeficiency with hyper IgM type 1|HIGM1|hyper-IgM syndrome, X-linked|hyper IgM immunodeficiency, x-linked|IHIS|hyper-IgM immunodeficiency, X-linked|HIGM|immunodeficiency 3|XHIGM|hyper-IgM syndrome type 1|immunodeficiency with hyper-IgM, type 1; HIGM1|CD40 ligand deficiency|immunodeficiency with hyper-IgM, type 1|hyperimmunoglobulin M syndrome|X-linked hyper IgM syndrome|hyper-IgM syndrome due to CD40L deficiency|XHIM|hyper IgM syndrome 1|hyper-IgM syndrome due to CD40 ligand deficiency|hyper-IgM syndrome 1|hyper IgM syndrome|HIGMX-1|hyper-IgM syndrome|X-linked hyper-IgM syndrome	http://purl.obolibrary.org/obo/MONDO_0010626	Hyper IgM Syndrome Type 1 (HIGM-1) is the X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele.	DOID:6620|UMLS:C0398689|DOID:0060022|NCIT:C61244|ORPHA:101088|SNOMEDCT:403835002|http://identifiers.org/omim/308230
RO:0002563	interaction relation helper property	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002563		
MONDO:0009654	mucopolysaccharidoses, unclassified types	biolink:Disease	mondo	UMLS:C0220752|MESH:C562442|OMIM:252700		mucopolysaccharidoses, unclassified types	http://purl.obolibrary.org/obo/MONDO_0009654		UMLS:C0220752|MESH:C562442|http://identifiers.org/omim/252700
MONDO:0010625	immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein	biolink:Disease	mondo	MESH:C564120|OMIM:308220|UMLS:C1839982		immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein|Gpl115 deficiency	http://purl.obolibrary.org/obo/MONDO_0010625		MESH:C564120|UMLS:C1839982|http://identifiers.org/omim/308220
RO:0002564	molecular interaction relation helper property	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002564		
MONDO:0009653	mucolipidosis type IV	biolink:Disease	mondo	GTR:AN1125033|SCTID:111384001|OMIM:252650|GTR:AN1125032|ICD10:E75.1|UMLS:C0238286|GTR:AN1124590|Orphanet:578|NCIT:C84896|DOID:0080490|GTR:AN1148743|GARD:0000094|UMLS:CN716584	ordo_disease|gard_rare	mucolipidosis IV|mucolipidosis type 4|sialolipidosis|ML4|MLIV|Berman syndrome|mucolipidosis type IV|mucolipidosis 4|mucolipidosis IV; ML4|ML 4|ML IV|ganglioside neuraminidase deficiency|ganglioside sialidase deficiency	http://purl.obolibrary.org/obo/MONDO_0009653	Mucolipidosis type IV (ML IV) is a lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus.	DOID:0080490|ORPHA:578|UMLS:CN716584|NCIT:C84896|SNOMEDCT:111384001|http://identifiers.org/omim/252650|UMLS:C0238286
MONDO:0010628	immunoglobulin M, level of	biolink:Disease	mondo	OMIM:308250		immunoglobulin M, level of	http://purl.obolibrary.org/obo/MONDO_0010628		http://identifiers.org/omim/308250
MONDO:0010627	X-linked lymphoproliferative syndrome	biolink:Disease	mondo	ICD9:238.79|Orphanet:2442|SCTID:77121009|NCIT:C61246|DOID:0060705|MedDRA:10068348|UMLS:C0549463|ICD10:D82.3|GARD:0007906	prototype_pattern|ordo_disease|gard_rare	X-linked lymphoproliferative syndrome|lymphoproliferative syndrome, X-linked, 1|X-linked lymphoproliferative syndrome 1|Duncan disease|X-linked lymphoproliferative syndrome type 1|XLP1|Purtilo syndrome|SH2D1A-related lymphoproliferative disease, X-linked|X-linked lymphoproliferative disease|XLP|lymphoproliferative syndrome, X-linked, type 1|lymphoproliferative syndrome, X-linked|lymphoproliferative syndrome X-linked 1	http://purl.obolibrary.org/obo/MONDO_0010627	X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV).	ORPHA:2442|UMLS:C0549463|NCIT:C61246|SNOMEDCT:77121009|DOID:0060705|MEDDRA:10068348
MONDO:0009652	mucolipidosis type III gamma	biolink:Disease	mondo	Orphanet:423470|MESH:C565367|UMLS:C1854896|NCIT:C129978|OMIM:252605|ICD10:E77.0	ordo_clinical_subtype	mucolipidosis 3C|mucolipidosis III gamma|ML 3 gamma|mucolipidosis III, Iranian variant form|mucolipidosis III, variant form|mucolipidosis 3 gamma|ML 3C|ML III gamma|mucolipidosis III, complementation group C|mucolipidosis type 3 gamma	http://purl.obolibrary.org/obo/MONDO_0009652	Mucolipidosis III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.	MESH:C565367|NCIT:C129978|ORPHA:423470|UMLS:C1854896|http://identifiers.org/omim/252605
MONDO:0009651	obsolete pseudo-Hurler polydystrophy	biolink:Disease	mondo		ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0009651		
MONDO:0009650	mucolipidosis type II	biolink:Disease	mondo	NCIT:C61270|MESH:C538602|GARD:0006749|SCTID:70199000|Orphanet:576|UMLS:C0020725|ICD10:E77.0|DOID:0080070|OMIM:252500|UMLS:C2673377	ordo_disease	ML disorder type 2|ML 2 Alpha/Beta|mucolipidosis II|N-acetylglucosamine 1-phosphotransferase deficiency|I cell disease|I-cell disease|mucolipidosis 2|mucolipidosis type II|mucolipidosis II alpha/beta|inclusion cell disease|N-acetylglucosamine 1phosphotransferase deficiency|mucolipidosis 2 alpha/beta|ML 2|Leroy disease|mucolipidosis type II alpha/beta|GNPTA	http://purl.obolibrary.org/obo/MONDO_0009650	Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.	SNOMEDCT:70199000|ORPHA:576|NCIT:C61270|UMLS:C2673377|http://identifiers.org/omim/252500|UMLS:C2931894|UMLS:C0020725|DOID:0080070|MESH:C538602
MONDO:0010629	impacted teeth, multiple	biolink:Disease	mondo	OMIM:308280		impacted teeth, multiple	http://purl.obolibrary.org/obo/MONDO_0010629		http://identifiers.org/omim/308280
GO:0042537	benzene-containing compound metabolic process	biolink:OntologyClass	mondo			benzene-containing compound metabolism|benzene and derivative metabolic process|benzene and derivative metabolism	http://purl.obolibrary.org/obo/GO_0042537	The chemical reactions and pathways involving benzene, C6H6, a volatile, very inflammable liquid, contained in the naphtha produced by the destructive distillation of coal, from which it is separated by fractional distillation, or any of its derivatives.	
RO:0002559	causally influenced by	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002559		
NCBITaxon:29547	Epsilonproteobacteria	organism taxon	mondo	PMID:11837318|GC_ID:11|PMID:16403855		Proteobacteria epsilon subdivision|epsilon proteobacteria|e-proteobacteria|Purple bacteria, epsilon subdivision|epsilon subdivision|epsilon subgroup	http://purl.obolibrary.org/obo/NCBITaxon_29547		
MONDO:0010631	incontinentia pigmenti	biolink:Disease	mondo	NCIT:C84787|OMIM:308300|MESH:D007184|UMLS:C0021171|GARD:0006778|Orphanet:464|Wikipedia:Incongenita_pigmenti|ICD10:Q82.3|SCTID:367520004|DOID:12305|EFO:1000672	ordo_malformation_syndrome	incontinentia pigmenti; IP|Incontinentia pigmenti, type II, formerly|Bloch-Siemens syndrome|Incontinentia pigmenti syndrome|IP|Incontinentia pigmenti, type II|Incontinentia pigmenti type 2 (formerly)|Incontinentia pigmenti, familial Male-lethal type|Bloch-Sulzberger syndrome|incontinentia pigmenti|IP2 (formerly)	http://purl.obolibrary.org/obo/MONDO_0010631	Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).	MESH:D007184|DOID:12305|UMLS:C0021171|NCIT:C84787|http://identifiers.org/omim/308300|SNOMEDCT:367520004|ORPHA:464
MONDO:0010630	imprinting gene related to retinoblastoma	biolink:Disease	mondo	OMIM:308290		imprinting gene related to retinoblastoma	http://purl.obolibrary.org/obo/MONDO_0010630		http://identifiers.org/omim/308290
MONDO:0010633	iris hypoplasia with glaucoma	biolink:Disease	mondo	OMIM:308500|UMLS:C1839928|GARD:0009171|MESH:C535538	gard_rare	iris hypoplasia and glaucoma|iris hypoplasia with glaucoma; IHG|IHG|iris hypoplasia with glaucoma	http://purl.obolibrary.org/obo/MONDO_0010633		UMLS:C1839928|MESH:C535538|http://identifiers.org/omim/308500
MONDO:0010632	developmental and epileptic encephalopathy, 1	biolink:Disease	mondo	UMLS:C3463992|OMIM:308350|DOID:0080468		epileptic encephalopathy, early infantile, 1; EIEE1|early infantile epileptic encephalopathy caused by mutation in arx|early infantile epileptic encephalopathy caused by mutation in ARX|XMESID|infantile epileptic-dyskinetic encephalopathy|EIEE1|infantile spasm syndrome, X-linked 1|ARX early infantile epileptic encephalopathy|arx early infantile epileptic encephalopathy|Ohtahara syndrome, X-linked|West syndrome, X-linked|epileptic encephalopathy, early infantile, type 1|DEE1|epileptic encephalopathy, early infantile, 1	http://purl.obolibrary.org/obo/MONDO_0010632	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARX gene.	UMLS:C3463992|http://identifiers.org/omim/308350|DOID:0080468
MONDO:0022602	brachydactyly small stature face anomalies	biolink:Disease	mondo	GARD:0000974	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022602		
MONDO:0022603	brachydactyly tibial hypoplasia	biolink:Disease	mondo	GARD:0000977	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022603		
MONDO:0022605	brachymetapody anodontia hypotrichosis albinoidism	biolink:Disease	mondo	GARD:0000992	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022605		
MONDO:0022606	branchial arch disease	biolink:Disease	mondo	GARD:0001001	gard_rare	pharyngeal system development disease|disorder of pharyngeal system development|disease of pharyngeal system development|disorder of pharyngeal system development	http://purl.obolibrary.org/obo/MONDO_0022606	A disease that involves the pharyngeal system development.	
HGNC:17397	BANF1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17397		
MONDO:0022607	extraovarian Brenner tumor of the vagina	biolink:Disease	mondo	GARD:0010006	gard_rare	vagina Brenner tumor|extraovarian Brenner tumor of the vagina|Brenner tumor of the vagina	http://purl.obolibrary.org/obo/MONDO_0022607	A Brenner tumor that involves the vagina.	
MONDO:0022608	brittle bone syndrome lethal type	biolink:Disease	mondo	GARD:0001018	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022608		
MONDO:0022609	bronchial adenomas/carcinoids childhood	biolink:Disease	mondo	UMLS:C4013426|GARD:0009313	gard_rare	bronchial carcinoids	http://purl.obolibrary.org/obo/MONDO_0022609		UMLS:C4013426
HP:0100545	Arterial stenosis	biolink:PhenotypicFeature	mondo	UMLS:C0038449|SNOMEDCT_US:68109007		Narrowing of an artery	http://purl.obolibrary.org/obo/HP_0100545	Narrowing or constriction of the inner surface (lumen) of an artery.	
HP:0100543	Cognitive impairment	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:386806002|MSH:D060825|UMLS:C0683322|UMLS:C0338656		Mental impairment|Cognitive impairment|Cognitive abnormality|Cognitive deficits|Cognitive defects|Intellectual impairment|Abnormality of cognition	http://purl.obolibrary.org/obo/HP_0100543	Abnormality in the process of thought including the ability to process information.	
MONDO:0009629	Desbuquois dysplasia 1	biolink:Disease	mondo	UMLS:C4012146|OMIM:251450		DBQD1|Desbuquois dysplasia 1; DBQD1|Desbuquois dysplasia caused by mutation in CANT1|Desbuquois dysplasia 1|desbuquois syndrome|CANT1 Desbuquois dysplasia|Desbuquois dysplasia type 1|Desbuquois dysplasia, Kim variant|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification	http://purl.obolibrary.org/obo/MONDO_0009629	Any Desbuquois dysplasia in which the cause of the disease is a mutation in the CANT1 gene.	http://identifiers.org/omim/251450|UMLS:C4012146
MONDO:0009628	microcolon (disease)	biolink:Disease	mondo	ICD9:751.5|NCIT:C98987|OMIM:251400|HP:0004388|MESH:C562563|SCTID:18389004		microcolon	http://purl.obolibrary.org/obo/MONDO_0009628	A rare congenital abnormality characterized by the presence of an abnormally small colon. It is the result of intestinal underutilization during fetal development.	SNOMEDCT:18389004|MESH:C562563|NCIT:C98987|http://identifiers.org/omim/251400
MONDO:0009627	Galloway-Mowat syndrome	biolink:Disease	mondo	GARD:65|MESH:C537548|OMIMPS:251300|UMLS:C0795949|Orphanet:2065|NCIT:C132195|SCTID:721297008|ICD10:Q04.3|DOID:0080694|GARD:0000065	gard_rare|prototype_pattern|ordo_malformation_syndrome	nephrosis neuronal dysmigration syndrome|spinocerebellar ataxia, autosomal recessive 5|microcephaly, hiatal hernia and nephrotic syndrome|nephrosis-neuronal dysmigration syndrome|hiatal hernia-microcephaly-nephrosis, Galloway type|spinocerebellar ataxia, autosomal recessive 5, formerly|Galloway-Mowat syndrome; GAMOS|Galloway syndrome|GAMOS|nephrosis-microcephaly syndrome|microcephaly, hiatal hernia, and nephrotic syndrome|cerebellar ataxia with intellectual disability, optic atrophy, and skin abnormalities|cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities|microcephaly nephrosis syndrome|microcephaly-hiatus hernia-nephrotic syndrome|Galloway Mowat syndrome|Galloway-Mowat syndrome	http://purl.obolibrary.org/obo/MONDO_0009627	Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.	ORPHA:2065|MESH:C537548|UMLS:C0795949|SNOMEDCT:721297008|NCIT:C132195|DOID:0080694
MONDO:0009626	pseudo-TORCH syndrome	biolink:Disease	mondo	GARD:0012426|GARD:0000815|ICD10:Q87.8|UMLS:C3489725|SCTID:722390006|DOID:0050656|Orphanet:1229|OMIMPS:251290	gard_rare|ordo_malformation_syndrome|prototype_pattern	pseudo-TORCH syndrome 1|bilateral band-like calcification with polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|band-like calcification with simplified gyration and polymicrogyria|pseudo-TORCH syndrome|BLCPMG|pseudo-TORCH syndrome 1; PTORCH1|Baraitser-Brett-Piesowicz syndrome|congenital intrauterine infection-like syndrome|microcephaly - intracranial calcification - intellectual disability|Baraitser Brett Piesowicz syndrome|band-like calcification with simplified gyration and polymicrogyria|microcephaly intracranial calcification|pseudo-TORCH syndrome type 1|Baraitser-Reardon syndrome|band-like calcification with simplified gyration and polymicrogyria; BLCPMG|PTORCH1|BLC-PMG	http://purl.obolibrary.org/obo/MONDO_0009626	Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.	UMLS:C2931662|http://identifiers.org/omim/251290|ORPHA:1229|DOID:0050656|UMLS:C3489725|SNOMEDCT:722390006
MONDO:0009625	diencephalic-mesencephalic junction dysplasia syndrome 1	biolink:Disease	mondo	GARD:0008510|UMLS:C1855055|MESH:C537546|OMIM:251280	gard_rare	MISSBC|microcephaly, seizures, spasticity, and brain calcifications; MISSBC|microcephaly, seizures, spasticity, and brain calcifications|DMJDS1|microcephaly with spastic quadriplegia|recessive microcephaly with spastic quadriplegia	http://purl.obolibrary.org/obo/MONDO_0009625		http://identifiers.org/omim/251280|MESH:C537546|UMLS:C1855055
MONDO:0009624	microcephaly and chorioretinopathy 1	biolink:Disease	mondo	NCIT:C129306|ICD10:Q87.8|DOID:0080105|Orphanet:2518|OMIM:251270	ordo_malformation_syndrome	Pseudotoxoplasmosis syndrome|microcephaly and chorioretinopathy, autosomal recessive, 1; MCCRP1|microcephaly and chorioretinopathy, autosomal recessive, 1|autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome|microcephaly and chorioretinopathy, autosomal recessive, type 1|microcephaly and chorioretinopathy type 1|autosomal recessive chorioretinopathy-microcephaly syndrome|microcephaly and chorioretinopathy caused by mutation in TUBGCP6|TUBGCP6 microcephaly and chorioretinopathy|MCCRP1	http://purl.obolibrary.org/obo/MONDO_0009624	An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy.	http://identifiers.org/omim/251270|ORPHA:2518|DOID:0080105|NCIT:C129306
MONDO:0010613	inborn glycerol kinase deficiency	biolink:Disease	mondo	SCTID:124322002|DOID:0060363|OMIM:307030|Orphanet:308993	ordo_group_of_disorders	rare inborn error of glycerol kinase activity|glycerol kinase deficiency; GKD|GK1 deficiency|glycerol kinase deficiency|GKD|inborn error of glycerol kinase activity|inborn glycerol kinase activity disorder|rare inborn error of glycerol kinase activity|hyperglycerolemia|GK deficiency	http://purl.obolibrary.org/obo/MONDO_0010613	An acquired metabolic disease that is has its basis in the disruption of glycerol kinase activity.	DOID:0060363|SNOMEDCT:124322002|UMLS:C0268418|ORPHA:308993|http://identifiers.org/omim/307030
RO:0002551	has skeleton	biolink:OntologyClass	mondo			has supporting framework|has sekeletal support	http://purl.obolibrary.org/obo/RO_0002551	A relation between a subdivision of an organism and the single subdivision of skeleton that provides structural support for that subdivision.	
MONDO:0010612	hydrocephaly-cerebellar agenesis syndrome	biolink:Disease	mondo	Orphanet:1397|ICD10:Q04.3|GARD:0001200|OMIM:307010|UMLS:C1844005|MESH:C564407	ordo_malformation_syndrome|gard_rare	X-linked hydrocephalus-cerebellar agenesis-intellectual disability syndrome|hydrocephalus with cerebellar agenesis|cerebellum agenesis hydrocephaly	http://purl.obolibrary.org/obo/MONDO_0010612	This syndrome is characterised by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported.	UMLS:C1844005|ORPHA:1397|MESH:C564407|http://identifiers.org/omim/307010
MONDO:0009623	Nijmegen breakage syndrome	biolink:Disease	mondo	UMLS:C0398791|GARD:0003904|MESH:D049932|UMLS:CN860323|OMIM:251260|SCTID:234638009|NCIT:C4692|ICD10:Q87.8|DOID:7400|Orphanet:647|MedDRA:10067857	ordo_malformation_syndrome|gard_rare	Nonsyndromal microcephaly, autosomal recessive, with normal intelligence|Seemanova syndrome 2|immunodeficiency-microcephaly-chromosomal instability syndrome|Nijmegen breakage syndrome; NBs|Nijmegen breakage syndrome|Seemanova syndrome|AT V1|microcephaly immunodeficiency lymphoreticuloma|Nonsyndromal microcephaly autosomal recessive with normal intelligence|microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies|ataxia-telangiectasia variant V2|ataxia-telangiectasia, variant 1|immunodeficiency, microcephaly, and chromosomal instability|ataxia-telangiectasia variant V1|microcephaly, normal intelligence and immunodeficiency|microcephaly-immunodeficiency-lymphoreticuloma syndrome|NBs|Berlin breakage syndrome|Seemanova syndrome type 2|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies	http://purl.obolibrary.org/obo/MONDO_0009623	Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.	NCIT:C4692|http://identifiers.org/omim/251260|DOID:7400|UMLS:C2930831|MEDDRA:10067857|MESH:C531759|UMLS:C0398791|ORPHA:647|UMLS:CN860323|SNOMEDCT:234638009|MESH:D049932
HGNC:29347	KLHL15	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29347		
MONDO:0010615	isolated growth hormone deficiency type III	biolink:Disease	mondo	SCTID:234533006|DOID:0060875|GARD:0003921|OMIM:307200|MESH:C537149|Orphanet:231692|ICD10:E23.0	gard_rare|ordo_clinical_subtype	hypogammaglobulinemia and isolated Growth hormone deficiency, X-linked|isolated growth hormone deficiency, type III; IGHD3|congenital isolated growth hormone deficiency type III|X-linked hypogammaglobulinemia and isolated growth hormone deficiency|Growth hormone deficiency with hypogammaglobulinemia|X-linked agammaglobulinemia and isolated growth hormone deficiency|congenital IGHD type III|growth hormone deficiency with hypogammaglobulinemia|X-linked IGHD|IGHD III|isolated growth hormone deficiency type 3|IGHD3|X-linked isolated growth hormone deficiency|IGHD 3|Fleisher syndrome|congenital isolated GH deficiency type III|agammaglobulinemia and isolated Growth hormone deficiency, X-linked|isolated growth hormone deficiency, type III|isolated growth hormone deficiency, type 3	http://purl.obolibrary.org/obo/MONDO_0010615		http://identifiers.org/omim/307200|ORPHA:231692|MESH:C537149|SNOMEDCT:234533006|DOID:0060875
MONDO:0009622	Jawad syndrome	biolink:Disease	mondo	Orphanet:313795|UMLS:C0796063|OMIM:251255	ordo_malformation_syndrome	Kelly syndrome|microcephaly with intellectual disability and digital anomalies|JAWAD syndrome; JWDS|Jawad syndrome|microcephaly with mental retardation and digital anomalies|JWDS	http://purl.obolibrary.org/obo/MONDO_0009622	Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.	http://identifiers.org/omim/251255|UMLS:C0796063|ORPHA:313795
MONDO:0010614	X-linked congenital generalized hypertrichosis	biolink:Disease	mondo	GARD:0002863|ICD10:Q84.2|MESH:C538388|Orphanet:79495|OMIM:307150	ordo_clinical_subtype|gard_rare	congenital generalized hypertrichosis, Macias-Flores type|chromosome Xq27.1 Interchromosomal insertion syndrome|hCG|hypertrichosis, congenital generalized|hypertrichosis congenital generalized X-linked|Macias-Flores Garcia-Cruz Rivera syndrome|chromosome Xq27.1 interchromosomal insertion syndrome|Cgh|HTC2|hypertrichosis, congenital generalized; HTC2|Macias Flores-Garcia Cruz-Rivera syndrome	http://purl.obolibrary.org/obo/MONDO_0010614	X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.	MESH:C538388|ORPHA:79495|UMLS:C2931836|http://identifiers.org/omim/307150
MONDO:0009621	microcephaly-cervical spine fusion anomalies syndrome	biolink:Disease	mondo	OMIM:251250|UMLS:C0796066|MESH:C537325|SCTID:715462003|ICD10:Q87.8|GARD:0003610|Orphanet:2522	ordo_malformation_syndrome	microcephaly with cervical spine fusion anomalies|microcephaly cervical spine fusion anomalies|microcephaly, mild mental retardation, short stature, and skeletal anomalies|microcephaly, mild intellectual disability, short stature, and skeletal anomalies	http://purl.obolibrary.org/obo/MONDO_0009621	Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive.	UMLS:C0796066|http://identifiers.org/omim/251250|ORPHA:2522|MESH:C537325|SNOMEDCT:715462003
MONDO:0009620	Say-Barber-Miller syndrome	biolink:Disease	mondo	OMIM:251240|GARD:0000239|Orphanet:3132|ICD10:Q87.8|SCTID:721903007|MESH:C536618	ordo_malformation_syndrome|gard_rare	microcephaly hypogammaglobulinemia abnormal immunity|microcephaly with chemotactic defect and transient hypogammaglobulinemia|microcephaly-hypogammaglobulinemia-abnormal immunity syndrome|Say Barber Miller syndrome	http://purl.obolibrary.org/obo/MONDO_0009620	Say-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation.	http://identifiers.org/omim/251240|ORPHA:3132|MESH:C536618|UMLS:C2931267|SNOMEDCT:721903007
MONDO:0010617	male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome	biolink:Disease	mondo	OMIM:307500|ICD10:Q87.8|Orphanet:2234|MESH:C564406|SCTID:722459008	ordo_malformation_syndrome	Sohval-Soffer syndrome|hypogonadism, MALE, with intellectual disability and skeletal anomalies|hypogonadism, MALE, with mental retardation and skeletal anomalies	http://purl.obolibrary.org/obo/MONDO_0010617	This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.	ORPHA:2234|http://identifiers.org/omim/307500|MESH:C564406|UMLS:C2931285|SNOMEDCT:722459008
MONDO:0010616	obsolete hypogonadism, male	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0010616		
MONDO:0010619	X-linked dominant hypophosphatemic rickets	biolink:Disease	mondo	OMIM:307800|ICD10:E83.3|NCIT:C123265|DOID:0050445|SCTID:82236004|GARD:0012943|Orphanet:89936|ICD10:E83.31|MESH:D053098	ordo_disease	XLH|X-linked hypophosphatemia|XLHR|HPDR|X-linked hereditary hypophosphatemic rickets|hypophophatemic vitamin D-resistant rickets|hypophosphatemic rickets, X-linked dominant|hypophosphatemia, X-linked|hereditary hypophosphatemic rickets, X-linked|hypophosphatemic rickets X-linked dominant|hypophosphatemia, vitamin D-resistant rickets|hypophosphatemic vitamin D-resistant rickets|X-linked hypophosphatemic rickets|hypophosphatemic rickets, X-linked dominant; XLHR|HYP|rickets, vitamin D-resistant|hypophosphatemic rickets, X-linked|hypophophatemia, X-linked|vitamin D-resistant rickets, X-linked	http://purl.obolibrary.org/obo/MONDO_0010619	X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.	ORPHA:89936|http://identifiers.org/omim/307800|MESH:D053098|DOID:0050445|SNOMEDCT:82236004|NCIT:C123265
MONDO:0010618	familial isolated hypoparathyroidism due to agenesis of parathyroid gland	biolink:Disease	mondo	NCIT:C131079|MESH:C563238|OMIM:307700|Orphanet:2239|ICD10:E20.8|UMLS:CN201292	ordo_clinical_subtype	parathyroid glands, agenesis of|HYPX|hypoparathyroidism, X-linked; HYPX|X-linked hypoparathyroidism|hypoparathyroidism, X-linked	http://purl.obolibrary.org/obo/MONDO_0010618	Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis).	ORPHA:2239|UMLS:CN201292|http://identifiers.org/omim/307700|NCIT:C131079|MESH:C563238
HGNC:2172	CNTN2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2172		
MONDO:0010620	hypouricemia, familial renal, due to tubular hypersecretion	biolink:Disease	mondo	OMIM:307830|UMLS:C1843972|MESH:C564405		hypouricemia, familial renal, due to tubular hypersecretion	http://purl.obolibrary.org/obo/MONDO_0010620		MESH:C564405|UMLS:C1843972|http://identifiers.org/omim/307830
HGNC:2171	CNTN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2171		
MONDO:0010622	recessive X-linked ichthyosis	biolink:Disease	mondo	SCTID:3944006|UMLS:C0079588|GARD:0007904|MedDRA:10048063|Orphanet:461|NCIT:C84779|DOID:1700|ICD10:Q80.1|OMIM:308100	ordo_disease	XLI|X-linked placental steryl-sulphatase deficiency|placental steroid sulfatase deficiency|ichthyosis, X-linked|SSDD|X-linked ichthyosis|ichthyosis, X-linked, complicated|X-linked recessive ichthyosis|RXLI|X linked ichthyosis|X-linked ichthyosis with steryl-sulphatase deficiency|ichthyosis, X-linked; XLI|steroid sulfatase deficiency|STS deficiency|ichthyosis (disease), X-linked|steroid sulfatase deficiency disease	http://purl.obolibrary.org/obo/MONDO_0010622	Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.	ORPHA:461|UMLS:C0079588|UMLS:C2717836|SNOMEDCT:3944006|DOID:1700|MESH:D016114|NCIT:C84779|http://identifiers.org/omim/308100|MEDDRA:10048063
MONDO:0010621	CHILD syndrome	biolink:Disease	mondo	SCTID:17608003|ICD10:Q87.8|GARD:0006039|ICD9:759.89|MESH:C562515|UMLS:C0265267|Orphanet:139|OMIM:308050	ordo_disease|gard_rare	child syndrome|congenital hemidysplasia with ichthyosiform nevus and limbs defects|ichthyosis, child syndrome|child nevus|ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs|congenital hemidysplasia with ichthyosiform erythroderma and limb defects|congenital hemidysplasia with ichthyosiform nevus and limb defects	http://purl.obolibrary.org/obo/MONDO_0010621	CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.	SNOMEDCT:17608003|MESH:C562515|http://identifiers.org/omim/308050|ORPHA:139|UMLS:C0265267
HGNC:30343	DNAJC13	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30343		
HP:0100547	Abnormality of forebrain morphology	biolink:PhenotypicFeature	mondo	UMLS:C4020967		Abnormal shape of forebrain|Abnormality of the forebrain	http://purl.obolibrary.org/obo/HP_0100547	An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle.	
HGNC:17366	AASS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17366		
MONDO:0010609	obsolete Hirschsprung disease with type d brachydactyly	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0010609		
MONDO:0009639	obsolete mitochondrial myopathy with lactic acidosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0009639		
MONDO:0009638	mitochondrial myopathy with a defect in mitochondrial-protein transport	biolink:Disease	mondo	UMLS:C1855034|OMIM:251945|MESH:C565376		mitochondrial myopathy with a defect in mitochondrial-protein transport	http://purl.obolibrary.org/obo/MONDO_0009638		http://identifiers.org/omim/251945|UMLS:C1855034|MESH:C565376
MONDO:0009637	inborn mitochondrial myopathy	biolink:Disease	mondo	GARD:0011956|MedDRA:10027710|Orphanet:206966|MESH:D017240|UMLS:C0162670|DOID:699|NCIT:C101328|ICD10:G71.3	ordo_group_of_disorders	mitochondrial myopathy|mitochondrial cytopathy	http://purl.obolibrary.org/obo/MONDO_0009637	Myopathy caused by mitochondrial abnormalities.	MEDDRA:10027710|UMLS:C0162670|DOID:699|NCIT:C101328|MESH:D017240|ORPHA:206966
MONDO:0009636	mitochondrial DNA depletion syndrome 3	biolink:Disease	mondo	UMLS:C3151513|UMLS:C4310935|DOID:0080121|OMIM:251880|Orphanet:279934	ordo_disease	mitochondrial DNA depletion syndrome 3 (hepatocerebral type)|mitochondrial DNA depletion syndrome 3 (hepatocerebral type); MTDPS3|DGUOK mitochondrial DNA depletion syndrome|MTDPS3|mitochondrial DNA depletion syndrome type 3|mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency|mitochondrial DNA depletion syndrome caused by mutation in DGUOK	http://purl.obolibrary.org/obo/MONDO_0009636	Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the DGUOK gene.	http://identifiers.org/omim/251880|DOID:0080121|UMLS:C4310935|UMLS:C3151513|ORPHA:279934
MONDO:0010602	hemophilia A	biolink:Disease	mondo	UMLS:CN239112|MedDRA:10016080|OMIM:306700|OMIM:134500|ICD10:D66|GARD:0006591|ICD9:286.0|NCIT:C27146|Orphanet:98878|EFO:0007267|MESH:D006467|SCTID:234440005|DOID:12134|UMLS:C0019069	ordo_disease	hem A|hereditary Factor VIII deficiency disease|classic hemophilia|hemophilia, classic|factor VIII deficiency|hemophilia A; HEMA|hemophilia A, congenital|Subhemophilia|congenital factor VIII disorder|hemophilia A|classical hemophilia|HEMA|hereditary Factor VIII deficiency|autosomal hemophilia a|hemophilia type a|hemophilia type A|factor 8 deficiency|Haemophilia A	http://purl.obolibrary.org/obo/MONDO_0010602	Hemophilia A is the most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.	UMLS:CN239112|http://identifiers.org/omim/306700|MEDDRA:10016080|ORPHA:98878|UMLS:C0019069|NCIT:C27146|DOID:12134|MESH:D006467|http://identifiers.org/omim/134500|SNOMEDCT:234440005
MONDO:0009635	microvillus inclusion disease	biolink:Disease	mondo	ICD10:P78.3|GARD:0007039|Orphanet:2290|DOID:0060775|ICD9:579.8|OMIM:251850|MedDRA:10068494|SCTID:235729009|UMLS:C0341306	ordo_disease	MVID|microvillous inclusion disease|diarrhea 2, with microvillus atrophy|microvillus inclusion disease|Davidson's disease|congenital microvillus atrophy|familial enteropathy, microvillus|Davidson disease|congenital familial protracted diarrhea with enterocyte Brush-border abnormalities|MYO5B secretory diarrhea|microvillus atrophy, congenital|diarrhea 2, with microvillus atrophy; DIAR2|diarrhea 2 with microvillus atrophy|intractable diarrhea of infancy|congenital microvillous atrophy|MVD|DIAR2|secretory diarrhea caused by mutation in MYO5B|congenital familial protracted diarrhea with enterocyte brush-border abnormalities|congenital familial protracted diarrhea	http://purl.obolibrary.org/obo/MONDO_0009635	Microvillus inclusion disease (MVID) is a very rare, severe, malabsorbative syndrome characterized clinically by protracted or intractable neonatal secretory diarrhea and histologically by inclusion bodies on the intestinal epithelium.	ORPHA:2290|http://identifiers.org/omim/251850|SNOMEDCT:235729009|UMLS:C0341306|DOID:0060775|MEDDRA:10068494
GO:0042552	myelination	biolink:OntologyClass	mondo			myelinogenesis	http://purl.obolibrary.org/obo/GO_0042552	The process in which myelin sheaths are formed and maintained around neurons. Oligodendrocytes in the brain and spinal cord and Schwann cells in the peripheral nervous system wrap axons with compact layers of their plasma membrane. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier.	
HGNC:29357	ASXL3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29357		
MONDO:0010601	obsolete gynecomastia, familial	biolink:Disease	mondo	OMIM:306500|MESH:C564416|UMLS:C1844375		gynecomastia, familial|hereditary gynecomastia	http://purl.obolibrary.org/obo/MONDO_0010601	An instance of gynecomastia that is caused by an inherited modification of the individual's genome.	UMLS:C1844375|http://identifiers.org/omim/306500|MESH:C564416
MONDO:0009634	microtia with meatal atresia and conductive deafness	biolink:Disease	mondo	OMIM:251800|GARD:0000357|UMLS:C2931502|GARD:0003657|MESH:C537469	gard_rare	Gupta Patton syndrome|familial microtia with meatal atresia and conductive deafness|familial microtia and meatal atresia|microtia, meatal atresia and conductive deafness|microtia with meatal atresia and conductive deafness|microtia meatal atresia deafness dominant	http://purl.obolibrary.org/obo/MONDO_0009634		http://identifiers.org/omim/251800|MESH:C537469|UMLS:C2931502
MONDO:0009633	microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma	biolink:Disease	mondo	OMIM:251750|UMLS:C3538951		microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma; MSPKA|MSPKA|microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma	http://purl.obolibrary.org/obo/MONDO_0009633		http://identifiers.org/omim/251750|UMLS:C3538951
MONDO:0010604	hemophilia B	biolink:Disease	mondo	EFO:0009154|NCIT:C26721|SCTID:41788008|OMIM:306900|ICD10:D67|ICD9:286.1|MESH:D002836|MedDRA:10016077|UMLS:C0008533|DOID:12259|Orphanet:98879|GARD:0008732	gard_rare|ordo_disease	congenital factor IX deficiency|factor 9 deficiency|congenital factor IX disorder|hereditary Factor IX deficiency disease|hemophilia B(M)|plasma thromboplastin component deficiency|deficiency, functional factor IX|hemophilia type B|hemophilia B; HEMB|hem B|hemophilia B Leyden|factor IX deficiency|HEMB|F9 deficiency|hereditary Factor IX deficiency|Christmas disease|hemophilia B	http://purl.obolibrary.org/obo/MONDO_0010604	Hemophilia B is a form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency.	MESH:D002836|http://identifiers.org/omim/306900|MEDDRA:10016077|ORPHA:98879|UMLS:C0008533|DOID:12259|SNOMEDCT:41788008|NCIT:C26721
MONDO:0010603	hemophilia A with vascular abnormality	biolink:Disease	mondo	MESH:C564415|UMLS:C1844137|OMIM:306800		hemophilia A with vascular abnormality	http://purl.obolibrary.org/obo/MONDO_0010603		UMLS:C1844137|http://identifiers.org/omim/306800|MESH:C564415
MONDO:0009632	microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies	biolink:Disease	mondo	MESH:C566884|UMLS:C1968637|OMIM:251700		microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies	http://purl.obolibrary.org/obo/MONDO_0009632		http://identifiers.org/omim/251700|MESH:C566884|UMLS:C1968637
MONDO:0009631	isolated microphthalmia 1	biolink:Disease	mondo	UMLS:C1855052|DOID:0060840|OMIM:251600|MESH:C565377|ICD10:Q11.0		Mcop|microphthalmos, autosomal recessive|isolated microphthalmia type 1|microphthalmia, isolated 1|anophthalmia, clinical, isolated|MCOP1|microphthalmia, isolated 1; MCOP1	http://purl.obolibrary.org/obo/MONDO_0009631	A microphthalmia that has material basis in variation in the chromosomal region 14q32.	http://identifiers.org/omim/251600|UMLS:C1855052|MESH:C565377|DOID:0060840
MONDO:0010606	hernia, anterior diaphragmatic	biolink:Disease	mondo	MESH:C564413|OMIM:306950		hernia, anterior diaphragmatic	http://purl.obolibrary.org/obo/MONDO_0010606		http://identifiers.org/omim/306950|MESH:C564413
MONDO:0009630	microphthalmia, isolated, with coloboma 4	biolink:Disease	mondo	SCTID:715771008|UMLS:C1855053|OMIM:251505		MCOPCB4|microphthalmia with colobomatous cyst|microphthalmia, isolated, with coloboma type 4|microphthalmia, isolated, with coloboma 4; MCOPCB4|microphthalmia, isolated, with coloboma 4	http://purl.obolibrary.org/obo/MONDO_0009630		http://identifiers.org/omim/251505|UMLS:C1855053|SNOMEDCT:715771008
MONDO:0010605	hemopoietic proliferation	biolink:Disease	mondo	OMIM:306930		hemopoietic proliferation	http://purl.obolibrary.org/obo/MONDO_0010605		http://identifiers.org/omim/306930
MONDO:0010608	Hhhh syndrome	biolink:Disease	mondo	MESH:C564411|UMLS:C1844019|OMIM:306960		hereditary Hemihypotrophy hemiparesis hemiathetosis syndrome|Hhhh syndrome	http://purl.obolibrary.org/obo/MONDO_0010608		UMLS:C1844019|http://identifiers.org/omim/306960|MESH:C564411
MONDO:0010607	heterotaxy, visceral, 1, X-linked	biolink:Disease	mondo	OMIM:306955|GARD:0008591|MESH:C538116|UMLS:C1844020|EFO:0009136	gard_rare	heterotaxy, visceral, 1, X-linked; HTX1|X-linked visceral heterotaxy 1|heterotaxy, visceral, X-linked|laterality, X-linked|HTX1|dextrocardia with Other Cardiac malformations|situs inversus, Complex Cardiac defects, and splenic defects, X-linked|congenital heart defects, multiple types, 1, X-linked|heterotaxy, visceral, 1, X-linked|ZIC3 visceral heterotaxy|visceral heterotaxy caused by mutation in ZIC3	http://purl.obolibrary.org/obo/MONDO_0010607	X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen in males. Physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis ; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia).Affected individualscan also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly, myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus. Heterotaxia with recurrent respiratory infections are called primary ciliary dyskinesia.	MESH:C538116|UMLS:C1844020|http://identifiers.org/omim/306955
HGNC:2186	COL11A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2186		
HGNC:2185	COL10A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2185		
HGNC:2183	VPS13B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2183		
GO:0042558	pteridine-containing compound metabolic process	biolink:OntologyClass	mondo			pterin metabolism|pteridine-containing compound metabolism|pteridine and derivative metabolic process|pterin metabolic process|pteridine and derivative metabolism	http://purl.obolibrary.org/obo/GO_0042558	The chemical reactions and pathways involving any compound containing pteridine (pyrazino(2,3-dipyrimidine)), e.g. pteroic acid, xanthopterin and folic acid.	
MONDO:0010611	X-linked hydrocephalus with stenosis of the aqueduct of Sylvius	biolink:Disease	mondo	ICD10:Q03.0|SCTID:71779008|OMIM:307000|GARD:0000434|Orphanet:2182	ordo_clinical_subtype	XLAS|HYCX|hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction|hydrocephalus due to congenital stenosis of aqueduct of Sylvius; HSAS|aqueductal stenosis, X-linked|HSAS|Bickers-Adams syndrome|X-linked hydrocephalus|HSAS1|X-linked hydrocephalus with stenosis of aqueduct of Sylvius|hydrocephalus due to congenital stenosis of aqueduct of Sylvius|hydrocephalus, X-linked|X-linked HSAS|hydrocephalus with stenosis of the aqueduct of Sylvius|X-linked acqueductal stenosis	http://purl.obolibrary.org/obo/MONDO_0010611	A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.	UMLS:C0265216|http://identifiers.org/omim/307000|ORPHA:2182|SNOMEDCT:71779008
HGNC:2180	COCH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2180		
MONDO:0010610	holoprosencephaly-hypokinesia-congenital contractures syndrome	biolink:Disease	mondo	SCTID:716169009|OMIM:306990|ICD10:Q04.2|GARD:0003788|MESH:C564409|Orphanet:2570	ordo_malformation_syndrome	holoprosencephaly-fetal akinesia/hypokinesia sequence syndrome|holoprosencephaly with fetal akinesia/hypokinesia sequence|Morse-Rawnsley-Sargent syndrome	http://purl.obolibrary.org/obo/MONDO_0010610	Holoprosencephaly-hypokinesia syndrome is an extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. An X-linked recessive inheritance has been suggested.	http://identifiers.org/omim/306990|MESH:C564409|SNOMEDCT:716169009|ORPHA:2570
HGNC:2188	COL12A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2188		
HGNC:2187	COL11A2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2187		
MONDO:0019010	congenital isolated hyperinsulinism	biolink:Disease	mondo	NCIT:C122923|GARD:0003947|ICD10:E16.1|Orphanet:657	ordo_group_of_disorders	hypoglycemia hyperinsulinemic of infancy|congenital hyperinsulinism|PHHI|persistent hyperinsulinemic hypoglycemia of infancy|hyperinsulinemic hypoglycemia familial|chi|hyperinsulinism familial with pancreatic nesidioblastosis|hyperinsulinism congenital	http://purl.obolibrary.org/obo/MONDO_0019010	Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism.	UMLS:C1257959|MESH:D044903|NCIT:C122923|ORPHA:657
MONDO:0022662	carpo tarsal osteolysis recessive	biolink:Disease	mondo	GARD:0001129	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022662		
HGNC:17340	PRPF8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17340		
MONDO:0007029	branchio-oto-renal syndrome	biolink:Disease	mondo	UMLS:C0265234|Orphanet:107|Wikipedia:Branchio-oto-renal_syndrome|DOID:14702|NCIT:C98983|ICD10:Q87.8|EFO:1001251|ICD9:759.89|MedDRA:10071135|MESH:D019280|SCTID:290006|GARD:0010147|UMLS:CN043574	ordo_malformation_syndrome	Melnick-Fraser syndrome|Branchio oto renal syndrome|Branchio-Oto-renal syndrome|branchiootorenal syndrome|branchiootorenal dysplasia|Branchio-otorenal dysplasia|bor syndrome	http://purl.obolibrary.org/obo/MONDO_0007029	Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).	UMLS:C0265234|ORPHA:107|SNOMEDCT:290006|UMLS:CN043574|MESH:D019280|DOID:14702|NCIT:C98983|MEDDRA:10071135
MONDO:0022666	cassavism	biolink:Disease	mondo	GARD:0010442	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022666		
HGNC:20997	ZMYND15	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/20997		
MONDO:0020005	obsolete rare endocrine disease	biolink:Disease	mondo	Orphanet:97978|UMLS:CN206938	obsoletion_candidate|ordo_group_of_disorders	rare endocrine system disease	http://purl.obolibrary.org/obo/MONDO_0020005	Rare endocrine system disease.	UMLS:CN206938|ORPHA:97978
MONDO:0007027	non-alcoholic steatohepatitis	biolink:Disease	mondo	ICD10:K75.81|DOID:0080547|NCIT:C84445|MedDRA:10053219|EFO:1001249		nonalcoholic Steatohepatitis|nash - nonalcoholic Steatohepatitis	http://purl.obolibrary.org/obo/MONDO_0007027	Fatty replacement and damage to the hepatocytes not related to alcohol use. It may lead to cirrhosis and liver failure.	DOID:0080547|NCIT:C84445
MONDO:0010679	Duchenne muscular dystrophy	biolink:Disease	mondo	MESH:D020388|SCTID:76670001|MedDRA:10013801|OMIM:310200|UMLS:C0013264|Orphanet:98896|NCIT:C75482|GARD:0006291|DOID:11723|ICD10:G71.0	ordo_disease|gard_rare	muscular dystrophy, Duchenne type; DMD|DMD|muscular dystrophy, Duchenne|muscular dystrophy, pseudohypertrophic progressive, Duchenne type|muscular dystrophy, Duchenne type|Duchenne muscular dystrophy|severe dystrophinopathy, Duchenne type	http://purl.obolibrary.org/obo/MONDO_0010679	Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.	DOID:11723|MESH:D020388|MEDDRA:10013801|SNOMEDCT:76670001|http://identifiers.org/omim/310200|UMLS:C0013264|ORPHA:98896|NCIT:C75482
MONDO:0020004	obsolete rare eye disease	biolink:Disease	mondo	Orphanet:97966|UMLS:CN206937	obsoletion_candidate|ordo_group_of_disorders	rare eye disease	http://purl.obolibrary.org/obo/MONDO_0020004	Rare eye disease.	UMLS:CN206937|ORPHA:97966
MONDO:0009689	congenital myasthenic syndrome 6	biolink:Disease	mondo	NCIT:C132292|ICD9:358.00|OMIM:254210|GARD:0009689|DOID:0110671|MESH:C535759|UMLS:C0393929|SCTID:230670003	gard_rare	congenital myasthenic syndrome caused by mutation in CHAT|FIM, formerly|congenital myasthenic syndrome type Ia2, formerly|myasthenic syndrome, congenital, 6, presynaptic; CMS6|CMS1A2|CMS1A2, formerly|CMS1A|familial infantile myasthenia|myasthenia, familial infantile, formerly|congenital myasthenic syndrome type 6|myasthenia gravis, familial infantile, 2|CMS-ea|myasthenic syndrome, presynaptic, congenital, associated with episodic apnea|CMS w/episodic apnea|myasthenia, familial infantile|FIMG2|FIMG2 (formerly)|myasthenic syndrome, congenital, 6, presynaptic|congenital presynaptic myasthenic syndrome associated with episodic apnea|CMSEA|myasthenia gravis familial infantile 2 (formerly)|presynaptic congenital myasthenic syndrome 6|myasthenic syndrome, congenital, associated with episodic apnea|Cms Ia2, formerly|familial infantile myasthenia gravis 2|FIMG2, formerly|CMS Ia2|Cms Ia2|CMS Ia2, formerly|congenital myasthenic syndrome 6, presynaptic|congenital myasthenic syndrome with episodic apnea|FIM|myasthenia familial infantile|CHAT congenital myasthenic syndrome|myasthenic syndrome congenital associated with episodic apnea|CMS6|congenital myasthenic syndrome type Ia2|congenital myasthenic syndrome type 1a|myasthenia gravis, familial infantile, 2, formerly|congenital myasthenic syndrome type Ia	http://purl.obolibrary.org/obo/MONDO_0009689	Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner.	NCIT:C132292|SNOMEDCT:230670003|http://identifiers.org/omim/254210|MESH:C535759|DOID:0110671|UMLS:C0393929
MONDO:0007028	rotator cuff syndrome	biolink:Disease	mondo	UMLS:C0263912|EFO:1001250|ICD9:726.10|ICD10:M75.1|https://en.wikipedia.org/wiki/Rotator_cuff_tear|SCTID:4106009		rotator cuff tear	http://purl.obolibrary.org/obo/MONDO_0007028	Tear of one or more of the tendons of the four rotator cuff muscles of the shoulder. A rotator cuff 'injury' can include any type of irritation or overuse of those muscles or tendons, and is among the most common conditions affecting the shoulder.	SNOMEDCT:4106009|UMLS:C0263912
MONDO:0010678	muscular dystrophy, progressive Pectorodorsal	biolink:Disease	mondo	MESH:C564095|UMLS:C1839669|OMIM:310095		muscular dystrophy, progressive Pectorodorsal|muscular dystrophy, progressive, involving shoulder girdle and back	http://purl.obolibrary.org/obo/MONDO_0010678		http://identifiers.org/omim/310095|MESH:C564095|UMLS:C1839669
GO:0042562	hormone binding	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0042562	Interacting selectively and non-covalently with any hormone, naturally occurring substances secreted by specialized cells that affect the metabolism or behavior of cells possessing functional receptors for the hormone. Hormones may be produced by the same, or different, cell as express the receptor.	
MONDO:0009688	myasthenia gravis	biolink:Disease	mondo	ICD10:G70.0|DOID:437|MESH:D009157|ICD10:G70.00|COHD:76685|EFO:0004991|SCTID:91637004|NCIT:C60989|UMLS:C0026896|OMIM:254200|GARD:0007122|MedDRA:10028417|Orphanet:589|ICD9:358.0|ICD9:358.00	gard_rare|ordo_disease	myasthenia gravis|myasthenia gravis; MG|autoimmune myasthenia gravis|MG|acquired myasthenia	http://purl.obolibrary.org/obo/MONDO_0009688	Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles.	ORPHA:589|http://identifiers.org/omim/254200|MEDDRA:10028417|NCIT:C60989|MESH:D009157|DOID:437|SNOMEDCT:91637004|UMLS:C0026896
MONDO:0020003	obsolete rare surgical cardiac disease	biolink:Disease	mondo	Orphanet:97965|UMLS:CN206936	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020003		UMLS:CN206936|ORPHA:97965
MONDO:0007025	chancre	biolink:Disease	mondo	MESH:D002601|EFO:1001247			http://purl.obolibrary.org/obo/MONDO_0007025	The primary sore of syphilis, a painless indurated, eroded papule, occurring at the site of entry of the infection.	MESH:D002601
HGNC:29326	SLC7A14	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29326		
MONDO:0009687	myasthenia, congenital, refractory to acetylcholinesterase inhibitors	biolink:Disease	mondo	UMLS:C1850806|OMIM:254190|MESH:C564979		myasthenia, congenital, refractory to acetylcholinesterase inhibitors	http://purl.obolibrary.org/obo/MONDO_0009687		http://identifiers.org/omim/254190|MESH:C564979|UMLS:C1850806
MONDO:0020002	obsolete rare surgical thoracic disease	biolink:Disease	mondo	Orphanet:97962|UMLS:CN206935	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020002		ORPHA:97962|UMLS:CN206935
MONDO:0007026	obsolete non-alcoholic fatty liver	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0007026		
MONDO:0009686	musk, inability to smell	biolink:Disease	mondo	MESH:C564980|OMIM:254150|UMLS:C1850807		musk, inability to smell	http://purl.obolibrary.org/obo/MONDO_0009686		http://identifiers.org/omim/254150|MESH:C564980|UMLS:C1850807
MONDO:0007023	Yersinia infectious disease	biolink:Disease	mondo	MESH:D015009|NCIT:C128337|SCTID:83436008|EFO:1001245		infections, Yersinia <bacteria>|infections, Yersinia|Yersinia infection|Yersinia <bacteria> infection|yersiniosis|infection, Yersinia	http://purl.obolibrary.org/obo/MONDO_0007023	Infections with bacteria of the genus yersinia.	SNOMEDCT:83436008|MESH:D015009|NCIT:C128337
MONDO:0020001	respiratory or thoracic malformation	biolink:Disease	mondo	Orphanet:97957	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020001		ORPHA:97957
MONDO:0009685	Miyoshi myopathy	biolink:Disease	mondo	DOID:0070198|Orphanet:45448|GARD:0009676|MESH:C537480|ICD10:G71.0|NCIT:C118846|OMIMPS:254130	gard_rare|ordo_disease|prototype_pattern	Miyoshi muscular dystrophy|muscular dystrophy, distal, late onset, autosomal recessive|MMD1|MM|Miyoshi distal myopathy|Miyoshi muscular dystrophy type 1|Miyoshi muscular dystrophy 1	http://purl.obolibrary.org/obo/MONDO_0009685	Miyoshi myopathy (MM) is a distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes.	DOID:0070198|ORPHA:45448|NCIT:C118846|MESH:C537480
MONDO:0007024	Yersinia pseudotuberculosis infectious disease	biolink:Disease	mondo	SCTID:36753006|UMLS:C0043410|MESH:D015012|EFO:1001246		infection by Yersinia pseudotuberculosis|Pasteurella Pseudotuberculoses|pseudotuberculosis, Pasteurella|infections, Yersinia pseudotuberculosis|pseudotuberculosis|Pasteurella pseudotuberculosis|Pseudotuberculoses, Pasteurella|infection by Pasteurella pseudotuberculosis	http://purl.obolibrary.org/obo/MONDO_0007024	Infections with bacteria of the species yersinia pseudotuberculosis.	SNOMEDCT:36753006|MESH:D015012|UMLS:C0043410
MONDO:0020000	obsolete rare respiratory disease	biolink:Disease	mondo	Orphanet:97955|UMLS:CN206934	obsoletion_candidate|ordo_group_of_disorders	rare respiratory system disease	http://purl.obolibrary.org/obo/MONDO_0020000	Rare respiratory system disease.	ORPHA:97955|UMLS:CN206934
MONDO:0009684	muscular hypertonia, lethal	biolink:Disease	mondo	UMLS:C1850827|MESH:C564982|OMIM:254120		muscular hypertonia, lethal	http://purl.obolibrary.org/obo/MONDO_0009684		http://identifiers.org/omim/254120|MESH:C564982|UMLS:C1850827
MONDO:0007021	wheat allergic disease	biolink:Disease	mondo	ICD9:995.3|MESH:D021182|SCTID:420174000|UMLS:C0949570|DOID:3660|EFO:1001243		wheat based food product allergic disease|wheat allergic reaction|allergic disease from wheat based food product|allergy of wheat based food product|allergy to wheat|wheat allergy	http://purl.obolibrary.org/obo/MONDO_0007021	Allergic reaction to wheat that is triggered by the immune system.	DOID:3660|MESH:D021182|SNOMEDCT:420174000|UMLS:C0949570
MONDO:0009683	autosomal recessive limb-girdle muscular dystrophy type 2H	biolink:Disease	mondo	ICD10:G71.0|GARD:0003844|UMLS:C0270968|Orphanet:1878|OMIM:254110|DOID:0110282|MESH:C535897|SCTID:43226001|ICD9:359.89	ordo_disease	muscular dystrophy limb-girdle type 2H|limb-girdle muscular dystrophy type 2H|muscular dystrophy Hutterite type|muscular dystrophy, limb-girdle, type 2H; LGMD2H|autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRIM32|sarcotubular myopathy|muscular dystrophy, limb-girdle, type 2H|LGMD2H|muscular dystrophy, Hutterite type|TRIM32 autosomal recessive limb-girdle muscular dystrophy|limb-girdle muscular dystrophy due to TRIM32 deficiency|Sarcotubular myopathy	http://purl.obolibrary.org/obo/MONDO_0009683	Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.	http://identifiers.org/omim/254110|MESH:C535897|SNOMEDCT:43226001|UMLS:C0270968|ORPHA:1878|DOID:0110282
MONDO:0007022	xanthogranulomatous pyelonephritis	biolink:Disease	mondo	UMLS:C0034188|GARD:0012021|MESH:D011705|NCIT:C123038|ICD9:582.89|MedDRA:10074389|SCTID:38898003|EFO:1001244|DOID:11401		xanthogranulomatous pyelonephritis	http://purl.obolibrary.org/obo/MONDO_0007022	Chronic, destructive infection of the kidney characterized by lipid-laden macrophages in the setting of obstruction secondary to infected renal stones, most commonly caused by Proteus or Escherichia coli.	MESH:D011705|SNOMEDCT:38898003|UMLS:C0034188|DOID:11401|NCIT:C123038
MONDO:0009682	muscular dystrophy, congenital, with rapid progression	biolink:Disease	mondo	UMLS:C1850840|OMIM:254100|MESH:C564983		muscular dystrophy, congenital, with rapid progression	http://purl.obolibrary.org/obo/MONDO_0009682		http://identifiers.org/omim/254100|MESH:C564983|UMLS:C1850840
MONDO:0010682	myoclonic epilepsy, progressive, X-linked	biolink:Disease	mondo	OMIM:310370		myoclonic epilepsy, progressive	http://purl.obolibrary.org/obo/MONDO_0010682		http://identifiers.org/omim/310370
HGNC:2197	COL1A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2197		
MONDO:0007020	Wernicke encephalopathy	biolink:Disease	mondo	DOID:2384|EFO:1001241|UMLS:C0043121|ICD9:265.1|SCTID:21007002|MESH:D014899|ICD10:E51.2		Wernicke's encephalopathy|Wernicke's disease	http://purl.obolibrary.org/obo/MONDO_0007020	An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. thiamine deficiency and chronic alcoholism are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to korsakoff syndrome. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3)	DOID:2384|UMLS:C0043121|SNOMEDCT:21007002|MESH:D014899
MONDO:0009681	Ullrich congenital muscular dystrophy 1	biolink:Disease	mondo	OMIM:254090|UMLS:CN033863		Ullrich disease|Ullrich Scleroatonic muscular dystrophy|UCMD1|Ullrich congenital muscular dystrophy 1; UCMD1|Ullrich congenital muscular dystrophy|Ullrich congenital muscular dystrophy 1|Ullrich congenital muscular dystrophy type 1|muscular dystrophy, Scleroatonic	http://purl.obolibrary.org/obo/MONDO_0009681		UMLS:CN033863|http://identifiers.org/omim/254090
MONDO:0010681	myelolymphatic insufficiency	biolink:Disease	mondo	OMIM:310350|UMLS:C1839650		Myelolymphatic insufficiency|Pelger-like anomaly with leukopenia and susceptibility to infections	http://purl.obolibrary.org/obo/MONDO_0010681		http://identifiers.org/omim/310350|UMLS:C1839650
MONDO:0009680	congenital muscular dystrophy-infantile cataract-hypogonadism syndrome	biolink:Disease	mondo	UMLS:C1850864|Orphanet:1875|OMIM:254000|GARD:0000835|UMLS:C2931578|GARD:0003842	gard_rare|ordo_disease	muscular dystrophy, congenital, with infantile cataract and hypogonadism|Bassoe syndrome|benign muscular dystrophy with hypergonadotrophic hypogonadism and congenital cataract|muscular dystrophy, congenital, infantile with cataract and hypogonadism|familial congenital muscular dystrophy with gonadal dysgenesis	http://purl.obolibrary.org/obo/MONDO_0009680	Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive.	UMLS:C2931578|UMLS:C1850864|ORPHA:1875|http://identifiers.org/omim/254000
MONDO:0010684	X-linked myopathy with excessive autophagy	biolink:Disease	mondo	OMIM:310440|UMLS:C2931230|Orphanet:25980|DOID:0050760|MESH:C536522|GARD:0003892|UMLS:C1839615|ICD10:G71.8|SCTID:719815005	gard_rare|ordo_disease	MEAX|XMEA|vacuolar myopathy|myopathy, X-linked, with excessive autophagy|myopathy, X-linked, with excessive autophagy; MEAX	http://purl.obolibrary.org/obo/MONDO_0010684	X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings.	http://identifiers.org/omim/310440|UMLS:C1839615|DOID:0050760|MESH:C536522|UMLS:C2931230|ORPHA:25980|SNOMEDCT:719815005
HGNC:2195	COL18A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2195		
MONDO:0010683	X-linked centronuclear myopathy	biolink:Disease	mondo	GARD:0011925|Orphanet:596|UMLS:C0410203|SCTID:46804001|ICD10:G71.2|NCIT:C118781|DOID:0111225|OMIM:310400	ordo_disease	CNMX|MTM|myotubular myopathy, X-linked|myotubular myopathy 1|X-linked myotubular myopathy|myopathy, centronuclear, X-linked; CNMX|centronuclear myopathy, X-linked|XLMTM|myopathy, centronuclear, X-linked|XLCNM	http://purl.obolibrary.org/obo/MONDO_0010683	X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.	NCIT:C118781|UMLS:C0410203|MESH:C538647|http://identifiers.org/omim/310400|DOID:0111225|ORPHA:596|SNOMEDCT:46804001
HGNC:2194	COL17A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2194		
MONDO:0010686	N syndrome	biolink:Disease	mondo	MESH:C536108|SCTID:723410002|DOID:0050769|GARD:0003902|ICD10:Q87.8|UMLS:C2936859|OMIM:310465|Orphanet:2608	ordo_malformation_syndrome|gard_rare	N syndrome|NSX|N syndrome; NSX|intellectual disability, malformations, chromosome breakage, and development of T-cell leukemia|mental retardation, malformations, chromosome breakage, and development of T-cell leukemia	http://purl.obolibrary.org/obo/MONDO_0010686	N syndrome is characterised by intellectual deficit, deafness, ocular anomalies, T-cell leukaemia, cryptorchidism, hypospadias and spasticity.	ORPHA:2608|UMLS:C2936859|http://identifiers.org/omim/310465|MESH:C536108|DOID:0050769|SNOMEDCT:723410002
MONDO:0010685	MYP1	biolink:Disease	mondo	MESH:C564091|UMLS:C1839612|OMIM:310460		MYP1|myopia 1, X-linked; MYP1|myopia 1, X-linked	http://purl.obolibrary.org/obo/MONDO_0010685		http://identifiers.org/omim/310460|MESH:C564091|UMLS:C1839612
MONDO:0019019	osteogenesis imperfecta	biolink:Disease	mondo	GARD:0001017|OMIMPS:166200|Orphanet:666|COHD:78257|DOID:12347|NCIT:C26837|ICD10:Q78.0|MESH:D010013|UMLS:C0029434|MedDRA:10031243|ICD9:756.51|SCTID:78314001	gard_rare|ordo_disease	Porak and Durante disease|Vrolik disease|Osteopsathyrosis|Lobstein's syndrome|Fragilitas ossium|OI|Lobstein disease|Vrolik's disease|brittle bone disease|glass bone disease	http://purl.obolibrary.org/obo/MONDO_0019019	Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity.	ORPHA:666|MESH:D010013|DOID:12347|MEDDRA:10031243|UMLS:C0029434|SNOMEDCT:78314001|NCIT:C26837
HGNC:17349	PRPF4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17349		
MONDO:0010688	hereditary sensory neuropathy X-linked	biolink:Disease	mondo	UMLS:C1839602|OMIM:310470|MESH:C564090|DOID:0070159		neuropathy, hereditary sensory, X-linked	http://purl.obolibrary.org/obo/MONDO_0010688	A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life.	DOID:0070159|http://identifiers.org/omim/310470|UMLS:C1839602|MESH:C564090
MONDO:0010687	nephrolithiasis, X-linked recessive, with renal failure	biolink:Disease	mondo	OMIM:310468|SCTID:236713006|MESH:C562901		urolithiasis, X-linked recessive, type 1|nephrolithiasis, X-linked recessive, with renal failure|XRN|nephrolithiasis, X-linked recessive, type 1|nephrolithiasis 1|nephrolithiasis, X-linked recessive, with renal failure; XRN	http://purl.obolibrary.org/obo/MONDO_0010687		MESH:C562901|SNOMEDCT:236713006|http://identifiers.org/omim/310468
HGNC:2190	COL13A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2190		
MONDO:0019016	maternally-inherited progressive external ophthalmoplegia	biolink:Disease	mondo	Orphanet:663|UMLS:CN924917|ICD10:H49.4	ordo_disease	maternally-inherited chronic progressive external ophthalmoplegia|maternally-inherited CPEO	http://purl.obolibrary.org/obo/MONDO_0019016		ORPHA:663|UMLS:CN924917
MONDO:0019015	omphalocele (disease)	biolink:Disease	mondo	MedDRA:10030308|HP:0001539|ICD10:Q79.2|UMLS:C0795690|Orphanet:660|DOID:0060327|ICD9:756.72|NCIT:C98997|SCTID:18735004	ordo_morphological_anomaly	omphalocoele|exomphalos|omphalocele|eventration|congenital omphalocele	http://purl.obolibrary.org/obo/MONDO_0019015	Omphalocele is an embryopathy classified in the group of abdominal celosomias and is characterized by a large hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac.	ORPHA:660|DOID:0060327|MEDDRA:10030308|NCIT:C98997|SNOMEDCT:18735004|UMLS:C0795690
MONDO:0019018	Tako-tsubo cardiomyopathy	biolink:Disease	mondo	ICD10:I42.8|UMLS:CN205479|NCIT:C85181|EFO:1002000|MESH:D054549|GARD:0009400|ICD9:429.83|COHD:40479589|UMLS:C1739395|SCTID:441541008|Orphanet:66529	ordo_disease	ampulla cardiomyopathy|broken heart syndrome|transient left ventricular apical ballooning syndrome|left ventricular transient apical ballooning|Takotsubo cardiomyopathy|Tako tsubo syndrome|ballooning cardiomyopathy|stress cardiomyopathy|apical ballooning syndrome|Takotsubo syndrome|transient antero-apical dyskinesia|acute stress cardiomyopathy|stress-induced cardiomyopathy|ASC|broken-heart syndrome|Tako-Tsubo syndrome	http://purl.obolibrary.org/obo/MONDO_0019018	Takotsubo cardiomyopathy (TC) is a recently described acute cardiac syndrome that mimics acute myocardial infarction and is characterized by ischemic chest symptoms, an elevated ST segment on electrocardiogram, and elevated levels of cardiac disease markers.	MESH:D054549|SNOMEDCT:441541008|NCIT:C85181|ORPHA:66529|UMLS:CN205479|UMLS:C1739395
HGNC:17348	PRPF3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17348		
MONDO:0019017	short fifth metacarpals-insulin resistance syndrome	biolink:Disease	mondo	UMLS:CN205478|ICD10:E13|Orphanet:66518	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019017	Short fifth metacarpals-insulin resistance syndrome is characterised by bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant.	ORPHA:66518|UMLS:CN205478
MONDO:0019012	Carpenter syndrome	biolink:Disease	mondo	GARD:0006003|SCTID:403767009|UMLS:CN229565|NCIT:C98873|UMLS:C1275078|Orphanet:65759|ICD10:Q87.0|OMIMPS:201000|DOID:0060234	ordo_malformation_syndrome	acrocephalopolysyndactyly type 2|Carpenter syndrome|Carpenter 's syndrome|acrocephalosyndactyly, type II|type II Acrocephalopolysyndactyly|acrocephalopolysyndactyly type II|ACPS2	http://purl.obolibrary.org/obo/MONDO_0019012	An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation.	DOID:0060234|UMLS:C1275078|NCIT:C98873|ORPHA:65759|UMLS:CN229565|SNOMEDCT:403767009
HGNC:17342	BRWD3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17342		
MONDO:0019011	Charcot-Marie-Tooth disease type 1	biolink:Disease	mondo	Orphanet:65753|ICD10:G60.0|DOID:0050538|GARD:0012433|SCTID:398040009	ordo_group_of_disorders	autosomal dominant demyelinating Charcot-Marie-Tooth disease|Charcot-Marie-Tooth neuropathy type 1|hereditary motor and sensory neuropathy type 1|Charcot-Marie-Tooth type 1|CMT1	http://purl.obolibrary.org/obo/MONDO_0019011	Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity.	ORPHA:65753|SNOMEDCT:398040009|DOID:0050538
HGNC:17341	TRNT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17341		
MONDO:0019014	mutilating palmoplantar keratoderma with periorificial keratotic plaques	biolink:Disease	mondo	Orphanet:659|OMIM:614594|UMLS:C2609071|GARD:0004075|ICD10:Q82.8|MedDRA:10068842	gard_rare|ordo_disease	Olmsted syndrome|palmoplantar and periorificial keratoderma|mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques|palmoplantar keratoderma, mutilating, with periorificial keratotic plaques	http://purl.obolibrary.org/obo/MONDO_0019014	Mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques (also known as Olmsted syndrome) is a hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.	ORPHA:659|UMLS:C2609071|MEDDRA:10068842|http://identifiers.org/omim/614594
MONDO:0010680	X-linked Emery-Dreifuss muscular dystrophy	biolink:Disease	mondo	NCIT:C168730|Orphanet:98863|GARD:0002102|DOID:0070246|UMLS:CN069573|OMIM:310300|ICD10:G71.0|UMLS:C0751337	ordo_etiological_subtype	EMERY-Dreifuss muscular dystrophy 1, X-linked; EDMD1|Humeroperoneal neuromuscular disease, formerly|Emery-Dreifuss muscular dystrophy 1, X-linked|Humeroperoneal neuromuscular disease|Emery-Dreifuss muscular dystrophy, X-linked|scapuloperoneal syndrome, X-linked|Emerinopathy|EDMD1|scapuloperoneal syndrome, X-linked, formerly|humeroperoneal neuromuscular disease|muscular dystrophy, tardive, Dreifuss-Emery type, with contractures|muscular dystrophy, tardive Emery-Dreifuss type, with contractures|EMD1|EMERY-Dreifuss muscular dystrophy 1, X-linked	http://purl.obolibrary.org/obo/MONDO_0010680	X-linked form of Emery-Dreifuss muscular dystrophy.	http://identifiers.org/omim/310300|UMLS:CN069573|UMLS:C0751337|ORPHA:98863|NCIT:C168730|DOID:0070246
MONDO:0019013	non-histaminic angioedema	biolink:Disease	mondo	UMLS:CN227560|ICD9:995.1|Orphanet:658|SCTID:41291007	ordo_group_of_disorders	angioneurotic edema|non histamine-induced angioedema|bradykinine-induced angioedema	http://purl.obolibrary.org/obo/MONDO_0019013	Angioedema is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.	SNOMEDCT:41291007|UMLS:CN227560|ORPHA:658
HGNC:2198	COL1A2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2198		
MONDO:0022650	cardiomyopathy diabetes deafness	biolink:Disease	mondo	GARD:0001103	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022650		
MONDO:0022651	obsolete cardiomyopathy dilated with conduction defect type 1	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0022651		
MONDO:0022652	obsolete cardiomyopathy dilated with conduction defect type 2	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0022652		
MONDO:0022653	cardiomyopathy due to anthracyclines	biolink:Disease	mondo	GARD:0001107	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022653		
MONDO:0022654	cardiomyopathy hypogonadism collagenoma syndrome	biolink:Disease	mondo	MESH:C535582		cardiomyopathy-hypogonadism-collagenoma syndrome	http://purl.obolibrary.org/obo/MONDO_0022654		MESH:C535582
MONDO:0022655	cardiomyopathy hypogonadism metabolic anomalies	biolink:Disease	mondo	GARD:0001109	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022655		
HGNC:30304	RGS9BP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30304		
MONDO:0022656	cardiomyopathy spherocytosis	biolink:Disease	mondo	GARD:0001110	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022656		
MONDO:0010668	skeletal dysplasia-intellectual disability syndrome	biolink:Disease	mondo	GARD:0003520|SCTID:722478008|Orphanet:1436|ICD10:Q87.5|MESH:C564101|OMIM:309620|UMLS:C1839729	ordo_malformation_syndrome|gard_rare	intellectual disability, skeletal dysplasia, and abducens palsy; MRSD|intellectual disability, skeletal dysplasia, and abducens palsy|mental retardation, skeletal dysplasia, and abducens palsy|X-linked skeletal dysplasia-intellectual disability syndrome|mental retardation, skeletal dysplasia, and abducens palsy; MRSD|MRSD|Christian syndrome|intellectual disability skeletal dysplasia abducens palsy|mental retardation skeletal dysplasia abducens palsy	http://purl.obolibrary.org/obo/MONDO_0010668	Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked.	http://identifiers.org/omim/309620|ORPHA:1436|MESH:C564101|SNOMEDCT:722478008|UMLS:C1839729
MONDO:0007038	Achoo syndrome	biolink:Disease	mondo	GARD:0010036|EFO:0007887|MESH:C535300|OMIM:100820|UMLS:C1863416		Peroutka sneeze|Achoo syndrome|autosomal dominant compelling Helioophthalmic outburst syndrome|photic sneeze reflex|sneezing from Light exposure|autosomal dominant compelling helio ophthalmic outburst syndrome	http://purl.obolibrary.org/obo/MONDO_0007038		MESH:C535300|UMLS:C1863416|http://identifiers.org/omim/100820
MONDO:0010667	Prieto syndrome	biolink:Disease	mondo	DOID:0060805|MESH:C535274|GARD:0004482|SCTID:719140001|Orphanet:2958|OMIM:309610|NCIT:C18058	ordo_malformation_syndrome	Prieto X-linked mental retardation syndrome; PRS|X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome|Prieto-Badia-Mulas syndrome|intellectual disability, X-linked, syndromic 2|mental retardation, X-linked, syndromic 2|Prieto X-linked intellectual disability syndrome; PRS|Prieto X-linked intellectual disability syndrome|intellectual disability, X-linked, with Dysmorphism and cerebral atrophy|PRS|MRXS2|mental retardation, X-linked, with Dysmorphism and cerebral atrophy|Prieto X-linked mental retardation syndrome	http://purl.obolibrary.org/obo/MONDO_0010667	This syndrome is characterised by intellectual deficit associated with facial dysmorphism, patella luxation, and abnormal growth of the teeth.	DOID:0060805|http://identifiers.org/omim/309610|NCIT:C18058|ORPHA:2958|MESH:C535274|SNOMEDCT:719140001
MONDO:0007039	neurofibromatosis type 2	biolink:Disease	mondo	NCIT:C3274|ICD9:237.72|ICD10:Q85.02|GARD:0007193|Orphanet:637|UMLS:C0027832|COHD:380975|SCTID:92503002|MedDRA:10000523|MedDRA:10029271|OMIM:101000|DOID:0111252|ICD10:Q85.0	clingen|ordo_disease	neurofibromatosis central type|acoustic Schwannomas, bilateral|neurofibromatosis, central type|acoustic neurofibromatosis|acoustic schwannomas bilateral|neurofibromatosis type 2|NF2|neurofibromatosis 2|central neurofibromatosis|neurofibromatosis type II|neurofibromatosis, type II; NF2|neurofibromatosis, type II|acoustic neurinoma, bilateral|neurofibromatosis, type 2|acoustic neurinoma bilateral|bilateral acoustic neurofibromatosis	http://purl.obolibrary.org/obo/MONDO_0007039	Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.	DOID:0111252|MEDDRA:10029271|ORPHA:637|SNOMEDCT:92503002|NCIT:C3274|MESH:D016518|MEDDRA:10000523|http://identifiers.org/omim/101000|MESH:D009464|UMLS:C0027832|UMLS:C0027859
MONDO:0007036	Achard syndrome	biolink:Disease	mondo	UMLS:C1332135|DOID:6686|MESH:C536012|OMIM:100700|GARD:0008176|NCIT:C35809	gard_rare	Achard syndrome|arachnodactyly, receding lower jaw and joint laxity of hands/feet	http://purl.obolibrary.org/obo/MONDO_0007036	A rare genetic syndrome featuring connective tissue abnormalities. Clinical signs include brachycephaly, arachnodactyly, receding mandible and joint laxity at the hands and feet.	UMLS:C1332135|DOID:6686|http://identifiers.org/omim/100700|MESH:C536012|NCIT:C35809
MONDO:0009699	action myoclonus-renal failure syndrome	biolink:Disease	mondo	SCTID:764453009|Orphanet:163696|OMIM:254900	ordo_disease	myoclonus-nephropathy syndrome|progressive myoclonic epilepsy type 4|EPM4|myoclonus-nephropathy syndrome|epilepsy, progressive myoclonic, 4, with or without renal failure|epilepsy, progressive myoclonic, 4, with or without renal failure; EPM4|AMRF|action myoclonus-renal failure syndrome	http://purl.obolibrary.org/obo/MONDO_0009699	Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.	ORPHA:163696|SNOMEDCT:764453009|http://identifiers.org/omim/254900
MONDO:0009698	Unverricht-Lundborg syndrome	biolink:Disease	mondo	GARD:0003876|UMLS:C0751785|ICD10:G40.3|MESH:D020194|SCTID:230423006|MedDRA:10054895|DOID:3535|Orphanet:308|OMIM:254800	ordo_malformation_syndrome	PME type 1|progressive myoclonic epilepsy|Unverricht's disease|Unverricht - Lundborg disease|progressive myoclonus epilepsy Baltic myoclonic epilepsy|Uld|progressive myoclonus epilepsy type 1|EPM1|epilepsy, progressive myoclonus 1|myoclonic epilepsy of Unverricht and Lundborg|Baltic myoclonic epilepsy|Unverricht-Lundborg disease|progressive myoclonic epilepsy type 1|epilepsy, progressive myoclonic type 1|epilepsy, progressive myoclonic, 1A|myoclonus progressive epilepsy of Unverricht and Lundborg|epilepsy, progressive myoclonic, 1|ULD	http://purl.obolibrary.org/obo/MONDO_0009698	Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.	UMLS:C0751785|DOID:3535|SNOMEDCT:230423006|http://identifiers.org/omim/254800|MESH:D020194|MEDDRA:10054895|ORPHA:308
MONDO:0007037	achondroplasia	biolink:Disease	mondo	COHD:4311402|MESH:D000130|OMIM:100800|DOID:4480|UMLS:C0001080|MedDRA:10000452|Orphanet:15|GARD:0008173|SCTID:86268005|NCIT:C34345|ICD10:Q77.4	gard_rare|clingen|ordo_disease	ach|achondroplasia|achondroplasia; ach|achondroplastic physique|osteosclerosis congenita|achondroplastic dwarfism|chondrodystrophia	http://purl.obolibrary.org/obo/MONDO_0007037	Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.	SNOMEDCT:86268005|ORPHA:15|MEDDRA:10000452|UMLS:C0001080|MESH:D000130|http://identifiers.org/omim/100800|NCIT:C34345|DOID:4480
MONDO:0010669	syndactyly type 8	biolink:Disease	mondo	UMLS:C1839728|OMIM:309630|GARD:0003559|ICD10:Q70.0|SCTID:715442006|Orphanet:2498|MESH:C564100	gard_rare|ordo_morphological_anomaly	MF4|metacarpal 4-5 fusion; MF4|fusion of metacarpals 4 and 5|metacarpal 4-5 fusion|FGF16 non-syndromic syndactyly|non-syndromic syndactyly caused by mutation in FGF16|metacarpals 4 and 5 fusion	http://purl.obolibrary.org/obo/MONDO_0010669	Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers.	http://identifiers.org/omim/309630|SNOMEDCT:715442006|ORPHA:2498|UMLS:C1839728|MESH:C564100
MONDO:0009697	Lafora disease	biolink:Disease	mondo	ICD10:G40.3|GARD:0008214|NCIT:C84804|OMIM:254780|Orphanet:501|UMLS:C0751783|MESH:D020192|SCTID:230425004|DOID:3534|MedDRA:10054030	ordo_disease|gard_rare	EPM2|Lafora progressive myoclonic epilepsy|progressive myoclonic epilepsy type 2|myoclonic epilepsy of Lafora|Lafora's disease|Melf|Lafora body disorder|epilepsy, progressive myoclonic, 2B|Lafora body disease|epilepsy, progressive myoclonic, 2A|Epm2|Lafora disease|PME type 2|progressive myoclonus epilepsy type 2|epilepsy progressive myoclonic 2	http://purl.obolibrary.org/obo/MONDO_0009697	Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.	UMLS:C0751783|DOID:3534|http://identifiers.org/omim/254780|MESH:D020192|MEDDRA:10054030|NCIT:C84804|ORPHA:501|SNOMEDCT:230425004
MONDO:0007034	Adams-Oliver syndrome	biolink:Disease	mondo	ICD9:759.89|ICD10:Q87.2|SCTID:34748004|UMLS:C0265268|GARD:0005739|MESH:C538225|DOID:0060227|OMIMPS:100300|Orphanet:974	ordo_malformation_syndrome|gard_rare	congenital scalp defects with distal limb anomalies|Adams Oliver syndrome|limb, scalp and skull defects|AOS|limb scalp and skull defects|congenital scalp defects with distal limb reduction anomalies	http://purl.obolibrary.org/obo/MONDO_0007034	Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.	ORPHA:974|DOID:0060227|MESH:C538225|UMLS:C0265268|SNOMEDCT:34748004
HGNC:29331	EPG5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29331		
MONDO:0007035	acanthosis nigricans (disease)	biolink:Disease	mondo	SCTID:402599005|NCIT:C26687|Wikipedia:Acanthosis_nigricans|ICD10:L83|DOID:3138|MESH:D000052|HP:0000956|UMLS:C0000889|EFO:1000660|COHD:4299544		acanthosis nigricans|an - acanthosis nigricans|keratosis nigricans	http://purl.obolibrary.org/obo/MONDO_0007035	A melanotic cutaneous lesion that develops in the axilla and other body folds. It may be idiopathic, drug-induced, or it may be associated with the presence of an endocrine disorder or malignancy.	NCIT:C26687|SNOMEDCT:402599005|MESH:D000052|UMLS:C0000889|DOID:3138
MONDO:0009696	juvenile myoclonic epilepsy	biolink:Disease	mondo	MESH:D020190|DOID:4890|Orphanet:307|EFO:0006572|ICD10:G40.3|NCIT:C84796|GARD:0006808|MedDRA:10071082|OMIMPS:254770|ICD9:345.10|SCTID:6204001|UMLS:C0270853	gard_rare|predisposition|ordo_disease	epilepsy, myoclonic juvenile|Petit Mal, impulsive|Janz syndrome|Janz syndrome|myoclonic epilepsy, juvenile, susceptibility to, 1|juvenile myoclonus epilepsy|myoclonic epilepsy, juvenile, 1|myoclonic epilepsy, juvenile|JME|EJM|epilepsy, myoclonic juvenile; EJM	http://purl.obolibrary.org/obo/MONDO_0009696	Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases).	http://identifiers.org/omim/254770|MESH:D020190|MEDDRA:10071082|NCIT:C84796|SNOMEDCT:6204001|UMLS:C0270853|ORPHA:307|DOID:4890
MONDO:0007032	prune belly syndrome	biolink:Disease	mondo	SCTID:5187006|ICD9:756.71|UMLS:C0033770|MedDRA:10051025|GARD:0007479|MESH:D011535|DOID:0060889|ICD10:Q79.4|NCIT:C85033|Orphanet:2970|OMIM:100100	ordo_malformation_syndrome	abdominal muscle deficiency syndrome|Obrisnksy syndrome|PBS|eagle-Barrett syndrome|abdominal muscles, absence of, with urinary tract Abnormality and cryptorchidism|prune belly syndrome|Obrinsky syndrome|triad syndrome|prune belly syndrome; PBS|syndrome of agenesis of abdominal muscles|eagle-Barret syndrome	http://purl.obolibrary.org/obo/MONDO_0007032	Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes.	NCIT:C85033|SNOMEDCT:5187006|DOID:0060889|UMLS:C0033770|http://identifiers.org/omim/100100|MEDDRA:10051025|UMLS:C0265363|ORPHA:2970|MESH:C536477|MESH:D011535
MONDO:0009695	myeloproliferative disease, autosomal recessive	biolink:Disease	mondo	OMIM:254700|UMLS:C1850779|MESH:C564977		myeloproliferative disease, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009695		MESH:C564977|http://identifiers.org/omim/254700|UMLS:C1850779
MONDO:0009694	myeloperoxidase deficiency	biolink:Disease	mondo	ICD9:288.8|SCTID:234433009|MESH:C562864|ICD10:E80.3|GARD:0003868|Orphanet:2587|UMLS:C0398595|OMIM:254600	ordo_disease|gard_rare	myeloperoxidase deficiency|myeloperoxidase deficiency; MPOD|MPOD|MPO deficiency	http://purl.obolibrary.org/obo/MONDO_0009694		http://identifiers.org/omim/254600|MESH:C562864|ORPHA:2587|SNOMEDCT:234433009|UMLS:C0398595
MONDO:0007033	abducens nerve palsy	biolink:Disease	mondo	OMIM:100200|ICD9:378.54|COHD:381572|SCTID:398963001|GARD:0009482|DOID:10865|ICD10:H49.2|NCIT:C27592		sixth or abducens nerve palsy|VIth nerve disorder|6th nerve palsy|disorder of abducent nerve|abducens nerve cranial nerve palsy|abducens nerve weakness|sixth nerve palsy|abducens nerve disease|cranial nerve VI palsy|abducent nerve paralysis|lateral rectus muscle denervation paresis|sixth cranial nerve disorder|cranial mononeuropathy VI|sixth cranial nerve disorder, NOS|VI nerve palsy|lateral rectus muscle innervation disorder|sixth nerve paralysis|VIth nerve paralysis|abducens nerve disorder|sixth cranial nerve palsy|cranial nerve palsy of abducens nerve|abducens palsy	http://purl.obolibrary.org/obo/MONDO_0007033	Paralysis of the abducens nerve.	NCIT:C27592|SNOMEDCT:398963001|DOID:10865|http://identifiers.org/omim/100200
GO:0042571	immunoglobulin complex, circulating	biolink:OntologyClass	mondo			antibody	http://purl.obolibrary.org/obo/GO_0042571	An immunoglobulin complex that is secreted into extracellular space and found in mucosal areas or other tissues or circulating in the blood or lymph. In its canonical form, a circulating immunoglobulin complex is composed of two identical heavy chains and two identical light chains, held together by disulfide bonds. Some forms of are polymers of the basic structure and contain additional components such as J-chain and the secretory component.	
MONDO:0009693	plasma cell myeloma	biolink:Disease	mondo	OMIM:254500|ICD10:C90.0|GARD:0007108|NCIT:C3242|COHD:437233|EFO:0001378|DOID:9538|UMLS:C0026764|MedDRA:10028228|ONCOTREE:PCM|ICDO:9732/3|ICD10:C90.00|MESH:D009101|Orphanet:29073|ICD9:203.0	ordo_disease	myeloma, plasma cell, malignant|plasma cell myeloma|medullary plasmacytoma|myeloid neoplasm of plasma cell|amyloidosis, systemic|myeloma, multiple|Al amyloidosis|plasma cell myeloid neoplasm|myelomatosis|Kahler's disease|Kahler disease|myeloma, NOS|multiple myeloma/plasma cell myeloma|myeloma - multiple|multiple myeloma|myeloma	http://purl.obolibrary.org/obo/MONDO_0009693	A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)	http://identifiers.org/omim/254500|DOID:9538|NCIT:C3242|ORPHA:29073|MESH:D009101|UMLS:C0026764|MEDDRA:10028228
MONDO:0007030	autosomal dominant Aarskog syndrome	biolink:Disease	mondo	OMIM:100050|DOID:6683|ICD10:Q87.1		Greig's syndrome|Aarskog syndrome, autosomal dominant|Aarskog-Scott syndrome|faciogenital dysplasia|Aarskog syndrome	http://purl.obolibrary.org/obo/MONDO_0007030		http://identifiers.org/omim/100050|DOID:6683
MONDO:0010671	microphthalmia, syndromic 1	biolink:Disease	mondo	SCTID:438504004|OMIM:309800|ICD9:759.89|MESH:C537464		Maa|Lenz microphthalmia syndrome|microphthalmia, syndromic 1; MCOPS1|Lenz dysplasia|microphthalmia, syndromic type 1|MCOPS1|microphthalmia, syndromic 1|Maa, formerly	http://purl.obolibrary.org/obo/MONDO_0010671		http://identifiers.org/omim/309800|SNOMEDCT:438504004|MESH:C537464
MONDO:0009692	primary myelofibrosis	biolink:Disease	mondo	Orphanet:824|ICDO:9961/3|OMIM:254450|UMLS:C2355576|ICD10:D75.81|MESH:D055728|ICD10:D47.4|ONCOTREE:PMF|UMLS:C0001815|UMLS:C0948968|ICD9:238.76|ICD9:289.83|COHD:133169|GARD:0008618|DOID:4971|EFO:0002430|NCIT:C2862	ordo_disease	myeloid metaplasia|Agnogenic myeloid metaplasia|idiopathic myelofibrosis|AMM|myelofibrosis with myeloid metaplasia|aleukemic myelosis|myelofibrosis|CIMF|myelosclerosis|megakaryocytic myelosclerosis|bone marrow fibrosis|myelosclerosis with myeloid metaplasia|idiopathic bone marrow fibrosis|chronic idiopathic myelofibrosis|osteomyelofibrosis|primary myelofibrosis	http://purl.obolibrary.org/obo/MONDO_0009692	Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension.	NCIT:C2862|UMLS:C0948968|MESH:D055728|UMLS:C0001815|ORPHA:824|DOID:4971|http://identifiers.org/omim/254450|UMLS:C2355576
MONDO:0007031	familial abdominal aortic aneurysm	biolink:Disease	mondo	Orphanet:86|SCTID:715364001|OMIMPS:100070|UMLS:C4275172|GARD:0009181|UMLS:CN206207|ICD10:I71.4	ordo_disease|prototype_pattern	hereditary abdominal aortic aneurysm|aortic aneurysm, familial abdominal	http://purl.obolibrary.org/obo/MONDO_0007031	An instance of abdominal aortic aneurysm that is caused by an inherited modification of the individual's genome.	ORPHA:86|UMLS:C4275172|SNOMEDCT:715364001|UMLS:CN206207
MONDO:0010670	X-linked intellectual disability-spastic quadriparesis syndrome	biolink:Disease	mondo	Orphanet:163982|UMLS:C1839727|OMIM:309640|MESH:C564099	ordo_disease	mental retardation with spastic paraplegia|intellectual disability with spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0010670		http://identifiers.org/omim/309640|UMLS:C1839727|MESH:C564099|ORPHA:163982
MONDO:0009691	mycosis fungoides	biolink:Disease	mondo	EFO:1001051|ONCOTREE:MYCF|SCTID:118618005|ICD9:202.1|ICD10:C84.00|DOID:8691|UMLS:C0026948|NCIT:C3246|Orphanet:2584|ICD10:C84.0|OMIM:254400|ICDO:9700/3|MESH:D009182|GARD:0003863|MedDRA:10028483|COHD:4040380	ordo_disease|gard_rare	mycosis fungoides lymphoma|mycosis fungoides of unspecified site|cutaneous T-cell lymphoma/mycosis fungoides|Alibert-Bazin syndrome|mycosis fungoides NOS (morphologic abnormality)|classic mycosis fungoides|mycosis fungoides, unspecified site, extranodal and solid organ sites|CTCL/ mycosis fungoides|mycosis fungoides (morphologic abnormality)|MF|mycosis fungoides, Alibert-Bazin type|mycosis fungoides|granuloma fungoides	http://purl.obolibrary.org/obo/MONDO_0009691	Classical mycosis fungoides is the most common type of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors.	NCIT:C3246|DOID:8691|SNOMEDCT:118618005|MESH:D009182|ORPHA:2584|UMLS:C0026948|http://identifiers.org/omim/254400
MONDO:0010673	modifier, X-linked, for Neurofunctional defects	biolink:Disease	mondo	UMLS:C1839708|MESH:C564098|OMIM:309840		Tourette syndrome, modifier of|modifier, X-linked, for Neurofunctional defects	http://purl.obolibrary.org/obo/MONDO_0010673		http://identifiers.org/omim/309840|UMLS:C1839708|MESH:C564098
MONDO:0009690	congenital myasthenic syndrome 10	biolink:Disease	mondo	SCTID:230687001|OMIM:254300|DOID:0110668|ICD9:358.00		familial limb-girdle myasthenia|congenital myasthenic syndrome type 10|myasthenic syndrome, congenital, type 10|myasthenia, limb-girdle, familial, formerly|CMS1B|myasthenia, limb-girdle, familial|Cms Ib, formerly|myasthenic syndrome, congenital, 10|DOK7 congenital myasthenic syndrome|congenital myasthenic syndrome type IB|congenital myasthenic syndrome type IB, formerly|CMS10|Cms Ib|myasthenic myopathy, formerly|LGM|myasthenic syndrome, congenital, 10; CMS10|congenital myasthenic syndrome caused by mutation in DOK7|myasthenic myopathy|CMS Ib	http://purl.obolibrary.org/obo/MONDO_0009690	Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the DOK7 gene.	SNOMEDCT:230687001|DOID:0110668|http://identifiers.org/omim/254300
MONDO:0010672	microphthalmia with linear skin defects syndrome	biolink:Disease	mondo	ICD10:Q11.2|GARD:0003659|SCTID:721879006|OMIMPS:309801|MESH:C537466|DC:0000705|Orphanet:2556	gard_rare|ordo_malformation_syndrome	MLS syndrome|microphthalmia dermal aplasia and sclerocornea syndrome|microphthalmia-dermal aplasia-sclerocornea syndrome|Micropthalmia syndromic 7|MIDAS syndrome|linear skin defects with multiple congenital anomalies|syndromic microphthalmia type 7|MCOPS7|linear skin defects with multiple congenital anomalies type 1|LSDMCA1|linear skin defects with multiple congenital anomalies 1	http://purl.obolibrary.org/obo/MONDO_0010672	Microphthalmia with linear skin defects syndrome (MLS syndrome) is a genetic condition that affects the eyes and skin. It is mainly found in females and is characterized by small or poorly developed eyes (microphthalmia) and characteristic linear skin markings on the head and neck. The signs and symptoms of this condition may include abnormalities of the brain, heart, and genitourinary system. Other symptoms may include short stature, developmental delay, and finger and toenails that do not grow normally (nail dystrophy). MLS syndrome is typically caused by either a deletion of certain genetic material on the p (short) arm of the X chromosome or by a mutation in the HCCS gene. In some cases, it may be caused by mutations in the COX7B and NDUFB11 genes, (also located on the X chromosome). According to the mutated gene, the disease may be classified in three subtypes. This condition is inherited in an X-linked manner and is thought to result in serious early developmental concerns in males, leading to almost no males with this condition surviving to delivery.Although there is no specific treatment or cure for MLS syndrome, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms.	ORPHA:2556|MESH:C537466|SNOMEDCT:721879006
MONDO:0019009	isolated focal cortical dysplasia	biolink:Disease	mondo	Orphanet:65683|ICD10:Q04.8|SCTID:766710005	ordo_disease	epilepsy due to FCD	http://purl.obolibrary.org/obo/MONDO_0019009	Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or grey matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated.	SNOMEDCT:766710005|ORPHA:65683
MONDO:0010675	muscular dystrophy, cardiac type	biolink:Disease	mondo	UMLS:C1442927|MESH:C563247|OMIM:309930		muscular dystrophy, cardiac type	http://purl.obolibrary.org/obo/MONDO_0010675		http://identifiers.org/omim/309930|UMLS:C1442927|MESH:C563247
GO:0042578	phosphoric ester hydrolase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0042578	Catalysis of the reaction: RPO-R' + H2O = RPOOH + R'H. This reaction is the hydrolysis of any phosphoric ester bond, any ester formed from orthophosphoric acid, O=P(OH)3.	
MONDO:0010674	mucopolysaccharidosis type 2	biolink:Disease	mondo	MedDRA:10056889|UMLS:C0026705|GARD:0006675|ICD10:E76.1|NCIT:C61260|MESH:D016532|OMIM:309900|Orphanet:580|SCTID:70737009|DOID:12799	ordo_disease	mucopolysaccharidosis II|sulfoiduronate sulfatase deficiency|mucopolysaccharidosis, MPS-II|Hunter's syndrome|MPS2|Hunter syndrome|attenuated MPS (subtype; formerly known as mild MPS II)|MPSII|mucopolysaccharidosis type II|mucopolysaccharidosis, type II|MPS II - Hunter syndrome|mucopolysaccharidosis, type II; MPS2|deficiency of iduronate-2-sulphatase|MPS II|Sids deficiency|mucopolysaccharidosis, type 2|I2S deficiency|iduronate 2-sulfatase deficiency|MPS 2|Ids deficiency|severe MPS II	http://purl.obolibrary.org/obo/MONDO_0010674	Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement.	MEDDRA:10056889|MESH:D016532|http://identifiers.org/omim/309900|SNOMEDCT:70737009|UMLS:C0026705|ORPHA:580|NCIT:C61260|UMLS:C2718304|DOID:12799
MONDO:0019008	benign recurrent intrahepatic cholestasis	biolink:Disease	mondo	ICD10:K83.1|DOID:0070230|GARD:0012185|SCTID:31155007|Orphanet:65682|UMLS:C0149841|OMIMPS:243300	ordo_disease|gard_rare	Bric|cholestasis, benign recurrent intrahepatic|Summerskill-Walshe-Tygstrup syndrome	http://purl.obolibrary.org/obo/MONDO_0019008	Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC).	SNOMEDCT:31155007|ORPHA:65682|DOID:0070230|UMLS:C0149841
MONDO:0010677	muscular dystrophy, Mabry type	biolink:Disease	mondo	MESH:C564096|UMLS:C1839670|OMIM:310000		muscular dystrophy, Mabry type	http://purl.obolibrary.org/obo/MONDO_0010677		http://identifiers.org/omim/310000|MESH:C564096|UMLS:C1839670
GO:0042579	microbody	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0042579	Cytoplasmic organelles, spherical or oval in shape, that are bounded by a single membrane and contain oxidative enzymes, especially those utilizing hydrogen peroxide (H2O2).	
MONDO:0010676	muscular dystrophy, Hemizygous lethal type	biolink:Disease	mondo	UMLS:C1839671|MESH:C564097|OMIM:309950		muscular dystrophy, Hemizygous lethal type	http://purl.obolibrary.org/obo/MONDO_0010676		http://identifiers.org/omim/309950|UMLS:C1839671|MESH:C564097
MONDO:0022646	cardiofacial syndrome short limbs	biolink:Disease	mondo	GARD:0001097	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022646		
MONDO:0019005	nephronophthisis (disease)	biolink:Disease	mondo	OMIMPS:256100|HP:0000090|DOID:12712|Orphanet:655|UMLS:C0687120|ICD10:Q61.5|NCIT:C123200|GARD:0000206|UMLS:C2939174	ordo_disease|gard_rare	medullary cystic disease|medullary cystic kidney|nephronophthisis	http://purl.obolibrary.org/obo/MONDO_0019005	Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure.	ORPHA:655|DOID:12712|UMLS:C2939174|NCIT:C123200|UMLS:C0687120
MONDO:0019004	kidney Wilms tumor	biolink:Disease	mondo	ICDO:8960/3|DOID:2154|Orphanet:654|MedDRA:10029145|ICD10:C64|DOID:5176|ONCOTREE:WT|UMLS:C0027708|SCTID:302849000|DC:0000457|NCIT:C40407	ordo_disease	embryonal nephroma|renal Wilms tumor|nephroblastoma, malignant|renal embryonic tumor|Wilms tumor of the kidney|childhood renal Wilms' cancer|adult nephroblastoma|renal Wilms' tumor|nonanaplastic renal Wilms tumor|kidney Wilms tumor|adult renal Wilms' tumor|Wilms' tumor of the kidney|Wilms tumor|childhood renal Wilms tumor|nephroblastoma|Nonanaplastic renal Wilm's tumor|Wilms' tumor	http://purl.obolibrary.org/obo/MONDO_0019004	An embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of Wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver.	ORPHA:654|MEDDRA:10029145|DOID:2154|SNOMEDCT:302849000|NCIT:C40407|UMLS:C0027708|DOID:5176
MONDO:0022647	cardiomelic syndrome stratton Koehler type	biolink:Disease	mondo	GARD:0001099	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022647		
MONDO:0022648	cardiomyopathy and deafness due to tRNA lysine gene mutation	biolink:Disease	mondo	GTR:AN0103739|GTR:AN0103738|HGNC:7489|UMLS:CN036924|GARD:0001108	gard_rare	cardiomyopathy and deafness due to MTTK gene mutation|cardiomyopathy and deafness due to tRNA lysine gene mutation	http://purl.obolibrary.org/obo/MONDO_0022648	A specific change in the MTTK gene causes a condition characterized by weakened heart muscle (cardiomyopathy) and hearing loss. Affected individuals may also have myopathy and ataxia. This mutation replaces the DNA building block (nucleotide) guanine with the nucleotide adenine at position 8363 (written as G8363A) within the gene. It is unclear how this alteration in the MTTK gene results in cardiomyopathy, hearing loss, and other symptoms.	UMLS:CN036924
MONDO:0019007	vaginal atresia	biolink:Disease	mondo	HP:0000148|MedDRA:10046879|Orphanet:65681|ICD10:Q52.0	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0019007		MEDDRA:10046879|ORPHA:65681|UMLS:C1321884
MONDO:0019006	familial idiopathic steroid-resistant nephrotic syndrome	biolink:Disease	mondo	UMLS:C4273714|ICD10:N04.8|Orphanet:656|ICD10:N04.3|UMLS:CN536255|ICD10:N04.1|SCTID:718141008|UMLS:C1868672	ordo_disease	familial idiopathic nephrotic syndrome	http://purl.obolibrary.org/obo/MONDO_0019006	Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset.	UMLS:C4273714|SNOMEDCT:718141008|ORPHA:656|UMLS:C1868672|UMLS:CN536255
HGNC:17358	TPK1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17358		
MONDO:0019001	obsolete biotin-responsive basal ganglia disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019001		
MONDO:0019000	perineural cyst	biolink:Disease	mondo	SCTID:81634008|GARD:0009258|ICD10:G54.8|EFO:1001858|Orphanet:65250|MESH:D052958	ordo_disease	sacral perineural cysts|Tarlov cysts|perineural cysts|sacral neural cysts|sacral Tarlov cysts|Tarlov cyst	http://purl.obolibrary.org/obo/MONDO_0019000	Perineural (or Tarlov) cysts are cerebrospinal fluid-filled nerve root cysts most commonly found at the sacral level of the spine, although they can be found in any section of the spine, which can cause progressively painful radiculopathy.	ORPHA:65250|MESH:D052958|SNOMEDCT:81634008
MONDO:0019003	multiple endocrine neoplasia type 2	biolink:Disease	mondo	GARD:0003830|COHD:24612|Orphanet:653|UMLS:CN073359|NCIT:C123329|SCTID:61808009|UMLS:C4048306|ICD9:258.02|ICD9:194.8|MedDRA:10028191|ICD10:D44.8	ordo_disease|gard_rare	MEN2|multiple endocrine neoplasia type 2	http://purl.obolibrary.org/obo/MONDO_0019003	Multiple endocrine neoplasia type 2 (MEN2) is a multiple endocrine neoplasia, a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC), in one variant, primary hyperparathyroidism (PHPT). There are three forms: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC).	ORPHA:653|MEDDRA:10028191|UMLS:C4048306|NCIT:C123329|SNOMEDCT:61808009|UMLS:CN073359
MONDO:0019002	Lhermitte-Duclos disease	biolink:Disease	mondo	ICDO:9493/0|ICD10:Q04.8|Orphanet:65285|UMLS:C0391826|NCIT:C8419|GARD:0006901	ordo_disease	dysplastic cerebellar gangliocytoma|dysplastic gangliocytoma of cerebellum|LDD|dysplastic gangliocytoma of the cerebellum	http://purl.obolibrary.org/obo/MONDO_0019002	Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.	NCIT:C8419|ORPHA:65285|UMLS:C0391826|UMLS:C1266181
MONDO:0022642	childhood carcinoid tumor	biolink:Disease	mondo	GARD:0009315|UMLS:C3899673|NCIT:C118810	gard_rare	carcinoid tumor childhood|carcinoid tumor (disease) of childhood|childhood carcinoid tumor|pediatric carcinoid tumor (disease)|childhood carcinoid tumor (disease)|pediatric carcinoid tumor (disease)	http://purl.obolibrary.org/obo/MONDO_0022642	A rare carcinoid tumor that occurs during childhood.	NCIT:C118810|UMLS:C3899673
MONDO:0007009	ureterolithiasis	biolink:Disease	mondo	SCTID:31054009|DOID:14146|ICD9:592.1|MESH:D053039|UMLS:C0041952|NCIT:C114696|COHD:201916|EFO:1001228		ureteric stone|calculus of ureter|ureteric calculus	http://purl.obolibrary.org/obo/MONDO_0007009	The presence of a calculus in the ureter of the kidney; this is most often composed of mineral salts and proteins.	SNOMEDCT:31054009|DOID:14146|MESH:D053039|UMLS:C0041952|NCIT:C114696
MONDO:0022643	carcinoma of the vocal tract	biolink:Disease	mondo	GARD:0005996	gard_rare	carcinoma of laryngeal vocal fold|laryngeal vocal fold carcinoma	http://purl.obolibrary.org/obo/MONDO_0022643	A carcinoma that involves the laryngeal vocal fold.	
MONDO:0007007	Ureaplasma urethritis	biolink:Disease	mondo	EFO:1001225|MESH:D016869|SCTID:51105006		Ureaplasma disease or disorder|infection, Ureaplasma|infections, Ureaplasma|Ureaplasma infection|Ureaplasma infectious disease|Ureaplasma caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0007007	Infections with bacteria of the genus ureaplasma.	SNOMEDCT:51105006|MESH:D016869
MONDO:0022644	cardiac hydatid cysts with intracavitary expansion	biolink:Disease	mondo	GARD:0000199	gard_rare	Cardiac hydatidosis	http://purl.obolibrary.org/obo/MONDO_0022644		
MONDO:0009669	spinal muscular atrophy, type 1	biolink:Disease	mondo	GARD:0007883|SCTID:64383006|Orphanet:83330|ICD9:335.0|ICD10:G12.0|ICD9:335.11|NCIT:C98670|DOID:13137|COHD:372616|DOID:0060160|OMIM:253300	ordo_clinical_subtype	SMA type 1|SMA-I|survival motor neuron spinal muscular atrophy|spinal muscular atrophies of childhood|Sma, infantile acute form|progressive muscular atrophy of infancy|SMA1|infantile spinal muscular atrophy|severe infantile spinal muscular atrophy|spinal muscular atrophy, type I; SMA1|Werdnig-Hoffman disease|Werdnig-Hoffmann disease|proximal spinal muscular atrophy, type 1|SMA type I|Werdnig Hoffmann disease|Sma 1|HMN (hereditary motor neuropathy) proximal type I|muscular atrophy, infantile|proximal spinal muscular atrophy type 1|infantile muscular atrophy|spinal muscular atrophy, type I|hereditary motor neuropathy proximal type I|spinal muscular atrophy 1	http://purl.obolibrary.org/obo/MONDO_0009669	Proximal spinal muscular atrophy type 1 (SMA1) is a severe infantile form of proximal spinal muscular atrophy characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.	DOID:13137|SNOMEDCT:64383006|DOID:0060160|ORPHA:83330|http://identifiers.org/omim/253300|NCIT:C98670
MONDO:0007008	uremia	biolink:Disease	mondo	EFO:1001226|ICD10:N19|SCTID:44730006|MedDRA:10046369|MESH:D014511|DOID:4676|UMLS:C0041948		uremia of renal origin	http://purl.obolibrary.org/obo/MONDO_0007008	A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of renal insufficiency. Most uremic toxins are end products of protein or nitrogen catabolism, such as urea or creatinine. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms.	MESH:D014511|SNOMEDCT:44730006|DOID:4676|UMLS:C0041948
HP:0100584	Endocarditis	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:56819008|UMLS:C0014118|MSH:D004696			http://purl.obolibrary.org/obo/HP_0100584	An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves.	
MONDO:0022645	cardioencephalomyopathy	biolink:Disease	mondo	GARD:0010673	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022645		
MONDO:0010657	methylmalonic acidemia with homocystinuria, type cblX	biolink:Disease	mondo	OMIM:309541|Orphanet:369962|GARD:0013137|ICD10:E71.1|UMLS:C0796208|MESH:C563136	ordo_clinical_subtype	methylmalonic acidemia and HOMOCYSTEINEMIA, cblX type|methylmalonic aciduria with homocystinuria, type cblX|mental retardation, X-linked 3|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX|methylmalonic acidemia and homocysteinemia type cblX|intellectual disability, X-linked 3	http://purl.obolibrary.org/obo/MONDO_0010657		MESH:C563136|ORPHA:369962|http://identifiers.org/omim/309541|UMLS:C0796208
MONDO:0009668	lethal multiple pterygium syndrome	biolink:Disease	mondo	OMIM:253290|GARD:0003834|UMLS:C1854678|ICD10:Q79.8|Orphanet:33108|SCTID:60192008|ICD9:759.89|NCIT:C101038	ordo_malformation_syndrome|gard_rare	autosomal recessive lethal multiple pterygium syndrome|lethal multiple pterygium syndrome|LMPS|pterygium syndrome multiple lethal type|pterygium syndrome, multiple, lethal type|multiple pterygium syndrome lethal type|multiple pterygium syndrome, lethal type|multiple pterygium syndrome, lethal type; LMPS	http://purl.obolibrary.org/obo/MONDO_0009668	Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia)of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, andbone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition.	MESH:C537378|NCIT:C101038|UMLS:C1854678|http://identifiers.org/omim/253290|SNOMEDCT:60192008|ORPHA:33108
MONDO:0007005	ulcerative proctosigmoiditis	biolink:Disease	mondo	EFO:1001223|ICD9:556.3|SCTID:52506002			http://purl.obolibrary.org/obo/MONDO_0007005	Inflammation of the rectum and the distal portion of the colon.	SNOMEDCT:52506002
MONDO:0010656	intellectual disability, X-linked 1	biolink:Disease	mondo	GARD:0013221|MESH:C567906|OMIM:309530|MESH:C564489|OMIM:300551|NCIT:C133729		mental retardation, X-linked 1; MRX1|mental retardation, X-linked type 1|MRX|MRX78|X-linked intellectual disability 1|mental retardation, X-linked 1|mental retardation, X-linked 18|IQSEC2-related epilepsy|mental retardation, X-linked 78|X-linked intellectual disability 78|MRX1|X-linked intellectual disability 1/78|IQSEC2-related intellectual disability|IQSEC2|mental retardation, X-linked 78; MRX78	http://purl.obolibrary.org/obo/MONDO_0010656	An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene, encoding IQ motif and SEC7 domain-containing protein 2. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities.	MESH:C564489|http://identifiers.org/omim/309530|http://identifiers.org/omim/300551|NCIT:C133729|MESH:C567906
MONDO:0009667	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	biolink:Disease	mondo	UMLS:C3151519|NCIT:C126740|OMIM:253280|DOID:0111236		muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3|MDDGA3|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3; MDDGA3|Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related	http://purl.obolibrary.org/obo/MONDO_0009667	An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.	UMLS:C3151519|DOID:0111236|http://identifiers.org/omim/253280|NCIT:C126740
MONDO:0007006	ulnar neuropathy	biolink:Disease	mondo	EFO:1001224|UMLS:C0154743|MESH:D020424|DOID:4613|SCTID:359837005		mononeuropathy of ulnar nerve|ulnar neuropathy|ulnar nerve mononeuropathy|ulnar neuropathy (disorder) [ambiguous]	http://purl.obolibrary.org/obo/MONDO_0007006	Disease involving the ulnar nerve from its origin in the brachial plexus to its termination in the hand. Clinical manifestations may include paresis or paralysis of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the axilla, cubital tunnel at the elbow, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5)	DOID:4613|UMLS:C0154743|MESH:D020424|SNOMEDCT:359837005
MONDO:0009666	holocarboxylase synthetase deficiency	biolink:Disease	mondo	DOID:859|Orphanet:79242|SCTID:360369003|NCIT:C98842|GARD:0002721|MESH:D028922|UMLS:C0268581|ICD10:E53.8|SCTID:15307001|ICD10:D81.818|ICD9:270.8|OMIM:253270	gard_rare|ordo_disease	neonatal multiple carboxylase deficiency|early-onset multiple carboxylase deficiency|HLCS deficiency|multiple carboxylase deficiency, early onset|multiple carboxylase deficiency|multiple carboxylase deficiency, neonatal form|holocarboxylase synthetase deficiency|multiple carboxylase deficiency - neonatal onset|biotin-(propionyl-CoA-carboxylase) ligase deficiency|holocarboxylase synthase deficiency	http://purl.obolibrary.org/obo/MONDO_0009666	Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.	SNOMEDCT:360369003|SNOMEDCT:15307001|DOID:859|ORPHA:79242|http://identifiers.org/omim/253270|NCIT:C98842|UMLS:C0268581|MESH:D028922
MONDO:0010659	FRAXE intellectual disability	biolink:Disease	mondo	GARD:0002378|Orphanet:100973|SCTID:716709002|UMLS:C0751157|OMIM:309548	gard_rare|ordo_disease	fragile XE syndrome|FRAXE intellectual disability syndrome|FRAXE syndrome|fragile site, folic acid type|X-linked intellectual disability associated with fragile site FRAXE|mental retardation, X-linked, associated with fragile site FRAXE|X-linked mental retardation associated with fragile site FRAXE|intellectual disability associated with fragile site FRAXE|FRAXE mental retardation syndrome|intellectual disability, X-linked, associated with fragile site FRAXE	http://purl.obolibrary.org/obo/MONDO_0010659	FRAXE is a form of nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR.	http://identifiers.org/omim/309548|ORPHA:100973|SNOMEDCT:716709002|UMLS:C0751157
HGNC:29304	UVSSA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29304		
MONDO:0007003	obsolete twin-to-twin transfusion syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0007003		
MONDO:0009665	biotinidase deficiency	biolink:Disease	mondo	UMLS:CN043572|SCTID:8808004|Orphanet:79241|DOID:856|NCIT:C84598|MedDRA:10071434|GARD:0000894|ICD10:E53.8|UMLS:C0220754|ICD9:277.6|MESH:D028921|ICD10:D81.810|OMIM:253260	ordo_disease	deficiency of biotinidase|late-onset multiple carboxylase deficiency|multiple carboxylase deficiency, juvenile-onset|biotin deficiency|biotinidase deficiency|BTD deficiency|BTD deficiency|juvenile-onset multiple carboxylase deficiency|multiple carboxylase deficiency, late-onset|late-onset biotin-responsive multiple carboxylase deficiency	http://purl.obolibrary.org/obo/MONDO_0009665	Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.	DOID:856|UMLS:CN043572|ORPHA:79241|http://identifiers.org/omim/253260|UMLS:C0220754|NCIT:C84598|MEDDRA:10071434|SNOMEDCT:8808004|MESH:D028921
MONDO:0010658	syndromic X-linked intellectual disability 12	biolink:Disease	mondo	UMLS:C1839792|SCTID:719009006|OMIM:309545|Orphanet:85290|DOID:0060804|MESH:C564106|ICD10:Q87.8	ordo_malformation_syndrome	X-linked intellectual disability, Wilson type|intellectual disability, X-linked, syndromic 12; MRXS12|mental retardation, X-linked, syndromic 12|mental retardation, X-linked, syndromic 12; MRXS12|MRXS12|syndromic X-linked intellectual disability type 12|intellectual disability, X-linked, syndromic 12	http://purl.obolibrary.org/obo/MONDO_0010658	X-linked intellectual disability, Wilson type is characterised by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localised to the 11p region of the X chromosome.	UMLS:C1839792|MESH:C564106|DOID:0060804|SNOMEDCT:719009006|http://identifiers.org/omim/309545|ORPHA:85290
MONDO:0007004	type III hypersensitivity disease	biolink:Disease	mondo	MESH:D007105|EFO:1001222|MedDRA:10045265|UMLS:C0020951|DOID:1557|NCIT:C114346		disorder of type III hypersensitivity|type III hypersensitivity reaction|disorder of type III hypersensitivity|hypersensitivity reaction type III disease|type 3 hypersensitivity reaction|immune complex disease|type III hypersensitivity	http://purl.obolibrary.org/obo/MONDO_0007004	Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides serum sickness and the arthus reaction, evidence supports a pathogenic role for immune complexes in many other immune system diseases including glomerulonephritis, systemic lupus erythematosus (lupus erythematosus, systemic) and polyarteritis nodosa.	MESH:D007105|NCIT:C114346|DOID:1557|UMLS:C0020951
MONDO:0007001	tricuspid valve prolapse (disease)	biolink:Disease	mondo	HP:0001704|Orphanet:95458|UMLS:C0040962|ICD10:Q22.8|DOID:5644|MESH:D014263|SCTID:253383003|EFO:1001218|MedDRA:10066862	ordo_morphological_anomaly	tricuspid valve prolapse	http://purl.obolibrary.org/obo/MONDO_0007001	Abnormal protrusion of one or more of the leaflets of tricuspid valve into the right atrium during systole. This allows the backflow of blood into right atrium leading to tricuspid valve insufficiency; systolic murmurs. Its most common cause is not primary valve abnormality but rather the dilation of the right ventricle and the tricuspid annulus.	DOID:5644|ORPHA:95458|UMLS:C0040962|SNOMEDCT:253383003|MESH:D014263|MEDDRA:10066862
MONDO:0009664	mulibrey nanism	biolink:Disease	mondo	SCTID:81604003|NCIT:C84906|ICD9:759.89|OMIM:253250|Orphanet:2576|GARD:0000095|MESH:D050336|UMLS:C2931895|ICD10:Q87.1|UMLS:C0524582|DOID:0050436	ordo_malformation_syndrome|gard_rare	pericardial constriction and growth failure|pericardial constriction and Growth failure|Perheentupa syndrome|mulibrey nanism|pericardial constriction-growth failure syndrome|mulibrey dwarfism|muscle-liver-brain-eye nanism	http://purl.obolibrary.org/obo/MONDO_0009664	MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.	DOID:0050436|UMLS:C0524582|SNOMEDCT:81604003|http://identifiers.org/omim/253250|MESH:D050336|UMLS:C2931895|NCIT:C84906|MESH:C538604|ORPHA:2576
MONDO:0007002	trochlear nerve disease	biolink:Disease	mondo	ICD10:H49.1|ICD9:378.53|MESH:D020432|NCIT:C78395|EFO:1001220|DOID:13864|MedDRA:10074765		trochlear nerve disorder, NOS|trochlear nerve disease or disorder|IVth nerve disorder|superior oblique muscle innervation disorder|IVth cranial nerve disorder|disorder of trochlear nerve|trochlear nerve disease|disorder of trochlear nerve|disease or disorder of trochlear nerve|trochlear nerve disorder|disease of trochlear nerve	http://purl.obolibrary.org/obo/MONDO_0007002	A disease involving the trochlear nerve.	DOID:13864|MESH:D020432|NCIT:C78395
MONDO:0009663	mucus inspissation of respiratory tract	biolink:Disease	mondo	OMIM:253240|UMLS:C1854729|MESH:C565366		mucus inspissation of respiratory tract	http://purl.obolibrary.org/obo/MONDO_0009663		MESH:C565366|UMLS:C1854729|http://identifiers.org/omim/253240
MONDO:0009662	mucopolysaccharidosis type 7	biolink:Disease	mondo	DOID:12803|SCTID:43916004|Orphanet:584|ICD10:E76.29|GARD:0007096|MESH:D016538|UMLS:C0085132|OMIM:253220|NCIT:C84903|MedDRA:10056893|ICD10:E76.2	ordo_disease	MPS7|Sly disease|mucopolysaccharidosis type VII|Gus deficiency|mucopolysaccharidosis, type 7|MPS7|MPSVII|MPS 7|Sly syndrome|MPS VII|MPS VII - Sly syndrome|deficiency of beta-glucuronidase|beta-glucuronidase deficiency|mucopolysaccharidosis, type VII; MPS7|MPS VII - mucopolysaccharidosis VII|gusb deficiency|mucopolysaccharidosis, type VII|mucopolysaccharidosis VII|mucopolysaccharidosis, mps-VII|Gusb deficiency|Beta-glucuronidase deficiency	http://purl.obolibrary.org/obo/MONDO_0009662	Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses.	ORPHA:584|SNOMEDCT:43916004|http://identifiers.org/omim/253220|DOID:12803|MEDDRA:10056893|MESH:D016538|NCIT:C84903|UMLS:C0085132
HGNC:29300	KANK2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29300		
MONDO:0009661	mucopolysaccharidosis type 6	biolink:Disease	mondo	Orphanet:583|DOID:12800|GARD:0007095|MESH:D009087|UMLS:C0026709|NCIT:C61264|OMIM:253200|ICD10:E76.2|SCTID:69463008|MedDRA:10056892	ordo_disease	ARSB deficiency|Maroteaux - Lamy syndrome|ASB deficiency|Maroteaux-Lamy disease|arylsulfatase B deficiency|Arsb deficiency|mucopolysaccharidosis type VI; MPS6|MPSVI|mucopolysaccharidosis type VI|MPS VI|mucopolysaccharidosis VI|MPS 6|deficiency of N-acetylgalactosamine-4-sulfatase|Maroteaux Lamy syndrome|MPS6|Mucopoly-saccharidosis type VI|N-acetylgalactosamine 4-sulfatase deficiency|MPS VI - Maroteaux-Lamy syndrome|N-acetylgalactosamine-4-sulfatase deficiency|Maroteaux-Lamy syndrome	http://purl.obolibrary.org/obo/MONDO_0009661	Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate.	ORPHA:583|NCIT:C61264|http://identifiers.org/omim/253200|SNOMEDCT:69463008|DOID:12800|MEDDRA:10056892|MESH:D009087|UMLS:C0026709
MONDO:0007000	Treponema infectious disease	biolink:Disease	mondo	MESH:D014211|GARD:0007798|EFO:1001217|NCIT:C85197		bejel|Treponema disease or disorder|infection, Treponemal|infections, Treponemal|Bejels|Treponemal infection|Treponema caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0007000	An disease caused by infection with Treponema.	NCIT:C85197|MESH:D014211
GO:0042582	azurophil granule	biolink:OntologyClass	mondo			primary granule	http://purl.obolibrary.org/obo/GO_0042582	Primary lysosomal granule found in neutrophil granulocytes. Contains a wide range of hydrolytic enzymes and is released into the extracellular fluid.	
MONDO:0009660	mucopolysaccharidosis type 4B	biolink:Disease	mondo	GARD:0003786|UMLS:C0086652|Orphanet:309310|SCTID:238044004|ICD10:E76.2|OMIM:253010|DOID:0111392|NCIT:C84902	ordo_clinical_subtype	Morquio disease type B|MPS IVB|MPS IV B|MPS 4B|mucopolysaccharidosis, type IVB; MPS4B|MPSIVB|Beta-D-galactosidase deficiency|Morquio syndrome B|mucopolysaccharidosis type IVB|mucopolysaccharidosis, type 4B|MPS4B	http://purl.obolibrary.org/obo/MONDO_0009660	A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature.	DOID:0111392|http://identifiers.org/omim/253010|ORPHA:309310|NCIT:C84902|UMLS:C0086652|SNOMEDCT:238044004
MONDO:0010660	intellectual disability, X-linked 9	biolink:Disease	mondo	MESH:C563137|OMIM:309549|UMLS:C0796215		intellectual disability, X-linked 9|intellectual disability, X-linked type 9|mental retardation, X-linked 9|mental retardation, X-linked 9; MRX9|mental retardation, X-linked 44|non-syndromic X-linked intellectual disability caused by mutation in FTSJ1|MRX9|FTSJ1 non-syndromic X-linked intellectual disability|mental retardation, X-linked type 9|intellectual disability, X-linked 44|intellectual disability, X-linked 9; MRX9	http://purl.obolibrary.org/obo/MONDO_0010660	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FTSJ1 gene.	http://identifiers.org/omim/309549|UMLS:C0796215|MESH:C563137
MONDO:0010662	paraplegia-intellectual disability-hyperkeratosis syndrome	biolink:Disease	mondo	Orphanet:2824|UMLS:C2745996|ICD10:G82.1|GARD:0002344|OMIM:309560|MESH:C537058	ordo_malformation_syndrome	mental retardation with spastic paraplegia and palmoplantar hyperkeratosis|Fitzsimmons-McLachlan-Gilbert syndrome|intellectual disability with spastic paraplegia and palmoplantar hyperkeratosis	http://purl.obolibrary.org/obo/MONDO_0010662	Paraplegia-intellectual disability-hyperkeratosis syndrome is characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition.	http://identifiers.org/omim/309560|UMLS:C2745996|MESH:C537058|ORPHA:2824
MONDO:0010661	severe X-linked intellectual disability, Gustavson type	biolink:Disease	mondo	UMLS:C0795965|MESH:C536759|ICD10:F72.9|OMIM:309555|GARD:0005611|SCTID:722213009|Orphanet:3078	ordo_malformation_syndrome	X-linked mental retardation Gustavson type|gust|mental retardation X-linked severe Gustavson type|intellectual disability X-linked severe Gustavson type|intellectual disability with optic atrophy, deafness, and seizures|Gustavson syndrome|mental retardation with optic atrophy, deafness, and seizures|X-linked intellectual disability Gustavson type	http://purl.obolibrary.org/obo/MONDO_0010661	Severe X-linked intellectual disability, Gustavson type is characterised by X-linked mental retardation, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood.	ORPHA:3078|http://identifiers.org/omim/309555|UMLS:C0795965|SNOMEDCT:722213009|MESH:C536759
RO:0002506	causal relation between entities	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002506		
MONDO:0010664	syndromic X-linked intellectual disability Snyder type	biolink:Disease	mondo	ICD9:758.89|SCTID:702416008|DOID:0060802|UMLS:C0796160|Orphanet:3063|OMIM:309583|MESH:C536678|ICD10:Q87.8|GARD:0005615	ordo_disease	X-linked intellectual disability, Snyder type|mental retardation, X-linked, syndromic, Snyder-Robinson type|SRS|X-linked mental retardation Snyder-Robinson type|Snyder-Robinson syndrome|spermine synthase deficiency|X-linked intellectual disability Snyder-Robinson type|mental retardation, X-linked, Snyder-Robinson type|intellectual disability, X-linked, syndromic, Snyder-Robinson type|Snyder-Robinson mental retardation syndrome|mental retardation, X-linked, syndromic, Snyder-Robinson type; MRXSSR|intellectual disability, X-linked, Snyder-Robinson type|Snyder-Robinson intellectual disability syndrome|intellectual disability, X-linked, syndromic, Snyder-Robinson type; MRXSSR|MRXSSR	http://purl.obolibrary.org/obo/MONDO_0010664	Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed.	DOID:0060802|ORPHA:3063|http://identifiers.org/omim/309583|UMLS:C0796160|SNOMEDCT:702416008|MESH:C536678
GO:0042589	zymogen granule membrane	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0042589	The lipid bilayer surrounding a zymogen granule.	
HGNC:17328	DTNBP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17328		
MONDO:0010663	X-linked intellectual disability-hypotonic face syndrome	biolink:Disease	mondo	GARD:0000081|Orphanet:73220|OMIM:309580|UMLS:CN205653	ordo_group_of_disorders|gard_rare	X-linked hypogonadism gynecomastia mental retardation|mental retardation-hypotonic facies syndrome, X-linked, type 1|intellectual disability-hypotonic facies syndrome, X-linked, 1; MRXHF1|intellectual disability, X-linked, with growth retardation, deafness, and microgenitalism|Carpenter-Waziri syndrome|X-linked hypogonadism gynecomastia intellectual disability|mental retardation-hypotonic facies syndrome, X-linked, 1; MRXHF1|mental retardation, X-linked, with growth retardation, deafness, and microgenitalism|Smith-Fineman-Myers syndrome 1|Juberg Marsidi syndrome|Juberg-Marsidi mental retardation syndrome|Juberg-Marsidi syndrome|JMS|XLMR-hypotonic facies syndrome|mental Retradation, X-linked with Growth delay, deafness, Microgenitalism|sfms|MRXHF1|mental retardation-hypotonic facies syndrome, X-linked, 1|intellectual disability-hypotonic facies syndrome, X-linked, 1|Chudley-Lowry syndrome|intellectual disability-hypotonic facies syndrome, X-linked, type 1|Holmes-Gang syndrome	http://purl.obolibrary.org/obo/MONDO_0010663	Mental retardation-hypotonic facies covers a group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features.	UMLS:CN205653|http://identifiers.org/omim/309580|ORPHA:73220
GO:0042588	zymogen granule	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0042588	A membrane-bounded, cytoplasmic secretory granule found in enzyme-secreting cells and visible by light microscopy. Contain zymogen, an inactive enzyme precursor, often of a digestive enzyme.	
RO:0002500	causal agent in process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002500	A relationship between a material entity and a process where the material entity has some causal role that influences the process	
HGNC:17327	WAC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17327		
MONDO:0010666	obsolete Miles-Carpenter syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0010666		
RO:0002501	causal relation between processes	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002501	p is causally related to q if and only if p or any part of p and q or any part of q are linked by a chain of events where each event pair is one of direct activation or direct inhibition. p may be upstream, downstream, part of or a container of q.	
MONDO:0010665	Wilson-Turner syndrome	biolink:Disease	mondo	SCTID:719834005|OMIM:309585|MESH:C536708|DOID:0060814|Orphanet:3459|GARD:0005579	ordo_malformation_syndrome|gard_rare	Wilson-TURNER X-linked intellectual disability syndrome; WTS|intellectual disability, X-linked, syndromic 6 (formerly)|mental retardation, X-linked, with gynecomastia and obesity|Wilson Turner intellectual disability syndrome (formerly)|Wilson Turner mental retardation syndrome (formerly)|intellectual disability, X-linked, with gynecomastia and obesity|intellectual disability, X-linked, syndromic 6|Wilson-TURNER X-linked mental retardation syndrome|Wilson-TURNER X-linked mental retardation syndrome; WTS|mental retardation, X-linked, with gynecomastia and obesity (formerly)|WTS|Wilson-TURNER X-linked intellectual disability syndrome|X-linked intellectual disability - gynecomastia - obesity|intellectual disability, X-linked, with gynecomastia and obesity (formerly)|mental retardation, X-linked, syndromic 6 (formerly)|MRXS6|X-linked intellectual disability-gynecomastia-obesity syndrome|mental retardation, X-linked, syndromic 6	http://purl.obolibrary.org/obo/MONDO_0010665	Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.	DOID:0060814|http://identifiers.org/omim/309585|ORPHA:3459|SNOMEDCT:719834005|MESH:C536708
RO:0002502	depends on	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002502		
MONDO:0022636	candida glabrata	biolink:Disease	mondo	GARD:0008171	gard_rare	Torulopsis glabrata (formerly)	http://purl.obolibrary.org/obo/MONDO_0022636		
HGNC:19986	CYCS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/19986		
MONDO:0022639	Cantu sanchez-corona Garcia-Cruz syndrome	biolink:Disease	mondo	GARD:0001082	gard_rare		http://purl.obolibrary.org/obo/MONDO_0022639		
RO:0002507	determined by	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002507	s determined by f if and only if s is a type of system, and f is a material entity that is part of s, such that f exerts a strong causal influence on the functioning of s, and the removal of f would cause the collapse of s.	
RO:0002508	determines	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002508	inverse of determined by	
RO:0002509	determined by part of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002509	s 'determined by part of' w if and only if there exists some f such that (1) s 'determined by' f and (2) f part_of w, or f=w.	
HGNC:17321	SP7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17321		
HP:0100598	Pulmonary edema	biolink:PhenotypicFeature	mondo	UMLS:C0034063|SNOMEDCT_US:19242006|MSH:D011654		Pulmonary oedema|Wet lung|Excess fluid in lungs|Lung edema	http://purl.obolibrary.org/obo/HP_0100598	Fluid accumulation in the lungs.	
MONDO:0022633	camptodactyly joint contractures and facial skeletal dysplasia	biolink:Disease	mondo	MESH:C537969			http://purl.obolibrary.org/obo/MONDO_0022633		MESH:C537969
MONDO:0007018	vulvitis	biolink:Disease	mondo	DOID:3901|MESH:D014847|SCTID:63144007|ICD10:N76.2|EFO:1001239|UMLS:C0042996|MedDRA:10047780		mammalian vulva inflammation|inflammation of mammalian vulva	http://purl.obolibrary.org/obo/MONDO_0007018	Inflammation of the vulva. It is characterized by pruritus and painful urination.	MESH:D014847|SNOMEDCT:63144007|UMLS:C0042996|DOID:3901
MONDO:0007019	vulvovaginitis	biolink:Disease	mondo	MESH:D014848|MedDRA:10047794|ICD10:N76.0|UMLS:C0042998|COHD:4180978|EFO:1001240|DOID:2273|SCTID:53277000|NCIT:C35131		Vulvo-vaginitis	http://purl.obolibrary.org/obo/MONDO_0007019	An inflammatory pathologic process that affects the vulva and the vagina.	NCIT:C35131|MESH:D014848|UMLS:C0042998|DOID:2273|SNOMEDCT:53277000
MONDO:0022634	camptodactyly vertebral fusion	biolink:Disease	mondo	MESH:C537973|UMLS:C2931682|GARD:0001070	gard_rare	camptodactyly and sacral vertebral fusion|camptodactyly and sacral vertebral fusion (subtype)	http://purl.obolibrary.org/obo/MONDO_0022634		UMLS:C2931682|MESH:C537973
MONDO:0007016	vitamin A deficiency (disease)	biolink:Disease	mondo	MESH:D014802|HP:0004905|UMLS:C0042842|ICD9:264.9|SCTID:72000004|NCIT:C85220|ICD9:264|MedDRA:10047586|ICD9:264.8|EFO:1001237		vitamin A deficiency|deficiencies, vitamin A|deficiency, vitamin A|vitamin A deficiencies	http://purl.obolibrary.org/obo/MONDO_0007016	Deficiency of vitamin A due to malnutrition, malabsorption, or dietary lack. It is manifested with reduced night vision, night blindness, and xerophthalmia.	MESH:D014802|UMLS:C0042842|SNOMEDCT:72000004|NCIT:C85220
MONDO:0009679	arthrogryposis due to muscular dystrophy	biolink:Disease	mondo	Orphanet:1155|OMIM:253900|DOID:0110631|ICD10:M62.8|GARD:0000779|UMLS:C1850865|MESH:C564985	gard_rare|ordo_disease	congenital muscular dystrophy producing arthrogryposis|muscular dystrophy, congenital, producing arthrogryposis	http://purl.obolibrary.org/obo/MONDO_0009679		DOID:0110631|MESH:C564985|http://identifiers.org/omim/253900|UMLS:C1850865|ORPHA:1155
MONDO:0010646	macular dystrophy, X-linked	biolink:Disease	mondo	MESH:C564110|UMLS:C1839842|OMIM:309100		macular dystrophy, X-linked	http://purl.obolibrary.org/obo/MONDO_0010646		UMLS:C1839842|MESH:C564110|http://identifiers.org/omim/309100
MONDO:0009678	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	biolink:Disease	mondo	Orphanet:272|ICD10:G71.0|SCTID:111502003|UMLS:C0410174|DOID:0050559|OMIM:253800|NCIT:C126741	ordo_disease	Fukuyama congenital muscular dystrophy|MDDGA4|congenital muscular dystrophy, Fukuyama type|FCMD|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; MDDGA4|muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4|Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related	http://purl.obolibrary.org/obo/MONDO_0009678	Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.	ORPHA:272|DOID:0050559|SNOMEDCT:111502003|NCIT:C126741|http://identifiers.org/omim/253800|UMLS:C0410174
MONDO:0010645	oculocerebrorenal syndrome	biolink:Disease	mondo	NCIT:C84940|DOID:1056|ICD10:E72.0|SCTID:79385002|OMIM:309000|UMLS:C0028860|MESH:D009800|ICD9:270.8|GARD:0003295|MedDRA:10051707|Orphanet:534|ICD10:E72.03	ordo_malformation_syndrome	oculocerebrorenal syndrome of Lowe|Lowe syndrome|Lowe oculocerebrorenal syndrome|oculocerebrorenal dystrophy|Lowe disease|Lowe oculocerebrorenal syndrome|OCR|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|oculo-cerebro-renal dystrophy|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|oculo-cerebro-renal syndrome|Lowe oculo-cerebro-renal syndrome|Lowe oculocerebrorenal syndrome; OCRL|Ocrl1|OCRL	http://purl.obolibrary.org/obo/MONDO_0010645	Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.	MEDDRA:10051707|DOID:1056|http://identifiers.org/omim/309000|SNOMEDCT:79385002|NCIT:C84940|UMLS:C0028860|MESH:D009800|ORPHA:534
MONDO:0007017	vitreous detachment	biolink:Disease	mondo	NCIT:C50807|MESH:D020255|ICD10:H43.81|DOID:9726|UMLS:C0042907|MedDRA:10047650|EFO:1001238|SCTID:53772007		vitreous, detachment Of|detachment Of vitreous	http://purl.obolibrary.org/obo/MONDO_0007017	Detachment of the vitreous humor from the retina.	UMLS:C0042907|NCIT:C50807|SNOMEDCT:53772007|DOID:9726|MESH:D020255
MONDO:0009677	autosomal recessive limb-girdle muscular dystrophy type 2C	biolink:Disease	mondo	GARD:0002429|UMLS:C0410173|OMIM:253700|DOID:0110277|MESH:C535900|ICD10:G71.0|Orphanet:353	ordo_disease	sarcoglycan, gamma, deficiency of|SCARMD|limb-girdle muscular dystrophy, type 2C|autosomal recessive Duchenne-like muscular dystrophy type 1|limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency|muscular dystrophy, Duchenne-like|Adhalin deficiency, secondary|SGCG autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy, limb-girdle, type 2C|autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCG|Maghrebian myopathy|Duchenne-like muscular dystrophy, autosomal recessive, type 1|gamma-sarcoglycanopathy|severe childhood autosomal recessive muscular dystrophy, North African type|limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency|deficiency of sarcoglycan gamma|Dmda|muscular dystrophy, limb-girdle, type 2C; LGMD2C|severe childhood autosomal recessive muscular dystrophy North African type|DMDA1|LGMD2C	http://purl.obolibrary.org/obo/MONDO_0009677	Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.	ORPHA:353|DOID:0110277|MESH:C535900|http://identifiers.org/omim/253700|UMLS:C0410173
MONDO:0010648	major affective disorder 2	biolink:Disease	mondo	DOID:0080221|OMIM:309200|MESH:C564108		manic-depressive illness|manic-depressive psychosis, X-linked|bipolar affective disorder|major affective disorder 2|MAJOR affective disorder 2; MAFD2|MAFD2	http://purl.obolibrary.org/obo/MONDO_0010648		MESH:C564108|http://identifiers.org/omim/309200|DOID:0080221
MONDO:0007014	vibrio infectious disease	biolink:Disease	mondo	MESH:D014735|UMLS:C0042636|EFO:1001235		Vibrio infectious disease|vibrio infectious disease|Vibrio caused disease or disorder|Vibrio disease or disorder	http://purl.obolibrary.org/obo/MONDO_0007014	Infections with bacteria of the genus vibrio.	UMLS:C0042636|MESH:D014735
MONDO:0007015	viral meningitis	biolink:Disease	mondo	DOID:10310|MedDRA:10047469|COHD:433403|MESH:D008587|ICD9:047.8|NCIT:C118298|ICD10:A87.9|ICD9:321.2|ICD9:047.9|ICD10:A87|SCTID:58170007|UMLS:C0025297|EFO:1001236			http://purl.obolibrary.org/obo/MONDO_0007015	Inflammation of the membranes surrounding the brain and spinal cord due to a viral infection.	UMLS:C0025297|MESH:D008587|DOID:10310|SNOMEDCT:58170007|NCIT:C118298
MONDO:0009676	autosomal recessive limb-girdle muscular dystrophy type 2B	biolink:Disease	mondo	SCTID:718179003|NCIT:C142080|ICD10:G71.0|DOID:0110276|OMIM:253601|Orphanet:268|GARD:0008574|MESH:C535899	ordo_disease	limb-girdle muscular dystrophy, type 2B|limb-girdle muscular dystrophy type 3|limb-girdle muscular dystrophy type 2B|DYSF autosomal recessive limb-girdle muscular dystrophy|autosomal recessive limb-girdle muscular dystrophy caused by mutation in DYSF|LGMD3|muscular dystrophy, limb-girdle, type 3|muscular dystrophy, limb-girdle, type 2B|LGMD2B|limb-girdle muscular dystrophy due to dysferlin deficiency|muscular dystrophy, limb-girdle, type 2B; LGMD2B	http://purl.obolibrary.org/obo/MONDO_0009676	Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.	SNOMEDCT:718179003|DOID:0110276|NCIT:C142080|MESH:C535899|http://identifiers.org/omim/253601|ORPHA:268
MONDO:0010647	spermatogenic failure, X-linked, 2	biolink:Disease	mondo	DOID:0070185|UMLS:C1839841|OMIM:309120		spermatogenic failure, X-linked, 2; SPGFX2|Male infertility from defect in meiosis|spermatogenic failure, X-linked, type 2|TEX11 azoospermia|spermatogenic failure, X-linked, 2|SPGFX2|azoospermia caused by mutation in TEX11	http://purl.obolibrary.org/obo/MONDO_0010647	Any azoospermia in which the cause of the disease is a mutation in the TEX11 gene.	UMLS:C1839841|http://identifiers.org/omim/309120|DOID:0070185
HGNC:29316	ZSWIM6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29316		
MONDO:0009675	autosomal recessive limb-girdle muscular dystrophy type 2A	biolink:Disease	mondo	SCTID:715341003|MESH:C535895|GARD:0001057|Orphanet:267|NCIT:C142079|DOID:0110275|OMIM:253600|ICD10:G71.0|GARD:0003845	ordo_disease	muscular dystrophy, limb-girdle, type 2A; LGMD2A|limb-girdle muscular dystrophy type 2|myositis, eosinophilic|calpainopathy|muscular dystrophy, Pelvofemoral|muscular dystrophy limb girdle type 2A, erb type|Leyden-Moebius muscular dystrophy|limb-girdle muscular dystrophy due to calpain deficiency|muscular dystrophy, limb-girdle, type 2A|CAPN3 autosomal recessive limb-girdle muscular dystrophy|LGMD2|pelvofemoral muscular dystrophy|autosomal recessive limb-girdle muscular dystrophy caused by mutation in CAPN3|LGMD2A|muscular dystrophy, limb-girdle, type 2|primary calpainopathy|limb-girdle muscular dystrophy type 2A	http://purl.obolibrary.org/obo/MONDO_0009675	Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.	DOID:0110275|NCIT:C142079|MESH:C535895|http://identifiers.org/omim/253600|SNOMEDCT:715341003|UMLS:C1869123|ORPHA:267
MONDO:0007012	variant Creutzfeldt-Jakob disease	biolink:Disease	mondo	EFO:1001233|SCTID:304603007|ICD9:046.11|Orphanet:576370|NCIT:C128438|ICD10:A81.01|UMLS:C0085209|DOID:5435|GARD:0009550|MONDO:0005409|MedDRA:10064199	ordo_disease	vCJD	http://purl.obolibrary.org/obo/MONDO_0007012	A form of Creutzfeldt-Jakob disease that is most commonly contracted after consuming meat from an animal suffering from bovine spongiform encephalopathy.	NCIT:C128438|ORPHA:576370|SNOMEDCT:304603007|UMLS:C0085209|DOID:5435
GO:0042592	homeostatic process	biolink:OntologyClass	mondo			positive regulation of homeostatic process|homeostasis|negative regulation of homeostatic process|inhibition of homeostatic process|regulation of homeostatic process|activation of homeostatic process	http://purl.obolibrary.org/obo/GO_0042592	Any biological process involved in the maintenance of an internal steady state.	
MONDO:0009674	muscular dystrophy, adult-onset, with leukoencephalopathy	biolink:Disease	mondo	OMIM:253590|UMLS:C1854646|MESH:C565361		muscular dystrophy, adult-onset, with leukoencephalopathy	http://purl.obolibrary.org/obo/MONDO_0009674		MESH:C565361|UMLS:C1854646|http://identifiers.org/omim/253590
MONDO:0007013	vasculogenic impotence	biolink:Disease	mondo	EFO:1001234|MESH:D018783|UMLS:C0243000|DOID:4762			http://purl.obolibrary.org/obo/MONDO_0007013	Inability to achieve and maintain an erection (erectile dysfunction) due to defects in the arterial blood flow to the penis, defect in venous occlusive function allowing blood drainage (leakage) from the erectile tissue (corpus cavernosum penis), or both.	DOID:4762|MESH:D018783|UMLS:C0243000
MONDO:0010649	isolated congenital megalocornea	biolink:Disease	mondo	GARD:0012648|ICD10:Q15.8|OMIM:309300|SCTID:734026006|Orphanet:91489	ordo_morphological_anomaly	MGC1|congenital anterior megalophthalmia|megalocornea; MGC1|Mgcn|megalocornea	http://purl.obolibrary.org/obo/MONDO_0010649	Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma.	http://identifiers.org/omim/309300|SNOMEDCT:734026006|ORPHA:91489
MONDO:0009673	spinal muscular atrophy, type II	biolink:Disease	mondo	Orphanet:83418|DOID:0050530|GARD:0004945|ICD9:335.19|ICD10:G12.1|OMIM:253550|SCTID:128212001|MESH:C536879	ordo_clinical_subtype	SMA2|chronic spinal muscular atrophy|spinal muscular atrophy type II|Sma 2|SMA II|proximal spinal muscular atrophy type 2|muscular atrophy, spinal, infantile chronic form|spinal muscular atrophy type 2|SMA-II|chronic infantile spinal muscular atrophy|muscular atrophy, spinal, intermediate type|SMA type 2|spinal muscular atrophy, type 2|Dubowitz disease|spinal muscular atrophy, type II; SMA2|SMA type II|Intermediate spinal muscular atrophy|muscular atrophy, spinal, Intermediate type	http://purl.obolibrary.org/obo/MONDO_0009673	Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.	DOID:0050530|MESH:C536879|SNOMEDCT:128212001|ORPHA:83418|http://identifiers.org/omim/253550
MONDO:0007010	obsolete uveitis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0007010		
MONDO:0009672	spinal muscular atrophy, type III	biolink:Disease	mondo	UMLS:C0152109|ICD9:335.11|GARD:0000198|UMLS:C0700595|DOID:12376|ICD10:G12.1|COHD:374634|NCIT:C118847|OMIM:253400|Orphanet:83419|SCTID:54280009	ordo_clinical_subtype|gard_rare	proximal spinal muscular atrophy type 3|KWS|spinal muscular atrophy, type III; SMA3|type III spinal muscular atrophy|childhood spinal muscular atrophy|Sma 3|SMA type 3|Kugelberg-Welander disease|SMA-III|spinal muscular atrophy, type 3|SMA3|Kugelberg-Welander syndrome|juvenile spinal muscular atrophy|SMA 3|spinal muscular atrophy, mild childhood and adolescent form|spinal muscular atrophy of childhood|spinal muscular atrophy III|pediatric spinal muscular atrophy|pediatric spinal muscular atrophy|SMA type III|spinal muscular atrophy, familial|spinal muscular atrophy type 3|muscular atrophy, juvenile	http://purl.obolibrary.org/obo/MONDO_0009672	Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.	ORPHA:83419|DOID:12376|http://identifiers.org/omim/253400|UMLS:C0152109|UMLS:C0700595|NCIT:C118847|SNOMEDCT:54280009
MONDO:0007011	uveoparotid fever	biolink:Disease	mondo	EFO:1001232|ICD10:D86.89|SCTID:4416007|MESH:D014608|DOID:13404|UMLS:C0042171		uveoparotid fever|Heerfordt's syndrome	http://purl.obolibrary.org/obo/MONDO_0007011	A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea.	DOID:13404|SNOMEDCT:4416007|MESH:D014608|UMLS:C0042171
GO:0042593	glucose homeostasis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0042593	Any process involved in the maintenance of an internal steady state of glucose within an organism or cell.	
MONDO:0009671	intellectual disability-myopathy-short stature-endocrine defect syndrome	biolink:Disease	mondo	GARD:0001358|OMIM:253320|SCTID:764959000|UMLS:C1854663|Orphanet:3068|MESH:C535458|ICD10:Q87.8	ordo_disease	Chudley-Rozdilsky syndrome|Chudley syndrome|Chudley Rozdilsky syndrome|multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism|multicore myopathy with intellectual disability, short stature, and hypogonadotropic hypogonadism	http://purl.obolibrary.org/obo/MONDO_0009671	Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.	MESH:C535458|UMLS:C1854663|http://identifiers.org/omim/253320|SNOMEDCT:764959000|ORPHA:3068
MONDO:0009670	lethal congenital contracture syndrome 1	biolink:Disease	mondo	GARD:0003227|SCTID:715418007|DOID:0060559|UMLS:C1854664|OMIM:253310|MESH:C537194|ICD10:Q68.8|Orphanet:1486	ordo_malformation_syndrome	Lccs|GLE1 lethal congenital contracture syndrome|lethal congenital contracture syndrome caused by mutation in GLE1|lethal congenital contracture syndrome type 1|Herva disease|lethal congenital contracture syndrome 1; LCCS1|LCCS1|lethal congenital contracture syndrome 1|lethal autosomal recessive syndrome of multiple congenital contractures|multiple contracture syndrome, Finnish type	http://purl.obolibrary.org/obo/MONDO_0009670	Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.	SNOMEDCT:715418007|UMLS:C1854664|DOID:0060559|http://identifiers.org/omim/253310|MESH:C537194|ORPHA:1486
MONDO:0010651	Menkes disease	biolink:Disease	mondo	Orphanet:565|OMIM:309400|DOID:1838|ICD9:759.89|MedDRA:10027294|MESH:D007706|UMLS:C0022716|NCIT:C75486|ICD10:E83.0|GARD:0001521|SCTID:59178007	ordo_disease|gard_rare	Trichopoliodystrophy|steely hair disease|Menkea syndrome|Mk|Menkes kinky hair syndrome|MNK|Menkes kinky-hair syndrome|MD|kinky hair disease|Menkes disease|X-linked copper deficiency|Menkes syndrome|steely hair syndrome|copper transport disease|kinky hair syndrome	http://purl.obolibrary.org/obo/MONDO_0010651	Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.	MEDDRA:10027294|UMLS:C0022716|DOID:1838|http://identifiers.org/omim/309400|SNOMEDCT:59178007|ORPHA:565|NCIT:C75486|MESH:D007706
MONDO:0010650	Melnick-Needles syndrome	biolink:Disease	mondo	OMIM:309350|MedDRA:10060908|UMLS:C0025237|GARD:0007011|SCTID:13449007|ICD10:Q77.8|Orphanet:2484|ICD9:756.59|DOID:0111788	gard_rare|ordo_malformation_syndrome	osteodysplasty of Melnick and Needles|Melnick-Needles syndrome|Melnick-Needles osteodysplasty|MNS|MELNICK-NEEDLES syndrome; MNS	http://purl.obolibrary.org/obo/MONDO_0010650	Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.	http://identifiers.org/omim/309350|MEDDRA:10060908|ORPHA:2484|UMLS:C0025237|SNOMEDCT:13449007|DOID:0111788
MONDO:0010653	Renpenning syndrome	biolink:Disease	mondo	UMLS:C0796135|Orphanet:3242|ICD9:759.89|MESH:C537761|OMIM:309500|ICD10:Q87.5|DOID:0060179|GARD:0009509|SCTID:699669001	ordo_malformation_syndrome	intellectual disability, X-linked Renpenning type|mental retardation, X-linked 55|RENS1|Sutherland-Haan X-linked intellectual disability syndrome|intellectual disability, X-linked, syndromic 3|X-linked intellectual disability, Renpenning type|X-linked intellectual disability due to PQBP1 mutations|mental retardation, X-linked, syndromic 3|X-linked mental retardation Renpenning type|Renpenning syndrome 1|X-linked mental retardation with spastic diplegia|mental retardation, X-linked Renpenning type|syndromic X-linked mental retardation 8|Sutherland-Haan X-linked mental retardation syndrome|Golabi-Ito-Hall syndrome|MRXS8|Sutherland-Haan syndrome|intellectual disability, X-linked, Renpenning type|syndromic X-linked intellectual disability 8|X-linked intellectual disability syndromic 3|Renpenning syndrome 1; RENS1|Renpenning syndrome type 1|intellectual disability, X-linked, syndromic 8|intellectual disability, X-linked, with spastic diplegia|mental retardation, X-linked, Renpenning type|MRXS3|X-linked mental retardation syndromic 3|X-linked intellectual disability Renpenning type|mental retardation, X-linked, with spastic diplegia|intellectual disability, X-linked 55|mental retardation, X-linked, syndromic 8|X-linked intellectual disability with spastic diplegia	http://purl.obolibrary.org/obo/MONDO_0010653	Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly, leanness and mild short stature.	DOID:0060179|SNOMEDCT:699669001|http://identifiers.org/omim/309500|UMLS:C0796135|ORPHA:3242|MESH:C537761
MONDO:0010652	X-linked intellectual disability-seizures-psoriasis syndrome	biolink:Disease	mondo	GARD:0005238|SCTID:719810000|OMIM:309480|ICD10:Q87.8|MESH:C536978|Orphanet:3052	ordo_disease	mental retardation X-linked, Tranebjaerg type seizures and psoriasis|X-linked mental retardation associated with psoriasis|intellectual disability X-linked, Tranebjaerg type seizures and psoriasis|Tranebjaerg-Svejgaard syndrome|intellectual disability and psoriasis|mental retardation and psoriasis|X-linked intellectual disability associated with psoriasis|Tranebjaerg Svejgaard syndrome|X-linked intellectual disability - seizures - psoriasis	http://purl.obolibrary.org/obo/MONDO_0010652	X-linked intellectual disability-seizures-psoriasis syndrome has been described in four male cousins. The mode of inheritance is thought to be X-linked recessive.	ORPHA:3052|http://identifiers.org/omim/309480|SNOMEDCT:719810000|MESH:C536978
MONDO:0010655	X-linked intellectual disability with marfanoid habitus	biolink:Disease	mondo	SCTID:422437002|OMIM:309520|MESH:C537724|GARD:0003307|ICD10:Q87.8|Orphanet:776	ordo_malformation_syndrome	Lujan-Fryns syndrome|intellectual disability, X-linked, with Marfanoid habitus|Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies|LUJAN-Fryns syndrome|mental retardation, X-linked, with Marfanoid habitus|Lujan syndrome	http://purl.obolibrary.org/obo/MONDO_0010655	The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.	SNOMEDCT:422437002|http://identifiers.org/omim/309520|UMLS:C0796022|MESH:C537724|ORPHA:776
MONDO:0010654	Partington syndrome	biolink:Disease	mondo	DOID:14744|OMIM:309510|GARD:0004235|Orphanet:94083	ordo_malformation_syndrome	intellectual disability-dystonic movements-ataxia-seizures syndrome|X-linked Russell-Silver syndrome|MRXS1|intellectual disability, X-linked, syndromic 1|mental retardation, X-linked, syndromic 1|intellectual disability, X-linked, with dystonic movements, ataxia, and seizures|Partington X-linked mental retardation syndrome|mental retardation, X-linked, with dystonic movements, ataxia, and seizures|intellectual disability, X-linked 36|Partington X-linked intellectual disability syndrome|PRTS|X-linked intellectual disability-dystonia-dysarthria syndrome|Partington-Mulley syndrome|Partington syndrome|Partington X-linked intellectual disability syndrome; PRTS|mental retardation, X-linked 36|Partington X-linked mental retardation syndrome; PRTS	http://purl.obolibrary.org/obo/MONDO_0010654	A rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person.	ORPHA:94083|http://identifiers.org/omim/309510|DOID:14744
HGNC:32952	SNORD118	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/32952		
UBERON:0018543	lumen of intestine	biolink:AnatomicalEntity	mondo			gut lumen|intestine lumen|intestinal lumen	http://purl.obolibrary.org/obo/UBERON_0018543	The anatomical space within the intestine.	
NCBITaxon:6318	Trichostrongylus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6318		
NCBITaxon:6315	Trichostrongylidae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6315		
NCBITaxon:6314	Trichostrongyloidea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6314		
HGNC:29401	MYSM1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29401		
UBERON:0018544	trigeminal nerve muscle	biolink:AnatomicalEntity	mondo			muscle innervated by the trigeminal nerve|muscles innervated by the trigeminal nerve	http://purl.obolibrary.org/obo/UBERON_0018544	Muscle innervated by the trigeminal nerve (Cranial Nerve V).	
HP:0002257	Chronic rhinitis	biolink:PhenotypicFeature	mondo	UMLS:C0008711|SNOMEDCT_US:86094006			http://purl.obolibrary.org/obo/HP_0002257	Chronic inflammation of the nasal mucosa.	
UBERON:0006563	tunica media of pulmonary trunk	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006563	Tunica media of artery which is continuous with the myocardium of right ventricle.[FMA]	
UBERON:0006562	pharynx	biolink:AnatomicalEntity	mondo			pharyngeal tube|anterior part of foregut	http://purl.obolibrary.org/obo/UBERON_0006562	The pharynx is the part of the digestive system immediately posterior to the mouth[GO].	
UBERON:0006569	diencephalic nucleus	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006569	A nucleus of brain that is part of a diencephalon.	
UBERON:0006568	hypothalamic nucleus	biolink:AnatomicalEntity	mondo			nucleus of hypothalamus	http://purl.obolibrary.org/obo/UBERON_0006568	A nucleus of brain that is part of a hypothalamus.	
UBERON:0006567	right ventricle myocardium	biolink:AnatomicalEntity	mondo			myocardium of right ventricle|right ventricular myocardium	http://purl.obolibrary.org/obo/UBERON_0006567	A myocardium that is part of a right ventricle of a heart.	
HP:0002250	Abnormal large intestine morphology	biolink:PhenotypicFeature	mondo	UMLS:C4025715		Abnormality of the large intestine	http://purl.obolibrary.org/obo/HP_0002250	Any abnormality of the large intestine.	
UBERON:0006566	left ventricle myocardium	biolink:AnatomicalEntity	mondo			myocardium of left ventricle|left ventricular myocardium	http://purl.obolibrary.org/obo/UBERON_0006566	A myocardium that is part of a left ventricle of a heart.	
RO:0002608	process has causal agent	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0002608	Inverse of 'causal agent in process'	
UBERON:0006565	female urethral meatus	biolink:AnatomicalEntity	mondo			urethral meatus of clitoral urethra|urethral opening of clitoral urethra|distal urethral opening of female|external orifice of female urethra|female urethral meatus|external urethral orifice (female)|ostium urethrae externum (urethra feminina)	http://purl.obolibrary.org/obo/UBERON_0006565	A urethral meatus that is part of a female urethra[Automatically generated definition].	
CHEBI:57718	barbiturate(2-)	biolink:ChemicalSubstance	mondo			barbiturate dianion|2,4,6-trioxotetrahydro-2H-pyrimidine-1,5-diide|2,4,6-trioxo-1,3-diazinane-1,5-diide	http://purl.obolibrary.org/obo/CHEBI_57718	Dianion of barbituric acid arising from deprotonation at the N-1 and C-5 positions.	
NCBITaxon:6329	Trichinellida	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6329		
HGNC:29419	EARS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29419		
CHEBI:33767	cobalt group molecular entity	biolink:ChemicalSubstance	mondo			cobalt group molecular entity|cobalt group molecular entities	http://purl.obolibrary.org/obo/CHEBI_33767		
UBERON:0006553	renal duct	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006553	A tube in the kidney that collect and transport urine.	
FOODON:00001248	fish food product	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00001248	A fish food product includes products made from any fish species (aquatic vertebrate with gills and fins).	
HP:0002269	Abnormality of neuronal migration	biolink:PhenotypicFeature	mondo	MSH:D054081|UMLS:C1837249		Neuronal migration disorder|Heterotopias/abnormal migration|Abnormal neuronal migration|Migrational brain disorder	http://purl.obolibrary.org/obo/HP_0002269	An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain.	
NCBITaxon:6333	Trichinella	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6333		
NCBITaxon:6334	Trichinella spiralis	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6334		
UBERON:0006558	lymphatic part of lymphoid system	biolink:AnatomicalEntity	mondo			lymphatic system|lymporeticular system|lymphatic tree system	http://purl.obolibrary.org/obo/UBERON_0006558	An organ system subdivision that is a network of vessels capable of removing accumulating protein and fluid from the interstitial space and returning it to the vascular space. In some species, this network is connected to the immune system via lymph nodes and lymphocyte-producing organs, with the whole being the lymphoid system.	
NCBITaxon:6332	Trichinellidae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6332		
UBERON:0006555	excretory tube	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006555	A tube that is part of a excretory system.	
CHEBI:18140	hydrogen halide	biolink:ChemicalSubstance	mondo			hydrogen halide|hydrogen halides|hydrogen halides|HX	http://purl.obolibrary.org/obo/CHEBI_18140		
UBERON:2002162	ural vertebra	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_2002162	Vertebra that is incomplete or rudimentary and may bear a rudimentary neural arch and sometimes a rudimentary spine or the neural arch and spine are completely absent. Ural vertebrae are one of the last bony elements of the vertebral column, usually smaller than the preural centra. Ural vertebrae are numbered beginning from anterior (1) to posterior (2, 3, 4, etc.). Ural vertebra is an unpaired median bone.	
NCBITaxon:2509514	Tegacovirus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2509514		
NCBITaxon:2509511	Sarbecovirus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2509511		
UBERON:0006542	outer medulla outer stripe loop of Henle	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006542	A loop of Henle that is part of a kidney outer medulla outer stripe.	
HP:0002239	Gastrointestinal hemorrhage	biolink:PhenotypicFeature	mondo	UMLS:C0017181|SNOMEDCT_US:74474003|MSH:D006471		GI hemorrhage|Gastrointestinal haemorrhage|Gastrointestinal bleeding	http://purl.obolibrary.org/obo/HP_0002239	Hemorrhage affecting the gastrointestinal tract.	
FOODON:00001256	dairy food product	biolink:OntologyClass	mondo	http://www.langual.org/langual_thesaurus.asp?termid=H0242		milk product|dairy product	http://purl.obolibrary.org/obo/FOODON_00001256	A dairy food product has mammilian milk or a milk component as an ingredient.	
FOODON:00001257	milk or milk based food product	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00001257		
NCBITaxon:6300	Tylenchina	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6300		
NCBITaxon:186537	Marburgvirus	organism taxon	mondo	GC_ID:1		Marburg-like viruses	http://purl.obolibrary.org/obo/NCBITaxon_186537		
NCBITaxon:186536	Ebolavirus	organism taxon	mondo	GC_ID:1		Ebola-like viruses	http://purl.obolibrary.org/obo/NCBITaxon_186536		
NCBITaxon:186538	Zaire ebolavirus	organism taxon	mondo	GC_ID:1		Zaire Ebola virus|ZEBOV	http://purl.obolibrary.org/obo/NCBITaxon_186538		
UBERON:0006544	kidney vasculature	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006544	A vasculature that is part of a kidney.	
NCBITaxon:6308	Strongylida	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_6308		
CHEBI:33747	nickel group molecular entity	biolink:ChemicalSubstance	mondo			nickel group molecular entity|nickel group molecular entities	http://purl.obolibrary.org/obo/CHEBI_33747		
CHEBI:33748	nickel molecular entity	biolink:ChemicalSubstance	mondo			nickel molecular entity|nickel molecular entities|nickel compounds	http://purl.obolibrary.org/obo/CHEBI_33748		
FOODON:00001262	botanical fruit food product	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00001262	Mature ovary of a plant, with a fleshy part of the carpel that develops with the seed to attract animals for aid in dispersal. Botanically, nuts are considered fruits.	
UBERON:0006531	oculomotor muscle	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006531	The muscles that move the eye. Included in this group are the medial rectus, lateral rectus, superior rectus, inferior rectus, inferior oblique, superior oblique, musculus orbitalis, and levator palpebrae superioris.	
UBERON:0006530	seminal fluid	biolink:AnatomicalEntity	mondo			seminal fluid|male genital fluid|seminal plasma|male genital secretion	http://purl.obolibrary.org/obo/UBERON_0006530	A substance formed from the secretion of one or more glands of the male genital tract in which sperm cells are suspended.	
HP:0002244	Abnormality of the small intestine	biolink:PhenotypicFeature	mondo	UMLS:C4025717			http://purl.obolibrary.org/obo/HP_0002244	An abnormality of the small intestine.	
HGNC:17416	ADGRV1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17416		
HP:0002249	Melena	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:249627005|UMLS:C0474585|UMLS:C0025222|SNOMEDCT_US:2901004|MSH:D008551|SNOMEDCT_US:267055007|SNOMEDCT_US:269899009|SNOMEDCT_US:35064005		Black feces	http://purl.obolibrary.org/obo/HP_0002249	The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.	
CHEBI:33743	manganese group molecular entity	biolink:ChemicalSubstance	mondo			manganese group molecular entity|manganese group molecular entities	http://purl.obolibrary.org/obo/CHEBI_33743		
CHEBI:33744	iron group molecular entity	biolink:ChemicalSubstance	mondo			iron group molecular entities|iron group molecular entity	http://purl.obolibrary.org/obo/CHEBI_33744		
HP:0002248	Hematemesis	biolink:PhenotypicFeature	mondo	MSH:D006396|SNOMEDCT_US:8765009|UMLS:C0018926		Vomitting blood	http://purl.obolibrary.org/obo/HP_0002248	The vomiting of blood.	
HGNC:17412	CLCF1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17412		
UBERON:0006539	mammary gland fluid/secretion	biolink:AnatomicalEntity	mondo			lactiferous gland fluid|lactiferous gland secretion|secretion of mammary gland|mammary gland secreted fluid|mammary gland fluid|mammary gland secretion	http://purl.obolibrary.org/obo/UBERON_0006539	A substance that is secreted by a mammary gland. The substance may differ depending on phase, with colostrum produced during pregancy/early lactation, and milk produced afterwards.	
UBERON:0006538	respiratory system fluid/secretion	biolink:AnatomicalEntity	mondo			respiratory system secretion|respiratory system fluid	http://purl.obolibrary.org/obo/UBERON_0006538	A portion of organism substance that secreted_by a respiratory system.	
UBERON:0006537	female reproductive gland secretion	biolink:AnatomicalEntity	mondo			female reproductive system fluid|female reproductive system secretion|female reproductive system fluid/secretion	http://purl.obolibrary.org/obo/UBERON_0006537	A portion of organism substance that is secreted by a female reproductive gland.	
UBERON:0006536	male reproductive gland secretion	biolink:AnatomicalEntity	mondo			male reproductive system fluid|male reproductive system fluid/secretion|male reproductive system secretion	http://purl.obolibrary.org/obo/UBERON_0006536	A portion of organism substance that is secreted by a male reproductive gland.	
UBERON:0006535	skin secretion	biolink:AnatomicalEntity	mondo			skin fluid|skin fluid/secretion|skin substance	http://purl.obolibrary.org/obo/UBERON_0006535	A portion of organism substance that secreted_by a zone of skin.	
HP:0002242	Abnormal intestine morphology	biolink:PhenotypicFeature	mondo	MSH:D007410|UMLS:C0021831|SNOMEDCT_US:85919009		Abnormality of the intestine|Enteropathy	http://purl.obolibrary.org/obo/HP_0002242	An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine.	
UBERON:0006534	renal convoluted tubule	biolink:AnatomicalEntity	mondo			convoluted tubule|kidney convoluted tubule	http://purl.obolibrary.org/obo/UBERON_0006534	Any region of a nephron tubule that is convoluted. Examples: distal convoluted tubule, proximal convoluted tuble.	
HP:0002240	Hepatomegaly	biolink:PhenotypicFeature	mondo	MSH:D006529|SNOMEDCT_US:80515008|UMLS:C0019209		Enlarged liver	http://purl.obolibrary.org/obo/HP_0002240	Abnormally increased size of the liver.	
UBERON:0006532	oblique extraocular muscle	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006532		
MONDO:0010719	radiation sensitivity of natural killer activity	biolink:Disease	mondo	UMLS:C1839408|OMIM:312210|MESH:C564066		radiation sensitivity of natural killer activity|X-Ray Nk sensitivity	http://purl.obolibrary.org/obo/MONDO_0010719		http://identifiers.org/omim/312210|UMLS:C1839408|MESH:C564066
MONDO:0009729	nephropathy - deafness - hyperparathyroidism syndrome	biolink:Disease	mondo	GARD:0003940|ICD10:Q87.8|OMIM:256120|UMLS:C1850553|MESH:C536401|SCTID:724093004|Orphanet:2668	ordo_malformation_syndrome|gard_rare	nephropathy - deafness - hyperparathyroidism|Edwards-Patton-Dilly syndrome|Edwards Patton Dilly syndrome|nephropathy, deafness, and hyperparathyroidism	http://purl.obolibrary.org/obo/MONDO_0009729	Nephropathy-deafness-hyperparathyroidism syndrome is characterised by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous patents. The mode of inheritance appears to be autosomal recessive.	MESH:C536401|UMLS:C1850553|SNOMEDCT:724093004|ORPHA:2668|http://identifiers.org/omim/256120
MONDO:0009728	nephronophthisis 1	biolink:Disease	mondo	SCTID:444830001|MESH:C537699|NCIT:C74998|OMIM:256100|Orphanet:93592|UMLS:C1855681|ICD10:Q61.5|DOID:0111112|UMLS:CN205459	ordo_clinical_subtype	juvenile nephronophthisis|familial juvenile nephronophthisis|nephronophthisis type 1|nephronophthisis 1; NPHP1|NPHP1 nephronophthisis (disease)|NPHP1|nephronophthisis, familial juvenile|juvenile nephronophthisis 1|nephronophthisis 1|Nph1|NPH1|nephronophthisis (disease) caused by mutation in NPHP1	http://purl.obolibrary.org/obo/MONDO_0009728	Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure.	UMLS:C1855681|UMLS:CN205459|NCIT:C74998|SNOMEDCT:444830001|ORPHA:93592|DOID:0111112|http://identifiers.org/omim/256100|MESH:C537699
MONDO:0009727	atelosteogenesis type II	biolink:Disease	mondo	UMLS:C1850554|Orphanet:56304|OMIM:256050|MESH:C535395|GARD:0008329|UMLS:C1850555|ICD10:Q77.5|SCTID:254055004|ICD9:756.9	ordo_malformation_syndrome	De 50A Chapelle dysplasia|neonatal osseous dysplasia 1|neonatal osseous dysplasia type 1|AOII|Aoii|AO2|atelosteogenesis, type 2|atelosteogenesis type 2|De la Chapelle dysplasia|atelosteogenesis, type II; AO2|atelosteogenesis, type II|atelosteogenesis II	http://purl.obolibrary.org/obo/MONDO_0009727	Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.	UMLS:C0432203|MESH:C535395|SNOMEDCT:254055004|UMLS:C1850555|UMLS:C1850554|http://identifiers.org/omim/256050|ORPHA:56304
MONDO:0009726	proteosome-associated autoinflammatory syndrome	biolink:Disease	mondo	DOID:0050553|ICD9:709.8|GARD:0003916|MESH:C538334|UMLS:CN202195|OMIMPS:256040|GARD:0003917|GARD:0010988|GARD:0010811|Orphanet:325004|UMLS:CN204109|Orphanet:2615|SCTID:702449004|ICD10:L98.8|Orphanet:324999|Orphanet:324977	ordo_clinical_subtype|gard_rare|ordo_disease	chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature|chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome|autoinflammation, lipodystrophy, and dermatosis syndrome|amyotrophy-fat tissue anomaly syndrome|Joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy|ALDD|secondary hypertrophic osteoperiostosis with pernio|amyotrophy fat tissue anomaly|proteasome-associated autoinflammatory syndrome|nodular erythema digital changes|NNS|Nakajo Nishimura syndrome|proteasome disability syndrome|Nakajo syndrome|autoinflammation-lipodystrophy-dermatosis syndrome|Joint contractures - muscle atrophy - microcytic anemia - panniculitis-induced lipodystrophy|Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome|autoinflammation, lipodystrophy, and dermatosis syndrome; ALDD|PRAAS|JMP syndrome|CANDLE syndrome|ALDD syndrome|chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|Nakajo-Nishimura syndrome	http://purl.obolibrary.org/obo/MONDO_0009726		ORPHA:325004|UMLS:CN204109|SNOMEDCT:702449004|UMLS:CN202195|ORPHA:324977|ORPHA:324999|MESH:C538334|ORPHA:2615|DOID:0050553
MONDO:0009725	nemaline myopathy 2	biolink:Disease	mondo	MESH:C538349|NCIT:C118784|UMLS:CN187052|UMLS:C1850569|OMIM:256030|DOID:0110928		nemaline myopathy 2|NEB nemaline myopathy|NEM2|nemaline myopathy caused by mutation in NEB|nemaline myopathy type 2|nemaline myopathy 2; NEM2|nemaline myopathy 2, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009725	An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness.	DOID:0110928|UMLS:C1850569|MESH:C538349|NCIT:C118784|http://identifiers.org/omim/256030|UMLS:CN187052
MONDO:0009724	nail-patella-like renal disease	biolink:Disease	mondo	SCTID:236527004|ICD9:756.89|UMLS:C0403548|GARD:0000321|OMIM:256020|Orphanet:2613|MESH:C537228	ordo_disease	nail patella like renal disease|nail-patella-like renal disease|glomerular basement Membrane disease, nail-patella syndrome type|Salcedo syndrome	http://purl.obolibrary.org/obo/MONDO_0009724	Nail-patella-like renal disease is a severe nephropathy characterised by renal dysfunction, proteinuria, oedema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency.	UMLS:C0403548|SNOMEDCT:236527004|ORPHA:2613|MESH:C537228|http://identifiers.org/omim/256020
MONDO:0022700	cerebral palsy spastic monoplegic	biolink:Disease	mondo	GARD:0010446	gard_rare	spastic monoplegia cerebral palsy|spastic monoplegic cerebral palsy	http://purl.obolibrary.org/obo/MONDO_0022700		
MONDO:0009723	Leigh syndrome	biolink:Disease	mondo	ICD10:G31.8|ICD9:330.8|UMLS:C0023264|MedDRA:10062950|MESH:D007888|SCTID:29570005|NCIT:C84814|OMIM:256000|ICD10:G31.82|GARD:0006877|Orphanet:506|DOID:3652	ordo_group_of_disorders	Leigh syndrome due to mitochondrial Complex 2 deficiency|Leigh syndrome due to mitochondrial Complex 3 deficiency|Leigh syndrome|Leigh syndrome due to mitochondrial Complex 4 deficiency|Leigh syndrome due to mitochondrial Complex 5 deficiency|necrotizing encephalopathy, infantile Subacute, of Leigh|Leigh syndrome; LS|Leigh's necrotizing encephalopathy|Leigh disease|infantile necrotizing encephalomyelopathy|Leigh's disease|juvenile subacute necrotizing encephalomyelopathy|SNE|LS|subacute necrotizing encephalopathy|subacute necrotizing encephalomyelopathy|infantile subacute necrotizing encephalopathy|Leigh syndrome due to mitochondrial Complex 1 deficiency	http://purl.obolibrary.org/obo/MONDO_0009723	Leigh syndrome or subacute necrotizing encephalomyelopathy is a progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.	UMLS:C0023264|MESH:D007888|DOID:3652|SNOMEDCT:29570005|MEDDRA:10062950|NCIT:C84814|http://identifiers.org/omim/256000|UMLS:C0751267|ORPHA:506
MONDO:0010712	panhypopituitarism, X-linked	biolink:Disease	mondo	SCTID:237683004|GARD:0006737|DOID:0111779|OMIM:312000|MESH:C538613	gard_rare	pituitary dwarfism IV|PHPX|panhypopituitarism X-linked|panhypopituitarism, X-linked; PHPX|pituitary dwarfism IV (formerly)|pituitary dwarfism IV, formerly|panhypopituitarism, X-linked	http://purl.obolibrary.org/obo/MONDO_0010712		http://identifiers.org/omim/312000|MESH:C538613|DOID:0111779|SNOMEDCT:237683004
MONDO:0010711	tarp syndrome	biolink:Disease	mondo	MESH:C536942|DOID:0111780|UMLS:C1839463|Orphanet:2886|GARD:0010089|OMIM:311900|ICD10:Q87.8|SCTID:725911008	gard_rare|ordo_malformation_syndrome	TARPS|Pierre Robin syndrome with congenital heart malformation and clubfoot|tarp syndrome|talipes equinovarus, atrial septal defect, Robin sequence, and persistence of left Superior vena cava|talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome|Pierre Robin sequence-congenital heart defect-talipes syndrome|Pierre Robin syndrome-congenital heart defect-talipes syndrome|tarp syndrome; TARPS|Pierre Robin syndrome - congenital heart defect - talipes|Pierre Robin sequence - congenital heart defect - talipes|talipes equinovarus - atrial septal defect - Robin sequence - persistence of the left superior vena cava	http://purl.obolibrary.org/obo/MONDO_0010711	TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.	ORPHA:2886|UMLS:C1839463|http://identifiers.org/omim/311900|DOID:0111780|MESH:C536942|SNOMEDCT:725911008
MONDO:0009722	Bailey-Bloch congenital myopathy	biolink:Disease	mondo	ICD10:G71.2|UMLS:C1850625|GARD:0008432|MESH:C538343|DOID:0060346|SCTID:723439002|OMIM:255995|Orphanet:168572	ordo_malformation_syndrome	Native American myopathy|NAM|congenital myopathy-cleft palate-malignant hyperthermia syndrome|myopathy, congenital, with cleft palate and malignant hyperthermia|congenital myopathy - cleft palate - malignant hyperthermia|STAC3 disorder|congenital myopathy cleft palate and malignant hyperthermia|Native American myopathy; NAM	http://purl.obolibrary.org/obo/MONDO_0009722	Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.	DOID:0060346|http://identifiers.org/omim/255995|ORPHA:168572|UMLS:C1850625|MESH:C538343|SNOMEDCT:723439002
MONDO:0009721	Nathalie syndrome	biolink:Disease	mondo	MESH:C538342|GARD:0003929|Orphanet:2663|SCTID:716170005|OMIM:255990|UMLS:C1850626|ICD10:Q87.8	ordo_malformation_syndrome|gard_rare	sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome|deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics|deafness-cataract-skeletal anomalies syndrome|deafness-cataracts-skeletal anomalies syndrome|Nathalie syndrome	http://purl.obolibrary.org/obo/MONDO_0009721	Nathalie syndrome is characterised by deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics, and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother.	http://identifiers.org/omim/255990|UMLS:C1850626|MESH:C538342|ORPHA:2663|SNOMEDCT:716170005
MONDO:0010714	Pelizaeus-Merzbacher disease	biolink:Disease	mondo	Orphanet:702|OMIM:312080|GARD:0004265|NCIT:C75487|MedDRA:10067610|MESH:D020371|ICD10:E75.2|SCTID:64855000|UMLS:C0205711|DOID:3210	gard_rare|ordo_disease	leukodystrophy, sudanophilic|leukodystrophy, hypomyelinating, 1|sudanophilic leukodystrophy, Paelizeus-Merzbacher type|Pelizaeus Merzbacher brain sclerosis|hypomyelinating leukodystrophy 1|Pelizaeus-Merzbacher brain sclerosis|Sudanophilic leukodystrophy, Paelizeus-Merzbacher type|Pelizaeus-Merzbacher disease; PMD|diffuse familial brain sclerosis|Pelizaeus Merzbacher disease|Pelizaeus-Merzbacher disease|HLD1|PMD	http://purl.obolibrary.org/obo/MONDO_0010714	Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD.	MESH:D020371|http://identifiers.org/omim/312080|MEDDRA:10067610|SNOMEDCT:64855000|DOID:3210|NCIT:C75487|ORPHA:702|UMLS:C0205711
MONDO:0009720	Keipert syndrome	biolink:Disease	mondo	GARD:0000267|OMIM:255980|ICD10:Q87.0|OMIM:301026|Orphanet:2662|UMLS:C1850627|SCTID:763774001|MESH:C538337	ordo_malformation_syndrome	nasodigitoacoustic syndrome, formerly|Keipert syndrome|nasodigitoacoustic syndrome|Keipert syndrome; KPTS	http://purl.obolibrary.org/obo/MONDO_0009720	Keipert syndrome is a rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis.	http://identifiers.org/omim/255980|http://identifiers.org/omim/301026|UMLS:C1850627|MESH:C538337|ORPHA:2662|SNOMEDCT:763774001
MONDO:0010713	properdin deficiency, X-linked	biolink:Disease	mondo	Orphanet:2966|SCTID:81166004|ICD10:D84.1|DOID:0111768|ICD9:279.8|OMIM:312060|GARD:0004513|GARD:0009913|MESH:C537241	ordo_disease	PFD|complement Factor properdin deficiency|CFPD|properdin P Factor deficiency|properdin deficiency, type 3|properdin deficiency, type 2|properdin deficiency, type 1|properdin deficiency, X-linked; CFPD|properdin deficiency, X-linked	http://purl.obolibrary.org/obo/MONDO_0010713	Properdin deficiency is a rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease.	http://identifiers.org/omim/312060|SNOMEDCT:81166004|MESH:C537241|ORPHA:2966|UMLS:C0398762|DOID:0111768
MONDO:0010716	X-linked lethal multiple pterygium syndrome	biolink:Disease	mondo	OMIM:312150|GARD:0004573|MESH:C564072|SCTID:763462004|Orphanet:79447|ICD10:Q79.8|UMLS:C1839440	gard_rare|ordo_malformation_syndrome	pterygium syndrome, multiple, X-linked|lethal multiple pterygium syndrome, X-linked|multiple pterygium syndrome, X-linked|multiple pterygium syndrome X-linked|pterygium syndrome multiple X-linked	http://purl.obolibrary.org/obo/MONDO_0010716	X-linked form of lethal multiple pterygium syndrome.	http://identifiers.org/omim/312150|SNOMEDCT:763462004|UMLS:C1839440|MESH:C564072|ORPHA:79447
MONDO:0010715	obsolete pseudohermaphroditism, incomplete male, type 1	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0010715		
MONDO:0010718	absent radius-anogenital anomalies syndrome	biolink:Disease	mondo	MESH:C535281|UMLS:C1839410|Orphanet:3016|GARD:0004633|OMIM:312190	ordo_malformation_syndrome	radial aplasia, X-linked|radial aplasia and anogenital anomalies|radius absent anogenital anomalies	http://purl.obolibrary.org/obo/MONDO_0010718	Absent radius-anogenital anomalies syndrome is a rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.	ORPHA:3016|http://identifiers.org/omim/312190|UMLS:C1839410|MESH:C535281
MONDO:0010717	pyruvate dehydrogenase E1-alpha deficiency	biolink:Disease	mondo	OMIM:312170|ICD9:277.6|Orphanet:79243|SCTID:124593001|ICD10:E74.4|GARD:0004620	gard_rare|ordo_clinical_subtype	ataxia with lactic acidosis 1|ataxia, intermittent, with abnormal pyruvate metabolism|PDH deficiency|pyruvate dehydrogenase E1-alpha deficiency|PDHAD|ataxia, intermittent, with pyruvate dehydrogenase deficiency|lactic acidemia, thiamine-responsive|pyruvate decarboxylase deficiency|pyruvate dehydrogenase Complex deficiency|ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency|pyruvate dehydrogenase complex E1 component subunit alpha deficiency|pyruvate dehydrogenase E1-ALPHA deficiency; PDHAD	http://purl.obolibrary.org/obo/MONDO_0010717	Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.	http://identifiers.org/omim/312170|ORPHA:79243|SNOMEDCT:124593001
CHEBI:33719	alpha-amino-acid cation	biolink:ChemicalSubstance	mondo			alpha-amino acid cations|alpha-amino-acid cations|alpha-amino-acid cation	http://purl.obolibrary.org/obo/CHEBI_33719		
MONDO:0010721	reticuloendotheliosis, X-linked	biolink:Disease	mondo	MESH:C538362|UMLS:C0035288|OMIM:312500|GARD:0007559		reticuloendotheliosis|reticuloendotheliosis, X-linked	http://purl.obolibrary.org/obo/MONDO_0010721		http://identifiers.org/omim/312500|MESH:C538362|UMLS:C0035288
CHEBI:33710	alpha-amino-acid residue	biolink:ChemicalSubstance	mondo			alpha-amino-acid residues	http://purl.obolibrary.org/obo/CHEBI_33710		
MONDO:0010720	partial androgen insensitivity syndrome	biolink:Disease	mondo	GTR:AN0098655|OMIM:312300|GTR:AN0098654|GTR:AN0098652|GTR:AN0098651|OMIM:312100|SCTID:122811000119101|GTR:AN0098650|ICD10:E34.52|NCIT:C120192|Orphanet:90797|OMIM:307300|MESH:C538435|UMLS:CN035075|GTR:AN0098649|ICD10:E34.5|GARD:0005692	ordo_disease|gard_rare	androgen insensitivity, partial; pais|incomplete male pseudohermaphroditism|Reifenstein syndrome, partial|pseudohermaphroditism, incomplete male, type I|Reifenstein syndrome|androgen insensitivity, partial|familial incomplete Male pseudohermaphroditism, type 1|androgen resistance syndrome, partial|PAIS|androgen insensitivity syndrome, partial|partial androgen resistance syndrome|androgen insensitivity, partial, with or without breast cancer|type I familial incomplete male pseudohermaphroditism	http://purl.obolibrary.org/obo/MONDO_0010720	Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens.	http://identifiers.org/omim/312300|http://identifiers.org/omim/307300|MESH:C538435|NCIT:C120192|ORPHA:90797|SNOMEDCT:122811000119101|UMLS:CN035075|http://identifiers.org/omim/312100
HP:0100606	Neoplasm of the respiratory system	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:126667002|MSH:D012142|UMLS:C0035244|SNOMEDCT_US:448708002|NCIT:C3262		Respiratory system tumor	http://purl.obolibrary.org/obo/HP_0100606	A tumor (abnormal growth of tissue) of the respiratory system.	
HP:0100603	Toxemia of pregnancy	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:15394000|UMLS:C0032914|SNOMEDCT_US:398254007|MSH:D011225		Hypertensive disorder of pregnancy|Toxaemia of pregnancy	http://purl.obolibrary.org/obo/HP_0100603	Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia.	
MONDO:0010709	early-onset parkinsonism-intellectual disability syndrome	biolink:Disease	mondo	SCTID:716107009|MESH:C537179|GARD:0003203|OMIM:311510|Orphanet:2379|ICD10:G20|DOID:0111781|UMLS:C0796195	ordo_disease	X-linked recessive basal ganglia disorder with intellectual disability|basal ganglia disorder with intellectual disability|WAISMAN syndrome|Parkinsonism, early onset with intellectual disability|WSMN|basal ganglion disorder with mental retardation|Waisman syndrome|basal ganglion disorder with intellectual disability|Wsn|Parkinsonism, early onset with mental retardation|Laxova-Opitz syndrome|BGMR|basal ganglia disorder with mental retardation|X-linked recessive basal ganglia disorder with mental retardation|WAISMAN syndrome; WSMN|Laxova Brown hogan syndrome|Parkinsonism, early-onset, with intellectual disability|Parkinsonism, early-onset, with mental retardation	http://purl.obolibrary.org/obo/MONDO_0010709	Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.	UMLS:C0796195|ORPHA:2379|MESH:C537179|http://identifiers.org/omim/311510|SNOMEDCT:716107009|DOID:0111781
MONDO:0010708	Pallister-W syndrome	biolink:Disease	mondo	SCTID:719020006|UMLS:C0796110|ICD10:Q87.8|OMIM:311450|Orphanet:2804|MESH:C538106|GARD:0000358	ordo_malformation_syndrome	median cleft upper lip, intellectual disability and pugilistic facies|W syndrome|Pallister-W syndrome|median cleft upper lip, mental retardation and pugilistic facies|Pallister W syndrome	http://purl.obolibrary.org/obo/MONDO_0010708	W syndrome is characterised by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant.	SNOMEDCT:719020006|UMLS:C0796110|MESH:C538106|http://identifiers.org/omim/311450|ORPHA:2804
MONDO:0009739	infantile neuroaxonal dystrophy	biolink:Disease	mondo	Orphanet:35069|ICD9:330.8|SCTID:52713000|GARD:0003957|NCIT:C84927|ICD10:G23.0|MESH:C536071	ordo_disease|gard_rare	Hunter-Carpenter-McDonald syndrome|KARAK syndrome, included|plan|INAD1|inaD|infantile neuroaxonal dystrophy|infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy|phospholipase A2-associated neurodegeneration|Seitelberger disease	http://purl.obolibrary.org/obo/MONDO_0009739	Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two.	http://identifiers.org/omim/256600|SNOMEDCT:52713000|ORPHA:35069|NCIT:C84927|MESH:C536071
MONDO:0009738	sialidosis type 2	biolink:Disease	mondo	DOID:3343|MESH:C562606|ICD10:E77.1|OMIM:256150|UMLS:C0268232|SCTID:52186006|UMLS:CN206285|GARD:0007183|OMIM:256550|Orphanet:87876|UMLS:C3888317|NCIT:C125596|SCTID:81896006	ordo_disease	sialidosis|neuraminidase deficiency|sialidosis, type II|ML1|Neu1 deficiency|neuraminidase 1 deficiency|mucolipidosis I|glycoprotein neuraminidase deficiency|glycoproteinosis|sialidosis type II|mucolipidosis type I|myoclonus--cherry Red spot syndrome|sialidase deficiency|nephrosialidosis|mucolipidosis type 1|Neug deficiency|cherry Red spot--myoclonus syndrome|ML 1|sialidosis, type 2|dysmorphic sialidosis|NEU1 sialidosis|Neu deficiency|dysmorphic sialidosis with renal involvement|sialidosis caused by mutation in NEU1|sialidosis, type 1|mucolipidosis 1|lipomucopolysaccharidosis|NEU 1 deficiency|infantile dysmorphic sialidosis	http://purl.obolibrary.org/obo/MONDO_0009738	Sialidosis type 2 (ST-2) is a rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations.	DOID:3343|UMLS:CN206285|NCIT:C125596|SNOMEDCT:81896006|MESH:C562606|SNOMEDCT:52186006|UMLS:C0268232|UMLS:C3888317|ORPHA:87876|http://identifiers.org/omim/256150|http://identifiers.org/omim/256550
MONDO:0009737	galactosialidosis	biolink:Disease	mondo	ICD9:277.6|NCIT:C129928|OMIM:256540|ICD10:E77.1|Orphanet:351|GARD:0003953|MESH:C536411|SCTID:35691006|DOID:0080540|UMLS:C0268233	ordo_disease|gard_rare	neuraminidase/Beta-galactosidase expression|galactosialidosis; GSL|neuraminidase deficiency with beta-galactosidase deficiency|neuraminidase deficiency with beta-galactosidase deficiency|lysosomal protective Protein deficiency|GSL|protective Protein/Cathepsin a deficiency|cathepsin A deficiency|PPCA deficiency|cathepsin A deficiency of|galactosialidosis|Goldberg syndrome|lysosomal protective protein deficiency of	http://purl.obolibrary.org/obo/MONDO_0009737	Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.	UMLS:C0268233|DOID:0080540|ORPHA:351|NCIT:C129928|http://identifiers.org/omim/256540|MESH:C536411|SNOMEDCT:35691006
MONDO:0009736	Neu-Laxova syndrome 1	biolink:Disease	mondo	DOID:0080076|UMLS:CN032230|ICD10:Q87.8|OMIM:256520		3-Phosphoglycerate dehydrogenase deficiency, neonatal form|PHGDH Neu-Laxova syndrome|Neu-Laxova syndrome type 1|Neu-Laxova syndrome caused by mutation in PHGDH|NLS1|Neu-Laxova syndrome 1; NLS1|Neu-Laxova syndrome|Neu-Laxova syndrome 1	http://purl.obolibrary.org/obo/MONDO_0009736	Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene.	UMLS:CN032230|DOID:0080076|http://identifiers.org/omim/256520
MONDO:0009735	Netherton syndrome	biolink:Disease	mondo	DOID:0050474|MedDRA:10062909|OMIM:256500|ICD10:Q80.8|Orphanet:634|SCTID:312514006|MESH:D056770|GARD:0007182|NCIT:C84922	ordo_disease|gard_rare	CoMèl-Netherton syndrome|Comèl-Netherton syndrome|Netherton disease|Netherton syndrome; neth|Netherton syndrome|neth|Ns|NS|bamboo hair syndrome|Comel-Netherton syndrome|erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE	http://purl.obolibrary.org/obo/MONDO_0009735	Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.	MEDDRA:10062909|SNOMEDCT:312514006|NCIT:C84922|MESH:D056770|ORPHA:634|http://identifiers.org/omim/256500|DOID:0050474
MONDO:0009734	hyperinsulinemic hypoglycemia, familial, 1	biolink:Disease	mondo	SCTID:360339005|DOID:0070219|OMIM:256450		ABCC8 hyperinsulinemic hypoglycemia (disease)|hypoglycemia, hyperinsulinemic, of infancy|hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia|Nesidioblastosis of pancreas|hyperinsulinism, congenital|hyperinsulinemic hypoglycemia, familial, 1; HHF1|hyperinsulinemic hypoglycemia, familial, 1|hyperinsulinemic hypoglycemia (disease) caused by mutation in ABCC8|hyperinsulinemic hypoglycemia, familial, type 1|HHF1|hyperinsulinemic hypoglycemia due to SUR1 deficiency|hyperinsulinism, familial, with pancreatic Nesidioblastosis|persistent hyperinsulinemic hypoglycemia of infancy	http://purl.obolibrary.org/obo/MONDO_0009734	Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the ABCC8 gene.	DOID:0070219|SNOMEDCT:360339005|http://identifiers.org/omim/256450
MONDO:0010701	obsolete opticoacoustic nerve atrophy with dementia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0010701		
MONDO:0010700	optic atrophy--spastic paraplegia syndrome	biolink:Disease	mondo	MESH:C564084|OMIM:311100|UMLS:C1839565		optic atrophy--spastic paraplegia syndrome	http://purl.obolibrary.org/obo/MONDO_0010700		http://identifiers.org/omim/311100|UMLS:C1839565|MESH:C564084
MONDO:0009733	nephrotic syndrome, type 4	biolink:Disease	mondo	OMIM:256370|NCIT:C121198|GARD:0003547|DOID:0080383	clingen	nephrotic syndrome caused by mutation in WT1|diffuse isolated mesangial sclerosis|NPHS4|mesangial sclerosis, diffuse|nephrotic syndrome, early onset with diffuse mesangial sclerosis|WT1 nephrotic syndrome|DMS|diffuse mesangial sclerosis|familial mesangial sclerosis|congenital nephrotic syndrome - diffuse mesangial sclerosis|nephrotic syndrome, type 4; NPHS4|isolated diffuse mesangial sclerosis|nephrotic syndrome, type 4	http://purl.obolibrary.org/obo/MONDO_0009733	Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis.	NCIT:C121198|DOID:0080383|http://identifiers.org/omim/256370
MONDO:0010703	ornithine carbamoyltransferase deficiency	biolink:Disease	mondo	GARD:0008391|ICD10:E72.4|Orphanet:664|UMLS:C0268542|MESH:D020163|NCIT:C84957|EFO:0007409|MedDRA:10052450|OMIM:311250|DOID:9271|SCTID:80908008	ordo_disease|clingen	OCT deficiency|OTC deficiency|OTCD|deficiency of citrulline phosphorylase|ornithine carbamoyltransferase deficiency|ornithine transcarbamylase deficiency, hyperammonemia due to|valproate sensitivity|ornithine transcarbamylase deficiency|ornithine carbamoyltransferase deficiency disease	http://purl.obolibrary.org/obo/MONDO_0010703	Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications.	DOID:9271|MESH:D020163|NCIT:C84957|UMLS:C0268542|http://identifiers.org/omim/311250|SNOMEDCT:80908008|MEDDRA:10052450|ORPHA:664
MONDO:0009732	congenital nephrotic syndrome, Finnish type	biolink:Disease	mondo	MedDRA:10060740|SCTID:197601003|ICD10:N04.8|UMLS:C0403399|OMIM:256300|NCIT:C122795|GARD:0001500|Orphanet:839	clingen|gard_rare|ordo_disease	congenital nephrotic syndrome Finnish type|nephrotic syndrome, type 1; NPHS1|nephrosis 1, congenital, Finnish type|congenital nephrotic syndrome 1|Finnish congenital nephrosis|CnF|nephrosis, congenital|congenital nephrotic syndrome - Finnish type|NPHS1|nephrotic syndrome, type 1|nephrotic syndrome - NPHS1 associated|nephrotic syndrome, congenital	http://purl.obolibrary.org/obo/MONDO_0009732	Congenital nephrotic syndrome, Finnish type is characterised by protein loss beginning during foetal life.	SNOMEDCT:197601003|MEDDRA:10060740|NCIT:C122795|http://identifiers.org/omim/256300|ORPHA:839|UMLS:C0403399|MESH:C535761
MONDO:0010702	orofaciodigital syndrome I	biolink:Disease	mondo	UMLS:C2698658|GARD:0004121|DOID:0060316|Orphanet:2750|SCTID:763833006|NCIT:C75481|UMLS:C1510460|OMIM:311200|ICD10:Q87.0	ordo_malformation_syndrome	OFDI|OFD syndrome 1|Papillon-Leage-Psaume syndrome|orofaciodigital syndrome I|orofaciodigital syndrome I; OFD1|Papillon-Leage and Psaume syndrome|oral-facial-digital syndrome, type 1|orofaciodigital syndrome 1|oral facial digital syndrome type 1|orofaciodigital syndrome type I|Papillon-Léage-Psaume syndrome|OFDS 1|oral facial digital syndrome 1|oral-facial-digital syndrome 1|OFDSI|OFD1|oral-facial-digital syndrome type 1|Papillon-league-Psaume syndrome (formerly)|orofaciodigital syndrome type 1	http://purl.obolibrary.org/obo/MONDO_0010702	Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.	UMLS:C2931426|http://identifiers.org/omim/311200|ORPHA:2750|NCIT:C75481|SNOMEDCT:763833006|DOID:0060316|UMLS:C2698658|UMLS:C1510460
MONDO:0009731	nephrosis-deafness-urinary tract-digital malformations syndrome	biolink:Disease	mondo	ICD10:Q87.8|UMLS:C1850552|OMIM:256200|MESH:C536402|GARD:0003943|Orphanet:2669	ordo_malformation_syndrome	nephrosis with deafness and urinary tract and digital malformations|Braun-Bayer syndrome|nephrosis deafness urinary tract digital malformation	http://purl.obolibrary.org/obo/MONDO_0009731	Nephrosis-deafness-urinary tract-digital malformations syndrome is characterised by anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant.	UMLS:C1850552|ORPHA:2669|http://identifiers.org/omim/256200|MESH:C536402
MONDO:0010705	ouabain resistance	biolink:Disease	mondo	OMIM:311350		OUBR|ouabain resistance|ouabain resistance; OUBR	http://purl.obolibrary.org/obo/MONDO_0010705		http://identifiers.org/omim/311350
MONDO:0009730	obsolete nephrosialidosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0009730		
MONDO:0010704	otopalatodigital syndrome type 1	biolink:Disease	mondo	ICD9:759.89|Orphanet:90650|DOID:0111783|OMIM:311300|NCIT:C118845|GARD:0005121|ICD10:Q87.0|SCTID:54036001	ordo_clinical_subtype	Taybi syndrome|otopalatodigital syndrome, type I; OPD1|OPD 1 syndrome|otopalatodigital spectrum disorder|otopalatodigital syndrome, type I|OPD I syndrome|OPD syndrome|oto-palato-digital syndrome type 1|OPD1|otopalatodigital syndrome, type 1|OPD syndrome 1|frontootopalatodigital osteodysplasia	http://purl.obolibrary.org/obo/MONDO_0010704	Otopalatodigital syndrome type 1 (OPD1) is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.	http://identifiers.org/omim/311300|SNOMEDCT:54036001|NCIT:C118845|ORPHA:90650|DOID:0111783
NCBITaxon:451507	Mucoromycotina	organism taxon	mondo	PMID:17572334|PMID:17051209|GC_ID:1|PMID:17010206|PMID:14715234|PMID:27738200		Zygomycota	http://purl.obolibrary.org/obo/NCBITaxon_451507		
MONDO:0010707	Paine syndrome	biolink:Disease	mondo	MESH:C538101|OMIM:311400|GARD:0009780|UMLS:C1412041	gard_rare	Paine syndrome|microcephaly with spastic diplegia|Seemanova syndrome 1	http://purl.obolibrary.org/obo/MONDO_0010707		UMLS:C1412041|MESH:C538101|http://identifiers.org/omim/311400
MONDO:0010706	premature ovarian failure 1	biolink:Disease	mondo	ICD9:256.39|GARD:0004480|OMIM:311360		premature ovarian failure type 1|FMR1-related premature ovarian failure|familial premature ovarian failure|fragile X-associated primary ovarian insufficiency|idiopathic familial premature ovarian failure|ovarian failure, premature|primary ovarian failure caused by mutation in FMR1|premature ovarian failure, X-linked|hypergonadotropic ovarian failure, X-linked|Pof1|FMR1-related primary ovarian insufficiency|premature ovarian failure 1|premature ovarian failure 1; Pof1|FMR1 primary ovarian failure	http://purl.obolibrary.org/obo/MONDO_0010706	Any primary ovarian failure in which the cause of the disease is a mutation in the FMR1 gene.	http://identifiers.org/omim/311360
UBERON:0006596	presumptive blood	biolink:AnatomicalEntity	mondo			future blood	http://purl.obolibrary.org/obo/UBERON_0006596		
NCBITaxon:186540	Sudan ebolavirus	organism taxon	mondo	GC_ID:1		SEBOV|SUDV|Ebolavirus Sudan|Sudan Ebola virus	http://purl.obolibrary.org/obo/NCBITaxon_186540		
UBERON:0006595	presumptive endoderm	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006595	Presumptive structure of the blastula that will develop into endoderm.	
UBERON:0006592	transformed vein	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006592	A remnant of embryonic structure that develops_from a vein.	
MONDO:0010710	Pierre Robin syndrome-faciodigital anomaly syndrome	biolink:Disease	mondo	MESH:C535926|OMIM:311895|Orphanet:2888|SCTID:723461007|UMLS:C2931064|GARD:0001274|ICD10:Q87.8	ordo_malformation_syndrome|gard_rare	Robin sequence with facial and digital anomalies|Chitayat-Meunier-Hodgkinson syndrome|Chitayat Meunier Hodgkinson syndrome|Pierre Robin sequence-faciodigital anomaly syndrome|Pierre Robin syndrome, faciodigital anomaly|Pierre Robin sequence with facial and digital anomalies	http://purl.obolibrary.org/obo/MONDO_0010710	This syndrome is characterised by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints).Growth and mental development were normal.	SNOMEDCT:723461007|ORPHA:2888|http://identifiers.org/omim/311895|UMLS:C2931064|MESH:C535926
UBERON:0006591	transformed artery	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006591	A remnant of embryonic structure that develops_from a artery.	
UBERON:0006590	remnant of embryonic structure	biolink:AnatomicalEntity	mondo			vestigial embryonic structure	http://purl.obolibrary.org/obo/UBERON_0006590	A vestigial structure that is a remnant of an embryonic structure that remains in the adult organism.	
UBERON:0006598	presumptive structure	biolink:AnatomicalEntity	mondo			future structure|presumptive structures	http://purl.obolibrary.org/obo/UBERON_0006598	Portion of embryonic tissue determined by fate mapping to become a structure.	
MONDO:0009709	myopathy, centronuclear, 2	biolink:Disease	mondo	OMIM:255200|MESH:C562934|DOID:0111220		centronuclear myopathy caused by mutation in BIN1|BIN1 centronuclear myopathy|myopathy, centronuclear, 2; CNM2|CNM2|myopathy, centronuclear, type 2|myopathy, centronuclear, 2|myotubular myopathy, autosomal recessive|myopathy, centronuclear, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009709	Any centronuclear myopathy in which the cause of the disease is a mutation in the BIN1 gene.	DOID:0111220|http://identifiers.org/omim/255200|MESH:C562934
MONDO:0009708	myopathy, myosin storage, autosomal recessive	biolink:Disease	mondo	MESH:C564970|OMIM:255160|UMLS:C1850709|DOID:0111268		myopathy, myosin storage, autosomal recessive; MSMB|myopathy, myosin storage, autosomal recessive|MSMB|myopathy, hyaline body, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009708		UMLS:C1850709|DOID:0111268|http://identifiers.org/omim/255160|MESH:C564970
MONDO:0009707	myopathy with giant abnormal mitochondria	biolink:Disease	mondo	MESH:C564971|OMIM:255140|UMLS:C1850717		myopathy with giant abnormal mitochondria	http://purl.obolibrary.org/obo/MONDO_0009707		http://identifiers.org/omim/255140|MESH:C564971|UMLS:C1850717
MONDO:0009706	hereditary myopathy with lactic acidosis due to ISCU deficiency	biolink:Disease	mondo	Orphanet:43115|MESH:C564972|ICD9:259.8|ICD10:G71.3|OMIM:255125|SCTID:699268002|UMLS:C1850718	ordo_disease	HML|myopathy with deficiency of succinate dehydrogenase and aconitase|aconitase deficiency|myopathy with exercise intolerance, Swedish type|iron-sulfur cluster deficiency myopathy|myoglobinuria due to abnormal glycolysis|myopathy with lactic acidosis, hereditary|myopathy with lactic acidosis, hereditary; HML|ISCU myopathy	http://purl.obolibrary.org/obo/MONDO_0009706	Aconitase deficiency is characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.	SNOMEDCT:699268002|ORPHA:43115|http://identifiers.org/omim/255125|MESH:C564972|UMLS:C1850718
MONDO:0009705	carnitine palmitoyl transferase 1A deficiency	biolink:Disease	mondo	UMLS:C1829703|ICD9:277.85|HGNC:2328|MESH:C535588|OMIM:255120|GARD:0001120|SCTID:238001003|DOID:0090129|NCIT:C98871|ICD10:E71.3|Orphanet:156	ordo_disease|gard_rare|clingen	disorder of carnitine cycle and carnitine transport caused by mutation in CPT1A|L-CPTI deficiency|hepatic carnitine palmitoyl transferase I deficiency|CPT deficiency, hepatic, type 1|L-CPT 1 deficiency|Carnitine palmitoyltransferase 1A deficiency|carnitine palmitoyl transferase IA deficiency|CPT I deficiency|hepatic carnitine palmitoyltransferase 1 deficiency|Carnitine palmitoyl transferase 1 deficiency|Carnitine palmitoyl transferase IA deficiency|L-CPT1 deficiency|CPT1A deficiency|hepatic carnitine palmitoyl transferase 1 deficiency|CPT 1 deficiency|Carnitine Palmitoyltransferase 1A deficiency|Carnitine Palmitoyltransferase 1 deficiency|hepatic CPT1|CPT1A disorder of carnitine cycle and carnitine transport|hepatic CPT deficiency type I|carnitine palmitoyl transferase 1A deficiency|carnitine palmitoyltransferase I deficiency	http://purl.obolibrary.org/obo/MONDO_0009705	Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.	ORPHA:156|SNOMEDCT:238001003|http://identifiers.org/omim/255120|DOID:0090129|MESH:C535588|NCIT:C98871|UMLS:C1829703
MONDO:0009704	carnitine palmitoyl transferase II deficiency, myopathic form	biolink:Disease	mondo	MESH:C563461|UMLS:C1833508|ICD10:E71.3|OMIM:255110|Orphanet:228302	ordo_clinical_subtype	CPTII, adult-onset form|CPTII, myopathic form|Carnitine Palmitoyltransferase 2 deficiency, myopathic, stress-induced|CARNITINE PALMITOYLTRANSFERASE II deficiency, myopathic, stress-induced|Carnitine palmitoyl transferase II deficiency, adult-onset form|CARNITINE PALMITOYLTRANSFERASE II deficiency, late-onset|Carnitine Palmitoyltransferase 2 deficiency, myopathic|CPT 2 deficiency, myopathic|Cpt2 deficiency, late-onset|CPT2, adult-onset form|Carnitine Palmitoyltransferase 2 deficiency, adult-onset|Carnitine palmitoyl transferase deficiency type 2, adult-onset form|CPT2, myopathic form|Carnitine palmitoyl transferase deficiency type 2, myopathic form	http://purl.obolibrary.org/obo/MONDO_0009704	The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency.	http://identifiers.org/omim/255110|MESH:C563461|ORPHA:228302|UMLS:C1833508
MONDO:0009703	myopathy with abnormal lipid metabolism	biolink:Disease	mondo	OMIM:255100		LIPID storage myopathy due to flavin adenine dinucleotide synthetase deficiency; LSMFLAD|lipid storage myopathy|LSMFLAD|lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency|myopathy with abnormal lipid metabolism	http://purl.obolibrary.org/obo/MONDO_0009703		http://identifiers.org/omim/255100
MONDO:0009702	myopathy due to malate-aspartate shuttle defect	biolink:Disease	mondo	UMLS:C1850744|OMIM:254960|MESH:C564973		myopathy due to malate-aspartate shuttle defect	http://purl.obolibrary.org/obo/MONDO_0009702		MESH:C564973|http://identifiers.org/omim/254960|UMLS:C1850744
MONDO:0009701	myopathy, granulovacuolar lobular, with electrical myotonia	biolink:Disease	mondo	UMLS:C1850745|OMIM:254950|MESH:C564974		myopathy, granulovacuolar lobular, with electrical myotonia	http://purl.obolibrary.org/obo/MONDO_0009701		MESH:C564974|http://identifiers.org/omim/254950|UMLS:C1850745
MONDO:0009700	Carey-Fineman-Ziter syndrome	biolink:Disease	mondo	ICD9:359.89|OMIM:254940|UMLS:C1850746|MESH:C536102|DOID:0080194|Orphanet:1358|SCTID:429753001|GARD:0003889|ICD10:Q87.0	gard_rare|ordo_malformation_syndrome	Carey-Fineman-Ziter syndrome|congenital nonprogressive myopathy with Moebius and Robin sequences|Carey Fineman Ziter syndrome|CFZ syndrome|CFZS|myopathy, congenital nonprogressive, with Moebius sequence and Robin sequence|Moebius sequence, Robin complex, and hypotonia|Carey-Fineman-Ziter syndrome; CFZS|myopathy-Moebius-Robin syndrome|myopathy, congenital nonprogressive with Moebius and Robin sequences	http://purl.obolibrary.org/obo/MONDO_0009700	Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.	SNOMEDCT:429753001|http://identifiers.org/omim/254940|UMLS:C1850746|DOID:0080194|ORPHA:1358|MESH:C536102
FOODON:00001293	shellfish food product	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00001293		
UBERON:0006585	vestibular organ	biolink:AnatomicalEntity	mondo			balance organ	http://purl.obolibrary.org/obo/UBERON_0006585	An organ that is part of a vestibular system.	
HGNC:4795	H6PD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4795		
HGNC:4796	HAAO	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4796		
HGNC:4798	HABP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4798		
HGNC:4799	HADH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4799		
HP:0002270	Abnormality of the autonomic nervous system	biolink:PhenotypicFeature	mondo	UMLS:C4025714			http://purl.obolibrary.org/obo/HP_0002270	An abnormality of the autonomic nervous system.	
NCBITaxon:6340	Annelida	organism taxon	mondo	GC_ID:1		segmented worms|annelid worms	http://purl.obolibrary.org/obo/NCBITaxon_6340		
HGNC:2135	SBF2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2135		
UBERON:0006589	round ligament of uterus	biolink:AnatomicalEntity	mondo			ligamentum teres of uterus|round ligament|round ligament of the uterus|ligamentum teres uteri|Hunter's ligament|ligamentum teres uteri	http://purl.obolibrary.org/obo/UBERON_0006589	The round ligament of the uterus originates at the uterine horns, in the parametrium. It leaves the pelvis via the deep inguinal ring, passes through the inguinal canal and continues on to the labia majora where its fibers spread and mix with the tissue of the mons pubis[WP]. A fibromuscular band that attaches to the uterus and then passes along the broad ligament, out through the inguinal ring, and into the labium majus[MESH].	
CHEBI:33709	amino acid	biolink:ChemicalSubstance	mondo			amino acids|Aminokarbonsaeure|Aminosaeure|Aminocarbonsaeure	http://purl.obolibrary.org/obo/CHEBI_33709	A carboxylic acid containing one or more amino groups.	
MONDO:0009719	familial atrial myxoma	biolink:Disease	mondo	ICD10:D15.1|SCTID:233855002|UMLS:C1850635|Orphanet:615|MESH:C538262|OMIM:255960|GARD:0000139	ordo_disease|gard_rare	intracardiac myxoma|MYXOMA, intracardiac|atrial Myxoma, familial	http://purl.obolibrary.org/obo/MONDO_0009719		ORPHA:615|http://identifiers.org/omim/255960|MESH:C538262|UMLS:C1850635|SNOMEDCT:233855002
MONDO:0009718	myxedema	biolink:Disease	mondo	ICD10:E03.9|DOID:11634|OMIM:255900|NCIT:C34834|UMLS:C0027145|EFO:1001055|MedDRA:10028663|MESH:D009230|SCTID:43153006		myxedema	http://purl.obolibrary.org/obo/MONDO_0009718	A condition characterized by severe hypothyroidism that is caused by autoimmune thyroid gland disorders, surgical reduction of thyroid tissue, radiation exposure, and viral infections. Signs and symptoms include generalized fatigue, lethargy, increased body weight, pale, edematous and thickened skin, low blood pressure, constipation and cold intolerance.	NCIT:C34834|http://identifiers.org/omim/255900|DOID:11634|UMLS:C0027145|SNOMEDCT:43153006|MESH:D009230
MONDO:0009717	Schwartz-Jampel syndrome	biolink:Disease	mondo	UMLS:C0036391|ICD10:G71.1|Orphanet:800|SCTID:29145002|ICD9:759.89|ICD10:Q78.8|NCIT:C35008|GARD:0000250|DOID:0090005|OMIM:255800	prototype_pattern|ordo_disease	Schwartz-Jampel syndrome, type 1; SJS1|Schwartz-Jampel syndrome, type 1|Catel-Hempel type dysostosis enchondralis metaepiphysaria|Schwartz-Jampel-Aberfeld syndrome|myotonic myopathy, dwarfism, chondrodystrophy, and ocular and Facial abnormalities|Osteochondromuscular dystrophy|Schwartz-Jampel syndrome|Schwartz-Jampel syndrome 1|burton syndrome|Aberfeld syndrome|SJS1|SJS|Catel-Hempel syndrome|osteochondromuscular dystrophy|myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities|burton skeletal dysplasia|dysostosis enchondralis metaepiphysaria, Catel-Hempel type|myotonic chondrodystrophy|Sja syndrome|Schwartz-Jampel syndrome type 1|myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies|Chondrodystrophic myotonia|Schwartz Jampel Aberfeld syndrome|Schwartz Jampel syndrome	http://purl.obolibrary.org/obo/MONDO_0009717	Schwartz-Jampel syndrome (SJS) is characterised by myotonia and osteoarticular abnormalities.	UMLS:C0036391|DOID:0090005|ORPHA:800|SNOMEDCT:29145002|http://identifiers.org/omim/255800|NCIT:C35008
MONDO:0009716	Richieri Costa-da Silva syndrome	biolink:Disease	mondo	Orphanet:3101|ICD10:Q87.8|UMLS:C2930978|OMIM:255710|GARD:0004709|MESH:C535675	ordo_malformation_syndrome|gard_rare	myotonia-intellectual disability-skeletal anomalies syndrome|myotonia with skeletal abnormalities and mental retardation|Richieri Costa Da Silva syndrome|myotonia with skeletal abnormalities and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0009716		MESH:C535675|http://identifiers.org/omim/255710|ORPHA:3101|UMLS:C2930978
MONDO:0009715	myotonia congenita, autosomal recessive	biolink:Disease	mondo	UMLS:C0751360|OMIM:255700		autosomal recessive myotonia congenita|myotonia, generalized|Becker disease|myotonia congenita, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009715	Autosomal recessive form of myotonia congenita.	UMLS:C0751360|http://identifiers.org/omim/255700
MONDO:0009714	myosclerosis	biolink:Disease	mondo	SCTID:763895001|OMIM:255600|Orphanet:289380|ICD10:G71.8|MESH:C564968|MedDRA:10064584	ordo_disease	congenital myosclerosis, Löwenthal type|congenital myosclerosis, LC6wenthal type|myopathy, myosclerotic|myosclerosis, autosomal recessive|myosclerosis, congenital, of Lowenthal	http://purl.obolibrary.org/obo/MONDO_0009714	Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries.	MEDDRA:10064584|http://identifiers.org/omim/255600|MESH:C564968|ORPHA:289380|UMLS:C1611706|SNOMEDCT:763895001
MONDO:0009713	MYP18	biolink:Disease	mondo	MESH:C567606|UMLS:C2749509|OMIM:255500		myopia 18, autosomal recessive; MYP18|MYP18|myopia 18, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0009713		http://identifiers.org/omim/255500|MESH:C567606|UMLS:C2749509
MONDO:0009712	congenital multicore myopathy with external ophthalmoplegia	biolink:Disease	mondo	Orphanet:98905|UMLS:C1850674|NCIT:C150608|OMIM:255320|ICD10:G71.2|GARD:0010316	ordo_clinical_subtype	multicore myopathy|multicore myopathy with external ophthalmoplegia|minicore myopathy with external ophthalmoplegia|multiminicore disease with external ophthalmoplegia|minicore myopathy, antenatal onset, with arthrogryposis|minicore myopathy|multiminicore myopathy multicore myopathy with external ophthalmoplegia	http://purl.obolibrary.org/obo/MONDO_0009712	An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as "minicores" on ATPase staining as a result of focal defects in oxidative activity.	ORPHA:98905|http://identifiers.org/omim/255320|UMLS:C1850674|NCIT:C150608
MONDO:0009711	congenital fiber-type disproportion myopathy	biolink:Disease	mondo	GARD:0006161|OMIM:255310|ICD10:G71.2|NCIT:C120046|UMLS:C0546264|Orphanet:2020	ordo_disease	myopathy, congenital, with fiber-type disproportion; CFTD|congenital myopathy with fibre type disproportion|CFTD|myopathy, congenital with fiber-type disproportion|fiber-type disproportion myopathy, congenital|congenital fiber type disproportion|congenital Fiber-type disproportion|congenital myopathy with fiber type disproportion|CFTDM|congenital Fiber-type disproportion|myopathy, congenital, with fiber-type disproportion	http://purl.obolibrary.org/obo/MONDO_0009711	A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 or SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur.	http://identifiers.org/omim/255310|UMLS:C0546264|ORPHA:2020|NCIT:C120046
CHEBI:33702	polyatomic cation	biolink:ChemicalSubstance	mondo			polyatomic cations	http://purl.obolibrary.org/obo/CHEBI_33702	A cation consisting of more than one atom.	
MONDO:0009710	myotonia congenita	biolink:Disease	mondo	SCTID:57938005|Orphanet:614|ICD10:G71.12|NCIT:C84912|ICD10:G71.1|MESH:D009224|GARD:0012301|OMIM:255300|DOID:2106|UMLS:C0027127|MedDRA:10028655|MedDRA:10043461|ICD9:359.22	ordo_disease	Thomsen's disease|myopathy, congenital|myotonia congenita|Thomsen and Becker disease|congenital myotonia, autosomal dominant form|batten-Turner congenital myopathy|Thomsen disease	http://purl.obolibrary.org/obo/MONDO_0009710	Myotonia congenita is characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres.	http://identifiers.org/omim/255300|DOID:2106|SNOMEDCT:57938005|MEDDRA:10028655|MEDDRA:10043461|NCIT:C84912|UMLS:C0027127|MESH:D009224|UMLS:C2936781|ORPHA:614
CHEBI:33703	amino-acid cation	biolink:ChemicalSubstance	mondo			amino acid cation|amino-acid cations|amino-acid cation	http://purl.obolibrary.org/obo/CHEBI_33703		
CHEBI:33704	alpha-amino acid	biolink:ChemicalSubstance	mondo			alpha-amino acids|Amino acids|alpha-amino acid|Amino acid|alpha-amino carboxylic acids	http://purl.obolibrary.org/obo/CHEBI_33704	An amino acid in which the amino group is located on the carbon atom at the position alpha to the carboxy group.	
NCBITaxon:1535325	Candida/Lodderomyces clade	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1535325		
CHEBI:33708	amino-acid residue	biolink:ChemicalSubstance	mondo			amino-acid residues|amino-acid residue|amino acid residue	http://purl.obolibrary.org/obo/CHEBI_33708	When two or more amino acids combine to form a peptide, the elements of water are removed, and what remains of each amino acid is called an amino-acid residue.	
UBERON:0006574	pectinate line	biolink:AnatomicalEntity	mondo			linea pectinata canalis analis|Hilton's 'white line'|pectinate line of anal canal|linea anocutanea|site of anal membrane|recto-anal junction|dentate line	http://purl.obolibrary.org/obo/UBERON_0006574	The pectinate line (anocutaneous line, dentate line, anorectal junction) is a line which divides the upper 2/3rds and lower 1/3rd of the anal canal. Developmentally, this line represents the hindgut-proctodeum junction. It is an important anatomical landmark, and several distinctions can be made based upon the location of a structure relative to this line:	
NCBITaxon:1535326	Candida <clade Candida/Lodderomyces clade>	organism taxon	mondo	GC_ID:1		Candida	http://purl.obolibrary.org/obo/NCBITaxon_1535326		
CHEBI:33700	proteinogenic amino-acid residue	biolink:ChemicalSubstance	mondo			common amino acid residues|canonical amino-acid residue|canonical amino-acid residues|proteinogenic amino-acid residues|standard amino-acid residues|standard amino acid residues	http://purl.obolibrary.org/obo/CHEBI_33700		
HP:0100639	Erectile dysfunction	biolink:PhenotypicFeature	mondo	UMLS:C4022003		Erectile abnormalities|Abnormal erection	http://purl.obolibrary.org/obo/HP_0100639	A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological.	
HGNC:2148	CNGA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2148		
NCBITaxon:78536	Euphyllophyta	organism taxon	mondo	GC_ID:1		euphyllophytes	http://purl.obolibrary.org/obo/NCBITaxon_78536		
MONDO:0044098	ovarian ectopic pregnancy	biolink:Disease	mondo	NCIT:C92945|MESH:D065172|SCTID:9899009		ovarian Pregnancies|ovarian pregnancy|ovary ectopic pregnancy|ectopic pregnancy of ovary|Pregnancies, ovarian	http://purl.obolibrary.org/obo/MONDO_0044098	An abnormal pregnancy in which the conception is implanted on the ovary.	MESH:D065172|NCIT:C92945|SNOMEDCT:9899009
MONDO:0044092	collagenous sprue	biolink:Disease	mondo	SCTID:61738006|NCIT:C45426|UMLS:C0341299|MESH:D064068		Sprues, collagenous|non-gluten sensitive enteropathy syndrome|collagenous Sprues|collagenous enteropathy syndrome|collagenous sprue|sprue, collagenous|collagenous enteropathy|non-gluten intolerance syndrome	http://purl.obolibrary.org/obo/MONDO_0044092	A rare disorder affecting the digestive tract. Its cause is unclear but may be attributed, in part, to increased collagen synthesis without adequate fibrolysis. It is characterized histologically by atrophy of mucosal villi and crypts with extensive subepithelial collagen deposition. Clinical signs include nausea, vomiting, diarrhea and weight loss. Unlike celiac sprue (celiac disease), a gluten-free diet does not predict a certain regression of the disease. The clinical course follows a progression of malabsorption leading to nutritional deficiencies, small bowel ulceration/perforation, lymphoma and infection. Prognosis is usually dismal.	NCIT:C45426|UMLS:C0341299|MESH:D064068|SNOMEDCT:61738006
GO:0005578		biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0005578		
GO:0005579	membrane attack complex	biolink:OntologyClass	mondo			TCC|membrane attack complex protein beta2 chain|MAC|membrane attack complex protein alphaM chain|terminal complement complex	http://purl.obolibrary.org/obo/GO_0005579	A protein complex produced by sequentially activated components of the complement cascade inserted into a target cell membrane and forming a pore leading to cell lysis via ion and water flow.	
GO:0005576	extracellular region	biolink:OntologyClass	mondo			extracellular	http://purl.obolibrary.org/obo/GO_0005576	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.	
GO:0005575	cellular_component	biolink:OntologyClass	mondo			cell or subcellular entity|cellular component|subcellular entity	http://purl.obolibrary.org/obo/GO_0005575	A location, relative to cellular compartments and structures, occupied by a macromolecular machine when it carries out a molecular function. There are two ways in which the gene ontology describes locations of gene products: (1) relative to cellular structures (e.g., cytoplasmic side of plasma membrane) or compartments (e.g., mitochondrion), and (2) the stable macromolecular complexes of which they are parts (e.g., the ribosome).	
GO:0005589	collagen type VI trimer	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0005589	A collagen heterotrimer containing type VI alpha chains in alpha1(VI)alpha2(VI)alpha3(VI) trimers; type VI collagen triple helices associate to form beaded fibrils.	
GO:0030521	androgen receptor signaling pathway	biolink:OntologyClass	mondo			androgen receptor signalling pathway	http://purl.obolibrary.org/obo/GO_0030521	Any series of molecular signals generated as a consequence of an androgen binding to its receptor.	
GO:0030522	intracellular receptor signaling pathway	biolink:OntologyClass	mondo			intracellular receptor mediated signaling pathway|intracellular receptor-mediated signaling pathway|intracellular receptor-mediated signalling pathway	http://purl.obolibrary.org/obo/GO_0030522	Any series of molecular signals initiated by a ligand binding to an receptor located within a cell.	
GO:0005585	collagen type II trimer	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0005585	A collagen homotrimer of alpha1(II) chains; type II collagen triple helices associate to form fibrils.	
GO:0005583	fibrillar collagen trimer	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0005583	Any triple helical collagen trimer that forms fibrils.	
GO:0005581	collagen trimer	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0005581	A protein complex consisting of three collagen chains assembled into a left-handed triple helix. These trimers typically assemble into higher order structures.	
HP:0004841	Reduced factor XII activity	biolink:PhenotypicFeature	mondo	UMLS:C0015526|SNOMEDCT_US:46981006|MSH:D005175		Factor XII deficiency|Hageman factor deficiency	http://purl.obolibrary.org/obo/HP_0004841	Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade.	
CHEBI:18186	tyrosine	biolink:ChemicalSubstance	mondo			Tyrosin|2-amino-3-(4-hydroxyphenyl)propanoic acid|2-Amino-3-(p-hydroxyphenyl)propionic acid|tyrosine|Tyrosine|Tyr|tirosina|Y|3-(p-Hydroxyphenyl)alanine	http://purl.obolibrary.org/obo/CHEBI_18186	An alpha-amino acid that is phenylalanine bearing a hydroxy substituent at position 4 on the phenyl ring.	
GO:0030518	intracellular steroid hormone receptor signaling pathway	biolink:OntologyClass	mondo			steroid hormone receptor signalling pathway|steroid hormone receptor signaling pathway	http://purl.obolibrary.org/obo/GO_0030518	A series of molecular signals generated as a consequence of a intracellular steroid hormone receptor binding to one of its physiological ligands.	
MONDO:0020096	autosomal recessive isolated diffuse palmoplantar keratoderma	biolink:Disease	mondo	Orphanet:98356|UMLS:CN229269|ICD10:Q82.8	ordo_group_of_disorders	autosomal recessive isolated diffuse palmoplantar hyperkeratosis|isolated diffuse palmoplantar keratoderma, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0020096	Autosomal recessive form of isolated diffuse palmoplantar keratoderma.	UMLS:CN229269|ORPHA:98356
MONDO:0020095	autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature	biolink:Disease	mondo	Orphanet:98353|UMLS:CN206999|ICD10:Q82.8	ordo_group_of_disorders|obsoletion_candidate	autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature|disease with focal palmoplantar keratoderma as a major feature, autosomal dominant|autosomal dominant disease with focal palmoplantar keratoderma as a major feature	http://purl.obolibrary.org/obo/MONDO_0020095	Autosomal dominant form of disease with focal palmoplantar keratoderma as a major feature.	ORPHA:98353|UMLS:CN206999
MONDO:0020094	autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature	biolink:Disease	mondo	Orphanet:98352|UMLS:CN206998|ICD10:Q82.8	ordo_group_of_disorders|obsoletion_candidate	autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature|disease with diffuse palmoplantar keratoderma as a major feature, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0020094	Autosomal dominant form of disease with diffuse palmoplantar keratoderma as a major feature.	ORPHA:98352|UMLS:CN206998
MONDO:0020093	autosomal dominant isolated diffuse palmoplantar keratoderma	biolink:Disease	mondo	ICD10:Q82.8|Orphanet:98349|UMLS:CN229268	ordo_group_of_disorders	isolated diffuse palmoplantar keratoderma, autosomal dominant|autosomal dominant isolated diffuse palmoplantar hyperkeratosis	http://purl.obolibrary.org/obo/MONDO_0020093	Autosomal dominant form of isolated diffuse palmoplantar keratoderma.	ORPHA:98349|UMLS:CN229268
MONDO:0020092	rare idiopathic male infertility	biolink:Disease	mondo	ICD10:N46|UMLS:CN227777|Orphanet:98345	ordo_disease|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0020092		UMLS:CN227777|ORPHA:98345
MONDO:0020091	male infertility due to obstructive azoospermia	biolink:Disease	mondo	ICD10:N46|Orphanet:98343	ordo_group_of_disorders	Male infertility due to impaired sperm transport	http://purl.obolibrary.org/obo/MONDO_0020091		ORPHA:98343
MONDO:0020090	male infertility due to gonadal dysgenesis	biolink:Disease	mondo	Orphanet:98313	ordo_group_of_disorders	Male infertility due to testicular dysgenesis	http://purl.obolibrary.org/obo/MONDO_0020090		ORPHA:98313
MONDO:0020099	inherited sideroblastic anemia	biolink:Disease	mondo	Orphanet:98362|ICD10:D64.0|OMIMPS:300751	ordo_group_of_disorders	constitutional sideroblastic anemia	http://purl.obolibrary.org/obo/MONDO_0020099		ORPHA:98362
MONDO:0020098	constitutional anemia due to iron metabolism disorder	biolink:Disease	mondo	ICD10:D50.8|Orphanet:98360|UMLS:CN227778	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020098		UMLS:CN227778|ORPHA:98360
MONDO:0020097	autosomal recessive disease with focal palmoplantar keratoderma as a major feature	biolink:Disease	mondo	ICD10:Q82.8|UMLS:CN207000|Orphanet:98357	obsoletion_candidate|ordo_group_of_disorders	disease with focal palmoplantar keratoderma as a major feature, autosomal recessive|autosomal recessive disease with focal palmoplantar hyperkeratosis as a major feature	http://purl.obolibrary.org/obo/MONDO_0020097	Autosomal recessive form of disease with focal palmoplantar keratoderma as a major feature.	ORPHA:98357|UMLS:CN207000
UBERON:0006518	right lung lobe	biolink:AnatomicalEntity	mondo			lobe of right lung|lobe of the right lung	http://purl.obolibrary.org/obo/UBERON_0006518	A lobe of lung that is part of a right lung.	
PATO:0000048	hardness	biolink:OntologyClass	mondo			impenetrability|toughness	http://purl.obolibrary.org/obo/PATO_0000048	A physical quality inhering in a bearer by virtue of the bearer's resistance to pressure, being broken, or pierced	
UBERON:0006526	right lung alveolar system	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006526		
UBERON:0006525	left lung alveolar system	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0006525		
UBERON:0006524	alveolar system	biolink:AnatomicalEntity	mondo			bronchoalveolar system|pulmonary alveolar system	http://purl.obolibrary.org/obo/UBERON_0006524	System pertaining to a bronchus and alveoli.	
BSPO:0000121	in_right_side_of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BSPO_0000121	X in_right_side_of Y <=> if Y is subdivided into left and right portions, X is part_of the right portion.	
BSPO:0000120	in_left_side_of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BSPO_0000120	X in_left_side_of Y <=> if Y is subdivided into left and right portions, X is part_of the left portion.	
BSPO:0000123	in_anterior_side_of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BSPO_0000123	X anterior_side_of Y <=> if Y is subdivided into two anterior and posterior portions, X is part_of the anterior portion.	
BSPO:0000122	in_posterior_side_of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BSPO_0000122	X posterior_side_of Y <=> if Y is subdivided into two anterior and posterior portions, X is part_of the posterior portion.	
BSPO:0000125	in_distal_side_of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BSPO_0000125	X distal_side_of Y <=> if Y is subdivided into distal and proximal portions, X is part_of the distal portion.	
BSPO:0000124	in_proximal_side_of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BSPO_0000124	X proximal_side_of Y <=> if Y is subdivided into distal and proximal portions, X is part_of the proximal portion.	
BSPO:0000126	in_lateral_side_of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BSPO_0000126	X in_lateral_side_of Y <=> if X is in_left_side_of Y or X is in_right_side_of Y. X is often, but not always a paired structure	
MONDO:0044067	candidiasis, invasive	biolink:Disease	mondo	EFO:1001282|NCIT:C116813|MESH:D058365		invasive candidiases|invasive candidiasis|candidiases, invasive	http://purl.obolibrary.org/obo/MONDO_0044067	A fungal infection by any of the Candida species in a sterile body compartment.	MESH:D058365|NCIT:C116813
PATO:0000051	morphology	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0000051	A quality of a single physical entity inhering in the bearer by virtue of the bearer's size or shape or structure.	
HP:0002224	Woolly hair	biolink:PhenotypicFeature	mondo	UMLS:C4072836|UMLS:C4072835|UMLS:C4073292|MEDDRA:10048017|UMLS:C0343073|SNOMEDCT_US:52564001	hposlim_core	Wooly hair|Nappy hair texture|Kinked hair|Kinky hair texture|Afro-textured hair	http://purl.obolibrary.org/obo/HP_0002224	The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.	
PATO:0000052	shape	biolink:OntologyClass	mondo			relational shape quality	http://purl.obolibrary.org/obo/PATO_0000052	A morphological quality inhering in a bearer by virtue of the bearer's ratios of distances between its features (points, edges, surfaces and also holes etc).	
HP:0002227	White eyelashes	biolink:PhenotypicFeature	mondo	UMLS:C1836736|UMLS:C4280578		Pale eyelashes|Blonde eyelashes|White eyelashes|Grey eyelashes|Depigmented eyelashes	http://purl.obolibrary.org/obo/HP_0002227	White color (lack of pigmentation) of the eyelashes.	
HP:0002226	White eyebrow	biolink:PhenotypicFeature	mondo	UMLS:C4280579|UMLS:C1836737|UMLS:C4280580	hposlim_core	Pale eyebrow|White eyebrow|Blonde eyebrow|Grey eyebrow|Hypopigmented eyebrow|Depigmented eyebrow	http://purl.obolibrary.org/obo/HP_0002226	White color (lack of pigmentation) of the eyebrow.	
HGNC:4702	GYPA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4702		
CHEBI:57756	sphingosine(1+)	biolink:ChemicalSubstance	mondo			sphing-4-enine|(2S,3R,4E)-1,3-dihydroxyoctadec-4-en-2-aminium	http://purl.obolibrary.org/obo/CHEBI_57756	The cationic sphingoid resulting from the protonation of the amino group of sphingosine.	
GO:0005515	protein binding	biolink:OntologyClass	mondo			glycoprotein binding|protein amino acid binding	http://purl.obolibrary.org/obo/GO_0005515	Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules).	
MONDO:0044070	candidemia	biolink:Disease	mondo	EFO:1001311|MESH:D058387|UMLS:C0877445|SCTID:432261003		candidemia|Candidemias	http://purl.obolibrary.org/obo/MONDO_0044070	A form of invasive candidiasis where species of candida are present in the blood.	UMLS:C0877445|SNOMEDCT:432261003|MESH:D058387
HGNC:4703	GYPB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4703		
PATO:0000069	deviation(from_normal)	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0000069	A quality inhering in a bearer by virtue of the whether the bearer differs from normal or average.	
HGNC:4704	GYPC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4704		
HGNC:4706	GYS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4706		
HGNC:4707	GYS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4707		
MONDO:0044079	cardio-renal syndrome	biolink:Disease	mondo	NCIT:C123225|SCTID:445236007|MESH:D059347|UMLS:C2242703|EFO:1001262		cardiorenal syndrome|cardio renal syndrome|syndromes, cardio-renal|syndrome, cardio-renal|Reno-Cardiac syndromes|cardiorenal syndromes|Reno Cardiac syndrome|syndrome, Renocardiac|cardio-renal syndromes|syndromes, Renocardiac|Reno-Cardiac syndrome|syndrome, cardiorenal|Renocardiac syndrome|syndromes, cardiorenal|Renocardiac syndromes|syndromes, Reno-Cardiac|syndrome, Reno-Cardiac	http://purl.obolibrary.org/obo/MONDO_0044079	A disorder of the heart and kidneys in which dysfunction of one of the organs induces dysfunction of the other organ.	SNOMEDCT:445236007|MESH:D059347|NCIT:C123225|UMLS:C2242703
NCBITaxon:91561	Artiodactyla	organism taxon	mondo	GC_ID:1		even-toed ungulates|Cetartiodactyla|whales, hippos, ruminants, pigs, camels etc.	http://purl.obolibrary.org/obo/NCBITaxon_91561		
PATO:0000068	qualitative	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0000068		
HGNC:4713	H19	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/4713		
GO:0005518	collagen binding	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0005518	Interacting selectively and non-covalently with collagen, a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. Collagen is highly enriched in glycine (some regions are 33% glycine) and proline, occurring predominantly as 3-hydroxyproline (about 20%).	
PATO:0000060	spatial pattern	biolink:OntologyClass	mondo			pattern|distribution	http://purl.obolibrary.org/obo/PATO_0000060	A spatial quality inhering in a bearer by virtue of the bearer's exhibiting repetition of placement of its parts.	
BSPO:0000100	proximal_to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BSPO_0000100	x proximal_to y iff x is closer to the point of attachment with the body than y.	
BSPO:0000102	ventral_to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BSPO_0000102	x ventral_to y iff x is further along the dorso-ventral axis than y, towards the front. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly).	
MONDO:0044083	alternariosis	biolink:Disease	mondo	SCTID:238436005|EFO:1001893|MESH:D060487		cutaneous alternariosis|dermal Alternariosis|subcutaneous Alternariosis|cutaneous Alternariosis|Alternariosis, cutaneous|Alternarioses|Alternarioses, cutaneous|Alternarioses, subcutaneous|Alternarioses, dermal|dermal Alternarioses|cutaneous Alternarioses|subcutaneous Alternarioses|Alternariosis, dermal|Alternariosis, subcutaneous	http://purl.obolibrary.org/obo/MONDO_0044083	Opportunistic fungal infection by a member of Alternaria genus.	MESH:D060487|SNOMEDCT:238436005
HP:0002209	Sparse scalp hair	biolink:PhenotypicFeature	mondo	UMLS:C1873509|UMLS:C1857042		Sparse scalp hair|Reduced/lack of hair on scalp|Scalp hypotrichosis|Decreased number of scalp follicles|sparse-absent scalp hair|Reduction in the number of scalp follicles|Sparse, thin scalp hair|Thin scalp hair|Scalp hair, thinning|Hypotrichosis on scalp	http://purl.obolibrary.org/obo/HP_0002209	Decreased number of hairs per unit area of skin of the scalp.	
BSPO:0000107	deep_to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BSPO_0000107	Further away from the surface of the organism. Thus, the muscular layer is deep to the skin, but superficial to the intestines.	
BSPO:0000108	superficial_to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/BSPO_0000108	Near the outer surface of the organism. Thus, skin is superficial to the muscle layer.	
HP:0002202	Pleural effusion	biolink:PhenotypicFeature	mondo	UMLS:C0032227|SNOMEDCT_US:60046008|MSH:D010996		Fluid around lungs	http://purl.obolibrary.org/obo/HP_0002202	The presence of an excessive amount of fluid in the pleural cavity.	
HP:0002205	Recurrent respiratory infections	biolink:PhenotypicFeature	mondo	UMLS:C3806482		Frequent respiratory infections|respiratory infections, recurrent|Multiple respiratory infections|Susceptibility to respiratory infections|Recurrent respiratory infections	http://purl.obolibrary.org/obo/HP_0002205	An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.	
HP:0002204	Pulmonary embolism	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:59282003|UMLS:C0034065|MSH:D011655		Blood clot in artery of lung	http://purl.obolibrary.org/obo/HP_0002204	An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery.	
PATO:0000070	amount	biolink:OntologyClass	mondo			quantitative|count in organism|presence|number|presence or absence in organism	http://purl.obolibrary.org/obo/PATO_0000070	The number of entities of this type that are part of the whole organism.	
CHEBI:33780	beryllium molecular entity	biolink:ChemicalSubstance	mondo			beryllium compounds|beryllium molecular entities	http://purl.obolibrary.org/obo/CHEBI_33780		
NCBITaxon:1781	Mycobacterium marinum	organism taxon	mondo	PMID:12089250|GC_ID:11		Mycobacterium balnei|Mycobacterium platypoecilus	http://purl.obolibrary.org/obo/NCBITaxon_1781		
UBERON:0014621	cervical spinal cord ventral horn	biolink:AnatomicalEntity	mondo			cervical spinal cord ventral horn|cervical spinal cord anterior horn	http://purl.obolibrary.org/obo/UBERON_0014621	A ventral horn of spinal cord that is part of a cervical spinal cord.	
NCBITaxon:1789	Mycobacterium xenopi	organism taxon	mondo	PMID:13641655|GC_ID:11|PMID:30186281		Mycobacterium xenopei|Mycobacterium xenopi Schwabacher 1959 (Approved Lists) emend. Nouioui et al. 2018	http://purl.obolibrary.org/obo/NCBITaxon_1789		
CHEBI:35498	diuretic	biolink:ChemicalSubstance	mondo			diuretics	http://purl.obolibrary.org/obo/CHEBI_35498	An agent that promotes the excretion of urine through its effects on kidney function.	
CHEBI:60466	peptide zwitterion	biolink:ChemicalSubstance	mondo			peptide zwitterions	http://purl.obolibrary.org/obo/CHEBI_60466	Zwitterionic form of any peptide where, in general, the amino terminus is positively charged and the carboxy terminus is negatively charged.	
UBERON:0014614	cervical spinal cord white matter	biolink:AnatomicalEntity	mondo			cervical spinal cord white matter	http://purl.obolibrary.org/obo/UBERON_0014614	A white matter of spinal cord that is part of a cervical spinal cord.	
HGNC:9508	PSEN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9508		
UBERON:0014615	accessory nerve root	biolink:AnatomicalEntity	mondo			cranial part of the accessory nerve|cranial part of accessory nerve|nerve XI (cranialis)|bulbar accessory nerve|radices craniales nervi accessorii|root of accessory nerve|pars vagalis of nervus accessorius|c11n|cranial accessory nerve|cranial portion of eleventh cranial nerve|internal branch of accessory nerve|accessory portion of spinal accessory nerve|accessory nerve root|bulbar part of accessory nerve	http://purl.obolibrary.org/obo/UBERON_0014615	A nerve root that is part of a accessory XI nerve.	
HGNC:9509	PSEN2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9509		
CHEBI:35493	antipyretic	biolink:ChemicalSubstance	mondo			anti-pyretic	http://purl.obolibrary.org/obo/CHEBI_35493	A drug that prevents or reduces fever by lowering the body temperature from a raised state. An antipyretic will not affect the normal body temperature if one does not have fever. Antipyretics cause the hypothalamus to override an interleukin-induced increase in temperature. The body will then work to lower the temperature and the result is a reduction in fever.	
ECTO:0000750	biomarker exposure	biolink:OntologyClass	mondo			exposure to biomarker	http://purl.obolibrary.org/obo/ECTO_0000750	An exposure to biomarker.	
SO:0001483	SNV	biolink:SequenceFeature	mondo			single nucleotide variant	http://purl.obolibrary.org/obo/SO_0001483	SNVs are single nucleotide positions in genomic DNA at which different sequence alternatives exist.	
PATO:0000499	decreased duration	biolink:OntologyClass	mondo			shortened period|low period|fast time|decreased period|decreased time	http://purl.obolibrary.org/obo/PATO_0000499	A duration quality of a process which is relatively low.	
UBERON:0014610	thoracic spinal cord ventral horn	biolink:AnatomicalEntity	mondo			thoracic spinal cord anterior horn|thoracic spinal cord ventral horn	http://purl.obolibrary.org/obo/UBERON_0014610	A ventral horn of spinal cord that is part of a thoracic spinal cord.	
PATO:0000498	increased duration	biolink:OntologyClass	mondo			prolonged period|chronic|increased period|high time|increased time|slow time	http://purl.obolibrary.org/obo/PATO_0000498	A duration quality of a process which is relatively high.	
UBERON:0014613	cervical spinal cord gray matter	biolink:AnatomicalEntity	mondo			cervical spinal cord gray matter	http://purl.obolibrary.org/obo/UBERON_0014613	A gray matter of spinal cord that is part of a cervical spinal cord.	
PCO:0000018	single-species collection of organisms	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PCO_0000018	A material entity that has as parts two or more organisms, viruses, or viroids of the same species and no members of any other species.	
UBERON:0002618	root of trochlear nerve	biolink:AnatomicalEntity	mondo			trochlear nerve root|central part of trochlear nerve|trochlear nerve/root|4nf|trochlear nerve tract|trochlear nerve fibers|trochlear nerve or its root|fibrae nervi trochlearis	http://purl.obolibrary.org/obo/UBERON_0002618		
NCBITaxon:1763	Mycobacterium	organism taxon	mondo	PMID:7907223|PMID:16014496|PMID:1883713|PMID:7547304|PMID:2275850|PMID:8863452|PMID:1380284|PMID:29497402|PMID:1581193|GC_ID:11|PMID:7547284			http://purl.obolibrary.org/obo/NCBITaxon_1763		
ECTO:0000724	genotoxin exposure	biolink:OntologyClass	mondo			exposure to genotoxin	http://purl.obolibrary.org/obo/ECTO_0000724	An exposure to genotoxin.	
GO:0000820	regulation of glutamine family amino acid metabolic process	biolink:OntologyClass	mondo			regulation of glutamine family amino acid metabolism	http://purl.obolibrary.org/obo/GO_0000820	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving amino acids of the glutamine family, comprising arginine, glutamate, glutamine and proline.	
ECTO:0000726	allergen exposure	biolink:OntologyClass	mondo			exposure to allergen	http://purl.obolibrary.org/obo/ECTO_0000726	An exposure to allergen.	
NCBITaxon:1760	Actinobacteria <high GC Gram+>	organism taxon	mondo	PMID:10028260|PMID:11321122|PMID:19244447|PMID:28840812|GC_ID:11|PMID:30186281|PMID:11155976		high G+C Gram-positive bacteria|Actinobacteria|high GC Gram+|High GC gram-positive bacteria|Actinomycetes	http://purl.obolibrary.org/obo/NCBITaxon_1760		
ECTO:0000725	carcinogenic agent exposure	biolink:OntologyClass	mondo			exposure to carcinogenic agent	http://purl.obolibrary.org/obo/ECTO_0000725	An exposure to carcinogenic agent.	
UBERON:0002616	regional part of brain	biolink:AnatomicalEntity	mondo			anatomical structure of brain|neuroanatomical region|brain anatomical structure|brain biological structure|brain part|segment of brain|biological structure of brain|neuraxis segment	http://purl.obolibrary.org/obo/UBERON_0002616	Anatomical divisons of the brain according to one or more criteria, e.g. cytoarchitectural, gross anatomy. Parts may be contiguous in 3D or not, e.g., basal ganglia.	
NCBITaxon:1762	Mycobacteriaceae	organism taxon	mondo	PMID:19244447|PMID:29497402|GC_ID:11|PMID:30186281			http://purl.obolibrary.org/obo/NCBITaxon_1762		
NCBITaxon:1769	Mycobacterium leprae	organism taxon	mondo	GC_ID:11		Bacillus leprae	http://purl.obolibrary.org/obo/NCBITaxon_1769		
CHEBI:35475	non-steroidal anti-inflammatory drug	biolink:ChemicalSubstance	mondo			NSAID|non-steroidal anti-inflammatory agent|non-steroidal anti-inflammatory drugs|NSAIDs	http://purl.obolibrary.org/obo/CHEBI_35475	An anti-inflammatory drug that is not a steroid. In addition to anti-inflammatory actions, non-steroidal anti-inflammatory drugs have analgesic, antipyretic, and platelet-inhibitory actions. They act by blocking the synthesis of prostaglandins by inhibiting cyclooxygenase, which converts arachidonic acid to cyclic endoperoxides, precursors of prostaglandins.	
CHEBI:35479	alkali metal salt	biolink:ChemicalSubstance	mondo			alkali metal salts	http://purl.obolibrary.org/obo/CHEBI_35479		
CHEBI:35470	central nervous system drug	biolink:ChemicalSubstance	mondo			central nervous system agents|CNS agent|CNS drugs	http://purl.obolibrary.org/obo/CHEBI_35470	A class of drugs producing both physiological and psychological effects through a variety of mechanisms involving the central nervous system.	
CHEBI:35472	anti-inflammatory drug	biolink:ChemicalSubstance	mondo			antiinflammatory agent|antiinflammatory drugs|antiinflammatory drug|anti-inflammatory drugs	http://purl.obolibrary.org/obo/CHEBI_35472	A substance that reduces or suppresses inflammation.	
CHEBI:35471	psychotropic drug	biolink:ChemicalSubstance	mondo			psychotropic drugs|psychoactive agent|psychoactive drugs|psychopharmaceuticals	http://purl.obolibrary.org/obo/CHEBI_35471	A loosely defined grouping of drugs that have effects on psychological function.	
ECTO:0000730	neurotoxin exposure	biolink:OntologyClass	mondo			exposure to neurotoxin	http://purl.obolibrary.org/obo/ECTO_0000730	An exposure to neurotoxin.	
NCBITaxon:34395	Chaetothyriales	organism taxon	mondo	GC_ID:1		black yeasts	http://purl.obolibrary.org/obo/NCBITaxon_34395		
PCO:0000000	collection of organisms	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PCO_0000000	A material entity that consists of two or more organisms, viruses, or viroids.	
GO:0048812	neuron projection morphogenesis	biolink:OntologyClass	mondo			neurite morphogenesis|neurite formation|neurite biosynthesis|neurite growth	http://purl.obolibrary.org/obo/GO_0048812	The process in which the anatomical structures of a neuron projection are generated and organized. A neuron projection is any process extending from a neural cell, such as axons or dendrites.	
NCBITaxon:34390	Epidermophyton	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_34390		
PCO:0000002	ecological community	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PCO_0000002	A multi-species collection of organisms of at least two different species, living in a particular area. Must have at least two populations of different species as members.	
NCBITaxon:1773	Mycobacterium tuberculosis	organism taxon	mondo	GC_ID:11|PMID:29205127		Mycobacterium tuberculosis typus humanus|Mycobacterium tuberculosis var. hominis|Bacillus tuberculosis|Mycobacterium tuberculosis variant tuberculosis|Bacterium tuberculosis	http://purl.obolibrary.org/obo/NCBITaxon_1773		
ECTO:0000738	ligand exposure	biolink:OntologyClass	mondo			exposure to ligand	http://purl.obolibrary.org/obo/ECTO_0000738	An exposure to ligand.	
PCO:0000001	population of organisms	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PCO_0000001	A collection of organisms, all of the same species, that live in the same place.	
NCBITaxon:227984	SARS coronavirus Tor2	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_227984		
HGNC:9535	PSMA6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9535		
CHEBI:35488	central nervous system depressant	biolink:ChemicalSubstance	mondo			CNS depressants|central nervous system depressants	http://purl.obolibrary.org/obo/CHEBI_35488	A loosely defined group of drugs that tend to reduce the activity of the central nervous system.	
UBERON:0002610	cochlear nuclear complex	biolink:AnatomicalEntity	mondo			nuclei cochleares|cochlear nuclei	http://purl.obolibrary.org/obo/UBERON_0002610	The cochlear nuclei consist of: (a) the dorsal cochlear nucleus, corresponding to the tuberculum acusticum on the dorso-lateral surface of the inferior peduncle; and (b) the ventral or accessory cochlear nucleus, placed between the two divisions of the nerve, on the ventral aspect of the inferior peduncle. [WP,unvetted].	
CHEBI:35481	non-narcotic analgesic	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_35481	A drug that has principally analgesic, antipyretic and anti-inflammatory actions. Non-narcotic analgesics do not bind to opioid receptors.	
GO:0048817	negative regulation of hair follicle maturation	biolink:OntologyClass	mondo			downregulation of hair follicle maturation|down regulation of hair follicle maturation|inhibition of hair follicle maturation|down-regulation of hair follicle maturation	http://purl.obolibrary.org/obo/GO_0048817	Any process that stops, prevents, or reduces the frequency, rate or extent of hair follicle maturation.	
CHEBI:35480	analgesic	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_35480	An agent capable of relieving pain without the loss of consciousness or without producing anaesthesia. In addition, analgesic is a role played by a compound which is exhibited by a capability to cause a reduction of pain symptoms.	
GO:0048818	positive regulation of hair follicle maturation	biolink:OntologyClass	mondo			activation of hair follicle maturation|up-regulation of hair follicle maturation|upregulation of hair follicle maturation|up regulation of hair follicle maturation|stimulation of hair follicle maturation	http://purl.obolibrary.org/obo/GO_0048818	Any process that activates or increases the frequency, rate or extent of hair follicle maturation.	
GO:0048819	regulation of hair follicle maturation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0048819	Any process that modulates the frequency, rate or extent of hair follicle maturation.	
GO:0048820	hair follicle maturation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0048820	A developmental process, independent of morphogenetic (shape) change, that is required for a hair follicle to attain its fully functional state.	
UBERON:0000017	exocrine pancreas	biolink:AnatomicalEntity	mondo			exocrine part of pancreas|pars exocrina pancreatis|exocrine pancreas|exocrine component of pancreas	http://purl.obolibrary.org/obo/UBERON_0000017	The part of the pancreas that is part of the exocrine system and which produces and store zymogens of digestive enzymes, such as chymotrypsinogen and trypsinogen in the acinar cells [GO].	
UBERON:0000019	camera-type eye	biolink:AnatomicalEntity	mondo			eyes|camera-type eye plus associated structures|orbital region|regio orbitalis|eye|vertebrate eye|orbital part of face	http://purl.obolibrary.org/obo/UBERON_0000019	An organ of sight that includes the camera-type eyeball and supporting structures such as the lacrimal apparatus, the conjunctiva, the eyelid.	
HP:0031348	Dextrotransposition of the great arteries	biolink:PhenotypicFeature	mondo	Fyler:0700|Fyler:700		D-TGA|D-loop transposition of the great arteries	http://purl.obolibrary.org/obo/HP_0031348	A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA.	
UBERON:0000025	tube	biolink:AnatomicalEntity	mondo			duct|anatomical tube	http://purl.obolibrary.org/obo/UBERON_0000025	Any hollow cylindrical anatomical structure containing a lumen through which substances are transported.	
UBERON:0000026	appendage	biolink:AnatomicalEntity	mondo			appendages|extremitaet|limbs/digits/tail|extremity	http://purl.obolibrary.org/obo/UBERON_0000026	Major subdivision of an organism that protrudes from the body[DOS, CARO].	
UBERON:0000020	sense organ	biolink:AnatomicalEntity	mondo			organ of sensory organ system|Sinnesorgan|sensor|sense organ system organ|sensory system organ|sensory organ|sensillum|sensory organ system organ|organ of sense organ system|organ of sensory system	http://purl.obolibrary.org/obo/UBERON_0000020	An organ that is capable of transducing sensory stimulus to the nervous system.	
HGNC:9545	PSMB8	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9545		
UBERON:0002682	abducens nucleus	biolink:AnatomicalEntity	mondo			abducens nerve nucleus|abducens motor nuclei|nucleus nervi abducentis|nucleus abducens|abducens motor nucleus|nVI|abducens nucleus proper|nucleus nervi abducentis|nucleus of abducens nerve (VI)|nucleus of abducens nerve|abducent nucleus|abducens VI nucleus|motor nucleus VI|sixth cranial nerve nucleus	http://purl.obolibrary.org/obo/UBERON_0002682	Nucleus located beneath the floor of the 4th ventricle in the pontine tegmentum, containing motor neurons innervating the lateral rectus muscle of the eye (Brodal, Neurological Anatomy, 3rd ed., 1981, pg 533)	
UBERON:0000021	cutaneous appendage	biolink:AnatomicalEntity	mondo			skin appendage|epidermal appendage|epidermal growth	http://purl.obolibrary.org/obo/UBERON_0000021	Anatomical projection that protrudes from the skin. Examples: hair, nail, feather, claw, hoof, horn, wattle, spur, beak, antler, bristle and some scales.	
NCBITaxon:1783257	PVC group	organism taxon	mondo	PMID:23851394|GC_ID:11|PMID:16704931|PMID:24185849			http://purl.obolibrary.org/obo/NCBITaxon_1783257		
UBERON:0000006	islet of Langerhans	biolink:AnatomicalEntity	mondo			islets of Langerhans|pancreatic islet|pancreatic insula|island of pancreas|island of Langerhans	http://purl.obolibrary.org/obo/UBERON_0000006	the clusters of hormone-producing cells that are scattered throughout the pancreas	
UBERON:0000007	pituitary gland	biolink:AnatomicalEntity	mondo			pituitary body|Hp|hypophysis cerebri|hypophysis|glandula pituitaria|pituitary	http://purl.obolibrary.org/obo/UBERON_0000007	The pituitary gland is an endocrine gland that secretes hormones that regulate many other glands [GO]. An endocrine gland located ventral to the diencephalon and derived from mixed neuroectodermal and non neuroectodermal origin [ZFIN].	
UBERON:0002668	oculomotor nerve root	biolink:AnatomicalEntity	mondo			oculomotor nerve fibers|oculomotor nerve tract|fibrae nervi oculomotorii|root of oculomotor nerve|central part of oculomotor nerve|3nf	http://purl.obolibrary.org/obo/UBERON_0002668	Initial segment of the occulomotor nerve as it leaves the midbrain.	
UBERON:0000009	submucosa	biolink:AnatomicalEntity	mondo			submucous layer|submucosa of region of organ|tunica submucosa|submucosa of organ|region of submucosa|tela submucosa|organ submucosa	http://purl.obolibrary.org/obo/UBERON_0000009	A layer of dense irregular connective tissue that lines organs and supports the mucosa, as well as joins the mucosa to the bulk of underlying smooth muscle. [WP,unvetted].	
CHEBI:23482	cyclohexanones	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_23482	Any alicyclic ketone based on a cyclohexane skeleton and its substituted derivatives thereof.	
GO:0000819	sister chromatid segregation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0000819	The cell cycle process in which sister chromatids are organized and then physically separated and apportioned to two or more sets.	
UBERON:0014649	white matter of medulla oblongata	biolink:AnatomicalEntity	mondo			white matter of medulla|white substance of medulla|substantia alba medullae oblongatae|medullary white matter	http://purl.obolibrary.org/obo/UBERON_0014649	A white matter that is part of a medulla oblongata.	
UBERON:0000013	sympathetic nervous system	biolink:AnatomicalEntity	mondo			sympathetic nervous system|sympathetic part of autonomic division of nervous system|pars sympathica divisionis autonomici systematis nervosi|pars sympathica divisionis autonomici systematis nervosi	http://purl.obolibrary.org/obo/UBERON_0000013	The sympathetic nervous system is one of the two divisions of the vertebrate autonomic nervous system (the other being the parasympathetic nervous system). The sympathetic preganglionic neurons have their cell bodies in the thoracic and lumbar regions of the spinal cord and connect to the paravertebral chain of sympathetic ganglia. Innervate heart and blood vessels, sweat glands, viscera and the adrenal medulla. Most sympathetic neurons, but not all, use noradrenaline as a post-ganglionic neurotransmitter [GO].	
UBERON:0000014	zone of skin	biolink:AnatomicalEntity	mondo			region of skin|skin region|skin zone|portion of skin|skin	http://purl.obolibrary.org/obo/UBERON_0000014	Any portion of the organ that covers that body and consists of a layer of epidermis and a layer of dermis.	
UBERON:0000015	non-material anatomical boundary	biolink:AnatomicalEntity	mondo			anatomical boundary	http://purl.obolibrary.org/obo/UBERON_0000015	A non-material anatomical entity of two dimensions. Anatomical boundaries are contiguous structures.	
UBERON:0000016	endocrine pancreas	biolink:AnatomicalEntity	mondo			pars endocrina pancreatis|endocrine part of pancreas|endocrine pancreas|islets of Langerhans part of pancreas	http://purl.obolibrary.org/obo/UBERON_0000016	The part of the pancreas that is part of the endocrine system and is made up of islet cells, which produce insulin, glucagon and somatostatin.	
UBERON:0000010	peripheral nervous system	biolink:AnatomicalEntity	mondo			PNS|pars peripherica|systema nervosum periphericum	http://purl.obolibrary.org/obo/UBERON_0000010	A major division of the nervous system that contains nerves which connect the central nervous system (CNS) with sensory organs, other organs, muscles, blood vessels and glands.	
UBERON:0000011	parasympathetic nervous system	biolink:AnatomicalEntity	mondo			PNS - parasympathetic|parasympathetic part of autonomic division of nervous system|pars parasympathica divisionis autonomici systematis nervosi|pars parasympathica divisionis autonomici systematis nervosi	http://purl.obolibrary.org/obo/UBERON_0000011	The parasympathetic nervous system is one of the two divisions of the vertebrate autonomic nervous system. Parasympathetic nerves emerge cranially as pre ganglionic fibers from oculomotor, facial, glossopharyngeal and vagus and from the sacral region of the spinal cord. Most neurons are cholinergic and responses are mediated by muscarinic receptors. The parasympathetic system innervates, for example: salivary glands, thoracic and abdominal viscera, bladder and genitalia[GO].	
UBERON:0002673	vestibular nuclear complex	biolink:AnatomicalEntity	mondo			vestibular nuclei in medulla oblongata|nuclei vestibulares|vestibular nuclei|nuclei vestibulares in medulla oblongata|vestibular nucleus	http://purl.obolibrary.org/obo/UBERON_0002673	Nuclear complex containing the vestibular nuclei.	
UBERON:0000012	somatic nervous system	biolink:AnatomicalEntity	mondo			somatic part of peripheral nervous system|somatic nervous system, somatic division|PNS - somatic|somatic peripheral nervous system	http://purl.obolibrary.org/obo/UBERON_0000012	Part of peripheral nervous system that includes the somatic parts of the cranial and spinal nerves and their ganglia and the peripheral sensory receptors.	
PCO:0000031	organismal entity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PCO_0000031	A material entity that is one or more organisms, viruses or viroids.	
GO:0048844	artery morphogenesis	biolink:OntologyClass	mondo			arterial morphogenesis|arteriogenesis	http://purl.obolibrary.org/obo/GO_0048844	The process in which the anatomical structures of arterial blood vessels are generated and organized. Arteries are blood vessels that transport blood from the heart to the body and its organs.	
GO:0048845	venous blood vessel morphogenesis	biolink:OntologyClass	mondo			vein morphogenesis|venous morphogenesis	http://purl.obolibrary.org/obo/GO_0048845	The process in which the anatomical structures of venous blood vessels are generated and organized. Veins are blood vessels that transport blood from the body and its organs to the heart.	
HP:0031365	Macular purpura	biolink:PhenotypicFeature	mondo			Flat purpura	http://purl.obolibrary.org/obo/HP_0031365	Purpura that is flat (non-palpable, not raised).	
PATO:0000467	present	biolink:OntologyClass	mondo			present in organism	http://purl.obolibrary.org/obo/PATO_0000467	A quality inhering in a bearer by virtue of the bearer's existence.	
UBERON:0014640	occipital gyrus	biolink:AnatomicalEntity	mondo			gyrus occipitalis	http://purl.obolibrary.org/obo/UBERON_0014640	A gyrus that is part of a occipital lobe.	
UBERON:0014636	thoracic spinal cord gray matter	biolink:AnatomicalEntity	mondo			thoracic spinal cord gray matter	http://purl.obolibrary.org/obo/UBERON_0014636	A gray matter of spinal cord that is part of a thoracic spinal cord.	
PATO:0000461	normal	biolink:OntologyClass	mondo			average	http://purl.obolibrary.org/obo/PATO_0000461	A quality inhering in a bearer by virtue of the bearer's exhibiting no deviation from normal or average.	
UBERON:0014637	thoracic spinal cord white matter	biolink:AnatomicalEntity	mondo			thoracic spinal cord white matter	http://purl.obolibrary.org/obo/UBERON_0014637	A white matter of spinal cord that is part of a thoracic spinal cord.	
UBERON:0014639	frontal sulcus	biolink:AnatomicalEntity	mondo			frontal lobe sulci|frontal lobe sulcus	http://purl.obolibrary.org/obo/UBERON_0014639	A sulcus of brain that is part of a frontal cortex.	
UBERON:0000002	uterine cervix	biolink:AnatomicalEntity	mondo			cervix|cervical canal of uterus|cervix of uterus|cervix uteri|canalis cervicis uteri|neck of uterus|cervical canal|uterine cervix|caudal segment of uterus	http://purl.obolibrary.org/obo/UBERON_0000002	Lower, narrow portion of the uterus where it joins with the top end of the vagina.	
UBERON:0000003	naris	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0000003	Orifice of the olfactory system. The naris is the route by which odorants enter the olfactory system[MAH].	
UBERON:0000004	nose	biolink:AnatomicalEntity	mondo			olfactory apparatus|peripheral olfactory organ|nasus|nose|nasal sac|proboscis	http://purl.obolibrary.org/obo/UBERON_0000004	The olfactory organ of vertebrates, consisting of nares, olfactory epithelia and the structures and skeletal framework of the nasal cavity.	
UBERON:0000005	chemosensory organ	biolink:AnatomicalEntity	mondo			chemosensory sensory organ	http://purl.obolibrary.org/obo/UBERON_0000005		
NCBITaxon:685953	Philophthalmus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_685953		
PCO:0000029	multi-species collection of organisms	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PCO_0000029	A collection of organisms that consists of two or more organisms from at least two species.	
UBERON:0000000	processual entity	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0000000	An occurrent [span:Occurrent] that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity.	
GO:0048856	anatomical structure development	biolink:OntologyClass	mondo			development of an anatomical structure	http://purl.obolibrary.org/obo/GO_0048856	The biological process whose specific outcome is the progression of an anatomical structure from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure, whatever form that may be including its natural destruction. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome.	
HP:0031375	Refractory	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0031375	Applies to a sign or symptom that is difficult to treat or cure.	
HGNC:30492	DNAAF3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30492		
CHEBI:35442	antiparasitic agent	biolink:ChemicalSubstance	mondo			antiparasitic drugs|parasiticides|antiparasitics	http://purl.obolibrary.org/obo/CHEBI_35442	A substance used to treat or prevent parasitic infections.	
PATO:0000470	increased amount	biolink:OntologyClass	mondo			supernumerary|accessory|increased|present in greater numbers in organism|increased number	http://purl.obolibrary.org/obo/PATO_0000470	An amount which is relatively high.	
GO:0048858	cell projection morphogenesis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0048858	The process in which the anatomical structures of a cell projection are generated and organized.	
HGNC:9577	PSPH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9577		
HGNC:30497	KIF7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30497		
CHEBI:35441	antiinfective agent	biolink:ChemicalSubstance	mondo			anti-infective drugs|anti-infective agents|antiinfective drug|antiinfective agents	http://purl.obolibrary.org/obo/CHEBI_35441	A substance used in the prophylaxis or therapy of infectious diseases.	
PATO:0000402	branched	biolink:OntologyClass	mondo			ramiform|ramified	http://purl.obolibrary.org/obo/PATO_0000402	A branchiness quality inhering in a bearer by virtue of the bearer's having branches.	
GO:0034219	carbohydrate transmembrane transport	biolink:OntologyClass	mondo			carbohydrate membrane transport|transmembrane carbohydrate transport	http://purl.obolibrary.org/obo/GO_0034219	The process in which a carbohydrate is transported across a membrane.	
GO:0009260	ribonucleotide biosynthetic process	biolink:OntologyClass	mondo			ribonucleotide anabolism|ribonucleotide biosynthesis|ribonucleotide synthesis|ribonucleotide formation	http://purl.obolibrary.org/obo/GO_0009260	The chemical reactions and pathways resulting in the formation of a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar.	
NCBITaxon:526524	Erysipelotrichia	organism taxon	mondo	GC_ID:11|PMID:23606477			http://purl.obolibrary.org/obo/NCBITaxon_526524		
GO:0010243	response to organonitrogen compound	biolink:OntologyClass	mondo			response to organic nitrogen	http://purl.obolibrary.org/obo/GO_0010243	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond.	
GO:0009259	ribonucleotide metabolic process	biolink:OntologyClass	mondo			ribonucleotide metabolism	http://purl.obolibrary.org/obo/GO_0009259	The chemical reactions and pathways involving a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar.	
PATO:0000411	circular	biolink:OntologyClass	mondo			round|rounded	http://purl.obolibrary.org/obo/PATO_0000411	A shape quality inhering in a bearer by virtue of the bearer's being such that every part of the surface or the circumference is equidistant from the center.	
GO:0010259	multicellular organism aging	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010259	An aging process that has as participant a whole multicellular organism. Multicellular organism aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Multicellular organisms aging includes processes like cellular senescence and organ senescence, but is more inclusive. May precede death (GO:0016265) of an organism and may succeed developmental maturation (GO:0021700).	
ENVO:0010001	anthropogenic environmental material	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_0010001	Anthropogenic material in or on which organisms may live.	
ENVO:0010003	agricultural environmental material	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_0010003		
GO:0010256	endomembrane system organization	biolink:OntologyClass	mondo			endomembrane system organisation|endomembrane organization	http://purl.obolibrary.org/obo/GO_0010256	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the endomembrane system.	
GO:0009235	cobalamin metabolic process	biolink:OntologyClass	mondo			vitamin B12 metabolism|vitamin B12 reduction|vitamin B12 metabolic process|cobalamin metabolism	http://purl.obolibrary.org/obo/GO_0009235	The chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom.	
HGNC:17494	GJC2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17494		
HGNC:17493	GMNN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17493		
HGNC:29478	ROGDI	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29478		
NCBITaxon:526525	Erysipelotrichales	organism taxon	mondo	GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_526525		
GO:0009247	glycolipid biosynthetic process	biolink:OntologyClass	mondo			glycolipid synthesis|glycolipid formation|glycolipid biosynthesis|glycolipid anabolism	http://purl.obolibrary.org/obo/GO_0009247	The chemical reactions and pathways resulting in the formation of glycolipid, a class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide).	
WIKIDATA:Q2	Earth	biolink:OntologyClass	mondo				https://www.wikidata.org/wiki/Q2	third planet from the Sun in the Solar System	
NCBITaxon:1783272	Terrabacteria group	organism taxon	mondo	GC_ID:11|PMID:18988685|PMID:23851394			http://purl.obolibrary.org/obo/NCBITaxon_1783272		
NCBITaxon:1783270	FCB group	organism taxon	mondo	GC_ID:11		Fibrobacter/Acidobacteria group|Fibrobacteres/Acidobacteria group|Fibrobacteres-Chlorobi-Bacteroidetes superphylum	http://purl.obolibrary.org/obo/NCBITaxon_1783270		
UBERON:0002600	limbic lobe	biolink:AnatomicalEntity	mondo			fornicate convolution|fornicate gyrus|limbic lobe (carpenter)|fornicate lobe|gyrus fornicatus|lobus limbicus|grande lobe limbique of Broca	http://purl.obolibrary.org/obo/UBERON_0002600	Part of cerebral hemisphere located on the medial surface, forming a ring around the brain stem	
HGNC:29456	TOR1AIP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29456		
FOODON:03303918	human milk (raw)	biolink:OntologyClass	mondo	SUBSET_SIREN:F3918	"subset_siren"		http://purl.obolibrary.org/obo/FOODON_03303918	Breast milk is the milk produced by the breasts (or mammary glands) of a human female to feed a child.	
HGNC:29450	GLIS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29450		
HGNC:29427	SH3TC2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29427		
HGNC:30417	SH2B1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30417		
HGNC:29426	CCBE1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29426		
HGNC:29420	RSPRY1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29420		
ECTO:0000776	signalling molecule exposure	biolink:OntologyClass	mondo			exposure to signalling molecule	http://purl.obolibrary.org/obo/ECTO_0000776	An exposure to signalling molecule.	
HGNC:29433	NEXMIF	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29433		
CHEBI:84410	sphingoid base(1+)	biolink:ChemicalSubstance	mondo			a sphingoid base|2-amino-1,3-dihydroxysphingoid base(1+)	http://purl.obolibrary.org/obo/CHEBI_84410	A cationic sphingoid obtained by protonation of the amino group of any 2-amino-1,3-dihydroxysphingoid base.	
GO:0009201	ribonucleoside triphosphate biosynthetic process	biolink:OntologyClass	mondo			ribonucleoside triphosphate anabolism|ribonucleoside triphosphate synthesis|ribonucleoside triphosphate formation|ribonucleoside triphosphate biosynthesis	http://purl.obolibrary.org/obo/GO_0009201	The chemical reactions and pathways resulting in the formation of a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar.	
GO:0009205	purine ribonucleoside triphosphate metabolic process	biolink:OntologyClass	mondo			purine ribonucleoside triphosphate metabolism	http://purl.obolibrary.org/obo/GO_0009205	The chemical reactions and pathways involving purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar.	
GO:0009206	purine ribonucleoside triphosphate biosynthetic process	biolink:OntologyClass	mondo			purine ribonucleoside triphosphate anabolism|purine ribonucleoside triphosphate synthesis|purine ribonucleoside triphosphate formation|purine ribonucleoside triphosphate biosynthesis	http://purl.obolibrary.org/obo/GO_0009206	The chemical reactions and pathways resulting in the formation of purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar.	
GO:0046165	alcohol biosynthetic process	biolink:OntologyClass	mondo			alcohol anabolism|alcohol synthesis|alcohol formation|alcohol biosynthesis	http://purl.obolibrary.org/obo/GO_0046165	The chemical reactions and pathways resulting in the formation of alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom.	
GO:0046164	alcohol catabolic process	biolink:OntologyClass	mondo			alcohol degradation|alcohol catabolism|alcohol breakdown	http://purl.obolibrary.org/obo/GO_0046164	The chemical reactions and pathways resulting in the breakdown of alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom.	
MONDO:0015490	predominantly small-vessel vasculitis	biolink:Disease	mondo	Orphanet:156146	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015490		ORPHA:156146
UBERON:2002260	premaxillary-maxillary joint	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_2002260	Joint that articulates the premaxilla and maxilla. Premaxillary-maxillary joint is paired.	
HGNC:29529	TBL1XR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29529		
HGNC:29521	C12orf57	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29521		
MONDO:0015499	paralytic facial malformation	biolink:Disease	mondo	ICD10:Q87.0|Orphanet:156224	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015499		ORPHA:156224
MONDO:0015494	isolated dystonia	biolink:Disease	mondo	Orphanet:156159|ICD10:G24.1	ordo_group_of_disorders	isolated dystonic disorder|nonsyndromic dystonic disorder|Pure dystonia|nonsyndromic dystonia (disease)	http://purl.obolibrary.org/obo/MONDO_0015494	A dystonia (disease) that is not part of a larger syndrome.	ORPHA:156159
MONDO:0015493	lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy	biolink:Disease	mondo	Orphanet:156156	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015493		ORPHA:156156
MONDO:0015492	Anti-neutrophil cytoplasmic antibody-associated vasculitis	biolink:Disease	mondo	Orphanet:156152|UMLS:C2717865|GARD:0013011|MESH:D056648	ordo_group_of_disorders	antineutrophil cytoplasmic antibody-associated vasculitis|ANCA-associated vasculitis|AAV	http://purl.obolibrary.org/obo/MONDO_0015492	Group of systemic vasculitis with a strong association with anca. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls.	UMLS:C2717865|MESH:D056648|ORPHA:156152
MONDO:0015491	immune complex mediated vasculitis	biolink:Disease	mondo	Orphanet:156149	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015491		ORPHA:156149
HGNC:30521	SLC46A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30521		
MONDO:0015498	oromandibular-limb anomalies syndrome	biolink:Disease	mondo	UMLS:CN199634|Orphanet:156215	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015498		UMLS:CN199634|ORPHA:156215
GO:0097755	obsolete positive regulation of blood vessel diameter	biolink:OntologyClass	mondo			positive regulation of vasodilation	http://purl.obolibrary.org/obo/GO_0097755	OBSOLETE. Any process that increases the diameter of blood vessels.	
MONDO:0015497	hypoglossia/aglossia	biolink:Disease	mondo	ICD10:Q38.3|Orphanet:156212	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015497		ORPHA:156212
GO:0097756	obsolete negative regulation of blood vessel diameter	biolink:OntologyClass	mondo			negative regulation of vasodilation	http://purl.obolibrary.org/obo/GO_0097756	OBSOLETE. Any process that decreases the diameter of blood vessels.	
MONDO:0015496	macroglossia	biolink:Disease	mondo	MedDRA:10025391|MESH:D008260|UMLS:C0024421|Orphanet:156207|GARD:0003342|ICD10:Q38.2	ordo_group_of_disorders	enlarged tongue|giant tongue	http://purl.obolibrary.org/obo/MONDO_0015496	The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)	ORPHA:156207|MEDDRA:10025391|UMLS:C0009677|MESH:D008260|UMLS:C0024421
MONDO:0015495	otomandibular dysplasia associated with monogenic syndromes	biolink:Disease	mondo	UMLS:CN199632|Orphanet:156202	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015495		ORPHA:156202|UMLS:CN199632
GO:0046173	polyol biosynthetic process	biolink:OntologyClass	mondo			polyhydric alcohol biosynthetic process|polyol biosynthesis|polyol anabolism|polyol synthesis|polyol formation	http://purl.obolibrary.org/obo/GO_0046173	The chemical reactions and pathways resulting in the formation of a polyol, any alcohol containing three or more hydroxyl groups attached to saturated carbon atoms.	
GO:1900249	positive regulation of cytoplasmic translational elongation	biolink:OntologyClass	mondo			up regulation of cytoplasmic translational elongation|up-regulation of cytoplasmic translational elongation|activation of cytoplasmic translational elongation|upregulation of cytoplasmic translational elongation	http://purl.obolibrary.org/obo/GO_1900249	Any process that activates or increases the frequency, rate or extent of cytoplasmic translational elongation.	
MONDO:0027462	autosomal recessive cutis laxa type 2c	biolink:Disease	mondo	OMIM:617402|DOID:0070140|ICD10:Q82.8		autosomal recessive cutis laxa type IIC|cutis laxa, autosomal recessive, type IIC; ARCL2C|cutis laxa, autosomal recessive, type 2C|ARCL2C	http://purl.obolibrary.org/obo/MONDO_0027462	An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11.	http://identifiers.org/omim/617402|DOID:0070140
GO:1900248	negative regulation of cytoplasmic translational elongation	biolink:OntologyClass	mondo			downregulation of cytoplasmic translational elongation|down regulation of cytoplasmic translational elongation|inhibition of cytoplasmic translational elongation|down-regulation of cytoplasmic translational elongation	http://purl.obolibrary.org/obo/GO_1900248	Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic translational elongation.	
HGNC:29536	MAPKBP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29536		
GO:1900247	regulation of cytoplasmic translational elongation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1900247	Any process that modulates the frequency, rate or extent of cytoplasmic translational elongation.	
MONDO:0015489	predominantly medium-vessel vasculitis	biolink:Disease	mondo	Orphanet:156143	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015489		ORPHA:156143
MONDO:0015488	predominantly large-vessel vasculitis	biolink:Disease	mondo	Orphanet:156140	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015488		ORPHA:156140
MONDO:0015483	mandibulofacial dysostosis	biolink:Disease	mondo	MedDRA:10051456|ICD10:Q75.4|Orphanet:155899|MESH:D008342	ordo_group_of_disorders	bilateral and symmetric oto-mandibular dysplasia	http://purl.obolibrary.org/obo/MONDO_0015483	A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)	ORPHA:155899|UMLS:C0242387|MESH:D008342|MEDDRA:10051456
MONDO:0015482	otomandibular dysplasia	biolink:Disease	mondo	Orphanet:155896	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015482		ORPHA:155896
MONDO:0015481	coloboma of inferior eyelid	biolink:Disease	mondo	SCTID:763133008|Orphanet:155889|ICD10:Q10.3	ordo_morphological_anomaly	Inferior palpebral coloboma	http://purl.obolibrary.org/obo/MONDO_0015481	Coloboma of inferior eyelid is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome.	SNOMEDCT:763133008|ORPHA:155889
MONDO:0015480	coloboma of superior eyelid	biolink:Disease	mondo	ICD10:Q10.3|SCTID:763132003|Orphanet:155884	ordo_morphological_anomaly	superior palpebral coloboma	http://purl.obolibrary.org/obo/MONDO_0015480	Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome.	SNOMEDCT:763132003|ORPHA:155884
MONDO:0015487	fatal infantile encephalocardiomyopathy	biolink:Disease	mondo	ICD10:G71.3|Orphanet:1561|DOID:0050713|DC:0000488|SCTID:718124006|GARD:0001113	ordo_disease|gard_rare	fatal infantile encephalomyopathy|fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency|fatal infantile cytochrome C oxidase deficiency|fatal infantile COX deficiency|cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency|fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency	http://purl.obolibrary.org/obo/MONDO_0015487	Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.	ORPHA:1561|SNOMEDCT:718124006|DOID:0050713
MONDO:0015486	keratoconus (disease)	biolink:Disease	mondo	NCIT:C26806|DOID:10126|UMLS:C0022578|COHD:374362|HP:0000563|ICD9:371.60|ICD10:H18.60|ICD9:371.6|Orphanet:156071|ICD10:H18.6|SCTID:65636009|GARD:0006824|MedDRA:10023353|MESH:D007640|OMIMPS:148300	ordo_group_of_disorders	conical cornea|keratoconus|KC|noninflammatory corneal thining	http://purl.obolibrary.org/obo/MONDO_0015486	A degenerative, structural disorder of the eye, characterized by a cone-shaped protrusion of the cornea. It may lead to visual disturbances.	MESH:D007640|ORPHA:156071|UMLS:C0022578|DOID:10126|SNOMEDCT:65636009|NCIT:C26806|MEDDRA:10023353
MONDO:0015485	primary hereditary glaucoma	biolink:Disease	mondo	Orphanet:156005	ordo_group_of_disorders	primary glaucoma	http://purl.obolibrary.org/obo/MONDO_0015485		ORPHA:156005
MONDO:0015484	cysticercosis	biolink:Disease	mondo	ICD10:B69.8|Orphanet:1560|UMLS:C0010678|MedDRA:10011775|EFO:0007231|DOID:10079|ICD10:B69.1|ICD10:B69.0|MESH:D003551|ICD10:B69.9|SCTID:59051007|COHD:440953|UMLS:C0338437|NCIT:C34520|ICD9:123.1|GARD:0008194|ICD10:B69	ordo_disease	tenia solium infectious disease|neurocysticercosis|tapeworm infection: pork|tapeworm infection: intestinal taenia solum|intestinal taenia solium infection|tapeworm infection: [intestinal taenia solium] or [pork]|pork tapeworm infection	http://purl.obolibrary.org/obo/MONDO_0015484	Cysticercosis is a parasitic infectious disease characterized by cyst formation in the target tissue of Taenia solium (tapeworm) parasite larvae ingested via the feces of a human with a tapeworm (human-to-human fecal-oral transmission) leading to variable clinical manifestations in muscle, the brain, spinal cord, and eyes. Infection of muscle tissue is generally asymptomatic. Cyst development in the brain and spinal cord is known as neurocysticercosis (NCC) and may cause seizures and headache. NCC can follow a serious course and may be life-threatening. Severe cases of cysticercosis are treated with albendazole and anti-inflammatory drugs.	UMLS:C0010678|SNOMEDCT:59051007|DOID:10079|MESH:D003551|MEDDRA:10011775|ORPHA:1560|NCIT:C34520|UMLS:C0338437
HGNC:29508	KIDINS220	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29508		
MONDO:0003487	pseudoglandular squamous cell carcinoma	biolink:Disease	mondo	UMLS:C0334250|DOID:5524|NCIT:C4106|ICDO:8075/3|SCTID:403901001|UMLS:C0334393		adenoid squamous cell carcinoma|adenocarcinoma with squamous metaplasia (morphologic abnormality)|pseudoglandular epidermoid carcinoma|adenoacanthoma|pseudoglandular squamous cell carcinoma|acantholytic squamous cell carcinoma|adenocarcinoma with squamous metaplasia|pharyngeal tonsil squamous cell carcinoma|adenoid squamous cell carcinoma (morphologic abnormality)|pseudoglandular epidermoid cell carcinoma|pseudoglandular squamous carcinoma|adenoid squamous carcinoma	http://purl.obolibrary.org/obo/MONDO_0003487	A squamous cell carcinoma characterized by the formation of gland-like structures.	NCIT:C4106|UMLS:C0334250|SNOMEDCT:403901001|UMLS:C0334393|DOID:5524
MONDO:0003488	obsolete anal squamous cell carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003488		
MONDO:0003489	obsolete middle ear squamous cell carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003489		
MONDO:0003483	obsolete gastric squamous cell carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003483		
MONDO:0027451	autosomal recessive cutis laxa type 2d	biolink:Disease	mondo	ICD10:Q82.8|OMIM:617403|DOID:0070129		autosomal recessive cutis laxa type IID|ARCL2D|cutis laxa, autosomal recessive, type IID; ARCL2D|cutis laxa, autosomal recessive, type 2D	http://purl.obolibrary.org/obo/MONDO_0027451	An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13.	http://identifiers.org/omim/617403|DOID:0070129
MONDO:0003484	obsolete penis squamous cell carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003484		
HGNC:29501	GPSM2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29501		
MONDO:0003485	obsolete colon squamous cell carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003485		
HGNC:29502	PJVK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29502		
MONDO:0003486	basaloid squamous cell carcinoma	biolink:Disease	mondo	DOID:5522|UMLS:C1266005|NCIT:C54244|ICDO:8083/3		basaloid carcinoma (morphologic abnormality)|basaloid squamous cell carcinoma|basaloid carcinoma|basaloid squamous cell carcinoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003486	A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading.	NCIT:C54244|UMLS:C1266005|DOID:5522
MONDO:0003480	pineal region dysgerminoma	biolink:Disease	mondo	UMLS:C1335415|NCIT:C7169|DOID:5510		pineal region dysgerminoma|pineal body dysgerminoma (disease)|pineal dysgerminoma	http://purl.obolibrary.org/obo/MONDO_0003480	A dysgerminoma (disease) that involves the pineal body.	UMLS:C1335415|DOID:5510|NCIT:C7169
MONDO:0003481	dysgerminoma of ovary	biolink:Disease	mondo	ONCOTREE:ODYS|SCTID:254874008|EFO:1000414|UMLS:C0346185|NCIT:C8106|DOID:5511		dysgerminoma of the ovary|dysgerminoma of ovary|ovarian germ cell dysgerminoma|germ cell dysgerminoma of the ovary|germ cell dysgerminoma of ovary|dysgerminoma|ovarian dysgerminoma|ovary dysgerminoma (disease)	http://purl.obolibrary.org/obo/MONDO_0003481	A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage.	UMLS:C0346185|DOID:5511|NCIT:C8106|SNOMEDCT:254874008
GO:0046189	phenol-containing compound biosynthetic process	biolink:OntologyClass	mondo			phenol-containing compound anabolism|phenol-containing compound synthesis|phenol-containing compound formation|phenol-containing compound biosynthesis	http://purl.obolibrary.org/obo/GO_0046189	The chemical reactions and pathways resulting in the formation of a phenol, any compound containing one or more hydroxyl groups directly attached to an aromatic carbon ring.	
MONDO:0003482	Pediculus humanus corporis infestation	biolink:Disease	mondo	ICD10:B85.1|ICD9:132.1|UMLS:C0030758|DOID:5513|SCTID:25188002		Pediculus humanus corporis infection|Pediculus humanus infestation|infections, Pediculus humanus corporis|body louse infestation|Pediculus corporis [body louse]|Pediculus corporis	http://purl.obolibrary.org/obo/MONDO_0003482	A infectious disease involving the Pediculus humanus corporis.	SNOMEDCT:25188002|DOID:5513|UMLS:C0030758
GO:0009199	ribonucleoside triphosphate metabolic process	biolink:OntologyClass	mondo			ribonucleoside triphosphate metabolism	http://purl.obolibrary.org/obo/GO_0009199	The chemical reactions and pathways involving a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar.	
MONDO:0015479	submucosal cleft palate	biolink:Disease	mondo	ICD10:Q35.9|Orphanet:155878	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0015479		ORPHA:155878
MONDO:0015478	paramedian facial cleft	biolink:Disease	mondo	ICD10:Q18.8|Orphanet:155867	ordo_group_of_disorders	Tessier number 1-1 and 2-12 facial cleft	http://purl.obolibrary.org/obo/MONDO_0015478		ORPHA:155867
GO:0010185	regulation of cellular defense response	biolink:OntologyClass	mondo			regulation of cellular defence response	http://purl.obolibrary.org/obo/GO_0010185	Any process that modulates the frequency, rate or extent of cellular defense response.	
GO:0010186	positive regulation of cellular defense response	biolink:OntologyClass	mondo			up regulation of cellular defense response|positive regulation of cellular defence response|activation of cellular defense response|stimulation of cellular defense response|upregulation of cellular defense response|up-regulation of cellular defense response	http://purl.obolibrary.org/obo/GO_0010186	Any process that activates or increases the frequency, rate or extent of cellular defense response.	
MONDO:0015477	pinnae fistula or cyst	biolink:Disease	mondo	Orphanet:155838|ICD10:Q18.8	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0015477	Pinnae fistula or cyst is a rare otorhinolaryngological malformation characterized by the presence of a, usually unilateral, sinus tract or cyst located in the vicinity of the auricle (most frequently identified by a small pit near the anterior margin of the first ascending portion of the helix). Typically, patients are asymptomatic and usually only present symptoms (pain, erythema, discharge from pit) in relation to infection. Renal and inner ear anomalies may be associated.	ORPHA:155838
MONDO:0015472	obsolete cryptococcosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015472		
HGNC:30500	PRRT2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30500		
MONDO:0015471	benign focal seizures of adolescence	biolink:Disease	mondo	UMLS:C4275141|SCTID:715425000|Orphanet:1544|ICD10:G40.8	ordo_disease	adolescent benign focal crisis	http://purl.obolibrary.org/obo/MONDO_0015471		UMLS:C4275141|SNOMEDCT:715425000|ORPHA:1544
MONDO:0015470	familial isolated dilated cardiomyopathy	biolink:Disease	mondo	Orphanet:154|ICD10:I42.0|UMLS:CN199609	ordo_disease	familial or idiopathic dilated cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0015470	Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia.	UMLS:CN199609|ORPHA:154
MONDO:0015476	cysts and fistulae of the face and oral cavity	biolink:Disease	mondo	Orphanet:155835|ICD10:Q18.0	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015476		ORPHA:155835
MONDO:0015475	rare head and neck malformation	biolink:Disease	mondo	UMLS:CN226686|Orphanet:155832	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0015475		ORPHA:155832|UMLS:CN226686
GO:0097734	extracellular exosome biogenesis	biolink:OntologyClass	mondo			exosome production|exosome assembly or secretion|intraluminal vesicle assembly|exosome biogenesis|ILV assembly	http://purl.obolibrary.org/obo/GO_0097734	The assembly and secretion of an extracellular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane.	
MONDO:0015474	cryptosporidiosis	biolink:Disease	mondo	UMLS:C0010418|SCTID:66160001|ICD9:007.4|MedDRA:10011502|NCIT:C128408|Orphanet:1549|DOID:1733|UMLS:C0520796|ICD10:A07.2|MESH:D003457|COHD:194265|GARD:0006219	ordo_disease|gard_rare	Cryptosporidium disease or disorder|Cryptosporidium infection|intestinal cryptosporidiosis|Cryptosporidial gastroenteritis|Cryptosporidioses|infection by Cryptosporidium|Cryptosporidium infectious disease|Cryptosporidium caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0015474	Intestinal infection with organisms of the genus Cryptosporidium. It occurs in both animals and humans. Symptoms include severe diarrhea.	UMLS:C0010418|SNOMEDCT:66160001|DOID:1733|MESH:D003457|UMLS:C0520796|MEDDRA:10011502|ORPHA:1549|NCIT:C128408
MONDO:0015473	cryptorchidism-arachnodactyly-intellectual disability syndrome	biolink:Disease	mondo	UMLS:CN199616|ICD10:Q87.8|Orphanet:1548|GARD:0000860	ordo_malformation_syndrome	cryptorchidism arachnodactyly intellectual deficit|Van Benthem-Driessen-Hanveld syndrome	http://purl.obolibrary.org/obo/MONDO_0015473	Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970.	UMLS:CN199616|ORPHA:1548
MONDO:0003498	obsolete gallbladder squamous cell carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003498		
HGNC:29515	PLEKHG2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29515		
MONDO:0003499	sarcomatoid squamous cell skin carcinoma	biolink:Disease	mondo	NCIT:C4666|SCTID:254653005|UMLS:C0349656|DOID:5536		spindle cell squamous carcinoma of skin|spindle cell squamous carcinoma of the skin|spindle cell (sarcomatoid) squamous cell skin carcinoma|spindle cell (sarcomatoid) squamous cell carcinoma|spindle cell squamous cell carcinoma|squamous cell carcinoma, sarcomatoid	http://purl.obolibrary.org/obo/MONDO_0003499	A squamous cell carcinoma of the skin with a prominent spindle cell component.	UMLS:C0349656|NCIT:C4666|SNOMEDCT:254653005|DOID:5536
MONDO:0003494	ovarian squamous cell carcinoma	biolink:Disease	mondo	DOID:5531|UMLS:C2019443|EFO:1000432|NCIT:C40093		ovary squamous cell carcinoma|ovarian squamous cell cancer|ovarian squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0003494	A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor.	UMLS:C2019443|NCIT:C40093|DOID:5531
NCBITaxon:10404	Hepadnaviridae	organism taxon	mondo	GC_ID:1		hepatitis B-type viruses	http://purl.obolibrary.org/obo/NCBITaxon_10404		
MONDO:0003495	ovarian squamous cell neoplasm	biolink:Disease	mondo	DOID:5532|UMLS:C1518739|NCIT:C40092		ovarian squamous cell tumor|ovary squamous cell neoplasm|ovarian squamous cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0003495	A squamous cell tumor that arises from the ovary and is not associated with a germ cell tumor.	UMLS:C1518739|NCIT:C40092|DOID:5532
NCBITaxon:10405	Orthohepadnavirus	organism taxon	mondo	GC_ID:1		mammalian hepatitis B-type viruses	http://purl.obolibrary.org/obo/NCBITaxon_10405		
MONDO:0003496	obsolete endometrial squamous cell carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003496		
MONDO:0003497	renal pelvis squamous cell carcinoma	biolink:Disease	mondo	NCIT:C7732|UMLS:C0238409|DOID:5534		epidermoid carcinoma of the kidney pelvis|kidney pelvis squamous cell carcinoma|kidney pelvis epidermoid carcinoma|squamous cell carcinoma of the renal pelvis|kidney renal pelvis squamous cell cancer|renal pelvis squamous cell carcinoma|squamous cell carcinoma of renal pelvis|squamous cell carcinoma of the kidney pelvis|squamous cell carcinoma of kidney pelvis|renal pelvis epidermoid carcinoma|epidermoid carcinoma of renal pelvis|epidermoid carcinoma of the renal pelvis|epidermoid carcinoma of kidney pelvis|renal pelvis squamous cell cancer	http://purl.obolibrary.org/obo/MONDO_0003497	A squamous cell carcinoma that involves the renal pelvis.	NCIT:C7732|UMLS:C0238409|DOID:5534
NCBITaxon:10407	Hepatitis B virus	organism taxon	mondo	GC_ID:1		human hepatitis B virus HBV|HBV|hepatitis B virus (HBV)|hepatitis B virus, HBV|Human hepatitis B virus|hepatitis B virus HBV	http://purl.obolibrary.org/obo/NCBITaxon_10407		
HGNC:29514	GLDN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29514		
MONDO:0003490	ampulla of vater squamous cell carcinoma	biolink:Disease	mondo	NCIT:C27417|DOID:5527|UMLS:C1332251		hepatopancreatic ampulla squamous cell carcinoma|ampulla of Vater squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0003490	A carcinoma with squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss.	UMLS:C1332251|DOID:5527|NCIT:C27417
MONDO:0003491	obsolete rectum squamous cell carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003491		
MONDO:0003492	lacrimal gland squamous cell carcinoma	biolink:Disease	mondo	UMLS:C1334360|DOID:5529|NCIT:C6092		squamous cell carcinoma of the lacrimal gland|lacrimal gland squamous cell carcinoma|epidermoid carcinoma of the lacrimal gland|epidermoid carcinoma of lacrimal gland|lacrimal gland epidermoid carcinoma|squamous cell carcinoma of lacrimal gland	http://purl.obolibrary.org/obo/MONDO_0003492	A squamous cell carcinoma that involves the lacrimal gland.	UMLS:C1334360|DOID:5529|NCIT:C6092
MONDO:0003493	thymus squamous cell carcinoma	biolink:Disease	mondo	DOID:5530|EFO:1000579|UMLS:C1336082|NCIT:C6455		Thymus squamous cell carcinoma|thymic squamous cell carcinoma|epidermoid thymic carcinoma|squamous cell carcinoma of Thymus|thymus squamous cell carcinoma|squamous cell carcinoma of the Thymus	http://purl.obolibrary.org/obo/MONDO_0003493	A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation.	NCIT:C6455|UMLS:C1336082|DOID:5530
MONDO:0015469	craniosynostosis	biolink:Disease	mondo	OMIMPS:123100|Orphanet:1531|MedDRA:10048907|NCIT:C84655|ICD10:Q75.0|DOID:2340|UMLS:C0010278|MedDRA:10049889|GARD:0006209|MESH:D003398	ordo_group_of_disorders	premature closure of cranial sutures|CSO|craniosynostosis syndrome	http://purl.obolibrary.org/obo/MONDO_0015469	Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome.	MEDDRA:10049889|ORPHA:1531|MEDDRA:10048907|DOID:2340|UMLS:C0010278|NCIT:C84655|MESH:D003398
MONDO:0015468	craniosynostosis-cataract syndrome	biolink:Disease	mondo	Orphanet:1530|UMLS:CN226684|ICD10:Q75.0	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0015468		UMLS:CN226684|ORPHA:1530
HP:0008905	Rhizomelia	biolink:PhenotypicFeature	mondo	UMLS:C1866730	hposlim_core	Short stature, rhizomelic|Rhizomelic shortening|Rhizomelic short stature|Disproportionately short upper portion of limb|Rhizomelic short limbs|Rhizomelic limb shortening|Symmetrical rhizomelic limb shortening|Rhizomelic dwarfism	http://purl.obolibrary.org/obo/HP_0008905	Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).	
MONDO:0015467	craniosynostosis, Philadelphia type	biolink:Disease	mondo	ICD10:Q87.0|SCTID:720818003|Orphanet:1527|GARD:0001601	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0015467	Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A.	ORPHA:1527|SNOMEDCT:720818003
MONDO:0015466	cranio-osteoarthropathy	biolink:Disease	mondo	SCTID:720753002|GARD:0001564|UMLS:CN199601|Orphanet:1525|ICD10:M89.4	ordo_malformation_syndrome|gard_rare	cranio osteoarthropathy|Currarino disease|Reginato-Schiapachasse syndrome|Currarino idiopathic osteoarthropathy	http://purl.obolibrary.org/obo/MONDO_0015466	Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.	ORPHA:1525|SNOMEDCT:720753002|UMLS:CN199601|UMLS:C2930922
MONDO:0015461	short rib-polydactyly syndrome	biolink:Disease	mondo	MESH:D012779|UMLS:C0036996|ICD9:756.3|SCTID:205484001|Orphanet:1505|NCIT:C85065|ICD10:Q77.2	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015461	Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial).	MESH:D012779|NCIT:C85065|UMLS:C0036996|SNOMEDCT:205484001|ORPHA:1505
MONDO:0015460	obsolete adrenocortical carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015460	A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival.	
GO:0097746	blood vessel diameter maintenance	biolink:OntologyClass	mondo			regulation of vasodilation|regulation of vasodilatation|blood vessel diameter homeostasis|regulation of blood vessel diameter|regulation of blood vessel size	http://purl.obolibrary.org/obo/GO_0097746	Any process that modulates the diameter of blood vessels.	
MONDO:0015465	craniometaphyseal dysplasia	biolink:Disease	mondo	DOID:0080033|OMIMPS:123000|ICD10:Q78.8|ICD9:756.89|SCTID:36601008|Orphanet:1522	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0015465	Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.	SNOMEDCT:36601008|DOID:0080033|ORPHA:1522
MONDO:0015464	craniofrontonasal dysplasia-Poland anomaly syndrome	biolink:Disease	mondo	Orphanet:1521|ICD10:Q87.8|SCTID:720757001|UMLS:CN199598	ordo_malformation_syndrome	Webster-Deming syndrome	http://purl.obolibrary.org/obo/MONDO_0015464	Cranio-fronto-nasal dysplasia - Poland anomaly is a polymalformative syndrome characterised by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Less than ten cases have been described so far.	UMLS:CN199598|SNOMEDCT:720757001|ORPHA:1521
MONDO:0015463	craniodigital syndrome-intellectual disability syndrome	biolink:Disease	mondo	ICD10:Q87.0|GARD:0004776|Orphanet:1514|SCTID:763665007|MESH:C537528|UMLS:C1839311	ordo_malformation_syndrome|gard_rare	craniodigital-intellectual disability syndrome|Scott craniodigital syndrome with mental retardation|craniodigital syndrome-intellectual disability, Scott type|Scott Bryant Graham syndrome|craniodigital syndrome with mental retardation|Scott-Bryant-Graham syndrome|craniodigital syndrome with intellectual disability|Scott craniodigital syndrome with intellectual disability|craniodigital syndrome-mental retardation, Scott type|Scott craniodigital syndrome	http://purl.obolibrary.org/obo/MONDO_0015463	Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.	SNOMEDCT:763665007|http://identifiers.org/omim/312860|MESH:C537528|ORPHA:1514|UMLS:C1839311
MONDO:0015462	thin ribs-tubular bones-dysmorphism syndrome	biolink:Disease	mondo	MESH:C537595|Orphanet:1506|UMLS:C2931543|ICD10:Q87.5	ordo_malformation_syndrome	Sharma-Kapoor-Ramji syndrome	http://purl.obolibrary.org/obo/MONDO_0015462		UMLS:C2931543|MESH:C537595|ORPHA:1506
GO:0009185	ribonucleoside diphosphate metabolic process	biolink:OntologyClass	mondo			ribonucleoside diphosphate metabolism	http://purl.obolibrary.org/obo/GO_0009185	The chemical reactions and pathways involving a ribonucleoside diphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with diphosphate on the sugar.	
GO:0009179	purine ribonucleoside diphosphate metabolic process	biolink:OntologyClass	mondo			purine ribonucleoside diphosphate metabolism	http://purl.obolibrary.org/obo/GO_0009179	The chemical reactions and pathways involving purine ribonucleoside diphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with diphosphate on the sugar.	
UBERON:0036068	subglottis	biolink:AnatomicalEntity	mondo			infraglottic part of larynx|subglottic larynx|subglottic region	http://purl.obolibrary.org/obo/UBERON_0036068	The lower portion of the larynx, extending from just beneath the vocal cords down to the top of the trachea.	
HGNC:17513	HOMER2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17513		
UBERON:0036073	respiratory primordium mesenchyme	biolink:AnatomicalEntity	mondo			respiratory primordium associated mesenchyme	http://purl.obolibrary.org/obo/UBERON_0036073		
UBERON:0036072	respiratory primordium epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0036072		
UBERON:0036074	vein of vestibular aqueduct	biolink:AnatomicalEntity	mondo			vena aqueductus vestibuli|vestibular aqueduct vein	http://purl.obolibrary.org/obo/UBERON_0036074	A vein that leaves the vestibule through an individual bone canal running parallel to the vestibular aqueduct up to the dura of the posterior side of the petrosa in the area of the endolymphatic sac. It then opens in the inferior petrosal sinus or the jugular bulb. The vein receives other branches from the bone, dura and sac.	
GO:0009161	ribonucleoside monophosphate metabolic process	biolink:OntologyClass	mondo			ribonucleoside monophosphate metabolism	http://purl.obolibrary.org/obo/GO_0009161	The chemical reactions and pathways involving a ribonucleoside monophosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with phosphate on the sugar.	
GO:0009156	ribonucleoside monophosphate biosynthetic process	biolink:OntologyClass	mondo			ribonucleoside monophosphate biosynthesis|ribonucleoside monophosphate anabolism|ribonucleoside monophosphate synthesis|ribonucleoside monophosphate formation	http://purl.obolibrary.org/obo/GO_0009156	The chemical reactions and pathways resulting in the formation of a ribonucleoside monophosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with phosphate on the sugar.	
GO:0009165	nucleotide biosynthetic process	biolink:OntologyClass	mondo			nucleotide anabolism|nucleotide synthesis|nucleotide formation|nucleotide biosynthesis	http://purl.obolibrary.org/obo/GO_0009165	The chemical reactions and pathways resulting in the formation of nucleotides, any nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates).	
GO:0009166	nucleotide catabolic process	biolink:OntologyClass	mondo			nucleotide degradation|nucleotide breakdown|nucleotide catabolism	http://purl.obolibrary.org/obo/GO_0009166	The chemical reactions and pathways resulting in the breakdown of nucleotides, any nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates).	
GO:0010155	regulation of proton transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010155	Any process that modulates the frequency, rate or extent of proton transport into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
GO:0034101	erythrocyte homeostasis	biolink:OntologyClass	mondo			red blood cell homeostasis|RBC homeostasis	http://purl.obolibrary.org/obo/GO_0034101	Any process of regulating the production and elimination of erythrocytes within an organism.	
GO:0009167	purine ribonucleoside monophosphate metabolic process	biolink:OntologyClass	mondo			purine ribonucleoside monophosphate metabolism	http://purl.obolibrary.org/obo/GO_0009167	The chemical reactions and pathways involving purine ribonucleoside monophosphate, a compound consisting of a purine base linked to a ribose sugar esterified with phosphate on the sugar.	
GO:0009168	purine ribonucleoside monophosphate biosynthetic process	biolink:OntologyClass	mondo			purine ribonucleoside monophosphate anabolism|purine ribonucleoside monophosphate synthesis|purine ribonucleoside monophosphate biosynthesis|purine ribonucleoside monophosphate formation	http://purl.obolibrary.org/obo/GO_0009168	The chemical reactions and pathways resulting in the formation of purine ribonucleoside monophosphate, a compound consisting of a purine base linked to a ribose sugar esterified with phosphate on the sugar.	
GO:0034103	regulation of tissue remodeling	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0034103	Any process that modulates the frequency, rate, or extent of tissue remodeling.	
GO:0034104	negative regulation of tissue remodeling	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0034104	Any process that stops, prevents, or reduces the frequency, rate, or extent of tissue remodeling.	
GO:0034105	positive regulation of tissue remodeling	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0034105	Any process that activates or increases the frequency, rate, or extent of tissue remodeling.	
MONDO:0003425	ophthalmoplegia	biolink:Disease	mondo	ICD9:378.56|MESH:D009886|DOID:539|SCTID:78097002		oculomotor paralysis|total ophthalmoplegia	http://purl.obolibrary.org/obo/MONDO_0003425	Weakness or paralysis of at least one of the muscles controlling the movement of the eye. It results from degeneration of the muscles or the neural pathways involved in the eye movement. Representative disorders causing ophthalmoplegia include ocular myopathies and multiple sclerosis.	SNOMEDCT:78097002|NCIT:C79697|DOID:539|MESH:D009886
MONDO:0003426	clear cell adenoma	biolink:Disease	mondo	DOID:5390|UMLS:C0334315|ICDO:8310/0|NCIT:C4151		clear cell adenoma (morphologic abnormality)|adenoma, clear cell, benign|clear cell adenoma	http://purl.obolibrary.org/obo/MONDO_0003426	A benign neoplasm composed of glands containing epithelial clear cells.	NCIT:C4151|UMLS:C0334315|DOID:5390
MONDO:0003427	bronchus adenoma	biolink:Disease	mondo	NCIT:C3494|ICDO:8260/0|DOID:5391|UMLS:C0149845		bronchial adenoma, NOS|adenoma, bronchial, benign|bronchial adenoma|bronchial adenoma NOS (morphologic abnormality)|type II pneumocyte adenoma|lung papillary adenoma|papillary adenoma of type II pneumocytes|adenoma of the bronchus|adenoma of bronchus|peripheral papillary tumor of type II pneumocytes|bronchus adenoma	http://purl.obolibrary.org/obo/MONDO_0003427	A benign lung neoplasm characterized by the presence of a fibrovascular stroma lined by cuboidal to columnar cells. Patients are usually asymptomatic and it is incidentally discovered as a pulmonary nodule during chest X-ray examination. Surgical excision is curative.	UMLS:C0149845|NCIT:C3494|DOID:5391
MONDO:0003428	brain hemangioma	biolink:Disease	mondo	DOID:5393|NCIT:C7739|UMLS:C0238814		brain hemangioma|brain angioma	http://purl.obolibrary.org/obo/MONDO_0003428	A hemangioma arising from the brain.	NCIT:C7739|UMLS:C0238814|DOID:5393
MONDO:0003421	mixed cell adenoma	biolink:Disease	mondo	UMLS:C0334323|ICDO:8323/0|NCIT:C4157|DOID:5385		mixed cell adenoma	http://purl.obolibrary.org/obo/MONDO_0003421	An adenoma characterized by the presence of a mixed epithelial cell population.	UMLS:C0334323|DOID:5385|NCIT:C4157
MONDO:0003422	lung adenoma	biolink:Disease	mondo	UMLS:C0345964|SCTID:254642004|NCIT:C4455|DOID:5386		lung adenoma|adenoma of lung|pulmonary adenoma|adenoma of the lung	http://purl.obolibrary.org/obo/MONDO_0003422	A benign, well circumscribed epithelial neoplasm that arises from the bronchus or the lung parenchyma. Representative examples include alveolar adenoma, papillary adenoma, and mucus gland adenoma.	NCIT:C4455|SNOMEDCT:254642004|UMLS:C0345964|DOID:5386
HGNC:9460	PROZ	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9460		
MONDO:0003423	middle ear adenoma	biolink:Disease	mondo	NCIT:C6834|UMLS:C1334759|SCTID:734078009|DOID:5387		adenoma of middle ear|middle ear adenoma|adenoma of the middle ear	http://purl.obolibrary.org/obo/MONDO_0003423	A benign, well-circumscribed glandular neoplasm that arises from the middle ear and may exhibit neuroendocrine differentiation. It usually presents with conductive hearing loss.	NCIT:C6834|UMLS:C1334759|DOID:5387|SNOMEDCT:734078009
MONDO:0003424	oncocytic adenoma	biolink:Disease	mondo	UMLS:C1510502|ICDO:8290/0|EFO:1001079|NCIT:C3759|DOID:5389		oncocytic adenoma|follicular adenoma, oxyphilic cell|oncocytoma|oxyphilic adenoma	http://purl.obolibrary.org/obo/MONDO_0003424	A benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic adenomas of the thyroid gland, parathyroid gland, and pituitary gland.	NCIT:C3759|DOID:5389|UMLS:C1510502
MONDO:0015409	isolated congenital syngnathia	biolink:Disease	mondo	SCTID:763317002|Orphanet:141214|ICD10:Q67.4	ordo_malformation_syndrome	isolated congenital maxillomandibular fusion	http://purl.obolibrary.org/obo/MONDO_0015409	Isolated congenital syngnathia is a very rare developmental defect during embryogenesis characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thive, malnutrition and/or temporomandibular joint ankylosis.	SNOMEDCT:763317002|ORPHA:141214
MONDO:0003420	bile duct cystadenoma	biolink:Disease	mondo	UMLS:C0334285|DOID:5384|NCIT:C4129|ICDO:8161/0		bile duct mucinous cystic neoplasm|cystadenoma of the bile duct|bile duct cystadenoma|cystadenoma of bile duct|bile duct cystadenoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003420	An epithelial, usually multiloculated neoplasm arising from the intrahepatic or extrahepatic bile ducts. It occurs predominantly in females. Signs and symptoms include abdominal mass, abdominal pain, and jaundice. Morphologically, the cystic spaces are lined by columnar epithelium and contain mucinous or serous fluid.	UMLS:C0334285|DOID:5384|NCIT:C4129
MONDO:0015408	diffuse lymphatic malformation	biolink:Disease	mondo	Orphanet:141209|SCTID:703298001|UMLS:C0343090|ICD10:I89.8	ordo_clinical_subtype	disseminated lymphangiomatosis|diffuse lymphangioma|disseminated lymphangioma|diffuse lymphangiomatosis|generalized lymphatic anomaly|disseminated lymphatic malformation|Gla	http://purl.obolibrary.org/obo/MONDO_0015408		SNOMEDCT:703298001|ORPHA:141209|UMLS:C0343090
NCBITaxon:1824	Nocardia asteroides	organism taxon	mondo	GC_ID:11		Asteroides asteroides|Cladothrix asteroides|Discomyces asteroides|Actinomyces eppinger|Actinomyces eppingeri|Actinomyces asteroides|Proactinomyces asteroides|Oospora asteroides|Streptotrix asteroides|Streptothrix eppingerii	http://purl.obolibrary.org/obo/NCBITaxon_1824		
MONDO:0015414	paramedian nasal cleft	biolink:Disease	mondo	ICD10:Q18.8|SCTID:204521002|Orphanet:141242|ICD9:748.1	ordo_morphological_anomaly	alar rim cleft|cleft nose|alar cleft|isolated coloboma of the nose|Tessier number 1 cleft|isolated cleft of the ala nasi	http://purl.obolibrary.org/obo/MONDO_0015414	Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved.	SNOMEDCT:204521002|ORPHA:141242
UBERON:0000060	anatomical wall	biolink:AnatomicalEntity	mondo			wall|wall of organ|organ wall	http://purl.obolibrary.org/obo/UBERON_0000060	Organ component adjacent to an organ cavity and which consists of a maximal aggregate of organ component layers.	
MONDO:0015413	median cleft of the upper lip and maxilla	biolink:Disease	mondo	Orphanet:141239|ICD10:Q18.8	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0015413	Median cleft of the upper lip and maxilla is a rare, congenital, developmental defect during embryogenesis characterized by a midline vertical cleft through the upper lip and premaillary bone (can also involve the nasal septum and central nervous system). The phenotypic spectrum is highly variable (ranging from a simple vermillion notch to a wide complete cleft) and hypo/hypertelorism, telecanthus, monophthalmia, flat or cleft nose, wide columella, median alveolar cleft and cranial malformations may be associated.	ORPHA:141239
UBERON:0000061	anatomical structure	biolink:AnatomicalEntity	mondo			connected biological structure|biological structure	http://purl.obolibrary.org/obo/UBERON_0000061	Material anatomical entity that is a single connected structure with inherent 3D shape generated by coordinated expression of the organism's own genome.	
MONDO:0015412	median facial cleft	biolink:Disease	mondo	Orphanet:141234|ICD10:Q18.8	ordo_group_of_disorders	Tessier number 0-14 and 30 facial cleft|Midline facial cleft	http://purl.obolibrary.org/obo/MONDO_0015412		ORPHA:141234
UBERON:0000062	organ	biolink:AnatomicalEntity	mondo			body organ|anatomical unit|element	http://purl.obolibrary.org/obo/UBERON_0000062	Anatomical structure that performs a specific function or group of functions [WP].	
UBERON:0000063	organ subunit	biolink:AnatomicalEntity	mondo			segment of organ|organ segment|organ region with fixed fiat boundary	http://purl.obolibrary.org/obo/UBERON_0000063	A part of an organ that constitutes a distinct modular sub-unit. In some cases, the organ may also contain other sub-units of identical or similar types, in other cases this may be a distinct entity.	
MONDO:0015411	facial cleft	biolink:Disease	mondo	Orphanet:141229|ICD10:Q18.8|NCIT:C124510|SCTID:92821006	ordo_group_of_disorders	craniofacial cleft|prosoposchisis|cleft face	http://purl.obolibrary.org/obo/MONDO_0015411	A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences.	NCIT:C124510|ORPHA:141229|SNOMEDCT:92821006|UMLS:C0685787
MONDO:0015418	lateral facial cleft	biolink:Disease	mondo	Orphanet:141269|ICD10:Q18.8	ordo_group_of_disorders	Tessier number 7 facial cleft|transverse facial cleft	http://purl.obolibrary.org/obo/MONDO_0015418		ORPHA:141269
MONDO:0015417	Tessier number 6 facial cleft	biolink:Disease	mondo	ICD10:Q18.8|Orphanet:141265	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0015417		ORPHA:141265
MONDO:0015416	Tessier number 5 facial cleft	biolink:Disease	mondo	ICD10:Q18.8|Orphanet:141261	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0015416		ORPHA:141261
MONDO:0015415	oblique facial cleft	biolink:Disease	mondo	ICD10:Q18.8|Orphanet:141253	ordo_group_of_disorders	Orbitofacial cleft	http://purl.obolibrary.org/obo/MONDO_0015415		ORPHA:141253
UBERON:0000068	embryo stage	biolink:AnatomicalEntity	mondo			embryonic stage|embryogenesis	http://purl.obolibrary.org/obo/UBERON_0000068	A life cycle stage that starts with fertilization and ends with the fully formed embryo.	
HGNC:9461	PRPH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9461		
HGNC:9462	PRPS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9462		
UBERON:0000064	organ part	biolink:AnatomicalEntity	mondo			cardinal organ part|regional part of organ	http://purl.obolibrary.org/obo/UBERON_0000064	A multicellular structure that is a part of an organ.	
MONDO:0015410	nasal dorsum fistula/cyst	biolink:Disease	mondo	ICD10:Q18.8|Orphanet:141219	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0015410		ORPHA:141219
MONDO:0003418	obsolete bile duct adenoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003418		
MONDO:0003419	Bartholin gland adenoma	biolink:Disease	mondo	DOID:5382|NCIT:C40299|UMLS:C1511048		Bartholin gland adenoma|major vestibular gland adenoma|Bartholin's gland adenoma	http://purl.obolibrary.org/obo/MONDO_0003419	A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of clustered glands and tubules lined by mucin-secreting epithelial cells.	NCIT:C40299|DOID:5382|UMLS:C1511048
UBERON:0000065	respiratory tract	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0000065	Anatomical structure that is part of the respiratory system. In mammals consists of upper and lower tracts	
UBERON:0000066	fully formed stage	biolink:AnatomicalEntity	mondo			fully formed animal stage|adult stage|juvenile-adult stage	http://purl.obolibrary.org/obo/UBERON_0000066	The stage of development at which the animal is fully formed, including immaturity and maturity. Includes both sexually immature stage, and adult stage.	
CHEBI:23443	cyclic amide	biolink:ChemicalSubstance	mondo			cyclic amides|cyclic amide	http://purl.obolibrary.org/obo/CHEBI_23443		
MONDO:0003436	obsolete lung oat cell carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003436		
MONDO:0003437	occult small cell lung carcinoma	biolink:Disease	mondo	NCIT:C6683|DOID:5414|UMLS:C1335099		lung occult small cell carcinoma|occult small cell carcinoma of lung|occult small cell carcinoma of the lung|occult small cell lung carcinoma	http://purl.obolibrary.org/obo/MONDO_0003437	A small cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed.	UMLS:C1335099|DOID:5414|NCIT:C6683
MONDO:0003438	combined small cell lung carcinoma	biolink:Disease	mondo	UMLS:C1333125|ONCOTREE:CSCLC|NCIT:C9137|ICDO:8045/3|DOID:5421		combined small and large cell lung carcinoma|small cell and large cell lung carcinoma|combined type small cell lung carcinoma|combined small cell lung carcinoma|CSCLC|combined type small cell carcinoma of lung|mixed small cell and large cell carcinoma of lung|combined small cell carcinoma of the lung|mixed small cell and large cell carcinoma of the lung|combined small cell and large cell lung carcinoma|combined small cell lung cancer|combined small and large cell lung cancer|mixed small cell and large cell lung carcinoma|lung combined type small cell carcinoma|combined small cell carcinoma of lung|small cell and large cell carcinoma of lung|combined type small cell carcinoma of the lung|small cell and large cell carcinoma of the lung	http://purl.obolibrary.org/obo/MONDO_0003438	A morphologic variant of small cell lung carcinoma in combination with a non-small cell carcinoma.	UMLS:C1333125|NCIT:C9137|DOID:5421
FOODON:03000001	food peeling process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03000001	"peeling" is the process of removing the outer covering, layer or skin from a fruit, vegetable, or plant or animal (such as a shrimp).	
MONDO:0003439	urinary bladder villous adenoma	biolink:Disease	mondo	UMLS:C1336893|DOID:5427|NCIT:C7414		villous adenoma of urinary bladder|villous adenoma of the urinary bladder|bladder villous adenoma|urinary bladder villous adenoma	http://purl.obolibrary.org/obo/MONDO_0003439	An exophytic glandular neoplasm of the bladder, morphologically similar to its intestinal counterpart. It often coexists with in situ or infiltrating bladder adenocarcinoma.	UMLS:C1336893|DOID:5427|NCIT:C7414
MONDO:0003432	strabismus	biolink:Disease	mondo	ICD9:378.7|DOID:540|ICD10:H50.89|ICD9:378.40|ICD10:H50.8|UMLS:C0038379|COHD:4329707|NCIT:C35040|SCTID:22066006		strabismus|squint	http://purl.obolibrary.org/obo/MONDO_0003432	Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected.	SNOMEDCT:22066006|NCIT:C35040|UMLS:C0038379|DOID:540
MONDO:0003433	water-clear cell adenoma	biolink:Disease	mondo	NCIT:C4155|DOID:5401|ICDO:8322/0|UMLS:C0334321		water-clear cell adenoma (morphologic abnormality)|parathyroid gland water-clear cell adenoma	http://purl.obolibrary.org/obo/MONDO_0003433	A rare parathyroid gland adenoma composed of neoplastic cells with abundant cytoplasm. The cytoplasm of the neoplastic cells is usually not entirely clear, and is often variably vacuolated, foamy, and granular.	UMLS:C0334321|DOID:5401|NCIT:C4155
MONDO:0003434	vaginal adenoma	biolink:Disease	mondo	UMLS:C1519913|DOID:5402|NCIT:C40256		vaginal adenoma|vagina adenoma	http://purl.obolibrary.org/obo/MONDO_0003434	A glandular epithelial neoplasm that arises from the vagina and shows intestinal differentiation.	NCIT:C40256|DOID:5402|UMLS:C1519913
MONDO:0003435	microcystic adenoma	biolink:Disease	mondo	NCIT:C3685|DOID:5403|UMLS:C0205648|ICDO:8202/0		microcystic adenoma|microcystic adenoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003435	A benign epithelial neoplasm characterized by a microcystic pattern. The cystic spaces are lined by small cuboidal cells without evidence of significant cytologic atypia.	NCIT:C3685|DOID:5403|UMLS:C0205648
UBERON:0014699	extraembryonic venous system	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0014699	A venous system that overlaps a umbilical cord and is part of a entire extraembryonic component.	
MONDO:0003430	prolactin producing pituitary tumor	biolink:Disease	mondo	NCIT:C7910|UMLS:C0278863|DOID:5396		prolactin secreting neoplasm of the pituitary|prolactin secreting pituitary gland tumor|prolactin secreting neoplasm of pituitary|prolactin producing pituitary gland neoplasm|prolactin secreting pituitary tumor|prolactin-producing pituitary gland tumor|prolactin producing neoplasm of the pituitary gland|PRL producing pituitary gland neoplasm|prolactin secreting pituitary neoplasm|prolactin-producing pituitary gland neoplasm|prolactin producing neoplasm of pituitary gland|prolactin secreting tumor of pituitary|prolactin producing tumor of the pituitary gland|prolactin producing neoplasm of the pituitary|prolactin producing pituitary gland tumor|prolactin secreting pituitary gland neoplasm|prolactin producing neoplasm of pituitary|prolactin producing tumor of pituitary gland|prolactin producing pituitary tumour|prolactin producing pituitary tumor|prolactin producing tumor of the pituitary|prolactin producing tumor of pituitary|malignant prolactinoma|malignant prolactin producing neoplasm of pituitary gland|prolactin secreting tumor of the pituitary gland|prolactin secreting tumor of pituitary gland|prolactin-producing pituitary gland carcinoma|prolactin secreting tumor of the pituitary|prolactin secreting neoplasm of the pituitary gland|prolactin secreting neoplasm of pituitary gland|prolactin producing pituitary neoplasm	http://purl.obolibrary.org/obo/MONDO_0003430	An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces prolactin.	DOID:5396|UMLS:C0278863|NCIT:C7910
MONDO:0003431	lipoadenoma	biolink:Disease	mondo	UMLS:C0334325|NCIT:C4159|ICDO:8324/0|DOID:5398		adenolipoma, benign|lipoadenoma|lipoadenoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003431	An adenoma in which the neoplastic epithelial cells are admixed with adipose tissue cells.	DOID:5398|NCIT:C4159|UMLS:C0334325
FOODON:03000003	obsolete: brown shrimp	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03000003		
FOODON:03000004	obsolete: green mud crab	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03000004		
UBERON:0014695	deep auricular artery	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0014695	The deep auricular artery often arises in common with the anterior tympanic artery. It ascends in the substance of the parotid gland, behind the temporomandibular articulation, pierces the cartilaginous or bony wall of the external acoustic meatus, and supplies its cuticular lining and the outer surface of the tympanic membrane. It gives a branch to the temporomandibular joint.	
FOODON:03000005	obsolete: Indian prawn	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03000005		
MONDO:0015403	non-involuting congenital hemangioma	biolink:Disease	mondo	Orphanet:141179|UMLS:C1275417|SCTID:703295003|GARD:0010890|ICD10:D18.0	gard_rare|ordo_disease	NICH|noninvoluting congenital hemangioma	http://purl.obolibrary.org/obo/MONDO_0015403	Non-involuting congenital hemangioma (NICH) is a rare type of infantile hemangioma, which is a tumor that forms from the abnormal growth of blood vessels in the skin. NICH looks like an oval,purplish mark or bump that can occur on any part of the body. NICH is present from birth (congenital) and increases in size as the child grows. Unlike other hemangiomas, NICH do not disappear spontaneously (involute).	UMLS:C1275417|ORPHA:141179|SNOMEDCT:703295003
MONDO:0015402	mandibular arteriovenous malformation	biolink:Disease	mondo	SCTID:703334000|ICD10:Q27.3|Orphanet:141174	ordo_malformation_syndrome	arteriovenous malformation of mandible	http://purl.obolibrary.org/obo/MONDO_0015402	Mandibular arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the mandibular area, commonly presenting with minor gingival bleeding, dental loosening, lower lip numbness, facial deformity and malocclusion. This usually high-flow vascular malformation may also present with potentially life-threatening, spontaneous, or tooth extraction-induced, hemorrhagic shock.	SNOMEDCT:703334000|ORPHA:141174
MONDO:0015401	maxillary arteriovenous malformation	biolink:Disease	mondo	ICD10:Q27.3|Orphanet:141171|SCTID:703335004	ordo_malformation_syndrome	arteriovenous malformation of maxilla	http://purl.obolibrary.org/obo/MONDO_0015401	Maxillary arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the maxillofacial area, usually presenting with chronic, intermittent, and potentially life-threatening, hemorrhage. Association with infection, pain, pressure, pulsation, swelling, facial asymmetry, headache, ocular pain, tinnitus, otalgia, epistaxis, toothache and/or teeth mobility and compressibility into their sockets is possible, although it may also be asymptomatic.	SNOMEDCT:703335004|ORPHA:141171
MONDO:0015400	frontonasal arteriovenous malformation	biolink:Disease	mondo	ICD10:Q27.3|Orphanet:141168	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0015400	Frontonasal arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the frontonasal area. It may present with intermittent nasal bleeding, blurred vision, pustule formation and/or disfigurement. Overlying skin may be of normal appearance or may manifest a red, pulsatile mass with local rise of temperature. Other features may include pain, ulceration, excessive growth and/or congestive heart failure.	ORPHA:141168
MONDO:0015407	cerebrofacial arteriovenous metameric syndrome type 3	biolink:Disease	mondo	SCTID:703268008|UMLS:C3838691|UMLS:CN199502|Orphanet:141199|ICD10:Q28.2	ordo_malformation_syndrome	CAMS3	http://purl.obolibrary.org/obo/MONDO_0015407		UMLS:CN199502|UMLS:C3838691|SNOMEDCT:703268008|ORPHA:141199
MONDO:0015406	cerebrofacial arteriovenous metameric syndrome type 1	biolink:Disease	mondo	Orphanet:141194|SCTID:703267003|ICD10:Q28.2|UMLS:CN199501|UMLS:C3840102	ordo_malformation_syndrome	CAMS1	http://purl.obolibrary.org/obo/MONDO_0015406		UMLS:CN199501|UMLS:C3840102|ORPHA:141194|SNOMEDCT:703267003
MONDO:0015405	cerebrofacial arteriovenous metameric syndrome	biolink:Disease	mondo	ICD10:Q28.2|UMLS:C3839265|UMLS:CN199500|Orphanet:141189|SCTID:703266007	ordo_group_of_disorders	CAMS	http://purl.obolibrary.org/obo/MONDO_0015405	A disorder characterized by vascular malformations that encompasses a spectrum of phenotypic expression involving arteriovenous malformations (AVMs) of the cerebral, orbital, and facial region.	UMLS:CN199500|ORPHA:141189|SNOMEDCT:703266007|UMLS:C3839265
CHEBI:35427	ortho-fused polycyclic hydrocarbon	biolink:ChemicalSubstance	mondo			ortho-fused polycyclic hydrocarbons|ortho-fused polycyclic hydrocarbon	http://purl.obolibrary.org/obo/CHEBI_35427		
MONDO:0015404	rapidly involuting congenital hemangioma	biolink:Disease	mondo	UMLS:C1275421|ICD10:D18.0|SCTID:703294004|Orphanet:141184	ordo_disease	rich	http://purl.obolibrary.org/obo/MONDO_0015404	Rapidly involuting congenital hemangiomas (RICH) are a distinctive type of congenital hemangioma that are fully formed in utero and differ from non-involuting congenital haemangiomas (NICH) mainly because they undergo rapid postnatal involution.	UMLS:C1275421|ORPHA:141184|SNOMEDCT:703294004
UBERON:0000057	urethra	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0000057	the fibromuscular tubular canal through which urine is discharged from the bladder to the exterior via the external urinary meatus; in males, the urethra is joined by the ejaculatory ducts and serves as a passageway for semen during ejaculation, as well as a canal for urine during voiding; in females, the urethra is shorter and emerges above the vaginal opening	
UBERON:0000058	duct	biolink:AnatomicalEntity	mondo			exocrine duct|exocrine gland duct|anatomical duct|ducts	http://purl.obolibrary.org/obo/UBERON_0000058	A tubular structure that transports secreted or excreted substances.	
HGNC:9475	PRSS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9475		
UBERON:0000059	large intestine	biolink:AnatomicalEntity	mondo			intestinum crassum	http://purl.obolibrary.org/obo/UBERON_0000059	A subdivision of the digestive tract that connects the small intestine to the cloaca or anus. Lacks or has few villi[Kardong].	
UBERON:0024045	white matter of the cerebellar cortex	biolink:AnatomicalEntity	mondo			white matter of the cerebellar cortex	http://purl.obolibrary.org/obo/UBERON_0024045	White matter that lies deep to the granular cell layer of the cerebellar cortex. It contains afferents to the cerebellar cortex and axons that run between the cerebellar cortex and the deep cerebellar nuclei.	
MONDO:0003429	functioning pituitary gland adenoma	biolink:Disease	mondo	NCIT:C8388|Orphanet:314753|DOID:5395|UMLS:C0854486	ordo_group_of_disorders	secretory adenoma of the pituitary|secreting pituitary adenoma|secretory adenoma of pituitary|functioning adenoma of the pituitary gland|functioning pituitary adenoma|functioning adenoma of pituitary gland|functioning adenoma of the pituitary|functioning adenoma of pituitary|secretory adenoma of the pituitary gland|functioning pituitary gland adenoma (benign)|functioning pituitary gland adenoma|endocrine active pituitary adenoma|secretory pituitary gland adenoma|secretory pituitary adenoma|secretory adenoma of pituitary gland	http://purl.obolibrary.org/obo/MONDO_0003429	A hormone producing pituitary gland adenoma, associated with a hormonal syndrome.	ORPHA:314753|DOID:5395|NCIT:C8388|UMLS:C0854486
UBERON:0000053	macula lutea	biolink:AnatomicalEntity	mondo			macula retinae|macula|macula flava retinae|maculae	http://purl.obolibrary.org/obo/UBERON_0000053	An oval area in the retina, usually located temporal to the posterior pole of the eye and slightly below the level of the optic disk. It is characterized by the presence of a yellow pigment diffusely permeating the inner layers, contains the fovea centralis in its center, and provides the best phototopic visual acuity. It is devoid of retinal blood vessels, except in its periphery, and receives nourishment from the choriocapillaris of the choroid. (From Cline et al., Dictionary of Visual Science, 4th ed)	
HGNC:9479	LONP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9479		
HGNC:9476	HTRA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9476		
UBERON:0000055	vessel	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0000055	A tubular structure that contains, conveys body fluid, such as blood or lymph.	
UBERON:0000056	ureter	biolink:AnatomicalEntity	mondo			metanephric duct	http://purl.obolibrary.org/obo/UBERON_0000056	Muscular duct that propels urine from the kidneys to the urinary bladder, or related organs.	
HGNC:9477	PRSS12	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9477		
MONDO:0003403	testicular non-seminomatous germ cell cancer	biolink:Disease	mondo	DOID:5345|NCIT:C5027|UMLS:C1334625		testicular nonseminomatous germ cell tumor, NOS|testicular nonseminomat. GCT, NOS|testicular non-seminomatous germ cell cancer|malignant non-seminomatous germ cell cancer of testis|malignant testicular non-seminomatous germ cell tumor|malignant non-seminomatous germ cell cancer of the testis|testicular non-seminomatous germ cell tumor, malignant|testicular germ cell tumor non-seminomatous, malignant|malignant non-seminomatous germ cell tumor of the testis|malignant testicular non-seminomatous germ cell neoplasm|testicular non-seminomatous malignant germ cell neoplasm|malignant non-seminomatous germ cell neoplasm of testis|malignant non-seminomatous germ cell tumor of testis|malignant non-seminomatous germ cell neoplasm of the testis	http://purl.obolibrary.org/obo/MONDO_0003403	A classification of testicular cancers that arise in specialized sex cells called germ cells. Nonseminomas include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac tumor.	NCIT:C5027|UMLS:C1334625|DOID:5345
GO:0048762	mesenchymal cell differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0048762	The process in which a relatively unspecialized cell acquires specialized features of a mesenchymal cell. A mesenchymal cell is a loosely associated cell that is part of the connective tissue in an organism. Mesenchymal cells give rise to more mature connective tissue cell types.	
MONDO:0003404	adult yolk sac tumor	biolink:Disease	mondo	UMLS:C1332221|NCIT:C27241|DOID:5348		yolk Sac tumor|adult yolk Sac neoplasm|yolk sac tumor of adults|adult endodermal sinus tumor|adult endodermal sinus neoplasm|adult yolk Sac tumor	http://purl.obolibrary.org/obo/MONDO_0003404	A yolk sac tumor that occurs in an adult.	NCIT:C27241|UMLS:C1332221|DOID:5348
UBERON:0014680	distal interphalangeal joint of digit 5	biolink:AnatomicalEntity	mondo			distal interphalangeal joint 5|distal interphalangeal joint of digit V	http://purl.obolibrary.org/obo/UBERON_0014680	A distal interphalangeal joint that is part of a digit 5.	
MONDO:0003405	adult central nervous system germ cell tumor	biolink:Disease	mondo	UMLS:C0280796|NCIT:C6285|DOID:5349		central nervous system germ cell tumor of adults|germ cell tumor of the adult central nervous system|adult CNS germ cell neoplasm|germ cell neoplasm of the adult CNS|germ cell neoplasm of adult CNS|adult CNS germ cell tumor|adult central nervous system germ cell tumor|germ cell neoplasm of adult central nervous system|germ cell neoplasm of the adult central nervous system|germ cell tumor of the adult CNS|germ cell tumor of adult CNS|central nervous system germ cell tumor|central nervous system adult germ cell tumor|adult central nervous system germ cell neoplasm|germ cell tumor of adult central nervous system	http://purl.obolibrary.org/obo/MONDO_0003405	A germ cell tumor of the central nervous system occurring in adults.	NCIT:C6285|UMLS:C0280796|DOID:5349
MONDO:0003406	sleep-wake disorder	biolink:Disease	mondo	ICD9:307.49|DOID:535|EFO:0008568|ICD9:307.40|SCTID:39898005|ICD9:307.4|ICD10:G47|MESH:D012893		sleep disorder|disorders of the sleep-wake schedule|short sleep phenotypes|sleep-related neurogenic Tachypneas|sleep wake disorder|wake disorder, sleep|phenotype, short sleep|Subwakefullness syndrome|sleeper syndromes, long|syndromes, long sleeper|disturbed nyctohemeral rhythm|syndrome, long sleeper|syndrome, Subwakefullness|syndromes, Subwakefullness|disorders, sleep wake|sleep phenotypes, short|phenotypes, short sleep|disorder of sleep-wake cycle|disorder, sleep|non-organic sleep disorder|sleeper syndromes, short|short sleeper syndromes|long sleeper syndromes|long sleeper syndrome|disorder, sleep wake|neurogenic tachypnea, sleep-related|short sleeper syndrome|disorders, sleep|Tachypneas, sleep-related neurogenic|tachypnea, sleep-related neurogenic|neurogenic Tachypneas, sleep-related|sleep related neurogenic tachypnea|sleeper syndrome, long|wake disorders, sleep|Subwakefullness syndromes|sleep-related neurogenic tachypnea|syndrome, short sleeper|short sleep phenotype|sleeper syndrome, short|circadian dysregulation|sleep disorders|syndromes, short sleeper|disorder of sleep-wake schedule	http://purl.obolibrary.org/obo/MONDO_0003406	Abnormal sleep-wake schedule or pattern associated with the circadian rhythm which affect the length, timing, and/or rigidity of the sleep-wake cycle relative to the day-night cycle.	MESH:D012893|SNOMEDCT:39898005|DOID:535
UBERON:0000039	follicular antrum	biolink:AnatomicalEntity	mondo			antrum follicularum|ovarian follicle antrum|antral cavity|antrum folliculare	http://purl.obolibrary.org/obo/UBERON_0000039	Region of ovarian follicle filled with follicular fluid.	
MONDO:0003400	childhood endodermal sinus tumor	biolink:Disease	mondo	DOID:5342|UMLS:C1333016|NCIT:C27364		childhood yolk Sac tumor|childhood endodermal sinus tumor|childhood endodermal sinus neoplasm|pediatric yolk Sac neoplasm|pediatric yolk Sac tumor|pediatric endodermal sinus neoplasm|childhood yolk Sac neoplasm	http://purl.obolibrary.org/obo/MONDO_0003400	A yolk sac tumor that occurs during childhood.	NCIT:C27364|UMLS:C1333016|DOID:5342
MONDO:0003401	central nervous system endodermal sinus tumor	biolink:Disease	mondo	DOID:5343|NCIT:C6209		central nervous system endodermal sinus tumor|pediatric central nervous system endodermal sinus tumor|pediatric central nervous system yolk Sac neoplasm|central nervous system yolk sac tumor|central nervous system yolk Sac tumor|childhood central nervous system endodermal sinus neoplasm|childhood central nervous system endodermal sinus tumor|pediatric central nervous system endodermal sinus neoplasm|childhood central nervous system yolk Sac neoplasm|yolk Sac tumor of the CNS|pediatric central nervous system yolk Sac tumor|childhood central nervous system yolk Sac tumor	http://purl.obolibrary.org/obo/MONDO_0003401	A yolk sac tumor that arises from the central nervous system and occurs during childhood.	NCIT:C6209|DOID:5343
MONDO:0003402	testicular yolk sac tumor	biolink:Disease	mondo	DOID:5344|NCIT:C8000|GARD:0000348|EFO:1000574|UMLS:C0279708|ONCOTREE:TYST	gard_rare	yolk Sac neoplasm of the testis|testicular yolk Sac neoplasm|Orchidoblastoma|yolk Sac tumor of testis|yolk Sac tumor of the testis|testicular endodermal sinus tumor|endodermal-sinus tumor|endodermal sinus neoplasm of testis|testicular endodermal sinus neoplasm|endodermal sinus neoplasm of the testis|endodermal sinus tumor of testis|testis yolk sac tumor|endodermal sinus tumor of the testis|testicular yolk sac tumor|yolk sac tumor|yolk Sac neoplasm of testis	http://purl.obolibrary.org/obo/MONDO_0003402	A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation.	DOID:5344|UMLS:C0279708|NCIT:C8000
UBERON:0014687	temporal sulcus	biolink:AnatomicalEntity	mondo			temporal lobe sulci|temporal lobe sulcus	http://purl.obolibrary.org/obo/UBERON_0014687	Any of three grooves in the temporal lobe including the inferior, middle, and superior temporal sulci.	
UBERON:0014686	angular vein	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0014686	The angular vein formed by the junction of the frontal vein and supraorbital vein, runs obliquely downward, on the side of the root of the nose, to the level of the lower margin of the orbit, where it becomes the anterior facial vein. It receives the external nasal veins of the ala nasi, and communicates with the superior ophthalmic vein through the nasofrontal vein, thus establishing an important anastomosis between the anterior facial vein and the cavernous sinus.	
NCBITaxon:1809	Mycobacterium ulcerans	organism taxon	mondo	PMID:12089250|GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_1809		
UBERON:0000047	simple eye	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0000047	An eye with one concave chamber. Note that 'simple' does not imply a reduced level of complexity or acuity.	
HGNC:9483	PRSS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9483		
UBERON:0000042	serous membrane	biolink:AnatomicalEntity	mondo			wall of serous sac|tunica serosa|serosa	http://purl.obolibrary.org/obo/UBERON_0000042	multi-tissue structure that is comprised of a secretory epithelial layer (mesothelium) and a connective tissue layer.	
UBERON:0000043	tendon	biolink:AnatomicalEntity	mondo			sinew|tendo	http://purl.obolibrary.org/obo/UBERON_0000043	Dense regular connective tissue that connects muscle to bone[VSAO].	
UBERON:0000045	ganglion	biolink:AnatomicalEntity	mondo			ganglia|neural ganglion	http://purl.obolibrary.org/obo/UBERON_0000045	A biological tissue mass, most commonly a mass of nerve cell bodies.	
MONDO:0003414	skin pilomatrix carcinoma	biolink:Disease	mondo	DOID:5376|ICDO:8110/3|NCIT:C4114|Orphanet:499182|ICD10:C44.4|ICD10:C44.3|UMLS:C0585475|SCTID:307610008	ordo_disease	Pilomatrical carcinoma|pilomatrix carcinoma of the skin|pilomatrix skin carcinoma|pilomatrix carcinoma|calcified epithelial carcinoma of Malherbe|pilomatrix carcinoma of skin|invasive pilomatrixoma|pilomatricoma, malignant|malignant pilomatricoma|matrical carcinoma|Trichomatrical carcinoma|calcifying epitheliocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003414	A very rare, locally aggressive, malignant neoplasm of the hair follicle. The majority of the cases arise de novo, however malignant transformation from a pre-existing pilomatricoma has been reported. It usually presents as a solitary nodule in the head and neck, upper extremities, or buttocks. Morphologically, it is characterized by the presence of aggregates of basaloid cells infiltrating the dermis. Masses of ghost cells are present in the cellular aggregates. Complete surgical excision is the treatment of choice. If it is not completely removed, it usually recurs, but it rarely metastasizes to distant anatomic sites.	ORPHA:499182|NCIT:C4114|SNOMEDCT:307610008|UMLS:C0585475|DOID:5376
GO:0046110	xanthine metabolic process	biolink:OntologyClass	mondo			xanthine metabolism	http://purl.obolibrary.org/obo/GO_0046110	The chemical reactions and pathways involving xanthine, 2,6-dihydroxypurine, a purine formed in the metabolic breakdown of guanine but not present in nucleic acids.	
MONDO:0003415	obsolete hemoglobin d disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003415		
MONDO:0003416	obsolete hemoglobin E disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003416		
MONDO:0003417	internuclear ophthalmoplegia	biolink:Disease	mondo	UMLS:C0152134|ICD10:H51.2|ICD9:378.86|SCTID:49823009|DOID:538|COHD:376698			http://purl.obolibrary.org/obo/MONDO_0003417		UMLS:C0152134|DOID:538|SNOMEDCT:49823009
UBERON:0014671	distal interphalangeal joint of manural digit 5	biolink:AnatomicalEntity	mondo			distal interphalangeal joint of manural digit V|distal interphalangeal joint of little finger	http://purl.obolibrary.org/obo/UBERON_0014671		
MONDO:0003410	Wolffian duct adenocarcinoma	biolink:Disease	mondo	NCIT:C40254|DOID:5368|UMLS:C1516419		mesonephric duct adenocarcinoma|Wolffian duct adenocarcinoma|cervical mesonephric adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003410	A cervical adenocarcinoma that arises from mesonephric remnants. It is usually characterized by the presence of tubular glands lined by cuboidal epithelial cells.	UMLS:C1516419|NCIT:C40254|DOID:5368
MONDO:0003411	breast hemangiopericytoma	biolink:Disease	mondo	DOID:5370|UMLS:C1511313|NCIT:C40396		breast hemangiopericytoma|breast spindle cell tumor	http://purl.obolibrary.org/obo/MONDO_0003411	A hemangiopericytoma arising from the breast.	NCIT:C40396|DOID:5370|UMLS:C1511313
UBERON:0000029	lymph node	biolink:AnatomicalEntity	mondo			lymph gland|nodus lymphaticus	http://purl.obolibrary.org/obo/UBERON_0000029	Any of the rounded masses of lymphoid tissue that are surrounded by a capsule of connective tissue, are distributed along the lymphatic vessels, and contain numerous lymphocytes which filter the flow of lymph.	
MONDO:0003412	retroperitoneal hemangiopericytoma	biolink:Disease	mondo	UMLS:C1335777|DOID:5373|NCIT:C5386		retroperitoneal space hemangiopericytoma	http://purl.obolibrary.org/obo/MONDO_0003412	A benign or malignant hemangiopericytoma arising from the retroperitoneum.	NCIT:C5386|UMLS:C1335777|DOID:5373
HGNC:9490	TMPRSS15	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9490		
CHEBI:23423	pseudohalogen oxoacid	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_23423		
MONDO:0003413	hair follicle neoplasm	biolink:Disease	mondo	DOID:5375|NCIT:C7367|UMLS:C0859920		hair follicle neoplasm|hair matrix neoplasm|neoplasm of the hair follicle|hair follicle neoplasm (disease)|hair matrix tumor|tumor of hair follicle|neoplasm of hair follicle|hair matrix tumour|hair follicle tumor	http://purl.obolibrary.org/obo/MONDO_0003413	A benign or malignant neoplasm arising from the hair follicle.	UMLS:C0859920|DOID:5375|NCIT:C7367
CHEBI:35406	oxoanion	biolink:ChemicalSubstance	mondo			oxoacid anions|oxoanions|oxoanion	http://purl.obolibrary.org/obo/CHEBI_35406	An oxoanion is an anion derived from an oxoacid by loss of hydron(s) bound to oxygen.	
NCBITaxon:1817	Nocardia	organism taxon	mondo	PMID:7537058|GC_ID:11|PMID:7547284		Micropolyspora	http://purl.obolibrary.org/obo/NCBITaxon_1817		
GO:0048770	pigment granule	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0048770	A small, subcellular membrane-bounded vesicle containing pigment and/or pigment precursor molecules. Pigment granule biogenesis is poorly understood, as pigment granules are derived from multiple sources including the endoplasmic reticulum, coated vesicles, lysosomes, and endosomes.	
GO:0048771	tissue remodeling	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0048771	The reorganization or renovation of existing tissues. This process can either change the characteristics of a tissue such as in blood vessel remodeling, or result in the dynamic equilibrium of a tissue such as in bone remodeling.	
UBERON:0014675	distal interphalangeal joint of pedal digit 5	biolink:AnatomicalEntity	mondo			distal interphalangeal joint of little toe|distal interphalangeal joint of fifth toe|distal interphalangeal joint of pedal digit V|distal interphalangeal joint of fifth digit of foot	http://purl.obolibrary.org/obo/UBERON_0014675		
UBERON:0000030	lamina propria	biolink:AnatomicalEntity	mondo			lamina propria mucosa|lamina propria mucosae|tunica propria	http://purl.obolibrary.org/obo/UBERON_0000030	A thin layer of loose connective tissue which lies beneath the epithelium and together with the epithelium constitutes the mucosa[WP]. The lamina propria contains capillaries and a central lacteal (lymph vessel) in the small intestine, as well as lymphoid tissue. Lamina propria also contains glands with the ducts opening on to the mucosal epithelium, that secrete mucus and serous secretions.	
UBERON:0000038	follicular fluid	biolink:AnatomicalEntity	mondo			ovary follicle fluid|liquor folliculi|ovarian follicular fluid|liquor follicularis|ovary follicular fluid|liquor folliculi|antral fluid, ovarian follicle	http://purl.obolibrary.org/obo/UBERON_0000038	The fluid surrounding the ovum and granulosa cells in the ovarian follicle.	
UBERON:0000031	lamina propria of trachea	biolink:AnatomicalEntity	mondo			trachea lamina propria|lamina propria mucosa of windpipe|windpipe lamina propria|lamina propria mucosa of trachea|tracheal lamina propria|lamina propria mucosae of trachea|windpipe lamina propria mucosa|lamina propria mucosae of windpipe|trachea lamina propria mucosa|trachea lamina propria mucosae|lamina propria of windpipe|windpipe lamina propria mucosae	http://purl.obolibrary.org/obo/UBERON_0000031	A lamina propria that is part of a respiratory airway.	
MONDO:0003407	obsolete ovarian yolk sac tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003407		
MONDO:0003408	ovarian primitive germ cell tumor	biolink:Disease	mondo	NCIT:C39986|DOID:5351|UMLS:C1518727		ovarian primitive germ cell tumor	http://purl.obolibrary.org/obo/MONDO_0003408	A malignant tumor that arises from the ovary and is characterized by the presence of malignant germ cell components but lacks a teratoma component.	UMLS:C1518727|NCIT:C39986|DOID:5351
SO:0001411	biological_region	biolink:SequenceFeature	mondo			INSDC_note:biological_region|INSDC_misc_feature|biological region	http://purl.obolibrary.org/obo/SO_0001411	A region defined by its disposition to be involved in a biological process.	
MONDO:0003409	colonic disease	biolink:Disease	mondo	DOID:5353|UMLS:C0009373|MESH:D003108|SCTID:128524007		disorder of colon|colon disease|colon disorder|disease or disorder of colon|disease of colon|colon disease or disorder|disorder of colon	http://purl.obolibrary.org/obo/MONDO_0003409	Pathological processes in the colon region of the large intestine (intestine, large).	SNOMEDCT:128524007|MESH:D003108|UMLS:C0009373|DOID:5353
UBERON:0000033	head	biolink:AnatomicalEntity	mondo			head (volume)|adult head|cephalic area	http://purl.obolibrary.org/obo/UBERON_0000033	The head is the anterior-most division of the body [GO].	
HGNC:9498	PSAP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9498		
MONDO:0003469	epithelioid cell synovial sarcoma	biolink:Disease	mondo	NCIT:C4278|UMLS:C0334506|ICDO:9042/3|DOID:5494		epithelial sarcoma of synovium|epithelial sarcoma of the synovium|epithelioid cell sarcoma of synovium|epithelioid synovial sarcoma|epithelioid cell sarcoma of the synovium|synovial sarcoma, epithelioid cell (morphologic abnormality)|synovial sarcoma, epithelioid cell|epithelial synovial sarcoma	http://purl.obolibrary.org/obo/MONDO_0003469	A synovial sarcoma characterized by the presence of an epithelial cell component only. The epithelial cells are arranged in glandular or papillary structures.	DOID:5494|NCIT:C4278|UMLS:C0334506
UBERON:0012082	bronchial lumen	biolink:AnatomicalEntity	mondo			lumen of bronchus|bronchial lumen	http://purl.obolibrary.org/obo/UBERON_0012082	An anatomical cavity that is part of a bronchus.	
UBERON:0012081	patella pre-cartilage condensation	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0012081	A pre-cartilage condensation that has the potential to develop into a patella.	
UBERON:0012080	patella cartilage element	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0012080	A cartilaginous condensation that has the potential to develop into a patella.	
MONDO:0003465	fibrous synovial sarcoma	biolink:Disease	mondo	NCIT:C6533|UMLS:C1333616|DOID:5484		fibrous sarcoma of the synovium|fibrous sarcoma of synovium	http://purl.obolibrary.org/obo/MONDO_0003465		UMLS:C1333616|DOID:5484|NCIT:C6533
MONDO:0003466	spindle cell synovial sarcoma	biolink:Disease	mondo	NCIT:C4277|DOID:5487|ICDO:9041/3|UMLS:C0334505		synovial sarcoma with spindle cell components|synovial sarcoma, monophasic fibrous	http://purl.obolibrary.org/obo/MONDO_0003466	A synovial sarcoma characterized by the presence of a spindle cell component only.	DOID:5487|NCIT:C4277|UMLS:C0334505
UBERON:0012085	lumen of tertiary bronchus	biolink:AnatomicalEntity	mondo			segmental bronchial lumen|lumen of segmental bronchus	http://purl.obolibrary.org/obo/UBERON_0012085	An anatomical cavity that is part of a segmental bronchus.	
UBERON:0012084	lumen of secondary bronchus	biolink:AnatomicalEntity	mondo			lobar bronchial lumen|lumen of lobar bronchus|secondary bronchial lumen	http://purl.obolibrary.org/obo/UBERON_0012084	An anatomical cavity that is part of a lobar bronchus.	
MONDO:0003467	mediastinum synovial sarcoma	biolink:Disease	mondo	UMLS:C1334681|DOID:5488|NCIT:C6618		synovial sarcoma of the mediastinum|mediastinum synovial sarcoma (disease)|synovial sarcoma of mediastinum|mediastinal synovial sarcoma	http://purl.obolibrary.org/obo/MONDO_0003467	A synovial sarcoma arising from the mediastinum.	DOID:5488|NCIT:C6618|UMLS:C1334681
UBERON:0012083	lumen of primary bronchus	biolink:AnatomicalEntity	mondo			principal bronchial lumen|main bronchial lumen|lumen of main bronchus	http://purl.obolibrary.org/obo/UBERON_0012083	An anatomical cavity that is part of a main bronchus.	
MONDO:0003468	biphasic synovial sarcoma	biolink:Disease	mondo	NCIT:C4279|UMLS:C0334507|ICDO:9043/3|DOID:5492		synovial sarcoma, biphasic (morphologic abnormality)|biphasic sarcoma of the synovium|synovial sarcoma, biphasic|biphasic sarcoma of synovium	http://purl.obolibrary.org/obo/MONDO_0003468	A synovial sarcoma characterized by the presence of both an epithelial and a spindle cell component.	DOID:5492|NCIT:C4279|UMLS:C0334507
MONDO:0003461	fallopian tube serous adenofibroma	biolink:Disease	mondo	DOID:5478|NCIT:C40113|UMLS:C1517109		fallopian tube adenofibroma|fallopian tube serous adenofibroma|serous adenofibroma of fallopian tube	http://purl.obolibrary.org/obo/MONDO_0003461	A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder. The tumors are round and solitary and contain connective tissue and papillary or tubular structures lined by serous-type epithelium.	UMLS:C1517109|NCIT:C40113|DOID:5478
ENVO:02500001	desertification	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_02500001	A type of land degradation in which terrestrial ecosystem becomes increasingly dry, typically losing its bodies of water as well as vegetation and wildlife.	
MONDO:0003462	papillary adenofibroma	biolink:Disease	mondo	DOID:5479|UMLS:C1377850|NCIT:C8986		papillary adenofibroma	http://purl.obolibrary.org/obo/MONDO_0003462	A biphasic polypoid neoplasm characterized by the presence of papillary projections that are lined by epithelial cells and fibrotic stroma.	DOID:5479|NCIT:C8986|UMLS:C1377850
ENVO:02500000	environmental system process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_02500000	A process in which includes the components of an environmental system as participants.	
MONDO:0003463	ovarian endometrioid adenofibroma	biolink:Disease	mondo	UMLS:C2212024|NCIT:C27287|ICDO:8381/0|ICDO:8380/0|DOID:5480		ovarian endometrioid adenofibroma	http://purl.obolibrary.org/obo/MONDO_0003463	A benign neoplasm of the ovary characterized by the presence of glandular structures with endometrial-type well-differentiated cells in a fibrotic stroma.	DOID:5480|NCIT:C27287|UMLS:C2212024
MONDO:0003464	cystadenofibroma	biolink:Disease	mondo	NCIT:C8985|MESH:D062625|DOID:5482		cystadenofibroma, NOS|cystadenofibroma	http://purl.obolibrary.org/obo/MONDO_0003464	A benign or borderline neoplasm that arises from the ovaries and the fallopian tubes. It is characterized by the presence of cystic glandular structures and fibrous tissue.	DOID:5482|NCIT:C8985|MESH:D062625
GO:1902850	microtubule cytoskeleton organization involved in mitosis	biolink:OntologyClass	mondo			microtubule cytoskeleton organisation involved in mitosis|microtubule dynamics involved in mitosis|microtubule cytoskeleton organization and biogenesis involved in mitosis	http://purl.obolibrary.org/obo/GO_1902850	Any microtubule cytoskeleton organization that is involved in mitosis.	
ENVO:02500005	land degradation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_02500005	A process which diminishes the functioning of an ecosystem located on land.	
ENVO:02500003	atmospheric process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_02500003	A process which occurs within an atmosphere.	
MONDO:0003460	clear cell adenofibroma	biolink:Disease	mondo	DOID:5477|ICDO:8313/0|NCIT:C8987		clear cell adenofibroma|clear cell adenofibroma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003460	A benign neoplasm characterized by the presence of glandular structures which contain clear cells and a fibrotic stroma.	NCIT:C8987|DOID:5477
MONDO:0015458	intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	biolink:Disease	mondo	GARD:0012487|ICD10:Q87.8|Orphanet:1495|UMLS:CN199578|SCTID:722455002	ordo_malformation_syndrome	Da Silva syndrome|intellectual disability - hypoplastic corpus callosum - preauricular tag	http://purl.obolibrary.org/obo/MONDO_0015458	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterised by a hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive.	SNOMEDCT:722455002|ORPHA:1495|UMLS:CN199578
MONDO:0015457	corpus callosum agenesis-double urinary collecting system syndrome	biolink:Disease	mondo	GARD:0001536|MESH:C535427|GARD:0000852|UMLS:C2930897|Orphanet:1492	ordo_malformation_syndrome|gard_rare	agenesis of corpus callosum with double urinary collecting system, trigonocephaly and minor anomalies|corpus callosum agenesis - double urinary collecting system|Ben Ari Shuper Mimouni syndrome|corpus callosum agenesis double urinary collecting|Ben Ari-Shuper-Mimouni syndrome|corpus callosum agenesis-double urinary collecting system syndrome	http://purl.obolibrary.org/obo/MONDO_0015457		ORPHA:1492|MESH:C535427|UMLS:C2930897
MONDO:0015456	obsolete whooping cough	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015456		
MONDO:0015455	gonococcal conjunctivitis	biolink:Disease	mondo	GARD:0002546|ICD10:H13.1*|SCTID:231858009|Orphanet:1482|NCIT:C116816|ICD10:A54.3+|ICD10:A54.31	gard_rare|ordo_disease	gonococcal ophthalmia neonatorum|conjunctivitis gonococcal|gonococcal ophthalmia neonatorum	http://purl.obolibrary.org/obo/MONDO_0015455	Inflammation of the conjunctiva in a newborn due to Neisseria gonorrhoeae which was acquired during labor and delivery.	ORPHA:1482|UMLS:C0339166|NCIT:C116816|SNOMEDCT:231858009
MONDO:0015459	nasopharyngeal carcinoma	biolink:Disease	mondo	ICD10:C11.2|MESH:C538339|ICD9:147|ICD10:C11.1|ICD10:C11.0|NCIT:C3871|DOID:9261|UMLS:C3665551|MESH:D00007727|UMLS:CN199582|UMLS:C2931822|ICD10:C11|ICD9:147.9|MedDRA:10028793|UMLS:C0153396|Orphanet:150|ICD9:147.2|UMLS:C0153395|ONCOTREE:NPC|UMLS:C0153394|UMLS:C0153393|SCTID:363398003|ICD9:147.3|ICD10:C11.9|ICD9:147.1|UMLS:C3647449|ICD10:C11.3|ICD9:147.0	ordo_disease	nasopharyngeal cancer|malignant tumor of posterior wall of nasopharynx|malignant neoplasm of superior wall of nasopharynx|NPC|carcinoma of nasopharynx|malignant neoplasm of other specified sites of nasopharynx|malignant neoplasm of roof of nasopharynx|malignant neoplasm of posterior wall of nasopharynx|nasopharyngeal carcinoma|carcinoma of the nasopharynx|nasopharynx carcinoma|malignant neoplasm of nasopharynx (disorder) [ambiguous]|cancer of the nasopharynx|malignant neoplasm of nasopharyngeal wall NOS|malignant neoplasm of nasopharyngeal wall|nasopharyngeal throat cancer|cancer of nasopharynx|nasopharynx cancer|malignant tumor of lateral wall of nasopharynx|malignant neoplasm of anterior wall of nasopharynx|malignant tumor of anterior wall of nasopharynx|primary malignant neoplasm of anterior wall of nasopharynx|malignant neoplasm of lateral wall of nasopharynx|malignant neoplasm of nasopharynx|malignant nasopharyngeal tumor|squamous cell carcinoma of the nasopharynx	http://purl.obolibrary.org/obo/MONDO_0015459	A carcinoma arising from the nasopharyngeal epithelium. It includes the following types: keratinizing squamous cell carcinoma, nonkeratinizing carcinoma (differentiated and undifferentiated), basaloid squamous cell carcinoma, and papillary adenocarcinoma.	MESH:C538339|NCIT:C3871|UMLS:C3665551|UMLS:C3647449|ORPHA:150|SNOMEDCT:363398003|MESH:D00007727|UMLS:CN199582|DOID:9261|MEDDRA:10028793|UMLS:C0153393|UMLS:C0153394|UMLS:C0153395|UMLS:C0153396|UMLS:C2931822
MONDO:0015450	triatrial heart	biolink:Disease	mondo	Orphanet:1463|ICD9:746.82|SCTID:55510008|ICD10:Q24.2|NCIT:C84651|GARD:0006194|COHD:441108	ordo_group_of_disorders	Cor triatriatum	http://purl.obolibrary.org/obo/MONDO_0015450	A rare congenital abnormality of the heart characterized by the presence of three atria. The right or left atrium is divided into two parts by fibromuscular tissue or a membrane. It may be associated with other heart congenital abnormalities.	NCIT:C84651|ORPHA:1463|SNOMEDCT:55510008
MONDO:0015454	multiple carboxylase deficiency	biolink:Disease	mondo	DOID:857|MESH:D009100|ICD10:D81.819|Orphanet:148|UMLS:C0026755|MedDRA:10028176|GARD:0003824|ICD10:D81.81|ICD10:E53.8	ordo_group_of_disorders	MCD|multiple carboxylase deficiency	http://purl.obolibrary.org/obo/MONDO_0015454	Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay.	ORPHA:148|UMLS:C0026755|DOID:857|MEDDRA:10028176|MESH:D009100
GO:0097711	ciliary basal body-plasma membrane docking	biolink:OntologyClass	mondo			anchoring of the basal body to the plasma membrane|ciliary basal body docking	http://purl.obolibrary.org/obo/GO_0097711	The docking of a cytosolic centriole/basal body to the plasma membrane via the ciliary transition fibers. In some species this may happen via an intermediate step, by first docking to the ciliary vesicle via the ciliary transition fibers. The basal body-ciliary vesicle then relocates to the plasma membrane, followed by the ciliary vesicle fusing with the plasma membrane, effectively attaching the basal body to the plasma membrane.	
MONDO:0015453	Cogan syndrome	biolink:Disease	mondo	UMLS:CN199560|GARD:0001421|SCTID:405810005|ICD10:H16.32|Orphanet:1467|MedDRA:10056667|DOID:0060216|ICD10:H16.3|MESH:D055952	gard_rare|ordo_disease	Cogan's syndrome|diffuse interstitual keratitis|Cogan syndrome	http://purl.obolibrary.org/obo/MONDO_0015453	Cogan syndrome (CS) is a rare autoimmune disorder of unknown origin characterized by inflammatory ocular disease (mainly interstitial keratitis) and vestibulo-auditory manifestations (mainly acute onset hearing loss, tinnitus and vertigo), in the setting of a negative work-up for syphilis, with a variable risk of developing into a systemic disease. Systemic manifestations may occur in more than 70% of cases.	ORPHA:1467|MESH:D055952|UMLS:CN199560|DOID:0060216|MEDDRA:10056667|SNOMEDCT:405810005
GO:0097712	vesicle targeting, trans-Golgi to periciliary membrane compartment	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0097712	The process in which vesicles formed at the trans-Golgi network are directed to the plasma membrane surrounding the base of the cilium, including the ciliary pocket, mediated by molecules at the vesicle membrane and target membrane surfaces.	
MONDO:0015452	Coffin-Siris syndrome	biolink:Disease	mondo	MESH:C536436|NCIT:C35321|Orphanet:1465|GARD:0006124|UMLS:C0265338|ICD9:759.89|DOID:1925|OMIMPS:135900|ICD10:Q87.1|SCTID:10007009	ordo_malformation_syndrome	fifth digit syndrome|dwarfism-onychodysplasia|short stature-onychodysplasia.|CSS|intellectual disability with absent fifth fingernail and terminal phalanx	http://purl.obolibrary.org/obo/MONDO_0015452	Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.	ORPHA:1465|UMLS:C0265338|MESH:C536436|SNOMEDCT:10007009|DOID:1925|NCIT:C35321
MONDO:0015451	univentricular heart	biolink:Disease	mondo	Orphanet:1464|ICD9:746.89|MedDRA:10045545|ICD10:Q20.4|SCTID:253283000	ordo_morphological_anomaly	Double inlet left ventricle	http://purl.obolibrary.org/obo/MONDO_0015451	Univentricular heart (UVH) is a severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities.	SNOMEDCT:253283000|MEDDRA:10045545|ORPHA:1464
UBERON:0012071	palate bone	biolink:AnatomicalEntity	mondo			palatal bone	http://purl.obolibrary.org/obo/UBERON_0012071	Any bone that is part of a palate.	
UBERON:0012070	palatal tooth	biolink:AnatomicalEntity	mondo			palatal teeth	http://purl.obolibrary.org/obo/UBERON_0012070	A tooth that is on the roof of the mouth.	
MONDO:0003476	clear cell ependymoma	biolink:Disease	mondo	ONCOTREE:CCE|NCIT:C4714|DOID:5507		clear cell ependymoma	http://purl.obolibrary.org/obo/MONDO_0003476	An ependymoma, often supratentorial in location, characterized by the presence of ependymal cells with a perinuclear halo.	DOID:5507|NCIT:C4714
UBERON:0012075	replacement bone	biolink:AnatomicalEntity	mondo			replacement bones	http://purl.obolibrary.org/obo/UBERON_0012075	Bone that forms as a replacement of another structural tissue.	
UBERON:0012074	bony part of hard palate	biolink:AnatomicalEntity	mondo			bony palate|palatum osseum|hard palate skeleton	http://purl.obolibrary.org/obo/UBERON_0012074	A subdivision of skeletal system that subdivision_of a hard palate.	
MONDO:0003477	brain stem ependymoma	biolink:Disease	mondo	NCIT:C5098|UMLS:C1332609|DOID:5508		ependymoma of the brainstem|brain stem ependymoma|ependymoma of brain stem|ependymoma of the brain stem|brainstem ependymoma|ependymoma of brainstem	http://purl.obolibrary.org/obo/MONDO_0003477	An ependymoma that arises from the brain stem.	DOID:5508|UMLS:C1332609|NCIT:C5098
MONDO:0003478	childhood ependymoma	biolink:Disease	mondo	MESH:C531673|NCIT:C8578|DOID:5509		ependymoma|ependymoma of childhood|pediatric ependymoma|childhood ependymoma|pediatric ependymoma	http://purl.obolibrary.org/obo/MONDO_0003478	An ependymoma that arises from the central nervous system and occurs during childhood.	DOID:5509|NCIT:C8578|MESH:C531673
MONDO:0003479	toxic pneumonitis	biolink:Disease	mondo	ICD9:506.9|UMLS:C3714582|SCTID:233733000|DOID:551		acute chemical pulmonary edema|acute chemical fume pulmonary edema	http://purl.obolibrary.org/obo/MONDO_0003479	A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects.	DOID:551|SNOMEDCT:233733000|UMLS:C3714582
UBERON:0012072	palatal part of dermatocranium	biolink:AnatomicalEntity	mondo			palatal series|dermatocranium, palatal series	http://purl.obolibrary.org/obo/UBERON_0012072		
MONDO:0003472	lice infestation	biolink:Disease	mondo	UMLS:C0277351|UMLS:C0153317|COHD:132253|ICD9:132.9|UMLS:C0030756|MESH:D010373|NCIT:C128401|ICD10:B85.2|DOID:5502		lice infestation, NOS|pediculosis and Phthirus infestation|pediculosis and Phthirus infections|pediculosis and Phthirus infection|pediculosis, unspecified|louse infestation (& [pediculosis and Phthirus] or [lice])|pediculosis|pediculosis + lice NOS|mixed pediculosis infestation|infections, Pediculus humanus|mixed pediculosis|pediculosis + lice|infestation by Pediculus|Pediculus humanus infection|louse infestation	http://purl.obolibrary.org/obo/MONDO_0003472	A contagious infestation of parasitic insects found on the head (Pediculus humanus capitis), body (Pediculus humanus corporis), or pubic area (Pthirus pubis) that typically cause itching and rash.	NCIT:C128401|UMLS:C0277351|MESH:D010373|UMLS:C0153317|DOID:5502|UMLS:C0030756
MONDO:0003473	spinal cord ependymoma	biolink:Disease	mondo	SCTID:254949006|NCIT:C3875|UMLS:C0238432|DOID:5503		ependymoma of the spinal cord|ependymoma of spinal cord|spinal cord ependymoma|ependymal neoplasm of the spinal cord	http://purl.obolibrary.org/obo/MONDO_0003473	An ependymoma that arises from the spinal cord.	SNOMEDCT:254949006|UMLS:C0238432|NCIT:C3875|DOID:5503
MONDO:0003474	tanycytic ependymoma	biolink:Disease	mondo	UMLS:C1370500|NCIT:C6903|DOID:5504		tanycytic ependymoma	http://purl.obolibrary.org/obo/MONDO_0003474	A variant of ependymoma, often found in the spinal cord, with tumor cells arranged in fascicles of variable width and cell density. Ependymal rosettes are generally absent, so this lesion must be distinguished from astrocytic neoplasms, but its EM characteristics are ependymal. (Adapted from WHO.)	UMLS:C1370500|NCIT:C6903|DOID:5504
MONDO:0003475	papillary ependymoma	biolink:Disease	mondo	ICDO:9393/3|NCIT:C4319|DOID:5505|UMLS:C0334578		papillary ependymoma	http://purl.obolibrary.org/obo/MONDO_0003475	A rare variant of ependymoma characterized by well formed papillae. Tumor cell processes abutting capillaries are usually GFAP-positive. Differential diagnoses include choroid plexus papilloma, papillary meningioma and metastatic papillary carcinoma. (Adapted from WHO)	DOID:5505|NCIT:C4319|UMLS:C0334578
GO:0046137	negative regulation of vitamin metabolic process	biolink:OntologyClass	mondo			downregulation of vitamin metabolic process|inhibition of vitamin metabolic process|down-regulation of vitamin metabolic process|negative regulation of vitamin metabolism|down regulation of vitamin metabolic process	http://purl.obolibrary.org/obo/GO_0046137	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body.	
GO:0046136	positive regulation of vitamin metabolic process	biolink:OntologyClass	mondo			positive regulation of vitamin metabolism|up-regulation of vitamin metabolic process|up regulation of vitamin metabolic process|activation of vitamin metabolic process|stimulation of vitamin metabolic process|upregulation of vitamin metabolic process	http://purl.obolibrary.org/obo/GO_0046136	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body.	
MONDO:0003470	cellular ependymoma	biolink:Disease	mondo	DOID:5500|NCIT:C4713|UMLS:C1384403			http://purl.obolibrary.org/obo/MONDO_0003470	An ependymoma which shows conspicuous cellularity without a significant increase in mitotic rate. (Adapted from WHO)	UMLS:C1384403|NCIT:C4713|DOID:5500
MONDO:0003471	Pediculus humanus capitis infestation	biolink:Disease	mondo	DOID:5501|ICD10:B85.0|SCTID:81000006|ICD9:132.0|UMLS:C0030757		infections, Pediculus humanus capitis|Pediculus capitis|Pediculus humanus capitis infection|Pediculus capitis [head louse]|pediculosis capitis|Pediculus capitis infestation|head louse infestation	http://purl.obolibrary.org/obo/MONDO_0003471	A infectious disease involving Pediculus humanus capitis.	SNOMEDCT:81000006|DOID:5501|UMLS:C0030757
MONDO:0015447	differentiated thyroid carcinoma	biolink:Disease	mondo	EFO:1002017|ICD10:C73|UMLS:C1337013|NCIT:C7153|Orphanet:146|ONCOTREE:WDTC|DOID:0080525	ordo_disease	papillary or follicular thyroid carcinoma|well differentiated thyroid gland carcinoma|thyroid gland differentiated carcinoma|thyroid gland well differentiated carcinoma|well-differentiated thyroid cancer|differentiated thyroid cancer|differentiated thyroid gland carcinoma|well differentiated thyroid carcinoma|differentiated thyroid gland cancer|well-differentiated thyroid carcinoma|differentiated thyroid carcinoma	http://purl.obolibrary.org/obo/MONDO_0015447	Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass.	ORPHA:146|DOID:0080525|NCIT:C7153|UMLS:C1337013
UBERON:0000093	sulcus	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0000093	A depression or fissure in the surface of an organ.	
UBERON:0000094	membrane organ	biolink:AnatomicalEntity	mondo			membrane|membrane of organ	http://purl.obolibrary.org/obo/UBERON_0000094	Nonparenchymatous organ that primarily consists of dense connective tissue organized into a sheet which interconnects two or more organs, separates two or more body spaces from one another, or surrounds an organ or body part. Examples: interosseous membrane of forearm, obturator membrane, tympanic membrane, fibrous pericardium, fascia lata, dura mater. [FMA]	
MONDO:0015446	atypical coarctation of aorta	biolink:Disease	mondo	Orphanet:1456|ICD10:Q25.1|UMLS:C3496579|SCTID:471268000|UMLS:C3805239	ordo_clinical_subtype	coarctation of the abdominal aorta|mid-aortic syndrome|Midaortic syndrome|mid-aortic dysplastic syndrome|middle aortic syndrome	http://purl.obolibrary.org/obo/MONDO_0015446	Middle aortic coarctation is a rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta with varying involvement of the visceral and renal arteries that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, lower-limb claudication and that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis).	UMLS:C3496579|ORPHA:1456|SNOMEDCT:471268000|UMLS:C3805239
MONDO:0015445	autosomal dominant coarctation of aorta	biolink:Disease	mondo	Orphanet:1455|ICD10:Q25.1	ordo_clinical_subtype	autosomal dominant aorta coarctation|aorta coarctation, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0015445	Autosomal dominant form of aorta coarctation.	ORPHA:1455|MESH:C531623|UMLS:C2930803
UBERON:0000095	cardiac neural crest	biolink:AnatomicalEntity	mondo			cardiac neural crest complex|complexus cristae neuralis cardiacus	http://purl.obolibrary.org/obo/UBERON_0000095	portion of neural crest that develops from the dorsal neural tube. It overlaps the vagal neural crest and migrates to populate the pharyngeal arches 3, 4 and 6 (producing structures in the head) and to the heart, forming connective tissue that separates the great vessels of the heart. [Wikipedia]	
MONDO:0015444	obsolete cleidocranial dysplasia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015444		
MONDO:0015449	criss-cross heart	biolink:Disease	mondo	MESH:D003420|ICD9:746.89|SCTID:253269002|Orphanet:1461|ICD10:Q24.8	ordo_morphological_anomaly	superoinferior ventricles|twisted atrioventricular connections|criss-cross atrioventricular relationships	http://purl.obolibrary.org/obo/MONDO_0015449	Criss cross heart (CCH) is a cardiac malformation where the inflow streams of the two ventricles cross due to twisting of the heart about its major axis. The clinical features depend on the particular cardiac defects associated, like simple or corrected transposition of the great arteries and ventricular septal defects.	MESH:D003420|SNOMEDCT:253269002|ORPHA:1461
UBERON:0000091	bilaminar disc	biolink:AnatomicalEntity	mondo			germinal disk|bilaminary embryonic disc|embryonic shield|germinal disc|bilaminar disk|embryonic disc|bilaminary germ disc	http://purl.obolibrary.org/obo/UBERON_0000091	A flattened, almost circular bilaminar plate of cells formed when the inner cell mass (aka embryoblast) forms two epithelial layers, each of a distinct lineage, separated by an extracellular basement membrane: the external (dorsal) layer is called the epiblast and the internal (ventral) layer is called the hypoblast (aka primitive endoderm); together, they compose the bilaminar embryonic disc.	
MONDO:0015448	mitochondrial complex III deficiency	biolink:Disease	mondo	ICD10:G71.3|DOID:0111139|Orphanet:1460	ordo_disease	isolated complex III deficiency|isolated mitochondrial respiratory chain complex III deficiency|isolated CoQ-cytochrome C reductase deficiency|isolated ubiquinone-cytochrome C reductase deficiency|isolated coenzyme Q-cytochrome C reductase deficiency	http://purl.obolibrary.org/obo/MONDO_0015448	Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).	ORPHA:1460|DOID:0111139
UBERON:0000092	post-embryonic stage	biolink:AnatomicalEntity	mondo			postembryonic stage|postembryonic|post-hatching stage	http://purl.obolibrary.org/obo/UBERON_0000092	stage succeeding embryo, including mature structure	
MONDO:0015443	chromosome 8-derived supernumerary ring/marker	biolink:Disease	mondo	GTR:AN0101480|NCIT:C121988|Orphanet:1450|GTR:AN0101479|SCTID:715983001|GARD:0001347|MESH:C537824|ICD10:Q93.2|UMLS:CN036129	ordo_malformation_syndrome	R8|supernumerary ring/marker 8|rose cluster 8|ring chromosome 8|Ring chromosome 8 syndrome|r(8) syndrome|chromosome 8 ring|Ring 8	http://purl.obolibrary.org/obo/MONDO_0015443	Chromosome 8-derived supernumerary ring/marker is a rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome.	SNOMEDCT:715983001|ORPHA:1450|NCIT:C121988|MESH:C537824|UMLS:CN036129|UMLS:C2931633
GO:0097722	sperm motility	biolink:OntologyClass	mondo			sperm movement	http://purl.obolibrary.org/obo/GO_0097722	Any process involved in the controlled movement of a sperm cell.	
MONDO:0015442	obsolete hereditary breast and ovarian cancer syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015442		
MONDO:0015441	ring chromosome 7	biolink:Disease	mondo	GARD:0001345|ICD10:Q93.2|NCIT:C121986|MESH:C537813|SCTID:765489006|Orphanet:1449	gard_rare|ordo_malformation_syndrome	rose cluster 7|Ring 7|R7|chromosome 7 ring|Ring chromosome 7 syndrome|Ring chromosome type 7	http://purl.obolibrary.org/obo/MONDO_0015441	Gene expression cluster 7 as determined by Recognition of Outliers by Sampling Ends (ROSE) in high-risk B-precursor acute lymphoblastic leukemia.	ORPHA:1449|UMLS:C0795818|NCIT:C121986|MESH:C537813|UMLS:C2931622|SNOMEDCT:765489006
MONDO:0015440	ring chromosome 6	biolink:Disease	mondo	GARD:0006095|MESH:C537763|ICD10:Q93.2|NCIT:C121985|Orphanet:1448|SCTID:765488003	gard_rare|ordo_malformation_syndrome	rose cluster 6|R6|Ring 6|chromosome 6 ring|Ring chromosome 6 syndrome|Ring chromosome type 6	http://purl.obolibrary.org/obo/MONDO_0015440	Gene expression cluster 6 as determined by Recognition of Outliers by Sampling Ends (ROSE) in high-risk B-precursor acute lymphoblastic leukemia.	UMLS:C0795814|ORPHA:1448|MESH:C537763|NCIT:C121985|UMLS:C2931604|SNOMEDCT:765488003
MONDO:0003447	clear cell hidradenoma	biolink:Disease	mondo	DOID:5443|UMLS:C1370701|NCIT:C7567		clear cell hidradenoma|clear cell hidradenoma (morphologic abnormality)|clear cell myoepithelioma	http://purl.obolibrary.org/obo/MONDO_0003447	An uncommon benign neoplasm of the sweat glands characterized by the presence of clear cells.	DOID:5443|NCIT:C7567|UMLS:C1370701
MONDO:0003448	benign spiradenoma	biolink:Disease	mondo	ICDO:8403/0|ONCOTREE:SPIR|NCIT:C4170|GARD:0008649|DOID:5444|SCTID:403938001|UMLS:C0334347		spiroma/spiradenoma|spiradenoma|eccrine spiradenoma of skin|benign eccrine spiradenoma|eccrine spiradenoma|eccrine spiradenoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003448	A benign epithelial neoplasm with eccrine or apocrine differentiation, arising from the sweat glands. It usually presents as a solitary, well circumscribed, firm nodule in the face and upper trunk. It is characterized by the presence of basaloid cells forming nodules in the dermis. Cases of carcinoma arising from long standing spiradenomas have been reported.	UMLS:C0334347|SNOMEDCT:403938001|DOID:5444|NCIT:C4170
MONDO:0003449	obsolete syringocystadenoma papilliferum	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003449		
MONDO:0003443	papillary urothelial neoplasm	biolink:Disease	mondo	NCIT:C27883|DOID:5433|UMLS:C1335329		papillary transitional cell neoplasm of the urinary tract|inverted papilloma of urinary tract|urothelium papillary epithelial neoplasm|papillary urothelial neoplasm|urinary tract papillary transitional cell neoplasm|urinary tract papillary transitional cell benign neoplasm|urinary tract inverted papilloma	http://purl.obolibrary.org/obo/MONDO_0003443	A neoplastic lesion of the urinary tract transitional cell epithelium characterized by papillary formations. -- 2003	DOID:5433|NCIT:C27883|UMLS:C1335329
MONDO:0003444	intrahepatic bile duct adenoma	biolink:Disease	mondo	DOID:5437|UMLS:C1331535|NCIT:C7126		intrahepatic bile duct adenoma|adenoma of the intrahepatic bile duct|adenoma of intrahepatic bile duct|adenoma, HEPATOCHOLANGIOCELLULAR, benign	http://purl.obolibrary.org/obo/MONDO_0003444	A rare adenoma that arises from the intrahepatic biliary tree.	DOID:5437|UMLS:C1331535|NCIT:C7126
MONDO:0003445	extrahepatic bile duct adenoma	biolink:Disease	mondo	DOID:5438|UMLS:C1331534|NCIT:C5857		adenoma of the extrahepatic bile duct|extrahepatic bile duct adenoma|adenoma of extrahepatic bile duct	http://purl.obolibrary.org/obo/MONDO_0003445	An adenoma that arises from the extrahepatic bile ducts. It is classified as papillary, tubular, or tubulopapillary.	DOID:5438|UMLS:C1331534|NCIT:C5857
MONDO:0027416	obsolete retinal cone dystrophy 2	biolink:Disease	mondo	GARD:0010117	gard_rare	Progressive cone degeneration|Cone dystrophy progressive|RCD2	http://purl.obolibrary.org/obo/MONDO_0027416		
MONDO:0003446	papillary hidradenoma	biolink:Disease	mondo	DOID:5439|UMLS:C0334348|SCTID:307597000|NCIT:C4171|ICDO:8405/0		hidradenoma papilliferum	http://purl.obolibrary.org/obo/MONDO_0003446	A benign neoplasm arising from the sweat glands. It presents as a slow growing cystic nodular lesion most often in the skin of the vulva and the perianal region. It is characterized by the presence of cystic and large papillary structures. The papillary structures contain connective tissue and are covered by two layers of epithelium. Complete excision is curative.	UMLS:C0334348|SNOMEDCT:307597000|DOID:5439|NCIT:C4171
MONDO:0003440	obsolete bladder flat intraepithelial lesion	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003440		
MONDO:0003441	dystonic disorder	biolink:Disease	mondo	ICD10:G24.9|COHD:375800|SCTID:15802004|ICD10:G24|NCIT:C34563|OMIMPS:128100|DOID:543|MESH:D020821|HP:0001332|ICD9:333.90		dystonic disorder|dystonia disorder|dystonia disorders|dystonic disease|dystonia	http://purl.obolibrary.org/obo/MONDO_0003441	A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures.	MESH:D020821|DOID:543|NCIT:C34563|SNOMEDCT:15802004
MONDO:0003442	bladder papillary urothelial neoplasm	biolink:Disease	mondo	DOID:5432|NCIT:C39857|UMLS:C1511197		urinary bladder papillary transitional cell neoplasm|urinary bladder papillary urothelial neoplasm|bladder papillary transitional cell neoplasm|bladder papillary urothelial neoplasm|urinary bladder urothelium papillary epithelial neoplasm	http://purl.obolibrary.org/obo/MONDO_0003442	A papillary epithelial neoplasm that involves the urinary bladder urothelium.	DOID:5432|UMLS:C1511197|NCIT:C39857
ENVO:02500027	anthropogenic environmental process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_02500027	An environmental process which is driven by the action of humans.	
ENVO:02500026	anthropogenic modulatory intervention process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_02500026	A process during which humans apply technology to alter the magnitude, duration, rate, or impact of an environmental process.	
GO:0046146	tetrahydrobiopterin metabolic process	biolink:OntologyClass	mondo			5,6,7,8-tetrahydrobiopterin metabolic process|tetrahydrobiopterin metabolism	http://purl.obolibrary.org/obo/GO_0046146	The chemical reactions and pathways involving tetrahydrobiopterin, the reduced form of biopterin (2-amino-4-hydroxy-6-(1,2-dihydroxypropyl)-pteridine). It functions as a hydroxylation coenzyme, e.g. in the conversion of phenylalanine to tyrosine.	
UBERON:0012069	epithelium-associated lymphoid tissue	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0012069		
MONDO:0015436	ring chromosome 20	biolink:Disease	mondo	SCTID:23686004|NCIT:C169001|ICD10:Q93.2|Orphanet:1444|GARD:0001334|ICD9:758.89|MESH:C580424	gard_rare|ordo_malformation_syndrome	Ring 20|Ring chromosome 20 syndrome|chromosome 20 ring|Ring chromosome type 20|R20	http://purl.obolibrary.org/obo/MONDO_0015436	Ring chromosome 20 syndrome is marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioural problems. In rare cases, brain, kidney or heart malformations may be present.	UMLS:C2930886|SNOMEDCT:23686004|ORPHA:1444|UMLS:C0265482|NCIT:C169001|MESH:C535369|MESH:C580424
MONDO:0015435	ring chromosome 19	biolink:Disease	mondo	SCTID:765484001|ICD10:Q93.2|UMLS:CN036553|Orphanet:1443|GARD:0001333|MESH:C538310	gard_rare|ordo_malformation_syndrome	R19|Ring 19|Ring chromosome 19 syndrome|chromosome 19 ring|Ring chromosome type 19	http://purl.obolibrary.org/obo/MONDO_0015435	Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported.	MESH:C538310|ORPHA:1443|SNOMEDCT:765484001|UMLS:CN036553|UMLS:C2931812
UBERON:0000083	mesonephric tubule	biolink:AnatomicalEntity	mondo			tubuli mesonephrici|renal tubules	http://purl.obolibrary.org/obo/UBERON_0000083	A mesonephric tubule is an epithelial tube that is part of the mesonephros[GO]. Genital ridge that is next to the mesonephros[WP].	
UBERON:0000084	ureteric bud	biolink:AnatomicalEntity	mondo			ureteric ampulla|gemma ureterica|diverticulum metanephricum|diverticulum|ureteric diverticulum|metanephric bud|metanephric diverticulum	http://purl.obolibrary.org/obo/UBERON_0000084	An epithelial swelling on the Wolffian duct that elongates to invade the adjacent metanephric mesenchyme[MP]	
MONDO:0015434	ring chromosome 18	biolink:Disease	mondo	EFO:0001226|ICD10:Q93.2|MESH:C538304|Orphanet:1442|SCTID:88154004|UMLS:C0265475|GARD:0006077	ordo_malformation_syndrome|gard_rare	chromosome 18 ring|Ring chromosome 18 syndrome|R18|Ring 18|Ring chromosome type 18	http://purl.obolibrary.org/obo/MONDO_0015434		MESH:C538304|ORPHA:1442|UMLS:C0265475|SNOMEDCT:88154004|UMLS:C2931809
MONDO:0015433	ring chromosome 17	biolink:Disease	mondo	ICD10:Q93.2|GARD:0004724|MESH:C538046|Orphanet:1441	gard_rare|ordo_malformation_syndrome	R17|Ring chromosome 17 syndrome|Ring 17|chromosome 17 ring|Ring chromosome type 17	http://purl.obolibrary.org/obo/MONDO_0015433		MESH:C538046|ORPHA:1441|UMLS:C2931714
UBERON:0000085	morula	biolink:AnatomicalEntity	mondo			morula (2-16 cells)	http://purl.obolibrary.org/obo/UBERON_0000085	A spherical embryonic mass of blastomeres formed before the blastula and resulting from cleavage of the fertilized ovum.	
ENVO:02500028	planetary erosion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_02500028	An action of exogenic processes (such as water flow or wind) which remove environmental material from one part of a planet's crust, transporting it to another location where it is deposited.	
MONDO:0015439	ring chromosome 4	biolink:Disease	mondo	NCIT:C121983|MESH:C537636|GARD:0001339|Orphanet:1447|ICD10:Q93.2|SCTID:81678004	ordo_malformation_syndrome|gard_rare	Ring 4|chromosome 4 ring|syndrome r(4)|Ring chromosome type 4|rose cluster 4|R4|r(4) syndrome|Ring chromosome 4 syndrome	http://purl.obolibrary.org/obo/MONDO_0015439	Gene expression cluster 4 as determined by Recognition of Outliers by Sampling Ends (ROSE) in high-risk B-precursor acute lymphoblastic leukemia.	SNOMEDCT:81678004|MESH:C537636|ORPHA:1447|UMLS:C0265407|NCIT:C121983|UMLS:C2931556
UBERON:0000080	mesonephros	biolink:AnatomicalEntity	mondo			opistonephros|mesonephroi|opisto nephros|corpus Wolffi|amphibian adult kidney|mesonephric kidney|opisthonephros|middle kidney|Wolffian body	http://purl.obolibrary.org/obo/UBERON_0000080	The second stage of the kidney. It serves as the main excretory organ of aquatic vertebrates and as a temporary embryonic kidney in higher vertebrates. It is composed of the mesonephric duct (also called the Wolffian duct), mesonephric tubules, and associated capillary tufts. A single tubule and its associated capillary tuft is called a mesonephric excretory unit; these units are similar in structure and function to nephrons of the adult kidney. The mesonephros is derived from intermediate mesoderm in the vertebrate embryo.	
MONDO:0015438	ring chromosome 22	biolink:Disease	mondo	SCTID:13555004|UMLS:CN036599|Orphanet:1446|GARD:0001336|MESH:C536795|ICD10:Q93.2	ordo_malformation_syndrome|gard_rare	Ring 22|chromosome 22 ring|R22|Ring chromosome 22 syndrome|Ring chromosome type 22|r(22) syndrome	http://purl.obolibrary.org/obo/MONDO_0015438	Ring chromosome 22 is a rare condition caused by having an abnormal chromosome 22 that forms a ring. In this chromosome abnormality,a segment on the short (p) arm and a segment on the long (q) arm of 22 are missing. The amount of material lost varies from person to person. The remaining ends of chromosome 22 have joined together to make a ring shape. Chromosome 22 is an acrocentric chromosome, meaning that the centromere is near one end, creating a very small short (p) arm that does not contain genes that are relevant to development. Thus, only the lost genes on the long (q) arm matter. Knowing the breakpoint in the long arm is likely more helpful. Most cases are sporadic (happen by chance) and occur in people with no history of the condition in their family.	ORPHA:1446|UMLS:C0265492|MESH:C536795|SNOMEDCT:13555004|UMLS:CN036599|UMLS:C2931325
MONDO:0015437	ring chromosome 21	biolink:Disease	mondo	MESH:C537109|SCTID:31325007|Orphanet:1445|GARD:0006083|ICD10:Q93.2|UMLS:CN037252	gard_rare|ordo_malformation_syndrome	Ring 21|chromosome 21 en anneau|Ring chromosome 21 syndrome|chromosome 21 ring|R21|Ring chromosome type 21	http://purl.obolibrary.org/obo/MONDO_0015437		MESH:C537109|ORPHA:1445|UMLS:C0265487|SNOMEDCT:31325007|UMLS:CN037252|UMLS:C2931422
UBERON:0000081	metanephros	biolink:AnatomicalEntity	mondo			metanephron|definite kidney|definitive kidney|hind kidney|metanephric kidney	http://purl.obolibrary.org/obo/UBERON_0000081	In mammals, the metanephros is the excretory organ of the fetus, which develops into the mature kidney and is formed from the rear portion of the nephrogenic cord. The metanephros is an endocrine and metabolic organ that filters the blood and excretes the end products of body metabolism in the form of urine[GO]	
MONDO:0015432	ring chromosome 12	biolink:Disease	mondo	GARD:0001325|ICD10:Q93.2|UMLS:C0795843|MESH:C538298|Orphanet:1439	ordo_malformation_syndrome|gard_rare	R12|chromosome 12 ring|Ring chromosome type 12|Ring chromosome 12 syndrome|Ring 12	http://purl.obolibrary.org/obo/MONDO_0015432	Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported.	MESH:C538298|ORPHA:1439|UMLS:C0795843
GO:0071103	DNA conformation change	biolink:OntologyClass	mondo			DNA conformation modification	http://purl.obolibrary.org/obo/GO_0071103	A cellular process that results in a change in the spatial configuration of a DNA molecule. A conformation change can bend DNA, or alter the, twist, writhe, or linking number of a DNA molecule.	
UBERON:0000086	zona pellucida	biolink:AnatomicalEntity	mondo			vitelline envelope|zona radiata|zona striata|pellucid zone|striated membrane|zona pellucida - vitelline membrane|oolemma|vitelline membrane	http://purl.obolibrary.org/obo/UBERON_0000086	A glycoprotein membrane surrounding the plasma membrane of an oocyte. It is a vital constitutive part of the latter, external but not extraneous to it. The zona pellucida first appears in multilaminar primary oocytes.	
MONDO:0015431	ring chromosome 10	biolink:Disease	mondo	UMLS:CN037257|UMLS:C0265438|GARD:0001322|SCTID:86997002|ICD10:Q93.2|MESH:C538086|Orphanet:1438	gard_rare|ordo_malformation_syndrome	chromosome 10 ring|Ring chromosome 10 syndrome|r10|Ring 10|Ring chromosome type 10	http://purl.obolibrary.org/obo/MONDO_0015431	Ring chromosome 10 syndrome is characterized by intellectual deficit, growth retardation, and various dysmorphic features. Less than 20 cases have been described. The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases, and clinodactyly. Boys have undescended testes and hypoplastic scrotum. Congenital heart disease, hydronephrosis or renal hypoplasia was present in some of the cases.	ORPHA:1438|UMLS:C0265438|SNOMEDCT:86997002|UMLS:CN037257|UMLS:C2931727|MESH:C538086
UBERON:0000087	inner cell mass	biolink:AnatomicalEntity	mondo			ICM|embryoblastus; massa cellularis interna; pluriblastus senior|early embryoblast|embryoblast|pluriblast	http://purl.obolibrary.org/obo/UBERON_0000087	A mass of cells that develop into the body of the embryo and some extraembryonic tissues	
MONDO:0015430	ring chromosome 1	biolink:Disease	mondo	Orphanet:1437|GTR:AN0102272|UMLS:CN036412|GARD:0001320|NCIT:C36474|MESH:C535361|ICD10:Q93.2|SCTID:47017007	ordo_malformation_syndrome	chromosome 1 ring|chromosome 1, ring|Ring chromosome type 1|r(1) syndrome|Ring chromosome 1 syndrome|Ring 1|R1	http://purl.obolibrary.org/obo/MONDO_0015430		ORPHA:1437|UMLS:C0265395|SNOMEDCT:47017007|UMLS:C1519099|MESH:C535361|UMLS:CN036412|NCIT:C36474
UBERON:0000088	trophoblast	biolink:AnatomicalEntity	mondo			trophoderm|trophoblastus|massa cellularis externa|trophoblast layer	http://purl.obolibrary.org/obo/UBERON_0000088	the mesectodermal cell layer arising from the trophectoderm that erodes the uterine mucosa and contributes to the formation of the placenta	
NCBITaxon:34486	Ancylistaceae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_34486		
NCBITaxon:34487	Conidiobolus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_34487		
MONDO:0003458	uterine corpus adenofibroma	biolink:Disease	mondo	UMLS:C1336901|DOID:5475|NCIT:C6337		adenofibroma of uterine corpus|adenofibroma of body of uterus|adenofibroma of the body of uterus|adenofibroma of the corpus uteri|adenofibroma of the uterine corpus|corpus uteri adenofibroma|adenofibroma of corpus uteri|adenofibroma of uterine body|body of uterus adenofibroma|adenofibroma of the uterine body|uterine body adenofibroma	http://purl.obolibrary.org/obo/MONDO_0003458	A usually polypoid, benign neoplasm that arises from the endometrial cavity. It is characterized by the presence of a mesenchymal core component and an epithelial component that forms a lining on the mesenchymal core.	DOID:5475|NCIT:C6337|UMLS:C1336901
MONDO:0003459	cervical adenofibroma	biolink:Disease	mondo	DOID:5476|NCIT:C40230|UMLS:C1516402			http://purl.obolibrary.org/obo/MONDO_0003459	A benign, polypoid neoplasm that arises from the cervix. It is characterized by the presence of epithelial and mesenchymal elements.	UMLS:C1516402|NCIT:C40230|DOID:5476
MONDO:0027407	Kleefstra syndrome 1	biolink:Disease	mondo	OMIM:610253|DOID:0070075		chromosome 9q34.3 deletion syndrome|9q-syndrome|Kleefstra syndrome|Kleefstra syndrome 1; KLEFS1|obsolete Kleefstra syndrome|KLEFS1|9q subtelomeric deletion syndrome	http://purl.obolibrary.org/obo/MONDO_0027407	An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3.	DOID:0070075|http://identifiers.org/omim/610253
MONDO:0003454	conjunctival cancer	biolink:Disease	mondo	ICD9:190.3|SCTID:363463000|DOID:5467|COHD:373151|NCIT:C3564|ICD10:C69.0		malignant tumor of conjunctiva|cancer of conjunctiva|conjunctiva cancer|malignant conjunctiva neoplasm|malignant conjunctival tumor|malignant neoplasm of conjunctiva (primary)|conjunctival tumor|malignant neoplasm of the conjunctiva|malignant conjunctiva tumor|malignant neoplasm of conjunctiva|malignant conjunctival neoplasm|malignant tumor of the conjunctiva|neoplasm of conjunctiva	http://purl.obolibrary.org/obo/MONDO_0003454	A malignant neoplasm involving the conjunctiva.	DOID:5467|SNOMEDCT:363463000|NCIT:C3564
MONDO:0003455	bile duct papillary neoplasm	biolink:Disease	mondo	ICDO:8503/0|DOID:5468|NCIT:C6881|UMLS:C1879344		IPN|bile duct papillomatosis|bile duct papillary neoplasm|biliary papillomatosis|bile duct papillary epithelial neoplasm|intraductal papillary neoplasm	http://purl.obolibrary.org/obo/MONDO_0003455	A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the intrahepatic or extrahepatic bile ducts.	DOID:5468|UMLS:C1879344|NCIT:C6881
MONDO:0003456	obsolete bile duct mucinous cystic neoplasm	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003456		
MONDO:0003457	obsolete ovarian serous adenofibroma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003457		
MONDO:0003450	eccrine papillary adenoma	biolink:Disease	mondo	NCIT:C4173|DOID:5446|GARD:0010463|SCTID:253021007|UMLS:C0334350|ICDO:8408/0	gard_rare	eccrine papillary adenoma of skin|Papillary eccrine adenoma|Papillary eccrine adenoma	http://purl.obolibrary.org/obo/MONDO_0003450	A benign neoplasm arising from the sweat glands. It is characterized by the presence of eccrine ducts in the dermis containing intraluminal papillary projections.	DOID:5446|NCIT:C4173|UMLS:C0334350|SNOMEDCT:253021007
MONDO:0003451	obsolete laryngeal neuroendocrine tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003451		
MONDO:0003452	cochlear disease	biolink:Disease	mondo	DOID:5463|UMLS:C0009197|MESH:D015834		disease of cochlea|disorder of cochlea|disorder of cochlea|cochlea disease|disease or disorder of cochlea|cochlea disease or disorder	http://purl.obolibrary.org/obo/MONDO_0003452	Pathological processes of the snail-like structure (cochlea) of the inner ear (labyrinth) which can involve its nervous tissue, blood vessels, or fluid (endolymph).	MESH:D015834|UMLS:C0009197|DOID:5463
MONDO:0003453	conjunctival intraepithelial neoplasm	biolink:Disease	mondo	SCTID:418134006|NCIT:C6120|ICD9:239.89|DOID:5465|UMLS:C1333148		intraepithelial neoplasia of the conjunctiva|conjunctival intraepithelial neoplasia|intraepithelial neoplasia of conjunctiva|conjunctiva intraepithelial neoplasia	http://purl.obolibrary.org/obo/MONDO_0003453		DOID:5465|NCIT:C6120|SNOMEDCT:418134006|UMLS:C1333148
MONDO:0015419	midline cervical cleft	biolink:Disease	mondo	ICD10:Q18.8|Orphanet:141288|SCTID:403557001|ICD9:744.89	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0015419	Midline cervical cleft (MCC) is a rare congenital anomaly characterized by the presence at birth of a vertical, atrophic and usually erythematous skin defect, lacking adnexal elements in the midline of the neck that may be attached to a subcutaneous fibrous cord of variable length; a superior skin tag; and an inferior, short (usually about 1 cm in length) sinus (possibly with presence of discharge). If untreated (by surgical removal) complications include restriction of neck extension due to contracture and scarring. It is sometimes associated with other developmental defects such as bifid mandible, thyroglossal duct and branchial cysts, and microgenia.	UMLS:C1274890|ORPHA:141288|SNOMEDCT:403557001
UBERON:0012054	myocoele	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0012054	The cavity within a myotome	
ENVO:02500014	forest process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_02500014		
MONDO:0015425	lethal recessive chondrodysplasia	biolink:Disease	mondo	GARD:0001294|UMLS:C4304745|UMLS:CN199522|Orphanet:1423|SCTID:719404009|ICD10:Q78.8	gard_rare|ordo_malformation_syndrome	chondrodysplasia lethal recessive|Maroteaux-Stanescu-Cousin syndrome	http://purl.obolibrary.org/obo/MONDO_0015425	Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988.	SNOMEDCT:719404009|ORPHA:1423|UMLS:C4304745|UMLS:CN199522
UBERON:0000071	death stage	biolink:AnatomicalEntity	mondo			death	http://purl.obolibrary.org/obo/UBERON_0000071	End of the life of an organism.	
MONDO:0015424	lethal chondrodysplasia, Moerman type	biolink:Disease	mondo	Orphanet:1420|GARD:0003225|ICD10:Q77.8|UMLS:CN199519	gard_rare|ordo_malformation_syndrome	Moerman-Vandenberghe-Fryns syndrome|lethal chondrodysplasia Moerman type	http://purl.obolibrary.org/obo/MONDO_0015424		ORPHA:1420|UMLS:CN199519
UBERON:0000072	proximo-distal subdivision of respiratory tract	biolink:AnatomicalEntity	mondo			respiratory tract|subdivision of respiratory tract	http://purl.obolibrary.org/obo/UBERON_0000072	An section of a respiratory tract.	
MONDO:0015423	obsolete anaplastic thyroid carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015423	Anaplastic thyroid carcinoma may represent the ultimate dedifferentiation step of thyroid tumorigenesis and is one of the most severe cancers in humans.	
UBERON:0000073	regional part of nervous system	biolink:AnatomicalEntity	mondo			part of nervous system	http://purl.obolibrary.org/obo/UBERON_0000073	Any part or collection of parts of the central or peripheral nervous system. Parts may span both CNS and PNS.	
UBERON:0000074	renal glomerulus	biolink:AnatomicalEntity	mondo			glomerular capillary tuft|Malpighian glomerulus|glomerulus|Malphigian glomerulus|renal glomeruli|Malpighian tuft|renal corpuscle|glomerulus renis|glomerular tuft	http://purl.obolibrary.org/obo/UBERON_0000074	A capillary tuft which forms a close network with the visceral epithelium (podocytes) and the mesangium to form the filtration barrier and is surrounded by Bowman's capsule in nephrons of the vertebrate kidney[GO].	
MONDO:0015422	orofaciodigital syndrome type 13	biolink:Disease	mondo	ICD10:Q87.0|Orphanet:141330|UMLS:C2932680|MESH:C548035|SCTID:763835004|GARD:0010694	ordo_malformation_syndrome	OFDS 13|oral-facial-digital syndrome 13|orofaciodigital syndrome 13|oral facial digital syndrome 13|oral-facial-digital syndrome XIII|orofaciodigital syndrome XIII|oral-facial-digital syndrome type 13|OFD13|oral facial digital syndrome type 13|Degner syndrome|OFD syndrome 13	http://purl.obolibrary.org/obo/MONDO_0015422	Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, and brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis, on brain MRI examination, is also associated.	ORPHA:141330|MESH:C548035|SNOMEDCT:763835004|UMLS:C2932680
MONDO:0015429	choroideremia-hypopituitarism syndrome	biolink:Disease	mondo	UMLS:CN226680|Orphanet:1434	ordo_disease	CHM-hypopituitarism syndrome	http://purl.obolibrary.org/obo/MONDO_0015429		UMLS:CN226680|ORPHA:1434
GO:0097708	intracellular vesicle	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0097708	Any vesicle that is part of the intracellular region.	
MONDO:0015428	choroidal atrophy-alopecia syndrome	biolink:Disease	mondo	SCTID:720850008|GARD:0003704|MESH:C535810|Orphanet:1433|UMLS:C2931026	ordo_malformation_syndrome	choroidal atrophy alopecia|Moloney syndrome|fine hair, absent/decreased lashes, absent/decreased eyebrows, visual loss-mild/suspected, dysplastic/thick/grooved toenails and fingernails|regional choroidal atrophy and alopecia	http://purl.obolibrary.org/obo/MONDO_0015428	Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails.	SNOMEDCT:720850008|ORPHA:1433|UMLS:C2931026|MESH:C535810
MONDO:0015427	paroxysmal dyskinesia	biolink:Disease	mondo	ICD10:G24.8|SCTID:49949003|Orphanet:1431|ICD9:333.5	ordo_group_of_disorders	paroxysmal dystonic choreoathetosis|paroxysmal choreoathetosis	http://purl.obolibrary.org/obo/MONDO_0015427	Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome).	MESH:D002819|ORPHA:1431|UMLS:C0752210|SNOMEDCT:49949003
MONDO:0015426	Desbuquois dysplasia	biolink:Disease	mondo	Orphanet:1425|UMLS:CN239270|OMIMPS:251450|ICD9:756.9|NCIT:C124056|GARD:0001818|UMLS:C0432242|DOID:0060462|ICD10:Q78.8|SCTID:254099008	ordo_disease	DBQD|desbuquois syndrome|micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification|Desbuquois dysplasia|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification	http://purl.obolibrary.org/obo/MONDO_0015426	Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant, has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.	UMLS:CN239270|ORPHA:1425|SNOMEDCT:254099008|UMLS:C0432242|MESH:C535943|DOID:0060462|NCIT:C124056
UBERON:0000079	male reproductive system	biolink:AnatomicalEntity	mondo			male organism genitalia|male genital tract|male genitals|male genital organ|male reproductive tract|genitalia of male organism|male genital system|male genitalia|reproductive system of male organism|male organism reproductive system|systema genitale masculinum	http://purl.obolibrary.org/obo/UBERON_0000079	The organs associated with producing offspring in the gender that produces spermatozoa.	
MONDO:0015421	orofaciodigital syndrome type 12	biolink:Disease	mondo	MESH:C548034|ICD10:Q87.0|GARD:0010693|SCTID:763834000|UMLS:C2932679|Orphanet:141327	ordo_malformation_syndrome	OFDS 12|OFD12|oral facial digital syndrome 12|oral-facial-digital syndrome 12|orofaciodigital syndrome 12|orofaciodigital syndrome XII|oral facial digital syndrome type 12|Moran-Barroso syndrome|oral-facial-digital syndrome type 12	http://purl.obolibrary.org/obo/MONDO_0015421	Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated.	ORPHA:141327|MESH:C548034|SNOMEDCT:763834000|UMLS:C2932679
UBERON:0000075	subdivision of skeletal system	biolink:AnatomicalEntity	mondo			skeletal system part|skeletal system subdivision	http://purl.obolibrary.org/obo/UBERON_0000075	Anatomical cluster consisting of the skeletal elements and articular elements that are part of an individual subdivision of the organism.	
MONDO:0015420	cleft lip and alveolus	biolink:Disease	mondo	ICD9:525.8|ICD10:Q36.9|SCTID:373643003|Orphanet:141291|ICD10:Q36.1|ICD10:Q36.0	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0015420	Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees.	ORPHA:141291|UMLS:C1298692|SNOMEDCT:373643003
UBERON:0000076	external ectoderm	biolink:AnatomicalEntity	mondo			surface (external) ectoderm|surface ectoderm	http://purl.obolibrary.org/obo/UBERON_0000076	The surface (external) layer of ectoderm which begins to proliferate shortly after separation from the neuroectoderm.	
UBERON:0000077	mixed endoderm/mesoderm-derived structure	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0000077	An anatomical structure that develops from the endoderm and the mesoderm.	
UBERON:0000078	mixed ectoderm/mesoderm/endoderm-derived structure	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0000078	An anatomical structure that develops from the ectoderm, mesoderm and endoderm.	
GO:0000963	mitochondrial RNA processing	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0000963	The conversion of a primary RNA molecule transcribed from a mitochondrial genome into one or more mature RNA molecules; occurs in the mitochondrion.	
CHEBI:23390	cobalt-corrinoid hexaamide	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_23390		
UBERON:0000101	lobe of lung	biolink:AnatomicalEntity	mondo			pulminory lobe|lung lobe|pulmonary lobe	http://purl.obolibrary.org/obo/UBERON_0000101	A lung lobe is one of the rounded projections that compose the lung[GO].	
UBERON:0000102	lung vasculature	biolink:AnatomicalEntity	mondo			lung vascular network|vasculature of lung|vascular network of lung|pulmonary vasculature	http://purl.obolibrary.org/obo/UBERON_0000102	The lung vasculature is composed of the tubule structures that carry blood or lymph in the lungs[GO].	
UBERON:0000104	life cycle	biolink:AnatomicalEntity	mondo			entire life cycle|life|lifespan|entire lifespan	http://purl.obolibrary.org/obo/UBERON_0000104	An entire span of an organism's life, commencing with the zygote stage and ending in the death of the organism.	
UBERON:0002749	regional part of cerebellar cortex	biolink:AnatomicalEntity	mondo			cerebellar cortical segment|segment of cerebellar cortex	http://purl.obolibrary.org/obo/UBERON_0002749	A regional part of brain that is part of a cerebellar cortex [Automatically generated definition].	
NCBITaxon:1678	Bifidobacterium	organism taxon	mondo	PMID:11594590|PMID:20061504|PMID:17158978|GC_ID:11|PMID:1742200|PMID:8573484		Tissieria|Bifidibacterium	http://purl.obolibrary.org/obo/NCBITaxon_1678		
ECTO:0000637	EC 1.9.3.1 (cytochrome c oxidase) inhibitor exposure	biolink:OntologyClass	mondo			exposure to EC 1.9.3.1 (cytochrome c oxidase) inhibitor	http://purl.obolibrary.org/obo/ECTO_0000637	An exposure to EC 1.9.3.1 (cytochrome c oxidase) inhibitor.	
NCBITaxon:71240	eudicotyledons	organism taxon	mondo	PMID:26724406|GC_ID:1|PMID:25249442		eudicots|Dicotyledoneae|dicots|dicotyledons	http://purl.obolibrary.org/obo/NCBITaxon_71240		
GO:0009306	protein secretion	biolink:OntologyClass	mondo			protein secretion resulting in cell fate commitment|protein secretion during cell fate commitment|glycoprotein secretion	http://purl.obolibrary.org/obo/GO_0009306	The controlled release of proteins from a cell.	
GO:0009308	amine metabolic process	biolink:OntologyClass	mondo			amine metabolism	http://purl.obolibrary.org/obo/GO_0009308	The chemical reactions and pathways involving any organic compound that is weakly basic in character and contains an amino or a substituted amino group. Amines are called primary, secondary, or tertiary according to whether one, two, or three carbon atoms are attached to the nitrogen atom.	
GO:0009309	amine biosynthetic process	biolink:OntologyClass	mondo			amine anabolism|amine synthesis|amine biosynthesis|amine formation	http://purl.obolibrary.org/obo/GO_0009309	The chemical reactions and pathways resulting in the formation of any organic compound that is weakly basic in character and contains an amino or a substituted amino group. Amines are called primary, secondary, or tertiary according to whether one, two, or three carbon atoms are attached to the nitrogen atom.	
GO:0000976	transcription regulatory region sequence-specific DNA binding	biolink:OntologyClass	mondo			transcription regulatory region DNA binding|regulatory region DNA binding	http://purl.obolibrary.org/obo/GO_0000976	Interacting selectively and non-covalently with a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon.	
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	biolink:OntologyClass	mondo			RNA polymerase II regulatory region DNA binding	http://purl.obolibrary.org/obo/GO_0000977	Interacting selectively and non-covalently with a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II.	
CHEBI:50996	tertiary amino compound	biolink:ChemicalSubstance	mondo			tertiary amino compounds	http://purl.obolibrary.org/obo/CHEBI_50996	A compound formally derived from ammonia by replacing three hydrogen atoms by organyl groups.	
CHEBI:50995	secondary amino compound	biolink:ChemicalSubstance	mondo			secondary amino compounds	http://purl.obolibrary.org/obo/CHEBI_50995	A compound formally derived from ammonia by replacing two hydrogen atoms by organyl groups.	
CHEBI:50994	primary amino compound	biolink:ChemicalSubstance	mondo			primary amino compounds	http://purl.obolibrary.org/obo/CHEBI_50994	A compound formally derived from ammonia by replacing one hydrogen atom by an organyl group.	
PATO:0000389	acute	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0000389	A quality of a process inhering in a bearer by virtue of the bearer's having a sudden onset, sharp rise, and short course.	
UBERON:0014720	interlobar duct	biolink:AnatomicalEntity	mondo			intralobular ductule	http://purl.obolibrary.org/obo/UBERON_0014720	A duct that is located between lobes, within conspicuous, thick connective tissue septa that separate lobes. All interlobar ducts are excretory.	
NCBITaxon:1647	Erysipelothrix	organism taxon	mondo	PMID:7537073|GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_1647		
NCBITaxon:1648	Erysipelothrix rhusiopathiae	organism taxon	mondo	PMID:8427802|PMID:1503975|GC_ID:11		Erysipelothrix erysipeloides|Bacterium rhusiopathiae|Erysipelothrix insidiosa|Bacillus insidiosus|Erysipelothrix porci|Bacillus rhusiopathiae suis|Erysipelothrix murisepticus	http://purl.obolibrary.org/obo/NCBITaxon_1648		
NCBITaxon:71275	rosids	organism taxon	mondo	GC_ID:1		Rosidae	http://purl.obolibrary.org/obo/NCBITaxon_71275		
UBERON:0014717	mucous acinus	biolink:AnatomicalEntity	mondo			acinus of mucuous gland|mucus acinus	http://purl.obolibrary.org/obo/UBERON_0014717	The secretory unit of a mucous gland. The acinar portion is composed of mucous secreting cells.	
NCBITaxon:71274	asterids	organism taxon	mondo	PMID:12144762|GC_ID:1		Asteridae	http://purl.obolibrary.org/obo/NCBITaxon_71274		
UBERON:0014719	intralobular duct	biolink:AnatomicalEntity	mondo			intralobular ductule	http://purl.obolibrary.org/obo/UBERON_0014719	A duct that is located within a lobule, with no more connective tissue intervening between ducts and secretory units (i.e., acini or tubules) than between adjacent secretory units. Intercalated and striated ducts are intralobular	
HGNC:9403	PRKCH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9403		
CHEBI:35358	sulfonamide	biolink:ChemicalSubstance	mondo			sulfonamides|sulfonamides	http://purl.obolibrary.org/obo/CHEBI_35358	An amide of a sulfonic acid RS(=O)2NR'2.	
PATO:0000387	soft	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0000387	A hardness quality of giving little resistance to pressure.	
UBERON:0014716	interlobular duct	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0014716	A duct that is located between lobules, within the thin connective tissue septa that separate lobules. All interlobular ducts are excretory.	
PATO:0000386	hard	biolink:OntologyClass	mondo			firm|tough|impenetrable	http://purl.obolibrary.org/obo/PATO_0000386	A hardness quality of being rigid and resistant to pressure.	
CHEBI:35350	hydroxy steroid	biolink:ChemicalSubstance	mondo			Hydroxysteroid|hydroxysteroids|hydroxy steroids	http://purl.obolibrary.org/obo/CHEBI_35350		
HGNC:9402	PRKCG	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9402		
CHEBI:35352	organonitrogen compound	biolink:ChemicalSubstance	mondo			organonitrogen compounds|organonitrogens	http://purl.obolibrary.org/obo/CHEBI_35352	Any heteroorganic entity containing at least one carbon-nitrogen bond.	
NCBITaxon:1653	Corynebacteriaceae	organism taxon	mondo	PMID:27864136|PMID:19244447|GC_ID:11|PMID:30186281		Coryneform bacteria	http://purl.obolibrary.org/obo/NCBITaxon_1653		
NCBITaxon:1654	Actinomyces	organism taxon	mondo	GC_ID:11|PMID:30186281		Actinocladothrix|Discomyces	http://purl.obolibrary.org/obo/NCBITaxon_1654		
UBERON:0002726	cervical spinal cord	biolink:AnatomicalEntity	mondo			cervical segment of spinal cord|segmenta cervicalia medullae spinalis [1-8|cervical segments of spinal cord [1-8]|pars cervicalis medullae spinalis|cervical spinal cord	http://purl.obolibrary.org/obo/UBERON_0002726	A spinal cord segment that adjacent_to a cervical region.	
NCBITaxon:1659	Actinomyces israelii	organism taxon	mondo	GC_ID:11|PMID:30186281		Actinobacterium israeli|Discomyces israeli|Corynebacterium israeli|Nocardia israeli|Streptothrix israeli|Oospora israeli|Proactinomyces israeli|Brevistreptothrix israeli|Cohnistreptothrix israeli	http://purl.obolibrary.org/obo/NCBITaxon_1659		
CHEBI:35366	fatty acid	biolink:ChemicalSubstance	mondo			acide gras|Fatty acid|fatty acids|acido graso|acides gras|Fettsaeure|acidos grasos|Fettsaeuren|fatty acids	http://purl.obolibrary.org/obo/CHEBI_35366	Any aliphatic monocarboxylic acid derived from or contained in esterified form in an animal or vegetable fat, oil or wax.	
UBERON:0014706	primitive renal collecting duct system	biolink:AnatomicalEntity	mondo			primitive collecting duct|metanephros primitive collecting ducts	http://purl.obolibrary.org/obo/UBERON_0014706		
HGNC:9414	PRKG1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9414		
NCBITaxon:227859		organism taxon	mondo				http://purl.obolibrary.org/obo/NCBITaxon_227859		
UBERON:0014702	frontonasal process epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0014702	A epithelium that is part of a frontonasal prominence.	
UBERON:0014703	anal membrane ectodermal component	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0014703	A unilaminar epithelium that develops_from a ectoderm and is part of a anal region.	
UBERON:0014704	pleuroperitoneal canal lumen	biolink:AnatomicalEntity	mondo			pleuro-peritoneal canal cavity	http://purl.obolibrary.org/obo/UBERON_0014704	A anatomical space that is enclosed by a pleuroperitoneal canal.	
UBERON:0014705	median lingual swelling epithelium	biolink:AnatomicalEntity	mondo			tuberculum impar epitheilium	http://purl.obolibrary.org/obo/UBERON_0014705	A epithelium that is part of a median lingual swelling.	
UBERON:0002731	vestibulocochlear nerve root	biolink:AnatomicalEntity	mondo			vestibulocochlear nerve roots|vestibulocochlear nerve fibers|statoacoustic nerve fibers|central part of vestibulocochlear nerve|fibrae nervi statoacustici|root of vestibulocochlear nerve|vestibulocochlear nerve tract	http://purl.obolibrary.org/obo/UBERON_0002731	Either of the two roots that come of the vestibulocochlear nerve	
GO:0000959	mitochondrial RNA metabolic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0000959	The chemical reactions and pathways involving RNA transcribed from the mitochondrial genome and occurring in the mitochondrion.	
HGNC:9413	PRKDC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9413		
HGNC:9411	PRKCSH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9411		
MONDO:0005923	Pneumocystis infectious disease	biolink:Disease	mondo	EFO:0007447|MESH:D016720|UMLS:C0851886		Pneumocystis infection|infections, Pneumocystis	http://purl.obolibrary.org/obo/MONDO_0005923	Infections with species in the genus pneumocystis, a fungus causing interstitial plasma cell pneumonia (pneumonia, pneumocystis) and other infections in humans and other mammals. Immunocompromised patients, especially those with aids, are particularly susceptible to these infections. Extrapulmonary sites are rare but seen occasionally.	MESH:D016720|UMLS:C0851886
MONDO:0005922	pleural tuberculosis	biolink:Disease	mondo	EFO:0007446|ICD9:010.16|SCTID:186172004|ICD10:A15.6|ICD9:012.00|NCIT:C26898|ICD9:012.0|ICD9:010.12|ICD9:010.1|MESH:D014396|ICD9:010.10|DOID:106		pearly disease|tuberculosis of pleura|tuberculous pleuritis|tuberculous pleurisy|pleura tuberculosis|tuberculous pleurisy in primary progressive tuberculosis	http://purl.obolibrary.org/obo/MONDO_0005922	Inflammation of the pleura secondary to an infection with Mycobacterium tuberculosis.	NCIT:C26898|MESH:D014396|DOID:106|SNOMEDCT:186172004
NCBITaxon:129369	Pulicoidea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_129369		
MONDO:0005925	pneumonic pasteurellosis	biolink:Disease	mondo	MESH:D012766|UMLS:C0036969|EFO:0007449			http://purl.obolibrary.org/obo/MONDO_0005925	Bovine respiratory disease found in animals that have been shipped or exposed to cattle recently transported. The major agent responsible for the disease is mannheimia haemolytica and less commonly, pasteurella multocida or haemophilus somnus. All three agents are normal inhabitants of the bovine nasal pharyngeal mucosa but not the lung. They are considered opportunistic pathogens following stress, physiological and/or a viral infection. The resulting bacterial fibrinous bronchopneumonia is often fatal.	MESH:D012766|UMLS:C0036969
UBERON:0014780	palatine aponeurosis	biolink:AnatomicalEntity	mondo			aponeurosis of tensor veli palatini|aponeurosis palatina	http://purl.obolibrary.org/obo/UBERON_0014780	Attached to the posterior border of the hard palate is a thin, firm fibrous lamella called the palatine aponeurosis, which supports the muscles and gives strength to the soft palate. It is thicker above than below, where it becomes very thin and difficult to define. Laterally it is continuous with the pharyngeal aponeurosis. It serves as the insertion for the Tensor veli palatini and Levator veli palatini, and the origin for the Musculus uvulae, Palatopharyngeus, and Palatoglossus. It provides support for the soft palate.	
CHEBI:23354	coenzyme	biolink:ChemicalSubstance	mondo			coenzymes|coenzyme	http://purl.obolibrary.org/obo/CHEBI_23354	A low-molecular-weight, non-protein organic compound participating in enzymatic reactions as dissociable acceptor or donor of chemical groups or electrons.	
MONDO:0005924	obsolete pneumocystosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005924		
CHEBI:23359	colchicine	biolink:ChemicalSubstance	mondo			N-(1,2,3,10-tetramethoxy-9-oxo-5,6,7,9-tetrahydrobenzo[a]heptalen-7-yl)acetamide	http://purl.obolibrary.org/obo/CHEBI_23359	An  alkaloid that is a carbotricyclic compound comprising 5,6,7,9-tetrahydrobenzo[a]heptalene having four methoxy substituents at the 1-, 2-, 3- and 10-positions as well as an oxo group at the 9-position and an acetamido group at the 7-position. It has been isolated from the plants belonging to genus Colchicum.	
MONDO:0005921	Plasmodium vivax malaria	biolink:Disease	mondo	NCIT:C34800|EFO:0007445|UMLS:C0024537|ICD10:B51|COHD:433960|SCTID:27052006|ICD10:B51.9|ICD9:084.1|DOID:12978|MESH:D016780		vivax malaria|malaria by Plasmodium vivax	http://purl.obolibrary.org/obo/MONDO_0005921	Malaria resulting from infection by Plasmodium vivax.	SNOMEDCT:27052006|DOID:12978|MESH:D016780|NCIT:C34800|UMLS:C0024537
CHEBI:23357	cofactor	biolink:ChemicalSubstance	mondo			cofactor|cofactors	http://purl.obolibrary.org/obo/CHEBI_23357	An organic molecule or ion (usually a metal ion) that is required by an enzyme for its activity. It may be attached either loosely (coenzyme) or tightly (prosthetic group).	
MONDO:0005920	Plasmodium falciparum malaria	biolink:Disease	mondo	EFO:0007444|UMLS:C0024535|ICD9:084.9|DOID:14067|COHD:438343|ICD10:B50|MESH:D016778|NCIT:C34798|ICD9:084.0|SCTID:62676009|ICD10:B50.9		falciparum malaria|malaria fever, subtertian|malignant tertian fever (finding)|Plasmodium falciparum malaria, unspecified|falciparum malaria [malignant tertian]|malignant tertian fever	http://purl.obolibrary.org/obo/MONDO_0005920	Malaria resulting from infection by Plasmodium falciparum.	SNOMEDCT:62676009|MESH:D016778|DOID:14067|NCIT:C34798|UMLS:C0024535
MONDO:0017909	inherited glutathione synthetase deficiency	biolink:Disease	mondo	UMLS:C0398746|SCTID:234589002|Orphanet:32|ICD10:D55.1|MESH:C536835|NCIT:C128193|GARD:0010047	ordo_disease	pyroglutamicaciduria|rare inborn error of glutathione synthase activity|glutathione synthetase deficiency|inborn error of glutathione synthase activity|inborn glutathione synthase activity disorder|5-oxoprolinuria|rare inborn error of glutathione synthase activity|pyroglutamic aciduria|oxoprolinase deficiency|GSSD|glutathione synthetase deficiency	http://purl.obolibrary.org/obo/MONDO_0017909	Glutathione synthetase deficiency is characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.	NCIT:C128193|UMLS:C0398746|SNOMEDCT:234589002|MESH:C536835|ORPHA:32|UMLS:C1291643
HP:0031466	Impairment in personality functioning	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0031466	A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning.	
MONDO:0017905	X-linked mendelian susceptibility to mycobacterial diseases	biolink:Disease	mondo	ICD10:D84.8|Orphanet:319605|SCTID:719814009|UMLS:C4304413|UMLS:CN203967	ordo_disease|predisposition	X-linked MSMD|mendelian susceptibility to mycobacterial diseases, X-linked	http://purl.obolibrary.org/obo/MONDO_0017905	X-linked (XR) Mendelian susceptibility to mycobacterial diseases (MSMD) describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occuring in males.	UMLS:C4304413|SNOMEDCT:719814009|ORPHA:319605|UMLS:CN203967
MONDO:0017906	amyloidosis cutis dyschromia	biolink:Disease	mondo	ICD10:L99.0*|Orphanet:319635|ICD10:E85.4+	ordo_disease	amyloidosis cutis dyschromica	http://purl.obolibrary.org/obo/MONDO_0017906	Amyloidosis cutis dyschromia is a rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare.	ORPHA:319635
UBERON:0014783	cloacal muscle	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0014783	Any muscle organ that is part of a cloaca.	
UBERON:0012125	dermatological-muscosal system	biolink:AnatomicalEntity	mondo			dermatological system	http://purl.obolibrary.org/obo/UBERON_0012125	Anatomical system that consists of the integumental system plus all mucosae and submucosae.	
MONDO:0017907	primary lymphoma of the conjunctiva	biolink:Disease	mondo	UMLS:CN203974|Orphanet:319667|ICD10:C85.7|SCTID:763477007	ordo_disease	conjunctiva primary organ-specific lymphoma|lymphoma of conjunctiva|conjunctiva lymphoma|primary lymphoid conjunctival tumor|primary organ-specific lymphoma of conjunctiva	http://purl.obolibrary.org/obo/MONDO_0017907	Primary lymphoma of the conjunctiva is an extremely rare clonal lymphoid proliferation of the ocular surface, with an indolent course. Clinically it presents with treatment-resistant conjunctivitis, ptosis, excessive tear production or as a painless, salmon-pink, ''fleshy'' patch, with a smooth or multinodular surface, on the bulbar conjunctiva. Histologically it is usually B-cell Non-Hodgkin lymphoma (most often extranodal marginal zone B-cell lymphoma, followed by follicular and diffuse large B-cell lymphoma), with conjunctival T-cell Non-Hodgkin lymphoma being very rare.	SNOMEDCT:763477007|ORPHA:319667|UMLS:CN203974
MONDO:0017908	obsolete hyperekplexia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0017908		
MONDO:0017912	X-linked pure spastic paraplegia	biolink:Disease	mondo	ICD10:G11.4|Orphanet:320332	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017912		ORPHA:320332
MONDO:0017913	pure or complex hereditary spastic paraplegia	biolink:Disease	mondo	ICD10:G11.4|UMLS:CN227219|Orphanet:320335	ordo_group_of_disorders	Pure or complex familial spastic paraplegia|Pure or complicated hereditary spastic paraplegia|Pure or complicated familial spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0017913		UMLS:CN227219|ORPHA:320335
MONDO:0017914	pure or complex autosomal dominant spastic paraplegia	biolink:Disease	mondo	Orphanet:320342|ICD10:G11.4	ordo_group_of_disorders	Pure or complicated autosomal dominant spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0017914		ORPHA:320342
MONDO:0017915	pure or complex autosomal recessive spastic paraplegia	biolink:Disease	mondo	ICD10:G11.4|Orphanet:320346	ordo_group_of_disorders	Pure or complicated autosomal recessive spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0017915		ORPHA:320346
CHEBI:35337	central nervous system stimulant	biolink:ChemicalSubstance	mondo			analeptic|analeptics|central nervous system stimulant|analeptic drug|CNS stimulant|central stimulant|analeptic agent	http://purl.obolibrary.org/obo/CHEBI_35337	Any drug that enhances the activity of the central nervous system.	
MONDO:0017910	dehydrated hereditary stomatocytosis	biolink:Disease	mondo	DC:0000714|DOID:0111575|ICD10:D58.8|SCTID:715526002|Orphanet:3202|GARD:0005623	ordo_disease|gard_rare	hereditary xerocytosis|Desiccytosis hereditary|xerocytosis hereditary	http://purl.obolibrary.org/obo/MONDO_0017910	Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed.	ORPHA:3202|DOID:0111575|SNOMEDCT:715526002
MONDO:0017911	cleft lip/palate-ectodermal dysplasia syndrome	biolink:Disease	mondo	UMLS:CN229116|Orphanet:320317	ordo_group_of_disorders	CLEPD	http://purl.obolibrary.org/obo/MONDO_0017911		UMLS:CN229116|ORPHA:320317
CHEBI:35338	amphetamines	biolink:ChemicalSubstance	mondo			amphetamine drug	http://purl.obolibrary.org/obo/CHEBI_35338	Amines that constitute a class of central nervous system stimulants based on the structure of the parent amphetamine 1-phenylpropan-2-amine.	
MONDO:0005919	placental insufficiency	biolink:Disease	mondo	ICD10:O36.5|SCTID:237292005|DOID:3891|UMLS:C0032051|EFO:0007443|ICD9:762.2|MESH:D010927|Orphanet:439167	ordo_clinical_syndrome	uteroplacental vascular insufficiency|insufficiency, placental	http://purl.obolibrary.org/obo/MONDO_0005919	Failure of the placenta to deliver an adequate supply of nutrients and oxygen to the fetus.	DOID:3891|SNOMEDCT:237292005|MESH:D010927|ORPHA:439167|UMLS:C0032051
MONDO:0005916	placenta accreta	biolink:Disease	mondo	DOID:4744|NCIT:C26856|ICD10:O43.21|EFO:0007440|MESH:D010921|SCTID:70129008		placenta Percreta|placenta Increta|Percreta, placenta|accreta, placenta|Increta, placenta	http://purl.obolibrary.org/obo/MONDO_0005916	The clinical condition in which any part of the placenta invades and is inseparable from the uterine wall. (reVITALize)	DOID:4744|MESH:D010921|NCIT:C26856|SNOMEDCT:70129008
MONDO:0005915	pityriasis versicolor	biolink:Disease	mondo	SCTID:56454009|EFO:0007439|NCIT:C82981|COHD:134870|ICD9:111.0|UMLS:C0040262|DOID:9060|MESH:D014010|ICD10:B36.0		tinea versicolor|Malassezia furfur infection|infections, Malassezia furfur|tinea flava|infection by Pityrosporum furfur	http://purl.obolibrary.org/obo/MONDO_0005915	A yeast infection usually manifested as a superficial skin infection. It may also present as a systemic infection in patients who are receiving total parenteral nutrition.	UMLS:C0040262|DOID:9060|SNOMEDCT:56454009|MESH:D014010|NCIT:C82981
MONDO:0005918	placenta praevia	biolink:Disease	mondo	DOID:11060|NCIT:C26858|MESH:D010923|ICD10:O44|EFO:0007442|SCTID:36813001		placenta praevia|placenta previa	http://purl.obolibrary.org/obo/MONDO_0005918	Abnormal placentation in which the placenta implants in the lower segment of the uterus (the zone of dilation) and may cover part or all of the opening of the cervix. It is often associated with serious antepartum bleeding and premature labor.	DOID:11060|SNOMEDCT:36813001|MESH:D010923|NCIT:C26858
MONDO:0005917	placenta disease	biolink:Disease	mondo	NCIT:C26857|ICD9:646.9|ICD10:O43.9|ICD10:O43.90|GARD:0007402|EFO:0007441|MESH:D010922|ICD9:656.70|DOID:780|ICD10:O43|SCTID:125586008		disease, placenta|placental disease|placenta disease|placental disorder|placenta disease or disorder|disorder of placenta|placental diseases|diseases, placenta|placenta disorder|diseases, placental|placenta diseases|disease of placenta|disorders, placenta|placenta disorders|disease or disorder of placenta|disorder of placenta|disease, placental|disorder, placenta	http://purl.obolibrary.org/obo/MONDO_0005917	A disease involving the placenta.	DOID:780|NCIT:C34941|MESH:D010922|NCIT:C26857|SNOMEDCT:125586008
MONDO:0005934	obsolete pyruvate decarboxylase deficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005934		
MONDO:0005933	pulmonary blastoma	biolink:Disease	mondo	ICDO:8972/3|UMLS:C0206629|ICD9:162.9|NCIT:C3732|ICD10:C34.9|ICD10:C34.8|DOID:4765|SCTID:189815007|ICD10:C34.3|MESH:D018202|ICD10:C34.2|ICD10:C34.1|EFO:0007458|Orphanet:64741	ordo_disease	blastoma of the lung|blastoma of lung|lung blastoma|Pneumoblastoma|pulmonary blastoma	http://purl.obolibrary.org/obo/MONDO_0005933	A malignant neoplasm of the lung composed of tubular structures and immature mesenchymal elements, which may differentiate towards skeletal and smooth muscle, cartilage or a combination of muscle and cartilage. This is a nodular tumor found in the periphery of the lung. It can occur at any age. The prognosis is related to the stage of the disease at the time of resection. Pulmonary blastoma is divided into two subtypes: epithelial predominant and biphasic.	MESH:D018202|ORPHA:64741|NCIT:C3732|SNOMEDCT:189815007|DOID:4765|UMLS:C0206629
CHEBI:23367	molecular entity	biolink:ChemicalSubstance	mondo			molecular entity|entidades moleculares|molecular entities|molekulare Entitaet|entidad molecular|entite moleculaire	http://purl.obolibrary.org/obo/CHEBI_23367	Any constitutionally or isotopically distinct atom, molecule, ion, ion pair, radical, radical ion, complex, conformer etc., identifiable as a separately distinguishable entity.	
MONDO:0005936	recurrent pneumonia (disease)	biolink:Disease	mondo	EFO:0007461|HP:0006532|SCTID:699014000		recurrent pneumonia	http://purl.obolibrary.org/obo/MONDO_0005936	Infections with nontuberculous mycobacteria (atypical mycobacteria): M. kansasii, M. marinum, M. scrofulaceum, M. flavescens, M. gordonae, M. obuense, M. gilvum, M. duvali, M. szulgai, M. intracellulare (see mycobacterium avium complex;), M. xenopi (littorale), M. ulcerans, M. buruli, M. terrae, M. fortuitum (minetti, giae), M. chelonae.	SNOMEDCT:699014000
MONDO:0005935	obsolete reactive arthritis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005935		
UBERON:0014770	palpebral artery	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0014770	An artery that supplies blood to an eyelid.	
MONDO:0005930	obsolete postpoliomyelitis syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005930		
UBERON:0000127	facial nucleus	biolink:AnatomicalEntity	mondo			facial nerve nucleus|facial VII motor nucleus|facial VII nucleus|nucleus of facial nerve	http://purl.obolibrary.org/obo/UBERON_0000127	the group of motor neurons residing in the pons that innervate the muscles of facial expression	
MONDO:0005932	pseudorabies	biolink:Disease	mondo	MESH:D011557|UMLS:C0033839|EFO:0007457			http://purl.obolibrary.org/obo/MONDO_0005932	A highly contagious herpesvirus infection affecting the central nervous system of swine, cattle, dogs, cats, rats, and other animals.	UMLS:C0033839|MESH:D011557
MONDO:0005931	obsolete progressive multifocal leukoencephalopathy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005931		
UBERON:0014775	prosomere	biolink:AnatomicalEntity	mondo			future prosencephalon|segment of forebrain|forebrain segment|forebrain neuromere	http://purl.obolibrary.org/obo/UBERON_0014775	A neuromere that is part of the presumptive forebrain	
UBERON:0014776	midbrain neuromere	biolink:AnatomicalEntity	mondo			neuromere of mesomere group|mesomere group|future mesencephalon|midbrain segment|mesomere of nervous system|mesomere|segment of midbrain	http://purl.obolibrary.org/obo/UBERON_0014776	A neuromere that is part of the presumptive midbrain	
UBERON:0014777	spinal neuromere	biolink:AnatomicalEntity	mondo			spinal cord metameric segment|spinal neuromeres|spinal cord segment	http://purl.obolibrary.org/obo/UBERON_0014777	A neuromere that is part of the presumptive spinal cord	
MONDO:0017901	autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency	biolink:Disease	mondo	UMLS:CN203960|Orphanet:319569|ICD10:D84.8	ordo_disease|predisposition	autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1|IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency|autosomal recessive MSMD due to partial IFNgammaR1 deficiency|autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency	http://purl.obolibrary.org/obo/MONDO_0017901	Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFN-gammaR1 deficiency is a genetic variant of MSMD characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM).	ORPHA:319569|UMLS:CN203960
CHEBI:35344	21-hydroxy steroid	biolink:ChemicalSubstance	mondo			21-hydroxy steroids|21-hydroxysteroids|21-Hydroxysteroid	http://purl.obolibrary.org/obo/CHEBI_35344		
HGNC:9438	PRKRA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9438		
MONDO:0017902	autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency	biolink:Disease	mondo	UMLS:CN203961|ICD10:D84.8|Orphanet:319574	ordo_disease|predisposition	autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2|autosomal recessive MSMD due to partial IFNgammaR2 deficiency|autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency|IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency	http://purl.obolibrary.org/obo/MONDO_0017902	Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM).	ORPHA:319574|UMLS:CN203961
HGNC:9439	DNAJC3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9439		
CHEBI:35346	11beta-hydroxy steroid	biolink:ChemicalSubstance	mondo			11beta-Hydroxysteroid|an 11beta-hydroxysteroid|11beta-hydroxy steroids|11beta-hydroxysteroids	http://purl.obolibrary.org/obo/CHEBI_35346	Any 11-hydroxy steroid in which the hydroxy group at position 11 has beta- configuration.	
MONDO:0017903	autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency	biolink:Disease	mondo	Orphanet:319589|ICD10:D84.8|UMLS:CN203963	ordo_disease|predisposition	autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency|autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2|IFNGR2 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency|autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency|autosomal dominant MSMD due to partial IFNgammaR2 deficiency	http://purl.obolibrary.org/obo/MONDO_0017903	Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM).	ORPHA:319589|UMLS:CN203963
MONDO:0017904	steroid dehydrogenase deficiency-dental anomalies syndrome	biolink:Disease	mondo	SCTID:723583009|ICD10:K76.8|UMLS:C2931508|GARD:0005015|Orphanet:3196|MESH:C537490	ordo_disease	severe dental aberrations in familial steroid dehydrogenase deficiency|Lyngstadaas syndrome|steroid dehydrogenase deficiency dental anomalies	http://purl.obolibrary.org/obo/MONDO_0017904	Steroid dehydrogenase deficiency-dental anomalies syndrome is an autosomal recessive liver disease which was associated with numerical dental aberrations in a consanguineous Arabi Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralisation and enamel hypoplasia found in this family is thought to be secondary to malabsorption due to liver disease.	UMLS:C2931508|SNOMEDCT:723583009|ORPHA:3196|MESH:C537490
UBERON:0014768	superior palpebral vein	biolink:AnatomicalEntity	mondo			venae palpebrales superiores	http://purl.obolibrary.org/obo/UBERON_0014768	A blood vessel that drains from from an upper eyelid.	
UBERON:0014769	palpebral vein	biolink:AnatomicalEntity	mondo			venae palpebrales|palpebral veins	http://purl.obolibrary.org/obo/UBERON_0014769	A blood vessel that drains from from an eyelid.	
MONDO:0017900	autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency	biolink:Disease	mondo	Orphanet:319547|UMLS:CN203956|ICD10:D84.8	ordo_disease|predisposition	autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IFNGR2|MSMD due to complete interferon gamma receptor 2 deficiency|IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency|MSMD due to complete IFNgammaR2 deficiency|Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency	http://purl.obolibrary.org/obo/MONDO_0017900	Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM).	ORPHA:319547|UMLS:CN203956
MONDO:0005927	polyomavirus infectious disease	biolink:Disease	mondo	UMLS:C0949804|MESH:D027601|EFO:0007451			http://purl.obolibrary.org/obo/MONDO_0005927	Infections with polyomavirus, which are often cultured from the urine of kidney transplant patients. Excretion of bk virus is associated with ureteral strictures and cystitis, and that of jc virus with progressive multifocal leukoencephalopathy (leukoencephalopathy, progressive multifocal).	UMLS:C0949804|MESH:D027601
UBERON:0002792	lumbar spinal cord	biolink:AnatomicalEntity	mondo			pars lumbalis medullae spinalis|lumbar segment of spinal cord|lumbar segments of spinal cord [1-5]|spinal cord lumbar segment|lumbar spinal cord|segmenta lumbalia medullae spinalis [1-5]	http://purl.obolibrary.org/obo/UBERON_0002792	.	
MONDO:0005926	obsolete poliomyelitis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005926		
MONDO:0005929	postpartum depression	biolink:Disease	mondo	SCTID:279225001|NCIT:C92852|MESH:D019052|EFO:0007453|DOID:9478|ICD10:F53		postpartum depression|postnatal depression|depression, post-partum|post-partum depression|post partum depression|post Natal depression|major depressive episode with peripartum onset|depression, post-Natal|depressive episode with postpartum onset|maternity blues|post-Natal depression|depression, postnatal	http://purl.obolibrary.org/obo/MONDO_0005929	A type of clinical depression that occurs after childbirth.	MESH:D019052|SNOMEDCT:279225001|NCIT:C92852|DOID:9478
MONDO:0005928	post-thrombotic syndrome	biolink:Disease	mondo	ICD9:459.11|ICD9:459.10|SCTID:20427003|DOID:2364|EFO:0007452|ICD10:I87.0|ICD9:459.1|ICD9:459.13|ICD9:459.12|MESH:D011186		postphlebetic syndrome with ulcer and inflammation|postphlebetic syndrome with inflammation|postphlebitic syndrome|venous stress disorder|postphlebetic syndrome with ulcer	http://purl.obolibrary.org/obo/MONDO_0005928	A condition characterized by a chronically swollen limb, often a leg with stasis dermatitis and ulcerations. This syndrome can appear soon after phlebitis or years later. Postphlebitic syndrome is the result of damaged or incompetent venous valves in the limbs. Distended, tortuous varicose veins are usually present. Leg pain may occur after long period of standing.	MESH:D011186|DOID:2364|SNOMEDCT:20427003
CHEBI:35341	steroid	biolink:ChemicalSubstance	mondo			Steroid|a steroid|steroids	http://purl.obolibrary.org/obo/CHEBI_35341	Any of naturally occurring compounds and synthetic analogues, based on the cyclopenta[a]phenanthrene carbon skeleton, partially or completely hydrogenated; there are usually methyl groups at C-10 and C-13, and often an alkyl group at C-17. By extension, one or more bond scissions, ring expansions and/or ring contractions of the skeleton may have occurred. Natural steroids are derived biogenetically from squalene, so may be considered as triterpenoids.	
WIKIDATA:Q715269	World Ocean	biolink:OntologyClass	mondo				https://www.wikidata.org/wiki/Q715269	Earth's interconnected water system	
MONDO:0005901	pasteurellosis	biolink:Disease	mondo	ICD10:A28.0|EFO:0007424|COHD:436897|UMLS:C0030636|DOID:11055|ICD9:027.2|SCTID:83172007|MESH:D010326		Pasteurella infectious disease|Pasteurella caused disease or disorder|Pasteurella disease or disorder|Pasteurella infection	http://purl.obolibrary.org/obo/MONDO_0005901	Infections with bacteria of the genus pasteurella.	UMLS:C0030636|MESH:D010326|DOID:11055|SNOMEDCT:83172007
MONDO:0005900	parotitis	biolink:Disease	mondo	ICD10:K11.2|EFO:0007423|DOID:10301|UMLS:C0030583|NCIT:C114281|MESH:D010309|SCTID:14756005		inflammation of parotid gland|parotid gland inflammation	http://purl.obolibrary.org/obo/MONDO_0005900	Inflammation of the parotid glands.	SNOMEDCT:14756005|NCIT:C114281|MESH:D010309|DOID:10301|UMLS:C0030583
CHEBI:23334	cobalamins	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_23334		
MONDO:0005903	pericardial tuberculosis	biolink:Disease	mondo	ICD10:A18.84|EFO:0007426|UMLS:C0031049|MESH:D010495|SCTID:67256000|ICD9:017.90|DOID:4962		tuberculous pericarditis	http://purl.obolibrary.org/obo/MONDO_0005903	Inflammation of the sac surrounding the heart (pericardium) due to mycobacterium tuberculosis infection. Pericarditis can lead to swelling (pericardial effusion), compression of the heart (cardiac tamponade), and preventing normal beating of the heart.	DOID:4962|MESH:D010495|UMLS:C0031049|SNOMEDCT:67256000
MONDO:0005902	peanut allergic reaction	biolink:Disease	mondo	DOID:4378|SCTID:91935009|EFO:0007425|UMLS:C0559470|COHD:4240902|ICD9:995.3|MESH:D021183		pigmented ciliary epithelial cell nut allergic reaction|nut allergic reaction of pigmented ciliary epithelial cell|allergy to peanuts|peanut allergy|peanut allergic reaction	http://purl.obolibrary.org/obo/MONDO_0005902	Allergic reaction to peanuts that is triggered by the immune system.	DOID:4378|SNOMEDCT:91935009|MESH:D021183|UMLS:C0559470
UBERON:0000117	respiratory tube	biolink:AnatomicalEntity	mondo			airway|segment of tracheobronchial tree|tracheobronchial tree segment|respiratory conducting tube|segment of tracheobronchial tree	http://purl.obolibrary.org/obo/UBERON_0000117	A tube in the respiratory system. Examples: bronchus, bronchiole, trachea.	
UBERON:0000118	lung bud	biolink:AnatomicalEntity	mondo			gemma pulmonalis|respiratory diverticulum|gemma respiratoria|lung bud|primary lung bud	http://purl.obolibrary.org/obo/UBERON_0000118	Structure derived from foregut that becomes a lung[GO].	
UBERON:0000119	cell layer	biolink:AnatomicalEntity	mondo			sheath of cells|cell sheath|layer of cells|layer	http://purl.obolibrary.org/obo/UBERON_0000119	Portion of tissue, that consists of single layer of cells connected to each other by cell junctions. Examples: layer of glial cells; epithelium.	
UBERON:0014765	crus of diaphragm	biolink:AnatomicalEntity	mondo			crus of the diaphragm|diaphragm crura|crura of the diaphragm|diaphragmatic crura|crural diaphragm	http://purl.obolibrary.org/obo/UBERON_0014765	The domain of the diaphragm that is located dorsally and attaches to the vertebrae and surrounds the esophagus and aorta.	
UBERON:0014766	right crus of diaphragm	biolink:AnatomicalEntity	mondo			crus dextrum diaphragmatis|crus dextrum (Diaphragma)|right crus of diaphragm|external sphincter of esophagus|right crus of lumbar part of diaphragm	http://purl.obolibrary.org/obo/UBERON_0014766	A crus of diaphragm that is in_the_right_side_of a diaphragm.	
UBERON:0014767	left crus of diaphragm	biolink:AnatomicalEntity	mondo			crus sinistrum diaphragmatis|left crus of lumbar part of diaphragm|left crus of diaphragm|crus sinistrum (Diaphragma)	http://purl.obolibrary.org/obo/UBERON_0014767	A crus of diaphragm that is in_the_left_side_of a diaphragm.	
HP:0031481	Abnormal mitral valve physiology	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0031481	Any functional anomaly of the mitral valve.	
UBERON:0012102	buccal salivary gland	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0012102	A salivary gland that is part of a cheek.	
HGNC:9449	PRNP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9449		
UBERON:0002786	root of abducens nerve	biolink:AnatomicalEntity	mondo			root of abducens nerve|central part of abducens nerve|fibrae nervi abducentis|abducens nerve root|abducens nerve/root|abducens nerve tract|abducens nerve fibers	http://purl.obolibrary.org/obo/UBERON_0002786	Nerve fibers arising from motor neurons in the abducens nucleus that are contained within the pontine tegmentum	
GO:0000902	cell morphogenesis	biolink:OntologyClass	mondo			cellular morphogenesis	http://purl.obolibrary.org/obo/GO_0000902	The developmental process in which the size or shape of a cell is generated and organized.	
UBERON:0000124	epineurium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0000124	A loose connective tissue sheath surrounding each peripheral nerve. Composed mainly of colagen and fibroblasts, it forms a substantial covering over nerve trunks, then thins to an incomplete layer around smaller branches near their terminations. The epineurium is continuous centrally with the dura. Peripherally, it usually ends near the termination of a nerve fiber, but it may continue as the capsule of Meissner corpuscles and a few other encapsulated endings. Nolte, J. The Human Brain 3rd edition	
GO:0000904	cell morphogenesis involved in differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0000904	The change in form (cell shape and size) that occurs when relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history.	
UBERON:0000125	neural nucleus	biolink:AnatomicalEntity	mondo			nervous system nucleus|nucleus of neuraxis|nucleus of CNS|nucleus|neuraxis nucleus|neuronal nucleus	http://purl.obolibrary.org/obo/UBERON_0000125	A spatially aggregated collection of nerve cell bodies in the CNS, consisting of one or more subpopulations that share cell type, chemical phenotype, and connections, and including nearby cells that share the same cell type, chemical phenotype, and connections. (CUMBO)	
UBERON:0000126	cranial nerve nucleus	biolink:AnatomicalEntity	mondo			nucleus nervi cranialis|cranial neural nucleus|nucleus of cranial nerve	http://purl.obolibrary.org/obo/UBERON_0000126	Nucleus that receives projections from or contains neurons that send projections through one of the cranial nerves	
UBERON:0002787	decussation of trochlear nerve	biolink:AnatomicalEntity	mondo			trochlear decussation|decussatio fibrarum nervorum trochlearium|decussation of the trochlear nerve|decussation of trochlear nerve fibers|trochlear nerve decussation|decussation of trochlear nerve (IV)|decussatio nervorum trochlearium|decussatio trochlearis|trochlear neural decussation	http://purl.obolibrary.org/obo/UBERON_0002787	the crossing of the two trochlear nerves at their exit through the velum medullare anterius.	
HGNC:9446	PRLR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9446		
UBERON:0000121	perineurium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0000121	A layer of thin, concentrically arranged cells with interspersed collagen that lies within the epineurium. (Nolte, J., The Human Brain 3rd edition)	
UBERON:0000122	neuron projection bundle	biolink:AnatomicalEntity	mondo			funiculus|nerve fiber bundle|neural fiber bundle	http://purl.obolibrary.org/obo/UBERON_0000122	A fasciculated bundle of neuron projections (GO:0043005), largely or completely lacking synapses.	
MONDO:0005912	phencyclidine abuse	biolink:Disease	mondo	EFO:0007436|SCTID:7071007|DOID:5062|MESH:D010623|ICD9:305.90		PCP abuse|phencyclidine abuse	http://purl.obolibrary.org/obo/MONDO_0005912	The misuse of phencyclidine with associated psychological symptoms and impairment in social or occupational functioning.	MESH:D010623|SNOMEDCT:7071007|DOID:5062
UBERON:0000109	gastrula stage	biolink:AnatomicalEntity	mondo			trilaminar blastocyst stage|trilaminar disk stage|trilaminar germ stage|blastocystis trilaminaris stage|trilaminar stage|trilaminar blastoderm stage	http://purl.obolibrary.org/obo/UBERON_0000109	A stage defined by complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm.	
MONDO:0005911	pharyngoconjunctival fever	biolink:Disease	mondo	DOID:13801|NCIT:C34924|ICD9:077.2|EFO:0007434|MESH:D000258|SCTID:70385007|UMLS:C0031351		pharyngoconjunctival fever|pharyngo-conjunctival fever|Adenoviral pharyngoconjunctivitis	http://purl.obolibrary.org/obo/MONDO_0005911	A condition characterized by fever, conjunctivitis, and pharyngitis resulting from infection by adenovirus.	NCIT:C34924|DOID:13801|UMLS:C0031351|SNOMEDCT:70385007|MESH:D000258
MONDO:0005914	Picornaviridae infectious disease	biolink:Disease	mondo	EFO:0007438|UMLS:C0031887|MESH:D010850		Picornaviridae infection|infections, Picornaviridae	http://purl.obolibrary.org/obo/MONDO_0005914	Virus diseases caused by the picornaviridae.	MESH:D010850|UMLS:C0031887
MONDO:0005913	phlebotomus fever	biolink:Disease	mondo	ICD10:A93.1|EFO:0007437|UMLS:C0030372|MESH:D010217|DOID:11360|ICD9:066.0|SCTID:407476002		pappataci fever|Sandfly-borne phleboviral disease|Sandfly fever|Sandfly-borne Bunyavirus fever|Sandfly-borne arboviral fever	http://purl.obolibrary.org/obo/MONDO_0005913	Influenza-like febrile viral disease caused by several members of the bunyaviridae family and transmitted mostly by the bloodsucking sandfly Phlebotomus papatasii.	MESH:D010217|DOID:11360|SNOMEDCT:407476002|UMLS:C0030372
UBERON:0000105	life cycle stage	biolink:AnatomicalEntity	mondo			stage|developmental stage	http://purl.obolibrary.org/obo/UBERON_0000105	A spatiotemporal region encompassing some part of the life cycle of an organism.	
UBERON:0000106	zygote stage	biolink:AnatomicalEntity	mondo			zygote|fertilized egg stage|one-cell stage|zygotum|1-cell stage|one cell stage|fertilized egg stage	http://purl.obolibrary.org/obo/UBERON_0000106	A stage at which the organism is a single cell produced by means of sexual reproduction.	
MONDO:0005910	phagocyte bactericidal dysfunction	biolink:Disease	mondo	MESH:D010585|UMLS:C0031306|EFO:0007433|DOID:3262		phagocytic dysfunction	http://purl.obolibrary.org/obo/MONDO_0005910	Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas.	DOID:3262|MESH:D010585|UMLS:C0031306
NCBITaxon:58262	Culicoidini	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_58262		
UBERON:0000107	cleavage stage	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0000107	The first few specialized divisions of an activated animal egg; Stage consisting of division of cells in the early embryo. The zygotes of many species undergo rapid cell cycles with no significant growth, producing a cluster of cells the same size as the original zygote. The different cells derived from cleavage are called blastomeres and form a compact mass called the morula. Cleavage ends with the formation of the blastula.	
UBERON:0000108	blastula stage	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0000108	An early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence.	
CHEBI:50949	serotonin uptake inhibitor	biolink:ChemicalSubstance	mondo			SSRI|serotonin reuptake inhibitor	http://purl.obolibrary.org/obo/CHEBI_50949	A compound that specifically inhibits the reuptake of serotonin in the brain. This increases the serotonin concentration in the synaptic cleft which then activates serotonin receptors to a greater extent.	
CHEBI:23341	cobamides	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_23341		
UBERON:0000112	sexually immature stage	biolink:AnatomicalEntity	mondo			immature stage|subadult stage|juvenile stage	http://purl.obolibrary.org/obo/UBERON_0000112		
MONDO:0005909	pestivirus infectious disease	biolink:Disease	mondo	MESH:D018182|UMLS:C0206611|EFO:0007432		Pestivirus disease or disorder|infection, Pestivirus|infections, Pestivirus|Pestivirus infection|Pestivirus infectious disease|Pestivirus caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005909	Infections with viruses of the genus pestivirus, family flaviviridae.	UMLS:C0206611|MESH:D018182
MONDO:0005908	peste des petits ruminants infectious disease	biolink:Disease	mondo	EFO:0007431|UMLS:C0949885|MESH:D029021		Peste des petits ruminants|Pseudorinderpest|Small ruminant morbillivirus infectious disease|Small ruminant morbillivirus caused disease or disorder|Small ruminant morbillivirus disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005908	A highly fatal contagious disease of goats and sheep caused by peste-des-petits-ruminants virus. The disease may be acute or subacute and is characterized by stomatitis, conjunctivitis, diarrhea, and pneumonia.	UMLS:C0949885|MESH:D029021
UBERON:0000113	post-juvenile adult stage	biolink:AnatomicalEntity	mondo			adult stage	http://purl.obolibrary.org/obo/UBERON_0000113	The stage of being a sexually mature adult animal.	
HGNC:9453	PRODH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9453		
UBERON:0000114	lung connective tissue	biolink:AnatomicalEntity	mondo			pulmonary interstitial tissue|lung interstitial tissue|pulmonary interstitium|pulmonary connective tissue|lung interstitium|connective tissue of lung	http://purl.obolibrary.org/obo/UBERON_0000114	the connective tissue located between the respiratory (airway and alveolar) epithelium, the capillary endothelium and pleural mesothelium; it contains basement membrane composed of collagen, elastin, proteoglycans, and fibronectin	
UBERON:0000115	lung epithelium	biolink:AnatomicalEntity	mondo			pulmonary epithelium|lung epithelial tissue|epithelial tissue of lung|epithelium of lung	http://purl.obolibrary.org/obo/UBERON_0000115	The epithelial layer of the lung.	
HGNC:9451	PROC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9451		
HGNC:9456	PROS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9456		
MONDO:0005905	periodic limb movement disorder	biolink:Disease	mondo	EFO:0007428|ICD9:327.51|ICD10:G47.61|SCTID:418763003|UMLS:C0751774|DOID:9207		nocturnal myoclonus	http://purl.obolibrary.org/obo/MONDO_0005905	Excessive periodic leg movements during sleep that cause micro-arousals and interfere with the maintenance of sleep. This condition induces a state of relative sleep deprivation which manifests as excessive daytime hypersomnolence. The movements are characterized by repetitive contractions of the tibialis anterior muscle, extension of the toe, and intermittent flexion of the hip, knee and ankle. (Adams et al., Principles of Neurology, 6th ed, p387)	SNOMEDCT:418763003|UMLS:C0751774|DOID:9207
MONDO:0005904	pericarditis (disease)	biolink:Disease	mondo	EFO:0007427|UMLS:C0031046|HP:0001701|DOID:1787|SCTID:3238004|NCIT:C34915|MESH:D010493		inflammation of pericardium|pericarditis|pericardium inflammation	http://purl.obolibrary.org/obo/MONDO_0005904	An inflammatory process affecting the pericardium.	SNOMEDCT:3238004|NCIT:C34915|MESH:D010493|DOID:1787|UMLS:C0031046
HGNC:9457	PLPBP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9457		
MONDO:0005907	persian gulf syndrome	biolink:Disease	mondo	DOID:4491|UMLS:C0282550|ICD9:300.89|MESH:D018923|SCTID:95877004|EFO:0007430		Gulf war syndrome	http://purl.obolibrary.org/obo/MONDO_0005907	Unexplained symptoms reported by veterans of the Persian Gulf War with Iraq in 1991. The symptoms reported include fatigue, skin rash, muscle and joint pain, headaches, loss of memory, shortness of breath, gastrointestinal and respiratory symptoms, and extreme sensitivity to commonly occurring chemicals. (Nature 1994 May 5;369(6475):8)	UMLS:C0282550|DOID:4491|SNOMEDCT:95877004|MESH:D018923
HGNC:9454	PROM1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9454		
UBERON:0000110	neurula stage	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0000110	Staged defined by the formation of a tube from the flat layer of ectodermal cells known as the neural plate. This will give rise to the central nervous system.	
MONDO:0005906	peritonsillar abscess	biolink:Disease	mondo	EFO:0007429|UMLS:C0031157|MESH:D000039|COHD:440751|NCIT:C128322|SCTID:15033003|ICD9:475|ICD10:J36		quinsy	http://purl.obolibrary.org/obo/MONDO_0005906	An abscess that develops in the space surrounding one or both palatine tonsils.	MESH:D000039|NCIT:C128322|SNOMEDCT:15033003|UMLS:C0031157
UBERON:0002772	olfactory sulcus	biolink:AnatomicalEntity	mondo			olfactory groove|sulcus olfactorius|sulcus olfactorius lobi frontalis|OLFS	http://purl.obolibrary.org/obo/UBERON_0002772	The medial orbital gyrus presents a well-marked antero-posterior sulcus, the olfactory sulcus, for the olfactory tract. [WP,unvetted].	
UBERON:0000111	organogenesis stage	biolink:AnatomicalEntity	mondo			segmentation stage	http://purl.obolibrary.org/obo/UBERON_0000111	A stage at which the ectoderm, endoderm, and mesoderm develop into the internal organs of the organism.	
HGNC:9455	PROP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9455		
ECTO:0000689	P450 inhibitor exposure	biolink:OntologyClass	mondo			exposure to P450 inhibitor	http://purl.obolibrary.org/obo/ECTO_0000689	An exposure to P450 inhibitor.	
GO:0034311	diol metabolic process	biolink:OntologyClass	mondo			dihydric alcohol metabolic process|diol metabolism	http://purl.obolibrary.org/obo/GO_0034311	The chemical reactions and pathways involving a diol, a compound that contains two hydroxy groups, generally assumed to be, but not necessarily, alcoholic.	
HGNC:30587	SNIP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30587		
ECTO:0000699	probe exposure	biolink:OntologyClass	mondo			exposure to probe	http://purl.obolibrary.org/obo/ECTO_0000699	An exposure to probe.	
GO:0034308	primary alcohol metabolic process	biolink:OntologyClass	mondo			monohydric alcohol metabolic process|primary alcohol metabolism	http://purl.obolibrary.org/obo/GO_0034308	The chemical reactions and pathways involving primary alcohols. A primary alcohol is any alcohol in which a hydroxy group, -OH, is attached to a saturated carbon atom which has either three hydrogen atoms attached to it or only one other carbon atom and two hydrogen atoms attached to it.	
GO:0034309	primary alcohol biosynthetic process	biolink:OntologyClass	mondo			primary alcohol synthesis|monohydric alcohol biosynthetic process|primary alcohol formation|primary alcohol biosynthesis|primary alcohol anabolism	http://purl.obolibrary.org/obo/GO_0034309	The chemical reactions and pathways resulting in the formation of primary alcohols. A primary alcohol is any alcohol in which a hydroxy group, -OH, is attached to a saturated carbon atom which has either three hydrogen atoms attached to it or only one other carbon atom and two hydrogen atoms attached to it.	
HGNC:29597	IRGM	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29597		
HGNC:29594	UQCRQ	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29594		
HGNC:30578	EXPH5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30578		
HGNC:17582	KAT6B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17582		
HGNC:29569	LIPT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29569		
UBERON:0014701	extraembryonic vascular system	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0014701	A vascular system that overlaps a umbilical cord and is part of a entire extraembryonic component.	
HGNC:29561	ARV1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29561		
GO:0010324	membrane invagination	biolink:OntologyClass	mondo			single-organism membrane invagination	http://purl.obolibrary.org/obo/GO_0010324	The infolding of a membrane.	
UBERON:0002722	trochlear nucleus	biolink:AnatomicalEntity	mondo			trochlear motor nucleus|nucleus nervi trochlearis|motor nucleus IV|trochlear IV nucleus|fourth cranial nerve nucleus|nucleus of trochlear nerve|nucleus nervi trochlearis|nIV	http://purl.obolibrary.org/obo/UBERON_0002722	Nucleus in the midbrain at the level of the inferior colliculus near the midline, containing the motor neurons giving rise to the trochlear nerve, innervating the contralateral superior oblique extraocular muscle of the eye (Brodal, Neurological Anatomy, 3rd ed, 1981, pg. 533).	
ECTO:0000672	agonist exposure	biolink:OntologyClass	mondo			exposure to agonist	http://purl.obolibrary.org/obo/ECTO_0000672	An exposure to agonist.	
HGNC:30546	FDX2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30546		
ECTO:0010003	exposure to physical object quality	biolink:OntologyClass	mondo			physical object quality exposure	http://purl.obolibrary.org/obo/ECTO_0010003	A exposure event involving the interaction of an exposure receptor to physical object quality.	
ECTO:0010001	exposure to qualitative	biolink:OntologyClass	mondo			qualitative exposure	http://purl.obolibrary.org/obo/ECTO_0010001	A exposure event involving the interaction of an exposure receptor to qualitative.	
ECTO:0010000	exposure to quality	biolink:OntologyClass	mondo			quality exposure	http://purl.obolibrary.org/obo/ECTO_0010000	A exposure event involving the interaction of an exposure receptor to quality.	
UBERON_CORE:layer_part_of	layer part of	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/uberon/core#layer_part_of		
HGNC:30551	TXNL4A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30551		
HGNC:30539	DNAAF1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30539		
OBO:mondo#disease_has_major_feature	disease has major feature	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/mondo#disease_has_major_feature		
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	biolink:OntologyClass	mondo			RNA polymerase II transcription factor activity, sequence-specific transcription regulatory region DNA binding|transcription factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding|transcription factor|transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity|sequence-specific distal enhancer binding RNA polymerase II transcription factor activity|metal ion regulated sequence-specific DNA binding RNA polymerase II transcription factor activity|RNA polymerase II transcription factor activity, metal ion regulated proximal promoter sequence-specific DNA binding|copper ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity|RNA polymerase II transcription factor activity, metal ion regulated core promoter proximal region sequence-specific binding|RNA polymerase II transcription factor activity, zinc ion regulated core promoter proximal region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|RNA polymerase II transcription factor activity, copper ion regulated proximal promoter sequence-specific DNA binding|metal ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity|RNA polymerase II transcription factor activity, copper ion regulated core promoter proximal region sequence-specific binding|zinc ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity|RNA polymerase II transcription factor activity, zinc ion regulated proximal promoter sequence-specific DNA binding|RNA polymerase II transcription factor activity, metal ion regulated sequence-specific DNA binding|transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity|RNA polymerase II transcription factor activity, sequence-specific DNA binding	http://purl.obolibrary.org/obo/GO_0000981	A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.	
GO:0009311	oligosaccharide metabolic process	biolink:OntologyClass	mondo			oligosaccharide metabolism|multicellular organismal oligosaccharide metabolic process	http://purl.obolibrary.org/obo/GO_0009311	The chemical reactions and pathways involving oligosaccharides, molecules with between two and (about) 20 monosaccharide residues connected by glycosidic linkages.	
GO:0009314	response to radiation	biolink:OntologyClass	mondo			response to radiation stimulus|response to electromagnetic radiation stimulus	http://purl.obolibrary.org/obo/GO_0009314	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an electromagnetic radiation stimulus. Electromagnetic radiation is a propagating wave in space with electric and magnetic components. These components oscillate at right angles to each other and to the direction of propagation.	
HP:0006476	Abnormality of the pancreatic islet cells	biolink:PhenotypicFeature	mondo	UMLS:C4025043			http://purl.obolibrary.org/obo/HP_0006476	An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin.	
ECTO:0000650	Bronsted acid exposure	biolink:OntologyClass	mondo			exposure to Bronsted acid	http://purl.obolibrary.org/obo/ECTO_0000650	An exposure to Bronsted acid.	
HP:0031409	Abnormal lymphocyte physiology	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0031409	Any anomaly of lymphocyte function.	
GO:0000988	obsolete transcription factor activity, protein binding	biolink:OntologyClass	mondo			protein binding transcription factor activity|transcription factor activity	http://purl.obolibrary.org/obo/GO_0000988	OBSOLETE. Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules), in order to modulate transcription. A protein binding transcription factor may or may not also interact with the template nucleic acid (either DNA or RNA) as well.	
HGNC:30528	DNAJC19	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30528		
ECTO:0000657	disinfectant exposure	biolink:OntologyClass	mondo			exposure to disinfectant	http://purl.obolibrary.org/obo/ECTO_0000657	An exposure to disinfectant.	
HGNC:29557	NEXN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29557		
HP:0006487	Bowing of the long bones	biolink:PhenotypicFeature	mondo	UMLS:C1855340		Diaphyseal bowing|Bowing of long bones|Bowing of the long bones|Camptomelia|Diaphyseal bowing of long bones|Bowed long bones	http://purl.obolibrary.org/obo/HP_0006487	A bending or abnormal curvature of a long bone.	
HP:0006483	Abnormal number of teeth	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:335443002|UMLS:C1290508		Abnormal number of teeth|Abnormal complement of teeth|Abnormal tooth count	http://purl.obolibrary.org/obo/HP_0006483	The presence of an altered number of of teeth.	
MONDO:0003388	ampulla of vater clear cell adenocarcinoma	biolink:Disease	mondo	UMLS:C1332246|DOID:5308|NCIT:C27414		hepatopancreatic ampulla clear cell adenocarcinoma|ampulla of Vater clear cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003388	A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of glycogen-rich cells with hyperchromatic nuclei.	NCIT:C27414|UMLS:C1332246|DOID:5308
GO:1900118	negative regulation of execution phase of apoptosis	biolink:OntologyClass	mondo			downregulation of execution phase of apoptosis|down regulation of execution phase of apoptosis|inhibition of execution phase of apoptosis|down-regulation of execution phase of apoptosis	http://purl.obolibrary.org/obo/GO_1900118	Any process that stops, prevents or reduces the frequency, rate or extent of execution phase of apoptosis.	
MONDO:0003389	epithelial-myoepithelial carcinoma	biolink:Disease	mondo	GARD:0006364|ONCOTREE:EMYOCA|DOID:5309|UMLS:C0334392|ICDO:8562/3|NCIT:C4199		epithelial-myoepithelial carcinoma|EMYOCA	http://purl.obolibrary.org/obo/MONDO_0003389	A malignant neoplasm which occurs mostly in the major salivary glands (most frequently in the parotid gland), but also in the minor salivary glands of the oral mucosa and the tracheobronchial tree. It is characterized by the presence of ductal structures which are lined by an inner layer of cuboidal epithelial-type cells and an outer layer of myoepithelial cells with clear or eosinophilic cytoplasm.	NCIT:C4199|UMLS:C0334392|DOID:5309
GO:1900117	regulation of execution phase of apoptosis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1900117	Any process that modulates the frequency, rate or extent of execution phase of apoptosis.	
GO:1900119	positive regulation of execution phase of apoptosis	biolink:OntologyClass	mondo			up regulation of execution phase of apoptosis|up-regulation of execution phase of apoptosis|activation of execution phase of apoptosis|upregulation of execution phase of apoptosis	http://purl.obolibrary.org/obo/GO_1900119	Any process that activates or increases the frequency, rate or extent of execution phase of apoptosis.	
HGNC:29643	MLPH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29643		
MONDO:0003384	uterine ligament clear cell adenocarcinoma	biolink:Disease	mondo	NCIT:C40139|UMLS:C1519867|DOID:5302		uterine ligament clear cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003384	A clear cell adenocarcinoma of the uterine ligament composed mainly of clear or hobnob cells. The clear cells are large, bizarre, and multinucleated.	NCIT:C40139|DOID:5302|UMLS:C1519867
MONDO:0003385	obsolete cervical clear cell adenocarcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003385		
GO:1900116	extracellular negative regulation of signal transduction	biolink:OntologyClass	mondo			down-regulation of signal transduction in extracellular region|negative regulation of signaling pathway in extracellular region|negative regulation of signalling pathway in extracellular region|down regulation of signal transduction in extracellular region|extracellular inhibition of signaling pathway|inhibition of signal transduction in extracellular region|downregulation of signal transduction in extracellular region	http://purl.obolibrary.org/obo/GO_1900116	Any negative regulation of signal transduction that takes place in extracellular region.	
MONDO:0003386	bladder clear cell adenocarcinoma	biolink:Disease	mondo	NCIT:C6179|DOID:5306|UMLS:C1332557		bladder clear cell adenocarcinoma|urinary bladder clear cell adenocarcinoma|clear cell adenocarcinoma of the urinary bladder|clear cell adenocarcinoma of urinary bladder|clear cell adenocarcinoma of the bladder|clear cell adenocarcinoma of bladder|bladder mesonephric adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003386	A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells distributed in a tubulo-cystic, papillary, or diffuse pattern. There is a female predilection. Clinical presentation includes hematuria and dysuria.	DOID:5306|UMLS:C1332557|NCIT:C6179
MONDO:0003387	urethra clear cell adenocarcinoma	biolink:Disease	mondo	DOID:5307|NCIT:C6172|UMLS:C1336886		urethral clear cell adenocarcinoma|clear cell adenocarcinoma of the urethra|clear cell adenocarcinoma of urethra|urethra clear cell adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003387	A morphologic variant of urethral adenocarcinoma characterized by the presence of tubulocystic or papillary structures lined with clear cuboidal or hobnail cells.	UMLS:C1336886|DOID:5307|NCIT:C6172
GO:1900115	extracellular regulation of signal transduction	biolink:OntologyClass	mondo			regulation of signaling pathway in extracellular region|regulation of signalling pathway in extracellular region	http://purl.obolibrary.org/obo/GO_1900115	Any regulation of signal transduction that takes place in the extracellular region.	
MONDO:0003380	obsolete endometrial clear cell adenocarcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003380		
MONDO:0003381	pituitary gland disease	biolink:Disease	mondo	ICD9:253.1|NCIT:C26854|SCTID:399244003|COHD:23986|DOID:53|MESH:D010900|ICD9:253.9|ICD9:253.8		disorder of pituitary gland|disease or disorder of pituitary gland|pituitary gland disorder|pituitary gland disease|pituitary disease|disease of pituitary gland|pituitary gland disease or disorder|disorder of pituitary gland	http://purl.obolibrary.org/obo/MONDO_0003381	A disease involving the pituitary gland.	DOID:53|NCIT:C26854|SNOMEDCT:399244003|MESH:D010900
MONDO:0003382	eyelid disease	biolink:Disease	mondo	ICD9:374.9|ICD10:H02.9|MESH:D005141|DOID:530|ICD9:374.89|NCIT:C26768|ICD10:H00|SCTID:60113004		disorder of eyelid|disease of eyelid|disease or disorder of eyelid|eyelid disease|eyelid disorder|eyelid disease or disorder|disorder of eyelid	http://purl.obolibrary.org/obo/MONDO_0003382	A disease involving the eyelid.	NCIT:C26768|DOID:530|SNOMEDCT:60113004|MESH:D005141
MONDO:0027353	autosomal recessive dyskeratosis congenita 4	biolink:Disease	mondo	DOID:0070021		DKCB4	http://purl.obolibrary.org/obo/MONDO_0027353	A dyskeratosis congenita that has material basis in an autosomal recessive mutation of TERT on chromosome 5p15.33.	DOID:0070021
MONDO:0003383	fallopian tube clear cell adenocarcinoma	biolink:Disease	mondo	UMLS:C1333591|DOID:5301|NCIT:C6280		clear cell carcinoma of the fallopian tube|clear cell adenocarcinoma of fallopian tube|fallopian tube clear cell carcinoma|clear cell adenocarcinoma of the fallopian tube|fallopian tube clear cell adenocarcinoma|clear cell carcinoma of fallopian tube	http://purl.obolibrary.org/obo/MONDO_0003383	A rare adenocarcinoma of the fallopian tube composed of malignant glandular epithelium containing clear cells.	UMLS:C1333591|DOID:5301|NCIT:C6280
MONDO:0015379	cervical dermoid cyst	biolink:Disease	mondo	ICD10:Q18.8|Orphanet:141046|SCTID:763129001	ordo_morphological_anomaly	dermoid cyst of the neck	http://purl.obolibrary.org/obo/MONDO_0015379	Cervical dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue which usually manifests as a slow-growing, painless mass in the submandibular or sublingual space. Depending on the location, and especially after sudden enlargement, it can cause dyspnea, dysphagia or dysphonia.	SNOMEDCT:763129001|ORPHA:141046
MONDO:0015378	fourth branchial cleft anomaly	biolink:Disease	mondo	SCTID:707234001|ICD10:Q18.0|Orphanet:141037	ordo_morphological_anomaly	fourth branchial cleft cyst|fourth branchial cleft fistula	http://purl.obolibrary.org/obo/MONDO_0015378		SNOMEDCT:707234001|ORPHA:141037
MONDO:0015373	obsolete Saldino-Mainzer syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015373		
MONDO:0015372	autosomal dominant macrothrombocytopenia	biolink:Disease	mondo	SCTID:720521008|ICD10:D69.4|UMLS:CN199474|UMLS:C4304021|Orphanet:140957	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015372	This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets.	SNOMEDCT:720521008|UMLS:C4304021|ORPHA:140957|UMLS:CN199474
MONDO:0015371	linear atrophoderma of Moulin	biolink:Disease	mondo	ICD10:L90.8|UMLS:C1274753|SCTID:403395007|Orphanet:140933	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015371	Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Since its initial description in 1992, less than 30 cases have been reported in the literature. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The aetiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene.	UMLS:C1274753|ORPHA:140933|SNOMEDCT:403395007
MONDO:0015370		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015370		
MONDO:0015377	third branchial cleft anomaly	biolink:Disease	mondo	ICD10:Q18.0|SCTID:73391000119102|Orphanet:141030	ordo_morphological_anomaly	third branchial cleft fistula|third branchial cleft cyst	http://purl.obolibrary.org/obo/MONDO_0015377		ORPHA:141030|SNOMEDCT:73391000119102
MONDO:0015376	first branchial cleft anomaly	biolink:Disease	mondo	Orphanet:141013|SCTID:73371000119103|ICD10:Q18.0	ordo_morphological_anomaly	first branchial cleft cyst|first branchial cleft fistula	http://purl.obolibrary.org/obo/MONDO_0015376		ORPHA:141013|SNOMEDCT:73371000119103
MONDO:0015375	orofaciodigital syndrome	biolink:Disease	mondo	ICD9:759.89|MESH:D009958|Orphanet:140997|DOID:4501|OMIMPS:311200|SCTID:52868006|GARD:0010692|ICD10:Q87.0	ordo_group_of_disorders	orofaciodigital syndrome|orofaciodigital syndromes|OFD|oral-facial-digital syndromes|oral facial digital syndromes|oral-facial-digital syndrome	http://purl.obolibrary.org/obo/MONDO_0015375	Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.	SNOMEDCT:52868006|UMLS:C0029294|ORPHA:140997|MESH:D009958|DOID:4501
MONDO:0015374	primary central nervous system vasculitis	biolink:Disease	mondo	MESH:C537295|GARD:0008703|Orphanet:140989|ICD10:I67.7	ordo_disease|gard_rare	PCNSV|primary vasculitis of the central nervous system|primary CNS vasculitis|primary angiitis of the central nervous system|granulomatous angiitis of the central nervous system|primary central nervous system vasculitis|isolated angiitis of the central nervous system|PACNS	http://purl.obolibrary.org/obo/MONDO_0015374		MESH:D020293|UMLS:C2930862|MESH:C537295|ORPHA:140989|MESH:C535276|UMLS:C0751881
SO:1000002	substitution	biolink:SequenceFeature	mondo				http://purl.obolibrary.org/obo/SO_1000002	A sequence alteration where the length of the change in the variant is the same as that of the reference.	
MONDO:0003399	pineal region yolk sac tumor	biolink:Disease	mondo	DOID:5341|NCIT:C6752|UMLS:C1335420		pineal region yolk Sac neoplasm|pineal endodermal sinus neoplasm|endodermal sinus tumor of the pineal region|pineal body yolk sac tumor|endodermal sinus tumor of pineal region|pineal region endodermal sinus neoplasm|yolk Sac tumor of the pineal region|yolk Sac tumor of pineal region|pineal region endodermal sinus tumor|pineal region yolk sac tumor|pineal endodermal sinus tumor	http://purl.obolibrary.org/obo/MONDO_0003399	A yolk sac tumor that involves the pineal body.	NCIT:C6752|UMLS:C1335420|DOID:5341
SO:1000008	point_mutation	biolink:SequenceFeature	mondo			point mutation	http://purl.obolibrary.org/obo/SO_1000008	A single nucleotide change which has occurred at the same position of a corresponding nucleotide in a reference sequence.	
HGNC:29659	MESP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29659		
MONDO:0003395	testicular granulosa cell tumor	biolink:Disease	mondo	EFO:1000567|NCIT:C6357|UMLS:C1336709|DOID:5331		granulosa cell neoplasm of testis|testicular granulosa cell neoplasm|granulosa cell neoplasm of the testis|granulosa cell tumor of the testis|testis granulosa cell tumor|granulosa cell tumor of testis|testicular granulosa cell tumor	http://purl.obolibrary.org/obo/MONDO_0003395	A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile.	UMLS:C1336709|DOID:5331|NCIT:C6357
NCBITaxon:12967	Blastocystis	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_12967		
MONDO:0003396	epulis	biolink:Disease	mondo	DOID:5337|NCIT:C3948|ICD9:523.8|UMLS:C0266919|SCTID:45676007		epulides|gum polyp|polyp of the gum|gingiva polyp|polyp of gum|gingival polyp|polyp of the gingiva|polyp of gingiva	http://purl.obolibrary.org/obo/MONDO_0003396	A non-neoplastic nodular lesion that arises from the gingiva.	NCIT:C3948|DOID:5337|UMLS:C0266919|SNOMEDCT:45676007
MONDO:0003397	gingival hypertrophy	biolink:Disease	mondo	UMLS:C0017567|MESH:D005886|DOID:5338		hypertrophy of gingivae	http://purl.obolibrary.org/obo/MONDO_0003397	Abnormal enlargement or overgrowth of the gingivae brought about by enlargement of existing cells.	MESH:D005886|UMLS:C0017567|DOID:5338
MONDO:0003398	anterograde amnesia	biolink:Disease	mondo	ICD10:R41.1|DOID:5340|MESH:D020324			http://purl.obolibrary.org/obo/MONDO_0003398	Loss of the ability to form new memories beyond a certain point in time. This condition may be organic or psychogenic in origin. Organically induced anterograde amnesia may follow craniocerebral trauma; seizures; anoxia; and other conditions which adversely affect neural structures associated with memory formation (e.g., the hippocampus; fornix (brain); mammillary bodies; and anterior thalamic nuclei). (From Memory 1997 Jan-Mar;5(1-2):49-71)	MESH:D020324|DOID:5340
MONDO:0003391	vulvar alveolar soft part sarcoma	biolink:Disease	mondo	DOID:5313|NCIT:C40320|UMLS:C1520069			http://purl.obolibrary.org/obo/MONDO_0003391	An alveolar soft part sarcoma arising from the vulva.	NCIT:C40320|DOID:5313|UMLS:C1520069
GO:1900121	negative regulation of receptor binding	biolink:OntologyClass	mondo			downregulation of receptor binding|down regulation of receptor-associated protein activity|down regulation of receptor binding|inhibition of receptor binding|down-regulation of receptor binding|inhibition of receptor ligand	http://purl.obolibrary.org/obo/GO_1900121	Any process that stops, prevents or reduces the frequency, rate or extent of a protein or other molecule binding to a receptor.	
MONDO:0003392	fallopian tube germ cell tumor	biolink:Disease	mondo	NCIT:C40130|UMLS:C1517114|DOID:5324		fallopian tube germ cell cancer|fallopian tube germ cell tumor|fallopian tube germ cell neoplasm	http://purl.obolibrary.org/obo/MONDO_0003392	A rare germ cell tumor that affects the fallopian tube. The vast majority of cases are teratomas.	NCIT:C40130|DOID:5324|UMLS:C1517114
GO:1900120	regulation of receptor binding	biolink:OntologyClass	mondo			regulation of receptor ligand	http://purl.obolibrary.org/obo/GO_1900120	Any process that modulates the frequency, rate or extent of a protein or other molecule binding to a receptor.	
MONDO:0003393	thymus gland disease	biolink:Disease	mondo	ICD9:254|ICD10:E32|NCIT:C26962|ICD9:254.9|UMLS:C0154199|ICD10:E32.9|DOID:533|SCTID:20673009		thymus disease|thymus disorder|Thymus disorder|disorder of thymus gland|disease of thymus gland|thymus disease or disorder|disorder of thymus|disease of thymus|disease or disorder of thymus|disorder of thymus	http://purl.obolibrary.org/obo/MONDO_0003393	A non-neoplastic or neoplastic disorder that affects the thymus. Representative examples include thymic hyperplasia, thymoma, and thymic carcinoma.	NCIT:C26962|SNOMEDCT:20673009|DOID:533|UMLS:C0154199
GO:1900122	positive regulation of receptor binding	biolink:OntologyClass	mondo			up regulation of receptor binding|activation of receptor binding|upregulation of receptor binding	http://purl.obolibrary.org/obo/GO_1900122	Any process that activates or increases the frequency, rate or extent of a protein or other molecule binding to a receptor.	
MONDO:0003394	dental pulp disease	biolink:Disease	mondo	SCTID:57203004|MESH:D003788|NCIT:C34530|ICD9:522.9|UMLS:C0011405|DOID:5330		disorder of dental pulp|dental pulp disease|disease or disorder of dental pulp|pulp disorder|disease of dental pulp|disorder of pulp of tooth|dental pulp disease or disorder|dental pulp disorder|disorder of dental pulp	http://purl.obolibrary.org/obo/MONDO_0003394	A disease involving the dental pulp.	MESH:D003788|DOID:5330|NCIT:C34530|UMLS:C0011405|SNOMEDCT:57203004
MONDO:0015369	Joubert syndrome and related disorders	biolink:Disease	mondo	Orphanet:140874|UMLS:CN199461	ordo_group_of_disorders	JSRD	http://purl.obolibrary.org/obo/MONDO_0015369	Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.	UMLS:CN199461|ORPHA:140874
MONDO:0015368	neuro-ophthalmological disease	biolink:Disease	mondo	UMLS:CN199459|Orphanet:140653	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015368		UMLS:CN199459|ORPHA:140653
GO:1900130	regulation of lipid binding	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1900130	Any process that modulates the frequency, rate or extent of lipid binding.	
MONDO:0003390	glycogen-rich clear cell breast carcinoma	biolink:Disease	mondo	ICDO:8315/3|NCIT:C40368|DOID:5310|UMLS:C0334319		glycogen-rich carcinoma|glycogen-rich carcinoma (morphologic abnormality)|Glycogen-rich, clear cell breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0003390	An uncommon, usually aggressive adenocarcinoma of the breast characterized by the presence of clear cells that contain glycogen.	NCIT:C40368|DOID:5310|UMLS:C0334319
MONDO:0015367	Charlie M syndrome	biolink:Disease	mondo	SCTID:733034007|GARD:0001261|Orphanet:1406|UMLS:CN199458|UMLS:C4518555|ICD10:Q87.0	gard_rare|ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0015367	Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis. The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976.	UMLS:CN199458|UMLS:C4518555|ORPHA:1406|SNOMEDCT:733034007
MONDO:0015362	autosomal dominant distal hereditary motor neuropathy	biolink:Disease	mondo	ICD10:G12.1|DOID:0111198|UMLS:CN228930|Orphanet:140465	ordo_group_of_disorders	distal hereditary motor neuropathy, autosomal dominant|autosomal dominant distal hereditary motor neuropathy|autosomal dominant distal spinal muscular atrophy|autosomal dominant dHMN	http://purl.obolibrary.org/obo/MONDO_0015362	Autosomal dominant form of distal hereditary motor neuropathy.	UMLS:CN228930|ORPHA:140465|DOID:0111198
MONDO:0015361	autosomal recessive hereditary demyelinating motor and sensory neuropathy	biolink:Disease	mondo	Orphanet:140459|UMLS:CN228928|ICD10:G60.0	ordo_group_of_disorders	AR demyelinating HMSN	http://purl.obolibrary.org/obo/MONDO_0015361		UMLS:CN228928|ORPHA:140459
MONDO:0015360	autosomal dominant hereditary axonal motor and sensory neuropathy	biolink:Disease	mondo	UMLS:CN228927|Orphanet:140456|ICD10:G60.0	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015360		UMLS:CN228927|ORPHA:140456
MONDO:0015366	autosomal recessive hereditary sensory and autonomic neuropathy	biolink:Disease	mondo	ICD10:G60.8|Orphanet:140477|UMLS:CN228933	ordo_group_of_disorders	hereditary sensory and autonomic neuropathy, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0015366	Autosomal recessive form of hereditary sensory and autonomic neuropathy.	UMLS:CN228933|ORPHA:140477
MONDO:0015365	autosomal dominant hereditary sensory and autonomic neuropathy	biolink:Disease	mondo	ICD10:G60.8|Orphanet:140474|UMLS:CN228932	ordo_group_of_disorders	hereditary sensory and autonomic neuropathy, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0015365	Autosomal dominant form of hereditary sensory and autonomic neuropathy.	UMLS:CN228932|ORPHA:140474
MONDO:0015364	hereditary sensory and autonomic neuropathy	biolink:Disease	mondo	UMLS:C0027889|SCTID:11442006|GARD:0012688|DOID:0050548|COHD:380398|DC:0000323|MESH:D009477|NCIT:C125386|OMIMPS:162400|Orphanet:140471|ICD10:G60.8|ICD9:356.2	ordo_group_of_disorders	CIP|congenital pain insensitivity|congenital insensitivity to pain|HSAN|hereditary sensory peripheral neuropathy|indifference to pain, Congenital, autosomal recessive|hereditary sensory and autonomic neuropathy|hereditary sensory autonomic neuropathy|indifference to pain, Congenital, autosomal recessive|hereditary sensory neuropathy	http://purl.obolibrary.org/obo/MONDO_0015364	An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome.	NCIT:C125386|SNOMEDCT:11442006|ORPHA:140471|UMLS:C0027889|MESH:D009477|DOID:0050548
GO:0034284	response to monosaccharide	biolink:OntologyClass	mondo			response to monosaccharide stimulus	http://purl.obolibrary.org/obo/GO_0034284	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus.	
MONDO:0015363	autosomal recessive distal hereditary motor neuropathy	biolink:Disease	mondo	Orphanet:140468|ICD10:G12.2|DOID:0111197|UMLS:CN228931	ordo_group_of_disorders	autosomal recessive distal spinal muscular atrophy|autosomal recessive dHMN|distal hereditary motor neuropathy, autosomal recessive|autosomal recessive dSMA	http://purl.obolibrary.org/obo/MONDO_0015363	Autosomal recessive form of distal hereditary motor neuropathy.	UMLS:CN228931|ORPHA:140468|DOID:0111197
SO:1000037	chromosomal_duplication	biolink:SequenceFeature	mondo			(Drosophila)Dp|(fungi)Dp|chromosomal duplication	http://purl.obolibrary.org/obo/SO_1000037	An extra chromosome.	
MONDO:0003366	hydrarthrosis	biolink:Disease	mondo	ICD9:719.08|ICD9:719.00|MESH:D006833|DOID:528|SCTID:387637008			http://purl.obolibrary.org/obo/MONDO_0003366	Accumulation of watery fluid in the cavity of a joint. (Dorland, 27th ed)	MESH:D006833|SNOMEDCT:387637008|DOID:528
MONDO:0003367	gastric leiomyosarcoma (disease)	biolink:Disease	mondo	HP:0031025|SCTID:447785000|NCIT:C27200|DOID:5280|UMLS:C0744295		gastric leiomyosarcoma|leiomyosarcoma of stomach|stomach leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003367	An aggressive malignant smooth muscle neoplasm, arising from the stomach. It is characterized by a proliferation of neoplastic spindle cells.	SNOMEDCT:447785000|NCIT:C27200|UMLS:C0744295|DOID:5280
MONDO:0003368	prostate leiomyosarcoma	biolink:Disease	mondo	DOID:5282|NCIT:C5526|UMLS:C1335511		leiomyosarcoma of prostate gland|prostate gland leiomyosarcoma|leiomyosarcoma of the prostate|leiomyosarcoma of prostate|prostate leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003368	An aggressive malignant smooth muscle neoplasm, arising from the prostate. It is characterized by a proliferation of neoplastic spindle cells.	NCIT:C5526|UMLS:C1335511|DOID:5282
MONDO:0003369	vagina leiomyosarcoma	biolink:Disease	mondo	NCIT:C6326|DOID:5283|UMLS:C1336940		vagina leiomyosarcoma|vaginal leiomyosarcoma|leiomyosarcoma of the vagina|leiomyosarcoma of vagina	http://purl.obolibrary.org/obo/MONDO_0003369	An aggressive malignant smooth muscle neoplasm, arising from the vagina. It is characterized by a proliferation of neoplastic spindle cells.	NCIT:C6326|UMLS:C1336940|DOID:5283
MONDO:0003362	cutaneous leiomyosarcoma (disease)	biolink:Disease	mondo	NCIT:C4484|HP:0006755|DOID:5273|UMLS:C0346067|SCTID:254771006		leiomyosarcoma of zone of skin|leiomyosarcoma of the skin|cutaneous leiomyosarcoma|leiomyosarcoma of skin|zone of skin leiomyosarcoma|skin leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003362	An aggressive malignant smooth muscle neoplasm, arising from the skin. It is characterized by a proliferation of neoplastic spindle cells.	NCIT:C4484|UMLS:C0346067|DOID:5273|SNOMEDCT:254771006
MONDO:0003363	malignant dermis tumor	biolink:Disease	mondo	DOID:5274|SCTID:255096006|UMLS:C0346811|NCIT:C4574		malignant dermis neoplasm|malignant dermal neoplasm|malignant tumor of dermis|cancer of dermis|malignant tumor of the dermis|malignant neoplasm of dermis|malignant dermis tumor|malignant neoplasm of the dermis|dermis cancer	http://purl.obolibrary.org/obo/MONDO_0003363	A malignant neoplasm involving the dermis.	SNOMEDCT:255096006|NCIT:C4574|UMLS:C0346811|DOID:5274
MONDO:0003364	gallbladder leiomyosarcoma	biolink:Disease	mondo	NCIT:C5841|DOID:5275|UMLS:C1333746		leiomyosarcoma of gallbladder|leiomyosarcoma of gall bladder|gall bladder leiomyosarcoma|leiomyosarcoma of the gallbladder|gallbladder leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003364	An aggressive malignant smooth muscle neoplasm, arising from the gallbladder. It is characterized by a proliferation of neoplastic spindle cells.	NCIT:C5841|UMLS:C1333746|DOID:5275
MONDO:0003365	esophagus leiomyosarcoma	biolink:Disease	mondo	DOID:5276|NCIT:C5334|UMLS:C1333454		esophageal leiomyosarcoma|leiomyosarcoma of esophagus|esophagus leiomyosarcoma|leiomyosarcoma of the esophagus	http://purl.obolibrary.org/obo/MONDO_0003365	An aggressive malignant smooth muscle neoplasm, arising from the esophagus. It is characterized by a proliferation of neoplastic spindle cells.	NCIT:C5334|UMLS:C1333454|DOID:5276
GO:1900132	positive regulation of lipid binding	biolink:OntologyClass	mondo			upregulation of lipid binding|up-regulation of lipid binding|up regulation of lipid binding|activation of lipid binding	http://purl.obolibrary.org/obo/GO_1900132	Any process that activates or increases the frequency, rate or extent of lipid binding.	
NCBITaxon:12939	Anemia	organism taxon	mondo	GC_ID:1		Mohria|Anemia, the fern with tired blood	http://purl.obolibrary.org/obo/NCBITaxon_12939		
GO:1900131	negative regulation of lipid binding	biolink:OntologyClass	mondo			down-regulation of lipid binding|down regulation of lipid binding|inhibition of lipid binding|downregulation of lipid binding	http://purl.obolibrary.org/obo/GO_1900131	Any process that stops, prevents or reduces the frequency, rate or extent of lipid binding.	
MONDO:0003360	small intestine leiomyosarcoma	biolink:Disease	mondo	Orphanet:104076|ICD10:C17.8|DOID:5271|UMLS:C0920305|NCIT:C7085|ICD10:C17.3|ICD10:C17.2|ICD10:C17.1|ICD10:C17.0|SCTID:716651004	ordo_disease	smooth muscle connective tissue tumor|small bowel leiomyosarcoma|leiomyosarcoma of the small intestine|small intestine leiomyosarcoma|leiomyosarcoma of the small bowel|leiomyosarcoma of small intestine|small intestinal leiomyosarcoma|leiomyosarcoma of small bowel	http://purl.obolibrary.org/obo/MONDO_0003360	An aggressive malignant smooth muscle neoplasm, arising from the small intestine. It is characterized by a proliferation of neoplastic spindle cells.	DOID:5271|UMLS:C0920305|NCIT:C7085|ORPHA:104076|SNOMEDCT:716651004
MONDO:0003361	small intestinal sarcoma	biolink:Disease	mondo	DOID:5272|UMLS:C1336007|NCIT:C5335		sarcoma of the small bowel|small bowel sarcoma|small intestine sarcoma|sarcoma of small bowel|sarcoma of the small intestine|sarcoma, small intestinal|sarcoma of small intestine|small intestinal sarcoma	http://purl.obolibrary.org/obo/MONDO_0003361	A malignant soft tissue neoplasm that arises from the small intestine. Representative examples include leiomyosarcoma, angiosarcoma, and Kaposi sarcoma.	UMLS:C1336007|NCIT:C5335|DOID:5272
MONDO:0015359	autosomal dominant hereditary demyelinating motor and sensory neuropathy	biolink:Disease	mondo	UMLS:CN228926|ICD10:G60.0|Orphanet:140453	ordo_group_of_disorders	AD demyelinating HMSN	http://purl.obolibrary.org/obo/MONDO_0015359		UMLS:CN228926|ORPHA:140453
MONDO:0015358	hereditary motor and sensory neuropathy	biolink:Disease	mondo	Orphanet:140450|MESH:D015417|COHD:4134552|ICD10:G60.0|GARD:0012685|SCTID:398100001	ordo_group_of_disorders	HMSN	http://purl.obolibrary.org/obo/MONDO_0015358	A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)	MESH:D015417|SNOMEDCT:398100001|ORPHA:140450|UMLS:C0027888
MONDO:0015357	secondary hypoparathyroidism due to impaired parathormon secretion	biolink:Disease	mondo	UMLS:CN242104|ICD10:E20.8|Orphanet:140286	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015357		ORPHA:140286|UMLS:CN242104
MONDO:0015356	hereditary neoplastic syndrome	biolink:Disease	mondo	Orphanet:140162|MESH:D009386|SCTID:699346009|UMLS:CN199448|UMLS:C0027672|NCIT:C3266|UMLS:CN882908	ordo_group_of_disorders|predisposition	familial tumor syndrome|hereditary cancer syndrome|syndrome, hereditary neoplastic|hereditary cancer syndromes|syndromes, hereditary neoplastic|neoplastic syndrome, hereditary|hereditary neoplastic syndrome|inherited cancer syndrome|syndrome, hereditary cancer|syndromes, hereditary cancer|hereditary neoplastic syndromes|hereditary tumor syndrome|familial neoplastic syndrome|cancer syndromes, hereditary|cancer syndrome, hereditary|inherited cancer-predisposing syndrome	http://purl.obolibrary.org/obo/MONDO_0015356	The inherited predisposition toward getting a tumor.	UMLS:CN199448|NCIT:C3266|UMLS:CN882908|ORPHA:140162|UMLS:C0027672|MESH:D009386|SNOMEDCT:699346009
HGNC:17646	NGLY1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17646		
MONDO:0015351	neuropathy with hearing impairment	biolink:Disease	mondo	SCTID:723497003|UMLS:CN199414|ICD10:G60.8|Orphanet:139512	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015351	This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy.	ORPHA:139512|SNOMEDCT:723497003|UMLS:CN199414
MONDO:0015350	17q11.2 microduplication syndrome	biolink:Disease	mondo	UMLS:CN199408|ICD10:Q92.3|Orphanet:139474|UMLS:C4304642|SCTID:719583002	ordo_malformation_syndrome	Grisart-Destrée syndrome|trisomy 17q11.2|dup(17)(q11.2)|Grisart-Destree syndrome	http://purl.obolibrary.org/obo/MONDO_0015350	17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.	ORPHA:139474|SNOMEDCT:719583002|UMLS:C4304642|UMLS:CN199408
HGNC:17642	DCLRE1C	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17642		
MONDO:0015355	distal hereditary motor neuropathy type 7	biolink:Disease	mondo	Orphanet:139589|DOID:0111199|UMLS:CN199425|ICD10:G12.2	ordo_disease	distal spinal muscular atrophy with vocal cord paralysis|dHMN7	http://purl.obolibrary.org/obo/MONDO_0015355	Distal hereditary motor neuropathy type 7 is a rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.	UMLS:CN199425|ORPHA:139589|DOID:0111199
MONDO:0015354	hereditary sensory and autonomic neuropathy with deafness and global delay	biolink:Disease	mondo	UMLS:CN226662|SCTID:717826009|Orphanet:139573|UMLS:C4303566|ICD10:G60.8	ordo_disease	HSAN with deafness and global delay	http://purl.obolibrary.org/obo/MONDO_0015354	This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay.	ORPHA:139573|SNOMEDCT:717826009|UMLS:CN226662|UMLS:C4303566
MONDO:0015353	neuronopathy, distal hereditary motor, type 5A	biolink:Disease	mondo	DOID:0111204|OMIM:600794|Orphanet:139536|UMLS:C1833308|ICD10:G12.2	ordo_disease	neuropathy, distal hereditary motor, type 5A|spinal muscular atrophy, distal, type 5|distal spinal muscular atrophy type 5|neuronopathy, distal hereditary motor, type 5A|dHMN 5A|spinal muscular atrophy, distal, with upper limb predominance|neuronopathy, distal hereditary motor, type VA|spinal muscular atrophy, distal, type 5A|neuronopathy, distal hereditary motor, type VA; HMN5A|distal hereditary motor neuropathy type V|neuronopathy, distal hereditary motor, type 5|HMN 5A|HMN5A|dHMN5|distal HMN V	http://purl.obolibrary.org/obo/MONDO_0015353		ORPHA:139536|UMLS:C1833308|http://identifiers.org/omim/600794|DOID:0111204
MONDO:0015352	distal hereditary motor neuropathy type 2	biolink:Disease	mondo	MESH:C580044|ICD10:G12.2|Orphanet:139525|DOID:0111206	ordo_disease	dHMN2|distal spinal muscular atrophy type 2|dSMA2	http://purl.obolibrary.org/obo/MONDO_0015352		ORPHA:139525|DOID:0111206|MESH:C580044
HGNC:30605	SEPSECS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30605		
MONDO:0003377	extrahepatic bile duct leiomyosarcoma	biolink:Disease	mondo	UMLS:C1333508|NCIT:C5848|DOID:5293		leiomyosarcoma of extrahepatic bile duct|leiomyosarcoma of the extrahepatic bile duct|leiomyosarcoma of bile duct|extrahepatic bile duct leiomyosarcoma|bile duct leiomyosarcoma|leiomyosarcoma of the bile duct	http://purl.obolibrary.org/obo/MONDO_0003377	An aggressive malignant smooth muscle neoplasm, arising from an extrahepatic bile duct. It is characterized by a proliferation of neoplastic spindle cells.	NCIT:C5848|UMLS:C1333508|DOID:5293
MONDO:0003378	liver leiomyosarcoma	biolink:Disease	mondo	UMLS:C1333969|DOID:5296|NCIT:C5756		leiomyosarcoma of the liver|liver leiomyosarcoma|hepatic leiomyosarcoma|leiomyosarcoma of liver	http://purl.obolibrary.org/obo/MONDO_0003378	An aggressive malignant smooth muscle neoplasm, arising from the liver. It is characterized by a proliferation of neoplastic spindle cells.	NCIT:C5756|DOID:5296|UMLS:C1333969
MONDO:0003379	rectum leiomyosarcoma	biolink:Disease	mondo	DOID:5297|UMLS:C1335683|NCIT:C5549		rectum leiomyosarcoma|leiomyosarcoma of the rectum|rectal leiomyosarcoma|leiomyosarcoma of rectum	http://purl.obolibrary.org/obo/MONDO_0003379	An aggressive malignant smooth muscle neoplasm that arises from the rectum. It is characterized by a proliferation of neoplastic spindle cells.	NCIT:C5549|UMLS:C1335683|DOID:5297
SO:1000029	chromosomal_deletion	biolink:SequenceFeature	mondo			(bacteria)&ampDgr;|(fungi)D|deficiency|chromosomal deletion|(Drosophila)Df	http://purl.obolibrary.org/obo/SO_1000029	An incomplete chromosome.	
SO:1000028	intrachromosomal_mutation	biolink:SequenceFeature	mondo			intrachromosomal mutation	http://purl.obolibrary.org/obo/SO_1000028	A chromosomal structure variation within a single chromosome.	
MONDO:0003373	kidney leiomyosarcoma	biolink:Disease	mondo	UMLS:C1335743|DOID:5287|NCIT:C6183		leiomyosarcoma of the kidney|leiomyosarcoma of kidney|kidney leiomyosarcoma|renal leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003373	An aggressive malignant smooth muscle neoplasm, arising from the kidney. It is characterized by a proliferation of neoplastic spindle cells.	UMLS:C1335743|DOID:5287|NCIT:C6183
MONDO:0003374	laryngeal leiomyosarcoma	biolink:Disease	mondo	DOID:5288|UMLS:C1334371|NCIT:C6022		leiomyosarcoma of larynx|laryngeal leiomyosarcoma|larynx leiomyosarcoma|leiomyosarcoma of the larynx	http://purl.obolibrary.org/obo/MONDO_0003374	An aggressive malignant smooth muscle neoplasm, arising from the larynx. It is characterized by a proliferation of neoplastic spindle cells.	UMLS:C1334371|DOID:5288|NCIT:C6022
MONDO:0003375	obsolete uterus leiomyosarcoma	biolink:Disease	mondo			uterus leiomyosarcoma|leiomyosarcoma of corpus uteri	http://purl.obolibrary.org/obo/MONDO_0003375		
HGNC:29634	MEGF10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29634		
MONDO:0003376	mediastinum leiomyosarcoma	biolink:Disease	mondo	UMLS:C1334660|NCIT:C6619|DOID:5292		mediastinal leiomyosarcoma|leiomyosarcoma of the mediastinum|mediastinum leiomyosarcoma|leiomyosarcoma of mediastinum	http://purl.obolibrary.org/obo/MONDO_0003376	An aggressive malignant smooth muscle neoplasm, arising from the mediastinum. It is characterized by a proliferation of neoplastic spindle cells.	NCIT:C6619|UMLS:C1334660|DOID:5292
MONDO:0003370	retroperitoneal leiomyosarcoma	biolink:Disease	mondo	DOID:5284|NCIT:C27904|UMLS:C2187547		retroperitoneal space leiomyosarcoma|leiomyosarcoma of retroperitoneal space|retroperitoneal leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003370	An aggressive malignant smooth muscle neoplasm, arising from the retroperitoneum. It is characterized by a proliferation of neoplastic spindle cells.	NCIT:C27904|DOID:5284|UMLS:C2187547
MONDO:0003371	breast leiomyosarcoma	biolink:Disease	mondo	UMLS:C1332631|DOID:5285|NCIT:C5186		breast leiomyosarcoma|leiomyosarcoma of breast|leiomyosarcoma of the breast	http://purl.obolibrary.org/obo/MONDO_0003371	An aggressive malignant smooth muscle neoplasm, arising from the breast. It is characterized by a proliferation of neoplastic spindle cells.	DOID:5285|UMLS:C1332631|NCIT:C5186
MONDO:0003372	vulvar leiomyosarcoma	biolink:Disease	mondo	DOID:5286|NCIT:C40318|EFO:1001975|UMLS:C2168304		leiomyosarcoma of mammalian vulva|mammalian vulva leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003372	An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells.	UMLS:C2168304|NCIT:C40318|DOID:5286
MONDO:0015348	leukoencephalopathy with bilateral anterior temporal lobe cysts	biolink:Disease	mondo	ICD10:E75.2|Orphanet:139444	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015348	Leukoencephalopathy with bilateral anterior temporal lobe cysts is a nonprogressive neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested.	ORPHA:139444
MONDO:0015347	multicentric reticulohistiocytosis	biolink:Disease	mondo	SCTID:84241008|DOID:11824|ICD10:E78.81|MedDRA:10070595|ICD9:713.0|UMLS:C0311284|GARD:0007103|ICD9:272.8|NCIT:C27896|Orphanet:139436|ICD10:D76.3	ordo_disease|gard_rare	multicentric reticulohistiocytosis|lipoid dermatoarthritis|giant cell histiocytomatosis	http://purl.obolibrary.org/obo/MONDO_0015347	Multicentric reticulohistiocytosis (MRH) is a rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis.	UMLS:C0311284|SNOMEDCT:84241008|ORPHA:139436|NCIT:C27896|DOID:11824|MEDDRA:10070595
MONDO:0015346	Jeavons syndrome	biolink:Disease	mondo	SCTID:716278005|UMLS:C4274731|ICD10:G40.3|Orphanet:139431|UMLS:CN199399	ordo_disease	eyelid myoclonia with and without absences|EMEA|epilepsy with eyelid myoclonias	http://purl.obolibrary.org/obo/MONDO_0015346	Jeavons syndrome is an idiopathic generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures.	UMLS:CN199399|SNOMEDCT:716278005|ORPHA:139431|UMLS:C4274731
MONDO:0015345	perioral myoclonia with absences	biolink:Disease	mondo	Orphanet:139426|SCTID:766815007	ordo_disease	POMA	http://purl.obolibrary.org/obo/MONDO_0015345	Perioral myoclonia with absences is a rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome.	ORPHA:139426|SNOMEDCT:766815007
MONDO:0015349	progressive cavitating leukoencephalopathy	biolink:Disease	mondo	SCTID:719267003|Orphanet:139447|ICD10:E75.2|UMLS:C4304840	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015349	Progressive cavitating leukoencephalopathy is characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability.	UMLS:C4304840|SNOMEDCT:719267003|ORPHA:139447
MONDO:0015340	drug rash with eosinophilia and systemic symptoms	biolink:Disease	mondo	Orphanet:139402|SCTID:702809001|MESH:D063926|MedDRA:10058919	ordo_disease	dress syndrome|drug reaction eosinophilic systemic syndrome	http://purl.obolibrary.org/obo/MONDO_0015340	DRESS syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) is a hypersensitivity reaction characterized by a generalized skin rash, fever, eosinophilia, lymphocytosis and visceral involvement (hepatitis, nephritis, pneumonitis, pericarditis and myocarditis) and, in some patients, reactivation of human herpes virus 6.	UMLS:C1142139|MEDDRA:10058919|ORPHA:139402|MESH:D063926|SNOMEDCT:702809001
HGNC:30611	STT3B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30611		
HGNC:17655	GREM2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17655		
MONDO:0015344	idiopathic acute transverse myelitis	biolink:Disease	mondo	ICD10:G37.3|Orphanet:139423	ordo_clinical_subtype	ATM/TM	http://purl.obolibrary.org/obo/MONDO_0015344	Idiopathic acute transverse myelitis (ATM) is an immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement.	ORPHA:139423
MONDO:0015343	secondary acute transverse myelitis	biolink:Disease	mondo	Orphanet:139420|ICD10:G37.3|UMLS:CN199396	ordo_clinical_subtype	disease-associated transverse myelitis	http://purl.obolibrary.org/obo/MONDO_0015343	Secondary acute transverse myelitis (ATM) is characterized by focal inflammation within the spinal cord due to a known cause, usually an inflammatory disease.	UMLS:CN199396|ORPHA:139420
MONDO:0015342	acute transverse myelitis	biolink:Disease	mondo	MESH:D009188|SCTID:47000000|ICD9:341.20|ICD10:G37.3|Orphanet:139417|NCIT:C128378|COHD:139803|ICD9:323.9|UMLS:C0270627	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015342	Acute transverse myelitis (ATM) is an inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM) or secondary to a known cause (SATM).	ORPHA:139417|SNOMEDCT:47000000|MESH:D009188|UMLS:C0270627|NCIT:C128378
HGNC:17652	PORCN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17652		
MONDO:0015341	congenital panfollicular nevus (disease)	biolink:Disease	mondo	Orphanet:139414|HP:0025471	ordo_disease	congenital panfollicular nevus	http://purl.obolibrary.org/obo/MONDO_0015341	Congenital panfollicular nevus is a rare, benign, skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed.	ORPHA:139414
NCBITaxon:10335	Human alphaherpesvirus 3	organism taxon	mondo	GC_ID:1		VZV|varicella zoster virus VZV|Varicella-zoster virus|Human herpesvirus 3|Varicella Zoster Virus|varicella-zoster virus VZV|Human herpes virus 3|HHV-3	http://purl.obolibrary.org/obo/NCBITaxon_10335		
HGNC:29605	SH2B3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29605		
GO:0034255	regulation of urea metabolic process	biolink:OntologyClass	mondo			regulation of urea metabolism	http://purl.obolibrary.org/obo/GO_0034255	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving urea.	
GO:0034250	positive regulation of cellular amide metabolic process	biolink:OntologyClass	mondo			positive regulation of amide metabolism	http://purl.obolibrary.org/obo/GO_0034250	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving amides.	
MONDO:0042960	Sackey-Sakati-Aur syndrome	biolink:Disease	mondo	GARD:0000315|MESH:C537219|UMLS:C2931442	gard_rare	multiple dysmorphic features and pancytopenia|Aur syndrome|pancytopenia multiple congenital anomalies|Sackey Sakati Aur syndrome	http://purl.obolibrary.org/obo/MONDO_0042960		MESH:C537219|UMLS:C2931442
MONDO:0042961	sacral hemangiomas multiple congenital abnormalities	biolink:Disease	mondo	GARD:0000317|UMLS:C2931443|MESH:C537222	gard_rare		http://purl.obolibrary.org/obo/MONDO_0042961		MESH:C537222|UMLS:C2931443
MONDO:0042962	Slti-Salem syndrome	biolink:Disease	mondo	UMLS:C2931284|GARD:0000324|MEDGEN:419036|MESH:C536673	gard_rare	hypogonadism and frontoparietal alopecia|hypogonadotropic hypogonadism alopecia|Slti Salem syndrome	http://purl.obolibrary.org/obo/MONDO_0042962		MESH:C536673|UMLS:C2931284
MONDO:0042956	Saal-Bulas syndrome	biolink:Disease	mondo	UMLS:C2931439|MESH:C537193|GARD:0000311	gard_rare	Saal Bulas syndrome|ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum	http://purl.obolibrary.org/obo/MONDO_0042956		UMLS:C2931439|MESH:C537193
GO:0034248	regulation of cellular amide metabolic process	biolink:OntologyClass	mondo			regulation of amide metabolism	http://purl.obolibrary.org/obo/GO_0034248	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving amides.	
GO:0034249	negative regulation of cellular amide metabolic process	biolink:OntologyClass	mondo			negative regulation of amide metabolism	http://purl.obolibrary.org/obo/GO_0034249	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving amides.	
MONDO:0015391	nasopharyngeal teratoma	biolink:Disease	mondo	UMLS:C4531264|ICD10:D10.6|Orphanet:141107	ordo_clinical_subtype	teratoma of the nasopharynx|nasopharynx teratoma	http://purl.obolibrary.org/obo/MONDO_0015391	A teratoma that involves the nasopharynx.	UMLS:C4531264|ORPHA:141107
MONDO:0015390	proboscis lateralis	biolink:Disease	mondo	SCTID:715828006|Orphanet:141099|UMLS:C4274985|ICD10:Q30.8	ordo_malformation_syndrome	congenital tubular nose	http://purl.obolibrary.org/obo/MONDO_0015390	Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly.	UMLS:C4274985|SNOMEDCT:715828006|ORPHA:141099
MONDO:0042970	disorder of glutamate decarboxylase	biolink:Disease	mondo	GARD:0002505|UMLS:C1291560|ICD9:277.6|MEDGEN:452941|GTR:AN0168165|GTR:AN0264281|SCTID:124596009	gard_rare	glutamate decarboxylase deficiency|glutamate decarboxylase activity disease|deficiency of glutamate decarboxylase|disorder of glutamate decarboxylase activity|disorder of glutamate decarboxylase activity	http://purl.obolibrary.org/obo/MONDO_0042970	A disease that has its basis in the disruption of glutamate decarboxylase activity.	SNOMEDCT:124596009|UMLS:C1291560
MONDO:0042971	congenital herpes virus infection	biolink:Disease	mondo	SCTID:715337002|UMLS:C4275250|GARD:0002669|GARD:0002670	gard_rare	congenital herpes virus infection|congenital infection caused by herpes virus|Herpesviridae infectious embryofetopathy|Herpesviridae caused infectious embryofetopathy	http://purl.obolibrary.org/obo/MONDO_0042971	An infectious embryofetopathy caused by infection with Herpesviridae.	UMLS:C4275250|SNOMEDCT:715337002
MONDO:0042972	meningococcemia	biolink:Disease	mondo	UMLS:C0025306|SCTID:4089001|ICD9:036.2|GARD:0003472|MEDGEN:6300	gard_rare	meningococcal septicemia|meningococcemia	http://purl.obolibrary.org/obo/MONDO_0042972		SNOMEDCT:4089001|UMLS:C0025306
MONDO:0042973	familial osteosclerosis	biolink:Disease	mondo	GARD:0004174	gard_rare	hereditary osteosclerosis	http://purl.obolibrary.org/obo/MONDO_0042973	An instance of osteosclerosis that is caused by an inherited modification of the individual's genome.	
NCBITaxon:10319	Varicellovirus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_10319		
MONDO:0042967	rheumatic disease of mitral valve	biolink:Disease	mondo	UMLS:C0264765|SCTID:83898004		rheumatic mitral valve disease|rheumatologic disorder of mitral valve|mitral valve rheumatologic disorder|rheumatic mitral valve changes|rheumatic disease of mitral valve	http://purl.obolibrary.org/obo/MONDO_0042967	A rheumatologic disorder that involves the mitral valve.	UMLS:C0264765|SNOMEDCT:83898004
MONDO:0042968	partial duplication of chromosome 12	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0042968		
MONDO:0042969	partial duplication of the long arm of chromosome 12	biolink:Disease	mondo	MESH:C538300|GARD:0001926|UMLS:C0795846	gard_rare	chromosome 12q duplication|partial trisomy 12q|12q trisomy|trisomy 12q|Duplication 12q|12q duplication	http://purl.obolibrary.org/obo/MONDO_0042969	Chromosome 12q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 12. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 12q duplication include developmental delay, intellectual disability, behavioral problems, growth delay, and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.	MESH:C538300|UMLS:C0795846
MONDO:0042963	wandering spleen	biolink:Disease	mondo	NCIT:C85224|GARD:0000328|MESH:D050805|MEDGEN:75782|SCTID:191384005|UMLS:C0272414		splenic Ptoses|displaced spleen|spleens, displaced|spleen, wandering|spleens, drifting|splenic ptosis|displaced spleens|spleens, floating|spleens, wandering|drifting spleens|Splenoptoses|ptosis, splenic|spleen, drifting|floating spleens|wandering spleen|wandering spleens|floating spleen|spleen, floating|splenoptosis|Ptoses, splenic|spleen, displaced|drifting spleen	http://purl.obolibrary.org/obo/MONDO_0042963	A condition characterized by an abnormal spleen position due to loss, weakness, or malformation of one or more of the ligaments that hold the spleen in its normal position in the left upper abdomen. It may present as a birth defect or follow injuries or pregnancy. Signs and symptoms include abdominal discomfort and splenomegaly.	MESH:D050805|UMLS:C0272414|SNOMEDCT:191384005|NCIT:C85224
MONDO:0042964	Machado-Joseph disease type 4	biolink:Disease	mondo	SCTID:91956006|ICD9:334.3|UMLS:C0686352		azorean disease, type iv	http://purl.obolibrary.org/obo/MONDO_0042964	A subtype of Machado-Joseph disease characterized by Parkinsonian symptoms that respond particularly well to levodopa treatment.	SNOMEDCT:91956006|UMLS:C0686352
MONDO:0042965	Machado-Joseph disease type 5	biolink:Disease	mondo	ICD9:334.3		azorean disease, type V	http://purl.obolibrary.org/obo/MONDO_0042965	A subtype of Machado-Joseph disease characterized by resemblance to Hereditary Spastic Paraplegia; however, more research is needed to conclude the relationship between Type V MJD and hereditary spastic paraplegia.	
MONDO:0042966	inherited mitral valve disease	biolink:Disease	mondo	SCTID:75372006		hereditary mitral valve disease|congenital anomaly of mitral valve|congenital mitral valve abnormality|congenital malformation of mitral valve	http://purl.obolibrary.org/obo/MONDO_0042966	An instance of mitral valve disease that is caused by an inherited modification of the individual's genome.	SNOMEDCT:75372006
MONDO:0015395	congenital subglottic stenosis	biolink:Disease	mondo	SCTID:204552001|ICD10:Q31.1|ICD9:748.3|Orphanet:141121	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0015395		UMLS:C0396051|SNOMEDCT:204552001|ORPHA:141121
MONDO:0015394	nasal encephalocele	biolink:Disease	mondo	SCTID:65455002|ICD10:Q01.1|Orphanet:141118	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0015394	Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also reported in some cases.	UMLS:C0014066|SNOMEDCT:65455002|ORPHA:141118
MONDO:0015393	nasal ganglioglioma	biolink:Disease	mondo	Orphanet:141115	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0015393	Nasal ganglioglioma is a rare tumor, presenting in newborns, containing both neuronal and astrocytic components and that can be endonasal, extranasal or both. It is usually identified as a nasal mass that may cause feeding difficulties and nasal obstruction.	ORPHA:141115
MONDO:0015392	nasal glial heterotopia	biolink:Disease	mondo	Orphanet:141112|UMLS:C0266490|ICD9:748.1|SCTID:5645008	ordo_disease	nasal glioma	http://purl.obolibrary.org/obo/MONDO_0015392	Nasal glial heterotopia is a rare developmental abnormality presenting usually at birth or in early childhood (rarely in adulthood) as a benign, non-pulsatile mass that can lead to nasal obstruction, deformation of the septum and nasal bone, and respiratory distress if untreated. Nasal glial heterotopias have no communication with the central nervous system; however an associated defect in the cribriform plate is sometimes reported.	UMLS:C0266490|SNOMEDCT:5645008|ORPHA:141112
MONDO:0015399	glossopalatine ankylosis	biolink:Disease	mondo	SCTID:717814004|UMLS:CN199497|ICD10:Q38.3|Orphanet:141163|UMLS:C4303569	ordo_malformation_syndrome	Cosack syndrome	http://purl.obolibrary.org/obo/MONDO_0015399	Glossopalatine ankylosis is a disorder belonging to the group of oromandibular-limb hypogenesis syndromes (OLHS) and is characterised by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge.	ORPHA:141163|UMLS:C4303569|UMLS:CN199497|SNOMEDCT:717814004
MONDO:0015398	hemifacial microsomia	biolink:Disease	mondo	ICD10:Q75.8|SCTID:109393007|Orphanet:141136|UMLS:CN199493|GARD:0006582	ordo_malformation_syndrome	first branchial arch syndrome|otomandibular syndrome|otomandibular dysostosis|Laterofacial microsomia	http://purl.obolibrary.org/obo/MONDO_0015398		ORPHA:141136|UMLS:CN199493|SNOMEDCT:109393007
MONDO:0015397	oculo-auriculo-vertebral spectrum	biolink:Disease	mondo	Orphanet:141132|GARD:0012074	ordo_group_of_disorders|gard_rare	OAVD|oculo-auriculo-vertebral dysplasia|OAV spectrum|unilateral or bilateral and asymmetric otomandibular dysplasia	http://purl.obolibrary.org/obo/MONDO_0015397		ORPHA:141132
MONDO:0015396	congenital laryngeal cyst	biolink:Disease	mondo	Orphanet:141124|UMLS:C0339880|SCTID:765763007|ICD10:Q31.8	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0015396	Congenital laryngeal cyst is a rare larynx anomaly characterized by a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, and to feeding difficulties and failure to thrive. It can be associated with laryngomalacia.	ORPHA:141124|SNOMEDCT:765763007|UMLS:C0339880
GO:0071295	cellular response to vitamin	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0071295	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin stimulus.	
MONDO:0015380	facial dermoid cyst	biolink:Disease	mondo	ICD10:Q18.8|SCTID:763220008|Orphanet:141051	ordo_morphological_anomaly	dermoid cyst of the face	http://purl.obolibrary.org/obo/MONDO_0015380	Facial dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue, which usually manifests as a firm, nonpulsatile mass, often with a sinus opening or a hair-bearing punctum, most commonly located in the periorbital and nasal area.	SNOMEDCT:763220008|ORPHA:141051
MONDO:0042981	aortic valve stenosis	biolink:Disease	mondo	SCTID:60573004|GARD:0005830|HP:0001650	gard_rare	aortic valve stenosis|aortic stenosis|stenosed aortic valve|valvular aortic stenosis	http://purl.obolibrary.org/obo/MONDO_0042981		SNOMEDCT:60573004
MONDO:0042982	GATA2 deficiency with susceptibility to MDS/AML	biolink:Disease	mondo	GARD:0013373|NCIT:C126349	predisposition|gard_rare	GATA2 deficiency/MonoMac syndrome|GATA2 deficiency	http://purl.obolibrary.org/obo/MONDO_0042982	A disorder arising from deficiency in the GATA2 with a wide spectrum of phenotypes. Autosomal dominant mutations of GATA2 cause a haploinsufficiency, which, in consequence, cause individuals to develop hematological, immunological, lymphatic, or other presentations. These often progress to severe organ (e.g. lung) failure, opportunistic infections, myelodysplastic syndrome, and/or acute myeloid leukemia. The most common clinical denominator is the propensity for myeloid neoplasia (myelodysplastic syndrome [MDS], myeloproliferative neoplasms [MPN], chronic myelomonocytic leukemia [CMML], acute myeloid leukemia [AML]).	NCIT:C126349
MONDO:0042983	neurocutaneous syndrome	biolink:Disease	mondo	NCIT:C84348|SCTID:78572006|UMLS:C0265316|MESH:D020752		neurocutaneous disorder|syndromes, neurocutaneous|neuroectodermal dysplasia syndrome|neuroectodermal dysplasia syndromes|syndrome, neurocutaneous|phakomatosis|neurocutaneous disorders|Phacomatoses|syndrome, neuroectodermal dysplasia|neuroectodermal dysplasia|syndromes, neuroectodermal dysplasia|Phacomatosis|neurocutaneous syndrome|Phakomatoses	http://purl.obolibrary.org/obo/MONDO_0042983	A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.	UMLS:C0265316|SNOMEDCT:78572006|NCIT:C84348|MESH:D020752
GO:0009295	nucleoid	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0009295	The region of a virus, bacterial cell, mitochondrion or chloroplast to which the nucleic acid is confined.	
MONDO:0042980	Westphal disease	biolink:Disease	mondo	UMLS:C1279186|SCTID:182747006|GTR:AN0099345|GTR:AN0099344|GARD:0005557|GTR:AN0099343|MEDGEN:224821|MESH:C536694	gard_rare	HD- Westphal variant|Westphal variant of Huntington's disease|Westphal disease	http://purl.obolibrary.org/obo/MONDO_0042980		UMLS:C1279186|MESH:C536694|SNOMEDCT:182747006
GO:0034220	ion transmembrane transport	biolink:OntologyClass	mondo			ATP hydrolysis coupled ion transmembrane transport|ion membrane transport|transmembrane ion transport	http://purl.obolibrary.org/obo/GO_0034220	A process in which an ion is transported across a membrane.	
MONDO:0042978		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0042978		
MONDO:0042979	hypokalemic periodic paralysis, type 1	biolink:Disease	mondo	UMLS:C3714580|OMIM:170400		HOKPP1|hypokalemic periodic paralysis, type 1; HOKPP1	http://purl.obolibrary.org/obo/MONDO_0042979		UMLS:C3714580|http://identifiers.org/omim/170400
MONDO:0015389	supernumerary nostril	biolink:Disease	mondo	HP:0009934|SCTID:719163006|ICD10:Q30.8|Orphanet:141096|UMLS:CN226671	ordo_malformation_syndrome	accessory nostril|supernumerary naris	http://purl.obolibrary.org/obo/MONDO_0015389	Supernumerary nostril is an extremely rare congenital malformation characterized by the presence of one or more accessory nostrils, with or without accessory cartilage, located medially, above, below or laterally to the other nostrils. Unlike in polyrhinia there is no duplication of the nasal septum/cavity. Supernumerary nostril is often associated with other congenital malformations usually of face.	SNOMEDCT:719163006|ORPHA:141096|UMLS:CN226671
HGNC:17619	NDE1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17619		
MONDO:0042974	parainfluenza virus type 3 infectious disease	biolink:Disease	mondo	UMLS:C0276324|GARD:0004215|OMOP:4147524|SCTID:30270006|ICD9:079.89	gard_rare	human respirovirus 3 caused disease or disorder|human respirovirus 3 disease or disorder|infection caused by parainfluenza virus 3|human parainfluenza virus type 3|infection caused by human parainfluenza virus 3|PIV3|infection due to human parainfluenza virus 3|infection due to parainfluenza virus 3|human respirovirus 3 infectious disease	http://purl.obolibrary.org/obo/MONDO_0042974	Parainfluenza virus type 3 is one of a group of common viruses known as human parainfluenza viruses (HPIV) that cause a variety of respiratory illnesses. Symptoms usually develop between 2 and 7 days from the time of exposure and typically resolve in 7-10 days. Symptoms may include fever, runny nose, and cough. HPIV-3 can also cause bronchiolitis, bronchitis, and pneumonia. Infants and young children are particularly susceptible to HPIV-3 infections, though older adults and those with a weakened immune system are also at risk for complications. HPIVs are usually spread from an infected person to others through coughing, sneezing, and/or touching. There is currently no vaccine to protect against parainfluenza virus infections. Most HPIV infections resolve on their own and do not require special treatment, though medical intervention may be necessary for severe breathing problems. Most adults have antibodies against parainfluenza but can get repeat infections.	SNOMEDCT:30270006|UMLS:C0276324
MONDO:0042975	pseudoachondroplastic dysplasia 2	biolink:Disease	mondo	MEDGEN:418965|MESH:C535820|GARD:0004542|UMLS:C2931030	gard_rare	pseudoachondroplastic dysplasia 2|spondyloepiphyseal dysplasia pseudoachondroplastic 2|recessive pseudoachondroplasia	http://purl.obolibrary.org/obo/MONDO_0042975		MESH:C535820|UMLS:C2931030
MONDO:0042976	vitamin B deficiency	biolink:Disease	mondo	UMLS:C0042850|NCIT:C35129|SCTID:47903000|MESH:D014804		deficiencies, vitamin B|deficiency, vitamin B|vitamin B deficiencies	http://purl.obolibrary.org/obo/MONDO_0042976	A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat.	NCIT:C35129|SNOMEDCT:47903000|MESH:D014804|UMLS:C0042850
HGNC:17616	IL17RD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17616		
MONDO:0042977	trichoepithelioma, multiple familial, 1	biolink:Disease	mondo	GARD:0005262|OMIM:601606	gard_rare	multiple familial trichoepithelioma 1|trichoepithelioma multiple familial 1|Brooke-Fordyce Trichoepitheliomas|epithelioma adenoides cysticum of Brooke|epithelioma, hereditary multiple benign cystic|trichoepithelioma, multiple familial, 1|MFT1	http://purl.obolibrary.org/obo/MONDO_0042977		http://identifiers.org/omim/601606
MONDO:0015384	digestive duplication cyst of the tongue	biolink:Disease	mondo	ICD10:Q38.3|Orphanet:141071	ordo_morphological_anomaly	gastric duplication cyst of the tongue|enteric duplication cyst of the tongue|foregut duplication cyst of the tongue|cysts and fistulae of the face and oral cavity of tongue|tongue cysts and fistulae of the face and oral cavity	http://purl.obolibrary.org/obo/MONDO_0015384	Digestive duplication cyst of the tongue is an extremely rare otorhinolaryngological malformation which occurs during early embryogenesis and is characterized by a single, and on occasion multiple, cystic lesion that is most frequently located in the anterior portion of the tongue, either deeply embedded within it or superficially on it. Depending mostly on size and location of the cyst, patients could be asymptomatic or could present a wide array of symptoms, such as varying degrees of respiratory and feeding difficulties, lingual swelling and protrusion, dysphagia, and more rarely, recurrent bleeding or brownish discharge from a lingual sinus.	ORPHA:141071
MONDO:0015383	cervicofacial fibrochondroma	biolink:Disease	mondo	Orphanet:141067	ordo_morphological_anomaly	cervicofacial enchondroma	http://purl.obolibrary.org/obo/MONDO_0015383		ORPHA:141067
MONDO:0015382	lower lip fistula	biolink:Disease	mondo	ICD10:Q38.0|Orphanet:141064	ordo_morphological_anomaly	lower lip cysts and fistulae of the face and oral cavity|cysts and fistulae of the face and oral cavity of lower lip	http://purl.obolibrary.org/obo/MONDO_0015382	A cysts and fistulae of the face and oral cavity that involves the lower lip.	ORPHA:141064
MONDO:0015381	commissural lip fistula	biolink:Disease	mondo	Orphanet:141061|ICD10:Q38.0	ordo_morphological_anomaly	cysts and fistulae of the face and oral cavity of labial commissure|labial commissure cysts and fistulae of the face and oral cavity	http://purl.obolibrary.org/obo/MONDO_0015381	A cysts and fistulae of the face and oral cavity that involves the labial commissure.	ORPHA:141061
MONDO:0015388	polyrrhinia	biolink:Disease	mondo	SCTID:716279002|Orphanet:141091|ICD10:Q30.8	ordo_malformation_syndrome	Double nose|Polyrhinia	http://purl.obolibrary.org/obo/MONDO_0015388	Polyrrhinia is an extremely rare, major congenital malformation characterized by complete duplication of the nose resulting in twofully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair.	ORPHA:141091|SNOMEDCT:716279002
MONDO:0015387	nasolacrimal duct cyst	biolink:Disease	mondo	ICD10:H04.6|Orphanet:141083	ordo_morphological_anomaly	dacryocystocele|dacryocele|nasolacrimal mucocele	http://purl.obolibrary.org/obo/MONDO_0015387	Nasolacrimal duct cyst describes a unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females.	ORPHA:141083
MONDO:0015386	epignathus (disease)	biolink:Disease	mondo	HP:0030767|SCTID:31248004|Orphanet:141077|UMLS:C0266725|ICD10:D37.0	ordo_clinical_subtype	Epignathus|oropharyngeal teratoma	http://purl.obolibrary.org/obo/MONDO_0015386	Epignathus is a very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations (depending on the tumor size) including obstructive polyhydramnios in the prenatal period and dyspnea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties) postnatally. When large, they can lead to airway obstruction, asphyxia and death in the neonatal period.	ORPHA:141077|SNOMEDCT:31248004|UMLS:C0266725
MONDO:0015385	external auditory canal aplasia/hypoplasia	biolink:Disease	mondo	ICD10:Q16.1|Orphanet:141074	ordo_morphological_anomaly	external auditory canal stenosis/atresia	http://purl.obolibrary.org/obo/MONDO_0015385		ORPHA:141074
MONDO:0005967	splenic tuberculosis	biolink:Disease	mondo	DOID:9305|EFO:0007492|ICD9:017.7|ICD10:A18.85|SCTID:28399005|MESH:D014400|UMLS:C0041331			http://purl.obolibrary.org/obo/MONDO_0005967	Infection of the spleen with species of mycobacterium.	MESH:D014400|SNOMEDCT:28399005|UMLS:C0041331|DOID:9305
MONDO:0003304	plexiform neurofibroma (disease)	biolink:Disease	mondo	UMLS:C0206728|EFO:0000658|DOID:5151|HP:0009732|SCTID:403818001|ICDO:9550/0|ICD9:215.9|NCIT:C3797|MESH:D018318		plexiform neurofibroma	http://purl.obolibrary.org/obo/MONDO_0003304	An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.)	SNOMEDCT:403818001|NCIT:C3797|DOID:5151|UMLS:C0206728|MESH:D018318
NCBITaxon:10374	Gammaherpesvirinae	organism taxon	mondo	GC_ID:1		Gammaherpesviruses|lymphoproliferative virus group	http://purl.obolibrary.org/obo/NCBITaxon_10374		
MONDO:0005966	spleen cancer	biolink:Disease	mondo	SCTID:127230005|NCIT:C3539|EFO:0007491|ICD10:C26.1|DOID:672|MESH:D013160		cancer of the spleen|malignant splenic tumor|malignant tumor of spleen|malignant splenic neoplasm|malignant tumor of the spleen|malignant neoplasm of spleen|cancer of spleen|malignant spleen neoplasm|malignant neoplasm of the spleen|splenic cancer|malignant tumour of spleen|spleen neoplasm|spleen cancer|splenic neoplasm	http://purl.obolibrary.org/obo/MONDO_0005966	A malignant neoplasm involving the spleen	NCIT:C3539|MESH:D013160|SNOMEDCT:127230005|DOID:672
MONDO:0030922	intellectual disability, autosomal dominant 56	biolink:Disease	mondo	OMIM:617854|UMLS:CN787270|DOID:0080226		autosomal dominant mental retardation 56|mental retardation, autosomal dominant 56|MRD56|mental retardation, autosomal dominant 56; MRD56|intellectual disability, autosomal dominant 56|intellectual disability, autosomal dominant 56; MRD56|autosomal dominant intellectual disability 56	http://purl.obolibrary.org/obo/MONDO_0030922		DOID:0080226|http://identifiers.org/omim/617854|UMLS:CN787270
MONDO:0003305	cellular neurofibroma	biolink:Disease	mondo	NCIT:C41427|DOID:5152|UMLS:C1516371		cellular neurofibroma	http://purl.obolibrary.org/obo/MONDO_0003305	A neurofibroma characterized by the presence of areas with increased cellularity.	UMLS:C1516371|NCIT:C41427|DOID:5152
NCBITaxon:10375	Lymphocryptovirus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_10375		
MONDO:0005969	st. Louis encephalitis	biolink:Disease	mondo	MedDRA:10041896|EFO:0007495|ICD9:062.3|UMLS:C0014060|ICD10:A83.3|DOID:10845|MESH:D004674|Orphanet:83484|SCTID:417607009	ordo_disease	Saint Louis encephalitis|Neuroinvasive St. Louis encephalitis virus infection|St. Louis encephalitis virus infectious encephalitis|St. Louis encephalitis virus caused infectious encephalitis	http://purl.obolibrary.org/obo/MONDO_0005969	A viral encephalitis caused by the St. Louis encephalitis virus (encephalitis virus, st. louis), a flavivirus. It is transmitted to humans and other vertebrates primarily by mosquitoes of the genus culex. The primary animal vectors are wild birds and the disorder is endemic to the midwestern and southeastern United States. Infections may be limited to an influenza-like illness or present as an aseptic meningitis or encephalitis. Clinical manifestations of the encephalitic presentation may include seizures, lethargy, myoclonus, focal neurologic signs, coma, and death. (From Adams et al., Principles of Neurology, 6th ed, p750)	MESH:D004674|DOID:10845|UMLS:C0014060|MEDDRA:10041896|SNOMEDCT:417607009|ORPHA:83484
NCBITaxon:10376	Human gammaherpesvirus 4	organism taxon	mondo	GC_ID:1		EPV|Epstein-Barr virus|Human herpesvirus type 4|Human herpesvirus 4|Epstein-Barr virus EBV|Epstein Barr virus|HHV-4	http://purl.obolibrary.org/obo/NCBITaxon_10376		
MONDO:0003306	atypical neurofibroma	biolink:Disease	mondo	UMLS:C1510961|DOID:5153|NCIT:C41426		atypical neurofibroma	http://purl.obolibrary.org/obo/MONDO_0003306	A neurofibroma characterized by the presence of cellular pleomorphism.	UMLS:C1510961|NCIT:C41426|DOID:5153
GO:0048863	stem cell differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0048863	The process in which a relatively unspecialized cell acquires specialized features of a stem cell. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells.	
MONDO:0005968	sporotrichosis	biolink:Disease	mondo	ICD10:B42.8|SCTID:42094007|UMLS:C0038034|ICD10:B42.9|ICD10:B42.7|MESH:D013174|EFO:0007494|GARD:0007692|Orphanet:826|COHD:434859|ICD10:B42|ICD10:B42.1|ICD10:B42.0|DOID:14484|MedDRA:10041736|ICD9:117.1	ordo_disease|gard_rare	rose gardener's disease	http://purl.obolibrary.org/obo/MONDO_0005968	The commonest and least serious of the deep mycoses, characterized by nodular lesions of the cutaneous and subcutaneous tissues. It is caused by inhalation of contaminated dust or by infection of a wound.	SNOMEDCT:42094007|MEDDRA:10041736|MESH:D013174|UMLS:C0038034|DOID:14484|ORPHA:826
MONDO:0003307	multiple mucosal neuroma	biolink:Disease	mondo	DOID:5155|UMLS:C1334828|NCIT:C6559		multiple mucosal neuromas	http://purl.obolibrary.org/obo/MONDO_0003307		UMLS:C1334828|DOID:5155|NCIT:C6559
GO:0048864	stem cell development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0048864	The process whose specific outcome is the progression of the stem cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to its specific fate.	
MONDO:0003300	appendix leiomyoma	biolink:Disease	mondo	UMLS:C1332327|NCIT:C5514|DOID:5146		appendix leiomyoma|leiomyoma of vermiform appendix|appendiceal leiomyoma|vermiform appendix leiomyoma|leiomyoma of appendix|leiomyoma of the appendix	http://purl.obolibrary.org/obo/MONDO_0003300	A well-circumscribed benign smooth muscle neoplasm arising from the appendix. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOID:5146|UMLS:C1332327|NCIT:C5514
MONDO:0005963	sparganosis	biolink:Disease	mondo	UMLS:C0037753|NCIT:C35030|MESH:D013031|ICD9:123.5|DOID:10080|SCTID:31659000|ICD10:B70.1|EFO:0007488		Spirometra infectious disease|Spirometra caused disease or disorder|sparganosis [larval diphyllobothriasis]|infection by sparganum|Spirometra disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005963	A condition resulting from infection with the second stage larvae of the parasite Spirometra.	SNOMEDCT:31659000|NCIT:C35030|MESH:D013031|UMLS:C0037753|DOID:10080
MONDO:0005962	skeletal tuberculosis	biolink:Disease	mondo	MESH:D014394|ICD10:A18.0|ICD9:015|EFO:0007487|DOID:1639|UMLS:C0041324|SCTID:17653001|ICD9:015.9		osteoarticular tuberculosis	http://purl.obolibrary.org/obo/MONDO_0005962	Tuberculosis of the bones or joints.	MESH:D014394|UMLS:C0041324|SNOMEDCT:17653001|DOID:1639
MONDO:0003301	dartoic leiomyoma	biolink:Disease	mondo	NCIT:C4483|ICD9:215.9|DOID:5147|UMLS:C0346066|SCTID:254770007		dartos muscle leiomyoma|dartoic myoma|leiomyoma of dartos muscle|dartoic leiomyoma	http://purl.obolibrary.org/obo/MONDO_0003301	A cutaneous leiomyoma arising from the dartos muscle of the scrotum or labia majora.	NCIT:C4483|UMLS:C0346066|DOID:5147|SNOMEDCT:254770007
NCBITaxon:10379	Rhadinovirus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_10379		
MONDO:0003302	epithelioid neurofibroma	biolink:Disease	mondo	NCIT:C6558|SCTID:404032008|ICD9:215.9|DOID:5149|UMLS:C1275264		epithelioid neurofibroma	http://purl.obolibrary.org/obo/MONDO_0003302	A rare neurofibroma with epithelioid morphology.	DOID:5149|SNOMEDCT:404032008|NCIT:C6558|UMLS:C1275264
MONDO:0030921	intellectual disability, autosomal dominant 55, with seizures	biolink:Disease	mondo	UMLS:CN757796|OMIM:617831|DOID:0080227		mental retardation, autosomal dominant 55, with seizures|intellectual disability, autosomal dominant 55, with seizures; MRD55|mental retardation, autosomal dominant 55, with seizures; MRD55|autosomal dominant mental retardation 55|MRD55|autosomal dominant intellectual disability 55|intellectual disability, autosomal dominant 55, with seizures	http://purl.obolibrary.org/obo/MONDO_0030921		http://identifiers.org/omim/617831|UMLS:CN757796|DOID:0080227
MONDO:0005965	spinal stenosis	biolink:Disease	mondo	SCTID:76107001|ICD9:724.09|MESH:D013130|EFO:0007490|ICD10:M48.06|ICD9:724.00|HP:0003416|ICD10:M48.0|ICD10:M48.02|COHD:77079|DOID:6725|ICD9:723.0|ICD10:M48.00		cervical spinal stenosis|spinal stenosis of lumbar region|lumbar spinal stenosis	http://purl.obolibrary.org/obo/MONDO_0005965	Narrowing of the spinal canal.	DOID:6725|MESH:D013130|SNOMEDCT:76107001
MONDO:0003303	neurofibroma of gallbladder	biolink:Disease	mondo	DOID:5150|UMLS:C1333751|NCIT:C5746		neurofibroma of the gallbladder|neurofibroma of gallbladder|gallbladder neurofibroma|neurofibroma of gall bladder|gall bladder neurofibroma	http://purl.obolibrary.org/obo/MONDO_0003303	A non-metastasizing encapsulated neoplasm arising from nerves in the gallbladder. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells.	NCIT:C5746|DOID:5150|UMLS:C1333751
MONDO:0005964	sphenoid sinusitis	biolink:Disease	mondo	ICD10:J32.3|MESH:D015524|NCIT:C35031|EFO:0007489|DOID:10794|SCTID:13266007|UMLS:C0037886		sphenoidal sinusitis|sphenoid bone sinusitis|sinusitis of sphenoid bone	http://purl.obolibrary.org/obo/MONDO_0005964	An acute or chronic inflammatory process affecting the mucous membrane of the sphenoid sinus.	DOID:10794|MESH:D015524|NCIT:C35031|UMLS:C0037886|SNOMEDCT:13266007
MONDO:0030920	intellectual disability, autosomal dominant 54	biolink:Disease	mondo	OMIM:617799|DOID:0080230|EFO:0009164		autosomal dominant mental retardation 54|autosomal dominant intellectual disability 54|mental retardation, autosomal dominant 54; MRD54|mental retardation, autosomal dominant 54|intellectual disability, autosomal dominant 54; MRD54|MRD54|intellectual disability, autosomal dominant 54	http://purl.obolibrary.org/obo/MONDO_0030920		http://identifiers.org/omim/617799|DOID:0080230
UBERON:0012167	buccal fat pad	biolink:AnatomicalEntity	mondo			Bichat's fat pad|cheek fat pad	http://purl.obolibrary.org/obo/UBERON_0012167	The Buccal fat pad is one of several encapsulated fat masses in the cheek. It is a deep fat pad located on either side of the face between the buccinator muscle and several more superficial muscles. It should not be confused with the malar fat pad, which is directly below the skin of the cheek. It should also not be confused with jowl fat pads. It is implicated in the formation of hollow cheeks and the nasolabial fold, but not in the formation of jowls.	
MONDO:0005961	sinusitis	biolink:Disease	mondo	ICD10:J01|MESH:D012852|NCIT:C35024|ICD10:J01.9|ICD9:461|DOID:0050127|SCTID:36971009|ICD9:461.9|EFO:0007486|UMLS:C0037199|ICD10:J01.90			http://purl.obolibrary.org/obo/MONDO_0005961	An acute or chronic inflammatory process affecting the mucous membranes of any sinus cavity.	SNOMEDCT:36971009|NCIT:C35024|DOID:0050127|UMLS:C0037199|MESH:D012852
MONDO:0005960	silicosis	biolink:Disease	mondo	ICD10:J62|MESH:D012829|GARD:0007647|ICD10:J62.8|SCTID:805002|ICD9:502|UMLS:C0037116|DOID:10325|NCIT:C3369|EFO:0007485	gard_rare	nodular silicosis|silica pneumoconiosis|pneumoconiosis due to silicates|experimental silicosis|pneumoconiosis due to silica|accelerated silicosis|silicosis|chronic silicosis|silicotuberculosis|silicatosis|acute silicosis|silicotic fibrosis of lung|pneumoconiosis caused by silica	http://purl.obolibrary.org/obo/MONDO_0005960	Silicosis is a respiratory disease caused by breathing in (inhaling) silica dust. There are three types of silicosis: Simple chronic silicosis, the most common type of silicosis, results from long-term exposure (usually more than 20years) to low amounts of silica dust. Simple chronic silicosismay causepeople to have difficulty breathing. Accelerated silicosis occurs after 5 to 15 yearsof exposure of higher levels of silica.Swelling of the lungsand other symptoms occur faster in this type of silicosis than in the simple chronic form. Acute silicosis results from short-term exposure (weeks or months) of large amounts of silica.The lungs become very inflamed and can fill with fluid, causing severe shortness of breath and low blood oxygen levels. A cough, weight loss, and fatigue may also be present. Acute silicosis progresses rapidly and can be fatal within months. People who work in jobs where they are exposed to silica dust (mining, quarrying, construction, sand blasting, stone cutting) are at risk of developing this condition.	UMLS:C0037116|SNOMEDCT:805002|MESH:D012829|DOID:10325|NCIT:C3369
MONDO:0017949	ABeta amyloidosis, Arctic type	biolink:Disease	mondo	ICD10:E85.4+|ICD10:I68.0*|Orphanet:324723	ordo_clinical_subtype	ABetaE22G amyloidosis|hereditary cerebral hemorrhage with amyloidosis, Arctic type|cerebral amyloid angiopathy, APP-related, Arctic variant|HCHWA, Arctic type	http://purl.obolibrary.org/obo/MONDO_0017949	Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages.	ORPHA:324723
UBERON:0012168	umbilical cord blood	biolink:AnatomicalEntity	mondo			fetal blood|cord blood|umbilical cord blood	http://purl.obolibrary.org/obo/UBERON_0012168	blood that remains in the placenta and in the attached umbilical cord after childbirth[WP].	
MONDO:0017956	mixed autoinflammatory and autoimmune syndrome	biolink:Disease	mondo	Orphanet:324933|UMLS:CN204102	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017956		ORPHA:324933|UMLS:CN204102
MONDO:0017957	unclassified autoinflammatory syndrome	biolink:Disease	mondo	Orphanet:324936|UMLS:CN204103	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017957		ORPHA:324936|UMLS:CN204103
MONDO:0042902	Say-Carpenter syndrome	biolink:Disease	mondo	GARD:0000240	gard_rare	Say Carpenter syndrome|metaphyseal dysplasia hypertelorism hypospadias	http://purl.obolibrary.org/obo/MONDO_0042902		
MONDO:0017958	magic syndrome	biolink:Disease	mondo	UMLS:CN204105|Orphanet:324972|GARD:0013371	ordo_disease	mouth and genital ulcers with inflamed cartilage	http://purl.obolibrary.org/obo/MONDO_0017958		ORPHA:324972|UMLS:CN204105
MONDO:0017959	obsolete JMP syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0017959		
HGNC:9349	PRDM5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9349		
MONDO:0017952	non-familial rare disease with dilated cardiomyopathy	biolink:Disease	mondo	Orphanet:324767|UMLS:CN204097	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017952		UMLS:CN204097|ORPHA:324767
MONDO:0017953	hereditary periodic fever syndrome	biolink:Disease	mondo	Orphanet:324924|ICD10:E85.0|MESH:D056660|UMLS:CN204099	ordo_group_of_disorders	hereditary periodic fever syndrome	http://purl.obolibrary.org/obo/MONDO_0017953	An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome.	ORPHA:324924|MESH:D056660|UMLS:CN204099
MONDO:0017954	pyogenic autoinflammatory syndrome	biolink:Disease	mondo	Orphanet:324927|UMLS:CN204100	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017954		ORPHA:324927|UMLS:CN204100
MONDO:0017955	granulomatous autoinflammatory syndrome	biolink:Disease	mondo	Orphanet:324930|UMLS:CN204101	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017955		ORPHA:324930|UMLS:CN204101
GO:0061844	antimicrobial humoral immune response mediated by antimicrobial peptide	biolink:OntologyClass	mondo			peptide-mediated antimicrobial humoral response|antimicrobial peptide-mediated antimicrobial humoral response	http://purl.obolibrary.org/obo/GO_0061844	An immune response against microbes mediated by anti-microbial peptides in body fluid.	
NCBITaxon:2662056	Retaria	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2662056		
GO:0048869	cellular developmental process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0048869	A biological process whose specific outcome is the progression of a cell over time from an initial condition to a later condition.	
HGNC:9343	PRCC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9343		
MONDO:0017950	microcephalic primordial dwarfism	biolink:Disease	mondo	DC:0000561|UMLS:CN437676|ICD10:Q87.1|Orphanet:324761	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017950		UMLS:CN437676|ORPHA:324761
MONDO:0017951	trichorhinophalangeal syndrome	biolink:Disease	mondo	SCTID:18077009|OMIMPS:190350|UMLS:C0265255|ICD10:Q87.8|Orphanet:324764|ICD9:759.89	ordo_group_of_disorders	TRPS	http://purl.obolibrary.org/obo/MONDO_0017951		UMLS:C0265255|SNOMEDCT:18077009|ORPHA:324764
MONDO:0005959	sick building syndrome	biolink:Disease	mondo	EFO:0007484|UMLS:C0037050|SCTID:19076009|DOID:2710|MESH:D018877			http://purl.obolibrary.org/obo/MONDO_0005959	A group of symptoms that are two- to three-fold more common in those who work in large, energy-efficient buildings, associated with an increased frequency of headaches, lethargy, and dry skin. Clinical manifestations include hypersensitivity pneumonitis (alveolitis, extrinsic allergic); allergic rhinitis (rhinitis, allergic, perennial); asthma; infections, skin eruptions, and mucous membrane irritation syndromes. Current usage tends to be less restrictive with regard to the type of building and delineation of complaints. (From Segen, Dictionary of Modern Medicine, 1992)	SNOMEDCT:19076009|DOID:2710|MESH:D018877|UMLS:C0037050
NCBITaxon:10372	Human betaherpesvirus 7	organism taxon	mondo	GC_ID:1		HHV-7|human herpesvirus 7 HHV-7|Human herpesvirus 7|Herpes simplex virus 7|Human herpesvirus type 7	http://purl.obolibrary.org/obo/NCBITaxon_10372		
MONDO:0042908	Schaap-Taylor-Baraitser syndrome	biolink:Disease	mondo	GARD:0000248	gard_rare	Schaap Taylor Baraitser syndrome|cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature	http://purl.obolibrary.org/obo/MONDO_0042908		
GO:0048872	homeostasis of number of cells	biolink:OntologyClass	mondo			homeostasis of cell number|cell population homeostasis	http://purl.obolibrary.org/obo/GO_0048872	Any biological process involved in the maintenance of the steady-state number of cells within a population of cells.	
MONDO:0005978	theileriasis	biolink:Disease	mondo	EFO:0007506|MESH:D013801|ICD9:136.8|SCTID:68771000|DOID:3733|UMLS:C0039753		infection by Theileria|theileriosis	http://purl.obolibrary.org/obo/MONDO_0005978	Infection of cattle, sheep, or goats with protozoa of the genus theileria. This infection results in an acute or chronic febrile condition.	UMLS:C0039753|SNOMEDCT:68771000|MESH:D013801|DOID:3733
MONDO:0003315	endometrium carcinoma in situ	biolink:Disease	mondo	DOID:5172|ICD9:233.2|SCTID:92582009|UMLS:C0346191|ICD10:D07.0		endometrial carcinoma in situ|stage 0 endometrium carcinoma|endometrium in situ carcinoma|carcinoma in situ of endometrium	http://purl.obolibrary.org/obo/MONDO_0003315	A carcinoma in situ involving a endometrium.	UMLS:C0346191|SNOMEDCT:92582009|DOID:5172
CHEBI:25985	phenylalanine derivative	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_25985	An amino acid derivative resulting from reaction of alanine at the amino group or the carboxy group, or from the replacement of any hydrogen of phenylalanine  by a heteroatom. The definition normally excludes peptides containing phenylalanine  residues.	
MONDO:0005977	tabes dorsalis	biolink:Disease	mondo	MESH:D013606|ICD9:094.0|GARD:0008730|DOID:10027|NCIT:C35057|COHD:373962|EFO:0007505|UMLS:C0039223|ICD10:A52.11|SCTID:316841006		tabes dorsalis - neurosyphilis|syphilitic myelopathy|posterior spinal sclerosis	http://purl.obolibrary.org/obo/MONDO_0005977	A form of neurosyphilis characterized by slowly progressive degeneration of the spinal cord. Signs and symptoms include pain, ataxia, loss of coordination, personality changes, blindness, urinary incontinence, dementia, and degeneration of the joints.	UMLS:C0039223|NCIT:C35057|MESH:D013606|SNOMEDCT:316841006|DOID:10027
MONDO:0003316	nonanaplastic kidney Wilms tumor	biolink:Disease	mondo	NCIT:C6951|UMLS:C1335062		Nonanaplastic renal Wilms tumor|Nonanaplastic renal Wilms' tumor|Nonanaplastic renal Wilm's tumor|Nonanaplastic kidney Wilms tumor|nonanaplastic renal Wilms tumor	http://purl.obolibrary.org/obo/MONDO_0003316	Wilms tumor of the kidney characterized by the absence of nuclear anaplasia.	UMLS:C1335062|NCIT:C6951
GO:0048873	homeostasis of number of cells within a tissue	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0048873	Any biological process involved in the maintenance of the steady-state number of cells within a population of cells in a tissue.	
MONDO:0003317	metachronous kidney Wilms' tumor	biolink:Disease	mondo	NCIT:C38158|DOID:5178|UMLS:C1334705		metachronous Wilms tumor|metachronous Wilms tumor of the kidney|metachronous Wilms' tumor	http://purl.obolibrary.org/obo/MONDO_0003317	Wilms tumor arising in the remaining kidney following treatment of the original Wilms tumor.	UMLS:C1334705|DOID:5178|NCIT:C38158
MONDO:0003318	mixed cell type kidney Wilms' tumor	biolink:Disease	mondo	UMLS:C0279611|NCIT:C9149|DOID:5179		mixed cell type renal Wilms' tumor|mixed cell type kidney Wilms tumor|mixed cell type renal adenosarcoma|mixed cell type kidney adenosarcoma|mixed cell type renal Wilm's tumor|mixed cell type nephroblastoma|mixed cell type renal Wilms tumor|Mixed cell type Wilms tumor	http://purl.obolibrary.org/obo/MONDO_0003318	Wilms tumor of the kidney characterized by the presence of blastema, epithelial, and mesenchymal components (triphasic pattern) or a combination of two of them (biphasic pattern).	DOID:5179|UMLS:C0279611|NCIT:C9149
MONDO:0005979	thoracic outlet syndrome	biolink:Disease	mondo	UMLS:C0039984|EFO:0007507|SCTID:128210009|MESH:D013901|ICD10:G54.0|NCIT:C85188|Orphanet:97330|DOID:3103|MedDRA:10048627	ordo_disease	thoracic outlet compression syndrome|TOS|TOS - thoracic outlet syndrome	http://purl.obolibrary.org/obo/MONDO_0005979	A syndrome resulting from the compression of the blood vessels or nerves in the space between the clavicle and first rib (thoracic outlet). It is caused by car accident injuries or repetitive job or sport-related injuries. Signs and symptoms include pain in the shoulders and neck, numbness in the fingers, and weakening grip.	MEDDRA:10048627|UMLS:C0039984|ORPHA:97330|MESH:D013901|DOID:3103|NCIT:C85188|SNOMEDCT:128210009
GO:0048875	chemical homeostasis within a tissue	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0048875	Any process involved in the maintenance of the internal steady state of the amount of a chemical at the level of the tissue.	
OBO:exo.obo#interacts_with_an_exposure_receptor_via	interacts_with_an_exposure_receptor_via	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/exo.obo#interacts_with_an_exposure_receptor_via		
MONDO:0005974	strongyloidiasis	biolink:Disease	mondo	SCTID:187176005|DOID:10955|UMLS:C0348996|GARD:0008195|ICD10:B78.1|ICD10:B78.0|ICD10:B78|NCIT:C128398|EFO:0007501|Orphanet:76|UMLS:C0038463|ICD9:127.2|UMLS:C0085810|ICD10:B78.9|ICD10:B78.7|MedDRA:10042254|MESH:D013322	ordo_disease	Anguillulosis|Anguilluliasis|infection by Strongyloides|disseminated strongyloidiasis	http://purl.obolibrary.org/obo/MONDO_0005974	An infection that is caused by nematodes of the genus Strongyloides, most commonly Strongyloides stercoralis, which is a soil-transmitted helminth, and which is characterized by a variety of gastrointestinal, dermatologic, and, occasionally, pulmonary manifestations. The worm's autoinfective life cycle can lead to hyper-infection and life-threatening dissemination in immunocompromised hosts decades after initial infection.	DOID:10955|MESH:D013322|UMLS:C0085810|UMLS:C0038463|NCIT:C128398|ORPHA:76|UMLS:C0348996|MEDDRA:10042254|SNOMEDCT:187176005
MONDO:0003311	endometrial stromal tumor	biolink:Disease	mondo	SCTID:446887007|MESH:D036821|UMLS:C0334695|ICD9:239.5|DOID:5166|EFO:1000920		endometrial stromal tumor|tumor of endometrial stroma|endometrial stroma neoplasm|endometrial stromal neoplasm|neoplasm of endometrial stroma|endometrial stromal tumor (morphologic abnormality)|endometrial stroma tumor	http://purl.obolibrary.org/obo/MONDO_0003311	Neoplasms of the endometrial stroma that sometimes involve the myometrium. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (sarcoma, endometrial stromal).	UMLS:C0334695|DOID:5166|SNOMEDCT:446887007|MESH:D036821
UBERON:0012152	skeleton of pedal digitopodium	biolink:AnatomicalEntity	mondo			pedal digitopodium	http://purl.obolibrary.org/obo/UBERON_0012152	A subdivision of the pes skeleton consisting of both pedal acropodial skeleton and metatarsal skeleton, but excluding the tarsal skeleton.	
MONDO:0003312	ovarian endometrioid stromal and related neoplasms	biolink:Disease	mondo	DOID:5169|UMLS:C4288544|NCIT:C40065		ovarian endometrioid stromal sarcoma|endometrioid stromal and related neoplasms of ovary|ovary endometrioid stromal and related neoplasms|ovarian endometrioid stromal and related neoplasms	http://purl.obolibrary.org/obo/MONDO_0003312	A category of rare neoplasms that arise from the ovary. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma.	NCIT:C40065|DOID:5169|UMLS:C4288544
MONDO:0005973	Strongylida infectious disease	biolink:Disease	mondo	MESH:D017206|EFO:0007500			http://purl.obolibrary.org/obo/MONDO_0005973	Infections with nematodes of the order strongylida.	MESH:D017206
UBERON:0012151	skeleton of manual digitopodium	biolink:AnatomicalEntity	mondo			manual digitopodium	http://purl.obolibrary.org/obo/UBERON_0012151	A subdivision of the manus skeleton consisting of both manual acropodial skeleton and metacarpal skeleton, but excluding the carpal skeleton.	
HGNC:9350	PRDM6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9350		
MONDO:0003313	endometrioid stromal sarcoma of the vagina	biolink:Disease	mondo	DOID:5170|UMLS:C3642329|NCIT:C40270		endometrioid stromal sarcoma of vagina|endometrioid stromal sarcoma of the vagina|vagina endometrioid stromal sarcoma|vaginal endometrial stromal sarcoma	http://purl.obolibrary.org/obo/MONDO_0003313	A rare sarcoma that arises from the vagina. This category includes low grade endometrioid stromal sarcoma and undifferentiated vaginal sarcoma.	NCIT:C40270|DOID:5170|UMLS:C3642329
MONDO:0005976	syphilis	biolink:Disease	mondo	COHD:436033|NCIT:C35055|DOID:4166|MedDRA:10062120|SCTID:76272004|EFO:0007504|ICD10:A51.0|ICD9:097.9|MESH:D013587		Treponema pallidum infectious disease|Treponema pallidum caused disease or disorder|Treponema pallidum disease or disorder|syphilitic chancre	http://purl.obolibrary.org/obo/MONDO_0005976	A contagious bacterial infection caused by the spirochete Treponema pallidum. It is a sexually transmitted disorder, although it can also be transmitted from the mother to the fetus in utero. Typically, it is initially manifested with a single sore which heals without treatment. If the infection is left untreated, the initial stage is followed by skin rash and mucous membrane lesions. A late stage follows, which is characterized by damage of the internal organs, including the nervous system.	NCIT:C35055|DOID:4166|MESH:D013587|SNOMEDCT:76272004
UBERON:0012150	skeleton of digitopodium	biolink:AnatomicalEntity	mondo			digitopodium|skeleton of digits	http://purl.obolibrary.org/obo/UBERON_0012150	A subdivision of the autopod skeleton consisting of both acropodial skeleon and metapodial skeleton, but excluding the mesopodial/basopodial skeleton.	
GO:0048878	chemical homeostasis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0048878	Any biological process involved in the maintenance of an internal steady state of a chemical.	
MONDO:0003314	endometrioid stromal and related neoplasms of the vagina	biolink:Disease	mondo	UMLS:C4289585|NCIT:C40269|DOID:5171		endometrioid stromal and related tumors of the vagina|vaginal endometrial stromal tumor|vagina endometrioid stromal and related neoplasms|endometrioid stromal and related neoplasms of the vagina|endometrioid stromal and related neoplasms of vagina	http://purl.obolibrary.org/obo/MONDO_0003314	A category of rare neoplasms that arise from the vagina. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma.	NCIT:C40269|DOID:5171|UMLS:C4289585
MONDO:0005975	suppurative otitis media	biolink:Disease	mondo	SCTID:39288006|DOID:11506|COHD:376712|ICD10:H66|EFO:0007503|ICD10:H66.40|ICD9:382|UMLS:C0029888|MESH:D010035|ICD10:H66.4|ICD9:382.4		purulent otitis media|otitis media with effusion - purulent	http://purl.obolibrary.org/obo/MONDO_0005975	Inflammation of the middle ear with purulent discharge.	SNOMEDCT:39288006|MESH:D010035|DOID:11506|UMLS:C0029888
MONDO:0005970	staphylococcal pneumonia	biolink:Disease	mondo	MESH:D011023|ICD9:482.49|COHD:259852|ICD9:482.4|EFO:0007496|ICD9:482.40|SCTID:22754005		Staphylococcus caused pneumonia|Staphylococcus pneumonia	http://purl.obolibrary.org/obo/MONDO_0005970	Pneumonia caused by infections with bacteria of the genus staphylococcus, usually with staphylococcus aureus.	MESH:D011023|SNOMEDCT:22754005
NCBITaxon:1716	Corynebacterium	organism taxon	mondo	PMID:10425754|PMID:8186090|GC_ID:11|PMID:30186281|PMID:29760685|PMID:7547284|PMID:7547293|PMID:19661509|PMID:7547291		Turicella	http://purl.obolibrary.org/obo/NCBITaxon_1716		
NCBITaxon:1717	Corynebacterium diphtheriae	organism taxon	mondo	GC_ID:11|PMID:7729671		Pacinia loeffleri|Microsporon diphthericum|Mycobacterium diphtheriae|Microsporon diphtheriticum|Bacterium diphtheriae|Bacillus diphtheriae	http://purl.obolibrary.org/obo/NCBITaxon_1717		
MONDO:0005972	streptococcal pneumonia	biolink:Disease	mondo	SCTID:233607000|ICD10:J13|ICD9:482.39|EFO:0007499|MESH:D011018|ICD9:482.30|ICD9:481|DOID:0040084|UMLS:C0155862		Streptococcus pneumoniae pneumonia|streptococcal pneumonia|Streptococcus pneumoniae caused pneumonia|pneumonia due to streptococcus|pneumonia caused by streptococcus|pneumococcal pneumonia|Streptococcus pneumonia	http://purl.obolibrary.org/obo/MONDO_0005972	A febrile disease caused by streptococcus pneumoniae.	MESH:D011018|SNOMEDCT:233607000|UMLS:C0155862|DOID:0040084
MONDO:0005971	staphyloenterotoxemia	biolink:Disease	mondo	NCIT:C35037|ICD9:005.0|SCTID:84622004|UMLS:C0038159|GARD:0009559|DOID:96|EFO:0007497|MESH:D013202|ICD10:A05.0		staphylococcal food poisoning|staphylococcal toxaemia due to food|staphyloenterotoxicosis	http://purl.obolibrary.org/obo/MONDO_0005971	Food poisoning that is caused by Staphylococcal infection.	UMLS:C0038159|MESH:D013202|SNOMEDCT:84622004|DOID:96|NCIT:C35037
MONDO:0003310	Monckeberg arteriosclerosis	biolink:Disease	mondo	DOID:5161|NCIT:C35770|UMLS:C0887866		Mönckeberg arteriosclerosis	http://purl.obolibrary.org/obo/MONDO_0003310	A type of arteriosclerosis in which calcification of the tunica media is the predominant feature.	UMLS:C0887866|DOID:5161|NCIT:C35770
UBERON:0036146	cardiopharyngeal field	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0036146	An region of the mesoderm that includes anterior lateral mesoderm of the first heart field plus contiguous pharyngeal mesoderm that gives rise to second-heart-field-derived regions of the heart and branchiomeric muscles.	
MONDO:0017938	obsolete X-linked cleft palate and ankyloglossia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0017938		
MONDO:0017939	classic multiminicore myopathy	biolink:Disease	mondo	UMLS:CN204085|ICD10:G71.2|Orphanet:324604	ordo_clinical_subtype	classic multiminicore disease|classic MmD	http://purl.obolibrary.org/obo/MONDO_0017939		UMLS:CN204085|ORPHA:324604
GO:0048870	cell motility	biolink:OntologyClass	mondo			cell locomotion|movement of a cell|cell movement	http://purl.obolibrary.org/obo/GO_0048870	Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another.	
GO:0048871	multicellular organismal homeostasis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0048871	Any process involved in the maintenance of an internal steady state at the level of the multicellular organism.	
MONDO:0017945	ABetaL34V amyloidosis	biolink:Disease	mondo	ICD10:E85.4+|Orphanet:324703|ICD10:I68.0*	ordo_clinical_subtype	HCHWA, Piedmont type|ABeta amyloidosis, Piedmont type|hereditary cerebral hemorrhage with amyloidosis, Piedmont type|ABetaL34V-related amyloidosis	http://purl.obolibrary.org/obo/MONDO_0017945	Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline.	ORPHA:324703
UBERON:0000170	pair of lungs	biolink:AnatomicalEntity	mondo			pulmones|lungs|lungs pair|set of lungs	http://purl.obolibrary.org/obo/UBERON_0000170	The pair of anatomical structures comprised of a left lung and right lung.	
MONDO:0042912	Schlegelberger-Grote syndrome	biolink:Disease	mondo	MESH:C536635|GARD:0000255|UMLS:C2931273	gard_rare	syndrome with triphalangia of thumbs, thrombasthenia Glanzmann and deafness of internal ear|triphalangeal thumbs thrombocytopathy deafness|Schlegelberger Grote syndrome	http://purl.obolibrary.org/obo/MONDO_0042912		MESH:C536635|UMLS:C2931273
MONDO:0042913	Schrander-stumpel-Theunissen-Hulsmans syndrome	biolink:Disease	mondo	UMLS:C2931275|GARD:0000256|MESH:C536639	gard_rare	vitiligo, psychomotor retardation, cleft palate and facial dysmorphism|vitiligo vulgaris, cleft palate, somatic and psychomotor retardation and facial dysmorphism|Schrander-Stumpel Theunissen Hulsmans syndrome	http://purl.obolibrary.org/obo/MONDO_0042913		MESH:C536639|UMLS:C2931275
MONDO:0017946	ABeta amyloidosis, Iowa type	biolink:Disease	mondo	ICD10:I68.0*|Orphanet:324708|ICD10:E85.4+	ordo_clinical_subtype	ABetaD23N amyloidosis|cerebral amyloid angiopathy, APP-related, Iowa variant|HCHWA, Iowa type|hereditary cerebral hemorrhage with amyloidosis, Iowa type	http://purl.obolibrary.org/obo/MONDO_0017946	Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages.	ORPHA:324708
UBERON:0000171	respiration organ	biolink:AnatomicalEntity	mondo			breathing organ|organ of apparatus respiratorius|organ of respiratory system|apparatus respiratorius organ|respiratory organ|respiratory system organ|gas exchange organ	http://purl.obolibrary.org/obo/UBERON_0000171	Organ that functions in gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms.	
MONDO:0017947	ABeta amyloidosis, Italian type	biolink:Disease	mondo	ICD10:E85.4+|Orphanet:324713|ICD10:I68.0*	ordo_clinical_subtype	hereditary cerebral hemorrhage with amyloidosis, Italian type|HCHWA, Italian type|cerebral amyloid angiopathy, APP-related, Italian variant|ABetaE22K amyloidosis	http://purl.obolibrary.org/obo/MONDO_0017947	Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage.	ORPHA:324713
HGNC:9359	SLC26A5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9359		
CHEBI:37962	adrenergic agent	biolink:ChemicalSubstance	mondo			adrenergics|adrenergic neuron agents|adrenergic drug|adrenergic agents|adrenergic drugs	http://purl.obolibrary.org/obo/CHEBI_37962	Any agent that acts on an adrenergic receptor or affects the life cycle of an adrenergic transmitter.	
MONDO:0017948	ABetaA21G amyloidosis	biolink:Disease	mondo	ICD10:I68.0*|Orphanet:324718|ICD10:E85.4+	ordo_clinical_subtype	cerebral amyloid angiopathy, APP-related, Flemish variant|ABetaA21G-related amyloidosis|hereditary cerebral hemorrhage with amyloidosis, Flemish type|ABeta amyloidosis, Flemish type|HCHWA, Flemish type	http://purl.obolibrary.org/obo/MONDO_0017948	Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients.	ORPHA:324718
MONDO:0042915	Schmitt-Gillenwater-Kelly syndrome	biolink:Disease	mondo	GARD:0000258	gard_rare	radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema|Schmitt Gillenwater Kelly syndrome	http://purl.obolibrary.org/obo/MONDO_0042915		
UBERON:0000173	amniotic fluid	biolink:AnatomicalEntity	mondo			liquor amnii|acqua amnii	http://purl.obolibrary.org/obo/UBERON_0000173	Amniotic fluid is a bodily fluid consisting of watery liquid surrounding and cushioning a growing fetus within the amnion. It allows the fetus to move freely without the walls of the uterus being too tight against its body. Buoyancy is also provided. The composition of the fluid changes over the course of gestation. Initially, amniotic fluid is similar to maternal plasma, mainly water with electrolytes. As the fetus develops, proteins, carbohydrates, lipids, phospholipids originating from the lungs, fetal cells, and urea are deposited in the fluid.	
MONDO:0017941	chikungunya	biolink:Disease	mondo	MESH:D065632|Orphanet:324625|SCTID:111864006|NCIT:C128422|UMLS:C0008055|ICD10:A92.0|DOID:0050012|GARD:0006038	gard_rare|ordo_disease	Chikungunya virus infection|Chikungunya virus infectious disease|Chikungunya virus caused disease or disorder|Chikungunya virus disease or disorder|CHIKV infection|CK|arbovirus A Chikungunya type|CHIK|Chikungunya fever	http://purl.obolibrary.org/obo/MONDO_0017941	An infection that is caused by the Chikungunya virus, which is transmitted by mosquitoes; it is characterized by fever and severe arthralgia.	ORPHA:324625|DOID:0050012|UMLS:C0008055|SNOMEDCT:111864006|NCIT:C128422|MESH:D065632
MONDO:0017942	Hendra virus infection	biolink:Disease	mondo	ICD10:B33.8|Orphanet:324632	ordo_disease	Hendra henipavirus disease or disorder|Hendra henipavirus infectious disease|Hendra henipavirus caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0017942	Hendra virus infection is a rare viral infection disorder caused by the Hendra virus characterized by onset of flu-like symptoms (fever, myalgia, headaches, lethargy) approximately one week after having been in close contact with bodily fluids of infected horses. Neurological manifestations (e.g. vertigo, confusion, ataxia) and progressive respiratory failure, leading to death, have also been reported.	ORPHA:324632
MONDO:0017943	autoerythrocyte sensitization syndrome	biolink:Disease	mondo	GARD:0006481|UMLS:C0301928|ICD9:287.2|Orphanet:324636|MESH:C535645|SCTID:275446004|ICD10:D69.2	ordo_disease	GDS|Gardner-Diamond syndrome|psychogenic purpura|painful bruising syndrome|Autoerythrocyte sensitization purpura|Autoerythrocyte sensitization	http://purl.obolibrary.org/obo/MONDO_0017943		ORPHA:324636|SNOMEDCT:275446004|MESH:C535645|UMLS:C0301928
MONDO:0017944	invasive non-typhoidal salmonellosis	biolink:Disease	mondo	ICD10:A02.2|ICD10:A02.1|ICD10:A02.0|SCTID:763772002|Orphanet:324648|ICD10:A02.9|ICD10:A02.8	ordo_disease	invasive non-typhoidal salmonella disease|iNTS disease	http://purl.obolibrary.org/obo/MONDO_0017944	Invasive non-typhoidal salmonellosis (iNTS) is a rare bacterial infectious disease caused by extraintestinal infection of non-typhoidal serotypes of Salmonella enterica in patients with underlying HIV infection, malaria or malignancy. It has a high mortality rate and patients typically present with fever, pallor and respiratory signs (cough, tachnypnea, pneumonia). Gastrointestinal manifestations (diarrhea, vomit, abdominal pain) are not common. Occasionally, organ absseses, septic shock and meningitis may be observed.	ORPHA:324648|SNOMEDCT:763772002
MONDO:0042911	Schwartz-Cohen-addad-Lambert syndrome	biolink:Disease	mondo	GARD:0000253|MESH:C535835|UMLS:C2931036	gard_rare	Schwartz Cohen-Addad Lambert syndrome|congenital melanocytosis with myelomeningocele and hydrocephalus	http://purl.obolibrary.org/obo/MONDO_0042911		MESH:C535835|UMLS:C2931036
UBERON:0000178	blood	biolink:AnatomicalEntity	mondo			vertebrate blood|whole blood|portion of blood	http://purl.obolibrary.org/obo/UBERON_0000178	A fluid that is composed of blood plasma and erythrocytes.	
UBERON:0000179	haemolymphatic fluid	biolink:AnatomicalEntity	mondo			blood or blood analog|circulating fluid	http://purl.obolibrary.org/obo/UBERON_0000179	Circulating fluid that is part of the hemolymphoid system. Blood, lymph, interstitial fluid or its analogs.	
MONDO:0017940	autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation	biolink:Disease	mondo	ICD10:G60.0|Orphanet:324611|UMLS:CN204086|SCTID:764730007	ordo_disease	CMT2 due to KIF5A mutation	http://purl.obolibrary.org/obo/MONDO_0017940	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms.	ORPHA:324611|SNOMEDCT:764730007|UMLS:CN204086
MONDO:0003308	pleural mesothelioma	biolink:Disease	mondo	ONCOTREE:PLMESO|HP:0100002|DOID:5157|SCTID:109372009|NCIT:C9351|EFO:1000485		benign pleural mesothelioma|pleural mesothelioma (disease)|pleura mesothelioma|pleural mesothelioma (disease), benign|mesothelioma of the pleura|pleural mesothelioma|mesothelioma of pleura	http://purl.obolibrary.org/obo/MONDO_0003308	A neoplasm that arises from the mesothelial cells of the pleura. The primary cause is exposure to asbestos. The major histologic variants are the epithelioid malignant mesothelioma, desmoplastic malignant mesothelioma, and sarcomatoid malignant mesothelioma. Patients present with persistent cough and shortness of breath.	DOID:5157|SNOMEDCT:109372009|NCIT:C9351
UBERON:0000174	excreta	biolink:AnatomicalEntity	mondo			excretion|portion of excreted substance|excreted substance|waste substance	http://purl.obolibrary.org/obo/UBERON_0000174	A portion of organism substance that is the product of an excretion process that will be eliminated from the body. An excretion process is elimination by an organism of the waste products that arise as a result of metabolic activity	
MONDO:0003309	obsolete pleural cancer	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003309		
MONDO:0005945	rhinoscleroma	biolink:Disease	mondo	SCTID:72409005|UMLS:C0035468|ICD9:040.1|DOID:11336|EFO:0007470|MESH:D012226			http://purl.obolibrary.org/obo/MONDO_0005945	A granulomatous disease caused by klebsiella rhinoscleromatis infection. Despite its name, this disease is not limited to the nose and nasopharynx but may affect any part of the respiratory tract, sometimes with extension to the lip and the skin.	UMLS:C0035468|DOID:11336|SNOMEDCT:72409005|MESH:D012226
MONDO:0005944	Rhabdoviridae infectious disease	biolink:Disease	mondo	MESH:D018353|EFO:0007469|UMLS:C0206751		Rhabdoviridae infection|infections, Rhabdoviridae|infection, Rhabdoviridae	http://purl.obolibrary.org/obo/MONDO_0005944	Virus diseases caused by rhabdoviridae. Important infections include rabies; ephemeral fever; and vesicular stomatitis.	UMLS:C0206751|MESH:D018353
UBERON:0036150	skin appendage follicle	biolink:AnatomicalEntity	mondo			follicle|cutaneous appendage follicle|skin follicle	http://purl.obolibrary.org/obo/UBERON_0036150	An organ subunit in the skin that gives rise to cutaneous appendage.	
MONDO:0005947	rickettsial pneumonia	biolink:Disease	mondo	ICD9:484.8|EFO:0007472|SCTID:233621003|MESH:D011022|UMLS:C0032307		Rickettsiaceae caused pneumonia|Rickettsiaceae pneumonia	http://purl.obolibrary.org/obo/MONDO_0005947	Pneumonia caused by infection with bacteria of the family rickettsiaceae.	SNOMEDCT:233621003|UMLS:C0032307|MESH:D011022
MONDO:0005946	rhinosporidiosis	biolink:Disease	mondo	MESH:D012227|ICD9:117.0|UMLS:C0035469|EFO:0007471|COHD:438364|DOID:2409|ICD10:B48.1|SCTID:18140003	clingen	Rhinosporidium seeberi disease or disorder|Rhinosporidium seeberi infectious disease|Rhinosporidium seeberi caused disease or disorder|infection by Rhinosporidium seeberi|Rhinosporidioses	http://purl.obolibrary.org/obo/MONDO_0005946	Chronic, localized granulomatous infection of mucocutaneous tissues, especially the nose, and characterized by hyperplasia and the development of polyps. It is found in humans and other animals and is caused by the mesomycetozoean organism rhinosporidium seeberi.	UMLS:C0035469|DOID:2409|SNOMEDCT:18140003|MESH:D012227
MONDO:0005941	retroperitoneal cancer	biolink:Disease	mondo	ICD9:158.0|ICD9:158|ICD10:C48.0|ICD10:C48|MESH:D012186|DOID:5875|SCTID:126872008|NCIT:C3537|EFO:0007466		tumor of retroperitoneum|malignant neoplasm of retroperitoneum and peritoneum|malignant neoplasm of retroperitoneum|malignant neoplasm of retroperitoneal space|malignant tumor of peritoneum and retroperitoneum|malignant retroperitoneal neoplasm|malignant retroperitoneal space neoplasm|retroperitoneal space cancer|neoplasm of the retroperitoneum|malignant retroperitoneal cancer|neoplasm of retroperitoneum|cancer of retroperitoneal space|retroperitoneal neoplasm	http://purl.obolibrary.org/obo/MONDO_0005941	A primary or metastatic malignant neoplasm involving the retroperitoneum. The vast majority of cases are carcinomas, lymphomas, or sarcomas.	NCIT:C3537|MESH:D012186|DOID:5875|SNOMEDCT:126872008
HGNC:9360	PRF1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9360		
UBERON:0012141	manual digitopodium region	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0012141	A digitopodium region that is part of a manus[Obol]. This includes the fingers and metacarpal region, but excludes the carpal region.	
MONDO:0005940	respirovirus infectious disease	biolink:Disease	mondo	MESH:D010253|UMLS:C3714630|EFO:0007465		infections, Respirovirus	http://purl.obolibrary.org/obo/MONDO_0005940	Infections with viruses of the genus respirovirus, family paramyxoviridae. Host cell infection occurs by adsorption, via hemagglutinin, to the cell surface.	UMLS:C3714630|MESH:D010253
UBERON:0012140	digitopodium region	biolink:AnatomicalEntity	mondo			acropodium (Wagner)	http://purl.obolibrary.org/obo/UBERON_0012140	A segment of the autopod consisting of both acropodial region and metapodial region, but excluding the mesopodial/basopodial region.	
NCBITaxon:10357	Betaherpesvirinae	organism taxon	mondo	GC_ID:1		Betaherpesviruses	http://purl.obolibrary.org/obo/NCBITaxon_10357		
MONDO:0005943	Rhabditida infectious disease	biolink:Disease	mondo	GARD:0008203|UMLS:C0162631|EFO:0007468|MESH:D017196		infection, Rhabditida|infections, Rhabditida|Rhabditida infections|Rhabditida infection	http://purl.obolibrary.org/obo/MONDO_0005943	Infections with nematodes of the order rhabditida.	MESH:D017196|UMLS:C0162631
CHEBI:50910	neurotoxin	biolink:ChemicalSubstance	mondo			neurotoxins|neurotoxicant|nerve poisons|agente neurotoxico|neurotoxic agents|neurotoxic agent|nerve poison	http://purl.obolibrary.org/obo/CHEBI_50910	A poison that interferes with the functions of the nervous system.	
NCBITaxon:10358	Cytomegalovirus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_10358		
MONDO:0005942	Reye syndrome	biolink:Disease	mondo	COHD:375241|Orphanet:3096|ICD9:331.81|ICD10:G93.7|NCIT:C34983|SCTID:74351001|GARD:0007570|UMLS:C0035400|MedDRA:10039012|DOID:14525|MESH:D012202|EFO:0007467	ordo_disease	Reye's syndrome	http://purl.obolibrary.org/obo/MONDO_0005942	An acute and potentially fatal metabolic disorder characterized by cerebral edema, fatty liver and hypoglycemia. It occurs primarily in children and has been associated with the use of aspirin for the treatment of viral infections. However, it can also occur in the absence of aspirin use.	ORPHA:3096|SNOMEDCT:74351001|MESH:D012202|DOID:14525|NCIT:C34983|UMLS:C0035400|MEDDRA:10039012
UBERON:0012142	pedal digitopodium region	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0012142	A digitopodium region that is part of a pes[Obol]. This includes the toes and metatarsal region, but excludes the tarsals region.	
MONDO:0017927	severe lateral tibial bowing with short stature	biolink:Disease	mondo	UMLS:CN204066|ICD10:Q68.4|SCTID:766819001|Orphanet:324307	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017927	Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities.	UMLS:CN204066|ORPHA:324307|SNOMEDCT:766819001
MONDO:0017928	9p13 microdeletion syndrome	biolink:Disease	mondo	Orphanet:324313|UMLS:CN204067|ICD10:Q93.5|SCTID:764725008	ordo_malformation_syndrome	monosomy 9p13|Del(9)(p13)	http://purl.obolibrary.org/obo/MONDO_0017928	9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia).	SNOMEDCT:764725008|UMLS:CN204067|ORPHA:324313
GO:0048880	sensory system development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0048880	The process whose specific outcome is the progression of a sensory system over time from its formation to the mature structure.	
MONDO:0017929	congenital achiasma	biolink:Disease	mondo	Orphanet:324353|ICD10:H47.4|SCTID:734031008	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0017929	Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy.	ORPHA:324353|SNOMEDCT:734031008
MONDO:0017934	aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome	biolink:Disease	mondo	ICD10:Q87.0|Orphanet:324540|UMLS:CN204076	ordo_malformation_syndrome	aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome|aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome	http://purl.obolibrary.org/obo/MONDO_0017934	Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated.	UMLS:CN204076|ORPHA:324540
MONDO:0017935	hyperinsulinism due to HNF1A deficiency	biolink:Disease	mondo	Orphanet:324575|SCTID:721234004|ICD10:E16.1|UMLS:C4303475	ordo_disease	hyperinsulinemic hypoglycemia due to HNF1A deficiency	http://purl.obolibrary.org/obo/MONDO_0017935	Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1) later in life.	SNOMEDCT:721234004|ORPHA:324575|UMLS:C4303475
UBERON:0000160	intestine	biolink:AnatomicalEntity	mondo			intestinal tract|bowel	http://purl.obolibrary.org/obo/UBERON_0000160	Segment of the alimentary canal extending from the stomach to the anus and, in humans and other mammals, consists of two segments, the small intestine and the large intestine.	
MONDO:0042924	Vagneur-Triolle-Ripert syndrome	biolink:Disease	mondo	GARD:0000271	gard_rare	hypertelorism, short midface, arachnodactyly, coloboma of iris and delayed bone age|Vagneur Triolle Ripert syndrome	http://purl.obolibrary.org/obo/MONDO_0042924		
UBERON:0000161	orifice	biolink:AnatomicalEntity	mondo			ostium|anatomical ostium|anatomical orifice|hilum	http://purl.obolibrary.org/obo/UBERON_0000161	Anatomical conduit that connects two adjacent body spaces (or a body space with the space surrounding the organism)[FMA,modified].	
MONDO:0017936	benign Samaritan congenital myopathy	biolink:Disease	mondo	Orphanet:324581|ICD10:G71.2	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017936	Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.	ORPHA:324581
UBERON:0000162	cloaca	biolink:AnatomicalEntity	mondo			vent|cloacal chamber	http://purl.obolibrary.org/obo/UBERON_0000162	Common chamber into which the intestines and excretory system opens. Arises during development in all vertebrates, but in many it becomes subdivided, lost or incorporated into other structures	
MONDO:0017937	autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain	biolink:Disease	mondo	ICD10:G60.0|Orphanet:324585|UMLS:CN204081	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017937		UMLS:CN204081|ORPHA:324585
UBERON:0012139	segment of autopod	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0012139		
MONDO:0017930	mixed sclerosing bone dystrophy with extra-skeletal manifestations	biolink:Disease	mondo	ICD10:M85.8|Orphanet:324364	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017930		ORPHA:324364
MONDO:0017931	hereditary inclusion body myopathy type 4	biolink:Disease	mondo	ICD10:G71.8|Orphanet:324381|UMLS:CN227223	ordo_disease	HIBM4	http://purl.obolibrary.org/obo/MONDO_0017931	Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy.	ORPHA:324381|UMLS:CN227223
MONDO:0017932	muscular hypertrophy-hepatomegaly-polyhydramnios syndrome	biolink:Disease	mondo	UMLS:CN204070|Orphanet:324416	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0017932		ORPHA:324416|UMLS:CN204070
MONDO:0017933	hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation	biolink:Disease	mondo	UMLS:CN204073|Orphanet:324525|ICD10:I42.2	ordo_disease	hypertrophic cardiomyopathy and renal tubular disease due to mtDNA mutation	http://purl.obolibrary.org/obo/MONDO_0017933	Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure.	UMLS:CN204073|ORPHA:324525
UBERON:0000167	oral cavity	biolink:AnatomicalEntity	mondo			bucca|cavity of mouth|buccal cavity	http://purl.obolibrary.org/obo/UBERON_0000167	Anatomical cavity at the start of the digestive tract that that is enclosed by the mouth. The boundaries and contents vary depending on the species. In vertebrates, the boundaries are the oral opening, the cheeks, the palate and (if present) the palatoglossal arch - if this is not present then the mouth and pharynx form the oropharyngeal cavity. The buccal cavity contains the teeth, tongue and palate (when present)	
HGNC:9364	PRG4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9364		
UBERON:0000168	proximal-distal subdivision of colon	biolink:AnatomicalEntity	mondo			segment of colon	http://purl.obolibrary.org/obo/UBERON_0000168	A section dividing a colon along a proximal-distal axis.	
MONDO:0005938	renal tuberculosis	biolink:Disease	mondo	UMLS:C0041328|ICD9:016.0|COHD:193955|DOID:9733|EFO:0007463|ICD9:016.00|SCTID:44323002|MESH:D014398|NCIT:C123020		tuberculosis of kidney|kidney tuberculosis	http://purl.obolibrary.org/obo/MONDO_0005938	Infection of the kidney due to mycobacteria.	DOID:9733|NCIT:C123020|SNOMEDCT:44323002|MESH:D014398|UMLS:C0041328
UBERON:0000163	embryonic cloaca	biolink:AnatomicalEntity	mondo			cloaca	http://purl.obolibrary.org/obo/UBERON_0000163	endoderm-lined chamber that develops as pouch-like dilation of the caudal end of the hindgut and receives the allantois ventrally and two mesonephric ducts laterally; caudally it ends blindly at the cloacal membrane formed by the union of proctodeal (anal pit) ectoderm and cloacal endoderm, with no intervening mesoderm[MP].	
UBERON:0000164	primitive urogenital sinus	biolink:AnatomicalEntity	mondo			sinus urogenitalis|fetal UGS|UGS|urogenital sinus	http://purl.obolibrary.org/obo/UBERON_0000164	the ventral part of the cloaca remaining after septation of the rectum, which further develops into part of the bladder, part of the prostatic part of the male urethra and the urethra and vestibule in females	
MONDO:0005937	REM sleep behavior disorder	biolink:Disease	mondo	DOID:9091|ICD9:780.59|EFO:0007462|SCTID:415238003|MESH:D020187|ICD9:327.42|ICD10:G47.52		rapid eye movement sleep behavior disorder	http://purl.obolibrary.org/obo/MONDO_0005937	A disorder characterized by episodes of vigorous and often violent motor activity during rem sleep (sleep, rem). The affected individual may inflict self injury or harm others, and is difficult to awaken from this condition. Episodes are usually followed by a vivid recollection of a dream that is consistent with the aggressive behavior. This condition primarily affects adult males. (From Adams et al., Principles of Neurology, 6th ed, p393)	SNOMEDCT:415238003|DOID:9091|MESH:D020187
UBERON:0000165	mouth	biolink:AnatomicalEntity	mondo			cavum oris|adult mouth|cavital oralis|vestibule of mouth|cavitas oris|trophic apparatus|oral region|vestibulum oris|regio oralis|oral vestibule|stomatodaeum|rima oris|stoma|mouth cavity	http://purl.obolibrary.org/obo/UBERON_0000165	The proximal portion of the digestive tract, containing the oral cavity and bounded by the oral opening. In vertebrates, this extends to the pharynx and includes gums, lips, tongue and parts of the palate. Typically also includes the teeth, except where these occur elsewhere (e.g. pharyngeal jaws) or protrude from the mouth (tusks).	
UBERON:0000166	oral opening	biolink:AnatomicalEntity	mondo			oral orifice|oral part of face|oral fissure|mouth	http://purl.obolibrary.org/obo/UBERON_0000166	The orifice that connects the mouth to the exterior of the body.	
MONDO:0005939	Reoviridae infectious disease	biolink:Disease	mondo	MESH:D012088|EFO:0007464|UMLS:C0035112		infection, Reovirus|infections, Reoviridae|Reoviridae infection|infections, Reovirus|Reovirus infection|Reovirus infections|infection, Reoviridae	http://purl.obolibrary.org/obo/MONDO_0005939	Infections produced by reoviruses, general or unspecified.	UMLS:C0035112|MESH:D012088
MONDO:0005956	septicemic plague	biolink:Disease	mondo	SCTID:9012003|EFO:0007481|DOID:3481|ICD9:020.2|ICD10:A20.7|UMLS:C0152936			http://purl.obolibrary.org/obo/MONDO_0005956	A plague in which the bacteria have entered the bloodstream.	SNOMEDCT:9012003|UMLS:C0152936|DOID:3481
UBERON:0014790	lingual septum	biolink:AnatomicalEntity	mondo			septum of tongue|median fibrous septum|tongue septum|septum of tongue	http://purl.obolibrary.org/obo/UBERON_0014790	The lingual septum consists of a vertical layer of fibrous tissue, extending throughout the entire length of the median plane of the tongue, though not quite reaching the dorsum. It is thicker behind than in front, and occasionally contains a small fibrocartilage, about 6 mm. in length. It is well displayed by making a vertical section across the organ.	
MONDO:0005955	obsolete scrub typhus	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005955		
UBERON:0014791	musculature of forelimb stylopod	biolink:AnatomicalEntity	mondo			musculature of arm|set of muscles of arm|muscle group of arm|arm musculature	http://purl.obolibrary.org/obo/UBERON_0014791	Any collection of muscles that is part of the forelimb stylopod region [Automatically generated definition].	
MONDO:0005958	obsolete sex cord-stromal tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005958		
MONDO:0005957	setariasis	biolink:Disease	mondo	DOID:1079|UMLS:C0036850|SCTID:4414005|EFO:0007482|MESH:D012719		infectious disease by Setaria|Setaria <nematode> disease or disorder|Setaria <nematode> infectious disease|Setaria <nematode> caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005957	Infection with nematodes of the genus Setaria. This condition is usually seen in cattle and equines and is of little pathogenic significance, although migration of the worm to the eye may lead to blindness.	SNOMEDCT:4414005|MESH:D012719|UMLS:C0036850|DOID:1079
UBERON:0014792	musculature of pelvic complex	biolink:AnatomicalEntity	mondo			musculature of lower limb|musculi membri inferioris|muscles of lower limb	http://purl.obolibrary.org/obo/UBERON_0014792	Any collection of muscles that is part of a pelvic complex. The pelvic complex comprises the pelvic girdle and the associated limb or fin.	
MONDO:0005952	scarlet fever	biolink:Disease	mondo	UMLS:C0036285|NCIT:C94575|ICD10:A38.9|ICD9:034.1|COHD:141213|ICD10:A38|MESH:D012541|EFO:0007477|ICD9:034|SCTID:30242009|DOID:8596		scarlatina	http://purl.obolibrary.org/obo/MONDO_0005952	A streptococcal infection, mainly occurring among children, that is characterized by a red skin rash, sore throat, and fever.	DOID:8596|SNOMEDCT:30242009|NCIT:C94575|MESH:D012541|UMLS:C0036285
NCBITaxon:10368	Human betaherpesvirus 6	organism taxon	mondo	GC_ID:1		herpes simplex virus type 6|Human herpesvirus type 6|human herpesvirus type 6 HHV-6|HHV-6|Herpesvirus type 6|herpesvirus 6 HHV-6|Human herpesvirus 6|human herpesvirus 6 HHV-6|HHV6	http://purl.obolibrary.org/obo/NCBITaxon_10368		
MONDO:0005951	obsolete sarcocystosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005951		
MONDO:0005954	screw worm infectious disease	biolink:Disease	mondo	MESH:D012610|DOID:12927|EFO:0007479		infection, screw worm|infections, screw worm|screw worm infections|Cochliomyia hominivorax disease or disorder|Cochliomyia hominivorax infectious disease|Cochliomyia hominivorax caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005954	Infection with larvae of the blow fly Cochliomyia hominivorax (Callitroga americanum), a common cause of disease in livestock in the southern and southwestern U.S.A.	MESH:D012610|DOID:12927
MONDO:0005953	scirrhous adenocarcinoma	biolink:Disease	mondo	NCIT:C2928|MESH:D002293|DOID:4024|EFO:0007478|UMLS:C0007135|ICDO:8141/3		scirrhous adenocarcinoma (morphologic abnormality)|fibrocarcinoma|FIBROADENOCARCINOMA, malignant|scirrhous adenocarcinoma|scirrhous carcinoma|adenocarcinoma with productive fibrosis	http://purl.obolibrary.org/obo/MONDO_0005953	An infiltrating adenocarcinoma characterized by the presence of desmoplastic stromal reaction.	MESH:D002293|DOID:4024|NCIT:C2928|UMLS:C0007135
CHEBI:37949	azacycloalkane	biolink:ChemicalSubstance	mondo			azacycloalkanes	http://purl.obolibrary.org/obo/CHEBI_37949		
CHEBI:50905	teratogenic agent	biolink:ChemicalSubstance	mondo			agent teratogene|teratogeno|teratogen	http://purl.obolibrary.org/obo/CHEBI_50905	A role played by a chemical compound  in biological systems with adverse consequences in embryo developments, leading to birth defects, embryo death or altered development, growth retardation and functional defect.	
CHEBI:50904	allergen	biolink:ChemicalSubstance	mondo			alergeno|allergene|allergenic agent	http://purl.obolibrary.org/obo/CHEBI_50904	A chemical compound, or part thereof, which causes the onset of an allergic reaction by interacting with any of the molecular pathways involved in an allergy.	
MONDO:0005950	Salmonella gastroenteritis	biolink:Disease	mondo	COHD:196328|MESH:D012478|SCTID:42338000|ICD9:003.0|EFO:0007475		Salmonella caused gastroenteritis	http://purl.obolibrary.org/obo/MONDO_0005950	Poisoning caused by ingestion of food harboring species of salmonella. Conditions of raising, shipping, slaughtering, and marketing of domestic animals contribute to the spread of this bacterium in the food supply.	MESH:D012478|SNOMEDCT:42338000
CHEBI:50903	carcinogenic agent	biolink:ChemicalSubstance	mondo			carcinogene|carcinogenic agents|cancerigene|carcinogens|agente carcinogeno|carcinogeno|carcinogen|cancerogene	http://purl.obolibrary.org/obo/CHEBI_50903	A role played by a chemical compound which is known to  induce a process of carcinogenesis  by corrupting  normal cellular pathways, leading to the acquistion of tumoral capabilities.	
CHEBI:50902	genotoxin	biolink:ChemicalSubstance	mondo			genotoxic agent|genotoxic agents|genotoxins	http://purl.obolibrary.org/obo/CHEBI_50902	A role played by a chemical compound to induce direct or indirect DNA damage. Such damage can potentially lead to the formation of a malignant tumour, but DNA damage does not lead inevitably to the creation of cancerous cells.	
MONDO:0017916	pure or complex X-linked spastic paraplegia	biolink:Disease	mondo	Orphanet:320350|ICD10:G11.4	ordo_group_of_disorders	Pure or complicated X-linked spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0017916		ORPHA:320350
UBERON:0014793	musculature of pectoral complex	biolink:AnatomicalEntity	mondo			musculi membri superioris|set of muscles of upper limb|musculature of upper limb|muscles of upper limb|upper limb musculature	http://purl.obolibrary.org/obo/UBERON_0014793	Any collection of muscles that is part of a pectoral complex. The pectoral complex comprises the pectoral girdle and the associated limb or fin.	
MONDO:0017917	maternally-inherited spastic paraplegia	biolink:Disease	mondo	Orphanet:320360|ICD10:G11.4	ordo_disease	maternally-inherited SPG|MT-ATP6-related mitochondrial spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0017917	A rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.	ORPHA:320360
CHEBI:50908	hepatotoxic agent	biolink:ChemicalSubstance	mondo			agente hepatotoxico|hepatotoxic agents|hepatoxicant|hepatoxic agent|hepatotoxins|hepatotoxicants|hepatotoxin|hepatotoxicant	http://purl.obolibrary.org/obo/CHEBI_50908	A role played by a chemical compound exihibiting itself through the ability to induce damage to the liver in animals.	
UBERON:0014794	pectoral appendage muscle	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0014794	Any muscle organ that is part of a pectoral appendage (forelimb or pectoral fin).	
MONDO:0017918	white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome	biolink:Disease	mondo	MESH:C536701|UMLS:C2931292|GARD:0005560|Orphanet:3207	gard_rare|ordo_malformation_syndrome	familial white matter hypoplasia, agenesis of the corpus callosum, intellectual disability and growth deficiency|Curatolo-Cilio-Pessagno syndrome|Curatolo Cilio Pessagno syndrome	http://purl.obolibrary.org/obo/MONDO_0017918	White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome is a very rare neurological condition. The few patients described in the medical literature were characterized by brain anomalies; an unusual face with broad nasal root, wide spaced eyes (hypertelorism) and a very small chin (micrognathia); failure to thrive; severe intellectual disability ;and lack of muscle tone (hypotonia). Exams of the brain showed a poor development (hypoplasia) of the pale part of the brain known as white matter, and an absent or abnormal corpus callosum (nerve fibers joining the two hemispheres of the brain). Only a few cases have being described. The cause is unknown but may be related to a disorder of axonal development. The described cases seem to be inherited in an autosomal recessive or X-linked way. Corpus callosum agenesis is one of the more frequent congenital malformations. It can be either asymptomatic or associated with intellectual disability, epilepsy, or psychiatric syndromes. It can be part of several genetic syndromes, such as Aicardi syndrome, Andermann syndrome and Apert syndrome, trisomies 13, 18 ; or result from metabolic causes; drugs (cocaine); or viral infection (influenza). Many patients with corpus callosum anomalies have other brain anomalies, including white matter hypoplasia. There is no information on specific treatment for this condition.	MESH:C536701|UMLS:C2931292|ORPHA:3207
UBERON:0014795	pelvic appendage muscle	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0014795	Any muscle organ that is part of a pelvic appendage (hindlimb or pelvic fin).	
UBERON:0014796	common tendinous ring	biolink:AnatomicalEntity	mondo			anulus of Zinn|annulus of Zinn|tendon of Zinn|ligament of Zinn|anulus tendineus communis|anulus tendineus|common annular tendon|anulus tendineus communis|common tendinous ring|annulus tendineus communis|common anular tendon	http://purl.obolibrary.org/obo/UBERON_0014796	A ring of fibrous tissue surrounding the optic nerve at its entrance at the apex of the orbit.	
MONDO:0017919	bladder exstrophy-epispadias-cloacal exstrophy complex	biolink:Disease	mondo	UMLS:C1838703|DOID:0080173|Orphanet:322|ICD10:Q64.1|GARD:0002207	ordo_malformation_syndrome	EEC|exstrophy-epispadias complex|BEEC|bladder exstrophy-epispadias-cloacal extrophy complex	http://purl.obolibrary.org/obo/MONDO_0017919	Exstrophy-Epispadias Complex (EEC) represents a spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form. Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus.	ORPHA:322|UMLS:C1838703|DOID:0080173
CHEBI:50906	role	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_50906	A role is particular behaviour which a material entity may exhibit.	
MONDO:0017923	multiple synostoses syndrome	biolink:Disease	mondo	OMIMPS:186500|UMLS:CN204052|Orphanet:3237|ICD10:Q78.8|DOID:0050794	ordo_malformation_syndrome	facio-audio-symphalangism|deafness-Hermann type symphalangism syndrome|WL syndrome|symphalangism-brachydactyly syndrome	http://purl.obolibrary.org/obo/MONDO_0017923	Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.	UMLS:CN204052|ORPHA:3237|UMLS:C0175700|DOID:0050794
MONDO:0017924	central nervous system calcification-deafness-tubular acidosis-anemia syndrome	biolink:Disease	mondo	UMLS:CN204056|Orphanet:3240	ordo_disease	Yoshimura-Takeshita syndrome	http://purl.obolibrary.org/obo/MONDO_0017924	This syndrome is characterised by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anaemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family.	UMLS:CN204056|ORPHA:3240
MONDO:0017925	T-cell immunodeficiency with epidermodysplasia verruciformis	biolink:Disease	mondo	UMLS:CN714013|ICD10:D84.8|Orphanet:324294	ordo_disease	T-cell immunodeficiency due to RHOH deficiency	http://purl.obolibrary.org/obo/MONDO_0017925	T-cell immunodeficiency with epidermodysplasia verruciformis is a rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype.	ORPHA:324294|UMLS:CN714013
MONDO:0017926	multiple paragangliomas associated with polycythemia	biolink:Disease	mondo	Orphanet:324299|UMLS:CN204064	ordo_clinical_subtype	paraganglioma-somatostatinoma-polycythemia syndrome|multiple paragangliomas associated with erythrocytosis	http://purl.obolibrary.org/obo/MONDO_0017926		UMLS:CN204064|ORPHA:324299
MONDO:0017920	deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome	biolink:Disease	mondo	Orphanet:3224|MESH:C537887|UMLS:C2931654|ICD10:Q87.8|GARD:0004303|SCTID:721086004	ordo_malformation_syndrome	sensorineural deafness, hypospadias, and synostosis of metacarpals and metatarsals 4 and 5|Pfeiffer-Kapferer syndrome|short stature, intellectual disability and multiple dysmorphisms|short stature, mental retardation and multiple dysmorphisms|Pfeiffer Kapferer syndrome	http://purl.obolibrary.org/obo/MONDO_0017920	Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterised by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance).	UMLS:C2931654|ORPHA:3224|SNOMEDCT:721086004|MESH:C537887
MONDO:0017921	hearing loss-familial salivary gland insensitivity to aldosterone syndrome	biolink:Disease	mondo	SCTID:716239006|MESH:C536927|GARD:0000422|Orphanet:3225	ordo_malformation_syndrome	hearing loss insensitivity to aldosterone|hearing loss and familial salivary gland insensitivity to aldosterone|Tunglang savage Bellman syndrome|Tungland-Bellman syndrome	http://purl.obolibrary.org/obo/MONDO_0017921	Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterised by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive.	ORPHA:3225|SNOMEDCT:716239006|MESH:C536927
MONDO:0017922	deafness-onychodystrophy syndrome	biolink:Disease	mondo	Orphanet:3231|UMLS:CN204041|ICD10:Q87.8	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017922	Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies.	UMLS:CN204041|ORPHA:3231
UBERON:0000158	membranous layer	biolink:AnatomicalEntity	mondo			membranous organ component|membrane	http://purl.obolibrary.org/obo/UBERON_0000158		
UBERON:0000159	anal canal	biolink:AnatomicalEntity	mondo			cloacal chamber|canalis analis|mesenteron|anus|anal pad|cloaca|anal canal|pars analis recti|anatomical anal canal|anal canal viewed anatomically	http://purl.obolibrary.org/obo/UBERON_0000159	The terminal part of the large intestine, continuous proximally with the rectum and distally terminates with the anus.	
MONDO:0005949	roseolovirus infectious disease	biolink:Disease	mondo	UMLS:C0376549|EFO:0007474|MESH:D019349		Roseolovirus infectious disease|Roseolovirus caused disease or disorder|Roseolovirus disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005949	Infection with roseolovirus, the most common in humans being exanthema subitum, a benign disease of infants and young children.	MESH:D019349|UMLS:C0376549
UBERON:0000153	anterior region of body	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0000153		
MONDO:0005948	obsolete Ritter disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005948		
UBERON:0000154	posterior region of body	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0000154		
MONDO:0003348	conventional leiomyosarcoma	biolink:Disease	mondo	UMLS:C1333157|NCIT:C9428|DOID:5253		conventional leiomyosarcoma|classic leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003348	An uncommon, aggressive malignant smooth muscle neoplasm. It is characterized by the presence of atypical large spindle or round cells, nuclear palisading, tumor cell necrosis, mitotic figures and may be associated with vascular invasion.	DOID:5253|NCIT:C9428|UMLS:C1333157
MONDO:0003349	central nervous system leiomyosarcoma	biolink:Disease	mondo	NCIT:C6999|DOID:5254|UMLS:C1334385		leiomyosarcoma of the CNS|CNS leiomyosarcoma|leiomyosarcoma of central nervous system|leiomyosarcoma of the central nervous system|leiomyosarcoma of CNS|central nervous system leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003349	An aggressive malignant smooth muscle neoplasm, arising from the central nervous system. It is characterized by a proliferation of neoplastic spindle cells.	DOID:5254|NCIT:C6999|UMLS:C1334385
NCBITaxon:34384	Arthrodermataceae	organism taxon	mondo	GC_ID:1		dermatophytes|Arthrodermataceae anamorphs|anamorphic Arthrodermataceae	http://purl.obolibrary.org/obo/NCBITaxon_34384		
MONDO:0003344	obsolete hemangioblastoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003344		
HGNC:9382	PRKACG	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9382		
MONDO:0003345	hilar cholangiocarcinoma	biolink:Disease	mondo	DOID:4927|DOID:5246|GARD:0010175|MESH:D018285|ICD10:C24.0|NCIT:C36077|SCTID:253017000|UMLS:C0206702|EFO:1001005|Orphanet:99978	ordo_disease|gard_rare	hilar CC|hilar cholangiocellular carcinoma|hilar cholangiocarcinoma|perihilar cholangiocarcinoma|Klatskin tumor|perihilar extrahepatic bile duct carcinoma|Klatskin's tumor|hilar CCA|hilar portion of hepatic duct cholangiocarcinoma|cholangiocarcinoma of hilar portion of hepatic duct	http://purl.obolibrary.org/obo/MONDO_0003345	A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts.	ORPHA:99978|DOID:4927|UMLS:C0206702|MESH:D018285|NCIT:C36077|SNOMEDCT:253017000|DOID:5246
MONDO:0003346	central nervous system vasculitis	biolink:Disease	mondo	NCIT:C84622|DOID:525|UMLS:C0751878|MESH:D020293		vasculitis of central nervous system|central nervous system vasculitis	http://purl.obolibrary.org/obo/MONDO_0003346	Vasculitis affecting the blood vessels of the brain and/or spinal cord.	DOID:525|UMLS:C0751878|MESH:D020293|NCIT:C84622
HGNC:9380	PRKACA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9380		
MONDO:0003347	inflammatory leiomyosarcoma	biolink:Disease	mondo	UMLS:C1334179|NCIT:C27495|DOID:5251		inflammatory leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003347	A morphologic variant of leiomyosarcoma characterized by the presence of an inflammatory infiltrate admixed with malignant spindle cells.	DOID:5251|NCIT:C27495|UMLS:C1334179
MONDO:0003340	malignant glomus tumor	biolink:Disease	mondo	DOID:5233|ONCOTREE:MGST|ICDO:8711/3|ICDO:8710/3|UMLS:C1266111|NCIT:C4221		malignant glomus tumor|malignant glomus neoplasm|glomus tumor, malignant|glomangiosarcoma	http://purl.obolibrary.org/obo/MONDO_0003340	A very rare morphologic variant of glomus tumor with a size greater than 2 cm. The tumor arises in subfascial or visceral tissues. It is characterized by the presence of atypical mitotic figures, or marked nuclear atypia, or the combination of both. It has an aggressive clinical course.	NCIT:C4221|DOID:5233|UMLS:C1266111
MONDO:0003341	subungual glomus tumor	biolink:Disease	mondo	DOID:5236|UMLS:C1304510|SCTID:403973004|ICD9:228.09|NCIT:C36079		subungual glomus tumor	http://purl.obolibrary.org/obo/MONDO_0003341	A glomus tumor arising in the finger and usually associated with pain.	SNOMEDCT:403973004|NCIT:C36079|UMLS:C1304510|DOID:5236
MONDO:0003342	benign perivascular tumor	biolink:Disease	mondo	DOID:5238|NCIT:C6529|UMLS:C1332532		benign perivascular neoplasm|benign perivascular tumor|benign Pericytic neoplasm|pericytic neoplasm, benign|benign pericytic neoplasm|benign Pericytic tumor	http://purl.obolibrary.org/obo/MONDO_0003342	A benign mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels.	NCIT:C6529|DOID:5238|UMLS:C1332532
MONDO:0003343	retinal hemangioblastoma	biolink:Disease	mondo	UMLS:C1514915|NCIT:C39783|DOID:5240		retinal hemangioblastoma|vasculature of retina hemangioblastoma|retinal capillary hemangioblastoma|hemangioblastoma of vasculature of retina	http://purl.obolibrary.org/obo/MONDO_0003343	A hemangioblastoma that arises from the retina. It is typically a sign of von Hippel-Lindau disease. It may also be seen as an isolated entity without systemic involvement.	UMLS:C1514915|NCIT:C39783|DOID:5240
CHEBI:13941	carbamate	biolink:ChemicalSubstance	mondo			Karbamat|carbamic acid, ion(1-)|carbamate ion|Carbamat|carbamate	http://purl.obolibrary.org/obo/CHEBI_13941		
MONDO:0015337	isolated craniosynostosis	biolink:Disease	mondo	ICD10:Q75.0|Orphanet:139390	ordo_group_of_disorders	nonsyndromic craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0015337	A craniosynostosis that is not part of a larger syndrome.	ORPHA:139390
MONDO:0015336	malformation syndrome with odontal and/or periodontal component	biolink:Disease	mondo	UMLS:CN199366|Orphanet:139042	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015336		UMLS:CN199366|ORPHA:139042
MONDO:0015335	orofacial clefting syndrome	biolink:Disease	mondo	UMLS:CN199365|Orphanet:139039	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015335		UMLS:CN199365|ORPHA:139039
MONDO:0015334	branchial arch or oral-acral syndrome	biolink:Disease	mondo	UMLS:CN199364|Orphanet:139036	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015334		UMLS:CN199364|ORPHA:139036
MONDO:0017996	obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency	biolink:Disease	mondo	UMLS:CN204202|Orphanet:329255			http://purl.obolibrary.org/obo/MONDO_0017996		UMLS:CN204202|http://identifiers.org/omim/615057|ORPHA:329255
MONDO:0017997	telecanthus-hypertelorism-strabismus-pes cavus syndrome	biolink:Disease	mondo	Orphanet:3293|UMLS:CN204205	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0017997	Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia.	UMLS:CN204205|ORPHA:3293
MONDO:0017998	PLA2G6-associated neurodegeneration	biolink:Disease	mondo	GARD:0012567|Orphanet:329303|ICD10:G23.0	ordo_group_of_disorders	neurodegeneration with brain iron accumulation caused by mutation in PLA2G6|plan|PLA2G6 neurodegeneration with brain iron accumulation	http://purl.obolibrary.org/obo/MONDO_0017998	Any neurodegeneration with brain iron accumulation in which the cause of the disease is a mutation in the PLA2G6 gene.	ORPHA:329303
MONDO:0015339	adrenomyeloneuropathy	biolink:Disease	mondo	SCTID:65389002|UMLS:C1527231|ICD10:E71.3|GARD:0010614|Orphanet:139399	ordo_clinical_subtype	AMN	http://purl.obolibrary.org/obo/MONDO_0015339	Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males.	ORPHA:139399|SNOMEDCT:65389002|UMLS:C1527231
MONDO:0015338	syndromic craniosynostosis	biolink:Disease	mondo	UMLS:CN226660|Orphanet:139393	ordo_group_of_disorders	syndrome associated with craniosynostosis|syndromic craniosynostosis|syndrome associated with craniosynostosis	http://purl.obolibrary.org/obo/MONDO_0015338	A craniosynostosis that is part of a larger syndrome.	UMLS:CN226660|ORPHA:139393
MONDO:0017999	fatty acid hydroxylase-associated neurodegeneration	biolink:Disease	mondo	Orphanet:329308|ICD10:G23.0|GARD:0010810	ordo_disease	FAHN	http://purl.obolibrary.org/obo/MONDO_0017999	Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus.	ORPHA:329308
MONDO:0017992	autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis	biolink:Disease	mondo	UMLS:CN237438|Orphanet:329173	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017992		ORPHA:329173|UMLS:CN237438
HGNC:9386	PRKAG2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9386		
MONDO:0017993	cerebral sinovenous thrombosis	biolink:Disease	mondo	ICD10:I67.6|Orphanet:329217	ordo_disease	CSVT	http://purl.obolibrary.org/obo/MONDO_0017993	A rare but serious cerebrovascular disorder involving thrombosis of the cerebral venous system. It affects children from the newborn period through childhood and adolescence. In childhood CSVT, acute infections of the head and neck such as mastoiditis are most common, followed by chronic underlying diseases such as nephrotic syndrome, cancer, and inflammatory bowel disease. Signs and symptoms are also age related. Seizures and altered mental status are the commonest manifestations in newborns. Headache, vomiting, and lethargy, sometimes with 6th nerve palsy, are the most common symptoms in children and adolescents.	ORPHA:329217
MONDO:0017994	severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency	biolink:Disease	mondo	UMLS:CN204200|Orphanet:329249|ICD10:E66.8	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017994		UMLS:CN204200|ORPHA:329249
MONDO:0017995	spondylocostal dysostosis-hypospadias-intellectual disability syndrome	biolink:Disease	mondo	UMLS:CN204201|Orphanet:329252	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017995		UMLS:CN204201|ORPHA:329252
MONDO:0015333	progeroid syndrome	biolink:Disease	mondo	DC:0000583|UMLS:CN199363|Orphanet:139033	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015333	A group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are.	UMLS:CN199363|ORPHA:139033
MONDO:0015332	rare developmental defect with connective tissue involvement	biolink:Disease	mondo	UMLS:CN199362|Orphanet:139030	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0015332		UMLS:CN199362|ORPHA:139030
MONDO:0017990	catecholaminergic polymorphic ventricular tachycardia	biolink:Disease	mondo	OMIMPS:604772|Orphanet:3286|GARD:0004421|ICD10:I47.2|UMLS:C1631597|DOID:0060674|SCTID:419671004	ordo_disease|clingen|gard_rare	ventricular tachycardia, catecholaminergic polymorphic|syncopal paroxysmal tachycardia|double tachycardia induced by catecholamines|malignant paroxysmal ventricular tachycardia|stress-induced polymorphic ventricular tachycardia|polymorphic catecholergic ventricular tachycardia|catecholamine-induced polymorphic ventricular tachycardia|CPVT|familial polymorphic ventricular tachycardia|multifocal ventricular premature beats|bidirectional tachycardia induced by catecholamine	http://purl.obolibrary.org/obo/MONDO_0017990	Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death.	SNOMEDCT:419671004|UMLS:C1631597|DOID:0060674|ORPHA:3286
MONDO:0015331	malformation syndrome with skin/mucosae involvement	biolink:Disease	mondo	UMLS:CN199361|Orphanet:139027	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015331		UMLS:CN199361|ORPHA:139027
HGNC:9388	PRKAR1A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9388		
MONDO:0017991	Takayasu arteritis	biolink:Disease	mondo	NCIT:C35062|DOID:2508|MESH:D013625|NCIT:C34391|EFO:1001857|ICD10:M31.4|ICD9:446.7|UMLS:C0039263|GARD:0007730|MedDRA:10043097|OMIM:207600|COHD:440740|SCTID:239937004|Orphanet:3287	ordo_disease	idiopathic aortitis|pharyngeal arch artery syndromic disease|Takayasu arteritis|Takayasu disease|pulseless disease|aortic arch arteritis|Young female arteritis|TA|Takayasu's disease|aortic Arch syndrome|Takayasu's arteritis	http://purl.obolibrary.org/obo/MONDO_0017991	Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.	DOID:2508|MEDDRA:10043097|http://identifiers.org/omim/207600|ORPHA:3287|NCIT:C35062|SNOMEDCT:239937004|UMLS:C0039263|NCIT:C34391|MESH:D013625
MONDO:0015330	overgrowth/obesity syndrome	biolink:Disease	mondo	UMLS:CN199360|Orphanet:139024	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015330		UMLS:CN199360|ORPHA:139024
MONDO:0003359	myxoid leiomyosarcoma	biolink:Disease	mondo	NCIT:C3701|UMLS:C0205816|DOID:5268|ICDO:8896/3		myxoid leiomyosarcoma (morphologic abnormality)|myxoid leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003359	A morphologic variant of leiomyosarcoma characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma.	UMLS:C0205816|NCIT:C3701|DOID:5268
NCBITaxon:213115	Desulfovibrionales	organism taxon	mondo	GC_ID:11|PMID:16403855			http://purl.obolibrary.org/obo/NCBITaxon_213115		
MONDO:0003355	ovary leiomyosarcoma	biolink:Disease	mondo	UMLS:C1335163|DOID:5263|EFO:0006718|NCIT:C5234		leiomyosarcoma of ovary|ovarian leiomyosarcoma|leiomyosarcoma of the ovary|ovary leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003355	An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells.	NCIT:C5234|UMLS:C1335163|DOID:5263
MONDO:0003356	epithelioid leiomyosarcoma	biolink:Disease	mondo	NCIT:C3700|DOID:5264|ICDO:8891/3|UMLS:C0205815		epithelioid leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003356	A morphologic variant of leiomyosarcoma characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm.	UMLS:C0205815|NCIT:C3700|DOID:5264
CHEBI:25944	pesticide	biolink:ChemicalSubstance	mondo			Pestizide|Pestizid|pesticide|pesticides	http://purl.obolibrary.org/obo/CHEBI_25944	Strictly, a substance intended to kill pests. In common usage, any substance used for controlling, preventing, or destroying animal, microbiological or plant pests.	
MONDO:0003357	lung leiomyosarcoma	biolink:Disease	mondo	NCIT:C5667|DOID:5265|UMLS:C1334448		leiomyosarcoma of the lung|pulmonary leiomyosarcoma|lung leiomyosarcoma|leiomyosarcoma of lung	http://purl.obolibrary.org/obo/MONDO_0003357	An aggressive malignant smooth muscle neoplasm, arising from the lung. It is characterized by a proliferation of neoplastic spindle cells.	NCIT:C5667|UMLS:C1334448|DOID:5265
MONDO:0003358	anus leiomyosarcoma	biolink:Disease	mondo	UMLS:C1332267|DOID:5267|NCIT:C5599		anal leiomyosarcoma|leiomyosarcoma of the anus|anus leiomyosarcoma|leiomyosarcoma of anus	http://purl.obolibrary.org/obo/MONDO_0003358	An aggressive malignant smooth muscle neoplasm, arising from the anus. It is characterized by a proliferation of neoplastic spindle cells.	NCIT:C5599|UMLS:C1332267|DOID:5267
UBERON:0012193	phrenic vein	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0012193	The veins that run parallel to the phrenic arteries which include the two superior and two inferior phrenic veins.	
MONDO:0003351	colon leiomyosarcoma	biolink:Disease	mondo	UMLS:C1333093|NCIT:C5494|DOID:5259		colon leiomyosarcoma|leiomyosarcoma of the colon|leiomyosarcoma of colon|colonic leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003351	An aggressive malignant smooth muscle neoplasm that arises from the colon. It is characterized by a proliferation of neoplastic spindle cells.	NCIT:C5494|UMLS:C1333093|DOID:5259
MONDO:0003352	colon sarcoma	biolink:Disease	mondo	NCIT:C5495|UMLS:C1333098|DOID:5260		colon sarcoma|sarcoma of colon|sarcoma of the colon|colonic sarcoma	http://purl.obolibrary.org/obo/MONDO_0003352	A malignant soft tissue neoplasm that arises from the colon. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma.	NCIT:C5495|UMLS:C1333098|DOID:5260
MONDO:0003353	heart leiomyosarcoma	biolink:Disease	mondo	NCIT:C5364|DOID:5261|UMLS:C1332848		leiomyosarcoma of heart|heart leiomyosarcoma|leiomyosarcoma of the heart|Cardiac leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003353	An aggressive malignant smooth muscle neoplasm, arising from the heart. It is characterized by a proliferation of neoplastic spindle cells.	NCIT:C5364|DOID:5261|UMLS:C1332848
GO:1902742	apoptotic process involved in development	biolink:OntologyClass	mondo			apoptosis signaling involved in anatomical structure development|programmed cell death by apoptosis involved in development of an anatomical structure|type I programmed cell death involved in development of an anatomical structure|apoptosis involved in development of an anatomical structure|induction of apoptosis involved in development of an anatomical structure|activation of apoptosis involved in development of an anatomical structure|commitment to apoptosis involved in development of an anatomical structure|apoptosis activator activity involved in development of an anatomical structure|type I programmed cell death involved in anatomical structure development|programmed cell death by apoptosis involved in anatomical structure development|apoptosis involved in anatomical structure development|signaling (initiator) caspase activity involved in development of an anatomical structure|apoptosis activator activity involved in anatomical structure development|commitment to apoptosis involved in anatomical structure development|activation of apoptosis involved in anatomical structure development|induction of apoptosis involved in anatomical structure development|apoptotic programmed cell death involved in development of an anatomical structure|apoptotic program involved in development of an anatomical structure|induction of apoptosis by p53 involved in development of an anatomical structure|apoptotic process involved in development of an anatomical structure|apoptotic cell death involved in development of an anatomical structure|signaling (initiator) caspase activity involved in anatomical structure development|apoptotic program involved in anatomical structure development|apoptotic programmed cell death involved in anatomical structure development|induction of apoptosis by p53 involved in anatomical structure development|apoptosis signaling involved in development of an anatomical structure|apoptotic process involved in anatomical structure development|apoptotic cell death involved in anatomical structure development	http://purl.obolibrary.org/obo/GO_1902742	Any apoptotic process that is involved in anatomical structure development.	
MONDO:0003354	heart sarcoma	biolink:Disease	mondo	UMLS:C0238152|DOID:5262|NCIT:C7723		cardiac sarcoma|heart sarcoma|Cardiac sarcoma|sarcoma of heart|sarcoma of the heart	http://purl.obolibrary.org/obo/MONDO_0003354	A malignant soft tissue neoplasm that arises from the heart. The majority of cases are angiosarcomas.	NCIT:C7723|UMLS:C0238152|DOID:5262
MONDO:0003350	granular cell leiomyosarcoma	biolink:Disease	mondo	NCIT:C27494|UMLS:C1333871|DOID:5258		granular cell leiomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0003350	An aggressive malignant smooth muscle neoplasm. It is characterized by the presence of malignant smooth muscle cells with granular cytoplasmic changes.	NCIT:C27494|DOID:5258|UMLS:C1333871
MONDO:0015326	night blindness-skeletal anomalies-dysmorphism syndrome	biolink:Disease	mondo	UMLS:CN199356|GARD:0003994|Orphanet:1390|ICD10:Q87.8	ordo_malformation_syndrome|gard_rare	Hunter Thompson Reed syndrome|Hunter-Thompson-Reed syndrome	http://purl.obolibrary.org/obo/MONDO_0015326	This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia).	ORPHA:1390|UMLS:CN199356
MONDO:0017989	His bundle tachycardia	biolink:Disease	mondo	ICD10:I47.1|ICD9:427.89|NCIT:C111646|SCTID:233901002|UMLS:C0039235|MESH:D013613|GARD:0002706|Orphanet:3283	ordo_disease|gard_rare	JET|junctional ectopic tachycardia	http://purl.obolibrary.org/obo/MONDO_0017989	His bundle tachycardia is a very rare congenital genetic tachyarrhythmia characterized by incessant tachycardia and high morbidity and mortality.	MESH:D013613|SNOMEDCT:233901002|ORPHA:3283|NCIT:C111646|UMLS:C0039235
MONDO:0015325	cataract-deafness-hypogonadism syndrome	biolink:Disease	mondo	MESH:C536626|ICD10:Q87.8|SCTID:722378009|Orphanet:1383	ordo_malformation_syndrome	Schaap-Taylor-Baraitser syndrome	http://purl.obolibrary.org/obo/MONDO_0015325	Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995.	ORPHA:1383|MESH:C536626|SNOMEDCT:722378009
MONDO:0015324	cataract-intellectual disability-anal atresia-urinary defects syndrome	biolink:Disease	mondo	SCTID:715989002|MESH:C537009|Orphanet:1381|GARD:0000192|UMLS:C2931391|ICD10:Q87.8	ordo_malformation_syndrome|gard_rare	Karandikar Maria Kamble syndrome|cataract intellectual disability anal atresia urinary defects|congenital cataract with multiple congenital anomalies in a sibship|Karandikar-Maria-Kamble syndrome|cataract mental retardation anal atresia urinary defects	http://purl.obolibrary.org/obo/MONDO_0015324	Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies.	ORPHA:1381|SNOMEDCT:715989002|UMLS:C2931391|MESH:C537009
MONDO:0015323	teratogenic Pierre Robin syndrome	biolink:Disease	mondo	UMLS:CN199294|Orphanet:138059	ordo_group_of_disorders	teratogenic Pierre Robin sequence	http://purl.obolibrary.org/obo/MONDO_0015323		UMLS:CN199294|ORPHA:138059
MONDO:0017985	congenital radioulnar synostosis	biolink:Disease	mondo	ICD9:755.53|HP:0002974|SCTID:33313004|GARD:0004630|GARD:0010876|OMIM:179300|COHD:438851|ICD10:Q74.0|Orphanet:3269|MESH:C562408|DOID:9827	ordo_morphological_anomaly|gard_rare	radial-ulnar synostosis|radioulnar synostosis (disease)|proximal, smooth fusion of 2-6 CM between the radius and ulna and absent head of the radius|radio-ulnar synostosis type 1|radioulnar synostosis|radioulnar fusion|radio-ulnar synostosis	http://purl.obolibrary.org/obo/MONDO_0017985	Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living.	SNOMEDCT:33313004|MESH:C562408|UMLS:C0431795|DOID:9827|ORPHA:3269|http://identifiers.org/omim/179300
MONDO:0015329	malformation syndrome with short stature	biolink:Disease	mondo	Orphanet:139021|SCTID:205808005|UMLS:CN199359	ordo_group_of_disorders	congenital malformation syndrome and short stature|congenital malformation syndrome associated with short stature|malformation syndrome associated with short stature	http://purl.obolibrary.org/obo/MONDO_0015329		UMLS:CN199359|SNOMEDCT:205808005|ORPHA:139021
MONDO:0017986	disorder of plasmalogens biosynthesis	biolink:Disease	mondo	UMLS:CN237437|Orphanet:3276	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017986		UMLS:CN237437|ORPHA:3276
MONDO:0015328	obsolete rare bone development disorder	biolink:Disease	mondo	Orphanet:139012|NCIT:C34432	ordo_group_of_disorders|obsoletion_candidate	rare skeletal development disorder|bone development disorder|rare bone development disease	http://purl.obolibrary.org/obo/MONDO_0015328	Any of the forms of bone development disease that have a rare incidence.	NCIT:C34432|ORPHA:139012
MONDO:0017987	syringomyelia	biolink:Disease	mondo	GARD:0007725|DOID:327|ICD10:Q06.4|COHD:378533|SCTID:111496009|NCIT:C85179|MESH:D013595|ICD10:G95.0|Orphanet:3280|MedDRA:10042928|UMLS:C0039144	gard_rare|ordo_group_of_disorders	hydromyelia	http://purl.obolibrary.org/obo/MONDO_0017987	Syringomyelia is characterised by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord, either as a result of a known cause (secondary syringomyelia, SS) or, more rarely, due to an unknown cause (primary syringomyelia, PS).	MESH:D013595|DOID:327|SNOMEDCT:111496009|NCIT:C85179|ORPHA:3280|MEDDRA:10042928|UMLS:C0039144
MONDO:0015327	developmental anomaly of metabolic origin	biolink:Disease	mondo	Orphanet:139009	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015327		ORPHA:139009
MONDO:0017988	multifocal atrial tachycardia (disease)	biolink:Disease	mondo	HP:0011701|ICD9:427.89|UMLS:C0221158|SCTID:49982000|Orphanet:3282|ICD10:I47.1|GARD:0001235	ordo_disease	multifocal atrial tachycardia|chaotic atrial tachycardia|MAT	http://purl.obolibrary.org/obo/MONDO_0017988	Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic.	UMLS:C0221158|SNOMEDCT:49982000|ORPHA:3282
MONDO:0017981	syngnathia-cleft palate syndrome	biolink:Disease	mondo	UMLS:CN204137|Orphanet:3263|GARD:0005091	ordo_malformation_syndrome	syngnathia cleft palate	http://purl.obolibrary.org/obo/MONDO_0017981		UMLS:CN204137|ORPHA:3263
MONDO:0017982	obsolete humeroradial synostosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0017982		
MONDO:0017983	humero-radio-ulnar synostosis	biolink:Disease	mondo	Orphanet:3266|ICD10:Q74.0	ordo_morphological_anomaly	humero-radio-ulnar fusion	http://purl.obolibrary.org/obo/MONDO_0017983	Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated.	ORPHA:3266
MONDO:0017984	familial lambdoid synostosis	biolink:Disease	mondo	GARD:0003168|Orphanet:3267|UMLS:CN204142|ICD10:Q75.0|SCTID:766884000	ordo_morphological_anomaly	lambdoid synostosis|craniosynostosis, lambdoidal	http://purl.obolibrary.org/obo/MONDO_0017984	Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure.	UMLS:CN204142|ORPHA:3267|SNOMEDCT:766884000
MONDO:0015322	Pierre Robin syndrome associated with bone disease	biolink:Disease	mondo	UMLS:CN199293|Orphanet:138055	ordo_group_of_disorders	Pierre Robin sequence associated with bone disease	http://purl.obolibrary.org/obo/MONDO_0015322		UMLS:CN199293|ORPHA:138055
MONDO:0015321	Pierre Robin syndrome associated with branchial archs anomalies	biolink:Disease	mondo	UMLS:CN199292|Orphanet:138050	ordo_group_of_disorders	Pierre Robin sequence associated with branchial archs anomalies	http://purl.obolibrary.org/obo/MONDO_0015321		UMLS:CN199292|ORPHA:138050
MONDO:0015320	Pierre Robin syndrome associated with a chromosomal anomaly	biolink:Disease	mondo	Orphanet:138047|UMLS:CN199291	ordo_group_of_disorders	Pierre Robin sequence associated with a chromosomal anomaly	http://purl.obolibrary.org/obo/MONDO_0015320		UMLS:CN199291|ORPHA:138047
HGNC:9399	PRKCD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9399		
MONDO:0017980	syngnathia multiple anomalies	biolink:Disease	mondo	Orphanet:3262|GARD:0005092	gard_rare|ordo_malformation_syndrome	syngnathia-multiple anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0017980		ORPHA:3262
MONDO:0005989	toxoplasmosis	biolink:Disease	mondo	DOID:9965|EFO:0007517|ICD9:130|ICD9:130.9|UMLS:C0040558|COHD:440653|ICD10:B58|ICD10:B58.9|NCIT:C3418|MESH:D014123|SCTID:187192000|ICD9:130.7		Toxoplasma gondii disease or disorder|disseminated toxoplasmosis|Toxoplasma gondii infectious disease|Toxoplasma gondii caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005989	A parasitic disease contracted by the ingestion or fetal transmission of toxoplasma gondii.	NCIT:C3418|SNOMEDCT:187192000|MESH:D014123|UMLS:C0040558|DOID:9965
MONDO:0003326	intermixed schwannian stroma-rich ganglioneuroblastoma	biolink:Disease	mondo	DOID:5194|NCIT:C42057|UMLS:C1517444		ganglioneuroblastoma, intermixed (Schwannian Stroma-rich)|ganglioneuroblastoma, intermixed	http://purl.obolibrary.org/obo/MONDO_0003326	A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, without the presence of hemorrhagic neuroblastic nodules.	DOID:5194|NCIT:C42057|UMLS:C1517444
MONDO:0003327	peripheral ganglioneuroblastoma	biolink:Disease	mondo	DOID:5195|NCIT:C6594|UMLS:C1335387		PNS ganglioneuroblastoma|peripheral nervous system ganglioneuroblastoma|peripheral nervous system ganglioneuroblastoma (disease)|ganglioneuroblastoma (disease) of peripheral nervous system|peripheral ganglioneuroblastoma	http://purl.obolibrary.org/obo/MONDO_0003327	A ganglioneuroblastoma arising from the peripheral nervous system.	DOID:5195|NCIT:C6594|UMLS:C1335387
MONDO:0005988	toxocariasis	biolink:Disease	mondo	NCIT:C34758|MESH:D014120|EFO:0007516|ICD9:128.0|UMLS:C0040553|Orphanet:3343|ICD10:B83.0|GARD:0007788|SCTID:406619001|DOID:9790|MedDRA:10044269	ordo_disease	Toxocara caused disease or disorder|Toxocara infection|infection by Toxascaris|visceral larva migrans|Toxocara disease or disorder|Toxocara infectious disease	http://purl.obolibrary.org/obo/MONDO_0005988	A parasitic infection caused by worms found in domestic animals. In humans nematode larvae enter the portal system from the small intestine and disseminate in visceral organs causing inflammatory reactions. Signs and symptoms include eosinophilia, hepatomegaly, splenomegaly, and lung infections.	MESH:D014120|SNOMEDCT:406619001|NCIT:C34758|UMLS:C0040553|MEDDRA:10044269|DOID:9790|ORPHA:3343
UBERON:0012180	head or neck skin	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0012180	A zone of skin that is part of a craniocervical region.	
MONDO:0003328	fallopian tube adenomatoid tumor	biolink:Disease	mondo	DOID:5196|UMLS:C1517110|NCIT:C40129		fallopian tube adenomatoid tumor	http://purl.obolibrary.org/obo/MONDO_0003328	A benign neoplasm that arises from the fallopian tube and originates from mesothelial cells. It is characterized by the presence of gland-like structures that are lined by flat or cuboidal cells. It is usually discovered as an incidental finding.	NCIT:C40129|DOID:5196|UMLS:C1517110
MONDO:0003329	ureteral obstruction (disease)	biolink:Disease	mondo	HP:0006000|SCTID:20018005|ICD9:593.4|DOID:5199|MESH:D014517		ureteral obstruction	http://purl.obolibrary.org/obo/MONDO_0003329	Blockage in any part of the ureter causing obstruction of urine flow from the kidney to the urinary bladder. The obstruction may be congenital, acquired, unilateral, bilateral, complete, partial, acute, or chronic. Depending on the degree and duration of the obstruction, clinical features vary greatly such as hydronephrosis and obstructive nephropathy.	MESH:D014517|DOID:5199|SNOMEDCT:20018005
MONDO:0005985	Togaviridae infectious disease	biolink:Disease	mondo	EFO:0007513|GARD:0007776|MESH:D014036|UMLS:C0040361		Togaviridae disease or disorder|Togaviridae caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005985	Virus diseases caused by the togaviridae.	UMLS:C0040361|MESH:D014036
MONDO:0003322	epithelial predominant Wilms' tumor	biolink:Disease	mondo	UMLS:C0279608|NCIT:C9146|DOID:5189		epithelial predominant renal Wilms' tumor|epithelial predominant kidney Wilms tumor|epithelial predominant renal Wilms tumor|epithelial predominant renal adenosarcoma|epithelial predominant kidney adenosarcoma|epithelial predominant Wilms tumor|epithelial predominant renal Wilm's tumor|epithelial predominant nephroblastoma	http://purl.obolibrary.org/obo/MONDO_0003322	Wilms tumor of the kidney characterized by the predominance of the epithelial component. The epithelial cells may form papillary and tubular patterns and pseudorosettes.	DOID:5189|NCIT:C9146|UMLS:C0279608
MONDO:0005984	tinea pedis	biolink:Disease	mondo	ICD9:110.4|DOID:12403|UMLS:C0040259|EFO:0007512|MESH:D014008|SCTID:6020002|COHD:133141|ICD10:B35.3		pes dermatophytosis|athlete's foot|dermatophytosis of foot|ringworm of foot|dermatophytosis of pes	http://purl.obolibrary.org/obo/MONDO_0005984	Dermatological pruritic lesion in the feet, caused by Trichophyton rubrum, T. mentagrophytes, or Epidermophyton floccosum.	SNOMEDCT:6020002|UMLS:C0040259|DOID:12403|MESH:D014008
MONDO:0003323		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003323		
MONDO:0005987	toxascariasis	biolink:Disease	mondo	UMLS:C0040522|EFO:0007515|DOID:3107|MESH:D017227		Toxascaris disease or disorder|Toxascaris infectious disease|Toxascaris caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005987	Infections with nematodes of the genus toxascaris.	DOID:3107|UMLS:C0040522|MESH:D017227
MONDO:0003324	obsolete stromal predominant kidney Wilms' tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003324		
MONDO:0005986	torovirus infectious disease	biolink:Disease	mondo	EFO:0007514|MESH:D018176|UMLS:C0206607		Torovirus infectious disease|Torovirus caused disease or disorder|Torovirus disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005986	Infections with viruses of the genus torovirus, family coronaviridae.	UMLS:C0206607|MESH:D018176
MONDO:0003325	nodular ganglioneuroblastoma	biolink:Disease	mondo	NCIT:C42058|DOID:5193|UMLS:C1517445		ganglioneuroblastoma, nodular	http://purl.obolibrary.org/obo/MONDO_0003325	A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, and the formation of hemorrhagic neuroblastic nodules.	DOID:5193|NCIT:C42058|UMLS:C1517445
MONDO:0030909	intellectual disability, X-linked, syndromic, Houge type	biolink:Disease	mondo	UMLS:CN679647|DOID:0080242|OMIM:301008		syndromic X-linked intellectual disability Hough type|mental retardation, X-linked, syndromic, HOUGE type; MRXSHG|intellectual disability, X-linked, syndromic, HOUGE type; MRXSHG|mental retardation, X-linked, syndromic, Houge type|MRXSHG|intellectual disability, X-linked, syndromic, Houge type|syndromic X-linked mental retardation Hough type	http://purl.obolibrary.org/obo/MONDO_0030909		UMLS:CN679647|DOID:0080242|http://identifiers.org/omim/301008
MONDO:0005981	tick paralysis	biolink:Disease	mondo	UMLS:C0040197|DOID:11285|MESH:D013985|SCTID:74225001|GARD:0007771|EFO:0007509	gard_rare		http://purl.obolibrary.org/obo/MONDO_0005981	Paralysis caused by a neurotropic toxin secreted by the salivary glands of ticks.	SNOMEDCT:74225001|UMLS:C0040197|MESH:D013985|DOID:11285
MONDO:0005980	tick infestation	biolink:Disease	mondo	DOID:4109|UMLS:C0040196|MESH:D013984|EFO:0007508		Ixodoidea disease or disorder|Ixodoidea infectious disease|Ixodoidea caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005980	Infestations with soft-bodied (Argasidae) or hard-bodied (Ixodidae) ticks.	DOID:4109|MESH:D013984|UMLS:C0040196
MONDO:0030908	intellectual disability, X-linked, syndromic, 35	biolink:Disease	mondo	DOID:0080241|OMIM:300998		mental retardation, X-linked, syndromic, 35|MRXS35|intellectual disability, X-linked, syndromic, 35|syndromic X-linked mental retardation 35|syndromic X-linked intellectual disability 35|mental retardation, X-linked, syndromic, 35; MRXS35|intellectual disability, X-linked, syndromic, 35; MRXS35	http://purl.obolibrary.org/obo/MONDO_0030908		http://identifiers.org/omim/300998|DOID:0080241
MONDO:0005983	tinea favosa	biolink:Disease	mondo	DOID:4336|NCIT:C35072|EFO:0007511|MESH:D014007|ICD10:B35|UMLS:C0040254|SCTID:85375000		favus	http://purl.obolibrary.org/obo/MONDO_0005983	A severe, chronic fungal skin infection, usually of the scalp, characterized by the development of thick, yellow cup-shaped crusts and scarring over hair follicles.	DOID:4336|UMLS:C0040254|SNOMEDCT:85375000|MESH:D014007|NCIT:C35072
MONDO:0003320	blastema predominant kidney Wilms tumor	biolink:Disease	mondo	NCIT:C9147|UMLS:C0279609|DOID:5182		blastema predominant renal Wilm's tumor|blastema predominant Wilms tumor|blastema predominant kidney Wilms' tumor|blastema predominant nephroblastoma|blastema predominant kidney adenosarcoma|blastema predominant renal Wilms' tumor|blastema predominant renal Wilms tumor|blastema predominant kidney Wilms tumor|blastema predominant renal adenosarcoma	http://purl.obolibrary.org/obo/MONDO_0003320	Wilms tumor of the kidney characterized by the predominance of the blastema component.	DOID:5182|NCIT:C9147|UMLS:C0279609
MONDO:0005982	tinea infection	biolink:Disease	mondo	EFO:0007510|NCIT:C112181|UMLS:C0040247		ringworm|Tinea infectious disease|Tinea caused disease or disorder|Tinea disease or disorder|Tinea infection|Tinea	http://purl.obolibrary.org/obo/MONDO_0005982	A skin infection caused by a fungus.	UMLS:C0040247|NCIT:C112181
MONDO:0003321	hereditary Wilms' tumor	biolink:Disease	mondo	UMLS:C0677779|NCIT:C8496|DOID:5183		hereditary Wilms' tumor|hereditary renal adenosarcoma|WT1|hereditary kidney adenosarcoma|familial Wilms tumor|hereditary nephroblastoma|familial Wilms' tumor|hereditary Wilms tumor	http://purl.obolibrary.org/obo/MONDO_0003321	Familial embryonal neoplasm derived from nephrogenic blastemal cells. Several lines of differentiation, including blastemal, stromal and epithelial, are usually expressed. Comprises approximately 1% of Wilms tumors. (AFIP fascicle version 2.0)	DOID:5183|NCIT:C8496|UMLS:C0677779
MONDO:0015309	obsolete Auriculocondylar syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015309		
MONDO:0030907	intellectual disability, X-linked 106	biolink:Disease	mondo	OMIM:300997|DOID:0080240		intellectual disability, X-linked 106|MRX106|mental retardation, X-linked 106; MRX106|intellectual disability, X-linked 106; MRX106|X-linked mental retardation 106|X-linked intellectual disability 106|mental retardation, X-linked 106	http://purl.obolibrary.org/obo/MONDO_0030907		http://identifiers.org/omim/300997|DOID:0080240
MONDO:0030906	Trichomonas tenax infectious disease	biolink:Disease	mondo	DOID:0050270		Trichomonas tenax trichomoniasis|Trichomonas tenax caused disease or disorder|Trichomonas tenax disease or disorder	http://purl.obolibrary.org/obo/MONDO_0030906	An disease or disorder caused by infection with Trichomonas tenax.	DOID:0050270
MONDO:0017978	obsolete syndrome with disorder of sex development of gynecological interest	biolink:Disease	mondo	Orphanet:325638|UMLS:CN204125		syndrome with DSD of gynecological interest	http://purl.obolibrary.org/obo/MONDO_0017978		UMLS:CN204125|ORPHA:325638
MONDO:0015315	neonatal brainstem dysfunction	biolink:Disease	mondo	UMLS:CN199283|Orphanet:137929	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015315	Neonatal brainstem dysfunction is a rare neurologic disease characterized by the association of suction-swallowing dysfunction, abnormal laryngeal sensitivity and motility (manifesting with dyspnea or obstructive apnea-hypopnea), gastroesophageal reflux (generally resistant to medication) and cardiac vagal overactivity (e.g. brachycardia, vasovagal episodes) of varying degrees of severity. Impaired social interaction has also been reported.	ORPHA:137929|UMLS:CN199283
MONDO:0015314	primary laryngeal lymphangioma	biolink:Disease	mondo	SCTID:763617006|ICD10:D18.1|Orphanet:137926	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0015314	Primary laryngeal lymphangioma is a rare, benign, congenital malformation of the lymphatic system characterized by a polypoidal, variable-sized, soft tissue mass located in the larynx. Most lesions manifest by the 2nd year of life and, depending on the size, patients may present with changes in voice, dysphagia, stridor, airway obstruction and/or respiratory distress. Cystic hygroma of the neck is frequently associated.	ORPHA:137926|SNOMEDCT:763617006
MONDO:0017979	autoimmune lymphoproliferative syndrome	biolink:Disease	mondo	MedDRA:10069521|ICD10:D89.82|ICD9:279.41|MESH:D056735|ICD10:D47.9|DOID:6688|GARD:0008686|Orphanet:3261|UMLS:C1328840|NCIT:C37864|CSP:1560-5548	ordo_disease	ALPS|Canale-Smith syndrome|ALPS (autoimmune lymphoproliferative syndrome)|autoimmune lymphoproliferative syndrome type 1, autosomal dominant|FAS deficiency	http://purl.obolibrary.org/obo/MONDO_0017979	Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.	NCIT:C37864|MESH:D056735|DOID:6688|UMLS:C1328840|MEDDRA:10069521|ORPHA:3261
MONDO:0015313	choanal atresia, bilateral	biolink:Disease	mondo	Orphanet:137920|UMLS:CN199281|ICD10:Q30.0	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0015313	Bilateral choanal atresia is a congenital anomaly that is usually sporadic (but some familial cases have been reported), is more commonly seen in females than in males (2:1), and where the nose is blocked on both sides by bony or soft tissue formed during embryological development. It is characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth.	ORPHA:137920|UMLS:CN199281
MONDO:0015312	choanal atresia, unilateral	biolink:Disease	mondo	ICD10:Q30.0|UMLS:CN199280|Orphanet:137917	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0015312	Unilateral choanal atresia is a, usually sporadic, congenital anomaly that is more commonly seen in females than in males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and which is characterized by nasal obstruction and rhinorrhea, usually presenting at birth but that may go undetected until a respiratory infection aggravates the condition.	ORPHA:137917|UMLS:CN199280
MONDO:0015319	rare disease with Pierre Robin syndrome	biolink:Disease	mondo	Orphanet:138044|UMLS:CN199290	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015319		UMLS:CN199290|ORPHA:138044
MONDO:0017974	46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors	biolink:Disease	mondo	Orphanet:325537|UMLS:CN227235	ordo_group_of_disorders	46,XY DSD induced by maternal-exposure to endocrine disruptors	http://purl.obolibrary.org/obo/MONDO_0017974		ORPHA:325537|UMLS:CN227235
MONDO:0015318	Pierre Robin syndrome associated with collagen disease	biolink:Disease	mondo	Orphanet:138041|UMLS:CN199289	ordo_group_of_disorders	Pierre Robin sequence associated with collagen disease	http://purl.obolibrary.org/obo/MONDO_0015318		UMLS:CN199289|ORPHA:138041
MONDO:0017975	sex chromosome disorder of sex development	biolink:Disease	mondo	MESH:D058533|Orphanet:325546	ordo_group_of_disorders	Sex chromosome DSD	http://purl.obolibrary.org/obo/MONDO_0017975	Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy; trisomy; and mosaicism.	ORPHA:325546|MESH:D058533
MONDO:0015317	laryngotracheal angioma	biolink:Disease	mondo	ICD9:228.09|Orphanet:137935|ICD10:D18.0|SCTID:703199001|UMLS:C3839574	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015317		ORPHA:137935|SNOMEDCT:703199001|UMLS:C3839574
MONDO:0017976	obsolete disorder of sex development of gynecological interest	biolink:Disease	mondo	UMLS:CN227237|Orphanet:325620		DSD of gynecological interest	http://purl.obolibrary.org/obo/MONDO_0017976		ORPHA:325620|UMLS:CN227237
MONDO:0015316	congenital laryngeal palsy	biolink:Disease	mondo	GARD:0012713|ICD10:J38.0|Orphanet:137932|UMLS:C0396058	gard_rare|ordo_malformation_syndrome	congenital vocal cord paralysis	http://purl.obolibrary.org/obo/MONDO_0015316	Congenital laryngeal palsy is a rare larynx anomaly characterized by unilateral or bilateral paralysis of the vocal cords as a result of dysfunction of the motor nerve supply to the larynx. Patients typically present at birth (or shortly thereafter) with stridor, weak or breathy cry, dysphonia or aphonia, feeding or aspiration difficulties and, occasionally, respiratory compromise. Neurological disease, masses that cause compression and aberrant vessels are often associated. Most cases resolve spontaneously over 6-12 months.	ORPHA:137932|UMLS:C0396058
MONDO:0017977	obsolete 46,XY disorder of sex development of gynecological interest	biolink:Disease	mondo	UMLS:CN227238|Orphanet:325632		46,XY DSD of gynecological interest	http://purl.obolibrary.org/obo/MONDO_0017977		ORPHA:325632|UMLS:CN227238
MONDO:0017970	46,XY disorder of sex development due to impaired androgen production	biolink:Disease	mondo	Orphanet:325357|UMLS:CN227233	ordo_group_of_disorders	46,XY DSD due to impaired androgen production	http://purl.obolibrary.org/obo/MONDO_0017970		ORPHA:325357|UMLS:CN227233
MONDO:0017971	46,XY disorder of sex development due to a cholesterol synthesis defect	biolink:Disease	mondo	UMLS:CN227234|Orphanet:325511	ordo_group_of_disorders	46,XY DSD due to a cholesterol synthesis defect	http://purl.obolibrary.org/obo/MONDO_0017971		ORPHA:325511|UMLS:CN227234
MONDO:0017972	classic congenital lipoid adrenal hyperplasia due to STAR deficency	biolink:Disease	mondo	ICD10:E25.0|Orphanet:325524	ordo_clinical_subtype	classic CLAH	http://purl.obolibrary.org/obo/MONDO_0017972		ORPHA:325524
MONDO:0017973	non-classic congenital lipoid adrenal hyperplasia due to STAR deficency	biolink:Disease	mondo	ICD10:E25.0|Orphanet:325529	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017973		ORPHA:325529
MONDO:0015311	autism-facial port-wine stain syndrome	biolink:Disease	mondo	GARD:0010303|UMLS:CN199278|Orphanet:137911	ordo_malformation_syndrome|gard_rare	autism with port-wine stain	http://purl.obolibrary.org/obo/MONDO_0015311	This syndrome is characterised by the presence of a unilateral angioma on the face and autistic developmental problems characterised by language delay and atypical social interactions.	ORPHA:137911|UMLS:CN199278
MONDO:0003319	scrotum neoplasm	biolink:Disease	mondo	SCTID:126905005|NCIT:C4380|DOID:518|ICD9:187.7|ICD9:239.5|UMLS:C0341790|ICD10:C63.2		scrotum cancer|scrotal neoplasm|scrotal Ca|scrotal tumor|neoplasm of the scrotum|malignant tumor of scrotum|tumor of scrotum|scrotum neoplasm (disease)|malignant scrotal neoplasm|scrotum tumor|malignant tumour of scrotum|tumor of the scrotum|neoplasm of scrotum	http://purl.obolibrary.org/obo/MONDO_0003319	A benign or malignant neoplasm that affects the scrotum.	NCIT:C4380|DOID:518|SNOMEDCT:126905005|UMLS:C0341790
MONDO:0015310	syndromic optic nerve hypoplasia	biolink:Disease	mondo	UMLS:CN226655|Orphanet:137905	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015310		ORPHA:137905|UMLS:CN226655
MONDO:0003337	acute hemorrhagic encephalitis	biolink:Disease	mondo	DOID:5224|UMLS:C1332149|NCIT:C35796		acute hemorrhagic encephalitis	http://purl.obolibrary.org/obo/MONDO_0003337	Acute encephalitis that is characterized by bleeding.	UMLS:C1332149|DOID:5224|NCIT:C35796
MONDO:0030912	intellectual disability, autosomal dominant 47	biolink:Disease	mondo	UMLS:CN429988|OMIM:617635|Orphanet:502434|DOID:0080238	ordo_malformation_syndrome	autosomal dominant mental retardation 47|mental retardation, autosomal dominant 47|MRD47|mental retardation, autosomal dominant 47; MRD47|intellectual disability, autosomal dominant 47|STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome|autosomal dominant intellectual disability 47|intellectual disability, autosomal dominant 47; MRD47	http://purl.obolibrary.org/obo/MONDO_0030912		DOID:0080238|ORPHA:502434|http://identifiers.org/omim/617635|UMLS:CN429988
MONDO:0005999	tuberculous empyema	biolink:Disease	mondo	NCIT:C34575|EFO:0007528|DOID:14305|MESH:D004654|UMLS:C0014014|SCTID:14527007		tuberculous empyema (& pleural)	http://purl.obolibrary.org/obo/MONDO_0005999	An empyema resulting from infection by Mycobacterium tuberculosis.	NCIT:C34575|DOID:14305|SNOMEDCT:14527007|MESH:D004654|UMLS:C0014014
MONDO:0030911	intellectual disability, autosomal dominant 46	biolink:Disease	mondo	UMLS:CN371052|OMIM:617601|DOID:0080237		autosomal dominant mental retardation 46|mental retardation, autosomal dominant 46|intellectual disability, autosomal dominant 46|mental retardation, autosomal dominant 46; MRD46|MRD46|intellectual disability, autosomal dominant 46; MRD46|autosomal dominant intellectual disability 46	http://purl.obolibrary.org/obo/MONDO_0030911		DOID:0080237|UMLS:CN371052|http://identifiers.org/omim/617601
NCBITaxon:34353	Dipodascaceae	organism taxon	mondo	GC_ID:1		anamorphic Dipodascaceae	http://purl.obolibrary.org/obo/NCBITaxon_34353		
MONDO:0003338	obsolete von Economo disease	biolink:Disease	mondo			obsolete von Economo's disease	http://purl.obolibrary.org/obo/MONDO_0003338		
MONDO:0030914	intellectual disability, autosomal dominant 49	biolink:Disease	mondo	DOID:0080234|OMIM:617752|UMLS:CN593636		intellectual disability, autosomal dominant 49|autosomal dominant mental retardation 49|autosomal dominant intellectual disability 49|mental retardation, autosomal dominant 49|intellectual disability, autosomal dominant 49; MRD49|MRD49|mental retardation, autosomal dominant 49; MRD49	http://purl.obolibrary.org/obo/MONDO_0030914		DOID:0080234|http://identifiers.org/omim/617752|UMLS:CN593636
MONDO:0003339	obsolete hepatoerythropoietic porphyria	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003339		
MONDO:0030913	intellectual disability, autosomal dominant 48	biolink:Disease	mondo	OMIM:617751|UMLS:CN580791|DOID:0080235|Orphanet:500159|EFO:0009156	ordo_malformation_syndrome	mental retardation, autosomal dominant 48; MRD48|microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom|intellectual disability, autosomal dominant 48|intellectual disability, autosomal dominant 48; MRD48|autosomal dominant mental retardation 48|autosomal dominant intellectual disability 48|mental retardation, autosomal dominant 48|MRD48	http://purl.obolibrary.org/obo/MONDO_0030913		DOID:0080235|ORPHA:500159|http://identifiers.org/omim/617751|UMLS:CN580791
MONDO:0005996	trichuriasis	biolink:Disease	mondo	GARD:0010720|DOID:1252|ICD10:B79|NCIT:C128399|EFO:0007524|COHD:196907|UMLS:C0040954|MESH:D014257|ICD9:127.3|SCTID:3752003	gard_rare	Trichuris trichiura caused disease or disorder|whipworm disease|trichuriasis infection|Trichuris trichiura disease or disorder|infection by Trichuris trichura|trichocephaliasis|Trichuris trichiura infection|Trichuris trichiura infectious disease|whipworm infection	http://purl.obolibrary.org/obo/MONDO_0005996	An infection that is caused by the nematode Trichuris trichiura, a soil-transmitted helminth, which is transmitted via food and/or water contaminated with the eggs of the worm. Symptoms are usually mild and include abdominal pain, diarrhea, fatigue, and possibly anemia secondary to blood loss in diarrhea.	NCIT:C128399|SNOMEDCT:3752003|DOID:1252|UMLS:C0040954|MESH:D014257
MONDO:0003333	benign struma ovarii	biolink:Disease	mondo	NCIT:C40012|DOID:5209|UMLS:C1511104		struma ovarii, benign|benign struma ovarii	http://purl.obolibrary.org/obo/MONDO_0003333	A mature monodermal teratoma that arises from the ovary and is characterized by the presence of benign, thyroid-type tissues.	DOID:5209|UMLS:C1511104|NCIT:C40012
MONDO:0005995	trichostrongylosis	biolink:Disease	mondo	DOID:1254|EFO:0007523|ICD10:B81.2|UMLS:C0040948|SCTID:33710003|ICD9:127.6|MESH:D014253		infection by Trichostrongylus|Trichostrongylus disease or disorder|Trichostrongylus infectious disease|Trichostrongyliasis|Trichostrongylus caused disease or disorder|infection by Trichostrongylus species	http://purl.obolibrary.org/obo/MONDO_0005995	Infestation with nematode worms of the genus trichostrongylus. Humans become infected by swallowing larvae, usually with contaminated food or drink, although the larvae may penetrate human skin.	SNOMEDCT:33710003|DOID:1254|UMLS:C0040948|MESH:D014253
MONDO:0003334	demyelinating polyneuropathy	biolink:Disease	mondo	ICD9:356.9|DOID:5214|NCIT:C27062|SCTID:23414001|UMLS:C0270922		peripheral demyelinating neuropathy	http://purl.obolibrary.org/obo/MONDO_0003334	Polyneuropathy that is characterized by demyelination of axons.	DOID:5214|UMLS:C0270922|SNOMEDCT:23414001|NCIT:C27062
MONDO:0030910	intellectual disability, autosomal dominant 45	biolink:Disease	mondo	DOID:0080236|UMLS:CN368509|OMIM:617600		autosomal dominant mental retardation 45|intellectual disability, autosomal dominant 45|mental retardation, autosomal dominant 45|intellectual disability, autosomal dominant 45; MRD45|MRD45|mental retardation, autosomal dominant 45; MRD45|autosomal dominant intellectual disability 45	http://purl.obolibrary.org/obo/MONDO_0030910		DOID:0080236|UMLS:CN368509|http://identifiers.org/omim/617600
MONDO:0003335	chronic polyneuropathy	biolink:Disease	mondo	UMLS:C1167650|DOID:5221|NCIT:C36071		polyneuropathy, chronic	http://purl.obolibrary.org/obo/MONDO_0003335	Polyneuropathy that is persistent or long-standing in nature.	DOID:5221|UMLS:C1167650|NCIT:C36071
MONDO:0005998	trombiculiasis	biolink:Disease	mondo	EFO:0007526|MESH:D014323|DOID:8399|UMLS:C0041170		Trombiculidae disease or disorder|Trombiculidae infectious disease|Trombiculidae caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005998	Infestation with mites of the genus Trombiculidae, whose larvae carry the rickettsial agent of scrub typhus.	UMLS:C0041170|DOID:8399|MESH:D014323
UBERON:0012172	stomach primordium	biolink:AnatomicalEntity	mondo			stomach endoderm	http://purl.obolibrary.org/obo/UBERON_0012172	A primordium that has the potential to develop into a stomach.	
MONDO:0003336	acute necrotizing encephalitis	biolink:Disease	mondo	ICD9:049.8|NCIT:C35383|GARD:0013233|DOID:5222|SCTID:111897007|UMLS:C0338418	gard_rare	acute necrotizing encephalopathy|ANE|acute necrotizing encephalitis	http://purl.obolibrary.org/obo/MONDO_0003336	A fulminant and often fatal demyelinating disease of the brain which primarily affects young adults and children. Clinical features include the rapid onset of weakness, seizures, and coma. It may follow a viral illness or mycoplasma pneumoniae infections but in most instances there is no precipitating event. Pathologic examination reveals marked perivascular demyelination and necrosis of white matter with microhemorrhages. (Adams et al., Principles of Neurology, 6th ed, pp924-5)	NCIT:C35383|DOID:5222|UMLS:C0338418|SNOMEDCT:111897007
MONDO:0005997	tricuspid valve stenosis	biolink:Disease	mondo	HP:0010446|DOID:4078|EFO:0007525|UMLS:C0040963|MESH:D014264|SCTID:49915006		tricuspid stenosis	http://purl.obolibrary.org/obo/MONDO_0005997	Narrowing or stricture of the tricuspid orifice of the heart.	DOID:4078|SNOMEDCT:49915006|NCIT:C50783|UMLS:C0040963|MESH:D014264
MONDO:0005992	trichinosis	biolink:Disease	mondo	ICD9:124|ICD10:B75|EFO:0007520|DOID:9784|NCIT:C85199		Trichinella spiralis infection|Trichinella disease or disorder|Trichinellosis|Trichinella infectious disease|Trichinella caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005992	A parasitic infection caused by larvae of worms of the genus Trichinella. It is transmitted to humans by ingesting raw or undercooked meat from infected animals. Signs and symptoms include abdominal discomfort, nausea, vomiting, fever, diarrhea, headache, coughing, myalgias, arthralgias, and eye swelling.	NCIT:C85199|DOID:9784
MONDO:0030919	intellectual disability, autosomal dominant 53	biolink:Disease	mondo	DOID:0080228|EFO:0009165|OMIM:617798		mental retardation, autosomal dominant 53; MRD53|intellectual disability, autosomal dominant 53|mental retardation, autosomal dominant 53|MRD53|autosomal dominant intellectual disability 53|autosomal dominant mental retardation 53|intellectual disability, autosomal dominant 53; MRD53	http://purl.obolibrary.org/obo/MONDO_0030919		DOID:0080228|http://identifiers.org/omim/617798
MONDO:0005991	trench fever	biolink:Disease	mondo	MedDRA:10044582|ICD10:A79.0|ICD9:083.1|SCTID:82214002|UMLS:C0040830|Orphanet:64694|MESH:D014205|EFO:0007519|DOID:11101	ordo_disease	quintan fever|trench fever|Bartonella quintana infectious disease|Bartonella quintana caused disease or disorder|bartonellosis due to Bartonella quintana infection|Bartonella quintana disease or disorder|fever, trench|trench fevers|Wolhynian fever|shin bone fever|tibialgic fever|His-Werner disease|fevers, trench	http://purl.obolibrary.org/obo/MONDO_0005991	An intermittent fever characterized by intervals of chills, fever, and splenomegaly each of which may last as long as 40 hours. It is caused by bartonella quintana and transmitted by the human louse.	DOID:11101|UMLS:C0040830|MEDDRA:10044582|ORPHA:64694|MESH:D014205|SNOMEDCT:82214002
UBERON:0012177	skin apocrine gland	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0012177	An apocrine gland that is part of a skin of body.	
MONDO:0003330	urinary tract obstruction	biolink:Disease	mondo	SCTID:7163005|DOID:5200|ICD10:N13.9|COHD:194406|ICD9:599.6|UMLS:C0178879|NCIT:C3675|ICD9:599.60		urinary obstruction|obstructive uropathy	http://purl.obolibrary.org/obo/MONDO_0003330	Blockage of the normal flow of contents of the urinary tract.	SNOMEDCT:7163005|UMLS:C0178879|NCIT:C79805|NCIT:C3675|DOID:5200
MONDO:0003331	ovarian monodermal teratoma	biolink:Disease	mondo	DOID:5207|NCIT:C7286|UMLS:C1302569		monodermal teratoma|ovarian monodermal teratoma|monodermal teratoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003331	A teratoma that arises from the ovary and is characterized by the presence of tissues derived exclusively from one embryonic germ cell layer.	UMLS:C1302569|NCIT:C7286|DOID:5207
MONDO:0005994	trichostrongyloidiasis	biolink:Disease	mondo	DOID:1255|MESH:D014252|EFO:0007522|UMLS:C0040947		Trichostrongyloidea infectious disease|Trichostrongyloidea caused disease or disorder|Trichostrongyloidea disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005994	Infection by roundworms of the superfamily trichostrongyloidea, including the genera trichostrongylus; ostertagia; Cooperia, haemonchus; Nematodirus, Hyostrongylus, and dictyocaulus.	DOID:1255|UMLS:C0040947|MESH:D014252
MONDO:0005993	Trichomonas vaginitis urogenital infection	biolink:Disease	mondo	ICD10:A59.0|NCIT:C35083|DOID:0050269|ICD9:131.09|EFO:0007521|ICD9:131.00|SCTID:35089004|ICD10:A59.00|MESH:D014247		urogenital trichomoniasis|urogenital Trichomonas|Trichomonas vaginalis trichomoniasis|Trichomonas vaginalis caused disease of genitourinary system|Trichomonas vaginitis|Trichomonas vaginalis disease of genitourinary system|urogenital infection by Trichomonas vaginalis|urogenital infection caused by Trichomonas vaginalis	http://purl.obolibrary.org/obo/MONDO_0005993	A sexually transmitted parasitic infection caused by Trichomonas vaginalis. Symptoms include vaginal discharge, vaginal odor, vaginal itching, and discomfort during intercourse.	DOID:0050269|SNOMEDCT:35089004|MESH:D014247|NCIT:C35083
MONDO:0003332	malignant struma ovarii	biolink:Disease	mondo	NCIT:C4291|ICDO:9090/3|UMLS:C0334525|DOID:5208		struma ovarii, malignant (morphologic abnormality)|struma ovarii, malignant	http://purl.obolibrary.org/obo/MONDO_0003332	An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue with morphologic changes identical to thyroid carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or with Meigs syndrome (ascites and pleural effusion).	DOID:5208|NCIT:C4291|UMLS:C0334525
UBERON:0012175	acoustico-facial VII-VIII ganglion complex	biolink:AnatomicalEntity	mondo			facio-acoustic VII-VIII ganglion complex|facio-acoustic ganglion|facio-acoustic ganglion complex VII-VIII|facio-acoustic ganglion complex|acousticofacial ganglion	http://purl.obolibrary.org/obo/UBERON_0012175		
MONDO:0030916	intellectual disability, autosomal dominant 50	biolink:Disease	mondo	UMLS:CN671930|OMIM:617787|DOID:0080233		mental retardation, autosomal dominant 50|intellectual disability, autosomal dominant 50|autosomal dominant intellectual disability 50|autosomal dominant mental retardation 50|MRD50|mental retardation, autosomal dominant 50; MRD50|intellectual disability, autosomal dominant 50; MRD50	http://purl.obolibrary.org/obo/MONDO_0030916		UMLS:CN671930|DOID:0080233|http://identifiers.org/omim/617787
MONDO:0030915	intellectual disability, autosomal recessive 61	biolink:Disease	mondo	OMIM:617773|UMLS:CN651335|DOID:0080239		autosomal recessive mental retardation 61|mental retardation, autosomal recessive 61|mental retardation, autosomal recessive 61; MRT61|autosomal recessive intellectual disability 61|MRT61|Alwadei syndrome|intellectual disability, autosomal recessive 61|intellectual disability, autosomal recessive 61; MRT61	http://purl.obolibrary.org/obo/MONDO_0030915	An autosomal recessive non-syndromic intellectual disability that has material basis in an autosomal recessive mutation of the RUSC2 gene on chromosome 9p13.	DOID:0080239|UMLS:CN651335|http://identifiers.org/omim/617773
MONDO:0005990	tracheitis	biolink:Disease	mondo	UMLS:C0040584|NCIT:C78643|MESH:D014136|UMLS:C0149513|DOID:9392|UMLS:C0264322|ICD9:464.1|SCTID:62994001|EFO:0007518|ICD10:J04.1		tracheal Inflammation|acute tracheitis|chronic tracheitis|tracheal mucosa inflammation|inflammation of tracheal mucosa	http://purl.obolibrary.org/obo/MONDO_0005990	An inflammatory process affecting the wall of the trachea.	UMLS:C0264322|UMLS:C0040584|DOID:9392|UMLS:C0149513|SNOMEDCT:62994001|NCIT:C78643|MESH:D014136
MONDO:0030918	intellectual disability, autosomal dominant 52	biolink:Disease	mondo	EFO:0009152|OMIM:617796|DOID:0080231|UMLS:CN671932		mental retardation, autosomal dominant 52; MRD52|mental retardation, autosomal dominant 52|MRD52|autosomal dominant mental retardation 52|intellectual disability, autosomal dominant 52; MRD52|autosomal dominant intellectual disability 52|intellectual disability, autosomal dominant 52	http://purl.obolibrary.org/obo/MONDO_0030918		UMLS:CN671932|DOID:0080231|http://identifiers.org/omim/617796
NCBITaxon:201174	Actinobacteria <actinobacteria>	organism taxon	mondo	GC_ID:11|PMID:29458499|PMID:16280504|PMID:26654112|PMID:11837318		Actinobacteriota|Actinobacteraeota|Actinobacteria|actinobacteria	http://purl.obolibrary.org/obo/NCBITaxon_201174		
MONDO:0030917	intellectual disability, autosomal dominant 51	biolink:Disease	mondo	OMIM:617788|DOID:0080232|UMLS:CN671931		autosomal dominant intellectual disability 51|mental retardation, autosomal dominant 51|intellectual disability, autosomal dominant 51|MRD51|autosomal dominant mental retardation 51|mental retardation, autosomal dominant 51; MRD51|intellectual disability, autosomal dominant 51; MRD51	http://purl.obolibrary.org/obo/MONDO_0030917		UMLS:CN671931|DOID:0080232|http://identifiers.org/omim/617788
MONDO:0015304	arachnoiditis	biolink:Disease	mondo	Orphanet:137817|UMLS:C0270617|NCIT:C37913|MESH:D001100|ICD10:G03|MedDRA:10003074|SCTID:13980006|ICD10:G03.9|UMLS:C0003708|GARD:0005839|DOID:12156	ordo_disease	inflammation of arachnoid mater|chronic arachnoiditis|adhesive arachnoiditis|arachnoid mater inflammation	http://purl.obolibrary.org/obo/MONDO_0015304	Arachnoiditis (ARC) is a chronic inflammation of the arachnoid layer of the meninges, of which adhesive arachnoiditis is the most severe form, characterized by debilitating, intractable neurogenic back and limb pain and a range of other neurological problems.	NCIT:C37913|UMLS:C0003708|MESH:D001100|ORPHA:137817|UMLS:C0270617|MEDDRA:10003074|DOID:12156|SNOMEDCT:13980006
MONDO:0017967	testicular agenesis	biolink:Disease	mondo	GARD:0005819|SCTID:371015003|Orphanet:325124|ICD10:Q55.0	ordo_morphological_anomaly	absence of testes|bilateral anorchia|anorchia|empty scrotum|congenital absence of testes	http://purl.obolibrary.org/obo/MONDO_0017967		SNOMEDCT:371015003|ORPHA:325124
MONDO:0017968	46,XY ovotesticular disorder of sex development	biolink:Disease	mondo	SCTID:763683004|Orphanet:325345|UMLS:CN227231	ordo_disease	46,XY ovotesticular DSD	http://purl.obolibrary.org/obo/MONDO_0017968	46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumours are frequently associated.	UMLS:CN227231|SNOMEDCT:763683004|ORPHA:325345
MONDO:0015303	macular amyloidosis	biolink:Disease	mondo	Orphanet:137814|ICD10:E85.4+|ICD10:L99.0*|UMLS:C0544839	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015303	Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis.	UMLS:C0544839|ORPHA:137814
MONDO:0015302	nodular cutaneous amyloidosis	biolink:Disease	mondo	ICD10:L99.0*|Orphanet:137810|UMLS:C0546394|GARD:0010562|ICD10:E85.4+|MedDRA:10056953|UMLS:C4274331|SCTID:716704007	ordo_disease|gard_rare	primary localized cutaneous nodular amyloidosis|amyloidosis nodular localized cutaneous|NLCA|PLCNA|amyloidosis cutis nodularis atrophicans	http://purl.obolibrary.org/obo/MONDO_0015302	Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as SjC6grenBs syndrome and CREST syndrome.	UMLS:C4274331|SNOMEDCT:716704007|ORPHA:137810|UMLS:C0546394|MEDDRA:10056953
MONDO:0017969	46,XY disorder of sex development of endocrine origin	biolink:Disease	mondo	Orphanet:325351|UMLS:CN227232	ordo_group_of_disorders	46,XY DSD of endocrine origin	http://purl.obolibrary.org/obo/MONDO_0017969		UMLS:CN227232|ORPHA:325351
MONDO:0015301	primary cutaneous amyloidosis	biolink:Disease	mondo	ICD10:E85.4+|UMLS:C0268397|Orphanet:137807|MESH:C562642|ICD10:L99.0*|MedDRA:10011659|OMIMPS:105250|SCTID:282834007|DOID:0050639	ordo_group_of_disorders	primary localized cutaneous amyloidosis|PLCA|PCA|amyloidosis, primary localized cutaneous|familial primary localized cutaneous amyloidosis	http://purl.obolibrary.org/obo/MONDO_0015301	Cutaneous amyloidosis refers to a variety of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis.	ORPHA:137807|MEDDRA:10011659|DOID:0050639|MESH:C562642|UMLS:C0268397|SNOMEDCT:282834007
MONDO:0015308	laminopathy type Decaudain-Vigouroux	biolink:Disease	mondo	ICD10:E88.8|UMLS:C4518324|SCTID:724205009|Orphanet:137871	ordo_disease	laminopathy with severe metabolic syndrome and myopathy	http://purl.obolibrary.org/obo/MONDO_0015308	Laminopathy, type Decaudain-Vigouroux is characterised by severe metabolic alterations (insulin resistance or hyperinsulinaemia, hypertriglyceridaemia with low HDL-cholesterol, and altered glucose tolerance) and muscular hypertrophy, myalgia, or weakness.	UMLS:C4518324|SNOMEDCT:724205009|ORPHA:137871
MONDO:0017963	46,XX disorder of sex development induced by endogenous maternal-derived androgen	biolink:Disease	mondo	Orphanet:325093|UMLS:CN227227|ICD10:Q56.2	ordo_group_of_disorders	46,XX DSD induced by endogenous maternal-derived androgen	http://purl.obolibrary.org/obo/MONDO_0017963		ORPHA:325093|UMLS:CN227227
MONDO:0015307	Madras motor neuron disease	biolink:Disease	mondo	GARD:0010742|Orphanet:137867|UMLS:C0393551|ICD10:G12.2	ordo_disease	MMND	http://purl.obolibrary.org/obo/MONDO_0015307	Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss.	UMLS:C0393551|ORPHA:137867
MONDO:0017964	46,XX disorder of sex development induced by exogenous maternal-derived androgen	biolink:Disease	mondo	UMLS:CN227228|ICD10:Q56.2|Orphanet:325099	ordo_group_of_disorders	46,XX DSD induced by exogenous maternal-derived androgen	http://purl.obolibrary.org/obo/MONDO_0017964		ORPHA:325099|UMLS:CN227228
MONDO:0015306	Lemierre syndrome	biolink:Disease	mondo	Orphanet:137839|SCTID:52542005|MedDRA:10065552|ICD10:I80.8|DOID:11337|MESH:D057831|ICD9:040.3|GARD:0006882	gard_rare|ordo_disease	Lemierre postanginal sepsis|postanginal sepsis|acute sore throat|postanginal sepsis secondary to orophyngeal infection|Lemierre syndrome|septic phlebitis of the internal jugular vein|necrobacillosis|Lemierre's syndrome|oropharyngeal infection leading to secondary septic thrombophlebitis of the internal jugular vein|human necrobacillosis	http://purl.obolibrary.org/obo/MONDO_0015306	Lemierre syndrome is a rare, potentially lethal, oropharyngeal infectious disease occurring in immunocompetent adolescents and young adults that is mainly due to Fusobacterium necrophorum and that is characterized by septic thrombophlebitis of the internal jugular vein that leads to septic, usually pulmonary, embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain, and tonsillopharyngitis.	MESH:D057831|ORPHA:137839|MEDDRA:10065552|UMLS:C0343525|DOID:11337|SNOMEDCT:52542005
MONDO:0017965	syndrome with 46,XX disorder of sex development	biolink:Disease	mondo	Orphanet:325109|UMLS:CN204115	ordo_group_of_disorders	syndrome with 46,XX DSD	http://purl.obolibrary.org/obo/MONDO_0017965		ORPHA:325109|UMLS:CN204115
MONDO:0017966	46,XY disorder of gonadal development	biolink:Disease	mondo	UMLS:CN227229|Orphanet:325118	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017966		UMLS:CN227229|ORPHA:325118
MONDO:0015305	obsolete rare endometriosis	biolink:Disease	mondo	SCTID:237117005|Orphanet:137820|UMLS:C0404545	ordo_disease|obsoletion_candidate	endometriosis outside pelvis|rare endometriosis|extrapelvic endometriosis|rare endometriosis (disease)	http://purl.obolibrary.org/obo/MONDO_0015305	Rare endometriosis.	ORPHA:137820|SNOMEDCT:237117005|UMLS:C0404545
MONDO:0017960	obsolete CANDLE syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0017960		
MONDO:0017961	46,XX disorder of gonadal development	biolink:Disease	mondo	UMLS:CN227225|Orphanet:325055	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017961		ORPHA:325055|UMLS:CN227225
GO:0071214	cellular response to abiotic stimulus	biolink:OntologyClass	mondo			cellular response to abiotic stress	http://purl.obolibrary.org/obo/GO_0071214	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an abiotic (non-living) stimulus.	
MONDO:0017962	46,XX disorder of sex development induced by fetoplacental androgens excess	biolink:Disease	mondo	Orphanet:325061|UMLS:CN227226	ordo_group_of_disorders	46,XX DSD induced by fetoplacental androgens excess	http://purl.obolibrary.org/obo/MONDO_0017962		ORPHA:325061|UMLS:CN227226
MONDO:0015300	cataract - microcornea syndrome	biolink:Disease	mondo	ICD10:Q13.8|Orphanet:1377|MESH:C538287|GARD:0001155	gard_rare|ordo_malformation_syndrome	cataract microcornea syndrome|microcornea cataract syndrome	http://purl.obolibrary.org/obo/MONDO_0015300	Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism.	MESH:C538287|ORPHA:1377|UMLS:C1861829
UBERON:0000199	neck of radius	biolink:AnatomicalEntity	mondo			radial neck|collum radii	http://purl.obolibrary.org/obo/UBERON_0000199	The narrow part of the shaft of the radius just below the head.	
ECTO:0000509	drug exposure	biolink:OntologyClass	mondo			exposure to drug	http://purl.obolibrary.org/obo/ECTO_0000509	An exposure to drug.	
GO:0009411	response to UV	biolink:OntologyClass	mondo			response to ultraviolet light stimulus|response to UV light stimulus|response to ultraviolet radiation stimulus|response to UV radiation stimulus	http://purl.obolibrary.org/obo/GO_0009411	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers.	
UBERON:0002401	visceral pleura	biolink:AnatomicalEntity	mondo			pleura visceralis (pulmonalis)|pleura visceralis|lung pleura|pulmonary visceral pleura|pulmonary pleura|pleura pulmonalis|lung mesothelium	http://purl.obolibrary.org/obo/UBERON_0002401	The inner serous membrane of the pulmonary pleural. The visceral pleura lines the lungs.	
UBERON:0002400	parietal pleura	biolink:AnatomicalEntity	mondo			pleura parietalis	http://purl.obolibrary.org/obo/UBERON_0002400	The outer serous membrane of the pulmonary pleural.	
GO:0009416	response to light stimulus	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0009416	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a light stimulus, electromagnetic radiation of wavelengths classified as infrared, visible or ultraviolet light.	
UBERON:0002402	pleural cavity	biolink:AnatomicalEntity	mondo			cavitum pleuralae|cavitum pleurale|cavitas pleuralis	http://purl.obolibrary.org/obo/UBERON_0002402	The fluid-filled cavity that lies between the visceral and parietal pleurae.	
ECTO:0000515	herbicide exposure	biolink:OntologyClass	mondo			exposure to herbicide	http://purl.obolibrary.org/obo/ECTO_0000515	An exposure to herbicide.	
ECTO:0000516	hormone exposure	biolink:OntologyClass	mondo			exposure to hormone	http://purl.obolibrary.org/obo/ECTO_0000516	An exposure to hormone.	
ECTO:0000522	mitochondrial respiratory-chain inhibitor exposure	biolink:OntologyClass	mondo			exposure to mitochondrial respiratory-chain inhibitor	http://purl.obolibrary.org/obo/ECTO_0000522	An exposure to mitochondrial respiratory-chain inhibitor.	
CHEBI:60242	monovalent inorganic cation	biolink:ChemicalSubstance	mondo			a monovalent cation	http://purl.obolibrary.org/obo/CHEBI_60242	An atom or small molecule with a positive charge that does not contain carbon in covalent linkage, with a valency of one.	
CHEBI:35238	amino acid zwitterion	biolink:ChemicalSubstance	mondo			amino acid zwitterion	http://purl.obolibrary.org/obo/CHEBI_35238	The zwitterionic form of an amino acid having a negatively charged carboxyl group and a positively charged amino group.	
CHEBI:35230	fossil fuel	biolink:ChemicalSubstance	mondo			fossil fuel	http://purl.obolibrary.org/obo/CHEBI_35230	A fuel such as coal, oil and natural gas which has formed over many years through the decomposition of deposited vegetation which was under extreme pressure of an overburden of earth.	
CL:0002087	nongranular leukocyte	biolink:Cell	mondo	FMA:62855		agranular leukocyte	http://purl.obolibrary.org/obo/CL_0002087	A leukocyte that lacks granules.	
CHEBI:50860	organic molecular entity	biolink:ChemicalSubstance	mondo			organic entity|organic molecular entities|organic compounds	http://purl.obolibrary.org/obo/CHEBI_50860	Any molecular entity that contains carbon.	
MONDO:0005802	hymenolepiasis	biolink:Disease	mondo	ICD9:123.6|Orphanet:401|DOID:10074|MedDRA:10020546|MESH:D006925|NCIT:C84768|ICD10:B71.0|UMLS:C0020413|UMLS:C0277045|EFO:0007317|GARD:0002787|SCTID:44917000	ordo_disease|gard_rare	Hymenolepsis infection|hymenolepiasis|Hymenolepis infectious disease|dwarf tapeworm infection	http://purl.obolibrary.org/obo/MONDO_0005802	A parasitic infection caused by tapeworms. Most infected individuals do not have symptoms. When symptoms appear, they include diarrhea, abdominal pain, restlessness, and irritability.	MEDDRA:10020546|SNOMEDCT:44917000|DOID:10074|MESH:D006925|NCIT:C84768|UMLS:C0020413|UMLS:C0277045|ORPHA:401
MONDO:0005801	human T-lymphotropic virus 1 infectious disease	biolink:Disease	mondo	GARD:0009645|UMLS:C0020097|EFO:0007316|MESH:D015490	gard_rare	Human T lymphotropic virus type 1|human T-lymphotropic virus 1 infectious disease|Human T-lymphotropic virus 1 infectious disease|Human T-lymphotropic virus 1 caused disease or disorder|HTLV-1|Human T-lymphotropic virus 1 disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005801	A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has material basis in Human T-lymphotropic virus 1, which is transmitted by sexual contact, transmitted by contaminated needles used by intravenous-drug users, and transmitted by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder.	UMLS:C0020097|MESH:D015490
MONDO:0005804	hyperprolactinemia (disease)	biolink:Disease	mondo	UMLS:C0020514|HP:0000870|SCTID:237662005|MESH:D006966|ICD9:253.1|EFO:0007319|ICD10:E22.1|COHD:4030186		hyperprolactinaemia|syndrome, prolactin hypersecretion|hyperprolactinemias|inappropriate secretion prolactin|inappropriate prolactin secretion|hyperprolactinemia|secretion prolactin, inappropriate|prolactin secretion, inappropriate|prolactin, inappropriate secretion|secretion, inappropriate prolactin|hypersecretion syndrome, prolactin|inappropriate prolactin secretion syndrome|prolactin hypersecretion syndrome	http://purl.obolibrary.org/obo/MONDO_0005804	Abnormally high level of prolactin in the blood.	NCIT:C113168|MESH:D006966|UMLS:C0020514|SNOMEDCT:237662005
MONDO:0005803	hyperinsulinemic hypoglycemia (disease)	biolink:Disease	mondo	SCTID:42681006|DOID:13317|HP:0000825|ICD10:E16.9|EFO:0007318		hyperinsulinemic hypoglycemia|nesidioblastosis|islet cell hyperplasia|persistent hyperinsulinemia hypoglycemia of infancy	http://purl.obolibrary.org/obo/MONDO_0005803	An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene kcnj11 or the atp-binding cassette transporter gene abcc8, both on chromosome 11.	SNOMEDCT:42681006|DOID:13317
NCBITaxon:83553		organism taxon	mondo				http://purl.obolibrary.org/obo/NCBITaxon_83553		
UBERON:0002437	cerebral hemisphere white matter	biolink:AnatomicalEntity	mondo			cerebral white matter|region of cerebral white matter|substantia medullaris cerebri|cerebral hemisphere white matter|white matter structure of cerebral hemisphere|hemisphere white matter	http://purl.obolibrary.org/obo/UBERON_0002437	White matter that is part of a cerebral hemisphere.	
MONDO:0005800	hordeolum	biolink:Disease	mondo	UMLS:C0019917|DOID:9909|SCTID:397513003|MESH:D006726|NCIT:C118722|EFO:0007315|ICD10:H00.01		blepharitis of eyelid gland|Stye|eyelid gland blepharitis|boil of eyelid|furuncle of eyelid	http://purl.obolibrary.org/obo/MONDO_0005800	An acute, localized swelling of the eyelid that may be external or internal and usually is a pyogenic (typically staphylococcal) infection or abscess.	UMLS:C0019917|MESH:D006726|DOID:9909|NCIT:C118722|SNOMEDCT:397513003
CHEBI:35219	plant growth retardant	biolink:ChemicalSubstance	mondo			plant growth inhibitor|plant growth retardants|plant growth inhibitors	http://purl.obolibrary.org/obo/CHEBI_35219		
CHEBI:50858	corticosteroid	biolink:ChemicalSubstance	mondo			corticosteroides|corticoides|corticosteroids	http://purl.obolibrary.org/obo/CHEBI_50858	A natural or synthetic analogue of the hormones secreted by the adrenal gland.	
HGNC:9305	PPP2R2B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9305		
UBERON:0002445	ulnare	biolink:AnatomicalEntity	mondo			cuneiform of hand|triquetrum|triquetral bone|triangular|ulnar carpal bone|cuneiform bone of manus|triquetral|triangular bone|os ulnare|os triquetrum|cuneiform bone of hand	http://purl.obolibrary.org/obo/UBERON_0002445	The postaxial bone of the proximal carpal region. Found in close approximation to the ulna, often in articulation[PHENOSCAPE:ad].	
UBERON:0002446	patella	biolink:AnatomicalEntity	mondo			knee cap|knee bone|patella	http://purl.obolibrary.org/obo/UBERON_0002446	A large sesamoid bone found in the distal femur/proximal tibial region of the hindlimb of tetrapods. The patella is the attachment site for proximal hindlimb tendons.[PHENOSCAPE:ad]	
CL:0002063	type II pneumocyte	biolink:Cell	mondo	BTO:0000538|FMA:62501		granular pneumocyte|cuboidal type II cell|great alveolar cell|type II alveolocyte|lung type II cell|TII|ATII|type 2 alveolar epithelial cell|type II alveolar cell|AT2|type 2 alveolocyte|type 2 pneumocyte|type II alveolar epithelial cell|lung type 2 cell	http://purl.obolibrary.org/obo/CL_0002063	A type II pneumocyte is a pneumocyte that modulates the fluid surrounding the alveolar epithelium by secreting and recycling surfactants. This cell type also contributes to tissue repair and can differentiate after injury into a type I pneumocyte. Thicker than squamous alveolar cells, have a rounded apical surface that projects above the level of surrounding epithelium. The free surface is covered by short microvilli.	
HGNC:9302	PPP2R1A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9302		
HGNC:9303	PPP2R1B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9303		
UBERON:0002443	choroidal blood vessel	biolink:AnatomicalEntity	mondo			blood vessel of posterior uvea|blood vessel of choroid coat|vasa sanguinea choroideae|choroid coat blood vessel|choroidea blood vessel|posterior uvea blood vessel|blood vessel of choroid|choroid blood vessels set|choroid blood vessel|set of choroid blood vessels|blood vessel of choroidea|choroid blood vessels	http://purl.obolibrary.org/obo/UBERON_0002443	A blood vessel that is part of a choroid [Automatically generated definition].	
CL:0002064	pancreatic acinar cell	biolink:Cell	mondo	FMA:63032|CALOHA:TS-0737|BTO:0000028		acinar cell of pancreas	http://purl.obolibrary.org/obo/CL_0002064	A secretory cell found in pancreatic acini that secretes digestive enzymes and mucins. This cell is a typical zymogenic cell, have a basal nucleus and basophilic cytoplasm consisting of regular arrays of granular endoplasmic reticulum with mitochondria and dense secretory granules.	
MONDO:0005813	interdigitating dendritic cell sarcoma	biolink:Disease	mondo	SCTID:715664005|DOID:7848|ONCOTREE:IDCS|NCIT:C9282|MESH:D054739|EFO:0007329|ICDO:9757/3|ICD10:C96.4|ICDO:9757/1		interdigitating cell sarcoma|interdigitating Dendritic cell sarcoma|interdigitating cell sarcoma/tumor|interdigitating Dendritic cell sarcoma/tumor	http://purl.obolibrary.org/obo/MONDO_0005813	A neoplastic proliferation of spindle to ovoid cells which show phenotypic features similar to those of interdigitating dendritic cells. The clinical course is generally aggressive. (WHO, 2008)	DOID:7848|NCIT:C9282|SNOMEDCT:715664005|MESH:D054739
MONDO:0005812	influenza	biolink:Disease	mondo	ICD10:J11.1|DOID:8469|MESH:D007251|ICD9:487|NCIT:C53482|EFO:0007328|SCTID:61700007|COHD:320752|ICD9:487.8		influenza with non-respiratory manifestation|influenza infection|Influenza with other manifestations|flu	http://purl.obolibrary.org/obo/MONDO_0005812	An acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated A, B, and C, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system.	SNOMEDCT:61700007|DOID:8469|NCIT:C53482|MESH:D007251
MONDO:0005815	pancreatic neuroendocrine neoplasm	biolink:Disease	mondo	EFO:0007331|GARD:0007311|ICD10:D13.7|NCIT:C27031|DOID:1799|ICD10:C25.4|Orphanet:506052|SCTID:254611009|ICDO:8150/1	ordo_group_of_disorders	pancreatic NEN|pancreatic endocrine neoplasm|endocrine pancreas neoplasm|tumor of endocrine pancreas|malignant pancreatic endocrine tumor|islet cell tumour|PNEN|islet cell neoplasm|endocrine pancreas neoplasm (disease)|Islet cell tumors|pancreatic neuroendocrine neoplasm|neuroendocrine neoplasm of pancreas|Islet of Langerhans tumor|islet cell tumor|neoplasm of endocrine pancreas|endocrine pancreas cancer|endocrine pancreas tumor|malignant tumor of endocrine pancreas	http://purl.obolibrary.org/obo/MONDO_0005815	A neoplasm with neuroendocrine differentiation that arises from the pancreas. It includes neuroendocrine tumors (low and intermediate grade) and neuroendocrine carcinomas (high grade).	ORPHA:506052|DOID:1799|SNOMEDCT:254611009|NCIT:C27031
HGNC:39080	KCNJ18	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/39080		
MONDO:0005814	intestinal cancer	biolink:Disease	mondo	ICD10:C26.0|UMLS:C0346627|SCTID:363508008|MESH:D007414|EFO:0007330|DOID:10155|ICD9:159.0|NCIT:C4572		bowel cancer|malignant intestinal neoplasm|intestine cancer|intestinal tumors, malignant|malignant neoplasm of intestine|malignant neoplasm of the intestine|intestinal cancer|intestinal neoplasms, malignant|malignant intestine tumor|malignant intestinal tumor|malignant intestinal neoplasms|malignant intestinal tumors|cancer of intestine|malignant tumor of the intestine|malignant tumor of intestine|malignant intestine neoplasm|cancer of the intestine	http://purl.obolibrary.org/obo/MONDO_0005814	A malignant neoplasm involving the intestine	DOID:10155|NCIT:C4572|UMLS:C0346627|SNOMEDCT:363508008|MESH:D007414
CHEBI:50846	immunomodulator	biolink:ChemicalSubstance	mondo			Immunological factor|immunomodulators|Immunologic factor|Immune factor|Biomodulator	http://purl.obolibrary.org/obo/CHEBI_50846	Biologically active substance whose activity affects or plays a role in the functioning of the immune system.	
UBERON:0002427	arm skin	biolink:AnatomicalEntity	mondo			skin of arm|brachial region skin	http://purl.obolibrary.org/obo/UBERON_0002427	A zone of skin that is part of an arm [Automatically generated definition].	
UBERON:0002426	chest muscle	biolink:AnatomicalEntity	mondo			anterior thoracic region muscle organ|muscle organ of anterolateral part of thorax|muscle of thorax|muscle organ of chest|muscle organ of front of thorax|anterolateral part of thorax muscle organ|muscle organ of anterior thoracic region|musculus thoracicus|front of thorax muscle organ|chest muscle organ|thoracic muscle	http://purl.obolibrary.org/obo/UBERON_0002426	Any muscle organ that is part of a chest [Automatically generated definition].	
UBERON:0002429	cervical lymph node	biolink:AnatomicalEntity	mondo			lymph node of neck	http://purl.obolibrary.org/obo/UBERON_0002429	Cervical lymph nodes are lymph nodes found in the neck. [WP,unvetted].	
MONDO:0005811	infectious myxomatosis	biolink:Disease	mondo	MESH:D009234|EFO:0007327|UMLS:C0027152			http://purl.obolibrary.org/obo/MONDO_0005811	A viral infectious disease that results in infection located in eyes or located in upper respiratory tract of domestic rabbits, has material basis in Myxoma virus, which is transmitted by mosquitos, transmitted by biting flies or transmitted by direct contact. The infection has symptom conjunctivitis with a milky discharge from the inflamed eye and has symptom breathing difficulties.	UMLS:C0027152|MESH:D009234
MONDO:0005810	infectious mononucleosis	biolink:Disease	mondo	UMLS:C0021345|ICD10:B27.0|COHD:437784|ICD10:B27|MESH:D007244|ICD9:075|DOID:8568|ICD10:B27.9|EFO:0007326|NCIT:C34726|SCTID:186668002		Filatov's disease|Gammaherpesviral mononucleosis|monocytic angina|Mono|mononucleosis|Pfeiffer's disease|glandular fever	http://purl.obolibrary.org/obo/MONDO_0005810	A condition characterized by an increase in mononuclear white blood cells and swollen lymph nodes, which is usually caused by infection with the Epstein-Barr virus.	UMLS:C0021345|DOID:8568|SNOMEDCT:186668002|NCIT:C34726|MESH:D007244
UBERON:0002428	limb bone	biolink:AnatomicalEntity	mondo			bone of extremity|bone of limb|free limb bone	http://purl.obolibrary.org/obo/UBERON_0002428	A bone that is part of a limb [Automatically generated definition].	
CHEBI:35223	catalyst	biolink:ChemicalSubstance	mondo			catalyseur|catalyst|Katalysator|catalizador	http://purl.obolibrary.org/obo/CHEBI_35223	A substance that increases the rate of a reaction without modifying the overall standard Gibbs energy change in the reaction.	
CL:0002078	meso-epithelial cell	biolink:Cell	mondo	FMA:69076		epithelial mesenchymal cell	http://purl.obolibrary.org/obo/CL_0002078	Epithelial cell derived from mesoderm or mesenchyme.	
CL:0002077	ecto-epithelial cell	biolink:Cell	mondo	FMA:69074			http://purl.obolibrary.org/obo/CL_0002077	An epithelial cell derived from ectoderm.	
CHEBI:35222	inhibitor	biolink:ChemicalSubstance	mondo			inhibitor|inhibiteur|inhibidor|inhibitors	http://purl.obolibrary.org/obo/CHEBI_35222	A substance that diminishes the rate of a chemical reaction.	
UBERON:0002434	pituitary stalk	biolink:AnatomicalEntity	mondo			pituitary infundibular stalk|InfS|infundibulum neurohypophyseos|infundibulum of posterior lobe of pituitary gland|infundibular stem|infundibulum (lobus posterior) (glandula pituitaria)|infundibulum|THP|infundibular stem of neurohypophysis|infundibulum of hypothalamus|hypophyseal infundibulum|tuberal part of hypophysis|infundibular stem|hypophyseal stalk|infundibulum of neurohypophysis|hypophysial stalk|neurohypophysis infundibulum|pars tuberalis (hypophysis)|infundibulum of posterior lobe of pituitary gland|infundibulum hypophysis|infundibular stalk|infundibulum of pituitary gland|tuberal part of the hypophysis	http://purl.obolibrary.org/obo/UBERON_0002434	the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland	
MONDO:0005809	infectious ectromelia	biolink:Disease	mondo	MESH:D004482|EFO:0007325|UMLS:C0013591			http://purl.obolibrary.org/obo/MONDO_0005809	A viral infection of mice, causing edema and necrosis followed by limb loss.	MESH:D004482|UMLS:C0013591
MONDO:0005806	hypopharynx cancer	biolink:Disease	mondo	ICD10:C13|ICD9:148|DOID:8533|ICD10:C13.2|EFO:0007321|GARD:0009334|ICD9:148.9|ICD9:148.3|NCIT:C7190|SCTID:303012000|ICD10:C13.9|MESH:D007012		hypopharyngeal cancer|malignant tumor of the hypopharynx|malignant tumor of hypopharynx|hypopharynx pharynx cancer|malignant neoplasm of hypopharynx NOS|pharynx cancer of hypopharynx|malignant neoplasm of hypopharynx|malignant hypopharyngeal tumor|malignant hypopharyngeal neoplasm|malignant neoplasm of other specified sites of hypopharynx|hypural pharynx cancer|malignant neoplasm of posterior wall of hypopharynx|malignant neoplasm of posterior hypopharyngeal wall|malignant neoplasm of the hypopharynx|malignant tumour of hypopharynx|malignant neoplasm of hypopharynx, NOS|malignant neoplasm of other specified hypopharyngeal site|malignant tumor of posterior wall of hypopharynx|malignant neoplasm of ill-defined sites within the lip and oral cavity	http://purl.obolibrary.org/obo/MONDO_0005806	A primary or metastatic malignant neoplasm that affects the hypopharynx.	NCIT:C7190|SNOMEDCT:303012000|DOID:8533|MESH:D007012
MONDO:0005805	hypodermyiasis	biolink:Disease	mondo	UMLS:C0020607|EFO:0007320|Orphanet:430|MESH:D007000|DOID:12926		Oestridae infectious disease|Oestridae caused disease or disorder|Oestridae disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005805	Infestation with larvae of the genus Hypoderma, the warble fly.	DOID:12926|UMLS:C0020607|ORPHA:430|MESH:D007000
MONDO:0005808	inclusion conjunctivitis	biolink:Disease	mondo	COHD:372550|DOID:13800|GARD:0006777|EFO:0007324|NCIT:C116817|UMLS:C0009770|ICD10:A74.0|MESH:D003235|ICD9:077.98|ICD9:077.0|SCTID:231861005	gard_rare	adult inclusion conjunctivitis|Chlamydial conjunctivitis|Trachoma|inclusion blennorrhoea|neonatal Chlamydia conjunctivitis|Paratrachoma|inclusion blenorrhea	http://purl.obolibrary.org/obo/MONDO_0005808	Inflammation of the conjunctiva in a newborn due to Chlamydia trachomatis which was acquired during labor and delivery.	NCIT:C116817|DOID:13800|SNOMEDCT:231861005|MESH:D003235|UMLS:C0009770
CHEBI:35221	antimetabolite	biolink:ChemicalSubstance	mondo			antimetabolites|antimetabolite	http://purl.obolibrary.org/obo/CHEBI_35221	A substance which is structurally similar to a metabolite but which competes with it or replaces it, and so prevents or reduces its normal utilization.	
CL:0002076	endo-epithelial cell	biolink:Cell	mondo	FMA:69075			http://purl.obolibrary.org/obo/CL_0002076	An epithelial cell derived from endoderm.	
MONDO:0005807	idiopathic CD4-positive T-lymphocytopenia	biolink:Disease	mondo	NCIT:C84780|EFO:0007322|MESH:D018344|DOID:3109|UMLS:C0206744			http://purl.obolibrary.org/obo/MONDO_0005807	A rare immunodeficiency syndrome characterized by the decrease of the CD4-positive lymphocytes below 300 per cubic millimeter in the absence of identifiable immunodeficiency causes. Patients with this syndrome are at an increased risk of opportunistic infections.	DOID:3109|UMLS:C0206744|MESH:D018344|NCIT:C84780
HGNC:9312	PPP2R5D	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9312		
UBERON:0002419	skin gland	biolink:AnatomicalEntity	mondo			glandulae cutis|set of skin glands|skin glands set|skin glands	http://purl.obolibrary.org/obo/UBERON_0002419	A gland that is part of a skin of body [Automatically generated definition].	
UBERON:0002416	integumental system	biolink:AnatomicalEntity	mondo			body surface|organism surface|integumentary system|surface|external covering of organism|integumentum commune|dermal system	http://purl.obolibrary.org/obo/UBERON_0002416	Connected anatomical system that forms a barrier between an animal and its environment. In vertebrates, the integumental system consists of the epidermis, dermis plus associated glands and adnexa such as hair and scales. In invertebrates, the integumental system may include cuticle.	
UBERON:0002415	tail	biolink:AnatomicalEntity	mondo			caudal subdivision	http://purl.obolibrary.org/obo/UBERON_0002415	An external caudal extension of the body. In chordates, the tail is post-anal, in other animals the anus ends in the tail	
UBERON:0002418	cartilage tissue	biolink:AnatomicalEntity	mondo			cartilage tissue|chondrogenic tissue|cartilage|cartilaginous tissue|portion of cartilage tissue|cartilages	http://purl.obolibrary.org/obo/UBERON_0002418	Skeletal tissue that is avascular, rich in glycosaminoglycans (GAGs) and typically includes chondrocytes within isolated lacunae. Cartilage tissue is deposited by chondroblasts.	
UBERON:0002417	abdominal segment of trunk	biolink:AnatomicalEntity	mondo			lower body|abdomen/pelvis/perineum|lumbar region|lower trunk	http://purl.obolibrary.org/obo/UBERON_0002417	The abdominal segment of the torso.	
UBERON:0014401	renal venous blood vessel	biolink:AnatomicalEntity	mondo			kidney venous blood vessel|kidney venous system|venous blood vessel of kidney	http://purl.obolibrary.org/obo/UBERON_0014401	Any member of the network of tubes that return blood from the renal tissues to the systemic circulation.	
HGNC:27089	CARMIL2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/27089		
UBERON:0014400	hepatic sinusoidal space	biolink:AnatomicalEntity	mondo			lumen of hepatic sinusoid	http://purl.obolibrary.org/obo/UBERON_0014400	A sinusoidal space that is part of a hepatic sinusoid.	
CL:0002045	Fraction A pre-pro B cell	biolink:Cell	mondo			pre pro B cell|fraction A	http://purl.obolibrary.org/obo/CL_0002045	A pro-B cell that CD45R/B220-positive, CD43-positive, HSA-low, BP-1-negative and Ly6c-negative. This cell type is also described as being lin-negative, AA4-positive, Kit-positive, IL7Ra-positive and CD45R-positive.	
CL:0002044	Kit-positive, integrin beta7-high basophil mast progenitor cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002044	A basophil mast progenitor cell that is Beta-7 integrin-high, Kit-positive FcRgammaII/III-positive and Sca1-negative.	
CL:0002047	Fraction B precursor B cell	biolink:Cell	mondo			Fr. B|Fraction B	http://purl.obolibrary.org/obo/CL_0002047	A precursor B cell that is CD45RA-positive, CD43-positive, CD24-positive and BP-1-negative.	
CL:0002049	Fraction C precursor B cell	biolink:Cell	mondo			Fraction C	http://purl.obolibrary.org/obo/CL_0002049	A precursor B cell is CD45R-positive, CD43-positive, CD24-positive, and BP-positive. Intracellularly expression of surrogate light chain, Rag1 and Rag2, TdT, occurs while there is no expression of mu heavy chain.	
UBERON:0002423	hepatobiliary system	biolink:AnatomicalEntity	mondo			hepaticobiliary system|liver/biliary system|liver and biliary system	http://purl.obolibrary.org/obo/UBERON_0002423	The part of the digestive system that contains the liver and the biliary system	
UBERON:0002422	fourth ventricle	biolink:AnatomicalEntity	mondo			ventriculus quartus|4th ventricle|rhombencephalic vesicle|ventricle of hindbrain|fourth ventricle proper|rhombencephalic ventricle|ventricle IV|ventricle of rhombencephalon|IVth ventricle|hindbrain ventricle	http://purl.obolibrary.org/obo/UBERON_0002422	Part of the ventricular system of the brain, forming a single large irregularly shaped cavity located on the midline of the rhombencephalon, between the medulla, pons and the isthmus ventrally and the cerebellum dorsally. It is continuous with the cerebral aqueduct anteriorally and the central canal of the spinal cord posteriorly. It communicates with the subarachnoid space through its lateral and median apertures.	
UBERON:0002425	visceral serous pericardium	biolink:AnatomicalEntity	mondo			lamina visceralis pericardii serosi|visceral layer of serous pericardium|visceral lamina of serous pericardium|serous visceral pericardium|pericardium visceral mesothelium|visceral pericardium|epicardium	http://purl.obolibrary.org/obo/UBERON_0002425	Visceral serous membrane which is continuous with the parietal serous pericardium and is attached to the myocardium[FMA].	
UBERON:0002424	oral epithelium	biolink:AnatomicalEntity	mondo			epithelium of oral mucosa|epithelium of mucosa of mouth	http://purl.obolibrary.org/obo/UBERON_0002424	An epithelium that is part of the mouth and lines the oral cavity, typically stratified squamous, and may be para-, ortho- or non- keratinized. Primary barrier between oral environment and deeper tissues	
HGNC:9325	PPT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9325		
UBERON:0002421	hippocampal formation	biolink:AnatomicalEntity	mondo			seahorse|formatio hippocampi|archipallium|hippocampus|major hippocampus|primal cortex|hippocampus (Crosby)	http://purl.obolibrary.org/obo/UBERON_0002421	Hippocampus (proper) plus dentate gyrus and subiculum[definition derived from NIF comments and ontology alignment].	
CL:0002043	CD34-positive, CD38-negative multipotent progenitor cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002043	A hematopoietic multipotent progenitor cell that is CD34-positive, CD38-negative, CD45RA-negative, and CD90-negative.	
UBERON:0002409	pericardial fluid	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0002409	Transudate contained in the pericardial cavity.[FMA]	
UBERON:0002408	parietal serous pericardium	biolink:AnatomicalEntity	mondo			parietal layer of serous pericardium|pericardial sac|parietal pericardium|lamina parietalis pericardii|lamina parietalis (pericardii serosum)	http://purl.obolibrary.org/obo/UBERON_0002408	Parietal serous membrane which is part of the pericardium and forms the outer layer of the pericardial sac.	
UBERON:0002405	immune system	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0002405	Anatomical system that protects the body from foreign substances, cells, and tissues by producing the immune response and that includes especially the thymus, spleen, lymphoid tissue, lymphocytes including the B cells and T cells, and antibodies.	
UBERON:0002407	pericardium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0002407	The combination of pericardial sac (a double-walled sac containing the heart and the roots of the great vessels) plus fibrous pericardium.	
UBERON:0002406	pericardial sac	biolink:AnatomicalEntity	mondo			pericardium	http://purl.obolibrary.org/obo/UBERON_0002406	a double-walled sac containing the heart and the roots of the great vessels.	
GO:0046434	organophosphate catabolic process	biolink:OntologyClass	mondo			organophosphate catabolism|organophosphate degradation|organophosphate breakdown	http://purl.obolibrary.org/obo/GO_0046434	The chemical reactions and pathways resulting in the breakdown of organophosphates, any phosphate-containing organic compound.	
NCBITaxon:71583	Balantidiidae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_71583		
CL:0002056	Fraction F mature B cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002056	A mature B cell subset originally defined as having being CD45R-positive, IgM-positive, IgD-positive and CD43-negative. Subsequent research demonstrated being CD21-positive and CD23-negative and CD93 negative.	
NCBITaxon:71585	Balantioides coli	organism taxon	mondo	PMID:23556024|PMID:25185665|GC_ID:1		Balantidium coli|Neobalantidium coli|Paramecium coli	http://purl.obolibrary.org/obo/NCBITaxon_71585		
NCBITaxon:71584	Balantidium	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_71584		
HP:0031137	Storage in hepatocytes	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0031137	Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material.	
CL:0002059	CD8alpha-positive thymic conventional dendritic cell	biolink:Cell	mondo			CD8alpha-alpha-positive thymic conventional dendritic cell|DC.8+.Th	http://purl.obolibrary.org/obo/CL_0002059	A conventional thymic dendritic cell that is CD8alpha-positive.	
UBERON:0002412	vertebra	biolink:AnatomicalEntity	mondo			vertebrae|vertebra bone	http://purl.obolibrary.org/obo/UBERON_0002412	The ossified form of a vertebral element, a skeletal element that forms around the notochord and is part of the vertebral column.	
UBERON:0002411	clitoris	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0002411	the small, erectile body located at the anterior end of the vulva	
UBERON:0002414	lumbar vertebra	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0002414	Large vertebra of the movable part of the vertebral column, characterized by the absence of the foramen transversarium within the transverse process, and by the absence of facets on the sides of the body.	
CL:0002050	Fraction C' precursor B cell	biolink:Cell	mondo			Fraction C-prime|Fr. C'	http://purl.obolibrary.org/obo/CL_0002050	A pre-BCR-positive precursor B cell that is CD24-high, CD25-positive, CD43-positive, CD45R-positive and BP-positive.	
UBERON:0002413	cervical vertebra	biolink:AnatomicalEntity	mondo			vertebrae cervicales|cervical vertebrae	http://purl.obolibrary.org/obo/UBERON_0002413	A vertebra that is located in the cervical region of the vertebral column.	
HGNC:9330	PQBP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9330		
CL:0002052	Fraction D precursor B cell	biolink:Cell	mondo			Fr. D|Fraction D pre-B cell	http://purl.obolibrary.org/obo/CL_0002052	A pre-B cell that is pre-BCR-negative, and the kappa- and lambda- light immunoglobulin light chain-negative, CD43-low, and is BP-1-positive, CD45R-positive and CD25-positive. This cell type is also described as being AA4-positive, IgM-negative, CD19-positive, CD43-low/negative, and HSA-positive.	
UBERON:0002410	autonomic nervous system	biolink:AnatomicalEntity	mondo			peripheral autonomic nervous system|divisio autonomica systematis nervosi peripherici|visceral nervous system|autonomic division of peripheral nervous system|ANS|autonomic part of peripheral nervous system|pars autonomica systematis nervosi peripherici|divisio autonomica systematis nervosi peripherici	http://purl.obolibrary.org/obo/UBERON_0002410	The autonomic nervous system is composed of neurons that are not under conscious control, and is comprised of two antagonistic components, the sympathetic and parasympathetic nervous systems. The autonomic nervous system regulates key functions including the activity of the cardiac (heart) muscle, smooth muscles (e.g. of the gut), and glands[GO].	
CL:0002054	Fraction E immature B cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002054	An immature B cell that is IgM-positive, CD45R-positive, CD43-low, CD25-negative, and CD127-negative. This cell type has also been described as being AA4-positive, IgM-positive, CD19-positive, CD43-low/negative, and HSA-positive.	
PATO:0000647	necrotic	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0000647	A structural quality inhering in a bearer by virtue of the bearer's undergoing unprogrammed cell death.	
CHEBI:62803	fuel additive	biolink:ChemicalSubstance	mondo			fuel enhancer|fuel additives	http://purl.obolibrary.org/obo/CHEBI_62803	Any additive that enhances the efficiency of fuel.	
ECTO:0000590	vasodilator agent exposure	biolink:OntologyClass	mondo			exposure to vasodilator agent	http://purl.obolibrary.org/obo/ECTO_0000590	An exposure to vasodilator agent.	
HGNC:40038	PET100	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/40038		
GO:0034440	lipid oxidation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0034440	The removal of one or more electrons from a lipid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen.	
MONDO:0015193	hydrops fetalis (disease)	biolink:Disease	mondo	Orphanet:1041|ICD10:P56.0|SCTID:276508000|GARD:0002783|MedDRA:10020529|ICD10:P83.2|HP:0001789|GARD:0002301|ICD10:P56.9|NCIT:C84767|UMLS:C0020305	gard_rare|ordo_malformation_syndrome	hydrops fetalis nonimmune|idiopathic hydrops fetalis|HF|hydrops fetalis|fetal hydrops|generalized fetal edema|fetal edema|fetal anasarca|familial non-immune hydrops fetalis	http://purl.obolibrary.org/obo/MONDO_0015193	Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility).	NCIT:C84767|UMLS:C0020305|MESH:D015160|ORPHA:1041|SNOMEDCT:276508000|MEDDRA:10020529
MONDO:0015192	unclassified intestinal pseudoobstruction	biolink:Disease	mondo	Orphanet:104078|UMLS:CN197532|ICD10:K59.8	ordo_etiological_subtype		http://purl.obolibrary.org/obo/MONDO_0015192		UMLS:CN197532|ORPHA:104078
MONDO:0015191	myopathic intestinal pseudoobstruction	biolink:Disease	mondo	Orphanet:104077|ICD10:K59.8	ordo_etiological_subtype		http://purl.obolibrary.org/obo/MONDO_0015191		ORPHA:104077
MONDO:0015190	obsolete leiomyosarcoma of small intestine	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015190		
GO:0010468	regulation of gene expression	biolink:OntologyClass	mondo			regulation of protein expression|regulation of gene product expression	http://purl.obolibrary.org/obo/GO_0010468	Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form.	
GO:0010469	regulation of signaling receptor activity	biolink:OntologyClass	mondo			regulation of receptor activity|regulation of signalling receptor activity	http://purl.obolibrary.org/obo/GO_0010469	Any process that modulates the frequency, rate or extent of a signaling receptor activity. Receptor activity is when a molecule combines with an extracellular or intracellular messenger to initiate a change in cell activity.	
HP:0008734	Decreased testicular size	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:276411001|UMLS:C0241355		Decreased testicular size|Testicular hypoplasia|Small testes|Hypoplastic testes|Small testis	http://purl.obolibrary.org/obo/HP_0008734	Reduced volume of the testicle (the male gonad).	
GO:0010466	negative regulation of peptidase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010466	Any process that stops or reduces the rate of peptidase activity, the hydrolysis of peptide bonds within proteins.	
GO:0010467	gene expression	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010467	The process in which a gene's sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form.	
MONDO:0015197	aneurysm of sinus of Valsalva	biolink:Disease	mondo	Orphanet:1054|GARD:0000670|SCTID:54160000|ICD10:Q25.4|UMLS:CN197542|ICD9:747.29	gard_rare|ordo_morphological_anomaly	SVA|sinus of Valsalva aneurysm	http://purl.obolibrary.org/obo/MONDO_0015197	Sinus of Valsalva aneurysm (SVA) is a rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated.	UMLS:CN197542|SNOMEDCT:54160000|ORPHA:1054
MONDO:0015196	vein of Galen aneurysm	biolink:Disease	mondo	GARD:0005467|SCTID:253194008|Orphanet:1053|ICD10:Q28.2|UMLS:C0431420|MESH:C536535	gard_rare|ordo_morphological_anomaly	Galenic arteriovenous malformation|ectasia or varix of the vein of Galen|vein of Galen aneurysm malformation|VGAM|Galen vein aneurysm|vein of Galen arteriovenous malformations	http://purl.obolibrary.org/obo/MONDO_0015196	Vein of Galen aneurysm is a rare formof arteriovenous malformation in which the embryonic precursor to the vein of Galen, a vein at the base of the brain, dilates causing too much blood to rush to the heart. This can lead to rapid heart failure. Other features may include increased head circumference resulting from hydrocephalus, unusually prominent veins on the face and scalp, developmental delay, persistent headache, and other neurological findings. Vein of Galen aneurysm is often recognized on an ultrasound late in pregnancy. In other cases, it is diagnosed after birth. Although the exact cause remains unknown, this condition appears to result from a defect in early fetal development. Treatment is aimed at decreasing the blood flow through the malformation while maximizing the blood supply to the brain. Minimally invasive surgical techniques are preferred, such as endovascular embolization.	UMLS:C0431420|ORPHA:1053|SNOMEDCT:253194008|MESH:C536535
MONDO:0015195	atresia of urethra (disease)	biolink:Disease	mondo	HP:0000068|MedDRA:10064895|SCTID:253902002|ICD10:Q64.3|Orphanet:105	ordo_morphological_anomaly	atresia of urethra|urethral atresia	http://purl.obolibrary.org/obo/MONDO_0015195	Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development.	UMLS:C1610065|SNOMEDCT:253902002|UMLS:C0345345|ORPHA:105|MEDDRA:10064895
MONDO:0015194	sideroblastic anemia	biolink:Disease	mondo	ICD10:D64.2|ICD10:D64.1|ICD10:D64.0|MedDRA:10040661|ICD9:285.0|OMIMPS:300751|SCTID:41841004|COHD:432282|GARD:0000667|NCIT:C36078|UMLS:C0002896|MESH:D000756|DOID:8955|Orphanet:1047|ICD10:D64.3	ordo_group_of_disorders	anemia, sideroblastic|anemia, hypochromic with iron loading|anemia sideroblastic|sideroblastic anemia	http://purl.obolibrary.org/obo/MONDO_0015194	Sideroblastic anemias (SA) are a group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias. The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias.	SNOMEDCT:41841004|NCIT:C36078|DOID:8955|ORPHA:1047|UMLS:C0002896|MEDDRA:10040661|MESH:D000756
MONDO:0015199	aniridia - intellectual disability syndrome	biolink:Disease	mondo	Orphanet:1068|GARD:0005530|MESH:C536568|UMLS:C2931243	ordo_malformation_syndrome	Walker Dyson syndrome|Walker-Dyson syndrome|aniridia associated with mental retardation and other eye abnormalities|aniridia associated with intellectual disability and other eye abnormalities	http://purl.obolibrary.org/obo/MONDO_0015199	Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974.	UMLS:C2931243|ORPHA:1068|MESH:C536568
MONDO:0015198	aniridia-ptosis-intellectual disability-familial obesity syndrome	biolink:Disease	mondo	SCTID:720987001|Orphanet:1067|GARD:0000689|UMLS:CN226622	ordo_malformation_syndrome	aniridia - ptosis - intellectual disability - familial obesity	http://purl.obolibrary.org/obo/MONDO_0015198	Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986.	SNOMEDCT:720987001|ORPHA:1067|UMLS:CN226622
MONDO:0015182	congenital enteropathy involving intestinal mucosa development	biolink:Disease	mondo	Orphanet:104007	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015182		ORPHA:104007
MONDO:0015181	congenital intestinal disease due to an enzymatic defect	biolink:Disease	mondo	Orphanet:104006	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015181		ORPHA:104006
MONDO:0015180	intestinal disease due to fat malabsorption	biolink:Disease	mondo	UMLS:CN197522|Orphanet:104005	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015180		UMLS:CN197522|ORPHA:104005
CHEBI:74818	heteroaryl hydroxy compound	biolink:ChemicalSubstance	mondo			hetaryl hydroxy compounds|heteroaromatic hydroxy compound|heteroaromatic hydroxy compounds|hetaryl hydroxy compound|heteroaryl hydroxy compounds	http://purl.obolibrary.org/obo/CHEBI_74818	Any organic aromatic compound having one or more hydroxy groups attached to a heteroarene ring.	
MONDO:0015186	obsolete rare tumor of intestine	biolink:Disease	mondo	Orphanet:104011	ordo_group_of_disorders|obsoletion_candidate	rare tumor of bowel|rare intestinal neoplasm|rare intestinal tumor	http://purl.obolibrary.org/obo/MONDO_0015186	Rare intestinal neoplasm.	ORPHA:104011
MONDO:0015185	intestinal polyposis syndrome	biolink:Disease	mondo	NCIT:C155954|UMLS:CN197525|MedDRA:10057018|Orphanet:104010|UMLS:C0345891|SCTID:254589009	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015185		MEDDRA:10057018|NCIT:C155954|UMLS:CN197525|UMLS:C1257915|SNOMEDCT:254589009|UMLS:C0345891|ORPHA:104010
MONDO:0015184	obsolete rare disease involving intestinal motility	biolink:Disease	mondo	UMLS:CN226620|Orphanet:104009	obsoletion_candidate|ordo_group_of_disorders	rare genetic intestinal motility disease	http://purl.obolibrary.org/obo/MONDO_0015184		UMLS:CN226620|ORPHA:104009
HGNC:30696	WDR36	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30696		
MONDO:0015183	short bowel syndrome	biolink:Disease	mondo	NCIT:C99059|ICD9:579.3|MedDRA:10049416|SCTID:26629001|UMLS:C0036992|DOID:10605|MESH:D012778|GARD:0001502|Orphanet:104008	gard_rare|ordo_group_of_disorders	short gut syndrome|acquired short bowel syndrome	http://purl.obolibrary.org/obo/MONDO_0015183	Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.	UMLS:C0036992|DOID:10605|MEDDRA:10049416|SNOMEDCT:26629001|ORPHA:104008|NCIT:C99059|MESH:D012778
MONDO:0015189	obsolete adenocarcinoma of small instestine	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015189	An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma.	
MONDO:0015188	metabolic disease with intestinal involvement	biolink:Disease	mondo	UMLS:CN197528|Orphanet:104013	ordo_group_of_disorders	intestine metabolic disease|metabolic disease of intestine	http://purl.obolibrary.org/obo/MONDO_0015188	A metabolic disease that involves the intestine.	UMLS:CN197528|ORPHA:104013
MONDO:0015187	obsolete rare inflammatory bowel disease	biolink:Disease	mondo	Orphanet:104012	ordo_group_of_disorders|obsoletion_candidate	rare inflammatory bowel disease	http://purl.obolibrary.org/obo/MONDO_0015187	Rare inflammatory bowel disease.	ORPHA:104012
HGNC:29683	SLC25A32	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29683		
HGNC:29685	IARS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29685		
MONDO:0054782	leukodystrophy, hypomyelinating, 15	biolink:Disease	mondo	UMLS:CN244566|OMIM:617951		leukodystrophy, hypomyelinating, 15; HLD15|HLD15	http://purl.obolibrary.org/obo/MONDO_0054782		UMLS:CN244566|http://identifiers.org/omim/617951
MONDO:0054781	combined oxidative phosphorylation deficiency 36	biolink:Disease	mondo	UMLS:CN244569|DOID:0111482|OMIM:617950		COXPD36|combined oxidative phosphorylation deficiency 36; COXPD36	http://purl.obolibrary.org/obo/MONDO_0054781		UMLS:CN244569|DOID:0111482|http://identifiers.org/omim/617950
CHEBI:35294	carbopolycyclic compound	biolink:ChemicalSubstance	mondo			carbopolycyclic compounds	http://purl.obolibrary.org/obo/CHEBI_35294	A polyclic compound in which all of the ring members are carbon atoms.	
CHEBI:35293	fused compound	biolink:ChemicalSubstance	mondo			fused polycyclic compounds|fused-ring polycyclic compounds|fused-ring polycyclic compound|polycyclic fused-ring compounds|fused compounds	http://purl.obolibrary.org/obo/CHEBI_35293		
MONDO:0054780	elliptocytosis 3	biolink:Disease	mondo	OMIM:617948|MESH:C566678		elliptocytosis 3; EL3|anemia, perinatal hemolytic, fatal or near-fatal|EL3	http://purl.obolibrary.org/obo/MONDO_0054780		MESH:C566678|http://identifiers.org/omim/617948
CHEBI:35296	ortho-fused polycyclic arene	biolink:ChemicalSubstance	mondo			ortho-fused polycyclic arenes	http://purl.obolibrary.org/obo/CHEBI_35296		
CHEBI:35295	homopolycyclic compound	biolink:ChemicalSubstance	mondo			homopolycyclic compounds	http://purl.obolibrary.org/obo/CHEBI_35295		
MONDO:0054785	multiple mitochondrial dysfunctions syndrome 6	biolink:Disease	mondo	UMLS:CN244567|DOID:0070332|OMIM:617954		multiple MITOCHONDRIAL dysfunctions syndrome 6; MMDS6|MMDS6	http://purl.obolibrary.org/obo/MONDO_0054785		http://identifiers.org/omim/617954|DOID:0070332|UMLS:CN244567
CHEBI:35297	acene	biolink:ChemicalSubstance	mondo			Acen|polyacenes|Azen|acene|acenes	http://purl.obolibrary.org/obo/CHEBI_35297	A polycyclic aromatic hydrocarbon consisting of fused benzene rings in a rectilinear arrangement.	
ECTO:0000557	inhibitor exposure	biolink:OntologyClass	mondo			exposure to inhibitor	http://purl.obolibrary.org/obo/ECTO_0000557	An exposure to inhibitor.	
HGNC:30668	SRPX2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30668		
NCBITaxon:10624		organism taxon	mondo				http://purl.obolibrary.org/obo/NCBITaxon_10624		
GO:0034404	nucleobase-containing small molecule biosynthetic process	biolink:OntologyClass	mondo			nucleobase, nucleoside and nucleotide biosynthesis|nucleobase, nucleoside and nucleotide anabolism|nucleobase, nucleoside and nucleotide synthesis|nucleobase, nucleoside and nucleotide formation	http://purl.obolibrary.org/obo/GO_0034404	The chemical reactions and pathways resulting in the formation of a nucleobase-containing small molecule: a nucleobase, a nucleoside, or a nucleotide.	
NCBITaxon:10629		organism taxon	mondo				http://purl.obolibrary.org/obo/NCBITaxon_10629		
GO:0010455	positive regulation of cell fate commitment	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010455	Any process that activates, maintains or increases the frequency or rate of cell fate commitment. Cell fate commitment is the commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field.	
HGNC:27030	DNAJC21	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/27030		
GO:0010453	regulation of cell fate commitment	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010453	Any process that modulates the frequency, rate or extent of cell fate commitment. Cell fate commitment is the commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field.	
GO:0010454	negative regulation of cell fate commitment	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010454	Any process that stops, prevents or reduces the frequency or rate of cell fate commitment. Cell fate commitment is the commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field.	
MONDO:0054771	keratoconus 9	biolink:Disease	mondo	UMLS:CN244547|OMIM:617928		KTCN9|keratoconus 9; KTCN9	http://purl.obolibrary.org/obo/MONDO_0054771		http://identifiers.org/omim/617928|UMLS:CN244547
MONDO:0054770	orofaciodigital syndrome 18	biolink:Disease	mondo	UMLS:CN244546|OMIM:617927		Ofds 18|OFD18|oral-Facial-digital syndrome, type 18|orofaciodigital syndrome XVIII; OFD18	http://purl.obolibrary.org/obo/MONDO_0054770		http://identifiers.org/omim/617927|UMLS:CN244546
MONDO:0054776	epilepsy, familial focal, with variable foci 4	biolink:Disease	mondo	OMIM:617935|UMLS:CN244552		FFEVF4|epilepsy, FAMILIAL focal, with variable foci 4; FFEVF4	http://purl.obolibrary.org/obo/MONDO_0054776		http://identifiers.org/omim/617935|UMLS:CN244552
ECTO:0000524	mycotoxin exposure	biolink:OntologyClass	mondo			exposure to mycotoxin	http://purl.obolibrary.org/obo/ECTO_0000524	An exposure to mycotoxin.	
PATO:0000627	localized	biolink:OntologyClass	mondo			focal|localised	http://purl.obolibrary.org/obo/PATO_0000627	A spatial pattern quality inhering in a bearer by virtue of the bearer's being confined or restricted to a particular location.	
ECTO:0000523	mutagen exposure	biolink:OntologyClass	mondo			exposure to mutagen	http://purl.obolibrary.org/obo/ECTO_0000523	An exposure to mutagen.	
ECTO:0000526	neurotransmitter exposure	biolink:OntologyClass	mondo			exposure to neurotransmitter	http://purl.obolibrary.org/obo/ECTO_0000526	An exposure to neurotransmitter.	
GO:0022411	cellular component disassembly	biolink:OntologyClass	mondo			cellular component disassembly at cellular level|cell structure disassembly	http://purl.obolibrary.org/obo/GO_0022411	A cellular process that results in the breakdown of a cellular component.	
HGNC:29669	IFT43	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29669		
GO:0022410	circadian sleep/wake cycle process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0022410	A behavioral process involved in the cycle from wakefulness through an orderly succession of sleep states and stages that occurs on an approximately 24 hour rhythm.	
GO:0022412	cellular process involved in reproduction in multicellular organism	biolink:OntologyClass	mondo			reproductive cellular process in multicellular organism	http://purl.obolibrary.org/obo/GO_0022412	A process, occurring at the cellular level, that is involved in the reproductive function of a multicellular organism.	
HGNC:29666	MTFMT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29666		
GO:0022414	reproductive process	biolink:OntologyClass	mondo			single organism reproductive process	http://purl.obolibrary.org/obo/GO_0022414	A biological process that directly contributes to the process of producing new individuals by one or two organisms. The new individuals inherit some proportion of their genetic material from the parent or parents.	
HP:0008776	Abnormal renal artery morphology	biolink:PhenotypicFeature	mondo	UMLS:C4024624		Abnormality of the renal artery|Abnormal kidney artery	http://purl.obolibrary.org/obo/HP_0008776	Any structural abnormality of the renal artery.	
HGNC:30664	CLPB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30664		
CHEBI:35274	ammonium ion derivative	biolink:ChemicalSubstance	mondo			ammonium ion derivatives|azanium ion derivative|azanium ion derivatives	http://purl.obolibrary.org/obo/CHEBI_35274	A derivative of ammonium, NH4(+), in which one (or more) of the hydrogens bonded to the nitrogen have been replaced with univalent organyl groups. The substituting carbon of the organyl group must not itself be directly attached to a heteroatom (thereby excluding protonated amides, hemiaminals, etc).	
ECTO:0000530	pesticide exposure	biolink:OntologyClass	mondo			exposure to pesticide	http://purl.obolibrary.org/obo/ECTO_0000530	An exposure to pesticide.	
ECTO:0000537	toxin exposure	biolink:OntologyClass	mondo			exposure to toxin	http://purl.obolibrary.org/obo/ECTO_0000537	An exposure to toxin.	
GO:0022402	cell cycle process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0022402	The cellular process that ensures successive accurate and complete genome replication and chromosome segregation.	
HGNC:29679	PAM16	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29679		
HGNC:29673	MFAP5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29673		
GO:0009450	gamma-aminobutyric acid catabolic process	biolink:OntologyClass	mondo			gamma-aminobutyric acid degradation|GABA catabolism|GABA catabolic process|4-aminobutanoate catabolism|4-aminobutyrate catabolism|gamma-aminobutyric acid breakdown|gamma-aminobutyric acid catabolism|4-aminobutyrate catabolic process|4-aminobutanoate catabolic process	http://purl.obolibrary.org/obo/GO_0009450	The chemical reactions and pathways resulting in the breakdown of gamma-aminobutyric acid (GABA, 4-aminobutyrate), an amino acid which acts as a neurotransmitter in some organisms.	
HGNC:29670	GNPTAB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29670		
GO:0009448	gamma-aminobutyric acid metabolic process	biolink:OntologyClass	mondo			4-aminobutanoate metabolism|GABA metabolic process|4-aminobutyrate metabolism|gamma-aminobutyric acid metabolism|4-aminobutyrate metabolic process|GABA metabolism|4-aminobutanoate metabolic process	http://purl.obolibrary.org/obo/GO_0009448	The chemical reactions and pathways involving gamma-aminobutyric acid (GABA, 4-aminobutyrate), an amino acid which acts as a neurotransmitter in some organisms.	
MONDO:0054794	hydrocephalus, congenital, 3, with brain anomalies	biolink:Disease	mondo	OMIM:617967		hydrocephalus, CONGENITAL, 3, with brain anomalies; HYC3|hydrocephalus, nonsyndromic, autosomal recessive 3, formerly|hydrocephalus, nonsyndromic, autosomal recessive 3|HYC3	http://purl.obolibrary.org/obo/MONDO_0054794		http://identifiers.org/omim/617967
GO:0022404	molting cycle process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0022404	A multicellular organismal process involved in the periodic casting off and regeneration of an outer covering of cuticle, feathers, hair, horns, skin.	
HGNC:17697	SARS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17697		
GO:0022406	membrane docking	biolink:OntologyClass	mondo			membrane docking	http://purl.obolibrary.org/obo/GO_0022406	The initial attachment of a membrane or protein to a target membrane. Docking requires only that the proteins come close enough to interact and adhere.	
GO:0022405	hair cycle process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0022405	A multicellular organismal process involved in the cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair; one of the collection or mass of filaments growing from the skin of an animal, and forming a covering for a part of the head or for any part or the whole of the body.	
MONDO:0054791	leukodystrophy, hypomyelinating, 16	biolink:Disease	mondo	UMLS:CN244907|OMIM:617964		HLD16|leukodystrophy, hypomyelinating, 16; HLD16	http://purl.obolibrary.org/obo/MONDO_0054791		UMLS:CN244907|http://identifiers.org/omim/617964
GO:0022408	negative regulation of cell-cell adhesion	biolink:OntologyClass	mondo			down regulation of cell-cell adhesion|inhibition of cell-cell adhesion|down-regulation of cell-cell adhesion|downregulation of cell-cell adhesion	http://purl.obolibrary.org/obo/GO_0022408	Any process that stops, prevents or reduces the rate or extent of cell adhesion to another cell.	
HGNC:30650	STRA6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30650		
GO:0022407	regulation of cell-cell adhesion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0022407	Any process that modulates the frequency, rate or extent of attachment of a cell to another cell.	
ECTO:0000544	antimicrobial agent exposure	biolink:OntologyClass	mondo			exposure to antimicrobial agent	http://purl.obolibrary.org/obo/ECTO_0000544	An exposure to antimicrobial agent.	
GO:0022409	positive regulation of cell-cell adhesion	biolink:OntologyClass	mondo			activation of cell-cell adhesion|upregulation of cell-cell adhesion|up regulation of cell-cell adhesion|stimulation of cell-cell adhesion|up-regulation of cell-cell adhesion	http://purl.obolibrary.org/obo/GO_0022409	Any process that activates or increases the rate or extent of cell adhesion to another cell.	
ECTO:0000543	molecular messenger exposure	biolink:OntologyClass	mondo			exposure to molecular messenger	http://purl.obolibrary.org/obo/ECTO_0000543	An exposure to molecular messenger.	
MONDO:0003267	obsolete myxopapillary ependymoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003267		
MONDO:0003268	mixed glioma	biolink:Disease	mondo	SCTID:443937008|NCIT:C3903|DOID:5076|UMLS:C0259783|ICDO:9382/3		mixed glial tumor|glioma, mixed|mixed glioma|glioma, mixed, malignant|mixed gliomas|mixed neuroglial tumor|mixed neuroglial neoplasm|mixed glial neoplasm|mixed glioma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003268	A tumor composed of two or more glial cell types (astrocytes, ependymal cells, and oligodendrocytes).	NCIT:C3903|SNOMEDCT:443937008|DOID:5076|UMLS:C0259783
MONDO:0003269	obsolete subependymal giant cell astrocytoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003269		
NCBITaxon:46607		organism taxon	mondo				http://purl.obolibrary.org/obo/NCBITaxon_46607		
MONDO:0003263	childhood cerebellar neoplasm	biolink:Disease	mondo	NCIT:C5970|DOID:5059|UMLS:C1332959		pediatric cerebellar tumor|childhood neoplasm of cerebellum|childhood neoplasm of the cerebellum|pediatric tumor of the cerebellum|childhood cerebellar neoplasm|childhood cerebellar tumors|pediatric tumor of cerebellum|pediatric neoplasm of cerebellum|childhood cerebellar tumor|pediatric neoplasm of the cerebellum|childhood tumor of cerebellum|childhood tumor of the cerebellum|childhood cerebellar neoplasms|pediatric cerebellar neoplasm	http://purl.obolibrary.org/obo/MONDO_0003263	A neoplasm that affects the cerebellum and occurs during childhood.	NCIT:C5970|DOID:5059|UMLS:C1332959
MONDO:0003264	basosquamous carcinoma	biolink:Disease	mondo	DOID:5063|NCIT:C2922|MESH:D002281|ICDO:8094/3|UMLS:C0007118|EFO:1000529		basosquamous tumor, malignant|Basisquamous cell carcinoma|skin mixed basal and squamous cell carcinoma|basosquamous carcinoma|metatypical carcinoma (morphologic abnormality)|basosquamous cell carcinoma|metatypical carcinoma|skin basosquamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0003264	A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases.	MESH:D002281|DOID:5063|NCIT:C2922|UMLS:C0007118
MONDO:0003265	adjustment disorder	biolink:Disease	mondo	ICD9:309.89|SCTID:17226007|DOID:507|NCIT:C92191|MESH:D000275|COHD:436677|ICD9:309|ICD9:309.9		disorder, adjustment|adjustment reaction|disorders, reactive|disorder, reactive|adjustment disease|adaptation reaction|adjustment disorder|disorders, adjustment	http://purl.obolibrary.org/obo/MONDO_0003265	A category of psychiatric disorders which are characterized by emotional or behavioral symptoms that develop within 3 months of a stressor and do not persist for more than an additional 6 months after the stressor is no longer present.	SNOMEDCT:17226007|MESH:D000275|DOID:507|NCIT:C92191
MONDO:0003266	ependymal tumor	biolink:Disease	mondo	UMLS:C1333407|EFO:1000027|UMLS:CN203416|ICD10:C71.7|ONCOTREE:EPMT|NCIT:C6770|Orphanet:301	ordo_group_of_disorders	ependymal tumor|ependymomal tumor|ependymal neoplasm|ependymal tumors	http://purl.obolibrary.org/obo/MONDO_0003266	A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma. (WHO)	UMLS:CN203416|UMLS:C1333407|ORPHA:301|NCIT:C6770
MONDO:0003260	adult cerebellar neoplasm	biolink:Disease	mondo	NCIT:C5968|DOID:5056|UMLS:C1332197		adult cerebellar tumor|tumor of the adult cerebellum|adult cerebellar neoplasms|cerebellar neoplasm of adults|adult cerebellar neoplasm|tumor of adult cerebellum|neoplasm of adult cerebellum|adult cerebellar tumors|neoplasm of the adult cerebellum	http://purl.obolibrary.org/obo/MONDO_0003260	A cerebellar neoplasm that occurs in an adult.	DOID:5056|UMLS:C1332197|NCIT:C5968
MONDO:0003261	papillary meningioma of the cerebellum	biolink:Disease	mondo	UMLS:C1332902|NCIT:C5270|DOID:5057		papillary meningioma of the cerebellum|papillary meningioma of cerebellum|cerebellar papillary meningioma|cerebellum papillary meningioma	http://purl.obolibrary.org/obo/MONDO_0003261	A papillary meningioma that affects the cerebellum.	DOID:5057|UMLS:C1332902|NCIT:C5270
MONDO:0003262	rhabdoid meningioma	biolink:Disease	mondo	UMLS:C0259786|NCIT:C6909|ONCOTREE:RHM|DOID:5058		meningioma, rhabdoid|papillary meningioma|rhabdoid meningioma|papillary meningioma (morphologic abnormality)|meningioma, rhabdoid (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003262	A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets.	DOID:5058|UMLS:C0259786|NCIT:C6909
MONDO:0015259	brachydactyly-mesomelia-intellectual disability-heart defects syndrome	biolink:Disease	mondo	GARD:0005036|UMLS:CN199165|Orphanet:1277|ICD10:Q87.8	gard_rare|ordo_malformation_syndrome	Stratton-Garcia-Young syndrome|brachydactyly mesomelia mental retardation aortic dilatation mitral valve prolapse and characteristic face|brachydactyly mesomelia intellectual disability aortic dilatation mitral valve prolapse and characteristic face	http://purl.obolibrary.org/obo/MONDO_0015259	Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse).	ORPHA:1277|UMLS:CN199165
MONDO:0015258	obsolete botulism	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015258		
MONDO:0015257	sino-auricular heart block	biolink:Disease	mondo	Orphanet:1260|ICD10:I45.5|UMLS:CN199152	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015257		ORPHA:1260|UMLS:CN199152
MONDO:0015252	severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome	biolink:Disease	mondo	GARD:0003482|Orphanet:1236|UMLS:CN237422	gard_rare|ordo_malformation_syndrome	intellectual disability - athetosis - microphthalmia|severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome|BD syndrome|intellectual disability-athetosis-microphthalmia syndrome	http://purl.obolibrary.org/obo/MONDO_0015252		ORPHA:1236|UMLS:CN237422
MONDO:0054860	deafness, autosomal recessive 110	biolink:Disease	mondo	OMIM:618094|DOID:0111644		deafness, autosomal recessive 110; DFNB110|DFNB110	http://purl.obolibrary.org/obo/MONDO_0054860		http://identifiers.org/omim/618094|DOID:0111644
HGNC:30764	TRAIP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30764		
MONDO:0015251	obsolete balantidiasis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015251		
NCBITaxon:34625	Hyalomma	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_34625		
HGNC:30765	TNIK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30765		
MONDO:0015250	spinal atrophy-ophthalmoplegia-pyramidal syndrome	biolink:Disease	mondo	Orphanet:1217|MESH:C535625|GARD:0004942|UMLS:C2930956|ICD10:G12.2	gard_rare|ordo_disease	spinal atrophy ophthalmoplegia pyramidal syndrome|Hamano Tsukamoto syndrome|Hamano-Tsukamoto syndrome|infantile progressive spinal muscular atrophy with ophthalmoplegia and pyramidal symptoms	http://purl.obolibrary.org/obo/MONDO_0015250	Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994.	UMLS:C2930956|ORPHA:1217|MESH:C535625
NCBITaxon:34622	Haemaphysalis	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_34622		
MONDO:0015256	blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome	biolink:Disease	mondo	Orphanet:1258	ordo_malformation_syndrome	Rodini-Richieri Costa syndrome	http://purl.obolibrary.org/obo/MONDO_0015256		ORPHA:1258
NCBITaxon:34620	Dermacentor andersoni	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_34620		
HGNC:30760	TMEM165	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30760		
NCBITaxon:34621	Dermacentor variabilis	organism taxon	mondo	GC_ID:1		American dog tick	http://purl.obolibrary.org/obo/NCBITaxon_34621		
MONDO:0015255	blepharophimosis-radioulnar synostosis syndrome	biolink:Disease	mondo	ICD10:Q87.2|UMLS:C2931162|MESH:C536292|Orphanet:1256|GARD:0003057	ordo_malformation_syndrome	Jorgenson Lenz syndrome|mild short stature, microcephaly, ptosis-blepharophimosis, facial asymmetry, and radioulnar synostosis|ptosis, prognathism, microcephaly, radio-ulnar synostosis, short stature/dwarfism|blepharophimosis radioulnar synostosis|Jorgenson-Lenz syndrome	http://purl.obolibrary.org/obo/MONDO_0015255		ORPHA:1256|MESH:C536292|UMLS:C2931162
MONDO:0015254	schistosomiasis	biolink:Disease	mondo	GARD:0009687|MESH:D012552|ICD10:B65.2|MedDRA:10039603|ICD10:B65.3|ICD10:B65.1|ICD10:B65.0|Orphanet:1247|NCIT:C35000|UMLS:C0036323|EFO:1001475|ICD9:120.9|ICD10:B65.9|ICD9:120.8|ICD10:B65.8|DOID:1395|SCTID:10087007	ordo_disease	schistosomiasis|Bilharzia|bilharziasis|snail fever	http://purl.obolibrary.org/obo/MONDO_0015254	An infectious disease caused by parasitic trematodes of the genus Schistosoma that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer's itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifestations of chronic schistosomiasis can include diarrhea, abdominal pain, loss of appetite, anemia (intestines), hepatosplenism, periportal fibrosis with portal hypertension (liver), urogenital inflammation and scarring, hematuria and dysuria (genitourinary system). Other patients may be asymptomatic.	MEDDRA:10039603|NCIT:C35000|SNOMEDCT:10087007|ORPHA:1247|MESH:D012552|UMLS:C0036323|DOID:1395
MONDO:0054862	premature ovarian failure 15	biolink:Disease	mondo	OMIM:618096		premature ovarian failure 15; POF15|POF15	http://purl.obolibrary.org/obo/MONDO_0054862		http://identifiers.org/omim/618096
MONDO:0015253	Diamond-Blackfan anemia	biolink:Disease	mondo	UMLS:C1260899|ICD10:D61.01|NCIT:C61236|Orphanet:124|DOID:1339|ICD10:D61.0|UMLS:C0265265|MESH:D029503|MedDRA:10062989|OMIMPS:105650|SCTID:88854002|GARD:0006274	clingen|ordo_disease	Red cell aplasia, pure hereditary|congenital pure red cell aplasia|DBA|inherited erythroblastopenia|congenital hypoplastic anemia, Blackfan-Diamond type|Blackfan-Diamond anemia|chronic constitutional pure red cell anaemia|anemia congenital erythroid hypoplastic|Blackfan - Diamond syndrome|BDS|Aase syndrome|aregenerative anemia chronic congenital|congenital PRCA|erythrogenesis imperfecta|Blackfan Diamond syndrome|Aase-Smith II syndrome|congenital hypoplastic anemia|anemia Diamond Blackfan type	http://purl.obolibrary.org/obo/MONDO_0015253	A congenital aregenerative and often macrocytic anemia with erythroblastopenia.	MESH:D029503|UMLS:C1260899|SNOMEDCT:88854002|UMLS:C0265265|ORPHA:124|NCIT:C61236|MEDDRA:10062989|DOID:1339
MONDO:0054861	intellectual disability, autosomal recessive 63	biolink:Disease	mondo	OMIM:618095		intellectual disability, autosomal recessive 63; MRT63|mental retardation, autosomal recessive 63; MRT63|MRT63	http://purl.obolibrary.org/obo/MONDO_0054861		http://identifiers.org/omim/618095
MONDO:0054846	epilepsy, familial adult myoclonic, 6	biolink:Disease	mondo	OMIM:618074|DOID:0111696|UMLS:CN252655		benign Adult Familial myoclonic epilepsy 6|epilepsy, FAMILIAL ADULT myoclonic, 6; FAME6|FAME6|cortical myoclonic tremor with epilepsy, Familial, 6	http://purl.obolibrary.org/obo/MONDO_0054846		http://identifiers.org/omim/618074|DOID:0111696|UMLS:CN252655
MONDO:0054845	developmental and epileptic encephalopathy, 66	biolink:Disease	mondo	OMIM:618067|DOID:0080446|UMLS:CN252658		epileptic encephalopathy, early infantile, 66; EIEE66|DEE66|EIEE66|epileptic encephalopathy, early infantile, 66	http://purl.obolibrary.org/obo/MONDO_0054845		DOID:0080446|http://identifiers.org/omim/618067|UMLS:CN252658
MONDO:0054844	pontocerebellar hypoplasia, type 1d	biolink:Disease	mondo	OMIM:618065|UMLS:CN252648		pontocerebellar hypoplasia, type 1D; PCH1D|PCH1D	http://purl.obolibrary.org/obo/MONDO_0054844		http://identifiers.org/omim/618065|UMLS:CN252648
MONDO:0054843	ciliary dyskinesia, primary, 38	biolink:Disease	mondo	UMLS:CN252651|OMIM:618063		ciliary dyskinesia, PRIMARY, 38; CILD38|CILD38|ciliary dyskinesia, Primary, 38, with or without situs inversus	http://purl.obolibrary.org/obo/MONDO_0054843		http://identifiers.org/omim/618063|UMLS:CN252651
MONDO:0003278	inner ear cancer	biolink:Disease	mondo	DOID:5102		cancer of internal ear|internal ear cancer|malignant neoplasm of internal ear|malignant internal ear neoplasm	http://purl.obolibrary.org/obo/MONDO_0003278	A malignant neoplasm involving the internal ear.	DOID:5102
MONDO:0003279	testicular infarct	biolink:Disease	mondo	UMLS:C0392041|SCTID:33793000|DOID:5104|NCIT:C27617		infarction of testis|testicular infarction	http://purl.obolibrary.org/obo/MONDO_0003279	Ischemic necrosis of the testis usually caused by torsion of the spermatic cord, trauma, or severe epididymo-orchitis.	UMLS:C0392041|DOID:5104|SNOMEDCT:33793000|NCIT:C27617
MONDO:0054849	inflammatory bowel disease 29	biolink:Disease	mondo	OMIM:618077		IBD29|inflammatory bowel disease 29; IBD29	http://purl.obolibrary.org/obo/MONDO_0054849		http://identifiers.org/omim/618077
MONDO:0054847	epilepsy, familial adult myoclonic, 7	biolink:Disease	mondo	DOID:0111694|UMLS:CN252654|OMIM:618075		benign Adult Familial myoclonic epilepsy 7|FAME7|epilepsy, FAMILIAL ADULT myoclonic, 7; FAME7|cortical myoclonic tremor with epilepsy, Familial, 7	http://purl.obolibrary.org/obo/MONDO_0054847		http://identifiers.org/omim/618075|DOID:0111694|UMLS:CN252654
MONDO:0003274	thoracic cancer	biolink:Disease	mondo	DOID:5093|ICD9:195.1|SCTID:188361007|ICD10:C76.1|NCIT:C3576|UMLS:C0153661		malignant neoplasm of thorax|thoracic tumor|malignant neoplasm of the thorax|cancer of thoracic segment of trunk|tumor of thorax|thoracic segment of trunk cancer|malignant tumor of thorax|malignant neoplasm of thoracic segment of trunk|malignant thoracic segment of trunk neoplasm|malignant tumor of the thorax|thorax neoplasm|malignant thoracic neoplasm|malignant thoracic tumor|thorax cancer	http://purl.obolibrary.org/obo/MONDO_0003274	A primary or metastatic malignant neoplasm affecting the tissues of the thorax.	UMLS:C0153661|NCIT:C3576|DOID:5093|SNOMEDCT:188361007
MONDO:0003275	middle ear cancer	biolink:Disease	mondo	NCIT:C4765|SCTID:363359008|DOID:5099		tumor of the middle ear|malignant neoplasm of middle ear|malignant middle ear neoplasm|malignant neoplasm of the middle Ear|malignant middle Ear tumor|cancer of middle ear|middle ear cancer|neoplasm of middle ear|malignant tumor of middle Ear|malignant tumor of the middle Ear	http://purl.obolibrary.org/obo/MONDO_0003275	A malignant neoplasm involving the middle ear	NCIT:C4765|DOID:5099|SNOMEDCT:363359008
MONDO:0003276	middle ear disease	biolink:Disease	mondo	UMLS:C0271428|COHD:374364|DOID:5100|NCIT:C27065|SCTID:68996008		middle Ear disorder|middle ear disease or disorder|disorder of middle ear|disorder of middle ear|disease or disorder of middle ear|disease of middle ear|middle ear disease	http://purl.obolibrary.org/obo/MONDO_0003276	A disease involving the middle ear.	SNOMEDCT:68996008|UMLS:C0271428|DOID:5100|NCIT:C27065
MONDO:0003277	malignant ear neoplasm	biolink:Disease	mondo	UMLS:C0751094|MESH:D004428|NCIT:C9337|DOID:5101|SCTID:443648003		cancer of ear|malignant tumor of ear|malignant neoplasm of the Ear|malignant neoplasm of Ear|malignant Ear tumor|malignant neoplasm of ear|ear cancer|malignant Ear neoplasm|auricular cancer|malignant ear neoplasm|malignant tumor of the Ear|malignant tumor of Ear	http://purl.obolibrary.org/obo/MONDO_0003277	A malignant neoplasm that affects the ear. Representative examples include ceruminous adenocarcinoma and squamous cell carcinoma of the external ear and adenocarcinoma of the middle ear.	MESH:D004428|SNOMEDCT:443648003|DOID:5101|NCIT:C9337|UMLS:C0751094
MONDO:0003270	obsolete ganglioglioma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003270		
MONDO:0003271	iodine hypothyroidism	biolink:Disease	mondo	SCTID:190279008|DOID:5083|UMLS:C0154159|COHD:140062|ICD9:244.2			http://purl.obolibrary.org/obo/MONDO_0003271		DOID:5083|UMLS:C0154159|SNOMEDCT:190279008
MONDO:0003272	mixed epithelial stromal tumor	biolink:Disease	mondo	DOID:5088		mixed epithelial stromal tumour	http://purl.obolibrary.org/obo/MONDO_0003272		DOID:5088
MONDO:0003273	sternum cancer	biolink:Disease	mondo	DOID:5090|UMLS:C1382025|NCIT:C8408		malignant tumor of sternum|neoplasm of sternum|neoplasm of sternum|sternal tumor|malignant neoplasm of sternum|malignant sternal tumor|malignant neoplasm of the sternum|sternum cancer|malignant sternum neoplasm|malignant sternal neoplasm|cancer of sternum|malignant tumor of the sternum	http://purl.obolibrary.org/obo/MONDO_0003273	A malignant neoplasm involving the sternum	DOID:5090|NCIT:C8408|UMLS:C1382025
MONDO:0015249	mitral atresia disorder	biolink:Disease	mondo	ICD10:Q23.2|HP:0011560|NCIT:C98992|Orphanet:1205|GARD:0003685|SCTID:23063005	ordo_morphological_anomaly	mitral atresia|mitral valve atresia|congenital atresia of mitral valve|congenital mitral valve atresia	http://purl.obolibrary.org/obo/MONDO_0015249	A congenital heart defect characterized by the complete atresia of the mitral valve.	NCIT:C98992|ORPHA:1205|SNOMEDCT:23063005
MONDO:0015248	ataxia-photosensitivity-short stature syndrome	biolink:Disease	mondo	Orphanet:1184|UMLS:CN237421	ordo_malformation_syndrome	Fenton-Wilkinson-Toselano syndrome	http://purl.obolibrary.org/obo/MONDO_0015248	Ataxia-photosensitivity-short stature syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additonal features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983.	ORPHA:1184|UMLS:CN237421
NCBITaxon:34619	Dermacentor	organism taxon	mondo	GC_ID:1		Anocentor	http://purl.obolibrary.org/obo/NCBITaxon_34619		
MONDO:0015247	opsoclonus-myoclonus syndrome	biolink:Disease	mondo	MedDRA:10053854|GARD:0010009|Orphanet:1183|UMLS:C0393626|NCIT:C4686|ICD9:379.59|ICD10:G25.3|SCTID:230350000|MESH:D053578|EFO:1001383	ordo_disease	dancing eye-dancing feet syndrome|paraneoplastic opsoclonus-myoclonus|opsoclonus-myoclonus-ataxia syndrome|Ataxo-opso-myoclonus syndrome|dancing eye syndrome|oma syndrome|POMA syndrome|Kinsbourne syndrome|opsoclonus myoclonus syndrome|paraneoplastic opsoclonus-myoclonus-ataxia syndrome|OMS	http://purl.obolibrary.org/obo/MONDO_0015247	Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders.	UMLS:C0393626|NCIT:C4686|ORPHA:1183|MEDDRA:10053854|UMLS:C1096154|MESH:D053578|SNOMEDCT:230350000
MONDO:0015246	syndromic anorectal malformation	biolink:Disease	mondo	Orphanet:117573|UMLS:CN226645	ordo_group_of_disorders	syndromic anorectal malformation|syndrome associated with anorectal malformation|syndrome associated with anorectal malformation	http://purl.obolibrary.org/obo/MONDO_0015246	A anorectal malformation that is part of a larger syndrome.	UMLS:CN226645|ORPHA:117573
MONDO:0015241	arthrogryposis-like syndrome	biolink:Disease	mondo	ICD9:719.89|SCTID:702447002|Orphanet:1149|GARD:0000783|GARD:0003150	ordo_malformation_syndrome|gard_rare	Kuskokwim syndrome|arthrogryposis like disorder|Kuskokwim disease	http://purl.obolibrary.org/obo/MONDO_0015241	Arthrogryposis-like syndrome, also known as Kuskokwim disease, is a very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested.	SNOMEDCT:702447002|ORPHA:1149|http://identifiers.org/omim/208200
NCBITaxon:34613	Ixodes ricinus	organism taxon	mondo	GC_ID:1		castor bean tick	http://purl.obolibrary.org/obo/NCBITaxon_34613		
HGNC:17797	MAP3K20	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17797		
MONDO:0015240	digitotalar dysmorphism	biolink:Disease	mondo	Orphanet:1146|UMLS:C1852085|GARD:0000787|ICD10:Q68.8|UMLS:C0220662|UMLS:CN197602	gard_rare|ordo_malformation_syndrome	distal arthrogryposis type 1|arthrogryposis multiplex congenita distal type 1|DA1|distal arthrogryposis type 1A (sub-type)|AMCD1|digitotalar dysmorphism|distal arthrogryposis type 1B (sub-type)	http://purl.obolibrary.org/obo/MONDO_0015240	Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis.	UMLS:CN197602|ORPHA:1146|UMLS:C1852085|UMLS:C0220662
NCBITaxon:129726	Pseudocowpox virus	organism taxon	mondo	GC_ID:1		Pseudocowpoxvirus	http://purl.obolibrary.org/obo/NCBITaxon_129726		
MONDO:0015245	obsolete rare intestinal disease	biolink:Disease	mondo	Orphanet:117569	obsoletion_candidate|ordo_group_of_disorders	rare intestinal disease	http://purl.obolibrary.org/obo/MONDO_0015245	Rare intestinal disease.	ORPHA:117569
MONDO:0015244	autosomal recessive cerebellar ataxia	biolink:Disease	mondo	Orphanet:1172|UMLS:CN226644|DOID:0050950|OMIMPS:213200	ordo_group_of_disorders	arca|cerebellar ataxia, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0015244	Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years.	ORPHA:1172|UMLS:CN226644|DOID:0050950
MONDO:0054852	peeling skin syndrome 6	biolink:Disease	mondo	OMIM:618084		PSS6|peeling skin syndrome 6; PSS6	http://purl.obolibrary.org/obo/MONDO_0054852		http://identifiers.org/omim/618084
MONDO:0015243	allergic bronchopulmonary aspergillosis	biolink:Disease	mondo	COHD:257583|NCIT:C84547|ICD10:B44.1+|GARD:0000602|EFO:0007140|UMLS:C0004031|ICD9:518.6|ICD10:J99.8*|SCTID:37981002|MESH:D001229|Orphanet:1164|OMIM:103920|DOID:13166|MedDRA:10006474|ICD10:B44.81	ordo_disease|gard_rare	Hinson-Pepys disease|aspergillosis, allergic bronchopulmonary|allergic bronchopulmonary aspergillosis, familial|pulmonary aspergillus disease|allergic aspergillosis|allergic bronchopulmonary mycosis|ABPA	http://purl.obolibrary.org/obo/MONDO_0015243	Allergic bronchopulmonary aspergillosis (ABPA) is a rare immunologic pulmonary disorder caused by hypersensitivity to Aspergillus fumigatus, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates.	UMLS:C0004031|NCIT:C84547|http://identifiers.org/omim/103920|MESH:D001229|ORPHA:1164|MEDDRA:10006474|SNOMEDCT:37981002|DOID:13166
MONDO:0054850	ovarian dysgenesis 6	biolink:Disease	mondo	DOID:0080498|OMIM:618078		ovarian dysgenesis 6; ODG6|ODG6	http://purl.obolibrary.org/obo/MONDO_0054850		DOID:0080498|http://identifiers.org/omim/618078
MONDO:0015242	obsolete aspergillosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015242		
MONDO:0003249	pineal gland cancer	biolink:Disease	mondo	NCIT:C3573|ICD10:C75.3|DOID:5032|SCTID:363483004|ICD9:194.4		malignant neoplasm of pineal body|pineal body neoplasm|malignant tumor of the pineal gland|neoplasm of the pineal region|pineal body cancer|pinealoma|Pineocytic tumor|neoplasm of pineal gland|malignant pineal area tumor|malignant pineal body neoplasm|malignant pineal region tumor|malignant pineal region neoplasm|malignant neoplasm of pineal gland|malignant neoplasm of the pineal gland|malignant pineal gland tumor|malignant tumor of pineal gland|cancer of pineal body|tumor of the pineal region|malignant pineal gland neoplasm|malignant pineal area neoplasm	http://purl.obolibrary.org/obo/MONDO_0003249	Abnormal malignant growth of the cells that comprise the pineal parenchyma.	NCIT:C3573|DOID:5032|SNOMEDCT:363483004
GO:0071383	cellular response to steroid hormone stimulus	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0071383	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a steroid hormone stimulus.	
MONDO:0003245	aflatoxin-related hepatocellular carcinoma	biolink:Disease	mondo	DOID:5022|UMLS:C1332222|NCIT:C27922		aflatoxins-related hepatocellular cancer|aflatoxins-related hepatocellular carcinoma	http://purl.obolibrary.org/obo/MONDO_0003245	A hepatocellular carcinoma that develops following exposure to aflatoxin.	NCIT:C27922|DOID:5022|UMLS:C1332222
MONDO:0003246	sclerosing hepatic carcinoma	biolink:Disease	mondo	DOID:5026|ICDO:8172/3|UMLS:C1266018|NCIT:C27388		sclerosing hepatic carcinoma|scirrhous hepatocellular cancer|sclerosing hepatocellular carcinoma|scirrhous hepatocellular carcinoma	http://purl.obolibrary.org/obo/MONDO_0003246	An uncommon type of hepatocelluar carcinoma, morphologically characterized by significant fibrosis around the sinusoid-like spaces and atrophy of the tumor trabeculae.	NCIT:C27388|DOID:5026|UMLS:C1266018
MONDO:0003247	obsolete pineal parenchymal tumor of intermediate differentiation	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003247		
MONDO:0003248	adult pineal parenchymal tumor	biolink:Disease	mondo	DOID:5031|NCIT:C8273|UMLS:C0280794		parenchymal tumor of adult pineal gland|pineal parenchymal cell neoplasm of adults|pineal parenchymal cell tumor|parenchymal tumor of the adult pineal gland|parenchymal neoplasm of adult pineal gland|parenchymal neoplasm of the adult pineal gland|adult pineal parenchymal cell neoplasm|adult pineal gland neoplasm|adult pineal parenchymal cell tumor|adult pineal gland tumor|adult pineal parenchymal tumor|adult pineal parenchymal neoplasm	http://purl.obolibrary.org/obo/MONDO_0003248	A pineal parenchymal cell neoplasm (pineocytoma or pineoblastoma) occurring in adults.	UMLS:C0280794|DOID:5031|NCIT:C8273
MONDO:0003241	central nervous system hemangioma	biolink:Disease	mondo	UMLS:C1333957|NCIT:C7004|DOID:501		hemangioma of the CNS|hemangioma of CNS|hemangioma of central nervous system|hemangioma of the central nervous system|central nervous system hemangioma	http://purl.obolibrary.org/obo/MONDO_0003241	A hemangioma arising from the brain and spinal cord.	UMLS:C1333957|DOID:501|NCIT:C7004
MONDO:0003242	obsolete fibrolamellar carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003242		
MONDO:0003243	hepatocellular clear cell carcinoma	biolink:Disease	mondo	UMLS:C1333067|NCIT:C5754|ICDO:8174/3|DOID:5016		clear cell hepatocellular cancer|hepatocellular clear cell carcinoma|clear cell hepatocellular carcinoma|clear cell carcinoma of liver cells|liver cell clear cell carcinoma|clear cell carcinoma of the liver cells	http://purl.obolibrary.org/obo/MONDO_0003243	A morphologic variant of hepatocellular carcinoma characterized by the presence of clear cells.	NCIT:C5754|UMLS:C1333067|DOID:5016
MONDO:0003244	central nervous system mesenchymal non-meningothelial tumor	biolink:Disease	mondo	NCIT:C5449|UMLS:C1332893|DOID:502		soft tissue tumor of the CNS|soft tissue tumor of CNS|CNS soft tissue neoplasm|central nervous system soft tissue neoplasm|soft tissue neoplasm of the CNS|soft tissue neoplasm of CNS|mesenchymal, non-meningothelial tumor of central nervous system|central nervous system soft tissue tumor|CNS soft tissue tumor|mesenchymal, non-meningothelial tumor of the CNS|non-meningothelial mesenchymal tumor|mesenchymal, non-meningothelial tumor of CNS|mesenchymal non-meningothelial tumor of the central nervous system|soft tissue neoplasm of central nervous system|central nervous system mesenchymal, non-meningothelial neoplasm|soft tissue neoplasm of the central nervous system|soft tissue tumor of central nervous system|soft tissue tumor of the central nervous system|central nervous system mesenchymal, non-meningothelial tumor	http://purl.obolibrary.org/obo/MONDO_0003244	A benign or malignant mesenchymal neoplasm originating in the central nervous system or the meninges and showing fibrous, fibrohistiocytic, adipose, myoid, endothelial, chondroid or osseous, but not meningothelial differentiation. Depending on the histological features and clinical behavior of these neoplasms, their grade ranges from benign (WHO grade I) to highly malignant (WHO grade IV). (Adapted from WHO)	NCIT:C5449|DOID:502|UMLS:C1332893
MONDO:0003240	thyroid gland disease	biolink:Disease	mondo	EFO:1000627|MESH:D013959|ICD10:E07.9|DOID:50|Wikipedia:Thyroid_disease|ICD9:240-246.99|ICD10:E00-E07|SCTID:14304000|UMLS:C0040128|COHD:141253|NCIT:C26893|ICD9:246.8|ICD10:E00.E07|ICD9:246.9		thyroid gland disease or disorder|disease of thyroid gland|thyroid gland diseases|thyroid disease|disorder of thyroid gland|thyroid gland diseases|disorder of thyroid gland|thyroid gland disease|thyroid gland disorders|thyroid gland disorder|disease or disorder of thyroid gland	http://purl.obolibrary.org/obo/MONDO_0003240	A disease involving the thyroid gland.	NCIT:C26893|DOID:50|MESH:D013959|UMLS:C0040128|SNOMEDCT:14304000
MONDO:0015238	arrhinia-choanal atresia-microphthalmia syndrome	biolink:Disease	mondo	GARD:0008755|ICD10:Q87.0|Orphanet:1135	ordo_malformation_syndrome|gard_rare	congenital absence of nose and anterior nasopharynx|arhinia choanal atresia microphthalmia|Bosma arhinia microphthalmia syndrome|Bosma Henkin Christiansen syndrome	http://purl.obolibrary.org/obo/MONDO_0015238	Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	ORPHA:1135
MONDO:0015237	arrhinia	biolink:Disease	mondo	GARD:0000364|ICD10:Q30.1|SCTID:111317000|MESH:C537438|Orphanet:1134|ICD9:748.1	ordo_malformation_syndrome|gard_rare	Nose agenesia|isolated nose agenesis|congenital absence of the nose|isolated arrhinia|Nose agenesis	http://purl.obolibrary.org/obo/MONDO_0015237	Arrhinia is an extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia.	ORPHA:1134|MESH:C537438|UMLS:C0265740|SNOMEDCT:111317000
MONDO:0015236	aortic arch defects	biolink:Disease	mondo	Orphanet:1132|ICD10:Q25.4|GARD:0000741	ordo_group_of_disorders|gard_rare		http://purl.obolibrary.org/obo/MONDO_0015236	Congenital abnormalities of the aortic arch result from aberrant development of one or more components of the embyronic pharangeal arch system. Any component of tihs system can regress or persist abnormally, resulting in an extensive array of aortic arch anomalies. Clinically, they are classified by those that cause (or are likely to cause) physiolgogical abnormalities and those that do not. Physiologic abnormalities include tracheobronchial compression, esophageeal compression, and abnormal blood flow patteren.	ORPHA:1132
MONDO:0015235	arachnodactyly-intellectual disability-dysmorphism syndrome	biolink:Disease	mondo	Orphanet:1130|GARD:0000764|ICD10:Q87.8|UMLS:CN197590|SCTID:720502000	ordo_malformation_syndrome	De Die-Smulders-Vles-Fryns syndrome|arachnodactyly - intellectual disability - dysmorphism	http://purl.obolibrary.org/obo/MONDO_0015235	Arachnodactyly-intellectual disability-dysmorphism syndrome is characterized by moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes, and hypoplastic external genitalia. It has been described in three patients.	UMLS:CN197590|ORPHA:1130|SNOMEDCT:720502000
GO:0034399	nuclear periphery	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0034399	The portion of the nuclear lumen proximal to the inner nuclear membrane.	
NCBITaxon:34609	Amblyomma maculatum	organism taxon	mondo	GC_ID:1		Gulf Coast tick	http://purl.obolibrary.org/obo/NCBITaxon_34609		
MONDO:0017897	autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency	biolink:Disease	mondo	Orphanet:319535|UMLS:CN203953|ICD10:D84.8	ordo_group_of_disorders|predisposition	mendelian susceptibility to mycobacterial diseases due to a complete deficiency, autosomal recessive|autosomal recessive MSMD due to a complete deficiency	http://purl.obolibrary.org/obo/MONDO_0017897	Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency.	ORPHA:319535|UMLS:CN203953
HGNC:17768	TDP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17768		
MONDO:0017898	autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency	biolink:Disease	mondo	UMLS:CN203954|ICD10:D84.8|Orphanet:319539	ordo_group_of_disorders|predisposition	autosomal recessive MSMD due to a partial deficiency|mendelian susceptibility to mycobacterial diseases due to a partial deficiency, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0017898	Autosomal recessive form of mendelian susceptibility to mycobacterial diseases due to a partial deficiency.	ORPHA:319539|UMLS:CN203954
NCBITaxon:34607	Amblyomma cajennense	organism taxon	mondo	GC_ID:1		Cayenne tick|Acarus cajennensis	http://purl.obolibrary.org/obo/NCBITaxon_34607		
MONDO:0017899	autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency	biolink:Disease	mondo	Orphanet:319543|ICD10:D84.8|UMLS:CN203955	ordo_group_of_disorders|predisposition	mendelian susceptibility to mycobacterial diseases due to a partial deficiency, autosomal dominant|autosomal dominant MSMD due to a partial deficiency	http://purl.obolibrary.org/obo/MONDO_0017899	Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8).	ORPHA:319543|UMLS:CN203955
MONDO:0015239	abnormal origin of the pulmonary artery	biolink:Disease	mondo	ICD10:Q25.7|SCTID:68092007|Orphanet:1138	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015239		SNOMEDCT:68092007|ORPHA:1138
MONDO:0015230	anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome	biolink:Disease	mondo	GARD:0000717|SCTID:720495005|UMLS:CN197570|Orphanet:1101|ICD10:Q87.8	gard_rare|ordo_malformation_syndrome	Cassia Stocco dos Santos syndrome|anophthalmia megalocornea cardiopathy skeletal anomalies	http://purl.obolibrary.org/obo/MONDO_0015230	Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome is a multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992.	UMLS:CN197570|ORPHA:1101|SNOMEDCT:720495005
MONDO:0017893	inherited acute myeloid leukemia	biolink:Disease	mondo	UMLS:CN203946|Orphanet:319465|SCTID:764940002|ICD10:C92.0	ordo_disease	familial AML|Pure familial acute myeloid leukemia|inherited AML|Pure familial AML|hereditary acute myeloid leukemia	http://purl.obolibrary.org/obo/MONDO_0017893	An instance of acute myeloid leukemia that is caused by an inherited modification of the individual's genome.	ORPHA:319465|UMLS:CN203946|SNOMEDCT:764940002
MONDO:0017894	acute myeloid leukemia with CEBPA somatic mutations	biolink:Disease	mondo	UMLS:C2826178|SCTID:764855007|ICD10:C92.0|Orphanet:319480|NCIT:C82433	ordo_disease	AML with mutated CEBPA|acute myeloid Leukemia with mutated CEBPA|non-familial acute myeloid leukemia with mutated CEBPA|AML with CEBPA somatic mutations|acute myeloid Leukemia with non-germline mutated CEBPA	http://purl.obolibrary.org/obo/MONDO_0017894	Acute myeloid leukemia with CEBPA somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly).	ORPHA:319480|SNOMEDCT:764855007|NCIT:C82433|UMLS:C2826178
MONDO:0017895	familial papillary or follicular thyroid carcinoma	biolink:Disease	mondo	NCIT:C118829|Orphanet:319487|UMLS:C3896673|UMLS:CN227215|ICD10:C73	ordo_disease	FNMTC|familial nonmedullary thyroid gland carcinoma|familial pure nonmedullary thyroid carcinoma	http://purl.obolibrary.org/obo/MONDO_0017895	A papillary or follicular thyroid gland carcinoma with a genetic component that develops within the same family. Current studies suggest that it is inherited in an autosomal dominant pattern. It is often multifocal and bilateral and usually affects younger patients.	UMLS:C3896673|ORPHA:319487|UMLS:CN227215|NCIT:C118829
HGNC:30740	TARS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30740		
MONDO:0017896	familial nonmedullary thyroid carcinoma	biolink:Disease	mondo	OMIMPS:188550|UMLS:C3501843|DC:0000711|Orphanet:319494|ICD10:C73|UMLS:CN227216	ordo_group_of_disorders	thyroid cancer, nonmedullary	http://purl.obolibrary.org/obo/MONDO_0017896	Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting.	ORPHA:319494|UMLS:CN227216|UMLS:C3501843
MONDO:0015234	arachnodactyly-abnormal ossification-intellectual disability syndrome	biolink:Disease	mondo	MESH:C537024|ICD10:Q87.8|SCTID:720501007|UMLS:C2931398|Orphanet:1129|GARD:0000381	ordo_malformation_syndrome	arachnodactyly, abnormal ossification and mental retardation|Kosztolanyi syndrome|arachnodactyly, abnormal ossification and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0015234	Arachnodactyly - abnormal ossification - intellectual disability is a multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability.	UMLS:C2931398|ORPHA:1129|MESH:C537024|SNOMEDCT:720501007
MONDO:0017890	tubulocystic renal cell carcinoma	biolink:Disease	mondo	Orphanet:319325|SCTID:733603009|NCIT:C126303|ICD10:C64|UMLS:C4288091	ordo_disease	Tubulocystic renal cell cancer	http://purl.obolibrary.org/obo/MONDO_0017890	Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy ("bubble wrap-like") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver mestatsis have been reported.	ORPHA:319325|SNOMEDCT:733603009|NCIT:C126303|UMLS:C4288091
MONDO:0015233	caudal appendage-deafness syndrome	biolink:Disease	mondo	GARD:0001163|UMLS:C2931593|MESH:C537713|SCTID:726621009|Orphanet:1123	ordo_malformation_syndrome	Lynch-Lee-Murday syndrome|caudal appendage, short terminal phalanges, deafness, cryptorchidism and mental retardation|Lynch Lee Murday syndrome|caudal appendage, short terminal phalanges, deafness, cryptorchidism and intellectual disability|caudal appendage deafness	http://purl.obolibrary.org/obo/MONDO_0015233	Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys.	SNOMEDCT:726621009|UMLS:C2931593|ORPHA:1123|MESH:C537713
MONDO:0017891	inherited renal cancer-predisposing syndrome	biolink:Disease	mondo	UMLS:CN203941|Orphanet:319328	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017891		ORPHA:319328|UMLS:CN203941
MONDO:0015232	radial deficiency-tibial hypoplasia syndrome	biolink:Disease	mondo	UMLS:CN226642|ICD10:Q73.8|Orphanet:1121	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0015232		ORPHA:1121|UMLS:CN226642
MONDO:0015231	Bartter syndrome	biolink:Disease	mondo	SCTID:707742001|GARD:0005893|ICD10:E26.8|Orphanet:112|MESH:D001477|NCIT:C34412|UMLS:C0004775|UMLS:C0085570|MedDRA:10050839|COHD:45769152|ICD10:E26.81|OMIMPS:601678|ICD9:255.13|DOID:445	ordo_disease|gard_rare	renal tubular normotensive hypokalemic alkalosis with hypercalciuria|Potassium wasting|hypokalemic alkalosis|hypokalemic alkalosis with hypercalciuria|aldosteronism with hyperplasia of the adrenal cortex|Bartter disease|Bartter's syndrome|salt-wasting tubulopathy, Henle's loop type|salt-losing tubular disorder, Henle's loop type	http://purl.obolibrary.org/obo/MONDO_0015231	Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.	UMLS:C0004775|UMLS:C0085570|MESH:D001477|SNOMEDCT:707742001|DOID:445|ORPHA:112|NCIT:C34412|MEDDRA:10050839
MONDO:0017892	autosomal recessive myogenic arthrogryposis multiplex congenita	biolink:Disease	mondo	Orphanet:319332|SCTID:764812008|UMLS:CN203942|ICD10:Q74.3	ordo_disease	SYNE1-related arthrogryposis multiplex congenita|autosomal recessive myogenic AMC|SYNE1-related AMC	http://purl.obolibrary.org/obo/MONDO_0017892	Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life.	ORPHA:319332|UMLS:CN203942|SNOMEDCT:764812008
HGNC:17761	TREM2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17761		
MONDO:0054868	meconium ileus	biolink:Disease	mondo	SCTID:206523001|NCIT:C98979		meconium ileus	http://purl.obolibrary.org/obo/MONDO_0054868	Small intestinal obstruction that results from the impaction of thick meconium in the distal small intestine.	SNOMEDCT:206523001|NCIT:C98979
MONDO:0054867	paraomphalocele	biolink:Disease	mondo	MESH:C537170		Paraomphalocele, hypogastric|Paraomphalocele, epigastric	http://purl.obolibrary.org/obo/MONDO_0054867		MESH:C537170
MONDO:0054866	sudden arrhythmia death syndrome	biolink:Disease	mondo	UMLS:C2721586|SCTID:735686002|GARD:0009434	gard_rare	SADS|sudden cardiac death due to cardiac arrhythmia|sudden arrhythmic death syndrome	http://purl.obolibrary.org/obo/MONDO_0054866		SNOMEDCT:735686002|UMLS:C2721586
MONDO:0054865	encephalopathy due to mitochondrial and peroxisomal fission defect	biolink:Disease	mondo	OMIMPS:614388|Orphanet:527276	ordo_disease	encephalopathy due to defective mitochondrial and peroxisomal fission	http://purl.obolibrary.org/obo/MONDO_0054865		ORPHA:527276
MONDO:0003256	neurohypophysis granular cell tumor	biolink:Disease	mondo	NCIT:C7017|SCTID:699331002|ICDO:9582/0|UMLS:C1333873|EFO:1000285|DOID:5047		granular cell tumor of the Neurohypophysis (WHO grade I)|granular cell tumor of Neurohypophysis|granular cell tumor of the posterior pituitary gland|granular cell tumor of neurohypophysis|granular cell tumor of the neurohypophysis|neurohypophysis granular cell tumor	http://purl.obolibrary.org/obo/MONDO_0003256	A generally benign intrasellar and/or suprasellar mass arising from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. It generally has a slow progression and lacks invasive growth. (Adapted from WHO)	DOID:5047|UMLS:C1333873|NCIT:C7017|SNOMEDCT:699331002
MONDO:0003257	posterior pituitary gland neoplasm	biolink:Disease	mondo	UMLS:C1334957|NCIT:C7157|DOID:5048		posterior pituitary tumor|PITUICYTOMA, benign|neurohypophysis neoplasm (disease)|neoplasm of neurohypophysis|neurohypophysis tumor|Neurohypophysis tumor|posterior pituitary neoplasm|tumor of neurohypophysis|neurohypophysis neoplasm|posterior pituitary gland neoplasm|posterior pituitary gland tumor|Neurohypophysis neoplasm	http://purl.obolibrary.org/obo/MONDO_0003257	A low-grade neoplasm that arises from the neurohypophysis. It includes the granular cell tumor of the neurohypophysis and pituicytoma.	DOID:5048|UMLS:C1334957|NCIT:C7157
MONDO:0003258	hobnail hemangioma	biolink:Disease	mondo	NCIT:C27506|SCTID:254790003|DOID:505|UMLS:C0346076		hobnail hemangioma|Targetoid Hemosiderotic hemangioma	http://purl.obolibrary.org/obo/MONDO_0003258	A hemangioma characterized by the presence of hobnail endothelial cells.	NCIT:C27506|UMLS:C0346076|SNOMEDCT:254790003|DOID:505
MONDO:0054869	nondystrophic myotonia	biolink:Disease	mondo	MESH:C536245|GARD:0009852	gard_rare	NDM	http://purl.obolibrary.org/obo/MONDO_0054869		MESH:C536245
MONDO:0003259	obsolete melioidosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003259		
MONDO:0003252	granular cell cancer	biolink:Disease	mondo	UMLS:C0334618|SCTID:404041003|DOID:5042|ICD9:171.9|ICDO:9580/3|NCIT:C4336		malignant granular cell tumor|malignant granular cell neoplasm|myoblastoma, malignant|granular cell tumor, malignant (morphologic abnormality)|granular cell tumor, malignant|malignant granular cell myoblastoma	http://purl.obolibrary.org/obo/MONDO_0003252	An uncommon granular cell tumor which may metastasize to other anatomic sites. Morphologic characteristics include the presence of spindling neoplastic cells, necrosis, extensive pleomorphism, prominent nucleoli, and increased mitiotic activity.	NCIT:C4336|UMLS:C0334618|DOID:5042|SNOMEDCT:404041003
MONDO:0003253	vulvar granular cell tumor	biolink:Disease	mondo	DOID:5043|NCIT:C40328|UMLS:C1520083		vulvar granular cell tumor|granular cell tumor of mammalian vulva|mammalian vulva granular cell tumor	http://purl.obolibrary.org/obo/MONDO_0003253	A usually benign granular cell tumor that arises from the vulva.	UMLS:C1520083|NCIT:C40328|DOID:5043
MONDO:0003254	cardiac granular cell neoplasm	biolink:Disease	mondo	NCIT:C5360|DOID:5044|UMLS:C1332845		granular cell neoplasm of the heart|granular cell neoplasm of heart|granular cell tumor of heart|granular cell tumor of the heart|Cardiac granular cell tumor|Cardiac granular cell neoplasm|heart granular cell tumor	http://purl.obolibrary.org/obo/MONDO_0003254	A very rare granular cell tumor that arises from the heart.	NCIT:C5360|DOID:5044|UMLS:C1332845
MONDO:0003255	mediastinal granular cell myoblastoma	biolink:Disease	mondo	DOID:5046|NCIT:C6601|UMLS:C1334656		granular cell tumor of mediastinum|mediastinal granular cell neoplasm|mediastinum granular cell tumor|granular cell myoblastoma of the mediastinum|granular cell myoblastoma of mediastinum|granular cell tumor of the mediastinum|mediastinal granular cell tumor|mediastinal granular cell myoblastoma|granular cell neoplasm of the mediastinum|granular cell neoplasm of mediastinum	http://purl.obolibrary.org/obo/MONDO_0003255	An exceptionally rare, generally benign, granular cell tumor that arises from the mediastinum. All the reported cases were located in the posterior mediastinum.	NCIT:C6601|UMLS:C1334656|DOID:5046
MONDO:0003250	benign granular cell tumor	biolink:Disease	mondo	UMLS:C0027043|NCIT:C3252|DOID:5039		benign granular cell myoblastoma|benign granular cell tumor|granular cell tumor, benign|benign granular cell neoplasm|myoblastoma	http://purl.obolibrary.org/obo/MONDO_0003250	A granular cell tumor that is confined to the site of origin, without metastatic potential.	NCIT:C3252|UMLS:C0027043|DOID:5039
MONDO:0003251	esophageal granular cell tumor	biolink:Disease	mondo	UMLS:C1333448|DOID:5040|NCIT:C5700		esophageal granular cell tumor|esophageal granular cell myoblastoma|granular cell neoplasm of the esophagus|granular cell neoplasm of esophagus|granular cell esophagus tumor|granular cell esophageal tumor|granular cell esophagus myoblastoma|esophagus granular cell tumor|malignant granular cell esophageal tumor|granular cell esophagus neoplasm|granular cell tumor of esophagus|granular cell myoblastoma of the esophagus|esophageal granular cell neoplasm|granular cell tumor of the esophagus|granular cell myoblastoma of esophagus	http://purl.obolibrary.org/obo/MONDO_0003251	A tumor that usually presents with small nodules or small sessile polyps, predominantly in the distal esophagus. Histologically, it is composed of sheets of oval to polygonal cells with a small central nucleus and abundant granular cytoplasm. This is usually a benign tumor. (WHO, 2000) -- 2003	NCIT:C5700|UMLS:C1333448|DOID:5040
MONDO:0015227	non-syndromic limb malformation	biolink:Disease	mondo	Orphanet:109011	ordo_group_of_disorders	isolated limb malformation|nonsyndromic limb malformation	http://purl.obolibrary.org/obo/MONDO_0015227		ORPHA:109011
MONDO:0015226	syndrome with limb malformations as a major feature	biolink:Disease	mondo	Orphanet:109009|UMLS:CN197565|ICD10:Q87.2	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015226		ORPHA:109009|UMLS:CN197565
MONDO:0015225	arthrogryposis syndrome	biolink:Disease	mondo	Orphanet:109007|ICD10:Q68.8	ordo_group_of_disorders|clingen		http://purl.obolibrary.org/obo/MONDO_0015225		ORPHA:109007|UMLS:C0003886|MESH:D001176
MONDO:0015224	obsolete rare intoxication	biolink:Disease	mondo	UMLS:CN226640|Orphanet:108999	obsoletion_candidate|ordo_group_of_disorders	rare poisoning	http://purl.obolibrary.org/obo/MONDO_0015224	Any of the forms of poisoning that have a rare incidence.	ORPHA:108999|UMLS:CN226640
MONDO:0017886	MIT family translocation renal cell carcinoma	biolink:Disease	mondo	Orphanet:319308|ICD10:C64|SCTID:764694005|UMLS:C4518356	ordo_disease	translocation renal cell carcinoma|carcinoma associated with MITF/TFE translocation	http://purl.obolibrary.org/obo/MONDO_0017886	MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever.	SNOMEDCT:764694005|UMLS:C4518356|ORPHA:319308
MONDO:0017887	renal cell carcinoma associated with neuroblastoma	biolink:Disease	mondo	Orphanet:319314|ICD10:C64|UMLS:C3272295|NCIT:C100051	ordo_histopathological_subtype	renal cell cancer associated with neuroblastoma|renal cell carcinoma after neuroblastoma|renal cell carcinoma associated with neuroblastoma	http://purl.obolibrary.org/obo/MONDO_0017887	Renal cell carcinoma that develops in patients who are long-term survivors of childhood neuroblastoma.	NCIT:C100051|ORPHA:319314|UMLS:C3272295
MONDO:0015229	Bardet-Biedl syndrome	biolink:Disease	mondo	UMLS:C0752166|GARD:0006866|NCIT:C118632|OMIMPS:209900|MedDRA:10056715|ICD9:759.89|SCTID:5619004|DOID:1935|MESH:D020788|ICD10:Q87.8|Orphanet:110|ICD10:Q87.89	ordo_disease|clingen	Laurence-Moon-Biedl syndrome|BBS|Laurence-Moon syndrome|Laurence-Moon-Bardet-Biedl syndrome	http://purl.obolibrary.org/obo/MONDO_0015229	Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems	MEDDRA:10056715|DOID:1935|MESH:D020788|NCIT:C118632|UMLS:C0752166|ORPHA:110|SNOMEDCT:5619004
MONDO:0017888		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0017888		
MONDO:0015228	pentasomy X	biolink:Disease	mondo	Orphanet:11|NCIT:C89802|MESH:C535319|ICD10:Q97.1|UMLS:C0265497|SCTID:43248007|GARD:0005678	ordo_malformation_syndrome	penta-X|49,XXXXX syndrome|XXXXX syndrome|chromosome XXXXX syndrome|penta-X syndrome|chromosome X pentasomy|Pentasomy type X|poly-X|Pentasomy X syndrome|penta X syndrome|49, XXXXX syndrome	http://purl.obolibrary.org/obo/MONDO_0015228	Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX).	MESH:C535319|SNOMEDCT:43248007|ORPHA:11|NCIT:C89802|UMLS:C0265497
MONDO:0017889	obsolete mucinous tubular and spindle cell renal carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0017889		
MONDO:0017882	Omsk hemorrhagic fever	biolink:Disease	mondo	SCTID:48113006|DOID:992|MedDRA:10030310|MESH:D006481|GARD:0008254|Orphanet:319266|ICD9:065.1|UMLS:C0019103|ICD10:A98.1	gard_rare|ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017882	Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is a zoonotic disease characterized by fever, nausea, myalgia and moderately severe hemorrhagic manifestations as well as in some cases meningitis, pneumonia and nephrosis.	MEDDRA:10030310|ORPHA:319266|SNOMEDCT:48113006|DOID:992|UMLS:C0019103|MESH:D006481
MONDO:0017883	obsolete multilocular cystic clear cell renal cell neoplasm of low malignant potential	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0017883		
MONDO:0017884	papillary renal cell carcinoma	biolink:Disease	mondo	OMIM:605074|Orphanet:47044|SCTID:733608000|GARD:0009575|ICD10:C64|GARD:0009572|DOID:4465|Orphanet:319298|UMLS:CN205129|UMLS:C1336078|UMLS:C1306837|EFO:0000640|NCIT:C6975|ONCOTREE:PRCC	gard_rare|ordo_disease	papillary kidney carcinoma|RCCP|renal cell carcinoma, papillary, 1|papillary renal cell cancer|chromophil carcinoma of the kidney|renal adenocarcinoma|papillary renal cell carcinoma, multiple - (subtype)|renal cell carcinoma, papillary, type 1|papillary renal cell carcinoma, familial - (subtype)|papillary renal cell carcinoma, bilateral - (subtype)|papillary renal cell adenocarcinoma|chromophil carcinoma of kidney|papillary renal cell carcinoma, sporadic - (subtype)|chromophil renal cell carcinoma|renal cell carcinoma, papillary, 1; RCCP1|chromophil RCC|papillary renal cell carcinoma|papillary renal carcinoma, malignant - (subtype)|papillary (chromophil) renal cell carcinoma|RCCP1|sporadic papillary renal cell carcinoma|HPRCC	http://purl.obolibrary.org/obo/MONDO_0017884	Papillary renal cell carcinoma is a rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-DubC) syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma.	UMLS:CN205129|UMLS:C1336078|NCIT:C6975|ORPHA:47044|UMLS:C2931899|ORPHA:319298|UMLS:C1306837|MESH:C538614|DOID:4465|SNOMEDCT:733608000|http://identifiers.org/omim/605074
MONDO:0017885	chromophobe renal cell carcinoma	biolink:Disease	mondo	NCIT:C4146|SCTID:733471003|Orphanet:319303|ICDO:8270/3|ONCOTREE:CHRCC|UMLS:C3887514|ICDO:8317/3|GARD:0006064|ICD10:C64|EFO:0000335|UMLS:C1266042|DOID:4471	gard_rare|ordo_disease	chromophobe carcinoma of kidney|chromophobe renal cell adenocarcinoma|chromophobe cell carcinoma of kidney|chromophobe cell carcinoma of the kidney|chromophobe adenocarcinoma|kidney chromophobe|chromophobe renal cell cancer|chromophobe carcinoma of the kidney|ChRCC|chromophobe carcinoma|renal cell carcinoma, chromophobe cell|chromophobe renal cell carcinoma|CRCC|CHRCC|renal cell carcinoma, chromophobe type	http://purl.obolibrary.org/obo/MONDO_0017885	Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg DubC) syndrome, have been described.	SNOMEDCT:733471003|NCIT:C4146|ORPHA:319303|UMLS:C1266042|UMLS:C3887514|DOID:4471
MONDO:0015223	obsolete rare anemia	biolink:Disease	mondo	Orphanet:108997	ordo_group_of_disorders|obsoletion_candidate	rare anemia|rare anemia (disease)	http://purl.obolibrary.org/obo/MONDO_0015223	Rare anemia.	ORPHA:108997
GO:0034381	plasma lipoprotein particle clearance	biolink:OntologyClass	mondo			lipoprotein particle clearance	http://purl.obolibrary.org/obo/GO_0034381	The process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded.	
MONDO:0015222	syndromic respiratory or mediastinal malformation	biolink:Disease	mondo	Orphanet:108995|UMLS:CN226638	ordo_group_of_disorders	syndrome associated with respiratory or mediastinal malformation|syndromic respiratory or mediastinal malformation|syndrome associated with respiratory or mediastinal malformation	http://purl.obolibrary.org/obo/MONDO_0015222	A respiratory or mediastinal malformation that is part of a larger syndrome.	ORPHA:108995|UMLS:CN226638
MONDO:0017880	Rift valley fever	biolink:Disease	mondo	MESH:D012295|NCIT:C128419|ICD10:A92.4|DOID:1328|SCTID:402917003|UMLS:C0035613|Orphanet:319251|MedDRA:10039143	ordo_disease	RVF	http://purl.obolibrary.org/obo/MONDO_0017880	Rift Valley fever (RVF), caused by the Rift Valley fever virus (RVFV), is an arbovirus characterized by a usually self-limiting febrile illness but that in some cases can also manifest with thrombosis, vision loss, hemorrhages and/or neurological symptoms.	MEDDRA:10039143|UMLS:C0035613|DOID:1328|ORPHA:319251|MESH:D012295|SNOMEDCT:402917003|NCIT:C128419
MONDO:0015221	non-syndromic respiratory or mediastinal malformation	biolink:Disease	mondo	Orphanet:108993	ordo_group_of_disorders	isolated respiratory or mediastinal malformation|nonsyndromic respiratory or mediastinal malformation|isolated respiratory or mediastinal malformation	http://purl.obolibrary.org/obo/MONDO_0015221	A respiratory or mediastinal malformation that is not part of a larger syndrome.	ORPHA:108993
MONDO:0015220	syndrome with a central nervous system malformation as major feature	biolink:Disease	mondo	Orphanet:108991|UMLS:CN197562	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015220		UMLS:CN197562|ORPHA:108991
MONDO:0017881	Kyasanur forest disease	biolink:Disease	mondo	UMLS:C0022810|GARD:0008257|DOID:11320|SCTID:23097003|Orphanet:319254|ICD9:065.2|MESH:D007733|ICD10:A98.2|MedDRA:10023505	gard_rare|ordo_disease	Kyasanur forest disease virus infectious disease|monkey disease|Kyasanur forest disease virus caused disease or disorder|KFD virus|Kyasanur forest disease virus disease or disorder|monkey fever|Kyasanur hemorrhagic fever|KFD	http://purl.obolibrary.org/obo/MONDO_0017881	Kyasanura forest disease (KFD), caused by the KFD virus, is an arbovirus characterized by an initial fever, headache and myalgia that can progress to a hemorrhagic disease and that in some cases is followed by a second phase characterized by neurological manifestations.	DOID:11320|UMLS:C0022810|ORPHA:319254|SNOMEDCT:23097003|MEDDRA:10023505|MESH:D007733
HGNC:17772	TXN2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17772		
GO:0071375	cellular response to peptide hormone stimulus	biolink:OntologyClass	mondo			cellular response to polypeptide hormone stimulus	http://purl.obolibrary.org/obo/GO_0071375	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals.	
MONDO:0054813	ehlers-danlos syndrome, classic-like, 2	biolink:Disease	mondo	Orphanet:536532|UMLS:CN248508|OMIM:618000	ordo_disease	Ehlers-Danlos syndrome, classic-like, 2; EDSCLL2|EDSCLL2	http://purl.obolibrary.org/obo/MONDO_0054813		ORPHA:536532|http://identifiers.org/omim/618000|UMLS:CN248508
MONDO:0030846	spermatogenic failure 48	biolink:Disease	mondo	OMIM:619108		spermatogenic failure 48; SPGF48|SPGF48	http://purl.obolibrary.org/obo/MONDO_0030846		http://identifiers.org/omim/619108
HGNC:30718	DNAJB13	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30718		
MONDO:0030847	arthrogryposis, distal, type 1C	biolink:Disease	mondo	OMIM:619110		arthrogryposis, distal, type 1C; DA1C|DA1C	http://purl.obolibrary.org/obo/MONDO_0030847		http://identifiers.org/omim/619110
MONDO:0054817	leukodystrophy, hypomyelinating, 17	biolink:Disease	mondo	OMIM:618006|UMLS:CN248514		HLD17|leukodystrophy, hypomyelinating, 17; HLD17	http://purl.obolibrary.org/obo/MONDO_0054817		UMLS:CN248514|http://identifiers.org/omim/618006
MONDO:0015292	endotheliitis	biolink:Disease	mondo	Orphanet:137602	ordo_disease	endothelium inflammation|inflammation of endothelium	http://purl.obolibrary.org/obo/MONDO_0015292	An inflammatory disease involving a pathogenic inflammatory response in the endothelium.	ORPHA:137602
MONDO:0015291	stromal keratitis	biolink:Disease	mondo	Orphanet:137599|UMLS:C1318020|ICD10:H16.3	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015291	Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases.	UMLS:C1318020|ORPHA:137599
MONDO:0030841	mismatch repair cancer syndrome 3	biolink:Disease	mondo	OMIM:619097		MMRCS3|mismatch repair cancer syndrome 3	http://purl.obolibrary.org/obo/MONDO_0030841		http://identifiers.org/omim/619097
MONDO:0015290	neurotrophic keratopathy	biolink:Disease	mondo	UMLS:C0339296|Orphanet:137596|MedDRA:10069732|ICD10:H16.2|SCTID:128080005	ordo_disease	neurotrophic keratitis	http://purl.obolibrary.org/obo/MONDO_0015290	Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision.	MEDDRA:10069732|ORPHA:137596|SNOMEDCT:128080005|UMLS:C0339296
MONDO:0030844	spermatogenic failure 47	biolink:Disease	mondo	OMIM:619102		SPGF47|spermatogenic failure 47; SPGF47	http://purl.obolibrary.org/obo/MONDO_0030844		http://identifiers.org/omim/619102
MONDO:0030843	mismatch repair cancer syndrome 4	biolink:Disease	mondo	OMIM:619101		mismatch repair cancer syndrome 4|MMRCS4	http://purl.obolibrary.org/obo/MONDO_0030843		http://identifiers.org/omim/619101
NCBITaxon:32008	Burkholderia	organism taxon	mondo	PMID:25566316|PMID:1283774|PMID:10555347|GC_ID:11		Pseudomonas RNA homology group II	http://purl.obolibrary.org/obo/NCBITaxon_32008		
HGNC:17748	DACT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17748		
MONDO:0015296	cardiac anomalies-heterotaxy syndrome	biolink:Disease	mondo	ICD10:Q28.8|Orphanet:137628|UMLS:CN199246	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0015296	Cardiac anomalies-heterotaxy syndrome is characterised by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported.	UMLS:CN199246|ORPHA:137628
MONDO:0015295	intractable diarrhea-choanal atresia-eye anomalies syndrome	biolink:Disease	mondo	UMLS:CN226653|ICD10:Q87.8|Orphanet:137622	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0015295	Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterised by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously.	ORPHA:137622|UMLS:CN226653
MONDO:0015294	nephrogenic systemic fibrosis	biolink:Disease	mondo	ICD9:588.89|GARD:0009725|MESH:D054989|NCIT:C84920|EFO:1001814|UMLS:C1619692|MedDRA:10067467|Orphanet:137617|UMLS:C3888044|SCTID:424114000	ordo_disease|gard_rare	nephrogenic fibrosing dermopathy|NSF|NFD	http://purl.obolibrary.org/obo/MONDO_0015294	Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease.	SNOMEDCT:424114000|MESH:D054989|NCIT:C84920|MEDDRA:10067467|UMLS:C1619692|UMLS:C3888044|ORPHA:137617
MONDO:0015293	segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	biolink:Disease	mondo	UMLS:CN199243|SCTID:763867001|Orphanet:137608	ordo_malformation_syndrome	SOLAMEN syndrome	http://purl.obolibrary.org/obo/MONDO_0015293	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer.	UMLS:CN199243|SNOMEDCT:763867001|ORPHA:137608
MONDO:0015299	Asherman syndrome	biolink:Disease	mondo	ICD10:N85.6|MedDRA:10053868|GARD:0005853|Orphanet:137686|SCTID:48236007|MedDRA:10022821|UMLS:C0156372	ordo_disease|gard_rare	intrauterine synechiae|Asherman syndrome|uterine synechiae|Asherman's syndrome|intrauterine adhesions	http://purl.obolibrary.org/obo/MONDO_0015299		MEDDRA:10053868|MEDDRA:10022821|UMLS:C0156372|UMLS:C1704274|SNOMEDCT:48236007|ORPHA:137686
NCBITaxon:32003	Nitrosomonadales	organism taxon	mondo	PMID:25701846|PMID:28581923|GC_ID:11|PMID:25017294|PMID:10028253|PMID:11760943|PMID:16403855		Ammonia oxidizing bacteria|Ammonia-oxidizing bacteria	http://purl.obolibrary.org/obo/NCBITaxon_32003		
MONDO:0015298	pellucid marginal degeneration	biolink:Disease	mondo	GARD:0011895|UMLS:CN199253|ICD10:H18.7|Orphanet:137672	gard_rare|ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015298		UMLS:CN199253|ORPHA:137672
MONDO:0015297	obsolete microcephaly-digital anomalies-intellectual disability syndrome	biolink:Disease	mondo	ICD10:Q87.8|Orphanet:137653|UMLS:CN199250		Kelly-Kirson-Wyatt syndrome	http://purl.obolibrary.org/obo/MONDO_0015297		UMLS:CN199250|ORPHA:137653
MONDO:0054802	erythrocytosis, familial, 7	biolink:Disease	mondo	DOID:0111631|OMIM:617981|UMLS:CN244942		erythrocytosis, Alpha-globin type|erythrocytosis, FAMILIAL, 7; ECYT7|polycythemia, Alpha-globin type|ECYT7	http://purl.obolibrary.org/obo/MONDO_0054802		http://identifiers.org/omim/617981|UMLS:CN244942|DOID:0111631
GO:0071396	cellular response to lipid	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0071396	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus.	
MONDO:0054801	erythrocytosis, familial, 6	biolink:Disease	mondo	DOID:0111632|OMIM:617980|UMLS:CN244941		polycythemia, Beta-globin type|erythrocytosis, FAMILIAL, 6; ECYT6|erythrocytosis, Beta-globin type|ECYT6	http://purl.obolibrary.org/obo/MONDO_0054801		http://identifiers.org/omim/617980|UMLS:CN244941|DOID:0111632
MONDO:0030856	developmental and epileptic encephalopathy 89	biolink:Disease	mondo	OMIM:619124		developmental and epileptic encephalopathy 89|DEE89	http://purl.obolibrary.org/obo/MONDO_0030856		http://identifiers.org/omim/619124
MONDO:0030858	immunodeficiency 75	biolink:Disease	mondo	OMIM:619126		IMD75|immunodeficiency 75	http://purl.obolibrary.org/obo/MONDO_0030858		http://identifiers.org/omim/619126
MONDO:0054806	microcephaly 23, primary, autosomal recessive	biolink:Disease	mondo	OMIM:617985|UMLS:CN244932		microcephaly 23, PRIMARY, autosomal recessive; MCPH23|MCPH23	http://purl.obolibrary.org/obo/MONDO_0054806		http://identifiers.org/omim/617985|UMLS:CN244932
MONDO:0015281	atrial standstill	biolink:Disease	mondo	SCTID:450919004|ICD9:426.6|Orphanet:1344|UMLS:CN199216|DC:0000699|ICD10:I45.5	ordo_disease	atrial cardiomyopathy with heart block	http://purl.obolibrary.org/obo/MONDO_0015281	Atrial standstill is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves.	SNOMEDCT:450919004|UMLS:CN199216|ORPHA:1344
MONDO:0015280	cardiofaciocutaneous syndrome	biolink:Disease	mondo	SCTID:403770008|DOID:0060233|Orphanet:1340|GARD:0009146|OMIMPS:115150|UMLS:C1275081|MESH:C535579|NCIT:C84617|ICD10:Q87.8	ordo_malformation_syndrome|clingen	CFC|CFC syndrome|congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure|cardiofaciocutaneous (CFC) syndrome|cardio-facial-cutaneous syndrome|cardio-facio-cutaneous syndrome	http://purl.obolibrary.org/obo/MONDO_0015280	Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.	SNOMEDCT:403770008|MESH:C535579|UMLS:C1275081|DOID:0060233|NCIT:C84617|ORPHA:1340
MONDO:0054805	microcephaly 22, primary, autosomal recessive	biolink:Disease	mondo	OMIM:617984		microcephaly 22, PRIMARY, autosomal recessive; MCPH22|MCPH22	http://purl.obolibrary.org/obo/MONDO_0054805		http://identifiers.org/omim/617984
MONDO:0054804	microcephaly 21, primary, autosomal recessive	biolink:Disease	mondo	OMIM:617983|UMLS:CN244930		microcephaly 21, PRIMARY, autosomal recessive; MCPH21|MCPH21	http://purl.obolibrary.org/obo/MONDO_0054804		http://identifiers.org/omim/617983|UMLS:CN244930
MONDO:0030855	combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2	biolink:Disease	mondo	OMIM:619120		combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2|OIEDS Syndrome 2|OIEDS2	http://purl.obolibrary.org/obo/MONDO_0030855		http://identifiers.org/omim/619120
MONDO:0030854	combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1	biolink:Disease	mondo	OMIM:619115		combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1|OIEDS1|OIEDS Syndrome 1	http://purl.obolibrary.org/obo/MONDO_0030854		http://identifiers.org/omim/619115
HGNC:17759	PDSS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17759		
MONDO:0015285	Carney complex	biolink:Disease	mondo	Orphanet:1359|SCTID:733491005|ICD10:D44.8|NCIT:C4705|GARD:0001119|DOID:0050471|MESH:D056733|UMLS:C0406810	ordo_disease	CNC|Myxoma-spotty pigmentation-endocrine overactivity syndrome|Carney complex variant|lentigines, atrial myxoma, mucocutaneous myoma, blue Nevus syndrome|atrial myxoma with lentigines|lamb|nevi, atrial myxoma, skin myxoma, ephelides syndrome|lamb syndrome|NAME syndrome|Carney's syndrome|Carney Complex, type 2|Myxoma - spotty pigmentation - endocrine overactivity|Carney Complex, type 1|Carney syndrome	http://purl.obolibrary.org/obo/MONDO_0015285	Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas.	MESH:D056733|SNOMEDCT:733491005|ORPHA:1359|UMLS:C0406810|DOID:0050471|NCIT:C4705|UMLS:C2607929
MONDO:0015284	heart-hand syndrome type 2	biolink:Disease	mondo	UMLS:C2931323|GARD:0009847|MESH:C536784|ICD10:Q87.2|Orphanet:1350|SCTID:721010003	ordo_malformation_syndrome	atriodigital dysplasia type 2|heart-hand syndrome 2|Tabatznik syndrome	http://purl.obolibrary.org/obo/MONDO_0015284	Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation).	ORPHA:1350|MESH:C536784|UMLS:C2931323|SNOMEDCT:721010003
MONDO:0015283	maternally-inherited cardiomyopathy and hearing loss	biolink:Disease	mondo	ICD10:I42.8|UMLS:CN199218|Orphanet:1349	ordo_malformation_syndrome	maternally-inherited cardiomyopathy and deafness|tRNA-LYS-related cardiomyopathy-hearing loss syndrome	http://purl.obolibrary.org/obo/MONDO_0015283	Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.	ORPHA:1349|UMLS:CN199218
HGNC:17755	TNFRSF13C	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17755		
MONDO:0015282	cardiomyopathy-cataract-hip spine disease syndrome	biolink:Disease	mondo	GARD:0001102|UMLS:C2931548|SCTID:720609003|Orphanet:1345|MESH:C537616	gard_rare|ordo_disease	Krasnow-Qazi syndrome|cardiomyopathy cataract hip spine disease|familial dilated cardiomyopathy associated with cataracts and hip-spine disease|Krasnow Qazi syndrome|Krasnow Qazi Yermakov syndrome	http://purl.obolibrary.org/obo/MONDO_0015282	Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985.	ORPHA:1345|MESH:C537616|SNOMEDCT:720609003|UMLS:C2931548
MONDO:0030861	osteogenesis imperfecta, type 21	biolink:Disease	mondo	OMIM:619131		OI21|osteogenesis imperfecta, TYPE XXI	http://purl.obolibrary.org/obo/MONDO_0030861		http://identifiers.org/omim/619131
MONDO:0015289	infectious epithelial keratitis	biolink:Disease	mondo	Orphanet:137593	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015289	Infectious epithelial keratitis is a rare, potentially sight-threatening, acquired ocular disease chracterized by corneal epithelium inflammation resulting from viral (mainly Herpes Simplex virus), bacterial, fungic or protist infection, manifesting with variable symptoms, such as conjunctival hyperemia, lacrimation, rapid onset of pain, blurred vision and/or photophobia, depending on the causative agent.	ORPHA:137593
MONDO:0015288	herpes simplex virus keratitis	biolink:Disease	mondo	ICD10:B00.5+|DOID:0080158|EFO:0007308|UMLS:C0022570|UMLS:C0019357|Orphanet:137586|SCTID:9389005|ICD10:H19.1*|NCIT:C34743	ordo_group_of_disorders	Simplexvirus caused keratitis|HSV keratitis|dendritic keratitis|Simplexvirus keratitis|herpetic keratitis	http://purl.obolibrary.org/obo/MONDO_0015288	A superficial, epithelial Herpesvirus hominis infection of the cornea, characterized by the presence of small vesicles which may break down and coalesce to form dendritic ulcers (keratitis, dendritic). (Dictionary of Visual Science, 3d ed)	ORPHA:137586|DOID:0080158|NCIT:C34743|UMLS:C0019357|SNOMEDCT:9389005|UMLS:C0022570
MONDO:0015287	obsolete vulvar intraepithelial neoplasia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015287		
MONDO:0015286	congenital disorder of glycosylation	biolink:Disease	mondo	OMIMPS:212065|NCIT:C84615|Orphanet:137|MESH:D018981|UMLS:C0282577|GARD:0010307|SCTID:238049009|DOID:5212|ICD9:271.8|ICD10:E77.8	ordo_group_of_disorders|clingen	CDG|carbohydrate deficient glycoprotein syndrome|congenital disorders of glycosylation|carbohydrate-deficient glycoprotein syndromes|carbohydrate-deficient glycoprotein syndrome	http://purl.obolibrary.org/obo/MONDO_0015286	Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation.	DOID:5212|ORPHA:137|UMLS:C0282577|SNOMEDCT:238049009|MESH:D018981|NCIT:C84615
MONDO:0030868	spermatogenic failure 49	biolink:Disease	mondo	OMIM:619144		SPGF49|spermatogenic failure 49	http://purl.obolibrary.org/obo/MONDO_0030868		http://identifiers.org/omim/619144
MONDO:0054835	parkinsonism-dystonia, infantile, 1	biolink:Disease	mondo	OMIM:613135		dopamine transporter deficiency syndrome|PKDYS|Parkinsonism-dystonia, infantile, 1; PKDYS1|PKDYS1	http://purl.obolibrary.org/obo/MONDO_0054835		http://identifiers.org/omim/613135
MONDO:0030867	thrombocytopenia 7	biolink:Disease	mondo	OMIM:619130		thrombocytopenia 7|Thrombocytopenia, Autosomal Dominant, 7|THC7	http://purl.obolibrary.org/obo/MONDO_0030867		http://identifiers.org/omim/619130
MONDO:0054833	charcot-marie-tooth disease, axonal, type 2DD	biolink:Disease	mondo	OMIM:618036|Orphanet:521414|DOID:0111558|UMLS:CN248781	ordo_disease	Charcot-Marie-tooth disease, axonal, type 2DD; CMT2DD|Charcot-Marie-Tooth neuropathy, type 2Dd|CMT2DD	http://purl.obolibrary.org/obo/MONDO_0054833		ORPHA:521414|http://identifiers.org/omim/618036|DOID:0111558|UMLS:CN248781
MONDO:0030869	spermatogenic failures 50	biolink:Disease	mondo	OMIM:619145		spermatogenic failures 50|SPGF50	http://purl.obolibrary.org/obo/MONDO_0030869		http://identifiers.org/omim/619145
MONDO:0054832	corneal dystrophy, posterior polymorphous, 4	biolink:Disease	mondo	OMIM:618031|UMLS:CN248531		PPCD4|corneal dystrophy, POSTERIOR polymorphous, 4; PPCD4	http://purl.obolibrary.org/obo/MONDO_0054832		http://identifiers.org/omim/618031|UMLS:CN248531
MONDO:0015270	butyrylcholinesterase deficiency	biolink:Disease	mondo	OMIM:617936|ICD9:289.89|SCTID:191397007|Orphanet:132|UMLS:C1283400|GARD:0007482|MESH:C537417	ordo_disease	Acholinesterasemia|butyrylcholinesterase deficiency; BCHED|Suxamethonium sensitivity|hypocholinesterasemia, fluoride-resistant, Japanese type|apnea, postanesthetic|pseudocholinesterase E1|pseudocholinesterase deficiency|butyrylcholinesterase deficiency, fluoride-resistant, Japanese type|succinylcholine sensitivity|cholinesterase 2 deficiency|BCHED	http://purl.obolibrary.org/obo/MONDO_0015270	Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterised by prolonged apnoea after the use of certain anaesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anaesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency.	MESH:C537417|ORPHA:132|UMLS:C1283400|http://identifiers.org/omim/617936|SNOMEDCT:191397007
MONDO:0003289	deep leiomyoma	biolink:Disease	mondo	NCIT:C6512|DOID:5128|UMLS:C1333266		deep leiomyoma	http://purl.obolibrary.org/obo/MONDO_0003289	A rare benign smooth muscle neoplasm arising from deep tissue. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	UMLS:C1333266|DOID:5128|NCIT:C6512
MONDO:0030864	Ritscher-Schinzel syndrome 3	biolink:Disease	mondo	OMIM:619135		Ritscher-Schinzel syndrome 3|RTSC3	http://purl.obolibrary.org/obo/MONDO_0030864		http://identifiers.org/omim/619135
MONDO:0054838	cardiomyopathy, familial hypertrophic 27	biolink:Disease	mondo	UMLS:CN252335|OMIM:618052		CMH27|cardiomyopathy, FAMILIAL hypertrophic 27; CMH27	http://purl.obolibrary.org/obo/MONDO_0054838		http://identifiers.org/omim/618052|UMLS:CN252335
MONDO:0054837	mental retardation, autosomal dominant 57	biolink:Disease	mondo	UMLS:CN252334|OMIM:618050		intellectual disability, autosomal dominant 57; MRD57|mental retardation, autosomal dominant 57; MRD57|MRD57	http://purl.obolibrary.org/obo/MONDO_0054837		http://identifiers.org/omim/618050|UMLS:CN252334
MONDO:0054836	parkinsonism-dystonia, infantile, 2	biolink:Disease	mondo	UMLS:CN248785|OMIM:618049		PKDYS2|Parkinsonism-dystonia, infantile, 2; PKDYS2	http://purl.obolibrary.org/obo/MONDO_0054836		http://identifiers.org/omim/618049|UMLS:CN248785
MONDO:0003285	fallopian tube leiomyoma	biolink:Disease	mondo	NCIT:C40127|UMLS:C1517115|DOID:5124		leiomyoma of fallopian tube|fallopian tube leiomyoma	http://purl.obolibrary.org/obo/MONDO_0003285	A benign smooth muscle neoplasm arising from the fallopian tube. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	NCIT:C40127|DOID:5124|UMLS:C1517115
MONDO:0003286	extrahepatic bile duct leiomyoma	biolink:Disease	mondo	UMLS:C1333507|DOID:5125|NCIT:C5855		leiomyoma of the extrahepatic bile duct|leiomyoma of extrahepatic bile duct|extrahepatic bile duct leiomyoma	http://purl.obolibrary.org/obo/MONDO_0003286	A benign smooth muscle neoplasm arising from an extrahepatic bile duct. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	UMLS:C1333507|DOID:5125|NCIT:C5855
MONDO:0003287	central nervous system leiomyoma	biolink:Disease	mondo	UMLS:C1334382|DOID:5126|NCIT:C6998		leiomyoma of central nervous system|leiomyoma of the central nervous system|leiomyoma of the CNS|central nervous system leiomyoma|leiomyoma of CNS	http://purl.obolibrary.org/obo/MONDO_0003287	A benign smooth muscle neoplasm arising from the central nervous system. It is characterized by the presence of intersecting fascicles composed of spindle cells that often lack mitotic activity.	UMLS:C1334382|DOID:5126|NCIT:C6998
MONDO:0003288	bizarre leiomyoma	biolink:Disease	mondo	NCIT:C4257|DOID:5127|UMLS:C0334478|ICDO:8893/0		pleomorphic leiomyoma|atypical leiomyoma|Symplastic leiomyoma|bizarre leiomyoma	http://purl.obolibrary.org/obo/MONDO_0003288	A morphologic variant of leiomyoma characterized by the presence of pleomorphic muscle cells with bizarre hyperchromatic nuclei and eosinophilic cytoplasm.	UMLS:C0334478|DOID:5127|NCIT:C4257
MONDO:0003281	ovarian cystic teratoma	biolink:Disease	mondo	DOID:5118|NCIT:C7283|UMLS:C1335155		ovary cystic teratoma	http://purl.obolibrary.org/obo/MONDO_0003281	A teratoma that arises from the ovary and is characterized by the presence of cystic structures. Representative example is the dermoid cyst.	DOID:5118|NCIT:C7283|UMLS:C1335155
MONDO:0003282	ovarian cyst (disease)	biolink:Disease	mondo	DOID:5119|HP:0000138|ICD9:620.2|ICD10:N83.2|MESH:D010048|SCTID:79883001		cyst, ovarian|cyst, corpus luteum|cysts, ovarian|corpus luteum cyst|cysts, corpus luteum|ovarian cyst|corpus luteum cysts	http://purl.obolibrary.org/obo/MONDO_0003282		SNOMEDCT:79883001|DOID:5119|MESH:D010048
MONDO:0003283	epididymal neoplasm	biolink:Disease	mondo	SCTID:126902008|ICD9:239.5|NCIT:C39958|UMLS:C0346239|DOID:512		neoplasm of epididymus|neoplasm of epididymis|epididymis neoplasm (disease)|epididymis tumor|epididymal neoplasm|tumor of epididymis|epididymis neoplasm	http://purl.obolibrary.org/obo/MONDO_0003283	A benign or malignant neoplasm that affects the epididymis. Representative examples include epididymal adenomatoid tumor and epididymal adenocarcinoma.	DOID:512|SNOMEDCT:126902008|NCIT:C39958|UMLS:C0346239
MONDO:0003284	mediastinum leiomyoma	biolink:Disease	mondo	NCIT:C6598|DOID:5123|UMLS:C1334659		mediastinum leiomyoma|leiomyoma of the mediastinum|mediastinal leiomyoma|leiomyoma of mediastinum	http://purl.obolibrary.org/obo/MONDO_0003284	A benign smooth muscle neoplasm arising from the mediastium. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	UMLS:C1334659|DOID:5123|NCIT:C6598
MONDO:0003280	swayback	biolink:Disease	mondo	MESH:D013540|SCTID:61960001|DOID:5112		swayback of sheep	http://purl.obolibrary.org/obo/MONDO_0003280	Congenital locomotor ataxia of lambs, thought to be associated with copper deficiency. It is characterized clinically by progressive incoordination of the hind limbs and pathologically by disruption of neuron and myelin development in the central nervous system. It is caused by a deficiency of metabolizable copper in the ewe during the last half of her pregnancy. (Dorland, 28th ed; Stedman, 26th ed)	DOID:5112|MESH:D013540|SNOMEDCT:61960001
MONDO:0015279	chronic mucocutaneous candidiasis (disease)	biolink:Disease	mondo	SCTID:234568006|Orphanet:1334|HP:0002728|MedDRA:10009007|DOID:2058|UMLS:C0006845|ICD10:B37.2|OMIMPS:114580|MESH:D002178|NCIT:C34444	ordo_disease	familial CMC|familial chronic mucocutaneous candidiasis|chronic mucocutaneous candidiasis|CANDF|familial candidiasis|CMC	http://purl.obolibrary.org/obo/MONDO_0015279		MESH:D002178|SNOMEDCT:234568006|ORPHA:1334|NCIT:C34444|DOID:2058|MEDDRA:10009007|UMLS:C0006845
MONDO:0015274	chronic beryllium disease	biolink:Disease	mondo	MESH:D001607|ICD10:J63.2|MedDRA:10004485|GARD:0000867|EFO:0007168|DOID:10322|Orphanet:133|ICD9:503|SCTID:18121009	ordo_disease	reversible berylliosis|Subacute berylliosis|acute berylliosis|chronic pulmonary berylliosis|beryllium poisoning|berylliosis|Beryllliosis|chronic berylliosis|beryllium disease|chronic beryllium lung disease	http://purl.obolibrary.org/obo/MONDO_0015274	Chronic beryllium disease (CBD) is a granulomatous, interstitial lung disease that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea.	MESH:D001607|ORPHA:133|UMLS:C0221052|MEDDRA:10004485|DOID:10322|SNOMEDCT:18121009
MONDO:0015273	complete atrioventricular canal	biolink:Disease	mondo	SCTID:360481003|ICD10:Q21.2|MESH:C535974|ICD9:745.69|GARD:0001454|Orphanet:1329	gard_rare|ordo_morphological_anomaly	CAVC|common atrioventricular canal|complete atrioventricular septal defect	http://purl.obolibrary.org/obo/MONDO_0015273	Complete atrioventricular canal (CAVC), also referred to as complete atrioventricular septal defect, is characterized by an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the ventricular septum inflow.	SNOMEDCT:360481003|ORPHA:1329|UMLS:C0344787|UMLS:C0221215|MESH:C535974
MONDO:0030870	premature ovarian failure 17	biolink:Disease	mondo	OMIM:619146		premature ovarian failure 17|POF17	http://purl.obolibrary.org/obo/MONDO_0030870		http://identifiers.org/omim/619146
MONDO:0015272	camptodactyly-taurinuria syndrome	biolink:Disease	mondo	Orphanet:1325|UMLS:C2931681|MESH:C537972|GARD:0001069|SCTID:733466005|ICD10:Q68.1	ordo_malformation_syndrome|gard_rare	camptodactyly with taurinuria|camptodactyly taurinuria|familial streblodactyly with amino-aciduria	http://purl.obolibrary.org/obo/MONDO_0015272	Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.	ORPHA:1325|MESH:C537972|SNOMEDCT:733466005|UMLS:C2931681
MONDO:0015271	idiopathic camptocormia	biolink:Disease	mondo	SCTID:13534001|ICD10:M43.8|Orphanet:1320|GARD:0001063|MESH:C537968|MedDRA:10069646	ordo_morphological_anomaly	camptocormism|idiopathic progressive lumbar kyphosis|idiopathic camptocormism|bent spine|camptocormia|bent spine syndrome	http://purl.obolibrary.org/obo/MONDO_0015271	Idiopathic camptocormia is a postural disease characterized by an anterior flexion of the torso (during walking or standing) that resolves in the supine position and that is caused by weakness of the lumbar paraspinal muscles (spinal extensors), due to massive fatty infiltrations of posterior spinal muscles, without an identifiable etiology.	SNOMEDCT:13534001|ORPHA:1320|UMLS:C0264162|MESH:C537968|MEDDRA:10069646
MONDO:0030872	frontotemporal dementia and/or amyotrophic lateral sclerosis 8	biolink:Disease	mondo	OMIM:619132		frontotemporal dementia and/or amyotrophic lateral sclerosis 8|FTDALS8	http://purl.obolibrary.org/obo/MONDO_0030872		http://identifiers.org/omim/619132
MONDO:0015278	familial pancreatic carcinoma	biolink:Disease	mondo	ICD10:C25|GARD:0004206|NCIT:C43298|Orphanet:1333|OMIM:260350|SCTID:715414009|UMLS:C2931038|MESH:C535837	ordo_disease|clingen	hereditary pancreatic carcinoma|pancreatic acinar carcinoma|familial pancreatic carcinoma|hereditary pancreatic cancer|hereditary exocrine pancreatic carcinoma|familial pancreatic cancer	http://purl.obolibrary.org/obo/MONDO_0015278	Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives.	SNOMEDCT:715414009|ORPHA:1333|http://identifiers.org/omim/260350|MESH:C535837|NCIT:C43298|UMLS:C2931038
MONDO:0054842	polycystic kidney disease 6 with or without polycystic liver disease	biolink:Disease	mondo	OMIM:618061|UMLS:CN252647		polycystic kidney disease caused by mutation in DNAJB11|polycystic kidney disease 6 with or without polycystic liver disease; PKD6|DNAJB11 polycystic kidney disease|PKD6	http://purl.obolibrary.org/obo/MONDO_0054842	Any polycystic kidney disease in which the cause of the disease is a mutation in the DNAJB11 gene.	http://identifiers.org/omim/618061|UMLS:CN252647
NCBITaxon:2497569	Negarnaviricota	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2497569		
MONDO:0015277	medullary thyroid gland carcinoma	biolink:Disease	mondo	ICD10:C73|DOID:3973|MedDRA:10027101|NCIT:C3879|Orphanet:1332|SCTID:255032005|UMLS:C0238462|HP:0002865|UMLS:C0206693|GARD:0007004|ONCOTREE:THME	ordo_disease	medullary thyroid cancer|thyroid gland medullary cancer|thyroid gland neuroendocrine carcinoma|C cell carcinoma|parafollicular cell carcinoma|medullary carcinoma|medullary thyroid gland carcinoma|THME|thyroid carcinoma, medullary|carcinoma, C-cell, malignant|thyroid gland medullary carcinoma|thyroid medullary carcinoma|ultimobranchial thyroid tumor|medullary carcinoma of the thyroid gland|ultimobranchial thyroid tumour|carcinoma of parafollicular cell|medullary carcinoma of thyroid gland|medullary carcinoma of the thyroid|MTC|medullary thyroid cancer (MTC)|medullary carcinoma of thyroid|medullary thyroid carcinoma|thyroid cancer, medullary	http://purl.obolibrary.org/obo/MONDO_0015277	A neuroendocrine carcinoma arising from the C-cells of the thyroid gland. It is closely associated with multiple endocrine neoplasia syndromes. Approximately 10% to 20% of medullary thyroid carcinomas are familial. Patients usually present with a thyroid nodule that is painless and firm. In the majority of cases nodal involvement is present at diagnosis. Surgery is the preferred treatment for both primary lesions and recurrences. This carcinoma is generally not very sensitive to radiation and almost unresponsive to chemotherapy.	UMLS:C0238462|NCIT:C3879|ORPHA:1332|UMLS:C0206693|MESH:C536914|SNOMEDCT:255032005|MEDDRA:10027101|DOID:3973
MONDO:0015276	obsolete prostate cancer	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015276		
MONDO:0015275	partial atrioventricular canal	biolink:Disease	mondo	GARD:0004229|MESH:C536112|ICD10:Q21.2|SCTID:718216009|Orphanet:1330	ordo_morphological_anomaly|gard_rare	partial common atrioventricular canal|partial atrioventricular septal defects|partial atrioventricular canal defect|partial AVSD|PAVC	http://purl.obolibrary.org/obo/MONDO_0015275	Partial atrioventricular canal (PAVC) is a congenital heart malformation characterized by an atrial septal defect (ASD; ostium primum), clefts of mitral and occasionally tricuspid valves, two separate atrioventricular (AV) valve annuli and an intact ventricular septum. The typical symptoms of PAVC are impaired exercise capacity and exertional dyspnea.	SNOMEDCT:718216009|ORPHA:1330|UMLS:C0344735|MESH:C536112
MONDO:0030875	frontotemporal dementia and/or amyotrophic lateral sclerosis 5	biolink:Disease	mondo	OMIM:619141		FTDALS5|frontotemporal dementia and/or amyotrophic lateral sclerosis 5	http://purl.obolibrary.org/obo/MONDO_0030875		http://identifiers.org/omim/619141
NCBITaxon:2497571	Polyploviricotina	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2497571		
MONDO:0030877	cardioacrofacial dysplasia 2	biolink:Disease	mondo	OMIM:619143		cardioacrofacial dysplasia 2|CAFD2	http://purl.obolibrary.org/obo/MONDO_0030877		http://identifiers.org/omim/619143
NCBITaxon:2497570	Haploviricotina	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2497570		
MONDO:0030876	cardioacrofacial dysplasia 1	biolink:Disease	mondo	OMIM:619142		cardioacrofacial dysplasia 1|CAFD1	http://purl.obolibrary.org/obo/MONDO_0030876		http://identifiers.org/omim/619142
MONDO:0003296	cellular leiomyoma	biolink:Disease	mondo	DOID:5139|UMLS:C0334477|ICDO:8892/0|NCIT:C4256		cellular leiomyoma (morphologic abnormality)|cellular leiomyoma	http://purl.obolibrary.org/obo/MONDO_0003296	A morphologic variant of classic leiomyoma characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern.	DOID:5139|NCIT:C4256|UMLS:C0334477
MONDO:0003297	gallbladder leiomyoma	biolink:Disease	mondo	NCIT:C5747|UMLS:C1333745|DOID:5140		leiomyoma of the gallbladder|leiomyoma of gall bladder|leiomyoma of gallbladder|gall bladder leiomyoma|gallbladder leiomyoma	http://purl.obolibrary.org/obo/MONDO_0003297	A benign smooth muscle neoplasm arising from the gallbladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOID:5140|UMLS:C1333745|NCIT:C5747
MONDO:0003298	vulvar leiomyoma	biolink:Disease	mondo	DOID:5142|NCIT:C40326|UMLS:C1520087		vulvar leiomyoma|leiomyoma of mammalian vulva|mammalian vulva leiomyoma	http://purl.obolibrary.org/obo/MONDO_0003298	A benign smooth muscle neoplasm arising from the vulva. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	NCIT:C40326|DOID:5142|UMLS:C1520087
MONDO:0003299	colorectal leiomyoma	biolink:Disease	mondo	UMLS:C1333113|NCIT:C5677|DOID:5143		leiomyoma of the large bowel|leiomyoma of large bowel|leiomyoma of large intestine|colorectal leiomyoma|leiomyoma of the large intestine|large bowel leiomyoma|large intestine leiomyoma|colorectum leiomyoma	http://purl.obolibrary.org/obo/MONDO_0003299	A well-circumscribed benign smooth muscle neoplasm arising from the colorectal area. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	UMLS:C1333113|DOID:5143|NCIT:C5677
MONDO:0003292	anus leiomyoma	biolink:Disease	mondo	NCIT:C5608|DOID:5134|UMLS:C1332266		anal leiomyoma|leiomyoma of the anus|anus leiomyoma|leiomyoma of anus	http://purl.obolibrary.org/obo/MONDO_0003292	A well-circumscribed benign smooth muscle neoplasm arising from the anus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	NCIT:C5608|UMLS:C1332266|DOID:5134
MONDO:0003293	lung leiomyoma	biolink:Disease	mondo	DOID:5136|UMLS:C1334447|SCTID:707374005|NCIT:C5660		leiomyoma of lung|leiomyoma of the lung|lung leiomyoma|pulmonary leiomyoma	http://purl.obolibrary.org/obo/MONDO_0003293	A benign smooth muscle neoplasm arising from the lung. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	SNOMEDCT:707374005|NCIT:C5660|UMLS:C1334447|DOID:5136
MONDO:0003294	pericardium leiomyoma	biolink:Disease	mondo	UMLS:C1335380|DOID:5137|NCIT:C6743		pericardium leiomyoma|leiomyoma of the pericardium|leiomyoma of pericardium|pericardial leiomyoma	http://purl.obolibrary.org/obo/MONDO_0003294	A benign smooth muscle neoplasm arising from the pericardium. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	DOID:5137|NCIT:C6743|UMLS:C1335380
MONDO:0003295	leiomyomatosis	biolink:Disease	mondo	ICDO:8890/1|MESH:D018231|DOID:5138|UMLS:C0206654|NCIT:C3748		leiomyomatosis, no ICD-O subtype|leiomyomatosis|leiomyomatosis, no ICD-O subtype (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003295	A condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body.	DOID:5138|UMLS:C0206654|MESH:D018231|NCIT:C3748
MONDO:0003290	simple partial epilepsy	biolink:Disease	mondo	DOID:5129|ICD9:345.51			http://purl.obolibrary.org/obo/MONDO_0003290		DOID:5129
MONDO:0015269	symmetrical thalamic calcifications	biolink:Disease	mondo	Orphanet:1314|GARD:0005070|SCTID:719164000|UMLS:C4304914|ICD10:G93.8	ordo_disease|gard_rare	bilateral symmetrical thalamic gliosis	http://purl.obolibrary.org/obo/MONDO_0015269	Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness.	ORPHA:1314|UMLS:C4304914|SNOMEDCT:719164000
MONDO:0003291	leiomyoma cutis	biolink:Disease	mondo	UMLS:C0346064|SCTID:254767008|DOID:5132|NCIT:C4482		cutaneous leiomyoma|zone of skin leiomyoma|leiomyoma of skin|skin leiomyoma|cutaneous (skin) leiomyoma|leiomyoma of the skin|leiomyoma of zone of skin|leiomyoma cutis	http://purl.obolibrary.org/obo/MONDO_0003291	A benign smooth muscle neoplasm arising from the arrector pili muscle, tunica media of blood vessels, and dartos muscle of the genitalia. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.	SNOMEDCT:254767008|NCIT:C4482|UMLS:C0346064|DOID:5132
MONDO:0015268	medullary sponge kidney	biolink:Disease	mondo	ICD10:Q61.5|Orphanet:1309|MedDRA:10027104|NCIT:C34751|GARD:0000232|MESH:D007691|UMLS:C0022681|SCTID:236443009|COHD:195072|ICD9:753.17	ordo_morphological_anomaly|gard_rare	Cacchi Ricci disease|Cacchi-Ricci syndrome|Cacchi-Ricci disease|Precalyceal canalicular ectasia|Precalicial canalicular ectasia|cystic dilatation of renal collecting tubes|MSK|sponge kidney	http://purl.obolibrary.org/obo/MONDO_0015268	Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In a normal kidney, urine flows through these tubules as it is being formed. In MSK, tiny sacs called cysts form in the medulla (the inner part of the kidney), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typically do not occur until adolescence or adulthood. Problems caused by MSK include blood in the urine, kidney stones, and urinary tract infections. MSK rarely leads to more serious problems, such as total kidney failure. There is no cure for this condition, so treatment is aimed at removing kidney stones and treating urinary tract infections with antibiotics.	ORPHA:1309|NCIT:C34751|MESH:D007691|MEDDRA:10027104|UMLS:C0022681|SNOMEDCT:236443009
MONDO:0015263	Brugada syndrome	biolink:Disease	mondo	Orphanet:130|NCIT:C142891|MedDRA:10059027|SCTID:418818005|GARD:0001030|ICD9:746.89|OMIMPS:601144|DOID:0050451|ICD10:I49.8|MESH:D053840|UMLS:C1142166	clingen|ordo_disease	Bangungut|SUNDS|right bundle branch block, ST segment elevation, and sudden death syndrome|Pokkuri death syndrome|dream disease|Brugada syndrome|sudden unexpected nocturnal death syndrome|sudden unexplained nocturnal death syndrome|Brugada type idiopathic ventricular fibrillation|idiopathic ventricular fibrillation, Brugada type	http://purl.obolibrary.org/obo/MONDO_0015263	A genetically heterogeneous condition characterized by complete or incomplete right bundle branch block accompanied by ST elevation in leads V1-V3. There is a high incidence of ventricular arrhythmia that may result in sudden death.	ORPHA:130|MEDDRA:10059027|DOID:0050451|SNOMEDCT:418818005|MESH:D053840|UMLS:C1142166|NCIT:C71059|NCIT:C142891
NCBITaxon:2497576	Ellioviricetes	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2497576		
MONDO:0015262	brachyolmia	biolink:Disease	mondo	ICD9:756.19|ICD10:Q76.3|GARD:0010903|UMLS:C0432228|MESH:C537098|DOID:0050690|Orphanet:1293|SCTID:254088006	ordo_group_of_disorders	brachyrachia	http://purl.obolibrary.org/obo/MONDO_0015262	Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones.	MESH:C537098|SNOMEDCT:254088006|ORPHA:1293|DOID:0050690|UMLS:C0432228
MONDO:0015261	pseudopelade of Brocq	biolink:Disease	mondo	ICD10:L66.0|ICD9:704.09|SCTID:238731001|GARD:0004536|Orphanet:129	ordo_disease|gard_rare	Brocq pseudopelade|pseudo-pelade of Brocq|pseudo pelade of Brocq	http://purl.obolibrary.org/obo/MONDO_0015261	Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation.	MESH:C531609|UMLS:C0086873|ORPHA:129|SNOMEDCT:238731001
NCBITaxon:2497574	Monjiviricetes	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2497574		
MONDO:0015260	diphyllobothriasis	biolink:Disease	mondo	ICD9:123.4|ICD10:B70.0|MESH:D004169|Orphanet:128|EFO:0007238|DOID:10075|UMLS:C0012561|GARD:0000942|NCIT:C128391|MedDRA:10013029|SCTID:187151009	ordo_disease	fish tapeworm|Diphyllobothrium infectious disease|Diphyllobothrium caused disease or disorder|Diphyllobothrium disease or disorder|Diphyllobothrium infection|Bothriocephalosis	http://purl.obolibrary.org/obo/MONDO_0015260	Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anaemia caused by vitamin B12 deficiency that resembles Biermer anaemia (anaemia characterised by abnormally large red blood cells).	ORPHA:128|UMLS:C0277032|NCIT:C128391|UMLS:C0012561|MEDDRA:10013029|MESH:D004169|DOID:10075|SNOMEDCT:187151009
MONDO:0030883	carpal tunnel syndrome 2	biolink:Disease	mondo	OMIM:619161		CTS2|carpal tunnel syndrome 2	http://purl.obolibrary.org/obo/MONDO_0030883		http://identifiers.org/omim/619161
MONDO:0015267	Feingold syndrome	biolink:Disease	mondo	Orphanet:1305|GARD:0008407|DOID:0060464|NCIT:C74987|OMIMPS:164280|ICD10:Q87.8	ordo_malformation_syndrome	digital anomalies with short palpebral fissures and atresia of esophagus or duodenum|FGLDS|MMT|MODED syndrome|ODED syndrome|oculo-digito-esophageal-duodenal syndrome|FS|microcephaly-digital anomalies-normal intelligence syndrome|microcephaly-oculo-digito-esophageal-duodenal syndrome|microcephaly-intellectual disability-tracheoesophageal fistula syndrome|digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum|microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome|Brunner-Winter syndrome	http://purl.obolibrary.org/obo/MONDO_0015267	Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures.	ORPHA:1305|DOID:0060464|NCIT:C74987
MONDO:0054831	Coffin-Siris syndrome 7	biolink:Disease	mondo	OMIM:618027|UMLS:CN248780		COFFIN-SIRIS syndrome 7; CSS7|CSS7	http://purl.obolibrary.org/obo/MONDO_0054831		http://identifiers.org/omim/618027|UMLS:CN248780
NCBITaxon:34632	Rhipicephalus sanguineus	organism taxon	mondo	GC_ID:1		brown dog tick|Rhiphicephalus sanguineus|Ixodes sanguineus	http://purl.obolibrary.org/obo/NCBITaxon_34632		
MONDO:0015266	obsolete brucellosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015266		
MONDO:0015265	bronchiolitis obliterans with obstructive pulmonary disease	biolink:Disease	mondo	ICD9:491.8|GARD:0009551|HP:0011946|EFO:0007183|Orphanet:1303|ICD10:J44.8|UMLS:CN199179|DOID:2799|NCIT:C62580|SCTID:40100001|ICD9:466.19	gard_rare|ordo_disease	bo|bronchiolitis obliterans|organizing pneumonia|BOOP|constrictive bronchiolitis|bronchiolitis fibrosa obliterans|bronchiolitis exudativa|obliterative bronchiolitis|organized pneumonia	http://purl.obolibrary.org/obo/MONDO_0015265	Bronchiolitis obliterans syndrome (BOS) is a lung disorder that is mainly associated with chronic allograft dysfunction after lung transplantation and that is characterized by inflammation and fibrosis of bronchiolar walls that reduce the diameter of the bronchioles and result in progressive and irreversible airflow obstruction.	ORPHA:1303|UMLS:CN199179|NCIT:C62580|DOID:2799|SNOMEDCT:40100001
MONDO:0015264	cryptogenic organizing pneumonia	biolink:Disease	mondo	SCTID:719218000|GARD:0001620|EFO:1001300|Orphanet:1302|UMLS:C0242770|ICD9:516.36|DOID:0050157|NCIT:C62586|ICD10:J84.116|ICD10:J84.1|MESH:D018549|COHD:4045260	ordo_disease	idiopathic BOOP|COP|BOOP|bronchiolitis obliterans organizing pneumonia|idiopathic bronchiolitis obliterans organizing pneumonia|idiopathic bronchiolitis obliterans with organizing pneumonia|cryptogenic organizing pneumonitis	http://purl.obolibrary.org/obo/MONDO_0015264	Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized pathologically by organizing pneumonia (OP) that presents with non-specific flu-like symptoms, as well as cough and dyspnea and where no etiological agent is found.	SNOMEDCT:719218000|UMLS:C0242770|ORPHA:1302|DOID:0050157|NCIT:C62586|MESH:D018549
NCBITaxon:2497577	Insthoviricetes	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2497577		
NCBITaxon:34630	Rhipicephalus <genus>	organism taxon	mondo	GC_ID:1|PMID:14707501		Rhipicephalus	http://purl.obolibrary.org/obo/NCBITaxon_34630		
MONDO:0005846	microsporidiosis	biolink:Disease	mondo	DOID:4271|ICD9:117.9|SCTID:699676006|NCIT:C84891|UMLS:C0085407|GARD:0003655|Orphanet:2552|EFO:0007366|ICD10:B60.8|MedDRA:10053982|MESH:D016881	ordo_disease|gard_rare	infection by Microsporida|Microsporidia infection|Microsporidia disease or disorder|infection by Microspora|Microsporidiasis|Microsporidia infectious disease|Microsporidia caused disease or disorder|infection by Microsporea	http://purl.obolibrary.org/obo/MONDO_0005846	A fungal infection caused by Microsporidia. It occurs in immunocompromised patients, causing diarrhea and wasting.	NCIT:C84891|MESH:D016881|ORPHA:2552|UMLS:C0085407|MEDDRA:10053982|DOID:4271|SNOMEDCT:699676006
MONDO:0005845	meningoencephalitis	biolink:Disease	mondo	SCTID:7125002|UMLS:C0025309|ICD10:A69.22|ICD10:G04|NCIT:C34813|DOID:10554|EFO:0007364|MESH:D008590			http://purl.obolibrary.org/obo/MONDO_0005845	Inflammation of the meninges and brain, generally secondary to an infectious cause. Pathogens may be bacterial, viral, fungal, or protozoan.	SNOMEDCT:7125002|UMLS:C0025309|MESH:D008590|NCIT:C34813|DOID:10554
MONDO:0030801	monosomy 7 myelodysplasia and leukemia syndrome 2	biolink:Disease	mondo	OMIM:619041		monosomy 7 myelodysplasia and leukemia syndrome 2|M7MLS2	http://purl.obolibrary.org/obo/MONDO_0030801		http://identifiers.org/omim/619041
MONDO:0005848	miliary tuberculosis	biolink:Disease	mondo	ICD10:A19.9|ICD9:018.80|SCTID:47604008|MESH:D014391|ICD9:018.90|UMLS:C0152915|COHD:434559|ICD9:018|ICD10:A19|UMLS:C0041321|EFO:0007368|ICD9:018.9|NCIT:C35086|DOID:9861		acute miliary tuberculosis|generalized tuberculosis|disseminated tuberculosis|tuberculosis miliaris disseminata	http://purl.obolibrary.org/obo/MONDO_0005848	I would say the hematogenous widespread dissemination of tuberculosis in the body. The term derives from the chest X-ray image of the tiny (1-5 mm) tuberculosis lesions which are seen through out the lung parenchyma.	DOID:9861|NCIT:C35086|UMLS:C0152915|MESH:D014391|UMLS:C0041321|SNOMEDCT:47604008
MONDO:0005847	middle lobe syndrome	biolink:Disease	mondo	SCTID:28295001|DOID:2810|MESH:D008878|EFO:0007367|UMLS:C0026069			http://purl.obolibrary.org/obo/MONDO_0005847	Atelectasis of the right middle pulmonary lobe, with chronic pneumonitis. (Dorland, 27th ed)	UMLS:C0026069|SNOMEDCT:28295001|MESH:D008878|DOID:2810
MONDO:0005842	maxillary sinusitis	biolink:Disease	mondo	EFO:0007361|SCTID:88348008|DOID:2051|ICD10:J32.0|NCIT:C34809|UMLS:C0024959|MESH:D015523			http://purl.obolibrary.org/obo/MONDO_0005842	An acute or chronic inflammatory process affecting the mucous membrane of the maxillary sinus.	MESH:D015523|NCIT:C34809|DOID:2051|SNOMEDCT:88348008|UMLS:C0024959
MONDO:0005841	maxillary neoplasm	biolink:Disease	mondo	SCTID:126550004|UMLS:C0024954|EFO:0007360|DOID:4618|MESH:D008441		bone of upper jaw neoplasm|upper jaw bone cancer|tumor of bone of upper jaw|maxillary cancer|bone of upper jaw neoplasm (disease)|maxillary neoplasm|neoplasm of bone of upper jaw|bone of upper jaw tumor	http://purl.obolibrary.org/obo/MONDO_0005841	Cancer or tumors of the maxilla or upper jaw.	MESH:D008441|DOID:4618|UMLS:C0024954|SNOMEDCT:126550004
MONDO:0005844	chalazion	biolink:Disease	mondo	UMLS:C0007933|NCIT:C26717|COHD:381581|DOID:9903|SCTID:1482004|ICD10:H00.1|ICD9:373.2|MESH:D017043|EFO:0007363		chalazion|chalazia|Meibomian cyst|meibomian gland lipogranuloma|cyst, Meibomian	http://purl.obolibrary.org/obo/MONDO_0005844	An eyelid cyst caused by the blockage of a meibomian gland.	SNOMEDCT:1482004|UMLS:C0007933|MESH:D017043|NCIT:C26717|DOID:9903
MONDO:0005843	mediastinal cancer	biolink:Disease	mondo	NCIT:C3549|ICD9:164.9|DOID:5559|MESH:D008479|SCTID:363494000|ICD10:C38.3|EFO:0007362		malignant neoplasm of mediastinum|mediastinal tumor|malignant mediastinal tumor|malignant mediastinal neoplasm|malignant neoplasm of the mediastinum|mediastinum cancer|malignant mediastinum neoplasm|malignant mediastinal neoplasm NOS|malignant tumor of the mediastinum|malignant tumor of mediastinum|mediastinal cancer|cancer of mediastinum|cancer of the mediastinum|neoplasm of mediastinum|tumour of mediastinum	http://purl.obolibrary.org/obo/MONDO_0005843	A malignant neoplasm involving the mediastinum	NCIT:C3549|DOID:5559|SNOMEDCT:363494000|MESH:D008479
CHEBI:50817	iron oxide mineral	biolink:ChemicalSubstance	mondo			iron oxide minerals	http://purl.obolibrary.org/obo/CHEBI_50817		
GO:0046326	positive regulation of glucose import	biolink:OntologyClass	mondo			up-regulation of glucose import|activation of glucose import|upregulation of glucose import|up regulation of glucose import|positive regulation of glucose uptake|stimulation of glucose import	http://purl.obolibrary.org/obo/GO_0046326	Any process that activates or increases the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle.	
CHEBI:50816	iron oxide	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_50816		
GO:0046325	negative regulation of glucose import	biolink:OntologyClass	mondo			downregulation of glucose import|down regulation of glucose import|inhibition of glucose import|down-regulation of glucose import|negative regulation of glucose uptake	http://purl.obolibrary.org/obo/GO_0046325	Any process that stops, prevents, or reduces the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle.	
MONDO:0005840	obsolete mast-cell leukemia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005840		
GO:0046324	regulation of glucose import	biolink:OntologyClass	mondo			regulation of glucose uptake	http://purl.obolibrary.org/obo/GO_0046324	Any process that modulates the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle.	
CHEBI:37838	carboacyl group	biolink:ChemicalSubstance	mondo			carboxylic acyl group|carboxylic acyl groups|carboacyl groups	http://purl.obolibrary.org/obo/CHEBI_37838	A carboacyl group is a group formed by loss of at least one OH from the carboxy group of a carboxylic acid.	
MONDO:0017828	primary renal tubular acidosis	biolink:Disease	mondo	Orphanet:314822|ICD10:N25.8	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017828		ORPHA:314822
UBERON:0014463	cardiac ganglion	biolink:AnatomicalEntity	mondo			cardiac ganglia set|cardiac ganglion of Wrisberg|cardiac ganglia|ganglion of Wrisberg|ganglia cardiaca|Wrisberg ganglion	http://purl.obolibrary.org/obo/UBERON_0014463	Any of the parasympathetic ganglia of the cardiac plexus between the arch of the aorta and the bifurcation of the pulmonary artery.	
GO:0046323	glucose import	biolink:OntologyClass	mondo			glucose uptake	http://purl.obolibrary.org/obo/GO_0046323	The directed movement of the hexose monosaccharide glucose into a cell or organelle.	
GO:0046322	negative regulation of fatty acid oxidation	biolink:OntologyClass	mondo			downregulation of fatty acid oxidation|down regulation of fatty acid oxidation|inhibition of fatty acid oxidation|down-regulation of fatty acid oxidation	http://purl.obolibrary.org/obo/GO_0046322	Any process that stops, prevents, or reduces the frequency, rate or extent of fatty acid oxidation.	
UBERON:0014464	renal fat pad	biolink:AnatomicalEntity	mondo			perirenal fat pad	http://purl.obolibrary.org/obo/UBERON_0014464	Encapsulated adipose tissue associated with the kidney	
MONDO:0017829	autosomal dominant proximal renal tubular acidosis	biolink:Disease	mondo	UMLS:CN203801|Orphanet:314889|ICD10:N25.8	ordo_clinical_subtype	AD pRTA|proximal renal tubular acidosis, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0017829	Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications.	UMLS:CN203801|ORPHA:314889
GO:0046321	positive regulation of fatty acid oxidation	biolink:OntologyClass	mondo			up regulation of fatty acid oxidation|stimulation of fatty acid oxidation|up-regulation of fatty acid oxidation|activation of fatty acid oxidation|upregulation of fatty acid oxidation	http://purl.obolibrary.org/obo/GO_0046321	Any process that activates or increases the frequency, rate or extent of fatty acid oxidation.	
CHEBI:50819	ferric oxide	biolink:ChemicalSubstance	mondo			Eisentrioxid|iron(3+) oxide|iron(III) oxide|Eisen(III)-oxid|iron trioxide|diiron trioxide	http://purl.obolibrary.org/obo/CHEBI_50819		
CHEBI:50818	hematite	biolink:ChemicalSubstance	mondo			hematite|haematite|oligiste|hematita|Blutstein|Haematit|blood stone|oligist	http://purl.obolibrary.org/obo/CHEBI_50818		
GO:0046320	regulation of fatty acid oxidation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0046320	Any process that modulates the frequency, rate or extent of fatty acid oxidation.	
UBERON:0014466	subarachnoid fissure	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0014466		
NCBITaxon:46682	Heterakoidea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_46682		
MONDO:0017835	lymphocytic hypereosinophilic syndrome	biolink:Disease	mondo	UMLS:CN203810|ICD10:D47.5|Orphanet:314970	ordo_clinical_subtype	lymphocytic variant HES|lymphoid HES|HES-L	http://purl.obolibrary.org/obo/MONDO_0017835		UMLS:CN203810|ORPHA:314970
UBERON:0002481	bone tissue	biolink:AnatomicalEntity	mondo			portion of bone tissue|calcium tissue|osteogenic tissue|mineralized bone tissue|bone|osseous tissue	http://purl.obolibrary.org/obo/UBERON_0002481	Skeletal tissue with a collagen-rich extracellular matrix vascularized, mineralized with hydroxyapatite and typically including osteocytes located in lacunae that communicate with one another by cell processes (in canaliculi). Bone is deposited by osteoblasts.	
MONDO:0017836	erythrokeratoderma en cocardes	biolink:Disease	mondo	UMLS:CN203813|Orphanet:315|GARD:0001722|ICD9:447.8|SCTID:239062001|ICD10:Q82.8	ordo_disease|gard_rare	erythrokeratoderma 'en cocardes'|Degos 'en cocarde' erythrokeratoderma|Degos genodermatosis 'en cocardes'|Degos genodermatosis "en cocardes"|Degos genodermatosis|erythrokeratoderma "en cocardes"|erythrokeratoderma ''en cocardes''	http://purl.obolibrary.org/obo/MONDO_0017836	Erythrokeratoderma 'en cocardes' is a rare genodermatosis characterised by circumscribed target-like (or 'en cocardes') erythematous hyperkeratotic lesions. These lesions, which remit and recur, affect the trunk and extremities and are accompanied by scaly plaques evocative of erythrokeratoderma variabilis. Onset usually occurs at birth or during early childhood. Only few cases have been described. Transmission is autosomal dominant.	UMLS:CN203813|SNOMEDCT:239062001|ORPHA:315
MONDO:0017837	multiple sclerosis-ichthyosis-factor VIII deficiency syndrome	biolink:Disease	mondo	Orphanet:3151|UMLS:CN203814|ICD10:G37.8	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017837	Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992.	ORPHA:3151|UMLS:CN203814
CHEBI:84144	L-phenylalanine derivative	biolink:ChemicalSubstance	mondo			L-phenylalanine derivatives	http://purl.obolibrary.org/obo/CHEBI_84144	A proteinogenic amino acid derivative resulting from reaction of L-phenylalanine  at the amino group or the carboxy group, or from the replacement of any hydrogen of L-phenylalanine  by a heteroatom.	
NCBITaxon:46684	Ascaridia	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_46684		
MONDO:0017838	sclerosteosis	biolink:Disease	mondo	ICD10:M85.2|NCIT:C131133|OMIMPS:269500|UMLS:C0265301|MESH:C537525|ICD9:756.59|GARD:0004771|SCTID:17568006|DOID:0060251|Orphanet:3152	ordo_malformation_syndrome	cortical hyperostosis-syndactyly syndrome|cortical hyperostosis with syndactyly	http://purl.obolibrary.org/obo/MONDO_0017838	Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.	SNOMEDCT:17568006|ORPHA:3152|UMLS:C0265301|MESH:C537525|NCIT:C131133|DOID:0060251
CL:0002145	ciliated columnar cell of tracheobronchial tree	biolink:Cell	mondo	FMA:70542			http://purl.obolibrary.org/obo/CL_0002145	A ciliated columnar cell found in the trachea and bronchus. Vary from low to tall columnar; possesses up to 300 cilia at its surface, interspersed with long irregular microvilli with the cilia varying in length from about 6um in the trachea to about 4um in the terminal bronchioles; driving force of the ciliary current in the bronchial tree.	
CHEBI:84143	D-phenylalanine derivative	biolink:ChemicalSubstance	mondo			D-phenylalanine derivatives	http://purl.obolibrary.org/obo/CHEBI_84143	A non-proteinogenic amino acid derivative resulting from reaction of D-phenylalanine at the amino group or the carboxy group, or from the replacement of any hydrogen of D-phenylalanine by a heteroatom.	
NCBITaxon:46683	Ascaridiidae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_46683		
MONDO:0017831	mild Canavan disease	biolink:Disease	mondo	ICD10:E75.2|Orphanet:314918	ordo_clinical_subtype	juvenile Canavan disease	http://purl.obolibrary.org/obo/MONDO_0017831	Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development.	ORPHA:314918
MONDO:0017832	mycobacterium xenopi infection	biolink:Disease	mondo	UMLS:C0275715|Orphanet:314946|GARD:0010550|ICD10:A31.8	ordo_disease	Mycobacterium xenopi disease or disorder|M. xenopi|Mycobacterium xenopi infectious disease|Mycobacterium xenopi caused disease or disorder|Mycobacterium xenopi	http://purl.obolibrary.org/obo/MONDO_0017832	A disease caused by infection with Mycobacterium xenopi.	UMLS:C0275715|ORPHA:314946
MONDO:0017833	primary hypereosinophilic syndrome	biolink:Disease	mondo	Orphanet:314950|ICD10:D47.5|UMLS:CN203808	ordo_disease	clonal hypereosinophilic syndrome|primary HES|neoplastic hypereosinophilic syndrome|HES-N|HES-M	http://purl.obolibrary.org/obo/MONDO_0017833		UMLS:CN203808|ORPHA:314950
MONDO:0017834	secondary hypereosinophilic syndrome	biolink:Disease	mondo	UMLS:CN203809|Orphanet:314962|ICD10:D47.5	ordo_disease	HES-R|secondary HES|reactive hypereosinophilic syndrome	http://purl.obolibrary.org/obo/MONDO_0017834		UMLS:CN203809|ORPHA:314962
NCBITaxon:2267273	Dibothriocephalus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2267273		
MONDO:0017830	severe Canavan disease	biolink:Disease	mondo	Orphanet:314911|ICD10:E75.2|UMLS:CN203803	ordo_clinical_subtype	neonatal Canavan disease|infantile Canavan disease	http://purl.obolibrary.org/obo/MONDO_0017830	Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia.	ORPHA:314911|UMLS:CN203803
HGNC:9220	POU4F3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9220		
MONDO:0005839	obsolete Marburg hemorrhagic fever	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005839		
UBERON:0002485	prostate duct	biolink:AnatomicalEntity	mondo			duct of prostate|prostate duct|prostate gland duct|prostatic duct|duct of prostate gland	http://purl.obolibrary.org/obo/UBERON_0002485	The minute canals that pass the prostatic secretions to the urethra.	
MONDO:0005838	mansonelliasis	biolink:Disease	mondo	DOID:1081|SCTID:240849009|NCIT:C84882|Orphanet:2459|UMLS:C0024759|ICD10:B74.4|EFO:0007357|GARD:0008216|MESH:D008368	gard_rare|ordo_disease	Mansonella perstans infections|Mansonellosis	http://purl.obolibrary.org/obo/MONDO_0005838	A parasitic infection caused by the nematode Mansonella. Signs and symptoms include pruritus, headache, fever, arthralgias, and eosinophilia.	NCIT:C84882|ORPHA:2459|MESH:D008368|SNOMEDCT:240849009|UMLS:C0024759|DOID:1081
SO:0001645	genetic_marker	biolink:SequenceFeature	mondo			genetic marker	http://purl.obolibrary.org/obo/SO_0001645	A measurable sequence feature that varies within a population.	
UBERON:0002486	glottis	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0002486	the vocal apparatus of the larynx, which includes the vocal cords and the opening between them	
MONDO:0005857	morbillivirus infectious disease	biolink:Disease	mondo	UMLS:C0206614|EFO:0007377|MESH:D018185		Morbillivirus disease or disorder|Morbillivirus infectious disease|Morbillivirus caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005857	Infections with viruses of the genus morbillivirus, family paramyxoviridae. Infections mainly cause acute disease in their hosts, although in some cases infection is persistent and leads to degenerative conditions.	UMLS:C0206614|MESH:D018185
MONDO:0005856	Mononegavirales infectious disease	biolink:Disease	mondo	MESH:D018701|UMLS:C0242916|EFO:0007376		Mononegavirales caused disease or disorder|Mononegavirales disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005856	Infections with viruses of the order mononegavirales. The concept includes filoviridae infections; paramyxoviridae infections; and rhabdoviridae infections.	UMLS:C0242916|MESH:D018701
MONDO:0005859	mucocutaneous leishmaniasis	biolink:Disease	mondo	UMLS:C1328252|ICD9:085.5|MESH:D007897|EFO:0007379|UMLS:C3495436|ICD10:B55.2|NCIT:C34769|DOID:9155		mucocutaneous leishmaniasis, American|New World cutaneous leishmaniasis|cutaneous leishmaniasis, American|American cutaneous leishmaniasis|mucocutaneous leishmaniasis, (American)|American mucocutaneous leishmaniasis	http://purl.obolibrary.org/obo/MONDO_0005859	The most common form of leishmaniasis that is transmitted through the bite of female phlebotomine sand flies or after exposure to leishmania parasites. It is characterized by skin lesions at the site of insect bite which typically develop within weeks or months after exposure. The lesions typically progress from small papules to open sores with raised borders and central ulcers which can be covered with scales or crust.	UMLS:C1328252|UMLS:C3495436|NCIT:C34769|MESH:D007897|DOID:9155
MONDO:0005858	mucinous cystadenocarcinoma	biolink:Disease	mondo	DOID:3603|NCIT:C3776|ICDO:8470/3|MESH:D018282|UMLS:C0206699|EFO:0007378		mucinous cystadenocarcinoma NOS (morphologic abnormality)|mucinous cystadenocarcinoma (morphologic abnormality)|Pseudomucinous cystadenocarcinoma|mucinous cystadenocarcinoma|Pseudomucinous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005858	An invasive adenocarcinoma characterized by cystic changes and the presence of malignant glandular cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung.	NCIT:C3776|UMLS:C0206699|DOID:3603|MESH:D018282
UBERON:0014451	tongue taste bud	biolink:AnatomicalEntity	mondo			gustatory papilla taste bud|gustatory papillae taste bud	http://purl.obolibrary.org/obo/UBERON_0014451	A taste bud that is located on the tongue, situated on a gustatory papilla.	
MONDO:0005853	malignant mixed neoplasm	biolink:Disease	mondo	EFO:1000356|DOID:154|MESH:D018198|UMLS:C0206625|EFO:0007373|NCIT:C3729|ICDO:8940/3		malignant mixed tumor|tumor, mixed, malignant|tumors, malignant mixed|mixed tumors, malignant|mixed cell type cancer|mixed neoplasm|malignant mixed cancer|mixed neoplasm, malignant|mixed tumor, malignant (morphologic abnormality)|mixed tumor|malignant mixed neoplasm|malignant mixed tumors|mixed tumor, malignant, NOS (morphologic abnormality)|mixed tumor, malignant|tumor, malignant mixed	http://purl.obolibrary.org/obo/MONDO_0005853	A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung.	DOID:154|UMLS:C0206625|MESH:D018198|NCIT:C3729
GO:1900404	positive regulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter	biolink:OntologyClass	mondo			up regulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter|stimulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter|up-regulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter|activation of DNA repair by positive regulation of transcription from RNA polymerase II promoter|upregulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_1900404	A positive regulation of transcription from RNA polymerase II promoter that results in positive regulation of DNA repair.	
MONDO:0005852	mitral valve stenosis	biolink:Disease	mondo	COHD:315273|DOID:1754|UMLS:C0026269|MESH:D008946|SCTID:79619009|EFO:0007372		mitral stenosis|mitral valve stenoses|mitral stenoses|valve stenoses, mitral|stenoses, mitral|stenoses, mitral valve|stenosis, mitral|stenosis, mitral valve|valve stenosis, mitral	http://purl.obolibrary.org/obo/MONDO_0005852	Narrowing of the left atrioventricular mitral orifice.	UMLS:C0026269|NCIT:C50654|SNOMEDCT:79619009|MESH:D008946|DOID:1754
GO:1900403	obsolete negative regulation of cellular amino acid biosynthetic process by negative regulation of transcription from RNA polymerase II promoter	biolink:OntologyClass	mondo			negative regulation of cellular amino acid biosynthesis by negative regulation of transcription from RNA polymerase II promoter|negative regulation of amino acid biosynthetic process by negative regulation of transcription from RNA polymerase II promoter|negative regulation of cellular amino acid anabolism by negative regulation of transcription from RNA polymerase II promoter|negative regulation of cellular amino acid synthesis by negative regulation of transcription from RNA polymerase II promoter|negative regulation of cellular amino acid formation by negative regulation of transcription from RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_1900403	OBSOLETE. A negative regulation of transcription from RNA polymerase II promoter that results in negative regulation of cellular amino acid biosynthetic process.	
MONDO:0005855	molluscum contagiosum	biolink:Disease	mondo	SCTID:40070004|MESH:D008976|UMLS:C0026393|DOID:8867|ICD10:B08.1|ICD9:078.0|EFO:0007375			http://purl.obolibrary.org/obo/MONDO_0005855	A common, benign, usually self-limited viral infection of the skin and occasionally the conjunctivae by a poxvirus (molluscum contagiosum virus). (Dorland, 27th ed)	UMLS:C0026393|MESH:D008976|SNOMEDCT:40070004|DOID:8867
MONDO:0005854	mixed connective tissue disease	biolink:Disease	mondo	NCIT:C84892|MedDRA:10027754|GARD:0007051|SCTID:398049005|MESH:D008947|ICD10:M35.1|Orphanet:809|EFO:0007374|UMLS:C0026272|DOID:3492	gard_rare|ordo_disease	mixed collagen vascular disease|MCTD|connective tissue disease overlap syndrome|sharp syndrome	http://purl.obolibrary.org/obo/MONDO_0005854	Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresivedrugsmay help manage the symptoms.	UMLS:C0026272|ORPHA:809|DOID:3492|MESH:D008947|MEDDRA:10027754|SNOMEDCT:398049005|NCIT:C84892
CHEBI:25865	penicillanic acids	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_25865		
MONDO:0005851	Miller Fisher syndrome	biolink:Disease	mondo	MedDRA:10049567|SCTID:1767005|UMLS:C0393799|MESH:D019846|NCIT:C116958|ICD10:G61.0|Orphanet:98919|DOID:12889|GARD:0003668|EFO:0007371	ordo_disease	cranial variant of Guillain-BarrC) syndrome|syndrome, Fisher|Fisher syndrome|syndrome, Miller Fisher|Miller-Fisher syndrome|Miller Fisher variant of Guillain Barre syndrome|Fisher's syndrome|syndrome, Miller-Fisher|ophthalmoplegia, ataxia and areflexia syndrome|Guillain-Barre syndrome, Miller Fisher variant|Guillain Barre syndrome, Miller Fisher variant|cranial variant of Guillain-Barré syndrome|cranial variant of GBS|Miller-Fisher variant of Guillain-Barre syndrome	http://purl.obolibrary.org/obo/MONDO_0005851	An autoimmune process characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia.	NCIT:C116958|ORPHA:98919|MESH:D019846|DOID:12889|UMLS:C0393799|MEDDRA:10049567|SNOMEDCT:1767005
GO:1900402	obsolete regulation of carbohydrate metabolic process by regulation of transcription from RNA polymerase II promoter	biolink:OntologyClass	mondo			regulation of carbohydrate metabolism by regulation of transcription from RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_1900402	OBSOLETE. A regulation of transcription from RNA polymerase II promoter that results in regulation of carbohydrate metabolic process.	
CHEBI:37848	plant hormone	biolink:ChemicalSubstance	mondo			phytohormones|phytohormone|plant hormones|plant growth hormones|plant growth factor|plant growth factors|plant growth hormone	http://purl.obolibrary.org/obo/CHEBI_37848	A plant growth regulator that modulates the formation of stems, leaves and flowers, as well as the development and ripening of fruit. The term includes endogenous and non-endogenous compounds (e.g. active compounds produced by bacteria on the leaf surface) as well as semi-synthetic and fully synthetic compounds.	
MONDO:0005850	milker's nodule	biolink:Disease	mondo	ICD10:B08.04|ICD9:051.1|SCTID:27240009|DOID:8729|MESH:D011213|UMLS:C0026143|ICD9:051.9|EFO:0007370		Paravaccinia|Pseudocowpox|milker nodule|milkers' node	http://purl.obolibrary.org/obo/MONDO_0005850	Virus diseases caused by the poxviridae.	SNOMEDCT:27240009|MESH:D011213|DOID:8729|UMLS:C0026143
UBERON:0014452	gustatory epithelium of tongue	biolink:AnatomicalEntity	mondo			lingual gustatory epithelium	http://purl.obolibrary.org/obo/UBERON_0014452	A gustatory epithelium that is part of a tongue.	
MONDO:0017817	primary localized amyloidosis	biolink:Disease	mondo	Orphanet:314709|ICD10:E85.4	ordo_clinical_subtype	localized AL amyloidosis	http://purl.obolibrary.org/obo/MONDO_0017817	Primary localized amyloidosis is a form of AL amyloidosis caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin.	ORPHA:314709
MONDO:0017818	lethal arteriopathy syndrome due to fibulin-4 deficiency	biolink:Disease	mondo	Orphanet:314718|UMLS:CN203788	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017818		ORPHA:314718|UMLS:CN203788
UBERON:0014453	gustatory epithelium of palate	biolink:AnatomicalEntity	mondo			palatal gustatory epithelium	http://purl.obolibrary.org/obo/UBERON_0014453	A gustatory epithelium that is part of a roof of mouth.	
MONDO:0017819	atypical dentin dysplasia due to SMOC2 deficiency	biolink:Disease	mondo	ICD10:K00.5|UMLS:CN203789|Orphanet:314721	ordo_clinical_subtype	dentin dysplasia type 1 with microdontia and shape anomalies	http://purl.obolibrary.org/obo/MONDO_0017819		ORPHA:314721|UMLS:CN203789
UBERON:0014454	visceral abdominal adipose tissue	biolink:AnatomicalEntity	mondo			visceral fat|visceral adipose tissue|intra-abdominal adipose tissue|intra-abdominal fat|abdominal fat|organ fat	http://purl.obolibrary.org/obo/UBERON_0014454	Subcutaneous adipose tissue that is located in the peritoneal cavity.	
UBERON:0014455	subcutaneous abdominal adipose tissue	biolink:AnatomicalEntity	mondo			subcutaneous abdominal fat|subcutaneous fat of abdominal region|abdominal subcutaneous adipose tissue	http://purl.obolibrary.org/obo/UBERON_0014455	Subcutaneous adipose tissue that is located in the abdominal region.	
MONDO:0017824	familial isolated pituitary adenoma	biolink:Disease	mondo	ICD10:D35.2|UMLS:CN239192|UMLS:CN244420|Orphanet:314777|SCTID:702375004	ordo_disease	FIPA	http://purl.obolibrary.org/obo/MONDO_0017824		UMLS:CN244420|UMLS:CN239192|ORPHA:314777|SNOMEDCT:702375004
UBERON:0002470	autopod region	biolink:AnatomicalEntity	mondo			autopod|autopodium|distal segment of limb|distal free limb segment|autopodium region|distal segment of free limb|autopodial limb segment|autopodial element|paw/hand/foot/hoof|manus/pes|autopodial segment|paw|pod	http://purl.obolibrary.org/obo/UBERON_0002470	Terminal segment of free limb, immediately distal to the zeugopod region. The fully developed autopod consists of the autopod skeleton plus associated structures such as integument, muscle tissue, vasculature etc. The autopod is divided into mesopodial, metapodiual, and acropodial segments. Examples: human hand, mouse paw, human foot	
MONDO:0017825	silent pituitary adenoma	biolink:Disease	mondo	UMLS:CN203795|Orphanet:314786|ICD10:D35.2	ordo_histopathological_subtype		http://purl.obolibrary.org/obo/MONDO_0017825		UMLS:CN203795|ORPHA:314786
UBERON:0002472	stylopod	biolink:AnatomicalEntity	mondo			stylopodial limb segment|proximal segment of free limb|propodium|proximal part of limb|stylopodium|proximal free limb segment	http://purl.obolibrary.org/obo/UBERON_0002472	The proximal free limb segment. Includes as parts the stylopod skeleton.	
MONDO:0017826	null pituitary adenoma	biolink:Disease	mondo	ICD10:D35.2|Orphanet:314790|UMLS:CN203796	ordo_histopathological_subtype		http://purl.obolibrary.org/obo/MONDO_0017826		UMLS:CN203796|ORPHA:314790
MONDO:0017827	malignant peripheral nerve sheath tumor	biolink:Disease	mondo	SCTID:404037002|ICDO:9540/3|ICD10:C47.9|ICD9:171.9|GARD:0010872|ICDO:9560/3|ONCOTREE:MPNST|UMLS:C0751690|MedDRA:10029236|Orphanet:3148|DOID:5940|NCIT:C3798	ordo_disease	malignant neurilemmoma|malignant neurilemoma|malignant peripheral nerve sheath tumor [dup] (morphologic abnormality)|malignant peripheral nerve sheath tumour|neurogenic sarcoma|neurofibrosarcoma|malignant schwannoma|malignant neoplasm of peripheral nerve sheath|malignant neurofibroma|malignant neoplasm of the peripheral nerve sheath|malignant peripheral nerve sheath tumor|schwannoma, malignant|malignant peripheral nerve sheath tumor (morphologic abnormality)|malignant tumor of the peripheral nerve sheath|Malig. periph. nerve sheath tum.|malignant peripheral nerve sheath neoplasm|neurofibrosarcoma, malignant|malignant tumor of peripheral nerve sheath|MPNST	http://purl.obolibrary.org/obo/MONDO_0017827	Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites.	ORPHA:3148|NCIT:C3798|DOID:5940|MEDDRA:10029236|UMLS:C0751690|SNOMEDCT:404037002
UBERON:0002471	zeugopod	biolink:AnatomicalEntity	mondo			middle part of limb|zygopod|middle free limb segment|zeugopodium|epipodium|zeugopodial limb segment|zygopodium|zeugopod limb segment|middle segment of free limb|middle limb segment	http://purl.obolibrary.org/obo/UBERON_0002471	The middle free limb segment, between the autopod and stylopod segments. Includes as parts the zeugopodial skeleton. Examples: There are two types of zeugopod: forelimb zeugopod (aka forearm), hindlimb zeugopod (aka crus).	
MONDO:0017820	obsolete disease with Cushing syndrome as a major feature	biolink:Disease	mondo	Orphanet:314749|UMLS:CN203791		rare disease with Cushing syndrome as a major feature	http://purl.obolibrary.org/obo/MONDO_0017820	A disease in which Cushing syndrome is a major feature.	UMLS:CN203791|ORPHA:314749
CL:0002159	general ecto-epithelial cell	biolink:Cell	mondo	FMA:70556			http://purl.obolibrary.org/obo/CL_0002159	Epithelial cells derived from general body ectoderm and ectoderm placodes.	
MONDO:0017821	obsolete functioning pituitary adenoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0017821		
MONDO:0017822	mixed functioning pituitary adenoma	biolink:Disease	mondo	Orphanet:314759|SCTID:254961003|UMLS:C0346305	ordo_group_of_disorders	mixed secreting pituitary adenoma	http://purl.obolibrary.org/obo/MONDO_0017822		SNOMEDCT:254961003|UMLS:C0346305|ORPHA:314759
MONDO:0017823	somatomammotropinoma	biolink:Disease	mondo	Orphanet:314769|ICD10:D35.2|UMLS:CN203793	ordo_disease	Growth hormone and prolactin cosecreting pituitary adenoma|Somatoprolactinoma|GH and PRL cosecreting pituitary adenoma|Somatolactotropinoma	http://purl.obolibrary.org/obo/MONDO_0017823		UMLS:CN203793|ORPHA:314769
UBERON:0002478	orbitosphenoid	biolink:AnatomicalEntity	mondo			ala minor (os sphenoidale)|lesser wing of sphenoid bone|orbitosphenoid bone|orbito-sphénocïde@fr|conchosphénocïde@fr|ala minor ossis sphenoidalis|alae parvae|lesser wing of sphenoidal bone|orbitosphenoids|ingrassia's process|lesser wing of sphenoid	http://purl.obolibrary.org/obo/UBERON_0002478	the bone that is situated in the orbit on either side of the presphenoid; it generally forms a part of the sphenoid in the adult, and may be independent in the young	
SO:0001637	rRNA_gene	biolink:SequenceFeature	mondo			rDNA|rRNA gene	http://purl.obolibrary.org/obo/SO_0001637	A gene that encodes for ribosomal RNA.	
HGNC:9236	PPARG	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9236		
MONDO:0005849	milk allergic reaction	biolink:Disease	mondo	MESH:D016269|UMLS:C0079840|DOID:4376|EFO:0007369		milk allergy|milk allergic reaction	http://purl.obolibrary.org/obo/MONDO_0005849	Allergic reaction to milk (usually cow's milk) or milk products. milk hypersensitivity should be differentiated from lactose intolerance, an intolerance to milk as a result of congenital deficiency of lactase.	MESH:D016269|DOID:4376|UMLS:C0079840
UBERON:0002473	intercerebral commissure	biolink:AnatomicalEntity	mondo			inter-hemispheric commissure|commissure of cerebrum|interhemispheric commissure	http://purl.obolibrary.org/obo/UBERON_0002473	A commissure that connects the two cerebral hemispheres. Examples: anterior commissure, corpus callosum.	
MONDO:0005824	Legionnaires' disease	biolink:Disease	mondo	EFO:0007343|SCTID:195889001|ICD10:A48.1|MESH:D007877|NCIT:C128339|DOID:10457|ICD9:482.84		legionnaire's disease|Legionella|Legionella pneumonia|infection by Legionella pneumophilia	http://purl.obolibrary.org/obo/MONDO_0005824	A pneumonia caused by Legionella pneumophila and other Legionella species, which is characterized by fever, cough, progressive respiratory distress, and which is often accompanied by extrapulmonary manifestations.	SNOMEDCT:195889001|DOID:10457|NCIT:C128339|MESH:D007877
GO:1900418	obsolete positive regulation of purine nucleotide biosynthetic process by positive regulation of transcription from RNA polymerase II promoter	biolink:OntologyClass	mondo			upregulation of purine nucleotide synthesis by positive regulation of transcription from RNA polymerase II promoter|activation of purine nucleotide biosynthetic process by positive regulation of transcription from RNA polymerase II promoter|activation of purine nucleotide synthesis by positive regulation of transcription from RNA polymerase II promoter|up-regulation of purine nucleotide anabolism by positive regulation of transcription from RNA polymerase II promoter|upregulation of purine nucleotide formation by positive regulation of transcription from RNA polymerase II promoter|activation of purine nucleotide formation by positive regulation of transcription from RNA polymerase II promoter|activation of purine nucleotide biosynthesis by positive regulation of transcription from RNA polymerase II promoter|upregulation of purine nucleotide biosynthetic process by positive regulation of transcription from RNA polymerase II promoter|upregulation of purine nucleotide biosynthesis by positive regulation of transcription from RNA polymerase II promoter|up regulation of purine nucleotide anabolism by positive regulation of transcription from RNA polymerase II promoter|up-regulation of purine nucleotide synthesis by positive regulation of transcription from RNA polymerase II promoter|positive regulation of purine nucleotide anabolism by positive regulation of transcription from RNA polymerase II promoter|positive regulation of purine nucleotide biosynthesis by positive regulation of transcription from RNA polymerase II promoter|up regulation of purine nucleotide synthesis by positive regulation of transcription from RNA polymerase II promoter|up-regulation of purine nucleotide formation by positive regulation of transcription from RNA polymerase II promoter|upregulation of purine nucleotide anabolism by positive regulation of transcription from RNA polymerase II promoter|up regulation of purine nucleotide biosynthesis by positive regulation of transcription from RNA polymerase II promoter|positive regulation of purine nucleotide synthesis by positive regulation of transcription from RNA polymerase II promoter|up regulation of purine nucleotide biosynthetic process by positive regulation of transcription from RNA polymerase II promoter|activation of purine nucleotide anabolism by positive regulation of transcription from RNA polymerase II promoter|up regulation of purine nucleotide formation by positive regulation of transcription from RNA polymerase II promoter|positive regulation of purine nucleotide formation by positive regulation of transcription from RNA polymerase II promoter|up-regulation of purine nucleotide biosynthetic process by positive regulation of transcription from RNA polymerase II promoter|up-regulation of purine nucleotide biosynthesis by positive regulation of transcription from RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_1900418	OBSOLETE. A positive regulation of transcription from RNA polymerase II promoter that results in positive regulation of purine nucleotide biosynthetic process.	
MONDO:0005823	legionellosis	biolink:Disease	mondo	MedDRA:10061266|EFO:0007342|ICD10:A48.1|UMLS:CN205282|SCTID:26726000|Orphanet:549|MESH:D007876|NCIT:C128334|MedDRA:10035718|DOID:10458|UMLS:C0023240	ordo_disease	Legionella infection|Legionnaires disease	http://purl.obolibrary.org/obo/MONDO_0005823	Any disease caused by Legionella bacteria.	SNOMEDCT:26726000|DOID:10458|NCIT:C128334|MEDDRA:10035718|ORPHA:549|UMLS:C0023240|UMLS:C0023241|MESH:D007876|MEDDRA:10061266|UMLS:CN205282
MONDO:0005826	lipid pneumonia	biolink:Disease	mondo	EFO:0007345|DOID:3241|SCTID:707449006|UMLS:C0032298|GARD:0006394|ICD10:J69.1|MESH:D011017		pneumonia lipid|exogenous lipoid pneumonia|lipoid pneumonitis	http://purl.obolibrary.org/obo/MONDO_0005826	Pneumonia due to aspiration or inhalation of various oily or fatty substances.	UMLS:C0032298|SNOMEDCT:707449006|MESH:D011017|DOID:3241
MONDO:0005825	leptospirosis	biolink:Disease	mondo	EFO:0007344|ICD9:100.0|ICD10:A27.0|ICD9:100.9|ICD9:100|MESH:D007922|GARD:0007881|MedDRA:10024238|SCTID:77377001|Orphanet:509|NCIT:C84825|ICD10:A27|ICD10:A27.9|UMLS:C0023364|COHD:432246|ICD9:100.89|DOID:2297|ICD10:A27.8	gard_rare|ordo_disease	Weil's disease|nanukayami fever|rat catcher's yellows|harvest fever|seven day fever|Icterohemorrhagic fever|leptospirosis|cane cutter's fever|leptospirosis icterohaemorrhagica|swamp fever|swineherd's disease|Queensland fever|Leptospira disease or disorder|mud fever|fort Bragg fever|infection due to Leptospira|hemorrhagic jaundice|canicola fever|japanese autumnal fever|Weil disease|Stuttgart disease|cane-cutter fever|Leptospira infectious disease|spirochetal jaundice|rice-field worker's disease|Leptospira caused disease or disorder|rice-field fever	http://purl.obolibrary.org/obo/MONDO_0005825	A contagious bacterial infection caused by spirochetes of the genus Leptospira. Humans are infected by contact with water and soil which have been contaminated with animal waste products. The signs and symptoms include an initial flu-like phase, followed by a second phase in which patients may develop meningitis, liver failure and renal failure.	NCIT:C84825|MEDDRA:10024238|SNOMEDCT:77377001|ORPHA:509|UMLS:C0023364|MESH:D007922|DOID:2297
MONDO:0005820	Lassa fever	biolink:Disease	mondo	SCTID:19065005|NCIT:C128418|ICD9:078.89|DOID:9537|Orphanet:99824|ICD10:A96.2|EFO:0007338|MedDRA:10023927|UMLS:C0023092|MESH:D007835	ordo_disease	Lassa hemorrhagic fever|LF	http://purl.obolibrary.org/obo/MONDO_0005820	A viral hemorrhagic fever that is caused by the Lassa virus, which is transmitted by contact with infected rodents; it is characterized by fever, headache, malaise, myalgia, and hearing loss.	ORPHA:99824|NCIT:C128418|MEDDRA:10023927|SNOMEDCT:19065005|UMLS:C0023092|MESH:D007835|DOID:9537
UBERON:0002459	inferior palpebral vein	biolink:AnatomicalEntity	mondo			lower palpebral vein|venae palpebrales inferiores|vein of inferior eyelid|inferior palpebral veins set|inferior palpebral veins	http://purl.obolibrary.org/obo/UBERON_0002459	A blood vessel that drains from from an lower eyelid.	
MONDO:0005822	latent syphilis	biolink:Disease	mondo	EFO:0007340|COHD:40485064|SCTID:444150000|DOID:9531|ICD10:A53.0|MESH:D013592|UMLS:C0039133|ICD9:097.1|NCIT:C35056			http://purl.obolibrary.org/obo/MONDO_0005822	A stage of syphilis characterized by the serologic evidence of infection by Treponema pallidum without evidence of accompanying signs or symptoms related to the disease.	DOID:9531|UMLS:C0039133|NCIT:C35056|MESH:D013592|SNOMEDCT:444150000
MONDO:0005821	late congenital syphilis	biolink:Disease	mondo	ICD10:A50.59|ICD9:090.5|DOID:10039|ICD10:A50.5|ICD9:090.4|ICD10:A50.4|ICD9:090.7|EFO:0007339|SCTID:82323002|ICD10:A50.40|ICD9:090.40		juvenile syphilis|late congenital syphilis, symptomatic (2 years or more)|late congenital syphilis (2 years or more)|juvenile neurosyphilis|late congenital syphilis	http://purl.obolibrary.org/obo/MONDO_0005821		SNOMEDCT:82323002|DOID:10039
GO:1900413	obsolete positive regulation of phospholipid biosynthetic process by positive regulation of transcription from RNA polymerase II promoter	biolink:OntologyClass	mondo			positive regulation of phospholipid synthesis by positive regulation of transcription from RNA polymerase II promoter|positive regulation of phospholipid biosynthesis by positive regulation of transcription from RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_1900413	OBSOLETE. A positive regulation of transcription from RNA polymerase II promoter that results in positive regulation of phospholipid biosynthetic process.	
MONDO:0017806	15q overgrowth syndrome	biolink:Disease	mondo	Orphanet:314585|UMLS:CN203769|ICD10:Q87.3	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0017806	15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly.	ORPHA:314585|UMLS:CN203769
MONDO:0017807	growing teratoma syndrome	biolink:Disease	mondo	NCIT:C118370|UMLS:C3891714|Orphanet:314613|UMLS:CN203773	ordo_clinical_situation	GTS	http://purl.obolibrary.org/obo/MONDO_0017807	A condition characterized by the presence of a growing mature teratoma in a patient during or after chemotherapy for a non-seminomatous germ cell tumor, with normal serum markers for human chorionic gonadotropin and alpha fetoprotein. Complete surgical resection is the preferred treatment.	ORPHA:314613|UMLS:CN203773|NCIT:C118370|UMLS:C3891714
MONDO:0017808	duplication of the pituitary gland	biolink:Disease	mondo	Orphanet:314621|ICD10:Q89.2|UMLS:CN203774	ordo_morphological_anomaly	hypophyseal duplication|Duplication of the pituitary gland-plus syndrome|DPG-plus syndrome	http://purl.obolibrary.org/obo/MONDO_0017808		ORPHA:314621|UMLS:CN203774
MONDO:0017809	parkinsonism due to ATP13A2 deficiency	biolink:Disease	mondo	ICD10:E75.4|Orphanet:314632|UMLS:CN203776	ordo_disease	CLN12 disease	http://purl.obolibrary.org/obo/MONDO_0017809		ORPHA:314632|UMLS:CN203776
FOODON:03411998	decapod	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03411998	The Decapoda or decapods (literally "ten-footed") are an order of crustaceans within the class Malacostraca, including many familiar groups, such as crayfish, crabs, lobsters, prawns, and shrimp. Most decapods are scavengers. [https://en.wikipedia.org/wiki/Decapoda]	
MONDO:0017813	van Maldergem syndrome	biolink:Disease	mondo	Orphanet:314679|OMIMPS:601390|DOID:0060238|GARD:0005456|UMLS:CN203783	ordo_malformation_syndrome	Van Maldergem Wetzburger Verloes syndrome|cerebro-facio-articular syndrome|Van Maldergem syndrome|cerebro-facio-articular syndrome of Van Maldergem	http://purl.obolibrary.org/obo/MONDO_0017813	Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.	UMLS:CN203783|ORPHA:314679|DOID:0060238
CL:0002122	B220-positive CD38-positive IgG-negative class switched memory B cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002122	A B220-positive CD38-positive IgG-negative memory B cell is a CD38-positive IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype B220-positive, CD38-positive, and IgG-negative.	
MONDO:0017814	primary bone lymphoma	biolink:Disease	mondo	Orphanet:314684|UMLS:C1332582|DOID:6759|SCTID:766935007|ICD10:C85,7|ICD10:C85.7|NCIT:C6620	ordo_disease	bone tissue lymphoma|lymphoma of bone|primary lymphoma of bone|lymphoma of the bone|primary lymphoma of the bone|lymphoma of bone tissue|bone lymphoma	http://purl.obolibrary.org/obo/MONDO_0017814	A rare non-Hodgkin lymphoma or even more rarely, a Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement. The femur, spine, and pelvic bones are the most commonly affected sites. The majority of patients present with bone pain in the affected area. A single bone or multiple skeletal sites may be involved. The prognosis is related to the cell type and the stage of the disease.	SNOMEDCT:766935007|DOID:6759|UMLS:C1332582|ORPHA:314684|NCIT:C6620
CL:0002121	CD24-negative CD38-negative IgG-negative class switched memory B cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002121	A CD24-negative CD38-negative IgG-negative memory B cell is a CD38-negative IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype CD24-negative, CD38-negative, and IgG-negative.	
UBERON:0002461	anterior abdominal wall muscle	biolink:AnatomicalEntity	mondo			ventral abdominal wall muscle|muscle of anterior abdominal wall	http://purl.obolibrary.org/obo/UBERON_0002461	Any skeletal muscle organ that is part of a anterior abdominal wall. Examples: the obliques, pyramidalis and transversus abdominus	
MONDO:0017815	acquired porencephaly	biolink:Disease	mondo	SCTID:38837006|ICD10:G93.0|UMLS:C0151860|Orphanet:314697	ordo_etiological_subtype	acquired porencephaly	http://purl.obolibrary.org/obo/MONDO_0017815	An instance of porencephaly that is acquired during the lifetime of the individual.	SNOMEDCT:38837006|UMLS:C0151860|ORPHA:314697
CL:0002123	B220-low CD38-positive IgG-negative class switched memory B cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002123	A B220-low CD38-positive IgG-negative memory B cell is a CD38-positive IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype B220-low, CD38-positive, and IgG-positive.	
MONDO:0017816	primary systemic amyloidosis	biolink:Disease	mondo	UMLS:C0268380|ICD10:E85.3|ICD10:E85.2|SCTID:89449005|ICD10:E85.1|ICD10:E85.0|Orphanet:314701|NCIT:C8299|UMLS:C0281479	ordo_clinical_subtype	systemic AL amyloidosis|systemic Immunoglobulin Light chain amyloidosis|systemic amyloidosis	http://purl.obolibrary.org/obo/MONDO_0017816	Primary systemic amyloidosis (PSA) is a form of AL amyloidosis caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by multiple organ involvement.	SNOMEDCT:89449005|UMLS:C0268380|NCIT:C8299|UMLS:C0281479|ORPHA:314701
UBERON:0002460	vesical vein	biolink:AnatomicalEntity	mondo			vesical veins set|venae vesicales|vesical veins	http://purl.obolibrary.org/obo/UBERON_0002460	A tributary of the iliac vein that drains the urinary bladder.	
GO:0061983	meiosis II cell cycle process	biolink:OntologyClass	mondo			second meiotic division	http://purl.obolibrary.org/obo/GO_0061983	A process that coontributes to the second meiotic division. The second meiotic division separates chromatids resulting in a haploid number of chromosomes.	
MONDO:0017810	variant ABeta2M amyloidosis	biolink:Disease	mondo	UMLS:CN203779|ICD10:E85.1|SCTID:722292000|Orphanet:314652|UMLS:C4302669	ordo_disease	autosomal dominant beta2-microglobulinic amyloidosis	http://purl.obolibrary.org/obo/MONDO_0017810	A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.	SNOMEDCT:722292000|UMLS:CN203779|ORPHA:314652|UMLS:C4302669
MONDO:0017811	severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	biolink:Disease	mondo	ICD10:Q93.5|Orphanet:314655|SCTID:768555009|UMLS:CN203780	ordo_clinical_subtype	monosomy 5q31.3|5q31.3 microdeletion syndrome|Del(5)(q31.3)	http://purl.obolibrary.org/obo/MONDO_0017811		UMLS:CN203780|SNOMEDCT:768555009|ORPHA:314655
MONDO:0017812	segmental progressive overgrowth syndrome with fibroadipose hyperplasia	biolink:Disease	mondo	UMLS:CN203781|Orphanet:314662	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017812		UMLS:CN203781|ORPHA:314662
GO:0071305	cellular response to vitamin D	biolink:OntologyClass	mondo			cellular response to ergocalciferol|cellular response to calciferol|cellular response to cholecalciferol	http://purl.obolibrary.org/obo/GO_0071305	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin D stimulus.	
UBERON:0002466	intestine secretion	biolink:AnatomicalEntity	mondo			intestinal juice|succus entericus|intestinal secretion	http://purl.obolibrary.org/obo/UBERON_0002466	Clear to pale yellow watery secretions from the glands lining the small intestine walls. Secretion is stimulated by the mechanical pressure of partly digested food in the intestine.	
UBERON:0002469	esophagus mucosa	biolink:AnatomicalEntity	mondo			esophagus mucosa|oesophagus mucosa|mucous membrane of esophagus|tunica mucosa esophagi|esophageal mucous membrane|oesophageal mucosa|lamina muscularis mucosae oesophageae|mucosa of esophagus|esophageal mucosa|tunica mucosa oesophagi|tunica mucosa oesophageae|oesophagus mucous membrane|muscularis mucosae of oesophagus|esophagus mucous membrane|tunica mucosa oesophagi|mucosa of oesophagus|mucous membrane of oesophagus	http://purl.obolibrary.org/obo/UBERON_0002469	A mucosa that is part of a esophagus [Automatically generated definition].	
MONDO:0005817	Kluver-Bucy syndrome	biolink:Disease	mondo	EFO:0007335|GARD:0006840|SCTID:10651001|MESH:D020232|MedDRA:10066431|NCIT:C84802|Orphanet:157823|DOID:2510	gard_rare|ordo_clinical_syndrome	post-encephalitic Kluver Bucy syndrome (type)|KLüver-Bucy syndrome|memory loss, extreme sexual behavior, placidity, and visual distractibility|Klver-Bucy syndrome|bilateral temporal lobe disorder|KLuever-Bucy syndrome|temporal lobectomy behavior syndrome|post-traumatic Kluver Bucy syndrome (type)|syndrome, Kluver-Bucy|Kluver Bucy syndrome	http://purl.obolibrary.org/obo/MONDO_0005817	Kluver Bucy syndrome is a rare behavioral impairment characterized byinappropriate sexual behaviors and mouthing of objects. Other signs and symptoms, includea diminished ability to visually recognize objects,loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. It is associated with damage to the anterior temporal lobes of the brain. Cases have been reported in association with herpes encephalitis and head trauma. Treatment is symptomatic and may include the use of psychotropic medications.	DOID:2510|ORPHA:157823|MESH:D020232|NCIT:C84802|MEDDRA:10066431|SNOMEDCT:10651001|UMLS:C0270707
NCBITaxon:455381	Capillariidae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_455381		
MONDO:0005816	obsolete Japanese encephalitis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005816		
MONDO:0005819	laryngeal tuberculosis	biolink:Disease	mondo	EFO:0007337|ICD10:A15.5|ICD9:012.3|MESH:D014387|SCTID:70341005|ICD9:012.30|NCIT:C26895|ICD9:012.32|DOID:1583|ICD9:012.31|UMLS:C0041315		larynx tuberculosis|tuberculous laryngitis	http://purl.obolibrary.org/obo/MONDO_0005819	Extrapulmonary tuberculosis involving the larynx. Signs and symptoms include hoarseness, cough, and odynophagia. The condition is rare.	SNOMEDCT:70341005|DOID:1583|NCIT:C26895|MESH:D014387|UMLS:C0041315
UBERON:0002465	lymphoid system	biolink:AnatomicalEntity	mondo			lymphatic circulatory system|lymphatic system|lymphatic drainage system|systema lymphoideum	http://purl.obolibrary.org/obo/UBERON_0002465	The lymphatic system in vertebrates is a network of conduits that carry a clear fluid called lymph. It also includes the lymphoid tissue through which the lymph travels. Lymphoid tissue is found in many organs, particularly the lymph nodes, and in the lymphoid follicles associated with the digestive system such as the tonsils. The system also includes all the structures dedicated to the circulation and production of lymphocytes, which includes the spleen, thymus, bone marrow and the lymphoid tissue associated with the digestive system[WP].	
CL:0002120	CD24-positive CD38-negative IgG-negative class switched memory B cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002120	An CD24-positive CD38-negative IgG-negative memory B cell is a CD38-negative IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype CD24-positive, CD38-negative, and IgG-negative.	
MONDO:0005818	obsolete Langerhans cell sarcoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005818		
MONDO:0005835	Lynch syndrome	biolink:Disease	mondo	MedDRA:10051981|SCTID:716318002|NCIT:C8494|DOID:3883|ICD10:D48.9|Orphanet:144|EFO:0007354	clingen|ordo_disease	hereditary nonpolyposis colorectal neoplasm|Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)|hereditary non-polyposis colon cancer type 1|Hereditary colorectal endometrial cancer syndrome|hereditary nonpolyposis colorectal cancer|HNPCC - hereditary nonpolyposis colon cancer|hereditary defective mismatch repair syndrome|coca 1|familial non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)|Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)	http://purl.obolibrary.org/obo/MONDO_0005835	An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present.	MESH:D003123|ORPHA:144|SNOMEDCT:716318002|UMLS:C1333990|NCIT:C8494|MEDDRA:10051981|DOID:3883
MONDO:0005834	lymphogranuloma venereum	biolink:Disease	mondo	EFO:0007353|ICD10:A55|SCTID:186946009|ICD9:099.1|UMLS:C0024286|DOID:13819|COHD:194287|NCIT:C26822|MESH:D008219|GARD:0009545	gard_rare	lymphogranuloma inguinale|Durand-Nicolas-Favre disease|strumous bubo|lymph granuloma inguinale|LGV|Poradenitis inguinale|climatic or tropical bubo	http://purl.obolibrary.org/obo/MONDO_0005834	Infection with the organism Mycobacterium.	NCIT:C26822|SNOMEDCT:186946009|MESH:D008219|UMLS:C0024286|DOID:13819
MONDO:0005837	mandibular cancer	biolink:Disease	mondo	DOID:2338|SCTID:448668007|COHD:40490993|MESH:D008339|ICD9:170.1|NCIT:C35178|EFO:0007356|ICD10:C41.1		neoplasm of mandible|mandibular neoplasm|malignant neoplasm of mandible|malignant mandible neoplasm|malignant neoplasm of lower jaw bone|cancer of mandible|mandible cancer|malignant neoplasm of inferior maxilla	http://purl.obolibrary.org/obo/MONDO_0005837	A malignant neoplasm involving the mandible	NCIT:C35178|SNOMEDCT:448668007|MESH:D008339|DOID:2338
MONDO:0005836	male reproductive organ cancer	biolink:Disease	mondo	ICD10:C60-C63|NCIT:C8561|DOID:3856|ICD10:C63.9|MESH:D005834|SCTID:363515000|ICD9:187.9|EFO:0007355|ICD9:187.8		malignant neoplasm of male reproductive organ|Male reprod. system cancer, NOS|malignant tumor of male genital organ|malignant tumor of Male reproductive system|malignant Male reproductive system neoplasm|malignant tumor of the Male reproductive system|malignant neoplasm of male genital organs|male genital cancer|male reproductive organ cancer|malignant neoplasm of male genital organ, site unspecified|malignant neoplasm of Male reproductive system|male genital neoplasm|neoplasm of male genital organ|malignant neoplasm of the Male reproductive system|malignant Male reproductive system tumor|malignant male reproductive organ neoplasm|cancer of male reproductive organ|male reproductive system neoplasm|malignant neoplasm of male genital organ, NOS|tumor of male reproductive system|malignant neoplasm of male genital organ|malignant tumor of male reproductive system|malignant neoplasm of male genital organ or tract|Male reproductive system cancer, NOS	http://purl.obolibrary.org/obo/MONDO_0005836	A primary or metastatic malignant neoplasm involving the male reproductive system. Representative examples include prostate carcinoma, penile carcinoma, testicular seminoma, and testicular embryonal carcinoma.	MESH:D005834|SNOMEDCT:363515000|NCIT:C8561|DOID:3856
GO:1900426	positive regulation of defense response to bacterium	biolink:OntologyClass	mondo			up-regulation of defence response to bacterium|up-regulation of antibacterial peptide activity|up-regulation of defense response to bacterium|upregulation of defence response to bacteria|upregulation of defense response to bacteria|positive regulation of defense response to bacterium, incompatible interaction|activation of resistance response to pathogenic bacterium|up regulation of defense response to bacterium|up regulation of defence response to bacterium|positive regulation of defence response to bacteria|positive regulation of defense response to bacteria|activation of defense response to bacterium|positive regulation of defence response to bacterium|up regulation of defence response to bacteria|up regulation of defense response to bacteria|activation of antibacterial peptide activity|upregulation of antibacterial peptide activity|upregulation of defense response to bacterium|up-regulation of defence response to bacteria|up-regulation of defense response to bacteria|upregulation of defence response to bacterium|activation of defence response to bacterium|positive regulation of antibacterial peptide activity|activation of resistance response to pathogenic bacteria|up regulation of antibacterial peptide activity|activation of defense response to bacteria|activation of defence response to bacteria	http://purl.obolibrary.org/obo/GO_1900426	Any process that activates or increases the frequency, rate or extent of defense response to bacterium.	
MONDO:0005831	lymph node tuberculosis	biolink:Disease	mondo	EFO:0007350|ICD10:A18.2|SCTID:10893003|DOID:4889|NCIT:C26896|MESH:D014388		lymph node tuberculosis|tuberculous lymphadenopathy|tuberculous adenitis|king's evil|scrofula	http://purl.obolibrary.org/obo/MONDO_0005831	Tuberculosis of the lymph node.	SNOMEDCT:10893003|MESH:D014388|DOID:4889|NCIT:C26896
GO:1900425	negative regulation of defense response to bacterium	biolink:OntologyClass	mondo			downregulation of defence response to bacterium|downregulation of defense response to bacterium|downregulation of antibacterial peptide activity|down-regulation of defense response to bacteria|down-regulation of defence response to bacteria|inhibition of defence response to pathogenic bacteria, incompatible interaction|negative regulation of defense response to bacteria|negative regulation of defence response to bacteria|inhibition of defense response to bacterium|inhibition of defense response to bacterium, incompatible interaction|inhibition of defence response to pathogenic bacterium, incompatible interaction|inhibition of resistance response to pathogenic bacteria|inhibition of response to pathogenic bacterium (incompatible interaction)|inhibition of response to pathogenic bacteria (incompatible interaction)|inhibition of defense response to bacteria|inhibition of defence response to bacteria|down regulation of antibacterial peptide activity|negative regulation of defense response to bacterium, incompatible interaction|inhibition of defence response to bacterium|down-regulation of antibacterial peptide activity|negative regulation of antibacterial peptide activity|down-regulation of defence response to bacterium|downregulation of defence response to bacteria|negative regulation of defence response to bacterium|downregulation of defense response to bacteria|down-regulation of defense response to bacterium|inhibition of antibacterial peptide activity|down regulation of defense response to bacterium|down regulation of defence response to bacterium|inhibition of resistance response to pathogenic bacterium|down regulation of defence response to bacteria|down regulation of defense response to bacteria	http://purl.obolibrary.org/obo/GO_1900425	Any process that stops, prevents or reduces the frequency, rate or extent of defense response to bacterium.	
HGNC:9251	CTSA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9251		
MONDO:0005830	lumpy skin disease	biolink:Disease	mondo	MESH:D008166|EFO:0007349|UMLS:C0024106			http://purl.obolibrary.org/obo/MONDO_0005830	A poxvirus infection of cattle characterized by the appearance of nodules on all parts of the skin.	MESH:D008166|UMLS:C0024106
MONDO:0005833	lymphatic system disease	biolink:Disease	mondo	EFO:0007352|MESH:D008206|SCTID:362971004|DOID:75|NCIT:C50764|UMLS:C0024228		lymphatic disease|swollen gland|lymphatic part of lymphoid system disease|disorder of lymphatic part of lymphoid system|disease of lympoid system|disorder of lymph node and lymphatics|disease or disorder of lymphatic part of lymphoid system|disorder of lymphatic system|lymphangiopathy|glands, swollen|lymphadenopathy|disorder of lymphoid system|disease of lymphatic part of lymphoid system|swollen glands|lymphatic part of lymphoid system disease or disorder|lymphangiopathy, NOS|lympoid system disease|adenopathy|disorder of lymphatic part of lymphoid system|lymphatic disorder	http://purl.obolibrary.org/obo/MONDO_0005833	A disease involving the lymphatic part of lymphoid system.	DOID:75|SNOMEDCT:362971004|MESH:D008206|UMLS:C0024228|NCIT:C50764
MONDO:0005832	lymphangitis	biolink:Disease	mondo	COHD:439840|EFO:0007351|UMLS:C0024225|ICD9:457.2|NCIT:C34790|SCTID:1415005|MESH:D008205|ICD10:I89.1|DOID:9317		lymphatic vessel inflammation|inflammation of lymphatic vessel	http://purl.obolibrary.org/obo/MONDO_0005832	Inflammation of the lymphatic vessels.	MESH:D008205|NCIT:C34790|UMLS:C0024225|SNOMEDCT:1415005|DOID:9317
GO:1900424	regulation of defense response to bacterium	biolink:OntologyClass	mondo			regulation of antibacterial peptide activity|regulation of resistance response to pathogenic bacterium|regulation of defence response to pathogenic bacterium, incompatible interaction|regulation of resistance response to pathogenic bacteria|regulation of defence response to pathogenic bacteria, incompatible interaction|regulation of defense response to bacterium, incompatible interaction|regulation of defence response to bacterium, incompatible interaction|regulation of defence response to bacteria|regulation of defense response to bacteria|regulation of defence response to bacterium	http://purl.obolibrary.org/obo/GO_1900424	Any process that modulates the frequency, rate or extent of defense response to bacterium.	
MONDO:0017802	ovarian fibrothecoma	biolink:Disease	mondo	ICD10:D27|SCTID:765190005|UMLS:CN203762|Orphanet:314478	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017802	10cm) are often associated with pleural effusion and ascytes (the Meig's syndrome triad).	UMLS:CN203762|SNOMEDCT:765190005|ORPHA:314478
MONDO:0017803	primary progressive apraxia of speech	biolink:Disease	mondo	UMLS:CN203766|Orphanet:314566	ordo_disease	PPAOS	http://purl.obolibrary.org/obo/MONDO_0017803		UMLS:CN203766|ORPHA:314566
MONDO:0017804	autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome	biolink:Disease	mondo	Orphanet:314572|UMLS:CN203767	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017804	Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome is a rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures.	UMLS:CN203767|ORPHA:314572
MONDO:0017805	intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome	biolink:Disease	mondo	Orphanet:314575|UMLS:CN203768	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0017805		UMLS:CN203768|ORPHA:314575
MONDO:0017800	pseudo-Meigs syndrome	biolink:Disease	mondo	UMLS:CN203759|Orphanet:314459|ICD10:D27	ordo_clinical_syndrome	pseudo-Demons-Meigs syndrome	http://purl.obolibrary.org/obo/MONDO_0017800		UMLS:CN203759|ORPHA:314459
CL:0002139	endothelial cell of vascular tree	biolink:Cell	mondo	BTO:0001854|FMA:67755|CALOHA:TS-1106		vascular endothelial cell|cubodial endothelial cell of vascular tree	http://purl.obolibrary.org/obo/CL_0002139	An endothelial cell of the vascular tree, which includes blood vessels and lymphatic vessels.	
CL:0002138	endothelial cell of lymphatic vessel	biolink:Cell	mondo	BTO:0004167|FMA:68458		LEC|lymphatic endothelial cell	http://purl.obolibrary.org/obo/CL_0002138	A endothelial cell of a lymphatic vessel. The border of the oak leaf-shaped endothelial cell of initial lymphatics are joined by specialized buttons. The discontinuous feature of buttons distinguishes them from zippers in collecting lymphatics, but both types of junctions are composed of proteins typical of adherens junctions and tight junctions found in the endothelium of blood vessels. Buttons seal the sides of flaps of the oak leaf-shaped endothelial cell, leaving open the tips of flaps as routes for fluid entry without disassembly and reformation of intercellular junctions.	
MONDO:0017801	atypical Meigs syndrome	biolink:Disease	mondo	ICD10:D27|UMLS:CN203760|Orphanet:314466	ordo_clinical_syndrome	atypical Demons-Meigs syndrome|incomplete Meigs syndrome	http://purl.obolibrary.org/obo/MONDO_0017801		UMLS:CN203760|ORPHA:314466
UBERON:0002456	internal thoracic artery	biolink:AnatomicalEntity	mondo			arteria thoracica interna|mammary artery|internal thoracic mammary artery|arteria mammaria interna|internal mammary artery	http://purl.obolibrary.org/obo/UBERON_0002456	An artery that supplies the anterior chest wall and the breasts. It is a paired artery, with one running along each side of the sternum, to continue after its bifurcation as the superior epigastric and musculophrenic arteries. [WP,unvetted].	
HGNC:9255	PPIB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9255		
UBERON:0002458	spinal artery	biolink:AnatomicalEntity	mondo			spinal arteries	http://purl.obolibrary.org/obo/UBERON_0002458	Arteries that supply the spinal cord.	
MONDO:0030840	mismatch repair cancer syndrome 2	biolink:Disease	mondo	OMIM:619096		MMRCS2|mismatch repair cancer syndrome 2	http://purl.obolibrary.org/obo/MONDO_0030840		http://identifiers.org/omim/619096
UBERON:0002457	intersomitic artery	biolink:AnatomicalEntity	mondo			intersegmental arteries|intersegmental artery	http://purl.obolibrary.org/obo/UBERON_0002457	The small branching sprouts of the dorsal aorta that grow across the medial surface of the somite, turn right angles to grow over that surface and then fuse with other sprouts and form the vertebral arteries adjacent to the neural tube; the intersomitic arteries supply the body wall and persist in the adult as the posterior intercostal, subcostal and the lumbar arteries	
MONDO:0005828	listeriosis	biolink:Disease	mondo	UMLS:C0023860|DOID:11573|NCIT:C82994|COHD:438059|GARD:0006915|ICD10:A32.8|ICD10:A32|ICD10:A32.7|MESH:D008088|ICD10:A32.9|MedDRA:10024641|ICD9:027.0|ICD10:A32.1|ICD10:A32.0|EFO:0007347|Orphanet:533	ordo_disease	Listeria monocytogenes infectious disease|Listeria monocytogenes caused disease or disorder|Listeria monocytogenes disease or disorder|Listeria infection|Listeria monocytogenes infection|infection by Listeria monocytogenes	http://purl.obolibrary.org/obo/MONDO_0005828	A bacterial infection caused by Listeria monocytogenes. It occurs in newborns, elderly, and immunocompromised patients. The bacteria are transmitted through ingestion of contaminated food. Clinical manifestations include fever, muscle pain, respiratory distress, nausea, diarrhea, neck stiffness, irritability, seizures, and lethargy.	UMLS:C0023860|DOID:11573|MEDDRA:10024641|NCIT:C82994|MESH:D008088|ORPHA:533
MONDO:0005827	lipoatrophic diabetes	biolink:Disease	mondo	DOID:11712|NCIT:C34537|MESH:D003923|EFO:0007346		lipoatrophic diabetes mellitus|lipoatrophic diabetes|diabetes, lipoatrophic|Diabete, lipoatrophic|lipoatrophic Diabete	http://purl.obolibrary.org/obo/MONDO_0005827	A rare syndrome characterized by almost complete absence of body fat, accentuated muscularity, insulin-resistant diabetes, hyperlipidemia, hepatomegaly, and hypermetabolism.	DOID:11712|MESH:D003923|NCIT:C34537
UBERON:0002451	endometrial gland	biolink:AnatomicalEntity	mondo			glandulae uterinae|endometrial mucuous gland|endometrial gland|endometrium gland|glandulae uterinae|uterine gland	http://purl.obolibrary.org/obo/UBERON_0002451	The mucous secreting gland associated with the mucuous membrane lining the uterus.	
MONDO:0005829	louping ill	biolink:Disease	mondo	MESH:D008146|DOID:10250|EFO:0007348|ICD10:A84.8|ICD9:063.1|UMLS:C0024025		Louping ill	http://purl.obolibrary.org/obo/MONDO_0005829	An acute tick-borne arbovirus infection causing meningoencephalomyelitis of sheep.	DOID:10250|MESH:D008146|UMLS:C0024025
UBERON:0002453	ethmoid sinus	biolink:AnatomicalEntity	mondo			ethmoidal air cell|ethmoidal bone sinus|cellulae ethmoidales|ethmoidal sinus	http://purl.obolibrary.org/obo/UBERON_0002453	the evaginations of the mucous membrane of the nasal cavity into the ethmoidal bony labyrinth, forming multiple small paranasal sinuses	
OBO:chebi#has_functional_parent	has functional parent	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/chebi#has_functional_parent		
MONDO:0003227	prosopagnosia (disease)	biolink:Disease	mondo	DOID:4970|ICD10:R48.3|HP:0010528|NCIT:C85031		prosopagnosia|face blindness	http://purl.obolibrary.org/obo/MONDO_0003227	Impaired ability to recognize other human faces in the absence of a vision disorder. It may be a congenital disorder or the result of brain injury.	DOID:4970|NCIT:C85031
MONDO:0005889	orthomyxoviridae infectious disease	biolink:Disease	mondo	MESH:D009976|EFO:0007411		Orthomyxoviridae caused disease or disorder|Orthomyxoviridae disease or disorder|Orthomyxoviridae infectious disease	http://purl.obolibrary.org/obo/MONDO_0005889	Virus diseases caused by the orthomyxoviridae.	MESH:D009976
MONDO:0003228	obsolete myelodysplastic/myeloproliferative neoplasm	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003228		
MONDO:0003229	obsolete lymphedema	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003229		
MONDO:0003223	meninges hemangiopericytoma	biolink:Disease	mondo	SCTID:277522009|NCIT:C4660|ONCOTREE:HPCCNS|UMLS:C0349622|DOID:4957		hemangiopericytoma of the meninges|hemangiopericytoma of the central nervous system|meningeal hemangiopericytoma|meningeal cluster spindle cell tumor|meningeal solitary fibrous tumor/hemangiopericytoma|meningeal cluster hemangiopericytoma|meninges hemangiopericytoma|hemangiopericytoma of meninges	http://purl.obolibrary.org/obo/MONDO_0003223	A solitary fibrous tumor/hemangiopericytoma that arises from the meninges.	DOID:4957|UMLS:C0349622|SNOMEDCT:277522009|NCIT:C4660
MONDO:0005886	oral candidiasis	biolink:Disease	mondo	MESH:D002180|ICD10:B37.9|SCTID:79740000|COHD:29735|DOID:14262|ICD9:112.0|NCIT:C28137|ICD10:B37.0|UMLS:C0006849|EFO:0007406		thrush|candidiasis of mouth|oral moniliasis|thrush, oral|mouth candidiasis	http://purl.obolibrary.org/obo/MONDO_0005886	Infection of the mucosal lining of the mouth with the fungus Candida albicans.	NCIT:C28137|UMLS:C0006849|SNOMEDCT:79740000|MESH:D002180|DOID:14262
MONDO:0005885	optic neuritis	biolink:Disease	mondo	NCIT:C84950|MESH:D009902|ICD9:377.3|ICD9:377.39|ICD10:H46|ICD9:377.30|GARD:0007320|COHD:374954|DOID:1210|ICD10:H46.9|SCTID:66760008|EFO:0007405	gard_rare		http://purl.obolibrary.org/obo/MONDO_0005885	Optic neuritis is inflammation of the optic nerve, the nerve that carries the visual signal from the eye to the brain.The conditionmay cause sudden, reduced vision in the affected eye(s). While the cause of optic neuritis is unknown, it has been associated with autoimmune diseases, infections, multiple sclerosis, drug toxicity and deficiency of vitamin B-12. Vision often returns to normal within 2-3 weeks without treatment. In some cases, corticosteroids are given to speed recovery. If known, the underlying cause should be treated.	DOID:1210|SNOMEDCT:66760008|NCIT:C84950|MESH:D009902
MONDO:0003224	obsolete spindle cell hemangioma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003224		
MONDO:0003225	bone marrow disease	biolink:Disease	mondo	UMLS:C0005956|ICD9:289.9|DOID:4961|SCTID:127035006|MESH:D001855|NCIT:C34433		disease of bone marrow|bone marrow disease or disorder|bone marrow disorder|disorder of bone marrow|disorder of bone marrow|disease or disorder of bone marrow|bone marrow disease	http://purl.obolibrary.org/obo/MONDO_0003225	Any disease of the bone marrow.	MESH:D001855|NCIT:C34433|DOID:4961|UMLS:C0005956|SNOMEDCT:127035006
MONDO:0005888	ornithosis	biolink:Disease	mondo	NCIT:C34873|MESH:D009956|SCTID:75116005|EFO:0007410|ICD9:073|ICD9:073.9|UMLS:C0029291|DOID:11262|GARD:0007492|ICD10:A70		psittacosis	http://purl.obolibrary.org/obo/MONDO_0005888	Disease caused by the Chlamydophila psittaci bacteria, usually transmitted from birds to humans.	MESH:D009956|NCIT:C34873|SNOMEDCT:75116005|DOID:11262|UMLS:C0029291
MONDO:0005887	oral tuberculosis	biolink:Disease	mondo	UMLS:C0041323|MESH:D014393|ICD9:528.9|ICD9:017.90|SCTID:235067001|DOID:402|EFO:0007407			http://purl.obolibrary.org/obo/MONDO_0005887	Tuberculosis of the mouth, tongue, and salivary glands.	UMLS:C0041323|MESH:D014393|DOID:402|SNOMEDCT:235067001
MONDO:0003226	obsolete Nelson syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003226		
MONDO:0005882	obsolete onchocerciasis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005882		
CL:0002108	CD38-negative IgG memory B cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002108	A CD38-negative IgG memory B cell is a IgG-positive class switched memory B cell that has class switched and expresses IgG on the cell surface with the phenotype CD38-negative, IgD-negative, and IgG-positive.	
MONDO:0005881	oligohydramnios (disease)	biolink:Disease	mondo	DOID:12215|EFO:0007401|MESH:D016104|HP:0001562|SCTID:59566000|ICD10:O41.00|ICD9:658.0|ICD9:658.00|ICD10:O41.0		antepartum oligohydramnios|oligohydramnios|delivered oligohydramnios|oligohydramnios - delivered	http://purl.obolibrary.org/obo/MONDO_0005881	A lower than normal quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of less than 5 cm or a single maximum vertical pocket (MVP) of less than 2 cm.	DOID:12215|MESH:D016104|SNOMEDCT:59566000|NCIT:C92839
MONDO:0003220	gallbladder carcinoma	biolink:Disease	mondo	UMLS:C0235782|EFO:1001956|DOID:4948|NCIT:C3844|SCTID:372140005		carcinoma gallbladder|gallbladder carcinoma|cancer of the gallbladder|Gall bladder carcinoma (adenocarcinoma)|carcinoma of the gallbladder|carcinoma of gallbladder|cancer of gallbladder|carcinoma of gall bladder|gall bladder carcinoma|Gall bladder carcinoma (adeno)|gallbladder cancer	http://purl.obolibrary.org/obo/MONDO_0003220	A carcinoma that arises from epithelial cells of the gall bladder	DOID:4948|UMLS:C0235782|NCIT:C3844|SNOMEDCT:372140005
CL:0002107	IgD-negative CD38-positive IgG memory B cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002107	An IgD-negative CD38-positive IgG memory B cell is a CD38-positive IgG-positive that has class switched and lacks expression of IgD on the cell surface with the phenotype IgD-negative, CD38-positive, and IgG-positive.	
MONDO:0005884	opisthorchiasis	biolink:Disease	mondo	GARD:0009746|ICD9:121.0|MESH:D009889|SCTID:1059007|UMLS:C0029106|DOID:13768|ICD10:B66.0|EFO:0007404	gard_rare	infection due to Opisthorchis (felineus)(viverrini)|infection due to cat liver fluke|infection by Opisthorchis	http://purl.obolibrary.org/obo/MONDO_0005884	Infection with flukes of the genus Opisthorchis.	DOID:13768|UMLS:C0029106|SNOMEDCT:1059007|MESH:D009889
MONDO:0003221	obsolete sclerosing hemangioma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003221		
MONDO:0003222	central nervous system melanocytic neoplasm	biolink:Disease	mondo	EFO:1000493|UMLS:C1332887|SCTID:277523004|NCIT:C5504|DOID:4955		melanocytic tumor of central nervous system|melanocytic tumor of the CNS|melanocytic tumor of the central nervous system|central nervous system primary melanocytic lesion|melanocytic tumor of CNS|CNS melanocytic neoplasm|primary melanocytic lesion of meninges|primary melanocytic lesions of the CNS|melanocytic neoplasm of the CNS|melanocytic neoplasm of CNS|CNS melanocytic tumor|central nervous system melanocytic tumor|melanocytic neoplasm of central nervous system|central nervous system melanocytic neoplasms|melanocytic neoplasm of the central nervous system|central nervous system melanocytic neoplasm	http://purl.obolibrary.org/obo/MONDO_0003222	A primary tumor of the central nervous system that arises from leptomeningeal melanocytes. It may present as a diffuse proliferative leptomeningeal process (often as a component of the neurocutaneous melanosis complex) or as a distinct mass lesion.	DOID:4955|SNOMEDCT:277523004|NCIT:C5504|UMLS:C1332887
MONDO:0005883	ophthalmic herpes zoster	biolink:Disease	mondo	EFO:0007403|ICD9:053.29|COHD:372828|UMLS:C0019364|GARD:0009721|MESH:D006563|SCTID:87513003		Herpes zoster ophthalmicus (HZO)|herpes zoster ophthalmicus|HZO	http://purl.obolibrary.org/obo/MONDO_0005883	Virus infection of the Gasserian ganglion and its nerve branches characterized by pain and vesicular eruptions with much swelling. Ocular involvement is usually heralded by a vesicle on the tip of the nose. This area is innervated by the nasociliary nerve.	UMLS:C0019364|MESH:D006563|SNOMEDCT:87513003
CL:0002109	B220-positive CD38-positive naive B cell	biolink:Cell	mondo			B220+CD38+ naive B cell|CD38+B220+ naive B cell|B220-positive CD38-positive naive B-cell|B220+CD38+ naive B-cell|CD38+B220+ naive B-cell|B220+CD38+ naive B lymphocyte|CD38+B220+ naive B lymphocyte|B220-positive CD38-positive naive B lymphocyte|CD38+B220+ naive B-lymphocyte|B220-positive CD38-positive naive B-lymphocyte|B220+CD38+ naive B-lymphocyte	http://purl.obolibrary.org/obo/CL_0002109	A B220-positive CD38-positive naive B cell is a CD38-positive naive B cell that has the phenotype B220-positive, CD38-positive, surface IgD-positive, surface IgM-positive, and CD27-negative, and that has not yet been activated by antigen in the periphery.	
HP:0031064	Impaired continence	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0031064	Partial or total incontinence of bowel or bladder.	
MONDO:0005880	oesophagostomiasis	biolink:Disease	mondo	EFO:0007400|SCTID:22500005|UMLS:C0028887|MESH:D009814|DOID:3983|ICD9:127.7		infection by Oesophagostomum|Oesophagostomum disease or disorder|Oesophagostomum infectious disease|Oesophagostomum caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005880	Infection of the intestinal tract with worms of the genus oesophagostomum. This condition occurs mainly in animals other than humans.	DOID:3983|SNOMEDCT:22500005|UMLS:C0028887|MESH:D009814
GO:0046364	monosaccharide biosynthetic process	biolink:OntologyClass	mondo			monosaccharide formation|monosaccharide anabolism|monosaccharide biosynthesis|monosaccharide synthesis	http://purl.obolibrary.org/obo/GO_0046364	The chemical reactions and pathways resulting in the formation of monosaccharides, polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms.	
MONDO:0017879	hantavirus pulmonary syndrome	biolink:Disease	mondo	MESH:D018804|GARD:0000069|UMLS:C0243025|DOID:14472|SCTID:120639003|MedDRA:10019143|ICD10:J17.1*|Orphanet:319247|NCIT:C84747|EFO:0007296|ICD9:480.8|ICD10:B33.4+	ordo_disease|gard_rare	four corners hantavirus|Hantavirus|HARDS|Hantavirus-associated respiratory distress syndrome	http://purl.obolibrary.org/obo/MONDO_0017879	An infection caused by Hantaviruses. It manifests with flu-like symptoms but it rapidly progresses to life-threatening respiratory problems.	DOID:14472|MESH:D018804|UMLS:C0243025|ORPHA:319247|NCIT:C84747|MEDDRA:10019143|SNOMEDCT:120639003
MONDO:0015216	syndromic diaphragmatic or abdominal wall malformation	biolink:Disease	mondo	UMLS:CN226633|Orphanet:108979	ordo_group_of_disorders	syndromic diaphragmatic or abdominal wall malformation|syndrome associated with diaphragmatic or abdominal wall malformation|syndrome associated with diaphragmatic or abdominal wall malformation	http://purl.obolibrary.org/obo/MONDO_0015216	A diaphragmatic or abdominal wall malformation that is part of a larger syndrome.	ORPHA:108979|UMLS:CN226633
MONDO:0015215	non-syndromic diaphragmatic or abdominal wall malformation	biolink:Disease	mondo	Orphanet:108977	ordo_group_of_disorders	isolated diaphragmatic or abdominal wall malformation|nonsyndromic diaphragmatic or abdominal wall malformation|isolated diaphragmatic or abdominal wall malformation	http://purl.obolibrary.org/obo/MONDO_0015215	A diaphragmatic or abdominal wall malformation that is not part of a larger syndrome.	ORPHA:108977
MONDO:0015214	syndromic visceral malformation	biolink:Disease	mondo	UMLS:CN226631|Orphanet:108973	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015214		ORPHA:108973|UMLS:CN226631
CL:0002102	CD38-negative naive B cell	biolink:Cell	mondo			CD38- naive B cell|CD38- naive B-cell|CD38- naive B lymphocyte|CD38- naive B-lymphocyte|CD38-negative naive B-cell|CD38-negative naive B lymphocyte|CD38-negative naive B-lymphocyte	http://purl.obolibrary.org/obo/CL_0002102	A CD38-negative naive B cell is a mature B cell that has the phenotype CD38-negative, surface IgD-positive, surface IgM-positive, and CD27-negative, that has not yet been activated by antigen in the periphery.	
CL:0002101	CD38-positive naive B cell	biolink:Cell	mondo			CD38+ naive B cell|CD38-positive naive B-lymphocyte|CD38+ naive B-cell|CD38+ naive B lymphocyte|CD38+ naive B-lymphocyte|CD38-positive naive B-cell|CD38-positive naive B lymphocyte	http://purl.obolibrary.org/obo/CL_0002101	A CD38-positive naive B cell is a mature B cell that has the phenotype CD38-positive, surface IgD-positive, surface IgM-positive, and CD27-negative, and that has not yet been activated by antigen in the periphery.	
MONDO:0015213	non-syndromic visceral malformation	biolink:Disease	mondo	Orphanet:108971	ordo_group_of_disorders	isolated visceral malformation|nonsyndromic visceral malformation	http://purl.obolibrary.org/obo/MONDO_0015213		ORPHA:108971
CL:0002104	IgG-negative double negative memory B cell	biolink:Cell	mondo			IgG-negative double negative memory B lymphocyte|IgG- double negative memory B cell|IgG-negative double negative memory B-lymphocyte|IgG- dn memory B cell|IgG- double negative memory B-cell|IgG- double negative memory B lymphocyte|IgG- dn memory B-cell|IgG- dn memory B lymphocyte|IgG- double negative memory B-lymphocyte|IgG-negative dn memory B cell|IgG- dn memory B-lymphocyte|IgG-negative dn memory B-cell|IgG-negative dn memory B lymphocyte|IgG-negative double negative memory B-cell|IgG-negative dn memory B-lymphocyte	http://purl.obolibrary.org/obo/CL_0002104	An IgG-negative double negative memory B cell is a double negative memory B cell with the phenotype IgG-negative, IgD-negative, and CD27-negative.	
MONDO:0017875	Bolivian hemorrhagic fever	biolink:Disease	mondo	Orphanet:319229|SCTID:67247008|DOID:0050195|MedDRA:10005932|UMLS:C0282192|ICD10:A96.1	ordo_disease	Machupo hemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0017875	Bolivian hemorrhagic fever (BHF), caused by the Machupo virus (MACV), is a severe acute viral hemorrhagic fever characterized by fever, myalgia, and arthralgia followed by hemorrhagic and neurological manifestations.	MEDDRA:10005932|SNOMEDCT:67247008|ORPHA:319229|UMLS:C0282192|DOID:0050195
CL:0002103	IgG-positive double negative memory B cell	biolink:Cell	mondo			IgG+ dn memory B cell|IgG+ double negative memory B cell|IgG-positive dn memory B-lymphocyte|IgG+ dn memory B-cell|IgG+ dn memory B lymphocyte|IgG+ double negative memory B-cell|IgG+ double negative memory B lymphocyte|IgG+ dn memory B-lymphocyte|IgG+ double negative memory B-lymphocyte|IgG-positive double negative memory B-cell|IgG-positive dn memory B cell|IgG-positive double negative memory B lymphocyte|IgG-positive double negative memory B-lymphocyte|IgG-positive dn memory B-cell|IgG-positive dn memory B lymphocyte	http://purl.obolibrary.org/obo/CL_0002103	An IgG-positive double negative memory B cell is a double negative memory B cell with the phenotype IgG-positive, IgD-negative, and CD27-negative.	
MONDO:0017876	Venezuelan hemorrhagic fever	biolink:Disease	mondo	DOID:0050196|UMLS:C0042470|SCTID:359673001|Orphanet:319234|ICD10:A96.8	ordo_disease	Guanarito hemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0017876	Venezuelan hemorrhagic fever (VHF), caused by the Guanarito virus, is a viral hemorrhagic disease characterized by fever, headache, arthralgia, sore throat, convulsions, and hemorrhagic manifestations.	SNOMEDCT:359673001|ORPHA:319234|UMLS:C0042470|DOID:0050196
MONDO:0015219	non-syndromic central nervous system malformation	biolink:Disease	mondo	Orphanet:108989	ordo_group_of_disorders	isolated central nervous system malformation|nonsyndromic central nervous system malformation|isolated central nervous system malformation	http://purl.obolibrary.org/obo/MONDO_0015219	A central nervous system malformation that is not part of a larger syndrome.	ORPHA:108989
MONDO:0015218	syndromic developmental defect of the eye	biolink:Disease	mondo	Orphanet:108987|UMLS:CN226635	ordo_group_of_disorders	syndrome associated with developmental defect of the eye|syndromic developmental defect of the eye|syndrome associated with developmental defect of the eye	http://purl.obolibrary.org/obo/MONDO_0015218	A developmental defect of the eye that is part of a larger syndrome.	UMLS:CN226635|ORPHA:108987
MONDO:0017877	Brazilian hemorrhagic fever	biolink:Disease	mondo	UMLS:C0343633|DOID:0050197|Orphanet:319239|ICD10:A96.8|SCTID:240524001	ordo_disease	Sabia hemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0017877	Brazilian hemorrhagic fever, caused by the Sabia virus (a newly discovered arenavirus), is a viral hemorrhagic fever, believed to originate from Sao Paulo, Brazil, with only 3 reported cases (2 of which were due to laboratory accidents) to date, characterized by fever, nausea vomiting myalgia tremors, and hemorragic manifestations such as conjunctival petechia and haematemesis, leading potentially to shock, coma and death.	UMLS:C0343633|ORPHA:319239|SNOMEDCT:240524001|DOID:0050197
CL:0002106	IgD-positive CD38-positive IgG memory B cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002106	An IgD-positive CD38-positive IgG memory B cell is a CD38-positive IgG-positive class switched memory B cell that has class switched and expresses IgD on the cell surface with the phenotype IgD-positive, CD38-positive, and IgG-positive.	
MONDO:0017878	Chapare hemorrhagic fever	biolink:Disease	mondo	UMLS:C4274434|DOID:0050198|UMLS:CN203927|Orphanet:319244|ICD10:A96.8|SCTID:716584007	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017878	Chapare hemorrhagic fever, caused by the Chapare virus (a new arenavirus), discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004, is an acute viral hemorrhagic fever characterized by fever, myalgia, arthralgia, and multiple hemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death (in one case). No other cases have been reported since.	SNOMEDCT:716584007|ORPHA:319244|UMLS:CN203927|UMLS:C4274434|DOID:0050198
CL:0002105	CD38-positive IgG memory B cell	biolink:Cell	mondo			CD38+ IgG memory B-lymphocyte|CD38-positive IgG memory B-cell|CD38-positive IgG memory B lymphocyte|CD38-positive IgG memory B-lymphocyte|CD38+ IgG memory B cell|CD38+ IgG memory B-cell|CD38+ IgG memory B lymphocyte	http://purl.obolibrary.org/obo/CL_0002105	A CD38-positive IgG memory B cell is a class switched memory B cell that expresses IgG on the cell surface with the phenotype CD38-positive and IgG-positive.	
MONDO:0015217	non-syndromic developmental defect of the eye	biolink:Disease	mondo	Orphanet:108985	ordo_group_of_disorders	nonsyndromic developmental defect of the eye|isolated developmental defect of the eye|isolated developmental defect of the eye	http://purl.obolibrary.org/obo/MONDO_0015217	A developmental defect of the eye that is not part of a larger syndrome.	ORPHA:108985
MONDO:0017871	bilateral massive adrenal hemorrhage	biolink:Disease	mondo	Orphanet:319205|UMLS:CN203920|ICD10:E27.4	ordo_etiological_subtype	BMAH|bilateral adrenal hemorrhage	http://purl.obolibrary.org/obo/MONDO_0017871		ORPHA:319205|UMLS:CN203920
MONDO:0017872	Lujo hemorrhagic fever	biolink:Disease	mondo	UMLS:C4274433|Orphanet:319213|UMLS:CN203921|SCTID:716585008|DOID:0050202|ICD10:A96.8	ordo_disease	Zambian hemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0017872	Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old World arenavirus) is a zoonotic disease from Zambia, Africa, whose reservoir is unknown and is characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% (in the 5 reported cases to date) and a moderate to high level of nosocomial transmission.	ORPHA:319213|UMLS:C4274433|UMLS:CN203921|DOID:0050202|SNOMEDCT:716585008
GO:0071326	cellular response to monosaccharide stimulus	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0071326	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus.	
MONDO:0017873	obsolete Ebola hemorrhagic fever	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0017873		
MONDO:0017874	Argentine hemorrhagic fever	biolink:Disease	mondo	SCTID:58868000|UMLS:C0019097|DOID:0050194|Orphanet:319223|ICD10:A96.0	ordo_disease	Junin hemorrhagic fever|Argentinian hemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0017874	Argentine hemorrhagic fever (AHF), caused by the Junin virus (JUNV), is an acute viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms and in some cases hemorrhagic and neurological manifestations.	ORPHA:319223|SNOMEDCT:58868000|DOID:0050194|UMLS:C0019097
MONDO:0015212	syndromic intestinal malformation	biolink:Disease	mondo	UMLS:CN226629|Orphanet:108969	ordo_group_of_disorders	syndromic intestinal malformation|syndrome associated with intestinal malformation|syndrome associated with intestinal malformation	http://purl.obolibrary.org/obo/MONDO_0015212	A intestinal malformation that is part of a larger syndrome.	ORPHA:108969|UMLS:CN226629
MONDO:0015211	non-syndromic intestinal malformation	biolink:Disease	mondo	Orphanet:108967	ordo_group_of_disorders	isolated intestinal malformation|nonsyndromic intestinal malformation|isolated intestinal malformation	http://purl.obolibrary.org/obo/MONDO_0015211	A intestinal malformation that is not part of a larger syndrome.	ORPHA:108967
GO:0071322	cellular response to carbohydrate stimulus	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0071322	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus.	
MONDO:0015210	syndromic gastroduodenal malformation	biolink:Disease	mondo	Orphanet:108965|UMLS:CN226627	ordo_group_of_disorders	syndrome associated with gastroduodenal malformation|syndromic gastroduodenal malformation|syndrome associated with gastroduodenal malformation	http://purl.obolibrary.org/obo/MONDO_0015210	A gastroduodenal malformation that is part of a larger syndrome.	ORPHA:108965|UMLS:CN226627
MONDO:0017870	supravalvular pulmonary stenosis	biolink:Disease	mondo	ICD10:Q25.6|GARD:0004594|Orphanet:3192	gard_rare|ordo_clinical_subtype	pulmonary supravalvular stenosis	http://purl.obolibrary.org/obo/MONDO_0017870		ORPHA:3192
MONDO:0003238	cervical adenomyoma	biolink:Disease	mondo	DOID:4995|NCIT:C40231|UMLS:C1516404		cervical adenomyoma	http://purl.obolibrary.org/obo/MONDO_0003238	A rare, benign, usually polypoid neoplasm that arises from the cervix. It is characterized by the presence of a glandular component and a smooth muscle cell component. Variants include the endocervical type, endometrial type, and atypical polypoid adenomyoma.	DOID:4995|UMLS:C1516404|NCIT:C40231
MONDO:0003239	obsolete Camurati-Engelmann disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003239		
MONDO:0003234	optic nerve astrocytoma	biolink:Disease	mondo	DOID:4991|UMLS:C1335114|NCIT:C6769		astrocytic tumor of optic nerve|astrocytoma (excluding glioblastoma) of cranial nerve II|optic tract astrocytoma|optic tract astrocytoma (excluding glioblastoma)|optic nerve astrocytoma|astrocytoma of the optic nerve|astrocytoma of optic nerve|cranial nerve II astrocytoma (excluding glioblastoma)	http://purl.obolibrary.org/obo/MONDO_0003234	A astrocytoma (excluding glioblastoma) that involves the cranial nerve II.	DOID:4991|NCIT:C6769|UMLS:C1335114
MONDO:0005897	obsolete paratyphoid fever	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005897		
MONDO:0005896	Paramyxoviridae infectious disease	biolink:Disease	mondo	EFO:0007419|MESH:D018184		Paramyxoviridae caused disease or disorder|Paramyxoviridae disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005896	Infections with viruses of the family paramyxoviridae. This includes morbillivirus infections; respirovirus infections; pneumovirus infections; henipavirus infections; avulavirus infections; and rubulavirus infections.	MESH:D018184
MONDO:0003235	optic nerve glioma	biolink:Disease	mondo	NCIT:C4537|MESH:D020339|DOID:4992|UMLS:C0346326|ICD9:237.9|SCTID:254976006		optic nerve glioma|glioma of cranial nerve II|glioma of optic nerve|cranial nerve II glioma|glioma of the optic nerve	http://purl.obolibrary.org/obo/MONDO_0003235	A glioma that affects the optic nerve. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group.	DOID:4992|SNOMEDCT:254976006|MESH:D020339|NCIT:C4537|UMLS:C0346326
MONDO:0003236	atypical polypoid adenomyoma	biolink:Disease	mondo	DOID:4993|NCIT:C6895|UMLS:C1300347		atypical polypoid adenomyoma|atypical polypoid adenomyoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003236	An adenomyoma characterized by the presence of marked glandular architectural complexity.	DOID:4993|UMLS:C1300347|NCIT:C6895
MONDO:0005899	parotid disease	biolink:Disease	mondo	UMLS:C0030579|MESH:D010305|DOID:10302|EFO:0007422		parotid gland disease or disorder|disease of parotid gland|disorder of parotid gland|disorder of parotid gland|parotid gland disease|disease or disorder of parotid gland	http://purl.obolibrary.org/obo/MONDO_0005899	A disease involving the parotid gland.	MESH:D010305|DOID:10302|UMLS:C0030579
UBERON:0014491	middle phalanx of digit 5	biolink:AnatomicalEntity	mondo			fifth digit middle phalanx|middle phalanx of little digit|intermediate phalanx of digit 5|5th digit middle phalanx|fifth middle phalanx|5th digit of intermediate phalanx|middle phalanx of 5th digit|digit 5 intermediate phalanx|middle phalanx of fifth digit|middle phalanx of digit V|fifth digit intermediate phalanx|intermediate phalanx of 5th digit|5th digit of middle phalanx|5th digit intermediate phalanx|digit 5 middle phalanx|digit V P2|intermediate phalanx of fifth digit	http://purl.obolibrary.org/obo/UBERON_0014491	A middle phalanx that is part of a digit 5 [Automatically generated definition].	
MONDO:0003237	adenomyoma of uterine corpus	biolink:Disease	mondo	DOID:4994|NCIT:C6338|UMLS:C1336903		uterine body adenomyoma|adenomyoma of body of uterus|adenomyoma of the corpus uteri|adenomyoma of uterine corpus|adenomyoma of the body of uterus|adenomyoma of the uterine corpus|uterine corpus adenomyoma|adenomyoma of corpus uteri|corpus uteri adenomyoma|body of uterus adenomyoma|adenomyoma of uterine body|adenomyoma of the uterine body	http://purl.obolibrary.org/obo/MONDO_0003237	A usually polypoid, benign neoplasm that arises from the uterine corpus. It is characterized by the presence of benign epithelial glands embedded in benign fibromyomatous tissue.	DOID:4994|NCIT:C6338|UMLS:C1336903
MONDO:0005898	paronychia (disease)	biolink:Disease	mondo	MESH:D010304|DOID:13117|EFO:0007421|ICD9:681.9|COHD:137057|NCIT:C79702|SCTID:71906005|HP:0001818|UMLS:C0030578|ICD10:L03.0		onychia and paronychia of finger|onychia and paronychia of toe|fungal nail infection|paronychia inflammation|infected nailfold|paronychia	http://purl.obolibrary.org/obo/MONDO_0005898	An acute or chronic infection of the soft tissues around the nail. Symptoms include pain, tenderness, erythema, and swelling around the nail. Acute infection results from minor trauma to the fingertip and Staphylococcus aureus is usually the causative agent. Chronic infection is usually caused by Candida albicans.	MESH:D010304|NCIT:C79702|SNOMEDCT:71906005|UMLS:C0030578|DOID:13117
GO:1900449	regulation of glutamate receptor signaling pathway	biolink:OntologyClass	mondo			regulation of glutamate signaling pathway|regulation of glutamate signalling pathway	http://purl.obolibrary.org/obo/GO_1900449	Any process that modulates the frequency, rate or extent of glutamate receptor signaling pathway.	
MONDO:0005893	pancreatic endocrine carcinoma	biolink:Disease	mondo	MESH:D018273|NCIT:C3770|DOID:1798|ICDO:8150/3|UMLS:C1328479|ICD9:157.4|SCTID:254612002|Orphanet:506098|EFO:0007416|ICD10:C25.4	ordo_disease	islet cell carcinoma|pancreatic NEC|islet cell cancer|neuroendocrine carcinoma of pancreas|poorly differentiated pancreatic endocrine carcinoma|pancreatic neuroendocrine carcinoma|pancreatic endocrine cancer|poorly-differentiated pancreatic NEN|pancreatic NEC G3|poorly-differentiated pancreatic neuroendocrine neoplasm|poorly-differentiated NEN of pancreas|poorly-differentiated neuroendocrine neoplasm of pancreas|high-grade pancreatic neuroendocrine carcinoma|carcinoma, islet cell, malignant|carcinoma of endocrine pancreas|endocrine pancreas carcinoma|high grade pancreatic neuroendocrine carcinoma|Pancreatic Neuroendocrine cancer|malignant pancreatic endocrine tumor|malignant neoplasm of islets of Langerhans|pancreatic endocrine carcinoma|malignant islet cell tumor|islet cell carcinoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0005893	An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma.	MESH:D018273|ORPHA:506098|DOID:1798|NCIT:C3770|SNOMEDCT:254612002|UMLS:C1328479
CHEBI:37806	penicillanic acid	biolink:ChemicalSubstance	mondo			penicillanic acid|(2S,5R)-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid|2,2-dimethylpenam-3alpha-carboxylic acid	http://purl.obolibrary.org/obo/CHEBI_37806	A penam that consists of 3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane bearing a carboxy group at position 2 and having (2S,5R)-configuration.	
MONDO:0003230	obsolete extraosseous Ewings sarcoma-primitive neuroepithelial tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003230		
CL:0002119	CD38-positive IgG-negative class switched memory B cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002119	A CD38-positive IgG-negative memory B cell is an IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype CD38-positive and IgG-negative.	
MONDO:0003231	acute nonparalytic poliomyelitis	biolink:Disease	mondo	SCTID:14535005|ICD9:045.20|ICD9:045.2|ICD9:045.23|ICD9:045.22|UMLS:C0152998|DOID:4986|ICD10:A80.4		nonparalytic poliomyelitis|acute nonparalytic poliomyelitis|non-paralytic aseptic meningitis	http://purl.obolibrary.org/obo/MONDO_0003231	A poliomyelitis that does not exhibit paralysis.	DOID:4986|UMLS:C0152998|SNOMEDCT:14535005
MONDO:0005892	otitis media with effusion	biolink:Disease	mondo	ICD9:381.20|MESH:D010034|NCIT:C34886|SCTID:78868004|EFO:0007415|ICD9:381.29		secretory otitis Media|serous otitis Media|secretory otitis Media|OME	http://purl.obolibrary.org/obo/MONDO_0005892	Otitis media associated with accumulation of fluid in the middle ear.	SNOMEDCT:78868004|NCIT:C34886|MESH:D010034
CL:0002118	CD38-negative IgG-negative class switched memory B cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002118	A CD38-negative IgG-negative memory B cell is a IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype CD38-negative and IgG-negative.	
MONDO:0005895	paragonimiasis	biolink:Disease	mondo	ICD9:121.2|NCIT:C84995|SCTID:30369007|DOID:10699|ICD10:B66.4|MESH:D010237|EFO:0007418|UMLS:C0030424|GARD:0009815	gard_rare	lung fluke infection|Paragonimus westermani disease or disorder|infection by Paragonimus|lung fluke disease|pulmonary paragonimiasis|Paragonimus westermani infectious disease|Paragonimus westermani caused disease or disorder|Paragonimus westermani infection	http://purl.obolibrary.org/obo/MONDO_0005895	A parasitic infection caused by trematodes of the Paragonimus genus. Humans are infected from ingestion of raw or undercooked food. It results in chronic lung infection and eosinophilia.	MESH:D010237|DOID:10699|NCIT:C84995|SNOMEDCT:30369007|UMLS:C0030424
MONDO:0003232	alcoholic pancreatitis	biolink:Disease	mondo	SCTID:445507008|UMLS:C0376670|MESH:D019512|DOID:4988|EFO:1002013		alcoholic pancreatitis	http://purl.obolibrary.org/obo/MONDO_0003232	Acute or chronic inflammation of the pancreas due to excessive alcohol drinking. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics.	DOID:4988|MESH:D019512|SNOMEDCT:445507008|UMLS:C0376670
NCBITaxon:565995	Bundibugyo ebolavirus	organism taxon	mondo	GC_ID:1		BDBV|Bundibugyo virus|Ebolavirus bundibugyo	http://purl.obolibrary.org/obo/NCBITaxon_565995		
MONDO:0005894	paracoccidioidomycosis	biolink:Disease	mondo	NCIT:C34891|ICD10:B41.9|MESH:D010229|GARD:0007323|Orphanet:73260|ICD10:B41.0|UMLS:C0030409|MedDRA:10061906|ICD10:B41|ICD9:116.1|EFO:0007417|ICD10:B41.8|SCTID:36866003|ICD10:B41.7|DOID:12662	ordo_disease|gard_rare	lobo disease|paracoccidioidal mycosis|Lutz-Splendore-Almeida disease|Paracoccidioidal granuloma|mucocutaneous-lymphangitic paracoccidioidomycosis|South American blastomycosis|PCM	http://purl.obolibrary.org/obo/MONDO_0005894	A systemic fungal infection caused by Paracoccidioides brasiliensis that is most often seen in immunocompromised patients. It affects the mucous membranes, lymph nodes, lungs and bones.	MESH:D010229|DOID:12662|MEDDRA:10061906|SNOMEDCT:36866003|ORPHA:73260|UMLS:C0030409|NCIT:C34891
MONDO:0003233	essential tremor	biolink:Disease	mondo	OMIMPS:190300|MESH:D020329|COHD:43531003|DOID:4990|ICD9:333.1|ICD10:G25.0|EFO:0003108|UMLS:C0270736|SCTID:609558009		shaky hand syndrome|tremor, hereditary essential|essential hereditary tremor|benign essential tremor	http://purl.obolibrary.org/obo/MONDO_0003233	A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10)	DOID:4990|SNOMEDCT:609558009|MESH:D020329|UMLS:C0270736
MONDO:0005891	ostertagiasis	biolink:Disease	mondo	DOID:3985|UMLS:C0029471|EFO:0007414|MESH:D010029			http://purl.obolibrary.org/obo/MONDO_0005891	A disease of herbivorous mammals, particularly cattle and sheep, caused by stomach worms of the genus ostertagia.	DOID:3985|UMLS:C0029471|MESH:D010029
MONDO:0005890	osteitis fibrosa	biolink:Disease	mondo	NCIT:C34875|SCTID:84727000|UMLS:C0029405|EFO:0007413|DOID:3341|MESH:D010002		Von Recklinghausen disease of Bone|osteitis fibrosa cystica|Von Recklinghausen's bone disease|osteitis fibrosa cystica generalisata|Von Recklinghausen's disease of Bone|hyperparathyroid bone disease	http://purl.obolibrary.org/obo/MONDO_0005890	A disorder that is characterized by bone cysts and fractures, resulting from hyperparathyroidism.	UMLS:C0029405|SNOMEDCT:84727000|NCIT:C34875|DOID:3341|MESH:D010002
CL:0002111	CD38-negative unswitched memory B cell	biolink:Cell	mondo			CD38- unswitched memory B cell|CD38- unswitched memory B-cell|CD38- unswitched memory B lymphocyte|CD38- unswitched memory B-lymphocyte|CD38-negative unswitched memory B-cell|CD38-negative unswitched memory B lymphocyte|CD38-negative unswitched memory B-lymphocyte	http://purl.obolibrary.org/obo/CL_0002111	An CD38-negative unswitched memory B cell is an unswitched memory B cell that has the phenotype CD38-negative, IgD-positive, CD138-negative, and IgG-negative.	
MONDO:0017868	diencephalic-mesencephalic junction dysplasia	biolink:Disease	mondo	Orphanet:319192|ICD10:Q04.8	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0017868	Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionaly, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described.	ORPHA:319192
MONDO:0015205	isolated lissencephaly type 1 without known genetic defects	biolink:Disease	mondo	UMLS:CN226623|Orphanet:1084|ICD10:Q04.3|SCTID:715406003|UMLS:C4275151	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015205	Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly. It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures.	UMLS:CN226623|SNOMEDCT:715406003|UMLS:C4275151|ORPHA:1084
CL:0002110	B220-low CD38-positive naive B cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002110	A B220-low CD38-positive naive B cell is a CD38-positive naive B cell that has the phenotype B220-low, CD38-positive, surface IgD-positive, surface IgM-positive, and CD27-negative, that has not yet been activated by antigen in the periphery.	
MONDO:0015204	microlissencephaly	biolink:Disease	mondo	UMLS:C1956147|Orphanet:1083|ICD10:Q04.3	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0015204	Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years.	UMLS:C1956147|ORPHA:1083
MONDO:0017869	chondroectodermal dysplasia with night blindness	biolink:Disease	mondo	Orphanet:319195|ICD10:Q77.6	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017869	Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates.	ORPHA:319195
CL:0002113	B220-low CD38-negative unswitched memory B cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002113	A B220-low CD38-negative unswitched memory B cell is a CD38-negative unswitched memory B cell that has the phenotype B220-low, CD38-negative, IgD-positive, CD138-negative, and IgG-negative.	
MONDO:0015203	coronary artery congenital malformation	biolink:Disease	mondo	ICD10:Q24.5|Orphanet:1081|MedDRA:10061060	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015203		MEDDRA:10061060|ORPHA:1081
CL:0002112	B220-positive CD38-negative unswitched memory B cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002112	A B220-positive CD38-negative unswitched memory B cell is a CD38-negative unswitched memory B cell that has the phenotype B220-positive, CD38-negative, IgD-positive, CD138-negative, and IgG-negative.	
MONDO:0015202	obsolete babesiosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015202		
MONDO:0015209	non-syndromic gastroduodenal malformation	biolink:Disease	mondo	Orphanet:108963	ordo_group_of_disorders	nonsyndromic gastroduodenal malformation|isolated gastroduodenal malformation|isolated gastroduodenal malformation	http://purl.obolibrary.org/obo/MONDO_0015209	A gastroduodenal malformation that is not part of a larger syndrome.	ORPHA:108963
MONDO:0017864	congenital pulmonary veins atresia or stenosis	biolink:Disease	mondo	Orphanet:3188|UMLS:C0340756|ICD10:Q26.3|SCTID:234062003|GARD:0004598	ordo_morphological_anomaly	pulmonary vein stenosis|pulmonary veins stenosis	http://purl.obolibrary.org/obo/MONDO_0017864	Congenital pulmonary vein (PV) stenosis or atresia is a rare progressive life-threatening great vessels anomaly characterized by narrowing and obstruction of one or more normally positioned PV at their junction with the left atrium, that usually presents during early infancy with dyspnea, tachypnea, and repeated pulmonary infections, and eventually, when all PV of one lung are affected, results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly and septal defects.	UMLS:C0265915|SNOMEDCT:234062003|UMLS:C0340756|ORPHA:3188|UMLS:C0344679
CL:0002115	B220-positive CD38-positive unswitched memory B cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002115	A B220-positive CD38-positive unswitched memory B cell is a CD38-positive unswitched memory B cell that has the phenotype B220-positive, CD38-positive, IgD-positive, CD138-negative, and IgG-negative.	
MONDO:0015208	syndromic esophageal malformation	biolink:Disease	mondo	UMLS:CN226625|Orphanet:108961	ordo_group_of_disorders	syndromic esophageal malformation|syndrome associated with esophageal malformation|syndrome associated with esophageal malformation	http://purl.obolibrary.org/obo/MONDO_0015208	A esophageal malformation that is part of a larger syndrome.	ORPHA:108961|UMLS:CN226625
MONDO:0017865	congenital pulmonary valve stenosis	biolink:Disease	mondo	MedDRA:10037451|COHD:313005|Orphanet:3189|GARD:0004596|ICD10:Q22.1	ordo_morphological_anomaly|gard_rare	heart valve pulmonary stenosis|valvar pulmonary stenosis|valvate pulmonary stenosis|valvular pulmonary stenosis	http://purl.obolibrary.org/obo/MONDO_0017865	Congenital pulmonary stenosis (PS) is a congenital heart malformation that is characterized by a right ventricular outflow obstruction with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction in PS can be at the valvular, subpulmonary, or supravalvular levels (valvular, subpulmonary, supravalvular PS).	MESH:D011666|ORPHA:3189|MEDDRA:10037451|UMLS:C0162164
CL:0002114	CD38-positive unswitched memory B cell	biolink:Cell	mondo			CD38+ unswitched memory B cell|CD38-positive unswitched memory B-lymphocyte|CD38+ unswitched memory B-cell|CD38+ unswitched memory B lymphocyte|CD38+ unswitched memory B-lymphocyte|CD38-positive unswitched memory B-cell|CD38-positive unswitched memory B lymphocyte	http://purl.obolibrary.org/obo/CL_0002114	A CD38-positive unswitched memory B cell is an unswitched memory B cell that has the phenotype CD38-positive, IgD-positive, CD138-negative, and IgG-negative.	
MONDO:0015207	non-syndromic esophageal malformation	biolink:Disease	mondo	Orphanet:108959	ordo_group_of_disorders	isolated esophageal malformation|nonsyndromic esophageal malformation|isolated esophageal malformation	http://purl.obolibrary.org/obo/MONDO_0015207	A esophageal malformation that is not part of a larger syndrome.	ORPHA:108959
MONDO:0017866	subpulmonary stenosis	biolink:Disease	mondo	UMLS:C3165028|ICD10:Q24.3|SCTID:448476001|GARD:0005051|Orphanet:3190	gard_rare|ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017866		SNOMEDCT:448476001|ORPHA:3190|UMLS:C3165028
CL:0002117	IgG-negative class switched memory B cell	biolink:Cell	mondo			IgG- class switched memory B cell|IgG- class switched memory B-cell|IgG- class switched memory B lymphocyte|IgG- class switched memory B-lymphocyte|IgG-negative class switched memory B-cell|IgG-negative class switched memory B lymphocyte|IgG-negative class switched memory B-lymphocyte	http://purl.obolibrary.org/obo/CL_0002117	A class switched memory B cell that lacks IgG on the cell surface.	
CL:0002116	B220-low CD38-positive unswitched memory B cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002116	A B220-low CD38-positive unswitched memory B cell is a CD38-positive unswitched memory B cell that has the phenotype B220-low, CD38-positive, IgD-positive, CD138-negative, and IgG-negative.	
MONDO:0017867	distal 17p13.1 microdeletion syndrome	biolink:Disease	mondo	Orphanet:319171|UMLS:CN203914|ICD10:Q93.5	ordo_malformation_syndrome	distal del(17)(p13.1)	http://purl.obolibrary.org/obo/MONDO_0017867	Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.	ORPHA:319171|UMLS:CN203914
MONDO:0015206	short stature-heart defect-craniofacial anomalies syndrome	biolink:Disease	mondo	Orphanet:1088|MESH:C535871|GARD:0004739|ICD10:Q87.1|UMLS:C2931050	ordo_malformation_syndrome	short stature heart defect and craniofacial anomalies|Rommen-Mueller-Sybert syndrome|Rommen Mueller Sybert syndrome	http://purl.obolibrary.org/obo/MONDO_0015206		UMLS:C2931050|MESH:C535871|ORPHA:1088
MONDO:0017860	methanol poisoning	biolink:Disease	mondo	Orphanet:31825|ICD10:T51.1|UMLS:CN203895	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017860	Methanol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the alcohol dehydrogenase (ADH)-mediated production of formic acid (which is poisonous to the central nervous system), and characterized by dizziness, nausea, vomiting, confusion, metabolic acidosis, visual disturbances (which if left untreated can lead to blindness), coma, and death (due to respiratory failure).	UMLS:CN203895|ORPHA:31825
MONDO:0017861	ethylene glycol poisoning	biolink:Disease	mondo	ICD9:982.8|SCTID:426692001|Orphanet:31826|ICD10:T52.8	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017861	Ethylene glycol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure.	UMLS:C0413194|SNOMEDCT:426692001|ORPHA:31826
HGNC:9277	PPM1D	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9277		
MONDO:0017862	paraquat poisoning	biolink:Disease	mondo	ICD10:T60.3|UMLS:CN227212|Orphanet:31827	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017862	Paraquat poisoning is a rare intoxication with paraquat (a non-selective bipyridilium herbicide that has been banned in Europe), usually occurring through ingestion of the poison, and that presents with caustic injury of the oral cavity and pharynx, as well as nausea, vomiting, epigastric pain, lethargy, loss of consciousness and fever. Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. Intoxication via inhalation, injection and dermal or mucus contact have also been reported.	ORPHA:31827|UMLS:CN227212
MONDO:0017863	digitalis poisoning	biolink:Disease	mondo	ICD10:T46.0|SCTID:12876009|Orphanet:31828|UMLS:CN203897	ordo_clinical_situation		http://purl.obolibrary.org/obo/MONDO_0017863	Digitalis (digoxin) poisoning is a potentially life-threatening poisoning that provokes conduction disturbances, characterized by increased automaticity and decreased conduction. Acute poisoning presents with the common initial manifestations of nausea and vomiting, cardiovascular manifestations (bradycardia, heart block and a variety of dysrhythmias), central nervous system manifestations (lethargy, confusion and weakness) and hyperkalemia. Chronic poisoning is more insidious, manifesting with gastrointestinal symptoms, altered mental status, and visual disturbances.	ORPHA:31828|UMLS:CN203897|SNOMEDCT:12876009
MONDO:0015201	ankyloblepharon filiforme-imperforate anus syndrome	biolink:Disease	mondo	Orphanet:1074|UMLS:CN197555|ICD10:Q87.8	ordo_malformation_syndrome	ankyloblepharon filiforme adnatum-imperforate anus syndrome|Aughton-Hufnagle syndrome	http://purl.obolibrary.org/obo/MONDO_0015201	Ankyloblepharon filiforme adnatum-imperforate anus syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993.	UMLS:CN197555|ORPHA:1074
MONDO:0015200	anisakiasis	biolink:Disease	mondo	MESH:D017129|GARD:0000693|EFO:0007146|UMLS:C0162576|NCIT:C128393|DOID:7033|MedDRA:10002533|ICD10:B81.0|Orphanet:1070|SCTID:442652006|ICD9:127.1	ordo_disease|gard_rare	Anisakiases|Pseudoterranova infection|Anisakis simplex infection|Anisakis infection|infection by Anisakis larva|infections, Anisakis simplex	http://purl.obolibrary.org/obo/MONDO_0015200	Infection with roundworms of the genus anisakis. Human infection results from the consumption of fish harboring roundworm larvae. The worms may cause acute nausea; vomiting; or penetrate into the wall of the digestive tract where they give rise to eosinophilic granuloma in the stomach; intestines; or the omentum.	NCIT:C128393|UMLS:C2711591|MESH:D017129|MEDDRA:10002533|DOID:7033|SNOMEDCT:442652006|ORPHA:1070|UMLS:C0162576
GO:0071310	cellular response to organic substance	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0071310	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus.	
HGNC:9279	PDP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9279		
MONDO:0003205	renal pelvis adenocarcinoma	biolink:Disease	mondo	UMLS:C1335748|DOID:4918|NCIT:C6143		kidney renal pelvis adenocarcinoma|adenocarcinoma of the kidney pelvis|adenocarcinoma of renal pelvis|renal pelvis adenocarcinoma|kidney pelvis adenocarcinoma|adenocarcinoma of kidney pelvis|adenocarcinoma of the renal pelvis	http://purl.obolibrary.org/obo/MONDO_0003205	A carcinoma that arises from glandular epithelial cells of the renal pelvis	DOID:4918|NCIT:C6143|UMLS:C1335748
MONDO:0005868	myelophthisic anemia	biolink:Disease	mondo	UMLS:C0002890|NCIT:C36218|DOID:2354|EFO:0007388|ICD9:285.8|ICD10:D61.82|MESH:D000750|SCTID:2694001		anemia, leukoerythroblastic|leukoerythroblastosis|anemia LEUKOERYTHROBLASTIC|leukoerythroblastic reaction|myelophthisis	http://purl.obolibrary.org/obo/MONDO_0005868	A laboratory test result indicating an abnormal amount of circulating nucleated red blood cells and immature red blood cells.	UMLS:C0002890|MESH:D000750|DOID:2354|NCIT:C36218|SNOMEDCT:2694001
MONDO:0005867	Mycoplasma pneumoniae pneumonia	biolink:Disease	mondo	MESH:D011019|ICD9:483.0|DOID:13276|ICD10:J15.7|SCTID:46970008|NCIT:C122526|GARD:0007125|EFO:0007387		pneumonia due to Eaton's agent|pneumonia due to Mycoplasma pneumoniae (disorder)|cold agglutinin positive pneumonia|Mycoplasmal pneumonia|pneumonia due to Mycoplasma pneumoniae|Mycoplasma pneumonia	http://purl.obolibrary.org/obo/MONDO_0005867	Interstitial pneumonia caused by extensive infection of the lungs (lung) and bronchi, particularly the lower lobes of the lungs, by mycoplasma pneumoniae in humans. In sheep, it is caused by mycoplasma ovipneumoniae. In cattle, it may be caused by mycoplasma dispar.	NCIT:C122526|MESH:D011019|DOID:13276|SNOMEDCT:46970008
HGNC:9280	PPOX	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9280		
MONDO:0003206	acquired hemangioma	biolink:Disease	mondo	UMLS:C0856897|NCIT:C27018|DOID:492		acquired hemangioma	http://purl.obolibrary.org/obo/MONDO_0003206	A hemangioma that is not present at birth but develops later in life.	DOID:492|UMLS:C0856897|NCIT:C27018
UBERON:0014483	distal phalanx of digit 1	biolink:AnatomicalEntity	mondo			distal phalanx of first digit|digit 1 distal phalanx|digit I P3|distal phalanx of digit I|first distal phalanx	http://purl.obolibrary.org/obo/UBERON_0014483	A distal phalanx that is part of a digit 1 [Automatically generated definition].	
MONDO:0003207	obsolete eccrine adenocarcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003207		
MONDO:0003208	breast secretory carcinoma	biolink:Disease	mondo	ICDO:8502/3|DOID:4922|ONCOTREE:JSCB|UMLS:C0334371|GARD:0009408|NCIT:C4189|ICDO:8508/3|MESH:C537535	gard_rare	JSCB|secretory carcinoma of breast|juvenile secretory carcinoma of breast|secretory carcinoma of the breast|juvenile carcinoma (formerly)|juvenile secretory carcinoma of the breast|invasive cystic hypersecretory duct breast carcinoma|juvenile secretory breast carcinoma|secretory breast carcinoma|secretory carcinoma|juvenile carcinoma of the breast (morphologic abnormality)|juvenile carcinoma of the breast|juvenile carcinoma of breast|SBC|cystic hypersecretory breast carcinoma|juvenile breast carcinoma|infiltrating cystic hypersecretory duct breast carcinoma|cystic hypersecretory carcinoma of breast|cystic hypersecretory carcinoma of the breast	http://purl.obolibrary.org/obo/MONDO_0003208	A rare, low grade invasive adenocarcinoma of the breast characterized by the presence of cells that secrete milk-like material. Morphologically, it usually appears as a circumscribed lesion, composed of cystic spaces, tubular structures, and solid areas.	MESH:C537535|DOID:4922|NCIT:C4189|UMLS:C0334371
MONDO:0005869	obsolete myiasis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005869		
MONDO:0005864	muscle cancer	biolink:Disease	mondo	ICDO:8895/3|UMLS:C0027095|ICD10:C49|DOID:4045|EFO:0007384|ICD9:171.9|SCTID:363495004|NCIT:C4883|UMLS:C0684743		muscle structure cancer|malignant muscle neoplasm|malignant neoplasm of muscle structure|malignant tumor of muscle|malignant neoplasm of the muscle|malignant tumor of the muscle|malignant muscle structure neoplasm|malignant muscle tumor|malignant neoplasm of muscle|cancer of muscle structure|myosarcoma	http://purl.obolibrary.org/obo/MONDO_0005864	A malignant neoplasm affecting the skeletal or smooth muscles. Malignant neoplasms arising from the skeletal muscles are called rhabdomyosarcomas. Malignant neoplasms arising from the smooth muscles are called leiomyosarcomas.	SNOMEDCT:363495004|DOID:4045|UMLS:C0684743|UMLS:C0027095|NCIT:C4883
MONDO:0003201	obsolete esophagus adenocarcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003201		
MONDO:0003202	pituitary gland basophilic carcinoma	biolink:Disease	mondo	UMLS:C1704778|NCIT:C27392|DOID:4915		basophil adenocarcinoma|basophilic carcinoma|basophil carcinoma (morphologic abnormality)|basophil carcinoma|pituitary gland basophil carcinoma	http://purl.obolibrary.org/obo/MONDO_0003202		DOID:4915|NCIT:C27392|UMLS:C1704778
MONDO:0005863		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005863		
MONDO:0005866	mycobacterium avium complex disease	biolink:Disease	mondo	MESH:D015270|SCTID:373436002|DOID:2755|EFO:0007386|ICD9:031.8|GARD:0009236|UMLS:C0026916|NCIT:C36197	gard_rare	Mycobacterium avium Complex|Mycobacterium avium complex disease or disorder|DMAC|Mycobacterium avium complex infectious disease|Mycobacterium avium complex caused disease or disorder|Mycobacterium avium infection|infection due to Mycobacterium intracellulare|disseminated infection with mycobacterium avium complex|MAC disease	http://purl.obolibrary.org/obo/MONDO_0005866	An infection that is caused by Mycobacterium avium.	UMLS:C0026916|SNOMEDCT:373436002|DOID:2755|MESH:D015270|NCIT:C36197
MONDO:0003203	obsolete pituitary carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003203		
MONDO:0005865	mushroom workers' lung	biolink:Disease	mondo	ICD10:J67.5|ICD9:495.5|COHD:433233|UMLS:C0155889|DOID:2708|EFO:0007385|SCTID:52333004			http://purl.obolibrary.org/obo/MONDO_0005865	An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes.	SNOMEDCT:52333004|DOID:2708|UMLS:C0155889
MONDO:0003204	villous adenocarcinoma	biolink:Disease	mondo	ICDO:8262/3|UMLS:C0334306|DOID:4917|NCIT:C4142		villous adenocarcinoma|villous adenocarcinoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003204	An adenocarcinoma characterized by the presence of a villous architectural pattern. It may arise from a villous adenoma.	DOID:4917|NCIT:C4142|UMLS:C0334306
MONDO:0005860		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005860		
MONDO:0005862	multiple chemical sensitivity	biolink:Disease	mondo	MESH:D018777|SCTID:702772003|UMLS:C0242992|DOID:4661|EFO:0007382	speculative	chemical AIDS|idiopathic environmental illness|20th century disease|total allergy syndrome|environmental illness	http://purl.obolibrary.org/obo/MONDO_0005862	An acquired disorder characterized by recurrent symptoms, referable to multiple organ systems, occurring in response to demonstrable exposure to many chemically unrelated compounds at doses below those established in the general population to cause harmful effects. (Cullen mr. The worker with multiple chemical sensitivities: an overview. Occup Med 1987;2(4):655-61)	DOID:4661|SNOMEDCT:702772003|MESH:D018777|UMLS:C0242992
MONDO:0005861	multidrug-resistant tuberculosis	biolink:Disease	mondo	SCTID:423092005|UMLS:C0206526|MESH:D018088|DOID:401|NCIT:C128415|EFO:0007381		multidrug-resistant TB|MDR-TB	http://purl.obolibrary.org/obo/MONDO_0005861	Tuberculosis disease that is caused by a multidrug-resistant strain of Mycobacterium tuberculosis.	DOID:401|NCIT:C128415|UMLS:C0206526|SNOMEDCT:423092005|MESH:D018088
MONDO:0003200	urethra adenocarcinoma	biolink:Disease	mondo	DOID:4910|ONCOTREE:UAD|UMLS:C1336885|NCIT:C6167		urethral adenocarcinoma|adenocarcinoma of the urethra|urethra adenocarcinoma|UAD|adenocarcinoma of urethra	http://purl.obolibrary.org/obo/MONDO_0003200	A carcinoma that arises from glandular epithelial cells of the urethra	DOID:4910|NCIT:C6167|UMLS:C1336885
GO:1900451	positive regulation of glutamate receptor signaling pathway	biolink:OntologyClass	mondo			up-regulation of glutamate signaling pathway|positive regulation of glutamate signalling pathway|up regulation of glutamate signalling pathway|up regulation of glutamate signaling pathway|positive regulation of glutamate signaling pathway|upregulation of glutamate receptor signaling pathway|up-regulation of glutamate signalling pathway|upregulation of glutamate signaling pathway|activation of glutamate signaling pathway|up regulation of glutamate receptor signaling pathway|activation of glutamate signalling pathway|upregulation of glutamate signalling pathway|up-regulation of glutamate receptor signaling pathway|activation of glutamate receptor signaling pathway	http://purl.obolibrary.org/obo/GO_1900451	Any process that activates or increases the frequency, rate or extent of glutamate receptor signaling pathway.	
GO:1900450	negative regulation of glutamate receptor signaling pathway	biolink:OntologyClass	mondo			downregulation of glutamate signaling pathway|inhibition of glutamate signalling pathway|down regulation of glutamate receptor signaling pathway|inhibition of glutamate receptor signaling pathway|inhibition of glutamate signaling pathway|down-regulation of glutamate receptor signaling pathway|downregulation of glutamate signalling pathway|down-regulation of glutamate signaling pathway|negative regulation of glutamate signaling pathway|down regulation of glutamate signalling pathway|down regulation of glutamate signaling pathway|negative regulation of glutamate signalling pathway|down-regulation of glutamate signalling pathway|downregulation of glutamate receptor signaling pathway	http://purl.obolibrary.org/obo/GO_1900450	Any process that stops, prevents or reduces the frequency, rate or extent of glutamate receptor signaling pathway.	
UBERON:0014487	distal phalanx of digit 5	biolink:AnatomicalEntity	mondo			digit V P3|digit 5 distal phalanx|fifth digit distal phalanx|distal phalanx of little digit|distal phalanx of 5th digit|5th digit distal phalanx|fifth distal phalanx|distal phalanx of fifth digit|distal phalanx of digit V	http://purl.obolibrary.org/obo/UBERON_0014487	A distal phalanx that is part of a digit 5 [Automatically generated definition].	
MONDO:0017857	spina bifida-hypospadias syndrome	biolink:Disease	mondo	UMLS:CN203872|Orphanet:3176|ICD10:Q05.9	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0017857	Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis.	ORPHA:3176|UMLS:CN203872
MONDO:0017858	acute erythroid leukemia	biolink:Disease	mondo	UMLS:C0023440|ICD10:C94.0|SCTID:93451002|Orphanet:318|ICDO:9840/3|MESH:D004915|ICD9:207.00|GARD:0009620|GARD:0009750|NCIT:C8923|ICD9:205.80	ordo_disease|gard_rare	Di Guglielmo's syndrome|acute erythroleukemia M6b subtype|M6 acute myeloid leukemia|acute erythroleukemia M6a subtype|erythroblastic leukemia|acute erythroleukemia|acute myeloid leukemia M6|Di Guglielmo syndrome|leukemia, erythroid, malignant|AEL|acute myeloid leukemia FAB-M6|acute erythroid leukemia|FAB M6|Erythroleukemia|AML-M6|acute erythroblastic leukemia|AML M6	http://purl.obolibrary.org/obo/MONDO_0017858	An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)	ORPHA:318|NCIT:C8923|UMLS:C0023440|SNOMEDCT:93451002|MESH:D004915
MONDO:0017859	colchicine poisoning	biolink:Disease	mondo	ICD10:T50.4|Orphanet:31824|ICD9:974.7|UMLS:CN203894|SCTID:24354007	ordo_clinical_situation		http://purl.obolibrary.org/obo/MONDO_0017859	A potentially life-threatening poisoning, due to ingestion of the drug or consumption of the plant Colchicum autumnale, that usually begins with gastrointestinal symptoms (e.g. abdominal pain, nausea, vomiting, and diarrhea, that cause severe dehydration) and an initial leukocytosis leading to marrow failure (24 hours after ingestion), followed by potentially fatal multi-organ failure with mental status change, oliguric renal failure, disseminated intravascular coagulation, electrolyte imbalance, acid-base disturbance, cardiac failure/arrest and shock within 1-3 days.	SNOMEDCT:24354007|ORPHA:31824|UMLS:CN203894
MONDO:0017853	hypersensitivity pneumonitis	biolink:Disease	mondo	ICD10:J67.7|ICD9:495.9|SCTID:37471005|ICD10:J67.6|Orphanet:31740|ICD10:J67.5|MedDRA:10001890|ICD10:J67.4|ICD10:J67.1|GARD:0000012|ICD10:J67.3|ICD10:J67.0|ICD9:495.8|ICD10:J67.2|ICD10:J67.9|ICD10:J67.8	gard_rare|ordo_group_of_disorders	extrinsic allergic alveolitis|allergic pneumonitis|extrinsic allergic pneumonia hypersensitivity pneumonitis|Hp|allergic interstitial pneumonitis|alveolitis, extrinsic allergic|hypersensitivity pneumonitis	http://purl.obolibrary.org/obo/MONDO_0017853	Hypersensitivity pneumonitis (HP) is a pulmonary disease with symptoms of dyspnea and cough resulting from the inhalation of an antigen to which the subject has been previously sensitized.	MESH:D000542|ORPHA:31740|MEDDRA:10001890|UMLS:C0002390|SNOMEDCT:37471005
MONDO:0017854	obsolete T-b+ severe combined immunodeficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0017854		
MONDO:0017855	T-B- severe combined immunodeficiency	biolink:Disease	mondo	Orphanet:317419|ICD10:D81.1	ordo_group_of_disorders	T-B- SCID	http://purl.obolibrary.org/obo/MONDO_0017855	T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types.	ORPHA:317419
MONDO:0017856	X-linked spasticity-intellectual disability-epilepsy syndrome	biolink:Disease	mondo	Orphanet:3175|ICD10:G25.3|UMLS:CN203866	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017856		ORPHA:3175|UMLS:CN203866
MONDO:0017850	sirenomelia	biolink:Disease	mondo	NCIT:C118455|Orphanet:3169|GARD:0007652|ICD10:Q87.2|SCTID:67254002|MedDRA:10049216|UMLS:C0037205	ordo_malformation_syndrome	mermaid malformation|sirenomelia sequence|mermaid syndrome|Sirenomelus|Fused legs and feet|symmelia	http://purl.obolibrary.org/obo/MONDO_0017850	Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth.	UMLS:C0037205|ORPHA:3169|MEDDRA:10049216|NCIT:C118455|MESH:C538595|SNOMEDCT:67254002
MONDO:0017851	erythrokeratodermia variabilis	biolink:Disease	mondo	OMIMPS:133200|MedDRA:10049048|DOID:0050467|UMLS:C0265961|NCIT:C84696|SCTID:70041004|MESH:C536154|MESH:D056266|Orphanet:317|Orphanet:316|GARD:0003096|ICD10:Q82.8	ordo_disease|gard_rare	EKV|erythrokeratodermia variabilis, Mendes da Costa type|progressive symmetric erythrokeratodermia|erythrokeratodermia, progressive symmetric|keratoderma palmoplantaris transgrediens|erythrokeratodermia progressiva symmetrica|EKVP|progressive symmetric erythrokeratodermia, Gottron type|erythrokeratodermia variabilis ET progressiva|Greither's disease|keratosis palmoplantaris transgrediens Et progrediens|erythrokeratodermia variabilis with erythema gyratum repens|keratosis palmoplantaris transgrediens et progrediens|erythrokeratodermia variabilis with erythema Gyratum Repens|keratosis extremitatum hereditaria progrediens|Darier-Gottron disease|erythrokeratodermia variabilis ET progressiva; EKVP|erythrokeratodermia variabilis|erythrokeratodermia Figurata variabilis|erythrokeratodermia figurata, congenital familial, in plaques|erythrokeratodermia Figurata, congenital familial, in plaques|Greither disease	http://purl.obolibrary.org/obo/MONDO_0017851	A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema. Mutations in GJB3 and GJB4 genes have been identified as causative agents.	SNOMEDCT:70041004|DOID:0050467|ORPHA:316|ORPHA:317|UMLS:C0265961|NCIT:C84696|MEDDRA:10049048|MESH:D056266|MESH:C536154
MONDO:0017852	infantile spasms-broad thumbs syndrome	biolink:Disease	mondo	GARD:0003002|Orphanet:3173|UMLS:CN203849|ICD10:G40.4	ordo_disease|gard_rare	Tsao-Ellingson syndrome|infantile spasms broad thumbs|Tsao Ellingson syndrome	http://purl.obolibrary.org/obo/MONDO_0017852	Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990.	ORPHA:3173|UMLS:CN203849
GO:0071345	cellular response to cytokine stimulus	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0071345	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus.	
NCBITaxon:32066	Fusobacteria	organism taxon	mondo	GC_ID:11|PMID:24969840|PMID:29458499|PMID:26654112		Fusobacteraeota|fusobacteria|Fusobacteriota	http://purl.obolibrary.org/obo/NCBITaxon_32066		
MONDO:0005879	ocular toxoplasmosis	biolink:Disease	mondo	MESH:D014126|SCTID:416481006|GARD:0007238|EFO:0007399|UMLS:C0040561|ICD9:130.7	gard_rare		http://purl.obolibrary.org/obo/MONDO_0005879	Ocular toxoplasmosis is an infection in the eye caused by the parasite, Toxoplasm a gondii. Toxoplasmosis is the most common cause of eye inflammation in the world. Toxoplamosis can beacquired or present at birth (congenital), having crossed the placenta from a newly infected mother to her fetus. Most humans acquire toxoplasmosis by eating raw or undercooked meat, vegetables or milk products, or by coming into contact with infected cat litterbox or sandboxes.In humans,the infectionusually causes no symptoms, and resolves without treatment in a few months. In individuals with compromised immune systems, Toxoplasm a gondii can reactivate to cause disease. Reactivation of a congenital infection was traditionally thought to be the most common cause ofocular toxoplasmosis, but an acquired infection is now considered to be more common. A toxoplasmosis infection that affects the eye usually attacks the retina andinitially resolves without symptoms. However,the inactive parasite maylaterreactivate causing eyepain, blurred vision, and possibly permanent damage, including blindness. Although most cases of toxoplasmosis resolve on their own,for some,inflammation can be treated with antibiotics and steroids.	UMLS:C0040561|SNOMEDCT:416481006|MESH:D014126
MONDO:0003216	ureter adenocarcinoma	biolink:Disease	mondo	DOID:4938|NCIT:C6155|UMLS:C1336873		adenocarcinoma of ureter|ureteral adenocarcinoma|adenocarcinoma of the ureter|ureter adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003216	A carcinoma that arises from glandular epithelial cells of the ureter	DOID:4938|NCIT:C6155|UMLS:C1336873
HP:0031093	Abnormal breast morphology	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0031093	Any anomaly of the structure of the breast.	
GO:0046395	carboxylic acid catabolic process	biolink:OntologyClass	mondo			carboxylic acid degradation|carboxylic acid breakdown|carboxylic acid catabolism	http://purl.obolibrary.org/obo/GO_0046395	The chemical reactions and pathways resulting in the breakdown of carboxylic acids, any organic acid containing one or more carboxyl (-COOH) groups.	
MONDO:0005878	ocular onchocerciasis	biolink:Disease	mondo	EFO:0007398|MESH:D015827|SCTID:240842000|NCIT:C34862|UMLS:C0029002		eyeball of camera-type eye onchocerciasis|onchocerciasis of eyeball of camera-type eye	http://purl.obolibrary.org/obo/MONDO_0005878	Onchocerciasis affecting the eye.	SNOMEDCT:240842000|NCIT:C34862|UMLS:C0029002|MESH:D015827
MONDO:0003217	obsolete ureter carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003217		
HGNC:9291	PPP1R3A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9291		
MONDO:0003218	adenocarcinoma in situ	biolink:Disease	mondo	ONCOTREE:AIS|NCIT:C4123|DOID:4943|MESH:D065311|ICDO:8140/2|UMLS:C0334276		AIS|adenocarcinoma in situ	http://purl.obolibrary.org/obo/MONDO_0003218	A lesion in which the normally situated glands are partially or completely replaced by atypical cells with malignant characteristics.	MESH:D065311|DOID:4943|NCIT:C4123|UMLS:C0334276
GO:0046394	carboxylic acid biosynthetic process	biolink:OntologyClass	mondo			carboxylic acid synthesis|carboxylic acid formation|carboxylic acid biosynthesis|carboxylic acid anabolism	http://purl.obolibrary.org/obo/GO_0046394	The chemical reactions and pathways resulting in the formation of carboxylic acids, any organic acid containing one or more carboxyl (-COOH) groups.	
MONDO:0003219	gastroesophageal junction adenocarcinoma	biolink:Disease	mondo	DOID:4944|UMLS:C1332166|ONCOTREE:EGC|NCIT:C9296|ONCOTREE:GEJ		gastroesophageal junction adenocarcinoma|adenocarcinoma of the EG junction|adenocarcinoma of cardioesophageal junction|esophagogastric junction adenocarcinoma|adenocarcinoma of the cardioesophageal junction|adenocarcinoma of gastroesophageal junction|adenocarcinoma of the esophagogastric junction|adenocarcinoma of the gastroesophageal junction|adenocarcinoma - GEJ|esophagogastric adenocarcinoma|adenocarcinoma of the GE junction	http://purl.obolibrary.org/obo/MONDO_0003219	A carcinoma that arises from glandular epithelial cells of the esophagogastric junction.	UMLS:C1332166|NCIT:C9296|DOID:4944
MONDO:0003212	nasal cavity carcinoma	biolink:Disease	mondo	DOID:4931|SCTID:448990005|UMLS:C1377785|NCIT:C9336		nasal cavity cancer|cancer of nasal cavity|cancer of the nasal cavity|carcinoma of the nasal cavity|nasal cavity carcinoma|carcinoma of nasal cavity	http://purl.obolibrary.org/obo/MONDO_0003212	A carcinoma that arises from epithelial cells of the nasal cavity	DOID:4931|UMLS:C1377785|SNOMEDCT:448990005|NCIT:C9336
MONDO:0005875	Newcastle disease	biolink:Disease	mondo	NCIT:C34849|MESH:D009521|DOID:2929|EFO:0007395|UMLS:C0027983		Newcastle's disease|pseudo-fowlpest	http://purl.obolibrary.org/obo/MONDO_0005875	A condition caused by infection by the Newcastle disease virus, which may be characterized by conjunctivitis, respiratory illness, and diarrhea.	NCIT:C34849|DOID:2929|MESH:D009521|UMLS:C0027983
MONDO:0003213	obsolete ampulla of vater carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003213		
MONDO:0005874	neuroschistosomiasis	biolink:Disease	mondo	UMLS:C0752191|DOID:13722|EFO:0007394|MESH:D020818			http://purl.obolibrary.org/obo/MONDO_0005874	Schistosomiasis of the brain, spinal cord, or meninges caused by infections with trematodes of the genus schistosoma (primarily schistosoma japonicum; schistosoma mansoni; and schistosoma haematobium in humans). S. japonicum infections of the nervous system may cause an acute meningoencephalitis or a chronic encephalopathy. S. mansoni and S. haematobium nervous system infections are associated with acute transverse myelitis involving the lower portions of the spinal cord. (From Joynt, Clinical Neurology, 1998, Ch27, pp61-2)	DOID:13722|MESH:D020818|UMLS:C0752191
GO:0046390	ribose phosphate biosynthetic process	biolink:OntologyClass	mondo			ribose phosphate anabolism|ribose phosphate synthesis|ribose phosphate biosynthesis|ribose phosphate formation	http://purl.obolibrary.org/obo/GO_0046390	The chemical reactions and pathways resulting in the formation of ribose phosphate, any phosphorylated ribose sugar.	
MONDO:0003214	apocrine adenocarcinoma	biolink:Disease	mondo	GARD:0012138|ICDO:8401/3|UMLS:C0334346|UMLS:C1706827|NCIT:C4169|DOID:4933		apocrine gland adenocarcinoma|apocrine gland carcinoma|apocrine carcinoma|apocrine adenocarcinoma (morphologic abnormality)|carcinoma of the apocrine gland|carcinoma of apocrine gland	http://purl.obolibrary.org/obo/MONDO_0003214	A carcinoma with apocrine differentiation arising from the sweat glands. It presents as single or multiple nodular lesions which may be ulcerated or hemorrhagic and is usually in the axilla and less often in the anogenital region. It grows in the dermis and infiltrates subcutaneous tissues. It is characterized by the presence of large cells with abundant eosinophilic cytoplasm and large often vesicular nuclei. Most cases are slow growing tumors and have a prolonged course.	DOID:4933|UMLS:C1706827|NCIT:C4169|UMLS:C0334346
MONDO:0005877	obsolete nocardiosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005877		
MONDO:0005876	Nidovirales infectious disease	biolink:Disease	mondo	MESH:D030341|UMLS:C0969753|EFO:0007396		Nidovirales disease or disorder|Nidovirales caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005876	Infections with viruses of the order nidovirales. The concept includes arterivirus infections and coronaviridae infections.	UMLS:C0969753|MESH:D030341
MONDO:0003215	apocrine sweat gland cancer	biolink:Disease	mondo	NCIT:C6800|UMLS:C1334561|DOID:4934		malignant apocrine skin neoplasm|malignant apocrine neoplasm of skin|malignant apocrine skin tumor|malignant neoplasm of apocrine sweat gland|malignant apocrine neoplasm of the skin|malignant apocrine tumor of skin|apocrine sweat gland cancer|malignant apocrine tumor of the skin|malignant apocrine tumor|malignant apocrine neoplasm|cancer of apocrine sweat gland|malignant apocrine sweat gland neoplasm	http://purl.obolibrary.org/obo/MONDO_0003215	A malignant neoplasm involving the apocrine sweat gland.	DOID:4934|NCIT:C6800|UMLS:C1334561
MONDO:0005871	Nematoda infectious disease	biolink:Disease	mondo	MESH:D009349|UMLS:C0027583|SCTID:84706005|EFO:0007391		Infections, Nematode|Nematoda disease or disorder|Nematode Infection|Nematode Infections|disease due to nematoda|nematode infection|Nematode infection|nematodiasis|Disease due to Nematoda|Nematodiasis|Nematoda caused disease or disorder|Infection, Nematode	http://purl.obolibrary.org/obo/MONDO_0005871	Infections caused by nematode larvae which never develop into the adult stage and migrate through various body tissues. They commonly infect the skin, eyes, and viscera in humans. Ancylostoma brasiliensis causes cutaneous larva migrans. Toxocara causes visceral larva migrans.	SNOMEDCT:84706005|UMLS:C0027583|MESH:D009349
UBERON:0014478	rib skeletal system	biolink:AnatomicalEntity	mondo			set of all ribs|rib skeleton|rib series	http://purl.obolibrary.org/obo/UBERON_0014478	Subdivision of skeletal system that consists of all ribs and rib joints in an organism. In many vertebrates this consists of the combination of the rib cage and all rib joints, but some vertebrates have ribs outside the thoracic rib cage.	
MONDO:0005870	necatoriasis	biolink:Disease	mondo	ICD10:B76.1|NCIT:C34838|UMLS:C0027528|SCTID:36667009|MESH:D009332|EFO:0007390|DOID:2790|ICD9:126.9			http://purl.obolibrary.org/obo/MONDO_0005870	A disorder caused by an infection with hookworms of the genus Necator, which settle in the host's small intestine, and cause abdominal pain, diarrhea, weight loss, and anemia.	NCIT:C34838|DOID:2790|SNOMEDCT:36667009|UMLS:C0027528|MESH:D009332
MONDO:0003210	intrahepatic cholangiocarcinoma	biolink:Disease	mondo	ONCOTREE:IHCH|COHD:4001664|DOID:4928|NCIT:C35417|ICD10:C22.1|SCTID:109842005|GARD:0006042|UMLS:C0345905|EFO:1001961	gard_rare	peripheral cholangiocarcinoma|IHCH|intrahepatic Cholangiocellular carcinoma|intrahepatic carcinoma of the bile duct|intrahepatic carcinoma of bile duct|intrahepatic cholangiocarcinoma (bile duct cancer)|cholangiocarcinoma, intrahepatic, malignant|intrahepatic bile duct cancer (cholangiocarcinoma)|intrahepatic bile duct carcinoma|intrahepatic cholangiocarcinoma|ICC	http://purl.obolibrary.org/obo/MONDO_0003210	A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor.	DOID:4928|SNOMEDCT:109842005|NCIT:C35417|UMLS:C0345905
MONDO:0005873	neuroaspergillosis	biolink:Disease	mondo	UMLS:C0752342|MESH:D020953|EFO:0007393|DOID:13565			http://purl.obolibrary.org/obo/MONDO_0005873	Infections of the nervous system caused by fungi of the genus aspergillus, most commonly aspergillus fumigatus. Aspergillus infections may occur in immunocompetent hosts, but are more prevalent in individuals with immunologic deficiency syndromes. The organism may spread to the nervous system from focal infections in the lung, mastoid region, sinuses, inner ear, bones, eyes, gastrointestinal tract, and heart. Sinus infections may be locally invasive and enter the intracranial compartment, producing meningitis, fungal; cranial neuropathies; and abscesses in the frontal lobes of the brain. (From Joynt, Clinical Neurology, 1998, Ch 27, pp62-3)	DOID:13565|MESH:D020953|UMLS:C0752342
MONDO:0005872	nervous system cancer	biolink:Disease	mondo	DOID:3093|MESH:D009423|NCIT:C4788|ICD9:192|ICD9:192.9|ICD9:192.8|EFO:0007392|SCTID:372063002		cancer of nervous system|neural neoplasm|nervous system neoplasm|malignant tumor of nervous system|malignant tumor of the nervous system|malignant neoplasm of nervous system|nervous system neoplasms, malignant|neoplasm of nervous system|nervous system cancer|neural tumor|malignant neoplasm of the nervous system|malignant nervous system tumor|malignant nervous system neoplasm|tumor of the nervous system	http://purl.obolibrary.org/obo/MONDO_0005872	A primary or metastatic malignant neoplasm involving the nervous system.	DOID:3093|NCIT:C4788|MESH:D009423|SNOMEDCT:372063002
MONDO:0003211	nasal cavity adenocarcinoma	biolink:Disease	mondo	DOID:4930|UMLS:C1334920|NCIT:C6015		adenocarcinoma of nasal cavity|adenocarcinoma of the nasal cavity|nasal cavity adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003211	A carcinoma that arises from glandular epithelial cells of the nasal cavity	DOID:4930|NCIT:C6015|UMLS:C1334920
MONDO:0017839	classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form	biolink:Disease	mondo	Orphanet:315306|ICD10:E25.0	ordo_clinical_subtype	classic 21-OHD CAH, salt wasting form	http://purl.obolibrary.org/obo/MONDO_0017839	The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency.	ORPHA:315306
HP:0031097	Abnormal thyroid-stimulating hormone level	biolink:PhenotypicFeature	mondo			Abnormal thyrotropin level|Abnormal TSH level|Abnormal circulating thyrotropin concentration	http://purl.obolibrary.org/obo/HP_0031097	Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.	
UBERON:0014477	thoracic skeleton	biolink:AnatomicalEntity	mondo			thoracic skeleton|thoracic part of axial skeleton|skeleton of thorax	http://purl.obolibrary.org/obo/UBERON_0014477	Subdivision of skeletal system that consists of all skeletal elements in the thoracic region of the trunk. In most vertebrates this is the rib cage and sternum.	
MONDO:0017846	autosomal dominant spastic ataxia	biolink:Disease	mondo	Orphanet:316235|UMLS:CN229111|ICD10:G11.4	ordo_group_of_disorders	spastic ataxia, autosomal dominant|AD-SPAX	http://purl.obolibrary.org/obo/MONDO_0017846	Autosomal dominant form of spastic ataxia.	ORPHA:316235|UMLS:CN229111
MONDO:0017847	autosomal recessive spastic ataxia	biolink:Disease	mondo	Orphanet:316240|ICD10:G11.8|UMLS:CN229112	ordo_group_of_disorders	spastic ataxia, autosomal recessive|AR-SPAX	http://purl.obolibrary.org/obo/MONDO_0017847	Autosomal recessive form of spastic ataxia.	ORPHA:316240|UMLS:CN229112
MONDO:0017848	partial deletion of the short arm of chromosome 12	biolink:Disease	mondo	ICD10:Q93.5|MESH:C538302|Orphanet:316244	ordo_group_of_disorders	partial deletion of the short arm of chromosome type 12|partial deletion of chromosome 12p|partial monosomy of the short arm of chromosome 12|partial monosomy of chromosome 12p	http://purl.obolibrary.org/obo/MONDO_0017848		MESH:C538302|ORPHA:316244
MONDO:0017849	Siegler-Brewer-Carey syndrome	biolink:Disease	mondo	SCTID:721076000|UMLS:C2931473|MESH:C537335|GARD:0004867|Orphanet:3167	gard_rare|ordo_malformation_syndrome	Siegler Brewer Carey syndrome|fatal multisystem syndrome involving the eyes, ears, lungs, intestines, and kidneys	http://purl.obolibrary.org/obo/MONDO_0017849	Siegler-Brewer-Carey syndrome is characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. It has been recently described in two sibs born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed.	SNOMEDCT:721076000|MESH:C537335|UMLS:C2931473|ORPHA:3167
MONDO:0017842	Senior-Loken syndrome	biolink:Disease	mondo	Orphanet:3156|DOID:0050576|UMLS:CN117960|ICD10:Q61.5|MESH:C537580|OMIMPS:266900|GARD:0000322	ordo_disease	SLSN|Loken Senior syndrome|renal dysplasia-retinal aplasia syndrome|renal dysplasia retinal aplasia|Senior Loken syndrome|nephronophthisis with retinal dystrophy|renal-retinal syndrome	http://purl.obolibrary.org/obo/MONDO_0017842	Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.	MESH:C537580|DOID:0050576|UMLS:CN117960|ORPHA:3156
MONDO:0017843	congenital pulmonary sequestration	biolink:Disease	mondo	UMLS:C4020703|SCTID:18620009|GARD:0004593|MESH:D001998|Orphanet:3161|NCIT:C97124|ICD10:Q33.2	ordo_malformation_syndrome	pulmonary sequestration|bronchopulmonary sequestration|congenital bronchopulmonary sequestration|sequestered lobe (pulmonary sequestration)|congenital sequestration of lung	http://purl.obolibrary.org/obo/MONDO_0017843	A rare congenital abnormality of the lungs. It consists of a mass of lung parenchyma that does not communicate with the bronchial tree and receives its blood supply from the systemic circulation instead of the pulmonary circulation.	UMLS:C4020703|MESH:D001998|NCIT:C97124|ORPHA:3161|SNOMEDCT:18620009
MONDO:0017844	Sezary syndrome	biolink:Disease	mondo	ICD9:202.2|EFO:1000785|ICD10:C84.10|SCTID:118611004|ICDO:9701/3|NCIT:C3366|DOID:8541|ICD10:C84.1|ONCOTREE:SS|Orphanet:3162|GARD:0007629|UMLS:C0036920|MESH:D012751|MedDRA:10040500|MedDRA:10040493	ordo_disease	SC)zary syndrome|CTCL / Sezary syndrome|cutaneous T-cell lymphoma/Sezary syndrome|Sézary syndrome|Sezary disease|Sezary lymphoma|Sezary's disease|Sézary lymphoma|Sezary syndrome|SS|Sezary's lymphoma	http://purl.obolibrary.org/obo/MONDO_0017844	Sezary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sezary cells).	MEDDRA:10040493|MESH:D012751|UMLS:C0036920|SNOMEDCT:118611004|ORPHA:3162|NCIT:C3366|DOID:8541
MONDO:0017845	spastic ataxia	biolink:Disease	mondo	ICD10:G11.4|DOID:0050952|OMIMPS:108600|Orphanet:316226|MESH:C564815|UMLS:C1849156	ordo_group_of_disorders	SPAX	http://purl.obolibrary.org/obo/MONDO_0017845		ORPHA:316226|DOID:0050952|UMLS:C1849156|MESH:C564815
CHEBI:25806	oxygen molecular entity	biolink:ChemicalSubstance	mondo			oxygen molecular entity|oxygen molecular entities	http://purl.obolibrary.org/obo/CHEBI_25806		
CHEBI:25805	oxygen atom	biolink:ChemicalSubstance	mondo			8O|oxygene|oxygen|oxygen|O|oxigeno|Sauerstoff	http://purl.obolibrary.org/obo/CHEBI_25805		
MONDO:0017840	classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form	biolink:Disease	mondo	Orphanet:315311|ICD10:E25.0	ordo_clinical_subtype	classic 21-OHD CAH, simple virilizing form	http://purl.obolibrary.org/obo/MONDO_0017840	The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting.	ORPHA:315311
MONDO:0017841	autoimmune disease with skin involvement	biolink:Disease	mondo	DOID:0060039|UMLS:CN203818|Orphanet:315350	ordo_group_of_disorders	integument hypersensitivity reaction type II disease|autoimmune disease of skin and connective tissue|skin of body hypersensitivity reaction type II disease	http://purl.obolibrary.org/obo/MONDO_0017841	A hypersensitivity reaction type II disease that involves the skin of body.	ORPHA:315350|DOID:0060039|UMLS:CN203818
MONDO:0003209	thymus gland adenocarcinoma	biolink:Disease	mondo	UMLS:C1336743|DOID:4923|NCIT:C6459		adenocarcinoma of the Thymus|adenocarcinoma of Thymus|thymic adenocarcinoma|Thymus adenocarcinoma|thymus adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003209	A rare primary thymic carcinoma, characterized by the presence of carcinoma cells with glandular differentiation.	DOID:4923|NCIT:C6459|UMLS:C1336743
UBERON:0002495	long bone	biolink:AnatomicalEntity	mondo			os longum	http://purl.obolibrary.org/obo/UBERON_0002495	Long bone is a limb bone that is subcylindrical and has a shaft with periosteum separating the ends of the bones. Long bones are present only in the limbs[VSAO:wd].	
GO:0071333	cellular response to glucose stimulus	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0071333	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus.	
GO:0071331	cellular response to hexose stimulus	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0071331	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus.	
UBERON:0002515	periosteum	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0002515	the thick fibrous membrane that closely invests the entire surface of a bone except the articular cartilage at synovial joints	
UBERON:0002514	intramembranous bone	biolink:AnatomicalEntity	mondo			membrane bone|intramembranous bones	http://purl.obolibrary.org/obo/UBERON_0002514	Bone tissue forms directly within mesenchyme, and does not replace other tissues[TAO]. Intramembranous ossification is the formation of bone in which osteoblasts secrete a collagen-proteoglycan matrix that binds calcium salts and becomes calcified[GO]. Intramembranous ossification is the way flat bones and the shell of a turtle are formed[GO]. Unlike endochondral ossification, cartilage is not present during intramembranous ossification[WP].	
UBERON:0002517	basicranium	biolink:AnatomicalEntity	mondo			basis cranii|base of cranium|cranial base|base of skull	http://purl.obolibrary.org/obo/UBERON_0002517	The base of skull is the most inferior area of the skull, composed of the endocranium and lower parts of the skull roof.	
UBERON:0014501	proximal phalanx of digit 1	biolink:AnatomicalEntity	mondo			digit I P1|proximal phalanx of digit I|proximal phalanx of first digit of autopod|first proximal phalanx of autopod|digit I-1	http://purl.obolibrary.org/obo/UBERON_0014501	A proximal phalanx that is part of a autopod digit 1 [Automatically generated definition].	
CHEBI:62761	tyrosine derivative	biolink:ChemicalSubstance	mondo			tyrosine derivatives	http://purl.obolibrary.org/obo/CHEBI_62761	An amino acid derivative resulting from reaction of tyrosine at the amino group or the carboxy group, any substitution of phenyl hydrogens, or from the replacement of any hydrogen of tyrosine by a heteroatom. The definition normally excludes peptides containing tyrosine residues.	
HP:0031263	Abnormal renal corpuscle morphology	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0031263	Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule.	
CHEBI:35134	metalloprotein	biolink:ChemicalSubstance	mondo			metalloprotein|metalloproteine|metalloproteins	http://purl.obolibrary.org/obo/CHEBI_35134		
CHEBI:35137	hemoprotein	biolink:ChemicalSubstance	mondo			Haemprotein|hemoproteins|hemoprotein|heme protein|hemeproteins|haemoprotein|Haemoprotein|haem protein	http://purl.obolibrary.org/obo/CHEBI_35137	Conjugated proteins containing heme as the prosthetic group.	
CHEBI:35136	iron protein	biolink:ChemicalSubstance	mondo			iron protein|iron-containing proteins|iron proteins	http://purl.obolibrary.org/obo/CHEBI_35136		
UBERON:0002522	tunica media	biolink:AnatomicalEntity	mondo			tunica media vasorum	http://purl.obolibrary.org/obo/UBERON_0002522	The middle layer of an artery or vein. [WP,unvetted].	
UBERON:0002521	elastic tissue	biolink:AnatomicalEntity	mondo			elastic connective tissue|elastic fiber|textus connectivus elasticus	http://purl.obolibrary.org/obo/UBERON_0002521	Connective tissue composed of elastic fibers.	
UBERON:0002523	tunica intima	biolink:AnatomicalEntity	mondo			Bichat's tunic|intima|tunica intima vasorum	http://purl.obolibrary.org/obo/UBERON_0002523	The innermost layer of a blood vessel which is a lining of endothelial cells facing the lumen[Kardong].	
UBERON:0002507	abdominal lymph node	biolink:AnatomicalEntity	mondo			parietal abdominal lymph node|abdomen lymph node|lymph node of abdomen	http://purl.obolibrary.org/obo/UBERON_0002507	A lymph node that is part of an abdomen [Automatically generated definition].	
UBERON:0002509	mesenteric lymph node	biolink:AnatomicalEntity	mondo			nodi lymphoidei mesenterici|mesenteric node	http://purl.obolibrary.org/obo/UBERON_0002509	The lymph nodes located in the mesentery, of which there are 3 classes: ileocolic, juxtaintestinal mesenteric, and central superior group.	
UBERON:0002506	iris epithelium	biolink:AnatomicalEntity	mondo			epithelium of iris|epithelium pigmentosum iridis|epithelium pigmentosum (iris)|iris epithelial tissue|pigmented epithelium of iris|epithelial tissue of iris|iris epithelium|iris pigmented epithelium	http://purl.obolibrary.org/obo/UBERON_0002506	An epithelium that is part of a iris [Automatically generated definition].	
UBERON:0002513	endochondral bone	biolink:AnatomicalEntity	mondo			cartilaginous bone|endochondral bones|ossified chondrogenic bone	http://purl.obolibrary.org/obo/UBERON_0002513	Replacement bone that forms within cartilage.	
UBERON:0002512	corpus luteum	biolink:AnatomicalEntity	mondo			corpus luteum of ovary|corpora lutea|ovarian corpus luteum|luteal gland	http://purl.obolibrary.org/obo/UBERON_0002512	A transient endocrine gland that develops from the postovulatory or atretic follicles and secretes progesterone; it is thought to be related to egg retention[PMID].	
CHEBI:35143	hemoglobin	biolink:ChemicalSubstance	mondo			haemoglobin|vertebrate haemoglobin|hemoglobin	http://purl.obolibrary.org/obo/CHEBI_35143		
CHEBI:23132	chlorobenzenes	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_23132	Any organochlorine compound containing a benzene ring which is substituted by one or more chlorines.	
GO:0046504	glycerol ether biosynthetic process	biolink:OntologyClass	mondo			glycerol ether anabolism|glycerol ether synthesis|glycerol ether formation|glycerol ether biosynthesis	http://purl.obolibrary.org/obo/GO_0046504	The chemical reactions and pathways resulting in the formation of glycerol ethers, any anhydride formed between two organic hydroxy compounds, one of which is glycerol.	
GO:0010512	negative regulation of phosphatidylinositol biosynthetic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010512	Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phosphatidylinositol.	
GO:0010513	positive regulation of phosphatidylinositol biosynthetic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010513	Any process that increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phosphatidylinositol.	
GO:0010511	regulation of phosphatidylinositol biosynthetic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010511	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phosphatidylinositol.	
CHEBI:23114	chloride salt	biolink:ChemicalSubstance	mondo			chlorides|chloride salts	http://purl.obolibrary.org/obo/CHEBI_23114		
CHEBI:23117	chlorine molecular entity	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_23117	A halogen molecular entity containing one or more atoms of chlorine.	
UBERON:0002558	organ cavity	biolink:AnatomicalEntity	mondo			cavity of organ	http://purl.obolibrary.org/obo/UBERON_0002558		
CHEBI:23116	chlorine atom	biolink:ChemicalSubstance	mondo			chlorine|cloro|chlorum|17Cl|chlorine|chlore|Chlor|Cl	http://purl.obolibrary.org/obo/CHEBI_23116		
CHEBI:50733	nutraceutical	biolink:ChemicalSubstance	mondo			Food Supplementation|Nutritional supplement|Dietary Supplement	http://purl.obolibrary.org/obo/CHEBI_50733	A product in capsule, tablet or liquid form that provide essential nutrients, such as a vitamin, an essential mineral, a protein, an herb, or similar nutritional substance.	
UBERON:0014547	sacral division of spinal cord central canal	biolink:AnatomicalEntity	mondo			sacral spinal cord central canal|lumbosacral spinal cord central canal	http://purl.obolibrary.org/obo/UBERON_0014547	Part of spinal cord central canal contained in the sacral spinal cord. It is continuous rostrally with the spinal cord central canal of the lumbar cord.	
UBERON:0014540	white matter lamina of cerebellum	biolink:AnatomicalEntity	mondo			isthmus gyri cingulatus|white lamina of cerebellum|white laminae of cerebellum|laminae albae of cerebellar cortex|isthmus of gyrus fornicatus|isthmus of the cingulate gyrus|laminae albae of cerebellar cortex|isthmus-2|isthmus cinguli|isthmus gyri cinguli|lamina alba of cerebellar cortex	http://purl.obolibrary.org/obo/UBERON_0014540	The white laminae of cerebellum is subdivision of the cerebellar cortex comprised of myelinated axons lying deep to the granule cell layer of the cerebellar cortex.	
UBERON:0014541	thoracic division of spinal cord central canal	biolink:AnatomicalEntity	mondo			thoracic spinal cord central canal	http://purl.obolibrary.org/obo/UBERON_0014541	Part of spinal cord central canal contained in the thoracic spinal cord. It is continuous rostrally with the cervical spinal cord central canal and caudally with the lumbar spinal cord central canal.	
UBERON:0014542	cervical division of cord spinal central canal	biolink:AnatomicalEntity	mondo			cervical spinal cord central canal	http://purl.obolibrary.org/obo/UBERON_0014542	Part of central canal contained within the cervical spinal cord. It is continuous caudally with the thoracic spinal cord central canal and rostrally with the fourth ventricle of the brain via the obex	
UBERON:0014543	lumbar division of spinal cord central canal	biolink:AnatomicalEntity	mondo			lumbar spinal cord central canal	http://purl.obolibrary.org/obo/UBERON_0014543	Part of central canal lying within the lumbar spinal cord. It is continuous rostrally with the central canal of the thoracic spinal cord and caudally with the central canal of the sacral spinal cord.	
UBERON:0014538	subdivision of spinal cord central canal	biolink:AnatomicalEntity	mondo			regional part of spinal cord central canal	http://purl.obolibrary.org/obo/UBERON_0014538	A subdivision of the central canal of the spinal cord along its anterior-posterior axis. This is typically subdivided into cervical, thoracic, lumbar and sacral segments	
CHEBI:74783	astringent	biolink:ChemicalSubstance	mondo			adstringents|astringents|adstringent	http://purl.obolibrary.org/obo/CHEBI_74783	A compound that causes the contraction of body tissues, typically used to reduce bleeding from minor abrasions.	
UBERON:0002561	lumen of central nervous system	biolink:AnatomicalEntity	mondo			cavity of neuraxis|neuraxis lumen|neuraxis cavity|cavity of ventricular system of neuraxis	http://purl.obolibrary.org/obo/UBERON_0002561	The cavity that is enclosed by the central nervous system. In vertebrates this is the cavity that includes as parts ventricular cavities and the central canal of the spinal cord that develops from the lumen of the neura tube	
CHEBI:23123	chloroacetate	biolink:ChemicalSubstance	mondo			monochloroacetic acid anion|monochloroacetate anion|mono-chloroacetate|chloroacetate|chloroacetate(1-)|Chloroacetic acid ion(1-)|chloroacetate anion	http://purl.obolibrary.org/obo/CHEBI_23123	A haloacetate(1-) resulting from the deprotonation of the carboxy group of chloroacetic acid.	
UBERON:0014530	white matter lamina of neuraxis	biolink:AnatomicalEntity	mondo			lamina of neuraxis|neuraxis lamina	http://purl.obolibrary.org/obo/UBERON_0014530		
UBERON:0014531	white matter lamina of diencephalon	biolink:AnatomicalEntity	mondo			diencephalon lamina|lamina of diencephalon	http://purl.obolibrary.org/obo/UBERON_0014531		
UBERON:0014532	white matter lamina of cerebral hemisphere	biolink:AnatomicalEntity	mondo			cerebral hemisphere lamina|lamina of cerebral hemisphere	http://purl.obolibrary.org/obo/UBERON_0014532		
CHEBI:35106	nitrogen hydride	biolink:ChemicalSubstance	mondo			nitrogen hydrides	http://purl.obolibrary.org/obo/CHEBI_35106		
CHEBI:35107	azane	biolink:ChemicalSubstance	mondo			azanes	http://purl.obolibrary.org/obo/CHEBI_35107	Saturated acyclic nitrogen hydrides having the general formula NnHn+2.	
UBERON:0002553	anatomical cavity	biolink:AnatomicalEntity	mondo			cavity	http://purl.obolibrary.org/obo/UBERON_0002553	Anatomical space which contains portions of one or more body substances and is bounded by the internal surface of one maximally connected anatomical structure. Examples: cranial cavity, pharyngeal recess space, nasal cavity, tooth socket, cavity of serous sac, lumen of stomach, lumen of artery, fornix of vagina.	
UBERON:0002539	pharyngeal arch	biolink:AnatomicalEntity	mondo			pharyngeal arches|branchial arch|arcus pharyngei|visceral arch	http://purl.obolibrary.org/obo/UBERON_0002539	One of a series of paired bulges that develop along the lateral walls of the foregut. The pharyngeal arches have developmental contributions from endoderm, mesoderm, and neural crest cells and are separated by anterior lateral endoderm out-pockets known as pharyngeal pouches.	
PATO:0000587	decreased size	biolink:OntologyClass	mondo			reduced|underdeveloped|small|hypoplasia|tiny	http://purl.obolibrary.org/obo/PATO_0000587	A size quality which is relatively low.	
PATO:0000586	increased size	biolink:OntologyClass	mondo			great|large|expanded|enlarged|big	http://purl.obolibrary.org/obo/PATO_0000586	A size quality which is relatively high.	
CHEBI:84124	D-tyrosine derivative	biolink:ChemicalSubstance	mondo			D-tyrosine derivatives	http://purl.obolibrary.org/obo/CHEBI_84124	A non-proteinogenic amino acid derivative resulting from reaction of D-tyrosine at the amino group or the carboxy group, or from the replacement of any hydrogen of D-tyrosine by a heteroatom.	
HGNC:9208	POR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9208		
HP:0031247	Whooping cough	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0031247	A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air.	
CHEBI:37734	phosphoric ester	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_37734		
UBERON:0002544	digit	biolink:AnatomicalEntity	mondo			acropodial unit|digit (phalangeal portion) plus soft tissue|limb digit	http://purl.obolibrary.org/obo/UBERON_0002544	A subdivision of the autopod that has as part a series of phalanges together with associated vasculature, musculature, integument and nerves. It is continuous with the metapodial subdivision of the autopod, but does not include the metapodials. In species such as humans, fully formed digits are distinct, whereas in other species the digits may be connected by interdigital webbing, or may be completely unseparated (for example, in cetaceans).	
UBERON:0002546	cranial placode	biolink:AnatomicalEntity	mondo			ectodermal cranial placode|placode|ectodermal placode|cranial placodes	http://purl.obolibrary.org/obo/UBERON_0002546	Ectodermal placode that develops in the head into a part of the sensory nervous system. With a few exceptions (lens, adenohypophyseal), cranial placodes are neurogenic.	
HGNC:9204	PON1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9204		
HGNC:9201	POMC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9201		
HGNC:9202	POMT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9202		
UBERON:0002529	limb segment	biolink:AnatomicalEntity	mondo			segment of limb|limb region|region of limb|extremity part|free limb segment|subdivision of limb	http://purl.obolibrary.org/obo/UBERON_0002529	A major subdivision of a mature or developing limb, including both skeletal elements (or the mesenchyme that gives rise to the skeletal elements) and associated tissues, such as muscle, connective tissue, integument. Examples: autopod region, zeugopod region, stylopod region, metapodial region, arm region. Excludes the limb girdles.	
UBERON:0002528	sacral lymph node	biolink:AnatomicalEntity	mondo			sacral node	http://purl.obolibrary.org/obo/UBERON_0002528	A lymph node located in the sacral region.	
UBERON:0002527	pancreatic lymph node	biolink:AnatomicalEntity	mondo			pancreas lymph node|lymph node of pancreas|pancreatic node|pyloric lymph node|aJCC level 19 node	http://purl.obolibrary.org/obo/UBERON_0002527	A lymph node that is part of a pancreas [Automatically generated definition].	
HGNC:9217	POU3F4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9217		
HP:0031258	Delirium	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0031258	A state of sudden and severe confusion.	
UBERON:0014505	proximal phalanx of digit 5	biolink:AnatomicalEntity	mondo			fifth digit proximal phalanx|digit V P1|proximal phalanx of little digit|5th digit proximal phalanx|5th digit of autopod proximal phalanx|proximal phalanx of 5th digit|autopod digit 5 proximal phalanx|proximal phalanx of fifth digit|proximal phalanx of digit V|digit V-1|proximal phalanx of fifth digit of autopod|fifth proximal phalanx of autopod|proximal phalanx of 5th digit of autopod	http://purl.obolibrary.org/obo/UBERON_0014505	A proximal phalanx that is part of a autopod digit 5 [Automatically generated definition].	
HGNC:9210	POU1F1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9210		
UBERON:0002533	post-anal tail bud	biolink:AnatomicalEntity	mondo			end bud|tail bud mesenchyme|tailbud|tail bud	http://purl.obolibrary.org/obo/UBERON_0002533	The rapidly proliferating mass of cells at the caudal extremity of the embryo; remnant of the primitive node.	
UBERON:0002532	epiblast (generic)	biolink:AnatomicalEntity	mondo			epiblast|ectoblast|blastocyst|primitive ectoderm|epiblastus	http://purl.obolibrary.org/obo/UBERON_0002532	In amniote animal embryology, the epiblast is a tissue type derived either from the inner cell mass in mammals or the blastodisc in birds and reptiles. It lies above the hypoblast. In mammalian embryogenesis, the columnar cells of the epiblast are adjacent to the trophoblast, while the cuboidal cells of the hypoblast are closer to the blastocoele. The epiblast, whilst referred to as the primary ectoderm, differentiates to form all three layers of the trilaminar germ disc in a process called gastrulation[WP]. The outer of the two layers of the blastoderm that form during gastrulation, corresponding to primitive ectoderm during gastrulation and to the definitive ectoderm after gastrulation[ZFA]	
UBERON:0002530	gland	biolink:AnatomicalEntity	mondo			glandular organ|Druese|glandula	http://purl.obolibrary.org/obo/UBERON_0002530	an organ that functions as a secretory or excretory organ	
MONDO:0015090	autosomal recessive pure spastic paraplegia	biolink:Disease	mondo	UMLS:CN228910|ICD10:G11.4|Orphanet:100982	ordo_group_of_disorders	autosomal recessive uncomplicated spastic paraplegia|autosomal recessive uncomplicated HSP|pure hereditary spastic paraplegia, autosomal recessive|autosomal recessive pure SPG|autosomal recessive pure HSP|autosomal recessive uncomplicated SPG|autosomal recessive pure hereditary spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0015090	Autosomal recessive form of pure hereditary spastic paraplegia.	ORPHA:100982|UMLS:CN228910
MONDO:0015094	subependymal nodular heterotopia	biolink:Disease	mondo	MedDRA:10071150|GARD:0005050|UMLS:C3160906|SCTID:699812002|ICD9:742.4|ICD10:Q04.8|Orphanet:101030	gard_rare|ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0015094		SNOMEDCT:699812002|ORPHA:101030|MEDDRA:10071150|UMLS:C3160906
MONDO:0015093	sub-cortical nodular heterotopia	biolink:Disease	mondo	Orphanet:101029|ICD10:Q04.8	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0015093		ORPHA:101029
MONDO:0015092	cleft hard palate	biolink:Disease	mondo	ICD10:Q35.1|SCTID:448915004|Orphanet:101023	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0015092		SNOMEDCT:448915004|ORPHA:101023
MONDO:0015091	autosomal dominant spastic paraplegia type 9	biolink:Disease	mondo	ICD10:G11.4|Orphanet:100990|GARD:0009583	ordo_disease	bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy|spastic paraplegia 9|spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome|autosomal dominant spastic paraparesis|cataracts, motor neuronopathy, short stature and skeletal abnormalities|SPG9|autosomal dominant complex spastic paraplegia caused by mutation in ALDH18A1|cataracts-motor neuropathy-short stature-skeletal anomalies syndrome|ALDH18A1 autosomal dominant complex spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0015091	Any autosomal dominant complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene.	ORPHA:100990|UMLS:C1832669
HP:0008873	Disproportionate short-limb short stature	biolink:PhenotypicFeature	mondo	UMLS:C1849937	hposlim_core	Dwarfism, short-limbed|Micromelic dwarfism|Brachymelic dwarfism|Short-limbed dwarfism|Short stature, disproportionate short-limb|Disproportionate short limb dwarfism|Short limb dwarfism, disproportionate|Short-limb dwarfism|Short limb dwarfism|Short stature, disproportionate short limb	http://purl.obolibrary.org/obo/HP_0008873	A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.	
MONDO:0015098	obsolete situs inversus totalis (disease)	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015098		
MONDO:0015097	aortic valve dysplasia	biolink:Disease	mondo	ICD10:Q23.0|ICD9:746.89|Orphanet:101043|SCTID:253604004	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0015097		UMLS:C0344993|SNOMEDCT:253604004|ORPHA:101043
MONDO:0015096	familial hypofibrinogenemia	biolink:Disease	mondo	Orphanet:101041|ICD10:D68.2|GARD:0002887|UMLS:CN197419	gard_rare|ordo_clinical_subtype	hypofibrinogenemia, familial	http://purl.obolibrary.org/obo/MONDO_0015096	Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration.	ORPHA:101041|UMLS:CN197419
MONDO:0015095	Peters anomaly-cataract syndrome	biolink:Disease	mondo	UMLS:C2931652|MESH:C537885|ICD10:Q13.3|Orphanet:101033	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0015095		MESH:C537885|ORPHA:101033|UMLS:C2931652
MONDO:0015099	unilateral hemispheric polymicrogyria	biolink:Disease	mondo	ICD10:Q04.3|Orphanet:101071	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0015099		ORPHA:101071
MONDO:0015083	nuclear oculomotor paralysis	biolink:Disease	mondo	Orphanet:100932	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015083		ORPHA:100932
MONDO:0015082	alopecia antibody deficiency	biolink:Disease	mondo	Orphanet:1006	ordo_disease	IPP-Gelfand syndrome	http://purl.obolibrary.org/obo/MONDO_0015082		ORPHA:1006
MONDO:0015081	neuroendocrine tumor with other location	biolink:Disease	mondo	UMLS:CN197376|Orphanet:100101	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015081		ORPHA:100101|UMLS:CN197376
MONDO:0015080	obsolete thymic tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015080		
MONDO:0027069	mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1	biolink:Disease	mondo	OMIM:500015|DOID:0111748		MC5DM1|mitochondrial complex V (ATP synthase) deficiency, mitochondrial type 1; MC5DM1	http://purl.obolibrary.org/obo/MONDO_0027069		http://identifiers.org/omim/500015|DOID:0111748
MONDO:0027068	mitochondrial complex 1 deficiency, mitochondrial type 1	biolink:Disease	mondo	OMIM:500014		mitochondrial complex I deficiency, mitochondrial type 1; MC1DM1	http://purl.obolibrary.org/obo/MONDO_0027068	Any mitochondrial complex 1 deficiency, mitochondrial type 1, in which the cause of the disease is a mutation in the MTND3 gene.	http://identifiers.org/omim/500014
MONDO:0054691	immunodeficiency, common variable, 14	biolink:Disease	mondo	UMLS:C4540380|OMIM:617765		immunodeficiency, COMMON variable, 14; CVID14|CVID14	http://purl.obolibrary.org/obo/MONDO_0054691		http://identifiers.org/omim/617765|UMLS:C4540380
CHEBI:59174	hapten	biolink:ChemicalSubstance	mondo			haptens	http://purl.obolibrary.org/obo/CHEBI_59174	Any substance capable of eliciting an immune response only when attached to a large carrier such as a protein. Examples include dinitrophenols; oligosaccharides; peptides; and heavy metals.	
ECTO:0000481	transition element molecular entity exposure	biolink:OntologyClass	mondo			exposure to transition element molecular entity	http://purl.obolibrary.org/obo/ECTO_0000481	An exposure to transition element molecular entity.	
MONDO:0015087	autosomal dominant complex spastic paraplegia	biolink:Disease	mondo	UMLS:CN226593|Orphanet:100979|ICD10:G11.4	ordo_group_of_disorders	autosomal dominant complicated HSP|autosomal dominant complex SPG|autosomal dominant complex hereditary spastic paraplegia|autosomal dominant complicated spastic paraplegia|autosomal dominant complex HSP|complex hereditary spastic paraplegia, autosomal dominant|autosomal dominant complicated SPG	http://purl.obolibrary.org/obo/MONDO_0015087	Autosomal dominant form of complex hereditary spastic paraplegia.	ORPHA:100979|UMLS:CN226593
MONDO:0054695	myopathy, centronuclear, 6, with fiber-type disproportion	biolink:Disease	mondo	UMLS:C4540345|OMIM:617760|DOID:0111221		myopathy, centronuclear, 6, with FIBER-type disproportion; CNM6|CNM6	http://purl.obolibrary.org/obo/MONDO_0054695		DOID:0111221|http://identifiers.org/omim/617760|UMLS:C4540345
MONDO:0015086	cloverleaf skull-asphyxiating thoracic dysplasia syndrome	biolink:Disease	mondo	GARD:0000853|ICD10:Q87.5|UMLS:CN197384|Orphanet:100978	gard_rare|ordo_malformation_syndrome	Benallegue-Lacete syndrome|Benallegue Lacete syndrome|cloverleaf skull and asphyxiating thoracic dysplasia	http://purl.obolibrary.org/obo/MONDO_0015086		UMLS:CN197384|ORPHA:100978
ECTO:0000485	biological role exposure	biolink:OntologyClass	mondo			exposure to biological role	http://purl.obolibrary.org/obo/ECTO_0000485	An exposure to biological role.	
MONDO:0015085	bathing suit ichthyosis	biolink:Disease	mondo	SCTID:725588002|Orphanet:100976|UMLS:C4511230|ICD10:Q80.2	ordo_disease	BSI	http://purl.obolibrary.org/obo/MONDO_0015085	Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of large dark scales in specific areas of the body.	ORPHA:100976|SNOMEDCT:725588002|UMLS:C4511230
MONDO:0015084	FRAXF syndrome	biolink:Disease	mondo	Orphanet:100974|SCTID:716708005|UMLS:C4274329|UMLS:CN197382	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015084	FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established.	UMLS:CN197382|UMLS:C4274329|ORPHA:100974|SNOMEDCT:716708005
MONDO:0054699	proteasome-associated autoinflammatory syndrome 3	biolink:Disease	mondo	OMIM:617591		proteasome-associated autoinflammatory syndrome 3, digenic|PRAAS3|proteasome-associated autoinflammatory syndrome 3; PRAAS3	http://purl.obolibrary.org/obo/MONDO_0054699		http://identifiers.org/omim/617591
ECTO:0000487	chemical role exposure	biolink:OntologyClass	mondo			exposure to chemical role	http://purl.obolibrary.org/obo/ECTO_0000487	An exposure to chemical role.	
MONDO:0054698	proteasome-associated autoinflammatory syndrome 1	biolink:Disease	mondo	OMIM:256040		autoinflammation, lipodystrophy, and dermatosis syndrome|proteasome-associated autoinflammatory syndrome 1; PRAAS1|chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|JMP syndrome|joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy|Nakajo-Nishimura syndrome|PRAAS1|proteasome-associated autoinflammatory syndrome 1, digenic	http://purl.obolibrary.org/obo/MONDO_0054698		http://identifiers.org/omim/256040
ECTO:0000486	application exposure	biolink:OntologyClass	mondo			exposure to application	http://purl.obolibrary.org/obo/ECTO_0000486	An exposure to application.	
MONDO:0054697	immunodeficiency 11b with atopic dermatitis	biolink:Disease	mondo	OMIM:617638|UMLS:C4539957		atopic dermatitis, elevated IgE, and eosinophilia|immunodeficiency 11B with ATOPIC dermatitis; IMD11B|IMD11B	http://purl.obolibrary.org/obo/MONDO_0054697		UMLS:C4539957|http://identifiers.org/omim/617638
MONDO:0015089	autosomal recessive complex spastic paraplegia	biolink:Disease	mondo	UMLS:CN228909|ICD10:G11.4|Orphanet:100981	ordo_group_of_disorders	autosomal recessive complex SPG|complex hereditary spastic paraplegia, autosomal recessive|autosomal recessive complex HSP|autosomal recessive complicated SPG|autosomal recessive complex hereditary spastic paraplegia|autosomal recessive complicated HSP|autosomal recessive complicated spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0015089	Autosomal recessive form of complex hereditary spastic paraplegia.	ORPHA:100981|UMLS:CN228909
MONDO:0015088	autosomal dominant pure spastic paraplegia	biolink:Disease	mondo	UMLS:CN226594|ICD10:G11.4|Orphanet:100980	ordo_group_of_disorders	autosomal dominant pure HSP|autosomal dominant uncomplicated HSP|pure hereditary spastic paraplegia, autosomal dominant|autosomal dominant pure hereditary spastic paraplegia|autosomal dominant uncomplicated spastic paraplegia|autosomal dominant pure SPG|autosomal dominant uncomplicated SPG	http://purl.obolibrary.org/obo/MONDO_0015088	Autosomal dominant form of pure hereditary spastic paraplegia.	ORPHA:100980|UMLS:CN226594
MONDO:0054696	immunodeficiency 53	biolink:Disease	mondo	OMIM:617585|UMLS:C4539811		IMD53|immunodeficiency 53; IMD53	http://purl.obolibrary.org/obo/MONDO_0054696		UMLS:C4539811|http://identifiers.org/omim/617585
MONDO:0015072	liver neuroendocrine carcinoma	biolink:Disease	mondo	NCIT:C96787|Orphanet:100085|UMLS:C3273031|UMLS:CN197365|SCTID:716652006|ICD10:C22.7	ordo_disease	liver neuroendocrine cancer|liver neuroendocrine carcinoma|hepatic neuroendocrine carcinoma|primary hepatic neuroendocrine carcinoma|PHNEC|HNEC|neuroendocrine carcinoma of liver|primary liver neuroendocrine carcinoma	http://purl.obolibrary.org/obo/MONDO_0015072	An extremely rare, aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the liver.	UMLS:CN197365|ORPHA:100085|NCIT:C96787|UMLS:C3273031|SNOMEDCT:716652006
MONDO:0015071	middle ear neuroendocrine tumor	biolink:Disease	mondo	Orphanet:100084|UMLS:CN197364|UMLS:C4305468|SCTID:717918002	ordo_disease	neuroendocrine tumor of middle ear|middle ear neuroendocrine neoplasm|middle ear NET|middle ear neuroendocrine tumor|neuroendocrine neoplasm of middle ear|middle ear neuroendocrine tumor, well differentiated, low or intermediate grade	http://purl.obolibrary.org/obo/MONDO_0015071	A neuroendocrine neoplasm that involves the middle ear.	UMLS:CN197364|ORPHA:100084|UMLS:C4305468|SNOMEDCT:717918002
MONDO:0015070	laryngeal neuroendocrine neoplasm	biolink:Disease	mondo	Orphanet:100083|NCIT:C6023|DOID:5457|UMLS:C1334374|SCTID:707625001	ordo_disease	larynx neuroendocrine tumor|neuroendocrine neoplasm of larynx|neuroendocrine neoplasm of the larynx|larynx neuroendocrine neoplasm|larynx neuroendocrine tumor, well differentiated, low or intermediate grade|laryngeal neuroendocrine tumor|laryngeal neuroendocrine neoplasm|larynx neuroendocrine tumor|neuroendocrine tumor of larynx|larynx NET	http://purl.obolibrary.org/obo/MONDO_0015070	A benign or malignant neoplasm with neuroendocrine differentiation that arises from the larynx. This category includes paraganglioma, carcinoid tumor, small cell carcinoma, and large cell neuroendocrine carcinoma.	ORPHA:100083|SNOMEDCT:707625001|UMLS:C1334374|DOID:5457|NCIT:C6023
MONDO:0003087	mucoepidermoid breast carcinoma	biolink:Disease	mondo	NCIT:C5166|DOID:4679|UMLS:C1334813		breast mucoepidermoid carcinoma|mucoepidermoid carcinoma of breast|mucoepidermoid carcinoma of the breast|mucoepidermoid breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0003087	A carcinoma of the breast characterized by pools of mucin and islands of malignant squamous cells. Mucoepidermoid carcinomas of the breast are extremely rare.	NCIT:C5166|UMLS:C1334813|DOID:4679
MONDO:0003088	intramuscular hemangioma	biolink:Disease	mondo	NCIT:C3699|DOID:468|UMLS:C0205789|ICDO:9132/0		intramuscular hemangioma (morphologic abnormality)|intramuscular angioma	http://purl.obolibrary.org/obo/MONDO_0003088	A hemangioma arising from skeletal muscle.	UMLS:C0205789|NCIT:C3699|DOID:468
MONDO:0003089	extrahepatic bile duct mucoepidermoid carcinoma	biolink:Disease	mondo	DOID:4681|UMLS:C1332552|NCIT:C5862		extrahepatic bile duct mucoepidermoid carcinoma|mucoepidermoid carcinoma of the bile duct|bile duct mucoepidermoid carcinoma|mucoepidermoid carcinoma of bile duct	http://purl.obolibrary.org/obo/MONDO_0003089	A mucoepidermoid carcinoma that arises from the extrahepatic bile ducts.	NCIT:C5862|UMLS:C1332552|DOID:4681
MONDO:0003083	venous hemangioma	biolink:Disease	mondo	ICD9:228.09|UMLS:C0334532|SCTID:403968005|NCIT:C4296|ICDO:9122/0|DOID:467		Venous malformation|Venous angioma	http://purl.obolibrary.org/obo/MONDO_0003083	A rare slow growing benign tumor of aberrant and ectatic venous connections.	SNOMEDCT:403968005|NCIT:C4296|UMLS:C0334532|DOID:467
MONDO:0003084	uremic neuropathy	biolink:Disease	mondo	ICD9:357.4|SCTID:11659006|NCIT:C27055|DOID:4675|UMLS:C0268708			http://purl.obolibrary.org/obo/MONDO_0003084	Neuropathy resulting from uremia.	UMLS:C0268708|SNOMEDCT:11659006|DOID:4675|NCIT:C27055
MONDO:0003085	keratitis	biolink:Disease	mondo	ICD10:H16|UMLS:C0022568|MESH:D007634|ICD9:370.8|SCTID:5888003|ICD10:H16.9|DOID:4677|NCIT:C26805|COHD:374035|ICD9:370|ICD9:370.9		cornea inflammation|inflammation of cornea	http://purl.obolibrary.org/obo/MONDO_0003085	A corneal disease that is characterized by inflammation of the cornea.	UMLS:C0022568|NCIT:C26805|SNOMEDCT:5888003|DOID:4677|MESH:D007634
MONDO:0003086	thymic mucoepidermoid carcinoma	biolink:Disease	mondo	NCIT:C6457|DOID:4678|UMLS:C1334814		mucoepidermoid carcinoma of Thymus|thymic mucoepidermoid carcinoma|mucoepidermoid carcinoma of the Thymus|Thymus mucoepidermoid carcinoma|thymus mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0003086	A rare primary thymic carcinoma, characterized by the presence of squamous cells, intermediate type cells, and mucus-producing cells. Published information on clinical course is limited to single-case reports.	NCIT:C6457|UMLS:C1334814|DOID:4678
MONDO:0003080	obsolete indolent systemic mastocytosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003080		
MONDO:0003081	thalamic disease	biolink:Disease	mondo	MESH:D013786|NCIT:C85186|UMLS:C0039726|DOID:4662		dorsal plus ventral thalamus disease or disorder|disorder of dorsal plus ventral thalamus|disorder of dorsal plus ventral thalamus|disease of dorsal plus ventral thalamus|disease or disorder of dorsal plus ventral thalamus|dorsal plus ventral thalamus disease	http://purl.obolibrary.org/obo/MONDO_0003081	A disorder of the thalamus. Causes include brain neoplasms, cerebrovascular disorders, brain trauma, brain hypoxia, infections, and brain hemorrhage. Signs and symptoms include movement and sensory abnormalities, visual abnormalities, ataxia, and coma.	UMLS:C0039726|MESH:D013786|DOID:4662|NCIT:C85186
MONDO:0003082	filamentary keratitis	biolink:Disease	mondo	SCTID:51286002|UMLS:C0155077|ICD10:H16.12|ICD9:370.23|DOID:4664|COHD:380728			http://purl.obolibrary.org/obo/MONDO_0003082		SNOMEDCT:51286002|DOID:4664|UMLS:C0155077
CHEBI:59163	biomarker	biolink:ChemicalSubstance	mondo			biological marker	http://purl.obolibrary.org/obo/CHEBI_59163	A substance used as an indicator  of a biological state.	
MONDO:0015076	obsolete rare parathyroid tumor	biolink:Disease	mondo	Orphanet:100090	obsoletion_candidate|ordo_group_of_disorders	rare tumor of parathyroid gland	http://purl.obolibrary.org/obo/MONDO_0015076	Any of the forms of tumor of parathyroid gland that have a rare incidence.	ORPHA:100090
MONDO:0015075	thyroid gland carcinoma	biolink:Disease	mondo	UMLS:C0549473|SCTID:448216007|HP:0002890|NCIT:C4815|EFO:1000586|DOID:3963|MedDRA:10007476|Orphanet:100088	ordo_group_of_disorders	carcinoma of the thyroid gland|carcinoma of the thyroid|carcinoma of thyroid gland|carcinoma of thyroid|cancer of the thyroid|thyroid cancer, NOS|cancer of thyroid|thyroid cancer|head and neck cancer, thyroid|thyroid gland cancer|thyroid carcinoma|thyroid gland carcinoma	http://purl.obolibrary.org/obo/MONDO_0015075	A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic.	DOID:3963|ORPHA:100088|NCIT:C4815|MEDDRA:10007476|SNOMEDCT:448216007|UMLS:C0549473
MONDO:0015074	thyroid tumor	biolink:Disease	mondo	NCIT:C3414|ONCOTREE:THYROID|SCTID:127018007|EFO:0003841|ICD9:239.7|Orphanet:100087	ordo_group_of_disorders	tumor of the thyroid|tumor of thyroid|tumor of thyroid gland|neoplasm of the thyroid gland|neoplasm of the thyroid|neoplasm of thyroid|thyroid tumor|thyroid gland neoplasm (disease)|thyroid neoplasm|THYROID|neoplasm of thyroid gland|thyroid neoplasms|thyroid gland neoplasm|tumor of the thyroid gland|thyroid gland tumor	http://purl.obolibrary.org/obo/MONDO_0015074	A benign or malignant neoplasm affecting the thyroid gland.	ORPHA:100087|SNOMEDCT:127018007|NCIT:C3414
MONDO:0015073	gallbladder neuroendocrine tumor, grade 1/2	biolink:Disease	mondo	Orphanet:100086|NCIT:C96918|UMLS:CN197366|ICD10:C23|UMLS:C3273116	ordo_disease	gallbladder well differentiated endocrine tumor|gallbladder well differentiated endocrine tumor/carcinoma|gallbladder neuroendocrine tumor|gallbladder NET	http://purl.obolibrary.org/obo/MONDO_0015073	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the gallbladder.	UMLS:CN197366|ORPHA:100086|UMLS:C3273116|NCIT:C96918
MONDO:0015079	multiple polyglandular tumor	biolink:Disease	mondo	ICD10:D44.8|Orphanet:100094|UMLS:CN197373	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015079		UMLS:CN197373|ORPHA:100094
MONDO:0015078	obsolete gastroenteropancreatic neuroendocrine neoplasm	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015078		
MONDO:0015077	adrenal/paraganglial tumor	biolink:Disease	mondo	Orphanet:100091|UMLS:CN197370	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015077		UMLS:CN197370|ORPHA:100091
MONDO:0015061	neurogenic thoracic outlet syndrome	biolink:Disease	mondo	ICD10:G54.0|UMLS:C0751549|Orphanet:100073|SCTID:2040007	ordo_clinical_subtype	neurogenic TOS|neurogenic thoracic outlet compression syndrome|neurogenic costoclavicular syndrome|NTOS|neurogenic cervical rib syndrome	http://purl.obolibrary.org/obo/MONDO_0015061	Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS.	SNOMEDCT:2040007|ORPHA:100073|UMLS:C0751549
MONDO:0015060	mosaic trisomy 3	biolink:Disease	mondo	ICD10:Q92.1|Orphanet:100071|UMLS:CN073992|SCTID:764627005|GARD:0005342	ordo_malformation_syndrome	Mosaic trisomy type 3|trisomy 3 mosaicism|Mosaic trisomy chromosome 3	http://purl.obolibrary.org/obo/MONDO_0015060	Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities.	ORPHA:100071|SNOMEDCT:764627005|UMLS:CN073992
MONDO:0003098	mediastinal neural neoplasm	biolink:Disease	mondo	DOID:4691|NCIT:C6624|UMLS:C1334672		malignant mediastinal neurogenic neoplasm|neurogenic neoplasm of the mediastinum|neurogenic tumor of mediastinum|neurogenic neoplasm of mediastinum|mediastinal neural neoplasm|mediastinal neurogenic neoplasm|neurogenic tumor of the mediastinum|mediastinal neurogenic tumor|mediastinal neural tumor	http://purl.obolibrary.org/obo/MONDO_0003098	A neurogenic tumor that arises from the mediastinum. Neural tumors are the most common tumors that arise from the posterior mediastinum. Representative examples include Schwannoma, neurofibroma, and neuroblastoma.	NCIT:C6624|UMLS:C1334672|DOID:4691
MONDO:0003099	obsolete endophthalmitis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003099		
MONDO:0003094	obsolete mucoepidermoid thyroid carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003094		
MONDO:0027048	deafness, Y-linked 2	biolink:Disease	mondo	DOID:0111758|OMIM:400047		DFNY2	http://purl.obolibrary.org/obo/MONDO_0027048		DOID:0111758|http://identifiers.org/omim/400047
MONDO:0003095	laryngeal mucoepidermoid carcinoma	biolink:Disease	mondo	DOID:4688|UMLS:C1334373|NCIT:C9463		laryngeal mucoepidermoid carcinoma|laryngeal throat mucoepidermoid cancer|mucoepidermoid carcinoma of larynx|mucoepidermoid carcinoma of the larynx|larynx mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0003095	A rare mucoepidermoid carcinoma of the larynx. It usually arises from the supraglottic area. Hoarseness and dysphagia are the presenting symptoms.	UMLS:C1334373|NCIT:C9463|DOID:4688
MONDO:0003096	deep hemangioma	biolink:Disease	mondo	NCIT:C6555|DOID:469|UMLS:C1333265		deep angioma|deep hemangioma	http://purl.obolibrary.org/obo/MONDO_0003096	A hemangioma arising from the deep soft tissues.	UMLS:C1333265|DOID:469|NCIT:C6555
MONDO:0003097	childhood mediastinal neurogenic neoplasm	biolink:Disease	mondo	DOID:4690|NCIT:C5429|UMLS:C1332981		childhood mediastinal neurogenic neoplasm|childhood neurogenic tumor of the mediastinum|pediatric neurogenic neoplasm of the mediastinum|childhood neurogenic tumor of mediastinum|pediatric neurogenic neoplasm of mediastinum|childhood mediastinal neurogenic tumor|pediatric neurogenic tumor of mediastinum|pediatric mediastinal neurogenic neoplasm|pediatric neurogenic tumor of the mediastinum|pediatric mediastinal neurogenic tumor|childhood neurogenic neoplasm of the mediastinum|childhood neurogenic neoplasm of mediastinum	http://purl.obolibrary.org/obo/MONDO_0003097		NCIT:C5429|UMLS:C1332981|DOID:4690
MONDO:0003090	extrahepatic bile duct carcinoma	biolink:Disease	mondo	UMLS:C0238019|SCTID:372101000|DOID:4682|NCIT:C3860		carcinoma of extrahepatic bile duct|carcinoma of the extrahepatic bile duct|extrahepatic bile duct carcinoma|extrahepatic bile duct cancer	http://purl.obolibrary.org/obo/MONDO_0003090	A carcinoma that arises from epithelial cells of the extrahepatic bile duct.	UMLS:C0238019|SNOMEDCT:372101000|NCIT:C3860|DOID:4682
MONDO:0003091	cutaneous mucoepidermoid carcinoma	biolink:Disease	mondo	UMLS:C0346019|NCIT:C4472|DOID:4683|SCTID:254713002		zone of skin mucoepidermoid carcinoma|mucoepidermoid skin carcinoma	http://purl.obolibrary.org/obo/MONDO_0003091	A mucoepidermoid carcinoma that involves the zone of skin.	UMLS:C0346019|NCIT:C4472|SNOMEDCT:254713002|DOID:4683
MONDO:0003092	lacrimal gland mucoepidermoid carcinoma	biolink:Disease	mondo	UMLS:C1334359|DOID:4685|NCIT:C6091		mucoepidermoid carcinoma of lacrimal gland|mucoepidermoid carcinoma of the lacrimal gland|lacrimal gland mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0003092	An extremely rare carcinoma that arises from the lacrimal gland. It is characterized by the presence of infiltrating nests of epidermoid cells and mucus producing cells.	UMLS:C1334359|DOID:4685|NCIT:C6091
MONDO:0003093	mucoepidermoid esophageal carcinoma	biolink:Disease	mondo	NCIT:C5343|UMLS:C1333461|DOID:4686		mucoepidermoid carcinoma of the esophagus|esophagus mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0003093	A rare carcinoma of the esophagus which contains squamous cells, mucus secreting cells, and cells of an intermediate type. (WHO)	UMLS:C1333461|DOID:4686|NCIT:C5343
NCBITaxon:117571	Euteleostomi	organism taxon	mondo	GC_ID:1		bony vertebrates	http://purl.obolibrary.org/obo/NCBITaxon_117571		
NCBITaxon:117570	Teleostomi	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_117570		
MONDO:0015065	ileal neuroendocrine tumor, well differentiated, low or intermediate grade	biolink:Disease	mondo	Orphanet:100078|NCIT:C135092|UMLS:CN197358	ordo_disease	ileal neuroendocrine neoplasm|ileal neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0015065	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the ileum.	UMLS:CN197358|ORPHA:100078|NCIT:C135092
MONDO:0015064	jejunal neuroendocrine tumor, well differentiated, low or intermediate grade	biolink:Disease	mondo	Orphanet:100077|NCIT:C135090|UMLS:CN197357	ordo_disease	jejunal neuroendocrine tumor|jejunal neuroendocrine neoplasm	http://purl.obolibrary.org/obo/MONDO_0015064	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the jejunum.	UMLS:CN197357|ORPHA:100077|NCIT:C135090
MONDO:0015063	duodenal neuroendocrine tumor, well differentiated, low or intermediate grade	biolink:Disease	mondo	Orphanet:100076|NCIT:C135080|UMLS:CN197356	ordo_group_of_disorders	duodenal neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0015063	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the duodenum.	UMLS:CN197356|ORPHA:100076|NCIT:C135080
MONDO:0015062	gastric neuroendocrine tumor, well differentiated, low or intermediate grade	biolink:Disease	mondo	NCIT:C95871|ONCOTREE:SWDNET|UMLS:CN197355|UMLS:C3272399	ordo_disease	well-differentiated neuroendocrine tumors of the stomach|gastric well differentiated endocrine tumor/carcinoma|gastric well differentiated endocrine tumor|gastric neuroendocrine tumor|gastric NET|GNET|gastric NET G1/2	http://purl.obolibrary.org/obo/MONDO_0015062	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the stomach.	UMLS:CN197355|NCIT:C95871|UMLS:C3272399
MONDO:0015069	neuroendocrine tumor of the anal canal	biolink:Disease	mondo	Orphanet:100082|NCIT:C96540|UMLS:CN197362	ordo_disease	NET of anal canal|neuroendocrine tumor of anal canal|NET of the anal canal|anal canal well differentiated tumor|anal canal well differentiated tumor/carcinoma|anal NET|anal canal neuroendocrine neoplasm|anal canal NET|neuroendocrine neoplasm of the anal canal|anal canal neuroendocrine tumor|anal Neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0015069	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the anal canal.	UMLS:CN197362|ORPHA:100082|NCIT:C96540
MONDO:0015068	neuroendocrine tumor of rectum, well differentiated, low or intermediate grade	biolink:Disease	mondo	NCIT:C135213|UMLS:CN197361	ordo_disease	rectal neuroendocrine tumor|neuroendocrine tumor of the rectum	http://purl.obolibrary.org/obo/MONDO_0015068	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the rectum.	UMLS:CN197361|NCIT:C135213
MONDO:0015067	neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor	biolink:Disease	mondo	NCIT:C135212	ordo_disease	colonic NET|colon neuroendocrine tumor|neuroendocrine neoplasm of the colon|NET of the colon|carcinoid tumor of colon	http://purl.obolibrary.org/obo/MONDO_0015067	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the colon.	NCIT:C135212
MONDO:0015066	neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade	biolink:Disease	mondo	ONCOTREE:AWDNET|NCIT:C96422|SCTID:725167001|ICD10:C18.1|ICD10:D37.3|Orphanet:100079	ordo_disease	appendix well differentiated endocrine tumor|appendix well differentiated endocrine tumor/carcinoma|appendix neuroendocrine tumor|appendix NET|NEN of appendix|appendiceal neuroendocrine tumor|appendiceal NEN|neuroendocrine neoplasm of appendix|appendiceal neuroendocrine neoplasm|well-differentiated neuroendocrine tumor of the appendix	http://purl.obolibrary.org/obo/MONDO_0015066	A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the appendix.	ORPHA:100079|NCIT:C96422|SNOMEDCT:725167001
GO:0009581	detection of external stimulus	biolink:OntologyClass	mondo			perception of external stimulus	http://purl.obolibrary.org/obo/GO_0009581	The series of events in which an external stimulus is received by a cell and converted into a molecular signal.	
GO:0009582	detection of abiotic stimulus	biolink:OntologyClass	mondo			perception of abiotic stimulus	http://purl.obolibrary.org/obo/GO_0009582	The series of events in which an (non-living) abiotic stimulus is received by a cell and converted into a molecular signal.	
GO:0010561	negative regulation of glycoprotein biosynthetic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010561	Any process that decreases the rate, frequency, or extent of the chemical reactions and pathways resulting in the formation of glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide.	
GO:0010562	positive regulation of phosphorus metabolic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010562	Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus.	
GO:0010560	positive regulation of glycoprotein biosynthetic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010560	Any process that increases the rate, frequency, or extent of the chemical reactions and pathways resulting in the formation of glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide.	
GO:0010565	regulation of cellular ketone metabolic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010565	Any process that modulates the chemical reactions and pathways involving any of a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups.	
GO:0010566	regulation of ketone biosynthetic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010566	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of a ketone, carried out by individual cells.	
GO:0010563	negative regulation of phosphorus metabolic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010563	Any process that decreases the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus.	
GO:0010564	regulation of cell cycle process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010564	Any process that modulates a cellular process that is involved in the progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events.	
MONDO:0054666	ovarian dysgenesis 5	biolink:Disease	mondo	OMIM:617690|DOID:0080497|UMLS:C4540141		ODG5|ovarian dysgenesis 5; ODG5	http://purl.obolibrary.org/obo/MONDO_0054666		DOID:0080497|http://identifiers.org/omim/617690|UMLS:C4540141
MONDO:0054665	pituitary adenoma 3, multiple types	biolink:Disease	mondo	UMLS:C4540135|OMIM:617686		PITA3|pituitary adenoma 3, multiple types; PITA3	http://purl.obolibrary.org/obo/MONDO_0054665		http://identifiers.org/omim/617686|UMLS:C4540135
ECTO:0000439	formaldehyde exposure	biolink:OntologyClass	mondo			exposure to formaldehyde	http://purl.obolibrary.org/obo/ECTO_0000439	An exposure to formaldehyde.	
HGNC:30788	TLE6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30788		
CHEBI:35190	diterpene	biolink:ChemicalSubstance	mondo			diterpeno|diterpenos|diterpenes|Diterpen|diterpenes	http://purl.obolibrary.org/obo/CHEBI_35190	A C20 terpene.	
NCBITaxon:10508	Adenoviridae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_10508		
GO:0009583	detection of light stimulus	biolink:OntologyClass	mondo			detection of light|perception of light	http://purl.obolibrary.org/obo/GO_0009583	The series of events in which a light stimulus (in the form of photons) is received and converted into a molecular signal.	
CHEBI:62732	aromatic ester	biolink:ChemicalSubstance	mondo			aromatic esters	http://purl.obolibrary.org/obo/CHEBI_62732	An ester where the ester linkage is bonded directly to an aromatic system.	
GO:0009584	detection of visible light	biolink:OntologyClass	mondo			perception of visible light	http://purl.obolibrary.org/obo/GO_0009584	The series of events in which a visible light stimulus is received by a cell and converted into a molecular signal. A visible light stimulus is electromagnetic radiation that can be perceived visually by an organism; for organisms lacking a visual system, this can be defined as light with a wavelength within the range 380 to 780 nm.	
CHEBI:35186	terpene	biolink:ChemicalSubstance	mondo			Terpen|terpeno|terpenes|terpene|terpenos|terpenes	http://purl.obolibrary.org/obo/CHEBI_35186	A hydrocarbon of biological origin having carbon skeleton formally derived from isoprene [CH2=C(CH3)CH=CH2].	
MONDO:0054654	combined oxidative phosphorylation deficiency 32	biolink:Disease	mondo	OMIM:617664|DOID:0111492|UMLS:C4540029		COXPD32|combined oxidative phosphorylation deficiency 32; COXPD32	http://purl.obolibrary.org/obo/MONDO_0054654		DOID:0111492|UMLS:C4540029|http://identifiers.org/omim/617664
HGNC:30794	CEP57	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30794		
HGNC:30791	UBIAD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30791		
HGNC:30778	GATAD2B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30778		
MONDO:0027091	xanthogranulomatous sialadenitis	biolink:Disease	mondo	GARD:0009739	gard_rare	xanthogranulomatous salivary gland disease|sialadenitis, xanthogranulomatous	http://purl.obolibrary.org/obo/MONDO_0027091		
MONDO:0054680	epiphyseal dysplasia, multiple, 7	biolink:Disease	mondo	DOID:0070302|OMIM:617719		multiple epiphyseal dysplasia 7|epiphyseal dysplasia, multiple, 7; EDM7|EDM7	http://purl.obolibrary.org/obo/MONDO_0054680		http://identifiers.org/omim/617719|DOID:0070302
MONDO:0054669	pontocerebellar hypoplasia, type 11	biolink:Disease	mondo	OMIM:617695		PCH11|pontocerebellar hypoplasia, type 11; PCH11	http://purl.obolibrary.org/obo/MONDO_0054669		http://identifiers.org/omim/617695
GO:0010558	negative regulation of macromolecule biosynthetic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010558	Any process that decreases the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass.	
GO:0010559	regulation of glycoprotein biosynthetic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010559	Any process that modulates the rate, frequency, or extent of the chemical reactions and pathways resulting in the formation of glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide.	
GO:0010556	regulation of macromolecule biosynthetic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010556	Any process that modulates the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass.	
GO:0010557	positive regulation of macromolecule biosynthetic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010557	Any process that increases the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass.	
HGNC:29796	LAMTOR2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29796		
GO:0009566	fertilization	biolink:OntologyClass	mondo			syngamy	http://purl.obolibrary.org/obo/GO_0009566	The union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy).	
MONDO:0054677	combined oxidative phosphorylation deficiency 33	biolink:Disease	mondo	DOID:0111495|OMIM:617713|EFO:0009159|UMLS:C4540209		combined oxidative phosphorylation deficiency 33; COXPD33|COXPD33	http://purl.obolibrary.org/obo/MONDO_0054677		DOID:0111495|http://identifiers.org/omim/617713|UMLS:C4540209
MONDO:0054736	mosaic variegated aneuploidy syndrome 3	biolink:Disease	mondo	OMIM:617598		MVA3|MOSAIC variegated aneuploidy syndrome 3; MVA3	http://purl.obolibrary.org/obo/MONDO_0054736		http://identifiers.org/omim/617598
HGNC:9180	POLG2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9180		
HGNC:9181	POLH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9181		
GO:0071482	cellular response to light stimulus	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0071482	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a light stimulus, electromagnetic radiation of wavelengths classified as infrared, visible or ultraviolet light.	
MONDO:0054733	spermatogenic failure 29	biolink:Disease	mondo	OMIM:618091		spermatogenic failure 29; SPGF29|SPGF29	http://purl.obolibrary.org/obo/MONDO_0054733		http://identifiers.org/omim/618091
MONDO:0003146	obsolete ependymoblastoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003146		
MONDO:0003147	space motion sickness	biolink:Disease	mondo	MESH:D018489|EFO:1001188|DOID:4796|UMLS:C0242700		Space adaptation syndrome|adaptation syndrome, Space|motion sickness, Space|syndrome, Space adaptation	http://purl.obolibrary.org/obo/MONDO_0003147	Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary)	UMLS:C0242700|DOID:4796|MESH:D018489
MONDO:0054739	Fraser syndrome 3	biolink:Disease	mondo	DOID:0111406|UMLS:C4540040|OMIM:617667		Fraser syndrome 3; FRASRS3|FRASRS3	http://purl.obolibrary.org/obo/MONDO_0054739		DOID:0111406|UMLS:C4540040|http://identifiers.org/omim/617667
MONDO:0003148	obsolete SM-AHNMD	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003148		
MONDO:0054738	Fraser syndrome 2	biolink:Disease	mondo	DOID:0111407|OMIM:617666|UMLS:C4540036		Fraser syndrome 2; FRASRS2|FRASRS2	http://purl.obolibrary.org/obo/MONDO_0054738		DOID:0111407|UMLS:C4540036|http://identifiers.org/omim/617666
MONDO:0003149	obsolete aggressive systemic mastocytosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003149		
MONDO:0054737	Fraser syndrome 1	biolink:Disease	mondo	DOID:0111405|OMIM:219000		cryptophthalmos-syndactyly syndrome|cryptophthalmos with Other malformations|FRASRS1|Fraser syndrome|Fraser syndrome 1; FRASRS1	http://purl.obolibrary.org/obo/MONDO_0054737		DOID:0111405|http://identifiers.org/omim/219000
MONDO:0003142	intracranial primitive neuroectodermal tumor	biolink:Disease	mondo	NCIT:C5817|DOID:4788|UMLS:C1334246		brain primitive neuroectodermal tumor|intracranial embryonal tumor, NOS|intracranial PNET|primitive neuroectodermal tumor of brain|intracranial embryonal tumor, not otherwise specified|intracranial primitive neuroectodermal tumor|intracranial primitive neuroectodermal neoplasm	http://purl.obolibrary.org/obo/MONDO_0003142	A primitive neuroectodermal tumor that involves the brain.	UMLS:C1334246|DOID:4788|NCIT:C5817
MONDO:0003143	angiokeratoma	biolink:Disease	mondo	UMLS:C0346075|NCIT:C4488|MESH:D000794|CSP:2007-0683|SCTID:254788004|DOID:479|UMLS:C0002985		angiokeratoma of skin|angiokeratoma of the skin|skin angiokeratoma|cutaneous angiokeratoma|angiokeratoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003143	A vascular lesion in the papillary dermis resulting from ectasia of pre-existing vessels. It is associated with secondary proliferative changes in the overlying epidermis (hyperkeratosis). It can present with widespread lesions (angiokeratoma corporis diffusum, often associated with inborn errors of metabolism) or as a localized lesion (angiokeratoma of Fordyce, angiokeratoma circumscriptum, and angiokeratoma of Mibelli).	SNOMEDCT:254788004|UMLS:C0346075|UMLS:C0002985|DOID:479|MESH:D000794|NCIT:C4488
MONDO:0003144	medulloepithelioma	biolink:Disease	mondo	NCIT:C4327|Orphanet:251883|SCTID:715903004|ONCOTREE:MDEP|UMLS:C0334596|DOID:4790	ordo_disease	medulloepithelioma NOS (morphologic abnormality)|Diktyoma, malignant|medulloepithelioma, central nervous system|medulloepithelioma of the central nervous system|central nervous system medulloepithelioma|MDEP	http://purl.obolibrary.org/obo/MONDO_0003144	A rare, usually aggressive malignant embryonal neoplasm of the central nervous system occurring in children. It is characterized by the presence of neuroepithelial cells which form papillary, trabecular, or tubular structures and absence of C19MC amplification. Symptoms include headache, nausea, and vomiting.	ORPHA:251883|UMLS:C0334596|DOID:4790|NCIT:C4327|SNOMEDCT:715903004
MONDO:0003145	supratentorial primitive neuroectodermal tumor	biolink:Disease	mondo	GARD:0007366|NCIT:C6968|ICD9:209.30|SCTID:699318007|UMLS:C1336538|DOID:4791		supratent. primitive neuro. tumor|supratentorial embryonal tumor, not otherwise specified|supratentorial primitive neuroectodermal tumor|supratentorial embryonal tumor, NOS|CNS/supratentorial PNET|supratentorial PNET	http://purl.obolibrary.org/obo/MONDO_0003145	A central nervous system embryonal tumor, not otherwise specified arising from the supratentorial region.	SNOMEDCT:699318007|DOID:4791|UMLS:C1336538|NCIT:C6968
HGNC:29882	ISCU	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29882		
MONDO:0003140	immune-complex glomerulonephritis	biolink:Disease	mondo	ICD9:583.89|UMLS:C0744421|SCTID:123752003|DOID:4784|NCIT:C35800		immune Complex glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0003140	Inflammation of the glomeruli characterized by the accumulation of antibody-antigen immune complexes, resulting in glomerular damage and impaired kidney function.	SNOMEDCT:123752003|NCIT:C35800|DOID:4784|UMLS:C0744421
MONDO:0003141	cerebellopontine angle embryonal tumor	biolink:Disease	mondo	UMLS:C1332904|DOID:4787|NCIT:C5436		primitive neuroectodermal tumor of C-P angle|cerebellopontine angle primitive neuroectodermal neoplasm|cerebellar Pontine angle primitive neuroectodermal neoplasm|primitive neuroectodermal neoplasm of the C-P angle|C-P angle primitive neuroectodermal neoplasm|cerebellopontine angle embryonal tumor, NOS|primitive neuroectodermal neoplasm of C-P angle|C-P angle primitive neuroectodermal tumor|cerebellopontine angle primitive neuroectodermal|cerebellopontine angle primitive neuroectodermal tumor|cerebellar Pontine angle primitive neuroectodermal tumor|cerebellar Pontine angle PNET|cerebellopontine angle PNET|primitive neuroectodermal neoplasm of cerebellopontine angle|primitive neuroectodermal neoplasm of cerebellar Pontine angle|primitive neuroectodermal neoplasm of the cerebellopontine angle|primitive neuroectodermal neoplasm of the cerebellar Pontine angle|C-P angle PNET|primitive neuroectodermal tumor of cerebellar Pontine angle|primitive neuroectodermal tumor of cerebellopontine angle|primitive neuroectodermal tumor of the cerebellar Pontine angle|primitive neuroectodermal tumor of the cerebellopontine angle|primitive neuroectodermal tumor of the C-P angle|cerebellopontine angle embryonal tumor, not otherwise specified	http://purl.obolibrary.org/obo/MONDO_0003141	A central nervous system embryonal tumor, not otherwise specified arising from the cerebellopontine angle of the infratentorial brain.	UMLS:C1332904|DOID:4787|NCIT:C5436
MONDO:0015139	obsolete rare epilepsy	biolink:Disease	mondo	Orphanet:101998|UMLS:CN244924	obsoletion_candidate|ordo_group_of_disorders	rare epilepsy	http://purl.obolibrary.org/obo/MONDO_0015139	Rare epilepsy.	ORPHA:101998|UMLS:CN244924
MONDO:0015138	obsolete rare genetic primary immunodeficiency	biolink:Disease	mondo	Orphanet:101997|SCTID:58606001|UMLS:C0398686	obsoletion_candidate|ordo_group_of_disorders	primary immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0015138		SNOMEDCT:58606001|ORPHA:101997|UMLS:C0398686
MONDO:0015137	periodic fever syndrome	biolink:Disease	mondo	UMLS:C3889979|ICD10:E85.0|MedDRA:10034533|Orphanet:101995|NCIT:C118240|UMLS:C0015974	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015137	Fevers of unknown etiology recurring over months or years.	ORPHA:101995|NCIT:C118240|UMLS:C3889979|UMLS:C0015974|MEDDRA:10034533
MONDO:0015136	immunodeficiency due to a genetic complement cascade protein anomaly	biolink:Disease	mondo	Orphanet:101992|ICD10:D84.1	ordo_group_of_disorders	immunodeficiency due to a complement cascade protein anomaly	http://purl.obolibrary.org/obo/MONDO_0015136		ORPHA:101992
MONDO:0017798	Spigelian hernia-cryptorchidism syndrome	biolink:Disease	mondo	UMLS:CN203757|ICD10:K43.6|Orphanet:314432	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0017798		UMLS:CN203757|ORPHA:314432
MONDO:0017799	Meigs syndrome	biolink:Disease	mondo	Orphanet:314451|ICD9:629.89|UMLS:C0025184|MedDRA:10027139|MESH:D008539|NCIT:C3223|SCTID:63402005|ICD10:D27	ordo_clinical_syndrome	Meigs' syndrome|Demons-Meigs syndrome	http://purl.obolibrary.org/obo/MONDO_0017799	A rare syndrome affecting females. It is characterized by pleural effusion, ascites and non-malignant ovarian neoplasm. This syndrome usually follows a benign course. Prognosis is favorable following surgical resection of the ovarian mass.	NCIT:C3223|UMLS:C0025184|MESH:D008539|SNOMEDCT:63402005|ORPHA:314451|MEDDRA:10027139
MONDO:0017794	Xq12-q13.3 duplication syndrome	biolink:Disease	mondo	SCTID:764711007|ICD10:Q99.8|Orphanet:314389|UMLS:CN203749	ordo_malformation_syndrome	dup(X)(q12-q13.3)	http://purl.obolibrary.org/obo/MONDO_0017794	Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients.	UMLS:CN203749|ORPHA:314389|SNOMEDCT:764711007
MONDO:0015131	congenital combined immunodeficiency	biolink:Disease	mondo	ICD10:D81|ICD10:D81.8|ICD10:D81.7|ICD10:D81.6|DOID:628|ICD10:D81.5|ICD10:D81.4|ICD10:D81.3|ICD10:D81.2|ICD10:D81.1|ICD10:D81.0|UMLS:C0494261|ICD10:D81.9|NCIT:C27871|ICD9:279.2|Orphanet:101972	ordo_group_of_disorders	congenital combined immunodeficiency|combined T and B cell immunodeficiency|combined immunodeficiency|combined T cell and B cell immunodeficiency|X-linked combined immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0015131	A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern.	ORPHA:101972|UMLS:C0494261|DOID:628|NCIT:C27871
NCBITaxon:34503	Paragonimus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_34503		
MONDO:0017795	ameloblastoma	biolink:Disease	mondo	MESH:D000564|NCIT:C4313|Orphanet:314419|UMLS:C0563212|GARD:0005747|UMLS:C0002448|ICD10:C41.1|DOID:0050894|SCTID:285311001|ICDO:9310/0|MedDRA:10066796	gard_rare|ordo_disease	ameloblastoma|adenomatoid odontogenic tumor|aot|adamantinoma|Adenoameloblastoma|ameloblastoma of jaw	http://purl.obolibrary.org/obo/MONDO_0017795	The most common odontogenic tumor, arising from the epithelial component of the embryonic tooth and usually affecting the molar-ramus region of the mandible or maxilla. Although most ameloblastomas are morphologically and clinically benign, they may cause extensive local destruction, recur, or metastasize.	SNOMEDCT:285311001|UMLS:C0002448|MEDDRA:10066796|MESH:D000564|DOID:0050894|ORPHA:314419|UMLS:C0563212|NCIT:C4313
MONDO:0015130	acquired chronic primary adrenal insufficiency	biolink:Disease	mondo	Orphanet:101963	ordo_group_of_disorders	acquired chronic primary adrenal insufficiency	http://purl.obolibrary.org/obo/MONDO_0015130	An instance of chronic primary adrenal insufficiency that is acquired during the lifetime of the individual.	ORPHA:101963
NCBITaxon:34504	Paragonimus westermani	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_34504		
HGNC:30883	TMEM126B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30883		
MONDO:0017796	obsolete ameloblastic carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0017796		
NCBITaxon:34502	Troglotrematidae	organism taxon	mondo	GC_ID:1		Paragonimidae	http://purl.obolibrary.org/obo/NCBITaxon_34502		
MONDO:0017797	obsolete rare odontologic tumor	biolink:Disease	mondo	Orphanet:314425|UMLS:CN203756	obsoletion_candidate|ordo_group_of_disorders	rare odontogenic tumor|rare odontogenic neoplasm	http://purl.obolibrary.org/obo/MONDO_0017797	Any of the forms of odontogenic neoplasm that have a rare incidence.	UMLS:CN203756|ORPHA:314425
MONDO:0054743	polycystic liver disease 3 with or without kidney cysts	biolink:Disease	mondo	OMIM:617874|UMLS:CN818986		polycystic liver disease 3 with or without kidney cysts; PCLD3|PCLD3	http://purl.obolibrary.org/obo/MONDO_0054743	Any polycystic kidney disease in which the cause of the disease is a mutation in the ALG8 gene, that presents with or without kidney cysts.	http://identifiers.org/omim/617874|UMLS:CN818986
MONDO:0017790	gastric adenocarcinoma and proximal polyposis of the stomach	biolink:Disease	mondo	UMLS:CN203740|Orphanet:314022	ordo_disease	familial fundic gland polyposis with gastric cancer|GAPPS	http://purl.obolibrary.org/obo/MONDO_0017790	Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is a rare hereditary gastric cancer characterized by proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, with no duodenal or colorectal polyposis.	ORPHA:314022|UMLS:CN203740
MONDO:0015135	primary immunodeficiency due to a genetic defect in innate immunity	biolink:Disease	mondo	Orphanet:101988	ordo_group_of_disorders	primary immunodeficiency due to a defect in innate immunity	http://purl.obolibrary.org/obo/MONDO_0015135		ORPHA:101988
HGNC:30881	ALG13	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30881		
MONDO:0054742	combined oxidative phosphorylation deficiency 35	biolink:Disease	mondo	UMLS:CN807948|OMIM:617873|DOID:0111464		combined oxidative phosphorylation deficiency 35; COXPD35|COXPD35	http://purl.obolibrary.org/obo/MONDO_0054742		DOID:0111464|http://identifiers.org/omim/617873|UMLS:CN807948
MONDO:0015134	constitutional neutropenia	biolink:Disease	mondo	NCIT:C61242|Orphanet:101987|COHD:434895|ICD10:D70	ordo_group_of_disorders	Kostmann syndrome|Kostmann neutropenia|Kostmann disease|genetic infantile agranulocytosis|infantile genetic agranulocytosis|congenital neutropenia	http://purl.obolibrary.org/obo/MONDO_0015134	A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood.	ORPHA:101987|NCIT:C61242
MONDO:0017791	high bone mass osteogenesis imperfecta	biolink:Disease	mondo	UMLS:CN203741|Orphanet:314029|ICD10:Q78.0	ordo_disease	high bone mass OI	http://purl.obolibrary.org/obo/MONDO_0017791		ORPHA:314029|UMLS:CN203741
MONDO:0015133	quantitative and/or qualitative congenital phagocyte defect	biolink:Disease	mondo	Orphanet:101985	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015133		ORPHA:101985
MONDO:0054741	combined oxidative phosphorylation deficiency 34	biolink:Disease	mondo	OMIM:617872|DOID:0111497		COXPD34|combined oxidative phosphorylation deficiency 34; COXPD34	http://purl.obolibrary.org/obo/MONDO_0054741		DOID:0111497|http://identifiers.org/omim/617872
MONDO:0017792	7p22.1 microduplication syndrome	biolink:Disease	mondo	UMLS:CN203742|SCTID:764703002|Orphanet:314034|ICD10:Q92.3	ordo_malformation_syndrome	trisomy 7p22.1|dup(7)(p22.1)	http://purl.obolibrary.org/obo/MONDO_0017792	7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated.	SNOMEDCT:764703002|ORPHA:314034|UMLS:CN203742
MONDO:0054740	blepharocheilodontic syndrome 1	biolink:Disease	mondo	OMIM:119580|DOID:0080345		BCD syndrome|Lagophthalmia with bilateral cleft 51P and palate|blepharocheilodontic syndrome 1; BCDS1|CDH1 blepharo-cheilo-odontic syndrome|blepharo-cheilo-odontic syndrome caused by mutation in CDH1|elschnig syndrome|clefting, ectropion, and conical teeth|ectropion, Inferior, with cleft 51P and/Or palate|BCDS1|blepharocheilodontic syndrome	http://purl.obolibrary.org/obo/MONDO_0054740	Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CDH1 gene.	http://identifiers.org/omim/119580|DOID:0080345
MONDO:0015132	immunodeficiency predominantly affecting antibody production	biolink:Disease	mondo	ICD10:D80.1|ICD10:D80.0|Orphanet:101977|ICD10:D80.7|ICD10:D80.9|ICD10:D80.8|ICD10:D80.6|ICD10:D80.5|ICD10:D80.4|ICD10:D80.3|ICD10:D80.2	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015132		ORPHA:101977
MONDO:0017793	marfanoid habitus-inguinal hernia-advanced bone age syndrome	biolink:Disease	mondo	Orphanet:314041|UMLS:CN203743	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0017793		UMLS:CN203743|ORPHA:314041
MONDO:0054725	spermatogenic failure 21	biolink:Disease	mondo	OMIM:617644|DOID:0070163|UMLS:C4539991		SPGF21|spermatogenic failure 21; SPGF21	http://purl.obolibrary.org/obo/MONDO_0054725		UMLS:C4539991|http://identifiers.org/omim/617644|DOID:0070163
MONDO:0054724	spermatogenic failure 20	biolink:Disease	mondo	DOID:0070166|OMIM:617593		spermatogenic failure 20; SPGF20|SPGF20	http://purl.obolibrary.org/obo/MONDO_0054724		http://identifiers.org/omim/617593|DOID:0070166
MONDO:0054723	spermatogenic failure 19	biolink:Disease	mondo	OMIM:617592|DOID:0070170		SPGF19|spermatogenic failure 19; SPGF19	http://purl.obolibrary.org/obo/MONDO_0054723		http://identifiers.org/omim/617592|DOID:0070170
MONDO:0054722	geleophysic dysplasia 3	biolink:Disease	mondo	DOID:0111727|OMIM:617809		GPHYSD3|GELEOPHYSIC dysplasia 3; GPHYSD3	http://purl.obolibrary.org/obo/MONDO_0054722		DOID:0111727|http://identifiers.org/omim/617809
MONDO:0003157	Gorham disease	biolink:Disease	mondo	ICD9:733.09|DOID:4837|SCTID:240161003|UMLS:C0029436		disappearing bone disease|Gorham's disease|Gorham disease|essential osteolysis|phantom bone disease|Gorham-Stout syndrome|massive osteolysis	http://purl.obolibrary.org/obo/MONDO_0003157	Syndromes of bone destruction where the cause is not obvious such as neoplasia, infection, or trauma. The destruction follows various patterns: massive (Gorham disease), multicentric (hajdu-cheney syndrome), or carpal/tarsal.	SNOMEDCT:240161003|DOID:4837|UMLS:C0029436
MONDO:0054729	spermatogenic failure 25	biolink:Disease	mondo	OMIM:617960		SPGF25|spermatogenic failure 25; SPGF25	http://purl.obolibrary.org/obo/MONDO_0054729		http://identifiers.org/omim/617960
MONDO:0003158	malignant myoepithelioma	biolink:Disease	mondo	DOID:4838|ONCOTREE:STMYEC|GARD:0010558|ICDO:8982/3|NCIT:C7596|UMLS:C0334699	gard_rare	malignant myoepithelioma|myoepithelioma carcinoma|myoepithelial carcinoma|soft tissue myoepithelial carcinoma|myoepithelioma, malignant	http://purl.obolibrary.org/obo/MONDO_0003158	An infiltrating malignant tumor characterized by the presence of atypical cells with myoepithelial differentiation. Representative examples include malignant breast myoepithelioma and salivary gland myoepithelial carcinoma.	UMLS:C0334699|DOID:4838|NCIT:C7596
MONDO:0054728	spermatogenic failure 24	biolink:Disease	mondo	OMIM:617959|UMLS:CN244570		spermatogenic failure 24; SPGF24|SPGF24	http://purl.obolibrary.org/obo/MONDO_0054728		UMLS:CN244570|http://identifiers.org/omim/617959
MONDO:0003159	vascular hemostatic disease	biolink:Disease	mondo	DOID:484|SCTID:21112004|UMLS:C0600502|MESH:D020141		vascular hemostatic disorders|hemostatic disorder, vascular|hemostatic disorders, vascular|disorder, vascular hemostatic|vascular hemostatic disorder|disorders, vascular hemostatic|hemostatic disorder	http://purl.obolibrary.org/obo/MONDO_0003159	Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of blood vessels, blood fluidity, and blood coagulation. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the vascular endothelium, the plasma proteins (including blood coagulation factors), and platelets.	MESH:D020141|DOID:484|SNOMEDCT:21112004|UMLS:C0600502
MONDO:0054727	spermatogenic failure 23	biolink:Disease	mondo	OMIM:617707|UMLS:C4540185|DOID:0070181		SPGF23|spermatogenic failure 23; SPGF23	http://purl.obolibrary.org/obo/MONDO_0054727		http://identifiers.org/omim/617707|UMLS:C4540185|DOID:0070181
MONDO:0054726	spermatogenic failure 22	biolink:Disease	mondo	OMIM:617706|DOID:0070177		SPGF22|spermatogenic failure 22; SPGF22	http://purl.obolibrary.org/obo/MONDO_0054726		http://identifiers.org/omim/617706|DOID:0070177
MONDO:0003153	adult brainstem glioma	biolink:Disease	mondo	DOID:4813|NCIT:C9091|UMLS:C0278873		adult brain stem glioma|adult brainstem glioma|glioma of adult brain stem|brain stem glioma of adults|glioma of the adult brain stem|adult brainstem neuroglial tumor|brain stem glioma|adult brainstem neuroglial neoplasm	http://purl.obolibrary.org/obo/MONDO_0003153	A brain stem glioma that occurs in an adult.	NCIT:C9091|UMLS:C0278873|DOID:4813
MONDO:0003154	hemangioma of peripheral nerve	biolink:Disease	mondo	NCIT:C27507|DOID:482|UMLS:C1333956		nerve hemangioma|hemangioma of nerve|hemangioma of peripheral nerve	http://purl.obolibrary.org/obo/MONDO_0003154	A hemangioma arising from the peripheral nerves.	UMLS:C1333956|DOID:482|NCIT:C27507
HGNC:27232	C8orf37	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/27232		
MONDO:0003155	cavernous hemangioma	biolink:Disease	mondo	DOID:483|ICD10:D18.0|MESH:D006392|SCTID:416824008|EFO:1000151|HP:0001048|ICDO:9121/0|NCIT:C3086|UMLS:C0018920		cavernous angioma|cavernous hemangioma|cavernous haemangioma|cavernoma|cavernous hemangioma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003155	A hemangioma characterized by the presence of cavernous vascular spaces.	SNOMEDCT:416824008|DOID:483|MESH:D006392|UMLS:C0018920|NCIT:C3086
HGNC:27230	ESCO2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/27230		
MONDO:0003156	obsolete adenosquamous carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003156		
MONDO:0003150	male reproductive system disease	biolink:Disease	mondo	NCIT:C27019|DOID:48|ICD10:N40.N51|ICD10:N50.9|ICD9:600-608.99|MESH:D005832|SCTID:363194005|ICD9:608.9		Male reproductive system disease|disease of male reproductive system|disease or disorder of male reproductive system|disorder of male reproductive system|disorder of Male reproductive system|male reproductive system disease|Male reproductive system disorder|male reproductive system disease or disorder|disorder of male reproductive system|male reproductive disease	http://purl.obolibrary.org/obo/MONDO_0003150	A disease involving the male reproductive system.	SNOMEDCT:363194005|NCIT:C27019|MESH:D005832|DOID:48
MONDO:0003151	obsolete movement disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003151		
MONDO:0003152	adult brainstem gliosarcoma	biolink:Disease	mondo	DOID:4812|NCIT:C9370|UMLS:C1377914		adult brain stem gliosarcoma|adult brainstem gliosarcoma	http://purl.obolibrary.org/obo/MONDO_0003152		NCIT:C9370|DOID:4812|UMLS:C1377914
MONDO:0015128	primary adrenal insufficiency	biolink:Disease	mondo	Orphanet:101958|MedDRA:10052381|UMLS:C3887896|NCIT:C113172	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015128	A hormonal disorder that occurs when the adrenal glands fail to release adequate amounts of glucocorticoids (cortisol), mineralocorticoids (aldosterone, 11-deoxycorticosterone), and androgens (dehydroepiandrosterone) to meet physiologic needs, despite release of ACTH from the pituitary.	ORPHA:101958|MEDDRA:10052381|UMLS:C3887896|NCIT:C113172
MONDO:0015127	pituitary deficiency	biolink:Disease	mondo	Orphanet:101957|ICD10:E23.0	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015127		ORPHA:101957
GO:1900372	negative regulation of purine nucleotide biosynthetic process	biolink:OntologyClass	mondo			inhibition of purine nucleotide biosynthesis|downregulation of purine nucleotide formation|down-regulation of purine nucleotide anabolism|inhibition of purine nucleotide synthesis|negative regulation of purine nucleotide anabolism|downregulation of purine nucleotide biosynthesis|inhibition of purine nucleotide formation|downregulation of purine nucleotide biosynthetic process|down regulation of purine nucleotide anabolism|down-regulation of purine nucleotide synthesis|negative regulation of purine nucleotide synthesis|downregulation of purine nucleotide anabolism|down-regulation of purine nucleotide formation|down regulation of purine nucleotide biosynthetic process|down regulation of purine nucleotide biosynthesis|negative regulation of purine nucleotide formation|down regulation of purine nucleotide synthesis|inhibition of purine nucleotide biosynthetic process|negative regulation of purine nucleotide biosynthesis|down regulation of purine nucleotide formation|down-regulation of purine nucleotide biosynthesis|down-regulation of purine nucleotide biosynthetic process|downregulation of purine nucleotide synthesis|inhibition of purine nucleotide anabolism	http://purl.obolibrary.org/obo/GO_1900372	Any process that stops, prevents or reduces the frequency, rate or extent of purine nucleotide biosynthetic processes.	
MONDO:0015126	polyendocrinopathy	biolink:Disease	mondo	ICD10:E31.9|ICD10:E31.8|Orphanet:101956|ICD10:E31.1|ICD10:E31.0	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015126		ORPHA:101956
MONDO:0015125	obsolete rare thyroid disease	biolink:Disease	mondo	Orphanet:101955	obsoletion_candidate|ordo_group_of_disorders	rare thyroid gland disease|rare thyroid disease	http://purl.obolibrary.org/obo/MONDO_0015125	Rare thyroid disease.	ORPHA:101955
GO:1900371	regulation of purine nucleotide biosynthetic process	biolink:OntologyClass	mondo			regulation of purine nucleotide biosynthesis|regulation of purine nucleotide anabolism|regulation of purine nucleotide synthesis|regulation of purine nucleotide formation	http://purl.obolibrary.org/obo/GO_1900371	Any process that modulates the frequency, rate or extent of purine nucleotide biosynthetic processes.	
MONDO:0017787	erythroderma desquamativum	biolink:Disease	mondo	UMLS:CN203737|GARD:0002191|ICD10:L21.1|MESH:C535512|Orphanet:314|HGNC:1331	ordo_disease|gard_rare	Leiner disease|erythroderma desquamativum of infancy|erythroderma desquamativa of Leiner|Leiner-Moussous desquamative erythroderma|generalized erythroderma, diarrhea, and failure to thrive	http://purl.obolibrary.org/obo/MONDO_0017787		UMLS:CN203737|ORPHA:314|MESH:C535512
MONDO:0017788	contractures - webbed neck - micrognathia - hypoplastic nipples syndrome	biolink:Disease	mondo	Orphanet:314002|UMLS:CN203738	ordo_malformation_syndrome	Dinno syndrome	http://purl.obolibrary.org/obo/MONDO_0017788		UMLS:CN203738|ORPHA:314002
MONDO:0017789	idiopathic linear interstitial keratitis	biolink:Disease	mondo	Orphanet:314017|ICD10:H16.3	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017789	Idiopathic linear interstitial keratitis is a rare, acquired ocular disease characterized by migratory or non-migratory, horizontal, linear, stromal infiltrates that may heal spontaneously. Minimal vascularization and scarring may be observed but vision loss is not associated.	ORPHA:314017
MONDO:0015129	chronic primary adrenal insufficiency	biolink:Disease	mondo	Orphanet:101959|NCIT:C26689	ordo_group_of_disorders	primary adrenal insufficiency, chronic|Addison's disease|Primary Hypoadrenalism|Addison's disease|Addison disease|CPAI|chronic adrenocorticoid insufficiency	http://purl.obolibrary.org/obo/MONDO_0015129	Chronic primary adrenal insufficiency (CPAI) is a chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones.	NCIT:C26689|ORPHA:101959
MONDO:0017783	congenital pancreatic cyst	biolink:Disease	mondo	ICD10:Q45.2|SCTID:204808002|Orphanet:313906	ordo_morphological_anomaly	neonatal congenital pancreatic cyst|true congenital pancreatic cyst	http://purl.obolibrary.org/obo/MONDO_0017783		SNOMEDCT:204808002|UMLS:C0341480|ORPHA:313906
MONDO:0015120	obsolete rare acquired eye disease	biolink:Disease	mondo	UMLS:CN197477|Orphanet:101949	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015120		ORPHA:101949|UMLS:CN197477
MONDO:0017784	Epstein-Barr virus-associated gastric carcinoma	biolink:Disease	mondo	UMLS:CN203734|ICD10:C16.2|SCTID:716586009|Orphanet:313920|ICD10:C16.0	ordo_disease	EBV-associated gastric carcinoma|EBVaGC	http://purl.obolibrary.org/obo/MONDO_0017784	Epstein-Barr virus (EBV)-associated gastric carcinoma (EBVaGC) is a rare form of gastric carcinoma (seen in approximately 10% of cases) with a male predominance, characterized by a latent EBV infection in gastric carcinoma cells, diffuse-type histology, a proximal location (in the body and cardia of the stomach) and a relatively favorable prognosis.	UMLS:CN203734|SNOMEDCT:716586009|ORPHA:313920
MONDO:0017785	PENS syndrome	biolink:Disease	mondo	UMLS:CN203735|Orphanet:313936	ordo_disease	papular epidermal nevi with skyline basal cell layers syndrome	http://purl.obolibrary.org/obo/MONDO_0017785	PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported.	UMLS:CN203735|ORPHA:313936
MONDO:0017786	2q23.1 microduplication syndrome	biolink:Disease	mondo	UMLS:CN203736|Orphanet:313947|SCTID:766816008|ICD10:Q92.3	ordo_malformation_syndrome	trisomy 2q23.1|dup(2)(q23.1)	http://purl.obolibrary.org/obo/MONDO_0017786	2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported.	UMLS:CN203736|ORPHA:313947|SNOMEDCT:766816008
GO:0071478	cellular response to radiation	biolink:OntologyClass	mondo			cellular response to electromagnetic radiation stimulus|cellular response to radiation stimulus	http://purl.obolibrary.org/obo/GO_0071478	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an electromagnetic radiation stimulus. Electromagnetic radiation is a propagating wave in space with electric and magnetic components. These components oscillate at right angles to each other and to the direction of propagation.	
MONDO:0054732	spermatogenic failure 28	biolink:Disease	mondo	OMIM:618086		SPGF28|spermatogenic failure 28; SPGF28	http://purl.obolibrary.org/obo/MONDO_0054732		http://identifiers.org/omim/618086
MONDO:0015124	obsolete rare adrenal disease	biolink:Disease	mondo	Orphanet:101954	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015124		ORPHA:101954
MONDO:0017780	20p13 microdeletion syndrome	biolink:Disease	mondo	UMLS:CN203720|ICD10:Q93.5|Orphanet:313781	ordo_malformation_syndrome	Del(20)(p13)|20p subtelomeric deletion syndrome|monosomy 20p13	http://purl.obolibrary.org/obo/MONDO_0017780	20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.	UMLS:CN203720|ORPHA:313781
MONDO:0015123	obsolete rare inherited dyslipidemia	biolink:Disease	mondo	Orphanet:101953	obsoletion_candidate|ordo_group_of_disorders	rare lipid metabolism disorder|rare dyslipidemia	http://purl.obolibrary.org/obo/MONDO_0015123	Rare lipid metabolism disorder.	ORPHA:101953
MONDO:0054731	spermatogenic failure 27	biolink:Disease	mondo	OMIM:617965		SPGF27|spermatogenic failure 27; SPGF27	http://purl.obolibrary.org/obo/MONDO_0054731		http://identifiers.org/omim/617965
MONDO:0017781	12p12.1 microdeletion syndrome	biolink:Disease	mondo	UMLS:CN203731|Orphanet:313884|ICD10:Q93.5	ordo_malformation_syndrome	Del(12)(p12.1)|monosomy 12p12.1	http://purl.obolibrary.org/obo/MONDO_0017781		UMLS:CN203731|ORPHA:313884
MONDO:0015122	obsolete rare diabetes mellitus	biolink:Disease	mondo	Orphanet:101952|UMLS:CN226600	obsoletion_candidate|ordo_group_of_disorders	rare diabetes mellitus|rare diabetes mellitus (disease)	http://purl.obolibrary.org/obo/MONDO_0015122	Rare diabetes mellitus.	ORPHA:101952|UMLS:CN226600
MONDO:0054730	spermatogenic failure 26	biolink:Disease	mondo	UMLS:CN244573|OMIM:617961		spermatogenic failure 26; SPGF26|SPGF26	http://purl.obolibrary.org/obo/MONDO_0054730		http://identifiers.org/omim/617961|UMLS:CN244573
MONDO:0017782	developmental and speech delay due to SOX5 deficiency	biolink:Disease	mondo	Orphanet:313892	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017782	Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).	ORPHA:313892
MONDO:0015121	obsolete rare eye tumor	biolink:Disease	mondo	Orphanet:101950	obsoletion_candidate|ordo_group_of_disorders	rare eye neoplasm	http://purl.obolibrary.org/obo/MONDO_0015121	Any of the forms of eye neoplasm that have a rare incidence.	ORPHA:101950
MONDO:0003128	classic pulmonary blastoma	biolink:Disease	mondo	NCIT:C36054|UMLS:C1332556|DOID:4767		biphasic pulmonary blastoma|classic pulmonary blastoma	http://purl.obolibrary.org/obo/MONDO_0003128	A pulmonary blastoma composed of a mixture of irregular tubular structures and mesenchymal elements.	NCIT:C36054|UMLS:C1332556|DOID:4767
MONDO:0003129	epithelial predominant pulmonary blastoma	biolink:Disease	mondo	UMLS:C1333420|NCIT:C36053|DOID:4768		epithelial predominant pulmonary blastoma	http://purl.obolibrary.org/obo/MONDO_0003129	A non-encapsulated, well defined pulmonary blastoma, composed of irregular tubular structures. It affects mostly middle-aged adults and it is rare in children. The prognosis is better compared to the biphasic pulmonary blastoma.	NCIT:C36053|UMLS:C1333420|DOID:4768
HGNC:30858	EFTUD2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30858		
HGNC:30859	SNRNP200	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30859		
MONDO:0003124	testicular Leydig cell tumor	biolink:Disease	mondo	UMLS:C0863027|NCIT:C6356|SCTID:67871000119105|EFO:1000569|DOID:4756		Leydig cell tumor of testis|Leydig cell tumor of the testis|Leydig cell tumor of testis|Leydig cell neoplasm of testis|Leydig cell neoplasm of the testis|testis Leydig cell tumor|testicular Leydig cell neoplasm|testicular Leydig cell tumor	http://purl.obolibrary.org/obo/MONDO_0003124	A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics.	UMLS:C0863027|SNOMEDCT:67871000119105|DOID:4756|NCIT:C6356
MONDO:0005787	hepatic tuberculosis	biolink:Disease	mondo	SCTID:186273003|ICD9:017.90|DOID:407|MESH:D014386|UMLS:C0041313|EFO:0007302		tuberculosis of liver	http://purl.obolibrary.org/obo/MONDO_0005787	Infection of the liver with species of mycobacterium, most often mycobacterium tuberculosis. It is characterized by localized small tuberculous miliary lesions or tumor-like mass (tuberculoma), and abnormalities in liver function tests.	SNOMEDCT:186273003|MESH:D014386|DOID:407|UMLS:C0041313
OBO:mondo#MISSPELLING	A synonym that is recorded for consistency with another source but is a misspelling	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/mondo#MISSPELLING		
MONDO:0003125	testicular sex cord-stromal neoplasm	biolink:Disease	mondo	NCIT:C6358|SCTID:702406000|UMLS:C3840076|DOID:4757|UMLS:CN204701|Orphanet:363489|ICD10:C62.1	ordo_disease	sex cord-stromal tumor of the testis|testis sex cord-stromal tumor|sex cord-stromal neoplasm of testis|sex cord-stromal tumor of testis|sex cord-stromal neoplasm of the testis|testicular sex cord-stromal tumor|sex cord-stromal neoplasm|testicular sex cord-stromal tumor|testicular sex cord-stromal neoplasm	http://purl.obolibrary.org/obo/MONDO_0003125	A benign or malignant tumor that arises from the testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the tumor or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, ten percent of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group.	NCIT:C6358|UMLS:C3840076|UMLS:CN204701|SNOMEDCT:702406000|ORPHA:363489|DOID:4757
MONDO:0005786	Hepadnaviridae infectious disease	biolink:Disease	mondo	UMLS:C0206746|MESH:D018347|EFO:0007301		Hepadnaviridae caused disease or disorder|Hepadnaviridae disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005786	Virus diseases caused by the hepadnaviridae.	UMLS:C0206746|MESH:D018347
MONDO:0005789	hepatitis D virus infection	biolink:Disease	mondo	ICD10:B17.0|MESH:D003699|ICD9:070.52|SCTID:707341005|DOID:2047|Orphanet:402823|EFO:0007304	ordo_disease	Hepatitis delta virus hepatitis|HDV|delta hepatitis|Hepatitis D virus|Hepatitis delta virus caused hepatitis|hepatitis type D|hepatitis delta	http://purl.obolibrary.org/obo/MONDO_0005789	Inflammation of the liver in humans caused by hepatitis delta virus, a defective rna virus that can only infect hepatitis B patients. For its viral coating, hepatitis delta virus requires the hepatitis B surface antigens produced by these patients. Hepatitis D can occur either concomitantly with (coinfection) or subsequent to (superinfection) hepatitis B infection. Similar to hepatitis B, it is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact.	SNOMEDCT:707341005|MESH:D003699|ORPHA:402823|DOID:2047
MONDO:0003126	breast hemangioma	biolink:Disease	mondo	DOID:476|UMLS:C0853715|NCIT:C5353		breast hemangioma|angioma of breast|hemangioma of the breast|hemangioma of breast|angioma of the breast|breast angioma	http://purl.obolibrary.org/obo/MONDO_0003126	A capillary or cavernous hemangioma arising from the breast.	NCIT:C5353|UMLS:C0853715|DOID:476
MONDO:0005788	hepatitis E virus infection	biolink:Disease	mondo	SCTID:7111000119109|UMLS:C0085293|GARD:0009541|MESH:D016751|DOID:4411|EFO:0007303	gard_rare	Hepatitis E virus caused hepatitis|Hepatitis E virus hepatitis|hepatitis type E	http://purl.obolibrary.org/obo/MONDO_0005788	Acute inflammation of the liver in humans; caused by hepatitis E virus, a non-enveloped single-stranded rna virus. Similar to hepatitis A, its incubation period is 15-60 days and is enterically transmitted, usually by fecal-oral transmission.	SNOMEDCT:7111000119109|MESH:D016751|UMLS:C0085293|DOID:4411
MONDO:0003127	embryoma	biolink:Disease	mondo	UMLS:C0936282|DOID:4766		embryoma|blastoma	http://purl.obolibrary.org/obo/MONDO_0003127		UMLS:C0936282|DOID:4766
MONDO:0003120	mixed testicular germ cell cancer	biolink:Disease	mondo	UMLS:C1336720|ONCOTREE:MGCT|NCIT:C6347|DOID:4743		mixed testicular germ cell tumor|testicular germ cell tumor (mixed)|mixed germ cell tumor|testicular mixed germ cell neoplasm|testis mixed germ cell tumor|mixed germ cell neoplasm of testis|mixed germ cell tumor of testis|testicular mixed germ cell tumor|mixed germ cell neoplasm of the testis|mixed germ cell tumor of the testis	http://purl.obolibrary.org/obo/MONDO_0003120	A malignant germ cell tumor that arises from the testis and is characterized by the presence of more than one histologic component. Representative examples include mixed choriocarcinoma and embryonal carcinoma, mixed embryonal carcinoma and seminoma, and mixed yolk sac tumor and teratoma.	UMLS:C1336720|DOID:4743|NCIT:C6347
MONDO:0005783	hemopericardium (disease)	biolink:Disease	mondo	ICD9:423.0|EFO:0007298|DOID:11482|UMLS:C0019064|COHD:258449|SCTID:23412002|HP:0011851		hemopericardium|haemopericardium	http://purl.obolibrary.org/obo/MONDO_0005783	An accumulation of blood within the pericardial sac.	NCIT:C111644|UMLS:C0019064|DOID:11482|SNOMEDCT:23412002
MONDO:0003121	middle cranial fossa meningioma	biolink:Disease	mondo	DOID:4749|NCIT:C5586|UMLS:C1334757		middle cranial fossa meningioma (disease)|meningioma (disease) of middle cranial fossa|meningioma of the middle cranial fossa|meningioma of middle cranial fossa	http://purl.obolibrary.org/obo/MONDO_0003121	A meningioma that affects the middle cranial fossa.	NCIT:C5586|UMLS:C1334757|DOID:4749
MONDO:0005782	obsolete HELLP syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005782		
MONDO:0003122	striatonigral degeneration	biolink:Disease	mondo	UMLS:C0270733|ICD10:G23.2|SCTID:29618004|ICD9:333.0|NCIT:C125695|MESH:D020955|DOID:4751|OMIMPS:271930			http://purl.obolibrary.org/obo/MONDO_0003122	A progressive neurodegenerative disorder caused by a disruption in the connection between the striatum and the substantia nigra. It is a type of multiple system atrophy (MSA). Signs and symptoms include rigidity, instability, impaired speech, and slow movements.	NCIT:C125695|MESH:D020955|SNOMEDCT:29618004|UMLS:C0270733|DOID:4751
MONDO:0005785	henipavirus infectious disease	biolink:Disease	mondo	EFO:0007300|MESH:D045464		Henipavirus infectious disease|Henipavirus caused disease or disorder|Henipavirus disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005785	Infections with viruses of the genus henipavirus, family paramyxoviridae.	MESH:D045464
MONDO:0005784	hantavirus hemorrhagic fever with renal syndrome	biolink:Disease	mondo	EFO:0007299|NCIT:C84753|ICD9:078.6|DOID:11266|ICD10:A98.5|SCTID:102455002		hemorrhagic nephrosonephritis|Puumala virus nephropathy|hemorrhagic fever with renal syndrome|hemorrhagic fever, Russian|HFRS	http://purl.obolibrary.org/obo/MONDO_0005784	A disorder caused by hantaviruses of the family Bunyaviridae. It is transmitted by rodents and is manifested with fever, hemorrhage, and renal failure. Other symptoms include headaches, abdominal and back pain, and blurred vision.	NCIT:C84753|SNOMEDCT:102455002|DOID:11266
MONDO:0003123	obsolete multiple system atrophy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003123		
GO:1900373	positive regulation of purine nucleotide biosynthetic process	biolink:OntologyClass	mondo			up regulation of purine nucleotide synthesis|up-regulation of purine nucleotide formation|positive regulation of purine nucleotide biosynthesis|positive regulation of purine nucleotide synthesis|up regulation of purine nucleotide biosynthesis|upregulation of purine nucleotide anabolism|up regulation of purine nucleotide biosynthetic process|up regulation of purine nucleotide formation|activation of purine nucleotide anabolism|activation of purine nucleotide biosynthetic process|up-regulation of purine nucleotide biosynthetic process|positive regulation of purine nucleotide formation|up-regulation of purine nucleotide biosynthesis|upregulation of purine nucleotide synthesis|activation of purine nucleotide synthesis|up-regulation of purine nucleotide anabolism|upregulation of purine nucleotide formation|activation of purine nucleotide formation|activation of purine nucleotide biosynthesis|up regulation of purine nucleotide anabolism|upregulation of purine nucleotide biosynthetic process|upregulation of purine nucleotide biosynthesis|up-regulation of purine nucleotide synthesis|positive regulation of purine nucleotide anabolism	http://purl.obolibrary.org/obo/GO_1900373	Any process that activates or increases the frequency, rate or extent of purine nucleotide biosynthetic processes.	
MONDO:0005781	obsolete hantavirus pulmonary syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005781		
MONDO:0005780	hantavirus infectious disease	biolink:Disease	mondo	UMLS:C0242994|EFO:0007295|ICD9:079.81|MESH:D018778|SCTID:359761005|NCIT:C3899		infections, Hantavirus|Hantavirus disease or disorder|Hantavirus infection|disease due to hantavirus|disease caused by hantavirus|Hantavirus infectious disease|Hantavirus caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005780	Any infection caused by a virus of the genus Hantavirus, which is transmitted by aerosolized rodent excreta or rodent bites, that can result in a variety of clinical manifestations from hemorrhagic fever with renal syndrome to a pulmonary syndrome.	SNOMEDCT:359761005|NCIT:C3899|UMLS:C0242994|MESH:D018778
MONDO:0015117	obsolete rare hepatic and biliary tract tumor	biolink:Disease	mondo	UMLS:CN197474|Orphanet:101943	obsoletion_candidate|ordo_group_of_disorders	rare hepatobiliary neoplasm	http://purl.obolibrary.org/obo/MONDO_0015117	Any of the forms of hepatobiliary neoplasm that have a rare incidence.	UMLS:CN197474|ORPHA:101943
MONDO:0015116	obsolete rare biliary tract disease	biolink:Disease	mondo	UMLS:CN197473|Orphanet:101941	obsoletion_candidate|ordo_group_of_disorders	rare biliary tract disease	http://purl.obolibrary.org/obo/MONDO_0015116	Rare biliary tract disease.	UMLS:CN197473|ORPHA:101941
MONDO:0015115	obsolete rare genetic metabolic liver disease	biolink:Disease	mondo	Orphanet:101940|UMLS:C0851734	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015115		UMLS:C0851734|ORPHA:101940
MONDO:0015114	obsolete rare parenchymal liver disease	biolink:Disease	mondo	UMLS:CN197471|Orphanet:101939	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0015114		UMLS:CN197471|ORPHA:101939
MONDO:0017776	nocardiosis	biolink:Disease	mondo	ICD10:A43.1|ICD10:A43.0|EFO:0007397|GARD:0007210|SCTID:29227009|MESH:D009617|ICD10:A43.9|ICD10:A43.8|ICD10:A43|Orphanet:31204|DOID:2312|MedDRA:10029444	gard_rare|ordo_disease	lung nocardiosis|Nocardia infectious disease|Nocardia disease or disorder|Nocardia infection|Nocardia caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0017776	Nocardiosis is a local (skin, lung, brain) or disseminated (whole body) acute, subacute, or chronic bacterial infection.	SNOMEDCT:29227009|ORPHA:31204|MESH:D009617|MESH:C536125|MEDDRA:10029444|DOID:2312
MONDO:0017777	obsolete rat-bite fever	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0017777		
MONDO:0017778	lamellar ichthyosis	biolink:Disease	mondo	MESH:D017490|GARD:0010803|MedDRA:10023686|NCIT:C84805|Orphanet:313|ICD10:Q80.2	ordo_disease	congenital lamellar ichthyosis|LI|classic lamellar ichthyosis	http://purl.obolibrary.org/obo/MONDO_0017778	Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma.	MESH:D017490|NCIT:C84805|ORPHA:313|MEDDRA:10023686
MONDO:0015119	bronchopulmonary tumor	biolink:Disease	mondo	Orphanet:101945|UMLS:CN197476	ordo_group_of_disorders|obsoletion_candidate	rare bronchopulmonary tumor	http://purl.obolibrary.org/obo/MONDO_0015119		UMLS:CN197476|ORPHA:101945
MONDO:0017779	alpha-N-acetylgalactosaminidase deficiency	biolink:Disease	mondo	ICD10:E77.1|ICD9:277.89|SCTID:238048001|Orphanet:3137	ordo_disease	Schindler disease|alpha-N-acetylgalactosaminidase activity disease|NAGA deficiency|disorder of alpha-N-acetylgalactosaminidase activity|disorder of alpha-N-acetylgalactosaminidase activity	http://purl.obolibrary.org/obo/MONDO_0017779	Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity.	SNOMEDCT:238048001|ORPHA:3137|UMLS:C0342850
MONDO:0015118	obsolete rare pulmonary disease	biolink:Disease	mondo	Orphanet:101944			http://purl.obolibrary.org/obo/MONDO_0015118		ORPHA:101944
MONDO:0017772	oral erosive lichen	biolink:Disease	mondo	Orphanet:31142|UMLS:CN203692|ICD10:L43.8	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017772		UMLS:CN203692|ORPHA:31142
MONDO:0054761	microcephaly 20, primary, autosomal recessive	biolink:Disease	mondo	OMIM:617914		MCPH20|microcephaly 20, PRIMARY, autosomal recessive; MCPH20	http://purl.obolibrary.org/obo/MONDO_0054761		http://identifiers.org/omim/617914
MONDO:0017773	hypoalphalipoproteinemia	biolink:Disease	mondo	Orphanet:31153|ICD10:E78.6|SCTID:190785000|MedDRA:10065156|UMLS:C0473527|MESH:D052456|NCIT:C84774	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017773	A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood.	NCIT:C84774|MEDDRA:10065156|ORPHA:31153|SNOMEDCT:190785000|MESH:D052456|UMLS:C0473527
MONDO:0017774	hypobetalipoproteinemia	biolink:Disease	mondo	Orphanet:31154|DOID:1390|ICD10:E78.6|UMLS:C0020597|SCTID:190786004|MESH:D006995	ordo_group_of_disorders	hypo-beta-lipoproteinemia	http://purl.obolibrary.org/obo/MONDO_0017774	Hypobetalipoproteinemia (HBL) constitutes a group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol.	UMLS:C0020597|ORPHA:31154|SNOMEDCT:190786004|MESH:D006995|DOID:1390
MONDO:0017775	melioidosis	biolink:Disease	mondo	MESH:D008554|UMLS:C0025229|MedDRA:10069748|DOID:5052|ICD10:A24.4|ICD10:A24.9|ICD10:A24.3|NCIT:C128336|ICD10:A24.2|ICD10:A24.1|UMLS:C0348971|ICD9:025|Orphanet:31202|UMLS:C0348970|SCTID:186312003|GARD:0009546	ordo_disease|gard_rare	Nightcliff gardener's disease|Burkholderia pseudomallei infection|B pseudomallei infection|Burkholderia pseudomallei disease or disorder|Whitmore's disease|Burkholderia pseudomallei infectious disease|acute and fulminating melioidosis|Burkholderia pseudomallei caused disease or disorder|pseudoglanders|Whitmore disease|subacute and chronic melioidosis	http://purl.obolibrary.org/obo/MONDO_0017775	An infection that is caused by Burkholderia pseudomallei, which is found in soil and water; symptoms vary widely, but most commonly include fever, cough, pneumonia, arthralgia, myalgia, and skin ulceration.	MEDDRA:10069748|UMLS:C0348971|UMLS:C0348970|DOID:5052|UMLS:C0025229|ORPHA:31202|NCIT:C128336|MESH:D008554|SNOMEDCT:186312003
MONDO:0054765	amyloidosis, primary localized cutaneous, 3	biolink:Disease	mondo	OMIM:617920		amyloidosis cutis dyschromica|amyloidosis, PRIMARY LOCALIZED cutaneous, 3; PLCA3|PLCA3	http://purl.obolibrary.org/obo/MONDO_0054765		http://identifiers.org/omim/617920
MONDO:0015113	obsolete rare vascular liver disease	biolink:Disease	mondo	Orphanet:101938	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0015113		ORPHA:101938
MONDO:0015112	obsolete rare pancreatic disease	biolink:Disease	mondo	Orphanet:101937	ordo_group_of_disorders|obsoletion_candidate	rare pancreas disease	http://purl.obolibrary.org/obo/MONDO_0015112	Any of the forms of pancreas disease that have a rare incidence.	ORPHA:101937
MONDO:0054764	neurodegeneration with brain iron accumulation 8	biolink:Disease	mondo	UMLS:CN895591|OMIM:617917		NBIA8|neurodegeneration with brain iron accumulation 8; NBIA8	http://purl.obolibrary.org/obo/MONDO_0054764		http://identifiers.org/omim/617917|UMLS:CN895591
MONDO:0015111	gastroesophageal disease	biolink:Disease	mondo	Orphanet:101936|UMLS:CN197468	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0015111		UMLS:CN197468|ORPHA:101936
MONDO:0017770	Robinow-like syndrome	biolink:Disease	mondo	SCTID:721905000|ICD10:Q87.1|Orphanet:3105|UMLS:C4302956|UMLS:CN203671	ordo_malformation_syndrome	Saal-Greenstein syndrome	http://purl.obolibrary.org/obo/MONDO_0017770	Robinow-like syndrome is characterized by the association of the clinical features present in Robinow syndrome (short stature, mesomelic brachymelia, macrocephaly, and hypoplastic genitalia), with anterior chamber cleavage anomalies. It has been described in two sisters and is transmitted as an autosomal recessive trait.	ORPHA:3105|UMLS:CN203671|SNOMEDCT:721905000|UMLS:C4302956
MONDO:0054763	neurodegeneration with brain iron accumulation 7	biolink:Disease	mondo	UMLS:CN895590|OMIM:617916		NBIA7|neurodegeneration with brain iron accumulation 7; NBIA7	http://purl.obolibrary.org/obo/MONDO_0054763		http://identifiers.org/omim/617916|UMLS:CN895590
MONDO:0015110	genetic cardiac rhythm disease	biolink:Disease	mondo	UMLS:CN197467|Orphanet:101934	ordo_group_of_disorders	genetic cardiac rhythm disease	http://purl.obolibrary.org/obo/MONDO_0015110	An instance of cardiac rhythm disease that is caused by a modification of the individual's genome.	UMLS:CN197467|ORPHA:101934
MONDO:0017771	Mayer-Rokitansky-Kuster-Hauser syndrome	biolink:Disease	mondo	NCIT:C124853|ICD10:Q51.8|Orphanet:3109|MedDRA:10065148	ordo_malformation_syndrome	MRKH|Mullerian aplasia/dysgenesis|MRKH syndrome|Rokitansky syndrome|Mayer-Rokitansky-Küster-Hauser syndrome	http://purl.obolibrary.org/obo/MONDO_0017771	Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).	ORPHA:3109|NCIT:C124853|MEDDRA:10065148
MONDO:0003139	mesangial proliferative glomerulonephritis	biolink:Disease	mondo	DOID:4783|SCTID:35546006|NCIT:C35445|UMLS:C0221238|GARD:0009580	gard_rare	glomerulonephritis - mesangial proliferative|Mesangioproliferative glomerulonephritis|mesangial proliferative GN	http://purl.obolibrary.org/obo/MONDO_0003139	Mesangial proliferative glomerulonephritis (MPGN) is a condition that affects the kidneys. Many experts consider it a variant of minimal change disease, but some experts believe it is a separate condition. It may present with nephrotic syndrome, which is a group of symptoms that include protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, high triglyceride levels, and swelling. It can also present with blood in the urine (hematuria). MPGN is characterized by an increased number of mesangial cells in the glomeruli in the kidneys and damage to the glomeruli. Glomeruli are the structures that help filter wastes and fluids. MPGN may occur in several renal diseases such as IgA nephropathy (commonly), IgM nephropathy, lupus nephritis, and C1q nephropathy.However, in some cases, the underlying cause of MPGN remains unclear. Treatment may depend on the cause (if known) and may include steroids, mycophenolate mofetil, and/or cyclophosphamide, and other therapies to treat specific symptoms. Most people with MPGN have a good prognosis, but some may develop chronic kidney disease, which can progress to end stage renal failure.	SNOMEDCT:35546006|NCIT:C35445|DOID:4783|UMLS:C0221238
GO:0071495	cellular response to endogenous stimulus	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0071495	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus arising within the organism.	
MONDO:0003135	focal embolic glomerulonephritis	biolink:Disease	mondo	UMLS:C0238143|NCIT:C35707|DOID:4779			http://purl.obolibrary.org/obo/MONDO_0003135	Inflammation of a specific segment of glomeruli, which is associated with subacute bacterial endocarditis, and frequently produces microscopic hematuria without azotemia.	UMLS:C0238143|NCIT:C35707|DOID:4779
MONDO:0005798	HIV-associated nephropathy	biolink:Disease	mondo	UMLS:C0078911|NCIT:C26918|EFO:0007313|MESH:D016263		AIDS-associated nephropathy|HIVAN|AIDS-related nephropathy|HIV nephropathy	http://purl.obolibrary.org/obo/MONDO_0005798	Renal disease in human immunodeficiency virus (HIV)-infected patients. It is characterized by nephrotic syndrome, azotemia, normal to large kidneys on ultrasound images, and focal segmental glomerulosclerosis on renal biopsy findings.	MESH:D016263|NCIT:C26918|UMLS:C0078911
MONDO:0005797	HIV wasting syndrome	biolink:Disease	mondo	Orphanet:90081|UMLS:C0343755|MESH:D019247|EFO:0007312			http://purl.obolibrary.org/obo/MONDO_0005797	Involuntary weight loss of greater than 10 percent associated with intermittent or constant fever and chronic diarrhea or fatigue for more than 30 days in the absence of a defined cause other than hiv infection. A constant feature is major muscle wasting with scattered myofiber degeneration. A variety of etiologies, which vary among patients, contributes to this syndrome. (From Harrison's Principles of Internal Medicine, 13th ed, p1611).	ORPHA:90081|UMLS:C0343755|MESH:D019247
MONDO:0003136	anti-basement membrane glomerulonephritis	biolink:Disease	mondo	DOID:4780|UMLS:C1332309|NCIT:C35798		anti-glomerular basement Membrane antibody disease|anti-GBM antibody disease	http://purl.obolibrary.org/obo/MONDO_0003136	Inflammation of the glomeruli secondary to presence of autoantibodies directed at specific antigenic targets within the glomerular basement membrane, causing hematuria, proteinuria, and impaired renal function.	UMLS:C1332309|NCIT:C35798|DOID:4780
MONDO:0003137	diffuse glomerulonephritis	biolink:Disease	mondo	DOID:4781|NCIT:C35799|UMLS:C0859036			http://purl.obolibrary.org/obo/MONDO_0003137	Inflammation of the glomeruli, in which all glomeruli are affected, resulting in renal failure.	UMLS:C0859036|NCIT:C35799|DOID:4781
MONDO:0054749	obsolete body mass index quantitative trait locus 19	biolink:Disease	mondo	OMIM:617885		BMIQ19|obesity, Susceptibility to|body MASS index quantitative trait locus 19; BMIQ19	http://purl.obolibrary.org/obo/MONDO_0054749		http://identifiers.org/omim/617885
MONDO:0003138	subacute glomerulonephritis	biolink:Disease	mondo	DOID:4782|SCTID:123609007|NCIT:C35801|UMLS:C1263744			http://purl.obolibrary.org/obo/MONDO_0003138	A term that refers to glomerular damage resulting in hematuria, proteinuria, and azotemia. The histopathologic changes include rapidly progressive glomerulonephritis and membranoproliferative glomerulonephritis.	UMLS:C1263744|NCIT:C35801|DOID:4782|SNOMEDCT:123609007
MONDO:0054748	Fanconi anemia, complementation group S	biolink:Disease	mondo	OMIM:617883		Fanconi anemia, complementation GROUP S; FANCS|FANCS	http://purl.obolibrary.org/obo/MONDO_0054748		http://identifiers.org/omim/617883
MONDO:0005799	hookworm infectious disease	biolink:Disease	mondo	EFO:0007314		Bunostomiases|Bunostomiasis|infection, hookworm|infections, hookworm|hookworm infection	http://purl.obolibrary.org/obo/MONDO_0005799	Infection of humans or animals with hookworms other than those caused by the genus Ancylostoma or Necator, for which the specific terms ancylostomiasis and necatoriasis are available.	
MONDO:0005794	Herpesviridae infectious disease	biolink:Disease	mondo	EFO:0007309|SCTID:23513009|MESH:D006566		herpesvirus infection|herpes infection|infections, Herpesvirus|infection, Herpesviridae|Herpesviridae infections|infection, Herpesvirus|Herpesvirus infections|Herpesviridae caused disease or disorder|Herpesviridae infection|Herpesviridae disease or disorder|Herpesvirus infection|infections, Herpesviridae	http://purl.obolibrary.org/obo/MONDO_0005794	Virus diseases caused by the herpesviridae.	SNOMEDCT:23513009|MESH:D006566
GO:1900389	obsolete regulation of glucose import by regulation of transcription from RNA polymerase II promoter	biolink:OntologyClass	mondo			regulation of glucose uptake by regulation of transcription from RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_1900389	OBSOLETE. A regulation of transcription from RNA polymerase II promoter that results in regulation of glucose import.	
MONDO:0003131	obsolete congenital mesoblastic nephroma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003131		
MONDO:0005793	obsolete herpes simplex virus keratitis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005793		
MONDO:0003132	obsolete rapidly progressive glomerulonephritis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003132		
MONDO:0005796	HIV enteropathy	biolink:Disease	mondo	MESH:D019053|UMLS:C0282616|EFO:0007311			http://purl.obolibrary.org/obo/MONDO_0005796	A syndrome characterized by chronic, well-established diarrhea (greater than one month in duration) without an identified infectious cause after thorough evaluation, in an hiv-positive individual. It is thought to be due to direct or indirect effects of hiv on the enteric mucosa. hiv enteropathy is a diagnosis of exclusion and can be made only after other forms of diarrheal illness have been ruled out. (Harrison's Principles of Internal Medicine, 13th ed, pp1607-8; Haubrich et al., Bockus Gastroenterology, 5th ed, p1155)	UMLS:C0282616|MESH:D019053
MONDO:0003133	exudative glomerulonephritis	biolink:Disease	mondo	NCIT:C35706|DOID:4777|UMLS:C0546345			http://purl.obolibrary.org/obo/MONDO_0003133	Inflammation of the glomeruli with infiltration by polymorphonuclear leukocytes.	NCIT:C35706|DOID:4777|UMLS:C0546345
MONDO:0003134	proliferative glomerulonephritis	biolink:Disease	mondo	UMLS:C0235618|ICD9:583.0|DOID:4778|NCIT:C35281|SCTID:441815006			http://purl.obolibrary.org/obo/MONDO_0003134	A constellation of renal disorders characterized by an increase number of cells in the glomerulus; these disorders generally present with nephrotic syndrome, and generally progress to end stage renal failure over a matter of weeks to years, depending on the etiology. Examples include IgA nephropathy, membranoproliferative glomerulonephritis, and rapidly progressive glomerulonephritis.	NCIT:C35281|SNOMEDCT:441815006|UMLS:C0235618|DOID:4778
MONDO:0005795	obsolete histoplasmosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005795		
MONDO:0005790	hepatitis A virus infection	biolink:Disease	mondo	DOID:12549|SCTID:40468003|NCIT:C3096|EFO:0007305|UMLS:C0019159|MESH:D006506		viral hepatitis, type A|hepatitis type A|viral hepatitis A|Hepatitis A infection|Hepatitis A	http://purl.obolibrary.org/obo/MONDO_0005790	Acute inflammation of the liver caused by the hepatitis A virus. It is highly contagious and usually contracted through close contact with an infected individual or their feces, contaminated food or water.	UMLS:C0019159|MESH:D006506|DOID:12549|NCIT:C3096|SNOMEDCT:40468003
MONDO:0005792	herpes simplex virus gingivostomatitis	biolink:Disease	mondo	MESH:D013283|EFO:0007307|SCTID:57920007		Simplexvirus caused stomatitis|Gingivostomatitis, herpetic|Gingivostomatitides, herpetic|Simplexvirus stomatitis|herpetic stomatitis|herpetic Stomatitides|herpetic Gingivostomatitis|oral Herpes simplex|simplex, oral Herpes|Herpes simplex, oral|herpetic Gingivostomatitides|Stomatitides, herpetic	http://purl.obolibrary.org/obo/MONDO_0005792	Stomatitis caused by Herpesvirus hominis. It usually occurs as acute herpetic stomatitis (or gingivostomatitis), an oral manifestation of primary herpes simplex seen primarily in children and adolescents.	MESH:D013283|SNOMEDCT:57920007
GO:1900387	obsolete negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1900387	OBSOLETE. A negative regulation of transcription from RNA polymerase II promoter that results in negative regulation of cell-cell adhesion.	
MONDO:0003130	mesoblastic nephroma	biolink:Disease	mondo	UMLS:C0206628|MESH:D018201|ICD9:236.99|DOID:4772|SCTID:307604008		mesoblastic nephroma (morphologic abnormality)|mesoblastic nephroma	http://purl.obolibrary.org/obo/MONDO_0003130	A solid, unencapsulated tumor of the kidney composed of spindle mesenchymal cells that resemble fibroblasts or muscle cells. The homogeneous mass typically extends into the renal parenchyma and replaces most of the kidney. In most cases, mesoblastic nephroma is benign and occurs in the fetus or newborn, and rarely in the older child or the adult.	SNOMEDCT:307604008|DOID:4772|UMLS:C0206628|MESH:D018201
MONDO:0005791	herpangina	biolink:Disease	mondo	ICD9:074.0|SCTID:274102007|ICD10:B08.5|UMLS:C0019338|DOID:10883|EFO:0007306|COHD:132553|MESH:D006557		vesicular pharyngitis	http://purl.obolibrary.org/obo/MONDO_0005791	A viral infectious disease that results in infection located in mouth, has material basis in Human coxsackievirus A16, has material basis in Human enterovirus 71, has material basis in group B coxsackievirus, or has material basis in echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars.	DOID:10883|SNOMEDCT:274102007|UMLS:C0019338|MESH:D006557
MONDO:0017769	acquired immunodeficiency	biolink:Disease	mondo	Orphanet:310050	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017769		ORPHA:310050
MONDO:0015106	obsolete rare urogenital disease	biolink:Disease	mondo	UMLS:CN197464|Orphanet:101433	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015106		ORPHA:101433|UMLS:CN197464
GO:1900392	obsolete regulation of transport by negative regulation of transcription from RNA polymerase II promoter	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1900392	OBSOLETE. A negative regulation of transcription from RNA polymerase II promoter that results in regulation of transport.	
MONDO:0015105	obsolete African tick typhus	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015105		
MONDO:0015104	porphyria cutanea tarda	biolink:Disease	mondo	Orphanet:101330|MedDRA:10036183|ICD10:E80.1|DOID:3132|ONCOTREE:PCT|MESH:D017119|NCIT:C27725|UMLS:C0162566|SCTID:61860000|GARD:0007433	ordo_disease	PCT|porphyria cutania tarda	http://purl.obolibrary.org/obo/MONDO_0015104	Porphyria cutanea tarda (PCT) is the most common form of chronic hepatic porphyria. It is characterized by bullous photodermatitis.	MESH:D017119|NCIT:C27725|ORPHA:101330|SNOMEDCT:61860000|MEDDRA:10036183|UMLS:C0162566|DOID:3132
MONDO:0015103	pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome	biolink:Disease	mondo	UMLS:CN197455|Orphanet:101206|ICD10:Q22.2	ordo_malformation_syndrome	APV/ADA, Fallot type|PVA/ADA, Fallot type|absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome	http://purl.obolibrary.org/obo/MONDO_0015103	Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion.	ORPHA:101206|UMLS:CN197455
GO:1900393		biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_1900393		
MONDO:0017765	disorder of magnesium transport	biolink:Disease	mondo	ICD10:E83.4|UMLS:CN227207|Orphanet:309848	ordo_group_of_disorders	inborn magnesium ion transport disorder|rare inborn error of magnesium ion transport|inborn error of magnesium ion transport|rare inborn error of magnesium ion transport	http://purl.obolibrary.org/obo/MONDO_0017765	An acquired metabolic disease that is has its basis in the disruption of magnesium ion transport.	ORPHA:309848|UMLS:CN227207
MONDO:0017766	disorder of manganese transport	biolink:Disease	mondo	ICD10:E83.8|Orphanet:309851|UMLS:CN227208	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017766		ORPHA:309851|UMLS:CN227208
MONDO:0015109	congenital anomaly of the mitral subvalvular apparatus	biolink:Disease	mondo	ICD10:Q23.8|Orphanet:101932	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0015109		ORPHA:101932
MONDO:0017767	rheumatic fever	biolink:Disease	mondo	ICD9:390-392.99|ICD10:I01.1|ICD9:390|SCTID:58718002|ICD10:I01.0|Orphanet:3099|EFO:1001160|ICD10:I00|MESH:D012213|NCIT:C34984|ICD10:I01.9|ICD10:I01.8|MedDRA:10039054|ICD10:I00-I02|DOID:1586|GARD:0005699|UMLS:C0035436|ICD10:I01.2	ordo_disease|gard_rare	ARF|inflammatory rheumatism|acute rheumatic fever|RHF - rheumatic fever	http://purl.obolibrary.org/obo/MONDO_0017767	Rheumatic fever (RF) is a multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis.	UMLS:C0035436|MEDDRA:10039054|DOID:1586|ORPHA:3099|MESH:D012213|SNOMEDCT:58718002|NCIT:C34984
MONDO:0015108	obsolete rare non-syndromic intellectual disability	biolink:Disease	mondo	UMLS:CN226598|GARD:0012633|Orphanet:101685	obsoletion_candidate|ordo_disease	rare NSID|rare intellectual disability without developmental anomaly|rare non-syndromic intellectual disability|rare non-syndromic intellectual deficiency	http://purl.obolibrary.org/obo/MONDO_0015108	Rare non-syndromic intellectual disability.	ORPHA:101685|UMLS:CN226598
MONDO:0017768	reflex epilepsy	biolink:Disease	mondo	DOID:2548|Orphanet:310|SCTID:79745005|UMLS:C0270857|NCIT:C85041|MESH:D020195|EFO:1001146|ICD10:G40.8|ICD9:345.10	ordo_group_of_disorders	epilepsy, sensory-induced	http://purl.obolibrary.org/obo/MONDO_0017768	Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy).	NCIT:C85041|DOID:2548|MESH:D020195|SNOMEDCT:79745005|ORPHA:310|UMLS:C0270857
MONDO:0015107	obsolete rare genetic eye disease	biolink:Disease	mondo	UMLS:CN197465|Orphanet:101435	obsoletion_candidate|ordo_group_of_disorders	rare genetic eye disease|rare genetic ophthalmologic disease	http://purl.obolibrary.org/obo/MONDO_0015107	A form of eye disease that is both rare and inborn.	ORPHA:101435|UMLS:CN197465
MONDO:0017761	disorder of mineral absorption and transport	biolink:Disease	mondo	ICD10:E83.8|ICD10:E83.5|ICD10:E83.4|ICD10:E83.3|ICD10:E83.2|ICD10:E83.1|ICD10:E83.0|UMLS:CN227205|Orphanet:309836|ICD10:E83.9	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017761		ORPHA:309836|UMLS:CN227205
MONDO:0054750	amyotrophic lateral sclerosis, susceptibility to, 24	biolink:Disease	mondo	UMLS:CN842244|OMIM:617892	predisposition	ALS24|amyotrophic lateral sclerosis, susceptibility to, 24; ALS24	http://purl.obolibrary.org/obo/MONDO_0054750		UMLS:CN842244|http://identifiers.org/omim/617892
MONDO:0017762	disorder of copper metabolism	biolink:Disease	mondo	SCTID:79886009|ICD9:275.1|COHD:436672|UMLS:CN043585|ICD10:E83.0|MedDRA:10061091|UMLS:C0012714|Orphanet:309839	ordo_group_of_disorders	rare inborn error of cellular copper ion homeostasis|copper Transport disorders|inborn cellular copper ion homeostasis disorder|rare inborn error of cellular copper ion homeostasis|inborn error of cellular copper ion homeostasis	http://purl.obolibrary.org/obo/MONDO_0017762	An acquired metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis.	SNOMEDCT:79886009|ORPHA:309839|UMLS:CN043585|UMLS:C0012714|MEDDRA:10061091
MONDO:0017763	disorder of iron metabolism and transport	biolink:Disease	mondo	Orphanet:309842|UMLS:CN227206|ICD10:E83.1	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017763		ORPHA:309842|UMLS:CN227206
MONDO:0017764	disorder of zinc metabolism	biolink:Disease	mondo	MedDRA:10048260|Orphanet:309845|ICD9:275.8|ICD10:E83.2|SCTID:46727001	ordo_group_of_disorders	disorder of zinc metabolism and transport	http://purl.obolibrary.org/obo/MONDO_0017764		ORPHA:309845|UMLS:C0268085|MEDDRA:10048260|SNOMEDCT:46727001
MONDO:0054754	encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8	biolink:Disease	mondo	OMIM:617900|UMLS:CN865669	predisposition	IIAE8|encephalopathy, ACUTE, infection-induced (HERPES-specific), susceptibility to, 8; IIAE8|Herpes simplex encephalitis, Susceptibility to, 6	http://purl.obolibrary.org/obo/MONDO_0054754		http://identifiers.org/omim/617900|UMLS:CN865669
MONDO:0015102	non-secreting chemodectoma	biolink:Disease	mondo	Orphanet:101106	ordo_clinical_subtype	non-functioning chemodectoma|non-secreting chemodectoma	http://purl.obolibrary.org/obo/MONDO_0015102		ORPHA:101106
MONDO:0015101	Marin-Amat syndrome	biolink:Disease	mondo	UMLS:CN197448|ICD10:Q07.8|Orphanet:101104	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0015101		ORPHA:101104|UMLS:CN197448
MONDO:0015100	aregenerative anemia	biolink:Disease	mondo	Orphanet:101096|ICD10:D46.7|MedDRA:10054329|UMLS:C0553669|SCTID:89112009	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015100		SNOMEDCT:89112009|ORPHA:101096|MEDDRA:10054329|UMLS:C0553669
MONDO:0054752	multiple synostoses syndrome 4	biolink:Disease	mondo	UMLS:CN842246|OMIM:617898		multiple synostoses syndrome 4; SYNS4|SYNS4	http://purl.obolibrary.org/obo/MONDO_0054752		UMLS:CN842246|http://identifiers.org/omim/617898
MONDO:0017760	disorder of other vitamins and cofactors metabolism and transport	biolink:Disease	mondo	Orphanet:309833|UMLS:CN227204	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017760		ORPHA:309833|UMLS:CN227204
HGNC:17893	PGAP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17893		
GO:0071496	cellular response to external stimulus	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0071496	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external stimulus.	
HGNC:30839	KRT25	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30839		
HGNC:30836	POC1B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30836		
MONDO:0015171	congenital enterocyte heparan sulfate deficiency	biolink:Disease	mondo	SCTID:725591002|ICD10:P78.3|Orphanet:103910	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015171	Congenital enterocyte heparan sulphate deficiency is characterised by massive enteric protein loss, secretory diarrhoea, and intolerance to enteral feeds during the first few weeks of life.	SNOMEDCT:725591002|ORPHA:103910
MONDO:0030720	trichomonal vulvovaginitis	biolink:Disease	mondo	UMLS:C2945558|SCTID:81598001|ICD9:131.01		trichomonal leukorrhea|Trichomonas vaginalis vulvovaginitis|leukorrhea vaginalis - trichomonal|Trichomonas vaginalis caused vulvovaginitis|trichomonal vulvovaginitis	http://purl.obolibrary.org/obo/MONDO_0030720	An vulvovaginitis caused by infection with Trichomonas vaginalis.	SNOMEDCT:81598001|UMLS:C2945558
MONDO:0015170	congenital sodium diarrhea	biolink:Disease	mondo	ICD10:P78.3|Orphanet:103908|SCTID:18805001	ordo_disease	Na-H exchange deficiency	http://purl.obolibrary.org/obo/MONDO_0015170	Congenital sodium diarrhea is characterized by severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis.	SNOMEDCT:18805001|ORPHA:103908
HGNC:30832	TRAPPC9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30832		
MONDO:0003186	esophageal adenoid cystic carcinoma	biolink:Disease	mondo	NCIT:C5342|UMLS:C1333441|DOID:4878		adenoid cystic carcinoma of the esophagus|adenoid cystic carcinoma of esophagus|esophageal adenoid cystic carcinoma|adenoid cystic esophagus carcinoma|esophageal adenoid cystic cancer|esophagus adenoid cystic carcinoma|adenoid cystic carcinoma, esophagus	http://purl.obolibrary.org/obo/MONDO_0003186	An infrequent esophageal carcinoma arising from esophageal glands. (WHO)	DOID:4878|NCIT:C5342|UMLS:C1333441
MONDO:0003187	Bartholin gland adenoid cystic carcinoma	biolink:Disease	mondo	NCIT:C40295|DOID:4879|UMLS:C1511047		major vestibular gland adenoid cystic carcinoma|Bartholin's gland adenoid cystic carcinoma|Bartholin gland adenoid cystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0003187	A carcinoma that arises from the Bartholin gland and is characterized by the presence of islands of uniform malignant cells forming cribriform patterns.	UMLS:C1511047|DOID:4879|NCIT:C40295
MONDO:0003188	obsolete juvenile myoclonic epilepsy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003188		
HGNC:29843	NSMF	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29843		
MONDO:0003189	middle ear adenocarcinoma	biolink:Disease	mondo	NCIT:C6848|UMLS:C1334758|DOID:4892		adenocarcinoma of the middle Ear|adenocarcinoma of middle ear|adenocarcinoma of the middle ear|middle ear adenocarcinoma|middle Ear adenocarcinoma|adenocarcinoma of middle Ear	http://purl.obolibrary.org/obo/MONDO_0003189	A carcinoma that arises from glandular epithelial cells of the middle ear	DOID:4892|NCIT:C6848|UMLS:C1334758
MONDO:0003182	anterior horn disease	biolink:Disease	mondo	DOID:4873|ICD9:335|ICD9:335.9		disorder of ventral horn of spinal cord|ventral horn of spinal cord disease|disease or disorder of ventral horn of spinal cord|ventral horn of spinal cord disease or disorder|disease of ventral horn of spinal cord|disorder of ventral horn of spinal cord	http://purl.obolibrary.org/obo/MONDO_0003182	Anterior horn disease is one of a number of medical disorders affecting the anterior horn of the spinal cord. Anterior horn diseases include spinal muscular atrophy, poliomyelitis and amyotrophic lateral sclerosis.	DOID:4873
MONDO:0003183	obsolete trachea adenoid cystic carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003183		
MONDO:0003184	trachea carcinoma	biolink:Disease	mondo	NCIT:C9347|UMLS:C1744708|EFO:1000599|DOID:4876		Ca trachea|trachea cancer|cancer of trachea|Pancoast's tumor|carcinoma of the trachea|cancer of the trachea|carcinoma of trachea|trachea carcinoma|tracheal carcinoma	http://purl.obolibrary.org/obo/MONDO_0003184	A carcinoma that arises from epithelial cells of the trachea.	DOID:4876|UMLS:C1744708|NCIT:C9347
MONDO:0003185	adenoid cystic breast carcinoma	biolink:Disease	mondo	UMLS:C1332167|ONCOTREE:ACBC|NCIT:C5130|EFO:1000071|DOID:4877		adenoid cystic breast cancer|breast adenoid cystic carcinoma|adenocystic carcinoma of breast|adenoid cystic carcinoma of breast|adenocystic carcinoma of the breast|mammary adenocystic carcinoma|adenocystic breast carcinoma|adenoid cystic carcinoma of the breast|adenoid cystic breast carcinoma|mammary adenoid cystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0003185	An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent.	DOID:4877|NCIT:C5130|UMLS:C1332167
MONDO:0042705	prostatic malacoplakia associated with prostatic abscess	biolink:Disease	mondo	UMLS:C2931457|MESH:C537244|GARD:0000149	gard_rare	prostatic malacoplakia with prostatic and seminal vesicle abscess	http://purl.obolibrary.org/obo/MONDO_0042705		UMLS:C2931457|MESH:C537244
MONDO:0003180	cutaneous adenocystic carcinoma	biolink:Disease	mondo	DOID:4871|SCTID:254711000|UMLS:C0346017|NCIT:C4471		skin of body adenoid cystic carcinoma|adenoid cystic eccrine carcinoma of skin|primary cutaneous adenocystic carcinoma|adenoid cystic eccrine carcinoma (morphologic abnormality)|adenoid cystic skin carcinoma|adenoid cystic cutaneous carcinoma|adenoid cystic carcinoma of skin|adenoid cystic eccrine carcinoma|adenoid cystic carcinoma of the skin	http://purl.obolibrary.org/obo/MONDO_0003180	A adenoid cystic carcinoma that involves the skin of body.	DOID:4871|SNOMEDCT:254711000|UMLS:C0346017|NCIT:C4471
OIO:SynonymTypeProperty	synonym_type_property	biolink:OntologyClass	mondo				http://www.geneontology.org/formats/oboInOwl#SynonymTypeProperty		
MONDO:0003181	lung adenoid cystic carcinoma	biolink:Disease	mondo	DOID:4872|NCIT:C5666|ICD9:162.9|UMLS:C1334439|ONCOTREE:LUACC|SCTID:707466008		pulmonary adenocystic carcinoma|lung adenocystic carcinoma|lung adenoid cystic cancer|adenocystic carcinoma of lung|adenocystic carcinoma of the lung|adenoid cystic carcinoma of the lung|pulmonary adenoid cystic carcinoma|LUACC|adenoid cystic carcinoma of lung|lung adenoid cystic carcinoma	http://purl.obolibrary.org/obo/MONDO_0003181	A rare usually indolent lung carcinoma characterized by a cribiform and tubular pattern and the presence of glandular epithelial cells. Clinical symptoms include shortness of breath, cough, wheeze, hemopytsis and chest pain.	DOID:4872|NCIT:C5666|UMLS:C1334439|SNOMEDCT:707466008
HGNC:17866	HAVCR1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17866		
HGNC:17869	AFF4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17869		
MONDO:0015175	autoimmune pancreatitis	biolink:Disease	mondo	SCTID:448542008|ICD10:K86.1|GARD:0010911|Orphanet:103919|UMLS:C2609129|DOID:0040091|MedDRA:10069002	ordo_disease	lymphoplasmocytic sclerosing pancreatitis|AIP	http://purl.obolibrary.org/obo/MONDO_0015175	Autoimmune pancreatitis (AIP) is a rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type 1 AIP which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 AIP which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels.	MEDDRA:10069002|UMLS:C2609129|ORPHA:103919|SNOMEDCT:448542008|DOID:0040091
MONDO:0015174	autoimmune enteropathy type 3	biolink:Disease	mondo	Orphanet:103917|UMLS:CN226617|ICD10:K52.8	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015174		ORPHA:103917|UMLS:CN226617
MONDO:0015173	obsolete autoimmune enteropathy type 2	biolink:Disease	mondo	Orphanet:103916|UMLS:CN226616|ICD10:K52.8	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015173		ORPHA:103916|UMLS:CN226616
MONDO:0015172	obsolete epithelio-exfoliative colitis-deafness syndrome	biolink:Disease	mondo	UMLS:CN226615|Orphanet:103912|ICD10:P78.3			http://purl.obolibrary.org/obo/MONDO_0015172	This syndrome is characterised by the association of severe congenital colitis with sensorineural deafness.	ORPHA:103912|UMLS:CN226615
MONDO:0015179	intestinal disease due to vitamin absorption anomaly	biolink:Disease	mondo	Orphanet:104004|UMLS:CN197521	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015179		ORPHA:104004|UMLS:CN197521
MONDO:0015178	congenital intestinal transport defect	biolink:Disease	mondo	Orphanet:104003	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015178		ORPHA:104003
MONDO:0015177	metaphyseal anadysplasia	biolink:Disease	mondo	SCTID:254085009|MESH:C537351|GARD:0003562|Orphanet:1040|UMLS:C0432226|ICD10:Q78.5|ICD9:756.9	ordo_disease|gard_rare	regressive metaphyseal dysplasia|Maroteaux Verloes Stanescu syndrome|MAD|early-onset regressive form of metaphyseal dysplasia|Maroteaux-Verloes-Stanescu syndrome	http://purl.obolibrary.org/obo/MONDO_0015177	Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed.	UMLS:C0432226|SNOMEDCT:254085009|ORPHA:1040|MESH:C537351
HGNC:17861	TRAF3IP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17861		
MONDO:0015176	undetermined colitis	biolink:Disease	mondo	ICD10:K52.3|Orphanet:103920	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0015176	Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles CrohnBs disease and ulcerative colitis but that cannot be diagnosed as one of them after examination of an intestinal resection specimen.	ORPHA:103920
MONDO:0015160	multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome	biolink:Disease	mondo	Orphanet:102284	ordo_group_of_disorders	MCA/variable MR|multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0015160		ORPHA:102284
MONDO:0003197	granular cell carcinoma	biolink:Disease	mondo	ICDO:8320/3|UMLS:C0205644|DOID:4903|NCIT:C3681		granular cell carcinoma|granular cell adenocarcinoma|granular cell carcinoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003197	An adenocarcinoma characterized by the presence of malignant epithelial cells with granular cytoplasm.	DOID:4903|UMLS:C0205644|NCIT:C3681
HGNC:29853	HECW2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29853		
MONDO:0003198	small intestine adenocarcinoma	biolink:Disease	mondo	UMLS:C0278803|DOID:4906|Orphanet:104075|GARD:0013090|SCTID:424440001|NCIT:C7888|EFO:1000532|ICD10:D01.4	ordo_disease	small intestine adenocarcinoma|adenocarcinoma - small intest.|adenocarcinoma of the small instestine|small bowel adenocarcinoma|adenocarcinoma of small bowel|adenocarcinoma of the small bowel|adenocarcinoma of small intestine|small intestinal adenocarcinoma|adenocarcinoma of small instestine|adenocarcinoma of the small intestine	http://purl.obolibrary.org/obo/MONDO_0003198	An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma.	ORPHA:104075|UMLS:C0278803|DOID:4906|NCIT:C7888|SNOMEDCT:424440001
MONDO:0003199	anal carcinoma	biolink:Disease	mondo	DOID:4908|SCTID:448315008|NCIT:C9291|UMLS:C0279637		anal cancer|anal carcinoma|anus carcinoma|Ca anus|cancer of anus|cancer of the anus|carcinoma of the anus|anal cancer, NOS|carcinoma of anus	http://purl.obolibrary.org/obo/MONDO_0003199	A carcinoma that arises from epithelial cells of the anus	DOID:4908|SNOMEDCT:448315008|NCIT:C9291|UMLS:C0279637
MONDO:0003193	bile duct adenocarcinoma	biolink:Disease	mondo	NCIT:C27813|UMLS:C1370800|DOID:4896		bile duct adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003193	A carcinoma that arises from glandular epithelial cells of the bile duct	DOID:4896|NCIT:C27813|UMLS:C1370800
MONDO:0003194	hemangioma of lung	biolink:Disease	mondo	DOID:490		pulmonary hemangioma|lung hemangioma	http://purl.obolibrary.org/obo/MONDO_0003194	A hemangioma that involves the lung.	DOID:490
MONDO:0003195	peritoneal serous adenocarcinoma	biolink:Disease	mondo	DOID:4901		peritoneum serous adenocarcinoma|primary peritoneal serous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003195	A rare, serous adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous adenocarcinoma that arises from the ovary.	DOID:4901
HGNC:30829	TUBB2B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30829		
MONDO:0003196	appendix carcinoma	biolink:Disease	mondo	SCTID:448992002|DOID:4902|NCIT:C9330|UMLS:C0728951		appendix carcinoma|carcinoma of vermiform appendix|appendix cancer|vermiform appendix carcinoma|carcinoma of appendix|Ca appendix|carcinoma of the appendix	http://purl.obolibrary.org/obo/MONDO_0003196	A carcinoma that arises from epithelial cells of the vermiform appendix	DOID:4902|UMLS:C0728951|SNOMEDCT:448992002|NCIT:C9330
MONDO:0003190	middle ear carcinoma	biolink:Disease	mondo	DOID:4893|NCIT:C6089|UMLS:C1334760		carcinoma of the middle ear|carcinoma of middle ear|middle Ear carcinoma|carcinoma of middle Ear|carcinoma of the middle Ear|middle ear carcinoma	http://purl.obolibrary.org/obo/MONDO_0003190	A carcinoma that arises from epithelial cells of the middle ear	UMLS:C1334760|DOID:4893|NCIT:C6089
MONDO:0003191	rete ovarii adenocarcinoma	biolink:Disease	mondo	UMLS:C3840223|DOID:4894|NCIT:C40017		rete ovarii adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0003191	An exceptionally rare adenocarcinoma that arises from the rete ovarii.	UMLS:C3840223|NCIT:C40017|DOID:4894
MONDO:0015169	chronic diarrhea due to glucoamylase deficiency	biolink:Disease	mondo	ICD10:E74.3|SCTID:716277000|Orphanet:103907|UMLS:C4275068	ordo_disease	maltase glucoamylase deficiency|maltase-glucoamylase deficiency|chronic diarrhea due to glucoamylase deficiency	http://purl.obolibrary.org/obo/MONDO_0015169	This syndrome is characterised by chronic diarrhoea in infancy or childhood in association with intestinal glucoamylase deficiency.	ORPHA:103907|UMLS:C4275068|SNOMEDCT:716277000
MONDO:0042717	Saul-Wilkes-Stevenson syndrome	biolink:Disease	mondo	GARD:0000161|MESH:C536617|UMLS:C2931266	gard_rare	Saul Wilkes Stevenson syndrome	http://purl.obolibrary.org/obo/MONDO_0042717		UMLS:C2931266|MESH:C536617
MONDO:0003192	rete ovarii neoplasm	biolink:Disease	mondo	UMLS:C1514909|NCIT:C40016|DOID:4895		rete ovarii neoplasm (disease)|neoplasm of rete ovarii|rete ovarii tumor|tumor of rete ovarii	http://purl.obolibrary.org/obo/MONDO_0003192	A benign or malignant neoplasm that arises from the rete ovarii which is located in the ovarian hilus. It includes adenoma, cystadenoma, cystadenofibroma, and adenocarcinoma.	NCIT:C40016|UMLS:C1514909|DOID:4895
HGNC:17877	NMNAT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17877		
MONDO:0015164	acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent	biolink:Disease	mondo	Orphanet:102379|ICD10:C92.8|UMLS:CN197504	ordo_disease	AML and myelodysplastic syndromes related to alkylating agent	http://purl.obolibrary.org/obo/MONDO_0015164	Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent is a subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain).	ORPHA:102379|UMLS:CN197504
MONDO:0015163	primary glomerular disease	biolink:Disease	mondo	UMLS:CN197503|Orphanet:102373	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015163		ORPHA:102373|UMLS:CN197503
HGNC:30831	TDRD7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30831		
MONDO:0015162	obsolete rare syndromic intellectual disability	biolink:Disease	mondo	UMLS:CN226611|Orphanet:102369	ordo_group_of_disorders|obsoletion_candidate	rare syndromic intellectual disability	http://purl.obolibrary.org/obo/MONDO_0015162	Rare syndromic intellectual disability.	ORPHA:102369|UMLS:CN226611
MONDO:0015161	multiple congenital anomalies/dysmorphic syndrome without intellectual disability	biolink:Disease	mondo	Orphanet:102285	ordo_group_of_disorders	multiple congenital anomalies without intellectual disability with or without dysmorphism|MCA without intellectual disability	http://purl.obolibrary.org/obo/MONDO_0015161		ORPHA:102285
MONDO:0015168	arthrogryposis multiplex congenita	biolink:Disease	mondo	ICD10:Q74.3|Orphanet:1037|MedDRA:10051643|OMIMPS:617468|GARD:0000777	ordo_group_of_disorders|clingen	Guerin-Stern syndrome|congenital amyoplasia|myodysplasia|amyoplasia congenita|rocher-Sheldon syndrome|fibrous ankylosis of multiple joints|congenital arthromyodysplasia|multiple congenital arthrogryposis|Rossi syndrome|AMC|Arthromyodysplasia congenita|Guérin-Stern syndrome|Otto syndrome|myodystrophia fetalis deformans	http://purl.obolibrary.org/obo/MONDO_0015168	Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures.	ORPHA:1037|MEDDRA:10051643|MESH:C536613|UMLS:C2931264
HGNC:17870	INVS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17870		
MONDO:0015167	amniotic band syndrome	biolink:Disease	mondo	ICD10:Q79.8|SCTID:440214006|Orphanet:1034|GARD:0000429|MESH:D000652|NCIT:C84552	ordo_group_of_disorders	amniotic band constriction|deformity due to amniotic band|congenital constricting bands|Adam syndrome|amniotic deformity-adhesion-mutilation syndrome|amniotic bands sequence|familial amniotic bands|amniotic bands	http://purl.obolibrary.org/obo/MONDO_0015167	Amniotic band syndrome (ABS) describes a group of sporadic congenital anomalies, that occur in association with amniotic bands, involving the limbs, craniofacial regions, spine and trunk with a highly variable clinical spectrum ranging from simple digital band constriction (or amputation) to complex craniofacial, central nervous system and visceral anomalies.	ORPHA:1034|MESH:D000652|NCIT:C84552|SNOMEDCT:440214006|UMLS:C1527388
MONDO:0015166	acute myeloid leukemia with t(8;21)(q22;q22) translocation	biolink:Disease	mondo	ICD10:C92.0|Orphanet:102724	ordo_disease	AML with t(8;21)(q22;q22) translocation	http://purl.obolibrary.org/obo/MONDO_0015166		ORPHA:102724
MONDO:0015165	acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor	biolink:Disease	mondo	UMLS:CN197505|Orphanet:102381|ICD10:C92.0	ordo_disease	AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor	http://purl.obolibrary.org/obo/MONDO_0015165	Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement.	ORPHA:102381|UMLS:CN197505
MONDO:0003168	cerebellar pilocytic astrocytoma	biolink:Disease	mondo	NCIT:C6809|DOID:4853|SCTID:277507004|UMLS:C0349620		cerebellum pilocytic astrocytoma|pilocytic astrocytoma of cerebellum|pilocytic astrocytoma of the cerebellum|cerebellar pilocytic astrocytoma	http://purl.obolibrary.org/obo/MONDO_0003168	A WHO Grade 1 astrocytoma which arises in the cerebellum. The tumor is composed of spindle shaped cells with numerous collections of reddish astrocytic fibers called Rosenthal fibers. Over 80% or the cerebellar astrocytomas of childhood are pilocytic. Pilocytic astrocytomas may rarely occur in adults. They are usually treated by surgical resection and in most cases have a favorable prognosis.	DOID:4853|SNOMEDCT:277507004|UMLS:C0349620|NCIT:C6809
MONDO:0003169	diencephalic astrocytomas	biolink:Disease	mondo	DOID:4855|UMLS:C1333284|NCIT:C5128		astrocytoma of the diencephalon|diencephalon astrocytoma (excluding glioblastoma)|diencephalon astrocytoma|astrocytoma (excluding glioblastoma) of diencephalon|diencephalic astrocytoma|astrocytoma of diencephalon	http://purl.obolibrary.org/obo/MONDO_0003169	A astrocytoma that involves the diencephalon.	UMLS:C1333284|DOID:4855|NCIT:C5128
MONDO:0054716	microcephaly 19, primary, autosomal recessive	biolink:Disease	mondo	UMLS:C4540488|OMIM:617800|DOID:0070281		MCPH19|microcephaly 19, PRIMARY, autosomal recessive; MCPH19|primary autosomal recessive microcephaly 19	http://purl.obolibrary.org/obo/MONDO_0054716		DOID:0070281|http://identifiers.org/omim/617800|UMLS:C4540488
MONDO:0003164	cauda equina neoplasm	biolink:Disease	mondo	NCIT:C5479|SCTID:126963001|UMLS:C1263892|DOID:4847		tumor of the Cauda equina|Cauda equina neoplasms|neoplasm of cauda equina|cauda equina neoplasm (disease)|cauda equina tumor|tumor of Cauda equina|tumor of cauda equina|neoplasm of the Cauda equina	http://purl.obolibrary.org/obo/MONDO_0003164	A neoplasm involving a cauda equina.	SNOMEDCT:126963001|DOID:4847|UMLS:C1263892|NCIT:C5479
MONDO:0003165	cerebellar astrocytoma	biolink:Disease	mondo	UMLS:C0740480|NCIT:C9475|DOID:4848		cerebellum astrocytoma (excluding glioblastoma)|astrocytoma of cerebellum|astrocytoma, cerebellar|cerebellar astrocytoma|astrocytoma of the cerebellum|cerebellum astrocytoma|astrocytoma (excluding glioblastoma) of cerebellum	http://purl.obolibrary.org/obo/MONDO_0003165	Benign and malignant neoplasms of the cerebellum that arise from astrocytes. During childhood the majority are benign pilocytic astrocytomas. In adults both benign and relatively higher grade forms may occur. The most common presenting symptoms are headache, nausea, vomiting, ataxia of gait or limb, paresis, diplopia, and dizziness. Objective signs include weakness, long tract signs, dysmetria, gait ataxia, papilledema, and nystagmus. Surgical resection is often curative.	NCIT:C9475|UMLS:C0740480|DOID:4848
MONDO:0003166	obsolete pilocytic astrocytoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003166		
MONDO:0003167	obsolete pleomorphic xanthoastrocytoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003167		
MONDO:0003160	obsolete sebaceous carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003160	An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize.	
MONDO:0003161	obsolete benign ependymoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003161		
MONDO:0003162	obsolete pilomyxoid astrocytoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003162		
MONDO:0003163	cauda equina intradural extramedullary astrocytoma	biolink:Disease	mondo	UMLS:C1334254|NCIT:C5408|DOID:4846		intradural extramedullary astrocytic tumor of the Cauda equina|intradural extramedullary astrocytoma of Cauda equina|intradural extramedullary astrocytoma of the Cauda equina|intradural extramedullary Cauda equina astrocytoma	http://purl.obolibrary.org/obo/MONDO_0003163		DOID:4846|NCIT:C5408|UMLS:C1334254
MONDO:0042726	macrogyria, pseudobulbar palsy and mental retardation	biolink:Disease	mondo	UMLS:C2931598|MESH:C537722|GARD:0000174	gard_rare	Kuzniecky Andermann syndrome	http://purl.obolibrary.org/obo/MONDO_0042726		MESH:C537722|UMLS:C2931598
MONDO:0042727	sacrococcygeal teratoma	biolink:Disease	mondo	GARD:0000319|HP:0030736|UMLS:C0559459|SCTID:281561000|Orphanet:494421|NCIT:C99055	gard_rare	pre-sacral teratoma|sacrococcygeal teratoma|presacral teratoma	http://purl.obolibrary.org/obo/MONDO_0042727	A teratoma that is found at the base of the coccyx. It is the most commonly seen tumor in newborns.	SNOMEDCT:281561000|ORPHA:494421|NCIT:C99055|UMLS:C0559459
MONDO:0015159	multiple congenital anomalies/dysmorphic syndrome-intellectual disability	biolink:Disease	mondo	UMLS:CN228396|Orphanet:102283	ordo_group_of_disorders	MCA/MR|multiple congenital anomalies-intellectual disability with or without dysmorphism	http://purl.obolibrary.org/obo/MONDO_0015159		ORPHA:102283|UMLS:CN228396
MONDO:0015158	unexplained periodic fever syndrome	biolink:Disease	mondo	UMLS:CN197498|Orphanet:102237|ICD10:E85.0	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015158		ORPHA:102237|UMLS:CN197498
SO:0001508	alteration_attribute	biolink:SequenceFeature	mondo			alteration attribute	http://purl.obolibrary.org/obo/SO_0001508	An attribute of alteration of one or more chromosomes.	
SO:0001507	variant_collection	biolink:SequenceFeature	mondo			variant collection	http://purl.obolibrary.org/obo/SO_0001507	A collection of one or more sequences of an individual.	
MONDO:0042724	macrocephaly, mental retardation, short stature, spastic paraplegia and cns malformations	biolink:Disease	mondo	GARD:0000172	gard_rare	Volcke Soekarman syndrome	http://purl.obolibrary.org/obo/MONDO_0042724		
SO:0001509	chromosomal_variation_attribute	biolink:SequenceFeature	mondo			chromosomal variation attribute	http://purl.obolibrary.org/obo/SO_0001509	An attribute of a change in the structure or number of a chromosomes.	
MONDO:0015153	autosomal monosomy	biolink:Disease	mondo	ICD10:Q93.2|ICD10:Q93.1|ICD10:Q93.0|ICD10:Q93.9|ICD10:Q93.8|Orphanet:102020|ICD10:Q93.7|ICD10:Q93.6|ICD10:Q93.5|ICD10:Q93.4|ICD10:Q93.3	ordo_group_of_disorders	autosomal deletion	http://purl.obolibrary.org/obo/MONDO_0015153		ORPHA:102020
MONDO:0015152	autosomal recessive limb-girdle muscular dystrophy	biolink:Disease	mondo	UMLS:C2931907|OMIMPS:253600|ICD10:G71.0|MESH:C538640|Orphanet:102015|DOID:0110274	ordo_group_of_disorders	limb-girdle muscular dystrophy, autosomal recessive|muscular dystrophy, limb-girdle, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0015152	Autosomal recessive form of limb-girdle muscular dystrophy.	MESH:C538640|DOID:0110274|ORPHA:102015|UMLS:C2931907
MONDO:0015151	autosomal dominant limb-girdle muscular dystrophy	biolink:Disease	mondo	ICD10:G71.0|OMIMPS:159000|OMIMPS:603511|UMLS:CN043626|UMLS:CN228919|Orphanet:102014|DOID:0110273	ordo_group_of_disorders	muscular dystrophy, limb-girdle, autosomal dominant|limb-girdle muscular dystrophy, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0015151	Autosomal dominant form of limb-girdle muscular dystrophy.	UMLS:CN043626|DOID:0110273|ORPHA:102014|UMLS:CN228919
ECTO:0000496	alkylating agent exposure	biolink:OntologyClass	mondo			exposure to alkylating agent	http://purl.obolibrary.org/obo/ECTO_0000496	An exposure to alkylating agent.	
SO:0001506	variant_genome	biolink:SequenceFeature	mondo			variant genome	http://purl.obolibrary.org/obo/SO_0001506	A collection of sequences (often chromosomes) of an individual.	
MONDO:0015150	complex hereditary spastic paraplegia	biolink:Disease	mondo	ICD10:G11.4|UMLS:CN197491|Orphanet:102013|UMLS:C0393556|SCTID:230261006	ordo_group_of_disorders	complicated familial spastic paraplegia|complicated HSP|syndrome associated with hereditary spastic paraplegia|Complex SPG|syndromic hereditary spastic paraplegia|Complex familial spastic paraplegia|complicated hereditary spastic paraplegia|syndrome associated with hereditary spastic paraplegia|Complex HSP|complicated SPG	http://purl.obolibrary.org/obo/MONDO_0015150	A hereditary spastic paraplegia that is part of a larger syndrome.	SNOMEDCT:230261006|ORPHA:102013|UMLS:CN197491|UMLS:C0393556
MONDO:0015157	human herpesvirus 8-related tumor	biolink:Disease	mondo	UMLS:CN226610|Orphanet:102024	ordo_group_of_disorders	HHV-8-related disorder	http://purl.obolibrary.org/obo/MONDO_0015157		UMLS:CN226610|ORPHA:102024
SO:0001500	heritable_phenotypic_marker	biolink:SequenceFeature	mondo			phenotypic marker|heritable phenotypic marker	http://purl.obolibrary.org/obo/SO_0001500	A biological_region characterized as a single heritable trait in a phenotype screen. The heritable phenotype may be mapped to a chromosome but generally has not been characterized to a specific gene locus.	
MONDO:0015156	obsolete typhus-group rickettsiosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015156		
MONDO:0015155	obsolete spotted fever rickettsiosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015155		
MONDO:0015154	obsolete rickettsial disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015154		
MONDO:0054701	Kleefstra syndrome 2	biolink:Disease	mondo	DOID:0080598|OMIM:617768		Kleefstra syndrome 2; KLEFS2|KLEFS2	http://purl.obolibrary.org/obo/MONDO_0054701		DOID:0080598|http://identifiers.org/omim/617768
MONDO:0054700	proteasome-associated autoinflammatory syndrome 2	biolink:Disease	mondo	UMLS:CN252342|OMIM:618048		PRAAS2|proteasome-associated autoinflammatory syndrome 2; PRAAS2	http://purl.obolibrary.org/obo/MONDO_0054700		http://identifiers.org/omim/618048|UMLS:CN252342
MONDO:0003179	obsolete lacrimal gland adenoid cystic carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003179		
NCBITaxon:10566	Human papillomavirus	organism taxon	mondo	GC_ID:1		human papillomavirus HPV|Human Papilloma Virus	http://purl.obolibrary.org/obo/NCBITaxon_10566		
HGNC:30802	PNPLA2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30802		
HGNC:30800	TMIE	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30800		
MONDO:0003175	salivary gland adenoid cystic carcinoma	biolink:Disease	mondo	DOID:4866|GARD:0012346|NCIT:C8026|UMLS:C0279751|SCTID:422833009		cylindroma|salivary gland adenoid cystic carcinoma|adenoid cystic carcinoma (morphologic abnormality)|cylindroma NOS|salivary gland adenoid cystic cancer|adenoid cystic carcinoma|saliva-secreting gland adenoid cystic carcinoma|cylindroma (morphologic abnormality)|adenoid cystic carcinoma of salivary gland|adenoid cystic cancer|adenoid cystic carcinoma of the salivary gland	http://purl.obolibrary.org/obo/MONDO_0003175	An adenoid cystic carcinoma arising from the salivary gland. It is characterized by the presence of epithelial and myoepithelial cells forming tubular, cribriform, and solid patterns. It usually presents as a slow growing mass. Patients may experience pain because of the tumor propensity for perineural invasion. The tumor may follow an aggressive clinical course with recurrences and mestastases to distant sites including lungs, bones, brain, and liver.	UMLS:C0279751|NCIT:C8026|DOID:4866|SNOMEDCT:422833009
MONDO:0003176	obsolete cervical adenoid cystic carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003176		
MONDO:0003177	prostate adenoid cystic carcinoma	biolink:Disease	mondo	UMLS:C1335502|NCIT:C5539|DOID:4868		prostate adenoid cystic carcinoma|prostate gland adenoid cystic carcinoma|adenoid cystic carcinoma of prostate|adenoid cystic carcinoma of the prostate	http://purl.obolibrary.org/obo/MONDO_0003177	An adenoid cystic carcinoma that arises from the prostate gland.	DOID:4868|NCIT:C5539|UMLS:C1335502
MONDO:0054708	retinitis pigmentosa 80	biolink:Disease	mondo	OMIM:617781		RP80|RETINITIS pigmentosa 80; RP80	http://purl.obolibrary.org/obo/MONDO_0054708		http://identifiers.org/omim/617781
MONDO:0003178	obsolete laryngeal adenoid cystic carcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003178		
MONDO:0003171	pineal gland astrocytoma	biolink:Disease	mondo	UMLS:C0280795|DOID:4858|NCIT:C8274		astrocytoma (excluding glioblastoma) of pineal body|pineal body astrocytoma|astrocytoma of pineal gland|pineal body astrocytoma (excluding glioblastoma)|astrocytoma of the pineal gland|pineal astrocytic tumor|pineal astrocytoma	http://purl.obolibrary.org/obo/MONDO_0003171	A astrocytoma that involves the pineal body.	NCIT:C8274|DOID:4858|UMLS:C0280795
MONDO:0003172	glomeruloid hemangioma	biolink:Disease	mondo	UMLS:C1304511|DOID:486|NCIT:C27505|SCTID:403976007			http://purl.obolibrary.org/obo/MONDO_0003172		DOID:486|SNOMEDCT:403976007|NCIT:C27505|UMLS:C1304511
MONDO:0003173	brain stem astrocytic neoplasm	biolink:Disease	mondo	DOID:4860|UMLS:C1332608|SCTID:107581000119103|NCIT:C7445		brainstem astrocytoma|astrocytoma (excluding glioblastoma) of brainstem|brainstem astrocytoma (excluding glioblastoma)|brain stem astrocytoma	http://purl.obolibrary.org/obo/MONDO_0003173	An astrocytoma that arises from the brain stem.	UMLS:C1332608|DOID:4860|NCIT:C7445|SNOMEDCT:107581000119103
MONDO:0003174	spinal cord astrocytoma	biolink:Disease	mondo	DOID:4863|SCTID:254948003|NCIT:C4641|UMLS:C0349540|EFO:1000544		spinal cord astrocytoma (excluding glioblastoma)|astrocytoma of the spinal cord|astrocytoma of spinal cord|astrocytoma (excluding glioblastoma) of spinal cord|spinal astrocytoma|spinal cord astrocytoma	http://purl.obolibrary.org/obo/MONDO_0003174	A low or high grade astrocytoma that arises in the spinal cord.	SNOMEDCT:254948003|DOID:4863|UMLS:C0349540|NCIT:C4641
MONDO:0015149	pure hereditary spastic paraplegia	biolink:Disease	mondo	ICD10:G11.4|UMLS:C0393555|Orphanet:102012|SCTID:230260007	ordo_group_of_disorders	uncomplicated HSP|Pure SPG|Pure familial spastic paraplegia|uncomplicated hereditary spastic paraplegia|Pure HSP|uncomplicated SPG|uncomplicated familial spastic paraplegia	http://purl.obolibrary.org/obo/MONDO_0015149		UMLS:C0393555|SNOMEDCT:230260007|ORPHA:102012
MONDO:0015148	lissencephaly type 3	biolink:Disease	mondo	Orphanet:102011|ICD10:Q04.3	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015148		ORPHA:102011
MONDO:0003170	gliofibroma	biolink:Disease	mondo	UMLS:C1266178|NCIT:C5419|DOID:4856|ICDO:9442/1		gliofibroma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003170	An astrocytic tumor affecting young people. Morphologically, it is characterized by the presence of collagenous tissue surrounding neoplastic astrocytes. In some cases the collagen is produced by the tumor cells (desmoplastic astrocytoma), whereas in others it is produced by mesenchymal cells (mixed glioma/fibroma).	DOID:4856|NCIT:C5419|UMLS:C1266178
MONDO:0015147	other syndrome with lissencephaly as a major feature	biolink:Disease	mondo	UMLS:CN197489|ICD10:Q04.3|Orphanet:102010	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015147		ORPHA:102010|UMLS:CN197489
MONDO:0015142	obsolete ataxia syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015142		
MONDO:0015141	disorder of medulla oblongata	biolink:Disease	mondo	UMLS:CN197487|Orphanet:102000	ordo_group_of_disorders	medullar disease|medulla oblongata disease|medulla oblongata disease or disorder|disorder of medulla oblongata|disease of medulla oblongata|disease or disorder of medulla oblongata	http://purl.obolibrary.org/obo/MONDO_0015141	A disease that involves the medulla oblongata.	ORPHA:102000|UMLS:CN197487
MONDO:0015140	early-onset autosomal dominant Alzheimer disease	biolink:Disease	mondo	UMLS:CN043596|ICD10:G30.0|Orphanet:1020|GARD:0012798	ordo_disease|clingen|gard_rare	early-onset, autosomal dominant Alzheimer disease|EOFAD|early-onset familial autosomal dominant Alzheimer disease	http://purl.obolibrary.org/obo/MONDO_0015140	Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.	ORPHA:1020|UMLS:CN043596
MONDO:0015146	classic lissencephaly	biolink:Disease	mondo	Orphanet:102009|GARD:0005049|ICD10:Q04.3	ordo_group_of_disorders	lissencephaly type 1|lissencephaly sequence isolated|lissencephaly classic|ILS	http://purl.obolibrary.org/obo/MONDO_0015146		UMLS:C1843916|ORPHA:102009|UMLS:C0431375
MONDO:0015145	neurovascular malformation	biolink:Disease	mondo	Orphanet:102006	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0015145		ORPHA:102006
MONDO:0015144	brain inflammatory disease	biolink:Disease	mondo	UMLS:CN197488|Orphanet:102005	ordo_group_of_disorders	inflammation of brain|brain inflammation	http://purl.obolibrary.org/obo/MONDO_0015144	An inflammatory disease involving a pathogenic inflammatory response in the brain.	ORPHA:102005|UMLS:CN197488
MONDO:0015143	obsolete rare movement disorder	biolink:Disease	mondo	Orphanet:102003	ordo_group_of_disorders|obsoletion_candidate	rare movement disorder	http://purl.obolibrary.org/obo/MONDO_0015143	Rare movement disorder.	ORPHA:102003
MONDO:0005725	cyclosporiasis	biolink:Disease	mondo	ICD10:A07.4|DOID:12750|MESH:D021866|SCTID:240372001|UMLS:C0343398|GARD:0009528|NCIT:C128409|ICD9:007.5|EFO:0007230		Cyclospora infectious disease|Cyclospora caused disease or disorder|Cyclospora infection|Cyclospora disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005725	A protozoan infection that is caused by Cyclospora cayetanensis, which is most commonly acquired from contaminated food or water, and which is characterized by watery diarrhea and abdominal pain.	SNOMEDCT:240372001|UMLS:C0343398|NCIT:C128409|DOID:12750|MESH:D021866
MONDO:0005724	cryptococcosis	biolink:Disease	mondo	ICD10:B45|ICD10:B45.3|NCIT:C2967|MESH:D003453|ICD10:B45.2|Orphanet:1546|ICD10:B45.1|SCTID:42386007|ICD10:B45.0|ICD9:117.5|EFO:0007229|GARD:0006218|UMLS:C0010414|COHD:440035|MedDRA:10011490|ICD10:B45.8|ICD10:B45.9|DOID:12053|ICD10:B45.7	ordo_disease|gard_rare	Cryptococcus neoformans caused disease or disorder|Busse-Buschke's disease|Cryptococcal infection|torulosis|torula|European cryptococcosis|Cryptococcus neoformans disease or disorder|cryptococcus neoformans infection|Cryptococcus neoformans infectious disease	http://purl.obolibrary.org/obo/MONDO_0005724	An acute or chronic, localized or disseminated infection by Cryptococcus neoformans. Sites of involvement include the lungs, central nervous system and meninges, skin, and visceral organs.--2004	MEDDRA:10011490|NCIT:C2967|ORPHA:1546|SNOMEDCT:42386007|DOID:12053|UMLS:C0010414|MESH:D003453
MONDO:0005727	obsolete cystoisosporiasis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005727		
MONDO:0005726	obsolete cysticercosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005726		
MONDO:0005721	coxsackievirus infectious disease	biolink:Disease	mondo	MESH:D003384|EFO:0007226|UMLS:C0010246			http://purl.obolibrary.org/obo/MONDO_0005721	A heterogeneous group of infections produced by coxsackieviruses, including herpangina, aseptic meningitis (meningitis, aseptic), a common-cold-like syndrome, a non-paralytic poliomyelitis-like syndrome, epidemic pleurodynia (pleurodynia, epidemic) and a serious myocarditis.	UMLS:C0010246|MESH:D003384
MONDO:0005720	cowpox	biolink:Disease	mondo	DOID:8956|SCTID:70090004|EFO:0007225|ICD10:B08.010|UMLS:C0010232|MESH:D015605|ICD9:051.01		yaba	http://purl.obolibrary.org/obo/MONDO_0005720	A mild, eruptive skin disease of milk cows caused by cowpox virus, with lesions occurring principally on the udder and teats. Human infection may occur while milking an infected animal.	UMLS:C0010232|SNOMEDCT:70090004|DOID:8956|MESH:D015605
MONDO:0005723	Cryptococcal meningitis	biolink:Disease	mondo	DOID:0080159|EFO:0007228|MESH:D016919|SCTID:14232007|COHD:432310|ICD9:321.0		Cryptococcus neoformans caused infectious meningitis|Cryptococcus neoformans infectious meningitis	http://purl.obolibrary.org/obo/MONDO_0005723	Meningeal inflammation produced by cryptococcus neoformans, an encapsulated yeast that tends to infect individuals with acquired immunodeficiency syndrome and other immunocompromised states. The organism enters the body through the respiratory tract, but symptomatic infections are usually limited to the lungs and nervous system. The organism may also produce parenchymal brain lesions (torulomas). Clinically, the course is subacute and may feature headache; nausea; photophobia; focal neurologic deficits; seizures; cranial neuropathies; and hydrocephalus. (From Adams et al., Principles of Neurology, 6th ed, pp721-2)	DOID:0080159|SNOMEDCT:14232007|MESH:D016919
MONDO:0005722	croup	biolink:Disease	mondo	COHD:260134|SCTID:71186008|NCIT:C26735|UMLS:C0010380|MESH:D003440|EFO:0007227|ICD9:464.4|ICD10:J05.0|DOID:9395		acute obstructive laryngitis|acute laryngotracheitis|croup syndrome|acute laryngotracheobronchitis|acute laryngotracheobronchitis	http://purl.obolibrary.org/obo/MONDO_0005722	Acute upper respiratory airways infection that results in the swelling of the larynx. It is usually caused by parainfluenza viruses. Signs include a characteristic barking cough and stridor.	SNOMEDCT:71186008|UMLS:C0010380|DOID:9395|NCIT:C26735|MESH:D003440
GO:1902931	negative regulation of alcohol biosynthetic process	biolink:OntologyClass	mondo			downregulation of alcohol formation|down-regulation of alcohol anabolism|negative regulation of alcohol anabolism|negative regulation of solventogenesis|down regulation of alcohol anabolism|down-regulation of alcohol synthesis|negative regulation of alcohol synthesis|downregulation of alcohol biosynthesis|downregulation of alcohol biosynthetic process|inhibition of alcohol anabolism|downregulation of alcohol anabolism|down regulation of alcohol synthesis|negative regulation of alcohol formation|down-regulation of alcohol formation|down regulation of alcohol biosynthesis|down regulation of alcohol biosynthetic process|inhibition of alcohol biosynthesis|inhibition of alcohol biosynthetic process|down regulation of alcohol formation|inhibition of alcohol synthesis|downregulation of alcohol synthesis|negative regulation of alcohol biosynthesis|down-regulation of alcohol biosynthetic process|down-regulation of alcohol biosynthesis|inhibition of alcohol formation	http://purl.obolibrary.org/obo/GO_1902931	Any process that stops, prevents or reduces the frequency, rate or extent of alcohol biosynthetic process.	
GO:1902932	positive regulation of alcohol biosynthetic process	biolink:OntologyClass	mondo			up-regulation of alcohol formation|up regulation of alcohol synthesis|positive regulation of solventogenesis|upregulation of alcohol anabolism|positive regulation of alcohol synthesis|positive regulation of alcohol biosynthesis|activation of alcohol synthesis|up regulation of alcohol formation|up regulation of alcohol biosynthetic process|up regulation of alcohol biosynthesis|positive regulation of alcohol formation|activation of alcohol formation|upregulation of alcohol synthesis|up-regulation of alcohol biosynthetic process|up-regulation of alcohol biosynthesis|activation of alcohol biosynthesis|activation of alcohol biosynthetic process|upregulation of alcohol formation|up-regulation of alcohol anabolism|up regulation of alcohol anabolism|up-regulation of alcohol synthesis|positive regulation of alcohol anabolism|upregulation of alcohol biosynthetic process|upregulation of alcohol biosynthesis|activation of alcohol anabolism	http://purl.obolibrary.org/obo/GO_1902932	Any process that activates or increases the frequency, rate or extent of alcohol biosynthetic process.	
GO:1902930	regulation of alcohol biosynthetic process	biolink:OntologyClass	mondo			regulation of alcohol anabolism|regulation of alcohol biosynthesis|regulation of solventogenesis|regulation of alcohol synthesis|regulation of alcohol formation	http://purl.obolibrary.org/obo/GO_1902930	Any process that modulates the frequency, rate or extent of alcohol biosynthetic process.	
MONDO:0017707	obsolete disorder of lipid metabolism	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0017707		
MONDO:0017708	mevalonate kinase deficiency	biolink:Disease	mondo	Orphanet:309025|MedDRA:10072221	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017708		UMLS:C0342731|ORPHA:309025|MEDDRA:10072221
MONDO:0017709	disorder of lipid absorption and transport	biolink:Disease	mondo	Orphanet:309028|UMLS:CN227181	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017709		UMLS:CN227181|ORPHA:309028
MONDO:0017714	acyl-CoA dehydrogenase deficiency	biolink:Disease	mondo	Orphanet:309120|UMLS:C0268635|SCTID:82319005|ICD10:E71.3	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017714		SNOMEDCT:82319005|ORPHA:309120|UMLS:C0268635
CL:0002022	Ly-76 high positive erythrocyte	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002022	An enucleate erythrocyte that is Lyg-76-high.	
MONDO:0017715	3-hydroxyacyl-CoA dehydrogenase deficiency	biolink:Disease	mondo	ICD10:E71.3|OMIM:231530|Orphanet:309127	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017715		http://identifiers.org/omim/231530|ORPHA:309127|UMLS:C1291230
MONDO:0017716	disorder of carnitine cycle and carnitine transport	biolink:Disease	mondo	Orphanet:309130|UMLS:CN227184|ICD10:E71.3	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017716		UMLS:CN227184|ORPHA:309130
CL:0002024	Kit-positive megakaryocyte progenitor cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002024	A megakaryocyte progenitor cell that is Kit-positive, CD41-positive, CD9-positive, Sca-1-negative, IL7ralpha-negative, CD150-negative, and Fcgamma receptor II/III-low.	
MONDO:0017717	metabolic disease due to other fatty acid oxidation disorder	biolink:Disease	mondo	ICD10:E71.3|UMLS:CN203613|Orphanet:309133	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017717		UMLS:CN203613|ORPHA:309133
MONDO:0017710	congenital systemic veins anomaly	biolink:Disease	mondo	Orphanet:3091	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017710		ORPHA:3091
CL:0002027	CD9-positive, CD41-positive megakaryocyte cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002027	A megakaryocyte cell with is CD9-positive and CD41-positive.	
MONDO:0017711	pancreatic colipase deficiency	biolink:Disease	mondo	ICD9:277.89|UMLS:C0268241|ICD10:K90.3|Orphanet:309108|SCTID:69478001	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017711		SNOMEDCT:69478001|ORPHA:309108|UMLS:C0268241
GO:0071407	cellular response to organic cyclic compound	biolink:OntologyClass	mondo			cellular response to organic cyclic substance	http://purl.obolibrary.org/obo/GO_0071407	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic cyclic compound stimulus.	
MONDO:0017712	combined pancreatic lipase-colipase deficiency	biolink:Disease	mondo	Orphanet:309111|ICD10:K90.3	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017712	"Combined pancreatic lipase-colipase deficiency is a disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990.	ORPHA:309111
CL:0002029	Fc-epsilon RIalpha-low mast cell progenitor	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002029	A lineage-negative, Kit-positive, CD45-positive mast cell progenitor that is Fc-epsilon RIalpha-low.	
CL:0002028	basophil mast progenitor cell	biolink:Cell	mondo			BMCP	http://purl.obolibrary.org/obo/CL_0002028	A cell type that can give rise to basophil and mast cells. This cell is CD34-positive, CD117-positive, CD125-positive, FceRIa-negative, and T1/ST2-negative, and expresses Gata-1, Gata-2, C/EBPa	
MONDO:0017713	disorder of fatty acid oxidation and ketogenesis	biolink:Disease	mondo	ICD10:E71.3|Orphanet:309115|UMLS:CN227183	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017713		ORPHA:309115|UMLS:CN227183
HGNC:17820	NT5C3A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17820		
MONDO:0005718	Coronaviridae infectious disease	biolink:Disease	mondo	UMLS:C0010078|EFO:0007223			http://purl.obolibrary.org/obo/MONDO_0005718	Virus diseases caused by coronaviridae.	UMLS:C0010078
MONDO:0005717	contagious pustular dermatitis	biolink:Disease	mondo	MESH:D004474|DOID:8771|ICD9:051.2|ICD10:B08.02|UMLS:C0013570|EFO:0007222|SCTID:74050005		Orf|ecthyma contagiosum|scabby mouth|thistle disease|ecthyma, Contagious|sheep pox	http://purl.obolibrary.org/obo/MONDO_0005717	An infectious dermatitis of sheep and goats, affecting primarily the muzzle and lips. It is caused by a poxvirus and may be transmitted to humans.	MESH:D004474|DOID:8771|SNOMEDCT:74050005|UMLS:C0013570
SO:0001524	chromosomally_aberrant_genome	biolink:SequenceFeature	mondo			chromosomally aberrant genome	http://purl.obolibrary.org/obo/SO_0001524	When a genome contains an abnormal amount of chromosomes.	
CL:0002021	GlyA-positive erythrocyte	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002021	An enucleate erythrocyte that is GlyA-positive.	
CL:0002020	GlyA-positive reticulocytes	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002020	A reticulocyte that is GlyA-positive.	
MONDO:0005719	Coronavinae infectious disease	biolink:Disease	mondo	MESH:D018352|EFO:0007224			http://purl.obolibrary.org/obo/MONDO_0005719	Virus diseases caused by the coronavirus genus. Some specifics include transmissible enteritis of turkeys (enteritis, transmissible, of turkeys); feline infectious peritonitis; and transmissible gastroenteritis of swine (gastroenteritis, transmissible, of swine).	MESH:D018352
MONDO:0005736	eastern equine encephalitis	biolink:Disease	mondo	GARD:0010821|MedDRA:10014587|Orphanet:83594|ICD10:A83.2|DOID:10841|EFO:0007242|ICD9:062.2|MESH:D020242|UMLS:C0153065	gard_rare|ordo_disease	Neuroinvasive Eastern equine encephalitis virus infection|EEE|Eastern equine encephalomyelitis	http://purl.obolibrary.org/obo/MONDO_0005736	Eastern equine encephalitis (EEE) is an acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea, myalgia, leucocytosis, and hematuria, rapidly progressing to diffuse central nervous system (CNS) involvement with confusion, somnolence, or even coma. Seizures, which may progress to status epilepticus and neurologic sequelae, cranial nerve palsies, and photophobia may occur. EEE is associated with a high rate of morbidity and mortality.	ORPHA:83594|UMLS:C0153065|MEDDRA:10014587|MESH:D020242|DOID:10841
MONDO:0005735	obsolete dracunculiasis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005735		
MONDO:0005738	echinococcosis	biolink:Disease	mondo	ICD9:122|ICD9:122.9|MESH:D004443|SCTID:74942003|ICD10:B67.90|ICD10:B67|UMLS:C0013502|DOID:1496|COHD:440043|EFO:0007245|NCIT:C84682		echinococciasis|echinococcosis, unspecified, of liver|Echinococcus disease or disorder|hydatidosis|echinococcus disease|liver echinococcus|echinococcosis of liver|hydatid disease|hepatic echinococcosis|hydatidosis|Echinococcus infectious disease|pulmonary echinococcosis|echinococcosis|Echinococcus caused disease or disorder|hydatid disease|echinococcal disease	http://purl.obolibrary.org/obo/MONDO_0005738	A parasitic infection caused by tapeworm larvae of Echinococcus. It affects livestock and humans. It is characterized by the formation of hydatid cysts mainly in the liver, lungs, spleen, and kidneys. Rupture of the cysts may lead to shock.	SNOMEDCT:74942003|UMLS:C0013502|DOID:1496|MESH:D004443|NCIT:C84682
NCBITaxon:600669	Nakaseomyces/Candida clade	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_600669		
CHEBI:25741	oxide	biolink:ChemicalSubstance	mondo			oxide|oxides	http://purl.obolibrary.org/obo/CHEBI_25741	An oxide is a chemical compound of oxygen with other chemical elements.	
MONDO:0005737	Ebola hemorrhagic fever	biolink:Disease	mondo	NCIT:C36171|UMLS:C0282687|DOID:4325|Orphanet:319218|MedDRA:10014071|EFO:0007243|SCTID:37109004|GARD:0002035|MESH:D019142|ICD10:A98.4	ordo_disease	Ebola virus disease|Ebolavirus infectious disease|Ebolavirus disease or disorder|Ebolavirus caused disease or disorder|EHF|Ebola fever|Ebola	http://purl.obolibrary.org/obo/MONDO_0005737	A viral hemorrhagic fever that is caused by the Ebola virus, which is transmitted by contact with infected animals or humans; it is characterized by high fever, unexplained bleeding, and a high mortality rate.	DOID:4325|UMLS:C0282687|MESH:D019142|MEDDRA:10014071|ORPHA:319218|SNOMEDCT:37109004|NCIT:C36171
MONDO:0005732	obsolete diphyllobothriasis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005732		
HGNC:29812	DCPS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29812		
MONDO:0005731	dipetalonemiasis	biolink:Disease	mondo	GARD:0000004|SCTID:15629006|UMLS:C0012517|NCIT:C34540|EFO:0007237|MESH:D004154|DOID:14422|ICD9:125.4	gard_rare	Mansonella perstans infectious disease|Acanthocheilonema perstans infection|Mansonella perstans caused disease or disorder|Acanthocheilonemiasis|Mansonella perstans disease or disorder|infection by Dipetalonema perstans|Mansonella perstans|infection by Dipetalonema perstans (disorder) [ambiguous]|Dipetalonema infections|infection by Dipetalonema|dipetalonemiasis|Dipetalonema infectious disease|Dipetalonema infection	http://purl.obolibrary.org/obo/MONDO_0005731	A parasitic infection caused by genus of filarial worms called Dipetalonema. It produces microfilariae in the blood and body fluids.	NCIT:C34540|DOID:14422|UMLS:C0012517|MESH:D004154|SNOMEDCT:15629006
MONDO:0005734	dourine	biolink:Disease	mondo	UMLS:C0013076|MESH:D004313|SCTID:15566009|EFO:0007240			http://purl.obolibrary.org/obo/MONDO_0005734	A disease of horses and donkeys caused by Trypanosoma equiperdum. The disease occurs in Africa, the Americas, and Asia.	UMLS:C0013076|MESH:D004313|SNOMEDCT:15566009
MONDO:0005733	obsolete dirofilariasis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005733		
MONDO:0005730	Dictyocaulus infectious disease	biolink:Disease	mondo	MESH:D004022|EFO:0007235|UMLS:C0012118		infection, Dictyocaulus|Dictyocauliasis|infections, Dictyocaulus|Dictyocaulus infection|Dictyocaulus disease or disorder|Dictyocaulus caused disease or disorder|Dictyocauliases	http://purl.obolibrary.org/obo/MONDO_0005730	Infection with nematodes of the genus dictyocaulus. In deer, cattle, sheep, and horses the bronchi are the site of infestation.	UMLS:C0012118|MESH:D004022
MONDO:0017703	disorder of glyoxylate metabolism	biolink:Disease	mondo	Orphanet:308998|UMLS:CN227177	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017703		UMLS:CN227177|ORPHA:308998
CL:0002034	long term hematopoietic stem cell	biolink:Cell	mondo			LT-HSC|LT stem cell	http://purl.obolibrary.org/obo/CL_0002034	A hematopoietic stem cell with long term self renewal capability. This cell is Kit-positive, Sca1-positive, CD150-positive, CD90-low, CD34-negative and Flt3-negative.	
CL:0002033	short term hematopoietic stem cell	biolink:Cell	mondo			ST-HSC|ST stem cell	http://purl.obolibrary.org/obo/CL_0002033	A hematopoietic stem cell capable of rapid replenishment of myeloerythroid progenitors and limited self renewal capability. This cell is Kit-positive, Sca1-positive, CD34-positive, CD150-positive, and is Flt3-negative.	
MONDO:0017704	familial partial epilepsy	biolink:Disease	mondo	ICD10:G40.1|Orphanet:309|UMLS:CN227178|GARD:0002173	ordo_group_of_disorders|gard_rare	hereditary partial epilepsy|epilepsy, partial, familial	http://purl.obolibrary.org/obo/MONDO_0017704	An instance of partial epilepsy that is caused by an inherited modification of the individual's genome.	UMLS:CN227178|ORPHA:309
CL:0002036	Slamf1-positive multipotent progenitor cell	biolink:Cell	mondo			KSL cell	http://purl.obolibrary.org/obo/CL_0002036	A hematopoietic progenitor that has some limited self-renewal capability. Cells are lin-negative, Kit-positive, CD34-positive, and Slamf1-positive.	
MONDO:0017705	congenital pulmonary venous return anomaly	biolink:Disease	mondo	Orphanet:3090|GARD:0004599|ICD10:Q26.4|ICD10:Q26.3|ICD10:Q26.2	gard_rare|ordo_group_of_disorders	TAPVR|anomalous pulmonary venous return|congenital pulmonary venous connection anomaly|APVR|pulmonary venous return anomaly|scimitar anomaly|scimitar syndrome|TAPVR1|total anomalous pulmonary venous return	http://purl.obolibrary.org/obo/MONDO_0017705	Congenital pulmonary venous return anomaly is a cardiac malformation where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC), where all of the pulmonary veins are anomalous.	ORPHA:3090
HGNC:9117	PMP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9117		
CL:0002035	Slamf1-negative multipotent progenitor cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002035	A hematopoietic progenitor that has restricted self-renewal capability. Cell is Kit-positive, Ly6-positive, CD150-negative and Flt3-negative.	
HGNC:9118	PMP22	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9118		
MONDO:0017706	disorder of carbohydrate absorption and transport	biolink:Disease	mondo	UMLS:CN227180|Orphanet:309001	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017706		UMLS:CN227180|ORPHA:309001
MONDO:0017700	glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form	biolink:Disease	mondo	UMLS:C1856305|ICD10:E74.0|Orphanet:308698	ordo_clinical_subtype	glycogen storage disease type IV, childhood neuromuscular form|GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form|glycogen storage disease type 4, childhood neuromuscular form|GSD type 4, childhood neuromuscular form|GSDIV, childhood neuromuscular form|glycogenosis type IV, childhood neuromuscular form|glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form|glycogenosis type 4, childhood neuromuscular form|GBE deficiency, childhood neuromuscular form	http://purl.obolibrary.org/obo/MONDO_0017700		UMLS:C1856305|ORPHA:308698
MONDO:0017701	glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form	biolink:Disease	mondo	UMLS:CN203601|ICD10:E74.0|Orphanet:308712	ordo_clinical_subtype	glycogenosis type 4, adult neuromuscular form|glycogenosis due to glycogen branching enzyme deficiency, adult neuromuscular form|GBE deficiency, adult neuromuscular form|GSD due to glycogen branching enzyme deficiency, adult neuromuscular form|glycogen storage disease type IV, adult neuromuscular form|glycogen storage disease type 4, adult neuromuscular form|GSD type 4, adult neuromuscular form|GSDIV, adult neuromuscular form|glycogenosis type IV, adult neuromuscular form	http://purl.obolibrary.org/obo/MONDO_0017701		ORPHA:308712|UMLS:CN203601
MONDO:0017702	obsolete glycerol kinase deficiency	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0017702		
MONDO:0005729	dicrocoeliasis	biolink:Disease	mondo	DOID:1219|MESH:D004011|SCTID:105668007|UMLS:C0012102|EFO:0007234|ICD10:B66.2|ICD9:121.8|UMLS:C1737210		disease due to Dicrocoeliidae|Dicrocoelium infectious disease|Dicrocoelium caused disease or disorder|Dicrocoelium disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005729	Infection with flukes of the genus Dicrocoelium.	SNOMEDCT:105668007|UMLS:C1737210|UMLS:C0012102|DOID:1219|MESH:D004011
HGNC:9115	PMM2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9115		
CL:0002030	Fc-epsilon RIalpha-high basophil progenitor cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002030	A lineage negative, Sca1-negative basophil progenitor cell that is Fc epsilon RIalpha-high.	
MONDO:0005728	diaphragm disease	biolink:Disease	mondo	DOID:10481|SCTID:48475001|ICD9:519.4|UMLS:C0152097|EFO:0007233|ICD10:J98.6		disease or disorder of diaphragm|diaphragmatic disorder|disease of diaphragm|diaphragm disease or disorder|disorder of diaphragm|diaphragmatic disease|disorder of diaphragm|diaphragm disease	http://purl.obolibrary.org/obo/MONDO_0005728	A disease involving the diaphragm.	SNOMEDCT:48475001|UMLS:C0152097|DOID:10481
SO:0001510	intrachromosomal	biolink:SequenceFeature	mondo				http://purl.obolibrary.org/obo/SO_0001510	A change in chromosomes that occurs between two separate chromosomes.	
CL:0002032	hematopoietic oligopotent progenitor cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002032	A hematopoietic oligopotent progenitor cell that has the ability to differentiate into limited cell types but lacks lineage cell markers and self renewal capabilities.	
CL:0002031	hematopoietic lineage restricted progenitor cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002031	A hematopoietic progenitor cell that is capable of developing into only one lineage of hematopoietic cells.	
MONDO:0030703	autoimmune vasculitis	biolink:Disease	mondo	SCTID:427213005|DOID:0040097|UMLS:C1328843			http://purl.obolibrary.org/obo/MONDO_0030703	An autoimmune form of vasculitis.	DOID:0040097|SNOMEDCT:427213005|UMLS:C1328843
MONDO:0005703	obsolete Churg-Strauss syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005703		
CHEBI:25710	organophosphorus compound	biolink:ChemicalSubstance	mondo			organophosphorus compound|organophosphorus compounds	http://purl.obolibrary.org/obo/CHEBI_25710	An organophosphorus compound is formally a compound containing at least one carbon-phosphorus bond, but the term is often extended to include esters and thioesters.	
MONDO:0030702	autoimmune atherosclerosis	biolink:Disease	mondo	DOID:0040096			http://purl.obolibrary.org/obo/MONDO_0030702	An autoimmune form of atherosclerosis.	DOID:0040096
MONDO:0005702	obsolete chromoblastomycosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005702	A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection.	
MONDO:0005705	clonorchiasis	biolink:Disease	mondo	EFO:0007210|MESH:D003003|ICD10:B66.1|ICD9:121.1|SCTID:11938002|UMLS:C0009021|COHD:194280|DOID:13767		Oriental liver fluke disease	http://purl.obolibrary.org/obo/MONDO_0005705	Infection of the biliary passages with clonorchis sinensis, also called Opisthorchis sinensis. It may lead to inflammation of the biliary tract, proliferation of biliary epithelium, progressive portal fibrosis, and sometimes bile duct carcinoma. Extension to the liver may lead to fatty changes and cirrhosis. (From Dorland, 27th ed)	MESH:D003003|SNOMEDCT:11938002|UMLS:C0009021|DOID:13767
MONDO:0030705	Trichomonas prostatitis	biolink:Disease	mondo	ICD9:131.03|UMLS:C0153315|SCTID:71590000|NCIT:C35176		Trichomonas prostatitis|Trichomonas vaginalis caused prostatitis (disease)|Trichomonas vaginalis prostatitis (disease)|trichomonal prostatitis	http://purl.obolibrary.org/obo/MONDO_0030705	Infection of the prostate gland caused by Trichomonas vaginalis.	UMLS:C0153315|SNOMEDCT:71590000|NCIT:C35176
MONDO:0005704	Ciliophora infectious disease	biolink:Disease	mondo	MESH:D016770|EFO:0007209|UMLS:C0085308		Ciliophora disease or disorder|Ciliophora caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005704	Infections with protozoa of the phylum ciliophora.	MESH:D016770|UMLS:C0085308
MONDO:0005701	chlamydia trachomatis infectious disease	biolink:Disease	mondo	ICD9:079.98|COHD:438066|ICD9:078.88|ICD9:079.88|NCIT:C34463|EFO:0007205|SCTID:105629000|DOID:11263		Chlamydia trachomatis infectious disease|Chlamydia trachomatis disease or disorder|chlamydial disease|chlamydia trachomatis infectious disease|Chlamydia trachomatis caused disease or disorder|chlamydia|Chlamydial infection	http://purl.obolibrary.org/obo/MONDO_0005701	An infection that is caused by Chlamydia trachomatis.	NCIT:C34463|SNOMEDCT:105629000|DOID:11263
MONDO:0030701	autoimmune cardiomyopathy	biolink:Disease	mondo	DOID:0040095			http://purl.obolibrary.org/obo/MONDO_0030701	An autoimmune form of cardiomyopathy.	DOID:0040095
MONDO:0005700	chickenpox	biolink:Disease	mondo	UMLS:C0008049|COHD:434272|SCTID:38907003|DOID:8659|ICD10:B01|ICD9:052|ICD9:052.9|EFO:0007204|MESH:D002644|ICD10:B01.9|NCIT:C97132		chicken pox|Varicella|chickenpox|varicella|chicken pox infection	http://purl.obolibrary.org/obo/MONDO_0005700	A contagious childhood disorder caused by the varicella zoster virus. It is transmitted via respiratory secretions and contact with chickenpox blister contents. It presents with a vesicular skin rash, usually associated with fever, headache, and myalgias. The pruritic fluid-filled vesicles occur 10-21 days after exposure and last for 3-4 days. An additional 3-4 days of malaise follows before the affected individual feels better. An individual is contagious 1-2 days prior to the appearance of the blisters until all blisters are crusted over. Generally, healthy individuals recover without complications.	DOID:8659|MESH:D002644|UMLS:C0008049|SNOMEDCT:38907003|NCIT:C97132
MONDO:0030700	autoimmune glomerulonephritis	biolink:Disease	mondo	DOID:0040094		autoimmune glomerulonephritis (disease)	http://purl.obolibrary.org/obo/MONDO_0030700	An autoimmune form of glomerulonephritis (disease).	DOID:0040094
CL:0002009	macrophage dendritic cell progenitor	biolink:Cell	mondo			MDP	http://purl.obolibrary.org/obo/CL_0002009	A progenitor cell that can give rise to plasmacytoid and myeloid dendritic cells, and to monocytes and macrophages.	
GO:0046467	membrane lipid biosynthetic process	biolink:OntologyClass	mondo			membrane lipid biosynthesis|membrane lipid anabolism|membrane lipid synthesis|membrane lipid formation	http://purl.obolibrary.org/obo/GO_0046467	The chemical reactions and pathways resulting in the formation of membrane lipids, any lipid found in or associated with a biological membrane.	
MONDO:0030707	Trichomonas balanoposthitis	biolink:Disease	mondo	UMLS:C0341769|NCIT:C35406		Trichomonas balanoposthitis	http://purl.obolibrary.org/obo/MONDO_0030707		UMLS:C0341769|NCIT:C35406
MONDO:0030706	Trichomonas cystitis	biolink:Disease	mondo	ICD9:131.09|UMLS:C0341733|NCIT:C35405|SCTID:197850006		cystitis in trichomoniasis|Trichomonas vaginalis cystitis|Trichomonas vaginalis caused cystitis|trichomonal cystitis|Trichomonas cystitis	http://purl.obolibrary.org/obo/MONDO_0030706	An cystitis caused by infection with Trichomonas vaginalis.	UMLS:C0341733|SNOMEDCT:197850006|NCIT:C35405
MONDO:0030708	Trichomonas cervicitis	biolink:Disease	mondo	NCIT:C35588		Trichomonas cervicitis|Trichomonas vaginalis cervicitis (disease)|Trichomonas vaginalis caused cervicitis (disease)	http://purl.obolibrary.org/obo/MONDO_0030708	An cervicitis (disease) caused by infection with Trichomonas vaginalis.	NCIT:C35588
CL:0002001	CD34-positive, CD38-positive granulocyte monocyte progenitor	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002001	A granulocyte monocyte progenitor is CD34-positive, CD38-positive, IL-3receptor-alpha-positive and is CD45RA-negative.	
CL:0002000	Kit-positive erythroid progenitor cell	biolink:Cell	mondo			c- Kit-positive erythroid progenitor cell	http://purl.obolibrary.org/obo/CL_0002000	An erythroid progenitor cell is Kit-positive, Ly6A-negative, CD41-negative, CD127-negative, and CD123-negative. This cell type is also described as being lin-negative, Kit-positive, CD150-negative, CD41-negative, CD105-positive, and FcgR-negative.	
CL:0002003	CD34-positive, GlyA-negative erythroid progenitor cell	biolink:Cell	mondo	FMA:83517			http://purl.obolibrary.org/obo/CL_0002003	An erythroid progenitor cell that is CD34-positive and is GlyA-negative.	
CL:0002005	CD34-positive, CD38-positive megakaryocyte erythroid progenitor cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002005	A megakaryocyte erythroid progenitor cell is CD34-positive, CD38-positive and is IL3-receptor alpha-negative and CD45RA-negative.	
CL:0002004	CD34-negative, GlyA-negative proerythroblast	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002004	A proerythoblast that is CD34-negative and GlyA-negative.	
HGNC:17800	FARSB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17800		
CL:0002006	Kit-positive, CD34-negative megakaryocyte erythroid progenitor cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002006	A megakaryocyte erythroid progenitor cell that is Kit-positive and is Sca1-negative, CD34-negative, CD90-negative, IL7r-alpha-negative and Fcgr II/III-low.	
HGNC:9122	PMS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9122		
UPHENO:0001001	phenotype	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/UPHENO_0001001		
HGNC:9121	PMS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9121		
NCBITaxon:480418	Mycobacterium lepromatosis	organism taxon	mondo	PMID:19019760|PMID:25831531|GC_ID:11			http://purl.obolibrary.org/obo/NCBITaxon_480418		
MONDO:0005714	congenital syphilis	biolink:Disease	mondo	DOID:9856|MESH:D013590|NCIT:C84649|ICD10:A50.9|Orphanet:499009|EFO:0007219|SCTID:35742006|COHD:434279|ICD9:090.9|ICD9:090|ICD10:A50|UMLS:C0039131	ordo_disease	MTCT of syphilis|mother-to-child transmission of syphilis|congenital syphilis	http://purl.obolibrary.org/obo/MONDO_0005714	A life-threatening bacterial infection of the newborn caused by Treponema pallidum. It is transmitted to the infant from a mother with syphilis through the placenta during pregnancy. Signs and symptoms include irritability, fever, failure to thrive, saddle nose, cutaneous rash, and pneumonia.	UMLS:C0039131|SNOMEDCT:35742006|MESH:D013590|ORPHA:499009|DOID:9856|NCIT:C84649
MONDO:0005713	congenital rubella	biolink:Disease	mondo	NCIT:C34992|EFO:0007218		congenital rubella|congenital Rubella syndrome	http://purl.obolibrary.org/obo/MONDO_0005713	A condition, whose clinical manifestations include intrauterine growth restriction, petechial rash, jaundice, generalized lymphadenopathy, hepatosplenomegaly, peripheral pulmonary stenosis, cataracts, and sensorineural deafness, that is caused by fetal exposure to the rubella virus during the first trimester of pregnancy.	NCIT:C34992
MONDO:0005716	contagious pleuropneumonia	biolink:Disease	mondo	EFO:0007221|UMLS:C0032243|MESH:D011002			http://purl.obolibrary.org/obo/MONDO_0005716	A pleuropneumonia of cattle and goats caused by species of mycoplasma.	UMLS:C0032243|MESH:D011002
MONDO:0005715	congenital toxoplasmosis	biolink:Disease	mondo	EFO:0007220|DOID:13336|UMLS:C0040560|MedDRA:10010652|ICD9:771.2|MESH:D014125|GARD:0010326|Orphanet:858|ICD10:P37.1|SCTID:73893000|NCIT:C50503	ordo_disease	congenital toxoplasmosis|Toxoplasma embryopathy|toxoplasmosis, congenital|mother-to-child transmission of toxoplasmosis|Toxoplasma embryofetopathy|toxoplasmosis - congen.	http://purl.obolibrary.org/obo/MONDO_0005715	Toxoplasma infection that is present from birth.	SNOMEDCT:73893000|MESH:D014125|MEDDRA:10010652|NCIT:C50503|DOID:13336|ORPHA:858|UMLS:C0040560
MONDO:0005710	composite lymphoma	biolink:Disease	mondo	UMLS:C0545080|Orphanet:168966|DOID:5820|ICDO:9596/3|NCIT:C38661|MESH:D058617|UMLS:C1266191|EFO:0007215	ordo_disease	composite lymphoma|composite Hodgkin and non-Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0005710	Coexistence of Hodgkin and non-Hodgkin lymphoma in the same anatomic site.	UMLS:C1266191|DOID:5820|UMLS:C0545080|NCIT:C38661|MESH:D058617|ORPHA:168966
MONDO:0005712	congenital nystagmus	biolink:Disease	mondo	DOID:9649|SCTID:64635004|HP:0000639|MESH:D020417|COHD:373489|OMIMPS:310700|ICD9:379.51|EFO:0007217|DC:0000328|ICD10:H55.01		congenital pathologic nystagmus|nystagmus, congenital|nystagmus	http://purl.obolibrary.org/obo/MONDO_0005712	Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with albinism and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)	DOID:9649|SNOMEDCT:64635004|MESH:D020417
MONDO:0005711	congenital diaphragmatic hernia	biolink:Disease	mondo	Orphanet:2140|NCIT:C98893|ICD10:Q79.0|EFO:0007216|ICD10:K44|MedDRA:10010439|GARD:0001481|UMLS:C0235833|DOID:3827|COHD:4066010|ICD10:K44.9	ordo_morphological_anomaly	agenesis of hemidiaphragm|unilateral agenesis of diaphragm|CDH|diaphragmatic hernia|congenital diaphragmatic defect	http://purl.obolibrary.org/obo/MONDO_0005711	Congenital diaphragmatic hernia (CDH) is a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality.	MESH:C538080|ORPHA:2140|MEDDRA:10010439|UMLS:C0235833|DOID:3827|NCIT:C98893
CL:0002019	Ly-76 high reticulocyte	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002019	A reticulocyte that is Ly76-high and is Kit-negative.	
GO:0046474	glycerophospholipid biosynthetic process	biolink:OntologyClass	mondo			glycerophospholipid formation|glycerophospholipid biosynthesis|glycerophospholipid anabolism|glycerophospholipid synthesis|phosphoglyceride biosynthesis|phosphoglyceride biosynthetic process	http://purl.obolibrary.org/obo/GO_0046474	The chemical reactions and pathways resulting in the formation of glycerophospholipids, any derivative of glycerophosphate that contains at least one O-acyl, O-alkyl, or O-alkenyl group attached to the glycerol residue.	
CL:0002012	Kit-low proerythroblast	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002012	A proerythoblast that is Kit-low, Lyg76-positive, and CD71-positive.	
CL:0002014	Kit-negative, Ly-76 high basophilic erythroblast	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002014	A basophilic erythroblast that is Lyg 76-high and is Kit-negative.	
CL:0002013	GlyA-positive basophillic erythroblast	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002013	A basophilic erythroblast that is GlyA-positive.	
CL:0002016	CD71-low, GlyA-positive polychromatic erythroblast	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002016	A polychromatiic erythroblast that is Gly-A-positive and CD71-low.	
CL:0002015	Kit-negative, Ly-76 high polychromatophilic erythroblast	biolink:Cell	mondo			late basophilic and polychromatophilic erythroblast	http://purl.obolibrary.org/obo/CL_0002015	A polychromatophilic erythroblast that is Lyg 76-high and is Kit-negative.	
CL:0002018	CD71-negative, GlyA-positive orthochromatic erythroblast	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002018	An erythroblast that is GlyA-positive and CD71-negative.	
GO:0071417	cellular response to organonitrogen compound	biolink:OntologyClass	mondo			cellular response to organic nitrogen	http://purl.obolibrary.org/obo/GO_0071417	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond.	
CL:0002017	Kit-negative, Ly-76 high orthochromatophilic erythroblasts	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_0002017	An orthochromatophilic erythroblast that is ter119-high, CD71-low, and Kit-negative.	
MONDO:0005707	coccidiosis	biolink:Disease	mondo	EFO:0007212|SCTID:62005008|UMLS:C0009187|NCIT:C34493|MESH:D003048|ICD9:007.2|DOID:2113|COHD:433401		coccidiosis (& [intestinal])|intestinal coccidiosis	http://purl.obolibrary.org/obo/MONDO_0005707	A parasitic infection caused by Coccidia. It affects livestock, birds and humans. In humans the parasite infests the intestinal tract and may cause watery diarrhea, abdominal pain, fever, nausea and vomiting.	MESH:D003048|UMLS:C0009187|NCIT:C34493|SNOMEDCT:62005008|DOID:2113
MONDO:0005706	coccidioidomycosis	biolink:Disease	mondo	SCTID:23247008|EFO:0007211|ICD10:B38|UMLS:C0009186|Orphanet:228123|ICD10:B38.8|ICD10:B38.9|ICD10:B38.7|MedDRA:10009825|ICD9:114|UMLS:C0700644|DOID:13450|ICD10:B38.4|NCIT:C84642|ICD10:B38.3|ICD10:B38.2|ICD10:B38.1|MESH:D003047|ICD9:114.9|ICD10:B38.0|UMLS:CN201384|COHD:437217|GARD:0009525|ICD9:114.1	ordo_disease	California disease|desert rheumatism|Valley fever|primary extrapulmonary coccidioidomycosis|San Joaquin valley fever|Coccidioides immitis infectious disease|Coccidioides immitis caused disease or disorder|desert fever|Coccidioides immitis disease or disorder|Coccidioides infection	http://purl.obolibrary.org/obo/MONDO_0005706	A fungal infection caused by Coccidioides immitis. Affected individuals usually have mild flu-like symptoms. However, pneumonia and systemic involvement with the formation of abscesses may develop as complications of the disease.	MESH:D003047|NCIT:C84642|ORPHA:228123|MEDDRA:10009825|UMLS:C0700644|UMLS:CN201384|UMLS:C0009186|SNOMEDCT:23247008|DOID:13450
CHEBI:589779	piperidinium	biolink:ChemicalSubstance	mondo			piperidine|piperidinium|piperidinium cation|piperidinium(1+)|hexahydropyridinium	http://purl.obolibrary.org/obo/CHEBI_589779	The conjugate acid of piperidine; major species at pH 7.3.	
MONDO:0005709	common cold	biolink:Disease	mondo	NCIT:C34500|COHD:260427|MESH:D003139|ICD10:J00|ICD9:460|UMLS:C0009443|DOID:10459|SCTID:82272006|EFO:0007214		nasopharyngitis, acute|acute viral rhinopharyngitis|acute rhinitis|acute nasopharyngitis|acute nasopharyngitis [common cold]|acute coryza|rhino-sinusitis|nasopharyngitis - acute	http://purl.obolibrary.org/obo/MONDO_0005709	An inflammatory process affecting the nasal mucosa, usually caused by viruses (e.g., rhinovirus, adenovirus, parainfluenza virus, and coronavirus). It is characterized by chills, headaches, mucopurulent nasal discharge, coughing, and facial pain.	MESH:D003139|DOID:10459|UMLS:C0009443|NCIT:C34500|SNOMEDCT:82272006
MONDO:0005708	Colorado tick fever	biolink:Disease	mondo	ICD10:A93.2|UMLS:C0009400|ICD9:066.1|SCTID:6452009|MedDRA:10010022|MESH:D003121|DOID:4885|Orphanet:83595|EFO:0007213	ordo_disease	Mountain tick fever|Colorado tick fever virus infectious disease|American mountain fever|Mountain fever|Colorado tick fever virus caused disease or disorder|Colorado tick encephalitis|Colorado tick fever virus disease or disorder|Colorado tick-borne disease|Tick fever, American mountain	http://purl.obolibrary.org/obo/MONDO_0005708	A febrile illness characterized by chills, aches, vomiting, leukopenia, and sometimes encephalitis. It is caused by the colorado tick fever virus, a reovirus transmitted by the tick Dermacentor andersoni.	MESH:D003121|MEDDRA:10010022|UMLS:C0009400|DOID:4885|SNOMEDCT:6452009|ORPHA:83595
MONDO:0005769	geniculate herpes zoster	biolink:Disease	mondo	DOID:9210|UMLS:C0458220|ICD9:351.8|UMLS:C0017409|NCIT:C84763|EFO:0007281|SCTID:95670000|ICD9:053.11|ICD10:B02.21		Ramsey Hunt syndrome|Herpes zoster auricularis|Ramsay Hunt syndrome type II|Herpes Zoster Oticus|geniculate neuralgia|Ramsay Hunt syndrome type 2|herpetic geniculate ganglionitis|nervus intermedius neuralgia	http://purl.obolibrary.org/obo/MONDO_0005769	A viral ear infection caused by the spread of varicella-zoster virus to the facial nerves. It is characterized by intense otalgia and a cutaneous vesicular eruption.	UMLS:C0458220|SNOMEDCT:95670000|DOID:9210|UMLS:C0017409|NCIT:C84763
MONDO:0003106	obsolete verrucous keratotic hemangioma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003106		
MONDO:0005768	gastrointestinal tuberculosis	biolink:Disease	mondo	ICD9:014.86|UMLS:C0041312|ICD9:014.81|ICD9:014.80|MESH:D014385|COHD:196019|DOID:404|SCTID:186225008|UMLS:C0152717|EFO:0007280		tuberculosis of intestines, peritoneum and mesenteric glands|tuberculosis of gastrointestinal tract|tuberculosis of intestines, peritoneum, and mesenteric glands	http://purl.obolibrary.org/obo/MONDO_0005768	Tuberculosis that involves any region of the gastrointestinal tract, mostly in the distal ileum and the cecum. In most cases, mycobacterium tuberculosis is the pathogen. Clinical features include abdominal pain; fever; and palpable mass in the ileocecal area.	UMLS:C0041312|SNOMEDCT:186225008|MESH:D014385|UMLS:C0152717|DOID:404
MONDO:0003107	infratentorial cancer	biolink:Disease	mondo	ICD10:C71.7|UMLS:C0751593|DOID:4706|NCIT:C4966|MESH:D015192		malignant infratentorial neoplasm|malignant infratentorial tumor|brain neoplasm, infratentorial|infratentorial neoplasms, malignant|malignant infratentorial tumors	http://purl.obolibrary.org/obo/MONDO_0003107	Malignant neoplasms which arise or occur within the intracranial cavity below the tentorium cerebelli. This includes neoplasms within the brain and/or surrounding spaces.	DOID:4706|UMLS:C0751593|MESH:D015192|NCIT:C4966
GO:0046483	heterocycle metabolic process	biolink:OntologyClass	mondo			heterocycle metabolism	http://purl.obolibrary.org/obo/GO_0046483	The chemical reactions and pathways involving heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings).	
MONDO:0003108	cervicomedullary junction neoplasm	biolink:Disease	mondo	NCIT:C5423|UMLS:C1332923|DOID:4707		neoplasm of the cervicomedullary junction|neoplasm of cervicomedullary junction|tumor of the cervicomedullary junction|cervicomedullary junction tumor|cervicomedullary junction neoplasms|tumor of cervicomedullary junction	http://purl.obolibrary.org/obo/MONDO_0003108		UMLS:C1332923|DOID:4707|NCIT:C5423
MONDO:0003109	foramen magnum meningioma	biolink:Disease	mondo	UMLS:C1333630|DOID:4708|NCIT:C5280		meningioma of the Foramen magnum|foramen magnum meningioma (disease)|meningioma (disease) of foramen magnum|meningioma of Foramen magnum	http://purl.obolibrary.org/obo/MONDO_0003109	A meningioma that affects the foramen magnum.	DOID:4708|NCIT:C5280|UMLS:C1333630
MONDO:0005765	foot and mouth disease	biolink:Disease	mondo	EFO:0007277|UMLS:C0016514|MESH:D005536			http://purl.obolibrary.org/obo/MONDO_0005765	A viral infectious disease that results in infection in cattle and swine, has material basis in foot-and-mouth disease virus, which is transmitted by contaminated fomites, or transmitted by ingestion of food contaminated with infected meat or animal products. The infection results in formation of vesicles in the mouth, or on the feet and has symptom lameness.	MESH:D005536|UMLS:C0016514
MONDO:0003102	obsolete perineurioma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003102		
MONDO:0003103	nerve root neoplasm	biolink:Disease	mondo	DOID:4698|UMLS:C1334946|NCIT:C5119		neoplasms, nerve Root|neoplasm of nerve Root|neoplasm of the nerve Root|nerve Root tumor|neoplasm of nerve root|nerve root tumor|nerve Root neoplasms|nerve root neoplasm (disease)|tumor of the nerve Root|tumor of nerve Root|tumor of nerve root|nerve Root tumors	http://purl.obolibrary.org/obo/MONDO_0003103	Benign and malignant neoplasms arising from one or more of the cervical, thoracic, lumbar, sacral, or coccygeal nerve roots. The majority of these tumors are benign. Clinical manifestations may include pain, weakness and loss of sensation along the course of the involved nerve root. Large tumors may cause spinal cord compression.	DOID:4698|NCIT:C5119|UMLS:C1334946
MONDO:0005764	follicular dendritic cell sarcoma	biolink:Disease	mondo	ICD10:C96.4|MESH:D054740|UMLS:C1260325|ONCOTREE:FDCS|EFO:0007276|Orphanet:86902|DOID:6262|NCIT:C9281|ICDO:9758/3|ICDO:9758/1	ordo_disease	follicular Dendritic cell sarcoma|follicular Dendritic cell sarcoma/tumor|sarcoma of follicular dendritic cell|follicular dendritic cell sarcoma|follicular dendritic cell tumour	http://purl.obolibrary.org/obo/MONDO_0005764	A neoplasm composed of spindle to ovoid cells which have morphologic and immunophenotypic characteristics of follicular dendritic cells. It affects lymph nodes and other sites including the tonsils, gastrointestinal tract, spleen, liver, soft tissues, skin, and oral cavity. It usually behaves as a low grade sarcoma. Treatment options include complete surgical removal of the tumor with or without adjuvant chemotherapy or radiotherapy. Recurrences have been reported in up to half of the cases.	UMLS:C1260325|DOID:6262|NCIT:C9281|ORPHA:86902|MESH:D054740
HGNC:9141	PMVK	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9141		
MONDO:0005767	gas gangrene	biolink:Disease	mondo	EFO:0007279|COHD:433696|DOID:9159|ICD9:040.0|SCTID:80466000|UMLS:C0017105|MESH:D005738|ICD10:A48.0		gas bacillus infection|myonecrosis|gas gangrene	http://purl.obolibrary.org/obo/MONDO_0005767	A severe condition resulting from bacteria invading healthy muscle from adjacent traumatized muscle or soft tissue. The infection originates in a wound contaminated with bacteria of the genus clostridium. C. perfringens accounts for the majority of cases (over eighty percent), while C. noyvi, C. septicum, and C. histolyticum cause most of the other cases.	UMLS:C0017105|DOID:9159|MESH:D005738|SNOMEDCT:80466000
MONDO:0003104	epicardium cancer	biolink:Disease	mondo	NCIT:C4568|UMLS:C2607932|DOID:4699		malignant tumor of the epicardium|epicardial tumor|malignant epicardium neoplasm|malignant epicardial tumor|malignant neoplasm of the epicardium|malignant epicardial neoplasm|cancer of epicardium|malignant neoplasm of epicardium|epicardium cancer|malignant tumor of epicardium	http://purl.obolibrary.org/obo/MONDO_0003104	A malignant neoplasm involving the epicardium.	DOID:4699|NCIT:C4568|UMLS:C2607932
MONDO:0005766	fungal lung infectious disease	biolink:Disease	mondo	EFO:0007278|UMLS:C0024116|MESH:D008172		pulmonary fungal disease|fungal lung disease|Fungi lung disease|fungal diseases, pulmonary|fungal infection, pulmonary|fungal lung diseases|pulmonary fungal diseases|lung disease, fungal|pulmonary fungal infection|Fungi caused lung disease|fungal infections, pulmonary|pulmonary fungal infections|fungal disease, pulmonary	http://purl.obolibrary.org/obo/MONDO_0005766	Pulmonary diseases caused by fungal infections, usually through hematogenous spread.	MESH:D008172|UMLS:C0024116
MONDO:0003105	prostate disease	biolink:Disease	mondo	MESH:D011469|NCIT:C26865|UMLS:C0033575|ICD9:602.9|SCTID:30281009|COHD:196734|ICD9:602.8|ICD10:N42.9|DOID:47		prostate gland disease or disorder|disorder of prostate gland|disease of prostate gland|disease or disorder of prostate gland|disorder of prostate gland|prostate disease|prostate gland disease|prostate disorder	http://purl.obolibrary.org/obo/MONDO_0003105	A disease involving the prostate gland.	MESH:D011469|NCIT:C26865|UMLS:C0033575|DOID:47|SNOMEDCT:30281009
MONDO:0005761	filarial elephantiasis	biolink:Disease	mondo	MESH:D004605|ICD10:B74.2|ICD10:B74.1|SCTID:14100003|NCIT:C128360|SCTID:240820001|ICD9:374.83|ICD10:B74.0|EFO:0007272|MedDRA:10016675|DOID:12211|GARD:0003321|Orphanet:2035	ordo_disease	elephantiasis of eyelid|Malayi tropical eosinphilia|Wuchereriasis|lymphatic filariasis|Wuchereria Bancrofti infection|elephantiasis|Bancroftian elephantiasis|Bancroftian filariasis|Bancroftian filarial chyluria|eyelid elephantiasis	http://purl.obolibrary.org/obo/MONDO_0005761	Parasitic infestation of the human lymphatic system by wuchereria bancrofti or brugia malayi. It is also called lymphatic filariasis.	MEDDRA:10016675|MESH:D004605|SNOMEDCT:240820001|ORPHA:2035|SNOMEDCT:14100003|NCIT:C128360|DOID:12211
MONDO:0005760	obsolete fibroepithelial neoplasm	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005760		
MONDO:0005763	Flaviviridae infectious disease	biolink:Disease	mondo	MESH:D018178|EFO:0007274|SCTID:111865007		Flaviviridae disease or disorder|Flaviviridae caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005763	Infections with viruses of the family flaviviridae.	MESH:D018178|SNOMEDCT:111865007
MONDO:0003100	nerve plexus neoplasm	biolink:Disease	mondo	DOID:4693|UMLS:C1334945|NCIT:C5822		nerve plexus neoplasm (disease)|nerve plexus neoplasm|tumor of nerve plexus|neoplasm of the nerve plexus|nerve plexus tumors|neural plexus tumors|nerve plexus neoplasms|neoplasm of nerve plexus|nerve plexus tumor|tumor of the nerve plexus|neural plexus neoplasms	http://purl.obolibrary.org/obo/MONDO_0003100	A neoplasm (disease) that involves the nerve plexus.	NCIT:C5822|UMLS:C1334945|DOID:4693
MONDO:0003101	obsolete intraneural perineurioma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003101		
MONDO:0005762	Filoviridae infectious disease	biolink:Disease	mondo	EFO:0007273|UMLS:C0242917|MESH:D018702		Filoviridae caused disease or disorder|Filoviridae disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005762	Infections with viruses of the family filoviridae. The infections in humans consist of a variety of clinically similar viral hemorrhagic fevers but the natural reservoir host is unknown.	MESH:D018702|UMLS:C0242917
GO:0046488	phosphatidylinositol metabolic process	biolink:OntologyClass	mondo			phosphatidylinositol metabolism|PtdIns metabolic process|phosphoinositide metabolism|phosphoinositide metabolic process|PtdIns metabolism	http://purl.obolibrary.org/obo/GO_0046488	The chemical reactions and pathways involving phosphatidylinositol, any glycophospholipid in which a sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol.	
GO:0046486	glycerolipid metabolic process	biolink:OntologyClass	mondo			glycerolipid metabolism	http://purl.obolibrary.org/obo/GO_0046486	The chemical reactions and pathways involving glycerolipids, any lipid with a glycerol backbone. Diacylglycerol and phosphatidate are key lipid intermediates of glycerolipid biosynthesis.	
GO:0046485	ether lipid metabolic process	biolink:OntologyClass	mondo			ether lipid metabolism|plasmalogen metabolic process	http://purl.obolibrary.org/obo/GO_0046485	The chemical reactions and pathways involving ether lipids, lipids that contain (normally) one lipid alcohol in ether linkage to one of the carbon atoms (normally C-1) of glycerol.	
MONDO:0017758	disorder of vitamin and non-protein cofactor absorption and transport	biolink:Disease	mondo	UMLS:CN227203|Orphanet:309827	ordo_group_of_disorders	disorder of vitamin and non-protein cofactor absorption and transport	http://purl.obolibrary.org/obo/MONDO_0017758		ORPHA:309827|UMLS:CN227203
MONDO:0017759	disorder of catecholamine synthesis	biolink:Disease	mondo	SCTID:237921002|UMLS:C0342685|Orphanet:309830|ICD9:270.8	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017759		SNOMEDCT:237921002|UMLS:C0342685|ORPHA:309830
MONDO:0017754	inborn disorder of porphyrin metabolism	biolink:Disease	mondo	Orphanet:309813|ICD10:E80.5|ICD10:E80.7|UMLS:C1275125|ICD10:E80.6|ICD10:E80.4|SCTID:403832004|ICD10:E80.3|ICD10:E80.2|ICD10:E80.1|ICD10:E80.0	ordo_group_of_disorders	inborn porphyrin-containing compound metabolic process disorder|rare inborn error of porphyrin-containing compound metabolic process|disorder of porphyrin and haem metabolism|inborn error of porphyrin-containing compound metabolic process|rare inborn error of porphyrin-containing compound metabolic process|inherited disorder of porphyrin metabolism|inborn disorder of porphyrin and haem metabolism	http://purl.obolibrary.org/obo/MONDO_0017754	An acquired metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process.	UMLS:C1275125|ORPHA:309813|SNOMEDCT:403832004
MONDO:0017755	inborn disorder of bilirubin metabolism	biolink:Disease	mondo	UMLS:CN227200|Orphanet:309816	ordo_group_of_disorders	hereditary bilirubin metabolism disease|disorder of bilirubin metabolism|bilirubin metabolism disorder|inborn disorder of bilirubin metabolism and excretion|disorder of bilirubin metabolism and excretion	http://purl.obolibrary.org/obo/MONDO_0017755	An instance of bilirubin metabolism disease that is caused by an inherited modification of the individual's genome.	ORPHA:309816|UMLS:CN227200
MONDO:0017756	disorder of pterin metabolism	biolink:Disease	mondo	UMLS:CN227201|Orphanet:309819	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017756		ORPHA:309819|UMLS:CN227201
MONDO:0017757	disorder of metabolite absorption and transport	biolink:Disease	mondo	UMLS:CN227202|Orphanet:309824	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017757		ORPHA:309824|UMLS:CN227202
MONDO:0017750	defect in conserved oligomeric Golgi complex	biolink:Disease	mondo	ICD10:E77.8|Orphanet:309568	ordo_group_of_disorders	defect in COG complex	http://purl.obolibrary.org/obo/MONDO_0017750		ORPHA:309568
MONDO:0017751	obsolete Reye syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0017751		
MONDO:0017752	defect in V-ATPase	biolink:Disease	mondo	Orphanet:309778|ICD10:E77.8	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017752		ORPHA:309778
HGNC:9142	PRRX1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9142		
MONDO:0017753	disorder of peroxisomal alpha-, beta- and omega-oxidation	biolink:Disease	mondo	UMLS:CN227198|Orphanet:309810|GARD:0012476	ordo_group_of_disorders|gard_rare		http://purl.obolibrary.org/obo/MONDO_0017753		ORPHA:309810|UMLS:CN227198
HGNC:9143	PHOX2B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9143		
MONDO:0003117	somatoform disorder	biolink:Disease	mondo	ICD10:F45|ICD10:F45.0|MESH:D013001|COHD:435784|ICD9:300.8|ICD10:F45.9|SCTID:31297008|DOID:4737|ICD9:300.81|NCIT:C34956|ICD9:306.8		psychosomatic disorder|physiological malfunction arising from mental factor|somatoform disorder|psychophysiologic disorder	http://purl.obolibrary.org/obo/MONDO_0003117	A category of psychiatric disorders which are characterized by the presence of physical symptoms that suggest a medical condition but are not fully explained by any known medical reasons.	NCIT:C34956|DOID:4737|SNOMEDCT:31297008|MESH:D013001
MONDO:0005779	hand, foot and mouth disease	biolink:Disease	mondo	SCTID:266108008|UMLS:C0018572|NCIT:C128439|EFO:0007294|ICD10:B08.4|DOID:10881|ICD9:074.3|MESH:D006232		HFMD|hand, foot, and mouth disease|vesicular stomatitis and exanthem|hand foot and mouth disease	http://purl.obolibrary.org/obo/MONDO_0005779	A clinical syndrome that is usually caused by enterovirus infection, and that is characterized by fever, anorexia, and painful sores in the mouth, distal extremities, and/or other sites, including the buttocks.	MESH:D006232|SNOMEDCT:266108008|UMLS:C0018572|DOID:10881|NCIT:C128439
MONDO:0003118	testicular Brenner tumor	biolink:Disease	mondo	NCIT:C39953|DOID:4739|UMLS:C1515281		testes, rudimentary Brenner tumor|testis Brenner tumor	http://purl.obolibrary.org/obo/MONDO_0003118	An uncommon usually benign neoplasm that arises from the testis. It is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma.	DOID:4739|NCIT:C39953|UMLS:C1515281
HP:0031192	Abnormal morphology of left ventricular trabeculae	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0031192	Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae).	
MONDO:0003119	obsolete histiocytoid hemangioma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003119		
MONDO:0003113	extragonadal germ cell cancer	biolink:Disease	mondo	UMLS:C1334581|NCIT:C8881|DOID:4717		malignant neoplasm of the extragonadal germ cell|malignant extragonadal germ cell tumor|extragonadal germ cell tumor, malignant|neoplasm of extragonadal germ cell|tumor of extragonadal germ cell|malignant tumor of extragonadal germ cell|malignant tumor of the extragonadal germ cell|extragonadal germ cell malignant tumor|malignant neoplasm of extragonadal germ cell	http://purl.obolibrary.org/obo/MONDO_0003113	A malignant germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary.	UMLS:C1334581|DOID:4717|NCIT:C8881
MONDO:0005776	gnathomiasis	biolink:Disease	mondo	NCIT:C128395|DOID:11379|ICD10:B83.1|EFO:0007289|SCTID:44086001|ICD9:128.1|GARD:0009286|UMLS:C0018013|MESH:D058429		Gnathostoma infection|Gnathostomiasis|infectious disease by Gnathostoma	http://purl.obolibrary.org/obo/MONDO_0005776	An infection that is caused by nematodes of the genus Gnathostoma, which is commonly found in Southeast Asia, and which is transmitted via the consumption of contaminated raw/undercooked birds, eels, fish, frogs, or reptiles. The pattern of symptoms is species-dependent, and extraintestinal manifestations are due to larval migration (e.g., pulmonary infiltrates, eosinophilic meningitis, or painful, pruritic subcutaneous swellings, and peripheral blood eosinophilia).	UMLS:C0018013|DOID:11379|MESH:D058429|NCIT:C128395|SNOMEDCT:44086001
CHEBI:25703	organic phosphate	biolink:ChemicalSubstance	mondo			organophosphate esters|organic phosphate|organic phosphate ester|organic phosphates|organic phosphate esters|organophosphate ester	http://purl.obolibrary.org/obo/CHEBI_25703		
MONDO:0003114	obsolete bone giant cell sarcoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003114		
MONDO:0005775	G6PD deficiency	biolink:Disease	mondo	EFO:0007287|UMLS:C2939465|SCTID:62403005|MESH:D005955|NCIT:C98933|DOID:2862		glucose-6-phosphate dehydrogenase deficiency|inborn error of glucose-6-phosphate dehydrogenase activity|inborn glucose-6-phosphate dehydrogenase activity disorder|rare inborn error of glucose-6-phosphate dehydrogenase activity|G6PD deficiency|glucosephosphate dehydrogenase deficiency|rare inborn error of glucose-6-phosphate dehydrogenase activity|G-6-PD variant enzyme deficiency Anemia|G6PD|deficiency of G-6PD	http://purl.obolibrary.org/obo/MONDO_0005775	An X-linked recessive inherited disorder caused by mutations in the G6PD gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia usually in response to infection or exposure to drugs.	DOID:2862|NCIT:C98933|UMLS:C2939465|MESH:D005955|SNOMEDCT:62403005
MONDO:0003115	subglottic hemangioma	biolink:Disease	mondo	UMLS:C1336518|DOID:472|NCIT:C6026		angioma of subglottis|hemangioma of subglottis|subglottic hemangioma|angioma of the subglottis|subglottis hemangioma|subglottic angioma|subglottis angioma|hemangioma of the subglottis	http://purl.obolibrary.org/obo/MONDO_0003115	A hemangioma arising from the subglottic area.	NCIT:C6026|UMLS:C1336518|DOID:472
MONDO:0005778	haemonchiasis	biolink:Disease	mondo	MESH:D006188|DOID:3332|EFO:0007293|UMLS:C0018477			http://purl.obolibrary.org/obo/MONDO_0005778	Infection with nematodes of the genus haemonchus, characterized by digestive abnormalities and anemia similar to that from hookworm infestation.	MESH:D006188|UMLS:C0018477|DOID:3332
CHEBI:25701	organic oxide	biolink:ChemicalSubstance	mondo			organic oxides	http://purl.obolibrary.org/obo/CHEBI_25701	An oxide in which the oxygen atom is bonded to a carbon atom.	
MONDO:0005777	granuloma inguinale	biolink:Disease	mondo	NCIT:C3065|MESH:D006100|ICD10:A58|SCTID:28867007|UMLS:C0018190|GARD:0009532|COHD:199726|ICD9:099.2|EFO:0007291|DOID:9113	gard_rare	granuloma inguinale|pudendal ulcer|donovanosis	http://purl.obolibrary.org/obo/MONDO_0005777	A condition resulting from infection by Klebsiella granulomati, which is characterized by ulcerative lesions of the genitalia.	SNOMEDCT:28867007|UMLS:C0018190|DOID:9113|NCIT:C3065|MESH:D006100
MONDO:0003116	obsolete calciphylaxis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003116		
MONDO:0005772	geotrichosis	biolink:Disease	mondo	SCTID:13969006|UMLS:C0017455|EFO:0007284|ICD9:117.9|MESH:D005847|DOID:2832|ICD10:B48.3			http://purl.obolibrary.org/obo/MONDO_0005772	Infection due to the fungus Geotrichum.	DOID:2832|MESH:D005847|UMLS:C0017455|SNOMEDCT:13969006
MONDO:0005771	geographic tongue	biolink:Disease	mondo	UMLS:C0017677|EFO:0007283|ICD9:529.1|SCTID:59032001|ICD10:K14.1|NCIT:C84588|COHD:441333|DOID:1455		Pityriasis linguae|glossitis areata exfoliativa|benign migratory glossitis	http://purl.obolibrary.org/obo/MONDO_0005771	A benign condition characterized by the development of irregular patches in the surface of the tongue resulting in a map-like appearance. The patches migrate from day to day and usually resolve without treatment.	DOID:1455|UMLS:C0017677|NCIT:C84588|SNOMEDCT:59032001
MONDO:0003110	skin hemangioma	biolink:Disease	mondo	NCIT:C4905|DOID:471|UMLS:C0687140|SCTID:93471006		angioma of the skin|angioma of skin|hemangioma of skin|hemangioma of the skin|skin hemangioma|zone of skin hemangioma|angiomatous naevus of skin|skin angioma|hemangioma of zone of skin	http://purl.obolibrary.org/obo/MONDO_0003110	A hemangioma arising from the skin.	NCIT:C4905|UMLS:C0687140|DOID:471|SNOMEDCT:93471006
MONDO:0003111	gastric neuroendocrine neoplasm	biolink:Disease	mondo	Orphanet:100075|UMLS:C1333783|DOID:4715|SCTID:721194008|NCIT:C5696		stomach neuroendocrine tumor|stomach NET|neuroendocrine tumor of stomach|neuroendocrine neoplasm of stomach|stomach neuroendocrine tumor|neuroendocrine neoplasm of the stomach|NET of stomach|gastric neuroendocrine neoplasm|stomach neuroendocrine neoplasm|stomach neuroendocrine tumor, well differentiated, low or intermediate grade|neuroendocrine tumor of the stomach	http://purl.obolibrary.org/obo/MONDO_0003111	A neoplasm with neuroendocrine differentiation that arises from the stomach. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).	NCIT:C5696|ORPHA:100075|UMLS:C1333783|SNOMEDCT:721194008|DOID:4715
MONDO:0005774	glanders	biolink:Disease	mondo	GARD:0009536|ICD10:A24.0|UMLS:C0017589|NCIT:C34638|EFO:0007286|MESH:D005896|DOID:13444|COHD:437492|ICD9:024|SCTID:4639008	gard_rare	Burkholderia mallei infection|farcy pipes|Burkholderia mallei|infection due to Pseudomonas mallei|Burkholderia mallei disease or disorder|Burkholderia mallei infectious disease|Burkholderia mallei caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005774	A condition resulting from infection by Burkholderia mallei, which mainly affects horses.	SNOMEDCT:4639008|MESH:D005896|UMLS:C0017589|NCIT:C34638|DOID:13444
MONDO:0005773	Gerstmann syndrome	biolink:Disease	mondo	SCTID:36785009|MedDRA:10048608|MESH:D005862|EFO:0007285|GARD:0008660|ICD9:784.69|DOID:4969|ICD10:F81.2|Orphanet:221117	gard_rare|ordo_disease	Gerstmann Badal syndrome|GS|developmental Gerstmann syndrome|aphasia-angular gyrus syndrome|Gerstmann tetrad	http://purl.obolibrary.org/obo/MONDO_0005773	Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter damage in the parietal lobe.	ORPHA:221117|UMLS:C0017494|MESH:D005862|SNOMEDCT:36785009|MEDDRA:10048608|DOID:4969
MONDO:0003112	malignant gastric germ cell tumor	biolink:Disease	mondo	UMLS:C1334584|DOID:4716|UMLS:C1333769|NCIT:C5486		malignant germ cell neoplasm of the stomach|malignant germ cell neoplasm of stomach|malignant gastric germ cell neoplasm|malignant gastric germ cell tumor|malignant germ cell tumor of the stomach|malignant germ cell tumor of stomach|germ cell tumor of the stomach	http://purl.obolibrary.org/obo/MONDO_0003112	A malignant germ cell tumor that arises from the stomach. It includes choriocarcinoma and immature teratoma.	NCIT:C5486|UMLS:C1334584|UMLS:C1333769|DOID:4716
MONDO:0005770	genital herpes	biolink:Disease	mondo	DOID:8704|ICD9:054.10|NCIT:C14364|UMLS:C0019342|SCTID:33839006|EFO:0007282|ICD9:054.1|ICD9:054.19|MESH:D006558		venereal herpes|genital herpes simplex|HERPES genitalia|Virus-genital Herpes|Herpes Genitalis	http://purl.obolibrary.org/obo/MONDO_0005770	Herpes simplex infection of the genitals, most commonly caused by the herpes simplex-2 virus.	DOID:8704|SNOMEDCT:33839006|UMLS:C0019342|MESH:D006558|NCIT:C14364
CHEBI:597326	pyridoxal 5'-phosphate(2-)	biolink:ChemicalSubstance	mondo			3-hydroxy-5-(hydroxymethyl)-2-methylisonicotinaldehyde 5-phosphate dianion|pyridoxal 5'-phosphate|(4-formyl-5-hydroxy-6-methylpyridin-3-yl)methyl phosphate|3-hydroxy-5-(hydroxymethyl)-2-methylisonicotinaldehyde 5-phosphate(2-)|pyridoxal 5'-phosphate dianion	http://purl.obolibrary.org/obo/CHEBI_597326	The dianion resulting from the removal of two protons from the phosphate group of pyridoxal 5'-phosphate.	
GO:0046496	nicotinamide nucleotide metabolic process	biolink:OntologyClass	mondo			nicotinamide nucleotide metabolism	http://purl.obolibrary.org/obo/GO_0046496	The chemical reactions and pathways involving nicotinamide nucleotides, any nucleotide that contains combined nicotinamide.	
MONDO:0017747	disorder of fucoglycosan synthesis	biolink:Disease	mondo	Orphanet:309505|ICD10:E77.8|UMLS:CN227193	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017747		ORPHA:309505|UMLS:CN227193
MONDO:0017748	inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation	biolink:Disease	mondo	Orphanet:309515|ICD10:E77.8|UMLS:CN227194	ordo_group_of_disorders	disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation|disorder of glycosphingolipid and GPI-anchored proteins glycosylation	http://purl.obolibrary.org/obo/MONDO_0017748		ORPHA:309515|UMLS:CN227194
MONDO:0017749	disorder of multiple glycosylation	biolink:Disease	mondo	Orphanet:309526|ICD10:E77.8|UMLS:CN227195	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017749		ORPHA:309526|UMLS:CN227195
MONDO:0017743	disorder of O-N-acetylgalactosaminylglycan synthesis	biolink:Disease	mondo	Orphanet:309458|ICD10:E77.8|UMLS:CN227190	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017743		ORPHA:309458|UMLS:CN227190
MONDO:0017744	disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis	biolink:Disease	mondo	ICD10:E77.8|Orphanet:309463|UMLS:CN227191	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017744		ORPHA:309463|UMLS:CN227191
MONDO:0017745	disorder of O-mannosylglycan synthesis	biolink:Disease	mondo	Orphanet:309469|ICD10:E77.8|UMLS:CN227192	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017745		ORPHA:309469|UMLS:CN227192
MONDO:0017746	atypical Rett syndrome	biolink:Disease	mondo	GARD:0004694|Orphanet:3095|UMLS:C2748910|SCTID:718393002|ICD10:F84.2	ordo_disease	Rett like syndrome|Rett syndrome variant|atypical RTT	http://purl.obolibrary.org/obo/MONDO_0017746	Atypical Rett syndrome (atypical RTT) is a neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT).	SNOMEDCT:718393002|UMLS:C2748910|ORPHA:3095
HGNC:9155	PNLIP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9155		
MONDO:0017740	disorder of protein N-glycosylation	biolink:Disease	mondo	ICD10:E77.8|UMLS:CN227187|Orphanet:309347	ordo_group_of_disorders	disorder of protein N-linked glycosylation|disorder of protein N-linked glycosylation|protein N-linked glycosylation disease	http://purl.obolibrary.org/obo/MONDO_0017740	A disease that has its basis in the disruption of protein N-linked glycosylation.	ORPHA:309347|UMLS:CN227187
MONDO:0017741	disorder of protein O-glycosylation	biolink:Disease	mondo	UMLS:CN227188|Orphanet:309447|ICD10:E77.8	ordo_group_of_disorders	disorder of protein O-linked glycosylation|disorder of protein O-linked glycosylation|protein O-linked glycosylation disease	http://purl.obolibrary.org/obo/MONDO_0017741	A disease that has its basis in the disruption of protein O-linked glycosylation.	ORPHA:309447|UMLS:CN227188
HGNC:9153	PNKD	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9153		
MONDO:0017742	disorder of O-xylosylglycan synthesis	biolink:Disease	mondo	UMLS:CN227189|ICD10:E77.8|Orphanet:309450	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017742		ORPHA:309450|UMLS:CN227189
HGNC:9154	PNKP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9154		
MONDO:0005747	enterovirus infectious disease	biolink:Disease	mondo	ICD9:079.89|SCTID:53648006|EFO:0007255|MESH:D004769|UMLS:C0014378		infections, Enterovirus|enteroviral infection|disease due to enterovirus|Enterovirus disease or disorder|enterovirus infectious disease|Enterovirus infectious disease|infection, Enterovirus|Enterovirus caused disease or disorder|Enterovirus infection|disease caused by enterovirus|enterovirus infection	http://purl.obolibrary.org/obo/MONDO_0005747	An disease caused by infection with Enterovirus.	SNOMEDCT:53648006|MESH:D004769|UMLS:C0014378
MONDO:0005746	enterobiasis	biolink:Disease	mondo	ICD9:127.4|COHD:197223|SCTID:266162007|NCIT:C128396|DOID:7457|UMLS:C0030100|UMLS:C0086227|EFO:0007254|ICD10:B80		oxyuriasis|Oxyuris vermicularis infection|Enterobius vermicularis infectious disease|Enterobius vermicularis caused disease or disorder|threadworm infection|Enterobius vermicularis infection|pinworm infection|Enterobius vermicularis disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005746	An infection that is caused by the nematode Enterobius vermicularis; it is characterized predominantly by perianal pruritus.	NCIT:C128396|UMLS:C0086227|DOID:7457|SNOMEDCT:266162007|UMLS:C0030100
MONDO:0005749	eosinophilic pneumonia	biolink:Disease	mondo	EFO:0007257|NCIT:C35150|DOID:5870|UMLS:C1527407|ICD10:J82		pneumonia, eosinophilic|eosinophilic pneumonia	http://purl.obolibrary.org/obo/MONDO_0005749	An inflammatory lung disorder characterized by an increased number of eosinophils in the lungs. The majority of cases are idiopathic, without identifiable cause. In a minority of cases, medications, fungal infections, and environmental triggers have been implicated. It manifests as acute or chronic. Acute eosinophilic pneumonia is a severe and rapidly progressing pneumonia that may lead to respiratory failure requiring mechanical ventilation. Chronic eosinophilic pneumonia follows a slower course and manifests as fever, dyspnea, cough, and weight loss.	UMLS:C1527407|DOID:5870|NCIT:C35150
MONDO:0005748	enzootic pneumonia of calves	biolink:Disease	mondo	UMLS:C0276046|MESH:D048089|EFO:0007256			http://purl.obolibrary.org/obo/MONDO_0005748	Chronic endemic respiratory disease of dairy calves and an important component of bovine respiratory disease complex. It primarily affects calves up to six months of age and the etiology is multifactorial. Stress plus a primary viral infection is followed by a secondary bacterial infection. The latter is most commonly associated with pasteurella multocida producing a purulent bronchopneumonia. Sometimes present are mannheimia haemolytica; haemophilus somnus and mycoplasma species.	UMLS:C0276046|MESH:D048089
MONDO:0005743	encephalitozoonosis	biolink:Disease	mondo	MESH:D016890|DOID:4270|ICD9:136.8|SCTID:12825006|EFO:0007250|UMLS:C0085412		infection by Encephalitozoon	http://purl.obolibrary.org/obo/MONDO_0005743	Infection with fungi of the genus encephalitozoon. Lesions commonly occur in the brain and kidney tubules. Other sites of infection in mammals are the liver; adrenal glands; optic nerves; retina; and myocardium.	DOID:4270|SNOMEDCT:12825006|MESH:D016890|UMLS:C0085412
OIO:hasExactSynonym	has_exact_synonym	biolink:OntologyClass	mondo				http://www.geneontology.org/formats/oboInOwl#hasExactSynonym		
MONDO:0005742	emphysematous cholecystitis	biolink:Disease	mondo	DOID:9765|MESH:D041882|EFO:0007249|NCIT:C35592|UMLS:C0521610|SCTID:95558008		gaseous pericholecystitis	http://purl.obolibrary.org/obo/MONDO_0005742	Cholecystitis resulting from infection by gas producing organisms.	MESH:D041882|SNOMEDCT:95558008|DOID:9765|UMLS:C0521610|NCIT:C35592
MONDO:0005745	Enoplea infectious disease	biolink:Disease	mondo	MESH:D017189|EFO:0007253		Enoplea disease or disorder|Enoplea caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005745	Infections with nematodes of the order enoplida.	MESH:D017189
MONDO:0005744	yolk sac tumor	biolink:Disease	mondo	SCTID:404081005|Orphanet:876|ICD10:C56|NCIT:C3011|MedDRA:10048251|EFO:0007252|ICDO:9071/3|UMLS:C0014145|ICD10:C62.9|ONCOTREE:BYST|DOID:1911	ordo_disease	yolk Sac tumor site unspecified|infantile embryonal carcinoma|hepatoid yolk sac tumour|yolk SAC tumor, malignant|yolk Sac neoplasm|endodermal sinus tumor|yolk sac tumor|yolk Sac tumor|yolk Sac tumour site unspecified|endodermal sinus neoplasm	http://purl.obolibrary.org/obo/MONDO_0005744	A non-seminomatous malignant germ cell tumor composed of primitive germ cells. It is the most common malignant germ cell tumor in the pediatric population. It occurs in the infant testis, ovary, sacrococcygeal region, vagina, uterus, prostate, abdomen, liver, retroperitoneum, thorax, and pineal/third ventricle. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). Treatment includes: surgical resection, radiation, and chemotherapy. This tumor is very responsive to chemotherapy regimens that include cisplatinum.	ORPHA:876|DOID:1911|NCIT:C3011|SNOMEDCT:404081005|UMLS:C0014145|MEDDRA:10048251
MONDO:0005741	egg allergy	biolink:Disease	mondo	COHD:442116|DOID:4377|SCTID:91930004|EFO:0007248|UMLS:C0559469|MESH:D021181|ICD9:V15.03		egg allergic disease|allergy of egg|allergy to eggs	http://purl.obolibrary.org/obo/MONDO_0005741	Allergic reaction to eggs that is triggered by the immune system.	DOID:4377|UMLS:C0559469|MESH:D021181|SNOMEDCT:91930004
MONDO:0005740	Echovirus infectious disease	biolink:Disease	mondo	SCTID:271532008|EFO:0007247|UMLS:C0013533|MESH:D004457		Echovirus infection|infection, echo Virus|Echovirus caused disease or disorder|infections, echo Virus|echo Virus infection|infections, Echovirus|infection, Echovirus|echo Virus infections|Echovirus disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005740	Infectious disease processes, including meningitis, diarrhea, and respiratory disorders, caused by echoviruses.	SNOMEDCT:271532008|MESH:D004457|UMLS:C0013533
MONDO:0017729	metachromatic leukodystrophy, late infantile form	biolink:Disease	mondo	ICD10:E75.2|Orphanet:309256	ordo_clinical_subtype	MLD, late infantile form|arylsulfatase A deficiency, late infantile form	http://purl.obolibrary.org/obo/MONDO_0017729		ORPHA:309256
MONDO:0017736	disorder of sialic acid metabolism	biolink:Disease	mondo	Orphanet:309319|UMLS:C0342851|ICD10:E77.8|SCTID:238050009|ICD9:277.89	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017736		UMLS:C0342851|ORPHA:309319|SNOMEDCT:238050009
MONDO:0017737	intermediate severe Salla disease	biolink:Disease	mondo	Orphanet:309331|GARD:0010871|ICD10:E77.8|UMLS:CN203640	gard_rare|ordo_clinical_subtype	Intermediate Salla disease	http://purl.obolibrary.org/obo/MONDO_0017737		ORPHA:309331|UMLS:CN203640
MONDO:0017738	lysosomal glycogen storage disease	biolink:Disease	mondo	UMLS:CN203642|ICD10:E74.0|Orphanet:309337	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017738		ORPHA:309337|UMLS:CN203642
MONDO:0017739	disorder of lysosomal-related organelles	biolink:Disease	mondo	Orphanet:309340|UMLS:CN227186	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017739		ORPHA:309340|UMLS:CN227186
MONDO:0017732	alpha-mannosidosis, infantile form	biolink:Disease	mondo	Orphanet:309282|ICD10:E77.1	ordo_clinical_subtype	lysosomal alpha-D-mannosidase deficiency, infantile form	http://purl.obolibrary.org/obo/MONDO_0017732		ORPHA:309282
MONDO:0017733	alpha-mannosidosis, adult form	biolink:Disease	mondo	UMLS:CN036949|ICD10:E77.1|Orphanet:309288|GTR:AN0103811|GTR:AN0103810	ordo_clinical_subtype	Alpha-mannosidosis adult-onset form|lysosomal alpha-D-mannosidase deficiency, adult form	http://purl.obolibrary.org/obo/MONDO_0017733		ORPHA:309288|UMLS:CN036949
MONDO:0017734	sialidosis	biolink:Disease	mondo	Orphanet:309294|SCTID:38795005|ICD10:E77.1|MedDRA:10058800	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017734	Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations.	SNOMEDCT:38795005|ORPHA:309294|MEDDRA:10058800
MONDO:0017735	congenital aortic valve stenosis	biolink:Disease	mondo	MedDRA:10010371|COHD:314457|SCTID:18546004|ICD10:Q23.0|Orphanet:3093|ICD9:746.3	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0017735		SNOMEDCT:18546004|ORPHA:3093|UMLS:C0152417|MEDDRA:10010371
NCBITaxon:46580	Spirometra	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_46580		
MONDO:0017730	metachromatic leukodystrophy, adult form	biolink:Disease	mondo	Orphanet:309271|ICD10:E75.2	ordo_clinical_subtype	arylsulfatase A deficiency, adult form|MLD, adult form	http://purl.obolibrary.org/obo/MONDO_0017730		ORPHA:309271|UMLS:C0751279
MONDO:0017731	glycoproteinosis	biolink:Disease	mondo	ICD10:E77.1|ICD10:E77.0|GARD:0010670|ICD10:E77.9|Orphanet:309279|ICD10:E77.8	ordo_group_of_disorders|gard_rare		http://purl.obolibrary.org/obo/MONDO_0017731		ORPHA:309279
MONDO:0005739	echinostomiasis	biolink:Disease	mondo	UMLS:C0013514|SCTID:52918004|ICD10:B66.8|EFO:0007246|ICD9:121.8|MESH:D004451|DOID:1218		Echinostomatoidea infectious disease|Echinostomatoidea caused disease or disorder|infection by Echinochasmus|Echinostomatoidea disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005739	Infection by flukes of the genus Echinostoma.	UMLS:C0013514|DOID:1218|SNOMEDCT:52918004|MESH:D004451
MONDO:0005758	eunuchism	biolink:Disease	mondo	NCIT:C131195|SCTID:267403002|DOID:5003|EFO:0007266|ICD9:257.2|UMLS:C0238117|MESH:D005058		hypergonadotropic hypogonadism (Male)|Male hypergonadotropic hypogonadism|Primary testicular failure	http://purl.obolibrary.org/obo/MONDO_0005758	The state of being a eunuch, a male without testes or whose testes failed to develop. It is characterized by the lack of mature male germ cells and testicular hormones.	NCIT:C131195|SNOMEDCT:267403002|MESH:D005058|UMLS:C0238117|DOID:5003
MONDO:0005757	eumycotic mycetoma	biolink:Disease	mondo	ICD10:B47|EFO:0007265|ICD10:B47.9|SCTID:410038006|DOID:13078|ICD9:117.4		Maduromycosis, mycotic|mycotic mycetoma|maduromycosis|eumycetoma|Madura foot	http://purl.obolibrary.org/obo/MONDO_0005757	A chronic granulomatous inflammation involving the deep dermis and the subcutaneous tissues. It is caused by fungi and actinomycetes.	DOID:13078|SNOMEDCT:410038006
MONDO:0005759	fascioloidiasis	biolink:Disease	mondo	UMLS:C0015655|MESH:D005213|EFO:0007268|DOID:1217|SCTID:69550000			http://purl.obolibrary.org/obo/MONDO_0005759	Infection of cattle and other herbivores with the giant liver fluke Fascioloides magna. It is characterized by extensive destruction of the liver parenchyma.	MESH:D005213|DOID:1217|SNOMEDCT:69550000|UMLS:C0015655
MONDO:0005754	epilepsy with generalized tonic-clonic seizures	biolink:Disease	mondo	ICD9:345.10|DOID:7725|MESH:D004830|SCTID:352818000|NCIT:C3022|EFO:0007262|UMLS:C0014549		tonic-clonic epilepsy|grand Mal epilepsy|epileptic seizures, tonic-clonic	http://purl.obolibrary.org/obo/MONDO_0005754	A generalized tonic-clonic seizure.	SNOMEDCT:352818000|NCIT:C3022|MESH:D004830|DOID:7725|UMLS:C0014549
HGNC:9173	POLA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9173		
MONDO:0005753	epiglottitis	biolink:Disease	mondo	MESH:D004826|SCTID:80384002|COHD:4105773|ICD10:J05.1|EFO:0007261|ICD10:J05.10|NCIT:C116007|ICD9:464.3|UMLS:C0014541|DOID:9398		mucosa of epiglottis inflammation|acute epiglottitis|supraglottitis|inflammation of mucosa of epiglottis|acute epiglottitis and supraglottitis	http://purl.obolibrary.org/obo/MONDO_0005753	Inflammation of the epiglottis.	SNOMEDCT:80384002|DOID:9398|MESH:D004826|NCIT:C116007|UMLS:C0014541
MONDO:0005756	ethmoid sinusitis	biolink:Disease	mondo	ICD10:J32.2|DOID:9507|SCTID:18643000|MESH:D015521|UMLS:C0015029|NCIT:C34597|EFO:0007264		ethmoid bone sinusitis|ethmoiditis|ethmoidal sinusitis|sinusitis of ethmoid bone	http://purl.obolibrary.org/obo/MONDO_0005756	An acute or chronic inflammatory process affecting the mucous membrane of the ethmoid sinus.	SNOMEDCT:18643000|NCIT:C34597|DOID:9507|UMLS:C0015029|MESH:D015521
MONDO:0005755	equine infectious anemia	biolink:Disease	mondo	EFO:0007263|MESH:D004859|UMLS:C0014661			http://purl.obolibrary.org/obo/MONDO_0005755	Viral disease of horses caused by the equine infectious anemia virus (eiav; infectious anemia virus, equine). It is characterized by intermittent fever, weakness, and anemia. Chronic infection consists of acute episodes with remissions.	MESH:D004859|UMLS:C0014661
MONDO:0005750	ephemeral fever	biolink:Disease	mondo	EFO:0007258|UMLS:C0014481|MESH:D004810			http://purl.obolibrary.org/obo/MONDO_0005750	An Ephemerovirus infection of cattle caused by bovine ephemeral fever virus (ephemeral fever virus, bovine). It is characterized by respiratory symptoms, increased oropharyngeal secretions and lacrimation, joint pains, tremor, and stiffness.	MESH:D004810|UMLS:C0014481
CHEBI:13719	acetylsalicylate	biolink:ChemicalSubstance	mondo			2-(acetyloxy)benzoate|acetylsalicylate	http://purl.obolibrary.org/obo/CHEBI_13719	A benzoate that is the conjugate base of acetylsalicylic acid, arising from deprotonation of the carboxy group.	
MONDO:0005752	epidural abscess	biolink:Disease	mondo	MESH:D020802|EFO:0007260|UMLS:C0270629|DOID:11387|SCTID:61974008		abscess epidural|intraspinal epidural abscess|spinal epidural abscess|intraspinal extradural abscess|spinal extradural abscess|spinal epidural abscess (disorder)|extradural intraspinal abscess	http://purl.obolibrary.org/obo/MONDO_0005752	Circumscribed collections of suppurative material occurring in the spinal or intracranial epidural space. The majority of epidural abscesses occur in the spinal canal and are associated with osteomyelitis of a vertebral body; analgesia, epidural; and other conditions. Clinical manifestations include local and radicular pain, weakness, sensory loss, urinary incontinence, and fecal incontinence. Cranial epidural abscesses are usually associated with osteomyelitis of a cranial bone, sinusitis, or otitis media. (From Adams et al., Principles of Neurology, 6th ed, p710 and pp1240-1; J Neurol Neurosurg Psychiatry 1998 Aug;65(2):209-12)	DOID:11387|MESH:D020802|SNOMEDCT:61974008|UMLS:C0270629
MONDO:0005751	epidemic pleurodynia	biolink:Disease	mondo	EFO:0007259|ICD9:074.1|DOID:10882|MESH:D011000|ICD10:B33.0|UMLS:C0032238|COHD:195464|SCTID:83264000		Bamble disease|epidemic pleurisy|epidemic myalgia|epidemic, myositis|devil's grip|Bornholm disease	http://purl.obolibrary.org/obo/MONDO_0005751	An acute, febrile, infectious disease generally occurring in epidemics. It is usually caused by coxsackieviruses B and sometimes by coxsackieviruses A; echoviruses; or other enteroviruses.	SNOMEDCT:83264000|UMLS:C0032238|DOID:10882|MESH:D011000
MONDO:0017718	mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes	biolink:Disease	mondo	Orphanet:309136|UMLS:CN227185	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017718		UMLS:CN227185|ORPHA:309136
MONDO:0017719	gangliosidosis	biolink:Disease	mondo	ICD10:E75.10|SCTID:50967008|GARD:0012510|ICD10:E75.0|Orphanet:309144|UMLS:C0017083|DOID:2368|ICD10:E75.1	ordo_group_of_disorders	mucolipidosis type IV	http://purl.obolibrary.org/obo/MONDO_0017719	A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.	SNOMEDCT:50967008|DOID:2368|ORPHA:309144|UMLS:C0017083
MONDO:0017725	Tay-Sachs disease, b variant, juvenile form	biolink:Disease	mondo	UMLS:CN203621|Orphanet:309185|ICD10:E75.0	ordo_clinical_subtype	hexosaminidase A deficiency, juvenile form|GM2 gangliosidosis, B variant, juvenile form	http://purl.obolibrary.org/obo/MONDO_0017725		ORPHA:309185|UMLS:CN203621
MONDO:0017726	Tay-Sachs disease, b variant, adult form	biolink:Disease	mondo	UMLS:C1848914|Orphanet:309192|ICD10:E75.0	ordo_clinical_subtype	GM2 gangliosidosis, B variant, adult form|hexosaminidase A deficiency, adult form	http://purl.obolibrary.org/obo/MONDO_0017726		ORPHA:309192|UMLS:C1848914
MONDO:0017727	fixed subaortic stenosis	biolink:Disease	mondo	Orphanet:3092|ICD10:Q24.4	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0017727	Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an isolated lesion or in association with additional cardiac malformations (e.g. ventricular septal defect, patent ductus arteriosus, coarctation of the aorta), that presents in childhood with signs of LVOT obstruction (e.g. dyspnea, chest pain, syncope, palpitations) and that can potentially lead to life-threatening complications (e.g. aortic regurgitation, infective endocarditis). It comprises three anatomical subforms: discrete fixed membranous subaortic stenosis (membranous tissue encircling the LVOT), discrete fibromuscular subaortic stenosis (fibromuscular tissue encircling the LVOT) and tunnel subaortic stenosis (fibromuscular diffuse tunnel-like narrowing of the LVOT), the two latter forms being generally more severe than the membranous form.	ORPHA:3092
MONDO:0017728	Tay-Sachs disease, B1 variant	biolink:Disease	mondo	ICD10:E75.0|Orphanet:309239|SCTID:238024005	ordo_clinical_subtype	GM2 gangliosidosis, B1 variant|hexosaminidase A deficiency, B1 variant	http://purl.obolibrary.org/obo/MONDO_0017728		SNOMEDCT:238024005|ORPHA:309239
MONDO:0017721	Sandhoff disease, infantile form	biolink:Disease	mondo	UMLS:CN203617|ICD10:E75.0|Orphanet:309155	ordo_clinical_subtype	Hexosaminidases A and B deficiency, infantile form|infantile GM2 gangliosidosis 0 variant	http://purl.obolibrary.org/obo/MONDO_0017721		UMLS:C0751490|ORPHA:309155|UMLS:CN203617
MONDO:0017722	Sandhoff disease, juvenile form	biolink:Disease	mondo	Orphanet:309162|UMLS:CN203618|ICD10:E75.0	ordo_clinical_subtype	Hexosaminidases A and B deficiency, juvenile form|juvenile GM2 gangliosidosis 0 variant	http://purl.obolibrary.org/obo/MONDO_0017722		UMLS:C0751491|ORPHA:309162|UMLS:CN203618
MONDO:0017723	Sandhoff disease, adult form	biolink:Disease	mondo	ICD10:E75.0|UMLS:CN203619|Orphanet:309169	ordo_clinical_subtype	adult Sandhoff disease|Hexosaminidases A and B deficiency, adult form|Sandhoff disease of adults|adult GM2 gangliosidosis 0 variant	http://purl.obolibrary.org/obo/MONDO_0017723	A Sandhoff disease that occurs in an adult.	UMLS:C0751489|ORPHA:309169|UMLS:CN203619
MONDO:0017724	Tay-Sachs disease, b variant, infantile form	biolink:Disease	mondo	ICD10:E75.0|UMLS:CN203620|Orphanet:309178	ordo_clinical_subtype	GM2 gangliosidosis, B variant, infantile form|hexosaminidase A deficiency, infantile form	http://purl.obolibrary.org/obo/MONDO_0017724		ORPHA:309178|UMLS:CN203620
HGNC:9177	POLE	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9177		
HGNC:9175	POLD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9175		
MONDO:0017720	GM2 gangliosidosis	biolink:Disease	mondo	Orphanet:309152|ICD10:E75.0|DOID:3321|ICD10:E75.00|GARD:0002522|SCTID:33316007|MESH:D020143|UMLS:C0268274	gard_rare|ordo_group_of_disorders	GM>2< gangliosidosis|GM2-gangliosidosis, B, B1, AB variant|gangliosidosis GM2	http://purl.obolibrary.org/obo/MONDO_0017720	A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.	DOID:3321|ORPHA:309152|MESH:D020143|UMLS:C0268274|SNOMEDCT:33316007
HGNC:9179	POLG	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9179		
FOODON:03411335	crab	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03411335	Crabs are decapod crustaceans of the infraorder *Brachyura*, which typically have a very short projecting "tail", usually entirely hidden under the thorax. They live in all the world's oceans, in fresh water, and on land, are generally covered with a thick exoskeleton and have a single pair of claws. Many other animals with similar names - such as hermit crabs, king crabs, porcelain crabs, horseshoe crabs, and crab lice - are not true crabs.   Crabs are generally covered with a thick exoskeleton, composed primarily of highly mineralized chitin, and armed with a single pair of chelae (claws). Crabs are found in all of the world's oceans, while many crabs live in fresh water and on land, particularly in tropical regions. [https://en.wikipedia.org/wiki/Crab]	
UBERON:0004819	kidney epithelium	biolink:AnatomicalEntity	mondo			renal epithelium|epithelium of kidney|kidney epithelial tissue|epithelial tissue of kidney	http://purl.obolibrary.org/obo/UBERON_0004819	the cellular avascular layer of the kidney luminar surfaces	
UBERON:0004817	lacrimal gland epithelium	biolink:AnatomicalEntity	mondo			epithelial tissue of lacrimal gland|epithelium of lacrimal gland|lacrimal gland epithelial tissue	http://purl.obolibrary.org/obo/UBERON_0004817	An epithelium that is part of a lacrimal gland [Automatically generated definition].	
UBERON:0004815	lower respiratory tract epithelium	biolink:AnatomicalEntity	mondo			epithelial tissue of lower respiratory tract|lower respiratory tract epithelial tissue|epithelium of lower respiratory tract	http://purl.obolibrary.org/obo/UBERON_0004815	An epithelium that is part of a lower respiratory tract [Automatically generated definition].	
UBERON:0004816	larynx epithelium	biolink:AnatomicalEntity	mondo			laryngeal epithelium|epithelial tissue of larynx|epithelium of larynx|larynx epithelial tissue	http://purl.obolibrary.org/obo/UBERON_0004816	An epithelium that is part of a larynx [Automatically generated definition].	
UBERON:0004813	seminiferous tubule epithelium	biolink:AnatomicalEntity	mondo			male germinal epithelium|epithelial tissue of seminiferous tubule of testis|testis germinal epithelium|epithelium of seminiferous tubule|epithelial tissue of seminiferous tubule|wall of seminiferous tubule|germinal epithelium (male)|seminiferous epithelium|seminiferous tubule epithelial tissue|epithelium of seminiferous tubule of testis	http://purl.obolibrary.org/obo/UBERON_0004813	the stratified epithelial lining of the seminiferous tubules, consisting of the developing spermatozoa and the supporting Sertoli cells, which are tall, columnar type cells that line the tubule	
HP:0100000	Early onset of sexual maturation	biolink:PhenotypicFeature	mondo	UMLS:C4022392		Early onset of sexual maturation	http://purl.obolibrary.org/obo/HP_0100000	An early onset of puberty, in this case early does not refer to precocious.	
UBERON:0004814	upper respiratory tract epithelium	biolink:AnatomicalEntity	mondo			upper respiratory tract epithelial tissue|epithelium of upper respiratory tract|epithelial tissue of upper respiratory tract	http://purl.obolibrary.org/obo/UBERON_0004814	An epithelium that is part of a upper respiratory tract [Automatically generated definition].	
GO:0034613	cellular protein localization	biolink:OntologyClass	mondo			channel localizer activity|cellular protein localisation	http://purl.obolibrary.org/obo/GO_0034613	Any process in which a protein is transported to, and/or maintained in, a specific location at the level of a cell. Localization at the cellular level encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell.	
GO:0010646	regulation of cell communication	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010646	Any process that modulates the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment.	
GO:0010647	positive regulation of cell communication	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010647	Any process that increases the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment.	
CHEBI:140310	phenyl acetates	biolink:ChemicalSubstance	mondo			a phenyl acetate|phenyl acetate derivative|phenyl acetate derivatives	http://purl.obolibrary.org/obo/CHEBI_140310	An acetate ester obtained by formal condensation of the carboxy group of acetic acid with the hydroxy group of any phenol.	
GO:0010648	negative regulation of cell communication	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010648	Any process that decreases the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment.	
GO:0009653	anatomical structure morphogenesis	biolink:OntologyClass	mondo			morphogenesis|anatomical structure organization|embryogenesis and morphogenesis	http://purl.obolibrary.org/obo/GO_0009653	The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form.	
UBERON:0004822	extrahepatic bile duct epithelium	biolink:AnatomicalEntity	mondo			epithelial tissue of extrahepatic bile duct|epithelium of extrahepatic bile duct|extrahepatic bile duct epithelial tissue	http://purl.obolibrary.org/obo/UBERON_0004822	An epithelium that is part of a extrahepatic bile duct [Automatically generated definition].	
UBERON:0004823	intrahepatic bile duct epithelium	biolink:AnatomicalEntity	mondo			epithelial tissue of intrahepatic bile duct|epithelium of intrahepatic bile duct|intrahepatic bile duct epithelial tissue	http://purl.obolibrary.org/obo/UBERON_0004823	An epithelium that is part of a intrahepatic bile duct [Automatically generated definition].	
UBERON:0004820	bile duct epithelium	biolink:AnatomicalEntity	mondo			epithelium of bile duct|epithelium of biliary duct|biliary duct epithelium	http://purl.obolibrary.org/obo/UBERON_0004820	Any epithelium that lines one of the bile ducts.	
UBERON:0004821	pulmonary alveolus epithelium	biolink:AnatomicalEntity	mondo			epithelial tissue of alveolus|epithelium of alveolus|pulmonary alveolus epithelium|pulmonary alveolar epithelium|alveolus epithelium|epithelium of pulmonary alveolus|alveolus epithelial tissue|alveolar epithelium	http://purl.obolibrary.org/obo/UBERON_0004821	The epithelial layer of the alveoli[MP]. The layer of cells covering the lining of the tiny air sacs at the end of the bronchioles[BTO].	
HGNC:989	BCL10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/989		
UBERON:0004808	gastrointestinal system epithelium	biolink:AnatomicalEntity	mondo			epithelium of gastrointestinal system|epithelial tissue of digestive system|digestive system epithelium|epithelial tissue of gastrointestinal system|epithelium of digestive system|gastrointestinal system epithelial tissue|digestive system epithelial tissue	http://purl.obolibrary.org/obo/UBERON_0004808	An epithelium that is part of a digestive system [Automatically generated definition].	
UBERON:0004809	salivary gland epithelium	biolink:AnatomicalEntity	mondo			epithelium of salivary gland|salivary gland epithelial tissue|epithelial tissue of salivary gland	http://purl.obolibrary.org/obo/UBERON_0004809	An epithelium that is part of a salivary gland [Automatically generated definition].	
FOODON:03411347	obsolete: plant	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03411347		
UBERON:0004806	vas deferens epithelium	biolink:AnatomicalEntity	mondo			deferent duct epithelium|vas deferen epithelial tissue|vas deferens epithelial tissue|sperm duct epithelial tissue|sperm duct epithelium|epithelium of deferent duct|epithelium of ductus deferens|epithelial tissue of deferent duct|epithelial tissue of ductus deferens|vas deferen epithelium|epithelial tissue of vas deferens|deferent duct epithelial tissue|epithelial tissue of sperm duct|epithelium of vas deferen|ductus deferens epithelial tissue|epithelium of vas deferens|epithelium of sperm duct|ductus deferens epithelium|epithelial tissue of vas deferen	http://purl.obolibrary.org/obo/UBERON_0004806	An epithelium that is part of a vas deferens [Automatically generated definition].	
UBERON:0004807	respiratory system epithelium	biolink:AnatomicalEntity	mondo			respiratory system epithelial tissue|apparatus respiratorius epithelium|epithelium of apparatus respiratorius|epithelial tissue of apparatus respiratorius|epithelial tissue of respiratory system|epithelium of respiratory system|apparatus respiratorius epithelial tissue	http://purl.obolibrary.org/obo/UBERON_0004807	An epithelium that is part of a respiratory system [Automatically generated definition].	
UBERON:0004804	oviduct epithelium	biolink:AnatomicalEntity	mondo			columnar epithelium of the fallopian tube|oviduct epithelial tissue|epithelium of fallopian tube|fallopian tube epithelium|columnar epithelium of the oviduct|epithelium of oviduct|epithelium of uterine tube|epithelial tissue of oviduct	http://purl.obolibrary.org/obo/UBERON_0004804	An epithelium that is part of a oviduct [Automatically generated definition].	
GO:0007009	plasma membrane organization	biolink:OntologyClass	mondo			plasma membrane organization and biogenesis|plasma membrane organisation	http://purl.obolibrary.org/obo/GO_0007009	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the plasma membrane.	
UBERON:0004805	seminal vesicle epithelium	biolink:AnatomicalEntity	mondo			seminal vesicle epithelial tissue|epithelium of seminal gland|seminal gland epithelium|epithelial tissue of seminal gland|seminal gland epithelial tissue|epithelium of seminal vesicle|epithelial tissue of seminal vesicle	http://purl.obolibrary.org/obo/UBERON_0004805	An epithelium that is part of a seminal vesicle [Automatically generated definition].	
UBERON:0004802	respiratory tract epithelium	biolink:AnatomicalEntity	mondo			epithelium of respiratory tract|epithelial tissue of respiratory tract|respiratory epithelium|respiratory tract epithelial tissue|airway epithelium	http://purl.obolibrary.org/obo/UBERON_0004802	the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi	
UBERON:0004803	penis epithelium	biolink:AnatomicalEntity	mondo			penis epithelial tissue|epithelium of penis|epithelial tissue of penis	http://purl.obolibrary.org/obo/UBERON_0004803	An epithelium that is part of a penis [Automatically generated definition].	
GO:0007006	mitochondrial membrane organization	biolink:OntologyClass	mondo			mitochondrial membrane organisation|mitochondrial membrane organization and biogenesis	http://purl.obolibrary.org/obo/GO_0007006	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrial membrane, either of the lipid bilayer surrounding a mitochondrion.	
GO:0007005	mitochondrion organization	biolink:OntologyClass	mondo			mitochondria organization|mitochondrion organization and biogenesis|mitochondrion organisation	http://purl.obolibrary.org/obo/GO_0007005	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrion; includes mitochondrial morphogenesis and distribution, and replication of the mitochondrial genome as well as synthesis of new mitochondrial components.	
UBERON:0004811	endometrium epithelium	biolink:AnatomicalEntity	mondo			epithelium of tunica mucosa of endometrium|epithelium of endometrium|epithelial tissue of endometrium|endometrium epithelial tissue|uterine epithelium	http://purl.obolibrary.org/obo/UBERON_0004811	An epithelium that is part of an endometrium [Automatically generated definition].	
UBERON:0004812	male prepuce epithelium	biolink:AnatomicalEntity	mondo			epithelium of foreskin|prepuce of penis epithelial tissue|prepuce epithelial tissue|epithelial tissue of penile prepuce|penile prepuce epithelium|epithelium of penile prepuce|foreskin epithelial tissue|epithelial tissue of prepuce of penis|epithelium of prepuce of penis|foreskin epithelium|prepuce epithelium|epithelium of prepuce|penile prepuce epithelial tissue|prepuce of penis epithelium|epithelial tissue of prepuce|epithelial tissue of foreskin	http://purl.obolibrary.org/obo/UBERON_0004812	An epithelium that is part of a prepuce of penis [Automatically generated definition].	
GO:0022626	cytosolic ribosome	biolink:OntologyClass	mondo			70S ribosome|80S ribosome	http://purl.obolibrary.org/obo/GO_0022626	A ribosome located in the cytosol.	
UBERON:0004810	nephron tubule epithelium	biolink:AnatomicalEntity	mondo			kidney tubule epithelium	http://purl.obolibrary.org/obo/UBERON_0004810	the cellular avascular layer of the renal tubule luminar surfaces	
HP:0100022	Abnormality of movement	biolink:PhenotypicFeature	mondo	MSH:D009069|UMLS:C0026650|SNOMEDCT_US:60342002		Movement disorder|Abnormality of movement|Unusual movement	http://purl.obolibrary.org/obo/HP_0100022	An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.	
HGNC:970	BBS5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/970		
GO:0022610	biological adhesion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0022610	The attachment of a cell or organism to a substrate, another cell, or other organism. Biological adhesion includes intracellular attachment between membrane regions.	
GO:0010623	programmed cell death involved in cell development	biolink:OntologyClass	mondo			programmed cell death involved in development|developmental programmed cell death	http://purl.obolibrary.org/obo/GO_0010623	The activation of endogenous cellular processes that result in the death of a cell as part of its development.	
GO:0010628	positive regulation of gene expression	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010628	Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form.	
GO:0010629	negative regulation of gene expression	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010629	Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form.	
CHEBI:33299	alkaline earth molecular entity	biolink:ChemicalSubstance	mondo			alkaline-earth compounds|alkaline earth molecular entity|alkaline earth compounds|alkaline earth molecular entities	http://purl.obolibrary.org/obo/CHEBI_33299	An alkaline earth molecular entity is a molecular entity containing one or more atoms of an alkaline earth metal.	
GO:0022613	ribonucleoprotein complex biogenesis	biolink:OntologyClass	mondo			RNA-protein complex biogenesis|ribonucleoprotein complex biogenesis and assembly	http://purl.obolibrary.org/obo/GO_0022613	A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a complex containing RNA and proteins. Includes the biosynthesis of the constituent RNA and protein molecules, and those macromolecular modifications that are involved in synthesis or assembly of the ribonucleoprotein complex.	
UBERON:0004801	cervix epithelium	biolink:AnatomicalEntity	mondo			cervical epithelium|epithelium of cervix|cervical canal epithelium|cervical canal epithelial tissue|cervix epithelial tissue	http://purl.obolibrary.org/obo/UBERON_0004801	An epithelium that is part of a uterine cervix [Automatically generated definition].	
CHEBI:33290	food	biolink:ChemicalSubstance	mondo			food materials|food material|food role|foodstuff|foods|foodstuffs	http://purl.obolibrary.org/obo/CHEBI_33290	A physiological role played by any substance of either plant, animal or artificial origin which contains essential body nutrients that can be ingested by an organism to provide energy, promote growth, and maintain the processes of life.	
GO:0009636	response to toxic substance	biolink:OntologyClass	mondo			detoxification response|toxin resistance|toxin susceptibility/resistance	http://purl.obolibrary.org/obo/GO_0009636	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a toxic stimulus.	
CHEBI:33292	fuel	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_33292	An energy-rich substance that can be transformed with release of usable energy.	
HGNC:969	BBS4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/969		
SO:0001026	genome	biolink:SequenceFeature	mondo				http://purl.obolibrary.org/obo/SO_0001026	A genome is the sum of genetic material within a cell or virion.	
CHEBI:33295	diagnostic agent	biolink:ChemicalSubstance	mondo			diagnostic aid	http://purl.obolibrary.org/obo/CHEBI_33295	A substance administered to aid diagnosis of a disease.	
GO:0022618	ribonucleoprotein complex assembly	biolink:OntologyClass	mondo			RNP complex assembly|RNA-protein complex assembly|protein-RNA complex assembly	http://purl.obolibrary.org/obo/GO_0022618	The aggregation, arrangement and bonding together of proteins and RNA molecules to form a ribonucleoprotein complex.	
CHEBI:33296	alkali metal molecular entity	biolink:ChemicalSubstance	mondo			alkali metal molecular entities	http://purl.obolibrary.org/obo/CHEBI_33296	A molecular entity containing one or more atoms of an alkali metal.	
HGNC:967	BBS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/967		
HGNC:987	BCKDHB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/987		
HP:0100037	Abnormality of the scalp hair	biolink:PhenotypicFeature	mondo	UMLS:C4022384		Abnormality of the scalp hair	http://purl.obolibrary.org/obo/HP_0100037	An abnormality of the hair of head.	
HGNC:986	BCKDHA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/986		
HP:0100035	Phonic tics	biolink:PhenotypicFeature	mondo	MSH:D020323|UMLS:C0751901		Verbal tics|Vocal tics	http://purl.obolibrary.org/obo/HP_0100035	Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound.	
HP:0100033	Tics	biolink:PhenotypicFeature	mondo	UMLS:C2169806		Tic disorder|Tics	http://purl.obolibrary.org/obo/HP_0100033	Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppresable and are usually associated with awareness of an urge to perform the movement.	
GO:0022600	digestive system process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0022600	A physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism.	
HP:0100034	Motor tics	biolink:PhenotypicFeature	mondo	MSH:D020323|UMLS:C0751900			http://purl.obolibrary.org/obo/HP_0100034	Movement-based tics affecting discrete muscle groups.	
GO:0010639	negative regulation of organelle organization	biolink:OntologyClass	mondo			negative regulation of organelle organisation|negative regulation of organelle organization and biogenesis	http://purl.obolibrary.org/obo/GO_0010639	Any process that decreases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of an organelle.	
GO:0010638	positive regulation of organelle organization	biolink:OntologyClass	mondo			positive regulation of organelle organization and biogenesis|positive regulation of organelle organisation	http://purl.obolibrary.org/obo/GO_0010638	Any process that increases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of an organelle.	
SO:0001019	copy_number_variation	biolink:SequenceFeature	mondo			CNV|copy number variation|CNP|copy number polymorphism	http://purl.obolibrary.org/obo/SO_0001019	A variation that increases or decreases the copy number of a given region.	
GO:0022601	menstrual cycle phase	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0022601	The progression of physiological phases, occurring in the endometrium during the menstrual cycle that recur at regular intervals during the reproductive years. The menstrual cycle is an ovulation cycle where the endometrium is shed if pregnancy does not occur.	
GO:0022604	regulation of cell morphogenesis	biolink:OntologyClass	mondo			negative regulation of cell shape and cell size|positive regulation of cell shape and cell size|regulation of cell shape and cell size	http://purl.obolibrary.org/obo/GO_0022604	Any process that modulates the frequency, rate or extent of cell morphogenesis. Cell morphogenesis is the developmental process in which the shape of a cell is generated and organized.	
GO:0022603	regulation of anatomical structure morphogenesis	biolink:OntologyClass	mondo			regulation of morphogenesis	http://purl.obolibrary.org/obo/GO_0022603	Any process that modulates the frequency, rate or extent of anatomical structure morphogenesis.	
GO:0022607	cellular component assembly	biolink:OntologyClass	mondo			cell structure assembly|cellular component assembly at cellular level	http://purl.obolibrary.org/obo/GO_0022607	The aggregation, arrangement and bonding together of a cellular component.	
GO:0010608	posttranscriptional regulation of gene expression	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010608	Any process that modulates the frequency, rate or extent of gene expression after the production of an RNA transcript.	
HGNC:952	BARD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/952		
UBERON:0004859	eye gland	biolink:AnatomicalEntity	mondo			gland of eye|eye-associated gland	http://purl.obolibrary.org/obo/UBERON_0004859	A gland that is part of a eye. The eye is a compound unit which depending on the species may consist of an eyeballs plus associated ducts and integumentary structures. Eye glands therefore include the various types of lacrimal gland, the various types of apocrine and sebaceous glands associated with the eyelid.	
HGNC:951	NKX3-2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/951		
HGNC:950	BAP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/950		
UBERON:0004857	skeletal muscle connective tissue	biolink:AnatomicalEntity	mondo			textus connectivus of skeletal muscle tissue|skeletal muscle tissue connective tissue|skeletal muscle tissue textus connectivus|skeletal muscle interstitum|skeletal muscle portion of connective tissue|textus connectivus of skeletal muscle|portion of connective tissue of skeletal muscle tissue|connective tissue of skeletal muscle tissue|skeletal muscle interstitial tissue|skeletal muscle tissue portion of connective tissue|portion of connective tissue of skeletal muscle|connective tissue of skeletal muscle|skeletal muscle textus connectivus	http://purl.obolibrary.org/obo/UBERON_0004857	A connective tissue that surrounds a skeletal muscle tissue.	
OIO:hasSynonymType	has_synonym_type	biolink:OntologyClass	mondo				http://www.geneontology.org/formats/oboInOwl#hasSynonymType		
GO:0010604	positive regulation of macromolecule metabolic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010604	Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass.	
GO:0010605	negative regulation of macromolecule metabolic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010605	Any process that decreases the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass.	
GO:0046649	lymphocyte activation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0046649	A change in morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor.	
GO:0009611	response to wounding	biolink:OntologyClass	mondo			physiological response to wounding	http://purl.obolibrary.org/obo/GO_0009611	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to the organism.	
UBERON:0002203	vasculature of eye	biolink:AnatomicalEntity	mondo			eye vascular network|ocular blood vessel|eye vasculature|ocular vasculature|optic vasculature|vascular network of eye	http://purl.obolibrary.org/obo/UBERON_0002203	Vasculature that is part of the eye region.	
UBERON:0002202	submucosa of trachea	biolink:AnatomicalEntity	mondo			submucous layer of trachea|submucosa of windpipe|tracheal submucosa|windpipe submucosa|trachea submucosa	http://purl.obolibrary.org/obo/UBERON_0002202	A submucosa that is part of a trachea.	
UBERON:0004867	orbital cavity	biolink:AnatomicalEntity	mondo			orbit	http://purl.obolibrary.org/obo/UBERON_0004867	Anatomical cavity bounded by the orbital region of the cranium and forming the location of some or all of the eye.	
UBERON:0004864	vasculature of retina	biolink:AnatomicalEntity	mondo			vasa sanguinea retinae|set of blood vessels of retina|retina vasculature|set of retinal blood vessels|retina vasculature of camera-type eye|retinal blood vessels set|retinal blood vessels|retinal vasculature	http://purl.obolibrary.org/obo/UBERON_0004864	A vasculature that is part of a retina [Automatically generated definition].	
UBERON:0002204	musculoskeletal system	biolink:AnatomicalEntity	mondo			musculo-skeletal system	http://purl.obolibrary.org/obo/UBERON_0002204	Anatomical system that consists of the muscular and skeletal systems.	
GO:0009617	response to bacterium	biolink:OntologyClass	mondo			response to bacteria	http://purl.obolibrary.org/obo/GO_0009617	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a bacterium.	
UBERON:0004862	left lung alveolus	biolink:AnatomicalEntity	mondo			alveolus of lobe of left lung|alveolus of left lung	http://purl.obolibrary.org/obo/UBERON_0004862	An alveolus that is part of a left lung [Automatically generated definition].	
CHEBI:33273	polyatomic anion	biolink:ChemicalSubstance	mondo			polyatomic anions	http://purl.obolibrary.org/obo/CHEBI_33273	An anion consisting of more than one atom.	
UBERON:0002201	vasculature of trunk	biolink:AnatomicalEntity	mondo			torso vascular network|trunk vascular network|vascular network of trunk|vascular network of torso|trunk vasculature|vasculature of torso|torso vasculature	http://purl.obolibrary.org/obo/UBERON_0002201	A vasculature that is part of a trunk [Automatically generated definition].	
UBERON:0002200	vasculature of head	biolink:AnatomicalEntity	mondo			vasculature of adult head|head vascular network|vascular network of adult head|head vasculature|adult head vascular network|cranial vasculature|vascular network of head|adult head vasculature	http://purl.obolibrary.org/obo/UBERON_0002200	Vasculature that is part of a head [Automatically generated definition].	
UBERON:0004861	right lung alveolus	biolink:AnatomicalEntity	mondo			alveolus of right lung	http://purl.obolibrary.org/obo/UBERON_0004861	An alveolus that is part of a right lung [Automatically generated definition].	
HGNC:966	BBS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/966		
FOODON:03411301	algae	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03411301	An informal term for a large, diverse group of photosynthetic eukaryotic organisms that are not necessarily closely related, and is thus polyphyletic.	
UBERON:0004848	respiratory system arterial endothelium	biolink:AnatomicalEntity	mondo			artery endothelium of apparatus respiratorius|respiratory system artery endothelium|arterial endothelium of respiratory system|endothelium of artery of respiratory system|apparatus respiratorius artery endothelium|apparatus respiratorius endothelium of artery|endothelium of artery of apparatus respiratorius|arterial endothelium of apparatus respiratorius|apparatus respiratorius arterial endothelium|respiratory system endothelium of artery|artery endothelium of respiratory system	http://purl.obolibrary.org/obo/UBERON_0004848	An endothelium of artery that is part of a respiratory system [Automatically generated definition].	
UBERON:0004849	respiratory system venous endothelium	biolink:AnatomicalEntity	mondo			apparatus respiratorius venous endothelium|respiratory system endothelium of vein|vein endothelium of respiratory system|endothelium of vein of apparatus respiratorius|venous endothelium of apparatus respiratorius|respiratory system vein endothelium|venous endothelium of respiratory system|endothelium of vein of respiratory system|vein endothelium of apparatus respiratorius|apparatus respiratorius vein endothelium|apparatus respiratorius endothelium of vein	http://purl.obolibrary.org/obo/UBERON_0004849	An endothelium of vein that is part of a respiratory system [Automatically generated definition].	
GO:0046655	folic acid metabolic process	biolink:OntologyClass	mondo			vitamin B9 metabolism|folate metabolic process|vitamin M metabolic process|vitamin M metabolism|folate metabolism|folic acid metabolism|vitamin B9 metabolic process	http://purl.obolibrary.org/obo/GO_0046655	The chemical reactions and pathways involving folic acid, pteroylglutamic acid. Folic acid is widely distributed as a member of the vitamin B complex and is essential for the synthesis of purine and pyrimidines.	
CHEBI:33286	agrochemical	biolink:ChemicalSubstance	mondo			agricultural chemicals|agrichemical|agrochemicals|agrichemicals	http://purl.obolibrary.org/obo/CHEBI_33286	An agrochemical is a substance that is used in agriculture or horticulture.	
CHEBI:33287	fertilizer	biolink:ChemicalSubstance	mondo			fertilizers|fertiliser	http://purl.obolibrary.org/obo/CHEBI_33287	A fertilizer is any substance that is added to soil or water to assist the growth of plants.	
CHEBI:33280	molecular messenger	biolink:ChemicalSubstance	mondo			chemical messenger	http://purl.obolibrary.org/obo/CHEBI_33280		
CHEBI:33281	antimicrobial agent	biolink:ChemicalSubstance	mondo			antibiotics|antimicrobial agents|antibiotic|Antibiotikum|antibiotique|antimicrobial|microbicide|Antibiotika|microbicides|antimicrobials	http://purl.obolibrary.org/obo/CHEBI_33281	A substance that kills or slows the growth of microorganisms, including bacteria, viruses, fungi and protozoans.	
UBERON:0004854	gastrointestinal system mesentery	biolink:AnatomicalEntity	mondo			mesentery of digestive system|mesentery of gastrointestinal system|digestive system mesentery	http://purl.obolibrary.org/obo/UBERON_0004854	A mesentery that is part of a digestive system [Automatically generated definition].	
UBERON:0004851	aorta endothelium	biolink:AnatomicalEntity	mondo			endothelium of trunk of aortic tree|trunk of systemic arterial tree endothelium|endothelium of adult aorta|adult aorta endothelium|trunk of aortic tree endothelium|aortic endothelium|endothelium of aorta|endothelium of trunk of systemic arterial tree	http://purl.obolibrary.org/obo/UBERON_0004851	the thin layer of flat cells that line the aorta and form a barrier between circulating blood in the lumen and the rest of the vessel wall	
CHEBI:33282	antibacterial agent	biolink:ChemicalSubstance	mondo			antibacterials|antibacterial agents|bactericide|bactericides	http://purl.obolibrary.org/obo/CHEBI_33282	A substance (or active part thereof) that kills or slows the growth of bacteria.	
GO:0009628	response to abiotic stimulus	biolink:OntologyClass	mondo			response to abiotic stress	http://purl.obolibrary.org/obo/GO_0009628	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an abiotic (not derived from living organisms) stimulus.	
UBERON:0004852	cardiovascular system endothelium	biolink:AnatomicalEntity	mondo			endothelia|vascular endothelia	http://purl.obolibrary.org/obo/UBERON_0004852	An endothelium that is part of the cardiovascular system.	
CHEBI:33284	nutrient	biolink:ChemicalSubstance	mondo			nutrients	http://purl.obolibrary.org/obo/CHEBI_33284	A nutrient is a food component that an organism uses to survive and grow.	
CHEBI:33285	heteroorganic entity	biolink:ChemicalSubstance	mondo			organoelement compounds|heteroorganic entities	http://purl.obolibrary.org/obo/CHEBI_33285	A heteroorganic entity is an organic molecular entity in which carbon atoms or organic groups are bonded directly to one or more heteroatoms.	
UBERON:0004850	lymph node endothelium	biolink:AnatomicalEntity	mondo			endothelium of lymph node	http://purl.obolibrary.org/obo/UBERON_0004850	An endothelium that is part of a lymph node [Automatically generated definition].	
HGNC:932	BAAT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/932		
FOODON:03411312	wheat plant	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03411312	Wheat (*Triticum* spp.) is a domesticated grass from the Levant that is cultivated worldwide. Major cultivated species of wheat:      * Common wheat or Bread wheat (*Triticum aestivum*) A hexaploid species that is the most widely cultivated in the world.      * Durum (*Triticum durum*) The only tetraploid form of wheat widely used today, and the second most widely cultivated wheat.      * Einkorn (*Triticum monococcum*) A diploid species with wild and cultivated variants. Domesticated at the same time as emmer wheat, but never reached the same importance.      * Emmer (*Triticum dicoccon*) A tetraploid species, cultivated in ancient times but no longer in widespread use.      * Spelt (*Triticum spelta*) Another hexaploid species cultivated in limited quantities.	
HGNC:930	B4GALT7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/930		
UBERON:0004835	epididymis smooth muscle	biolink:AnatomicalEntity	mondo			epididymis involuntary muscle|epididymis non-striated muscle|epididymis smooth muscle tissue|non-striated muscle of epididymis|involuntary muscle of epididymis|smooth muscle of epididymis|smooth muscle tissue of epididymis	http://purl.obolibrary.org/obo/UBERON_0004835	A portion of smooth muscle tissue that is part of a epididymis [Automatically generated definition].	
CHEBI:33253	nucleon	biolink:ChemicalSubstance	mondo			Nukleonen|nucleons|Nukleon|nucleon	http://purl.obolibrary.org/obo/CHEBI_33253	Heavy nuclear particle: proton or neutron.	
CHEBI:33256	primary amide	biolink:ChemicalSubstance	mondo			primary amide|primary amides	http://purl.obolibrary.org/obo/CHEBI_33256	A derivative of an oxoacid RkE(=O)l(OH)m (l =/= 0) in which an acidic hydroxy group has been replaced by an amino or substituted amino group.	
CHEBI:33259	elemental molecular entity	biolink:ChemicalSubstance	mondo			homoatomic molecular entity|homoatomic entity|homoatomic molecular entities	http://purl.obolibrary.org/obo/CHEBI_33259	A molecular entity all atoms of which have the same atomic number.	
GO:0071625	vocalization behavior	biolink:OntologyClass	mondo			vocalisation behaviour	http://purl.obolibrary.org/obo/GO_0071625	The behavior in which an organism produces sounds by a mechanism involving its respiratory system.	
GO:0071624	positive regulation of granulocyte chemotaxis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0071624	Any process that increases the rate, frequency or extent of granulocyte chemotaxis. Granulocyte chemotaxis is the movement of a granulocyte in response to an external stimulus.	
GO:0071623	negative regulation of granulocyte chemotaxis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0071623	Any process that decreases the rate, frequency or extent of granulocyte chemotaxis. Granulocyte chemotaxis is the movement of a granulocyte in response to an external stimulus.	
GO:0071622	regulation of granulocyte chemotaxis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0071622	Any process that modulates the rate, frequency or extent of granulocyte chemotaxis. Granulocyte chemotaxis is the movement of a granulocyte in response to an external stimulus.	
GO:0071621	granulocyte chemotaxis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0071621	The movement of a granulocyte in response to an external stimulus.	
CHEBI:33250	atom	biolink:ChemicalSubstance	mondo			atoms|atomus|atomo|element|elements|atom|atome	http://purl.obolibrary.org/obo/CHEBI_33250	A chemical entity constituting the smallest component of an element having the chemical properties of the element.	
HGNC:924	B4GALT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/924		
CHEBI:33252	atomic nucleus	biolink:ChemicalSubstance	mondo			nuclei|nucleo atomico|noyau atomique|noyau|nucleus atomi|nucleo|Atomkern|nucleus|Kern	http://purl.obolibrary.org/obo/CHEBI_33252	A nucleus is the positively charged central portion of an atom, excluding the orbital electrons.	
HGNC:923	B3GAT3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/923		
FOODON:03411324	grain plant	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03411324	Any grass cultivated (grown) for the edible components of its grain.	
UBERON:0004829	urethra skeletal muscle tissue	biolink:AnatomicalEntity	mondo			skeletal muscle of urethra|skeletal muscle tissue of urethra|urethral skeletal muscle|urethra skeletal muscle tissue|urethra skeletal muscle	http://purl.obolibrary.org/obo/UBERON_0004829	A portion of skeletal muscle tissue that is part of a urethra [Automatically generated definition].	
UBERON:0004827	thyroid gland medulla	biolink:AnatomicalEntity	mondo			thyroid follicle medulla|thyroid gland follicle medulla|thyroid medulla|medulla of thyroid follicle|medulla of thyroid gland|medulla of thyroid gland follicle|medulla of thyroid	http://purl.obolibrary.org/obo/UBERON_0004827	A medulla that is part of a thyroid [Automatically generated definition].	
GO:0046676	negative regulation of insulin secretion	biolink:OntologyClass	mondo			down regulation of insulin secretion|inhibition of insulin secretion|downregulation of insulin secretion|down-regulation of insulin secretion	http://purl.obolibrary.org/obo/GO_0046676	Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of insulin.	
FOODON:03411328	goat	biolink:OntologyClass	mondo			caprine|Capra hircus Linnaeus, 1758	http://purl.obolibrary.org/obo/FOODON_03411328		
CHEBI:59871	D-alpha-amino acid zwitterion	biolink:ChemicalSubstance	mondo			D-alpha-amino acid zwitterions|a D-alpha-amino acid	http://purl.obolibrary.org/obo/CHEBI_59871	Zwitterionic form of a D-alpha-amino acid having an anionic carboxy group and a protonated amino group.	
CHEBI:33266	diatomic nitrogen	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_33266		
CHEBI:33267	elemental nitrogen	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_33267		
UBERON:0004833	lip skeletal muscle	biolink:AnatomicalEntity	mondo			skeletal muscle of lip|skeletal muscle tissue of lip|lip skeletal muscle tissue	http://purl.obolibrary.org/obo/UBERON_0004833	A portion of skeletal muscle tissue that is part of a lip [Automatically generated definition].	
UBERON:0004834	hepatic duct smooth muscle	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004834	Smooth muscle tissue in all or part of a hepatic duct.	
UBERON:0004831	esophagus skeletal muscle	biolink:AnatomicalEntity	mondo			esophagus skeletal muscle tissue|skeletal muscle of esophagus	http://purl.obolibrary.org/obo/UBERON_0004831	A portion of skeletal muscle tissue that is part of a esophagus [Automatically generated definition].	
HGNC:939	BAG3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/939		
UBERON:0004832	anal region skeletal muscle	biolink:AnatomicalEntity	mondo			anal part of perineum skeletal muscle|skeletal muscle tissue of anal region|anal region skeletal muscle tissue|skeletal muscle of anal triangle|anal part of perineum skeletal muscle tissue|skeletal muscle of anal part of perineum|anal triangle skeletal muscle tissue|skeletal muscle of anal region|skeletal muscle tissue of anal triangle|skeletal muscle tissue of anal part of perineum|anal triangle skeletal muscle	http://purl.obolibrary.org/obo/UBERON_0004832	A portion of skeletal muscle tissue that is part of an anal region [Automatically generated definition].	
GO:0009605	response to external stimulus	biolink:OntologyClass	mondo			response to environmental stimulus	http://purl.obolibrary.org/obo/GO_0009605	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external stimulus.	
SO:0001059	sequence_alteration	biolink:SequenceFeature	mondo			partially characterised change in DNA sequence|partially_characterised_change_in_DNA_sequence|INSDC_note:sequence_alteration|uncharacterised_change_in_nucleotide_sequence|sequence variation|INSDC_feature:misc_feature|sequence alteration|INSDC_feature:variation	http://purl.obolibrary.org/obo/SO_0001059	A sequence_alteration is a sequence_feature whose extent is the deviation from another sequence.	
UBERON:0004830	respiratory system skeletal muscle	biolink:AnatomicalEntity	mondo			skeletal muscle of respiratory system|skeletal muscle tissue of apparatus respiratorius|skeletal muscle tissue of respiratory system|skeletal muscle of apparatus respiratorius|respiratory system skeletal muscle tissue	http://purl.obolibrary.org/obo/UBERON_0004830	A portion of skeletal muscle tissue that is part of a respiratory system [Automatically generated definition].	
GO:0009607	response to biotic stimulus	biolink:OntologyClass	mondo			response to biotic stress	http://purl.obolibrary.org/obo/GO_0009607	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a biotic stimulus, a stimulus caused or produced by a living organism.	
CHEBI:33261	organosulfur compound	biolink:ChemicalSubstance	mondo			organosulfur compounds|organosulfur compound	http://purl.obolibrary.org/obo/CHEBI_33261	An organosulfur compound is a compound containing at least one carbon-sulfur bond.	
CHEBI:33262	elemental oxygen	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_33262		
CHEBI:33263	diatomic oxygen	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_33263		
GO:0007076	mitotic chromosome condensation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0007076	The cell cycle process in which chromatin structure is compacted prior to and during mitosis in eukaryotic cells.	
MONDO:0054581	Townes-Brocks syndrome 1	biolink:Disease	mondo	OMIM:107480		rear syndrome|TBS1|renal-ear-anal-radial syndrome|Townes-Brocks syndrome 1; TBS1|anus, imperforate, with hand, Foot, and Ear anomalies|Townes-Brocks-branchiootorenal-like syndrome|deafness, sensorineural, with imperforate anus and thumb anomalies	http://purl.obolibrary.org/obo/MONDO_0054581		http://identifiers.org/omim/107480
MONDO:0054582	Townes-Brocks syndrome 2	biolink:Disease	mondo	OMIM:617466		Townes-Brocks syndrome 2; TBS2|TBS2	http://purl.obolibrary.org/obo/MONDO_0054582		http://identifiers.org/omim/617466
MONDO:0054588	Noonan syndrome-like disorder with loose anagen hair 2	biolink:Disease	mondo	OMIM:617506		NSLH2|Noonan syndrome-like disorder with loose anagen hair 2; NSLH2	http://purl.obolibrary.org/obo/MONDO_0054588		http://identifiers.org/omim/617506
GO:0007088	regulation of mitotic nuclear division	biolink:OntologyClass	mondo			regulation of mitosis	http://purl.obolibrary.org/obo/GO_0007088	Any process that modulates the frequency, rate or extent of mitosis.	
HP:0031797	Clinical course	biolink:PhenotypicFeature	mondo			Natural history of disease	http://purl.obolibrary.org/obo/HP_0031797	The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual.	
MONDO:0054573	Lopes-Maciel-Rodan syndrome	biolink:Disease	mondo	OMIM:617435|UMLS:C4479491		LOMARS|Lopes-Maciel-Rodan syndrome; LOMARS	http://purl.obolibrary.org/obo/MONDO_0054573		http://identifiers.org/omim/617435|UMLS:C4479491
GO:0032024	positive regulation of insulin secretion	biolink:OntologyClass	mondo			upregulation of insulin secretion|up-regulation of insulin secretion|up regulation of insulin secretion|activation of insulin secretion|stimulation of insulin secretion	http://purl.obolibrary.org/obo/GO_0032024	Any process that activates or increases the frequency, rate or extent of the regulated release of insulin.	
MONDO:0054577	bleeding disorder, platelet-type, 21	biolink:Disease	mondo	OMIM:617443		BDPLT21|bleeding disorder, platelet-type, 21; BDPLT21	http://purl.obolibrary.org/obo/MONDO_0054577		http://identifiers.org/omim/617443
HGNC:27288	ACSF3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/27288		
GO:0007059	chromosome segregation	biolink:OntologyClass	mondo			chromosome transmission|chromosome division	http://purl.obolibrary.org/obo/GO_0007059	The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. In eukaryotes, chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles.	
CHEBI:60895	D-alpha-amino acid anion	biolink:ChemicalSubstance	mondo			D-alpha-amino acid anions|D-alpha-amino carboxylate	http://purl.obolibrary.org/obo/CHEBI_60895	Any alpha-amino acid anion in which the parent amino acid has D-configuration.	
MONDO:0054591	Stankiewicz-Isidor syndrome	biolink:Disease	mondo	OMIM:617516|UMLS:C4479599		Stankiewicz-Isidor syndrome; STISS|STISS	http://purl.obolibrary.org/obo/MONDO_0054591		http://identifiers.org/omim/617516|UMLS:C4479599
MONDO:0054593	microcephaly 18, primary, autosomal dominant	biolink:Disease	mondo	DOID:0070295|OMIM:617520|UMLS:C4479608		MCPH18|microcephaly 18, primary, autosomal dominant; MCPH18|primary autosomal dominant microcephaly 18	http://purl.obolibrary.org/obo/MONDO_0054593		http://identifiers.org/omim/617520|DOID:0070295|UMLS:C4479608
ENVO:00010505	aerosol	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_00010505	Airborne solid particles (also called dust or particulate matter (PM)) or liquid droplets.	
FOODON:03411374	crustacean	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03411374	Crustaceans form a large, diverse arthropod taxon which includes such familiar animals as crabs, lobsters, crayfish, shrimp, krill, woodlice, and barnacles. [https://en.wikipedia.org/wiki/Crustacean]	
GO:0007036	vacuolar calcium ion homeostasis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0007036	Any process involved in the maintenance of an internal steady state of calcium ions in the vacuole or between a vacuole and its surroundings.	
ENVO:00010504	surface layer	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_00010504	A layer of some material entity which is adjacent to one or more of its external boundaries and directly interacts with its immediate surroundings.	
GO:0007034	vacuolar transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0007034	The directed movement of substances into, out of or within a vacuole.	
GO:0007041	lysosomal transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0007041	The directed movement of substances into, out of or within a lysosome.	
GO:0034650	cortisol metabolic process	biolink:OntologyClass	mondo			cortisol metabolism	http://purl.obolibrary.org/obo/GO_0034650	The chemical reactions and pathways involving cortisol, the steroid hormone 11-beta-17,21-trihydroxypregn-4-ene-3,20-dione. Cortisol is synthesized from cholesterol in the adrenal gland and controls carbohydrate, fat and protein metabolism and has anti-inflammatory properties.	
GO:0034651	cortisol biosynthetic process	biolink:OntologyClass	mondo			cortisol formation|cortisol anabolism|cortisol synthesis|cortisol biosynthesis	http://purl.obolibrary.org/obo/GO_0034651	The chemical reactions and pathways resulting in the formation of cortisol, the steroid hormone 11-beta-17,21-trihydroxypregn-4-ene-3,20-dione. Cortisol is synthesized from cholesterol in the adrenal gland and controls carbohydrate, fat and protein metabolism and has anti-inflammatory properties.	
GO:0034654	nucleobase-containing compound biosynthetic process	biolink:OntologyClass	mondo			nucleobase, nucleoside, nucleotide and nucleic acid formation|nucleobase, nucleoside, nucleotide and nucleic acid synthesis|nucleobase, nucleoside, nucleotide and nucleic acid anabolism|nucleobase, nucleoside, nucleotide and nucleic acid biosynthesis	http://purl.obolibrary.org/obo/GO_0034654	The chemical reactions and pathways resulting in the formation of nucleobases, nucleosides, nucleotides and nucleic acids.	
GO:0034655	nucleobase-containing compound catabolic process	biolink:OntologyClass	mondo			nucleobase, nucleoside, nucleotide and nucleic acid breakdown|nucleobase, nucleoside, nucleotide and nucleic acid catabolism|nucleobase, nucleoside, nucleotide and nucleic acid catabolic process|nucleobase, nucleoside, nucleotide and nucleic acid degradation	http://purl.obolibrary.org/obo/GO_0034655	The chemical reactions and pathways resulting in the breakdown of nucleobases, nucleosides, nucleotides and nucleic acids.	
GO:0007049	cell cycle	biolink:OntologyClass	mondo			cell-division cycle	http://purl.obolibrary.org/obo/GO_0007049	The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division.	
OBO:so#has_quality	has_quality	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/so#has_quality		
GO:0034641	cellular nitrogen compound metabolic process	biolink:OntologyClass	mondo			cellular nitrogen compound metabolism	http://purl.obolibrary.org/obo/GO_0034641	The chemical reactions and pathways involving various organic and inorganic nitrogenous compounds, as carried out by individual cells.	
GO:0034644	cellular response to UV	biolink:OntologyClass	mondo			cellular response to UV light stimulus|cellular response to ultraviolet light stimulus|cellular response to UV radiation stimulus|cellular response to ultraviolet radiation stimulus	http://purl.obolibrary.org/obo/GO_0034644	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers.	
GO:0034645	cellular macromolecule biosynthetic process	biolink:OntologyClass	mondo			cellular macromolecule anabolism|cellular macromolecule biosynthesis|cellular macromolecule synthesis|cellular biopolymer biosynthetic process|cellular macromolecule formation	http://purl.obolibrary.org/obo/GO_0034645	The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, carried out by individual cells.	
MONDO:0054559	congenital disorder of glycosylation, type IIq	biolink:Disease	mondo	OMIM:617395|DOID:0070269		CDG2Q|congenital disorder of glycosylation, type IIq; CDG2Q|CDG Iiq	http://purl.obolibrary.org/obo/MONDO_0054559		DOID:0070269|http://identifiers.org/omim/617395
GO:0007018	microtubule-based movement	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0007018	A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components.  Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules.	
GO:0007017	microtubule-based process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0007017	Any cellular process that depends upon or alters the microtubule cytoskeleton, that part of the cytoskeleton comprising microtubules and their associated proteins.	
GO:0010669	epithelial structure maintenance	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010669	A tissue homeostatic process required for the maintenance of epithelial structure.	
GO:0007010	cytoskeleton organization	biolink:OntologyClass	mondo			cytoskeleton organization and biogenesis|cytoskeletal regulator activity|cytoskeleton organisation|cytoskeletal organization and biogenesis	http://purl.obolibrary.org/obo/GO_0007010	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures.	
MONDO:0054561	anauxetic dysplasia 2	biolink:Disease	mondo	OMIM:617396		anauxetic dysplasia 2; ANXD2|ANXD2	http://purl.obolibrary.org/obo/MONDO_0054561		http://identifiers.org/omim/617396
MONDO:0054560	anauxetic dysplasia 1	biolink:Disease	mondo	OMIM:607095		spondylometaepiphyseal dysplasia, Menger type|spondylometaepiphyseal dysplasia, anauxetic type|anauxetic dysplasia|spondyloepimetaphyseal dysplasia, anauxetic type|ANXD1|anauxetic dysplasia 1; ANXD1	http://purl.obolibrary.org/obo/MONDO_0054560		http://identifiers.org/omim/607095
MONDO:0054565	short-rib thoracic dysplasia 17 with or without polydactyly	biolink:Disease	mondo	OMIM:617405		SRTD17|short-rib thoracic dysplasia 17 with or without POLYDACTYLY; SRTD17	http://purl.obolibrary.org/obo/MONDO_0054565		http://identifiers.org/omim/617405
MONDO:0054549	peroxisome biogenesis disorder 10b	biolink:Disease	mondo	OMIM:617370		peroxisome biogenesis disorder 10B; PBD10B|PBD10B	http://purl.obolibrary.org/obo/MONDO_0054549		http://identifiers.org/omim/617370
GO:0010677	negative regulation of cellular carbohydrate metabolic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010677	Any process that decreases the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells.	
GO:0010678	negative regulation of cellular carbohydrate metabolic process by negative regulation of transcription, DNA-templated	biolink:OntologyClass	mondo			negative regulation of cellular carbohydrate metabolic process by transcriptional repression|negative regulation of cellular carbohydrate metabolic process by repression of transcription|negative regulation of cellular carbohydrate metabolic process by negative regulation of transcription, DNA-dependent	http://purl.obolibrary.org/obo/GO_0010678	Any cellular process that decreases the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates carried out by repression of transcription.	
GO:0010672	regulation of transcription from RNA polymerase II promoter involved in meiotic cell cycle	biolink:OntologyClass	mondo			regulation of meiosis by regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter, meiotic	http://purl.obolibrary.org/obo/GO_0010672	Any process that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter as part of the meiotic cell cycle.	
GO:0010675	regulation of cellular carbohydrate metabolic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010675	Any process that modulates the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells.	
GO:0010676	positive regulation of cellular carbohydrate metabolic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010676	Any process that increases the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells.	
GO:0010673	positive regulation of transcription from RNA polymerase II promoter involved in meiotic cell cycle	biolink:OntologyClass	mondo			up-regulation of meiosis by positive regulation of transcription from RNA polymerase II promoter|up regulation of meiosis by positive regulation of transcription from RNA polymerase II promoter|positive regulation of meiosis by positive regulation of transcription from RNA polymerase II promoter|upregulation of meiosis by positive regulation of transcription from RNA polymerase II promoter|activation of meiosis by positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter, meiotic|stimulation of meiosis by positive regulation of transcription from RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_0010673	Any process that increases the frequency, rate or extent of transcription from an RNA polymerase II promoter as part of the meiotic cell cycle.	
GO:0034622	cellular protein-containing complex assembly	biolink:OntologyClass	mondo			cellular protein complex assembly|cellular macromolecule complex assembly	http://purl.obolibrary.org/obo/GO_0034622	The aggregation, arrangement and bonding together of a set of components to form a protein complex, occurring at the level of an individual cell.	
GO:0010674	negative regulation of transcription from RNA polymerase II promoter involved in meiotic cell cycle	biolink:OntologyClass	mondo			stimulation of meiosis by negative regulation of transcription from RNA polymerase II promoter|up-regulation of meiosis by negative regulation of transcription from RNA polymerase II promoter|up regulation of meiosis by negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter, meiotic|positive regulation of meiosis by negative regulation of transcription from RNA polymerase II promoter|upregulation of meiosis by negative regulation of transcription from RNA polymerase II promoter|activation of meiosis by negative regulation of transcription from RNA polymerase II promoter	http://purl.obolibrary.org/obo/GO_0010674	Any process that decreases the frequency, rate or extent of transcription from an RNA polymerase II promoter as part of the meiotic cell cycle.	
MONDO:0054551	avascular necrosis of femoral head, primary, 2	biolink:Disease	mondo	OMIM:617383		avascular necrosis of femoral head, primary, 2; ANFH2|ANFH2	http://purl.obolibrary.org/obo/MONDO_0054551		http://identifiers.org/omim/617383
MONDO:0054550	avascular necrosis of femoral head, primary, 1	biolink:Disease	mondo	OMIM:608805		femoral head, aseptic necrosis of|osteonecrosis of femoral head|ANFH1|avascular necrosis of femoral head, primary, 1; ANFH1|ischemic necrosis of femoral head|Femoral head, avascular necrosis of	http://purl.obolibrary.org/obo/MONDO_0054550		http://identifiers.org/omim/608805
HGNC:30892	HUWE1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30892		
MONDO:0003029	skin angiosarcoma	biolink:Disease	mondo	UMLS:C0346081|DOID:4517|NCIT:C4489|SCTID:254794007		skin hemangiosarcoma|hemangiosarcoma of the skin|angiosarcoma (disease) of zone of skin|angiosarcoma of skin|hemangiosarcoma of skin|angiosarcoma of the skin|skin angiosarcoma|zone of skin angiosarcoma (disease)	http://purl.obolibrary.org/obo/MONDO_0003029	A malignant vascular neoplasm arising from the skin.	UMLS:C0346081|NCIT:C4489|DOID:4517|SNOMEDCT:254794007
MONDO:0054615	spermatogenic failure 18	biolink:Disease	mondo	DOID:0070165|OMIM:617576		spermatogenic failure 18; SPGF18|SPGF18	http://purl.obolibrary.org/obo/MONDO_0054615		http://identifiers.org/omim/617576|DOID:0070165
HGNC:9060	PLCD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9060		
MONDO:0003025	conventional angiosarcoma	biolink:Disease	mondo	NCIT:C9426|DOID:4512|UMLS:C1333155		conventional angiosarcoma	http://purl.obolibrary.org/obo/MONDO_0003025	An angiosarcoma characterized by the presence of malignant spindle endothelial cells.	UMLS:C1333155|NCIT:C9426|DOID:4512
MONDO:0005688	campylobacteriosis	biolink:Disease	mondo	SCTID:86500004|EFO:0007190|DOID:13622|MESH:D002169|UMLS:C0006818			http://purl.obolibrary.org/obo/MONDO_0005688	Infections with bacteria of the genus campylobacter.	MESH:D002169|DOID:13622|UMLS:C0006818|SNOMEDCT:86500004
MONDO:0005687	Caliciviridae infectious disease	biolink:Disease	mondo	EFO:0007189|MESH:D017250		infection, Caliciviridae|infection, Calicivirus|Calicivirus infections|Caliciviridae infection|Calicivirus infection|infections, Caliciviridae|infections, Calicivirus	http://purl.obolibrary.org/obo/MONDO_0005687	Virus diseases caused by caliciviridae. They include hepatitis E; vesicular exanthema of swine; acute respiratory infections in felines, rabbit hemorrhagic disease, and some cases of gastroenteritis in humans.	MESH:D017250
MONDO:0003026	gallbladder angiosarcoma	biolink:Disease	mondo	NCIT:C5840|DOID:4513|UMLS:C1333742		angiosarcoma of gallbladder|hemangiosarcoma of gallbladder|gallbladder angiosarcoma|angiosarcoma (disease) of gall bladder|gall bladder angiosarcoma (disease)|gallbladder hemangiosarcoma|hemangiosarcoma of the gallbladder|angiosarcoma of the gallbladder	http://purl.obolibrary.org/obo/MONDO_0003026	An angiosarcoma that is located in the gallbladder.	NCIT:C5840|UMLS:C1333742|DOID:4513
MONDO:0003027	thyroid gland angiosarcoma	biolink:Disease	mondo	UMLS:C1336748|NCIT:C6043|DOID:4514		thyroid angiosarcoma|thyroid gland angiosarcoma|angiosarcoma of the thyroid gland|hemangiosarcoma of the thyroid gland|thyroid gland hemangiosarcoma|hemangiosarcoma of the thyroid|angiosarcoma of thyroid gland|hemangiosarcoma of thyroid gland|angiosarcoma of the thyroid|thyroid hemangiosarcoma|angiosarcoma of thyroid|hemangiosarcoma of thyroid|thyroid gland angiosarcoma (disease)|angiosarcoma (disease) of thyroid gland|thyroid gland malignant hemangioendothelioma	http://purl.obolibrary.org/obo/MONDO_0003027	A usually aggressive malignant vascular tumor primarily involving the thyroid gland. It is often associated with longstanding nodular goiter.	UMLS:C1336748|DOID:4514|NCIT:C6043
MONDO:0003028	thyroid sarcoma	biolink:Disease	mondo	NCIT:C6041|DOID:4515|UMLS:C1336756|EFO:1001971		sarcoma of thyroid gland|sarcoma of the thyroid gland|thyroid sarcoma|sarcoma of the thyroid|sarcoma of thyroid|thyroid gland sarcoma	http://purl.obolibrary.org/obo/MONDO_0003028	A malignant soft tissue neoplasm primarily involving the thyroid gland.	UMLS:C1336756|DOID:4515|NCIT:C6041
MONDO:0005689	cannabis dependence	biolink:Disease	mondo	DOID:9505|ICD10:F12.1|MESH:D002189|NCIT:C34445|SCTID:85005007|ICD10:F12|EFO:0007191|ICD9:305.2|ICD9:304.30|ICD10:F12.2|DOID:1849|ICD9:304.3|SCTID:37344009		cannabis abuse|marijuana abuse|marijuana dependence	http://purl.obolibrary.org/obo/MONDO_0005689	Physical and psychological dependence on the drug cannabis.	MESH:D002189|SNOMEDCT:85005007|NCIT:C34445|SNOMEDCT:37344009|DOID:9505|DOID:1849
MONDO:0003021	central nervous system angiosarcoma	biolink:Disease	mondo	DOID:4504|UMLS:C1332875|NCIT:C5450		central nervous system angiosarcoma (disease)|angiosarcoma of central nervous system|hemangiosarcoma of central nervous system|angiosarcoma of the central nervous system|hemangiosarcoma of the central nervous system|hemangiosarcoma of the CNS|central nervous system hemangiosarcoma|CNS angiosarcoma|central nervous system angiosarcoma|angiosarcoma of the CNS|CNS hemangiosarcoma|angiosarcoma of CNS|hemangiosarcoma of CNS|angiosarcoma (disease) of central nervous system	http://purl.obolibrary.org/obo/MONDO_0003021	A malignant vascular neoplasm arising from the brain, spinal cord or meninges.	UMLS:C1332875|DOID:4504|NCIT:C5450
MONDO:0005684	bulbar polio	biolink:Disease	mondo	MESH:D011052|UMLS:C0032372|ICD9:045.0|EFO:0007186|DOID:9786		poliomyelitis, medullary involvement|medullary involvement poliomyelitis|bulbar poliomyelitis|polio, bulbar|bulbar polio	http://purl.obolibrary.org/obo/MONDO_0005684	A form of paralytic poliomyelitis affecting neurons of the medulla oblongata of the brain stem. Clinical features include impaired respiration, hypertension, alterations of vasomotor control, and dysphagia. Weakness and atrophy of the limbs and trunk due to spinal cord involvement is usually associated. (From Adams et al., Principles of Neurology, 6th ed, p765)	MESH:D011052|DOID:9786|UMLS:C0032372
MONDO:0003022	pediatric angiosarcoma	biolink:Disease	mondo	UMLS:C0279988|DOID:4505|NCIT:C9174		childhood angiosarcoma (disease)|childhood angiosarcoma|childhood hemangiosarcoma|pediatric angiosarcoma (disease)|pediatric hemangiosarcoma|angiosarcoma (disease) of childhood|pediatric angiosarcoma|pediatric angiosarcoma (disease)|angiosarcoma	http://purl.obolibrary.org/obo/MONDO_0003022	An angiosarcoma occurring in childhood.	NCIT:C9174|UMLS:C0279988|DOID:4505
MONDO:0005683	brucellosis	biolink:Disease	mondo	ICD10:A23.3|ICD10:A23.9|ICD10:A23.2|Orphanet:1304|ICD10:A23.1|MedDRA:10006500|ICD10:A23.0|DOID:11077|UMLS:C0006309|GARD:0005966|SCTID:75702008|COHD:441497|ICD9:023|ICD9:023.9|MESH:D002006|NCIT:C84602|ICD10:A23.8|ICD10:A23|EFO:0007185	ordo_disease|gard_rare	Cyprus fever|bang's disease|Rock fever|undulant fever|Gibraltar fever|Mediterranean fever|Malta fever|Maltese fever	http://purl.obolibrary.org/obo/MONDO_0005683	Brucellosis is a bacterial infection that spreads from animals to people via unpasteurized dairy products or by exposure to contaminated animal products or infected animals. Animals that are most commonly infected include sheep, cattle, goats, pigs, and dogs. Brucellosis can cause of range of signs and symptoms, some of which may persist or recur. Initial symptoms may include fever, sweats, malaise, anorexia, headache, fatigue, and/or pain in the muscles, joints, and/or back. Symptoms that may persist or recur include fevers, arthritis, swelling of the testicle and scrotum, swelling of the heart (endocarditis), neurologic symptoms (in up to 5% of cases), chronic fatigue, depression, and/or swelling of the liver or spleen. People who are in jobs or settings that increase exposure to the bacteria are at increased risk for infection. Antibiotics are used to treat brucellosis. Recovery may take a few weeks to several months, and relapses are common. Death from brucellosis is rare, occurring in no more than 2% of cases.	SNOMEDCT:75702008|ORPHA:1304|MEDDRA:10006500|UMLS:C0006309|DOID:11077|NCIT:C84602|MESH:D002006
MONDO:0003023	aorta angiosarcoma	biolink:Disease	mondo	NCIT:C5376|UMLS:C1332312|DOID:4510		aortic angiosarcoma|angiosarcoma of the aorta|hemangiosarcoma of the aorta|angiosarcoma of aorta|hemangiosarcoma of aorta|angiosarcoma (disease) of aorta|aorta angiosarcoma (disease)|aortic hemangiosarcoma	http://purl.obolibrary.org/obo/MONDO_0003023	A malignant vascular neoplasm arising from the aorta.	UMLS:C1332312|DOID:4510|NCIT:C5376
MONDO:0005686	obsolete Bunyaviridae infectious disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005686		
MONDO:0005685	obsolete bullous pemphigoid	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005685		
MONDO:0003024	breast angiosarcoma	biolink:Disease	mondo	MESH:C536368|DOID:4511|NCIT:C5184|UMLS:C1332614|ONCOTREE:BA|GARD:0009974	gard_rare	BA|breast hemangiosarcoma|breast angiosarcoma (disease)|angiosarcoma (disease) of breast|angiosarcoma of breast|hemangiosarcoma of breast|angiosarcoma of the breast|breast angiosarcoma|hemangiosarcoma of the breast	http://purl.obolibrary.org/obo/MONDO_0003024	A malignant vascular neoplasm arising from the breast.	UMLS:C1332614|MESH:C536368|DOID:4511|NCIT:C5184
MONDO:0005680	Brill-Zinsser disease	biolink:Disease	mondo	UMLS:C0006181|EFO:0007182|DOID:11254|ICD10:A75.1|SCTID:47761007|Orphanet:99990|ICD9:081.1	ordo_clinical_subtype	latent typhus|sporadic typhus|Brill's disease|Brill disease|recrudescent typhus|Brill Zinsser disease	http://purl.obolibrary.org/obo/MONDO_0005680	A delayed relapse of epidemic typhus, caused by Rickettsia prowazekii.	ORPHA:99990|SNOMEDCT:47761007|UMLS:C0006181|DOID:11254
MONDO:0005682	bronchopneumonia	biolink:Disease	mondo	EFO:0007184|SCTID:396285007|ICD9:485|COHD:256722|DOID:12375|NCIT:C26710|UMLS:C0006285|MESH:D001996|ICD10:J18.0		lobular pneumonia|chest infection - bronchopneumonia|bronchial pneumonia|chest infection - unspecified bronchopneumonia	http://purl.obolibrary.org/obo/MONDO_0005682	Acute inflammation of the walls of the terminal bronchioles that spreads into the peribronchial alveoli and alveolar ducts. It results in the creation of foci of consolidation, which are surrounded by normal parenchyma. It affects one or more lobes, and is frequently bilateral and basal. It is usually caused by bacteria (e.g., Staphylococcus, Streptococcus, Haemophilus influenzae). Signs and symptoms include fever, cough with production of brown-red sputum, dyspnea, and chest pain.	SNOMEDCT:396285007|MESH:D001996|UMLS:C0006285|DOID:12375|NCIT:C26710
MONDO:0003020	obsolete orofaciodigital syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003020		
MONDO:0005681		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005681		
MONDO:0015018	ichthyosis, congenital, autosomal recessive 12	biolink:Disease	mondo	OMIM:617320|UMLS:C4310621		ichthyosis, congenital, autosomal recessive 12|ichthyosis, congenital, autosomal recessive 12; ARCI12|ichthyosis, congenital, autosomal recessive type 12|ARCI12	http://purl.obolibrary.org/obo/MONDO_0015018	Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CASP14 gene.	UMLS:C4310621|http://identifiers.org/omim/617320
HP:0031703	Abnormal ear morphology	biolink:PhenotypicFeature	mondo	Fyler:4867			http://purl.obolibrary.org/obo/HP_0031703	Any structural anomaly of the ear.	
MONDO:0015017	anterior segment dysgenesis 8	biolink:Disease	mondo	DOID:0080613|UMLS:C4310622|OMIM:617319		anterior segment dysgenesis caused by mutation in CPAMD8|anterior segment dysgenesis 8; ASGD8|anterior segment dysgenesis 8|anterior segment dysgenesis type 8|ASGD8|CPAMD8 anterior segment dysgenesis	http://purl.obolibrary.org/obo/MONDO_0015017	Any anterior segment dysgenesis in which the cause of the disease is a mutation in the CPAMD8 gene.	UMLS:C4310622|DOID:0080613|http://identifiers.org/omim/617319
MONDO:0015016	anterior segment dysgenesis 6	biolink:Disease	mondo	UMLS:C4310623|DOID:0080611|OMIM:617315		anterior segment dysgenesis 6; ASGD6|ASGD6|anterior segment dysgenesis 6|anterior segment dysgenesis type 6	http://purl.obolibrary.org/obo/MONDO_0015016		UMLS:C4310623|DOID:0080611|http://identifiers.org/omim/617315
HP:0031704	Abnormal ear physiology	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0031704	Any functional anomaly of the ear.	
MONDO:0015015	congenital bile acid synthesis defect 6	biolink:Disease	mondo	UMLS:C4310624|DOID:0111067|OMIM:617308		bile acid synthesis defect, congenital, 6|congenital bile acid synthesis defect type 6|ACOX2 congenital bile acid synthesis defect|bile acid synthesis defect, congenital, 6; CBAS6|congenital bile acid synthesis defect caused by mutation in ACOX2|bile acid synthesis defect, congenital, type 6|CBAS6	http://purl.obolibrary.org/obo/MONDO_0015015	Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ACOX2 gene.	UMLS:C4310624|DOID:0111067|http://identifiers.org/omim/617308
MONDO:0017677	focal acral hyperkeratosis	biolink:Disease	mondo	Orphanet:308013|SCTID:400115004|ICD10:Q82.8|UMLS:C1302839	ordo_disease	PPPK3 without elastoidosis|PPKP3 without elastoidosis|punctate palmoplantar keratoderma type 3 without elastoidosis|punctate palmoplantar hyperkeratosis type 3 without elastoidosis	http://purl.obolibrary.org/obo/MONDO_0017677		SNOMEDCT:400115004|UMLS:C1302839|ORPHA:308013
MONDO:0017678	obsolete disease with punctate palmoplantar keratoderma as a major feature	biolink:Disease	mondo	Orphanet:308023|UMLS:CN203565		disease with punctate palmoplantar hyperkeratosis as a major feature	http://purl.obolibrary.org/obo/MONDO_0017678	A disease in which punctate palmoplantar keratoderma is a major feature..	ORPHA:308023
NCBITaxon:58839	Encephalitozoon intestinalis	organism taxon	mondo	GC_ID:1		Septata intestinalis	http://purl.obolibrary.org/obo/NCBITaxon_58839		
MONDO:0017679	obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature	biolink:Disease	mondo	Orphanet:308031|UMLS:CN203566		autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature	http://purl.obolibrary.org/obo/MONDO_0017679		UMLS:CN203566|ORPHA:308031
MONDO:0015019	susceptibility to Yao syndrome	biolink:Disease	mondo	OMIM:617321|UMLS:C4310620|SCTID:768667002	predisposition	YAOS|Yao syndrome	http://purl.obolibrary.org/obo/MONDO_0015019		UMLS:C4310620|http://identifiers.org/omim/617321|SNOMEDCT:768667002
MONDO:0017673	isolated focal palmoplantar keratoderma	biolink:Disease	mondo	Orphanet:307846|ICD10:Q82.8	ordo_group_of_disorders	isolated focal keratosis palmoplantaris|isolated focal palmoplantar hyperkeratosis|nonsyndromic focal palmoplantar keratoderma|isolated focal PPK	http://purl.obolibrary.org/obo/MONDO_0017673	A focal palmoplantar keratoderma that is not part of a larger syndrome.	ORPHA:307846
MONDO:0015010	atypical glycine encephalopathy	biolink:Disease	mondo	Orphanet:289863|ICD10:E72.5|UMLS:C4310943|OMIM:617301	ordo_clinical_subtype	atypical NKA|Glycine encephalopathy with normal serum Glycine|GLYCINE encephalopathy with normal serum GLYCINE|atypical non-ketotic hyperglycinemia	http://purl.obolibrary.org/obo/MONDO_0015010	Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE.	UMLS:C4310943|http://identifiers.org/omim/617301|ORPHA:289863
HGNC:9067	PLD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9067		
MONDO:0017674	disease with focal palmoplantar keratoderma as a major feature	biolink:Disease	mondo	UMLS:CN203558|ICD10:Q82.8|Orphanet:307871	ordo_group_of_disorders|obsoletion_candidate	disease with focal palmoplantar hyperkeratosis as a major feature	http://purl.obolibrary.org/obo/MONDO_0017674	A disease in which focal palmoplantar keratoderma is a major feature..	UMLS:CN203558|ORPHA:307871
MONDO:0017675	punctate palmoplantar keratoderma	biolink:Disease	mondo	SCTID:402773000|Orphanet:307967|DOID:0060361|ICD10:Q82.8|UMLS:C4024851	ordo_group_of_disorders	punctate PPK|punctate keratosis palmoplantaris|punctate palmoplantar hyperkeratosis	http://purl.obolibrary.org/obo/MONDO_0017675	A palmoplantar keratosis characterized by keratoses with a "raindrop" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution.	ORPHA:307967|DOID:0060361|UMLS:C1274216|SNOMEDCT:402773000|UMLS:C4024851
MONDO:0017676	marginal papular palmoplantar keratoderma	biolink:Disease	mondo	ICD10:Q82.8|Orphanet:307995	ordo_group_of_disorders	marginal papular palmoplantar hyperkeratosis	http://purl.obolibrary.org/obo/MONDO_0017676		ORPHA:307995
HGNC:9066	PLCG2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9066		
MONDO:0015014	coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	biolink:Disease	mondo	OMIM:617306|UMLS:C4310625		coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness|coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness; COMMAD|COMMAD	http://purl.obolibrary.org/obo/MONDO_0015014		UMLS:C4310625|http://identifiers.org/omim/617306
MONDO:0015013	retinitis pigmentosa 77	biolink:Disease	mondo	OMIM:617304|DOID:0080350|ICD10CM:H35.5|UMLS:C4310626		retinitis pigmentosa caused by mutation in REEP6|RP77|retinitis pigmentosa type 77|REEP6 retinitis pigmentosa|retinitis pigmentosa 77	http://purl.obolibrary.org/obo/MONDO_0015013	Any retinitis pigmentosa in which the cause of the disease is a mutation in the REEP6 gene.	UMLS:C4310626|DOID:0080350|http://identifiers.org/omim/617304
MONDO:0017670	autosomal dominant diffuse mutilating palmoplantar keratoderma	biolink:Disease	mondo	ICD10:Q82.8|UMLS:CN229100|Orphanet:307773	ordo_group_of_disorders	autosomal dominant diffuse mutilating palmoplantar hyperkeratosis	http://purl.obolibrary.org/obo/MONDO_0017670		UMLS:CN229100|ORPHA:307773
MONDO:0017671	autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature	biolink:Disease	mondo	UMLS:CN203557|Orphanet:307804|ICD10:Q82.8	ordo_group_of_disorders|obsoletion_candidate	autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature	http://purl.obolibrary.org/obo/MONDO_0017671		UMLS:CN203557|ORPHA:307804
MONDO:0015012	mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	biolink:Disease	mondo	OMIM:617303|UMLS:C4310627|Orphanet:505248	ordo_malformation_syndrome	MPSPS|mucopolysaccharidosis-plus syndrome|mucopolysaccharidosis-plus syndrome; MPSPS|mucopolysaccharidosis-like plus disease	http://purl.obolibrary.org/obo/MONDO_0015012		UMLS:C4310627|http://identifiers.org/omim/617303|ORPHA:505248
HGNC:9069	PLEC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9069		
MONDO:0015011	optic atrophy 11	biolink:Disease	mondo	UMLS:CN230145|DOID:0111436|OMIM:617302|UMLS:C4310628		optic atrophy 11|YME1L1 autosomal recessive isolated optic atrophy|OPA11|optic atrophy type 11|autosomal recessive isolated optic atrophy caused by mutation in YME1L1	http://purl.obolibrary.org/obo/MONDO_0015011	Any autosomal recessive isolated optic atrophy in which the cause of the disease is a mutation in the YME1L1 gene.	UMLS:C4310628|UMLS:CN230145|DOID:0111436|http://identifiers.org/omim/617302
MONDO:0017672	focal palmoplantar keratoderma	biolink:Disease	mondo	Orphanet:307837|ICD10:Q82.8	ordo_group_of_disorders	focal palmoplantar hyperkeratosis|focal PPK|focal keratosis palmoplantaris	http://purl.obolibrary.org/obo/MONDO_0017672		ORPHA:307837
HGNC:9071	PLG	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9071		
MONDO:0054602	gaze palsy, familial horizontal, with progressive scoliosis, 2	biolink:Disease	mondo	UMLS:C4479640|OMIM:617542		HGPPS2|gaze palsy, familial horizontal, with progressive scoliosis, 2; HGPPS2	http://purl.obolibrary.org/obo/MONDO_0054602		UMLS:C4479640|http://identifiers.org/omim/617542
MONDO:0054601	pituitary adenoma 5, multiple types	biolink:Disease	mondo	UMLS:C4539685|OMIM:617540		PITA5|pituitary adenoma 5, multiple types; PITA5	http://purl.obolibrary.org/obo/MONDO_0054601		UMLS:C4539685|http://identifiers.org/omim/617540
MONDO:0003036	mucoepidermoid carcinoma	biolink:Disease	mondo	NCIT:C3772|EFO:1001049|ONCOTREE:MUCC|MESH:D018298|MESH:D018277|GARD:0010671|DOID:4531|ICDO:8430/3|ICDO:8430/1|UMLS:C0206694	gard_rare	MUCC|tumor, mucoepidermoid|mucoepidermoid carcinoma|mucoepidermoid tumors|tumors, mucoepidermoid|MEC|mucoepidermoid tumor|mucoepidermoid carcinoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003036	A carcinoma morphologically characterized the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation. It can occur in several anatomic sites, including parotid gland, oral cavity, paranasal sinus, skin, breast, lung, larynx, and lacrimal ducts. It is classified as low or high grade.	NCIT:C3772|DOID:4531|UMLS:C0206694|MESH:D018277|MESH:D018298
MONDO:0005699	cervicofacial actinomycosis	biolink:Disease	mondo	MESH:D000197|UMLS:C0001264|ICD9:039.3|NCIT:C34351|EFO:0007203|ICD10:A42.2|SCTID:23014006		lumpy jaw|cervicofacial actinomycotic infection	http://purl.obolibrary.org/obo/MONDO_0005699	A form of actinomycosis characterized by slow-growing inflammatory lesions of the lymph nodes that drain the mouth (lumpy jaw), reddening of the overlying skin, and intraperitoneal abscesses.	UMLS:C0001264|MESH:D000197|NCIT:C34351|SNOMEDCT:23014006
MONDO:0005698	cervical incompetence	biolink:Disease	mondo	DOID:9681|ICD9:654.50|ICD9:622.5|SCTID:17382005|EFO:0007202|MESH:D002581|ICD10:N88.3			http://purl.obolibrary.org/obo/MONDO_0005698	A clinical diagnosis presenting with painless cervical dilatation and spontaneous mid-trimester birth in recurrent pregnancies in the absence of spontaneous membrane rupture, bleeding or clinical chorioamnionitis.	MESH:D002581|SNOMEDCT:17382005|NCIT:C50607|DOID:9681
MONDO:0003037	hypotrichosis	biolink:Disease	mondo	SCTID:53602002|ICD9:704.09|DOID:4535|OMIMPS:605389|NCIT:C34720|MESH:D007039			http://purl.obolibrary.org/obo/MONDO_0003037	A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body.	SNOMEDCT:53602002|MESH:D007039|DOID:4535|NCIT:C34720
HGNC:9075	SERPINF2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9075		
NCBITaxon:46839	Colorado tick fever virus	organism taxon	mondo	GC_ID:1		CTFV	http://purl.obolibrary.org/obo/NCBITaxon_46839		
MONDO:0003038	dysgraphia (disease)	biolink:Disease	mondo	HP:0010526|ICD10:R48.8|DOID:4540		dysgraphia	http://purl.obolibrary.org/obo/MONDO_0003038	Loss or impairment of the ability to write (letters, syllables, words, or phrases) due to an injury to a specific cerebral area or occasionally due to emotional factors. This condition rarely occurs in isolation, and often accompanies aphasia. (From Adams et al., Principles of Neurology, 6th ed, p485; apa, Thesaurus of Psychological Index Terms, 1994)	DOID:4540
MONDO:0003039	nominal aphasia	biolink:Disease	mondo	MESH:D000849|DOID:4541		anomic aphasia (finding)|anomia|anomic aphasia	http://purl.obolibrary.org/obo/MONDO_0003039	Impaired ability to retrieve words; in particular, an inability to recall the names of objects and people.	NCIT:C34386|DOID:4541|MESH:D000849
MONDO:0005695	central nervous system AIDS arteritis	biolink:Disease	mondo	UMLS:C0752331|UMLS:C0752330|UMLS:C0752329|MESH:D020943|EFO:0007198		CNS vasculitis, HIV-associated|HIV-associated CNS vasculitis|vasculitis, HIV-associated CNS|Vasculitides, HIV-associated CNS|CNS Vasculitides, HIV-associated|HIV-associated CNS Vasculitides|HIV 1 associated CNS vasculitis|CNS vasculitis, HIV-1-associated|vasculitis, HIV-1-associated CNS|CNS Vasculitides, HIV-1-associated|Vasculitides, HIV-1-associated CNS|vasculitis of the central nervous system, HIV associated|vasculitis of the central nervous system, HIV-associated|AIDS-associated cerebral aneurysmal arteriopathy|HIV-associated vasculitis of the central nervous system|HIV associated vasculitis of the central nervous system|AIDS associated cerebral aneurysmal arteriopathy|cerebral aneurysmal arteriopathy, AIDS associated|HIV-1-associated CNS vasculitis|HIV-1-associated CNS Vasculitides|central nervous system AIDS arteritis|CNS vasculitis, HIV associated|cerebral aneurysmal arteriopathy, AIDS-associated	http://purl.obolibrary.org/obo/MONDO_0005695	Inflammation of arteries in the central nervous system that occurs in patients with acquired immunodeficiency syndrome or aids-related opportunistic infections.	UMLS:C0752330|UMLS:C0752331|UMLS:C0752329|MESH:D020943
MONDO:0003032	superior vena cava angiosarcoma	biolink:Disease	mondo	DOID:4522|UMLS:C1336530|NCIT:C5378		angiosarcoma (disease) of anterior vena cava|angiosarcoma of Superior vena cava|anterior vena cava angiosarcoma (disease)|angiosarcoma of the Superior vena cava	http://purl.obolibrary.org/obo/MONDO_0003032	A malignant vascular neoplasm arising from the superior vena cava.	DOID:4522|NCIT:C5378|UMLS:C1336530
MONDO:0003033	prostate angiosarcoma	biolink:Disease	mondo	DOID:4524|NCIT:C5528|UMLS:C1335504		angiosarcoma of prostate|hemangiosarcoma of prostate|prostate angiosarcoma|hemangiosarcoma of the prostate|angiosarcoma of the prostate|prostatic hemangiosarcoma|prostatic angiosarcoma|prostate hemangiosarcoma|angiosarcoma (disease) of prostate gland|prostate gland angiosarcoma (disease)	http://purl.obolibrary.org/obo/MONDO_0003033	A malignant vascular neoplasm arising from the prostate.	DOID:4524|NCIT:C5528|UMLS:C1335504
MONDO:0005694	cecal neoplasm	biolink:Disease	mondo	NCIT:C4433|SCTID:126839008|UMLS:C0007528|EFO:0007197|MESH:D002430|DOID:1517		neoplasm of the cecum|neoplasm of cecum|cecum tumor|cecum neoplasm|neoplasm of caecum|tumor of caecum|cecal benign neoplasm|caecum neoplasm (disease)|tumor of the cecum|tumor of cecum|caecum tumor|caecum neoplasm	http://purl.obolibrary.org/obo/MONDO_0005694	A benign or malignant neoplasm that affects the cecum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Cecal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.	SNOMEDCT:126839008|UMLS:C0007528|DOID:1517|NCIT:C4433|MESH:D002430
MONDO:0003034	mediastinum angiosarcoma	biolink:Disease	mondo	DOID:4525|UMLS:C1334649|NCIT:C6613		angiosarcoma (disease) of mediastinum|mediastinal hemangiosarcoma|hemangiosarcoma of mediastinum|angiosarcoma of the mediastinum|hemangiosarcoma of the mediastinum|angiosarcoma of mediastinum|mediastinum angiosarcoma (disease)|mediastinal angiosarcoma	http://purl.obolibrary.org/obo/MONDO_0003034	A malignant vascular neoplasm arising from the mediastinum.	UMLS:C1334649|DOID:4525|NCIT:C6613
MONDO:0005697	cerebral toxoplasmosis	biolink:Disease	mondo	SCTID:192701001|MESH:D016781|EFO:0007200|ICD9:130.0		encephalitis due to acquired toxoplasmosis|Toxoplasma encephalitis|meningoencephalitis due to toxoplasmosis	http://purl.obolibrary.org/obo/MONDO_0005697	Infections of the brain caused by the protozoan toxoplasma gondii that primarily arise in individuals with immunologic deficiency syndromes (see also aids-related opportunistic infections). The infection may involve the brain diffusely or form discrete abscesses. Clinical manifestations include seizures, altered mentation, headache, focal neurologic deficits, and intracranial hypertension. (From Joynt, Clinical Neurology, 1998, Ch27, pp41-3)	SNOMEDCT:192701001|MESH:D016781
MONDO:0005696	central nervous system tuberculosis	biolink:Disease	mondo	ICD9:013.35|ICD9:013.2|COHD:374267|SCTID:186217006|ICD9:013.20|EFO:0007199|DOID:1638|UMLS:C0085388|UMLS:C2607948		tuberculous abscess of brain|tuberculoma of brain|tuberculosis of meninges and central nervous system|central nervous system tuberculosis|intracranial tuberculoma	http://purl.obolibrary.org/obo/MONDO_0005696	A well-circumscribed mass composed of tuberculous granulation tissue that may occur in the cerebral hemispheres, cerebellum, brain stem, or perimeningeal spaces. Multiple lesions are quite common. Management of intracranial manifestations vary with lesion site. Intracranial tuberculomas may be associated with seizures, focal neurologic deficits, and intracranial hypertension. Spinal cord tuberculomas may be associated with localized or radicular pain, weakness, sensory loss, and incontinence. Tuberculomas may arise as opportunistic infections, but also occur in immunocompetent individuals.	UMLS:C0085388|UMLS:C2607948|SNOMEDCT:186217006|DOID:1638
MONDO:0003035	ovarian angiosarcoma	biolink:Disease	mondo	DOID:4527|UMLS:C1335152|NCIT:C5232		hemangiosarcoma of ovary|angiosarcoma of the ovary|hemangiosarcoma of the ovary|angiosarcoma of ovary|angiosarcoma (disease) of ovary|ovarian hemangiosarcoma|ovary angiosarcoma (disease)	http://purl.obolibrary.org/obo/MONDO_0003035	A malignant vascular neoplasm arising from the ovary.	DOID:4527|NCIT:C5232|UMLS:C1335152
MONDO:0005691	cardiovirus infectious disease	biolink:Disease	mondo	UMLS:C0206617|MESH:D018188|EFO:0007194		infections, Cardiovirus|infection, Cardiovirus|Cardiovirus infection	http://purl.obolibrary.org/obo/MONDO_0005691	Infections caused by viruses of the genus cardiovirus, family picornaviridae.	UMLS:C0206617|MESH:D018188
MONDO:0005690	Caplan syndrome	biolink:Disease	mondo	EFO:0007192|MESH:D002205|UMLS:C0006915|SCTID:398640008|DOID:10326		Caplan's disease|Caplan syndrome|Caplan's syndrome|Caplans syndrome|rheumatoid pneumoconiosis	http://purl.obolibrary.org/obo/MONDO_0005690	A combination of rheumatoid arthritis (RA) and pneumoconiosis that manifests as intrapulmonary nodules, which appear homogenous and well-defined on chest X-ray.	SNOMEDCT:398640008|UMLS:C0006915|DOID:10326|MESH:D002205
MONDO:0005693	cauda equina syndrome	biolink:Disease	mondo	ICD10:G83.4|ICD9:344.6|SCTID:192970008|COHD:4102342|UMLS:C0392548|NCIT:C35436|DOID:11577|GARD:0010987|EFO:0007196	gard_rare	syndromic disease of cauda equina|cauda equina syndromic disease	http://purl.obolibrary.org/obo/MONDO_0005693	Cauda equina syndrome refers to a group of symptoms that occur when some of the nerves in the cauda equina (the bundle of nerves that spread out from the bottom of the spinal cord) become compressed and/or damaged. Signs and symptoms of this condition include pain, numbness, or tingling in the lower back and/or legs; ' foot drop '; problems with bowel and/or bladder control; and sexual dysfunction. Cauda equina syndrome may be caused by a herniated disk, tumor, infection, fracture, or spinal stenosis. Treatment usually targets the underlying cause of the condition and often includes surgery to remove the material that is pressing on the nerves. Physical therapy, occupational therapy, and/or other services may be required if symptoms persist following surgery.	NCIT:C35436|SNOMEDCT:192970008|DOID:11577|UMLS:C0392548
MONDO:0003030	endometrioid stromal sarcoma of the cervix	biolink:Disease	mondo	UMLS:C3642326|DOID:4520|NCIT:C40220		endometrioid stromal sarcoma of uterine cervix|endometrioid stromal sarcoma of the cervix|cervical endometrial stromal sarcoma|uterine cervix endometrioid stromal sarcoma|endometrial stromal sarcoma of the cervix	http://purl.obolibrary.org/obo/MONDO_0003030	A rare sarcoma that arises from the cervix. This category includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma.	DOID:4520|UMLS:C3642326|NCIT:C40220
MONDO:0003031	endometrioid stromal and related neoplasms of the cervix	biolink:Disease	mondo	NCIT:C40218|DOID:4521|UMLS:C4289586		cervix endometrial stromal tumor|endometrioid stromal and related neoplasms of the cervix|endometrioid stromal and related tumors of the cervix	http://purl.obolibrary.org/obo/MONDO_0003031	A category of rare neoplasms that arise from the cervix. It includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma.	DOID:4521|UMLS:C4289586|NCIT:C40218
MONDO:0005692	cat-scratch disease	biolink:Disease	mondo	ICD9:078.3|GARD:0000027|COHD:440642|UMLS:C0007361|MESH:D002372|Orphanet:50839|NCIT:C84620|SCTID:79974007|UMLS:CN205187|MedDRA:10007729|DOID:11258|ICD10:A28.1|EFO:0007195	gard_rare|ordo_disease	debre's syndrome|Cat scratch disease|Foshay-Mollaret Cat scratch fever|benign lymphoreticulosis|bartonellosis due to Bartonella henselae infection|Cat-scratch fever|debre-Mollaret syndrome|cat scratch fever	http://purl.obolibrary.org/obo/MONDO_0005692	Cat scratch disease is an infectious illness caused by the bacteria bartonella (Bartonella henselae). It is believed to be transmitted by cat scratches, bites, or exposure to cat saliva. This self-limiting infectious diseaseis characterized by a bump or blister at the site of the bite or scratch and swelling and pain in the lymph nodes. Other features may include fatigue, headache, achiness, and fever. Although cat-scratch disease usually subsides without treatment, antibiotic and/or antimicrobial therapy may help speed recovery.	MEDDRA:10007729|UMLS:C0007361|UMLS:CN205187|DOID:11258|NCIT:C84620|MESH:D002372|SNOMEDCT:79974007|ORPHA:50839
MONDO:0015007	spastic paraplegia, intellectual disability, nystagmus, and obesity;	biolink:Disease	mondo	Orphanet:521390|UMLS:C4284592|OMIM:617296	ordo_malformation_syndrome	SINO|spastic paraplegia, intellectual disability, nystagmus, and obesity|spastic paraplegia, intellectual disability, nystagmus, and obesity; SINO	http://purl.obolibrary.org/obo/MONDO_0015007		ORPHA:521390|UMLS:C4284592|http://identifiers.org/omim/617296
MONDO:0015006	generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss	biolink:Disease	mondo	UMLS:C4310631|OMIM:617294|Orphanet:508529	ordo_disease	epidermolysis bullosa simplex, generalized, with scarring and hair loss; EBSSH|epidermolysis bullosa simplex, generalized, with scarring and hair loss|EBSSH	http://purl.obolibrary.org/obo/MONDO_0015006		UMLS:C4310631|http://identifiers.org/omim/617294|ORPHA:508529
MONDO:0015005	epilepsy, early-onset, vitamin B6-dependent	biolink:Disease	mondo	UMLS:C4310632|OMIM:617290		EPVB6D|epilepsy, early-onset, vitamin B6-dependent|epilepsy, early-onset, vitamin B6-dependent; EPVB6D	http://purl.obolibrary.org/obo/MONDO_0015005		UMLS:C4310632|http://identifiers.org/omim/617290
MONDO:0015004	dystonia 28, childhood-onset	biolink:Disease	mondo	UMLS:C4310633|Orphanet:589618|OMIM:617284	ordo_disease	dystonia 28, childhood-onset; DYT28|KMT2B dystonic disorder|dystonic disorder caused by mutation in KMT2B|dystonia 28, childhood-onset|DYT28	http://purl.obolibrary.org/obo/MONDO_0015004	Any dystonic disorder in which the cause of the disease is a mutation in the KMT2B gene.	ORPHA:589618|UMLS:C4310633|http://identifiers.org/omim/617284
MONDO:0017666	diffuse palmoplantar keratoderma	biolink:Disease	mondo	ICD10:Q82.8|SCTID:400123002|ICD9:757.39|Orphanet:307141|HP:0007435|UMLS:C0022584	ordo_group_of_disorders	diffuse palmoplantar hyperkeratosis|diffuse keratosis palmoplantaris|diffuse PPK	http://purl.obolibrary.org/obo/MONDO_0017666		UMLS:C0022584|ORPHA:307141|SNOMEDCT:400123002
MONDO:0017667	isolated diffuse palmoplantar keratoderma	biolink:Disease	mondo	ICD10:Q82.8|Orphanet:307148	ordo_group_of_disorders	nonsyndromic diffuse palmoplantar keratoderma|isolated diffuse palmoplantar hyperkeratosis|isolated diffuse PPK|isolated diffuse keratosis palmoplantaris	http://purl.obolibrary.org/obo/MONDO_0017667	A diffuse palmoplantar keratoderma that is not part of a larger syndrome.	ORPHA:307148
CHEBI:35820	antiprotozoal drug	biolink:ChemicalSubstance	mondo			antiprotozoal agent|antiprotozoal drugs|antiprotozoal agents	http://purl.obolibrary.org/obo/CHEBI_35820	Any antimicrobial drug which is used to treat or prevent protozoal infections.	
MONDO:0015009	hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to	biolink:Disease	mondo	OMIM:617300	predisposition	hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to; HFASD|hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to|HFASD	http://purl.obolibrary.org/obo/MONDO_0015009		http://identifiers.org/omim/617300
MONDO:0017668	intellectual disability-short stature-hypertelorism syndrome	biolink:Disease	mondo	ICD10:Q87.8|GARD:0003514|Orphanet:3074|UMLS:CN203552	gard_rare|ordo_malformation_syndrome	intellectual disability short stature hypertelorism|Stoll-GC)raudel-Chauvin syndrome|mental retardation short stature hypertelorism|Stoll-Géraudel-Chauvin syndrome|intellectual deficit - short stature - hypertelorism	http://purl.obolibrary.org/obo/MONDO_0017668	Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability affecting males characterized by short stature, mild to moderate intellectual deficits, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia present only until the age of 2. There have been no further descriptions in the literature since the original article in 1991 and it has been suggested that this condition represents an example of FG syndrome.	ORPHA:3074|UMLS:CN203552
MONDO:0017669	disease with diffuse palmoplantar keratoderma as a major feature	biolink:Disease	mondo	UMLS:CN203554|ICD10:Q82.8|Orphanet:307711	ordo_group_of_disorders|obsoletion_candidate	disease with diffuse palmoplantar hyperkeratosis as a major feature	http://purl.obolibrary.org/obo/MONDO_0017669		UMLS:CN203554|ORPHA:307711
MONDO:0015008	amelogenesis imperfecta, type 1J	biolink:Disease	mondo	OMIM:617297		AI1J|amelogenesis imperfecta, type 1J|amelogenesis imperfecta, type Ij	http://purl.obolibrary.org/obo/MONDO_0015008		http://identifiers.org/omim/617297
MONDO:0017662	miscellaneous movement disorder due to genetic neurodegenerative disease	biolink:Disease	mondo	UMLS:CN203549|Orphanet:307058	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017662		ORPHA:307058|UMLS:CN203549
MONDO:0017663	inherited tremor disorder	biolink:Disease	mondo	Orphanet:307064|Orphanet:307061|UMLS:CN227174|UMLS:CN227173	obsoletion_candidate|ordo_group_of_disorders	rare genetic myoclonus	http://purl.obolibrary.org/obo/MONDO_0017663		UMLS:CN227174|UMLS:CN227173|ORPHA:307061|ORPHA:307064
HGNC:9076	PLIN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9076		
MONDO:0017664	obsolete rare genetic myoclonus	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0017664		
MONDO:0017665	rare genetic disease with myoclonus as a major feature	biolink:Disease	mondo	Orphanet:307067|UMLS:CN203550	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017665		UMLS:CN203550|ORPHA:307067
MONDO:0015003	dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	biolink:Disease	mondo	UMLS:C4310634|OMIM:617282|Orphanet:508093	ordo_malformation_syndrome	dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities; DYTOABG|dystonia 29, childhood-onset|dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities|DYTOABG	http://purl.obolibrary.org/obo/MONDO_0015003		UMLS:C4310634|ORPHA:508093|http://identifiers.org/omim/617282
MONDO:0015002	developmental and epileptic encephalopathy, 49	biolink:Disease	mondo	UMLS:C4310635|OMIM:617281|DOID:0080441		early infantile epileptic encephalopathy caused by mutation in DENND5A|epileptic encephalopathy, early infantile, 49|DENND5A early infantile epileptic encephalopathy|EIEE49|DEE49|epileptic encephalopathy, early infantile, 49; EIEE49|epileptic encephalopathy, early infantile, type 49	http://purl.obolibrary.org/obo/MONDO_0015002	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DENND5A gene.	UMLS:C4310635|DOID:0080441|http://identifiers.org/omim/617281
MONDO:0017660	obsolete rare genetic parkinsonian disorder	biolink:Disease	mondo	Orphanet:307052|UMLS:CN227172	ordo_group_of_disorders|obsoletion_candidate	rare genetic hypokinetic movement disorder	http://purl.obolibrary.org/obo/MONDO_0017660		ORPHA:307052|UMLS:CN227172
MONDO:0015001	atrial fibrillation, familial, 18	biolink:Disease	mondo	OMIM:617280|UMLS:C4310636		atrial fibrillation, familial, 18|familial atrial fibrillation caused by mutation in MYL4|MYL4 familial atrial fibrillation|atrial fibrillation, familial, type 18|atrial fibrillation, familial, 18; ATFB18|ATFB18	http://purl.obolibrary.org/obo/MONDO_0015001	Any familial atrial fibrillation in which the cause of the disease is a mutation in the MYL4 gene.	UMLS:C4310636|http://identifiers.org/omim/617280
CHEBI:23849	diterpenoid	biolink:ChemicalSubstance	mondo			diterpenoides|diterpenoids|C20 isoprenoids	http://purl.obolibrary.org/obo/CHEBI_23849	Any terpenoid derived from a diterpene. The term includes compounds in which the C20 skeleton of the parent diterpene has been rearranged or modified by the removal of one or more skeletal atoms (generally methyl groups).	
MONDO:0017661	rare parkinsonian syndrome due to genetic neurodegenerative disease	biolink:Disease	mondo	UMLS:CN203548|Orphanet:307055	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0017661		ORPHA:307055|UMLS:CN203548
MONDO:0015000	developmental and epileptic encephalopathy, 48	biolink:Disease	mondo	DOID:0080448|UMLS:C4310637|OMIM:617276		epileptic encephalopathy, early infantile, type 48|EIEE48|DEE48|early infantile epileptic encephalopathy caused by mutation in AP3B2|epileptic encephalopathy, early infantile, 48|epileptic encephalopathy, early infantile, 48; EIEE48|AP3B2 early infantile epileptic encephalopathy	http://purl.obolibrary.org/obo/MONDO_0015000	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 gene.	UMLS:C4310637|DOID:0080448|http://identifiers.org/omim/617276
MONDO:0054637	Noonan syndrome-like disorder with loose anagen hair 1	biolink:Disease	mondo	OMIM:607721		Noonan syndrome-like disorder with loose anagen hair 1; NSLH1|NSLH1|NSLH|Tosti syndrome	http://purl.obolibrary.org/obo/MONDO_0054637		http://identifiers.org/omim/607721
MONDO:0003007	childhood kidney cell carcinoma	biolink:Disease	mondo	UMLS:C1333001|NCIT:C6568|DOID:4454		pediatric kidney cell carcinoma|renal cell cancer|childhood renal cell carcinoma|childhood renal cell carcinoma (disease)|childhood kidney cell carcinoma|pediatric renal cell carcinoma (disease)|renal cell carcinoma (disease) of childhood|pediatric renal cell carcinoma|pediatric renal cell carcinoma (disease)	http://purl.obolibrary.org/obo/MONDO_0003007	A renal cell carcinoma that occurs during childhood.	NCIT:C6568|UMLS:C1333001|DOID:4454
HGNC:9081	PLOD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9081		
MONDO:0003008	hereditary renal cell carcinoma	biolink:Disease	mondo	MESH:C536851|SCTID:717736007|NCIT:C39789|GARD:0009571|DOID:4455	gard_rare	hereditary renal cell carcinoma|hereditary renal carcinoma|hereditary renal cell carcinoma (disease)|hereditary renal cell cancer|familial renal carcinoma	http://purl.obolibrary.org/obo/MONDO_0003008	An instance of renal cell carcinoma (disease) that is caused by an inherited modification of the individual's genome.	SNOMEDCT:717736007|NCIT:C39789|DOID:4455|MESH:C536851
MONDO:0054636	Skraban-Deardorff syndrome	biolink:Disease	mondo	Orphanet:513456|UMLS:C4539927|OMIM:617616	ordo_disease	Skraban-Deardorff syndrome; SKDEAS|SKDEAS|intellectual disability with seizures, abnormal Gait, and distinctive Facial features	http://purl.obolibrary.org/obo/MONDO_0054636		ORPHA:513456|UMLS:C4539927|http://identifiers.org/omim/617616
MONDO:0005669	black piedra	biolink:Disease	mondo	SCTID:33666009|ICD10:B36.3|DOID:12711|EFO:0007171|ICD9:111.3|UMLS:C0153249			http://purl.obolibrary.org/obo/MONDO_0005669	A superficial mycosis that is caused by Piedraia hortae and is manifested by a small firm black nodule involving the hair shaft.	DOID:12711|UMLS:C0153249|SNOMEDCT:33666009
OBO:mondo#predisposes_towards	predisposes towards	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/mondo#predisposes_towards		
HGNC:9082	PLOD2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9082		
MONDO:0003009	hyperaldosteronism	biolink:Disease	mondo	MESH:D006929|DOID:446|ICD9:255.10|SCTID:88213004|ICD10:E26|COHD:195213|ICD10:E26.9|UMLS:C0020428|ICD9:255.1		Cushing's syndrome|Cushing syndrome|primary hyperaldosteronism	http://purl.obolibrary.org/obo/MONDO_0003009	Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia.	NCIT:C113213|MESH:D006929|SNOMEDCT:88213004|UMLS:C0020428|DOID:446
HGNC:9080	PLN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9080		
MONDO:0003003	cervical alveolar soft part sarcoma	biolink:Disease	mondo	UMLS:C1516408|NCIT:C40225|DOID:4442			http://purl.obolibrary.org/obo/MONDO_0003003	An alveolar soft part sarcoma arising from the cervix.	UMLS:C1516408|NCIT:C40225|DOID:4442
MONDO:0005666	obsolete berylliosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005666		
MONDO:0005665	Bell's palsy	biolink:Disease	mondo	EFO:0007167|ICD9:351.0|NCIT:C26769|COHD:374923|GARD:0005906|ICD10:G51.0|UMLS:C0376175|MESH:D020330|DOID:12506|SCTID:193093009		paralysis Of Facial nerve|Bell's (facial) palsy|facial nerve palsy|facial palsy|palsy of facial nerve|Bell palsy|nerve paralysis, Facial|facial nerve paralysis	http://purl.obolibrary.org/obo/MONDO_0005665	Partial or complete paralysis of the facial muscles of one side of a person's face. It is caused by damage to the seventh cranial nerve. It is usually temporary but it may recur.	UMLS:C0376175|NCIT:C26769|MESH:D020330|SNOMEDCT:193093009|DOID:12506
MONDO:0003004	macular degeneration	biolink:Disease	mondo	NCIT:C123330|SCTID:422338006|MESH:D008268|DOID:4448|UMLS:C0024437		macula lutea retinal degeneration|macular degeneration of retina|retinal degeneration of macula lutea|macula retinal degeneration	http://purl.obolibrary.org/obo/MONDO_0003004	Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration.	NCIT:C123330|SNOMEDCT:422338006|MESH:D008268|DOID:4448|UMLS:C0024437
HGNC:9086	PLP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9086		
MONDO:0005668	bird fancier's lung	biolink:Disease	mondo	UMLS:C0005592|ICD10:J67.2|Orphanet:99908|ICD9:495.2|MedDRA:10004941|EFO:0007170|NCIT:C34425|SCTID:69339004|MESH:D001716|DOID:13891	ordo_disease	bird fancier lung|bird-breeder's lung|pigeon breeder's lung|pigeon-breeder's lung|poultry worker's lung|pigeon-breeder lung disease|bird breeder's lung|Avian hypersensitivity pneumonitis|bird-fanciers' lung|bird fancier's lung|bird-fancier's lung	http://purl.obolibrary.org/obo/MONDO_0005668	Hypersensitivity granulomatous pneumonitis caused by the inhalation of avian antigens that are present in the dust of the droppings and feathers of many species of birds. In the acute phase it manifests as fever, chills, dyspnea, cough, and chest tightness. Chronic exposure may lead to interstitial lung fibrosis.	UMLS:C0005592|MESH:D001716|UMLS:C0031903|NCIT:C34425|ORPHA:99908|DOID:13891|MEDDRA:10004941|SNOMEDCT:69339004
MONDO:0003005	macular retinal edema	biolink:Disease	mondo	UMLS:C0271051|SCTID:37231002|DOID:4449|NCIT:C35468		macular edema|edema, macular|retinal edema of macula lutea|macula lutea retinal edema	http://purl.obolibrary.org/obo/MONDO_0003005	Accumulation of intraretinal fluid and protein in the macula, which may result in swelling and decreased central vision.	UMLS:C0271051|NCIT:C35468|SNOMEDCT:37231002|DOID:4449
HGNC:9083	PLOD3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9083		
MONDO:0005667	biliary dyskinesia	biolink:Disease	mondo	DOID:4140|HP:0012396|UMLS:C0005416|MESH:D001657|SCTID:197432008|ICD9:575.8|EFO:0007169		sphincter of Oddi dysfunction	http://purl.obolibrary.org/obo/MONDO_0005667	A motility disorder characterized by biliary colic, absence of gallstones, and an abnormal gallbladder ejection fraction. It is caused by gallbladder dyskinesia and/or sphincter of oddi dysfunction.	UMLS:C0005416|MESH:D001657|DOID:4140|SNOMEDCT:197432008
MONDO:0003006	obsolete Bartter disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003006		
MONDO:0005662	balantidiasis	biolink:Disease	mondo	MedDRA:10004080|EFO:0007163|ICD10:A07.0|DOID:12386|NCIT:C84583|Orphanet:1223|SCTID:57725006|MESH:D001447|UMLS:C0004692|GARD:0000809|ICD9:007.0	ordo_disease|gard_rare	Human balantidiasis|Balantidiases|B coli infection|ciliary dysentery|balantidiosis|large-intestinal infection with Balantidium coli|Balantidium coli infection	http://purl.obolibrary.org/obo/MONDO_0005662	Infection by parasites of the genus balantidium. The presence of Balantidium in the large intestine leads to diarrhea; dysentery; and occasionally ulcer.	NCIT:C84583|UMLS:C0004692|SNOMEDCT:57725006|MESH:C531629|MESH:D001447|ORPHA:1223|MEDDRA:10004080|UMLS:C0276786|DOID:12386
MONDO:0005661	babesiosis	biolink:Disease	mondo	ICD10:B60.0|MESH:D001404|MedDRA:10003965|COHD:439730|DOID:9643|EFO:0007162|NCIT:C84581|Orphanet:108|GARD:0005878|UMLS:C0004576|SCTID:21061004|ICD9:088.82	ordo_disease|gard_rare	Babesia disease or disorder|babesiasis|Human babesiosis|infection by Babesia|Babesia infectious disease|piroplasmosis|Babesia caused disease or disorder|Babesia parasite infection	http://purl.obolibrary.org/obo/MONDO_0005661	Babesiosis refers to a condition caused by microscopic parasites that infect the red blood cells. Many people who are infected with Babesia parasites do not experience any symptoms of the condition. When present, signs and symptoms may include flu-like symptoms such as fever, chills, headache, body aches, nausea and fatigue. In severe cases, babesiosis can be associated with hemolytic anemia. Babesia parasites are primarily spread by infected ticks. Treatment is generally only required in people who develop symptoms of the condition. When necessary, affected people are often prescribed a combination of antimicrobial medications along with supportive care to manage symptoms.	UMLS:C0004576|MESH:D001404|ORPHA:108|SNOMEDCT:21061004|MEDDRA:10003965|DOID:9643|NCIT:C84581
MONDO:0003000	central nervous system germ cell tumor	biolink:Disease	mondo	DOID:4439|NCIT:C5461|UMLS:C1332880		germ cell tumor of central nervous system|germ cell tumor of the central nervous system|central nervous system rare germ cell tumor|germ cell tumor of CNS|central nervous system germ cell tumor|central nervous system germ cell neoplasm|CNS germ cell neoplasm|germ cell neoplasm of the CNS|germ cell neoplasm of CNS|CNS germ cell tumor|germ cell neoplasm of central nervous system|germ cell neoplasm of the central nervous system|germ cell tumor of the CNS	http://purl.obolibrary.org/obo/MONDO_0003000	A unique group of rare tumors of the central nervous system that affect mainly children and adolescents. Their morphologic and biologic profile corresponds to that of homologous germ cell tumors that arise in the gonads and in other extragonadal sites. Representative examples include: germinoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma.	DOID:4439|UMLS:C1332880|NCIT:C5461
MONDO:0005664	bartonellosis	biolink:Disease	mondo	UMLS:C0004771|ICD10:A44|EFO:0007166|MESH:D001474|NCIT:C84586|DOID:11102|SCTID:266123003|ICD10:A44.9|ICD9:088.0|COHD:440330		Bartonella caused disease or disorder|Bartonella disease or disorder|Rochalimaea infection|Rochalimaea infection (disorder)|Bartonella infection|Bartonella infectious disease|bartonelliasis|Rochalimaea infections	http://purl.obolibrary.org/obo/MONDO_0005664	An infectious disease produced by bacteria of the genus Bartonella.	SNOMEDCT:266123003|NCIT:C84586|UMLS:C0004771|MESH:D001474|DOID:11102
MONDO:0003001	seminoma	biolink:Disease	mondo	NCIT:C9309|ONCOTREE:SEM|SCTID:443675005|MESH:D018239|ICDO:9061/3|DOID:4440|ICD9:186.9		seminoma|seminoma, malignant|seminoma, pure	http://purl.obolibrary.org/obo/MONDO_0003001	A radiosensitive malignant germ cell tumor found in the testis (especially undescended), and extragonadal sites (anterior mediastinum and pineal gland). It is characterized by the presence of uniform cells with clear or dense cytoplasm which contains glycogen, and by a large nucleus which contains one or more nucleoli. The neoplastic germ cells form aggregates separated by fibrous septa. The fibrous septa contain chronic inflammatory cells, mainly lymphocytes.	NCIT:C9309|DOID:4440|SNOMEDCT:443675005|MESH:D018239
MONDO:0005663	Barre-Lieou syndrome	biolink:Disease	mondo	UMLS:C2355645|EFO:0007165|MESH:D055010|SCTID:17300000|DOID:6692|ICD10:M53.0|UMLS:C0376378|NCIT:C34411|ICD9:723.2|COHD:81660		Cervicocranial syndrome|posterior cervical sympathetic syndrome	http://purl.obolibrary.org/obo/MONDO_0005663	A neurologic syndrome following injury of the spinal sympathetic nerves of the neck. The injury usually results from arthritis or pinching by the adjacent vertebrae. Symptoms include facial pain, chronic allergies, dizziness, neck pain, ear pain and vertigo.	UMLS:C0376378|MESH:D055010|DOID:6692|NCIT:C34411|SNOMEDCT:17300000|UMLS:C2355645
MONDO:0003002	dysgerminoma (disease)	biolink:Disease	mondo	MESH:D004407|NCIT:C2996|ICDO:9060/3|HP:0100621|UMLS:C0013377|DOID:4441		dysgerminoma, malignant|dysgerminoma	http://purl.obolibrary.org/obo/MONDO_0003002	A malignant germ cell tumor characterized by the presence of a monotonous primitive germ cell population. The neoplastic cells form aggregates and have an abundant pale cytoplasm and uniform nuclei. The aggregates of the germ cells are separated by fibrous septa which contain inflammatory cells, mostly T-lymphocytes. It arises primarily in the ovaries, but can occur both primarily and secondarily at other sites, particularly the central nervous system. It responds to chemotherapy and radiotherapy. Its prognosis is related to the tumor stage.	MESH:D004407|UMLS:C0013377|NCIT:C2996|DOID:4441
MONDO:0005660	Avulavirus infectious disease	biolink:Disease	mondo	EFO:0007161|UMLS:C1258034|MESH:D045463			http://purl.obolibrary.org/obo/MONDO_0005660	Infections with viruses of the genus avulavirus, family paramyxoviridae. This includes newcastle disease and other infections of domestic fowl.	MESH:D045463|UMLS:C1258034
MONDO:0017659	sporadic hyperekplexia	biolink:Disease	mondo	Orphanet:306776|ICD10:G25.8	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017659		ORPHA:306776
MONDO:0017655	obsolete progressive epilepsy and/or ataxia with myoclonus as a major feature	biolink:Disease	mondo	Orphanet:306762	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017655		ORPHA:306762
MONDO:0017656	motor stereotypies	biolink:Disease	mondo	Orphanet:306765	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017656		ORPHA:306765
MONDO:0017657	rare paroxysmal movement disorder	biolink:Disease	mondo	UMLS:CN227171|Orphanet:306768	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017657		UMLS:CN227171|ORPHA:306768
MONDO:0017658	hyperekplexia	biolink:Disease	mondo	Orphanet:306773|ICD10:G25.8	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017658	A neurologic disorder classically characterised by pronounced startle responses to tactile or acoustic stimuli and hypertonia	ORPHA:306773
MONDO:0017651	primary myoclonus	biolink:Disease	mondo	Orphanet:306750	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017651		ORPHA:306750
MONDO:0017652	rare disease with myoclonus as a major feature	biolink:Disease	mondo	UMLS:CN203543|Orphanet:306753	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017652		UMLS:CN203543|ORPHA:306753
MONDO:0017653	obsolete epilepsy and/or ataxia with myoclonus as major feature	biolink:Disease	mondo	Orphanet:306756	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017653		ORPHA:306756
FOODON:00003318	echinoderm food product	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00003318		
MONDO:0017654	obsolete non progressive epilepsy and/or ataxia with myoclonus as a major feature	biolink:Disease	mondo	Orphanet:306759	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017654		ORPHA:306759
CHEBI:60809	adjuvant	biolink:ChemicalSubstance	mondo			adjuvants	http://purl.obolibrary.org/obo/CHEBI_60809	Any pharmacological or immunological agent that modifies the effect of other agents such as drugs or vaccines while having few if any direct effects when given by itself.	
MONDO:0017650	obsolete rare myoclonus	biolink:Disease	mondo	Orphanet:306747|UMLS:CN227170	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017650		UMLS:CN227170|ORPHA:306747
NCBITaxon:10880	Reoviridae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_10880		
MONDO:0003018	obsolete myotonic disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003018		
MONDO:0003019	potassium deficiency disease	biolink:Disease	mondo	MESH:D007008|UMLS:C1514284|ICD10:E87.6|NCIT:C34939|ICD9:276.8|HP:0002900|DOID:4500|SCTID:43339004|COHD:437833		potassium deficiency disorder|hypopotassemia|hypokalemia	http://purl.obolibrary.org/obo/MONDO_0003019	Any disorder caused by an insufficient amount or availability of potassium, which generally manifests with myalgia, tetany, hypotension, polyuria, and polydipsia.	NCIT:C37974|UMLS:C1514284|MESH:D007008|DOID:4500|NCIT:C34939|SNOMEDCT:43339004
HGNC:27337	ANO5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/27337		
MONDO:0003014	rhinitis	biolink:Disease	mondo	NCIT:C34986|ICD10:J30|SCTID:70076002|UMLS:C0035455|MESH:D012220|EFO:0008521|DOID:4483		nasal cavity mucosa inflammation|inflammation of nasal cavity mucosa|runny nose	http://purl.obolibrary.org/obo/MONDO_0003014	An inflammation of the mucous membrane lining the nose, usually associated with nasal discharge.	MESH:D012220|DOID:4483|NCIT:C34986|UMLS:C0035455|SNOMEDCT:70076002
MONDO:0005677	Rickettsia conorii infectious disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005677		
MONDO:0005676	borna disease	biolink:Disease	mondo	DOID:5154|MESH:D001890|UMLS:C0006023|EFO:0007178		enzootic encephalomyelitis	http://purl.obolibrary.org/obo/MONDO_0005676	An encephalomyelitis of horses, sheep and cattle caused by borna disease virus.	DOID:5154|MESH:D001890|UMLS:C0006023
MONDO:0003015	obsolete malignant biphasic mesothelioma	biolink:Disease	mondo			malignant biphasic mesothelioma, malignant	http://purl.obolibrary.org/obo/MONDO_0003015	A malignant form of malignant biphasic mesothelioma.	
MONDO:0005679	bovine virus diarrhea-mucosal disease	biolink:Disease	mondo	EFO:0007181|MESH:D001912|UMLS:C0006075			http://purl.obolibrary.org/obo/MONDO_0005679	Acute disease of cattle caused by the bovine viral diarrhea viruses (diarrhea viruses, bovine viral). Often mouth ulcerations are the only sign but fever, diarrhea, drop in milk yield, and loss of appetite are also seen. Severity of clinical disease varies and is strain dependent. Outbreaks are characterized by low morbidity and high mortality.	MESH:D001912|UMLS:C0006075
MONDO:0003016	obsolete sarcomatoid mesothelioma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003016		
MONDO:0003017	malignant peritoneal solitary fibrous tumor	biolink:Disease	mondo	DOID:4490		peritoneal solitary fibrous tumor, malignant|pleural and peritoneal solitary fibrous tumor	http://purl.obolibrary.org/obo/MONDO_0003017	A malignant form of peritoneal solitary fibrous tumor.	DOID:4490
MONDO:0005678	bovine respiratory disease complex	biolink:Disease	mondo	EFO:0007180|UMLS:C1449809|MESH:D048090			http://purl.obolibrary.org/obo/MONDO_0005678	A multifactorial disease of cattle resulting from complex interactions between environmental factors, host factors, and pathogens. The environmental factors act as stressors adversely affecting the immune system and other host defenses and enhancing transmission of infecting agents.	UMLS:C1449809|MESH:D048090
MONDO:0005673	blind loop syndrome	biolink:Disease	mondo	EFO:0007175|UMLS:C0005750|COHD:196732|SCTID:66379009|DOID:10606|MESH:D001765|ICD10:K90.2|NCIT:C34431|ICD9:579.2		stasis (blind loop) syndrome|bacterial overgrowth syndrome|stasis syndrome|blind loop syndrome	http://purl.obolibrary.org/obo/MONDO_0005673	A disorder affecting the small intestine. It is caused by the stasis of food and subsequent overgrowth of bacteria in a portion of the small intestine that is unintentionally bypassed as a complication of abdominal surgery or as a sequela of gastrointestinal disorders which impede effective motility. Clinical signs include bloating, abdominal pain, diarrhea and weight loss. If untreated, the clinical course progresses to malabsorption of fats, vitamin B12 and calcium, the latter which predisposes to nephrolithiasis and osteoporosis.	MESH:D001765|NCIT:C34431|SNOMEDCT:66379009|UMLS:C0005750|DOID:10606
MONDO:0003010	multilocular clear cell renal cell carcinoma	biolink:Disease	mondo	NCIT:C4524|SCTID:254916002|ICD9:189.0|Orphanet:319287|ICDO:8316/3|UMLS:C0346249|ICD10:C64|DOID:4463	ordo_histopathological_subtype	multilocular clear cell renal cell carcinoma|multilocular cystic clear cell renal cell neoplasm of low malignant potential|multilocular clear cell adenocarcinoma|multilocular clear cell renal cell adenocarcinoma|MCRCC|multilocular cystic renal neoplasm of low malignant potential|multilocular clear cell carcinoma|renal cystadenocarcinoma|multilocular cystic renal cell cancer|multilocular cystic renal cell adenocarcinoma|cystadenocarcinoma of kidney|multilocular cystic renal cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0003010	A rare type of renal cell carcinoma. It is a well-circumscribed multicystic mass without solid areas. The inner lining of the cystic structures is composed of clear cells.	UMLS:C0346249|DOID:4463|SNOMEDCT:254916002|ORPHA:319287|NCIT:C4524
MONDO:0003011	mucinous tubular and spindle renal cell carcinoma	biolink:Disease	mondo	SCTID:764990003|ONCOTREE:MTSCC|Orphanet:319322|UMLS:C1513719|UMLS:CN203939|ICD10:C64|DOID:4472|NCIT:C39807|ICDO:0000/0	ordo_disease	mucinous tubular and spindle cell renal carcinoma|mucinous tubular and spindle cell carcinoma of the kidney|carcinoma, renal, tubular, malignant|renal mucinous tubular spindle cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0003011	A low grade carcinoma of the kidney characterized by the presence of tubules which are separated by mucinous stroma. Often the tubular structures have a spindle cell appearance. Patients are usually asymptomatic and occasionally they may present with hematuria or flank pain.	ORPHA:319322|UMLS:CN203939|SNOMEDCT:764990003|UMLS:C1513719|DOID:4472|NCIT:C39807
MONDO:0005672	blastomycosis	biolink:Disease	mondo	EFO:0007174|SCTID:191950004|CSP:1988-4119|ICD10:B40|DOID:12663|ICD9:116.0|ICD9:116|MESH:D001759|GARD:0005931|ICD10:B40.9|COHD:433146|NCIT:C34429|UMLS:C0005717|UMLS:C0005716	gard_rare	blastomycotic infection|Blastomyces dermatitidis infectious disease|Blastomyces dermatitidis caused disease or disorder|Gilchrist's disease|infection by Blastomyces dermatitidis|Chicago disease|Blastomyces dermatitidis infection|North American blastomycosis|Blastomyces dermatitidis disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005672	Blastomycosis is a rare infection that may develop when people inhale a fungus called Blastomyces dermatitidis, a fungus that is found in moist soil, particularly where there is rotting vegetation. The fungus enters the body through the lungs, infecting them. The fungus then spreads to other areas of the body.The infection may affect the skin, bones and joints, and other areas. The disease usually affects people with weakened immune systems, such as those with HIV or who have had an organ transplant.	SNOMEDCT:191950004|MESH:D001759|NCIT:C34429|DOID:12663|UMLS:C0005716|UMLS:C0005717
MONDO:0003012	sarcomatoid renal cell carcinoma	biolink:Disease	mondo	NCIT:C27893|UMLS:C1266043|ONCOTREE:SRCC|DOID:4473|ICDO:8318/3		renal cell carcinoma with sarcomatoid features|SRCC|sarcomatoid renal cell carcinoma|sarcomatoid renal cell cancer|RCC w/ sarcomatoid features|renal cell carcinoma, spindle cell	http://purl.obolibrary.org/obo/MONDO_0003012	A high grade carcinoma of the kidney. It is not a distinct clinicopathological entity and includes a diverse group of renal cell carcinomas which have been transformed from a lower to a higher grade.	UMLS:C1266043|DOID:4473|NCIT:C27893
MONDO:0005675	border disease	biolink:Disease	mondo	UMLS:C0006008|MESH:D001882|EFO:0007177			http://purl.obolibrary.org/obo/MONDO_0005675	Congenital disorder of lambs caused by a virus closely related to or identical with certain strains of bovine viral diarrhea virus.	MESH:D001882|UMLS:C0006008
MONDO:0005674	bone giant cell tumor	biolink:Disease	mondo	UMLS:C0206638|Orphanet:363976|ONCOTREE:GCTB|HP:0011847|NCIT:C121932|ICD10:D48.0|SCTID:697970009|GARD:0013046|DOID:4305|MESH:D018212|EFO:0007176	ordo_disease	giant cell tumor, benign|giant cell tumor of bone|giant cell myeloma|benign bone giant cell tumor|Osteoclastoma, benign|GCT of bone|giant cell tumor of the bone|osteoclastoma|giant cell tumor of bone NOS (morphologic abnormality)|giant cell neoplasm of bone|giant cell tumor of bone (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0005674	A benign but locally aggressive tumor that arises from the bone and is composed of mononuclear cells admixed with macrophages and osteoclast-like giant cells. It usually arises from the ends of long bones or the vertebrae. Clinical presentation includes pain, edema, and decreased range of motion in the affected joint.	SNOMEDCT:697970009|DOID:4305|ORPHA:363976|NCIT:C121932|UMLS:C0206638|MESH:D018212
MONDO:0003013	obsolete pseudohypoaldosteronism	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003013		
MONDO:0005671	Blastocystis infectious disease	biolink:Disease	mondo	EFO:0007173|MESH:D016776|SCTID:721809007		infection, Blastocystis|Blastocystis infection|infections, Blastocystis	http://purl.obolibrary.org/obo/MONDO_0005671	Infections with organisms of the genus blastocystis. The species B. hominis is responsible for most infections. Parasitologic surveys have generally found small numbers of this species in human stools, but higher positivity rates and organism numbers in aids patients and other immunosuppressed patients (immunocompromised host). Symptoms include abdominal pain; diarrhea; constipation; vomiting; and fatigue.	SNOMEDCT:721809007|MESH:D016776
MONDO:0005670	blackwater fever	biolink:Disease	mondo	EFO:0007172|NCIT:C34426|DOID:14068|SCTID:56625005|UMLS:C0005681|MESH:D001742|ICD9:084.8		hemoglobinuric, malaria|blackwater fever|Black water fever|malarial hemoglobinuria	http://purl.obolibrary.org/obo/MONDO_0005670	A complication of malaria resulting from hemolysis.	DOID:14068|NCIT:C34426|MESH:D001742|SNOMEDCT:56625005|UMLS:C0005681
UBERON:0002294	biliary system	biolink:AnatomicalEntity	mondo			biliary tract|biliary apparatus	http://purl.obolibrary.org/obo/UBERON_0002294	Organ system subdivision that consists of the organs and ducts that are involved in the production and transportation of bile. In most species this is the gallbladder and the bile ducts (biliary tree).	
MONDO:0017648	Sydenham chorea	biolink:Disease	mondo	ICD10:I02.0|MedDRA:10042732|Orphanet:306731|ICD10:I02.9|GARD:0007716	ordo_clinical_situation		http://purl.obolibrary.org/obo/MONDO_0017648		MEDDRA:10042732|ORPHA:306731
MONDO:0017649	hemidystonia-hemiatrophy syndrome	biolink:Disease	mondo	Orphanet:306741|UMLS:CN203542	ordo_disease	HD-HA syndrome	http://purl.obolibrary.org/obo/MONDO_0017649	Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD.	UMLS:CN203542|ORPHA:306741
UBERON:0002293	costochondral joint	biolink:AnatomicalEntity	mondo			chondrocostal synchondrosis|articulationes costochondrales|costochondral synchondrosis|articulatio costochondralis|costochondral junction	http://purl.obolibrary.org/obo/UBERON_0002293	A bars of hyaline cartilage located between the distal part of a rib and a costal cartilage, connecting the ribs to the sternum .	
UBERON:0002296	dorsal mesentery	biolink:AnatomicalEntity	mondo			dorsal mesogastrium|mesenterium dorsale commune	http://purl.obolibrary.org/obo/UBERON_0002296	The mesentery that originates from the dorsal side of the peritoneal cavity[ZFA].	
UBERON:0002290	choroid plexus of fourth ventricle	biolink:AnatomicalEntity	mondo			fourth ventricle choroid plexus|fourth ventricle chorioid plexus of cerebral hemisphere|choroid plexus fourth ventricle|4th ventricle choroid plexus|chorioid plexus of cerebral hemisphere of fourth ventricle|chorioid plexus of fourth ventricle	http://purl.obolibrary.org/obo/UBERON_0002290	Choroid plexus of the fourth ventricle	
MONDO:0017644	obsolete rare tremor disorder	biolink:Disease	mondo	UMLS:CN227168|Orphanet:306712	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017644		UMLS:CN227168|ORPHA:306712
MONDO:0017645	obsolete rare choreic movement disorder	biolink:Disease	mondo	Orphanet:306715	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017645		ORPHA:306715
MONDO:0017646	neurodegenerative disease with chorea	biolink:Disease	mondo	UMLS:CN203538|Orphanet:306719	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017646		UMLS:CN203538|ORPHA:306719
UBERON:0002291	central canal of spinal cord	biolink:AnatomicalEntity	mondo			spinal cord central canal|central canal, spinal cord/medulla|central canal|central canal of spinal cord|ventricle of spinal cord|canalis centralis	http://purl.obolibrary.org/obo/UBERON_0002291	Spinal cord structure that is part of the ventricular system and is filled with cerebral-spinal fluid and runs the length of the spinal cord.	
MONDO:0017647	postinfectious autoimmune disease with chorea	biolink:Disease	mondo	UMLS:CN203539|Orphanet:306727	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017647		UMLS:CN203539|ORPHA:306727
MONDO:0017640	cyanide-induced parkinsonism	biolink:Disease	mondo	ICD10:G21.2|SCTID:766872002|UMLS:CN203536|Orphanet:306692	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017640	Cyanide-induced parkinsonism is a rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum.	UMLS:CN203536|ORPHA:306692|SNOMEDCT:766872002
MONDO:0017641	miscellaneous movement disorder due to neurodegenerative disease	biolink:Disease	mondo	Orphanet:306695|UMLS:CN203537	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017641		UMLS:CN203537|ORPHA:306695
MONDO:0017642	intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome	biolink:Disease	mondo	ICD10:Q87.8|Orphanet:3067|UMLS:CN227166	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0017642		ORPHA:3067|UMLS:CN227166
CHEBI:23824	diol	biolink:ChemicalSubstance	mondo			diols	http://purl.obolibrary.org/obo/CHEBI_23824	A compound that contains two hydroxy groups, generally assumed to be, but not necessarily, alcoholic. Aliphatic diols are also called glycols.	
MONDO:0017643	frontotemporal neurodegeneration with movement disorder	biolink:Disease	mondo	Orphanet:306708|UMLS:CN227167	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017643		UMLS:CN227167|ORPHA:306708
HGNC:30972	SECISBP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30972		
UBERON:0002298	brainstem	biolink:AnatomicalEntity	mondo			truncus encephali|lamella pallidi incompleta|lamina pallidi incompleta|brain stem|lamina medullaris incompleta pallidi|accessory medullary lamina of pallidum|lamina medullaris accessoria|truncus encephalicus	http://purl.obolibrary.org/obo/UBERON_0002298	Stalk-like part of the brain that includes amongst its parts the medulla oblongata of the hindbrain and the tegmentum of the midbrain[ZFA,MP,generalized].	
UBERON:0002299	alveolus of lung	biolink:AnatomicalEntity	mondo			alveolus pulmonis|lung alveolus|pulmonary alveolus|alveoli|respiratory alveolus|alveolus pulmonis|alveolus|respiratory alveoli	http://purl.obolibrary.org/obo/UBERON_0002299	Spherical outcropping of the respiratory bronchioles and primary site of gas exchange with the blood. Alveoli are particular to mammalian lungs. Different structures are involved in gas exchange in other vertebrates[WP].	
MONDO:0030604	cystic partially differentiated nephroblastoma	biolink:Disease	mondo	ICDO:8959/3|DOID:7571|ICDO:8959/1|NCIT:C6897|UMLS:C1266139		malignant cystic nephroma|malignant multilocular cystic nephroma|cystic partially differentiated nephroblastoma	http://purl.obolibrary.org/obo/MONDO_0030604	A variant of Wilms tumor of the kidney characterized by the presence of cystic spaces separated by septa. The septa contain immature epithelial cells, immature stromal cells, and blastema cells. Surgical resection is usually curative.	DOID:7571|UMLS:C1266139|NCIT:C6897
MONDO:0030603	Klebsiella infectious disease	biolink:Disease	mondo	MESH:D007710|SCTID:721756002|EFO:1001353|GARD:0010085		Klebsiella caused disease or disorder|infection, Klebsiella|infections, Klebsiella|Klebsiella infection|Klebsiella disease or disorder	http://purl.obolibrary.org/obo/MONDO_0030603	Infections with bacteria of the genus KLEBSIELLA.	SNOMEDCT:721756002|MESH:D007710
MONDO:0015050	esophageal duplication cyst	biolink:Disease	mondo	ICD10:Q39.8|Orphanet:100047|SCTID:721161005	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0015050	Esophageal duplication cyst is a rare, congenital, non-syndromic esophageal malformation, most frequently located in the distal esophagus and usually diagnosed in childhood, characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, are continuous or contiguous to the esophagus and may, or may not, communicate with the esophageal lumen. Patients are frequently asymptomatic, or could present with a wide range of symptoms including respiratory distress, failure to thrive, dysphagia, epigastric discomfort, vomiting, stridor, non-productive cough, and chest pain. Other more rare symptoms, such as cardiac arrhythmia, thoracic back pain, cystic hemorrgage and ulceration, and mediastinitis, have also been reported.	SNOMEDCT:721161005|ORPHA:100047
MONDO:0003069	suppurative lymphadenitis	biolink:Disease	mondo	ICD9:457.8|NCIT:C27135|SCTID:48573006|UMLS:C0392051|DOID:4639		suppurative lymphadenopathy	http://purl.obolibrary.org/obo/MONDO_0003069	A form of lymphadenitis that is characterized by formation of pus; it is most often caused by staphylococcal or streptococcal bacteria.	DOID:4639|NCIT:C27135|SNOMEDCT:48573006|UMLS:C0392051
MONDO:0030602	Klebsiella pneumonia	biolink:Disease	mondo	ICD9:482.0|SCTID:64479007|UMLS:C0519030|DOID:13272|ICD10:J15.0		pneumonia due to Klebsiella pneumoniae|pneumonia due to Klebsiella pneumoniae (disorder)|Klebsiella caused pneumonia|pneumonia caused by Klebsiella pneumoniae	http://purl.obolibrary.org/obo/MONDO_0030602	An pneumonia caused by infection with Klebsiella.	SNOMEDCT:64479007|UMLS:C0519030|DOID:13272
MONDO:0003065	nasal cavity inverting papilloma	biolink:Disease	mondo	NCIT:C8194|UMLS:C0280336|DOID:4633		inverting papilloma of nasal cavity|inverting papilloma of the nasal cavity|nasal cavity Schneiderian papilloma, inverted type|nasal cavity inverted papilloma	http://purl.obolibrary.org/obo/MONDO_0003065	A benign neoplasm that arises from the ciliated respiratory mucosa that lines the nasal cavity. It results from the invagination and proliferation of epithelial cells in the underlying stroma. Clinical manifestations include nasal obstruction, epistaxis, and anosmia. It has the tendency to recur and extend to adjacent structures. Inverted papillomas are occasionally associated with the development or presence of carcinomas, usually squamous cell carcinomas.	DOID:4633|UMLS:C0280336|NCIT:C8194
MONDO:0003066	submandibular adenitis	biolink:Disease	mondo	NCIT:C27016|DOID:4636|UMLS:C0235591|SCTID:15170009		submandibular gland lymphadenitis (disease)|lymphadenitis (disease) of submandibular gland|submandibular lymphadenitis	http://purl.obolibrary.org/obo/MONDO_0003066	Inflammation of the submandibular lymph nodes.	UMLS:C0235591|DOID:4636|SNOMEDCT:15170009|NCIT:C27016
MONDO:0003067	cervical lymphadenitis	biolink:Disease	mondo	UMLS:C0149642|SCTID:3502005|NCIT:C26937|DOID:4637		cervical adenitis|lymphadenitis (disease) of neck|neck lymphadenitis (disease)	http://purl.obolibrary.org/obo/MONDO_0003067	Inflammation of the cervical lymph nodes.	DOID:4637|NCIT:C26937|UMLS:C0149642|SNOMEDCT:3502005
MONDO:0003068	postauricular lymphadenitis	biolink:Disease	mondo	NCIT:C27332|DOID:4638|UMLS:C0919638		lymphadenitis (disease) of mastoid lymph node|mastoid lymph node lymphadenitis (disease)	http://purl.obolibrary.org/obo/MONDO_0003068	Inflammation of the postauricular lymph nodes.	DOID:4638|NCIT:C27332|UMLS:C0919638
MONDO:0003061	benign muscle neoplasm	biolink:Disease	mondo	ICDO:8895/0|MESH:D009214|DOID:2691|DOID:461|ICD10:D21|NCIT:C4882		neoplasm of muscle|muscle neoplasm|muscle tissue neoplasm|benign tumor of muscle|benign tumor of the muscle|benign neoplasm of muscle|benign muscle neoplasm|benign neoplasm of the muscle|benign muscle tumor|muscle benign neoplasm|myomatous tumor|myoma|myomatous neoplasm	http://purl.obolibrary.org/obo/MONDO_0003061	A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue.	DOID:2691|NCIT:C4882|MESH:D009214|DOID:461
MONDO:0003062	intestinal benign neoplasm	biolink:Disease	mondo	NCIT:C4609|UMLS:C0347269|SCTID:92151003		benign intestinal neoplasms|benign intestine tumor|intestinal neoplasms, benign|benign neoplasms of large and/or small intestine|benign intestine neoplasm|benign neoplasms of the large and/or small intestine|benign tumor of intestines|benign tumor of the intestines|intestinal tumors, benign|benign intestinal neoplasm|benign neoplasm of intestines|benign neoplasm of the intestines|benign intestinal tumors|intestine benign neoplasm|benign intestinal tumor	http://purl.obolibrary.org/obo/MONDO_0003062	A benign neoplasm that involves the intestine.	SNOMEDCT:92151003|UMLS:C0347269|NCIT:C4609
HGNC:27302	IBA57	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/27302		
MONDO:0003063	obsolete hydranencephaly	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003063		
MONDO:0003064	inverted transitional cell papilloma	biolink:Disease	mondo	DOID:4630|NCIT:C4118|UMLS:C0334269|ICDO:8121/1		inverted transitional papilloma|inverted transitional cell papilloma|transitional papilloma, inverted	http://purl.obolibrary.org/obo/MONDO_0003064	A benign papillary neoplasm composed of transitional cells and characterized by an endophytic growth pattern.	DOID:4630|NCIT:C4118|UMLS:C0334269
MONDO:0003060	biliary tract cancer	biolink:Disease	mondo	DOID:4607|ICD9:156.9|ICD10:C24.9|GARD:0005924	gard_rare	cancer of biliary tree|biliary tree cancer|malignant biliary tree neoplasm|malignant neoplasm of biliary tree|malignant tumour of biliary tract	http://purl.obolibrary.org/obo/MONDO_0003060	A malignant neoplasm involving the biliary tree	DOID:4607
MONDO:0015059	progressive non-fluent aphasia	biolink:Disease	mondo	SCTID:716281000|MedDRA:10029542|GARD:0010793|NCIT:C85025|MESH:D057178|Orphanet:100070|ICD10:G31.0	ordo_disease|gard_rare	Primary Progressive Nonfluent aphasia|non-fluent variant PPA|non-fluent primary progressive aphasia|Agramatic variant of PPA|Agramatic variant of primary progressive aphasia	http://purl.obolibrary.org/obo/MONDO_0015059	Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved.	MEDDRA:10029542|UMLS:C0751706|NCIT:C85025|SNOMEDCT:716281000|ORPHA:100070|MESH:D057178
HGNC:17989	SLC22A12	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17989		
MONDO:0015054	hereditary angioedema type 2	biolink:Disease	mondo	ICD10:D84.1|Orphanet:100051|UMLS:C1862892	ordo_etiological_subtype	hereditary angioneurotic edema type 2|HAE-II|HAE 2	http://purl.obolibrary.org/obo/MONDO_0015054	Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.	ORPHA:100051|UMLS:C1862892|UMLS:C0398776
MONDO:0015053	hereditary angioedema type 1	biolink:Disease	mondo	ICD9:279.8|ICD10:D84.1|Orphanet:100050|SCTID:234619000	ordo_etiological_subtype	HAE-I|hereditary angioneurotic edema type 1|HAE 1	http://purl.obolibrary.org/obo/MONDO_0015053	Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.	SNOMEDCT:234619000|UMLS:C2717906|ORPHA:100050|MESH:C538577|UMLS:C0398775
MONDO:0015052	primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies	biolink:Disease	mondo	UMLS:CN197343|Orphanet:100049	ordo_group_of_disorders	primary ILD specific to childhood due to pulmonary surfactant protein anomalies	http://purl.obolibrary.org/obo/MONDO_0015052	Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation.	UMLS:CN197343|ORPHA:100049
MONDO:0015051	tubular duplication of the esophagus	biolink:Disease	mondo	ICD10:Q39.8|Orphanet:100048	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0015051	Tubular duplication of the esophagous is a rare congenital malformation where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in children.	ORPHA:100048
MONDO:0015058	obsolete Waterhouse-Friderichsen syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0015058		
MONDO:0015057	renin-angiotensin-aldosterone system-blocker-induced angioedema	biolink:Disease	mondo	OMIM:300909|Orphanet:100057|GARD:0009445|MESH:C535293|ICD10:T78.3	ordo_clinical_subtype	reactive angioendotheliomatosis|angioedema induced by ACE inhibitors, susceptibility to|angioedema induced by ACE inhibitors, susceptibility to; AEACEI|susceptibility to angioedema induced by ace inhibitors|Raas-blocker-induced angioedema|Raas-blocker-induced angioneurotic edema|AEACEI|RAE|renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema	http://purl.obolibrary.org/obo/MONDO_0015057	Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.	MESH:C535293|ORPHA:100057|http://identifiers.org/omim/300909
MONDO:0015056	acquired angioedema type 1	biolink:Disease	mondo	Orphanet:100056|UMLS:CN197348|ICD10:T78.3	ordo_clinical_subtype	acquired angioneurotic edema type 1	http://purl.obolibrary.org/obo/MONDO_0015056	Acquired angioedema type 1 (AAE 1) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.	UMLS:CN197348|ORPHA:100056
MONDO:0015055	acquired angioedema type 2	biolink:Disease	mondo	Orphanet:100055|UMLS:CN197347|ICD10:T78.3	ordo_clinical_subtype	AAE II|AAE 2|acquired angioneurotic edema type 2	http://purl.obolibrary.org/obo/MONDO_0015055	Acquired angioedema type 2 (AAE2) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.	UMLS:CN197347|ORPHA:100055
MONDO:0027029	HHV-6 encephalitis	biolink:Disease	mondo	GARD:0009667	gard_rare	Variant B or HHV-6B|Variant A or HHV-6A|Human Herpesvirus 6 encephalitis	http://purl.obolibrary.org/obo/MONDO_0027029	HHV-6 encephalitis refers to inflammation of the brain due to an infection with human herpesvirus 6. People who have undergone allogeneic hematopoietic cell transplantation are at an increased risk for developing HHV-6 encephalitis, particularly when umbilical cord blood stem cells are used. People with immune system disorders may also be at an increased risk for developing this infection. Signs and symptoms vary, but often include confusion, anterograde amnesia (difficulty learning new information following the onset of amnesia), short-term memory loss, and seizures.Diagnosis often involves lumbar puncture, virus testing, and MRI. EEG 's may also be recommendedwhen seizures are suspected. HHV-6 encephalitis is treated with an antiviral agent with activity against HHV-6. Long term outlook (chance of full recovery) can vary considerably depending individual patient factors.	
MONDO:0003076	unilateral retinoblastoma	biolink:Disease	mondo	DOID:4651|NCIT:C8714|UMLS:C0854915			http://purl.obolibrary.org/obo/MONDO_0003076	A retinoblastoma that only involves a single eye.	NCIT:C8714|UMLS:C0854915|DOID:4651
HGNC:27310	FLCN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/27310		
MONDO:0003077	intraocular retinoblastoma	biolink:Disease	mondo	DOID:4653|NCIT:C7846|UMLS:C0278717		intraocular retinoblastoma	http://purl.obolibrary.org/obo/MONDO_0003077	Retinoblastoma restricted to local involvement.	DOID:4653|NCIT:C7846|UMLS:C0278717
MONDO:0003078	extraocular retinoblastoma	biolink:Disease	mondo	NCIT:C7848|DOID:4656|UMLS:C0278719		extraocular retinoblastoma|metastatic retinoblastoma	http://purl.obolibrary.org/obo/MONDO_0003078	Retinoblastoma that has spread beyond the eye e.g. to brain, soft tissue/bone, bone marrow.	DOID:4656|NCIT:C7848|UMLS:C0278719
MONDO:0003079	mastocytoma	biolink:Disease	mondo	ICD9:238.5|ICDO:9740/1|SCTID:404171008|NCIT:C9303|UMLS:C0024897		mastocytoma	http://purl.obolibrary.org/obo/MONDO_0003079	A localized tumor composed of sheets of mast cells without atypia. It includes the cutaneous mastocytoma which involves the dermis and subcutaneous tissue, and the extracutaneous mastocytoma. Most cases of extracutaneous mastocytoma have been reported in the lung.	UMLS:C0024897|SNOMEDCT:404171008|NCIT:C9303
MONDO:0003072	retinal cancer	biolink:Disease	mondo	SCTID:363465007|EFO:0005716|ICD10:C69.2|ICD9:190.5|DOID:4645|MESH:D019572|NCIT:C3216		malignant retinal neoplasm|malignant neoplasm of retina|retina cancer|malignant tumor of retina|malignant tumor of the retina|retinal tumor|malignant retinal tumor|malignant retina neoplasm|neoplasm of retina|malignant retina tumor|malignant neoplasm of the retina|cancer of retina	http://purl.obolibrary.org/obo/MONDO_0003072	A malignant neoplasm involving the retina.	MESH:D019572|NCIT:C3216|SNOMEDCT:363465007|DOID:4645
MONDO:0027026	Buschke Lowenstein tumor	biolink:Disease	mondo	NCIT:C6371|UMLS:C0276264|SCTID:402910001|GARD:0009663|MESH:D062688	gard_rare	giant condyloma acuminatum involving the prepuce and glans penis|anogenital type verrucous carcinoma|condyloma Acuminatum, Giant|Giant condyloma of Buschke and Lowenstein|giant condyloma of Buschke and Lowenstein|tumor, Buschke Lowenstein|Lowenstein tumor, Buschke|tumor, Buschke-Lowenstein|Giant condyloma Acuminatums|Buschke Lowenstein tumor|GCBL|condyloma Acuminatums, Giant|Buschke-Lowenstein tumor|Giant condyloma Acuminatum	http://purl.obolibrary.org/obo/MONDO_0027026	A verrucous carcinoma of the skin or mucosa that occurs in the anogenital region.	SNOMEDCT:402910001|UMLS:C0276264|NCIT:C6371|MESH:D062688
MONDO:0003073	trilateral retinoblastoma	biolink:Disease	mondo	UMLS:C2608045|NCIT:C7019|DOID:4647			http://purl.obolibrary.org/obo/MONDO_0003073	Trilateral retinoblastoma refers to bilateral (or less often unilateral) retinoblastoma associated with an intracranial primitive neuroectodermal tumor in the pineal or suprasellar region. This syndrome is often associated with a increased familial incidence of retinoblastoma. (From Cancer 86(1): 135-141, 1999).	UMLS:C2608045|NCIT:C7019|DOID:4647
MONDO:0003074	obsolete familial retinoblastoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003074		
MONDO:0003075	bilateral retinoblastoma	biolink:Disease	mondo	NCIT:C8713|DOID:4650|UMLS:C0854914			http://purl.obolibrary.org/obo/MONDO_0003075	Retinoblastoma involving both eyes. This occurs in the majority of patients with the inherited variant. A minority of patient with bilateral retinoblastoma were found to have involvement of the pineal gland as well.	UMLS:C0854914|DOID:4650|NCIT:C8713
MONDO:0015049	solitary necrotic nodule of the liver	biolink:Disease	mondo	ICD10:D13.4|Orphanet:100035|UMLS:CN197336|SCTID:447058001	ordo_disease	hepatic solitary necrotic nodule	http://purl.obolibrary.org/obo/MONDO_0015049	Solitary necrotic tumor of the liver is a rare nonmalignant hepatic lesion characterized by a mass with a completely necrotic core often partially calcified, surrounded by a dense hyalinized fibrous capsule containing elastin fibers. Patients are usually asymptomatic but some may suffer from intermittent abdominal pain or discomfort.	SNOMEDCT:447058001|UMLS:CN197336|ORPHA:100035
MONDO:0003070	axillary lymphadenitis	biolink:Disease	mondo	UMLS:C0919797|NCIT:C27333|DOID:4640		lymphadenitis (disease) of axilla|axillary adenitis|axilla lymphadenitis (disease)|axillary lymphadenitis	http://purl.obolibrary.org/obo/MONDO_0003070	An infection of the lymph nodes in the axilla.	UMLS:C0919797|DOID:4640|NCIT:C27333
MONDO:0015048	amelogenesis imperfecta type 2	biolink:Disease	mondo	Orphanet:100033|SCTID:109475005|GARD:0008349|ICD9:520.5|MESH:C536606|ICD10:K00.5	ordo_clinical_subtype|clingen	amelogenesis imperfecta hypomaturation type|hypomaturation amelogenesis imperfecta	http://purl.obolibrary.org/obo/MONDO_0015048		SNOMEDCT:109475005|MESH:C536606|ORPHA:100033|UMLS:C0399372
MONDO:0003071	obsolete epidermolysis bullosa simplex	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003071		
CHEBI:60832	tubulin modulator	biolink:ChemicalSubstance	mondo			tubulin modulators	http://purl.obolibrary.org/obo/CHEBI_60832	Any substance that interacts with tubulin to inhibit or promote polymerisation of microtubules.	
MONDO:0015043	extramedullary soft tissue plasmacytoma	biolink:Disease	mondo	Orphanet:100022|UMLS:CN197328|ICD10:C90.2	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0015043		UMLS:CN197328|ORPHA:100022
HGNC:17995	TRPM6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17995		
MONDO:0015042	primary plasmacytoma of the bone	biolink:Disease	mondo	ICD10:C90.3|Orphanet:100021|UMLS:CN197327	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0015042		UMLS:CN197327|ORPHA:100021
HGNC:17994	TRPM7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17994		
MONDO:0015041	myelodysplastic syndrome with excess blasts-2	biolink:Disease	mondo	NCIT:C7168|UMLS:C1318551|Orphanet:100020|ICD10:D46.2	ordo_clinical_subtype	RAEB-II|myelodysplastic syndrome with Excess blasts-2|refractory anemia with excess blasts type 2|RAEB-2|MDS-EB-2	http://purl.obolibrary.org/obo/MONDO_0015041	A myelodysplastic syndrome defined by 10-19% blasts in the bone marrow or 5-19% blasts in the blood and <10% blasts in the bone marrow. Approximately 33% of cases progress to acute leukemia. The prognosis is usually poor. (WHO)	NCIT:C7168|ORPHA:100020|UMLS:C1318551
HGNC:17997	FKRP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17997		
MONDO:0015040	myelodysplastic syndrome with excess blasts-1	biolink:Disease	mondo	NCIT:C7167|UMLS:C1318550|ICD10:D46.2|Orphanet:100019	ordo_clinical_subtype	refractory anemia with excess blasts type 1|myelodysplastic syndrome with Excess blasts-1|RAEB-I|RAEB-1|MDS-EB-1	http://purl.obolibrary.org/obo/MONDO_0015040	A myelodysplastic syndrome defined by 5-9% blasts in the bone marrow, and <5% blasts in the blood. Approximately 25% of cases progress to an acute leukemia. (WHO)	NCIT:C7167|ORPHA:100019|UMLS:C1318550
HGNC:17996	NAGS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17996		
MONDO:0015047	amelogenesis imperfecta type 1	biolink:Disease	mondo	SCTID:109476006|ICD9:520.5|ICD10:K00.5|Orphanet:100031	ordo_clinical_subtype	hypoplastic amelogenesis imperfecta	http://purl.obolibrary.org/obo/MONDO_0015047		ORPHA:100031|SNOMEDCT:109476006
MONDO:0015046	gamma-heavy chain disease	biolink:Disease	mondo	Orphanet:100026|ICD10:C88.2|NCIT:C3083|SCTID:109984001|ICD9:273.2|GARD:0010346|DOID:0060127	ordo_clinical_subtype	Franklin disease|gamma-HCD|Franklin's disease|gamma heavy chain disease	http://purl.obolibrary.org/obo/MONDO_0015046	Gamma-heavy chain disease (gamma-HCD) is a type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases.	DOID:0060127|SNOMEDCT:109984001|ORPHA:100026|NCIT:C3083
MONDO:0015045	alpha-heavy chain disease	biolink:Disease	mondo	ICDO:9764/3|DOID:0060126|NCIT:C3132|Orphanet:100025|ICDO:9760/3|ICD10:C88.3|MESH:D007161|UMLS:C0021071|EFO:1001798	ordo_clinical_subtype	Mediterranean lymphoma|Mediterranean abdominal lymphoma|Alpha heavy chain disease|IPSID|alpha chain disease|Immunoproliferative small intestinal disease|Alpha-HCD|Seligmann's disease|Mediterraneanl lymphoma	http://purl.obolibrary.org/obo/MONDO_0015045	Alpha-heavy chain disease (alpha-HCD) is a type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption.	MESH:D007161|DOID:0060126|UMLS:C0021071|ORPHA:100025|NCIT:C3132
HGNC:17993	TRPM4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17993		
MONDO:0015044	mu-heavy chain disease	biolink:Disease	mondo	Orphanet:100024|SCTID:61493004|NCIT:C3892|DOID:0060128|ICD10:C88.2|ICD9:273.2	ordo_clinical_subtype	mu heavy chain disease|mu-HCD|mu chain disease	http://purl.obolibrary.org/obo/MONDO_0015044	Mu-heavy chain disease (mu-HCD) is a type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL).	DOID:0060128|ORPHA:100024|SNOMEDCT:61493004|NCIT:C3892
NCBITaxon:178830	Bornaviridae	organism taxon	mondo	GC_ID:1|PMID:25449305			http://purl.obolibrary.org/obo/NCBITaxon_178830		
HGNC:30935	YY1AP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30935		
MONDO:0017690	disorder of galactose metabolism	biolink:Disease	mondo	UMLS:C0342745|Orphanet:308467|SCTID:237963003|ICD10:E74.2	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017690		UMLS:C0342745|ORPHA:308467|SNOMEDCT:237963003
MONDO:0003047	thymic large cell neuroendocrine carcinoma	biolink:Disease	mondo	UMLS:C1334364|NCIT:C6461|DOID:4553		thymus large cell carcinoma|large cell carcinoma of the Thymus|Thymus large cell carcinoma|thymus large cell neuroendocrine carcinoma|thymic large cell neuroendocrine carcinoma|large cell neuroendocrine carcinoma of thymus|large cell neuroendocrine carcinoma of Thymus|large cell neuroendocrine carcinoma of the Thymus|thymic LCNEC	http://purl.obolibrary.org/obo/MONDO_0003047	An aggressive, non-small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and, almost always, necrosis.	DOID:4553|NCIT:C6461|UMLS:C1334364
HGNC:29944	TENM3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29944		
HGNC:29945	TENM4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29945		
MONDO:0003048	obsolete type C thymoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0003048		
MONDO:0003049	ovarian large-cell neuroendocrine carcinoma	biolink:Disease	mondo	UMLS:C1335174|DOID:4555|NCIT:C5238		large cell neuroendocrine carcinoma of ovary|large-cell neuroendocrine carcinoma of the ovary|large-cell neuroendocrine carcinoma of ovary|non-small-cell type neuroendocrine carcinoma of the ovary|ovary large cell neuroendocrine carcinoma|ovarian large cell neuroendocrine carcinoma|non-small-cell type neuroendocrine carcinoma of ovary|ovarian large cell NEC|ovarian non-small-cell type neuroendocrine carcinoma|large cell neuroendocrine carcinoma of the ovary	http://purl.obolibrary.org/obo/MONDO_0003049	A carcinoma that arises from the ovary and is characterized by the presence of large malignant cells exhibiting neuroendocrine differentiation. The prognosis is poor.	DOID:4555|NCIT:C5238|UMLS:C1335174
MONDO:0003043	obsolete extraskeletal mesenchymal chondrosarcoma	biolink:Disease	mondo	SCTID:404080006|ICD9:171.9|DOID:4548|NCIT:C27481|UMLS:C1275279		mesenchymal extraosseous chondrosarcoma|mesenchymal extraskeletal chondrosarcoma	http://purl.obolibrary.org/obo/MONDO_0003043	A rare malignant tumor of soft tissue characterized by a bimorphic pattern composed of undifferentiated small round cells and islands of well differentiated hyaline cartilage.	DOID:4548|NCIT:C27481|UMLS:C1275279|SNOMEDCT:404080006
MONDO:0003044	obsolete extraosseous chondrosarcoma	biolink:Disease	mondo	DOID:4549			http://purl.obolibrary.org/obo/MONDO_0003044	A chondrosarcoma that is located in exclusively soft tissue.	DOID:4549
HGNC:29941	GATAD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29941		
MONDO:0003045	anal gland neoplasm	biolink:Disease	mondo	MESH:D000694|EFO:1000804|DOID:4550|UMLS:C0002757		gland of anal canal neoplasm (disease)|neoplasm of gland of anal canal|gland of anal canal tumor|gland of anal canal neoplasm|tumor of gland of anal canal	http://purl.obolibrary.org/obo/MONDO_0003045	Tumors or cancer of the anal gland.	UMLS:C0002757|DOID:4550|MESH:D000694
MONDO:0003046	anus neoplasm	biolink:Disease	mondo	SCTID:126849006|DOID:4551|NCIT:C2877|UMLS:C0003463|EFO:0003835|MESH:D001005		neoplasm of anus|tumor of anus|anal neoplasm|anus neoplasm|neoplasm of the anus|anus tumor|anal tumor|anal tumors|anal neoplasms, benign and malignant|tumor of the anus|anus neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0003046	A benign or malignant neoplasm that affects the anal canal or anal margin. Representative examples of benign neoplasms include squamous papilloma and papillary hidradenoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and melanoma.	NCIT:C2877|DOID:4551|SNOMEDCT:126849006|UMLS:C0003463|MESH:D001005
MONDO:0003040	retrograde amnesia	biolink:Disease	mondo	ICD10:R41.2|MESH:D000648|DOID:4543|COHD:4198081			http://purl.obolibrary.org/obo/MONDO_0003040	The loss of access to memories that were previously encoded; this disorder is most commonly preceded by trauma, including physical brain injury, stroke, or seizure, but may also be psychogenic in origin. Memory loss may be temporary or permanent, but the ability to encode new memories or skills is not generally affected.	NCIT:C34372|MESH:D000648|DOID:4543
MONDO:0003041	pediatric mesenchymal chondrosarcoma	biolink:Disease	mondo	DOID:4546|UMLS:C1332982|NCIT:C27374		mesenchymal chondrosarcoma|mesenchymal chondrosarcoma of childhood|pediatric mesenchymal chondrosarcoma|childhood mesenchymal chondrosarcoma	http://purl.obolibrary.org/obo/MONDO_0003041	A mesenchymal chondrosarcoma occurring in children.	UMLS:C1332982|DOID:4546|NCIT:C27374
HGNC:30939	ZFHX4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30939		
MONDO:0003042	adult mesenchymal chondrosarcoma	biolink:Disease	mondo	DOID:4547|NCIT:C27375|UMLS:C1332207		mesenchymal chondrosarcoma of adults|adult mesenchymal chondrosarcoma	http://purl.obolibrary.org/obo/MONDO_0003042	A mesenchymal chondrosarcoma occurring in adults.	DOID:4547|NCIT:C27375|UMLS:C1332207
MONDO:0042604	Sandhaus-Ben-Ami syndrome	biolink:Disease	mondo	UMLS:C2931451|GARD:0000154|MESH:C537233	gard_rare	Sandhaus Ben-Ami syndrome|patella hypoplasia skeletal malformations	http://purl.obolibrary.org/obo/MONDO_0042604		MESH:C537233|UMLS:C2931451
MONDO:0015039	lissencephaly with cerebellar hypoplasia type F	biolink:Disease	mondo	Orphanet:100016|UMLS:C4274989|ICD10:Q04.3|SCTID:715822007|UMLS:CN228905	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0015039	Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum.	UMLS:CN228905|SNOMEDCT:715822007|UMLS:C4274989|ORPHA:100016
MONDO:0042605	Y chromosome infertility due to DAZ1 deletion	biolink:Disease	mondo	HGNC:2682|GARD:0000185	gard_rare	DAZ|male sterility due to Y-chromosome deletions|Y chromosome infertility|Y chromosome microdeletions|deleted in azoospermia	http://purl.obolibrary.org/obo/MONDO_0042605		
MONDO:0015038	lissencephaly with cerebellar hypoplasia type E	biolink:Disease	mondo	Orphanet:100015|ICD10:Q04.3|UMLS:CN228904	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0015038	Lissencephaly with cerebellar hypoplasia type E (LCHe) is a form of lissencephaly with cerebellar hypoplasia, characterized by an abrupt transition from agyria to gyral simplification, near the boundary between frontal and parietal cortex, microcephaly (B1 3 SD) and brainstem hypoplasia.	UMLS:CN228904|ORPHA:100015
MONDO:0015037	lissencephaly with cerebellar hypoplasia type D	biolink:Disease	mondo	SCTID:715821000|Orphanet:100014|ICD10:Q04.3|UMLS:C4274991|UMLS:CN228903	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0015037	Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (at least B1 3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.	UMLS:CN228903|UMLS:C4274991|SNOMEDCT:715821000|ORPHA:100014
HP:0006753	Neoplasm of the stomach	biolink:PhenotypicFeature	mondo	UMLS:C4020813|UMLS:C0038356|NCIT:C3262|SNOMEDCT_US:126824007|MSH:D013274		Increased gastric cancer|Stomach tumor|Neoplasia of the stomach	http://purl.obolibrary.org/obo/HP_0006753	A tumor (abnormal growth of tissue) of the stomach.	
MONDO:0017699	glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form	biolink:Disease	mondo	MedDRA:10053250|ICD10:E74.0|Orphanet:308684	ordo_clinical_subtype	GBE deficiency, childhood combined hepatic and myopathic form|glycogenosis type 4, childhood combined hepatic and myopathic form|glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form|glycogenosis type IV, childhood combined hepatic and myopathic form|GSDIV, childhood combined hepatic and myopathic form|GSD type 4, childhood combined hepatic and myopathic form|glycogen storage disease type 4, childhood combined hepatic and myopathic form|GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form|glycogen storage disease type IV, childhood combined hepatic and myopathic form	http://purl.obolibrary.org/obo/MONDO_0017699		ORPHA:308684|UMLS:C0017922|MEDDRA:10053250
MONDO:0042600	Sammartino-Decreccio syndrome	biolink:Disease	mondo	GARD:0000150	gard_rare	Sammartino Decreccio syndrome|superficial annular corneal dystrophy, ichthyosis nigrans, microcephaly and mild mental subnormality	http://purl.obolibrary.org/obo/MONDO_0042600		
HGNC:17966	CEP83	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17966		
MONDO:0042601	Samson-Gardner syndrome	biolink:Disease	mondo	UMLS:C2931448|GARD:0000151|MESH:C537230	gard_rare	Samson Gardner syndrome|craniosynostosis, microcephaly, hydrancephaly, humero-radial synostosis, and thumb aplasia	http://purl.obolibrary.org/obo/MONDO_0042601		MESH:C537230|UMLS:C2931448
MONDO:0042602	Samson-Viljoen syndrome	biolink:Disease	mondo	GARD:0000152|MESH:C537231|UMLS:C2931449	gard_rare	Samson Viljoen syndrome|lateral facial cleft, cleft lip and palate, anophthalmia, microtia, clavicular agenesis and asternia	http://purl.obolibrary.org/obo/MONDO_0042602		MESH:C537231|UMLS:C2931449
ECTO:0000371	oxygen molecular entity exposure	biolink:OntologyClass	mondo			exposure to oxygen molecular entity	http://purl.obolibrary.org/obo/ECTO_0000371	An exposure to oxygen molecular entity.	
MONDO:0042603	Sanderson-Fraser syndrome	biolink:Disease	mondo	UMLS:C2931450|GARD:0000153|MESH:C537232	gard_rare	proptosis, Robin association, clenched hands, and multiple abnormalities|Sanderson Fraser syndrome	http://purl.obolibrary.org/obo/MONDO_0042603		MESH:C537232|UMLS:C2931450
HGNC:17967	IRAK4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17967		
MONDO:0017695	glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form	biolink:Disease	mondo	ICD10:E74.0|UMLS:CN203594|Orphanet:308621	ordo_clinical_subtype	GBE deficiency, progressive hepatic form|GSD due to glycogen branching enzyme deficiency, progressive hepatic form|glycogen storage disease type IV, progressive hepatic form|glycogen storage disease type 4, progressive hepatic form|GSD type 4, progressive hepatic form|GSDIV, progressive hepatic form|glycogenosis type IV, progressive hepatic form|glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form|glycogenosis type 4, progressive hepatic form	http://purl.obolibrary.org/obo/MONDO_0017695		ORPHA:308621|UMLS:CN203594
MONDO:0015032	intraneural perineurioma	biolink:Disease	mondo	Orphanet:100003|DOID:4696|NCIT:C6911|UMLS:C1370658|GARD:0010921|SCTID:768934004	gard_rare|ordo_disease	intraneural perineurioma|intraneural perineurioma (WHO grade I)	http://purl.obolibrary.org/obo/MONDO_0015032	A WHO grade I perineurioma that arises within the endoneurium. It is characterized by the formation of pseudo-onion bulbs by the proliferating perineural cells.	DOID:4696|NCIT:C6911|UMLS:C1370658|ORPHA:100003|SNOMEDCT:768934004
MONDO:0017696	glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form	biolink:Disease	mondo	Orphanet:308638|UMLS:CN203595|ICD10:E74.0	ordo_clinical_subtype	glycogenosis type IV, non progressive hepatic form|glycogenosis type 4, non progressive hepatic form|glycogenosis due to glycogen branching enzyme deficiency, non progressive hepatic form|GBE deficiency, non progressive hepatic form|glycogen storage disease type IV, non progressive hepatic form|GSD due to glycogen branching enzyme deficiency, non progressive hepatic form|glycogen storage disease type 4, non progressive hepatic form|GSD type 4, non progressive hepatic form|GSDIV, non progressive hepatic form	http://purl.obolibrary.org/obo/MONDO_0017696		ORPHA:308638|UMLS:CN203595
MONDO:0015031	extraneural perineurioma	biolink:Disease	mondo	SCTID:768926005|Orphanet:100002|UMLS:CN197321	ordo_disease	soft tissue perineurioma	http://purl.obolibrary.org/obo/MONDO_0015031	Extraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (e.g., in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization.	SNOMEDCT:768926005|UMLS:CN197321|ORPHA:100002
MONDO:0017697	glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form	biolink:Disease	mondo	UMLS:C1856303|ICD10:E74.0|Orphanet:308655	ordo_clinical_subtype	GSDIV, fatal perinatal neuromuscular form|glycogenosis type IV, fatal perinatal neuromuscular form|glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form|glycogenosis type 4, fatal perinatal neuromuscular form|GBE deficiency, fatal perinatal neuromuscular form|glycogen storage disease type IV, fatal perinatal neuromuscular form|GSD due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form|glycogen storage disease type 4, fatal perinatal neuromuscular form|GSD type 4, fatal perinatal neuromuscular form	http://purl.obolibrary.org/obo/MONDO_0017697		UMLS:C1856303|ORPHA:308655
HGNC:17964	RDH11	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17964		
MONDO:0015030	sclerosing perineurioma	biolink:Disease	mondo	Orphanet:100001|UMLS:CN197320	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0015030		UMLS:CN197320|ORPHA:100001
MONDO:0017698	glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form	biolink:Disease	mondo	Orphanet:308670|UMLS:C1856304|ICD10:E74.0	ordo_clinical_subtype	GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form|glycogen storage disease type IV, congenital neuromuscular form|GBE deficiency, congenital neuromuscular form|glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form|glycogenosis type 4, congenital neuromuscular form|glycogenosis type IV, congenital neuromuscular form|GSDIV, congenital neuromuscular form|GSD type 4, congenital neuromuscular form|glycogen storage disease type 4, congenital neuromuscular form	http://purl.obolibrary.org/obo/MONDO_0017698		UMLS:C1856304|ORPHA:308670
MONDO:0015036	lissencephaly with cerebellar hypoplasia type C	biolink:Disease	mondo	UMLS:CN228902|Orphanet:100013|ICD10:Q04.3|UMLS:C4274992|SCTID:715820004	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0015036	Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death.	UMLS:C4274992|SNOMEDCT:715820004|ORPHA:100013|UMLS:CN228902
MONDO:0017691	erythrocyte galactose epimerase deficiency	biolink:Disease	mondo	UMLS:C0574090|ICD10:E74.2|Orphanet:308473|SCTID:297238008	ordo_clinical_subtype	erythrocyte uridine diphosphate galactose-4-epimerase deficiency|erythrocyte UDP-galactose-4-epimerase deficiency|erythrocyte GALE deficiency|erythrocyte epimerase deficiency galactosemia|erythrocyte GALE-D	http://purl.obolibrary.org/obo/MONDO_0017691		ORPHA:308473|UMLS:C0574090|SNOMEDCT:297238008
MONDO:0015035	lissencephaly with cerebellar hypoplasia type B	biolink:Disease	mondo	UMLS:CN228901|SCTID:715819005|ICD10:Q04.3|Orphanet:100012|UMLS:C4274993	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0015035	Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb.	UMLS:C4274993|ORPHA:100012|SNOMEDCT:715819005|UMLS:CN228901
MONDO:0017692	generalized galactose epimerase deficiency	biolink:Disease	mondo	SCTID:297237003|Orphanet:308487|ICD10:E74.2|UMLS:C0574089	ordo_clinical_subtype	generalized GALE-D|generalized GALE deficiency|generalized uridine diphosphate galactose-4-epimerase deficiency|generalized UDP-galactose-4-epimerase deficiency|generalized epimerase deficiency galactosemia	http://purl.obolibrary.org/obo/MONDO_0017692		ORPHA:308487|UMLS:C0574089|SNOMEDCT:297237003
MONDO:0017693	glycogen storage disease due to glycogen synthase deficiency	biolink:Disease	mondo	ICD10:E74.0|Orphanet:308520|UMLS:CN203589	ordo_group_of_disorders	glycogenosis due to glycogen synthase deficiency|GSD0|glycogen storage disease type 0|GSD due to glycogen synthase deficiency	http://purl.obolibrary.org/obo/MONDO_0017693		ORPHA:308520|UMLS:CN203589
MONDO:0015034	lissencephaly with cerebellar hypoplasia type A	biolink:Disease	mondo	UMLS:CN228900|ICD10:Q04.3|Orphanet:100011	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0015034	Lissencephaly with cerebellar hypoplasia type A (LCHa) is a form of lissencephaly with cerebellar hypoplasia that encompasses classical lissencephaly with thickened cortical gray matter with either no discernable gradient, a gradient with posterior predominance, or a gradient with anterior predominance, and cerebellar vermis hypoplasia.	ORPHA:100011|UMLS:CN228900
MONDO:0017694	glycogen storage disease due to acid maltase deficiency, infantile onset	biolink:Disease	mondo	ICD10:E74.0|UMLS:C3888924|SCTID:722302009|UMLS:CN203590|Orphanet:308552	ordo_clinical_subtype	glycogenosis type II, infantile onset|GSD type 2, infantile onset|GSD due to acid maltase deficiency, infantile onset|glycogen storage disease type 2, infantile onset|alpha-1,4-glucosidase acid deficiency, infantile onset|glycogen storage disease type II, infantile onset|GSD type II, infantile onset|glycogenosis type 2, infantile onset|glycogenosis due to acid maltase deficiency, infantile onset|Pompe disease, infantile onset	http://purl.obolibrary.org/obo/MONDO_0017694	Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.	SNOMEDCT:722302009|ORPHA:308552|UMLS:CN203590|UMLS:C3888924
MONDO:0015033	ABeta amyloidosis, dutch type	biolink:Disease	mondo	Orphanet:100006|ICD10:I68.0*|ICD9:277.39|SCTID:56453003|ICD10:E85.4+	ordo_clinical_subtype	cerebral amyloid angiopathy, APP-related, Dutch variant|ABetaE22Q amyloidosis|hereditary cerebral hemorrhage with amyloidosis, Dutch type|HCHWA-D|HCHWA, Dutch type	http://purl.obolibrary.org/obo/MONDO_0015033	Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA, a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia.	MESH:C537944|UMLS:C2931672|SNOMEDCT:56453003|ORPHA:100006|MESH:D028243|UMLS:C0268394
HGNC:30927	SLC6A20	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30927		
MONDO:0003058	microcystic meningioma	biolink:Disease	mondo	EFO:1000376|NCIT:C4721|UMLS:C1384408|DOID:4594		microcystic meningioma|microcystic meningioma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003058	A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid.	DOID:4594|UMLS:C1384408|NCIT:C4721
HGNC:30922	LINS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/30922		
MONDO:0003059	bile duct cancer	biolink:Disease	mondo	ICD10:C24.0|DOID:4606|ICD9:156.1		cancer of bile duct|bile duct cancer|malignant bile duct neoplasm|malignant neoplasm of bile duct|bile duct tumor|malignant neoplasm of the extrahepatic bile duct|Ca extrahepatic bile ducts	http://purl.obolibrary.org/obo/MONDO_0003059	A malignant neoplasm involving the bile duct	DOID:4606
MONDO:0003054	benign meningioma	biolink:Disease	mondo	DOID:4587|UMLS:C0281784|NCIT:C4055|SCTID:724171006		benign meningioma (WHO grade I)|meningioma, benign|meningioma (disease), benign	http://purl.obolibrary.org/obo/MONDO_0003054	A grade I, slowly growing meningioma. Only a minority of tumors recur following complete resection.	DOID:4587|UMLS:C0281784|NCIT:C4055|SNOMEDCT:724171006
MONDO:0003055	secretory meningioma	biolink:Disease	mondo	NCIT:C4718|DOID:4588|UMLS:C1384406|EFO:1000522		secretory meningioma (morphologic abnormality)|secretory meningioma	http://purl.obolibrary.org/obo/MONDO_0003055	A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen.	DOID:4588|UMLS:C1384406|NCIT:C4718
ECTO:9000519	dioxygen exposure	biolink:OntologyClass	mondo			exposure to dioxygen	http://purl.obolibrary.org/obo/ECTO_9000519	An exposure to dioxygen.	
MONDO:0003056	lymphoplasmacyte-rich meningioma	biolink:Disease	mondo	EFO:1000342|NCIT:C4720|UMLS:C0431119|DOID:4591		lymphoplasmocyte-rich meningioma|lymphoplasmacyte-rich meningioma|lymphoplasmocyte-rich meningioma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0003056	A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells.	DOID:4591|UMLS:C0431119|NCIT:C4720
MONDO:0003057	pediatric meningioma	biolink:Disease	mondo	NCIT:C8264|DOID:4593|UMLS:C0280656		childhood meningioma|pediatric meningioma (disease)|pediatric meningioma (disease)|pediatric meningioma|meningioma|meningioma (disease) of childhood|childhood meningioma (disease)	http://purl.obolibrary.org/obo/MONDO_0003057	A meningioma that occurs during childhood.	NCIT:C8264|DOID:4593|UMLS:C0280656
MONDO:0003050	lung large cell carcinoma	biolink:Disease	mondo	SCTID:254629004|ONCOTREE:LCLC|NCIT:C4450|ICD9:162.9|UMLS:C0345958|EFO:0003050|EFO:1000016|DOID:4556		large cell carcinoma of lung|large cell carcinoma of the lung|large cell undifferentiated lung carcinoma|lung large cell carcinoma|large cell lung carcinoma|anaplastic lung carcinoma|large cell lung cancer|LCLC	http://purl.obolibrary.org/obo/MONDO_0003050	A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation. There is a male predilection.	DOID:4556|SNOMEDCT:254629004|NCIT:C4450|UMLS:C0345958
MONDO:0003051	non specific chronic endometritis	biolink:Disease	mondo	DOID:4560|UMLS:C1335061|NCIT:C27625		non specific chronic endometritis	http://purl.obolibrary.org/obo/MONDO_0003051	Chronic endometritis characterized by the presence of plasmacytic infiltrates in the endometrium. There are no granulomas present.	DOID:4560|NCIT:C27625|UMLS:C1335061
MONDO:0003052	granulomatous endometritis	biolink:Disease	mondo	DOID:4561|NCIT:C27626|UMLS:C1333876		granulomatous endometritis	http://purl.obolibrary.org/obo/MONDO_0003052	Chronic inflammation of the endometrium characterized by the presence of epithelioid granulomas. Causes include tuberculosis, fungal infections, parasitic infections, and sarcoidosis.	DOID:4561|NCIT:C27626|UMLS:C1333876
MONDO:0003053	choroid plexus meningioma	biolink:Disease	mondo	NCIT:C4719|DOID:4584|UMLS:C0431118		meningioma (disease) of choroid plexus|choroid plexus meningioma|choroid meningioma (morphologic abnormality)|choroid plexus meningioma (disease)|meningioma of choroid plexus|meningioma of the choroid plexus	http://purl.obolibrary.org/obo/MONDO_0003053	A meningioma that affects the choroid plexus.	DOID:4584|UMLS:C0431118|NCIT:C4719
MONDO:0015029	reticular perineurioma	biolink:Disease	mondo	Orphanet:100000|UMLS:CN197319	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0015029		UMLS:CN197319|ORPHA:100000
MONDO:0015028	48,XXYY syndrome	biolink:Disease	mondo	ICD9:758.81|UMLS:C2936741|ICD10:Q98.8|MedDRA:10048230|GARD:0005677|Orphanet:10|SCTID:403760006|NCIT:C89801	gard_rare|ordo_malformation_syndrome	48,XXYY variant of Klinefelter's syndrome|48,XXYY Klinefelter syndrome|48, XXYY syndrome|XXYY syndrome	http://purl.obolibrary.org/obo/MONDO_0015028	The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males.	SNOMEDCT:403760006|MEDDRA:10048230|UMLS:C2936741|NCIT:C89801|ORPHA:10
MONDO:0015027	familial isolated hyperparathyroidism	biolink:Disease	mondo	Orphanet:99879|NCIT:C94830|UMLS:CN207422|ICD10:E21.0	ordo_disease	FIHP|hyperparathyroidism type 4|familial isolated hyperparathyroidism|FIHPT	http://purl.obolibrary.org/obo/MONDO_0015027	A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors.	ORPHA:99879|NCIT:C94830|UMLS:CN207422
MONDO:0015026	cerebroretinal microangiopathy with calcifications and cysts 2	biolink:Disease	mondo	UMLS:CN240513|OMIM:617341		CRMCC2|cerebroretinal microangiopathy with calcifications and cysts 2; CRMCC2|cerebroretinal microangiopathy with calcifications and cysts type 2|Coats plus syndrome caused by mutation in STN1|STN1 Coats plus syndrome|cerebroretinal microangiopathy with calcifications and cysts 2	http://purl.obolibrary.org/obo/MONDO_0015026	Any Coats plus syndrome in which the cause of the disease is a mutation in the STN1 gene.	UMLS:CN240513|http://identifiers.org/omim/617341
MONDO:0017688	disorder of glycolysis	biolink:Disease	mondo	Orphanet:308459|UMLS:CN227176	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017688		ORPHA:308459|UMLS:CN227176
MONDO:0017689	disorder of fructose metabolism	biolink:Disease	mondo	Orphanet:308463|UMLS:C0342744|SCTID:39452003|ICD10:E74.1	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017689		UMLS:C0342744|SNOMEDCT:39452003|ORPHA:308463
HGNC:17978	B3GALT6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17978		
MONDO:0015021	hypotonia, ataxia, and delayed development syndrome	biolink:Disease	mondo	UMLS:C4310618|OMIM:617330		hypotonia, ataxia, and delayed development syndrome; HADDS|hypotonia, ataxia, and delayed development syndrome|HADDS	http://purl.obolibrary.org/obo/MONDO_0015021		http://identifiers.org/omim/617330|UMLS:C4310618
MONDO:0017684	disorder of beta and omega amino acid metabolism	biolink:Disease	mondo	Orphanet:308407|SCTID:237940008|ICD9:270.8|UMLS:C0342707	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017684		UMLS:C0342707|ORPHA:308407|SNOMEDCT:237940008
MONDO:0015020	intellectual disability, autosomal recessive 59	biolink:Disease	mondo	UMLS:C4310619|OMIM:617323		IMPA1 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive 59; MRT59|MRT59|mental retardation, autosomal recessive 59|intellectual disability, autosomal recessive type 59|autosomal recessive non-syndromic intellectual disability caused by mutation in IMPA1|mental retardation, autosomal recessive type 59|intellectual disability, autosomal recessive 59; MRT59|intellectual disability, autosomal recessive 59|intellectual disability, autosomal recessive 59; MRT59	http://purl.obolibrary.org/obo/MONDO_0015020	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the IMPA1 gene.	http://identifiers.org/omim/617323|UMLS:C4310619
MONDO:0017685	vitamin B12-responsive methylmalonic acidemia, type cblDv2	biolink:Disease	mondo	ICD10:E71.1|UMLS:CN203582|Orphanet:308442	ordo_clinical_subtype	vitamin B12-responsive methylmalonic aciduria, type cblDv2	http://purl.obolibrary.org/obo/MONDO_0017685		ORPHA:308442|UMLS:CN203582
MONDO:0017686	inborn aminoacylase deficiency	biolink:Disease	mondo	Orphanet:308448	ordo_group_of_disorders	inborn aminoacylase activity disorder|rare inborn error of aminoacylase activity|rare inborn error of aminoacylase activity|inborn error of aminoacylase activity|aminoacylase deficiency	http://purl.obolibrary.org/obo/MONDO_0017686	An acquired metabolic disease that is has its basis in the disruption of aminoacylase activity.	ORPHA:308448
HGNC:17975	REEP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17975		
MONDO:0017687	disorder of neutral amino acid transport	biolink:Disease	mondo	Orphanet:308451|ICD10:E72.0|UMLS:CN203583	ordo_group_of_disorders	rare inborn error of neutral amino acid transport|rare inborn error of neutral amino acid transport|inborn neutral amino acid transport disorder|inborn error of neutral amino acid transport	http://purl.obolibrary.org/obo/MONDO_0017687	An acquired metabolic disease that is has its basis in the disruption of neutral amino acid transport.	ORPHA:308451|UMLS:CN203583
MONDO:0015025	developmental and epileptic encephalopathy, 51	biolink:Disease	mondo	DOID:0080433|UMLS:CN240510|OMIM:617339|UMLS:C4479208		epileptic encephalopathy, early infantile, type 51|EIEE51|DEE51|MDH2 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 51|early infantile epileptic encephalopathy caused by mutation in MDH2|epileptic encephalopathy, early infantile, 51; EIEE51	http://purl.obolibrary.org/obo/MONDO_0015025	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene.	UMLS:C4479208|DOID:0080433|http://identifiers.org/omim/617339|UMLS:CN240510
MONDO:0017680	obsolete autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature	biolink:Disease	mondo	UMLS:CN203567|Orphanet:308041		autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature	http://purl.obolibrary.org/obo/MONDO_0017680		ORPHA:308041|UMLS:CN203567
MONDO:0015024	ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type	biolink:Disease	mondo	OMIM:617337|UMLS:C4310616|DOID:0111652		ectodermal dysplasia 12, hypohidrotic/hair/Tooth/nail type|ectodermal dysplasia syndrome caused by mutation in KDF1|KDF1 ectodermal dysplasia syndrome|ECTD12|ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type; ECTD12	http://purl.obolibrary.org/obo/MONDO_0015024	Any ectodermal dysplasia syndrome in which the cause of the disease is a mutation in the KDF1 gene.	UMLS:C4310616|DOID:0111652|http://identifiers.org/omim/617337
MONDO:0017681	erythrokeratoderma variabilis progressiva	biolink:Disease	mondo	ICD10:Q82.8|Orphanet:308166	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017681	Erythrokeratoderma variabilis progressiva (EKVP) is a type of erythrokeratoderma characterized by the association of hyperkeratosis and erythema in persistent, although sometimes variable, circumscribed lesions. Progressive symmetric erythrokeratoderma (PSEK) and erythrokeratoderma variabilis (EKV) are probably no longer two distinctive diseases but rather the two clinical manifestations of a same disease, now known as EKVP.	ORPHA:308166
MONDO:0015023	MYPN-related myopathy	biolink:Disease	mondo	UMLS:C4479695|OMIM:617336|DOID:0110933|UMLS:C4479186|UMLS:CN240509		nemaline myopathy 11|nemaline myopathy caused by mutation in MYPN|nemaline myopathy 11, autosomal recessive; NEM11|nemaline myopathy type 11|nemaline myopathy 11, autosomal recessive|NEM11|MYPN nemaline myopathy	http://purl.obolibrary.org/obo/MONDO_0015023	Congenital myopathy caused by pathogenic mutations in MYPN that lead to a wide spectrum of phenotypes. Patients with mutations in this gene often experience muscle weakness, facial weakness, and sometimes cardiac and respiratory issues. Histological findings on skeletal muscle biopsy are variable with nemaline bodies and cap-like lesions.	UMLS:C4479186|UMLS:C4479695|http://identifiers.org/omim/617336|UMLS:CN240509|DOID:0110933
MONDO:0017682	intellectual disability-polydactyly-uncombable hair syndrome	biolink:Disease	mondo	MESH:C537615|ICD10:Q87.2|GARD:0003141|UMLS:C2931547|Orphanet:3082	ordo_malformation_syndrome	intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair|Kozlowski-Krajewska syndrome|mental retardation, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair	http://purl.obolibrary.org/obo/MONDO_0017682	Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported.	MESH:C537615|UMLS:C2931547|ORPHA:3082
MONDO:0015022	intellectual developmental disorder with dysmorphic facies and ptosis	biolink:Disease	mondo	EFO:0009070|UMLS:C4310617|OMIM:617333		IDDDFP|intellectual developmental disorder with dysmorphic facies and ptosis|intellectual developmental disorder with dysmorphic facies and ptosis; IDDDFP	http://purl.obolibrary.org/obo/MONDO_0015022		UMLS:C4310617|http://identifiers.org/omim/617333
MONDO:0017683	methylcobalamin deficiency type cblDv1	biolink:Disease	mondo	Orphanet:308380|UMLS:CN203574|ICD10:E72.1	ordo_clinical_subtype	functional methionine synthase deficiency type cblDv1	http://purl.obolibrary.org/obo/MONDO_0017683		ORPHA:308380|UMLS:CN203574
MONDO:0005604	obsolete plasma cell leukemia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005604		
UBERON:0016880	future nervous system	biolink:AnatomicalEntity	mondo			presumptive nervous system	http://purl.obolibrary.org/obo/UBERON_0016880	Primordium that develops into the nervous system	
MONDO:0005603	pancreatic tubular adenocarcinoma	biolink:Disease	mondo	EFO:0006471		pancreas tubular adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005603	A tubular adenocarcinoma that involves the pancreas.	
MONDO:0005606	tubular adenocarcinoma	biolink:Disease	mondo	ICDO:8211/3|NCIT:C65192|DOID:4929|EFO:0006500|UMLS:C0205645		tubular adenocarcinoma|carcinoma, tubular cell, malignant|tubular carcinoma|tubular adenocarcinoma (morphologic abnormality)	http://purl.obolibrary.org/obo/MONDO_0005606	An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma.	DOID:4929|UMLS:C0205645|NCIT:C65192
MONDO:0005605	transitional cell papilloma	biolink:Disease	mondo	DOID:2670|UMLS:C0334266|EFO:0006497|NCIT:C4115|ICDO:8120/0		transitional cell papilloma NOS (morphologic abnormality)|transitional papilloma|transitional cell papilloma|transitional cell papilloma, benign (morphologic abnormality)|papilloma, transitional cell, benign|transitional cell papilloma, benign	http://purl.obolibrary.org/obo/MONDO_0005605	A benign papillary neoplasm composed of transitional cells which show preservation of the nuclear polarity.	DOID:2670|NCIT:C4115|UMLS:C0334266
MONDO:0005600	obsolete ovarian adenocarcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005600		
MONDO:0005602	ovarian teratoma	biolink:Disease	mondo	SCTID:716077006|DOID:5567|EFO:0006463|NCIT:C8110|UMLS:C0280131		ovarian teratoma|germ cell teratoma of ovary|teratoma of the ovary|teratoma of ovary|ovarian germ cell teratoma|germ cell teratoma of the ovary	http://purl.obolibrary.org/obo/MONDO_0005602	A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor.	NCIT:C8110|DOID:5567|UMLS:C0280131|SNOMEDCT:716077006
NCBITaxon:56251	Plagiorchioidea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_56251		
MONDO:0005601	ovarian mucinous adenocarcinoma	biolink:Disease	mondo	Orphanet:398961|UMLS:CN205033|ICD10:C56|EFO:0006462|NCIT:C5243|UMLS:C1335167|DOID:3606	ordo_disease	mucinous carcinoma of ovary|ovarian mucinous carcinoma|mucinous carcinoma of the ovary|mucinous adenocarcinoma of ovary|ovarian mucinous adenocarcinoma|mucinous adenocarcinoma of the ovary|ovary mucinous adenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005601	An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations.	DOID:3606|UMLS:CN205033|ORPHA:398961|NCIT:C5243|UMLS:C1335167
UBERON:0016888	transitional anatomical structure	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0016888	An embryonic anatomical entity that will turn into one or more other anatomical entities, perhaps with other anatomical entities, later in development.	
UBERON:0016887	entire extraembryonic component	biolink:AnatomicalEntity	mondo			extra-embryonic component|extraembryonic component	http://purl.obolibrary.org/obo/UBERON_0016887	The part of the conceptus that may be lost before birth or will be discarded at birth, or when the embryo becomes an independent organism.	
UBERON:0016884	shoulder joint	biolink:AnatomicalEntity	mondo			joint of shoulder region	http://purl.obolibrary.org/obo/UBERON_0016884	The joint that is formed by the union of the humerus, the scapula (or shoulder blade), and the clavicle (or collarbone). Commonly thought of as a single joint, the shoulder is actually made up of two separate joints - the glenohumeral and acromioclavicular joints	
UBERON:0016886	muscle tissue of terminal part of digestive tract	biolink:AnatomicalEntity	mondo			rectum muscle structure|rectum muscle	http://purl.obolibrary.org/obo/UBERON_0016886	Any muscle tissue of the distalmost portion of the digestive tract.	
CHEBI:47882	cyclic polypyrrole	biolink:ChemicalSubstance	mondo			macrocyclic polypyrroles|polypyrrole macrocycles|cyclic polypyrroles	http://purl.obolibrary.org/obo/CHEBI_47882		
UBERON:0016885	epithelium of terminal part of digestive tract	biolink:AnatomicalEntity	mondo			rectum epithelium	http://purl.obolibrary.org/obo/UBERON_0016885	Epithelium lining the distalmost portion of the digestive tract.	
CHEBI:33232	application	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_33232	Intended use of the molecular entity or part thereof by humans.	
CHEBI:33233	fundamental particle	biolink:ChemicalSubstance	mondo			elementary particles|elementary particle	http://purl.obolibrary.org/obo/CHEBI_33233	A particle not known to have substructure.	
UBERON:0002241	chondrocranium	biolink:AnatomicalEntity	mondo			neurocranium|calvarium	http://purl.obolibrary.org/obo/UBERON_0002241	Endoskeletal elements that encase the brain, nose, inner ear[cjm]. that part of the neurocranium formed by endochondral ossification and comprising the bones of the base of the skull[TFD].	
UBERON:0002240	spinal cord	biolink:AnatomicalEntity	mondo			medulla spinalis|fissura cerebrocerebellaris|cerebrocerebellar fissure|SpC|fissura cerebro-cerebellaris|spinal medulla|spinal cord structure|cerebro-cerebellar fissure	http://purl.obolibrary.org/obo/UBERON_0002240	Part of the central nervous system located in the vertebral canal continuous with and caudal to the brain; demarcated from brain by plane of foramen magnum. It is composed of an inner core of gray matter in which nerve cells predominate, and an outer layer of white matter in which myelinated nerve fibers predominate, and surrounds the central canal. (CUMBO)	
HGNC:17944	EXOSC3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17944		
CHEBI:33238	monoatomic entity	biolink:ChemicalSubstance	mondo			atomic entity|monoatomic entities	http://purl.obolibrary.org/obo/CHEBI_33238	A monoatomic entity is a molecular entity consisting of a single atom.	
CHEBI:59869	L-alpha-amino acid zwitterion	biolink:ChemicalSubstance	mondo			L-alpha-amino acid zwitterions|an L-alpha-amino acid	http://purl.obolibrary.org/obo/CHEBI_59869	Zwitterionic form of an L-alpha-amino acid having an anionic carboxy group and a protonated amino group.	
UBERON:0002247	uterine horn	biolink:AnatomicalEntity	mondo			cornu uteri	http://purl.obolibrary.org/obo/UBERON_0002247	either one of the pair of tubular extensions from the uterine body where the uterus and the uterine tubes meet; uterine horns are anterior Mullerian duct-derived structures	
UBERON:0002242	nucleus pulposus	biolink:AnatomicalEntity	mondo			nucleus pulposus (diskus intervertebralis)|nucleus propulsus|nucleus pulposus of intervertebral disk|pulpy nucleus|nucleus propulsus of intervertebral disk	http://purl.obolibrary.org/obo/UBERON_0002242	the jelly-like substance in the middle of the spinal disc which is a remnant of the notochord	
UBERON:0002244	premaxilla	biolink:AnatomicalEntity	mondo			premaxillae|os incisivum|premaxilla bone|premaxillary|premaxillary bone|incisive bone	http://purl.obolibrary.org/obo/UBERON_0002244	One of the bones of the upper jaw situated between and in front of the maxillae[VHOG].	
MONDO:0005615	plasmacytoma	biolink:Disease	mondo	MESH:D010954|Orphanet:86855|ICD10:C90.3|UMLS:C0032131|ICD10:C90.2|ICDO:9731/3|MedDRA:10035484|ICD9:238.6|ICD10:C90.30|GARD:0007404|NCIT:C9349|DOID:3721|EFO:0006738|SCTID:415112005	ordo_disease	solitary myeloma|plasmacytoma|anaplastic solitary extramedullary plasmacytoma of the cecum (type)|extramedullary anaplastic plasmacytoma (type)|myeloma, solitary|anaplastic skeletal plasmacytoma (type)|myeloma - solitary|anaplastic plasmacytoma|solitary plasmacytoma	http://purl.obolibrary.org/obo/MONDO_0005615	Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of the soft tissues. Of the extramedullary plasmacytomas, 80% occur in the head and neck, usually in the upper respiratory tract. The median age at diagnosis is 50 years and the male to female ratio is 3:1. Long-term survival is possible following local radiotherapy, particularly for soft tissue presentations.	MEDDRA:10035484|NCIT:C9349|SNOMEDCT:415112005|ORPHA:86855|DOID:3721|MESH:D010954|UMLS:C0032131
HGNC:29937	CCDC65	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29937		
MONDO:0005614	pancreatic adenosquamous carcinoma	biolink:Disease	mondo	EFO:0006732|ONCOTREE:PAASC|NCIT:C5721|UMLS:C1335299|DOID:5637		pancreatic adenoacanthoma|pancreas adenosquamous carcinoma|adenosquamous carcinoma of pancreas|pancreatic adenosquamous carcinoma|adenosquamous carcinoma of the pancreas|adenosquamous pancreas carcinoma|pancreatic adenosquamous cancer|pancreatic mucoepidermoid carcinoma|pancreatic mixed squamous and adenocarcinoma|PAASC	http://purl.obolibrary.org/obo/MONDO_0005614	A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma.	DOID:5637|UMLS:C1335299|NCIT:C5721
MONDO:0005617	undifferentiated carcinoma	biolink:Disease	mondo	UMLS:C0205698|ICDO:8021/3|ICDO:8020/3|EFO:0006772|NCIT:C3692		carcinoma, undifferentiated|carcinoma, undifferentiated, malignant|anaplastic carcinoma|undifferentiated carcinoma	http://purl.obolibrary.org/obo/MONDO_0005617	A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation.	UMLS:C0205698|NCIT:C3692
MONDO:0005616	pulmonary mucoepidermoid carcinoma	biolink:Disease	mondo	ONCOTREE:LUMEC|EFO:0006740|UMLS:C1708778|NCIT:C45544|DOID:0050932		lung mucoepidermoid carcinoma|mucoepidermoid carcinoma of the lung|lung mucoepidermoid cancer	http://purl.obolibrary.org/obo/MONDO_0005616	A lung carcinoma characterized by the presence of malignant non-keratinizing squamoid cells, mucin-producing cells and intermediate type cells.	UMLS:C1708778|DOID:0050932|NCIT:C45544
MONDO:0005611	bladder transitional cell carcinoma	biolink:Disease	mondo	EFO:0006544|UMLS:C0279680|SCTID:255109008|ONCOTREE:BLCA|DOID:4006|NCIT:C39851		urinary bladder transitional cell carcinoma|bladder urothelial carcinoma|transitional cell carcinoma of the urinary bladder|bladder urothelial cancer|urinary bladder urothelial carcinoma|urothelial carcinoma of the urinary bladder|urothelial bladder carcinoma|BLCA|transitional cell carcinoma of bladder|bladder transitional cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005611	The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival.	NCIT:C39851|SNOMEDCT:255109008|UMLS:C0279680|DOID:4006
MONDO:0005610	Kashin-Beck disease	biolink:Disease	mondo	ICD9:716.08|ICD9:716.06|ICD9:716.00|EFO:0006511|MESH:D057767|SCTID:270505009|UMLS:C2745963			http://purl.obolibrary.org/obo/MONDO_0005610	Disabling osteochondrodysplasia with osteosclerosis, cone-shaped metaphysis, and shortening of the diaphysis. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology.	SNOMEDCT:270505009|UMLS:C2745963|MESH:D057767
UBERON:0002228	rib	biolink:AnatomicalEntity	mondo			dorsal rib|pleural rib|ribs	http://purl.obolibrary.org/obo/UBERON_0002228	An intersegmental rod-shaped bone that forms in the peritoneal membrane and attach to the vertebral parapophyses.	
MONDO:0005613	mesonephric adenocarcinoma	biolink:Disease	mondo	EFO:0006719|NCIT:C4072|ICDO:9110/3		malignant Mesonephroma	http://purl.obolibrary.org/obo/MONDO_0005613	An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants.	NCIT:C4072
HGNC:29935	SPATA16	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29935		
MONDO:0005612	obsolete ovarian leiomyosarcoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005612		
GO:0046579	positive regulation of Ras protein signal transduction	biolink:OntologyClass	mondo			upregulation of Ras protein signal transduction|up-regulation of Ras protein signal transduction|up regulation of Ras protein signal transduction|activation of Ras protein signal transduction|stimulation of Ras protein signal transduction	http://purl.obolibrary.org/obo/GO_0046579	Any process that activates or increases the frequency, rate or extent of Ras protein signal transduction.	
UBERON:0016879	future central nervous system	biolink:AnatomicalEntity	mondo			presumptive central nervous system|future CNS	http://purl.obolibrary.org/obo/UBERON_0016879	Primordium that develops into the central nervous system	
GO:0046578	regulation of Ras protein signal transduction	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0046578	Any process that modulates the frequency, rate or extent of Ras protein signal transduction.	
HGNC:29932	COASY	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29932		
CHEBI:33242	inorganic hydride	biolink:ChemicalSubstance	mondo			inorganic hydrides	http://purl.obolibrary.org/obo/CHEBI_33242		
CHEBI:33245	organic fundamental parent	biolink:ChemicalSubstance	mondo			organic fundamental parents|organic parent hydrides	http://purl.obolibrary.org/obo/CHEBI_33245	An organic fundamental parent is a structure used as a basis for substitutive names in organic nomenclature, containing, in addition to one or more hydrogen atoms, a single atom of an element, a number of atoms (alike or different) linked together to form an unbranched chain, a monocyclic or polycyclic ring system, or a ring assembly or ring/chain system.	
CHEBI:33246	inorganic group	biolink:ChemicalSubstance	mondo			inorganic groups	http://purl.obolibrary.org/obo/CHEBI_33246	Any substituent group which does not contain carbon.	
CHEBI:33247	organic group	biolink:ChemicalSubstance	mondo			organic groups	http://purl.obolibrary.org/obo/CHEBI_33247	Any substituent group or skeleton containing carbon.	
CHEBI:33249	organyl group	biolink:ChemicalSubstance	mondo			organyl group|organyl groups|grupo organilo|grupos organilo|groupe organyle	http://purl.obolibrary.org/obo/CHEBI_33249	Any organic substituent group, regardless of functional type, having one free valence at a carbon atom.	
UBERON:0002236	costal cartilage	biolink:AnatomicalEntity	mondo			cartilago costalis|cartilagines costales|sternal cartilage	http://purl.obolibrary.org/obo/UBERON_0002236	the nonvascular, resilient, flexible hyaline connective tissue that connects the end of a true rib to the sternum or the end of a false rib with the with the lower border of the costal cartilage above it	
UBERON:0002237	true rib	biolink:AnatomicalEntity	mondo			costa vera|costae verae	http://purl.obolibrary.org/obo/UBERON_0002237	A rib that is ventrally connected to the sternum.	
MONDO:0005608	varicella zoster infection	biolink:Disease	mondo	ICD9:052.7|EFO:0006509|UMLS:C0586989|SCTID:309465005|NCIT:C96407		varicella zoster infection|Varicella-zoster Virus infection	http://purl.obolibrary.org/obo/MONDO_0005608	A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox.	SNOMEDCT:309465005|UMLS:C0586989|NCIT:C96407
UBERON:0004895	alveolar smooth muscle	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004895	Alveolar smooth muscle is a type of non-striated muscle, found within the walls of the alveolus	
MONDO:0005607	chronic bronchitis	biolink:Disease	mondo	EFO:0006505|SCTID:63480004|COHD:255841|NCIT:C26722|ICD9:491.9|ICD9:491|ICD9:491.8|UMLS:C0008677		bronchitis, chronic	http://purl.obolibrary.org/obo/MONDO_0005607	A type of chronic obstructive pulmonary disease characterized by chronic inflammation in the bronchial tree that results in edema, mucus production, obstruction, and reduced airflow to and from the lung alveoli. The most common cause is tobacco smoking. Signs and symptoms include coughing with excessive mucus production, and shortness of breath.	SNOMEDCT:63480004|UMLS:C0008677|NCIT:C26722
UBERON:0002234	proximal phalanx of manus	biolink:AnatomicalEntity	mondo			proximal phalanx of manual digit|proximal phalanx of hand|phalanx proximalis manus|proximal phalanx of fore digit|proximal manual phalanx|proximal phalanx of finger|hand proximal phalanx	http://purl.obolibrary.org/obo/UBERON_0002234	A proximal phalanx that is part of a finger [Automatically generated definition].	
CHEBI:33240	coordination entity	biolink:ChemicalSubstance	mondo			coordination compounds|coordination entity|coordination entities	http://purl.obolibrary.org/obo/CHEBI_33240	An assembly consisting of a central atom (usually metallic) to which is attached a surrounding array of other groups of atoms (ligands).	
UBERON:0004893	interalveolar septum	biolink:AnatomicalEntity	mondo			alveolar septum|septum interalveolare	http://purl.obolibrary.org/obo/UBERON_0004893	A the thin septum that separates adjacent pulmonary alveoli, containing connective tissue constituents of the respiratory tissue and the capillary network of the blood supply of the lung.	
MONDO:0005609	herpes zoster	biolink:Disease	mondo	SCTID:4740000|ICD10:B02|COHD:443943|MESH:D006562|DOID:8536|NCIT:C71079|EFO:0006510|ICD10:B02.9|UMLS:C0019360|ICD9:053		Zoster|postherpetic neuralgia|shingles|herpes Zoster|herpes zona	http://purl.obolibrary.org/obo/MONDO_0005609	A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area.	UMLS:C0019360|SNOMEDCT:4740000|MESH:D006562|NCIT:C71079|DOID:8536
UBERON:0004894	alveolar wall	biolink:AnatomicalEntity	mondo			pulmonary interalveolar septum|wall of pulmonary alveolus|pulmonary alveolar wall|alveolus wall	http://purl.obolibrary.org/obo/UBERON_0004894	A wall that contains the alveoli	
CHEBI:33241	oxoacid derivative	biolink:ChemicalSubstance	mondo			oxoacid derivatives	http://purl.obolibrary.org/obo/CHEBI_33241		
GO:0046580	negative regulation of Ras protein signal transduction	biolink:OntologyClass	mondo			inhibition of Ras protein signal transduction|downregulation of Ras protein signal transduction|down-regulation of Ras protein signal transduction|down regulation of Ras protein signal transduction	http://purl.obolibrary.org/obo/GO_0046580	Any process that stops, prevents, or reduces the frequency, rate or extent of Ras protein signal transduction.	
UBERON:0002217	synovial joint	biolink:AnatomicalEntity	mondo			diarthrosis joint|articulatio synoviale|diarthrodial joints|diarthroses|diarthrosis	http://purl.obolibrary.org/obo/UBERON_0002217	Joint in which the articulating bones or cartilages are connected by an articular capsule which encloses a synovial membrane and a synovial cavity. Examples: Temporomandibular joint, knee joint.[FMA]	
CHEBI:47867	indicator	biolink:ChemicalSubstance	mondo			Indikator	http://purl.obolibrary.org/obo/CHEBI_47867	Anything used in a scientific experiment to indicate the presence of a substance or quality, change in a body, etc.	
CHEBI:47868	photosensitizing agent	biolink:ChemicalSubstance	mondo			photosensitising agent	http://purl.obolibrary.org/obo/CHEBI_47868	A chemical compound that can be excited by light of a specific wavelength and subsequently transfer energy to a chosen reactant. This is commonly molecular oxygen within a cancer tissue, which is converted to (highly rective) singlet state oxygen. This rapidly reacts with any nearby biomolecules, ultimately killing the cancer cells.	
UBERON:0004880	chordamesoderm	biolink:AnatomicalEntity	mondo			presumptive notochord|chorda mesoderm|dorsal mesoderm|axial chorda mesoderm	http://purl.obolibrary.org/obo/UBERON_0004880	The central region of trunk mesoderm. This tissue forms the notochord	
HGNC:9009	PKD2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9009		
HGNC:17928	PSMC3IP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17928		
HGNC:9008	PKD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9008		
UBERON:0004888	right lung hilus	biolink:AnatomicalEntity	mondo			right lung hilum|right pulmonary hilus|hilus of right lung|hilum of right lung|right pulmonary hilum	http://purl.obolibrary.org/obo/UBERON_0004888	A lung hilus that is part of the right lung.	
UBERON:0004889	lobar bronchus vasculature	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004889	Vasculature that is composed of the tubule structures that carry blood or lymph in the lungs	
UBERON:0002224	thoracic cavity	biolink:AnatomicalEntity	mondo			thoracic lumen|cavitas thoracis|cavity of thorax|chest cavity|space of thoracic compartment|pectoral cavity|cavity of chest	http://purl.obolibrary.org/obo/UBERON_0002224	The part of the coelemic cavity lumen that is enclosed by the walls of the thorax.	
UBERON:0004886	lung hilus	biolink:AnatomicalEntity	mondo			hilum of lung|pulmonary hilus|hilum pulmonis|pulmonary hilum|lung hilum|hilus of lung	http://purl.obolibrary.org/obo/UBERON_0004886	A depression on the surface of the lung where the bronchus, blood vessels and nerves enter.	
UBERON:0004887	left lung hilus	biolink:AnatomicalEntity	mondo			hilum of left lung|left lung hilum|left pulmonary hilum|hilus of left lung|left pulmonary hilus	http://purl.obolibrary.org/obo/UBERON_0004887	A lung hilus that is part of the left lung.	
UBERON:0004884	lobar bronchus mesenchyme	biolink:AnatomicalEntity	mondo			mesenchyme of lobar bronchus	http://purl.obolibrary.org/obo/UBERON_0004884	The mass of tissue composed of mesenchymal cells in the lobar bronchus..	
HGNC:9005	PITX2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9005		
UBERON:0004885	hilum	biolink:AnatomicalEntity	mondo			hilus	http://purl.obolibrary.org/obo/UBERON_0004885	An anatomical cavity, depression or pit where structures are attached.	
HGNC:9006	PITX3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9006		
UBERON:0002223	endolymphatic sac	biolink:AnatomicalEntity	mondo			saccus endolymphaticus|saccus endolymphaticus	http://purl.obolibrary.org/obo/UBERON_0002223	From the posterior wall of the saccule a canal, the ductus endolymphaticus, is given off; this duct is joined by the ductus utriculosaccularis, and then passes along the aquaeductus vestibuli and ends in a blind pouch, the endolymphatic sac, on the posterior surface of the petrous portion of the temporal bone, where it is in contact with the dura mater. Studies suggest that the endolymphatic duct and endolymphatic sac perform both absorptive and secretory, as well as phagocytic and immunodefensive,functions . [WP,unvetted].	
UBERON:0004883	lung mesenchyme	biolink:AnatomicalEntity	mondo			lung-associated mesenchyme|pulmonary mesenchyme|mesenchyme of lung	http://purl.obolibrary.org/obo/UBERON_0004883	The mass of tissue made up of mesenchymal cells in the lung.	
HGNC:9004	PITX1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9004		
HGNC:29918	NDUFAF3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29918		
UBERON:0002209	fibrous joint	biolink:AnatomicalEntity	mondo			articulatio fibrosa|junctura fibrosa	http://purl.obolibrary.org/obo/UBERON_0002209	Nonsynovial joint in which the articulating bones or cartilages are connected by ligaments. Examples: sagittal suture, inferior tibiofibular syndesmosis, gomphosis.[FMA]	
UBERON:0004869	parietal organ	biolink:AnatomicalEntity	mondo			third eye|parietal eye	http://purl.obolibrary.org/obo/UBERON_0004869	A part of the epithalamus present in some animal species. The eye may be photoreceptive and is usually associated with the pineal gland, regulating circadian rhythmicity and hormone production for thermoregulation. The parietal eye is a part of the epithalamus, which can be divided into two major parts; the epiphysis (the pineal organ, or pineal gland if mostly endocrine) and the parietal organ (often called the parietal eye, or third eye if it is photoreceptive). It arises as an anterior evagination of the pineal organ or as a separate outgrowth of the roof of the diencephalon. In some species, it protrudes through the skull.[4] The parietal eye uses a different biochemical method of detecting light than rod cells or cone cells in a normal vertebrate eye[WP].	
CHEBI:47857	ureas	biolink:ChemicalSubstance	mondo			urea derivatives	http://purl.obolibrary.org/obo/CHEBI_47857		
HGNC:29914	NUP107	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/29914		
RO:0004047	causally upstream of or within, positive effect	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0004047		
UBERON:0016855	ventral part of optic cup	biolink:AnatomicalEntity	mondo			ventral region of optic cup|ventral optic cup	http://purl.obolibrary.org/obo/UBERON_0016855	The ventral region of the optic cup that gives rise to the ventral part of the retina.	
UBERON:0016854	dorsal part of optic cup	biolink:AnatomicalEntity	mondo			dorsal optic cup|dorsal region of optic cup	http://purl.obolibrary.org/obo/UBERON_0016854	The dorsal region of the optic cup that gives rise to the dorsal part of the retina.	
CHEBI:33229	vitamin	biolink:ChemicalSubstance	mondo			vitaminum|Vitamin|vitaminas|vitamine|vitamins|vitamines|vitamina	http://purl.obolibrary.org/obo/CHEBI_33229	A biochemical role played by any micronutrient that is an organic compound. Vitamins are present in foods in small amounts and are essential to normal metabolism and biochemical functions, usually as coenzymes. The term "vitamines" (from vita + amines) was coined in 1912 by Casimir Funk, who believed that these compounds were amines.	
RO:0004046	causally upstream of or within, negative effect	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0004046		
UBERON:0016853	interdigital gland	biolink:AnatomicalEntity	mondo			interdigital sinus	http://purl.obolibrary.org/obo/UBERON_0016853	A skin gland found in the interdigital region of some mammals	
UBERON:0016852	skin scent gland	biolink:AnatomicalEntity	mondo			cutaneous scent gland	http://purl.obolibrary.org/obo/UBERON_0016852	A scent gland that is part of the skin	
HGNC:17935	CD207	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/17935		
UBERON:0002213	cartilaginous joint	biolink:AnatomicalEntity	mondo			articulatio cartilaginea|junctura cartilaginea	http://purl.obolibrary.org/obo/UBERON_0002213	Nonsynovial joint in which the articulating bones or cartilages are connected by cartilage. Examples: Spheno-occipital synchondrosis, first sternocostal joint, pubic symphysis.[FMA]	
UBERON:0026246	sacral spinal cord white matter	biolink:AnatomicalEntity	mondo			sacral spinal cord white matter	http://purl.obolibrary.org/obo/UBERON_0026246		
NCBITaxon:404429	Echinostomatoidea	organism taxon	mondo	GC_ID:1		Fascioloidea|Cyclocoeloidea	http://purl.obolibrary.org/obo/NCBITaxon_404429		
UBERON:0002216	symphysis	biolink:AnatomicalEntity	mondo			secondary cartilaginous joint	http://purl.obolibrary.org/obo/UBERON_0002216	Cartilaginous joint in which the articulating bones or cartilages are connected by fibrocartilage. Examples: pubic symphysis, intervertebral symphysis, manubriosternal joint.[FMA]	
UBERON:0004875	nephrogenic cord	biolink:AnatomicalEntity	mondo			chorda nephrogenica	http://purl.obolibrary.org/obo/UBERON_0004875	A portion of the urogenital ridge which is the source of much of the urinary system[WP].	
UBERON:0004876	urogenital fold	biolink:AnatomicalEntity	mondo			urethral fold|urogenital fold|urogenital ridge	http://purl.obolibrary.org/obo/UBERON_0004876	One of of the pair of folds derived from the cloacal folds which give rise to a portion of the external genitalia; in male embryos they close over the urethral plate and fuse to form the spongy (penile) urethra and ventral aspect of the penis, not including the glans; failure of fusion of the urethral folds leads to hypospadias; in female embryos they fuse only anterior to the anus and form the labia minora[MP].	
UBERON:0002215	synchondrosis	biolink:AnatomicalEntity	mondo			epiphysial cartilage|primary cartilaginous joint|cartilago epiphysialis	http://purl.obolibrary.org/obo/UBERON_0002215	Cartilaginous joint in which the articulating bones or cartilages are connected by hyaline cartilage. Examples: spheno-occipital synchondrosis, first sternocostal joint.[FMA]	
UBERON:0002210	syndesmosis	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0002210	Fibrous joint in which the articulating bones or cartilages of the vertebral column and the limbs as well as articulating ossicles, are connected by skeletal ligaments or membranes. Examples: Intervertebral syndesmosis, inferior tibiofibular joint.[FMA]	
UBERON:0004873	splanchnopleure	biolink:AnatomicalEntity	mondo			ventral splanchnic mesoderm	http://purl.obolibrary.org/obo/UBERON_0004873	A structure created during embryogenesis when the lateral mesoderm splits into two layers - the inner (or splanchnic) layer adheres to the endoderm, and with it forms the splanchnopleure[WP].	
HGNC:9016	PKHD1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9016		
UBERON:0004874	somatopleure	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004874	A structure created during embryogenesis when the lateral mesoderm splits into two layers - the outer (or somatic) layer becomes applied to the inner surface of the ectoderm, and with it forms the somatopleure.[WP].	
UBERON:0004871	somatic layer of lateral plate mesoderm	biolink:AnatomicalEntity	mondo			somatic mesoderm|parietal mesoderm|outer layer of lateral plate mesoderm	http://purl.obolibrary.org/obo/UBERON_0004871	Layer of lateral plate mesoderm that forms the future body wall - underlies the ectoderm[WP].	
CHEBI:35881	pnictogen hydride	biolink:ChemicalSubstance	mondo			pnictogen hydride|pnictogen hydrides	http://purl.obolibrary.org/obo/CHEBI_35881		
UBERON:0004872	splanchnic layer of lateral plate mesoderm	biolink:AnatomicalEntity	mondo			visceral mesoderm|splanchnic mesoderm|inner layer of lateral plate mesoderm	http://purl.obolibrary.org/obo/UBERON_0004872	Layer of lateral plate mesoderm that forms the circulatory system and future gut wall - overlies endoderm[WP].	
UBERON:0002211	nerve root	biolink:AnatomicalEntity	mondo			initial segment of nerve|radix nervi	http://purl.obolibrary.org/obo/UBERON_0002211	A continuation of the neuron projection bundle component of a nerve inside, crossing or immediately outside the central nervous system.	
MONDO:0005648	aortic valve insufficiency	biolink:Disease	mondo	UMLS:C0155568|NCIT:C51223|EFO:0007148|COHD:439834|UMLS:C0003504|ICD9:395.1|ICD9:396.3|MESH:D001022|DOID:57|SCTID:78031003|ICD10:I06.1		aortic insufficiency|rheumatic aortic insufficiency|rheumatic aortic valve insufficiency|aortic regurgitation|Corrigan's disease|rheumatic aortic regurgitation|aortic incompetence|rheumatic aortic valve regurgitation	http://purl.obolibrary.org/obo/MONDO_0005648	Dysfunction of the aortic valve characterized by incomplete valve closure.	SNOMEDCT:78031003|UMLS:C0155568|DOID:57|UMLS:C0003504|MESH:D001022|NCIT:C51223
MONDO:0005647	anogenital human papillomavirus infection	biolink:Disease	mondo	EFO:0007147|ICD9:078.11|COHD:198075|DOID:11168|SCTID:266113007|NCIT:C4820|ICD10:A63.0|MESH:D003218		anogenital Human papilloma Virus infectious disease|anogenital Warts|anogenital Human Papillomavirus infection|condyloma acuminatum|genital wart virus infectious disease|anogenital Human papilloma Virus infection|genital Warts|venereal wart|anogenital venereal wart	http://purl.obolibrary.org/obo/MONDO_0005647	A sexually transmitted papillary growth caused by the human papillomavirus. It usually arises in the skin and mucous membranes of the perianal region and external genitalia.	SNOMEDCT:266113007|DOID:11168|MESH:D003218|NCIT:C4820
RO:0004030	disease arises from structure	biolink:OntologyClass	mondo	RO:0004030			http://purl.obolibrary.org/obo/RO_0004030	A relationship between a disease and an anatomical structure where the material basis of the disease is some pathological change in the structure.	
MONDO:0005649	appendicitis	biolink:Disease	mondo	EFO:0007149|ICD10:K37|UMLS:C0003615|SCTID:74400008|ICD9:541|MESH:D001064|COHD:440448|NCIT:C35145|ICD9:540-543.99|DOID:8337		inflammation of vermiform appendix|acute appendicitis|acute appendicitis with generalized peritonitis|vermiform appendix inflammation|acute appendicitis with peritoneal abscess	http://purl.obolibrary.org/obo/MONDO_0005649	Acute inflammation of the vermiform appendix.	DOID:8337|UMLS:C0003615|MESH:D001064|SNOMEDCT:74400008|NCIT:C35145
MONDO:0005644	amebiasis	biolink:Disease	mondo	NCIT:C84551|EFO:0007144|ICD9:006|ICD9:006.9|ICD10:A06|MESH:D000562|UMLS:C0002438|ICD10:A06.9|DOID:9181		chronic intestinal amebiasis|amoebiasis|entamoebiasis	http://purl.obolibrary.org/obo/MONDO_0005644	A parasitic infectious disorder caused by amoebas. The parasite may cause colitis which is manifested with bloody diarrhea, abdominal pain, nausea and fever. In rare cases it may spread to the liver, brain and lungs.	DOID:9181|NCIT:C84551|UMLS:C0002438|MESH:D000562
NCBITaxon:56210	Calomys callosus	organism taxon	mondo	GC_ID:1		large vesper mouse	http://purl.obolibrary.org/obo/NCBITaxon_56210		
MONDO:0005643	Alphavirus infectious disease	biolink:Disease	mondo	MESH:D018354|EFO:0007142|UMLS:C0206752		Alphavirus disease or disorder|Alphavirus caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005643	Virus diseases caused by members of the alphavirus genus of the family togaviridae.	MESH:D018354|UMLS:C0206752
HGNC:9020	PKLR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9020		
MONDO:0005646	obsolete anisakiasis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005646		
MONDO:0005645	ancylostomiasis	biolink:Disease	mondo	GARD:0009742|EFO:0007145|DOID:12841|MedDRA:10020376|ICD10:B76.1|MESH:D000724|UMLS:C0002831|MedDRA:10002255|ICD10:B76.9|ICD10:B76.8|ICD10:B76.0|ICD9:126.9|NCIT:C35805|ICD9:126.8|Orphanet:78|MONDO:0019184|SCTID:63479002	ordo_disease	Ancylostoma duodenale infection|Ancylostoma infectious disease|Ancylostoma caused disease or disorder|hookworm infection|Ancylostoma disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005645	Infection by hookworms of the genus Ancylostoma.	MEDDRA:10020376|UMLS:C0019911|MESH:D006725|MEDDRA:10002255|DOID:12841|SNOMEDCT:63479002|ORPHA:78|UMLS:C0002831|NCIT:C35805|MESH:D000724
MONDO:0005640	akinetic mutism	biolink:Disease	mondo	SCTID:53333005|MESH:D000405|DOID:4267|EFO:0007138|UMLS:C0001889		Coma vigilans (finding)|Coma vigilans	http://purl.obolibrary.org/obo/MONDO_0005640	A syndrome characterized by a silent and inert state without voluntary motor activity despite preserved sensorimotor pathways and vigilance. Bilateral frontal lobe dysfunction involving the anterior cingulate gyrus and related brain injuries are associated with this condition. This may result in impaired abilities to communicate and initiate motor activities. (From Adams et al., Principles of Neurology, 6th ed, p348; Fortschr Neurol Psychiatr 1995 Feb;63(2):59-67)	MESH:D000405|DOID:4267|UMLS:C0001889|SNOMEDCT:53333005
RO:0004035	acts upstream of, negative effect	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0004035	c 'acts upstream of, negative effect' p if c is enables f, and f is causally upstream of p, and the direction of f is negative	
MONDO:0005642	atopic conjunctivitis	biolink:Disease	mondo	HP:0007879|ICD9:372.14|DOID:11204|EFO:0007141|SCTID:473460002|UMLS:C0009766|NCIT:C34506		allergic form of conjunctivitis (disease)|Atopic conjunctivitis|allergic conjunctivitis (disease)|allergic conjunctivitis	http://purl.obolibrary.org/obo/MONDO_0005642	Conjunctivitis due to hypersensitivity to various allergens.	DOID:11204|SNOMEDCT:473460002|UMLS:C0009766|NCIT:C34506
MONDO:0005641	aleutian mink disease	biolink:Disease	mondo	DOID:2934|ICD9:079.89|SCTID:62251004|MESH:D000453|UMLS:C0002016|EFO:0007139		Aleutian mink disease virus infectious disease|Aleutian mink disease virus caused disease or disorder|Aleutian disease|Aleutian mink disease virus disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005641	A slow progressive disease of mink caused by the aleutian mink disease virus. It is characterized by poor reproduction, weight loss, autoimmunity, hypergammaglobulinemia, increased susceptibility to bacterial infections, and death from renal failure. The disease occurs in all color types, but mink which are homozygous recessive for the Aleutian gene for light coat color are particularly susceptible.	DOID:2934|UMLS:C0002016|SNOMEDCT:62251004|MESH:D000453
RO:0004032	acts upstream of or within, positive effect	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0004032		
RO:0004031	enables subfunction	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0004031	Holds between an entity and an process P where the entity enables some larger compound process, and that larger process has-part P.	
RO:0004034	acts upstream of, positive effect	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0004034	c 'acts upstream of, positive effect' p if c is enables f, and f is causally upstream of p, and the direction of f is positive	
RO:0004033	acts upstream of or within, negative effect	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0004033		
MONDO:0017637	rare parkinsonian syndrome due to intoxication	biolink:Disease	mondo	Orphanet:306679|UMLS:CN203533	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0017637		UMLS:CN203533|ORPHA:306679
UBERON:0002283	nail matrix	biolink:AnatomicalEntity	mondo			onychostroma|keratogenous membrane|matrix unguis|nail germinal matrix|nail root	http://purl.obolibrary.org/obo/UBERON_0002283	Portion of tissue (or germinal matrix) upon which the nail rests, the part of the nail bed that extends beneath the nail root and contains nerves, lymph and blood vessels. The matrix is responsible for the production of the cells that become the nail plate. The width and thickness of the nail plate is determined by the size, length, and thickness of the matrix, while the shape of the fingertip itself determines if the nail plate is flat, arched, or hooked. The matrix will continue to grow as long as it receives nutrition and remains in a healthy condition. As new nail plate cells are incubated, they emerge from the matrix round and white to push older nail plate cells forward; and in this way yet older cells become compressed, flat, and translucent, making the pink colour of the capillaries in the nail bed below visible[WP].	
MONDO:0017638	manganese poisoning	biolink:Disease	mondo	ICD10:T57.2|MESH:D020149|ICD9:503|MedDRA:10058951|Orphanet:306682|SCTID:88687001|EFO:1001808	ordo_disease	manganese intoxication|Manganism	http://purl.obolibrary.org/obo/MONDO_0017638	Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include confusion; hallucinations; and an extrapyramidal syndrome (parkinson disease, secondary) that includes rigidity; dystonia; retropulsion; and tremor. (Adams, Principles of Neurology, 6th ed, p1213)	MEDDRA:10058951|UMLS:C0677050|MESH:D020149|SNOMEDCT:88687001|ORPHA:306682
UBERON:0002285	telencephalic ventricle	biolink:AnatomicalEntity	mondo			forebrain ventricle|telencephalic vesicle|telencephalic ventricle|lateral ventricle of brain|telencephalon lateral ventricle|telencephalic ventricles|lateral ventricles|tectal ventricle|lateral ventricle	http://purl.obolibrary.org/obo/UBERON_0002285	A brain ventricle that is part of a telencephalon. In mammals and species with an evaginated telencephalon, this is one of a pair of lateral structures, one in each hemisphere	
MONDO:0017639	carbon monoxide-induced parkinsonism	biolink:Disease	mondo	UMLS:C0393565|ICD10:G21.2|Orphanet:306686|SCTID:230293003	ordo_disease	CO-induced parkinsonism	http://purl.obolibrary.org/obo/MONDO_0017639		UMLS:C0393565|SNOMEDCT:230293003|ORPHA:306686
MONDO:0017633	rare intoxication due to medical products	biolink:Disease	mondo	UMLS:CN227165|Orphanet:306640	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0017633		UMLS:CN227165|ORPHA:306640
RO:0004029	disease has feature	biolink:OntologyClass	mondo	RO:0004029			http://purl.obolibrary.org/obo/RO_0004029	A relationship between a disease and some feature of that disease, where the feature is either a phenotype or an isolated disease.	
RO:0004028	realized in response to stimulus	biolink:OntologyClass	mondo	RO:0004028			http://purl.obolibrary.org/obo/RO_0004028	A relationship between a realizable entity R (e.g. function or disposition) and a material entity M where R is realized in response to a process that has an input stimulus of M.	
MONDO:0017634	non-infectious anterior uveitis	biolink:Disease	mondo	UMLS:C0339317|SCTID:267619000|Orphanet:306648	ordo_group_of_disorders	non-infectious iridocyclitis	http://purl.obolibrary.org/obo/MONDO_0017634		SNOMEDCT:267619000|ORPHA:306648|UMLS:C0339317
MONDO:0017635	parkinsonian syndrome due to neurodegenerative disease	biolink:Disease	mondo	Orphanet:306666|UMLS:CN203530	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017635		UMLS:CN203530|ORPHA:306666
CHEBI:35856	lipoxygenase inhibitor	biolink:ChemicalSubstance	mondo			lipoxygenase inhibitors|lipooxygenase inhibitor	http://purl.obolibrary.org/obo/CHEBI_35856	A compound or agent that combines with lipoxygenase and thereby prevents its substrate-enzyme combination with arachidonic acid and the formation of the icosanoid products hydroxyicosatetraenoic acid and various leukotrienes.	
MONDO:0017636	hemiparkinsonism-hemiatrophy syndrome	biolink:Disease	mondo	Orphanet:306669|ICD10:G20|UMLS:CN203531	ordo_disease	Hp-HA syndrome	http://purl.obolibrary.org/obo/MONDO_0017636	Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantars are frequently associated.	UMLS:CN203531|ORPHA:306669
NCBITaxon:8028	Salmo	organism taxon	mondo	GC_ID:1		Salmothymus|Acantholingua	http://purl.obolibrary.org/obo/NCBITaxon_8028		
HGNC:9023	PKP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9023		
MONDO:0017630	X-linked complicated spastic paraplegia type 1	biolink:Disease	mondo	GARD:0012525|UMLS:CN203524|Orphanet:306617	ordo_clinical_subtype	SPG1	http://purl.obolibrary.org/obo/MONDO_0017630	An X-linked form of L1 syndrome characterized by spastic paraplegia, mild to moderate intellectual disability, normal MRI of the brain.	UMLS:CN203524|ORPHA:306617
HGNC:9024	PKP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9024		
MONDO:0017631	rare tumor of gallbladder and extrahepatic biliary tract	biolink:Disease	mondo	Orphanet:306633|UMLS:C0750952	ordo_group_of_disorders|obsoletion_candidate	rare tumor of gallbladder and EBT	http://purl.obolibrary.org/obo/MONDO_0017631		UMLS:C0750952|ORPHA:306633
NCBITaxon:56212	Calomys musculinus	organism taxon	mondo	GC_ID:1		drylands vesper mouse	http://purl.obolibrary.org/obo/NCBITaxon_56212		
MONDO:0017632	obsolete rare tumor of liver and intrahepatic biliary tract	biolink:Disease	mondo	Orphanet:306636	obsoletion_candidate|ordo_group_of_disorders	rare liver and intrahepatic bile duct neoplasm|rare tumor of liver and IBT	http://purl.obolibrary.org/obo/MONDO_0017632	Any of the forms of liver and intrahepatic bile duct neoplasm that have a rare incidence.	ORPHA:306636
NCBITaxon:56211	Calomys laucha	organism taxon	mondo	GC_ID:1		small vesper mouse	http://purl.obolibrary.org/obo/NCBITaxon_56211		
UBERON:0002286	third ventricle	biolink:AnatomicalEntity	mondo			3rd ventricle|ventriculus diencephali|ventriculus tertius cerebri|diencephalic vesicle|diencephalic ventricle	http://purl.obolibrary.org/obo/UBERON_0002286	Part of the ventricular system of the brain, forming a single large cavity in the midline of the diencephalon; it is continuous with the lateral ventricles through the interventricular foramen and the fourth ventricle through the cerebral aqueduct. (Maryann Martone)	
NCBITaxon:8022	Oncorhynchus mykiss	organism taxon	mondo	GC_ID:1		rainbow trout|Oncorhynchus nerka mykiss|Salmo mykiss|Parasalmo mykiss	http://purl.obolibrary.org/obo/NCBITaxon_8022		
UBERON:0002288	choroid plexus of third ventricle	biolink:AnatomicalEntity	mondo			chorioid plexus of cerebral hemisphere of third ventricle|third ventricle choroid plexus|choroid plexus third ventricle|third ventricle chorioid plexus of cerebral hemisphere|3rd ventricle choroid plexus|diencephalic choroid plexus|chorioid plexus of third ventricle	http://purl.obolibrary.org/obo/UBERON_0002288	Part of choroid plexus contained in the third ventricle	
MONDO:0005659	atrophic rhinitis	biolink:Disease	mondo	UMLS:C0035459|EFO:0007159|UMLS:C0030105|MESH:D012222|SCTID:69646003|DOID:4731		rhinitis, atrophic|ozena|rhinitis sicca|dry rhinitis|Ozaena	http://purl.obolibrary.org/obo/MONDO_0005659	A chronic inflammation in which the nasal mucosa gradually changes from a functional to a non-functional lining without mucociliary clearance. It is often accompanied by degradation of the bony turbinates, and the foul-smelling mucus which forms a greenish crust (ozena).	UMLS:C0035459|UMLS:C0030105|MESH:D012222|DOID:4731|SNOMEDCT:69646003
MONDO:0005658	Astroviridae infectious disease	biolink:Disease	mondo	EFO:0007158|MESH:D019350|UMLS:C0376550			http://purl.obolibrary.org/obo/MONDO_0005658	Infections with astrovirus, causing gastroenteritis in human infants, calves, lambs, and piglets.	UMLS:C0376550|MESH:D019350
MONDO:0005655	ascaridiasis	biolink:Disease	mondo	MESH:D001198|EFO:0007155|SCTID:76160002|DOID:3108|ICD10:B77|UMLS:C0003952		infection by Ascaridia|ascaridiosis|infection caused by Ascaridia|Ascaridia infectious disease|Ascaridia caused disease or disorder|Ascaridia disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005655	Infection with nematodes of the genus ascaridia. This condition usually occurs in fowl, often manifesting diarrhea.	SNOMEDCT:76160002|MESH:D001198|UMLS:C0003952|DOID:3108
MONDO:0005654	ascariasis	biolink:Disease	mondo	UMLS:C0003950|DOID:456|NCIT:C128392|COHD:192259|EFO:0007154|CSP:1248-7284|SCTID:2435008|ICD9:127.0|MESH:D001196|ICD10:B77.9|ICD10:B77		Ascaris lumbricoides infectious disease|Ascaris lumbricoides disease or disorder|Ascaris lumbricoides caused disease or disorder|ascariasis - roundworm|Ascaris lumbricoides infection	http://purl.obolibrary.org/obo/MONDO_0005654	An infection that is caused by the roundworm Ascaris lumbricoides, many cases of which remain asymptomatic. During the transient larval migratory phase, shortness of breath, fever, and eosinophilia can occur. Depending on the intestinal worm burden, a spectrum of gastrointestinal tract symptoms can occur.	UMLS:C0003950|MESH:D001196|DOID:456|SNOMEDCT:2435008|NCIT:C128392
CHEBI:23888	drug	biolink:ChemicalSubstance	mondo			medicine|drugs	http://purl.obolibrary.org/obo/CHEBI_23888	Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances.	
MONDO:0005657	aspergillosis	biolink:Disease	mondo	ICD9:117.3|ICD10:B44.8|EFO:0007157|Orphanet:1163|ICD10:B44.7|UMLS:C0004030|ICD10:B44|DOID:13564|ICD10:B44.9|ICD10:B44.2|MedDRA:10003488|SCTID:65553006|NCIT:C2886|ICD10:B44.1|MESH:D001228|ICD10:B44.0|COHD:434281|GARD:0005856|CSP:1988-4002	ordo_disease|gard_rare	infection due to Aspergillus	http://purl.obolibrary.org/obo/MONDO_0005657	Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus. There are several different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing and coughing, but does not actually invade and destroy tissue. Another kind of aspergillosis is invasive aspergillosis. This infection usually affects people with weakened immune systems due to cancer, AIDS, leukemia, organ transplantation, chemotherapy, or other conditions or events that reduce the number of normal white blood cells. In this condition, the fungus invades and damages tissues in the body. Invasive aspergillosis most commonly affects the lungs, but can also cause infection in many other organs and can spread throughout the body (commonly affecting the kidneys and brain). Aspergilloma, a growth (fungus ball) that develops in an area of previous lung disease such as tuberculosis or lung abscess, is a third kind of aspergillosis. This type of aspergillosis is composed of a tangled mass of fungus fibers, blood clots, and white blood cells. The fungus ball gradually enlarges, destroying lung tissue in the process, but usually does not spread to other areas.	MEDDRA:10003488|UMLS:C0004030|MESH:D001228|ORPHA:1163|NCIT:C2886|SNOMEDCT:65553006|DOID:13564
MONDO:0005656	Ascaridida infectious disease	biolink:Disease	mondo	EFO:0007156|MESH:D017191		Ascaridida caused disease or disorder|infection, Ascaridida|Ascaridida disease or disorder|infections, Ascaridida|Ascaridida infection	http://purl.obolibrary.org/obo/MONDO_0005656	Infections with nematodes of the order ascaridida.	MESH:D017191
MONDO:0005651	arenavirus hemorrhagic fever	biolink:Disease	mondo	UMLS:C0153112|EFO:0007151|SCTID:73730005|ICD9:078.7		arenaviral hemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0005651	A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus.	UMLS:C0153112|SNOMEDCT:73730005
RO:0004025	disease causes dysfunction of	biolink:OntologyClass	mondo	RO:0004025			http://purl.obolibrary.org/obo/RO_0004025		
MONDO:0005650	Arenaviridae infectious disease	biolink:Disease	mondo	DOID:3944|ICD9:078.89|EFO:0007150|SCTID:3303004|MESH:D001117		arenavirus infectious disease|Arenaviridae disease or disorder|infection, Arenaviridae|infection, arenavirus|Arenaviridae caused disease or disorder|infections, Arenaviridae|disease due to arenavirus|arenavirus infections|Arenaviridae infection|infections, arenavirus|disease caused by arenavirus|arenavirus infection	http://purl.obolibrary.org/obo/MONDO_0005650	Virus diseases caused by the arenaviridae.	MESH:D001117|SNOMEDCT:3303004|DOID:3944
RO:0004024	disease disrupts	biolink:OntologyClass	mondo	RO:0004024			http://purl.obolibrary.org/obo/RO_0004024	A relationship between a disease and a process where the disease process disrupts the execution of the process.	
MONDO:0005653	obsolete asbestosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005653		
RO:0004027	disease has inflammation site	biolink:OntologyClass	mondo	RO:0004027			http://purl.obolibrary.org/obo/RO_0004027	A relationship between a disease and an anatomical entity where the disease is triggered by an inflammatory response to stimuli occurring in the anatomical entity	
RO:0004026	disease has location	biolink:OntologyClass	mondo	RO:0004026			http://purl.obolibrary.org/obo/RO_0004026	A relationship between a disease and an anatomical entity where the disease has one or more features that are located in that entity.	
MONDO:0005652	Arterivirus infectious disease	biolink:Disease	mondo	EFO:0007152|UMLS:C0206604|MESH:D018174		Arterivirus caused disease or disorder|Arterivirus disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005652	Infections caused by viruses of the genus arterivirus.	UMLS:C0206604|MESH:D018174
MONDO:0017619	congenital sucrase-isomaltase deficiency with minimal starch tolerance	biolink:Disease	mondo	ICD10:E74.3|Orphanet:306446	ordo_clinical_subtype	congenital sucrase-isomaltose malabsorption with minimal starch tolerance|congenital sucrose intolerance with minimal starch tolerance|disaccharide intolerance with minimal starch tolerance|CSID with minimal starch tolerance	http://purl.obolibrary.org/obo/MONDO_0017619		ORPHA:306446
RO:0004021	disease has basis in disruption of	biolink:OntologyClass	mondo	RO:0004021			http://purl.obolibrary.org/obo/RO_0004021	A relation that holds between the disease and a process where the physical basis of the disease disrupts execution of a key biological process.	
RO:0004020	disease has basis in dysfunction of	biolink:OntologyClass	mondo	RO:0004020			http://purl.obolibrary.org/obo/RO_0004020	A relation that holds between the disease and a material entity where the physical basis of the disease is a disorder of that material entity that affects its function.	
RO:0004023	causal relationship with disease as subject	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0004023		
RO:0004022	disease arises from feature	biolink:OntologyClass	mondo	RO:0004022			http://purl.obolibrary.org/obo/RO_0004022	A relation that holds between the disease and a feature (a phenotype or other disease) where the physical basis of the disease is the feature.	
MONDO:0017626	familial primary hypomagnesemia with normocalcuria	biolink:Disease	mondo	ICD10:E83.4|Orphanet:306522|UMLS:CN227164	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017626	Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type.	UMLS:CN227164|ORPHA:306522
NCBITaxon:8030	Salmo salar	organism taxon	mondo	GC_ID:1		Atlantic salmon	http://purl.obolibrary.org/obo/NCBITaxon_8030		
MONDO:0017627	congenital hereditary facial paralysis-variable hearing loss syndrome	biolink:Disease	mondo	ICD10:Q87.0|Orphanet:306530|SCTID:722389002	ordo_morphological_anomaly	congenital hereditary facial paralysis-variable deafness syndrome|congenital hereditary facial palsy with variable hearing loss|congenital hereditary facial paralysis with variable deafness|congenital hereditary facial palsy with variable deafness	http://purl.obolibrary.org/obo/MONDO_0017627	Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus.	ORPHA:306530|SNOMEDCT:722389002
MONDO:0017628	myospherulosis	biolink:Disease	mondo	ICD9:136.8|SCTID:81139004|Orphanet:306553|UMLS:C0027123	ordo_disease	subcutaneous spherulocystic disease|spherulocytosis	http://purl.obolibrary.org/obo/MONDO_0017628		SNOMEDCT:81139004|UMLS:C0027123|ORPHA:306553
HP:0006705	Abnormal atrioventricular valve morphology	biolink:PhenotypicFeature	mondo	UMLS:C4024995		Abnormality of the atrioventricular valves	http://purl.obolibrary.org/obo/HP_0006705	An abnormality of an atrioventricular valve.	
MONDO:0017629	sodium channelopathy-related small fiber neuropathy	biolink:Disease	mondo	Orphanet:306577	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017629		ORPHA:306577
MONDO:0017622	congenital sucrase-isomaltase deficiency without sucrose intolerance	biolink:Disease	mondo	Orphanet:306486|ICD10:E74.3	ordo_clinical_subtype	congenital sucrose-isomaltose malabsorption without sucrose intolerance|disaccharide intolerance without sucrose intolerance|CSID without sucrose intolerance	http://purl.obolibrary.org/obo/MONDO_0017622		ORPHA:306486
RO:0004018	is basis for realizable	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0004018		
RO:0004017	realizable has basis in	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0004017		
MONDO:0017623	PTEN hamartoma tumor syndrome	biolink:Disease	mondo	SCTID:722859001|UMLS:C1959582|DOID:0080191|Orphanet:306498|GARD:0012800	gard_rare|ordo_group_of_disorders|clingen	PHTS	http://purl.obolibrary.org/obo/MONDO_0017623	A group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome belong to PHTS.	ORPHA:306498|DOID:0080191|SNOMEDCT:722859001|UMLS:C1959582
MONDO:0017624	familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis	biolink:Disease	mondo	Orphanet:306516|ICD10:E83.4|GARD:0009891|UMLS:CN203511	gard_rare|ordo_group_of_disorders	FHHNC|Michellis-Castrillo syndrome	http://purl.obolibrary.org/obo/MONDO_0017624	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN).	UMLS:CN203511|ORPHA:306516
UBERON:0002270	hyaloid artery	biolink:AnatomicalEntity	mondo			hyaloid arteries|central artery of retina|arteria hyaloidea|Cloquets canal|Cloquet's canal	http://purl.obolibrary.org/obo/UBERON_0002270	An artery that is part of the optic stalk of the eye and extends from the optic disc through the vitreous humor to the lens.	
MONDO:0017625	familial primary hypomagnesemia with hypocalcuria	biolink:Disease	mondo	SCTID:711151004|UMLS:CN227163|Orphanet:306519	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017625		UMLS:CN227163|ORPHA:306519|SNOMEDCT:711151004
RO:0004019	disease has basis in	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0004019		
CHEBI:59814	L-alpha-amino acid anion	biolink:ChemicalSubstance	mondo			L-alpha-amino carboxylate	http://purl.obolibrary.org/obo/CHEBI_59814	Conjugate base of an L-alpha-amino acid arising from deprotonation of the C-1 carboxy group.	
UBERON:0002279	vestibular aqueduct	biolink:AnatomicalEntity	mondo			aqueductus vestibuli	http://purl.obolibrary.org/obo/UBERON_0002279	At the hinder part of the medial wall of the vestibule is the orifice of the vestibular aqueduct, which extends to the posterior surface of the petrous portion of the temporal bone. It transmits a small vein, and contains a tubular prolongation of the membranous labyrinth, the ductus endolymphaticus, which ends in a cul-de-sac between the layers of the dura mater within the cranial cavity. [WP,unvetted].	
MONDO:0017620	congenital sucrase-isomaltase deficiency without starch intolerance	biolink:Disease	mondo	ICD10:E74.3|Orphanet:306462	ordo_clinical_subtype	CSID without starch intolerance|disaccharide intolerance without starch intolerance|congenital sucrose intolerance without starch intolerance|congenital sucrase-isomaltose malabsorption without starch intolerance	http://purl.obolibrary.org/obo/MONDO_0017620		ORPHA:306462
MONDO:0017621	congenital sucrase-isomaltase deficiency with starch and lactose intolerance	biolink:Disease	mondo	Orphanet:306474|ICD10:E74.3	ordo_clinical_subtype	congenital sucrase-isomaltose malabsorption with starch and lactose intolerance|congenital sucrose intolerance with starch and lactose intolerance|disaccharide intolerance with starch and lactose intolerance|CSID with starch and lactose intolerance	http://purl.obolibrary.org/obo/MONDO_0017621		ORPHA:306474
HGNC:9038	PLA2G5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9038		
UBERON:0002275	reticular formation	biolink:AnatomicalEntity	mondo			brain stem reticular formation|brainstem reticular formation|reticular formation of the brainstem|reticular formation (classical)	http://purl.obolibrary.org/obo/UBERON_0002275	A composite substructure of the brainstem that consists of the midbrain reticular formation, the pontine reticular formation and the medullary reticular formation ( Carpenter-1983 ).	
HGNC:9039	PLA2G6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9039		
MONDO:0005626	epithelial neoplasm	biolink:Disease	mondo	NCIT:C3709|MESH:D009375|SCTID:118285006|EFO:0006858		epithelioma|epithelial neoplasm|epithelial neoplasms, NOS	http://purl.obolibrary.org/obo/MONDO_0005626	A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas.	SNOMEDCT:118285006|NCIT:C3709|MESH:D009375
MONDO:0005625	cerebral malaria	biolink:Disease	mondo	MESH:D016779|UMLS:C0024534|DOID:14069|NCIT:C128373|Wikipedia:Malaria|ICD9:084.9|ICD10:B50.0|SCTID:53622003|EFO:0006857		malarial encephalitis	http://purl.obolibrary.org/obo/MONDO_0005625	A sequestration of Plasmodium falciparum in the brain, which can cause coma and/or seizures.	NCIT:C128373|UMLS:C0024534|SNOMEDCT:53622003|MESH:D016779|DOID:14069
MONDO:0005628	male breast carcinoma	biolink:Disease	mondo	SCTID:372095001|UMLS:C0238033|NCIT:C3862|MESH:D018567|EFO:0006861|UMLS:C0242787|DOID:1614|GARD:0009312|ICD9:175.9|UMLS:C0242788		carcinoma of the Male breast|carcinoma of Male breast|breast cancer in men|Male breast cancer|male breast cancer|Male breast carcinoma|neoplasm of male breast|malignant neoplasm of male breast|breast cancer, male|carcinoma of male breast|male breast carcinoma	http://purl.obolibrary.org/obo/MONDO_0005628	A malignant neoplasm involving the male breast.	MESH:D018567|DOID:1614|SNOMEDCT:372095001|UMLS:C0238033|NCIT:C3862|UMLS:C0242788|UMLS:C0242787
MONDO:0005627	head and neck cancer	biolink:Disease	mondo	UMLS:C0278996|NCIT:C4013|DOID:11934|EFO:0006859		malignant head and neck tumor|malignant neoplasm of craniocervical region|head and neck malignant neoplasia|malignant tumor of the head and neck|craniocervical region cancer|malignant tumor of head and neck|cancer of the head and neck|malignant head and neck neoplasm|cancer of head and neck|malignant craniocervical region neoplasm|head and neck neoplasm|head and neck tumours|head and neck cancer, NOS|cancer of craniocervical region|tumor of head and neck|head and neck cancer|head/neck neoplasm|malignant neoplasm of the head and neck|malignant neoplasm of head and neck	http://purl.obolibrary.org/obo/MONDO_0005627	A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma.	UMLS:C0278996|NCIT:C4013|DOID:11934
MONDO:0005622	obsolete vasculitis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005622		
MONDO:0005621	vascular brain injury	biolink:Disease	mondo	MESH:D020214|EFO:0006791		Vascular trauma, Brain|Vascular injury, Brain|Vascular Brain injury|Vascular Brain Injuries|Brain Vascular injury|Brain Vascular trauma|injury, Brain Vascular|Brain injury, Vascular|trauma, Brain Vascular|injury, Vascular Brain|injury, Vascular, Brain|trauma, cerebrovascular|Vascular Traumas, Brain	http://purl.obolibrary.org/obo/MONDO_0005621	Damage to the blood vessels of the brain	MESH:D020214
MONDO:0005624	atrophic thyroiditis	biolink:Disease	mondo	UMLS:C0238183|EFO:0006813|SCTID:83664006			http://purl.obolibrary.org/obo/MONDO_0005624	Atrophic thyroiditis is an organ-specific autoimmune disease characterized by thyroid autoantibodies, functional hypothyroidism, and absence of goiter.	SNOMEDCT:83664006|UMLS:C0238183
MONDO:0005623	autoimmune thyroid disease	biolink:Disease	mondo	MESH:D013967|Wikipedia:Autoimmune_thyroiditis|EFO:0006812|GARD:0006945		autoimmune thyroid gland inflammation|thyroiditides, lymphocytic|thyroiditis, lymphocytic|thyroiditis, lymphomatous|thyroiditides, lymphomatous|thyroiditides, autoimmune|lymphomatous thyroiditis|lymphomatous thyroiditides|autoimmune thyroiditis|lymphocytic thyroiditis|autoimmune thyroiditides|lymphocytic thyroiditides	http://purl.obolibrary.org/obo/MONDO_0005623	Inflammatory disease of the thyroid gland due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-cells and thyroid autoantibodies. The clinical signs can range from hypothyroidism to thyrotoxicosis depending on the type of autoimmune thyroiditis.	MESH:D013967
HGNC:9040	PLA2G7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9040		
MONDO:0005620	cerebral amyloid angiopathy	biolink:Disease	mondo	NCIT:C84625|ICD9:277.39|COHD:4045749|EFO:0006790|ICD10:I68.0|DOID:9246|ICD10:E85.4+|GARD:0010266|SCTID:230724001|Orphanet:85458|MESH:D016657|ICD10:I68.0*	ordo_disease	CAA, familial|dutch hereditary cerebral amyloid angiopathy|HCHWA|hereditary cerebral haemorrhage with amyloidosis - Dutch type|cerebral amyloid angiopathy, genetic|cerebral amyloid angiopathy, familial	http://purl.obolibrary.org/obo/MONDO_0005620	Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia.	DOID:9246|SNOMEDCT:230724001|NCIT:C84625|MESH:D016657|ORPHA:85458
MONDO:0017608	dystrophic epidermolysis bullosa	biolink:Disease	mondo	Orphanet:303|GARD:0002150|ICD10:Q81.2	ordo_group_of_disorders	Dermolytic epidermolysis bullosa|epidermolysis bullosa dystrophica|DEB|epidermolysis bullosa, dermolytic	http://purl.obolibrary.org/obo/MONDO_0017608	Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other.	ORPHA:303
RO:0004010	is genetic basis for condition	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0004010		
MONDO:0017609	renal tubular dysgenesis	biolink:Disease	mondo	Orphanet:3033|SCTID:702397002|ICD10:Q63.8|GARD:0000379	ordo_malformation_syndrome	primitive renal tubule syndrome|renotubular dysgenesis	http://purl.obolibrary.org/obo/MONDO_0017609	Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner.	UMLS:C0266313|SNOMEDCT:702397002|ORPHA:3033
RO:0004011	is causal gain of function germline mutation of in	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0004011	Relates a gene to condition, such that a mutation in this gene in a germ cell provides a new function of the corresponding product and that is sufficient to produce the condition and that can be passed on to offspring[modified from orphanet].	
MONDO:0017615	benign familial infantile epilepsy	biolink:Disease	mondo	DOID:0060169|OMIMPS:601764|ICD9:V17.2|SCTID:230410004|ICD10:G40.3|UMLS:CN203492|GARD:0000857|Orphanet:306	gard_rare|clingen|ordo_disease	BFIC|BFIS|BFIE|benign familial infantile convulsion|benign familial infantile convulsions|benign familial infantile seizures|seizures, benign familial infantile	http://purl.obolibrary.org/obo/MONDO_0017615	Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.	DOID:0060169|SNOMEDCT:230410004|UMLS:CN203492|ORPHA:306
MONDO:0017616	X-linked intellectual disability, Schutz type	biolink:Disease	mondo	Orphanet:3062|ICD10:Q87.8	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017616		ORPHA:3062
MONDO:0017617	acquired adult-onset immunodeficiency	biolink:Disease	mondo	ICD10:D84.8|Orphanet:306431|GARD:0011992	ordo_disease	adult-onset immunodeficiency with acquired Anti-interferon-gamma autoantibodies|adult onset immunodeficiency syndrome|adult-onset immunodeficiency due to anti-interferon-gamma autoantibody|adult-onset immunodeficiency with anti-interferon-gamma autoantibodies|acquired immunodeficiency of adults|anti-IFN-gamma autoantibody syndrome|adult acquired immunodeficiency	http://purl.obolibrary.org/obo/MONDO_0017617	A acquired immunodeficiency that occurs in an adult.	ORPHA:306431
MONDO:0017618	congenital sucrase-isomaltase deficiency with starch intolerance	biolink:Disease	mondo	ICD10:E74.3|Orphanet:306436	ordo_clinical_subtype	congenital sucrase-isomaltose malabsorption with starch intolerance|disaccharide intolerance with starch intolerance|congenital sucrose intolerance with starch intolerance|CSID with starch intolerance	http://purl.obolibrary.org/obo/MONDO_0017618		ORPHA:306436
MONDO:0017611	pituitary tumor	biolink:Disease	mondo	UMLS:C0032019|Orphanet:304055|SCTID:127024001|ICD9:239.7|NCIT:C3330	ordo_group_of_disorders	pituitary gland neoplasm|pituitary tumor|tumor of the pituitary gland|neoplasm of pituitary gland|pituitary gland tumor|tumor of the pituitary|tumor of pituitary|neoplasm of the pituitary gland|tumor of pituitary gland|neoplasm of the pituitary|pituitary neoplasm|neoplasm of pituitary	http://purl.obolibrary.org/obo/MONDO_0017611	A benign or malignant neoplasm affecting the pituitary gland. The vast majority are adenomas arising from the anterior lobe of the pituitary gland.	SNOMEDCT:127024001|UMLS:C0032019|NCIT:C3330|ORPHA:304055
MONDO:0017612	junctional epidermolysis bullosa	biolink:Disease	mondo	Orphanet:305|SCTID:79855003|UMLS:C0079301|NCIT:C90598|GARD:0002152|DOID:3209|MESH:D016109	gard_rare|ordo_group_of_disorders	EBJ|epidermolysis bullosa hereditaria letalis|epidermolysis bullosa, junctional|JEB|epidermolysis bullosa atrophicans|congenital junctional epidermolysis bullosa	http://purl.obolibrary.org/obo/MONDO_0017612	Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation.	DOID:3209|NCIT:C90598|MESH:D016109|SNOMEDCT:79855003|ORPHA:305|UMLS:C0079301
MONDO:0017613	intellectual disability-hypotonia-skin hyperpigmentation syndrome	biolink:Disease	mondo	GARD:0003441|Orphanet:3050	ordo_disease|gard_rare	Medrano Roldan syndrome|Medrano-Roldan syndrome	http://purl.obolibrary.org/obo/MONDO_0017613		ORPHA:3050
NCBITaxon:44281	Pneumocystidaceae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_44281		
MONDO:0017614	X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome	biolink:Disease	mondo	UMLS:C0796264|Orphanet:3055|GARD:0000345|MESH:C536715|ICD10:Q87.8	ordo_malformation_syndrome	X-linked intellectual disability - short stature – obesity|Sex-linked mental retardation, short stature, obesity and hypogonadism|Sex-linked intellectual disability, short stature, obesity and hypogonadism|Young-Hughes syndrome	http://purl.obolibrary.org/obo/MONDO_0017614	X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.	MESH:C536715|ORPHA:3055|UMLS:C0796264
NCBITaxon:8006	Salmoniformes	organism taxon	mondo	GC_ID:1		salmons and trouts	http://purl.obolibrary.org/obo/NCBITaxon_8006		
HGNC:9045	PLAG1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9045		
UBERON:0002268	olfactory organ	biolink:AnatomicalEntity	mondo			olfactory neuroepithelium|organum olfactorium|primary olfactory organ|organ olfactus|olfactory organ|main olfactory organ|olfactory sensory organ|olfactory sense organ	http://purl.obolibrary.org/obo/UBERON_0002268	An organ that houses olfactory neurons and is responsible for the sense of smell. Examples include the vertebrate nose and the Drosophila dorsal organ.	
HGNC:9046	PLAGL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9046		
MONDO:0017610	epidermolysis bullosa simplex	biolink:Disease	mondo	Orphanet:304|NCIT:C84692|ICD10:Q81.0|UMLS:C0079298|MESH:D016110|ICD9:757.39|GARD:0010752|SCTID:67144006|DOID:4644	ordo_group_of_disorders|gard_rare	epidermolysis bullosa intraepidermic|epidermolysis bullosa simplex|EBS|EEB	http://purl.obolibrary.org/obo/MONDO_0017610	Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma.	SNOMEDCT:67144006|MESH:D016110|NCIT:C84692|ORPHA:304|UMLS:C0079298|DOID:4644
MONDO:0005619	typhoid fever	biolink:Disease	mondo	COHD:192819|MESH:D014435|EFO:0006789|ICD10:A01.00|Orphanet:99745|DOID:13258|NCIT:C35089|UMLS:C0041466|ICD10:A01.0|SCTID:4834000|GARD:0009564|ICD9:002.0	ordo_disease	typhoid|typhoid fever|typhoidal salmonellosis	http://purl.obolibrary.org/obo/MONDO_0005619	A bacterial infectious disorder contracted by consumption of food or drink contaminated with Salmonella typhi. This disorder is common in developing countries and can be treated with antibiotics.	NCIT:C35089|MESH:D014435|SNOMEDCT:4834000|ORPHA:99745|UMLS:C0041466|DOID:13258
UBERON:0002265	olfactory tract	biolink:AnatomicalEntity	mondo			tractus olfactorius|olfactory stalk|tractus olfactorium|olfactory peduncle|pedunclulus olfactorius	http://purl.obolibrary.org/obo/UBERON_0002265	White matter tract that contains projections from the olfactory bulb to other parts of the brain	
MONDO:0005618	anxiety disorder	biolink:Disease	mondo	ICD9:300.09|ICD10:F41.9|EFO:0006788|DOID:2030|COHD:442077|MESH:D001008|NCIT:C2878|SCTID:197480006		anxiety state|anxiety disorder|anxiety	http://purl.obolibrary.org/obo/MONDO_0005618	A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety.	NCIT:C2878|SNOMEDCT:197480006|DOID:2030|MESH:D001008
UBERON:0002264	olfactory bulb	biolink:AnatomicalEntity	mondo			olfactory lobe|bulbus olfactorius (Morgagni)|bulbus olfactorius|olfactory lobe (Barr & Kiernan)|bulbus olfactorius	http://purl.obolibrary.org/obo/UBERON_0002264	A bulbous anterior projection of the olfactory lobe that is the place of termination of the olfactory nerves and is especially well developed in lower vertebrates (as fishes)[BTO].	
MONDO:0005637	obsolete adult-onset Still disease	biolink:Disease	mondo			obsolete adult-onset Still's disease	http://purl.obolibrary.org/obo/MONDO_0005637		
MONDO:0005636	adenosarcoma	biolink:Disease	mondo	UMLS:C0001442|ICDO:8933/3|NCIT:C9474|EFO:0007134|MESH:D018195|DOID:1974		adenosarcoma (morphologic abnormality)|Müllerian adenosarcoma|mullerian adenosarcoma|adenosarcoma|Mullerian adenosarcoma	http://purl.obolibrary.org/obo/MONDO_0005636	A low grade malignant neoplasm characterized by the presence of a benign epithelial component (tubular and cleft-like glands) and a low grade sarcomatous component that contains varying amounts of fibrous and smooth muscle tissues. In a minority of cases, the sarcomatous component contains heterologous elements including striated muscle, cartilage, and fat. It occurs in the uterine corpus, ovary, fallopian tube, cervix, and vagina. It may recur and in a minority of cases may metastasize to distant anatomic sites.	MESH:D018195|DOID:1974|UMLS:C0001442|NCIT:C9474
MONDO:0005639	AIDS related complex	biolink:Disease	mondo	EFO:0007137|UMLS:C0001857|MESH:D000386			http://purl.obolibrary.org/obo/MONDO_0005639	A prodromal phase of infection with the human immunodeficiency virus (HIV). Laboratory criteria separating aids-related complex (ARC) from aids include elevated or hyperactive B-cell humoral immune responses, compared to depressed or normal antibody reactivity in aids; follicular or mixed hyperplasia in arc lymph nodes, leading to lymphocyte degeneration and depletion more typical of aids; evolving succession of histopathological lesions such as localization of Kaposi's sarcoma, signaling the transition to the full-blown aids.	UMLS:C0001857|MESH:D000386
MONDO:0005638	agnosia	biolink:Disease	mondo	NCIT:C84542|EFO:0007136|SCTID:68345001|ICD10:R48.1|ICD10:R48.2|GARD:0000008|MESH:D000377|DOID:4090	gard_rare	primary visual agnosia|dyspraxia (finding)|Monomodal visual amnesia|dyspraxia syndrome|agnosia|visual amnesia|dyspraxia	http://purl.obolibrary.org/obo/MONDO_0005638	A rare disorder characterized by the lack of ability to recognize individuals, objects, shapes, sounds, or smells. There is no loss of memory. It is caused by neurological damage in the brain, specifically in the occipital or parietal lobes.	SNOMEDCT:68345001|NCIT:C84542|MESH:D000377|DOID:4090
MONDO:0005633	obsolete acute disseminated encephalomyelitis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005633		
HGNC:9052	PLAU	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9052		
MONDO:0005632	acute chest syndrome	biolink:Disease	mondo	MESH:D056586|ICD9:517.3|COHD:254062|DOID:1584|UMLS:C0742343|SCTID:372146004|NCIT:C138179|EFO:0007129		ACS|acute chest syndrome in sickle cell disease	http://purl.obolibrary.org/obo/MONDO_0005632	A vaso-occlusive crisis of the pulmonary vasculature occurring in patients with sickle cell disease. It is characterized by the presence of a new radiodensity on a chest radiograph accompanied by fever, cough, sputum production, dyspnea, or hypoxia.	NCIT:C138179|SNOMEDCT:372146004|DOID:1584|UMLS:C0742343|MESH:D056586
CHEBI:47811	penamcarboxylate	biolink:ChemicalSubstance	mondo			penamcarboxylates	http://purl.obolibrary.org/obo/CHEBI_47811		
MONDO:0005635	adenomyoma	biolink:Disease	mondo	MESH:D018194|DOID:2609|EFO:0007133|ICDO:8932/0|UMLS:C0206622|NCIT:C3726		adenomyoma, benign|adenomyoma (morphologic abnormality)|adenomyoma	http://purl.obolibrary.org/obo/MONDO_0005635	A benign neoplasm characterized by the presence of a glandular and a mesenchymal (fibromyomatous) component. It occurs in the uterine corpus and the cervix. A variant of adenomyoma associated with glandular architectural complexity is called atypical polypoid adenomyoma. Simple polypectomy is usually curative. Atypical polypoid adenomyoma may recur following polypectomy.	UMLS:C0206622|MESH:D018194|DOID:2609|NCIT:C3726
MONDO:0005634	acute hemorrhagic conjunctivitis	biolink:Disease	mondo	MESH:D003232|NCIT:C34505|ICD9:077.4|DOID:11227|SCTID:398264003|EFO:0007131|UMLS:C0009765		epidemic hemorrhagic conjunctivitis|Apollo disease|viral conjunctivitis	http://purl.obolibrary.org/obo/MONDO_0005634	Acute conjunctivitis that is characterized by bleeding into the conjunctiva.	DOID:11227|SNOMEDCT:398264003|MESH:D003232|NCIT:C34505|UMLS:C0009765
HGNC:9051	PLAT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9051		
MONDO:0005631	actinomycosis	biolink:Disease	mondo	ICD9:039|ICD9:039.9|ICD10:A42.9|MESH:D000196|ICD10:A42.8|ICD10:A42.7|GARD:0005728|Orphanet:457095|COHD:436020|ICD10:A42.2|UMLS:C0001261|ICD10:A42|DOID:8478|ICD10:A42.1|NCIT:C34350|EFO:0007128|ICD10:A42.0	gard_rare|ordo_disease	Keratoactinomycosis|boil|infections, Actinomyces|Actinomyces israeli|actinomycotic madura foot|actinomycotic mycetoma of foot|actinomycotic mycetema|Actinomyces infection|canaliculitis|actinomycotic infection|actinomycetoma|anaerobic Actinomyces infection|Madura foot due to Actinomadura|Actinomycetes	http://purl.obolibrary.org/obo/MONDO_0005631	Actinomycosis is a chronic bacterial infection that commonly affects the face and neck. It is usually caused by an anaerobic bacteria called Actinomyces israelii. Actinomyces are normal inhabitants of the mouth, gastrointestinal tract, and female genital tract, and do not cause an infection unless there is a break in the skin or mucosa. The infection usually occurs in the face and neck, but can sometimes occur in the chest, abdomen, pelvis, or other areas of the body. The infection is not contagious.	ORPHA:457095|DOID:8478|UMLS:C0001261|MESH:D000196|NCIT:C34350
MONDO:0005630	actinobacillosis	biolink:Disease	mondo	UMLS:C0001247|SCTID:16140007|MESH:D000187|DOID:4974|EFO:0007127		actinobacillosis, NOS	http://purl.obolibrary.org/obo/MONDO_0005630	A disease characterized by suppurative and granulomatous lesions in the respiratory tract, upper alimentary tract, skin, kidneys, joints, and other tissues. Actinobacillus lignieresii infects cattle and sheep while A. equuli infects horses and pigs.	SNOMEDCT:16140007|UMLS:C0001247|MESH:D000187|DOID:4974
RO:0004001	has material basis in gain of function germline mutation in	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0004001		
UBERON:0016896	periosteum of long bone	biolink:AnatomicalEntity	mondo			long bone periosteum	http://purl.obolibrary.org/obo/UBERON_0016896	A periosteum that is part of a long bone.	
RO:0004000	condition has genetic basis in	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/RO_0004000		
MONDO:0017604	marginal zone lymphoma	biolink:Disease	mondo	UMLS:C1367654|SCTID:447100004|ONCOTREE:MZL|DOID:0050748|NCIT:C4341|Orphanet:300912|GARD:0013237|ICDO:9699/3|EFO:1000630	ordo_group_of_disorders	lymphoma of marginal zone B cell|marginal zone B-cell lymphoma|MZL|MZBCL|marginal zone lymphoma|marginal zone B cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0017604	A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood.	SNOMEDCT:447100004|DOID:0050748|UMLS:C1367654|NCIT:C4341|ORPHA:300912
MONDO:0017605	obsolete ependymal tumor	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0017605		
MONDO:0017606	facial nerve palsy due to herpes zoster infection	biolink:Disease	mondo	GARD:0007525|Orphanet:3020|ICD10:G53.0*|ICD10:B02.2+	ordo_disease	Ramsay Hunt syndrome|Hunt syndrome (formerly)|Ramsay Hunt syndrome type 2 (formerly)|Hunt's syndrome (formerly)|facial nerve paralysis due to VZV|facial nerve palsy due to VZV	http://purl.obolibrary.org/obo/MONDO_0017606		ORPHA:3020
MONDO:0017607	caudal regression sequence	biolink:Disease	mondo	GARD:0006007|MedDRA:10059387|Orphanet:3027|UMLS:C1838568|MedDRA:10054842|NCIT:C124505|UMLS:C1867774|MedDRA:10068896|ICD10:Q76.0	ordo_malformation_syndrome	sacral agenesis syndrome|caudal dysplasia|sacral regression syndrome	http://purl.obolibrary.org/obo/MONDO_0017607	Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine.	UMLS:C0344490|MEDDRA:10059387|UMLS:C1838568|UMLS:C0300948|UMLS:C1867774|NCIT:C124505|MEDDRA:10068896|ORPHA:3027|MEDDRA:10054842
MONDO:0017600	hairy cell leukemia variant	biolink:Disease	mondo	DOID:713|ICD10:C91.4|UMLS:C0349633|MedDRA:10019054|ICDO:9591/3|NCIT:C7401|SCTID:277568007|Orphanet:300878	ordo_disease	hairy cell leukaemia variant|prolymphocytic variant of hairy cell leukemia|leukemic reticuloendotheliosis variant|HCL-v|prolymphocytic variant of HCL|HCL-V|hairy cell leukemia variant	http://purl.obolibrary.org/obo/MONDO_0017600	Hairy Cell Leukemia variant (HCL-V) is defined as a rare and indolent form of small, mature, B-cell leukemia characterized by splenomegaly, an elevated white blood cell (WBC) count and hyper-cellular bone marrow. HCL-V is more aggressive and resistant to therapy than classical HCL (HCL-C).	DOID:713|NCIT:C7401|UMLS:C0349633|ORPHA:300878|MEDDRA:10019054|SNOMEDCT:277568007
MONDO:0017601	diffuse large B-cell lymphoma with chronic inflammation	biolink:Disease	mondo	ICD10:C83.3|Orphanet:300888	ordo_disease	DLBCL with chronic inflammation	http://purl.obolibrary.org/obo/MONDO_0017601	Diffuse large B-cell lymphoma with chronic inflammation is an Epstein-Barr virus-associated malignant lymphoproliferative disorder, developing in a context of long-standing or slow-growing, chronically inflamed lesions, such as chronic pyothorax, metallic implants in bones and joints, chronic osteomyelitis, chronic venous ulcer, or, rarely granulomatous inflammation. The tumor is usually primarily localized, with no involvement of other organs.	ORPHA:300888
CHEBI:35842	antirheumatic drug	biolink:ChemicalSubstance	mondo			anti-rheumatic drugs|antirheumatic agent|antirheumatic drugs	http://purl.obolibrary.org/obo/CHEBI_35842	A drug used to treat rheumatoid arthritis.	
MONDO:0017602	ALK-positive anaplastic large cell lymphoma	biolink:Disease	mondo	Orphanet:300895|ICDO:9714/3|NCIT:C37193|ICD10:C84.6|UMLS:C1332079	ordo_histopathological_subtype	anaplastic large cell lymphoma, ALK-positive|ALK-positive anaplastic large cell lymphoma|ALK+ ALCL|ALCL, ALK+|ALKoma|ALK+ anaplastic large cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0017602	ALK-positive anaplastic large cell lymphoma (ALK+ ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the expression of a protein called anaplastic lymphoma kinase (ALK).	ORPHA:300895|NCIT:C37193|UMLS:C1332079
MONDO:0017603	ALK-negative anaplastic large cell lymphoma	biolink:Disease	mondo	ICDO:9702/3|EFO:1000083|NCIT:C37194|ICD10:C84.7|Orphanet:300903|UMLS:C1332078	ordo_histopathological_subtype	ALK-negative anaplastic large cell lymphoma|ALK- ALCL|ALK- anaplastic large cell lymphoma|ALCL, ALK-|anaplastic large cell lymphoma, ALK-negative	http://purl.obolibrary.org/obo/MONDO_0017603	ALK-negative anaplastic large cell lymphoma (ALK- ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the lack of expression of a protein called anaplastic lymphoma kinase (ALK).	ORPHA:300903|NCIT:C37194|UMLS:C1332078
UBERON:0002257	ventral horn of spinal cord	biolink:AnatomicalEntity	mondo			ventral region of spinal cord|spinal cord anterior horn|ventral horn spinal cord|columna grisea anterior medullae spinalis|ventral grey horn|anterior horn|cornu anterius medullae spinalis|spinal cord ventral horn|anterior grey column of spinal cord|ventral grey column of spinal cord|ventral horn of the spinal cord|ventral spinal cord|anterior column|anterior horn (spinal cord)|anterior column of the spinal cord|ventral horns spinal cord|ventral gray matter of spinal cord|anterior gray horn of spinal cord|anterior gray column of spinal cord|ventral gray column of spinal cord	http://purl.obolibrary.org/obo/UBERON_0002257	The ventral grey column of the spinal cord[MP]. The neurons of the ventral region of the mature spinal cord participate in motor output[GO].	
NCBITaxon:8016	Oncorhynchus	organism taxon	mondo	GC_ID:1		Parasalmo	http://purl.obolibrary.org/obo/NCBITaxon_8016		
NCBITaxon:8015	Salmonidae	organism taxon	mondo	GC_ID:1|PMID:15062801		salmonids	http://purl.obolibrary.org/obo/NCBITaxon_8015		
MONDO:0005629	Acanthamoeba keratitis	biolink:Disease	mondo	GARD:0009285|SCTID:231896005|EFO:0007126|MedDRA:10069408|ICD10:B60.1+|MESH:D015823|UMLS:C0000880|ICD9:370.8|NCIT:C50450|Orphanet:67043|ICD10:H19.2*	ordo_disease|gard_rare	keratitis, Acanthamoeba|Acanthamoeba caused keratitis	http://purl.obolibrary.org/obo/MONDO_0005629	Keratitis due to infection by acanthamoeba; it is usually associated with soft contact lens wear, particularly overnight wear.	NCIT:C50450|ORPHA:67043|UMLS:C0000880|MEDDRA:10069408|SNOMEDCT:231896005|MESH:D015823
HGNC:9059	PLCB4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/9059		
HGNC:877	ALDH7A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/877		
UBERON:0004938	submucosa of biliary tree	biolink:AnatomicalEntity	mondo			submucosa of biliary tract|biliary tree submucosa|biliary tract submucosa	http://purl.obolibrary.org/obo/UBERON_0004938	A submucosa that is part of a biliary tree [Automatically generated definition].	
UBERON:0004939	submucosa of common bile duct	biolink:AnatomicalEntity	mondo			common bile duct submucosa|common bile ductal submucosa|submucosa of ductus choledochus (biliaris)|ductus choledochus (biliaris) submucosa	http://purl.obolibrary.org/obo/UBERON_0004939	A submucosa that is part of a common bile duct [Automatically generated definition].	
UBERON:0004936	submucosa of pyloric antrum	biolink:AnatomicalEntity	mondo			stomach pyloric antrum submucosa|antrum of stomach submucosa|submucosa of stomach pyloric antrum|pyloric antrum submucosa|submucosa of antrum of stomach	http://purl.obolibrary.org/obo/UBERON_0004936	A submucosa that is part of a pyloric antrum [Automatically generated definition].	
UBERON:0004937	submucosa of pylorus	biolink:AnatomicalEntity	mondo			pyloric part of stomach submucosa|submucosa of stomach pyloric region|pylorus submucosa|pyloric submucosa|submucosa of pyloric part of stomach|stomach pyloric region submucosa	http://purl.obolibrary.org/obo/UBERON_0004937	A submucosa that is part of a pylorus [Automatically generated definition].	
UBERON:0004934	submucosa of body of stomach	biolink:AnatomicalEntity	mondo			stomach body submucosa|submucosa of gastric body|corpus gastricum (ventriculare) submucosa|submucosa of stomach body|gastric body submucosa|submucosa of corpus gastricum (ventriculare)|body of stomach submucosa	http://purl.obolibrary.org/obo/UBERON_0004934	A submucosa that is part of a body of stomach [Automatically generated definition].	
UBERON:0004935	submucosa of cardia of stomach	biolink:AnatomicalEntity	mondo			submucosa of stomach cardiac region|gastric cardia submucosa|cardia of stomach submucosa|pars cardiaca (gaster) submucosa|stomach cardiac region submucosa|submucosa of cardial part of stomach|submucosa of gastric cardia|cardial part of stomach submucosa|submucosa of pars cardiaca (gaster)	http://purl.obolibrary.org/obo/UBERON_0004935	A submucosa that is part of a cardia of stomach [Automatically generated definition].	
HGNC:870	ATP7B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/870		
GO:0007113	endomitotic cell cycle	biolink:OntologyClass	mondo			endomitosis	http://purl.obolibrary.org/obo/GO_0007113	A mitotic cell cycle in which chromosomes are replicated and sister chromatids separate, but spindle formation, nuclear membrane breakdown and nuclear division do not occur, resulting in an increased number of chromosomes in the cell.	
GO:0010769	regulation of cell morphogenesis involved in differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010769	Any process that modulates the frequency, rate or extent of cell morphogenesis contributing to cell differentiation. Cell morphogenesis involved in differentiation is the change in form (cell shape and size) that occurs when relatively unspecialized cells acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history.	
UBERON:0004943	submucosa of urinary bladder	biolink:AnatomicalEntity	mondo			tela submucosa vesicae|submucous layer of urinary bladder|submucosa of bladder|bladder submucosa|tela submucosa vesicae urinariae|tela submucosa (vesica urinaria)|urinary bladder submucosa	http://purl.obolibrary.org/obo/UBERON_0004943	The submucous layer of the wall of the urinary bladder.	
UBERON:0004944	submucosa of trigone of urinary bladder	biolink:AnatomicalEntity	mondo			trigone of urinary bladder submucosa|submucosa of urinary bladder trigone|submucosa of Lieutaud ' s trigone|deep trigone submucosa|submucosa of vesical trigone|urinary bladder trigone submucosa|vesical trigone submucosa|trigone of bladder submucosa|submucosa of deep trigone|Lieutaud ' s trigone submucosa|submucosa of trigone of bladder	http://purl.obolibrary.org/obo/UBERON_0004944	A submucosa that is part of a trigone of urinary bladder [Automatically generated definition].	
UBERON:0004941	submucosa of right hepatic duct	biolink:AnatomicalEntity	mondo			right hepatic duct submucosa|right hepatic ductal submucosa	http://purl.obolibrary.org/obo/UBERON_0004941	A submucosa that is part of a right hepatic duct [Automatically generated definition].	
UBERON:0004942	submucosa of left hepatic duct	biolink:AnatomicalEntity	mondo			left hepatic ductal submucosa|left hepatic duct submucosa	http://purl.obolibrary.org/obo/UBERON_0004942	A submucosa that is part of a left hepatic duct [Automatically generated definition].	
UBERON:0004940	submucosa of common hepatic duct	biolink:AnatomicalEntity	mondo			common hepatic duct submucosa|common hepatic ductal submucosa|hepatic duct submucosa|submucosa of hepatic duct	http://purl.obolibrary.org/obo/UBERON_0004940	A submucosa that is part of a common hepatic duct [Automatically generated definition].	
HGNC:869	ATP7A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/869		
HGNC:868	ATP6AP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/868		
UBERON:0004929	submucosa of ascending colon	biolink:AnatomicalEntity	mondo			ascending colon submucosa	http://purl.obolibrary.org/obo/UBERON_0004929	A submucosa that is part of an ascending colon [Automatically generated definition].	
HGNC:888	KIF1A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/888		
UBERON:0004927	submucosa of cecum	biolink:AnatomicalEntity	mondo			submucosa of caecum|cecum submucosa|submucosa of intestinum crassum caecum|intestinum crassum caecum submucosa|caecum submucosa	http://purl.obolibrary.org/obo/UBERON_0004927	A submucosa that is part of a cecum [Automatically generated definition].	
UBERON:0004928	submucosa of appendix	biolink:AnatomicalEntity	mondo			submucosa of vermiform appendix|appendiceal submucosa|appendix submucosa|vermix submucosa|vermiform appendix submucosa|submucosa of caecal appendix|submucosa of vermix|caecal appendix submucosa	http://purl.obolibrary.org/obo/UBERON_0004928	A submucosa that is part of an appendix [Automatically generated definition].	
HGNC:886	ATRX	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/886		
UBERON:0004925	submucosa of laryngopharynx	biolink:AnatomicalEntity	mondo			submucosa of hypopharynx|hypopharynx submucosa|submucosa of laryngeal pharynx|laryngeal pharynx submucosa|tela submucosa (pars laryngea pharyngis)|laryngopharynx submucosa	http://purl.obolibrary.org/obo/UBERON_0004925	A submucosa that is part of a hypopharynx [Automatically generated definition].	
UBERON:0004926	submucosa of cystic duct	biolink:AnatomicalEntity	mondo			cystic ductal submucosa|cystic duct submucosa	http://purl.obolibrary.org/obo/UBERON_0004926	A submucosa that is part of a cystic duct [Automatically generated definition].	
UBERON:0004923	organ component layer	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004923	A part of a wall of an organ that forms a layer.	
UBERON:0004924	submucosa of pharynx	biolink:AnatomicalEntity	mondo			submucous coat of pharynx|tela submucosa pharyngea|pharyngobasilar fascia|pharynx submucosa|tela submucosa pharyngis|pharyngeal submucosa|submucous layer of pharynx	http://purl.obolibrary.org/obo/UBERON_0004924	The tissue underlying the tunica mucosa of the pharynx.	
HGNC:882	ATR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/882		
GO:0009790	embryo development	biolink:OntologyClass	mondo			embryogenesis|embryogenesis and morphogenesis|embryonal development	http://purl.obolibrary.org/obo/GO_0009790	The process whose specific outcome is the progression of an embryo from its formation until the end of its embryonic life stage. The end of the embryonic stage is organism-specific. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant.	
GO:0010770	positive regulation of cell morphogenesis involved in differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010770	Any process that increases the frequency, rate or extent of cell morphogenesis contributing to cell differentiation. Cell morphogenesis involved in differentiation is the change in form (cell shape and size) that occurs when relatively unspecialized cells acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history.	
GO:0010771	negative regulation of cell morphogenesis involved in differentiation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010771	Any process that decreases the frequency, rate or extent of cell morphogenesis contributing to cell differentiation. Cell morphogenesis involved in differentiation is the change in form (cell shape and size) that occurs when relatively unspecialized cells acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history.	
UBERON:0004932	submucosa of sigmoid colon	biolink:AnatomicalEntity	mondo			sigmoid colon submucosa	http://purl.obolibrary.org/obo/UBERON_0004932	A submucosa that is part of a sigmoid colon [Automatically generated definition].	
UBERON:0004933	submucosa of fundus of stomach	biolink:AnatomicalEntity	mondo			fundus of stomach submucosa|fundus gastricus (ventricularis) submucosa|submucosa of stomach fundus|submucosa of fundus gastricus (ventricularis)|stomach fundus submucosa	http://purl.obolibrary.org/obo/UBERON_0004933	A submucosa that is part of a fundus of stomach [Automatically generated definition].	
UBERON:0004930	submucosa of transverse colon	biolink:AnatomicalEntity	mondo			transverse colon submucosa	http://purl.obolibrary.org/obo/UBERON_0004930	A submucosa that is part of a transverse colon [Automatically generated definition].	
UBERON:0004931	submucosa of descending colon	biolink:AnatomicalEntity	mondo			descending colon submucosa	http://purl.obolibrary.org/obo/UBERON_0004931	A submucosa that is part of a descending colon [Automatically generated definition].	
UBERON:0004919	external urethral sphincter	biolink:AnatomicalEntity	mondo			musculus sphincter urethrae membranaceae|external urethral sphincter muscle|urethralis|external sphincter muscle of urethra|m. urethralis|external sphincter of urethra|urethralis muscle|annulus urethralis	http://purl.obolibrary.org/obo/UBERON_0004919	.	
UBERON:0004916	anal sphincter	biolink:AnatomicalEntity	mondo			sphincter analia|anal region sphincter	http://purl.obolibrary.org/obo/UBERON_0004916	A sphincter muscle that is part of a anal region.	
HGNC:854	ATP6V1B2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/854		
UBERON:0004917	urethral sphincter	biolink:AnatomicalEntity	mondo			urethral sphincter muscle|sphincter muscle of urethra|sphincter urethrae|sphincter of urethra	http://purl.obolibrary.org/obo/UBERON_0004917	A sphincter muscle surrounding the urethra.	
HGNC:853	ATP6V1B1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/853		
UBERON:0004914	duodenal papilla	biolink:AnatomicalEntity	mondo			papilla duodenalis|papilla duodeni|papilla of duodenum	http://purl.obolibrary.org/obo/UBERON_0004914	One of the two small elevations on the mucosa of the duodenum, the major at the entrance of the conjoined pancreatic and common bile ducts and the minor at the entrance of the accessory pancreatic duct.	
UBERON:0004915	sphincter of hepatopancreatic ampulla	biolink:AnatomicalEntity	mondo			sphincter of Oddi|musculus sphincter ampullae hepatopancreatica|musculus sphincter ampullae|hepatopancreatic ampullary sphincter|sphincter of ampulla of vater|Oddi's sphincter	http://purl.obolibrary.org/obo/UBERON_0004915	muscular valve that controls the flow of digestive juices (bile and pancreatic juice) through the ampulla of Vater into the second part of the duodenum. Relaxed by the hormone Cholecystokinin (CCK) via vasoactive intestinal polypeptide (VIP).[WP].	
UBERON:0004912	biliary bud	biolink:AnatomicalEntity	mondo			hepatic diverticulum	http://purl.obolibrary.org/obo/UBERON_0004912		
UBERON:0004913	hepatopancreatic ampulla	biolink:AnatomicalEntity	mondo			biliaropancreatic ampulla|ampulla of Vater|ampulla hepatopancreatica|papilla Vateri|ampulla of bile duct|papilla duodeni major|Vater's ampulla|ampulla biliaropancreatica|ampulla Vaterii	http://purl.obolibrary.org/obo/UBERON_0004913	A dilation of the duodenal papilla that is the opening of the juncture of the common bile duct and the main pancreatic duct.	
GO:0071708	immunoglobulin light chain V-J recombination	biolink:OntologyClass	mondo			immunoglobulin V(D)J recombination|immunoglobulin V(D)J joining|immunoglobulin V-J joining	http://purl.obolibrary.org/obo/GO_0071708	The process in which immunoglobulin light chain V and J gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS).	
GO:0071707	immunoglobulin heavy chain V-D-J recombination	biolink:OntologyClass	mondo			immunoglobulin V(D)J recombination|immunoglobulin V-D-J joining|immunoglobulin V(D)J joining	http://purl.obolibrary.org/obo/GO_0071707	The process in which immunoglobulin heavy chain V, D, and J gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS).	
GO:0071705	nitrogen compound transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0071705	The directed movement of nitrogen-containing compounds into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
GO:0071704	organic substance metabolic process	biolink:OntologyClass	mondo			organic molecular entity metabolism|organic substance metabolism|organic molecular entity metabolic process	http://purl.obolibrary.org/obo/GO_0071704	The chemical reactions and pathways involving an organic substance, any molecular entity containing carbon.	
GO:0009755	hormone-mediated signaling pathway	biolink:OntologyClass	mondo			hormone mediated signalling	http://purl.obolibrary.org/obo/GO_0009755	A series of molecular signals mediated by the detection of a hormone.	
GO:0071702	organic substance transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0071702	The directed movement of organic substances into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter or pore. An organic substance is a molecular entity that contains carbon.	
UBERON:0004921	subdivision of digestive tract	biolink:AnatomicalEntity	mondo			alimentary system subdivision|subdivision of alimentary system|intestinal tract|segment of intestinal tract	http://purl.obolibrary.org/obo/UBERON_0004921	A proximal-distal subdivision of the digestive tract.	
UBERON:0004907	lower digestive tract	biolink:AnatomicalEntity	mondo			lower gastrointestinal tract|gut|lower GI tract	http://purl.obolibrary.org/obo/UBERON_0004907	The region of the digestive tract extending from the beginning of the intestines to the anus[GO - gut definition].	
UBERON:0004908	upper digestive tract	biolink:AnatomicalEntity	mondo			upper GI tract|upper gastrointestinal tract	http://purl.obolibrary.org/obo/UBERON_0004908	The region of the digestive tract extending from the mouth cavity through pharynx esophagus stomach and duodenum.	
HGNC:866	ATP6V0A4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/866		
UBERON:0004905	articulation	biolink:AnatomicalEntity	mondo			joint	http://purl.obolibrary.org/obo/UBERON_0004905	Anatomical cluster that connects two or more adjacent skeletal elements or hardened body parts.	
UBERON:0004906	ectodermal part of digestive tract	biolink:AnatomicalEntity	mondo			gut ectoderm|ectodermal gut	http://purl.obolibrary.org/obo/UBERON_0004906	A portion of the gut that is derived from ectoderm.	
UBERON:0004904	neuron projection bundle connecting eye with brain	biolink:AnatomicalEntity	mondo			optic nerve (generic)|optic nerve	http://purl.obolibrary.org/obo/UBERON_0004904	A neuron projection bundle that connects the retina or its analog in the eye with the brain. This includes the vertebrate optic nerve (not truly a nerve) as well as analogous structures such as the Bolwig nerve in Drosophila	
UBERON:0004901	right lung lobar bronchus mesenchyme	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004901	The right lung lobar bronchus mesenchyme is a type of tissue made up of loosely-packed mesenchymal cells in the right lung lobar bronchus	
UBERON:0004902	urogenital sinus epithelium	biolink:AnatomicalEntity	mondo			epithelium of urogenital sinus|UGE	http://purl.obolibrary.org/obo/UBERON_0004902	The fetal urogenital sinus (from which the prostate derives) is a simple cylinder of stratified basal epithelium, surrounded by mesenchyme and positioned between the embryonic bladder and pelvic urethra	
UBERON:0004909	epithelium of gonad	biolink:AnatomicalEntity	mondo			gonadal epithelium|gonad epithelium|gonadal sheath	http://purl.obolibrary.org/obo/UBERON_0004909	An epithelium surrounding a gonad.	
UBERON:0004910	epithelium of male gonad	biolink:AnatomicalEntity	mondo			testis sheath|testis epithelium	http://purl.obolibrary.org/obo/UBERON_0004910	An epithelium surrounding a testis.	
UBERON:0004911	epithelium of female gonad	biolink:AnatomicalEntity	mondo			ovarian sheath|ovarian epithelium|ovary epithelium	http://purl.obolibrary.org/obo/UBERON_0004911	An epithelium surrounding an ovary.	
UBERON:0002316	white matter	biolink:AnatomicalEntity	mondo			substantia alba|white matter of neuraxis|white mater|CNS tracts and commissures|CNS tract/commissure|CNS white matter|neuronal white matter|white substance	http://purl.obolibrary.org/obo/UBERON_0002316	Neural tissue consisting of myelinated axons connecting grey matter areas of the central nervous system.	
UBERON:0002318	white matter of spinal cord	biolink:AnatomicalEntity	mondo			spinal cord white matter|substantia alba medullae spinalis|spinal cord white matter of neuraxis|white matter of neuraxis of spinal cord|white substance of spinal cord|spinal cord white substance	http://purl.obolibrary.org/obo/UBERON_0002318	The regions of the spinal cord that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites.	
GO:0010721	negative regulation of cell development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010721	Any process that decreases the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate.	
UBERON:0004980	mucosa of ureter	biolink:AnatomicalEntity	mondo			tunica mucosa (ureter)|ureter mucosa of organ|ureteric mucosa|ureteral mucosa|mucosal layer of ureter|tunica mucosa ureteris|ureter mucous membrane|ureter mucosa|mucosa of organ of ureter|ureter organ mucosa|organ mucosa of ureter|mucous membrane of ureter	http://purl.obolibrary.org/obo/UBERON_0004980	A mucosa that is part of a ureter [Automatically generated definition].	
GO:0044108	cellular alcohol biosynthetic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0044108	The chemical reactions and pathways resulting in the formation of alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom, carried out at the level of an individual cell.	
GO:0010720	positive regulation of cell development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010720	Any process that increases the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate.	
GO:0044106	cellular amine metabolic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0044106	The chemical reactions and pathways involving any organic compound that is weakly basic in character and contains an amino or a substituted amino group, as carried out by individual cells. Amines are called primary, secondary, or tertiary according to whether one, two, or three carbon atoms are attached to the nitrogen atom.	
GO:0044107	cellular alcohol metabolic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0044107	The chemical reactions and pathways involving alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom, as carried out by individual cells.	
UBERON:0002324	muscle of back	biolink:AnatomicalEntity	mondo			muscle organ of back|back muscle organ|back muscle	http://purl.obolibrary.org/obo/UBERON_0002324	Any muscle organ that is part of a back [Automatically generated definition].	
UBERON:0004987	mucosa of laryngopharynx	biolink:AnatomicalEntity	mondo			laryngopharynx mucosa|laryngopharynx organ mucosa|laryngopharynx mucous membrane|organ mucosa of hypopharynx|hypopharynx mucosa of organ|mucous membrane of hypopharynx|mucosa of organ of laryngopharynx|mucosa of hypopharynx|laryngeal pharynx mucosa|laryngeal pharynx organ mucosa|laryngeal pharynx mucosa of organ|mucous membrane of laryngeal pharynx|mucosa of organ of hypopharynx|hypopharynx mucous membrane|organ mucosa of laryngeal pharynx|mucous membrane of laryngopharynx|organ mucosa of laryngopharynx|mucosa of laryngeal pharynx|hypopharynx mucosa|hypopharynx organ mucosa|mucosa of organ of laryngeal pharynx|laryngeal pharynx mucous membrane|laryngopharynx mucosa of organ	http://purl.obolibrary.org/obo/UBERON_0004987	A mucosa that is part of a hypopharynx [Automatically generated definition].	
UBERON:0002323	coelemic cavity lumen	biolink:AnatomicalEntity	mondo			space of body compartment|celom|ventral body cavity|coelome|main body cavity|hemocoel|coelom|coelomic cavity|body cavity|coelomic cavity lumen	http://purl.obolibrary.org/obo/UBERON_0002323	The cavity within the body of all animals higher than the coelenterates and certain primitive worms, formed by the splitting of the embryonic mesoderm into two layers. In mammals it forms the peritoneal, pleural, and pericardial cavities.	
UBERON:0004988	mucosa of cystic duct	biolink:AnatomicalEntity	mondo			cystic duct mucous membrane|mucosa of organ of cystic duct|cystic duct mucosa|cystic duct organ mucosa|mucous membrane of cystic duct|organ mucosa of cystic duct|cystic duct mucosa of organ|cystic ductal mucosa	http://purl.obolibrary.org/obo/UBERON_0004988	A mucosa that is part of a cystic duct [Automatically generated definition].	
UBERON:0004985	mucosa of ejaculatory duct	biolink:AnatomicalEntity	mondo			ejaculatory duct organ mucosa|ejaculatory duct mucosa of organ|ejaculatory duct mucous membrane|mucosa of organ of ejaculatory duct|ejaculatory ductal mucosa|organ mucosa of ejaculatory duct|mucous membrane of ejaculatory duct|ejaculatory duct mucosa	http://purl.obolibrary.org/obo/UBERON_0004985	A mucosa that is part of a ejaculatory duct [Automatically generated definition].	
UBERON:0002326	lamina propria of urethra	biolink:AnatomicalEntity	mondo			urethral lamina propria|lamina propria mucosae of urethra|urethra lamina propria mucosae|urethra lamina propria mucosa|urethra lamina propria|lamina propria mucosa of urethra	http://purl.obolibrary.org/obo/UBERON_0002326	A lamina propria that is part of a urethra [Automatically generated definition].	
UBERON:0004986	mucosa of deferent duct	biolink:AnatomicalEntity	mondo			mucosa of organ of vas deferen|vas deferen mucous membrane|sperm duct mucosa|sperm duct organ mucosa|vas deferens mucosa|tunica mucosa (ductus deferens)|vas deferens mucous membrane|vas deferens organ mucosa|sperm duct mucous membrane|vas deferen mucosa|mucosa of organ of vas deferens|organ mucosa of deferent duct|mucous membrane of deferent duct|deferent duct mucosa of organ|ductus deferens mucosa of organ|mucosa of organ of sperm duct|vas deferen organ mucosa|mucous membrane of ductus deferens|deferent ductal mucosa|organ mucosa of ductus deferens|mucosa of ductus deferens|mucosa of vas deferens|tunica mucosa ductus deferentis|mucosa of organ of deferent duct|mucous membrane of vas deferens|mucosa of sperm duct|ductus deferens mucosa|organ mucosa of vas deferens|deferent duct mucous membrane|organ mucosa of vas deferen|mucosa of organ of ductus deferens|ductus deferens organ mucosa|organ mucosa of sperm duct|deferent duct mucosa|mucous membrane of vas deferen|mucous membrane of sperm duct|vas deferen mucosa of organ|ductus deferens mucous membrane|mucosa of vas deferen|deferent duct organ mucosa|vas deferens mucosa of organ|sperm duct mucosa of organ	http://purl.obolibrary.org/obo/UBERON_0004986	A mucosa that is part of a vas deferens [Automatically generated definition].	
UBERON:0002325	epithelium of urethra	biolink:AnatomicalEntity	mondo			urethra epithelial tissue|urethral epithelium|urethral plate|urethra epithelium|epithelial tissue of urethra|urethral seam	http://purl.obolibrary.org/obo/UBERON_0002325	The urethra is a renal system organ that carries urine from the bladder to outside the body. The epithelium is the tubular, planar layer of cells through which the urine passes..	
UBERON:0004983	mucosa of vagina	biolink:AnatomicalEntity	mondo			vagina mucosa|vagina mucous membrane|vagina organ mucosa|mucosa of organ of vagina|tunica mucosa vaginae|mucous membrane of vagina|organ mucosa of vagina|vaginal mucosa|vagina mucosa of organ	http://purl.obolibrary.org/obo/UBERON_0004983	A mucosa that is part of a vagina [Automatically generated definition].	
UBERON:0004984	mucosa of seminal vesicle	biolink:AnatomicalEntity	mondo			seminal gland organ mucosa|mucosa of organ of seminal vesicle|organ mucosa of seminal gland|seminal gland mucosa of organ|seminal vesicle mucous membrane|mucous membrane of seminal gland|tunica mucosa glandulae vesiculosae|mucosa of seminal gland|seminal vesicle mucosa|seminal vesicle organ mucosa|mucosa of organ of seminal gland|seminal gland mucous membrane|mucous membrane of seminal vesicle|seminal vesicle mucosa of organ|organ mucosa of seminal vesicle|seminal gland mucosa	http://purl.obolibrary.org/obo/UBERON_0004984	A mucosa that is part of a seminal vesicle [Automatically generated definition].	
UBERON:0004982	mucosa of epiglottis	biolink:AnatomicalEntity	mondo			organ mucosa of epiglottis|mucous membrane of epiglottis|epiglottis mucosa|epiglottis mucosa of organ|epiglottis organ mucosa|epiglottis mucous membrane|mucosa of organ of epiglottis	http://purl.obolibrary.org/obo/UBERON_0004982	A mucosa that is part of a epiglottis [Automatically generated definition].	
UBERON:0002305	layer of hippocampus	biolink:AnatomicalEntity	mondo			layer of cornu ammonis|cytoarchitectural fields of hippocampal formation|hippocampus proper layer|hippocampus layer	http://purl.obolibrary.org/obo/UBERON_0002305	The layers of the laminar structure of the hippocampus.	
UBERON:0002308	nucleus of brain	biolink:AnatomicalEntity	mondo			brain nucleus|brain nuclei	http://purl.obolibrary.org/obo/UBERON_0002308	A neural nucleus that is part of the brain.	
UBERON:0002307	choroid plexus of lateral ventricle	biolink:AnatomicalEntity	mondo			chorioid plexus of lateral ventricle|chorioid plexus of cerebral hemisphere of lateral ventricle|lateral ventricle choroid plexus|lateral ventricle chorioid plexus of cerebral hemisphere|choroid plexus telencephalic ventricle	http://purl.obolibrary.org/obo/UBERON_0002307	Part of choroid plexus contained in the lateral ventricle	
GO:0044111	development involved in symbiotic interaction	biolink:OntologyClass	mondo			development on or near surface of other organism involved in symbiotic interaction|development during symbiotic interaction|development on or near surface of other organism during symbiotic interaction	http://purl.obolibrary.org/obo/GO_0044111	The progression of an organism from an initial condition to a later condition, occurring when the organism is in a symbiotic interaction.	
GO:0009743	response to carbohydrate	biolink:OntologyClass	mondo			response to carbohydrate stimulus	http://purl.obolibrary.org/obo/GO_0009743	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus.	
GO:0009746	response to hexose	biolink:OntologyClass	mondo			response to hexose stimulus	http://purl.obolibrary.org/obo/GO_0009746	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus.	
UBERON:0002315	gray matter of spinal cord	biolink:AnatomicalEntity	mondo			grey matter of spinal cord|gray substance of spinal cord|spinal cord grey matter|spinal cord gray matter|spinal cord grey substance|substantia grisea medullae spinalis|gray matter of spinal cord|grey substance of spinal cord	http://purl.obolibrary.org/obo/UBERON_0002315	The ridge-shaped grey matter of the spinal cord that extends longitudunally through the center of each half of the spinal cord, and are largely or entirely composed of nerve cell bodies and their dendrites and some supportive tissue.	
GO:0009749	response to glucose	biolink:OntologyClass	mondo			response to glucose stimulus	http://purl.obolibrary.org/obo/GO_0009749	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus.	
HGNC:838	ATP5F1E	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/838		
HGNC:812	ATP2A2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/812		
HGNC:811	ATP2A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/811		
FOODON:03411433	shellfish	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03411433	The term shellfish is used both broadly and specifically. For regulatory purposes it is often narrowly defined as filter-feeding molluscs such as clams, mussels, and oyster to the exclusion of crustaceans and all else. Although their shells may differ, all shellfish are invertebrates.	
CHEBI:47788	3-oxo steroid	biolink:ChemicalSubstance	mondo			3-oxosteroids|3-Oxosteroid|a 3-oxosteroid|3-oxo steroids	http://purl.obolibrary.org/obo/CHEBI_47788	Any oxo steroid where an oxo substituent is located at position 3.	
GO:0009712	catechol-containing compound metabolic process	biolink:OntologyClass	mondo			catechol metabolic process|catechol metabolism	http://purl.obolibrary.org/obo/GO_0009712	The chemical reactions and pathways involving a compound containing a pyrocatechol (1,2-benzenediol) nucleus or substituent.	
UBERON:0002302	myocardium of atrium	biolink:AnatomicalEntity	mondo			atrium cardiac muscle|atrium myocardium|atrial myocardium	http://purl.obolibrary.org/obo/UBERON_0002302	the atrial part of middle layer of the heart, comprised of involuntary muscle	
GO:0071745	IgA immunoglobulin complex	biolink:OntologyClass	mondo			IgA1 antibody|IgA2 antibody	http://purl.obolibrary.org/obo/GO_0071745	A protein complex composed of two identical immunoglobulin heavy chains of the IgA isotype and two identical immunoglobulin light chains, held together by disulfide bonds, and sometimes complexed with J chain or J chain and secretory component. An IgA immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph.	
UBERON:0002301	layer of neocortex	biolink:AnatomicalEntity	mondo			lamina of neocortex|layer of neocortex|cerebral cortex layer|neocortex layer|cortical layer	http://purl.obolibrary.org/obo/UBERON_0002301	One of the layers of the neocortex.	
GO:0009713	catechol-containing compound biosynthetic process	biolink:OntologyClass	mondo			catechol formation|catechol biosynthesis|catechol biosynthetic process|catechol anabolism|catechol synthesis	http://purl.obolibrary.org/obo/GO_0009713	The chemical reactions and pathways resulting in the formation of catechol-containing compounds. Catechol is a compound containing a pyrocatechol nucleus or substituent.	
UBERON:0002304	layer of dentate gyrus	biolink:AnatomicalEntity	mondo			dentate gyrus layer|dentate gyrus cell layer	http://purl.obolibrary.org/obo/UBERON_0002304	One of the three layers of the dentate gyrus of the hippocampal formation.	
GO:0071742	IgE immunoglobulin complex	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0071742	A protein complex composed of two identical immunoglobulin heavy chains of the IgE isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgE immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph.	
HGNC:804	ATP1B1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/804		
GO:0009719	response to endogenous stimulus	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0009719	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus arising within the organism.	
HGNC:823	ATP5F1A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/823		
UBERON:0004949	submucosa of main bronchus	biolink:AnatomicalEntity	mondo			bronchus principalis submucosa|submucosa of primary bronchus|main bronchial submucosa|main bronchus submucosa|principal bronchus submucosa|submucosa of bronchus principalis|primary bronchus submucosa|submucosa of principal bronchus	http://purl.obolibrary.org/obo/UBERON_0004949	A submucosa that is part of a main bronchus [Automatically generated definition].	
UBERON:0004947	submucosa of right main bronchus	biolink:AnatomicalEntity	mondo			right principal bronchus submucosa|right bronchus submucosa|right main bronchus submucosa|submucosa of right principal bronchus|submucosa of right bronchus|right main bronchial submucosa	http://purl.obolibrary.org/obo/UBERON_0004947	A submucosa that is part of a right main bronchus [Automatically generated definition].	
UBERON:0004948	submucosa of left main bronchus	biolink:AnatomicalEntity	mondo			left bronchus submucosa|left main bronchial submucosa|left main bronchus submucosa|submucosa of left principal bronchus|submucosa of left bronchus|left principal bronchus submucosa	http://purl.obolibrary.org/obo/UBERON_0004948	A submucosa that is part of a left main bronchus [Automatically generated definition].	
UBERON:0004945	submucosa of neck of urinary bladder	biolink:AnatomicalEntity	mondo			vesical neck submucosa|urinary bladder neck submucosa|submucosa of bladder neck|neck of urinary bladder submucosa|submucosa of vesical neck|submucosa of neck of bladder|submucosa of urinary bladder neck|neck of bladder submucosa|bladder neck submucosa	http://purl.obolibrary.org/obo/UBERON_0004945	A submucosa that is part of a neck of urinary bladder [Automatically generated definition].	
UBERON:0004946	submucosa of ileum	biolink:AnatomicalEntity	mondo			ileum submucosa|ileal submucosa	http://purl.obolibrary.org/obo/UBERON_0004946	A submucosa that is part of a ileum [Automatically generated definition].	
NCBITaxon:142786	Norovirus	organism taxon	mondo	GC_ID:1		Norwalk-like viruses	http://purl.obolibrary.org/obo/NCBITaxon_142786		
UBERON:0016928	metaphysis of fibula	biolink:AnatomicalEntity	mondo			fibular metaphysis|fibula metaphysis	http://purl.obolibrary.org/obo/UBERON_0016928	A metaphysis that is part of a fibula.	
GO:0071738	IgD immunoglobulin complex	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0071738	A protein complex composed of two identical immunoglobulin heavy chains of the IgD isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgD immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph.	
GO:0071735	IgG immunoglobulin complex	biolink:OntologyClass	mondo			IgG4|IgG3|IgG2c|IgG2|IgG2b|IgG1|IgG2a	http://purl.obolibrary.org/obo/GO_0071735	A protein complex composed of two identical immunoglobulin heavy chains of an IgG isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgG immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph.	
GO:0009725	response to hormone	biolink:OntologyClass	mondo			response to hormone stimulus|growth regulator	http://purl.obolibrary.org/obo/GO_0009725	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus.	
UBERON:0004952	submucosa of bronchiole	biolink:AnatomicalEntity	mondo			submucosa of lobular bronchiole|bronchiole submucosa|lobular bronchiole submucosa	http://purl.obolibrary.org/obo/UBERON_0004952	A submucosa that is part of a bronchiole [Automatically generated definition].	
UBERON:0004950	submucosa of lobar bronchus	biolink:AnatomicalEntity	mondo			lobar bronchus submucosa|lobar bronchial submucosa|secondary bronchus submucosa|submucosa of secondary bronchus	http://purl.obolibrary.org/obo/UBERON_0004950	A submucosa that is part of a lobar bronchus [Automatically generated definition].	
UBERON:0004951	submucosa of segmental bronchus	biolink:AnatomicalEntity	mondo			segmental bronchus submucosa|submucosa of tertiary bronchus|tertiary bronchus submucosa|segmental bronchial submucosa	http://purl.obolibrary.org/obo/UBERON_0004951	A submucosa that is part of a segmental bronchus [Automatically generated definition].	
HGNC:815	ATP2B2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/815		
GO:0019184	nonribosomal peptide biosynthetic process	biolink:OntologyClass	mondo			nonribosomal peptide anabolism|non-ribosomal peptide biosynthesis|non-ribosomal peptide biosynthetic process|nonribosomal peptide biosynthesis|nonribosomal peptide synthesis|non-ribosomal peptide synthesis|nonribosomal peptide formation|non-ribosomal peptide formation|nonribosomal peptide synthetase	http://purl.obolibrary.org/obo/GO_0019184	The biosynthetic process in which peptide bond formation occurs in the absence of the translational machinery. Examples include the synthesis of antibiotic peptides, and glutathione.	
ECTO:0000231	chemical entity exposure	biolink:OntologyClass	mondo			exposure to chemical entity	http://purl.obolibrary.org/obo/ECTO_0000231	An exposure to chemical entity.	
MONDO:0042486	polyposis syndrome, hereditary mixed, 1	biolink:Disease	mondo	DOID:0111685|OMIM:601228	predisposition	colorectal cancer, susceptibility to, on chromosome 15|colorectal cancer, susceptibility to, 4|HMPS1|chromosome 15Q13-q14 Duplication syndrome, 40-Kb|polyposis syndrome, hereditary mixed, 1; HMPS1|colorectal adenoma and carcinoma 1	http://purl.obolibrary.org/obo/MONDO_0042486		DOID:0111685|http://identifiers.org/omim/601228
MONDO:0042487	uterine cervix carcinoma in situ	biolink:Disease	mondo	ICD10:D06|NCIT:C4000|ICD10:D06.9|SCTID:254889004|ICD10CM:D06|DOID:8991|COHD:194611|ICD10CM:D06.9|MESH:D018290|UMLS:C0851140|ICD9:233.1		carcinoma in situ of the uterine cervix aJCC v6|intraepithelial neoplasia of the uterine cervix grade 3 aJCC v6|FIGO stage 0 cervical carcinoma|severe dysplasia of the cervix uteri|FIGO stage 0 carcinoma of the uterine cervix|grade 3 cervical intraepithelial neoplasia aJCC v6|stage 0 uterine cervix carcinoma|severe dysplasia of cervix|uterine cervix Severe dysplasia aJCC v6|carcinoma in situ of uterine cervix|severe dysplasia of cervix aJCC v6|cervix intraepithelial neoplasia grade 3 aJCC v6|cervix uteri Severe dysplasia aJCC v6|cervix carcinoma in situ aJCC v6|severe dysplasia of the cervix aJCC v6|cervical intraepithelial neoplasia grade III with severe dysplasia|FIGO stage 0 cervix carcinoma|cervix uteri intraepithelial neoplasia grade 3 aJCC v6|stage 0 cervical cancer aJCC v6|cervix Severe dysplasia aJCC v6|severe dysplasia of cervix uteri aJCC v6|cervical cancer stage 0 aJCC v6|cervix uteri carcinoma in situ aJCC v6|CIN grade 3 aJCC v6|uterine cervix carcinoma in situ aJCC v6|severe dysplasia of uterine cervix aJCC v6|CIN III|severe dysplasia of the cervix uteri aJCC v6|uterine cervix intraepithelial neoplasia grade 3 aJCC v6|severe dysplasia of the uterine cervix aJCC v6|FIGO stage 0 cervix uteri carcinoma|carcinoma in situ of cervix|FIGO stage 0 uterine cervix carcinoma|CIN III - severe dyskaryosis|FIGO stage 0 carcinoma of cervix|carcinoma in situ of cervix aJCC v6|cervix uteri carcinoma in situ|intraepithelial neoplasia of cervix grade 3 aJCC v6|CIN III - carcinoma in situ of cervix|FIGO stage 0 carcinoma of the cervix|carcinoma in situ of the cervix aJCC v6|intraepithelial neoplasia of the cervix grade 3 aJCC v6|cervical Severe dysplasia aJCC v6|carcinoma of cervix stage 0|intraepithelial neoplasia of cervix uteri grade 3 aJCC v6|stage 0 cervical cancer|FIGO stage 0 carcinoma of cervix uteri|cervix Ca in situ|carcinoma in situ of cervix uteri aJCC v6|squamous intraepithelial neoplasia, grade III|cervical carcinoma in situ aJCC v6|cervical intraepithelial neoplasia grade 3 aJCC v6|intraepithelial neoplasia of the cervix uteri grade 3 aJCC v6|carcinoma in situ of the cervix uteri aJCC v6|FIGO stage 0 carcinoma of the cervix uteri|FIGO stage 0 carcinoma of uterine cervix|CIN 3 aJCC v6|severe cervical dysplasia aJCC v6|intraepithelial neoplasia of uterine cervix grade 3 aJCC v6|carcinoma in situ of uterine cervix aJCC v6	http://purl.obolibrary.org/obo/MONDO_0042487	Stage 0 includes: (Tis, N0, M0). Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.) - 2003	MESH:D018290|UMLS:C0851140|NCIT:C4000|DOID:8991|SNOMEDCT:254889004
MONDO:0042488	Cestode infectious disease	biolink:Disease	mondo	EFO:1001287|MESH:D002590|SCTID:86133004|ICD9:123.9|ICD9:123.8		Coenuriasis|Raillietiniasis|Cestoda infectious disease|Dipylidiases|Cenuriases|Cestoda caused disease or disorder|cestode infestation|Cestodiasis|Dipylidiasis|Cenuriasis|infection, tapeworm|tapeworm infections|infections, cestode|infections, tapeworm|tapeworm infection|Bertielliases|Coenuriases|Cestoda disease or disorder|Raillietiniases|Cestodosis|infection, cestode|cestode infection|disease due to Cestoda|Bertielliasis	http://purl.obolibrary.org/obo/MONDO_0042488	Infections with true tapeworms of the helminth subclass Cestoda.	SNOMEDCT:86133004|MESH:D002590
MONDO:0042489	disease susceptibility	biolink:Disease	mondo	MESH:D004198	predisposition	susceptibilities, disease|disease susceptibilities|susceptibility, disease|diatheses|diathesis	http://purl.obolibrary.org/obo/MONDO_0042489	A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases.	MESH:D004198
MONDO:0042484	disseminated sporotrichosis	biolink:Disease	mondo	UMLS:C0276725|SCTID:91051003		disseminated sporotrichosis	http://purl.obolibrary.org/obo/MONDO_0042484		UMLS:C0276725|SNOMEDCT:91051003
MONDO:0042485	infective arthritis	biolink:Disease	mondo	GARD:0006781|NCIT:C26700		infective arthritis|septic arthritis	http://purl.obolibrary.org/obo/MONDO_0042485	The inflammation of one or more joints caused by any infectious pathogen within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint.	NCIT:C26700
MONDO:0042490	neutropenia, severe congenital, 1, autosomal dominant	biolink:Disease	mondo	MESH:C565969|DOID:0080625|OMIM:202700		SCN1|neutropenia, severe congenital, 1, autosomal dominant; SCN1|neutropenia, severe congenital, 1, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0042490		DOID:0080625|http://identifiers.org/omim/202700|MESH:C565969
MONDO:0017490	tibial hemimelia, unilateral	biolink:Disease	mondo	UMLS:CN203228|Orphanet:295077|ICD10:Q72.5	ordo_clinical_subtype	tibial longitudinal meromelia, unilateral	http://purl.obolibrary.org/obo/MONDO_0017490		ORPHA:295077|UMLS:CN203228
MONDO:0017491	tibial hemimelia, bilateral	biolink:Disease	mondo	UMLS:CN203229|ICD10:Q72.5|Orphanet:295079	ordo_clinical_subtype	tibial longitudinal meromelia, bilateral	http://purl.obolibrary.org/obo/MONDO_0017491		ORPHA:295079|UMLS:CN203229
MONDO:0042491	cervical squamous intraepithelial neoplasia	biolink:Disease	mondo	MESH:D065310|NCIT:C7346		CIN|cervix uteri squamous intraepithelial lesion|uterine cervix squamous intraepithelial lesion|squamous intraepithelial lesion of cervix|cervix uteri sil|squamous intraepithelial lesion of the cervix|uterine cervix sil|squamous intraepithelial lesion of cervix uteri|cervical squamous intraepithelial lesion|cervical squamous intraepithelial neoplasia|squamous intraepithelial lesion of the cervix uteri|squamous intraepithelial lesion of uterine cervix|squamous intraepithelial lesion of the uterine cervix|cervical sil|cervix squamous intraepithelial lesion	http://purl.obolibrary.org/obo/MONDO_0042491	A neoplastic process that affects the squamous epithelium of the cervix. It is classified as cervical squamous intraepithelial neoplasia 1, 2, or 3, according to the degree of squamous cell maturation and cellular atypia, and the number of mitotic figures.	MESH:D065310|NCIT:C7346
ECTO:0000207	carbon monoxide exposure	biolink:OntologyClass	mondo			exposure to carbon monoxide	http://purl.obolibrary.org/obo/ECTO_0000207	An exposure to carbon monoxide.	
MONDO:0017492	fibular hemimelia, unilateral	biolink:Disease	mondo	ICD10:Q72.6|Orphanet:295081	ordo_clinical_subtype	fibular longitudinal meromelia, unilateral	http://purl.obolibrary.org/obo/MONDO_0017492		ORPHA:295081
MONDO:0042492		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0042492		
MONDO:0042497	mycotoxicosis	biolink:Disease	mondo	SCTID:26033009|MESH:D015651		poisoning, fungus|Poisonings, fungus|Fungi poisoning|fungus Poisonings|Mycotoxicoses|fungus poisoning|Fungi caused poisoning	http://purl.obolibrary.org/obo/MONDO_0042497	Poisoning caused by the ingestion of mycotoxins (toxins of fungal origin).	SNOMEDCT:26033009|MESH:D015651
MONDO:0042498	Ruzicka-Goerz-Anton syndrome	biolink:Disease	mondo	GARD:0000210|UMLS:C2931438|MESH:C537192	gard_rare	ichthyosis congenita, neurosensory deafness, oligophrenia, dental aplasia, brachydactyly, clinodactyly, accessory cervical ribs and thyroid carcinoma|Ruzicka Goerz Anton syndrome|ichthyosis deafness intellectual disability skeletal anomalies|ichthyosis deafness mental retardation skeletal anomalies	http://purl.obolibrary.org/obo/MONDO_0042498		UMLS:C2931438|MESH:C537192
CHEBI:140499	kaolinite	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_140499	An aluminosilicate mineral with approximate chemical composition H2Al2Si2O8.H2O. Rocks that are rich in kaolinite are known as kaolin or china clay.	
MONDO:0042499	benign familial neonatal-infantile seizures 1	biolink:Disease	mondo	OMIM:601764|GARD:0000856		benign infantile familial convulsions 1|seizures, benign familial infantile, 1; BFIS1|seizures, benign familial infantile, 1|benign familial infantile convulsions syndrome|convulsions, benign familial infantile, 1|benign familial infantile convulsions syndrome 1|benign infantile familial convulsions|BFIC1|BFIS1	http://purl.obolibrary.org/obo/MONDO_0042499		http://identifiers.org/omim/601764
MONDO:0042493	gastric non-hodgkin lymphoma	biolink:Disease	mondo	NCIT:C27235|UMLS:C1333784|GARD:0000089|SCTID:448709005	gard_rare	non-Hodgkin lymphoma of stomach|non-Hodgkins gastric lymphoma|lymphoma, gastric non Hodgkins type|gastric non-Hodgkin's lymphoma|non-Hodgkin's lymphoma of the stomach|primary gastric non-Hodgkin's lymphoma|non-Hodgkin's lymphoma of stomach|gastric non-Hodgkin lymphoma|stomach lymphoma, non-Hodgkins type|stomach non-Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0042493	An extranodal non-Hodgkin lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue.	UMLS:C1333784|SNOMEDCT:448709005|NCIT:C27235
MONDO:0042494	childhood malignant melanoma	biolink:Disease	mondo	GARD:0000091|NCIT:C131506|UMLS:C4329660	gard_rare	pediatric melanoma (disease)|melanoma (disease) of childhood|childhood melanoma|pediatric melanoma (disease)|malignant melanoma, childhood|childhood melanoma (disease)	http://purl.obolibrary.org/obo/MONDO_0042494	A melanoma that occurs during childhood.	UMLS:C4329660|NCIT:C131506
MONDO:0042495	arteriosclerotic retinopathy	biolink:Disease	mondo	SCTID:95691008|UMLS:C0339478|ICD9:440.8|GARD:0000113	gard_rare	retinal arteriosclerosis|retina arteriosclerosis disorder|retinopathy, arteriosclerotic|arteriosclerosis, retina|arteriosclerosis disorder of retina|arteriosclerotic retinopathy	http://purl.obolibrary.org/obo/MONDO_0042495	A arteriosclerosis disorder that involves the retina.	SNOMEDCT:95691008|UMLS:C0339478
MONDO:0042496	ergotism	biolink:Disease	mondo	GARD:0000196|ICD9:988.2|SCTID:51510002|MESH:D004881	gard_rare	poisonings, ergot|poisoning, ergot|St. Anthony fire|Saint Anthony's fire|ergotisms|ergotism|Saint Anthonys fire|Saint Anthony fire|ergot poisonings|ergot poisoning|St. Anthonys fire|fire, St. Anthonys|St. Anthony's fire|St Anthony's fire	http://purl.obolibrary.org/obo/MONDO_0042496	Poisoning caused by ingesting ergotized grain or by the misdirected or excessive use of ergot as a medicine.	MESH:D004881|SNOMEDCT:51510002
MONDO:0017497	congenital absence of thigh and lower leg with foot present, bilateral	biolink:Disease	mondo	Orphanet:295091|ICD10:Q72.13|ICD10:Q72.1	ordo_clinical_subtype	Femorotibiofibular intercalary transverse meromelia, bilateral	http://purl.obolibrary.org/obo/MONDO_0017497		ORPHA:295091
MONDO:0017498	congenital absence of both forearm and hand, unilateral	biolink:Disease	mondo	ICD10:Q71.2|Orphanet:295093	ordo_clinical_subtype	radio-ulnar terminal transverse meromelia, unilateral	http://purl.obolibrary.org/obo/MONDO_0017498	Congenital absence of both forearm and hand, unilateral is a rare developmental defect during embryogenesis characterized by a unilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand. Left or right side may be involved.	ORPHA:295093
MONDO:0017499	congenital absence of both forearm and hand, bilateral	biolink:Disease	mondo	ICD10:Q71.2|ICD10:Q71.23|Orphanet:295095	ordo_clinical_subtype	radio-ulnar terminal transverse meromelia, bilateral	http://purl.obolibrary.org/obo/MONDO_0017499	Congenital absence of both forearm and hand, bilateral is a rare developmental defect during embryogenesis characterized by a bilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand.	ORPHA:295095
MONDO:0017493	fibular hemimelia, bilateral	biolink:Disease	mondo	ICD10:Q72.6|Orphanet:295083	ordo_clinical_subtype	fibular longitudinal meromelia, bilateral	http://purl.obolibrary.org/obo/MONDO_0017493		ORPHA:295083
MONDO:0017494	obsolete congenital absence of upper arm and forearm with hand present, unilateral	biolink:Disease	mondo	ICD10:Q71.1|Orphanet:295085		humero-radio-ulnar intercalary transverse meromelia, unilateral	http://purl.obolibrary.org/obo/MONDO_0017494		ORPHA:295085
MONDO:0017495	obsolete congenital absence of upper arm and forearm with hand present, bilateral	biolink:Disease	mondo	ICD10:Q71.13|ICD10:Q71.1|Orphanet:295087		humero-radio-ulnar intercalary transverse meromelia, bilateral	http://purl.obolibrary.org/obo/MONDO_0017495		ORPHA:295087
MONDO:0017496	congenital absence of thigh and lower leg with foot present, unilateral	biolink:Disease	mondo	Orphanet:295089|ICD10:Q72.1	ordo_clinical_subtype	Femorotibiofibular intercalary transverse meromelia, unilateral	http://purl.obolibrary.org/obo/MONDO_0017496		ORPHA:295089
MONDO:0017480	amelia of lower limb, unilateral	biolink:Disease	mondo	Orphanet:295057|ICD10:Q72.0	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017480		ORPHA:295057
MONDO:0017481	amelia of lower limb, bilateral	biolink:Disease	mondo	Orphanet:295059|ICD10:Q72.0	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017481		ORPHA:295059
CHEBI:84735	algal metabolite	biolink:ChemicalSubstance	mondo			algal metabolites	http://purl.obolibrary.org/obo/CHEBI_84735	Any eukaryotic metabolite produced during a metabolic reaction in algae including unicellular organisms like chlorella and diatoms to multicellular organisms like giant kelps and brown algae.	
MONDO:0017486	radial hemimelia, unilateral	biolink:Disease	mondo	Orphanet:295069|ICD10:Q71.4	ordo_clinical_subtype	radial longitidinal meromelia, unilateral	http://purl.obolibrary.org/obo/MONDO_0017486		ORPHA:295069
MONDO:0017487	radial hemimelia, bilateral	biolink:Disease	mondo	ICD10:Q71.4|Orphanet:295071	ordo_clinical_subtype	radial longitidinal meromelia, bilateral	http://purl.obolibrary.org/obo/MONDO_0017487		ORPHA:295071
MONDO:0017488	ulnar hemimelia, bilateral	biolink:Disease	mondo	ICD10:Q71.5|Orphanet:295073	ordo_clinical_subtype	ulnar longitudinal meromelia, bilateral	http://purl.obolibrary.org/obo/MONDO_0017488		ORPHA:295073
MONDO:0017489	ulnar hemimelia, unilateral	biolink:Disease	mondo	ICD10:Q71.5|Orphanet:295075	ordo_clinical_subtype	ulnar longitudinal meromelia, unilateral	http://purl.obolibrary.org/obo/MONDO_0017489		ORPHA:295075
MONDO:0017482	humeral agenesis/hypoplasia, unilateral	biolink:Disease	mondo	ICD10:Q71.8|Orphanet:295061	ordo_clinical_subtype	humeral intercalary meromelia, unilateral	http://purl.obolibrary.org/obo/MONDO_0017482		ORPHA:295061
MONDO:0017483	humeral agenesis/hypoplasia, bilateral	biolink:Disease	mondo	Orphanet:295063|ICD10:Q71.8	ordo_clinical_subtype	humeral intercalary meromelia, bilateral	http://purl.obolibrary.org/obo/MONDO_0017483		ORPHA:295063
MONDO:0017484	femoral agenesis/hypoplasia, unilateral	biolink:Disease	mondo	ICD10:Q72.4|Orphanet:295065	ordo_clinical_subtype	femoral intercalary meromelia, unilateral	http://purl.obolibrary.org/obo/MONDO_0017484		ORPHA:295065
MONDO:0017485	femoral agenesis/hypoplasia, bilateral	biolink:Disease	mondo	ICD10:Q72.4|Orphanet:295067	ordo_clinical_subtype	femoral intercalary meromelia, bilateral	http://purl.obolibrary.org/obo/MONDO_0017485		ORPHA:295067
GO:0007159	leukocyte cell-cell adhesion	biolink:OntologyClass	mondo			leukocyte adhesion|leukocyte cell adhesion	http://purl.obolibrary.org/obo/GO_0007159	The attachment of a leukocyte to another cell via adhesion molecules.	
MONDO:0042433	mycotic endocarditis	biolink:Disease	mondo	SCTID:86348002|UMLS:C0276648		Fungi caused endocarditis (disease)|mycotic endocarditis|fungal endocarditis|Fungi endocarditis (disease)	http://purl.obolibrary.org/obo/MONDO_0042433	An endocarditis (disease) caused by infection with Fungi.	SNOMEDCT:86348002|UMLS:C0276648
GO:0007155	cell adhesion	biolink:OntologyClass	mondo			single organism cell adhesion|cell adhesion molecule activity	http://purl.obolibrary.org/obo/GO_0007155	The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.	
GO:0007154	cell communication	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0007154	Any process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment.	
GO:0007162	negative regulation of cell adhesion	biolink:OntologyClass	mondo			cell adhesion receptor inhibitor activity|down-regulation of cell adhesion|down regulation of cell adhesion|inhibition of cell adhesion|downregulation of cell adhesion	http://purl.obolibrary.org/obo/GO_0007162	Any process that stops, prevents, or reduces the frequency, rate or extent of cell adhesion.	
GO:0032114	regulation of glucose-6-phosphatase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0032114	Any process that modulates the frequency, rate or extent of glucose-6-phosphatase activity, the catalysis of the reaction: D-glucose 6-phosphate + H2O = D-glucose + phosphate.	
GO:0032113	regulation of carbohydrate phosphatase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0032113	Any process that modulates the frequency, rate or extent of carbohydrate phosphatase activity, the catalysis of the hydrolysis of phosphate from a carbohydrate phosphate.	
GO:0032109	positive regulation of response to nutrient levels	biolink:OntologyClass	mondo			up-regulation of response to nutrient levels|up regulation of response to nutrient levels|activation of response to nutrient levels|stimulation of response to nutrient levels|upregulation of response to nutrient levels	http://purl.obolibrary.org/obo/GO_0032109	Any process that activates or increases the frequency, rate or extent of a response to nutrient levels.	
GO:0032108	negative regulation of response to nutrient levels	biolink:OntologyClass	mondo			downregulation of response to nutrient levels|inhibition of response to nutrient levels|down-regulation of response to nutrient levels|down regulation of response to nutrient levels	http://purl.obolibrary.org/obo/GO_0032108	Any process that stops, prevents, or reduces the frequency, rate or extent of a response to nutrient levels.	
GO:0032107	regulation of response to nutrient levels	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0032107	Any process that modulates the frequency, rate or extent of a response to nutrient levels.	
GO:0032106	positive regulation of response to extracellular stimulus	biolink:OntologyClass	mondo			stimulation of response to extracellular stimulus|up-regulation of response to extracellular stimulus|activation of response to extracellular stimulus|upregulation of response to extracellular stimulus|up regulation of response to extracellular stimulus	http://purl.obolibrary.org/obo/GO_0032106	Any process that activates, maintains or increases the rate of a response to an extracellular stimulus.	
GO:0032105	negative regulation of response to extracellular stimulus	biolink:OntologyClass	mondo			downregulation of response to extracellular stimulus|down regulation of response to extracellular stimulus|inhibition of response to extracellular stimulus|down-regulation of response to extracellular stimulus	http://purl.obolibrary.org/obo/GO_0032105	Any process that stops, prevents, or reduces the frequency, rate or extent of a response to an extracellular stimulus.	
GO:0034767	positive regulation of ion transmembrane transport	biolink:OntologyClass	mondo			up-regulation of transmembrane ion transport|up regulation of transmembrane ion transport|activation of transmembrane ion transport|positive regulation of transmembrane ion transport|stimulation of transmembrane ion transport|positive regulation of ion membrane transport|upregulation of transmembrane ion transport	http://purl.obolibrary.org/obo/GO_0034767	Any process that activates or increases the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other.	
GO:0007166	cell surface receptor signaling pathway	biolink:OntologyClass	mondo			cell surface receptor linked signalling pathway|cell surface receptor linked signal transduction|cell surface receptor linked signaling pathway	http://purl.obolibrary.org/obo/GO_0007166	A series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription.	
GO:0007165	signal transduction	biolink:OntologyClass	mondo			signal transduction by trans-phosphorylation|signalling cascade|signal transduction by protein phosphorylation|signaling cascade|signalling pathway|signal transduction by conformational transition|signal transduction by cis-phosphorylation|signaling pathway	http://purl.obolibrary.org/obo/GO_0007165	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.	
GO:0034760	negative regulation of iron ion transmembrane transport	biolink:OntologyClass	mondo			negative regulation of transmembrane iron transport|downregulation of transmembrane iron ion transport|down regulation of transmembrane iron ion transport|negative regulation of iron ion membrane transport|inhibition of transmembrane iron ion transport|down-regulation of transmembrane iron ion transport|negative regulation of transmembrane iron ion transport	http://purl.obolibrary.org/obo/GO_0034760	Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of iron ions from one side of a membrane to the other by means of some agent such as a transporter or pore.	
GO:0034761	positive regulation of iron ion transmembrane transport	biolink:OntologyClass	mondo			positive regulation of transmembrane iron ion transport|up regulation of transmembrane iron ion transport|stimulation of transmembrane iron ion transport|up-regulation of transmembrane iron ion transport|positive regulation of iron ion membrane transport|activation of transmembrane iron ion transport|positive regulation of transmembrane iron transport|upregulation of transmembrane iron ion transport	http://purl.obolibrary.org/obo/GO_0034761	Any process that activates or increases the frequency, rate or extent of the directed movement of iron ions from one side of a membrane to the other by means of some agent such as a transporter or pore.	
GO:0034762	regulation of transmembrane transport	biolink:OntologyClass	mondo			regulation of membrane transport	http://purl.obolibrary.org/obo/GO_0034762	Any process that modulates the frequency, rate or extent of the directed movement of a solute from one side of a membrane to the other.	
GO:0034763	negative regulation of transmembrane transport	biolink:OntologyClass	mondo			negative regulation of membrane transport|down-regulation of transmembrane transport|down regulation of transmembrane transport|downregulation of transmembrane transport|inhibition of transmembrane transport	http://purl.obolibrary.org/obo/GO_0034763	Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a solute from one side of a membrane to the other.	
CHEBI:60798	excitatory amino acid antagonist	biolink:ChemicalSubstance	mondo			excitatory amino acid receptor antagonist|EAA receptor antagonist|EAA receptor antagonists|excitatory amino acid antagonists|excitatory amino acid receptor antagonists	http://purl.obolibrary.org/obo/CHEBI_60798	Any substance which inhibits the action of receptors for excitatory amino acids.	
GO:0034764	positive regulation of transmembrane transport	biolink:OntologyClass	mondo			activation of transmembrane transport|stimulation of transmembrane transport|upregulation of transmembrane transport|positive regulation of membrane transport|up-regulation of transmembrane transport|up regulation of transmembrane transport	http://purl.obolibrary.org/obo/GO_0034764	Any process that activates or increases the frequency, rate or extent of the directed movement of a solute from one side of a membrane to the other.	
GO:0034765	regulation of ion transmembrane transport	biolink:OntologyClass	mondo			regulation of transmembrane ion transport|regulation of ion membrane transport	http://purl.obolibrary.org/obo/GO_0034765	Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other.	
GO:0034766	negative regulation of ion transmembrane transport	biolink:OntologyClass	mondo			down regulation of transmembrane ion transport|inhibition of transmembrane ion transport|downregulation of transmembrane ion transport|negative regulation of ion membrane transport|down-regulation of transmembrane ion transport|negative regulation of transmembrane ion transport	http://purl.obolibrary.org/obo/GO_0034766	Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other.	
GO:0032104	regulation of response to extracellular stimulus	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0032104	Any process that modulates the frequency, rate or extent of a response to an extracellular stimulus.	
GO:0032103	positive regulation of response to external stimulus	biolink:OntologyClass	mondo			stimulation of response to external stimulus|upregulation of response to external stimulus|up-regulation of response to external stimulus|up regulation of response to external stimulus|activation of response to external stimulus	http://purl.obolibrary.org/obo/GO_0032103	Any process that activates, maintains or increases the rate of a response to an external stimulus.	
GO:0032102	negative regulation of response to external stimulus	biolink:OntologyClass	mondo			down-regulation of response to external stimulus|down regulation of response to external stimulus|inhibition of response to external stimulus|downregulation of response to external stimulus	http://purl.obolibrary.org/obo/GO_0032102	Any process that stops, prevents, or reduces the frequency, rate or extent of a response to an external stimulus.	
GO:0032101	regulation of response to external stimulus	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0032101	Any process that modulates the frequency, rate or extent of a response to an external stimulus.	
ECTO:0000200	lipid exposure	biolink:OntologyClass	mondo			exposure to lipid	http://purl.obolibrary.org/obo/ECTO_0000200	An exposure to lipid.	
HGNC:897	AVPR2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/897		
HGNC:894	AVP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/894		
FOODON:00003194	vegetarian food product	biolink:OntologyClass	mondo			vegetarian food	http://purl.obolibrary.org/obo/FOODON_00003194	A food product not including meat and animal tissue products (such as gelatin or animal-derived rennet).	
GO:0034756	regulation of iron ion transport	biolink:OntologyClass	mondo			regulation of Fe transport|regulation of iron ion import|regulation of iron transport|regulation of iron import	http://purl.obolibrary.org/obo/GO_0034756	Any process that modulates the frequency, rate or extent of the directed movement of iron ions (Fe) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
HGNC:27365	TECRL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/27365		
GO:0034757	negative regulation of iron ion transport	biolink:OntologyClass	mondo			downregulation of iron ion transport|down regulation of iron ion transport|inhibition of iron ion transport|down-regulation of iron ion transport|negative regulation of iron transport	http://purl.obolibrary.org/obo/GO_0034757	Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of iron ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
GO:0046700	heterocycle catabolic process	biolink:OntologyClass	mondo			heterocycle degradation|heterocycle breakdown|heterocycle catabolism	http://purl.obolibrary.org/obo/GO_0046700	The chemical reactions and pathways resulting in the breakdown of heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings).	
GO:0034758	positive regulation of iron ion transport	biolink:OntologyClass	mondo			up-regulation of iron ion transport|activation of iron ion transport|positive regulation of iron transport|upregulation of iron ion transport|up regulation of iron ion transport|stimulation of iron ion transport	http://purl.obolibrary.org/obo/GO_0034758	Any process that activates or increases the frequency, rate or extent of the directed movement of iron ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
GO:0007135	meiosis II	biolink:OntologyClass	mondo			meiosis II nuclear division	http://purl.obolibrary.org/obo/GO_0007135	The second nuclear division of meiosis, in which the two chromatids in each chromosome are separated, resulting in four daughter nuclei from the two nuclei produced in meiosis II.	
HGNC:890	AUH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/890		
GO:0034759	regulation of iron ion transmembrane transport	biolink:OntologyClass	mondo			regulation of iron ion membrane transport|regulation of transmembrane iron transport|regulation of transmembrane iron ion transport|regulation of transmembrane Fe transport	http://purl.obolibrary.org/obo/GO_0034759	Any process that modulates the frequency, rate or extent of the directed movement of iron ions (Fe) from one side of a membrane to the other by means of some agent such as a transporter or pore.	
MONDO:0042451	endomyometritis	biolink:Disease	mondo	SCTID:88027004		endomyometritis	http://purl.obolibrary.org/obo/MONDO_0042451	An inflammation of the endometrium and the myometrium.	SNOMEDCT:88027004
MONDO:0042452	tertiary lesion of yaws	biolink:Disease	mondo	SCTID:88037009|UMLS:C0343833		tertiary yaws|tertiary stage of yaws|tertiary lesion of yaws	http://purl.obolibrary.org/obo/MONDO_0042452		UMLS:C0343833|SNOMEDCT:88037009
GO:0009792	embryo development ending in birth or egg hatching	biolink:OntologyClass	mondo			embryogenesis	http://purl.obolibrary.org/obo/GO_0009792	The process whose specific outcome is the progression of an embryo over time, from zygote formation until the end of the embryonic life stage. The end of the embryonic life stage is organism-specific and may be somewhat arbitrary; for mammals it is usually considered to be birth, for insects the hatching of the first instar larva from the eggshell.	
GO:0007140	male meiotic nuclear division	biolink:OntologyClass	mondo			male nuclear division|male meiosis	http://purl.obolibrary.org/obo/GO_0007140	A cell cycle process by which the cell nucleus divides as part of a meiotic cell cycle in the male germline.	
GO:0034755	iron ion transmembrane transport	biolink:OntologyClass	mondo			high-affinity iron ion transport|iron ion membrane transport|low affinity iron ion transport|iron(2+) transmembrane transport|high affinity iron ion transport|low-affinity iron ion transmembrane transport|high-affinity iron ion transmembrane transport|high affinity ferrous ion transmembrane transport|transmembrane iron transport|ferrous iron transmembrane transport|high-affinity ferrous ion transmembrane transport|ferrous ion transmembrane transport|low-affinity iron ion transport	http://purl.obolibrary.org/obo/GO_0034755	A process in which an iron ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore.	
HP:0004299	Hernia of the abdominal wall	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:128545000|Fyler:4414|UMLS:C1442978	hposlim_core	Herniated abdominal wall	http://purl.obolibrary.org/obo/HP_0004299	The presence of a hernia in the abdominal wall.	
HP:0004298	Abnormality of the abdominal wall	biolink:PhenotypicFeature	mondo	UMLS:C4021664	hposlim_core	Abnormality of external features of the abdomen|Abnormality of the abdominal wall	http://purl.obolibrary.org/obo/HP_0004298	The presence of any abnormality affecting the abdominal wall.	
HP:0004297	Abnormality of the biliary system	biolink:PhenotypicFeature	mondo	UMLS:C0940767			http://purl.obolibrary.org/obo/HP_0004297	An abnormality of the biliary system.	
HGNC:27375	MSRB3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/27375		
NCBITaxon:2169561	Ortervirales	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2169561		
GO:0007142	male meiosis II	biolink:OntologyClass	mondo			male meiosis II nuclear division	http://purl.obolibrary.org/obo/GO_0007142	A cell cycle process comprising the steps by which a cell progresses through male meiosis II, the second meiotic division in the male germline.	
MONDO:0042458	Trichinella spiralis infectious disease	biolink:Disease	mondo	SCTID:88264003|UMLS:C3887668		trichinelliasis caused by Trichinella spiralis|Trichinella spiralis disease or disorder|infection caused by larvae of Trichinella spiralis|infection by larvae of Trichinella spiralis|trichinellosis caused by Trichinella spiralis|Trichinella spiralis caused disease or disorder|trichiniasis caused by Trichinella spiralis|trichinosis caused by Trichinella spiralis	http://purl.obolibrary.org/obo/MONDO_0042458	An disease or disorder caused by infection with Trichinella spiralis.	SNOMEDCT:88264003|UMLS:C3887668
HP:0031899	Abnormal coagulation factor V activity	biolink:PhenotypicFeature	mondo			Abnormal factor V activity	http://purl.obolibrary.org/obo/HP_0031899	Any deviation from the activity of coagulation factor V.	
GO:0010795	regulation of ubiquinone biosynthetic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010795	Any process that modulates the frequency, rate or extent of ubiquinone biosynthesis. Ubiquinone biosynthesis consists of the chemical reactions and pathways resulting in the formation of ubiquinone, a lipid-soluble electron-transporting coenzyme.	
HGNC:15480	DIAPH3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15480		
MONDO:0005567	substance withdrawal syndrome	biolink:Disease	mondo	ICD9:292.0|SCTID:363101005|EFO:0005800|DOID:0060001|UMLS:C0152128|NCIT:C35046|MESH:D013375		withdrawal disorder|substance withdrawal|drug withdrawal|drug withdrawal syndrome|substance withdrawal disorder|substance withdrawal syndrome|withdrawal syndrome	http://purl.obolibrary.org/obo/MONDO_0005567	A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of an addictive substance, e.g. opioids, barbiturates and alcohol; amphetamines or similarly acting sympathomimetics; cocaine; nicotine; sedatives, hypnotics, or anxiolytics. Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions.	NCIT:C35046|MESH:D013375|DOID:0060001|SNOMEDCT:363101005|UMLS:C0152128
MONDO:0005566	neonatal abstinence syndrome	biolink:Disease	mondo	ICD9:779.5|SCTID:414819007|EFO:0005799|COHD:4212326|MESH:D009357|UMLS:C0027609|ICD9:760.8|ICD10:P96.1|DOID:9828|NCIT:C87101		neonatal narcotic withdrawal syndrome|NAS|drug withdrawal syndrome in newborn|neonatal withdrawal	http://purl.obolibrary.org/obo/MONDO_0005566	A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors.	UMLS:C0027609|SNOMEDCT:414819007|MESH:D009357|NCIT:C87101|DOID:9828
MONDO:0005569	cartilage disease	biolink:Disease	mondo	UMLS:C0007302|SCTID:50927007|EFO:0005802|ICD10:M94.9|MESH:D002357|ICD9:733.99|COHD:4178431|ICD10:M91-M94|DOID:1222		Chondropathy|cartilage tissue disease or disorder|cartilage disorder|disorder of cartilage tissue|disease of cartilage tissue|disease or disorder of cartilage tissue|disorder of cartilage tissue|cartilage tissue disease	http://purl.obolibrary.org/obo/MONDO_0005569	Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE).	SNOMEDCT:50927007|MESH:D002357|UMLS:C0007302|DOID:1222
MONDO:0005568	cholesterol embolism	biolink:Disease	mondo	ICD9:445|DOID:1461|MESH:D017700|UMLS:C0585266|EFO:0005801|ICD9:459.89|SCTID:307406004|UMLS:C0149649|ICD10:I75		warfarin blue toe syndrome|purple toe syndrome|atheroembolism|cholesterol crystal embolism|trash foot	http://purl.obolibrary.org/obo/MONDO_0005568	Blocking of a blood vessel by cholesterol-rich atheromatous deposits, generally occurring in the flow from a large artery to small arterial branches. It is also called arterial-arterial embolization or atheroembolism which may be spontaneous or iatrogenic. Patients with spontaneous atheroembolism often have painful, cyanotic digits of acute onset.	UMLS:C0585266|SNOMEDCT:307406004|DOID:1461|UMLS:C0149649|MESH:D017700
MONDO:0005563	nut midline carcinoma	biolink:Disease	mondo	ONCOTREE:NMCHN|NCIT:C45716|ICD10:C80.9|UMLS:C1707291|DOID:0060463|UMLS:CN237663|Orphanet:443167|EFO:0005783|Wikipedia:NUT_midline_carcinoma	ordo_disease	Midline carcinoma of children and Young adults with NUT rearrangement|NMC|NUT carcinoma|NUT midline carcinoma of the head and neck|nuclear protein in testis midline carcinoma|carcinoma with t(15;19)(q13;p13.1) translocation|NUT Midline carcinoma	http://purl.obolibrary.org/obo/MONDO_0005563	A rare, highly aggressive and lethal carcinoma that affects children and young adults. It arises from midline epithelial structures, most commonly the head, neck, and mediastinum. It is a poorly differentiated carcinoma and is characterized by mutations and rearrangement of the NUT gene. A balanced translocation t(15;19) is present that results in the creation of a fusion gene involving the NUT gene, most commonly BRD4-NUT fusion gene.	UMLS:C1707291|UMLS:CN237663|NCIT:C45716|DOID:0060463|ORPHA:443167
MONDO:0005562	age-related hearing impairment	biolink:Disease	mondo	DC:0000371|EFO:0005782		ARHI	http://purl.obolibrary.org/obo/MONDO_0005562	Age-related hearing impairment is characterized by a symmetric sensorineural hearing loss that is most pronounced in the high frequencies. Age of onset, progression, and severity of age-related hearing impairment (ARHI) show great variation in the population, but with a demonstrable increased prevalence in males.	
MONDO:0005565	blastoma	biolink:Disease	mondo	NCIT:C8997|DOID:0070003|EFO:0005785|ICDO:8981/3		blastoma|embryoma	http://purl.obolibrary.org/obo/MONDO_0005565	A malignant neoplasm composed of undifferentiated cells.	NCIT:C8997|DOID:0070003
MONDO:0005564	embryonal neoplasm	biolink:Disease	mondo	UMLS:C0027654|DOID:688|EFO:0005784|NCIT:C3264|ONCOTREE:EMBT		embryonal cancer|EMBT|embryo neoplasm|embryonal neoplasm|embryonal tumor	http://purl.obolibrary.org/obo/MONDO_0005564	A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003	UMLS:C0027654|DOID:688|NCIT:C3264
MONDO:0005561	aortic disease	biolink:Disease	mondo	ICD9:447.9|SCTID:47040006|NCIT:C101253|EFO:0005775|DOID:520|UMLS:C0003493|MESH:D001018		disorder of aorta|aorta disease|disease or disorder of aorta|disorder of the aorta|disease of aorta|aorta disease or disorder|disorder of aorta|aortic disorder	http://purl.obolibrary.org/obo/MONDO_0005561	Pathology involving the thoracic, thoracoabdominal, or abdominal aorta (including aneurysms). (ACC)	DOID:520|NCIT:C101253|UMLS:C0003493|MESH:D001018|SNOMEDCT:47040006
MONDO:0005560	brain disease	biolink:Disease	mondo	NCIT:C96413|ICD9:348.8|ICD9:348.3|ICD9:348.30|EFO:0005774|UMLS:C0085584|ICD9:348.9|MESH:D001927|ICD10:G93.9|UMLS:C0006111|DOID:936|ICD10:G93.40|SCTID:81308009		encephalopathy|disease of brain|brain disease or disorder|disorder of brain|disorder of brain|brain disease|disease or disorder of brain	http://purl.obolibrary.org/obo/MONDO_0005560	A disease affecting the brain or part of the brain.	MESH:D001927|DOID:936|UMLS:C0006111|SNOMEDCT:81308009|NCIT:C96413|UMLS:C0085584
MONDO:0017556	Madelung deformity, unilateral	biolink:Disease	mondo	ICD10:Q74.0|Orphanet:295221	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017556		ORPHA:295221
MONDO:0017557	Madelung deformity, bilateral	biolink:Disease	mondo	Orphanet:295223|ICD10:Q74.0	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017557		ORPHA:295223
MONDO:0017558	congenital elbow dislocation, unilateral	biolink:Disease	mondo	Orphanet:295225|ICD10:Q68.8	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017558		ORPHA:295225
MONDO:0017559	congenital elbow dislocation, bilateral	biolink:Disease	mondo	ICD10:Q68.8|Orphanet:295227	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017559		ORPHA:295227
MONDO:0017552	humero-ulnar synostosis, unilateral	biolink:Disease	mondo	ICD10:Q74.0|Orphanet:295213	ordo_clinical_subtype	humero-ulnar fusion, unilateral	http://purl.obolibrary.org/obo/MONDO_0017552		ORPHA:295213
MONDO:0017553	humero-ulnar synostosis, bilateral	biolink:Disease	mondo	ICD10:Q74.0|Orphanet:295215	ordo_clinical_subtype	humero-ulnar fusion, bilateral	http://purl.obolibrary.org/obo/MONDO_0017553		ORPHA:295215
MONDO:0017554	radio-ulnar synostosis, unilateral	biolink:Disease	mondo	ICD10:Q74.0|Orphanet:295217|UMLS:CN203290	ordo_clinical_subtype	radio-ulnar fusion, unilateral	http://purl.obolibrary.org/obo/MONDO_0017554		ORPHA:295217|UMLS:CN203290
MONDO:0017555	radio-ulnar synostosis, bilateral	biolink:Disease	mondo	Orphanet:295219|ICD10:Q74.0|UMLS:CN203291	ordo_clinical_subtype	radio-ulnar fusion, bilateral	http://purl.obolibrary.org/obo/MONDO_0017555		ORPHA:295219|UMLS:CN203291
MONDO:0017550	humero-radial synostosis, unilateral	biolink:Disease	mondo	Orphanet:295209|ICD10:Q74.0	ordo_clinical_subtype	humero-radial fusion, unilateral	http://purl.obolibrary.org/obo/MONDO_0017550		ORPHA:295209
MONDO:0017551	humero-radial synostosis, bilateral	biolink:Disease	mondo	ICD10:Q74.0|Orphanet:295211	ordo_clinical_subtype	humero-radial fusion, bilateral	http://purl.obolibrary.org/obo/MONDO_0017551		ORPHA:295211
HGNC:15492	ANKH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15492		
MONDO:0005578	arthritis	biolink:Disease	mondo	EFO:0005856|SCTID:3723001|ICD10:M19.90|UMLS:C0003864|NCIT:C2883|MESH:D001168|DOID:848|Wikipedia:Arthritis|COHD:4291025		inflammatory disorder of joint|skeletal joint inflammation|inflammation of skeletal joint|arthritis	http://purl.obolibrary.org/obo/MONDO_0005578	An inflammatory process affecting a joint. Causes include infection, autoimmune processes, degenerative processes, and trauma. Signs and symptoms may include swelling around the affected joint and pain.	MESH:D001168|NCIT:C2883|DOID:848|SNOMEDCT:3723001|UMLS:C0003864
MONDO:0005577	obsolete narcolepsy without cataplexy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005577		
MONDO:0005579	epilepsy, idiopathic generalized	biolink:Disease	mondo	OMIMPS:600669|SCTID:19598007|NCIT:C3021|MESH:D004829|EFO:0005917|DOID:1827		generalized epilepsy|idiopathic generalized epilepsy|generalised epilepsy|EIG|epilepsy, idiopathic generalized|epilepsy, idiopathic generalized; EIG	http://purl.obolibrary.org/obo/MONDO_0005579	A chronic condition characterised by recurrent generalised seizures.	NCIT:C3021|DOID:1827|SNOMEDCT:19598007|MESH:D004829
MONDO:0005574	tauopathy	biolink:Disease	mondo	UMLS:C0949664|MESH:D024801|DOID:680|EFO:0005815			http://purl.obolibrary.org/obo/MONDO_0005574	Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (tau proteins) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with alzheimer disease; dementia; parkinsonian disorders; progressive supranuclear palsy (supranuclear palsy, progressive); and corticobasal degeneration.	DOID:680|MESH:D024801|UMLS:C0949664
MONDO:0005573	obsolete type II hypersensitivity reaction disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005573		
CHEBI:35703	xenobiotic	biolink:ChemicalSubstance	mondo			xenobiotic compounds|Xenobiotic|xenobiotic|xenobiotics	http://purl.obolibrary.org/obo/CHEBI_35703	A xenobiotic (Greek, xenos "foreign"; bios "life") is a compound that is foreign to a living organism. Principal xenobiotics include: drugs, carcinogens and various compounds that have been introduced into the environment by artificial means.	
MONDO:0005576	cryoglobulinemia	biolink:Disease	mondo	UMLS:C0010403|ICD10:D89.1|ICD9:273.2|GARD:0006217|SCTID:30911005|COHD:4149583|MESH:D003449|NCIT:C26736|DOID:2917|EFO:0005846	gard_rare	cryoglobulinemia|Cryoimmunoglobulinaemia	http://purl.obolibrary.org/obo/MONDO_0005576	Cryoglobulinemia is a type of vasculitis that is caused by abnormal proteins (antibodies) in the blood called 'cryoglobulins.' At cold temperatures, these proteins become solid or gel-like, which can block blood vessels and cause a variety of health problems. Many people affected by this condition will not experience any unusual signs or symptoms. When present, symptoms vary but may include breathing problems; fatigue; glomerulonephritis ; joint or muscle pain; purpura ; Raynaud's phenomenon ; skin death; and/or skin ulcers. In some cases, the exact underlying cause is unknown; however, cryoglobulinemia can be associated with a variety of conditions including certain types of infection; chronic inflammatory diseases (such as autoimmune disease); and/or cancers of the blood or immune system. Treatment varies based on the severity of the condition, the symptoms present in each person and the underlying cause.	UMLS:C0010403|DOID:2917|SNOMEDCT:30911005|NCIT:C26736|MESH:D003449
CHEBI:35705	immunosuppressive agent	biolink:ChemicalSubstance	mondo			inmunosupresor|immunosuppressive agents|immunosuppressant	http://purl.obolibrary.org/obo/CHEBI_35705	An agent that suppresses immune function by one of several mechanisms of action. Classical cytotoxic immunosuppressants act by inhibiting DNA synthesis. Others may act through activation of T-cells or by inhibiting the activation of helper cells. In addition, an immunosuppressive agent is a role played by a compound which is exhibited by a capability to diminish the extent and/or voracity of an immune response.	
MONDO:0005575	colorectal cancer	biolink:Disease	mondo	OMIM:114500|SCTID:363510005|UMLS:C1527249|EFO:0005842|DOID:9256|DOID:5672|ICD10:C18.9|KEGG:05210|NCIT:C4978	clingen	malignant colorectal tumor|malignant tumor of the large intestine|colorectal cancer; CRC|malignant tumor of large intestine|malignant large bowel neoplasm|malignant neoplasm of the large bowel|CRC|malignant neoplasm of large bowel|cancer of colorectum|cancer of large intestine|malignant large bowel tumor|malignant colorectal neoplasm|large intestine cancer|malignant tumor of the large bowel|colorectum cancer|malignant tumor of large bowel|malignant large intestine neoplasm|malignant neoplasm of the large intestine|cancer of the large bowel|malignant neoplasm of large intestine|colon cancer|colorectal cancer|malignant neoplasm of colorectum|malignant large intestine tumor|cancer of large bowel|malignant colorectum neoplasm	http://purl.obolibrary.org/obo/MONDO_0005575	A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma.	DOID:5672|DOID:9256|SNOMEDCT:363510005|UMLS:C1527249|NCIT:C4978|http://identifiers.org/omim/114500
MONDO:0005570	hematologic disease	biolink:Disease	mondo	SCTID:414022008|ICD10:D75.9|ICD9:289.8|Orphanet:97992|ICD9:280-289.99|UMLS:CN882913|UMLS:C0018939|GTR:AN1320635|UMLS:CN206939|DOID:74|EFO:0005803|ICD9:289.9|NCIT:C26323|MESH:D006402	ordo_group_of_disorders|obsoletion_candidate	hematological system disease|hematopoietic system disease or disorder|disorder of hematopoietic system|hematological disease|rare hematologic disease|disease or disorder of hematopoietic system|disorder of hematopoietic system|hematological disorder|hematological disorders and malignancies|hematologic disorder|blood disorder|hematopoietic system disease|disease of the blood and blood-forming organs|blood disease|disease of hematopoietic system|hematopoietic disease|blood dyscrasia|hematologic and lymphocytic disorder|blood dyscrasia NOS	http://purl.obolibrary.org/obo/MONDO_0005570	A disease involving the hematopoietic system.	ORPHA:97992|MESH:D006402|UMLS:CN206939|NCIT:C26323|UMLS:C0018939|DOID:74|UMLS:CN882913|SNOMEDCT:414022008
MONDO:0005572	polycythemia due to hypoxia	biolink:Disease	mondo	UMLS:C0856818|NCIT:C27312|EFO:0005805|DOID:2835			http://purl.obolibrary.org/obo/MONDO_0005572	Polycythemia resulting from hypoxia.	UMLS:C0856818|NCIT:C27312|DOID:2835
MONDO:0005571	polycythemia (disease)	biolink:Disease	mondo	UMLS:C0032461|MESH:D011086|NCIT:C26863|MedDRA:10036051|ICD10:D75.1|EFO:0005804|DOID:8432|Orphanet:98427|HP:0001901	ordo_group_of_disorders	polycythemia|erythrocythemia	http://purl.obolibrary.org/obo/MONDO_0005571	Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume.	MESH:D011086|DOID:8432|NCIT:C26863|MEDDRA:10036051|UMLS:C0032461|ORPHA:98427
MONDO:0017549	humero-radio-ulnar synostosis, bilateral	biolink:Disease	mondo	ICD10:Q74.0|Orphanet:295207	ordo_clinical_subtype	humero-radio-ulnar fusion, bilateral	http://purl.obolibrary.org/obo/MONDO_0017549		ORPHA:295207
MONDO:0017545	zygodactyly type 4	biolink:Disease	mondo	UMLS:CN203277|Orphanet:295193|ICD10:Q70.3	ordo_clinical_subtype	SD1, Castilla type|Zygodactyly, Castilla type|syndactyly type 1d|SD1d|syndactyly type 1, Castilla type	http://purl.obolibrary.org/obo/MONDO_0017545		ORPHA:295193|UMLS:CN203277
MONDO:0017546	congenital vertical talus, unilateral	biolink:Disease	mondo	Orphanet:295201|ICD10:Q66.8	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017546		ORPHA:295201
MONDO:0017547	congenital vertical talus, bilateral	biolink:Disease	mondo	Orphanet:295203|ICD10:Q66.8	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017547		ORPHA:295203
MONDO:0017548	humero-radio-ulnar synostosis, unilateral	biolink:Disease	mondo	Orphanet:295205|ICD10:Q74.0	ordo_clinical_subtype	humero-radio-ulnar fusion, unilateral	http://purl.obolibrary.org/obo/MONDO_0017548		ORPHA:295205
CHEBI:35701	ester	biolink:ChemicalSubstance	mondo			esters|Ester	http://purl.obolibrary.org/obo/CHEBI_35701	A compound formally derived from an oxoacid RkE(=O)l(OH)m (l > 0) and an alcohol, phenol, heteroarenol, or enol by linking with formal loss of water from an acidic hydroxy group of the former and a hydroxy group of the latter.	
MONDO:0017541	obsolete central polydactyly of toes, unilateral	biolink:Disease	mondo	ICD10:Q69.2|Orphanet:295183		mesoaxial polydactyly of toes, unilateral|mirror foot, unilateral	http://purl.obolibrary.org/obo/MONDO_0017541		ORPHA:295183
MONDO:0017542	obsolete central polydactyly of toes, bilateral	biolink:Disease	mondo	Orphanet:295185|ICD10:Q69.2		mesoaxial polydactyly of toes, bilateral|mirror foot, bilateral	http://purl.obolibrary.org/obo/MONDO_0017542		ORPHA:295185
MONDO:0017543	zygodactyly type 2	biolink:Disease	mondo	Orphanet:295189|ICD10:Q70.3|ICD10:Q70.2|UMLS:CN203275|ICD10:Q70.1|ICD10:Q70.0	ordo_clinical_subtype	syndactyly type 1b|syndactyly type 1, Lueken type|SD1b|SD1, Lueken type|Zygodactyly, Lueken type	http://purl.obolibrary.org/obo/MONDO_0017543		ORPHA:295189|UMLS:CN203275
MONDO:0017544	zygodactyly type 3	biolink:Disease	mondo	ICD10:Q70.2|ICD10:Q70.1|ICD10:Q70.0|UMLS:CN203276|Orphanet:295191|ICD10:Q70.3	ordo_clinical_subtype	Zygodactyly, Montagu type|syndactyly type 1c|SD1, Montagu type|SD1c|syndactyly type 1, Montagu type	http://purl.obolibrary.org/obo/MONDO_0017544		ORPHA:295191|UMLS:CN203276
NCBITaxon:10780	Parvoviridae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_10780		
MONDO:0017540	obsolete postaxial polydactyly of toes, bilateral	biolink:Disease	mondo	ICD10:Q69.2|Orphanet:295181			http://purl.obolibrary.org/obo/MONDO_0017540		ORPHA:295181
MONDO:0005549	renal cell adenocarcinoma	biolink:Disease	mondo	NCIT:C9385|EFO:0005708|ICDO:8312/3|ICDO:8311/1		renal cell carcinoma, stage unspecified|renal cell cancer|adenocarcinoma of kidney|adenocarcinoma of the kidney|kidney adenocarcinoma|renal cell adenocarcinoma|carcinoma, renal cell, malignant|renal cell carcinoma, NOS|renal cell carcinoma|RCC	http://purl.obolibrary.org/obo/MONDO_0005549	A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy.	NCIT:C9385
MONDO:0005548	obsolete malignant rhabdoid tumour	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005548		
MONDO:0005545	staphylococcus aureus infection	biolink:Disease	mondo	EFO:0005681|NCIT:C122576|SCTID:406602003			http://purl.obolibrary.org/obo/MONDO_0005545	An infectious process in which the bacteria Staphylococcus aureus is present.	NCIT:C122576|SNOMEDCT:406602003
MONDO:0005544	hippocampal sclerosis of aging	biolink:Disease	mondo	EFO:0005678			http://purl.obolibrary.org/obo/MONDO_0005544	Age-related neuropathological condition with severe neuronal cell loss and gliosis in the hippocampus	
MONDO:0005547	desmoplastic medulloblastoma	biolink:Disease	mondo	EFO:0005699			http://purl.obolibrary.org/obo/MONDO_0005547	A medulloblastoma characterized by the presence of nodular, collagenous areas which do not contain reticulin, surrounded by hypercellular areas which contain an intercellular reticulin fiber network.	
MONDO:0005546	fibromyalgia	biolink:Disease	mondo	UMLS:C0016053|ICD10:M79.1|ICD10:M79.7|ICD9:729.1|SCTID:203082005|DOID:631|NCIT:C87497|GARD:0012069|EFO:0005687|MESH:D005356		fibromyalgia|fibromyalgia syndrome	http://purl.obolibrary.org/obo/MONDO_0005546	A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation.	DOID:631|NCIT:C87497|SNOMEDCT:203082005|MESH:D005356|UMLS:C0016053
MONDO:0005541	spondylolysis (disease)	biolink:Disease	mondo	EFO:0005649|SCTID_2010_1_31:240221008|ICD10:M43.00|SCTID:240221008|MESH:D013169|UMLS:C0038018|HP:0003304|NCIT:C35034|ICD10:M43.0|DOID:2300		spondylolysis	http://purl.obolibrary.org/obo/MONDO_0005541	A defect in the pars interarticularis of a vertebral bone.	NCIT:C35034|UMLS:C0038018|MESH:D013169|SNOMEDCT:240221008|DOID:2300
MONDO:0005540	obsolete rectal adenocarcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005540		
MONDO:0005543	autoimmune hepatitis type 1	biolink:Disease	mondo	SCTID:721711009|SCTID:197284004|Orphanet:563576|ICD9:571.49		autoimmune hepatitis type 1|type 1 AIH	http://purl.obolibrary.org/obo/MONDO_0005543	Autoimmune hepatitis characterized by the presence of antinuclear antibody (ANA) and antismooth-muscle antibody (ASMA).	ORPHA:563576|SNOMEDCT:197284004|SNOMEDCT:721711009
MONDO:0005542	acute coronary syndrome	biolink:Disease	mondo	SCTID:394659003|NCIT:C53652|MESH:D054058|EFO:0005672|UMLS:C0948089		syndrome, acute coronary|coronary syndrome, acute|acute coronary syndromes|coronary syndromes, acute|acute coronary syndrome|syndromes, acute coronary	http://purl.obolibrary.org/obo/MONDO_0005542	Signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction.	UMLS:C0948089|NCIT:C53652|SNOMEDCT:394659003|MESH:D054058
MONDO:0017538	Preaxial polydactyly of toes, bilateral	biolink:Disease	mondo	Orphanet:295177|ICD10:Q69.2	ordo_clinical_subtype	bifid hallux, bilateral|bifid great toes, bilateral|bifid halluces, bilateral	http://purl.obolibrary.org/obo/MONDO_0017538		ORPHA:295177
MONDO:0017539	obsolete postaxial polydactyly of toes, unilateral	biolink:Disease	mondo	ICD10:Q69.2|Orphanet:295179			http://purl.obolibrary.org/obo/MONDO_0017539		ORPHA:295179
NCBITaxon:333774	unclassified Papillomaviridae	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_333774		
MONDO:0017534	postaxial polydactyly type B, bilateral	biolink:Disease	mondo	ICD10:Q69.0|Orphanet:295169|UMLS:CN203265	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017534		UMLS:CN203265|ORPHA:295169
GO:0032092	positive regulation of protein binding	biolink:OntologyClass	mondo			up-regulation of protein binding|up regulation of protein binding|activation of protein binding|stimulation of protein binding|upregulation of protein binding	http://purl.obolibrary.org/obo/GO_0032092	Any process that activates or increases the frequency, rate or extent of protein binding.	
GO:0032091	negative regulation of protein binding	biolink:OntologyClass	mondo			inhibition of protein binding|downregulation of protein binding|down-regulation of protein binding|down regulation of protein binding	http://purl.obolibrary.org/obo/GO_0032091	Any process that stops, prevents, or reduces the frequency, rate or extent of protein binding.	
MONDO:0017535	central polydactyly of fingers, unilateral	biolink:Disease	mondo	ICD10:Q69.0|Orphanet:295171	ordo_clinical_subtype	mirror hand, unilateral|mesoaxial polydactyly of fingers, unilateral	http://purl.obolibrary.org/obo/MONDO_0017535		ORPHA:295171
HGNC:15469	DNAJC6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15469		
MONDO:0017536	central polydactyly of fingers, bilateral	biolink:Disease	mondo	Orphanet:295173|ICD10:Q69.0	ordo_clinical_subtype	mesoaxial polydactyly of fingers, bilateral|mirror hand, bilateral	http://purl.obolibrary.org/obo/MONDO_0017536		ORPHA:295173
MONDO:0017537	Preaxial polydactyly of toes, unilateral	biolink:Disease	mondo	Orphanet:295175|ICD10:Q69.2	ordo_clinical_subtype	bifid halluces, unilateral|bifid great toes, unilateral|bifid hallux, unilateral	http://purl.obolibrary.org/obo/MONDO_0017537		ORPHA:295175
MONDO:0017530	polysyndactyly, bilateral	biolink:Disease	mondo	Orphanet:295161|UMLS:CN203261|ICD10:Q70.4	ordo_clinical_subtype	preaxial polydactyly type 4, bilateral	http://purl.obolibrary.org/obo/MONDO_0017530		ORPHA:295161|UMLS:CN203261
HGNC:15464	SPINK5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15464		
HGNC:15465	GPHN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15465		
MONDO:0017531	postaxial polydactyly type A, unilateral	biolink:Disease	mondo	Orphanet:295163|ICD10:Q69.0|UMLS:CN203262	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017531		ORPHA:295163|UMLS:CN203262
MONDO:0017532	postaxial polydactyly type A, bilateral	biolink:Disease	mondo	Orphanet:295165|UMLS:CN203263|ICD10:Q69.0	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017532		ORPHA:295165|UMLS:CN203263
MONDO:0017533	postaxial polydactyly type B, unilateral	biolink:Disease	mondo	ICD10:Q69.0|Orphanet:295167|UMLS:CN203264	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017533		ORPHA:295167|UMLS:CN203264
HGNC:39433	PRSS56	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/39433		
UBERON:0014393	sweat of axilla	biolink:AnatomicalEntity	mondo			axillary sweat	http://purl.obolibrary.org/obo/UBERON_0014393	Sweat that is produced by the glands of the axilla.	
MONDO:0005559	neurodegenerative disease	biolink:Disease	mondo	SCTID:80690008|MESH:D019636|DOID:1289|ICD9:349.89|ICD10:G31.9|EFO:0005772|NCIT:C4802	merged_class	degenerative disorder of central nervous system|central nervous system neurodegenerative disorder|degenerative disease|neurodegenerative disease|brain degeneration|cerebral degeneration disease|central nervous system degenerative disorder	http://purl.obolibrary.org/obo/MONDO_0005559	A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function.	NCIT:C4802|SNOMEDCT:80690008|MESH:D019636|DOID:1289
UBERON:0014394	uterine fat pad	biolink:AnatomicalEntity	mondo			uterine fat depot|periuterine fat pad|peri-uterine fat pad	http://purl.obolibrary.org/obo/UBERON_0014394	Encapsulated adipose tissue associated with the uterus	
UBERON:0014395	proximal mesopodial bone	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0014395	A proximal mesopodial endochondral element that is composed primarily of a bone tissue.	
MONDO:0005556	lupus nephritis	biolink:Disease	mondo	SCTID:68815009|UMLS:C0024143|DOID:0080162|EFO:0005761|MESH:D008181|NCIT:C34789|GARD:0010747	gard_rare	Glomerulonephritides, lupus|glomerulonephritis, lupus|lupus glomerulonephritis|lupus nephritis|lupus Nephritides|Nephritides, lupus|lupus Glomerulonephritides|nephritis, lupus|SLE nephritis	http://purl.obolibrary.org/obo/MONDO_0005556	Glomerulonephritis in the context of systemic lupus erythematosus.	DOID:0080162|MESH:D008181|SNOMEDCT:68815009|NCIT:C34789|UMLS:C0024143
MONDO:0005555	cycloplegia	biolink:Disease	mondo	EFO:0005758|DOID:10033|SCTID_2010_1_31:232141000|SCTID_2010_1_31:255335004|Wikipedia:Cycloplegia|SCTID:68158006|ICD10:H52.52|ICD9:367.51|SCTID_2010_1_31:68158006|UMLS:C0235238		cycloplegia|accommodative paresis|cycloplegic paralysis of accommodation|paralysis of accommodation|paresis of accommodation|loss of accommodation|visual accommodation paralysis|ciliary muscle paresis	http://purl.obolibrary.org/obo/MONDO_0005555	Cycloplegia is paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation.	UMLS:C0235238|SNOMEDCT:68158006|DOID:10033
UBERON:0014390	muscle layer of ileum	biolink:AnatomicalEntity	mondo			ileal smooth muscle|muscularis propria of ileum|smooth muscle of ileum|muscularis externa of ileum	http://purl.obolibrary.org/obo/UBERON_0014390	A muscular coat that is part of a ileum.	
UBERON:0014391	palmar/plantar sweat gland	biolink:AnatomicalEntity	mondo			palmar/plantar eccrine sweat gland|sweat gland of palmar part of manus|sweat gland of palmar/plant part of autopod|palm/sole sweat gland|palmar eccrine sweat gland|palm sweat gland	http://purl.obolibrary.org/obo/UBERON_0014391	A sweat gland that is part of the skin of the palmar part of the manus or plantar part of the pes	
MONDO:0005558	ovarian disease	biolink:Disease	mondo	NCIT:C26841|UMLS:C0029928|DOID:1100|MESH:D010049|EFO:0005771|SCTID:5552004		disorder of ovary|ovarian disease|disorder of ovary|ovary disease|disease or disorder of ovary|ovarian disorder|disease of ovary|ovary disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005558	A disease involving the ovary.	NCIT:C26841|SNOMEDCT:5552004|UMLS:C0029928|MESH:D010049|DOID:1100
MONDO:0005557	calcium metabolic disease	biolink:Disease	mondo	SCTID_2010_1_31:190874007|ICD9:275.4|MESH:D002128|SCTID_2010_1_31:71638002|SCTID:71638002|SCTID_2010_1_31:190863003|EFO:0005769|ICD9:275.40|SCTID_2010_1_31:267442002|ICD10:E83.50|DOID:10575|ICD9:275.49|UMLS:C0006705|ICD10:E83.5		calcium metabolism disease|disorder of calcium metabolism|calcium metabolism disorder	http://purl.obolibrary.org/obo/MONDO_0005557	Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization.	DOID:10575|MESH:D002128|SNOMEDCT:71638002|UMLS:C0006705
UBERON:0014392	sweat of palm	biolink:AnatomicalEntity	mondo			palmar sweat|palm sweat	http://purl.obolibrary.org/obo/UBERON_0014392	Sweat that is produced by the glands on the palmar and plantar surfaces.	
MONDO:0005552	ocular vascular disease	biolink:Disease	mondo	EFO:0005753|NCIT:C35664		vasculature of eye disease|ocular vascular disorder|vasculature of eye disease or disorder|disorder of vasculature of eye|disorder of vasculature of eye|disease or disorder of vasculature of eye|disease of vasculature of eye	http://purl.obolibrary.org/obo/MONDO_0005552	A disorder that is caused by pathologic changes in the ocular vasculature.	NCIT:C35664
MONDO:0005551	eye allergy	biolink:Disease	mondo	EFO:0005751			http://purl.obolibrary.org/obo/MONDO_0005551	An allergic disease involving a pathogenic inflammatory response in the camera-type eye.	
MONDO:0005554	rheumatologic disorder	biolink:Disease	mondo	DOID:1575|SCTID:396332003|NCIT:C27204|EFO:0005755|ICD9:729.0|UMLS:C0035435|Wikipedia:Rheumatism|MESH:D012216		rheumatism|disease, rheumatic|inflammatory rheumatism|rheumatologic disorder|enthesopathy|enthesopathies|collagen disease|rheumatic disease|diseases, rheumatic|collagen vascular disease|musculoskeletal pain disorder|connective tissue disease	http://purl.obolibrary.org/obo/MONDO_0005554	Inflammatory and degenerative diseases of connective tissue structures, such as arthritis.	MESH:D012216|SNOMEDCT:396332003|NCIT:C27204|UMLS:C0035435|DOID:1575
MONDO:0005553	obsolete parathyroid disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005553		
MONDO:0005550	infectious disease	biolink:Disease	mondo	ICD9:079.0|SCTID:40733004|IDO:0000436|ICD9:136.9|ICD9:136.8|EFO:0005741|MESH:D003141|ICD10:A00.B99|NCIT:C26726|DOID:0050117		infectious|transmissible disease|infectious diseases and manifestations|infectious disorder|infectious disease|clinical infection|ID|disease by infectious agent|communicable disease|infection	http://purl.obolibrary.org/obo/MONDO_0005550	A disorder resulting from the presence and activity of a microbial, viral, or parasitic agent. It can be transmitted by direct or indirect contact.	DOID:0050117|SNOMEDCT:40733004|NCIT:C26726|MESH:D003141
UBERON:0014399	sinusoidal space	biolink:AnatomicalEntity	mondo			sinusoid lumen|lumen of sinusoid	http://purl.obolibrary.org/obo/UBERON_0014399	A anatomical space that is enclosed by a sinusoid.	
MONDO:0017527	polydactyly of an index finger, unilateral	biolink:Disease	mondo	ICD10:Q69.0|UMLS:CN203258|Orphanet:295152	ordo_clinical_subtype	preaxial polydactyly type 3, unilateral	http://purl.obolibrary.org/obo/MONDO_0017527		UMLS:CN203258|ORPHA:295152
MONDO:0017528	polydactyly of an index finger, bilateral	biolink:Disease	mondo	ICD10:Q69.0|UMLS:CN203259|Orphanet:295154	ordo_clinical_subtype	preaxial polydactyly type 3, bilateral	http://purl.obolibrary.org/obo/MONDO_0017528		UMLS:CN203259|ORPHA:295154
MONDO:0017529	polysyndactyly, unilateral	biolink:Disease	mondo	UMLS:CN203260|Orphanet:295159|ICD10:Q70.4	ordo_clinical_subtype	preaxial polydactyly type 4, unilateral	http://purl.obolibrary.org/obo/MONDO_0017529		UMLS:CN203260|ORPHA:295159
MONDO:0017523	polydactyly of a biphalangeal thumb, unilateral	biolink:Disease	mondo	ICD10:Q69.1|Orphanet:295144|UMLS:CN203254	ordo_clinical_subtype	preaxial polydactyly type 1, unilateral	http://purl.obolibrary.org/obo/MONDO_0017523		UMLS:CN203254|ORPHA:295144
MONDO:0017524	polydactyly of a biphalangeal thumb, bilateral	biolink:Disease	mondo	ICD10:Q69.1|Orphanet:295146|UMLS:CN203255	ordo_clinical_subtype	preaxial polydactyly type 1, bilateral	http://purl.obolibrary.org/obo/MONDO_0017524		UMLS:CN203255|ORPHA:295146
MONDO:0017525	polydactyly of a triphalangeal thumb, unilateral	biolink:Disease	mondo	Orphanet:295148|ICD10:Q69.1|UMLS:CN203256	ordo_clinical_subtype	preaxial polydactyly type 2, unilateral|unilateral PPD2	http://purl.obolibrary.org/obo/MONDO_0017525		UMLS:CN203256|ORPHA:295148
MONDO:0017526	polydactyly of a triphalangeal thumb, bilateral	biolink:Disease	mondo	UMLS:CN203257|ICD10:Q69.1|Orphanet:295150	ordo_clinical_subtype	preaxial polydactyly type 2, bilateral|bilateral PPD2	http://purl.obolibrary.org/obo/MONDO_0017526		UMLS:CN203257|ORPHA:295150
FOODON:00003203	food harvesting	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00003203	A process which takes in some food material from an individual or community of plant or animal organisms in a given context and time, and outputs a precursor or consumable food product. This may include a part of an organism or the whole, and may involve killing the organism.	
MONDO:0017520	symbrachydactyly of hand and foot, bilateral	biolink:Disease	mondo	Orphanet:295138|ICD10:Q73.8|UMLS:CN203253	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017520		UMLS:CN203253|ORPHA:295138
MONDO:0017521	hyperphalangy, unilateral	biolink:Disease	mondo	ICD10:Q74.8|Orphanet:295140	ordo_clinical_subtype	supernumerary phalanx, unilateral|supernumerary phalanges, unilateral|hyperphalangy in digits 2-5	http://purl.obolibrary.org/obo/MONDO_0017521		ORPHA:295140
MONDO:0017522	hyperphalangy, bilateral	biolink:Disease	mondo	Orphanet:295142|ICD10:Q74.8	ordo_clinical_subtype	supernumerary phalanges, bilateral|supernumerary phalanx, bilateral	http://purl.obolibrary.org/obo/MONDO_0017522		ORPHA:295142
MONDO:0017590	carcinoma of the ampulla of vater	biolink:Disease	mondo	SCTID:254609000|ICD10:C24.1|NCIT:C3908|MedDRA:10048853|UMLS:C0262401|DOID:4932|EFO:1000079|Orphanet:300557|ONCOTREE:AMPCA	ordo_disease	AMPCA|ampullary cancer|carcinoma of hepatopancreatic ampulla|hepatopancreatic ampulla carcinoma|ampullary carcinoma|ampulla of Vater carcinoma|carcinoma of ampulla of vater|ampulla of Vater cancer|Ampulloma	http://purl.obolibrary.org/obo/MONDO_0017590	A carcinoma arising from the ampulla of Vater. The vast majority of cases are adenocarcinomas. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss.	ORPHA:300557|SNOMEDCT:254609000|NCIT:C3908|MEDDRA:10048853|DOID:4932|UMLS:C0262401
MONDO:0017591	combined pulmonary fibrosis-emphysema syndrome	biolink:Disease	mondo	ICD10:J84.1|UMLS:CN203401|Orphanet:300564	ordo_disease	CPFE	http://purl.obolibrary.org/obo/MONDO_0017591		ORPHA:300564|UMLS:CN203401
ENVO:3100011	concentration of dioxygen in liquid water	biolink:OntologyClass	mondo			liquid water dioxygen concentration	http://purl.obolibrary.org/obo/ENVO_3100011	The concentration of dioxygen when measured in liquid water.	
HGNC:27424	RBM20	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/27424		
HGNC:15446	PRPF31	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15446		
MONDO:0017596	diffuse large B-cell lymphoma of the central nervous system	biolink:Disease	mondo	SCTID:734066005|UMLS:C2026186|Orphanet:300849|ICD10:C83.3|ICDO:9680/3|NCIT:C71720	ordo_disease	diffuse large B-cell lymphoma of central nervous system|primary DLBCL of the CNS|CNS DLBCL|central nervous system diffuse large B-cell lymphoma|DLBCL of the CNS|primary diffuse large B-cell lymphoma of the central nervous system	http://purl.obolibrary.org/obo/MONDO_0017596	A diffuse large B-cell lymphoma arising from the central nervous system.	ORPHA:300849|NCIT:C71720|UMLS:C2026186|SNOMEDCT:734066005
MONDO:0017597	T-cell/histiocyte rich large B cell lymphoma	biolink:Disease	mondo	NCIT:C9496|UMLS:C1321547|ICDO:9688/3|ONCOTREE:THRLBCL|Orphanet:300857|GARD:0012257|ICDO:9680/3|ICD10:C83.3	gard_rare|ordo_disease	T-cell rich/histiocyte-rich large B-cell lymphoma|T-cell/histiocyte rich lymphoma|THRLBCL|T-cell/histiocyte-rich large B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0017597	T-cell/histiocyte rich large B cell lymphoma (THRLBCL) is a rare variant of diffuse large B-cell lymphoma (DLBCL), mainly affecting middle-aged men and often not being discovered until an advanced disease stage, with involvement of the spleen, liver and bone marrow occurring at a greater frequency than in DLBCL. It is often difficult to diagnose due to its similarity with other lymphoid diseases such as classic Hodgkin lymphoma and nodular lymphocyte-predominant Hodgkin lymphoma and has an aggressive clinical course.	ORPHA:300857|UMLS:C1321547|NCIT:C9496
MONDO:0017598	primary cutaneous anaplastic large cell lymphoma	biolink:Disease	mondo	UMLS:C1301362|ICD10:C86.6|MedDRA:10065863|MESH:D054446|ONCOTREE:PCALCL|Orphanet:300865|NCIT:C6860	ordo_disease	regressive atypical histiocytosis|ALCL, cutaneous|primary cutaneous CD30+ ALCL|C-ALCL|primary cutaneous CD30 Positive anaplastic large cell lymphoma|primary cutaneous CD30+ anaplastic large cell lymphoma|primary C-ALCL|anaplastic large-cell lymphoma, primary cutaneous type|primary anaplastic large cell lymphoma of skin|primary anaplastic large cell lymphoma of the skin	http://purl.obolibrary.org/obo/MONDO_0017598	Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a rare T-cell non-Hodgkin lymphoma that affects the skin and generally shows no extracutaneous involvement at presentation. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders along with lymphomatoid papulosis with which it shares overlapping clinical and histopathologic features.	UMLS:C1698767|NCIT:C6860|ORPHA:300865|MESH:D054446|MEDDRA:10065863|UMLS:C1301362
MONDO:0017599	splenic diffuse red pulp small B-cell lymphoma	biolink:Disease	mondo	ICD10:C83.0|NCIT:C80309|ONCOTREE:SDRPL|SCTID:763884007|Orphanet:300869|ICDO:9591/3|UMLS:C2699508	ordo_disease	splenic diffuse red pulp lymphoma|SDRPL	http://purl.obolibrary.org/obo/MONDO_0017599	Splenic diffuse red pulp small B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal proliferation of small, monomorphous, basophilic B-lymphocytes, with villous cytoplasm, in the splenic red pulp, bone marrow and peripheral blood. It typically presents in the late clinical stages with splenomegaly and moderate lymphocytosis. Cytopenias are rare and likely associated with hypersplenism.	UMLS:C2699508|ORPHA:300869|SNOMEDCT:763884007|NCIT:C80309
MONDO:0017592	staphylococcal toxemia	biolink:Disease	mondo	UMLS:C0854511|Orphanet:300579|MedDRA:10041932	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017592		ORPHA:300579|MEDDRA:10041932|UMLS:C0854511
MONDO:0017593	juvenile amyotrophic lateral sclerosis	biolink:Disease	mondo	UMLS:CN239582|ICD10:G12.2|GARD:0011901|Orphanet:300605|UMLS:C3468114|SCTID:718555006	gard_rare|ordo_disease	juvenile Lou Gehrig disease|JALS|juvenile Charcot disease|amyotrophic lateral sclerosis, juvenile	http://purl.obolibrary.org/obo/MONDO_0017593	Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age.	SNOMEDCT:718555006|ORPHA:300605|UMLS:C3468114|UMLS:CN239582
MONDO:0017594	indolent B-cell non-Hodgkin lymphoma	biolink:Disease	mondo	GARD:0010482|NCIT:C171299|Orphanet:300842	gard_rare|ordo_group_of_disorders	B cell lymphoma, indolent|indolent B cell lymphoma|indolent B-cell NHL	http://purl.obolibrary.org/obo/MONDO_0017594		NCIT:C171299|ORPHA:300842
GO:0019098	reproductive behavior	biolink:OntologyClass	mondo			reproductive behavior in a multicellular organism|multicellular organism reproductive behavior|reproductive behaviour|single-organism reproductive behavior	http://purl.obolibrary.org/obo/GO_0019098	The specific behavior of an organism that is associated with reproduction.	
MONDO:0017595	aggressive B-cell non-Hodgkin lymphoma	biolink:Disease	mondo	Orphanet:300846	ordo_group_of_disorders	aggressive B-cell NHL	http://purl.obolibrary.org/obo/MONDO_0017595		ORPHA:300846
MONDO:0017580	11p15.4 microduplication syndrome	biolink:Disease	mondo	Orphanet:300305|ICD10:Q92.3|UMLS:CN203376	ordo_malformation_syndrome	trisomy 11p15.4|dup(11)p(15.4)	http://purl.obolibrary.org/obo/MONDO_0017580	11p15.4 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities.	ORPHA:300305|UMLS:CN203376
GO:0032060	bleb assembly	biolink:OntologyClass	mondo			membrane blebbing|plasma membrane blebbing|cell blebbing|plasma membrane bleb assembly|blebbing	http://purl.obolibrary.org/obo/GO_0032060	The assembly of a bleb, a cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Plasma membrane blebbing occurs during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses.	
MONDO:0017589	follicular cholangitis and pancreatitis	biolink:Disease	mondo	Orphanet:300552	ordo_disease	follicular pancreatocholangitis	http://purl.obolibrary.org/obo/MONDO_0017589	Follicular cholangitis and pancreatitis is a rare pancreatobiliary disease characterized by marked duct-centered lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphpoid follicles around the affected bile and pancreatic ducts.	ORPHA:300552
UBERON:0026386	lumbar spinal cord white matter	biolink:AnatomicalEntity	mondo			lumbar spinal cord white matter	http://purl.obolibrary.org/obo/UBERON_0026386		
HGNC:15459	P2RX2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15459		
MONDO:0017585	painful orbital and systemic neurofibromas-marfanoid habitus syndrome	biolink:Disease	mondo	UMLS:CN203391|GARD:0011006|Orphanet:300501	gard_rare|ordo_disease	multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus	http://purl.obolibrary.org/obo/MONDO_0017585		ORPHA:300501|UMLS:CN203391
MONDO:0017586	onychocytic matricoma	biolink:Disease	mondo	UMLS:CN203392|GARD:0011007|Orphanet:300504	gard_rare|ordo_disease	acanthoma of the nail matrix	http://purl.obolibrary.org/obo/MONDO_0017586	Onychocytic matricoma is a rare tumor of the nail that is generally benign. Affected people often experience thickening of the involved portion of the nail. The tumor may be pigmented (melanonychia - a black or brown pigmentation of the normal nail plate) or non-pigmented. The exact underlying cause of onychocytic matricoma is currently unknown. It generally occurs sporadically in people with no family history of the condition. Treatment generally consists of surgical excision.	ORPHA:300504|UMLS:CN203392
HGNC:15454	SHOC2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15454		
MONDO:0017587	onychomatricoma	biolink:Disease	mondo	UMLS:CN203393|Orphanet:300512	ordo_disease	neoplasm of nail matrix|nail matrix tumor|nail matrix neoplasm|tumor of nail matrix	http://purl.obolibrary.org/obo/MONDO_0017587	A neoplasm involving a UBERON:0002283.	ORPHA:300512|UMLS:CN203393
HGNC:15455	MBTPS2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15455		
MONDO:0017588	nail tumor	biolink:Disease	mondo	Orphanet:300515	ordo_group_of_disorders	nail neoplasm (disease)|neoplasm of nail|rare nail tumor|nail tumor|nail neoplasm|tumor of nail	http://purl.obolibrary.org/obo/MONDO_0017588	A neoplasm involving a nail.	ORPHA:300515
MONDO:0017581	familial infantile gigantism	biolink:Disease	mondo	UMLS:CN203384|Orphanet:300373|ICD10:E22.0	ordo_disease	hereditary infantile gigantism|X-LAG (X-linked acrogigantism)|infantile gigantism due to pituitary hyperplasia|hereditary pituitary hyperplasia	http://purl.obolibrary.org/obo/MONDO_0017581		ORPHA:300373|UMLS:CN203384
MONDO:0017582	pituitary adenocarcinoma (disease)	biolink:Disease	mondo	HP:0011763|UMLS:C0346300|Orphanet:300385|DOID:4916|SCTID:254955001|NCIT:C4536|ICDO:8272/3|ICD10:C75.1|ONCOTREE:PTCA	ordo_disease	pituitary gland cancer, NOS|PTCA|carcinoma of the pituitary gland|pituitary gland carcinoma|pituitary carcinoma|pituitary gland adenocarcinoma|cancer of the pituitary gland|carcinoma of pituitary gland|carcinoma of the pituitary|cancer of pituitary gland|carcinoma of pituitary|cancer of the pituitary|pituitary gland cancer|cancer of pituitary	http://purl.obolibrary.org/obo/MONDO_0017582	A rare adenocarcinoma with poor prognosis, arising from the adenohypophysial cells of the anterior lobe of the pituitary gland or pre-existing adenomas. The majority are hormonally functioning neoplasms, usually producing prolactin or ACTH. The diagnosis is based on the presence of metastases. Syndromes associated with pituitary gland carcinomas include hyperprolactinemia, Cushing disease, and acromegaly.	ORPHA:300385|NCIT:C4536|UMLS:C0346300|SNOMEDCT:254955001|DOID:4916
MONDO:0017583	mirror polydactyly-vertebral segmentation-limbs defects syndrome	biolink:Disease	mondo	UMLS:CN203387|ICD10:Q87.2|Orphanet:3004	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0017583	Mirror polydactyly-vertebral segmentation-limbs defects syndrome is characterised by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene.	UMLS:CN203387|ORPHA:3004
CHEBI:3992	cyclic ketone	biolink:ChemicalSubstance	mondo			cyclic ketones|Cyclic ketone	http://purl.obolibrary.org/obo/CHEBI_3992		
MONDO:0017584	Sagliker syndrome	biolink:Disease	mondo	Orphanet:300493|UMLS:CN203388	ordo_clinical_situation		http://purl.obolibrary.org/obo/MONDO_0017584	A rare bone disease that arises due to secondary hyperparathyroidism in patients with chronic renal failure receiving dialysis characterized by 'uglifying' the appearance of the face	ORPHA:300493|UMLS:CN203388
MONDO:0005589	thiopurine immunosuppressant-induced pancreatitis	biolink:Disease	mondo	EFO:0006315			http://purl.obolibrary.org/obo/MONDO_0005589	Pancreatits that is the result of treatment with thiopurine immunosuppressants such as azathioprine or mercaptopurine.	
MONDO:0005588	chemotherapy-induced oral mucositis	biolink:Disease	mondo	EFO:0006313			http://purl.obolibrary.org/obo/MONDO_0005588	Inflammation and ulceration of the oral mucosa as a result of chemotherapy treatment.	
NCBITaxon:10798	Human parvovirus B19	organism taxon	mondo	GC_ID:1		Parvovirus B19|Human erythrovirus B19|Erythrovirus B19|B19 virus	http://purl.obolibrary.org/obo/NCBITaxon_10798		
MONDO:0030502	tetrasomy	biolink:Disease	mondo	EFO:1001297|MESH:D058670|NCIT:C36601		tetrasomy	http://purl.obolibrary.org/obo/MONDO_0030502		MESH:D058670|NCIT:C36601
MONDO:0005585	chemotherapy-induced hypertension	biolink:Disease	mondo	EFO:0005942			http://purl.obolibrary.org/obo/MONDO_0005585	A form of hypertension that occurs as a direct result of chemotherapy treatment	
MONDO:0005584	congenital left-sided heart lesions	biolink:Disease	mondo	EFO:0005938			http://purl.obolibrary.org/obo/MONDO_0005584	Serious heritable structural anomalies of the left side of the heart, including hypoplastic left heart syndrome, aortic valve stenosis, coarctation of the aorta, mitral valve anomalies and bicuspid aortic valve, that are present from birth.	
ENVO:3100033	pressure of water	biolink:OntologyClass	mondo			water pressure	http://purl.obolibrary.org/obo/ENVO_3100033	The pressure of some water.	
MONDO:0005587	obsolete non-Hodgkins lymphoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005587		
MONDO:0005586	head and neck neoplasm	biolink:Disease	mondo	ICD9:239.89|EFO:0005950|SCTID:255055008|ONCOTREE:HEADNECK|UMLS:C0018671|NCIT:C3077		tumor of craniocervical region|craniocervical region neoplasm|tumor of the head and neck|head and neck neoplasm (excluding central nervous system)|tumor of head and neck|head and neck neoplasm|neoplasm of craniocervical region|craniocervical region neoplasm (disease)|craniocervical region tumor|neoplasm of the head and neck|neoplasm of head and neck|head and neck tumor	http://purl.obolibrary.org/obo/MONDO_0005586	A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma.	UMLS:C0018671|SNOMEDCT:255055008|NCIT:C3077
MONDO:0005581	AVL induced bursal lymphoma	biolink:Disease	mondo	EFO:0005923			http://purl.obolibrary.org/obo/MONDO_0005581	Malignant lymphoma of the bursa of Fabricius, induced by avian leukosis virus occuring in birds.	
MONDO:0005580	esophageal squamous cell carcinoma	biolink:Disease	mondo	ICD10:C15.0|DOID:3748|UMLS:C0279626|NCIT:C4024|SCTID:276804009|ONCOTREE:ESCC|ICD10:C15.4|EFO:0005922|ICD10:C15.3|MESH:C562729|Orphanet:99977|ICD10:C15.1	ordo_disease	squamous cell carcinoma of esophagus|scc of the esophagus|esophagus scc|esophageal epidermoid carcinoma|ESCC|squamous cell carcinoma of the esophagus|squamous cell car. - esophagus|esophagus squamous cell carcinoma|esophageal squamous cell carcinoma|esophageal squamous cell cancer|scc of esophagus|esophageal scc	http://purl.obolibrary.org/obo/MONDO_0005580	Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC) that can affect any part of the esophagus, but is usually located in the upper or middle third.	DOID:3748|NCIT:C4024|MESH:C562729|SNOMEDCT:276804009|UMLS:C0279626|ORPHA:99977
MONDO:0005583	non-human animal disease	biolink:Disease	mondo	MESH:D000820|UMLS:C0003047|EFO:0005932		animal disease|diseases, animal	http://purl.obolibrary.org/obo/MONDO_0005583	A disease that occurs in animals.	MESH:D000820|UMLS:C0003047
MONDO:0005582	binge eating disorder	biolink:Disease	mondo	MESH:D002032|SCTID:439960005|NCIT:C97162|EFO:0005924		binge eating disorder|binge eating	http://purl.obolibrary.org/obo/MONDO_0005582	Recurrent episodes of over-eating.	NCIT:C97162|MESH:D002032|SNOMEDCT:439960005
MONDO:0017578	disorder of thiamine metabolism and transport	biolink:Disease	mondo	UMLS:CN227150|Orphanet:298644	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017578		UMLS:CN227150|ORPHA:298644
MONDO:0017579	Baraitser-Winter cerebrofrontofacial syndrome	biolink:Disease	mondo	Orphanet:2995|ICD10:Q87.0|GARD:0005279|ICD9:759.89|SCTID:702410002|DOID:0060229|OMIMPS:243310	ordo_malformation_syndrome|gard_rare	Fryns-Aftimos syndrome|BRWS|Baraitser-winter syndrome|trigonocephaly ptosis intellectual disability|trigonocephaly ptosis coloboma|iris coloboma with ptosis hypertelorism and intellectual disability|cerebro-frontofacial syndrome, type 3|iris coloboma with ptosis hypertelorism and mental retardation|trigonocephaly ptosis mental retardation	http://purl.obolibrary.org/obo/MONDO_0017579	Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA)) corresponds to the appearance of BWS in elderly patients.	ORPHA:2995|DOID:0060229|SNOMEDCT:702410002
MONDO:0017574	chronic intestinal pseudoobstruction	biolink:Disease	mondo	SCTID:235828008|Orphanet:2978|ICD10:K59.8|GARD:0012744	ordo_clinical_syndrome|gard_rare	intestinal pseudo-obstruction, chronic|cipo|chronic intestinal pseudo-obstruction	http://purl.obolibrary.org/obo/MONDO_0017574	Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth.	UMLS:C0238062|SNOMEDCT:235828008|ORPHA:2978
MONDO:0017575	mitochondrial neurogastrointestinal encephalomyopathy	biolink:Disease	mondo	ICD10:G71.3|SCTID:718214007|MESH:C537477|GARD:0009920|Orphanet:298|NCIT:C119678	ordo_disease|gard_rare	polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction|mitochondrial neurogastrointestinal encephalopathy syndrome|thymidine phosphorylase deficiency|OGIMD|MNGIE syndrome|POLIP|Mitochondrial neurogastrointestinal encephalopathy|MNGIE|oculogastrointestinal muscular dystrophy|mitochondrial Neurogastrointestingal encephalopathy|Mitochondrial neurogastrointestinal encephalopathy|myoneurogastrointestinal encephalopathy syndrome	http://purl.obolibrary.org/obo/MONDO_0017575	Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.	SNOMEDCT:718214007|NCIT:C119678|MESH:C537477|ORPHA:298
MONDO:0017576	46,XX disorder of sex development	biolink:Disease	mondo	Orphanet:2982|ICD10:Q56.2|UMLS:CN776919|UMLS:C2936403|MESH:D058489|SCTID:8800006|NCIT:C127169	ordo_group_of_disorders	female pseudohermaphroditism|46,XX DSD|46,XX disorders of Sex development|46,XX differences of Sex development	http://purl.obolibrary.org/obo/MONDO_0017576	Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures.	NCIT:C127169|UMLS:CN776919|MESH:D058489|SNOMEDCT:8800006|UMLS:C2936403|ORPHA:2982
MONDO:0017577	spontaneous periodic hypothermia	biolink:Disease	mondo	ICD10:G90.8|GARD:0004815|Orphanet:29822|MESH:C537594|UMLS:C2931542	ordo_disease	spontaneous recurrent hypothermia syndrome|episodic spontaneous hypothermia|Shapiro's syndrome|recurrent spontaneous hypothermia with hypoplasia of the corpus callosum|Shapiro syndrome|spontaneous periodic hypothermia syndrome	http://purl.obolibrary.org/obo/MONDO_0017577	Spontaneous periodic hypothermia (SPH) is a neurological disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions.	MESH:C537594|UMLS:C2931542|ORPHA:29822
MONDO:0017570	leukocyte adhesion deficiency	biolink:Disease	mondo	UMLS:C0272187|Orphanet:2968|GARD:0009544|ICD10:D84.8|SCTID:77358003|NCIT:C27874|DOID:6612	ordo_disease|gard_rare	LAD|congenital leukocyte adherence deficiency	http://purl.obolibrary.org/obo/MONDO_0017570	Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections.	SNOMEDCT:77358003|MESH:D018370|NCIT:C27874|UMLS:C0272187|UMLS:C0242597|DOID:6612|ORPHA:2968
MONDO:0017571	Proteus-like syndrome	biolink:Disease	mondo	SCTID:716862002|GARD:0012801|Orphanet:2969|GARD:0004525|ICD10:Q87.3	ordo_disease|gard_rare	Proteus like syndrome mental retardation eye defect|Proteus like syndrome intellectual disability eye defect|Cohen-Hayden syndrome	http://purl.obolibrary.org/obo/MONDO_0017571	Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease.	UMLS:C1866398|ORPHA:2969|SNOMEDCT:716862002
MONDO:0017572	tick-borne encephalitis	biolink:Disease	mondo	GARD:0005216|ICD10:A84.9|ICD10:A84.1|ICD10:A84.8|UMLS:C0014061|MedDRA:10043848|DOID:0050175|EFO:1001309|ICD9:063.2|NCIT:C34579|Orphanet:297|ICD10:A84.0|MESH:D004675	ordo_disease|gard_rare	TBE|central European encephalitis|west-Siberian encephalitis|Siberian tick-borne encephalitis|Western European tick-borne encephalitis|Far Eastern TBE|Russian spring-summer encephalitis|Tick-borne viral encephalitis|taiga encephalitis	http://purl.obolibrary.org/obo/MONDO_0017572	Tick-borne encephalitis is caused by an arbovirus of the Flaviviridae family (tick-borne encephalitis virus, TBEV), transmitted principally by the bite of the Ixodes ricinus tick. The symptomology is biphasic, with the initial phase being associated with a flu-like illness and the second phase (occurring in less than 10% of patients) with symptoms of meningitis or, more rarely, meningoencephalitis.	MESH:D004675|MEDDRA:10043848|UMLS:C0014061|DOID:0050175|NCIT:C34579|ORPHA:297
ECTO:0000258	steroid hormone exposure	biolink:OntologyClass	mondo			exposure to steroid hormone	http://purl.obolibrary.org/obo/ECTO_0000258	An exposure to steroid hormone.	
MONDO:0017573	46,XX disorder of sex development-anorectal anomalies syndrome	biolink:Disease	mondo	ICD10:Q56.2|UMLS:CN203326|Orphanet:2973	ordo_malformation_syndrome	female pseudohermaphroditism-anorectal anomalies syndrome	http://purl.obolibrary.org/obo/MONDO_0017573	46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut.	UMLS:CN203326|ORPHA:2973
ECTO:0000259	glucocorticoid exposure	biolink:OntologyClass	mondo			exposure to glucocorticoid	http://purl.obolibrary.org/obo/ECTO_0000259	An exposure to glucocorticoid.	
MONDO:0005599	malignant epithelioid mesothelioma	biolink:Disease	mondo	DOID:4489|NCIT:C7985|UMLS:C0862312|EFO:0006452|ICDO:9052/3		epithelioid mesothelioma, malignant (morphologic abnormality)|epithelioid mesothelioma|epithelioid mesothelioma, malignant|epithelial mesothelioma|malignant epithelial mesothelioma|epithelial mesothelioma	http://purl.obolibrary.org/obo/MONDO_0005599	A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic cells with an epithelioid appearance. In the majority of cases, the neoplastic epithelioid cells lack significant cytologic atypia; mitotic figures are infrequently seen. In a minority of cases, the neoplastic cells are poorly differentiated and there is evidence of nuclear atypia and increased mitotic activity.	DOID:4489|NCIT:C7985|UMLS:C0862312
MONDO:0005596	cystadenocarcinoma	biolink:Disease	mondo	NCIT:C2971|DOID:3111|MESH:D003536|EFO:0006387|ICDO:8440/3|UMLS:C0010631		cystadenocarcinoma|cystadenocarcinoma NOS (morphologic abnormality)|cystadenocarcinoma (morphologic abnormality)|cystadenocarcinoma, malignant	http://purl.obolibrary.org/obo/MONDO_0005596	A malignant cystic epithelial neoplasm arising from the glandular epithelium. The malignant epithelial cells invade the stroma. The cystic spaces contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenocarcinomas.	DOID:3111|UMLS:C0010631|MESH:D003536|NCIT:C2971
MONDO:0005595	laryngeal squamous cell carcinoma	biolink:Disease	mondo	Orphanet:494550|EFO:0006352|ONCOTREE:LXSC|UMLS:C0280324|NCIT:C4044|SCTID:405822008|DOID:2876	ordo_disease	LXSC|laryngeal throat squamous cell cancer|epidermoid carcinoma of the larynx|epidermoid carcinoma of larynx|larynx epidermoid carcinoma|squamous cell carcinoma of larynx|squamous cell carcinoma of the larynx|larynx squamous cell carcinoma|laryngeal epidermoid carcinoma|laryngeal squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0005595	A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx.	UMLS:C0280324|DOID:2876|NCIT:C4044|SNOMEDCT:405822008|ORPHA:494550
MONDO:0005598	dopaminergic neuroblastoma	biolink:Disease	mondo	PMID:3385588|EFO:0006391			http://purl.obolibrary.org/obo/MONDO_0005598	A neuroblastoma associated with increased dopamine excretion.	
MONDO:0005597	cystic renal cell carcinoma	biolink:Disease	mondo	EFO:0006388|PMID:3739121			http://purl.obolibrary.org/obo/MONDO_0005597	Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis.	
MONDO:0005592	smooth surface dental caries	biolink:Disease	mondo	ICD9:521.07|EFO:0006339			http://purl.obolibrary.org/obo/MONDO_0005592		
MONDO:0005591	pit and fissure surface dental caries	biolink:Disease	mondo	ICD9:521.06|EFO:0006338			http://purl.obolibrary.org/obo/MONDO_0005591		
MONDO:0005594	severe cutaneous adverse reaction	biolink:Disease	mondo	MedDRA:20000020|EFO:0006346|NCIT:C34483|SCTID:275322007		scarring|Scar|SCAR	http://purl.obolibrary.org/obo/MONDO_0005594	A permanent mark left on the skin in the process of wound healing.	SNOMEDCT:275322007|NCIT:C34483
MONDO:0005593	chronic periodontitis	biolink:Disease	mondo	EFO:0006343|ICD9:523.4|NCIT:C35326|COHD:138790|SCTID:5689008|MESH:D055113|ICD10:K05.3|ICD9:523.40		periodontitis, chronic	http://purl.obolibrary.org/obo/MONDO_0005593	A chronic inflammatory process that affects the tissues that surround and support the teeth.	MESH:D055113|NCIT:C35326|SNOMEDCT:5689008
MONDO:0005590	breast ductal adenocarcinoma	biolink:Disease	mondo	MESH:D018270|EFO:0006318|DOID:3007|NCIT:C4017		ductal adenocarcinoma|ductal carcinoma of breast|ductal carcinoma|ductal carcinoma of the breast|ductal breast adenocarcinoma|ductal breast carcinoma|duct adenocarcinoma|breast ductal carcinoma|mammary duct adenocarcinoma|duct carcinoma, NOS|duct carcinoma	http://purl.obolibrary.org/obo/MONDO_0005590	A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist.	MESH:D018270|NCIT:C4017|DOID:3007
MONDO:0017567	macrodactyly of toes, bilateral	biolink:Disease	mondo	Orphanet:295245|ICD10:Q74.2	ordo_clinical_subtype	macrodactyly of foot, bilateral	http://purl.obolibrary.org/obo/MONDO_0017567		ORPHA:295245
MONDO:0017568	Prata-Liberal-Goncalves syndrome	biolink:Disease	mondo	UMLS:CN203304|GARD:0000491|ICD10:Q87.8|Orphanet:2956|UMLS:C2931761	ordo_malformation_syndrome	brachydactyly-scoliosis-carpal fusion syndrome|acrodysplasia scoliosis	http://purl.obolibrary.org/obo/MONDO_0017568	Acrodysplasia scoliosis is a rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984.	ORPHA:2956|UMLS:C2931761|UMLS:CN203304|MESH:C538180|MESH:C538277
MONDO:0017569	de Barsy syndrome	biolink:Disease	mondo	GARD:49|GARD:0000049|MESH:C535990|PMID:18388779|DOID:0070143|ICD10:Q87.8|Orphanet:2962|SCTID:238826008	ordo_disease|gard_rare	cutis laxa growth deficiency syndrome|autosomal recessive cutis laxa type III|cutis laxa-corneal clouding-intellectual disability syndrome|progeroid syndrome, De Barsy type|corneal clouding, cutis laxa and mental retardation|progeroid syndrome of de Barsy|De Barsy syndrome|progeroid syndrome, de Barsy type|corneal clouding, cutis laxa and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0017569	A rare autosomal recessive genetic disorder characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.	ORPHA:2962|SNOMEDCT:238826008|MESH:C535990|DOID:0070143|UMLS:C0268354
MONDO:0017563	congenital patella dislocation, bilateral	biolink:Disease	mondo	ICD10:Q74.1|Orphanet:295237	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017563		ORPHA:295237
MONDO:0017564	macrodactyly of fingers, unilateral	biolink:Disease	mondo	ICD10:Q74.0|Orphanet:295239	ordo_clinical_subtype	macrodactyly of hand, unilateral	http://purl.obolibrary.org/obo/MONDO_0017564		ORPHA:295239
MONDO:0017565	macrodactyly of fingers, bilateral	biolink:Disease	mondo	Orphanet:295241|ICD10:Q74.0	ordo_clinical_subtype	macrodactyly of hand, bilateral	http://purl.obolibrary.org/obo/MONDO_0017565		ORPHA:295241
MONDO:0017566	macrodactyly of toes, unilateral	biolink:Disease	mondo	Orphanet:295243|ICD10:Q74.2	ordo_clinical_subtype	macrodactyly of foot, unilateral	http://purl.obolibrary.org/obo/MONDO_0017566		ORPHA:295243
HP:0031816	Abnormal oral morphology	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0031816	Any structural anomaly of the mouth, which is also known as the oral cavity.	
MONDO:0017560	congenital genu recurvatum	biolink:Disease	mondo	ICD9:754.40|SCTID:205063003|ICD10:Q68.2|NCIT:C103184|Orphanet:295229|COHD:78241	ordo_clinical_subtype	genu recurvatum|hyperextension of knee deformity|hyperextension deformity of knee	http://purl.obolibrary.org/obo/MONDO_0017560	An abnormal alignment of the knee backwards that is due to a deformity in the knee joint.	ORPHA:295229|SNOMEDCT:205063003|UMLS:C0152235|NCIT:C103184
MONDO:0017561	congenital genu flexum	biolink:Disease	mondo	Orphanet:295232|ICD10:Q68.2	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017561		ORPHA:295232
MONDO:0017562	congenital patella dislocation, unilateral	biolink:Disease	mondo	ICD10:Q74.1|Orphanet:295234	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017562		ORPHA:295234
GO:0032042	mitochondrial DNA metabolic process	biolink:OntologyClass	mondo			mtDNA metabolism|mitochondrial DNA metabolism|mtDNA metabolic process	http://purl.obolibrary.org/obo/GO_0032042	The chemical reactions and pathways involving mitochondrial DNA.	
CL:2000032	peripheral nervous system neuron	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_2000032	Any neuron that is part of a peripheral nervous system.	
UBERON:0002360	meninx	biolink:AnatomicalEntity	mondo			meninx primitiva|meningeal layer|layer of meninges	http://purl.obolibrary.org/obo/UBERON_0002360	Membrane organ that surrounds the brain and the spinal cord.	
CHEBI:59740	nucleophilic reagent	biolink:ChemicalSubstance	mondo			nucleophiles|nucleophilic reagents|nucleophile	http://purl.obolibrary.org/obo/CHEBI_59740	A reagent that forms a bond to its reaction partner (the electrophile) by donating both bonding electrons.	
UBERON:0002362	arachnoid mater	biolink:AnatomicalEntity	mondo			arachnoid mater of neuraxis|arachnoidea mater|arachnoid membrane|arachnoid	http://purl.obolibrary.org/obo/UBERON_0002362	A think avascular meningeal layer, between the pia mater and the dural mater. It is separated from the pia mater by the subarachnoid space.	
UBERON:0002361	pia mater	biolink:AnatomicalEntity	mondo			pia mater of neuraxis|pia|pial membrane	http://purl.obolibrary.org/obo/UBERON_0002361	The innermost layer of the leptomeninges, consisting of a delicate membrane closely covering the surface of the brain and spinal cord,and lying under the arachnoid membrane. The pia, unlike the arachnoid, extends into the sulci in gyrencephalic animals.	
UBERON:0002368	endocrine gland	biolink:AnatomicalEntity	mondo			ductless gland|glandulae endocrinae|ductless gland|glandula endocrina	http://purl.obolibrary.org/obo/UBERON_0002368	Endocrine glands are glands of the endocrine system that secrete their products directly into the circulatory system rather than through a duct.[WP, modified].	
UBERON:0002367	prostate gland	biolink:AnatomicalEntity	mondo			prostata|male prostate|prostate	http://purl.obolibrary.org/obo/UBERON_0002367	The prostate gland is a partly muscular, partly glandular body that is situated near the base of the mammalian male urethra and secretes an alkaline viscid fluid which is a major constituent of the ejaculatory fluid.	
HGNC:905	AXL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/905		
UBERON:0002369	adrenal gland	biolink:AnatomicalEntity	mondo			adrenal|epinephric gland|adrenal capsule|glandula suprarenalis|atrabiliary capsule|interrenal gland|suprarenal gland|glandula suprarenalis|glandula adrenalis|epinephros|adrenal medulla cell|suprarenal capsule	http://purl.obolibrary.org/obo/UBERON_0002369	Either of a pair of complex endocrine organs near the anterior medial border of the kidney consisting of a mesodermal cortex that produces glucocorticoid, mineralocorticoid, and androgenic hormones and an ectodermal medulla that produces epinephrine and norepinephrine[BTO].	
UBERON:0002364	tympanic membrane	biolink:AnatomicalEntity	mondo			Rivinus' membrane|myrinx|paries membranaceus cavi tympani|eardrum|lateral wall of tympanic cavity|tympanum|ear drum|membranous wall of tympanic cavity	http://purl.obolibrary.org/obo/UBERON_0002364	A thin membrane that separates the external ear from the middle ear, consisting of two epithelia (one part of the the external accoustic meatus epithelium, the other part of the tympanic cavity epithelium) with a fibrous layer between them. Its function is to transmit sound from the air to the ossicles inside the middle ear. The malleus bone bridges the gap between the eardrum and the other ossicles. Rupture or perforation of the eardrum can lead to conductive hearing loss. [WP,unvetted].	
HGNC:904	AXIN2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/904		
UBERON:0002363	dura mater	biolink:AnatomicalEntity	mondo			pachymeninges|dura mater of neuraxis|dura	http://purl.obolibrary.org/obo/UBERON_0002363	Thick, fibrous meningeal covering surrounding the brain and spinal cord. It is the outermost of the three meningeal coverings. It consists of two layers: the periosteal dura linking the inner surface of the skull and the meningeal dura that lies above the arachnoid dural membrane. The meningeal layer draws away from the periosteal layer and certain locations to form the dural reflections.	
HGNC:903	AXIN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/903		
UBERON:0002366	bulbo-urethral gland	biolink:AnatomicalEntity	mondo			Mery's gland|glandula bulbourethralis|bulbourethral gland|Méry gland|Cowper's glands|Cowper's gland of male|Cowper's gland	http://purl.obolibrary.org/obo/UBERON_0002366	Any of the small paired racemose glands below the apex of the prostate in males, located posterolateral to the membranous portion of the urethra at the base of the penis, between the two layers of the fascia of the urogenital diaphragm, in the deep perineal pouch, and enclosed by transverse fibers of the sphincter urethrae membranaceae muscle; homologous to the greater vestibular (Bartholin's) glands in the female[MP]	
UBERON:0002365	exocrine gland	biolink:AnatomicalEntity	mondo			glandula exocrina|ducted gland	http://purl.obolibrary.org/obo/UBERON_0002365	A gland that secretes products (excluding hormones and other chemical messengers) into ducts (duct glands) which lead directly into the external environment[WP]. Typical exocrine glands include sweat glands, salivary glands, mammary glands, stomach, liver, pancreas	
UBERON:0002349	myocardium	biolink:AnatomicalEntity	mondo			cardiac muscle|muscle of heart|heart myocardium|heart muscle	http://purl.obolibrary.org/obo/UBERON_0002349	the middle layer of the heart, comprised mainly of striated cardiac muscle fibers	
UBERON:0002351	sinoatrial node	biolink:AnatomicalEntity	mondo			node of Keith-Flack|sinu-atrial node|Koch's node|cardiac pacemaker|sinus node|nodus sinuatrialis|sinus node of Keith and Flack|sinoatrial node|nodus sinuatrialis|SA node|sinuatrial nodal muscle tissue|sinuatrial node|SA nodal muscle tissue	http://purl.obolibrary.org/obo/UBERON_0002351	The part of the cardiac conduction system that controls the timing of heart muscle contraction. It relays electrical signals to the AV node[GO]. Subdivision of conducting system of heart at the junction of the right atrium and the superior vena cava, around the sinoatrial nodal branch of right coronary artery and is continuous with the internodal tract[FMA].	
CHEBI:35785	sphingoid	biolink:ChemicalSubstance	mondo			sphingoid bases|sphingoids|sphingoid base|sphingoid|Spd	http://purl.obolibrary.org/obo/CHEBI_35785	Sphinganine, its homologs and stereoisomers, and the hydroxy and unsaturated derivatives of these compounds.	
UBERON:0002350	conducting system of heart	biolink:AnatomicalEntity	mondo			cardiac conducting system|central conduction system|impulse conducting system|cardiac conduction system|cardiac impulse conducting system|heart conduction system|cardionector|complexus stimulans cordis|systema conducente cordis	http://purl.obolibrary.org/obo/UBERON_0002350	The cardiac conduction system consists of specialized cardiomyocytes that regulate the frequency of heart beat[GO]	
CL:2000029	central nervous system neuron	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_2000029	Any neuron that is part of a central nervous system.	
CHEBI:35789	oxo steroid	biolink:ChemicalSubstance	mondo			keto steroids|oxo steroids|oxosteroids|ketosteroids	http://purl.obolibrary.org/obo/CHEBI_35789		
UBERON:0002357	serous pericardium	biolink:AnatomicalEntity	mondo			pericardium serosum|serous portion of pericardium	http://purl.obolibrary.org/obo/UBERON_0002357	Serous membrane which is divided into parietal and visceral serous pericardium.	
UBERON:0002359	fibrous pericardium	biolink:AnatomicalEntity	mondo			fibrous portion of pericardium|pericardium fibrosum	http://purl.obolibrary.org/obo/UBERON_0002359	Membrane organ which is attached to the pericardial sac proper and the central tendon of diaphragm and is continuous with the pretracheal fascia.[FMA]	
UBERON:0002358	peritoneum	biolink:AnatomicalEntity	mondo			peritonaeum	http://purl.obolibrary.org/obo/UBERON_0002358	A serous membrane that lines the peritoneal cavity[VHOG,modified].	
UBERON:0002353	atrioventricular bundle	biolink:AnatomicalEntity	mondo			AV bundle|atrioventricular bundle muscle tissue|fasciculus atrioventricularis|bundle of His|atrio-ventricular bundle|A-V bundle|atrioventricular fasciculus|His bundle	http://purl.obolibrary.org/obo/UBERON_0002353	A part of the His-Purkinje system that transmits signals from the AV node to the cardiac Purkinje fibers[GO]	
CHEBI:35780	phosphate ion	biolink:ChemicalSubstance	mondo			phosphate|phosphate ions|Pi	http://purl.obolibrary.org/obo/CHEBI_35780	A phosphorus oxoanion that is the conjugate base of phosphoric acid.	
UBERON:0002352	atrioventricular node	biolink:AnatomicalEntity	mondo			nodus atrioventricularis|downstream pacemaker|AV node|atrioventricular nodal muscle tissue|atriovetricular node|AV nodal muscle tissue|Aschoff-Tawara node|atrio-ventricular node|A-V node|nodus atrioventricularis|node of Tawara	http://purl.obolibrary.org/obo/UBERON_0002352	An area of conducting tissue between the atria and the ventricles of the heart that conducts the normal electrical impulse from the atria to the ventricles.	
HGNC:914	B2M	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/914		
UBERON:0002355	pelvic region of trunk	biolink:AnatomicalEntity	mondo			true pelvis|pelvis region|pelvic region|pelvis|lesser pelvis	http://purl.obolibrary.org/obo/UBERON_0002355	The lower segment of the trunk, inferioposterior to the abdomen proper, in the transition area between the trunk and the lower limbs.	
GO:0044042	glucan metabolic process	biolink:OntologyClass	mondo			glucan metabolism	http://purl.obolibrary.org/obo/GO_0044042	The chemical reactions and pathways involving glucans, polysaccharides consisting only of glucose residues.	
UBERON:0002339	epithelium of lobar bronchus	biolink:AnatomicalEntity	mondo			lobar bronchus epithelium|epithelial tissue of lobar bronchus|epithelial tissue of secondary bronchus|epithelium of secondary bronchus|lobar bronchus epithelial tissue|secondary bronchus epithelium|secondary bronchus epithelial tissue|lobar bronchial epithelium	http://purl.obolibrary.org/obo/UBERON_0002339	The tissue made up of epithelial cells that lines the inside of the lobar bronchus.	
UBERON:0002338	lamina propria of bronchus	biolink:AnatomicalEntity	mondo			lamina propria mucosa of bronchi|lamina propria mucosa of bronchial trunk|lamina propria mucosa of bronchus|lamina propria of bronchi|lamina propria of bronchial trunk|lamina propria mucosae of bronchi|lamina propria mucosae of bronchial trunk|bronchus lamina propria mucosae|bronchi lamina propria mucosa|bronchial trunk lamina propria mucosa|bronchial trunk lamina propria mucosae|bronchi lamina propria mucosae|bronchus lamina propria mucosa|bronchus lamina propria|lamina propria mucosae of bronchus|bronchial trunk lamina propria|bronchial lamina propria|bronchi lamina propria	http://purl.obolibrary.org/obo/UBERON_0002338	A lamina propria that is part of a bronchus [Automatically generated definition].	
CL:2000055	liver dendritic cell	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_2000055	Any dendritic cell that is part of a liver.	
UBERON:0002340	epithelium of main bronchus	biolink:AnatomicalEntity	mondo			main bronchial epithelium|main bronchus epithelium|bronchus principalis epithelium|principal bronchus epithelial tissue|epithelial tissue of bronchus principalis|epithelium of bronchus principalis|primary bronchus epithelial tissue|primary bronchus epithelium|epithelial tissue of principal bronchus|epithelial tissue of main bronchus|epithelium of principal bronchus|bronchus principalis epithelial tissue|principal bronchus epithelium|epithelial tissue of primary bronchus|main bronchus epithelial tissue|epithelium of primary bronchus	http://purl.obolibrary.org/obo/UBERON_0002340	An epithelium that is part of a main bronchus [Automatically generated definition].	
CHEBI:35757	monocarboxylic acid anion	biolink:ChemicalSubstance	mondo			Carboxylate|a monocarboxylate|Monocarboxylate|monocarboxylic acid anions|monocarboxylates	http://purl.obolibrary.org/obo/CHEBI_35757	A carboxylic acid anion formed when the carboxy group of a monocarboxylic acid is deprotonated.	
UBERON:0002346	neurectoderm	biolink:AnatomicalEntity	mondo			neuroectoderm|epithelium tubi neuralis; neuroectoderma|ventral neurogenic region|presumptive central nervous system|neuaral ectoderm|neural ectoderm	http://purl.obolibrary.org/obo/UBERON_0002346	Embryonic ectoderm that gives rise to nervous tissue.	
UBERON:0002348	epicardium	biolink:AnatomicalEntity	mondo			pericardium visceral mesothelium|heart epicardium|visceral serous pericardium proper|visceral serous pericardium of heart	http://purl.obolibrary.org/obo/UBERON_0002348	a region of the serous membrane that forms the innermost layer of the pericardium and the outer surface of the heart.	
UBERON:0002347	thoracic vertebra	biolink:AnatomicalEntity	mondo			thorax vertebra|vertebra thoracica|dorsal vertebra|vertebra of thorax	http://purl.obolibrary.org/obo/UBERON_0002347	A thoracic vertebra endochondral element that is composed primarily of a bone tissue.	
UBERON:0002342	neural crest	biolink:AnatomicalEntity	mondo			crista neuralis|neural crest material|NC	http://purl.obolibrary.org/obo/UBERON_0002342	A specialized region of ectoderm found between the neural ectoderm (neural plate) and non-neural ectoderm and composed of highly migratory pluripotent cells that delaminate in early embryonic development from the dorsal neural tube and give rise to an astounding variety of differentiated cell types[MP].	
UBERON:0002341	epithelium of segmental bronchus	biolink:AnatomicalEntity	mondo			epithelium of tertiary bronchus|segmental bronchus epithelial tissue|epithelial tissue of tertiary bronchus|segmental bronchial epithelium|tertiary bronchus epithelial tissue|tertiary bronchus epithelium|epithelial tissue of segmental bronchus|segmental bronchus epithelium	http://purl.obolibrary.org/obo/UBERON_0002341	An epithelium that is part of a segmental bronchus [Automatically generated definition].	
UBERON:0002343	abdomen musculature	biolink:AnatomicalEntity	mondo			muscle group of abdomen|muscles of abdomen|musculature of abdomen|set of muscles of abdomen|musculature of abdominal wall|abdominal musculature	http://purl.obolibrary.org/obo/UBERON_0002343	Set of all muscles in abdomen.	
UBERON:0002328	notochord	biolink:AnatomicalEntity	mondo			embryonic notocord|notochorda|notocord	http://purl.obolibrary.org/obo/UBERON_0002328	A flexible rod-shaped body found in embryos of all chordates. It is composed of cells derived from the mesoderm and defines the primitive axis of the embryo. In some chordates, it persists throughout life as the main axial support of the body, while in most vertebrates it becomes the nucleus pulposus of the intervertebral disc. The notochord is found ventral to the neural tube.	
UBERON:0004989	mucosa of appendix	biolink:AnatomicalEntity	mondo			mucosa of organ of vermiform appendix|mucosa of vermix|organ mucosa of vermix|caecal appendix mucous membrane|mucous membrane of vermix|mucous membrane of appendix|mucosa of organ of caecal appendix|organ mucosa of appendix|mucosa of vermiform appendix|mucous membrane of vermiform appendix|caecal appendix mucosa|organ mucosa of vermiform appendix|appendix mucosa of organ|caecal appendix organ mucosa|vermix mucosa of organ|appendiceal mucous membrane|vermiform appendix mucosa of organ|vermiform appendix mucosa|vermiform appendix organ mucosa|appendix mucous membrane|vermix mucous membrane|appendix mucosa|vermix mucosa|caecal appendix mucosa of organ|appendix organ mucosa|organ mucosa of caecal appendix|mucosa of organ of appendix|mucosa of organ of vermix|vermix organ mucosa|mucous membrane of caecal appendix|vermiform appendix mucous membrane|mucosa of caecal appendix	http://purl.obolibrary.org/obo/UBERON_0004989	A mucosa that is part of an appendix [Automatically generated definition].	
UBERON:0002329	somite	biolink:AnatomicalEntity	mondo			somites|somitus|somitic mesoderm|epimere|epimere mesoderm|mesodermal cluster|epithelial somite	http://purl.obolibrary.org/obo/UBERON_0002329	Somites are spheres of epithelial cells that form sequentially along the anterior-posterior axis of the embryo through mesenchymal to epithelial transition of the presomitic mesoderm.	
GO:1900543	negative regulation of purine nucleotide metabolic process	biolink:OntologyClass	mondo			negative regulation of purine metabolic process|down-regulation of purine metabolic process|downregulation of purine metabolism|inhibition of purine metabolic process|down-regulation of purine nucleotide metabolic process|downregulation of purine nucleotide metabolism|inhibition of purine metabolism|downregulation of purine metabolic process|down regulation of purine nucleotide metabolic process|down-regulation of purine metabolism|negative regulation of purine metabolism|down regulation of purine nucleotide metabolism|down regulation of purine metabolic process|downregulation of purine nucleotide metabolic process|inhibition of purine nucleotide metabolism|inhibition of purine nucleotide metabolic process|down-regulation of purine nucleotide metabolism|down regulation of purine metabolism|negative regulation of purine nucleotide metabolism	http://purl.obolibrary.org/obo/GO_1900543	Any process that stops, prevents or reduces the frequency, rate or extent of purine nucleotide metabolic process.	
GO:1900542	regulation of purine nucleotide metabolic process	biolink:OntologyClass	mondo			regulation of purine metabolism|regulation of purine nucleotide metabolism|regulation of purine metabolic process	http://purl.obolibrary.org/obo/GO_1900542	Any process that modulates the frequency, rate or extent of purine nucleotide metabolic process.	
GO:0044058	regulation of digestive system process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0044058	Any process that modulates the frequency, rate or extent of a digestive system process, a physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism.	
GO:1900544	positive regulation of purine nucleotide metabolic process	biolink:OntologyClass	mondo			upregulation of purine metabolic process|up regulation of purine nucleotide metabolic process|positive regulation of purine nucleotide metabolism|up-regulation of purine metabolism|activation of purine nucleotide metabolic process|positive regulation of purine metabolic process|up regulation of purine nucleotide metabolism|up regulation of purine metabolism|up regulation of purine metabolic process|upregulation of purine nucleotide metabolic process|positive regulation of purine metabolism|up-regulation of purine nucleotide metabolism|up-regulation of purine metabolic process|activation of purine nucleotide metabolism|upregulation of purine metabolism|activation of purine metabolism|up-regulation of purine nucleotide metabolic process|upregulation of purine nucleotide metabolism|activation of purine metabolic process	http://purl.obolibrary.org/obo/GO_1900544	Any process that activates or increases the frequency, rate or extent of purine nucleotide metabolic process.	
GO:0044057	regulation of system process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0044057	Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by any of the organs or tissues in an organ system.	
UBERON:0004990	mucosa of ascending colon	biolink:AnatomicalEntity	mondo			organ mucosa of ascending colon|ascending colon mucosa of organ|mucous membrane of ascending colon|ascending colon mucosa|ascending colon organ mucosa|ascending colon mucous membrane|mucosa of organ of ascending colon	http://purl.obolibrary.org/obo/UBERON_0004990	A mucosa that is part of an ascending colon [Automatically generated definition].	
UBERON:0004991	mucosa of transverse colon	biolink:AnatomicalEntity	mondo			transverse colon mucous membrane|mucosa of organ of transverse colon|transverse colon mucosa|organ mucosa of transverse colon|mucous membrane of transverse colon|transverse colon organ mucosa|transverse colon mucosa of organ	http://purl.obolibrary.org/obo/UBERON_0004991	A mucosa that is part of a transverse colon [Automatically generated definition].	
UBERON:0004998	mucosa of pylorus	biolink:AnatomicalEntity	mondo			stomach pyloric region mucosa of organ|organ mucosa of pyloric part of stomach|antropyloric mucosa|pyloric part of stomach mucosa of organ|mucous membrane of pyloric part of stomach|mucosa of pyloric part of stomach|pylorus mucosa|stomach pyloric region mucous membrane|pylorus organ mucosa|mucosa of organ of pyloric part of stomach|pyloric part of stomach mucous membrane|mucosa of organ of stomach pyloric region|mucous membrane of pylorus|pylorus mucosa of organ|organ mucosa of pylorus|mucosa of stomach pyloric region|mucous membrane of stomach pyloric region|organ mucosa of stomach pyloric region|pyloric part of stomach mucosa|pyloric part of stomach organ mucosa|stomach pyloric region mucosa|pylorus mucous membrane|mucosa of organ of pylorus|stomach pyloric region organ mucosa	http://purl.obolibrary.org/obo/UBERON_0004998	A mucosa that is part of a pylorus [Automatically generated definition].	
UBERON:0004999	mucosa of biliary tree	biolink:AnatomicalEntity	mondo			organ mucosa of biliary tree|mucous membrane of biliary tree|biliary tree mucosa of organ|mucous membrane of biliary tract|organ mucosa of biliary tract|biliary tract mucosa of organ|mucosa of biliary tract|biliary tree mucous membrane|biliary tract mucosa|biliary tract mucous membrane|biliary tract organ mucosa|mucosa of organ of biliary tree|mucosa of organ of biliary tract|biliary tree mucosa|biliary tree organ mucosa	http://purl.obolibrary.org/obo/UBERON_0004999	A mucosa that is part of a biliary tree [Automatically generated definition].	
UBERON:0002334	submandibular duct	biolink:AnatomicalEntity	mondo			ductus submandibularis|Wharton's duct|submandibular salivary duct|ductus submaxillaris|submaxillary duct|submaxillar gland duct	http://purl.obolibrary.org/obo/UBERON_0002334	the duct of the submadibular gland that opens at the sublingual papilla near the frenulum of the tongue	
UBERON:0004996	mucosa of cardia of stomach	biolink:AnatomicalEntity	mondo			cardial part of stomach mucosa|stomach cardiac region mucous membrane|mucosa of gastric cardia|cardial part of stomach organ mucosa|mucosa of organ of stomach cardiac region|organ mucosa of gastric cardia|mucous membrane of gastric cardia|stomach cardiac region mucosa|mucosa of organ of cardial part of stomach|cardial part of stomach mucous membrane|mucosa of pars cardiaca (gaster)|stomach cardiac region organ mucosa|organ mucosa of pars cardiaca (gaster)|mucous membrane of pars cardiaca (gaster)|mucosa of stomach cardiac region|gastric cardia mucosa of organ|pars cardiaca (gaster) mucosa|organ mucosa of cardia of stomach|cardia of stomach mucosa of organ|cardia of stomach mucosa|organ mucosa of stomach cardiac region|mucous membrane of cardia of stomach|mucous membrane of stomach cardiac region|pars cardiaca (gaster) organ mucosa|cardia of stomach organ mucosa|gastric cardia mucosa|pars cardiaca (gaster) mucosa of organ|gastric cardia organ mucosa|gastric cardia mucous membrane|stomach cardiac region mucosa of organ|mucosa of organ of cardia of stomach|cardia of stomach mucous membrane|pars cardiaca (gaster) mucous membrane|mucosa of organ of gastric cardia|organ mucosa of cardial part of stomach|mucous membrane of cardial part of stomach|cardial part of stomach mucosa of organ|mucosa of organ of pars cardiaca (gaster)|mucosa of cardial part of stomach	http://purl.obolibrary.org/obo/UBERON_0004996	A mucosa that is part of a cardia of stomach [Automatically generated definition].	
UBERON:0002337	endometrial stroma	biolink:AnatomicalEntity	mondo			stroma of endometrium|endometrium stroma	http://purl.obolibrary.org/obo/UBERON_0002337	The layer of connective tissue comprised of the endometrial lining of the uterus which fluctuates in thickness throughout the menstrual cycle.	
UBERON:0004997	mucosa of pyloric antrum	biolink:AnatomicalEntity	mondo			mucosa of organ of pyloric antrum|stomach pyloric antrum mucosa of organ|mucous membrane of antrum of stomach|organ mucosa of antrum of stomach|antrum of stomach mucosa of organ|mucosa of antrum of stomach|pyloric antrum mucosa|pyloric antrum organ mucosa|mucous membrane of pyloric antrum|organ mucosa of pyloric antrum|stomach pyloric antrum mucous membrane|antral mucosa|mucosa of organ of antrum of stomach|antrum of stomach mucous membrane|mucosa of organ of stomach pyloric antrum|gastric antrum mucosa|pyloric antrum mucosa of organ|mucosa of stomach pyloric antrum|antrum of stomach mucosa|organ mucosa of stomach pyloric antrum|stomach pyloric antrum mucosa|antrum of stomach organ mucosa|mucous membrane of stomach pyloric antrum|stomach pyloric antrum organ mucosa|pyloric antrum mucous membrane	http://purl.obolibrary.org/obo/UBERON_0004997	A mucosa that is part of a pyloric antrum [Automatically generated definition].	
UBERON:0002336	corpus callosum	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0002336	White matter structure containing massive numbers of commissural fibers connecting cortical areas in the two cerebral hemispheres.it is subdivided into a genu, a rostrum, a body, and a splenium. (MM)	
UBERON:0004994	mucosa of fundus of stomach	biolink:AnatomicalEntity	mondo			stomach fundus mucosa of organ|fundus of stomach mucosa of organ|organ mucosa of fundus of stomach|mucous membrane of fundus of stomach|fundus gastricus (ventricularis) mucosa of organ|stomach fundus mucous membrane|fundus of stomach mucous membrane|mucosa of organ of fundus of stomach|fundus gastricus (ventricularis) mucous membrane|mucosa of organ of stomach fundus|mucosa of organ of fundus gastricus (ventricularis)|fundus gastricus (ventricularis) mucosa|fundus gastricus (ventricularis) organ mucosa|fundus of stomach mucosa|mucosa of stomach fundus|organ mucosa of stomach fundus|mucous membrane of stomach fundus|stomach fundus mucosa|fundus of stomach organ mucosa|mucosa of fundus gastricus (ventricularis)|stomach fundus organ mucosa|mucous membrane of fundus gastricus (ventricularis)|organ mucosa of fundus gastricus (ventricularis)	http://purl.obolibrary.org/obo/UBERON_0004994	A mucosa that is part of a fundus of stomach [Automatically generated definition].	
UBERON:0002331	umbilical cord	biolink:AnatomicalEntity	mondo			connecting stalk|chorda umbilicalis|yolk stalk|funiculus umbilicalis|birth cord|funiculus umbilicalis	http://purl.obolibrary.org/obo/UBERON_0002331	The connecting cord from the developing embryo to the placenta.	
UBERON:0004995	mucosa of body of stomach	biolink:AnatomicalEntity	mondo			mucous membrane of body of stomach|body of stomach mucosa of organ|gastric body mucous membrane|organ mucosa of body of stomach|gastric body mucosa|stomach body mucosa of organ|corpus gastricum (ventriculare) mucosa of organ|gastric body organ mucosa|mucous membrane of corpus gastricum (ventriculare)|mucosa of organ of gastric body|organ mucosa of corpus gastricum (ventriculare)|mucosa of corpus gastricum (ventriculare)|mucosa of organ of body of stomach|body of stomach mucous membrane|mucosa of gastric body|stomach body mucous membrane|organ mucosa of gastric body|corpus gastricum (ventriculare) mucous membrane|mucosa of organ of corpus gastricum (ventriculare)|mucous membrane of gastric body|mucosa of organ of stomach body|corpus gastricum (ventriculare) mucosa|corpus gastricum (ventriculare) organ mucosa|gastric body mucosa of organ|stomach body mucosa|body of stomach mucosa|stomach body organ mucosa|mucosa of stomach body|body of stomach organ mucosa|organ mucosa of stomach body|mucous membrane of stomach body	http://purl.obolibrary.org/obo/UBERON_0004995	A mucosa that is part of a body of stomach [Automatically generated definition].	
UBERON:0002330	exocrine system	biolink:AnatomicalEntity	mondo			exocrine glandular system	http://purl.obolibrary.org/obo/UBERON_0002330	Anatomical system that consists of the glands and parts of glands that produce exocrine secretions and help to integrate and control bodily metabolic activity. Exocrine glands are glands that secrete their products (hormones) into ducts (duct glands). They are the counterparts to endocrine glands, which secrete their products (hormones) directly into the bloodstream (ductless glands) or release hormones (paracrines) that affect only target cells nearby the release site. [Wikipedia].	
UBERON:0004992	mucosa of descending colon	biolink:AnatomicalEntity	mondo			mucous membrane of descending colon|organ mucosa of descending colon|descending colon mucosa of organ|descending colon mucosa|descending colon organ mucosa|descending colon mucous membrane|mucosa of organ of descending colon	http://purl.obolibrary.org/obo/UBERON_0004992	A mucosa that is part of a descending colon [Automatically generated definition].	
UBERON:0002333	pulmonary trunk	biolink:AnatomicalEntity	mondo			pulmonary artery (trunk)|trunk of pulmonary arterial tree|main pulmonary artery	http://purl.obolibrary.org/obo/UBERON_0002333	An arterial trunk which is continuous with the heart and branches into the pulmonary arteries.	
UBERON:0004993	mucosa of sigmoid colon	biolink:AnatomicalEntity	mondo			sigmoid colon mucous membrane|mucosa of organ of sigmoid colon|sigmoid colon mucosa|sigmoid colon organ mucosa|sigmoid colon mucosa of organ|organ mucosa of sigmoid colon|mucous membrane of sigmoid colon	http://purl.obolibrary.org/obo/UBERON_0004993	A mucosa that is part of a sigmoid colon [Automatically generated definition].	
MONDO:0005527	toxic encephalopathy	biolink:Disease	mondo	SCTID:28394000|EFO:0005595|ICD10:G92|GARD:0007199|DOID:3602|COHD:373764|ICD9:349.82|MESH:D020258|Wikipedia:Toxic_encephalopathy|NCIT:C27961		neurotoxicity|neurotoxicity syndrome|neurotoxicity syndromes	http://purl.obolibrary.org/obo/MONDO_0005527	A group of neurologic disorders caused by damage to the nervous system following exposure to pharmacologic, biologic, and chemical agents. Examples of neurotoxins include chemotherapy agents, radiation treatment, heavy metals, pesticides, and food additives.	DOID:3602|NCIT:C27961|SNOMEDCT:28394000|MESH:D020258
UBERON:0014382	collection of hairs on head or neck	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0014382	A collection of hairs that is part of a craniocervical region.	
MONDO:0005526	tetanus	biolink:Disease	mondo	Orphanet:3299|DOID:11338|ICD10:A33|COHD:435740|EFO:0005593|GARD:0005144|MedDRA:10043376|MESH:D013742|SCTID:276202003|NCIT:C85185|ICD9:037|ICD10:A35|UMLS:C0039614|SCTID:76902006|ICD10:A34	gard_rare|ordo_disease	Clostridium tetani infectious disease of the nervous system|infection due to Clostridium tetani|clostridial tetanus|lockjaw|Clostridium tetani caused infectious disease of the nervous system	http://purl.obolibrary.org/obo/MONDO_0005526	A serious infectious disorder that follows wound contamination by the Gram-positive bacterium Clostridium tetani. The bacteria produce a neurotoxin called tetanospasmin, which causes muscle spasm in the jaw and other anatomic sites.	NCIT:C85185|DOID:11338|MEDDRA:10043376|ORPHA:3299|SNOMEDCT:76902006|SNOMEDCT:276202003|UMLS:C0039614|MESH:D013742
MONDO:0005529	obsolete methylmalonic aciduria and homocystinuria type cblG	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005529		
MONDO:0005528	inborn vitamin metabolic disorder	biolink:Disease	mondo	EFO:0005596|DOID:0050718		inborn vitamin metabolic process disorder|inborn error of vitamin metabolic process|rare inborn error of vitamin metabolic process|vitamin metabolic disorder|rare inborn error of vitamin metabolic process	http://purl.obolibrary.org/obo/MONDO_0005528	An acquired metabolic disease that is has its basis in the disruption of vitamin metabolic process.	DOID:0050718
UBERON:0014385	aryepiglottic fold	biolink:AnatomicalEntity	mondo			aryepiglottic sphincter|ary-epiglottic fold|plica aryepiglottica|aryepiglottic folds|aryepiglottis	http://purl.obolibrary.org/obo/UBERON_0014385	The entrance of the larynx is a triangular opening, narrow in front, wide behind, and sloping obliquely downward and backward. It is bounded, in front, by the epiglottis; behind, by the apices of the arytenoid cartilages, the corniculate cartilages, and the interarytenoid notch; and on either side, by a fold of mucous membrane, enclosing ligamentous and muscular fibers, stretched between the side of the epiglottis and the apex of the arytenoid cartilage; this is the aryepiglottic fold, on the posterior part of the margin of which the cuneiform cartilage forms a more or less distinct whitish prominence, the cuneiform tubercle. These folds form the upper borders of the quadrangular membrane.	
GO:0044062	regulation of excretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0044062	Any process that modulates the frequency, rate, or extent of excretion, the elimination by an organism of the waste products that arise as a result of metabolic activity.	
MONDO:0005523	steroid inherited metabolic disorder	biolink:Disease	mondo	UMLS:C1257809|EFO:0005590|MESH:D043202|DOID:1701			http://purl.obolibrary.org/obo/MONDO_0005523	Errors in metabolic processing of steroids resulting from inborn genetic mutations that are inherited or acquired in utero.	DOID:1701|UMLS:C1257809|MESH:D043202
GO:0044060	regulation of endocrine process	biolink:OntologyClass	mondo			regulation of endocrine system process	http://purl.obolibrary.org/obo/GO_0044060	Any process that modulates the frequency, rate or extent of an endocrine process, a process involving the secretion of or response to endocrine hormones. An endocrine hormone is a hormone released into the circulatory system.	
MONDO:0005522	small intestine carcinoma	biolink:Disease	mondo	NCIT:C7724|ONCOTREE:SIC|EFO:0005588|DOID:4907|SCTID:448664009		carcinoma of the small bowel|carcinoma of small bowel|small intestine cancer, NOS|cancer of the small bowel|small intestine carcinoma|carcinoma of the small intestine|small intestinal carcinoma|small bowel carcinoma|carcinoma of small intestine|small bowel cancer|small intestine cancer|small intestinal cancer|cancer of small bowel	http://purl.obolibrary.org/obo/MONDO_0005522	A carcinoma that arises from epithelial cells of the small intestine	DOID:4907|NCIT:C7724|SNOMEDCT:448664009
MONDO:0005525	T-cell leukemia	biolink:Disease	mondo	EFO:0005592|UMLS:C0023492|MESH:D015458|DOID:715		leukemia (disease) of T cell|T cell leukemia (disease)	http://purl.obolibrary.org/obo/MONDO_0005525	A malignant disease of the T-lymphocytes in the bone marrow, thymus, and/or blood.	MESH:D015458|DOID:715|UMLS:C0023492
MONDO:0005524	sweat gland carcinoma	biolink:Disease	mondo	NCIT:C6938|EFO:0005591|ICDO:8400/3|UMLS:C1412016|ONCOTREE:AECA|DOID:5667		carcinoma, sweat gland, malignant|sweat gland carcinoma/apocrine eccrine carcinoma|carcinoma of the sweat gland|carcinoma of sweat gland|sweat gland carcinoma	http://purl.obolibrary.org/obo/MONDO_0005524	A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma.	NCIT:C6938|UMLS:C1412016|DOID:5667
MONDO:0005521	obsolete shigellosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005521		
MONDO:0005520	rickets (disease)	biolink:Disease	mondo	EFO:0005583|SCTID:41345002|UMLS:C0035579|DOID:10609|COHD:438719|HP:0002748|ICD9:268.0|NCIT:C26878|GARD:0005700|MESH:D012279|ICD10:E55.0	gard_rare	vitamin D deficiency disease|vitamin D-dependent rickets|nutritional rickets|rachitis|vitamin D hydroxylation-deficient rickets|vitamin-D deficiency rickets|rickets|hypovitaminosis D|active rickets	http://purl.obolibrary.org/obo/MONDO_0005520	Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities.	NCIT:C26878|DOID:10609|SNOMEDCT:41345002|MESH:D012279|UMLS:C0035579
MONDO:0017509	adactyly of foot, unilateral	biolink:Disease	mondo	Orphanet:295116|ICD10:Q72.8	ordo_clinical_subtype	congenital absence of toes, unilateral	http://purl.obolibrary.org/obo/MONDO_0017509		ORPHA:295116
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	biolink:PhenotypicFeature	mondo	UMLS:C1855676|UMLS:C3280770		Hypo/aplastic vermis|Cerebellar vermis aplasia/hypoplasia|Cerebellar vermis aplasia or hypoplasia	http://purl.obolibrary.org/obo/HP_0006817	Absence or underdevelopment of the vermis of cerebellum.	
UBERON:0014387	mesenchyme derived from neural crest	biolink:AnatomicalEntity	mondo			neural crest derived mesenchyme|mesenchyme from neural crest|neural crest mesenchyme	http://purl.obolibrary.org/obo/UBERON_0014387	Mesenchyme that develops_from the neural crest[Automatically generated definition].	
UBERON:0014388	kidney collecting duct epithelium	biolink:AnatomicalEntity	mondo			epithelium of collecting duct of renal tubule|collecting duct of renal tubule epithelium|epithelium of renal collecting tubule	http://purl.obolibrary.org/obo/UBERON_0014388	The simple cuboidal epithelium lining the lumen of kidney collecting ducts.	
GO:0044065	regulation of respiratory system process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0044065	Any process that modulates the frequency, rate or extent of a respiratory system process, an organ system process carried out by any of the organs or tissues of the respiratory system.	
UBERON:0014389	gustatory papilla of tongue	biolink:AnatomicalEntity	mondo			gustatory papillae|taste papillae|taste papilla|gustatory papilla	http://purl.obolibrary.org/obo/UBERON_0014389	A papilla that contain taste buds, including the fungiform, foliate, and circumvallate papillae.	
MONDO:0017516	brachydactyly of fingers, bilateral	biolink:Disease	mondo	ICD10:Q71.8|Orphanet:295130	ordo_clinical_subtype	short fingers, bilateral	http://purl.obolibrary.org/obo/MONDO_0017516		ORPHA:295130
MONDO:0017517	brachydactyly of toes, unilateral	biolink:Disease	mondo	ICD10:Q72.8|Orphanet:295132	ordo_clinical_subtype	short toes, unilateral	http://purl.obolibrary.org/obo/MONDO_0017517		ORPHA:295132
MONDO:0017518	brachydactyly of toes, bilateral	biolink:Disease	mondo	ICD10:Q72.8|Orphanet:295134	ordo_clinical_subtype	short toes, bilateral	http://purl.obolibrary.org/obo/MONDO_0017518		ORPHA:295134
MONDO:0017519	symbrachydactyly of hand and foot, unilateral	biolink:Disease	mondo	UMLS:CN203252|ICD10:Q73.8|Orphanet:295136	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017519		UMLS:CN203252|ORPHA:295136
MONDO:0017512	split hand, bilateral	biolink:Disease	mondo	ICD10:Q71.6|Orphanet:295122	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017512	Split hand, bilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age.	ORPHA:295122
MONDO:0017513	split foot, unilateral	biolink:Disease	mondo	ICD10:Q72.7|Orphanet:295124	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017513		ORPHA:295124
MONDO:0017514	split foot, bilateral	biolink:Disease	mondo	ICD10:Q72.73|Orphanet:295126|ICD10:Q72.7	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017514		ORPHA:295126
MONDO:0017515	brachydactyly of fingers, unilateral	biolink:Disease	mondo	Orphanet:295128|ICD10:Q71.8	ordo_clinical_subtype	short fingers, unilateral	http://purl.obolibrary.org/obo/MONDO_0017515		ORPHA:295128
MONDO:0017510	adactyly of foot, bilateral	biolink:Disease	mondo	Orphanet:295118|ICD10:Q72.8	ordo_clinical_subtype	congenital absence of toes, bilateral	http://purl.obolibrary.org/obo/MONDO_0017510		ORPHA:295118
MONDO:0017511	split hand, unilateral	biolink:Disease	mondo	ICD10:Q71.6|Orphanet:295120	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017511	Split hand, unilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by unilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age.	ORPHA:295120
MONDO:0005519	renal pelvis carcinoma	biolink:Disease	mondo	NCIT:C6142|ICD10:C65|UMLS:C1335749|EFO:0005582|DOID:4919|SCTID:363457009|UMLS:C0153618|ICD9:189.1		carcinoma of kidney pelvis|kidney pelvis carcinoma|renal pelvis cancer|carcinoma of renal pelvis|malignant tumor of renal pelvis|malignant renal pelvis neoplasm|carcinoma of the renal pelvis|kidney renal pelvis cancer|malignant neoplasm of renal pelvis|carcinoma of the kidney pelvis|cancer of renal pelvis|renal pelvis carcinoma	http://purl.obolibrary.org/obo/MONDO_0005519	A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas.	NCIT:C6142|DOID:4919|SNOMEDCT:363457009|UMLS:C1335749|UMLS:C0153618
UBERON:0014371	future telencephalon	biolink:AnatomicalEntity	mondo			presumptive telencephalon	http://purl.obolibrary.org/obo/UBERON_0014371	Embryonic structure that gives rise to the telencephalon.	
MONDO:0005538	proctitis	biolink:Disease	mondo	SCTID:3951002|NCIT:C38011|EFO:0005628|ICD10:K62.89|UMLS:C0033246|MESH:D011349|ICD9:569.49|DOID:3127		rectitis|anus inflammation|inflammation of anus	http://purl.obolibrary.org/obo/MONDO_0005538	An inflammatory process affecting the anus. It is usually caused by sexually transmitted infectious agents and/or inflammatory bowel disease.	NCIT:C38011|UMLS:C0033246|DOID:3127|SNOMEDCT:3951002|MESH:D011349
MONDO:0005537	perianal Crohn disease	biolink:Disease	mondo	EFO:0005627|UMLS:C0341395|SCTID:235796008		perianal Crohn's disease	http://purl.obolibrary.org/obo/MONDO_0005537	An Crohn disease involving a pathogenic inflammatory response in the anal canal.	SNOMEDCT:235796008|UMLS:C0341395
MONDO:0005539	small bowel Crohn disease	biolink:Disease	mondo	EFO:0005629		small bowel Crohn's disease	http://purl.obolibrary.org/obo/MONDO_0005539	An Crohn disease involving a pathogenic inflammatory response in the small intestine.	
GO:0044070	regulation of anion transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0044070	Any process that modulates the frequency, rate or extent of the directed movement of anions, atoms or small molecules with a net negative charge into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
MONDO:0005534	ileocolitis	biolink:Disease	mondo	MedDRA:10062647|EFO:0005624|UMLS:C0949272|DOID:0060190|ICD10:K52.9			http://purl.obolibrary.org/obo/MONDO_0005534	Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon.	UMLS:C0949272|DOID:0060190
MONDO:0005533	distal colitis	biolink:Disease	mondo	ICD9:558.9|UMLS:C0860168|EFO:0005623|SCTID:373639002		left colon inflammation|inflammation of left colon	http://purl.obolibrary.org/obo/MONDO_0005533	Particular variety of ulcerative colitis where only the left half of the colon is inflamed.	SNOMEDCT:373639002|UMLS:C0860168
MONDO:0005536	pancolitis	biolink:Disease	mondo	EFO:0005626		pan-ulcerative colitis|universal colitis	http://purl.obolibrary.org/obo/MONDO_0005536	Ulcerative colitis that involves the entire colon.	
MONDO:0005535	oral Crohn disease	biolink:Disease	mondo	EFO:0005625|UMLS:C0399497|SCTID:196578009		oral Crohn's disease	http://purl.obolibrary.org/obo/MONDO_0005535	Crohn's disease affecting the mouth.	UMLS:C0399497|SNOMEDCT:196578009
MONDO:0005530	opiate dependence	biolink:Disease	mondo	ICD9:304.0|ICD10:F11.2|EFO:0005611|MESH:D009293|ICD9:304.00|DOID:2559|SCTID:75544000		narcotism|opioid dependence|opioid type dependence	http://purl.obolibrary.org/obo/MONDO_0005530	Disorders related or resulting from abuse or mis-use of opioids.	MESH:D009293|SNOMEDCT:75544000|DOID:2559
MONDO:0005532	Crohn's colitis	biolink:Disease	mondo	ICD9:555.1|EFO:0005622|ICD10:K50.1|NCIT:C35211|DOID:0060192		Crohn colitis	http://purl.obolibrary.org/obo/MONDO_0005532	Crohn's disease affecting the colon.	NCIT:C35211|DOID:0060192
MONDO:0005531	morphine dependence	biolink:Disease	mondo	SCTID:231479000|MESH:D009021|DOID:2560|EFO:0005612			http://purl.obolibrary.org/obo/MONDO_0005531	Strong dependence, both physiological and emotional, upon morphine.	MESH:D009021|SNOMEDCT:231479000|DOID:2560
UBERON:0002393	pharyngotympanic tube	biolink:AnatomicalEntity	mondo			tuba pharyngotympanica|internal auditory tube|tuba auditoria|eustachian tube|pharyngo-tympanic tube|auditory tube|tuba auditiva; tuba auditoria; tuba auditivea|tuba auditiva	http://purl.obolibrary.org/obo/UBERON_0002393	Organ with organ cavity which connects the cavity of the middle ear to the cavity of the pharynx. Examples: There are only two pharyngotympanic tubes, the right and the left pharyngotympanic tubes.[FMA]	
CHEBI:35740	liposaccharide	biolink:ChemicalSubstance	mondo			liposaccharides	http://purl.obolibrary.org/obo/CHEBI_35740		
MONDO:0017505	apodia, bilateral	biolink:Disease	mondo	ICD10:Q72.3|Orphanet:295107	ordo_clinical_subtype	congenital absence of foot, bilateral	http://purl.obolibrary.org/obo/MONDO_0017505		ORPHA:295107
UBERON:0002392	nasolacrimal duct	biolink:AnatomicalEntity	mondo			d. nasolacrimalis|tear duct|nasolacrimal duct - posterior naris	http://purl.obolibrary.org/obo/UBERON_0002392	the paired channels leading from the lacrimal sacs to the inferior meatus of the nose, through which tears are conducted through the nasal cavity	
MONDO:0017506	congenital absence/hypoplasia of thumb, unilateral	biolink:Disease	mondo	ICD10:Q71.3|Orphanet:295110	ordo_clinical_subtype	thumb hypodactyly, unilateral|thumb oligodactyly, unilateral	http://purl.obolibrary.org/obo/MONDO_0017506	Congenital absence/hypoplasia of thumb, unilateral is a rare developmental defect during embryogenesis characterized by the unilateral underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb.	ORPHA:295110
MONDO:0017507	congenital absence/hypoplasia of thumb, bilateral	biolink:Disease	mondo	Orphanet:295112|ICD10:Q71.3	ordo_clinical_subtype	thumb oligodactyly, bilateral|thumb hypodactyly, bilateral	http://purl.obolibrary.org/obo/MONDO_0017507	Congenital absence/hypoplasia of thumb, bilateral is a rare developmental defect during embryogenesis characterized by bilateral underdevelopment of the thumbs, ranging from a slight decrease in thumb size to complete absence of the thumbs. This anomaly counts for 20-60% of thumb hypoplasias.	ORPHA:295112
MONDO:0017508	congenital absence/hypoplasia of fingers excluding thumb, bilateral	biolink:Disease	mondo	ICD10:Q71.3|Orphanet:295114	ordo_clinical_subtype	digits 2-5 hypodactyly, bilateral|Adactyly of hand, bilateral|digits 2-5 oligodactyly, bilateral	http://purl.obolibrary.org/obo/MONDO_0017508		ORPHA:295114
UBERON:0002394	bile duct	biolink:AnatomicalEntity	mondo			gall duct|bile tube|hepatic duct|biliary duct	http://purl.obolibrary.org/obo/UBERON_0002394	Any of the ducts that form the biliary tree, carrying bile from the liver to the small intestine.	
MONDO:0017501	congenital absence of both lower leg and foot, bilateral	biolink:Disease	mondo	ICD10:Q72.2|Orphanet:295099|ICD10:Q72.23	ordo_clinical_subtype	tibiofibular terminal transverse meromelia, bilateral	http://purl.obolibrary.org/obo/MONDO_0017501		ORPHA:295099
MONDO:0017502	acheiria, unilateral	biolink:Disease	mondo	Orphanet:295101|ICD10:Q71.3	ordo_clinical_subtype	congenital absence of hand, unilateral	http://purl.obolibrary.org/obo/MONDO_0017502		ORPHA:295101|UMLS:C0685393
MONDO:0017503	acheiria, bilateral	biolink:Disease	mondo	Orphanet:295103|ICD10:Q71.3|SCTID:371189003	ordo_clinical_subtype	congenital absence of hand, bilateral	http://purl.obolibrary.org/obo/MONDO_0017503		ORPHA:295103|SNOMEDCT:371189003|UMLS:C0685394
UBERON:0002391	lymph	biolink:AnatomicalEntity	mondo			lympha	http://purl.obolibrary.org/obo/UBERON_0002391	Lymph is the fluid that is formed when interstitial fluid enters the conduits of the lymphatic system through lymph capillaries[WP].	
UBERON:0002390	hematopoietic system	biolink:AnatomicalEntity	mondo			hemopoietic system|haematopoietic system|haematological system|hematological system|organa haemopoietica|hematolymphoid system|haemopoietic system|Blutbildungssystem	http://purl.obolibrary.org/obo/UBERON_0002390	Anatomical system that is involved in the production of hematopoietic cells.	
MONDO:0017504	apodia, unilateral	biolink:Disease	mondo	Orphanet:295105|ICD10:Q72.3	ordo_clinical_subtype	congenital absence of foot, unilateral	http://purl.obolibrary.org/obo/MONDO_0017504		ORPHA:295105
MONDO:0017500	congenital absence of both lower leg and foot, unilateral	biolink:Disease	mondo	ICD10:Q72.2|Orphanet:295097	ordo_clinical_subtype	tibiofibular terminal transverse meromelia, unilateral	http://purl.obolibrary.org/obo/MONDO_0017500		ORPHA:295097
UBERON:0002397	maxilla	biolink:AnatomicalEntity	mondo			upper jaw bone|maxillae|maxillary bone	http://purl.obolibrary.org/obo/UBERON_0002397	The bone which normally forms the lateral upper jaw in osteichthyans, including tetrapods.	
GO:0093001	glycolysis from storage polysaccharide through glucose-1-phosphate	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0093001	The chemical reactions and pathways resulting in the breakdown of a storage polysaccharide into pyruvate through a glucose-1-phosphate intermediate, with the concomitant production of a small amount of ATP and the reduction of NAD to NADH.	
rdfs:seeAlso	seeAlso	biolink:OntologyClass	mondo	http://www.w3.org/2000/01/rdf-schema#seeAlso			http://www.w3.org/2000/01/rdf-schema#seeAlso		
UBERON:0002398	manus	biolink:AnatomicalEntity	mondo			forefoot of quadruped|fore foot|fore paw|hand region|forelimb autopod|forefeet|forefoot|forepaw|hand|forelimb autopodium|terminal segment of free upper limb|fore-paw	http://purl.obolibrary.org/obo/UBERON_0002398	distal segment of the fore limb, including carpal region, metacarpal region and digits.	
GO:0044085	cellular component biogenesis	biolink:OntologyClass	mondo			cellular component biogenesis at cellular level	http://purl.obolibrary.org/obo/GO_0044085	A process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component. Includes biosynthesis of constituent macromolecules, and those macromolecular modifications that are involved in synthesis or assembly of the cellular component.	
MONDO:0005505	dysembryoplastic neuroepithelial tumor	biolink:Disease	mondo	GARD:0010640|ICDO:9413/0|EFO:0005551|Orphanet:251946|SCTID:87211000119104|UMLS:C1266177|NCIT:C9505|ONCOTREE:DNT|DOID:2679	ordo_disease|gard_rare	dysembryoplastic neuroepithelial neoplasm|dysembryoplastic neuroepithelial tumor (morphologic abnormality)|DNET|DNT	http://purl.obolibrary.org/obo/MONDO_0005505	A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface.B	SNOMEDCT:87211000119104|DOID:2679|ORPHA:251946|UMLS:C1266177|NCIT:C9505
MONDO:0005504	diphtheria	biolink:Disease	mondo	SCTID:397428000|ICD9:032.9|COHD:434568|ICD10:A36|ICD9:032|NCIT:C34541|ICD10:A36.9|ICD10:A36.8|MESH:D004165|DOID:11405|ICD10:A36.3|Orphanet:1679|ICD10:A36.2|EFO:0005549|ICD10:A36.1|MedDRA:10013023|UMLS:C0012546|ICD10:A36.0|GARD:0001875	ordo_disease|gard_rare	Corynebacterium infection	http://purl.obolibrary.org/obo/MONDO_0005504	A Gram-positive bacterial infection caused by Corynebacterium diphtheriae. It usually involves the oral cavity, pharynx, and nasal cavity. Patients develop pseudomembranes in the affected areas and manifest signs and symptoms of an upper respiratory infection. The diphtheria toxin may cause myocarditis, polyneuritis, and other systemic effects.	UMLS:C0012546|MESH:D004165|DOID:11405|MEDDRA:10013023|SNOMEDCT:397428000|NCIT:C34541|ORPHA:1679
MONDO:0005507	gingival cancer	biolink:Disease	mondo	EFO:0005557|ICD10:C03.9|UMLS:C0153364|MedDRA:10067807|NCIT:C9317|SCTID:363382005|ICD9:143.8|ICD9:143|ICD10:C03|DOID:8602|ICD9:143.9		malignant tumour of gingiva|malignant gingival neoplasm|malignant tumor of the gingiva|malignant tumor of gingiva|gingiva cancer|gum cancer|malignant neoplasm of gum|malignant neoplasm of other sites of gum|cancer of gingiva|malignant gingival tumor|malignant gingiva neoplasm|malignant neoplasm of the gum|malignant gum tumor|malignant neoplasm of gingiva|malignant tumor of the gum|malignant neoplasm of the gingiva|malignant gum neoplasm|malignant tumor of gum	http://purl.obolibrary.org/obo/MONDO_0005507	A primary or metastatic malignant neoplasm that affects the gums.	UMLS:C0153364|SNOMEDCT:363382005|DOID:8602|NCIT:C9317
MONDO:0005506	eccrine sweat gland cancer	biolink:Disease	mondo	NCIT:C5559|EFO:0005553|UMLS:C1334577|DOID:4921		malignant eccrine neoplasm of skin|malignant eccrine neoplasm of the skin|malignant eccrine skin tumor|malignant eccrine tumor of skin|malignant eccrine tumor of the skin|eccrine sweat gland cancer|malignant eccrine neoplasm|cancer of eccrine sweat gland|malignant eccrine sweat gland neoplasm|malignant eccrine tumor|malignant eccrine skin neoplasm|malignant neoplasm of eccrine sweat gland	http://purl.obolibrary.org/obo/MONDO_0005506	An cancer with eccrine differentiation arising from the sweat glands.B	DOID:4921|NCIT:C5559|UMLS:C1334577
MONDO:0005501	congenital disorder of glycosylation type II	biolink:Disease	mondo	MESH:C535747|EFO:0005546|DOID:0050571|OMIMPS:212066		MGAT2-CDG|MGAT2-CDG (CDG-2a)|MOGS-CDG|B4GALT1-CDG|congenital disorders of glycosylation, type II|MOGS-CDG (CDG-2b)|B4GALT1-CDG (CDG-2d)	http://purl.obolibrary.org/obo/MONDO_0005501	A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain.	MESH:C535747|DOID:0050571
MONDO:0005500	congenital disorder of glycosylation type I	biolink:Disease	mondo	OMIMPS:212065|EFO:0005545|DOID:0050570		MPDU1-CDG (CDG-1f)|PMM2-CDG (CDG-1a)|MPI-CDG|SRD5A3-CDG (CDG-1q)|ALG2-CDG|ALG12-CDG (CDG-1g)|ALG1-CDG|ALG8-CDG (CDG-1h)|DPM1-CDG (CDG-1e)|DPM2-CDG (CDG-1u)|DOLK-CDG (CDG-1m)|DPM3-CDG|PMM2-CDG|SRD5A3-CDG|RFT1-CDG|DPM2-CDG|MPI-CDG (CDG-1b)|DPM1-CDG|congenital disorders of glycosylation, type I|DPAGT1-CDG (CDG-1j)|ALG9-CDG (CDG-1l)|DPAGT1-CDG|ALG3-CDG (CDG-1d)|MPDU1-CDG|ALG12-CDG|ALG11-CDG (CDG-1p)|ALG9-CDG|ALG11-CDG|ALG8-CDG|ALG6-CDG (CDG-1c)|ALG2-CDG (CDG-1i)|ALG6-CDG|DOLK-CDG|RFT1-CDG (CDG-1n)|ALG1-CDG (CDG-1k)|DPM3-CDG (CDG-1o)|ALG3-CDG	http://purl.obolibrary.org/obo/MONDO_0005500	A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor.	DOID:0050570
MONDO:0005503	developmental disorder of mental health	biolink:Disease	mondo	SCTID:129104009|DOID:0060037|EFO:0005548|ICD9:315.8		developmental mental disorder	http://purl.obolibrary.org/obo/MONDO_0005503	A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.	DOID:0060037|SNOMEDCT:129104009
MONDO:0005502	dengue disease	biolink:Disease	mondo	ICD10:A97.2|ICD10:A97.1|ICD10:A97.0|GARD:0006254|MESH:D003715|UMLS:C0011311|ICD10:A90|NCIT:C34528|ICD10:A97.9|Orphanet:99828|ICD9:061|DOID:12205|MedDRA:10012310|EFO:0005547|SCTID:38362002	ordo_disease	Dengue virus infectious disease|Dengue virus caused disease or disorder|Dengue|Dengue fever|break bone fever|Thai hemorrhagic fever|classical dengue|classic dengue|DF|breakbone fever|hemorrhagic dengue|Singapore hemorrhagic fever|Dengue virus infection|Dengue virus disease or disorder|Philippine hemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0005502	Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS).	UMLS:C0011311|SNOMEDCT:38362002|DOID:12205|MEDDRA:10012310|MESH:D003715|ORPHA:99828|NCIT:C34528
GO:0044089	positive regulation of cellular component biogenesis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0044089	Any process that activates or increases the frequency, rate or extent of cellular component biogenesis, a process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component.	
CHEBI:35718	antifungal agent	biolink:ChemicalSubstance	mondo			antifungals|antifungal drug|antifungal agents|antifungal drugs|antifungal	http://purl.obolibrary.org/obo/CHEBI_35718	An  antimicrobial agent that destroys fungi by suppressing their ability to grow or reproduce.	
GO:0044087	regulation of cellular component biogenesis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0044087	Any process that modulates the frequency, rate or extent of cellular component biogenesis, a process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component.	
UBERON:0002384	connective tissue	biolink:AnatomicalEntity	mondo			portion of connective tissue|Bindegewebe|textus connectivus	http://purl.obolibrary.org/obo/UBERON_0002384	Tissue with cells that deposit non-polarized extracellular matrix including connective tissue fibers and ground substance.	
UBERON:0002389	manual digit	biolink:AnatomicalEntity	mondo			hand digit|forelimb digit|fore digit|finger|manual digit (phalangeal portion) plus soft tissue|digit of hand|digitus manus|digit of manus	http://purl.obolibrary.org/obo/UBERON_0002389	A digit that is part of a manus (hand).	
UBERON:0002386	forelimb zeugopod	biolink:AnatomicalEntity	mondo			zeugopod of forelimb|zeugopod of brachial region|antebrachium|antebrachial region|forelimb epipodium|arm zeugopod|middle limb segment of forelimb|brachial region middle limb segment|middle limb segment of proximal segment of free upper limb|antebrachium|middle limb segment of arm|zeugopod of proximal segment of free upper limb|fore epipodium|zeugopod of arm|forearm|lower segment of arm|intermediate segment of free upper limb|wing zeugopod|brachial region zeugopod|antibrachium|lower arm|middle limb segment of brachial region|forelimb zeugopodium|regio antebrachialis|arm middle limb segment|forelimb zygopod	http://purl.obolibrary.org/obo/UBERON_0002386	The middle limb segment of the pectoral free limb, between the autopod and stylopod segments. Includes as parts the forelimb zeugopodial skeleton, which includes as parts the radius and ulna, or their cartilage precursors, or evolutionary variants.	
UBERON:0002385	muscle tissue	biolink:AnatomicalEntity	mondo			muscular tissue|portion of muscle tissue|textus muscularis	http://purl.obolibrary.org/obo/UBERON_0002385	Muscle tissue is a contractile tissue made up of actin and myosin fibers[GO].	
UBERON:0002387	pes	biolink:AnatomicalEntity	mondo			hind limb autopodium|hindfoot|hindfeet|hind-paw|hindpaw|hind paw|hindlimb autopodium|hindlimb distal free limb segment|hindlimb autopod|pes|foot|terminal segment of free lower limb|hind foot|hindfoot of quadruped	http://purl.obolibrary.org/obo/UBERON_0002387	distal portion of the hind limb, including tarsal region, metatarsal region and digits.	
MONDO:0005516	osteochondrodysplasia	biolink:Disease	mondo	NCIT:C84978|DOID:2256|ICD9:756.4|SCTID:105985007|UMLS:C0029422|ICD10:Q78.9|EFO:0005571|GARD:0006051|MESH:D010009		osteochondrodysplasia|congenital anomaly of cartilage|osteochondrodysplasia syndrome|skeletal dysplasia|congenital skeletal dysplasia|cartilage development disorder|chondrodystrophy	http://purl.obolibrary.org/obo/MONDO_0005516	A term referring to disorders characterized by abnormalities in the development of bones and cartilage.	MESH:D010009|DOID:2256|UMLS:C0029422|NCIT:C84978|SNOMEDCT:105985007
MONDO:0005515	oral cavity cancer	biolink:Disease	mondo	NCIT:C9314|SCTID:363505006|ICD9:145.8|ICD10:C04.9|ICD9:144.9|COHD:25189|EFO:0005570|ICD9:144|ICD9:144.1|ICD10:C04.1|ICD9:144.0|ICD9:145.9|ICD10:C04.0|DOID:8618|ICD10:C04|ICD9:149.8		malignant neoplasm of lateral floor of mouth|malignant tumor of the mouth|malignant mouth neoplasm|oral cavity cancer|malignant tumor of mouth|malignant tumor of anterior floor of mouth|malignant tumor of lateral floor of mouth|malignant neoplasm of anterior portion of floor of mouth|malignant tumor of the floor of the mouth|cancer of oral cavity|malignant neoplasm of lateral portion of floor of mouth|malignant neoplasm of floor of mouth|mouth cancer|malignant neoplasm of the mouth|malignant tumor of oral cavity|malignant oral cavity tumor|malignant neoplasm of mouth|malignant mouth tumor|malignant neoplasm of oral cavity|malignant oral cavity neoplasm	http://purl.obolibrary.org/obo/MONDO_0005515	A primary or metastatic malignant neoplasm involving the oral cavity. The majority are squamous cell carcinomas.	SNOMEDCT:363505006|DOID:8618|NCIT:C9314
GO:0071692	protein localization to extracellular region	biolink:OntologyClass	mondo			protein localization in extracellular region|protein localisation in extracellular region	http://purl.obolibrary.org/obo/GO_0071692	Any process in which a protein is transported from one specific location in the extracellular region to another, or maintained in a specific extracellular location.	
MONDO:0005518	pseudohermaphroditism	biolink:Disease	mondo	COHD:73584|Wikipedia:Pseudohermaphroditism|SCTID:75164001|ICD9:752.7|DOID:3765|ICD10:Q56.3|ICD10:Q56|NCIT:C124575|EFO:0005579		indeterminate sex and pseudohermaphroditism	http://purl.obolibrary.org/obo/MONDO_0005518	A condition consisting of possessing the internal reproductive organs of one sex while exhibiting some of the secondary sex characteristics of the opposite sex.	DOID:3765|NCIT:C124575|SNOMEDCT:75164001
MONDO:0005517	pharynx cancer	biolink:Disease	mondo	EFO:0005577|DOID:0060119|NCIT:C7545|MESH:D010610		malignant tumor of the pharynx|malignant tumor of pharynx|pharyngeal cancer|malignant pharynx neoplasm|cancer of pharynx|malignant neoplasm of chordate pharynx|pharynx cancer|pharynx neoplasm|malignant pharyngeal neoplasm|pharyngeal neoplasm|malignant pharynx tumor|malignant neoplasm of pharynx|cancer of chordate pharynx|malignant pharyngeal tumor|chordate pharynx cancer|malignant chordate pharynx neoplasm	http://purl.obolibrary.org/obo/MONDO_0005517	A primary or metastatic malignant neoplasm that affects the pharynx.	NCIT:C7545|DOID:0060119|MESH:D010610
MONDO:0005512	malignant peritoneal mesothelioma	biolink:Disease	mondo	MedDRA:10056558|DOID:1788|NCIT:C8704|ICD10:C45.1|Orphanet:168811|EFO:0005567	ordo_disease	advanced malignant mesothelioma of the peritoneum|diffuse malignant peritoneal mesothelioma|malignant peritoneal mesothelioma, advanced|primary malignant peritoneal mesothelioma|advanced malignant peritoneal mesothelioma|advanced peritoneal malignant mesothelioma|peritoneal mesothelioma|peritoneal mesothelioma (disease), malignant|malignant mesothelioma of peritoneum|advanced malignant mesothelioma of peritoneum|malignant mesothelioma (disease) of peritoneum|peritoneum malignant mesothelioma (disease)	http://purl.obolibrary.org/obo/MONDO_0005512	An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites.	MEDDRA:10056558|DOID:1788|UMLS:C0346109|ORPHA:168811|NCIT:C8704
GO:0044092	negative regulation of molecular function	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0044092	Any process that stops or reduces the rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding.	
GO:0044093	positive regulation of molecular function	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0044093	Any process that activates or increases the rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding.	
MONDO:0005511	janus kinase-3 deficiency	biolink:Disease	mondo	DOID:0060008|Wikipedia:Janus_kinase_3_deficiency|EFO:0005565			http://purl.obolibrary.org/obo/MONDO_0005511	Deficiency of janus kinase-3 causing the near absence of T lymphocytes and Natural killer cells; and normal or elevated B lymphocytes due to an autosomal recessive variant of severe combined immunodeficiency.	DOID:0060008
MONDO:0005514	nanophthalmia	biolink:Disease	mondo	OMIMPS:600165|DOID:0080634|Orphanet:35612|SCTID:716775009	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0005514	Nanophthalmia is a severe form of microphthalmia characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.	ORPHA:35612|SNOMEDCT:716775009|DOID:0080634
MONDO:0005513	obsolete methylmalonic aciduria and homocystinuria type cblE	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005513		
CL:2000000	epidermal melanocyte	biolink:Cell	mondo				http://purl.obolibrary.org/obo/CL_2000000	Any melanocyte that is part of a epidermis.	
MONDO:0005510	hydronephrosis	biolink:Disease	mondo	NCIT:C26796|EFO:0005562|DOID:11111|SCTID:43064006|UMLS:C0020295|ICD9:591|ICD10:N13.30|COHD:433811|MESH:D006869			http://purl.obolibrary.org/obo/MONDO_0005510	Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces. It is caused by obstruction of urine flow, nephrolithiasis, or vesicoureteral reflux. Signs and symptoms include flank pain, nausea, vomiting, fever, and dysuria.	DOID:11111|MESH:D006869|NCIT:C26796|UMLS:C0020295|SNOMEDCT:43064006
UBERON:0002371	bone marrow	biolink:AnatomicalEntity	mondo			medulla ossium|medulla ossea|medulla of bone|medullary bone	http://purl.obolibrary.org/obo/UBERON_0002371	the soft tissue that fills the cavities of bones	
UBERON:0002370	thymus	biolink:AnatomicalEntity	mondo			thymus gland|thymus organ	http://purl.obolibrary.org/obo/UBERON_0002370	Anatomical structure of largely lymphoid tissue that functions in cell-mediated immunity by being the site where T cells develop.	
UBERON:0002373	palatine tonsil	biolink:AnatomicalEntity	mondo			tonsil|faucial tonsil|tonsilla palatina|Gaumenmandel@de	http://purl.obolibrary.org/obo/UBERON_0002373	tonsils on the left and right sides at the back of the throat. one of the mucosa-associated lymphoid tissues (MALT), located at the entrance to the upper respiratory and gastrointestinal tracts to protect the body from the entry of exogenous material through mucosal sites[WP].	
UBERON:0002372	tonsil	biolink:AnatomicalEntity	mondo			Mandel	http://purl.obolibrary.org/obo/UBERON_0002372	either of the two small almond-shaped masses of lymph tissue found on either side of the oropharynx	
UBERON:0002378	muscle of abdomen	biolink:AnatomicalEntity	mondo			abdominal wall musculature|abdominal wall muscle|abdomen muscle organ|abdomen muscle|abdominal muscle|muscle organ of abdomen	http://purl.obolibrary.org/obo/UBERON_0002378	Muscle (organ) which is a part of the abdomen. Examples: external oblique, rectus abdominis.	
MONDO:0005509	histiocytoma	biolink:Disease	mondo	SCTID_2010_1_31:154614002|SCTID_2010_1_31:128741006|MESH:D051642|SCTID_2010_1_31:72079004|ICDO:8831/0|NCIT:C35765|SCTID_2010_1_31:302843004|EFO:0005561|DOID:4231|SCTID_2010_1_31:189773000|UMLS:C1509147		histiocytoma	http://purl.obolibrary.org/obo/MONDO_0005509	A mesenchymal tumor composed of fibroblastic and histiocytic cells.	NCIT:C35765|DOID:4231|MESH:D051642|UMLS:C1509147
UBERON:0002374	metacarpal bone	biolink:AnatomicalEntity	mondo			metacarpal	http://purl.obolibrary.org/obo/UBERON_0002374	A bone that is part of the metacarpal skeleton.	
MONDO:0005508	hereditary multiple osteochondromas	biolink:Disease	mondo	DC:0000143|MESH:D005097|UMLS:CN204014|DOID:206|NCIT:C5183|Orphanet:321|EFO:0005560|GARD:0007035|SCTID:716742001|SCTID:254044004|ICD10:Q78.6	ordo_disease|gard_rare	multiple cartilaginous exostoses|exostoses, multiple|multiple exostoses|multiple congenital exostosis|EXT|hereditary multiple exostoses 3|HMO|hereditary multiple exostoses 2|hereditary multiple exostoses 1|multiple exostosis syndromes|hereditary multiple exostoses|osteochondromatosis syndrome (disorder) [ambiguous]|multiple ostechondromas|osteochondromatosis syndrome|Bessel-Hagen disease|hereditary multiple exostosis	http://purl.obolibrary.org/obo/MONDO_0005508	Multiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones.	ORPHA:321|SNOMEDCT:716742001|SNOMEDCT:254044004|MESH:D005097|NCIT:C5183|UMLS:CN204014|DOID:206
GO:0071696	ectodermal placode development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0071696	The progression of an ectodermal placode over time from its initial formation until its mature state. An ectodermal placode is a thickening of the ectoderm that is the primordium of many structures derived from the ectoderm.	
UBERON:0002377	muscle of neck	biolink:AnatomicalEntity	mondo			muscle organ of neck (volume)|neck (volume) muscle organ|muscle organ of neck|neck muscle organ|neck muscle	http://purl.obolibrary.org/obo/UBERON_0002377	Any muscle that is part of the cervical (neck) region.	
GO:0071695	anatomical structure maturation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0071695	A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure to attain its fully functional state.	
UBERON:0002376	cranial muscle	biolink:AnatomicalEntity	mondo			head muscles|muscle organ of head|muscle of head|cephalic musculature|cranial muscle|cephalic muscle|adult head muscle organ|head muscle organ|head muscle|muscle organ of adult head|musculus caput	http://purl.obolibrary.org/obo/UBERON_0002376	Any skeletal muscle that is part of the head region.	
HGNC:757	ASPH	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/757		
HGNC:756	ASPA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/756		
HGNC:753	ASNS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/753		
GO:0010888	negative regulation of lipid storage	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010888	Any process that decreases the rate, frequency or extent of lipid storage. Lipid storage is the accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development.	
GO:0010889	regulation of sequestering of triglyceride	biolink:OntologyClass	mondo			regulation of triacylglycerol sequestration|regulation of sequestering of triacylglycerol	http://purl.obolibrary.org/obo/GO_0010889	Any process that modulates the rate, frequency or extent of sequestering of triglyceride. Triglyceride sequestration is the process of binding or confining any triester of glycerol such that it is separated from other components of a biological system.	
GO:0009891	positive regulation of biosynthetic process	biolink:OntologyClass	mondo			up regulation of biosynthetic process|stimulation of biosynthetic process|activation of biosynthetic process|up-regulation of biosynthetic process|positive regulation of anabolism|upregulation of biosynthetic process|positive regulation of synthesis|positive regulation of formation|positive regulation of biosynthesis	http://purl.obolibrary.org/obo/GO_0009891	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances.	
GO:0009892	negative regulation of metabolic process	biolink:OntologyClass	mondo			down regulation of metabolic process|negative regulation of multicellular organismal metabolic process|inhibition of organismal metabolic process|negative regulation of organismal metabolism|downregulation of metabolic process|inhibition of metabolic process|negative regulation of metabolism|down-regulation of metabolic process	http://purl.obolibrary.org/obo/GO_0009892	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism.	
GO:0009893	positive regulation of metabolic process	biolink:OntologyClass	mondo			upregulation of metabolic process|positive regulation of metabolism|up-regulation of metabolic process|positive regulation of multicellular organismal metabolic process|up-regulation of organismal metabolic process|up regulation of metabolic process|activation of metabolic process|positive regulation of organismal metabolism|stimulation of organismal metabolic process|stimulation of metabolic process	http://purl.obolibrary.org/obo/GO_0009893	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism.	
GO:0009894	regulation of catabolic process	biolink:OntologyClass	mondo			regulation of degradation|regulation of catabolism|regulation of breakdown	http://purl.obolibrary.org/obo/GO_0009894	Any process that modulates the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of substances.	
GO:0046849	bone remodeling	biolink:OntologyClass	mondo			bone remodelling	http://purl.obolibrary.org/obo/GO_0046849	The continuous turnover of bone matrix and mineral that involves first, an increase in resorption (osteoclastic activity) and later, reactive bone formation (osteoblastic activity). The process of bone remodeling takes place in the adult skeleton at discrete foci. The process ensures the mechanical integrity of the skeleton throughout life and plays an important role in calcium homeostasis. An imbalance in the regulation of bone resorption and bone formation results in many of the metabolic bone diseases, such as osteoporosis.	
GO:0019218	regulation of steroid metabolic process	biolink:OntologyClass	mondo			regulation of steroid metabolism	http://purl.obolibrary.org/obo/GO_0019218	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving steroids.	
GO:0009895	negative regulation of catabolic process	biolink:OntologyClass	mondo			negative regulation of breakdown|down-regulation of catabolic process|negative regulation of catabolism|down regulation of catabolic process|inhibition of catabolic process|negative regulation of degradation|downregulation of catabolic process	http://purl.obolibrary.org/obo/GO_0009895	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances.	
GO:0010884	positive regulation of lipid storage	biolink:OntologyClass	mondo			positive regulation of lipid sequestration	http://purl.obolibrary.org/obo/GO_0010884	Any process that increases the rate, frequency or extent of lipid storage. Lipid storage is the accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development.	
GO:0009896	positive regulation of catabolic process	biolink:OntologyClass	mondo			up regulation of catabolic process|activation of catabolic process|stimulation of catabolic process|upregulation of catabolic process|positive regulation of degradation|positive regulation of catabolism|up-regulation of catabolic process|positive regulation of breakdown	http://purl.obolibrary.org/obo/GO_0009896	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances.	
GO:0019219	regulation of nucleobase-containing compound metabolic process	biolink:OntologyClass	mondo			regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism|regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	http://purl.obolibrary.org/obo/GO_0019219	Any cellular process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids.	
GO:0019216	regulation of lipid metabolic process	biolink:OntologyClass	mondo			regulation of lipid metabolism	http://purl.obolibrary.org/obo/GO_0019216	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipids.	
GO:0019217	regulation of fatty acid metabolic process	biolink:OntologyClass	mondo			regulation of fatty acid metabolism	http://purl.obolibrary.org/obo/GO_0019217	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving fatty acids.	
GO:0010883	regulation of lipid storage	biolink:OntologyClass	mondo			regulation of lipid sequestration	http://purl.obolibrary.org/obo/GO_0010883	Any process that modulates the rate, frequency or extent of lipid storage. Lipid storage is the accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development.	
GO:0007249	I-kappaB kinase/NF-kappaB signaling	biolink:OntologyClass	mondo			NF-kappaB cascade|I-kappaB kinase/NF-kappaB cascade|canonical NF-kappaB signaling cascade|p50-dependent NF-kappaB signaling|I-kappaB kinase/NF-kappaB signal transduction|activation of the inhibitor of kappa kinase	http://purl.obolibrary.org/obo/GO_0007249	The process in which a signal is passed on to downstream components within the cell through the I-kappaB-kinase (IKK)-dependent activation of NF-kappaB. The cascade begins with activation of a trimeric IKK complex (consisting of catalytic kinase subunits IKKalpha and/or IKKbeta, and the regulatory scaffold protein NEMO) and ends with the regulation of transcription of target genes by NF-kappaB. In a resting state, NF-kappaB dimers are bound to I-kappaB proteins, sequestering NF-kappaB in the cytoplasm. Phosphorylation of I-kappaB targets I-kappaB for ubiquitination and proteasomal degradation, thus releasing the NF-kappaB dimers, which can translocate to the nucleus to bind DNA and regulate transcription.	
GO:0046852	positive regulation of bone remodeling	biolink:OntologyClass	mondo			activation of bone remodeling|stimulation of bone remodeling|upregulation of bone remodeling|up-regulation of bone remodeling|up regulation of bone remodeling	http://purl.obolibrary.org/obo/GO_0046852	Any process that activates or increases the frequency, rate or extent of bone remodeling.	
GO:0046851	negative regulation of bone remodeling	biolink:OntologyClass	mondo			down-regulation of bone remodeling|down regulation of bone remodeling|inhibition of bone remodeling|downregulation of bone remodeling	http://purl.obolibrary.org/obo/GO_0046851	Any process that stops, prevents, or reduces the frequency, rate or extent of bone remodeling.	
GO:0046850	regulation of bone remodeling	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0046850	Any process that modulates the frequency, rate or extent of bone remodeling, the processes of bone formation and resorption that combine to maintain skeletal integrity.	
GO:0010891	negative regulation of sequestering of triglyceride	biolink:OntologyClass	mondo			negative regulation of sequestering of triacylglycerol|negative regulation of triglyceride sequestration	http://purl.obolibrary.org/obo/GO_0010891	Any process that decreases the rate, frequency or extent of sequestering of triglyceride. Triglyceride sequestration is the process of binding or confining any triester of glycerol such that it is separated from other components of a biological system.	
GO:0010890	positive regulation of sequestering of triglyceride	biolink:OntologyClass	mondo			positive regulation of sequestering of triacylglycerol|positive regulation of triglyceride sequestration	http://purl.obolibrary.org/obo/GO_0010890	Any process that increases the rate, frequency or extent of sequestering of triglyceride. Triglyceride sequestration is the process of binding or confining any triester of glycerol such that it is separated from other components of a biological system.	
GO:0019229	regulation of vasoconstriction	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0019229	Any process that modulates the frequency, rate or extent of reductions in the diameter of blood vessels.	
GO:0010893	positive regulation of steroid biosynthetic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010893	Any process that increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus.	
GO:0010894	negative regulation of steroid biosynthetic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010894	Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus.	
GO:0019226	transmission of nerve impulse	biolink:OntologyClass	mondo			conduction of nerve impulse|signal transmission along a neuron	http://purl.obolibrary.org/obo/GO_0019226	The neurological system process in which a signal is transmitted through the nervous system by a combination of action potential propagation and synaptic transmission.	
GO:0019221	cytokine-mediated signaling pathway	biolink:OntologyClass	mondo			cytokine and chemokine mediated signaling pathway|cytokine mediated signalling pathway	http://purl.obolibrary.org/obo/GO_0019221	A series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription.	
GO:0019222	regulation of metabolic process	biolink:OntologyClass	mondo			regulation of multicellular organismal metabolic process|regulation of metabolism|regulation of organismal metabolic process	http://purl.obolibrary.org/obo/GO_0019222	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism.	
SO:0001235	replicon	biolink:SequenceFeature	mondo				http://purl.obolibrary.org/obo/SO_0001235	A region containing at least one unique origin of replication and a unique termination site.	
CHEBI:59698	phosphoric acids	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_59698	Compounds containing one or more phosphoric acid units.	
CHEBI:72695	organic molecule	biolink:ChemicalSubstance	mondo			organic compound|organic molecules|organic compounds	http://purl.obolibrary.org/obo/CHEBI_72695	Any molecule that consists of at least one carbon atom as part of the electrically neutral entity.	
HGNC:758	ASS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/758		
GO:0019220	regulation of phosphate metabolic process	biolink:OntologyClass	mondo			regulation of phosphate metabolism	http://purl.obolibrary.org/obo/GO_0019220	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphates.	
HGNC:735	ASAH1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/735		
SO:0001272	tRNA_gene	biolink:SequenceFeature	mondo			tRNA gene	http://purl.obolibrary.org/obo/SO_0001272	A noncoding RNA that binds to a specific amino acid to allow that amino acid to be used by the ribosome during translation of RNA.	
GO:0007215	glutamate receptor signaling pathway	biolink:OntologyClass	mondo			glutamate signalling pathway|glutamate signaling pathway	http://purl.obolibrary.org/obo/GO_0007215	A series of molecular signals initiated by the binding of glutamate to a glutamate receptor on the surface of a target cell, and ending with regulation of a downstream cellular process, e.g. transcription.	
GO:0071829	plasma lipoprotein particle disassembly	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0071829	The disaggregation of a plasma lipoprotein particle into its constituent components.	
GO:0071827	plasma lipoprotein particle organization	biolink:OntologyClass	mondo			plasma lipoprotein particle organisation	http://purl.obolibrary.org/obo/GO_0071827	A protein-lipid complex subunit organization process that results in the formation, disassembly, or alteration of a plasma lipoprotein particle. A plasma lipoprotein particle is a spherical particle with a hydrophobic core of triglycerides and/or cholesterol esters, surrounded by an amphipathic monolayer of phospholipids, cholesterol and apolipoproteins.	
GO:0071826	ribonucleoprotein complex subunit organization	biolink:OntologyClass	mondo			protein-RNA complex subunit organization|RNA-protein complex subunit organization|ribonucleoprotein complex subunit organisation	http://purl.obolibrary.org/obo/GO_0071826	Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a ribonucleoprotein complex.	
GO:0071825	protein-lipid complex subunit organization	biolink:OntologyClass	mondo			protein-lipid complex subunit organisation	http://purl.obolibrary.org/obo/GO_0071825	Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a protein-lipid complex.	
GO:0022857	transmembrane transporter activity	biolink:OntologyClass	mondo			uptake permease activity|substrate-specific transmembrane transporter activity|uptake transmembrane transporter activity|substrate-specific transporter activity	http://purl.obolibrary.org/obo/GO_0022857	Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other.	
SO:0001268	snRNA_gene	biolink:SequenceFeature	mondo			snRNA gene|small nuclear RNA gene	http://purl.obolibrary.org/obo/SO_0001268	A gene that encodes a small nuclear RNA.	
SO:0001265	miRNA_gene	biolink:SequenceFeature	mondo			stRNA gene|stRNA_gene|miRNA gene	http://purl.obolibrary.org/obo/SO_0001265	A small noncoding RNA of approximately 22 nucleotides in length which may be involved in regulation of gene expression.	
HGNC:746	ASL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/746		
SO:0001267	snoRNA_gene	biolink:SequenceFeature	mondo			snoRNA gene	http://purl.obolibrary.org/obo/SO_0001267	A small noncoding RNA that guides chemical modification of other RNAs.	
SO:0001260	sequence_collection	biolink:SequenceFeature	mondo			sequence collection	http://purl.obolibrary.org/obo/SO_0001260	A collection of discontinuous sequences.	
SO:0001263	ncRNA_gene	biolink:SequenceFeature	mondo			non-coding RNA gene|ncRNA gene	http://purl.obolibrary.org/obo/SO_0001263	A gene that encodes a non-coding RNA.	
GO:0010877	lipid transport involved in lipid storage	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010877	The directed movement of lipids into cells that is part of their accumulation and maintenance.	
GO:0044212		biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0044212		
GO:0010876	lipid localization	biolink:OntologyClass	mondo			lipid localisation	http://purl.obolibrary.org/obo/GO_0010876	Any process in which a lipid is transported to, or maintained in, a specific location.	
GO:0046873	metal ion transmembrane transporter activity	biolink:OntologyClass	mondo			heavy metal ion transporter activity|high affinity metal ion uptake transporter activity|low affinity metal ion uptake transporter activity|heavy metal-exporting ATPase activity|heavy metal ion porter activity|heavy metal ion:hydrogen symporter activity	http://purl.obolibrary.org/obo/GO_0046873	Enables the transfer of metal ions from one side of a membrane to the other.	
GO:0009890	negative regulation of biosynthetic process	biolink:OntologyClass	mondo			negative regulation of formation|downregulation of biosynthetic process|down regulation of biosynthetic process|inhibition of biosynthetic process|down-regulation of biosynthetic process|negative regulation of biosynthesis|negative regulation of anabolism|negative regulation of synthesis	http://purl.obolibrary.org/obo/GO_0009890	Any process that stops, prevents, or reduces the rate of the chemical reactions and pathways resulting in the formation of substances.	
GO:0046879	hormone secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0046879	The regulated release of hormones, substances with a specific regulatory effect on a particular organ or group of cells.	
GO:0009887	animal organ morphogenesis	biolink:OntologyClass	mondo			histogenesis and organogenesis	http://purl.obolibrary.org/obo/GO_0009887	Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions.	
GO:0009888	tissue development	biolink:OntologyClass	mondo			histogenesis and organogenesis|histogenesis	http://purl.obolibrary.org/obo/GO_0009888	The process whose specific outcome is the progression of a tissue over time, from its formation to the mature structure.	
GO:0019203	carbohydrate phosphatase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0019203	Catalysis of the reaction: carbohydrate phosphate + H2O = carbohydrate + phosphate.	
GO:0009889	regulation of biosynthetic process	biolink:OntologyClass	mondo			regulation of anabolism|regulation of synthesis|regulation of biosynthesis|regulation of formation	http://purl.obolibrary.org/obo/GO_0009889	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances.	
GO:0022843	voltage-gated cation channel activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0022843	Enables the transmembrane transfer of a cation by a voltage-gated channel. A cation is a positively charged ion. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded.	
GO:0022848	acetylcholine-gated cation-selective channel activity	biolink:OntologyClass	mondo			nicotinic acetylcholine-activated cation-selective channel activity|acetylcholine-gated cation channel activity|nicotinergic acetylcholine receptor activity|ionotropic acetylcholine receptor activity|nAChR|acetylcholine-activated cation-selective channel activity	http://purl.obolibrary.org/obo/GO_0022848	Selectively enables the transmembrane transfer of a cation by a channel that opens upon binding acetylcholine.	
HGNC:738	ASCL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/738		
GO:0019200	carbohydrate kinase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0019200	Catalysis of the transfer of a phosphate group, usually from ATP, to a carbohydrate substrate molecule.	
HGNC:713	ARSA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/713		
GO:0046888	negative regulation of hormone secretion	biolink:OntologyClass	mondo			down regulation of hormone secretion|inhibition of hormone secretion|downregulation of hormone secretion|down-regulation of hormone secretion	http://purl.obolibrary.org/obo/GO_0046888	Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a hormone from a cell.	
GO:0046887	positive regulation of hormone secretion	biolink:OntologyClass	mondo			up-regulation of hormone secretion|up regulation of hormone secretion|activation of hormone secretion|stimulation of hormone secretion|upregulation of hormone secretion	http://purl.obolibrary.org/obo/GO_0046887	Any process that activates or increases the frequency, rate or extent of the regulated release of a hormone from a cell.	
GO:0046886	positive regulation of hormone biosynthetic process	biolink:OntologyClass	mondo			upregulation of hormone biosynthetic process|positive regulation of hormone biosynthesis|positive regulation of hormone anabolism|up regulation of hormone biosynthetic process|stimulation of hormone biosynthetic process|positive regulation of hormone synthesis|up-regulation of hormone biosynthetic process|activation of hormone biosynthetic process|positive regulation of hormone formation	http://purl.obolibrary.org/obo/GO_0046886	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of hormones.	
GO:0046885	regulation of hormone biosynthetic process	biolink:OntologyClass	mondo			regulation of hormone anabolism|regulation of hormone synthesis|regulation of hormone formation|regulation of hormone biosynthesis	http://purl.obolibrary.org/obo/GO_0046885	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of hormones.	
GO:0046883	regulation of hormone secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0046883	Any process that modulates the frequency, rate or extent of the regulated release of a hormone from a cell.	
CHEBI:35695	dicarboxylic acid monoanion	biolink:ChemicalSubstance	mondo			dicarboxylic acid monoanions	http://purl.obolibrary.org/obo/CHEBI_35695	Any dicarboxylic acid anion that is a monoanion obtained by the deprotonation of only one of the carboxy groups of the dicarboxylic acid.	
GO:0046889	positive regulation of lipid biosynthetic process	biolink:OntologyClass	mondo			positive regulation of lipid biosynthesis|positive regulation of lipid synthesis|up regulation of lipid biosynthetic process|positive regulation of lipid formation|stimulation of lipid biosynthetic process|up-regulation of lipid biosynthetic process|positive regulation of lipogenesis|activation of lipid biosynthetic process|positive regulation of lipid anabolism|upregulation of lipid biosynthetic process	http://purl.obolibrary.org/obo/GO_0046889	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of lipids.	
GO:0022832	voltage-gated channel activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0022832	Enables the transmembrane transfer of a solute by a channel whose open state is dependent on the voltage across the membrane in which it is embedded.	
GO:0022835	transmitter-gated channel activity	biolink:OntologyClass	mondo			neurotransmitter-gated channel activity|extracellular substance gated channel activity	http://purl.obolibrary.org/obo/GO_0022835	Enables the transmembrane transfer of a solute by a channel that opens when a specific neurotransmitter has been bound by the channel complex or one of its constituent parts.	
GO:0022834	ligand-gated channel activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0022834	Enables the transmembrane transfer of a solute by a channel that opens when a specific ligand has been bound by the channel complex or one of its constituent parts.	
GO:0071840	cellular component organization or biogenesis	biolink:OntologyClass	mondo			cellular component organisation or biogenesis|cellular component organisation or biogenesis at cellular level|cellular component organization or biogenesis at cellular level	http://purl.obolibrary.org/obo/GO_0071840	A process that results in the biosynthesis of constituent macromolecules, assembly, arrangement of constituent parts, or disassembly of a cellular component.	
CHEBI:35692	dicarboxylic acid	biolink:ChemicalSubstance	mondo			Dicarboxylic acid|dicarboxylic acids	http://purl.obolibrary.org/obo/CHEBI_35692	Any carboxylic acid containing two carboxy groups.	
GO:0022836	gated channel activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0022836	Enables the transmembrane transfer of a solute by a channel that opens in response to a specific stimulus.	
GO:0022839	ion gated channel activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0022839	Enables the transmembrane transfer of a solute by a channel that opens in response to a specific ion stimulus.	
GO:0022838		biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0022838		
CHEBI:35693	dicarboxylic acid anion	biolink:ChemicalSubstance	mondo			dicarboxylic acid anions|dicarboxylic acid anion	http://purl.obolibrary.org/obo/CHEBI_35693		
GO:0046890	regulation of lipid biosynthetic process	biolink:OntologyClass	mondo			regulation of lipid anabolism|regulation of lipid biosynthesis|regulation of lipid synthesis|regulation of lipid formation|regulation of lipogenesis	http://purl.obolibrary.org/obo/GO_0046890	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of lipids.	
GO:0044237	cellular metabolic process	biolink:OntologyClass	mondo			intermediary metabolism|cellular metabolism	http://purl.obolibrary.org/obo/GO_0044237	The chemical reactions and pathways by which individual cells transform chemical substances.	
GO:0140096	catalytic activity, acting on a protein	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0140096	Catalytic activity that acts to modify a protein.	
GO:0022829	wide pore channel activity	biolink:OntologyClass	mondo			non-gated, wide pore channel activity|gap junction activity	http://purl.obolibrary.org/obo/GO_0022829	Enables the transport of a solute across a membrane via a large pore, un-gated channel. Examples include gap junctions, which transport substances from one cell to another; and porins which transport substances in and out of bacteria, mitochondria and chloroplasts.	
GO:0044238	primary metabolic process	biolink:OntologyClass	mondo			primary metabolism	http://purl.obolibrary.org/obo/GO_0044238	The chemical reactions and pathways involving those compounds which are formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism.	
HGNC:719	ARSL	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/719		
GO:0022824	transmitter-gated ion channel activity	biolink:OntologyClass	mondo			ionotropic neurotransmitter receptor activity	http://purl.obolibrary.org/obo/GO_0022824	Enables the transmembrane transfer of an ion by a channel that opens when a specific neurotransmitter has been bound by the channel complex or one of its constituent parts.	
GO:0071830	triglyceride-rich lipoprotein particle clearance	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0071830	The process in which a triglyceride-rich lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded.	
HGNC:714	ARSB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/714		
GO:0010828	positive regulation of glucose transmembrane transport	biolink:OntologyClass	mondo			positive regulation of glucose transport	http://purl.obolibrary.org/obo/GO_0010828	Any process that increases the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
GO:0010829	negative regulation of glucose transmembrane transport	biolink:OntologyClass	mondo			negative regulation of glucose transport	http://purl.obolibrary.org/obo/GO_0010829	Any process that decreases the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
GO:0010822	positive regulation of mitochondrion organization	biolink:OntologyClass	mondo			positive regulation of mitochondrion organisation	http://purl.obolibrary.org/obo/GO_0010822	Any process that increases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion.	
GO:0010823	negative regulation of mitochondrion organization	biolink:OntologyClass	mondo			negative regulation of mitochondrion organisation	http://purl.obolibrary.org/obo/GO_0010823	Any process that decreases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion.	
GO:0044248	cellular catabolic process	biolink:OntologyClass	mondo			cellular catabolism|cellular degradation|cellular breakdown	http://purl.obolibrary.org/obo/GO_0044248	The chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells.	
GO:0010821	regulation of mitochondrion organization	biolink:OntologyClass	mondo			regulation of mitochondrion organisation	http://purl.obolibrary.org/obo/GO_0010821	Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion.	
GO:0010827	regulation of glucose transmembrane transport	biolink:OntologyClass	mondo			regulation of glucose transport	http://purl.obolibrary.org/obo/GO_0010827	Any process that modulates the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
GO:0044249	cellular biosynthetic process	biolink:OntologyClass	mondo			cellular biosynthesis|cellular anabolism|cellular synthesis|cellular formation	http://purl.obolibrary.org/obo/GO_0044249	The chemical reactions and pathways resulting in the formation of substances, carried out by individual cells.	
FOODON:03411564	food product organismal source	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03411564	This is a hierarchy of organisms, grouped minimally in a combination of taxonomy and consumer-oriented food groups.	
GO:0044255	cellular lipid metabolic process	biolink:OntologyClass	mondo			cellular lipid metabolism	http://purl.obolibrary.org/obo/GO_0044255	The chemical reactions and pathways involving lipids, as carried out by individual cells.	
GO:0022804	active transmembrane transporter activity	biolink:OntologyClass	mondo			pump activity|carrier activity|active carrier activity|permease activity	http://purl.obolibrary.org/obo/GO_0022804	Enables the transfer of a specific substance or related group of substances from one side of a membrane to the other, up the solute's concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction.	
GO:0022803	passive transmembrane transporter activity	biolink:OntologyClass	mondo			porters|facilitated diffusion|uniporter activity z	http://purl.obolibrary.org/obo/GO_0022803	Enables the transfer of a single solute from one side of a membrane to the other by a mechanism involving conformational change, either by facilitated diffusion or in a membrane potential dependent process if the solute is charged.	
MONDO:0017390	methylmalonic acidemia without homocystinuria	biolink:Disease	mondo	ICD10:E71.1|Orphanet:293355	ordo_group_of_disorders	methylmalonic aciduria without homocystinuria	http://purl.obolibrary.org/obo/MONDO_0017390	Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase.	ORPHA:293355
MONDO:0017391	Grayson-Wilbrandt corneal dystrophy	biolink:Disease	mondo	SCTID:717286002|ICD10:H18.5|Orphanet:293375	ordo_disease	GWCD	http://purl.obolibrary.org/obo/MONDO_0017391	Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity.	ORPHA:293375|SNOMEDCT:717286002
MONDO:0017392	pre-descemet corneal dystrophy	biolink:Disease	mondo	Orphanet:293462|SCTID:231934009|ICD9:371.56|ICD10:H18.5	ordo_disease	PDCD	http://purl.obolibrary.org/obo/MONDO_0017392	Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision.	UMLS:C0339282|ORPHA:293462|SNOMEDCT:231934009
MONDO:0017393	blepharophimosis - intellectual disability syndrome	biolink:Disease	mondo	UMLS:CN203134|Orphanet:293642|GARD:0010892	ordo_group_of_disorders	BMRS|Say Barber Biesecker Young-Simpson syndrome|SBBYS syndrome|blepharophimosis intellectual disability syndromes|blepharophimosis syndrome Ohdo type|Young Simpson syndrome|blepharophimosis mental retardation syndromes	http://purl.obolibrary.org/obo/MONDO_0017393		ORPHA:293642|UMLS:CN203134
GO:0032270	positive regulation of cellular protein metabolic process	biolink:OntologyClass	mondo			positive regulation of cellular protein metabolism|upregulation of cellular protein metabolic process|up regulation of cellular protein metabolic process|stimulation of cellular protein metabolic process|up-regulation of cellular protein metabolic process|activation of cellular protein metabolic process	http://purl.obolibrary.org/obo/GO_0032270	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a protein, occurring at the level of an individual cell.	
MONDO:0017398	3MC syndrome	biolink:Disease	mondo	GARD:0001118|SCTID:720756005|DOID:0060225|Orphanet:293843|OMIMPS:257920|ICD10:Q87.8|UMLS:CN230015	ordo_malformation_syndrome|gard_rare	craniofacial-ulnar-renal syndrome|oculopalatoskeletal syndrome|Malpuech-Michels-Mingarelli-Carnevale syndrome	http://purl.obolibrary.org/obo/MONDO_0017398	3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect), caudal appendage, umbilical hernia/omphalocele and diastasis recti.	UMLS:CN230015|DOID:0060225|ORPHA:293843|SNOMEDCT:720756005
MONDO:0017399	frontotemporal dementia, right temporal atrophy variant	biolink:Disease	mondo	Orphanet:293848|ICD10:G31.0|UMLS:CN203142|SCTID:716667005	ordo_disease	RTLA|rvFTD	http://purl.obolibrary.org/obo/MONDO_0017399	Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy.	ORPHA:293848|UMLS:CN203142|SNOMEDCT:716667005
GO:0032278	positive regulation of gonadotropin secretion	biolink:OntologyClass	mondo			positive regulation of gonadotrophin secretion|upregulation of gonadotropin secretion|stimulation of gonadotropin secretion|up regulation of gonadotropin secretion|activation of gonadotropin secretion|up-regulation of gonadotropin secretion	http://purl.obolibrary.org/obo/GO_0032278	Any process that activates or increases the frequency, rate or extent of the regulated release of a gonadotropin.	
GO:0032277	negative regulation of gonadotropin secretion	biolink:OntologyClass	mondo			down regulation of gonadotropin secretion|negative regulation of gonadotrophin secretion|inhibition of gonadotropin secretion|down-regulation of gonadotropin secretion|downregulation of gonadotropin secretion	http://purl.obolibrary.org/obo/GO_0032277	Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a gonadotropin.	
MONDO:0017394	ketamine-induced biliary dilatation	biolink:Disease	mondo	Orphanet:293807|UMLS:CN227122|UMLS:C4512018|SCTID:726613003	ordo_clinical_situation		http://purl.obolibrary.org/obo/MONDO_0017394	Ketamine-induced biliary dilatation is an acquired biliary tract disease caused by the abusive consumption of ketamine, which results in the fusiform dilatation of the common bile ducts (CBD) without obstructive lesions or dilatation of the intrahepatic biliary ducts. Possible manifestations of the underlying cholangiopathy include epigastric pain and impaired liver function. Severity of CBD dilatation appears to correlate with the duration of ketamine consumption and the condition has been reported to be reversible in abstinent patients.	SNOMEDCT:726613003|UMLS:C4512018|ORPHA:293807|UMLS:CN227122
GO:0032276	regulation of gonadotropin secretion	biolink:OntologyClass	mondo			regulation of gonadotrophin secretion	http://purl.obolibrary.org/obo/GO_0032276	Any process that modulates the frequency, rate or extent of the regulated release of a gonadotropin.	
MONDO:0017395	fixed pigmented erythema	biolink:Disease	mondo	Orphanet:293812|SCTID:73692007|MedDRA:10048796	ordo_disease	fixed drug eruption	http://purl.obolibrary.org/obo/MONDO_0017395		SNOMEDCT:73692007|MEDDRA:10048796|UMLS:C0877391|ORPHA:293812
GO:0032274	gonadotropin secretion	biolink:OntologyClass	mondo			gonadotrophin secretion	http://purl.obolibrary.org/obo/GO_0032274	The regulated release of a gonadotropin, any hormone that stimulates the gonads, especially follicle-stimulating hormone and luteinizing hormone.	
MONDO:0017396	toxic dermatosis	biolink:Disease	mondo	Orphanet:293815	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017396		ORPHA:293815
MONDO:0017397	constitutional dyserythropoietic anemia	biolink:Disease	mondo	ICD10:D64.4|Orphanet:293830	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017397		ORPHA:293830
MONDO:0017380	juvenile polyposis syndrome	biolink:Disease	mondo	SCTID:9273005|GARD:0003065|Orphanet:2929|UMLS:CN239474|NCIT:C7754|ICD10:D12.6	ordo_disease	PJI|juvenile multiple polyps syndrome|jPS|juvenile intestinal polyposis|JIP|polyposis familial of entire gastrointestinal tract|juvenile polyposis syndrome|polyposis juvenile intestinal|juvenile polyposis|juvenile gastrointestinal polyposis	http://purl.obolibrary.org/obo/MONDO_0017380	Juvenile gastrointestinal polyposis (JIP) is a rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract.	ORPHA:2929|SNOMEDCT:9273005|NCIT:C7754|UMLS:CN239474
MONDO:0017381	congenital herpes simplex virus infection	biolink:Disease	mondo	GARD:0007173|SCTID:91576008|GARD:0001486|UMLS:C0276225|ICD10:P35.2|ICD9:771.2|Orphanet:293	ordo_disease|gard_rare	mother-to-child transmission of herpes simplex virus infection|Simplexvirus caused infectious embryofetopathy|neonatal herpes simplex virus infection|Simplexvirus infectious embryofetopathy|congenital herpes simplex|antenatal herpes simplex virus infection|congenital herpes simplex infection|neonatal HSV infection|neonatal herpes simplex	http://purl.obolibrary.org/obo/MONDO_0017381	Congenital herpes virus infection is a group of anomalies that an infant may present as a result of maternal infection and subsequent foetal infection with herpes virus. This virus causes recurrent cutaneous infections in adults, often involving the lips or the genitalia. Herpes infections in other organs, such as the liver or central nervous system, are less frequent.	SNOMEDCT:91576008|ORPHA:293|UMLS:C0276225
MONDO:0017382	familial clubfoot due to 5q31 microdeletion	biolink:Disease	mondo	Orphanet:293144|ICD10:Q66.8|UMLS:CN203109	ordo_etiological_subtype	hereditary clubfoot due to 5q31 microdeletion	http://purl.obolibrary.org/obo/MONDO_0017382		ORPHA:293144|UMLS:CN203109
NCBITaxon:431838	Intramacronucleata	organism taxon	mondo	GC_ID:6			http://purl.obolibrary.org/obo/NCBITaxon_431838		
MONDO:0017387	epithelioid sarcoma	biolink:Disease	mondo	Orphanet:293202|DOID:6193|NCIT:C3714|UMLS:C0205944|ONCOTREE:EPIS|ICDO:8804/3|MedDRA:10015099|ICD10:C49.9|GARD:0010181	ordo_disease|gard_rare	epithelioid cell sarcoma|epithelioid sarcoma|ES	http://purl.obolibrary.org/obo/MONDO_0017387	An aggressive malignant neoplasm of uncertain differentiation, characterized by the presence of epithelioid cells forming nodular patterns. The nodules often undergo central necrosis, resulting in a pseudogranulomatous growth pattern. It usually occurs in young adults. The most common sites of involvement are the extremities (distal-type epithelioid sarcoma), and less frequently the pelvis, perineum, and genital organs (proximal-type epithelioid sarcoma).	DOID:6193|NCIT:C3714|MEDDRA:10015099|ORPHA:293202|UMLS:C0205944
GO:0032269	negative regulation of cellular protein metabolic process	biolink:OntologyClass	mondo			downregulation of cellular protein metabolic process|down regulation of cellular protein metabolic process|inhibition of cellular protein metabolic process|down-regulation of cellular protein metabolic process|negative regulation of cellular protein metabolism	http://purl.obolibrary.org/obo/GO_0032269	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving a protein, occurring at the level of an individual cell.	
MONDO:0017388	celiac trunk compression syndrome	biolink:Disease	mondo	UMLS:CN203119|ICD10:I77.4|Orphanet:293208	ordo_disease	Dunbar syndrome	http://purl.obolibrary.org/obo/MONDO_0017388		ORPHA:293208|UMLS:CN203119
GO:0032268	regulation of cellular protein metabolic process	biolink:OntologyClass	mondo			regulation of cellular protein metabolism	http://purl.obolibrary.org/obo/GO_0032268	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a protein, occurring at the level of an individual cell.	
MONDO:0017389	tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria	biolink:Disease	mondo	ICD10:E70.1|Orphanet:293284	ordo_clinical_subtype	BH4-responsive HPA/PKU|tetrahydrobiopterin-responsive HPA/PKU|BH4-responsive hyperphenylalaninemia/phenylketonuria	http://purl.obolibrary.org/obo/MONDO_0017389	Tetrahydrobiopterin-responsive hyperphenylalaninemia/ phenylketonuria (BH4-responsive hyperphenylalaninemia/ phenylketonuria) is a form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase.	ORPHA:293284
MONDO:0017383	familial clubfoot due to PITX1 point mutation	biolink:Disease	mondo	ICD10:Q66.8|Orphanet:293150|UMLS:CN203110	ordo_etiological_subtype	hereditary clubfoot due to PITX1 point mutation	http://purl.obolibrary.org/obo/MONDO_0017383		ORPHA:293150|UMLS:CN203110
MONDO:0017384	acute generalized exanthematous pustulosis	biolink:Disease	mondo	SCTID:702617007|NCIT:C112122|Orphanet:293173|MESH:D056150|ICD9:709.8|MedDRA:10048799|UMLS:C0877055	ordo_disease	AGEP|toxic pustuloderma|pustular drug eruption	http://purl.obolibrary.org/obo/MONDO_0017384	A widespread acute rash characterized by fever and multiple small pustules on a reddish background.	MEDDRA:10048799|UMLS:C0877055|ORPHA:293173|NCIT:C112122|SNOMEDCT:702617007|MESH:D056150
MONDO:0017385	malignant migrating partial seizures of infancy	biolink:Disease	mondo	NCIT:C125387|UMLS:CN203114|UMLS:CN240507|GARD:0012919|Orphanet:293181	ordo_disease	MPEI|MMPSI|MMPEI|migrating Partial seizures in infancy|malignant migrating Partial seizures in infancy|MPSI|migrating partial seizures of infancy|migrating partial epilepsy of infancy|malignant migrating partial epilepsy of infancy	http://purl.obolibrary.org/obo/MONDO_0017385	A very rare severe form of epilepsy with poor prognosis that usually begins within a few weeks of birth. The seizure activity can appear in multiple locations in the brain or migrate from one region to another during an episode. It results in severe developmental delay.	UMLS:CN240507|ORPHA:293181|NCIT:C125387|UMLS:CN203114
MONDO:0017386	pleomorphic rhabdomyosarcoma	biolink:Disease	mondo	Orphanet:293199|ICD10:C49.9|NCIT:C4258|SCTID:404054005|UMLS:C0334480|DOID:3250|ONCOTREE:PLRMS|ICD9:171.9	ordo_disease	pleomorphic rhabdomyosarcoma|pleomorphic rhabdomyosarcoma, adult type|anaplastic rhabdomyosarcoma	http://purl.obolibrary.org/obo/MONDO_0017386	An aggressive malignant mesenchymal neoplasm with skeletal muscle differentiation, occurring in adults and rarely in children. The tumor is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually of the lower extremities.	DOID:3250|SNOMEDCT:404054005|ORPHA:293199|NCIT:C4258|UMLS:C0334480
MONDO:0042370	Yersinia enterocolitica infectious disease	biolink:Disease	mondo	SCTID:80960004		infection caused by Yersinia enterocolitica|infection by Yersinia enterocolitica	http://purl.obolibrary.org/obo/MONDO_0042370		SNOMEDCT:80960004
MONDO:0017370	autoinflammatory syndrome with skin involvement	biolink:Disease	mondo	UMLS:CN203043|Orphanet:290842	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017370		ORPHA:290842|UMLS:CN203043
MONDO:0017371	obsolete rare head and neck tumor	biolink:Disease	mondo	Orphanet:290849	ordo_group_of_disorders|obsoletion_candidate	rare head and neck neoplasm|rare head and neck neoplasia	http://purl.obolibrary.org/obo/MONDO_0017371	Rare head and neck neoplasia.	ORPHA:290849
GO:0032259	methylation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0032259	The process in which a methyl group is covalently attached to a molecule.	
MONDO:0005387	primary ovarian failure	biolink:Disease	mondo	NCIT:C113352|SCTID:370999003|ICD9:253.4|DOID:5426|UMLS:C0085215|ICD10:E28.3|ICD9:256.39|EFO:0004266|SCTID:65846009|MESH:D016649		primary ovarian failure|premature ovarian insufficiency|hypergonadotrophic ovarian failure|premature ovarian failure|primary ovarian insufficiency|hypergonadotropic hypogonadism (female)|premature menopause|female hypergonadotropic hypogonadism|primary female hypogonadism|hypergonadotropic hypogonadism	http://purl.obolibrary.org/obo/MONDO_0005387	Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries.	SNOMEDCT:65846009|MESH:D016649|UMLS:C0085215|DOID:5426|NCIT:C113352|SNOMEDCT:370999003
MONDO:0005386	peripheral arterial disease	biolink:Disease	mondo	NCIT:C84496|DOID:0050830|MESH:D058729|EFO:0004265|ICD9:443.81|SCTID:399957001		peripheral artery disease|peripheral arterial disorder|pad	http://purl.obolibrary.org/obo/MONDO_0005386	A disorder of the arteries supplying the upper and lower extremity and the visceral organs. This includes the mesenteric arteries, the renal arteries and the aorta and excludes cerebrovascular arterial disease. Patients experience cramping and pain usually in the calves and thighs while walking. The symptoms subside with rest.	SNOMEDCT:399957001|MESH:D058729|DOID:0050830|NCIT:C84496
MONDO:0005389	obsolete sclerosing cholangitis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005389		
MONDO:0005388	primary biliary cholangitis	biolink:Disease	mondo	NCIT:C27167|SCTID:31712002|Orphanet:186|ICD10:K74.3|GARD:0007459|COHD:4135822|ICD10:K74.5|MESH:D008105|UMLS:C0008312|MedDRA:10019137|MedDRA:10004661|EFO:0004267|DOID:12236|OMIMPS:109720|ICD9:571.6	ordo_disease	biliary cirrhosis, primary|PBC|chronic nonsuppurative destructive cholangitis|cholestatic cirrhosis|primary Bilary cirrhosis (PBC)|familial primary biliary cirrhosis|Hanot syndrome|biliary liver cirrhosis|primary biliary cirrhosis|chronic non-suppurative destructive cholangitis	http://purl.obolibrary.org/obo/MONDO_0005388	Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure.	SNOMEDCT:31712002|UMLS:C0859942|MEDDRA:10019137|ORPHA:186|MESH:D008105|UMLS:C0008312|MEDDRA:10004661|DOID:12236|NCIT:C27167
MONDO:0005383	panic disorder	biolink:Disease	mondo	SCTID:371631005|MESH:D016584|DOID:594|EFO:0004262|UMLS:CN240645|NCIT:C34890|ICD9:300.01		panic anxiety syndrome	http://purl.obolibrary.org/obo/MONDO_0005383	An anxiety disorder characterized by multiple unexpected panic attacks with persistent concern of recurring attacks. Panic disorder may or may not be accompanied by agoraphobia.	DOID:594|NCIT:C34890|UMLS:CN240645|SNOMEDCT:371631005|MESH:D016584
MONDO:0005382	bone Paget disease	biolink:Disease	mondo	DOID:5408|ICD10:M88|EFO:0004261|OMIMPS:167250|UMLS:C0029401|SCTID:2089002|NCIT:C3292		Pagets disease (bone)|Paget disease of bone|bone Paget's disease|osteitis deformans|familial Paget's disease of bone|Paget's disease|Paget's disease of bone|Paget's disease of the bone|osseous Paget's disease|Paget's bone disease|bone Paget disease	http://purl.obolibrary.org/obo/MONDO_0005382	A disease of bone that initially results in the excessive resorption of bone (by osteoclasts) followed by the replacement of normal bone marrow with vascular and fibrous tissue.	DOID:5408|UMLS:C0029401|SNOMEDCT:2089002|NCIT:C3292
MONDO:0005385	vascular disease	biolink:Disease	mondo	ICD9:442.9|NCIT:C35117|ICD10:I72.9|SCTID:27550009|UMLS:C0042373|EFO:0004264|MESH:D014652|DOID:178		vasculature disease|disorder of vasculature|vascular disorder|vascular tissue disease|disease or disorder of vasculature|disease of vasculature|vasculature disease or disorder|disorder of vasculature	http://purl.obolibrary.org/obo/MONDO_0005385	A non-neoplastic or neoplastic disorder affecting the arteries, veins, or lymphatic vessels. Examples include vasculitis, thrombophlebitis, arteriosclerosis, lymphedema, hemangioma, and angiosarcoma.	NCIT:C35117|MESH:D014652|DOID:178|UMLS:C0042373|SNOMEDCT:27550009|NCIT:C26693
MONDO:0005384	partial epilepsy	biolink:Disease	mondo	SCTID:230381009|ICD9:345.50|NCIT:C122812|DOID:2234|MESH:D004828|EFO:0004263|UMLS:C0014547		focal epilepsy|localisation-related epilepsy|partial epilepsy	http://purl.obolibrary.org/obo/MONDO_0005384	A seizure caused by a localized disorder.	MESH:D004828|UMLS:C0014547|NCIT:C122812|SNOMEDCT:230381009|DOID:2234
MONDO:0005381	bone disease	biolink:Disease	mondo	UMLS:CN204768|ICD10:M89.9|MESH:D001847|ICD9:731.8|ICD9:733.99|DOID:0080001|Orphanet:364803|SCTID:76069003|UMLS:C0005940|EFO:0004260	ordo_group_of_disorders	disorder of bone element|disease or disorder of bone element|disease of bone element|rare bone disease related to a common gene or pathway defect|bone element disease|skeletal disease|bone element disease or disorder|disorder of bone element	http://purl.obolibrary.org/obo/MONDO_0005381	Diseases of bones.	DOID:0080001|ORPHA:364803|MESH:D001847|SNOMEDCT:76069003|UMLS:C0005940|UMLS:CN204768
CHEBI:60643	NMDA receptor antagonist	biolink:ChemicalSubstance	mondo			NMDAR antagonists|NMDAR antagonist|N-methyl-D-aspartate receptor antagonist|NMDA receptor antagonists|N-methyl-D-aspartate receptor antagonists	http://purl.obolibrary.org/obo/CHEBI_60643	Any substance that inhibits the action of N-methyl-D-aspartate (NMDA) receptors. They tend to induce a state known as dissociative anesthesia, marked by catalepsy, amnesia, and analgesia, while side effects can include hallucinations, nightmares, and confusion. Due to their psychotomimetic effects, many NMDA receptor antagonists are used as recreational drugs.	
MONDO:0005380	osteonecrosis	biolink:Disease	mondo	SCTID:240196003|ICD9:733.44|DOID:10159|NCIT:C34880|ICD10:M87.9|ICD9:733.43|ICD9:732.3|ICD9:733.42|EFO:0004259|ICD9:733.41|Orphanet:399158|ICD9:733.4|GARD:0012057|ICD10:M87.8|COHD:4344387|MESH:D010020|NCIT:C35476|ICD10:M87.3|ICD9:733.49|ICD10:M87.2|ICD10:M87|DOID:0080008|ICD10:M87.1|ICD10:M87.0	ordo_group_of_disorders	aseptic necrosis|avascular necrosis of bone|bone necrosis|avascular necrosis|ischemic bone disease|osteonecrosis	http://purl.obolibrary.org/obo/MONDO_0005380	A none disease characterized by death of bone tissue due to a lack of blood supply.	DOID:0080008|NCIT:C35476|ORPHA:399158|NCIT:C34880|MESH:D010020|SNOMEDCT:240196003|DOID:10159
MONDO:0017376	reactive arthritis	biolink:Disease	mondo	ICD9:711.30|ICD10:M02.10|EFO:0007460|ICD10:M02.30|ICD10:M02.3|ICD9:099.3|MESH:D016918|DOID:6196|MedDRA:10003267|UMLS:CN203069|NCIT:C128332|ICD10:M02.8|UMLS:C0035012|COHD:78357|SCTID:129133005|Orphanet:29207|ICD9:711.40|MedDRA:10038294|GARD:0005693|UMLS:C0085435|ICD10:M02.1|ICD9:711.3	ordo_disease|gard_rare	Reiter's disease|post-infectious reactive arthropathy|Reiter's syndrome|Reiter disease|post-bacterial arthropathy|Reiter syndrome|Fiessinger-Leroy disease|reactive arthritis|polyarthritis enterica|postdysenteric arthropathy|arthritis urethritica|venereal arthritis|PIRA|post-infectious arthritis|Fiessinger-Leroy-Reiter syndrome|Fiessinger Leroy Reiter syndrome	http://purl.obolibrary.org/obo/MONDO_0017376	Reactive arthritis (ReA) is an autoimmune disorder belonging to the group of seronegative spondyloarthropathies and is characterized by the classic triad of arthritis, urethritis and conjunctivitis.	ORPHA:29207|MESH:D016918|DOID:6196|UMLS:C0085435|NCIT:C128332|UMLS:C0035012|MEDDRA:10003267|SNOMEDCT:129133005|UMLS:CN203069|MEDDRA:10038294
MONDO:0017377	preaxial polydactyly-colobomata-intellectual disability syndrome	biolink:Disease	mondo	GARD:0004304|Orphanet:2921|ICD10:Q87.2|MESH:C537888|SCTID:733088002|UMLS:C2931655	ordo_malformation_syndrome	short stature mental retardation type I preaxial polydactyly with colobomatous abnormalities|Pfeiffer Mayer syndrome|short stature intellectual disability type I preaxial polydactyly with colobomatous abnormalities|Pfeiffer-Mayer syndrome	http://purl.obolibrary.org/obo/MONDO_0017377	Preaxial polydactyly-colobomata-intellectual disability syndrome is characterised by growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of sibs (brother and sister). The mode of transmission is thought to be autosomal recessive.	ORPHA:2921|MESH:C537888|SNOMEDCT:733088002|UMLS:C2931655
MONDO:0017378	obsolete polymicrogyria-turricephaly-hypogenitalism syndrome	biolink:Disease	mondo	ICD10:Q87.8|UMLS:CN227120|Orphanet:2925			http://purl.obolibrary.org/obo/MONDO_0017378		UMLS:CN227120|ORPHA:2925
MONDO:0017379	polyneuropathy-intellectual disability-acromicria-premature menopause syndrome	biolink:Disease	mondo	UMLS:CN203094|GARD:0004424|ICD10:Q87.8|Orphanet:2928	ordo_malformation_syndrome	polyneuropathy intellectual disability acromicria premature menopause|polyneuropathy mental retardation acromicria premature menopause|Lundberg syndrome|polyneuropathy - intellectual deficit - acromicria - premature menopause	http://purl.obolibrary.org/obo/MONDO_0017379	Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971.	UMLS:CN203094|ORPHA:2928
MONDO:0017372	congenital varicella syndrome	biolink:Disease	mondo	ICD9:771.2|NCIT:C116800|SCTID:277644009|UMLS:C0343560|Orphanet:291|GARD:0000045|ICD10:P35.8	gard_rare|ordo_disease	Varicella embryopathy|fetal varicella infection|fetal effects of chickenpox|fetal effects of varicella zoster virus|mother-to-child transmission of varicella syndrome|Varicella virus antenatal infection|antenatal varicella virus infection|fetal varicella zoster syndrome	http://purl.obolibrary.org/obo/MONDO_0017372	Fetal varicella syndrome (CVS) is an acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection.	ORPHA:291|UMLS:C0343560|NCIT:C116800|SNOMEDCT:277644009
MONDO:0017373	poliomyelitis	biolink:Disease	mondo	Orphanet:2912|ICD10:A80.1|ICD10:A80.0|ICD10:A80|ICD9:045|MedDRA:10036012|COHD:378679|GARD:0007413|ICD9:045.90|SCTID:398102009|DOID:4953|ICD9:045.9|ICD9:045.92|ICD10:A80.9|UMLS:C0032371|MESH:D011051|ICD10:A80.3|ICD10:A80.4|ICD10:A80.2|NCIT:C35550|EFO:0007450	ordo_disease	Polia|polio|infantile paralysis|acute poliomyelitis|poliomyelitis	http://purl.obolibrary.org/obo/MONDO_0017373	An acute infectious disorder that affects the nervous system. It is caused by the poliovirus. The virus spreads by direct contact, and can be prevented by prophylaxis with the polio vaccine.	MEDDRA:10036012|NCIT:C35550|ORPHA:2912|MESH:D011051|DOID:4953|SNOMEDCT:398102009|UMLS:C0032371
MONDO:0017374	obsolete polydactyly	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0017374		
MONDO:0017375	congenital enterovirus infection	biolink:Disease	mondo	SCTID:716865000|Orphanet:292|ICD10:P35.8|UMLS:C4274223	ordo_disease	antenatal enterovirus infection|congenital enterovirus infection|congenital enterovirus infectious disease|mother-to-child transmission of enterovirus infection|congenital infection caused by enterovirus	http://purl.obolibrary.org/obo/MONDO_0017375	Congenital viral infections with enteroviruses (EV) including coxsackie viruses and ECHO viruses is an infectious embryofetopathy that have been reported to cause spontaneous abortion, stillbirth, fetal malformations and acute systemic illness in the newborn.	UMLS:C4274223|SNOMEDCT:716865000|ORPHA:292
MONDO:0017360	vitamin B12-unresponsive methylmalonic acidemia type mut0	biolink:Disease	mondo	SCTID:237945003|UMLS:CN203025|ICD10:E71.1|Orphanet:289916	ordo_clinical_subtype	complete deficiency of methylmalonyl-CoA mutase|vitamin B12-unresponsive methylmalonic aciduria type mut0	http://purl.obolibrary.org/obo/MONDO_0017360	Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.	SNOMEDCT:237945003|UMLS:CN203025|ORPHA:289916
MONDO:0005398	upper aerodigestive tract neoplasm	biolink:Disease	mondo	ICD9:239.89|SCTID:439361000|EFO:0004284			http://purl.obolibrary.org/obo/MONDO_0005398	Soft tissue tumors or cancer arising from the mucosal surfaces of the lip; oral cavity; pharynx; larynx; and cervical esophagus. Other sites included are the nose and paranasal sinuses; salivary glands; thyroid gland and parathyroid glands; and melanoma and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)	SNOMEDCT:439361000
MONDO:0005397	goiter (disease)	biolink:Disease	mondo	DOID:12176|MESH:D006042|SCTID:3716002|HP:0000853|COHD:135772|ICD10:E04.9|NCIT:C26785|ICD9:240.9|EFO:0004283		goitre|Thyromegaly|goiter	http://purl.obolibrary.org/obo/MONDO_0005397	Enlargement of the thyroid gland usually caused by lack of iodine in the diet, hyperthyroidism, or thyroid nodules. Symptoms include difficulty in breathing and swallowing.	MESH:D006042|DOID:12176|NCIT:C26785|SNOMEDCT:3716002
MONDO:0005399	venous thromboembolism	biolink:Disease	mondo	UMLS:C1861172|EFO:0004286|NCIT:C99537|MESH:D054556		venous thromboembolism	http://purl.obolibrary.org/obo/MONDO_0005399	Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream.	UMLS:C1861172|MESH:D054556|NCIT:C99537
MONDO:0005394	brain infarction	biolink:Disease	mondo	DOID:3454|UMLS:C0751955|EFO:0004277|MESH:D020520			http://purl.obolibrary.org/obo/MONDO_0005394	Tissue necrosis in any area of the brain, including the cerebral hemispheres, the cerebellum, and the brain stem. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by hypoxia and hypoglycemia in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis.	DOID:3454|UMLS:C0751955|MESH:D020520
MONDO:0005393	gout	biolink:Disease	mondo	NCIT:C34650|ICD9:274|ICD9:274.0|MESH:D006073|ICD10:M10|COHD:440674|UMLS:C0018099|SCTID:190828008|ICD10:M10.9|DOID:13189|EFO:0004274|UMLS:C0003868|ICD9:274.00|ICD9:274.9		gout|chronic gout|tophaceous gout|gouty arthropathy|gouty arthritis|tophaceous disease|articular gout	http://purl.obolibrary.org/obo/MONDO_0005393	A condition characterized by painful swelling of the joints, which is caused by deposition of urate crystals.	NCIT:C34650|DOID:13189|MESH:D006073|UMLS:C0018099|SNOMEDCT:190828008|UMLS:C0003868
MONDO:0005396	thoracic aortic aneurysm	biolink:Disease	mondo	SCTID:433068007|UMLS:C0162872|DOID:14004|EFO:0004282|MESH:D017545			http://purl.obolibrary.org/obo/MONDO_0005396	An aneurysm formed in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta.	SNOMEDCT:433068007|DOID:14004|UMLS:C0162872|NCIT:C27001|MESH:D017545
MONDO:0005395	movement disorder	biolink:Disease	mondo	EFO:0004280|MESH:D009069|DOID:480|ICD9:333.99|NCIT:C116757|COHD:372604|SCTID:60342002|ICD9:333.90		movement disorders|movement disease	http://purl.obolibrary.org/obo/MONDO_0005395	Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement.	MESH:D009069|SNOMEDCT:60342002|DOID:480|NCIT:C116757
MONDO:0005390	obsolete cardiac arrhythmia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005390		
MONDO:0005392	scoliosis	biolink:Disease	mondo	DOID:0060249|MESH:D012600|HP:0002650|SCTID:298382003|ICD10:M41.9|ICD10:M41|ICD9:737.43|EFO:0004273|NCIT:C78603			http://purl.obolibrary.org/obo/MONDO_0005392	A congenital or acquired spinal deformity characterized by lateral curvature of the spine.	MESH:D012600|SNOMEDCT:298382003|DOID:0060249|NCIT:C78603
MONDO:0005391	restless legs syndrome	biolink:Disease	mondo	UMLS:C0035258|NCIT:C84501|OMIMPS:102300|ICD9:333.99|ICD9:333.94|ICD10:G25.81|MESH:D012148|DOID:0050425|EFO:0004270|SCTID:32914008|GARD:0011926		Willis-Ekbom disease|WED|Wittmaack-Ekbom syndrome|RLS|restless leg syndrome	http://purl.obolibrary.org/obo/MONDO_0005391	A condition that occurs while resting or lying in bed; it is characterized by an irresistible urgency to move the legs to obtain relief from a strange and uncomfortable sensation in the legs.	MESH:D012148|DOID:0050425|UMLS:C0035258|SNOMEDCT:32914008|NCIT:C84501
MONDO:0017369	autoinflammatory syndrome with immune deficiency	biolink:Disease	mondo	UMLS:CN203042|Orphanet:290839	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017369		UMLS:CN203042|ORPHA:290839
MONDO:0017365	hereditary acrokeratotic poikiloderma, Weary type	biolink:Disease	mondo	ICD10:Q82.8|Orphanet:2907	ordo_clinical_subtype	congenital poikiloderma with bullae, Weary type	http://purl.obolibrary.org/obo/MONDO_0017365		UMLS:C0406556|ORPHA:2907
HP:0006562	Viral hepatitis	biolink:PhenotypicFeature	mondo	SNOMEDCT_US:3738000|UMLS:C0042721			http://purl.obolibrary.org/obo/HP_0006562	Inflammation of the liver due to infection with a virus.	
MONDO:0017366	hereditary pheochromocytoma-paraganglioma	biolink:Disease	mondo	UMLS:C1708353|ICD10:D35.6|GARD:0011984|ICD10:C75.5|ICD10:D35.0|Orphanet:29072|ICD10:C74.1	ordo_disease|clingen|gard_rare	familial pheochromocytoma-paraganglioma|hereditary paraganglioma-pheochromocytoma|SDHx-related paraganglioma-pheochromocytoma	http://purl.obolibrary.org/obo/MONDO_0017366	Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas).	ORPHA:29072|UMLS:C1708353
MONDO:0017367	obsolete kindler syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0017367		
MONDO:0017368	systemic disease with skin involvement	biolink:Disease	mondo	UMLS:CN203041|Orphanet:290836	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017368		UMLS:CN203041|ORPHA:290836
MONDO:0017361	congenital rubella syndrome	biolink:Disease	mondo	MESH:D012410|GARD:0004744|COHD:433869|Orphanet:290|ICD10:P35.0|MedDRA:10010618|SCTID:1857005|UMLS:C0035921|ICD9:771.0	ordo_disease	CRS|fetal rubella syndrome|Rubella congenital|mother-to-child transmission of rubella syndrome	http://purl.obolibrary.org/obo/MONDO_0017361	Congenital rubella syndrome (CRS) is an infectious embryofetopathy that may present in an infant as a result of maternal infection and subsequent fetal infection with rubella virus. CRS can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects.	SNOMEDCT:1857005|ORPHA:290|MEDDRA:10010618|MESH:D012410|UMLS:C0035921
MONDO:0017362	neuralgic amyotrophy	biolink:Disease	mondo	Orphanet:2901|ICD10:G54.5|COHD:377271|MedDRA:10063020	ordo_disease	mononeuritis multiplex with brachial predilection|brachial plexus neuritis|immune brachial plexus neuropathy|acute brachial plexus neuritis|neuralgic shoulder amyotrophy	http://purl.obolibrary.org/obo/MONDO_0017362	Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form.	MEDDRA:10063020|ORPHA:2901|UMLS:C0221759
MONDO:0017363	idiopathic chronic eosinophilic pneumonia	biolink:Disease	mondo	Orphanet:2902|MESH:C535590|ICD10:J82|GARD:0001130	gard_rare|ordo_disease	chronic eosinophilic pneumonia (CEP)|Carrington's disease|Carrington's pulmonary eosinophilia|eosinophilic idiopathic chronic pneumopathy|Carrington syndrome|chronic idiopathic eosinophilic pneumonia|chronic eosinophilic pneumonia	http://purl.obolibrary.org/obo/MONDO_0017363	Idiopathic chronic eosinophilic pneumonia (ICEP) is a very rare, severe, interstitial lung disease of insidious onset with subacute or chronic non-specific respiratory manifestations (dyspnea, cough, wheezing) often associated with systemic manifestations (fatigue, malaise, weight loss).	ORPHA:2902|MESH:C535590
MONDO:0017364	POEMS syndrome	biolink:Disease	mondo	MESH:D016878|SCTID:79268002|EFO:1001115|DOID:14039|UMLS:C0085404|ICD10:D47.7|MedDRA:10053869|GARD:0007411|NCIT:C80303|Orphanet:2905	ordo_disease	Crow-Fukase syndrome|polyneuropathy organomegaly|polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome|Takatsuki syndrome|POEMS syndrome|osteosclerotic myeloma|polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes syndrome|PEP syndrome	http://purl.obolibrary.org/obo/MONDO_0017364	POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels.	MESH:D016878|UMLS:C0085404|ORPHA:2905|MEDDRA:10053869|DOID:14039|NCIT:C80303|SNOMEDCT:79268002|UMLS:C1510415
HP:0006561	Lipid accumulation in hepatocytes	biolink:PhenotypicFeature	mondo	UMLS:C1837257			http://purl.obolibrary.org/obo/HP_0006561		
HGNC:799	ATP1A1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/799		
HGNC:795	ATM	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/795		
HGNC:794	ATIC	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/794		
MONDO:0044972	eosinophil disease	biolink:Disease	mondo	SCTID:417967008|UMLS:C1691020		disorder of eosinophil|disorder of eosinophil|disease or disorder of eosinophil|disease of eosinophil|eosinophil disease or disorder	http://purl.obolibrary.org/obo/MONDO_0044972	A disease or disorder that involves the eosinophil.	UMLS:C1691020|SNOMEDCT:417967008
HGNC:791	ATF6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/791		
MONDO:0044975	disease of transporter activity	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0044975		
MONDO:0044974	disease of supramolecular complex	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0044974		
GO:0007276	gamete generation	biolink:OntologyClass	mondo			gametogenesis	http://purl.obolibrary.org/obo/GO_0007276	The generation and maintenance of gametes in a multicellular organism. A gamete is a haploid reproductive cell.	
GO:0007275	multicellular organism development	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0007275	The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult).	
GO:0007274	neuromuscular synaptic transmission	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0007274	The process of synaptic transmission from a neuron to a muscle, across a synapse.	
MONDO:0044971	disease of macromolecular complex	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0044971		
MONDO:0044970	mitochondrial disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0044970		
GO:0007283	spermatogenesis	biolink:OntologyClass	mondo			generation of spermatozoa	http://purl.obolibrary.org/obo/GO_0007283	The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa.	
MONDO:0044969	disease of membrane bound organelle	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0044969		
NCBITaxon:2172821	Multicrustacea	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_2172821		
GO:0007281	germ cell development	biolink:OntologyClass	mondo			primordial germ cell development|germ-cell development	http://purl.obolibrary.org/obo/GO_0007281	The process whose specific outcome is the progression of an immature germ cell over time, from its formation to the mature structure (gamete). A germ cell is any reproductive cell in a multicellular organism.	
MONDO:0044965	abdominal and pelvic region disorder	biolink:Disease	mondo	SCTID:609618002|UMLS:C3661988		disease of abdominal segment of trunk|abdominal segment of trunk disease|abdominal segment of trunk disease or disorder|disorder of abdominal segment of trunk|disorder of abdominal segment of trunk|disease or disorder of abdominal segment of trunk	http://purl.obolibrary.org/obo/MONDO_0044965	A disease or disorder that involves the abdominal segment of trunk.	UMLS:C3661988|SNOMEDCT:609618002
MONDO:0044967	limb disorder	biolink:Disease	mondo	ICD9:V49.1|UMLS:C1290877|SCTID:128605003		disease or disorder of limb|disorder of limb|disease of limb|limb disease|disorder of extremity|limb disease or disorder|disorder of limb	http://purl.obolibrary.org/obo/MONDO_0044967	A disease or disorder that involves the limb.	UMLS:C1290877|SNOMEDCT:128605003
MONDO:0044984	nasolacrimal duct disease	biolink:Disease	mondo	SCTID:95767006|UMLS:C0521744		disorder of nasolacrimal duct|disorder of nasolacrimal duct|disease or disorder of nasolacrimal duct|nasolacrimal duct disease or disorder|nasolacrimal duct disease|disease of nasolacrimal duct	http://purl.obolibrary.org/obo/MONDO_0044984	A disease or disorder that involves the nasolacrimal duct.	UMLS:C0521744|SNOMEDCT:95767006
MONDO:0044983	benign lipomatous neoplasm	biolink:Disease	mondo	NCIT:C4502		benign tumor of adipose tissue|benign tumor of the adipose tissue|benign neoplasm of adipose tissue|benign adipose tissue tumor|benign neoplasm of the adipose tissue|adipose tissue benign connective and soft tissue neoplasm|benign lipomatous tumor|benign lipomatous neoplasm|benign adipose tissue neoplasm|benign connective and soft tissue neoplasm of adipose tissue	http://purl.obolibrary.org/obo/MONDO_0044983	A benign mesenchymal neoplasm composed of adipose (fatty) tissue. The most common representative of this category is the lipoma.	NCIT:C4502
MONDO:0044986	lymphoid system disease	biolink:Disease	mondo	SCTID:111590001		disorder of lymphoid system|disorder of lymphoid system|disease or disorder of lymphoid system|lymphoid system disease or disorder|lymphoid system disease|disease of lymphoid system	http://purl.obolibrary.org/obo/MONDO_0044986	A disease or disorder that involves the lymphoid system.	SNOMEDCT:111590001
GO:0007289	spermatid nucleus differentiation	biolink:OntologyClass	mondo			spermatid nuclear differentiation	http://purl.obolibrary.org/obo/GO_0007289	The specialization of the spermatid nucleus during the development of a spermatid into a mature male gamete competent for fertilization.	
GO:0007288	sperm axoneme assembly	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0007288	The assembly and organization of the sperm flagellar axoneme, the bundle of microtubules and associated proteins that forms the core of the eukaryotic sperm flagellum, and is responsible for movement.	
MONDO:0044980	disease of signal transduction	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0044980		
GO:0007286	spermatid development	biolink:OntologyClass	mondo			spermatid cell development|spermiogenesis	http://purl.obolibrary.org/obo/GO_0007286	The process whose specific outcome is the progression of a spermatid over time, from its formation to the mature structure.	
MONDO:0044982	drug pseudoallergy	biolink:Disease	mondo	UMLS:C3662272|SCTID:609398007		drug pseudoallergy|drug allergy	http://purl.obolibrary.org/obo/MONDO_0044982		UMLS:C3662272|SNOMEDCT:609398007
MONDO:0044981	pseudoallergy	biolink:Disease	mondo	SCTID:609397002|ICD9:V15.09|UMLS:C3662273		pseudoallergy to substance	http://purl.obolibrary.org/obo/MONDO_0044981		UMLS:C3662273|SNOMEDCT:609397002
MONDO:0044977	disease of receptor activity	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0044977		
MONDO:0044976	disease of catalytic activity	biolink:Disease	mondo	UMLS:C0520572|SCTID:78548001		enzyme disorder|enzymopathy	http://purl.obolibrary.org/obo/MONDO_0044976		UMLS:C0520572|SNOMEDCT:78548001
MONDO:0044979	disease by cell type	biolink:Disease	mondo		metaclass		http://purl.obolibrary.org/obo/MONDO_0044979		
MONDO:0044978	disease of cell nucleus	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0044978		
HGNC:779	ATCAY	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/779		
GO:0022890	inorganic cation transmembrane transporter activity	biolink:OntologyClass	mondo			divalent inorganic cation transmembrane transporter activity|monovalent inorganic cation transmembrane transporter activity|di-, tri-valent inorganic cation transmembrane transporter activity|trivalent inorganic cation transmembrane transporter activity	http://purl.obolibrary.org/obo/GO_0022890	Enables the transfer of inorganic cations from one side of a membrane to the other. Inorganic cations are atoms or small molecules with a positive charge that do not contain carbon in covalent linkage.	
HGNC:777	ZFHX3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/777		
GO:0032218	riboflavin transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0032218	The directed movement of riboflavin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Riboflavin (vitamin B2) is a water-soluble B-complex vitamin, converted in the cell to FMN and FAD, cofactors required for the function of flavoproteins.	
HGNC:775	SERPINC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/775		
GO:0032217	riboflavin transmembrane transporter activity	biolink:OntologyClass	mondo			riboflavin transporter activity	http://purl.obolibrary.org/obo/GO_0032217	Enables the transfer of riboflavin from one side of a membrane to the other. Riboflavin (vitamin B2) is a water-soluble B-complex vitamin, converted in the cell to FMN and FAD, cofactors required for the function of flavoproteins.	
MONDO:0044995	parasympathetic nervous system disease	biolink:Disease	mondo	SCTID:46091002		disease of parasympathetic nervous system|disorder of parasympathetic nervous system|disorder of parasympathetic nervous system|disease or disorder of parasympathetic nervous system|parasympathetic nervous system disease or disorder|parasympathetic nervous system disease	http://purl.obolibrary.org/obo/MONDO_0044995	A disease or disorder that involves the parasympathetic nervous system.	SNOMEDCT:46091002
MONDO:0044997	midbrain disease	biolink:Disease	mondo	SCTID:95641009|UMLS:C0521655		disease of midbrain|disorder of midbrain|disorder of midbrain|disease or disorder of midbrain|midbrain disease or disorder|midbrain disease	http://purl.obolibrary.org/obo/MONDO_0044997	A disease or disorder that involves the midbrain.	SNOMEDCT:95641009|UMLS:C0521655
MONDO:0044996	cerebral cortex disease	biolink:Disease	mondo	UMLS:C1263847|SCTID:128128003		disease or disorder of cerebral cortex|cerebral cortex disease or disorder|cerebral cortex disease|disease of cerebral cortex|disorder of cerebral cortex|disorder of cerebral cortex	http://purl.obolibrary.org/obo/MONDO_0044996	A disease or disorder that involves the cerebral cortex.	SNOMEDCT:128128003|UMLS:C1263847
MONDO:0044991	upper digestive tract disease	biolink:Disease	mondo	SCTID:119291004		upper gastrointestinal tract disease|disorder of upper gastrointestinal tract|disorder of upper digestive tract|disorder of upper digestive tract|disease or disorder of upper digestive tract|upper digestive tract disease or disorder|disease of upper digestive tract	http://purl.obolibrary.org/obo/MONDO_0044991	A disease or disorder that involves the upper digestive tract.	SNOMEDCT:119291004
MONDO:0044990	hand disease	biolink:Disease	mondo	UMLS:C1290871|SCTID:118933004		hand disease|disorder of manus|disorder of manus|disorder of hand|disease or disorder of manus|manus disease or disorder|manus disease|disease of manus	http://purl.obolibrary.org/obo/MONDO_0044990	A disease or disorder that involves the manus.	UMLS:C1290871|SNOMEDCT:118933004
MONDO:0044993	sympathetic nervous system disease	biolink:Disease	mondo	SCTID:50330009		disease of sympathetic nervous system|disease or disorder of sympathetic nervous system|disorder of sympathetic nervous system|disorder of sympathetic nervous system|sympathetic nervous system disease or disorder|sympathetic nervous system disease	http://purl.obolibrary.org/obo/MONDO_0044993	A disease or disorder that involves the sympathetic nervous system.	SNOMEDCT:50330009
MONDO:0044992	mouth mucosa disease	biolink:Disease	mondo	SCTID:128046007|UMLS:C1290071		disease of mouth mucosa|disorder of mouth mucosa|disease or disorder of mouth mucosa|disorder of mouth mucosa|oral mucous membrane disease|disorder of oral mucous membrane|mouth mucosa disease or disorder	http://purl.obolibrary.org/obo/MONDO_0044992	A disease or disorder that involves the mouth mucosa.	UMLS:C1290071|SNOMEDCT:128046007
MONDO:0044988	hip region disease	biolink:Disease	mondo	SCTID:118935006|UMLS:C1290862		disease of hip|disorder of hip|disorder of hip|disorder of hip region|disease or disorder of hip|hip disease|hip disease or disorder	http://purl.obolibrary.org/obo/MONDO_0044988	A disease or disorder that involves the hip.	SNOMEDCT:118935006|UMLS:C1290862
MONDO:0044987	face disease	biolink:Disease	mondo	SCTID:118930001|UMLS:C1290857		disease of face|disorder of face|disorder of face|disease or disorder of face|face disease or disorder|face disease	http://purl.obolibrary.org/obo/MONDO_0044987	A disease or disorder that involves the face.	SNOMEDCT:118930001|UMLS:C1290857
MONDO:0044989	foot disease	biolink:Disease	mondo	MESH:D005534|UMLS:C0016510|SCTID:118932009		disorder of pes|disorder of pes|disease or disorder of pes|pes disease or disorder|foot disease|pes disease|disease of pes|disorder of foot	http://purl.obolibrary.org/obo/MONDO_0044989	A disease or disorder that involves the pes.	SNOMEDCT:118932009|MESH:D005534|UMLS:C0016510
GO:0019239	deaminase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0019239	Catalysis of the removal of an amino group from a substrate, producing ammonia (NH3).	
GO:0022898	regulation of transmembrane transporter activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0022898	Any process that modulates the frequency, rate or extent of transmembrane transporter activity.	
GO:0019232	perception of rate of movement	biolink:OntologyClass	mondo			kinesthesia	http://purl.obolibrary.org/obo/GO_0019232	The series of events by which an organism senses the speed and direction of movement of the body and its parts.	
GO:0019233	sensory perception of pain	biolink:OntologyClass	mondo			nociception|perception of physiological pain	http://purl.obolibrary.org/obo/GO_0019233	The series of events required for an organism to receive a painful stimulus, convert it to a molecular signal, and recognize and characterize the signal. Pain is medically defined as the physical sensation of discomfort or distress caused by injury or illness, so can hence be described as a harmful stimulus which signals current (or impending) tissue damage. Pain may come from extremes of temperature, mechanical damage, electricity or from noxious chemical substances. This is a neurological process.	
GO:0019230	proprioception	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0019230	The series of events by which an organism senses the position, location, orientation, and movement of the body and its parts. Proprioception is mediated by proprioceptors, sensory nerve terminals found in muscles, tendons, and joint capsules, which give information concerning movements and position of the body. The receptors in the labyrinth are sometimes also considered proprioceptors.	
GO:0007268	chemical synaptic transmission	biolink:OntologyClass	mondo			synaptic transmission|signal transmission across a synapse|neurotransmission	http://purl.obolibrary.org/obo/GO_0007268	The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse.	
GO:0007267	cell-cell signaling	biolink:OntologyClass	mondo			cell-cell signalling	http://purl.obolibrary.org/obo/GO_0007267	Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell.  Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions.	
GO:0007265	Ras protein signal transduction	biolink:OntologyClass	mondo			Ras mediated signal transduction	http://purl.obolibrary.org/obo/GO_0007265	A series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state.	
GO:0007264	small GTPase mediated signal transduction	biolink:OntologyClass	mondo			small GTPase-mediated signal transduction	http://purl.obolibrary.org/obo/GO_0007264	Any series of molecular signals in which a small monomeric GTPase relays one or more of the signals.	
GO:0007272	ensheathment of neurons	biolink:OntologyClass	mondo			ionic insulation of neurons by glial cells	http://purl.obolibrary.org/obo/GO_0007272	The process in which glial cells envelop neuronal cell bodies and/or axons to form an insulating layer. This can take the form of myelinating or non-myelinating ensheathment.	
MONDO:0044999	scalp disease	biolink:Disease	mondo	UMLS:C0406629|SCTID:238922006		scalp disease or disorder|scalp disease|disease of scalp|disorder of scalp|disorder of scalp|disease or disorder of scalp	http://purl.obolibrary.org/obo/MONDO_0044999	A disease or disorder that involves the scalp.	UMLS:C0406629|SNOMEDCT:238922006
MONDO:0044998	carpal region disease	biolink:Disease	mondo	UMLS:C1290872|SCTID:128130001		wrist region disease|disorder of wrist region|disorder of carpal region|disorder of carpal region|disease or disorder of carpal region|carpal region disease or disorder|disease of carpal region	http://purl.obolibrary.org/obo/MONDO_0044998	A disease or disorder that involves the carpal region.	SNOMEDCT:128130001|UMLS:C1290872
GO:0046835	carbohydrate phosphorylation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0046835	The process of introducing a phosphate group into a carbohydrate, any organic compound based on the general formula Cx(H2O)y.	
MONDO:0005449	conduction system disorder	biolink:Disease	mondo	EFO:0005137		disorder of conducting system of heart|disorder of conducting system of heart|disease or disorder of conducting system of heart|conducting system of heart disease|disease of conducting system of heart|conducting system of heart disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005449	A disease involving the conducting system of heart.	
MONDO:0005446	cutaneous leishmaniasis	biolink:Disease	mondo	NCIT:C34770|EFO:0005046|MESH:D016773|ICD10:B55.1|UMLS:C0023283|SCTID:186807008|DOID:9111|ICD9:085.2		Asian desert cutaneous leishmaniasis|zone of skin leishmaniasis|leproid leishmaniasis|diffuse cutaneous leishmaniasis	http://purl.obolibrary.org/obo/MONDO_0005446	Leishmaniasis affecting the skin. It is the most common form of leishmaniasis. It presents with erythematous macules and papules, and nodules which may eventually ulcerate. The lesions appear in the bite site in the exposed skin areas.	SNOMEDCT:186807008|NCIT:C34770|UMLS:C0023283|DOID:9111|MESH:D016773
MONDO:0005445	visceral leishmaniasis	biolink:Disease	mondo	SCTID:186803007|NCIT:C34771|MESH:D007898|COHD:200652|ICD9:085.0|UMLS:C0023290|ICD10:B55.0|EFO:0005045|OMIMPS:608207|DOID:9146		kala-azar|kala-azar, susceptibility to|kala-azar susceptibility|infection by visceral leishmaniasis|viscus leishmaniasis	http://purl.obolibrary.org/obo/MONDO_0005445	A severe form of leishmaniasis characterized by irregular bouts of fever, substantial weight loss, swelling of the spleen and liver, and anaemia (which may be serious). If left untreated it may lead to death. Two species of Leishmania are known to give rise to the visceral form of the disease. The species commonly found in East Africa and the Indian subcontinent is L. donovani and the species found in Europe, North Africa, and Latin America is L. infantum, also known as L. chagasi.	NCIT:C34771|UMLS:C0023290|MESH:D007898|DOID:9146|SNOMEDCT:186803007
MONDO:0005448	hepatitis C induced liver cirrhosis	biolink:Disease	mondo	EFO:0005129			http://purl.obolibrary.org/obo/MONDO_0005448	Liver injury resulting from hepatitis C infection.	
MONDO:0005447	testicular cancer	biolink:Disease	mondo	NCIT:C7251|DOID:2998|MESH:D013736|ICD10:C62.9|ICD10:C62.90|GARD:0007746|ICD9:186|ICD9:186.9|EFO:0005088|SCTID:363449006|ICD10:C62		malignant testicular neoplasm|malignant tumor of the testis|malignant testis neoplasm|pediatric testicular neoplasm|childhood neoplasm of the testis|malignant neoplasm of testis|testicular tumor|cancer of testis|malignant neoplasm of the testis|testis cancer|testis neoplasm|malignant testicular tumor|malignant tumor of testis|neoplasm of testis	http://purl.obolibrary.org/obo/MONDO_0005447	A primary or metastatic malignant neoplasm that affects the testis. Representative examples include seminoma, embryonal carcinoma, sarcoma, leukemia, and lymphoma.	SNOMEDCT:363449006|MESH:D013736|NCIT:C7251|DOID:2998
MONDO:0005442	type 1 diabetes nephropathy	biolink:Disease	mondo	EFO:0004996			http://purl.obolibrary.org/obo/MONDO_0005442	Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 1 diabetes hyperglycaemia starts in the first decades of life and is usually the only recognized cause of nephropathy.	
MONDO:0005441	otitis media (disease)	biolink:Disease	mondo	ICD10:H66.9|ICD9:382.9|DOID:10754|ICD10:H66.90|EFO:0004992|SCTID:65363002|HP:0000388|NCIT:C34885|MESH:D010033|COHD:372328|UMLS:C0029882		middle Ear Inflammation|medial otitis|middle ear inflammation|otitis Media|inflammation of middle ear	http://purl.obolibrary.org/obo/MONDO_0005441	Inflammation of the anatomical structures of the middle ear, which is most often caused by an infectious process. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever.	NCIT:C34885|MESH:D010033|UMLS:C0029882|SNOMEDCT:65363002|DOID:10754
MONDO:0005444	obsolete leishmaniasis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005444		
MONDO:0005443	type 2 diabetes nephropathy	biolink:Disease	mondo	EFO:0004997			http://purl.obolibrary.org/obo/MONDO_0005443	Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 2 diabetes hyperglycaemia starts after the forties, usually when the kidneys have already suffered the long‐term consequences of ageing and of other recognized promoters of chronic renal injury such as arterial hypertension, obesity, dyslipidaemia, and smoking.	
MONDO:0005440	embryonal carcinoma	biolink:Disease	mondo	ONCOTREE:EMBCA|ICDO:9070/3|EFO:0004986|MESH:D018236|DOID:3308|ICD10:C22.7|Orphanet:180226|ICD10:C71.9|UMLS:C0206659|NCIT:C3752|GARD:0005140	gard_rare|ordo_disease	carcinoma, embryonal, malignant|embryonal carcinoma|primary extragonadal embryonal carcinoma	http://purl.obolibrary.org/obo/MONDO_0005440	A non-seminomatous malignant germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum).	ORPHA:180226|UMLS:C0206659|DOID:3308|MESH:D018236|NCIT:C3752
UBERON:0002085	interatrial septum	biolink:AnatomicalEntity	mondo			atrium septum|interatrial septal wall|atrial septum	http://purl.obolibrary.org/obo/UBERON_0002085	A cardiac septum that divides the left and right atria of the heart.	
MONDO:0017439	tetra-amelia	biolink:Disease	mondo	Orphanet:294971|GARD:0005148|ICD10:Q73.0|MESH:C536498|HP:0003057|SCTID:702313004	ordo_morphological_anomaly	tetra-amelia, autosomal recessive|total amelia|Tetraamelia, autosomal recessive|tetra-amelia syndrome	http://purl.obolibrary.org/obo/MONDO_0017439		SNOMEDCT:702313004|MESH:C536498|ORPHA:294971
UBERON:0002084	heart left ventricle	biolink:AnatomicalEntity	mondo			left ventricle|left ventricle of heart|left cardiac ventricle|ventriculus sinister cordis|cardiac left ventricle	http://purl.obolibrary.org/obo/UBERON_0002084	A cardiac ventricle that is in the left side of the heart.	
MONDO:0017435	popliteal pterygium syndrome	biolink:Disease	mondo	NCIT:C118786|MESH:C562509|ICD9:756.89|DOID:0060055|SCTID:66783006|Orphanet:294963|UMLS:C0265259	ordo_group_of_disorders	PPS|facio-genito-popliteal syndrome|popliteal web syndrome	http://purl.obolibrary.org/obo/MONDO_0017435	A rare, autosomal dominant inherited syndrome caused by mutations in the IRF6 gene. It is characterized by the presence of cleft palate, cleft lip, pits in the lower lip, web behind the knee (popliteal pterygium), syndactyly, cryptorchidism, scrotal malformation, and hypoplasia of the labia majora.	SNOMEDCT:66783006|NCIT:C118786|UMLS:C0265259|DOID:0060055|ORPHA:294963|MESH:C562509
UBERON:0002081	cardiac atrium	biolink:AnatomicalEntity	mondo			atria|cardiac atria|atrium|heart atrium|atrial tissue|atrium of heart	http://purl.obolibrary.org/obo/UBERON_0002081	Cardiac chamber in which blood enters the heart.	
UBERON:0002080	heart right ventricle	biolink:AnatomicalEntity	mondo			ventriculus dexter|cardiac right ventricle|right cardiac ventricle|right ventricle of heart|right ventricle	http://purl.obolibrary.org/obo/UBERON_0002080	A cardiac ventricle that is in the right side of the heart.	
MONDO:0017436	lethal congenital contracture syndrome	biolink:Disease	mondo	Orphanet:294965|ICD10:Q68.8|OMIMPS:253310|UMLS:CN239241|GARD:0012643|DOID:0060558	ordo_group_of_disorders	LCCS	http://purl.obolibrary.org/obo/MONDO_0017436	A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.	DOID:0060558|ORPHA:294965|UMLS:CN239241
MONDO:0017437	amelia of upper limb	biolink:Disease	mondo	SCTID:205306000|ICD10:Q71.0|Orphanet:294967|HP:0009812	ordo_morphological_anomaly	forelimb non-syndromic amelia|non-syndromic amelia of forelimb	http://purl.obolibrary.org/obo/MONDO_0017437	A non-syndromic amelia that involves the forelimb.	ORPHA:294967|SNOMEDCT:205306000
MONDO:0017438	amelia of lower limb	biolink:Disease	mondo	HP:0009818|Orphanet:294969|SCTID:265798000|ICD10:Q72.0	ordo_morphological_anomaly	hindlimb non-syndromic amelia|non-syndromic amelia of hindlimb	http://purl.obolibrary.org/obo/MONDO_0017438	A non-syndromic amelia that involves the hindlimb.	SNOMEDCT:265798000|ORPHA:294969
UBERON:0002082	cardiac ventricle	biolink:AnatomicalEntity	mondo			heart ventricle|ventricle|lower chamber of heart|ventricle of heart	http://purl.obolibrary.org/obo/UBERON_0002082	Cardiac chamber through which blood leaves the heart.	
MONDO:0017431	non-syndromic limb overgrowth	biolink:Disease	mondo	Orphanet:294953	ordo_group_of_disorders	limb overgrowth	http://purl.obolibrary.org/obo/MONDO_0017431		ORPHA:294953
MONDO:0017432	syndrome with limb reduction defects	biolink:Disease	mondo	Orphanet:294955|UMLS:CN203180	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017432		ORPHA:294955|UMLS:CN203180
MONDO:0017433	obsolete dysostosis with combined reduction defects of upper and lower limbs	biolink:Disease	mondo	Orphanet:294957	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017433		ORPHA:294957
MONDO:0017434	syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	biolink:Disease	mondo	Orphanet:294959|UMLS:CN203181	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017434		ORPHA:294959|UMLS:CN203181
NCBITaxon:32443	Teleostei	organism taxon	mondo	GC_ID:1		teleost fishes	http://purl.obolibrary.org/obo/NCBITaxon_32443		
MONDO:0017430	non-syndromic congenital joint dislocations	biolink:Disease	mondo	Orphanet:294951	ordo_group_of_disorders	congenital joint dislocations	http://purl.obolibrary.org/obo/MONDO_0017430		ORPHA:294951
MONDO:0005457	obsolete acute stress reaction	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005457		
MONDO:0005456	obsolete avian influenza	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005456		
NCBITaxon:44417	Cyclospora	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_44417		
MONDO:0005459	human African trypanosomiasis	biolink:Disease	mondo	NCIT:C84541|ICD9:086.5|MedDRA:10001461|GARD:0007826|ICD10:B56|EFO:0005225|UMLS:C0041228|DOID:10112|SCTID:27031003|Orphanet:3385|ICD10:B56.1|ICD10:B56.9|MESH:D014353|KEGG:05143|ICD10:B56.0	ordo_disease	African sleeping sickness|Africam sleeping sickness|African trypanosomiasis|sleeping sickness	http://purl.obolibrary.org/obo/MONDO_0005459	A parasitic disorder caused by protozoa of the Trypanosoma brucei species. It is transmitted by flies and is endemic in various regions of Sub-Saharan Africa. Signs and symptoms include fever, joint pain, headache, and significant swelling of the lymph nodes. If left untreated, the parasitic infection causes anemia, heart, kidney, and endocrine failure, and neurologic damage. Subsequently patients develop confusion, disruption of the sleep cycle, and mental deterioration. The infection may lead to coma and death.	SNOMEDCT:27031003|UMLS:C0041228|DOID:10112|NCIT:C84541|MEDDRA:10001461|ORPHA:3385|MESH:D014353
MONDO:0005458	obsolete q fever	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005458		
MONDO:0005453	congenital heart disease	biolink:Disease	mondo	COHD:312723|MESH:D006330|UMLS:CN169364|ICD9:746.89|ICD9:746.9|ICD10:Q24.9|SCTID:13213009|ICD9:746.84|NCIT:C95834|DOID:1682|EFO:0005207		heart-congenital defect|heart, malformation Of|heart defect, congenital|heart defect|defects, congenital heart|congenital heart defects|defect, congenital heart|abnormalities, heart|Abnormality, heart|heart abnormality|heart abnormalities|heart malformation|congenital anomaly of heart|congenital heart defect	http://purl.obolibrary.org/obo/MONDO_0005453	A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale.	SNOMEDCT:13213009|MESH:D006330|UMLS:CN169364|DOID:1682|NCIT:C95834
MONDO:0005452	bulimia nervosa	biolink:Disease	mondo	MESH:D052018|EFO:0005204|COHD:438407|ICD9:307.51|SCTID:78004001|NCIT:C34440|DOID:12129|ICD10:F50.2		hyperorexia nervosa|bulimia	http://purl.obolibrary.org/obo/MONDO_0005452	A disorder characterized by recurrent episodes of binge-eating over which the individual feels a lack of control; these episodes of binge-eating are followed by recurrent compensatory behavior to prevent weight gain, usually self-induced vomiting. In addition, self-evaluation is unduly influenced by body image.	SNOMEDCT:78004001|MESH:D052018|DOID:12129|NCIT:C34440
MONDO:0005455	obsolete cholangiocarcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005455		
MONDO:0005454	lung neuroendocrine neoplasm	biolink:Disease	mondo	NCIT:C5670|ONCOTREE:LNET|DOID:5410|EFO:0005220|ICD9:209.61|SCTID:707594002|UMLS:C1334452		lung neuroendocrine neoplasm|neuroendocrine neoplasm of the lung|lung neuroendocrine tumor|pulmonary neuroendocrine tumor|pulmonary neuroendocrine neoplasm|lung NET|neuroendocrine neoplasm of lung|lung neuroendocrine tumor, well differentiated, low or intermediate grade|lung neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0005454	A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma.	SNOMEDCT:707594002|NCIT:C5670|UMLS:C1334452|DOID:5410
MONDO:0005451	eating disorder	biolink:Disease	mondo	ICD9:307.59|EFO:0005203|NCIT:C89332|DOID:8670|ICD10:F50|ICD9:307.50|COHD:439002|ICD10:F50.9|SCTID:72366004		eating disorder	http://purl.obolibrary.org/obo/MONDO_0005451	A broad group of psychological disorders with abnormal eating behaviors leading to physiological effects from overeating or insufficient food intake.	SNOMEDCT:72366004|DOID:8670|NCIT:C89332
MONDO:0005450	obsolete autoimmune disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005450		
HP:0006504	obsolete Anomaly of the limb diaphyses morphology	biolink:PhenotypicFeature	mondo			Abnormality of shaft of long bone of the limbs	http://purl.obolibrary.org/obo/HP_0006504		
MONDO:0017428	congenital deformities of fingers	biolink:Disease	mondo	Orphanet:294947|ICD10:Q68.1	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017428		ORPHA:294947
UBERON:0002074	hair shaft	biolink:AnatomicalEntity	mondo			shaft of hair|scapus pili	http://purl.obolibrary.org/obo/UBERON_0002074	The main part of the hair which is composed of trichocytes and is divided into the cortex and medulla.	
MONDO:0017429	joint formation defects	biolink:Disease	mondo	Orphanet:294949	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017429		ORPHA:294949
UBERON:0002073	hair follicle	biolink:AnatomicalEntity	mondo			folliculus pili	http://purl.obolibrary.org/obo/UBERON_0002073	A tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open[GO].	
UBERON:0002076	cuticle of hair	biolink:AnatomicalEntity	mondo			hair cuticle	http://purl.obolibrary.org/obo/UBERON_0002076	smooth and glossy outer protective cell layer of hair shaft	
UBERON:0002075	viscus	biolink:AnatomicalEntity	mondo			Organsystem@de|viscera|visceral organ|splanchnic tissue|visceral tissue|visceral organ system	http://purl.obolibrary.org/obo/UBERON_0002075	An organ that is located within the body cavity (or in its extension, in the scrotum); it consists of organ parts that are embryologically derived from endoderm, splanchnic mesoderm or intermediate mesoderm; together with other organs, the viscus constitutes the respiratory, gastrointestinal, urinary, reproductive and immune systems, or is the central organ of the cardiovascular system. Examples: heart, lung, esophagus, kidney, ovary, spleen.	
MONDO:0017424	non-syndromic brachydactyly	biolink:Disease	mondo	SCTID:43476002|Orphanet:294937	ordo_group_of_disorders	isolated brachydactyly|nonsyndromic brachydactyly|brachydactyly	http://purl.obolibrary.org/obo/MONDO_0017424		UMLS:C0221357|SNOMEDCT:43476002|ORPHA:294937
MONDO:0017425	preaxial polydactyly of fingers	biolink:Disease	mondo	GARD:0012767|Orphanet:294939|DC:0000362|ICD10:Q69.1|OMIMPS:174400	ordo_group_of_disorders|gard_rare	preaxial polydactyly of hand	http://purl.obolibrary.org/obo/MONDO_0017425	Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers. Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity.	ORPHA:294939
UBERON:0002072	hypodermis	biolink:AnatomicalEntity	mondo			hypoderm|sub-tegumental tissue|subcutaneous tissue|subtegumental tissue|vertebrate hypodermis|subcutis|tela subcutanea|superficial fascia	http://purl.obolibrary.org/obo/UBERON_0002072	Lowermost layer of the integumentary system in vertebrates. Types of cells that are found in the hypodermis are fibroblasts, adipose cells, and macrophages. It is derived from the mesoderm, but unlike the dermis, it is not derived from the dermatome region of the mesoderm. The hypodermis is used mainly for fat storage[WP].	
MONDO:0017426	postaxial polydactyly of fingers	biolink:Disease	mondo	ICD10:Q69.0|SCTID:205131007|GARD:0012460|Orphanet:294942	ordo_group_of_disorders	postaxial polydactyly of hand	http://purl.obolibrary.org/obo/MONDO_0017426		SNOMEDCT:205131007|ORPHA:294942
MONDO:0017427	congenital deformities of limbs	biolink:Disease	mondo	MedDRA:10024500|Orphanet:294944	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017427		MEDDRA:10024500|UMLS:C0206762|ORPHA:294944
MONDO:0017420	intercalary limb defects	biolink:Disease	mondo	Orphanet:294927	ordo_group_of_disorders	intercalary meromelia	http://purl.obolibrary.org/obo/MONDO_0017420		ORPHA:294927
MONDO:0017421	non-syndromic terminal limb defects	biolink:Disease	mondo	Orphanet:294929	ordo_group_of_disorders	isolated terminal limb defects|terminal meromelia|nonsyndromic terminal limb defects|terminal limb defects	http://purl.obolibrary.org/obo/MONDO_0017421		ORPHA:294929
MONDO:0017422	adactyly of hand	biolink:Disease	mondo	ICD10:Q71.3|Orphanet:294931	ordo_group_of_disorders	fingers absent	http://purl.obolibrary.org/obo/MONDO_0017422		ORPHA:294931
MONDO:0017423	split hand or/and split foot malformation	biolink:Disease	mondo	ICD10:Q72.7|Orphanet:294935|ICD10:Q71.6	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017423		ORPHA:294935
UBERON:0002078	right cardiac atrium	biolink:AnatomicalEntity	mondo			cardiac right atrium|right cardiac atrium|atrium dextrum|right atrium of heart|right atrium|heart right atrium	http://purl.obolibrary.org/obo/UBERON_0002078	A cardiac atrium that is in the left side of the heart. It receives deoxygenated blood. In mammals, this comes from the superior and inferior vena cava and the coronary sinus, and pumps it into the right ventricle through the tricuspid valve.	
UBERON:0002077	cortex of hair	biolink:AnatomicalEntity	mondo			coat/hair cortex|hair cortex|coat hair cortex|cortex of coat hair|cortex of coat/hair	http://purl.obolibrary.org/obo/UBERON_0002077	A cortex that is part of a hair [Automatically generated definition].	
UBERON:0002079	left cardiac atrium	biolink:AnatomicalEntity	mondo			left cardiac atrium|left atrium|atrium sinistrum|cardiac left atrium|left atrium of heart|heart left atrium	http://purl.obolibrary.org/obo/UBERON_0002079	A cardiac atrium that is in the left side of the heart. It receives oxygenated blood from the pulmonary veins, In mammals this is pumped into the left ventricle, via the Mitral valve.	
MONDO:0005428	obsolete pemphigus vulgaris	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005428		
MONDO:0005427	obsolete vasuclar dementia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005427		
MONDO:0005429	prion disease	biolink:Disease	mondo	DOID:649|NCIT:C128346|EFO:0004720|ICD10:A81.9|MESH:D017096|SCTID:230284004|ICD9:046.19|KEGG:05020		prion disease pathway|prion induced disorder|spongiform encephalopathy|prion protein disease|transmissible spongiform encephalopathy	http://purl.obolibrary.org/obo/MONDO_0005429	A transmissible disease that is caused by a protein that is able to induce abnormal folding of normal cellular proteins, leading to characteristic spongiform brain changes, which are associated with neuronal loss without an inflammatory response. Such disorders have typically long incubation periods, but are then generally rapidly progressive and are uniformly fatal.	DOID:649|NCIT:C128346|SNOMEDCT:230284004|MESH:D017096
MONDO:0005424	elephantiasis	biolink:Disease	mondo	EFO:0004711|MESH:D004604|UMLS:C0013882|DOID:4976		elephantiasis NOS	http://purl.obolibrary.org/obo/MONDO_0005424	Enlargement of an area of the body due to obstruction within the lymphatic system and the resulting accumulation of lymph.	NCIT:C34569|UMLS:C0013882|DOID:4976|MESH:D004604
MONDO:0005423	obsolete pelvic organ prolapse	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005423		
MONDO:0005426	MRI defined brain infarct	biolink:Disease	mondo	EFO:0004715			http://purl.obolibrary.org/obo/MONDO_0005426	An infarct detected by MRI and not determined to be clinically significant	
MONDO:0005425	podoconiosis	biolink:Disease	mondo	SCTID:47595008|EFO:0004712|ICD9:457.1|DOID:0050138		nonfilarial elephantiasis|soil elephantiasis|non-filarial elephantiasis|elephantiasis from soil	http://purl.obolibrary.org/obo/MONDO_0005425	A disease of the lymphatic vessels of the lower extremities that is caused by chronic exposure to irritant soils.	SNOMEDCT:47595008|DOID:0050138
MONDO:0005420	hypothyroidism	biolink:Disease	mondo	COHD:140673|DOID:1459|EFO:0004705|ICD9:244.9|NCIT:C26800|SCTID:40930008|ICD10:E03.9|MESH:D007037		thyroid deficiency|underactive thyroid|thyroid insufficiency|hypothyroid|hypothyroidism	http://purl.obolibrary.org/obo/MONDO_0005420	Abnormally low levels of thyroid hormone.	MESH:D007037|DOID:1459|SNOMEDCT:40930008|NCIT:C26800
MONDO:0005422	obsolete nodular sclerosis Hodgkin lymphoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005422	A distinct, highly heritable Hodgkin lymphoma subtype.	
HGNC:27561	TSEN54	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/27561		
MONDO:0005421	obsolete infantile hypertrophic pyloric stenosis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005421		
MONDO:0017417	renal-hepatic-pancreatic dysplasia	biolink:Disease	mondo	UMLS:C2673883|DOID:0060259|Orphanet:294415|OMIMPS:208540|SCTID:763891005	ordo_malformation_syndrome	Renohepaticopancreatic dysplasia|Ivemark's syndrome|Ivemark II syndrome	http://purl.obolibrary.org/obo/MONDO_0017417	Renal-hepatic-pancreatic dysplasia is a rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendancy to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependant diabetes.	SNOMEDCT:763891005|ORPHA:294415|DOID:0060259|UMLS:C2673883
UBERON:0002063	sinus venosus	biolink:AnatomicalEntity	mondo			sinus venosus cordis|inflow tract|venosus|sinus venarum|venarum sinus|venarum	http://purl.obolibrary.org/obo/UBERON_0002063	The sinus venosus is a large cardiac chamber at the inflow tract that receives venous blood from systemic circulation. precedes the atrium on the venous side of the chordate heart.	
MONDO:0017418	chronic intestinal failure	biolink:Disease	mondo	SCTID:716665002|UMLS:C4274352|Orphanet:294422|UMLS:CN203168	ordo_clinical_syndrome	CIF	http://purl.obolibrary.org/obo/MONDO_0017418	Chronic intestinal failure (CIF) is a chronic type of intestinal failure characterized by a nonfunctioning small bowel (that may be reversible or irreversal) where the body is unable to maintain energy and nutritional needs through absorption of food or nutrients via the intestinal tract (despite being metabolically stable) and which therefore necessitates long-term parenteral feeding. CIF may be the result of congenital digestive diseases (such as gastroschisis, atresia of small intestine), short bowel syndrome, intra-abdominal or pelvic cancer, or progressive and devastating gastrointestinal or systemic benign diseases (such as Crohn disease).	UMLS:CN203168|UMLS:C4274352|SNOMEDCT:716665002|ORPHA:294422
UBERON:0002062	endocardial cushion	biolink:AnatomicalEntity	mondo			endocardial cushions|cardiac cushion|atrioventricular cushion|AV cushion|endocardial cushion tissue|atrioventricular canal cushion	http://purl.obolibrary.org/obo/UBERON_0002062	The endocardial cushion is a specialized region of mesenchymal cells that will give rise to the heart septa and valves[GO]. Swellings of tissue present between the endocardial and myocardial cell layers that will give rise to the interstitial cells of the cardiac valves[ZFA].	
MONDO:0017419	non-syndromic amelia	biolink:Disease	mondo	MedDRA:10001926|SCTID:62588002|Orphanet:294925|NCIT:C34370|HP:0009827|ICD10:Q73.0	ordo_group_of_disorders	isolated amelia|nonsyndromic amelia|amelia	http://purl.obolibrary.org/obo/MONDO_0017419	A congenital malformation characterized by the complete absence of all limbs.	MEDDRA:10001926|UMLS:C0002447|NCIT:C34370|SNOMEDCT:62588002|ORPHA:294925
MONDO:0017413	Reunion island Larsen syndrome	biolink:Disease	mondo	Orphanet:294049|ICD10:Q74.8|UMLS:CN203163|EFO:0002319	ordo_disease	RLS|multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0017413		ORPHA:294049|UMLS:CN203163
MONDO:0017414	obsolete rare nevus	biolink:Disease	mondo	Orphanet:294057	obsoletion_candidate|ordo_group_of_disorders	rare melanocytic nevus|rare nevus	http://purl.obolibrary.org/obo/MONDO_0017414	Rare nevus.	ORPHA:294057
MONDO:0017415	multiple pterygium syndrome	biolink:Disease	mondo	ICD10:Q79.8|ICD9:755.8|DOID:0080110|SCTID:205819008|Orphanet:294060|MESH:C537377	ordo_group_of_disorders	pterygium syndrome	http://purl.obolibrary.org/obo/MONDO_0017415		DOID:0080110|MESH:C537377|UMLS:C0265261|ORPHA:294060|SNOMEDCT:205819008
ECTO:0000173	corticosteroid exposure	biolink:OntologyClass	mondo			exposure to corticosteroid|exposure to corticosterone	http://purl.obolibrary.org/obo/ECTO_0000173	An exposure to corticosterone.	
UBERON:0002061	truncus arteriosus	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0002061	The truncus arteriosus and bulbus cordis are divided by the aorticopulmonary septum. The truncus arteriosus gives rise to the ascending aorta and the pulmonary trunk. The bulbus cordis gives rise to the smooth parts (outflow tract) of the left and right ventricles.	
MONDO:0017416	postpoliomyelitis syndrome	biolink:Disease	mondo	Orphanet:2942|DOID:4952|SCTID:31097004|UMLS:C0080040|MESH:D016262|ICD10:G14|GARD:0004454|EFO:0007454	ordo_disease	post-polio sequelae|post-polio muscular atrophy|postpolio syndrome|polio late effects|postpoliomyelitic syndrome|postpoliomyelitis sequelae|post-poliomyelitic syndrome|post polio syndrome|postpoliomyelitis syndrome|postpolio sequelae	http://purl.obolibrary.org/obo/MONDO_0017416	Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis, 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing.	SNOMEDCT:31097004|ORPHA:2942|DOID:4952|UMLS:C0080040|MESH:D016262
UBERON:0002060	femoral artery	biolink:AnatomicalEntity	mondo			arteria femoralis	http://purl.obolibrary.org/obo/UBERON_0002060	The femoral artery is a large artery in the muscles of the thigh. It is a continuation of external iliac artery where it enters the femoral triangle at the mid inguinal point behind the inguinal ligament. It leaves femoral triangle through apex beneath the sartorius muscle. It enters the popliteal fossa by passing through the 5th osseo-aponeurotic(adductor hiatus) opening of adductor magnus where it becomes the Popliteal Artery. [WP,unvetted].	
MONDO:0017410	porencephaly	biolink:Disease	mondo	ICD10:Q04.6|OMIMPS:175780|MESH:D065708|Orphanet:2940|MedDRA:10036172|DOID:0060263|HP:0002132|GARD:0007430	ordo_disease|gard_rare		http://purl.obolibrary.org/obo/MONDO_0017410	Porencephaly is characterized by a circumscribed intracerebral cavity of variable size that may be bordered by abnormal polymicrogyric grey matter. In extreme cases, this cavity may result in a communication between the pial surface and the ventricle; this is termed schizencephaly.	MEDDRA:10036172|ORPHA:2940|MESH:D065708|DOID:0060263
MONDO:0017411	neonatal inflammatory skin and bowel disease	biolink:Disease	mondo	DC:0000674|Orphanet:294023|UMLS:CN228266|OMIMPS:614328	ordo_disease	inflammatory skin and bowel disease, neonatal	http://purl.obolibrary.org/obo/MONDO_0017411	Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis.	ORPHA:294023|UMLS:CN228266
MONDO:0017412	2q31.1 microduplication syndrome	biolink:Disease	mondo	Orphanet:294026|ICD10:Q92.3|UMLS:CN203162	ordo_malformation_syndrome	trisomy 2q31.1|dup(2)(q31.1)	http://purl.obolibrary.org/obo/MONDO_0017412		ORPHA:294026|UMLS:CN203162
UBERON:0002067	dermis	biolink:AnatomicalEntity	mondo			vertebrate dermis|cutis|corium	http://purl.obolibrary.org/obo/UBERON_0002067	The dermis is a layer of skin between the epidermis (with which it makes up the skin) and subcutaneous tissues, and is composed of two layers, the papillary and reticular dermis[WP].	
UBERON:0002069	stratum granulosum of epidermis	biolink:AnatomicalEntity	mondo			stratum granulosum|epidermis stratum granulosum|granular layer of epidermis|epidermis granular layer	http://purl.obolibrary.org/obo/UBERON_0002069	the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis	
UBERON:0002068	urachus	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0002068	A fibrous remnant of the allantoic stalk, a narrow fetal canal connecting the apex of the urinary bladder with the umbilicus located in the space of Retzius, between the transversalis fascia anteriorly and the peritoneum posteriorly. its lumen is normally obliterated during development, transforming the urachus into a solid cord, a functionless remnant that persists throughout life as the median umbilical ligament; failure of complete lumen obliteration may result in distinct congenital urachal remnant anomalies[MP].	
MONDO:0005439	familial hypercholesterolemia	biolink:Disease	mondo	DOID:13810|EFO:0004911|OMIMPS:143890|SCTID:190773008|UMLS:CN118841|NCIT:C34704|ICD10:E78.0|ICD9:V19.8		familial hyperbetalipoproteinaemia|type II hyperlipidemia|hyperlipoproteinemia type II|Fredrickson type IIa lipidaemia|familial hypercholesteremia|Fredrickson type IIa hyperlipoproteinemia|hyperbetalipoproteinemia	http://purl.obolibrary.org/obo/MONDO_0005439	An inheritable form of hyperlipidemia, in which there are excess lipids in the blood.	UMLS:CN118841|NCIT:C34704|SNOMEDCT:190773008|DOID:13810
MONDO:0005438	metastatic malignant neoplasm in the lymph nodes	biolink:Disease	mondo	NCIT:C4904|UMLS:C0686619|EFO:0004906		metastatic neoplasm to the lymph node|metastatic tumor to lymph node|metastasis to lymph node|metastatic malignant neoplasm to the lymph nodes|Metastases to lymph nodes	http://purl.obolibrary.org/obo/MONDO_0005438	The spread of a malignant neoplasm to the lymph nodes.	NCIT:C4904|UMLS:C0686619
MONDO:0005435	anti-neutrophil antibody associated vasculitis	biolink:Disease	mondo	EFO:0004826			http://purl.obolibrary.org/obo/MONDO_0005435	Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls.	
MONDO:0005434	skin sensitivity to sun	biolink:Disease	mondo	EFO:0004795			http://purl.obolibrary.org/obo/MONDO_0005434	The response of human skin to sun exposure.	
MONDO:0005437	testicular dysgenesis syndrome	biolink:Disease	mondo	SCTID:445338005|EFO:0004893|UMLS:C2919755			http://purl.obolibrary.org/obo/MONDO_0005437	A syndrome comprising testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis.	UMLS:C2919755|SNOMEDCT:445338005
MONDO:0005436	postoperative ventricular dysfunction	biolink:Disease	mondo	EFO:0004889			http://purl.obolibrary.org/obo/MONDO_0005436	Postoperative ventricular dysfunction (VnD) occurs in 9-20% of coronary artery bypass graft (CABG) surgical patients and is associated with increased postoperative morbidity and mortality.	
MONDO:0005431	obsolete toxic epidermal necrolysis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005431		
MONDO:0005430	early onset hypertension	biolink:Disease	mondo	EFO:0004772			http://purl.obolibrary.org/obo/MONDO_0005430	A form of hypertension with early onset relative to normal range for a given population.	
MONDO:0005433	alcohol withdrawal	biolink:Disease	mondo	SCTID:191480000|EFO:0004777|UMLS:C0236663|ICD9:291.81		alcohol withdrawal syndrome	http://purl.obolibrary.org/obo/MONDO_0005433		UMLS:C0236663|SNOMEDCT:191480000
MONDO:0005432	alcohol and nicotine codependence	biolink:Disease	mondo	EFO:0004776			http://purl.obolibrary.org/obo/MONDO_0005432	A drug dependence that is the physiological result of being addicted to alcohol and nicotine.	
UBERON_CORE:extends_fibers_into	extends_fibers_into	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/uberon/core#extends_fibers_into		
UBERON:0002052	adrenal gland capsule	biolink:AnatomicalEntity	mondo			capsule of adrenal gland|adrenal capsule	http://purl.obolibrary.org/obo/UBERON_0002052	the thick capsule of dense irregular connective tissue that surrounds each adrenal gland and contains scattered elastic fibers; the capsule contains a rich plexus of blood vessels (mainly small arteries) and numerous nerve fibers; some blood vessels and nerves enter the substance of the gland in the trabeculae that extend inward from the capsule and then leave the trabeculae to enter the cortex.	
MONDO:0017406	hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome	biolink:Disease	mondo	UMLS:CN203156|Orphanet:293967	ordo_malformation_syndrome	hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome	http://purl.obolibrary.org/obo/MONDO_0017406		ORPHA:293967|UMLS:CN203156
UBERON:0002051	epithelium of bronchiole	biolink:AnatomicalEntity	mondo			epithelial tissue of lobular bronchiole|epithelium of lobular bronchiole|bronchiole epithelial tissue|lobular bronchiole epithelium|epithelial tissue of bronchiole|lobular bronchiole epithelial tissue|bronchiolar epithelium|bronchiole epithelium	http://purl.obolibrary.org/obo/UBERON_0002051	An epithelium that is part of a bronchiole [Automatically generated definition].	
MONDO:0017407	deficiency in anterior pituitary function - variable immunodeficiency syndrome	biolink:Disease	mondo	Orphanet:293978	ordo_disease	David syndrome	http://purl.obolibrary.org/obo/MONDO_0017407		ORPHA:293978
MONDO:0017408	rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome	biolink:Disease	mondo	Orphanet:293987|GARD:0010407|UMLS:C4053506|UMLS:CN203158|NCIT:C121944	ordo_disease	rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome|ROHHAD|ROHHADNET|rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome|ROHHAD syndrome|rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation|rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation	http://purl.obolibrary.org/obo/MONDO_0017408	A very rare disorder that appears after the first year and a half of life in previously healthy children. It is characterized by rapid-onset weight gain, hypothalamic dysfunction, breathing abnormalities, and autonomic system dysregulation. The hypothalamic dysfunction manifestations include inability to maintain normal water balance, high prolactin levels, low thyroid, low cortisol, and early or late puberty. The breathing abnormalities include sleep apnea and alveolar hypoventilation, requiring ventilation support. The autonomic system dysregulation includes eye abnormalities, intestinal abnormalities, temperature dysregulation, and low heart rhythm. This disorder requires early recognition because it may lead to cardiorespiratory arrest. Up to 40% of the patients develop tumors of neural crest origin.	UMLS:C4053506|ORPHA:293987|UMLS:CN203158|NCIT:C121944
MONDO:0017409	fetal cytomegalovirus syndrome	biolink:Disease	mondo	GARD:0001409|GARD:0001480|ICD10:P35.1|SCTID:276701009|Orphanet:294|UMLS:C0349499|NCIT:C122427	gard_rare|ordo_disease	antenatal CMV infection|antenatal cytomegalovirus infection|congenital Cytomegaloviral infection|CMV antenatal infection|mother-to-child transmission of cytomegalovirus syndrome|congenital cytomegalovirus	http://purl.obolibrary.org/obo/MONDO_0017409	An infection with the Cytomegalovirus that is present from birth.	SNOMEDCT:276701009|NCIT:C122427|ORPHA:294|UMLS:C0349499
MONDO:0017402	familial isolated arrhythmogenic ventricular dysplasia, biventricular form	biolink:Disease	mondo	UMLS:CN203146|ICD10:I42.8|Orphanet:293899	ordo_clinical_subtype	familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form	http://purl.obolibrary.org/obo/MONDO_0017402		ORPHA:293899|UMLS:CN203146
MONDO:0017403	familial isolated arrhythmogenic ventricular dysplasia, right dominant form	biolink:Disease	mondo	UMLS:CN203147|Orphanet:293910|ICD10:I42.8	ordo_clinical_subtype	familial isolated arrhythmogenic ventricular dysplasia, classic form|familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form|familial isolated arrhythmogenic ventricular cardiomyopathy, classic form	http://purl.obolibrary.org/obo/MONDO_0017403		UMLS:CN203147|ORPHA:293910
GO:0140110	transcription regulator activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0140110	A molecular function that controls the rate, timing and/or magnitude of gene transcription. The function of transcriptional regulators is to modulate gene expression at the transcription step so that they are expressed in the right cell at the right time and in the right amount throughout the life of the cell and the organism. Genes are transcriptional units, and include bacterial operons.	
MONDO:0017404	distal Xq28 microduplication syndrome	biolink:Disease	mondo	UMLS:CN203151|Orphanet:293939|ICD10:Q99.8	ordo_malformation_syndrome	distal trisomy Xq28|distal dup(X)q(28)	http://purl.obolibrary.org/obo/MONDO_0017404	Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism.	ORPHA:293939|UMLS:CN203151
UBERON:0002050	embryonic structure	biolink:AnatomicalEntity	mondo			embryonic anatomical structure|embryonale Struktur|developing structure|developing embryonic structure|embryonic structures	http://purl.obolibrary.org/obo/UBERON_0002050	Anatomical structure that is part of an embryo.	
GO:0140112	extracellular vesicle biogenesis	biolink:OntologyClass	mondo			extracellular vesicle assembly	http://purl.obolibrary.org/obo/GO_0140112	The assembly and secretion a set of components to form an extracellular vesicule, a membrane-bounded vesicle that is released into the extracellular region. Extracellular vesicles include exosomes, microvesicles and apoptotic bodies, based on the mechanism by which they are released from cells and differentiated based on their size and content.	
MONDO:0017405	1p21.3 microdeletion syndrome	biolink:Disease	mondo	ICD10:Q93.5|UMLS:C4304578|Orphanet:293948|SCTID:719600006|UMLS:CN203152	ordo_malformation_syndrome	monosomy 1p21.3|Del(1)p(21.3)	http://purl.obolibrary.org/obo/MONDO_0017405	1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder.	ORPHA:293948|UMLS:CN203152|SNOMEDCT:719600006|UMLS:C4304578
UBERON:0002059	submandibular ganglion	biolink:AnatomicalEntity	mondo			lingual ganglion|maxillary ganglion|submaxillary ganglion|ganglion submandibulare|Blandin`s ganglion|mandibular ganglion	http://purl.obolibrary.org/obo/UBERON_0002059	the ganglion associated with the lingual nerve that provides postsynaptic fibers to the submandibular and sublingual glands	
HGNC:15597	HPS3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15597		
MONDO:0017400	hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome	biolink:Disease	mondo	ICD10:Q45.8|UMLS:C2748662|Orphanet:293864	ordo_malformation_syndrome	hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome	http://purl.obolibrary.org/obo/MONDO_0017400	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated.	UMLS:C2748662|ORPHA:293864
HGNC:15598	HAMP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15598		
MONDO:0017401	familial isolated arrhythmogenic ventricular dysplasia, left dominant form	biolink:Disease	mondo	UMLS:CN203145|ICD10:I42.8|Orphanet:293888	ordo_clinical_subtype	familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form	http://purl.obolibrary.org/obo/MONDO_0017401		ORPHA:293888|UMLS:CN203145
UBERON:0002056	inferior suprarenal artery	biolink:AnatomicalEntity	mondo			arteria suprarenalis inferior	http://purl.obolibrary.org/obo/UBERON_0002056	Each renal artery gives off some small inferior suprarenal branches to the suprarenal gland, the ureter, and the surrounding cellular tissue and muscles. [WP,unvetted].	
UBERON:0002057	phrenic artery	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0002057	An artery that supplies the diaphragm	
MONDO:0017470	congenital knee dislocation (disease)	biolink:Disease	mondo	MedDRA:10010520|ICD10:Q68.2|Orphanet:295034|ICD9:754.41|SCTID:59068006|HP:0005191	ordo_morphological_anomaly	congenital knee dislocation	http://purl.obolibrary.org/obo/MONDO_0017470		SNOMEDCT:59068006|MEDDRA:10010520|ORPHA:295034|UMLS:C0265669
MONDO:0005489	dyslexia (disease)	biolink:Disease	mondo	DOID:4428|NCIT:C96410|ICD10:F81.0|COHD:442335|EFO:0005424|HP:0010522		dyslexia	http://purl.obolibrary.org/obo/MONDO_0005489	A learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension.	NCIT:C96410|DOID:4428
MONDO:0005486	tooth agenesis	biolink:Disease	mondo	EFO:0005410|Orphanet:99798|DOID:0050591|SCTID:64969001|ICD10:K00.0|OMIMPS:106600|UMLS:CN169366|ICD9:520.0	ordo_morphological_anomaly	selective tooth agenesis|familial tooth agenesis|tooth agenesis, selective|oligodontia|hypodontia	http://purl.obolibrary.org/obo/MONDO_0005486	Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth.	UMLS:CN169366|ORPHA:99798|DOID:0050591|SNOMEDCT:64969001
MONDO:0005485	psychotic disorder	biolink:Disease	mondo	ICD9:298.8|HP:0000709|SCTID:69322001|EFO:0005407|DOID:2468|ICD9:298.9|NCIT:C78576		psychosis|mental or behavioural disorder	http://purl.obolibrary.org/obo/MONDO_0005485	An abnormal condition of the mind that involves a loss of contact with reality. People experiencing psychosis may exhibit personality changes and thought disorder. Depending on its severity, this may be accompanied by unusual or bizarre behavior, as well as difficulty with social interaction and impairment in carrying out daily life activities.	DOID:2468|NCIT:C78576|SNOMEDCT:69322001
MONDO:0005488	adolescent idiopathic scoliosis	biolink:Disease	mondo	SCTID:203646004|EFO:0005423			http://purl.obolibrary.org/obo/MONDO_0005488	A scoliosis with no known cause arising in adolescent.	SNOMEDCT:203646004
MONDO:0005487	schizoaffective disorder	biolink:Disease	mondo	ICD10:F25.9|NCIT:C94378|DOID:5418|ICD9:295.7|ICD10:F25|COHD:4286201|EFO:0005411			http://purl.obolibrary.org/obo/MONDO_0005487	A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms.	NCIT:C94378|DOID:5418
MONDO:0005482	molar-incisor hypomineralization	biolink:Disease	mondo	ICD9:520.5|SCTID:698053001|EFO:0005321			http://purl.obolibrary.org/obo/MONDO_0005482	A hypomineralisation of systemic origin of one to four permanent first molars frequently associated with affected incisors	SNOMEDCT:698053001
MONDO:0005481	contact dermatitis due to nickel	biolink:Disease	mondo	SCTID:93419003|UMLS:C0684345|EFO:0005320			http://purl.obolibrary.org/obo/MONDO_0005481	A form of allergic contact dermatitis that results from exposure to nickel	SNOMEDCT:93419003|UMLS:C0684345
MONDO:0005484	colorectal adenoma	biolink:Disease	mondo	NCIT:C5673|DOID:0050914|DOID:0050860|EFO:0005406|SCTID:399432003|UMLS:C1302401		adenoma of the large bowel|adenoma of large bowel|large intestine adenoma|colorectum adenoma|colorectal adenoma|adenoma of the large intestine|adenoma of large intestine|large bowel adenoma	http://purl.obolibrary.org/obo/MONDO_0005484	An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis.	NCIT:C5673|SNOMEDCT:399432003|UMLS:C1302401|DOID:0050914|DOID:0050860
MONDO:0005483	chemotherapy-induced alopecia	biolink:Disease	mondo	EFO:0005400			http://purl.obolibrary.org/obo/MONDO_0005483	Hair loss as a result of chemotherapy treatment.	
MONDO:0005480	contact dermatitis	biolink:Disease	mondo	DOID:2773|ICD10:L25.9|ICD9:692.89|UMLS:C0011616|EFO:0005319|COHD:134438|SCTID:40275004|NCIT:C26743|ICD10:L25|MESH:D003877|ICD9:692.9		dermatitis venenata|dermatitis, venenata NOS|contact dermatitis NOS|contact dermatitis/eczema|contact eczema|contact dermatitis|dermatitis, venenata	http://purl.obolibrary.org/obo/MONDO_0005480	An inflammatory skin condition caused by direct contact between the skin and either an irritating substance or an allergen.	NCIT:C26743|MESH:D003877|UMLS:C0011616|DOID:2773|SNOMEDCT:40275004
MONDO:0017479	amelia of upper limb, bilateral	biolink:Disease	mondo	ICD10:Q71.0|Orphanet:295055	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017479		ORPHA:295055
MONDO:0017475	macrodactyly of toes	biolink:Disease	mondo	GARD:0006951|MESH:C537719|ICD10:Q74.2|Orphanet:295047|HP:0100747	ordo_morphological_anomaly	Megalodactyly of the foot|megalodactylism of the foot|macrodactyly of the foot|macrodactyly of foot	http://purl.obolibrary.org/obo/MONDO_0017475		MESH:C537719|ORPHA:295047
HP:0006530	Abnormal pulmonary Interstitial morphology	biolink:PhenotypicFeature	mondo	UMLS:C0206062|SNOMEDCT_US:233703007|MSH:D017563		Interstitial lung disease|Interstitial pulmonary disease|Abnormal lung parenchyma morphology|Abnormality in area between air sacs in lung	http://purl.obolibrary.org/obo/HP_0006530	Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis.	
SO:1000183	chromosome_structure_variation	biolink:SequenceFeature	mondo			snpEff:CHROMOSOME_LARGE_DELETION|chromosome structure variation	http://purl.obolibrary.org/obo/SO_1000183	An alteration of the genome that leads to a change in the structure or number of one or more chromosomes.	
MONDO:0017476	upper limb hypertrophy	biolink:Disease	mondo	Orphanet:295049|ICD10:Q74.0	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0017476		UMLS:C0575518|ORPHA:295049
MONDO:0017477	lower limb hypertrophy	biolink:Disease	mondo	Orphanet:295051|ICD10:Q74.2	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0017477	Lower limb hypertrophy is a rare, genetic, non-syndromic developmental defect during embryogenesis characterized by uni- or bilateral overgrowth of lower limbs involving bones and/or soft tissues and resulting in an abnormal increase in leg length and/or width. Hypertrophy presents either as a proportionate overgrowth of entire limb or involves only the proximal or distal parts of it. Phenotype ranges from mild hypertrophy without functional disability to massively hypertrophied limb with knee flexion and ankle equinus contractures and macrodystrophia lipomatosa. Patients may also present vascular abnormalities (e.g. cutaneous angiomas, varicose veins) and myalgia.	ORPHA:295051
UBERON_CORE:sexually_homologous_to	sexually_homologous_to	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/uberon/core#sexually_homologous_to		
MONDO:0017478	amelia of upper limb, unilateral	biolink:Disease	mondo	ICD10:Q71.0|Orphanet:295053	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017478		ORPHA:295053
MONDO:0017471	congenital patella dislocation	biolink:Disease	mondo	ICD10:Q74.1|SCTID:205067002|GARD:0009692|Orphanet:295036|MESH:C538081	gard_rare|ordo_morphological_anomaly	congenital patellar dislocation|congenital dislocation of the patella	http://purl.obolibrary.org/obo/MONDO_0017471		MESH:C538081|UMLS:C0345360|ORPHA:295036|SNOMEDCT:205067002
MONDO:0017472	patella aplasia/hypoplasia, unilateral	biolink:Disease	mondo	Orphanet:295038|ICD10:Q74.1	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017472		ORPHA:295038
MONDO:0017473	patella aplasia/hypoplasia, bilateral	biolink:Disease	mondo	ICD10:Q74.1|Orphanet:295041	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017473		ORPHA:295041
HGNC:15561	IL36RN	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15561		
MONDO:0017474	macrodactyly of fingers	biolink:Disease	mondo	SCTID:297195000|ICD10:Q74.0|HP:0100746|Orphanet:295044|GARD:0008529|MESH:C537720	ordo_morphological_anomaly	macrodactyly of the hand|Megalodactyly of the hand|macrodactyly of hand|megalodactylism of the hand	http://purl.obolibrary.org/obo/MONDO_0017474		MESH:C537720|ORPHA:295044|SNOMEDCT:297195000
MONDO:0005497	bone development disease	biolink:Disease	mondo	DOID:0080006|SCTID:371521007|EFO:0005541		bone development disease or disorder|disorder of bone development|disease of bone development|disorder of bone development|disease or disorder of bone development|bone development disease	http://purl.obolibrary.org/obo/MONDO_0005497	A disease involving the bone development.	SNOMEDCT:371521007|DOID:0080006
MONDO:0005496	bile duct carcinoma	biolink:Disease	mondo	EFO:0005540|NCIT:C27814|UMLS:C0740277|DOID:4897		bile duct cancer|carcinoma of bile duct|bile duct carcinoma|bile duct cancer (including cholangiocarcinoma)	http://purl.obolibrary.org/obo/MONDO_0005496	A carcinoma that arises from epithelial cells of the bile duct	NCIT:C27814|UMLS:C0740277|DOID:4897
MONDO:0005499	brain glioma	biolink:Disease	mondo	UMLS:C0349661|SCTID:254937005|DOID:0060108|EFO:0005543		brain malignant glioma|malignant glioma of brain	http://purl.obolibrary.org/obo/MONDO_0005499	A malignant glioma that involves the brain.	UMLS:C0349661|SNOMEDCT:254937005|DOID:0060108
MONDO:0005498	botulism	biolink:Disease	mondo	MedDRA:10006041|SCTID:398565003|GARD:0000943|MESH:D001906|UMLS:C0006057|DOID:11976|CSP:5000-0060|NCIT:C84599|Orphanet:1267|ICD10:A05.1|EFO:0005542	ordo_disease|gard_rare	foodborne botulism|infant botulism (subtype)|food poisoning due to Clostridium botulinum|infection due to Clostridium botulinum|botulism|wound botulism (subtype)|foodborne botulism (subtype)|intoxication with Clostridium botulinum toxin|botulism poisoning	http://purl.obolibrary.org/obo/MONDO_0005498	A serious bacterial infection caused by botulinum toxin which is produced by Clostridium botulinum. Patients are infected usually by ingestion of contaminated food or wound contamination. It leads to muscle paralysis which may result in respiratory failure.	NCIT:C84599|DOID:11976|SNOMEDCT:398565003|MEDDRA:10006041|ORPHA:1267|MESH:D001906|UMLS:C0006057
MONDO:0005493	delayed encephalopathy after acute carbon monoxide poisoning	biolink:Disease	mondo	EFO:0005534			http://purl.obolibrary.org/obo/MONDO_0005493	Anoxic encephalopathy resulting from acute CO intoxication, developing within 2-6 weeks of the poisoning event	
MONDO:0005492	urticaria (disease)	biolink:Disease	mondo	ICD9:708.8|SCTID:126485001|NCIT:C3432|UMLS:C0042109|ICD9:708|DOID:1555|ICD10:L50|ICD9:708.9|MESH:D014581|COHD:139900|EFO:0005531|HP:0001025		hives|Urticarias|urticaria	http://purl.obolibrary.org/obo/MONDO_0005492	A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress.	SNOMEDCT:126485001|NCIT:C3432|MESH:D014581|UMLS:C0042109|DOID:1555
MONDO:0005495	adrenal gland disease	biolink:Disease	mondo	MESH:D000307|ICD10:E27.9|NCIT:C26690|EFO:0005539|SCTID:30171000|DOID:9553|COHD:193165|ICD9:255|ICD9:255.8|ICD9:255.9		disorder of adrenal gland|adrenal gland diseases|disease or disorder of adrenal gland|disease of adrenal gland|adrenal gland disorder|adrenal gland disease or disorder|adrenal gland disorders|adrenal gland disease|disorder of adrenal gland	http://purl.obolibrary.org/obo/MONDO_0005495	A disease involving the adrenal gland.	DOID:9553|NCIT:C26690|MESH:D000307|SNOMEDCT:30171000
MONDO:0005494	triple-negative breast carcinoma	biolink:Disease	mondo	DOID:0060081|SCTID:706970001|EFO:0005537|UMLS:C3539878|MESH:D064726|NCIT:C71732		triple-negative breast carcinoma|triple-negative breast cancer|triple-receptor negative breast cancer	http://purl.obolibrary.org/obo/MONDO_0005494	An invasive breast carcinoma which is negative for expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2).	NCIT:C71732|SNOMEDCT:706970001|UMLS:C3539878|DOID:0060081|MESH:D064726
MONDO:0005491	Chagas cardiomyopathy	biolink:Disease	mondo	EFO:0005529|SCTID:998008|ICD9:086.0|MESH:D002598		Trypanosoma cruzi cardiomyopathy|Trypanosoma cruzi caused cardiomyopathy	http://purl.obolibrary.org/obo/MONDO_0005491	A disease of the cardiac muscle developed subsequent to the initial protozoan infection by trypanosoma cruzi. After infection, less than 10% develop acute illness such as myocarditis (mostly in children). The disease then enters a latent phase without clinical symptoms until about 20 years later. Myocardial symptoms of advanced chagas disease include conduction defects (heart block) and cardiomegaly.	MESH:D002598|SNOMEDCT:998008
MONDO:0005490	large artery stroke	biolink:Disease	mondo	EFO:0005524			http://purl.obolibrary.org/obo/MONDO_0005490	Stroke caused by the blockage of blood flow in one of the large arteries feeding the brain.	
MONDO:0017468	congenital shoulder dislocation	biolink:Disease	mondo	Orphanet:295030|ICD10:Q68.8|SCTID:23876003|ICD9:755.59	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0017468		SNOMEDCT:23876003|UMLS:C0265562|ORPHA:295030
MONDO:0017469	congenital elbow dislocation	biolink:Disease	mondo	Orphanet:295032|ICD10:Q68.8	ordo_morphological_anomaly	isolated congenital elbow dislocation|isolated congenital radial head dislocation|congenital radial head dislocation	http://purl.obolibrary.org/obo/MONDO_0017469		ORPHA:295032|UMLS:C0265561
HGNC:15574	RB1CC1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15574		
MONDO:0017464	congenital pseudoarthrosis of the fibula	biolink:Disease	mondo	ICD10:Q74.2|Orphanet:295022	ordo_clinical_subtype	congenital pseudarthrosis of the fibula	http://purl.obolibrary.org/obo/MONDO_0017464		ORPHA:295022
ECTO:0000163	organic cyclic compound exposure	biolink:OntologyClass	mondo			exposure to organic cyclic compound	http://purl.obolibrary.org/obo/ECTO_0000163	An exposure to organic cyclic compound.	
MONDO:0017465	congenital pseudoarthrosis of the radius	biolink:Disease	mondo	ICD10:Q74.0|Orphanet:295024	ordo_clinical_subtype	congenital pseudarthrosis of the radius	http://purl.obolibrary.org/obo/MONDO_0017465		ORPHA:295024
MONDO:0017466	congenital pseudoarthrosis of the ulna	biolink:Disease	mondo	Orphanet:295026|ICD10:Q74.0	ordo_clinical_subtype	congenital pseudarthrosis of the ulna	http://purl.obolibrary.org/obo/MONDO_0017466		ORPHA:295026
MONDO:0017467	tibio-fibular synostosis	biolink:Disease	mondo	SCTID:737581000|Orphanet:295028|ICD10:Q74.2	ordo_morphological_anomaly	Tibio-fibular fusion	http://purl.obolibrary.org/obo/MONDO_0017467	Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee.	SNOMEDCT:737581000|ORPHA:295028
MONDO:0017460	syndactyly type 6	biolink:Disease	mondo	SCTID:763624007|UMLS:CN203203|Orphanet:295012|ICD10:Q70.1	ordo_morphological_anomaly	mitten hand|unilateral syndactyly of digits 2-5|syndactyly, mitten type	http://purl.obolibrary.org/obo/MONDO_0017460	Syndactyly type 6 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral fusion of second to fifth fingers, amalgamation of distal phalanges in a knot-like structure, and second- and third-toe fusion. Some individuals present only with webbing between second and third toes, without involvement of fingers.	UMLS:CN203203|ORPHA:295012|SNOMEDCT:763624007
MONDO:0017461	familial isolated clinodactyly of fingers	biolink:Disease	mondo	ICD10:Q68.1|Orphanet:295014|SCTID:763691008	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0017461	Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging.	SNOMEDCT:763691008|ORPHA:295014
MONDO:0017462	congenital pseudoarthrosis of the tibia	biolink:Disease	mondo	NCIT:C132080|UMLS:C0265661|Orphanet:295018|SCTID:55379003|ICD10:Q74.2	ordo_clinical_subtype	congenital pseudarthrosis of tibia|congenital pseudarthrosis of the tibia	http://purl.obolibrary.org/obo/MONDO_0017462	A condition characterized by non-union of the tibia, which is present at birth. It is usually associated with neurofibromatosis type 1.	NCIT:C132080|SNOMEDCT:55379003|ORPHA:295018|UMLS:C0265661
MONDO:0017463	congenital pseudoarthrosis of the femur	biolink:Disease	mondo	ICD10:Q74.2|Orphanet:295020	ordo_clinical_subtype	congenital pseudarthrosis of the femur	http://purl.obolibrary.org/obo/MONDO_0017463		ORPHA:295020
HGNC:15573	SETBP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15573		
MONDO:0005468	hypotensive disorder	biolink:Disease	mondo	ICD9:458.8|HP:0002615|SCTID:45007003|EFO:0005251|ICD9:458.9|MESH:D007022|ICD9:458		hypotension (disease)|hypotension	http://purl.obolibrary.org/obo/MONDO_0005468	Blood pressure that is abnormally low.	MESH:D007022|NCIT:C3128|SNOMEDCT:45007003
MONDO:0005467	occupation-related stress disorder	biolink:Disease	mondo	Wikipedia:Occupational_stress|EFO:0005250|SCTID:10586006			http://purl.obolibrary.org/obo/MONDO_0005467	The response people may have when presented with work demands and pressures that are not matched to their knowledge and abilities and which challenge their ability to cope.	SNOMEDCT:10586006
MONDO:0005469	orthostatic hypotension (disease)	biolink:Disease	mondo	SCTID:28651003|HP:0001278|EFO:0005252|ICD9:458.0		orthostatic hypotension	http://purl.obolibrary.org/obo/MONDO_0005469	Sudden fall of the blood pressure of at least 20/10 mm Hg when a person stands up.	NCIT:C84970|SNOMEDCT:28651003
MONDO:0005464	rhegmatogenous retinal detachment	biolink:Disease	mondo	NCIT:C118755|UMLS:C0271055|EFO:0005240|SCTID:19620000			http://purl.obolibrary.org/obo/MONDO_0005464	Retinal detachment secondary to retinal tear or break.	UMLS:C0271055|SNOMEDCT:19620000|NCIT:C118755
MONDO:0005463	aortic valve calcification (disease)	biolink:Disease	mondo	SCTID:250978003|UMLS:C0428791|EFO:0005239|HP:0004380		aortic valve calcification	http://purl.obolibrary.org/obo/MONDO_0005463	Calcification of the aortic valve	UMLS:C0428791|SNOMEDCT:250978003
MONDO:0005466	hypersomnia (disease)	biolink:Disease	mondo	UMLS:C0917799|SCTID:77692006|EFO:0005246|HP:0100786|ICD9:780.54|NCIT:C78346		hypersomnia	http://purl.obolibrary.org/obo/MONDO_0005466	A sleep disorder characterized by excessive sleepiness.	UMLS:C0917799|SNOMEDCT:77692006|NCIT:C78346
MONDO:0005465	methamphetamine-induced psychosis	biolink:Disease	mondo	EFO:0005242			http://purl.obolibrary.org/obo/MONDO_0005465	Abnormal mental state resulting from an abuse of methamphetamine	
MONDO:0005460	swine influenza	biolink:Disease	mondo	NCIT:C80444|SCTID:442696006|DOID:0050211|EFO:0005226		Swine influenza virus influenza|H1N1 Virus infection|H1N1 flu|swine flu|Influenza A (H1N1)|Influenza A (H1N1) Virus infection|H1N1 Influenza|Swine influenza virus caused influenza	http://purl.obolibrary.org/obo/MONDO_0005460	An acute viral respiratory infection caused by a strain of influenza virus which is endemic in swine (pigs). Rarely reported in humans prior to 2009, the disease is caused by a mutated strain of swine influenza A (H1N1) virus. It is highly contagious and spreads mainly through coughing and sneezing. Signs and symptoms include fever, chills, coughing, sore throat headache, muscle ache, and generalized weakness. Antiviral medications are most effective in the first two days of the illness.	SNOMEDCT:442696006|DOID:0050211|NCIT:C80444
MONDO:0005462	primitive neuroectodermal tumor	biolink:Disease	mondo	EFO:0005235|ICDO:9503/3|ONCOTREE:PNET|MESH:D017599|NCIT:C3716|DOID:171|ICDO:9473/3		neuroectodermal neoplasm|neuroectodermal tumor|PNET|primitive neuroectodermal neoplasm|neuroepithelioma|primitive neuroectodermal tumor (PNET)|primitive neuroectodermal tumor	http://purl.obolibrary.org/obo/MONDO_0005462	A malignant neoplasm that originates in the neuroectoderm. The neuroectoderm constitutes the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems and includes some glial cell precursors.	MESH:D017599|NCIT:C3716|DOID:171
MONDO:0005461	endometrium adenocarcinoma	biolink:Disease	mondo	DOID:2870|UMLS:C1153706|EFO:0005232|NCIT:C7359|UMLS:C0279763		endometrial endometrioid adenocarcinoma with squamous differentiation|adenocarcinoma of endometrium|endometrial adenocarcinoma|endometrioid adenomas and carcinomas|adenocarcinoma, endometrial, malignant|endometrium adenocarcinoma|adenocarcinoma of the endometrium|endometrioid adenoma or carcinoma NOS (morphologic abnormality)|endometrial endometrioid adenocarcinoma|endometrial adenoacanthoma|endometrioid adenoma or carcinoma|endometrioid adenomas and carcinomas (morphologic abnormality)|adenocarcinoma of uterus|endometrioid carcinoma of endometrium	http://purl.obolibrary.org/obo/MONDO_0005461	An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma.	DOID:2870|UMLS:C1153706|UMLS:C0279763|NCIT:C7359
HP:0006517	Intraalveolar phospholipid accumulation	biolink:PhenotypicFeature	mondo	MSH:D011649|SNOMEDCT_US:10501004|UMLS:C0034050		Alveolar proteinosis|Pulmonary alveolar proteinosis|Detection of PAS-positive extracellular material in broncho-alveolar lavage	http://purl.obolibrary.org/obo/HP_0006517	Accumulation of amorphous PAS-positive material in the space betweem alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis.	
MONDO:0017457	Preaxial polydactyly of toes	biolink:Disease	mondo	GARD:0012771|SCTID:205132000|Orphanet:295006|ICD10:Q69.2	ordo_morphological_anomaly	bifid great toes|bifid hallux|preaxial polydactyly of foot|bifid halluces	http://purl.obolibrary.org/obo/MONDO_0017457		ORPHA:295006|UMLS:C0432036|SNOMEDCT:205132000
MONDO:0017458	obsolete postaxial polydactyly of toes	biolink:Disease	mondo	GARD:0012770|SCTID:205133005|Orphanet:295008|ICD10:Q69.2		postaxial polydactyly of foot	http://purl.obolibrary.org/obo/MONDO_0017458		ORPHA:295008|SNOMEDCT:205133005|UMLS:C0432037
MONDO:0017459	obsolete central polydactyly of toes	biolink:Disease	mondo	Orphanet:295010|SCTID:253967005|ICD10:Q69.2		mirror foot|central polydactyly of foot|mesoaxial polydactyly of toes	http://purl.obolibrary.org/obo/MONDO_0017459		ORPHA:295010|SNOMEDCT:253967005
MONDO:0017453	fetal parvovirus syndrome	biolink:Disease	mondo	GARD:0004236|GARD:0002310|MESH:C536301|ICD10:P35.8|Orphanet:295|SCTID:715197005	gard_rare|ordo_malformation_syndrome	fifth disease|mother-to-child transmission of parvovirus syndrome|Maternofetal infection by parvovirus|Parvovirus antenatal infection|Human parvovirus B19 caused infectious embryofetopathy|Parvovirus B19 antenatal infection|Human parvovirus B19 infectious embryofetopathy	http://purl.obolibrary.org/obo/MONDO_0017453	Foetal parvovirus syndrome is a foetopathy likely to occur when a pregnant woman is infected by parvovirus B19. In adults, the virus causes a butterfly erythema infectiosum (also called Fifth Disease; 'slapped cheek disease') and flu-like symptoms with symmetric polyarthralgias, which usually do not warrant prenatal diagnosis.	SNOMEDCT:715197005|ORPHA:295|MESH:C536301
MONDO:0017454	triphalangeal thumb-polysyndactyly syndrome	biolink:Disease	mondo	ICD10:Q74.8|UMLS:CN203197|Orphanet:2950	ordo_malformation_syndrome	TPT-PS syndrome	http://purl.obolibrary.org/obo/MONDO_0017454	Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly.	UMLS:C1969369|UMLS:CN203197|ORPHA:2950|MESH:C536563
MONDO:0017455	hyperphalangy	biolink:Disease	mondo	ICD10:Q74.8|Orphanet:295002|SCTID:763535005	ordo_morphological_anomaly	supernumerary phalanx|supernumerary phalanges	http://purl.obolibrary.org/obo/MONDO_0017455	Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies.	SNOMEDCT:763535005|ORPHA:295002
MONDO:0017456	central polydactyly of fingers	biolink:Disease	mondo	GARD:0012769|ICD10:Q69.0|Orphanet:295004|SCTID:205130008	ordo_morphological_anomaly	mesoaxial polydactyly|mirror hand|mesoaxial polydactyly of fingers|central polydactyly|central polydactyly of hand	http://purl.obolibrary.org/obo/MONDO_0017456		SNOMEDCT:205130008|UMLS:C0431903|ORPHA:295004
ECTO:0000135	organic molecular entity exposure	biolink:OntologyClass	mondo			exposure to organic molecular entity	http://purl.obolibrary.org/obo/ECTO_0000135	An exposure to organic molecular entity.	
MONDO:0017450	split foot (disease)	biolink:Disease	mondo	ICD10:Q72.7|SCTID:205358006|HP:0001839|Orphanet:294994	ordo_morphological_anomaly	split foot	http://purl.obolibrary.org/obo/MONDO_0017450		ORPHA:294994|SNOMEDCT:205358006|UMLS:C0432028
MONDO:0017451	non-syndromic brachydactyly of fingers	biolink:Disease	mondo	Orphanet:294996|ICD10:Q71.8	ordo_morphological_anomaly	non-syndromic brachydactyly of manus|short fingers|manus non-syndromic brachydactyly	http://purl.obolibrary.org/obo/MONDO_0017451	A non-syndromic brachydactyly that involves the manus.	ORPHA:294996
MONDO:0017452	non-syndromic brachydactyly of toes	biolink:Disease	mondo	ICD9:755.66|Orphanet:294998|SCTID:205346006|ICD10:Q72.8	ordo_morphological_anomaly	non-syndromic brachydactyly of pes|short toes|pes non-syndromic brachydactyly	http://purl.obolibrary.org/obo/MONDO_0017452	A non-syndromic brachydactyly that involves the pes.	ORPHA:294998|SNOMEDCT:205346006|UMLS:C0432029
MONDO:0005479	atrial tachycardia	biolink:Disease	mondo	ICD9:427.89|SCTID:276796006|NCIT:C35481|EFO:0005308			http://purl.obolibrary.org/obo/MONDO_0005479	A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology. (CDISC)	SNOMEDCT:276796006|NCIT:C35481
MONDO:0005478	torsades de pointes	biolink:Disease	mondo	UMLS:C0040479|SCTID:31722008|EFO:0005307|HP:0001664|MESH:D016171			http://purl.obolibrary.org/obo/MONDO_0005478	A malignant form of polymorphic ventricular tachycardia that is characterized by heart rate between 200 and 250 beats per minute, and qrs complexes with changing amplitude and twisting of the points. The term also describes the syndrome of tachycardia with prolonged ventricular repolarization, long qt intervals exceeding 500 milliseconds or bradycardia. Torsades de pointes may be self-limited or may progress to ventricular fibrillation.	UMLS:C0040479|MESH:D016171|SNOMEDCT:31722008
MONDO:0005475	migraine with aura	biolink:Disease	mondo	SCTID:4473006|MESH:D020325|ICD10:G43.1|COHD:381549|UMLS:C0154723|EFO:0005295|DOID:10024|NCIT:C117005|ICD10:G43.109|ICD9:346.00|HP:0002077|ICD9:346.0		classic migraine	http://purl.obolibrary.org/obo/MONDO_0005475	A migraine disorder characterized by episodes that are preceded by focal neurological symptoms.	DOID:10024|UMLS:C0154723|MESH:D020325|SNOMEDCT:4473006|NCIT:C117005
MONDO:0005474	obsolete non-small cell lung adenocarcinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005474		
MONDO:0005477	ventricular tachycardia	biolink:Disease	mondo	SCTID:25569003|ICD10:I47.2|NCIT:C50802|COHD:4103295|UMLS:C0042514|MESH:D017180|EFO:0005306			http://purl.obolibrary.org/obo/MONDO_0005477	A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC)	NCIT:C50802|MESH:D017180|SNOMEDCT:25569003|UMLS:C0042514
UBERON:0002090	postcranial axial skeleton	biolink:AnatomicalEntity	mondo			axial skeleton|post-cranial axial skeleton	http://purl.obolibrary.org/obo/UBERON_0002090	The postcranial subdivision of skeleton structural components forming the long axis of the vertebrate body; in Danio, consisting of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins; in human consists of the bones of the vertebral column, the thoracic cage and the pelvis[ZFA+FMA].	
MONDO:0005476	atrioventricular node disease	biolink:Disease	mondo	EFO:0005305		disorder of atrioventricular node|disorder of atrioventricular node|atrioventricular node disease|disease or disorder of atrioventricular node|disease of atrioventricular node|atrioventricular node disease or disorder	http://purl.obolibrary.org/obo/MONDO_0005476	A disease involving the atrioventricular node.	
MONDO:0005471	neurally mediated hypotension	biolink:Disease	mondo	EFO:0005254			http://purl.obolibrary.org/obo/MONDO_0005471	Neurally mediated hypotension is a sudden drop in blood pressure while an individual stands up. It occurs when there is an abnormal reflex interaction between the heart and the brain, both of which usually are structurally normal	
MONDO:0005470	postprandial hypotension	biolink:Disease	mondo	EFO:0005253			http://purl.obolibrary.org/obo/MONDO_0005470	Drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous sytem for the diversion of blood to the intestines.	
MONDO:0005473	temporomandibular joint disorder	biolink:Disease	mondo	SCTID:41888000|MESH:D013705|COHD:74396|ICD9:524.60|NCIT:C63709|ICD9:524.69|EFO:0005279		TMD	http://purl.obolibrary.org/obo/MONDO_0005473	Any condition affecting the anatomic and functional characteristics of the temporomandibular joint.	SNOMEDCT:41888000|MESH:D013705|NCIT:C63709
MONDO:0005472	obsolete congenital heart malformation	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005472		
UBERON:0002095	mesentery	biolink:AnatomicalEntity	mondo			mesentery (generic)|generic mesentery	http://purl.obolibrary.org/obo/UBERON_0002095	Anatomical organ component composed of a double layer of serous membrane that suspends a viscus from the body wall or connects adjacent viscera and in doing so conveys blood vessels, lymphatics and nerves to and from the viscera. Examples: greater omentum, broad ligament of uterus, sigmoid mesocolon.	
UBERON:0002097	skin of body	biolink:AnatomicalEntity	mondo			integumental organ|pelt|skin|skin organ|integument|entire skin|entire integument	http://purl.obolibrary.org/obo/UBERON_0002097	The organ covering the body that consists of the dermis and epidermis.	
UBERON:0002092	brain dura mater	biolink:AnatomicalEntity	mondo			dura mater encephali|cranial dura mater|dura mater of brain|dura mater cranialis	http://purl.obolibrary.org/obo/UBERON_0002092	The fibrous membrane forming the outer of the three coverings that surrounds the brain within the cranial cavity; consists of two layers including the periosteal layer and the meningeal layer.	
MONDO:0017446	apodia	biolink:Disease	mondo	ICD10:Q72.3|Orphanet:294986|SCTID:371197005	ordo_morphological_anomaly	congenital absence of foot	http://purl.obolibrary.org/obo/MONDO_0017446		ORPHA:294986|SNOMEDCT:371197005
MONDO:0017447	congenital absence/hypoplasia of thumb	biolink:Disease	mondo	Orphanet:294988|ICD10:Q71.3	ordo_morphological_anomaly	thumb hypodactyly|thumb oligodactyly	http://purl.obolibrary.org/obo/MONDO_0017447	Congenital absence/hypoplasia of thumb is a rare developmental defect during embryogenesis characterized by underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. The malformation may occur isolated, combined to other defects of the hand or upper limb, or as part of a multiple congenital anomaly syndrome.	ORPHA:294988
UBERON:0002091	appendicular skeleton	biolink:AnatomicalEntity	mondo			entire appendicular skeleton|appendicular skeleton|skeleton appendiculare|paired fin skeleton	http://purl.obolibrary.org/obo/UBERON_0002091	Subdivision of skeleton which which consists of all the skeletal elements in in the pectoral and pelvic appendage complexes[cjm].	
UBERON:0002094	interventricular septum	biolink:AnatomicalEntity	mondo			ventricle septum|heart ventricular septum|intraventricular septum|septum inferius|septum membranaceum|s. interventriculare cordis|interventriculare cordis|heart interventricular septum|interventricular septum of heart|ventricular septum	http://purl.obolibrary.org/obo/UBERON_0002094	Cardiac septum which separates the right ventricle from the left ventricle.[FMA]	
MONDO:0017448	congenital absence/hypoplasia of fingers excluding thumb	biolink:Disease	mondo	ICD10:Q71.3|Orphanet:294990	ordo_morphological_anomaly	digits 2-5 oligodactyly|digits 2-5 hypodactyly	http://purl.obolibrary.org/obo/MONDO_0017448		ORPHA:294990
MONDO:0017449	split hand (disease)	biolink:Disease	mondo	Orphanet:294992|HP:0001171|ICD10:Q71.6	ordo_morphological_anomaly	split hand|ectrodactyly of hand	http://purl.obolibrary.org/obo/MONDO_0017449	Split hand is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral or unilateral underdevelopment or absence of the central rays of the autopod, with absence of all or just some of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age.	ORPHA:294992
HGNC:15559	CHCHD10	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15559		
UBERON:0002093	spinal dura mater	biolink:AnatomicalEntity	mondo			dura mater of neuraxis of spinal cord|spinal cord dura mater|dura mater of spinal cord|spinal cord dura mater of neuraxis	http://purl.obolibrary.org/obo/UBERON_0002093	A dura mater that is part of a spinal cord [Automatically generated definition].	
MONDO:0017442	congenital absence of thigh and lower leg with foot present	biolink:Disease	mondo	ICD9:755.33|Orphanet:294977|ICD10:Q72.1|SCTID:55852007	ordo_morphological_anomaly	Femorotibiofibular intercalary transverse meromelia	http://purl.obolibrary.org/obo/MONDO_0017442		SNOMEDCT:55852007|ORPHA:294977
MONDO:0017443	congenital absence of both forearm and hand	biolink:Disease	mondo	Orphanet:294979|ICD10:Q71.2	ordo_morphological_anomaly	radio-ulnar terminal transverse meromelia	http://purl.obolibrary.org/obo/MONDO_0017443	Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end.	ORPHA:294979|UMLS:C1306663
MONDO:0017444	congenital absence of both lower leg and foot	biolink:Disease	mondo	SCTID:278532000|ICD10:Q72.2|Orphanet:294981	ordo_morphological_anomaly	tibiofibular terminal transverse meromelia	http://purl.obolibrary.org/obo/MONDO_0017444		ORPHA:294981|SNOMEDCT:278532000
MONDO:0017445	acheiria	biolink:Disease	mondo	Orphanet:294983|SCTID:371199008|ICD10:Q71.3	ordo_morphological_anomaly	congenital absence of hand	http://purl.obolibrary.org/obo/MONDO_0017445		SNOMEDCT:371199008|ORPHA:294983
UBERON:0002099	cardiac septum	biolink:AnatomicalEntity	mondo			heart septum|spiral septa|cardiac septa|heart septa|septum of heart	http://purl.obolibrary.org/obo/UBERON_0002099	The thin membranous structure between the two heart atria or the thick muscular structure between the two heart ventricles.	
MONDO:0017440	humeral agenesis/hypoplasia	biolink:Disease	mondo	ICD10:Q71.8|Orphanet:294973	ordo_morphological_anomaly	humeral intercalary meromelia|congenital absence of humerus|congenital hypoplasia of humerus	http://purl.obolibrary.org/obo/MONDO_0017440	Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist.	ORPHA:294973
MONDO:0017441	congenital absence of upper arm and forearm with hand present	biolink:Disease	mondo	NCIT:C34928|GARD:0012123|ICD10:Q71.1|SCTID:22841008|Orphanet:294975	ordo_morphological_anomaly	phocomelia|humero-radio-ulnar intercalary transverse meromelia	http://purl.obolibrary.org/obo/MONDO_0017441	A congenital malformation in which the upper portion of a limb is either shortened or absent.	NCIT:C34928|ORPHA:294975|SNOMEDCT:22841008
UBERON:0004668	fourth ventricle aperture	biolink:AnatomicalEntity	mondo			aperture of fourth ventricle|aperture of 4th ventricle	http://purl.obolibrary.org/obo/UBERON_0004668	One of: the 4th ventricle median or lateral apertures.	
HGNC:15520	LPAR6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15520		
UBERON:0004666	interventricular septum membranous part	biolink:AnatomicalEntity	mondo			membranous part of interventricular septum|membranous septum|ventricle membranous septum|pars membranacea septi interventricularis|ventricular membranous septum|membranous interventricular septum|pars membranacea (septi interventricularis)|membranous part interventricular septum|membranous interventricular septum|membranous portion of interventricular septum|cardiac ventricular membranous septum	http://purl.obolibrary.org/obo/UBERON_0004666	The membranous portion of the wall between the two lower chambers of the heart	
UBERON:0002007	medulla of lymph node	biolink:AnatomicalEntity	mondo			medulla nodi lymphoidei|lymph node medulla	http://purl.obolibrary.org/obo/UBERON_0002007	The mdeullary portion of the lymph node, which contains large blood vessels, sinuses and medullary cords that contain antibody-secreting plasma cells.	
UBERON:0004667	interventricular septum muscular part	biolink:AnatomicalEntity	mondo			cardiac ventricular muscular septum|muscular interventricular septum|muscular septum|pars muscularis septi interventricularis|pars muscularis (septi interventricularis)|muscular part of interventricular septum|muscular part interventricular septum|ventricular muscular septum|muscular interventricular septum|septum membranaceum	http://purl.obolibrary.org/obo/UBERON_0004667	The muscular portion of the wall between the two lower chambers of the heart	
UBERON:0002006	cortex of lymph node	biolink:AnatomicalEntity	mondo			lymph node cortex|cortex nodi lymphoidei	http://purl.obolibrary.org/obo/UBERON_0002006	Peripheral portion of the lymph node, underneath the capsule[WP].	
UBERON:0004664	aorta tunica adventitia	biolink:AnatomicalEntity	mondo			tunica adventitia of aorta	http://purl.obolibrary.org/obo/UBERON_0004664	the outermost layer of the aorta wall, containing connective tissue and collagen and elastic fibers	
UBERON:0002001	joint of rib	biolink:AnatomicalEntity	mondo			rib joint	http://purl.obolibrary.org/obo/UBERON_0002001	Any joint that connects a rib to another structure (or another rib). Examples: costochondral, costovertebral, interchondral, sternocostal joints.	
UBERON:0004665	muscular coat of seminal vesicle	biolink:AnatomicalEntity	mondo			muscle layer of seminal vesicle|muscular coat of seminal gland|muscular layer of seminal gland|tunica muscularis (vesicula seminalis)|tunica muscularis glandulae vesiculosae	http://purl.obolibrary.org/obo/UBERON_0004665	A muscular coat that is part of a seminal vesicle [Automatically generated definition].	
UBERON:0004663	aorta wall	biolink:AnatomicalEntity	mondo			aortic wall|wall of aorta	http://purl.obolibrary.org/obo/UBERON_0004663	An anatomical wall that is part of an aorta, enclosing the luminal space.	
HGNC:801	ATP1A3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/801		
HGNC:800	ATP1A2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/800		
GO:0010817	regulation of hormone levels	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010817	Any process that modulates the levels of hormone within an organism or a tissue. A hormone is any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action.	
UBERON:0016632	isthmus of fallopian tube	biolink:AnatomicalEntity	mondo			isthmus of oviduct|uterine tube isthmus|isthmus tubae uterinae|isthmus of uterine tube	http://purl.obolibrary.org/obo/UBERON_0016632		
UBERON:0004650	tongue keratinized epithelium	biolink:AnatomicalEntity	mondo			keratinized epithelium of tongue	http://purl.obolibrary.org/obo/UBERON_0004650	A keratinized stratified squamous epithelium that is part of a tongue.	
HGNC:15532	JAM3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15532		
GO:0071753	IgM immunoglobulin complex	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0071753	A protein complex composed of two identical immunoglobulin heavy chains of the IgM isotype and two identical immunoglobulin light chains, held together by disulfide bonds, and in its circulating form complexed with J chain in polymeric forms. An IgM immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph.	
HGNC:15533	SPRY4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15533		
UBERON:0004652	humerus diaphysis	biolink:AnatomicalEntity	mondo			diaphysis of humerus|shaft of humerus|shaft of the humerus|corpus humeri|body of humerus|humeral diaphysis|medial humerus|body of the humerus	http://purl.obolibrary.org/obo/UBERON_0004652	The body or shaft of the humerus is almost cylindrical in the upper half of its extent, prismatic and flattened below, and has three borders and three surfaces.	
CHEBI:47622	acetate ester	biolink:ChemicalSubstance	mondo			Acetyl ester|acetates|acetate|acetate esters|Acetic ester|acetyl esters|an acetyl ester	http://purl.obolibrary.org/obo/CHEBI_47622	Any carboxylic ester where the carboxylic acid component is acetic acid.	
UBERON:0004637	otic capsule	biolink:AnatomicalEntity	mondo			otic region|otic capsule skeletal element|otic capsule|otic capsule element|periotic|periotic capsule|auditory capsule|otic capsule endochondral element	http://purl.obolibrary.org/obo/UBERON_0004637	The capsule surrounding the inner ear mechanism.	
UBERON:0004638	blood vessel endothelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004638	An endothelium that lines the blood vasculature. Other endothelia may line lymph vessels, the heart	
HGNC:15505	MBOAT7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15505		
HGNC:15506	TSEN34	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15506		
HGNC:15508	PUS1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15508		
UBERON:0004647	liver lobule	biolink:AnatomicalEntity	mondo			lobuli hepatis|lobuli hepatici|lobules of liver|lobulus hepaticus|hepatic lobule	http://purl.obolibrary.org/obo/UBERON_0004647	the polygonal structure of the liver that consists of hepatocytes radiating outward from a hepatic vein	
UBERON:0004644	fourth ventricle ependyma	biolink:AnatomicalEntity	mondo			4th ventricle ependyma|ependyma of fourth ventricle	http://purl.obolibrary.org/obo/UBERON_0004644	An ependyma that is part of a fourth ventricle [Automatically generated definition].	
UBERON:0004645	urinary bladder urothelium	biolink:AnatomicalEntity	mondo			urothelium of urinary bladder|transitional epithelium of urinary bladder|urothelium|transitional epithelium|bladder transitional cell epithelium|urinary bladder transitional epithelium|epithelium of bladder	http://purl.obolibrary.org/obo/UBERON_0004645	The epithelial lining of the luminal space of the urinary bladder.	
UBERON:0004642	third ventricle ependyma	biolink:AnatomicalEntity	mondo			3rd ventricle ependyma|ependyma of third ventricle	http://purl.obolibrary.org/obo/UBERON_0004642	An ependyma that is part of a third ventricle [Automatically generated definition].	
UBERON:0004643	lateral ventricle ependyma	biolink:AnatomicalEntity	mondo			ependyma of lateral ventricle	http://purl.obolibrary.org/obo/UBERON_0004643	An ependyma that is part of a lateral ventricle [Automatically generated definition].	
UBERON:0004641	spleen capsule	biolink:AnatomicalEntity	mondo			tunica fibrosa splenica|tunica fibrosa (splen)(lien)|capsula splenica|capsule of spleen|Malpighian capsule|fibrous capsule of spleen|splenic capsule|fibroelastic coat of spleen	http://purl.obolibrary.org/obo/UBERON_0004641	the connective tissue that surrounds the spleen	
UBERON:0016612	auditory hillocks, pharyngeal arch 2 derived	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0016612	A collection of protruberances derived from pharyngeal arch 2 that develop into the concha, antihelix and antitragus.	
UBERON:0016611	auditory hillocks, pharyngeal arch 1 derived	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0016611	A collection of protruberances derived from pharyngeal arch 1 that develop into the tragus, crus of the helix, and helix.	
HGNC:15516	XYLT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15516		
CHEBI:35640	adrenergic uptake inhibitor	biolink:ChemicalSubstance	mondo			norepinephrine reuptake inhibitor|NRI|adrenergic reuptake inhibitor|adrenergic uptake inhibitors|adrenergic reuptake inhibitors|NERI|norepinephrine reuptake inhibitors|ARI	http://purl.obolibrary.org/obo/CHEBI_35640	Adrenergic uptake inhibitors are drugs that block the transport of adrenergic transmitters into axon terminals or into storage vesicles within terminals. The tricyclic antidepressants and amphetamines are among the therapeutically important drugs that may act via inhibition of adrenergic transport. Many of these drugs also block transport of serotonin.	
HGNC:15517	XYLT2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15517		
HGNC:15512	VANGL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15512		
HGNC:15511	VANGL2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15511		
MONDO:0005406	gestational diabetes	biolink:Disease	mondo	NCIT:C34942|MESH:D016640|ICD10:O24.4|UMLS:C0085207|SCTID:11687002|DOID:11714|EFO:0004593		gestational diabetes mellitus|maternal gestational diabetes mellitus|diabetes in pregnancy|GDM	http://purl.obolibrary.org/obo/MONDO_0005406	Carbohydrate intolerance first diagnosed during pregnancy.	DOID:11714|MESH:D016640|UMLS:C0085207|NCIT:C34942|SNOMEDCT:11687002
MONDO:0005405	childhood onset asthma	biolink:Disease	mondo	EFO:0004591|SCTID:233678006|UMLS:C0264408		pediatric asthma|pediatric asthma|asthma of childhood|childhood asthma	http://purl.obolibrary.org/obo/MONDO_0005405	Asthma that starts in childhood.	UMLS:C0264408|SNOMEDCT:233678006
MONDO:0005408	diabetes mellitus type 2 associated cataract	biolink:Disease	mondo	EFO:0004596			http://purl.obolibrary.org/obo/MONDO_0005408	Diabetic cataracts are thought to be caused by hyperglycemia associated with disturbed glucose metabolism	
MONDO:0005407	childhood eosinophilic esophagitis	biolink:Disease	mondo	EFO:0004594		pediatric eosinophilic esophagitis|pediatric eosinophilic esophagitis|eosinophilic esophagitis of childhood	http://purl.obolibrary.org/obo/MONDO_0005407	An eosinophilic esophagitis that starts in childhood.	
MONDO:0005402	lymphoid leukemia (disease)	biolink:Disease	mondo	NCIT:C7539|ICDO:981-983|MESH:D007945|UMLS:C0152271|DOID:10747|SCTID:188726003|EFO:0004289|ICD9:204.20|UMLS:C0023448|HP:0005526|ICDO:9820/3|ICD9:204|ICD9:204.2		lymphoid leukemia|lymphocytic leukemia|leukemia, LYMPHOCYTIC, malignant|lymphogenous leukemia|subacute lymphoid leukemia	http://purl.obolibrary.org/obo/MONDO_0005402	A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias.	SNOMEDCT:188726003|DOID:10747|UMLS:C0152271|NCIT:C7539|UMLS:C0023448|MESH:D007945
MONDO:0005401	colonic neoplasm	biolink:Disease	mondo	MESH:D003110|EFO:0004288|UMLS:C0009375|NCIT:C2953		tumor of colon|neoplasm of the colon|colonic neoplasm|colon neoplasm (disease)|colonic tumor|tumor of the colon|neoplasm of colon|colon neoplasm|colon tumor	http://purl.obolibrary.org/obo/MONDO_0005401	A benign or malignant neoplasm that affects the colon. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colonic adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.	MESH:D003110|NCIT:C2953|UMLS:C0009375
MONDO:0005404	myalgic encephalomeyelitis/chronic fatigue syndrome	biolink:Disease	mondo	NCIT:C3037|ICD10:R53.82|SCTID:51771007|ICD9:780.79|ICD9:780.71|ICD10:G93.3|MESH:D015673|DOID:8544|UMLS:C0015674|EFO:0004540		myalgic encephalitis|Postviral fatigue syndrome|chronic fatigue syndrome|systemic exertion intolerance disease|myalgic encephalomyelitis|CFS	http://purl.obolibrary.org/obo/MONDO_0005404	A medical condition characterized by long-term fatigue and other symptoms that limit a person's ability to carry out ordinary daily activities.	DOID:8544|NCIT:C3037|UMLS:C0015674|MESH:D015673|SNOMEDCT:51771007
MONDO:0005403	obsolete neonatal systemic lupus erthematosus	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005403		
MONDO:0005400	obsolete ventricular fibrillation	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005400		
CHEBI:35618	aromatic ether	biolink:ChemicalSubstance	mondo				http://purl.obolibrary.org/obo/CHEBI_35618	Any ether in which the oxygen is attached to at least one aryl substituent.	
UBERON:0002040	bronchial artery	biolink:AnatomicalEntity	mondo			rami bronchiales partis thoracicae aortae|bronchial arterial tree|arteriae bronchiales	http://purl.obolibrary.org/obo/UBERON_0002040	A systemic artery that supplies the lung with with oxygenated blood.	
CHEBI:35610	antineoplastic agent	biolink:ChemicalSubstance	mondo			antineoplastic|anticancer agent|antineoplastic agents|cytostatic|anticancer agents	http://purl.obolibrary.org/obo/CHEBI_35610	A substance that inhibits or prevents the proliferation of neoplasms.	
UBERON:0002042	lymphatic vessel endothelium	biolink:AnatomicalEntity	mondo			lymph vessel endothelium|endothelium of lymphatic vessel|endothelium of lymph vessel|lymphatic endothelium|lymphatic vessel endothelium	http://purl.obolibrary.org/obo/UBERON_0002042	An endothelium that is part of a lymphatic vessel [Automatically generated definition].	
UBERON:0002049	vasculature	biolink:AnatomicalEntity	mondo			vascular network	http://purl.obolibrary.org/obo/UBERON_0002049	An interconnected tubular multi-tissue structure contains fluid that is actively transported around the organism[ZFA]. Examples: vasculature of lung, vasculature of face.	
UBERON:0002048	lung	biolink:AnatomicalEntity	mondo			pulmo	http://purl.obolibrary.org/obo/UBERON_0002048	Respiration organ that develops as an outpocketing of the esophagus.	
ECTO:9000364	tetracycline exposure	biolink:OntologyClass	mondo			exposure to tetracycline	http://purl.obolibrary.org/obo/ECTO_9000364	An exposure to tetracycline.	
UBERON:0002047	pontine raphe nucleus	biolink:AnatomicalEntity	mondo			raphe pontis|raphe pontis nucleus|raphe (mediana pontina)|raphe of pons|nucleus raphe pontis|nucleus raphes pontis	http://purl.obolibrary.org/obo/UBERON_0002047	The pontine raphe nucleus is one of the raphe nuclei. It is located in the pontine tegmentum. [WP,unvetted].	
UBERON:0002046	thyroid gland	biolink:AnatomicalEntity	mondo			thyroid|glandula thyroidea	http://purl.obolibrary.org/obo/UBERON_0002046	A two-lobed endocrine gland found in all vertebrates, located in front of and on either side of the trachea in humans, and producing various hormones, such as triiodothyronine and calcitonin[BTO].	
MONDO:0005417	wet macular degeneration	biolink:Disease	mondo	ICD10:H35.32|MESH:D057135|UMLS:C0271084|UMLS:C2237660|ICD9:362.52|SCTID:414173003|DOID:10873|EFO:0004683		Kuhnt-Junius degeneration|wet AMD|exudative senile macular degeneration of retina|wet senile macular retinal degeneration|Senile macular degeneration, wet|wet ARMD|wet age related macular degeneration|neovascular age-related macular degeneration	http://purl.obolibrary.org/obo/MONDO_0005417	A form of RETINAL degeneration in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision.	SNOMEDCT:414173003|MESH:D057135|UMLS:C0271084|DOID:10873|UMLS:C2237660
MONDO:0005416	osteoarthritis, knee	biolink:Disease	mondo	EFO:0004616|COHD:4079750|MESH:D020370			http://purl.obolibrary.org/obo/MONDO_0005416	Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019)	MESH:D020370
MONDO:0005419	metamphetamine dependence	biolink:Disease	mondo	EFO:0004701			http://purl.obolibrary.org/obo/MONDO_0005419	A drug dependence that is a psychological dependency on the regular use of metamphetamine.	
MONDO:0005418	non-compaction cardiomyopathy	biolink:Disease	mondo	EFO:0004686			http://purl.obolibrary.org/obo/MONDO_0005418	Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates.	
MONDO:0005413	cystic fibrosis associated meconium ileus	biolink:Disease	mondo	EFO:0004608		cystic fibrosis associated meconium ileum	http://purl.obolibrary.org/obo/MONDO_0005413	Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis. In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosis. The presence of meconium ileus is not related to the severity of the cystic fibrosis.	
MONDO:0005412	duodenal ulcer (disease)	biolink:Disease	mondo	EFO:0004607|ICD10:K26|DOID:1724|MESH:D004381|SCTID:39755000|NCIT:C26755|HP:0002588|ICD9:532		curling Ulcer|stress Ulcer|curling's ulcers|duodenal ulcer	http://purl.obolibrary.org/obo/MONDO_0005412	An ulcer in the duodenal wall.	SNOMEDCT:39755000|DOID:1724|NCIT:C26755|MESH:D004381
MONDO:0005415	obsolete acute lung injury	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005415		
MONDO:0005414	treatment-refractory schizophrenia	biolink:Disease	mondo	EFO:0004609		refractory schizophrenia|TRS|treatment-refractory schizophrenia	http://purl.obolibrary.org/obo/MONDO_0005414	Schizophrenia which does not respond to commonly used treatments.	
CHEBI:35627	beta-lactam	biolink:ChemicalSubstance	mondo			beta-lactams|beta-Lactam|a beta-lactam	http://purl.obolibrary.org/obo/CHEBI_35627	A lactam in which the amide bond is contained within a four-membered ring, which includes the amide nitrogen and the carbonyl carbon.	
MONDO:0005411	gallbladder cancer	biolink:Disease	mondo	DOID:3121|EFO:0004606|ICD10:C23|ONCOTREE:GBC|ICD9:156.0|GARD:0009328|ICD9:156.8|UMLS:C0153452|COHD:4181327|NCIT:C7481|SCTID:363353009		gallbladder neoplasm|malignant neoplasm of gallbladder|malignant tumor of gallbladder|gall bladder cancer|localized malignant gallbladder neoplasm|gallbladder Ca|malignant gallbladder neoplasm|malignant tumour of gallbladder|malignant tumor of the gallbladder|malignant gall bladder neoplasm|cancer of gall bladder|malignant neoplasm of the gallbladder|malignant gallbladder tumor|tumor of the gallbladder|malignant neoplasm of gall bladder	http://purl.obolibrary.org/obo/MONDO_0005411	A malignant neoplasm involving the gall bladder	DOID:3121|NCIT:C7481|UMLS:C0153452|SNOMEDCT:363353009
MONDO:0005410	acute graft vs. host disease	biolink:Disease	mondo	EFO:0004599			http://purl.obolibrary.org/obo/MONDO_0005410	Graft-versus-host disease (GVHD) is a common complication following an allogeneic tissue transplant. It is commonly associated with stem cell or bone marrow transplant but the term also applies to other forms of tissue graft.	
UBERON:0002030	nipple	biolink:AnatomicalEntity	mondo			papilla mammaria|papilla mammae|papillary part of breast|papilla of breast|thele|teat|thelium	http://purl.obolibrary.org/obo/UBERON_0002030	Projection of skin containing the outlets for 15-20 lactiferous ducts arranged cylindrically around the tip.	
UBERON:0004691	bulbourethral gland secretion	biolink:AnatomicalEntity	mondo			bulbo-urethral gland secretion|secretion of bulbo-urethral gland|pre-ejaculate	http://purl.obolibrary.org/obo/UBERON_0004691	A bodily secretion that is produced by a bulbourethral gland.	
UBERON:0002031	epithelium of bronchus	biolink:AnatomicalEntity	mondo			epithelium of bronchi|bronchial trunk epithelium|epithelium of bronchial trunk|bronchi epithelium|epithelial tissue of bronchi|epithelial tissue of bronchial trunk|bronchi epithelial tissue|bronchial trunk epithelial tissue|bronchus epithelial tissue|bronchial epithelium|bronchus epithelium|epithelial tissue of bronchus	http://purl.obolibrary.org/obo/UBERON_0002031	An epithelium that is part of a bronchus [Automatically generated definition].	
CHEBI:35620	vasodilator agent	biolink:ChemicalSubstance	mondo			vasodilator agents|vasodilator	http://purl.obolibrary.org/obo/CHEBI_35620	A drug used to cause dilation of the blood vessels.	
UBERON:0004692	external naris epithelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004692	An epithelium that is part of an external naris [Automatically generated definition].	
CHEBI:35623	anticonvulsant	biolink:ChemicalSubstance	mondo			anti-convulsant|anti-convulsants|anticonvulsive agent|Antikonvulsiva|Antiepileptika|Antiepileptikum|anti-convulsive agents|Antikonvulsivum|antiepileptic|antiepileptiques|anticonvulsants|antiepileptique|anti-convulsive agent|antiepileptics|anticonvulsive agents	http://purl.obolibrary.org/obo/CHEBI_35623	A drug used to prevent seizures or reduce their severity.	
UBERON:0002037	cerebellum	biolink:AnatomicalEntity	mondo			corpus cerebelli|infratentorial region|epencephalon-1|parencephalon	http://purl.obolibrary.org/obo/UBERON_0002037	Part of the metencephalon that lies in the posterior cranial fossa behind the brain stem. It is concerned with the coordination of movement[MESH]. A large dorsally projecting part of the brain concerned especially with the coordination of muscles and the maintenance of bodily equilibrium, situated between the brain stem and the back of the cerebrum , and formed in humans of two lateral lobes and a median lobe[BTO]. Brain structure derived from the anterior hindbrain, and perhaps including posterior midbrain. The cerebellum plays a role in somatic motor function, the control of muscle tone, and balance[ZFA].	
UBERON:0004699	outflow tract endothelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004699	An endothelium that is part of a outflow tract [Automatically generated definition].	
ECTO:9000376	formic acid exposure	biolink:OntologyClass	mondo			exposure to formic acid	http://purl.obolibrary.org/obo/ECTO_9000376	An exposure to formic acid.	
MONDO:0005409	obsolete variant Creutzfeld Jacob disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005409		
UBERON:0002033	arrector muscle of hair	biolink:AnatomicalEntity	mondo			pilomotor muscle|erectores pilorum|arrector pili muscle|arrector pili smooth muscle|arectores pilorum|arrector pili|arrector pilli muscle|arrector pilli|erector pili|arrector pilorum|arrector pilorum muscle of hair	http://purl.obolibrary.org/obo/UBERON_0002033	A tiny smooth muscle that connects the hair follicle with the dermis.	
UBERON:0004698	vena cava endothelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004698	An endothelium that is part of a vena cava [Automatically generated definition].	
UBERON:0004695	arterial system smooth muscle	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004695	A portion of smooth muscle tissue that is part of an arterial system [Automatically generated definition].	
UBERON:0002036	striated muscle tissue	biolink:AnatomicalEntity	mondo			striated muscle	http://purl.obolibrary.org/obo/UBERON_0002036	Muscle tissue that contains fibers that are divided by transverse bands into striations.	
UBERON:0004696	venous system smooth muscle	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004696	A portion of smooth muscle tissue that is part of a venous system [Automatically generated definition].	
UBERON:0002019	accessory XI nerve	biolink:AnatomicalEntity	mondo			accessory XI nerve|spinal accessory nerve|nervus accessorius [XI]|cervical accessory nerve|eleventh cranial nerve|radix spinalis nervus accessorius|accessory nerve [XI]|Willis' nerve|spinal accessory nerve tree|pars spinalis nervus accessorius|accessory spinal nerve|cranial nerve XI|accessory XI|CN-XI|spinal part of accessory nerve|accessory nerve	http://purl.obolibrary.org/obo/UBERON_0002019	A cranial nerve that originates from neurons in the medulla and in the cervical spinal cord.	
NCBITaxon:68459	Giardiinae	organism taxon	mondo	GC_ID:6			http://purl.obolibrary.org/obo/NCBITaxon_68459		
UBERON:0002021	occipital lobe	biolink:AnatomicalEntity	mondo			regio occipitalis|lobus occipitalis	http://purl.obolibrary.org/obo/UBERON_0002021	Posterior part of the cerebral hemisphere (MSH)	
UBERON:0002020	gray matter	biolink:AnatomicalEntity	mondo			substantia grisea|grey matter|neuronal grey matter|grey matter of neuraxis|grey substance|gray matter|gray matter of neuraxis|grisea|gray mater	http://purl.obolibrary.org/obo/UBERON_0002020	A nervous system structure composed primarily of nerve cell bodies (somas). May also include dendrites and the initial unmyelinated portion of axons.	
UBERON:0004681	vestibular system	biolink:AnatomicalEntity	mondo			vestibulomotor system|vestibular system|vestibular organ system|equilibrioception system	http://purl.obolibrary.org/obo/UBERON_0004681	The sensory system for the sense of balance.	
UBERON:0002027	stratum corneum of epidermis	biolink:AnatomicalEntity	mondo			keratinized squame layer|keratinized squame layer of epidermis|stratum corneum|epidermis stratum corneum|horny layer of epidermis|cornified layer|horny layer|stratum corneum epidermidis	http://purl.obolibrary.org/obo/UBERON_0002027	the outer layer of the epidermis, consisting of several layers of flat keratinized non-nucleated cells	
UBERON:0002026	stratum spinosum of epidermis	biolink:AnatomicalEntity	mondo			prickle cell layer|stratum Malpighii|squamous cell layer of epidermis|stratum spinosum|epidermis prickle cell layer|prickle cell layer of epidermis|epidermis stratum spinosum|Malpighian layer	http://purl.obolibrary.org/obo/UBERON_0002026	the layer of polyhedral cells in the epidermis found between the stratum granulosum and stratum basale; shrinkage and adhesion of these cells gives a spiny or prickly appearance	
UBERON:0002029	epithelium of gall bladder	biolink:AnatomicalEntity	mondo			epithelium of gallbladder|gall bladder epithelial tissue|epithelial tissue of gallbladder|gallbladder epithelial tissue|epithelial tissue of gall bladder|biliary epithelium|gallbladder epithelium|gall bladder epithelium	http://purl.obolibrary.org/obo/UBERON_0002029	The simple columnar epithelial lining of the gall bladder.	
UBERON:0004688	costo-cervical trunk	biolink:AnatomicalEntity	mondo			costocervical trunk|truncus costocervicalis|trunk of costocervical artery	http://purl.obolibrary.org/obo/UBERON_0004688	The costocervical trunk arises from the upper and back part of the subclavian artery, behind the scalenus anterior on the right side, and medial to that muscle on the left side. Passing backward, it splits into the deep cervical artery and the supreme intercostal artery (or the Highest intercostal artery), which descends behind the pleura in front of the necks of the first and second ribs, and anastomoses with the first aortic intercostal (3rd posterior intercostal artery). As it crosses the neck of the first rib it lies medial to the anterior division of the first thoracic nerve, and lateral to the first thoracic ganglion of the sympathetic trunk. In the first intercostal space, it gives off a branch which is distributed in a manner similar to the distribution of the aortic intercostals. The branch for the second intercostal space usually joins with one from the highest aortic intercostal artery. This branch is not constant, but is more commonly found on the right side; when absent, its place is supplied by an intercostal branch from the aorta. Each intercostal gives off a posterior branch which goes to the posterior vertebral muscles, and sends a small spinal branch through the corresponding intervertebral foramen to the medulla spinalis and its membranes. [WP,unvetted].	
UBERON:0002028	hindbrain	biolink:AnatomicalEntity	mondo			rhombencephalon	http://purl.obolibrary.org/obo/UBERON_0002028	The most posterior of the three principal regions of the brain. In mammals and birds the hindbrain is divided into a rostral metencephalon and a caudal myelencephalon. In zebrafish, with the exception of the cerebellum, the ventral remainder of the metencephalon can be separated only arbitrarily from the more caudal myelencephalic portion of the medulla oblongata (From: Neuroanatomy of the Zebrafish Brain)[ZFA]. Organ component of neuraxis that has as its parts the pons, cerebellum and medulla oblongata[FMA].	
UBERON:0002025	stratum basale of epidermis	biolink:AnatomicalEntity	mondo			basal cell layer of epidermis|stratum basalis of epidermis|epidermis stratum basale|basal layer of epidermis|basal cell layer of skin|basal epidermal layer|stratum germinosum|epidermis stratum germinativum|epidermal basal stratum|stratum Malpighi|epidermis basal layer|stratum basale|stratum germinosum of epidermis|rete Malphighii|rete Malpighii|Malpighian layer|stratum germinativum|epidermis sensorial layer	http://purl.obolibrary.org/obo/UBERON_0002025	the deepest layer of the epidermis, which is composed of dividing stem cells and anchoring cells	
UBERON:0004684	raphe nuclei	biolink:AnatomicalEntity	mondo			raphe cluster|nuclei raphes|raphe of mesenchephalon|raphe nucleus|nuclei raphes|set of raphe nuclei|raphe nuclei set|raphe nuclei	http://purl.obolibrary.org/obo/UBERON_0004684	The raphe nuclei are thin plates of cells in and immediately adjacent to the sagittal plane.	
UBERON:0002008	cardiac nerve plexus	biolink:AnatomicalEntity	mondo			autonomic plexus of heart|plexus cardiacus|heart autonomic nerve plexus|cardiac plexus|autonomic nerve plexus of heart|heart autonomic plexus	http://purl.obolibrary.org/obo/UBERON_0002008	A plexus of nerves situated at the base of the heart that innervate the heart.	
CHEBI:35605	carbon oxoacid	biolink:ChemicalSubstance	mondo			oxoacids of carbon|carbon oxoacids	http://purl.obolibrary.org/obo/CHEBI_35605		
CHEBI:35604	carbon oxoanion	biolink:ChemicalSubstance	mondo			oxocarbon anion|carbon oxoanion|carbon oxoanions|oxocarbon anions	http://purl.obolibrary.org/obo/CHEBI_35604	A negative ion consisting solely of carbon and oxygen  atoms, and therefore having the general formula CxOy(n-) for some integers x, y and n.	
UBERON:0004670	ependyma	biolink:AnatomicalEntity	mondo			lamina epithelialis|ependyma of neuraxis|ependymal epithelium	http://purl.obolibrary.org/obo/UBERON_0004670	The thin epithelium-like membrane composed of ependymal cells that lines the ventricular system of the brain and the spinal cord.	
UBERON:0002016	pulmonary vein	biolink:AnatomicalEntity	mondo			venae pulmonales|pulmonary venous tree organ part	http://purl.obolibrary.org/obo/UBERON_0002016	Pulmonary veins are blood vessels that transport blood from the lungs to the heart[GO].	
UBERON:0004679	dentate gyrus molecular layer	biolink:AnatomicalEntity	mondo			molecular layer of dentate gyrus|stratum moleculare gyri dentati|molecular layer of the dentate gyrus|dentate gyrus molecular layer	http://purl.obolibrary.org/obo/UBERON_0004679	The molecular layer of the dentate gyrus that is bounded by the pial surface superficially and the dentate gyrus granule cell layer deep. It is divided into 2 or more sublayers.	
SO:0001217	protein_coding_gene	biolink:SequenceFeature	mondo			protein coding gene	http://purl.obolibrary.org/obo/SO_0001217	A gene that codes for an RNA that can be translated into a protein.	
UBERON:0002015	kidney capsule	biolink:AnatomicalEntity	mondo			capsula fibrosa renis|renal capsule|capsule of kidney|fibrous capsule of kidney	http://purl.obolibrary.org/obo/UBERON_0002015	the tough fibrous layer surrounding the kidney which is covered in a thick layer of perirenal adipose tissue that functions to provide some protection from trauma and damage	
UBERON:0002018	synovial membrane of synovial joint	biolink:AnatomicalEntity	mondo			synovium of articular capsule of synovial joint|membrana synovialis capsulae articularis|synovial layer|membrana synovialis (capsula articularis)|synovial layer of articular capsule of synovial joint|synovium|stratum synoviale (capsula articularis)|synovial membrane|synovial membrane of articular capsule of synovial joint|stratum synoviale	http://purl.obolibrary.org/obo/UBERON_0002018	Soft tissue that lines the non-cartilaginous surfaces within joints with cavities (synovial joints).	
UBERON:0002017	portal vein	biolink:AnatomicalEntity	mondo			portal venous tree organ part	http://purl.obolibrary.org/obo/UBERON_0002017	A vein that conducts blood from the digestive organs, spleen, pancreas, and gallbladder to the liver[BTO].	
UBERON:0004675	hypoglossal nerve root	biolink:AnatomicalEntity	mondo			hypoglossal nerve fiber bundle|root of hypoglossal nerve|hypoglossal nerve fibers|hypoglossal nerve tract|hypoglossal nerve root|central part of hypoglossal nerve|root of hypoglossal nerve|hypoglossal nerve/ root|fibrae nervi hypoglossi|hypoglossal nerve fibers|central part of hypoglossal nerve	http://purl.obolibrary.org/obo/UBERON_0004675	A nerve root that extends_fibers_into a hypoglossal nerve.	
UBERON:0002012	pulmonary artery	biolink:AnatomicalEntity	mondo			pulmonary arterial tree organ part|arteria pulmonalis|pulmonary arterial tree|truncus pulmonalis|pulmonary arterial subtree	http://purl.obolibrary.org/obo/UBERON_0002012	An artery that carries deoxygenated blood from heart to the lungs. They are the only arteries (other than umbilical arteries in the fetus) that carry deoxygenated blood..	
UBERON:0004673	trigeminal nerve root	biolink:AnatomicalEntity	mondo			trigeminal nerve root|descending trigeminal root|root of trigeminal V nerve|radix descendens nervi trigemini|root of trigeminal nerve|trigeminal neural root	http://purl.obolibrary.org/obo/UBERON_0004673	A nerve root that extends_fibers_into a trigeminal nerve.	
UBERON:0004674	facial nerve root	biolink:AnatomicalEntity	mondo			facial nerve/root|facial nerve fibers|fibrae nervi facialis|root of facial nerve|facial neural root|central part of facial nerve|facial nerve root|facial nerve or its root	http://purl.obolibrary.org/obo/UBERON_0004674	A nerve root that extends_fibers_into a facial nerve.	
HGNC:634	AQP2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/634		
UBERON:0004701	venous system endothelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004701	An endothelium that is part of a venous system [Automatically generated definition].	
UBERON:0004702	respiratory system blood vessel endothelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004702	A blood vessel endothelium that is part of a respiratory system [Automatically generated definition].	
UBERON:0004700	arterial system endothelium	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004700	An endothelium that is part of an arterial system [Automatically generated definition].	
HGNC:626	APRT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/626		
HGNC:644	AR	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/644		
ENVO:02500031	hydrological process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/ENVO_02500031	An environmental process which has water - in any of its states - as a participant.	
HGNC:613	APOE	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/613		
HGNC:610	APOC3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/610		
GO:0010985	negative regulation of lipoprotein particle clearance	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010985	Any process that decreases the rate, frequency, or extent of lipoprotein particle clearance. Lipoprotein particle clearance is the process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded.	
GO:0010986	positive regulation of lipoprotein particle clearance	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010986	Any process that increases the rate, frequency, or extent of lipoprotein particle clearance. Lipoprotein particle clearance is the process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded.	
GO:0009991	response to extracellular stimulus	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0009991	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an extracellular stimulus.	
ENVO:00010483	environmental material	biolink:OntologyClass	mondo			portion of environmental material|environmental	http://purl.obolibrary.org/obo/ENVO_00010483	A portion of environmental material is a fiat object which forms the medium or part of the medium of an environmental system.	
GO:0019319	hexose biosynthetic process	biolink:OntologyClass	mondo			hexose anabolism|hexose synthesis|hexose formation|hexose biosynthesis	http://purl.obolibrary.org/obo/GO_0019319	The chemical reactions and pathways resulting in the formation of hexose, any monosaccharide with a chain of six carbon atoms in the molecule.	
CHEBI:59560	sapropterin	biolink:ChemicalSubstance	mondo			6R-5,6,7,8-tetrahydrobiopterin|(6R)-L-erythro-tetrahydrobiopterin|6R-L-5,6,7,8-tetrahydrobiopterin|sapropterin|2-Amino-6-(1,2-dihydroxypropyl)-5,6,7,8-tetrahydoro-4(1H)-pteridinone|(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin|tetrahydrobiopterin|(-)-(6R)-2-amino-6-((1R,2S)-1,2-dihydroxypropyl)-5,6,7,8-tetrahydro-4(3H)-pteridinone|R-THBP|6R-BH4|sapropterinum|sapropterina|(6R)-2-amino-6-[(1R,2S)-1,2-dihydroxypropyl]-5,6,7,8-tetrahydropteridin-4(3H)-one|5,6,7,8-Tetrahydrobiopterin	http://purl.obolibrary.org/obo/CHEBI_59560	A tetrahydropterin that is 2-amino-5,6,7,8-tetrahydropteridin-4(3H)-one in which a hydrogen at position 6 is substituted by a 1,2-dihydroxypropyl group (6R,1'R,2'S-enantiomer).	
GO:0010984	regulation of lipoprotein particle clearance	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010984	Any process that modulates the rate, frequency, or extent of lipoprotein particle clearance. Lipoprotein particle clearance is the process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded.	
GO:0019318	hexose metabolic process	biolink:OntologyClass	mondo			hexose metabolism	http://purl.obolibrary.org/obo/GO_0019318	The chemical reactions and pathways involving a hexose, any monosaccharide with a chain of six carbon atoms in the molecule.	
GO:0071944	cell periphery	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0071944	The part of a cell encompassing the cell cortex, the plasma membrane, and any external encapsulating structures.	
NCBITaxon:8049	Gadus morhua	organism taxon	mondo	GC_ID:1		Atlantic cod	http://purl.obolibrary.org/obo/NCBITaxon_8049		
NCBITaxon:8048	Gadus	organism taxon	mondo	GC_ID:1		Theragra	http://purl.obolibrary.org/obo/NCBITaxon_8048		
GO:0071941	nitrogen cycle metabolic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0071941	A nitrogen compound metabolic process that contributes to the nitrogen cycle. The nitrogen cycle is a series of metabolic pathways by which nitrogen is converted between various forms and redox states; it encompasses pathways in which nitrogen is acted upon directly, such as nitrification, denitrification, nitrogen fixation, and mineralization.	
HGNC:609	APOC2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/609		
NCBITaxon:8045	Gadidae	organism taxon	mondo	GC_ID:1		tadpole cod|Ranicipitidae|cods	http://purl.obolibrary.org/obo/NCBITaxon_8045		
NCBITaxon:8043	Gadiformes	organism taxon	mondo	GC_ID:1		cods and others	http://purl.obolibrary.org/obo/NCBITaxon_8043		
HGNC:620	APP	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/620		
GO:0007346	regulation of mitotic cell cycle	biolink:OntologyClass	mondo			mitotic cell cycle modulation|mitotic cell cycle regulation|regulation of progression through mitotic cell cycle|modulation of mitotic cell cycle progression|regulation of mitotic cell cycle progression|mitotic cell cycle regulator	http://purl.obolibrary.org/obo/GO_0007346	Any process that modulates the rate or extent of progress through the mitotic cell cycle.	
GO:0046997	oxidoreductase activity, acting on the CH-NH group of donors, flavin as acceptor	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0046997	Catalysis of an oxidation-reduction (redox) reaction in which a CH-NH group acts as a hydrogen or electron donor and reduces a flavin.	
HGNC:619	APOL2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/619		
HGNC:618	APOL1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/618		
UBERON:0004739	pronephric glomerulus	biolink:AnatomicalEntity	mondo			corpuscle|pronephric glomeruli|pronephric glomera|glomera|pronephric glomus|glomerulus of pronephros|glomus	http://purl.obolibrary.org/obo/UBERON_0004739	The glomus forms from the splanchnic intermediate mesoderm and is the vascularized filtration unit, filtering the blood before it enters the tubules. The glomus is external to the nephron and extends over more than one body segment.	
UBERON:0004736	metanephric glomerulus	biolink:AnatomicalEntity	mondo			glomerulus of metanephros	http://purl.obolibrary.org/obo/UBERON_0004736	glomerulus of the mature vertebrate kidney, or metanephros.	
UBERON:0004737	metanephric collecting duct	biolink:AnatomicalEntity	mondo			collecting duct of metanephros|metanephric collecting tubule	http://purl.obolibrary.org/obo/UBERON_0004737	A collecting duct of renal tubule that is part of a metanephros [Automatically generated definition].	
CHEBI:35571	mancude organic heterocyclic parent	biolink:ChemicalSubstance	mondo			mancude organic heterocyclic parents|mancude-ring organic heterocyclic parents	http://purl.obolibrary.org/obo/CHEBI_35571		
UBERON:0004742	dentary	biolink:AnatomicalEntity	mondo			dentale|dentaries|sur-angulaire|os dentale|dentary bone	http://purl.obolibrary.org/obo/UBERON_0004742	The dentary is a dermal bone that forms the antero-lateral part of the lower jaw in fishes and amphibians, extending to the whole lower jaw in mammals[VHOG,modified].	
CHEBI:35573	organic mancude parent	biolink:ChemicalSubstance	mondo			organic mancude parents|organic mancude-ring parents	http://purl.obolibrary.org/obo/CHEBI_35573		
HGNC:603	APOB	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/603		
HGNC:601	APOA2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/601		
HGNC:600	APOA1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/600		
UBERON:0004727	cochlear nerve	biolink:AnatomicalEntity	mondo			auditory nerve|vestibulocochlear VIII nerve cochlear component|vestibulocochlear nerve cochlear component|cochlear component|cochlear root of acoustic nerve|cochlear root of eighth cranial nerve|nervus vestibulocochlearis	http://purl.obolibrary.org/obo/UBERON_0004727	A nerve in the head that carries signals from the cochlea of the inner ear to the brain. It is part of the vestibulocochlear nerve, the 8th cranial nerve which is found in higher vertebrates; the other portion of the 8th cranial nerve is the vestibular nerve which carries spatial orientation information from the semicircular canals. The cochlear nerve is a sensory nerve, one which conducts to the brain information about the environment, in this case acoustic energy impinging on the tympanic membrane. The cochlear nerve arises from within the cochlea and extends to the brainstem, where its fibers make contact with the cochlear nucleus, the next stage of neural processing in the auditory system[WP].	
GO:0010976	positive regulation of neuron projection development	biolink:OntologyClass	mondo			positive regulation of neurite biosynthesis|positive regulation of neurite formation|positive regulation of neurite growth|positive regulation of neurite development	http://purl.obolibrary.org/obo/GO_0010976	Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).	
GO:0010977	negative regulation of neuron projection development	biolink:OntologyClass	mondo			negative regulation of neurite development|negative regulation of neurite growth|negative regulation of neurite formation|growth cone collapse|negative regulation of neurite biosynthesis	http://purl.obolibrary.org/obo/GO_0010977	Any process that decreases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).	
GO:0010975	regulation of neuron projection development	biolink:OntologyClass	mondo			regulation of neurite development|regulation of neurite biosynthesis|regulation of neurite formation|regulation of neurite growth	http://purl.obolibrary.org/obo/GO_0010975	Any process that modulates the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).	
GO:0007320	insemination	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0007320	The introduction of semen or sperm into the genital tract of a female.	
GO:0010970	transport along microtubule	biolink:OntologyClass	mondo			microtubule-based transport|establishment of localization by movement along microtubule|movement along microtubule	http://purl.obolibrary.org/obo/GO_0010970	The movement of organelles or other particles from one location in the cell to another along microtubules, driven by motor activity.	
GO:0009987	cellular process	biolink:OntologyClass	mondo			single-organism cellular process|cell physiology|cellular physiological process|cell growth and/or maintenance	http://purl.obolibrary.org/obo/GO_0009987	Any process that is carried out at the cellular level, but not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level.	
UBERON:0004734	gastrula	biolink:AnatomicalEntity	mondo			trilaminar germ|blastocystis trilaminaris|trilaminar disc|tri-laminar disk|gastrula embryo|trilaminar blastoderm|trilaminar blastocyst|trilaminar disk|tri-laminar disc	http://purl.obolibrary.org/obo/UBERON_0004734	Organism at the gastrula stage.	
GO:0071953	elastic fiber	biolink:OntologyClass	mondo			elastic fibre|elastin fiber	http://purl.obolibrary.org/obo/GO_0071953	An supramolecular fiber that consists of an insoluble core of polymerized tropoelastin monomers and a surrounding mantle of microfibrils. Elastic fibers provide elasticity and recoiling to tissues and organs, and maintain structural integrity against mechanical strain.	
UBERON:0004732	segmental subdivision of nervous system	biolink:AnatomicalEntity	mondo			neuromere	http://purl.obolibrary.org/obo/UBERON_0004732	Any segmental subdivision of a nervous system. Includes metameric developmental segments, such as vertebrates neuromeres.	
UBERON:0004733	segmental subdivision of hindbrain	biolink:AnatomicalEntity	mondo			segment of hindbrain|hindbrain segment	http://purl.obolibrary.org/obo/UBERON_0004733	An organ subunit that is part of a hindbrain [Automatically generated definition].	
UBERON:0004731	neuromere	biolink:AnatomicalEntity	mondo			neural segment|neuromeres|neural metamere|neural tube segment|neural tube metameric segment|neuromere	http://purl.obolibrary.org/obo/UBERON_0004731	A transverse unitary subdivision of the neural tube that shares a common dorsoventral structure (floor, basal, alar, and roof plates), but each having differential molecular identities and fates; they comprise the secondary prosencephalon, diencephalon (prosomeres), the midbrain (mesomeres), and the hindbrain (rhombomeres).	
UBERON:0004716	conceptus	biolink:AnatomicalEntity	mondo			embryo plus adnexa	http://purl.obolibrary.org/obo/UBERON_0004716	The embryo and its adnexa (appendages or adjunct parts) or associated membranes (i.e. the products of conception) The conceptus includes all structures that develop from the zygote, both embryonic and extraembryonic. It includes the embryo as well as the embryonic part of the placenta and its associated membranes - amnion, chorion (gestational sac), and yolk sac[WP].	
UBERON:0004715	annulus fibrosus disci intervertebralis	biolink:AnatomicalEntity	mondo			annulus fibrosus of intervertebral disc|annulus fibrosus|anulus fibrosus (diskus intervertebralis)|fibrous ring of intervertebral disc|anulus fibrosus of intervertebral disk	http://purl.obolibrary.org/obo/UBERON_0004715	The ring of fibrocartilage and fibrous tissue forming the circumference of the intervertebral disc; surrounds the nucleus pulposus, which is prone to herniation when the annulus fibrosus is compromised.	
GO:0010941	regulation of cell death	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010941	Any process that modulates the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death.	
GO:0010942	positive regulation of cell death	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010942	Any process that increases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death.	
GO:0010948	negative regulation of cell cycle process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010948	Any process that decreases the rate, frequency or extent of a cellular process that is involved in the progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events.	
CHEBI:35552	heterocyclic organic fundamental parent	biolink:ChemicalSubstance	mondo			heterocyclic organic fundamental parents|organic heterocyclic fundamental parents|heterocyclic parent hydrides|heterocyclic fundamental parent	http://purl.obolibrary.org/obo/CHEBI_35552		
CHEBI:35555	mancude organic heteromonocyclic parent	biolink:ChemicalSubstance	mondo			mancude organic heteromonocyclic parents|mancude-ring organic heteromonocyclic parents	http://purl.obolibrary.org/obo/CHEBI_35555		
CHEBI:35554	cardiovascular drug	biolink:ChemicalSubstance	mondo			cardiovascular agent|cardiovascular drugs	http://purl.obolibrary.org/obo/CHEBI_35554	A drug that affects the rate or intensity of cardiac contraction, blood vessel diameter or blood volume.	
UBERON:0004720	cerebellar vermis	biolink:AnatomicalEntity	mondo			vermis of cerebellum [I-X]|vermis cerebelli|vermis|vermis of cerebellum|vermal parts of the cerebellum|vermis cerebelli [I-X]|cerebellum vermis|vermal regions	http://purl.obolibrary.org/obo/UBERON_0004720	A subregion of the cerebellar cortex, consisting of the most medial zone of the cerebellar cortex, stradding the midline. May be continuous with the lateral cerebellar hemispheres in some areas of the cerebellum, e.g., dorsally, or separated by deeper fissures in others (e.g., ventrally)	
UBERON:0004709	pelvic appendage	biolink:AnatomicalEntity	mondo			hindlimb/pelvic fin|posterior appendage|pelvic limb/fin|posterior paired appendage|posterior limb/fin|pelvic appendage	http://purl.obolibrary.org/obo/UBERON_0004709	Paired appendage that consists of the posterior appendicular skeleton and associated soft and hard tissues, but excludes the pelvic girdle and its associated soft and hard tissues.	
UBERON:0004707	pharyngula stage	biolink:AnatomicalEntity	mondo			phylotypic stage|pharyngula	http://purl.obolibrary.org/obo/UBERON_0004707	A stage that follows the blastula, gastrula and neurula stages. At the pharyngula stage, all vertebrate embryos show remarkable similarities.	
UBERON:0004708	paired limb/fin	biolink:AnatomicalEntity	mondo			girdle-associated appendage|paired appendage|jointed paired lateral appendage|pelvic/pectoral appendage|pectoral or pelvic appendage|limb/fin|limb or fin	http://purl.obolibrary.org/obo/UBERON_0004708	An appendage that is part of an appendage girdle complex.	
UBERON:0004706	bulbus cordis	biolink:AnatomicalEntity	mondo			primitive right ventricle endocardium	http://purl.obolibrary.org/obo/UBERON_0004706	a transient fetal dilation of the distal (or cranial) heart tube located where the arterial trunk joins the ventral roots of the aortic arches	
UBERON:0004704	bone fossa	biolink:AnatomicalEntity	mondo			fossae|depressions|groove|concavity|depression|concavities|fossa	http://purl.obolibrary.org/obo/UBERON_0004704	A depression or hollow in a bone[WP].	
GO:0010954	positive regulation of protein processing	biolink:OntologyClass	mondo			positive regulation of protein maturation by peptide bond cleavage	http://purl.obolibrary.org/obo/GO_0010954	Any process that increases the rate, frequency or extent of protein maturation by peptide bond cleavage.	
GO:0010955	negative regulation of protein processing	biolink:OntologyClass	mondo			negative regulation of protein maturation by peptide bond cleavage	http://purl.obolibrary.org/obo/GO_0010955	Any process that decreases the rate, frequency or extent of protein maturation by peptide bond cleavage.	
GO:0010952	positive regulation of peptidase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010952	Any process that increases the frequency, rate or extent of peptidase activity, the hydrolysis of peptide bonds within proteins.	
GO:0010959	regulation of metal ion transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010959	Any process that modulates the frequency, rate, or extent of metal ion transport. Metal ion transport is the directed movement of metal ions, any metal ion with an electric charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
GO:0010957	negative regulation of vitamin D biosynthetic process	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010957	Any process that decreases the rate, frequency or extent of a vitamin D biosynthetic process. Vitamin D biosynthesis is the chemical reactions and pathways resulting in the formation of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3).	
CHEBI:35568	mancude ring	biolink:ChemicalSubstance	mondo			mancude rings|mancude-ring systems|mancunide-ring systems	http://purl.obolibrary.org/obo/CHEBI_35568	Any molecular entity that consists of a ring having (formally) the maximum number of noncumulative double bonds.	
GO:0010950	positive regulation of endopeptidase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010950	Any process that increases the frequency, rate or extent of endopeptidase activity, the endohydrolysis of peptide bonds within proteins.	
GO:0010951	negative regulation of endopeptidase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010951	Any process that decreases the frequency, rate or extent of endopeptidase activity, the endohydrolysis of peptide bonds within proteins.	
CHEBI:59517	DNA synthesis inhibitor	biolink:ChemicalSubstance	mondo			DNA synthesis inhibitors	http://purl.obolibrary.org/obo/CHEBI_59517	Any substance that inhibits the synthesis of DNA.	
GO:0009966	regulation of signal transduction	biolink:OntologyClass	mondo			regulation of signaling pathway|regulation of signalling pathway	http://purl.obolibrary.org/obo/GO_0009966	Any process that modulates the frequency, rate or extent of signal transduction.	
GO:0009967	positive regulation of signal transduction	biolink:OntologyClass	mondo			up-regulation of signal transduction|up regulation of signal transduction|positive regulation of signalling pathway|activation of signal transduction|stimulation of signal transduction|upregulation of signal transduction|positive regulation of signaling pathway	http://purl.obolibrary.org/obo/GO_0009967	Any process that activates or increases the frequency, rate or extent of signal transduction.	
UBERON:0004710	pectoral appendage	biolink:AnatomicalEntity	mondo			forelimb - pectoral fin|anterior appendage|forelimb/pectoral fin|forelimb or pectoral fin|pectoral limb/fin|anterior limb/fin|anterior paired appendage	http://purl.obolibrary.org/obo/UBERON_0004710	Paired appendage that consists of the anterior appendicular skeleton and associated soft and hard tissues, but excludes the pectoral girdle and its associated soft and hard tissues.	
HP:0041051	Ageusia	biolink:PhenotypicFeature	mondo			Absent sense of taste|Impaired taste sensation|Lost taste	http://purl.obolibrary.org/obo/HP_0041051	A rare condition that is characterized by a complete loss of taste function of the tongue.	
GO:0009968	negative regulation of signal transduction	biolink:OntologyClass	mondo			inhibition of signal transduction|negative regulation of signaling pathway|negative regulation of signalling pathway|downregulation of signal transduction|down-regulation of signal transduction|down regulation of signal transduction	http://purl.obolibrary.org/obo/GO_0009968	Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction.	
UBERON:0004711	jugular vein	biolink:AnatomicalEntity	mondo			jugular|vena jugularis	http://purl.obolibrary.org/obo/UBERON_0004711	The jugular veins are veins that bring deoxygenated blood from the head back to the heart via the superior vena cava.	
GO:0071971	extracellular exosome assembly	biolink:OntologyClass	mondo			extracellular vesicular exosome assembly	http://purl.obolibrary.org/obo/GO_0071971	The aggregation, arrangement and bonding together of a set of components to form an extracellular vesicular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Exosomes are defined by their size, which generally ranges from 30 nm to 100 nm.	
MONDO:0017270	autosomal ichthyosis syndrome	biolink:Disease	mondo	UMLS:CN202791|Orphanet:281217	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017270		ORPHA:281217|UMLS:CN202791
MONDO:0017271	autosomal ichthyosis syndrome with prominent hair abnormalities	biolink:Disease	mondo	UMLS:CN202792|Orphanet:281222	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017271		ORPHA:281222|UMLS:CN202792
MONDO:0017272	autosomal ichthyosis syndrome with prominent neurologics signs	biolink:Disease	mondo	UMLS:CN202793|Orphanet:281238	ordo_group_of_disorders	autosomal ichthyosis syndrome with prominent neurologic signs	http://purl.obolibrary.org/obo/MONDO_0017272		ORPHA:281238|UMLS:CN202793
MONDO:0005288	intestinal polyp (disease)	biolink:Disease	mondo	EFO:0003855|MESH:D007417|ICD9:569.89|SCTID:254588001|HP:0005266		intestinal polyp	http://purl.obolibrary.org/obo/MONDO_0005288	Discrete abnormal tissue masses that protrude into the lumen of the intestine. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base.	SNOMEDCT:254588001|MESH:D007417
MONDO:0042233	disseminated candidiasis	biolink:Disease	mondo	GARD:0001076|NCIT:C116812|SCTID:70572005	gard_rare	invasive candidiasis|systemic candidiasis|disseminated candidiasis|disseminated candidosis|systemic candida infections|disseminated candida	http://purl.obolibrary.org/obo/MONDO_0042233	Systemic candidiasis occurs when Candida yeast enters the bloodstream and may spread (becoming disseminated candidiasis) to other organs, including the central nervous system, kidneys, liver, bones, muscles, joints, spleen, or eyes.	SNOMEDCT:70572005|NCIT:C116812
MONDO:0005287	developmental disability	biolink:Disease	mondo	EFO:0003852|MESH:D002658			http://purl.obolibrary.org/obo/MONDO_0005287	Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)	MESH:D002658
MONDO:0005289	paranasal sinus neoplasm (disease)	biolink:Disease	mondo	DOID:1350|EFO:0003866|UMLS:C0030470|SCTID:126675008|HP:0030072|NCIT:C7488		accessory sinus tumor|tumor of paranasal sinus|neoplasm of the accessory sinus|neoplasm of accessory sinus|paranasal sinus neoplasm (disease)|neoplasm of the paranasal sinus|neoplasm of accessory sinus|tumor of paranasal sinus|accessory sinus tumor|paranasal sinus neoplasm|tumor of the accessory sinus|accessory sinus neoplasm|paranasal sinus neoplasms|neoplasm of the paranasal sinus|neoplasm of paranasal sinus|tumor of accessory sinus|paranasal sinus tumor|tumor of accessory sinus|accessory sinus neoplasm|neoplasm of paranasal sinus|tumor of the paranasal sinus|paranasal sinus tumor|neoplasm of the accessory sinus|paranasal sinus neoplasms|paranasal sinus neoplasm	http://purl.obolibrary.org/obo/MONDO_0005289	A benign or malignant neoplasm that affects the paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.	UMLS:C0030470|SNOMEDCT:126675008|NCIT:C7488|DOID:1350
MONDO:0005284	chronic progressive multiple sclerosis	biolink:Disease	mondo	EFO:0003840|SCTID:230373008|UMLS:C0393665|MESH:D020528			http://purl.obolibrary.org/obo/MONDO_0005284	A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)	SNOMEDCT:230373008|UMLS:C0393665|MESH:D020528
MONDO:0005283	retinal disease	biolink:Disease	mondo	DOID:5679|ICD9:362.9|ICD10:H35.9|COHD:376103|DC:0000592|NCIT:C62601|EFO:0003839|SCTID:29555009|MESH:D012164|ICD9:362.89|UMLS:C0035309|HGNC:8002		eye disease of retina|retinopathy|retina eye disease	http://purl.obolibrary.org/obo/MONDO_0005283	Any disease or disorder of the retina.	DOID:5679|MESH:D012164|SNOMEDCT:29555009|NCIT:C62601|UMLS:C0035309
MONDO:0005286	palatal neoplasm	biolink:Disease	mondo	SCTID:126805009|UMLS:C0030215|EFO:0003849|NCIT:C4402|MESH:D010157		neoplasm of palate|neoplasm of the palate|secondary palate neoplasm (disease)|tumor of secondary palate|palate tumor|palate neoplasm|tumor of palate|neoplasm of secondary palate|tumor of the palate|secondary palate neoplasm|secondary palate tumor	http://purl.obolibrary.org/obo/MONDO_0005286	A benign or malignant neoplasm that affects the hard palate, soft palate, or uvula.	MESH:D010157|NCIT:C4402|SNOMEDCT:126805009|UMLS:C0030215
MONDO:0005285	obsolete kidney stone	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005285		
MONDO:0005280	prostatitis (disease)	biolink:Disease	mondo	ICD9:601.9|SCTID:9713002|MESH:D011472|ICD10:N41|UMLS:C0033581|DOID:14654|HP:0000024|ICD10:N41.9|COHD:194997|NCIT:C26866|ICD9:601.4|EFO:0003830|ICD9:601|ICD9:601.8		prostatitis|inflammation of prostate gland|prostate gland inflammation	http://purl.obolibrary.org/obo/MONDO_0005280	An infectious or non-infectious inflammatory process affecting the prostate gland.	DOID:14654|MESH:D011472|SNOMEDCT:9713002|NCIT:C26866|UMLS:C0033581
MONDO:0005282	cutaneous lupus erythematosus	biolink:Disease	mondo	GARD:0006225|DOID:0050169|SCTID:7119001|UMLS:C0024137|NCIT:C26819|MESH:D008178|EFO:0003834	gard_rare	lupus erythematosus, cutaneous	http://purl.obolibrary.org/obo/MONDO_0005282	An autoimmune disorder that manifests as different lupus-specific skin disorders; it can occur with systemic lupus erythematosus, or as a singular disease.	UMLS:C0024137|SNOMEDCT:7119001|NCIT:C26819|DOID:0050169|MESH:D008178
MONDO:0005281	gallbladder disease	biolink:Disease	mondo	ICD10:K82|ICD9:575.8|SCTID:39621005|ICD9:575.9|MESH:D005705|OMIMPS:600803|NCIT:C34631|UMLS:C0016977|EFO:0003832|DOID:0060262|ICD10:K82.9		disease or disorder of gall bladder|disorder of gall bladder|gallbladder disorder|gall bladder disease|gall bladder disease or disorder|Gall bladder disorder|disorder of gall bladder|disease of gall bladder	http://purl.obolibrary.org/obo/MONDO_0005281	A disease involving the gall bladder.	NCIT:C34631|DOID:0060262|SNOMEDCT:39621005|MESH:D005705|UMLS:C0016977
MONDO:0044889	high grade B-cell lymphoma	biolink:Disease	mondo	NCIT:C138211|SCTID:277617004|UMLS:C0456863		HGBL|high-grade B-cell lymphoma|high grade B-cell lymphoma	http://purl.obolibrary.org/obo/MONDO_0044889	A term that refers to high grade B-cell lymphoma, not otherwise specified or high grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements.	NCIT:C138211|UMLS:C0456863|SNOMEDCT:277617004
MONDO:0017277	partial deletion of chromosome 12	biolink:Disease	mondo	ICD10:Q93.5|Orphanet:282124	ordo_group_of_disorders	partial deletion of chromosome type 12|partial monosomy of chromosome 12	http://purl.obolibrary.org/obo/MONDO_0017277		ORPHA:282124
MONDO:0017278	autoimmune polyendocrinopathy	biolink:Disease	mondo	SCTID:41864002|DOID:14040|Orphanet:282196|ICD9:258.8|NCIT:C84576|ICD10:E31.0|UMLS:C4316913|NCIT:C129726|UMLS:C0085409	ordo_group_of_disorders	autoimmune polyglandular syndrome(s)|APS|autoimmune polyendocrine syndrome; polyglandular autoimmune syndrome|autoimmune polyglandular syndrome|autoimmune polyendocrine syndrome|Lloyd's syndrome|autoimmune polyendocrinopathy syndrome|autoimmune polyendocrinopathy|autoimmune polyglandular failure	http://purl.obolibrary.org/obo/MONDO_0017278	A group of diverse conditions that are characterized by spontaneous, multi-organ autoimmunity, which target both endocrine (adrenal, gonad, pancreatic islet cells, parathyroid, pituitary, thyroid) and non-endocrine (gastrointestinal, integumentary, lymphatic) tissues.	DOID:14040|NCIT:C129726|ORPHA:282196|UMLS:C4316913|NCIT:C84576|SNOMEDCT:41864002|UMLS:C0085409
MONDO:0017279	young-onset Parkinson disease	biolink:Disease	mondo	DOID:0060894|SCTID:715345007|ICD10:G20|Orphanet:2828	ordo_disease	YOPD|early-onset Parkinson's disease|early-onset Parkinson disease	http://purl.obolibrary.org/obo/MONDO_0017279	Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms.	ORPHA:2828|SNOMEDCT:715345007|DOID:0060894
MONDO:0017273	autosomal ichthyosis syndrome with fatal disease course	biolink:Disease	mondo	UMLS:CN202794|Orphanet:281241	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017273		ORPHA:281241|UMLS:CN202794
MONDO:0017274	autosomal ichthyosis syndrome with other associated signs	biolink:Disease	mondo	UMLS:CN202795|Orphanet:281244	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017274		ORPHA:281244|UMLS:CN202795
MONDO:0017275	spastic paraplegia-facial-cutaneous lesions syndrome	biolink:Disease	mondo	GARD:0000806|MESH:C537797|Orphanet:2819|UMLS:C2931617|SCTID:763403007	ordo_malformation_syndrome	Bahemuka-Brown syndrome|spastic paraplegia facial cutaneous lesions|Bahemuka Brown syndrome	http://purl.obolibrary.org/obo/MONDO_0017275	Spastic paraplegia-facial-cutaneous lesions syndrome is a complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982.	ORPHA:2819|MESH:C537797|UMLS:C2931617|SNOMEDCT:763403007
MONDO:0017276	frontotemporal dementia	biolink:Disease	mondo	UMLS:C0338451|COHD:4043378|GARD:0008436|Orphanet:282|MESH:D057180|MedDRA:10068968|UMLS:C0520716|DOID:9255|ICD10:G31.0|NCIT:C84719	ordo_group_of_disorders	frontotemporal lobe dementia (FLDEM)|Wilhemsen-Lynch disease|MSTD|multiple system tauopathy with presenile dementia|FTD|frontotemporal lobar degeneration|pallidopontonigral degeneration	http://purl.obolibrary.org/obo/MONDO_0017276	Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy.	ORPHA:282|UMLS:C0338451|DOID:9255|NCIT:C84719|MESH:D057180|UMLS:C0520716|MEDDRA:10068968
MONDO:0017260	systemic diseases with posterior uveitis	biolink:Disease	mondo	Orphanet:280930|UMLS:CN202778	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017260		ORPHA:280930|UMLS:CN202778
MONDO:0017261	systemic diseases with panuveitis	biolink:Disease	mondo	Orphanet:280933|UMLS:CN202779	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017261		ORPHA:280933|UMLS:CN202779
MONDO:0005299	brain ischemia	biolink:Disease	mondo	NCIT:C78394|EFO:0003883|ICD9:348.89|SCTID:389100007|UMLS:C0007786|DOID:2316|MESH:D002545		ischemic disease of brain|cerebrovascular ischemia|brain ischemia|brain ischemic disease|ischemia cerebrovascular|ischemic encephalopathy|ischaemic encephalopathy	http://purl.obolibrary.org/obo/MONDO_0005299	Diminished or absent blood supply to the brain caused by obstruction (thrombosis or embolism) of an artery resulting in neurologic damage.	DOID:2316|UMLS:C0007786|SNOMEDCT:389100007|NCIT:C78394|MESH:D002545
MONDO:0005298	osteoporosis	biolink:Disease	mondo	OMIM:166710|ICD10:M81|MESH:D010024|ICD9:733.0|EFO:0003882|DOID:11476|ICD10:M81.0|ICD9:733.00|COHD:80502|SCTID:64859006|ICD9:733.09|GARD:0011932|NCIT:C3298		osteoporosis, involutional|fracture, hip, susceptibility to	http://purl.obolibrary.org/obo/MONDO_0005298	A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss).	http://identifiers.org/omim/166710|MESH:D010024|DOID:11476|SNOMEDCT:64859006|NCIT:C3298
MONDO:0005295	intermittent vascular claudication	biolink:Disease	mondo	MESH:D007383|DOID:3669|ICD10:I73.9|ICD9:440.21|UMLS:C0021775|EFO:0003876|SCTID:63491006		Charcot's syndrome|intermittent claudication|intermittent claudication NOS	http://purl.obolibrary.org/obo/MONDO_0005295	A symptom complex characterized by pain and weakness in skeletal muscle group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial stenosis; muscle ischemia; and accumulation of lactate.	SNOMEDCT:63491006|MESH:D007383|DOID:3669|UMLS:C0021775
MONDO:0005294	peripheral vascular disease	biolink:Disease	mondo	MESH:D016491|DOID:341|COHD:321052|ICD9:443.81|NCIT:C35136|EFO:0003875		vascular disease, peripheral|arterial occlusive disease|peripheral vascular disorder|disease, peripheral vascular	http://purl.obolibrary.org/obo/MONDO_0005294	Any disorder affecting blood flow through the veins or arteries outside of the heart.	MESH:D016491|NCIT:C35136|DOID:341
MONDO:0005297	urethritis (disease)	biolink:Disease	mondo	ICD9:099.40|ICD10:N34.2|ICD9:597.80|HP:0500006|DOID:1343|NCIT:C26904|EFO:0003878|SCTID:84619001|COHD:195862|MESH:D014526		urethritis|Nongonococcal urethritis|non-gonococcal urethritis|inflammation of urethra|urethra inflammation	http://purl.obolibrary.org/obo/MONDO_0005297	Inflammation of the urethra.	SNOMEDCT:84619001|DOID:1343|NCIT:C26904|MESH:D014526
MONDO:0005296	sleep apnea syndrome	biolink:Disease	mondo	HP:0010535|NCIT:C148023|SCTID:73430006|DOID:0050847|ICD9:780.57|MESH:D012891|ICD10:G47.3|EFO:0003877|SCTID:111489007		mixed central and obstructive sleep apnea|hypopnea, sleep|SDB|apnea, sleep|sleep-disordered breathing|breathing-related sleep disorder|mixed sleep Apneas|apnea syndromes, sleep|sleep Apneas, mixed|sleep apnea, mixed|sleep apnea syndrome|sleep hypopnea|sleep apnea|hypersomnia with periodic respiration|sleep apnea, mixed central and obstructive|sleep Apneas|sleep hypopneas|mixed sleep apnea|apnea syndrome, sleep|Apneas, sleep|breathing, sleep-disordered|hypopneas, sleep|sleep disordered breathing	http://purl.obolibrary.org/obo/MONDO_0005296	A disorder characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep.	DOID:0050847|MESH:D012891|SNOMEDCT:111489007|NCIT:C26884|NCIT:C148023|SNOMEDCT:73430006
MONDO:0005291	brain aneurysm	biolink:Disease	mondo	MESH:D002532|UMLS:C0007766|EFO:0003870|DOID:10941		intracranial aneurysm|brain aneurysm	http://purl.obolibrary.org/obo/MONDO_0005291	A congenital or acquired aneurysm within the cranium.	NCIT:C27208|UMLS:C0007766|DOID:10941|MESH:D002532|NCIT:C34458
UBERON:5006052	digit 5 plus metapodial segment	biolink:AnatomicalEntity	mondo			digit 5|digit V plus metapodial segment|digit 5 digitopodial subdivision|digit 5 ray|digit 5 ( phalanges plus metapodial) plus soft tissue	http://purl.obolibrary.org/obo/UBERON_5006052	A subdivision of the autopod consisting of digit 5 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis.	
MONDO:0005290	rhabdomyolysis (disease)	biolink:Disease	mondo	SCTID:240131006|ICD9:728.88|HP:0003201|EFO:0003867|MESH:D012206|NCIT:C118318|COHD:4345578		rhabdomyolysis	http://purl.obolibrary.org/obo/MONDO_0005290	A clinical syndrome resulting from direct or indirect muscle injury and subsequent release of myoglobin into the plasma.	NCIT:C118318|SNOMEDCT:240131006|MESH:D012206
MONDO:0005293	flatfoot	biolink:Disease	mondo	SCTID:53226007|ICD9:734|MESH:D005413|NCIT:C34616|EFO:0003874		flat Foot|fallen Arch	http://purl.obolibrary.org/obo/MONDO_0005293	An anatomic deformity in which the arch of the foot collapses, resulting in the entire sole of the foot coming into complete or near-complete contact with the ground.	SNOMEDCT:53226007|MESH:D005413|NCIT:C34616
MONDO:0005292	colitis (disease)	biolink:Disease	mondo	ICD10:K52.9|DOID:0060180|EFO:0003872|MESH:D003092|HP:0002583|UMLS:C0009319|NCIT:C26723|ICD9:558.9|SCTID:64226004		colitis|inflammation of colon|colon inflammation	http://purl.obolibrary.org/obo/MONDO_0005292	Inflammation of the colon.	DOID:0060180|MESH:D003092|NCIT:C26723|SNOMEDCT:64226004|UMLS:C0009319
MONDO:0017266	keratinopathic ichthyosis	biolink:Disease	mondo	SCTID:724837004|UMLS:C4511307|Orphanet:281103	ordo_group_of_disorders	KPI	http://purl.obolibrary.org/obo/MONDO_0017266		ORPHA:281103|UMLS:C4511307|SNOMEDCT:724837004
MONDO:0017267	self-healing collodion baby	biolink:Disease	mondo	Orphanet:281122|SCTID:718632004|ICD10:Q80.2|UMLS:C1855789	ordo_disease	SICI|self-improving collodion baby|self-improving congenital ichthyosis|SHCB	http://purl.obolibrary.org/obo/MONDO_0017267	Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.	UMLS:C1855789|ORPHA:281122|SNOMEDCT:718632004
GO:0032388	positive regulation of intracellular transport	biolink:OntologyClass	mondo			up regulation of intracellular transport|activation of intracellular transport|stimulation of intracellular transport|upregulation of intracellular transport|up-regulation of intracellular transport	http://purl.obolibrary.org/obo/GO_0032388	Any process that activates or increases the frequency, rate or extent of the directed movement of substances within cells.	
MONDO:0017268	acral self-healing collodion baby	biolink:Disease	mondo	SCTID:718633009|Orphanet:281127|ICD10:Q80.2	ordo_disease	acral SHCB	http://purl.obolibrary.org/obo/MONDO_0017268	Acral self-healing collodion baby (SHCB) is a variant of SHCB characterized by the presence at birth of a collodion membrane only at the extremities.	ORPHA:281127|SNOMEDCT:718633009
ECTO:0000001	exposure to radiation	biolink:OntologyClass	mondo			radiation exposure	http://purl.obolibrary.org/obo/ECTO_0000001	A exposure event involving the interaction of an exposure receptor to radiation.	
MONDO:0017269	X-linked ichthyosis syndrome	biolink:Disease	mondo	Orphanet:281210|MedDRA:10048063	ordo_group_of_disorders	X-linked inherited ichthyosis syndromic form|inherited ichthyosis syndromic form, X-linked	http://purl.obolibrary.org/obo/MONDO_0017269	X-linked form of inherited ichthyosis syndromic form.	MEDDRA:10048063|UMLS:C0079588|ORPHA:281210
GO:0032387	negative regulation of intracellular transport	biolink:OntologyClass	mondo			down-regulation of intracellular transport|down regulation of intracellular transport|downregulation of intracellular transport|inhibition of intracellular transport	http://purl.obolibrary.org/obo/GO_0032387	Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of substances within cells.	
MONDO:0017262	inherited non-syndromic ichthyosis	biolink:Disease	mondo	Orphanet:281082	ordo_group_of_disorders	isolated inherited ichthyosis|nonsyndromic inherited ichthyosis	http://purl.obolibrary.org/obo/MONDO_0017262	A inherited ichthyosis that is not part of a larger syndrome.	ORPHA:281082
GO:0032386	regulation of intracellular transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0032386	Any process that modulates the frequency, rate or extent of the directed movement of substances within cells.	
MONDO:0017263	inherited ichthyosis syndromic form	biolink:Disease	mondo	Orphanet:281085	ordo_group_of_disorders	syndrome associated with inherited ichthyosis|syndromic inherited ichthyosis|syndrome associated with inherited ichthyosis	http://purl.obolibrary.org/obo/MONDO_0017263	A inherited ichthyosis that is part of a larger syndrome.	ORPHA:281085
ECTO:0000002	exposure to electromagnetic radiation	biolink:OntologyClass	mondo			electromagnetic radiation exposure	http://purl.obolibrary.org/obo/ECTO_0000002	A exposure event involving the interaction of an exposure receptor to electromagnetic radiation.	
MONDO:0017264	syndromic recessive X-linked ichthyosis	biolink:Disease	mondo	UMLS:CN202782|Orphanet:281090|SCTID:717041008|ICD10:Q80.1|UMLS:C4274085	ordo_disease	syndromic X-linked ichthyosis|syndromic RXLI|syndrome associated with recessive X-linked ichthyosis|syndromic recessive X-linked ichthyosis|recessive X-linked ichthyosis with extracutaneous manifestations|syndrome associated with recessive X-linked ichthyosis	http://purl.obolibrary.org/obo/MONDO_0017264	Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI that are associated with extracutaneous manifestations as part of a syndrome.	UMLS:CN202782|ORPHA:281090|SNOMEDCT:717041008|UMLS:C4274085
MONDO:0017265	autosomal recessive congenital ichthyosis	biolink:Disease	mondo	DOID:0060655|OMIMPS:242300|Orphanet:281097	ordo_group_of_disorders	ARCI|autosomal recessive inherited ichthyosis|inherited ichthyosis, autosomal recessive|ichthyosis, congenital, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0017265	Autosomal recessive form of inherited ichthyosis.	ORPHA:281097|DOID:0060655
MONDO:0017250	congenital pulmonary airway malformation type 2	biolink:Disease	mondo	ICD10:Q33.0|Orphanet:280840	ordo_clinical_subtype	congenital cystic disease of the lung type 2|congenital cystic adenomatous malformation of the lung type 2|congenital cystic adenomatoid malformation of the lung type 2|CPAM type 2|CCAM type 2	http://purl.obolibrary.org/obo/MONDO_0017250		ORPHA:280840
MONDO:0005269	carotid artery disease	biolink:Disease	mondo	DOID:3407|UMLS:C0007273|NCIT:C84476|ICD9:447.9|SCTID:371160000|EFO:0003781|MESH:D002340		disorder of carotid artery|carotid artery segment disease or disorder|carotid artery disorder|disorder of carotid artery segment|disease of carotid artery segment|disorder of carotid artery segment|disease or disorder of carotid artery segment|carotid artery segment disease	http://purl.obolibrary.org/obo/MONDO_0005269	A disease involving the carotid artery segment.	SNOMEDCT:371160000|MESH:D002340|UMLS:C0007273|DOID:3407|NCIT:C84476
HGNC:697	ARL6IP1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/697		
MONDO:0005266	diabetic retinopathy	biolink:Disease	mondo	ICD10:H36.0|UMLS:C0011884|MESH:D003930|DOID:8947|ICD9:362.0|SCTID:4855003|EFO:0003770|NCIT:C34538|COHD:4174977		retinal abnormality - diabetes-related	http://purl.obolibrary.org/obo/MONDO_0005266	A chronic, pathological complication associated with diabetes mellitus, where retinal damages are incurred due to microaneurysms in the vasculature of the retina, progressively leading to abnormal blood vessel growth, and swelling and leaking of fluid from blood vessels, resulting in vision loss or blindness.	DOID:8947|MESH:D003930|NCIT:C34538|UMLS:C0011884|SNOMEDCT:4855003
NCBITaxon:213849	Campylobacterales	organism taxon	mondo	GC_ID:11|PMID:16403855			http://purl.obolibrary.org/obo/NCBITaxon_213849		
NCBITaxon:10911	Coltivirus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_10911		
MONDO:0005265	inflammatory bowel disease	biolink:Disease	mondo	ICD9:558.9|UMLS:C0021390|NCIT:C3138|KEGG:05321|SCTID:24526004|OMIMPS:266600|EFO:0003767|DOID:0050589|MESH:D015212		autoimmune bowel disorder|IBD|inflammatory bowel disease	http://purl.obolibrary.org/obo/MONDO_0005265	A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type.	SNOMEDCT:24526004|DOID:0050589|UMLS:C0021390|NCIT:C3138|MESH:D015212
NCBITaxon:10912	Rotavirus	organism taxon	mondo	GC_ID:1		Rotaviruses	http://purl.obolibrary.org/obo/NCBITaxon_10912		
MONDO:0005268	obsolete Hashimoto's thyroiditis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005268		
MONDO:0005267	heart disease	biolink:Disease	mondo	SCTID:56265001|EFO:0003777|ICD9:429.9|NCIT:C3079|ICD10:I51.9|DOID:114|UMLS:C0018799|COHD:321588|UMLS:CN239852|UMLS:CN236661|ICD9:V47.2|MESH:D006331|ICD9:429.89		disorder of heart/pericardium|heart disorder|disease or disorder of heart|heart disease|heart/pericardial disorder|disease of heart|heart disease or disorder|heart/pericardial disease|disorder of heart|heart/pericardial disease or disorder|cardiac disease|heart/pericardial trouble|heart trouble	http://purl.obolibrary.org/obo/MONDO_0005267	A disease involving the heart and/or pericardium.	SNOMEDCT:56265001|DOID:114|UMLS:CN239852|UMLS:CN236661|MESH:D006331|UMLS:C0018799|NCIT:C3079
HGNC:691	PHOX2A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/691		
MONDO:0005262	central nervous system cyst (disease)	biolink:Disease	mondo	HP:0030724|NCIT:C4657|EFO:0003760|MESH:D020863|SCTID:277333006|UMLS:C0349606		cyst, suprasellar|CNS cyst|cleft cysts, Rathke's|Rathke cleft cysts|cysts, suprasellar|Rathke's cleft cysts|cyst of the CNS|cyst of CNS|cyst of Central nervous system|cyst of the Central nervous system|Rathkes cleft cysts|suprasellar cysts|central nervous system cyst|cysts, central nervous system|cysts, Rathke cleft|suprasellar cyst	http://purl.obolibrary.org/obo/MONDO_0005262	A congenital or acquired cyst that is present in the central nervous system.	SNOMEDCT:277333006|UMLS:C0349606|NCIT:C4657|MESH:D020863
MONDO:0005261	pervasive developmental disorder - not otherwise specified	biolink:Disease	mondo	EFO:0003759|DOID:0060042		atypical autism|PDD	http://purl.obolibrary.org/obo/MONDO_0005261	An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism.	DOID:0060042
MONDO:0005264	transient ischemic attack (disease)	biolink:Disease	mondo	ICD10:G45.9|NCIT:C50781|MESH:D002546|DOID:224|EFO:0003764|HP:0002326|SCTID:266257000|ICD9:435|ICD9:435.9|ICD9:435.8		ischemic attack, transient|transient cerebral ischaemia NOS|TIA - transient ischaemic attack|transient ischemic attack|TIA|transient cerebral ischaemia|attack, transient ischemic|transient ischemic attacks|transient cerebral ischemia|transient cerebral ischemia (disorder) [ambiguous]	http://purl.obolibrary.org/obo/MONDO_0005264	A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit.	MESH:D002546|DOID:224|NCIT:C50781|SNOMEDCT:266257000
MONDO:0005263	unipolar depression	biolink:Disease	mondo	EFO:0003761|NCIT:C35094		major depressive disorder|major depression	http://purl.obolibrary.org/obo/MONDO_0005263	A mood disorder having a clinical course involving one or more episodes of serious psychological depression that last two or more weeks each, do not have intervening episodes of mania or hypomania, and are characterized by a loss of interest or pleasure in almost all activities and by some or all of disturbances of appetite, sleep, or psychomotor functioning, a decrease in energy, difficulties in thinking or making decisions, loss of self-esteem or feelings of guilt, and suicidal thoughts or attempts.	NCIT:C35094
GO:0046907	intracellular transport	biolink:OntologyClass	mondo			single organism intracellular transport|single-organism intracellular transport	http://purl.obolibrary.org/obo/GO_0046907	The directed movement of substances within a cell.	
GO:0032370	positive regulation of lipid transport	biolink:OntologyClass	mondo			up-regulation of lipid transport|up regulation of lipid transport|activation of lipid transport|stimulation of lipid transport|upregulation of lipid transport	http://purl.obolibrary.org/obo/GO_0032370	Any process that activates or increases the frequency, rate or extent of the directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
MONDO:0005260	autism (disease)	biolink:Disease	mondo	DOID:12849|EFO:0003758|ICD10:F84.0|OMIMPS:209850|MESH:D001321|NCIT:C97161|ICD9:299.0|HP:0000717		infantile autism|autistic disorder of childhood onset|autism spectrum disorder|autism|autism, susceptiblity to|autistic disorder|Kanner's syndrome|childhood autism	http://purl.obolibrary.org/obo/MONDO_0005260	A disorder characterized by marked impairments in social interaction and communication accompanied by a pattern of repetitive, stereotyped behaviors and activities. Developmental delays in social interaction and language surface prior to age 3 years.	MESH:D001321|NCIT:C97161|DOID:12849
MONDO:0017259	systemic diseases with anterior uveitis	biolink:Disease	mondo	UMLS:CN202777|Orphanet:280926	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017259		ORPHA:280926|UMLS:CN202777
GO:0046903	secretion	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0046903	The controlled release of a substance by a cell or a tissue.	
MONDO:0017255	panuveitis (disease)	biolink:Disease	mondo	COHD:439014|ICD10:H44.11|MedDRA:10033687|DOID:12030|MESH:D015864|NCIT:C84989|ICD9:360.12|SCTID:75614007|ICD10:H44.1|Orphanet:280898|GARD:0008577|EFO:1001082|HP:0012121	ordo_group_of_disorders	panuveitis|diffuse uveitis|total uveitis	http://purl.obolibrary.org/obo/MONDO_0017255	A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and choroid. Causes include systemic infections, sarcoidosis, and cancers.	MESH:D015864|UMLS:C0030343|DOID:12030|MEDDRA:10033687|SNOMEDCT:75614007|ORPHA:280898|NCIT:C84989
MONDO:0017256	idiopathic anterior uveitis	biolink:Disease	mondo	UMLS:C0339315|ICD10:H20.9|ICD10:H20.8|Orphanet:280914|ICD10:H20.2|ICD10:H20.1|ICD10:H20.0|SCTID:231947004	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017256		UMLS:C0339315|SNOMEDCT:231947004|ORPHA:280914
MONDO:0017257	idiopathic posterior uveitis	biolink:Disease	mondo	Orphanet:280917|ICD10:H20.0	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017257	Idiopathic posterior uveitis is a rare, potentially sight-threatening, ocular disease, not attributed to any specific ocular or systemic cause, characterized by focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (i.e. choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular edema and choroidal neovascularization) has been reported.	ORPHA:280917
UBERON:5006048	digit 1 plus metapodial segment	biolink:AnatomicalEntity	mondo			digit 1 ray|digit 1 ( phalanges plus metapodial) plus soft tissue|digit 1|digit I plus metapodial segment|digit 1 digitopodial subdivision	http://purl.obolibrary.org/obo/UBERON_5006048	A subdivision of the autopod consisting of digit 1 plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis.	
MONDO:0017258	idiopathic panuveitis	biolink:Disease	mondo	SCTID:766933000|Orphanet:280921|ICD10:H44.1	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017258	Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss.	SNOMEDCT:766933000|ORPHA:280921
MONDO:0017251	congenital pulmonary airway malformation type 3	biolink:Disease	mondo	Orphanet:280847|ICD10:Q33.0	ordo_clinical_subtype	congenital cystic adenomatoid malformation of the lung type 3|CPAM type 3|CCAM type 3|congenital cystic disease of the lung type 3|congenital cystic adenomatous malformation of the lung type 3	http://purl.obolibrary.org/obo/MONDO_0017251		ORPHA:280847
MONDO:0017252	congenital pulmonary airway malformation type 4	biolink:Disease	mondo	ICD10:Q33.0|Orphanet:280854	ordo_clinical_subtype	congenital cystic adenomatous malformation of the lung type 4|congenital cystic adenomatoid malformation of the lung type 4|CPAM type 4	http://purl.obolibrary.org/obo/MONDO_0017252		ORPHA:280854
GO:0019395	fatty acid oxidation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0019395	The removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen.	
MONDO:0017253	obsolete anterior uveitis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0017253		
MONDO:0017254	obsolete posterior uveitis (disease)	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0017254		
GO:0032369	negative regulation of lipid transport	biolink:OntologyClass	mondo			down-regulation of lipid transport|down regulation of lipid transport|inhibition of lipid transport|downregulation of lipid transport	http://purl.obolibrary.org/obo/GO_0032369	Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
MONDO:0005277	migraine disorder	biolink:Disease	mondo	ICD10:G43.9|ICD9:346|EFO:0003821|DOID:6364|OMIMPS:157300|ICD10:G43.909|NCIT:C89715|MESH:D008881|ICD9:346.9|ICD10:G43		migraine variant|migraine disorder|migraine with or without aura|migraine headache|migraine	http://purl.obolibrary.org/obo/MONDO_0005277	A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity.	DOID:6364|NCIT:C89715|MESH:D008881|NCIT:C113482
HP:0031694	Severe adenovirus infection	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0031694	An unusually severe adenovirus infection.	
MONDO:0005276	dental caries	biolink:Disease	mondo	ICD10:K02.6|COHD:133228|ICD9:521.0|EFO:0003819|DOID:216|ICD9:521.07|ICD9:521.06|ICD10:K02|UMLS:C0011334|SCTID:80967001|ICD9:521.00|MESH:D003731|ICD10:K02.9		dental caries of smooth surface|dental caries extending into pulp|dental caries pit and fissure	http://purl.obolibrary.org/obo/MONDO_0005276	The decay of a tooth, in which it becomes softened, discolored, and/or porous.	NCIT:C52593|DOID:216|UMLS:C0011334|SNOMEDCT:80967001|MESH:D003731
MONDO:0005279	pulmonary embolism (disease)	biolink:Disease	mondo	ICD10:I26.99|SCTID:59282003|NCIT:C50713|ICD9:415.19|UMLS:C0034065|ICD10:I26|HP:0002204|MESH:D011655|EFO:0003827|DOID:9477|COHD:440417		pulmonary embolism|embolism, pulmonary|pulmonary artery embolism|pulmonary embolus	http://purl.obolibrary.org/obo/MONDO_0005279	The obstruction of the pulmonary artery or one of its branches by an embolus, sometimes associated with infarction of the lung.	SNOMEDCT:59282003|NCIT:C50713|MESH:D011655|UMLS:C0034065|DOID:9477
MONDO:0005278	serous adenocarcinoma	biolink:Disease	mondo	NCIT:C40101|DOID:3114|UMLS:C0206701|EFO:0003825		serous cystadenocarcinoma, NOS (morphologic abnormality)|serous carcinoma|serous adenocarcinoma|serous cystadenocarcinoma	http://purl.obolibrary.org/obo/MONDO_0005278	An adenocarcinoma that is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies may be present. Representative examples include cervical serous adenocarcinoma, endometrial serous adenocarcinoma, ovarian serous adenocarcinoma, and primary peritoneal serous adenocarcinoma.	DOID:3114|UMLS:C0206701|NCIT:C40101
HP:0031690	Opportunistic infection	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0031690	An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system.	
MONDO:0005273	obsolete refractory anemia with excess blasts	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005273		
MONDO:0005272	refractory anemia	biolink:Disease	mondo	MedDRA:10038269|NCIT:C2872|ICD10:D46.7|SCTID:109996008|ICDO:9980/3|MESH:D000753|ICD9:238.72|UMLS:C0002893|EFO:0003802|Orphanet:98826	ordo_disease	aregenerative anemia|RA	http://purl.obolibrary.org/obo/MONDO_0005272	A myelodysplastic syndrome characterized mainly by dysplasia of the erythroid series. Refractory anemia is uncommon. It is primarily a disease of older adults. The median survival exceeds 5 years. (WHO, 2001)	NCIT:C2872|UMLS:C0002893|MESH:D000753|ORPHA:98826|SNOMEDCT:109996008|MEDDRA:10038269
HP:0031691	Severe viral infection	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0031691	An unusually severe viral infection.	
MONDO:0005275	lung disease	biolink:Disease	mondo	ICD10:J98.4|NCIT:C3198|SCTID:19829001|MESH:D008171|EFO:0003818|ICD9:518.89|DOID:850		pulmonary disorders|lung disease|lung disorders|pulmonary diseases|lung disease or disorder|pulmonary disease|lung disorder|pulmonary disorder|disorder of lung|disease of lung|disease or disorder of lung|disorder of lung	http://purl.obolibrary.org/obo/MONDO_0005275	A disease involving the lung.	MESH:D008171|DOID:850|SNOMEDCT:19829001|NCIT:C3198
MONDO:0005274		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005274		
CHEBI:60531	flavin(1-)	biolink:ChemicalSubstance	mondo			an oxidized flavin	http://purl.obolibrary.org/obo/CHEBI_60531	Flavin protonated to pH 7.3	
MONDO:0005271	allergic disease	biolink:Disease	mondo	EFO:0003785|ICD10:T78.40|ICD9:995.3|SCTID:609328004|DOID:1205|UMLS:C1527304|NCIT:C114476|MESH:D006967|ICD9:V15.09		disorder of type I hypersensitivity|disorder of type I hypersensitivity|hypersensitivity reaction type I disease|allergic reaction|allergic hypersensitivity disease|allergy|allergic disease or disorder|type I hypersensitivity disease|allergic response|hypersensitivity|allergic form of disease or disorder|allergic form of immune system disease	http://purl.obolibrary.org/obo/MONDO_0005271	An immune response that occurs following re-exposure to an innocuous antigen, and that requires the presence of existing antibodies against that antigen. This response involves the binding of IgE to mast cells, and may worsen with repeated exposures.	NCIT:C114476|DOID:1205|MESH:D006967|SNOMEDCT:609328004|UMLS:C1527304
GO:0046916	cellular transition metal ion homeostasis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0046916	Any process involved in the maintenance of an internal steady state of transition metal ions at the level of a cell. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver.	
MONDO:0005270	obsolete motor neuron disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005270		
GO:0046915	transition metal ion transmembrane transporter activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0046915	Enables the transfer of transition metal ions from one side of a membrane to the other. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver.	
MONDO:0017248	congenital pulmonary airway malformation type 0	biolink:Disease	mondo	ICD10:Q33.0|Orphanet:280827	ordo_clinical_subtype	congenital cystic adenomatous malformation of the lung type 0|congenital cystic adenomatoid malformation of the lung type 0|CPAM type 0	http://purl.obolibrary.org/obo/MONDO_0017248		ORPHA:280827
MONDO:0017249	congenital pulmonary airway malformation type 1	biolink:Disease	mondo	ICD10:Q33.0|Orphanet:280832	ordo_clinical_subtype	congenital cystic adenomatous malformation of the lung type 1|congenital cystic adenomatoid malformation of the lung type 1|CPAM type 1|CCAM type 1|congenital cystic disease of the lung type 1	http://purl.obolibrary.org/obo/MONDO_0017249		ORPHA:280832
MONDO:0017244	pseudoxanthomatous diffuse cutaneous mastocytosis	biolink:Disease	mondo	Orphanet:280794|ICD10:Q82.2	ordo_clinical_subtype	Pseudoxanthomatous DCM|infiltrative small vesicular DCM|infiltrative small vesicular diffuse cutaneous mastocytosis	http://purl.obolibrary.org/obo/MONDO_0017244	Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering.	ORPHA:280794
GO:0032368	regulation of lipid transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0032368	Any process that modulates the frequency, rate or extent of the directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
MONDO:0017245	intralobar congenital pulmonary sequestration	biolink:Disease	mondo	ICD10:Q33.2|Orphanet:280802	ordo_clinical_subtype	congenital intrapulmonary sequestration|intralobar congenital bronchopulmonary sequestration	http://purl.obolibrary.org/obo/MONDO_0017245		ORPHA:280802
MONDO:0017246	extralobar congenital pulmonary sequestration	biolink:Disease	mondo	ICD10:Q33.2|Orphanet:280811	ordo_clinical_subtype	congenital extrapulmonary sequestration|extralobar congenital bronchopulmonary sequestration	http://purl.obolibrary.org/obo/MONDO_0017246		ORPHA:280811
HP:0006685	Endocardial fibrosis	biolink:PhenotypicFeature	mondo	MSH:D004719|UMLS:C0553980|SNOMEDCT_US:398716006		Endomyocardial fibrosis	http://purl.obolibrary.org/obo/HP_0006685	The presence of excessive connective tissue in the endocardium.	
MONDO:0017247	communicating congenital bronchopulmonary-foregut malformation	biolink:Disease	mondo	ICD10:Q33.2|Orphanet:280821	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017247		ORPHA:280821
MONDO:0017240	acrodysostosis with multiple hormone resistance	biolink:Disease	mondo	Orphanet:280651|ICD10:Q75.4|UMLS:CN202748	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017240		UMLS:CN202748|ORPHA:280651
MONDO:0017241	severe intellectual disability and progressive spastic paraplegia	biolink:Disease	mondo	UMLS:CN202757|Orphanet:280763	ordo_disease	AP4 deficiency syndrome	http://purl.obolibrary.org/obo/MONDO_0017241		UMLS:CN202757|ORPHA:280763
MONDO:0017242	cutaneous collagenous vasculopathy	biolink:Disease	mondo	UMLS:C4305323|Orphanet:280779|SCTID:718634003|GARD:0012428	ordo_disease	CCV|cutaneus colagenous vasculopathy	http://purl.obolibrary.org/obo/MONDO_0017242	Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias.	UMLS:C4305323|SNOMEDCT:718634003|ORPHA:280779
MONDO:0017243	bullous diffuse cutaneous mastocytosis	biolink:Disease	mondo	ICD10:Q82.2|Orphanet:280785	ordo_clinical_subtype	bullous DCM	http://purl.obolibrary.org/obo/MONDO_0017243	Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin.	ORPHA:280785
MONDO:0032869	mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6	biolink:Disease	mondo	DOID:0111749|OMIM:618683		MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6	http://purl.obolibrary.org/obo/MONDO_0032869		DOID:0111749|http://identifiers.org/omim/618683
HGNC:678	ARHGDIA	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/678		
MONDO:0032867	pancreatic cancer, susceptibility to, 5	biolink:Disease	mondo	OMIM:618680		PANCREATIC CANCER, SUSCEPTIBILITY TO, 5; PNCA5	http://purl.obolibrary.org/obo/MONDO_0032867		http://identifiers.org/omim/618680
MONDO:0032868	lessel-kubisch syndrome	biolink:Disease	mondo	OMIM:618681		LESSEL-KUBISCH SYNDROME; LSKB	http://purl.obolibrary.org/obo/MONDO_0032868		http://identifiers.org/omim/618681
MONDO:0032865	pulmonary fibrosis and/or bone marrow failure, telomere-related, 5	biolink:Disease	mondo	OMIM:618674		PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5; PFBMFT5	http://purl.obolibrary.org/obo/MONDO_0032865		http://identifiers.org/omim/618674
MONDO:0032866	cortical dysplasia, complex, with other brain malformations 10	biolink:Disease	mondo	OMIM:618677		CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10	http://purl.obolibrary.org/obo/MONDO_0032866		http://identifiers.org/omim/618677
PATO:0000963	opaque	biolink:OntologyClass	mondo			cloudy|clouding|non-transparent	http://purl.obolibrary.org/obo/PATO_0000963	A optical quality inhering in a bearer by virtue of the bearer's not being clear; not transmitting or reflecting light or radiant energy.	
GO:0007399	nervous system development	biolink:OntologyClass	mondo			pan-neural process	http://purl.obolibrary.org/obo/GO_0007399	The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.	
OIO:inSubset	in_subset	biolink:OntologyClass	mondo				http://www.geneontology.org/formats/oboInOwl#inSubset		
MONDO:0032874	ciliary dyskinesia, primary, 43	biolink:Disease	mondo	OMIM:618699		Ciliary Dyskinesia, Primary, 43, With or Without Situs Inversus|CILIARY DYSKINESIA, PRIMARY, 43; CILD43	http://purl.obolibrary.org/obo/MONDO_0032874		http://identifiers.org/omim/618699
MONDO:0032875	short stature and microcephaly with genital anomalies	biolink:Disease	mondo	OMIM:618702		SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA	http://purl.obolibrary.org/obo/MONDO_0032875		http://identifiers.org/omim/618702
MONDO:0032872	ciliary dyskinesia, primary, 42	biolink:Disease	mondo	OMIM:618695		Ciliary Dyskinesia, Primary, 42, Without Situs Inversus|CILIARY DYSKINESIA, PRIMARY, 42; CILD42	http://purl.obolibrary.org/obo/MONDO_0032872		http://identifiers.org/omim/618695
MONDO:0032873	retinitis pigmentosa 87 with choroidal involvement	biolink:Disease	mondo	OMIM:618697		RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87	http://purl.obolibrary.org/obo/MONDO_0032873		http://identifiers.org/omim/618697
MONDO:0032870	intellectual developmental disorder with short stature and behavioral abnormalities	biolink:Disease	mondo	OMIM:618687|DOID:0111674		INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA	http://purl.obolibrary.org/obo/MONDO_0032870		DOID:0111674|http://identifiers.org/omim/618687
GO:0032353	negative regulation of hormone biosynthetic process	biolink:OntologyClass	mondo			down regulation of hormone biosynthetic process|inhibition of hormone biosynthetic process|down-regulation of hormone biosynthetic process|downregulation of hormone biosynthetic process	http://purl.obolibrary.org/obo/GO_0032353	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of hormones.	
GO:0032352	positive regulation of hormone metabolic process	biolink:OntologyClass	mondo			stimulation of hormone metabolic process|upregulation of hormone metabolic process|up-regulation of hormone metabolic process|up regulation of hormone metabolic process|positive regulation of hormone metabolism|activation of hormone metabolic process	http://purl.obolibrary.org/obo/GO_0032352	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving any hormone.	
MONDO:0032871	leukodystrophy, hypomyelinating, 19, transient infantile	biolink:Disease	mondo	OMIM:618688		LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19	http://purl.obolibrary.org/obo/MONDO_0032871		http://identifiers.org/omim/618688
GO:0032351	negative regulation of hormone metabolic process	biolink:OntologyClass	mondo			down-regulation of hormone metabolic process|down regulation of hormone metabolic process|negative regulation of hormone metabolism|downregulation of hormone metabolic process|inhibition of hormone metabolic process	http://purl.obolibrary.org/obo/GO_0032351	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving any hormone.	
GO:0032350	regulation of hormone metabolic process	biolink:OntologyClass	mondo			regulation of hormone metabolism	http://purl.obolibrary.org/obo/GO_0032350	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving any hormone.	
NCBITaxon:46919	Whitewater Arroyo mammarenavirus	organism taxon	mondo	GC_ID:1		Whitewater Arroyo virus	http://purl.obolibrary.org/obo/NCBITaxon_46919		
MONDO:0032878	neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia	biolink:Disease	mondo	OMIM:618718		NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH	http://purl.obolibrary.org/obo/MONDO_0032878		http://identifiers.org/omim/618718
MONDO:0032879	megabladder, congenital	biolink:Disease	mondo	OMIM:618719		MEGABLADDER, CONGENITAL; MGBL	http://purl.obolibrary.org/obo/MONDO_0032879		http://identifiers.org/omim/618719
HGNC:685	ARHGEF6	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/685		
MONDO:0032876	neurodevelopmental disorder with absent language and variable seizures	biolink:Disease	mondo	OMIM:618707		Ito-Raymond Syndrome|NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS	http://purl.obolibrary.org/obo/MONDO_0032876		http://identifiers.org/omim/618707
MONDO:0032877	neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	biolink:Disease	mondo	OMIM:618709		NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS	http://purl.obolibrary.org/obo/MONDO_0032877		http://identifiers.org/omim/618709
GO:0046930	pore complex	biolink:OntologyClass	mondo			pore-forming toxin activity|channel-forming toxin activity|pore	http://purl.obolibrary.org/obo/GO_0046930	A protein complex providing a discrete opening in a membrane that allows the passage of gases and/or liquids.	
PATO:0000973	porosity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0000973	A structure quality inhering in a bearer by virtue of the bearer's disposition to admit the passage of gas or liquid through pores or interstices.	
GO:0046939	nucleotide phosphorylation	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0046939	The process of introducing one or more phosphate groups into a nucleotide to produce a phosphorylated nucleoside.	
PATO:0000970	permeability	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0000970	A structural quality inhering in a bearer by virtue of the bearer's disposition to being permeated or pervaded by a gas or liquid (as by osmosis or diffusion).	
MONDO:0032885	spondyloepimetaphyseal dysplasia, Isidor-Toutain type	biolink:Disease	mondo	OMIM:618728		SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST	http://purl.obolibrary.org/obo/MONDO_0032885		http://identifiers.org/omim/618728
MONDO:0032886	Liang-Wang syndrome	biolink:Disease	mondo	OMIM:618729		LIANG-WANG SYNDROME; LIWAS	http://purl.obolibrary.org/obo/MONDO_0032886		http://identifiers.org/omim/618729
MONDO:0032883	intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures	biolink:Disease	mondo	OMIM:618725		INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS	http://purl.obolibrary.org/obo/MONDO_0032883		http://identifiers.org/omim/618725
MONDO:0032884	ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies	biolink:Disease	mondo	OMIM:618727		ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB	http://purl.obolibrary.org/obo/MONDO_0032884		http://identifiers.org/omim/618727
MONDO:0032881	premature ovarian failure 16	biolink:Disease	mondo	OMIM:618723		PREMATURE OVARIAN FAILURE 16; POF16	http://purl.obolibrary.org/obo/MONDO_0032881		http://identifiers.org/omim/618723
MONDO:0032882	Heyn-Sproul-Jackson syndrome	biolink:Disease	mondo	OMIM:618724		Microcephaly, Short Stature, and Impaired Intellectual Development|HEYN-SPROUL-JACKSON SYNDROME; HESJAS	http://purl.obolibrary.org/obo/MONDO_0032882		http://identifiers.org/omim/618724
MONDO:0032880	developmental and epileptic encephalopathy, 82	biolink:Disease	mondo	OMIM:618721		epileptic encephalopathy, early infantile, 82|DEE82|Glutamate Oxaloacetate Transaminase, Mitochondrial, Deficiency of|Got2 Deficiency|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82; EIEE82	http://purl.obolibrary.org/obo/MONDO_0032880		http://identifiers.org/omim/618721
MONDO:0017291	reversible cerebral vasoconstriction syndrome	biolink:Disease	mondo	GARD:0012768|ICD10:I67.8|SCTID:700467001|Orphanet:284388|ICD9:437.8|UMLS:C3544214	gard_rare|ordo_clinical_syndrome	RCVS	http://purl.obolibrary.org/obo/MONDO_0017291	Reversible cerebral vasoconstriction syndrome (RCVS) is an infrequent cerebrovascular disorder characterized by severe headaches with or without focal neurological deficits or seizures, and a reversible segmental and multifocal vasoconstriction of cerebral arteries.	UMLS:C3544214|ORPHA:284388|SNOMEDCT:700467001
MONDO:0017292	well-differentiated fetal adenocarcinoma of the lung	biolink:Disease	mondo	ICD10:C34.8|UMLS:C1266047|UMLS:CN202865|ICDO:8333/3|UMLS:C1708045|ICD10:C34.3|ICD10:C34.2|NCIT:C45509|Orphanet:284395|ICD10:C34.1	ordo_disease	fetal adenocarcinoma|pulmonary adenocarcinoma of fetal type|well-differentiated fetal lung adenocarcinoma|fetal lung adenocarcinoma|pulmonary endodermal tumor resembling fetal lung|WDFA	http://purl.obolibrary.org/obo/MONDO_0017292	Well-differentiated fetal adenocarcinoma (WDFA) of the lung is a rare, primary, low-grade, bronchopulmonary neoplasm characterized by a well-circumscribed, usually large, pulmonary mass that is histologically composed of glycogen-rich neoplastic glands and tubules that resemble fetal lungs at 10 to 16 weeks of gestation and benign adjacent stroma. It typically presents with chest pain, cough, dyspnea, hemoptysis and/or generalized, non-specific symptoms, such as night sweats, lethargy, poor appetite and weight loss.	UMLS:C1708045|UMLS:CN202865|UMLS:C1266047|ORPHA:284395|NCIT:C45509
MONDO:0017293	obsolete small cell carcinoma of the bladder	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0017293		
MONDO:0017294	glycerol kinase deficiency, infantile form	biolink:Disease	mondo	Orphanet:284408|ICD10:E74.8	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017294	Infantile glycerol kinase deficiency (GKD) is a severe form of GKD characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy.	ORPHA:284408
MONDO:0032889	Poirier-Bienvenu neurodevelopmental syndrome	biolink:Disease	mondo	OMIM:618732		POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS	http://purl.obolibrary.org/obo/MONDO_0032889		http://identifiers.org/omim/618732
MONDO:0032887	neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity	biolink:Disease	mondo	OMIM:618730		NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS|Vandervore-Schot Syndrome	http://purl.obolibrary.org/obo/MONDO_0032887		http://identifiers.org/omim/618730
MONDO:0017290	familial intrahepatic cholestasis	biolink:Disease	mondo	ICD10:K83.1|UMLS:CN227107|UMLS:CN239338|Orphanet:284385|ICD9:576.8|SCTID:74162007	ordo_group_of_disorders	hereditary intrahepatic cholestasis	http://purl.obolibrary.org/obo/MONDO_0017290	An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome.	UMLS:CN227107|UMLS:CN239338|ORPHA:284385|SNOMEDCT:74162007
MONDO:0032888	neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies	biolink:Disease	mondo	OMIM:618731		NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC	http://purl.obolibrary.org/obo/MONDO_0032888		http://identifiers.org/omim/618731
MONDO:0044874	refractory cytopenia of childhood	biolink:Disease	mondo	NCIT:C82596|ONCOTREE:RCYC		refractory cytopenia of childhood|RCC	http://purl.obolibrary.org/obo/MONDO_0044874	The most common subtype of the myelodysplastic syndromes affecting children. It is characterized by persistent cytopenia with less than 5% blasts in the bone marrow and less than 2% blasts in the peripheral blood.	NCIT:C82596
GO:0046943	carboxylic acid transmembrane transporter activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0046943	Enables the transfer of carboxylic acids from one side of a membrane to the other. Carboxylic acids are organic acids containing one or more carboxyl (COOH) groups or anions (COO-).	
GO:0046942	carboxylic acid transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0046942	The directed movement of carboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carboxylic acids are organic acids containing one or more carboxyl (COOH) groups or anions (COO-).	
MONDO:0044873	childhood myelodysplastic syndrome	biolink:Disease	mondo	NCIT:C68744		childhood MDS|myelodysplastic syndrome|childhood myelodysplastic syndrome	http://purl.obolibrary.org/obo/MONDO_0044873	An uncommon hematologic malignancy occurring during childhood. Many of the morphologic, immunophenotypic, and genetic changes seen in adult myelodysplastic syndromes are also observed in the childhood variants of the disease. Children present with neutropenia and thrombocytopenia more often than adults, and bone marrow hypocellularity is more often seen in children than adults.	NCIT:C68744
MONDO:0044876	drug hypersensitivity syndrome	biolink:Disease	mondo	NCIT:C112208		Drug reaction with eosinophilia and Systemic symptoms|Drug hypersensitivity syndrome|DHS|dress	http://purl.obolibrary.org/obo/MONDO_0044876	A potentially life-threatening hypersensitivity reaction to a pharmacologic substance that is characterized by rash, lymphadenopathy, fever, hematologic abnormalities and involvement of one or more internal organs.	NCIT:C112208
MONDO:0044875	coronary microvascular disease	biolink:Disease	mondo	NCIT:C84478		microvascular endothelium heart disease|heart disease of microvascular endothelium|coronary microvascular disease|CMD	http://purl.obolibrary.org/obo/MONDO_0044875	A disorder affecting the smallest coronary arteries. Causes include atherosclerosis and arterial spasm. Chest pain is a frequently observed symptom.	NCIT:C84478
PATO:0000984	porous	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0000984	A porosity quality inhering in a bearer by virtue of the bearer's being capable of admitting the passage of gas or liquid through pores or interstices.	
MONDO:0044870	acquired torsion dystonia	biolink:Disease	mondo	SCTID:433493000|UMLS:C1719382		acquired torsion dystonia	http://purl.obolibrary.org/obo/MONDO_0044870	An instance of torsion dystonia that is acquired during the lifetime of the individual.	SNOMEDCT:433493000|UMLS:C1719382
MONDO:0044872	dysautonomia	biolink:Disease	mondo	NCIT:C53439		dysautonomia	http://purl.obolibrary.org/obo/MONDO_0044872	An acute or chronic disorder, affecting the sympathetic or parasympathetic nervous system. It can be primary, the result of central nervous system degeneration, or secondary due to diabetes or alcoholism. Patients with the chronic form of this disorder usually have a progressive clinical course and a poor prognosis.	NCIT:C53439
MONDO:0044871	dystonia, focal, task-specific	biolink:Disease	mondo	OMIM:611284|SCTID:230330004|MESH:C566973		musician's dystonia|task-specific dystonia|musician's cramp|dystonia, focal, task-specific; FTSD|focal task-specific dystonia|task-specific focal dystonia|occupational cramp|FTSD|focal hand dystonia|occupational dystonia|dystonia, focal, task-specific	http://purl.obolibrary.org/obo/MONDO_0044871		SNOMEDCT:230330004|http://identifiers.org/omim/611284|MESH:C566973
GO:0071902	positive regulation of protein serine/threonine kinase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0071902	Any process that increases the rate, frequency, or extent of protein serine/threonine kinase activity.	
GO:0019359	nicotinamide nucleotide biosynthetic process	biolink:OntologyClass	mondo			nicotinamide nucleotide synthesis|nicotinamide nucleotide biosynthesis|nicotinamide nucleotide formation|nicotinamide nucleotide anabolism	http://purl.obolibrary.org/obo/GO_0019359	The chemical reactions and pathways resulting in the formation of nicotinamide nucleotides, any nucleotide that contains combined nicotinamide.	
GO:0071901	negative regulation of protein serine/threonine kinase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0071901	Any process that decreases the rate, frequency, or extent of protein serine/threonine kinase activity.	
GO:0071900	regulation of protein serine/threonine kinase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0071900	Any process that modulates the rate, frequency, or extent of protein serine/threonine kinase activity.	
MONDO:0032896	spermatogenic failure 42	biolink:Disease	mondo	OMIM:618745		SPERMATOGENIC FAILURE 42; SPGF42	http://purl.obolibrary.org/obo/MONDO_0032896		http://identifiers.org/omim/618745
MONDO:0017299	acute annular outer retinopathy	biolink:Disease	mondo	Orphanet:284460	ordo_disease	AAOR	http://purl.obolibrary.org/obo/MONDO_0017299		ORPHA:284460
MONDO:0032897	intellectual developmental disorder with hypotonia and behavioral abnormalities	biolink:Disease	mondo	OMIM:618748		INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA	http://purl.obolibrary.org/obo/MONDO_0032897		http://identifiers.org/omim/618748
MONDO:0032894	neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy	biolink:Disease	mondo	OMIM:618741		NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA	http://purl.obolibrary.org/obo/MONDO_0032894		http://identifiers.org/omim/618741
MONDO:0032895	developmental and epileptic encephalopathy, 83	biolink:Disease	mondo	OMIM:618744		epileptic encephalopathy, early infantile, 83|DEE83|Barakat-Perenthaler Syndrome|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 83; EIEE83	http://purl.obolibrary.org/obo/MONDO_0032895		http://identifiers.org/omim/618744
MONDO:0032892	structural brain anomalies with impaired intellectual development and craniosynostosis	biolink:Disease	mondo	OMIM:618736		STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS	http://purl.obolibrary.org/obo/MONDO_0032892		http://identifiers.org/omim/618736
MONDO:0017295	glycerol kinase deficiency, juvenile form	biolink:Disease	mondo	ICD10:E74.8|Orphanet:284411	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017295	Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness.	ORPHA:284411
MONDO:0032893	pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures	biolink:Disease	mondo	OMIM:618737		PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS	http://purl.obolibrary.org/obo/MONDO_0032893		http://identifiers.org/omim/618737
MONDO:0017296	glycerol kinase deficiency, adult form	biolink:Disease	mondo	ICD10:E74.8|Orphanet:284414	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0017296	Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults.	ORPHA:284414
MONDO:0017297	CLIPPERS	biolink:Disease	mondo	GARD:0010779|UMLS:C3854437|Orphanet:284448	ordo_disease	chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids	http://purl.obolibrary.org/obo/MONDO_0017297		UMLS:C3854437|ORPHA:284448
MONDO:0032890	neuromuscular disease and ocular or auditory anomalies with or without seizures	biolink:Disease	mondo	OMIM:618733		NEUROMUSCULAR DISEASE AND OCULAR OR AUDITORY ANOMALIES WITH OR WITHOUT SEIZURES; NMOAS	http://purl.obolibrary.org/obo/MONDO_0032890		http://identifiers.org/omim/618733
HGNC:649	ARCN1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/649		
MONDO:0032891	aneurysm, intracranial berry, 12	biolink:Disease	mondo	OMIM:618734		ANEURYSM, INTRACRANIAL BERRY, 12; ANIB12	http://purl.obolibrary.org/obo/MONDO_0032891		http://identifiers.org/omim/618734
MONDO:0017298	acute zonal occult outer retinopathy	biolink:Disease	mondo	MESH:C538223|GARD:0008640|SCTID:312929003|UMLS:C0730298|ICD9:362.10|Orphanet:284454	gard_rare|ordo_disease	AZOOR	http://purl.obolibrary.org/obo/MONDO_0017298	Acute zonal occult outer retinopathy (AZOOR) is a rare condition that affects the eyes. People with this condition may experience a sudden onset of photopsia (the presence of perceived flashes of light) and an area of partial vision loss (a blindspot). Other symptoms may include 'whitening of vision' or blurred vision. Although anyone can be affected, the condition is most commonly diagnosed in young women (average age 36.7 years). The underlying cause of AZOOR is currently unknown; however, some researchers have proposed that infectious agents (such as viruses) or autoimmunity may play a role in the development of the condition. No treatment has been proven to improve the visual outcome of AZOOR; however, systemic corticosteroids are the most commonly used therapy.	UMLS:C0730298|MESH:C538223|SNOMEDCT:312929003|ORPHA:284454
MONDO:0017280	demodicidosis	biolink:Disease	mondo	UMLS:C3854478|GARD:0001802|Orphanet:283|ICD10:B88.0	gard_rare|ordo_disease	Demodex disease or disorder|Demodicosis|Demodex infectious disease|Demodex caused disease or disorder	http://purl.obolibrary.org/obo/MONDO_0017280	Demodicidosis is a rare parasitic cutaneous disease due to Demodex mite infestation characterized by variable degrees of spinulosis, erythema, papules, and pustules, usually accompanied by a burning or pruritic sensation. Face (incl. eyelids) is most frequently affected, but ear canal, scalp, neck, back, chest, nipples, buttocks, penis, and extremity (legs and arms) involvement have also been observed. Dermoscopic examination reveals Demodex tails and follicular openings.	UMLS:C3854478|ORPHA:283
MONDO:0017281	renal caliceal diverticuli-deafness syndrome	biolink:Disease	mondo	Orphanet:2838|UMLS:CN202834	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0017281		UMLS:CN202834|ORPHA:2838
MONDO:0017282	alveolar echinococcosis	biolink:Disease	mondo	ICD10:B67.7|ICD10:B67.6|DOID:12148|MESH:C536591|UMLS:C0152069|ICD9:122.7|ICD10:B67.5|GARD:0000207|Orphanet:284|UMLS:C0948954|MedDRA:10053042|SCTID:21009004	ordo_disease|gard_rare	Echinococcus multilocularis infection|Echinococcus multilocularis disease or disorder|Echinococcus multilocularis infectious disease|echinococcosis|Echinococcus multilocularis caused disease or disorder|alveolococcosis|multilocular hydatid|small fox tapeworm|echinococcus multilocularis infection	http://purl.obolibrary.org/obo/MONDO_0017282	Alveolar echinococcosis (AE) is a rare parasitic disorder that occurs after ingestion of eggs of Echinococcus multilocularis. AE is characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice.	DOID:12148|UMLS:C0152069|SNOMEDCT:21009004|MEDDRA:10053042|UMLS:C0948954|ORPHA:284|MESH:C536591
MONDO:0017283	facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	biolink:Disease	mondo	UMLS:CN202845|Orphanet:284169|ICD10:Q83.5	ordo_clinical_subtype	10p12p11 microdeletion syndrome|monosomy 10p11.21p12.31|deletion 10p11.21p12.31|Del(10)(p11.21p12.31)	http://purl.obolibrary.org/obo/MONDO_0017283		ORPHA:284169|UMLS:CN202845
MONDO:0032898	spermatogenic failure 43	biolink:Disease	mondo	OMIM:618751		SPERMATOGENIC FAILURE 43; SPGF43	http://purl.obolibrary.org/obo/MONDO_0032898		http://identifiers.org/omim/618751
HGNC:663	ARG1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/663		
MONDO:0032899	neutropenia, severe congenital, 8, autosomal dominant	biolink:Disease	mondo	OMIM:618752		Shwachman-Diamond Syndrome-Like|NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8|Neutropenia, Severe Congenital, 8, Autosomal Dominant, With or Without Pancreatic Dysfunction And/Or Neurologic Abnormalities	http://purl.obolibrary.org/obo/MONDO_0032899		http://identifiers.org/omim/618752
HP:0031650	Abnormal atrioventricular valve physiology	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0031650	Any functional defect of the mitral or tricuspid valve.	
MONDO:0044885	tonsillar lipoma	biolink:Disease	mondo	NCIT:C5989|UMLS:C1336764		tonsillar lipoma|tonsil lipoma|lipoma of tonsil|lipoma of the tonsil	http://purl.obolibrary.org/obo/MONDO_0044885	A benign adipose tissue neoplasm of the tonsils.	UMLS:C1336764|NCIT:C5989
MONDO:0044884	tonsillar lymphoma	biolink:Disease	mondo	UMLS:C1336765|NCIT:C5918		Primary tonsillar lymphoma|lymphoma of tonsil|lymphoma of the tonsil|tonsillar lymphoma|tonsil lymphoma	http://purl.obolibrary.org/obo/MONDO_0044884	A primary lymphoma that affects the tonsil and the bulk of the tumor is in this anatomic area. The majority of cases are B-cell non-Hodgkin lymphomas.	UMLS:C1336765|NCIT:C5918
HP:0031652	Abnormal aortic valve physiology	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0031652		
MONDO:0044887	central nervous system non-hodgkin lymphoma	biolink:Disease	mondo	SCTID:448254007|NCIT:C114779|UMLS:C2213246		non-Hodgkin lymphoma of central nervous system|Primary Central nervous system non-Hodgkin lymphoma|central nervous system non-Hodgkin lymphoma|Central nervous system non-Hodgkin lymphoma	http://purl.obolibrary.org/obo/MONDO_0044887	A non-Hodgkin lymphoma that arises from the central nervous system.	NCIT:C114779|SNOMEDCT:448254007|UMLS:C2213246
GO:0046952	ketone body catabolic process	biolink:OntologyClass	mondo			ketone body degradation|ketolysis|utilization of ketone bodies|ketone body catabolism|ketone body breakdown	http://purl.obolibrary.org/obo/GO_0046952	The chemical reactions and pathways resulting in the breakdown of ketone bodies, any one of the three substances: acetoacetate, D-3-hydroxybutyrate (beta-hydroxybutyrate) or acetone. Ketone bodies can be used as an energy source as an alternative to glucose. Utilization of ketone bodies in peripheral tissues involves conversion of acetoacetate to acetoacetyl-CoA, which is then converted to two molecules of acetyl-CoA.	
HP:0031653	Abnormal heart valve physiology	biolink:PhenotypicFeature	mondo				http://purl.obolibrary.org/obo/HP_0031653	Any functional abnormality of a cardiac valve.	
MONDO:0044881	hematopoietic and lymphoid cell neoplasm	biolink:Disease	mondo	NCIT:C27134		hematological tumor|hematopoietic malignancy, NOS|hematopoietic, Including myeloma|hematological neoplasm|hematopoietic cell tumor|hematopoietic cancer|hematopoietic and lymphoid cell neoplasm|hematologic malignancy|hematopoietic tumor|malignant hematologic neoplasm|hematologic neoplasm|malignant hematopoietic neoplasm|hematopoietic neoplasms including Lymphomas|hematopoietic and lymphoid neoplasms|hematopoietic neoplasm|HEMOLYMPHORETICULAR tumor, malignant|hematologic cancer	http://purl.obolibrary.org/obo/MONDO_0044881	A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes.	NCIT:C27134
GO:0046950	cellular ketone body metabolic process	biolink:OntologyClass	mondo			cellular ketone body metabolism	http://purl.obolibrary.org/obo/GO_0046950	The chemical reactions and pathways involving ketone bodies, any one of the three substances: acetoacetate, D-3-hydroxybutyrate (beta-hydroxybutyrate) or acetone, as carried out by individual cells. Although 3-hydroxybutyrate is not a ketone, it is classed as a ketone body because it exists in an equilibrium with acetoacetate. Ketone bodies may accumulate in excessive amounts in the body in starvation, diabetes mellitus or in other defects of carbohydrate metabolism.	
PATO:0000998	viscous	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0000998	A viscosity quality inhering in a bearer by virtue of the bearer's having viscosity.	
MONDO:0044880	cystic tumor of the pancreas	biolink:Disease	mondo	ONCOTREE:PACT			http://purl.obolibrary.org/obo/MONDO_0044880		
GO:0034982	mitochondrial protein processing	biolink:OntologyClass	mondo			mitochondrial protein modification	http://purl.obolibrary.org/obo/GO_0034982	The peptide cleavage of mitochondrial proteins, including cleavage contributing to their import.	
MONDO:0044878	adult germ cell tumor	biolink:Disease	mondo	NCIT:C114777		germ cell tumor|Adult germ cell tumor|germ cell tumor of adults	http://purl.obolibrary.org/obo/MONDO_0044878	A germ cell tumor that occurs during adulthood.	NCIT:C114777
MONDO:0044877	paraneoplastic cerebellar degeneration	biolink:Disease	mondo	NCIT:C4685		paraneoplastic cerebellar Degeneration	http://purl.obolibrary.org/obo/MONDO_0044877	A rare, immune-mediated disorder characterized by cerebellar degeneration due to the presence of an often undetected malignancy (usually carcinoma or lymphoma) in an anatomic site other than the cerebellum. Signs and symptoms include progressive ataxia, dysarthria, and nystagmus.	NCIT:C4685
PATO:0000992	viscosity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0000992	A physical quality of a liquid inhering in a bearer by virtue of the bearer's disposition to internal resistance to flow.	
MONDO:0044879	pancreatic mucinous-cystic neoplasm	biolink:Disease	mondo	ONCOTREE:MCN|NCIT:C41247		Pancreatic mucinous cystic neoplasm|mucinous cystic neoplasm|Pancreatic mucinous-cystic neoplasm	http://purl.obolibrary.org/obo/MONDO_0044879	A non-invasive or invasive cystic epithelial neoplasm that affects almost exclusively females. It is characterized by the presence of columnar mucin-producing epithelial cells and ovarian-type stroma formation.	NCIT:C41247
MONDO:0017288	DICER1 syndrome	biolink:Disease	mondo	Orphanet:284343|UMLS:CN202862|UMLS:C3839822|NCIT:C123317|UMLS:CN240512|EFO:0009068|SCTID:702411003|GARD:0010734|ICD9:199.1	gard_rare|ordo_clinical_subtype	PPBFTDS|DICER1-related pleuropulmonary blastoma|pleuropulmonary blastoma familial tumor susceptibility syndrome|PPB familial tumor susceptibility syndrome|pleuro-pulmonary blastoma familial tumor susceptibility syndrome|DICER1-related pleuropulmonary blastoma cancer predisposition syndrome|DICER1 syndrome	http://purl.obolibrary.org/obo/MONDO_0017288	A rare, autosomal dominant inherited syndrome caused by mutations in the DICER1 gene. People with this syndrome are at an increased risk of developing pleuropulmonary blastoma, cystic nephroma, Sertoli-Leydig cell tumor of the ovary, and multinodular goiter.	UMLS:CN240512|UMLS:C3839822|SNOMEDCT:702411003|NCIT:C123317|UMLS:CN202862|ORPHA:284343
MONDO:0017289	fetal lung interstitial tumor	biolink:Disease	mondo	UMLS:CN202863|Orphanet:284362	ordo_clinical_subtype	flit|immature interstitial mesenchymal tumor	http://purl.obolibrary.org/obo/MONDO_0017289		ORPHA:284362|UMLS:CN202863
MONDO:0017284	Xp22.13p22.2 duplication syndrome	biolink:Disease	mondo	Orphanet:284180|UMLS:CN202846|ICD10:Q99.8	ordo_malformation_syndrome	Duplication Xp22|dup(X)(p22)|dup(X)(p22.13p22.2)	http://purl.obolibrary.org/obo/MONDO_0017284		UMLS:CN202846|ORPHA:284180
MONDO:0017285	penoscrotal transposition (disease)	biolink:Disease	mondo	MESH:C536650|HP:0100600|UMLS:C1868854|ICD10:Q55.8|SCTID:312005008|GARD:0004273|MedDRA:10067287|Orphanet:2842|NCIT:C99010	ordo_morphological_anomaly	congenital penoscrotal transposition|Prepenile scrotum|congenital transposition of the penis|penoscrotal transposition	http://purl.obolibrary.org/obo/MONDO_0017285	Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).	NCIT:C99010|MESH:C536650|SNOMEDCT:312005008|UMLS:C1868854|MEDDRA:10067287|ORPHA:2842
MONDO:0017286	tempi syndrome	biolink:Disease	mondo	NCIT:C121656|SCTID:718614004|UMLS:C3854394|Orphanet:284227|GARD:0010962	ordo_clinical_syndrome|gard_rare	telangiectasia - erythrocytosis - monoclonal gammopathy - perinephric-fluid collections - intrapulmonary shunting|telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome	http://purl.obolibrary.org/obo/MONDO_0017286	TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting.	UMLS:C3854394|SNOMEDCT:718614004|ORPHA:284227|NCIT:C121656
GO:0019362	pyridine nucleotide metabolic process	biolink:OntologyClass	mondo			pyridine nucleotide metabolism	http://purl.obolibrary.org/obo/GO_0019362	The chemical reactions and pathways involving a pyridine nucleotide, a nucleotide characterized by a pyridine derivative as a nitrogen base.	
MONDO:0017287	IgG4-related disease	biolink:Disease	mondo	UMLS:C3203653|ORDO:284264|NCIT:C95992|Orphanet:284264|GARD:0012521|DOID:0080356|MedDRA:10071569	ordo_group_of_disorders	hyper-IgG4 disease|multifocal idiopathic fibrosclerosis|IgG4-related autoimmune disease|IgG4-associated disease|IgG4-syndrome|IgG4-related systemic disease|IgG4-related systemic sclerosing disease|IgG4-positive multiorgan lymphoproliferative syndrome|multifocal fibrosclerosis|IgG4-related sclerosing disease|Immunoglobulin G4-related sclerosing disease|systemic IgG4-related sclerosing syndrome|systemic IgG4-related plasmacytic syndrome	http://purl.obolibrary.org/obo/MONDO_0017287	A recently described mass-forming lesion that occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. It is characterized by the presence of marked tissue sclerosis and infiltration by numerous plasma cells. The plasma cells show immunohistochemical staining for IgG4 and the serum IgG4 levels are often increased.	MEDDRA:10071569|UMLS:C3203653|NCIT:C95992|DOID:0080356|ORPHA:284264
GO:0019363	pyridine nucleotide biosynthetic process	biolink:OntologyClass	mondo			pyridine nucleotide anabolism|pyridine nucleotide synthesis|pyridine nucleotide biosynthesis|pyridine nucleotide formation	http://purl.obolibrary.org/obo/GO_0019363	The chemical reactions and pathways resulting in the formation of a pyridine nucleotide, a nucleotide characterized by a pyridine derivative as a nitrogen base.	
MONDO:0005329	obsolete vascular sarcoma	biolink:Disease	mondo			blood vessel sarcoma	http://purl.obolibrary.org/obo/MONDO_0005329	A sarcoma arising from vascular tissue including arteries, veins, venous sinuses, arterioles and capillaries.	
MONDO:0005328	eye disease	biolink:Disease	mondo	UMLS:C0015397|ICD10:H44|SCTID:371405004|ICD9:379.8|NCIT:C26767|DOID:5614|ICD10:H44.9|ICD9:360|MESH:D005128|ICD9:360.9|COHD:375252|ICD9:379.90|ICD9:360.89|EFO:0003966		disorder of eye proper|disorder of eyeball|eyeball of camera-type eye disease or disorder|disorder of globe|disorder of eyeball of camera-type eye|disorder of eyeball of camera-type eye|disease or disorder of eyeball of camera-type eye|eye disease|disease of eye|disease of eyeball of camera-type eye|disorder of eye|eyeball of camera-type eye disease|disease of eyeball|eye disorder	http://purl.obolibrary.org/obo/MONDO_0005328	A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma.	DOID:5614|SNOMEDCT:371405004|MESH:D005128|NCIT:C26767|UMLS:C0015397
MONDO:0007988	autosomal dominant primary microcephaly	biolink:Disease	mondo	ICD10:Q02|MESH:C537323|Orphanet:2514|DOID:14725|GARD:0003605|OMIM:156580|UMLS:C0220693	gard_rare|ordo_etiological_subtype	microcephaly, autosomal dominant|autosomal dominant microcephaly|microcephaly with autosomal dominant inheritance|microcephaly autosomal dominant|microcephaly (disease), autosomal dominant|autosomal dominant primary microcephaly	http://purl.obolibrary.org/obo/MONDO_0007988	Autosomal dominant form of microcephaly (disease).	MESH:C537323|DOID:14725|UMLS:C0220693|http://identifiers.org/omim/156580|ORPHA:2514
MONDO:0005325	radius fracture	biolink:Disease	mondo	MESH:D011885|SCTID:12676007|EFO:0003957			http://purl.obolibrary.org/obo/MONDO_0005325	Traumatic or pathological injury to the radius bone in which the continuity of the bone is broken.	NCIT:C99039|SNOMEDCT:12676007|MESH:D011885
MONDO:0005324	seasonal allergic rhinitis	biolink:Disease	mondo	COHD:4280726|SCTID:367498001|MESH:D006255|EFO:0003956|NCIT:C92188		seasonal allergic rhinitis|hay fever	http://purl.obolibrary.org/obo/MONDO_0005324	Allergic rhinitis caused by outdoor allergens.	NCIT:C92188|MESH:D006255|SNOMEDCT:367498001
MONDO:0007989	congenital microcoria	biolink:Disease	mondo	GARD:0003635|Orphanet:566|MESH:C537550|OMIM:156600|SCTID:400962005	ordo_malformation_syndrome|gard_rare	Mcor|chromosome 13Q32 deletion syndrome|pinhole pupils|congenital miosis|microcoria, congenital|miosis, congenital	http://purl.obolibrary.org/obo/MONDO_0007989	2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma.	MESH:C537550|SNOMEDCT:400962005|ORPHA:566|http://identifiers.org/omim/156600|UMLS:C1303009
MONDO:0007986	metatropic dysplasia	biolink:Disease	mondo	MESH:C537356|DOID:0111514|Orphanet:2635|ICD10:Q77.8|GARD:0003571|OMIM:156530|SCTID:22764001	ordo_disease|gard_rare	Metatropic dysplasia, nonlethal dominant|Metatropic dwarfism|metatropic dysplasia	http://purl.obolibrary.org/obo/MONDO_0007986	Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.	DOID:0111514|http://identifiers.org/omim/156530|SNOMEDCT:22764001|ORPHA:2635|UMLS:C0265281|MESH:C537356
MONDO:0005327	hip fracture	biolink:Disease	mondo	EFO:0003964|SCTID:263225007|MESH:D006620			http://purl.obolibrary.org/obo/MONDO_0005327	Traumatic or pathological injury to the hip in which the continuity of either the femoral head, femoral neck, intertrochanteric or subtrochanteric regions is broken. Symptoms include pain in the hip or groin, bruising and swelling in and around the hip area. The injured hip is turned outward and the leg appears shorter on that side.	MESH:D006620|SNOMEDCT:263225007|NCIT:C26794
MONDO:0032942	neurodevelopmental disorder with microcephaly and dysmorphic facies	biolink:Disease	mondo	OMIM:618828		NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND DYSMORPHIC FACIES; NEDMIDF	http://purl.obolibrary.org/obo/MONDO_0032942		http://identifiers.org/omim/618828
MONDO:0007987	Kniest dysplasia	biolink:Disease	mondo	SCTID:53974002|NCIT:C125594|DOID:0080045|GARD:0006841|UMLS:C0265279|MESH:C537207|ICD9:756.9|OMIM:156550|ICD10:Q77.7|Orphanet:485	ordo_disease|gard_rare	Kniest dysplasia	http://purl.obolibrary.org/obo/MONDO_0007987	Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).	UMLS:C0265279|ORPHA:485|NCIT:C125594|http://identifiers.org/omim/156550|SNOMEDCT:53974002|DOID:0080045|MESH:C537207
MONDO:0032943	neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies	biolink:Disease	mondo	OMIM:618829		NEURODEVELOPMENTAL DISORDER WITH RELATIVE MACROCEPHALY AND WITH OR WITHOUT CARDIAC OR ENDOCRINE ANOMALIES; NEDMACE	http://purl.obolibrary.org/obo/MONDO_0032943		http://identifiers.org/omim/618829
MONDO:0005326	sunburn	biolink:Disease	mondo	ICD9:692.71|SCTID:403194002|MESH:D013471|EFO:0003958|ICD10:L55			http://purl.obolibrary.org/obo/MONDO_0005326	An inflammatory reaction from ultraviolet radiation characterized by transient redness, tenderness and occasional blistering.	MESH:D013471|NCIT:C3395|SNOMEDCT:403194002
MONDO:0005321	Fuchs' endothelial dystrophy	biolink:Disease	mondo	Orphanet:98974|UMLS:C0016781|ICD10:H18.5|ICD10:H18.51|OMIMPS:136800|NCIT:C84721|DOID:11555|EFO:0003946|UMLS:CN207231|DC:0000643|SCTID:193839007|MESH:D005642	ordo_disease	corneal dystrophy, Fuchs endothelial|Fuchs' corneal dystrophy|FECD|FCED|late hereditary endothelial dystrophy|Fuchs' endothelial corneal dystrophy|Fuchs endothelial dystrophy|Endoepithelial corneal dystrophy|Fuchs endothelial corneal dystrophy	http://purl.obolibrary.org/obo/MONDO_0005321	Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity.	ORPHA:98974|UMLS:CN207231|MESH:D005642|DOID:11555|NCIT:C84721|UMLS:C0016781|SNOMEDCT:193839007
MONDO:0007984	metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome	biolink:Disease	mondo	OMIM:156510|DOID:0111513|Orphanet:2504|ICD10:Q77.8|UMLS:CN201864|GARD:0003568	ordo_malformation_syndrome|gard_rare	MDMHB|metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly; MDMHB|metaphyseal dysplasia maxillary hypoplasia brachydactyly|metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly	http://purl.obolibrary.org/obo/MONDO_0007984	Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait.	DOID:0111513|http://identifiers.org/omim/156510|ORPHA:2504|UMLS:CN201864
MONDO:0005320	tibia fracture	biolink:Disease	mondo	COHD:440543|SCTID:31978002|EFO:0003944|MESH:D013978	other_hierarchy	bone fracture of tibia|tibia bone fracture	http://purl.obolibrary.org/obo/MONDO_0005320	Traumatic or pathological injury to the tibia in which the continuity of the bone is broken.	NCIT:C99083|MESH:D013978|SNOMEDCT:31978002
MONDO:0007985	metatarsus varus, type 1	biolink:Disease	mondo	MESH:C563585|UMLS:C1834968|OMIM:156520		metatarsus varus, type I	http://purl.obolibrary.org/obo/MONDO_0007985		MESH:C563585|http://identifiers.org/omim/156520|UMLS:C1834968
MONDO:0007982	metaphyseal chondrodysplasia, Jansen type	biolink:Disease	mondo	GARD:0000079|NCIT:C131868|MESH:C537564|SCTID:24629003|DOID:0080020|OMIM:156400|ICD10:Q78.5|Orphanet:33067|UMLS:C0265295	ordo_disease|gard_rare	metaphyseal chondrodysplasia, murk Jansen type|metaphyseal chondrodysplasia, Jansen type|Jansen metaphyseal chondrodysplasia|Jansen's metaphyseal chondrodysplasia|Jansen type metaphyseal chondrodysplasia|Jansen metaphyseal dysostosis|metaphyseal chondrodysplasia murk Jansen type|murk Jansen type metaphyseal chondrodysplasia|Jansen disease	http://purl.obolibrary.org/obo/MONDO_0007982	Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.	NCIT:C131868|ORPHA:33067|http://identifiers.org/omim/156400|SNOMEDCT:24629003|DOID:0080020|UMLS:C0265295|MESH:C537564
MONDO:0005323	bacterial sexually transmitted disease	biolink:Disease	mondo	UMLS:C0036917|MESH:D015231|EFO:0003955			http://purl.obolibrary.org/obo/MONDO_0005323	Bacterial diseases that are potentially transmitted or propagated by sexual conduct.	UMLS:C0036917|MESH:D015231
MONDO:0005322	ulna fracture	biolink:Disease	mondo	EFO:0003950|MESH:D014458|COHD:4182555|SCTID:54556006		bone fracture of ulna|ulna bone fracture	http://purl.obolibrary.org/obo/MONDO_0005322	Fractures of the larger bone of the forearm.	SNOMEDCT:54556006|MESH:D014458
MONDO:0007983	Schmid metaphyseal chondrodysplasia	biolink:Disease	mondo	DOID:0080021|SCTID:29248006|Orphanet:174|MESH:C537352|OMIM:156500|GARD:0007029|ICD10:Q78.5	ordo_disease	spondylometaphyseal dysplasia, Japanese type|Schmid type metaphyseal dysplasia|metaphyseal chondrodysplasia, Schmid type; MCDS|metaphyseal chondrodysplasia, Schmid type|metaphyseal chondrodysplasia Schmid type|Japanese type spondylometaphyseal dysplasia|MCDS	http://purl.obolibrary.org/obo/MONDO_0007983	Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.	SNOMEDCT:29248006|http://identifiers.org/omim/156500|DOID:0080021|MESH:C537352|UMLS:C0265289|ORPHA:174
MONDO:0007980	metachromasia of fibroblasts	biolink:Disease	mondo	OMIM:156300		metachromasia of fibroblasts	http://purl.obolibrary.org/obo/MONDO_0007980		http://identifiers.org/omim/156300
MONDO:0007981	metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a	biolink:Disease	mondo	UMLS:C1835007|OMIM:156310|MESH:C563587		metachromatic leukodystrophy, adult-onset, with normal arylsulfatase type a|metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a	http://purl.obolibrary.org/obo/MONDO_0007981		MESH:C563587|UMLS:C1835007|http://identifiers.org/omim/156310
MONDO:0020959	Mansonella ozzardi infection	biolink:Disease	mondo	UMLS:C0016089|ICD9:125.5|NCIT:C34612|SCTID:30865009		Mansonella Ozzardi Infection|filariasis ozzardi|Filariasis ozzardi|ozzardian filariasis|mansonella ozzardi infection|Mansonella ozzardi infection|Ozzardian filariasis|mansonella ozzardi infection	http://purl.obolibrary.org/obo/MONDO_0020959	An infection that is caused by the organism Mansonella ozzardi.	SNOMEDCT:30865009|UMLS:C0016089|NCIT:C34612
MONDO:0044926	oropharyngeal carcinoma	biolink:Disease	mondo	NCIT:C9105		oropharyngeal carcinoma|oropharyngeal throat cancer|oropharynx carcinoma|oropharyngeal cancer|cancer of oropharynx|cancer of the oropharynx|carcinoma of oropharynx|carcinoma of the oropharynx	http://purl.obolibrary.org/obo/MONDO_0044926	Carcinoma, predominantly squamous cell, arising from the epithelial cells of the oropharynx.	NCIT:C9105
MONDO:0017318	phakomatosis pigmentovascularis	biolink:Disease	mondo	Orphanet:2875|ICD9:709.09|GARD:0004312|MESH:C537894|ICD10:Q85.8|SCTID:403545005	ordo_disease	Phacomatosis pigmentovascularis|PPv|phakomatosis pigmentovascularis|association of cutaneous vascular malformations and different pigmentary disorders|port-wine stain with oculocutaneous melanosis	http://purl.obolibrary.org/obo/MONDO_0017318		ORPHA:2875|MESH:C537894|SNOMEDCT:403545005
MONDO:0044925	oral cavity carcinoma	biolink:Disease	mondo	UMLS:C0151546|NCIT:C8990		oral cavity cancer|oral cavity carcinoma|mouth carcinoma|carcinoma of the oral cavity|carcinoma of mouth|carcinoma of oral cavity	http://purl.obolibrary.org/obo/MONDO_0044925	A carcinoma arising in the oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma.	NCIT:C8990|UMLS:C0151546
MONDO:0017319	hereditary elliptocytosis	biolink:Disease	mondo	NCIT:C35882|GARD:0006621|ICD9:282.1|SCTID:178935009|DC:0000130|DOID:2373|ICD10:D58.1|COHD:22288|Orphanet:288|MedDRA:10014490|UMLS:C0013902|MESH:D004612	ordo_disease	congenital elliptocytosis|Hereditary ovalocytosis|he|ovalocytosis	http://purl.obolibrary.org/obo/MONDO_0017319	Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.	ORPHA:288|NCIT:C35882|UMLS:C0013902|DOID:2373|MEDDRA:10014490|SNOMEDCT:178935009|MESH:D004612|NCIT:C36293
MONDO:0017314	Ehlers-Danlos syndrome, vascular type	biolink:Disease	mondo	GARD:0002082|SCTID:17025000|Orphanet:286|NCIT:C125699|ICD10:Q79.6	ordo_disease|clingen	vEDS|Ehlers-Danlos syndrome type 4|Ehlers-Danlos syndrome type IV (formerly)|EDS type 4|EDS IV|EDS IV (formerly)|EDS type 4 (formerly)|Ehlers Danlos syndrome, sack-Barabas type|Ehlers-Danlos syndrome type 4 (formerly)|Ehlers-Danlos syndrome type IV|vascular EDS|sack-Barabas syndrome|Ehlers Danlos syndrome, arterial type|EDS4 (formerly)|Ehlers Danlos syndrome, ecchymotic type|Ehlers-Danlos syndrome, type IV|vascular Ehlers-Danlos syndrome	http://purl.obolibrary.org/obo/MONDO_0017314	Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.	ORPHA:286|NCIT:C125699|SNOMEDCT:17025000
MONDO:0019977	parkinsonism with dementia of Guadeloupe	biolink:Disease	mondo	Orphanet:97355|ICD10:F02.3*|UMLS:CN206908|ICD10:G20+|SCTID:715737004	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019977	Parkinsonism with dementia of Guadeloupe is characterised by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction.	ORPHA:97355|SNOMEDCT:715737004|UMLS:CN206908
MONDO:0017315	short stature-webbed neck-heart disease syndrome	biolink:Disease	mondo	SCTID:721073008|MESH:C535613|GARD:0000583|ICD10:Q87.8|UMLS:C2930950|Orphanet:2865	ordo_malformation_syndrome	Al Gazali Aziz Salem syndrome|Al Gazali-Aziz-Salem syndrome|short stature, intellectual disability, facial dysmorphism, short webbed neck, skin changes and congenital heart disease|short stature, webbed neck, heart disease	http://purl.obolibrary.org/obo/MONDO_0017315	Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents.	ORPHA:2865|SNOMEDCT:721073008|MESH:C535613|UMLS:C2930950
MONDO:0044921	atypical lymphoproliferative disorder	biolink:Disease	mondo	SCTID:20991001|NCIT:C7764|UMLS:C0272217		atypical lymphoproliferative disorder|atypical lymphoid hyperplasia	http://purl.obolibrary.org/obo/MONDO_0044921		NCIT:C7764|UMLS:C0272217|SNOMEDCT:20991001
MONDO:0019976	dementia pugilistica	biolink:Disease	mondo	MESH:D020208|Orphanet:97353|UMLS:CN206907|SCTID:230283005|ICD10:F01.8	ordo_disease	punch-drunk syndrome|chronic traumatic encephalopathy|Boxer's dementia	http://purl.obolibrary.org/obo/MONDO_0019976	Conditions characterized by persistent brain damage or dysfunction as sequelae of cranial trauma. This disorder may result from diffuse axonal injury; intracranial hemorrhages; brain edema; and other conditions. Clinical features may include dementia; focal neurologic deficits; persistent vegetative state; akinetic mutism; or coma.	ORPHA:97353|SNOMEDCT:230283005|UMLS:CN206907|MESH:D020208
MONDO:0017316	short stature-deafness-neutrophil dysfunction-dysmorphism syndrome	biolink:Disease	mondo	GARD:0004841|ICD10:Q87.1|SCTID:716192009|Orphanet:2866	ordo_malformation_syndrome	short stature deafness neutrophil dysfunction|thong-Douglas-Ferrante syndrome|thong Douglas Ferrante syndrome	http://purl.obolibrary.org/obo/MONDO_0017316	Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome is characterised by short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections).	ORPHA:2866|SNOMEDCT:716192009
MONDO:0019979	renal hypoplasia, unilateral	biolink:Disease	mondo	Orphanet:97361|ICD10:Q60.3	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0019979	Unilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which one kidney is small and has a deficit in the number of nephrons present.	ORPHA:97361|UMLS:C0431691
MONDO:0044924	obsolete acute myeloid leukemia with mutated CEBPA	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0044924		
MONDO:0019978	Robinow syndrome	biolink:Disease	mondo	OMIMPS:268310|DOID:0060254|UMLS:CN776872|UMLS:C0265205|NCIT:C85048|Orphanet:97360|GARD:0000312|ICD10:Q87.1	ordo_malformation_syndrome	Robinow dwarfism|Robinow-Silverman-Smith syndrome|acral dysostosis with facial and genital abnormalities|Covesdem syndrome (formerly)|costovertebral segmentation defect with mesomelia (formerly)|mesomelic dwarfism-small genitalia syndrome|fetal face syndrome	http://purl.obolibrary.org/obo/MONDO_0019978	Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.	UMLS:C0265205|ORPHA:97360|NCIT:C85048|DOID:0060254|UMLS:CN776872
MONDO:0017317	phakomatosis pigmentokeratotica	biolink:Disease	mondo	Orphanet:2874|MESH:C537893|SCTID:723455009|UMLS:C2931658|ICD10:Q85.8|GARD:0004311	ordo_malformation_syndrome	Phacomatosis pigmentokeratotica|organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies	http://purl.obolibrary.org/obo/MONDO_0017317	Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies.	ORPHA:2874|SNOMEDCT:723455009|MESH:C537893|UMLS:C2931658
MONDO:0044923	acute myeloid leukemia with mutated NPM1	biolink:Disease	mondo	NCIT:C82431|UMLS:C2826177|ONCOTREE:AMLNPM1		acute myeloid leukemia with mutated NPM1|acute myeloid leukemia with cytoplasmic nucleophosmin|NPMc+ AML|AML with mutated NPM1	http://purl.obolibrary.org/obo/MONDO_0044923	An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. It usually responds to induction therapy.	NCIT:C82431|UMLS:C2826177
MONDO:0019973	persistent placoid maculopathy	biolink:Disease	mondo	Orphanet:97341|UMLS:C4304823|SCTID:719297006	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019973	Persistent placoid maculopathy is characterised by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far with persistent placoid maculopathy had good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision.	UMLS:C4304823|SNOMEDCT:719297006|ORPHA:97341
MONDO:0017310	Marfan and Marfan-related disorder	biolink:Disease	mondo	UMLS:CN227112|Orphanet:284993	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017310		ORPHA:284993|UMLS:CN227112
MONDO:0017311	rare disease with thoracic aortic aneurysm and aortic dissection	biolink:Disease	mondo	ICD10:I71.2|ICD10:I71.1|UMLS:CN202889|Orphanet:285014	ordo_group_of_disorders|clingen		http://purl.obolibrary.org/obo/MONDO_0017311		ORPHA:285014|UMLS:CN202889
MONDO:0019972	dural sinus malformation	biolink:Disease	mondo	ICD10:Q28.3|Orphanet:97339	ordo_morphological_anomaly	cranial dural arteriovenous malformations|cranial dural arteriovenous fistula	http://purl.obolibrary.org/obo/MONDO_0019972		ORPHA:97339
MONDO:0017312	Perrault syndrome	biolink:Disease	mondo	UMLS:CN239459|SCTID:93466004|Orphanet:2855|ICD10:Q87.8|DOID:0050857|OMIMPS:233400|GARD:0002542|UMLS:C0685838	ordo_disease	gonadal dysgenesis, XX type, with deafness|XX gonodal dysgenesis-deafness syndrome	http://purl.obolibrary.org/obo/MONDO_0017312	Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.	DOID:0050857|UMLS:C0685838|SNOMEDCT:93466004|UMLS:CN239459|ORPHA:2855
MONDO:0019975	pellagra	biolink:Disease	mondo	MedDRA:10029400|DOID:8457|ICD9:265.2|Orphanet:97352|COHD:434310|UMLS:C0030783|SCTID:418279001|ICD10:E52|EFO:0008570|UMLS:C4317126|MESH:D010383|GARD:0010014	gard_rare|ordo_disease	pellagra|niacin-tryptophan deficiency|niacin deficiency	http://purl.obolibrary.org/obo/MONDO_0019975	Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management.	ORPHA:97352|MEDDRA:10029400|MESH:D010383|DOID:8457|SNOMEDCT:418279001|UMLS:C4317126|UMLS:C0030783
MONDO:0017313	disorder of folate metabolism and transport	biolink:Disease	mondo	UMLS:CN227114|Orphanet:285657	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017313		UMLS:CN227114|ORPHA:285657
MONDO:0019974	obsolete postencephalitic parkinsonism	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019974		
MONDO:0019971	melanoma of soft tissue	biolink:Disease	mondo	Orphanet:97338	ordo_disease	clear cell sarcoma of the tendons and aponeuroses	http://purl.obolibrary.org/obo/MONDO_0019971		ORPHA:97338
MONDO:0019970	Sinding-Larsen-Johansson disease	biolink:Disease	mondo	MedDRA:10063585|ICD10:M92.4|Orphanet:97337|UMLS:CN206897	ordo_disease	Osteochondrosis of patella|aseptic necrosis of patella	http://purl.obolibrary.org/obo/MONDO_0019970	Sinding-Larsen-Johansson disease is a type of osteochondrosis affecting the attachment of the patellar tendon to the patella and characterised by tenderness and localized swelling of the patella.	UMLS:CN206897|UMLS:C1504517|UMLS:C0264096|ORPHA:97337|MEDDRA:10063585
MONDO:0005339	androgenetic alopecia	biolink:Disease	mondo	ICD9:704.09|DOID:0050801|GARD:0009269|SCTID:87872006|EFO:0004191		male pattern baldness|androgenic alopecia|alopecia androgenetica, male pattern baldness|androgenetic alopecia	http://purl.obolibrary.org/obo/MONDO_0005339		DOID:0050801|SNOMEDCT:87872006
MONDO:0005336	myopathy	biolink:Disease	mondo	ICD9:359.8|NCIT:C101216|ICD10:G72.9|ICD9:359.9|EFO:0004145|DOID:423|SCTID:129565002|ICD10:M62.9|ICD10:M60-M63|UMLS:C0026848|ICD9:728.3			http://purl.obolibrary.org/obo/MONDO_0005336	A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness.	UMLS:C0026848|NCIT:C101216|SNOMEDCT:129565002|DOID:423
MONDO:0007999	holoprosencephaly 2	biolink:Disease	mondo	NCIT:C74995|DOID:0110872|OMIM:157170|MESH:C563579|UMLS:C1834877		HPE2|holoprosencephaly caused by mutation in SIX3|holoprosencephaly 2|SIX3 holoprosencephaly|holoprosencephaly type 2|holoprosencephaly 2; HPE2	http://purl.obolibrary.org/obo/MONDO_0007999	A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene.	DOID:0110872|NCIT:C74995|MESH:C563579|http://identifiers.org/omim/157170|UMLS:C1834877
MONDO:0005335	colorectal neoplasm	biolink:Disease	mondo	MESH:D015179|EFO:0004142|NCIT:C2956		colorectal tumor|neoplasm of the large bowel|neoplasm of colorectum|neoplasm of large bowel|large bowel neoplasm|colorectum tumor|large intestinal neoplasm|colorectum neoplasm|large bowel tumor|colorectal neoplasm|tumor of the large bowel|tumor of colorectum|colorectum neoplasm (disease)|tumor of large bowel|large intestine tumor|large intestine neoplasm	http://purl.obolibrary.org/obo/MONDO_0005335	A benign or malignant neoplasm that affects the colon or rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colorectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.	MESH:D015179|NCIT:C2956
MONDO:0005338	open-angle glaucoma	biolink:Disease	mondo	MESH:D005902|SCTID:84494001|UMLS:C0017612|ICD10:H40.13|ICD9:365.13|SCTID:46168003|COHD:441284|ICD10:H40.10|ICD9:365.10|ICD9:365.1|NCIT:C34641|EFO:0004190|DOID:1067|ICD10:H40.1		pigmentary glaucoma|glaucoma simplex|wide-angle glaucoma|open angle glaucoma	http://purl.obolibrary.org/obo/MONDO_0005338	Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage.	NCIT:C34641|SNOMEDCT:84494001|DOID:1067|UMLS:C0017612|MESH:D005902|SNOMEDCT:46168003
MONDO:0007997	microspherophakia with hernia	biolink:Disease	mondo	MESH:C537468|OMIM:157150|UMLS:C1834881|GARD:0009462	gard_rare	microspherophakia with hernia	http://purl.obolibrary.org/obo/MONDO_0007997		http://identifiers.org/omim/157150|UMLS:C1834881|MESH:C537468
MONDO:0007998	microspherophakia-metaphyseal dysplasia syndrome	biolink:Disease	mondo	GARD:0005481|ICD10:Q87.5|Orphanet:2551|MESH:C536540|UMLS:C1834880|OMIM:157151	ordo_malformation_syndrome	Verloes-Van Maldergem-de Marneffe syndrome|dominantly inherited bone dysplasia with severe eye involvement|Verloes Van Maldergem Marneffe syndrome|microspherophakia-metaphyseal dysplasia	http://purl.obolibrary.org/obo/MONDO_0007998	Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects.	MESH:C536540|http://identifiers.org/omim/157151|UMLS:C1834880|ORPHA:2551
MONDO:0005337	obsolete neuropathy	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005337		
MONDO:0007995	MCOPCT1	biolink:Disease	mondo	MESH:C563582|UMLS:C1834919|GARD:0009610|OMIM:156850		microphthalmia, isolated, with cataract 1; MCOPCT1|congenital cataract with microphthalmia|microphthalmia, isolated, with cataract 1|MCOPCT1|cataract, congenital, with microphthalmia|microphthalmia with cataract 1	http://purl.obolibrary.org/obo/MONDO_0007995		MESH:C563582|http://identifiers.org/omim/156850|UMLS:C1834919
MONDO:0005332		biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005332		
MONDO:0020950	viral eye infection	biolink:Disease	mondo	UMLS:C0015407|SCTID:312132001|MESH:D015828		Infection, Viral Ocular|OCULAR INFECT VIRAL|Ocular Infection, Viral|Infections, Viral Eye|Infections, Viral Ocular|Viral Ocular Infection|Viral Eye Infections|EYE INFECT VIRAL|Infection, Viral Eye|Ocular Infections, Viral|Eye Infection, Viral|VIRAL EYE INFECT|Viral Eye Infection|Viral Ocular Infections|Eye Infections, Viral|viral eye infection|Viral eye infection	http://purl.obolibrary.org/obo/MONDO_0020950	Infections of the eye caused by minute intracellular agents. These infections may lead to severe inflammation in various parts of the eye - conjunctiva, iris, eyelids, etc. Several viruses have been identified as the causative agents. Among these are Herpesvirus, Adenovirus, Poxvirus, and Myxovirus.	UMLS:C0015407|SNOMEDCT:312132001|MESH:D015828
MONDO:0005331	obsolete acrocephalosyndactylia	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005331		
MONDO:0007996	microphthalmia, isolated, with corectopia	biolink:Disease	mondo	MESH:C563581|OMIM:156900|UMLS:C1834918		microphthalmia with myopia and corectopia|MCOPCR|microphthalmia and corectopia|microphthalmia, isolated, with corectopia|microphthalmia, isolated, with corectopia; MCOPCR	http://purl.obolibrary.org/obo/MONDO_0007996		MESH:C563581|UMLS:C1834918|http://identifiers.org/omim/156900
MONDO:0005334	hereditary nephritis	biolink:Disease	mondo	MESH:D009394|SCTID:399340005|EFO:0004128		nephritis, familial|familial nephritis|hereditary nephritis	http://purl.obolibrary.org/obo/MONDO_0005334	A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane.	SNOMEDCT:399340005|MESH:D009394
MONDO:0007993	microgastria-limb reduction defect syndrome	biolink:Disease	mondo	OMIM:156810|UMLS:C1834929|Orphanet:2538|GARD:0003640|ICD10:Q87.8|MESH:C537554	ordo_malformation_syndrome	congenital microgastria and limb reduction defects|microgastria-limb reduction defects association|microgastria limb reduction defect|microgastria-limb reduction defects association; MLRD|MLRD	http://purl.obolibrary.org/obo/MONDO_0007993	This syndrome is characterised by the association of microgastria with a limb reduction defect.	http://identifiers.org/omim/156810|UMLS:C1834929|ORPHA:2538|MESH:C537554
MONDO:0005333	hyperthyroxinemia	biolink:Disease	mondo	MESH:D006981|UMLS:C0020551|DOID:2855|HGNC:399|EFO:0004127			http://purl.obolibrary.org/obo/MONDO_0005333	Abnormally elevated thyroxine level in the blood.	MESH:D006981|DOID:2855|UMLS:C0020551
MONDO:0007994	micromelic bone dysplasia with cloverleaf skull	biolink:Disease	mondo	OMIM:156830|MESH:C536429		micromelic bone dysplasia with cloverleaf skull	http://purl.obolibrary.org/obo/MONDO_0007994		http://identifiers.org/omim/156830|MESH:C536429
MONDO:0007991	microcephaly-deafness-intellectual disability syndrome	biolink:Disease	mondo	UMLS:C0796062|ICD10:Q87.8|OMIM:156620|Orphanet:2533|GARD:0000230|SCTID:716112005|MESH:C537326	ordo_malformation_syndrome	microcephaly-deafness syndrome|microcephaly deafness syndrome|syndrome of microcephaly, deafness/malformed ears, mental retardation and peculiar facies|Kawashima Tsuji syndrome|syndrome of microcephaly, deafness/malformed ears, intellectual disability and peculiar facies|Kawashima-Tsuji syndrome	http://purl.obolibrary.org/obo/MONDO_0007991	Microcephaly-deafness-intellectual disability syndrome is characterised by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant.	UMLS:C0796062|http://identifiers.org/omim/156620|ORPHA:2533|MESH:C537326|SNOMEDCT:716112005
MONDO:0007992	microcornea-glaucoma-absent frontal sinuses syndrome	biolink:Disease	mondo	OMIM:156700|Orphanet:2536|UMLS:C1834935|GARD:0003637|MESH:C537552|ICD10:Q15.8	ordo_malformation_syndrome	microcornea, glaucoma, and absent frontal sinuses|hereditary microcornea, glaucoma, and absent frontal sinuses	http://purl.obolibrary.org/obo/MONDO_0007992	Microcornea-glaucoma-absent frontal sinuses syndrome is characterised by microcornea, glaucoma and absent frontal sinuses. Less 10 cases have been described so far. The mode of transmission appears to be autosomal dominant.	http://identifiers.org/omim/156700|UMLS:C1834935|ORPHA:2536|MESH:C537552
MONDO:0005330	obsolete angiosarcoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005330		
MONDO:0007990	multiple benign circumferential skin creases on limbs	biolink:Disease	mondo	GARD:0003589|Orphanet:2505|UMLS:C0473586|ICD10:Q82.8|MESH:C537575	ordo_disease	circumferential skin creases, Kunze type|skin creases, multiple benign ring-shaped, of limbs|Michelin tire baby syndrome|CCSF|Kunze Riehm syndrome|congenital circumferential skin folds|Kunze-Riehm syndrome|CSCSC	http://purl.obolibrary.org/obo/MONDO_0007990		UMLS:C0473586|ORPHA:2505|MESH:C537575
MONDO:0044937	rectal carcinoma	biolink:Disease	mondo	NCIT:C9382		rectum carcinoma|cancer of rectum|cancer of the rectum|carcinoma of the rectum|carcinoma of rectum|rectal cancer|rectal carcinoma	http://purl.obolibrary.org/obo/MONDO_0044937	A malignant epithelial neoplasm that arises from the rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas.	NCIT:C9382
UBERON:0002195	trabecula of lymph node	biolink:AnatomicalEntity	mondo			lymph node trabecula|lymph node trabeculum	http://purl.obolibrary.org/obo/UBERON_0002195	Membranous process coming from capsule of lymph node[WP].	
MONDO:0017307	disorder of tyrosine metabolism	biolink:Disease	mondo	SCTID:37200009|ICD9:270.2|Orphanet:284818|UMLS:CN202881|ICD10:E70.2	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017307		UMLS:CN202881|ORPHA:284818|SNOMEDCT:37200009
MONDO:0017308	obsolete Marfan syndrome type 2	biolink:Disease	mondo	ICD10:Q87.4|MESH:C535911|UMLS:C2698016|UMLS:C2931058|NCIT:C75007|Orphanet:284973	speculative|ordo_clinical_subtype	Marfan syndrome type II|MFS2	http://purl.obolibrary.org/obo/MONDO_0017308	Hypothesized form of Marfan; dubious	NCIT:C75007|ORPHA:284973|UMLS:C2698016|MESH:C535911|UMLS:C2931058
UBERON:0002194	capsule of lymph node	biolink:AnatomicalEntity	mondo			capsula nodi lymphoidei|lymph node capsule	http://purl.obolibrary.org/obo/UBERON_0002194	Capsule surrounding lymph node composed of connective tissue with some plain muscle fibers.	
MONDO:0020947	parasitic eye infection	biolink:Disease	mondo	UMLS:C0015406|MESH:D015822|ICD9:136.9|SCTID:312418006		OCULAR INFECT PARASITIC|Parasitic Ocular Infections|Parasitic Eye Infection|parasitic eye infection|Infection, Parasitic Ocular|Parasitic eye infection|PARASITIC EYE INFECT|Infections, Parasitic Ocular|EYE INFECT PARASITIC|Parasitic Ocular Infection|Parasitic Eye Infections|Ocular Infection, Parasitic|Infections, Parasitic Eye|Infection, Parasitic Eye|Eye Infections, Parasitic|Eye Infection, Parasitic|Ocular Infections, Parasitic	http://purl.obolibrary.org/obo/MONDO_0020947	Mild to severe infections of the eye and its adjacent structures (adnexa) by adult or larval protozoan or metazoan parasites.	SNOMEDCT:312418006|UMLS:C0015406|MESH:D015822
MONDO:0019969	panner disease	biolink:Disease	mondo	ICD10:M92.0|Orphanet:97336|UMLS:CN206896	ordo_disease	Osteochondrosis of the capital humerus|aseptic necrosis of the capital humerus	http://purl.obolibrary.org/obo/MONDO_0019969	Panner's disease is an osteochondrosis of the capitellum of the humerus, characterised by involvement of the dominant upper limb and onset before the age of 10 years. It results from lateral compression injuries of the elbow typically occurring in children practising sports such as baseball and throw. It should be distinguished from osteochondritis dissecans of the capitellum, occurring later, in adolescents. Management is symptomatic and consists in reducing the activities of the affected elbow for a prolonged period of time. Prognosis is good.	ORPHA:97336|UMLS:CN206896
MONDO:0017309	neonatal Marfan syndrome	biolink:Disease	mondo	UMLS:CN202885|ICD10:Q87.4|UMLS:CN536247|SCTID:763839005|Orphanet:284979	ordo_disease	neonatal MFS	http://purl.obolibrary.org/obo/MONDO_0017309	Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.	UMLS:CN202885|ORPHA:284979|UMLS:CN536247|SNOMEDCT:763839005
UBERON:0002196	adenohypophysis	biolink:AnatomicalEntity	mondo			anterior lobe of pituitary gland|AHP|pituitary anterior lobe|anterior lobe of pituitary|anterior pituitary|cranial lobe|anterior pituitary gland|anterior lobe of the pituitary|anterior lobe (hypophysis)|lobus anterior (glandula pituitaria)|lobus anterior|pituitary gland, anterior lobe|pituitary glandanterior lobe|anterior hypophysis|anterior lobe of hypophysis|rostral lobe|lobus anterior hypophysis	http://purl.obolibrary.org/obo/UBERON_0002196	The glandular, anterior lobe of the pituitary gland. The anterior pituitary regulates several physiological processes including stress, growth, and reproduction[WP]. The anterior lobe of the hypophysis (pituitary gland). This lobe contains cells that produce prolactin, growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone and proopiomelanocortin[ZFA].	
UBERON:0002191	subiculum	biolink:AnatomicalEntity	mondo			gyrus parahippocampalis|subiculum cornu ammonis|subiculum hippocampi|subicular cortex	http://purl.obolibrary.org/obo/UBERON_0002191	Part of the hippocampal formation that is bounded by the entorhinal cortex and area CA1. It is characterized on the CA1 border by an abrupt widening of the pyramidal cell layer. A molecular layer is present that is continuous with that of CA1, although the stratum radiatum is no longer present. The stratum oriens is also not present. adapted from Paxinos, G. The rat central nervous system, 2nd ed, Academic Press, San Diego, 1995, pg. 468)	
MONDO:0020944	fungal infection of eye	biolink:Disease	mondo	UMLS:C0015405|MESH:D015821|ICD9:117.9|SCTID:31194008		EYE INFECT FUNGAL|Fungal Ocular Infection|Fungal Eye Infections|ocular mycosis|Eye Infection, Fungal|Infection, Fungal Eye|Ocular Infections, Fungal|MYCOTIC INFECT OCULAR|Mycotic Infections, Ocular|Infection, Ocular Mycotic|Mycoses, Ocular|Mycotic Infection, Ocular|Infections, Fungal Eye|OCULAR INFECT FUNGAL|Fungal Eye Infection|Fungal Ocular Infections|Infections, Ocular Mycotic|Fungal eye infection|Ocular Infection, Fungal|Mycosis, Ocular|Oculomycoses|Ocular Mycotic Infection|Ocular Mycoses|Infections, Fungal Ocular|Eye Infections, Fungal|Infection, Fungal Ocular|fungal eye infection|fungal infection of eye|Oculomycosis|Fungal infection of eye|Ocular Mycosis|Ocular mycosis|FUNGAL EYE INFECT|Ocular Mycotic Infections	http://purl.obolibrary.org/obo/MONDO_0020944	Infection by a variety of fungi, usually through four possible mechanisms: superficial infection producing conjunctivitis, keratitis, or lacrimal obstruction; extension of infection from neighboring structures - skin, paranasal sinuses, nasopharynx; direct introduction during surgery or accidental penetrating trauma; or via the blood or lymphatic routes in patients with underlying mycoses.	SNOMEDCT:31194008|UMLS:C0015405|MESH:D015821
MONDO:0017303	qualitative or quantitative defects of tropomyosin	biolink:Disease	mondo	Orphanet:284790	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017303		ORPHA:284790
MONDO:0019966	obsolete thoracic outlet syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019966		
MONDO:0017304	ocular albinism (disease)	biolink:Disease	mondo	MESH:D016117|DOID:0050633|HP:0001107|ICD9:270.2|ICD10:E70.3|Orphanet:284804|SCTID:26399002|MedDRA:10065276	ordo_group_of_disorders	XLOA|ocular albinism	http://purl.obolibrary.org/obo/MONDO_0017304	Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.	DOID:0050633|ORPHA:284804|UMLS:C0078917|MESH:D016117|SNOMEDCT:26399002|MEDDRA:10065276
MONDO:0019965	obsolete rare benign ovarian tumor	biolink:Disease	mondo	Orphanet:97293	ordo_group_of_disorders|obsoletion_candidate	rare ovarian benign neoplasm	http://purl.obolibrary.org/obo/MONDO_0019965	Any of the forms of ovarian benign neoplasm that have a rare incidence.	ORPHA:97293
UBERON:0002190	subcutaneous adipose tissue	biolink:AnatomicalEntity	mondo			subcutaneous fat|fatty layer of superficial fascia|panniculus adiposus (tela subcutanea)|fatty layer of subcutaneous tissue|panniculus adiposus telae subcutaneae|panniculus adiposus|subcutaneous fat layer|hypodermis fat layer	http://purl.obolibrary.org/obo/UBERON_0002190	A portion of adipose tissue that is part of the hypodermis, beneath the dermis.	
MONDO:0017305	syndromic oculocutaneous albinism	biolink:Disease	mondo	ICD10:E70.3|UMLS:CN227111|Orphanet:284811	ordo_group_of_disorders	syndrome associated with oculocutaneous albinism|syndromic oculocutaneous albinism|syndrome associated with oculocutaneous albinism	http://purl.obolibrary.org/obo/MONDO_0017305	A oculocutaneous albinism that is part of a larger syndrome.	ORPHA:284811|UMLS:CN227111
UBERON:0002193	hemolymphoid system	biolink:AnatomicalEntity	mondo			haemolymphoid system|hematolymphoid system|lymphomyeloid complex	http://purl.obolibrary.org/obo/UBERON_0002193	Anatomical cluster consisting of the hematopoietic system and the lymphoid system, or its analogs.	
MONDO:0019968	obsolete Osgood-Schlatter disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019968		
MONDO:0019967	Kienbock disease	biolink:Disease	mondo	MedDRA:10064242|Orphanet:97332|ICD10:M93.2|ICD10:M92.2|GARD:0009690	ordo_disease	osteochondritis of the lunate bone|aseptic necrosis of the lunate bone|Lunatomalacia|bilateral Kienbock's disease|Kienbock's disease|Osteochondrosis of the lunate bone	http://purl.obolibrary.org/obo/MONDO_0019967	Kienbock disease is a rare bone disorder of unknown etiology characterized clinically by osteonecrosis of the carpal lunate, eventually leading to collapse of the lunate bone impacting wrist function.	MEDDRA:10064242|ORPHA:97332|UMLS:C0022682
MONDO:0017306	disorder of phenylalanine metabolism	biolink:Disease	mondo	UMLS:C0268461|SCTID:12957008|ICD10:E70.1|ICD10:E70.0|Orphanet:284814|ICD9:270.8	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017306		ORPHA:284814|SNOMEDCT:12957008|UMLS:C0268461
MONDO:0019962	thyroid lymphoma	biolink:Disease	mondo	ICD10:C85.7|NCIT:C5265|Orphanet:97285|DOID:10011|UMLS:C1336753	ordo_disease	thyroid gland lymphoma|thyroid lymphoma|lymphoma of the thyroid gland|lymphoma of thyroid gland|primary thyroid gland lymphoma|lymphoma of the thyroid|lymphoma of thyroid	http://purl.obolibrary.org/obo/MONDO_0019962	A lymphoma primarily involving the thyroid gland.	ORPHA:97285|DOID:10011|NCIT:C5265|UMLS:C1336753
MONDO:0017300	congenital pericardium anomaly	biolink:Disease	mondo	ICD9:746.89|SCTID:93018000|ICD10:Q24.8|Orphanet:2846	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017300	Congenital pericardium anomaly comprises a group of rare congenital cardiac malformations characterized by the complete (Congenital complete agenesis of pericardium) or partial absence of the pericardium (Congenital partial agenesis of pericardium), or by the presence of pericardial cysts (Pleuropericardial cyst).	ORPHA:2846|SNOMEDCT:93018000|UMLS:C0685699
MONDO:0019961	obsolete somatostatinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019961		
MONDO:0017301	pericardial and diaphragmatic defect	biolink:Disease	mondo	Orphanet:2847	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0017301	Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect.	ORPHA:2847
MONDO:0019964	thymic neuroendocrine tumor	biolink:Disease	mondo	UMLS:CN206887|Orphanet:97289|ICD10:D38.4|ONCOTREE:TNET	ordo_disease	thymus neuroendocrine neoplasm|thymus neuroendocrine tumor, well differentiated, low or intermediate grade|thymus neuroendocrine tumor|thymus NET|neuroendocrine neoplasm of thymus|thymus neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0019964	Thymic endocrine tumor is a rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid sydrome, respectively.	ORPHA:97289|UMLS:CN206887
MONDO:0019963	bronchial endocrine tumor	biolink:Disease	mondo	UMLS:CN206886|ICD10:D38.1|Orphanet:97287	ordo_disease	bronchial neuroendocrine tumor|bronchial NET|bronchus neuroendocrine neoplasm|bronchus neuroendocrine tumor|bronchus NET|bronchus neuroendocrine tumor, well differentiated, low or intermediate grade|neuroendocrine neoplasm of bronchus|bronchus neuroendocrine tumor	http://purl.obolibrary.org/obo/MONDO_0019963	A neuroendocrine neoplasm that involves the bronchus.	ORPHA:97287|UMLS:CN206886
MONDO:0017302	qualitative or quantitative defects of troponin	biolink:Disease	mondo	Orphanet:284786	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017302		ORPHA:284786
UBERON:0002199	integument	biolink:AnatomicalEntity	mondo			the integument|vertebrate integument|dermoid system|integumentum commune|skin|skin plus hypodermis|tegument|Hautsystem@de|dermis plus epidermis plus hypodermis|dermal system|skin and subcutaneous tissue	http://purl.obolibrary.org/obo/UBERON_0002199	The dermis, epidermis and hypodermis.	
UBERON:0002198	neurohypophysis	biolink:AnatomicalEntity	mondo			pituitary gland, posterior lobe|lobus posterior hypophysis|posterior pituitary gland|NHP|lobus nervosus|infundibular process|pituitary gland, neural lobe|lobus posterior|lobus nervosus neurohypophysis|neural lobe|posterior lobe of hypophysis|neurohypophysis|pituitary gland neural lobe|lobus posterior (glandula pituitaria)|posterior lobe of pituitary gland|neural lobe of pituitary gland|posterior lobe of pituitary|neural lobe of pituitary|posterior pituitary|neuro hypophysis	http://purl.obolibrary.org/obo/UBERON_0002198	The posterior part of the pituitary gland that secretes hormones involved in blood pressure regulation such as oxytocin and antidiuretic hormon.	
MONDO:0019960	VIPoma	biolink:Disease	mondo	GARD:0003787|MedDRA:10047430|ICD10:E16.8|SCTID:253005002|MESH:D003969|DOID:5574|UMLS:C0011993|GARD:0005493|NCIT:C26749|Orphanet:97282|EFO:1000622|ICDO:8155/1|ICD9:239.7	ordo_disease	malignant vasoactive intestinal peptide-secreting tumor|VIP- secreting tumor|VIP-producing NET|pancreatic cholera|vasoactive intestinal peptide secreting neoplasm|vasoactive intestinal peptide-producing tumor|vasoactive intestinal peptide producing tumor|watery diarrhea-hypokalemia-achlorhydria syndrome|VIPoma|Verner-Morrison syndrome|VIP- secreting neoplasm|VIP-secreting tumor|VIP-producing neuroendocrine tumor|VIPoma, malignant|Diarrheogenic islet cell tumor|pancreatic vipoma|vasoactive intestinal peptide producing neoplasm|WDHA syndrome|watery diarrhea, hypokalemia, and achlorhydria syndrome|vasoactive intestinal peptide-secreting tumor|VIP producing neoplasm|vasoactive intestinal peptide (VIP) tumor	http://purl.obolibrary.org/obo/MONDO_0019960	VIPoma is an extremely rare type of pancreatic neuroendocrine tumor that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome).	UMLS:C0011993|NCIT:C26749|SNOMEDCT:253005002|MESH:D003969|DOID:5574|MEDDRA:10047430|ORPHA:97282
MONDO:0005307	contracture	biolink:Disease	mondo	MESH:D003286|EFO:0003899			http://purl.obolibrary.org/obo/MONDO_0005307	Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint.	MESH:D003286
PATO:0000947	elliptic	biolink:OntologyClass	mondo			ellipsoid|ellipse-shaped|ovoid|oval|elliptical	http://purl.obolibrary.org/obo/PATO_0000947	A spheroid quality inhering in a bearer by virtue of the bearer's being oval with two axes of symmetry, as produced by a conical section.	
MONDO:0005306	ankylosing spondylitis	biolink:Disease	mondo	NCIT:C84564|DOID:7147|EFO:0003898|MESH:D013167|COHD:437082|SCTID:9631008|ICD10:M45|ICD9:720.0		Bekhterev syndrome|Bekhterev's disease|Marie-Strumpell disease	http://purl.obolibrary.org/obo/MONDO_0005306	An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine.	DOID:7147|SNOMEDCT:9631008|MESH:D013167|NCIT:C84564
MONDO:0005309	spinal fracture	biolink:Disease	mondo	EFO:0003902|SCTID:50448004|MESH:D016103		bone fracture of vertebral column|vertebral column bone fracture	http://purl.obolibrary.org/obo/MONDO_0005309	Traumatic or pathological injury to the spine in which the continuity of a vertebral bone is broken. Symptoms include back pain and difficulty bending and twisting.	NCIT:C80516|SNOMEDCT:50448004|MESH:D016103
MONDO:0007968	melanoma tumor antigen Gp90	biolink:Disease	mondo	OMIM:155770		melanoma tumor antigen Gp90|Class 1 unique tumor antigen of melanoma	http://purl.obolibrary.org/obo/MONDO_0007968		http://identifiers.org/omim/155770
MONDO:0005308	ciliopathy	biolink:Disease	mondo	DOID:0060340|EFO:0003900|UMLS:CN580792|GTR:AN0966173|Orphanet:363250	ordo_group_of_disorders	ciliopathies	http://purl.obolibrary.org/obo/MONDO_0005308	A ciliopathy is a genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function.	UMLS:CN580792|ORPHA:363250|DOID:0060340
MONDO:0007969	Melkersson-Rosenthal syndrome	biolink:Disease	mondo	EFO:1001039|GARD:0007010|OMIM:155900|UMLS:C0025235|MESH:D008556|MedDRA:10027166|Orphanet:2483|ICD10:G51.2|DOID:1761|NCIT:C84886	ordo_malformation_syndrome|gard_rare	Melkersson's syndrome|cheilitis granulomatosa of Mescher-Melkersson-Rosenthal|Melkersson-Rosenthal syndrome|MRS|Melkersson syndrome|cheilitis Granulomatosa|Mros	http://purl.obolibrary.org/obo/MONDO_0007969	The Melkersson-Rosenthal syndrome is a rare disorder characterized by a triad of recurrent orofacial swelling, relapsing facial paralysis and fissured tongue and onset in childhood or early adolescence. It has an estimated incidence of 8/10,000. The etiology is unknown but hereditary predisposition is suspected.	ORPHA:2483|http://identifiers.org/omim/155900|UMLS:C0025235|MESH:D008556|MEDDRA:10027166|DOID:1761|NCIT:C84886
MONDO:0007966	susceptibility to uveal melanoma	biolink:Disease	mondo	OMIM:155720	predisposition	melanoma, uveal	http://purl.obolibrary.org/obo/MONDO_0007966		http://identifiers.org/omim/155720
MONDO:0005303	drug dependence	biolink:Disease	mondo	ICD9:304.6|SCTID:191816009|NCIT:C3894|COHD:440069|ICD9:304|ICD9:304.60|DOID:9974|EFO:0003890|ICD9:304.90		chemical dependence	http://purl.obolibrary.org/obo/MONDO_0005303	Drug dependence - replaced the term "drug addiction" and is defined as a state, psychic and sometimes also physical, resulting from the interaction between a living organism and a drug, characterized by behavioral and other responses that always include a compulsion to take the drug on a continuous or periodic basis in order to experience its psychic effects, and sometimes to avoid the discomfort of its absence. Tolerance may or may not be present. A person may be dependent on more than one drug.	NCIT:C3894|SNOMEDCT:191816009|DOID:9974
MONDO:0007967	melanoma and neural system tumor syndrome	biolink:Disease	mondo	MESH:C536149|OMIM:155755|GARD:0008468|DOID:0111511|Orphanet:252206|UMLS:C1835042|SCTID:717968005	ordo_disease	melanoma-astrocytoma syndrome|melanoma and neural system tumor syndrome|melanoma astrocytoma syndrome	http://purl.obolibrary.org/obo/MONDO_0007967	Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma).	http://identifiers.org/omim/155755|SNOMEDCT:717968005|MESH:C536149|DOID:0111511|ORPHA:252206|UMLS:C1835042
MONDO:0005302	attention deficit hyperactivity disorder, inattentive type	biolink:Disease	mondo	MESH:D001289|ICD9:314.01|EFO:0003888|DOID:1094|COHD:438409|SCTID:406506008|ICD9:314.8|ICD9:314.9|NCIT:C35092		attention deficit hyperactivity disorder, inattentive/distractible type|attention deficit disorder|ADD|hyperkinetic disorder|attention deficit hyperactivity disorder, predominantly inattentive type|ADHD	http://purl.obolibrary.org/obo/MONDO_0005302	A mental disorder characterized by inattention, easy distraction, careless mistakes and avoidance of tasks that require sustained mental focus. These behaviors can lead to maladaptive consequences in the affected individual's life.	NCIT:C35092|MESH:D001289|DOID:1094|SNOMEDCT:406506008
MONDO:0007964	dysplastic nevus syndrome	biolink:Disease	mondo	OMIM:155601|MESH:D004416|NCIT:C7584|EFO:0004199|DOID:10041	predisposition	melanoma, cutaneous malignant, susceptibility to, type 2|CMM2|susceptibility to cutaneous malignant melanoma 2|melanoma, cutaneous malignant, susceptibility to, 2|familial dysplastic nevi|melanoma, cutaneous malignant, susceptibility to, 2; CMM2|B-K Mole syndrome|Atypical Mole syndrome	http://purl.obolibrary.org/obo/MONDO_0007964	Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)	http://identifiers.org/omim/155601|NCIT:C7584|DOID:10041|MESH:D004416
MONDO:0005305	obsolete epistaxis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005305		
MONDO:0005304	biliary tract neoplasm (disease)	biolink:Disease	mondo	DOID:0050625|UMLS:C0345913|ONCOTREE:BILIARYTRACT|EFO:0003891|HP:0100574|SCTID:126853008		tumor of biliary tree|tumor of the extrahepatic bile duct|extrahepatic bile duct neoplasm|biliary tree neoplasm|neoplasm of biliary tree|biliary tree tumor|neoplasm of extrahepatic bile ducts|biliary tract neoplasm|biliary tree neoplasm (disease)	http://purl.obolibrary.org/obo/MONDO_0005304	A neoplasm that involves the biliary tract.	UMLS:C0345913|DOID:0050625|SNOMEDCT:126853008
MONDO:0007965	melanoma, malignant familial intraocular	biolink:Disease	mondo	MESH:C563596|OMIM:155700|UMLS:C1835043		melanoma, malignant familial intraocular	http://purl.obolibrary.org/obo/MONDO_0007965		http://identifiers.org/omim/155700|MESH:C563596|UMLS:C1835043
MONDO:0007962	Megalodactyly	biolink:Disease	mondo	SCTID:48449000|OMIM:155500|MESH:C562546|NCIT:C48900		macrodactyly|Megalodactyly	http://purl.obolibrary.org/obo/MONDO_0007962	A condition in which a finger or toe is larger than normal size secondary to excessive growth of the anatomical structures or abnormal accumulation of substances.	NCIT:C48900|SNOMEDCT:48449000|MESH:C562546|http://identifiers.org/omim/155500
MONDO:0007963	melanoma, cutaneous malignant, susceptibility to, 1	biolink:Disease	mondo	SCTID:254819008|OMIM:155600	predisposition	melanoma, cutaneous malignant|melanoma, cutaneous malignant, susceptibility to, 1|dysplastic Nevus syndrome, hereditary|CMM1|familial atypical Mole-malignant melanoma syndrome|melanoma, malignant|B-K Mole syndrome|melanoma, familial|melanoma, cutaneous malignant, susceptibility to, 1; CMM1	http://purl.obolibrary.org/obo/MONDO_0007963		http://identifiers.org/omim/155600|SNOMEDCT:254819008
MONDO:0007960	megacystis-microcolon-intestinal hypoperistalsis syndrome	biolink:Disease	mondo	DOID:0060610|OMIM:249210|GARD:0003442|UMLS:C1608393|Orphanet:2241|ICD10:Q43.8|NCIT:C98982|MESH:C536138|SCTID:253781004	ordo_malformation_syndrome	MMIHS|megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS|megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH|megacystis microcolon intestinal hypoperistalsis syndrome|megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome|MMIH syndrome|megacystis, microcolon, hypoperistalsis syndrome|Berdon syndrome|visceral myopathy|megacystis, microcolon, intestinal hypoperistalsis syndrome	http://purl.obolibrary.org/obo/MONDO_0007960	Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis.	MESH:C536138|http://identifiers.org/omim/249210|SNOMEDCT:253781004|DOID:0060610|UMLS:C1608393|NCIT:C98982|ORPHA:2241
MONDO:0005301	multiple sclerosis	biolink:Disease	mondo	MESH:D009103|UMLS:C0026769|SCTID:24700007|COHD:374919|NCIT:C3243|ICD10:G35|ICD9:340|DOID:2377|EFO:0003885		generalized multiple sclerosis|insular sclerosis	http://purl.obolibrary.org/obo/MONDO_0005301	A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers.	MESH:D009103|UMLS:C0026769|DOID:2377|SNOMEDCT:24700007|NCIT:C3243
MONDO:0005300	chronic kidney disease	biolink:Disease	mondo	SCTID:709044004|ICD10:N18.9|COHD:46271022|UMLS:C0022661|NCIT:C80078|EFO:0003884|DOID:784|MESH:D007676|ICD9:585|ICD9:585.6		chronic renal failure syndrome|chronic renal disease|chronic renal insufficiency|kidney disease, chronic|chronic kidney failure|CKD - chronic kidney disease|renal failure - chronic|chronic kidney disease|CKD	http://purl.obolibrary.org/obo/MONDO_0005300	Impairment of the renal function secondary to chronic kidney damage persisting for three or more months.	NCIT:C80078|DOID:784|SNOMEDCT:709044004|MESH:D007676|UMLS:C0022661
MONDO:0007961	megalencephaly, autosomal dominant	biolink:Disease	mondo	UMLS:C3805727|OMIM:155350		megalencephaly, autosomal dominant	http://purl.obolibrary.org/obo/MONDO_0007961		http://identifiers.org/omim/155350|UMLS:C3805727
MONDO:0019959	glucagonoma	biolink:Disease	mondo	UMLS:C0017689|SCTID:16424000|ICD10:E16.8|Orphanet:97280|MedDRA:10018404|EFO:1000441|GARD:0002496|MESH:D005935|NCIT:C95597	gard_rare|ordo_disease	pancreatic glucagonoma|glucagonoma syndrome|glucagonoma	http://purl.obolibrary.org/obo/MONDO_0019959	Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms.	NCIT:C95597|MEDDRA:10018404|ORPHA:97280|SNOMEDCT:16424000|UMLS:C0017689|MESH:D005935
UBERON:0002184	segmental bronchus	biolink:AnatomicalEntity	mondo			tertiary bronchus	http://purl.obolibrary.org/obo/UBERON_0002184	The tertiary bronchi (also known as the segmental bronchi) arise from the secondary bronchi. The respiratory epithelium lining their lumen is surrounded by a layer of smooth muscle. This layer is composed of two ribbons of smooth muscle that spiral in opposite directions. The smooth muscle layer is surrounded by irregular plates of hyaline cartilage which help maintain the patency of the airway. Each of the tertiary bronchi serves a specific bronchopulmonary segment. There are 10 tertiary bronchi in the right lung, and eight in the left. The tertiary bronchi get smaller and divide into primary bronchioles. [WP,unvetted].	
MONDO:0020937	contractures, pterygia, and variable skeletal fusions syndrome	biolink:Disease	mondo	OMIMPS:178110			http://purl.obolibrary.org/obo/MONDO_0020937		
UBERON:0002183	lobar bronchus	biolink:AnatomicalEntity	mondo			lobar bronchi|bronchi lobaris|secondary bronchus|secondary bronchi	http://purl.obolibrary.org/obo/UBERON_0002183	The lobar bronchus is the major airway within the respiratory tree that starts by division of the principal bronchi on both sides and ends at the point of its own subdivision into tertiary or segmental bronchi[GO].	
MONDO:0019958	obsolete insulinoma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0019958		
UBERON:0002186	bronchiole	biolink:AnatomicalEntity	mondo			lobular bronchiole|bronchiolus|bronchioli	http://purl.obolibrary.org/obo/UBERON_0002186	the conducting airway of the lungs found terminal to the bronchi; these structures contain neither cartilage nor mucous-secreting glands; the epithelium of the bronchioles becomes thinner with each branching	
UBERON:0002185	bronchus	biolink:AnatomicalEntity	mondo			bronchial tissue|bronchi|bronchial trunk	http://purl.obolibrary.org/obo/UBERON_0002185	the upper conducting airways of the lung; these airways arise from the terminus of the trachea	
UBERON:0002180	ventral funiculus of spinal cord	biolink:AnatomicalEntity	mondo			ventral funiculi|ventral funiculus|anterior funiculus|funiculus anterior medullae spinalis|ventral white column of spinal cord|anterior white column of spinal cord|ventral funiculus of spinal cord|anterior funiculus of spinal cord	http://purl.obolibrary.org/obo/UBERON_0002180	The white substance of the spinal cord lying on either side between the ventral median fissure and the ventral roots of the spinal nerves.	
MONDO:0019955	GRFoma	biolink:Disease	mondo	UMLS:CN206877|ICD10:E16.8|Orphanet:97261	ordo_disease	GRF tumor|Growth hormone releasing factor tumor	http://purl.obolibrary.org/obo/MONDO_0019955	6cm and approximately 1/3 have metastasized at the time of diagnosis. It often co-occurs with Zollinger-Ellison syndrome or multiple endocrine neoplasia type 1 (MEN 1).	ORPHA:97261|UMLS:CN206877
MONDO:0019954	pancreatic neuroendocrine tumor	biolink:Disease	mondo	EFO:1000045|GARD:0013034|Orphanet:97253|ICD10:E16.8|NCIT:C27720|ICDO:8150/1|ONCOTREE:PANET	ordo_group_of_disorders	well differentiated pancreatic endocrine neoplasm|neuroendocrine tumor of pancreas|islet cell tumors of the pancreas|well-differentiated NEN of pancreas|well-differentiated pancreatic NEN|pancreatic endocrine tumor|pancreatic NET|well-differentiated pancreatic neuroendocrine neoplasm|well-differentiated neuroendocrine neoplasm of pancreas|PANET|islet cell tumor|pancreatic neuroendocrine tumor|well differentiated pancreatic endocrine tumor|islet cell tumors - pancreas	http://purl.obolibrary.org/obo/MONDO_0019954	Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma).	ORPHA:97253|NCIT:C27720
UBERON:0002182	main bronchus	biolink:AnatomicalEntity	mondo			extrapulmonary bronchus|bronchus principalis|major bronchus|principal bronchus|proximal bronchus|primary bronchus|mainstem bronchus	http://purl.obolibrary.org/obo/UBERON_0002182	One of two branches of the trachea.	
MONDO:0019957	PPoma	biolink:Disease	mondo	UMLS:CN206879|NCIT:C67453|ICD10:E16.8|ICD9:239.89|UMLS:C1882278|Orphanet:97278|SCTID:255039001|UMLS:C0346407|ICDO:8152/1	ordo_disease	pancreatic polypeptide tumor|pancreatic polypeptidoma|pancreatic polypeptide neoplasm	http://purl.obolibrary.org/obo/MONDO_0019957	PPoma is a type of pancreatic endocrine tumor that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1).	ORPHA:97278|UMLS:C1882278|SNOMEDCT:255039001|UMLS:CN206879|NCIT:C67453|UMLS:C0346407
MONDO:0019956	encephalitis	biolink:Disease	mondo	ICD9:323.9|ICD9:323.8|NCIT:C26760|MESH:D004660|MedDRA:10014581|SCTID:45170000|DOID:9588|Orphanet:97275|ICD10:A85|ICD9:323.0|UMLS:C0014038	ordo_group_of_disorders	brain inflammation	http://purl.obolibrary.org/obo/MONDO_0019956	An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes.	SNOMEDCT:45170000|ORPHA:97275|MEDDRA:10014581|DOID:9588|NCIT:C26760|MESH:D004660|UMLS:C0014038
MONDO:0019951	rigid spine syndrome	biolink:Disease	mondo	MESH:C535683|Orphanet:97244|ICD10:G71.2|GARD:0004723	ordo_disease	desmin-related myopathies with Mallory bodies|muscular dystrophy, congenital, merosin positive with early spine rigidity|rigid spine muscular dystrophy-1|rigid spine congenital muscular dystrophy	http://purl.obolibrary.org/obo/MONDO_0019951	Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.	ORPHA:97244|MESH:C535683
MONDO:0019950	congenital muscular dystrophy	biolink:Disease	mondo	Orphanet:97242|GARD:0009138|ICD10:G71.2|ICD9:359.0|EFO:0006819|UMLS:C0699743|SCTID:240059009|DOID:0050557	ordo_group_of_disorders	congenital MD|MDC|CMD	http://purl.obolibrary.org/obo/MONDO_0019950	A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.	ORPHA:97242|UMLS:C0699743|DOID:0050557|SNOMEDCT:240059009
MONDO:0019953	mega-cisterna magna	biolink:Disease	mondo	Orphanet:97252|ICD10:Q07.8	ordo_morphological_anomaly		http://purl.obolibrary.org/obo/MONDO_0019953		UMLS:C3164501|ORPHA:97252
MONDO:0019952	congenital myopathy	biolink:Disease	mondo	DOID:0080100|MedDRA:10062547|Orphanet:97245|ICD10:G71.2|GARD:0005898	ordo_group_of_disorders	myopathy congenital|batten Turner congenital myopathy	http://purl.obolibrary.org/obo/MONDO_0019952		ORPHA:97245|UMLS:C0270960|MEDDRA:10062547|DOID:0080100
UBERON:0002188	respiratory bronchiole	biolink:AnatomicalEntity	mondo			bronchiolus respiratorii|bronchiolus respiratorius	http://purl.obolibrary.org/obo/UBERON_0002188	A bronchiole that is the first segment of the respiratory zone.	
UBERON:0002187	terminal bronchiole	biolink:AnatomicalEntity	mondo			bronchioli terminalis|terminal bronchiole tube|bronchiolus terminalis	http://purl.obolibrary.org/obo/UBERON_0002187	the last conducting structure of non-respiratory bronchioles; after this point, the airways have alveoli in their walls	
MONDO:0005318	canker sore	biolink:Disease	mondo	SCTID:427617000|NCIT:C62546|MESH:D013281|HP:0032154|EFO:0003938		aphthous stomatitis|aphthous ulcer|canker sore	http://purl.obolibrary.org/obo/MONDO_0005318	A type of stomatitis that is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring. It is a recurrent disease of the oral mucosa of unknown etiology.	SNOMEDCT:427617000|MESH:D013281|NCIT:C62546
PATO:0000957	opacity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/PATO_0000957	An optical quality which obtains by virtue of the ability of the bearer to absorb visible light.	
MONDO:0005317	obsolete fatty liver	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005317		
MONDO:0007979	metachondromatosis	biolink:Disease	mondo	OMIM:156250|SCTID:205481009|ICD9:756.59|MESH:C562938|Orphanet:2499|UMLS:C0410530|ICD10:Q78.4|DOID:0111512|GARD:0003560	ordo_malformation_syndrome|gard_rare	metachondromatosis|METACHONDROMATOSIS; METCDS|METCDS	http://purl.obolibrary.org/obo/MONDO_0007979	Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions.	ORPHA:2499|UMLS:C0410530|SNOMEDCT:205481009|DOID:0111512|http://identifiers.org/omim/156250|MESH:C562938
MONDO:0005319	humerus fracture	biolink:Disease	mondo	EFO:0003943|SCTID:66308002|MESH:D006810|COHD:442619	other_hierarchy	humeral fracture|fractures, humeral|fracture, humeral	http://purl.obolibrary.org/obo/MONDO_0005319	A traumatic or pathologic injury to the humerus in which the continuity of the humerus is broken.	SNOMEDCT:66308002|MESH:D006810|NCIT:C26795
MONDO:0007977	mesomelic dysplasia, Kantaputra type	biolink:Disease	mondo	Orphanet:1836|MESH:C535547|OMIM:156232|ICD10:Q78.8|SCTID:719397009|GARD:0003074	ordo_malformation_syndrome|gard_rare	mesomelic dysplasia, Thai type|mesomelic dysplasia, Kantaputra type; MMDK|mesomelic dysplasia Kantaputra type|MMDK|mesomelic dysplasia Thai type|mesomelic dysplasia with ankle carpal and tarsal synostosis|mesomelic dysplasia with ankle, carpal, and tarsal synostosis|Kantaputra mesomelic dysplasia|MDK|Mdk|mesomelic dysplasia, Kantaputra type	http://purl.obolibrary.org/obo/MONDO_0007977	Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.	ORPHA:1836|MESH:C535547|UMLS:C1835009|http://identifiers.org/omim/156232|SNOMEDCT:719397009
MONDO:0005314	relapsing-remitting multiple sclerosis	biolink:Disease	mondo	MESH:D020529|EFO:0003929|DOID:2378|UMLS:C0751967|SCTID:426373005		Relapsing-remitting MS|RRMS	http://purl.obolibrary.org/obo/MONDO_0005314	The most common clinical variant of multiple sclerosis, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see optic neuritis), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)	SNOMEDCT:426373005|UMLS:C0751967|DOID:2378|MESH:D020529
MONDO:0005313	necrotizing enterocolitis	biolink:Disease	mondo	ICD9:777.5|NCIT:C84915|UMLS:C4082937|EFO:0003928|SCTID:2707005|MESH:D020345|UMLS:C0520459|Orphanet:391673		NEC|necrotizing enterocolitis|necrotizing enterocolitis in fetus or newborn	http://purl.obolibrary.org/obo/MONDO_0005313	Necrotizing enterocolitis (NEC) is a devastating disease that affects mostly the intestine of premature infants. The wall of the intestine is invaded by bacteria, which cause local infection and inflammation that can ultimately destroy the wall of the bowel (intestine). Such bowel wall destruction can lead to perforation of the intestine and spillage of stool into the infant's abdomen, which can result in an overwhelming infection and death.	SNOMEDCT:2707005|ORPHA:391673|UMLS:C0520459|MESH:D020345|UMLS:C4082937|NCIT:C84915
MONDO:0007978	obsolete malignant mesothelioma	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0007978		
MONDO:0005316	bacterial vaginosis	biolink:Disease	mondo	DOID:3385|EFO:0003932|UMLS:C0085166|NCIT:C116973|SCTID:419760006|MESH:D016585		BV	http://purl.obolibrary.org/obo/MONDO_0005316	Infection caused by bacterial overgrowth in the vagina. Most affected women are asymptomatic. When symptoms occur, they include foul-smelling vaginal discharge, vaginal itching, and burning. Risk factors include sexual activity with multiple partners and the use of vaginal douches and intrauterine devices. Up to a third of cases resolve without treatment. Antibiotic treatment is recommended when symptoms are present and for women that are pregnant at the time of infection.	UMLS:C0085166|NCIT:C116973|DOID:3385|SNOMEDCT:419760006|MESH:D016585
MONDO:0007975	meralgia paraesthetica, familial	biolink:Disease	mondo	UMLS:C1835026|OMIM:156220|MESH:C563590		meralgia paraesthetica, familial	http://purl.obolibrary.org/obo/MONDO_0007975		MESH:C563590|UMLS:C1835026|http://identifiers.org/omim/156220
MONDO:0005315	bone fracture	biolink:Disease	mondo	EFO:0003931|NCIT:C3046|SCTID:125605004|COHD:75053|MESH:D050723	other_hierarchy	fracture|fracture of bone|fracture(s)	http://purl.obolibrary.org/obo/MONDO_0005315	Breaks in bones.	SNOMEDCT:125605004|NCIT:C3046|MESH:D050723
MONDO:0007976	mesomelic dwarfism of hypoplastic tibia and radius type	biolink:Disease	mondo	OMIM:156230|UMLS:C1835010|GARD:0007313|MESH:C563589	gard_rare	mesomelic dwarfism of hypoplastic tibia and radius type	http://purl.obolibrary.org/obo/MONDO_0007976		UMLS:C1835010|MESH:C563589|http://identifiers.org/omim/156230
MONDO:0005310	atrial flutter (disease)	biolink:Disease	mondo	SCTID:5370000|HP:0004749|COHD:314665|ICD9:427.32|MESH:D001282|EFO:0003911|NCIT:C51224		atrial flutter	http://purl.obolibrary.org/obo/MONDO_0005310	A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate of 240-340 beats per minute. Multiple P waves typically appear in the inferior leads in a saw tooth-like pattern between the QRS complexes. (CDISC)	SNOMEDCT:5370000|MESH:D001282|NCIT:C51224
MONDO:0007973	mental and growth retardation with amblyopia	biolink:Disease	mondo	UMLS:C1835028|MESH:C563591|OMIM:156190		mental and growth retardation with amblyopia	http://purl.obolibrary.org/obo/MONDO_0007973		MESH:C563591|UMLS:C1835028|http://identifiers.org/omim/156190
MONDO:0007974	intellectual disability, autosomal dominant 1	biolink:Disease	mondo	DOID:0070031|NCIT:C141424|MESH:C566947|OMIM:156200		mental retardation, autosomal dominant 1|autosomal dominant intellectual disability 1|autosomal dominant non-syndromic intellectual disability caused by mutation in MBD5|intellectual disability, autosomal dominant 1; MRD1|mental retardation, autosomal dominant type 1|mental retardation, autosomal dominant 1; MRD1|autosomal dominant non-syndromic intellectual disability 1|autosomal dominant mental retardation 1|MRD1|intellectual disability, autosomal dominant type 1|chromosome 2Q23.1 deletion syndrome|MBD5 autosomal dominant non-syndromic intellectual disability|intellectual disability, autosomal dominant 1	http://purl.obolibrary.org/obo/MONDO_0007974	An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures.	MESH:C566947|NCIT:C141424|DOID:0070031|http://identifiers.org/omim/156200
HGNC:25033	LRTOMT	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25033		
MONDO:0005312	pouchitis	biolink:Disease	mondo	ICD10:K91.850|MESH:D019449|Orphanet:217067|ICD9:569.71|UMLS:C0376620|EFO:0003921			http://purl.obolibrary.org/obo/MONDO_0005312	Acute inflammation in the intestinal mucosa of the continent ileal reservoir (or pouch) in patients who have undergone ileostomy and restorative proctocolectomy (proctocolectomy, restorative).	MESH:D019449|ORPHA:217067|UMLS:C0376620
MONDO:0007971	delayed membranous cranial ossification	biolink:Disease	mondo	ICD10:Q75.8|MESH:C563592|UMLS:C1835030|GARD:0001727|SCTID:715524004|OMIM:155980|Orphanet:3034	ordo_malformation_syndrome|gard_rare	membranous cranial ossification, delayed|Gonzales-del Angel syndrome	http://purl.obolibrary.org/obo/MONDO_0007971	Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development.	MESH:C563592|SNOMEDCT:715524004|UMLS:C1835030|ORPHA:3034|http://identifiers.org/omim/155980
MONDO:0044964	oral cavity mucoepidermoid carcinoma	biolink:Disease	mondo	UMLS:C0280309|NCIT:C8177		oral cavity mucoepidermoid cancer|mucoepidermoid carcinoma of the oral cavity|mucoepidermoid carcinoma of oral cavity|oral cavity mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0044964	A mucoepidermoid carcinoma arising from the minor salivary glands in the oral cavity. It is often asymptomatic and detected during a routine dental examination.	NCIT:C8177|UMLS:C0280309
MONDO:0005311	atherosclerosis	biolink:Disease	mondo	ICD9:440.8|ICD10:I25.1|NCIT:C35771|NCIT:C35768|ICD10:I70|ICD9:440|MESH:D050197|DOID:1936|EFO:0003914|SCTID:441574008		atherosclerosis of artery|atherosclerosis artery|atherosclerotic cardiovascular disease	http://purl.obolibrary.org/obo/MONDO_0005311	Build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen.	NCIT:C35768|NCIT:C35771|MESH:D050197|DOID:1936|SNOMEDCT:441574008
MONDO:0007972	Meniere disease	biolink:Disease	mondo	ICD10:H81.0|EFO:0006862|MESH:D008575|SCTID:13445001|OMIM:156000|ICD9:386.00|UMLS:C0025281|DOID:9849|ICD9:386.0|ICD10:H81.09		Mnire's vertigo|Meniere disease|otogenic vertigo|Meniere's disease	http://purl.obolibrary.org/obo/MONDO_0007972	A disease of the inner ear (labyrinth) that is characterized by fluctuating sensorineural hearing loss; tinnitus; episodic vertigo; and aural fullness. It is the most common form of endolymphatic hydrops.	UMLS:C0025281|MESH:D008575|http://identifiers.org/omim/156000|DOID:9849|SNOMEDCT:13445001
MONDO:0007970	melorheostosis	biolink:Disease	mondo	ICD9:756.89|NCIT:C84887|DOID:4253|ICD10:M85.8|OMIM:155950|UMLS:C0025239|MedDRA:10050284|GARD:0009474|MESH:D008557|SCTID:44697002|Orphanet:2485	ordo_malformation_syndrome|gard_rare	melorheostosis, isolated|Mel	http://purl.obolibrary.org/obo/MONDO_0007970	Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.	MESH:D008557|MEDDRA:10050284|NCIT:C84887|SNOMEDCT:44697002|ORPHA:2485|http://identifiers.org/omim/155950|DOID:4253|UMLS:C0025239
NCBITaxon:115425	Cochliomyia hominivorax	organism taxon	mondo	GC_ID:1		primary screw-worm	http://purl.obolibrary.org/obo/NCBITaxon_115425		
UBERON:0002173	pulmonary alveolar duct	biolink:AnatomicalEntity	mondo			ductus alveolaris|alveolar duct|respiratory alveolar duct	http://purl.obolibrary.org/obo/UBERON_0002173	the respiratory conducting tubes distal to the respiratory bronchiole that lead to the alveolar sacs and the alveoli	
MONDO:0019948	reducing body myopathy	biolink:Disease	mondo	ICD10:G71.2|DOID:0080090|Orphanet:97239|ICD9:359.89|SCTID:42779002|GARD:0012162	ordo_disease|gard_rare		http://purl.obolibrary.org/obo/MONDO_0019948	Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres.	DOID:0080090|SNOMEDCT:42779002|ORPHA:97239|UMLS:C0270970
MONDO:0019947	rippling muscle disease 2	biolink:Disease	mondo	OMIM:606072|MONDO:0011910|UMLS:C1832560|NCIT:C148325|DOID:0060255	ordo_disease	rippling muscle disease 2; RMD2|muscular dystrophy limb-girdle type IC|rippling muscle disease caused by mutation in CAV3|muscular dystrophy, limb-girdle, type 1C; LGMD1C|rippling muscle disease type 2|limb-girdle muscular dystrophy type 1C|autosomal dominant limb-girdle muscular dystrophy caused by mutation in CAV3|LGMD1C|limb-girdle muscular dystrophy due to caveolin-3 deficiency|RMD2|rippling muscle disease 2|muscular dystrophy, limb-girdle, type IC|CAV3 autosomal dominant limb-girdle muscular dystrophy|muscular dystrophy, limb-girdle, type 1C|CAV3 rippling muscle disease	http://purl.obolibrary.org/obo/MONDO_0019947	An autosomal dominant condition caused by mutation(s) in the CAV3 gene, encoding caveolin-3. It is characterized by mechanically triggered contractions of skeletal muscles. Limb-girdle muscular dystrophy type 1C is an allelic disorder with an overlapping phenotype.	NCIT:C148325|UMLS:C1832560|http://identifiers.org/omim/606072|DOID:0060255
MONDO:0019949	zebra body myopathy	biolink:Disease	mondo	Orphanet:97240|UMLS:C0270969|ICD10:G71.2|ICD9:359.89|SCTID:34513009	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019949		SNOMEDCT:34513009|ORPHA:97240|UMLS:C0270969
MONDO:0019944	Eisenmenger syndrome	biolink:Disease	mondo	MedDRA:10058554|NCIT:C84390|MESH:D004541|UMLS:C0013743|Orphanet:97214|ICD10:I27.2|GARD:0006323|SCTID:445928005	gard_rare|ordo_malformation_syndrome	Eisenmenger's syndrome	http://purl.obolibrary.org/obo/MONDO_0019944	Eisenmenger syndrome (ES) is an form of pulmonary arterial hypertension (PAH) associated with unoperated congenital heart disease and is characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH.	ORPHA:97214|UMLS:C0013743|MEDDRA:10058554|NCIT:C84390|MESH:D004541|SNOMEDCT:445928005
MONDO:0019943	hereditary continuous muscle fiber activity	biolink:Disease	mondo	UMLS:C1834559|GARD:0001512|Orphanet:972|ICD10:G71.1	gard_rare|ordo_disease	continuous muscle fiber activity hereditary	http://purl.obolibrary.org/obo/MONDO_0019943	Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia.	ORPHA:972|UMLS:C1834559
MONDO:0020920	escherichia coli infection	biolink:Disease	mondo	NCIT:C34594|GTR:AN0474198|MESH:D004927|UMLS:C0014836|EFO:1001318|GTR:AN0485755|GTR:AN0485754|SCTID:71057007|HP:0002740		Infection, E. coli|E. coli infection|Recurrent E. coli infections|E Coli Infection|Escherichia Coli Infection|E coli Infections|Infection due to Escherichia coli|Infection, E coli|Infection, Escherichia coli|Bacterial infection due to E. coli|E. coli Infection|Infections, E coli|ESCHERICHIA COLI INFECT|Colibacillosis|E coli Infection|E COLI INFECT|Infections, Escherichia coli|E. coli Infections|Escherichia coli Infection|INFECT E COLI|E coli infections|INFECT ESCHERICHIA COLI|Escherichia coli Infections|Escherichia coli infection|e coli infection|Bacterial infection caused by E. coli|escherichia coli infection|E coli infections, recurrent|Infection caused by Escherichia coli	http://purl.obolibrary.org/obo/MONDO_0020920	Infection with the organism Escherichia Coli.	NCIT:C34594|SNOMEDCT:71057007|MESH:D004927|UMLS:C0014836
MONDO:0019946	ligneous conjunctivitis	biolink:Disease	mondo	ICD10:H10.4|SCTID:403435005|MedDRA:10071570|UMLS:C1274789|ICD9:372.39|GARD:0006187|Orphanet:97231	ordo_disease	conjunctivitis lignosa	http://purl.obolibrary.org/obo/MONDO_0019946	Ligneous conjunctivitis (LC) is a rare form of chronic conjunctivitis characterised by the recurrent formation of pseudomembranous lesions most commonly on the palpebral surfaces. It is most frequently reported as a clinical manifestation of severe homozygous or compound-heterozygous hypoplasminogenemia.	MEDDRA:10071570|SNOMEDCT:403435005|ORPHA:97231|UMLS:C1274789
MONDO:0019945	solar urticaria	biolink:Disease	mondo	SCTID:10347006|ICD10:L56.3|MedDRA:10041307|UMLS:C0263610|ICD9:708.8|Orphanet:97230	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019945	Solar urticaria (SU) is a rare and difficult to treat photosensitive disease, in which local skin swelling occurs within minutes of exposure to natural sunlight or even artificial light sources emitting ultraviolet radiation.	MEDDRA:10041307|SNOMEDCT:10347006|ORPHA:97230|UMLS:C0263610
MONDO:0044956	paranasal sinus mucoepidermoid carcinoma	biolink:Disease	mondo	NCIT:C6018		mucoepidermoid carcinoma of the accessory sinus|mucoepidermoid carcinoma of accessory sinus|accessory sinus mucoepidermoid carcinoma|mucoepidermoid carcinoma of the paranasal sinus|mucoepidermoid carcinoma of paranasal sinus|paranasal sinus mucoepidermoid carcinoma	http://purl.obolibrary.org/obo/MONDO_0044956	A rare carcinoma that arises from the paranasal sinus. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type.	NCIT:C6018
MONDO:0019940	hypertrichosis-acromegaloid facial appearance syndrome	biolink:Disease	mondo	GARD:0000502|ICD10:Q87.0|Orphanet:966|SCTID:721837000|UMLS:CN226272	ordo_malformation_syndrome|gard_rare	acromegaloid hypertrichosis syndrome|hypertrichosis-acromegaloid facial features syndrome|hypertrichosis-coarse face syndrome|acromegaloid facial appearance syndrome and hypertrichosis|haff	http://purl.obolibrary.org/obo/MONDO_0019940	Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, CantC9 type.	UMLS:CN226272|ORPHA:966|SNOMEDCT:721837000
MONDO:0019942	distal arthrogryposis	biolink:Disease	mondo	DOID:0050646|GARD:0000786|Orphanet:97120|SCTID:24269006|ICD10:Q68.8|OMIMPS:108120	ordo_group_of_disorders	freeman-Sheldon syndrome|arthrogryposis multiplex congenita|freeman-Sheldon syndrome variant|arthrogryposis multiplex congenita distal	http://purl.obolibrary.org/obo/MONDO_0019942	A muscle tissue disease characterized by congenital joint contractures of hand and feet.	UMLS:C0265213|ORPHA:97120|DOID:0050646|SNOMEDCT:24269006
MONDO:0019941	hereditary sensory and autonomic neuropathy type 2	biolink:Disease	mondo	ICD10:G60.8|PMID:21089229|SCTID:398148000|DOID:0070161|Orphanet:970|GARD:3976|GARD:0003976	ordo_disease	hereditary sensory neuropathy type 2|HSAN2|neurogenic acroosteolysis|Giaccai type acroosteolysis|autosomal recessive sensory radicular neuropathy|hereditary sensory radicular neuropathy, recessive form|hereditary sensory and autonomic neuropathy type II	http://purl.obolibrary.org/obo/MONDO_0019941	Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia.	UMLS:C0270914|SNOMEDCT:398148000|ORPHA:970|DOID:0070161
UBERON:0002177	right main bronchus	biolink:AnatomicalEntity	mondo			right primary bronchus|right bronchus|right major bronchus|bronchus principalis dexter|right principal bronchus	http://purl.obolibrary.org/obo/UBERON_0002177	The main bronchus on the right side.	
ECTO:9000433	polycyclic arene exposure	biolink:OntologyClass	mondo			exposure to polycyclic arene	http://purl.obolibrary.org/obo/ECTO_9000433	An exposure to polycyclic arene.	
MONDO:0020927	postaxial polydactyly	biolink:Disease	mondo	OMIMPS:174200			http://purl.obolibrary.org/obo/MONDO_0020927		
UBERON:0002178	left main bronchus	biolink:AnatomicalEntity	mondo			left major bronchus|bronchus principalis sinister|left principal bronchus|left primary bronchus|left bronchus	http://purl.obolibrary.org/obo/UBERON_0002178	The main bronchus on the left side.	
MONDO:0032904	corneal dystrophy, Meesmann, 2	biolink:Disease	mondo	OMIM:618767		CORNEAL DYSTROPHY, MEESMANN, 2; MECD2	http://purl.obolibrary.org/obo/MONDO_0032904		http://identifiers.org/omim/618767
MONDO:0032905	spastic paraplegia 81, autosomal recessive	biolink:Disease	mondo	OMIM:618768		SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81	http://purl.obolibrary.org/obo/MONDO_0032905		http://identifiers.org/omim/618768
MONDO:0032902	Joubert syndrome 36	biolink:Disease	mondo	OMIM:618763		JOUBERT SYNDROME 36; JBTS36	http://purl.obolibrary.org/obo/MONDO_0032902		http://identifiers.org/omim/618763
MONDO:0032903	arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum	biolink:Disease	mondo	OMIM:618766		arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum|Zain Syndrome|AMCNACC	http://purl.obolibrary.org/obo/MONDO_0032903		http://identifiers.org/omim/618766
MONDO:0005369	carcinoid tumor (disease)	biolink:Disease	mondo	EFO:0004243|GARD:0009316|ICD9:209.60|HP:0100570|MESH:D002276|NCIT:C2915|SCTID:443492008|ICDO:8241/3|ICDO:8240/3		NET G1|neuroendocrine tumor G1|carcinoid tumor|carcinoid|neuroendocrine neoplasm G1	http://purl.obolibrary.org/obo/MONDO_0005369	A slow growing neuroendocrine tumor, composed of uniform, round, or polygonal cells having monotonous, centrally located nuclei and small nucleoli, infrequent mitoses, and no necrosis. The tumor may show a variety of patterns, such as solid, trabecular, and acinar. Electron microscopy shows small secretory granules. Immunohistochemical studies reveal NSE, as well as chromogranin immunoreactivity. Malignant histology (cellular pleomorphism, hyperchromatic nuclei, prominent nucleoli, necrosis, and mitoses) can occasionally be seen. Such cases may have an aggressive clinical course. Gastrointestinal tract and lung are common sites of involvement.	SNOMEDCT:443492008|MESH:D002276|NCIT:C2915
MONDO:0032900	neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements	biolink:Disease	mondo	OMIM:618760		NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM	http://purl.obolibrary.org/obo/MONDO_0032900		http://identifiers.org/omim/618760
MONDO:0032901	Catifa syndrome	biolink:Disease	mondo	OMIM:618761		Cleft Lip, Cataract, Tooth Abnormality, Impaired Intellectual Development, Facial Dysmorphism, and Attention-Deficit Hyperactivity Disorder|CATIFA SYNDROME; CATIFA	http://purl.obolibrary.org/obo/MONDO_0032901		http://identifiers.org/omim/618761
MONDO:0005368	obsolete obsessive-compulsive disorder	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005368		
HGNC:25009	UBE2T	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25009		
MONDO:0005365	hearing loss disorder	biolink:Disease	mondo	UMLS:C1384666|ICD10:H90|ICD9:389|ICD9:389.9|MESH:D034381|COHD:377889|EFO:0004238|SCTID:15188001|ICD9:389.8|NCIT:C35731		hypoacusis|hearing impairment|hearing loss|deafness|loss of hearing|hypoacuses|loss, hearing	http://purl.obolibrary.org/obo/MONDO_0005365	A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central.	MESH:D034381|SNOMEDCT:15188001|NCIT:C35731|UMLS:C1384666
MONDO:0005364	Graves disease	biolink:Disease	mondo	SCTID:353295004|DOID:12361|EFO:0004237|ICD10:E05.0|ICD9:242.0|MESH:D006111|GARD:0006549|NCIT:C3071	gard_rare	exophthalmic goiter|Graves' disease|Basedow's disease|grave's disease|Graves disease|Graves' hyperthyroidism|Basedow disease|parry disease	http://purl.obolibrary.org/obo/MONDO_0005364	Graves' disease is an autoimmune disorder that leads to overactivity of the thyroid gland (hyperthyroidism).It is caused by an abnormal immune system response that causes the thyroid gland to produce too much thyroid hormones. Graves disease is the most common cause of hyperthyroidism andoccurs mostoften in women over age 20. However, the disorder may occur at any age and may affect males as well.Treatmentmayinclude radioiodine therapy, antithyroid drugs, and/or thyroid surgery.	NCIT:C3071|SNOMEDCT:353295004|MESH:D006111|DOID:12361
ECTO:9000409	salt exposure	biolink:OntologyClass	mondo			exposure to salt	http://purl.obolibrary.org/obo/ECTO_9000409	An exposure to salt.	
MONDO:0005367	heroin dependence	biolink:Disease	mondo	DOID:9976|EFO:0004240|NCIT:C34694|MESH:D006556|SCTID:231477003|UMLS:CN236651		Heroin addiction	http://purl.obolibrary.org/obo/MONDO_0005367	Physical and psychological dependence on the drug heroin.	MESH:D006556|SNOMEDCT:231477003|DOID:9976|NCIT:C34694|UMLS:CN236651
MONDO:0005366	chronic hepatitis B virus infection	biolink:Disease	mondo	MESH:D019694|EFO:0004239|UMLS:C0524909		hepatitis B, chronic|hepatitis B infection, chronic|chronic Hepatitis B	http://purl.obolibrary.org/obo/MONDO_0005366	Chronic form of hepatitis B infection.	UMLS:C0524909|MESH:D019694
MONDO:0005361	eosinophilic esophagitis	biolink:Disease	mondo	MESH:D057765|NCIT:C27105|ICD10:K20.0|SCTID:235599003|MedDRA:10064212|UMLS:C0341106|COHD:27918|Orphanet:73247|ICD9:530.13|ICD10:K20|EFO:0004232|DOID:13922	ordo_disease	EoE	http://purl.obolibrary.org/obo/MONDO_0005361	Eosinophilic esophagitis (EoE) is a chronic, allergic disease of the esophagus characterized clinically by symptoms of esophageal dysfunction (including vomiting, dysphagia, feeding disorders, food impaction and abdominal pain) which persist after treatment with proton pump inhibitors (PPIs).	SNOMEDCT:235599003|MESH:D057765|ORPHA:73247|MEDDRA:10064212|UMLS:C0341106|NCIT:C27105|DOID:13922
MONDO:0032908	CEBALID syndrome	biolink:Disease	mondo	OMIM:618774		CEBALID SYNDROME; CEBALID|Craniofacial Defects, Dysmorphic Ears, Structural Brain Abnormalities, Expressive Language Delay, and Impaired Intellectual Development	http://purl.obolibrary.org/obo/MONDO_0032908		http://identifiers.org/omim/618774
MONDO:0005360	obsolete Dupuytren contracture (disease)	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005360		
MONDO:0032909	mitochondrial complex 3 deficiency, nuclear type 10	biolink:Disease	mondo	OMIM:618775		MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10	http://purl.obolibrary.org/obo/MONDO_0032909		http://identifiers.org/omim/618775
MONDO:0005363	focal segmental glomerulosclerosis	biolink:Disease	mondo	SCTID:236403004|DOID:1312|EFO:0004236|ICD9:582.1|GARD:0006517|OMIMPS:603278|UMLS:CN043606|NCIT:C37308|MESH:D005923		FSGS|focal glomerulosclerosis|focal glomerular sclerosis|FGS|FGS (focal glomerular sclerosis)|FSGS - focal segmental glomerulosclerosis	http://purl.obolibrary.org/obo/MONDO_0005363	A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure.	MESH:D005923|NCIT:C37308|UMLS:CN043606|SNOMEDCT:236403004|DOID:1312
MONDO:0032906	spastic paraplegia 82, autosomal recessive	biolink:Disease	mondo	OMIM:618770		SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82	http://purl.obolibrary.org/obo/MONDO_0032906		http://identifiers.org/omim/618770
MONDO:0005362	erectile dysfunction (disease)	biolink:Disease	mondo	NCIT:C34801|MESH:D007172|SCTID:397803000|EFO:0004234|DOID:1875|HP:0000802		sexual impotence, Male|male erectile Disorder|sexual impotence (finding)|dysfunction, erectile|impotence|sexual impotence|impotence, male|impotence, male sexual|erectile dysfunction|male impotence|male sexual impotence	http://purl.obolibrary.org/obo/MONDO_0005362	Persistent or recurrent inability to achieve or to maintain an erection during sexual activity.	DOID:1875|NCIT:C3133|NCIT:C34801|MESH:D007172|SNOMEDCT:397803000
MONDO:0032907	lymphatic malformation 8	biolink:Disease	mondo	OMIM:618773		LYMPHATIC MALFORMATION 8; LMPHM8	http://purl.obolibrary.org/obo/MONDO_0032907		http://identifiers.org/omim/618773
ECTO:9000404	nitrogen molecular entity exposure	biolink:OntologyClass	mondo			exposure to nitrogen molecular entity	http://purl.obolibrary.org/obo/ECTO_9000404	An exposure to nitrogen molecular entity.	
MONDO:0020999	obsolete genetic chronic primary adrenal insufficiency	biolink:Disease	mondo	Orphanet:101960	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0020999		ORPHA:101960
MONDO:0017358	obsolete organic aciduria	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0017358		
MONDO:0017359	3-methylglutaconic aciduria	biolink:Disease	mondo	MESH:C579867|SCTID:237950009|OMIMPS:250950|NCIT:C98678|ICD10:E71.1|ICD10:E71.111|DOID:0060336|UMLS:C3696376|Orphanet:289902	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017359	A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine.	DOID:0060336|NCIT:C98678|ORPHA:289902|UMLS:C3696376|MESH:C579867|SNOMEDCT:237950009
MONDO:0017354	infantile glycine encephalopathy	biolink:Disease	mondo	Orphanet:289860|ICD10:E72.5	ordo_clinical_subtype	infantile NKH|infantile non-ketotic hyperglycinemia|glycine encephalopathy of infancy|infantile onset glycine encephalopathy	http://purl.obolibrary.org/obo/MONDO_0017354	Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE), characterized by early hypotonia, developmental delay and seizures.	ORPHA:289860
MONDO:0017355	inborn disorder of proline metabolism	biolink:Disease	mondo	ICD10:E72.8|Orphanet:289866|UMLS:CN227118	ordo_group_of_disorders	rare inborn error of proline metabolic process|inborn proline metabolic process disorder|rare inborn error of proline metabolic process|disorder of proline metabolism|inborn error of proline metabolic process	http://purl.obolibrary.org/obo/MONDO_0017355	An acquired metabolic disease that is has its basis in the disruption of proline metabolic process.	ORPHA:289866|UMLS:CN227118
HGNC:15685	B4GAT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15685		
MONDO:0017356	inborn disorder of ornithine metabolism	biolink:Disease	mondo	ICD10:E72.4|Orphanet:289869|UMLS:C0342690|SCTID:237928008	ordo_group_of_disorders	rare inborn error of ornithine metabolic process|inborn error of ornithine metabolic process|rare inborn error of ornithine metabolic process|inborn ornithine metabolic process disorder|disorder of ornithine metabolism	http://purl.obolibrary.org/obo/MONDO_0017356	An acquired metabolic disease that is has its basis in the disruption of ornithine metabolic process.	ORPHA:289869|UMLS:C0342690|SNOMEDCT:237928008
MONDO:0017357	transient hyperammonemia of the newborn	biolink:Disease	mondo	UMLS:CN203020|ICD10:P74.8|Orphanet:289877	ordo_clinical_situation		http://purl.obolibrary.org/obo/MONDO_0017357		ORPHA:289877|UMLS:CN203020
MONDO:0017350	inborn disorder of tryptophan metabolism	biolink:Disease	mondo	SCTID:5181007|ICD9:270.2|UMLS:CN203012|ICD10:E70.8|Orphanet:289829	ordo_group_of_disorders	inborn tryptophan metabolic process disorder|rare inborn error of tryptophan metabolic process|inborn error of tryptophan metabolic process|rare inborn error of tryptophan metabolic process|disorder of tryptophan metabolism	http://purl.obolibrary.org/obo/MONDO_0017350	An acquired metabolic disease that is has its basis in the disruption of tryptophan metabolic process.	SNOMEDCT:5181007|UMLS:CN203012|ORPHA:289829
MONDO:0017351	inborn disorder of lysine and hydroxylysine metabolism	biolink:Disease	mondo	ICD10:E72.3|ICD9:270.8|SCTID:237929000|ICD9:270.7|Orphanet:289832	ordo_group_of_disorders	disorder of lysine and hydroxylysine metabolism	http://purl.obolibrary.org/obo/MONDO_0017351		SNOMEDCT:237929000|ORPHA:289832
MONDO:0017352	disorder of glutamine metabolism	biolink:Disease	mondo	ICD10:E72.8|ICD9:270.7|SCTID:190724004|Orphanet:289841|UMLS:C0342669	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017352		SNOMEDCT:190724004|ORPHA:289841|UMLS:C0342669
MONDO:0017353	neonatal glycine encephalopathy	biolink:Disease	mondo	ICD10:E72.5|Orphanet:289857	ordo_clinical_subtype	classic glycine encephalopathy|neonatal NKH|neonatal non-ketotic hyperglycinemia	http://purl.obolibrary.org/obo/MONDO_0017353	Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.	ORPHA:289857
MONDO:0032915	long QT syndrome 16	biolink:Disease	mondo	OMIM:618782		Ventricular Tachycardia, Catecholaminergic Polymorphic 6|LONG QT SYNDROME 16; LQT16	http://purl.obolibrary.org/obo/MONDO_0032915		http://identifiers.org/omim/618782
HGNC:25018	TMEM216	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/25018		
MONDO:0032916	Imagawa-Matsumoto syndrome	biolink:Disease	mondo	OMIM:618786		IMAGAWA-MATSUMOTO SYNDROME; IMMAS	http://purl.obolibrary.org/obo/MONDO_0032916		http://identifiers.org/omim/618786
MONDO:0032913	congenital heart defects, multiple types, 7	biolink:Disease	mondo	OMIM:618780		CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7	http://purl.obolibrary.org/obo/MONDO_0032913		http://identifiers.org/omim/618780
MONDO:0032914	ciliary dyskinesia, primary, 44	biolink:Disease	mondo	OMIM:618781		Ciliary Dyskinesia, Primary, 44, Without Situs Inversus|CILIARY DYSKINESIA, PRIMARY, 44; CILD44	http://purl.obolibrary.org/obo/MONDO_0032914		http://identifiers.org/omim/618781
MONDO:0032911	deafness, autosomal dominant 75	biolink:Disease	mondo	OMIM:618778		DEAFNESS, AUTOSOMAL DOMINANT 75; DFNA75	http://purl.obolibrary.org/obo/MONDO_0032911		http://identifiers.org/omim/618778
MONDO:0005379	neurotic disorder	biolink:Disease	mondo	COHD:444243|SCTID:111475002|DOID:4964|NCIT:C34848|ICD9:300.9|ICD9:300.89|ICD10:F34.1|ICD10:F48.9|EFO:0004257|MESH:D009497		neurotic depressive state|psychoneurosis NOS|disorders, neurotic|Psychoneuroses|disorder, neurotic|neurotic depression reactive type|neurotic depression|neuroses|psychoneurosis|neurotic disorder|neurosis|reactive depression|depressive neurosis	http://purl.obolibrary.org/obo/MONDO_0005379	A form of functional mental illness that manifests in distressed emotional reactions such as anxiety, obsessive thoughts, compulsive behaviors, or irrational fears.	SNOMEDCT:111475002|MESH:D009497|NCIT:C34848|DOID:4964
MONDO:0032912	Coffin-Siris syndrome 11	biolink:Disease	mondo	OMIM:618779		COFFIN-SIRIS SYNDROME 11; CSS11	http://purl.obolibrary.org/obo/MONDO_0032912		http://identifiers.org/omim/618779
MONDO:0032910	mitochondrial complex 1 deficiency, nuclear type 34	biolink:Disease	mondo	OMIM:618776		MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34	http://purl.obolibrary.org/obo/MONDO_0032910		http://identifiers.org/omim/618776
MONDO:0005376	membranous glomerulonephritis	biolink:Disease	mondo	ICD9:583.1|UMLS:C0017665|MESH:D015433|ICD9:582.1|ICD10:N03.2|SCTID:77182004|DOID:10976|EFO:0004254|COHD:252365|NCIT:C34645		membranous nephropathy|membranous Glomerulonephropathy	http://purl.obolibrary.org/obo/MONDO_0005376	A slowly progressive inflammation of the glomeruli characterized by immune complex deposits at the glomerular basement membrane, resulting in a thickened membrane, and nephrotic syndrome.	UMLS:C0017665|DOID:10976|MESH:D015433|NCIT:C34645|SNOMEDCT:77182004
MONDO:0005375	nasopharyngeal neoplasm	biolink:Disease	mondo	NCIT:C3257|UMLS:C0027439|MESH:D009303|SCTID:126680004|EFO:0004252		nasopharynx neoplasm (disease)|tumor of nasopharynx|neoplasm of the nasopharynx|nasopharyngeal tumor|nasopharynx tumor|neoplasm of nasopharynx|nasopharynx neoplasm|tumor of the nasopharynx|nasopharyngeal neoplasms	http://purl.obolibrary.org/obo/MONDO_0005375	A benign or malignant neoplasm affecting the nasopharynx. Representative examples of benign neoplasms include angiofibroma and squamous papilloma. Representative examples of malignant neoplasms include keratinizing squamous cell carcinoma and nonkeratinizing carcinoma.	NCIT:C3257|UMLS:C0027439|SNOMEDCT:126680004|MESH:D009303
MONDO:0005378	obsolete neuromyelitis optica	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005378		
MONDO:0005377	nephrotic syndrome	biolink:Disease	mondo	MESH:D009404|COHD:195314|ICD9:581|ICD10:N04|SCTID:52254009|NCIT:C34845|UMLS:C0027726|ICD9:581.9|DOID:1184|EFO:0004255		syndrome, nephrotic|Finnish congenital nephrosis|syndromes, nephrotic|nephrotic syndrome|nephrotic syndromes|nephrosis	http://purl.obolibrary.org/obo/MONDO_0005377	A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction.	UMLS:C0027726|MESH:D009404|NCIT:C34845|SNOMEDCT:52254009|DOID:1184
MONDO:0005372	male infertility	biolink:Disease	mondo	ICD9:606|SCTID:2904007|UMLS:C0021364|DOID:12336|ICD9:606.9|EFO:0004248|ICD10:N46.9|MESH:D007248|COHD:198197|ICD10:N46		infertility disorder of male reproductive system|male reproductive system infertility disorder|male reproductive system infertility	http://purl.obolibrary.org/obo/MONDO_0005372	The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.	MESH:D007248|SNOMEDCT:2904007|DOID:12336|UMLS:C0021364
MONDO:0032919	intellectual developmental disorder 62	biolink:Disease	mondo	OMIM:618793		Mental Retardation, Autosomal Dominant 62|INTELLECTUAL DEVELOPMENTAL DISORDER 62; MRD62	http://purl.obolibrary.org/obo/MONDO_0032919		http://identifiers.org/omim/618793
MONDO:0005371	mood disorder	biolink:Disease	mondo	MESH:D019964|DOID:3324|EFO:0004247|ICD9:296.99|UMLS:CN236678|NCIT:C92200|ICD10:F30-F39|ICD10:F30.F39|SCTID:46206005|COHD:444100|ICD10:F39		episodic mood disorder	http://purl.obolibrary.org/obo/MONDO_0005371	A cognitive disorder a disturbance in which the person's mood is hypothesized to be the main underlying feature.	SNOMEDCT:46206005|NCIT:C92200|DOID:3324|UMLS:CN236678|MESH:D019964
MONDO:0005374	bone marrow neoplasm	biolink:Disease	mondo	ICD10:D47.1|UMLS:C0282609|SCTID:414824005|ICD9:238.79|DOID:4960|MESH:D019046|NCIT:C35370		bone marrow neoplasm (disease)|malignant bone marrow tumor|neoplasm of bone marrow|bone marrow cancer|tumor of bone marrow|bone marrow tumor|bone marrow neoplasm|malignant neoplasm of bone marrow	http://purl.obolibrary.org/obo/MONDO_0005374	Neoplasms that affect the bone marrow. Such neoplasms may arise in the bone marrow (e.g. myeloid leukemias) or may involve the bone marrow as secondary, metastatic tumors (e.g. metastatic carcinomas to the bone marrow).	SNOMEDCT:414824005|NCIT:C35370|UMLS:C0282609|MESH:D019046|DOID:4960
MONDO:0032917	deafness, autosomal dominant 76	biolink:Disease	mondo	OMIM:618787		DEAFNESS, AUTOSOMAL DOMINANT 76; DFNA76	http://purl.obolibrary.org/obo/MONDO_0032917		http://identifiers.org/omim/618787
MONDO:0032918	developmental and epileptic encephalopathy, 84	biolink:Disease	mondo	OMIM:618792		Jamuar Syndrome|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 84; EIEE84|DEE84|epileptic encephalopathy, early infantile, 84	http://purl.obolibrary.org/obo/MONDO_0032918		http://identifiers.org/omim/618792
MONDO:0005373	meningococcal infection	biolink:Disease	mondo	SCTID:23511006|UMLS:C0025303|MESH:D008589|ICD9:036|ICD9:036.9|ICD9:036.89|EFO:0004249|ICD10:A39|GARD:0009547|GARD:0007169	gard_rare	meningococcal disease|Neisseria meningitidis infection|infections, Neisseria meningitidis	http://purl.obolibrary.org/obo/MONDO_0005373	Infections with bacteria of the species neisseria meningitidis.	SNOMEDCT:23511006|UMLS:C0025303|MESH:D008589
MONDO:0005370	obsolete interstitial lung disease	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005370		
MONDO:0020989	hereditary persistence of fetal hemoglobin	biolink:Disease	mondo	ICD9:282.7|SCTID:191201002|NCIT:C129072|UMLS:C0019025		Hereditary persistence of fetal hemoglobin|Hemoglobin F Disease|Hb F disease|HEREDITARY PERSISTENCE of FETAL HEMOGLOBIN|hereditary persistence of fetal hemoglobin|HPFH - Hereditary persistence of fetal hemoglobin|Hereditary Persistence of Fetal Hemoglobin|Disease, Hemoglobin F|HEMOGLOBIN F DIS	http://purl.obolibrary.org/obo/MONDO_0020989	The persistence of substantial fetal hemoglobin production into adulthood, usually associated with hemoglobinopathies due to mutations in the alpha and/or beta chain of hemoglobin.	NCIT:C129072|UMLS:C0019025|SNOMEDCT:191201002
MONDO:0017347	plasmablastic lymphoma	biolink:Disease	mondo	UMLS:C3472614|MESH:D000069293|MedDRA:10065039|SCTID:724648008|ICD10:C83.3|ICDO:9735/3|NCIT:C7224|ONCOTREE:PLBL|Orphanet:289666|GARD:0012125|ICDO:9684/3	ordo_disease|gard_rare	PBL|Plasmablastic lymphoma|PLBL	http://purl.obolibrary.org/obo/MONDO_0017347	An aggressive diffuse large B-cell lymphoma frequently arising in the setting of HIV infection and characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells. Sites of involvement include the oral cavity, sinonasal cavity, skin, soft tissues, gastrointestinal tract, and bone.	ORPHA:289666|UMLS:C3472614|MEDDRA:10065039|MESH:D000069293|SNOMEDCT:724648008|NCIT:C7224
MONDO:0017348	lymphoepithelial-like carcinoma	biolink:Disease	mondo	Orphanet:289682	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017348	Lymphoepithelial-like carcinoma is a rare, malignant epithelial tumor, composed of undifferentiated epithelial cells with dense lymphoid stroma, mimicking lymphoepithelioma. It often shows association with Epstein-Barr virus infection and can develop in various organs, such as the nasopharynx, stomach, skin, breast and lungs, among others. The presenting symptoms, as well as the radiologic features, are usually nonspecific and depend on the affected site and organ.	ORPHA:289682
MONDO:0017349	myopericytoma	biolink:Disease	mondo	Orphanet:289685|NCIT:C50401|ICDO:8713/1|ONCOTREE:MPC|UMLS:C1302808	ordo_disease	MPC|hemangiopericytoma|solitary myofibroma	http://purl.obolibrary.org/obo/MONDO_0017349	A usually slow growing, subcutaneous nodular neoplasm arising from myopericytes. It is composed of myoid cells arranged in a perivascular growth pattern. The vast majority of cases have a benign clinical course.	ORPHA:289685|NCIT:C50401|UMLS:C1302808
MONDO:0017343	Epstein-Barr virus-associated malignant lymphoproliferative disorder	biolink:Disease	mondo	MedDRA:10068349|UMLS:C2363744|Orphanet:289644	ordo_group_of_disorders	EBV-associated lymphoproliferative disorder	http://purl.obolibrary.org/obo/MONDO_0017343		ORPHA:289644|MEDDRA:10068349|UMLS:C2363744
MONDO:0017344	Epstein-Barr virus-associated carcinoma	biolink:Disease	mondo	Orphanet:289651	ordo_group_of_disorders	EBV-associated carcinoma	http://purl.obolibrary.org/obo/MONDO_0017344		ORPHA:289651
MONDO:0017345	Epstein-Barr virus-associated mesenchymal tumor	biolink:Disease	mondo	UMLS:CN203006|Orphanet:289656	ordo_group_of_disorders	EBV-associated mesenchymal tumor	http://purl.obolibrary.org/obo/MONDO_0017345		ORPHA:289656|UMLS:CN203006
HGNC:13030	ZBTB18	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13030		
MONDO:0017346	Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly	biolink:Disease	mondo	Orphanet:289661|SCTID:716788007|UMLS:C2700007|ICDO:9680/3|NCIT:C80281|ICD10:C83.3	ordo_disease	EBV Positive diffuse large B-cell lymphoma of the elderly|Senile EBV-associated B-cell lymphoproliferative disorder|age-related EBV Positive B-cell lymphoproliferative disorder|EBV-positive DLBCL, NOS|Epstein-Barr Virus Positive DLBCL, NOS|Epstein-Barr Virus-positive diffuse large B-cell lymphoma, not otherwise specified|EBV-positive DLBCL of the elderly|EBV-positive diffuse large B-cell lymphoma, not otherwise specified|EBV-Positive diffuse large B-cell lymphoma, NOS|Epstein-Barr Virus Positive diffuse large B-cell lymphoma of the elderly	http://purl.obolibrary.org/obo/MONDO_0017346	Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly is a rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such as the stomach, lung, skin and pancreas) and B symptoms (fever, night sweats, weight loss). The tumor is characterized by an aggressive course and a short survival rate.	ORPHA:289661|SNOMEDCT:716788007|UMLS:C2700007|NCIT:C80281
MONDO:0017340	juvenile nasopharyngeal angiofibroma (disease)	biolink:Disease	mondo	ICD10:D10.6|HP:0030429|SCTID:716590006|UMLS:CN202999|NCIT:C27479|UMLS:C1367536|Orphanet:289596	ordo_disease	JNA|nasopharyngeal angiofibroma|nasopharyngeal juvenile angiofibroma|juvenile nasopharyngeal angiofibroma	http://purl.obolibrary.org/obo/MONDO_0017340	Juvenile nasopharyngeal angiofibroma (JNA) is a rare and benign but locally aggressive fibrovascular tumor arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures.	UMLS:CN202999|SNOMEDCT:716590006|UMLS:C1367536|NCIT:C27479|ORPHA:289596
MONDO:0017341	virus associated tumor	biolink:Disease	mondo	Orphanet:289635|UMLS:CN203003	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017341		ORPHA:289635|UMLS:CN203003
MONDO:0017342	Epstein-Barr virus-related tumor	biolink:Disease	mondo	Orphanet:289638|UMLS:CN203004	ordo_group_of_disorders	EBV-related tumor	http://purl.obolibrary.org/obo/MONDO_0017342		ORPHA:289638|UMLS:CN203004
MONDO:0032926	sandestig-stefanova syndrome	biolink:Disease	mondo	OMIM:618804		SANDESTIG-STEFANOVA SYNDROME; SANDSTEF	http://purl.obolibrary.org/obo/MONDO_0032926		http://identifiers.org/omim/618804
ECTO:0000007	exposure to visible spectrum radiation	biolink:OntologyClass	mondo			visible spectrum radiation exposure	http://purl.obolibrary.org/obo/ECTO_0000007	A exposure event involving the interaction of an exposure receptor to visible spectrum radiation.	
ECTO:0000006	exposure to ultraviolet radiation	biolink:OntologyClass	mondo			ultraviolet radiation exposure	http://purl.obolibrary.org/obo/ECTO_0000006	A exposure event involving the interaction of an exposure receptor to ultraviolet radiation.	
MONDO:0032927	triokinase and FMN cyclase deficiency syndrome	biolink:Disease	mondo	OMIM:618805		TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD	http://purl.obolibrary.org/obo/MONDO_0032927		http://identifiers.org/omim/618805
MONDO:0032924	ciliary dyskinesia, primary, 45	biolink:Disease	mondo	OMIM:618801		CILIARY DYSKINESIA, PRIMARY, 45; CILD45|Ciliary Dyskinesia, Primary, 45, Without Situs Inversus	http://purl.obolibrary.org/obo/MONDO_0032924		http://identifiers.org/omim/618801
MONDO:0032925	respiratory papillomatosis, juvenile recurrent, congenital	biolink:Disease	mondo	OMIM:618803		RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL; JRRP	http://purl.obolibrary.org/obo/MONDO_0032925		http://identifiers.org/omim/618803
MONDO:0005347	hypertriglyceridemia (disease)	biolink:Disease	mondo	EFO:0004211|UMLS:C0020557|SCTID:302870006|HP:0002155|MESH:D015228		hypertriglyceridemia	http://purl.obolibrary.org/obo/MONDO_0005347	A laboratory test result indicating elevated triglyceride concentration in the blood.	MESH:D015228|UMLS:C0020557|SNOMEDCT:302870006|NCIT:C37971
MONDO:0032922	Beck-Fahrner syndrome	biolink:Disease	mondo	OMIM:618798		BECK-FAHRNER SYNDROME; BEFAHRS	http://purl.obolibrary.org/obo/MONDO_0032922		http://identifiers.org/omim/618798
MONDO:0032923	spinocerebellar ataxia, autosomal recessive 28	biolink:Disease	mondo	OMIM:618800		SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28	http://purl.obolibrary.org/obo/MONDO_0032923		http://identifiers.org/omim/618800
MONDO:0005346	gallstones	biolink:Disease	mondo	EFO:0004210|SCTID:235919008|MESH:D042882|ICD9:574.20			http://purl.obolibrary.org/obo/MONDO_0005346	Solid crystalline precipitates in the biliary tract, usually formed in the gallbladder, resulting in the condition of cholelithiasis. Gallstones, derived from the bile, consist mainly of calcium, cholesterol, or bilirubin.	SNOMEDCT:235919008|MESH:D042882
MONDO:0005349	otosclerosis (disease)	biolink:Disease	mondo	ICD10:H80.80|SCTID:11543004|OMIMPS:166800|ICD9:387.8|HP:0000362|DOID:12185|EFO:0004213|ICD9:387|COHD:439035|UMLS:C0029899|MESH:D010040|ICD10:H80.8|ICD9:387.9		otosclerosis	http://purl.obolibrary.org/obo/MONDO_0005349	Formation of spongy bone in the labyrinth capsule which can progress toward the stapes (stapedial fixation) or anteriorly toward the cochlea leading to conductive, sensorineural, or mixed hearing loss. Several genes are associated with familial otosclerosis with varied clinical signs.	MESH:D010040|SNOMEDCT:11543004|DOID:12185|UMLS:C0029899
MONDO:0032920	juvenile arthritis due to defect in LACC1	biolink:Disease	mondo	OMIM:618795		JUVENILE ARTHRITIS; JUVAR	http://purl.obolibrary.org/obo/MONDO_0032920		http://identifiers.org/omim/618795
MONDO:0005348	keloid	biolink:Disease	mondo	EFO:0004212|MESH:D007627|NCIT:C3145|SCTID:33659008|ICD9:701.4			http://purl.obolibrary.org/obo/MONDO_0005348	An irregularly shaped, elevated mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It extends beyond the original boundaries of the wound and may enlarge progressively.	MESH:D007627|NCIT:C3145|SNOMEDCT:33659008
MONDO:0032921	neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation	biolink:Disease	mondo	OMIM:618797		NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT	http://purl.obolibrary.org/obo/MONDO_0032921		http://identifiers.org/omim/618797
MONDO:0005343	obsolete viral human hepatitis	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005343		
MONDO:0020983	myocardial rupture	biolink:Disease	mondo	GARD:0010468|MESH:D006341|UMLS:C0018813	gard_rare	Cardiac Free Wall Rupture|Myocardial Rupture|Free Wall Rupture, Heart|Rupture of heart|Heart Ruptures|Heart Rupture|Ventricular Free Wall Rupture|Cardiac Ruptures|Cardiac Rupture	http://purl.obolibrary.org/obo/MONDO_0020983	Disease-related laceration or tearing of tissues of the heart, including the free-wall MYOCARDIUM; HEART SEPTUM; PAPILLARY MUSCLES; CHORDAE TENDINEAE; and any of the HEART VALVES. Pathological rupture usually results from myocardial infarction (HEART RUPTURE, POST-INFARCTION).	MESH:D006341|UMLS:C0018813
MONDO:0005342	IgA glomerulonephritis	biolink:Disease	mondo	ICD9:583.9|OMIMPS:161950|SCTID:68779003|UMLS:C0017661|EFO:0004194|DOID:2986|NCIT:C34643|MESH:D005922		berger's IgA or IgG nephropathy|IgA nephropathy|IgA glomerulonephritis|primary IgA nephropathy|berger's disease|segmental glomerulonephritis|focal glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0005342	Inflammation of a specific segment of glomeruli within the kidney.	DOID:2986|MESH:D005922|UMLS:C0017661|SNOMEDCT:68779003|NCIT:C34643
MONDO:0005345	hypospadias (disease)	biolink:Disease	mondo	ICD10:Q54.2|ICD10:Q54.1|MESH:D007021|ICD10:Q54.0|UMLS:C0848558|COHD:196528|NCIT:C40341|ICD9:752.61|HP:0000047|OMIMPS:300633|Orphanet:440|EFO:0004209|SCTID:416010008|ICD10:Q54.8|ICD10:Q54|DOID:10892|ICD10:Q54.9|ICD10:Q54.4|UMLS:CN205090|ICD10:Q54.3|GARD:0002929	ordo_morphological_anomaly	familial hypospadias|hypospadias|hypospadias familial	http://purl.obolibrary.org/obo/MONDO_0005345	Hypospadias is the displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce.	UMLS:CN205090|UMLS:C0848558|DOID:10892|NCIT:C40341|SNOMEDCT:416010008|MESH:D007021|ORPHA:440
MONDO:0005344	hepatitis B virus infection	biolink:Disease	mondo	SCTID:66071002|DOID:2043|EFO:0004197|UMLS:C0019163|MESH:D006509|ICD9:070.30|NCIT:C3097		Hepatitis B infection|Hepatitis B virus caused hepatitis|Hepatitis B|chronic hepatitis B|Hepatitis B virus hepatitis|viral Hepatitis B|serum hepatitis|hepatitis type B|hepatitis B infection	http://purl.obolibrary.org/obo/MONDO_0005344	A viral infection caused by the hepatitis B virus.	DOID:2043|UMLS:C0019163|MESH:D006509|NCIT:C3097|SNOMEDCT:66071002
MONDO:0020980	hair nevus	biolink:Disease	mondo	SCTID:201161009|NCIT:C3074|UMLS:C0018508		Hairy nevus|hairy nevus|nevoid hypertrichosis|Nevoid Hypertrichosis|hair nevus|Hairy Nevus|Hair nevus|Hair Nevus|Nevoid hypertrichosis|nevoid hypertrichosis	http://purl.obolibrary.org/obo/MONDO_0020980	A usually benign congenital skin growth that is often pigmented and sometimes develop coarse surface hair. There is a lifetime risk of transformation to malignant melanoma which varies depending on the size of the lesion.	SNOMEDCT:201161009|UMLS:C0018508|NCIT:C3074
MONDO:0005341	skin basal cell carcinoma	biolink:Disease	mondo	CSP:2000-2719|ONCOTREE:BCC|ICDO:8090/3|UMLS:C0206710|KEGG:05217|UMLS:C0751676|UMLS:C0007117|HP:0002671|SCTID:254701007|COHD:4112752|DOID:2513|EFO:0004193|NCIT:C2921		basal cell skin carcinoma|basal cell carcinoma NOS (morphologic abnormality)|basal cell carcinoma|basal cell carcinoma of the skin|basal cell epithelioma|skin basal cell carcinoma|basal cell cancer|basal cell neoplasm NOS (morphologic abnormality)|basal cell neoplasm (morphologic abnormality)|malignant basal cell tumor (morphologic abnormality)|epithelioma basal cell|basal cell tumor (morphologic abnormality)|basal cell tumor|basal cell carcinoma of skin|basal cell neoplasm|malignant basal cell neoplasm|malignant basal cell tumor|BCC|skin basal cell cancer	http://purl.obolibrary.org/obo/MONDO_0005341	The most frequently seen skin cancer. It arises from basal cells of the epidermis and pilosebaceous units. Clinically it is divided into the following types: nodular, ulcerative, superficial, multicentric, erythematous, and sclerosing or morphea-like. More than 95% of these carcinomas occur in patients over 40. They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck and the remaining 15% on the trunk and extremities. Basal cell carcinoma usually grows in a slow and indolent fashion. However, if untreated, the tumor may invade the subcutaneous fat, skeletal muscle and bone. Distant metastases are rare. Excision, curettage and irradiation cure most basal cell carcinomas.	DOID:2513|NCIT:C2921|SNOMEDCT:254701007|UMLS:C0007117|UMLS:C0206710|UMLS:C0751676
MONDO:0032928	T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant	biolink:Disease	mondo	OMIM:618806		T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND	http://purl.obolibrary.org/obo/MONDO_0032928		http://identifiers.org/omim/618806
MONDO:0005340	alopecia areata	biolink:Disease	mondo	ICD9:704.01|MESH:D000506|GARD:0005782|DOID:986|EFO:0004192|COHD:141933|SCTID:68225006|ICD10:L63|ICD10:L63.9|UMLS:C0002171		patchy loss of hair|alopecia areata|circumscribed alopecia|alopecia circumscripta|alopecia Circumscripta	http://purl.obolibrary.org/obo/MONDO_0005340	Loss of scalp and body hair involving microscopically inflammatory patchy areas.	UMLS:C0002171|SNOMEDCT:68225006|MESH:D000506|DOID:986
MONDO:0044903	myelofibrosis	biolink:Disease	mondo	NCIT:C3248		myelofibrosis	http://purl.obolibrary.org/obo/MONDO_0044903	A partial or complete replacement of the bone marrow stroma by fibrous tissue. It can be a primary bone marrow lesion as part of the chronic myeloproliferative disorders (chronic idiopathic myelofibrosis), a manifestation of acute myeloid leukemia (acute panmyelosis with myelofibrosis), or a secondary phenomenon due to bone marrow involvement by a metastatic tumor (e.g., metastatic breast carcinoma). --2003	NCIT:C3248
MONDO:0044906	bladder urothelial papilloma	biolink:Disease	mondo	NCIT:C39858		bladder urothelial papilloma|urinary bladder urothelial papilloma|urinary bladder transitional cell papilloma|bladder transitional cell papilloma	http://purl.obolibrary.org/obo/MONDO_0044906	A benign neoplasm of the bladder that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma.	NCIT:C39858
MONDO:0020979	pilosebaceous hamartoma	biolink:Disease	mondo	NCIT:C5565		pilosebaceous hamartoma	http://purl.obolibrary.org/obo/MONDO_0020979	A hamartoma characterized by localized pilosebaceous apparatus malformation.	NCIT:C5565
MONDO:0020977	granulomatous prostatitis	biolink:Disease	mondo	ICD9:601.8|UMLS:C0018204|NCIT:C26789|SCTID:61500009		granulomatous prostatitis|Granulomatous prostatitis|Granulomatous Prostatitis	http://purl.obolibrary.org/obo/MONDO_0020977	An infectious or non-infectious inflammatory process that affects the prostate gland. Infectious causative agents include bacteria, parasites, fungi, and viruses. It is characterized by the formation of granulomas in the prostatic tissue.	NCIT:C26789|SNOMEDCT:61500009|UMLS:C0018204
MONDO:0019999	intestinal malformation	biolink:Disease	mondo	Orphanet:97945	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019999		ORPHA:97945
MONDO:0017336	fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency	biolink:Disease	mondo	ICD10:I42.2|Orphanet:289527	ordo_disease	fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency|fatal infantile hypertrophic cardiomyopathy due to NADH-coenzyme Q reductase deficiency|fatal infantile HCM due to mitochondrial complex I deficiency	http://purl.obolibrary.org/obo/MONDO_0017336		ORPHA:289527
MONDO:0019998	gastroduodenal malformation	biolink:Disease	mondo	Orphanet:97944	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019998		ORPHA:97944
MONDO:0017337	inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	biolink:Disease	mondo	ICD10:E27.1|SCTID:764960005|Orphanet:289548	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017337	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands.	ORPHA:289548|SNOMEDCT:764960005
MONDO:0017338	fatal multiple mitochondrial dysfunctions syndrome	biolink:Disease	mondo	UMLS:CN234684|DOID:0070330|UMLS:C3502075|Orphanet:289573|OMIMPS:605711|SCTID:720827002|GARD:0012632|MESH:C565304|UMLS:CN202994	ordo_group_of_disorders	fatal multiple mitochondrial dysfunction syndrome|MMDS|multiple mitochondrial dysfunctions syndrome	http://purl.obolibrary.org/obo/MONDO_0017338	Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual.	SNOMEDCT:720827002|ORPHA:289573|UMLS:CN234684|DOID:0070330|UMLS:C3502075|UMLS:CN202994|MESH:C565304
MONDO:0020974	laryngeal granuloma	biolink:Disease	mondo	ICD9:478.79|SCTID:72211003|MESH:D006102|UMLS:C0018196		Granuloma, Laryngeal|Laryngeal Granulomas|Granuloma of Larynx|Laryngeal Granuloma|laryngeal granuloma|Laryngeal granuloma|Larynx Granuloma|Larynx Granulomas|Granulomas, Laryngeal	http://purl.obolibrary.org/obo/MONDO_0020974	A tumor-like nodule or mass of inflammatory granulation tissue projecting into the lumen of the LARYNX.	SNOMEDCT:72211003|MESH:D006102|UMLS:C0018196
MONDO:0017339	exfoliative ichthyosis	biolink:Disease	mondo	Orphanet:289586|ICD10:Q80.8|UMLS:C1838440	ordo_disease|clingen	ichthyosis exfoliativa|autosomal recessive exfoliative ichthyosis	http://purl.obolibrary.org/obo/MONDO_0017339	Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.	UMLS:C1838440|ORPHA:289586
MONDO:0019995	peripheral resistance to thyroid hormones	biolink:Disease	mondo	UMLS:C4273673|Orphanet:97927|SCTID:718193005|ICD10:E03.1|GARD:0012734|UMLS:CN206931	ordo_disease|gard_rare		http://purl.obolibrary.org/obo/MONDO_0019995	Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth.	SNOMEDCT:718193005|UMLS:CN206931|UMLS:C4273673|ORPHA:97927
MONDO:0017332	pyoderma gangrenosum-acne-suppurative hidradenitis syndrome	biolink:Disease	mondo	UMLS:CN202977|Orphanet:289478|EFO:0009009	ordo_disease	pash syndrome	http://purl.obolibrary.org/obo/MONDO_0017332		ORPHA:289478|UMLS:CN202977
MONDO:0032930	intellectual developmental disorder with poor growth and with or without seizures or ataxia	biolink:Disease	mondo	OMIM:618808		INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA	http://purl.obolibrary.org/obo/MONDO_0032930		http://identifiers.org/omim/618808
MONDO:0019994	maternal uniparental disomy of chromosome 13	biolink:Disease	mondo	Orphanet:97678|UMLS:CN036719|ICD10:Q99.8	ordo_malformation_syndrome	maternal uniparental disomy of chromosome type 13|UPD(13)mat	http://purl.obolibrary.org/obo/MONDO_0019994	Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.	UMLS:CN036719|ORPHA:97678
MONDO:0017333	hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism	biolink:Disease	mondo	Orphanet:289494|UMLS:CN168056	ordo_group_of_disorders	Pol III-related leukodystrophy	http://purl.obolibrary.org/obo/MONDO_0017333		ORPHA:289494|UMLS:CN168056
MONDO:0017334	12q15q21.1 microdeletion syndrome	biolink:Disease	mondo	UMLS:C4518344|SCTID:734030009|ICD10:Q93.5|UMLS:CN202984|Orphanet:289513	ordo_malformation_syndrome	deletion 12q15q21.1|Del(12)(q15)(q21.1)|monosomy 12q15q21.1	http://purl.obolibrary.org/obo/MONDO_0017334	12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated.	ORPHA:289513|UMLS:C4518344|SNOMEDCT:734030009|UMLS:CN202984
MONDO:0019997	obsolete rare gastroenterologic disease	biolink:Disease	mondo	UMLS:CN206933|Orphanet:97935	ordo_group_of_disorders|obsoletion_candidate		http://purl.obolibrary.org/obo/MONDO_0019997		ORPHA:97935|UMLS:CN206933
MONDO:0017335	microtriplication 11q24.1	biolink:Disease	mondo	ICD10:Q99.8|Orphanet:289522	ordo_malformation_syndrome	tetrasomy 11q24.1	http://purl.obolibrary.org/obo/MONDO_0017335	Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia.	ORPHA:289522
MONDO:0019996	obsolete rare cardiac disease	biolink:Disease	mondo	Orphanet:97929|UMLS:CN206932	ordo_group_of_disorders|obsoletion_candidate	rare heart disease	http://purl.obolibrary.org/obo/MONDO_0019996	Rare heart disease.	UMLS:CN206932|ORPHA:97929
MONDO:0019991	immunotactoid glomerulopathy	biolink:Disease	mondo	SCTID:73305009|ICD10:N03.6|Orphanet:97567|GARD:0012048|NCIT:C96182|ICD9:583.9	ordo_disease|gard_rare	fibrillary glomerulonephritis|Immunotactoid glomerulonephritis|FGN|fibrillary glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0019991	Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) are often grouped together as pathogenetically related diseases.	NCIT:C96182|SNOMEDCT:73305009|ORPHA:97567
MONDO:0019990	non-amyloid fibrillary glomerulopathy	biolink:Disease	mondo	SCTID:718192000|GARD:0012740|ICD10:N03.6|Orphanet:97566|UMLS:C4273674	ordo_disease	fibrillary glomerulonephritis|non-amyloid fibrillary glomerulonephritis|Congo red-negative amyloidosis-like glomerulopathy	http://purl.obolibrary.org/obo/MONDO_0019990	Non-amyloid fibrillary glomerulopathy (non-amyloid FGP) is a rare cause of glomerulonephritis (GN) characterized by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, that mainly presents with renal insufficiency, micro-hematuria and nephrotic range proteinuria. Non-amyloid FGP and immunotactoid glomerulopathy (ITG) are often grouped together as pathogenetically related diseases.	SNOMEDCT:718192000|UMLS:C4273674|ORPHA:97566
MONDO:0044907	metastatic squamous cell carcinoma	biolink:Disease	mondo	UMLS:C0334246|SCTID:403906006|NCIT:C4104		Metastatic squamous cell carcinoma	http://purl.obolibrary.org/obo/MONDO_0044907	A squamous cell carcinoma which has spread from its original site of growth to another anatomic site.	SNOMEDCT:403906006|NCIT:C4104|UMLS:C0334246
MONDO:0017330	malignancy diagnosed during pregnancy	biolink:Disease	mondo	Orphanet:289385|UMLS:CN227116	ordo_clinical_situation	cancer diagnosed during pregnancy	http://purl.obolibrary.org/obo/MONDO_0017330		ORPHA:289385|UMLS:CN227116
MONDO:0019993	congenital renal artery stenosis	biolink:Disease	mondo	ICD10:Q27.1|Orphanet:97598|SCTID:271432005	obsoletion_candidate|ordo_disease	congenital renovascular hypoplasia|congenital RAS	http://purl.obolibrary.org/obo/MONDO_0019993	A narrowing of renal arteries that is present since birth.	UMLS:C0495523|SNOMEDCT:271432005|ORPHA:97598
MONDO:0017331	Pilotto syndrome	biolink:Disease	mondo	UMLS:C2931484|MESH:C537400|Orphanet:2894|GARD:0004368	ordo_malformation_syndrome|gard_rare	cleft lip and palate, congenital heart disease, scoliosis, short stature, and mental retardation|cleft lip and palate, congenital heart disease, scoliosis, short stature, and intellectual disability	http://purl.obolibrary.org/obo/MONDO_0017331	Pilotto syndrome is a rare genetic multiple developmental anomalies syndrome, that is characterized by craniofacial anomalies (microcephaly, brachycephaly, craniosynostosis, facial asymmetry, cleft lip, cleft palate, dysmorphic facial features, ear lobe malformations, low hair line), congenital heart defects, hypogenitalism and/or hypogonadism, intellectual disability, scoliosis or kyphoscoliosis, short hypoplastic ribs, failure to thrive, growth delay, short stature and/or micromelia. There have been no further descriptions in the literature since 1975.	UMLS:C2931484|ORPHA:2894|MESH:C537400
MONDO:0019992	pseudohypoparathyroidism	biolink:Disease	mondo	ICD9:275.49|Orphanet:97593|DOID:4184|GARD:0010758|MESH:D011547|NCIT:C99027|MedDRA:10037126|SCTID:58976002|ICD10:E20.1|UMLS:C0033806	gard_rare|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019992	Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP).	MEDDRA:10037126|UMLS:C0033806|SNOMEDCT:58976002|DOID:4184|NCIT:C99027|ORPHA:97593|MESH:D011547
ECTO:0000015	exposure to environmental material	biolink:OntologyClass	mondo			environmental material exposure	http://purl.obolibrary.org/obo/ECTO_0000015	A exposure event involving the interaction of an exposure receptor to environmental material.	
MONDO:0032937	myopathy, congenital proximal, with minicore lesions	biolink:Disease	mondo	OMIM:618823		MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL	http://purl.obolibrary.org/obo/MONDO_0032937		http://identifiers.org/omim/618823
MONDO:0032938	basal ganglia calcification, idiopathic, 8, autosomal recessive	biolink:Disease	mondo	OMIM:618824		BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8	http://purl.obolibrary.org/obo/MONDO_0032938		http://identifiers.org/omim/618824
MONDO:0032935	rhizomelic limb shortening with dysmorphic features	biolink:Disease	mondo	OMIM:618821		RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF	http://purl.obolibrary.org/obo/MONDO_0032935		http://identifiers.org/omim/618821
MONDO:0032936	myopathy, congenital, with respiratory insufficiency and bone fractures	biolink:Disease	mondo	OMIM:618822		MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF	http://purl.obolibrary.org/obo/MONDO_0032936		http://identifiers.org/omim/618822
MONDO:0005358	Dengue hemorrhagic fever	biolink:Disease	mondo	NCIT:C34683|SCTID:20927009|ICD10:A91|DOID:12206|EFO:0004227		DHF|Dengue haemorrhagic fever	http://purl.obolibrary.org/obo/MONDO_0005358	A serious condition caused by Dengue virus infection. Patients present with an acute febrile illness followed by restlessness, irritability, and bleeding. It may lead to hemorrhagic shock and death.	DOID:12206|SNOMEDCT:20927009|NCIT:C34683
MONDO:0032933	chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant	biolink:Disease	mondo	OMIM:618815		CHROMOSOME 1p36.33 DUPLICATION SYNDROME, ATAD3 GENE CLUSTER, AUTOSOMAL DOMINANT	http://purl.obolibrary.org/obo/MONDO_0032933		http://identifiers.org/omim/618815
MONDO:0005357	Creutzfeldt Jacob disease	biolink:Disease	mondo	COHD:372241|ICD10:A81.00|MESH:D007562|ICD9:046.19|EFO:0004226|DOID:11949|NCIT:C26802|ICD9:046.1|SCTID:792004|ICD10:A81.0|GARD:0006956		Subacute spongiform encephalopathy|transmissible virus dementia|classic Creutzfeldt-Jakob disease|Creutzfeldt Jakob disease|Creutzfeldt Jacob syndrome|Creutzfeldt-Jakob disease|CJD|CJD (Creutzfeldt Jakob disease)|Creutzfeldt-Jacob disease|Jakob-Creutzfeldt disease	http://purl.obolibrary.org/obo/MONDO_0005357	A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease.	MESH:D007562|NCIT:C26802|DOID:11949|SNOMEDCT:792004
MONDO:0032934	genitourinary and/or brain malformation syndrome	biolink:Disease	mondo	OMIM:618820		GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS	http://purl.obolibrary.org/obo/MONDO_0032934		http://identifiers.org/omim/618820
MONDO:0032931	pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	biolink:Disease	mondo	OMIM:618810		PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL|Chromosome 1P36.33 Deletion Syndrome, Atad3 Gene Cluster, Autosomal Recessive|Phrinl Syndrome	http://purl.obolibrary.org/obo/MONDO_0032931		http://identifiers.org/omim/618810
MONDO:0005359	drug-induced liver injury	biolink:Disease	mondo	SCTID:197352008|MESH:D056486|EFO:0004228		drug-induced disorder of liver|drug induced hepatotoxicity	http://purl.obolibrary.org/obo/MONDO_0005359	A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to acute liver failure, caused by drugs, drug metabolites, and chemicals from the environment.	SNOMEDCT:197352008|MESH:D056486
MONDO:0032932	mitochondrial DNA depletion syndrome 18	biolink:Disease	mondo	OMIM:618811		MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18	http://purl.obolibrary.org/obo/MONDO_0032932		http://identifiers.org/omim/618811
MONDO:0005354	chronic hepatitis C virus infection	biolink:Disease	mondo	EFO:0004220|COHD:198964|ICD9:070.44|MESH:D019698		hepatitis C, chronic|hepatitis C infection, chronic|chronic Hepatitis C	http://purl.obolibrary.org/obo/MONDO_0005354	Chronic form of hepatitis C infection.	MESH:D019698
MONDO:0005353	obsolete marijuana dependence	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0005353	The excessive use of marijuana with associated psychological symptoms and impairment in social or occupational functioning.	
MONDO:0005356	coronary vasospasm	biolink:Disease	mondo	SCTID:23687008|MESH:D003329|ICD9:413.9|EFO:0004225|DOID:11840|UMLS:C0010073		coronary artery vasospasm|coronary vasospasm|coronary artery spasm	http://purl.obolibrary.org/obo/MONDO_0005356	Sudden coronary artery smooth muscle contraction leading to lumen constriction and decreased blood flow.	DOID:11840|MESH:D003329|SNOMEDCT:23687008|NCIT:C34515|UMLS:C0010073
MONDO:0020971	gonococcal urethritis	biolink:Disease	mondo	SCTID:236682002|NCIT:C26787|UMLS:C0018078		gonococcal urethritis|Gonococcal urethritis|gc urethritis	http://purl.obolibrary.org/obo/MONDO_0020971	Inflammation of the urethra secondary to infection with Neisseria gonorrhoeae; this infection is spread through sexual contact.	UMLS:C0018078|SNOMEDCT:236682002|NCIT:C26787
MONDO:0005355	coronary restenosis	biolink:Disease	mondo	UMLS:C0948480|DOID:4247|MESH:D023903|EFO:0004224			http://purl.obolibrary.org/obo/MONDO_0005355	Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction.	MESH:D023903|UMLS:C0948480|DOID:4247
MONDO:0005350	abdominal aortic aneurysm	biolink:Disease	mondo	UMLS:C0162871|SCTID:233985008|MESH:D017544|DOID:7693|EFO:0004214		aortic aneurysm, familial abdominal 1	http://purl.obolibrary.org/obo/MONDO_0005350	Enlargement and ballooning of the vessel that supplies arterial blood to the abdomen, pelvis and legs.	MESH:D017544|DOID:7693|SNOMEDCT:233985008|UMLS:C0162871|NCIT:C27000
MONDO:0032939	intellectual developmental disorder, autosomal dominant 63, with macrocephaly	biolink:Disease	mondo	OMIM:618825		INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63|Mental Retardation, Autosomal Dominant 63, With Macrocephaly	http://purl.obolibrary.org/obo/MONDO_0032939		http://identifiers.org/omim/618825
MONDO:0005352	conduct disorder	biolink:Disease	mondo	ICD9:312.9|ICD10:F91.9|NCIT:C89329|COHD:443617|ICD9:312.89|EFO:0004216|DOID:12995|MESH:D019955|ICD10:F91|SCTID:430909002			http://purl.obolibrary.org/obo/MONDO_0005352	A disorder diagnosed in childhood or adolescence age group characterized by aggressive behavior, deceitfulness, destruction of property or violation of rules that is persistent and repetitive, and within a one year period.	MESH:D019955|DOID:12995|NCIT:C89329|SNOMEDCT:430909002
MONDO:0005351	anorexia nervosa	biolink:Disease	mondo	COHD:436675|SCTID:56882008|MESH:D000856|ICD9:307.1|DOID:8689|EFO:0004215|ICD10:F50.0|ICD10:F50.00|NCIT:C34387			http://purl.obolibrary.org/obo/MONDO_0005351	A disorder most often seen in adolescent females characterized by a refusal to maintain a minimally normal body weight, an intense fear of gaining weight, a disturbance in body image, and, in postmenarcheal females, the development of amenorrhea.	DOID:8689|NCIT:C34387|SNOMEDCT:56882008|MESH:D000856
MONDO:0044915	salivary duct carcinoma	biolink:Disease	mondo	NCIT:C5904|UMLS:C1301194|ONCOTREE:SDCA		carcinoma of the salivary duct|high grade salivary duct carcinoma|carcinoma of salivary duct|carcinoma of duct of salivary gland|duct of salivary gland carcinoma|salivary duct carcinoma	http://purl.obolibrary.org/obo/MONDO_0044915	An aggressive, high grade adenocarcinoma that arises from the salivary glands. It usually affects elderly males and presents as a rapidly enlarging mass. It metastasizes to regional lymph nodes and distant anatomic sites.	UMLS:C1301194|NCIT:C5904
MONDO:0017329	familial vesicoureteral reflux	biolink:Disease	mondo	SCTID:763716008|ICD10:N13.7|Orphanet:289365|UMLS:CN202969	ordo_malformation_syndrome	hereditary vesicoureteral reflux (disease)|familial VUR	http://purl.obolibrary.org/obo/MONDO_0017329	Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible.	ORPHA:289365|SNOMEDCT:763716008|UMLS:CN202969
FOODON:00003004	animal	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_00003004	A multicellular eukaryotic heterotrophic organism within the kingdom Animalia.	
MONDO:0044917	T-lymphoblastic lymphoma	biolink:Disease	mondo	NCIT:C6919|SCTID:421246008|EFO:1001830		precursor T-lymphoblastic lymphoma|precursor T-Lymphoblastic lymphoma|precursor T-cell Lymphoblastic lymphoma|T Lymphoblastic lymphoma|T-Lymphoblastic lymphoma|T-lymphoblastic lymphoma|Precur. T-lymphoblastic lymphoma|precursor T Lymphoblastic lymphoma	http://purl.obolibrary.org/obo/MONDO_0044917	The most frequent type of lymphoblastic lymphoma. It comprises approximately 85-90% of cases. It is more frequently seen in adolescent males. It frequently presents with a mass lesion in the mediastinum. Pleural effusions are common. (WHO, 2001)	NCIT:C6919|SNOMEDCT:421246008
MONDO:0044916	extrarenal rhabdoid tumor	biolink:Disease	mondo	NCIT:C6586|SCTID:404089007|UMLS:C1304517		malignant extrarenal rhabdoid neoplasm|rhabdoid tumor of soft tissue|extrarenal rhabdoid tumor	http://purl.obolibrary.org/obo/MONDO_0044916	A rhabdoid tumor which arises in the soft tissues. It occurs in infants and children and may be associated with loss of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm.	NCIT:C6586|SNOMEDCT:404089007|UMLS:C1304517
MONDO:0019988	pauci-immune glomerulonephritis with ANCA	biolink:Disease	mondo	Orphanet:97563|ICD10:N05.7|UMLS:CN206923	ordo_clinical_subtype	pauci-immune glomerulonephritis with antineutrophil cytoplasmic antibody	http://purl.obolibrary.org/obo/MONDO_0019988	Pauci-immune glomerulonephritis (GN) with antineutrophil cytoplasmic antibodies (ANCA) is a form of rapidly progressive GN comprising about 90% of pauci-immune glomerulonephritis, and associated with the presence of circulating ANCA (mostly directed against proteinase-3 (PR3) and myeloperoxidase (MPO)). Patients usually present with hematuria and rapidly declining renal function, often leading to dialysis within weeks without treatment. Cutaneous, pulmonary, musculoskeletal and nervous involvement may be observed in case of systemic disease, and the correlation between ANCA titer and disease activity has been demonstrated.	ORPHA:97563|UMLS:CN206923
MONDO:0017325	early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	biolink:Disease	mondo	Orphanet:289266|ICD10:E72.1	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0017325	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.	ORPHA:289266|http://identifiers.org/omim/613971
MONDO:0019987	obsolete congenital and infantile nephrotic syndrome	biolink:Disease	mondo	Orphanet:97556	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019987		ORPHA:97556
MONDO:0017326	infective dermatitis associated with HTLV-1	biolink:Disease	mondo	Orphanet:289347|NCIT:C129260|UMLS:CN202966|ICD10:L30.3	ordo_disease	isocitrate dehydrogenase Gene family|infective dermatitis associated with human T-lymphotropic virus type 1|IDH|infective dermatitis associated with human T-lymphotropic virus type I|IDH Gene family	http://purl.obolibrary.org/obo/MONDO_0017326	A rare and severe chronic disease characterized by recurrent chronic eczema (with erythematous, scaly and crusted lesions) mainly affecting seborrheic areas (e.g. scalp, forehead, eyelids, paranasal and periauricular skin, neck, axillae, and groin), a generalized fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression. Lymphadenopathy, anemia, mild to moderate pruritus and increased incidence of other infections (e.g. crusted scabies) have also been reported in some patients. Patients may subsequently develop other HTLV-1 associated conditions such as adult T-cell leukemia/lymphoma and tropical spastic paraparesis.	ORPHA:289347|NCIT:C129260|UMLS:CN202966
MONDO:0017327	primary non-gestational choriocarcinoma of ovary	biolink:Disease	mondo	Orphanet:289356|UMLS:C4274424|SCTID:716588005|ICD10:C56|UMLS:CN202967	ordo_disease	primary non-gestational ovarian choriocarcinoma|NGCO	http://purl.obolibrary.org/obo/MONDO_0017327	Primary non-gestational choriocarcinoma of ovary is a rare ovarian germ cell malignant tumor, arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin (hCG). It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma and hence should be distinguished from the latter by DNA polymorphism.	ORPHA:289356|UMLS:C4274424|SNOMEDCT:716588005|UMLS:CN202967
MONDO:0044913	metastatic malignant neoplasm in the eye	biolink:Disease	mondo	SCTID:94292003|UMLS:C0347019|NCIT:C4586		Metastatic malignant neoplasm in the eye|eye metastasis|metastasis to the eye|Metastatic tumor to the eye|metastasis to eye|Metastatic neoplasm to the eye|Metastatic malignant neoplasm to the eye|Metastases to the eye|Metastases to eye	http://purl.obolibrary.org/obo/MONDO_0044913	A malignant neoplasm that has spread to the eye from another anatomic site.	UMLS:C0347019|NCIT:C4586|SNOMEDCT:94292003
MONDO:0019989	pauci-immune glomerulonephritis without ANCA	biolink:Disease	mondo	Orphanet:97564|ICD10:N05.7	ordo_clinical_subtype	pauci-immune glomerulonephritis without antineutrophil cytoplasmic antibody|antineutrophil cytoplasmic antibody-negative pauci-immune glomerulonephritis	http://purl.obolibrary.org/obo/MONDO_0019989	Pauci-immune glomerulonephritis (GN) without antineutrophilic cytoplasmic antibodies (ANCA) is a form of rapidly progressive glomerulonephritis comprising 10-43% of pauci-immune glomerulonephritis and characterized by the absence of ANCA. In comparison with pauci-immune GN with ANCA, patients lacking ANCA may be younger at onset of the disease and have a shorter interval from onset of the disease to diagnosis. They have fewer extra renal manifestations (e.g. involvement of lung, eye, ear, nose and throat), fewer constitutional symptoms (e.g. fever, weight loss, muscle pain and arthralgia) and a high prevalence of nephrotic syndrome and chronic renal lesions. Their prognosis is generally poorer.	ORPHA:97564
MONDO:0044912	metastatic malignant neoplasm in the spinal cord	biolink:Disease	mondo	SCTID:94600009|UMLS:C0347016|NCIT:C4585		Metastatic malignant neoplasm in the spinal cord|Metastatic tumor to the spinal cord|Secondary malignant tumor to the spinal cord|metastasis to spinal cord|Secondary malignant neoplasm to the spinal cord|Metastatic neoplasm to the spinal cord|Metastatic malignant neoplasm to the spinal cord	http://purl.obolibrary.org/obo/MONDO_0044912	A malignant neoplasm that has spread to the spinal cord from another anatomic site or system. Representative examples include carcinoma, lymphoma, and melanoma.	UMLS:C0347016|NCIT:C4585|SNOMEDCT:94600009
MONDO:0017328	non-central nervous system-localized embryonal carcinoma	biolink:Disease	mondo	ICD10:C22.7|Orphanet:289362|UMLS:CN202968	ordo_clinical_subtype	non-CNS-localized embryonal carcinoma	http://purl.obolibrary.org/obo/MONDO_0017328		ORPHA:289362|UMLS:CN202968
MONDO:0019984	renal tubular dysgenesis due to twin-twin transfusion	biolink:Disease	mondo	Orphanet:97367|UMLS:CN206914|ICD10:Q63.8	ordo_etiological_subtype		http://purl.obolibrary.org/obo/MONDO_0019984	'Renal tubular dysgenesis due to twin-twin transfusion syndrome (TTTS) is an acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).'	UMLS:CN206914|ORPHA:97367
MONDO:0032940	retinitis pigmentosa 88	biolink:Disease	mondo	OMIM:618826		RETINITIS PIGMENTOSA 88; RP88	http://purl.obolibrary.org/obo/MONDO_0032940		http://identifiers.org/omim/618826
MONDO:0017321	pili torti-onychodysplasia syndrome	biolink:Disease	mondo	Orphanet:2890|UMLS:C2931483	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0017321	Pili torti-onychodysplasia is a form of ectodermal dysplasia characterised by dystrophy of the distal part of the nails and trichodysplasia. It has been described in only one family. Transmission is autosomal recessive.	UMLS:C2931483|MESH:C537399|ORPHA:2890
MONDO:0032941	myopia 27	biolink:Disease	mondo	OMIM:618827		MYOPIA 27; MYP27	http://purl.obolibrary.org/obo/MONDO_0032941		http://identifiers.org/omim/618827
MONDO:0019983	multiloculated renal cyst	biolink:Disease	mondo	Orphanet:97366|SCTID:86463003	ordo_morphological_anomaly	multilocular cyst of the kidney|multilocular renal cyst	http://purl.obolibrary.org/obo/MONDO_0019983		SNOMEDCT:86463003|ORPHA:97366
MONDO:0017322	disorders of vitamin D metabolism	biolink:Disease	mondo	Orphanet:289098|UMLS:CN202954	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0017322		ORPHA:289098|UMLS:CN202954
MONDO:0019986	sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy	biolink:Disease	mondo	Orphanet:97555|UMLS:CN206920|ICD10:N04.8	ordo_histopathological_subtype		http://purl.obolibrary.org/obo/MONDO_0019986		ORPHA:97555|UMLS:CN206920
MONDO:0017323	hypocalcemic rickets	biolink:Disease	mondo	UMLS:C4302195|Orphanet:289103|SCTID:722947004|UMLS:C4329608|NCIT:C131421	ordo_group_of_disorders	calcium deficiency rickets|Calciopenic rickets	http://purl.obolibrary.org/obo/MONDO_0017323	Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR).	NCIT:C131421|UMLS:C4302195|ORPHA:289103|SNOMEDCT:722947004|UMLS:C4329608
MONDO:0019985	drug-related renal tubular dysgenesis	biolink:Disease	mondo	Orphanet:97368|ICD10:Q63.8	ordo_etiological_subtype		http://purl.obolibrary.org/obo/MONDO_0019985		ORPHA:97368
MONDO:0017324	autosomal recessive hypophosphatemic rickets	biolink:Disease	mondo	ICD10:E83.3|Orphanet:289176|DOID:0050949|UMLS:CN202957|SCTID:90505000	ordo_disease	hypophosphatemic rickets, autosomal recessive|autosomal recessive hereditary hypophosphatemic rickets|ARHR|hereditary hypophosphatemic rickets, autosomal recessive	http://purl.obolibrary.org/obo/MONDO_0017324	Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.	DOID:0050949|ORPHA:289176|SNOMEDCT:90505000|UMLS:CN202957
MONDO:0044919	malignant renal pelvis neoplasm	biolink:Disease	mondo	NCIT:C7525		malignant tumor of the renal pelvis|malignant neoplasm of renal pelvis|renal pelvis cancer|malignant renal pelvis neoplasm|malignant renal pelvis tumor|malignant neoplasm of the renal pelvis|cancer of renal pelvis|malignant tumor of renal pelvis	http://purl.obolibrary.org/obo/MONDO_0044919	A primary or metastatic malignant neoplasm that affects the renal pelvis.	NCIT:C7525
MONDO:0019980	renal hypoplasia, bilateral	biolink:Disease	mondo	Orphanet:97362|SCTID:268232000|ICD10:Q60.4	ordo_clinical_subtype		http://purl.obolibrary.org/obo/MONDO_0019980	Bilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which both kidneys are small and have a deficit in the number of nephrons present.	SNOMEDCT:268232000|UMLS:C0431692|ORPHA:97362
HGNC:13013	KAT6A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/13013		
MONDO:0019982	bilateral multicystic dysplastic kidney	biolink:Disease	mondo	Orphanet:97364|ICD10:Q61.4|GARD:0009517|SCTID:717749002	ordo_clinical_subtype	MRD|Pelvi-ureteric junction obstruction|bilateral multicystic renal dysplasia|PUJO|bilateral MCDK	http://purl.obolibrary.org/obo/MONDO_0019982	Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional.	SNOMEDCT:717749002|UMLS:C1840451|MESH:C537373|UMLS:C1567427|ORPHA:97364
MONDO:0019981	unilateral multicystic dysplastic kidney	biolink:Disease	mondo	ICD10:Q61.4|Orphanet:97363	ordo_clinical_subtype	unilateral MCDK|unilateral multicystic renal dysplasia	http://purl.obolibrary.org/obo/MONDO_0019981	Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional.	UMLS:C1567426|ORPHA:97363
MONDO:0017320	phosphoenolpyruvate carboxykinase deficiency	biolink:Disease	mondo	Orphanet:2880|NCIT:C99015|ICD10:E74.4|ICD9:277.89|MESH:C536654|UMLS:C0268194|SCTID:5335002	ordo_disease	PEPCK deficiency|phosphoenolpyruvate carboxykinase (GTP) deficiency	http://purl.obolibrary.org/obo/MONDO_0017320	Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.	UMLS:C0268194|SNOMEDCT:5335002|ORPHA:2880|NCIT:C99015|MESH:C536654
HGNC:15672	ALG9	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15672		
MONDO:0007904	median nodule of the upper lip	biolink:Disease	mondo	OMIM:151630|SCTID:722034006|GARD:0003440|UMLS:C1835396|ICD10:Q18.8|Orphanet:2699	ordo_malformation_syndrome|gard_rare	LIP, MEDIAN NODULE of upper	http://purl.obolibrary.org/obo/MONDO_0007904	Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion.	http://identifiers.org/omim/151630|UMLS:C1835396|SNOMEDCT:722034006|ORPHA:2699
GO:0044262	cellular carbohydrate metabolic process	biolink:OntologyClass	mondo			cellular carbohydrate metabolism|main pathways of carbohydrate metabolic process|main pathways of carbohydrate metabolism	http://purl.obolibrary.org/obo/GO_0044262	The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells.	
MONDO:0007905	lip, hamartomatous	biolink:Disease	mondo	OMIM:151640|UMLS:C1835395|MESH:C563621		lip, hamartomatous|enlargement of Lower lip	http://purl.obolibrary.org/obo/MONDO_0007905		http://identifiers.org/omim/151640|MESH:C563621|UMLS:C1835395
MONDO:0007902	lichen planus, familial	biolink:Disease	mondo	UMLS:C1835402|OMIM:151620|MESH:C563624		hereditary lichen planus|lichen planus, familial	http://purl.obolibrary.org/obo/MONDO_0007902	An instance of lichen planus that is caused by an inherited modification of the individual's genome.	http://identifiers.org/omim/151620|MESH:C563624|UMLS:C1835402
GO:0010927	cellular component assembly involved in morphogenesis	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010927	The cellular component assembly that is part of the initial shaping of the component during its developmental progression.	
MONDO:0007903	Li-Fraumeni syndrome 1	biolink:Disease	mondo	DOID:0111503|OMIM:151623|OMIM:609266|UMLS:C1836481|MESH:C563754|UMLS:C1835398	clingen	Li-Fraumeni syndrome 3|Li-Fraumeni-like syndrome|LFS1|Li-Fraumeni syndrome 1|Sbla syndrome|Li-Fraumeni syndrome 1; LFS1|Li-Fraumeni syndrome caused by mutation in TP53|Li-Fraumeni syndrome 3; LFS3|Li-Fraumeni syndrome; LFS|sarcoma family syndrome of 51 and Fraumeni|LFS|Li-Fraumeni syndrome type 1|LFS3|TP53 Li-Fraumeni syndrome	http://purl.obolibrary.org/obo/MONDO_0007903	Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the TP53 gene.	DOID:0111503|http://identifiers.org/omim/151623|UMLS:C1836481|MESH:C563754|UMLS:C1835398|http://identifiers.org/omim/609266
GO:0044260	cellular macromolecule metabolic process	biolink:OntologyClass	mondo			cellular biopolymer metabolic process|cellular macromolecule metabolism	http://purl.obolibrary.org/obo/GO_0044260	The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, as carried out by individual cells.	
MONDO:0007900	nonsyndromic congenital nail disorder 3	biolink:Disease	mondo	MESH:C537289|OMIM:151600|SCTID:74102009|DOID:0080081|ICD9:703.8|GARD:0002555	gard_rare	leukonychia Striatus|leukonychia totalis and/or partialis|leukonychia totalis multiple sebaceous cysts renal calculi|Gorlin Bushkell Jensen syndrome|NDNC3|PLCD1 inherited isolated nail anomaly|nail disorder, nonsyndromic congenital, type 3|leukonychia punctata|porcelain nails|inherited isolated nail anomaly caused by mutation in PLCD1|nail disorder, nonsyndromic congenital, 3; NDNC3|nail disorder, nonsyndromic congenital, 3|nonsyndromic congenital nail disorder type 3	http://purl.obolibrary.org/obo/MONDO_0007900	Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the PLCD1 gene.	http://identifiers.org/omim/151600|SNOMEDCT:74102009|DOID:0080081|MESH:C537289
UBERON:0002119	left ovary	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0002119	An ovary that is part of a left side of organism [Automatically generated definition].	
MONDO:0007901	levator-medial rectus synkinesis	biolink:Disease	mondo	UMLS:C1835403|OMIM:151610|MESH:C563625		oculomotor-levator synkinesis|levator-medial rectus synkinesis	http://purl.obolibrary.org/obo/MONDO_0007901		http://identifiers.org/omim/151610|MESH:C563625|UMLS:C1835403
UBERON:0002118	right ovary	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0002118	An ovary that is part of a right side of organism [Automatically generated definition].	
GO:0010921	regulation of phosphatase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010921	Any process that modulates the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate.	
GO:0010922	positive regulation of phosphatase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010922	Any process that increases the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate.	
GO:0044267	cellular protein metabolic process	biolink:OntologyClass	mondo			cellular protein metabolism	http://purl.obolibrary.org/obo/GO_0044267	The chemical reactions and pathways involving a specific protein, rather than of proteins in general, occurring at the level of an individual cell. Includes cellular protein modification.	
UBERON:2000364	hypural	biolink:AnatomicalEntity	mondo			hyp|hypuralia|hypurals	http://purl.obolibrary.org/obo/UBERON_2000364	Laterally flattened haemal spine of an ural vertebra that lacks its arch and supports a few principal caudal lepidotrichia distally. A hypural may articulate or fuse with its ural centrum proximally or may lie ventral to the notochord. A hypural is an unpaired median bone that ossifies perichondrally. (Modified from Monod, 1968 and Arratia and Schultze, 1992).	
GO:0010923	negative regulation of phosphatase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010923	Any process that decreases the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate.	
GO:0044264	cellular polysaccharide metabolic process	biolink:OntologyClass	mondo			cellular polysaccharide metabolism|cellular glycan metabolism|cellular glycan metabolic process	http://purl.obolibrary.org/obo/GO_0044264	The chemical reactions and pathways involving polysaccharides, polymers of more than 10 monosaccharide residues joined by glycosidic linkages, as carried out by individual cells.	
UBERON:0004781	gall bladder lamina propria	biolink:AnatomicalEntity	mondo			lamina propria of gallbladder|gall bladder lamina propria mucosa|biliary lamina propria|lamina propria of gall bladder|gallbladder lamina propria|gallbladder lamina propria mucosa|lamina propria mucosa of gall bladder|lamina propria mucosa of gallbladder	http://purl.obolibrary.org/obo/UBERON_0004781	A lamina propria that is part of a gallbladder [Automatically generated definition].	
UBERON:0004782	gastrointestinal system serosa	biolink:AnatomicalEntity	mondo			gastrointestinal system serous membrane|digestive system serosa|serosa of digestive system|digestive system serous membrane|serous membrane of gastrointestinal system|serosa of gastrointestinal system|serous membrane of digestive system	http://purl.obolibrary.org/obo/UBERON_0004782	A serous membrane that is part of a digestive system [Automatically generated definition].	
UBERON:0002120	pronephros	biolink:AnatomicalEntity	mondo			archinephron|pronephron|embryonic kidney|pronephric kidney	http://purl.obolibrary.org/obo/UBERON_0002120	In mammals, the pronephros is the first of the three embryonic kidneys to be established and exists only transiently. In lower vertebrates such as fish and amphibia, the pronephros is the fully functional embryonic kidney and is indispensible for larval life[GO].	
UBERON:0004780	gastrointestinal system lamina propria	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004780	A lamina propria that is part of a gastrointestinal system.	
HGNC:15646	KLHL7	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15646		
UBERON:0004789	larynx mucous gland	biolink:AnatomicalEntity	mondo			mucous gland of larynx	http://purl.obolibrary.org/obo/UBERON_0004789	A mucous gland that is part of a larynx [Automatically generated definition].	
UBERON:0002125	thymus lobule	biolink:AnatomicalEntity	mondo			thymus lobule|lobule of thymus|thymic lobule	http://purl.obolibrary.org/obo/UBERON_0002125	A lobule that is part of a thymus. Divided into an outer cortex and inner medulla and separated from each other by connective tissue septa, but with the medullary tissue continuous from lobule to lobule.[ncit,modified].	
UBERON:0002128	superior olivary complex	biolink:AnatomicalEntity	mondo			superior olivary nucleus|regio olivaris superioris|superior olive|superior olivary nucleus (Barr & Kiernan)|superior olivary nuclei|nucleus olivaris superior	http://purl.obolibrary.org/obo/UBERON_0002128	A a collection of brainstem nuclei that functions in multiple aspects of hearing and is an important component of the ascending and descending auditory pathways of the auditory system.	
UBERON:0004787	urethra urothelium	biolink:AnatomicalEntity	mondo			uroepithelium of urethra|urethra uroepithelium|urothelium of urethra	http://purl.obolibrary.org/obo/UBERON_0004787	An urothelium that is part of a urethra [Automatically generated definition].	
UBERON:0004788	kidney pelvis urothelium	biolink:AnatomicalEntity	mondo			transitional epithelium of kidney pelvis|renal pelvis transitional epithelium|uroepithelium of kidney pelvis|pelvis of ureter urothelium|urothelium of pelvis of ureter|kidney pelvis uroepithelium|pelvic urothelium|uroepithelium of renal pelvis|kidney pelvis transitional epithelium|pelvis of ureter uroepithelium|transitional epithelium of renal pelvis|renal pelvis urothelium|urothelium of renal pelvis|urothelium of kidney pelvis|uroepithelium of pelvis of ureter|renal pelvis uroepithelium	http://purl.obolibrary.org/obo/UBERON_0004788	the epithelial lining of the luminal space of the kidney pelvis	
HGNC:2950	DNAH5	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2950		
UBERON:0004785	respiratory system mucosa	biolink:AnatomicalEntity	mondo			laryngeal mucous membrane|apparatus respiratorius mucosa|respiratory system mucous membrane|mucosa of organ of respiratory system|respiratory mucosa|apparatus respiratorius mucosa of organ|mucous membrane of apparatus respiratorius|mucosa of respiratory system|mucosa of apparatus respiratorius|mucous membrane of respiratory system|respiratory tract mucosa|mucosa of organ of apparatus respiratorius|apparatus respiratorius mucous membrane|respiratory system mucosa of organ	http://purl.obolibrary.org/obo/UBERON_0004785	the mucous membrane lining the respiratory tract	
UBERON:0002122	capsule of thymus	biolink:AnatomicalEntity	mondo			thymus capsule|thymic capsule	http://purl.obolibrary.org/obo/UBERON_0002122	The fibrous connective tissue surrounding the thymus.	
UBERON:0004786	gastrointestinal system mucosa	biolink:AnatomicalEntity	mondo			mucosa of gut|gut mucuous membrane|digestive tract mucosa|gut mucosa	http://purl.obolibrary.org/obo/UBERON_0004786	A mucosa that is part of a gastrointestinal system.	
UBERON:0004783	gall bladder serosa	biolink:AnatomicalEntity	mondo			tunica serosa (vesica biliaris)|biliary serosa|gall bladder serous membrane|serosa of gall bladder|serosa of gallbladder|gallbladder serosa|gallbladder serous membrane|serous coat of gallbladder|serous membrane of gall bladder|serous membrane of gallbladder|tunica serosa vesicae biliaris	http://purl.obolibrary.org/obo/UBERON_0004783	A serous membrane that is part of a gallbladder [Automatically generated definition].	
UBERON:0002124	medulla of thymus	biolink:AnatomicalEntity	mondo			medulla of thymus gland|thymus gland medulla|thymus medulla	http://purl.obolibrary.org/obo/UBERON_0002124	Medullary portion of thymus. The reticulum is coarser than in the cortex, the lymphoid cells are relatively fewer in number, and there are found peculiar nest-like bodies, the concentric corpuscles of Hassall. These concentric corpuscles are composed of a central mass, consisting of one or more granular cells, and of a capsule formed of epithelioid cells. They are the remains of the epithelial tubes, which grow out from the third branchial pouches of the embryo to form the thymus. Each follicle is surrounded by a vascular plexus, from which vessels pass into the interior, and radiate from the periphery toward the center, forming a second zone just within the margin of the medullary portion. In the center of the medullary portion there are very few vessels, and they are of minute size.	
UBERON:0002123	cortex of thymus	biolink:AnatomicalEntity	mondo			thymus cortex|thymic cortex	http://purl.obolibrary.org/obo/UBERON_0002123	the outer part of a thymus lobule that surrounds the medulla and is composed of closely packed lymphocytes	
UBERON:0004784	heart ventricle wall	biolink:AnatomicalEntity	mondo			wall of cardiac ventricle|wall of ventricle|anatomical wall of heart ventricle|lower chamber of heart anatomical wall|ventricle of heart anatomical wall|wall of heart ventricle|cardiac ventricle anatomical wall|wall of lower chamber of heart|wall of ventricle of heart|cardiac ventricle wall|anatomical wall of lower chamber of heart|heart ventricle anatomical wall|anatomical wall of ventricle of heart|ventricle of heart wall|lower chamber of heart wall|ventricular wall|anatomical wall of cardiac ventricle	http://purl.obolibrary.org/obo/UBERON_0004784	An anatomical wall that is part of a cardiac ventricle [Automatically generated definition].	
MONDO:0007915	systemic lupus erythematosus (disease)	biolink:Disease	mondo	Orphanet:536|OMIM:152700|ICD10:M32.1|ICD10:M32.9|ICD10:M32.0|ICD9:710.0|MESH:D008180|SCTID:55464009|ICD10:M32|COHD:257628|ICD10:M32.8|EFO:0002690|DOID:9074|HP:0002725|NCIT:C3201|KEGG:05322	ordo_disease	systemic lupus erythematosus|lupus erythematosus, systemic|systemic lupus erythematosus; SLE|SLE|SLE - lupus erythematosus, systemic|excess LMW-DNA|disseminated lupus erythematosus|excess lymphocyte low molecular weight DNA	http://purl.obolibrary.org/obo/MONDO_0007915	An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific.	http://identifiers.org/omim/152700|DOID:9074|NCIT:C3201|SNOMEDCT:55464009|MESH:D008180|ORPHA:536
GO:0044272	sulfur compound biosynthetic process	biolink:OntologyClass	mondo			sulfur compound biosynthesis|sulfur compound anabolism|sulfur biosynthesis|sulfur biosynthetic process|sulfur compound synthesis|sulfur compound formation	http://purl.obolibrary.org/obo/GO_0044272	The chemical reactions and pathways resulting in the formation of compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione.	
MONDO:0007916	primary intestinal lymphangiectasia	biolink:Disease	mondo	Orphanet:90362|UMLS:CN206410|SCTID:6124009|ICD9:457.1|GARD:0007873|UMLS:C0267372|OMIM:152800|ICD10:I89.0	gard_rare|ordo_disease	Waldmann's disease|familial Waldmann's disease (type)|primary intestinal lymphangiectasis|Waldmann disease|lymphangiectasia, intestinal	http://purl.obolibrary.org/obo/MONDO_0007916	Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children.	UMLS:CN206410|http://identifiers.org/omim/152800|UMLS:C2931241|UMLS:C0267372|ORPHA:90362|SNOMEDCT:6124009|MESH:C536567
GO:0044273	sulfur compound catabolic process	biolink:OntologyClass	mondo			sulfur compound catabolism|sulfur catabolic process|sulfur catabolism|sulfur compound degradation|sulfur compound breakdown	http://purl.obolibrary.org/obo/GO_0044273	The chemical reactions and pathways resulting in the breakdown of compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione.	
MONDO:0007913	low density lipoprotein, variation in molecular weight of	biolink:Disease	mondo	OMIM:152450		LOW density lipoprotein, variation in molecular weight OF	http://purl.obolibrary.org/obo/MONDO_0007913		http://identifiers.org/omim/152450
GO:0044270	cellular nitrogen compound catabolic process	biolink:OntologyClass	mondo			nitrogen compound degradation|nitrogen compound breakdown|nitrogen compound catabolism	http://purl.obolibrary.org/obo/GO_0044270	The chemical reactions and pathways resulting in the breakdown of organic and inorganic nitrogenous compounds.	
HGNC:2959	DNASE1L3	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2959		
GO:0044271	cellular nitrogen compound biosynthetic process	biolink:OntologyClass	mondo			nitrogen compound biosynthesis|nitrogen compound anabolism|nitrogen compound synthesis|nitrogen compound formation	http://purl.obolibrary.org/obo/GO_0044271	The chemical reactions and pathways resulting in the formation of organic and inorganic nitrogenous compounds.	
MONDO:0007914	lumbar stenosis, familial	biolink:Disease	mondo	UMLS:C1835320|MESH:C563613|OMIM:152550		lumbar stenosis, familial	http://purl.obolibrary.org/obo/MONDO_0007914		MESH:C563613|UMLS:C1835320|http://identifiers.org/omim/152550
UBERON:0002108	small intestine	biolink:AnatomicalEntity	mondo			small intestine|mid intestine|intestinum tenue|anterior intestine|small bowel	http://purl.obolibrary.org/obo/UBERON_0002108	Subdivision of digestive tract that connects the stomach to the large intestine and is where much of the digestion and absorption of food takes place (with the exception of ruminants). The mammalian small intestine is long and coiled and can be differentiated histologically into: duodenum, jejunem, ileum[WP,cjm,Kardong].	
MONDO:0007911	lipoprotein, variant of beta	biolink:Disease	mondo	OMIM:152400		lipoprotein, variant of beta|Beta-lipoprotein, Double	http://purl.obolibrary.org/obo/MONDO_0007911		http://identifiers.org/omim/152400
MONDO:0007912	lithium transport	biolink:Disease	mondo	OMIM:152420		lithium transport	http://purl.obolibrary.org/obo/MONDO_0007912		http://identifiers.org/omim/152420
UBERON:0002107	liver	biolink:AnatomicalEntity	mondo			jecur|iecur	http://purl.obolibrary.org/obo/UBERON_0002107	An exocrine gland which secretes bile and functions in metabolism of protein and carbohydrate and fat, synthesizes substances involved in the clotting of the blood, synthesizes vitamin A, detoxifies poisonous substances, stores glycogen, and breaks down worn-out erythrocytes[GO].	
HGNC:2956	DNASE1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2956		
UBERON:0004769	diaphysis	biolink:AnatomicalEntity	mondo			long bone diaphysis|body of long bone|shaft of long bone	http://purl.obolibrary.org/obo/UBERON_0004769	Subdivision of long bone which forms the part of the bone between the two epiphyses, excluding the metaphyses[FMA,modified].	
HGNC:2955	DNAL4	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2955		
UBERON:0002109	pair of nares	biolink:AnatomicalEntity	mondo			nostrils|nares set|set of nares|nares|pair of nostrils	http://purl.obolibrary.org/obo/UBERON_0002109	Pair of nostrils.	
MONDO:0007910	lipoprotein types--Lt system	biolink:Disease	mondo	OMIM:152300|UMLS:C1835359		lipoprotein types--Lt system	http://purl.obolibrary.org/obo/MONDO_0007910		UMLS:C1835359|http://identifiers.org/omim/152300
HGNC:2954	DNAI1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2954		
UBERON:0004770	articular system	biolink:AnatomicalEntity	mondo			set of joints of body|joint system|set of all joints|set of all joints of body	http://purl.obolibrary.org/obo/UBERON_0004770	Anatomical system that consists of all the joints of the body.	
UBERON:0004771	posterior nasal aperture	biolink:AnatomicalEntity	mondo			nasopharyngeal naris|posterior choana|choanae|posterior naris|choana|posterior nasal apperture|internal naris	http://purl.obolibrary.org/obo/UBERON_0004771	Opening/conduit between the nasal cavity and the nasopharynx[AAO] The choanae are separated by the vomer[WP].	
CHEBI:35544	EC 1.14.99.1 (prostaglandin-endoperoxide synthase) inhibitor	biolink:ChemicalSubstance	mondo			(PG)H synthase inhibitors|EC 1.14.99.1 (prostaglandin-endoperoxide synthase) inhibitors|prostaglandin synthetase inhibitor|prostaglandin endoperoxide synthetase inhibitor|fatty acid cyclooxygenase inhibitor|prostaglandin G/H synthase inhibitor|cyclooxygenase inhibitor|prostaglandin synthase inhibitor|PG synthetase inhibitor|(5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoate,hydrogen-donor:oxygen oxidoreductase inhibitor|EC 1.14.99.1 (cyclooxygenase) inhibitors|cyclooxygenase (EC 1.14.99.1) inhibitors|EC 1.14.99.1 inhibitors|cyclooxygenase (EC 1.14.99.1) inhibitor|EC 1.14.99.1 inhibitor|EC 1.14.99.1 (cyclooxygenase) inhibitor|(5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoate,hydrogen-donor:oxygen oxidoreductase inhibitors|PG synthetase inhibitors|COX inhibitor|prostaglandin G/H synthase inhibitors|prostaglandin synthase inhibitors|cyclooxygenase inhibitors|fatty acid cyclooxygenase inhibitors|prostaglandin synthetase inhibitors|prostaglandin endoperoxide synthetase inhibitors|(PG)H synthase inhibitor	http://purl.obolibrary.org/obo/CHEBI_35544	A compound or agent that combines with cyclooxygenases (EC 1.14.99.1) and thereby prevents its substrate-enzyme combination with arachidonic acid and the formation of icosanoids, prostaglandins, and thromboxanes.	
GO:0140053	mitochondrial gene expression	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0140053	The process in which a mitochondrial gene's sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form.	
GO:0140056	organelle localization by membrane tethering	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0140056	The process by which an organelle membrane interacts with another membrane via molecular tethers that physically bridge the two membranes and attach them to each other.	
CHEBI:35545	bipyridine	biolink:ChemicalSubstance	mondo			Bipyridin|bipyridyl|bipyridine	http://purl.obolibrary.org/obo/CHEBI_35545		
UBERON:0002115	jejunum	biolink:AnatomicalEntity	mondo			middle intestine|intestinum jejunum|mid-intestine	http://purl.obolibrary.org/obo/UBERON_0002115	the portion of the small intestine that extends from the duodenum to the ileum	
UBERON:0004778	larynx submucosa	biolink:AnatomicalEntity	mondo			laryngeal submucosa|submucosa of larynx	http://purl.obolibrary.org/obo/UBERON_0004778	A submucosa that is part of a larynx [Automatically generated definition].	
UBERON:0004779	respiratory system lamina propria	biolink:AnatomicalEntity	mondo			respiratory system lamina propria mucosa|lamina propria mucosa of apparatus respiratorius|lamina propria of respiratory system|lamina propria of apparatus respiratorius|lamina propria mucosa of respiratory system|apparatus respiratorius lamina propria mucosa|apparatus respiratorius lamina propria	http://purl.obolibrary.org/obo/UBERON_0004779	A lamina propria that is part of a respiratory system [Automatically generated definition].	
UBERON:0002114	duodenum	biolink:AnatomicalEntity	mondo			upper intestine|proximal intestine	http://purl.obolibrary.org/obo/UBERON_0002114	The first part of the small intestine. At the junction of the stomach and the duodenum the alimentary canal is inflected. The duodenum first goes anteriorly for a short distance, turns dorsally, and eventually caudally, thus it is a U-shaped structure with two horizontal sections (a ventral and a dorsal one).	
UBERON:0004777	respiratory system submucosa	biolink:AnatomicalEntity	mondo			apparatus respiratorius submucosa|submucosa of apparatus respiratorius|submucosa of respiratory system	http://purl.obolibrary.org/obo/UBERON_0004777	A submucosa that is part of a respiratory system [Automatically generated definition].	
HGNC:2961	DYNC1H1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2961		
UBERON:0002116	ileum	biolink:AnatomicalEntity	mondo			intestinum ileum|distal intestine|lower intestine|posterior intestine	http://purl.obolibrary.org/obo/UBERON_0002116	the portion of the small intestine that extends from the jejunum to the colon	
MONDO:0007908	multiple symmetric lipomatosis	biolink:Disease	mondo	GARD:0006957|OMIM:151800|UMLS:C0023804|NCIT:C4392|Orphanet:2398|EFO:1000737|DOID:14116|SCTID:238902007|UMLS:C0024445|UMLS:CN201658|ICD10:E88.8	gard_rare|ordo_disease	Launois-Bensaude lipomatosis|benign symmetrical lipomatosis|familial symmetric lipomatosis|Madelung's neck|lipodystrophy, cephalothoracic|lipomatosis, multiple symmetric; MSL|cephalothoracic lipodystrophy|multiple symmetrical lipomatosis|multiple symmetric lipomatosis|MSL|cervical symmetrical lipomatosis|Launois-Bensaude syndrome|Launois-Bensaude's lipomatosis|Madelung's disease|familial benign cervical lipomatosis|lipomatosis, familial benign cervical|Madelung disease|lipomatosis, multiple symmetric	http://purl.obolibrary.org/obo/MONDO_0007908	Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures).	DOID:14116|UMLS:C0024445|http://identifiers.org/omim/151800|UMLS:C0023804|SNOMEDCT:238902007|UMLS:C2931642|NCIT:C4392|ORPHA:2398|UMLS:CN201658
UBERON:0002111	artery smooth muscle tissue	biolink:AnatomicalEntity	mondo			artery smooth muscle|artery smooth muscle tissue|arterial smooth muscle|arterial smooth muscle cell|smooth muscle of artery	http://purl.obolibrary.org/obo/UBERON_0002111	A portion of smooth muscle tissue that is part of an artery [Automatically generated definition].	
UBERON:0004774	inferior eyelid tarsus	biolink:AnatomicalEntity	mondo			tarsus of lower eyelid|tarsus inferior|inferior tarsal plate|inferior tarsus|inferior tarsus of eyelid|tarsal plate of lower eyelid	http://purl.obolibrary.org/obo/UBERON_0004774	An eyelid tarsus that is part of a lower eyelid [Automatically generated definition].	
UBERON:0002110	gall bladder	biolink:AnatomicalEntity	mondo			gallbladder|vesica biliaris|vesica fellea|gall bladder	http://purl.obolibrary.org/obo/UBERON_0002110	An organ that aids digestion and stores bile produced by the liver[WP].	
MONDO:0007909	familial multiple lipomatosis	biolink:Disease	mondo	SCTID:766888002|ICD9:214.8|ICD10:E88.2|Orphanet:199276|ICD9:214.9|OMIM:151900|GARD:0012925	ordo_disease	lipomatosis, multiple|lipoma|lipomatosis, familial multiple	http://purl.obolibrary.org/obo/MONDO_0007909	Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported.	ORPHA:199276|http://identifiers.org/omim/151900|SNOMEDCT:766888002
MONDO:0007906	familial partial lipodystrophy, Dunnigan type	biolink:Disease	mondo	SCTID:715439000|OMIM:151660|GARD:3126|GARD:0003126|ICD10:E88.1|Orphanet:2348|DOID:0070202	ordo_disease	FPL2|reverse partial lipodystrophy|lipodystrophy, familial, of limbs and Lower trunk|Dunnigan syndrome|lipodystrophy, reverse partial|familial lipodystrophy of limbs and lower trunk|familial partial lipodystrophy Dunnigan type|lipoatrophic diabetes|lipodystrophy, familial partial, type 2; FPLD2|lipodystrophy, familial partial, Dunnigan type|familial partial lipodystrophy type 2|FPLD2|lipodystrophy, familial partial, type 2	http://purl.obolibrary.org/obo/MONDO_0007906	Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.	http://identifiers.org/omim/151660|UMLS:C1720860|DOID:0070202|SNOMEDCT:715439000|ORPHA:2348
UBERON:0002113	kidney	biolink:AnatomicalEntity	mondo			reniculate kidney	http://purl.obolibrary.org/obo/UBERON_0002113	A paired organ of the urinary tract which has the production of urine as its primary function.	
UBERON:0004772	eyelid tarsus	biolink:AnatomicalEntity	mondo			tarsi|tarsus palpebralis|tarsal plate|tarsal plate of eyelid|eyelid tarsi	http://purl.obolibrary.org/obo/UBERON_0004772	The tarsi (tarsal plates) are two comparatively thick, elongated plates of dense connective tissue, about 2.5 cm. in length; one is found in each eyelid, and contributes to its form and support. They directly abut the lid margins.	
UBERON:0002112	smooth muscle of esophagus	biolink:AnatomicalEntity	mondo			non-striated muscle of gullet|non-striated muscle of esophagus|involuntary muscle of oesophagus|involuntary muscle of gullet|oesophagus smooth muscle|smooth muscle of oesophagus|esophagus involuntary muscle|smooth muscle tissue of oesophagus|gullet involuntary muscle|smooth muscle of gullet|oesophagus involuntary muscle|smooth muscle tissue of gullet|esophagus smooth muscle tissue|gullet smooth muscle tissue|oesophagus non-striated muscle|gullet non-striated muscle|esophageal smooth muscle|oesophagus smooth muscle tissue|esophagus non-striated muscle|smooth muscle tissue of esophagus|gullet smooth muscle|esophagus smooth muscle|non-striated muscle of oesophagus|involuntary muscle of esophagus	http://purl.obolibrary.org/obo/UBERON_0002112	A portion of smooth muscle tissue that is part of a esophagus [Automatically generated definition].	
UBERON:0004773	superior eyelid tarsus	biolink:AnatomicalEntity	mondo			superior tarsus|superior tarsus of eyelid|tarsus of upper eyelid|tarsus superior|superior tarsal plate|tarsal plate of upper eyelid	http://purl.obolibrary.org/obo/UBERON_0004773	An eyelid tarsus that is part of a upper eyelid [Automatically generated definition].	
MONDO:0007907	lipoma of the conjunctiva	biolink:Disease	mondo	OMIM:151700|MESH:C563620|UMLS:C1835373		lipoma of the conjunctiva	http://purl.obolibrary.org/obo/MONDO_0007907		http://identifiers.org/omim/151700|MESH:C563620|UMLS:C1835373
GO:0010907	positive regulation of glucose metabolic process	biolink:OntologyClass	mondo			positive regulation of glucose metabolism	http://purl.obolibrary.org/obo/GO_0010907	Any process that increases the rate, frequency or extent of glucose metabolism. Glucose metabolic processes are the chemical reactions and pathways involving glucose, the aldohexose gluco-hexose.	
GO:0044283	small molecule biosynthetic process	biolink:OntologyClass	mondo			small molecule biosynthesis	http://purl.obolibrary.org/obo/GO_0044283	The chemical reactions and pathways resulting in the formation of small molecules, any low molecular weight, monomeric, non-encoded molecule.	
GO:0044281	small molecule metabolic process	biolink:OntologyClass	mondo			small molecule metabolism	http://purl.obolibrary.org/obo/GO_0044281	The chemical reactions and pathways involving small molecules, any low molecular weight, monomeric, non-encoded molecule.	
GO:0010906	regulation of glucose metabolic process	biolink:OntologyClass	mondo			regulation of glucose metabolism	http://purl.obolibrary.org/obo/GO_0010906	Any process that modulates the rate, frequency or extent of glucose metabolism. Glucose metabolic processes are the chemical reactions and pathways involving glucose, the aldohexose gluco-hexose.	
GO:0044282	small molecule catabolic process	biolink:OntologyClass	mondo			small molecule catabolism	http://purl.obolibrary.org/obo/GO_0044282	The chemical reactions and pathways resulting in the breakdown of small molecules, any low molecular weight, monomeric, non-encoded molecule.	
HGNC:15626	FCGR2C	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15626		
UBERON:0004760	gland of anal canal	biolink:AnatomicalEntity	mondo			rectal gland|anal sac|anal gland|gland of anus|gland of anal canal	http://purl.obolibrary.org/obo/UBERON_0004760	A gland that is part of an anal canal [Automatically generated definition].	
HGNC:15625	NBAS	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/15625		
UBERON:0002104	visual system	biolink:AnatomicalEntity	mondo			visual organ system|photosensory system	http://purl.obolibrary.org/obo/UBERON_0002104	The sensory system subserving the sense of vision.	
UBERON:0004768	bone of lower jaw	biolink:AnatomicalEntity	mondo			lower jaw bone	http://purl.obolibrary.org/obo/UBERON_0004768	Any bone that is part of the lower jaw skeleton. This includes (when present): the dentary/mandible, the articular, the splenial, the suprangular	
UBERON:0002103	hindlimb	biolink:AnatomicalEntity	mondo			inferior member|free part of lower limb|membrum inferius|hind limb|pelvic appendage|hindlimb|hind-limb|membrum inferius|free lower limb|lower extremity|lower limb	http://purl.obolibrary.org/obo/UBERON_0002103	A (free) limb that is connected to a pelvic girdle region. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the pelvic girdle and its parts.	
HGNC:2974	DNM2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2974		
UBERON:0002106	spleen	biolink:AnatomicalEntity	mondo			lien	http://purl.obolibrary.org/obo/UBERON_0002106	the organ that functions to filter blood and to store red corpuscles and platelets	
HGNC:2973	DNM1L	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2973		
UBERON:0004765	skeletal element	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004765	Organ consisting of skeletal tissue. Encompasses whole bones, fused bones, cartilaginious elements, teeth, dermal denticles.	
UBERON:0002105	vestibulo-auditory system	biolink:AnatomicalEntity	mondo			vestibuloauditory system|auditory system|vestibuloauditory system|auditory/vestibular system|auditory organ system	http://purl.obolibrary.org/obo/UBERON_0002105	Sensory system responsible for the perception of spatial orientation and auditory stimuli.	
UBERON:0004766	cranial bone	biolink:AnatomicalEntity	mondo			cranium bone	http://purl.obolibrary.org/obo/UBERON_0004766	A bone that is part of a cranium.	
HGNC:2972	DNM1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2972		
GO:0009913	epidermal cell differentiation	biolink:OntologyClass	mondo			hypodermal cell differentiation	http://purl.obolibrary.org/obo/GO_0009913	The process in which a relatively unspecialized cell acquires specialized features of an epidermal cell, any of the cells making up the epidermis.	
UBERON:0002100	trunk	biolink:AnatomicalEntity	mondo			Rumpf|torso|trunk region|thoracolumbar region	http://purl.obolibrary.org/obo/UBERON_0002100	Organism subdivision which is the part of the body posterior to the cervical region (or head, when cervical region not present) and anterior to the caudal region. Includes the sacrum when present.	
GO:0009914	hormone transport	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0009914	The directed movement of hormones into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.	
UBERON:0002102	forelimb	biolink:AnatomicalEntity	mondo			membrum superius|forelimb|pectoral limb|foreleg|pectoral flipper|superior member|anteriormost limb|upper extremity|fore limb|free upper limb|upper limb|free part of upper limb	http://purl.obolibrary.org/obo/UBERON_0002102	A (free) limb that is connected to a pectoral girdle. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the pectoral girdle and its parts.	
UBERON:0004761	cartilaginous neurocranium	biolink:AnatomicalEntity	mondo			embryonic chondocranium|cartilaginous skull|cartilaginous chondocranium|neurocranium|chondocranium|cartiligionous skeletal structure of skull	http://purl.obolibrary.org/obo/UBERON_0004761	The primitive cartilagionous skeletal structure of the fetal skull that grows to envelop the rapidly growing embyonic brain. In humans, the chondrocranium begins forming at 28 days from mesenchymal condensations and is fully formed between week 7 and 9 of fetal development. While the majority of the chondrocranium is succeeded by the bony skull in most higher vertebrates, some components do persist into adulthood.[1] In Cartilagious fishes and Agnathans, the chondrocranium persist throughout life.[2] Embryologically, the chondrocranium represent the basal cranial structure, and lay the base for the formation of the endocranium in higher vertebrates[WP].	
UBERON:0002101	limb	biolink:AnatomicalEntity	mondo			extremities|pentadactyl limb|limb sensu Vertebrata|free limb|flipper|extremity|tetrapod limb	http://purl.obolibrary.org/obo/UBERON_0002101	A paired appendage that is evolved from a paired fin. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the girdle and its parts.	
HGNC:2979	DNMT3B	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2979		
HGNC:2978	DNMT3A	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2978		
HGNC:2976	DNMT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2976		
GO:0010911	regulation of isomerase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010911	Any process that modulates the activity of an isomerase. An isomerase catalyzes the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5.	
GO:0010912	positive regulation of isomerase activity	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0010912	Any process that increases the activity of an isomerase. An isomerase catalyzes the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5.	
CHEBI:35524	sympathomimetic agent	biolink:ChemicalSubstance	mondo			sympathomimetics|sympathomimetic	http://purl.obolibrary.org/obo/CHEBI_35524	A drug that mimics the effects of stimulating postganglionic adrenergic sympathetic nerves. Included in this class are drugs that directly stimulate adrenergic receptors and drugs that act indirectly by provoking the release of adrenergic transmitters.	
CHEBI:35523	bronchodilator agent	biolink:ChemicalSubstance	mondo			bronchodilator|bronchodilator agents|broncholytic agent	http://purl.obolibrary.org/obo/CHEBI_35523	An agent that causes an increase in the expansion of a bronchus or bronchial tubes.	
UBERON:0004756	dermal skeletal element	biolink:AnatomicalEntity	mondo			dermal element	http://purl.obolibrary.org/obo/UBERON_0004756	dermis-derived entity that is made of skeletal tissue.	
UBERON:0004755	skeletal tissue	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004755	A specialized form of connective tissue in which the extracellular matrix is firm, providing the tissue with resilience, and/or mineralized and that functions in mechanical and structural support.[VSAO]	
UBERON:0004753	scapulocoracoid	biolink:AnatomicalEntity	mondo			coraco-scapular cartilage|scapulocoracoid cartilage|scapulo-coracoid cartilage|scapulocoracoideum	http://purl.obolibrary.org/obo/UBERON_0004753	Skeletal element that consists of the scapula and the coracoid[VSAO, modified].	
NCBITaxon:1653394	Mammarenavirus	organism taxon	mondo	GC_ID:1			http://purl.obolibrary.org/obo/NCBITaxon_1653394		
MONDO:0007948	marfanoid hypermobility syndrome	biolink:Disease	mondo	OMIM:154750|MESH:C531742|UMLS:C0268365|GARD:0003387	gard_rare	marfanoid hypermobility syndrome	http://purl.obolibrary.org/obo/MONDO_0007948		UMLS:C0268365|MESH:C531742|http://identifiers.org/omim/154750
MONDO:0007949	Marshall syndrome	biolink:Disease	mondo	ICD9:759.89|UMLS:C0265235|DOID:0111510|GARD:0006984|SCTID:33410002|OMIM:154780|NCIT:C128115|MESH:C536025|Orphanet:560|ICD10:Q87.0	ordo_malformation_syndrome	Marshall syndrome|Marshall syndrome; MRSHS|MRSHS|deafness, myopia, cataract, saddle nose-Marshall type	http://purl.obolibrary.org/obo/MONDO_0007949	Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.	SNOMEDCT:33410002|MESH:C536025|UMLS:C0265235|NCIT:C128115|http://identifiers.org/omim/154780|ORPHA:560|DOID:0111510
MONDO:0007946	jaw-winking syndrome	biolink:Disease	mondo	Orphanet:91412|GARD:0006972|DOID:560|MESH:C535908|OMIM:154600|MedDRA:10064583|ICD9:374.43|SCTID:5127009|UMLS:C0266521|ICD9:742.8|ICD10:Q07.8	ordo_disease	abnormal innervation syndrome of eyelid|Marcus-Gunn syndrome|mandibulo-palpebral synkinesis-ptosis syndrome|Marcus-Gunn phenomenon|pterygoid-levator synkinesis|jaw-blinking|jaw-winking|Marcus Gunn syndrome|jaw-winking syndrome|familial Marcus Gunn phenomenon (subtype)|Maxillopalpebral synkinesis|Marcus Gunn phenomenon	http://purl.obolibrary.org/obo/MONDO_0007946	Marcus-Gunn syndrome is characterised by ptosis associated with maxillopalpebral synkinesis.	SNOMEDCT:5127009|ORPHA:91412|UMLS:C0266521|http://identifiers.org/omim/154600|DOID:560|MEDDRA:10064583|MESH:C535908
MONDO:0007947	Marfan syndrome	biolink:Disease	mondo	UMLS:C0024796|COHD:258540|DOID:14323|OMIM:154700|Orphanet:284963|MESH:D008382|ICD9:759.82|ICD10:Q87.40|ICD10:Q87.4|Orphanet:558|UMLS:CN202883|GARD:0006975|NCIT:C34807|MedDRA:10026829|SCTID:19346006	clingen|ordo_disease|gard_rare|ordo_clinical_subtype|prototype_pattern	MFS1|Marfan's syndrome|Marfan syndrome type 1|MFS|Marfan syndrome; MFS|Marfan syndrome|Marfan syndrome, type 1	http://purl.obolibrary.org/obo/MONDO_0007947	Marfan syndrome is a disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person.	SNOMEDCT:19346006|MEDDRA:10026829|UMLS:CN202883|http://identifiers.org/omim/154700|MESH:D008382|ORPHA:558|DOID:14323|NCIT:C34807|ORPHA:284963|UMLS:C0024796
MONDO:0007944	Treacher-Collins syndrome 1	biolink:Disease	mondo	UMLS:CN119605|OMIM:154500		TCOF1 Treacher-Collins syndrome|TREACHER COLLINS syndrome 1; TCS1|Treacher-Collins syndrome caused by mutation in TCOF1|Treacher Collins syndrome|Treacher Collins syndrome type 1|Treacher Collins-Franceschetti syndrome|mandibulofacial dysostosis|TREACHER COLLINS syndrome 1|TCS1	http://purl.obolibrary.org/obo/MONDO_0007944	Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the TCOF1 gene.	UMLS:C0242387|UMLS:CN119605|http://identifiers.org/omim/154500
MONDO:0007945	mannose 6-phosphate receptor recognition defect, Lebanese type	biolink:Disease	mondo	MESH:C563601|UMLS:C1835134|OMIM:154570		phosphodiester glycoside deficiency|mannose 6-phosphate receptor recognition defect, Lebanese type	http://purl.obolibrary.org/obo/MONDO_0007945		http://identifiers.org/omim/154570|MESH:C563601|UMLS:C1835134
MONDO:0007942	Mammastatin	biolink:Disease	mondo	OMIM:154370		Mammastatin	http://purl.obolibrary.org/obo/MONDO_0007942		http://identifiers.org/omim/154370
HGNC:2988	DOCK2	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2988		
MONDO:0007943	Nager acrofacial dysostosis	biolink:Disease	mondo	MESH:C538184|UMLS:C0265245|DOID:5768|GARD:0000498|OMIM:154400|Orphanet:245|ICD10:Q75.4|SCTID:35520007	gard_rare|ordo_malformation_syndrome	preaxial acrodysostosis|split hand deformity-mandibulofacial dysostosis|preaxial acrofacial dysostosis|Nager acrofacial dysostosis syndrome|Nager syndrome|mandibulofacial dysostosis with preaxial limb anomalies|mandibulofacial dysostosis, Treacher Collins type, with limb anomalies|AFD1|preaxial manibulofacial dysostosis|Nager acrofacial dysostosis|AFD, Nager type|AFD|NAFD|acrofacial dysostosis 1, Nager type; AFD1|acrofacial dysostosis 1, Nager type	http://purl.obolibrary.org/obo/MONDO_0007943	Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.	MESH:C538184|SNOMEDCT:35520007|http://identifiers.org/omim/154400|UMLS:C0265245|ORPHA:245|DOID:5768
MONDO:0007940	malignant hyperthermia, susceptibility to, 3	biolink:Disease	mondo	OMIM:154276|MESH:C535696|GARD:0003365	gard_rare|predisposition	malignant hyperpyrexia susceptibility type 3|malignant hyperthermia, susceptibility to, 3|malignant hyperthermia, susceptibility to, type 3|Mhs3|MHS3|malignant hyperthermia susceptibility type 3	http://purl.obolibrary.org/obo/MONDO_0007940		http://identifiers.org/omim/154276|MESH:C535696
MONDO:0007941	malocclusion due to protuberant upper front teeth	biolink:Disease	mondo	OMIM:154300		malocclusion due to protuberant upper front teeth	http://purl.obolibrary.org/obo/MONDO_0007941		http://identifiers.org/omim/154300
MONDO:0019929	49,XXXXY syndrome	biolink:Disease	mondo	Orphanet:96264|ICD10:Q98.1|SCTID:38847009|UMLS:C0265499|ICD9:758.81|GARD:0005679	ordo_malformation_syndrome|gard_rare	49,XXXXY|XXXXY syndrome	http://purl.obolibrary.org/obo/MONDO_0019929	The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males.	SNOMEDCT:38847009|UMLS:C0265499|ORPHA:96264
MONDO:0019937	rare gynecologic or obstetric disease	biolink:Disease	mondo	UMLS:CN206853|Orphanet:96344	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019937		ORPHA:96344|UMLS:CN206853
MONDO:0019936	rare otorhinolaryngological malformation	biolink:Disease	mondo	UMLS:CN227722|Orphanet:96333	obsoletion_candidate|ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019936		UMLS:CN227722|ORPHA:96333
MONDO:0019939	early-onset schizophrenia	biolink:Disease	mondo	ICD10:F20.8|Orphanet:96369	ordo_disease		http://purl.obolibrary.org/obo/MONDO_0019939		ORPHA:96369
MONDO:0019938	anorectal malformation	biolink:Disease	mondo	SCTID:33225004|Orphanet:96346|MESH:C537771|ICD9:751.5	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019938		SNOMEDCT:33225004|MESH:C537771|ORPHA:96346
MONDO:0019933	acromegaly	biolink:Disease	mondo	MedDRA:10000599|DOID:2449|ICD10:E22.0|NCIT:C84533|UMLS:C0001206|GARD:0005725|EFO:1001485|Orphanet:963|SCTID:74107003|MESH:D000172	ordo_disease|gard_rare	Growth hormone excess|pituitary giant|somatotroph adenoma	http://purl.obolibrary.org/obo/MONDO_0019933	Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.	MEDDRA:10000599|SNOMEDCT:74107003|UMLS:C0001206|MESH:D000172|ORPHA:963|DOID:2449|NCIT:C84533
MONDO:0019932	isolated partial vaginal agenesis	biolink:Disease	mondo	SCTID:87380008|Orphanet:96269|COHD:4337688|ICD10:Q52.0	ordo_morphological_anomaly	congenital absence of vagina	http://purl.obolibrary.org/obo/MONDO_0019932	Isolated partial vaginal agenesis is a rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal.	ORPHA:96269|SNOMEDCT:87380008
MONDO:0019935	isochromosome Y	biolink:Disease	mondo	Orphanet:96325|ICD10:Q98.6	ordo_group_of_disorders	Isochromosome type Y	http://purl.obolibrary.org/obo/MONDO_0019935		ORPHA:96325
MONDO:0019934	polyploidy	biolink:Disease	mondo	MESH:D011123|SCTID:72991005|ICD10:Q92.7|Orphanet:96321	ordo_group_of_disorders		http://purl.obolibrary.org/obo/MONDO_0019934	The chromosomal constitution of a cell containing multiples of the normal number of chromosomes; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.	UMLS:C0032578|MESH:D011123|SNOMEDCT:72991005|ORPHA:96321
UBERON:0002169	alveolar sac	biolink:AnatomicalEntity	mondo			sacculus alveolaris|air sac|pulmonary alveolar sac	http://purl.obolibrary.org/obo/UBERON_0002169	The small terminal dilation of the alveolar ducts around which the alveoli form pocket-like clusters	
HGNC:2995	DPAGT1	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2995		
MONDO:0019931	Leydig cell hypoplasia due to partial LH resistance	biolink:Disease	mondo	UMLS:CN206848|Orphanet:96266|ICD10:Q56.1	ordo_clinical_subtype	46,XY DSD due to partial LH resistance|46,XY DSD due to partial LH receptor inactivation|Leydig cell hypoplasia due to partial luteinizing hormone resistance|46,XY disorder of sex developement due to partial LH receptor inactivation|46,XY DSD due to partial luteinizing hormone resistance|46,XY disorder of sex developement due to partial luteinizing hormone resistance|Leydig cell hypoplasia due to partial LH receptor inactivation|46,XY disorder of sex developement due to partial LH resistance|Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation	http://purl.obolibrary.org/obo/MONDO_0019931		ORPHA:96266|UMLS:CN206848
MONDO:0019930	Leydig cell hypoplasia due to complete LH resistance	biolink:Disease	mondo	UMLS:CN206847|ICD10:Q56.1|Orphanet:96265	ordo_clinical_subtype	Leydig cell hypoplasia due to complete LH receptor inactivation|46,XY disorder of sex development due to complete LH resistance|46,XY DSD due to complete luteinizing hormone resistance|46,XY DSD due to complete LH resistance|46,XY disorder of sex development due to complete luteinizing hormone resistance|Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation|Leydig cell hypoplasia due to complete luteinizing hormone resistance|46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation|46,XY DSD due to complete LH receptor inactivation|46,XY DSD due to complete luteinizing hormone receptor inactivation|46,XY disorder of sex development due to complete LH receptor inactivation	http://purl.obolibrary.org/obo/MONDO_0019930		ORPHA:96265|UMLS:CN206847
UBERON:0002166	endocardium of atrium	biolink:AnatomicalEntity	mondo			endocardium of atrium of heart|cardiac atrium endocardium|endocardium of heart atrium|atrial endocardium|Cardiac atria endocardium|atrium endocardium|atrium endocardial tissue|endocardium of cardiac atrium|endocardium of Cardiac atria|heart atrium endocardium|atrium of heart endocardium	http://purl.obolibrary.org/obo/UBERON_0002166	Endocardium that is part of the atrium.	
HGNC:2993	DONSON	biolink:OntologyClass	mondo				http://identifiers.org/hgnc/2993		
UBERON:0002165	endocardium	biolink:AnatomicalEntity	mondo			endocardial tissue|heart endocardium|endocardial lining|heart endocardial tissue	http://purl.obolibrary.org/obo/UBERON_0002165	The endocardium is an anatomical structure comprised of an endothelium and an extracellular matrix that forms the innermost layer of tissue of the heart, and lines the heart chambers[GO].	
MONDO:0007939	malignant hyperthermia, susceptibility to, 2	biolink:Disease	mondo	MESH:C535695|GARD:0003364|OMIM:154275	clingen|gard_rare|predisposition	malignant hyperthermia susceptibility type 2|malignant hyperthermia, susceptibility to, type 2|Mhs2|malignant hyperpyrexia susceptibility type 2|malignant hyperthermia, susceptibility to, 2|MHS2	http://purl.obolibrary.org/obo/MONDO_0007939		http://identifiers.org/omim/154275|MESH:C535695
UBERON:0002168	left lung	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0002168	Lung which consists of the left upper lobe and left lower lobe.[FMA]	
UBERON:0002167	right lung	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0002167	Lung which consists of the right upper lobe, middle lobe and right lower lobe.[FMA]	
MONDO:0007959	medulloblastoma	biolink:Disease	mondo	ICDO:9470/3|DOID:0050902|ICD10:C71.6|MedDRA:10027107|UMLS:C0025149|DOID:0060104|ONCOTREE:MBL|SCTID:443333004|MESH:D008527|NCIT:C3222|UMLS:C1334410|OMIM:155255|EFO:0002939|GARD:0007005|Orphanet:616	gard_rare|ordo_disease	medulloblastoma|medulloblastoma, Desmoplastic|MDB|medulloblastoma with extensive nodularity|medulloblastoma, malignant|CNS PNET|CPNET|cerebellar medulloblastoma|cerebellum embryonal neoplasm|localized primitive neuroectodermal tumor|brain medulloblastoma|infratentorial primitive neuroectodermal tumor|Medulloblastomas|medulloblastoma; MDB	http://purl.obolibrary.org/obo/MONDO_0007959	A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity.	NCIT:C3222|UMLS:C1334410|http://identifiers.org/omim/155255|UMLS:C0025149|SNOMEDCT:443333004|ORPHA:616|MESH:D008527|DOID:0050902|DOID:0060104|MEDDRA:10027107
MONDO:0007957	mediosternal depigmentation line	biolink:Disease	mondo	OMIM:155200		mediosternal depigmentation line	http://purl.obolibrary.org/obo/MONDO_0007957		http://identifiers.org/omim/155200
MONDO:0007958	familial medullary thyroid carcinoma	biolink:Disease	mondo	MESH:C536911|DOID:0050547|Orphanet:99361|ICD10:C73|UMLS:C1833921|OMIM:155240	ordo_clinical_subtype	thyroid carcinoma, familial medullary|hereditary medullary thyroid gland carcinoma|hereditary thyroid medullary carcinoma|MTC|familial MTC|thyroid carcinoma, familial medullary; MTC|thyroid carcinoma, familial medullary|Fmtc|Mtc1	http://purl.obolibrary.org/obo/MONDO_0007958	An instance of thyroid medullary carcinoma that is caused by an inherited modification of the individual's genome.	http://identifiers.org/omim/155240|ORPHA:99361|UMLS:C1833921|DOID:0050547|MESH:C536911
MONDO:0007955	Meckel diverticulum	biolink:Disease	mondo	ICD9:751.0|SCTID:37373007|EFO:1001036|NCIT:C12264|DOID:9487|MESH:D008467|OMIM:155140|ICD10:Q43.0|COHD:441394|MedDRA:10027055		Meckel diverticulum|Meckel diverticulum|persistent vitelline duct|Meckel's diverticulum	http://purl.obolibrary.org/obo/MONDO_0007955	A congenital pouch in the distal ileum. It may cause painless rectal bleeding and bowel obstruction.	http://identifiers.org/omim/155140|MESH:D008467|SNOMEDCT:37373007|DOID:9487|NCIT:C12264
MONDO:0007956	Pai syndrome	biolink:Disease	mondo	GARD:0003439|Orphanet:1993|OMIM:155145|ICD10:Q87.8|MESH:C536135|UMLS:C1835087|SCTID:722201004	gard_rare|ordo_malformation_syndrome	Pai syndrome|median cleft of upper lip with polyps of facial skin and nasal mucosa|cleft, Median, of upper lip with polyps of Facial skin and nasal mucosa|median cleft of the upper lip-corpus callosum lipoma-cutaneous polyps syndrome|cleft, MEDIAN, of upper LIP with polyps of facial skin and nasal mucosa	http://purl.obolibrary.org/obo/MONDO_0007956	Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.	http://identifiers.org/omim/155145|MESH:C536135|SNOMEDCT:722201004|ORPHA:1993|UMLS:C1835087
MONDO:0007953	binder syndrome	biolink:Disease	mondo	MESH:C536036|GARD:0006992|UMLS:C0220692|DOID:14683|Orphanet:1248|SCTID:715985008|ICD10:Q75.8|OMIM:155050	ordo_malformation_syndrome	MAXILLONASAL dysplasia, BINDER type|Binder syndrome|binder type maxillonasal dysplasia|maxillonasal dysplasia|Maxillonasal dysostosis|binder syndrome	http://purl.obolibrary.org/obo/MONDO_0007953	Binder syndrome is a rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex.	ORPHA:1248|MESH:C536036|DOID:14683|UMLS:C0220692|http://identifiers.org/omim/155050|SNOMEDCT:715985008
MONDO:0007954	May-Hegglin anomaly	biolink:Disease	mondo	Orphanet:1984|UMLS:CN226018|Orphanet:850|NCIT:C131639|OMIM:155100|UMLS:C1834478|Orphanet:807|OMIM:605249|GARD:0000179|UMLS:C0403445|OMIM:600208|MESH:C537831|NCIT:C131646|UMLS:C0398641|NCIT:C131642|SCTID:236422008|ICD9:759.89|UMLS:CN226030|SCTID:234485006|Orphanet:1019|NCIT:C131650|OMIM:153640|UMLS:CN226270|SCTID:234484005|OMIM:153650|ICD9:582.89	gard_rare	Sebastian syndrome|Dohle leukocyte inclusions with giant platelets|May-Hegglin anomaly|matins|macrothrombocytopenia with leukocyte inclusions|Brodie Chole griffin syndrome|macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions|bleeding disorder, Platelet-type, 6|Fechtner syndrome; FTNS|macrothrombocytopenia and progressive sensorineural deafness|FTNS|MHA|macrothrombocytopenia with dispersed leukocytic inclusions|May-Hegglin thrombocytopenia|macrothrombocytopenia, nephritis, and deafness|giant platelet syndrome with thrombocytopenia|Epstein syndrome|Sebastian syndrome; SBS|macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; matins|Sebastian Platelet syndrome|Alport syndrome with macrothrombocytopenia, formerly|May-Hegglin anomaly; MHA|macrothrombocytopenia progressive deafness|Fechtner syndrome|Alport syndrome with macrothrombocytopenia|macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss|SBS	http://purl.obolibrary.org/obo/MONDO_0007954	An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes. It is characterized by varying degrees of thrombocytopenia that may be associated with purpura and bleeding; it is associated with mutation of the MYH9 gene.	http://identifiers.org/omim/155100|UMLS:CN226018|UMLS:CN226030|http://identifiers.org/omim/600208|UMLS:CN226270|ORPHA:1019|SNOMEDCT:236422008|UMLS:C0398641|http://identifiers.org/omim/153640|http://identifiers.org/omim/153650|ORPHA:1984|MESH:C537831|ORPHA:807|ORPHA:850|UMLS:C0403445|http://identifiers.org/omim/605249|NCIT:C131650|NCIT:C131646|NCIT:C131642|NCIT:C131639|SNOMEDCT:234485006|SNOMEDCT:234484005|UMLS:C1834478
MONDO:0007951	masticatory muscles, hypertrophy of	biolink:Disease	mondo	MESH:C563600|SCTID:699649006|OMIM:154850		masseter muscle Hypertrophy|masticatory muscles, hypertrophy of	http://purl.obolibrary.org/obo/MONDO_0007951		http://identifiers.org/omim/154850|MESH:C563600|SNOMEDCT:699649006
MONDO:0007952	maxillofacial dysostosis	biolink:Disease	mondo	MESH:C563599|OMIM:155000|UMLS:C1835088|GARD:0006991	gard_rare	maxillofacial dysostosis	http://purl.obolibrary.org/obo/MONDO_0007952		MESH:C563599|UMLS:C1835088|http://identifiers.org/omim/155000
CHEBI:35508	steroid fundamental parent	biolink:ChemicalSubstance	mondo			steroid fundamental parents	http://purl.obolibrary.org/obo/CHEBI_35508		
MONDO:0007950	mastocytosis	biolink:Disease	mondo	NCIT:C84269|ICD10:Q82.2|GARD:0006987|ICD10:C96.2|Orphanet:98292|MedDRA:10026891|MESH:D008415|UMLS:C0024899|ICD10:D47.0|ONCOTREE:MCD|DOID:350|OMIM:154800	ordo_group_of_disorders	mast cell hyperplasia|mastocytosis|Mast cell disease|MAST cell disease|urticaria pigmentosa	http://purl.obolibrary.org/obo/MONDO_0007950	A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival.	DOID:350|ORPHA:98292|http://identifiers.org/omim/154800|MESH:D008415|UMLS:C0024899|NCIT:C84269|MEDDRA:10026891
CHEBI:35507	natural product fundamental parent	biolink:ChemicalSubstance	mondo			natural product fundamental parents	http://purl.obolibrary.org/obo/CHEBI_35507		
MONDO:0019919	maternal uniparental disomy of chromosome 22	biolink:Disease	mondo	Orphanet:96188|ICD10:Q99.8	ordo_malformation_syndrome	maternal uniparental disomy of chromosome type 22|UPD(22)mat	http://purl.obolibrary.org/obo/MONDO_0019919		ORPHA:96188
MONDO:0019918	maternal uniparental disomy of chromosome 21	biolink:Disease	mondo	Orphanet:96187|ICD10:Q99.8	ordo_malformation_syndrome	maternal uniparental disomy of chromosome type 21|UPD(21)mat	http://purl.obolibrary.org/obo/MONDO_0019918		ORPHA:96187
MONDO:0019926	X small rings	biolink:Disease	mondo	SCTID:766760004|ICD10:Q99.8|Orphanet:96201	ordo_malformation_syndrome		http://purl.obolibrary.org/obo/MONDO_0019926	X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures.	ORPHA:96201|SNOMEDCT:766760004
MONDO:0019925	paternal uniparental disomy of chromosome 21	biolink:Disease	mondo	Orphanet:96195|ICD10:Q99.8|SCTID:766720000	ordo_malformation_syndrome	paternal uniparental disomy of chromosome type 21|UPD(21)pat	http://purl.obolibrary.org/obo/MONDO_0019925	Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.	ORPHA:96195|SNOMEDCT:766720000
MONDO:0019928	48,XXXY syndrome	biolink:Disease	mondo	Orphanet:96263|UMLS:C0265498|NCIT:C89799|SCTID:78317008|MedDRA:10048228|ICD9:758.81|GARD:0005676|ICD10:Q98.1	gard_rare|ordo_malformation_syndrome	48, XXXY syndrome|XXXY syndrome	http://purl.obolibrary.org/obo/MONDO_0019928	The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males.	MEDDRA:10048228|NCIT:C89799|UMLS:C0265498|SNOMEDCT:78317008|ORPHA:96263
MONDO:0019927	growth hormone-producing pituitary gland neoplasm	biolink:Disease	mondo	UMLS:C0278864|NCIT:C7911		growth hormone producing tumor of pituitary|growth hormone secreting neoplasm of the pituitary gland|growth hormone secreting neoplasm of pituitary gland|growth hormone secreting neoplasm of the pituitary|growth hormone secreting pituitary gland tumor|growth hormone secreting tumor of the pituitary gland|growth hormone secreting tumor of pituitary gland|growth hormone secreting neoplasm of pituitary|somatotropinoma|growth hormone secreting pituitary tumor|Growth hormone-producing pituitary gland tumor|growth hormone secreting tumor of the pituitary|growth hormone producing neoplasm of the pituitary gland|growth hormone secreting tumor of pituitary|growth hormone producing neoplasm of pituitary gland|somatotroph tumor|growth hormone producing pituitary gland tumor|growth hormone producing pituitary neoplasm|growth hormone producing neoplasm of the pituitary|growth hormone producing neoplasm of pituitary|growth hormone producing pituitary gland neoplasm|growth hormone producing pituitary tumor|somatotropinoma of the pituitary gland|pituitary gland somatotropinoma|somatotroph neoplasm|somatotropinoma of pituitary gland|pituitary somatotropinoma|growth hormone producing tumor|growth hormone secreting pituitary neoplasm|growth hormone-producing pituitary gland neoplasm|somatotropinoma of the pituitary|somatotropinoma of pituitary|growth hormone producing tumor of the pituitary gland|growth hormone producing tumor of pituitary gland|growth hormone secreting pituitary gland neoplasm|growth hormone producing tumor of the pituitary	http://purl.obolibrary.org/obo/MONDO_0019927	An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces growth hormone.	UMLS:C0278864|NCIT:C7911
MONDO:0019922	paternal uniparental disomy of chromosome 7	biolink:Disease	mondo	Orphanet:96192|SCTID:766721001|ICD10:Q99.8	ordo_malformation_syndrome	paternal uniparental disomy of chromosome type 7|UPD(7)pat	http://purl.obolibrary.org/obo/MONDO_0019922	Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss).	SNOMEDCT:766721001|ORPHA:96192
MONDO:0019921	paternal uniparental disomy of chromosome 6	biolink:Disease	mondo	Orphanet:96191|ICD10:Q99.8	ordo_malformation_syndrome	paternal uniparental disomy of chromosome type 6|UPD(6)pat	http://purl.obolibrary.org/obo/MONDO_0019921	Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.	ORPHA:96191
MONDO:0019924	paternal uniparental disomy of chromosome 20	biolink:Disease	mondo	SCTID:715736008|ICD10:Q99.8|Orphanet:96194|UMLS:C4275028	ordo_malformation_syndrome	paternal UPD20|paternal uniparental disomy of chromosome type 20|UPD(20)pat|paternal UPD(20)	http://purl.obolibrary.org/obo/MONDO_0019924	Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20.	UMLS:C4275028|ORPHA:96194|SNOMEDCT:715736008
GO:0140014	mitotic nuclear division	biolink:OntologyClass	mondo			mitosis	http://purl.obolibrary.org/obo/GO_0140014	A mitotic cell cycle process comprising the steps by which the nucleus of a eukaryotic cell divides; the process involves condensation of chromosomal DNA into a highly compacted form. Canonically, mitosis produces two daughter nuclei whose chromosome complement is identical to that of the mother cell.	
GO:0140013	meiotic nuclear division	biolink:OntologyClass	mondo			meiosis	http://purl.obolibrary.org/obo/GO_0140013	One of the two nuclear divisions that occur as part of the meiotic cell cycle.	
MONDO:0019923	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11	biolink:Disease	mondo	Orphanet:96193|ICD10:Q87.3|UMLS:CN206842	ordo_etiological_subtype	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome type 11|UPD(11)pat|Mosaic paternal uniparental disomy of chromosome 11	http://purl.obolibrary.org/obo/MONDO_0019923		ORPHA:96193|UMLS:CN206842
MONDO:0019920	paternal uniparental disomy of chromosome 5	biolink:Disease	mondo	Orphanet:96190|ICD10:Q99.8	ordo_malformation_syndrome	paternal uniparental disomy of chromosome type 5|UPD(5)pat	http://purl.obolibrary.org/obo/MONDO_0019920	Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.	ORPHA:96190
MONDO:0007926	Waldenstrom macroglobulinemia	biolink:Disease	mondo	OMIM:153600|UMLS:C0024419|ICD10:C88.0|MESH:D008258|Orphanet:33226|GARD:0007872|MedDRA:10047801|DOID:0060901|NCIT:C80307|ONCOTREE:WM	ordo_disease|predisposition	lymphoplasmacytic lymphoma with IgM gammopathy|WM1|macroglobulinemia of Waldenstrom|macroglobulinemia, WALDENSTROM, susceptibility to, 1|Waldenstrom's macroglobulinemia|macroglobulinemia, Waldenstrom, somatic|Waldenström macroglobulinemia|macroglobulinemia, WALDENSTROM, susceptibility to, 1; WM1|Waldenstrom's syndrome|Waldenstrom's macroglobulinaemia|Waldenstroem's macroglobulinemia|Waldenstrom macroglobulinemia	http://purl.obolibrary.org/obo/MONDO_0007926	Waldenstrom macroglobulinemia (WM) is an indolent B-cell lymphoproliferative disorder characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.	DOID:0060901|ORPHA:33226|NCIT:C80307|MESH:D008258|http://identifiers.org/omim/153600|MEDDRA:10047801|UMLS:C0024419
MONDO:0007927	congenital macroglossia	biolink:Disease	mondo	MESH:C531735|OMIM:153630|ICD9:750.15|SCTID:270516002|Orphanet:2430|ICD10:Q38.2	ordo_malformation_syndrome	macroglossia	http://purl.obolibrary.org/obo/MONDO_0007927		MESH:C531735|ORPHA:2430|UMLS:C0009677|http://identifiers.org/omim/153630|SNOMEDCT:270516002
MONDO:0007924	Bannayan-Riley-Ruvalcaba syndrome	biolink:Disease	mondo	ICD10:Q87.8|OMIM:153480|SCTID:21984008|DOID:0050657|ICD9:759.6|NCIT:C3939|GARD:0005887|UMLS:C0265326|Orphanet:109	ordo_malformation_syndrome|gard_rare	Bannayan-Riley-Ruvalcaba syndrome|Myhre-Riley-Smith syndrome|RILEY-SMITH syndrome|Bannayan syndrome|Riley-Smith syndrome|macrocephaly with multiple lipomas and hemangiomas|macrocephaly multiple lipomas and hemangiomata|macrocephaly pseudopapilledema and multiple hemangiomas|Ruvalcaba-MYHRE-SMITH syndrome|Ruvalcaba-Myhre-Smith syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|macrocephaly, multiple lipomas, and hemangiomata|BZS|RMSS|BRRS|Bannayan-RILEY-Ruvalcaba syndrome; BRRS|Bannayan-Zonana syndrome|Ruvalcaba -Myhre-Smith syndrome	http://purl.obolibrary.org/obo/MONDO_0007924	Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.	NCIT:C3939|ORPHA:109|UMLS:C0265326|http://identifiers.org/omim/153480|DOID:0050657|SNOMEDCT:21984008
MONDO:0007925	chromosome 5q deletion syndrome	biolink:Disease	mondo	UMLS:CN206233|GARD:0008723|NCIT:C6867|ICD10:D46.7|DOID:0090016|SCTID:277597005|Orphanet:86841|ICDO:9986/3|MESH:C535323|OMIM:153550|COHD:136950	ordo_disease	5Q minus syndrome|myelodysplastic syndrome with 5q deletion|5q deletion syndrome|macrocytic Anemia, refractory, due to 5Q deletion|5q- syndrome, refractory macrocytic anemia due to 5q deletion|MAR|5q- syndrome|megakaryocytes, unilobular nucleated|refractory macrocytic anemia due to 5q deletion|5q syndrome|myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality|chromosome 5q deletion syndrome|myelodysplastic syndrome associated with isolated del (5q) chromosome Abnormality|5Q- syndrome|myelodysplastic syndrome with isolated del(5q)	http://purl.obolibrary.org/obo/MONDO_0007925	A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is <5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001)	NCIT:C6867|ORPHA:86841|SNOMEDCT:277597005|http://identifiers.org/omim/153550|MESH:C535323|DOID:0090016|UMLS:CN206233
MONDO:0007922	lymphedema-distichiasis syndrome	biolink:Disease	mondo	OMIM:153400|SCTID:8634009|UMLS:C0265345|NCIT:C128191|DOID:0111509|MESH:C537710|ICD10:Q82.0|GARD:0000333|ICD9:743.63|Orphanet:33001	ordo_malformation_syndrome|gard_rare	lymphedema with distichiasis|lymphedema-distichiasis syndrome with renal disease and diabetes mellitus|hereditary lymphedema-distichiasis syndrome (subtype)|lymphedema-distichiasis syndrome	http://purl.obolibrary.org/obo/MONDO_0007922	Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.	ORPHA:33001|UMLS:C0265345|NCIT:C128191|http://identifiers.org/omim/153400|MESH:C537710|DOID:0111509|SNOMEDCT:8634009
MONDO:0007923	macrocephaly, benign familial	biolink:Disease	mondo	MESH:C537717|OMIM:153470|GARD:0000147	gard_rare	macrocephaly, benign familial|benign familial macrocephaly|Cole-Hughes syndrome|benign familial megalencephaly	http://purl.obolibrary.org/obo/MONDO_0007923		MESH:C537717|http://identifiers.org/omim/153470
MONDO:0007920	Meige disease	biolink:Disease	mondo	GARD:0003324|MESH:C562467|Orphanet:90186|MedDRA:10027138|DOID:0070213|SCTID:400040008|OMIM:153200|GARD:3324|ICD10:Q82.0	ordo_disease	LMPH2|lymphedema, late-onset|lymphedema, hereditary, II; LMPH2|Meige disease|late-onset primary lymphedema|late-onset lymphedema|lymphedema, hereditary, II|lymphedema hereditary type 2|hereditary lymphedema type II|lymphedema preacox|Meige lymphedema|lymphedema praecox	http://purl.obolibrary.org/obo/MONDO_0007920	Meige disease is a frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty.	MESH:C562467|DOID:0070213|ORPHA:90186|http://identifiers.org/omim/153200|UMLS:C0025183|SNOMEDCT:400040008|MEDDRA:10027138|UMLS:C1704425|UMLS:C1704424
MONDO:0007921	yellow nail syndrome	biolink:Disease	mondo	MESH:D056684|GARD:0000184|SCTID:400211001|ICD9:703.8|ICD10:L60.5|NCIT:C85238|DOID:0050468|EFO:1001452|MedDRA:10048244|OMIM:153300|Orphanet:662|UMLS:C0221348|ICD9:757.0	ordo_disease|gard_rare	lymphedema and Yellow nails|YNS|yellow nail syndrome|Yns|lymphedema with yellow nails	http://purl.obolibrary.org/obo/MONDO_0007921	Yellow nail syndrome (YNS) is a very rare syndromic disorder characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema.	MESH:D056684|MEDDRA:10048244|SNOMEDCT:400211001|http://identifiers.org/omim/153300|DOID:0050468|ORPHA:662|UMLS:C0221348|NCIT:C85238
NCBITaxon:68336	Bacteroidetes/Chlorobi group	organism taxon	mondo	GC_ID:11		Cytophagales/Green sulfur bacteria group|CFB/Green sulfur bacteria group|CFB/Chlorobi group	http://purl.obolibrary.org/obo/NCBITaxon_68336		
MONDO:0019908	ring chromosome 15	biolink:Disease	mondo	MESH:C538035|Orphanet:96177|SCTID:763405000|UMLS:CN035931|ICD10:Q93.2|GARD:0001328	ordo_malformation_syndrome|gard_rare	chromosome 15 ring|Ring 15|Ring chromosome type 15|R15|Ring chromosome 15 syndrome	http://purl.obolibrary.org/obo/MONDO_0019908	Ring chromosome 15 is a chromosome abnormality that affects growth, learning, and speech. People with ring chromosome 15 often have growth delays before and after birth, resulting in short stature; varying degrees of intellectual disability ; low muscle tone (hypotonia); craniofacial malformations; and limb abnormalities. Other symptoms might include congenital heart defects, kidney problems, congenital dislocation of the hips, and cafe-au-lait spots. Ring chromosome 15 is caused by an abnormal chromosome known as a ring chromosome 15 or r(15). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and the broken ends fuse together. The features of ring chromosome 15 appear to result from the loss (deletion) of genetic material from the long (q) arm of chromosome 15. Ring chromosome 15 is usually caused by spontaneous (de novo) errors very early in embryonic development. In rare cases, it is passed through families, either from a parent who also has a ring chromosome 15, or from a parent who has a balanced translocation. Treatment for ring chromosome 15 is focused on addressing the symptoms present in each individual and may require a team of medical specialists.	ORPHA:96177|SNOMEDCT:763405000|UMLS:C2931703|UMLS:CN035931|MESH:C538035
MONDO:0019907	ring chromosome 13	biolink:Disease	mondo	Orphanet:96176|GARD:0006069|ICD10:Q93.2|SCTID:726723004|MESH:C538303	gard_rare|ordo_malformation_syndrome	R13|Ring chromosome type 13|Ring chromosome 13 syndrome|chromosome 13 ring|Ring 13	http://purl.obolibrary.org/obo/MONDO_0019907	Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia.	UMLS:C2931808|SNOMEDCT:726723004|MESH:C538303|ORPHA:96176
MONDO:0019909	ring chromosome 16	biolink:Disease	mondo	SCTID:763406004|Orphanet:96178|ICD10:Q93.2|GARD:0010855	ordo_malformation_syndrome|gard_rare	Ring chromosome 16 syndrome|R16|Ring chromosome type 16|Ring 16|chromosome 16 ring	http://purl.obolibrary.org/obo/MONDO_0019909	Ring chromosome 16 is characterized bypostnatal growthdeficiency, intellectual disability, microcephaly, broad flat nasal bridge, down-turned mouth, low-set and dysmorphic (abnormally-shaped) ears and speech delay.To date, less than 10 cases have been reported in the medical literature.	ORPHA:96178|SNOMEDCT:763406004
MONDO:0019915	maternal uniparental disomy of chromosome 14	biolink:Disease	mondo	Orphanet:96184|ICD10:Q99.8	ordo_etiological_subtype	maternal uniparental disomy of chromosome type 14|UPD(14)mat	http://purl.obolibrary.org/obo/MONDO_0019915	Maternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum).	ORPHA:96184
MONDO:0019914	maternal uniparental disomy of chromosome 9	biolink:Disease	mondo	ICD10:Q99.8|Orphanet:96183|SCTID:766240006	ordo_malformation_syndrome	UPD(9)mat|maternal uniparental disomy of chromosome type 9	http://purl.obolibrary.org/obo/MONDO_0019914	Maternal uniparental disomy of chromosome 9 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.	SNOMEDCT:766240006|ORPHA:96183
MONDO:0019917	maternal uniparental disomy of chromosome 20	biolink:Disease	mondo	SCTID:715735007|OMIM:617352|ICD10:Q99.8|DOID:0111714|Orphanet:96186	ordo_malformation_syndrome	maternal UPD(20)|uniparental disomy, maternal, chromosome 20|maternal uniparental disomy of chromosome type 20|UPD(20)mat|MBCS|MULCHANDANI-BHOJ-CONLIN syndrome; MBCS	http://purl.obolibrary.org/obo/MONDO_0019917	Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy.	http://identifiers.org/omim/617352|SNOMEDCT:715735007|ORPHA:96186|DOID:0111714
MONDO:0019916	maternal uniparental disomy of chromosome 16	biolink:Disease	mondo	Orphanet:96185|ICD10:Q99.8	ordo_malformation_syndrome	maternal uniparental disomy of chromosome type 16|UPD(16)mat	http://purl.obolibrary.org/obo/MONDO_0019916		ORPHA:96185
MONDO:0019911	maternal uniparental disomy of chromosome 4	biolink:Disease	mondo	ICD10:Q99.8|Orphanet:96180|SCTID:766238001	ordo_malformation_syndrome	UPD(4)mat|maternal uniparental disomy of chromosome type 4	http://purl.obolibrary.org/obo/MONDO_0019911	Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.	SNOMEDCT:766238001|ORPHA:96180
MONDO:0019910	maternal uniparental disomy of chromosome 2	biolink:Disease	mondo	SCTID:766237006|ICD10:Q99.8|Orphanet:96179	ordo_malformation_syndrome	UPD(2)mat|maternal uniparental disomy of chromosome type 2	http://purl.obolibrary.org/obo/MONDO_0019910	Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.	SNOMEDCT:766237006|ORPHA:96179
MONDO:0019913	silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	biolink:Disease	mondo	Orphanet:96182|ICD10:Q87.1|UMLS:CN206841	ordo_etiological_subtype	Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 7|UPD(7)mat	http://purl.obolibrary.org/obo/MONDO_0019913	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders).	UMLS:CN206841|ORPHA:96182
MONDO:0019912	maternal uniparental disomy of chromosome 6	biolink:Disease	mondo	ICD10:Q99.8|SCTID:766239009|Orphanet:96181	ordo_malformation_syndrome	UPD(6)mat|maternal uniparental disomy of chromosome type 6	http://purl.obolibrary.org/obo/MONDO_0019912	Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.	SNOMEDCT:766239009|ORPHA:96181
UBERON:0002148	locus ceruleus	biolink:AnatomicalEntity	mondo			locus coeruleus (Vicq d'Azyr)|loci coeruleus|nucleus caeruleus|substantia ferruginea|nucleus of locus caeruleus|caerulean nucleus|locus coeruleu|locus coeruleus|locus caeruleus|nucleus pigmentosus pontis|blue nucleus|locus cinereus|nucleus loci caerulei	http://purl.obolibrary.org/obo/UBERON_0002148	The locus ceruleus is a dense cluster of neurons within the dorsorostral pons. This nucleus is the major location of neurons that release norepinephrine throughout the brain, and is responsible for physiological responses to stress and panic[GO]. Bluish region in the superior angle of the fourth ventricle floor, corresponding to melanin-like pigmented nerve cells which lie lateral to the ponto-mesencephalic central gray (griseum centrale). It is also known as nucleus pigmentosus pontis[GAID].	
UBERON:0002149	superior salivatory nucleus	biolink:AnatomicalEntity	mondo			nucleus salivatorius superior|nucleus salivatorius rostralis|nucleus salivarius superior|nucleus salivatorius cranialis|superior salivary nucleus	http://purl.obolibrary.org/obo/UBERON_0002149	Nucleus containing parasympathetic neurons giving rise to the parasympathetic division of the facial nerve, innervating the salivary glands (Brodal, Neurological Anatomy, 3rd ed., 1981, pg 703).	
MONDO:0007919	lymphedema, hereditary, 1A	biolink:Disease	mondo	DOID:0070210|OMIM:153100		lymphedema, hereditary, IA; LMPH1A|Milroy disease|FLT4 hereditary lymphedema|lymphedema, hereditary, IA|lymphedema, early-onset|hereditary lymphedema caused by mutation in FLT4|LMPH1A|primary congenital lymphedema|lymphedema, hereditary, type 1A|Nonne-Milroy lymphedema	http://purl.obolibrary.org/obo/MONDO_0007919	Any hereditary lymphedema in which the cause of the disease is a mutation in the FLT4 gene.	DOID:0070210|http://identifiers.org/omim/153100
MONDO:0007917	lymphedema-cerebral arteriovenous anomaly syndrome	biolink:Disease	mondo	UMLS:C1835272|GARD:0009217|MESH:C563612|Orphanet:86914|OMIM:152900	ordo_malformation_syndrome	lymphedema and cerebral arteriovenous anomaly|primary pulmonary hypertension, cerebrovascular malformation and lymphedema feet	http://purl.obolibrary.org/obo/MONDO_0007917	Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children.	http://identifiers.org/omim/152900|MESH:C563612|UMLS:C1835272|ORPHA:86914
UBERON:0002146	pulmonary valve	biolink:AnatomicalEntity	mondo			valva trunci pulmonalis|pulmonic valve	http://purl.obolibrary.org/obo/UBERON_0002146	the semilunar valve of the heart that lies between the right ventricle and the pulmonary artery.	
MONDO:0007918	microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	biolink:Disease	mondo	GARD:0003622|MESH:C537711|ICD10:Q87.8|UMLS:C1835265|OMIM:152950|DOID:0060349|Orphanet:2526	ordo_malformation_syndrome	Cdmmr syndrome|lymphedema, microcephaly, chorioretinopathy syndrome|MCLMR|microcephaly and chorioretinopathy with or without intellectual disability, autosomal dominant|microcephaly, lymphedema, chorioretinal dysplasia syndrome|MLCRD|microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability; MCLMR|Mlcrd syndrome|lymphedema and retinal folds with ficrocephaly and microphthalmos|microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability|lymphedema and retinal Folds with microcephaly and microphthalmos|lymphedema, microcephaly and chorioretinopathy syndrome|chorioretinal dysplasia-microcephaly-mental retardation syndrome|microcephaly with or without chorioretinopathy, lymphedema, or mental retardation|microcephaly-lymphedema-chorioretinopathy syndrome|chorioretinal dysplasia-microcephaly-intellectual disability syndrome|microcephaly lymphedema chorioretinal dysplasia|microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant|microcephaly with or without chorioretinopathy, lymphedema, or mental retardation; MCLMR	http://purl.obolibrary.org/obo/MONDO_0007918	Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.	http://identifiers.org/omim/152950|DOID:0060349|UMLS:C1835265|ORPHA:2526|MESH:C537711
MONDO:0007937	renal hypomagnesemia 2	biolink:Disease	mondo	Orphanet:34528|ICD10:E83.4|OMIM:154020|GARD:0003350|UMLS:C4511005|MESH:C537152|DOID:0060885|UMLS:C1835171|SCTID:725393000	gard_rare|ordo_disease	isolated autosomal dominant hypomagnesemia|magnesium wasting, renal|isolated renal magnesium wasting|hypomagnesemia 2, renal|HOMG2|magnesium loss, isolated renal|familial primary hypomagnesemia caused by mutation in FXYD2|primary hypomagnesemia caused by mutation in FXYD2|autosomal dominant primary hypomagnesemia with hypocalciuria|FXYD2 primary hypomagnesemia|FXYD2 familial primary hypomagnesemia|renal hypomagnesemia type 2|hypomagnesemia 2, renal; HOMG2	http://purl.obolibrary.org/obo/MONDO_0007937	Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.	UMLS:C1835171|DOID:0060885|ORPHA:34528|http://identifiers.org/omim/154020|MESH:C537152|SNOMEDCT:725393000|UMLS:C4511005
MONDO:0007938	46,XY sex reversal 4	biolink:Disease	mondo	DOID:0111771|MESH:C567887|OMIM:154230|NCIT:C132270		46,XY gonadal dysgenesis, partial or complete, with 9P24.3 deletion|46,XY sex reversal 4|46,XY SEX reversal 4; SRXY4|46,XY Sex reversal type 4|chromosome 9P24.3 deletion syndrome|SRXY4	http://purl.obolibrary.org/obo/MONDO_0007938	Sex reversal in an individual associated with a 9p24.3 deletion.	http://identifiers.org/omim/154230|MESH:C567887|NCIT:C132270|DOID:0111771
MONDO:0007935	cystoid macular edema	biolink:Disease	mondo	NCIT:C34794|UMLS:C0730317|DOID:4447|ICD10:H35.5|Orphanet:75381|SCTID:312921000|UMLS:C0024440|OMIM:153880	ordo_disease	DCMD|familial macular edema|macular edema, cystoid|autosomal dominant cystoid macular edema|cystoid macular dystrophy|macular dystrophy, dominant cystoid; DCMD|macular dystrophy, dominant cystoid|Mddc	http://purl.obolibrary.org/obo/MONDO_0007935	Cystoid macular dystrophy is an autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa. It is associated with a poor visual prognosis.	UMLS:C0730317|ORPHA:75381|SNOMEDCT:312921000|DOID:4447|NCIT:C34794|UMLS:C0024440|http://identifiers.org/omim/153880
MONDO:0007936	macular dystrophy, fenestrated sheen type	biolink:Disease	mondo	UMLS:C1835173|OMIM:153890|MESH:C563607		macular dystrophy, fenestrated sheen type	http://purl.obolibrary.org/obo/MONDO_0007936		UMLS:C1835173|MESH:C563607|http://identifiers.org/omim/153890
MONDO:0007933	vitelliform macular dystrophy 1	biolink:Disease	mondo	OMIM:153840|MESH:C537832|GARD:0010120		VMD1|macular dystrophy, vitelliform, 1|macular dystrophy, vitelliform, 1; VMD1|macular dystrophy, atypical vitelliform|vitelliform macular dystrophy, atypical	http://purl.obolibrary.org/obo/MONDO_0007933		MESH:C537832|http://identifiers.org/omim/153840
MONDO:0007934	benign concentric annular macular dystrophy	biolink:Disease	mondo	OMIM:153870|Orphanet:251287|UMLS:C4304667|ICD10:H35.5|MESH:C537833|SCTID:719520001|GARD:0009887	ordo_disease	macular dystrophy, concentric annular|macular dystrophy, benign concentric annular|Mcdca|maculopathy, bull's eye	http://purl.obolibrary.org/obo/MONDO_0007934	Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bullBs eye configuration.	UMLS:C1828210|UMLS:C4304667|MESH:C537833|http://identifiers.org/omim/153870|SNOMEDCT:719520001|ORPHA:251287
UBERON:0002129	cerebellar cortex	biolink:AnatomicalEntity	mondo			cortex cerebellaris|cortex cerebelli|cortex of cerebellar hemisphere	http://purl.obolibrary.org/obo/UBERON_0002129	The superficial gray matter of the cerebellum. It consists of three main layers, the molecular layer, the Purkinje cell layer and the granule cell layer.	
MONDO:0007931	vitelliform macular dystrophy 2	biolink:Disease	mondo	ICD10:H35.5|Orphanet:1243|GARD:0000182|SCTID:763387005|GARD:0010301|OMIM:153700	ordo_disease|gard_rare	macular degeneration, polymorphic vitelline|Best disease|early-onset vitelliform macular dystrophy|BMD|macular dystrophy, vitelliform, 2|macular dystrophy, vitelliform, 2; VMD2|macular dystrophy, vitelliform, type 2|vitelliform macular dystrophy, early-onset|vitelliform macular dystrophy type 2|BEST1 retinopathy|vitelliform macular dystrophy, juvenile-onset|vitelliform macular dystrophy, early-onset|vitelliform macular dystrophy, juvenile-onset|Best macular dystrophy|vitelliform macular dystrophy, type 2|polymorphic vitelline macular degeneration|Best vitelliform macular dystrophy, multifocal|macular degeneration, polymorphic vitelline|juvenile-onset vitelliform macular dystrophy|VMD2|BVMD|macular Degeneration, polymorphic vitelline	http://purl.obolibrary.org/obo/MONDO_0007931	Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region.	ORPHA:1243|http://identifiers.org/omim/153700|SNOMEDCT:763387005
MONDO:0007932	age related macular degeneration 2	biolink:Disease	mondo	UMLS:C3495438|MESH:C562479|OMIM:153800|DOID:0110015		macular Degeneration, Senile|ARMD2|age related macular degeneration type 2|macular degeneration, age-related, 2|maculopathy, age-related, 2|macular Degeneration, age-related, type 2|macular degeneration, age-related, 2; ARMD2	http://purl.obolibrary.org/obo/MONDO_0007932	An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22.	UMLS:C3495438|DOID:0110015|http://identifiers.org/omim/153800|MESH:C562479
FOODON:03411607	nut or edible seed producing plant	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/FOODON_03411607		
MONDO:0007930	Bernard-Soulier syndrome, type A2, autosomal dominant	biolink:Disease	mondo	OMIM:153670|UMLS:C3277076|DOID:0111059		Bernard-Soulier syndrome, type A2, autosomal dominant|BSSA2|Bernard-Soulier syndrome, type A2, autosomal dominant; BSSA2|Bernard-Soulier syndrome type A2	http://purl.obolibrary.org/obo/MONDO_0007930	A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material basis in heterozygous mutations in the GP1BA gene on chromosome 17p.	DOID:0111059|http://identifiers.org/omim/153670|UMLS:C3277076
GO:0140039	cell-cell adhesion in response to extracellular stimulus	biolink:OntologyClass	mondo				http://purl.obolibrary.org/obo/GO_0140039	The attachment of one cell to another cell via adhesion molecules as a result of an extracellular stimulus.	
MONDO:0019904	ring chromosome 3	biolink:Disease	mondo	GARD:0010839|ICD10:Q93.2|SCTID:765486004|NCIT:C121982|Orphanet:96172|UMLS:C4050314	gard_rare|ordo_malformation_syndrome	Ring chromosome 3 syndrome|R3|rose cluster 3|chromosome 3 ring|Ring 3|Ring chromosome type 3	http://purl.obolibrary.org/obo/MONDO_0019904	Gene expression cluster 3 as determined by Recognition of Outliers by Sampling Ends (ROSE) in high-risk B-precursor acute lymphoblastic leukemia.	UMLS:C4050314|SNOMEDCT:765486004|NCIT:C121982|ORPHA:96172
UBERON:0004792	secretion of endocrine pancreas	biolink:AnatomicalEntity	mondo			endocrine pancreas secretion|pars endocrina pancreatis secretion|pancreatic endocrine secretion|secretion of pars endocrina pancreatis	http://purl.obolibrary.org/obo/UBERON_0004792	A secretion that is part of a endocrine pancreas [Automatically generated definition].	
UBERON:0004793	secretion of exocrine pancreas	biolink:AnatomicalEntity	mondo			pancreatic exocrine secretion|pars exocrina pancreatis secretion|exocrine pancreas secretion|secretion of pars exocrina pancreatis	http://purl.obolibrary.org/obo/UBERON_0004793	A secretion that is part of a exocrine pancreas [Automatically generated definition].	
MONDO:0019903	ring chromosome 2	biolink:Disease	mondo	ICD10:Q93.2|GARD:0010837|Orphanet:96171|NCIT:C121981|SCTID:765485000|UMLS:C4050313	gard_rare|ordo_malformation_syndrome	Ring chromosome 2 syndrome|R2|chromosome 2 ring|rose cluster 2|Ring 2|Ring chromosome type 2	http://purl.obolibrary.org/obo/MONDO_0019903	Gene expression cluster 2 as determined by Recognition of Outliers by Sampling Ends (ROSE) in high-risk B-precursor acute lymphoblastic leukemia.	UMLS:C4050313|NCIT:C121981|SNOMEDCT:765485000|ORPHA:96171
UBERON:0004790	skin mucous gland	biolink:AnatomicalEntity	mondo			mucous gland of skin of body|mucous gland of entire skin|skin of body mucous gland|skin mucus gland	http://purl.obolibrary.org/obo/UBERON_0004790	A mucous gland that is part of the skin.	
MONDO:0019906	ring chromosome 11	biolink:Disease	mondo	ICD9:758.89|Orphanet:96175|EFO:0002849|UMLS:C0265444|GARD:0010846|ICD10:Q93.2|SCTID:111310003	gard_rare|ordo_malformation_syndrome	RC11|chromosome 11 ring|Ring chromosome 11 syndrome|Ring chromosome type 11|r11|r(11) syndrome|Ring 11	http://purl.obolibrary.org/obo/MONDO_0019906		SNOMEDCT:111310003|UMLS:C0265444|ORPHA:96175
MONDO:0019905	ring chromosome 9	biolink:Disease	mondo	MESH:C538022|ICD10:Q93.2|Orphanet:96173|UMLS:CN036105|GARD:0001348|SCTID:60650002	gard_rare|ordo_malformation_syndrome	r9|chromosome 9 ring|Ring chromosome type 9|Ring chromosome 9 syndrome|Ring 9	http://purl.obolibrary.org/obo/MONDO_0019905		UMLS:CN036105|SNOMEDCT:60650002|UMLS:C2931693|MESH:C538022|UMLS:C0265430|ORPHA:96173
UBERON:0004791	thymus trabecula	biolink:AnatomicalEntity	mondo			thymus gland trabecula|thymic trabecula|trabecula of thymus gland|trabecula of thymus	http://purl.obolibrary.org/obo/UBERON_0004791	the thymic connective tissue which extends into the parenchyma	
MONDO:0019900	non-distal monosomy 12q	biolink:Disease	mondo	Orphanet:96160|ICD10:Q93.5	ordo_malformation_syndrome	non-distal deletion 12q|non-telomeric monosomy 12q|non-distal monosomy type 12q	http://purl.obolibrary.org/obo/MONDO_0019900		ORPHA:96160
MONDO:0019902	monosomy 13q34	biolink:Disease	mondo	ICD10:Q93.5|SCTID:766716004|Orphanet:96168	ordo_malformation_syndrome	distal deletion 13q34|monosomy type 13q34|Del(13)(q34)|subtelomeric deletion 13q34	http://purl.obolibrary.org/obo/MONDO_0019902	Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum.	SNOMEDCT:766716004|ORPHA:96168
MONDO:0019901	non-distal monosomy 20q	biolink:Disease	mondo	ICD10:Q93.5|Orphanet:96164	ordo_malformation_syndrome	non-distal deletion 20q|non-telomeric monosomy 20q|non-distal monosomy type 20q	http://purl.obolibrary.org/obo/MONDO_0019901		ORPHA:96164
UBERON:0002137	aortic valve	biolink:AnatomicalEntity	mondo			valva aortae	http://purl.obolibrary.org/obo/UBERON_0002137	Cardiac valve which has as its parts the anterior, right posterior and left posterior cusps, attached to the fibrous ring of aortic valve.[FMA]	
UBERON:0004796	prostate gland secretion	biolink:AnatomicalEntity	mondo			prostate fluid|secretion of prostate gland|secretion of prostate|prostatic fluid|prostate secretion	http://purl.obolibrary.org/obo/UBERON_0004796	A bodily secretion that is produced by the prostate gland.	
UBERON:0002133	atrioventricular valve	biolink:AnatomicalEntity	mondo			AV valve|atrio-ventricular valve	http://purl.obolibrary.org/obo/UBERON_0002133	A cardial valve in the atrioventricular region that separates the atrium from the ventricle and prevent backflow from the ventricles into the atria during systole.	
UBERON:0004797	blood vessel layer	biolink:AnatomicalEntity	mondo				http://purl.obolibrary.org/obo/UBERON_0004797	Any of the tissue layers that comprise a blood vessel. Examples: tunica media, tunica adventitia.	
MONDO:0007928	obsolete Fechtner syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0007928		
UBERON:0002135	mitral valve	biolink:AnatomicalEntity	mondo			valva atrioventricularis sinistra|left atrioventricular valve|valva mitralis|bicuspid valve	http://purl.obolibrary.org/obo/UBERON_0002135	An atrioventricular valve that is part of the outflow part of the left atrium.	
UBERON:0004794	esophagus secretion	biolink:AnatomicalEntity	mondo			oesophagus secretion|gullet secretion|secretion of oesophagus|secretion of gullet|secretion of esophagus|esophageal secretion	http://purl.obolibrary.org/obo/UBERON_0004794	A secretion that is part of a esophagus [Automatically generated definition].	
MONDO:0007929	obsolete Epstein syndrome	biolink:Disease	mondo				http://purl.obolibrary.org/obo/MONDO_0007929		
UBERON:0002134	tricuspid valve	biolink:AnatomicalEntity	mondo			valvula tricuspidalis|valva atrioventricularis dextra|right atrioventricular valve	http://purl.obolibrary.org/obo/UBERON_0002134	An atrioventricular valve that is part of the outflow part of the right atrium.	
UBERON:0004795	pancreas secretion	biolink:AnatomicalEntity	mondo			pancreatic secretion|secretion of pancreas	http://purl.obolibrary.org/obo/UBERON_0004795	A secretion that is part of a pancreas [Automatically generated definition].	
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